http://identifiers.org/clinvar/484 ^@ NM_000317.2(PTS):c.286G>A (p.Asp96Asn) http://identifiers.org/clinvar/775 ^@ NM_198488.3(FAM83H):c.2029C>T (p.Gln677Ter) http://identifiers.org/clinvar/784 ^@ NM_213606.3(SLC16A12):c.733C>T (p.Gln245Ter) http://identifiers.org/clinvar/875 ^@ NM_006953.3(UPK3A):c.605G>A (p.Gly202Asp) http://identifiers.org/clinvar/916 ^@ NM_000067.2(CA2):c.319C>T (p.His107Tyr) http://identifiers.org/clinvar/949 ^@ NM_203447.3(DOCK8):c.1418A>G (p.Lys473Arg) http://identifiers.org/clinvar/1007 ^@ MFSD8, 2-BP DEL/2-BP INS http://identifiers.org/clinvar/1016 ^@ NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/1025 ^@ NM_020223.3(FAM20C):c.1645C>T (p.Arg549Trp) http://identifiers.org/clinvar/1034 ^@ NM_015559.2(SETBP1):c.2609G>A (p.Gly870Asp) http://identifiers.org/clinvar/1039 ^@ NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter) http://identifiers.org/clinvar/1300 ^@ NM_001042702.3(DFNB59):c.499C>T (p.Arg167Ter) http://identifiers.org/clinvar/1346 ^@ NM_138959.2(VANGL1):c.715G>A (p.Val239Ile) http://identifiers.org/clinvar/1392 ^@ NM_017777.3(MKS1):c.417G>A (p.Glu139=) http://identifiers.org/clinvar/1437 ^@ COQ2, 1-BP DEL, 1198T http://identifiers.org/clinvar/1482 ^@ HMBS, 1-BP DEL, 41A http://identifiers.org/clinvar/10204 ^@ NM_000132.3(F8):c.1175C>A (p.Ser392Ter) http://identifiers.org/clinvar/10295 ^@ NM_000132.3(F8):c.5879G>T (p.Arg1960Leu) http://identifiers.org/clinvar/10437 ^@ NM_000166.5(GJB1):c.467T>G (p.Leu156Arg) http://identifiers.org/clinvar/10485 ^@ NM_000032.4(ALAS2):c.1354C>T (p.Arg452Cys) http://identifiers.org/clinvar/10620 ^@ NM_000133.3(F9):c.1240C>A (p.Pro414Thr) http://identifiers.org/clinvar/10666 ^@ NM_000133.3(F9):c.755G>C (p.Cys252Ser) http://identifiers.org/clinvar/10711 ^@ NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp) http://identifiers.org/clinvar/10757 ^@ GLA, 3-BP DEL, 1208AAG http://identifiers.org/clinvar/10801 ^@ NM_005765.2(ATP6AP2):c.321C>T (p.Asp107=) http://identifiers.org/clinvar/10847 ^@ AVPR2, 1-BP INS, 804G http://identifiers.org/clinvar/12354 ^@ NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) http://identifiers.org/clinvar/36752 ^@ NM_001165963.1(SCN1A):c.2292T>C (p.Val764=) http://identifiers.org/clinvar/36803 ^@ NM_000545.6(HNF1A):c.1506_1507dupCT (p.Tyr503Serfs) http://identifiers.org/clinvar/36853 ^@ NM_000458.3(HNF1B):c.750C>T (p.Tyr250=) http://identifiers.org/clinvar/36904 ^@ NM_000551.3(VHL):c.464-117delT http://identifiers.org/clinvar/36976 ^@ NM_001098486.1(SLC17A3):c.202A>C (p.Asn68His) http://identifiers.org/clinvar/37143 ^@ NM_001025295.2(IFITM5):c.-14C>T http://identifiers.org/clinvar/37293 ^@ CDHR1, 1-BP DEL, 1459G http://identifiers.org/clinvar/37378 ^@ NM_005732.3(RAD50):c.3508G>A (p.Asp1170Asn) http://identifiers.org/clinvar/37429 ^@ NM_007294.3(BRCA1):c.1826A>G (p.Asn609Ser) http://identifiers.org/clinvar/37481 ^@ NM_007294.3(BRCA1):c.2679_2682delGAAA (p.Lys893Asnfs) http://identifiers.org/clinvar/37539 ^@ NM_007294.3(BRCA1):c.3683delA (p.His1228Profs) http://identifiers.org/clinvar/37592 ^@ NM_007294.3(BRCA1):c.4427dupA (p.Phe1477Valfs) http://identifiers.org/clinvar/37644 ^@ NM_007294.3(BRCA1):c.5177_5180delGAAA (p.Arg1726Lysfs) http://identifiers.org/clinvar/37701 ^@ NM_007294.3(BRCA1):c.81-13C>G http://identifiers.org/clinvar/37752 ^@ NM_000059.3(BRCA2):c.1705C>A (p.Gln569Lys) http://identifiers.org/clinvar/37806 ^@ NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn) http://identifiers.org/clinvar/37857 ^@ NM_000059.3(BRCA2):c.3794G>T (p.Cys1265Phe) http://identifiers.org/clinvar/37911 ^@ NM_000059.3(BRCA2):c.4594G>T (p.Val1532Phe) http://identifiers.org/clinvar/37964 ^@ NM_000059.3(BRCA2):c.5423T>C (p.Ile1808Thr) http://identifiers.org/clinvar/38015 ^@ NM_000059.3(BRCA2):c.6024dupG (p.Gln2009Alafs) http://identifiers.org/clinvar/38070 ^@ NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) http://identifiers.org/clinvar/38120 ^@ NM_000059.3(BRCA2):c.7826G>C (p.Gly2609Ala) http://identifiers.org/clinvar/38170 ^@ NM_000059.3(BRCA2):c.8585dupT (p.Glu2863Argfs) http://identifiers.org/clinvar/38220 ^@ NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) http://identifiers.org/clinvar/39559 ^@ NM_019032.5(ADAMTSL4):c.2270dupG (p.Gly758Trpfs) http://identifiers.org/clinvar/51774 ^@ NM_000059.3(BRCA2):c.5119A>G (p.Thr1707Ala) http://identifiers.org/clinvar/51825 ^@ NM_000059.3(BRCA2):c.521G>A (p.Arg174His) http://identifiers.org/clinvar/51879 ^@ NM_000059.3(BRCA2):c.5560_5561delGT (p.Val1854Phefs) http://identifiers.org/clinvar/51931 ^@ NM_000059.3(BRCA2):c.5763dupT (p.Ala1922Cysfs) http://identifiers.org/clinvar/51982 ^@ NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) http://identifiers.org/clinvar/52033 ^@ NM_000059.3(BRCA2):c.6211A>C (p.Ser2071Arg) http://identifiers.org/clinvar/52086 ^@ NM_000059.3(BRCA2):c.6408_6414delAAATGTT (p.Asn2137Lysfs) http://identifiers.org/clinvar/52138 ^@ NM_000059.3(BRCA2):c.662_663delTT (p.Phe221Serfs) http://identifiers.org/clinvar/52189 ^@ NM_000059.3(BRCA2):c.68-9T>G http://identifiers.org/clinvar/52240 ^@ NM_000059.3(BRCA2):c.7007+5G>C http://identifiers.org/clinvar/52291 ^@ NM_000059.3(BRCA2):c.7224A>G (p.Pro2408=) http://identifiers.org/clinvar/52341 ^@ NM_000059.3(BRCA2):c.7481G>A (p.Arg2494Gln) http://identifiers.org/clinvar/52391 ^@ NM_000059.3(BRCA2):c.7707delT (p.Lys2570Argfs) http://identifiers.org/clinvar/52442 ^@ NM_000059.3(BRCA2):c.794-90A>G http://identifiers.org/clinvar/52492 ^@ NM_000059.3(BRCA2):c.8064_8065delCT (p.Val2690Phefs) http://identifiers.org/clinvar/52542 ^@ NM_000059.3(BRCA2):c.8308G>A (p.Ala2770Thr) http://identifiers.org/clinvar/52593 ^@ NM_000059.3(BRCA2):c.8458G>T (p.Val2820Leu) http://identifiers.org/clinvar/52644 ^@ NM_000059.3(BRCA2):c.8633-2A>T http://identifiers.org/clinvar/52695 ^@ NM_000059.3(BRCA2):c.8890dupA (p.Arg2964Lysfs) http://identifiers.org/clinvar/52745 ^@ NM_000059.3(BRCA2):c.9094_9097delAAAA (p.Lys3032Leufs) http://identifiers.org/clinvar/52797 ^@ NM_000059.3(BRCA2):c.9269dupT (p.Val3091Argfs) http://identifiers.org/clinvar/52848 ^@ NM_000059.3(BRCA2):c.9481A>T (p.Lys3161Ter) http://identifiers.org/clinvar/52898 ^@ NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) http://identifiers.org/clinvar/52948 ^@ NM_000218.2(KCNQ1):c.1070A>G (p.Gln357Arg) http://identifiers.org/clinvar/52998 ^@ NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp) http://identifiers.org/clinvar/53048 ^@ NM_000218.2(KCNQ1):c.477+5G>C http://identifiers.org/clinvar/53098 ^@ NM_000218.2(KCNQ1):c.772C>A (p.His258Asn) http://identifiers.org/clinvar/54612 ^@ NM_007294.3(BRCA1):c.2594delA (p.Lys865Serfs) http://identifiers.org/clinvar/54662 ^@ NM_007294.3(BRCA1):c.2728C>T (p.Gln910Ter) http://identifiers.org/clinvar/54712 ^@ NM_007294.3(BRCA1):c.290_291delCA (p.Thr97Argfs) http://identifiers.org/clinvar/54762 ^@ NM_007294.3(BRCA1):c.3046A>G (p.Asn1016Asp) http://identifiers.org/clinvar/54812 ^@ NM_007294.3(BRCA1):c.3260G>C (p.Gly1087Ala) http://identifiers.org/clinvar/54862 ^@ NM_007294.3(BRCA1):c.3377C>T (p.Pro1126Leu) http://identifiers.org/clinvar/54912 ^@ NM_007294.3(BRCA1):c.3542T>C (p.Val1181Ala) http://identifiers.org/clinvar/54964 ^@ NM_007294.3(BRCA1):c.3698A>G (p.Lys1233Arg) http://identifiers.org/clinvar/55015 ^@ NM_007294.3(BRCA1):c.3817C>T (p.Gln1273Ter) http://identifiers.org/clinvar/55065 ^@ NM_007294.3(BRCA1):c.3972delG (p.Met1324Ilefs) http://identifiers.org/clinvar/55116 ^@ NM_007294.3(BRCA1):c.4163_4166delAGAG (p.Gln1388Leufs) http://identifiers.org/clinvar/55167 ^@ NM_007294.3(BRCA1):c.431delA (p.Asn144Ilefs) http://identifiers.org/clinvar/55218 ^@ NM_007294.3(BRCA1):c.4504C>T (p.Pro1502Ser) http://identifiers.org/clinvar/55268 ^@ NM_007294.3(BRCA1):c.4712T>C (p.Phe1571Ser) http://identifiers.org/clinvar/55319 ^@ NM_007294.3(BRCA1):c.4933A>G (p.Arg1645Gly) http://identifiers.org/clinvar/55369 ^@ NM_007294.3(BRCA1):c.5066T>C (p.Met1689Thr) http://identifiers.org/clinvar/55419 ^@ NM_007294.3(BRCA1):c.5148T>G (p.Tyr1716Ter) http://identifiers.org/clinvar/55469 ^@ NM_007294.3(BRCA1):c.5229_5230delAA (p.Arg1744Lysfs) http://identifiers.org/clinvar/55522 ^@ NM_007294.3(BRCA1):c.5318C>T (p.Thr1773Ile) http://identifiers.org/clinvar/55572 ^@ NM_007294.3(BRCA1):c.5423T>C (p.Val1808Ala) http://identifiers.org/clinvar/55622 ^@ NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter) http://identifiers.org/clinvar/55674 ^@ NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg) http://identifiers.org/clinvar/55725 ^@ NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser) http://identifiers.org/clinvar/55776 ^@ NM_007294.3(BRCA1):c.995G>A (p.Arg332Gln) http://identifiers.org/clinvar/55854 ^@ NM_001376.4(DYNC1H1):c.10151G>A (p.Arg3384Gln) http://identifiers.org/clinvar/55927 ^@ NM_006494.3(ERF):c.1270C>T (p.Gln424Ter) http://identifiers.org/clinvar/55984 ^@ NM_000111.2(SLC26A3):c.1624_1626delTCTinsC (p.Ser542Profs) http://identifiers.org/clinvar/56037 ^@ NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs) http://identifiers.org/clinvar/56696 ^@ NM_017890.4(VPS13B):c.8697-2A>G http://identifiers.org/clinvar/56746 ^@ NM_030943.3(AMN):c.1253dupA (p.Leu419Alafs) http://identifiers.org/clinvar/56815 ^@ NM_001142519.2(FAM111A):c.1579C>A (p.Pro527Thr) http://identifiers.org/clinvar/57006 ^@ GRCh38/hg38 9p24.3(chr9:229198-381489)x3 http://identifiers.org/clinvar/57058 ^@ GRCh38/hg38 5q13.2(chr5:70436365-71420835)x1 http://identifiers.org/clinvar/57115 ^@ GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 http://identifiers.org/clinvar/57166 ^@ GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1 http://identifiers.org/clinvar/57218 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 http://identifiers.org/clinvar/57271 ^@ GRCh38/hg38 11p15.3(chr11:12147544-12638655)x3 http://identifiers.org/clinvar/57323 ^@ GRCh38/hg38 11q25(chr11:134430682-134998513)x1 http://identifiers.org/clinvar/57377 ^@ GRCh38/hg38 Xq28(chrX:154791149-154931411)x2 http://identifiers.org/clinvar/101394 ^@ NP_000081.1:p.Gly195_Arg266del http://identifiers.org/clinvar/101444 ^@ NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser) http://identifiers.org/clinvar/101494 ^@ NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) http://identifiers.org/clinvar/102451 ^@ NM_001320371.1(ZNF582):c.1127G>A (p.Gly376Glu) http://identifiers.org/clinvar/102508 ^@ NM_000277.1(PAH):c.1066-14C>G http://identifiers.org/clinvar/102565 ^@ NM_000277.1(PAH):c.1200-8G>A http://identifiers.org/clinvar/102617 ^@ NM_000277.1(PAH):c.181A>G (p.Asn61Asp) http://identifiers.org/clinvar/102671 ^@ NM_000277.1(PAH):c.441+1G>A http://identifiers.org/clinvar/102722 ^@ NM_000277.1(PAH):c.523C>G (p.Pro175Ala) http://identifiers.org/clinvar/102772 ^@ NM_000277.1(PAH):c.650G>A (p.Cys217Tyr) http://identifiers.org/clinvar/102823 ^@ NM_000277.1(PAH):c.754C>G (p.Arg252Gly) http://identifiers.org/clinvar/102875 ^@ NM_000277.1(PAH):c.845A>G (p.Asp282Gly) http://identifiers.org/clinvar/102925 ^@ NM_000277.1(PAH):c.991T>C (p.Phe331Leu) http://identifiers.org/clinvar/102983 ^@ NM_134444.4(NLRP4):c.*283T>C http://identifiers.org/clinvar/103033 ^@ NM_001033053.2(NLRP1):c.448+292C>T http://identifiers.org/clinvar/103083 ^@ NM_001199138.1(NLRC4):c.2782+81C>T http://identifiers.org/clinvar/103133 ^@ NM_024618.3(NLRX1):c.1484C>T (p.Pro495Leu) http://identifiers.org/clinvar/103183 ^@ NM_032206.4(NLRC5):c.356-88G>A http://identifiers.org/clinvar/103233 ^@ NM_138329.2(NLRP6):c.1940A>G (p.Gln647Arg) http://identifiers.org/clinvar/103283 ^@ NM_153447.4(NLRP5):c.2447+122A>G http://identifiers.org/clinvar/103333 ^@ NM_176811.2(NLRP8):c.850C>A (p.Leu284Ile) http://identifiers.org/clinvar/111207 ^@ NM_000416.2(IFNGR1):c.1027G>A (p.Val343Met) http://identifiers.org/clinvar/111257 ^@ NM_005534.3(IFNGR2):c.780G>T (p.Ser260=) http://identifiers.org/clinvar/120215 ^@ NM_001955.4(EDN1):c.249T>G (p.Tyr83Ter) http://identifiers.org/clinvar/120269 ^@ NM_000277.1(PAH):c.183C>A (p.Asn61Lys) http://identifiers.org/clinvar/120319 ^@ NM_004996.3(ABCC1):c.1678-34G>A http://identifiers.org/clinvar/125480 ^@ NM_007294.3(BRCA1):c.-11A>C http://identifiers.org/clinvar/125556 ^@ NM_007294.3(BRCA1):c.2355dupA (p.Leu786Thrfs) http://identifiers.org/clinvar/126376 ^@ NM_014832.4(TBC1D4):c.1087C>T (p.Arg363Ter) http://identifiers.org/clinvar/126429 ^@ NM_001017975.4(HFM1):c.2651T>G (p.Ile884Ser) http://identifiers.org/clinvar/126502 ^@ NM_019851.2(FGF20):c.337delG (p.Val113Trpfs) http://identifiers.org/clinvar/126583 ^@ NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter) http://identifiers.org/clinvar/126633 ^@ NM_024675.3(PALB2):c.212-25_212-24insAT http://identifiers.org/clinvar/126685 ^@ NM_024675.3(PALB2):c.2834+12C>T http://identifiers.org/clinvar/126735 ^@ NM_024675.3(PALB2):c.3350+11A>G http://identifiers.org/clinvar/126786 ^@ NM_000321.2(RB1):c.1738G>T (p.Glu580Ter) http://identifiers.org/clinvar/126837 ^@ NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) http://identifiers.org/clinvar/126891 ^@ NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg) http://identifiers.org/clinvar/126946 ^@ NM_001127464.2(ZNF469):c.7847G>A (p.Arg2616Gln) http://identifiers.org/clinvar/126996 ^@ NM_005732.3(RAD50):c.494C>A (p.Pro165His) http://identifiers.org/clinvar/127046 ^@ NM_134424.3(RAD52):c.*325C>G http://identifiers.org/clinvar/127103 ^@ NM_001080517.2(SETD5):c.2177_2178delCA (p.Thr726Asnfs) http://identifiers.org/clinvar/127170 ^@ NM_001101.3(ACTB):c.586C>A (p.Arg196Ser) http://identifiers.org/clinvar/127269 ^@ NM_207036.1(TCF12):c.1000_1001delCA (p.Gln334Aspfs) http://identifiers.org/clinvar/127320 ^@ NM_000038.5(APC):c.7570A>G (p.Lys2524Glu) http://identifiers.org/clinvar/127370 ^@ NM_000051.3(ATM):c.334G>A (p.Ala112Thr) http://identifiers.org/clinvar/127420 ^@ NM_000051.3(ATM):c.6160G>T (p.Ala2054Ser) http://identifiers.org/clinvar/127471 ^@ NM_000051.3(ATM):c.998C>T (p.Ser333Phe) http://identifiers.org/clinvar/127521 ^@ NM_000075.3(CDK4):c.862C>G (p.Arg288Gly) http://identifiers.org/clinvar/127571 ^@ NM_000179.2(MSH6):c.242C>T (p.Ala81Val) http://identifiers.org/clinvar/127622 ^@ NM_000249.3(MLH1):c.2239C>T (p.Pro747Ser) http://identifiers.org/clinvar/127678 ^@ NM_000314.6(PTEN):c.-856C>G http://identifiers.org/clinvar/127731 ^@ NM_000465.3(BARD1):c.2123A>G (p.Lys708Arg) http://identifiers.org/clinvar/127781 ^@ NM_000535.6(PMS2):c.2386G>A (p.Val796Ile) http://identifiers.org/clinvar/160801 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1 http://identifiers.org/clinvar/160852 ^@ GRCh38/hg38 22q13.33(chr22:50685063-50739836)x1 http://identifiers.org/clinvar/160904 ^@ GRCh38/hg38 20p12.1(chr20:12776078-13349316)x1 http://identifiers.org/clinvar/160956 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 http://identifiers.org/clinvar/161007 ^@ GRCh38/hg38 14q32.33(chr14:106450995-106714110)x3 http://identifiers.org/clinvar/161057 ^@ GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 http://identifiers.org/clinvar/161107 ^@ NM_030777.3(SLC2A10):c.730_733delCTAA (p.Leu244Glnfs) http://identifiers.org/clinvar/161157 ^@ NM_152296.4(ATP1A3):c.1250T>C (p.Leu417Pro) http://identifiers.org/clinvar/161239 ^@ NM_000138.4(FBN1):c.7379A>G (p.Lys2460Arg) http://identifiers.org/clinvar/162019 ^@ NM_000666.2(ACY1):c.1001_1001+5delTGTGAG http://identifiers.org/clinvar/162081 ^@ NM_002887.3(RARS):c.45+1G>T http://identifiers.org/clinvar/162138 ^@ NM_016247.3(IMPG2):c.3230G>T (p.Cys1077Phe) http://identifiers.org/clinvar/162206 ^@ NM_006701.4(TXNL4A):c.131delT (p.Val44Alafs) http://identifiers.org/clinvar/162410 ^@ NM_170707.3(LMNA):c.1699_1968del270 (p.Gly567_Gln656del) http://identifiers.org/clinvar/162491 ^@ NM_000113.2(TOR1A):c.863G>A (p.Arg288Gln) http://identifiers.org/clinvar/162565 ^@ NM_006731.2(FKTN):c.-99delT http://identifiers.org/clinvar/162667 ^@ NM_006726.4(LRBA):c.2032C>T (p.Gln678Ter) http://identifiers.org/clinvar/162817 ^@ NM_001232.3(CASQ2):c.479G>A (p.Arg160His) http://identifiers.org/clinvar/179466 ^@ NM_001035.2(RYR2):c.11039+13G>T http://identifiers.org/clinvar/163751 ^@ NM_004700.3(KCNQ4):c.1162C>T (p.Arg388Trp) http://identifiers.org/clinvar/179916 ^@ NM_144573.3(NEXN):c.-10T>C http://identifiers.org/clinvar/163866 ^@ NM_170707.3(LMNA):c.497G>A (p.Arg166Gln) http://identifiers.org/clinvar/179316 ^@ NM_133378.4(TTN):c.85618A>G (p.Ile28540Val) http://identifiers.org/clinvar/179716 ^@ NM_133378.4(TTN):c.84027C>T (p.Asp28009=) http://identifiers.org/clinvar/178815 ^@ NM_133378.4(TTN):c.99032C>T (p.Ser33011Leu) http://identifiers.org/clinvar/179416 ^@ NM_001256850.1(TTN):c.57107T>C (p.Ile19036Thr) http://identifiers.org/clinvar/179066 ^@ NM_133378.4(TTN):c.66039C>A (p.Asp22013Glu) http://identifiers.org/clinvar/179516 ^@ NM_133378.4(TTN):c.85663G>A (p.Val28555Ile) http://identifiers.org/clinvar/179766 ^@ NM_133378.4(TTN):c.31471C>T (p.Pro10491Ser) http://identifiers.org/clinvar/179666 ^@ NM_133378.4(TTN):c.31910-9C>A http://identifiers.org/clinvar/163668 ^@ NM_032383.4(HPS3):c.1494G>A (p.Gln498=) http://identifiers.org/clinvar/180066 ^@ NM_016599.4(MYOZ2):c.190A>C (p.Arg64=) http://identifiers.org/clinvar/177906 ^@ NC_000005.10:g.(?_112754891)_(112844071_?)del http://identifiers.org/clinvar/163127 ^@ NM_001277115.1(DNAH11):c.11325G>A (p.Ala3775=) http://identifiers.org/clinvar/179566 ^@ NM_004403.2(DFNA5):c.1416G>A (p.Lys472=) http://identifiers.org/clinvar/163281 ^@ NM_004415.3(DSP):c.5554C>T (p.Arg1852Cys) http://identifiers.org/clinvar/163077 ^@ NM_005219.4(DIAPH1):c.402+12delG http://identifiers.org/clinvar/177755 ^@ NM_032119.3(ADGRV1):c.18625-7T= http://identifiers.org/clinvar/200490 ^@ NM_000238.3(KCNH2):c.2758C>G (p.Arg920Gly) http://identifiers.org/clinvar/200737 ^@ NM_000238.3(KCNH2):c.1742C>A (p.Ser581Ter) http://identifiers.org/clinvar/200628 ^@ NM_000238.3(KCNH2):c.1150dupG (p.Val384Glyfs) http://identifiers.org/clinvar/200321 ^@ NM_000238.3(KCNH2):c.1096C>T (p.Arg366Ter) http://identifiers.org/clinvar/200830 ^@ NM_000218.2(KCNQ1):c.965C>G (p.Thr322Arg) http://identifiers.org/clinvar/200884 ^@ NM_000218.2(KCNQ1):c.1446delC (p.Asn483Thrfs) http://identifiers.org/clinvar/200204 ^@ NM_000138.4(FBN1):c.1297_1300dupGAAT (p.Tyr434Terfs) http://identifiers.org/clinvar/202078 ^@ NM_001134363.2(RBM20):c.2501dupA (p.Asp834Glufs) http://identifiers.org/clinvar/201907 ^@ NM_006393.2(NEBL):c.1225G>A (p.Glu409Lys) http://identifiers.org/clinvar/201852 ^@ NM_007078.2(LDB3):c.1594G>C (p.Ala532Pro) http://identifiers.org/clinvar/201688 ^@ NM_001885.2(CRYAB):c.16C>T (p.His6Tyr) http://identifiers.org/clinvar/202019 ^@ NM_004572.3(PKP2):c.1664delT (p.Phe555Serfs) http://identifiers.org/clinvar/201960 ^@ NM_004572.3(PKP2):c.387G>A (p.Gln129=) http://identifiers.org/clinvar/201798 ^@ NM_020433.4(JPH2):c.661T>C (p.Phe221Leu) http://identifiers.org/clinvar/201742 ^@ NM_004006.2(DMD):c.9299A>G (p.Asn3100Ser) http://identifiers.org/clinvar/202190 ^@ NM_002977.3(SCN9A):c.2690G>A (p.Trp897Ter) http://identifiers.org/clinvar/202240 ^@ NC_000023.10:g.(?_7050418)_(7247772_?)dup http://identifiers.org/clinvar/203084 ^@ NM_001256850.1(TTN):c.99616T>C (p.Tyr33206His) http://identifiers.org/clinvar/203034 ^@ NM_001256850.1(TTN):c.93029A>C (p.Asn31010Thr) http://identifiers.org/clinvar/202984 ^@ NM_001256850.1(TTN):c.86517G>C (p.Gln28839His) http://identifiers.org/clinvar/202934 ^@ NM_001256850.1(TTN):c.81574_81575delGC (p.Ala27192Cysfs) http://identifiers.org/clinvar/202419 ^@ NM_001256850.1(TTN):c.79974G>A (p.Trp26658Ter) http://identifiers.org/clinvar/202473 ^@ NM_001256850.1(TTN):c.73932_73935delTAGA (p.Arg24645Glnfs) http://identifiers.org/clinvar/202884 ^@ NM_001256850.1(TTN):c.73097T>C (p.Met24366Thr) http://identifiers.org/clinvar/202834 ^@ NM_001256850.1(TTN):c.66701C>A (p.Thr22234Asn) http://identifiers.org/clinvar/233855 ^@ NM_005732.3(RAD50):c.1000_1002delAAA (p.Lys334del) http://identifiers.org/clinvar/233652 ^@ NM_000535.6(PMS2):c.282G>A (p.Glu94=) http://identifiers.org/clinvar/233602 ^@ NM_000077.4(CDKN2A):c.458-4G>C http://identifiers.org/clinvar/233052 ^@ NM_020975.4(RET):c.45G>A (p.Leu15=) http://identifiers.org/clinvar/233754 ^@ NM_004329.2(BMPR1A):c.*2G>A http://identifiers.org/clinvar/233702 ^@ NM_000051.3(ATM):c.1662G>A (p.Thr554=) http://identifiers.org/clinvar/233804 ^@ NM_000051.3(ATM):c.4713T>C (p.Phe1571=) http://identifiers.org/clinvar/233152 ^@ NM_000051.3(ATM):c.6023T>C (p.Ile2008Thr) http://identifiers.org/clinvar/234205 ^@ NM_000051.3(ATM):c.6968G>T (p.Cys2323Phe) http://identifiers.org/clinvar/233552 ^@ NM_000059.3(BRCA2):c.670G>A (p.Asp224Asn) http://identifiers.org/clinvar/233352 ^@ NM_000059.3(BRCA2):c.10247A>C (p.Lys3416Thr) http://identifiers.org/clinvar/233252 ^@ NM_001042492.2(NF1):c.2658C>G (p.Asn886Lys) http://identifiers.org/clinvar/233302 ^@ NM_001042492.2(NF1):c.4402G>A (p.Val1468Met) http://identifiers.org/clinvar/229802 ^@ NM_001042492.2(NF1):c.7922A>T (p.Glu2641Val) http://identifiers.org/clinvar/233955 ^@ NM_007294.3(BRCA1):c.3440C>A (p.Ser1147Tyr) http://identifiers.org/clinvar/233905 ^@ NM_032043.2(BRIP1):c.918C>T (p.Asn306=) http://identifiers.org/clinvar/234055 ^@ NM_000546.5(TP53):c.537T>C (p.His179=) http://identifiers.org/clinvar/233202 ^@ NM_007194.3(CHEK2):c.809T>A (p.Val270Asp) http://identifiers.org/clinvar/235312 ^@ NM_000050.4(ASS1):c.766G>A (p.Glu256Lys) http://identifiers.org/clinvar/235362 ^@ NM_025137.3(SPG11):c.6759C>G (p.Asp2253Glu) http://identifiers.org/clinvar/235417 ^@ NM_020822.2(KCNT1):c.3383C>T (p.Ala1128Val) http://identifiers.org/clinvar/235473 ^@ NM_015697.7(COQ2):c.48dupC (p.Ala17Argfs) http://identifiers.org/clinvar/235889 ^@ NM_017780.3(CHD7):c.6955C>T (p.Arg2319Cys) http://identifiers.org/clinvar/236051 ^@ NM_000260.3(MYO7A):c.620A>G (p.Asn207Ser) http://identifiers.org/clinvar/236101 ^@ NM_000350.2(ABCA4):c.3377T>C (p.Leu1126Pro) http://identifiers.org/clinvar/236151 ^@ NM_004621.5(TRPC6):c.*86C>T http://identifiers.org/clinvar/236209 ^@ NM_018480.4(TMEM126B):c.635G>T (p.Gly212Val) http://identifiers.org/clinvar/236289 ^@ NM_198578.3(LRRK2):c.1829T>C (p.Ile610Thr) http://identifiers.org/clinvar/236340 ^@ NC_000002.10:g.50786446_51225851del439406 http://identifiers.org/clinvar/236390 ^@ NC_000020.10:g.14748535_14955730del207196 http://identifiers.org/clinvar/236541 ^@ NM_206933.2(USH2A):c.1558delT (p.Cys520Alafs) http://identifiers.org/clinvar/236491 ^@ NM_001030311.2(CERKL):c.1045_1046delAT (p.Met349Valfs) http://identifiers.org/clinvar/236441 ^@ NM_032119.3(ADGRV1):c.5504_5507delTTCC (p.Leu1835Glnfs) http://identifiers.org/clinvar/238237 ^@ NM_001035.2(RYR2):c.5374A>T (p.Ile1792Leu) http://identifiers.org/clinvar/241431 ^@ NM_022114.3(PRDM16):c.3621A>T (p.Glu1207Asp) http://identifiers.org/clinvar/241031 ^@ NM_015284.3(SZT2):c.2631C>T (p.Thr877=) http://identifiers.org/clinvar/238337 ^@ NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) http://identifiers.org/clinvar/238837 ^@ NM_001267550.2(TTN):c.72528A>C (p.Glu24176Asp) http://identifiers.org/clinvar/238787 ^@ NM_001267550.2(TTN):c.47296A>T (p.Thr15766Ser) http://identifiers.org/clinvar/238737 ^@ NM_001267550.2(TTN):c.29729C>T (p.Thr9910Ile) http://identifiers.org/clinvar/241981 ^@ NM_152383.4(DIS3L2):c.424C>A (p.Pro142Thr) http://identifiers.org/clinvar/239038 ^@ NM_001743.5(CALM2):c.240A>T (p.Thr80=) http://identifiers.org/clinvar/239138 ^@ NM_002354.2(EPCAM):c.6G>T (p.Ala2=) http://identifiers.org/clinvar/237146 ^@ NM_000179.2(MSH6):c.185G>C (p.Arg62Pro) http://identifiers.org/clinvar/237197 ^@ NM_000179.2(MSH6):c.3762_3763delAGinsTT (p.Glu1254_Asp1255delinsAspTyr) http://identifiers.org/clinvar/240981 ^@ NM_015120.4(ALMS1):c.12222G>T (p.Gln4074His) http://identifiers.org/clinvar/241731 ^@ NM_033084.4(FANCD2):c.1414-9C>T http://identifiers.org/clinvar/237347 ^@ NM_000249.3(MLH1):c.81G>A (p.Arg27=) http://identifiers.org/clinvar/238587 ^@ NM_001148.4(ANK2):c.7105G>T (p.Val2369Phe) http://identifiers.org/clinvar/237247 ^@ NM_000222.2(KIT):c.1587C>T (p.Phe529=) http://identifiers.org/clinvar/236591 ^@ NM_000038.5(APC):c.3407A>C (p.Glu1136Ala) http://identifiers.org/clinvar/236641 ^@ NM_000038.5(APC):c.7136C>T (p.Thr2379Ile) http://identifiers.org/clinvar/239088 ^@ NM_001999.3(FBN2):c.6167-3C>A http://identifiers.org/clinvar/238987 ^@ NM_001369.2(DNAH5):c.8029C>T (p.Arg2677Ter) http://identifiers.org/clinvar/238637 ^@ NM_001206927.1(DNAH8):c.13468C>T (p.Arg4490Cys) http://identifiers.org/clinvar/237297 ^@ NM_000238.3(KCNH2):c.2901G>T (p.Pro967=) http://identifiers.org/clinvar/238937 ^@ NM_001277115.1(DNAH11):c.8969G>A (p.Arg2990His) http://identifiers.org/clinvar/238887 ^@ NM_001277115.1(DNAH11):c.10324C>T (p.Gln3442Ter) http://identifiers.org/clinvar/240931 ^@ NM_014855.2(AP5Z1):c.1003C>G (p.Leu335Val) http://identifiers.org/clinvar/262080 ^@ NM_032446.2(MEGF10):c.660-3C>T http://identifiers.org/clinvar/261580 ^@ NM_022455.4(NSD1):c.1237-37delT http://identifiers.org/clinvar/259190 ^@ NM_003900.4(SQSTM1):c.924G>A (p.Ala308=) http://identifiers.org/clinvar/257051 ^@ NM_001010892.2(RSPH4A):c.492G>A (p.Arg164=) http://identifiers.org/clinvar/256051 ^@ NM_000426.3(LAMA2):c.1207-28G>A http://identifiers.org/clinvar/262180 ^@ NM_033071.3(SYNE1):c.2119-29C>T http://identifiers.org/clinvar/259440 ^@ NM_004568.5(SERPINB6):c.730-14C>T http://identifiers.org/clinvar/256301 ^@ NM_000500.7(CYP21A2):c.822T>C (p.Ser274=) http://identifiers.org/clinvar/261180 ^@ NM_019105.6(TNXB):c.9635G>T (p.Gly3212Val) http://identifiers.org/clinvar/261130 ^@ NM_019105.6(TNXB):c.2373C>T (p.Ser791=) http://identifiers.org/clinvar/258340 ^@ NM_001851.4(COL9A1):c.1197+11T>C http://identifiers.org/clinvar/259340 ^@ NM_004370.5(COL12A1):c.5727C>T (p.Tyr1909=) http://identifiers.org/clinvar/256251 ^@ NM_000492.3(CFTR):c.2245C>T (p.Leu749=) http://identifiers.org/clinvar/259290 ^@ NM_004333.4(BRAF):c.504+17A>G http://identifiers.org/clinvar/260930 ^@ NM_017802.3(DNAAF5):c.1895T>C (p.Val632Ala) http://identifiers.org/clinvar/258990 ^@ NM_003235.4(TG):c.3001+10G>A http://identifiers.org/clinvar/256851 ^@ NM_001001557.3(GDF6):c.936G>C (p.Ser312=) http://identifiers.org/clinvar/261330 ^@ NM_020549.4(CHAT):c.1383-42G>C http://identifiers.org/clinvar/257401 ^@ NM_001083116.1(PRF1):c.435G>A (p.Val145=) http://identifiers.org/clinvar/260480 ^@ NM_014956.4(CEP164):c.2772C>G (p.Leu924=) http://identifiers.org/clinvar/258490 ^@ NM_001909.4(CTSD):c.828-17G>A http://identifiers.org/clinvar/261630 ^@ NM_022725.3(FANCF):c.-10C>T http://identifiers.org/clinvar/259140 ^@ NM_003737.3(DCHS1):c.5846C>T (p.Thr1949Met) http://identifiers.org/clinvar/258640 ^@ NM_002335.3(LRP5):c.3989C>T (p.Ala1330Val) http://identifiers.org/clinvar/261680 ^@ NM_024079.4(ALG8):c.478+35A>T http://identifiers.org/clinvar/261230 ^@ NM_020376.3(PNPLA2):c.1149G>A (p.Arg383=) http://identifiers.org/clinvar/258240 ^@ NM_001844.4(COL2A1):c.4317+43C>T http://identifiers.org/clinvar/255751 ^@ NM_000289.5(PFKM):c.1500+32C>T http://identifiers.org/clinvar/254712 ^@ NM_000020.2(ACVRL1):c.772+27G>C http://identifiers.org/clinvar/256701 ^@ NM_000552.4(VWF):c.7887+12T>C http://identifiers.org/clinvar/256651 ^@ NM_000552.4(VWF):c.1182A>C (p.Ser394=) http://identifiers.org/clinvar/261830 ^@ NM_025114.3(CEP290):c.2016A>G (p.Thr672=) http://identifiers.org/clinvar/254762 ^@ NM_000053.3(ATP7B):c.2146G>A (p.Val716Ile) http://identifiers.org/clinvar/261430 ^@ NM_021914.7(CFL2):c.15T>C (p.Val5=) http://identifiers.org/clinvar/261380 ^@ NM_020937.3(FANCM):c.1041G>A (p.Pro347=) http://identifiers.org/clinvar/258840 ^@ NM_002863.4(PYGL):c.2380-9T>C http://identifiers.org/clinvar/256101 ^@ NM_000428.2(LTBP2):c.956C>A (p.Pro319Gln) http://identifiers.org/clinvar/257251 ^@ NM_001040108.1(MLH3):c.2476A>G (p.Asn826Asp) http://identifiers.org/clinvar/258590 ^@ NM_002225.3(IVD):c.1074+41A>G http://identifiers.org/clinvar/254862 ^@ NM_000070.2(CAPN3):c.1668C>T (p.Ile556=) http://identifiers.org/clinvar/255651 ^@ NM_000259.3(MYO5A):c.3849+7G>A http://identifiers.org/clinvar/332936 ^@ NM_133378.4(TTN):c.10481G>A (p.Arg3494Gln) http://identifiers.org/clinvar/336394 ^@ NM_002354.2(EPCAM):c.-349G>T http://identifiers.org/clinvar/336644 ^@ NM_001039348.2(EFEMP1):c.-269G>A http://identifiers.org/clinvar/334076 ^@ NM_000384.2(APOB):c.12444C>A (p.Ala4148=) http://identifiers.org/clinvar/333925 ^@ NM_015040.3(PIKFYVE):c.4814T>G (p.Val1605Gly) http://identifiers.org/clinvar/336494 ^@ NM_000145.3(FSHR):c.-58T>C http://identifiers.org/clinvar/333975 ^@ NM_015040.3(PIKFYVE):c.*2693A>G http://identifiers.org/clinvar/336594 ^@ NM_001135659.2(NRXN1):c.-1457_-1448delCTCTCTTTCT http://identifiers.org/clinvar/336694 ^@ NM_002618.3(PEX13):c.*1724A>T http://identifiers.org/clinvar/336744 ^@ NM_032180.2(FAM161A):c.321A>G (p.Ile107Met) http://identifiers.org/clinvar/334227 ^@ NM_173076.2(ABCA12):c.6356T>G (p.Val2119Gly) http://identifiers.org/clinvar/342363 ^@ NM_033084.4(FANCD2):c.1874C>T (p.Pro625Leu) http://identifiers.org/clinvar/337533 ^@ NM_014014.4(SNRNP200):c.5418C>T (p.Asp1806=) http://identifiers.org/clinvar/337583 ^@ NM_020184.3(CNNM4):c.591C>T (p.Gly197=) http://identifiers.org/clinvar/337633 ^@ NM_001079.3(ZAP70):c.837+6T>C http://identifiers.org/clinvar/343163 ^@ NM_004637.5(RAB7A):c.*165A>T http://identifiers.org/clinvar/343263 ^@ NM_052985.3(IFT122):c.3405C>T (p.Ser1135=) http://identifiers.org/clinvar/343513 ^@ NM_024334.2(TMEM43):c.*262C>T http://identifiers.org/clinvar/343763 ^@ NM_000096.3(CP):c.1774C>T (p.Leu592Phe) http://identifiers.org/clinvar/342963 ^@ NM_000373.3(UMPS):c.*1520delA http://identifiers.org/clinvar/343213 ^@ NM_014049.4(ACAD9):c.*331T>G http://identifiers.org/clinvar/350642 ^@ NM_032446.2(MEGF10):c.755A>G (p.Glu252Gly) http://identifiers.org/clinvar/350742 ^@ NM_001999.3(FBN2):c.*671G>A http://identifiers.org/clinvar/350692 ^@ NM_032446.2(MEGF10):c.*1496T>C http://identifiers.org/clinvar/350892 ^@ NM_000358.2(TGFBI):c.1584G>A (p.Thr528=) http://identifiers.org/clinvar/350842 ^@ NM_014402.4(UQCRQ):c.*236C>G http://identifiers.org/clinvar/350992 ^@ NM_017415.2(KLHL3):c.770C>G (p.Ala257Gly) http://identifiers.org/clinvar/355068 ^@ NM_000493.3(COL10A1):c.*1042A>G http://identifiers.org/clinvar/351192 ^@ NM_001369.2(DNAH5):c.3315C>A (p.Asn1105Lys) http://identifiers.org/clinvar/351242 ^@ NM_002109.5(HARS):c.103G>A (p.Val35Met) http://identifiers.org/clinvar/351492 ^@ NM_054027.4(ANKH):c.*405G>A http://identifiers.org/clinvar/355669 ^@ NM_203395.2(IYD):c.-113T>G http://identifiers.org/clinvar/351642 ^@ NM_024577.3(SH3TC2):c.*16056C>T http://identifiers.org/clinvar/351442 ^@ NM_054027.4(ANKH):c.*2699G>C http://identifiers.org/clinvar/351542 ^@ NM_054027.4(ANKH):c.681G>A (p.Glu227=) http://identifiers.org/clinvar/351692 ^@ NM_024577.3(SH3TC2):c.*11542G>A http://identifiers.org/clinvar/355819 ^@ NM_033071.3(SYNE1):c.23530G>A (p.Asp7844Asn) http://identifiers.org/clinvar/351842 ^@ NM_024577.3(SH3TC2):c.*3079G>A http://identifiers.org/clinvar/351742 ^@ NM_024577.3(SH3TC2):c.*9233T>A http://identifiers.org/clinvar/356019 ^@ NM_004562.2(PRKN):c.522C>T (p.Leu174=) http://identifiers.org/clinvar/356069 ^@ NM_198586.2(NHLRC1):c.*336G>A http://identifiers.org/clinvar/356369 ^@ NM_148919.3(PSMB8):c.129T>C (p.Ala43=) http://identifiers.org/clinvar/356419 ^@ NM_001014.4(RPS10):c.408C>T (p.Ala136=) http://identifiers.org/clinvar/356569 ^@ NM_001145717.1(PNPLA1):c.953G>A (p.Gly318Glu) http://identifiers.org/clinvar/356719 ^@ NM_002098.5(GUCA1B):c.*488C>T http://identifiers.org/clinvar/356769 ^@ NM_000322.4(PRPH2):c.*276G>C http://identifiers.org/clinvar/356919 ^@ NM_006502.2(POLH):c.*371A>G http://identifiers.org/clinvar/352979 ^@ NM_003052.4(SLC34A1):c.*179G>A http://identifiers.org/clinvar/353179 ^@ NM_003900.4(SQSTM1):c.*987G>A http://identifiers.org/clinvar/353029 ^@ NM_017838.3(NHP2):c.-10G>T http://identifiers.org/clinvar/353229 ^@ NM_014324.5(AMACR):c.*1727G>T http://identifiers.org/clinvar/353079 ^@ NM_014244.4(ADAMTS2):c.*222C>T http://identifiers.org/clinvar/353329 ^@ NM_004172.4(SLC1A3):c.*174delG http://identifiers.org/clinvar/361157 ^@ NM_015713.4(RRM2B):c.*1601A>G http://identifiers.org/clinvar/361357 ^@ NM_178857.5(RP1L1):c.2157G>C (p.Leu719=) http://identifiers.org/clinvar/353429 ^@ NM_023073.3(C5orf42):c.7866C>T (p.Ser2622=) http://identifiers.org/clinvar/353479 ^@ NM_000514.3(GDNF):c.*2204G>T http://identifiers.org/clinvar/306353 ^@ NM_012193.3(FZD4):c.*3888G>A http://identifiers.org/clinvar/299909 ^@ NM_020975.4(RET):c.*446A>G http://identifiers.org/clinvar/363856 ^@ NM_019098.4(CNGB3):c.*735A>G http://identifiers.org/clinvar/363906 ^@ NM_002485.4(NBN):c.*522T>C http://identifiers.org/clinvar/300059 ^@ NM_000124.3(ERCC6):c.2741C>T (p.Thr914Met) http://identifiers.org/clinvar/364256 ^@ NM_001701.3(BAAT):c.*1218A>G http://identifiers.org/clinvar/364006 ^@ NM_001001557.3(GDF6):c.*2214C>T http://identifiers.org/clinvar/361057 ^@ NM_017890.4(VPS13B):c.3436C>G (p.Leu1146Val) http://identifiers.org/clinvar/306703 ^@ NM_002465.3(MYBPC1):c.-93C>T http://identifiers.org/clinvar/306753 ^@ NM_002465.3(MYBPC1):c.*144C>G http://identifiers.org/clinvar/306803 ^@ NM_024312.4(GNPTAB):c.2665T>C (p.Leu889=) http://identifiers.org/clinvar/364306 ^@ NM_000035.3(ALDOB):c.*69C>T http://identifiers.org/clinvar/300409 ^@ NM_022124.5(CDH23):c.1778A>C (p.Asn593Thr) http://identifiers.org/clinvar/364556 ^@ NM_003640.4(IKBKAP):c.3513T>C (p.Ser1171=) http://identifiers.org/clinvar/364456 ^@ NM_005502.3(ABCA1):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/364506 ^@ NM_001079802.1(FKTN):c.*2505A>G http://identifiers.org/clinvar/307642 ^@ NM_012463.3(ATP6V0A2):c.*3425G>A http://identifiers.org/clinvar/300759 ^@ NM_002658.4(PLAU):c.1053C>T (p.Tyr351=) http://identifiers.org/clinvar/364606 ^@ NM_005592.3(MUSK):c.1102C>T (p.Pro368Ser) http://identifiers.org/clinvar/364656 ^@ NM_000031.5(ALAD):c.15C>T (p.Ser5=) http://identifiers.org/clinvar/364756 ^@ NM_018249.5(CDK5RAP2):c.4005-10A>G http://identifiers.org/clinvar/301159 ^@ NM_000429.2(MAT1A):c.*1092C>G http://identifiers.org/clinvar/308292 ^@ NM_139241.3(FGD4):c.993+8G>A http://identifiers.org/clinvar/308742 ^@ NM_016123.3(IRAK4):c.*989T>G http://identifiers.org/clinvar/365745 ^@ NM_000093.4(COL5A1):c.*235C>T http://identifiers.org/clinvar/366196 ^@ NM_003070.4(SMARCA2):c.483G>T (p.Pro161=) http://identifiers.org/clinvar/302148 ^@ NM_001025389.1(AMPD3):c.283G>A (p.Asp95Asn) http://identifiers.org/clinvar/302198 ^@ NM_000019.3(ACAT1):c.29G>A (p.Ser10Asn) http://identifiers.org/clinvar/302248 ^@ NM_000051.3(ATM):c.4235C>T (p.Pro1412Leu) http://identifiers.org/clinvar/366396 ^@ NM_000459.4(TEK):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/366496 ^@ NM_001256054.2(C9orf72):c.*577G>C http://identifiers.org/clinvar/302448 ^@ NM_001931.4(DLAT):c.-137G>A http://identifiers.org/clinvar/302548 ^@ NM_001558.3(IL10RA):c.670A>G (p.Ile224Val) http://identifiers.org/clinvar/366596 ^@ NM_175073.2(APTX):c.134-12A>C http://identifiers.org/clinvar/366296 ^@ NM_002451.3(MTAP):c.*2522A>G http://identifiers.org/clinvar/366696 ^@ NM_000155.3(GALT):c.-38G>A http://identifiers.org/clinvar/366796 ^@ NM_005476.5(GNE):c.*2847T>C http://identifiers.org/clinvar/367046 ^@ NM_004170.5(SLC1A1):c.582+6A>G http://identifiers.org/clinvar/314285 ^@ NM_000428.2(LTBP2):c.3176C>A (p.Ala1059Asp) http://identifiers.org/clinvar/312696 ^@ NM_022489.3(INF2):c.1865G>A (p.Arg622Gln) http://identifiers.org/clinvar/340574 ^@ NM_014339.6(IL17RA):c.551-9G>T http://identifiers.org/clinvar/314485 ^@ NM_004452.3(ESRRB):c.514+15C>T http://identifiers.org/clinvar/314535 ^@ NM_013382.5(POMT2):c.*927G>C http://identifiers.org/clinvar/313535 ^@ NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp) http://identifiers.org/clinvar/313735 ^@ NM_000347.5(SPTB):c.3780C>T (p.Asn1260=) http://identifiers.org/clinvar/313785 ^@ NM_000347.5(SPTB):c.26A>C (p.Asn9Thr) http://identifiers.org/clinvar/313835 ^@ NM_152443.2(RDH12):c.-152A>G http://identifiers.org/clinvar/313935 ^@ NM_015346.3(ZFYVE26):c.30T>G (p.Ala10=) http://identifiers.org/clinvar/313985 ^@ NM_000021.3(PSEN1):c.*2529G>T http://identifiers.org/clinvar/314185 ^@ NM_005589.3(ALDH6A1):c.112-11_112-8delGTTT http://identifiers.org/clinvar/314235 ^@ NM_006432.3(NPC2):c.*295C>G http://identifiers.org/clinvar/314335 ^@ NM_014239.3(EIF2B2):c.708G>A (p.Thr236=) http://identifiers.org/clinvar/314385 ^@ NM_001040108.1(MLH3):c.2167G>A (p.Val723Ile) http://identifiers.org/clinvar/368314 ^@ NM_006915.2(RP2):c.*958A>C http://identifiers.org/clinvar/316324 ^@ NM_000138.4(FBN1):c.*1706C>A http://identifiers.org/clinvar/368364 ^@ NM_153380.3(ZNF41):c.1398G>A (p.Pro466=) http://identifiers.org/clinvar/368464 ^@ NM_003179.2(SYP):c.*237G>A http://identifiers.org/clinvar/316524 ^@ NM_182758.3(WDR72):c.*2605_*2612dupGTGTGTGT http://identifiers.org/clinvar/316574 ^@ NM_182758.3(WDR72):c.*96T>C http://identifiers.org/clinvar/368564 ^@ NM_006306.3(SMC1A):c.*2973C>T http://identifiers.org/clinvar/316674 ^@ NM_000236.2(LIPC):c.1098A>G (p.Thr366=) http://identifiers.org/clinvar/368714 ^@ NM_153252.4(BRWD3):c.*1895C>G http://identifiers.org/clinvar/314685 ^@ NM_004863.3(SPTLC2):c.-43C>T http://identifiers.org/clinvar/324468 ^@ NM_000334.4(SCN4A):c.*1916C>T http://identifiers.org/clinvar/317174 ^@ NM_003978.4(PSTPIP1):c.475G>C (p.Glu159Gln) http://identifiers.org/clinvar/324868 ^@ NM_000891.2(KCNJ2):c.*1794C>A http://identifiers.org/clinvar/317274 ^@ NM_001113378.1(FANCI):c.1294-8C>T http://identifiers.org/clinvar/325518 ^@ NM_004870.3(MPDU1):c.508-9C>T http://identifiers.org/clinvar/315185 ^@ NM_139057.3(ADAMTS17):c.*1448C>T http://identifiers.org/clinvar/325468 ^@ NM_024599.5(RHBDF2):c.28A>C (p.Ser10Arg) http://identifiers.org/clinvar/325618 ^@ NM_006640.4(SEPT9):c.*1900A>G http://identifiers.org/clinvar/316374 ^@ NM_000138.4(FBN1):c.4336+11G>A http://identifiers.org/clinvar/372831 ^@ NM_001256850.1(TTN):c.60049+1G>T http://identifiers.org/clinvar/372935 ^@ NM_002880.3(RAF1):c.1016G>A (p.Ser339Asn) http://identifiers.org/clinvar/373135 ^@ NM_145207.2(SPATA5):c.1073delT (p.Leu358Terfs) http://identifiers.org/clinvar/373035 ^@ NM_147127.4(EVC2):c.264C>A (p.Cys88Ter) http://identifiers.org/clinvar/373335 ^@ NM_025074.6(FRAS1):c.1306G>A (p.Asp436Asn) http://identifiers.org/clinvar/372985 ^@ NM_001332.3(CTNND2):c.470A>G (p.Gln157Arg) http://identifiers.org/clinvar/373685 ^@ NM_004387.3(NKX2-5):c.474G>T (p.Lys158Asn) http://identifiers.org/clinvar/373235 ^@ NM_014244.4(ADAMTS2):c.935A>G (p.Asn312Ser) http://identifiers.org/clinvar/373585 ^@ NM_024596.4(MCPH1):c.145C>G (p.His49Asp) http://identifiers.org/clinvar/372882 ^@ NM_020732.3(ARID1B):c.2371G>A (p.Gly791Ser) http://identifiers.org/clinvar/373085 ^@ NM_000138.4(FBN1):c.6164-2A>G http://identifiers.org/clinvar/373785 ^@ NM_002474.2(MYH11):c.5261C>T (p.Ala1754Val) http://identifiers.org/clinvar/373385 ^@ NM_002474.2(MYH11):c.3781G>A (p.Val1261Met) http://identifiers.org/clinvar/373285 ^@ NM_000267.3(NF1):c.4773-1G>A http://identifiers.org/clinvar/373435 ^@ NM_000018.3(ACADVL):c.1678+4A>T http://identifiers.org/clinvar/373535 ^@ NM_001127221.1(CACNA1A):c.55G>A (p.Ala19Thr) http://identifiers.org/clinvar/373485 ^@ NM_130445.3(COL18A1):c.3404C>T (p.Pro1135Leu) http://identifiers.org/clinvar/372779 ^@ NM_015629.3(PRPF31):c.527+1G>T http://identifiers.org/clinvar/373635 ^@ NM_004975.3(KCNB1):c.2411C>T (p.Thr804Ile) http://identifiers.org/clinvar/373735 ^@ NM_001396.3(DYRK1A):c.577_579delAAGinsTTCTT (p.Lys193Phefs) http://identifiers.org/clinvar/373185 ^@ NM_007075.3(WDR45):c.830+5G>A http://identifiers.org/clinvar/373835 ^@ NG_005905.2:g.110966_142550del http://identifiers.org/clinvar/373885 ^@ NG_005905.2:g.(?_92501)_(126550_126951)del http://identifiers.org/clinvar/374038 ^@ NM_001288705.1(CSF1R):c.647G>A (p.Arg216Gln) http://identifiers.org/clinvar/373988 ^@ NM_003995.3(NPR2):c.779A>T (p.Glu260Val) http://identifiers.org/clinvar/374088 ^@ NM_001164178.1(ENTPD1):c.61G>A (p.Val21Met) http://identifiers.org/clinvar/373938 ^@ NM_000363.4(TNNI3):c.194C>T (p.Ala65Val) http://identifiers.org/clinvar/374829 ^@ NM_004341.4(CAD):c.98T>G (p.Met33Arg) http://identifiers.org/clinvar/374879 ^@ NM_016011.3(MECR):c.855T>G (p.Tyr285Ter) http://identifiers.org/clinvar/374946 ^@ NM_000098.2(CPT2):c.921G>A (p.Met307Ile) http://identifiers.org/clinvar/375216 ^@ NM_000248.3(MITF):c.649A>G (p.Arg217Gly) http://identifiers.org/clinvar/375277 ^@ NM_139132.3(NUP98):c.4985A>G (p.Asn1662Ser) http://identifiers.org/clinvar/375331 ^@ NM_020247.4(COQ8A):c.1523T>C (p.Phe508Ser) http://identifiers.org/clinvar/375382 ^@ NM_133496.4(SLC30A7):c.490_491delCAinsAG (p.His164Ser) http://identifiers.org/clinvar/375437 ^@ NM_153427.2(PITX2):c.191C>T (p.Pro64Leu) http://identifiers.org/clinvar/375563 ^@ NM_173494.1(PIH1D3):c.355C>T (p.Gln119Ter) http://identifiers.org/clinvar/375623 ^@ NM_001197104.1(KMT2A):c.4696+1G>A http://identifiers.org/clinvar/375674 ^@ NM_016239.3(MYO15A):c.3932T>C (p.Ile1311Thr) http://identifiers.org/clinvar/375768 ^@ NM_015295.2(SMCHD1):c.404G>T (p.Ser135Ile) http://identifiers.org/clinvar/375818 ^@ NM_000527.4(LDLR):c.1571_1572delTG (p.Val524Glyfs) http://identifiers.org/clinvar/375871 ^@ NM_002524.4(NRAS):c.183A>C (p.Gln61His) http://identifiers.org/clinvar/375921 ^@ NM_000222.2(KIT):c.1961T>C (p.Val654Ala) http://identifiers.org/clinvar/378280 ^@ NM_001135659.2(NRXN1):c.-22C>A http://identifiers.org/clinvar/382973 ^@ NM_033109.4(PNPT1):c.1248-16T>C http://identifiers.org/clinvar/380128 ^@ NM_000251.2(MSH2):c.6G>C (p.Ala2=) http://identifiers.org/clinvar/392853 ^@ NM_001256850.1(TTN):c.4602C>T (p.Asn1534=) http://identifiers.org/clinvar/381131 ^@ NM_000251.2(MSH2):c.645+8A>T http://identifiers.org/clinvar/390464 ^@ NM_000251.2(MSH2):c.2343A>C (p.Ala781=) http://identifiers.org/clinvar/386215 ^@ NM_000179.2(MSH6):c.546C>T (p.Ala182=) http://identifiers.org/clinvar/380880 ^@ NM_183357.2(ADCY5):c.2000T>A (p.Ile667Asn) http://identifiers.org/clinvar/384375 ^@ NM_001875.4(CPS1):c.1116C>T (p.Phe372=) http://identifiers.org/clinvar/390264 ^@ NM_033109.4(PNPT1):c.423C>T (p.Leu141=) http://identifiers.org/clinvar/391953 ^@ NM_015120.4(ALMS1):c.825T>C (p.Ser275=) http://identifiers.org/clinvar/392353 ^@ NM_015120.4(ALMS1):c.1710A>G (p.Thr570=) http://identifiers.org/clinvar/384826 ^@ NM_000551.3(VHL):c.-40C>T http://identifiers.org/clinvar/382923 ^@ NM_032806.5(POMGNT2):c.-106+19T>C http://identifiers.org/clinvar/390664 ^@ NM_004393.5(DAG1):c.2610A>C (p.Thr870=) http://identifiers.org/clinvar/378738 ^@ NM_003280.2(TNNC1):c.317+9G>A http://identifiers.org/clinvar/382573 ^@ NM_000249.3(MLH1):c.884+12C>T http://identifiers.org/clinvar/390814 ^@ NM_000249.3(MLH1):c.573T>C (p.Ser191=) http://identifiers.org/clinvar/383424 ^@ NM_000249.3(MLH1):c.1815A>G (p.Glu605=) http://identifiers.org/clinvar/392553 ^@ NM_001148.4(ANK2):c.11436C>T (p.Leu3812=) http://identifiers.org/clinvar/390114 ^@ NM_006514.3(SCN10A):c.3805-12A>G http://identifiers.org/clinvar/384075 ^@ NM_001135659.2(NRXN1):c.963A>G (p.Gly321=) http://identifiers.org/clinvar/393053 ^@ NM_002618.3(PEX13):c.446C>G (p.Ala149Gly) http://identifiers.org/clinvar/389914 ^@ NM_000038.5(APC):c.4867A>C (p.Arg1623=) http://identifiers.org/clinvar/380729 ^@ NM_001148.4(ANK2):c.4371+6G>A http://identifiers.org/clinvar/391014 ^@ NM_147127.4(EVC2):c.2707-13A>T http://identifiers.org/clinvar/384976 ^@ NM_015697.7(COQ2):c.1194C>T (p.Val398=) http://identifiers.org/clinvar/384325 ^@ NM_000038.5(APC):c.4317T>A (p.Pro1439=) http://identifiers.org/clinvar/378636 ^@ NM_003106.3(SOX2):c.-31C>T http://identifiers.org/clinvar/386115 ^@ NM_000426.3(LAMA2):c.9211+17C>T http://identifiers.org/clinvar/378130 ^@ NM_002397.4(MEF2C):c.402+75G>T http://identifiers.org/clinvar/393003 ^@ NM_019105.6(TNXB):c.8519C>T (p.Pro2840Leu) http://identifiers.org/clinvar/380830 ^@ NM_001098511.2(KIF2A):c.1761-11T>C http://identifiers.org/clinvar/390914 ^@ NM_001458.4(FLNC):c.2389+4C>T http://identifiers.org/clinvar/393203 ^@ NM_000168.5(GLI3):c.2331C>T (p.His777=) http://identifiers.org/clinvar/381281 ^@ NM_006005.3(WFS1):c.1302C>T (p.Val434=) http://identifiers.org/clinvar/384275 ^@ NM_001458.4(FLNC):c.1797C>T (p.Thr599=) http://identifiers.org/clinvar/391164 ^@ NM_012079.5(DGAT1):c.1260C>G (p.Ser420Arg) http://identifiers.org/clinvar/390964 ^@ NM_001018116.2(CAVIN4):c.408+6C>A http://identifiers.org/clinvar/390514 ^@ NM_001130438.2(SPTAN1):c.117G>A (p.Lys39=) http://identifiers.org/clinvar/393103 ^@ NM_000535.6(PMS2):c.1376C>G (p.Ser459Ter) http://identifiers.org/clinvar/382873 ^@ NM_000445.4(PLEC):c.2037C>T (p.Thr679=) http://identifiers.org/clinvar/379038 ^@ NM_000535.6(PMS2):c.258A>G (p.Lys86=) http://identifiers.org/clinvar/382773 ^@ NM_006059.3(LAMC3):c.1940-10C>T http://identifiers.org/clinvar/391114 ^@ NM_020822.2(KCNT1):c.963G>A (p.Thr321=) http://identifiers.org/clinvar/392153 ^@ NM_003640.4(IKBKAP):c.-64G>A http://identifiers.org/clinvar/380479 ^@ NM_017780.3(CHD7):c.7332A>G (p.Leu2444=) http://identifiers.org/clinvar/379088 ^@ NM_001130438.2(SPTAN1):c.1593C>G (p.Thr531=) http://identifiers.org/clinvar/385276 ^@ NM_000368.4(TSC1):c.2898T>C (p.Tyr966=) http://identifiers.org/clinvar/392953 ^@ NM_000368.4(TSC1):c.2392-14G>A http://identifiers.org/clinvar/378686 ^@ NM_003165.3(STXBP1):c.902+18C>G http://identifiers.org/clinvar/391903 ^@ NM_004612.3(TGFBR1):c.35T>C (p.Leu12Pro) http://identifiers.org/clinvar/133028 ^@ NM_000540.2(RYR1):c.1201C>G (p.Arg401Gly) http://identifiers.org/clinvar/133128 ^@ NM_000540.2(RYR1):c.35_37delTCCinsCG (p.Phe12Serfs) http://identifiers.org/clinvar/133178 ^@ NM_000540.2(RYR1):c.7032G>C (p.Glu2344Asp) http://identifiers.org/clinvar/133228 ^@ NM_000540.2(RYR1):c.8541+37T>G http://identifiers.org/clinvar/133307 ^@ NM_133433.3(NIPBL):c.5378T>G (p.Met1793Arg) http://identifiers.org/clinvar/133370 ^@ NM_024408.3(NOTCH2):c.2479+34G>A http://identifiers.org/clinvar/133420 ^@ NM_000546.5(TP53):c.672+31A>G http://identifiers.org/clinvar/133470 ^@ NM_004304.4(ALK):c.3182G>A (p.Arg1061Gln) http://identifiers.org/clinvar/133521 ^@ NM_000038.5(APC):c.6958C>T (p.Pro2320Ser) http://identifiers.org/clinvar/134216 ^@ NM_207122.1(EXT2):c.1123A>G (p.Ser375Gly) http://identifiers.org/clinvar/134266 ^@ NM_000135.2(FANCA):c.3422C>A (p.Ala1141Asp) http://identifiers.org/clinvar/134317 ^@ NM_001018115.2(FANCD2):c.2567C>G (p.Thr856Ser) http://identifiers.org/clinvar/134368 ^@ NM_004629.1(FANCG):c.863G>T (p.Arg288Met) http://identifiers.org/clinvar/134418 ^@ NM_000143.3(FH):c.1303G>A (p.Val435Met) http://identifiers.org/clinvar/134468 ^@ NM_001145661.1(GATA2):c.787G>A (p.Gly263Arg) http://identifiers.org/clinvar/134518 ^@ NM_001282386.1(IDH1):c.565A>G (p.Ile189Val) http://identifiers.org/clinvar/134568 ^@ NM_000215.3(JAK3):c.1739C>T (p.Ser580Leu) http://identifiers.org/clinvar/134618 ^@ NM_002253.2(KDR):c.1151C>T (p.Thr384Met) http://identifiers.org/clinvar/134670 ^@ NM_003482.3(KMT2D):c.3180_3181delGGinsTT (p.Lys1060_Val1061delinsAsnLeu) http://identifiers.org/clinvar/134721 ^@ NM_003482.3(KMT2D):c.13220T>C (p.Val4407Ala) http://identifiers.org/clinvar/134771 ^@ NM_170606.2(KMT2C):c.8459A>G (p.Asn2820Ser) http://identifiers.org/clinvar/134821 ^@ NM_005373.2(MPL):c.209C>T (p.Pro70Leu) http://identifiers.org/clinvar/134875 ^@ NM_002485.4(NBN):c.520C>A (p.Pro174Thr) http://identifiers.org/clinvar/134925 ^@ NM_017617.4(NOTCH1):c.3211G>A (p.Gly1071Ser) http://identifiers.org/clinvar/134975 ^@ NM_024408.3(NOTCH2):c.4238T>A (p.Leu1413His) http://identifiers.org/clinvar/135025 ^@ NM_006206.4(PDGFRA):c.499G>A (p.Val167Met) http://identifiers.org/clinvar/135076 ^@ NM_001198.3(PRDM1):c.609C>G (p.Asp203Glu) http://identifiers.org/clinvar/135127 ^@ NM_004260.3(RECQL4):c.1652C>T (p.Ala551Val) http://identifiers.org/clinvar/135178 ^@ NM_020975.4(RET):c.2348A>C (p.Asn783Thr) http://identifiers.org/clinvar/135208 ^@ NM_014159.6(SETD2):c.7352C>T (p.Ala2451Val) http://identifiers.org/clinvar/135259 ^@ NM_005631.4(SMO):c.2060C>T (p.Pro687Leu) http://identifiers.org/clinvar/135309 ^@ NM_001127208.2(TET2):c.1088C>T (p.Pro363Leu) http://identifiers.org/clinvar/135359 ^@ NM_000546.5(TP53):c.638G>A (p.Arg213Gln) http://identifiers.org/clinvar/135410 ^@ NM_000377.2(WAS):c.995T>C (p.Val332Ala) http://identifiers.org/clinvar/135460 ^@ NM_000380.3(XPA):c.766A>G (p.Met256Val) http://identifiers.org/clinvar/135510 ^@ NM_015247.2(CYLD):c.2041+50C>A http://identifiers.org/clinvar/135560 ^@ NM_001127500.2(MET):c.1965+20A>G http://identifiers.org/clinvar/135635 ^@ NM_032147.4(USP44):c.213G>T (p.Glu71Asp) http://identifiers.org/clinvar/135695 ^@ NM_000038.5(APC):c.295C>T (p.Arg99Trp) http://identifiers.org/clinvar/135746 ^@ NM_000051.3(ATM):c.2805G>C (p.Thr935=) http://identifiers.org/clinvar/135803 ^@ NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) http://identifiers.org/clinvar/135855 ^@ NM_000251.2(MSH2):c.1935A>C (p.Gln645His) http://identifiers.org/clinvar/135905 ^@ NM_000264.3(PTCH1):c.56G>T (p.Gly19Val) http://identifiers.org/clinvar/135955 ^@ NM_000551.3(VHL):c.280G>A (p.Glu94Lys) http://identifiers.org/clinvar/136007 ^@ NM_001166110.1(PALLD):c.437T>G (p.Leu146Arg) http://identifiers.org/clinvar/136057 ^@ NM_004360.4(CDH1):c.1224G>A (p.Ala408=) http://identifiers.org/clinvar/136158 ^@ NM_058216.2(RAD51C):c.408G>A (p.Met136Ile) http://identifiers.org/clinvar/136219 ^@ NM_020745.3(AARS2):c.2598+16G>T http://identifiers.org/clinvar/136270 ^@ NM_174917.4(ACSF3):c.49G>C (p.Ala17Pro) http://identifiers.org/clinvar/136320 ^@ NM_004208.3(AIFM1):c.918C>T (p.Ile306=) http://identifiers.org/clinvar/136371 ^@ NM_001182.4(ALDH7A1):c.774-19C>T http://identifiers.org/clinvar/185310 ^@ NM_002878.3(RAD51D):c.491T>C (p.Leu164Pro) http://identifiers.org/clinvar/185760 ^@ NM_002878.3(RAD51D):c.330dupT (p.Ser111Terfs) http://identifiers.org/clinvar/185660 ^@ NM_007294.3(BRCA1):c.5328C>T (p.Pro1776=) http://identifiers.org/clinvar/186010 ^@ NM_007294.3(BRCA1):c.4851T>C (p.Ala1617=) http://identifiers.org/clinvar/186110 ^@ NM_007294.3(BRCA1):c.1724A>G (p.Glu575Gly) http://identifiers.org/clinvar/185710 ^@ NM_032043.2(BRIP1):c.2028G>C (p.Val676=) http://identifiers.org/clinvar/185960 ^@ NM_032043.2(BRIP1):c.1734A>G (p.Lys578=) http://identifiers.org/clinvar/186360 ^@ NM_000546.5(TP53):c.696C>T (p.Ile232=) http://identifiers.org/clinvar/185860 ^@ NM_000546.5(TP53):c.511_515dupGAGGT (p.Val173Argfs) http://identifiers.org/clinvar/186561 ^@ NM_007194.3(CHEK2):c.580A>T (p.Ser194Cys) http://identifiers.org/clinvar/185460 ^@ NM_007194.3(CHEK2):c.32A>C (p.Gln11Pro) http://identifiers.org/clinvar/187812 ^@ NM_014795.3(ZEB2):c.2398dupT (p.Ser800Phefs) http://identifiers.org/clinvar/187884 ^@ NM_005957.4(MTHFR):c.769T>G (p.Phe257Val) http://identifiers.org/clinvar/187934 ^@ NM_004409.4(DMPK):c.*224_*226[194] http://identifiers.org/clinvar/187984 ^@ NM_004409.4(DMPK):c.*224_*226[448] http://identifiers.org/clinvar/188034 ^@ NM_004409.4(DMPK):c.*224_*226[82] http://identifiers.org/clinvar/188186 ^@ NM_000249.3(MLH1):c.1853A>T (p.Lys618Met) http://identifiers.org/clinvar/188291 ^@ NM_000038.5(APC):c.5573G>A (p.Arg1858Gln) http://identifiers.org/clinvar/188238 ^@ NM_001277115.1(DNAH11):c.5185C>T (p.Pro1729Ser) http://identifiers.org/clinvar/188135 ^@ NM_000264.3(PTCH1):c.4199G>A (p.Gly1400Asp) http://identifiers.org/clinvar/188345 ^@ NM_000075.3(CDK4):c.886C>T (p.His296Tyr) http://identifiers.org/clinvar/188084 ^@ NM_025137.3(SPG11):c.4687A>G (p.Arg1563Gly) http://identifiers.org/clinvar/188402 ^@ NM_032043.2(BRIP1):c.3374_3376delCAG (p.Ala1125del) http://identifiers.org/clinvar/188454 ^@ NM_004415.3(DSP):c.422+24G>A http://identifiers.org/clinvar/188554 ^@ NM_000256.3(MYBPC3):c.1625-27_1691del http://identifiers.org/clinvar/188654 ^@ NM_004572.3(PKP2):c.337-2A>T http://identifiers.org/clinvar/188604 ^@ NM_000257.3(MYH7):c.895+28A>C http://identifiers.org/clinvar/188504 ^@ NM_001110792.1(MECP2):c.1289_1492del204 (p.Met430_Val497del) http://identifiers.org/clinvar/189735 ^@ NM_001110792.1(MECP2):c.942_1174del233insAC (p.Ile315_Val392delinsLeu) http://identifiers.org/clinvar/189789 ^@ NM_003673.3(TCAP):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/190395 ^@ NM_001288953.1(TTC7A):c.109G>A (p.Glu37Lys) http://identifiers.org/clinvar/227560 ^@ NM_001018116.2(CAVIN4):c.868A>C (p.Arg290=) http://identifiers.org/clinvar/227330 ^@ NM_014908.3(DOLK):c.1035A>G (p.Val345=) http://identifiers.org/clinvar/228011 ^@ NM_138691.2(TMC1):c.1566+8C>T http://identifiers.org/clinvar/227229 ^@ NM_022124.5(CDH23):c.5442C>T (p.Ile1814=) http://identifiers.org/clinvar/227760 ^@ NM_001277269.1(OTOG):c.1060C>T (p.Leu354=) http://identifiers.org/clinvar/227430 ^@ NM_005343.3(HRAS):c.468C>T (p.Phe156=) http://identifiers.org/clinvar/227179 ^@ NM_004316.3(ASCL1):c.184_186delCAG (p.Gln62del) http://identifiers.org/clinvar/227660 ^@ NM_005379.3(MYO1A):c.48G>T (p.Leu16=) http://identifiers.org/clinvar/227810 ^@ NM_173591.3(OTOGL):c.1084C>T (p.His362Tyr) http://identifiers.org/clinvar/227961 ^@ NM_152594.2(SPRED1):c.1110C>G (p.Leu370=) http://identifiers.org/clinvar/228261 ^@ NM_000138.4(FBN1):c.1714+2delT http://identifiers.org/clinvar/226678 ^@ NM_001130089.1(KARS):c.1163-7C>T http://identifiers.org/clinvar/227530 ^@ NM_144612.6(LOXHD1):c.6192G>A (p.Lys2064=) http://identifiers.org/clinvar/227380 ^@ NM_133261.2(GIPC3):c.315C>T (p.His105=) http://identifiers.org/clinvar/227610 ^@ NM_002473.5(MYH9):c.4023C>T (p.Phe1341=) http://identifiers.org/clinvar/227129 ^@ NM_001039141.2(TRIOBP):c.7032G>A (p.Glu2344=) http://identifiers.org/clinvar/227280 ^@ NM_001161529.1(CSF2RA):c.647-7G>A http://identifiers.org/clinvar/227480 ^@ NM_002290.4(LAMA4):c.392C>T (p.Pro131Leu) http://identifiers.org/clinvar/234259 ^@ NM_018136.4(ASPM):c.8043dupA (p.Arg2682Thrfs) http://identifiers.org/clinvar/233502 ^@ NM_000465.3(BARD1):c.889G>A (p.Val297Ile) http://identifiers.org/clinvar/234105 ^@ NM_000465.3(BARD1):c.400A>G (p.Asn134Asp) http://identifiers.org/clinvar/234155 ^@ NM_000251.2(MSH2):c.1076+4T>C http://identifiers.org/clinvar/233452 ^@ NM_000179.2(MSH6):c.675T>G (p.Ile225Met) http://identifiers.org/clinvar/234005 ^@ NM_000179.2(MSH6):c.1809G>A (p.Lys603=) http://identifiers.org/clinvar/233402 ^@ NM_000179.2(MSH6):c.2176T>C (p.Phe726Leu) http://identifiers.org/clinvar/233102 ^@ NM_000038.5(APC):c.1366C>T (p.Leu456Phe) http://identifiers.org/clinvar/264554 ^@ NM_002474.2(MYH11):c.3235G>T (p.Ala1079Ser) http://identifiers.org/clinvar/264304 ^@ NM_004006.2(DMD):c.5390T>C (p.Leu1797Pro) http://identifiers.org/clinvar/264719 ^@ NM_001242896.1(DEPDC5):c.492_496delTCGTT (p.Arg165TyrfsTer14) http://identifiers.org/clinvar/264874 ^@ NM_000059.3(BRCA2):c.425+457C>T http://identifiers.org/clinvar/264774 ^@ NM_007294.3(BRCA1):c.4186-591_4186-588dup http://identifiers.org/clinvar/264824 ^@ NM_007294.3(BRCA1):c.134+2993T>A http://identifiers.org/clinvar/265624 ^@ NM_020732.3(ARID1B):c.3263C>G (p.Ser1088Ter) http://identifiers.org/clinvar/265574 ^@ NM_017780.3(CHD7):c.7840delG (p.Asp2614Metfs) http://identifiers.org/clinvar/265473 ^@ NM_207122.1(EXT2):c.580G>T (p.Gly194Ter) http://identifiers.org/clinvar/265523 ^@ NM_015335.4(MED13L):c.2590A>T (p.Met864Leu) http://identifiers.org/clinvar/265674 ^@ NM_007194.3(CHEK2):c.909-1G>T http://identifiers.org/clinvar/265756 ^@ NM_024818.4(UBA5):c.736C>T (p.Arg246Ter) http://identifiers.org/clinvar/265863 ^@ NM_000812.3(GABRB1):c.737T>C (p.Phe246Ser) http://identifiers.org/clinvar/265913 ^@ NM_174936.3(PCSK9):c.-73A>G http://identifiers.org/clinvar/265967 ^@ NM_003611.2(OFD1):c.147dupG (p.His50A1afs*26) http://identifiers.org/clinvar/266019 ^@ NM_014980.2(STXBP5L):c.3127G>A (p.Val1043Ile) http://identifiers.org/clinvar/266095 ^@ NM_001077418.2(TMEM231):c.665-11T>C http://identifiers.org/clinvar/266645 ^@ NM_000059.3(BRCA2):c.1587_1590delTAAA (p.Phe529Leufs) http://identifiers.org/clinvar/266695 ^@ NM_000059.3(BRCA2):c.2397delA (p.Gly800Valfs) http://identifiers.org/clinvar/266745 ^@ NM_000059.3(BRCA2):c.3303_3336dup34 (p.Glu1113Terfs) http://identifiers.org/clinvar/266795 ^@ NM_000059.3(BRCA2):c.4211C>G (p.Ser1404Ter) http://identifiers.org/clinvar/266845 ^@ NM_000059.3(BRCA2):c.5050_5065del16 (p.Thr1684Glnfs) http://identifiers.org/clinvar/266895 ^@ NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter) http://identifiers.org/clinvar/266545 ^@ NM_007294.3(BRCA1):c.5302delT (p.Cys1768Alafs) http://identifiers.org/clinvar/266495 ^@ NM_007294.3(BRCA1):c.4784delC (p.Ser1595Phefs) http://identifiers.org/clinvar/266345 ^@ NM_007294.3(BRCA1):c.3217_3218delGG (p.Gly1073Terfs) http://identifiers.org/clinvar/266295 ^@ NM_007294.3(BRCA1):c.2704delG (p.Glu902Asnfs) http://identifiers.org/clinvar/266245 ^@ NM_007294.3(BRCA1):c.2307_2313delTTCATTG (p.Ile769Metfs) http://identifiers.org/clinvar/266195 ^@ NM_007294.3(BRCA1):c.1878_1879insTAGT (p.Val627Terfs) http://identifiers.org/clinvar/266145 ^@ NM_007294.3(BRCA1):c.1210_1211insCT (p.Glu404Alafs) http://identifiers.org/clinvar/266595 ^@ NM_007294.3(BRCA1):c.953delA (p.His318Leufs) http://identifiers.org/clinvar/266445 ^@ NM_007294.3(BRCA1):c.411_414delTCTA (p.Leu138Argfs) http://identifiers.org/clinvar/266395 ^@ NM_007294.3(BRCA1):c.363_364delAG (p.Glu121Aspfs) http://identifiers.org/clinvar/290924 ^@ NM_000152.4(GAA):c.2253C>T (p.Leu751=) http://identifiers.org/clinvar/290974 ^@ NM_000214.2(JAG1):c.1218_1219insGA (p.Lys407Glufs) http://identifiers.org/clinvar/291024 ^@ NM_022437.2(ABCG8):c.1495G>A (p.Gly499Arg) http://identifiers.org/clinvar/291074 ^@ NM_015386.2(COG4):c.2288G>A (p.Arg763His) http://identifiers.org/clinvar/291124 ^@ NM_004369.3(COL6A3):c.2932G>A (p.Ala978Thr) http://identifiers.org/clinvar/291175 ^@ NM_004006.2(DMD):c.4345-8C>T http://identifiers.org/clinvar/291225 ^@ NM_033071.3(SYNE1):c.24089G>A (p.Arg8030His) http://identifiers.org/clinvar/291275 ^@ NM_001193315.1(VIPAS39):c.1221C>T (p.Phe407=) http://identifiers.org/clinvar/291440 ^@ NM_001918.3(DBT):c.*1064delA http://identifiers.org/clinvar/291390 ^@ NM_001918.3(DBT):c.*7187G>A http://identifiers.org/clinvar/291490 ^@ NM_001854.3(COL11A1):c.*105C>T http://identifiers.org/clinvar/291540 ^@ NM_001854.3(COL11A1):c.904A>G (p.Ile302Val) http://identifiers.org/clinvar/291632 ^@ NM_015074.3(KIF1B):c.*2840G>A http://identifiers.org/clinvar/291682 ^@ NM_004565.2(PEX14):c.993T>G (p.Asp331Glu) http://identifiers.org/clinvar/291590 ^@ NM_015074.3(KIF1B):c.*277_*280delCACA http://identifiers.org/clinvar/291732 ^@ NM_007375.3(TARDBP):c.-42C>T http://identifiers.org/clinvar/291882 ^@ NM_013319.2(UBIAD1):c.*675A>G http://identifiers.org/clinvar/291782 ^@ NM_006610.3(MASP2):c.1316G>A (p.Arg439His) http://identifiers.org/clinvar/292182 ^@ NM_005957.4(MTHFR):c.*2965C>A http://identifiers.org/clinvar/291982 ^@ NM_002524.4(NRAS):c.-242G>C http://identifiers.org/clinvar/291932 ^@ NM_000036.2(AMPD1):c.599G>A (p.Arg200Gln) http://identifiers.org/clinvar/291832 ^@ NM_003051.3(SLC16A1):c.*1312G>C http://identifiers.org/clinvar/292232 ^@ NM_005957.4(MTHFR):c.1761C>T (p.Ala587=) http://identifiers.org/clinvar/292582 ^@ NM_000396.3(CTSK):c.684C>T (p.Pro228=) http://identifiers.org/clinvar/292282 ^@ NM_000302.3(PLOD1):c.475G>A (p.Gly159Ser) http://identifiers.org/clinvar/292332 ^@ NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys) http://identifiers.org/clinvar/292032 ^@ NM_138959.2(VANGL1):c.*1042C>A http://identifiers.org/clinvar/292682 ^@ NM_152263.3(TPM3):c.*1032T>G http://identifiers.org/clinvar/292132 ^@ NM_001232.3(CASQ2):c.475G>A (p.Glu159Lys) http://identifiers.org/clinvar/292082 ^@ NM_138959.2(VANGL1):c.*5066C>G http://identifiers.org/clinvar/292832 ^@ NM_005572.3(LMNA):c.-62C>A http://identifiers.org/clinvar/292632 ^@ NM_152263.3(TPM3):c.*5572dupT http://identifiers.org/clinvar/292782 ^@ NM_001111.4(ADAR):c.772G>A (p.Gly258Arg) http://identifiers.org/clinvar/292382 ^@ NM_014874.3(MFN2):c.*121A>G http://identifiers.org/clinvar/292432 ^@ NM_213653.3(HFE2):c.1113C>T (p.Pro371=) http://identifiers.org/clinvar/292532 ^@ NM_019032.5(ADAMTSL4):c.1268G>A (p.Arg423Gln) http://identifiers.org/clinvar/292482 ^@ NM_005850.4(SF3B4):c.148A>G (p.Thr50Ala) http://identifiers.org/clinvar/293621 ^@ NM_000130.4(F5):c.2222A>G (p.Asn741Ser) http://identifiers.org/clinvar/292732 ^@ NM_001111.4(ADAR):c.*898G>A http://identifiers.org/clinvar/292882 ^@ NM_001012331.1(NTRK1):c.658C>T (p.Arg220Trp) http://identifiers.org/clinvar/293771 ^@ NM_022089.3(ATP13A2):c.3193G>A (p.Val1065Met) http://identifiers.org/clinvar/293671 ^@ NM_152281.2(GORAB):c.*803T>C http://identifiers.org/clinvar/293721 ^@ NM_000261.1(MYOC):c.239C>A (p.Thr80Asn) http://identifiers.org/clinvar/294071 ^@ NM_000433.3(NCF2):c.*262C>T http://identifiers.org/clinvar/294171 ^@ NM_031935.2(HMCN1):c.6075T>C (p.Val2025=) http://identifiers.org/clinvar/294221 ^@ NM_031935.2(HMCN1):c.10536T>C (p.Ala3512=) http://identifiers.org/clinvar/294721 ^@ NM_000069.2(CACNA1S):c.4243G>A (p.Gly1415Arg) http://identifiers.org/clinvar/293821 ^@ NM_003000.2(SDHB):c.-142A>G http://identifiers.org/clinvar/294771 ^@ NM_000069.2(CACNA1S):c.909T>C (p.Asp303=) http://identifiers.org/clinvar/294821 ^@ NM_001005337.2(PKP1):c.1325C>T (p.Ala442Val) http://identifiers.org/clinvar/293871 ^@ NM_033343.3(LHX4):c.998C>T (p.Thr333Met) http://identifiers.org/clinvar/294971 ^@ NM_002389.4(CD46):c.905C>T (p.Ser302Leu) http://identifiers.org/clinvar/293921 ^@ NM_002065.6(GLUL):c.*1033G>C http://identifiers.org/clinvar/343313 ^@ NM_014382.3(ATP2C1):c.-213C>A http://identifiers.org/clinvar/343363 ^@ NM_153240.4(NPHP3):c.*657C>T http://identifiers.org/clinvar/343413 ^@ NM_003571.3(BFSP2):c.*73C>T http://identifiers.org/clinvar/343463 ^@ NM_000532.4(PCCB):c.429+7G>A http://identifiers.org/clinvar/343563 ^@ NM_004628.4(XPC):c.2515A>G (p.Lys839Glu) http://identifiers.org/clinvar/343663 ^@ NM_031850.3(AGTR1):c.-329G>T http://identifiers.org/clinvar/344852 ^@ NM_006371.4(CRTAP):c.*2431G>A http://identifiers.org/clinvar/344952 ^@ NM_001106.3(ACVR2B):c.*1957T>G http://identifiers.org/clinvar/336444 ^@ NM_000179.2(MSH6):c.2722G>A (p.Glu908Lys) http://identifiers.org/clinvar/344113 ^@ NM_005025.4(SERPINI1):c.-391_-387dupGGAGC http://identifiers.org/clinvar/336544 ^@ NM_001135659.2(NRXN1):c.3652C>A (p.Leu1218Ile) http://identifiers.org/clinvar/345452 ^@ NM_024513.3(FYCO1):c.*2695_*2696insT http://identifiers.org/clinvar/345502 ^@ NM_024513.3(FYCO1):c.3413A>G (p.Glu1138Gly) http://identifiers.org/clinvar/344752 ^@ NM_015141.3(GPD1L):c.*1085G>T http://identifiers.org/clinvar/345602 ^@ NM_000316.2(PTH1R):c.*7G>A http://identifiers.org/clinvar/345902 ^@ NM_002222.5(ITPR1):c.*358_*359delTG http://identifiers.org/clinvar/345002 ^@ NM_001106.3(ACVR2B):c.*5569C>T http://identifiers.org/clinvar/345952 ^@ NM_000387.5(SLC25A20):c.-195A>C http://identifiers.org/clinvar/346052 ^@ NM_144499.2(GNAT1):c.876C>T (p.Tyr292=) http://identifiers.org/clinvar/345152 ^@ NM_017875.2(SLC25A38):c.*304C>T http://identifiers.org/clinvar/345202 ^@ NM_018075.4(ANO10):c.-90C>T http://identifiers.org/clinvar/345252 ^@ NM_016006.4(ABHD5):c.*1863G>A http://identifiers.org/clinvar/337683 ^@ NM_001298.2(CNGA3):c.*1240C>T http://identifiers.org/clinvar/342313 ^@ NM_016247.3(IMPG2):c.*740_*743delTATA http://identifiers.org/clinvar/346002 ^@ NM_002292.3(LAMB2):c.2154G>A (p.Leu718=) http://identifiers.org/clinvar/342813 ^@ NM_000388.3(CASR):c.*790T>C http://identifiers.org/clinvar/342863 ^@ NM_053025.3(MYLK):c.*76_*77insAC http://identifiers.org/clinvar/346102 ^@ NM_153281.1(HYAL1):c.-414G>A http://identifiers.org/clinvar/343013 ^@ NM_000373.3(UMPS):c.*3701C>T http://identifiers.org/clinvar/342913 ^@ NM_053025.3(MYLK):c.-153C>T http://identifiers.org/clinvar/343113 ^@ NM_032638.4(GATA2):c.*1144G>A http://identifiers.org/clinvar/343063 ^@ NM_025265.3(TSEN2):c.-173C>T http://identifiers.org/clinvar/343613 ^@ NM_001184.3(ATR):c.2653G>A (p.Val885Ile) http://identifiers.org/clinvar/343713 ^@ NM_032383.4(HPS3):c.2692C>T (p.Arg898Cys) http://identifiers.org/clinvar/343913 ^@ NM_000060.4(BTD):c.1485C>A (p.Ile495=) http://identifiers.org/clinvar/343963 ^@ NM_020800.2(IFT80):c.2014A>G (p.Ile672Val) http://identifiers.org/clinvar/353579 ^@ NM_002310.5(LIFR):c.*1854C>T http://identifiers.org/clinvar/353929 ^@ NM_001104631.1(PDE4D):c.*3754_*3755dupTT http://identifiers.org/clinvar/361917 ^@ NM_003235.4(TG):c.1802C>T (p.Thr601Met) http://identifiers.org/clinvar/353679 ^@ NM_000163.4(GHR):c.206C>T (p.Thr69Ile) http://identifiers.org/clinvar/353729 ^@ NM_002203.3(ITGA2):c.-99G>C http://identifiers.org/clinvar/354179 ^@ NM_003719.3(PDE8B):c.*64G>A http://identifiers.org/clinvar/354079 ^@ NM_001038603.2(MARVELD2):c.57C>T (p.Ser19=) http://identifiers.org/clinvar/362467 ^@ NM_005144.4(HR):c.*218T>C http://identifiers.org/clinvar/362617 ^@ NM_006158.4(NEFL):c.*1643G>A http://identifiers.org/clinvar/362667 ^@ NM_000742.3(CHRNA2):c.*1446A>G http://identifiers.org/clinvar/355169 ^@ NM_000165.4(GJA1):c.*214G>A http://identifiers.org/clinvar/363806 ^@ NM_000318.2(PEX2):c.*595C>T http://identifiers.org/clinvar/355619 ^@ NM_003764.3(STX11):c.*1254delG http://identifiers.org/clinvar/360118 ^@ NM_133468.4(BMPER):c.1935G>C (p.Thr645=) http://identifiers.org/clinvar/355569 ^@ NM_003630.2(PEX3):c.-197T>C http://identifiers.org/clinvar/364356 ^@ NM_005502.3(ABCA1):c.*1260C>G http://identifiers.org/clinvar/355869 ^@ NM_033071.3(SYNE1):c.14457G>C (p.Gln4819His) http://identifiers.org/clinvar/355919 ^@ NM_033071.3(SYNE1):c.6156T>G (p.Ile2052Met) http://identifiers.org/clinvar/355719 ^@ NM_203395.2(IYD):c.*1697G>A http://identifiers.org/clinvar/364706 ^@ NM_015404.3(WHRN):c.-499G>A http://identifiers.org/clinvar/356169 ^@ NM_001080.3(ALDH5A1):c.*1392C>A http://identifiers.org/clinvar/356269 ^@ NM_001710.5(CFB):c.291G>A (p.Glu97=) http://identifiers.org/clinvar/356119 ^@ NM_000367.4(TPMT):c.210C>T (p.Cys70=) http://identifiers.org/clinvar/356219 ^@ NM_001109809.2(ZFP57):c.475A>T (p.Thr159Ser) http://identifiers.org/clinvar/360957 ^@ NM_000089.3(COL1A2):c.1870C>G (p.Pro624Ala) http://identifiers.org/clinvar/356319 ^@ NM_006929.4(SKIV2L):c.774A>G (p.Glu258=) http://identifiers.org/clinvar/356469 ^@ NM_003322.5(TULP1):c.559C>T (p.Pro187Ser) http://identifiers.org/clinvar/356619 ^@ NM_005943.5(MOCS1):c.*1688_*1691dupAATC http://identifiers.org/clinvar/356819 ^@ NM_014780.4(CUL7):c.4690C>T (p.Arg1564Trp) http://identifiers.org/clinvar/356669 ^@ NM_005943.5(MOCS1):c.264G>A (p.Met88Ile) http://identifiers.org/clinvar/361407 ^@ NM_178857.5(RP1L1):c.488G>A (p.Arg163His) http://identifiers.org/clinvar/361458 ^@ NM_001715.2(BLK):c.-484G>A http://identifiers.org/clinvar/361508 ^@ NM_014112.4(TRPS1):c.*5386A>G http://identifiers.org/clinvar/361667 ^@ NM_000127.2(EXT1):c.-266C>T http://identifiers.org/clinvar/361717 ^@ NM_014846.3(WASHC5):c.2100G>A (p.Val700=) http://identifiers.org/clinvar/361767 ^@ NM_004519.3(KCNQ3):c.*6874C>G http://identifiers.org/clinvar/367096 ^@ NM_203447.3(DOCK8):c.*112T>C http://identifiers.org/clinvar/366646 ^@ NM_001497.3(B4GALT1):c.*286T>G http://identifiers.org/clinvar/303248 ^@ NM_022370.3(ROBO3):c.2048C>T (p.Pro683Leu) http://identifiers.org/clinvar/366896 ^@ NM_001042413.1(GLIS3):c.*3330G>A http://identifiers.org/clinvar/367525 ^@ NM_004560.3(ROR2):c.-154G>C http://identifiers.org/clinvar/366946 ^@ NM_001042413.1(GLIS3):c.*664dupA http://identifiers.org/clinvar/366996 ^@ NM_203447.3(DOCK8):c.4024-4C>T http://identifiers.org/clinvar/311846 ^@ NM_001127217.2(SMAD9):c.*2202delT http://identifiers.org/clinvar/311896 ^@ NM_001127217.2(SMAD9):c.1042G>A (p.Glu348Lys) http://identifiers.org/clinvar/364056 ^@ NM_014290.2(TDRD7):c.-83G>C http://identifiers.org/clinvar/311946 ^@ NM_207361.5(FREM2):c.1395G>A (p.Pro465=) http://identifiers.org/clinvar/364156 ^@ NM_004612.3(TGFBR1):c.*2833G>A http://identifiers.org/clinvar/367325 ^@ NM_017662.4(TRPM6):c.1207+6T>C http://identifiers.org/clinvar/367375 ^@ NM_033305.2(VPS13A):c.3340-5_3340-3delTTA http://identifiers.org/clinvar/312296 ^@ NM_000321.2(RB1):c.2521-11G>A http://identifiers.org/clinvar/312746 ^@ NM_000270.3(PNP):c.*799A>G http://identifiers.org/clinvar/364206 ^@ NM_033087.3(ALG2):c.934C>T (p.Leu312Phe) http://identifiers.org/clinvar/304687 ^@ NM_021926.3(ALX4):c.*524C>T http://identifiers.org/clinvar/313385 ^@ NM_000161.2(GCH1):c.*278C>T http://identifiers.org/clinvar/313435 ^@ NM_007374.2(SIX6):c.726C>T (p.Ser242=) http://identifiers.org/clinvar/304887 ^@ NM_002334.3(LRP4):c.1480C>T (p.Arg494Cys) http://identifiers.org/clinvar/299459 ^@ NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) http://identifiers.org/clinvar/305139 ^@ NM_002032.2(FTH1):c.*222C>T http://identifiers.org/clinvar/313885 ^@ NM_015346.3(ZFYVE26):c.5798G>C (p.Ser1933Thr) http://identifiers.org/clinvar/305189 ^@ NM_032667.6(BSCL2):c.-182C>A http://identifiers.org/clinvar/314035 ^@ NM_031427.3(DNAL1):c.*1214G>A http://identifiers.org/clinvar/305239 ^@ NM_144585.3(SLC22A12):c.1145A>T (p.Gln382Leu) http://identifiers.org/clinvar/314085 ^@ NM_031427.3(DNAL1):c.*4208G>A http://identifiers.org/clinvar/299709 ^@ NM_014915.2(ANKRD26):c.*1433A>G http://identifiers.org/clinvar/299859 ^@ NM_021252.4(RAB18):c.*2744C>T http://identifiers.org/clinvar/299409 ^@ NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) http://identifiers.org/clinvar/305589 ^@ NM_006946.2(SPTBN2):c.1281C>T (p.Ala427=) http://identifiers.org/clinvar/314585 ^@ NM_004863.3(SPTLC2):c.*4645A>G http://identifiers.org/clinvar/300109 ^@ NM_000242.2(MBL2):c.*2388T>G http://identifiers.org/clinvar/314735 ^@ NM_000153.3(GALC):c.*801A>T http://identifiers.org/clinvar/299609 ^@ NM_201590.2(CACNB2):c.*1229T>G http://identifiers.org/clinvar/305739 ^@ NM_007103.3(NDUFV1):c.-34T>A http://identifiers.org/clinvar/300259 ^@ NM_000417.2(IL2RA):c.367+7G>C http://identifiers.org/clinvar/300309 ^@ NM_018055.4(NODAL):c.221C>T (p.Thr74Met) http://identifiers.org/clinvar/300359 ^@ NM_018344.5(SLC29A3):c.385G>A (p.Val129Ile) http://identifiers.org/clinvar/299809 ^@ NM_021252.4(RAB18):c.-144T>A http://identifiers.org/clinvar/306252 ^@ NM_024698.5(SLC25A22):c.*453C>T http://identifiers.org/clinvar/300559 ^@ NM_004273.4(CHST3):c.348G>T (p.Glu116Asp) http://identifiers.org/clinvar/306302 ^@ NM_020376.3(PNPLA2):c.903C>T (p.Pro301=) http://identifiers.org/clinvar/299959 ^@ NM_002900.2(RBP3):c.2626G>T (p.Ala876Ser) http://identifiers.org/clinvar/300009 ^@ NM_000124.3(ERCC6):c.*1830T>C http://identifiers.org/clinvar/300709 ^@ NM_016065.3(MRPS16):c.*502G>A http://identifiers.org/clinvar/300159 ^@ NM_033056.3(PCDH15):c.*366G>A http://identifiers.org/clinvar/306553 ^@ NM_030962.3(SBF2):c.*1441C>T http://identifiers.org/clinvar/329147 ^@ NM_033064.4(ATCAY):c.568G>A (p.Ala190Thr) http://identifiers.org/clinvar/329397 ^@ NM_152296.4(ATP1A3):c.*280T>A http://identifiers.org/clinvar/329447 ^@ NM_014297.4(ETHE1):c.-52G>C http://identifiers.org/clinvar/329497 ^@ NM_000400.3(ERCC2):c.*171G>C http://identifiers.org/clinvar/329647 ^@ NM_025136.3(OPA3):c.*1950G>A http://identifiers.org/clinvar/318116 ^@ NM_001040114.1(MYH11):c.4138-80G>C http://identifiers.org/clinvar/318166 ^@ NM_002474.2(MYH11):c.2058+10G>A http://identifiers.org/clinvar/329797 ^@ NM_002103.4(GYS1):c.*659C>T http://identifiers.org/clinvar/329847 ^@ NM_017636.3(TRPM4):c.483C>T (p.Gly161=) http://identifiers.org/clinvar/318266 ^@ NM_004970.2(IGFALS):c.108C>T (p.Ala36=) http://identifiers.org/clinvar/329947 ^@ NM_024729.3(MYH14):c.5004+12C>T http://identifiers.org/clinvar/311746 ^@ NM_015087.4(SPG20):c.*1799G>A http://identifiers.org/clinvar/330247 ^@ NM_006087.3(TUBB4A):c.*804C>G http://identifiers.org/clinvar/318766 ^@ NM_173201.3(ATP2A1):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/318816 ^@ NM_001770.5(CD19):c.*71C>T http://identifiers.org/clinvar/312046 ^@ NM_207361.5(FREM2):c.*992T>C http://identifiers.org/clinvar/330497 ^@ NM_020533.2(MCOLN1):c.984+13C>T http://identifiers.org/clinvar/312196 ^@ NM_014252.3(SLC25A15):c.*898C>T http://identifiers.org/clinvar/319216 ^@ NM_032575.2(GLIS2):c.1011G>A (p.Pro337=) http://identifiers.org/clinvar/312446 ^@ NM_000115.4(EDNRB):c.*2219A>G http://identifiers.org/clinvar/338033 ^@ NM_032609.2(COX4I2):c.167A>C (p.Glu56Ala) http://identifiers.org/clinvar/319416 ^@ NM_024589.2(ROGDI):c.-342C>A http://identifiers.org/clinvar/319466 ^@ NM_022162.2(NOD2):c.2463-9T>A http://identifiers.org/clinvar/312546 ^@ NM_005708.4(GPC6):c.1216A>G (p.Ile406Val) http://identifiers.org/clinvar/319817 ^@ NM_001043.3(SLC6A2):c.*306C>T http://identifiers.org/clinvar/319867 ^@ NM_031885.3(BBS2):c.327G>A (p.Ser109=) http://identifiers.org/clinvar/338633 ^@ NM_030777.3(SLC2A10):c.*2254delT http://identifiers.org/clinvar/338834 ^@ NM_000782.4(CYP24A1):c.259-5T>C http://identifiers.org/clinvar/313335 ^@ NM_001202.5(BMP4):c.*272A>G http://identifiers.org/clinvar/339284 ^@ NM_001853.3(COL9A3):c.1135G>A (p.Gly379Ser) http://identifiers.org/clinvar/311996 ^@ NM_207361.5(FREM2):c.5642-12T>C http://identifiers.org/clinvar/321106 ^@ NM_020686.5(ABAT):c.*574A>G http://identifiers.org/clinvar/312096 ^@ NM_207361.5(FREM2):c.*5155G>A http://identifiers.org/clinvar/320956 ^@ NM_001127464.2(ZNF469):c.6396C>T (p.Pro2132=) http://identifiers.org/clinvar/312146 ^@ NM_020751.2(COG6):c.1676A>T (p.Gln559Leu) http://identifiers.org/clinvar/321456 ^@ NM_002386.3(MC1R):c.*620G>T http://identifiers.org/clinvar/312346 ^@ NM_000053.3(ATP7B):c.*1708A>G http://identifiers.org/clinvar/326408 ^@ NM_177986.4(DSG4):c.-101T>A http://identifiers.org/clinvar/326808 ^@ NM_015559.2(SETBP1):c.*3833C>G http://identifiers.org/clinvar/326958 ^@ NM_001080467.2(MYO5B):c.*1967C>T http://identifiers.org/clinvar/327008 ^@ NM_001080467.2(MYO5B):c.4674C>G (p.His1558Gln) http://identifiers.org/clinvar/368414 ^@ NM_007137.3(ZNF81):c.*1050A>G http://identifiers.org/clinvar/327408 ^@ NM_000140.3(FECH):c.*936C>T http://identifiers.org/clinvar/329197 ^@ NM_033064.4(ATCAY):c.*2668G>A http://identifiers.org/clinvar/327558 ^@ NM_005570.3(LMAN1):c.*1332C>G http://identifiers.org/clinvar/329347 ^@ NM_030578.3(B9D2):c.-4-13T>C http://identifiers.org/clinvar/329997 ^@ NM_144687.3(NLRP12):c.*69C>A http://identifiers.org/clinvar/330047 ^@ NM_144687.3(NLRP12):c.136G>C (p.Gly46Arg) http://identifiers.org/clinvar/330147 ^@ NM_024075.4(TSEN34):c.*1046T>C http://identifiers.org/clinvar/337983 ^@ NM_001042472.2(ABHD12):c.*353G>A http://identifiers.org/clinvar/338233 ^@ NM_032034.3(SLC4A11):c.2499G>A (p.Thr833=) http://identifiers.org/clinvar/329247 ^@ NM_181882.2(PRX):c.4118G>A (p.Arg1373Gln) http://identifiers.org/clinvar/338183 ^@ NM_006892.3(DNMT3B):c.1996+9C>T http://identifiers.org/clinvar/329297 ^@ NM_181882.2(PRX):c.-236G>A http://identifiers.org/clinvar/338383 ^@ NM_005461.4(MAFB):c.*1520C>G http://identifiers.org/clinvar/329897 ^@ NM_007254.3(PNKP):c.-74G>A http://identifiers.org/clinvar/339134 ^@ NM_207034.2(EDN3):c.*143C>A http://identifiers.org/clinvar/330097 ^@ NM_015629.3(PRPF31):c.420+7G>A http://identifiers.org/clinvar/339384 ^@ NM_025219.2(DNAJC5):c.*1220G>A http://identifiers.org/clinvar/330197 ^@ NM_003283.5(TNNT1):c.-12+15G>A http://identifiers.org/clinvar/330347 ^@ NM_000208.3(INSR):c.*4602C>T http://identifiers.org/clinvar/330397 ^@ NM_000208.3(INSR):c.*2010G>A http://identifiers.org/clinvar/340173 ^@ NM_000211.4(ITGB2):c.432G>A (p.Arg144=) http://identifiers.org/clinvar/340423 ^@ NM_006657.2(FTCD):c.1202C>T (p.Ala401Val) http://identifiers.org/clinvar/338433 ^@ NM_000457.4(HNF4A):c.*155G>A http://identifiers.org/clinvar/338483 ^@ NM_000457.4(HNF4A):c.*2698_*2704delTTTTTTG http://identifiers.org/clinvar/340624 ^@ NM_014339.6(IL17RA):c.*434C>T http://identifiers.org/clinvar/338533 ^@ NM_000308.3(CTSA):c.847C>T (p.Arg283Cys) http://identifiers.org/clinvar/338784 ^@ NM_020436.4(SALL4):c.328G>A (p.Val110Met) http://identifiers.org/clinvar/340924 ^@ NM_016327.2(UPB1):c.-63C>T http://identifiers.org/clinvar/341074 ^@ NM_000268.3(NF2):c.1529A>G (p.Lys510Arg) http://identifiers.org/clinvar/339184 ^@ NM_017671.4(FERMT1):c.*1365C>A http://identifiers.org/clinvar/341174 ^@ NM_000268.3(NF2):c.*3613_*3618delCAAGCC http://identifiers.org/clinvar/339234 ^@ NM_017671.4(FERMT1):c.211C>T (p.Leu71=) http://identifiers.org/clinvar/339334 ^@ NM_172107.3(KCNQ2):c.816+9T>C http://identifiers.org/clinvar/390214 ^@ NM_017617.4(NOTCH1):c.5421C>T (p.Asp1807=) http://identifiers.org/clinvar/386265 ^@ NM_001003800.1(BICD2):c.2445G>A (p.Pro815=) http://identifiers.org/clinvar/390864 ^@ NM_000238.3(KCNH2):c.276C>T (p.Arg92=) http://identifiers.org/clinvar/385076 ^@ NM_020822.2(KCNT1):c.2187C>T (p.Ser729=) http://identifiers.org/clinvar/391064 ^@ NM_007327.3(GRIN1):c.387G>C (p.Ser129=) http://identifiers.org/clinvar/390414 ^@ NM_213649.1(SFXN4):c.576T>C (p.Thr192=) http://identifiers.org/clinvar/392053 ^@ NM_004281.3(BAG3):c.943T>A (p.Ser315Thr) http://identifiers.org/clinvar/383023 ^@ NM_000051.3(ATM):c.8262T>G (p.Thr2754=) http://identifiers.org/clinvar/378384 ^@ NM_000535.6(PMS2):c.804-20A>T http://identifiers.org/clinvar/386465 ^@ NM_006415.3(SPTLC1):c.1081+10T>C http://identifiers.org/clinvar/381781 ^@ NM_000722.3(CACNA2D1):c.1279T>C (p.Leu427=) http://identifiers.org/clinvar/384025 ^@ NM_014000.2(VCL):c.3154-8C>G http://identifiers.org/clinvar/392103 ^@ NM_003235.4(TG):c.3367G>A (p.Gly1123Ser) http://identifiers.org/clinvar/381581 ^@ NM_000920.3(PC):c.796T>G (p.Ser266Ala) http://identifiers.org/clinvar/378180 ^@ NM_018109.3(MTPAP):c.1637G>A (p.Ser546Asn) http://identifiers.org/clinvar/378230 ^@ NM_002485.4(NBN):c.-36G>A http://identifiers.org/clinvar/383374 ^@ NM_006231.3(POLE):c.3061-10C>G http://identifiers.org/clinvar/392003 ^@ NM_000218.2(KCNQ1):c.624C>T (p.Ala208=) http://identifiers.org/clinvar/384726 ^@ NM_144670.5(A2ML1):c.3843T>C (p.Val1281=) http://identifiers.org/clinvar/389864 ^@ NM_006231.3(POLE):c.1687-4C>G http://identifiers.org/clinvar/385126 ^@ NM_000834.3(GRIN2B):c.2046C>G (p.Arg682=) http://identifiers.org/clinvar/379138 ^@ NM_000545.6(HNF1A):c.788G>A (p.Arg263His) http://identifiers.org/clinvar/384776 ^@ NM_001376.4(DYNC1H1):c.1509A>G (p.Gln503=) http://identifiers.org/clinvar/380429 ^@ NM_006231.3(POLE):c.5334C>T (p.Ala1778=) http://identifiers.org/clinvar/383123 ^@ NM_032634.3(PIGO):c.2298G>A (p.Leu766=) http://identifiers.org/clinvar/381481 ^@ NM_000719.6(CACNA1C):c.5444+719G>A http://identifiers.org/clinvar/378080 ^@ NM_007078.2(LDB3):c.690-4782G>A http://identifiers.org/clinvar/386515 ^@ NM_000282.3(PCCA):c.1257G>A (p.Gln419=) http://identifiers.org/clinvar/392303 ^@ NM_015932.5(POMP):c.226C>T (p.Pro76Ser) http://identifiers.org/clinvar/385226 ^@ NM_014844.4(TECPR2):c.4089G>A (p.Ala1363=) http://identifiers.org/clinvar/384175 ^@ NM_001271.3(CHD2):c.4138-6T>C http://identifiers.org/clinvar/392903 ^@ NM_004667.5(HERC2):c.13612G>A (p.Val4538Met) http://identifiers.org/clinvar/380679 ^@ NM_000256.3(MYBPC3):c.*26+13C>T http://identifiers.org/clinvar/378988 ^@ NM_000257.3(MYH7):c.5484C>T (p.Ala1828=) http://identifiers.org/clinvar/378788 ^@ NM_000548.4(TSC2):c.3815-16C>T http://identifiers.org/clinvar/385176 ^@ NM_004517.3(ILK):c.729-7C>A http://identifiers.org/clinvar/392803 ^@ NM_173201.3(ATP2A1):c.422A>G (p.Lys141Arg) http://identifiers.org/clinvar/386415 ^@ NM_004360.4(CDH1):c.49-8C>A http://identifiers.org/clinvar/381181 ^@ NM_001013703.3(EIF2AK4):c.3408-14G>C http://identifiers.org/clinvar/390064 ^@ NM_004360.4(CDH1):c.2296-11T>A http://identifiers.org/clinvar/392503 ^@ NM_015386.2(COG4):c.2225A>G (p.Asn742Ser) http://identifiers.org/clinvar/392603 ^@ NM_000138.4(FBN1):c.2232G>C (p.Gly744=) http://identifiers.org/clinvar/390364 ^@ NM_001127464.2(ZNF469):c.519C>G (p.Pro173=) http://identifiers.org/clinvar/383173 ^@ NM_000548.4(TSC2):c.4155C>G (p.Ser1385=) http://identifiers.org/clinvar/385026 ^@ NM_018127.6(ELAC2):c.2403C>T (p.Gly801=) http://identifiers.org/clinvar/47980 ^@ NM_153676.3(USH1C):c.1531-11A>G http://identifiers.org/clinvar/48032 ^@ NM_170707.3(LMNA):c.1146C>T (p.Gly382=) http://identifiers.org/clinvar/48082 ^@ NM_170707.3(LMNA):c.789G>A (p.Leu263=) http://identifiers.org/clinvar/48132 ^@ NM_173477.4(USH1G):c.501C>G (p.Arg167=) http://identifiers.org/clinvar/48182 ^@ NM_194248.2(OTOF):c.1977G>A (p.Pro659=) http://identifiers.org/clinvar/38 ^@ NM_001201543.1(FAM161A):c.1567C>T (p.Arg523Ter) http://identifiers.org/clinvar/113 ^@ NM_022067.3(VIPAS39):c.658C>T (p.Arg220Ter) http://identifiers.org/clinvar/635 ^@ NM_000277.1(PAH):c.1220C>T (p.Pro407Leu) http://identifiers.org/clinvar/644 ^@ NM_000130.4(F5):c.1001G>C (p.Arg334Thr) http://identifiers.org/clinvar/848 ^@ NM_173500.3(TTBK2):c.1284_1285delAG (p.Glu429Aspfs) http://identifiers.org/clinvar/876 ^@ NM_001145466.1(NCR3):c.-412G>C http://identifiers.org/clinvar/885 ^@ NM_000046.3(ARSB):c.629A>G (p.Tyr210Cys) http://identifiers.org/clinvar/1170 ^@ NM_000505.3(F12):c.983C>G (p.Thr328Arg) http://identifiers.org/clinvar/1215 ^@ NM_032581.3(FAM126A):c.414+1G>T http://identifiers.org/clinvar/1266 ^@ B3GALTL, IVS6, G-A, +1 http://identifiers.org/clinvar/1310 ^@ NM_001174089.1(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG http://identifiers.org/clinvar/1356 ^@ ALDH5A1, IVS5, G-A, +1 http://identifiers.org/clinvar/1401 ^@ NM_153609.3(TMPRSS6):c.1582+1G>A http://identifiers.org/clinvar/1447 ^@ NM_000190.3(HMBS):c.518G>A (p.Arg173Gln) http://identifiers.org/clinvar/1538 ^@ LPL, 1-BP DEL, 916G http://identifiers.org/clinvar/1583 ^@ NM_139281.2(WDR36):c.1586G>A (p.Arg529Gln) http://identifiers.org/clinvar/1632 ^@ NM_000018.3(ACADVL):c.1372T>C (p.Phe458Leu) http://identifiers.org/clinvar/1678 ^@ MANBA, IVS13AS, G-A, -1 http://identifiers.org/clinvar/1722 ^@ FIG4, 1-BP DEL, 294T http://identifiers.org/clinvar/242817 ^@ NM_015046.5(SETX):c.822G>H http://identifiers.org/clinvar/10530 ^@ NM_000292.2(PHKA2):c.3146C>A (p.Ser1049Ter) http://identifiers.org/clinvar/10576 ^@ NM_000133.3(F9):c.278A>G (p.Asp93Gly) http://identifiers.org/clinvar/10893 ^@ NM_000284.3(PDHA1):c.648A>C (p.Leu216Phe) http://identifiers.org/clinvar/10938 ^@ CYBB, EX4, L1 INS http://identifiers.org/clinvar/10984 ^@ NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del) http://identifiers.org/clinvar/11028 ^@ NM_198270.3(NHS):c.853-2A>G http://identifiers.org/clinvar/11073 ^@ NM_001128834.2(PLP1):c.646C>T (p.Pro216Ser) http://identifiers.org/clinvar/11118 ^@ WAS, 1-BP INS, 512C http://identifiers.org/clinvar/11164 ^@ NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) http://identifiers.org/clinvar/11209 ^@ NM_004006.2(DMD):c.2791G>T (p.Glu931Ter) http://identifiers.org/clinvar/11254 ^@ NM_004006.2(DMD):c.3121C>T (p.Gln1041Ter) http://identifiers.org/clinvar/11345 ^@ NM_000061.2(BTK):c.43C>T (p.Gln15Ter) http://identifiers.org/clinvar/11390 ^@ NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) http://identifiers.org/clinvar/11450 ^@ NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) http://identifiers.org/clinvar/11501 ^@ CDKL5, IVS6AS, G-T, -1 http://identifiers.org/clinvar/11552 ^@ NM_001159702.2(FHL1):c.457T>C (p.Cys153Arg) http://identifiers.org/clinvar/11602 ^@ NM_178152.2(DCX):c.608C>G (p.Thr203Arg) http://identifiers.org/clinvar/11652 ^@ NM_004586.2(RPS6KA3):c.679T>G (p.Ser227Ala) http://identifiers.org/clinvar/11703 ^@ NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val) http://identifiers.org/clinvar/11754 ^@ NM_001110556.1(FLNA):c.245A>T (p.Glu82Val) http://identifiers.org/clinvar/11805 ^@ NM_001127899.3(CLCN5):c.1049G>C (p.Arg350Pro) http://identifiers.org/clinvar/11855 ^@ MYO7A, 1-BP INS, EX28 http://identifiers.org/clinvar/11905 ^@ F11, DEL http://identifiers.org/clinvar/11955 ^@ NM_000191.2(HMGCL):c.208G>C (p.Val70Leu) http://identifiers.org/clinvar/12007 ^@ NM_000151.3(G6PC):c.551G>A (p.Gly184Glu) http://identifiers.org/clinvar/12057 ^@ F10, PRO343SER http://identifiers.org/clinvar/12107 ^@ C7, EXON 7-8 DEL http://identifiers.org/clinvar/12157 ^@ NM_000500.7(CYP21A2):c.1451_1452delGGinsC (p.Arg484Profs) http://identifiers.org/clinvar/12212 ^@ NM_000490.4(AVP):c.56C>T (p.Ala19Val) http://identifiers.org/clinvar/12263 ^@ NM_003361.3(UMOD):c.943T>C (p.Cys315Arg) http://identifiers.org/clinvar/12315 ^@ NM_001014796.1(DDR2):c.2138C>T (p.Thr713Ile) http://identifiers.org/clinvar/12366 ^@ NM_000546.5(TP53):c.818G>A (p.Arg273His) http://identifiers.org/clinvar/12417 ^@ NM_000364.3(TNNT2):c.829G>A (p.Asp277Asn) http://identifiers.org/clinvar/12468 ^@ NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) http://identifiers.org/clinvar/12518 ^@ NM_003242.5(TGFBR2):c.1280C>T (p.Pro427Leu) http://identifiers.org/clinvar/12568 ^@ NM_001128177.1(THRB):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/12619 ^@ TF, 10-BP DEL AND 9-BP DUP http://identifiers.org/clinvar/36658 ^@ NM_004387.3(NKX2-5):c.543G>A (p.Gln181=) http://identifiers.org/clinvar/36711 ^@ NM_000448.2(RAG1):c.189A>G (p.Pro63=) http://identifiers.org/clinvar/36764 ^@ NM_198056.2(SCN5A):c.5184C>T (p.Cys1728=) http://identifiers.org/clinvar/36814 ^@ NM_000545.6(HNF1A):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/36864 ^@ NM_003242.5(TGFBR2):c.1185G>C (p.Leu395=) http://identifiers.org/clinvar/37010 ^@ NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) http://identifiers.org/clinvar/37091 ^@ CCDC78, IVS1AS, G-A, -1 http://identifiers.org/clinvar/37207 ^@ NM_032806.5(POMGNT2):c.1333C>T (p.Arg445Ter) http://identifiers.org/clinvar/37305 ^@ NM_006343.2(MERTK):c.2323C>T (p.Arg775Ter) http://identifiers.org/clinvar/37389 ^@ NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser) http://identifiers.org/clinvar/37441 ^@ NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) http://identifiers.org/clinvar/38276 ^@ NM_003060.3(SLC22A5):c.629A>G (p.Asn210Ser) http://identifiers.org/clinvar/38334 ^@ NM_001146040.1(GLRA1):c.920A>C (p.Tyr307Ser) http://identifiers.org/clinvar/38392 ^@ NM_006796.2(AFG3L2):c.2012G>A (p.Gly671Glu) http://identifiers.org/clinvar/38453 ^@ NM_181882.2(PRX):c.2098delG (p.Ala700Profs) http://identifiers.org/clinvar/38613 ^@ NM_020630.4(RET):c.2410G>C (p.Val804Leu) http://identifiers.org/clinvar/38772 ^@ NM_000495.4(COL4A5):c.2947delT (p.Tyr983Ilefs) http://identifiers.org/clinvar/38885 ^@ NM_000532.4(PCCB):c.862G>A (p.Val288Ile) http://identifiers.org/clinvar/38946 ^@ NM_001363.4(DKC1):c.196A>G (p.Thr66Ala) http://identifiers.org/clinvar/38997 ^@ NM_004614.4(TK2):c.760C>T (p.Arg254Ter) http://identifiers.org/clinvar/39048 ^@ NM_024312.4(GNPTAB):c.2249dupA (p.Asn750Lysfs) http://identifiers.org/clinvar/39100 ^@ NM_198253.2(TERT):c.1378_1380delCAG (p.Gln460del) http://identifiers.org/clinvar/39155 ^@ NM_198578.3(LRRK2):c.2830G>T (p.Asp944Tyr) http://identifiers.org/clinvar/39205 ^@ NM_198578.3(LRRK2):c.5174G>A (p.Arg1725Gln) http://identifiers.org/clinvar/39256 ^@ NM_207352.3(CYP4V2):c.1348C>T (p.Gln450Ter) http://identifiers.org/clinvar/39469 ^@ NM_015338.5(ASXL1):c.2893C>T (p.Arg965Ter) http://identifiers.org/clinvar/39520 ^@ NM_022437.2(ABCG8):c.320C>G (p.Ser107Ter) http://identifiers.org/clinvar/39570 ^@ NM_153373.3(PHYKPL):c.1310A>T (p.Glu437Val) http://identifiers.org/clinvar/39622 ^@ NM_001396.3(DYRK1A):c.142_143delAT (p.Ile48Lysfs) http://identifiers.org/clinvar/39672 ^@ DDHD1, 1-BP DEL, 1874T http://identifiers.org/clinvar/39724 ^@ NM_000431.3(MVK):c.764T>C (p.Leu255Pro) http://identifiers.org/clinvar/39775 ^@ NM_001099922.2(ALG13):c.339A>G (p.Ala113=) http://identifiers.org/clinvar/39826 ^@ NM_006567.4(FARS2):c.1172A>T (p.Asp391Val) http://identifiers.org/clinvar/39969 ^@ NM_001142339.2(GNAL):c.463G>A (p.Glu155Lys) http://identifiers.org/clinvar/51425 ^@ NM_000059.3(BRCA2):c.3212A>G (p.His1071Arg) http://identifiers.org/clinvar/51477 ^@ NM_000059.3(BRCA2):c.34T>G (p.Phe12Val) http://identifiers.org/clinvar/51528 ^@ NM_000059.3(BRCA2):c.37_44delGAAATTTT (p.Glu13Terfs) http://identifiers.org/clinvar/51580 ^@ NM_000059.3(BRCA2):c.4001T>A (p.Leu1334Ter) http://identifiers.org/clinvar/51632 ^@ NM_000059.3(BRCA2):c.4319A>G (p.Lys1440Arg) http://identifiers.org/clinvar/51682 ^@ NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) http://identifiers.org/clinvar/51734 ^@ NM_000059.3(BRCA2):c.4894A>C (p.Ser1632Arg) http://identifiers.org/clinvar/51786 ^@ NM_000059.3(BRCA2):c.516+1G>A http://identifiers.org/clinvar/51837 ^@ NM_000059.3(BRCA2):c.5291C>G (p.Ser1764Ter) http://identifiers.org/clinvar/51890 ^@ NM_000059.3(BRCA2):c.5609_5610delTCinsAG (p.Phe1870Ter) http://identifiers.org/clinvar/51942 ^@ NM_000059.3(BRCA2):c.5804A>G (p.Asn1935Ser) http://identifiers.org/clinvar/51994 ^@ NM_000059.3(BRCA2):c.6033_6034insGT (p.Ser2012Valfs) http://identifiers.org/clinvar/52045 ^@ NM_000059.3(BRCA2):c.6280_6286delTATTCAC (p.Tyr2094Leufs) http://identifiers.org/clinvar/52098 ^@ NM_000059.3(BRCA2):c.6444_6447delTATT (p.Ile2149Lysfs) http://identifiers.org/clinvar/52150 ^@ NM_000059.3(BRCA2):c.6658_6661delGAAA (p.Glu2220Thrfs) http://identifiers.org/clinvar/52200 ^@ NM_000059.3(BRCA2):c.6823_6825delGAG (p.Glu2275del) http://identifiers.org/clinvar/52251 ^@ NM_000059.3(BRCA2):c.7025_7026delAA (p.Gln2342Argfs) http://identifiers.org/clinvar/52302 ^@ NM_000059.3(BRCA2):c.729_732delTGAT (p.Asn243Lysfs) http://identifiers.org/clinvar/52352 ^@ NM_000059.3(BRCA2):c.7544delC (p.Thr2515Asnfs) http://identifiers.org/clinvar/52403 ^@ NM_000059.3(BRCA2):c.775delA (p.Arg259Glufs) http://identifiers.org/clinvar/52453 ^@ NM_000059.3(BRCA2):c.7976+23C>T http://identifiers.org/clinvar/52503 ^@ NM_000059.3(BRCA2):c.8090G>A (p.Ser2697Asn) http://identifiers.org/clinvar/53149 ^@ NM_000218.2(KCNQ1):c.964A>G (p.Thr322Ala) http://identifiers.org/clinvar/53202 ^@ NM_000492.3(CFTR):c.1152delA (p.Glu384Aspfs) http://identifiers.org/clinvar/53254 ^@ NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser) http://identifiers.org/clinvar/53305 ^@ NM_000492.3(CFTR):c.164+1G>T http://identifiers.org/clinvar/53355 ^@ NM_000492.3(CFTR):c.170G>A (p.Trp57Ter) http://identifiers.org/clinvar/53405 ^@ NM_000492.3(CFTR):c.1856T>C (p.Leu619Ser) http://identifiers.org/clinvar/53457 ^@ NM_000492.3(CFTR):c.2233G>T (p.Gly745Ter) http://identifiers.org/clinvar/53510 ^@ NM_000492.3(CFTR):c.254G>T (p.Gly85Val) http://identifiers.org/clinvar/53560 ^@ NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) http://identifiers.org/clinvar/53610 ^@ NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) http://identifiers.org/clinvar/53662 ^@ NM_000492.3(CFTR):c.3140-4A>G http://identifiers.org/clinvar/53713 ^@ NM_000492.3(CFTR):c.3304A>T (p.Arg1102Ter) http://identifiers.org/clinvar/53764 ^@ NM_000492.3(CFTR):c.350G>C (p.Arg117Pro) http://identifiers.org/clinvar/53816 ^@ NM_000492.3(CFTR):c.3816_3817delGT (p.Ser1273Leufs) http://identifiers.org/clinvar/53868 ^@ NM_000492.3(CFTR):c.3985G>C (p.Glu1329Gln) http://identifiers.org/clinvar/53919 ^@ NM_000492.3(CFTR):c.4201G>T (p.Glu1401Ter) http://identifiers.org/clinvar/53969 ^@ NM_000492.3(CFTR):c.489+2T>C http://identifiers.org/clinvar/54019 ^@ NM_000492.3(CFTR):c.596A>G (p.His199Arg) http://identifiers.org/clinvar/54071 ^@ NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) http://identifiers.org/clinvar/54121 ^@ NM_007294.3(BRCA1):c.1082C>G (p.Ser361Ter) http://identifiers.org/clinvar/54171 ^@ NM_007294.3(BRCA1):c.1241dupA (p.Asp414Glufs) http://identifiers.org/clinvar/54221 ^@ NM_007294.3(BRCA1):c.1363_1364insGA (p.Asn455Argfs) http://identifiers.org/clinvar/54272 ^@ NM_007294.3(BRCA1):c.1504_1518delTTAAAGCGTAAAAGG (p.Leu502_Arg506del) http://identifiers.org/clinvar/54322 ^@ NM_007294.3(BRCA1):c.1673_1674delAA (p.Lys558Argfs) http://identifiers.org/clinvar/54373 ^@ NM_007294.3(BRCA1):c.1868T>C (p.Leu623Pro) http://identifiers.org/clinvar/54423 ^@ NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter) http://identifiers.org/clinvar/54473 ^@ NM_007294.3(BRCA1):c.213-2A>C http://identifiers.org/clinvar/54523 ^@ NM_007294.3(BRCA1):c.2292_2310dup19 (p.Leu771Argfs) http://identifiers.org/clinvar/54975 ^@ NM_007294.3(BRCA1):c.3715_3717delTCTinsC (p.Ser1239Profs) http://identifiers.org/clinvar/242664 ^@ NM_001142864.3(PIEZO1):c.2423G>A (p.Arg808Gln) http://identifiers.org/clinvar/56088 ^@ NM_000170.2(GLDC):c.2839-1G>C http://identifiers.org/clinvar/56142 ^@ NM_000310.3(PPT1):c.*526_*529delATCA http://identifiers.org/clinvar/56193 ^@ NM_000310.3(PPT1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/56244 ^@ NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) http://identifiers.org/clinvar/56294 ^@ NM_001042432.1(CLN3):c.963-1G>T http://identifiers.org/clinvar/56346 ^@ NM_001126105.2(SLC7A7):c.1005_1008delCTTT (p.Phe335Leufs) http://identifiers.org/clinvar/56397 ^@ NM_003332.3(TYROBP):c.262G>T (p.Glu88Ter) http://identifiers.org/clinvar/56448 ^@ NM_004646.3(NPHS1):c.1724C>A (p.Pro575Gln) http://identifiers.org/clinvar/56498 ^@ NM_004646.3(NPHS1):c.3356_3357dupGG (p.Thr1120Glyfs) http://identifiers.org/clinvar/56549 ^@ NM_007035.3(KERA):c.391A>G (p.Asn131Asp) http://identifiers.org/clinvar/56602 ^@ NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) http://identifiers.org/clinvar/56657 ^@ NM_017890.4(VPS13B):c.2934+1_2934+2delGT http://identifiers.org/clinvar/56707 ^@ NM_018941.3(CLN8):c.415C>T (p.His139Tyr) http://identifiers.org/clinvar/56757 ^@ NM_030943.3(AMN):c.683_730del48 (p.Gln228_Leu243del) http://identifiers.org/clinvar/56834 ^@ NM_000497.3(CYP11B1):c.928G>A (p.Glu310Lys) http://identifiers.org/clinvar/57017 ^@ GRCh38/hg38 3p26.3(chr3:2301168-2754945)x3 http://identifiers.org/clinvar/57071 ^@ GRCh38/hg38 6q27(chr6:170471093-170583214)x3 http://identifiers.org/clinvar/57126 ^@ GRCh38/hg38 8q24.13(chr8:122751607-123361569)x3 http://identifiers.org/clinvar/57177 ^@ GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3 http://identifiers.org/clinvar/57229 ^@ GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 http://identifiers.org/clinvar/57282 ^@ GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 http://identifiers.org/clinvar/57335 ^@ GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1 http://identifiers.org/clinvar/57388 ^@ GRCh38/hg38 1p35.2(chr1:30116821-30696608)x1 http://identifiers.org/clinvar/101155 ^@ NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10) http://identifiers.org/clinvar/101205 ^@ NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg) http://identifiers.org/clinvar/101255 ^@ NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val) http://identifiers.org/clinvar/101305 ^@ NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp) http://identifiers.org/clinvar/125639 ^@ U14680.1:n.3702delA http://identifiers.org/clinvar/125708 ^@ NM_007294.3(BRCA1):c.4357+117G>A http://identifiers.org/clinvar/125774 ^@ U14680.1:n.5271+65G>A http://identifiers.org/clinvar/125847 ^@ NM_007294.3(BRCA1):c.5407-21C>T http://identifiers.org/clinvar/125905 ^@ U14680.1:n.790-141C>A http://identifiers.org/clinvar/125973 ^@ NM_000059.3(BRCA2):c.1938C>A (p.Ser646Arg) http://identifiers.org/clinvar/126032 ^@ NM_000059.3(BRCA2):c.4008_4009insCATC (p.Asp1337Hisfs) http://identifiers.org/clinvar/126107 ^@ U43746.1:n.6741G>C http://identifiers.org/clinvar/126166 ^@ U43746.1:n.8397dupTGGG http://identifiers.org/clinvar/126232 ^@ NM_001080522.2(CC2D2A):c.2182-24C>T http://identifiers.org/clinvar/126282 ^@ NM_024809.4(TCTN2):c.1099+19T>C http://identifiers.org/clinvar/126333 ^@ NM_020732.3(ARID1B):c.4495A>T (p.Met1499Leu) http://identifiers.org/clinvar/126389 ^@ NM_016381.5(TREX1):c.665delG (p.Ser222Thrfs) http://identifiers.org/clinvar/126457 ^@ NM_006392.3(NOP56):c.3+71_3+76GGCCTG(650_?) http://identifiers.org/clinvar/126519 ^@ NM_005228.4(EGFR):c.2393T>A (p.Leu798His) http://identifiers.org/clinvar/126594 ^@ NM_024675.3(PALB2):c.1222T>C (p.Tyr408His) http://identifiers.org/clinvar/126645 ^@ NM_024675.3(PALB2):c.2301C>A (p.Val767=) http://identifiers.org/clinvar/126696 ^@ NM_024675.3(PALB2):c.2920_2921delAA (p.Lys974Glufs) http://identifiers.org/clinvar/126746 ^@ NM_024675.3(PALB2):c.3497delG (p.Gly1166Valfs) http://identifiers.org/clinvar/126797 ^@ NM_000321.2(RB1):c.2197C>T (p.His733Tyr) http://identifiers.org/clinvar/126848 ^@ NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter) http://identifiers.org/clinvar/126907 ^@ NM_007194.3(CHEK2):c.1067C>T (p.Ser356Leu) http://identifiers.org/clinvar/126957 ^@ NM_000428.2(LTBP2):c.4668G>C (p.Pro1556=) http://identifiers.org/clinvar/127007 ^@ NM_002485.4(NBN):c.*401C>G http://identifiers.org/clinvar/127057 ^@ NM_134424.3(RAD52):c.186+89C>T http://identifiers.org/clinvar/127115 ^@ NM_005051.2(QARS):c.134G>T (p.Gly45Val) http://identifiers.org/clinvar/127195 ^@ NM_007325.4(GRIA3):c.1888G>C (p.Gly630Arg) http://identifiers.org/clinvar/161390 ^@ NM_000488.3(SERPINC1):c.886G>C (p.Ala296Pro) http://identifiers.org/clinvar/161339 ^@ NM_000312.3(PROC):c.580C>T (p.Arg194Cys) http://identifiers.org/clinvar/161289 ^@ NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) http://identifiers.org/clinvar/161858 ^@ NM_206933.2(USH2A):c.5837G>T (p.Arg1946Leu) http://identifiers.org/clinvar/161658 ^@ NM_012090.5(MACF1):c.1523G>C (p.Arg508Thr) http://identifiers.org/clinvar/161758 ^@ NM_022168.3(IFIH1):c.816A>C (p.Glu272Asp) http://identifiers.org/clinvar/161508 ^@ NM_001063.3(TF):c.1069G>T (p.Glu357Ter) http://identifiers.org/clinvar/161708 ^@ NM_017639.3(DCHS2):c.3010G>A (p.Gly1004Arg) http://identifiers.org/clinvar/161808 ^@ NM_145028.4(ARMC12):c.682G>T (p.Asp228Tyr) http://identifiers.org/clinvar/161608 ^@ NM_003235.4(TG):c.3886T>A (p.Phe1296Ile) http://identifiers.org/clinvar/161458 ^@ NM_000093.4(COL5A1):c.3055C>G (p.Pro1019Ala) http://identifiers.org/clinvar/161558 ^@ NM_001185090.1(GRIN1):c.350C>T (p.Pro117Leu) http://identifiers.org/clinvar/162037 ^@ NM_000663.4(ABAT):c.199-?_316+?del http://identifiers.org/clinvar/162093 ^@ NM_018419.2(SOX18):c.481C>T (p.Gln161Ter) http://identifiers.org/clinvar/162157 ^@ NC_000021.8:g.(?_38007970)_(39747620_?)del http://identifiers.org/clinvar/162220 ^@ NM_001987.4(ETV6):c.1195C>T (p.Arg399Cys) http://identifiers.org/clinvar/162431 ^@ NM_002617.3(PEX10):c.337delC (p.Leu113Trpfs) http://identifiers.org/clinvar/162502 ^@ NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter) http://identifiers.org/clinvar/162582 ^@ NM_000426.3(LAMA2):c.9145C>G (p.Gln3049Glu) http://identifiers.org/clinvar/166415 ^@ NM_206933.2(USH2A):c.15281C>T (p.Pro5094Leu) http://identifiers.org/clinvar/165717 ^@ NM_133378.4(TTN):c.86960G>A (p.Arg28987His) http://identifiers.org/clinvar/178208 ^@ NM_133378.4(TTN):c.40756+5G>A http://identifiers.org/clinvar/166038 ^@ NM_133378.4(TTN):c.38853T>G (p.Val12951=) http://identifiers.org/clinvar/166531 ^@ NM_206933.2(USH2A):c.486-13G>A http://identifiers.org/clinvar/165874 ^@ NM_133378.4(TTN):c.60504T>A (p.Val20168=) http://identifiers.org/clinvar/178158 ^@ NM_003319.4(TTN):c.74730A>G (p.Leu24910=) http://identifiers.org/clinvar/178258 ^@ NM_001256850.1(TTN):c.10837G>A (p.Glu3613Lys) http://identifiers.org/clinvar/166270 ^@ NM_133379.4(TTN):c.12654T>G (p.Ile4218Met) http://identifiers.org/clinvar/166217 ^@ NM_001256850.1(TTN):c.14824+14C>T http://identifiers.org/clinvar/166320 ^@ NM_133378.4(TTN):c.4396T>C (p.Phe1466Leu) http://identifiers.org/clinvar/163138 ^@ NM_001369.2(DNAH5):c.8898G>A (p.Thr2966=) http://identifiers.org/clinvar/178508 ^@ NM_194248.2(OTOF):c.3332C>T (p.Pro1111Leu) http://identifiers.org/clinvar/165375 ^@ NM_198253.2(TERT):c.3324G>A (p.Pro1108=) http://identifiers.org/clinvar/165159 ^@ NM_198056.2(SCN5A):c.486C>T (p.Tyr162=) http://identifiers.org/clinvar/166608 ^@ NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp) http://identifiers.org/clinvar/165964 ^@ NM_133378.4(TTN):c.48096G>A (p.Trp16032Ter) http://identifiers.org/clinvar/178776 ^@ NM_032383.4(HPS3):c.970+7A>G http://identifiers.org/clinvar/165460 ^@ NM_147196.2(TMIE):c.191C>T (p.Ser64Leu) http://identifiers.org/clinvar/179816 ^@ NM_004415.3(DSP):c.3119A>G (p.Glu1040Gly) http://identifiers.org/clinvar/178108 ^@ NM_016203.3(PRKAG2):c.250C>T (p.Arg84Trp) http://identifiers.org/clinvar/178726 ^@ NM_001277115.1(DNAH11):c.4254+13G>A http://identifiers.org/clinvar/178658 ^@ NM_172244.2(SGCD):c.-378G>T http://identifiers.org/clinvar/200945 ^@ NM_170707.3(LMNA):c.1562G>T (p.Gly521Val) http://identifiers.org/clinvar/201194 ^@ NM_001035.2(RYR2):c.527G>A (p.Arg176Gln) http://identifiers.org/clinvar/201250 ^@ NM_001035.2(RYR2):c.4780G>A (p.Val1594Ile) http://identifiers.org/clinvar/201303 ^@ NM_001035.2(RYR2):c.10529G>A (p.Arg3510His) http://identifiers.org/clinvar/201360 ^@ NM_001035.2(RYR2):c.14695G>A (p.Asp4899Asn) http://identifiers.org/clinvar/201126 ^@ NM_174936.3(PCSK9):c.1380A>G (p.Val460=) http://identifiers.org/clinvar/201530 ^@ NM_198056.2(SCN5A):c.5144G>C (p.Gly1715Ala) http://identifiers.org/clinvar/201587 ^@ NM_198056.2(SCN5A):c.3840+5G>A http://identifiers.org/clinvar/201471 ^@ NM_198056.2(SCN5A):c.2209G>A (p.Glu737Lys) http://identifiers.org/clinvar/201417 ^@ NM_198056.2(SCN5A):c.1842A>G (p.Pro614=) http://identifiers.org/clinvar/201021 ^@ NM_130799.2(MEN1):c.1533_1534dupGT (p.Ser512Cysfs) http://identifiers.org/clinvar/201074 ^@ NM_002474.2(MYH11):c.4303G>A (p.Asp1435Asn) http://identifiers.org/clinvar/201644 ^@ NM_001103.3(ACTN2):c.1919G>A (p.Arg640His) http://identifiers.org/clinvar/201918 ^@ NM_144573.3(NEXN):c.542C>A (p.Thr181Lys) http://identifiers.org/clinvar/201699 ^@ NM_001927.3(DES):c.-30_-18dupGCGCCCGCCAGCC http://identifiers.org/clinvar/202090 ^@ NM_000337.5(SGCD):c.242_244delGAG (p.Gly81del) http://identifiers.org/clinvar/202147 ^@ NM_014000.2(VCL):c.2428G>A (p.Asp810Asn) http://identifiers.org/clinvar/202033 ^@ NM_004572.3(PKP2):c.1855G>T (p.Glu619Ter) http://identifiers.org/clinvar/201971 ^@ NM_004572.3(PKP2):c.457G>A (p.Asp153Asn) http://identifiers.org/clinvar/201810 ^@ NM_002230.2(JUP):c.406G>C (p.Asp136His) http://identifiers.org/clinvar/201863 ^@ NM_033118.3(MYLK2):c.1657C>T (p.Arg553Cys) http://identifiers.org/clinvar/201754 ^@ NM_004006.2(DMD):c.*23_*35delTGATTTGGGCAGA http://identifiers.org/clinvar/202324 ^@ NM_001256850.1(TTN):c.67078G>A (p.Ala22360Thr) http://identifiers.org/clinvar/232462 ^@ NM_005732.3(RAD50):c.1173A>G (p.Arg391=) http://identifiers.org/clinvar/233063 ^@ NM_005732.3(RAD50):c.1216G>A (p.Gly406Arg) http://identifiers.org/clinvar/233413 ^@ NM_005732.3(RAD50):c.2607G>A (p.Glu869=) http://identifiers.org/clinvar/232312 ^@ NM_005732.3(RAD50):c.2661G>A (p.Leu887=) http://identifiers.org/clinvar/233313 ^@ NM_000535.6(PMS2):c.2010A>G (p.Lys670=) http://identifiers.org/clinvar/233263 ^@ NM_002485.4(NBN):c.2158G>A (p.Glu720Lys) http://identifiers.org/clinvar/232562 ^@ NM_002485.4(NBN):c.1496C>T (p.Ser499Leu) http://identifiers.org/clinvar/233013 ^@ NM_000368.4(TSC1):c.3296A>G (p.Lys1099Arg) http://identifiers.org/clinvar/232512 ^@ NM_000051.3(ATM):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/233363 ^@ NM_000051.3(ATM):c.4401C>T (p.Asp1467=) http://identifiers.org/clinvar/232663 ^@ NM_000051.3(ATM):c.4506C>T (p.Cys1502=) http://identifiers.org/clinvar/232613 ^@ NM_005591.3(MRE11):c.2043G>A (p.Ser681=) http://identifiers.org/clinvar/232713 ^@ NM_000059.3(BRCA2):c.7093C>T (p.His2365Tyr) http://identifiers.org/clinvar/232863 ^@ NM_000059.3(BRCA2):c.7547C>T (p.Ser2516Phe) http://identifiers.org/clinvar/229713 ^@ NM_024675.3(PALB2):c.3165C>A (p.Tyr1055Ter) http://identifiers.org/clinvar/233463 ^@ NM_024675.3(PALB2):c.2108T>G (p.Leu703Ter) http://identifiers.org/clinvar/232763 ^@ NM_001042492.2(NF1):c.1917T>C (p.Asn639=) http://identifiers.org/clinvar/229663 ^@ NM_001042492.2(NF1):c.4384C>A (p.Arg1462=) http://identifiers.org/clinvar/232362 ^@ NM_001042492.2(NF1):c.5026G>A (p.Ala1676Thr) http://identifiers.org/clinvar/232913 ^@ NM_001042492.2(NF1):c.6967C>T (p.Leu2323=) http://identifiers.org/clinvar/232813 ^@ NM_007294.3(BRCA1):c.2393C>T (p.Pro798Leu) http://identifiers.org/clinvar/234979 ^@ NM_001148.4(ANK2):c.2987G>A (p.Arg996Gln) http://identifiers.org/clinvar/235030 ^@ NM_000257.3(MYH7):c.2508C>G (p.Ile836Met) http://identifiers.org/clinvar/235080 ^@ NM_033163.3(FGF8):c.317C>A (p.Ala106Glu) http://identifiers.org/clinvar/235215 ^@ NM_000260.3(MYO7A):c.4066A>T (p.Ser1356Cys) http://identifiers.org/clinvar/235269 ^@ NM_005199.4(CHRNG):c.1115C>T (p.Ser372Phe) http://identifiers.org/clinvar/235323 ^@ NM_199242.2(UNC13D):c.271G>A (p.Val91Met) http://identifiers.org/clinvar/235376 ^@ NM_001131025.1(PEX5):c.815T>C (p.Met272Thr) http://identifiers.org/clinvar/235430 ^@ NM_138477.2(CDAN1):c.2836C>T (p.Arg946Trp) http://identifiers.org/clinvar/235484 ^@ NM_025074.6(FRAS1):c.7551T>A (p.Tyr2517Ter) http://identifiers.org/clinvar/235537 ^@ NC_012920.1:m.9861T>C http://identifiers.org/clinvar/235588 ^@ NM_207361.5(FREM2):c.3116T>A (p.Met1039Lys) http://identifiers.org/clinvar/235638 ^@ NM_000199.3(SGSH):c.1283G>A (p.Arg428His) http://identifiers.org/clinvar/235693 ^@ NM_000693.3(ALDH1A3):c.43A>G (p.Arg15Gly) http://identifiers.org/clinvar/235755 ^@ NM_000263.3(NAGLU):c.421T>A (p.Ser141Thr) http://identifiers.org/clinvar/240292 ^@ NM_006172.3(NPPA):c.252C>T (p.Thr84=) http://identifiers.org/clinvar/239441 ^@ NM_003000.2(SDHB):c.722A>G (p.Tyr241Cys) http://identifiers.org/clinvar/237848 ^@ NM_000488.3(SERPINC1):c.1154G>A (p.Gly385Asp) http://identifiers.org/clinvar/238298 ^@ NM_001103.3(ACTN2):c.2082G>C (p.Lys694Asn) http://identifiers.org/clinvar/238348 ^@ NM_001128425.1(MUTYH):c.541T>G (p.Ser181Ala) http://identifiers.org/clinvar/238198 ^@ NM_000969.3(RPL5):c.325-4A>G http://identifiers.org/clinvar/238698 ^@ NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg) http://identifiers.org/clinvar/238798 ^@ NM_001267550.2(TTN):c.52731_52732delAG (p.Arg17577Serfs) http://identifiers.org/clinvar/237748 ^@ NM_000384.2(APOB):c.6136G>A (p.Val2046Ile) http://identifiers.org/clinvar/239841 ^@ NM_004304.4(ALK):c.4625C>T (p.Pro1542Leu) http://identifiers.org/clinvar/239791 ^@ NM_004304.4(ALK):c.1719C>T (p.Thr573=) http://identifiers.org/clinvar/237397 ^@ NM_000251.2(MSH2):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/240091 ^@ NM_005051.2(QARS):c.1635A>G (p.Gln545=) http://identifiers.org/clinvar/240041 ^@ NM_004656.3(BAP1):c.1035G>C (p.Gly345=) http://identifiers.org/clinvar/239591 ^@ NM_003924.3(PHOX2B):c.741_761del21 (p.Ala254_Ala260del) http://identifiers.org/clinvar/240342 ^@ NM_006206.4(PDGFRA):c.3083T>C (p.Val1028Ala) http://identifiers.org/clinvar/242231 ^@ NM_198253.2(TERT):c.2843+6C>T http://identifiers.org/clinvar/240242 ^@ NM_005732.3(RAD50):c.3799dupA (p.Ile1267Asnfs) http://identifiers.org/clinvar/239641 ^@ NM_004168.3(SDHA):c.1242C>T (p.Pro414=) http://identifiers.org/clinvar/238648 ^@ NM_001206927.1(DNAH8):c.47C>T (p.Ala16Val) http://identifiers.org/clinvar/237898 ^@ NM_000535.6(PMS2):c.2007-10C>T http://identifiers.org/clinvar/258001 ^@ NM_001369.2(DNAH5):c.13724-35T>A http://identifiers.org/clinvar/258051 ^@ NM_001369.2(DNAH5):c.6167A>T (p.Lys2056Ile) http://identifiers.org/clinvar/260041 ^@ NM_006846.3(SPINK5):c.1011-12C>T http://identifiers.org/clinvar/257551 ^@ NM_001135243.1(TCOF1):c.295G>A (p.Ala99Thr) http://identifiers.org/clinvar/260691 ^@ NM_016180.4(SLC45A2):c.1369-18T>C http://identifiers.org/clinvar/256062 ^@ NM_000426.3(LAMA2):c.2857-39T>C http://identifiers.org/clinvar/260841 ^@ NM_017651.4(AHI1):c.178A>G (p.Thr60Ala) http://identifiers.org/clinvar/260441 ^@ NM_014780.4(CUL7):c.3993G>A (p.Leu1331=) http://identifiers.org/clinvar/260191 ^@ NM_012120.2(CD2AP):c.696C>T (p.Ser232=) http://identifiers.org/clinvar/258351 ^@ NM_001851.4(COL9A1):c.1765-21G>A http://identifiers.org/clinvar/258151 ^@ NM_001458.4(FLNC):c.6004+11G>A http://identifiers.org/clinvar/259891 ^@ NM_005989.3(AKR1D1):c.*5A>C http://identifiers.org/clinvar/258801 ^@ NM_002769.4(PRSS1):c.592-9T>C http://identifiers.org/clinvar/257901 ^@ NM_001277115.1(DNAH11):c.4945-12T>C http://identifiers.org/clinvar/257851 ^@ NM_001277115.1(DNAH11):c.11203-4C>T http://identifiers.org/clinvar/255412 ^@ NM_000168.5(GLI3):c.*15dupA http://identifiers.org/clinvar/256162 ^@ NM_000443.3(ABCB4):c.2395-19C>T http://identifiers.org/clinvar/259590 ^@ NM_004959.4(NR5A1):c.375G>A (p.Pro125=) http://identifiers.org/clinvar/260141 ^@ NM_007171.3(POMT1):c.1764+11G>C http://identifiers.org/clinvar/255062 ^@ NM_000093.4(COL5A1):c.2431-25G>A http://identifiers.org/clinvar/260241 ^@ NM_012330.3(KAT6B):c.4074_4079delGGAGGA (p.Glu1367_Glu1368del) http://identifiers.org/clinvar/259741 ^@ NM_005271.4(GLUD1):c.647-14C>G http://identifiers.org/clinvar/255812 ^@ NM_000314.6(PTEN):c.210-39A>G http://identifiers.org/clinvar/255612 ^@ NM_000235.3(LIPA):c.67G>A (p.Gly23Arg) http://identifiers.org/clinvar/259941 ^@ NM_006204.3(PDE6C):c.1270-9C>T http://identifiers.org/clinvar/259540 ^@ NM_004771.3(MMP20):c.649+8T>C http://identifiers.org/clinvar/260791 ^@ NM_016952.4(CDON):c.3039C>T (p.Asn1013=) http://identifiers.org/clinvar/255662 ^@ NM_000260.3(MYO7A):c.3375+33G>C http://identifiers.org/clinvar/256112 ^@ NM_000431.3(MVK):c.1040-5C>T http://identifiers.org/clinvar/258201 ^@ NM_001843.3(CNTN1):c.401-14delT http://identifiers.org/clinvar/255762 ^@ NM_000289.5(PFKM):c.428-39G>A http://identifiers.org/clinvar/255162 ^@ NM_000123.3(ERCC5):c.945C>T (p.His315=) http://identifiers.org/clinvar/258251 ^@ NM_001845.5(COL4A1):c.3189A>T (p.Arg1063=) http://identifiers.org/clinvar/260391 ^@ NM_014363.5(SACS):c.11032C>G (p.Pro3678Ala) http://identifiers.org/clinvar/257101 ^@ NM_001024858.2(SPTB):c.2060G>A (p.Arg687His) http://identifiers.org/clinvar/260291 ^@ NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) http://identifiers.org/clinvar/260491 ^@ NM_014967.4(FAN1):c.3015T>C (p.His1005=) http://identifiers.org/clinvar/333036 ^@ NM_002500.4(NEUROD1):c.973C>A (p.Arg325Ser) http://identifiers.org/clinvar/332836 ^@ NM_133378.4(TTN):c.45878-4A>G http://identifiers.org/clinvar/333236 ^@ NM_005259.2(MSTN):c.674T>C (p.Ile225Thr) http://identifiers.org/clinvar/333486 ^@ NM_032977.3(CASP10):c.*2979C>T http://identifiers.org/clinvar/333536 ^@ NM_001044385.2(TMEM237):c.*2960C>A http://identifiers.org/clinvar/333636 ^@ NM_001204.6(BMPR2):c.-93A>G http://identifiers.org/clinvar/333736 ^@ NM_012092.3(ICOS):c.501+7G>A http://identifiers.org/clinvar/333386 ^@ NM_001006657.1(WDR35):c.2140A>G (p.Thr714Ala) http://identifiers.org/clinvar/333886 ^@ NM_015040.3(PIKFYVE):c.279A>G (p.Lys93=) http://identifiers.org/clinvar/336794 ^@ NM_002056.3(GFPT1):c.*5261G>C http://identifiers.org/clinvar/333586 ^@ NM_020919.3(ALS2):c.4404-14C>T http://identifiers.org/clinvar/336994 ^@ NM_003124.4(SPR):c.*308C>T http://identifiers.org/clinvar/337044 ^@ NM_080916.2(DGUOK):c.-1G>A http://identifiers.org/clinvar/333786 ^@ NM_005006.6(NDUFS1):c.364G>A (p.Ala122Thr) http://identifiers.org/clinvar/337094 ^@ NM_004082.4(DCTN1):c.646-15G>A http://identifiers.org/clinvar/333836 ^@ NM_014929.3(FASTKD2):c.*2009_*2010delAA http://identifiers.org/clinvar/334187 ^@ NM_000384.2(APOB):c.288G>T (p.Gln96His) http://identifiers.org/clinvar/337394 ^@ NM_004836.6(EIF2AK3):c.*360C>T http://identifiers.org/clinvar/337544 ^@ NM_014014.4(SNRNP200):c.4056G>A (p.Thr1352=) http://identifiers.org/clinvar/336894 ^@ NM_001002755.2(NFU1):c.62+10G>A http://identifiers.org/clinvar/334388 ^@ NM_025216.2(WNT10A):c.-202G>C http://identifiers.org/clinvar/342324 ^@ NM_016247.3(IMPG2):c.*380C>A http://identifiers.org/clinvar/342424 ^@ NM_000551.3(VHL):c.*1023G>A http://identifiers.org/clinvar/342474 ^@ NM_000551.3(VHL):c.*2548_*2549delGA http://identifiers.org/clinvar/337194 ^@ NM_000821.6(GGCX):c.*3647A>G http://identifiers.org/clinvar/342674 ^@ NM_020754.3(ARHGAP31):c.3983G>A (p.Arg1328Gln) http://identifiers.org/clinvar/337344 ^@ NM_022912.2(REEP1):c.*2920T>G http://identifiers.org/clinvar/342524 ^@ NM_198196.2(CD96):c.584G>A (p.Gly195Asp) http://identifiers.org/clinvar/350503 ^@ NM_005460.3(SNCAIP):c.2710A>G (p.Lys904Glu) http://identifiers.org/clinvar/350553 ^@ NM_001182.4(ALDH7A1):c.*1496T>A http://identifiers.org/clinvar/350703 ^@ NM_032446.2(MEGF10):c.*2236C>A http://identifiers.org/clinvar/354579 ^@ NM_002397.4(MEF2C):c.*1337A>T http://identifiers.org/clinvar/350603 ^@ NM_005573.3(LMNB1):c.-552G>A http://identifiers.org/clinvar/357519 ^@ NM_018100.3(EFHC1):c.*1876T>G http://identifiers.org/clinvar/350653 ^@ NM_032446.2(MEGF10):c.1673G>T (p.Arg558Leu) http://identifiers.org/clinvar/350803 ^@ NM_198253.2(TERT):c.663G>T (p.Ala221=) http://identifiers.org/clinvar/350853 ^@ NM_014402.4(UQCRQ):c.*756C>T http://identifiers.org/clinvar/350753 ^@ NM_001999.3(FBN2):c.*119C>T http://identifiers.org/clinvar/357719 ^@ NM_001142800.1(EYS):c.3345A>G (p.Glu1115=) http://identifiers.org/clinvar/354929 ^@ NM_014028.3(OSTM1):c.*2990T>C http://identifiers.org/clinvar/351053 ^@ NM_001369.2(DNAH5):c.8273A>C (p.Glu2758Ala) http://identifiers.org/clinvar/351103 ^@ NM_001369.2(DNAH5):c.5022T>A (p.Ser1674Arg) http://identifiers.org/clinvar/350953 ^@ NM_017415.2(KLHL3):c.*2248C>T http://identifiers.org/clinvar/355029 ^@ NM_014845.5(FIG4):c.-121G>A http://identifiers.org/clinvar/355079 ^@ NM_000493.3(COL10A1):c.*328delA http://identifiers.org/clinvar/351003 ^@ NM_017415.2(KLHL3):c.-352G>A http://identifiers.org/clinvar/355180 ^@ NM_000165.4(GJA1):c.*968T>C http://identifiers.org/clinvar/351253 ^@ NM_005219.4(DIAPH1):c.*1765_*1766dupCT http://identifiers.org/clinvar/351353 ^@ NM_001018077.1(NR3C1):c.*752A>G http://identifiers.org/clinvar/355480 ^@ NM_017651.4(AHI1):c.*1426A>T http://identifiers.org/clinvar/352340 ^@ NM_000337.5(SGCD):c.*317C>T http://identifiers.org/clinvar/352590 ^@ NM_000806.5(GABRA1):c.-220T>C http://identifiers.org/clinvar/352390 ^@ NM_000337.5(SGCD):c.*4395A>T http://identifiers.org/clinvar/352640 ^@ NM_000816.3(GABRG2):c.402C>G (p.Val134=) http://identifiers.org/clinvar/352440 ^@ NM_000337.5(SGCD):c.*7506C>G http://identifiers.org/clinvar/360168 ^@ NM_000168.5(GLI3):c.*2465G>C http://identifiers.org/clinvar/352690 ^@ NM_001034850.2(RETREG1):c.808+6T>C http://identifiers.org/clinvar/360368 ^@ NM_014855.2(AP5Z1):c.*910G>A http://identifiers.org/clinvar/360418 ^@ NM_014855.2(AP5Z1):c.*2849G>T http://identifiers.org/clinvar/360568 ^@ NM_000048.3(ASL):c.1124A>G (p.Tyr375Cys) http://identifiers.org/clinvar/352790 ^@ NM_001017995.2(SH3PXD2B):c.*636G>T http://identifiers.org/clinvar/357119 ^@ NM_001024630.3(RUNX2):c.*1859A>G http://identifiers.org/clinvar/352990 ^@ NM_000505.3(F12):c.1251-12C>A http://identifiers.org/clinvar/357219 ^@ NM_012120.2(CD2AP):c.*1606G>A http://identifiers.org/clinvar/353090 ^@ NM_014244.4(ADAMTS2):c.3342C>T (p.Asn1114=) http://identifiers.org/clinvar/352940 ^@ NM_022455.4(NSD1):c.*4541dupA http://identifiers.org/clinvar/360818 ^@ NM_005751.4(AKAP9):c.2328G>A (p.Glu776=) http://identifiers.org/clinvar/357369 ^@ NM_138694.3(PKHD1):c.*2553dupA http://identifiers.org/clinvar/357469 ^@ NM_052872.3(IL17F):c.377A>G (p.Glu126Gly) http://identifiers.org/clinvar/353340 ^@ NM_004172.4(SLC1A3):c.*694T>C http://identifiers.org/clinvar/353440 ^@ NM_023073.3(C5orf42):c.7099A>G (p.Lys2367Glu) http://identifiers.org/clinvar/361168 ^@ NM_015713.4(RRM2B):c.*788T>C http://identifiers.org/clinvar/357669 ^@ NM_000129.3(F13A1):c.2029A>G (p.Met677Val) http://identifiers.org/clinvar/353290 ^@ NM_002185.3(IL7R):c.*1326A>G http://identifiers.org/clinvar/361368 ^@ NM_178857.5(RP1L1):c.1779G>A (p.Thr593=) http://identifiers.org/clinvar/353390 ^@ NM_133433.3(NIPBL):c.8236G>A (p.Gly2746Ser) http://identifiers.org/clinvar/299870 ^@ NM_021252.4(RAB18):c.*3453G>A http://identifiers.org/clinvar/299970 ^@ NM_002900.2(RBP3):c.2121G>A (p.Glu707=) http://identifiers.org/clinvar/361118 ^@ NM_017890.4(VPS13B):c.*1345C>T http://identifiers.org/clinvar/361068 ^@ NM_017890.4(VPS13B):c.5738T>C (p.Ile1913Thr) http://identifiers.org/clinvar/307203 ^@ NM_001082538.2(TCTN1):c.14G>A (p.Gly5Asp) http://identifiers.org/clinvar/307453 ^@ NM_000017.3(ACADS):c.*527A>G http://identifiers.org/clinvar/307553 ^@ NM_024809.4(TCTN2):c.776A>G (p.Gln259Arg) http://identifiers.org/clinvar/307653 ^@ NM_004064.4(CDKN1B):c.-271delC http://identifiers.org/clinvar/364906 ^@ NM_002316.3(LMX1B):c.*515A>G http://identifiers.org/clinvar/364956 ^@ NM_002316.3(LMX1B):c.*2459_*2461delCTT http://identifiers.org/clinvar/300959 ^@ NM_002247.3(KCNMA1):c.3159G>A (p.Ala1053=) http://identifiers.org/clinvar/365006 ^@ NM_138361.5(LRSAM1):c.-328_-326delTGT http://identifiers.org/clinvar/307953 ^@ NM_006446.4(SLCO1B1):c.1459G>T (p.Ala487Ser) http://identifiers.org/clinvar/365056 ^@ NM_003165.3(STXBP1):c.*316C>T http://identifiers.org/clinvar/301059 ^@ NM_007055.3(POLR3A):c.2286C>T (p.His762=) http://identifiers.org/clinvar/365156 ^@ NM_001130438.2(SPTAN1):c.922G>A (p.Glu308Lys) http://identifiers.org/clinvar/308153 ^@ NM_000719.6(CACNA1C):c.4526+12G>C http://identifiers.org/clinvar/364856 ^@ NM_000550.2(TYRP1):c.1029C>T (p.Asp343=) http://identifiers.org/clinvar/301209 ^@ NM_033100.3(CDHR1):c.138G>A (p.Glu46=) http://identifiers.org/clinvar/365106 ^@ NM_000118.3(ENG):c.-338G>A http://identifiers.org/clinvar/365456 ^@ NM_000368.4(TSC1):c.*2364T>A http://identifiers.org/clinvar/301409 ^@ NM_000314.6(PTEN):c.-511G>A http://identifiers.org/clinvar/301459 ^@ NM_000314.6(PTEN):c.*1459T>A http://identifiers.org/clinvar/301509 ^@ NM_001613.2(ACTA2):c.390T>C (p.Asn130=) http://identifiers.org/clinvar/301609 ^@ NM_014391.2(ANKRD1):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/365706 ^@ NM_000093.4(COL5A1):c.431C>A (p.Thr144Lys) http://identifiers.org/clinvar/365306 ^@ NM_015046.5(SETX):c.*2232T>C http://identifiers.org/clinvar/301709 ^@ NM_016341.3(PLCE1):c.2770G>A (p.Gly924Ser) http://identifiers.org/clinvar/365756 ^@ NM_000093.4(COL5A1):c.*660G>A http://identifiers.org/clinvar/365356 ^@ NM_015046.5(SETX):c.4020G>T (p.Lys1340Asn) http://identifiers.org/clinvar/309092 ^@ NM_003482.3(KMT2D):c.188T>C (p.Val63Ala) http://identifiers.org/clinvar/365406 ^@ NM_000368.4(TSC1):c.*3988G>A http://identifiers.org/clinvar/365806 ^@ NM_014564.4(LHX3):c.*501A>T http://identifiers.org/clinvar/309242 ^@ NM_000486.5(AQP2):c.*485C>T http://identifiers.org/clinvar/365656 ^@ NM_000787.3(DBH):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/366007 ^@ NM_024757.4(EHMT1):c.1299C>T (p.Thr433=) http://identifiers.org/clinvar/301959 ^@ NM_002427.3(MMP13):c.*1102T>C http://identifiers.org/clinvar/365957 ^@ NM_016219.4(MAN1B1):c.792C>T (p.Tyr264=) http://identifiers.org/clinvar/302509 ^@ NM_000039.2(APOA1):c.116C>T (p.Ala39Val) http://identifiers.org/clinvar/340535 ^@ NM_006031.5(PCNT):c.8399G>A (p.Arg2800Gln) http://identifiers.org/clinvar/312796 ^@ NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr) http://identifiers.org/clinvar/312846 ^@ NM_002471.3(MYH6):c.5347C>T (p.Arg1783Cys) http://identifiers.org/clinvar/313146 ^@ NM_001079668.2(NKX2-1):c.201G>A (p.Pro67=) http://identifiers.org/clinvar/341374 ^@ NM_000362.4(TIMP3):c.*1812dupA http://identifiers.org/clinvar/313446 ^@ NM_005982.3(SIX1):c.*1008delA http://identifiers.org/clinvar/341774 ^@ NM_001429.3(EP300):c.157T>C (p.Leu53=) http://identifiers.org/clinvar/341824 ^@ NM_001429.3(EP300):c.6516C>A (p.His2172Gln) http://identifiers.org/clinvar/315435 ^@ NM_022807.4(SNRPN):c.-579+5G>A http://identifiers.org/clinvar/341924 ^@ NM_025225.2(PNPLA3):c.-44C>G http://identifiers.org/clinvar/341974 ^@ NM_006953.3(UPK3A):c.402C>T (p.Val134=) http://identifiers.org/clinvar/323270 ^@ NM_012232.5(CAVIN1):c.*522G>A http://identifiers.org/clinvar/323320 ^@ NM_032387.4(WNK4):c.1524T>C (p.Arg508=) http://identifiers.org/clinvar/342124 ^@ NM_005138.2(SCO2):c.276A>G (p.Glu92=) http://identifiers.org/clinvar/323520 ^@ NM_000342.3(SLC4A1):c.173A>G (p.Tyr58Cys) http://identifiers.org/clinvar/315785 ^@ NM_152594.2(SPRED1):c.*4932A>G http://identifiers.org/clinvar/315835 ^@ NM_002225.3(IVD):c.*2850A>G http://identifiers.org/clinvar/313946 ^@ NM_000021.3(PSEN1):c.337C>T (p.Leu113=) http://identifiers.org/clinvar/323720 ^@ NM_005910.5(MAPT):c.*3381G>C http://identifiers.org/clinvar/323920 ^@ NM_018129.3(PNPO):c.*656_*657dupTT http://identifiers.org/clinvar/323970 ^@ NM_000080.3(CHRNE):c.*267C>T http://identifiers.org/clinvar/368375 ^@ NM_153380.3(ZNF41):c.348C>T (p.Phe116=) http://identifiers.org/clinvar/324120 ^@ NM_000088.3(COL1A1):c.298+7C>A http://identifiers.org/clinvar/368425 ^@ NM_007137.3(ZNF81):c.*2624A>G http://identifiers.org/clinvar/368575 ^@ NM_006306.3(SMC1A):c.*2050T>C http://identifiers.org/clinvar/324329 ^@ NM_032043.2(BRIP1):c.*1263A>G http://identifiers.org/clinvar/368675 ^@ NM_001109878.1(TBX22):c.*347T>C http://identifiers.org/clinvar/368725 ^@ NM_153252.4(BRWD3):c.3326-14dupT http://identifiers.org/clinvar/314785 ^@ NM_018418.4(SPATA7):c.971G>A (p.Gly324Glu) http://identifiers.org/clinvar/314885 ^@ NM_006329.3(FBLN5):c.-152C>T http://identifiers.org/clinvar/314985 ^@ NM_004239.4(TRIP11):c.-128C>T http://identifiers.org/clinvar/315385 ^@ NM_144599.4(NIPA1):c.*2079T>G http://identifiers.org/clinvar/315335 ^@ NM_144599.4(NIPA1):c.*5331T>G http://identifiers.org/clinvar/315535 ^@ NM_002420.5(TRPM1):c.312T>C (p.His104=) http://identifiers.org/clinvar/315685 ^@ NM_005159.4(ACTC1):c.*674C>A http://identifiers.org/clinvar/315235 ^@ NM_139057.3(ADAMTS17):c.*359A>G http://identifiers.org/clinvar/315885 ^@ NM_016013.3(NDUFAF1):c.-352C>T http://identifiers.org/clinvar/315935 ^@ NM_138477.2(CDAN1):c.2406C>T (p.Ile802=) http://identifiers.org/clinvar/315985 ^@ NM_173500.3(TTBK2):c.2295G>T (p.Leu765=) http://identifiers.org/clinvar/318025 ^@ NM_001143979.1(NDE1):c.-512dupT http://identifiers.org/clinvar/325869 ^@ NM_001139.2(ALOX12B):c.1926+9C>T http://identifiers.org/clinvar/372376 ^@ NM_000238.3(KCNH2):c.545C>A (p.Ser182Ter) http://identifiers.org/clinvar/372586 ^@ NM_007373.3(SHOC2):c.514C>T (p.Arg172Trp) http://identifiers.org/clinvar/372535 ^@ NM_000359.2(TGM1):c.1082T>C (p.Ile361Thr) http://identifiers.org/clinvar/373146 ^@ NM_001376.4(DYNC1H1):c.1869C>G (p.Phe623Leu) http://identifiers.org/clinvar/372483 ^@ NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser) http://identifiers.org/clinvar/372427 ^@ NM_000257.3(MYH7):c.485A>G (p.Tyr162Cys) http://identifiers.org/clinvar/372637 ^@ NM_030662.3(MAP2K2):c.541T>A (p.Leu181Met) http://identifiers.org/clinvar/373096 ^@ NM_001399.4(EDA):c.932A>C (p.Tyr311Ser) http://identifiers.org/clinvar/374188 ^@ NM_001942.3(DSG1):c.1176T>G (p.Tyr392Ter) http://identifiers.org/clinvar/374138 ^@ NM_005120.2(MED12):c.4342G>A (p.Gly1448Arg) http://identifiers.org/clinvar/374242 ^@ NM_012330.3(KAT6B):c.3154_3169del16 (p.Arg1052Serfs) http://identifiers.org/clinvar/374312 ^@ NM_005502.3(ABCA1):c.2803A>G (p.Asn935Asp) http://identifiers.org/clinvar/374377 ^@ NM_207036.1(TCF12):c.1876C>T (p.Arg626Ter) http://identifiers.org/clinvar/374430 ^@ NM_030962.3(SBF2):c.3865C>T (p.Arg1289Trp) http://identifiers.org/clinvar/374480 ^@ NM_014191.3(SCN8A):c.2691T>C (p.Phe897=) http://identifiers.org/clinvar/374530 ^@ NM_005097.3(LGI1):c.1300G>T (p.Ala434Ser) http://identifiers.org/clinvar/374580 ^@ NM_001040142.1(SCN2A):c.5580T>G (p.Ala1860=) http://identifiers.org/clinvar/374630 ^@ NM_138361.5(LRSAM1):c.1026G>T (p.Leu342=) http://identifiers.org/clinvar/374680 ^@ NM_000548.4(TSC2):c.2356C>T (p.Arg786Cys) http://identifiers.org/clinvar/374730 ^@ NM_020732.3(ARID1B):c.919_933delGGCGGCGGCGGCGGC (p.Gly315_Gly319del) http://identifiers.org/clinvar/374781 ^@ NM_130837.2(OPA1):c.1230+5G>A http://identifiers.org/clinvar/374840 ^@ NM_003245.3(TGM3):c.1351C>T (p.Gln451Ter) http://identifiers.org/clinvar/374890 ^@ NM_022089.3(ATP13A2):c.1345C>T (p.Arg449Ter) http://identifiers.org/clinvar/374957 ^@ NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) http://identifiers.org/clinvar/375227 ^@ NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del http://identifiers.org/clinvar/375342 ^@ NM_182476.2(COQ6):c.763G>A (p.Gly255Arg) http://identifiers.org/clinvar/375394 ^@ NM_001037161.1(ACOT1):c.410_423delAGCCGGTGCGCGCG (p.Glu137Glyfs) http://identifiers.org/clinvar/375449 ^@ NM_007294.3(BRCA1):c.3902G>A (p.Ser1301Asn) http://identifiers.org/clinvar/375517 ^@ NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser) http://identifiers.org/clinvar/375575 ^@ NM_017780.3(CHD7):c.1552C>T (p.Gln518Ter) http://identifiers.org/clinvar/375634 ^@ NM_003482.3(KMT2D):c.2994delT (p.Met999Terfs) http://identifiers.org/clinvar/375697 ^@ NM_032387.4(WNK4):c.1682C>T (p.Pro561Leu) http://identifiers.org/clinvar/375779 ^@ NM_000527.4(LDLR):c.244_250dupTGCATTC (p.Pro84Leufs) http://identifiers.org/clinvar/385876 ^@ NM_000179.2(MSH6):c.3915T>C (p.Leu1305=) http://identifiers.org/clinvar/380289 ^@ NM_000551.3(VHL):c.*7C>A http://identifiers.org/clinvar/389275 ^@ NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp) http://identifiers.org/clinvar/379238 ^@ NM_006302.2(MOGS):c.1801C>T (p.Arg601Ter) http://identifiers.org/clinvar/389625 ^@ NM_053025.3(MYLK):c.755-12C>T http://identifiers.org/clinvar/385676 ^@ NM_144736.4(NDUFAF7):c.846C>T (p.Ile282=) http://identifiers.org/clinvar/382934 ^@ NM_005051.2(QARS):c.451+18C>T http://identifiers.org/clinvar/381882 ^@ NM_000158.3(GBE1):c.333G>C (p.Ser111=) http://identifiers.org/clinvar/378141 ^@ NM_000249.3(MLH1):c.1095T>C (p.Ser365=) http://identifiers.org/clinvar/377739 ^@ NM_000094.3(COL7A1):c.3446A>G (p.Asp1149Gly) http://identifiers.org/clinvar/382132 ^@ NM_006005.3(WFS1):c.-27C>T http://identifiers.org/clinvar/389575 ^@ NM_015120.4(ALMS1):c.3106C>T (p.Pro1036Ser) http://identifiers.org/clinvar/382884 ^@ NM_152778.2(MFSD8):c.544C>T (p.Leu182=) http://identifiers.org/clinvar/379989 ^@ NM_015929.3(LIPT1):c.-128+19C>T http://identifiers.org/clinvar/384436 ^@ NM_001999.3(FBN2):c.4550G>A (p.Cys1517Tyr) http://identifiers.org/clinvar/391264 ^@ NM_001999.3(FBN2):c.2013G>A (p.Gly671=) http://identifiers.org/clinvar/379338 ^@ NM_001034850.2(RETREG1):c.380G>A (p.Arg127His) http://identifiers.org/clinvar/384336 ^@ NM_018901.3(PCDHA10):c.897A>T (p.Gly299=) http://identifiers.org/clinvar/379688 ^@ NM_181523.2(PIK3R1):c.1042C>T (p.Arg348Ter) http://identifiers.org/clinvar/380339 ^@ NM_033071.3(SYNE1):c.887G>C (p.Ser296Thr) http://identifiers.org/clinvar/385526 ^@ NM_001457.3(FLNB):c.6315C>T (p.Ala2105=) http://identifiers.org/clinvar/391864 ^@ NM_013352.3(DSE):c.359T>C (p.Ile120Thr) http://identifiers.org/clinvar/382483 ^@ NM_000108.4(DLD):c.321A>G (p.Ala107=) http://identifiers.org/clinvar/392114 ^@ NM_000108.4(DLD):c.-7C>G http://identifiers.org/clinvar/377489 ^@ NM_000038.5(APC):c.1313-18G>A http://identifiers.org/clinvar/386226 ^@ NM_001127500.2(MET):c.1201-14A>G http://identifiers.org/clinvar/377889 ^@ NM_001458.4(FLNC):c.3476G>A (p.Arg1159Gln) http://identifiers.org/clinvar/385776 ^@ NM_000535.6(PMS2):c.1203T>C (p.Asp401=) http://identifiers.org/clinvar/392164 ^@ NM_000238.3(KCNH2):c.2296G>T (p.Gly766Trp) http://identifiers.org/clinvar/391614 ^@ NM_000722.3(CACNA2D1):c.-40C>T http://identifiers.org/clinvar/391814 ^@ NM_032415.5(CARD11):c.2900G>A (p.Arg967His) http://identifiers.org/clinvar/385376 ^@ NM_001130438.2(SPTAN1):c.5649T>C (p.Asn1883=) http://identifiers.org/clinvar/379388 ^@ NM_024790.6(CSPP1):c.2615G>A (p.Arg872His) http://identifiers.org/clinvar/390175 ^@ NM_020822.2(KCNT1):c.3632C>G (p.Ser1211Cys) http://identifiers.org/clinvar/380189 ^@ NM_001167734.1(VARS2):c.280G>A (p.Gly94Arg) http://identifiers.org/clinvar/384286 ^@ NM_001134363.2(RBM20):c.1620G>A (p.Leu540=) http://identifiers.org/clinvar/386176 ^@ NM_001130438.2(SPTAN1):c.6343G>T (p.Ala2115Ser) http://identifiers.org/clinvar/133078 ^@ NM_000540.2(RYR1):c.14578T>G (p.Phe4860Val) http://identifiers.org/clinvar/133571 ^@ NM_152641.3(ARID2):c.4705G>A (p.Ala1569Thr) http://identifiers.org/clinvar/133621 ^@ NM_000051.3(ATM):c.4779A>G (p.Glu1593=) http://identifiers.org/clinvar/133671 ^@ NM_001706.4(BCL6):c.905A>G (p.Glu302Gly) http://identifiers.org/clinvar/133721 ^@ NM_007294.3(BRCA1):c.290C>T (p.Thr97Ile) http://identifiers.org/clinvar/133775 ^@ NM_001211.5(BUB1B):c.676A>C (p.Thr226Pro) http://identifiers.org/clinvar/133825 ^@ NM_001321786.1(CBLB):c.2731A>G (p.Asn911Asp) http://identifiers.org/clinvar/133875 ^@ NM_000075.3(CDK4):c.523G>A (p.Val175Ile) http://identifiers.org/clinvar/133925 ^@ NM_004380.2(CREBBP):c.2539C>A (p.Pro847Thr) http://identifiers.org/clinvar/133975 ^@ NM_177438.2(DICER1):c.1013A>C (p.Glu338Ala) http://identifiers.org/clinvar/134025 ^@ NM_005228.4(EGFR):c.2024G>A (p.Arg675Gln) http://identifiers.org/clinvar/134077 ^@ NM_001005862.2(ERBB2):c.2350C>T (p.Arg784Cys) http://identifiers.org/clinvar/134127 ^@ NM_000122.1(ERCC3):c.682G>C (p.Gly228Arg) http://identifiers.org/clinvar/134177 ^@ NM_000123.3(ERCC5):c.362C>T (p.Thr121Ile) http://identifiers.org/clinvar/134227 ^@ NM_004456.4(EZH2):c.1181G>C (p.Gly394Ala) http://identifiers.org/clinvar/134278 ^@ NM_000135.2(FANCA):c.3982A>G (p.Thr1328Ala) http://identifiers.org/clinvar/134328 ^@ NM_033084.4(FANCD2):c.577A>G (p.Thr193Ala) http://identifiers.org/clinvar/134379 ^@ NM_001013415.1(FBXW7):c.134T>G (p.Phe45Cys) http://identifiers.org/clinvar/134429 ^@ NM_144606.5(FLCN):c.992C>T (p.Thr331Met) http://identifiers.org/clinvar/134479 ^@ NM_001077490.2(GNAS):c.1120C>A (p.Pro374Thr) http://identifiers.org/clinvar/134529 ^@ NM_002185.3(IL7R):c.772A>G (p.Ile258Val) http://identifiers.org/clinvar/134579 ^@ NM_000215.3(JAK3):c.3268G>A (p.Ala1090Thr) http://identifiers.org/clinvar/134629 ^@ NM_000222.2(KIT):c.1195G>A (p.Val399Ile) http://identifiers.org/clinvar/134681 ^@ NM_003482.3(KMT2D):c.5546G>A (p.Gly1849Glu) http://identifiers.org/clinvar/134732 ^@ NM_003482.3(KMT2D):c.553C>T (p.Arg185Cys) http://identifiers.org/clinvar/134782 ^@ NM_170606.2(KMT2C):c.9425A>G (p.Gln3142Arg) http://identifiers.org/clinvar/134833 ^@ NM_005373.2(MPL):c.733G>A (p.Gly245Arg) http://identifiers.org/clinvar/134886 ^@ NM_001042492.2(NF1):c.456A>G (p.Ala152=) http://identifiers.org/clinvar/134936 ^@ NM_017617.4(NOTCH1):c.4276C>T (p.His1426Tyr) http://identifiers.org/clinvar/134986 ^@ NM_024408.3(NOTCH2):c.7209T>A (p.Ser2403Arg) http://identifiers.org/clinvar/136108 ^@ NM_020975.4(RET):c.2166G>T (p.Lys722Asn) http://identifiers.org/clinvar/187512 ^@ NM_001042492.2(NF1):c.7663A>G (p.Lys2555Glu) http://identifiers.org/clinvar/187712 ^@ NM_058216.2(RAD51C):c.59C>G (p.Ser20Cys) http://identifiers.org/clinvar/187562 ^@ NM_032043.2(BRIP1):c.2582C>G (p.Ser861Cys) http://identifiers.org/clinvar/186762 ^@ NM_000546.5(TP53):c.1135C>A (p.Arg379Ser) http://identifiers.org/clinvar/187062 ^@ NM_000455.4(STK11):c.828C>A (p.Gly276=) http://identifiers.org/clinvar/187766 ^@ NM_007254.3(PNKP):c.1123G>T (p.Gly375Trp) http://identifiers.org/clinvar/187823 ^@ NC_000016.9:g.(?_21601904)_(21739542_?)del http://identifiers.org/clinvar/187895 ^@ NM_005957.4(MTHFR):c.1530+2T>C http://identifiers.org/clinvar/187945 ^@ NM_004409.4(DMPK):c.*224_*226[241] http://identifiers.org/clinvar/187995 ^@ NM_004409.4(DMPK):c.*224_*226[508] http://identifiers.org/clinvar/188704 ^@ NM_001018005.1(TPM1):c.746T>G (p.Leu249Trp) http://identifiers.org/clinvar/188804 ^@ NM_000642.2(AGL):c.2309-1G>A http://identifiers.org/clinvar/188754 ^@ NM_138694.3(PKHD1):c.11524C>T (p.Arg3842Ter) http://identifiers.org/clinvar/189106 ^@ NM_000466.2(PEX1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/189156 ^@ NM_001128227.2(GNE):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/188905 ^@ NM_000352.4(ABCC8):c.2857C>T (p.Gln953Ter) http://identifiers.org/clinvar/188955 ^@ NM_000543.4(SMPD1):c.1805G>A (p.Arg602His) http://identifiers.org/clinvar/189056 ^@ NM_000053.3(ATP7B):c.3598C>T (p.Gln1200Ter) http://identifiers.org/clinvar/188854 ^@ NM_000295.4(SERPINA1):c.552C>G (p.Tyr184Ter) http://identifiers.org/clinvar/189006 ^@ NM_000152.4(GAA):c.2024_2026delACA (p.Asn675del) http://identifiers.org/clinvar/189219 ^@ NC_000023.10:g.(154104116_154124111)_(154564398_154628663)del http://identifiers.org/clinvar/189274 ^@ NM_014795.3(ZEB2):c.1749C>A (p.Cys583Ter) http://identifiers.org/clinvar/189333 ^@ NM_012130.3(CLDN14):c.694G>A (p.Gly232Arg) http://identifiers.org/clinvar/242612 ^@ NM_014783.5(ARHGAP11A):c.1355C>G (p.Ser452Cys) http://identifiers.org/clinvar/189484 ^@ NM_000314.6(PTEN):c.385G>A (p.Gly129Arg) http://identifiers.org/clinvar/189424 ^@ NM_000314.6(PTEN):c.*10delT http://identifiers.org/clinvar/211034 ^@ NM_005249.4(FOXG1):c.644_645delTCinsCT (p.Phe215Ser) http://identifiers.org/clinvar/189546 ^@ NM_003159.2(CDKL5):c.-253_-163+?del http://identifiers.org/clinvar/189596 ^@ NM_003159.2(CDKL5):c.65-?_99+?del http://identifiers.org/clinvar/189696 ^@ NM_004992.3(MECP2):c.27-4722_*739delins43 http://identifiers.org/clinvar/189646 ^@ NM_004992.3(MECP2):c.1097_*13del378 http://identifiers.org/clinvar/189746 ^@ NM_004992.3(MECP2):c.1093_1095delGAG (p.Glu365del) http://identifiers.org/clinvar/189817 ^@ NM_000751.2(CHRND):c.1204G>A (p.Glu402Lys) http://identifiers.org/clinvar/189980 ^@ NM_001165963.1(SCN1A):c.3017delA (p.Asp1006Valfs) http://identifiers.org/clinvar/189880 ^@ NM_001165963.1(SCN1A):c.1199T>A (p.Met400Lys) http://identifiers.org/clinvar/189930 ^@ NM_001165963.1(SCN1A):c.1055_1056delTG (p.Val352Glufs) http://identifiers.org/clinvar/190030 ^@ NM_001165963.1(SCN1A):c.384_473del90 (p.Leu129_Glu158del) http://identifiers.org/clinvar/190165 ^@ NM_000124.3(ERCC6):c.3177T>C (p.Ser1059=) http://identifiers.org/clinvar/226589 ^@ NM_001277115.1(DNAH11):c.858A>G (p.Glu286=) http://identifiers.org/clinvar/226739 ^@ NM_001018116.2(CAVIN4):c.233C>T (p.Ser78Leu) http://identifiers.org/clinvar/228561 ^@ NM_015404.3(WHRN):c.2029A>G (p.Ile677Val) http://identifiers.org/clinvar/228611 ^@ NM_012144.3(DNAI1):c.645_647delTCCinsCCT (p.Pro216Leu) http://identifiers.org/clinvar/229311 ^@ NM_001170416.1(TJP2):c.68G>C (p.Gly23Ala) http://identifiers.org/clinvar/227671 ^@ NM_017433.4(MYO3A):c.4730+11A>C http://identifiers.org/clinvar/227721 ^@ NM_032578.3(MYPN):c.3591C>A (p.Gly1197=) http://identifiers.org/clinvar/228511 ^@ NM_022124.5(CDH23):c.9883A>C (p.Thr3295Pro) http://identifiers.org/clinvar/228861 ^@ NM_002458.2(MUC5B):c.2068A>G (p.Lys690Glu) http://identifiers.org/clinvar/226889 ^@ NM_001277269.1(OTOG):c.3654C>T (p.Ser1218=) http://identifiers.org/clinvar/226989 ^@ NM_012226.4(P2RX2):c.559-8_559-6delCTT http://identifiers.org/clinvar/229111 ^@ NM_173591.3(OTOGL):c.1369G>T (p.Val457Leu) http://identifiers.org/clinvar/226939 ^@ NM_173591.3(OTOGL):c.3228T>C (p.Thr1076=) http://identifiers.org/clinvar/228911 ^@ NM_000257.3(MYH7):c.4402G>C (p.Glu1468Gln) http://identifiers.org/clinvar/226639 ^@ NM_006329.3(FBLN5):c.620-8T>C http://identifiers.org/clinvar/227571 ^@ NM_001040113.1(MYH11):c.3501C>T (p.Asp1167=) http://identifiers.org/clinvar/228761 ^@ NM_005548.2(KARS):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/228961 ^@ NM_016239.3(MYO15A):c.5870C>A (p.Ser1957Tyr) http://identifiers.org/clinvar/226789 ^@ NM_016239.3(MYO15A):c.8088+5C>G http://identifiers.org/clinvar/229611 ^@ NM_173477.4(USH1G):c.-8C>T http://identifiers.org/clinvar/226489 ^@ NM_017950.3(CCDC40):c.1466G>T (p.Ser489Ile) http://identifiers.org/clinvar/242405 ^@ NM_003803.3(MYOM1):c.65T>G (p.Val22Gly) http://identifiers.org/clinvar/226839 ^@ NM_003803.3(MYOM1):c.-9G>A http://identifiers.org/clinvar/228811 ^@ NM_144612.6(LOXHD1):c.*4G>A http://identifiers.org/clinvar/228661 ^@ NM_207034.2(EDN3):c.208G>A (p.Ala70Thr) http://identifiers.org/clinvar/229361 ^@ NM_001039141.2(TRIOBP):c.5891G>A (p.Arg1964His) http://identifiers.org/clinvar/229261 ^@ NM_014332.2(SMPX):c.182A>G (p.Lys61Arg) http://identifiers.org/clinvar/229011 ^@ NM_000260.3(MYO7A):c.3451C>G (p.Leu1151Val) http://identifiers.org/clinvar/234538 ^@ NM_000179.2(MSH6):c.2963G>A (p.Arg988His) http://identifiers.org/clinvar/234689 ^@ NM_000179.2(MSH6):c.3350G>A (p.Cys1117Tyr) http://identifiers.org/clinvar/234367 ^@ NM_000249.3(MLH1):c.-33T>G http://identifiers.org/clinvar/234589 ^@ NM_000249.3(MLH1):c.169A>C (p.Lys57Gln) http://identifiers.org/clinvar/234739 ^@ NM_001999.3(FBN2):c.3469A>G (p.Met1157Val) http://identifiers.org/clinvar/234890 ^@ NM_006158.4(NEFL):c.1588G>T (p.Val530Phe) http://identifiers.org/clinvar/234639 ^@ NM_000314.6(PTEN):c.-1290C>T http://identifiers.org/clinvar/234316 ^@ NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) http://identifiers.org/clinvar/234487 ^@ NM_000059.3(BRCA2):c.425+2T>C http://identifiers.org/clinvar/234789 ^@ NM_001005360.2(DNM2):c.2365C>G (p.Pro789Ala) http://identifiers.org/clinvar/234840 ^@ NM_007194.3(CHEK2):c.1154G>T (p.Cys385Phe) http://identifiers.org/clinvar/234437 ^@ NM_000052.6(ATP7A):c.3863A>G (p.Gln1288Arg) http://identifiers.org/clinvar/233513 ^@ NM_000251.2(MSH2):c.183G>T (p.Gln61His) http://identifiers.org/clinvar/233113 ^@ NM_000179.2(MSH6):c.853A>T (p.Ser285Cys) http://identifiers.org/clinvar/232963 ^@ NM_000249.3(MLH1):c.-205G>C http://identifiers.org/clinvar/232412 ^@ NM_000038.5(APC):c.2719G>A (p.Gly907Arg) http://identifiers.org/clinvar/264924 ^@ NM_000059.3(BRCA2):c.1909+1200T>C http://identifiers.org/clinvar/264974 ^@ NM_000059.3(BRCA2):c.8633-838_8633-835dup http://identifiers.org/clinvar/265534 ^@ NM_001128425.1(MUTYH):c.1187-32_1199del45 http://identifiers.org/clinvar/265231 ^@ NM_020166.4(MCCC1):c.980C>G (p.Ser327Ter) http://identifiers.org/clinvar/265079 ^@ NM_000094.3(COL7A1):c.7865G>A (p.Arg2622Gln) http://identifiers.org/clinvar/265384 ^@ NM_001182.4(ALDH7A1):c.312+1G>A http://identifiers.org/clinvar/265284 ^@ NM_001069.2(TUBB2A):c.533C>T (p.Thr178Met) http://identifiers.org/clinvar/265180 ^@ NM_000168.5(GLI3):c.241G>A (p.Glu81Lys) http://identifiers.org/clinvar/265129 ^@ NM_000127.2(EXT1):c.1019G>A (p.Arg340His) http://identifiers.org/clinvar/265334 ^@ NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter) http://identifiers.org/clinvar/265484 ^@ NM_000197.1(HSD17B3):c.845C>T (p.Pro282Leu) http://identifiers.org/clinvar/265026 ^@ NM_001613.2(ACTA2):c.535C>T (p.Arg179Cys) http://identifiers.org/clinvar/265585 ^@ NM_000051.3(ATM):c.193C>T (p.Gln65Ter) http://identifiers.org/clinvar/265635 ^@ NM_004360.4(CDH1):c.1320+1G>C http://identifiers.org/clinvar/265685 ^@ NM_004483.4(GCSH):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/265434 ^@ NM_000088.3(COL1A1):c.1405C>T (p.Arg469Ter) http://identifiers.org/clinvar/265770 ^@ NM_005918.3(MDH2):c.620C>T (p.Pro207Leu) http://identifiers.org/clinvar/265924 ^@ NM_174936.3(PCSK9):c.657+76C>A http://identifiers.org/clinvar/265874 ^@ NM_000384.2(APOB):c.403A>G (p.Ile135Val) http://identifiers.org/clinvar/265979 ^@ NM_206933.2(USH2A):c.5516T>A (p.Val1839Glu) http://identifiers.org/clinvar/266030 ^@ NM_022552.4(DNMT3A):c.895A>C (p.Lys299Gln) http://identifiers.org/clinvar/266106 ^@ NM_198428.2(BBS9):c.223C>T (p.Arg75Ter) http://identifiers.org/clinvar/266995 ^@ NM_000059.3(BRCA2):c.723delG (p.Asn243Metfs) http://identifiers.org/clinvar/267145 ^@ NM_000059.3(BRCA2):c.919_920insT (p.Ser307Metfs) http://identifiers.org/clinvar/266945 ^@ NM_000059.3(BRCA2):c.6410delA (p.Asn2137Metfs) http://identifiers.org/clinvar/267045 ^@ NM_000059.3(BRCA2):c.7974C>A (p.Tyr2658Ter) http://identifiers.org/clinvar/267095 ^@ NM_000059.3(BRCA2):c.8518delA (p.Ile2840Tyrfs) http://identifiers.org/clinvar/266356 ^@ NM_007294.3(BRCA1):c.3331delC (p.Gln1111Lysfs) http://identifiers.org/clinvar/266306 ^@ NM_007294.3(BRCA1):c.2823delT (p.Asn941Lysfs) http://identifiers.org/clinvar/266256 ^@ NM_007294.3(BRCA1):c.2387dupC (p.Glu797Argfs) http://identifiers.org/clinvar/266206 ^@ NM_007294.3(BRCA1):c.1953delG (p.Lys654Serfs) http://identifiers.org/clinvar/266156 ^@ NM_007294.3(BRCA1):c.1327_1345del19 (p.Lys443Profs) http://identifiers.org/clinvar/267209 ^@ NM_001655.4(ARCN1):c.260C>A (p.Ser87Ter) http://identifiers.org/clinvar/267268 ^@ NM_022068.3(PIEZO2):c.3655G>A (p.Val1219Met) http://identifiers.org/clinvar/267347 ^@ NM_016035.4(COQ4):c.202G>C (p.Asp68His) http://identifiers.org/clinvar/267416 ^@ NM_017780.3(CHD7):c.1006A>G (p.Asn336Asp) http://identifiers.org/clinvar/267702 ^@ NM_000059.3(BRCA2):c.8633-?_8754+?dup http://identifiers.org/clinvar/267652 ^@ NM_000059.3(BRCA2):c.5616delA (p.Val1873Terfs) http://identifiers.org/clinvar/267602 ^@ NM_007294.3(BRCA1):c.5407-?_5467+?del http://identifiers.org/clinvar/267502 ^@ NM_007294.3(BRCA1):c.135-?_4185+?del http://identifiers.org/clinvar/267552 ^@ NM_007294.3(BRCA1):c.4674delA (p.Glu1559Argfs) http://identifiers.org/clinvar/267781 ^@ NP_006078.2:p.M300I http://identifiers.org/clinvar/267832 ^@ 46;XX;t(1;5)(p31;q33)dn http://identifiers.org/clinvar/267882 ^@ 46;XX;inv(7)(q11.23q36.3)dn http://identifiers.org/clinvar/267932 ^@ 46;XX;t(1;13)(q11.2;p11.2)dn http://identifiers.org/clinvar/267982 ^@ 46;XY;t(10;11)(q24.3;q21) http://identifiers.org/clinvar/268032 ^@ 46;XY;t(2;10)(p15;p14)dn http://identifiers.org/clinvar/268096 ^@ NM_002693.2(POLG):c.924G>T (p.Gln308His) http://identifiers.org/clinvar/268150 ^@ NM_001151.3(SLC25A4):c.707G>C (p.Arg236Pro) http://identifiers.org/clinvar/280409 ^@ NM_002524.4(NRAS):c.182A>C (p.Gln61Pro) http://identifiers.org/clinvar/291035 ^@ NM_001457.3(FLNB):c.6497C>T (p.Thr2166Met) http://identifiers.org/clinvar/291085 ^@ NM_006059.3(LAMC3):c.146A>G (p.Gln49Arg) http://identifiers.org/clinvar/291135 ^@ NM_000052.6(ATP7A):c.2570C>T (p.Pro857Leu) http://identifiers.org/clinvar/291893 ^@ NM_013319.2(UBIAD1):c.*1265T>A http://identifiers.org/clinvar/292043 ^@ NM_138959.2(VANGL1):c.*1772A>G http://identifiers.org/clinvar/291943 ^@ NM_002524.4(NRAS):c.*3366G>T http://identifiers.org/clinvar/293032 ^@ NM_003126.2(SPTA1):c.1691G>A (p.Arg564Gln) http://identifiers.org/clinvar/292982 ^@ NM_003126.2(SPTA1):c.4637A>G (p.His1546Arg) http://identifiers.org/clinvar/293182 ^@ NM_000702.3(ATP1A2):c.*1780G>A http://identifiers.org/clinvar/293582 ^@ NM_000130.4(F5):c.5490G>A (p.Leu1830=) http://identifiers.org/clinvar/293332 ^@ NM_003001.3(SDHC):c.*624A>G http://identifiers.org/clinvar/293632 ^@ NM_000130.4(F5):c.1034G>A (p.Arg345Gln) http://identifiers.org/clinvar/293682 ^@ NM_152281.2(GORAB):c.*1160G>A http://identifiers.org/clinvar/293532 ^@ NM_006996.2(SLC19A2):c.205-14dupT http://identifiers.org/clinvar/293882 ^@ NM_002065.6(GLUL):c.*2644G>C http://identifiers.org/clinvar/292932 ^@ NM_003126.2(SPTA1):c.*127_*132delTGTGTG http://identifiers.org/clinvar/294082 ^@ NM_000433.3(NCF2):c.1084G>A (p.Val362Ile) http://identifiers.org/clinvar/293082 ^@ NM_002241.4(KCNJ10):c.*2596A>G http://identifiers.org/clinvar/293132 ^@ NM_000702.3(ATP1A2):c.1572G>A (p.Glu524=) http://identifiers.org/clinvar/293232 ^@ NM_002857.3(PEX19):c.181-4G>T http://identifiers.org/clinvar/293282 ^@ NM_004550.4(NDUFS2):c.1354+10C>A http://identifiers.org/clinvar/294182 ^@ NM_031935.2(HMCN1):c.7212A>G (p.Val2404=) http://identifiers.org/clinvar/293432 ^@ NM_004431.4(EPHA2):c.1380G>A (p.Pro460=) http://identifiers.org/clinvar/293382 ^@ NM_006182.2(DDR2):c.2253C>T (p.Ile751=) http://identifiers.org/clinvar/293482 ^@ NM_005149.2(TBX19):c.*26C>G http://identifiers.org/clinvar/293782 ^@ NM_022089.3(ATP13A2):c.2331C>T (p.His777=) http://identifiers.org/clinvar/293732 ^@ NM_000639.2(FASLG):c.176C>T (p.Pro59Leu) http://identifiers.org/clinvar/295021 ^@ NM_032409.2(PINK1):c.*538_*541dupAAGT http://identifiers.org/clinvar/293832 ^@ NM_018122.4(DARS2):c.*210T>C http://identifiers.org/clinvar/295071 ^@ NM_000228.2(LAMB3):c.3068G>A (p.Arg1023Gln) http://identifiers.org/clinvar/344213 ^@ NM_031955.5(SPATA16):c.848+15delA http://identifiers.org/clinvar/344313 ^@ NM_020166.4(MCCC1):c.639+13A>G http://identifiers.org/clinvar/344513 ^@ NM_015560.2(OPA1):c.*2391T>C http://identifiers.org/clinvar/344663 ^@ NM_003242.5(TGFBR2):c.1525-10C>G http://identifiers.org/clinvar/344913 ^@ NM_001106.3(ACVR2B):c.210C>T (p.Ile70=) http://identifiers.org/clinvar/345163 ^@ NM_018075.4(ANO10):c.*447G>A http://identifiers.org/clinvar/344363 ^@ NM_005787.5(ALG3):c.19A>C (p.Lys7Gln) http://identifiers.org/clinvar/345413 ^@ NM_020208.3(SLC6A20):c.654C>T (p.His218=) http://identifiers.org/clinvar/336844 ^@ NM_002056.3(GFPT1):c.*1869A>G http://identifiers.org/clinvar/344563 ^@ NM_000461.4(THRB):c.*3915delA http://identifiers.org/clinvar/345463 ^@ NM_024513.3(FYCO1):c.*2060C>A http://identifiers.org/clinvar/336944 ^@ NM_003494.3(DYSF):c.462A>G (p.Thr154=) http://identifiers.org/clinvar/344813 ^@ NM_006371.4(CRTAP):c.1022A>G (p.His341Arg) http://identifiers.org/clinvar/337244 ^@ NM_000821.6(GGCX):c.*470G>A http://identifiers.org/clinvar/337144 ^@ NM_013247.4(HTRA2):c.*513T>A http://identifiers.org/clinvar/345063 ^@ NM_198056.2(SCN5A):c.*1969C>T http://identifiers.org/clinvar/337294 ^@ NM_198843.2(SFTPB):c.*813T>A http://identifiers.org/clinvar/345213 ^@ NM_016006.4(ABHD5):c.-19C>T http://identifiers.org/clinvar/346202 ^@ NM_052859.3(RFT1):c.-1T>C http://identifiers.org/clinvar/337444 ^@ NM_017849.3(TMEM127):c.*3569C>T http://identifiers.org/clinvar/337594 ^@ NM_020184.3(CNNM4):c.2255T>G (p.Val752Gly) http://identifiers.org/clinvar/337494 ^@ NM_017849.3(TMEM127):c.*674dupC http://identifiers.org/clinvar/346302 ^@ NM_001457.3(FLNB):c.792C>T (p.Ile264=) http://identifiers.org/clinvar/345263 ^@ NM_016006.4(ABHD5):c.*2463A>G http://identifiers.org/clinvar/346402 ^@ NM_000925.3(PDHB):c.*99C>T http://identifiers.org/clinvar/342274 ^@ NM_016247.3(IMPG2):c.*4060C>A http://identifiers.org/clinvar/337644 ^@ NM_001298.2(CNGA3):c.-406C>T http://identifiers.org/clinvar/342374 ^@ NM_033084.4(FANCD2):c.3351C>T (p.Tyr1117=) http://identifiers.org/clinvar/342624 ^@ NM_020754.3(ARHGAP31):c.-40G>A http://identifiers.org/clinvar/342574 ^@ NM_198196.2(CD96):c.*1553C>T http://identifiers.org/clinvar/362367 ^@ NM_177924.4(ASAH1):c.*184T>A http://identifiers.org/clinvar/354429 ^@ NM_004385.4(VCAN):c.5615C>T (p.Pro1872Leu) http://identifiers.org/clinvar/354479 ^@ NM_004385.4(VCAN):c.*835G>A http://identifiers.org/clinvar/354529 ^@ NM_002890.2(RASA1):c.3029G>A (p.Arg1010Gln) http://identifiers.org/clinvar/354629 ^@ NM_000439.4(PCSK1):c.*826delA http://identifiers.org/clinvar/354829 ^@ NM_007214.4(SEC63):c.*3171G>C http://identifiers.org/clinvar/354729 ^@ NM_001491.2(GCNT2):c.*1317G>A http://identifiers.org/clinvar/363117 ^@ NM_018105.2(THAP1):c.*297A>G http://identifiers.org/clinvar/354979 ^@ NM_014028.3(OSTM1):c.*177A>G http://identifiers.org/clinvar/354879 ^@ NM_007214.4(SEC63):c.*861A>G http://identifiers.org/clinvar/363367 ^@ NM_017813.4(IMPAD1):c.*2288G>A http://identifiers.org/clinvar/363517 ^@ NM_024596.4(MCPH1):c.114+6A>G http://identifiers.org/clinvar/363567 ^@ NM_024596.4(MCPH1):c.*181C>G http://identifiers.org/clinvar/355130 ^@ NM_001010892.2(RSPH4A):c.*436A>C http://identifiers.org/clinvar/355430 ^@ NM_006208.2(ENPP1):c.*4346T>A http://identifiers.org/clinvar/363767 ^@ NM_018972.2(GDAP1):c.*2737_*2740dupAAAA http://identifiers.org/clinvar/363867 ^@ NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe) http://identifiers.org/clinvar/363967 ^@ NM_018444.3(PDP1):c.*1661delT http://identifiers.org/clinvar/355530 ^@ NM_000288.3(PEX7):c.316G>C (p.Val106Leu) http://identifiers.org/clinvar/360268 ^@ NM_000168.5(GLI3):c.-83C>T http://identifiers.org/clinvar/360468 ^@ NM_005228.4(EGFR):c.3015A>G (p.Glu1005=) http://identifiers.org/clinvar/364806 ^@ NM_000177.4(GSN):c.934G>A (p.Val312Ile) http://identifiers.org/clinvar/360668 ^@ NM_000501.3(ELN):c.*429C>T http://identifiers.org/clinvar/356519 ^@ NM_182548.3(LHFPL5):c.*480_*481insCA http://identifiers.org/clinvar/365206 ^@ NM_014908.3(DOLK):c.-394A>G http://identifiers.org/clinvar/365256 ^@ NM_054012.3(ASS1):c.515C>T (p.Pro172Leu) http://identifiers.org/clinvar/365556 ^@ NM_139025.4(ADAMTS13):c.2732-8C>T http://identifiers.org/clinvar/356969 ^@ NM_006502.2(POLH):c.*2692G>A http://identifiers.org/clinvar/365907 ^@ NM_006412.3(AGPAT2):c.*239G>A http://identifiers.org/clinvar/357169 ^@ NM_012120.2(CD2AP):c.553G>T (p.Ala185Ser) http://identifiers.org/clinvar/357019 ^@ NM_152732.4(RSPH9):c.598A>G (p.Thr200Ala) http://identifiers.org/clinvar/357069 ^@ NM_020745.3(AARS2):c.1569C>T (p.Ser523=) http://identifiers.org/clinvar/303498 ^@ NM_016952.4(CDON):c.2429C>G (p.Ser810Cys) http://identifiers.org/clinvar/303598 ^@ NM_000890.3(KCNJ5):c.-294_-293insGAGA http://identifiers.org/clinvar/367575 ^@ NM_000136.2(FANCC):c.*2085C>A http://identifiers.org/clinvar/303848 ^@ NM_181507.1(HPS5):c.*1023T>G http://identifiers.org/clinvar/304148 ^@ NM_213599.2(ANO5):c.*2274A>G http://identifiers.org/clinvar/367625 ^@ NM_000264.3(PTCH1):c.*2644A>C http://identifiers.org/clinvar/367675 ^@ NM_000264.3(PTCH1):c.1120G>A (p.Glu374Lys) http://identifiers.org/clinvar/364067 ^@ NM_014290.2(TDRD7):c.1445A>G (p.Tyr482Cys) http://identifiers.org/clinvar/312896 ^@ NM_000257.3(MYH7):c.4410G>A (p.Ser1470=) http://identifiers.org/clinvar/304548 ^@ NM_000536.3(RAG2):c.*72T>C http://identifiers.org/clinvar/313246 ^@ NM_002408.3(MGAT2):c.-350C>G http://identifiers.org/clinvar/313346 ^@ NM_001202.5(BMP4):c.*148A>T http://identifiers.org/clinvar/313396 ^@ NM_000161.2(GCH1):c.297C>T (p.Ala99=) http://identifiers.org/clinvar/313696 ^@ NM_000347.5(SPTB):c.*182G>A http://identifiers.org/clinvar/299470 ^@ NM_001081.3(CUBN):c.5131G>A (p.Ala1711Thr) http://identifiers.org/clinvar/313896 ^@ NM_015346.3(ZFYVE26):c.4338A>T (p.Ile1446=) http://identifiers.org/clinvar/299620 ^@ NM_201590.2(CACNB2):c.*2016T>C http://identifiers.org/clinvar/313996 ^@ NM_000021.3(PSEN1):c.*3525A>G http://identifiers.org/clinvar/314096 ^@ NM_031427.3(DNAL1):c.*4809T>A http://identifiers.org/clinvar/300020 ^@ NM_000124.3(ERCC6):c.*755A>G http://identifiers.org/clinvar/305639 ^@ NM_145200.3(CABP4):c.53G>A (p.Arg18His) http://identifiers.org/clinvar/299570 ^@ NM_201590.2(CACNB2):c.*15dupT http://identifiers.org/clinvar/314835 ^@ NM_018319.3(TDP1):c.1317+11G>A http://identifiers.org/clinvar/299670 ^@ NM_017433.4(MYO3A):c.3398+3A>G http://identifiers.org/clinvar/314935 ^@ NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) http://identifiers.org/clinvar/299720 ^@ NM_014915.2(ANKRD26):c.*566G>T http://identifiers.org/clinvar/315035 ^@ NM_000295.4(SERPINA1):c.-98delC http://identifiers.org/clinvar/299770 ^@ NM_014915.2(ANKRD26):c.-138C>G http://identifiers.org/clinvar/315285 ^@ NM_139057.3(ADAMTS17):c.1720C>T (p.Pro574Ser) http://identifiers.org/clinvar/299820 ^@ NM_021252.4(RAB18):c.454G>A (p.Ala152Thr) http://identifiers.org/clinvar/315485 ^@ NM_002420.5(TRPM1):c.*29dupT http://identifiers.org/clinvar/315585 ^@ NM_133647.1(SLC12A6):c.*1568G>A http://identifiers.org/clinvar/315635 ^@ NM_018648.3(NOP10):c.*31C>T http://identifiers.org/clinvar/315735 ^@ NM_152594.2(SPRED1):c.707A>G (p.His236Arg) http://identifiers.org/clinvar/317625 ^@ NM_000875.4(IGF1R):c.*5790delA http://identifiers.org/clinvar/317775 ^@ NM_004862.3(LITAF):c.*193G>A http://identifiers.org/clinvar/317925 ^@ NM_001287.5(CLCN7):c.*797G>T http://identifiers.org/clinvar/318075 ^@ NM_001143979.1(NDE1):c.947+6531C>A http://identifiers.org/clinvar/318127 ^@ NM_001143979.1(NDE1):c.*863C>G http://identifiers.org/clinvar/318277 ^@ NM_003361.3(UMOD):c.*226_*229delCTTA http://identifiers.org/clinvar/318427 ^@ NM_001089.2(ABCA3):c.3195G>A (p.Leu1065=) http://identifiers.org/clinvar/318477 ^@ NM_153603.3(COG7):c.1178A>G (p.His393Arg) http://identifiers.org/clinvar/318527 ^@ NM_001083614.1(EARS2):c.*917C>T http://identifiers.org/clinvar/318727 ^@ NM_001042432.1(CLN3):c.-77+14G>T http://identifiers.org/clinvar/337944 ^@ NM_014588.5(VSX1):c.*749C>T http://identifiers.org/clinvar/337994 ^@ NM_001042472.2(ABHD12):c.543-13T>C http://identifiers.org/clinvar/320017 ^@ NM_020312.3(COQ9):c.*565G>T http://identifiers.org/clinvar/313096 ^@ NM_021914.7(CFL2):c.312-7delT http://identifiers.org/clinvar/313196 ^@ NM_020937.3(FANCM):c.926A>C (p.Glu309Ala) http://identifiers.org/clinvar/320517 ^@ NM_021615.4(CHST6):c.*4470C>T http://identifiers.org/clinvar/313496 ^@ NM_182914.2(SYNE2):c.2646+6A>T http://identifiers.org/clinvar/313546 ^@ NM_182914.2(SYNE2):c.9404A>G (p.Lys3135Arg) http://identifiers.org/clinvar/321217 ^@ NM_000303.2(PMM2):c.447+4C>T http://identifiers.org/clinvar/321067 ^@ NM_001127464.2(ZNF469):c.*1348G>A http://identifiers.org/clinvar/313796 ^@ NM_002382.4(MAX):c.*942C>T http://identifiers.org/clinvar/321167 ^@ NM_000485.2(APRT):c.90G>T (p.Ser30=) http://identifiers.org/clinvar/313846 ^@ NM_152443.2(RDH12):c.*155C>T http://identifiers.org/clinvar/321317 ^@ NM_000135.2(FANCA):c.*385C>G http://identifiers.org/clinvar/339934 ^@ NM_000411.6(HLCS):c.*1756C>T http://identifiers.org/clinvar/314046 ^@ NM_031427.3(DNAL1):c.*1824G>A http://identifiers.org/clinvar/340184 ^@ NM_000211.4(ITGB2):c.28G>A (p.Ala10Thr) http://identifiers.org/clinvar/340334 ^@ NM_001848.2(COL6A1):c.*182A>G http://identifiers.org/clinvar/328258 ^@ NM_000528.3(MAN2B1):c.2562C>G (p.Ala854=) http://identifiers.org/clinvar/326419 ^@ NM_177986.4(DSG4):c.259A>C (p.Ile87Leu) http://identifiers.org/clinvar/326519 ^@ NM_001943.4(DSG2):c.*944delA http://identifiers.org/clinvar/342224 ^@ NM_000487.5(ARSA):c.*625G>A http://identifiers.org/clinvar/328408 ^@ NM_000435.2(NOTCH3):c.1760G>A (p.Arg587His) http://identifiers.org/clinvar/367725 ^@ NM_080632.2(UPF3B):c.*618G>A http://identifiers.org/clinvar/326769 ^@ NM_015559.2(SETBP1):c.*919A>G http://identifiers.org/clinvar/328558 ^@ NM_000453.2(SLC5A5):c.*277T>C http://identifiers.org/clinvar/326919 ^@ NM_017653.3(DYM):c.-309G>C http://identifiers.org/clinvar/367875 ^@ NM_002351.4(SH2D1A):c.*203delA http://identifiers.org/clinvar/367925 ^@ NM_004840.2(ARHGEF6):c.*1817dupT http://identifiers.org/clinvar/367975 ^@ NM_001011658.3(TRAPPC2):c.*957_*958insTTTTTTT http://identifiers.org/clinvar/328708 ^@ NM_001031726.3(C19orf12):c.*1114C>G http://identifiers.org/clinvar/328758 ^@ NM_014270.4(SLC7A9):c.522C>T (p.Ser174=) http://identifiers.org/clinvar/368525 ^@ NM_000084.4(CLCN5):c.*5349delA http://identifiers.org/clinvar/327908 ^@ NM_001130823.2(DNMT1):c.1932C>T (p.Phe644=) http://identifiers.org/clinvar/328308 ^@ NM_006563.4(KLF1):c.*277C>T http://identifiers.org/clinvar/328358 ^@ NM_000435.2(NOTCH3):c.*845G>T http://identifiers.org/clinvar/328458 ^@ NM_173483.3(CYP4F22):c.*450C>A http://identifiers.org/clinvar/328658 ^@ NM_001031726.3(C19orf12):c.*3492G>T http://identifiers.org/clinvar/330597 ^@ NM_030957.3(ADAMTS10):c.1900+11G>C http://identifiers.org/clinvar/337694 ^@ NM_018848.3(MKKS):c.-21C>G http://identifiers.org/clinvar/328808 ^@ NM_000285.3(PEPD):c.744T>C (p.Gly248=) http://identifiers.org/clinvar/328858 ^@ NM_004646.3(NPHS1):c.3166+14C>A http://identifiers.org/clinvar/337844 ^@ NM_024411.4(PDYN):c.-286G>C http://identifiers.org/clinvar/328958 ^@ NM_032753.3(RAX2):c.*679C>T http://identifiers.org/clinvar/337894 ^@ NM_000361.2(THBD):c.40G>A (p.Gly14Ser) http://identifiers.org/clinvar/329058 ^@ NM_000540.2(RYR1):c.7053T>C (p.Asn2351=) http://identifiers.org/clinvar/339034 ^@ NM_001001433.2(STX16):c.-534C>G http://identifiers.org/clinvar/339584 ^@ NM_000933.3(PLCB4):c.2822C>A (p.Ser941Tyr) http://identifiers.org/clinvar/339634 ^@ NM_000484.3(APP):c.1664C>T (p.Ala555Val) http://identifiers.org/clinvar/339684 ^@ NM_178817.3(MRAP):c.446A>G (p.Asn149Ser) http://identifiers.org/clinvar/330547 ^@ NM_006949.3(STXBP2):c.321C>T (p.Thr107=) http://identifiers.org/clinvar/340034 ^@ NM_020639.2(RIPK4):c.271C>A (p.Pro91Thr) http://identifiers.org/clinvar/340084 ^@ NM_000071.2(CBS):c.924C>T (p.Tyr308=) http://identifiers.org/clinvar/340234 ^@ NM_130445.3(COL18A1):c.2032-6C>T http://identifiers.org/clinvar/340434 ^@ NM_006657.2(FTCD):c.571G>A (p.Gly191Ser) http://identifiers.org/clinvar/340635 ^@ NM_014339.6(IL17RA):c.*1067G>A http://identifiers.org/clinvar/340685 ^@ NM_014339.6(IL17RA):c.*3383_*3384delTT http://identifiers.org/clinvar/338884 ^@ NM_002591.3(PCK1):c.873C>T (p.Thr291=) http://identifiers.org/clinvar/339434 ^@ NM_025219.2(DNAJC5):c.*3995A>G http://identifiers.org/clinvar/339534 ^@ NM_015192.3(PLCB1):c.*1409A>G http://identifiers.org/clinvar/341524 ^@ NM_002473.5(MYH9):c.1899C>T (p.Pro633=) http://identifiers.org/clinvar/339734 ^@ NM_000219.5(KCNE1):c.*2000C>T http://identifiers.org/clinvar/339834 ^@ NM_001754.4(RUNX1):c.*2320T>G http://identifiers.org/clinvar/339884 ^@ NM_144492.2(CLDN14):c.*107G>A http://identifiers.org/clinvar/339984 ^@ NM_000411.6(HLCS):c.-471A>G http://identifiers.org/clinvar/382984 ^@ NM_001080449.2(DNA2):c.295T>C (p.Leu99=) http://identifiers.org/clinvar/383836 ^@ NM_000077.4(CDKN2A):c.-19550G>A http://identifiers.org/clinvar/391714 ^@ NM_000051.3(ATM):c.3077+13T>A http://identifiers.org/clinvar/385426 ^@ NM_024740.2(ALG9):c.790-11C>T http://identifiers.org/clinvar/383585 ^@ NM_016042.3(EXOSC3):c.430T>C (p.Leu144=) http://identifiers.org/clinvar/385976 ^@ NM_001003800.1(BICD2):c.1806G>A (p.Thr602=) http://identifiers.org/clinvar/383535 ^@ NM_004183.3(BEST1):c.1344G>A (p.Lys448=) http://identifiers.org/clinvar/380089 ^@ NM_024678.5(NARS2):c.899A>G (p.Lys300Arg) http://identifiers.org/clinvar/392214 ^@ NM_030962.3(SBF2):c.993G>A (p.Leu331=) http://identifiers.org/clinvar/379788 ^@ NM_000277.1(PAH):c.901C>A (p.Gln301Lys) http://identifiers.org/clinvar/379538 ^@ NM_000314.6(PTEN):c.253+14T>A http://identifiers.org/clinvar/382182 ^@ NM_000051.3(ATM):c.6099A>G (p.Leu2033=) http://identifiers.org/clinvar/382333 ^@ NM_006231.3(POLE):c.6136+20T>A http://identifiers.org/clinvar/383936 ^@ NM_000051.3(ATM):c.8787-15T>C http://identifiers.org/clinvar/386426 ^@ NM_152416.3(NDUFAF6):c.478-4G>T http://identifiers.org/clinvar/389675 ^@ NM_000051.3(ATM):c.2505A>G (p.Val835=) http://identifiers.org/clinvar/383736 ^@ NM_014754.2(PTDSS1):c.421A>G (p.Thr141Ala) http://identifiers.org/clinvar/378241 ^@ NM_005002.4(NDUFA9):c.588G>A (p.Pro196=) http://identifiers.org/clinvar/378191 ^@ NM_000256.3(MYBPC3):c.851+18C>T http://identifiers.org/clinvar/386076 ^@ NM_001876.3(CPT1A):c.693C>T (p.Tyr231=) http://identifiers.org/clinvar/379438 ^@ NM_032790.3(ORAI1):c.786T>C (p.Val262=) http://identifiers.org/clinvar/392014 ^@ NM_020822.2(KCNT1):c.1620-16C>G http://identifiers.org/clinvar/391364 ^@ NM_000059.3(BRCA2):c.1533A>G (p.Ser511=) http://identifiers.org/clinvar/377539 ^@ NM_000053.3(ATP7B):c.3243+5G>A http://identifiers.org/clinvar/381982 ^@ NM_000719.6(CACNA1C):c.3087C>A (p.Ile1029=) http://identifiers.org/clinvar/382834 ^@ NM_006231.3(POLE):c.2178C>T (p.Tyr726=) http://identifiers.org/clinvar/377839 ^@ NM_000136.2(FANCC):c.456+20C>T http://identifiers.org/clinvar/393253 ^@ NM_003276.2(TMPO):c.1229A>G (p.Lys410Arg) http://identifiers.org/clinvar/389725 ^@ NM_024537.3(CARS2):c.1608C>T (p.His536=) http://identifiers.org/clinvar/382784 ^@ NM_024537.3(CARS2):c.1417-17C>T http://identifiers.org/clinvar/382032 ^@ NM_002755.3(MAP2K1):c.693+4T>G http://identifiers.org/clinvar/386276 ^@ NM_194279.3(ISCA2):c.-6A>C http://identifiers.org/clinvar/382634 ^@ NM_001909.4(CTSD):c.*4C>G http://identifiers.org/clinvar/392364 ^@ NM_000138.4(FBN1):c.2945G>C (p.Cys982Ser) http://identifiers.org/clinvar/383635 ^@ NM_024678.5(NARS2):c.-32C>T http://identifiers.org/clinvar/379488 ^@ NM_133647.1(SLC12A6):c.1164C>T (p.Asp388=) http://identifiers.org/clinvar/379738 ^@ NM_021098.2(CACNA1H):c.2708G>A (p.Arg903His) http://identifiers.org/clinvar/391664 ^@ NM_012213.2(MLYCD):c.-36G>T http://identifiers.org/clinvar/47441 ^@ NM_001256850.1(TTN):c.80000A>C (p.Gln26667Pro) http://identifiers.org/clinvar/47491 ^@ NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) http://identifiers.org/clinvar/47541 ^@ NM_001256850.1(TTN):c.89700C>T (p.Tyr29900=) http://identifiers.org/clinvar/47591 ^@ NM_133378.4(TTN):c.90155C>T (p.Ala30052Val) http://identifiers.org/clinvar/47641 ^@ TTN:c.101766G>C (p.Gln33922His) http://identifiers.org/clinvar/47691 ^@ NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) http://identifiers.org/clinvar/47741 ^@ NM_133379.4(TTN):c.11849T>C (p.Ile3950Thr) http://identifiers.org/clinvar/47791 ^@ NM_001256850.1(TTN):c.10361-4498G>A http://identifiers.org/clinvar/47841 ^@ NM_133432.3(TTN):c.13145G>A (p.Gly4382Asp) http://identifiers.org/clinvar/47891 ^@ NM_144573.3(NEXN):c.1453G>A (p.Glu485Lys) http://identifiers.org/clinvar/47941 ^@ NM_144612.6(LOXHD1):c.4868A>G (p.Glu1623Gly) http://identifiers.org/clinvar/47992 ^@ NM_153676.3(USH1C):c.2184+12C>T http://identifiers.org/clinvar/48293 ^@ NM_198056.2(SCN5A):c.1967C>T (p.Pro656Leu) http://identifiers.org/clinvar/48344 ^@ NM_206933.2(USH2A):c.10232A>C (p.Glu3411Ala) http://identifiers.org/clinvar/104 ^@ NM_001029883.2(C2orf71):c.556C>T (p.Gln186Ter) http://identifiers.org/clinvar/776 ^@ NM_198488.3(FAM83H):c.1408C>T (p.Gln470Ter) http://identifiers.org/clinvar/785 ^@ NM_052859.3(RFT1):c.199C>T (p.Arg67Cys) http://identifiers.org/clinvar/849 ^@ NM_014706.3(SART3):c.1771G>A (p.Val591Met) http://identifiers.org/clinvar/917 ^@ CA2, IVS5AS, G-C, -1 http://identifiers.org/clinvar/1008 ^@ NM_001031710.2(KLHL7):c.449G>A (p.Ser150Asn) http://identifiers.org/clinvar/1017 ^@ NM_139241.3(FGD4):c.1762-2A>G http://identifiers.org/clinvar/1026 ^@ NM_020223.3(FAM20C):c.957-3C>G http://identifiers.org/clinvar/1035 ^@ NM_015559.2(SETBP1):c.2608G>A (p.Gly870Ser) http://identifiers.org/clinvar/1492 ^@ NM_001039141.2(TRIOBP):c.889C>T (p.Gln297Ter) http://identifiers.org/clinvar/10214 ^@ NM_000132.3(F8):c.1417T>C (p.Tyr473His) http://identifiers.org/clinvar/10304 ^@ NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) http://identifiers.org/clinvar/10447 ^@ GJB1, 21-BP DUP http://identifiers.org/clinvar/10495 ^@ NM_000202.7(IDS):c.1425G>A (p.Trp475Ter) http://identifiers.org/clinvar/10540 ^@ PHKA2, 6-BP INS, NT3331 http://identifiers.org/clinvar/10586 ^@ F9, IVS7AS, G-A http://identifiers.org/clinvar/10630 ^@ F9, EX1-8DEL http://identifiers.org/clinvar/10677 ^@ NM_031407.6(HUWE1):c.8942G>A (p.Arg2981His) http://identifiers.org/clinvar/10721 ^@ NM_000169.2(GLA):c.835C>G (p.Gln279Glu) http://identifiers.org/clinvar/10767 ^@ NM_000169.2(GLA):c.1095T>A (p.Tyr365Ter) http://identifiers.org/clinvar/10811 ^@ NM_033290.3(MID1):c.884T>C (p.Leu295Pro) http://identifiers.org/clinvar/10857 ^@ NM_000276.3(OCRL):c.2530C>T (p.Arg844Ter) http://identifiers.org/clinvar/10902 ^@ SH2D1A, IVS2AS, G-T, -1 http://identifiers.org/clinvar/11411 ^@ FOXP3, 2-BP DEL, 1481CT http://identifiers.org/clinvar/11461 ^@ NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter) http://identifiers.org/clinvar/11513 ^@ NM_001011658.3(TRAPPC2):c.248T>C (p.Phe83Ser) http://identifiers.org/clinvar/11563 ^@ FHL1, 9-BP DEL, NT451 http://identifiers.org/clinvar/11613 ^@ NM_005491.4(MAMLD1):c.2176C>T (p.Arg726Ter) http://identifiers.org/clinvar/11663 ^@ RPS6KA3, 1-BP DEL, 2144C http://identifiers.org/clinvar/11714 ^@ NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) http://identifiers.org/clinvar/11765 ^@ NM_001110556.1(FLNA):c.116C>G (p.Ala39Gly) http://identifiers.org/clinvar/11816 ^@ MECP2, IVS2, A-G, -2 http://identifiers.org/clinvar/11866 ^@ NM_000137.2(FAH):c.401C>A (p.Ala134Asp) http://identifiers.org/clinvar/11916 ^@ NM_000203.4(IDUA):c.1096A>C (p.Thr366Pro) http://identifiers.org/clinvar/11966 ^@ NM_000108.4(DLD):c.685G>T (p.Gly229Cys) http://identifiers.org/clinvar/12018 ^@ NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys) http://identifiers.org/clinvar/12068 ^@ F7, CYS310PHE http://identifiers.org/clinvar/12118 ^@ NM_000204.4(CFI):c.1253A>T (p.His418Leu) http://identifiers.org/clinvar/12171 ^@ NM_000500.7(CYP21A2):c.1217G>A (p.Trp406Ter) http://identifiers.org/clinvar/12223 ^@ NM_001025366.2(VEGFA):c.-94C>G http://identifiers.org/clinvar/36916 ^@ NM_001849.3(COL6A2):c.1855_1860delGTCATC (p.Val619_Ile620del) http://identifiers.org/clinvar/37492 ^@ NM_007294.3(BRCA1):c.2864_2865insT (p.Ser956Ilefs) http://identifiers.org/clinvar/37550 ^@ NM_007294.3(BRCA1):c.3825dupA (p.Leu1276Ilefs) http://identifiers.org/clinvar/37603 ^@ NM_007294.3(BRCA1):c.4675+7T>C http://identifiers.org/clinvar/37658 ^@ NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) http://identifiers.org/clinvar/37713 ^@ NM_007294.3(BRCA1):c.988G>A (p.Asp330Asn) http://identifiers.org/clinvar/37764 ^@ NM_000059.3(BRCA2):c.1832C>A (p.Ser611Ter) http://identifiers.org/clinvar/37817 ^@ NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) http://identifiers.org/clinvar/37869 ^@ NM_000059.3(BRCA2):c.396T>A (p.Cys132Ter) http://identifiers.org/clinvar/37922 ^@ NM_000059.3(BRCA2):c.476-1G>A http://identifiers.org/clinvar/37976 ^@ NM_000059.3(BRCA2):c.5577delT (p.Val1862Terfs) http://identifiers.org/clinvar/38027 ^@ NM_000059.3(BRCA2):c.6215C>G (p.Ser2072Cys) http://identifiers.org/clinvar/38081 ^@ NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) http://identifiers.org/clinvar/38131 ^@ NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) http://identifiers.org/clinvar/38181 ^@ NM_000059.3(BRCA2):c.8754+2T>G http://identifiers.org/clinvar/38231 ^@ NM_000059.3(BRCA2):c.9320T>C (p.Ile3107Thr) http://identifiers.org/clinvar/38288 ^@ NM_000155.3(GALT):c.998G>A (p.Arg333Gln) http://identifiers.org/clinvar/38487 ^@ NM_000060.4(BTD):c.184G>A (p.Val62Met) http://identifiers.org/clinvar/38348 ^@ NM_002437.4(MPV17):c.206G>A (p.Trp69Ter) http://identifiers.org/clinvar/38404 ^@ NM_014252.3(SLC25A15):c.847C>T (p.Leu283Phe) http://identifiers.org/clinvar/38726 ^@ NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) http://identifiers.org/clinvar/38783 ^@ NM_000495.4(COL4A5):c.4280G>C (p.Gly1427Ala) http://identifiers.org/clinvar/38907 ^@ NM_001039958.1(MESP2):c.241G>T (p.Gly81Ter) http://identifiers.org/clinvar/38957 ^@ NM_001363.4(DKC1):c.949C>T (p.Leu317Phe) http://identifiers.org/clinvar/39009 ^@ NM_016938.4(EFEMP2):c.1189G>A (p.Ala397Thr) http://identifiers.org/clinvar/39059 ^@ NM_024312.4(GNPTAB):c.2715+2T>G http://identifiers.org/clinvar/39114 ^@ NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) http://identifiers.org/clinvar/39166 ^@ NM_198578.3(LRRK2):c.3494T>C (p.Leu1165Pro) http://identifiers.org/clinvar/39216 ^@ NM_198578.3(LRRK2):c.5822G>A (p.Arg1941His) http://identifiers.org/clinvar/39267 ^@ NM_207352.3(CYP4V2):c.64C>G (p.Leu22Val) http://identifiers.org/clinvar/39428 ^@ USH1C, IVS16AS, G-T, -1 http://identifiers.org/clinvar/39480 ^@ NM_001567.3(INPPL1):c.2164T>A (p.Phe722Ile) http://identifiers.org/clinvar/242675 ^@ NM_003977.3(AIP):c.-125-145_-125-144delCGinsAA http://identifiers.org/clinvar/52554 ^@ NM_000059.3(BRCA2):c.8332-64A>G http://identifiers.org/clinvar/52604 ^@ NM_000059.3(BRCA2):c.8487+4T>C http://identifiers.org/clinvar/52656 ^@ NM_000059.3(BRCA2):c.8673_8674delAA (p.Arg2892Thrfs) http://identifiers.org/clinvar/52706 ^@ NM_000059.3(BRCA2):c.8946delA (p.Asp2983Ilefs) http://identifiers.org/clinvar/52757 ^@ NM_000059.3(BRCA2):c.9117+9C>T http://identifiers.org/clinvar/52808 ^@ NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter) http://identifiers.org/clinvar/52859 ^@ NM_000059.3(BRCA2):c.9502-71G>T http://identifiers.org/clinvar/52909 ^@ NM_000059.3(BRCA2):c.9868delG (p.Val3290Phefs) http://identifiers.org/clinvar/52959 ^@ NM_000218.2(KCNQ1):c.1111G>A (p.Ala371Thr) http://identifiers.org/clinvar/53009 ^@ NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) http://identifiers.org/clinvar/53059 ^@ NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) http://identifiers.org/clinvar/53109 ^@ NM_000218.2(KCNQ1):c.815G>A (p.Gly272Asp) http://identifiers.org/clinvar/53161 ^@ NM_000492.3(CFTR):c.1006_1007insG (p.Ile336Serfs) http://identifiers.org/clinvar/53213 ^@ NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter) http://identifiers.org/clinvar/53265 ^@ NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter) http://identifiers.org/clinvar/53316 ^@ NM_000492.3(CFTR):c.165-3C>A http://identifiers.org/clinvar/53366 ^@ NM_000492.3(CFTR):c.1738delG (p.Val580Phefs) http://identifiers.org/clinvar/53416 ^@ NM_000492.3(CFTR):c.1966G>T (p.Glu656Ter) http://identifiers.org/clinvar/53469 ^@ NM_000492.3(CFTR):c.2286G>T (p.Gln762His) http://identifiers.org/clinvar/53521 ^@ NM_000492.3(CFTR):c.2600T>A (p.Leu867Ter) http://identifiers.org/clinvar/53571 ^@ NM_000492.3(CFTR):c.2808A>G (p.Pro936=) http://identifiers.org/clinvar/53622 ^@ NM_000492.3(CFTR):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/53674 ^@ NM_000492.3(CFTR):c.3189G>A (p.Trp1063Ter) http://identifiers.org/clinvar/53724 ^@ NM_000492.3(CFTR):c.3367+2T>C http://identifiers.org/clinvar/53775 ^@ NM_000492.3(CFTR):c.3592delG (p.Val1198Terfs) http://identifiers.org/clinvar/53827 ^@ NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) http://identifiers.org/clinvar/53879 ^@ NM_000492.3(CFTR):c.4042delC (p.His1348Metfs) http://identifiers.org/clinvar/53930 ^@ NM_000492.3(CFTR):c.4242+1G>T http://identifiers.org/clinvar/54573 ^@ NM_007294.3(BRCA1):c.2450delG (p.Gly817Valfs) http://identifiers.org/clinvar/54623 ^@ NM_007294.3(BRCA1):c.2632G>A (p.Ala878Thr) http://identifiers.org/clinvar/54673 ^@ NM_007294.3(BRCA1):c.2761C>T (p.Gln921Ter) http://identifiers.org/clinvar/54723 ^@ NM_007294.3(BRCA1):c.2929_2930dupCC (p.Tyr978Hisfs) http://identifiers.org/clinvar/54773 ^@ NM_007294.3(BRCA1):c.3122C>G (p.Ser1041Ter) http://identifiers.org/clinvar/54823 ^@ NM_007294.3(BRCA1):c.3292_3293delCT (p.Leu1098Serfs) http://identifiers.org/clinvar/54873 ^@ NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile) http://identifiers.org/clinvar/54923 ^@ NM_007294.3(BRCA1):c.3583delC (p.His1195Ilefs) http://identifiers.org/clinvar/55026 ^@ NM_007294.3(BRCA1):c.3844delG (p.Glu1282Asnfs) http://identifiers.org/clinvar/55076 ^@ NM_007294.3(BRCA1):c.4026A>G (p.Ser1342=) http://identifiers.org/clinvar/55127 ^@ NM_007294.3(BRCA1):c.4184A>G (p.Gln1395Arg) http://identifiers.org/clinvar/55178 ^@ NM_007294.3(BRCA1):c.4357+1G>T http://identifiers.org/clinvar/55229 ^@ NM_007294.3(BRCA1):c.4574_4575delAA (p.Gln1525Argfs) http://identifiers.org/clinvar/55279 ^@ NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser) http://identifiers.org/clinvar/55330 ^@ NM_007294.3(BRCA1):c.4952C>T (p.Ser1651Phe) http://identifiers.org/clinvar/55380 ^@ NM_007294.3(BRCA1):c.5075-2A>T http://identifiers.org/clinvar/55430 ^@ NM_007294.3(BRCA1):c.5153-1G>T http://identifiers.org/clinvar/55480 ^@ NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) http://identifiers.org/clinvar/55533 ^@ NM_007294.3(BRCA1):c.5333-1G>A http://identifiers.org/clinvar/55583 ^@ NM_007294.3(BRCA1):c.5449G>T (p.Glu1817Ter) http://identifiers.org/clinvar/55633 ^@ NM_007294.3(BRCA1):c.556T>G (p.Ser186Ala) http://identifiers.org/clinvar/55686 ^@ NM_007294.3(BRCA1):c.742dupA (p.Thr248Asnfs) http://identifiers.org/clinvar/55737 ^@ NM_007294.3(BRCA1):c.848T>G (p.Leu283Ter) http://identifiers.org/clinvar/55799 ^@ NM_002834.4(PTPN11):c.1517_1518delAGinsCC (p.Gln506Pro) http://identifiers.org/clinvar/55868 ^@ NM_006012.2(CLPP):c.433A>C (p.Thr145Pro) http://identifiers.org/clinvar/55944 ^@ NM_000027.3(AGA):c.373_376delACAC (p.Thr125Phefs) http://identifiers.org/clinvar/55995 ^@ NM_000111.2(SLC26A3):c.332delT (p.Phe111Serfs) http://identifiers.org/clinvar/56048 ^@ NM_000170.2(GLDC):c.1654A>G (p.Met552Val) http://identifiers.org/clinvar/56099 ^@ NM_000170.2(GLDC):c.513G>C (p.Gly171=) http://identifiers.org/clinvar/56357 ^@ NM_001126105.2(SLC7A7):c.1381_1384dupATCA (p.Arg462Asnfs) http://identifiers.org/clinvar/56409 ^@ NM_004260.3(RECQL4):c.3271C>T (p.Gln1091Ter) http://identifiers.org/clinvar/56459 ^@ NM_004646.3(NPHS1):c.2043G>T (p.Trp681Cys) http://identifiers.org/clinvar/56509 ^@ NM_004646.3(NPHS1):c.515_517delCCA (p.Thr172del) http://identifiers.org/clinvar/56560 ^@ NM_012434.4(SLC17A5):c.983G>A (p.Gly328Glu) http://identifiers.org/clinvar/101355 ^@ NM_000090.3(COL3A1):c.2212G>T (p.Gly738Cys) http://identifiers.org/clinvar/101405 ^@ NP_000081.1:p.Gly762_Glu1175del http://identifiers.org/clinvar/101455 ^@ NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser) http://identifiers.org/clinvar/101507 ^@ NG_031909.1:g.(12232_26209)_(29173_47048)del http://identifiers.org/clinvar/102468 ^@ NM_000277.1(PAH):c.1012G>T (p.Asp338Tyr) http://identifiers.org/clinvar/102522 ^@ NM_000277.1(PAH):c.1099dupC (p.Leu367Profs) http://identifiers.org/clinvar/102576 ^@ NM_000277.1(PAH):c.1237C>T (p.Arg413Cys) http://identifiers.org/clinvar/102628 ^@ NM_000277.1(PAH):c.205C>T (p.Pro69Ser) http://identifiers.org/clinvar/102683 ^@ NM_000277.1(PAH):c.452A>G (p.Asp151Gly) http://identifiers.org/clinvar/102733 ^@ NM_000277.1(PAH):c.556delA (p.Thr186Hisfs) http://identifiers.org/clinvar/102784 ^@ NM_000277.1(PAH):c.688G>A (p.Val230Ile) http://identifiers.org/clinvar/102834 ^@ NM_000277.1(PAH):c.791A>T (p.His264Leu) http://identifiers.org/clinvar/102886 ^@ NM_000277.1(PAH):c.895_897delTTT (p.Phe299del) http://identifiers.org/clinvar/102944 ^@ NM_001282358.1(NLRX1):c.-462G>A http://identifiers.org/clinvar/102994 ^@ NM_000246.3(CIITA):c.1684G>A (p.Ala562Thr) http://identifiers.org/clinvar/103044 ^@ NM_001079821.2(NLRP3):c.403+42T>C http://identifiers.org/clinvar/103094 ^@ NM_006092.2(NOD1):c.2201+36C>T http://identifiers.org/clinvar/103144 ^@ NM_024618.3(NLRX1):c.2579G>A (p.Arg860Gln) http://identifiers.org/clinvar/103194 ^@ NM_032206.4(NLRC5):c.4322+98A>G http://identifiers.org/clinvar/103244 ^@ NM_138329.2(NLRP6):c.2662C>G (p.Leu888Val) http://identifiers.org/clinvar/103294 ^@ NM_153447.4(NLRP5):c.565+114G>T http://identifiers.org/clinvar/103344 ^@ NM_176822.3(NLRP14):c.2066C>G (p.Ala689Gly) http://identifiers.org/clinvar/111218 ^@ NM_000416.2(IFNGR1):c.85+18A>C http://identifiers.org/clinvar/111268 ^@ NM_003264.4(TLR2):c.265A>G (p.Asn89Asp) http://identifiers.org/clinvar/120230 ^@ NM_017637.5(BNC2):c.171G>T (p.Gln57His) http://identifiers.org/clinvar/120280 ^@ NM_000277.1(PAH):c.591G>C (p.Leu197Phe) http://identifiers.org/clinvar/125437 ^@ NM_033419.4(PGAP3):c.275G>A (p.Gly92Asp) http://identifiers.org/clinvar/125500 ^@ NM_007294.3(BRCA1):c.1440_1441insA (p.Leu481Thrfs) http://identifiers.org/clinvar/125570 ^@ NM_007294.3(BRCA1):c.139dupT (p.Cys47Leufs) http://identifiers.org/clinvar/125721 ^@ NM_007294.3(BRCA1):c.4675+31C>G http://identifiers.org/clinvar/126180 ^@ Q2829Q http://identifiers.org/clinvar/127281 ^@ NM_000038.5(APC):c.2413C>T (p.Arg805Ter) http://identifiers.org/clinvar/127331 ^@ NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn) http://identifiers.org/clinvar/127381 ^@ NM_000051.3(ATM):c.4087A>G (p.Thr1363Ala) http://identifiers.org/clinvar/127431 ^@ NM_000051.3(ATM):c.6974C>T (p.Ala2325Val) http://identifiers.org/clinvar/127482 ^@ NM_000057.3(BLM):c.2119C>T (p.Pro707Ser) http://identifiers.org/clinvar/127532 ^@ NM_000136.2(FANCC):c.1374A>C (p.Arg458Ser) http://identifiers.org/clinvar/127582 ^@ NM_000179.2(MSH6):c.3232G>C (p.Val1078Leu) http://identifiers.org/clinvar/127633 ^@ NM_000251.2(MSH2):c.1709A>G (p.Tyr570Cys) http://identifiers.org/clinvar/127692 ^@ NM_000314.6(PTEN):c.79+7A>G http://identifiers.org/clinvar/127742 ^@ NM_000465.3(BARD1):c.623dupA (p.Lys209Glufs) http://identifiers.org/clinvar/127793 ^@ NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) http://identifiers.org/clinvar/159481 ^@ NM_002547.2(OPHN1):c.903G>C (p.Thr301=) http://identifiers.org/clinvar/160356 ^@ NM_003937.2(KYNU):c.563G>A (p.Arg188Gln) http://identifiers.org/clinvar/160812 ^@ GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3 http://identifiers.org/clinvar/160863 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 http://identifiers.org/clinvar/160915 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x1 http://identifiers.org/clinvar/160967 ^@ GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 http://identifiers.org/clinvar/161018 ^@ GRCh38/hg38 16p12.2(chr16:21463739-21826230)x1 http://identifiers.org/clinvar/161068 ^@ GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 http://identifiers.org/clinvar/161118 ^@ NM_015506.2(MMACHC):c.276G>A (p.Glu92=) http://identifiers.org/clinvar/161198 ^@ NC_000009.12:g.136545168_136630028del84861 http://identifiers.org/clinvar/161250 ^@ NM_000190.3(HMBS):c.962G>A (p.Arg321His) http://identifiers.org/clinvar/161719 ^@ NM_018557.2(LRP1B):c.10187G>C (p.Cys3396Ser) http://identifiers.org/clinvar/161669 ^@ NM_013398.3(ZNF224):c.1354G>A (p.Gly452Arg) http://identifiers.org/clinvar/178119 ^@ NM_001035.2(RYR2):c.3567A>G (p.Glu1189=) http://identifiers.org/clinvar/163412 ^@ NM_031475.2(ESPN):c.1048C>T (p.Pro350Ser) http://identifiers.org/clinvar/179277 ^@ NM_144573.3(NEXN):c.1528A>G (p.Lys510Glu) http://identifiers.org/clinvar/177968 ^@ NM_001256850.1(TTN):c.100289C>G (p.Ser33430Cys) http://identifiers.org/clinvar/179677 ^@ NM_133378.4(TTN):c.92553T>C (p.Asp30851=) http://identifiers.org/clinvar/179477 ^@ NM_133378.4(TTN):c.88795T>C (p.Ser29599Pro) http://identifiers.org/clinvar/165891 ^@ NM_133378.4(TTN):c.58042C>T (p.Arg19348Trp) http://identifiers.org/clinvar/180027 ^@ NM_133378.4(TTN):c.54940A>G (p.Thr18314Ala) http://identifiers.org/clinvar/178977 ^@ NM_206933.2(USH2A):c.11822G>A (p.Arg3941Gln) http://identifiers.org/clinvar/178169 ^@ NM_001256850.1(TTN):c.87773T>C (p.Ile29258Thr) http://identifiers.org/clinvar/165765 ^@ NM_133378.4(TTN):c.80602+1G>C http://identifiers.org/clinvar/179577 ^@ NM_001256850.1(TTN):c.23569G>A (p.Val7857Met) http://identifiers.org/clinvar/179377 ^@ NM_005633.3(SOS1):c.588A>T (p.Ser196=) http://identifiers.org/clinvar/164841 ^@ NM_194248.2(OTOF):c.4799+1G>A http://identifiers.org/clinvar/165392 ^@ NM_003242.5(TGFBR2):c.1016G>C (p.Arg339Pro) http://identifiers.org/clinvar/165497 ^@ NM_003280.2(TNNC1):c.97G>A (p.Asp33Asn) http://identifiers.org/clinvar/163497 ^@ NM_021167.4(GATAD1):c.537C>G (p.Cys179Trp) http://identifiers.org/clinvar/163599 ^@ NM_032119.3(ADGRV1):c.11562C>T (p.Ala3854=) http://identifiers.org/clinvar/200957 ^@ NM_170707.3(LMNA):c.522delA (p.Ala175Profs) http://identifiers.org/clinvar/201371 ^@ NM_001035.2(RYR2):c.848+1G>A http://identifiers.org/clinvar/201261 ^@ NM_001035.2(RYR2):c.5878A>G (p.Arg1960Gly) http://identifiers.org/clinvar/201315 ^@ NM_001035.2(RYR2):c.11836G>A (p.Gly3946Ser) http://identifiers.org/clinvar/201541 ^@ NM_198056.2(SCN5A):c.5592G>T (p.Glu1864Asp) http://identifiers.org/clinvar/201599 ^@ NM_198056.2(SCN5A):c.4246-2delA http://identifiers.org/clinvar/201484 ^@ NM_198056.2(SCN5A):c.3061C>T (p.Pro1021Ser) http://identifiers.org/clinvar/201428 ^@ NM_198056.2(SCN5A):c.86C>T (p.Ala29Val) http://identifiers.org/clinvar/200898 ^@ NM_000218.2(KCNQ1):c.805G>C (p.Gly269Arg) http://identifiers.org/clinvar/200842 ^@ NM_000218.2(KCNQ1):c.1128+5G>A http://identifiers.org/clinvar/201086 ^@ NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp) http://identifiers.org/clinvar/201032 ^@ NM_002474.2(MYH11):c.4068G>A (p.Met1356Ile) http://identifiers.org/clinvar/203095 ^@ NM_001256850.1(TTN):c.100484G>A (p.Arg33495Gln) http://identifiers.org/clinvar/203045 ^@ NM_001256850.1(TTN):c.94228G>A (p.Glu31410Lys) http://identifiers.org/clinvar/202995 ^@ NM_001256850.1(TTN):c.88807G>A (p.Ala29603Thr) http://identifiers.org/clinvar/202486 ^@ NM_001256850.1(TTN):c.82897delC (p.Leu27633Trpfs) http://identifiers.org/clinvar/202895 ^@ NM_001256850.1(TTN):c.74933G>A (p.Arg24978His) http://identifiers.org/clinvar/202845 ^@ NM_001256850.1(TTN):c.67903A>T (p.Thr22635Ser) http://identifiers.org/clinvar/202795 ^@ NM_001256850.1(TTN):c.60592G>A (p.Ala20198Thr) http://identifiers.org/clinvar/229813 ^@ NM_005732.3(RAD50):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/234166 ^@ NM_005732.3(RAD50):c.176C>T (p.Pro59Leu) http://identifiers.org/clinvar/234016 ^@ NM_005732.3(RAD50):c.2284C>T (p.Gln762Ter) http://identifiers.org/clinvar/230013 ^@ NM_005732.3(RAD50):c.2548C>G (p.Arg850Gly) http://identifiers.org/clinvar/233713 ^@ NM_002485.4(NBN):c.1796C>G (p.Thr599Arg) http://identifiers.org/clinvar/234216 ^@ NM_000051.3(ATM):c.829G>T (p.Glu277Ter) http://identifiers.org/clinvar/229763 ^@ NM_000051.3(ATM):c.1534A>G (p.Ile512Val) http://identifiers.org/clinvar/233765 ^@ NM_000051.3(ATM):c.2930G>A (p.Cys977Tyr) http://identifiers.org/clinvar/229863 ^@ NM_000051.3(ATM):c.4175A>G (p.Tyr1392Cys) http://identifiers.org/clinvar/230063 ^@ NM_000059.3(BRCA2):c.497A>T (p.His166Leu) http://identifiers.org/clinvar/234066 ^@ NM_000059.3(BRCA2):c.1292C>T (p.Thr431Ile) http://identifiers.org/clinvar/233815 ^@ NM_000548.4(TSC2):c.4839C>T (p.Asp1613=) http://identifiers.org/clinvar/233163 ^@ NM_024675.3(PALB2):c.1944T>C (p.Leu648=) http://identifiers.org/clinvar/233966 ^@ NM_001042492.2(NF1):c.3350G>A (p.Cys1117Tyr) http://identifiers.org/clinvar/229913 ^@ NM_058216.2(RAD51C):c.564G>T (p.Lys188Asn) http://identifiers.org/clinvar/233916 ^@ NM_000546.5(TP53):c.411G>C (p.Leu137=) http://identifiers.org/clinvar/229963 ^@ NM_000546.5(TP53):c.297C>T (p.Ser99=) http://identifiers.org/clinvar/233663 ^@ NM_005359.5(SMAD4):c.1088G>A (p.Cys363Tyr) http://identifiers.org/clinvar/235041 ^@ NM_004387.3(NKX2-5):c.334+1G>T http://identifiers.org/clinvar/234991 ^@ NM_000117.2(EMD):c.153dupC (p.Ser52Glnfs) http://identifiers.org/clinvar/235091 ^@ NM_032890.3(DISP1):c.1087A>G (p.Asn363Asp) http://identifiers.org/clinvar/235227 ^@ NC_012920.1:m.8540T>C http://identifiers.org/clinvar/235828 ^@ NM_001258221.1(KCTD1):c.58C>T (p.Pro20Ser) http://identifiers.org/clinvar/235900 ^@ NM_005334.2(HCFC1):c.1429G>A (p.Ala477Thr) http://identifiers.org/clinvar/236062 ^@ NM_000307.4(POU3F4):c.235C>T (p.Gln79Ter) http://identifiers.org/clinvar/236112 ^@ NM_000350.2(ABCA4):c.4347G>T (p.Trp1449Cys) http://identifiers.org/clinvar/236162 ^@ NM_004621.5(TRPC6):c.2142G>T (p.Thr714=) http://identifiers.org/clinvar/236301 ^@ NM_004992.3(MECP2):c.378-6C>G http://identifiers.org/clinvar/236351 ^@ NC_000003.10:g.2187318_2868274del680957 http://identifiers.org/clinvar/236452 ^@ NM_176824.2(BBS7):c.1712_1713delCTinsAGA (p.Ser571Terfs) http://identifiers.org/clinvar/236502 ^@ NM_006445.3(PRPF8):c.6470T>A (p.Val2157Glu) http://identifiers.org/clinvar/239452 ^@ NM_003001.3(SDHC):c.282G>A (p.Gly94=) http://identifiers.org/clinvar/241492 ^@ NM_024529.4(CDC73):c.1193A>T (p.Gln398Leu) http://identifiers.org/clinvar/239552 ^@ NM_003738.4(PTCH2):c.1073G>A (p.Arg358His) http://identifiers.org/clinvar/238848 ^@ NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile) http://identifiers.org/clinvar/238748 ^@ NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) http://identifiers.org/clinvar/239802 ^@ NM_004304.4(ALK):c.2149G>A (p.Glu717Lys) http://identifiers.org/clinvar/237358 ^@ NM_000251.2(MSH2):c.1130A>G (p.Gln377Arg) http://identifiers.org/clinvar/237208 ^@ NM_000179.2(MSH6):c.417A>G (p.Thr139=) http://identifiers.org/clinvar/237157 ^@ NM_000179.2(MSH6):c.2443C>A (p.Leu815Ile) http://identifiers.org/clinvar/240992 ^@ NM_015120.4(ALMS1):c.3019dupA (p.Arg1007Lysfs) http://identifiers.org/clinvar/237308 ^@ NM_000249.3(MLH1):c.1063C>T (p.Pro355Ser) http://identifiers.org/clinvar/242192 ^@ NM_198056.2(SCN5A):c.2141T>C (p.Val714Ala) http://identifiers.org/clinvar/240052 ^@ NM_004656.3(BAP1):c.177G>A (p.Arg59=) http://identifiers.org/clinvar/237258 ^@ NM_000222.2(KIT):c.2243T>C (p.Ile748Thr) http://identifiers.org/clinvar/236652 ^@ NM_000038.5(APC):c.814G>C (p.Ala272Pro) http://identifiers.org/clinvar/236602 ^@ NM_000038.5(APC):c.4650G>T (p.Glu1550Asp) http://identifiers.org/clinvar/242242 ^@ NM_198253.2(TERT):c.534C>T (p.Leu178=) http://identifiers.org/clinvar/239502 ^@ NM_003122.4(SPINK1):c.-142T>C http://identifiers.org/clinvar/241392 ^@ NM_021922.2(FANCE):c.1459A>G (p.Met487Val) http://identifiers.org/clinvar/241842 ^@ NM_138694.3(PKHD1):c.2445G>T (p.Gln815His) http://identifiers.org/clinvar/241092 ^@ NM_016203.3(PRKAG2):c.1335C>T (p.Ile445=) http://identifiers.org/clinvar/238898 ^@ NM_001277115.1(DNAH11):c.13406G>A (p.Arg4469Lys) http://identifiers.org/clinvar/240942 ^@ NM_014855.2(AP5Z1):c.329G>A (p.Arg110Gln) http://identifiers.org/clinvar/260052 ^@ NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg) http://identifiers.org/clinvar/261591 ^@ NM_022455.4(NSD1):c.5303+37C>A http://identifiers.org/clinvar/260941 ^@ NM_017838.3(NHP2):c.160+16G>C http://identifiers.org/clinvar/257362 ^@ NM_001080479.2(ARHGEF28):c.2283C>T (p.Gly761=) http://identifiers.org/clinvar/256262 ^@ NM_000493.3(COL10A1):c.80T>C (p.Met27Thr) http://identifiers.org/clinvar/262191 ^@ NM_033071.3(SYNE1):c.24832+44T>G http://identifiers.org/clinvar/261141 ^@ NM_019105.6(TNXB):c.549C>T (p.Ala183=) http://identifiers.org/clinvar/260002 ^@ NM_006567.4(FARS2):c.183C>T (p.Asp61=) http://identifiers.org/clinvar/259351 ^@ NM_004370.5(COL12A1):c.8325C>G (p.Pro2775=) http://identifiers.org/clinvar/261341 ^@ NM_020632.2(ATP6V0A4):c.1478+17A>G http://identifiers.org/clinvar/259401 ^@ NM_004456.4(EZH2):c.728+19G>C http://identifiers.org/clinvar/257462 ^@ NM_001101426.3(ISPD):c.1251+50A>G http://identifiers.org/clinvar/255423 ^@ NM_000168.5(GLI3):c.1498-44G>A http://identifiers.org/clinvar/255173 ^@ NM_000127.2(EXT1):c.1536+7G>A http://identifiers.org/clinvar/259001 ^@ NM_003235.4(TG):c.7501T>C (p.Trp2501Arg) http://identifiers.org/clinvar/259201 ^@ NM_003923.2(FOXH1):c.864T>C (p.Asn288=) http://identifiers.org/clinvar/261291 ^@ NM_020476.2(ANK1):c.1506C>T (p.Ala502=) http://identifiers.org/clinvar/260891 ^@ NM_017780.3(CHD7):c.1397C>T (p.Ser466Leu) http://identifiers.org/clinvar/261091 ^@ NM_019098.4(CNGB3):c.853-45T>C http://identifiers.org/clinvar/259802 ^@ NM_005592.3(MUSK):c.1719T>C (p.Asn573=) http://identifiers.org/clinvar/260152 ^@ NM_007171.3(POMT1):c.922-49T>G http://identifiers.org/clinvar/255073 ^@ NM_000093.4(COL5A1):c.2997C>T (p.Val999=) http://identifiers.org/clinvar/261191 ^@ NM_019892.5(INPP5E):c.1280-24C>T http://identifiers.org/clinvar/260202 ^@ NM_012144.3(DNAI1):c.1902C>T (p.His634=) http://identifiers.org/clinvar/259551 ^@ NM_004817.3(TJP2):c.1672-20C>G http://identifiers.org/clinvar/255273 ^@ NM_000136.2(FANCC):c.1155-38T>C http://identifiers.org/clinvar/259451 ^@ NM_004612.3(TGFBR1):c.1255+24G>A http://identifiers.org/clinvar/260991 ^@ NM_018055.4(NODAL):c.588C>G (p.Leu196=) http://identifiers.org/clinvar/260252 ^@ NM_012330.3(KAT6B):c.858T>C (p.Leu286=) http://identifiers.org/clinvar/261991 ^@ NM_032024.4(C10orf11):c.458C>T (p.Ser153Phe) http://identifiers.org/clinvar/256812 ^@ NM_000795.3(DRD2):c.928C>T (p.Pro310Ser) http://identifiers.org/clinvar/256362 ^@ NM_000525.3(KCNJ11):c.1095C>T (p.Arg365=) http://identifiers.org/clinvar/256312 ^@ NM_000506.4(F2):c.1233G>A (p.Pro411=) http://identifiers.org/clinvar/261241 ^@ NM_020376.3(PNPLA2):c.369C>T (p.Asp123=) http://identifiers.org/clinvar/261791 ^@ NM_024809.4(TCTN2):c.764+28G>C http://identifiers.org/clinvar/259601 ^@ NM_004985.4(KRAS):c.111+46T>G http://identifiers.org/clinvar/261941 ^@ NM_031157.3(HNRNPA1):c.133-17A>G http://identifiers.org/clinvar/256662 ^@ NM_000552.4(VWF):c.3222+31C>T http://identifiers.org/clinvar/261841 ^@ NM_025114.3(CEP290):c.2817+48A>G http://identifiers.org/clinvar/261741 ^@ NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) http://identifiers.org/clinvar/261391 ^@ NM_020937.3(FANCM):c.5627A>G (p.Asn1876Ser) http://identifiers.org/clinvar/257112 ^@ NM_001024858.2(SPTB):c.4121A>G (p.His1374Arg) http://identifiers.org/clinvar/260302 ^@ NM_013382.5(POMT2):c.817-18G>A http://identifiers.org/clinvar/261491 ^@ NM_022067.3(VIPAS39):c.735-45A>G http://identifiers.org/clinvar/255373 ^@ NM_000153.3(GALC):c.195+19G>A http://identifiers.org/clinvar/256762 ^@ NM_000693.3(ALDH1A3):c.807G>A (p.Ala269=) http://identifiers.org/clinvar/254873 ^@ NM_000070.2(CAPN3):c.498+32A>C http://identifiers.org/clinvar/332597 ^@ NM_003659.3(AGPS):c.*4885A>G http://identifiers.org/clinvar/332797 ^@ NM_133378.4(TTN):c.60687G>A (p.Pro20229=) http://identifiers.org/clinvar/332847 ^@ NM_133378.4(TTN):c.42284T>C (p.Ile14095Thr) http://identifiers.org/clinvar/333047 ^@ NM_000090.3(COL3A1):c.284C>T (p.Pro95Leu) http://identifiers.org/clinvar/333097 ^@ NM_000393.4(COL5A2):c.*1960A>G http://identifiers.org/clinvar/333147 ^@ NM_000393.4(COL5A2):c.851C>T (p.Pro284Leu) http://identifiers.org/clinvar/336605 ^@ NM_001039348.2(EFEMP1):c.*1088A>C http://identifiers.org/clinvar/336755 ^@ NM_015910.5(WDPCP):c.*142_*145delGTTT http://identifiers.org/clinvar/334137 ^@ NM_000384.2(APOB):c.5006A>G (p.Asn1669Ser) http://identifiers.org/clinvar/334037 ^@ NM_001875.4(CPS1):c.*5G>A http://identifiers.org/clinvar/336855 ^@ NM_002056.3(GFPT1):c.*1083A>C http://identifiers.org/clinvar/336905 ^@ NM_001004311.3(FIGLA):c.*5_*7delTGAinsAGG http://identifiers.org/clinvar/337055 ^@ NM_212552.2(BOLA3):c.*31T>C http://identifiers.org/clinvar/334438 ^@ NM_002181.3(IHH):c.799C>A (p.Arg267Ser) http://identifiers.org/clinvar/337155 ^@ NM_003849.3(SUCLG1):c.590-6G>A http://identifiers.org/clinvar/337205 ^@ NM_000821.6(GGCX):c.*3370_*3372delCTT http://identifiers.org/clinvar/342924 ^@ NM_015869.4(PPARG):c.507G>A (p.Leu169=) http://identifiers.org/clinvar/342974 ^@ NM_000373.3(UMPS):c.*2410_*2412delGAG http://identifiers.org/clinvar/343024 ^@ NM_000373.3(UMPS):c.*4231A>G http://identifiers.org/clinvar/343174 ^@ NM_004637.5(RAB7A):c.*801dupA http://identifiers.org/clinvar/343274 ^@ NM_000539.3(RHO):c.152G>C (p.Gly51Ala) http://identifiers.org/clinvar/342724 ^@ NM_020754.3(ARHGAP31):c.*2764C>A http://identifiers.org/clinvar/343724 ^@ NM_032383.4(HPS3):c.*97_*98insTCACACAC http://identifiers.org/clinvar/343974 ^@ NM_020800.2(IFT80):c.897G>A (p.Val299=) http://identifiers.org/clinvar/344024 ^@ NM_001041.3(SI):c.3790G>A (p.Glu1264Lys) http://identifiers.org/clinvar/343224 ^@ NM_000174.4(GP9):c.*38C>T http://identifiers.org/clinvar/344124 ^@ NM_005025.4(SERPINI1):c.281C>T (p.Ser94Leu) http://identifiers.org/clinvar/354440 ^@ NM_004385.4(VCAN):c.7419C>T (p.Ser2473=) http://identifiers.org/clinvar/354740 ^@ NM_001491.2(GCNT2):c.*2520C>A http://identifiers.org/clinvar/355580 ^@ NM_003630.2(PEX3):c.*317_*318dupTA http://identifiers.org/clinvar/355680 ^@ NM_203395.2(IYD):c.*3A>C http://identifiers.org/clinvar/351403 ^@ NM_054027.4(ANKH):c.*5641A>G http://identifiers.org/clinvar/355780 ^@ NM_203395.2(IYD):c.*5718delA http://identifiers.org/clinvar/351703 ^@ NM_024577.3(SH3TC2):c.*10864G>A http://identifiers.org/clinvar/351753 ^@ NM_024577.3(SH3TC2):c.*8423T>C http://identifiers.org/clinvar/356030 ^@ NM_003730.4(RNASET2):c.643G>A (p.Glu215Lys) http://identifiers.org/clinvar/352003 ^@ NM_000440.2(PDE6A):c.343G>A (p.Val115Ile) http://identifiers.org/clinvar/356080 ^@ NM_198586.2(NHLRC1):c.1076T>A (p.Val359Asp) http://identifiers.org/clinvar/351853 ^@ NM_024577.3(SH3TC2):c.*2428C>T http://identifiers.org/clinvar/356230 ^@ NM_000434.3(NEU1):c.1107C>A (p.Gly369=) http://identifiers.org/clinvar/356330 ^@ NM_006929.4(SKIV2L):c.1890C>T (p.Arg630=) http://identifiers.org/clinvar/352101 ^@ NM_005211.3(CSF1R):c.*721_*724delAACA http://identifiers.org/clinvar/356780 ^@ NM_000322.4(PRPH2):c.92G>T (p.Gly31Val) http://identifiers.org/clinvar/356880 ^@ NM_203290.3(POLR1C):c.809A>T (p.Lys270Ile) http://identifiers.org/clinvar/353140 ^@ NM_014244.4(ADAMTS2):c.661C>G (p.Leu221Val) http://identifiers.org/clinvar/353190 ^@ NM_004553.4(NDUFS6):c.27G>C (p.Arg9=) http://identifiers.org/clinvar/353640 ^@ NM_002310.5(LIFR):c.-90T>C http://identifiers.org/clinvar/353690 ^@ NM_000163.4(GHR):c.1899G>A (p.Leu633=) http://identifiers.org/clinvar/306313 ^@ NM_020376.3(PNPLA2):c.*383C>T http://identifiers.org/clinvar/306364 ^@ NM_012193.3(FZD4):c.*3042A>G http://identifiers.org/clinvar/306414 ^@ NM_012193.3(FZD4):c.-262C>T http://identifiers.org/clinvar/306764 ^@ NM_153694.4(SYCP3):c.435A>G (p.Glu145=) http://identifiers.org/clinvar/306814 ^@ NM_024312.4(GNPTAB):c.703C>G (p.Pro235Ala) http://identifiers.org/clinvar/364217 ^@ NM_014425.4(INVS):c.-178G>A http://identifiers.org/clinvar/300270 ^@ NM_000399.4(EGR2):c.*456G>A http://identifiers.org/clinvar/306914 ^@ NM_000277.1(PAH):c.299A>G (p.His100Arg) http://identifiers.org/clinvar/306964 ^@ NM_080911.2(UNG):c.-51A>T http://identifiers.org/clinvar/300470 ^@ NM_022124.5(CDH23):c.9014C>T (p.Ala3005Val) http://identifiers.org/clinvar/364617 ^@ NM_005592.3(MUSK):c.2573G>A (p.Arg858His) http://identifiers.org/clinvar/364717 ^@ NM_012210.3(TRIM32):c.409C>T (p.Pro137Ser) http://identifiers.org/clinvar/364517 ^@ NM_001079802.1(FKTN):c.*3861T>C http://identifiers.org/clinvar/364567 ^@ NM_003640.4(IKBKAP):c.2370A>G (p.Glu790=) http://identifiers.org/clinvar/364917 ^@ NM_002316.3(LMX1B):c.*1106_*1107delTT http://identifiers.org/clinvar/364667 ^@ NM_000031.5(ALAD):c.-160_-159insA http://identifiers.org/clinvar/364867 ^@ NM_000550.2(TYRP1):c.*472_*475delATTA http://identifiers.org/clinvar/365067 ^@ NM_003165.3(STXBP1):c.*1464C>T http://identifiers.org/clinvar/301070 ^@ NM_007055.3(POLR3A):c.1649A>G (p.Tyr550Cys) http://identifiers.org/clinvar/301170 ^@ NM_000429.2(MAT1A):c.*736G>A http://identifiers.org/clinvar/364967 ^@ NM_002316.3(LMX1B):c.*3342T>C http://identifiers.org/clinvar/365317 ^@ NM_015046.5(SETX):c.*1368G>A http://identifiers.org/clinvar/365367 ^@ NM_015046.5(SETX):c.2216G>A (p.Gly739Glu) http://identifiers.org/clinvar/308603 ^@ NM_017641.3(KIF21A):c.-313G>A http://identifiers.org/clinvar/308853 ^@ NM_001017535.1(VDR):c.*1179delA http://identifiers.org/clinvar/309153 ^@ NM_000217.2(KCNA1):c.*234A>T http://identifiers.org/clinvar/365467 ^@ NM_000368.4(TSC1):c.*1902T>G http://identifiers.org/clinvar/309403 ^@ NM_014191.3(SCN8A):c.*2825T>A http://identifiers.org/clinvar/309453 ^@ NM_000020.2(ACVRL1):c.*499T>G http://identifiers.org/clinvar/309503 ^@ NM_002282.3(KRT83):c.1059T>C (p.Ala353=) http://identifiers.org/clinvar/366207 ^@ NM_003070.4(SMARCA2):c.1746+10C>T http://identifiers.org/clinvar/366257 ^@ NM_002451.3(MTAP):c.*259C>A http://identifiers.org/clinvar/366307 ^@ NM_002451.3(MTAP):c.*3093T>C http://identifiers.org/clinvar/302259 ^@ NM_000051.3(ATM):c.*371A>G http://identifiers.org/clinvar/366607 ^@ NM_001497.3(B4GALT1):c.*2402G>A http://identifiers.org/clinvar/366657 ^@ NM_001497.3(B4GALT1):c.892C>G (p.Leu298Val) http://identifiers.org/clinvar/302759 ^@ NM_005188.3(CBL):c.-100_-95dupGGCGGC http://identifiers.org/clinvar/366807 ^@ NM_005476.5(GNE):c.*2196dupT http://identifiers.org/clinvar/306664 ^@ NM_018979.3(WNK1):c.7021G>A (p.Gly2341Ser) http://identifiers.org/clinvar/366407 ^@ NM_133497.3(KCNV2):c.-6G>A http://identifiers.org/clinvar/366957 ^@ NM_001042413.1(GLIS3):c.2110G>A (p.Gly704Arg) http://identifiers.org/clinvar/366507 ^@ NM_001256054.2(C9orf72):c.1424G>A (p.Arg475Gln) http://identifiers.org/clinvar/367007 ^@ NM_001042413.1(GLIS3):c.-131G>A http://identifiers.org/clinvar/303009 ^@ NM_005422.2(TECTA):c.2643C>T (p.Phe881=) http://identifiers.org/clinvar/367057 ^@ NM_004170.5(SLC1A1):c.1231G>A (p.Val411Met) http://identifiers.org/clinvar/303059 ^@ NM_006918.4(SC5D):c.*313A>T http://identifiers.org/clinvar/314496 ^@ NM_004452.3(ESRRB):c.*643T>C http://identifiers.org/clinvar/312807 ^@ NM_001126106.2(SLC7A7):c.*141T>G http://identifiers.org/clinvar/340835 ^@ NM_004782.3(SNAP29):c.550A>G (p.Met184Val) http://identifiers.org/clinvar/314746 ^@ NM_000153.3(GALC):c.1642A>G (p.Thr548Ala) http://identifiers.org/clinvar/341035 ^@ NM_022081.5(HPS4):c.-585T>G http://identifiers.org/clinvar/341085 ^@ NM_000268.3(NF2):c.*354T>C http://identifiers.org/clinvar/341185 ^@ NM_000355.3(TCN2):c.-98T>G http://identifiers.org/clinvar/313157 ^@ NM_006194.3(PAX9):c.-338C>T http://identifiers.org/clinvar/341285 ^@ NM_000343.3(SLC5A1):c.*1346A>G http://identifiers.org/clinvar/341385 ^@ NM_000362.4(TIMP3):c.*2313C>A http://identifiers.org/clinvar/341585 ^@ NM_153609.3(TMPRSS6):c.1468+15C>T http://identifiers.org/clinvar/341685 ^@ NM_022098.3(XPNPEP3):c.*637C>T http://identifiers.org/clinvar/342035 ^@ NM_024105.3(ALG12):c.*276T>G http://identifiers.org/clinvar/342085 ^@ NM_015166.3(MLC1):c.*1143C>T http://identifiers.org/clinvar/323631 ^@ NM_005910.5(MAPT):c.-315C>A http://identifiers.org/clinvar/323681 ^@ NM_005910.5(MAPT):c.*1670C>T http://identifiers.org/clinvar/323781 ^@ NM_001193466.1(KANSL1):c.1491A>G (p.Pro497=) http://identifiers.org/clinvar/323831 ^@ NM_004287.4(GOSR2):c.*332A>G http://identifiers.org/clinvar/367986 ^@ NM_001011658.3(TRAPPC2):c.*490C>T http://identifiers.org/clinvar/314246 ^@ NM_000428.2(LTBP2):c.*1818C>T http://identifiers.org/clinvar/316285 ^@ NM_000338.2(SLC12A1):c.*110G>T http://identifiers.org/clinvar/316385 ^@ NM_000138.4(FBN1):c.1468+4C>A http://identifiers.org/clinvar/314446 ^@ NM_003239.4(TGFB3):c.*120C>T http://identifiers.org/clinvar/314596 ^@ NM_004863.3(SPTLC2):c.*4039T>C http://identifiers.org/clinvar/316635 ^@ NM_004580.4(RAB27A):c.*858G>A http://identifiers.org/clinvar/314646 ^@ NM_004863.3(SPTLC2):c.*1077A>T http://identifiers.org/clinvar/314696 ^@ NM_000369.2(TSHR):c.1191G>T (p.Val397=) http://identifiers.org/clinvar/316785 ^@ NM_004727.2(SLC24A1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/324729 ^@ NM_031220.3(PITPNM3):c.*824G>T http://identifiers.org/clinvar/324629 ^@ NM_004655.3(AXIN2):c.*1016C>T http://identifiers.org/clinvar/314946 ^@ NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) http://identifiers.org/clinvar/317235 ^@ NM_000326.4(RLBP1):c.796-7C>G http://identifiers.org/clinvar/317285 ^@ NM_001113378.1(FANCI):c.2169+12G>A http://identifiers.org/clinvar/315346 ^@ NM_144599.4(NIPA1):c.*4774G>A http://identifiers.org/clinvar/317536 ^@ NM_000875.4(IGF1R):c.*2610_*2613delAACA http://identifiers.org/clinvar/325179 ^@ NM_001005731.2(ITGB4):c.3338C>T (p.Thr1113Met) http://identifiers.org/clinvar/315146 ^@ NM_139057.3(ADAMTS17):c.*2354C>T http://identifiers.org/clinvar/325579 ^@ NM_006640.4(SEPT9):c.*45C>T http://identifiers.org/clinvar/317936 ^@ NM_001287.5(CLCN7):c.*379C>T http://identifiers.org/clinvar/317986 ^@ NM_014714.3(IFT140):c.4278G>T (p.Gly1426=) http://identifiers.org/clinvar/325780 ^@ NM_000152.4(GAA):c.531C>T (p.Asn177=) http://identifiers.org/clinvar/372790 ^@ NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) http://identifiers.org/clinvar/373296 ^@ NM_152281.2(GORAB):c.743G>C (p.Arg248Pro) http://identifiers.org/clinvar/372843 ^@ NM_031844.2(HNRNPU):c.837_839delAGA (p.Glu279del) http://identifiers.org/clinvar/372740 ^@ NM_001165963.1(SCN1A):c.5564C>T (p.Pro1855Leu) http://identifiers.org/clinvar/373496 ^@ NM_015662.2(IFT172):c.831G>C (p.Glu277Asp) http://identifiers.org/clinvar/373396 ^@ NM_006254.3(PRKCD):c.1360G>A (p.Ala454Thr) http://identifiers.org/clinvar/373596 ^@ NM_017617.4(NOTCH1):c.4335C>G (p.Ile1445Met) http://identifiers.org/clinvar/372893 ^@ NM_001061.4(TBXAS1):c.896_901delACATCG (p.Asp299_Ile300del) http://identifiers.org/clinvar/373446 ^@ NM_000314.6(PTEN):c.140G>A (p.Arg47Lys) http://identifiers.org/clinvar/372996 ^@ NM_024531.4(SLC52A2):c.353C>A (p.Ala118Asp) http://identifiers.org/clinvar/372689 ^@ NM_032228.5(FAR1):c.1439G>A (p.Arg480His) http://identifiers.org/clinvar/373646 ^@ NM_014191.3(SCN8A):c.1613G>A (p.Arg538Lys) http://identifiers.org/clinvar/373196 ^@ NM_017882.2(CLN6):c.119C>T (p.Thr40Met) http://identifiers.org/clinvar/373346 ^@ NM_002225.3(IVD):c.832G>A (p.Val278Met) http://identifiers.org/clinvar/373246 ^@ NM_005477.2(HCN4):c.896A>G (p.Asn299Ser) http://identifiers.org/clinvar/373696 ^@ NM_018668.4(VPS33B):c.133_136delCTCAinsATCT (p.Leu45_Met46delinsIleLeu) http://identifiers.org/clinvar/373746 ^@ NM_001083962.1(TCF4):c.706C>G (p.Pro236Ala) http://identifiers.org/clinvar/373796 ^@ NM_001127221.1(CACNA1A):c.6660delTinsCCACCAC (p.His2220_Pro2221insHisHis) http://identifiers.org/clinvar/373546 ^@ NM_000267.3(NF1):c.5999delG (p.Gly2000Valfs) http://identifiers.org/clinvar/373046 ^@ NM_080647.1(TBX1):c.1176_1195dup20 (p.Glu399Glyfs) http://identifiers.org/clinvar/372946 ^@ NM_177559.2(CSNK2A1):c.239G>A (p.Arg80His) http://identifiers.org/clinvar/373846 ^@ NG_005905.2:g.160911_164110del3200 http://identifiers.org/clinvar/373899 ^@ NM_006623.3(PHGDH):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/374099 ^@ NM_001376.4(DYNC1H1):c.751C>T (p.Arg251Cys) http://identifiers.org/clinvar/374149 ^@ NM_000088.3(COL1A1):c.804+1G>C http://identifiers.org/clinvar/374049 ^@ NM_000271.4(NPC1):c.1421C>T (p.Pro474Leu) http://identifiers.org/clinvar/373949 ^@ NM_139058.2(ARX):c.1579_1582delAGAC (p.Arg527Alafs) http://identifiers.org/clinvar/373999 ^@ NM_004006.2(DMD):c.5203C>A (p.Arg1735Ser) http://identifiers.org/clinvar/374441 ^@ NM_000435.2(NOTCH3):c.2118C>T (p.His706=) http://identifiers.org/clinvar/374491 ^@ NM_182914.2(SYNE2):c.16664G>T (p.Ser5555Ile) http://identifiers.org/clinvar/374541 ^@ NM_183075.2(CYP2U1):c.1396C>T (p.Arg466Ter) http://identifiers.org/clinvar/374591 ^@ NM_206933.2(USH2A):c.6883G>A (p.Gly2295Arg) http://identifiers.org/clinvar/374641 ^@ NM_014946.3(SPAST):c.1066G>A (p.Glu356Lys) http://identifiers.org/clinvar/375829 ^@ NM_000527.4(LDLR):c.2056C>G (p.Gln686Glu) http://identifiers.org/clinvar/375882 ^@ NM_175629.2(DNMT3A):c.2644C>T (p.Arg882Cys) http://identifiers.org/clinvar/375932 ^@ NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) http://identifiers.org/clinvar/389875 ^@ NM_000179.2(MSH6):c.243G>T (p.Ala81=) http://identifiers.org/clinvar/390825 ^@ NM_015120.4(ALMS1):c.11871T>C (p.His3957=) http://identifiers.org/clinvar/390375 ^@ NM_000388.3(CASR):c.1750A>T (p.Lys584Ter) http://identifiers.org/clinvar/390225 ^@ NM_015120.4(ALMS1):c.1637C>T (p.Thr546Ile) http://identifiers.org/clinvar/381292 ^@ NM_000251.2(MSH2):c.2205C>A (p.Ile735=) http://identifiers.org/clinvar/378547 ^@ NM_198056.2(SCN5A):c.4203C>T (p.Asn1401=) http://identifiers.org/clinvar/392764 ^@ NM_001080522.2(CC2D2A):c.3250T>A (p.Tyr1084Asn) http://identifiers.org/clinvar/379449 ^@ NM_001135659.2(NRXN1):c.726G>A (p.Val242=) http://identifiers.org/clinvar/379850 ^@ NM_032682.5(FOXP1):c.1489C>T (p.Arg497Ter) http://identifiers.org/clinvar/393214 ^@ NM_001059.2(TACR3):c.775C>T (p.Pro259Ser) http://identifiers.org/clinvar/381392 ^@ NM_004453.3(ETFDH):c.627T>C (p.Gly209=) http://identifiers.org/clinvar/379549 ^@ NM_001151.3(SLC25A4):c.12C>A (p.His4Gln) http://identifiers.org/clinvar/389775 ^@ NM_024577.3(SH3TC2):c.936G>A (p.Ser312=) http://identifiers.org/clinvar/378949 ^@ NM_000038.5(APC):c.6579A>G (p.Lys2193=) http://identifiers.org/clinvar/389825 ^@ NM_003242.5(TGFBR2):c.1525-5T>C http://identifiers.org/clinvar/386926 ^@ NM_012208.3(HARS2):c.1092T>C (p.Tyr364=) http://identifiers.org/clinvar/383485 ^@ NM_013391.3(DMGDH):c.1364-19A>G http://identifiers.org/clinvar/389925 ^@ NM_004656.3(BAP1):c.784-14G>T http://identifiers.org/clinvar/390775 ^@ NM_002290.4(LAMA4):c.3261+7A>C http://identifiers.org/clinvar/380841 ^@ NM_002291.2(LAMB1):c.4879T>C (p.Leu1627=) http://identifiers.org/clinvar/386576 ^@ NM_024582.4(FAT4):c.6478A>G (p.Lys2160Glu) http://identifiers.org/clinvar/384837 ^@ NM_018341.2(ERMARD):c.819A>G (p.Pro273=) http://identifiers.org/clinvar/384186 ^@ NM_000038.5(APC):c.1744-19A>G http://identifiers.org/clinvar/391625 ^@ NM_004456.4(EZH2):c.1410+19A>G http://identifiers.org/clinvar/379649 ^@ NM_006904.6(PRKDC):c.8695C>T (p.Arg2899Cys) http://identifiers.org/clinvar/385587 ^@ NM_001999.3(FBN2):c.6573C>T (p.Asp2191=) http://identifiers.org/clinvar/379349 ^@ NM_022455.4(NSD1):c.1397C>G (p.Ser466Ter) http://identifiers.org/clinvar/378647 ^@ NM_001130438.2(SPTAN1):c.480C>T (p.Asp160=) http://identifiers.org/clinvar/384737 ^@ NM_000445.4(PLEC):c.5541C>T (p.Ala1847=) http://identifiers.org/clinvar/385087 ^@ NM_000445.4(PLEC):c.5059G>A (p.Ala1687Thr) http://identifiers.org/clinvar/381492 ^@ NM_000535.6(PMS2):c.1533G>T (p.Thr511=) http://identifiers.org/clinvar/386776 ^@ NM_000093.4(COL5A1):c.2580C>A (p.Pro860=) http://identifiers.org/clinvar/384887 ^@ NM_020822.2(KCNT1):c.2842-15C>T http://identifiers.org/clinvar/390325 ^@ NM_006904.6(PRKDC):c.4137C>T (p.Pro1379=) http://identifiers.org/clinvar/378039 ^@ NM_020822.2(KCNT1):c.3694G>A (p.Glu1232Lys) http://identifiers.org/clinvar/381592 ^@ NM_020975.4(RET):c.523C>T (p.Arg175Cys) http://identifiers.org/clinvar/133039 ^@ NM_000540.2(RYR1):c.12624+1597T>C http://identifiers.org/clinvar/133089 ^@ NM_000540.2(RYR1):c.14681C>T (p.Ala4894Val) http://identifiers.org/clinvar/133139 ^@ NM_000540.2(RYR1):c.493G>A (p.Gly165Arg) http://identifiers.org/clinvar/133189 ^@ NM_000540.2(RYR1):c.7124G>C (p.Gly2375Ala) http://identifiers.org/clinvar/133239 ^@ NM_000540.2(RYR1):c.9173-98T>G http://identifiers.org/clinvar/133318 ^@ NM_001199917.1(PGM3):c.975T>G (p.Asp325Glu) http://identifiers.org/clinvar/133381 ^@ NM_014159.6(SETD2):c.4839+278C>T http://identifiers.org/clinvar/133431 ^@ NM_000548.4(TSC2):c.3884-150G>A http://identifiers.org/clinvar/133481 ^@ NM_004304.4(ALK):c.808T>C (p.Phe270Leu) http://identifiers.org/clinvar/133532 ^@ NM_000038.5(APC):c.5108G>C (p.Gly1703Ala) http://identifiers.org/clinvar/133582 ^@ NM_015338.5(ASXL1):c.3083C>T (p.Ser1028Leu) http://identifiers.org/clinvar/135036 ^@ NM_006218.3(PIK3CA):c.1837G>A (p.Gly613Ser) http://identifiers.org/clinvar/135087 ^@ NM_001198.3(PRDM1):c.1222G>C (p.Ala408Pro) http://identifiers.org/clinvar/135138 ^@ NM_004260.3(RECQL4):c.2395G>A (p.Val799Met) http://identifiers.org/clinvar/135219 ^@ NM_014159.6(SETD2):c.1775C>A (p.Thr592Lys) http://identifiers.org/clinvar/135270 ^@ NM_005631.4(SMO):c.1417G>A (p.Asp473Asn) http://identifiers.org/clinvar/135320 ^@ NM_001127208.2(TET2):c.434G>A (p.Ser145Asn) http://identifiers.org/clinvar/135370 ^@ NM_000548.4(TSC2):c.1066G>C (p.Val356Leu) http://identifiers.org/clinvar/135421 ^@ NM_000553.4(WRN):c.1909C>T (p.Arg637Trp) http://identifiers.org/clinvar/135471 ^@ NM_004628.4(XPC):c.2537G>C (p.Gly846Ala) http://identifiers.org/clinvar/135521 ^@ NM_001005862.2(ERBB2):c.931+31C>T http://identifiers.org/clinvar/135572 ^@ NM_006164.4(NFE2L2):c.402+8A>G http://identifiers.org/clinvar/135647 ^@ NC_000006.10:g.(165249445_165297427)_(170688258_170899992)del http://identifiers.org/clinvar/135706 ^@ NM_000038.5(APC):c.5140G>A (p.Asp1714Asn) http://identifiers.org/clinvar/135758 ^@ NM_000051.3(ATM):c.4980C>T (p.Asn1660=) http://identifiers.org/clinvar/135816 ^@ NM_000059.3(BRCA2):c.7828G>A (p.Val2610Met) http://identifiers.org/clinvar/135866 ^@ NM_000264.3(PTCH1):c.1137C>T (p.Tyr379=) http://identifiers.org/clinvar/135916 ^@ NM_000455.4(STK11):c.1194G>A (p.Ala398=) http://identifiers.org/clinvar/135967 ^@ NM_001127500.2(MET):c.3864C>T (p.Gly1288=) http://identifiers.org/clinvar/136018 ^@ NM_002354.2(EPCAM):c.232C>G (p.Leu78Val) http://identifiers.org/clinvar/136068 ^@ NM_004360.3(CDH1):c.48+6_48+7delinsTT http://identifiers.org/clinvar/136119 ^@ NM_020975.4(RET):c.3326T>C (p.Met1109Thr) http://identifiers.org/clinvar/136169 ^@ NM_130799.2(MEN1):c.30G>T (p.Leu10=) http://identifiers.org/clinvar/136230 ^@ NM_020745.3(AARS2):c.1412G>A (p.Arg471Gln) http://identifiers.org/clinvar/136281 ^@ NM_005159.4(ACTC1):c.809-12A>G http://identifiers.org/clinvar/136331 ^@ NM_005751.4(AKAP9):c.5163-20G>A http://identifiers.org/clinvar/136383 ^@ NM_001148.4(ANK2):c.615C>T (p.Thr205=) http://identifiers.org/clinvar/185871 ^@ NM_007294.3(BRCA1):c.1227A>G (p.Val409=) http://identifiers.org/clinvar/186623 ^@ NM_058216.2(RAD51C):c.9G>C (p.Gly3=) http://identifiers.org/clinvar/185621 ^@ NM_058216.2(RAD51C):c.1062A>G (p.Ala354=) http://identifiers.org/clinvar/185721 ^@ NM_005359.5(SMAD4):c.474G>A (p.Val158=) http://identifiers.org/clinvar/185521 ^@ NM_007194.3(CHEK2):c.1453T>C (p.Trp485Arg) http://identifiers.org/clinvar/188045 ^@ NM_003922.3(HERC1):c.9748C>T (p.Arg3250Ter) http://identifiers.org/clinvar/188356 ^@ NM_000251.2(MSH2):c.174C>A (p.Phe58Leu) http://identifiers.org/clinvar/188147 ^@ NM_001127500.2(MET):c.3317A>G (p.His1106Arg) http://identifiers.org/clinvar/188197 ^@ NM_002047.3(GARS):c.236G>A (p.Arg79Gln) http://identifiers.org/clinvar/188303 ^@ NM_004629.1(FANCG):c.1747G>T (p.Glu583Ter) http://identifiers.org/clinvar/188250 ^@ NM_025137.3(SPG11):c.2877C>A (p.Cys959Ter) http://identifiers.org/clinvar/188096 ^@ NM_024675.3(PALB2):c.1316G>T (p.Gly439Val) http://identifiers.org/clinvar/188515 ^@ NM_000251.2(MSH2):c.1278_1386+1del110 http://identifiers.org/clinvar/188665 ^@ NM_024334.2(TMEM43):c.*16C>T http://identifiers.org/clinvar/188465 ^@ NM_004415.3(DSP):c.3562T>C (p.Tyr1188His) http://identifiers.org/clinvar/188565 ^@ NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp) http://identifiers.org/clinvar/188615 ^@ NM_000257.3(MYH7):c.2334C>A (p.Asp778Glu) http://identifiers.org/clinvar/188414 ^@ NM_007294.3(BRCA1):c.4386dupA (p.Tyr1463Ilefs) http://identifiers.org/clinvar/188865 ^@ NM_000187.3(HGD):c.365C>T (p.Ala122Val) http://identifiers.org/clinvar/188715 ^@ NM_000441.1(SLC26A4):c.279delT (p.Ser93Argfs) http://identifiers.org/clinvar/189167 ^@ NM_000441.1(SLC26A4):c.304+2T>C http://identifiers.org/clinvar/189017 ^@ NM_000441.1(SLC26A4):c.1920G>A (p.Trp640Ter) http://identifiers.org/clinvar/188916 ^@ NM_005476.5(GNE):c.1306C>T (p.Gln436Ter) http://identifiers.org/clinvar/188765 ^@ NM_012203.1(GRHPR):c.337G>A (p.Glu113Lys) http://identifiers.org/clinvar/188815 ^@ NM_000153.3(GALC):c.908+1G>A http://identifiers.org/clinvar/189067 ^@ NM_004937.2(CTNS):c.561+1delG http://identifiers.org/clinvar/188966 ^@ NM_000151.3(G6PC):c.189G>A (p.Trp63Ter) http://identifiers.org/clinvar/189117 ^@ NM_000271.4(NPC1):c.2801G>A (p.Arg934Gln) http://identifiers.org/clinvar/189233 ^@ NM_000426.3(LAMA2):c.5563-2A>G http://identifiers.org/clinvar/189285 ^@ NM_014795.3(ZEB2):c.1966_1967delAT (p.Met656Valfs) http://identifiers.org/clinvar/189344 ^@ NM_014314.3(DDX58):c.1118A>C (p.Glu373Ala) http://identifiers.org/clinvar/189435 ^@ NM_000314.6(PTEN):c.-1087_-1062del26 http://identifiers.org/clinvar/189497 ^@ NM_000314.6(PTEN):c.-836C>T http://identifiers.org/clinvar/189557 ^@ NM_003159.2(CDKL5):c.1417dupA (p.Ile473Asnfs) http://identifiers.org/clinvar/239652 ^@ NM_004168.3(SDHA):c.1549A>G (p.Lys517Glu) http://identifiers.org/clinvar/190278 ^@ ADNP, 1-BP INS, T http://identifiers.org/clinvar/190349 ^@ NM_002055.4(GFAP):c.803C>A (p.Ala268Asp) http://identifiers.org/clinvar/190410 ^@ NM_001131023.1(PEX5):c.722dupA (p.Val242Glyfs) http://identifiers.org/clinvar/229172 ^@ NM_016203.3(PRKAG2):c.488C>T (p.Pro163Leu) http://identifiers.org/clinvar/227291 ^@ NM_015404.3(WHRN):c.2193C>T (p.Ser731=) http://identifiers.org/clinvar/228022 ^@ NM_001128228.2(TPRN):c.1839_1844dupGGAGGA (p.Glu621_Gly622insGluGlu) http://identifiers.org/clinvar/228322 ^@ NM_004281.3(BAG3):c.925C>T (p.Arg309Ter) http://identifiers.org/clinvar/226500 ^@ NM_022124.5(CDH23):c.9014C>G (p.Ala3005Gly) http://identifiers.org/clinvar/228472 ^@ NM_005188.3(CBL):c.1283_1384del102 (p.Pro428_Glu461del) http://identifiers.org/clinvar/227771 ^@ NM_001277269.1(OTOG):c.2598-14G>A http://identifiers.org/clinvar/228572 ^@ NM_019887.5(DIABLO):c.291T>G (p.Ile97Met) http://identifiers.org/clinvar/228422 ^@ NM_005691.3(ABCC9):c.-14_-8delCCATATA http://identifiers.org/clinvar/227821 ^@ NM_173591.3(OTOGL):c.4119C>A (p.Pro1373=) http://identifiers.org/clinvar/228672 ^@ NM_004452.3(ESRRB):c.1196delT (p.Leu399Argfs) http://identifiers.org/clinvar/227972 ^@ NM_153700.2(STRC):c.4903G>T (p.Val1635Phe) http://identifiers.org/clinvar/228372 ^@ NM_016239.3(MYO15A):c.1185dupC (p.Glu396Argfs) http://identifiers.org/clinvar/228972 ^@ NM_016239.3(MYO15A):c.9181G>A (p.Glu3061Lys) http://identifiers.org/clinvar/228622 ^@ NM_004949.4(DSC2):c.584T>C (p.Leu195Ser) http://identifiers.org/clinvar/229022 ^@ NM_003803.3(MYOM1):c.335T>G (p.Leu112Trp) http://identifiers.org/clinvar/228822 ^@ NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) http://identifiers.org/clinvar/227090 ^@ NM_001039876.2(SYNE4):c.819T>C (p.Cys273=) http://identifiers.org/clinvar/227240 ^@ NM_001039213.3(CEACAM16):c.1249G>C (p.Val417Leu) http://identifiers.org/clinvar/228872 ^@ NM_001145809.1(MYH14):c.2458C>T (p.Arg820Cys) http://identifiers.org/clinvar/228922 ^@ NM_002473.5(MYH9):c.*8C>T http://identifiers.org/clinvar/226550 ^@ NM_000395.2(CSF2RB):c.1954G>A (p.Val652Met) http://identifiers.org/clinvar/227140 ^@ NM_144991.2(TSPEAR):c.702C>T (p.Asn234=) http://identifiers.org/clinvar/234800 ^@ NM_002977.3(SCN9A):c.1901G>A (p.Arg634His) http://identifiers.org/clinvar/234750 ^@ NM_000179.2(MSH6):c.248C>G (p.Ala83Gly) http://identifiers.org/clinvar/234600 ^@ NM_000179.2(MSH6):c.427G>A (p.Val143Ile) http://identifiers.org/clinvar/234550 ^@ NM_000179.2(MSH6):c.2002T>C (p.Ser668Pro) http://identifiers.org/clinvar/234448 ^@ NM_000179.2(MSH6):c.2269_2270delAC (p.Thr757Profs) http://identifiers.org/clinvar/234499 ^@ NM_000179.2(MSH6):c.2434C>A (p.Leu812Ile) http://identifiers.org/clinvar/234901 ^@ NM_000179.2(MSH6):c.3946G>C (p.Gly1316Arg) http://identifiers.org/clinvar/234851 ^@ NM_000535.6(PMS2):c.1345C>G (p.Gln449Glu) http://identifiers.org/clinvar/234380 ^@ NM_000431.3(MVK):c.802A>G (p.Ile268Val) http://identifiers.org/clinvar/233613 ^@ NM_032043.2(BRIP1):c.995G>A (p.Cys332Tyr) http://identifiers.org/clinvar/234650 ^@ NM_032043.2(BRIP1):c.380-9T>C http://identifiers.org/clinvar/234273 ^@ NM_004655.3(AXIN2):c.1780G>A (p.Ala594Thr) http://identifiers.org/clinvar/234328 ^@ NM_014646.2(LPIN2):c.560C>T (p.Ser187Phe) http://identifiers.org/clinvar/234700 ^@ NM_000455.4(STK11):c.125G>A (p.Arg42Gln) http://identifiers.org/clinvar/234116 ^@ NM_000251.2(MSH2):c.-68-194G>C http://identifiers.org/clinvar/233563 ^@ NM_000251.2(MSH2):c.1889G>T (p.Gly630Val) http://identifiers.org/clinvar/233213 ^@ NM_000249.3(MLH1):c.1935C>A (p.Asn645Lys) http://identifiers.org/clinvar/233866 ^@ NM_000038.5(APC):c.2859A>G (p.Lys953=) http://identifiers.org/clinvar/264730 ^@ NM_001242896.1(DEPDC5):c.1264C>T (p.Arg422Ter) http://identifiers.org/clinvar/264785 ^@ NM_007294.3(BRCA1):c.134+3004G>A http://identifiers.org/clinvar/264835 ^@ NM_007294.3(BRCA1):c.80+1470A>T http://identifiers.org/clinvar/265295 ^@ NM_024426.4(WT1):c.136delG (p.Ala46Profs) http://identifiers.org/clinvar/265345 ^@ NM_014254.2(TMEM5):c.92delG (p.Arg31Profs) http://identifiers.org/clinvar/267287 ^@ NM_000339.2(SLC12A3):c.1849C>T (p.Gln617Ter) http://identifiers.org/clinvar/266606 ^@ NM_000059.3(BRCA2):c.1058C>G (p.Ser353Ter) http://identifiers.org/clinvar/266656 ^@ NM_000059.3(BRCA2):c.1739_1754del16 (p.Ile580Argfs) http://identifiers.org/clinvar/266706 ^@ NM_000059.3(BRCA2):c.2514delA (p.Lys838Asnfs) http://identifiers.org/clinvar/266756 ^@ NM_000059.3(BRCA2):c.3523C>T (p.Gln1175Ter) http://identifiers.org/clinvar/266806 ^@ NM_000059.3(BRCA2):c.4366G>T (p.Glu1456Ter) http://identifiers.org/clinvar/266856 ^@ NM_000059.3(BRCA2):c.5198_5199dupCC (p.Glu1734Profs) http://identifiers.org/clinvar/266906 ^@ NM_000059.3(BRCA2):c.5948delG (p.Gly1983Glufs) http://identifiers.org/clinvar/266956 ^@ NM_000059.3(BRCA2):c.6515C>A (p.Ser2172Ter) http://identifiers.org/clinvar/267006 ^@ NM_000059.3(BRCA2):c.7389_7392delTCAA (p.Asn2463Lysfs) http://identifiers.org/clinvar/267056 ^@ NM_000059.3(BRCA2):c.8160_8196dup37 (p.Asp2733Thrfs) http://identifiers.org/clinvar/267106 ^@ NM_000059.3(BRCA2):c.8777T>A (p.Leu2926Ter) http://identifiers.org/clinvar/267156 ^@ NM_000059.3(BRCA2):c.9354_9355delGT (p.Met3118Ilefs) http://identifiers.org/clinvar/266556 ^@ NM_007294.3(BRCA1):c.5502_5503dupCC (p.Arg1835Profs) http://identifiers.org/clinvar/266506 ^@ NM_007294.3(BRCA1):c.4987_5074del88 (p.Val1665Serfs) http://identifiers.org/clinvar/266456 ^@ NM_007294.3(BRCA1):c.4197delC (p.Met1400Cysfs) http://identifiers.org/clinvar/266406 ^@ NM_007294.3(BRCA1):c.3810C>A (p.Cys1270Ter) http://identifiers.org/clinvar/267225 ^@ NM_000059.3(BRCA2):c.8034_8046delGGATGACACAGCTinsA (p.Asp2679_Ala2682del) http://identifiers.org/clinvar/267364 ^@ NM_017780.3(CHD7):c.8458_8459delCT (p.Leu2820Valfs) http://identifiers.org/clinvar/267427 ^@ NM_017780.3(CHD7):c.3623T>A (p.Val1208Asp) http://identifiers.org/clinvar/267663 ^@ NM_000059.3(BRCA2):c.6899_6906dupAAGAAAAA (p.Ser2303Lysfs) http://identifiers.org/clinvar/267713 ^@ NM_000059.3(BRCA2):c.8972_9097del126 (p.Arg2991_Thr3033delinsPro) http://identifiers.org/clinvar/267563 ^@ NM_007294.3(BRCA1):c.4987-?_5152+?del http://identifiers.org/clinvar/267613 ^@ NM_007294.3(BRCA1):c.671-?_4484+?del http://identifiers.org/clinvar/267513 ^@ NM_007294.3(BRCA1):c.213-?_441+?del http://identifiers.org/clinvar/267792 ^@ NM_006087.3(TUBB4A):c.1164G>A (p.M388I) http://identifiers.org/clinvar/267843 ^@ 46;XX;t(2;8)(q33.1;q24.3)dn http://identifiers.org/clinvar/280609 ^@ NM_006912.5(RIT1):c.365G>T (p.Arg122Leu) http://identifiers.org/clinvar/290884 ^@ NM_001271208.1(NEB):c.4283A>G (p.Asn1428Ser) http://identifiers.org/clinvar/290935 ^@ NM_004006.2(DMD):c.10971G>C (p.Glu3657Asp) http://identifiers.org/clinvar/290985 ^@ NM_003361.3(UMOD):c.1372G>T (p.Val458Leu) http://identifiers.org/clinvar/291186 ^@ NM_005045.3(RELN):c.361G>C (p.Gly121Arg) http://identifiers.org/clinvar/291236 ^@ NM_005529.6(HSPG2):c.4508C>T (p.Ala1503Val) http://identifiers.org/clinvar/291286 ^@ NM_004820.4(CYP7B1):c.629G>A (p.Ser210Asn) http://identifiers.org/clinvar/291401 ^@ NM_001918.3(DBT):c.*5638C>T http://identifiers.org/clinvar/291451 ^@ NM_001918.3(DBT):c.*344G>T http://identifiers.org/clinvar/291501 ^@ NM_015074.3(KIF1B):c.865-10_865-7delCCTT http://identifiers.org/clinvar/291551 ^@ NM_001854.3(COL11A1):c.107-12C>T http://identifiers.org/clinvar/291643 ^@ NM_015074.3(KIF1B):c.*3386C>T http://identifiers.org/clinvar/291743 ^@ NM_007375.3(TARDBP):c.*208G>A http://identifiers.org/clinvar/291601 ^@ NM_015074.3(KIF1B):c.*839C>T http://identifiers.org/clinvar/291843 ^@ NM_003051.3(SLC16A1):c.*739T>G http://identifiers.org/clinvar/291693 ^@ NM_013296.4(GPSM2):c.-426G>A http://identifiers.org/clinvar/292193 ^@ NM_005957.4(MTHFR):c.*2553G>A http://identifiers.org/clinvar/291793 ^@ NM_006610.3(MASP2):c.808A>C (p.Lys270Gln) http://identifiers.org/clinvar/291993 ^@ NM_002506.2(NGF):c.104C>T (p.Ala35Val) http://identifiers.org/clinvar/292093 ^@ NM_138959.2(VANGL1):c.*5633T>G http://identifiers.org/clinvar/292693 ^@ NM_152263.3(TPM3):c.*46C>T http://identifiers.org/clinvar/292443 ^@ NM_005266.6(GJA5):c.*508G>A http://identifiers.org/clinvar/292143 ^@ NM_001232.3(CASQ2):c.-218T>C http://identifiers.org/clinvar/292843 ^@ NM_022367.3(SEMA4A):c.90C>T (p.Thr30=) http://identifiers.org/clinvar/292643 ^@ NM_152263.3(TPM3):c.*4389G>T http://identifiers.org/clinvar/292243 ^@ NM_005957.4(MTHFR):c.781-12T>C http://identifiers.org/clinvar/292743 ^@ NM_001111.4(ADAR):c.*519delA http://identifiers.org/clinvar/292343 ^@ NM_000302.3(PLOD1):c.1902+9G>T http://identifiers.org/clinvar/292293 ^@ NM_000302.3(PLOD1):c.1325G>A (p.Arg442His) http://identifiers.org/clinvar/293243 ^@ NM_000309.3(PPOX):c.-88G>T http://identifiers.org/clinvar/292893 ^@ NM_001012331.1(NTRK1):c.1842C>T (p.Gly614=) http://identifiers.org/clinvar/292393 ^@ NM_014874.3(MFN2):c.*896G>C http://identifiers.org/clinvar/292993 ^@ NM_003126.2(SPTA1):c.3477+10G>C http://identifiers.org/clinvar/292493 ^@ NM_004698.2(PRPF3):c.-139G>A http://identifiers.org/clinvar/292543 ^@ NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu) http://identifiers.org/clinvar/292593 ^@ NM_000449.3(RFX5):c.*1330C>T http://identifiers.org/clinvar/293193 ^@ NM_002857.3(PEX19):c.*2536A>G http://identifiers.org/clinvar/293293 ^@ NM_001643.1(APOA2):c.53-9_53-6dupTGTG http://identifiers.org/clinvar/293393 ^@ NM_004431.4(EPHA2):c.*659T>A http://identifiers.org/clinvar/293493 ^@ NM_005149.2(TBX19):c.*621_*623delCTC http://identifiers.org/clinvar/292793 ^@ NM_000298.5(PKLR):c.*893T>G http://identifiers.org/clinvar/292943 ^@ NM_003126.2(SPTA1):c.6850G>A (p.Asp2284Asn) http://identifiers.org/clinvar/293043 ^@ NM_003126.2(SPTA1):c.1308C>T (p.Leu436=) http://identifiers.org/clinvar/293443 ^@ NM_004431.4(EPHA2):c.606C>T (p.Pro202=) http://identifiers.org/clinvar/294282 ^@ NM_031935.2(HMCN1):c.15018+7T>A http://identifiers.org/clinvar/293343 ^@ NM_003001.3(SDHC):c.*1191A>T http://identifiers.org/clinvar/294382 ^@ NM_003748.3(ALDH4A1):c.1050G>C (p.Ala350=) http://identifiers.org/clinvar/294482 ^@ NM_000186.3(CFH):c.285T>C (p.Thr95=) http://identifiers.org/clinvar/294582 ^@ NM_001994.2(F13B):c.986-4T>C http://identifiers.org/clinvar/294882 ^@ NM_001005337.2(PKP1):c.*2559A>G http://identifiers.org/clinvar/294932 ^@ NM_003465.2(CHIT1):c.382C>T (p.Arg128Cys) http://identifiers.org/clinvar/294832 ^@ NM_001005337.2(PKP1):c.*63G>C http://identifiers.org/clinvar/295032 ^@ NM_032409.2(PINK1):c.*807T>C http://identifiers.org/clinvar/343574 ^@ NM_004628.4(XPC):c.1185G>A (p.Lys395=) http://identifiers.org/clinvar/343674 ^@ NM_031850.3(AGTR1):c.998A>G (p.Asn333Ser) http://identifiers.org/clinvar/343924 ^@ NM_024996.5(GFM1):c.424delG (p.Val142Serfs) http://identifiers.org/clinvar/336805 ^@ NM_002056.3(GFPT1):c.*4259C>T http://identifiers.org/clinvar/336405 ^@ NM_002354.2(EPCAM):c.-111G>A http://identifiers.org/clinvar/336455 ^@ NM_000233.3(LHCGR):c.*148T>C http://identifiers.org/clinvar/336505 ^@ NM_001135659.2(NRXN1):c.*2511G>C http://identifiers.org/clinvar/336555 ^@ NM_001135659.2(NRXN1):c.492C>T (p.Ala164=) http://identifiers.org/clinvar/336655 ^@ NM_001114636.1(FANCL):c.791-10dupT http://identifiers.org/clinvar/336705 ^@ NM_002618.3(PEX13):c.*2989_*2990delAT http://identifiers.org/clinvar/337105 ^@ NM_006302.2(MOGS):c.2032C>T (p.Arg678Trp) http://identifiers.org/clinvar/344624 ^@ NM_000461.4(THRB):c.*670A>G http://identifiers.org/clinvar/345613 ^@ NM_015175.2(NBEAL2):c.123C>G (p.Ser41=) http://identifiers.org/clinvar/337355 ^@ NM_022912.2(REEP1):c.*2371C>T http://identifiers.org/clinvar/337255 ^@ NM_000821.6(GGCX):c.*106T>G http://identifiers.org/clinvar/337305 ^@ NM_198843.2(SFTPB):c.686G>A (p.Arg229Gln) http://identifiers.org/clinvar/346113 ^@ NM_004656.3(BAP1):c.*60C>T http://identifiers.org/clinvar/346213 ^@ NM_003392.4(WNT5A):c.*3721C>T http://identifiers.org/clinvar/346463 ^@ NM_198859.3(PRICKLE2):c.*690G>A http://identifiers.org/clinvar/346513 ^@ NM_000248.3(MITF):c.*447C>A http://identifiers.org/clinvar/346613 ^@ NM_032682.5(FOXP1):c.*1100T>C http://identifiers.org/clinvar/345563 ^@ NM_002222.5(ITPR1):c.474G>A (p.Gly158=) http://identifiers.org/clinvar/342774 ^@ NM_001023570.3(IQCB1):c.1278+7C>T http://identifiers.org/clinvar/342824 ^@ NM_053025.3(MYLK):c.*1671A>T http://identifiers.org/clinvar/346013 ^@ NM_002292.3(LAMB2):c.250-14C>T http://identifiers.org/clinvar/342874 ^@ NM_053025.3(MYLK):c.4289-4C>T http://identifiers.org/clinvar/346163 ^@ NM_052859.3(RFT1):c.*1803T>A http://identifiers.org/clinvar/343074 ^@ NM_025265.3(TSEN2):c.704A>G (p.His235Arg) http://identifiers.org/clinvar/346263 ^@ NM_003392.4(WNT5A):c.*564C>T http://identifiers.org/clinvar/346313 ^@ NM_001457.3(FLNB):c.1628T>C (p.Val543Ala) http://identifiers.org/clinvar/343124 ^@ NM_032638.4(GATA2):c.*427C>T http://identifiers.org/clinvar/343524 ^@ NM_024334.2(TMEM43):c.*806A>C http://identifiers.org/clinvar/343324 ^@ NM_014382.3(ATP2C1):c.782G>A (p.Ser261Asn) http://identifiers.org/clinvar/346563 ^@ NM_032682.5(FOXP1):c.*3413_*3414dupTG http://identifiers.org/clinvar/343374 ^@ NM_153240.4(NPHP3):c.3875A>C (p.Glu1292Ala) http://identifiers.org/clinvar/343424 ^@ NM_001063.3(TF):c.119G>A (p.Ser40Asn) http://identifiers.org/clinvar/343474 ^@ NM_000532.4(PCCB):c.1199-8A>G http://identifiers.org/clinvar/343774 ^@ NM_000096.3(CP):c.1209-15T>A http://identifiers.org/clinvar/343824 ^@ NM_005677.3(COLQ):c.*1292T>G http://identifiers.org/clinvar/343874 ^@ NM_004733.3(SLC33A1):c.1525G>A (p.Gly509Ser) http://identifiers.org/clinvar/343624 ^@ NM_001184.3(ATR):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/361878 ^@ NM_004519.3(KCNQ3):c.1737G>A (p.Thr579=) http://identifiers.org/clinvar/353590 ^@ NM_002310.5(LIFR):c.*1051C>T http://identifiers.org/clinvar/361978 ^@ NM_003235.4(TG):c.5856G>A (p.Arg1952=) http://identifiers.org/clinvar/353740 ^@ NM_002203.3(ITGA2):c.756A>C (p.Thr252=) http://identifiers.org/clinvar/362128 ^@ NM_000497.3(CYP11B1):c.*737C>T http://identifiers.org/clinvar/353840 ^@ NM_002203.3(ITGA2):c.*2999A>G http://identifiers.org/clinvar/353940 ^@ NM_001104631.1(PDE4D):c.*2653C>T http://identifiers.org/clinvar/362328 ^@ NM_006765.3(TUSC3):c.*1193A>G http://identifiers.org/clinvar/354190 ^@ NM_003719.3(PDE8B):c.*496A>G http://identifiers.org/clinvar/354490 ^@ NM_004385.4(VCAN):c.*1266G>C http://identifiers.org/clinvar/362578 ^@ NM_006129.4(BMP1):c.421G>A (p.Gly141Arg) http://identifiers.org/clinvar/362628 ^@ NM_006158.4(NEFL):c.*1100C>T http://identifiers.org/clinvar/354690 ^@ NM_005068.2(SIM1):c.-200delT http://identifiers.org/clinvar/354540 ^@ NM_002890.2(RASA1):c.*572C>A http://identifiers.org/clinvar/354790 ^@ NM_020381.3(PDSS2):c.276C>T (p.His92=) http://identifiers.org/clinvar/354840 ^@ NM_007214.4(SEC63):c.*2811C>T http://identifiers.org/clinvar/354890 ^@ NM_007214.4(SEC63):c.2134T>C (p.Leu712=) http://identifiers.org/clinvar/364317 ^@ NM_000035.3(ALDOB):c.-1C>T http://identifiers.org/clinvar/355830 ^@ NM_033071.3(SYNE1):c.21570A>C (p.Arg7190=) http://identifiers.org/clinvar/364367 ^@ NM_005502.3(ABCA1):c.*395T>A http://identifiers.org/clinvar/355630 ^@ NM_003764.3(STX11):c.*1793A>C http://identifiers.org/clinvar/355880 ^@ NM_033071.3(SYNE1):c.12352G>A (p.Val4118Met) http://identifiers.org/clinvar/355930 ^@ NM_033071.3(SYNE1):c.3521T>C (p.Val1174Ala) http://identifiers.org/clinvar/355730 ^@ NM_203395.2(IYD):c.*2057G>A http://identifiers.org/clinvar/360579 ^@ NM_153033.4(KCTD7):c.-145C>G http://identifiers.org/clinvar/364817 ^@ NM_000177.4(GSN):c.1666G>A (p.Gly556Arg) http://identifiers.org/clinvar/355980 ^@ NM_004562.2(PRKN):c.*2492A>G http://identifiers.org/clinvar/360729 ^@ NM_000941.2(POR):c.*240C>T http://identifiers.org/clinvar/365017 ^@ NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) http://identifiers.org/clinvar/356380 ^@ NM_080680.2(COL11A2):c.*119G>A http://identifiers.org/clinvar/356180 ^@ NM_001080.3(ALDH5A1):c.*2400G>C http://identifiers.org/clinvar/365217 ^@ NM_000113.2(TOR1A):c.*812C>G http://identifiers.org/clinvar/356530 ^@ NM_182548.3(LHFPL5):c.*508_*512delACACAinsTCTCTCTCT http://identifiers.org/clinvar/356580 ^@ NM_001145717.1(PNPLA1):c.*426T>C http://identifiers.org/clinvar/365267 ^@ NM_054012.3(ASS1):c.*225_*228delTTAA http://identifiers.org/clinvar/365417 ^@ NM_000368.4(TSC1):c.*3543C>A http://identifiers.org/clinvar/356630 ^@ NM_005943.5(MOCS1):c.*1301_*1305dupTCCTG http://identifiers.org/clinvar/361469 ^@ NM_001715.2(BLK):c.-165G>T http://identifiers.org/clinvar/356730 ^@ NM_002098.5(GUCA1B):c.*205T>C http://identifiers.org/clinvar/361678 ^@ NM_000127.2(EXT1):c.-667C>G http://identifiers.org/clinvar/356980 ^@ NM_006502.2(POLH):c.*3416G>C http://identifiers.org/clinvar/367257 ^@ NM_138691.2(TMC1):c.1584A>G (p.Thr528=) http://identifiers.org/clinvar/366757 ^@ NM_032634.3(PIGO):c.2065C>T (p.Arg689Cys) http://identifiers.org/clinvar/303309 ^@ NM_152722.4(HEPACAM):c.*419G>C http://identifiers.org/clinvar/367336 ^@ NM_033305.2(VPS13A):c.-232G>C http://identifiers.org/clinvar/367436 ^@ NM_033305.2(VPS13A):c.*185A>G http://identifiers.org/clinvar/303709 ^@ NM_000525.3(KCNJ11):c.*1168G>A http://identifiers.org/clinvar/303759 ^@ NM_000352.4(ABCC8):c.3705T>C (p.Ile1235=) http://identifiers.org/clinvar/367157 ^@ NM_004972.3(JAK2):c.*1337T>C http://identifiers.org/clinvar/367207 ^@ NM_000170.2(GLDC):c.63C>A (p.Arg21=) http://identifiers.org/clinvar/303909 ^@ NM_005566.3(LDHA):c.57C>T (p.Pro19=) http://identifiers.org/clinvar/367386 ^@ NM_033305.2(VPS13A):c.4927G>A (p.Asp1643Asn) http://identifiers.org/clinvar/304059 ^@ NM_000207.2(INS):c.-17-6T>A http://identifiers.org/clinvar/312207 ^@ NM_014252.3(SLC25A15):c.*1737G>A http://identifiers.org/clinvar/367586 ^@ NM_000136.2(FANCC):c.*1359C>G http://identifiers.org/clinvar/312607 ^@ NM_005708.4(GPC6):c.*4236G>A http://identifiers.org/clinvar/367686 ^@ NM_000197.1(HSD17B3):c.-6G>A http://identifiers.org/clinvar/364167 ^@ NM_004612.3(TGFBR1):c.*3382T>G http://identifiers.org/clinvar/313207 ^@ NM_020937.3(FANCM):c.2670T>C (p.Phe890=) http://identifiers.org/clinvar/304798 ^@ NM_004813.2(PEX16):c.-67C>A http://identifiers.org/clinvar/314296 ^@ NM_000428.2(LTBP2):c.2771C>T (p.Ala924Val) http://identifiers.org/clinvar/314346 ^@ NM_001040108.1(MLH3):c.*3140C>T http://identifiers.org/clinvar/305550 ^@ NM_006946.2(SPTBN2):c.5031C>T (p.Ala1677=) http://identifiers.org/clinvar/305750 ^@ NM_007103.3(NDUFV1):c.843T>C (p.His281=) http://identifiers.org/clinvar/305800 ^@ NM_006019.3(TCIRG1):c.1195C>T (p.Leu399=) http://identifiers.org/clinvar/314846 ^@ NM_018319.3(TDP1):c.*539G>A http://identifiers.org/clinvar/314996 ^@ NM_000295.4(SERPINA1):c.*1555C>T http://identifiers.org/clinvar/315046 ^@ NM_177438.2(DICER1):c.*3966C>A http://identifiers.org/clinvar/300320 ^@ NM_001083116.1(PRF1):c.*367G>A http://identifiers.org/clinvar/306050 ^@ NM_005472.4(KCNE3):c.*1383C>T http://identifiers.org/clinvar/300370 ^@ NM_018344.5(SLC29A3):c.1202G>A (p.Arg401His) http://identifiers.org/clinvar/315396 ^@ NM_144599.4(NIPA1):c.*1788G>A http://identifiers.org/clinvar/306263 ^@ NM_024698.5(SLC25A22):c.666G>A (p.Lys222=) http://identifiers.org/clinvar/300570 ^@ NM_004273.4(CHST3):c.*238G>A http://identifiers.org/clinvar/300670 ^@ NM_004273.4(CHST3):c.*4421G>C http://identifiers.org/clinvar/306464 ^@ NM_005591.3(MRE11):c.*1304A>T http://identifiers.org/clinvar/300770 ^@ NM_002658.4(PLAU):c.*398C>T http://identifiers.org/clinvar/300170 ^@ NM_033056.3(PCDH15):c.5450C>T (p.Pro1817Leu) http://identifiers.org/clinvar/300820 ^@ NM_014000.2(VCL):c.*1761A>G http://identifiers.org/clinvar/300870 ^@ NM_012330.3(KAT6B):c.2373+9G>A http://identifiers.org/clinvar/329258 ^@ NM_181882.2(PRX):c.3220G>A (p.Ala1074Thr) http://identifiers.org/clinvar/329358 ^@ NM_000709.3(BCKDHA):c.143T>C (p.Leu48Pro) http://identifiers.org/clinvar/317736 ^@ NM_000246.3(CIITA):c.*314C>A http://identifiers.org/clinvar/317886 ^@ NM_032520.4(GNPTG):c.525A>C (p.Leu175=) http://identifiers.org/clinvar/329908 ^@ NM_024729.3(MYH14):c.842T>C (p.Ile281Thr) http://identifiers.org/clinvar/330308 ^@ NM_000064.3(C3):c.2246-8C>T http://identifiers.org/clinvar/330358 ^@ NM_000208.3(INSR):c.*3877T>C http://identifiers.org/clinvar/311957 ^@ NM_207361.5(FREM2):c.2308G>A (p.Val770Met) http://identifiers.org/clinvar/312007 ^@ NM_207361.5(FREM2):c.6339C>T (p.Pro2113=) http://identifiers.org/clinvar/318777 ^@ NM_173201.3(ATP2A1):c.1722G>A (p.Glu574=) http://identifiers.org/clinvar/312057 ^@ NM_207361.5(FREM2):c.*1666_*1667delTG http://identifiers.org/clinvar/306614 ^@ NM_018979.3(WNK1):c.5968C>T (p.Pro1990Ser) http://identifiers.org/clinvar/312307 ^@ NM_000321.2(RB1):c.*604A>T http://identifiers.org/clinvar/319177 ^@ NM_032444.2(SLX4):c.1415T>C (p.Leu472Ser) http://identifiers.org/clinvar/319327 ^@ NM_000293.2(PHKB):c.77-7delC http://identifiers.org/clinvar/312507 ^@ NM_052910.2(SLITRK1):c.-178A>G http://identifiers.org/clinvar/338094 ^@ NM_015338.5(ASXL1):c.2247C>T (p.Leu749=) http://identifiers.org/clinvar/338294 ^@ NM_000178.3(GSS):c.1253G>A (p.Arg418Gln) http://identifiers.org/clinvar/319678 ^@ NM_001080432.2(FTO):c.45+8G>T http://identifiers.org/clinvar/312657 ^@ NM_001376.4(DYNC1H1):c.12705G>A (p.Pro4235=) http://identifiers.org/clinvar/338344 ^@ NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala) http://identifiers.org/clinvar/319778 ^@ NM_004530.5(MMP2):c.*453C>G http://identifiers.org/clinvar/312707 ^@ NM_022489.3(INF2):c.3190T>C (p.Leu1064=) http://identifiers.org/clinvar/312757 ^@ NM_000270.3(PNP):c.*1386C>T http://identifiers.org/clinvar/338444 ^@ NM_000457.4(HNF4A):c.*572C>A http://identifiers.org/clinvar/338644 ^@ NM_000311.4(PRNP):c.-18C>T http://identifiers.org/clinvar/320078 ^@ NM_001297.4(CNGB1):c.2452C>A (p.Leu818Ile) http://identifiers.org/clinvar/339095 ^@ NM_001001433.2(STX16):c.*2293G>A http://identifiers.org/clinvar/339145 ^@ NM_207034.2(EDN3):c.*585C>T http://identifiers.org/clinvar/312257 ^@ NM_003850.2(SUCLA2):c.*349C>G http://identifiers.org/clinvar/321417 ^@ NM_002386.3(MC1R):c.97G>C (p.Ala33Pro) http://identifiers.org/clinvar/312357 ^@ NM_000053.3(ATP7B):c.*1172G>A http://identifiers.org/clinvar/312407 ^@ NM_000053.3(ATP7B):c.-122G>A http://identifiers.org/clinvar/314146 ^@ NM_031427.3(DNAL1):c.*7310T>C http://identifiers.org/clinvar/340284 ^@ NM_130445.3(COL18A1):c.*342C>G http://identifiers.org/clinvar/312557 ^@ NM_005708.4(GPC6):c.*134A>G http://identifiers.org/clinvar/342135 ^@ NM_001169109.1(SCO2):c.-14+505G>A http://identifiers.org/clinvar/342185 ^@ NM_000487.5(ARSA):c.*2301T>C http://identifiers.org/clinvar/367886 ^@ NM_002351.4(SH2D1A):c.*1689C>A http://identifiers.org/clinvar/368136 ^@ NM_171998.3(RAB39B):c.*1428T>G http://identifiers.org/clinvar/327319 ^@ NM_000140.3(FECH):c.*5349C>T http://identifiers.org/clinvar/327519 ^@ NM_013435.2(RAX):c.*1319C>T http://identifiers.org/clinvar/327569 ^@ NM_005570.3(LMAN1):c.1319A>G (p.Lys440Arg) http://identifiers.org/clinvar/329508 ^@ NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) http://identifiers.org/clinvar/327719 ^@ NM_005912.2(MC4R):c.-178A>C http://identifiers.org/clinvar/329958 ^@ NM_024729.3(MYH14):c.*216T>G http://identifiers.org/clinvar/328069 ^@ NM_000527.4(LDLR):c.*653G>C http://identifiers.org/clinvar/330008 ^@ NM_144687.3(NLRP12):c.2792A>G (p.Glu931Gly) http://identifiers.org/clinvar/330108 ^@ NM_015629.3(PRPF31):c.1297G>A (p.Val433Ile) http://identifiers.org/clinvar/328319 ^@ NM_006563.4(KLF1):c.353G>A (p.Gly118Asp) http://identifiers.org/clinvar/328369 ^@ NM_000435.2(NOTCH3):c.*96C>T http://identifiers.org/clinvar/328419 ^@ NM_000435.2(NOTCH3):c.338G>A (p.Arg113Gln) http://identifiers.org/clinvar/330558 ^@ NM_006949.3(STXBP2):c.1459G>T (p.Val487Leu) http://identifiers.org/clinvar/330608 ^@ NM_030957.3(ADAMTS10):c.834G>A (p.Ser278=) http://identifiers.org/clinvar/329158 ^@ NM_033064.4(ATCAY):c.*313G>A http://identifiers.org/clinvar/338144 ^@ NM_015338.5(ASXL1):c.*1814G>A http://identifiers.org/clinvar/338194 ^@ NM_006892.3(DNMT3B):c.*577C>T http://identifiers.org/clinvar/329308 ^@ NM_003573.2(LTBP4):c.1581G>T (p.Arg527=) http://identifiers.org/clinvar/329408 ^@ NM_152296.4(ATP1A3):c.2139C>G (p.Pro713=) http://identifiers.org/clinvar/329558 ^@ NM_025136.3(OPA3):c.*6767G>A http://identifiers.org/clinvar/338594 ^@ NM_030777.3(SLC2A10):c.920T>A (p.Met307Lys) http://identifiers.org/clinvar/329658 ^@ NM_025136.3(OPA3):c.*1254A>C http://identifiers.org/clinvar/329708 ^@ NM_000554.5(CRX):c.*400A>T http://identifiers.org/clinvar/338795 ^@ NM_000782.4(CYP24A1):c.*838T>G http://identifiers.org/clinvar/329758 ^@ NM_000554.5(CRX):c.*2183T>C http://identifiers.org/clinvar/338845 ^@ NM_000782.4(CYP24A1):c.-118T>C http://identifiers.org/clinvar/338945 ^@ NM_004738.4(VAPB):c.*1168G>A http://identifiers.org/clinvar/339045 ^@ NM_001001433.2(STX16):c.141C>T (p.Asp47=) http://identifiers.org/clinvar/339195 ^@ NM_017671.4(FERMT1):c.*730C>T http://identifiers.org/clinvar/330058 ^@ NM_002739.4(PRKCG):c.285C>T (p.Asp95=) http://identifiers.org/clinvar/339245 ^@ NM_017671.4(FERMT1):c.-215G>A http://identifiers.org/clinvar/330408 ^@ NM_000208.3(INSR):c.*1191T>C http://identifiers.org/clinvar/330508 ^@ NM_006702.4(PNPLA6):c.-122G>A http://identifiers.org/clinvar/338044 ^@ NM_033118.3(MYLK2):c.891G>C (p.Gly297=) http://identifiers.org/clinvar/338544 ^@ NM_004994.2(MMP9):c.45C>T (p.Gly15=) http://identifiers.org/clinvar/340735 ^@ NM_014339.6(IL17RA):c.*5677C>A http://identifiers.org/clinvar/338694 ^@ NM_006420.2(ARFGEF2):c.2831A>T (p.Tyr944Phe) http://identifiers.org/clinvar/340785 ^@ NM_017929.5(PEX26):c.*1194G>A http://identifiers.org/clinvar/340885 ^@ NM_004782.3(SNAP29):c.*2564dupA http://identifiers.org/clinvar/340935 ^@ NM_016327.2(UPB1):c.889G>A (p.Glu297Lys) http://identifiers.org/clinvar/338895 ^@ NM_002591.3(PCK1):c.1735A>C (p.Ser579Arg) http://identifiers.org/clinvar/340985 ^@ NM_022081.5(HPS4):c.*1229C>T http://identifiers.org/clinvar/339295 ^@ NM_001853.3(COL9A3):c.1511C>T (p.Pro504Leu) http://identifiers.org/clinvar/339345 ^@ NM_025219.2(DNAJC5):c.-166_-161dupCTGCCG http://identifiers.org/clinvar/341335 ^@ NM_000362.4(TIMP3):c.-407G>A http://identifiers.org/clinvar/341435 ^@ NM_004737.5(LARGE1):c.857G>A (p.Arg286His) http://identifiers.org/clinvar/341835 ^@ NM_001429.3(EP300):c.*137C>T http://identifiers.org/clinvar/341885 ^@ NM_000262.2(NAGA):c.*1929C>T http://identifiers.org/clinvar/390975 ^@ NM_000368.4(TSC1):c.2034C>T (p.His678=) http://identifiers.org/clinvar/385787 ^@ NM_000093.4(COL5A1):c.408C>T (p.Pro136=) http://identifiers.org/clinvar/393164 ^@ NM_018238.3(AGK):c.33C>A (p.His11Gln) http://identifiers.org/clinvar/384136 ^@ NM_020822.2(KCNT1):c.1008C>T (p.Cys336=) http://identifiers.org/clinvar/383335 ^@ NM_005097.3(LGI1):c.756C>T (p.Ile252=) http://identifiers.org/clinvar/386676 ^@ NM_015631.5(TCTN3):c.1764C>T (p.Val588=) http://identifiers.org/clinvar/391525 ^@ NM_017617.4(NOTCH1):c.6396G>C (p.Thr2132=) http://identifiers.org/clinvar/391275 ^@ NM_005188.3(CBL):c.1443G>T (p.Pro481=) http://identifiers.org/clinvar/379299 ^@ NM_005422.2(TECTA):c.5941T>A (p.Tyr1981Asn) http://identifiers.org/clinvar/392814 ^@ NM_001909.4(CTSD):c.-40C>T http://identifiers.org/clinvar/384987 ^@ NM_033087.3(ALG2):c.-11G>C http://identifiers.org/clinvar/390675 ^@ NM_002180.2(IGHMBP2):c.2344G>A (p.Val782Met) http://identifiers.org/clinvar/378849 ^@ NM_014000.2(VCL):c.1177-5T>C http://identifiers.org/clinvar/380640 ^@ NM_006231.3(POLE):c.*18G>T http://identifiers.org/clinvar/379249 ^@ NM_000051.3(ATM):c.8786+20G>C http://identifiers.org/clinvar/386826 ^@ NM_006231.3(POLE):c.285+13C>A http://identifiers.org/clinvar/379049 ^@ NM_174934.3(SCN4B):c.-27C>G http://identifiers.org/clinvar/381042 ^@ NM_000256.3(MYBPC3):c.2409C>A (p.Ile803=) http://identifiers.org/clinvar/393114 ^@ NM_024312.4(GNPTAB):c.2119G>A (p.Ala707Thr) http://identifiers.org/clinvar/380791 ^@ NM_001478.4(B4GALNT1):c.514G>C (p.Gly172Arg) http://identifiers.org/clinvar/385387 ^@ NM_004517.3(ILK):c.1197G>A (p.Glu399=) http://identifiers.org/clinvar/384687 ^@ NM_144670.5(A2ML1):c.186C>T (p.Thr62=) http://identifiers.org/clinvar/385187 ^@ NM_006231.3(POLE):c.3582+16C>T http://identifiers.org/clinvar/380891 ^@ NM_014844.4(TECPR2):c.2047A>G (p.Ile683Val) http://identifiers.org/clinvar/390025 ^@ NM_001003800.1(BICD2):c.861C>T (p.Asp287=) http://identifiers.org/clinvar/385437 ^@ NM_002225.3(IVD):c.273C>T (p.Gly91=) http://identifiers.org/clinvar/390425 ^@ NM_002225.3(IVD):c.1075-10C>T http://identifiers.org/clinvar/380540 ^@ NM_000059.3(BRCA2):c.4926T>C (p.Asn1642=) http://identifiers.org/clinvar/381192 ^@ NM_003480.3(MFAP5):c.59-4A>T http://identifiers.org/clinvar/379149 ^@ NM_014000.2(VCL):c.1176+20G>A http://identifiers.org/clinvar/392664 ^@ NM_002860.3(ALDH18A1):c.754C>T (p.Arg252Ter) http://identifiers.org/clinvar/385337 ^@ NM_000051.3(ATM):c.4332G>C (p.Leu1444=) http://identifiers.org/clinvar/391025 ^@ NM_005050.3(ABCD4):c.1507-18C>T http://identifiers.org/clinvar/390625 ^@ NM_004239.4(TRIP11):c.5057-9T>G http://identifiers.org/clinvar/384236 ^@ NM_032374.4(APOPT1):c.515+19C>T http://identifiers.org/clinvar/384637 ^@ NM_000548.4(TSC2):c.5259+9T>C http://identifiers.org/clinvar/381342 ^@ NM_000257.3(MYH7):c.-78C>T http://identifiers.org/clinvar/378749 ^@ NM_001018005.1(TPM1):c.563+7G>A http://identifiers.org/clinvar/385737 ^@ NM_005477.2(HCN4):c.1560G>A (p.Leu520=) http://identifiers.org/clinvar/390475 ^@ NM_021098.2(CACNA1H):c.379G>T (p.Glu127Ter) http://identifiers.org/clinvar/390725 ^@ NM_000138.4(FBN1):c.1530G>A (p.Ser510=) http://identifiers.org/clinvar/391125 ^@ NM_006231.3(POLE):c.3582+20G>T http://identifiers.org/clinvar/48043 ^@ NM_170707.3(LMNA):c.1566C>T (p.Cys522=) http://identifiers.org/clinvar/48093 ^@ NM_170707.3(LMNA):c.949G>A (p.Glu317Lys) http://identifiers.org/clinvar/48143 ^@ NM_001195794.1(CLRN1):c.142A>G (p.Asn48Asp) http://identifiers.org/clinvar/48193 ^@ NM_194248.2(OTOF):c.2370_2371insA (p.Asp791Argfs) http://identifiers.org/clinvar/48243 ^@ NM_194248.2(OTOF):c.4878C>T (p.Asp1626=) http://identifiers.org/clinvar/48394 ^@ NM_206933.2(USH2A):c.12294+1G>C http://identifiers.org/clinvar/48444 ^@ NM_206933.2(USH2A):c.14543G>A (p.Arg4848Gln) http://identifiers.org/clinvar/100 ^@ NM_000355.3(TCN2):c.580+624A>T http://identifiers.org/clinvar/627 ^@ NM_000277.1(PAH):c.293T>C (p.Leu98Ser) http://identifiers.org/clinvar/636 ^@ NM_000277.1(PAH):c.194T>C (p.Ile65Thr) http://identifiers.org/clinvar/645 ^@ NM_000130.4(F5):c.439G>T (p.Glu147Ter) http://identifiers.org/clinvar/877 ^@ NM_000046.3(ARSB):c.410G>T (p.Gly137Val) http://identifiers.org/clinvar/886 ^@ NM_000046.3(ARSB):c.1178A>C (p.His393Pro) http://identifiers.org/clinvar/918 ^@ CA2, IVS2DS, G-A, +1 http://identifiers.org/clinvar/1009 ^@ NM_001031710.2(KLHL7):c.458C>T (p.Ala153Val) http://identifiers.org/clinvar/1018 ^@ NM_014049.4(ACAD9):c.-44_-41dupTAAG http://identifiers.org/clinvar/1027 ^@ NM_020223.3(FAM20C):c.1136G>A (p.Gly379Glu) http://identifiers.org/clinvar/1036 ^@ CCDC50, 8-BP DUP, NT1394 http://identifiers.org/clinvar/1140 ^@ NM_022369.3(STRA6):c.527dupG (p.Ser177Glnfs) http://identifiers.org/clinvar/1180 ^@ CYP11B1, 954G-A http://identifiers.org/clinvar/1225 ^@ NM_032985.4(SEC23B):c.790C>T (p.Arg264Ter) http://identifiers.org/clinvar/1276 ^@ NM_173660.4(DOK7):c.1339_1342dupCTGG (p.Gly448Alafs) http://identifiers.org/clinvar/1320 ^@ NM_001174089.1(SLC4A11):c.2078G>A (p.Gly693Glu) http://identifiers.org/clinvar/1366 ^@ NM_153704.5(TMEM67):c.648delA (p.Val217Leufs) http://identifiers.org/clinvar/1411 ^@ NM_031955.5(SPATA16):c.848G>A (p.Arg283Gln) http://identifiers.org/clinvar/1457 ^@ NM_000190.3(HMBS):c.500G>T (p.Arg167Leu) http://identifiers.org/clinvar/1501 ^@ NM_004035.6(ACOX1):c.926A>G (p.Gln309Arg) http://identifiers.org/clinvar/1548 ^@ NM_000237.2(LPL):c.808C>T (p.Arg270Cys) http://identifiers.org/clinvar/1593 ^@ NM_001127255.1(NLRP7):c.1951C>T (p.Pro651Ser) http://identifiers.org/clinvar/1642 ^@ NM_000382.2(ALDH3A2):c.1307_1311dupACAAA (p.Leu438Thrfs) http://identifiers.org/clinvar/1688 ^@ NM_000528.3(MAN2B1):c.1067C>G (p.Pro356Arg) http://identifiers.org/clinvar/1733 ^@ NM_015634.3(KIF1BP):c.268C>T (p.Arg90Ter) http://identifiers.org/clinvar/1784 ^@ CYP17A1, 1-BP DEL http://identifiers.org/clinvar/1829 ^@ NM_005767.5(LPAR6):c.565G>A (p.Glu189Lys) http://identifiers.org/clinvar/1874 ^@ NM_020376.3(PNPLA2):c.584C>T (p.Pro195Leu) http://identifiers.org/clinvar/1919 ^@ NM_022132.4(MCCC2):c.517dupT (p.Ser173Phefs) http://identifiers.org/clinvar/10224 ^@ NM_000132.3(F8):c.1648C>G (p.Arg550Gly) http://identifiers.org/clinvar/10314 ^@ NM_000132.3(F8):c.6533G>T (p.Arg2178Leu) http://identifiers.org/clinvar/10948 ^@ NM_001205019.1(GK):c.880A>G (p.Asn294Asp) http://identifiers.org/clinvar/10994 ^@ NM_000531.5(OTC):c.137A>G (p.Lys46Arg) http://identifiers.org/clinvar/11038 ^@ NM_001399.4(EDA):c.626C>T (p.Pro209Leu) http://identifiers.org/clinvar/11083 ^@ NM_001128834.2(PLP1):c.661G>T (p.Gly221Cys) http://identifiers.org/clinvar/11128 ^@ WAS, 15,800-BP DEL http://identifiers.org/clinvar/11174 ^@ EMD, 2-BP INS, NT198 http://identifiers.org/clinvar/11219 ^@ DMD, EX18DEL http://identifiers.org/clinvar/11264 ^@ DMD, 1-BP INS, 7188A http://identifiers.org/clinvar/11309 ^@ ABCD1, 2-BP DEL, 2177TA http://identifiers.org/clinvar/11355 ^@ NM_000061.2(BTK):c.310-2A>G http://identifiers.org/clinvar/12274 ^@ NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln) http://identifiers.org/clinvar/12326 ^@ NM_199292.2(TH):c.1481C>T (p.Thr494Met) http://identifiers.org/clinvar/12377 ^@ NM_000546.5(TP53):c.532delC (p.His178Thrfs) http://identifiers.org/clinvar/12428 ^@ NM_000363.4(TNNI3):c.431T>A (p.Leu144Gln) http://identifiers.org/clinvar/12479 ^@ TGM1, IVS5, A-G, -2 http://identifiers.org/clinvar/12529 ^@ NM_000660.6(TGFB1):c.653G>A (p.Arg218His) http://identifiers.org/clinvar/12579 ^@ NM_033360.3(KRAS):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/12630 ^@ NM_021961.5(TEAD1):c.1261T>C (p.Tyr?His) http://identifiers.org/clinvar/12680 ^@ NM_000362.4(TIMP3):c.484G>T (p.Glu162Ter) http://identifiers.org/clinvar/12732 ^@ NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) http://identifiers.org/clinvar/12782 ^@ NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs) http://identifiers.org/clinvar/12832 ^@ NM_000347.5(SPTB):c.6220_6269del50 http://identifiers.org/clinvar/12883 ^@ NM_006920.4(SCN1A):c.2591C>T (p.Thr864Met) http://identifiers.org/clinvar/36670 ^@ NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) http://identifiers.org/clinvar/36722 ^@ NM_020630.4(RET):c.1264-55dupG http://identifiers.org/clinvar/36775 ^@ NM_000451.3(SHOX):c.400C>A (p.Arg134=) http://identifiers.org/clinvar/36825 ^@ NM_000545.6(HNF1A):c.666_668delGAA (p.Lys222del) http://identifiers.org/clinvar/36875 ^@ NM_003276.2(TMPO):c.713T>G (p.Leu238Arg) http://identifiers.org/clinvar/36942 ^@ NM_007078.2(LDB3):c.1051A>G (p.Thr351Ala) http://identifiers.org/clinvar/37038 ^@ NM_001065.3(TNFRSF1A):c.625+10A>G http://identifiers.org/clinvar/37237 ^@ CFHR5, 1-BP INS, 485A http://identifiers.org/clinvar/37316 ^@ NM_005340.6(HINT1):c.152A>G (p.His51Arg) http://identifiers.org/clinvar/37400 ^@ NM_007294.3(BRCA1):c.134+5G>C http://identifiers.org/clinvar/37452 ^@ NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu) http://identifiers.org/clinvar/37506 ^@ NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys) http://identifiers.org/clinvar/39531 ^@ NM_000359.2(TGM1):c.944G>T (p.Arg315Leu) http://identifiers.org/clinvar/39581 ^@ NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) http://identifiers.org/clinvar/39633 ^@ CHD8, 1-BP INS, T http://identifiers.org/clinvar/39685 ^@ NM_006383.3(CIB2):c.272T>C (p.Phe91Ser) http://identifiers.org/clinvar/39735 ^@ AAGAB, 1-BP DEL, NT473 http://identifiers.org/clinvar/39786 ^@ NM_003036.3(SKI):c.103C>T (p.Pro35Ser) http://identifiers.org/clinvar/39837 ^@ NM_002768.4(CHMP1A):c.88C>T (p.Gln30Ter) http://identifiers.org/clinvar/39980 ^@ NM_020964.2(EPG5):c.4588C>T (p.Gln1530Ter) http://identifiers.org/clinvar/40092 ^@ NM_020774.3(MIB1):c.1588C>T (p.Arg530Ter) http://identifiers.org/clinvar/40244 ^@ NM_000138.4(FBN1):c.8156_8175del20 (p.Lys2719Thrfs) http://identifiers.org/clinvar/40373 ^@ NM_004333.4(BRAF):c.1502A>C (p.Glu501Ala) http://identifiers.org/clinvar/40440 ^@ NM_005343.3(HRAS):c.309G>A (p.Val103=) http://identifiers.org/clinvar/40508 ^@ NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) http://identifiers.org/clinvar/51694 ^@ NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) http://identifiers.org/clinvar/51745 ^@ NM_000059.3(BRCA2):c.4935delA (p.Glu1646Lysfs) http://identifiers.org/clinvar/51797 ^@ NM_000059.3(BRCA2):c.517-11T>C http://identifiers.org/clinvar/51849 ^@ NM_000059.3(BRCA2):c.5389_5390delGC (p.Ala1797Lysfs) http://identifiers.org/clinvar/51901 ^@ NM_000059.3(BRCA2):c.5660C>T (p.Thr1887Met) http://identifiers.org/clinvar/51953 ^@ NM_000059.3(BRCA2):c.5857delG (p.Glu1953Lysfs) http://identifiers.org/clinvar/52005 ^@ NM_000059.3(BRCA2):c.6079dupA (p.Arg2027Lysfs) http://identifiers.org/clinvar/52056 ^@ NM_000059.3(BRCA2):c.631+4A>G http://identifiers.org/clinvar/52110 ^@ NM_000059.3(BRCA2):c.6461A>C (p.Tyr2154Ser) http://identifiers.org/clinvar/52161 ^@ NM_000059.3(BRCA2):c.67+1G>T http://identifiers.org/clinvar/52211 ^@ NM_000059.3(BRCA2):c.6842-19_6842-18delAT http://identifiers.org/clinvar/52262 ^@ NM_000059.3(BRCA2):c.7067_7068delTT (p.Phe2356Serfs) http://identifiers.org/clinvar/52313 ^@ NM_000059.3(BRCA2):c.7366C>G (p.Gln2456Glu) http://identifiers.org/clinvar/52363 ^@ NM_000059.3(BRCA2):c.7617+1G>T http://identifiers.org/clinvar/52414 ^@ NM_000059.3(BRCA2):c.7805+8A>G http://identifiers.org/clinvar/52464 ^@ NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=) http://identifiers.org/clinvar/52514 ^@ NM_000059.3(BRCA2):c.8162T>G (p.Leu2721Arg) http://identifiers.org/clinvar/52615 ^@ NM_000059.3(BRCA2):c.8535_8538delAGAG (p.Glu2846Lysfs) http://identifiers.org/clinvar/52920 ^@ NM_000059.3(BRCA2):c.992A>T (p.Lys331Ile) http://identifiers.org/clinvar/52970 ^@ NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) http://identifiers.org/clinvar/53980 ^@ NM_000492.3(CFTR):c.4C>T (p.Gln2Ter) http://identifiers.org/clinvar/54030 ^@ NM_000492.3(CFTR):c.625G>T (p.Ala209Ser) http://identifiers.org/clinvar/54082 ^@ NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/54132 ^@ NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg) http://identifiers.org/clinvar/54182 ^@ NM_007294.3(BRCA1):c.1265dupA (p.Tyr422Terfs) http://identifiers.org/clinvar/54232 ^@ NM_007294.3(BRCA1):c.1386delG (p.Thr464Profs) http://identifiers.org/clinvar/54283 ^@ NM_007294.3(BRCA1):c.1519A>T (p.Arg507Ter) http://identifiers.org/clinvar/54333 ^@ NM_007294.3(BRCA1):c.1716dupA (p.Ser573Ilefs) http://identifiers.org/clinvar/54384 ^@ NM_007294.3(BRCA1):c.1893A>G (p.Leu631=) http://identifiers.org/clinvar/54434 ^@ NM_007294.3(BRCA1):c.2012_2013dupGT (p.Lys672Valfs) http://identifiers.org/clinvar/54484 ^@ NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs) http://identifiers.org/clinvar/54534 ^@ NM_007294.3(BRCA1):c.2322T>A (p.Gly774=) http://identifiers.org/clinvar/54584 ^@ NM_007294.3(BRCA1):c.2487delT (p.Phe829Leufs) http://identifiers.org/clinvar/54634 ^@ NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg) http://identifiers.org/clinvar/54684 ^@ NM_007294.3(BRCA1):c.2805delA (p.Asp936Ilefs) http://identifiers.org/clinvar/54734 ^@ NM_007294.3(BRCA1):c.2968G>A (p.Val990Ile) http://identifiers.org/clinvar/54784 ^@ NM_007294.3(BRCA1):c.3157dupG (p.Glu1053Glyfs) http://identifiers.org/clinvar/54834 ^@ NM_007294.3(BRCA1):c.3313C>A (p.His1105Asn) http://identifiers.org/clinvar/54884 ^@ NM_007294.3(BRCA1):c.3432G>T (p.Gln1144His) http://identifiers.org/clinvar/54934 ^@ NM_007294.3(BRCA1):c.3607C>G (p.Arg1203Gly) http://identifiers.org/clinvar/54986 ^@ NM_007294.3(BRCA1):c.3746C>G (p.Thr1249Ser) http://identifiers.org/clinvar/55037 ^@ NM_007294.3(BRCA1):c.3880_3883delAGCT (p.Ser1294Cysfs) http://identifiers.org/clinvar/55088 ^@ NM_007294.3(BRCA1):c.4052dupT (p.Leu1351Phefs) http://identifiers.org/clinvar/55139 ^@ NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter) http://identifiers.org/clinvar/55189 ^@ NM_007294.3(BRCA1):c.4391dupC (p.Ile1465Tyrfs) http://identifiers.org/clinvar/56153 ^@ NM_000243.2(MEFV):c.866C>A (p.Ala289Glu) http://identifiers.org/clinvar/56204 ^@ NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) http://identifiers.org/clinvar/56255 ^@ NM_001042432.1(CLN3):c.1268C>A (p.Ser423Ter) http://identifiers.org/clinvar/56305 ^@ NM_001080522.2(CC2D2A):c.3399-3C>A http://identifiers.org/clinvar/56615 ^@ NM_017777.3(MKS1):c.1407+2delT http://identifiers.org/clinvar/56668 ^@ NM_017890.4(VPS13B):c.467_470delATAA (p.Asn156Ilefs) http://identifiers.org/clinvar/56718 ^@ NM_018941.3(CLN8):c.66delG (p.Ile23Serfs) http://identifiers.org/clinvar/56768 ^@ NM_153704.5(TMEM67):c.1538_1539delAT (p.Tyr513Terfs) http://identifiers.org/clinvar/56901 ^@ NM_005664.3(MKRN3):c.637delC (p.Arg213Glyfs) http://identifiers.org/clinvar/57028 ^@ GRCh38/hg38 3p26.1(chr3:6476154-7285494)x3 http://identifiers.org/clinvar/57083 ^@ GRCh38/hg38 2p24.3(chr2:13383787-14257839)x1 http://identifiers.org/clinvar/57137 ^@ GRCh38/hg38 4q35.2(chr4:188831734-189158143)x3 http://identifiers.org/clinvar/57188 ^@ GRCh38/hg38 20p13(chr20:89939-1360110)x1 http://identifiers.org/clinvar/57241 ^@ GRCh38/hg38 1p35.1-34.3(chr1:33564892-34725930)x3 http://identifiers.org/clinvar/57294 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 http://identifiers.org/clinvar/57347 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 http://identifiers.org/clinvar/57399 ^@ GRCh38/hg38 10q26.3(chr10:131063816-131761750)x3 http://identifiers.org/clinvar/101166 ^@ NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp) http://identifiers.org/clinvar/101216 ^@ NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del) http://identifiers.org/clinvar/101266 ^@ NM_000090.3(COL3A1):c.2122_2148del27 (p.Pro712_Gly720del) http://identifiers.org/clinvar/101316 ^@ NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser) http://identifiers.org/clinvar/101366 ^@ NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu) http://identifiers.org/clinvar/101416 ^@ NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val) http://identifiers.org/clinvar/101466 ^@ NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) http://identifiers.org/clinvar/101527 ^@ NM_001013703.3(EIF2AK4):c.1153dupG (p.Val385Glyfs) http://identifiers.org/clinvar/102479 ^@ NM_000277.1(PAH):c.1030G>A (p.Gly344Ser) http://identifiers.org/clinvar/102535 ^@ NM_000277.1(PAH):c.1132A>T (p.Thr378Ser) http://identifiers.org/clinvar/102588 ^@ NM_000277.1(PAH):c.1315+2T>C http://identifiers.org/clinvar/102642 ^@ NM_000277.1(PAH):c.266dupC (p.Ala90Cysfs) http://identifiers.org/clinvar/102694 ^@ NM_000277.1(PAH):c.473G>C (p.Arg158Pro) http://identifiers.org/clinvar/102744 ^@ NM_000277.1(PAH):c.58C>T (p.Gln20Ter) http://identifiers.org/clinvar/102795 ^@ NM_000277.1(PAH):c.707-7A>T http://identifiers.org/clinvar/102845 ^@ NM_000277.1(PAH):c.808A>G (p.Arg270Gly) http://identifiers.org/clinvar/102897 ^@ NM_000277.1(PAH):c.926C>A (p.Ala309Asp) http://identifiers.org/clinvar/102955 ^@ NM_000246.3(CIITA):c.-479C>T http://identifiers.org/clinvar/103005 ^@ NM_000246.3(CIITA):c.3150-77A>C http://identifiers.org/clinvar/103055 ^@ NM_001174081.2(NLRP2):c.2201+456G>A http://identifiers.org/clinvar/125659 ^@ NM_007294.3(BRCA1):c.3958T>C (p.Ser1320Pro) http://identifiers.org/clinvar/125791 ^@ NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro) http://identifiers.org/clinvar/125859 ^@ NM_007294.3(BRCA1):c.441+3A>G http://identifiers.org/clinvar/125921 ^@ BRCA2: exon 2 deletion http://identifiers.org/clinvar/125984 ^@ NM_000059.3(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu) http://identifiers.org/clinvar/126049 ^@ NM_000059.3(BRCA2):c.4563_4564delAT (p.Leu1522Glyfs) http://identifiers.org/clinvar/126123 ^@ NM_000059.3(BRCA2):c.6842-30_6842-3del28 http://identifiers.org/clinvar/126243 ^@ NM_001080522.2(CC2D2A):c.4065+28A>T http://identifiers.org/clinvar/126293 ^@ NM_024809.4(TCTN2):c.891+22T>C http://identifiers.org/clinvar/126344 ^@ NM_003070.4(SMARCA2):c.177G>A (p.Thr59=) http://identifiers.org/clinvar/126400 ^@ NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met) http://identifiers.org/clinvar/126468 ^@ NM_021625.4(TRPV4):c.1774T>C (p.Phe592Leu) http://identifiers.org/clinvar/126531 ^@ NM_152305.2(POGLUT1):c.835dupC (p.Arg279Profs) http://identifiers.org/clinvar/126605 ^@ NM_024675.3(PALB2):c.1475G>T (p.Gly492Val) http://identifiers.org/clinvar/126657 ^@ PALB2:c.2515-1G>T http://identifiers.org/clinvar/126707 ^@ NM_024675.3(PALB2):c.3048delT (p.Phe1016Leufs) http://identifiers.org/clinvar/126758 ^@ NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) http://identifiers.org/clinvar/126809 ^@ NM_000321.2(RB1):c.305_306delGT (p.Cys102Tyrfs) http://identifiers.org/clinvar/126861 ^@ NM_004996.3(ABCC1):c.2461-1217G>A http://identifiers.org/clinvar/126918 ^@ NM_001127464.2(ZNF469):c.11101G>A (p.Gly3701Ser) http://identifiers.org/clinvar/126968 ^@ NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/127018 ^@ NM_005591.3(MRE11):c.*1933G>T http://identifiers.org/clinvar/127070 ^@ NM_001001430.2(TNNT2):c.400C>T (p.Arg134Trp) http://identifiers.org/clinvar/127139 ^@ NM_006785.3(MALT1):c.1739G>C (p.Trp580Ser) http://identifiers.org/clinvar/127238 ^@ NM_022166.3(XYLT1):c.1588-3C>T http://identifiers.org/clinvar/127292 ^@ NM_000038.5(APC):c.3970C>G (p.Pro1324Ala) http://identifiers.org/clinvar/127342 ^@ NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) http://identifiers.org/clinvar/127593 ^@ NM_000179.2(MSH6):c.3788G>A (p.Arg1263His) http://identifiers.org/clinvar/127644 ^@ NM_000251.2(MSH2):c.382C>G (p.Leu128Val) http://identifiers.org/clinvar/127703 ^@ NM_000455.4(STK11):c.465-4G>A http://identifiers.org/clinvar/127804 ^@ NM_000546.5(TP53):c.173C>G (p.Pro58Arg) http://identifiers.org/clinvar/159948 ^@ NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) http://identifiers.org/clinvar/161300 ^@ NM_000251.2(MSH2):c.2203A>G (p.Ile735Val) http://identifiers.org/clinvar/161401 ^@ NM_000551.3(VHL):c.538A>G (p.Ile180Val) http://identifiers.org/clinvar/161350 ^@ NM_000313.3(PROS1):c.1594A>G (p.Thr532Ala) http://identifiers.org/clinvar/161769 ^@ NM_024603.3(BEND5):c.1210A>G (p.Ile404Val) http://identifiers.org/clinvar/161569 ^@ NM_001204397.1(PITX2):c.559G>A (p.Ala187Thr) http://identifiers.org/clinvar/161469 ^@ NM_000506.4(F2):c.734delT (p.Leu245Argfs) http://identifiers.org/clinvar/161619 ^@ NM_004054.3(C3AR1):c.1148T>C (p.Val383Ala) http://identifiers.org/clinvar/161519 ^@ NM_001127258.2(HHIPL1):c.1471G>C (p.Gly491Arg) http://identifiers.org/clinvar/161819 ^@ NM_152868.2(KCNJ4):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/161982 ^@ NM_000760.3(CSF3R):c.922C>T (p.Arg308Cys) http://identifiers.org/clinvar/162049 ^@ NM_021830.4(TWNK):c.1754A>G (p.Asn585Ser) http://identifiers.org/clinvar/162109 ^@ NM_005211.3(CSF1R):c.1699delA (p.Thr567Argfs) http://identifiers.org/clinvar/162168 ^@ NC_000006.12:g.43858890C>T http://identifiers.org/clinvar/162380 ^@ NM_152778.2(MFSD8):c.1102G>C (p.Asp368His) http://identifiers.org/clinvar/162460 ^@ NM_014305.3(TGDS):c.892A>G (p.Asn298Asp) http://identifiers.org/clinvar/162514 ^@ NM_005360.4(MAF):c.173C>T (p.Thr58Ile) http://identifiers.org/clinvar/162595 ^@ NM_013382.5(POMT2):c.1183+14A>G http://identifiers.org/clinvar/166458 ^@ NM_206933.2(USH2A):c.10062G>C (p.Val3354=) http://identifiers.org/clinvar/179588 ^@ NM_133378.4(TTN):c.60547A>C (p.Asn20183His) http://identifiers.org/clinvar/179038 ^@ NM_133378.4(TTN):c.85102G>A (p.Val28368Ile) http://identifiers.org/clinvar/178219 ^@ NM_133379.4(TTN):c.*265+110089A>G http://identifiers.org/clinvar/179188 ^@ NM_133378.4(TTN):c.32631C>T (p.Leu10877=) http://identifiers.org/clinvar/166092 ^@ NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) http://identifiers.org/clinvar/166231 ^@ NM_133432.3(TTN):c.12885A>G (p.Glu4295=) http://identifiers.org/clinvar/166281 ^@ NM_001256850.1(TTN):c.10360+1644T>C http://identifiers.org/clinvar/179288 ^@ NM_001256850.1(TTN):c.20328A>G (p.Thr6776=) http://identifiers.org/clinvar/178837 ^@ NM_133378.4(TTN):c.14020C>A (p.Pro4674Thr) http://identifiers.org/clinvar/179638 ^@ NM_133378.4(TTN):c.11765-8T>C http://identifiers.org/clinvar/178269 ^@ NM_133378.4(TTN):c.8314G>A (p.Val2772Met) http://identifiers.org/clinvar/166331 ^@ NM_133378.4(TTN):c.3070G>A (p.Val1024Ile) http://identifiers.org/clinvar/163024 ^@ NM_001927.3(DES):c.250G>A (p.Gly84Ser) http://identifiers.org/clinvar/163149 ^@ NM_001369.2(DNAH5):c.5115-5T>C http://identifiers.org/clinvar/165975 ^@ NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) http://identifiers.org/clinvar/179338 ^@ NM_198056.2(SCN5A):c.3995delC (p.Pro1332Argfs) http://identifiers.org/clinvar/179238 ^@ NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) http://identifiers.org/clinvar/178737 ^@ NM_001277115.1(DNAH11):c.12509C>T (p.Thr4170Ile) http://identifiers.org/clinvar/163099 ^@ NM_001277115.1(DNAH11):c.2166A>G (p.Pro722=) http://identifiers.org/clinvar/201205 ^@ NM_001035.2(RYR2):c.893G>A (p.Arg298His) http://identifiers.org/clinvar/201148 ^@ NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) http://identifiers.org/clinvar/201931 ^@ NM_144573.3(NEXN):c.1733G>C (p.Arg578Thr) http://identifiers.org/clinvar/201712 ^@ NM_001927.3(DES):c.154C>A (p.Arg52Ser) http://identifiers.org/clinvar/202044 ^@ NM_001134363.2(RBM20):c.1603G>A (p.Val535Ile) http://identifiers.org/clinvar/201875 ^@ NM_032578.3(MYPN):c.3493+15_3493+20delTGGGAC http://identifiers.org/clinvar/202162 ^@ NM_014000.2(VCL):c.1819A>C (p.Lys607Gln) http://identifiers.org/clinvar/201655 ^@ NM_014391.2(ANKRD1):c.346-20_346-19delTT http://identifiers.org/clinvar/201986 ^@ NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) http://identifiers.org/clinvar/202103 ^@ NM_003673.3(TCAP):c.290C>T (p.Ala97Val) http://identifiers.org/clinvar/201823 ^@ NM_002230.2(JUP):c.1354A>T (p.Thr452Ser) http://identifiers.org/clinvar/201766 ^@ NM_001390.4(DTNA):c.784C>T (p.His262Tyr) http://identifiers.org/clinvar/202212 ^@ NM_001142298.1(SQSTM1):c.98C>T (p.Ala33Val) http://identifiers.org/clinvar/202498 ^@ NM_001256850.1(TTN):c.96175delGinsCT (p.Asp32059Leufs) http://identifiers.org/clinvar/203056 ^@ NM_001256850.1(TTN):c.95524G>C (p.Glu31842Gln) http://identifiers.org/clinvar/203006 ^@ NM_001256850.1(TTN):c.89704A>G (p.Ile29902Val) http://identifiers.org/clinvar/202335 ^@ NM_001256850.1(TTN):c.88207G>T (p.Gly29403Cys) http://identifiers.org/clinvar/202956 ^@ NM_001256850.1(TTN):c.84149C>A (p.Thr28050Asn) http://identifiers.org/clinvar/202906 ^@ NM_001256850.1(TTN):c.76508A>G (p.Glu25503Gly) http://identifiers.org/clinvar/202856 ^@ NM_001256850.1(TTN):c.69641C>T (p.Thr23214Ile) http://identifiers.org/clinvar/202806 ^@ NM_001256850.1(TTN):c.62216T>A (p.Ile20739Asn) http://identifiers.org/clinvar/232874 ^@ NM_005732.3(RAD50):c.1369C>G (p.Leu457Val) http://identifiers.org/clinvar/233174 ^@ NM_005732.3(RAD50):c.3454C>T (p.Arg1152Ter) http://identifiers.org/clinvar/232624 ^@ NM_000535.6(PMS2):c.109A>G (p.Thr37Ala) http://identifiers.org/clinvar/233424 ^@ NM_002485.4(NBN):c.2184+1G>T http://identifiers.org/clinvar/230024 ^@ NM_002485.4(NBN):c.2003C>T (p.Thr668Ile) http://identifiers.org/clinvar/229724 ^@ NM_002485.4(NBN):c.339G>A (p.Leu113=) http://identifiers.org/clinvar/229824 ^@ NM_000077.4(CDKN2A):c.212delA (p.Asn71Thrfs) http://identifiers.org/clinvar/229974 ^@ NM_000051.3(ATM):c.496+3A>G http://identifiers.org/clinvar/232724 ^@ NM_000051.3(ATM):c.2190T>C (p.Cys730=) http://identifiers.org/clinvar/230124 ^@ NM_000051.3(ATM):c.3252_3259delAGTTCGCA (p.Gln1084Hisfs) http://identifiers.org/clinvar/233274 ^@ NM_000051.3(ATM):c.3283A>C (p.Arg1095=) http://identifiers.org/clinvar/229874 ^@ NM_000051.3(ATM):c.4561G>C (p.Val1521Leu) http://identifiers.org/clinvar/229924 ^@ NM_000051.3(ATM):c.5217C>T (p.Asn1739=) http://identifiers.org/clinvar/233324 ^@ NM_000051.3(ATM):c.5822T>G (p.Val1941Gly) http://identifiers.org/clinvar/233474 ^@ NM_000051.3(ATM):c.7629+3A>C http://identifiers.org/clinvar/233524 ^@ NM_000051.3(ATM):c.8336T>A (p.Phe2779Tyr) http://identifiers.org/clinvar/230274 ^@ NM_003002.3(SDHD):c.320T>G (p.Leu107Arg) http://identifiers.org/clinvar/230074 ^@ NM_005591.3(MRE11):c.408T>C (p.Asp136=) http://identifiers.org/clinvar/233024 ^@ NM_000059.3(BRCA2):c.505A>C (p.Lys169Gln) http://identifiers.org/clinvar/232573 ^@ NM_000059.3(BRCA2):c.4366G>A (p.Glu1456Lys) http://identifiers.org/clinvar/232824 ^@ NM_000059.3(BRCA2):c.8040C>G (p.Asp2680Glu) http://identifiers.org/clinvar/229674 ^@ NM_024675.3(PALB2):c.3246_3247delTG (p.Ser1082Argfs) http://identifiers.org/clinvar/232774 ^@ NM_024675.3(PALB2):c.2835G>A (p.Arg945=) http://identifiers.org/clinvar/232674 ^@ NM_024675.3(PALB2):c.1694G>A (p.Ser565Asn) http://identifiers.org/clinvar/233224 ^@ NM_024675.3(PALB2):c.263T>C (p.Leu88Pro) http://identifiers.org/clinvar/232974 ^@ NM_004360.4(CDH1):c.358G>A (p.Gly120Arg) http://identifiers.org/clinvar/233074 ^@ NM_001042492.2(NF1):c.872A>C (p.Glu291Ala) http://identifiers.org/clinvar/230174 ^@ NM_005359.5(SMAD4):c.369T>C (p.Cys123=) http://identifiers.org/clinvar/233374 ^@ NM_007194.3(CHEK2):c.507_509delTGT (p.Phe169_Val170delinsLeu) http://identifiers.org/clinvar/235282 ^@ NC_012920.1:m.7867C>T http://identifiers.org/clinvar/235334 ^@ NM_000314.6(PTEN):c.531T>G (p.Tyr177Ter) http://identifiers.org/clinvar/235387 ^@ NM_018965.3(TREM2):c.*73G>A http://identifiers.org/clinvar/235443 ^@ NM_006876.2(B4GAT1):c.1067T>C (p.Leu356Pro) http://identifiers.org/clinvar/235495 ^@ NM_014080.4(DUOX2):c.2182G>A (p.Ala728Thr) http://identifiers.org/clinvar/235548 ^@ NC_012920.1:m.6554C>T http://identifiers.org/clinvar/235599 ^@ NM_001128834.2(PLP1):c.388C>T (p.His130Tyr) http://identifiers.org/clinvar/235650 ^@ NC_012920.1:m.15514T>C http://identifiers.org/clinvar/235705 ^@ NC_012920.1:m.8818C>T http://identifiers.org/clinvar/235767 ^@ NM_000252.2(MTM1):c.564_566delTAA (p.Asn189del) http://identifiers.org/clinvar/235839 ^@ NM_022068.3(PIEZO2):c.8181_8183delAGA (p.Glu2727del) http://identifiers.org/clinvar/235920 ^@ NM_001168272.1(ITPR1):c.7758T>G (p.Phe2586Leu) http://identifiers.org/clinvar/236123 ^@ NM_000350.2(ABCA4):c.4979C>T (p.Pro1660Leu) http://identifiers.org/clinvar/236073 ^@ NM_000350.2(ABCA4):c.180G>C (p.Ala60=) http://identifiers.org/clinvar/236173 ^@ NM_004621.5(TRPC6):c.1293+54G>T http://identifiers.org/clinvar/236261 ^@ NM_007294.3(BRCA1):c.441+2T>G http://identifiers.org/clinvar/236312 ^@ NC_000015.8:g.21238307_32518050dup11279744 http://identifiers.org/clinvar/236362 ^@ NC_000020.9:g.14653888_14859003del205116 http://identifiers.org/clinvar/236463 ^@ NM_001298.2(CNGA3):c.1557G>A (p.Met519Ile) http://identifiers.org/clinvar/236413 ^@ NM_006269.1(RP1):c.121T>C (p.Tyr41His) http://identifiers.org/clinvar/236513 ^@ NM_001297.4(CNGB1):c.1382C>T (p.Thr461Met) http://identifiers.org/clinvar/240953 ^@ NM_015074.3(KIF1B):c.1401A>T (p.Gly467=) http://identifiers.org/clinvar/238709 ^@ NM_001267550.2(TTN):c.15500C>T (p.Pro5167Leu) http://identifiers.org/clinvar/238759 ^@ NM_001267550.2(TTN):c.3730-7T>C http://identifiers.org/clinvar/237408 ^@ NM_000251.2(MSH2):c.790C>T (p.Gln264Ter) http://identifiers.org/clinvar/241253 ^@ NM_018062.3(FANCL):c.963T>A (p.Asp321Glu) http://identifiers.org/clinvar/241003 ^@ NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) http://identifiers.org/clinvar/238109 ^@ NM_000551.3(VHL):c.464-?_*3705+?del http://identifiers.org/clinvar/237759 ^@ NM_000388.3(CASR):c.1752G>A (p.Lys584=) http://identifiers.org/clinvar/238609 ^@ NM_001166110.1(PALLD):c.283G>C (p.Val95Leu) http://identifiers.org/clinvar/240353 ^@ NM_006206.4(PDGFRA):c.555G>T (p.Gly185=) http://identifiers.org/clinvar/240303 ^@ NM_006206.4(PDGFRA):c.1319C>T (p.Thr440Met) http://identifiers.org/clinvar/236663 ^@ NM_000038.5(APC):c.986A>G (p.Asp329Gly) http://identifiers.org/clinvar/236563 ^@ NM_000038.5(APC):c.1743+1G>A http://identifiers.org/clinvar/236613 ^@ NM_000038.5(APC):c.5025dupT (p.Arg1676Terfs) http://identifiers.org/clinvar/238209 ^@ NM_001010892.2(RSPH4A):c.259C>T (p.Pro87Ser) http://identifiers.org/clinvar/238659 ^@ NM_001206927.1(DNAH8):c.9739A>G (p.Arg3247Gly) http://identifiers.org/clinvar/241403 ^@ NM_021930.5(RINT1):c.2067+6T>A http://identifiers.org/clinvar/237859 ^@ NM_000492.3(CFTR):c.744-6T>G http://identifiers.org/clinvar/258512 ^@ NM_001999.3(FBN2):c.2429-48T>C http://identifiers.org/clinvar/258062 ^@ NM_001369.2(DNAH5):c.8224+15G>A http://identifiers.org/clinvar/258012 ^@ NM_001369.2(DNAH5):c.2577+5T>C http://identifiers.org/clinvar/261602 ^@ NM_022464.4(SIL1):c.900C>T (p.Phe300=) http://identifiers.org/clinvar/258912 ^@ NM_003122.4(SPINK1):c.-41G>A http://identifiers.org/clinvar/261252 ^@ NM_020381.3(PDSS2):c.348G>T (p.Val116=) http://identifiers.org/clinvar/260452 ^@ NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) http://identifiers.org/clinvar/256073 ^@ NM_000426.3(LAMA2):c.5071+18A>G http://identifiers.org/clinvar/260852 ^@ NM_017651.4(AHI1):c.2962-16A>G http://identifiers.org/clinvar/261102 ^@ NM_019105.6(TNXB):c.11136G>A (p.Thr3712=) http://identifiers.org/clinvar/261152 ^@ NM_019105.6(TNXB):c.6842-24C>T http://identifiers.org/clinvar/262391 ^@ NM_138694.3(PKHD1):c.1875G>T (p.Leu625=) http://identifiers.org/clinvar/258362 ^@ NM_001851.4(COL9A1):c.89-12T>C http://identifiers.org/clinvar/256223 ^@ NM_000474.3(TWIST1):c.259_276del18 (p.Ala87_Gly92del) http://identifiers.org/clinvar/257912 ^@ NM_001277115.1(DNAH11):c.5734A>G (p.Met1912Val) http://identifiers.org/clinvar/257862 ^@ NM_001277115.1(DNAH11):c.12508-14C>T http://identifiers.org/clinvar/261052 ^@ NM_018685.4(ANLN):c.883_885dupTCT (p.Ser295_Pro296insSer) http://identifiers.org/clinvar/260752 ^@ NM_016616.4(NME8):c.-5G>T http://identifiers.org/clinvar/256173 ^@ NM_000445.4(PLEC):c.3004+37C>T http://identifiers.org/clinvar/261302 ^@ NM_020476.2(ANK1):c.2960+13G>T http://identifiers.org/clinvar/260902 ^@ NM_017780.3(CHD7):c.3379-33A>G http://identifiers.org/clinvar/260502 ^@ NM_015046.5(SETX):c.2975A>G (p.Lys992Arg) http://identifiers.org/clinvar/262441 ^@ NM_139025.4(ADAMTS13):c.3097G>A (p.Ala1033Thr) http://identifiers.org/clinvar/261202 ^@ NM_019892.5(INPP5E):c.791G>A (p.Arg264His) http://identifiers.org/clinvar/262541 ^@ NM_144966.5(FREM1):c.4785C>T (p.Ala1595=) http://identifiers.org/clinvar/256323 ^@ NM_000507.3(FBP1):c.653G>A (p.Arg218Lys) http://identifiers.org/clinvar/255673 ^@ NM_000264.3(PTCH1):c.202-19C>T http://identifiers.org/clinvar/256273 ^@ NM_000494.3(COL17A1):c.3261T>C (p.Ile1087=) http://identifiers.org/clinvar/261552 ^@ NM_022124.5(CDH23):c.5503-44T>C http://identifiers.org/clinvar/258812 ^@ NM_002778.3(PSAP):c.909+32G>T http://identifiers.org/clinvar/260802 ^@ NM_016952.4(CDON):c.496+50T>C http://identifiers.org/clinvar/255623 ^@ NM_000256.3(MYBPC3):c.1091-31G>A http://identifiers.org/clinvar/258562 ^@ NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=) http://identifiers.org/clinvar/258662 ^@ NM_002465.3(MYBPC1):c.26-9C>T http://identifiers.org/clinvar/260402 ^@ NM_014365.2(HSPB8):c.402T>C (p.Ile134=) http://identifiers.org/clinvar/258212 ^@ NM_001844.4(COL2A1):c.1635C>T (p.Asn545=) http://identifiers.org/clinvar/260352 ^@ NM_014191.3(SCN8A):c.3490+20G>A http://identifiers.org/clinvar/256673 ^@ NM_000552.4(VWF):c.3579T>C (p.Pro1193=) http://identifiers.org/clinvar/261352 ^@ NM_020661.3(AICDA):c.156+16G>A http://identifiers.org/clinvar/258262 ^@ NM_001845.5(COL4A1):c.780+7G>A http://identifiers.org/clinvar/255823 ^@ NM_000321.2(RB1):c.2663+33C>T http://identifiers.org/clinvar/258712 ^@ NM_002471.3(MYH6):c.4959+46G>C http://identifiers.org/clinvar/255723 ^@ NM_000275.2(OCA2):c.1842+17C>T http://identifiers.org/clinvar/255873 ^@ NM_000338.2(SLC12A1):c.2043-9dupT http://identifiers.org/clinvar/333247 ^@ NM_007315.3(STAT1):c.*1473C>T http://identifiers.org/clinvar/333297 ^@ NM_007315.3(STAT1):c.-293C>G http://identifiers.org/clinvar/333547 ^@ NM_001044385.2(TMEM237):c.*1603T>G http://identifiers.org/clinvar/333597 ^@ NM_020919.3(ALS2):c.1677A>G (p.Lys559=) http://identifiers.org/clinvar/333747 ^@ NM_012092.3(ICOS):c.*964T>C http://identifiers.org/clinvar/333447 ^@ NM_032977.3(CASP10):c.*285G>A http://identifiers.org/clinvar/333497 ^@ NM_001228.4(CASP8):c.394T>C (p.Leu132=) http://identifiers.org/clinvar/333947 ^@ NM_015040.3(PIKFYVE):c.*720A>G http://identifiers.org/clinvar/333697 ^@ NM_001204.6(BMPR2):c.*4364C>T http://identifiers.org/clinvar/334148 ^@ NM_000384.2(APOB):c.3881T>C (p.Leu1294Ser) http://identifiers.org/clinvar/333997 ^@ NM_001608.3(ACADL):c.603+11A>G http://identifiers.org/clinvar/334299 ^@ NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr) http://identifiers.org/clinvar/334098 ^@ NM_000384.2(APOB):c.11466G>A (p.Val3822=) http://identifiers.org/clinvar/334199 ^@ NM_000465.3(BARD1):c.-30G>C http://identifiers.org/clinvar/337605 ^@ NM_020184.3(CNNM4):c.*1056C>T http://identifiers.org/clinvar/337655 ^@ NM_001298.2(CNGA3):c.238C>T (p.Leu80=) http://identifiers.org/clinvar/342335 ^@ NM_016247.3(IMPG2):c.3503C>G (p.Ala1168Gly) http://identifiers.org/clinvar/342685 ^@ NM_020754.3(ARHGAP31):c.*590C>T http://identifiers.org/clinvar/337555 ^@ NM_014014.4(SNRNP200):c.2222T>C (p.Met741Thr) http://identifiers.org/clinvar/342385 ^@ NM_033084.4(FANCD2):c.*135A>G http://identifiers.org/clinvar/343035 ^@ NM_000373.3(UMPS):c.*4717C>T http://identifiers.org/clinvar/343285 ^@ NM_000539.3(RHO):c.*115G>A http://identifiers.org/clinvar/342485 ^@ NM_000551.3(VHL):c.*2738G>A http://identifiers.org/clinvar/343385 ^@ NM_153240.4(NPHP3):c.2169G>A (p.Ala723=) http://identifiers.org/clinvar/342735 ^@ NM_000187.3(HGD):c.1221G>A (p.Ala407=) http://identifiers.org/clinvar/342835 ^@ NM_053025.3(MYLK):c.*1174_*1177dupCTTA http://identifiers.org/clinvar/342935 ^@ NM_000373.3(UMPS):c.1336A>G (p.Ile446Val) http://identifiers.org/clinvar/343085 ^@ NM_025265.3(TSEN2):c.*211C>T http://identifiers.org/clinvar/350614 ^@ NM_005573.3(LMNB1):c.672A>G (p.Glu224=) http://identifiers.org/clinvar/357380 ^@ NM_138694.3(PKHD1):c.*1597G>A http://identifiers.org/clinvar/350764 ^@ NM_001999.3(FBN2):c.7138G>A (p.Asp2380Asn) http://identifiers.org/clinvar/350814 ^@ NM_003060.3(SLC22A5):c.952-14T>C http://identifiers.org/clinvar/357680 ^@ NM_000129.3(F13A1):c.-19+12A>C http://identifiers.org/clinvar/350914 ^@ NM_001369.2(DNAH5):c.*445G>A http://identifiers.org/clinvar/350864 ^@ NM_000358.2(TGFBI):c.-124C>A http://identifiers.org/clinvar/357880 ^@ NM_014989.5(RIMS1):c.*1355C>T http://identifiers.org/clinvar/357930 ^@ NM_004415.3(DSP):c.-228C>A http://identifiers.org/clinvar/357980 ^@ NM_004415.3(DSP):c.*386G>T http://identifiers.org/clinvar/351064 ^@ NM_001369.2(DNAH5):c.7091G>C (p.Gly2364Ala) http://identifiers.org/clinvar/351214 ^@ NM_001369.2(DNAH5):c.1341C>T (p.His447=) http://identifiers.org/clinvar/350964 ^@ NM_017415.2(KLHL3):c.*1434T>G http://identifiers.org/clinvar/355091 ^@ NM_000493.3(COL10A1):c.1851T>C (p.Asn617=) http://identifiers.org/clinvar/351164 ^@ NM_199189.2(MATR3):c.*1076T>C http://identifiers.org/clinvar/351264 ^@ NM_005219.4(DIAPH1):c.*1364T>C http://identifiers.org/clinvar/351314 ^@ NM_001018077.1(NR3C1):c.*3833A>G http://identifiers.org/clinvar/355541 ^@ NM_000288.3(PEX7):c.*305_*310delCTTATA http://identifiers.org/clinvar/355591 ^@ NM_003630.2(PEX3):c.*1074A>G http://identifiers.org/clinvar/355841 ^@ NM_033071.3(SYNE1):c.19443C>T (p.Val6481=) http://identifiers.org/clinvar/355941 ^@ NM_033071.3(SYNE1):c.1312G>T (p.Val438Phe) http://identifiers.org/clinvar/355991 ^@ NM_004562.2(PRKN):c.*1695G>A http://identifiers.org/clinvar/351764 ^@ NM_024577.3(SH3TC2):c.*7939C>A http://identifiers.org/clinvar/352251 ^@ NM_000405.4(GM2A):c.-7C>G http://identifiers.org/clinvar/352301 ^@ NM_000405.4(GM2A):c.*2767C>T http://identifiers.org/clinvar/352451 ^@ NM_000337.5(SGCD):c.*8113_*8114dupAA http://identifiers.org/clinvar/352551 ^@ NM_001099287.1(NIPAL4):c.*1733G>T http://identifiers.org/clinvar/352351 ^@ NM_000337.5(SGCD):c.*1171C>A http://identifiers.org/clinvar/352401 ^@ NM_000337.5(SGCD):c.*5114C>T http://identifiers.org/clinvar/352601 ^@ NM_000806.5(GABRA1):c.1290A>G (p.Leu430=) http://identifiers.org/clinvar/352651 ^@ NM_000816.3(GABRG2):c.*343A>G http://identifiers.org/clinvar/352701 ^@ NM_012188.4(FOXI1):c.30C>T (p.Ser10=) http://identifiers.org/clinvar/352901 ^@ NM_022455.4(NSD1):c.*946C>T http://identifiers.org/clinvar/352951 ^@ NM_003052.4(SLC34A1):c.-48G>C http://identifiers.org/clinvar/353101 ^@ NM_014244.4(ADAMTS2):c.2727C>T (p.Asn909=) http://identifiers.org/clinvar/357280 ^@ NM_003221.3(TFAP2B):c.997G>T (p.Ala333Ser) http://identifiers.org/clinvar/353001 ^@ NM_000505.3(F12):c.418C>G (p.Leu140Val) http://identifiers.org/clinvar/357330 ^@ NM_003221.3(TFAP2B):c.*2446C>G http://identifiers.org/clinvar/353201 ^@ NM_004168.3(SDHA):c.163T>C (p.Tyr55His) http://identifiers.org/clinvar/360829 ^@ NM_005751.4(AKAP9):c.5227G>A (p.Ala1743Thr) http://identifiers.org/clinvar/353051 ^@ NM_014244.4(ADAMTS2):c.*2196T>A http://identifiers.org/clinvar/353301 ^@ NM_002185.3(IL7R):c.*1924G>A http://identifiers.org/clinvar/357430 ^@ NM_138694.3(PKHD1):c.7301C>T (p.Ala2434Val) http://identifiers.org/clinvar/360929 ^@ NM_000466.2(PEX1):c.1369A>G (p.Ile457Val) http://identifiers.org/clinvar/361029 ^@ NM_014251.2(SLC25A13):c.-85_-83dupCCG http://identifiers.org/clinvar/353451 ^@ NM_023073.3(C5orf42):c.4719C>T (p.Asp1573=) http://identifiers.org/clinvar/361329 ^@ NM_178857.5(RP1L1):c.2915C>G (p.Thr972Arg) http://identifiers.org/clinvar/357780 ^@ NM_018368.3(LMBRD1):c.100C>G (p.Arg34Gly) http://identifiers.org/clinvar/357830 ^@ NM_014989.5(RIMS1):c.438C>T (p.Arg146=) http://identifiers.org/clinvar/353351 ^@ NM_004172.4(SLC1A3):c.*1353A>G http://identifiers.org/clinvar/353401 ^@ NM_023073.3(C5orf42):c.*889A>G http://identifiers.org/clinvar/361639 ^@ NM_014112.4(TRPS1):c.-258G>A http://identifiers.org/clinvar/361689 ^@ NM_002546.3(TNFRSF11B):c.714G>A (p.Glu238=) http://identifiers.org/clinvar/361739 ^@ NM_014846.3(WASHC5):c.-167C>T http://identifiers.org/clinvar/353501 ^@ NM_000514.3(GDNF):c.*1331G>C http://identifiers.org/clinvar/361839 ^@ NM_004519.3(KCNQ3):c.*2385_*2388delAGTA http://identifiers.org/clinvar/363728 ^@ NM_018972.2(GDAP1):c.*830C>G http://identifiers.org/clinvar/299931 ^@ NM_020975.4(RET):c.*1345G>T http://identifiers.org/clinvar/299981 ^@ NM_002900.2(RBP3):c.1674G>A (p.Ser558=) http://identifiers.org/clinvar/364028 ^@ NM_001001557.3(GDF6):c.*288T>A http://identifiers.org/clinvar/300181 ^@ NM_033056.3(PCDH15):c.3501+7G>T http://identifiers.org/clinvar/307014 ^@ NM_052845.3(MMAB):c.*2619A>T http://identifiers.org/clinvar/307214 ^@ NM_000432.3(MYL2):c.275-12G>A http://identifiers.org/clinvar/307564 ^@ NM_024809.4(TCTN2):c.*155G>A http://identifiers.org/clinvar/307664 ^@ NM_004064.4(CDKN1B):c.356T>C (p.Ile119Thr) http://identifiers.org/clinvar/307814 ^@ NM_172364.4(CACNA2D4):c.*1114G>A http://identifiers.org/clinvar/308114 ^@ NM_004985.4(KRAS):c.*824T>C http://identifiers.org/clinvar/308564 ^@ NM_017641.3(KIF21A):c.3072C>T (p.Ala1024=) http://identifiers.org/clinvar/308664 ^@ NM_198578.3(LRRK2):c.*935_*936dupTT http://identifiers.org/clinvar/301420 ^@ NM_000314.6(PTEN):c.-121A>G http://identifiers.org/clinvar/365617 ^@ NM_014694.3(ADAMTSL2):c.*252C>T http://identifiers.org/clinvar/301570 ^@ NM_000235.3(LIPA):c.*330T>C http://identifiers.org/clinvar/365667 ^@ NM_000787.3(DBH):c.1563-5A>G http://identifiers.org/clinvar/301670 ^@ NM_016341.3(PLCE1):c.-433G>T http://identifiers.org/clinvar/301820 ^@ NM_138413.3(HOGA1):c.*637G>A http://identifiers.org/clinvar/365867 ^@ NM_019892.5(INPP5E):c.*913T>C http://identifiers.org/clinvar/365968 ^@ NM_016219.4(MAN1B1):c.1695G>A (p.Thr565=) http://identifiers.org/clinvar/365717 ^@ NM_000093.4(COL5A1):c.2555A>G (p.Asn852Ser) http://identifiers.org/clinvar/366118 ^@ NM_144966.5(FREM1):c.4754A>G (p.Asp1585Gly) http://identifiers.org/clinvar/309553 ^@ NM_000424.3(KRT5):c.*59C>T http://identifiers.org/clinvar/366168 ^@ NM_144966.5(FREM1):c.553C>T (p.His185Tyr) http://identifiers.org/clinvar/302070 ^@ NM_001080463.1(DYNC2H1):c.8365T>C (p.Phe2789Leu) http://identifiers.org/clinvar/366218 ^@ NM_003070.4(SMARCA2):c.3165T>C (p.Leu1055=) http://identifiers.org/clinvar/309653 ^@ NM_006121.3(KRT1):c.374G>A (p.Gly125Asp) http://identifiers.org/clinvar/366318 ^@ NM_002451.3(MTAP):c.*3943G>A http://identifiers.org/clinvar/365918 ^@ NM_006412.3(AGPAT2):c.748C>T (p.Arg250Trp) http://identifiers.org/clinvar/302270 ^@ NM_000051.3(ATM):c.*1427T>C http://identifiers.org/clinvar/366418 ^@ NM_133497.3(KCNV2):c.1049_1052dupTGCT (p.Leu352Alafs) http://identifiers.org/clinvar/302620 ^@ NM_174934.3(SCN4B):c.*1007G>A http://identifiers.org/clinvar/366368 ^@ NM_003383.4(VLDLR):c.1066+14T>C http://identifiers.org/clinvar/366818 ^@ NM_005476.5(GNE):c.*1036_*1037dupCA http://identifiers.org/clinvar/366518 ^@ NM_001256054.2(C9orf72):c.1260-17_1260-14dupTTTT http://identifiers.org/clinvar/340495 ^@ NM_006031.5(PCNT):c.4775T>G (p.Val1592Gly) http://identifiers.org/clinvar/340546 ^@ NM_006031.5(PCNT):c.9720G>A (p.Pro3240=) http://identifiers.org/clinvar/340796 ^@ NM_017929.5(PEX26):c.*1669C>G http://identifiers.org/clinvar/313007 ^@ NM_004086.2(COCH):c.*27A>T http://identifiers.org/clinvar/313107 ^@ NM_020529.2(NFKBIA):c.*18G>C http://identifiers.org/clinvar/313507 ^@ NM_182914.2(SYNE2):c.4190C>A (p.Thr1397Asn) http://identifiers.org/clinvar/313757 ^@ NM_000347.5(SPTB):c.1796G>A (p.Gly599Glu) http://identifiers.org/clinvar/314007 ^@ NM_000021.3(PSEN1):c.*4095A>G http://identifiers.org/clinvar/323881 ^@ NM_000212.2(ITGB3):c.*517C>T http://identifiers.org/clinvar/323931 ^@ NM_018129.3(PNPO):c.*1123G>A http://identifiers.org/clinvar/324137 ^@ NM_053013.3(ENO3):c.226G>C (p.Ala76Pro) http://identifiers.org/clinvar/314407 ^@ NM_017791.2(FLVCR2):c.-71C>T http://identifiers.org/clinvar/316346 ^@ NM_000138.4(FBN1):c.*960delG http://identifiers.org/clinvar/368436 ^@ NM_007137.3(ZNF81):c.*4003G>A http://identifiers.org/clinvar/314607 ^@ NM_004863.3(SPTLC2):c.*3457T>C http://identifiers.org/clinvar/315446 ^@ NM_022807.4(SNRPN):c.-110T>G http://identifiers.org/clinvar/315646 ^@ NM_005159.4(ACTC1):c.*2168G>T http://identifiers.org/clinvar/315696 ^@ NM_005159.4(ACTC1):c.*284G>A http://identifiers.org/clinvar/315896 ^@ NM_000070.2(CAPN3):c.1768G>A (p.Val590Met) http://identifiers.org/clinvar/315996 ^@ NM_173500.3(TTBK2):c.980+8C>A http://identifiers.org/clinvar/316146 ^@ NM_014080.4(DUOX2):c.3689C>T (p.Ala1230Val) http://identifiers.org/clinvar/318088 ^@ NM_001143979.1(NDE1):c.947+7227C>T http://identifiers.org/clinvar/325830 ^@ NM_000199.3(SGSH):c.1296C>T (p.Tyr432=) http://identifiers.org/clinvar/373207 ^@ NM_000069.2(CACNA1S):c.1166A>T (p.Asp389Val) http://identifiers.org/clinvar/373157 ^@ NM_001165963.1(SCN1A):c.5245G>A (p.Gly1749Arg) http://identifiers.org/clinvar/372701 ^@ NM_024665.5(TBL1XR1):c.1108G>A (p.Asp370Asn) http://identifiers.org/clinvar/372854 ^@ NM_002222.5(ITPR1):c.107G>A (p.Arg36His) http://identifiers.org/clinvar/373257 ^@ NM_053025.3(MYLK):c.-4G>A http://identifiers.org/clinvar/372957 ^@ NM_145207.2(SPATA5):c.304C>T (p.Pro102Ser) http://identifiers.org/clinvar/372648 ^@ NM_032446.2(MEGF10):c.1192G>T (p.Glu398Ter) http://identifiers.org/clinvar/372751 ^@ NM_000142.4(FGFR3):c.1052C>G (p.Ser351Cys) http://identifiers.org/clinvar/373007 ^@ NM_000089.3(COL1A2):c.401delC (p.Pro134Glnfs) http://identifiers.org/clinvar/373307 ^@ NM_133436.3(ASNS):c.1279T>C (p.Ser427Pro) http://identifiers.org/clinvar/373107 ^@ NM_032578.3(MYPN):c.578A>G (p.Gln193Arg) http://identifiers.org/clinvar/372801 ^@ NM_007055.3(POLR3A):c.1930G>A (p.Glu644Lys) http://identifiers.org/clinvar/373057 ^@ NM_144670.5(A2ML1):c.*1+1G>A http://identifiers.org/clinvar/372905 ^@ NM_014714.3(IFT140):c.2176C>G (p.Pro726Ala) http://identifiers.org/clinvar/374199 ^@ NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys) http://identifiers.org/clinvar/374253 ^@ NM_001172517.1(SATB2):c.1198A>G (p.Lys400Glu) http://identifiers.org/clinvar/374388 ^@ NM_013339.3(ALG6):c.988G>T (p.Val330Phe) http://identifiers.org/clinvar/374323 ^@ NM_005270.4(GLI2):c.891delG (p.Gln297Hisfs) http://identifiers.org/clinvar/374691 ^@ NM_022787.3(NMNAT1):c.710G>A (p.Arg237His) http://identifiers.org/clinvar/374741 ^@ NM_003978.4(PSTPIP1):c.7C>T (p.Pro3Ser) http://identifiers.org/clinvar/374801 ^@ NM_005188.3(CBL):c.2097G>A (p.Glu699=) http://identifiers.org/clinvar/374851 ^@ NM_001278512.1(AP3B2):c.1837delG (p.Glu613Serfs) http://identifiers.org/clinvar/374908 ^@ NM_020738.3(KIDINS220):c.4050G>A (p.Trp1350Ter) http://identifiers.org/clinvar/374968 ^@ NM_006231.3(POLE):c.3671C>T (p.Ala1224Val) http://identifiers.org/clinvar/375299 ^@ NM_000138.4(FBN1):c.6004C>T (p.Pro2002Ser) http://identifiers.org/clinvar/375354 ^@ NM_000520.5(HEXA):c.616G>C (p.Val206Leu) http://identifiers.org/clinvar/375405 ^@ NM_032119.3(ADGRV1):c.12436C>T (p.Arg4146Ter) http://identifiers.org/clinvar/375465 ^@ NM_000742.3(CHRNA2):c.289G>A (p.Asp97Asn) http://identifiers.org/clinvar/375528 ^@ NM_006772.2(SYNGAP1):c.509G>A (p.Arg170Gln) http://identifiers.org/clinvar/375587 ^@ NM_003588.3(CUL4B):c.1736_1737delCA (p.Thr579Argfs) http://identifiers.org/clinvar/375645 ^@ NM_002043.4(GABRR2):c.1003G>A (p.Val335Met) http://identifiers.org/clinvar/375734 ^@ NM_001013663.1(PTRHD1):c.155G>A (p.Cys52Tyr) http://identifiers.org/clinvar/375790 ^@ NM_000527.4(LDLR):c.672C>A (p.Asp224Glu) http://identifiers.org/clinvar/375840 ^@ NM_000527.4(LDLR):c.2479G>T (p.Val827Phe) http://identifiers.org/clinvar/375893 ^@ NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser) http://identifiers.org/clinvar/386137 ^@ NM_000179.2(MSH6):c.2436A>G (p.Leu812=) http://identifiers.org/clinvar/392825 ^@ NM_001135659.2(NRXN1):c.3485-109912G>A http://identifiers.org/clinvar/378252 ^@ NM_005006.6(NDUFS1):c.1062C>T (p.Leu354=) http://identifiers.org/clinvar/382995 ^@ NM_014929.3(FASTKD2):c.1255-7T>C http://identifiers.org/clinvar/378407 ^@ NM_033109.4(PNPT1):c.2149-11T>G http://identifiers.org/clinvar/389386 ^@ NM_015120.4(ALMS1):c.4965G>T (p.Lys1655Asn) http://identifiers.org/clinvar/380651 ^@ NM_000551.3(VHL):c.301C>T (p.Leu101=) http://identifiers.org/clinvar/382294 ^@ NM_000249.3(MLH1):c.51C>T (p.Asn17=) http://identifiers.org/clinvar/380701 ^@ NM_002880.3(RAF1):c.1668+14G>C http://identifiers.org/clinvar/389686 ^@ NM_015662.2(IFT172):c.2787+6G>A http://identifiers.org/clinvar/384247 ^@ NM_005051.2(QARS):c.25C>A (p.Leu9Ile) http://identifiers.org/clinvar/386937 ^@ NM_000249.3(MLH1):c.2103+14G>A http://identifiers.org/clinvar/382043 ^@ NM_017875.2(SLC25A38):c.525G>C (p.Arg175=) http://identifiers.org/clinvar/378302 ^@ NM_001135659.2(NRXN1):c.4337-13C>T http://identifiers.org/clinvar/380802 ^@ NM_024582.4(FAT4):c.14598A>G (p.Arg4866=) http://identifiers.org/clinvar/392725 ^@ NM_000094.3(COL7A1):c.6751G>A (p.Gly2251Arg) http://identifiers.org/clinvar/386687 ^@ NM_001457.3(FLNB):c.3169A>C (p.Lys1057Gln) http://identifiers.org/clinvar/391675 ^@ NM_000038.5(APC):c.135+12G>T http://identifiers.org/clinvar/389986 ^@ NM_001148.4(ANK2):c.9869C>T (p.Ala3290Val) http://identifiers.org/clinvar/380250 ^@ NM_024582.4(FAT4):c.5760T>C (p.Asp1920=) http://identifiers.org/clinvar/382895 ^@ NM_024582.4(FAT4):c.8979C>T (p.Thr2993=) http://identifiers.org/clinvar/380050 ^@ NM_002887.3(RARS):c.243A>G (p.Gln81=) http://identifiers.org/clinvar/377449 ^@ NM_183357.2(ADCY5):c.2083C>T (p.Arg695Trp) http://identifiers.org/clinvar/382595 ^@ NM_015560.2(OPA1):c.-11C>G http://identifiers.org/clinvar/382695 ^@ NM_033071.3(SYNE1):c.687G>A (p.Pro229=) http://identifiers.org/clinvar/377900 ^@ NM_000806.5(GABRA1):c.-15-25G>T http://identifiers.org/clinvar/378152 ^@ NM_016098.3(MPC1):c.30G>A (p.Ala10=) http://identifiers.org/clinvar/383045 ^@ NM_198056.2(SCN5A):c.303C>T (p.Thr101=) http://identifiers.org/clinvar/380953 ^@ NM_006514.3(SCN10A):c.4089+12A>T http://identifiers.org/clinvar/391375 ^@ NM_013391.3(DMGDH):c.2385+11A>C http://identifiers.org/clinvar/391725 ^@ NM_006514.3(SCN10A):c.2106+9T>C http://identifiers.org/clinvar/382645 ^@ NM_015340.3(LARS2):c.693A>G (p.Ala231=) http://identifiers.org/clinvar/382143 ^@ NM_001069.2(TUBB2A):c.363G>A (p.Arg121=) http://identifiers.org/clinvar/389886 ^@ NM_006073.3(TRDN):c.1524G>A (p.Lys508=) http://identifiers.org/clinvar/381003 ^@ NM_005045.3(RELN):c.1824C>T (p.Cys608=) http://identifiers.org/clinvar/380150 ^@ NM_001167734.1(VARS2):c.258G>T (p.Ala86=) http://identifiers.org/clinvar/377850 ^@ NM_006567.4(FARS2):c.468G>A (p.Thr156=) http://identifiers.org/clinvar/382394 ^@ NM_006005.3(WFS1):c.2589C>T (p.Ile863=) http://identifiers.org/clinvar/382545 ^@ NM_000535.6(PMS2):c.23+6C>A http://identifiers.org/clinvar/386887 ^@ NM_000445.4(PLEC):c.6699C>T (p.Asp2233=) http://identifiers.org/clinvar/386187 ^@ NM_001182.4(ALDH7A1):c.1093C>T (p.Pro365Ser) http://identifiers.org/clinvar/392275 ^@ NM_024531.4(SLC52A2):c.1122C>T (p.Leu374=) http://identifiers.org/clinvar/380601 ^@ NM_000238.3(KCNH2):c.917-18C>T http://identifiers.org/clinvar/386387 ^@ NM_001204824.1(KCNQ3):c.-33250C>A http://identifiers.org/clinvar/386587 ^@ NM_003165.3(STXBP1):c.1659C>T (p.Ala553=) http://identifiers.org/clinvar/392025 ^@ NM_022455.4(NSD1):c.7219A>G (p.Thr2407Ala) http://identifiers.org/clinvar/377700 ^@ NM_018941.3(CLN8):c.708C>T (p.Val236=) http://identifiers.org/clinvar/383997 ^@ NM_007175.6(ERLIN2):c.-42G>C http://identifiers.org/clinvar/382494 ^@ NM_015570.3(AUTS2):c.1481T>C (p.Leu494Ser) http://identifiers.org/clinvar/393075 ^@ NM_002485.4(NBN):c.2234+17C>T http://identifiers.org/clinvar/377800 ^@ NM_001385.2(DPYS):c.352C>T (p.Arg118Ter) http://identifiers.org/clinvar/378356 ^@ NM_020381.3(PDSS2):c.703-14T>C http://identifiers.org/clinvar/386787 ^@ NM_020732.3(ARID1B):c.6519G>C (p.Gln2173His) http://identifiers.org/clinvar/384297 ^@ NM_016042.3(EXOSC3):c.540T>C (p.Cys180=) http://identifiers.org/clinvar/391225 ^@ NM_007171.3(POMT1):c.281-5T>C http://identifiers.org/clinvar/386987 ^@ NM_020822.2(KCNT1):c.417G>A (p.Pro139=) http://identifiers.org/clinvar/382845 ^@ NM_004415.3(DSP):c.7923C>T (p.Ile2641=) http://identifiers.org/clinvar/380100 ^@ NM_213649.1(SFXN4):c.678G>A (p.Ala226=) http://identifiers.org/clinvar/386287 ^@ NM_006348.3(COG5):c.1020T>C (p.His340=) http://identifiers.org/clinvar/386237 ^@ NM_020822.2(KCNT1):c.2502C>T (p.Ile834=) http://identifiers.org/clinvar/392075 ^@ NM_017617.4(NOTCH1):c.6583G>A (p.Gly2195Ser) http://identifiers.org/clinvar/133632 ^@ NM_000051.3(ATM):c.400G>A (p.Gly134Ser) http://identifiers.org/clinvar/133682 ^@ NM_001123383.1(BCOR):c.1448C>T (p.Pro483Leu) http://identifiers.org/clinvar/133733 ^@ NM_000059.3(BRCA2):c.3358G>C (p.Glu1120Gln) http://identifiers.org/clinvar/133786 ^@ NM_032415.5(CARD11):c.1581C>A (p.His527Gln) http://identifiers.org/clinvar/133836 ^@ NM_001783.3(CD79A):c.643A>G (p.Ser215Gly) http://identifiers.org/clinvar/133886 ^@ NM_007194.3(CHEK2):c.14C>T (p.Ser5Leu) http://identifiers.org/clinvar/133936 ^@ NM_004380.2(CREBBP):c.5967delG (p.Thr1990Profs) http://identifiers.org/clinvar/133986 ^@ NM_153759.3(DNMT3A):c.935A>G (p.Asn312Ser) http://identifiers.org/clinvar/134036 ^@ NM_001429.3(EP300):c.2173A>G (p.Ile725Val) http://identifiers.org/clinvar/134088 ^@ NM_001005862.2(ERBB2):c.293C>G (p.Pro98Arg) http://identifiers.org/clinvar/134138 ^@ NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) http://identifiers.org/clinvar/134188 ^@ NM_000123.3(ERCC5):c.1340C>T (p.Ala447Val) http://identifiers.org/clinvar/134238 ^@ NM_000135.2(FANCA):c.857A>G (p.Gln286Arg) http://identifiers.org/clinvar/134289 ^@ NM_000135.2(FANCA):c.623C>T (p.Ser208Leu) http://identifiers.org/clinvar/134339 ^@ NM_021922.2(FANCE):c.1058C>T (p.Pro353Leu) http://identifiers.org/clinvar/134390 ^@ NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) http://identifiers.org/clinvar/134440 ^@ NM_004119.2(FLT3):c.2918G>A (p.Arg973Gln) http://identifiers.org/clinvar/134490 ^@ NM_016592.3(GNAS):c.715C>A (p.Pro239Thr) http://identifiers.org/clinvar/134540 ^@ NM_002185.3(IL7R):c.1357T>C (p.Ser453Pro) http://identifiers.org/clinvar/134590 ^@ NM_001146702.1(KDM5C):c.4049C>G (p.Pro1350Arg) http://identifiers.org/clinvar/134641 ^@ NM_000244.3(MEN1):c.1480C>T (p.Pro494Ser) http://identifiers.org/clinvar/134692 ^@ NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) http://identifiers.org/clinvar/134743 ^@ NM_170606.2(KMT2C):c.1795G>T (p.Asp599Tyr) http://identifiers.org/clinvar/134793 ^@ NM_170606.2(KMT2C):c.11374C>A (p.Gln3792Lys) http://identifiers.org/clinvar/134844 ^@ NM_000251.2(MSH2):c.1798G>T (p.Ala600Ser) http://identifiers.org/clinvar/134897 ^@ NM_000268.3(NF2):c.1753G>A (p.Ala585Thr) http://identifiers.org/clinvar/134947 ^@ NM_017617.4(NOTCH1):c.7400C>T (p.Ser2467Leu) http://identifiers.org/clinvar/135230 ^@ NM_014159.6(SETD2):c.2704G>C (p.Glu902Gln) http://identifiers.org/clinvar/135281 ^@ NM_016169.3(SUFU):c.1022C>T (p.Pro341Leu) http://identifiers.org/clinvar/135331 ^@ NM_006290.3(TNFAIP3):c.322A>G (p.Thr108Ala) http://identifiers.org/clinvar/135381 ^@ NM_000548.4(TSC2):c.3413G>A (p.Arg1138Gln) http://identifiers.org/clinvar/135432 ^@ NM_000553.4(WRN):c.107G>A (p.Arg36Gln) http://identifiers.org/clinvar/135482 ^@ NM_004628.4(XPC):c.860T>G (p.Phe287Cys) http://identifiers.org/clinvar/135532 ^@ NM_000400.3(ERCC2):c.1119-173T>A http://identifiers.org/clinvar/135596 ^@ NM_002136.3(HNRNPA1):c.823C>T (p.Pro275Ser) http://identifiers.org/clinvar/135658 ^@ NM_006087.3(TUBB4A):c.1228G>A (p.Glu410Lys) http://identifiers.org/clinvar/135718 ^@ NM_000038.5(APC):c.7536T>C (p.Ser2512=) http://identifiers.org/clinvar/135769 ^@ NM_000051.3(ATM):c.6333T>C (p.His2111=) http://identifiers.org/clinvar/135827 ^@ NM_000077.4(CDKN2A):c.9_32dup24 (p.Pro11_Ser12insAlaAlaGlySerSerMetGluPro) http://identifiers.org/clinvar/135877 ^@ NM_000264.3(PTCH1):c.2177C>G (p.Pro726Arg) http://identifiers.org/clinvar/135927 ^@ NM_000455.4(STK11):c.723T>C (p.Ala241=) http://identifiers.org/clinvar/135978 ^@ NM_001127500.2(MET):c.959C>T (p.Ala320Val) http://identifiers.org/clinvar/187223 ^@ NM_007294.3(BRCA1):c.3432G>A (p.Gln1144=) http://identifiers.org/clinvar/185882 ^@ NM_007294.3(BRCA1):c.66A>C (p.Leu22Phe) http://identifiers.org/clinvar/187073 ^@ NM_058216.2(RAD51C):c.1128A>G (p.Leu376=) http://identifiers.org/clinvar/187623 ^@ NM_032043.2(BRIP1):c.2038T>C (p.Leu680=) http://identifiers.org/clinvar/187777 ^@ SMARCAD1, IVS1, T-C, +2 http://identifiers.org/clinvar/187849 ^@ NM_001029.3(RPS26):c.259C>T (p.Arg87Ter) http://identifiers.org/clinvar/187906 ^@ NM_005957.4(MTHFR):c.1969T>C (p.Ter657Arg) http://identifiers.org/clinvar/187956 ^@ NM_004409.4(DMPK):c.*224_*226[313] http://identifiers.org/clinvar/188006 ^@ NM_004409.4(DMPK):c.*224_*226[563] http://identifiers.org/clinvar/188056 ^@ NM_004608.3(TBX6):c.434C>T (p.Pro145Leu) http://identifiers.org/clinvar/188107 ^@ NM_000179.2(MSH6):c.2203C>A (p.Leu735Ile) http://identifiers.org/clinvar/189707 ^@ NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs) http://identifiers.org/clinvar/189757 ^@ NM_001110792.1(MECP2):c.1269_1279delCGTCTGCAAAG (p.Ser423Argfs) http://identifiers.org/clinvar/189657 ^@ NM_004992.3(MECP2):c.1129_1193del65 (p.Lys377Profs) http://identifiers.org/clinvar/189841 ^@ NM_003001.3(SDHC):c.224G>A (p.Gly75Asp) http://identifiers.org/clinvar/189991 ^@ NM_001165963.1(SCN1A):c.4044G>A (p.Met1348Ile) http://identifiers.org/clinvar/189891 ^@ NM_001165963.1(SCN1A):c.3705+2T>A http://identifiers.org/clinvar/189941 ^@ NM_001165963.1(SCN1A):c.1834C>T (p.Arg612Ter) http://identifiers.org/clinvar/190107 ^@ NM_173354.4(SIK1):c.1840C>T (p.Gln614Ter) http://identifiers.org/clinvar/190176 ^@ NM_000082.3(ERCC8):c.363T>C (p.Asp121=) http://identifiers.org/clinvar/190308 ^@ NM_015100.3(POGZ):c.2711T>A (p.Leu904Ter) http://identifiers.org/clinvar/190360 ^@ NM_002055.4(GFAP):c.1118A>C (p.Glu373Ala) http://identifiers.org/clinvar/190430 ^@ NM_016218.3(POLK):c.*66T>C http://identifiers.org/clinvar/227732 ^@ NM_006393.2(NEBL):c.2054C>T (p.Ala685Val) http://identifiers.org/clinvar/227000 ^@ NM_001142769.1(PCDH15):c.5295A>G (p.Pro1765=) http://identifiers.org/clinvar/226900 ^@ NM_001277269.1(OTOG):c.5840C>T (p.Thr1947Met) http://identifiers.org/clinvar/227682 ^@ NM_000260.3(MYO7A):c.3702C>G (p.Thr1234=) http://identifiers.org/clinvar/227832 ^@ NM_012226.4(P2RX2):c.546G>A (p.Glu182=) http://identifiers.org/clinvar/226950 ^@ NM_173591.3(OTOGL):c.5033A>G (p.Asn1678Ser) http://identifiers.org/clinvar/229322 ^@ NM_003276.2(TMPO):c.1730C>T (p.Ala577Val) http://identifiers.org/clinvar/227352 ^@ NM_001201397.1(EDNRB):c.224T>C (p.Leu75Pro) http://identifiers.org/clinvar/229272 ^@ NC_000015.10:g.(?_43600534)_(43609334_?)dup http://identifiers.org/clinvar/227632 ^@ NM_016239.3(MYO15A):c.1047C>T (p.Tyr349=) http://identifiers.org/clinvar/226850 ^@ NM_001042492.2(NF1):c.1845+13A>T http://identifiers.org/clinvar/226800 ^@ NM_003803.3(MYOM1):c.1392G>A (p.Arg464=) http://identifiers.org/clinvar/227582 ^@ NM_001145809.1(MYH14):c.858C>T (p.Gly286=) http://identifiers.org/clinvar/227252 ^@ NM_001146077.1(CLDN14):c.363C>T (p.Gly121=) http://identifiers.org/clinvar/227051 ^@ NM_080860.3(RSPH1):c.579A>G (p.Arg193=) http://identifiers.org/clinvar/226750 ^@ NM_002473.5(MYH9):c.1176G>A (p.Pro392=) http://identifiers.org/clinvar/227452 ^@ NM_021991.2(JUP):c.762C>T (p.Leu254=) http://identifiers.org/clinvar/229372 ^@ NM_144991.2(TSPEAR):c.1335A>G (p.Glu445=) http://identifiers.org/clinvar/230224 ^@ NM_003000.2(SDHB):c.445C>T (p.Gln149Ter) http://identifiers.org/clinvar/233124 ^@ NM_000465.3(BARD1):c.1107A>T (p.Lys369Asn) http://identifiers.org/clinvar/230324 ^@ NM_000465.3(BARD1):c.592G>T (p.Ala198Ser) http://identifiers.org/clinvar/229774 ^@ NM_000179.2(MSH6):c.2372G>A (p.Arg791His) http://identifiers.org/clinvar/232924 ^@ NM_000038.5(APC):c.2474A>G (p.Tyr825Cys) http://identifiers.org/clinvar/233574 ^@ NM_000038.5(APC):c.2879_2883delCAAAT (p.Ser960Terfs) http://identifiers.org/clinvar/264885 ^@ NM_000059.3(BRCA2):c.316+2009T>A http://identifiers.org/clinvar/264985 ^@ NM_000059.3(BRCA2):c.317-349A>G http://identifiers.org/clinvar/264935 ^@ NM_000059.3(BRCA2):c.8331+3223_8331+3226dup http://identifiers.org/clinvar/265244 ^@ NM_006343.2(MERTK):c.2214delT (p.Cys738Trpfs) http://identifiers.org/clinvar/265696 ^@ NM_001256850.1(TTN):c.64288_64291delCCAAinsTCT (p.Pro21430Serfs) http://identifiers.org/clinvar/265140 ^@ NM_024582.4(FAT4):c.5597C>T (p.Thr1866Met) http://identifiers.org/clinvar/265646 ^@ NM_000083.2(CLCN1):c.774+1G>A http://identifiers.org/clinvar/265395 ^@ NM_000466.2(PEX1):c.2614C>T (p.Arg872Ter) http://identifiers.org/clinvar/265191 ^@ NM_021150.3(GRIP1):c.1600A>C (p.Ile534Leu) http://identifiers.org/clinvar/265445 ^@ NM_000138.4(FBN1):c.3238delC (p.Leu1080Serfs) http://identifiers.org/clinvar/265596 ^@ NM_016373.3(WWOX):c.410-1G>A http://identifiers.org/clinvar/265037 ^@ NM_001139.2(ALOX12B):c.242delC (p.Pro81Leufs) http://identifiers.org/clinvar/265495 ^@ NM_000271.4(NPC1):c.1819C>T (p.Arg607Ter) http://identifiers.org/clinvar/265545 ^@ NM_007194.3(CHEK2):c.683+1G>C http://identifiers.org/clinvar/265090 ^@ NM_000397.3(CYBB):c.484-2A>T http://identifiers.org/clinvar/318538 ^@ NM_001083614.1(EARS2):c.*15G>C http://identifiers.org/clinvar/265785 ^@ NR_033294.1(SNORD118):n.-7_22dup http://identifiers.org/clinvar/265935 ^@ NM_174936.3(PCSK9):c.799+64C>A http://identifiers.org/clinvar/265885 ^@ NM_000384.2(APOB):c.3491G>C (p.Arg1164Thr) http://identifiers.org/clinvar/265990 ^@ NM_000352.4(ABCC8):c.4146T>G (p.Ser1382Arg) http://identifiers.org/clinvar/266041 ^@ NM_003590.4(CUL3):c.1377G>A (p.Lys459=) http://identifiers.org/clinvar/266117 ^@ NM_003632.2(CNTNAP1):c.2444C>A (p.Thr815Asn) http://identifiers.org/clinvar/266717 ^@ NM_000059.3(BRCA2):c.2748delT (p.Cys916Trpfs) http://identifiers.org/clinvar/266767 ^@ NM_000059.3(BRCA2):c.3723delT (p.Phe1241Leufs) http://identifiers.org/clinvar/266817 ^@ NM_000059.3(BRCA2):c.4476dupA (p.Glu1493Argfs) http://identifiers.org/clinvar/266417 ^@ NM_007294.3(BRCA1):c.3917delT (p.Leu1306Terfs) http://identifiers.org/clinvar/266367 ^@ NM_007294.3(BRCA1):c.3412G>T (p.Gly1138Ter) http://identifiers.org/clinvar/266317 ^@ NM_007294.3(BRCA1):c.2903_2904insTC (p.Asn969Glnfs) http://identifiers.org/clinvar/266267 ^@ NM_007294.3(BRCA1):c.2481delA (p.Gly828Alafs) http://identifiers.org/clinvar/266217 ^@ NM_007294.3(BRCA1):c.2090dupT (p.Glu699Argfs) http://identifiers.org/clinvar/266167 ^@ NM_007294.3(BRCA1):c.1419_1422delCTTA (p.Asn473Lysfs) http://identifiers.org/clinvar/267893 ^@ 46;XY;t(20;22)(q13.3;q11.2) http://identifiers.org/clinvar/267943 ^@ 46;XX;t(4;13)(q31.3;q14.3)dn http://identifiers.org/clinvar/267993 ^@ 46;XY;t(2;12)(p25.1;p11.2)dn http://identifiers.org/clinvar/268043 ^@ 46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn http://identifiers.org/clinvar/268108 ^@ NM_181789.2(GLDN):c.541+1G>A http://identifiers.org/clinvar/268172 ^@ NM_005993.4(TBCD):c.2810C>G (p.Pro937Arg) http://identifiers.org/clinvar/279589 ^@ NM_001035.2(RYR2):c.1918A>G (p.Arg640Gly) http://identifiers.org/clinvar/290896 ^@ NM_000784.3(CYP27A1):c.1263+10delG http://identifiers.org/clinvar/290946 ^@ NM_024408.3(NOTCH2):c.5214-10A>G http://identifiers.org/clinvar/290996 ^@ NM_001048166.1(STIL):c.2755C>T (p.Pro919Ser) http://identifiers.org/clinvar/291046 ^@ NM_001177317.1(SLC34A3):c.978C>T (p.Ile326=) http://identifiers.org/clinvar/291096 ^@ NM_015909.3(NBAS):c.3136G>A (p.Val1046Met) http://identifiers.org/clinvar/291146 ^@ NM_001165927.1(MKS1):c.486-10T>C http://identifiers.org/clinvar/291197 ^@ NM_000463.2(UGT1A1):c.1073A>C (p.Asn358Thr) http://identifiers.org/clinvar/291247 ^@ NM_000272.3(NPHP1):c.1309T>G (p.Trp437Gly) http://identifiers.org/clinvar/291604 ^@ NM_015074.3(KIF1B):c.*1117C>T http://identifiers.org/clinvar/291654 ^@ NM_015074.3(KIF1B):c.*3948G>A http://identifiers.org/clinvar/291754 ^@ NM_007375.3(TARDBP):c.*1622A>T http://identifiers.org/clinvar/291954 ^@ NM_002524.4(NRAS):c.*2662G>A http://identifiers.org/clinvar/291704 ^@ NM_013296.4(GPSM2):c.1263+11G>A http://identifiers.org/clinvar/292104 ^@ NM_138959.2(VANGL1):c.*6128T>C http://identifiers.org/clinvar/291904 ^@ NM_013319.2(UBIAD1):c.*1671G>A http://identifiers.org/clinvar/291854 ^@ NM_003051.3(SLC16A1):c.1342T>C (p.Leu448=) http://identifiers.org/clinvar/291804 ^@ NM_006610.3(MASP2):c.395C>T (p.Ala132Val) http://identifiers.org/clinvar/292054 ^@ NM_138959.2(VANGL1):c.*2489C>T http://identifiers.org/clinvar/292004 ^@ NM_138959.2(VANGL1):c.316G>A (p.Asp106Asn) http://identifiers.org/clinvar/293143 ^@ NM_000702.3(ATP1A2):c.*253C>T http://identifiers.org/clinvar/293793 ^@ NM_022089.3(ATP13A2):c.1309C>G (p.Leu437Val) http://identifiers.org/clinvar/293843 ^@ NM_014625.3(NPHS2):c.*209C>G http://identifiers.org/clinvar/293643 ^@ NM_000130.4(F5):c.111T>A (p.Ala37=) http://identifiers.org/clinvar/293093 ^@ NM_002241.4(KCNJ10):c.*2014_*2019dupGTGTGT http://identifiers.org/clinvar/293743 ^@ NM_000639.2(FASLG):c.*120G>A http://identifiers.org/clinvar/294093 ^@ NM_031935.2(HMCN1):c.-25dupG http://identifiers.org/clinvar/293993 ^@ NM_005562.2(LAMC2):c.503+14G>A http://identifiers.org/clinvar/294143 ^@ NM_031935.2(HMCN1):c.4382A>G (p.Asn1461Ser) http://identifiers.org/clinvar/294193 ^@ NM_031935.2(HMCN1):c.8094G>A (p.Ala2698=) http://identifiers.org/clinvar/294443 ^@ NM_024529.4(CDC73):c.*1985T>A http://identifiers.org/clinvar/294493 ^@ NM_000186.3(CFH):c.1548T>A (p.Asn516Lys) http://identifiers.org/clinvar/294543 ^@ NM_030787.3(CFHR5):c.608-3T>A http://identifiers.org/clinvar/293543 ^@ NM_000130.4(F5):c.*1939T>C http://identifiers.org/clinvar/294593 ^@ NM_018136.4(ASPM):c.10279A>G (p.Ile3427Val) http://identifiers.org/clinvar/293593 ^@ NM_000130.4(F5):c.4959T>A (p.Asp1653Glu) http://identifiers.org/clinvar/294693 ^@ NM_201253.2(CRB1):c.*158G>T http://identifiers.org/clinvar/294743 ^@ NM_000069.2(CACNA1S):c.2561A>C (p.Tyr854Ser) http://identifiers.org/clinvar/294843 ^@ NM_001005337.2(PKP1):c.*349A>G http://identifiers.org/clinvar/293693 ^@ NM_006894.5(FMO3):c.979T>G (p.Phe327Val) http://identifiers.org/clinvar/293893 ^@ NM_002065.6(GLUL):c.*2118T>C http://identifiers.org/clinvar/344924 ^@ NM_001106.3(ACVR2B):c.*133A>T http://identifiers.org/clinvar/344974 ^@ NM_001106.3(ACVR2B):c.*3090C>T http://identifiers.org/clinvar/344224 ^@ NM_031955.5(SPATA16):c.149A>G (p.Asn50Ser) http://identifiers.org/clinvar/344274 ^@ NM_181426.1(CCDC39):c.880A>G (p.Arg294Gly) http://identifiers.org/clinvar/344524 ^@ NM_000996.2(RPL35A):c.-37T>G http://identifiers.org/clinvar/345524 ^@ NM_024513.3(FYCO1):c.1464A>T (p.Ala488=) http://identifiers.org/clinvar/336955 ^@ NM_003494.3(DYSF):c.1730C>T (p.Ala577Val) http://identifiers.org/clinvar/344774 ^@ NM_015141.3(GPD1L):c.*2666G>A http://identifiers.org/clinvar/337455 ^@ NM_017849.3(TMEM127):c.*2760A>C http://identifiers.org/clinvar/337405 ^@ NM_004836.6(EIF2AK3):c.2135T>C (p.Ile712Thr) http://identifiers.org/clinvar/337505 ^@ NM_017849.3(TMEM127):c.299G>C (p.Cys100Ser) http://identifiers.org/clinvar/345374 ^@ NM_020208.3(SLC6A20):c.*1344G>A http://identifiers.org/clinvar/342285 ^@ NM_016247.3(IMPG2):c.*3049G>A http://identifiers.org/clinvar/342435 ^@ NM_000551.3(VHL):c.*1419A>G http://identifiers.org/clinvar/345574 ^@ NM_000316.2(PTH1R):c.-37G>A http://identifiers.org/clinvar/342535 ^@ NM_198196.2(CD96):c.1018G>A (p.Val340Ile) http://identifiers.org/clinvar/342635 ^@ NM_020754.3(ARHGAP31):c.843C>T (p.Gly281=) http://identifiers.org/clinvar/342585 ^@ NM_198196.2(CD96):c.*2093_*2097delAGAAA http://identifiers.org/clinvar/342785 ^@ NM_001023570.3(IQCB1):c.-147delT http://identifiers.org/clinvar/346024 ^@ NM_000481.3(AMT):c.*424G>C http://identifiers.org/clinvar/342885 ^@ NM_053025.3(MYLK):c.2829G>T (p.Arg943Ser) http://identifiers.org/clinvar/342985 ^@ NM_000373.3(UMPS):c.*2704_*2713dupTGTGTGTGTG http://identifiers.org/clinvar/343135 ^@ NM_032638.4(GATA2):c.*24G>A http://identifiers.org/clinvar/343185 ^@ NM_004637.5(RAB7A):c.*1374G>A http://identifiers.org/clinvar/343235 ^@ NM_052985.3(IFT122):c.982C>T (p.Arg328Trp) http://identifiers.org/clinvar/343335 ^@ NM_014382.3(ATP2C1):c.*326_*329delATCT http://identifiers.org/clinvar/343435 ^@ NM_001063.3(TF):c.585G>A (p.Gly195=) http://identifiers.org/clinvar/343485 ^@ NM_020191.2(MRPS22):c.327A>G (p.Ala109=) http://identifiers.org/clinvar/361889 ^@ NM_004519.3(KCNQ3):c.-135_-134dupGG http://identifiers.org/clinvar/362039 ^@ NM_006096.3(NDRG1):c.306C>T (p.Gly102=) http://identifiers.org/clinvar/362089 ^@ NM_031466.7(TRAPPC9):c.1099C>T (p.Arg367Trp) http://identifiers.org/clinvar/362189 ^@ NM_000498.3(CYP11B2):c.*239T>C http://identifiers.org/clinvar/363478 ^@ NM_017780.3(CHD7):c.7082G>A (p.Arg2361Lys) http://identifiers.org/clinvar/363628 ^@ NM_000503.5(EYA1):c.*1310G>A http://identifiers.org/clinvar/355491 ^@ NM_017651.4(AHI1):c.*218C>T http://identifiers.org/clinvar/363928 ^@ NM_153704.5(TMEM67):c.2928T>C (p.Asn976=) http://identifiers.org/clinvar/355391 ^@ NM_006208.2(ENPP1):c.*1350G>A http://identifiers.org/clinvar/355441 ^@ NM_172105.3(EYA4):c.-76C>T http://identifiers.org/clinvar/355641 ^@ NM_003764.3(STX11):c.*2920T>C http://identifiers.org/clinvar/355691 ^@ NM_203395.2(IYD):c.*461delT http://identifiers.org/clinvar/355741 ^@ NM_203395.2(IYD):c.*2535T>G http://identifiers.org/clinvar/360379 ^@ NM_014855.2(AP5Z1):c.*1266C>T http://identifiers.org/clinvar/355791 ^@ NM_203395.2(IYD):c.*6375delC http://identifiers.org/clinvar/356291 ^@ NM_001710.5(CFB):c.1593T>C (p.Asp531=) http://identifiers.org/clinvar/356091 ^@ NM_000367.4(TPMT):c.*1658C>A http://identifiers.org/clinvar/356241 ^@ NM_000063.5(C2):c.-37C>A http://identifiers.org/clinvar/361129 ^@ NM_015713.4(RRM2B):c.*3395C>G http://identifiers.org/clinvar/361379 ^@ NM_178857.5(RP1L1):c.1297C>T (p.Arg433Cys) http://identifiers.org/clinvar/361430 ^@ NM_178857.5(RP1L1):c.40C>G (p.Arg14Gly) http://identifiers.org/clinvar/361537 ^@ NM_014112.4(TRPS1):c.*4315T>G http://identifiers.org/clinvar/361480 ^@ NM_001715.2(BLK):c.424A>G (p.Ile142Val) http://identifiers.org/clinvar/366018 ^@ NM_024757.4(EHMT1):c.2664C>T (p.Leu888=) http://identifiers.org/clinvar/357080 ^@ NM_020745.3(AARS2):c.761G>C (p.Gly254Ala) http://identifiers.org/clinvar/366268 ^@ NM_002451.3(MTAP):c.*884T>A http://identifiers.org/clinvar/366618 ^@ NM_001497.3(B4GALT1):c.*2041G>A http://identifiers.org/clinvar/366718 ^@ NM_007126.3(VCP):c.1092C>T (p.Asp364=) http://identifiers.org/clinvar/366768 ^@ NM_003289.3(TPM2):c.773-5_773-3dupCCC http://identifiers.org/clinvar/366918 ^@ NM_001042413.1(GLIS3):c.*2326C>T http://identifiers.org/clinvar/364078 ^@ NM_014290.2(TDRD7):c.2791C>T (p.Pro931Ser) http://identifiers.org/clinvar/304159 ^@ NM_213599.2(ANO5):c.*3077G>C http://identifiers.org/clinvar/304259 ^@ NM_000218.2(KCNQ1):c.*742G>A http://identifiers.org/clinvar/304309 ^@ NM_000280.4(PAX6):c.*3246_*3247insTTTT http://identifiers.org/clinvar/304459 ^@ NM_003477.2(PDHX):c.-88C>A http://identifiers.org/clinvar/304609 ^@ NM_021926.3(ALX4):c.*3999C>T http://identifiers.org/clinvar/313307 ^@ NM_015915.4(ATL1):c.1623T>G (p.Ala541=) http://identifiers.org/clinvar/304809 ^@ NM_000506.4(F2):c.730G>T (p.Ala244Ser) http://identifiers.org/clinvar/313457 ^@ NM_005982.3(SIX1):c.*404A>G http://identifiers.org/clinvar/313807 ^@ NM_002382.4(MAX):c.*404C>T http://identifiers.org/clinvar/305161 ^@ NM_000327.3(ROM1):c.70C>T (p.Leu24Phe) http://identifiers.org/clinvar/305211 ^@ NM_000543.4(SMPD1):c.*183T>G http://identifiers.org/clinvar/314057 ^@ NM_031427.3(DNAL1):c.*2399G>A http://identifiers.org/clinvar/305261 ^@ NM_144585.3(SLC22A12):c.*643A>G http://identifiers.org/clinvar/299731 ^@ NM_014915.2(ANKRD26):c.4188T>C (p.Asp1396=) http://identifiers.org/clinvar/314157 ^@ NM_031427.3(DNAL1):c.*7729C>G http://identifiers.org/clinvar/305411 ^@ NM_001143985.1(BANF1):c.*209T>G http://identifiers.org/clinvar/314507 ^@ NM_013382.5(POMT2):c.*2325A>G http://identifiers.org/clinvar/300031 ^@ NM_000124.3(ERCC6):c.*53T>C http://identifiers.org/clinvar/300231 ^@ NM_000417.2(IL2RA):c.*1026G>T http://identifiers.org/clinvar/300331 ^@ NM_001083116.1(PRF1):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/299781 ^@ NM_032844.4(MASTL):c.-170C>T http://identifiers.org/clinvar/299831 ^@ NM_021252.4(RAB18):c.*504A>G http://identifiers.org/clinvar/306174 ^@ NM_000260.3(MYO7A):c.2282+5G>A http://identifiers.org/clinvar/300481 ^@ NM_022124.5(CDH23):c.*1C>G http://identifiers.org/clinvar/315496 ^@ NM_002420.5(TRPM1):c.4183G>A (p.Val1395Ile) http://identifiers.org/clinvar/300531 ^@ NM_002778.3(PSAP):c.189C>T (p.Cys63=) http://identifiers.org/clinvar/300081 ^@ NM_000124.3(ERCC6):c.1432_1433insTC (p.Lys478Ilefs) http://identifiers.org/clinvar/300131 ^@ NM_000242.2(MBL2):c.*1275T>C http://identifiers.org/clinvar/315846 ^@ NM_144508.4(KNL1):c.1291T>C (p.Ser431Pro) http://identifiers.org/clinvar/315946 ^@ NM_138477.2(CDAN1):c.1740-10T>A http://identifiers.org/clinvar/317686 ^@ NM_000246.3(CIITA):c.781C>T (p.Pro261Ser) http://identifiers.org/clinvar/318138 ^@ NM_001040114.1(MYH11):c.3880-173T>C http://identifiers.org/clinvar/318238 ^@ NM_004970.2(IGFALS):c.1466T>C (p.Val489Ala) http://identifiers.org/clinvar/318388 ^@ NM_001089.2(ABCA3):c.*203T>G http://identifiers.org/clinvar/318938 ^@ NM_000294.2(PHKG2):c.448G>A (p.Val150Met) http://identifiers.org/clinvar/338155 ^@ NM_006892.3(DNMT3B):c.341G>A (p.Arg114Gln) http://identifiers.org/clinvar/338305 ^@ NM_000178.3(GSS):c.-29T>A http://identifiers.org/clinvar/338355 ^@ NM_015474.3(SAMHD1):c.-110T>C http://identifiers.org/clinvar/338605 ^@ NM_030777.3(SLC2A10):c.*182T>G http://identifiers.org/clinvar/312957 ^@ NM_001099274.1(TINF2):c.62A>G (p.Gln21Arg) http://identifiers.org/clinvar/320128 ^@ NM_004614.4(TK2):c.*2122G>A http://identifiers.org/clinvar/338806 ^@ NM_000782.4(CYP24A1):c.*140T>C http://identifiers.org/clinvar/320278 ^@ NM_004360.4(CDH1):c.*474_*475dupTT http://identifiers.org/clinvar/320328 ^@ NM_001605.2(AARS):c.2580G>A (p.Leu860=) http://identifiers.org/clinvar/313257 ^@ NM_002408.3(MGAT2):c.971C>G (p.Thr324Ser) http://identifiers.org/clinvar/320728 ^@ NM_012213.2(MLYCD):c.734C>G (p.Thr245Ser) http://identifiers.org/clinvar/320778 ^@ NM_178452.5(DNAAF1):c.1728C>T (p.Ile576=) http://identifiers.org/clinvar/320828 ^@ NM_001451.2(FOXF1):c.*1137A>G http://identifiers.org/clinvar/339545 ^@ NM_015192.3(PLCB1):c.*2030_*2033delAGAA http://identifiers.org/clinvar/313657 ^@ NM_182914.2(SYNE2):c.20286T>C (p.Cys6762=) http://identifiers.org/clinvar/321228 ^@ NM_000303.2(PMM2):c.*96G>C http://identifiers.org/clinvar/339695 ^@ NM_000628.4(IL10RB):c.727G>A (p.Ala243Thr) http://identifiers.org/clinvar/313857 ^@ NM_015346.3(ZFYVE26):c.*960G>A http://identifiers.org/clinvar/339795 ^@ NM_001754.4(RUNX1):c.*4147C>G http://identifiers.org/clinvar/339945 ^@ NM_000411.6(HLCS):c.*1097G>A http://identifiers.org/clinvar/340145 ^@ NM_000211.4(ITGB2):c.1804G>A (p.Glu602Lys) http://identifiers.org/clinvar/340195 ^@ NM_130445.3(COL18A1):c.603C>T (p.Ala201=) http://identifiers.org/clinvar/340245 ^@ NM_130445.3(COL18A1):c.2429G>A (p.Arg810Gln) http://identifiers.org/clinvar/340295 ^@ NM_130445.3(COL18A1):c.*851C>T http://identifiers.org/clinvar/326730 ^@ NM_015559.2(SETBP1):c.874T>A (p.Ser292Thr) http://identifiers.org/clinvar/367736 ^@ NM_002294.2(LAMP2):c.*5048A>T http://identifiers.org/clinvar/326780 ^@ NM_015559.2(SETBP1):c.*2063_*2066delGATA http://identifiers.org/clinvar/328569 ^@ NM_000453.2(SLC5A5):c.*897C>T http://identifiers.org/clinvar/327080 ^@ NM_001080467.2(MYO5B):c.756+6T>C http://identifiers.org/clinvar/368286 ^@ NM_001039891.2(ZNF674):c.*1284C>T http://identifiers.org/clinvar/368336 ^@ NM_003334.3(UBA1):c.1340G>A (p.Arg447His) http://identifiers.org/clinvar/368486 ^@ NM_000084.4(CLCN5):c.1704C>T (p.Pro568=) http://identifiers.org/clinvar/329319 ^@ NM_003573.2(LTBP4):c.2771-10C>G http://identifiers.org/clinvar/368536 ^@ NM_000084.4(CLCN5):c.*6608C>T http://identifiers.org/clinvar/368586 ^@ NM_006306.3(SMC1A):c.*348C>T http://identifiers.org/clinvar/329369 ^@ NM_000709.3(BCKDHA):c.*17C>T http://identifiers.org/clinvar/368636 ^@ NM_002637.3(PHKA1):c.*1151C>T http://identifiers.org/clinvar/368786 ^@ NM_024921.3(POF1B):c.1300C>A (p.Gln434Lys) http://identifiers.org/clinvar/329719 ^@ NM_000554.5(CRX):c.*756dupT http://identifiers.org/clinvar/328619 ^@ NM_000095.2(COMP):c.620G>A (p.Gly207Asp) http://identifiers.org/clinvar/328669 ^@ NM_001031726.3(C19orf12):c.*3242C>T http://identifiers.org/clinvar/328819 ^@ NM_000285.3(PEPD):c.447C>T (p.Gly149=) http://identifiers.org/clinvar/337755 ^@ NM_000214.2(JAG1):c.1439C>T (p.Ala480Val) http://identifiers.org/clinvar/337805 ^@ NM_006363.4(SEC23B):c.*657A>G http://identifiers.org/clinvar/328919 ^@ NM_001083961.1(WDR62):c.2787C>T (p.Pro929=) http://identifiers.org/clinvar/337855 ^@ NM_000361.2(THBD):c.*1689C>T http://identifiers.org/clinvar/329219 ^@ NM_017827.3(SARS2):c.589+4G>A http://identifiers.org/clinvar/329269 ^@ NM_181882.2(PRX):c.2071A>C (p.Met691Leu) http://identifiers.org/clinvar/329469 ^@ NM_212550.4(BLOC1S3):c.-10+4C>G http://identifiers.org/clinvar/338455 ^@ NM_000457.4(HNF4A):c.*1087G>C http://identifiers.org/clinvar/329519 ^@ NM_000400.3(ERCC2):c.949+9C>T http://identifiers.org/clinvar/338555 ^@ NM_004994.2(MMP9):c.1174+14C>T http://identifiers.org/clinvar/329569 ^@ NM_025136.3(OPA3):c.*6275T>C http://identifiers.org/clinvar/338705 ^@ NM_006420.2(ARFGEF2):c.5063C>T (p.Thr1688Ile) http://identifiers.org/clinvar/339445 ^@ NM_025219.2(DNAJC5):c.*4300C>T http://identifiers.org/clinvar/339595 ^@ NM_000933.3(PLCB4):c.3498C>T (p.Gly1166=) http://identifiers.org/clinvar/339645 ^@ NM_000484.3(APP):c.592T>C (p.Ser198Pro) http://identifiers.org/clinvar/339745 ^@ NM_000219.5(KCNE1):c.*1556G>A http://identifiers.org/clinvar/337705 ^@ NM_018848.3(MKKS):c.-495C>A http://identifiers.org/clinvar/339995 ^@ NM_020639.2(RIPK4):c.*729C>T http://identifiers.org/clinvar/337905 ^@ NM_198994.2(TGM6):c.422C>A (p.Ala141Glu) http://identifiers.org/clinvar/340095 ^@ NM_000071.2(CBS):c.-160C>T http://identifiers.org/clinvar/338105 ^@ NM_015338.5(ASXL1):c.3029C>T (p.Thr1010Met) http://identifiers.org/clinvar/340445 ^@ NM_006657.2(FTCD):c.192C>T (p.Asn64=) http://identifiers.org/clinvar/340596 ^@ NM_014339.6(IL17RA):c.1400T>C (p.Leu467Pro) http://identifiers.org/clinvar/338505 ^@ NM_000022.3(ADA):c.834T>C (p.His278=) http://identifiers.org/clinvar/340646 ^@ NM_014339.6(IL17RA):c.*1826A>G http://identifiers.org/clinvar/338655 ^@ NM_000311.4(PRNP):c.*101_*103delTCT http://identifiers.org/clinvar/339395 ^@ NM_025219.2(DNAJC5):c.*1557T>G http://identifiers.org/clinvar/339495 ^@ NM_015192.3(PLCB1):c.288G>T (p.Gly96=) http://identifiers.org/clinvar/339845 ^@ NM_001754.4(RUNX1):c.*1455A>G http://identifiers.org/clinvar/339895 ^@ NM_144492.2(CLDN14):c.-75G>T http://identifiers.org/clinvar/386737 ^@ NM_014141.5(CNTNAP2):c.3990C>T (p.Leu1330=) http://identifiers.org/clinvar/377550 ^@ NM_004281.3(BAG3):c.1503C>A (p.Val501=) http://identifiers.org/clinvar/381153 ^@ NM_006393.2(NEBL):c.2518+20C>T http://identifiers.org/clinvar/384447 ^@ NM_000256.3(MYBPC3):c.240A>G (p.Ala80=) http://identifiers.org/clinvar/380852 ^@ NM_012229.4(NT5C2):c.1647C>T (p.Asp549=) http://identifiers.org/clinvar/382093 ^@ NM_000920.3(PC):c.3288+20C>T http://identifiers.org/clinvar/384097 ^@ NM_000019.3(ACAT1):c.85G>T (p.Val29Leu) http://identifiers.org/clinvar/383897 ^@ NM_000051.3(ATM):c.*1T>A http://identifiers.org/clinvar/377600 ^@ NM_152416.3(NDUFAF6):c.220T>C (p.Leu74=) http://identifiers.org/clinvar/385937 ^@ NM_000051.3(ATM):c.4615T>C (p.Leu1539=) http://identifiers.org/clinvar/378000 ^@ NM_005472.4(KCNE3):c.-40-17T>C http://identifiers.org/clinvar/380000 ^@ NM_024678.5(NARS2):c.260A>C (p.Asn87Thr) http://identifiers.org/clinvar/384497 ^@ NM_020822.2(KCNT1):c.1619+18C>T http://identifiers.org/clinvar/379950 ^@ NM_024537.3(CARS2):c.1239T>C (p.Asp413=) http://identifiers.org/clinvar/382344 ^@ NM_015531.5(C2CD3):c.265A>G (p.Arg89Gly) http://identifiers.org/clinvar/389486 ^@ NM_032634.3(PIGO):c.102G>A (p.Glu34=) http://identifiers.org/clinvar/383696 ^@ NM_002206.2(ITGA7):c.609C>T (p.Ala203=) http://identifiers.org/clinvar/382244 ^@ NM_004572.3(PKP2):c.2448C>T (p.Thr816=) http://identifiers.org/clinvar/383195 ^@ NM_000059.3(BRCA2):c.7215C>A (p.Val2405=) http://identifiers.org/clinvar/383596 ^@ NM_007078.2(LDB3):c.1858-11C>A http://identifiers.org/clinvar/386537 ^@ NM_000138.4(FBN1):c.1290A>G (p.Pro430=) http://identifiers.org/clinvar/391975 ^@ NM_194318.3(B3GLCT):c.1405G>T (p.Asp469Tyr) http://identifiers.org/clinvar/380200 ^@ NM_000051.3(ATM):c.72+6A>G http://identifiers.org/clinvar/377950 ^@ NM_005477.2(HCN4):c.1443C>T (p.Tyr481=) http://identifiers.org/clinvar/390236 ^@ NM_020778.4(ALPK3):c.597G>T (p.Glu199Asp) http://identifiers.org/clinvar/382945 ^@ NM_000059.3(BRCA2):c.7976+18C>T http://identifiers.org/clinvar/377500 ^@ NM_015915.4(ATL1):c.322A>G (p.Thr108Ala) http://identifiers.org/clinvar/380350 ^@ NM_004863.3(SPTLC2):c.1614G>A (p.Lys538=) http://identifiers.org/clinvar/381843 ^@ NM_032374.4(APOPT1):c.47T>C (p.Val16Ala) http://identifiers.org/clinvar/392625 ^@ NM_024675.3(PALB2):c.2043A>G (p.Lys681=) http://identifiers.org/clinvar/380501 ^@ NM_005050.3(ABCD4):c.815-13G>C http://identifiers.org/clinvar/392925 ^@ NM_005881.3(BCKDK):c.249C>A (p.Asp83Glu) http://identifiers.org/clinvar/392125 ^@ NM_024698.5(SLC25A22):c.743-9C>T http://identifiers.org/clinvar/392575 ^@ NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) http://identifiers.org/clinvar/390286 ^@ NM_002693.2(POLG):c.1949+3A>G http://identifiers.org/clinvar/389786 ^@ NM_000070.2(CAPN3):c.1308C>T (p.Gly436=) http://identifiers.org/clinvar/389636 ^@ NM_015386.2(COG4):c.1710+14T>C http://identifiers.org/clinvar/384397 ^@ NM_001271.3(CHD2):c.2353-10A>G http://identifiers.org/clinvar/391875 ^@ NM_000138.4(FBN1):c.4413G>A (p.Glu1471=) http://identifiers.org/clinvar/378202 ^@ NM_002474.2(MYH11):c.3168G>A (p.Leu1056=) http://identifiers.org/clinvar/378102 ^@ NM_002755.3(MAP2K1):c.1068+18G>A http://identifiers.org/clinvar/47452 ^@ NM_001256850.1(TTN):c.81378G>A (p.Lys27126=) http://identifiers.org/clinvar/47502 ^@ NM_133378.4(TTN):c.83130T>A (p.Ser27710Arg) http://identifiers.org/clinvar/47552 ^@ NM_133378.4(TTN):c.87538C>T (p.Arg29180Cys) http://identifiers.org/clinvar/47602 ^@ NM_001256850.1(TTN):c.9077A>T (p.Asn3026Ile) http://identifiers.org/clinvar/47652 ^@ NM_133378.4(TTN):c.94891A>G (p.Ile31631Val) http://identifiers.org/clinvar/47702 ^@ NM_133378.4(TTN):c.98084C>T (p.Ala32695Val) http://identifiers.org/clinvar/47752 ^@ NM_133379.4(TTN):c.13347A>G (p.Ile4449Met) http://identifiers.org/clinvar/47802 ^@ NM_133379.4(TTN):c.16432G>A (p.Val5478Met) http://identifiers.org/clinvar/47852 ^@ NM_133378.4(TTN):c.10303+2760G>A http://identifiers.org/clinvar/47902 ^@ NM_144573.3(NEXN):c.298+10T>C http://identifiers.org/clinvar/47952 ^@ NM_144672.3(OTOA):c.1630-5C>T http://identifiers.org/clinvar/48004 ^@ NM_005709.3(USH1C):c.1558G>A (p.Ala520Thr) http://identifiers.org/clinvar/48054 ^@ NM_170707.3(LMNA):c.1851C>T (p.Ala617=) http://identifiers.org/clinvar/48104 ^@ NM_000503.5(EYA1):c.1697_1698insT (p.Lys566Asnfs) http://identifiers.org/clinvar/48154 ^@ NM_178335.2(CCDC50):c.363A>T (p.Leu121Phe) http://identifiers.org/clinvar/48204 ^@ NM_194248.2(OTOF):c.2650G>A (p.Ala884Thr) http://identifiers.org/clinvar/48254 ^@ NM_194248.2(OTOF):c.5103+7C>T http://identifiers.org/clinvar/48304 ^@ NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) http://identifiers.org/clinvar/48355 ^@ NM_206933.2(USH2A):c.10712C>T (p.Thr3571Met) http://identifiers.org/clinvar/48405 ^@ NM_206933.2(USH2A):c.12714T>G (p.Tyr4238Ter) http://identifiers.org/clinvar/48455 ^@ NM_206933.2(USH2A):c.15091C>T (p.Arg5031Trp) http://identifiers.org/clinvar/48506 ^@ NM_007123.5(USH2A):c.3700A>G (p.Ile1234Val) http://identifiers.org/clinvar/628 ^@ NM_000277.1(PAH):c.1139C>T (p.Thr380Met) http://identifiers.org/clinvar/637 ^@ NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs) http://identifiers.org/clinvar/646 ^@ F5, 4-BP DEL, EX13 http://identifiers.org/clinvar/777 ^@ NM_198488.3(FAM83H):c.860C>A (p.Ser287Ter) http://identifiers.org/clinvar/786 ^@ NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) http://identifiers.org/clinvar/850 ^@ NM_080669.5(SLC46A1):c.1082-1G>A http://identifiers.org/clinvar/1041 ^@ G6PC3, 1-BP DUP, 935T http://identifiers.org/clinvar/1145 ^@ NM_014362.3(HIBCH):c.365A>G (p.Tyr122Cys) http://identifiers.org/clinvar/1190 ^@ NM_001029871.3(RSPO4):c.194A>G (p.Gln65Arg) http://identifiers.org/clinvar/1235 ^@ NM_152419.2(HGSNAT):c.525dupT (p.Val176Cysfs) http://identifiers.org/clinvar/1286 ^@ NM_017837.3(PIGV):c.766C>A (p.Gln256Lys) http://identifiers.org/clinvar/1330 ^@ BBS10, SER303 FS http://identifiers.org/clinvar/1376 ^@ NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) http://identifiers.org/clinvar/1964 ^@ NM_000022.3(ADA):c.821C>T (p.Pro274Leu) http://identifiers.org/clinvar/100009 ^@ NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn) http://identifiers.org/clinvar/10458 ^@ NM_000495.4(COL4A5):c.3428G>A (p.Gly1143Asp) http://identifiers.org/clinvar/10504 ^@ NM_020061.5(OPN1LW):c.538G= (p.Ala180=) http://identifiers.org/clinvar/10550 ^@ RP2, 1-BP INS, 303T http://identifiers.org/clinvar/10596 ^@ NM_000133.3(F9):c.710A>T (p.Gln237Leu) http://identifiers.org/clinvar/10640 ^@ NM_000133.3(F9):c.484C>T (p.Arg162Ter) http://identifiers.org/clinvar/10687 ^@ NM_000266.3(NDP):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/10731 ^@ NM_000169.2(GLA):c.806T>C (p.Val269Ala) http://identifiers.org/clinvar/10777 ^@ NM_003916.4(AP1S2):c.106C>T (p.Gln36Ter) http://identifiers.org/clinvar/10821 ^@ PHEX, IVS7, +1268, G-T http://identifiers.org/clinvar/10867 ^@ FANCB, 3314-BP DEL http://identifiers.org/clinvar/10912 ^@ BCOR, IVS8AS, G-T, -1 http://identifiers.org/clinvar/10958 ^@ NM_000475.4(NR0B1):c.1183C>T (p.Gln395Ter) http://identifiers.org/clinvar/11002 ^@ NM_000531.5(OTC):c.148G>T (p.Gly50Ter) http://identifiers.org/clinvar/11048 ^@ NM_001399.4(EDA):c.1013C>T (p.Thr338Met) http://identifiers.org/clinvar/11093 ^@ PLP1, DUP http://identifiers.org/clinvar/11138 ^@ NM_182680.1(AMELX):c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr) http://identifiers.org/clinvar/11184 ^@ NM_002621.2(CFP):c.617C>G (p.Ser206Ter) http://identifiers.org/clinvar/11229 ^@ DMD, IVS26, T-G, +2 http://identifiers.org/clinvar/11274 ^@ DMD, IVS70, G-A, +1 http://identifiers.org/clinvar/11319 ^@ NM_004085.3(TIMM8A):c.148_157delAAGCCTGGGC (p.Lys50Glnfs) http://identifiers.org/clinvar/11365 ^@ BTK, 1-BP DEL/3-BP INS, CODON 261 http://identifiers.org/clinvar/11422 ^@ NM_022567.2(NYX):c.105C>A (p.Cys35Ter) http://identifiers.org/clinvar/11472 ^@ NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) http://identifiers.org/clinvar/11524 ^@ NM_000047.2(ARSE):c.332G>C (p.Arg111Pro) http://identifiers.org/clinvar/11574 ^@ NM_004299.4(ABCB7):c.1203T>G (p.Ile401Met) http://identifiers.org/clinvar/11624 ^@ NM_004595.4(SMS):c.166G>A (p.Gly56Ser) http://identifiers.org/clinvar/11674 ^@ SMC1A, 15-BP DEL, NT173 http://identifiers.org/clinvar/11725 ^@ NM_000489.4(ATRX):c.6104A>T (p.Asp2035Val) http://identifiers.org/clinvar/11777 ^@ NM_001110556.1(FLNA):c.862G>A (p.Gly288Arg) http://identifiers.org/clinvar/11827 ^@ MECP2, 14-BP DUP, NT766 http://identifiers.org/clinvar/11877 ^@ NM_002769.4(PRSS1):c.86A>T (p.Asn29Ile) http://identifiers.org/clinvar/11927 ^@ NM_000203.4(IDUA):c.1037T>G (p.Leu346Arg) http://identifiers.org/clinvar/11977 ^@ AMT, 1-BP DEL, 183C http://identifiers.org/clinvar/12029 ^@ NM_004453.3(ETFDH):c.524G>T (p.Arg175Leu) http://identifiers.org/clinvar/12079 ^@ F7, 10-BP INS, NT-323 http://identifiers.org/clinvar/12129 ^@ C2, GLY444ARG http://identifiers.org/clinvar/12234 ^@ NM_004360.4(CDH1):c.781G>T (p.Glu261Ter) http://identifiers.org/clinvar/12285 ^@ NM_000463.2(UGT1A1):c.524T>A (p.Leu175Gln) http://identifiers.org/clinvar/12540 ^@ NM_001128177.1(THRB):c.929T>C (p.Met310Thr) http://identifiers.org/clinvar/12590 ^@ NM_004985.4(KRAS):c.101C>G (p.Pro34Arg) http://identifiers.org/clinvar/12641 ^@ NM_000458.3(HNF1B):c.1395C>G (p.Ser465Arg) http://identifiers.org/clinvar/12692 ^@ TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-T http://identifiers.org/clinvar/12743 ^@ NM_004356.3(CD81):c.561+1G>A http://identifiers.org/clinvar/36681 ^@ NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) http://identifiers.org/clinvar/36735 ^@ NM_001035.2(RYR2):c.14809-15C>G http://identifiers.org/clinvar/36786 ^@ STAT3:c.1601-72_1601-71del http://identifiers.org/clinvar/242686 ^@ NM_000570.4(FCGR3B):c.108C= (p.Ser36=) http://identifiers.org/clinvar/37563 ^@ NM_007294.3(BRCA1):c.4075C>G (p.Gln1359Glu) http://identifiers.org/clinvar/37614 ^@ NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) http://identifiers.org/clinvar/37670 ^@ NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) http://identifiers.org/clinvar/37724 ^@ NM_000059.3(BRCA2):c.1029delA (p.Lys343Asnfs) http://identifiers.org/clinvar/37775 ^@ NM_000059.3(BRCA2):c.2152G>A (p.Glu718Lys) http://identifiers.org/clinvar/37828 ^@ NM_000059.3(BRCA2):c.3218A>G (p.Gln1073Arg) http://identifiers.org/clinvar/37881 ^@ NM_000059.3(BRCA2):c.4131_4132ins6 http://identifiers.org/clinvar/37933 ^@ NM_000059.3(BRCA2):c.4921_4924delGAAA (p.Glu1641Metfs) http://identifiers.org/clinvar/37987 ^@ NM_000059.3(BRCA2):c.5672C>T (p.Ala1891Val) http://identifiers.org/clinvar/38039 ^@ NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) http://identifiers.org/clinvar/38092 ^@ NM_000059.3(BRCA2):c.740_741insAG (p.Ser249Leufs) http://identifiers.org/clinvar/38142 ^@ NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) http://identifiers.org/clinvar/38192 ^@ NM_000059.3(BRCA2):c.8904delC (p.Val2969Cysfs) http://identifiers.org/clinvar/38242 ^@ NM_000059.3(BRCA2):c.9501+3A>T http://identifiers.org/clinvar/38304 ^@ NM_000168.5(GLI3):c.2058_2059delGGinsAT (p.Glu687Ter) http://identifiers.org/clinvar/38359 ^@ NM_002437.4(MPV17):c.70+5G>A http://identifiers.org/clinvar/38416 ^@ NM_024312.4(GNPTAB):c.1985C>G (p.Ala662Gly) http://identifiers.org/clinvar/38744 ^@ NM_000495.3(COL4A5):c.1-?_5058+?del http://identifiers.org/clinvar/38794 ^@ NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His) http://identifiers.org/clinvar/38918 ^@ NM_001099274.1(TINF2):c.841G>A (p.Glu281Lys) http://identifiers.org/clinvar/38968 ^@ NM_003722.4(TP63):c.1846delC (p.Leu616Serfs) http://identifiers.org/clinvar/39020 ^@ NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu) http://identifiers.org/clinvar/39070 ^@ NM_024312.4(GNPTAB):c.3328dupA (p.Tyr1111Ilefs) http://identifiers.org/clinvar/39127 ^@ NM_198253.2(TERT):c.97C>T (p.Pro33Ser) http://identifiers.org/clinvar/39177 ^@ NM_198578.3(LRRK2):c.4125C>A (p.Asp1375Glu) http://identifiers.org/clinvar/39227 ^@ NM_198578.3(LRRK2):c.6428G>A (p.Arg2143His) http://identifiers.org/clinvar/39278 ^@ NM_198578.3(LRRK2):c.6523G>C (p.Asp2175His) http://identifiers.org/clinvar/39440 ^@ NM_198506.4(LRIT3):c.1151C>G (p.Ser384Ter) http://identifiers.org/clinvar/39492 ^@ NM_004826.3(ECEL1):c.1252C>T (p.Arg418Cys) http://identifiers.org/clinvar/39542 ^@ NM_001139.2(ALOX12B):c.410T>A (p.Ile137Asn) http://identifiers.org/clinvar/40003 ^@ NM_003573.2(LTBP4):c.4115dupC (p.Tyr1373Ilefs) http://identifiers.org/clinvar/40163 ^@ NM_001014431.1(AKT1):c.1303A>C (p.Thr435Pro) http://identifiers.org/clinvar/52565 ^@ NM_000059.3(BRCA2):c.8363G>C (p.Trp2788Ser) http://identifiers.org/clinvar/52667 ^@ NM_000059.3(BRCA2):c.8754+1G>A http://identifiers.org/clinvar/52717 ^@ NM_000059.3(BRCA2):c.8978C>A (p.Ser2993Ter) http://identifiers.org/clinvar/52768 ^@ NM_000059.3(BRCA2):c.9177delA (p.Lys3059Asnfs) http://identifiers.org/clinvar/52819 ^@ NM_000059.3(BRCA2):c.9356T>G (p.Leu3119Ter) http://identifiers.org/clinvar/52870 ^@ NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs) http://identifiers.org/clinvar/53020 ^@ NM_000218.2(KCNQ1):c.1842_1844delCCA (p.His614del) http://identifiers.org/clinvar/53070 ^@ NM_000218.2(KCNQ1):c.568C>T (p.Arg190Trp) http://identifiers.org/clinvar/53121 ^@ NM_000218.2(KCNQ1):c.904G>A (p.Ala302Thr) http://identifiers.org/clinvar/53173 ^@ NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) http://identifiers.org/clinvar/53224 ^@ NM_000492.3(CFTR):c.1253A>G (p.Asn418Ser) http://identifiers.org/clinvar/53276 ^@ NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) http://identifiers.org/clinvar/53327 ^@ NM_000492.3(CFTR):c.1674delA (p.Ala559Glnfs) http://identifiers.org/clinvar/53377 ^@ NM_000492.3(CFTR):c.1766+1G>T http://identifiers.org/clinvar/53428 ^@ NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) http://identifiers.org/clinvar/53482 ^@ NM_000492.3(CFTR):c.236G>A (p.Trp79Ter) http://identifiers.org/clinvar/53532 ^@ NM_000492.3(CFTR):c.263T>A (p.Leu88Ter) http://identifiers.org/clinvar/53582 ^@ NM_000492.3(CFTR):c.2861A>C (p.His954Pro) http://identifiers.org/clinvar/53633 ^@ NM_000492.3(CFTR):c.302T>G (p.Leu101Ter) http://identifiers.org/clinvar/53685 ^@ NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) http://identifiers.org/clinvar/53735 ^@ NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) http://identifiers.org/clinvar/53786 ^@ NM_000492.3(CFTR):c.364T>C (p.Tyr122His) http://identifiers.org/clinvar/53839 ^@ NM_000492.3(CFTR):c.3883delA (p.Ile1295Phefs) http://identifiers.org/clinvar/53890 ^@ NM_000492.3(CFTR):c.410T>G (p.Leu137Arg) http://identifiers.org/clinvar/53941 ^@ NM_000492.3(CFTR):c.4333G>A (p.Asp1445Asn) http://identifiers.org/clinvar/53991 ^@ NM_000492.3(CFTR):c.531delT (p.Ile177Metfs) http://identifiers.org/clinvar/54041 ^@ NM_000492.3(CFTR):c.695T>A (p.Val232Asp) http://identifiers.org/clinvar/54093 ^@ NM_000492.3(CFTR):c.95T>C (p.Leu32Pro) http://identifiers.org/clinvar/54243 ^@ NM_007294.3(BRCA1):c.1403delA (p.Lys468Argfs) http://identifiers.org/clinvar/54294 ^@ NM_007294.3(BRCA1):c.1565_1566insC (p.Leu523Phefs) http://identifiers.org/clinvar/54344 ^@ NM_007294.3(BRCA1):c.1768A>G (p.Ser590Gly) http://identifiers.org/clinvar/54395 ^@ NM_007294.3(BRCA1):c.190_193delTGTA (p.Cys64Argfs) http://identifiers.org/clinvar/54445 ^@ NM_007294.3(BRCA1):c.203T>G (p.Ile68Arg) http://identifiers.org/clinvar/54495 ^@ NM_007294.3(BRCA1):c.2197_2201delGAGAA (p.Glu733Thrfs) http://identifiers.org/clinvar/54545 ^@ NM_007294.3(BRCA1):c.2354T>A (p.Leu785Ter) http://identifiers.org/clinvar/55240 ^@ NM_007294.3(BRCA1):c.4618G>T (p.Glu1540Ter) http://identifiers.org/clinvar/55291 ^@ NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter) http://identifiers.org/clinvar/55341 ^@ NM_007294.3(BRCA1):c.4986+3G>C http://identifiers.org/clinvar/55391 ^@ NM_007294.3(BRCA1):c.5087T>A (p.Val1696Glu) http://identifiers.org/clinvar/55441 ^@ NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) http://identifiers.org/clinvar/55492 ^@ NM_007294.3(BRCA1):c.5270_5276delACAGAAA (p.Asp1757Glyfs) http://identifiers.org/clinvar/55544 ^@ NM_007294.3(BRCA1):c.5345G>A (p.Trp1782Ter) http://identifiers.org/clinvar/55594 ^@ NM_007294.3(BRCA1):c.5488G>A (p.Ala1830Thr) http://identifiers.org/clinvar/55644 ^@ NM_007294.3(BRCA1):c.594-2A>G http://identifiers.org/clinvar/55697 ^@ NM_007294.3(BRCA1):c.775delG (p.Glu259Lysfs) http://identifiers.org/clinvar/55748 ^@ NM_007294.3(BRCA1):c.903_904insC (p.Ala302Argfs) http://identifiers.org/clinvar/55816 ^@ NM_001278689.1(EOGT):c.620G>C (p.Trp207Ser) http://identifiers.org/clinvar/55882 ^@ NM_001258221.1(KCTD1):c.92C>G (p.Pro31Arg) http://identifiers.org/clinvar/55956 ^@ NM_000100.3(CSTB):c.-210_-199(30_125) http://identifiers.org/clinvar/56006 ^@ NM_000111.2(SLC26A3):c.610T>G (p.Tyr204Asp) http://identifiers.org/clinvar/56059 ^@ NM_000170.2(GLDC):c.2105C>T (p.Thr702Ile) http://identifiers.org/clinvar/56110 ^@ NM_000170.2(GLDC):c.985C>A (p.Pro329Thr) http://identifiers.org/clinvar/56165 ^@ NM_000224.2(KRT18):c.1230C>G (p.Thr410=) http://identifiers.org/clinvar/56215 ^@ NM_000310.3(PPT1):c.749G>T (p.Gly250Val) http://identifiers.org/clinvar/56266 ^@ NM_001042432.1(CLN3):c.378_379dupCC (p.Arg127Profs) http://identifiers.org/clinvar/56318 ^@ NM_001081.3(CUBN):c.1230+1G>A http://identifiers.org/clinvar/56368 ^@ NM_001126105.2(SLC7A7):c.454T>C (p.Phe152Leu) http://identifiers.org/clinvar/56420 ^@ NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg) http://identifiers.org/clinvar/56470 ^@ NM_004646.3(NPHS1):c.2227delC (p.Arg743Valfs) http://identifiers.org/clinvar/56520 ^@ NM_004646.3(NPHS1):c.692C>A (p.Ser231Ter) http://identifiers.org/clinvar/56571 ^@ NM_015294.4(TRIM37):c.810-1G>A http://identifiers.org/clinvar/56629 ^@ NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs) http://identifiers.org/clinvar/101177 ^@ NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser) http://identifiers.org/clinvar/101227 ^@ NP_000081.1:p.Gly177_Pro194del http://identifiers.org/clinvar/101277 ^@ NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg) http://identifiers.org/clinvar/101327 ^@ NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg) http://identifiers.org/clinvar/103105 ^@ NM_006092.2(NOD1):c.2537+394T>A http://identifiers.org/clinvar/103155 ^@ NM_032206.4(NLRC5):c.1625C>A (p.Thr542Asn) http://identifiers.org/clinvar/103205 ^@ NM_032206.4(NLRC5):c.5237+51G>A http://identifiers.org/clinvar/103255 ^@ NM_138329.2(NLRP6):c.582G>A (p.Arg194=) http://identifiers.org/clinvar/103305 ^@ NM_176810.2(NLRP13):c.2037G>T (p.Lys679Asn) http://identifiers.org/clinvar/103355 ^@ NM_178844.3(NLRC3):c.1487G>A (p.Arg496Lys) http://identifiers.org/clinvar/111229 ^@ NM_000619.2(IFNG):c.367-419T>C http://identifiers.org/clinvar/120089 ^@ NM_000237.2(LPL):c.*364A>C http://identifiers.org/clinvar/120241 ^@ NM_017637.5(BNC2):c.501C>T (p.Val167=) http://identifiers.org/clinvar/120291 ^@ NM_000277.1(PAH):c.887A>G (p.Asp296Gly) http://identifiers.org/clinvar/125448 ^@ NM_001080442.2(SLC38A8):c.845_847delCTG (p.Ala282del) http://identifiers.org/clinvar/125516 ^@ NM_007294.3(BRCA1):c.80+1G>C http://identifiers.org/clinvar/125597 ^@ NM_007294.3(BRCA1):c.2995_2996delCTinsTA (p.Leu999Ter) http://identifiers.org/clinvar/125671 ^@ NM_007294.3(BRCA1):c.302-87T>C http://identifiers.org/clinvar/125732 ^@ NM_007294.3(BRCA1):c.4843dupG (p.Ala1615Glyfs) http://identifiers.org/clinvar/125809 ^@ U14680.1:n.5389_5395delCAGAAAG http://identifiers.org/clinvar/125871 ^@ NM_007294.3(BRCA1):c.5563delAins6 http://identifiers.org/clinvar/125934 ^@ NM_000059.3(BRCA2):c.1114A= (p.Asn372=) http://identifiers.org/clinvar/125998 ^@ NM_000059.3(BRCA2):c.2899_2900delCT (p.Leu967Argfs) http://identifiers.org/clinvar/126065 ^@ NM_000059.3(BRCA2):c.5270_5286del17 (p.Tyr1757Serfs) http://identifiers.org/clinvar/126136 ^@ NM_000059.3(BRCA2):c.7435+53C>T http://identifiers.org/clinvar/126194 ^@ NM_000059.3(BRCA2):c.8954-1del3insAA http://identifiers.org/clinvar/126254 ^@ NM_025114.3(CEP290):c.297+36A>G http://identifiers.org/clinvar/126304 ^@ NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) http://identifiers.org/clinvar/126355 ^@ NM_001128849.1(SMARCA4):c.1114T>C (p.Tyr372His) http://identifiers.org/clinvar/126411 ^@ NM_015474.3(SAMHD1):c.428G>A (p.Arg143His) http://identifiers.org/clinvar/127392 ^@ NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) http://identifiers.org/clinvar/127442 ^@ NM_000051.3(ATM):c.7354C>G (p.Leu2452Val) http://identifiers.org/clinvar/127493 ^@ NM_000057.3(BLM):c.274A>G (p.Asn92Asp) http://identifiers.org/clinvar/127543 ^@ NM_000136.2(FANCC):c.542C>T (p.Ala181Val) http://identifiers.org/clinvar/127753 ^@ NM_000535.6(PMS2):c.1096G>C (p.Asp366His) http://identifiers.org/clinvar/160371 ^@ NM_003051.3(SLC16A1):c.747_750delTAAT (p.Asn250Serfs) http://identifiers.org/clinvar/160823 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 http://identifiers.org/clinvar/160875 ^@ GRCh38/hg38 17p12(chr17:14208455-15538752)x1 http://identifiers.org/clinvar/160927 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 http://identifiers.org/clinvar/160978 ^@ GRCh38/hg38 8p23.1(chr8:12182421-12610034)x1 http://identifiers.org/clinvar/161029 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3 http://identifiers.org/clinvar/161079 ^@ GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 http://identifiers.org/clinvar/161129 ^@ NM_152296.4(ATP1A3):c.1072G>T (p.Gly358Cys) http://identifiers.org/clinvar/161211 ^@ NM_000724.3(CACNB2):c.476G>C (p.Ser159Thr) http://identifiers.org/clinvar/161311 ^@ NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) http://identifiers.org/clinvar/161261 ^@ NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) http://identifiers.org/clinvar/161361 ^@ NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) http://identifiers.org/clinvar/161418 ^@ NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) http://identifiers.org/clinvar/161730 ^@ NM_020190.4(OLFML3):c.402C>G (p.Asp134Glu) http://identifiers.org/clinvar/161780 ^@ NM_031935.2(HMCN1):c.16792C>T (p.Arg5598Ter) http://identifiers.org/clinvar/161830 ^@ NM_173550.3(CCDC171):c.2404C>T (p.Arg802Trp) http://identifiers.org/clinvar/161480 ^@ NM_001004470.2(ST8SIA6):c.344G>T (p.Trp115Leu) http://identifiers.org/clinvar/161530 ^@ NM_001143773.1(FAM13C):c.1178T>A (p.Leu393His) http://identifiers.org/clinvar/161580 ^@ NM_001372.3(DNAH9):c.3184A>G (p.Ile1062Val) http://identifiers.org/clinvar/161680 ^@ NM_014680.3(KIAA0100):c.3387G>A (p.Trp1129Ter) http://identifiers.org/clinvar/161630 ^@ NM_005177.3(ATP6V0A1):c.1023+1G>T http://identifiers.org/clinvar/177778 ^@ NM_002524.4(NRAS):c.34G>A (p.Gly12Ser) http://identifiers.org/clinvar/178580 ^@ NM_206933.2(USH2A):c.5496G>A (p.Val1832=) http://identifiers.org/clinvar/165099 ^@ NM_001035.2(RYR2):c.5006A>G (p.Asn1669Ser) http://identifiers.org/clinvar/178180 ^@ NM_001256850.1(TTN):c.80593C>A (p.Gln26865Lys) http://identifiers.org/clinvar/165810 ^@ NM_001267550.2(TTN):c.80997_81012del16 (p.Tyr26999Terfs) http://identifiers.org/clinvar/165912 ^@ NM_133378.4(TTN):c.55239T>C (p.Thr18413=) http://identifiers.org/clinvar/166479 ^@ NM_206933.2(USH2A):c.6730G>A (p.Val2244Met) http://identifiers.org/clinvar/178230 ^@ NM_133378.4(TTN):c.27125T>C (p.Ile9042Thr) http://identifiers.org/clinvar/166111 ^@ NM_133378.4(TTN):c.28783G>T (p.Ala9595Ser) http://identifiers.org/clinvar/166242 ^@ NM_133432.3(TTN):c.11042C>T (p.Thr3681Ile) http://identifiers.org/clinvar/166352 ^@ NM_133378.4(TTN):c.1349C>T (p.Ala450Val) http://identifiers.org/clinvar/180038 ^@ NM_194248.2(OTOF):c.3303G>A (p.Gly1101=) http://identifiers.org/clinvar/164867 ^@ NM_194322.2(OTOF):c.178A>G (p.Lys60Glu) http://identifiers.org/clinvar/178748 ^@ NM_001369.2(DNAH5):c.6731A>T (p.Lys2244Met) http://identifiers.org/clinvar/165986 ^@ NM_133378.4(TTN):c.45878-6C>G http://identifiers.org/clinvar/177828 ^@ NM_003242.5(TGFBR2):c.-8G>A http://identifiers.org/clinvar/178130 ^@ NM_198056.2(SCN5A):c.3262G>A (p.Ala1088Thr) http://identifiers.org/clinvar/179888 ^@ NM_000258.2(MYL3):c.*5C>T http://identifiers.org/clinvar/164491 ^@ NM_000258.2(MYL3):c.4G>C (p.Ala2Pro) http://identifiers.org/clinvar/178030 ^@ NM_004415.3(DSP):c.3862A>C (p.Lys1288Gln) http://identifiers.org/clinvar/163700 ^@ NM_001199799.1(ILDR1):c.483A>T (p.Val161=) http://identifiers.org/clinvar/166568 ^@ NM_006005.3(WFS1):c.128C>T (p.Ala43Val) http://identifiers.org/clinvar/165251 ^@ NM_000441.1(SLC26A4):c.1342-10C>T http://identifiers.org/clinvar/164647 ^@ NM_004999.3(MYO6):c.3505C>T (p.Arg1169Cys) http://identifiers.org/clinvar/177878 ^@ NM_004333.4(BRAF):c.1449A>C (p.Lys483Asn) http://identifiers.org/clinvar/178380 ^@ NM_000601.5(HGF):c.1891G>A (p.Val631Met) http://identifiers.org/clinvar/163426 ^@ NC_000008.11:g.(?_71199264)_(71356523_?)del http://identifiers.org/clinvar/179738 ^@ NM_000337.5(SGCD):c.45T>A (p.Pro15=) http://identifiers.org/clinvar/201216 ^@ NM_001035.2(RYR2):c.1342C>G (p.Pro448Ala) http://identifiers.org/clinvar/201163 ^@ NM_001035.2(RYR2):c.2397-16C>T http://identifiers.org/clinvar/201387 ^@ NM_001035.2(RYR2):c.6916G>A (p.Val2306Ile) http://identifiers.org/clinvar/201274 ^@ NM_001035.2(RYR2):c.7114C>A (p.Leu2372Ile) http://identifiers.org/clinvar/201328 ^@ NM_001035.2(RYR2):c.12298G>A (p.Val4100Ile) http://identifiers.org/clinvar/201496 ^@ NM_198056.2(SCN5A):c.3541G>T (p.Val1181Leu) http://identifiers.org/clinvar/201555 ^@ NM_198056.2(SCN5A):c.1711delA (p.Ser571Valfs) http://identifiers.org/clinvar/201441 ^@ NM_198056.2(SCN5A):c.680T>C (p.Leu227Pro) http://identifiers.org/clinvar/201097 ^@ NM_002474.2(MYH11):c.301G>A (p.Val101Met) http://identifiers.org/clinvar/201614 ^@ NM_020297.3(ABCC9):c.1252G>A (p.Ala418Thr) http://identifiers.org/clinvar/242584 ^@ NM_001080522.2(CC2D2A):c.4595_4596delCT (p.Leu1533Valfs) http://identifiers.org/clinvar/229685 ^@ NM_005732.3(RAD50):c.1487A>C (p.Asn496Thr) http://identifiers.org/clinvar/234077 ^@ NM_000535.6(PMS2):c.1352G>A (p.Arg451Lys) http://identifiers.org/clinvar/233977 ^@ NM_000051.3(ATM):c.1628C>T (p.Thr543Ile) http://identifiers.org/clinvar/233776 ^@ NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser) http://identifiers.org/clinvar/232885 ^@ NM_005591.3(MRE11):c.924C>T (p.Phe308=) http://identifiers.org/clinvar/229735 ^@ NM_000059.3(BRCA2):c.6030C>A (p.Val2010=) http://identifiers.org/clinvar/233724 ^@ NM_000059.3(BRCA2):c.9233delT (p.Val3078Alafs) http://identifiers.org/clinvar/234027 ^@ NM_000548.4(TSC2):c.849-4T>C http://identifiers.org/clinvar/233927 ^@ NM_001042492.2(NF1):c.3258G>A (p.Gln1086=) http://identifiers.org/clinvar/233826 ^@ NM_001042492.2(NF1):c.3796G>C (p.Glu1266Gln) http://identifiers.org/clinvar/234177 ^@ NM_002878.3(RAD51D):c.66C>T (p.Ser22=) http://identifiers.org/clinvar/233877 ^@ NM_007294.3(BRCA1):c.5193G>A (p.Glu1731=) http://identifiers.org/clinvar/233624 ^@ NM_007294.3(BRCA1):c.4063A>G (p.Asn1355Asp) http://identifiers.org/clinvar/234227 ^@ NM_007294.3(BRCA1):c.3834G>A (p.Lys1278=) http://identifiers.org/clinvar/233035 ^@ NM_007294.3(BRCA1):c.3139_3180del42 (p.Val1047_Glu1060del) http://identifiers.org/clinvar/232835 ^@ NM_007194.3(CHEK2):c.86A>G (p.Gln29Arg) http://identifiers.org/clinvar/235052 ^@ NM_001035.2(RYR2):c.13763T>C (p.Ile4588Thr) http://identifiers.org/clinvar/235002 ^@ NM_002294.2(LAMP2):c.1201A>G (p.Lys401Glu) http://identifiers.org/clinvar/235131 ^@ NM_144596.3(TTC8):c.1347G>C (p.Gln449His) http://identifiers.org/clinvar/235662 ^@ NM_000495.4(COL4A5):c.2723G>A (p.Gly908Glu) http://identifiers.org/clinvar/242003 ^@ NM_170707.3(LMNA):c.1517A>C (p.His506Pro) http://identifiers.org/clinvar/239110 ^@ NM_002241.4(KCNJ10):c.136G>A (p.Asp46Asn) http://identifiers.org/clinvar/237117 ^@ NM_000143.3(FH):c.701C>T (p.Thr234Ile) http://identifiers.org/clinvar/239563 ^@ NM_003738.4(PTCH2):c.90G>A (p.Leu30=) http://identifiers.org/clinvar/240714 ^@ NM_006922.3(SCN3A):c.552G>A (p.Thr184=) http://identifiers.org/clinvar/238859 ^@ NM_001267550.2(TTN):c.88033A>G (p.Thr29345Ala) http://identifiers.org/clinvar/238809 ^@ NM_001267550.2(TTN):c.58329T>C (p.Ala19443=) http://identifiers.org/clinvar/237820 ^@ NM_000465.3(BARD1):c.1499A>T (p.Asp500Val) http://identifiers.org/clinvar/239813 ^@ NM_004304.4(ALK):c.2750C>T (p.Thr917Ile) http://identifiers.org/clinvar/237369 ^@ NM_000251.2(MSH2):c.1404_1410delCCTTGTA (p.Phe468Leufs) http://identifiers.org/clinvar/237219 ^@ NM_000179.2(MSH6):c.98G>C (p.Arg33Pro) http://identifiers.org/clinvar/237168 ^@ NM_000179.2(MSH6):c.2830A>G (p.Ile944Val) http://identifiers.org/clinvar/237319 ^@ NM_000249.3(MLH1):c.1732-?_*193+?dup http://identifiers.org/clinvar/237770 ^@ NM_000388.3(CASR):c.427G>A (p.Gly143Arg) http://identifiers.org/clinvar/241753 ^@ NM_053025.3(MYLK):c.2023G>A (p.Gly675Arg) http://identifiers.org/clinvar/242203 ^@ NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) http://identifiers.org/clinvar/240664 ^@ NM_006514.3(SCN10A):c.2475A>C (p.Glu825Asp) http://identifiers.org/clinvar/240063 ^@ NM_004656.3(BAP1):c.581-9C>G http://identifiers.org/clinvar/240314 ^@ NM_006206.4(PDGFRA):c.1673G>A (p.Arg558His) http://identifiers.org/clinvar/237269 ^@ NM_000222.2(KIT):c.2793C>T (p.Ser931=) http://identifiers.org/clinvar/241853 ^@ NM_139076.2(FAM175A):c.1102_1104delAAA (p.Lys368del) http://identifiers.org/clinvar/240214 ^@ NM_005732.3(RAD50):c.1690A>C (p.Thr564Pro) http://identifiers.org/clinvar/238959 ^@ NM_001369.2(DNAH5):c.12472C>T (p.Arg4158Trp) http://identifiers.org/clinvar/239060 ^@ NM_001903.4(CTNNA1):c.1782C>T (p.Ala594=) http://identifiers.org/clinvar/241503 ^@ NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) http://identifiers.org/clinvar/239663 ^@ NM_004168.3(SDHA):c.219C>G (p.Gly73=) http://identifiers.org/clinvar/239410 ^@ NM_002890.2(RASA1):c.1651G>A (p.Glu551Lys) http://identifiers.org/clinvar/239513 ^@ NM_003227.3(TFR2):c.1473G>A (p.Glu491=) http://identifiers.org/clinvar/238909 ^@ NM_001277115.1(DNAH11):c.3291C>A (p.Ser1097Arg) http://identifiers.org/clinvar/261802 ^@ NM_025074.6(FRAS1):c.11056C>T (p.Leu3686=) http://identifiers.org/clinvar/257973 ^@ NM_001369.2(DNAH5):c.10878G>A (p.Thr3626=) http://identifiers.org/clinvar/258023 ^@ NM_001369.2(DNAH5):c.3843T>C (p.Tyr1281=) http://identifiers.org/clinvar/258073 ^@ NM_001369.2(DNAH5):c.976-31C>T http://identifiers.org/clinvar/257373 ^@ NM_001080479.2(ARHGEF28):c.4642C>T (p.Pro1548Ser) http://identifiers.org/clinvar/259362 ^@ NM_004385.4(VCAN):c.2234A>C (p.Lys745Thr) http://identifiers.org/clinvar/259162 ^@ NM_003764.3(STX11):c.546G>A (p.Glu182=) http://identifiers.org/clinvar/262152 ^@ NM_033071.3(SYNE1):c.10166+12T>C http://identifiers.org/clinvar/262202 ^@ NM_033071.3(SYNE1):c.9168-13G>A http://identifiers.org/clinvar/257573 ^@ NM_001145717.1(PNPLA1):c.504+11C>T http://identifiers.org/clinvar/262402 ^@ NM_138694.3(PKHD1):c.391-43T>A http://identifiers.org/clinvar/255184 ^@ NM_000129.3(F13A1):c.1704A>G (p.Glu568=) http://identifiers.org/clinvar/259612 ^@ NM_005045.3(RELN):c.7181-34G>A http://identifiers.org/clinvar/260263 ^@ NM_012470.3(TNPO3):c.2280T>C (p.Ile760=) http://identifiers.org/clinvar/257923 ^@ NM_001277115.1(DNAH11):c.6889C>T (p.Leu2297=) http://identifiers.org/clinvar/257873 ^@ NM_001277115.1(DNAH11):c.13548G>A (p.Ala4516=) http://identifiers.org/clinvar/261952 ^@ NM_031243.2(HNRNPA2B1):c.1038T>G (p.Gly346=) http://identifiers.org/clinvar/260763 ^@ NM_016616.4(NME8):c.528+46_528+48delAAC http://identifiers.org/clinvar/255434 ^@ NM_000168.5(GLI3):c.3001G>A (p.Gly1001Ser) http://identifiers.org/clinvar/262802 ^@ NM_172218.2(SPAG1):c.2330T>C (p.Met777Thr) http://identifiers.org/clinvar/262752 ^@ NM_153704.5(TMEM67):c.506+18G>T http://identifiers.org/clinvar/262652 ^@ NM_152564.4(VPS13B):c.10061+24G>A http://identifiers.org/clinvar/258173 ^@ NM_001701.3(BAAT):c.602G>C (p.Arg201Pro) http://identifiers.org/clinvar/259112 ^@ NM_003640.4(IKBKAP):c.3214T>A (p.Cys1072Ser) http://identifiers.org/clinvar/259813 ^@ NM_005592.3(MUSK):c.920+25delT http://identifiers.org/clinvar/255134 ^@ NM_000113.2(TOR1A):c.246C>T (p.Ala82=) http://identifiers.org/clinvar/262452 ^@ NM_139025.4(ADAMTS13):c.582C>T (p.Gly194=) http://identifiers.org/clinvar/255084 ^@ NM_000093.4(COL5A1):c.4176+19A>C http://identifiers.org/clinvar/257523 ^@ NM_001128227.2(GNE):c.1374+44G>A http://identifiers.org/clinvar/260213 ^@ NM_012203.1(GRHPR):c.493+9C>T http://identifiers.org/clinvar/257273 ^@ NM_001042413.1(GLIS3):c.171C>T (p.Asn57=) http://identifiers.org/clinvar/262852 ^@ NM_173551.4(ANKS6):c.537A>G (p.Gln179=) http://identifiers.org/clinvar/259262 ^@ NM_004281.3(BAG3):c.180+43C>T http://identifiers.org/clinvar/254734 ^@ NM_000043.5(FAS):c.642T>C (p.Thr214=) http://identifiers.org/clinvar/260713 ^@ NM_016341.3(PLCE1):c.1729G>A (p.Ala577Thr) http://identifiers.org/clinvar/259462 ^@ NM_004621.5(TRPC6):c.2712G>A (p.Gln904=) http://identifiers.org/clinvar/255484 ^@ NM_000190.3(HMBS):c.-235T>A http://identifiers.org/clinvar/257673 ^@ NM_001254757.1(ST3GAL4):c.252C>T (p.Tyr84=) http://identifiers.org/clinvar/261752 ^@ NM_024649.4(BBS1):c.724-16C>T http://identifiers.org/clinvar/258223 ^@ NM_001844.4(COL2A1):c.2094+7A>G http://identifiers.org/clinvar/259062 ^@ NM_003482.3(KMT2D):c.8547C>T (p.Ala2849=) http://identifiers.org/clinvar/261852 ^@ NM_025114.3(CEP290):c.6646-16T>C http://identifiers.org/clinvar/262252 ^@ NM_052867.2(NALCN):c.2118+9T>C http://identifiers.org/clinvar/260163 ^@ NM_007374.2(SIX6):c.421C>A (p.His141Asn) http://identifiers.org/clinvar/257123 ^@ NM_001024858.2(SPTB):c.4641G>A (p.Ala1547=) http://identifiers.org/clinvar/332508 ^@ NM_003659.3(AGPS):c.-14A>G http://identifiers.org/clinvar/332858 ^@ NM_133378.4(TTN):c.39069T>C (p.Tyr13023=) http://identifiers.org/clinvar/333008 ^@ NM_201548.4(CERKL):c.848T>C (p.Leu283Pro) http://identifiers.org/clinvar/332908 ^@ NM_133378.4(TTN):c.22774C>T (p.Pro7592Ser) http://identifiers.org/clinvar/333508 ^@ NM_001228.4(CASP8):c.1359C>T (p.Gly453=) http://identifiers.org/clinvar/333258 ^@ NM_007315.3(STAT1):c.*535C>T http://identifiers.org/clinvar/336516 ^@ NM_001135659.2(NRXN1):c.*1723_*1724delAT http://identifiers.org/clinvar/333308 ^@ NM_002156.4(HSPD1):c.869+12T>C http://identifiers.org/clinvar/336566 ^@ NM_001135659.2(NRXN1):c.-453T>C http://identifiers.org/clinvar/333358 ^@ NM_001006657.1(WDR35):c.*795C>T http://identifiers.org/clinvar/336716 ^@ NM_032180.2(FAM161A):c.*1144T>G http://identifiers.org/clinvar/333458 ^@ NM_032977.3(CASP10):c.*1043C>T http://identifiers.org/clinvar/336916 ^@ NM_001692.3(ATP6V1B1):c.-17C>T http://identifiers.org/clinvar/333708 ^@ NM_001204.6(BMPR2):c.*5243T>C http://identifiers.org/clinvar/337066 ^@ NM_004082.4(DCTN1):c.*21C>T http://identifiers.org/clinvar/337216 ^@ NM_000821.6(GGCX):c.*2408T>C http://identifiers.org/clinvar/336466 ^@ NM_000233.3(LHCGR):c.430G>A (p.Val144Ile) http://identifiers.org/clinvar/336766 ^@ NM_015910.5(WDPCP):c.1094A>G (p.Glu365Gly) http://identifiers.org/clinvar/336816 ^@ NM_002056.3(GFPT1):c.*3345C>T http://identifiers.org/clinvar/334649 ^@ NM_000092.4(COL4A4):c.*4102dupT http://identifiers.org/clinvar/334499 ^@ NM_015311.2(OBSL1):c.2817G>A (p.Val939=) http://identifiers.org/clinvar/337316 ^@ NM_198843.2(SFTPB):c.-73C>G http://identifiers.org/clinvar/337366 ^@ NM_022912.2(REEP1):c.*2076delA http://identifiers.org/clinvar/334749 ^@ NM_000091.4(COL4A3):c.-134T>C http://identifiers.org/clinvar/342546 ^@ NM_198196.2(CD96):c.1504A>C (p.Thr502Pro) http://identifiers.org/clinvar/342696 ^@ NM_020754.3(ARHGAP31):c.*1238T>C http://identifiers.org/clinvar/343685 ^@ NM_031850.3(AGTR1):c.*463A>G http://identifiers.org/clinvar/343835 ^@ NM_005677.3(COLQ):c.*515C>T http://identifiers.org/clinvar/343935 ^@ NM_024996.5(GFM1):c.1406G>A (p.Gly469Asp) http://identifiers.org/clinvar/350525 ^@ NM_001182.4(ALDH7A1):c.*2781C>T http://identifiers.org/clinvar/354501 ^@ NM_002890.2(RASA1):c.-198G>T http://identifiers.org/clinvar/357391 ^@ NM_138694.3(PKHD1):c.*1083G>T http://identifiers.org/clinvar/350575 ^@ NM_001182.4(ALDH7A1):c.*641G>A http://identifiers.org/clinvar/357491 ^@ NM_018100.3(EFHC1):c.*226A>G http://identifiers.org/clinvar/350675 ^@ NM_032446.2(MEGF10):c.*164G>A http://identifiers.org/clinvar/357691 ^@ NM_001142800.1(EYS):c.7411+11C>T http://identifiers.org/clinvar/351464 ^@ NM_054027.4(ANKH):c.*1626G>A http://identifiers.org/clinvar/351664 ^@ NM_024577.3(SH3TC2):c.*14562G>A http://identifiers.org/clinvar/351714 ^@ NM_024577.3(SH3TC2):c.*10111_*10114delTCTA http://identifiers.org/clinvar/351864 ^@ NM_024577.3(SH3TC2):c.*1942delC http://identifiers.org/clinvar/352162 ^@ NM_005211.3(CSF1R):c.764A>T (p.Asn255Ile) http://identifiers.org/clinvar/352014 ^@ NM_000112.3(SLC26A2):c.-235T>C http://identifiers.org/clinvar/356391 ^@ NM_080680.2(COL11A2):c.3583-5T>C http://identifiers.org/clinvar/352112 ^@ NM_005211.3(CSF1R):c.*234delT http://identifiers.org/clinvar/352362 ^@ NM_000337.5(SGCD):c.*2604T>C http://identifiers.org/clinvar/356441 ^@ NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) http://identifiers.org/clinvar/356541 ^@ NM_182548.3(LHFPL5):c.*512A>T http://identifiers.org/clinvar/352512 ^@ NM_001099287.1(NIPAL4):c.497T>C (p.Met166Thr) http://identifiers.org/clinvar/356591 ^@ NM_005943.5(MOCS1):c.*2646G>A http://identifiers.org/clinvar/352262 ^@ NM_000405.4(GM2A):c.*255C>T http://identifiers.org/clinvar/356691 ^@ NM_000409.4(GUCA1A):c.-26A>G http://identifiers.org/clinvar/352712 ^@ NM_012188.4(FOXI1):c.1088G>T (p.Ser363Ile) http://identifiers.org/clinvar/356791 ^@ NM_000287.3(PEX6):c.*168C>T http://identifiers.org/clinvar/356891 ^@ NM_006502.2(POLH):c.-216C>T http://identifiers.org/clinvar/352662 ^@ NM_000816.3(GABRG2):c.*1468A>G http://identifiers.org/clinvar/357041 ^@ NM_020745.3(AARS2):c.*753C>G http://identifiers.org/clinvar/352862 ^@ NM_002449.4(MSX2):c.*1125A>G http://identifiers.org/clinvar/357241 ^@ NM_000255.3(MUT):c.*691T>C http://identifiers.org/clinvar/360690 ^@ NM_000941.2(POR):c.-5G>T http://identifiers.org/clinvar/360790 ^@ NM_000443.3(ABCB4):c.3372C>T (p.Cys1124=) http://identifiers.org/clinvar/357541 ^@ NM_001723.5(DST):c.*49G>A http://identifiers.org/clinvar/357641 ^@ NM_183227.2(RAB23):c.616T>A (p.Ser206Thr) http://identifiers.org/clinvar/353701 ^@ NM_000163.4(GHR):c.*836G>C http://identifiers.org/clinvar/306525 ^@ NM_016156.5(MTMR2):c.*679A>C http://identifiers.org/clinvar/306625 ^@ NM_139319.2(SLC17A8):c.354+7A>T http://identifiers.org/clinvar/306725 ^@ NM_002465.3(MYBPC1):c.608+14A>G http://identifiers.org/clinvar/364228 ^@ NM_014425.4(INVS):c.1916C>A (p.Ala639Asp) http://identifiers.org/clinvar/364378 ^@ NM_005502.3(ABCA1):c.6450G>A (p.Pro2150=) http://identifiers.org/clinvar/364328 ^@ NM_005502.3(ABCA1):c.*2746T>C http://identifiers.org/clinvar/306975 ^@ NM_080911.2(UNG):c.623-9T>A http://identifiers.org/clinvar/364528 ^@ NM_001079802.1(FKTN):c.*5303dupA http://identifiers.org/clinvar/307075 ^@ NM_052845.3(MMAB):c.732G>A (p.Ser244=) http://identifiers.org/clinvar/364428 ^@ NM_005502.3(ABCA1):c.2473G>A (p.Val825Ile) http://identifiers.org/clinvar/307275 ^@ NM_000192.3(TBX5):c.*1101A>G http://identifiers.org/clinvar/364678 ^@ NM_015404.3(WHRN):c.*37C>G http://identifiers.org/clinvar/364478 ^@ NM_005502.3(ABCA1):c.-223C>A http://identifiers.org/clinvar/307425 ^@ NM_014365.2(HSPB8):c.*616C>T http://identifiers.org/clinvar/307525 ^@ NM_001414.3(EIF2B1):c.*352C>G http://identifiers.org/clinvar/364778 ^@ NM_018249.5(CDK5RAP2):c.1072G>A (p.Ala358Thr) http://identifiers.org/clinvar/364828 ^@ NM_000177.4(GSN):c.2155G>A (p.Glu719Lys) http://identifiers.org/clinvar/300881 ^@ NM_012330.3(KAT6B):c.3685A>G (p.Ser1229Gly) http://identifiers.org/clinvar/300981 ^@ NM_007055.3(POLR3A):c.*2205T>G http://identifiers.org/clinvar/365028 ^@ NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) http://identifiers.org/clinvar/364928 ^@ NM_002316.3(LMX1B):c.*1393G>T http://identifiers.org/clinvar/365128 ^@ NM_001003722.1(GLE1):c.-81C>T http://identifiers.org/clinvar/365178 ^@ NM_001130438.2(SPTAN1):c.6738C>T (p.Leu2246=) http://identifiers.org/clinvar/365278 ^@ NM_007171.3(POMT1):c.1389A>C (p.Ser463=) http://identifiers.org/clinvar/365328 ^@ NM_015046.5(SETX):c.*626C>T http://identifiers.org/clinvar/365078 ^@ NM_000118.3(ENG):c.*700_*703delAACT http://identifiers.org/clinvar/301281 ^@ NM_033100.3(CDHR1):c.*907G>A http://identifiers.org/clinvar/365528 ^@ NM_003172.3(SURF1):c.366C>T (p.Val122=) http://identifiers.org/clinvar/301381 ^@ NM_005271.4(GLUD1):c.*970A>G http://identifiers.org/clinvar/301431 ^@ NM_000314.6(PTEN):c.*430A>G http://identifiers.org/clinvar/365628 ^@ NM_014694.3(ADAMTSL2):c.*622C>G http://identifiers.org/clinvar/365428 ^@ NM_000368.4(TSC1):c.*3063A>T http://identifiers.org/clinvar/365478 ^@ NM_000368.4(TSC1):c.*1372T>G http://identifiers.org/clinvar/365979 ^@ NM_016219.4(MAN1B1):c.2079G>A (p.Leu693=) http://identifiers.org/clinvar/301981 ^@ NM_002427.3(MMP13):c.968C>T (p.Thr323Met) http://identifiers.org/clinvar/309514 ^@ NM_002282.3(KRT83):c.891G>C (p.Glu297Asp) http://identifiers.org/clinvar/309764 ^@ NM_001173467.2(SP7):c.927G>A (p.Ser309=) http://identifiers.org/clinvar/365929 ^@ NM_006412.3(AGPAT2):c.316+15G>A http://identifiers.org/clinvar/302720 ^@ NM_001164277.1(SLC37A4):c.-670C>T http://identifiers.org/clinvar/302870 ^@ NM_005188.3(CBL):c.*5756G>A http://identifiers.org/clinvar/302970 ^@ NM_015645.4(C1QTNF5):c.-2141C>G http://identifiers.org/clinvar/367018 ^@ NM_001042413.1(GLIS3):c.-619C>G http://identifiers.org/clinvar/367068 ^@ NM_004170.5(SLC1A1):c.*425T>C http://identifiers.org/clinvar/303070 ^@ NM_006918.4(SC5D):c.*1626A>T http://identifiers.org/clinvar/312618 ^@ NM_001376.4(DYNC1H1):c.366T>C (p.Thr122=) http://identifiers.org/clinvar/312718 ^@ NM_022489.3(INF2):c.*288C>T http://identifiers.org/clinvar/312818 ^@ NM_001126106.2(SLC7A7):c.1064G>A (p.Arg355Gln) http://identifiers.org/clinvar/340746 ^@ NM_017929.5(PEX26):c.-133C>T http://identifiers.org/clinvar/312918 ^@ NM_000257.3(MYH7):c.449C>G (p.Ala150Gly) http://identifiers.org/clinvar/340846 ^@ NM_004782.3(SNAP29):c.*519_*520delAC http://identifiers.org/clinvar/314707 ^@ NM_000369.2(TSHR):c.*400T>C http://identifiers.org/clinvar/340896 ^@ NM_004782.3(SNAP29):c.*2944delA http://identifiers.org/clinvar/340996 ^@ NM_022081.5(HPS4):c.*515G>C http://identifiers.org/clinvar/314807 ^@ NM_198309.3(TTC8):c.*238G>A http://identifiers.org/clinvar/341096 ^@ NM_000268.3(NF2):c.*974C>T http://identifiers.org/clinvar/341146 ^@ NM_000268.3(NF2):c.*2396G>T http://identifiers.org/clinvar/314907 ^@ NM_004239.4(TRIP11):c.*628C>T http://identifiers.org/clinvar/314957 ^@ NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) http://identifiers.org/clinvar/341396 ^@ NM_000362.4(TIMP3):c.*2820G>A http://identifiers.org/clinvar/313318 ^@ NM_002863.4(PYGL):c.2481C>T (p.Asn827=) http://identifiers.org/clinvar/315107 ^@ NM_177438.2(DICER1):c.3269+14G>A http://identifiers.org/clinvar/341796 ^@ NM_001429.3(EP300):c.2580A>G (p.Pro860=) http://identifiers.org/clinvar/315607 ^@ NM_133647.1(SLC12A6):c.3228-15T>C http://identifiers.org/clinvar/342146 ^@ NM_001953.4(TYMP):c.766-10C>T http://identifiers.org/clinvar/367697 ^@ NM_000061.2(BTK):c.852A>G (p.Lys284=) http://identifiers.org/clinvar/367797 ^@ NM_001167.3(XIAP):c.*80G>C http://identifiers.org/clinvar/315857 ^@ NM_144508.4(KNL1):c.3573A>G (p.Ile1191Met) http://identifiers.org/clinvar/367897 ^@ NM_004208.3(AIFM1):c.-185G>A http://identifiers.org/clinvar/367947 ^@ NM_004840.2(ARHGEF6):c.166-11T>C http://identifiers.org/clinvar/314207 ^@ NM_182894.2(VSX2):c.*45T>C http://identifiers.org/clinvar/314357 ^@ NM_001040108.1(MLH3):c.*1701delA http://identifiers.org/clinvar/314757 ^@ NM_000153.3(GALC):c.328+6A>G http://identifiers.org/clinvar/317096 ^@ NM_022369.3(STRA6):c.1903G>A (p.Gly635Ser) http://identifiers.org/clinvar/317146 ^@ NM_002435.2(MPI):c.*58C>T http://identifiers.org/clinvar/315307 ^@ NM_139057.3(ADAMTS17):c.867A>G (p.Gln289=) http://identifiers.org/clinvar/317346 ^@ NM_198525.2(KIF7):c.*87C>A http://identifiers.org/clinvar/315357 ^@ NM_144599.4(NIPA1):c.*3590A>G http://identifiers.org/clinvar/315457 ^@ NM_000275.2(OCA2):c.*50A>G http://identifiers.org/clinvar/317447 ^@ NM_000875.4(IGF1R):c.1463-5C>A http://identifiers.org/clinvar/317497 ^@ NM_000875.4(IGF1R):c.*1155_*1156insGT http://identifiers.org/clinvar/315557 ^@ NM_133647.1(SLC12A6):c.*3039_*3040insCT http://identifiers.org/clinvar/317597 ^@ NM_000875.4(IGF1R):c.*4980G>A http://identifiers.org/clinvar/325240 ^@ NM_199242.2(UNC13D):c.*18G>A http://identifiers.org/clinvar/325390 ^@ NM_004035.6(ACOX1):c.510G>A (p.Val170=) http://identifiers.org/clinvar/325490 ^@ NM_001077620.2(PRCD):c.*933G>A http://identifiers.org/clinvar/317897 ^@ NM_032520.4(GNPTG):c.*68G>T http://identifiers.org/clinvar/317797 ^@ NM_005236.2(ERCC4):c.61C>G (p.Gln21Glu) http://identifiers.org/clinvar/315957 ^@ NM_138477.2(CDAN1):c.57G>C (p.Val19=) http://identifiers.org/clinvar/325590 ^@ NM_006640.4(SEPT9):c.*573C>G http://identifiers.org/clinvar/317847 ^@ NM_005236.2(ERCC4):c.*1796T>C http://identifiers.org/clinvar/316057 ^@ NM_201631.3(TGM5):c.768G>A (p.Thr256=) http://identifiers.org/clinvar/325690 ^@ NM_138793.3(CANT1):c.*445G>A http://identifiers.org/clinvar/317947 ^@ NM_001287.5(CLCN7):c.1617+13G>A http://identifiers.org/clinvar/373707 ^@ NM_001135659.2(NRXN1):c.150C>G (p.Cys50Trp) http://identifiers.org/clinvar/373507 ^@ NM_001034850.2(RETREG1):c.606T>A (p.Ser202Arg) http://identifiers.org/clinvar/373807 ^@ NM_000127.2(EXT1):c.1164+1delG http://identifiers.org/clinvar/373457 ^@ NM_001081.3(CUBN):c.4376C>G (p.Ser1459Cys) http://identifiers.org/clinvar/373607 ^@ NM_007078.2(LDB3):c.575C>T (p.Pro192Leu) http://identifiers.org/clinvar/373407 ^@ NM_001080510.4(METTL23):c.536_545dupAAATGCTGGT (p.Ile183Asnfs) http://identifiers.org/clinvar/373657 ^@ NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) http://identifiers.org/clinvar/373757 ^@ NM_002230.2(JUP):c.161C>T (p.Thr54Met) http://identifiers.org/clinvar/373557 ^@ NM_000496.2(CRYBB2):c.560T>G (p.Val187Gly) http://identifiers.org/clinvar/373357 ^@ NM_000052.6(ATP7A):c.3174A>G (p.Gln1058=) http://identifiers.org/clinvar/373857 ^@ NG_005905.2:g.61068_98138del http://identifiers.org/clinvar/373960 ^@ NM_006922.3(SCN3A):c.2624T>C (p.Ile875Thr) http://identifiers.org/clinvar/374110 ^@ NM_000297.3(PKD2):c.145C>T (p.Gln49Ter) http://identifiers.org/clinvar/374160 ^@ NM_031443.3(CCM2):c.354C>G (p.Tyr118Ter) http://identifiers.org/clinvar/374210 ^@ NM_025114.3(CEP290):c.3104-2A>G http://identifiers.org/clinvar/374060 ^@ NM_000053.3(ATP7B):c.2963G>A (p.Gly988Glu) http://identifiers.org/clinvar/373910 ^@ NM_000275.2(OCA2):c.1025A>G (p.Tyr342Cys) http://identifiers.org/clinvar/374010 ^@ NM_004006.2(DMD):c.177delG (p.Gln60Lysfs) http://identifiers.org/clinvar/374399 ^@ NM_001145853.1(WFS1):c.2191A>G (p.Met731Val) http://identifiers.org/clinvar/374264 ^@ NM_001005336.2(DNM1):c.465_467dupGAT (p.Gln155_Ile156insMet) http://identifiers.org/clinvar/374334 ^@ NM_015335.4(MED13L):c.4956-2A>C http://identifiers.org/clinvar/374452 ^@ NM_004960.3(FUS):c.667_675delGGCGGCGGC (p.Gly229_Gly231del) http://identifiers.org/clinvar/374502 ^@ NM_000144.4(FXN):c.123C>T (p.Gly41=) http://identifiers.org/clinvar/374552 ^@ NM_018249.5(CDK5RAP2):c.640C>G (p.Leu214Val) http://identifiers.org/clinvar/374602 ^@ NM_002047.3(GARS):c.90C>T (p.Leu30=) http://identifiers.org/clinvar/374652 ^@ NM_014874.3(MFN2):c.311+5G>C http://identifiers.org/clinvar/374702 ^@ NM_018896.4(CACNA1G):c.7066C>T (p.Pro2356Ser) http://identifiers.org/clinvar/383758 ^@ NM_015120.4(ALMS1):c.5629A>G (p.Ile1877Val) http://identifiers.org/clinvar/382556 ^@ NM_000179.2(MSH6):c.2322A>G (p.Leu774=) http://identifiers.org/clinvar/391336 ^@ NM_005911.5(MAT2A):c.318G>T (p.Val106=) http://identifiers.org/clinvar/390736 ^@ NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met) http://identifiers.org/clinvar/384998 ^@ NM_014049.4(ACAD9):c.808+18G>A http://identifiers.org/clinvar/385098 ^@ NM_198056.2(SCN5A):c.2788-15C>G http://identifiers.org/clinvar/385548 ^@ NM_024582.4(FAT4):c.3402A>T (p.Glu1134Asp) http://identifiers.org/clinvar/377461 ^@ NM_001182.4(ALDH7A1):c.393+15T>C http://identifiers.org/clinvar/378860 ^@ NM_006005.3(WFS1):c.1923G>A (p.Thr641=) http://identifiers.org/clinvar/384898 ^@ NM_014324.5(AMACR):c.-22C>G http://identifiers.org/clinvar/379760 ^@ NM_153240.4(NPHP3):c.520-10C>G http://identifiers.org/clinvar/382405 ^@ NM_002454.2(MTRR):c.288C>T (p.Leu96=) http://identifiers.org/clinvar/390886 ^@ NM_020117.10(LARS):c.1923G>A (p.Lys641=) http://identifiers.org/clinvar/379560 ^@ NM_006846.3(SPINK5):c.2622T>A (p.Tyr874Ter) http://identifiers.org/clinvar/391136 ^@ NM_001851.4(COL9A1):c.876+6T>C http://identifiers.org/clinvar/385748 ^@ NM_005654.5(NR2F1):c.365G>C (p.Cys122Ser) http://identifiers.org/clinvar/391086 ^@ NM_000925.3(PDHB):c.96+14G>C http://identifiers.org/clinvar/383507 ^@ NM_001148.4(ANK2):c.3379+17C>T http://identifiers.org/clinvar/381553 ^@ NM_005670.3(EPM2A):c.495G>A (p.Trp165Ter) http://identifiers.org/clinvar/383607 ^@ NM_024582.4(FAT4):c.8538C>T (p.Ser2846=) http://identifiers.org/clinvar/385898 ^@ NM_024582.4(FAT4):c.9822C>T (p.Pro3274=) http://identifiers.org/clinvar/379010 ^@ NM_004415.3(DSP):c.7077C>T (p.Ile2359=) http://identifiers.org/clinvar/391236 ^@ NM_000535.6(PMS2):c.803+11T>C http://identifiers.org/clinvar/385648 ^@ NM_004415.3(DSP):c.967G>C (p.Glu323Gln) http://identifiers.org/clinvar/382054 ^@ NM_004415.3(DSP):c.987G>A (p.Leu329=) http://identifiers.org/clinvar/379160 ^@ NM_000535.6(PMS2):c.-49C>T http://identifiers.org/clinvar/381954 ^@ NM_001080413.3(NOBOX):c.1774+18G>A http://identifiers.org/clinvar/379360 ^@ NM_016616.4(NME8):c.271-11T>A http://identifiers.org/clinvar/378658 ^@ NM_001130438.2(SPTAN1):c.3186A>T (p.Val1062=) http://identifiers.org/clinvar/385698 ^@ NM_024531.4(SLC52A2):c.1089G>A (p.Pro363=) http://identifiers.org/clinvar/385848 ^@ NM_000535.6(PMS2):c.705+13G>C http://identifiers.org/clinvar/381854 ^@ NM_015214.2(DDHD2):c.1009A>C (p.Arg337=) http://identifiers.org/clinvar/380361 ^@ NM_000501.3(ELN):c.164-2A>C http://identifiers.org/clinvar/381904 ^@ NM_000093.4(COL5A1):c.5136+17C>T http://identifiers.org/clinvar/390786 ^@ NM_000445.4(PLEC):c.6837C>T (p.Arg2279=) http://identifiers.org/clinvar/378760 ^@ NM_012210.3(TRIM32):c.811C>T (p.Arg271Trp) http://identifiers.org/clinvar/391486 ^@ NM_203447.3(DOCK8):c.4003G>T (p.Val1335Leu) http://identifiers.org/clinvar/377811 ^@ NM_004415.3(DSP):c.6240C>T (p.Phe2080=) http://identifiers.org/clinvar/391286 ^@ NM_020822.2(KCNT1):c.3681C>T (p.Pro1227=) http://identifiers.org/clinvar/133050 ^@ NM_000540.2(RYR1):c.13509A>G (p.Lys4503=) http://identifiers.org/clinvar/133100 ^@ NM_000540.2(RYR1):c.1565A>G (p.Tyr522Cys) http://identifiers.org/clinvar/133150 ^@ NM_000540.2(RYR1):c.5441T>A (p.Met1814Lys) http://identifiers.org/clinvar/133200 ^@ NM_000540.2(RYR1):c.7324-1G>T http://identifiers.org/clinvar/133255 ^@ NM_004996.3(ABCC1):c.1218+9C>T http://identifiers.org/clinvar/133342 ^@ NM_001110792.1(MECP2):c.1483G>T (p.Glu495Ter) http://identifiers.org/clinvar/133392 ^@ NM_003073.4(SMARCB1):c.500+234C>G http://identifiers.org/clinvar/133442 ^@ NM_007313.2(ABL1):c.2939C>T (p.Pro980Leu) http://identifiers.org/clinvar/133492 ^@ NM_152424.3(AMER1):c.2651C>T (p.Pro884Leu) http://identifiers.org/clinvar/133543 ^@ NM_015071.5(ARHGAP26):c.1829C>T (p.Thr610Ile) http://identifiers.org/clinvar/133593 ^@ NM_015338.5(ASXL1):c.2251G>A (p.Val751Ile) http://identifiers.org/clinvar/133643 ^@ NM_000051.3(ATM):c.1021G>A (p.Val341Ile) http://identifiers.org/clinvar/133693 ^@ NM_001123385.1(BCOR):c.3277G>A (p.Glu1093Lys) http://identifiers.org/clinvar/133746 ^@ NM_032043.2(BRIP1):c.1727dupA (p.Asn576Lysfs) http://identifiers.org/clinvar/133797 ^@ NM_032415.5(CARD11):c.2298G>T (p.Glu766Asp) http://identifiers.org/clinvar/133847 ^@ NM_004360.4(CDH1):c.2053G>A (p.Val685Met) http://identifiers.org/clinvar/133897 ^@ NM_015125.4(CIC):c.2146C>T (p.Arg716Trp) http://identifiers.org/clinvar/133947 ^@ NM_022148.3(CRLF2):c.190G>A (p.Gly64Ser) http://identifiers.org/clinvar/133997 ^@ NM_001077706.2(ECT2L):c.2027_2028+7delAGGTAAATG http://identifiers.org/clinvar/134049 ^@ NM_001429.3(EP300):c.6481A>G (p.Met2161Val) http://identifiers.org/clinvar/134099 ^@ NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) http://identifiers.org/clinvar/134149 ^@ NM_005236.2(ERCC4):c.1447A>G (p.Arg483Gly) http://identifiers.org/clinvar/134199 ^@ NM_000127.2(EXT1):c.1135G>A (p.Val379Ile) http://identifiers.org/clinvar/134249 ^@ NM_000135.2(FANCA):c.2008C>T (p.Arg670Cys) http://identifiers.org/clinvar/134300 ^@ NM_000136.2(FANCC):c.1585A>C (p.Thr529Pro) http://identifiers.org/clinvar/134997 ^@ NM_016734.2(PAX5):c.6T>A (p.Asp2Glu) http://identifiers.org/clinvar/135047 ^@ NM_000534.4(PMS1):c.2417C>G (p.Thr806Ser) http://identifiers.org/clinvar/135098 ^@ NM_000264.3(PTCH1):c.212C>T (p.Thr71Ile) http://identifiers.org/clinvar/135149 ^@ NM_004260.3(RECQL4):c.3256G>A (p.Gly1086Arg) http://identifiers.org/clinvar/136029 ^@ NM_002354.2(EPCAM):c.764A>C (p.Lys255Thr) http://identifiers.org/clinvar/136080 ^@ NM_007294.3(BRCA1):c.1830G>A (p.Arg610=) http://identifiers.org/clinvar/136130 ^@ NM_024675.3(PALB2):c.1863T>C (p.Pro621=) http://identifiers.org/clinvar/136190 ^@ NM_130838.1(UBE3A):c.275dupA (p.Lys93Glufs) http://identifiers.org/clinvar/136241 ^@ NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) http://identifiers.org/clinvar/136292 ^@ NM_000020.2(ACVRL1):c.-5-33C>T http://identifiers.org/clinvar/136343 ^@ NM_005751.4(AKAP9):c.9145C>T (p.Leu3049=) http://identifiers.org/clinvar/136394 ^@ NM_001148.4(ANK2):c.10888+20C>T http://identifiers.org/clinvar/186634 ^@ NM_007294.3(BRCA1):c.1256dupT (p.Asp420Argfs) http://identifiers.org/clinvar/186132 ^@ NM_000546.5(TP53):c.305C>T (p.Thr102Ile) http://identifiers.org/clinvar/187334 ^@ NM_007194.3(CHEK2):c.683+1G>T http://identifiers.org/clinvar/188158 ^@ NM_001128425.1(MUTYH):c.917G>A (p.Cys306Tyr) http://identifiers.org/clinvar/188263 ^@ NM_000551.3(VHL):c.167C>T (p.Ala56Val) http://identifiers.org/clinvar/188368 ^@ NM_138694.3(PKHD1):c.8303-1G>A http://identifiers.org/clinvar/188209 ^@ NM_000264.3(PTCH1):c.3992C>T (p.Ser1331Phe) http://identifiers.org/clinvar/188315 ^@ NM_000890.3(KCNJ5):c.121C>T (p.Arg41Cys) http://identifiers.org/clinvar/188576 ^@ NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) http://identifiers.org/clinvar/188526 ^@ NM_000256.3(MYBPC3):c.506-1G>C http://identifiers.org/clinvar/188426 ^@ NM_000059.3(BRCA2):c.811G>A (p.Gly271Arg) http://identifiers.org/clinvar/188626 ^@ NM_000257.3(MYH7):c.3726+17C>T http://identifiers.org/clinvar/188476 ^@ NM_000152.4(GAA):c.676C>G (p.Leu226Val) http://identifiers.org/clinvar/188676 ^@ NM_000363.4(TNNI3):c.549+16G>A http://identifiers.org/clinvar/188877 ^@ NM_000478.5(ALPL):c.400_401delACinsCA (p.Thr134His) http://identifiers.org/clinvar/188726 ^@ NM_174878.2(CLRN1):c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs) http://identifiers.org/clinvar/188977 ^@ NM_000441.1(SLC26A4):c.890delC (p.Pro297Glnfs) http://identifiers.org/clinvar/188776 ^@ NM_000050.4(ASS1):c.1138C>T (p.Gln380Ter) http://identifiers.org/clinvar/189028 ^@ NM_001164277.1(SLC37A4):c.381+1G>A http://identifiers.org/clinvar/189078 ^@ NM_000352.4(ABCC8):c.2116+2T>C http://identifiers.org/clinvar/189128 ^@ NM_000518.4(HBB):c.315+1G>C http://identifiers.org/clinvar/189178 ^@ NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs) http://identifiers.org/clinvar/188826 ^@ NM_000153.3(GALC):c.1472delA (p.Lys491Argfs) http://identifiers.org/clinvar/188927 ^@ NM_000071.2(CBS):c.770C>T (p.Thr257Met) http://identifiers.org/clinvar/189245 ^@ NM_018418.4(SPATA7):c.94+2T>C http://identifiers.org/clinvar/189297 ^@ NM_000527.4(LDLR):c.811G>A (p.Val271Ile) http://identifiers.org/clinvar/189363 ^@ NM_003156.3(STIM1):c.239A>C (p.Asn80Thr) http://identifiers.org/clinvar/189446 ^@ NM_000314.6(PTEN):c.219_222dupAAGA (p.His75Lysfs) http://identifiers.org/clinvar/189517 ^@ NM_001103.3(ACTN2):c.1883A>G (p.Glu628Gly) http://identifiers.org/clinvar/189618 ^@ NM_005249.4(FOXG1):c.689G>A (p.Arg230His) http://identifiers.org/clinvar/189668 ^@ NM_004992.3(MECP2):c.1180_1181insT (p.Glu394Valfs) http://identifiers.org/clinvar/189568 ^@ NM_003159.2(CDKL5):c.2046+1G>A http://identifiers.org/clinvar/189952 ^@ NM_001165963.1(SCN1A):c.4016C>T (p.Ala1339Val) http://identifiers.org/clinvar/190002 ^@ NM_001165963.1(SCN1A):c.380A>T (p.His127Leu) http://identifiers.org/clinvar/190123 ^@ NM_014444.4(TUBGCP4):c.1746G>T (p.Leu582=) http://identifiers.org/clinvar/190187 ^@ NM_001110556.1(FLNA):c.2565+1G>C http://identifiers.org/clinvar/190238 ^@ NM_001572.3(IRF7):c.1261C>T (p.Gln421Ter) http://identifiers.org/clinvar/228333 ^@ NM_001277115.1(DNAH11):c.6244C>T (p.Arg2082Ter) http://identifiers.org/clinvar/228733 ^@ NM_024915.3(GRHL2):c.641G>A (p.Ser214Asn) http://identifiers.org/clinvar/229183 ^@ NM_001134363.2(RBM20):c.1329C>G (p.Phe443Leu) http://identifiers.org/clinvar/228983 ^@ NM_017433.4(MYO3A):c.3037C>T (p.Arg1013Cys) http://identifiers.org/clinvar/227011 ^@ NM_033056.3(PCDH15):c.5435C>T (p.Pro1812Leu) http://identifiers.org/clinvar/229133 ^@ NM_033056.3(PCDH15):c.1537T>C (p.Ser513Pro) http://identifiers.org/clinvar/229033 ^@ NM_032578.3(MYPN):c.2134G>C (p.Ala712Pro) http://identifiers.org/clinvar/228483 ^@ NM_022124.5(CDH23):c.1514+6A>G http://identifiers.org/clinvar/227062 ^@ NM_005411.4(SFTPA1):c.148C>G (p.Leu50Val) http://identifiers.org/clinvar/228283 ^@ NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830_Leu1164delinsTer) http://identifiers.org/clinvar/227782 ^@ NM_001277269.1(OTOG):c.4663G>A (p.Ala1555Thr) http://identifiers.org/clinvar/226911 ^@ NM_001277269.1(OTOG):c.7681C>T (p.Leu2561=) http://identifiers.org/clinvar/228933 ^@ NM_000432.3(MYL2):c.275-14G>C http://identifiers.org/clinvar/227883 ^@ NM_002834.4(PTPN11):c.1224+15G>A http://identifiers.org/clinvar/226961 ^@ NM_173591.3(OTOGL):c.5896T>C (p.Leu1966=) http://identifiers.org/clinvar/228883 ^@ NM_002471.3(MYH6):c.1002T>A (p.Asp334Glu) http://identifiers.org/clinvar/228683 ^@ NM_000138.4(FBN1):c.1571C>T (p.Thr524Met) http://identifiers.org/clinvar/228383 ^@ NM_144672.3(OTOA):c.746_751delCTGCTTinsA (p.Ser249Tyrfs) http://identifiers.org/clinvar/227983 ^@ NM_001199107.1(TBC1D24):c.330C>T (p.Gly110=) http://identifiers.org/clinvar/226611 ^@ NM_023036.4(DNAI2):c.234G>A (p.Glu78=) http://identifiers.org/clinvar/228633 ^@ NM_001943.4(DSG2):c.2470C>T (p.Arg824Cys) http://identifiers.org/clinvar/228833 ^@ NM_144612.6(LOXHD1):c.91G>C (p.Asp31His) http://identifiers.org/clinvar/229283 ^@ NM_001039876.2(SYNE4):c.317A>C (p.Gln106Pro) http://identifiers.org/clinvar/226511 ^@ NM_001039213.3(CEACAM16):c.95G>T (p.Ser32Ile) http://identifiers.org/clinvar/228033 ^@ NM_001039141.2(TRIOBP):c.4773C>T (p.Ala1591=) http://identifiers.org/clinvar/228583 ^@ NM_004006.2(DMD):c.298G>A (p.Val100Ile) http://identifiers.org/clinvar/228433 ^@ NM_001614.3(ACTG1):c.409C>G (p.Gln137Glu) http://identifiers.org/clinvar/228783 ^@ NM_002290.4(LAMA4):c.4771G>T (p.Ala1591Ser) http://identifiers.org/clinvar/234287 ^@ NM_004895.4(NLRP3):c.392A>G (p.Lys131Arg) http://identifiers.org/clinvar/234761 ^@ NM_000179.2(MSH6):c.1969delC (p.Gln657Argfs) http://identifiers.org/clinvar/234661 ^@ NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) http://identifiers.org/clinvar/234561 ^@ NM_000535.6(PMS2):c.2011A>G (p.Thr671Ala) http://identifiers.org/clinvar/234862 ^@ NM_000314.6(PTEN):c.-997dupC http://identifiers.org/clinvar/234510 ^@ NM_000314.6(PTEN):c.-821G>T http://identifiers.org/clinvar/234403 ^@ NM_000314.6(PTEN):c.-797A>G http://identifiers.org/clinvar/234711 ^@ NM_021625.4(TRPV4):c.704A>G (p.Tyr235Cys) http://identifiers.org/clinvar/234912 ^@ NM_004360.4(CDH1):c.2590G>A (p.Glu864Lys) http://identifiers.org/clinvar/234459 ^@ NM_032043.2(BRIP1):c.1687_1689delGAT (p.Asp563del) http://identifiers.org/clinvar/234811 ^@ NM_032043.2(BRIP1):c.-47G>C http://identifiers.org/clinvar/234339 ^@ NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) http://identifiers.org/clinvar/234611 ^@ NM_000166.5(GJB1):c.372G>C (p.Lys124Asn) http://identifiers.org/clinvar/232935 ^@ NM_001128425.1(MUTYH):c.1421G>C (p.Arg474Pro) http://identifiers.org/clinvar/232985 ^@ NM_000251.2(MSH2):c.904T>C (p.Leu302=) http://identifiers.org/clinvar/233674 ^@ NM_000179.2(MSH6):c.3293G>A (p.Cys1098Tyr) http://identifiers.org/clinvar/234127 ^@ NM_000038.5(APC):c.4110A>T (p.Lys1370Asn) http://identifiers.org/clinvar/264946 ^@ NM_000059.3(BRCA2):c.8632+1910dup http://identifiers.org/clinvar/264896 ^@ NM_000059.3(BRCA2):c.8633-476T>A http://identifiers.org/clinvar/264796 ^@ NM_007294.3(BRCA1):c.442-696_442-695dup http://identifiers.org/clinvar/264846 ^@ NM_007294.3(BRCA1):c.134+2983_134+2987del http://identifiers.org/clinvar/265151 ^@ NM_000143.3(FH):c.1500G>A (p.Trp500Ter) http://identifiers.org/clinvar/265406 ^@ NM_001165963.1(SCN1A):c.3425_3426delAA (p.Lys1142Argfs) http://identifiers.org/clinvar/264998 ^@ NM_173076.2(ABCA12):c.179G>C (p.Arg60Pro) http://identifiers.org/clinvar/265306 ^@ NM_000314.6(PTEN):c.-730C>T http://identifiers.org/clinvar/265101 ^@ NM_000797.3(DRD4):c.1074_1075delCTinsGG (p.Cys358_Trp359delinsTrpGly) http://identifiers.org/clinvar/265202 ^@ NM_002225.3(IVD):c.1183C>T (p.Arg395Cys) http://identifiers.org/clinvar/265255 ^@ NM_000303.2(PMM2):c.368G>A (p.Arg123Gln) http://identifiers.org/clinvar/265051 ^@ NM_007294.3(BRCA1):c.5153-6C>T http://identifiers.org/clinvar/265356 ^@ NM_000214.2(JAG1):c.695-12T>A http://identifiers.org/clinvar/265456 ^@ NM_000383.3(AIRE):c.1265delC (p.Pro422Leufs) http://identifiers.org/clinvar/265506 ^@ NM_001849.3(COL6A2):c.1970-9G>A http://identifiers.org/clinvar/267167 ^@ NM_000059.3(BRCA2):c.956delA (p.Asn319Ilefs) http://identifiers.org/clinvar/266617 ^@ NM_000059.3(BRCA2):c.1232_1242delTACCCCTATTGinsACAT (p.Ile411Asnfs) http://identifiers.org/clinvar/266667 ^@ NM_000059.3(BRCA2):c.1900_1901insTT (p.Ala634Valfs) http://identifiers.org/clinvar/266867 ^@ NM_000059.3(BRCA2):c.5263G>T (p.Glu1755Ter) http://identifiers.org/clinvar/266917 ^@ NM_000059.3(BRCA2):c.6049A>T (p.Lys2017Ter) http://identifiers.org/clinvar/266967 ^@ NM_000059.3(BRCA2):c.6625dupA (p.Ile2209Asnfs) http://identifiers.org/clinvar/267017 ^@ NM_000059.3(BRCA2):c.7517dupA (p.Pro2507Alafs) http://identifiers.org/clinvar/267067 ^@ NM_000059.3(BRCA2):c.8301delT (p.Glu2769Lysfs) http://identifiers.org/clinvar/267117 ^@ NM_000059.3(BRCA2):c.8931T>A (p.Tyr2977Ter) http://identifiers.org/clinvar/266517 ^@ NM_007294.3(BRCA1):c.5041_5042insTTAA (p.Thr1681Ilefs) http://identifiers.org/clinvar/266467 ^@ NM_007294.3(BRCA1):c.4290_4296delTTCCATC (p.Ser1431Terfs) http://identifiers.org/clinvar/266567 ^@ NM_007294.3(BRCA1):c.689_692delAGAC (p.Glu230Glyfs) http://identifiers.org/clinvar/267237 ^@ NM_015247.2(CYLD):c.1658_1661delATCA (p.Asn553Argfs) http://identifiers.org/clinvar/267306 ^@ NM_004937.2(CTNS):c.382C>T (p.Gln128Ter) http://identifiers.org/clinvar/267384 ^@ c.4852C>T http://identifiers.org/clinvar/267438 ^@ NM_017780.3(CHD7):c.7802dupA (p.Tyr2601Terfs) http://identifiers.org/clinvar/267674 ^@ NM_000059.3(BRCA2):c.7008-?_9117+?dup http://identifiers.org/clinvar/267724 ^@ NM_000059.3(BRCA2):c.9499_9501+2del http://identifiers.org/clinvar/267574 ^@ NM_007294.3(BRCA1):c.5075-?_5277+?del http://identifiers.org/clinvar/267624 ^@ NM_007294.3(BRCA1):c.81-?_5152+?dup http://identifiers.org/clinvar/267524 ^@ NM_007294.3(BRCA1):c.4097-78_4185+69del http://identifiers.org/clinvar/267803 ^@ 46;X;t(X;10)(p11.2;q24.3) http://identifiers.org/clinvar/267854 ^@ 46;XX;inv(2)(p23q31)dn http://identifiers.org/clinvar/267904 ^@ 46;XX;t(2;11)(q33;q23)dn http://identifiers.org/clinvar/267954 ^@ 46;XY;inv(12)(p12.1q21.2)dn http://identifiers.org/clinvar/268004 ^@ 46;XX;t(16;22)(q23.2;q13.3) http://identifiers.org/clinvar/268120 ^@ NM_144772.2(NAXE):c.743delC (p.Ala248Glufs) http://identifiers.org/clinvar/268188 ^@ NC_000005.9:g.(?_16875518)_(17014287_?)dup http://identifiers.org/clinvar/279600 ^@ NM_000059.3(BRCA2):c.474A>G (p.Ser158=) http://identifiers.org/clinvar/291310 ^@ NM_001130987.1(DYSF):c.3792A>G (p.Gln1264=) http://identifiers.org/clinvar/291412 ^@ NM_001918.3(DBT):c.*4395G>A http://identifiers.org/clinvar/291462 ^@ NM_015074.3(KIF1B):c.-79-4A>G http://identifiers.org/clinvar/291512 ^@ NM_001854.3(COL11A1):c.3788C>T (p.Pro1263Leu) http://identifiers.org/clinvar/291562 ^@ NM_015074.3(KIF1B):c.2692G>A (p.Gly898Ser) http://identifiers.org/clinvar/292304 ^@ NM_000302.3(PLOD1):c.1495C>T (p.Arg499Trp) http://identifiers.org/clinvar/292754 ^@ NM_001111.4(ADAR):c.*206T>G http://identifiers.org/clinvar/292454 ^@ NM_005266.6(GJA5):c.-27T>C http://identifiers.org/clinvar/292154 ^@ NM_005957.4(MTHFR):c.*4549G>C http://identifiers.org/clinvar/292804 ^@ NM_000298.5(PKLR):c.*13T>G http://identifiers.org/clinvar/292854 ^@ NM_022367.3(SEMA4A):c.2106C>T (p.Leu702=) http://identifiers.org/clinvar/292204 ^@ NM_005957.4(MTHFR):c.*1765C>T http://identifiers.org/clinvar/292704 ^@ NM_006118.3(HAX1):c.207A>T (p.Pro69=) http://identifiers.org/clinvar/292254 ^@ NM_000198.3(HSD3B2):c.-145G>A http://identifiers.org/clinvar/293154 ^@ NM_000702.3(ATP1A2):c.*748C>T http://identifiers.org/clinvar/292354 ^@ NM_000302.3(PLOD1):c.*117A>G http://identifiers.org/clinvar/293004 ^@ NM_003126.2(SPTA1):c.3072C>T (p.Gly1024=) http://identifiers.org/clinvar/293354 ^@ NM_003001.3(SDHC):c.*1695G>T http://identifiers.org/clinvar/292404 ^@ NM_014874.3(MFN2):c.*1392A>G http://identifiers.org/clinvar/293054 ^@ NM_003126.2(SPTA1):c.441C>T (p.Thr147=) http://identifiers.org/clinvar/292504 ^@ NM_004698.2(PRPF3):c.1851G>A (p.Glu617=) http://identifiers.org/clinvar/293454 ^@ NM_005149.2(TBX19):c.105C>T (p.Asp35=) http://identifiers.org/clinvar/292554 ^@ NM_019032.5(ADAMTSL4):c.2512A>G (p.Met838Val) http://identifiers.org/clinvar/292654 ^@ NM_152263.3(TPM3):c.*3248G>A http://identifiers.org/clinvar/292604 ^@ NM_000449.3(RFX5):c.*364A>C http://identifiers.org/clinvar/292904 ^@ NM_007272.2(CTRC):c.26C>T (p.Ala9Val) http://identifiers.org/clinvar/292954 ^@ NM_003126.2(SPTA1):c.6359C>G (p.Thr2120Ser) http://identifiers.org/clinvar/293104 ^@ NM_002241.4(KCNJ10):c.*1435C>T http://identifiers.org/clinvar/293204 ^@ NM_002857.3(PEX19):c.*1745T>C http://identifiers.org/clinvar/293254 ^@ NM_000309.3(PPOX):c.646A>G (p.Ile216Val) http://identifiers.org/clinvar/293304 ^@ NM_000530.7(MPZ):c.*761A>G http://identifiers.org/clinvar/293404 ^@ NM_004431.4(EPHA2):c.*166G>A http://identifiers.org/clinvar/293504 ^@ NM_005149.2(TBX19):c.*1266C>T http://identifiers.org/clinvar/294893 ^@ NM_001001430.2(TNNT2):c.*66G>A http://identifiers.org/clinvar/294943 ^@ NM_003465.2(CHIT1):c.26-4C>A http://identifiers.org/clinvar/344335 ^@ NM_003907.2(EIF2B5):c.1341G>A (p.Ser447=) http://identifiers.org/clinvar/343585 ^@ NM_001184.3(ATR):c.6896T>C (p.Met2299Thr) http://identifiers.org/clinvar/336416 ^@ NM_002354.2(EPCAM):c.*147dupA http://identifiers.org/clinvar/343635 ^@ NM_000935.2(PLOD2):c.*847C>T http://identifiers.org/clinvar/344535 ^@ NM_000461.4(THRB):c.*5431T>A http://identifiers.org/clinvar/344635 ^@ NM_000461.4(THRB):c.*107G>C http://identifiers.org/clinvar/336616 ^@ NM_001039348.2(EFEMP1):c.*248A>C http://identifiers.org/clinvar/336666 ^@ NM_002618.3(PEX13):c.338T>C (p.Leu113Pro) http://identifiers.org/clinvar/343985 ^@ NM_020800.2(IFT80):c.-40C>T http://identifiers.org/clinvar/344185 ^@ NM_198407.2(GHSR):c.*842T>A http://identifiers.org/clinvar/344435 ^@ NM_003722.4(TP63):c.*2555dupT http://identifiers.org/clinvar/344485 ^@ NM_015560.2(OPA1):c.871-9T>C http://identifiers.org/clinvar/336866 ^@ NM_002056.3(GFPT1):c.*196G>A http://identifiers.org/clinvar/345724 ^@ NM_002222.5(ITPR1):c.3255+4G>A http://identifiers.org/clinvar/336966 ^@ NM_003494.3(DYSF):c.3724C>T (p.Arg1242Cys) http://identifiers.org/clinvar/337166 ^@ NM_003849.3(SUCLG1):c.-71G>T http://identifiers.org/clinvar/344785 ^@ NM_000404.3(GLB1):c.1603C>G (p.His535Asp) http://identifiers.org/clinvar/337016 ^@ NM_015120.4(ALMS1):c.5783G>A (p.Gly1928Asp) http://identifiers.org/clinvar/345674 ^@ NM_015175.2(NBEAL2):c.5381C>T (p.Thr1794Met) http://identifiers.org/clinvar/345774 ^@ NM_033629.4(TREX1):c.198G>A (p.Lys66=) http://identifiers.org/clinvar/337116 ^@ NM_013247.4(HTRA2):c.-586G>C http://identifiers.org/clinvar/337266 ^@ NM_000821.6(GGCX):c.1218C>T (p.Arg406=) http://identifiers.org/clinvar/346224 ^@ NM_003392.4(WNT5A):c.*2945A>G http://identifiers.org/clinvar/337466 ^@ NM_017849.3(TMEM127):c.*2245A>G http://identifiers.org/clinvar/346324 ^@ NM_001457.3(FLNB):c.2529C>T (p.His843=) http://identifiers.org/clinvar/346374 ^@ NM_001457.3(FLNB):c.*507C>T http://identifiers.org/clinvar/346724 ^@ NM_002942.4(ROBO2):c.*985C>A http://identifiers.org/clinvar/350225 ^@ NM_000203.4(IDUA):c.793-9C>T http://identifiers.org/clinvar/342646 ^@ NM_020754.3(ARHGAP31):c.1538C>T (p.Pro513Leu) http://identifiers.org/clinvar/342596 ^@ NM_000796.5(DRD3):c.987A>G (p.Gln329=) http://identifiers.org/clinvar/346074 ^@ NM_144499.2(GNAT1):c.*2074T>C http://identifiers.org/clinvar/346124 ^@ NM_004656.3(BAP1):c.581-6C>T http://identifiers.org/clinvar/343535 ^@ NM_024334.2(TMEM43):c.*1374T>C http://identifiers.org/clinvar/346474 ^@ NM_198859.3(PRICKLE2):c.1317C>T (p.Pro439=) http://identifiers.org/clinvar/346524 ^@ NM_000248.3(MITF):c.*1502A>T http://identifiers.org/clinvar/346624 ^@ NM_032682.5(FOXP1):c.*665G>A http://identifiers.org/clinvar/343735 ^@ NM_032383.4(HPS3):c.*239G>A http://identifiers.org/clinvar/346874 ^@ NM_000313.3(PROS1):c.*301A>G http://identifiers.org/clinvar/353601 ^@ NM_002310.5(LIFR):c.*368A>C http://identifiers.org/clinvar/353651 ^@ NM_000436.3(OXCT1):c.*567C>T http://identifiers.org/clinvar/353951 ^@ NM_001104631.1(PDE4D):c.*2032_*2035dupTAGA http://identifiers.org/clinvar/354051 ^@ NM_017755.5(NSUN2):c.2043G>A (p.Arg681=) http://identifiers.org/clinvar/354301 ^@ NM_000046.3(ARSB):c.*202A>G http://identifiers.org/clinvar/354101 ^@ NM_022132.4(MCCC2):c.615T>G (p.Asn205Lys) http://identifiers.org/clinvar/362389 ^@ NM_177924.4(ASAH1):c.-38C>T http://identifiers.org/clinvar/354451 ^@ NM_004385.4(VCAN):c.7966A>G (p.Thr2656Ala) http://identifiers.org/clinvar/354201 ^@ NM_003719.3(PDE8B):c.*864_*865delAG http://identifiers.org/clinvar/354251 ^@ NM_003664.4(AP3B1):c.388C>T (p.Leu130=) http://identifiers.org/clinvar/354551 ^@ NM_002397.4(MEF2C):c.*3583A>C http://identifiers.org/clinvar/362639 ^@ NM_006158.4(NEFL):c.*378A>G http://identifiers.org/clinvar/362689 ^@ NM_000742.3(CHRNA2):c.*384G>A http://identifiers.org/clinvar/354651 ^@ NM_000439.4(PCSK1):c.612C>T (p.Asn204=) http://identifiers.org/clinvar/354701 ^@ NM_001491.2(GCNT2):c.254C>G (p.Pro85Arg) http://identifiers.org/clinvar/362839 ^@ NM_000349.2(STAR):c.*348C>T http://identifiers.org/clinvar/362889 ^@ NM_023110.2(FGFR1):c.*70C>T http://identifiers.org/clinvar/362939 ^@ NM_003816.2(ADAM9):c.2210+14T>C http://identifiers.org/clinvar/354801 ^@ NM_001242957.2(MAK):c.843C>T (p.His281=) http://identifiers.org/clinvar/354851 ^@ NM_007214.4(SEC63):c.*2086G>C http://identifiers.org/clinvar/363339 ^@ NM_017813.4(IMPAD1):c.*4890C>T http://identifiers.org/clinvar/354901 ^@ NM_007214.4(SEC63):c.1674T>C (p.Asn558=) http://identifiers.org/clinvar/354951 ^@ NM_014028.3(OSTM1):c.*2053C>T http://identifiers.org/clinvar/363439 ^@ NM_017780.3(CHD7):c.13G>C (p.Gly5Arg) http://identifiers.org/clinvar/355452 ^@ NM_172105.3(EYA4):c.*1142delT http://identifiers.org/clinvar/364628 ^@ NM_000031.5(ALAD):c.*871C>A http://identifiers.org/clinvar/360490 ^@ NM_005228.4(EGFR):c.*1680T>G http://identifiers.org/clinvar/360540 ^@ NM_000535.6(PMS2):c.*107A>G http://identifiers.org/clinvar/364728 ^@ NM_012210.3(TRIM32):c.*512A>T http://identifiers.org/clinvar/364878 ^@ NM_002316.3(LMX1B):c.459C>T (p.Gly153=) http://identifiers.org/clinvar/364978 ^@ NM_002316.3(LMX1B):c.*3765A>C http://identifiers.org/clinvar/360740 ^@ NM_001001547.2(CD36):c.-375G>C http://identifiers.org/clinvar/360840 ^@ NM_005751.4(AKAP9):c.8524A>G (p.Met2842Val) http://identifiers.org/clinvar/356491 ^@ NM_182548.3(LHFPL5):c.372C>T (p.Ala124=) http://identifiers.org/clinvar/365578 ^@ NM_014694.3(ADAMTSL2):c.683-12T>G http://identifiers.org/clinvar/356741 ^@ NM_002098.5(GUCA1B):c.-73G>A http://identifiers.org/clinvar/356941 ^@ NM_006502.2(POLH):c.*1364T>A http://identifiers.org/clinvar/356991 ^@ NM_006502.2(POLH):c.*4310G>A http://identifiers.org/clinvar/357141 ^@ NM_001024630.3(RUNX2):c.*3160G>T http://identifiers.org/clinvar/366079 ^@ NM_144966.5(FREM1):c.*1256T>A http://identifiers.org/clinvar/357191 ^@ NM_012120.2(CD2AP):c.*492_*495delGTGT http://identifiers.org/clinvar/303120 ^@ NM_006918.4(SC5D):c.*5534C>G http://identifiers.org/clinvar/303320 ^@ NM_152722.4(HEPACAM):c.*112G>C http://identifiers.org/clinvar/303420 ^@ NM_016952.4(CDON):c.*2379T>C http://identifiers.org/clinvar/367447 ^@ NM_033305.2(VPS13A):c.*1186A>G http://identifiers.org/clinvar/366968 ^@ NM_203447.3(DOCK8):c.3195G>A (p.Arg1065=) http://identifiers.org/clinvar/303570 ^@ NM_000220.4(KCNJ1):c.894T>C (p.Asp298=) http://identifiers.org/clinvar/303820 ^@ NM_001909.4(CTSD):c.*694G>A http://identifiers.org/clinvar/367118 ^@ NM_004972.3(JAK2):c.-109+10A>C http://identifiers.org/clinvar/367168 ^@ NM_000170.2(GLDC):c.*188C>T http://identifiers.org/clinvar/303870 ^@ NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) http://identifiers.org/clinvar/367497 ^@ NM_004560.3(ROR2):c.2277G>A (p.Ala759=) http://identifiers.org/clinvar/312568 ^@ NM_005708.4(GPC6):c.*696_*697delCT http://identifiers.org/clinvar/367647 ^@ NM_000264.3(PTCH1):c.*1358G>A http://identifiers.org/clinvar/312668 ^@ NM_001376.4(DYNC1H1):c.13719C>T (p.Asn4573=) http://identifiers.org/clinvar/312768 ^@ NM_001145.4(ANG):c.-332C>A http://identifiers.org/clinvar/312868 ^@ NM_002471.3(MYH6):c.2685+14A>T http://identifiers.org/clinvar/313068 ^@ NM_025152.2(NUBPL):c.*1694G>A http://identifiers.org/clinvar/304570 ^@ NM_207122.1(EXT2):c.-26G>T http://identifiers.org/clinvar/313168 ^@ NM_006194.3(PAX9):c.516G>A (p.Lys172=) http://identifiers.org/clinvar/313218 ^@ NM_020937.3(FANCM):c.4366C>T (p.Arg1456Cys) http://identifiers.org/clinvar/314307 ^@ NM_000428.2(LTBP2):c.1745C>T (p.Ala582Val) http://identifiers.org/clinvar/305611 ^@ NM_000920.3(PC):c.*164dupT http://identifiers.org/clinvar/314657 ^@ NM_004863.3(SPTLC2):c.*397G>T http://identifiers.org/clinvar/314857 ^@ NM_018319.3(TDP1):c.*1452C>T http://identifiers.org/clinvar/306224 ^@ NM_024079.4(ALG8):c.441A>T (p.Val147=) http://identifiers.org/clinvar/306274 ^@ NM_024698.5(SLC25A22):c.-138_-137insC http://identifiers.org/clinvar/306325 ^@ NM_012193.3(FZD4):c.*5451G>A http://identifiers.org/clinvar/315757 ^@ NM_152594.2(SPRED1):c.*1897C>T http://identifiers.org/clinvar/306475 ^@ NM_005591.3(MRE11):c.*656_*659dupTCTC http://identifiers.org/clinvar/315807 ^@ NM_002225.3(IVD):c.*261G>A http://identifiers.org/clinvar/309614 ^@ NM_000423.2(KRT2):c.768C>T (p.Asn256=) http://identifiers.org/clinvar/309664 ^@ NM_002272.3(KRT4):c.*68C>T http://identifiers.org/clinvar/309714 ^@ NM_002272.3(KRT4):c.25C>G (p.Arg9Gly) http://identifiers.org/clinvar/309914 ^@ NM_005379.3(MYO1A):c.1367A>G (p.Glu456Gly) http://identifiers.org/clinvar/317997 ^@ NM_014714.3(IFT140):c.3779G>A (p.Arg1260Gln) http://identifiers.org/clinvar/330269 ^@ NM_000064.3(C3):c.4941G>A (p.Gln1647=) http://identifiers.org/clinvar/330519 ^@ NM_006702.4(PNPLA6):c.1095T>C (p.Pro365=) http://identifiers.org/clinvar/318988 ^@ NM_004960.3(FUS):c.937-10C>T http://identifiers.org/clinvar/306675 ^@ NM_018979.3(WNK1):c.*628dupA http://identifiers.org/clinvar/312368 ^@ NM_000053.3(ATP7B):c.*786T>C http://identifiers.org/clinvar/312468 ^@ NM_000115.4(EDNRB):c.*179G>A http://identifiers.org/clinvar/319539 ^@ NM_015247.2(CYLD):c.*2438G>A http://identifiers.org/clinvar/319639 ^@ NM_015272.4(RPGRIP1L):c.*418G>A http://identifiers.org/clinvar/319689 ^@ NM_001080432.2(FTO):c.1240-4G>A http://identifiers.org/clinvar/319839 ^@ NM_001043.3(SLC6A2):c.*1023C>A http://identifiers.org/clinvar/313018 ^@ NM_025152.2(NUBPL):c.-7C>T http://identifiers.org/clinvar/313118 ^@ NM_020529.2(NFKBIA):c.78G>A (p.Leu26=) http://identifiers.org/clinvar/338906 ^@ NM_002591.3(PCK1):c.*388_*393dupTGTGTG http://identifiers.org/clinvar/320389 ^@ NM_000353.2(TAT):c.*1055A>G http://identifiers.org/clinvar/313268 ^@ NM_002408.3(MGAT2):c.*791G>A http://identifiers.org/clinvar/320589 ^@ NM_021615.4(CHST6):c.*687C>A http://identifiers.org/clinvar/339206 ^@ NM_017671.4(FERMT1):c.1884C>T (p.Asn628=) http://identifiers.org/clinvar/313368 ^@ NM_000161.2(GCH1):c.*1183C>T http://identifiers.org/clinvar/320689 ^@ NM_022041.3(GAN):c.*1273G>C http://identifiers.org/clinvar/320789 ^@ NM_001451.2(FOXF1):c.204C>G (p.Arg68=) http://identifiers.org/clinvar/339406 ^@ NM_025219.2(DNAJC5):c.*2545C>G http://identifiers.org/clinvar/320889 ^@ NM_001127464.2(ZNF469):c.2666C>T (p.Ala889Val) http://identifiers.org/clinvar/339606 ^@ NM_000933.3(PLCB4):c.*869G>T http://identifiers.org/clinvar/312218 ^@ NM_014252.3(SLC25A15):c.*2373T>C http://identifiers.org/clinvar/339756 ^@ NM_000219.5(KCNE1):c.*946delG http://identifiers.org/clinvar/339856 ^@ NM_001754.4(RUNX1):c.*700dupT http://identifiers.org/clinvar/312268 ^@ NM_003850.2(SUCLA2):c.802+4A>G http://identifiers.org/clinvar/312318 ^@ NM_000321.2(RB1):c.*1544T>C http://identifiers.org/clinvar/340156 ^@ NM_000211.4(ITGB2):c.1230C>G (p.Thr410=) http://identifiers.org/clinvar/312418 ^@ NM_001004127.2(ALG11):c.*193A>C http://identifiers.org/clinvar/312518 ^@ NM_052910.2(SLITRK1):c.-536A>T http://identifiers.org/clinvar/367747 ^@ NM_002294.2(LAMP2):c.*3677C>A http://identifiers.org/clinvar/367997 ^@ NM_000133.3(F9):c.19A>T (p.Ile7Phe) http://identifiers.org/clinvar/368047 ^@ NM_000033.3(ABCD1):c.1215G>A (p.Ser405=) http://identifiers.org/clinvar/327230 ^@ NM_001083962.1(TCF4):c.*5189_*5192delTGAC http://identifiers.org/clinvar/329130 ^@ NM_000540.2(RYR1):c.13551C>T (p.Pro4517=) http://identifiers.org/clinvar/327430 ^@ NM_000140.3(FECH):c.598+12T>A http://identifiers.org/clinvar/327480 ^@ NM_005603.4(ATP8B1):c.2098-20_2098-15dupTTTTTT http://identifiers.org/clinvar/327730 ^@ NM_003839.3(TNFRSF11A):c.497C>T (p.Thr166Met) http://identifiers.org/clinvar/330419 ^@ NM_000208.3(INSR):c.*613C>T http://identifiers.org/clinvar/330569 ^@ NM_030957.3(ADAMTS10):c.*428A>G http://identifiers.org/clinvar/328680 ^@ NM_001031726.3(C19orf12):c.*2662C>T http://identifiers.org/clinvar/337916 ^@ NM_198994.2(TGM6):c.940G>A (p.Val314Met) http://identifiers.org/clinvar/338956 ^@ NM_004738.4(VAPB):c.*1800A>G http://identifiers.org/clinvar/339006 ^@ NM_004738.4(VAPB):c.*5298C>T http://identifiers.org/clinvar/329969 ^@ NM_024729.3(MYH14):c.*667G>A http://identifiers.org/clinvar/330119 ^@ NM_024075.4(TSEN34):c.-175C>A http://identifiers.org/clinvar/339356 ^@ NM_025219.2(DNAJC5):c.122A>G (p.Lys41Arg) http://identifiers.org/clinvar/330169 ^@ NM_206828.3(NLRP7):c.1464_1466dupGGA (p.Glu488_Asp489insGlu) http://identifiers.org/clinvar/330219 ^@ NM_001256714.1(DNAAF3):c.321T>C (p.Asp107=) http://identifiers.org/clinvar/339506 ^@ NM_015192.3(PLCB1):c.1764-6G>C http://identifiers.org/clinvar/330319 ^@ NM_000064.3(C3):c.1767C>T (p.His589=) http://identifiers.org/clinvar/330369 ^@ NM_000208.3(INSR):c.*3359G>A http://identifiers.org/clinvar/339656 ^@ NM_000484.3(APP):c.-170C>A http://identifiers.org/clinvar/330469 ^@ NM_000208.3(INSR):c.1862-4A>G http://identifiers.org/clinvar/339806 ^@ NM_001754.4(RUNX1):c.*3527T>G http://identifiers.org/clinvar/339906 ^@ NM_144492.2(CLDN14):c.-682C>T http://identifiers.org/clinvar/340106 ^@ NM_000394.3(CRYAA):c.*103C>T http://identifiers.org/clinvar/338856 ^@ NM_144773.3(PROKR2):c.930C>G (p.His310Gln) http://identifiers.org/clinvar/339056 ^@ NM_001001433.2(STX16):c.904A>G (p.Met302Val) http://identifiers.org/clinvar/341296 ^@ NM_000343.3(SLC5A1):c.*2257A>G http://identifiers.org/clinvar/341346 ^@ NM_000362.4(TIMP3):c.439-12A>T http://identifiers.org/clinvar/339456 ^@ NM_012469.3(PRPF6):c.-79C>T http://identifiers.org/clinvar/339556 ^@ NM_000933.3(PLCB4):c.535G>A (p.Glu179Lys) http://identifiers.org/clinvar/339706 ^@ NM_000628.4(IL10RB):c.*616delA http://identifiers.org/clinvar/341946 ^@ NM_025225.2(PNPLA3):c.1359C>G (p.Ser453Arg) http://identifiers.org/clinvar/340006 ^@ NM_020639.2(RIPK4):c.*90T>C http://identifiers.org/clinvar/382305 ^@ NM_001080512.2(BICC1):c.2411G>A (p.Arg804His) http://identifiers.org/clinvar/384548 ^@ NM_007327.3(GRIN1):c.-29G>A http://identifiers.org/clinvar/391636 ^@ NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=) http://identifiers.org/clinvar/384748 ^@ NM_032634.3(PIGO):c.2022G>T (p.Val674=) http://identifiers.org/clinvar/377711 ^@ NM_014141.5(CNTNAP2):c.3132G>A (p.Pro1044=) http://identifiers.org/clinvar/381303 ^@ NM_003476.4(CSRP3):c.-3A>C http://identifiers.org/clinvar/379260 ^@ NM_032578.3(MYPN):c.890C>T (p.Pro297Leu) http://identifiers.org/clinvar/381703 ^@ NM_005055.4(RAPSN):c.271C>T (p.Arg91Cys) http://identifiers.org/clinvar/384698 ^@ NM_000445.4(PLEC):c.879G>A (p.Pro293=) http://identifiers.org/clinvar/381403 ^@ NM_001916.4(CYC1):c.960A>C (p.Ala320=) http://identifiers.org/clinvar/377511 ^@ NM_000051.3(ATM):c.3303G>A (p.Lys1101=) http://identifiers.org/clinvar/377561 ^@ NM_004329.2(BMPR1A):c.-267-9T>C http://identifiers.org/clinvar/379710 ^@ NM_000051.3(ATM):c.6096-2A>G http://identifiers.org/clinvar/377761 ^@ NM_001909.4(CTSD):c.972+7G>A http://identifiers.org/clinvar/383657 ^@ NM_000256.3(MYBPC3):c.2838A>G (p.Ala946=) http://identifiers.org/clinvar/377611 ^@ NM_000719.6(CACNA1C):c.4829-8C>T http://identifiers.org/clinvar/385448 ^@ NM_014908.3(DOLK):c.159C>G (p.Ala53=) http://identifiers.org/clinvar/379810 ^@ NM_003482.3(KMT2D):c.4271G>C (p.Cys1424Ser) http://identifiers.org/clinvar/379060 ^@ NM_000368.4(TSC1):c.2964A>G (p.Ala988=) http://identifiers.org/clinvar/385248 ^@ NM_014191.3(SCN8A):c.1342-18C>T http://identifiers.org/clinvar/389647 ^@ NM_015531.5(C2CD3):c.3082G>T (p.Asp1028Tyr) http://identifiers.org/clinvar/378910 ^@ NM_024698.5(SLC25A22):c.412+8C>G http://identifiers.org/clinvar/384648 ^@ NM_020822.2(KCNT1):c.150C>A (p.Ala50=) http://identifiers.org/clinvar/384598 ^@ NM_020822.2(KCNT1):c.637G>A (p.Val213Ile) http://identifiers.org/clinvar/383496 ^@ NM_024537.3(CARS2):c.466-18G>A http://identifiers.org/clinvar/383858 ^@ NM_006231.3(POLE):c.3084G>A (p.Glu1028=) http://identifiers.org/clinvar/383446 ^@ NM_032634.3(PIGO):c.512-7C>T http://identifiers.org/clinvar/381603 ^@ NM_001017535.1(VDR):c.1027C>T (p.Arg343Cys) http://identifiers.org/clinvar/390586 ^@ NM_000264.3(PTCH1):c.-8303G>T http://identifiers.org/clinvar/382455 ^@ NM_033087.3(ALG2):c.-36C>A http://identifiers.org/clinvar/378558 ^@ NM_014191.3(SCN8A):c.1135-13T>C http://identifiers.org/clinvar/393275 ^@ NM_000138.4(FBN1):c.7906G>A (p.Gly2636Ser) http://identifiers.org/clinvar/391736 ^@ NM_001376.4(DYNC1H1):c.4092T>C (p.Asp1364=) http://identifiers.org/clinvar/385298 ^@ NM_000059.3(BRCA2):c.682-9T>C http://identifiers.org/clinvar/390986 ^@ NM_001376.4(DYNC1H1):c.9049-19G>T http://identifiers.org/clinvar/389747 ^@ NM_000294.2(PHKG2):c.-21C>G http://identifiers.org/clinvar/379460 ^@ NM_000138.4(FBN1):c.5595C>A (p.Cys1865Ter) http://identifiers.org/clinvar/377861 ^@ NM_000138.4(FBN1):c.5283C>T (p.Thr1761=) http://identifiers.org/clinvar/391436 ^@ NM_000303.2(PMM2):c.348-8A>G http://identifiers.org/clinvar/383908 ^@ NM_000137.2(FAH):c.975G>C (p.Thr325=) http://identifiers.org/clinvar/382154 ^@ NM_020778.4(ALPK3):c.1241C>G (p.Thr414Ser) http://identifiers.org/clinvar/391036 ^@ NM_001303.3(COX10):c.-35A>G http://identifiers.org/clinvar/47463 ^@ NM_001256850.1(TTN):c.82444A>C (p.Ser27482Arg) http://identifiers.org/clinvar/47563 ^@ NM_001256850.1(TTN):c.91185G>A (p.Val30395=) http://identifiers.org/clinvar/47613 ^@ NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) http://identifiers.org/clinvar/47663 ^@ NM_133378.4(TTN):c.96077G>A (p.Arg32026His) http://identifiers.org/clinvar/47713 ^@ NM_133378.4(TTN):c.99084A>T (p.Thr33028=) http://identifiers.org/clinvar/47763 ^@ NM_001256850.1(TTN):c.10360+4593T>G http://identifiers.org/clinvar/47813 ^@ NM_001256850.1(TTN):c.10891C>T (p.Arg3631Cys) http://identifiers.org/clinvar/47863 ^@ NM_138691.2(TMC1):c.1713C>T (p.Phe571=) http://identifiers.org/clinvar/47913 ^@ NM_144573.3(NEXN):c.864+12T>A http://identifiers.org/clinvar/101 ^@ C2ORF71, TRP253TER http://identifiers.org/clinvar/428 ^@ NM_178012.4(TUBB2B):c.793T>C (p.Phe265Leu) http://identifiers.org/clinvar/778 ^@ NM_198488.3(FAM83H):c.2080G>T (p.Glu694Ter) http://identifiers.org/clinvar/787 ^@ NM_015141.3(GPD1L):c.247G>A (p.Glu83Lys) http://identifiers.org/clinvar/878 ^@ NM_000046.3(ARSB):c.349T>C (p.Cys117Arg) http://identifiers.org/clinvar/887 ^@ NM_000046.3(ARSB):c.1143-1G>C http://identifiers.org/clinvar/919 ^@ NM_000067.2(CA2):c.120T>G (p.Tyr40Ter) http://identifiers.org/clinvar/1019 ^@ NM_020631.4(PLEKHG5):c.1940T>C (p.Phe647Ser) http://identifiers.org/clinvar/1028 ^@ NM_020223.3(FAM20C):c.1364-2A>G http://identifiers.org/clinvar/1421 ^@ NM_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs) http://identifiers.org/clinvar/1467 ^@ NM_000190.3(HMBS):c.667G>A (p.Glu223Lys) http://identifiers.org/clinvar/1512 ^@ NM_000298.5(PKLR):c.110G>A (p.Gly37Glu) http://identifiers.org/clinvar/1558 ^@ LPL, 1-BP DEL, CODON 172 http://identifiers.org/clinvar/1602 ^@ NM_030916.2(NECTIN4):c.906delT (p.Pro304Hisfs) http://identifiers.org/clinvar/1652 ^@ CHMP2B, IVS5AS, G-C http://identifiers.org/clinvar/1698 ^@ NM_015040.3(PIKFYVE):c.3308A>G (p.Lys1103Arg) http://identifiers.org/clinvar/1744 ^@ GIF, IVS1DS, G-A, +1 http://identifiers.org/clinvar/1794 ^@ NM_000102.3(CYP17A1):c.1039C>T (p.Arg347Cys) http://identifiers.org/clinvar/1839 ^@ MRAP, IVS3, G DEL, +1 http://identifiers.org/clinvar/1884 ^@ NM_000255.3(MUT):c.1867G>A (p.Gly623Arg) http://identifiers.org/clinvar/143949 ^@ NM_000060.4(BTD):c.1207T>G (p.Phe403Val) http://identifiers.org/clinvar/1929 ^@ NM_020166.4(MCCC1):c.974T>G (p.Met325Arg) http://identifiers.org/clinvar/1974 ^@ ADA, IVS2DS, G-A, +1 http://identifiers.org/clinvar/2018 ^@ SLC6A19, 2-BP DEL, 884-885TG http://identifiers.org/clinvar/2063 ^@ NM_018100.3(EFHC1):c.545G>A (p.Arg182His) http://identifiers.org/clinvar/2109 ^@ DLAT, 3-BP DEL, 361GAA http://identifiers.org/clinvar/2154 ^@ NM_017929.5(PEX26):c.34dupC (p.Leu12Profs) http://identifiers.org/clinvar/10144 ^@ F8, EX13DUP http://identifiers.org/clinvar/10234 ^@ NM_000132.3(F8):c.1812G>C (p.Trp604Cys) http://identifiers.org/clinvar/10324 ^@ NM_000132.3(F8):c.6683G>T (p.Arg2228Leu) http://identifiers.org/clinvar/37123 ^@ NM_000402.4(G6PD):c.292G>A (p.Val98Met) http://identifiers.org/clinvar/10741 ^@ NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) http://identifiers.org/clinvar/10787 ^@ FRMD7, 3-BP DEL, 41AGA http://identifiers.org/clinvar/11433 ^@ NM_003413.3(ZIC3):c.968C>T (p.Thr323Met) http://identifiers.org/clinvar/11484 ^@ NM_006579.2(EBP):c.187C>T (p.Arg63Ter) http://identifiers.org/clinvar/12337 ^@ NM_001065.3(TNFRSF1A):c.175T>C (p.Cys59Arg) http://identifiers.org/clinvar/12388 ^@ TNF, -308G-A http://identifiers.org/clinvar/12440 ^@ NM_003283.5(TNNT1):c.538G>T (p.Glu180Ter) http://identifiers.org/clinvar/12490 ^@ TGM1, 1-BP DEL, 9008A http://identifiers.org/clinvar/12793 ^@ MMP3, -1171 5A/6A http://identifiers.org/clinvar/12843 ^@ NM_001024858.2(SPTB):c.5266C>T (p.Arg1756Ter) http://identifiers.org/clinvar/12894 ^@ NM_006920.4(SCN1A):c.5093C>T (p.Thr1698Ile) http://identifiers.org/clinvar/12944 ^@ NM_003124.4(SPR):c.751A>T (p.Lys251Ter) http://identifiers.org/clinvar/12995 ^@ NM_000540.2(RYR1):c.14761_14762delTTinsAC (p.Phe4921Thr) http://identifiers.org/clinvar/13046 ^@ NM_000539.3(RHO):c.448G>A (p.Glu150Lys) http://identifiers.org/clinvar/13097 ^@ NM_000326.4(RLBP1):c.452G>A (p.Arg151Gln) http://identifiers.org/clinvar/13147 ^@ NM_000448.2(RAG1):c.1286A>G (p.Asp429Gly) http://identifiers.org/clinvar/36836 ^@ NM_000458.3(HNF1B):c.-14dupT http://identifiers.org/clinvar/36887 ^@ NM_001018005.1(TPM1):c.673A>G (p.Ile225Val) http://identifiers.org/clinvar/36956 ^@ NM_002501.3(NFIX):c.568C>T (p.Gln190Ter) http://identifiers.org/clinvar/37055 ^@ NM_001172567.1(MYD88):c.818T>C (p.Leu273Pro) http://identifiers.org/clinvar/37255 ^@ NM_000218.2(KCNQ1):c.613G>A (p.Val205Met) http://identifiers.org/clinvar/37412 ^@ NM_007294.3(BRCA1):c.143delT (p.Met48Serfs) http://identifiers.org/clinvar/37464 ^@ NM_007294.3(BRCA1):c.2351C>T (p.Ser784Leu) http://identifiers.org/clinvar/37522 ^@ NM_007294.3(BRCA1):c.3327A>C (p.Lys1109Asn) http://identifiers.org/clinvar/37574 ^@ NM_007294.3(BRCA1):c.4185+2_4185+22del21insA http://identifiers.org/clinvar/37627 ^@ NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys) http://identifiers.org/clinvar/37681 ^@ NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) http://identifiers.org/clinvar/37735 ^@ NM_000059.3(BRCA2):c.1265delA (p.Asn422Ilefs) http://identifiers.org/clinvar/37787 ^@ NM_000059.3(BRCA2):c.2480dupA (p.Asn827Lysfs) http://identifiers.org/clinvar/37840 ^@ NM_000059.3(BRCA2):c.3437A>G (p.Glu1146Gly) http://identifiers.org/clinvar/37892 ^@ NM_000059.3(BRCA2):c.4284dupT (p.Gln1429Serfs) http://identifiers.org/clinvar/37945 ^@ NM_000059.3(BRCA2):c.5084A>G (p.Glu1695Gly) http://identifiers.org/clinvar/37998 ^@ NM_000059.3(BRCA2):c.5799_5802delCCAA (p.Asn1933Lysfs) http://identifiers.org/clinvar/38050 ^@ NM_000059.3(BRCA2):c.6535_6536insA (p.Val2179Aspfs) http://identifiers.org/clinvar/38103 ^@ NM_000059.3(BRCA2):c.755_758delACAG (p.Asp252Valfs) http://identifiers.org/clinvar/38153 ^@ NM_000059.3(BRCA2):c.8322dupT (p.Met2775Tyrfs) http://identifiers.org/clinvar/38203 ^@ NM_000059.3(BRCA2):c.9019A>G (p.Arg3007Gly) http://identifiers.org/clinvar/38253 ^@ NM_000059.3(BRCA2):c.9599C>G (p.Ser3200Ter) http://identifiers.org/clinvar/38315 ^@ NM_000168.5(GLI3):c.2431+1G>A http://identifiers.org/clinvar/38371 ^@ NM_004211.4(SLC6A5):c.323delC (p.Pro108Leufs) http://identifiers.org/clinvar/39592 ^@ ST3GAL3, ALA320PRO http://identifiers.org/clinvar/39644 ^@ NM_001015880.1(PAPSS2):c.1309_1310delAG (p.Arg437Glyfs) http://identifiers.org/clinvar/39696 ^@ NM_002661.4(PLCG2):c.2120C>A (p.Ser707Tyr) http://identifiers.org/clinvar/39746 ^@ NM_014014.4(SNRNP200):c.3269G>T (p.Arg1090Leu) http://identifiers.org/clinvar/39797 ^@ NM_012472.5(LRRC6):c.220G>C (p.Ala74Pro) http://identifiers.org/clinvar/39848 ^@ MEGF8, GLY199ARG http://identifiers.org/clinvar/40259 ^@ COX15, SER151TER http://identifiers.org/clinvar/40389 ^@ NM_004333.4(BRAF):c.1799T>G (p.Val600Gly) http://identifiers.org/clinvar/40454 ^@ NM_004985.4(KRAS):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/40520 ^@ NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) http://identifiers.org/clinvar/40583 ^@ NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) http://identifiers.org/clinvar/40642 ^@ NM_005633.3(SOS1):c.127G>C (p.Asp43His) http://identifiers.org/clinvar/40733 ^@ NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) http://identifiers.org/clinvar/40828 ^@ NM_030662.3(MAP2K2):c.853G>A (p.Asp285Asn) http://identifiers.org/clinvar/51913 ^@ NM_000059.3(BRCA2):c.5714A>G (p.His1905Arg) http://identifiers.org/clinvar/51965 ^@ NM_000059.3(BRCA2):c.5925T>G (p.Cys1975Trp) http://identifiers.org/clinvar/52016 ^@ NM_000059.3(BRCA2):c.6118A>T (p.Ile2040Leu) http://identifiers.org/clinvar/52067 ^@ NM_000059.3(BRCA2):c.6329A>C (p.Asp2110Ala) http://identifiers.org/clinvar/52121 ^@ NM_000059.3(BRCA2):c.652G>T (p.Glu218Ter) http://identifiers.org/clinvar/52172 ^@ NM_000059.3(BRCA2):c.673A>G (p.Thr225Ala) http://identifiers.org/clinvar/52222 ^@ NM_000059.3(BRCA2):c.6938-2A>G http://identifiers.org/clinvar/52274 ^@ NM_000059.3(BRCA2):c.7152A>G (p.Gln2384=) http://identifiers.org/clinvar/52324 ^@ NM_000059.3(BRCA2):c.741C>T (p.Ile247=) http://identifiers.org/clinvar/52374 ^@ NM_000059.3(BRCA2):c.7633G>A (p.Val2545Ile) http://identifiers.org/clinvar/52425 ^@ NM_000059.3(BRCA2):c.7846delT (p.Ser2616Leufs) http://identifiers.org/clinvar/52475 ^@ NM_000059.3(BRCA2):c.8023A>G (p.Ile2675Val) http://identifiers.org/clinvar/52525 ^@ NM_000059.3(BRCA2):c.8191C>T (p.Gln2731Ter) http://identifiers.org/clinvar/52576 ^@ NM_000059.3(BRCA2):c.8398C>T (p.Pro2800Ser) http://identifiers.org/clinvar/52626 ^@ NM_000059.3(BRCA2):c.8575C>T (p.Gln2859Ter) http://identifiers.org/clinvar/52678 ^@ NM_000059.3(BRCA2):c.8775G>C (p.Gln2925His) http://identifiers.org/clinvar/52728 ^@ NM_000059.3(BRCA2):c.9018C>A (p.Tyr3006Ter) http://identifiers.org/clinvar/52779 ^@ NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) http://identifiers.org/clinvar/52830 ^@ NM_000059.3(BRCA2):c.93G>T (p.Trp31Cys) http://identifiers.org/clinvar/52881 ^@ NM_000059.3(BRCA2):c.9648+54G>A http://identifiers.org/clinvar/52931 ^@ NM_000218.2(KCNQ1):c.1018_1020delTTT (p.Phe340del) http://identifiers.org/clinvar/52981 ^@ NM_000218.2(KCNQ1):c.1363C>T (p.His455Tyr) http://identifiers.org/clinvar/53031 ^@ NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) http://identifiers.org/clinvar/53081 ^@ NM_000218.2(KCNQ1):c.643G>A (p.Val215Met) http://identifiers.org/clinvar/53132 ^@ NM_000218.2(KCNQ1):c.926C>T (p.Thr309Ile) http://identifiers.org/clinvar/54143 ^@ NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) http://identifiers.org/clinvar/54193 ^@ NM_007294.3(BRCA1):c.130T>G (p.Cys44Gly) http://identifiers.org/clinvar/54595 ^@ NM_007294.3(BRCA1):c.2545G>T (p.Glu849Ter) http://identifiers.org/clinvar/54645 ^@ NM_007294.3(BRCA1):c.2683_2686delCAAA (p.Gln895Valfs) http://identifiers.org/clinvar/54695 ^@ NM_007294.3(BRCA1):c.2835dupT (p.Ile946Tyrfs) http://identifiers.org/clinvar/54745 ^@ NM_007294.3(BRCA1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/54795 ^@ NM_007294.3(BRCA1):c.3190A>T (p.Ser1064Cys) http://identifiers.org/clinvar/54845 ^@ NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter) http://identifiers.org/clinvar/54895 ^@ NM_007294.3(BRCA1):c.3477_3479delAAAinsC (p.Lys1160Glyfs) http://identifiers.org/clinvar/54946 ^@ NM_007294.3(BRCA1):c.3628delG (p.Glu1210Serfs) http://identifiers.org/clinvar/54997 ^@ NM_007294.3(BRCA1):c.3763_3764delAA (p.Asn1255Hisfs) http://identifiers.org/clinvar/55048 ^@ NM_007294.3(BRCA1):c.3914delA (p.Asp1305Alafs) http://identifiers.org/clinvar/55099 ^@ NM_007294.3(BRCA1):c.4081A>C (p.Met1361Leu) http://identifiers.org/clinvar/55150 ^@ NM_007294.3(BRCA1):c.4242_4243insT (p.Glu1415Terfs) http://identifiers.org/clinvar/55201 ^@ NM_007294.3(BRCA1):c.4450T>A (p.Ser1484Thr) http://identifiers.org/clinvar/55251 ^@ NM_007294.3(BRCA1):c.4649C>T (p.Thr1550Ile) http://identifiers.org/clinvar/55302 ^@ NM_007294.3(BRCA1):c.4843G>A (p.Ala1615Thr) http://identifiers.org/clinvar/55352 ^@ NM_007294.3(BRCA1):c.4997A>G (p.Tyr1666Cys) http://identifiers.org/clinvar/55402 ^@ NM_007294.3(BRCA1):c.5106delA (p.Lys1702Asnfs) http://identifiers.org/clinvar/55504 ^@ NM_007294.3(BRCA1):c.5278-6_5278-4delTTC http://identifiers.org/clinvar/55555 ^@ NM_007294.3(BRCA1):c.536delA (p.Tyr179Serfs) http://identifiers.org/clinvar/55605 ^@ NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys) http://identifiers.org/clinvar/55656 ^@ NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) http://identifiers.org/clinvar/55708 ^@ NM_007294.3(BRCA1):c.795T>C (p.Ser265=) http://identifiers.org/clinvar/55759 ^@ NM_007294.3(BRCA1):c.930delG (p.Gln310Hisfs) http://identifiers.org/clinvar/55831 ^@ NM_000540.2(RYR1):c.97A>G (p.Lys33Glu) http://identifiers.org/clinvar/55908 ^@ NM_004315.5(ASAH1):c.965+4A>G http://identifiers.org/clinvar/56679 ^@ NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) http://identifiers.org/clinvar/56729 ^@ NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) http://identifiers.org/clinvar/56779 ^@ NM_153704.5(TMEM67):c.2689_2690insTA (p.Lys897Ilefs) http://identifiers.org/clinvar/56969 ^@ NM_001127217.2(SMAD9):c.127A>G (p.Lys43Glu) http://identifiers.org/clinvar/57041 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 http://identifiers.org/clinvar/57094 ^@ GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3 http://identifiers.org/clinvar/57149 ^@ GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 http://identifiers.org/clinvar/57199 ^@ GRCh38/hg38 3p25.3(chr3:9221810-9727021)x3 http://identifiers.org/clinvar/57252 ^@ GRCh38/hg38 13q12.12(chr13:23518725-24153706)x1 http://identifiers.org/clinvar/57306 ^@ GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 http://identifiers.org/clinvar/57359 ^@ GRCh38/hg38 2p22.1(chr2:39979140-40669741)x3 http://identifiers.org/clinvar/101377 ^@ NM_000090.3(COL3A1):c.2285G>A (p.Gly762Asp) http://identifiers.org/clinvar/101427 ^@ NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) http://identifiers.org/clinvar/101477 ^@ NM_000090.3(COL3A1):c.575G>T (p.Gly192Val) http://identifiers.org/clinvar/102432 ^@ EVC2, GLY1269TER http://identifiers.org/clinvar/102490 ^@ NM_000277.1(PAH):c.1045T>G (p.Ser349Ala) http://identifiers.org/clinvar/102547 ^@ NM_000277.1(PAH):c.1183G>C (p.Ala395Pro) http://identifiers.org/clinvar/102599 ^@ NM_000277.1(PAH):c.155T>C (p.Leu52Ser) http://identifiers.org/clinvar/102654 ^@ NM_000277.1(PAH):c.353-22C>T http://identifiers.org/clinvar/102705 ^@ NM_000277.1(PAH):c.503delA (p.Tyr168Serfs) http://identifiers.org/clinvar/102755 ^@ NM_000277.1(PAH):c.609C>G (p.Cys203Trp) http://identifiers.org/clinvar/102806 ^@ NM_000277.1(PAH):c.722delG (p.Arg241Profs) http://identifiers.org/clinvar/102856 ^@ NM_000277.1(PAH):c.826A>G (p.Met276Val) http://identifiers.org/clinvar/102908 ^@ NM_000277.1(PAH):c.943G>T (p.Asp315Tyr) http://identifiers.org/clinvar/102966 ^@ NM_178844.3(NLRC3):c.-700G>C http://identifiers.org/clinvar/103016 ^@ NM_001033053.2(NLRP1):c.2529-18G>T http://identifiers.org/clinvar/103066 ^@ NM_001174081.2(NLRP2):c.3050+397_3050+399del3 http://identifiers.org/clinvar/103116 ^@ NM_022162.2(NOD2):c.1031C>T (p.Ser344Phe) http://identifiers.org/clinvar/103366 ^@ NM_178844.3(NLRC3):c.2183+249C>T http://identifiers.org/clinvar/111240 ^@ NM_005534.3(IFNGR2):c.413-25T>C http://identifiers.org/clinvar/120175 ^@ NM_000767.4(CYP2B6):c.637T>C (p.Phe213Leu) http://identifiers.org/clinvar/120252 ^@ NM_144670.5(A2ML1):c.1918G>A (p.Asp640Asn) http://identifiers.org/clinvar/120302 ^@ NM_001282227.1(ADA2):c.210C>G (p.His70Gln) http://identifiers.org/clinvar/126479 ^@ NM_021625.4(TRPV4):c.597G>C (p.Leu199Phe) http://identifiers.org/clinvar/126564 ^@ NM_003181.3(T):c.512A>G (p.His171Arg) http://identifiers.org/clinvar/126616 ^@ NM_024675.3(PALB2):c.1684+29A>G http://identifiers.org/clinvar/126668 ^@ NM_024675.3(PALB2):c.2587-?_3201+?del (p.Asn863_Met1067del) http://identifiers.org/clinvar/126718 ^@ NM_024675.3(PALB2):c.315G>C (p.Glu105Asp) http://identifiers.org/clinvar/126769 ^@ NM_024675.3(PALB2):c.758dupT (p.Ser254Ilefs) http://identifiers.org/clinvar/126820 ^@ NM_000321.2(RB1):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/126873 ^@ NM_000610.3(CD44):c.68-5908G>A http://identifiers.org/clinvar/126929 ^@ NM_001127464.2(ZNF469):c.6725C>A (p.Ser2242Tyr) http://identifiers.org/clinvar/126979 ^@ NM_000251.2(MSH2):c.1661+176A>G http://identifiers.org/clinvar/127029 ^@ NM_005591.3(MRE11):c.1500+168A>G http://identifiers.org/clinvar/127081 ^@ NM_000356.3(TCOF1):c.2876dupG (p.Ser959Argfs) http://identifiers.org/clinvar/127150 ^@ NM_005861.3(STUB1):c.236C>A (p.Ala79Asp) http://identifiers.org/clinvar/127252 ^@ NM_001127255.1(NLRP7):c.-123C>T http://identifiers.org/clinvar/127303 ^@ NM_000038.5(APC):c.5138T>C (p.Leu1713Ser) http://identifiers.org/clinvar/127353 ^@ NM_000051.3(ATM):c.2564T>C (p.Met855Thr) http://identifiers.org/clinvar/127403 ^@ NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) http://identifiers.org/clinvar/127453 ^@ NM_000051.3(ATM):c.7998dupT (p.Met2667Tyrfs) http://identifiers.org/clinvar/127504 ^@ NM_000057.3(BLM):c.3751G>C (p.Glu1251Gln) http://identifiers.org/clinvar/127554 ^@ NM_000179.2(MSH6):c.1106C>T (p.Thr369Ile) http://identifiers.org/clinvar/127604 ^@ NM_000179.2(MSH6):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/127655 ^@ NM_000251.2(MSH2):c.932delA (p.Asn311Thrfs) http://identifiers.org/clinvar/127714 ^@ NM_000465.3(BARD1):c.1289C>G (p.Thr430Ser) http://identifiers.org/clinvar/127764 ^@ NM_000535.6(PMS2):c.1593_1610dup18 (p.Glu537_Lys538insHisValAspSerGlnGlu) http://identifiers.org/clinvar/127815 ^@ NM_000546.5(TP53):c.535C>T (p.His179Tyr) http://identifiers.org/clinvar/159959 ^@ NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) http://identifiers.org/clinvar/160834 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146009630)x1 http://identifiers.org/clinvar/160887 ^@ GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1 http://identifiers.org/clinvar/160939 ^@ GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x0 http://identifiers.org/clinvar/160989 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 http://identifiers.org/clinvar/161040 ^@ GRCh38/hg38 1q41(chr1:215206760-222004068)x1 http://identifiers.org/clinvar/162060 ^@ NM_001244008.1(KIF1A):c.946C>T (p.Arg316Trp) http://identifiers.org/clinvar/162120 ^@ NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter) http://identifiers.org/clinvar/162179 ^@ NM_013356.2(SLC16A8):c.1198+571G>A http://identifiers.org/clinvar/162391 ^@ NM_002335.3(LRP5):c.3562C>T (p.Arg1188Trp) http://identifiers.org/clinvar/162472 ^@ NM_004208.3(AIFM1):c.-123G>C http://identifiers.org/clinvar/162525 ^@ NM_001875.4(CPS1):c.3037_3039delGTG (p.Val1013del) http://identifiers.org/clinvar/162612 ^@ NM_003392.4(WNT5A):c.257A>G (p.Tyr86Cys) http://identifiers.org/clinvar/163535 ^@ NM_024009.2(GJB3):c.598G>A (p.Val200Ile) http://identifiers.org/clinvar/180049 ^@ NM_013296.4(GPSM2):c.1021G>A (p.Ala341Thr) http://identifiers.org/clinvar/163643 ^@ NM_013296.4(GPSM2):c.1876G>C (p.Val626Leu) http://identifiers.org/clinvar/178681 ^@ NM_007123.5(USH2A):c.4543A>G (p.Thr1515Ala) http://identifiers.org/clinvar/179449 ^@ NM_144573.3(NEXN):c.1181_1182delAG (p.Glu394Glyfs) http://identifiers.org/clinvar/179199 ^@ NM_133378.4(TTN):c.60631C>A (p.His20211Asn) http://identifiers.org/clinvar/179349 ^@ NM_133378.4(TTN):c.71007T>A (p.Ser23669=) http://identifiers.org/clinvar/179049 ^@ NM_133378.4(TTN):c.36646G>A (p.Asp12216Asn) http://identifiers.org/clinvar/178899 ^@ NM_133378.4(TTN):c.26856G>A (p.Val8952=) http://identifiers.org/clinvar/180099 ^@ NM_133378.4(TTN):c.24209T>A (p.Val8070Asp) http://identifiers.org/clinvar/179399 ^@ NM_005219.4(DIAPH1):c.3662-14G>A http://identifiers.org/clinvar/166292 ^@ NM_133378.4(TTN):c.9908C>T (p.Pro3303Leu) http://identifiers.org/clinvar/179649 ^@ NM_001256850.1(TTN):c.2280C>T (p.Val760=) http://identifiers.org/clinvar/179699 ^@ NM_001369.2(DNAH5):c.7502G>C (p.Arg2501Pro) http://identifiers.org/clinvar/163160 ^@ NM_001369.2(DNAH5):c.832delG (p.Ala278Argfs) http://identifiers.org/clinvar/162857 ^@ NM_178335.2(CCDC50):c.883G>T (p.Asp295Tyr) http://identifiers.org/clinvar/179949 ^@ NM_016203.3(PRKAG2):c.864+13C>T http://identifiers.org/clinvar/163376 ^@ NM_005228.4(EGFR):c.2311A>G (p.Asn771Asp) http://identifiers.org/clinvar/163110 ^@ NM_001277115.1(DNAH11):c.7626G>A (p.Thr2542=) http://identifiers.org/clinvar/201943 ^@ NM_144573.3(NEXN):c.1595T>C (p.Ile532Thr) http://identifiers.org/clinvar/201725 ^@ NM_001927.3(DES):c.1324A>G (p.Thr442Ala) http://identifiers.org/clinvar/202115 ^@ NM_024334.2(TMEM43):c.98C>T (p.Ser33Leu) http://identifiers.org/clinvar/202056 ^@ NM_001134363.2(RBM20):c.1183C>T (p.Gln395Ter) http://identifiers.org/clinvar/201886 ^@ NM_032578.3(MYPN):c.2168C>T (p.Pro723Leu) http://identifiers.org/clinvar/201835 ^@ NM_007078.2(LDB3):c.328G>A (p.Ala110Thr) http://identifiers.org/clinvar/201669 ^@ NM_014391.2(ANKRD1):c.944G>A (p.Arg315His) http://identifiers.org/clinvar/201999 ^@ NM_004572.3(PKP2):c.1872G>T (p.Glu624Asp) http://identifiers.org/clinvar/201779 ^@ NM_000117.2(EMD):c.65C>T (p.Pro22Leu) http://identifiers.org/clinvar/202173 ^@ NM_006920.4(SCN1A):c.4411A>C (p.Ile1471Leu) http://identifiers.org/clinvar/202223 ^@ NC_000023.10:g.(?_6456777)_(8119329_?)del http://identifiers.org/clinvar/203017 ^@ NM_001256850.1(TTN):c.90950G>A (p.Arg30317Gln) http://identifiers.org/clinvar/202967 ^@ NM_001256850.1(TTN):c.85469T>C (p.Val28490Ala) http://identifiers.org/clinvar/202917 ^@ NM_001256850.1(TTN):c.78083G>T (p.Arg26028Met) http://identifiers.org/clinvar/202867 ^@ NM_001256850.1(TTN):c.71643_71644insAAG (p.Ile23881_Arg23882insLys) http://identifiers.org/clinvar/202401 ^@ NM_001256850.1(TTN):c.64793-1G>T http://identifiers.org/clinvar/202817 ^@ NM_001256850.1(TTN):c.63868A>C (p.Ser21290Arg) http://identifiers.org/clinvar/233435 ^@ NM_000038.5(APC):c.6322G>A (p.Ala2108Thr) http://identifiers.org/clinvar/233085 ^@ NM_005732.3(RAD50):c.1436A>G (p.Gln479Arg) http://identifiers.org/clinvar/230235 ^@ NM_005732.3(RAD50):c.1698G>A (p.Leu566=) http://identifiers.org/clinvar/233285 ^@ NM_005732.3(RAD50):c.2174G>T (p.Arg725Leu) http://identifiers.org/clinvar/234088 ^@ NM_005732.3(RAD50):c.2383A>G (p.Met795Val) http://identifiers.org/clinvar/234238 ^@ NM_002485.4(NBN):c.2070+4G>A http://identifiers.org/clinvar/233135 ^@ NM_002485.4(NBN):c.1007C>T (p.Thr336Ile) http://identifiers.org/clinvar/233635 ^@ NM_000051.3(ATM):c.2584C>A (p.Pro862Thr) http://identifiers.org/clinvar/233736 ^@ NM_000051.3(ATM):c.3362A>G (p.Glu1121Gly) http://identifiers.org/clinvar/233837 ^@ NM_000051.3(ATM):c.4236+1G>T http://identifiers.org/clinvar/230535 ^@ NM_000051.3(ATM):c.4574T>C (p.Ile1525Thr) http://identifiers.org/clinvar/230185 ^@ NM_000051.3(ATM):c.6602T>C (p.Val2201Ala) http://identifiers.org/clinvar/230335 ^@ NM_000051.3(ATM):c.7725A>G (p.Pro2575=) http://identifiers.org/clinvar/233938 ^@ NM_000051.3(ATM):c.7989_7991delTGT (p.Val2664del) http://identifiers.org/clinvar/230035 ^@ NM_000059.3(BRCA2):c.3121A>G (p.Ser1041Gly) http://identifiers.org/clinvar/233535 ^@ NM_000059.3(BRCA2):c.3447G>A (p.Met1149Ile) http://identifiers.org/clinvar/234138 ^@ NM_000059.3(BRCA2):c.7781A>G (p.Lys2594Arg) http://identifiers.org/clinvar/233185 ^@ NM_000059.3(BRCA2):c.8552C>T (p.Ala2851Val) http://identifiers.org/clinvar/229835 ^@ NM_024675.3(PALB2):c.2199T>C (p.Thr733=) http://identifiers.org/clinvar/230085 ^@ NM_004360.4(CDH1):c.1464T>A (p.Pro488=) http://identifiers.org/clinvar/233235 ^@ NM_001042492.2(NF1):c.389A>T (p.His130Leu) http://identifiers.org/clinvar/233485 ^@ NM_001042492.2(NF1):c.417T>C (p.Ser139=) http://identifiers.org/clinvar/233335 ^@ NM_001042492.2(NF1):c.3749G>A (p.Arg1250Gln) http://identifiers.org/clinvar/230435 ^@ NM_001042492.2(NF1):c.3813G>A (p.Met1271Ile) http://identifiers.org/clinvar/230135 ^@ NM_001042492.2(NF1):c.4110+3A>G http://identifiers.org/clinvar/234038 ^@ NM_007294.3(BRCA1):c.3990C>T (p.Ser1330=) http://identifiers.org/clinvar/229985 ^@ NM_007294.3(BRCA1):c.3475A>G (p.Ile1159Val) http://identifiers.org/clinvar/230485 ^@ NM_007294.3(BRCA1):c.2719G>T (p.Glu907Ter) http://identifiers.org/clinvar/233787 ^@ NM_007294.3(BRCA1):c.2580A>G (p.Thr860=) http://identifiers.org/clinvar/230385 ^@ NM_032043.2(BRIP1):c.1794+5G>A http://identifiers.org/clinvar/230285 ^@ NM_000546.5(TP53):c.158G>A (p.Trp53Ter) http://identifiers.org/clinvar/235239 ^@ NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) http://identifiers.org/clinvar/235293 ^@ NM_000342.3(SLC4A1):c.1825G>A (p.Gly609Arg) http://identifiers.org/clinvar/235345 ^@ NM_014363.5(SACS):c.8344G>A (p.Ala2782Thr) http://identifiers.org/clinvar/235399 ^@ NM_000790.3(DDC):c.629C>T (p.Pro210Leu) http://identifiers.org/clinvar/235455 ^@ NM_005629.3(SLC6A8):c.262+6T>C http://identifiers.org/clinvar/235506 ^@ NM_020751.2(COG6):c.1180A>G (p.Asn394Asp) http://identifiers.org/clinvar/235560 ^@ NM_000158.3(GBE1):c.2017G>A (p.Ala673Thr) http://identifiers.org/clinvar/235610 ^@ NM_198428.2(BBS9):c.736C>T (p.Leu246Phe) http://identifiers.org/clinvar/235716 ^@ NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) http://identifiers.org/clinvar/235778 ^@ NM_001278716.1(FBXL4):c.1546_1563del18 (p.Pro516_Ser521del) http://identifiers.org/clinvar/235850 ^@ NM_181303.1(NLGN3):c.1849C>T (p.Arg617Trp) http://identifiers.org/clinvar/236034 ^@ NM_004999.3(MYO6):c.1473_1473+2delGGTinsC http://identifiers.org/clinvar/236134 ^@ NM_000350.2(ABCA4):c.5513A>G (p.His1838Arg) http://identifiers.org/clinvar/236084 ^@ NM_000350.2(ABCA4):c.1692A>G (p.Pro564=) http://identifiers.org/clinvar/236184 ^@ NM_014625.3(NPHS2):c.451+58A>T http://identifiers.org/clinvar/236272 ^@ NM_007294.3(BRCA1):c.4576G>T (p.Glu1526Ter) http://identifiers.org/clinvar/236323 ^@ NC_000002.10:g.156460167_157638982del1178816 http://identifiers.org/clinvar/236373 ^@ NC_000015.9:g.23624148_28790734dup5166587 http://identifiers.org/clinvar/236474 ^@ NM_201253.2(CRB1):c.2843-1G>A http://identifiers.org/clinvar/236524 ^@ NM_006017.2(PROM1):c.1632G>T (p.Gly544=) http://identifiers.org/clinvar/236424 ^@ NM_015629.3(PRPF31):c.994C>T (p.Gln332Ter) http://identifiers.org/clinvar/238670 ^@ NM_001232.3(CASQ2):c.361C>T (p.Arg121Cys) http://identifiers.org/clinvar/240764 ^@ NM_007272.2(CTRC):c.286G>A (p.Glu96Lys) http://identifiers.org/clinvar/239424 ^@ NM_003000.2(SDHB):c.200+7A>G http://identifiers.org/clinvar/240964 ^@ NM_015102.4(NPHP4):c.1376C>A (p.Thr459Lys) http://identifiers.org/clinvar/241864 ^@ NM_144573.3(NEXN):c.1089A>C (p.Thr363=) http://identifiers.org/clinvar/238870 ^@ NM_001267550.2(TTN):c.96069dupT (p.Val32024Cysfs) http://identifiers.org/clinvar/238820 ^@ NM_001267550.2(TTN):c.62696A>G (p.Tyr20899Cys) http://identifiers.org/clinvar/238770 ^@ NM_001267550.2(TTN):c.39851A>G (p.Lys13284Arg) http://identifiers.org/clinvar/238720 ^@ NM_001267550.2(TTN):c.22343T>C (p.Ile7448Thr) http://identifiers.org/clinvar/239071 ^@ NM_001927.3(DES):c.1013T>C (p.Leu338Pro) http://identifiers.org/clinvar/241964 ^@ NM_152383.4(DIS3L2):c.1806C>T (p.Pro602=) http://identifiers.org/clinvar/239121 ^@ NM_002354.2(EPCAM):c.141G>A (p.Gln47=) http://identifiers.org/clinvar/237129 ^@ NM_000179.2(MSH6):c.117G>A (p.Gly39=) http://identifiers.org/clinvar/237179 ^@ NM_000179.2(MSH6):c.3172+9_3172+10delTT http://identifiers.org/clinvar/241014 ^@ NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) http://identifiers.org/clinvar/241764 ^@ NM_053025.3(MYLK):c.593A>G (p.Asn198Ser) http://identifiers.org/clinvar/238570 ^@ NM_001148.4(ANK2):c.1401A>G (p.Ala467=) http://identifiers.org/clinvar/240914 ^@ NM_014476.5(PDLIM3):c.246-9_246-5delTATTT http://identifiers.org/clinvar/240364 ^@ NM_006206.4(PDGFRA):c.855T>C (p.Ser285=) http://identifiers.org/clinvar/236574 ^@ NM_000038.5(APC):c.2492T>C (p.Leu831Ser) http://identifiers.org/clinvar/236624 ^@ NM_000038.5(APC):c.5917delA (p.Ser1973Valfs) http://identifiers.org/clinvar/238970 ^@ NM_001369.2(DNAH5):c.330A>T (p.Lys110Asn) http://identifiers.org/clinvar/241214 ^@ NM_017838.3(NHP2):c.351C>T (p.Ala117=) http://identifiers.org/clinvar/238620 ^@ NM_001190787.1(MCIDAS):c.638A>G (p.Glu213Gly) http://identifiers.org/clinvar/241414 ^@ NM_021930.5(RINT1):c.732C>T (p.Ile244=) http://identifiers.org/clinvar/238920 ^@ NM_001277115.1(DNAH11):c.4598T>G (p.Ile1533Ser) http://identifiers.org/clinvar/262063 ^@ NM_032446.2(MEGF10):c.1626C>T (p.Cys542=) http://identifiers.org/clinvar/258523 ^@ NM_001999.3(FBN2):c.6637+39A>G http://identifiers.org/clinvar/259373 ^@ NM_004385.4(VCAN):c.645A>G (p.Val215=) http://identifiers.org/clinvar/256084 ^@ NM_000426.3(LAMA2):c.6993-44T>C http://identifiers.org/clinvar/262163 ^@ NM_033071.3(SYNE1):c.1372-27T>C http://identifiers.org/clinvar/262013 ^@ NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) http://identifiers.org/clinvar/256284 ^@ NM_000500.7(CYP21A2):c.-4C>T http://identifiers.org/clinvar/261113 ^@ NM_019105.6(TNXB):c.11541A>G (p.Thr3847=) http://identifiers.org/clinvar/261163 ^@ NM_019105.6(TNXB):c.7680C>T (p.Asp2560=) http://identifiers.org/clinvar/259323 ^@ NM_004370.5(COL12A1):c.2007G>A (p.Ala669=) http://identifiers.org/clinvar/261063 ^@ NM_018947.5(CYCS):c.-6T>G http://identifiers.org/clinvar/261963 ^@ NM_031443.3(CCM2):c.*14G>T http://identifiers.org/clinvar/258773 ^@ NM_002546.3(TNFRSF11B):c.768A>G (p.Leu256=) http://identifiers.org/clinvar/261313 ^@ NM_020476.2(ANK1):c.450A>G (p.Val150=) http://identifiers.org/clinvar/260913 ^@ NM_017780.3(CHD7):c.6225A>G (p.Gly2075=) http://identifiers.org/clinvar/260413 ^@ NM_014425.4(INVS):c.2787-23C>G http://identifiers.org/clinvar/257334 ^@ NM_001079802.1(FKTN):c.910+13C>T http://identifiers.org/clinvar/258623 ^@ NM_002316.3(LMX1B):c.429C>T (p.Cys143=) http://identifiers.org/clinvar/254745 ^@ NM_000050.4(ASS1):c.364-6T>C http://identifiers.org/clinvar/260513 ^@ NM_015046.5(SETX):c.6655-24G>A http://identifiers.org/clinvar/261363 ^@ NM_020822.2(KCNT1):c.3502+16G>A http://identifiers.org/clinvar/255684 ^@ NM_000264.3(PTCH1):c.3804+32T>C http://identifiers.org/clinvar/260463 ^@ NM_014915.2(ANKRD26):c.2679A>G (p.Gln893=) http://identifiers.org/clinvar/262113 ^@ NM_032844.4(MASTL):c.-28C>A http://identifiers.org/clinvar/258823 ^@ NM_002860.3(ALDH18A1):c.1029T>C (p.Ile343=) http://identifiers.org/clinvar/255934 ^@ NM_000352.4(ABCC8):c.822+20C>T http://identifiers.org/clinvar/259023 ^@ NM_003282.3(TNNI2):c.276+30C>T http://identifiers.org/clinvar/258973 ^@ NM_003156.3(STIM1):c.1612C>T (p.Pro538Ser) http://identifiers.org/clinvar/259623 ^@ NM_005055.4(RAPSN):c.1041G>A (p.Ala347=) http://identifiers.org/clinvar/259173 ^@ NM_003793.3(CTSF):c.939G>A (p.Gly313=) http://identifiers.org/clinvar/258573 ^@ NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) http://identifiers.org/clinvar/261463 ^@ NM_021957.3(GYS2):c.1169+12A>T http://identifiers.org/clinvar/261213 ^@ NM_020297.3(ABCC9):c.1164+23C>A http://identifiers.org/clinvar/256684 ^@ NM_000552.4(VWF):c.546G>A (p.Ser182=) http://identifiers.org/clinvar/261413 ^@ NM_021150.3(GRIP1):c.724+10G>A http://identifiers.org/clinvar/255734 ^@ NM_000282.3(PCCA):c.1644-31A>G http://identifiers.org/clinvar/261613 ^@ NM_022489.3(INF2):c.3066T>C (p.Asp1022=) http://identifiers.org/clinvar/255634 ^@ NM_000257.3(MYH7):c.870G>A (p.Leu290=) http://identifiers.org/clinvar/261013 ^@ NM_018139.2(DNAAF2):c.1494G>A (p.Ser498=) http://identifiers.org/clinvar/334910 ^@ NM_004509.3(SP110):c.619G>A (p.Glu207Lys) http://identifiers.org/clinvar/335010 ^@ NM_005199.4(CHRNG):c.1074C>T (p.His358=) http://identifiers.org/clinvar/336627 ^@ NM_001039348.2(EFEMP1):c.640+6T>C http://identifiers.org/clinvar/333958 ^@ NM_015040.3(PIKFYVE):c.*1499T>G http://identifiers.org/clinvar/334109 ^@ NM_000384.2(APOB):c.9811G>A (p.Gly3271Ser) http://identifiers.org/clinvar/336427 ^@ NM_000251.2(MSH2):c.942+28_942+29delAA http://identifiers.org/clinvar/336477 ^@ NM_000145.3(FSHR):c.*199A>G http://identifiers.org/clinvar/336527 ^@ NM_001135659.2(NRXN1):c.*1019G>A http://identifiers.org/clinvar/334210 ^@ NM_173076.2(ABCA12):c.*664C>G http://identifiers.org/clinvar/336677 ^@ NM_002618.3(PEX13):c.*358G>A http://identifiers.org/clinvar/337616 ^@ NM_020184.3(CNNM4):c.*1974C>T http://identifiers.org/clinvar/336777 ^@ NM_015910.5(WDPCP):c.-301G>A http://identifiers.org/clinvar/334510 ^@ NM_015311.2(OBSL1):c.2085C>T (p.Val695=) http://identifiers.org/clinvar/334360 ^@ NM_004328.4(BCS1L):c.822G>A (p.Pro274=) http://identifiers.org/clinvar/342296 ^@ NM_016247.3(IMPG2):c.*2278C>G http://identifiers.org/clinvar/334560 ^@ NM_181457.3(PAX3):c.807C>T (p.Asn269=) http://identifiers.org/clinvar/342496 ^@ NM_000551.3(VHL):c.*3222A>G http://identifiers.org/clinvar/342746 ^@ NM_000187.3(HGD):c.550-14G>C http://identifiers.org/clinvar/337666 ^@ NM_001298.2(CNGA3):c.1845G>T (p.Glu615Asp) http://identifiers.org/clinvar/334810 ^@ NM_000091.4(COL4A3):c.*1645delG http://identifiers.org/clinvar/334960 ^@ NM_152383.4(DIS3L2):c.*361delG http://identifiers.org/clinvar/342446 ^@ NM_000551.3(VHL):c.*1721C>G http://identifiers.org/clinvar/343296 ^@ NM_000539.3(RHO):c.*633G>A http://identifiers.org/clinvar/343496 ^@ NM_024334.2(TMEM43):c.-154G>T http://identifiers.org/clinvar/343546 ^@ NM_024334.2(TMEM43):c.*1867A>G http://identifiers.org/clinvar/342796 ^@ NM_000388.3(CASR):c.915C>A (p.Ile305=) http://identifiers.org/clinvar/343846 ^@ NM_005677.3(COLQ):c.1081C>T (p.Pro361Ser) http://identifiers.org/clinvar/342946 ^@ NM_000373.3(UMPS):c.*993A>T http://identifiers.org/clinvar/350775 ^@ NM_001999.3(FBN2):c.3752G>A (p.Gly1251Glu) http://identifiers.org/clinvar/350725 ^@ NM_198253.2(TERT):c.2383-15C>T http://identifiers.org/clinvar/350825 ^@ NM_003060.3(SLC22A5):c.*654G>C http://identifiers.org/clinvar/350875 ^@ NM_000358.2(TGFBI):c.678C>T (p.Asn226=) http://identifiers.org/clinvar/358041 ^@ NM_004999.3(MYO6):c.*3296G>T http://identifiers.org/clinvar/350925 ^@ NM_017415.2(KLHL3):c.*4065C>T http://identifiers.org/clinvar/351025 ^@ NM_006790.2(MYOT):c.533G>A (p.Arg178His) http://identifiers.org/clinvar/358141 ^@ NM_022726.3(ELOVL4):c.*217C>G http://identifiers.org/clinvar/355051 ^@ NM_014845.5(FIG4):c.*29G>A http://identifiers.org/clinvar/355352 ^@ NM_006208.2(ENPP1):c.2236A>C (p.Asn746His) http://identifiers.org/clinvar/351275 ^@ NM_005219.4(DIAPH1):c.*709C>T http://identifiers.org/clinvar/355502 ^@ NM_017651.4(AHI1):c.2589G>A (p.Glu863=) http://identifiers.org/clinvar/355602 ^@ NM_003764.3(STX11):c.427A>G (p.Met143Val) http://identifiers.org/clinvar/355652 ^@ NM_003764.3(STX11):c.*3599A>G http://identifiers.org/clinvar/351425 ^@ NM_054027.4(ANKH):c.*3900delT http://identifiers.org/clinvar/355752 ^@ NM_203395.2(IYD):c.*3399T>C http://identifiers.org/clinvar/351525 ^@ NM_006846.3(SPINK5):c.1605G>T (p.Val535=) http://identifiers.org/clinvar/351575 ^@ NM_024577.3(SH3TC2):c.*21703G>A http://identifiers.org/clinvar/355902 ^@ NM_033071.3(SYNE1):c.8026-3C>T http://identifiers.org/clinvar/351625 ^@ NM_024577.3(SH3TC2):c.*16905T>G http://identifiers.org/clinvar/351875 ^@ NM_024577.3(SH3TC2):c.*882G>A http://identifiers.org/clinvar/351725 ^@ NM_024577.3(SH3TC2):c.*10052C>T http://identifiers.org/clinvar/351975 ^@ NM_000440.2(PDE6A):c.*241dupA http://identifiers.org/clinvar/351775 ^@ NM_024577.3(SH3TC2):c.*7189C>G http://identifiers.org/clinvar/351825 ^@ NM_024577.3(SH3TC2):c.*4298C>T http://identifiers.org/clinvar/356252 ^@ NM_000063.5(C2):c.1602T>C (p.Leu534=) http://identifiers.org/clinvar/356402 ^@ NM_080680.2(COL11A2):c.2182A>T (p.Ile728Phe) http://identifiers.org/clinvar/353362 ^@ NM_133433.3(NIPBL):c.-416dupC http://identifiers.org/clinvar/353412 ^@ NM_023073.3(C5orf42):c.*94G>T http://identifiers.org/clinvar/353212 ^@ NM_016180.4(SLC45A2):c.1351C>T (p.Arg451Cys) http://identifiers.org/clinvar/361190 ^@ NM_178857.5(RP1L1):c.*335T>G http://identifiers.org/clinvar/361290 ^@ NM_178857.5(RP1L1):c.4019_4027delAAACTAAAGinsGGACTA (p.Glu1340_Glu1343delinsGlyThrLys) http://identifiers.org/clinvar/353662 ^@ NM_000436.3(OXCT1):c.733-3T>C http://identifiers.org/clinvar/361550 ^@ NM_014112.4(TRPS1):c.*3338C>T http://identifiers.org/clinvar/353712 ^@ NM_000163.4(GHR):c.*1847T>G http://identifiers.org/clinvar/357941 ^@ NM_004415.3(DSP):c.1840G>A (p.Asp614Asn) http://identifiers.org/clinvar/361750 ^@ NM_004519.3(KCNQ3):c.*7506C>T http://identifiers.org/clinvar/353512 ^@ NM_000514.3(GDNF):c.*717T>G http://identifiers.org/clinvar/361850 ^@ NM_004519.3(KCNQ3):c.*1478G>A http://identifiers.org/clinvar/306235 ^@ NM_024698.5(SLC25A22):c.*1057C>A http://identifiers.org/clinvar/363839 ^@ NM_000067.2(CA2):c.*303C>T http://identifiers.org/clinvar/299992 ^@ NM_002900.2(RBP3):c.1007T>C (p.Val336Ala) http://identifiers.org/clinvar/300042 ^@ NM_000124.3(ERCC6):c.3804C>T (p.His1268=) http://identifiers.org/clinvar/306536 ^@ NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) http://identifiers.org/clinvar/364239 ^@ NM_014425.4(INVS):c.*468_*469dupCA http://identifiers.org/clinvar/364039 ^@ NM_001001557.3(GDF6):c.*144G>A http://identifiers.org/clinvar/364289 ^@ NM_000035.3(ALDOB):c.*1003A>G http://identifiers.org/clinvar/300292 ^@ NM_018055.4(NODAL):c.*676C>T http://identifiers.org/clinvar/364439 ^@ NM_005502.3(ABCA1):c.1996C>T (p.Arg666Trp) http://identifiers.org/clinvar/364589 ^@ NM_003640.4(IKBKAP):c.-158C>G http://identifiers.org/clinvar/364639 ^@ NM_000031.5(ALAD):c.*106C>G http://identifiers.org/clinvar/300592 ^@ NM_004273.4(CHST3):c.*1042C>G http://identifiers.org/clinvar/364739 ^@ NM_012210.3(TRIM32):c.*1411_*1414dupAATA http://identifiers.org/clinvar/364539 ^@ NM_003640.4(IKBKAP):c.*1259C>G http://identifiers.org/clinvar/364689 ^@ NM_015404.3(WHRN):c.1351G>C (p.Gly451Arg) http://identifiers.org/clinvar/364839 ^@ NM_000177.4(GSN):c.*124_*125insC http://identifiers.org/clinvar/308075 ^@ NM_004985.4(KRAS):c.*3401T>A http://identifiers.org/clinvar/308375 ^@ NM_139241.3(FGD4):c.*5152C>T http://identifiers.org/clinvar/308475 ^@ NM_004572.3(PKP2):c.*1196G>A http://identifiers.org/clinvar/308825 ^@ NM_001017535.1(VDR):c.*2227G>A http://identifiers.org/clinvar/365728 ^@ NM_000093.4(COL5A1):c.4370C>T (p.Pro1457Leu) http://identifiers.org/clinvar/365878 ^@ NM_019892.5(INPP5E):c.1743G>A (p.Thr581=) http://identifiers.org/clinvar/302181 ^@ NM_001025389.1(AMPD3):c.*694A>G http://identifiers.org/clinvar/366379 ^@ NM_003383.4(VLDLR):c.*180G>A http://identifiers.org/clinvar/302431 ^@ NM_001885.2(CRYAB):c.375A>C (p.Pro125=) http://identifiers.org/clinvar/302481 ^@ NM_003002.3(SDHD):c.53C>T (p.Ala18Val) http://identifiers.org/clinvar/302581 ^@ NM_174934.3(SCN4B):c.*3632delT http://identifiers.org/clinvar/366329 ^@ NM_003070.4(SMARCA2):c.*9G>C http://identifiers.org/clinvar/366779 ^@ NM_003995.3(NPR2):c.336C>G (p.Ala112=) http://identifiers.org/clinvar/302831 ^@ NM_005188.3(CBL):c.*3154C>T http://identifiers.org/clinvar/366429 ^@ NM_000459.4(TEK):c.1734G>A (p.Val578=) http://identifiers.org/clinvar/366879 ^@ NM_016042.3(EXOSC3):c.-11T>C http://identifiers.org/clinvar/306736 ^@ NM_018979.3(WNK1):c.*2562G>A http://identifiers.org/clinvar/366929 ^@ NM_001042413.1(GLIS3):c.*1800_*1801insC http://identifiers.org/clinvar/303081 ^@ NM_006918.4(SC5D):c.*2648A>T http://identifiers.org/clinvar/314368 ^@ NM_001040108.1(MLH3):c.*772T>A http://identifiers.org/clinvar/314418 ^@ NM_017791.2(FLVCR2):c.1441G>A (p.Ala481Thr) http://identifiers.org/clinvar/340707 ^@ NM_014339.6(IL17RA):c.*4205G>A http://identifiers.org/clinvar/314618 ^@ NM_004863.3(SPTLC2):c.*2910_*2912delGAG http://identifiers.org/clinvar/340857 ^@ NM_004782.3(SNAP29):c.*780G>T http://identifiers.org/clinvar/340907 ^@ NM_003073.4(SMARCB1):c.-148T>C http://identifiers.org/clinvar/341007 ^@ NM_022081.5(HPS4):c.1535C>T (p.Ser512Leu) http://identifiers.org/clinvar/341207 ^@ NM_000355.3(TCN2):c.941-13C>T http://identifiers.org/clinvar/313568 ^@ NM_182914.2(SYNE2):c.12190G>A (p.Val4064Ile) http://identifiers.org/clinvar/313918 ^@ NM_015346.3(ZFYVE26):c.1369C>G (p.Leu457Val) http://identifiers.org/clinvar/313968 ^@ NM_000021.3(PSEN1):c.*1585A>T http://identifiers.org/clinvar/314168 ^@ NM_005589.3(ALDH6A1):c.1604G>A (p.Arg535His) http://identifiers.org/clinvar/316157 ^@ NM_014080.4(DUOX2):c.3081G>A (p.Lys1027=) http://identifiers.org/clinvar/323992 ^@ NM_000080.3(CHRNE):c.723C>T (p.Leu241=) http://identifiers.org/clinvar/316207 ^@ NM_001482.2(GATM):c.*595C>A http://identifiers.org/clinvar/324148 ^@ NM_053013.3(ENO3):c.993C>T (p.Ala331=) http://identifiers.org/clinvar/316257 ^@ NM_000338.2(SLC12A1):c.828G>A (p.Val276=) http://identifiers.org/clinvar/368347 ^@ NM_003334.3(UBA1):c.2839-7C>T http://identifiers.org/clinvar/316357 ^@ NM_000138.4(FBN1):c.*254C>T http://identifiers.org/clinvar/316507 ^@ NM_182758.3(WDR72):c.*2687_*2690dupATAT http://identifiers.org/clinvar/314568 ^@ NM_013382.5(POMT2):c.-149C>A http://identifiers.org/clinvar/324351 ^@ NM_032043.2(BRIP1):c.2741T>C (p.Leu914Ser) http://identifiers.org/clinvar/316707 ^@ NM_000942.4(PPIB):c.-57G>A http://identifiers.org/clinvar/368747 ^@ NM_021998.4(ZNF711):c.2024C>T (p.Pro675Leu) http://identifiers.org/clinvar/324601 ^@ NM_014336.4(AIPL1):c.*153delC http://identifiers.org/clinvar/316857 ^@ NM_005902.3(SMAD3):c.-164A>C http://identifiers.org/clinvar/324701 ^@ NM_031220.3(PITPNM3):c.*2334_*2335delGA http://identifiers.org/clinvar/317057 ^@ NM_033028.4(BBS4):c.-14T>A http://identifiers.org/clinvar/325001 ^@ NM_023036.4(DNAI2):c.-54A>G http://identifiers.org/clinvar/325051 ^@ NM_173477.4(USH1G):c.*63C>T http://identifiers.org/clinvar/325601 ^@ NM_006640.4(SEPT9):c.*876C>T http://identifiers.org/clinvar/316307 ^@ NM_000138.4(FBN1):c.*2360C>G http://identifiers.org/clinvar/318149 ^@ NM_001143979.1(NDE1):c.*1784A>G http://identifiers.org/clinvar/373068 ^@ NM_006912.5(RIT1):c.118C>T (p.Gln40Ter) http://identifiers.org/clinvar/373018 ^@ NM_001256850.1(TTN):c.22542_22543delTA (p.Asp7514Glufs) http://identifiers.org/clinvar/373218 ^@ NM_017875.2(SLC25A38):c.166C>T (p.Gln56Ter) http://identifiers.org/clinvar/373168 ^@ NM_033071.3(SYNE1):c.11580A>G (p.Ser3860=) http://identifiers.org/clinvar/372917 ^@ NM_001101.3(ACTB):c.479C>T (p.Thr160Ile) http://identifiers.org/clinvar/373418 ^@ NM_000941.2(POR):c.581G>A (p.Arg194Gln) http://identifiers.org/clinvar/373668 ^@ NM_000314.6(PTEN):c.984_998dupAAATAAAGACAAAGC (p.Asn334_Arg335insLysAspLysAlaAsn) http://identifiers.org/clinvar/373818 ^@ NM_032634.3(PIGO):c.1352T>G (p.Met451Arg) http://identifiers.org/clinvar/373468 ^@ NM_213655.4(WNK1):c.2608C>A (p.Leu870Ile) http://identifiers.org/clinvar/373268 ^@ NM_000138.4(FBN1):c.6941A>G (p.Tyr2314Cys) http://identifiers.org/clinvar/373118 ^@ NM_000548.4(TSC2):c.4493+1G>A http://identifiers.org/clinvar/372968 ^@ NM_000152.4(GAA):c.1961C>A (p.Ser654Ter) http://identifiers.org/clinvar/373368 ^@ NM_001130823.2(DNMT1):c.3232G>A (p.Val1078Met) http://identifiers.org/clinvar/373518 ^@ NM_001199107.1(TBC1D24):c.1510G>A (p.Asp504Asn) http://identifiers.org/clinvar/373568 ^@ NM_000435.2(NOTCH3):c.3352A>T (p.Asn1118Tyr) http://identifiers.org/clinvar/373718 ^@ NM_172107.3(KCNQ2):c.2234C>T (p.Pro745Leu) http://identifiers.org/clinvar/373768 ^@ NM_003588.3(CUL4B):c.2691_2692delCT (p.Asp897Glufs) http://identifiers.org/clinvar/373318 ^@ NM_004992.3(MECP2):c.695G>A (p.Gly232Asp) http://identifiers.org/clinvar/373618 ^@ NM_004006.2(DMD):c.842G>C (p.Ser281Thr) http://identifiers.org/clinvar/373868 ^@ NG_005905.2:g.(154652_160848)_(172307_?)del http://identifiers.org/clinvar/373971 ^@ NM_000190.3(HMBS):c.958delG (p.Ala320Leufs) http://identifiers.org/clinvar/373921 ^@ NM_000044.4(AR):c.865G>T (p.Glu289Ter) http://identifiers.org/clinvar/374752 ^@ NM_001376.4(DYNC1H1):c.8416A>G (p.Ile2806Val) http://identifiers.org/clinvar/374812 ^@ NM_000141.4(FGFR2):c.869G>C (p.Trp290Ser) http://identifiers.org/clinvar/374862 ^@ NM_033068.2(ACPT):c.713C>T (p.Ser238Leu) http://identifiers.org/clinvar/374925 ^@ NM_015213.3(DENND5A):c.517_518delGA (p.Asp173Profs) http://identifiers.org/clinvar/375260 ^@ NM_005189.2(CBX2):c.264delC (p.Cys89Alafs) http://identifiers.org/clinvar/375312 ^@ NM_138393.2(REEP6):c.448delG (p.Ala150Profs) http://identifiers.org/clinvar/375365 ^@ NM_000520.5(HEXA):c.1454G>A (p.Trp485Ter) http://identifiers.org/clinvar/375420 ^@ NM_001453.2(FOXC1):c.100_109delGGGGGCGGCT (p.Gly34Thrfs) http://identifiers.org/clinvar/375485 ^@ NM_001003694.1(BRPF1):c.1363C>T (p.Arg455Ter) http://identifiers.org/clinvar/375539 ^@ NM_001242897.1(DEPDC5):c.1949_1951delCTGinsTCT (p.Ser650_Ala651delinsPheSer) http://identifiers.org/clinvar/375604 ^@ NM_002485.4(NBN):c.900_924del25 (p.Gly301LysfsTer5) http://identifiers.org/clinvar/375657 ^@ NM_000821.6(GGCX):c.2084+45G>C http://identifiers.org/clinvar/375748 ^@ NM_000558.4(HBA1):c.207C>A (p.Asn69Lys) http://identifiers.org/clinvar/375851 ^@ NM_174936.3(PCSK9):c.322C>T (p.Leu108Phe) http://identifiers.org/clinvar/375801 ^@ NM_000527.4(LDLR):c.783C>A (p.Cys261Ter) http://identifiers.org/clinvar/375904 ^@ NM_000222.2(KIT):c.1510T>C (p.Phe504Leu) http://identifiers.org/clinvar/382706 ^@ NM_000251.2(MSH2):c.1277-4T>C http://identifiers.org/clinvar/382806 ^@ NM_000090.3(COL3A1):c.334-13A>G http://identifiers.org/clinvar/378163 ^@ NM_000179.2(MSH6):c.504A>G (p.Ala168=) http://identifiers.org/clinvar/384208 ^@ NM_005006.6(NDUFS1):c.1668A>G (p.Thr556=) http://identifiers.org/clinvar/384709 ^@ NM_007208.3(MRPL3):c.102C>T (p.Ile34=) http://identifiers.org/clinvar/390497 ^@ NM_003494.3(DYSF):c.3442+14C>T http://identifiers.org/clinvar/379021 ^@ NM_000249.3(MLH1):c.228A>G (p.Val76=) http://identifiers.org/clinvar/380562 ^@ NM_007208.3(MRPL3):c.886T>C (p.Leu296=) http://identifiers.org/clinvar/387148 ^@ NM_020166.4(MCCC1):c.1732-9T>A http://identifiers.org/clinvar/391836 ^@ NM_020458.3(TTC7A):c.1016A>G (p.Lys339Arg) http://identifiers.org/clinvar/383106 ^@ NM_005051.2(QARS):c.969C>T (p.Ala323=) http://identifiers.org/clinvar/380813 ^@ NM_024582.4(FAT4):c.10571G>A (p.Gly3524Asp) http://identifiers.org/clinvar/378569 ^@ NM_016955.3(SEPSECS):c.388+3A>G http://identifiers.org/clinvar/391886 ^@ NM_005911.5(MAT2A):c.-48C>T http://identifiers.org/clinvar/378720 ^@ NM_006070.5(TFG):c.552G>A (p.Ala184=) http://identifiers.org/clinvar/380412 ^@ NM_001999.3(FBN2):c.2252A>C (p.Glu751Ala) http://identifiers.org/clinvar/383156 ^@ NM_001999.3(FBN2):c.8595C>T (p.Pro2865=) http://identifiers.org/clinvar/386198 ^@ NM_001999.3(FBN2):c.6297T>C (p.Thr2099=) http://identifiers.org/clinvar/383407 ^@ NM_021911.2(GABRB2):c.747A>T (p.Thr249=) http://identifiers.org/clinvar/391786 ^@ NM_033071.3(SYNE1):c.17568G>A (p.Pro5856=) http://identifiers.org/clinvar/387048 ^@ NM_002290.4(LAMA4):c.381A>G (p.Gln127=) http://identifiers.org/clinvar/392986 ^@ NM_020928.1(ZSWIM6):c.2380C>T (p.Arg794Trp) http://identifiers.org/clinvar/380061 ^@ NM_013391.3(DMGDH):c.1518-4T>A http://identifiers.org/clinvar/386448 ^@ NM_178014.3(TUBB):c.1200C>T (p.Gly400=) http://identifiers.org/clinvar/380161 ^@ NM_001167734.1(VARS2):c.2840G>A (p.Arg947Gln) http://identifiers.org/clinvar/384308 ^@ NM_001069.2(TUBB2A):c.731G>C (p.Gly244Ala) http://identifiers.org/clinvar/390447 ^@ NM_001148.4(ANK2):c.7893A>G (p.Ser2631=) http://identifiers.org/clinvar/380261 ^@ NM_005431.1(XRCC2):c.669C>T (p.Tyr223=) http://identifiers.org/clinvar/382606 ^@ NM_014141.5(CNTNAP2):c.849C>A (p.Arg283=) http://identifiers.org/clinvar/377961 ^@ NM_000238.3(KCNH2):c.3366G>A (p.Pro1122=) http://identifiers.org/clinvar/392486 ^@ NM_021110.3(COL14A1):c.676C>T (p.Arg226Ter) http://identifiers.org/clinvar/386648 ^@ NM_005431.1(XRCC2):c.357C>T (p.Tyr119=) http://identifiers.org/clinvar/390547 ^@ NM_000038.5(APC):c.7350A>G (p.Pro2450=) http://identifiers.org/clinvar/384008 ^@ NM_001182.4(ALDH7A1):c.1094-14T>G http://identifiers.org/clinvar/390097 ^@ NM_000722.3(CACNA2D1):c.1273-12T>C http://identifiers.org/clinvar/381264 ^@ NM_005431.1(XRCC2):c.-42G>T http://identifiers.org/clinvar/385209 ^@ NM_006096.3(NDRG1):c.973C>A (p.Arg325=) http://identifiers.org/clinvar/384509 ^@ NM_000181.3(GUSB):c.1066-3T>C http://identifiers.org/clinvar/384959 ^@ NM_000742.3(CHRNA2):c.1174C>T (p.Pro392Ser) http://identifiers.org/clinvar/392236 ^@ NM_000093.4(COL5A1):c.4123-10C>T http://identifiers.org/clinvar/390797 ^@ NM_000445.4(PLEC):c.11909C>A (p.Thr3970Asn) http://identifiers.org/clinvar/379221 ^@ NM_017890.4(VPS13B):c.4158-18C>T http://identifiers.org/clinvar/384859 ^@ NM_020822.2(KCNT1):c.1337+16C>T http://identifiers.org/clinvar/387298 ^@ NM_000445.4(PLEC):c.2164-19G>A http://identifiers.org/clinvar/392736 ^@ NM_003383.4(VLDLR):c.943+19T>C http://identifiers.org/clinvar/381664 ^@ NM_000155.3(GALT):c.982C>T (p.Arg328Cys) http://identifiers.org/clinvar/383206 ^@ NM_006393.2(NEBL):c.2619G>A (p.Ala873=) http://identifiers.org/clinvar/382906 ^@ NM_006059.3(LAMC3):c.368G>T (p.Arg123Leu) http://identifiers.org/clinvar/133287 ^@ NM_002633.2(PGM1):c.112A>T (p.Asn38Tyr) http://identifiers.org/clinvar/133353 ^@ NM_002485.4(NBN):c.321-2A>G http://identifiers.org/clinvar/133403 ^@ NM_003820.3(TNFRSF14):c.305-397T>A http://identifiers.org/clinvar/133453 ^@ NM_007313.2(ABL1):c.1475G>A (p.Arg492Gln) http://identifiers.org/clinvar/134351 ^@ NM_022725.3(FANCF):c.959C>T (p.Pro320Leu) http://identifiers.org/clinvar/134401 ^@ NM_000142.4(FGFR3):c.768G>T (p.Gln256His) http://identifiers.org/clinvar/134451 ^@ NM_004119.2(FLT3):c.970G>A (p.Asp324Asn) http://identifiers.org/clinvar/134501 ^@ NM_004484.3(GPC3):c.1285G>A (p.Val429Met) http://identifiers.org/clinvar/134551 ^@ NM_004972.3(JAK2):c.2011C>T (p.His671Tyr) http://identifiers.org/clinvar/134601 ^@ NM_001291415.1(KDM6A):c.660A>T (p.Lys220Asn) http://identifiers.org/clinvar/134652 ^@ NM_001127500.2(MET):c.1660G>A (p.Gly554Arg) http://identifiers.org/clinvar/134704 ^@ NM_003482.3(KMT2D):c.9418A>G (p.Lys3140Glu) http://identifiers.org/clinvar/134754 ^@ NM_170606.2(KMT2C):c.6022A>G (p.Thr2008Ala) http://identifiers.org/clinvar/134804 ^@ NM_170606.2(KMT2C):c.11528G>C (p.Gly3843Ala) http://identifiers.org/clinvar/134857 ^@ NM_001048171.1(MUTYH):c.794A>C (p.Asn265Thr) http://identifiers.org/clinvar/134908 ^@ NM_017617.4(NOTCH1):c.1754C>T (p.Ala585Val) http://identifiers.org/clinvar/134958 ^@ NM_017617.4(NOTCH1):c.608G>A (p.Arg203His) http://identifiers.org/clinvar/135008 ^@ NM_018313.4(PBRM1):c.4535C>T (p.Ala1512Val) http://identifiers.org/clinvar/135058 ^@ NM_000534.4(PMS1):c.1895A>G (p.Asn632Ser) http://identifiers.org/clinvar/135109 ^@ NM_000264.3(PTCH1):c.1247C>G (p.Thr416Ser) http://identifiers.org/clinvar/135161 ^@ NM_004260.3(RECQL4):c.274C= (p.Pro92=) http://identifiers.org/clinvar/135191 ^@ NM_020975.4(RET):c.1573C>T (p.Arg525Trp) http://identifiers.org/clinvar/135241 ^@ NM_014159.6(SETD2):c.4526G>A (p.Arg1509Lys) http://identifiers.org/clinvar/135292 ^@ NM_001127208.2(TET2):c.5167C>T (p.Pro1723Ser) http://identifiers.org/clinvar/135342 ^@ NM_006290.3(TNFAIP3):c.1232G>A (p.Arg411Gln) http://identifiers.org/clinvar/135393 ^@ NM_000369.2(TSHR):c.1928A>G (p.Tyr643Cys) http://identifiers.org/clinvar/135443 ^@ NM_000553.4(WRN):c.4216C>T (p.Arg1406Ter) http://identifiers.org/clinvar/135493 ^@ NM_003400.3(XPO1):c.1159T>C (p.Ser387Pro) http://identifiers.org/clinvar/135543 ^@ NM_000136.2(FANCC):c.166-2A>G http://identifiers.org/clinvar/135607 ^@ NM_002136.3(HNRNPA1):c.901A>G (p.Asn301Asp) http://identifiers.org/clinvar/135677 ^@ NM_000890.3(KCNJ5):c.739G>A (p.Gly247Arg) http://identifiers.org/clinvar/135729 ^@ NM_000038.5(APC):c.883A>G (p.Ser295Gly) http://identifiers.org/clinvar/135782 ^@ NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) http://identifiers.org/clinvar/135838 ^@ NM_000179.2(MSH6):c.3024C>T (p.Thr1008=) http://identifiers.org/clinvar/135888 ^@ NM_000264.3(PTCH1):c.3240C>T (p.Ala1080=) http://identifiers.org/clinvar/135938 ^@ NM_000535.6(PMS2):c.1467G>A (p.Glu489=) http://identifiers.org/clinvar/135990 ^@ NM_001128425.1(MUTYH):c.736G>T (p.Val246Phe) http://identifiers.org/clinvar/136303 ^@ NM_020247.4(COQ8A):c.1185C>T (p.Ile395=) http://identifiers.org/clinvar/136354 ^@ NM_000032.4(ALAS2):c.1167T>G (p.Leu389=) http://identifiers.org/clinvar/186443 ^@ NM_001042492.2(NF1):c.7513G>C (p.Ala2505Pro) http://identifiers.org/clinvar/187788 ^@ NM_030813.5(CLPB):c.961A>T (p.Lys321Ter) http://identifiers.org/clinvar/187867 ^@ NM_005957.4(MTHFR):c.137G>A (p.Arg46Gln) http://identifiers.org/clinvar/187917 ^@ NM_004409.4(DMPK):c.*224_*226[124] http://identifiers.org/clinvar/187967 ^@ NM_004409.4(DMPK):c.*224_*226[364] http://identifiers.org/clinvar/188017 ^@ NM_004409.4(DMPK):c.*224_*226[640] http://identifiers.org/clinvar/188274 ^@ NM_000251.2(MSH2):c.1442T>A (p.Leu481Ter) http://identifiers.org/clinvar/188118 ^@ NM_022912.2(REEP1):c.415A>T (p.Lys139Ter) http://identifiers.org/clinvar/188326 ^@ NM_015141.3(GPD1L):c.947G>C (p.Gly316Ala) http://identifiers.org/clinvar/188169 ^@ NM_000249.3(MLH1):c.286A>G (p.Thr96Ala) http://identifiers.org/clinvar/188067 ^@ NM_020975.4(RET):c.548G>A (p.Gly183Asp) http://identifiers.org/clinvar/188380 ^@ NM_000059.3(BRCA2):c.517-?_631+?del http://identifiers.org/clinvar/188220 ^@ NM_000267.3(NF1):c.4277A>G (p.Gln1426Arg) http://identifiers.org/clinvar/188687 ^@ NM_001001430.2(TNNT2):c.580-45_580-20delins275 http://identifiers.org/clinvar/188587 ^@ NM_000256.3(MYBPC3):c.3627+12delT http://identifiers.org/clinvar/188537 ^@ NM_000256.3(MYBPC3):c.852-10C>G http://identifiers.org/clinvar/188487 ^@ NM_004004.5(GJB2):c.208C>G (p.Pro70Ala) http://identifiers.org/clinvar/188437 ^@ NM_000059.3(BRCA2):c.7340dupA (p.Asn2447Lysfs) http://identifiers.org/clinvar/188637 ^@ NM_000257.3(MYH7):c.4644+24G>T http://identifiers.org/clinvar/188737 ^@ NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) http://identifiers.org/clinvar/188787 ^@ NM_000071.2(CBS):c.346G>A (p.Gly116Arg) http://identifiers.org/clinvar/189718 ^@ NM_004992.3(MECP2):c.764_765ins8 http://identifiers.org/clinvar/189768 ^@ NM_001110792.1(MECP2):c.42_47dupAGGAGG (p.Gly16_Glu17insGlyGly) http://identifiers.org/clinvar/189902 ^@ NM_001165963.1(SCN1A):c.3705+1G>A http://identifiers.org/clinvar/189852 ^@ NM_001165963.1(SCN1A):c.2044_6030del http://identifiers.org/clinvar/190319 ^@ NM_153816.5(SNX14):c.428T>A (p.Leu143Ter) http://identifiers.org/clinvar/190374 ^@ NM_019105.6(TNXB):c.12174C>G (p.Cys4058Trp) http://identifiers.org/clinvar/190461 ^@ NM_001164616.1(FZD6):c.773A>G (p.Tyr258Cys) http://identifiers.org/clinvar/228344 ^@ NM_172058.3(EYA1):c.(?_1598)-56_*(1968_?)del http://identifiers.org/clinvar/227894 ^@ NM_001134363.2(RBM20):c.409C>T (p.Leu137=) http://identifiers.org/clinvar/228494 ^@ NM_022124.5(CDH23):c.4207-8G>T http://identifiers.org/clinvar/227944 ^@ NM_005411.4(SFTPA1):c.26A>C (p.Asn9Thr) http://identifiers.org/clinvar/227994 ^@ NM_005422.2(TECTA):c.2418G>A (p.Leu806=) http://identifiers.org/clinvar/228194 ^@ NM_153676.3(USH1C):c.2124T>C (p.Ser708=) http://identifiers.org/clinvar/226861 ^@ NM_001277269.1(OTOG):c.1194G>A (p.Ala398=) http://identifiers.org/clinvar/227793 ^@ NM_001277269.1(OTOG):c.7497C>T (p.Cys2499=) http://identifiers.org/clinvar/226661 ^@ NM_181507.1(HPS5):c.1635-4C>G http://identifiers.org/clinvar/227463 ^@ NM_000218.2(KCNQ1):c.531C>T (p.Ser177=) http://identifiers.org/clinvar/227162 ^@ NM_005691.3(ABCC9):c.406+14C>G http://identifiers.org/clinvar/228394 ^@ NM_014363.5(SACS):c.8542_8543delTT (p.Phe2848Profs) http://identifiers.org/clinvar/227593 ^@ NM_002471.3(MYH6):c.736-9C>T http://identifiers.org/clinvar/227363 ^@ NM_004452.3(ESRRB):c.1057+15G>A http://identifiers.org/clinvar/227313 ^@ NM_178452.5(DNAAF1):c.1988C>T (p.Pro663Leu) http://identifiers.org/clinvar/227643 ^@ NM_016239.3(MYO15A):c.5100C>T (p.Thr1700=) http://identifiers.org/clinvar/227743 ^@ NM_001042492.2(NF1):c.4752C>T (p.Phe1584=) http://identifiers.org/clinvar/226811 ^@ NM_003803.3(MYOM1):c.2210-4T>G http://identifiers.org/clinvar/227693 ^@ NM_003803.3(MYOM1):c.1952G>A (p.Arg651Gln) http://identifiers.org/clinvar/227513 ^@ NM_144612.6(LOXHD1):c.2580G>A (p.Ala860=) http://identifiers.org/clinvar/226711 ^@ NM_144612.6(LOXHD1):c.1053G>A (p.Leu351=) http://identifiers.org/clinvar/228294 ^@ NM_001039876.2(SYNE4):c.699G>A (p.Trp233Ter) http://identifiers.org/clinvar/229333 ^@ NM_000363.4(TNNI3):c.583A>C (p.Ile195Leu) http://identifiers.org/clinvar/228244 ^@ NM_000022.3(ADA):c.704G>A (p.Arg235Gln) http://identifiers.org/clinvar/228044 ^@ NM_001039141.2(TRIOBP):c.96C>T (p.Ala32=) http://identifiers.org/clinvar/228444 ^@ NM_001692.3(ATP6V1B1):c.1287G>A (p.Met429Ile) http://identifiers.org/clinvar/234298 ^@ NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg) http://identifiers.org/clinvar/234350 ^@ NM_000243.2(MEFV):c.365A>G (p.Asp122Gly) http://identifiers.org/clinvar/234420 ^@ NM_000455.4(STK11):c.1175T>C (p.Met392Thr) http://identifiers.org/clinvar/233585 ^@ NM_001128425.1(MUTYH):c.366C>T (p.Asp122=) http://identifiers.org/clinvar/229785 ^@ NM_000465.3(BARD1):c.2138T>G (p.Val713Gly) http://identifiers.org/clinvar/233988 ^@ NM_000465.3(BARD1):c.1235C>T (p.Ser412Leu) http://identifiers.org/clinvar/229935 ^@ NM_000465.3(BARD1):c.26_40dupACCGGCAGCCGAGGA (p.Arg13_Ile14insAsnArgGlnProArg) http://identifiers.org/clinvar/233385 ^@ NM_000251.2(MSH2):c.76A>C (p.Met26Leu) http://identifiers.org/clinvar/233888 ^@ NM_000251.2(MSH2):c.2030C>G (p.Thr677Arg) http://identifiers.org/clinvar/229885 ^@ NM_000251.2(MSH2):c.2099C>A (p.Ala700Glu) http://identifiers.org/clinvar/234188 ^@ NM_000179.2(MSH6):c.358A>G (p.Ile120Val) http://identifiers.org/clinvar/233685 ^@ NM_000249.3(MLH1):c.729T>C (p.Asn243=) http://identifiers.org/clinvar/265657 ^@ NM_001165963.1(SCN1A):c.3857G>A (p.Trp1286Ter) http://identifiers.org/clinvar/265707 ^@ NM_177924.4(ASAH1):c.77C>A (p.Pro26Gln) http://identifiers.org/clinvar/265556 ^@ NM_000051.3(ATM):c.8325delC (p.Ile2776Leufs) http://identifiers.org/clinvar/265607 ^@ NM_006941.3(SOX10):c.425G>A (p.Trp142Ter) http://identifiers.org/clinvar/265796 ^@ NC_000023.10:g.152767424_152787984del20561 http://identifiers.org/clinvar/265946 ^@ NM_174936.3(PCSK9):c.1681+50T>C http://identifiers.org/clinvar/265896 ^@ NM_000384.2(APOB):c.13480_13482delCAG (p.Gln4494del) http://identifiers.org/clinvar/266001 ^@ NM_000495.4(COL4A5):c.4882_4885delCCCT (p.Pro1628Serfs) http://identifiers.org/clinvar/266078 ^@ NM_152766.3(TMEM256):c.244_265del22 (p.Phe82Glufs) http://identifiers.org/clinvar/266128 ^@ NM_001273.3(CHD4):c.3443G>T (p.Trp1148Leu) http://identifiers.org/clinvar/266828 ^@ NM_000059.3(BRCA2):c.471_472insA (p.Ser158Ilefs) http://identifiers.org/clinvar/266628 ^@ NM_000059.3(BRCA2):c.1318_1319dupCT (p.Thr441Leufs) http://identifiers.org/clinvar/266678 ^@ NM_000059.3(BRCA2):c.2129C>G (p.Ser710Ter) http://identifiers.org/clinvar/266728 ^@ NM_000059.3(BRCA2):c.2954_2957delAAAA (p.Lys985Ilefs) http://identifiers.org/clinvar/266778 ^@ NM_000059.3(BRCA2):c.3866_3869delAATG (p.Lys1289Thrfs) http://identifiers.org/clinvar/266878 ^@ NM_000059.3(BRCA2):c.5472_5473insA (p.Ala1825Serfs) http://identifiers.org/clinvar/266928 ^@ NM_000059.3(BRCA2):c.6155C>G (p.Ser2052Ter) http://identifiers.org/clinvar/266528 ^@ NM_007294.3(BRCA1):c.5161_5165delCAGTC (p.Gln1721Tyrfs) http://identifiers.org/clinvar/266478 ^@ NM_007294.3(BRCA1):c.4503C>A (p.Cys1501Ter) http://identifiers.org/clinvar/266378 ^@ NM_007294.3(BRCA1):c.3498delT (p.Glu1167Lysfs) http://identifiers.org/clinvar/266328 ^@ NM_007294.3(BRCA1):c.3010G>T (p.Glu1004Ter) http://identifiers.org/clinvar/266278 ^@ NM_007294.3(BRCA1):c.2542_2545delGAAG (p.Glu848Lysfs) http://identifiers.org/clinvar/266228 ^@ NM_007294.3(BRCA1):c.2157_2160delAGAA (p.Lys719Asnfs) http://identifiers.org/clinvar/266178 ^@ NM_007294.3(BRCA1):c.1642_1643delAT (p.Ile548Tyrfs) http://identifiers.org/clinvar/266578 ^@ NM_007294.3(BRCA1):c.784delC (p.Gln262Argfs) http://identifiers.org/clinvar/266428 ^@ NM_007294.3(BRCA1):c.40_41delGT (p.Val14Hisfs) http://identifiers.org/clinvar/268055 ^@ NM_021942.5(TRAPPC11):c.1893+3A>G http://identifiers.org/clinvar/290907 ^@ NM_000784.3(CYP27A1):c.1311C>T (p.Ala437=) http://identifiers.org/clinvar/290957 ^@ NM_175073.2(APTX):c.989C>A (p.Pro330His) http://identifiers.org/clinvar/291007 ^@ NM_198525.2(KIF7):c.3451C>T (p.Arg1151Cys) http://identifiers.org/clinvar/291057 ^@ NM_001458.4(FLNC):c.2459A>T (p.Asp820Val) http://identifiers.org/clinvar/291107 ^@ NM_007171.3(POMT1):c.151A>T (p.Ile51Phe) http://identifiers.org/clinvar/291157 ^@ NM_015102.4(NPHP4):c.4034G>A (p.Gly1345Asp) http://identifiers.org/clinvar/291208 ^@ NM_001165928.3(DAG1):c.1307C>T (p.Thr436Met) http://identifiers.org/clinvar/291258 ^@ NM_182961.3(SYNE1):c.5409T>C (p.Leu1803=) http://identifiers.org/clinvar/291373 ^@ NM_001918.3(DBT):c.*9153_*9156delCCAC http://identifiers.org/clinvar/291423 ^@ NM_001918.3(DBT):c.*3336_*3338dupAAG http://identifiers.org/clinvar/291473 ^@ NM_001854.3(COL11A1):c.*1488G>C http://identifiers.org/clinvar/291523 ^@ NM_001854.3(COL11A1):c.3033A>C (p.Pro1011=) http://identifiers.org/clinvar/291573 ^@ NM_015074.3(KIF1B):c.3587G>T (p.Ser1196Ile) http://identifiers.org/clinvar/291865 ^@ NM_003051.3(SLC16A1):c.527G>A (p.Gly176Glu) http://identifiers.org/clinvar/291615 ^@ NM_015074.3(KIF1B):c.*2012C>T http://identifiers.org/clinvar/291715 ^@ NM_013296.4(GPSM2):c.*476dupT http://identifiers.org/clinvar/291665 ^@ NM_015074.3(KIF1B):c.*4621C>T http://identifiers.org/clinvar/291765 ^@ NM_007375.3(TARDBP):c.*2334G>A http://identifiers.org/clinvar/292215 ^@ NM_005957.4(MTHFR):c.*817G>A http://identifiers.org/clinvar/292265 ^@ NM_000198.3(HSD3B2):c.777G>A (p.Thr259=) http://identifiers.org/clinvar/291815 ^@ NM_013319.2(UBIAD1):c.-311C>T http://identifiers.org/clinvar/292315 ^@ NM_006623.3(PHGDH):c.834C>A (p.Val278=) http://identifiers.org/clinvar/292365 ^@ NM_014874.3(MFN2):c.-287C>T http://identifiers.org/clinvar/292065 ^@ NM_138959.2(VANGL1):c.*3407dupT http://identifiers.org/clinvar/292115 ^@ NM_001232.3(CASQ2):c.*1123_*1124delAT http://identifiers.org/clinvar/291915 ^@ NM_003051.3(SLC16A1):c.-226G>A http://identifiers.org/clinvar/292565 ^@ NM_019032.5(ADAMTSL4):c.3029_3031delCTC (p.Pro1010del) http://identifiers.org/clinvar/292615 ^@ NM_000449.3(RFX5):c.938C>T (p.Ser313Leu) http://identifiers.org/clinvar/291965 ^@ NM_002524.4(NRAS):c.*1062_*1063delTT http://identifiers.org/clinvar/292015 ^@ NM_138959.2(VANGL1):c.*83T>A http://identifiers.org/clinvar/292415 ^@ NM_213653.3(HFE2):c.-248delC http://identifiers.org/clinvar/292515 ^@ NM_019032.5(ADAMTSL4):c.87C>T (p.Ser29=) http://identifiers.org/clinvar/292165 ^@ NM_005957.4(MTHFR):c.*4070_*4077delAAAAAAAA http://identifiers.org/clinvar/292865 ^@ NM_022367.3(SEMA4A):c.*366G>A http://identifiers.org/clinvar/292915 ^@ NM_007272.2(CTRC):c.736C>T (p.Arg246Cys) http://identifiers.org/clinvar/292465 ^@ NM_005267.4(GJA8):c.300C>T (p.Val100=) http://identifiers.org/clinvar/292665 ^@ NM_152263.3(TPM3):c.*2211A>C http://identifiers.org/clinvar/293654 ^@ NM_152281.2(GORAB):c.357C>G (p.Pro119=) http://identifiers.org/clinvar/292815 ^@ NM_000298.5(PKLR):c.391_393delATC (p.Ile131del) http://identifiers.org/clinvar/293704 ^@ NM_000261.1(MYOC):c.*241A>G http://identifiers.org/clinvar/292715 ^@ NM_001111.4(ADAR):c.*2199C>T http://identifiers.org/clinvar/292765 ^@ NM_001111.4(ADAR):c.2669-9C>T http://identifiers.org/clinvar/293904 ^@ NM_002065.6(GLUL):c.*1790C>T http://identifiers.org/clinvar/294054 ^@ NM_005562.2(LAMC2):c.*1456T>C http://identifiers.org/clinvar/293954 ^@ NM_002065.6(GLUL):c.-238G>A http://identifiers.org/clinvar/294104 ^@ NM_031935.2(HMCN1):c.1021+8T>C http://identifiers.org/clinvar/294154 ^@ NM_031935.2(HMCN1):c.4828G>A (p.Val1610Ile) http://identifiers.org/clinvar/294204 ^@ NM_031935.2(HMCN1):c.8975C>T (p.Pro2992Leu) http://identifiers.org/clinvar/294304 ^@ NM_031935.2(HMCN1):c.16295-9C>T http://identifiers.org/clinvar/294354 ^@ NM_003748.3(ALDH4A1):c.*272C>T http://identifiers.org/clinvar/294404 ^@ NM_024529.4(CDC73):c.-190G>C http://identifiers.org/clinvar/294554 ^@ NM_030787.3(CFHR5):c.*324T>C http://identifiers.org/clinvar/293554 ^@ NM_000130.4(F5):c.*1115C>T http://identifiers.org/clinvar/293604 ^@ NM_000130.4(F5):c.3801T>C (p.Leu1267=) http://identifiers.org/clinvar/293804 ^@ NM_022089.3(ATP13A2):c.106-14C>T http://identifiers.org/clinvar/294854 ^@ NM_001005337.2(PKP1):c.*731G>A http://identifiers.org/clinvar/294804 ^@ NM_001005337.2(PKP1):c.347G>A (p.Arg116His) http://identifiers.org/clinvar/293754 ^@ NM_000639.2(FASLG):c.*612T>A http://identifiers.org/clinvar/293854 ^@ NM_033343.3(LHX4):c.-134G>C http://identifiers.org/clinvar/336577 ^@ NM_001135659.2(NRXN1):c.-1039C>T http://identifiers.org/clinvar/343896 ^@ NM_005677.3(COLQ):c.-120_-119insGCAC http://identifiers.org/clinvar/345185 ^@ NM_018075.4(ANO10):c.1294-3delT http://identifiers.org/clinvar/336727 ^@ NM_032180.2(FAM161A):c.*300T>C http://identifiers.org/clinvar/345585 ^@ NM_000316.2(PTH1R):c.357G>A (p.Pro119=) http://identifiers.org/clinvar/345735 ^@ NM_002222.5(ITPR1):c.4182G>T (p.Val1394=) http://identifiers.org/clinvar/344835 ^@ NM_006371.4(CRTAP):c.*1315C>T http://identifiers.org/clinvar/337416 ^@ NM_004836.6(EIF2AK3):c.1173T>C (p.Tyr391=) http://identifiers.org/clinvar/345985 ^@ NM_002292.3(LAMB2):c.3644C>G (p.Ala1215Gly) http://identifiers.org/clinvar/346035 ^@ NM_000481.3(AMT):c.195C>T (p.His65=) http://identifiers.org/clinvar/345235 ^@ NM_016006.4(ABHD5):c.*1110G>C http://identifiers.org/clinvar/337516 ^@ NM_014014.4(SNRNP200):c.*337G>A http://identifiers.org/clinvar/337566 ^@ NM_014014.4(SNRNP200):c.390T>C (p.Asp130=) http://identifiers.org/clinvar/345385 ^@ NM_020208.3(SLC6A20):c.*654C>T http://identifiers.org/clinvar/345485 ^@ NM_024513.3(FYCO1):c.*466C>T http://identifiers.org/clinvar/342346 ^@ NM_016247.3(IMPG2):c.2093C>T (p.Ala698Val) http://identifiers.org/clinvar/342396 ^@ NM_000551.3(VHL):c.-207C>T http://identifiers.org/clinvar/345685 ^@ NM_002222.5(ITPR1):c.1452C>T (p.Phe484=) http://identifiers.org/clinvar/345635 ^@ NM_015175.2(NBEAL2):c.2219C>A (p.Thr740Lys) http://identifiers.org/clinvar/345885 ^@ NM_000094.3(COL7A1):c.630C>T (p.Leu210=) http://identifiers.org/clinvar/346085 ^@ NM_153281.1(HYAL1):c.846G>A (p.Pro282=) http://identifiers.org/clinvar/342846 ^@ NM_053025.3(MYLK):c.*764_*765dupAA http://identifiers.org/clinvar/342996 ^@ NM_000373.3(UMPS):c.*3130C>T http://identifiers.org/clinvar/343046 ^@ NM_000373.3(UMPS):c.*5133delT http://identifiers.org/clinvar/342896 ^@ NM_053025.3(MYLK):c.1630C>T (p.Arg544Trp) http://identifiers.org/clinvar/343196 ^@ NM_014049.4(ACAD9):c.1069G>A (p.Glu357Lys) http://identifiers.org/clinvar/343096 ^@ NM_002880.3(RAF1):c.*556G>A http://identifiers.org/clinvar/343246 ^@ NM_052985.3(IFT122):c.2037A>T (p.Lys679Asn) http://identifiers.org/clinvar/343146 ^@ NM_032638.4(GATA2):c.-193C>T http://identifiers.org/clinvar/343346 ^@ NM_014382.3(ATP2C1):c.*1255G>A http://identifiers.org/clinvar/343396 ^@ NM_153240.4(NPHP3):c.-70C>T http://identifiers.org/clinvar/343446 ^@ NM_001063.3(TF):c.1614C>T (p.Gly538=) http://identifiers.org/clinvar/343646 ^@ NM_000935.2(PLOD2):c.1595A>G (p.Gln532Arg) http://identifiers.org/clinvar/343596 ^@ NM_001184.3(ATR):c.6078+10T>C http://identifiers.org/clinvar/353912 ^@ NM_001104631.1(PDE4D):c.*5190A>G http://identifiers.org/clinvar/361950 ^@ NM_003235.4(TG):c.3804C>T (p.Ser1268=) http://identifiers.org/clinvar/353612 ^@ NM_002310.5(LIFR):c.2728G>T (p.Val910Phe) http://identifiers.org/clinvar/358241 ^@ NM_020320.4(RARS2):c.-13C>T http://identifiers.org/clinvar/354112 ^@ NM_022132.4(MCCC2):c.*593G>T http://identifiers.org/clinvar/353762 ^@ NM_002203.3(ITGA2):c.2241C>T (p.Pro747=) http://identifiers.org/clinvar/362150 ^@ NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) http://identifiers.org/clinvar/353962 ^@ NM_001104631.1(PDE4D):c.*1446T>C http://identifiers.org/clinvar/354262 ^@ NM_000046.3(ARSB):c.*2975G>T http://identifiers.org/clinvar/354162 ^@ NM_003719.3(PDE8B):c.1366-5G>A http://identifiers.org/clinvar/362600 ^@ NM_006129.4(BMP1):c.2594G>A (p.Arg865Gln) http://identifiers.org/clinvar/355102 ^@ NM_000493.3(COL10A1):c.633A>G (p.Thr211=) http://identifiers.org/clinvar/355152 ^@ NM_002667.4(PLN):c.*1225C>T http://identifiers.org/clinvar/355402 ^@ NM_006208.2(ENPP1):c.*2130C>T http://identifiers.org/clinvar/355202 ^@ NM_006073.3(TRDN):c.*634G>A http://identifiers.org/clinvar/363789 ^@ NM_000318.2(PEX2):c.*1755A>G http://identifiers.org/clinvar/363889 ^@ NM_019098.4(CNGB3):c.-32T>C http://identifiers.org/clinvar/355552 ^@ NM_000416.2(IFNGR1):c.1400T>C (p.Leu467Pro) http://identifiers.org/clinvar/363939 ^@ NM_018444.3(PDP1):c.-142G>C http://identifiers.org/clinvar/363989 ^@ NM_177965.3(C8orf37):c.*1687T>A http://identifiers.org/clinvar/361040 ^@ NM_017890.4(VPS13B):c.1108G>C (p.Asp370His) http://identifiers.org/clinvar/364339 ^@ NM_005502.3(ABCA1):c.*1911C>T http://identifiers.org/clinvar/355702 ^@ NM_203395.2(IYD):c.*756A>G http://identifiers.org/clinvar/356002 ^@ NM_004562.2(PRKN):c.*1028_*1029delTC http://identifiers.org/clinvar/356052 ^@ NM_003730.4(RNASET2):c.-322T>C http://identifiers.org/clinvar/355802 ^@ NM_033071.3(SYNE1):c.*191A>G http://identifiers.org/clinvar/356102 ^@ NM_000367.4(TPMT):c.*899_*902delAATC http://identifiers.org/clinvar/364889 ^@ NM_002316.3(LMX1B):c.1131C>T (p.Arg377=) http://identifiers.org/clinvar/355852 ^@ NM_033071.3(SYNE1):c.17654G>A (p.Arg5885His) http://identifiers.org/clinvar/356302 ^@ NM_006929.4(SKIV2L):c.-269T>C http://identifiers.org/clinvar/360890 ^@ NM_194456.1(KRIT1):c.77G>A (p.Arg26Gln) http://identifiers.org/clinvar/356702 ^@ NM_002098.5(GUCA1B):c.*1203T>C http://identifiers.org/clinvar/361390 ^@ NM_178857.5(RP1L1):c.940C>T (p.Arg314Cys) http://identifiers.org/clinvar/356852 ^@ NM_014780.4(CUL7):c.1027C>T (p.Pro343Ser) http://identifiers.org/clinvar/365778 ^@ NM_000093.4(COL5A1):c.*1787G>A http://identifiers.org/clinvar/366129 ^@ NM_144966.5(FREM1):c.3819T>A (p.Asp1273Glu) http://identifiers.org/clinvar/361800 ^@ NM_004519.3(KCNQ3):c.*4949G>T http://identifiers.org/clinvar/367229 ^@ NM_004817.3(TJP2):c.2880+11G>T http://identifiers.org/clinvar/366729 ^@ NM_004629.1(FANCG):c.*101A>G http://identifiers.org/clinvar/367558 ^@ NM_000507.3(FBP1):c.102G>C (p.Leu34=) http://identifiers.org/clinvar/367458 ^@ NM_058179.3(PSAT1):c.821A>C (p.Lys274Thr) http://identifiers.org/clinvar/304220 ^@ NM_000218.2(KCNQ1):c.1251+13C>T http://identifiers.org/clinvar/312479 ^@ NM_052910.2(SLITRK1):c.*1882A>T http://identifiers.org/clinvar/312679 ^@ NM_022489.3(INF2):c.885G>A (p.Leu295=) http://identifiers.org/clinvar/304370 ^@ NM_024426.4(WT1):c.*1239T>A http://identifiers.org/clinvar/364139 ^@ NM_004612.3(TGFBR1):c.*2103_*2104insG http://identifiers.org/clinvar/304720 ^@ NM_018389.4(SLC35C1):c.-665C>T http://identifiers.org/clinvar/304820 ^@ NM_000506.4(F2):c.1621C>A (p.Arg541=) http://identifiers.org/clinvar/313668 ^@ NM_182914.2(SYNE2):c.20536C>T (p.Pro6846Ser) http://identifiers.org/clinvar/305122 ^@ NM_004183.3(BEST1):c.813C>T (p.Leu271=) http://identifiers.org/clinvar/305322 ^@ NM_032193.3(RNASEH2C):c.*2036C>T http://identifiers.org/clinvar/314318 ^@ NM_000428.2(LTBP2):c.249G>A (p.Gln83=) http://identifiers.org/clinvar/300092 ^@ NM_000124.3(ERCC6):c.858G>C (p.Lys286Asn) http://identifiers.org/clinvar/300142 ^@ NM_000242.2(MBL2):c.*447G>C http://identifiers.org/clinvar/300192 ^@ NM_033056.3(PCDH15):c.1900G>A (p.Val634Ile) http://identifiers.org/clinvar/300492 ^@ NM_022124.5(CDH23):c.*434G>A http://identifiers.org/clinvar/306386 ^@ NM_012193.3(FZD4):c.*1121G>C http://identifiers.org/clinvar/300242 ^@ NM_000417.2(IL2RA):c.*444T>A http://identifiers.org/clinvar/329380 ^@ NM_001022.3(RPS19):c.-288A>C http://identifiers.org/clinvar/329680 ^@ NM_025136.3(OPA3):c.*302C>T http://identifiers.org/clinvar/318099 ^@ NM_001143979.1(NDE1):c.948-5858G>A http://identifiers.org/clinvar/329830 ^@ NM_002103.4(GYS1):c.222G>A (p.Arg74=) http://identifiers.org/clinvar/329880 ^@ NM_030973.3(MED25):c.1038G>T (p.Leu346=) http://identifiers.org/clinvar/318249 ^@ NM_004970.2(IGFALS):c.872G>A (p.Gly291Asp) http://identifiers.org/clinvar/318549 ^@ NM_001083614.1(EARS2):c.959-15C>T http://identifiers.org/clinvar/330280 ^@ NM_000064.3(C3):c.4631-9C>T http://identifiers.org/clinvar/318699 ^@ NM_020705.2(TBC1D24):c.*3959G>A http://identifiers.org/clinvar/330330 ^@ NM_000064.3(C3):c.1119+14C>T http://identifiers.org/clinvar/330430 ^@ NM_000208.3(INSR):c.*349_*355dupTTTTTTT http://identifiers.org/clinvar/318849 ^@ NM_006662.2(SRCAP):c.-128C>T http://identifiers.org/clinvar/318899 ^@ NM_006662.2(SRCAP):c.8021C>T (p.Ser2674Leu) http://identifiers.org/clinvar/337766 ^@ NM_000214.2(JAG1):c.-129C>T http://identifiers.org/clinvar/337866 ^@ NM_000361.2(THBD):c.*663C>T http://identifiers.org/clinvar/338066 ^@ NM_015338.5(ASXL1):c.-221C>T http://identifiers.org/clinvar/338216 ^@ NM_003098.2(SNTA1):c.993C>T (p.Arg331=) http://identifiers.org/clinvar/338266 ^@ NM_000687.3(AHCY):c.*621T>C http://identifiers.org/clinvar/338516 ^@ NM_000308.3(CTSA):c.-238delC http://identifiers.org/clinvar/338566 ^@ NM_001250.5(CD40):c.-61G>T http://identifiers.org/clinvar/338716 ^@ NM_006420.2(ARFGEF2):c.*503G>A http://identifiers.org/clinvar/313468 ^@ NM_005982.3(SIX1):c.-84C>G http://identifiers.org/clinvar/320939 ^@ NM_001127464.2(ZNF469):c.5078G>T (p.Cys1693Phe) http://identifiers.org/clinvar/313768 ^@ NM_000347.5(SPTB):c.1328G>A (p.Arg443His) http://identifiers.org/clinvar/313818 ^@ NM_002382.4(MAX):c.37-15dupT http://identifiers.org/clinvar/321439 ^@ NM_002386.3(MC1R):c.729C>T (p.Leu243=) http://identifiers.org/clinvar/321489 ^@ NM_000833.4(GRIN2A):c.*7207G>A http://identifiers.org/clinvar/314068 ^@ NM_031427.3(DNAL1):c.*2870C>T http://identifiers.org/clinvar/340306 ^@ NM_001848.2(COL6A1):c.-65C>G http://identifiers.org/clinvar/312529 ^@ NM_005708.4(GPC6):c.-623G>A http://identifiers.org/clinvar/312579 ^@ NM_005708.4(GPC6):c.*1439T>C http://identifiers.org/clinvar/326941 ^@ NM_001080467.2(MYO5B):c.*2672C>T http://identifiers.org/clinvar/327191 ^@ NM_005359.5(SMAD4):c.*5570_*5577dupCACACACA http://identifiers.org/clinvar/327341 ^@ NM_000140.3(FECH):c.*4368G>A http://identifiers.org/clinvar/368397 ^@ NM_007137.3(ZNF81):c.1923C>T (p.Ser641=) http://identifiers.org/clinvar/329180 ^@ NM_033064.4(ATCAY):c.*1409T>C http://identifiers.org/clinvar/329230 ^@ NM_016941.3(DLL3):c.-12dupC http://identifiers.org/clinvar/327491 ^@ NM_005603.4(ATP8B1):c.782-5A>T http://identifiers.org/clinvar/329330 ^@ NM_003573.2(LTBP4):c.*20G>A http://identifiers.org/clinvar/327591 ^@ NM_133459.3(CCBE1):c.*4749C>T http://identifiers.org/clinvar/368597 ^@ NM_000032.4(ALAS2):c.741C>T (p.His247=) http://identifiers.org/clinvar/327691 ^@ NM_133459.3(CCBE1):c.*378G>A http://identifiers.org/clinvar/329530 ^@ NM_000400.3(ERCC2):c.147A>G (p.Thr49=) http://identifiers.org/clinvar/329580 ^@ NM_025136.3(OPA3):c.*5774G>T http://identifiers.org/clinvar/329630 ^@ NM_025136.3(OPA3):c.*3117C>T http://identifiers.org/clinvar/329730 ^@ NM_000554.5(CRX):c.*966G>C http://identifiers.org/clinvar/329780 ^@ NM_000554.5(CRX):c.*3238G>A http://identifiers.org/clinvar/337716 ^@ NM_000214.2(JAG1):c.*1533_*1534delTG http://identifiers.org/clinvar/338016 ^@ NM_006899.4(IDH3B):c.1014T>C (p.Leu338=) http://identifiers.org/clinvar/338316 ^@ NM_000557.4(GDF5):c.1128G>T (p.Gln376His) http://identifiers.org/clinvar/338767 ^@ NM_020436.4(SALL4):c.2462-13C>T http://identifiers.org/clinvar/329930 ^@ NM_024729.3(MYH14):c.3304C>T (p.Leu1102=) http://identifiers.org/clinvar/330080 ^@ NM_002739.4(PRKCG):c.*428C>G http://identifiers.org/clinvar/330130 ^@ NM_024075.4(TSEN34):c.687G>A (p.Glu229=) http://identifiers.org/clinvar/330380 ^@ NM_000208.3(INSR):c.*2779G>A http://identifiers.org/clinvar/337816 ^@ NM_024411.4(PDYN):c.*847T>C http://identifiers.org/clinvar/340206 ^@ NM_130445.3(COL18A1):c.799-3C>G http://identifiers.org/clinvar/340256 ^@ NM_130445.3(COL18A1):c.2787C>T (p.Gly929=) http://identifiers.org/clinvar/338116 ^@ NM_015338.5(ASXL1):c.3965C>G (p.Pro1322Arg) http://identifiers.org/clinvar/338166 ^@ NM_006892.3(DNMT3B):c.1297+10T>C http://identifiers.org/clinvar/338416 ^@ NM_005461.4(MAFB):c.-171C>A http://identifiers.org/clinvar/340506 ^@ NM_006031.5(PCNT):c.5726C>T (p.Pro1909Leu) http://identifiers.org/clinvar/338466 ^@ NM_000457.4(HNF4A):c.*2167T>G http://identifiers.org/clinvar/340607 ^@ NM_014339.6(IL17RA):c.2086C>A (p.Leu696Met) http://identifiers.org/clinvar/340807 ^@ NM_017929.5(PEX26):c.*2281T>C http://identifiers.org/clinvar/340957 ^@ NM_004076.4(CRYBB3):c.584G>A (p.Arg195His) http://identifiers.org/clinvar/341257 ^@ NM_000343.3(SLC5A1):c.1666-5T>C http://identifiers.org/clinvar/341407 ^@ NM_000362.4(TIMP3):c.*3345_*3346delAG http://identifiers.org/clinvar/392536 ^@ NM_017617.4(NOTCH1):c.1440C>T (p.Pro480=) http://identifiers.org/clinvar/381214 ^@ NM_007078.2(LDB3):c.900C>A (p.Thr300=) http://identifiers.org/clinvar/384358 ^@ NM_203447.3(DOCK8):c.2971-6C>T http://identifiers.org/clinvar/381114 ^@ NM_004329.2(BMPR1A):c.1347C>T (p.Ile449=) http://identifiers.org/clinvar/389947 ^@ NM_002860.3(ALDH18A1):c.945C>T (p.Ala315=) http://identifiers.org/clinvar/379911 ^@ NM_000136.2(FANCC):c.1073-20G>A http://identifiers.org/clinvar/390747 ^@ NM_017617.4(NOTCH1):c.5805C>T (p.Ala1935=) http://identifiers.org/clinvar/384408 ^@ NM_007327.3(GRIN1):c.1632+14G>A http://identifiers.org/clinvar/378011 ^@ NM_000218.2(KCNQ1):c.386+14C>T http://identifiers.org/clinvar/380763 ^@ NM_000089.3(COL1A2):c.378+6T>C http://identifiers.org/clinvar/386598 ^@ NM_004612.3(TGFBR1):c.32G>A (p.Arg11Gln) http://identifiers.org/clinvar/390397 ^@ NM_033087.3(ALG2):c.475A>G (p.Ile159Val) http://identifiers.org/clinvar/380964 ^@ NM_021830.4(TWNK):c.1713G>A (p.Ala571=) http://identifiers.org/clinvar/385159 ^@ NM_005609.3(PYGM):c.1769-3C>T http://identifiers.org/clinvar/383357 ^@ NM_000445.4(PLEC):c.11643C>T (p.Arg3881=) http://identifiers.org/clinvar/381014 ^@ NM_032578.3(MYPN):c.1246-16G>T http://identifiers.org/clinvar/380111 ^@ NM_000051.3(ATM):c.7314A>C (p.Thr2438=) http://identifiers.org/clinvar/380011 ^@ NM_016035.4(COQ4):c.533-17A>C http://identifiers.org/clinvar/392336 ^@ NM_001130438.2(SPTAN1):c.1050G>A (p.Ala350=) http://identifiers.org/clinvar/386098 ^@ NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=) http://identifiers.org/clinvar/390247 ^@ NM_006231.3(POLE):c.5157A>T (p.Ser1719=) http://identifiers.org/clinvar/385948 ^@ NM_000059.3(BRCA2):c.1909+6T>A http://identifiers.org/clinvar/386848 ^@ NM_006231.3(POLE):c.837C>G (p.Thr279=) http://identifiers.org/clinvar/378367 ^@ NM_004572.3(PKP2):c.250C>T (p.Pro84Ser) http://identifiers.org/clinvar/392936 ^@ NM_203447.3(DOCK8):c.5781C>T (p.Tyr1927=) http://identifiers.org/clinvar/392686 ^@ NM_001003800.1(BICD2):c.918C>T (p.Gly306=) http://identifiers.org/clinvar/382656 ^@ NM_139241.3(FGD4):c.1782C>T (p.Ser594=) http://identifiers.org/clinvar/384258 ^@ NM_004092.3(ECHS1):c.666C>T (p.Ala222=) http://identifiers.org/clinvar/390947 ^@ NM_201590.2(CACNB2):c.-200194G>A http://identifiers.org/clinvar/389897 ^@ NM_000020.2(ACVRL1):c.1466T>C (p.Leu489Pro) http://identifiers.org/clinvar/386548 ^@ NM_152594.2(SPRED1):c.879G>A (p.Leu293=) http://identifiers.org/clinvar/391047 ^@ NM_006258.3(PRKG1):c.-31C>T http://identifiers.org/clinvar/382956 ^@ NM_000137.2(FAH):c.456-20C>T http://identifiers.org/clinvar/384809 ^@ NM_020778.4(ALPK3):c.2316T>C (p.Asp772=) http://identifiers.org/clinvar/392086 ^@ NM_020778.4(ALPK3):c.2982T>A (p.Gly994=) http://identifiers.org/clinvar/384659 ^@ NM_000257.3(MYH7):c.-29A>G http://identifiers.org/clinvar/392586 ^@ NM_015087.4(SPG20):c.1139G>A (p.Arg380His) http://identifiers.org/clinvar/379961 ^@ NM_001160147.1(DDHD1):c.317G>C (p.Gly106Ala) http://identifiers.org/clinvar/392286 ^@ NM_000875.4(IGF1R):c.1590-1G>C http://identifiers.org/clinvar/386298 ^@ NM_005566.3(LDHA):c.183G>A (p.Glu61=) http://identifiers.org/clinvar/386998 ^@ NM_000814.5(GABRB3):c.183C>G (p.Val61=) http://identifiers.org/clinvar/390347 ^@ NM_000548.4(TSC2):c.1840-4A>G http://identifiers.org/clinvar/378213 ^@ NM_000257.3(MYH7):c.4290G>T (p.Val1430=) http://identifiers.org/clinvar/381164 ^@ NM_005343.3(HRAS):c.-53-17A>G http://identifiers.org/clinvar/380512 ^@ NM_005050.3(ABCD4):c.1049C>G (p.Thr350Arg) http://identifiers.org/clinvar/386798 ^@ NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) http://identifiers.org/clinvar/378418 ^@ NM_002693.2(POLG):c.3451C>T (p.Leu1151=) http://identifiers.org/clinvar/390297 ^@ NM_012463.3(ATP6V0A2):c.1457C>T (p.Ser486Leu) http://identifiers.org/clinvar/384458 ^@ NM_006231.3(POLE):c.6658-19C>T http://identifiers.org/clinvar/392636 ^@ NM_005477.2(HCN4):c.2903C>T (p.Pro968Leu) http://identifiers.org/clinvar/380211 ^@ NM_006231.3(POLE):c.3582+17A>G http://identifiers.org/clinvar/380462 ^@ NM_000548.4(TSC2):c.3892G>A (p.Val1298Met) http://identifiers.org/clinvar/378468 ^@ NM_030665.3(RAI1):c.3682T>G (p.Phe1228Val) http://identifiers.org/clinvar/47513 ^@ NM_133378.4(TTN):c.83917G>A (p.Gly27973Arg) http://identifiers.org/clinvar/47963 ^@ NM_147196.2(TMIE):c.40G>A (p.Gly14Ser) http://identifiers.org/clinvar/48015 ^@ NM_005709.3(USH1C):c.403G>A (p.Val135Ile) http://identifiers.org/clinvar/48065 ^@ NM_170707.3(LMNA):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/48115 ^@ NM_000337.5(SGCD):c.123C>G (p.Leu41=) http://identifiers.org/clinvar/48165 ^@ NM_194248.2(OTOF):c.1185C>T (p.Thr395=) http://identifiers.org/clinvar/48215 ^@ NM_194248.2(OTOF):c.3401G>A (p.Arg1134Gln) http://identifiers.org/clinvar/48265 ^@ NM_194248.2(OTOF):c.5610C>T (p.Thr1870=) http://identifiers.org/clinvar/48315 ^@ NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) http://identifiers.org/clinvar/48366 ^@ NM_206933.2(USH2A):c.11121G>T (p.Lys3707Asn) http://identifiers.org/clinvar/48416 ^@ NM_206933.2(USH2A):c.13313G>A (p.Trp4438Ter) http://identifiers.org/clinvar/48466 ^@ NM_206933.2(USH2A):c.15501G>A (p.Met5167Ile) http://identifiers.org/clinvar/48518 ^@ NM_206933.2(USH2A):c.4560C>T (p.Ile1520=) http://identifiers.org/clinvar/67 ^@ NM_000374.4(UROD):c.636+1G>C http://identifiers.org/clinvar/120 ^@ NM_000071.2(CBS):c.833T>C (p.Ile278Thr) http://identifiers.org/clinvar/629 ^@ NM_000277.1(PAH):c.136G>A (p.Gly46Ser) http://identifiers.org/clinvar/638 ^@ NM_000277.1(PAH):c.-4165_-407del3759 http://identifiers.org/clinvar/647 ^@ F5, 4-BP INS, 2805ATTG http://identifiers.org/clinvar/851 ^@ NM_080669.5(SLC46A1):c.194delG (p.Gly65Alafs) http://identifiers.org/clinvar/879 ^@ NM_000046.3(ARSB):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/888 ^@ NM_000046.3(ARSB):c.1143-8T>G http://identifiers.org/clinvar/1047 ^@ OBSL1, 10-BP DEL, NT1256 http://identifiers.org/clinvar/1155 ^@ NM_001166686.1(PFKM):c.1841A>C (p.Asp614Ala) http://identifiers.org/clinvar/1245 ^@ NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) http://identifiers.org/clinvar/1296 ^@ NM_018993.3(RIN2):c.1731delC (p.Ile578Serfs) http://identifiers.org/clinvar/1340 ^@ CEP290, 4-BP DEL, 384TAGA http://identifiers.org/clinvar/1386 ^@ NM_153704.5(TMEM67):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/1662 ^@ NM_000785.3(CYP27B1):c.630delG (p.Glu211Argfs) http://identifiers.org/clinvar/1707 ^@ NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) http://identifiers.org/clinvar/1754 ^@ MSH2, DEL 50 CODONS http://identifiers.org/clinvar/1803 ^@ NM_000102.3(CYP17A1):c.374G>A (p.Arg125Gln) http://identifiers.org/clinvar/1849 ^@ NM_024728.2(SUGCT):c.895C>T (p.Arg299Trp) http://identifiers.org/clinvar/10371 ^@ NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) http://identifiers.org/clinvar/10421 ^@ G6PD VARNSDORF http://identifiers.org/clinvar/10515 ^@ GPR143, 17-BP DEL http://identifiers.org/clinvar/10560 ^@ F9, -6G-C http://identifiers.org/clinvar/10605 ^@ NM_000133.3(F9):c.998C>T (p.Pro333Leu) http://identifiers.org/clinvar/10650 ^@ NM_000133.3(F9):c.1231A>G (p.Ser411Gly) http://identifiers.org/clinvar/10697 ^@ NM_000266.3(NDP):c.134T>A (p.Val45Glu) http://identifiers.org/clinvar/10831 ^@ FGD1, 1-BP DEL, 2189A http://identifiers.org/clinvar/10877 ^@ NM_000284.3(PDHA1):c.900-3_917dup21 (p.Glu305_Glu306insAspSerTyrArgThrArgGlu) http://identifiers.org/clinvar/10922 ^@ NM_000397.3(CYBB):c.625C>T (p.His209Tyr) http://identifiers.org/clinvar/10968 ^@ NM_000475.4(NR0B1):c.591C>A (p.Tyr197Ter) http://identifiers.org/clinvar/11012 ^@ NM_000531.5(OTC):c.617T>G (p.Met206Arg) http://identifiers.org/clinvar/11058 ^@ NM_000252.2(MTM1):c.1261-10A>G http://identifiers.org/clinvar/11102 ^@ TAZ, IVS2AS, G-C, -1 http://identifiers.org/clinvar/11148 ^@ NM_000390.3(CHM):c.1358_1359delCCinsGA (p.Ser453Ter) http://identifiers.org/clinvar/11194 ^@ ARX, 1-BP INS, 1188C http://identifiers.org/clinvar/11239 ^@ NM_004006.2(DMD):c.178C>T (p.Gln60Ter) http://identifiers.org/clinvar/11284 ^@ DMD, 1-BP DEL, 377A http://identifiers.org/clinvar/11329 ^@ NM_001109878.1(TBX22):c.779C>T (p.Thr260Met) http://identifiers.org/clinvar/11375 ^@ NM_000061.2(BTK):c.1506C>A (p.Cys502Ter) http://identifiers.org/clinvar/11535 ^@ NM_003688.3(CASK):c.2740T>C (p.Trp914Arg) http://identifiers.org/clinvar/11585 ^@ NM_001363.4(DKC1):c.214_215delCTinsTA (p.Leu72Tyr) http://identifiers.org/clinvar/11635 ^@ SLC16A2, EX1DEL http://identifiers.org/clinvar/11686 ^@ NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs) http://identifiers.org/clinvar/11736 ^@ NM_000489.4(ATRX):c.5225G>A (p.Arg1742Lys) http://identifiers.org/clinvar/11788 ^@ NM_000052.6(ATP7A):c.3056G>A (p.Gly1019Asp) http://identifiers.org/clinvar/11838 ^@ MECP2, DUP http://identifiers.org/clinvar/11888 ^@ NM_001061.4(TBXAS1):c.1444G>T (p.Gly482Trp) http://identifiers.org/clinvar/11938 ^@ NM_000056.4(BCKDHB):c.616C>T (p.His206Tyr) http://identifiers.org/clinvar/11989 ^@ NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) http://identifiers.org/clinvar/12040 ^@ NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) http://identifiers.org/clinvar/12090 ^@ NM_000131.4(F7):c.983T>C (p.Phe328Ser) http://identifiers.org/clinvar/12140 ^@ NM_000148.3(FUT1):c.491T>A (p.Leu164His) http://identifiers.org/clinvar/12194 ^@ NM_001166120.1(HSD3B2):c.1022C>T (p.Pro341Leu) http://identifiers.org/clinvar/12246 ^@ NM_004360.4(CDH1):c.2494G>A (p.Val832Met) http://identifiers.org/clinvar/12296 ^@ NM_001382.3(DPAGT1):c.509A>G (p.Tyr170Cys) http://identifiers.org/clinvar/12348 ^@ NM_000546.5(TP53):c.772G>A (p.Glu258Lys) http://identifiers.org/clinvar/12399 ^@ NM_000548.4(TSC2):c.1432C>T (p.Gln478Ter) http://identifiers.org/clinvar/12451 ^@ NM_152263.3(TPM3):c.855delA (p.Ter286Asnfs) http://identifiers.org/clinvar/12501 ^@ NM_001024847.2(TGFBR2):c.1676_1677dupTG (p.Ala560Trpfs) http://identifiers.org/clinvar/12551 ^@ NM_001128177.1(THRB):c.1327A>G (p.Lys443Glu) http://identifiers.org/clinvar/12602 ^@ NM_005343.3(HRAS):c.34G>A (p.Gly12Ser) http://identifiers.org/clinvar/12652 ^@ NM_133378.4(TTN):c.100076_100086delAAGTAACATGGinsTGAAAGAAAAA (p.Glu33359_Trp33362delinsValLysGluLys) http://identifiers.org/clinvar/12703 ^@ NM_003235.4(TG):c.7123G>A (p.Gly2375Arg) http://identifiers.org/clinvar/12754 ^@ NM_000073.2(CD3G):c.80_96del17 (p.Asn28Valfs) http://identifiers.org/clinvar/12804 ^@ NM_004959.4(NR5A1):c.666delC (p.Asn222Lysfs) http://identifiers.org/clinvar/36641 ^@ NM_000257.3(MYH7):c.3981C>A (p.Asn1327Lys) http://identifiers.org/clinvar/36693 ^@ NM_000535.6(PMS2):c.780C>G (p.Ser260=) http://identifiers.org/clinvar/36746 ^@ NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) http://identifiers.org/clinvar/36797 ^@ NM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro) http://identifiers.org/clinvar/37287 ^@ NM_001271620.2(ZNF423):c.2558C>T (p.Pro853Leu) http://identifiers.org/clinvar/37358 ^@ NM_000155.3(GALT):c.428C>T (p.Ser143Leu) http://identifiers.org/clinvar/37423 ^@ NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) http://identifiers.org/clinvar/37533 ^@ NM_007294.3(BRCA1):c.3612delA (p.Ala1206Profs) http://identifiers.org/clinvar/38427 ^@ NM_024312.4(GNPTAB):c.3435-1G>A http://identifiers.org/clinvar/38575 ^@ NM_000060.4(BTD):c.518T>G (p.Leu173Arg) http://identifiers.org/clinvar/38755 ^@ NM_000495.4(COL4A5):c.1216G>A (p.Gly406Ser) http://identifiers.org/clinvar/38867 ^@ NM_000282.3(PCCA):c.412G>A (p.Ala138Thr) http://identifiers.org/clinvar/38929 ^@ NM_001193466.1(KANSL1):c.1867_1870delATCC (p.Ile623Alafs) http://identifiers.org/clinvar/38980 ^@ NM_004614.4(TK2):c.198C>G (p.Cys66Trp) http://identifiers.org/clinvar/39031 ^@ NM_024312.4(GNPTAB):c.136C>T (p.Arg46Ter) http://identifiers.org/clinvar/39081 ^@ NM_024312.4(GNPTAB):c.44C>A (p.Ser15Tyr) http://identifiers.org/clinvar/39138 ^@ NM_198578.3(LRRK2):c.1630A>G (p.Lys544Glu) http://identifiers.org/clinvar/39188 ^@ NM_198578.3(LRRK2):c.4364_4365delAT (p.Asp1455Glyfs) http://identifiers.org/clinvar/39238 ^@ NM_198578.3(LRRK2):c.7190T= (p.Met2397=) http://identifiers.org/clinvar/39289 ^@ NR_001566.1(TERC):n.305G>A http://identifiers.org/clinvar/39451 ^@ NM_007101.3(SARDH):c.1540C>T (p.Arg514Ter) http://identifiers.org/clinvar/39503 ^@ NM_183075.2(CYP2U1):c.784T>C (p.Cys262Arg) http://identifiers.org/clinvar/39553 ^@ SLC30A2, GLY87ARG http://identifiers.org/clinvar/39604 ^@ NM_014254.2(TMEM5):c.1016A>G (p.Tyr339Cys) http://identifiers.org/clinvar/39655 ^@ NM_001904.3(CTNNB1):c.1543C>T (p.Arg515Ter) http://identifiers.org/clinvar/39707 ^@ CASC5, MET2041ILE http://identifiers.org/clinvar/39758 ^@ NM_006888.4(CALM1):c.293A>G (p.Asn98Ser) http://identifiers.org/clinvar/39808 ^@ NM_005027.3(PIK3R2):c.1117G>A (p.Gly373Arg) http://identifiers.org/clinvar/39859 ^@ SMCHD1, THR1522THR http://identifiers.org/clinvar/40043 ^@ PYGM, 3-BP DEL, 158ACT http://identifiers.org/clinvar/40334 ^@ NM_004333.4(BRAF):c.41C>G (p.Pro14Arg) http://identifiers.org/clinvar/40406 ^@ NM_005188.3(CBL):c.1201T>C (p.Cys401Arg) http://identifiers.org/clinvar/40474 ^@ NM_002524.4(NRAS):c.325G>C (p.Val109Leu) http://identifiers.org/clinvar/52183 ^@ NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) http://identifiers.org/clinvar/52234 ^@ NM_000059.3(BRCA2):c.6996delT (p.Cys2332Trpfs) http://identifiers.org/clinvar/52285 ^@ NM_000059.3(BRCA2):c.71T>A (p.Leu24Ter) http://identifiers.org/clinvar/52335 ^@ NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) http://identifiers.org/clinvar/52385 ^@ NM_000059.3(BRCA2):c.7680dupT (p.Gln2561Serfs) http://identifiers.org/clinvar/52436 ^@ NM_000059.3(BRCA2):c.7928C>G (p.Ala2643Gly) http://identifiers.org/clinvar/52486 ^@ NM_000059.3(BRCA2):c.8053delA (p.Thr2685Hisfs) http://identifiers.org/clinvar/53184 ^@ NM_000492.3(CFTR):c.1081T>C (p.Trp361Arg) http://identifiers.org/clinvar/53237 ^@ NM_000492.3(CFTR):c.1373delG (p.Gly458Aspfs) http://identifiers.org/clinvar/53287 ^@ NM_000492.3(CFTR):c.1584+2T>C http://identifiers.org/clinvar/53338 ^@ NM_000492.3(CFTR):c.1680-886A>G http://identifiers.org/clinvar/53388 ^@ NM_000492.3(CFTR):c.1792_1798delAAAACTA (p.Lys598Glyfs) http://identifiers.org/clinvar/53440 ^@ NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter) http://identifiers.org/clinvar/53493 ^@ NM_000492.3(CFTR):c.2467G>T (p.Glu823Ter) http://identifiers.org/clinvar/53543 ^@ NM_000492.3(CFTR):c.2684G>A (p.Ser895Asn) http://identifiers.org/clinvar/53593 ^@ NM_000492.3(CFTR):c.2909-1G>A http://identifiers.org/clinvar/53645 ^@ NM_000492.3(CFTR):c.3064_3117del54 (p.Val1022_Gln1039del) http://identifiers.org/clinvar/53696 ^@ NM_000492.3(CFTR):c.325_327delTATinsG (p.Tyr109Glyfs) http://identifiers.org/clinvar/53746 ^@ NM_000492.3(CFTR):c.3445delT (p.Ser1149Profs) http://identifiers.org/clinvar/53797 ^@ NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) http://identifiers.org/clinvar/53851 ^@ NM_000492.3(CFTR):c.3918C>T (p.Pro1306=) http://identifiers.org/clinvar/53901 ^@ NM_000492.3(CFTR):c.4143C>A (p.Tyr1381Ter) http://identifiers.org/clinvar/53952 ^@ NM_000492.3(CFTR):c.446G>T (p.Gly149Val) http://identifiers.org/clinvar/54002 ^@ NM_000492.3(CFTR):c.567C>A (p.Asn189Lys) http://identifiers.org/clinvar/54052 ^@ NM_000492.3(CFTR):c.743+1G>C http://identifiers.org/clinvar/54104 ^@ NM_007294.3(BRCA1):c.1030G>A (p.Ala344Thr) http://identifiers.org/clinvar/54154 ^@ NM_007294.3(BRCA1):c.1165delA (p.Ser389Valfs) http://identifiers.org/clinvar/54204 ^@ NM_007294.3(BRCA1):c.1333G>T (p.Glu445Ter) http://identifiers.org/clinvar/54254 ^@ NM_007294.3(BRCA1):c.1446_1448delTAT (p.Ile483del) http://identifiers.org/clinvar/54305 ^@ NM_007294.3(BRCA1):c.1601dupA (p.Thr536Asnfs) http://identifiers.org/clinvar/54355 ^@ NM_007294.3(BRCA1):c.1805delA (p.Asn602Ilefs) http://identifiers.org/clinvar/54406 ^@ NM_007294.3(BRCA1):c.1938_1947delCAGTGAAGAG (p.Ser646Argfs) http://identifiers.org/clinvar/54456 ^@ NM_007294.3(BRCA1):c.2083G>T (p.Asp695Tyr) http://identifiers.org/clinvar/54506 ^@ NM_007294.3(BRCA1):c.2222C>G (p.Ser741Cys) http://identifiers.org/clinvar/55452 ^@ NM_007294.3(BRCA1):c.5194-2A>C http://identifiers.org/clinvar/55967 ^@ NM_000111.2(SLC26A3):c.1312-1G>A http://identifiers.org/clinvar/56020 ^@ NM_000112.3(SLC26A2):c.2120_2121delTT (p.Leu707Profs) http://identifiers.org/clinvar/56071 ^@ NM_000170.2(GLDC):c.2306C>T (p.Pro769Leu) http://identifiers.org/clinvar/56124 ^@ NM_000274.3(OAT):c.373_375delGAG (p.Glu125del) http://identifiers.org/clinvar/56176 ^@ NM_000310.3(PPT1):c.124+1G>A http://identifiers.org/clinvar/56226 ^@ NM_000481.3(AMT):c.139G>T (p.Gly47Trp) http://identifiers.org/clinvar/56277 ^@ NM_001042432.1(CLN3):c.509T>C (p.Leu170Pro) http://identifiers.org/clinvar/56329 ^@ NM_001081.3(CUBN):c.252+1G>A http://identifiers.org/clinvar/56379 ^@ NM_001126105.2(SLC7A7):c.820dupT (p.Tyr274Leufs) http://identifiers.org/clinvar/56431 ^@ NM_004646.3(NPHS1):c.121_122delCT (p.Leu41Aspfs) http://identifiers.org/clinvar/56481 ^@ NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) http://identifiers.org/clinvar/56532 ^@ NM_006493.2(CLN5):c.291dupC (p.Ser98Leufs) http://identifiers.org/clinvar/56584 ^@ NM_017739.3(POMGNT1):c.1540-2A>G http://identifiers.org/clinvar/56640 ^@ NM_017890.4(VPS13B):c.11695_11698delAGTG (p.Ser3901Argfs) http://identifiers.org/clinvar/56690 ^@ NM_017890.4(VPS13B):c.7936delC (p.Gln2646Argfs) http://identifiers.org/clinvar/56740 ^@ NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs) http://identifiers.org/clinvar/56809 ^@ NM_015352.1(POFUT1):c.482delA (p.Lys161Serfs) http://identifiers.org/clinvar/56999 ^@ GRCh38/hg38 3p26.3(chr3:76052-229025)x1 http://identifiers.org/clinvar/57052 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 http://identifiers.org/clinvar/57108 ^@ GRCh38/hg38 1p32.3(chr1:50462649-51149312)x3 http://identifiers.org/clinvar/57160 ^@ GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 http://identifiers.org/clinvar/57211 ^@ GRCh38/hg38 11q22.1(chr11:100042662-100756524)x3 http://identifiers.org/clinvar/57264 ^@ GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 http://identifiers.org/clinvar/57317 ^@ GRCh38/hg38 8q21.2-21.3(chr8:85554861-86369755)x3 http://identifiers.org/clinvar/57371 ^@ GRCh38/hg38 17q25.3(chr17:82884871-83086677)x3 http://identifiers.org/clinvar/101188 ^@ NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val) http://identifiers.org/clinvar/242647 ^@ NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu) http://identifiers.org/clinvar/101238 ^@ NM_000090.3(COL3A1):c.1662+1G>T (p.Gly537_Pro554del) http://identifiers.org/clinvar/101288 ^@ NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg) http://identifiers.org/clinvar/101338 ^@ NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) http://identifiers.org/clinvar/103166 ^@ NM_032206.4(NLRC5):c.2754G>A (p.Val918=) http://identifiers.org/clinvar/103216 ^@ NM_134444.4(NLRP4):c.-66+6G>T http://identifiers.org/clinvar/103266 ^@ NM_145007.3(NLRP11):c.-284-50A>G http://identifiers.org/clinvar/103316 ^@ NM_176810.2(NLRP13):c.3104C>T (p.Ser1035Leu) http://identifiers.org/clinvar/125532 ^@ NM_007294.3(BRCA1):c.2038_2039insCC (p.Lys680Thrfs) http://identifiers.org/clinvar/125614 ^@ NM_007294.3(BRCA1):c.213-161A>G http://identifiers.org/clinvar/125682 ^@ NM_007294.3(BRCA1):c.4163dupA (p.Ser1389Glufs) http://identifiers.org/clinvar/125746 ^@ NM_007294.3(BRCA1):c.4987-68A>G http://identifiers.org/clinvar/125824 ^@ NM_007294.3(BRCA1):c.5332+15G>C http://identifiers.org/clinvar/125884 ^@ NM_007294.3(BRCA1):c.548-13G>T http://identifiers.org/clinvar/125949 ^@ NM_000059.3(BRCA2):c.1608dupT (p.Glu537Terfs) http://identifiers.org/clinvar/126011 ^@ NM_000059.3(BRCA2):c.3407_3408ins100 (p.?) http://identifiers.org/clinvar/126082 ^@ NM_000059.3(BRCA2):c.5863delT (p.Ser1955Glnfs) http://identifiers.org/clinvar/126147 ^@ U43746.1:n.7829+4T>C http://identifiers.org/clinvar/126206 ^@ NM_000059.3(BRCA2):c.9257-19_9257-17del3insCC http://identifiers.org/clinvar/126265 ^@ NM_025114.3(CEP290):c.5709+45G>C http://identifiers.org/clinvar/126316 ^@ NM_020732.3(ARID1B):c.1678A>G (p.Ile560Val) http://identifiers.org/clinvar/126366 ^@ NM_001128849.1(SMARCA4):c.915G>A (p.Pro305=) http://identifiers.org/clinvar/126423 ^@ NM_001145294.1(NGLY1):c.1079_1081delGAA (p.Arg360del) http://identifiers.org/clinvar/126496 ^@ NM_005654.5(NR2F1):c.335G>A (p.Arg112Lys) http://identifiers.org/clinvar/126577 ^@ NM_024675.3(PALB2):c.-46G>A http://identifiers.org/clinvar/126627 ^@ NM_024675.3(PALB2):c.1935G>A (p.Glu645=) http://identifiers.org/clinvar/126679 ^@ NM_024675.3(PALB2):c.2752C>T (p.Pro918Ser) http://identifiers.org/clinvar/126780 ^@ NM_024675.3(PALB2):c.925A>G (p.Ile309Val) http://identifiers.org/clinvar/126831 ^@ NM_000321.2(RB1):c.1166T>A (p.Leu389Ter) http://identifiers.org/clinvar/126885 ^@ NM_017545.2(HAO1):c.290-1983G>A http://identifiers.org/clinvar/126940 ^@ NM_001127464.2(ZNF469):c.2904_2909delGTCGGG (p.Ser969_Gly970del) http://identifiers.org/clinvar/126990 ^@ NM_000249.3(MLH1):c.*281G>T http://identifiers.org/clinvar/127040 ^@ NM_020661.3(AICDA):c.24G>T (p.Arg8=) http://identifiers.org/clinvar/127097 ^@ PMP22, 1.4-MB TRIPLICATION http://identifiers.org/clinvar/127164 ^@ NM_001101.3(ACTB):c.224T>C (p.Ile75Thr) http://identifiers.org/clinvar/127263 ^@ NM_001127255.1(NLRP7):c.719G>A (p.Ser240Asn) http://identifiers.org/clinvar/127314 ^@ NM_000038.5(APC):c.6691A>T (p.Ile2231Phe) http://identifiers.org/clinvar/160784 ^@ GRCh38/hg38 3p12.2(chr3:80367579-80994156)x3 http://identifiers.org/clinvar/161090 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 http://identifiers.org/clinvar/161140 ^@ NM_152296.4(ATP1A3):c.2411C>T (p.Thr804Ile) http://identifiers.org/clinvar/161322 ^@ NM_000257.3(MYH7):c.5494C>T (p.Arg1832Cys) http://identifiers.org/clinvar/161222 ^@ NM_004949.4(DSC2):c.1018A>G (p.Thr340Ala) http://identifiers.org/clinvar/161272 ^@ NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) http://identifiers.org/clinvar/161372 ^@ NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) http://identifiers.org/clinvar/161436 ^@ NM_000823.3(GHRHR):c.281G>A (p.Arg94Gln) http://identifiers.org/clinvar/161791 ^@ NM_052896.4(CSMD2):c.7814G>T (p.Arg2605Leu) http://identifiers.org/clinvar/161591 ^@ NM_002236.4(KCNF1):c.248C>T (p.Pro83Leu) http://identifiers.org/clinvar/161841 ^@ NM_001348951.1(WDR49):c.2432C>A (p.Ser811Ter) http://identifiers.org/clinvar/161491 ^@ NM_001010903.4(C6orf222):c.1447C>T (p.Arg483Trp) http://identifiers.org/clinvar/161741 ^@ NM_020952.4(TRPM3):c.2320G>A (p.Gly774Arg) http://identifiers.org/clinvar/161691 ^@ NM_015062.4(PPRC1):c.904A>G (p.Ile302Val) http://identifiers.org/clinvar/161541 ^@ NM_001161354.1(PLEKHA4):c.20_28delGCAGCAGCC (p.Arg7_Ser9del) http://identifiers.org/clinvar/161641 ^@ NM_005762.2(TRIM28):c.2193+3G>T http://identifiers.org/clinvar/162012 ^@ NR_039729.1(MIR2392):n.-10132_-1575del http://identifiers.org/clinvar/162075 ^@ NM_002019.4(FLT1):c.2708-29A>C http://identifiers.org/clinvar/162132 ^@ NM_004527.3(MEOX1):c.250C>T (p.Gln84Ter) http://identifiers.org/clinvar/162200 ^@ NM_003480.3(MFAP5):c.62G>T (p.Trp21Leu) http://identifiers.org/clinvar/162402 ^@ NM_020461.3(TUBGCP6):c.4333_4334insT (p.His1445Leufs) http://identifiers.org/clinvar/162483 ^@ NM_004208.3(AIFM1):c.1678T>C (p.Tyr560His) http://identifiers.org/clinvar/162551 ^@ NM_004369.3(COL6A3):c.6868C>T (p.Arg2290Cys) http://identifiers.org/clinvar/162661 ^@ NM_004130.3(GYG1):c.143+3G>C http://identifiers.org/clinvar/162809 ^@ NM_001232.3(CASQ2):c.1131A>T (p.Glu377Asp) http://identifiers.org/clinvar/165127 ^@ NM_001035.2(RYR2):c.12859T>C (p.Tyr4287His) http://identifiers.org/clinvar/165539 ^@ NM_000364.3(TNNT2):c.635G>A (p.Arg212Gln) http://identifiers.org/clinvar/166501 ^@ NM_206933.2(USH2A):c.4668G>A (p.Leu1556=) http://identifiers.org/clinvar/162743 ^@ NM_001103.3(ACTN2):c.2367+8A>G http://identifiers.org/clinvar/178291 ^@ NM_057176.2(BSND):c.457G>A (p.Asp153Asn) http://identifiers.org/clinvar/165661 ^@ NM_133378.4(TTN):c.93276G>C (p.Glu31092Asp) http://identifiers.org/clinvar/165849 ^@ NM_133378.4(TTN):c.64205G>A (p.Arg21402Gln) http://identifiers.org/clinvar/165947 ^@ NM_133378.4(TTN):c.50486C>T (p.Thr16829Met) http://identifiers.org/clinvar/179749 ^@ NM_206933.2(USH2A):c.9688G>A (p.Ala3230Thr) http://identifiers.org/clinvar/178191 ^@ NM_001256850.1(TTN):c.67664G>A (p.Arg22555His) http://identifiers.org/clinvar/165997 ^@ NM_133378.4(TTN):c.44477T>C (p.Leu14826Pro) http://identifiers.org/clinvar/166134 ^@ NM_133378.4(TTN):c.24734G>A (p.Arg8245Gln) http://identifiers.org/clinvar/166253 ^@ NM_133379.4(TTN):c.15575G>A (p.Arg5192Lys) http://identifiers.org/clinvar/179799 ^@ NM_133378.4(TTN):c.26975A>C (p.Asp8992Ala) http://identifiers.org/clinvar/178241 ^@ NM_133378.4(TTN):c.18023C>T (p.Thr6008Ile) http://identifiers.org/clinvar/178341 ^@ NM_005219.4(DIAPH1):c.2924A>G (p.Asn975Ser) http://identifiers.org/clinvar/166303 ^@ NM_133378.4(TTN):c.8633_8636delTTGT (p.Phe2878Trpfs) http://identifiers.org/clinvar/178759 ^@ NM_001369.2(DNAH5):c.58-13T>C http://identifiers.org/clinvar/163071 ^@ NM_005219.4(DIAPH1):c.2672T>C (p.Ile891Thr) http://identifiers.org/clinvar/166587 ^@ NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) http://identifiers.org/clinvar/178591 ^@ NM_006005.3(WFS1):c.1321G>A (p.Val441Met) http://identifiers.org/clinvar/163121 ^@ NM_001277115.1(DNAH11):c.11122G>T (p.Val3708Leu) http://identifiers.org/clinvar/165272 ^@ NM_198999.2(SLC26A5):c.137T>C (p.Leu46Pro) http://identifiers.org/clinvar/164798 ^@ NM_016616.4(NME8):c.128G>A (p.Arg43Lys) http://identifiers.org/clinvar/201400 ^@ NM_001035.2(RYR2):c.11995A>T (p.Met3999Leu) http://identifiers.org/clinvar/201508 ^@ NM_198056.2(SCN5A):c.4245+1G>C http://identifiers.org/clinvar/201566 ^@ NM_198056.2(SCN5A):c.3491dupC (p.Glu1165Argfs) http://identifiers.org/clinvar/201452 ^@ NM_198056.2(SCN5A):c.1373G>A (p.Arg458His) http://identifiers.org/clinvar/201626 ^@ NM_001103.3(ACTN2):c.143G>C (p.Cys48Ser) http://identifiers.org/clinvar/202128 ^@ NM_024334.2(TMEM43):c.337G>A (p.Val113Met) http://identifiers.org/clinvar/201954 ^@ NM_014476.5(PDLIM3):c.926G>A (p.Arg309Gln) http://identifiers.org/clinvar/202069 ^@ NM_001134363.2(RBM20):c.2588C>G (p.Pro863Arg) http://identifiers.org/clinvar/201681 ^@ NM_004281.3(BAG3):c.880C>A (p.Arg294Ser) http://identifiers.org/clinvar/201901 ^@ NM_006393.2(NEBL):c.1316G>A (p.Arg439Gln) http://identifiers.org/clinvar/201846 ^@ NM_007078.2(LDB3):c.1109C>T (p.Pro370Leu) http://identifiers.org/clinvar/202011 ^@ NM_004572.3(PKP2):c.314delC (p.Pro105Leufs) http://identifiers.org/clinvar/201792 ^@ NM_020433.4(JPH2):c.128A>G (p.Asn43Ser) http://identifiers.org/clinvar/201736 ^@ NM_004006.2(DMD):c.5933G>T (p.Arg1978Leu) http://identifiers.org/clinvar/242595 ^@ NM_016124.4(RHD):c.744C>T (p.Ser248=) http://identifiers.org/clinvar/202184 ^@ NM_002667.4(PLN):c.131T>C (p.Leu44Pro) http://identifiers.org/clinvar/202234 ^@ NC_000005.9:g.(?_180096438)_(180217003_?)dup http://identifiers.org/clinvar/203117 ^@ NM_001256850.1(TTN):c.102594T>G (p.Ser34198Arg) http://identifiers.org/clinvar/203067 ^@ NM_001256850.1(TTN):c.97734T>A (p.Ser32578Arg) http://identifiers.org/clinvar/202526 ^@ NM_001256850.1(TTN):c.84357T>A (p.Tyr28119Ter) http://identifiers.org/clinvar/202413 ^@ NM_001256850.1(TTN):c.76414G>T (p.Glu25472Ter) http://identifiers.org/clinvar/202467 ^@ NM_001256850.1(TTN):c.70215_70218delAGAA (p.Lys23405Asnfs) http://identifiers.org/clinvar/229746 ^@ NM_000038.5(APC):c.5025T>G (p.Val1675=) http://identifiers.org/clinvar/233446 ^@ NM_000535.6(PMS2):c.270T>G (p.Ser90=) http://identifiers.org/clinvar/229796 ^@ NM_000077.4(CDKN2A):c.171C>T (p.Ala57=) http://identifiers.org/clinvar/233046 ^@ NM_005591.3(MRE11):c.2096A>G (p.Asn699Ser) http://identifiers.org/clinvar/233396 ^@ NM_001042492.2(NF1):c.1226T>A (p.Val409Glu) http://identifiers.org/clinvar/234926 ^@ NM_003052.4(SLC34A1):c.644+1G>A http://identifiers.org/clinvar/235063 ^@ NM_001001430.2(TNNT2):c.275G>T (p.Arg92Leu) http://identifiers.org/clinvar/235013 ^@ NC_012920.1:m.4315A>G http://identifiers.org/clinvar/235188 ^@ NM_018946.3(NANS):c.398G>T (p.Gly133Val) http://identifiers.org/clinvar/235252 ^@ NM_020207.4(ERCC6L2):c.54G>C (p.Gln18His) http://identifiers.org/clinvar/235305 ^@ NM_004453.3(ETFDH):c.157A>T (p.Lys53Ter) http://identifiers.org/clinvar/235356 ^@ NM_001916.4(CYC1):c.227T>C (p.Val76Ala) http://identifiers.org/clinvar/235411 ^@ NM_000448.2(RAG1):c.775delA (p.Ser259Alafs) http://identifiers.org/clinvar/235466 ^@ NM_007055.3(POLR3A):c.2617C>T (p.Arg873Ter) http://identifiers.org/clinvar/235520 ^@ NM_001410.2(MEGF8):c.7472C>T (p.Pro2491Leu) http://identifiers.org/clinvar/235571 ^@ NM_000528.3(MAN2B1):c.2221G>A (p.Gly741Arg) http://identifiers.org/clinvar/235621 ^@ NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) http://identifiers.org/clinvar/235674 ^@ NM_030930.3(UNC93B1):c.1120C>G (p.Arg374Gly) http://identifiers.org/clinvar/235735 ^@ NM_001039876.2(SYNE4):c.1102G>A (p.Val368Met) http://identifiers.org/clinvar/235809 ^@ NM_002900.2(RBP3):c.3613T>A (p.Ser1205Thr) http://identifiers.org/clinvar/235862 ^@ NM_003719.3(PDE8B):c.79delC (p.Arg27Alafs) http://identifiers.org/clinvar/242388 ^@ NM_000350.2(ABCA4):c.3289A>T (p.Arg1097Ter) http://identifiers.org/clinvar/238231 ^@ NM_001035.2(RYR2):c.3827C>T (p.Thr1276Ile) http://identifiers.org/clinvar/237631 ^@ NM_000310.3(PPT1):c.798+1G>T http://identifiers.org/clinvar/238781 ^@ NM_001267550.2(TTN):c.44117A>G (p.Asn14706Ser) http://identifiers.org/clinvar/238731 ^@ NM_001267550.2(TTN):c.27872T>C (p.Phe9291Ser) http://identifiers.org/clinvar/237831 ^@ NM_000465.3(BARD1):c.2237A>G (p.His746Arg) http://identifiers.org/clinvar/239824 ^@ NM_004304.4(ALK):c.3594C>T (p.Leu1198=) http://identifiers.org/clinvar/237380 ^@ NM_000251.2(MSH2):c.2088A>G (p.Pro696=) http://identifiers.org/clinvar/241714 ^@ NM_032638.4(GATA2):c.1035C>G (p.Ala345=) http://identifiers.org/clinvar/237330 ^@ NM_000249.3(MLH1):c.2130C>G (p.Asn710Lys) http://identifiers.org/clinvar/240675 ^@ NM_006514.3(SCN10A):c.4515G>A (p.Thr1505=) http://identifiers.org/clinvar/240275 ^@ NM_006030.3(CACNA2D2):c.1746G>A (p.Ala582=) http://identifiers.org/clinvar/238581 ^@ NM_001148.4(ANK2):c.4237C>T (p.Leu1413=) http://identifiers.org/clinvar/238281 ^@ NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) http://identifiers.org/clinvar/240325 ^@ NM_006206.4(PDGFRA):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/237280 ^@ NM_000222.2(KIT):c.638T>C (p.Val213Ala) http://identifiers.org/clinvar/242214 ^@ NM_198253.2(TERT):c.1328C>G (p.Thr443Arg) http://identifiers.org/clinvar/240225 ^@ NM_005732.3(RAD50):c.2396A>G (p.Gln799Arg) http://identifiers.org/clinvar/239674 ^@ NM_004168.3(SDHA):c.534C>T (p.Leu178=) http://identifiers.org/clinvar/238631 ^@ NM_001206927.1(DNAH8):c.11379G>A (p.Thr3793=) http://identifiers.org/clinvar/262763 ^@ NM_153717.2(EVC):c.1096C>T (p.Leu366=) http://identifiers.org/clinvar/261813 ^@ NM_025074.6(FRAS1):c.7132A>G (p.Lys2378Glu) http://identifiers.org/clinvar/255795 ^@ NM_000297.3(PKD2):c.570G>T (p.Ala190=) http://identifiers.org/clinvar/257984 ^@ NM_001369.2(DNAH5):c.11761+5A>G http://identifiers.org/clinvar/258034 ^@ NM_001369.2(DNAH5):c.4431C>T (p.Ser1477=) http://identifiers.org/clinvar/259674 ^@ NM_005219.4(DIAPH1):c.1461+20G>A http://identifiers.org/clinvar/257434 ^@ NM_001099287.1(NIPAL4):c.1302T>C (p.Val434=) http://identifiers.org/clinvar/263063 ^@ NM_182925.4(FLT4):c.489C>T (p.Pro163=) http://identifiers.org/clinvar/256095 ^@ NM_000426.3(LAMA2):c.9212-15C>A http://identifiers.org/clinvar/255745 ^@ NM_000288.3(PEX7):c.-31G>A http://identifiers.org/clinvar/257584 ^@ NM_001164694.1(IYD):c.793T>C (p.Cys265Arg) http://identifiers.org/clinvar/256295 ^@ NM_000500.7(CYP21A2):c.550-8T>C http://identifiers.org/clinvar/262413 ^@ NM_138694.3(PKHD1):c.7733+43G>A http://identifiers.org/clinvar/258134 ^@ NM_001458.4(FLNC):c.2292C>T (p.Pro764=) http://identifiers.org/clinvar/255495 ^@ NM_000193.3(SHH):c.301-49G>A http://identifiers.org/clinvar/257884 ^@ NM_001277115.1(DNAH11):c.3649-20T>C http://identifiers.org/clinvar/257934 ^@ NM_001277115.1(DNAH11):c.8155-19C>T http://identifiers.org/clinvar/263113 ^@ NM_198428.2(BBS9):c.1110C>T (p.Asn370=) http://identifiers.org/clinvar/255445 ^@ NM_000168.5(GLI3):c.537C>T (p.His179=) http://identifiers.org/clinvar/260174 ^@ NM_012082.3(ZFPM2):c.2346G>C (p.Glu782Asp) http://identifiers.org/clinvar/260274 ^@ NM_012472.5(LRRC6):c.1397T>C (p.Ile466Thr) http://identifiers.org/clinvar/262663 ^@ NM_152564.4(VPS13B):c.6047-22T>G http://identifiers.org/clinvar/255145 ^@ NM_000118.3(ENG):c.360+21C>T http://identifiers.org/clinvar/255945 ^@ NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) http://identifiers.org/clinvar/255095 ^@ NM_000093.4(COL5A1):c.5001C>T (p.Phe1667=) http://identifiers.org/clinvar/262363 ^@ NM_133497.3(KCNV2):c.915G>A (p.Val305=) http://identifiers.org/clinvar/260124 ^@ NM_007126.3(VCP):c.1695+8A>G http://identifiers.org/clinvar/261763 ^@ NM_024747.5(HPS6):c.1764G>A (p.Gln588=) http://identifiers.org/clinvar/262213 ^@ NM_033100.3(CDHR1):c.2434C>T (p.Pro812Ser) http://identifiers.org/clinvar/260724 ^@ NM_016341.3(PLCE1):c.5330C>T (p.Thr1777Ile) http://identifiers.org/clinvar/260474 ^@ NM_014956.4(CEP164):c.1317+3G>A http://identifiers.org/clinvar/260024 ^@ NM_006757.3(TNNT3):c.125+50G>C http://identifiers.org/clinvar/261713 ^@ NM_024426.4(WT1):c.594C>T (p.Asn198=) http://identifiers.org/clinvar/258634 ^@ NM_002335.3(LRP5):c.1647T>C (p.Phe549=) http://identifiers.org/clinvar/262813 ^@ NM_172364.4(CACNA2D4):c.2087A>G (p.His696Arg) http://identifiers.org/clinvar/258234 ^@ NM_001844.4(COL2A1):c.3991G>A (p.Val1331Ile) http://identifiers.org/clinvar/260374 ^@ NM_014254.2(TMEM5):c.1226A>G (p.Glu409Gly) http://identifiers.org/clinvar/262263 ^@ NM_052867.2(NALCN):c.4416A>C (p.Ile1472=) http://identifiers.org/clinvar/258834 ^@ NM_002863.4(PYGL):c.1621-6T>C http://identifiers.org/clinvar/257134 ^@ NM_001024858.2(SPTB):c.6269+13C>T http://identifiers.org/clinvar/262513 ^@ NM_144596.3(TTC8):c.1401G>A (p.Pro467=) http://identifiers.org/clinvar/257534 ^@ NM_001130010.2(C15orf41):c.427-15C>G http://identifiers.org/clinvar/257634 ^@ NM_001211.5(BUB1B):c.2143+15C>T http://identifiers.org/clinvar/262313 ^@ NM_130468.3(CHST14):c.807T>C (p.Asp269=) http://identifiers.org/clinvar/260324 ^@ NM_014080.4(DUOX2):c.3515+15T>A http://identifiers.org/clinvar/255295 ^@ NM_000138.4(FBN1):c.3845A>G (p.Asn1282Ser) http://identifiers.org/clinvar/332669 ^@ NM_133378.4(TTN):c.*587T>A http://identifiers.org/clinvar/332719 ^@ NM_133378.4(TTN):c.88787A>G (p.Tyr29596Cys) http://identifiers.org/clinvar/332769 ^@ NM_133378.4(TTN):c.72441C>G (p.Val24147=) http://identifiers.org/clinvar/332819 ^@ NM_133378.4(TTN):c.53107C>A (p.Pro17703Thr) http://identifiers.org/clinvar/332869 ^@ NM_133378.4(TTN):c.36763A>G (p.Arg12255Gly) http://identifiers.org/clinvar/333269 ^@ NM_007315.3(STAT1):c.1707G>A (p.Leu569=) http://identifiers.org/clinvar/333069 ^@ NM_000090.3(COL3A1):c.3998A>G (p.Asp1333Gly) http://identifiers.org/clinvar/333219 ^@ NM_005259.2(MSTN):c.*1203G>C http://identifiers.org/clinvar/333319 ^@ NM_001006657.1(WDR35):c.*3235C>A http://identifiers.org/clinvar/333819 ^@ NM_014929.3(FASTKD2):c.*672T>A http://identifiers.org/clinvar/333419 ^@ NM_032977.3(CASP10):c.347+8C>T http://identifiers.org/clinvar/333869 ^@ NM_006891.3(CRYGD):c.376G>A (p.Val126Met) http://identifiers.org/clinvar/333569 ^@ NM_001044385.2(TMEM237):c.-126G>A http://identifiers.org/clinvar/333669 ^@ NM_001204.6(BMPR2):c.*1268_*1269delCT http://identifiers.org/clinvar/337077 ^@ NM_004082.4(DCTN1):c.3185G>A (p.Gly1062Asp) http://identifiers.org/clinvar/337227 ^@ NM_000821.6(GGCX):c.*1721G>A http://identifiers.org/clinvar/342357 ^@ NM_016247.3(IMPG2):c.335-13C>T http://identifiers.org/clinvar/342407 ^@ NM_000551.3(VHL):c.*294G>A http://identifiers.org/clinvar/337127 ^@ NM_013247.4(HTRA2):c.215T>C (p.Leu72Pro) http://identifiers.org/clinvar/342657 ^@ NM_020754.3(ARHGAP31):c.2359C>T (p.Pro787Ser) http://identifiers.org/clinvar/337277 ^@ NM_000821.6(GGCX):c.189C>T (p.Ser63=) http://identifiers.org/clinvar/337327 ^@ NM_003896.3(ST3GAL5):c.*363A>C http://identifiers.org/clinvar/337427 ^@ NM_004836.6(EIF2AK3):c.-263T>C http://identifiers.org/clinvar/337477 ^@ NM_017849.3(TMEM127):c.*1784C>T http://identifiers.org/clinvar/337577 ^@ NM_020184.3(CNNM4):c.78G>A (p.Leu26=) http://identifiers.org/clinvar/337627 ^@ NM_001079.3(ZAP70):c.156C>T (p.His52=) http://identifiers.org/clinvar/342307 ^@ NM_016247.3(IMPG2):c.*1282C>T http://identifiers.org/clinvar/342707 ^@ NM_020754.3(ARHGAP31):c.*1978T>A http://identifiers.org/clinvar/342757 ^@ NM_000187.3(HGD):c.-163C>G http://identifiers.org/clinvar/344096 ^@ NM_000055.3(BCHE):c.435_436insG (p.Phe146Valfs) http://identifiers.org/clinvar/354462 ^@ NM_004385.4(VCAN):c.9124G>A (p.Asp3042Asn) http://identifiers.org/clinvar/350586 ^@ NM_001182.4(ALDH7A1):c.313-15G>A http://identifiers.org/clinvar/350786 ^@ NM_001999.3(FBN2):c.2214A>T (p.Gly738=) http://identifiers.org/clinvar/354712 ^@ NM_001491.2(GCNT2):c.*104A>G http://identifiers.org/clinvar/354912 ^@ NM_007214.4(SEC63):c.340-8_340-7delTT http://identifiers.org/clinvar/351036 ^@ NM_001369.2(DNAH5):c.11694G>T (p.Leu3898Phe) http://identifiers.org/clinvar/350986 ^@ NM_017415.2(KLHL3):c.1401C>A (p.Thr467=) http://identifiers.org/clinvar/358202 ^@ NM_183050.3(BCKDHB):c.*1241A>G http://identifiers.org/clinvar/351236 ^@ NM_002109.5(HARS):c.951+15G>T http://identifiers.org/clinvar/355313 ^@ NM_000426.3(LAMA2):c.*207_*210dupATTT http://identifiers.org/clinvar/351336 ^@ NM_001018077.1(NR3C1):c.*1628A>G http://identifiers.org/clinvar/355563 ^@ NM_000416.2(IFNGR1):c.84A>G (p.Ser28=) http://identifiers.org/clinvar/355613 ^@ NM_003764.3(STX11):c.*993C>T http://identifiers.org/clinvar/352025 ^@ NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) http://identifiers.org/clinvar/352223 ^@ NM_001135243.1(TCOF1):c.2970G>C (p.Ser990=) http://identifiers.org/clinvar/352373 ^@ NM_000337.5(SGCD):c.*3656G>T http://identifiers.org/clinvar/352523 ^@ NM_001099287.1(NIPAL4):c.1289C>T (p.Pro430Leu) http://identifiers.org/clinvar/356602 ^@ NM_005943.5(MOCS1):c.*2201T>A http://identifiers.org/clinvar/352573 ^@ NM_002187.2(IL12B):c.863G>C (p.Arg288Thr) http://identifiers.org/clinvar/352423 ^@ NM_000337.5(SGCD):c.*6564T>C http://identifiers.org/clinvar/352773 ^@ NM_001017995.2(SH3PXD2B):c.*1346G>A http://identifiers.org/clinvar/352673 ^@ NM_001034850.2(RETREG1):c.*1170A>G http://identifiers.org/clinvar/352723 ^@ NM_012188.4(FOXI1):c.*986G>C http://identifiers.org/clinvar/357052 ^@ NM_020745.3(AARS2):c.*262T>C http://identifiers.org/clinvar/352823 ^@ NM_001017995.2(SH3PXD2B):c.453C>T (p.Pro151=) http://identifiers.org/clinvar/357302 ^@ NM_003221.3(TFAP2B):c.*910_*911insC http://identifiers.org/clinvar/360801 ^@ NM_000443.3(ABCB4):c.1784G>A (p.Arg595Gln) http://identifiers.org/clinvar/357352 ^@ NM_003221.3(TFAP2B):c.*4165G>T http://identifiers.org/clinvar/357402 ^@ NM_138694.3(PKHD1):c.12038G>A (p.Gly4013Asp) http://identifiers.org/clinvar/361001 ^@ NM_014251.2(SLC25A13):c.*729G>A http://identifiers.org/clinvar/357552 ^@ NM_001723.5(DST):c.6877C>T (p.Pro2293Ser) http://identifiers.org/clinvar/357602 ^@ NM_001723.5(DST):c.2353-11C>T http://identifiers.org/clinvar/353523 ^@ NM_002310.5(LIFR):c.*6190C>T http://identifiers.org/clinvar/361301 ^@ NM_178857.5(RP1L1):c.3955G>A (p.Ala1319Thr) http://identifiers.org/clinvar/361351 ^@ NM_178857.5(RP1L1):c.2319G>A (p.Pro773=) http://identifiers.org/clinvar/358052 ^@ NM_004999.3(MYO6):c.*3940T>C http://identifiers.org/clinvar/358102 ^@ NM_181714.3(LCA5):c.859-12G>C http://identifiers.org/clinvar/364000 ^@ NM_177965.3(C8orf37):c.450G>A (p.Ser150=) http://identifiers.org/clinvar/361101 ^@ NM_017890.4(VPS13B):c.*250_*252dupACA http://identifiers.org/clinvar/364050 ^@ NM_001001557.3(GDF6):c.499C>T (p.Arg167Trp) http://identifiers.org/clinvar/307786 ^@ NM_006205.2(PDE6H):c.*134G>A http://identifiers.org/clinvar/365039 ^@ NM_138361.5(LRSAM1):c.*501C>T http://identifiers.org/clinvar/307986 ^@ NM_021957.3(GYS2):c.2055T>C (p.Phe685=) http://identifiers.org/clinvar/308036 ^@ NM_005691.3(ABCC9):c.2238-16delC http://identifiers.org/clinvar/308136 ^@ NM_000719.6(CACNA1C):c.1734G>A (p.Leu578=) http://identifiers.org/clinvar/301192 ^@ NM_000429.2(MAT1A):c.170-12G>A http://identifiers.org/clinvar/364989 ^@ NM_002316.3(LMX1B):c.*4127C>T http://identifiers.org/clinvar/308286 ^@ NM_139241.3(FGD4):c.398A>G (p.Asp133Gly) http://identifiers.org/clinvar/301142 ^@ NM_001002295.1(GATA3):c.*664C>T http://identifiers.org/clinvar/301292 ^@ NM_033100.3(CDHR1):c.*1356A>G http://identifiers.org/clinvar/301542 ^@ NM_000043.5(FAS):c.*853C>T http://identifiers.org/clinvar/365639 ^@ NM_000787.3(DBH):c.533G>A (p.Arg178Gln) http://identifiers.org/clinvar/365689 ^@ NM_000787.3(DBH):c.*401C>T http://identifiers.org/clinvar/308875 ^@ NM_001017535.1(VDR):c.1134G>T (p.Leu378=) http://identifiers.org/clinvar/365289 ^@ NM_007171.3(POMT1):c.*274T>A http://identifiers.org/clinvar/365339 ^@ NM_015046.5(SETX):c.7814G>A (p.Arg2605Gln) http://identifiers.org/clinvar/308975 ^@ NM_003482.3(KMT2D):c.*1982delT http://identifiers.org/clinvar/309125 ^@ NM_000217.2(KCNA1):c.-968C>T http://identifiers.org/clinvar/301792 ^@ NM_138413.3(HOGA1):c.700+7C>T http://identifiers.org/clinvar/309225 ^@ NM_000217.2(KCNA1):c.*5191G>A http://identifiers.org/clinvar/365489 ^@ NM_000368.4(TSC1):c.*824C>T http://identifiers.org/clinvar/309275 ^@ NM_000486.5(AQP2):c.*3190G>A http://identifiers.org/clinvar/365739 ^@ NM_000093.4(COL5A1):c.*58C>T http://identifiers.org/clinvar/302042 ^@ NM_001080463.1(DYNC2H1):c.5212G>A (p.Gly1738Ser) http://identifiers.org/clinvar/365789 ^@ NM_000093.4(COL5A1):c.*2252T>C http://identifiers.org/clinvar/302092 ^@ NM_001080463.1(DYNC2H1):c.10487G>T (p.Arg3496Leu) http://identifiers.org/clinvar/365890 ^@ NM_019892.5(INPP5E):c.813-8C>T http://identifiers.org/clinvar/309825 ^@ NM_000456.2(SUOX):c.-151G>C http://identifiers.org/clinvar/365990 ^@ NM_024757.4(EHMT1):c.150G>A (p.Ala50=) http://identifiers.org/clinvar/366090 ^@ NM_144966.5(FREM1):c.*456G>A http://identifiers.org/clinvar/366140 ^@ NM_144966.5(FREM1):c.2785G>T (p.Val929Leu) http://identifiers.org/clinvar/367029 ^@ NM_004170.5(SLC1A1):c.-185G>C http://identifiers.org/clinvar/312729 ^@ NM_000270.3(PNP):c.159C>A (p.Ile53=) http://identifiers.org/clinvar/313129 ^@ NM_001079668.2(NKX2-1):c.*460dupT http://identifiers.org/clinvar/314918 ^@ NM_004239.4(TRIP11):c.*345T>C http://identifiers.org/clinvar/314968 ^@ NM_004239.4(TRIP11):c.1527+6A>G http://identifiers.org/clinvar/313229 ^@ NM_020937.3(FANCM):c.6138T>G (p.Ser2046=) http://identifiers.org/clinvar/315018 ^@ NM_000295.4(SERPINA1):c.*316G>T http://identifiers.org/clinvar/313329 ^@ NM_002863.4(PYGL):c.773-13A>G http://identifiers.org/clinvar/315268 ^@ NM_139057.3(ADAMTS17):c.2364G>A (p.Ala788=) http://identifiers.org/clinvar/341657 ^@ NM_000026.3(ADSL):c.808C>T (p.Arg270Cys) http://identifiers.org/clinvar/341707 ^@ NM_022098.3(XPNPEP3):c.*1876A>G http://identifiers.org/clinvar/313479 ^@ NM_182914.2(SYNE2):c.-128A>T http://identifiers.org/clinvar/315368 ^@ NM_144599.4(NIPA1):c.*3008C>T http://identifiers.org/clinvar/341807 ^@ NM_001429.3(EP300):c.4598C>A (p.Thr1533Asn) http://identifiers.org/clinvar/313579 ^@ NM_182914.2(SYNE2):c.12739G>A (p.Glu4247Lys) http://identifiers.org/clinvar/315468 ^@ NM_000275.2(OCA2):c.1364+4C>T http://identifiers.org/clinvar/341957 ^@ NM_025225.2(PNPLA3):c.*889A>G http://identifiers.org/clinvar/342007 ^@ NM_018006.4(TRMU):c.461G>A (p.Arg154Gln) http://identifiers.org/clinvar/315668 ^@ NM_005159.4(ACTC1):c.*1039G>A http://identifiers.org/clinvar/313829 ^@ NM_002382.4(MAX):c.-110A>T http://identifiers.org/clinvar/315768 ^@ NM_152594.2(SPRED1):c.*3544G>A http://identifiers.org/clinvar/313929 ^@ NM_015346.3(ZFYVE26):c.361G>A (p.Glu121Lys) http://identifiers.org/clinvar/313979 ^@ NM_000021.3(PSEN1):c.*2160C>T http://identifiers.org/clinvar/367808 ^@ NM_001167.3(XIAP):c.*1958G>A http://identifiers.org/clinvar/367858 ^@ NM_001167.3(XIAP):c.*6216G>A http://identifiers.org/clinvar/367908 ^@ NM_194277.2(FRMD7):c.1473G>T (p.Met491Ile) http://identifiers.org/clinvar/314129 ^@ NM_031427.3(DNAL1):c.*6248G>A http://identifiers.org/clinvar/368208 ^@ NM_004006.2(DMD):c.*1638A>G http://identifiers.org/clinvar/324003 ^@ NM_005220.2(DLX3):c.*1272T>C http://identifiers.org/clinvar/368308 ^@ NM_006915.2(RP2):c.650A>G (p.Asn217Ser) http://identifiers.org/clinvar/368508 ^@ NM_000084.4(CLCN5):c.*2557A>G http://identifiers.org/clinvar/324260 ^@ NM_018488.3(TBX4):c.1155G>A (p.Glu385=) http://identifiers.org/clinvar/324362 ^@ NM_000789.3(ACE):c.383G>A (p.Gly128Asp) http://identifiers.org/clinvar/314668 ^@ NM_004863.3(SPTLC2):c.1428T>G (p.Pro476=) http://identifiers.org/clinvar/368708 ^@ NM_153252.4(BRWD3):c.*2626C>T http://identifiers.org/clinvar/314718 ^@ NM_000369.2(TSHR):c.*1317C>A http://identifiers.org/clinvar/314768 ^@ NM_000153.3(GALC):c.-67T>G http://identifiers.org/clinvar/317608 ^@ NM_000875.4(IGF1R):c.*5565A>G http://identifiers.org/clinvar/325251 ^@ NM_199242.2(UNC13D):c.2368-5C>T http://identifiers.org/clinvar/325301 ^@ NM_004035.6(ACOX1):c.*4590G>A http://identifiers.org/clinvar/325351 ^@ NM_004035.6(ACOX1):c.*1023A>C http://identifiers.org/clinvar/317708 ^@ NM_000246.3(CIITA):c.2342C>T (p.Ser781Leu) http://identifiers.org/clinvar/315868 ^@ NM_144508.4(KNL1):c.5433A>T (p.Ile1811=) http://identifiers.org/clinvar/317758 ^@ NM_004862.3(LITAF):c.*1170A>G http://identifiers.org/clinvar/315968 ^@ NM_173500.3(TTBK2):c.*604T>C http://identifiers.org/clinvar/317858 ^@ NM_005236.2(ERCC4):c.*2588A>G http://identifiers.org/clinvar/316018 ^@ NM_000119.2(EPB42):c.1165+7C>A http://identifiers.org/clinvar/316118 ^@ NM_025137.3(SPG11):c.64A>G (p.Met22Val) http://identifiers.org/clinvar/318058 ^@ NM_014714.3(IFT140):c.2423C>T (p.Ala808Val) http://identifiers.org/clinvar/374171 ^@ NM_133433.3(NIPBL):c.1810_1811delTC (p.Ser604Terfs) http://identifiers.org/clinvar/374021 ^@ NM_000550.2(TYRP1):c.670C>T (p.His224Tyr) http://identifiers.org/clinvar/374071 ^@ NM_025137.3(SPG11):c.3785G>T (p.Gly1262Val) http://identifiers.org/clinvar/374121 ^@ NM_004586.2(RPS6KA3):c.533C>G (p.Ala178Gly) http://identifiers.org/clinvar/374225 ^@ NM_001256182.1(ANKRD11):c.6218delC (p.Pro2073Argfs) http://identifiers.org/clinvar/374295 ^@ NM_004817.3(TJP2):c.1243delT (p.Ser415Leufs) http://identifiers.org/clinvar/374345 ^@ NM_004530.5(MMP2):c.539A>T (p.Asp180Val) http://identifiers.org/clinvar/374411 ^@ NC_000023.10:g.135533330_136123779dup590450 http://identifiers.org/clinvar/374463 ^@ NM_003573.2(LTBP4):c.231-3C>G http://identifiers.org/clinvar/374513 ^@ NM_024110.4(CARD14):c.1728G>A (p.Gly576=) http://identifiers.org/clinvar/374563 ^@ NM_020822.2(KCNT1):c.567G>A (p.Leu189=) http://identifiers.org/clinvar/374613 ^@ NM_001003791.2(ERLIN2):c.237-1G>A http://identifiers.org/clinvar/374663 ^@ NM_002921.3(RGR):c.230T>G (p.Leu77Arg) http://identifiers.org/clinvar/374713 ^@ NM_001845.5(COL4A1):c.3133G>A (p.Ala1045Thr) http://identifiers.org/clinvar/374763 ^@ NM_004370.5(COL12A1):c.4000+4C>G http://identifiers.org/clinvar/374823 ^@ NM_000141.4(FGFR2):c.1694A>G (p.Glu565Gly) http://identifiers.org/clinvar/374873 ^@ NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter) http://identifiers.org/clinvar/374940 ^@ NM_000055.3(BCHE):c.1330G>A (p.Ala444Thr) http://identifiers.org/clinvar/374992 ^@ NM_138393.2(REEP6):c.383C>T (p.Pro128Leu) http://identifiers.org/clinvar/375325 ^@ NM_023073.3(C5orf42):c.6968A>C (p.Gln2323Pro) http://identifiers.org/clinvar/375271 ^@ NM_133450.3(ANKS3):c.439C>A (p.His147Asn) http://identifiers.org/clinvar/375376 ^@ NM_001039803.2(CDK20):c.564G>A (p.Trp188Ter) http://identifiers.org/clinvar/375431 ^@ NM_001453.2(FOXC1):c.1265C>A (p.Ser422Ter) http://identifiers.org/clinvar/375500 ^@ NM_001005463.2(EBF3):c.488G>C (p.Arg163Pro) http://identifiers.org/clinvar/375550 ^@ NM_153816.5(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570Phefs) http://identifiers.org/clinvar/375617 ^@ NM_020699.3(GATAD2B):c.1154A>G (p.Asn385Ser) http://identifiers.org/clinvar/375668 ^@ NM_000492.3(CFTR):c.3718-2477C>G http://identifiers.org/clinvar/375762 ^@ NM_015295.2(SMCHD1):c.423G>C (p.Leu141Phe) http://identifiers.org/clinvar/375812 ^@ NM_000527.4(LDLR):c.1256A>G (p.Tyr419Cys) http://identifiers.org/clinvar/375862 ^@ NM_001040113.1(MYH11):c.5197G>A (p.Ala1733Thr) http://identifiers.org/clinvar/392497 ^@ NM_138395.3(MARS2):c.801G>C (p.Pro267=) http://identifiers.org/clinvar/391447 ^@ NM_015120.4(ALMS1):c.474T>C (p.Cys158=) http://identifiers.org/clinvar/393236 ^@ NM_005862.2(STAG1):c.1150G>C (p.Asp384His) http://identifiers.org/clinvar/382216 ^@ NM_001039550.1(DNAJB2):c.-37+20T>G http://identifiers.org/clinvar/377922 ^@ NM_024996.5(GFM1):c.1764+11A>T http://identifiers.org/clinvar/386659 ^@ NM_006070.5(TFG):c.258G>T (p.Leu86=) http://identifiers.org/clinvar/381865 ^@ NM_182916.2(TRNT1):c.231T>C (p.Asp77=) http://identifiers.org/clinvar/386209 ^@ NM_000551.3(VHL):c.-13G>T http://identifiers.org/clinvar/377472 ^@ NM_001148.4(ANK2):c.2010G>A (p.Ser670=) http://identifiers.org/clinvar/385409 ^@ NM_000387.5(SLC25A20):c.844-19C>T http://identifiers.org/clinvar/383969 ^@ NM_033337.2(CAV3):c.114+8C>G http://identifiers.org/clinvar/387348 ^@ NM_015120.4(ALMS1):c.2538C>T (p.Asp846=) http://identifiers.org/clinvar/383117 ^@ NM_032446.2(MEGF10):c.2857-8T>G http://identifiers.org/clinvar/383769 ^@ NM_015120.4(ALMS1):c.6215T>C (p.Ile2072Thr) http://identifiers.org/clinvar/377872 ^@ NM_001999.3(FBN2):c.7961-10G>A http://identifiers.org/clinvar/383067 ^@ NM_024592.4(SRD5A3):c.447C>T (p.Tyr149=) http://identifiers.org/clinvar/386409 ^@ NM_000038.5(APC):c.3837T>G (p.Ser1279=) http://identifiers.org/clinvar/385809 ^@ NM_020117.10(LARS):c.2208A>G (p.Ala736=) http://identifiers.org/clinvar/378274 ^@ NM_133433.3(NIPBL):c.1979A>G (p.Glu660Gly) http://identifiers.org/clinvar/392297 ^@ NM_023073.3(C5orf42):c.1270C>T (p.Arg424Ter) http://identifiers.org/clinvar/391897 ^@ NM_080680.2(COL11A2):c.3289A>C (p.Thr1097Pro) http://identifiers.org/clinvar/390647 ^@ NM_006073.3(TRDN):c.1537+17C>T http://identifiers.org/clinvar/379922 ^@ NM_178012.4(TUBB2B):c.1189T>C (p.Trp397Arg) http://identifiers.org/clinvar/379571 ^@ NM_033071.3(SYNE1):c.18469C>T (p.Gln6157Ter) http://identifiers.org/clinvar/391647 ^@ NM_018718.2(CEP41):c.754G>A (p.Gly252Arg) http://identifiers.org/clinvar/381514 ^@ NM_000038.5(APC):c.1312+12A>G http://identifiers.org/clinvar/391697 ^@ NM_000742.3(CHRNA2):c.1039G>A (p.Val347Ile) http://identifiers.org/clinvar/379721 ^@ NM_018972.2(GDAP1):c.-20C>T http://identifiers.org/clinvar/382416 ^@ NM_016035.4(COQ4):c.149C>G (p.Ala50Gly) http://identifiers.org/clinvar/383618 ^@ NM_020822.2(KCNT1):c.-38C>T http://identifiers.org/clinvar/391847 ^@ NM_018444.3(PDP1):c.1263G>A (p.Trp421Ter) http://identifiers.org/clinvar/385709 ^@ NM_000445.4(PLEC):c.2589G>A (p.Pro863=) http://identifiers.org/clinvar/391397 ^@ NM_017617.4(NOTCH1):c.927C>T (p.Gly309=) http://identifiers.org/clinvar/391097 ^@ NM_002485.4(NBN):c.2217T>C (p.Leu739=) http://identifiers.org/clinvar/382767 ^@ NM_001079802.1(FKTN):c.855G>A (p.Ala285=) http://identifiers.org/clinvar/386459 ^@ NM_001003800.1(BICD2):c.2307G>A (p.Ala769=) http://identifiers.org/clinvar/379521 ^@ NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) http://identifiers.org/clinvar/386559 ^@ NM_000264.3(PTCH1):c.-18G>A http://identifiers.org/clinvar/382867 ^@ NM_020822.2(KCNT1):c.1395G>A (p.Thr465=) http://identifiers.org/clinvar/377772 ^@ NM_000108.4(DLD):c.282C>T (p.Asn94=) http://identifiers.org/clinvar/382266 ^@ NM_006393.2(NEBL):c.792G>A (p.Ala264=) http://identifiers.org/clinvar/133011 ^@ NM_000540.2(RYR1):c.11266C>G (p.Gln3756Glu) http://identifiers.org/clinvar/133061 ^@ NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln) http://identifiers.org/clinvar/133111 ^@ NM_000540.2(RYR1):c.2121C>A (p.Gly707=) http://identifiers.org/clinvar/133161 ^@ NM_000540.2(RYR1):c.6544A>T (p.Ile2182Phe) http://identifiers.org/clinvar/133211 ^@ NM_000540.2(RYR1):c.7771C>T (p.Arg2591Trp) http://identifiers.org/clinvar/133503 ^@ NM_152424.3(AMER1):c.908G>A (p.Gly303Asp) http://identifiers.org/clinvar/133554 ^@ NM_006015.4(ARID1A):c.5248T>A (p.Phe1750Ile) http://identifiers.org/clinvar/133604 ^@ NM_000051.3(ATM):c.1636C>G (p.Leu546Val) http://identifiers.org/clinvar/133654 ^@ NM_000489.4(ATRX):c.1825C>G (p.Pro609Ala) http://identifiers.org/clinvar/133704 ^@ NM_000057.3(BLM):c.4069G>C (p.Ala1357Pro) http://identifiers.org/clinvar/133758 ^@ NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) http://identifiers.org/clinvar/133808 ^@ NM_005188.3(CBL):c.2125C>T (p.Arg709Trp) http://identifiers.org/clinvar/133858 ^@ NM_015083.2(CDK12):c.3569C>G (p.Pro1190Arg) http://identifiers.org/clinvar/133908 ^@ NM_015125.4(CIC):c.3310T>A (p.Ser1104Thr) http://identifiers.org/clinvar/133958 ^@ NM_015247.2(CYLD):c.988G>C (p.Gly330Arg) http://identifiers.org/clinvar/134008 ^@ NM_001077706.2(ECT2L):c.437T>C (p.Ile146Thr) http://identifiers.org/clinvar/134060 ^@ NM_001429.3(EP300):c.6950G>A (p.Arg2317Gln) http://identifiers.org/clinvar/134110 ^@ NM_000400.3(ERCC2):c.1195C>T (p.Leu399Phe) http://identifiers.org/clinvar/134160 ^@ NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) http://identifiers.org/clinvar/134210 ^@ NM_000401.3(EXT2):c.522C>G (p.Asp174Glu) http://identifiers.org/clinvar/134260 ^@ NM_000135.2(FANCA):c.2681G>A (p.Arg894Lys) http://identifiers.org/clinvar/134311 ^@ NM_001018115.2(FANCD2):c.1367T>G (p.Leu456Arg) http://identifiers.org/clinvar/134362 ^@ NM_004629.1(FANCG):c.1852_1853delAA (p.Lys618Valfs) http://identifiers.org/clinvar/134412 ^@ NM_000143.3(FH):c.37C>G (p.Pro13Ala) http://identifiers.org/clinvar/134462 ^@ NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) http://identifiers.org/clinvar/134612 ^@ NM_002253.2(KDR):c.724C>T (p.Leu242Phe) http://identifiers.org/clinvar/134664 ^@ NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) http://identifiers.org/clinvar/134715 ^@ NM_003482.3(KMT2D):c.10987G>A (p.Ala3663Thr) http://identifiers.org/clinvar/134765 ^@ NM_170606.2(KMT2C):c.6667G>A (p.Ala2223Thr) http://identifiers.org/clinvar/134815 ^@ NM_170606.2(KMT2C):c.13522C>T (p.Pro4508Ser) http://identifiers.org/clinvar/134869 ^@ NM_001172567.1(MYD88):c.31C>G (p.Pro11Ala) http://identifiers.org/clinvar/134919 ^@ NM_017617.4(NOTCH1):c.2542G>A (p.Glu848Lys) http://identifiers.org/clinvar/136040 ^@ NM_002485.4(NBN):c.19G>A (p.Ala7Thr) http://identifiers.org/clinvar/136091 ^@ NM_007294.3(BRCA1):c.765G>A (p.Glu255=) http://identifiers.org/clinvar/136141 ^@ NM_032043.2(BRIP1):c.1207C>T (p.Arg403Trp) http://identifiers.org/clinvar/136201 ^@ NM_130838.1(UBE3A):c.1694-2A>G http://identifiers.org/clinvar/136252 ^@ NM_014049.4(ACAD9):c.787T>C (p.Leu263=) http://identifiers.org/clinvar/187395 ^@ NM_007294.3(BRCA1):c.4775A>G (p.Asn1592Ser) http://identifiers.org/clinvar/187745 ^@ NM_032043.2(BRIP1):c.1192A>G (p.Ile398Val) http://identifiers.org/clinvar/186795 ^@ NM_032043.2(BRIP1):c.550G>A (p.Asp184Asn) http://identifiers.org/clinvar/187045 ^@ NM_032043.2(BRIP1):c.438_440delATAinsCT (p.Tyr147Serfs) http://identifiers.org/clinvar/186594 ^@ NM_000546.5(TP53):c.431A>C (p.Gln144Pro) http://identifiers.org/clinvar/187495 ^@ NM_007194.3(CHEK2):c.797C>T (p.Pro266Leu) http://identifiers.org/clinvar/187799 ^@ NM_005215.3(DCC):c.2871_2875dupAGGGA (p.Pro960Glyfs) http://identifiers.org/clinvar/187878 ^@ NM_005957.4(MTHFR):c.643_645delAAG (p.Lys215del) http://identifiers.org/clinvar/187928 ^@ NM_004409.4(DMPK):c.*224_*226[168] http://identifiers.org/clinvar/187978 ^@ NM_004409.4(DMPK):c.*224_*226[407] http://identifiers.org/clinvar/188078 ^@ NM_020975.4(RET):c.972G>C (p.Trp324Cys) http://identifiers.org/clinvar/189089 ^@ NM_000182.4(HADHA):c.1981_1999del19 (p.Leu661Serfs) http://identifiers.org/clinvar/189039 ^@ NM_000441.1(SLC26A4):c.1001G>T (p.Gly334Val) http://identifiers.org/clinvar/188837 ^@ NM_000035.3(ALDOB):c.625-2A>G http://identifiers.org/clinvar/189139 ^@ NM_000053.3(ATP7B):c.3818C>T (p.Pro1273Leu) http://identifiers.org/clinvar/188938 ^@ NM_000053.3(ATP7B):c.778dupC (p.Gln260Profs) http://identifiers.org/clinvar/188888 ^@ NM_000049.2(ASPA):c.79G>A (p.Gly27Arg) http://identifiers.org/clinvar/188988 ^@ NM_000071.2(CBS):c.233C>G (p.Pro78Arg) http://identifiers.org/clinvar/189189 ^@ NM_000390.3(CHM):c.116+1G>A http://identifiers.org/clinvar/189256 ^@ NM_032790.3(ORAI1):c.292G>A (p.Gly98Ser) http://identifiers.org/clinvar/189309 ^@ NM_012108.3(STAP1):c.139A>G (p.Thr47Ala) http://identifiers.org/clinvar/189457 ^@ NM_000314.6(PTEN):c.-25T>C http://identifiers.org/clinvar/189579 ^@ NM_003159.2(CDKL5):c.-253_825+?del http://identifiers.org/clinvar/189729 ^@ NM_004992.3(MECP2):c.855_859delGAAAGinsAAAAAAAAGACT (p.Ala287Lysfs) http://identifiers.org/clinvar/189629 ^@ NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) http://identifiers.org/clinvar/189679 ^@ NM_004992.3(MECP2):c.249_250ins7 http://identifiers.org/clinvar/189529 ^@ NM_003159.2(CDKL5):c.*130_*131delinsAT http://identifiers.org/clinvar/189779 ^@ NM_021098.2(CACNA1H):c.4645A>G (p.Met1549Val) http://identifiers.org/clinvar/190013 ^@ NM_001165963.1(SCN1A):c.3818C>T (p.Ala1273Val) http://identifiers.org/clinvar/189863 ^@ NM_001165963.1(SCN1A):c.2588T>G (p.Leu863Trp) http://identifiers.org/clinvar/189913 ^@ NM_001165963.1(SCN1A):c.1146C>A (p.Asp382Glu) http://identifiers.org/clinvar/189963 ^@ NM_001165963.1(SCN1A):c.1129C>T (p.Arg377Ter) http://identifiers.org/clinvar/190148 ^@ NM_000124.3(ERCC6):c.1850dupG (p.Cys617Trpfs) http://identifiers.org/clinvar/190198 ^@ NM_001110556.1(FLNA):c.4935C>A (p.Cys1645Ter) http://identifiers.org/clinvar/190254 ^@ NM_198994.2(TGM6):c.1722_1724delAGA (p.Glu574del) http://identifiers.org/clinvar/228994 ^@ NM_004999.3(MYO6):c.3367A>G (p.Asn1123Asp) http://identifiers.org/clinvar/228694 ^@ NM_021167.4(GATAD1):c.249+2T>C http://identifiers.org/clinvar/229344 ^@ NM_001128228.2(TPRN):c.2083G>A (p.Ala695Thr) http://identifiers.org/clinvar/229194 ^@ NM_001134363.2(RBM20):c.2727_2741delGACAGTGGACGAGGT (p.Thr910_Val914del) http://identifiers.org/clinvar/229044 ^@ NM_006393.2(NEBL):c.2329C>T (p.Gln777Ter) http://identifiers.org/clinvar/229244 ^@ NM_005411.4(SFTPA1):c.135C>G (p.Asp45Glu) http://identifiers.org/clinvar/228794 ^@ NM_007078.2(LDB3):c.-15G>A http://identifiers.org/clinvar/229294 ^@ NM_005422.2(TECTA):c.2575G>A (p.Glu859Lys) http://identifiers.org/clinvar/227554 ^@ NM_002458.2(MUC5B):c.2478+8C>A http://identifiers.org/clinvar/226872 ^@ NM_001277269.1(OTOG):c.273C>T (p.Ser91=) http://identifiers.org/clinvar/229094 ^@ NM_001277269.1(OTOG):c.421G>A (p.Val141Met) http://identifiers.org/clinvar/226922 ^@ NM_001277269.1(OTOG):c.8578-8C>T http://identifiers.org/clinvar/229144 ^@ NM_004572.3(PKP2):c.159C>A (p.Ser53Arg) http://identifiers.org/clinvar/226972 ^@ NM_173591.3(OTOGL):c.6710A>G (p.Asn2237Ser) http://identifiers.org/clinvar/228744 ^@ NM_006644.3(HSPH1):c.1030G>T (p.Ala344Ser) http://identifiers.org/clinvar/226622 ^@ NM_000115.4(EDNRB):c.831A>G (p.Leu277=) http://identifiers.org/clinvar/228894 ^@ NM_002471.3(MYH6):c.4207G>A (p.Glu1403Lys) http://identifiers.org/clinvar/228544 ^@ NM_001330.3(CTF1):c.469G>A (p.Ala157Thr) http://identifiers.org/clinvar/226572 ^@ NM_178452.5(DNAAF1):c.1178A>G (p.Lys393Arg) http://identifiers.org/clinvar/228944 ^@ NM_016239.3(MYO15A):c.2015C>G (p.Ser672Cys) http://identifiers.org/clinvar/227654 ^@ NM_016239.3(MYO15A):c.9123C>G (p.Ser3041=) http://identifiers.org/clinvar/227704 ^@ NM_003803.3(MYOM1):c.4776C>G (p.Leu1592=) http://identifiers.org/clinvar/226822 ^@ NM_003803.3(MYOM1):c.4222G>A (p.Asp1408Asn) http://identifiers.org/clinvar/226722 ^@ NM_003573.2(LTBP4):c.3417G>A (p.Val1139=) http://identifiers.org/clinvar/228844 ^@ NM_001042544.1(LTBP4):c.4549G>C (p.Glu1517Gln) http://identifiers.org/clinvar/226522 ^@ NM_006012.2(CLPP):c.-5G>A http://identifiers.org/clinvar/227604 ^@ NM_002473.5(MYH9):c.2565G>A (p.Val855=) http://identifiers.org/clinvar/228594 ^@ NM_004006.2(DMD):c.7397T>C (p.Met2466Thr) http://identifiers.org/clinvar/234722 ^@ NM_018136.4(ASPM):c.3056G>A (p.Arg1019Gln) http://identifiers.org/clinvar/234622 ^@ NM_000179.2(MSH6):c.2906A>G (p.Tyr969Cys) http://identifiers.org/clinvar/234521 ^@ NM_000249.3(MLH1):c.1039-3C>T http://identifiers.org/clinvar/234772 ^@ NM_000249.3(MLH1):c.1245T>G (p.Asp415Glu) http://identifiers.org/clinvar/234572 ^@ NM_000535.6(PMS2):c.535_537delAAG (p.Lys179del) http://identifiers.org/clinvar/234672 ^@ NM_000136.2(FANCC):c.1634A>G (p.Lys545Arg) http://identifiers.org/clinvar/234822 ^@ NM_000136.2(FANCC):c.251A>G (p.Asp84Gly) http://identifiers.org/clinvar/234470 ^@ NM_000059.3(BRCA2):c.4522G>C (p.Gly1508Arg) http://identifiers.org/clinvar/234873 ^@ NM_007194.3(CHEK2):c.1028T>G (p.Ile343Ser) http://identifiers.org/clinvar/229696 ^@ NM_000465.3(BARD1):c.493A>T (p.Thr165Ser) http://identifiers.org/clinvar/233496 ^@ NM_000179.2(MSH6):c.1557G>C (p.Lys519Asn) http://identifiers.org/clinvar/233096 ^@ NM_000249.3(MLH1):c.1091_1093delCAA (p.Thr364del) http://identifiers.org/clinvar/265009 ^@ NM_000350.2(ABCA4):c.664delG (p.Ala222Glnfs) http://identifiers.org/clinvar/265467 ^@ NM_001298.2(CNGA3):c.1688G>A (p.Arg563His) http://identifiers.org/clinvar/265618 ^@ NM_001041.3(SI):c.5110C>T (p.Arg1704Ter) http://identifiers.org/clinvar/265266 ^@ NR_001566.1(TERC):n.381G>A http://identifiers.org/clinvar/265162 ^@ NM_000806.5(GABRA1):c.641G>A (p.Arg214His) http://identifiers.org/clinvar/265062 ^@ NM_023073.3(C5orf42):c.3577C>T (p.Arg1193Cys) http://identifiers.org/clinvar/265517 ^@ NM_020732.3(ARID1B):c.6095C>T (p.Ser2032Phe) http://identifiers.org/clinvar/265214 ^@ NM_194456.1(KRIT1):c.152_155delAAGT (p.Lys51Ilefs) http://identifiers.org/clinvar/265317 ^@ NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) http://identifiers.org/clinvar/265568 ^@ NM_000051.3(ATM):c.3435_3436delTGinsA (p.Asp1145Glufs) http://identifiers.org/clinvar/265367 ^@ NM_000051.3(ATM):c.7066_7081del16 (p.Ile2356Terfs) http://identifiers.org/clinvar/265668 ^@ NM_030665.3(RAI1):c.1690_1691delAT (p.Met564Valfs) http://identifiers.org/clinvar/265417 ^@ NM_000533.4(PLP1):c.607G>A (p.Asp203Asn) http://identifiers.org/clinvar/265112 ^@ NM_001399.4(EDA):c.1069C>T (p.Arg357Trp) http://identifiers.org/clinvar/265750 ^@ NM_024818.4(UBA5):c.904C>T (p.Gln302Ter) http://identifiers.org/clinvar/265855 ^@ NM_002887.3:c.1846-1847delTA http://identifiers.org/clinvar/265907 ^@ NM_000527.4(LDLR):c.2389+46C>T http://identifiers.org/clinvar/265960 ^@ NM_000050.4(ASS1):c.257G>A (p.Arg86His) http://identifiers.org/clinvar/266089 ^@ NM_033028.4(BBS4):c.172C>T (p.Gln58Ter) http://identifiers.org/clinvar/267178 ^@ NM_000059.3(BRCA2):c.995_996insA (p.His334Profs) http://identifiers.org/clinvar/266978 ^@ NM_000059.3(BRCA2):c.6999_7000insT (p.Pro2334Serfs) http://identifiers.org/clinvar/267028 ^@ NM_000059.3(BRCA2):c.7643_7644delAT (p.His2548Leufs) http://identifiers.org/clinvar/267078 ^@ NM_000059.3(BRCA2):c.8385delT (p.Pro2796Leufs) http://identifiers.org/clinvar/267128 ^@ NM_000059.3(BRCA2):c.9017dupA (p.Tyr3006Terfs) http://identifiers.org/clinvar/266289 ^@ NM_007294.3(BRCA1):c.2652dupA (p.Phe885Ilefs) http://identifiers.org/clinvar/266239 ^@ NM_007294.3(BRCA1):c.2211dupA (p.Val738Serfs) http://identifiers.org/clinvar/266139 ^@ NM_007294.3(BRCA1):c.1140delG (p.Val382Leufs) http://identifiers.org/clinvar/266189 ^@ NM_007294.3(BRCA1):c.179dupA (p.Cys61Valfs) http://identifiers.org/clinvar/267248 ^@ NM_015247.2(CYLD):c.2291_2295delAACTA (p.Lys764Ilefs) http://identifiers.org/clinvar/267324 ^@ NC_000002.12:g.(?_32063826)_(32087584_?)del http://identifiers.org/clinvar/267396 ^@ c.5932G>T http://identifiers.org/clinvar/267479 ^@ NC_000016.9:g.(?_88165980)_(88914268_?)del http://identifiers.org/clinvar/267635 ^@ NM_000059.3(BRCA2):c.2402_2420del19 (p.Asn801Metfs) http://identifiers.org/clinvar/267685 ^@ NM_000059.3(BRCA2):c.7805+2T>G http://identifiers.org/clinvar/267535 ^@ NM_007294.3(BRCA1):c.4358-?_4986+?dup http://identifiers.org/clinvar/267585 ^@ NM_007294.3(BRCA1):c.5194-1G>T http://identifiers.org/clinvar/267735 ^@ NM_004380.2(CREBBP):c.3190G>A (p.Glu1064Lys) http://identifiers.org/clinvar/267814 ^@ 46;XY;inv(3)(p13q21)dn http://identifiers.org/clinvar/267865 ^@ 46;XY;t(2;11)(q31;q13.5)pat http://identifiers.org/clinvar/267915 ^@ 46;XX;t(2;3)(q34;p23) http://identifiers.org/clinvar/267965 ^@ 46;XX;t(1;5)(p32.1;q31.3) http://identifiers.org/clinvar/268015 ^@ 46;XY;t(1;14)(q42.1;q31.1)dn http://identifiers.org/clinvar/268068 ^@ NC_000022.10:g.(?_17012935)_(21431054_?)dup http://identifiers.org/clinvar/268131 ^@ NM_000121.3(EPOR):c.1316G>A (p.Trp439Ter) http://identifiers.org/clinvar/268199 ^@ NC_000023.10:g.(?_134757970)_(134905273_?)dup http://identifiers.org/clinvar/279611 ^@ NM_030813.5(CLPB):c.1915G>A (p.Glu639Lys) http://identifiers.org/clinvar/279823 ^@ NM_015074.3(KIF1B):c.1977+6205C>T http://identifiers.org/clinvar/292026 ^@ NM_138959.2(VANGL1):c.*634T>C http://identifiers.org/clinvar/293315 ^@ NM_000530.7(MPZ):c.-49C>A http://identifiers.org/clinvar/293415 ^@ NM_004431.4(EPHA2):c.2034A>G (p.Leu678=) http://identifiers.org/clinvar/293765 ^@ NM_022089.3(ATP13A2):c.3429C>T (p.Pro1143=) http://identifiers.org/clinvar/293015 ^@ NM_003126.2(SPTA1):c.2461C>A (p.Leu821Ile) http://identifiers.org/clinvar/293065 ^@ NM_003126.2(SPTA1):c.-121dupC http://identifiers.org/clinvar/293715 ^@ NM_000261.1(MYOC):c.648G>A (p.Lys216=) http://identifiers.org/clinvar/292965 ^@ NM_003126.2(SPTA1):c.5778C>T (p.Asp1926=) http://identifiers.org/clinvar/293815 ^@ NM_018122.4(DARS2):c.567G>A (p.Leu189=) http://identifiers.org/clinvar/293865 ^@ NM_033343.3(LHX4):c.451+15C>T http://identifiers.org/clinvar/293115 ^@ NM_002241.4(KCNJ10):c.*73C>T http://identifiers.org/clinvar/293915 ^@ NM_002065.6(GLUL):c.*1357T>G http://identifiers.org/clinvar/294015 ^@ NM_005562.2(LAMC2):c.3158T>A (p.Met1053Lys) http://identifiers.org/clinvar/293165 ^@ NM_000702.3(ATP1A2):c.*1212G>C http://identifiers.org/clinvar/293215 ^@ NM_002857.3(PEX19):c.*896A>G http://identifiers.org/clinvar/293265 ^@ NM_004550.4(NDUFS2):c.-218G>A http://identifiers.org/clinvar/294215 ^@ NM_031935.2(HMCN1):c.9685A>G (p.Met3229Val) http://identifiers.org/clinvar/293365 ^@ NM_003001.3(SDHC):c.*2141C>A http://identifiers.org/clinvar/293515 ^@ NM_006996.2(SLC19A2):c.*712dupT http://identifiers.org/clinvar/293465 ^@ NM_005149.2(TBX19):c.603+41_603+48dupGTGTGTGT http://identifiers.org/clinvar/293565 ^@ NM_000130.4(F5):c.*390C>T http://identifiers.org/clinvar/293615 ^@ NM_000130.4(F5):c.2925C>T (p.Pro975=) http://identifiers.org/clinvar/293665 ^@ NM_152281.2(GORAB):c.*222G>T http://identifiers.org/clinvar/295054 ^@ NM_005216.4(DDOST):c.*312G>A http://identifiers.org/clinvar/294954 ^@ NM_000537.3(REN):c.744C>A (p.Asp248Glu) http://identifiers.org/clinvar/295004 ^@ NM_032409.2(PINK1):c.1018G>A (p.Ala340Thr) http://identifiers.org/clinvar/293965 ^@ NM_002065.6(GLUL):c.-481A>G http://identifiers.org/clinvar/295154 ^@ NM_000228.2(LAMB3):c.-110G>A http://identifiers.org/clinvar/344496 ^@ NM_015560.2(OPA1):c.*623G>A http://identifiers.org/clinvar/344746 ^@ NM_015141.3(GPD1L):c.*987G>A http://identifiers.org/clinvar/344796 ^@ NM_000404.3(GLB1):c.4C>A (p.Pro2Thr) http://identifiers.org/clinvar/336827 ^@ NM_002056.3(GFPT1):c.*2720C>T http://identifiers.org/clinvar/344196 ^@ NM_198407.2(GHSR):c.*122C>T http://identifiers.org/clinvar/344296 ^@ NM_145261.3(DNAJC19):c.*188G>A http://identifiers.org/clinvar/336927 ^@ NM_001692.3(ATP6V1B1):c.1332C>T (p.Leu444=) http://identifiers.org/clinvar/345496 ^@ NM_024513.3(FYCO1):c.4078T>C (p.Phe1360Leu) http://identifiers.org/clinvar/336877 ^@ NM_002056.3(GFPT1):c.1440C>T (p.Ser480=) http://identifiers.org/clinvar/337177 ^@ NM_000821.6(GGCX):c.*4562G>A http://identifiers.org/clinvar/336977 ^@ NM_003494.3(DYSF):c.6058C>T (p.Arg2020Cys) http://identifiers.org/clinvar/337027 ^@ NM_015120.4(ALMS1):c.9081T>C (p.Asn3027=) http://identifiers.org/clinvar/344996 ^@ NM_001106.3(ACVR2B):c.*5002C>T http://identifiers.org/clinvar/337377 ^@ NM_022912.2(REEP1):c.*1026G>A http://identifiers.org/clinvar/345046 ^@ NM_001106.3(ACVR2B):c.*9317_*9318insT http://identifiers.org/clinvar/337527 ^@ NM_014014.4(SNRNP200):c.6025C>T (p.Arg2009Cys) http://identifiers.org/clinvar/346185 ^@ NM_052859.3(RFT1):c.1117C>T (p.Arg373Cys) http://identifiers.org/clinvar/345246 ^@ NM_016006.4(ABHD5):c.*1729T>G http://identifiers.org/clinvar/345346 ^@ NM_020208.3(SLC6A20):c.*3383C>T http://identifiers.org/clinvar/337677 ^@ NM_001298.2(CNGA3):c.*516T>C http://identifiers.org/clinvar/342257 ^@ NM_033084.4(FANCD2):c.491+10G>A http://identifiers.org/clinvar/345446 ^@ NM_024513.3(FYCO1):c.*3057G>A http://identifiers.org/clinvar/346585 ^@ NM_032682.5(FOXP1):c.*2473_*2482delTAAAAAAAAA http://identifiers.org/clinvar/346685 ^@ NM_002942.4(ROBO2):c.1284G>T (p.Thr428=) http://identifiers.org/clinvar/346785 ^@ NM_000158.3(GBE1):c.1909C>T (p.Arg637Ter) http://identifiers.org/clinvar/342457 ^@ NM_000551.3(VHL):c.*1990G>A http://identifiers.org/clinvar/342507 ^@ NM_000551.3(VHL):c.*3523T>G http://identifiers.org/clinvar/346935 ^@ NM_182896.2(ARL13B):c.*2207C>G http://identifiers.org/clinvar/342607 ^@ NM_000796.5(DRD3):c.-153T>G http://identifiers.org/clinvar/342557 ^@ NM_198196.2(CD96):c.*671T>C http://identifiers.org/clinvar/346235 ^@ NM_003392.4(WNT5A):c.*2276dupT http://identifiers.org/clinvar/346285 ^@ NM_003865.2(HESX1):c.220G>A (p.Val74Met) http://identifiers.org/clinvar/346335 ^@ NM_001457.3(FLNB):c.3608C>T (p.Thr1203Met) http://identifiers.org/clinvar/346435 ^@ NM_198859.3(PRICKLE2):c.*2856C>G http://identifiers.org/clinvar/346535 ^@ NM_000248.3(MITF):c.*2160delA http://identifiers.org/clinvar/346635 ^@ NM_032682.5(FOXP1):c.*476delC http://identifiers.org/clinvar/346735 ^@ NM_002942.4(ROBO2):c.*1435C>A http://identifiers.org/clinvar/343746 ^@ NG_011800.2:g.53841A>C http://identifiers.org/clinvar/346835 ^@ NM_000306.3(POU1F1):c.*138_*139dupTT http://identifiers.org/clinvar/346885 ^@ NM_000313.3(PROS1):c.1021G>A (p.Ala341Thr) http://identifiers.org/clinvar/362300 ^@ NM_006765.3(TUSC3):c.-167G>A http://identifiers.org/clinvar/362500 ^@ NM_005144.4(HR):c.2212G>A (p.Asp738Asn) http://identifiers.org/clinvar/354512 ^@ NM_002890.2(RASA1):c.829-12T>A http://identifiers.org/clinvar/362700 ^@ NM_000742.3(CHRNA2):c.-78C>G http://identifiers.org/clinvar/362850 ^@ NM_000349.2(STAR):c.120G>A (p.Leu40=) http://identifiers.org/clinvar/363250 ^@ NM_005914.3(MCM4):c.*871G>A http://identifiers.org/clinvar/354962 ^@ NM_014028.3(OSTM1):c.*1399T>A http://identifiers.org/clinvar/363350 ^@ NM_017813.4(IMPAD1):c.*3653C>A http://identifiers.org/clinvar/355113 ^@ NM_000493.3(COL10A1):c.150T>A (p.Ser50Arg) http://identifiers.org/clinvar/355012 ^@ NM_004752.3(GCM2):c.897T>C (p.Pro299=) http://identifiers.org/clinvar/363600 ^@ NM_020361.4(CPA6):c.1127-15dupT http://identifiers.org/clinvar/355363 ^@ NM_006208.2(ENPP1):c.*467A>C http://identifiers.org/clinvar/355163 ^@ NM_000165.4(GJA1):c.1128G>A (p.Arg376=) http://identifiers.org/clinvar/355213 ^@ NM_006073.3(TRDN):c.1576A>C (p.Ile526Leu) http://identifiers.org/clinvar/355463 ^@ NM_172105.3(EYA4):c.*2108A>G http://identifiers.org/clinvar/355513 ^@ NM_017651.4(AHI1):c.-129C>T http://identifiers.org/clinvar/363950 ^@ NM_018444.3(PDP1):c.*566T>C http://identifiers.org/clinvar/364939 ^@ NM_002316.3(LMX1B):c.*1666C>T http://identifiers.org/clinvar/360751 ^@ NM_001001547.2(CD36):c.159T>C (p.Asn53=) http://identifiers.org/clinvar/365089 ^@ NM_000118.3(ENG):c.1095C>T (p.Asp365=) http://identifiers.org/clinvar/365139 ^@ NM_001003722.1(GLE1):c.*387C>G http://identifiers.org/clinvar/356452 ^@ NM_021922.2(FANCE):c.1378C>T (p.Arg460Trp) http://identifiers.org/clinvar/365189 ^@ NM_001130438.2(SPTAN1):c.*166A>G http://identifiers.org/clinvar/365239 ^@ NM_054012.3(ASS1):c.-286_-285insT http://identifiers.org/clinvar/365589 ^@ NM_014694.3(ADAMTSL2):c.1095G>A (p.Pro365=) http://identifiers.org/clinvar/356652 ^@ NM_005943.5(MOCS1):c.*68C>T http://identifiers.org/clinvar/356952 ^@ NM_006502.2(POLH):c.*1858A>G http://identifiers.org/clinvar/356802 ^@ NM_000287.3(PEX6):c.939T>C (p.Pro313=) http://identifiers.org/clinvar/365839 ^@ NM_052813.4(CARD9):c.1104C>T (p.His368=) http://identifiers.org/clinvar/357002 ^@ NM_006502.2(POLH):c.*4767C>T http://identifiers.org/clinvar/365940 ^@ NM_006412.3(AGPAT2):c.-67G>C http://identifiers.org/clinvar/356902 ^@ NM_006502.2(POLH):c.738C>T (p.Leu246=) http://identifiers.org/clinvar/357202 ^@ NM_012120.2(CD2AP):c.*506_*511delATATAT http://identifiers.org/clinvar/357252 ^@ NM_000255.3(MUT):c.*101G>A http://identifiers.org/clinvar/367179 ^@ NM_000170.2(GLDC):c.2564C>T (p.Ala855Val) http://identifiers.org/clinvar/303731 ^@ NM_000525.3(KCNJ11):c.*62G>A http://identifiers.org/clinvar/367129 ^@ NM_004972.3(JAK2):c.2490G>A (p.Leu830=) http://identifiers.org/clinvar/303931 ^@ NM_005566.3(LDHA):c.*745T>C http://identifiers.org/clinvar/304031 ^@ NM_004211.4(SLC6A5):c.2026T>G (p.Phe676Val) http://identifiers.org/clinvar/304131 ^@ NM_213599.2(ANO5):c.*1313A>G http://identifiers.org/clinvar/304231 ^@ NM_000218.2(KCNQ1):c.1979C>A (p.Pro660His) http://identifiers.org/clinvar/304331 ^@ NM_000280.4(PAX6):c.*2385G>C http://identifiers.org/clinvar/304381 ^@ NM_024426.4(WT1):c.*1049_*1054delGTGTGT http://identifiers.org/clinvar/304481 ^@ NM_003477.2(PDHX):c.*486G>T http://identifiers.org/clinvar/312879 ^@ NM_002471.3(MYH6):c.1007C>G (p.Ala336Gly) http://identifiers.org/clinvar/312979 ^@ NM_000359.2(TGM1):c.1317C>T (p.Asn439=) http://identifiers.org/clinvar/313029 ^@ NM_025152.2(NUBPL):c.639C>T (p.Ile213=) http://identifiers.org/clinvar/313279 ^@ NM_018139.2(DNAAF2):c.1315G>C (p.Asp439His) http://identifiers.org/clinvar/313429 ^@ NM_007374.2(SIX6):c.96C>T (p.Arg32=) http://identifiers.org/clinvar/313679 ^@ NM_182914.2(SYNE2):c.*315C>T http://identifiers.org/clinvar/313879 ^@ NM_015346.3(ZFYVE26):c.6486delA (p.Glu2162Aspfs) http://identifiers.org/clinvar/314029 ^@ NM_031427.3(DNAL1):c.*424A>G http://identifiers.org/clinvar/305572 ^@ NM_006946.2(SPTBN2):c.2683G>A (p.Glu895Lys) http://identifiers.org/clinvar/305772 ^@ NM_002496.3(NDUFS8):c.597C>T (p.Ile199=) http://identifiers.org/clinvar/305822 ^@ NM_006019.3(TCIRG1):c.2414+7G>A http://identifiers.org/clinvar/305922 ^@ NM_012309.4(SHANK2):c.336C>T (p.Asp112=) http://identifiers.org/clinvar/306072 ^@ NM_005472.4(KCNE3):c.*589C>A http://identifiers.org/clinvar/315518 ^@ NM_002420.5(TRPM1):c.1839C>T (p.His613=) http://identifiers.org/clinvar/315568 ^@ NM_133647.1(SLC12A6):c.*2516dupT http://identifiers.org/clinvar/315618 ^@ NM_133647.1(SLC12A6):c.1012C>T (p.Arg338Cys) http://identifiers.org/clinvar/300692 ^@ NM_016065.3(MRPS16):c.*1391G>A http://identifiers.org/clinvar/306436 ^@ NM_001814.5(CTSC):c.-45C>G http://identifiers.org/clinvar/300742 ^@ NM_002658.4(PLAU):c.111A>G (p.Gly37=) http://identifiers.org/clinvar/315818 ^@ NM_002225.3(IVD):c.*1117G>A http://identifiers.org/clinvar/309675 ^@ NM_002272.3(KRT4):c.1147G>A (p.Val383Met) http://identifiers.org/clinvar/309775 ^@ NM_002206.2(ITGA7):c.*171delT http://identifiers.org/clinvar/315218 ^@ NM_139057.3(ADAMTS17):c.*671C>T http://identifiers.org/clinvar/317808 ^@ NM_005236.2(ERCC4):c.1102+13G>T http://identifiers.org/clinvar/318110 ^@ NM_002474.2(MYH11):c.4663C>G (p.Leu1555Val) http://identifiers.org/clinvar/310025 ^@ NM_001172696.1(TSFM):c.*412C>T http://identifiers.org/clinvar/318160 ^@ NM_002474.2(MYH11):c.3293+6G>A http://identifiers.org/clinvar/310125 ^@ NM_001038.5(SCNN1A):c.*415C>T http://identifiers.org/clinvar/318260 ^@ NM_004970.2(IGFALS):c.371T>C (p.Leu124Pro) http://identifiers.org/clinvar/310225 ^@ NM_014319.4(LEMD3):c.640G>T (p.Asp214Tyr) http://identifiers.org/clinvar/318510 ^@ NM_001083614.1(EARS2):c.*2156T>G http://identifiers.org/clinvar/318560 ^@ NM_024675.3(PALB2):c.733G>C (p.Ala245Pro) http://identifiers.org/clinvar/318660 ^@ NM_020705.2(TBC1D24):c.*2395A>G http://identifiers.org/clinvar/330530 ^@ NM_006702.4(PNPLA6):c.2505G>A (p.Glu835=) http://identifiers.org/clinvar/337727 ^@ NM_000214.2(JAG1):c.*970T>C http://identifiers.org/clinvar/337927 ^@ NM_198994.2(TGM6):c.1416G>C (p.Trp472Cys) http://identifiers.org/clinvar/337977 ^@ NM_014588.5(VSX1):c.-256_-252delGTGGG http://identifiers.org/clinvar/338027 ^@ NM_006899.4(IDH3B):c.161T>C (p.Leu54Pro) http://identifiers.org/clinvar/319600 ^@ NM_002968.2(SALL1):c.3713C>A (p.Ala1238Glu) http://identifiers.org/clinvar/319700 ^@ NM_001080432.2(FTO):c.*658A>G http://identifiers.org/clinvar/319850 ^@ NM_031885.3(BBS2):c.1910+9T>G http://identifiers.org/clinvar/319900 ^@ NM_000339.2(SLC12A3):c.1284C>T (p.Thr428=) http://identifiers.org/clinvar/312829 ^@ NM_001126106.2(SLC7A7):c.-42-11C>T http://identifiers.org/clinvar/320200 ^@ NM_000229.1(LCAT):c.534G>T (p.Glu178Asp) http://identifiers.org/clinvar/313079 ^@ NM_021914.7(CFL2):c.*2038G>T http://identifiers.org/clinvar/320350 ^@ NM_001605.2(AARS):c.741G>A (p.Leu247=) http://identifiers.org/clinvar/313179 ^@ NM_006194.3(PAX9):c.*429T>C http://identifiers.org/clinvar/320450 ^@ NM_001361.4(DHODH):c.*595C>T http://identifiers.org/clinvar/339117 ^@ NM_207034.2(EDN3):c.-120C>T http://identifiers.org/clinvar/320600 ^@ NM_021615.4(CHST6):c.*33G>C http://identifiers.org/clinvar/320650 ^@ NM_022041.3(GAN):c.56C>A (p.Ala19Glu) http://identifiers.org/clinvar/339267 ^@ NM_001853.3(COL9A3):c.182C>T (p.Pro61Leu) http://identifiers.org/clinvar/313529 ^@ NM_182914.2(SYNE2):c.6880-4G>A http://identifiers.org/clinvar/320800 ^@ NM_001451.2(FOXF1):c.*123dupC http://identifiers.org/clinvar/339417 ^@ NM_025219.2(DNAJC5):c.*2933C>T http://identifiers.org/clinvar/339467 ^@ NM_012469.3(PRPF6):c.616-7C>T http://identifiers.org/clinvar/313629 ^@ NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met) http://identifiers.org/clinvar/339617 ^@ NM_000933.3(PLCB4):c.*1731A>T http://identifiers.org/clinvar/313729 ^@ NM_000347.5(SPTB):c.4511C>T (p.Ala1504Val) http://identifiers.org/clinvar/339667 ^@ NM_000454.4(SOD1):c.-26A>G http://identifiers.org/clinvar/313779 ^@ NM_000347.5(SPTB):c.414T>C (p.Ile138=) http://identifiers.org/clinvar/339817 ^@ NM_001754.4(RUNX1):c.*2886T>C http://identifiers.org/clinvar/339917 ^@ NM_000411.6(HLCS):c.*2945C>T http://identifiers.org/clinvar/340017 ^@ NM_020639.2(RIPK4):c.1617G>A (p.Thr539=) http://identifiers.org/clinvar/340067 ^@ NM_024022.2(TMPRSS3):c.-182G>A http://identifiers.org/clinvar/326402 ^@ NM_024422.4(DSC2):c.-155G>T http://identifiers.org/clinvar/326452 ^@ NM_177986.4(DSG4):c.2748A>G (p.Pro916=) http://identifiers.org/clinvar/328291 ^@ NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) http://identifiers.org/clinvar/342207 ^@ NM_000487.5(ARSA):c.*1238T>G http://identifiers.org/clinvar/367708 ^@ NM_002764.3(PRPS1):c.*538G>C http://identifiers.org/clinvar/328441 ^@ NM_173483.3(CYP4F22):c.939+15_939+16delCC http://identifiers.org/clinvar/367758 ^@ NM_002294.2(LAMP2):c.*2261A>G http://identifiers.org/clinvar/328541 ^@ NM_000453.2(SLC5A5):c.1507G>A (p.Asp503Asn) http://identifiers.org/clinvar/328591 ^@ NM_005535.2(IL12RB1):c.783+10C>T http://identifiers.org/clinvar/328791 ^@ NM_000285.3(PEPD):c.1303C>T (p.Leu435Phe) http://identifiers.org/clinvar/327102 ^@ NM_005359.5(SMAD4):c.-495C>G http://identifiers.org/clinvar/368108 ^@ NM_000132.3(F8):c.*1175G>C http://identifiers.org/clinvar/329091 ^@ NM_000540.2(RYR1):c.9638A>G (p.Tyr3213Cys) http://identifiers.org/clinvar/368658 ^@ NM_004299.4(ABCB7):c.1035+12A>G http://identifiers.org/clinvar/327891 ^@ NM_001130823.2(DNMT1):c.3936C>T (p.Phe1312=) http://identifiers.org/clinvar/327991 ^@ NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser) http://identifiers.org/clinvar/328041 ^@ NM_001128849.1(SMARCA4):c.4731+12G>A http://identifiers.org/clinvar/328341 ^@ NM_024407.4(NDUFS7):c.*15_*20delCCGCCG http://identifiers.org/clinvar/328841 ^@ NM_004646.3(NPHS1):c.*1040C>T http://identifiers.org/clinvar/337877 ^@ NM_000361.2(THBD):c.*87T>G http://identifiers.org/clinvar/338077 ^@ NM_015338.5(ASXL1):c.374-9C>T http://identifiers.org/clinvar/338127 ^@ NM_015338.5(ASXL1):c.*395C>T http://identifiers.org/clinvar/338817 ^@ NM_000782.4(CYP24A1):c.1121T>C (p.Met374Thr) http://identifiers.org/clinvar/338967 ^@ NM_004738.4(VAPB):c.*3118C>A http://identifiers.org/clinvar/339017 ^@ NM_004738.4(VAPB):c.*6088C>T http://identifiers.org/clinvar/339317 ^@ NM_001853.3(COL9A3):c.*276G>A http://identifiers.org/clinvar/330480 ^@ NM_000208.3(INSR):c.39G>C (p.Pro13=) http://identifiers.org/clinvar/339967 ^@ NM_000411.6(HLCS):c.400G>A (p.Asp134Asn) http://identifiers.org/clinvar/337777 ^@ NM_000214.2(JAG1):c.-514G>C http://identifiers.org/clinvar/337827 ^@ NM_024411.4(PDYN):c.*369A>G http://identifiers.org/clinvar/340117 ^@ NM_000100.3(CSTB):c.*301G>A http://identifiers.org/clinvar/340217 ^@ NM_130445.3(COL18A1):c.1290C>T (p.Asp430=) http://identifiers.org/clinvar/340267 ^@ NM_130445.3(COL18A1):c.3539G>A (p.Arg1180His) http://identifiers.org/clinvar/338917 ^@ NM_002591.3(PCK1):c.*528C>G http://identifiers.org/clinvar/339067 ^@ NM_001001433.2(STX16):c.*651_*653dupTAA http://identifiers.org/clinvar/339517 ^@ NM_015192.3(PLCB1):c.*42C>T http://identifiers.org/clinvar/339767 ^@ NM_000219.5(KCNE1):c.*196C>G http://identifiers.org/clinvar/339867 ^@ NM_001754.4(RUNX1):c.*264C>T http://identifiers.org/clinvar/341857 ^@ NM_001429.3(EP300):c.*922_*942del21insC http://identifiers.org/clinvar/341907 ^@ NM_000262.2(NAGA):c.859C>T (p.Arg287Cys) http://identifiers.org/clinvar/378324 ^@ NM_033056.3(PCDH15):c.3374-16G>A http://identifiers.org/clinvar/382165 ^@ NM_032578.3(MYPN):c.1890G>A (p.Glu630=) http://identifiers.org/clinvar/393136 ^@ NM_001134363.2(RBM20):c.1129G>A (p.Gly377Ser) http://identifiers.org/clinvar/391997 ^@ NM_006096.3(NDRG1):c.595-12C>T http://identifiers.org/clinvar/381915 ^@ NM_006393.2(NEBL):c.1869+8C>G http://identifiers.org/clinvar/379271 ^@ NM_000051.3(ATM):c.-43T>G http://identifiers.org/clinvar/392447 ^@ NM_024698.5(SLC25A22):c.15G>A (p.Gln5=) http://identifiers.org/clinvar/377522 ^@ NM_000051.3(ATM):c.8151+11C>T http://identifiers.org/clinvar/380222 ^@ NM_006231.3(POLE):c.3379-5T>C http://identifiers.org/clinvar/386009 ^@ NM_006231.3(POLE):c.1392C>T (p.Val464=) http://identifiers.org/clinvar/393186 ^@ NM_000256.3(MYBPC3):c.3726G>T (p.Lys1242Asn) http://identifiers.org/clinvar/392147 ^@ NM_000256.3(MYBPC3):c.2308+13G>A http://identifiers.org/clinvar/377722 ^@ NM_000093.4(COL5A1):c.2544C>A (p.Arg848=) http://identifiers.org/clinvar/386159 ^@ NM_004984.2(KIF5A):c.1419G>A (p.Leu473=) http://identifiers.org/clinvar/382516 ^@ NM_000059.3(BRCA2):c.2946A>C (p.Ile982=) http://identifiers.org/clinvar/383518 ^@ NM_020751.2(COG6):c.1963C>A (p.Leu655Ile) http://identifiers.org/clinvar/392197 ^@ NM_203447.3(DOCK8):c.689G>A (p.Arg230Gln) http://identifiers.org/clinvar/380322 ^@ NM_006231.3(POLE):c.558G>A (p.Ala186=) http://identifiers.org/clinvar/391947 ^@ NM_014191.3(SCN8A):c.3092T>C (p.Val1031Ala) http://identifiers.org/clinvar/380272 ^@ NM_000136.2(FANCC):c.1248C>T (p.Ala416=) http://identifiers.org/clinvar/385759 ^@ NM_004984.2(KIF5A):c.2993-6C>T http://identifiers.org/clinvar/383869 ^@ NM_014191.3(SCN8A):c.4411A>C (p.Lys1471Gln) http://identifiers.org/clinvar/383568 ^@ NM_004329.2(BMPR1A):c.231-9C>T http://identifiers.org/clinvar/385659 ^@ NM_004329.2(BMPR1A):c.1242C>T (p.Asp414=) http://identifiers.org/clinvar/382667 ^@ NM_133647.1(SLC12A6):c.1551G>A (p.Pro517=) http://identifiers.org/clinvar/382466 ^@ NM_001126106.2(SLC7A7):c.795C>T (p.Ile265=) http://identifiers.org/clinvar/382967 ^@ NM_001160147.1(DDHD1):c.*16A>G http://identifiers.org/clinvar/391297 ^@ NM_015531.5(C2CD3):c.5362-4A>G http://identifiers.org/clinvar/381314 ^@ NM_000260.3(MYO7A):c.5945-4G>A http://identifiers.org/clinvar/382617 ^@ NM_000034.3(ALDOA):c.840G>A (p.Ala280=) http://identifiers.org/clinvar/381965 ^@ NM_002693.2(POLG):c.1236G>A (p.Pro412=) http://identifiers.org/clinvar/380372 ^@ NM_004360.4(CDH1):c.*7C>T http://identifiers.org/clinvar/377421 ^@ NM_000017.3(ACADS):c.322G>A (p.Gly108Ser) http://identifiers.org/clinvar/380022 ^@ NM_018127.6(ELAC2):c.1893A>G (p.Thr631=) http://identifiers.org/clinvar/47423 ^@ NM_001256850.1(TTN):c.78376C>A (p.Pro26126Thr) http://identifiers.org/clinvar/47474 ^@ NM_133378.4(TTN):c.80479T>C (p.Phe26827Leu) http://identifiers.org/clinvar/47524 ^@ NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) http://identifiers.org/clinvar/47574 ^@ NM_133378.4(TTN):c.89240C>T (p.Thr29747Ile) http://identifiers.org/clinvar/47624 ^@ TTN:c.100094G>A (p.Arg33365Gln) http://identifiers.org/clinvar/47674 ^@ NM_133378.4(TTN):c.96856G>C (p.Val32286Leu) http://identifiers.org/clinvar/47724 ^@ NM_133379.4(TTN):c.10361-5delT http://identifiers.org/clinvar/47774 ^@ NM_133379.4(TTN):c.14552T>C (p.Ile4851Thr) http://identifiers.org/clinvar/47824 ^@ NM_001256850.1(TTN):c.11304T>C (p.Ile3768=) http://identifiers.org/clinvar/47874 ^@ NM_138691.2(TMC1):c.45C>T (p.Asp15=) http://identifiers.org/clinvar/47974 ^@ NM_005709.3(USH1C):c.1086-12G>A http://identifiers.org/clinvar/92 ^@ NM_004315.5(ASAH1):c.461A>T (p.Glu154Val) http://identifiers.org/clinvar/102 ^@ NM_001029883.2(C2orf71):c.601A>T (p.Ile201Phe) http://identifiers.org/clinvar/607 ^@ NM_000277.1(PAH):c.1066-11G>A http://identifiers.org/clinvar/779 ^@ NM_198488.3(FAM83H):c.1872_1873delCC (p.Leu625Alafs) http://identifiers.org/clinvar/788 ^@ NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) http://identifiers.org/clinvar/925 ^@ NM_000404.3(GLB1):c.601C>T (p.Arg201Cys) http://identifiers.org/clinvar/1029 ^@ NM_020223.3(FAM20C):c.956+5G>C http://identifiers.org/clinvar/1048 ^@ OBSL1, 1-BP INS, 690C http://identifiers.org/clinvar/1431 ^@ NM_001177317.1(SLC34A3):c.586G>A (p.Gly196Arg) http://identifiers.org/clinvar/1477 ^@ HMBS, IVS6DS, G-C, +1 http://identifiers.org/clinvar/1522 ^@ NM_000237.2(LPL):c.644G>A (p.Gly215Glu) http://identifiers.org/clinvar/1568 ^@ NM_000263.3(NAGLU):c.1694G>C (p.Arg565Pro) http://identifiers.org/clinvar/1612 ^@ NM_024884.2(L2HGDH):c.293A>G (p.His98Arg) http://identifiers.org/clinvar/1894 ^@ NM_015488.4(PNKD):c.97G>C (p.Ala33Pro) http://identifiers.org/clinvar/1939 ^@ NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) http://identifiers.org/clinvar/1984 ^@ NM_000022.3(ADA):c.467G>A (p.Arg156His) http://identifiers.org/clinvar/2028 ^@ NM_017780.3(CHD7):c.3811G>T (p.Glu1271Ter) http://identifiers.org/clinvar/2073 ^@ NM_020435.3(GJC2):c.989delC (p.Pro330Argfs) http://identifiers.org/clinvar/2119 ^@ NM_003477.2(PDHX):c.1183-3088_1247+760del http://identifiers.org/clinvar/2165 ^@ NM_213599.2(ANO5):c.692G>T (p.Gly231Val) http://identifiers.org/clinvar/2210 ^@ NM_024006.5(VKORC1):c.383T>G (p.Leu128Arg) http://identifiers.org/clinvar/2256 ^@ nsv513777 http://identifiers.org/clinvar/2300 ^@ NM_005609.3(PYGM):c.1628A>C (p.Lys543Thr) http://identifiers.org/clinvar/2347 ^@ NM_016341.3(PLCE1):c.3846delG (p.Leu1283Cysfs) http://identifiers.org/clinvar/2393 ^@ NM_000045.3(ARG1):c.32T>C (p.Ile11Thr) http://identifiers.org/clinvar/10154 ^@ NM_000132.3(F8):c.89A>T (p.Glu30Val) http://identifiers.org/clinvar/10244 ^@ NM_000132.3(F8):c.2029T>C (p.Phe677Leu) http://identifiers.org/clinvar/10334 ^@ NM_000132.3(F8):c.6968G>A (p.Arg2323His) http://identifiers.org/clinvar/10431 ^@ NM_000166.5(GJB1):c.424C>T (p.Arg142Trp) http://identifiers.org/clinvar/10525 ^@ GPR143, 19-BP DUP http://identifiers.org/clinvar/10570 ^@ NM_000133.3(F9):c.79G>A (p.Glu27Lys) http://identifiers.org/clinvar/10615 ^@ NM_000133.3(F9):c.1150C>T (p.Arg384Ter) http://identifiers.org/clinvar/10660 ^@ NM_000133.3(F9):c.1151G>C (p.Arg384Pro) http://identifiers.org/clinvar/10706 ^@ AMER1, DEL http://identifiers.org/clinvar/10751 ^@ GLA, 2-BP DEL, NT773 http://identifiers.org/clinvar/10797 ^@ PHF8, 12-BP DEL http://identifiers.org/clinvar/10841 ^@ AVPR2, 1-BP INS http://identifiers.org/clinvar/10887 ^@ NM_000284.3(PDHA1):c.29G>C (p.Arg10Pro) http://identifiers.org/clinvar/10932 ^@ NM_000397.3(CYBB):c.301C>T (p.His101Tyr) http://identifiers.org/clinvar/11444 ^@ NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) http://identifiers.org/clinvar/11495 ^@ CDKL5, IVSAS13, G-A, -1 http://identifiers.org/clinvar/11546 ^@ NM_004208.3(AIFM1):c.601_603delAGA (p.Arg201del) http://identifiers.org/clinvar/11596 ^@ DKC1, IVS12DS, G-A, +1 http://identifiers.org/clinvar/11646 ^@ NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) http://identifiers.org/clinvar/11697 ^@ NM_005629.3(SLC6A8):c.1141G>C (p.Gly381Arg) http://identifiers.org/clinvar/11748 ^@ NM_001110556.1(FLNA):c.720+2T>C http://identifiers.org/clinvar/11799 ^@ NM_001127899.3(CLCN5):c.1768T>C (p.Ser590Pro) http://identifiers.org/clinvar/11849 ^@ MYO7A, 6-BP DEL, EX3 http://identifiers.org/clinvar/11899 ^@ NM_000128.3(F11):c.1289C>T (p.Ala430Val) http://identifiers.org/clinvar/11949 ^@ NM_001918.3(DBT):c.1150G>A (p.Gly384Ser) http://identifiers.org/clinvar/12001 ^@ NM_000151.3(G6PC):c.229T>C (p.Trp77Arg) http://identifiers.org/clinvar/12051 ^@ NM_000136.2(FANCC):c.165+1G>T http://identifiers.org/clinvar/12101 ^@ NM_000196.3(HSD11B2):c.667G>A (p.Asp223Asn) http://identifiers.org/clinvar/12151 ^@ NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) http://identifiers.org/clinvar/12854 ^@ NM_003126.2(SPTA1):c.82C>A (p.Arg28Ser) http://identifiers.org/clinvar/12905 ^@ NM_003041.3(SLC5A2):c.1961A>G (p.Asn654Ser) http://identifiers.org/clinvar/12955 ^@ NM_001035.2(RYR2):c.7422G>C (p.Arg2474Ser) http://identifiers.org/clinvar/13006 ^@ NM_021133.3(RNASEL):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/13057 ^@ NM_000324.2(RHAG):c.154_157delCCTCinsGA (p.Pro52Aspfs) http://identifiers.org/clinvar/13108 ^@ NM_000283.3(PDE6B):c.169_239dup71 (p.Leu83Cysfs) http://identifiers.org/clinvar/13158 ^@ NM_000448.2(RAG1):c.2333G>A (p.Arg778Gln) http://identifiers.org/clinvar/13210 ^@ NM_003018.3(SFTPC):c.563T>A (p.Leu188Gln) http://identifiers.org/clinvar/13261 ^@ EPHA2, IVS16, G-A, -9 http://identifiers.org/clinvar/13312 ^@ NM_000506.3(F2):c.1054G>A (p.Glu352Lys) http://identifiers.org/clinvar/13362 ^@ PSAP, IVS4AS, C-A http://identifiers.org/clinvar/36847 ^@ NM_000458.3(HNF1B):c.345-19C>T http://identifiers.org/clinvar/36898 ^@ NM_014000.2(VCL):c.768T>C (p.Asp256=) http://identifiers.org/clinvar/36967 ^@ NM_002501.3(NFIX):c.362G>C (p.Arg121Pro) http://identifiers.org/clinvar/37071 ^@ NM_001197104.1(KMT2A):c.8806_8809delGTCT (p.Val2936Terfs) http://identifiers.org/clinvar/37136 ^@ NM_022787.3(NMNAT1):c.451G>T (p.Val151Phe) http://identifiers.org/clinvar/37475 ^@ NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) http://identifiers.org/clinvar/37586 ^@ NM_007294.3(BRCA1):c.4387delT (p.Tyr1463Thrfs) http://identifiers.org/clinvar/37638 ^@ NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu) http://identifiers.org/clinvar/37695 ^@ NM_007294.3(BRCA1):c.697_698delGT (p.Val233Asnfs) http://identifiers.org/clinvar/37746 ^@ NM_000059.3(BRCA2):c.1564G>C (p.Gly522Arg) http://identifiers.org/clinvar/37799 ^@ NM_000059.3(BRCA2):c.274C>T (p.Gln92Ter) http://identifiers.org/clinvar/37851 ^@ NM_000059.3(BRCA2):c.3662C>A (p.Ser1221Tyr) http://identifiers.org/clinvar/37904 ^@ NM_000059.3(BRCA2):c.4449delA (p.Asp1484Thrfs) http://identifiers.org/clinvar/37957 ^@ NM_000059.3(BRCA2):c.5303_5304delTT (p.Leu1768Argfs) http://identifiers.org/clinvar/38009 ^@ NM_000059.3(BRCA2):c.5937C>G (p.Ser1979Arg) http://identifiers.org/clinvar/38064 ^@ NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) http://identifiers.org/clinvar/38114 ^@ NM_000059.3(BRCA2):c.7684T>C (p.Phe2562Leu) http://identifiers.org/clinvar/38164 ^@ NM_000059.3(BRCA2):c.8488-1G>A http://identifiers.org/clinvar/38214 ^@ NM_000059.3(BRCA2):c.9117+4C>G http://identifiers.org/clinvar/38264 ^@ NM_000059.3(BRCA2):c.9812T>C (p.Leu3271Ser) http://identifiers.org/clinvar/38326 ^@ NM_000168.5(GLI3):c.3481C>T (p.Gln1161Ter) http://identifiers.org/clinvar/38383 ^@ NM_005211.3(CSF1R):c.2632C>A (p.Pro878Thr) http://identifiers.org/clinvar/38441 ^@ NM_133378.4(TTN):c.100188_100193delAGATGG (p.Gln33396_Gly33398delinsHis) http://identifiers.org/clinvar/38602 ^@ NM_020630.4(RET):c.1858T>A (p.Cys620Ser) http://identifiers.org/clinvar/38766 ^@ NM_000495.4(COL4A5):c.2587_2606del20ins75 (p.?) http://identifiers.org/clinvar/38991 ^@ NM_004614.4(TK2):c.547C>G (p.Arg183Gly) http://identifiers.org/clinvar/39042 ^@ NM_024312.4(GNPTAB):c.1965delC (p.Ile656Terfs) http://identifiers.org/clinvar/39092 ^@ NM_024312.4(GNPTAB):c.940C>T (p.Gln314Ter) http://identifiers.org/clinvar/39149 ^@ NM_198578.3(LRRK2):c.2378G>T (p.Arg793Met) http://identifiers.org/clinvar/39199 ^@ NM_198578.3(LRRK2):c.4911A>G (p.Lys1637=) http://identifiers.org/clinvar/39250 ^@ NM_207352.3(CYP4V2):c.1157A>C (p.Lys386Thr) http://identifiers.org/clinvar/39301 ^@ NR_001566.1(TERC):n.96_97delCT http://identifiers.org/clinvar/40534 ^@ NM_002834.4(PTPN11):c.879C>T (p.His293=) http://identifiers.org/clinvar/40596 ^@ NM_002880.3(RAF1):c.562A>C (p.Ser188Arg) http://identifiers.org/clinvar/40662 ^@ NM_005633.3(SOS1):c.806T>C (p.Met269Thr) http://identifiers.org/clinvar/40749 ^@ NM_002755.3(MAP2K1):c.438+20C>T http://identifiers.org/clinvar/40848 ^@ NM_030662.3(MAP2K2):c.*24C>T http://identifiers.org/clinvar/41019 ^@ NM_000530.7(MPZ):c.306delA (p.Asp104Thrfs) http://identifiers.org/clinvar/41075 ^@ NM_003611.2(OFD1):c.1323_1326delAGAA (p.Glu442Argfs) http://identifiers.org/clinvar/41131 ^@ NM_003611.2(OFD1):c.616_617delGA (p.Glu206Asnfs) http://identifiers.org/clinvar/41183 ^@ NM_003977.3(AIP):c.469-2A>G http://identifiers.org/clinvar/52536 ^@ NM_000059.3(BRCA2):c.8247_8248delGA (p.Lys2750Aspfs) http://identifiers.org/clinvar/52587 ^@ NM_000059.3(BRCA2):c.8436dupA (p.Gly2813Argfs) http://identifiers.org/clinvar/52638 ^@ NM_000059.3(BRCA2):c.8632+1G>A http://identifiers.org/clinvar/52689 ^@ NM_000059.3(BRCA2):c.8842delA (p.Ile2948Leufs) http://identifiers.org/clinvar/52739 ^@ NM_000059.3(BRCA2):c.9069_9076delTAACATAC (p.Asn3024Valfs) http://identifiers.org/clinvar/52791 ^@ NM_000059.3(BRCA2):c.9257-18C>A http://identifiers.org/clinvar/52842 ^@ NM_000059.3(BRCA2):c.9458delG (p.Gly3153Alafs) http://identifiers.org/clinvar/52892 ^@ NM_000059.3(BRCA2):c.9705_9706insG (p.Lys3236Glufs) http://identifiers.org/clinvar/52942 ^@ NM_000218.2(KCNQ1):c.1046C>G (p.Ser349Trp) http://identifiers.org/clinvar/52992 ^@ NM_000218.2(KCNQ1):c.1553G>C (p.Arg518Pro) http://identifiers.org/clinvar/53042 ^@ NM_000218.2(KCNQ1):c.409C>T (p.Leu137Phe) http://identifiers.org/clinvar/53092 ^@ NM_000218.2(KCNQ1):c.728G>A (p.Arg243His) http://identifiers.org/clinvar/53143 ^@ NM_000218.2(KCNQ1):c.946G>C (p.Gly316Arg) http://identifiers.org/clinvar/53196 ^@ NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) http://identifiers.org/clinvar/53248 ^@ NM_000492.3(CFTR):c.1405A>G (p.Met469Val) http://identifiers.org/clinvar/53299 ^@ NM_000492.3(CFTR):c.1611C>A (p.Asp537Glu) http://identifiers.org/clinvar/53349 ^@ NM_000492.3(CFTR):c.1703delT (p.Leu568Cysfs) http://identifiers.org/clinvar/53399 ^@ NM_000492.3(CFTR):c.1826A>T (p.His609Leu) http://identifiers.org/clinvar/53451 ^@ NM_000492.3(CFTR):c.2195T>G (p.Leu732Ter) http://identifiers.org/clinvar/53504 ^@ NM_000492.3(CFTR):c.2502delT (p.Phe834Leufs) http://identifiers.org/clinvar/53554 ^@ NM_000492.3(CFTR):c.274-1G>C http://identifiers.org/clinvar/53604 ^@ NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) http://identifiers.org/clinvar/53656 ^@ NM_000492.3(CFTR):c.3139+101C>G http://identifiers.org/clinvar/53707 ^@ NM_000492.3(CFTR):c.3292T>C (p.Trp1098Arg) http://identifiers.org/clinvar/53757 ^@ NM_000492.3(CFTR):c.3476C>T (p.Ser1159Phe) http://identifiers.org/clinvar/53809 ^@ NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) http://identifiers.org/clinvar/53862 ^@ NM_000492.3(CFTR):c.3963+2T>A http://identifiers.org/clinvar/53913 ^@ NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu) http://identifiers.org/clinvar/53963 ^@ NM_000492.3(CFTR):c.480T>A (p.Ile160=) http://identifiers.org/clinvar/54556 ^@ NM_007294.3(BRCA1):c.2397T>A (p.Asn799Lys) http://identifiers.org/clinvar/54606 ^@ NM_007294.3(BRCA1):c.2568T>G (p.Tyr856Ter) http://identifiers.org/clinvar/54656 ^@ NM_007294.3(BRCA1):c.2719_2722delGAAG (p.Glu907Lysfs) http://identifiers.org/clinvar/54706 ^@ NM_007294.3(BRCA1):c.2872T>A (p.Phe958Ile) http://identifiers.org/clinvar/54756 ^@ NM_007294.3(BRCA1):c.3026C>A (p.Ser1009Ter) http://identifiers.org/clinvar/54806 ^@ NM_007294.3(BRCA1):c.3254_3255dupGA (p.Leu1086Aspfs) http://identifiers.org/clinvar/54856 ^@ NM_007294.3(BRCA1):c.3359_3360delTT (p.Val1120Glufs) http://identifiers.org/clinvar/54906 ^@ NM_007294.3(BRCA1):c.3514G>T (p.Glu1172Ter) http://identifiers.org/clinvar/54958 ^@ NM_007294.3(BRCA1):c.3662A>C (p.Glu1221Ala) http://identifiers.org/clinvar/55009 ^@ NM_007294.3(BRCA1):c.3797G>C (p.Ser1266Thr) http://identifiers.org/clinvar/55059 ^@ NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter) http://identifiers.org/clinvar/55110 ^@ NM_007294.3(BRCA1):c.4131C>A (p.Ser1377Arg) http://identifiers.org/clinvar/55161 ^@ NM_007294.3(BRCA1):c.4287C>A (p.Tyr1429Ter) http://identifiers.org/clinvar/55212 ^@ NM_007294.3:c.4484+2 http://identifiers.org/clinvar/55262 ^@ NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) http://identifiers.org/clinvar/55313 ^@ NM_007294.3(BRCA1):c.490A>C (p.Thr164Pro) http://identifiers.org/clinvar/55363 ^@ NM_007294.3(BRCA1):c.5047G>T (p.Glu1683Ter) http://identifiers.org/clinvar/55413 ^@ NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly) http://identifiers.org/clinvar/55463 ^@ NM_007294.3(BRCA1):c.5213_5215delGAG (p.Gly1738del) http://identifiers.org/clinvar/55516 ^@ NM_007294.3(BRCA1):c.5310delG (p.Phe1772Serfs) http://identifiers.org/clinvar/55566 ^@ NM_007294.3(BRCA1):c.5406+7A>G http://identifiers.org/clinvar/55616 ^@ NM_007294.3(BRCA1):c.5532C>T (p.Leu1844=) http://identifiers.org/clinvar/55668 ^@ NM_007294.3(BRCA1):c.68dupA (p.Cys24Valfs) http://identifiers.org/clinvar/55719 ^@ NM_007294.3(BRCA1):c.81-9C>G http://identifiers.org/clinvar/55770 ^@ NM_007294.3(BRCA1):c.980_981delCA (p.Thr327Metfs) http://identifiers.org/clinvar/55848 ^@ NM_002609.3(PDGFRB):c.1681C>T (p.Arg561Cys) http://identifiers.org/clinvar/55921 ^@ NM_001482.2(GATM):c.608A>C (p.Tyr203Ser) http://identifiers.org/clinvar/55978 ^@ NM_000111.2(SLC26A3):c.1526_1527delGC (p.Ser509Asnfs) http://identifiers.org/clinvar/56031 ^@ NM_000145.3(FSHR):c.1724C>T (p.Ala575Val) http://identifiers.org/clinvar/56492 ^@ NM_004646.3(NPHS1):c.2944dupA (p.Thr982Asnfs) http://identifiers.org/clinvar/101388 ^@ NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) http://identifiers.org/clinvar/101438 ^@ NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu) http://identifiers.org/clinvar/101488 ^@ NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val) http://identifiers.org/clinvar/102445 ^@ NM_001556.2(IKBKB):c.1292dupG (p.Gln432Profs) http://identifiers.org/clinvar/102501 ^@ NM_000277.1(PAH):c.1065+1G>A http://identifiers.org/clinvar/102559 ^@ NM_000277.1(PAH):c.1199+2T>C http://identifiers.org/clinvar/102610 ^@ NM_000277.1(PAH):c.168G>T (p.Glu56Asp) http://identifiers.org/clinvar/102665 ^@ NM_000277.1(PAH):c.411C>T (p.Ser137=) http://identifiers.org/clinvar/102716 ^@ NM_000277.1(PAH):c.511G>A (p.Gly171Arg) http://identifiers.org/clinvar/102766 ^@ NM_000277.1(PAH):c.631C>A (p.Pro211Thr) http://identifiers.org/clinvar/102817 ^@ NM_000277.1(PAH):c.740G>A (p.Gly247Asp) http://identifiers.org/clinvar/102867 ^@ NM_000277.1(PAH):c.839_840insT (p.Glu280Aspfs) http://identifiers.org/clinvar/102919 ^@ NM_000277.1(PAH):c.970-5T>A http://identifiers.org/clinvar/102977 ^@ NM_001330552.1(NLRC5):c.-483G>A http://identifiers.org/clinvar/103027 ^@ NM_001033053.2(NLRP1):c.3927+121G>C http://identifiers.org/clinvar/103077 ^@ NM_001199138.1(NLRC4):c.2-212C>T http://identifiers.org/clinvar/103127 ^@ NM_022162.2(NOD2):c.73+151T>C http://identifiers.org/clinvar/103177 ^@ NM_032206.4(NLRC5):c.3339-404C>T http://identifiers.org/clinvar/103227 ^@ NM_134444.4(NLRP4):c.457_466delATTCAAGGAC (p.Ile153Hisfs) http://identifiers.org/clinvar/103277 ^@ NM_145007.3(NLRP11):c.2744C>T (p.Thr915Ile) http://identifiers.org/clinvar/103327 ^@ NM_176811.2(NLRP8):c.2534+4A>T http://identifiers.org/clinvar/103377 ^@ NM_178844.3(NLRC3):c.67G>A (p.Glu23Lys) http://identifiers.org/clinvar/111251 ^@ NM_005534.3(IFNGR2):c.721+173A>C http://identifiers.org/clinvar/120187 ^@ NM_004990.3(MARS):c.2104C>T (p.Arg702Trp) http://identifiers.org/clinvar/120263 ^@ NM_000277.1(PAH):c.1196T>C (p.Val399Ala) http://identifiers.org/clinvar/120313 ^@ NM_024605.3(ARHGAP10):c.1116+21A>G http://identifiers.org/clinvar/125471 ^@ NM_007294.3(BRCA1):c.-19-3A>G http://identifiers.org/clinvar/125548 ^@ NM_007294.3(BRCA1):c.2217dupA (p.Val740Serfs) http://identifiers.org/clinvar/126729 ^@ NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) http://identifiers.org/clinvar/127364 ^@ NM_000051.3(ATM):c.295A>G (p.Ser99Gly) http://identifiers.org/clinvar/127414 ^@ NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) http://identifiers.org/clinvar/127464 ^@ NM_000051.3(ATM):c.8797A>G (p.Lys2933Glu) http://identifiers.org/clinvar/127515 ^@ NM_000057.3(BLM):c.715G>A (p.Asp239Asn) http://identifiers.org/clinvar/127565 ^@ NM_000179.2(MSH6):c.1793A>G (p.Lys598Arg) http://identifiers.org/clinvar/127616 ^@ NM_000249.3(MLH1):c.1572G>C (p.Met524Ile) http://identifiers.org/clinvar/127672 ^@ NM_000314.6(PTEN):c.-734G>A http://identifiers.org/clinvar/127725 ^@ NM_000465.3(BARD1):c.1935_1954dup20 (p.Glu652Valfs) http://identifiers.org/clinvar/127775 ^@ NM_000535.6(PMS2):c.2174+6T>C http://identifiers.org/clinvar/160795 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 http://identifiers.org/clinvar/160846 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 http://identifiers.org/clinvar/160898 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 http://identifiers.org/clinvar/160950 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/161000 ^@ GRCh38/hg38 8q11.1(chr8:46031334-46662449)x1 http://identifiers.org/clinvar/161051 ^@ GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 http://identifiers.org/clinvar/161101 ^@ NM_030777.3(SLC2A10):c.1330C>T (p.Arg444Ter) http://identifiers.org/clinvar/161151 ^@ NM_152296.4(ATP1A3):c.2781C>G (p.Cys927Trp) http://identifiers.org/clinvar/179860 ^@ NM_001103.3(ACTN2):c.2643C>T (p.Tyr881=) http://identifiers.org/clinvar/179660 ^@ NM_000364.3(TNNT2):c.487G>A (p.Ala163Thr) http://identifiers.org/clinvar/179410 ^@ NM_001035.2(RYR2):c.4241G>A (p.Arg1414Gln) http://identifiers.org/clinvar/178102 ^@ NM_144573.3(NEXN):c.249G>A (p.Glu83=) http://identifiers.org/clinvar/179810 ^@ NM_001256850.1(TTN):c.87857T>A (p.Ile29286Lys) http://identifiers.org/clinvar/166008 ^@ NM_133378.4(TTN):c.42775C>T (p.Arg14259Trp) http://identifiers.org/clinvar/165864 ^@ NM_133378.4(TTN):c.61621G>A (p.Glu20541Lys) http://identifiers.org/clinvar/177800 ^@ NM_001103.3(ACTN2):c.877-8C= http://identifiers.org/clinvar/165958 ^@ NM_133378.4(TTN):c.49196A>G (p.Asn16399Ser) http://identifiers.org/clinvar/179160 ^@ NM_133378.4(TTN):c.94320A>G (p.Leu31440=) http://identifiers.org/clinvar/165704 ^@ NM_001256850.1(TTN):c.91257T>C (p.Ile30419=) http://identifiers.org/clinvar/179010 ^@ NM_001256850.1(TTN):c.86720C>T (p.Ala28907Val) http://identifiers.org/clinvar/180010 ^@ NM_001256850.1(TTN):c.75793C>T (p.Arg25265Ter) http://identifiers.org/clinvar/179910 ^@ NM_133378.4(TTN):c.72302G>A (p.Ser24101Asn) http://identifiers.org/clinvar/179460 ^@ NM_133378.4(TTN):c.35434T>C (p.Cys11812Arg) http://identifiers.org/clinvar/167808 ^@ NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg) http://identifiers.org/clinvar/179060 ^@ NM_133378.4(TTN):c.915-4dupT http://identifiers.org/clinvar/165208 ^@ NM_198843.2(SFTPB):c.5A>C (p.His2Pro) http://identifiers.org/clinvar/165153 ^@ NM_198056.2(SCN5A):c.1891-8G>A http://identifiers.org/clinvar/163266 ^@ NM_004415.3(DSP):c.3650C>T (p.Thr1217Met) http://identifiers.org/clinvar/179560 ^@ NM_004999.3(MYO6):c.-9_-7delCCT http://identifiers.org/clinvar/179210 ^@ NM_000492.3(CFTR):c.489+8T>C http://identifiers.org/clinvar/163662 ^@ NM_000601.5(HGF):c.682T>G (p.Ser228Ala) http://identifiers.org/clinvar/177749 ^@ NM_015404.3(WHRN):c.2256G>C (p.Gln752His) http://identifiers.org/clinvar/163568 ^@ NM_032119.3(ADGRV1):c.2367+8C= http://identifiers.org/clinvar/203078 ^@ NM_001256850.1(TTN):c.99256A>G (p.Arg33086Gly) http://identifiers.org/clinvar/203028 ^@ NM_001256850.1(TTN):c.92519G>A (p.Gly30840Glu) http://identifiers.org/clinvar/202978 ^@ NM_001256850.1(TTN):c.86429G>A (p.Gly28810Asp) http://identifiers.org/clinvar/202928 ^@ NM_001256850.1(TTN):c.80168G>A (p.Arg26723Gln) http://identifiers.org/clinvar/202878 ^@ NM_001256850.1(TTN):c.72433G>A (p.Ala24145Thr) http://identifiers.org/clinvar/202828 ^@ NM_001256850.1(TTN):c.65727C>A (p.Ser21909Arg) http://identifiers.org/clinvar/234149 ^@ NM_005732.3(RAD50):c.941C>G (p.Thr314Arg) http://identifiers.org/clinvar/234249 ^@ NM_005732.3(RAD50):c.1052-2A>C http://identifiers.org/clinvar/230746 ^@ NM_005732.3(RAD50):c.2719G>A (p.Asp907Asn) http://identifiers.org/clinvar/230646 ^@ NM_002485.4(NBN):c.1880A>G (p.Lys627Arg) http://identifiers.org/clinvar/230346 ^@ NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) http://identifiers.org/clinvar/229996 ^@ NM_000051.3(ATM):c.338C>T (p.Pro113Leu) http://identifiers.org/clinvar/230596 ^@ NM_000051.3(ATM):c.4559T>C (p.Ile1520Thr) http://identifiers.org/clinvar/230696 ^@ NM_000051.3(ATM):c.7290T>A (p.His2430Gln) http://identifiers.org/clinvar/230246 ^@ NM_000075.3(CDK4):c.489A>T (p.Arg163Ser) http://identifiers.org/clinvar/234199 ^@ NM_000059.3(BRCA2):c.4505A>G (p.Gln1502Arg) http://identifiers.org/clinvar/230196 ^@ NM_000059.3(BRCA2):c.6801A>G (p.Ser2267=) http://identifiers.org/clinvar/233146 ^@ NM_000059.3(BRCA2):c.7119C>G (p.Ser2373Arg) http://identifiers.org/clinvar/230046 ^@ NM_000059.3(BRCA2):c.9571T>C (p.Trp3191Arg) http://identifiers.org/clinvar/233246 ^@ NM_000059.3(BRCA2):c.9717_9718insAT (p.Val3240Metfs) http://identifiers.org/clinvar/233646 ^@ NM_024675.3(PALB2):c.2482T>C (p.Cys828Arg) http://identifiers.org/clinvar/233999 ^@ NM_024675.3(PALB2):c.964_975dupGAGGCAAATATT (p.Ile325_Ser326insGluAlaAsnIle) http://identifiers.org/clinvar/233899 ^@ NM_024675.3(PALB2):c.500_513delATTCACTCAGATTG (p.Asp167Valfs) http://identifiers.org/clinvar/233798 ^@ NM_004360.4(CDH1):c.871G>A (p.Asp291Asn) http://identifiers.org/clinvar/233696 ^@ NM_001042492.2(NF1):c.3514delG (p.Asp1172Ilefs) http://identifiers.org/clinvar/233296 ^@ NM_001042492.2(NF1):c.5126T>C (p.Ile1709Thr) http://identifiers.org/clinvar/233748 ^@ NM_001042492.2(NF1):c.7446C>A (p.Asp2482Glu) http://identifiers.org/clinvar/234099 ^@ NM_002878.3(RAD51D):c.642A>G (p.Pro214=) http://identifiers.org/clinvar/233849 ^@ NM_007294.3(BRCA1):c.2894T>G (p.Leu965Arg) http://identifiers.org/clinvar/229946 ^@ NM_007294.3(BRCA1):c.1469C>T (p.Pro490Leu) http://identifiers.org/clinvar/230796 ^@ NM_058216.2(RAD51C):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/229896 ^@ NM_032043.2(BRIP1):c.1780T>G (p.Leu594Val) http://identifiers.org/clinvar/230446 ^@ NM_007194.3(CHEK2):c.1452G>A (p.Pro484=) http://identifiers.org/clinvar/233596 ^@ NM_007194.3(CHEK2):c.1203T>C (p.Thr401=) http://identifiers.org/clinvar/234973 ^@ NM_005691.3(ABCC9):c.1043T>G (p.Leu348Arg) http://identifiers.org/clinvar/235074 ^@ NM_005270.4(GLI2):c.349G>A (p.Ala117Thr) http://identifiers.org/clinvar/236145 ^@ NM_000350.2(ABCA4):c.6230G>A (p.Arg2077Gln) http://identifiers.org/clinvar/236095 ^@ NM_000350.2(ABCA4):c.2875A>G (p.Thr959Ala) http://identifiers.org/clinvar/236195 ^@ NM_003060.3(SLC22A5):c.659A>T (p.Glu220Val) http://identifiers.org/clinvar/236283 ^@ NM_000059.3(BRCA2):c.7667dupA (p.Asn2556Lysfs) http://identifiers.org/clinvar/236334 ^@ NC_000016.8:g.6283043_6545214del262172 http://identifiers.org/clinvar/236384 ^@ NC_000016.9:g.77626860_78140002dup513143 http://identifiers.org/clinvar/236535 ^@ NM_206933.2(USH2A):c.13441A>G (p.Arg4481Gly) http://identifiers.org/clinvar/236485 ^@ NM_000260.3(MYO7A):c.3628A>T (p.Lys1210Ter) http://identifiers.org/clinvar/236435 ^@ NM_000180.3(GUCY2D):c.3175A>T (p.Arg1059Ter) http://identifiers.org/clinvar/239435 ^@ NM_003000.2(SDHB):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/241425 ^@ NM_022114.3(PRDM16):c.2449G>A (p.Gly817Ser) http://identifiers.org/clinvar/241575 ^@ NM_024753.4(TTC21B):c.1571C>G (p.Ser524Cys) http://identifiers.org/clinvar/238831 ^@ NM_001267550.2(TTN):c.69579A>G (p.Pro23193=) http://identifiers.org/clinvar/241975 ^@ NM_152383.4(DIS3L2):c.2370C>T (p.Gly790=) http://identifiers.org/clinvar/239835 ^@ NM_004304.4(ALK):c.4275G>A (p.Leu1425=) http://identifiers.org/clinvar/239132 ^@ NM_002354.2(EPCAM):c.523C>T (p.Gln175Ter) http://identifiers.org/clinvar/237140 ^@ NM_000179.2(MSH6):c.1564C>A (p.Gln522Lys) http://identifiers.org/clinvar/237190 ^@ NM_000179.2(MSH6):c.3438+17G>C http://identifiers.org/clinvar/240975 ^@ NM_015120.4(ALMS1):c.10869A>G (p.Glu3623=) http://identifiers.org/clinvar/241225 ^@ NM_017849.3(TMEM127):c.534C>T (p.Tyr178=) http://identifiers.org/clinvar/242175 ^@ NM_181426.1(CCDC39):c.308G>C (p.Arg103Pro) http://identifiers.org/clinvar/237341 ^@ NM_000249.3(MLH1):c.589-7T>C http://identifiers.org/clinvar/237241 ^@ NM_000222.2(KIT):c.1346+7T>C http://identifiers.org/clinvar/236585 ^@ NM_000038.5(APC):c.3105G>T (p.Gln1035His) http://identifiers.org/clinvar/236635 ^@ NM_000038.5(APC):c.6785G>T (p.Ser2262Ile) http://identifiers.org/clinvar/239082 ^@ NM_001999.3(FBN2):c.3351C>T (p.Asp1117=) http://identifiers.org/clinvar/238981 ^@ NM_001369.2(DNAH5):c.5413C>T (p.Arg1805Cys) http://identifiers.org/clinvar/239685 ^@ NM_004168.3(SDHA):c.914G>T (p.Cys305Phe) http://identifiers.org/clinvar/239635 ^@ NM_004168.3(SDHA):c.1064+4C>T http://identifiers.org/clinvar/237291 ^@ NM_000238.3(KCNH2):c.1479C>A (p.Tyr493Ter) http://identifiers.org/clinvar/238931 ^@ NM_001277115.1(DNAH11):c.8188G>T (p.Gly2730Cys) http://identifiers.org/clinvar/262074 ^@ NM_032446.2(MEGF10):c.3162G>A (p.Pro1054=) http://identifiers.org/clinvar/260035 ^@ NM_006790.2(MYOT):c.1025-41dupT http://identifiers.org/clinvar/261674 ^@ NM_023073.3(C5orf42):c.5421+14T>C http://identifiers.org/clinvar/255406 ^@ NM_000163.4(GHR):c.619-29C>T http://identifiers.org/clinvar/262174 ^@ NM_033071.3(SYNE1):c.17995-24A>G http://identifiers.org/clinvar/261124 ^@ NM_019105.6(TNXB):c.1469G>A (p.Arg490Gln) http://identifiers.org/clinvar/261174 ^@ NM_019105.6(TNXB):c.904A>G (p.Thr302Ala) http://identifiers.org/clinvar/257095 ^@ NM_001024630.3(RUNX2):c.243_260del18 (p.Ala84_Ala89del) http://identifiers.org/clinvar/260185 ^@ NM_012120.2(CD2AP):c.1530+20G>A http://identifiers.org/clinvar/258984 ^@ NM_003221.3(TFAP2B):c.540+10A>G http://identifiers.org/clinvar/261024 ^@ NM_018368.3(LMBRD1):c.1509+22G>A http://identifiers.org/clinvar/259334 ^@ NM_004370.5(COL12A1):c.4691-12G>A http://identifiers.org/clinvar/259384 ^@ NM_004415.3(DSP):c.3084+28G>A http://identifiers.org/clinvar/258534 ^@ NM_002047.3(GARS):c.1737C>T (p.Phe579=) http://identifiers.org/clinvar/261974 ^@ NM_031443.3(CCM2):c.866G>A (p.Ser289Asn) http://identifiers.org/clinvar/260924 ^@ NM_017802.3(DNAAF5):c.1258-4G>A http://identifiers.org/clinvar/254956 ^@ NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) http://identifiers.org/clinvar/256645 ^@ NM_000550.2(TYRP1):c.627T>A (p.Gly209=) http://identifiers.org/clinvar/255456 ^@ NM_000170.2(GLDC):c.249G>A (p.Gly83=) http://identifiers.org/clinvar/262124 ^@ NM_032844.4(MASTL):c.465-32G>C http://identifiers.org/clinvar/257345 ^@ NM_001080449.2(DNA2):c.357G>A (p.Leu119=) http://identifiers.org/clinvar/260235 ^@ NM_012330.3(KAT6B):c.2448G>A (p.Thr816=) http://identifiers.org/clinvar/256345 ^@ NM_000518.4(HBB):c.315+16G>C http://identifiers.org/clinvar/259284 ^@ NM_004316.3(ASCL1):c.175_186delCAGCAGCAGCAG (p.Gln59_Gln62del) http://identifiers.org/clinvar/256595 ^@ NM_000545.6(HNF1A):c.1425G>A (p.Pro475=) http://identifiers.org/clinvar/259985 ^@ NM_006446.4(SLCO1B1):c.597C>T (p.Phe199=) http://identifiers.org/clinvar/257145 ^@ NM_001025356.2(ANO6):c.2674G>C (p.Val892Leu) http://identifiers.org/clinvar/254706 ^@ NM_000020.2(ACVRL1):c.1131A>G (p.Ala377=) http://identifiers.org/clinvar/258584 ^@ NM_002206.2(ITGA7):c.2295C>T (p.Ile765=) http://identifiers.org/clinvar/256695 ^@ NM_000552.4(VWF):c.7082-7C>T http://identifiers.org/clinvar/257545 ^@ NM_001131025.1(PEX5):c.*20G>C http://identifiers.org/clinvar/261824 ^@ NM_025114.3(CEP290):c.*44T>A http://identifiers.org/clinvar/261074 ^@ NM_018979.3(WNK1):c.6828C>T (p.Tyr2276=) http://identifiers.org/clinvar/259184 ^@ NM_003850.2(SUCLA2):c.1350G>A (p.Ala450=) http://identifiers.org/clinvar/261624 ^@ NM_022489.3(INF2):c.391+6C>T http://identifiers.org/clinvar/261924 ^@ NM_030621.4(DICER1):c.4407T>C (p.Leu1469=) http://identifiers.org/clinvar/255306 ^@ NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) http://identifiers.org/clinvar/332530 ^@ NM_003659.3(AGPS):c.*428C>T http://identifiers.org/clinvar/332580 ^@ NM_003659.3(AGPS):c.*3073A>G http://identifiers.org/clinvar/332630 ^@ NM_003690.4(PRKRA):c.380C>T (p.Pro127Leu) http://identifiers.org/clinvar/333030 ^@ NM_002500.4(NEUROD1):c.*617C>T http://identifiers.org/clinvar/333080 ^@ NM_000090.3(COL3A1):c.*370A>G http://identifiers.org/clinvar/335221 ^@ NM_004321.7(KIF1A):c.*2632G>A http://identifiers.org/clinvar/332980 ^@ NM_201548.4(CERKL):c.*1216G>A http://identifiers.org/clinvar/336588 ^@ NM_001135659.2(NRXN1):c.-1367dupC http://identifiers.org/clinvar/336638 ^@ NM_001039348.2(EFEMP1):c.-88C>T http://identifiers.org/clinvar/336738 ^@ NM_032180.2(FAM161A):c.1270G>A (p.Val424Ile) http://identifiers.org/clinvar/333919 ^@ NM_015040.3(PIKFYVE):c.4215A>G (p.Leu1405=) http://identifiers.org/clinvar/336888 ^@ NM_001002755.2(NFU1):c.629G>T (p.Cys210Phe) http://identifiers.org/clinvar/334120 ^@ NM_000384.2(APOB):c.8231C>T (p.Pro2744Leu) http://identifiers.org/clinvar/337188 ^@ NM_000821.6(GGCX):c.*3875C>T http://identifiers.org/clinvar/334020 ^@ NM_001875.4(CPS1):c.1068C>G (p.Val356=) http://identifiers.org/clinvar/334421 ^@ NM_025216.2(WNT10A):c.*275C>T http://identifiers.org/clinvar/336688 ^@ NM_002618.3(PEX13):c.*1283C>G http://identifiers.org/clinvar/334221 ^@ NM_173076.2(ABCA12):c.7468T>C (p.Leu2490=) http://identifiers.org/clinvar/334671 ^@ NM_000092.4(COL4A4):c.*2120delA http://identifiers.org/clinvar/334521 ^@ NM_015311.2(OBSL1):c.1404G>A (p.Leu468=) http://identifiers.org/clinvar/334571 ^@ NM_003590.4(CUL3):c.*3785dupA http://identifiers.org/clinvar/335071 ^@ NM_000541.4(SAG):c.838A>G (p.Lys280Glu) http://identifiers.org/clinvar/334721 ^@ NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) http://identifiers.org/clinvar/342907 ^@ NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) http://identifiers.org/clinvar/343107 ^@ NM_002880.3(RAF1):c.-146C>G http://identifiers.org/clinvar/335271 ^@ NM_004321.7(KIF1A):c.2944G>A (p.Ala982Thr) http://identifiers.org/clinvar/334871 ^@ NM_025243.3(SLC19A3):c.*231G>A http://identifiers.org/clinvar/334921 ^@ NM_152383.4(DIS3L2):c.-250C>G http://identifiers.org/clinvar/334971 ^@ NM_000751.2(CHRND):c.1253-10T>G http://identifiers.org/clinvar/335021 ^@ NM_005199.4(CHRNG):c.*496A>G http://identifiers.org/clinvar/335121 ^@ NM_004369.3(COL6A3):c.5179C>T (p.Arg1727Trp) http://identifiers.org/clinvar/343407 ^@ NM_003571.3(BFSP2):c.422A>C (p.Glu141Ala) http://identifiers.org/clinvar/335171 ^@ NM_004544.3(NDUFA10):c.*2149C>T http://identifiers.org/clinvar/343757 ^@ NM_000096.3(CP):c.2310G>A (p.Lys770=) http://identifiers.org/clinvar/342857 ^@ NM_053025.3(MYLK):c.*246A>G http://identifiers.org/clinvar/343207 ^@ NM_014049.4(ACAD9):c.1765+13T>C http://identifiers.org/clinvar/354673 ^@ NM_005068.2(SIM1):c.*99G>A http://identifiers.org/clinvar/354823 ^@ NM_007214.4(SEC63):c.*3434A>G http://identifiers.org/clinvar/350886 ^@ NM_000358.2(TGFBI):c.1312C>T (p.His438Tyr) http://identifiers.org/clinvar/354873 ^@ NM_007214.4(SEC63):c.*1343G>A http://identifiers.org/clinvar/357902 ^@ NM_012434.4(SLC17A5):c.*1533A>G http://identifiers.org/clinvar/358402 ^@ NM_005045.3(RELN):c.4466G>A (p.Gly1489Glu) http://identifiers.org/clinvar/351536 ^@ NM_006846.3(SPINK5):c.2754A>G (p.Glu918=) http://identifiers.org/clinvar/351586 ^@ NM_024577.3(SH3TC2):c.*20469C>T http://identifiers.org/clinvar/351386 ^@ NM_002700.2(POU4F3):c.948C>G (p.Asn316Lys) http://identifiers.org/clinvar/351636 ^@ NM_024577.3(SH3TC2):c.*16509A>G http://identifiers.org/clinvar/351736 ^@ NM_024577.3(SH3TC2):c.*9953C>T http://identifiers.org/clinvar/351786 ^@ NM_024577.3(SH3TC2):c.*6557T>C http://identifiers.org/clinvar/351836 ^@ NM_024577.3(SH3TC2):c.*3430T>A http://identifiers.org/clinvar/351886 ^@ NM_024577.3(SH3TC2):c.*391G>C http://identifiers.org/clinvar/352084 ^@ NM_000112.3(SLC26A2):c.*4391G>T http://identifiers.org/clinvar/352134 ^@ NM_005211.3(CSF1R):c.2499G>A (p.Thr833=) http://identifiers.org/clinvar/352284 ^@ NM_000405.4(GM2A):c.*1445G>A http://identifiers.org/clinvar/352334 ^@ NM_000337.5(SGCD):c.475G>A (p.Val159Ile) http://identifiers.org/clinvar/352184 ^@ NM_005211.3(CSF1R):c.-187G>A http://identifiers.org/clinvar/352234 ^@ NM_001135243.1(TCOF1):c.4041G>A (p.Arg1347=) http://identifiers.org/clinvar/356613 ^@ NM_005943.5(MOCS1):c.*1830_*1831dupTT http://identifiers.org/clinvar/356763 ^@ NM_000322.4(PRPH2):c.*592A>T http://identifiers.org/clinvar/353223 ^@ NM_014324.5(AMACR):c.*2044C>A http://identifiers.org/clinvar/353273 ^@ NM_002185.3(IL7R):c.*453G>T http://identifiers.org/clinvar/353323 ^@ NM_004172.4(SLC1A3):c.1269C>T (p.Phe423=) http://identifiers.org/clinvar/353123 ^@ NM_014244.4(ADAMTS2):c.1308G>A (p.Ala436=) http://identifiers.org/clinvar/361661 ^@ NM_000127.2(EXT1):c.210A>G (p.Gln70=) http://identifiers.org/clinvar/353873 ^@ NM_176806.3(MOCS2):c.*658G>C http://identifiers.org/clinvar/306196 ^@ NM_000260.3(MYO7A):c.5661G>A (p.Pro1887=) http://identifiers.org/clinvar/363800 ^@ NM_000318.2(PEX2):c.*1085T>A http://identifiers.org/clinvar/363850 ^@ NM_019098.4(CNGB3):c.*1303G>A http://identifiers.org/clinvar/306547 ^@ NM_016156.5(MTMR2):c.184_186delAGG (p.Arg62del) http://identifiers.org/clinvar/306597 ^@ NM_030962.3(SBF2):c.2537-5C>T http://identifiers.org/clinvar/303792 ^@ NM_000352.4(ABCC8):c.-113G>A http://identifiers.org/clinvar/306747 ^@ NM_002465.3(MYBPC1):c.2908A>C (p.Ile970Leu) http://identifiers.org/clinvar/306847 ^@ NM_000618.4(IGF1):c.*4940C>A http://identifiers.org/clinvar/364400 ^@ NM_005502.3(ABCA1):c.4536G>T (p.Thr1512=) http://identifiers.org/clinvar/300553 ^@ NM_004273.4(CHST3):c.-108+6T>G http://identifiers.org/clinvar/300653 ^@ NM_004273.4(CHST3):c.*3666G>A http://identifiers.org/clinvar/364800 ^@ NM_000177.4(GSN):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/364550 ^@ NM_003640.4(IKBKAP):c.3931+14C>G http://identifiers.org/clinvar/364600 ^@ NM_005592.3(MUSK):c.239A>G (p.Asn80Ser) http://identifiers.org/clinvar/300853 ^@ NM_012330.3(KAT6B):c.-245A>C http://identifiers.org/clinvar/364700 ^@ NM_015404.3(WHRN):c.-91C>T http://identifiers.org/clinvar/301003 ^@ NM_007055.3(POLR3A):c.*1640delC http://identifiers.org/clinvar/364850 ^@ NM_000550.2(TYRP1):c.-6A>G http://identifiers.org/clinvar/364950 ^@ NM_002316.3(LMX1B):c.*2023C>T http://identifiers.org/clinvar/301103 ^@ NM_001002295.1(GATA3):c.-370+28delT http://identifiers.org/clinvar/308386 ^@ NM_012062.4(DNM1L):c.456+9G>A http://identifiers.org/clinvar/308436 ^@ NM_012062.4(DNM1L):c.*2014C>T http://identifiers.org/clinvar/301253 ^@ NM_033100.3(CDHR1):c.2027T>A (p.Ile676Asn) http://identifiers.org/clinvar/301403 ^@ NM_005271.4(GLUD1):c.-179C>A http://identifiers.org/clinvar/365200 ^@ NM_014908.3(DOLK):c.-94G>T http://identifiers.org/clinvar/365250 ^@ NM_054012.3(ASS1):c.174+4C>A http://identifiers.org/clinvar/365350 ^@ NM_015046.5(SETX):c.5315T>C (p.Phe1772Ser) http://identifiers.org/clinvar/365400 ^@ NM_000368.4(TSC1):c.*4167C>A http://identifiers.org/clinvar/309136 ^@ NM_000217.2(KCNA1):c.-291_-289delACA http://identifiers.org/clinvar/365500 ^@ NM_000368.4(TSC1):c.*333C>A http://identifiers.org/clinvar/309386 ^@ NM_014191.3(SCN8A):c.*1199T>C http://identifiers.org/clinvar/309536 ^@ NM_002282.3(KRT83):c.452G>A (p.Cys151Tyr) http://identifiers.org/clinvar/366190 ^@ NM_144966.5(FREM1):c.-587G>T http://identifiers.org/clinvar/309636 ^@ NM_006121.3(KRT1):c.1912A>G (p.Thr638Ala) http://identifiers.org/clinvar/302242 ^@ NM_000051.3(ATM):c.-74G>A http://identifiers.org/clinvar/366390 ^@ NM_000459.4(TEK):c.-21G>A http://identifiers.org/clinvar/366490 ^@ NM_001256054.2(C9orf72):c.*921C>A http://identifiers.org/clinvar/302642 ^@ NM_174934.3(SCN4B):c.*434T>C http://identifiers.org/clinvar/302742 ^@ NM_001382.3(DPAGT1):c.*379G>T http://identifiers.org/clinvar/366340 ^@ NM_003070.4(SMARCA2):c.*694T>G http://identifiers.org/clinvar/366840 ^@ NM_005476.5(GNE):c.*208T>C http://identifiers.org/clinvar/302942 ^@ NG_012235.1:g.10442C>G http://identifiers.org/clinvar/366540 ^@ NM_203447.3(DOCK8):c.452G>A (p.Arg151Gln) http://identifiers.org/clinvar/366990 ^@ NM_001042413.1(GLIS3):c.844C>G (p.Pro282Ala) http://identifiers.org/clinvar/340417 ^@ NM_006657.2(FTCD):c.1408C>T (p.Arg470Trp) http://identifiers.org/clinvar/340818 ^@ NM_017929.5(PEX26):c.*2799dupG http://identifiers.org/clinvar/314729 ^@ NM_000153.3(GALC):c.*1453A>G http://identifiers.org/clinvar/340968 ^@ NM_022081.5(HPS4):c.*1576C>T http://identifiers.org/clinvar/314779 ^@ NM_018418.4(SPATA7):c.357T>G (p.Phe119Leu) http://identifiers.org/clinvar/341118 ^@ NM_000268.3(NF2):c.*1672C>T http://identifiers.org/clinvar/341168 ^@ NM_000268.3(NF2):c.*3298G>T http://identifiers.org/clinvar/314979 ^@ NM_004239.4(TRIP11):c.183T>C (p.His61=) http://identifiers.org/clinvar/341318 ^@ NM_012179.3(FBXO7):c.1505A>G (p.Asn502Ser) http://identifiers.org/clinvar/341368 ^@ NM_000362.4(TIMP3):c.*1681T>C http://identifiers.org/clinvar/341468 ^@ NM_002473.5(MYH9):c.*802T>G http://identifiers.org/clinvar/341768 ^@ NM_001429.3(EP300):c.-192C>T http://identifiers.org/clinvar/341818 ^@ NM_001429.3(EP300):c.5808G>A (p.Ala1936=) http://identifiers.org/clinvar/315479 ^@ NM_000275.2(OCA2):c.-109T>C http://identifiers.org/clinvar/315529 ^@ NM_002420.5(TRPM1):c.1219C>A (p.Pro407Thr) http://identifiers.org/clinvar/342118 ^@ NM_015166.3(MLC1):c.-467G>A http://identifiers.org/clinvar/367969 ^@ NM_001011658.3(TRAPPC2):c.*1599T>C http://identifiers.org/clinvar/314179 ^@ NM_005589.3(ALDH6A1):c.636G>A (p.Glu212=) http://identifiers.org/clinvar/368069 ^@ NM_000033.3(ABCD1):c.*985C>G http://identifiers.org/clinvar/314329 ^@ NM_014239.3(EIF2B2):c.-56T>C http://identifiers.org/clinvar/314379 ^@ NM_001040108.1(MLH3):c.3136C>T (p.Arg1046Trp) http://identifiers.org/clinvar/314429 ^@ NM_017791.2(FLVCR2):c.*1040C>T http://identifiers.org/clinvar/314529 ^@ NM_013382.5(POMT2):c.*1285T>C http://identifiers.org/clinvar/314579 ^@ NM_004863.3(SPTLC2):c.*5008G>A http://identifiers.org/clinvar/316668 ^@ NM_000236.2(LIPC):c.867C>T (p.Ser289=) http://identifiers.org/clinvar/316718 ^@ NM_016630.6(SPG21):c.*19T>A http://identifiers.org/clinvar/324512 ^@ NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) http://identifiers.org/clinvar/316768 ^@ NM_001101362.2(KBTBD13):c.*1123_*1125delCTC http://identifiers.org/clinvar/316968 ^@ NM_017882.2(CLN6):c.*934G>T http://identifiers.org/clinvar/314929 ^@ NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) http://identifiers.org/clinvar/317118 ^@ NM_022369.3(STRA6):c.91G>A (p.Gly31Ser) http://identifiers.org/clinvar/324812 ^@ NM_002734.4(PRKAR1A):c.*1835delA http://identifiers.org/clinvar/317168 ^@ NM_003978.4(PSTPIP1):c.-124C>T http://identifiers.org/clinvar/324862 ^@ NM_000891.2(KCNJ2):c.*1702_*1704dupCTC http://identifiers.org/clinvar/315029 ^@ NM_000295.4(SERPINA1):c.211A>C (p.Ser71Arg) http://identifiers.org/clinvar/317218 ^@ NM_000137.2(FAH):c.*88C>T http://identifiers.org/clinvar/317268 ^@ NM_001113378.1(FANCI):c.976-13A>T http://identifiers.org/clinvar/317318 ^@ NM_002693.2(POLG):c.3644-184T>C http://identifiers.org/clinvar/317419 ^@ NM_018668.4(VPS33B):c.1591C>T (p.Arg531Trp) http://identifiers.org/clinvar/325212 ^@ NM_001005731.2(ITGB4):c.4917C>T (p.Asn1639=) http://identifiers.org/clinvar/315129 ^@ NM_139057.3(ADAMTS17):c.*2701G>C http://identifiers.org/clinvar/325362 ^@ NM_004035.6(ACOX1):c.*676G>T http://identifiers.org/clinvar/315229 ^@ NM_139057.3(ADAMTS17):c.*439G>A http://identifiers.org/clinvar/325612 ^@ NM_006640.4(SEPT9):c.*1570dupA http://identifiers.org/clinvar/317869 ^@ NM_005236.2(ERCC4):c.*3200A>G http://identifiers.org/clinvar/317919 ^@ NM_001287.5(CLCN7):c.*1157C>T http://identifiers.org/clinvar/316268 ^@ NM_000338.2(SLC12A1):c.2255C>T (p.Ala752Val) http://identifiers.org/clinvar/316418 ^@ NM_014985.3(CEP152):c.2928G>A (p.Glu976=) http://identifiers.org/clinvar/373579 ^@ NM_024296.4(CCDC28B):c.281G>A (p.Gly94Glu) http://identifiers.org/clinvar/373179 ^@ NM_017837.3(PIGV):c.891C>A (p.Phe297Leu) http://identifiers.org/clinvar/373379 ^@ NM_001267550.2(TTN):c.80365_80432del68 (p.Leu26789Serfs) http://identifiers.org/clinvar/373229 ^@ NM_003060.3(SLC22A5):c.1252C>T (p.Gln418Ter) http://identifiers.org/clinvar/373779 ^@ NM_007171.3(POMT1):c.1865G>T (p.Arg622Leu) http://identifiers.org/clinvar/373429 ^@ NM_000443.3(ABCB4):c.1073C>A (p.Ala358Asp) http://identifiers.org/clinvar/373729 ^@ NM_031226.2(CYP19A1):c.380T>C (p.Met127Thr) http://identifiers.org/clinvar/373679 ^@ NM_001009944.2(PKD1):c.5093G>C (p.Arg1698Pro) http://identifiers.org/clinvar/373529 ^@ NM_001390.4(DTNA):c.2228G>A (p.Gly743Asp) http://identifiers.org/clinvar/373629 ^@ NM_000071.2(CBS):c.844C>T (p.Pro282Ser) http://identifiers.org/clinvar/373479 ^@ NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln) http://identifiers.org/clinvar/373279 ^@ NM_172107.3(KCNQ2):c.479G>C (p.Arg160Pro) http://identifiers.org/clinvar/373329 ^@ NM_004840.2(ARHGEF6):c.2170G>A (p.Glu724Lys) http://identifiers.org/clinvar/373829 ^@ NM_000059.3(BRCA2):c.6550C>T (p.Gln2184Ter) http://identifiers.org/clinvar/373879 ^@ NG_005905.2:g.(170342_172181)_(172307_?)del http://identifiers.org/clinvar/373932 ^@ NM_004370.5(COL12A1):c.1281delT (p.Gln428Lysfs) http://identifiers.org/clinvar/373982 ^@ NM_000123.3(ERCC5):c.2929_2930delCT (p.Leu977Valfs) http://identifiers.org/clinvar/374032 ^@ NM_000138.4(FBN1):c.5180G>A (p.Arg1727Gln) http://identifiers.org/clinvar/374082 ^@ NM_000267.3(NF1):c.68delT (p.Ile23Lysfs) http://identifiers.org/clinvar/374574 ^@ NM_033071.3(SYNE1):c.9565_9566delGCinsAA (p.Ala3189Asn) http://identifiers.org/clinvar/375915 ^@ NM_000222.2(KIT):c.1679T>C (p.Val560Ala) http://identifiers.org/clinvar/384970 ^@ NM_000179.2(MSH6):c.3173-10C>A http://identifiers.org/clinvar/386759 ^@ NM_001135659.2(NRXN1):c.1149C>G (p.Ala383=) http://identifiers.org/clinvar/390008 ^@ NM_015120.4(ALMS1):c.3693G>A (p.Gly1231=) http://identifiers.org/clinvar/387559 ^@ NM_001927.3(DES):c.1024-11C>T http://identifiers.org/clinvar/392947 ^@ NM_001199799.1(ILDR1):c.880C>T (p.Arg294Trp) http://identifiers.org/clinvar/383368 ^@ NM_000030.2(AGXT):c.743C>T (p.Ala248Val) http://identifiers.org/clinvar/381725 ^@ NM_005677.3(COLQ):c.1228C>T (p.Arg410Trp) http://identifiers.org/clinvar/379032 ^@ NM_000179.2(MSH6):c.1086T>C (p.Pro362=) http://identifiers.org/clinvar/378174 ^@ NM_000179.2(MSH6):c.*9C>T http://identifiers.org/clinvar/383468 ^@ NM_000038.5(APC):c.1744-14C>A http://identifiers.org/clinvar/379682 ^@ NM_033109.4(PNPT1):c.298-10G>T http://identifiers.org/clinvar/385120 ^@ NM_001148.4(ANK2):c.2265C>T (p.Asn755=) http://identifiers.org/clinvar/384870 ^@ NM_024582.4(FAT4):c.4530T>C (p.Tyr1510=) http://identifiers.org/clinvar/392597 ^@ NM_024582.4(FAT4):c.13454C>T (p.Ala4485Val) http://identifiers.org/clinvar/381125 ^@ NM_000551.3(VHL):c.-15T>C http://identifiers.org/clinvar/384019 ^@ NM_000038.5(APC):c.6012A>G (p.Ala2004=) http://identifiers.org/clinvar/387359 ^@ NM_183357.2(ADCY5):c.3599G>T (p.Gly1200Val) http://identifiers.org/clinvar/390208 ^@ NM_053025.3(MYLK):c.5155C>T (p.Leu1719=) http://identifiers.org/clinvar/378074 ^@ NM_020117.10(LARS):c.1248T>C (p.Tyr416=) http://identifiers.org/clinvar/379232 ^@ NM_000060.4(BTD):c.866C>T (p.Ala289Val) http://identifiers.org/clinvar/386709 ^@ NM_013391.3(DMGDH):c.480A>G (p.Glu160=) http://identifiers.org/clinvar/384169 ^@ NM_002538.3(OCLN):c.730-7T>C http://identifiers.org/clinvar/392847 ^@ NM_080680.2(COL11A2):c.1427C>A (p.Ala476Glu) http://identifiers.org/clinvar/379582 ^@ NM_004415.3(DSP):c.2155A>C (p.Ile719Leu) http://identifiers.org/clinvar/379082 ^@ NM_004519.3(KCNQ3):c.2538G>A (p.Thr846=) http://identifiers.org/clinvar/390058 ^@ NM_152701.4(ABCA13):c.2648A>T (p.Lys883Ile) http://identifiers.org/clinvar/381775 ^@ NM_001101.3(ACTB):c.324C>T (p.Ala108=) http://identifiers.org/clinvar/380774 ^@ NM_024790.6(CSPP1):c.3270C>T (p.Pro1090=) http://identifiers.org/clinvar/379332 ^@ NM_153033.4(KCTD7):c.631C>T (p.Arg211Ter) http://identifiers.org/clinvar/390908 ^@ NM_006294.4(UQCRB):c.91+11G>C http://identifiers.org/clinvar/387259 ^@ NM_020117.10(LARS):c.1065+12A>G http://identifiers.org/clinvar/378580 ^@ NM_000193.3(SHH):c.300+17G>A http://identifiers.org/clinvar/391108 ^@ NM_138361.5(LRSAM1):c.1699-16C>T http://identifiers.org/clinvar/380573 ^@ NM_001085411.2(NADK2):c.1104G>A (p.Pro368=) http://identifiers.org/clinvar/383318 ^@ NM_000535.6(PMS2):c.321G>T (p.Arg107=) http://identifiers.org/clinvar/390508 ^@ NM_007327.3(GRIN1):c.930C>T (p.Gly310=) http://identifiers.org/clinvar/390608 ^@ NM_024757.4(EHMT1):c.3462-10C>G http://identifiers.org/clinvar/383218 ^@ NM_203447.3(DOCK8):c.1044+12C>T http://identifiers.org/clinvar/384069 ^@ NM_020822.2(KCNT1):c.2008+18C>T http://identifiers.org/clinvar/133022 ^@ NM_000540.2(RYR1):c.11908-14A>G http://identifiers.org/clinvar/133072 ^@ NM_000540.2(RYR1):c.14497C>T (p.His4833Tyr) http://identifiers.org/clinvar/133122 ^@ NM_000540.2(RYR1):c.2996G>A (p.Arg999His) http://identifiers.org/clinvar/133172 ^@ NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) http://identifiers.org/clinvar/133222 ^@ NM_000540.2(RYR1):c.8310+98C>G http://identifiers.org/clinvar/133301 ^@ NM_000441.1(SLC26A4):c.765+3A>C http://identifiers.org/clinvar/133364 ^@ NM_017617.4(NOTCH1):c.5167+114C>T http://identifiers.org/clinvar/133414 ^@ NM_003820.3(TNFRSF14):c.305-57C>T http://identifiers.org/clinvar/133464 ^@ NM_004304.4(ALK):c.2577G>C (p.Glu859Asp) http://identifiers.org/clinvar/133515 ^@ NM_000038.5(APC):c.8273A>G (p.Glu2758Gly) http://identifiers.org/clinvar/134512 ^@ NM_000545.6(HNF1A):c.1720_1729delGGCATCCAGCinsGGCATCCAGG (p.His577Asp) http://identifiers.org/clinvar/134562 ^@ NM_004972.3(JAK2):c.1009A>G (p.Asn337Asp) http://identifiers.org/clinvar/134969 ^@ NM_024408.3(NOTCH2):c.1517A>G (p.Asn506Ser) http://identifiers.org/clinvar/135019 ^@ NM_006206.4(PDGFRA):c.2935C>T (p.Arg979Cys) http://identifiers.org/clinvar/135070 ^@ NM_000535.6(PMS2):c.598G>A (p.Val200Ile) http://identifiers.org/clinvar/135121 ^@ NM_000321.2(RB1):c.1898C>T (p.Thr633Ile) http://identifiers.org/clinvar/135172 ^@ NM_004260.3(RECQL4):c.1417C>G (p.Leu473Val) http://identifiers.org/clinvar/135202 ^@ NM_014159.6(SETD2):c.5885C>T (p.Pro1962Leu) http://identifiers.org/clinvar/135253 ^@ NM_001128849.1(SMARCA4):c.4642A>G (p.Asn1548Asp) http://identifiers.org/clinvar/135303 ^@ NM_001127208.2(TET2):c.2429A>G (p.Gln810Arg) http://identifiers.org/clinvar/135353 ^@ NM_003820.3(TNFRSF14):c.349G>A (p.Ala117Thr) http://identifiers.org/clinvar/135404 ^@ NM_001142626.2(TSHR):c.750_752delGTAinsTTT (p.Tyr251Phe) http://identifiers.org/clinvar/135454 ^@ NM_001198551.1(WT1):c.441C>A (p.His147Gln) http://identifiers.org/clinvar/135504 ^@ NM_000545.6(HNF1A):c.1623+23C>T http://identifiers.org/clinvar/135554 ^@ NM_001127500.2(MET):c.-14-3314A>T http://identifiers.org/clinvar/135629 ^@ NM_001135937.2(SMAD2):c.907+1G>A http://identifiers.org/clinvar/135689 ^@ NM_000038.5(APC):c.2408C>T (p.Thr803Ile) http://identifiers.org/clinvar/135740 ^@ NM_000051.3(ATM):c.1986T>C (p.Phe662=) http://identifiers.org/clinvar/135795 ^@ NM_000059.3(BRCA2):c.3000T>A (p.Ile1000=) http://identifiers.org/clinvar/135849 ^@ NM_000249.3(MLH1):c.2029A>T (p.Ser677Cys) http://identifiers.org/clinvar/135899 ^@ NM_000264.3(PTCH1):c.4170G>A (p.Gly1390=) http://identifiers.org/clinvar/135949 ^@ NM_000546.5(TP53):c.508A>G (p.Thr170Ala) http://identifiers.org/clinvar/136001 ^@ NM_001166110.1(PALLD):c.191C>G (p.Ala64Gly) http://identifiers.org/clinvar/136051 ^@ NM_004329.2(BMPR1A):c.569A>G (p.Asn190Ser) http://identifiers.org/clinvar/136102 ^@ NM_020975.4(RET):c.1642G>A (p.Gly548Ser) http://identifiers.org/clinvar/136152 ^@ NM_032043.2(BRIP1):c.627+1G>A http://identifiers.org/clinvar/136213 ^@ NM_020745.3(AARS2):c.2033G>A (p.Arg678Gln) http://identifiers.org/clinvar/136263 ^@ NM_001098.2(ACO2):c.1032+17C>T http://identifiers.org/clinvar/136314 ^@ NM_006796.2(AFG3L2):c.1664-9T>C http://identifiers.org/clinvar/136365 ^@ NM_000692.4(ALDH1B1):c.757G>A (p.Val253Met) http://identifiers.org/clinvar/186606 ^@ NM_007294.3(BRCA1):c.2872T>C (p.Phe958Leu) http://identifiers.org/clinvar/187645 ^@ NM_032043.2(BRIP1):c.1984G>A (p.Ala662Thr) http://identifiers.org/clinvar/188028 ^@ NM_004409.4(DMPK):c.*224_*226[758] http://identifiers.org/clinvar/188129 ^@ NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) http://identifiers.org/clinvar/188285 ^@ NM_001127500.2(MET):c.1984A>G (p.Ile662Val) http://identifiers.org/clinvar/188337 ^@ NM_001127500.2(MET):c.2198C>T (p.Thr733Ile) http://identifiers.org/clinvar/188231 ^@ NM_025137.3(SPG11):c.6224A>G (p.Asn2075Ser) http://identifiers.org/clinvar/188180 ^@ NM_025137.3(SPG11):c.1347_1348invCA (p.Ile450Val) http://identifiers.org/clinvar/188394 ^@ NM_000267.3(NF1):c.3500T>G (p.Leu1167Ter) http://identifiers.org/clinvar/188548 ^@ NM_000256.3(MYBPC3):c.1377delC (p.Leu460Trpfs) http://identifiers.org/clinvar/188648 ^@ NM_000257.3(MYH7):c.5771G>T (p.Ser1924Ile) http://identifiers.org/clinvar/188598 ^@ NM_000257.3(MYH7):c.531-27C>A http://identifiers.org/clinvar/188698 ^@ NM_001018005.1(TPM1):c.563+28C>T http://identifiers.org/clinvar/188448 ^@ NM_001943.4(DSG2):c.523+24delT http://identifiers.org/clinvar/188498 ^@ NM_001110792.1(MECP2):c.853_871dup19 (p.Ala291Glyfs) http://identifiers.org/clinvar/188798 ^@ NM_000478.5(ALPL):c.542C>T (p.Ser181Leu) http://identifiers.org/clinvar/188748 ^@ NM_000016.5(ACADM):c.850-2A>G http://identifiers.org/clinvar/188848 ^@ NM_000110.3(DPYD):c.61C>T (p.Arg21Ter) http://identifiers.org/clinvar/188999 ^@ NM_000642.2(AGL):c.1391dupG (p.Asp465Argfs) http://identifiers.org/clinvar/189100 ^@ NM_138694.3(PKHD1):c.1830T>A (p.Tyr610Ter) http://identifiers.org/clinvar/188899 ^@ NM_000053.3(ATP7B):c.331C>T (p.Gln111Ter) http://identifiers.org/clinvar/189150 ^@ NM_000159.3(GCDH):c.262C>T (p.Arg88Cys) http://identifiers.org/clinvar/188949 ^@ NM_000487.5(ARSA):c.979+1G>A http://identifiers.org/clinvar/189200 ^@ NM_016035.4(COQ4):c.421C>T (p.Arg141Ter) http://identifiers.org/clinvar/189268 ^@ NM_014795.3(ZEB2):c.404-?_(*5076_?)del http://identifiers.org/clinvar/189323 ^@ NM_032603.4(LOXL3):c.2027G>A (p.Cys676Tyr) http://identifiers.org/clinvar/189475 ^@ NM_000314.6(PTEN):c.253+1G>T http://identifiers.org/clinvar/189415 ^@ NM_000314.6(PTEN):c.610C>G (p.Pro204Ala) http://identifiers.org/clinvar/189540 ^@ NM_003159.2(CDKL5):c.573C>G (p.Ser191=) http://identifiers.org/clinvar/190332 ^@ NM_002055.4(GFAP):c.197G>A (p.Arg66Gln) http://identifiers.org/clinvar/190389 ^@ NM_001288953.1(TTC7A):c.662+1delG http://identifiers.org/clinvar/228555 ^@ NM_004403.2(DFNA5):c.119dupA (p.Lys41Glufs) http://identifiers.org/clinvar/227374 ^@ NM_021167.4(GATAD1):c.436-13delC http://identifiers.org/clinvar/228405 ^@ NM_138691.2(TMC1):c.1236delT (p.Met413Cysfs) http://identifiers.org/clinvar/228455 ^@ NM_004281.3(BAG3):c.362G>A (p.Arg121Gln) http://identifiers.org/clinvar/227223 ^@ NM_022124.5(CDH23):c.3431-6A>T http://identifiers.org/clinvar/228505 ^@ NM_022124.5(CDH23):c.8404A>G (p.Ile2802Val) http://identifiers.org/clinvar/229105 ^@ NM_001277269.1(OTOG):c.7846C>T (p.Arg2616Cys) http://identifiers.org/clinvar/227804 ^@ NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) http://identifiers.org/clinvar/228355 ^@ NM_002180.2(IGHMBP2):c.127C>T (p.Arg43Ter) http://identifiers.org/clinvar/228905 ^@ NM_000257.3(MYH7):c.2704G>A (p.Glu902Lys) http://identifiers.org/clinvar/228605 ^@ NM_018139.2(DNAAF2):c.697G>A (p.Ala233Thr) http://identifiers.org/clinvar/228955 ^@ NM_016239.3(MYO15A):c.467T>C (p.Val156Ala) http://identifiers.org/clinvar/228655 ^@ NM_032975.3(DTNA):c.435G>A (p.Met145Ile) http://identifiers.org/clinvar/227524 ^@ NM_144612.6(LOXHD1):c.4720G>A (p.Glu1574Lys) http://identifiers.org/clinvar/228255 ^@ NM_001399.4(EDA):c.1067C>T (p.Ala356Val) http://identifiers.org/clinvar/227173 ^@ NM_001614.3(ACTG1):c.957C>T (p.Ala319=) http://identifiers.org/clinvar/227474 ^@ NM_002290.4(LAMA4):c.1332C>T (p.Tyr444=) http://identifiers.org/clinvar/227854 ^@ NM_000445.4(PLEC):c.8556C>T (p.Pro2852=) http://identifiers.org/clinvar/228055 ^@ NM_144991.2(TSPEAR):c.714G>A (p.Ala238=) http://identifiers.org/clinvar/229005 ^@ NM_000260.3(MYO7A):c.3283G>A (p.Glu1095Lys) http://identifiers.org/clinvar/234834 ^@ NM_002977.3(SCN9A):c.5530G>A (p.Glu1844Lys) http://identifiers.org/clinvar/234733 ^@ NM_000535.6(PMS2):c.1271T>C (p.Phe424Ser) http://identifiers.org/clinvar/234583 ^@ NM_000834.3(GRIN2B):c.3893T>C (p.Leu1298Pro) http://identifiers.org/clinvar/234884 ^@ NM_000059.3(BRCA2):c.595G>C (p.Ala199Pro) http://identifiers.org/clinvar/234481 ^@ NM_000059.3(BRCA2):c.3762G>T (p.Glu1254Asp) http://identifiers.org/clinvar/233196 ^@ NM_000059.3(BRCA2):c.7547C>G (p.Ser2516Cys) http://identifiers.org/clinvar/234361 ^@ NM_000243.2(MEFV):c.959G>C (p.Gly320Ala) http://identifiers.org/clinvar/234783 ^@ NM_002230.2(JUP):c.490A>G (p.Met164Val) http://identifiers.org/clinvar/234431 ^@ NM_014646.2(LPIN2):c.1631A>G (p.Glu544Gly) http://identifiers.org/clinvar/234309 ^@ NM_001130823.2(DNMT1):c.731G>A (p.Gly244Glu) http://identifiers.org/clinvar/234532 ^@ NM_000214.2(JAG1):c.81+1G>A http://identifiers.org/clinvar/233346 ^@ NM_003000.2(SDHB):c.312C>T (p.Asn104=) http://identifiers.org/clinvar/234049 ^@ NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) http://identifiers.org/clinvar/230146 ^@ NM_001128425.1(MUTYH):c.961G>A (p.Gly321Arg) http://identifiers.org/clinvar/230296 ^@ NM_000465.3(BARD1):c.1914A>G (p.Ala638=) http://identifiers.org/clinvar/230396 ^@ NM_000465.3(BARD1):c.556A>G (p.Ser186Gly) http://identifiers.org/clinvar/229846 ^@ NM_000465.3(BARD1):c.16C>A (p.Gln6Lys) http://identifiers.org/clinvar/230546 ^@ NM_000251.2(MSH2):c.885C>G (p.Asp295Glu) http://identifiers.org/clinvar/230496 ^@ NM_000251.2(MSH2):c.2716A>G (p.Ile906Val) http://identifiers.org/clinvar/233546 ^@ NM_000179.2(MSH6):c.2838A>G (p.Glu946=) http://identifiers.org/clinvar/233949 ^@ NM_000249.3(MLH1):c.799G>A (p.Val267Ile) http://identifiers.org/clinvar/230096 ^@ NM_000038.5(APC):c.4146C>G (p.Leu1382=) http://identifiers.org/clinvar/266639 ^@ NM_000059.3(BRCA2):c.1484dupC (p.Ser496Phefs) http://identifiers.org/clinvar/266689 ^@ NM_000059.3(BRCA2):c.2251dupA (p.Thr751Asnfs) http://identifiers.org/clinvar/266739 ^@ NM_000059.3(BRCA2):c.3217C>T (p.Gln1073Ter) http://identifiers.org/clinvar/266789 ^@ NM_000059.3(BRCA2):c.4051A>T (p.Lys1351Ter) http://identifiers.org/clinvar/266839 ^@ NM_000059.3(BRCA2):c.4939dupA (p.Thr1647Asnfs) http://identifiers.org/clinvar/266889 ^@ NM_000059.3(BRCA2):c.5677_5678insA (p.Cys1893Terfs) http://identifiers.org/clinvar/266939 ^@ NM_000059.3(BRCA2):c.6320delC (p.Pro2107Leufs) http://identifiers.org/clinvar/266989 ^@ NM_000059.3(BRCA2):c.7187T>A (p.Leu2396Ter) http://identifiers.org/clinvar/267039 ^@ NM_000059.3(BRCA2):c.7865dupA (p.Asn2622Lysfs) http://identifiers.org/clinvar/267089 ^@ NM_000059.3(BRCA2):c.8470A>T (p.Arg2824Ter) http://identifiers.org/clinvar/267139 ^@ NM_000059.3(BRCA2):c.9106C>T (p.Gln3036Ter) http://identifiers.org/clinvar/266539 ^@ NM_007294.3(BRCA1):c.5239dupC (p.Gln1747Profs) http://identifiers.org/clinvar/266489 ^@ NM_007294.3(BRCA1):c.4668dupA (p.Asp1557Argfs) http://identifiers.org/clinvar/266439 ^@ NM_007294.3(BRCA1):c.4071delA (p.Glu1358Serfs) http://identifiers.org/clinvar/266389 ^@ NM_007294.3(BRCA1):c.3587dupC (p.His1197Thrfs) http://identifiers.org/clinvar/266339 ^@ NM_007294.3(BRCA1):c.3150_3208dup59 (p.Ala1070Valfs) http://identifiers.org/clinvar/266589 ^@ NM_007294.3(BRCA1):c.874delC (p.Leu292Serfs) http://identifiers.org/clinvar/267200 ^@ NC_000006.10:g.1543591_1675085del131495 http://identifiers.org/clinvar/267262 ^@ NM_000370.3(TTPA):c.552+2T>A http://identifiers.org/clinvar/267341 ^@ NM_000251.2(MSH2):c.1077-?_1276+?del http://identifiers.org/clinvar/267409 ^@ c.9372+1G>A http://identifiers.org/clinvar/267646 ^@ NM_000059.3(BRCA2):c.476-2A>C http://identifiers.org/clinvar/267696 ^@ NM_000059.3(BRCA2):c.8332-1G>A http://identifiers.org/clinvar/267596 ^@ NM_007294.3(BRCA1):c.5331_5332+6delinsCAACAT http://identifiers.org/clinvar/267546 ^@ NM_007294.3(BRCA1):c.442-952_547dup http://identifiers.org/clinvar/267775 ^@ NM_006087.3(TUBB4A):c.544C>A (p.P182T) http://identifiers.org/clinvar/267825 ^@ 46;XY;t(1;9;5)(compleX)dn http://identifiers.org/clinvar/267876 ^@ 46;XY;t(2;6)(q32.3;q25.3)dn http://identifiers.org/clinvar/290918 ^@ NM_001848.2(COL6A1):c.780G>A (p.Gly260=) http://identifiers.org/clinvar/290968 ^@ NM_003742.2(ABCB11):c.1802T>C (p.Leu601Pro) http://identifiers.org/clinvar/291018 ^@ NM_004006.2(DMD):c.1128dupA (p.Asp377Argfs) http://identifiers.org/clinvar/291068 ^@ NM_001458.4(FLNC):c.1425C>T (p.Asn475=) http://identifiers.org/clinvar/291118 ^@ NM_004369.3(COL6A3):c.6879G>A (p.Thr2293=) http://identifiers.org/clinvar/291169 ^@ NM_004369.3(COL6A3):c.4425T>C (p.Val1475=) http://identifiers.org/clinvar/291219 ^@ NM_004006.2(DMD):c.3178C>A (p.Leu1060Met) http://identifiers.org/clinvar/291269 ^@ NM_020631.4(PLEKHG5):c.2319C>T (p.Pro773=) http://identifiers.org/clinvar/291384 ^@ NM_001918.3(DBT):c.*8552_*8553insT http://identifiers.org/clinvar/291434 ^@ NM_001918.3(DBT):c.*2363G>T http://identifiers.org/clinvar/291484 ^@ NM_001854.3(COL11A1):c.*632G>A http://identifiers.org/clinvar/291534 ^@ NM_001854.3(COL11A1):c.1489-5C>A http://identifiers.org/clinvar/291626 ^@ NM_015074.3(KIF1B):c.*2687G>A http://identifiers.org/clinvar/291676 ^@ NM_004565.2(PEX14):c.400C>G (p.Leu134Val) http://identifiers.org/clinvar/291726 ^@ NM_005272.3(GNAT2):c.-131G>A http://identifiers.org/clinvar/291776 ^@ NM_006610.3(MASP2):c.*111C>T http://identifiers.org/clinvar/291584 ^@ NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=) http://identifiers.org/clinvar/291926 ^@ NM_000036.2(AMPD1):c.2246G>A (p.Arg749Gln) http://identifiers.org/clinvar/291826 ^@ NM_013319.2(UBIAD1):c.494T>G (p.Phe165Cys) http://identifiers.org/clinvar/291876 ^@ NM_013319.2(UBIAD1):c.*420C>T http://identifiers.org/clinvar/292226 ^@ NM_005957.4(MTHFR):c.*121C>G http://identifiers.org/clinvar/292276 ^@ NM_000198.3(HSD3B2):c.*397T>A http://identifiers.org/clinvar/292126 ^@ NM_001232.3(CASQ2):c.1120G>A (p.Asp374Asn) http://identifiers.org/clinvar/292576 ^@ NM_019032.5(ADAMTSL4):c.*636C>A http://identifiers.org/clinvar/292076 ^@ NM_138959.2(VANGL1):c.*4504C>T http://identifiers.org/clinvar/291976 ^@ NM_002524.4(NRAS):c.380C>G (p.Thr127Arg) http://identifiers.org/clinvar/292676 ^@ NM_152263.3(TPM3):c.*1291A>G http://identifiers.org/clinvar/292426 ^@ NM_213653.3(HFE2):c.522T>C (p.His174=) http://identifiers.org/clinvar/292176 ^@ NM_005957.4(MTHFR):c.*3189T>G http://identifiers.org/clinvar/292626 ^@ NM_152263.3(TPM3):c.*5755A>G http://identifiers.org/clinvar/292976 ^@ NM_003126.2(SPTA1):c.5093T>C (p.Val1698Ala) http://identifiers.org/clinvar/292726 ^@ NM_001111.4(ADAR):c.*1242A>C http://identifiers.org/clinvar/292326 ^@ NM_005518.3(HMGCS2):c.*6-11_*6-8delGTTT http://identifiers.org/clinvar/292376 ^@ NM_014874.3(MFN2):c.1818C>T (p.Gly606=) http://identifiers.org/clinvar/292476 ^@ NM_005850.4(SF3B4):c.735C>T (p.Pro245=) http://identifiers.org/clinvar/292526 ^@ NM_019032.5(ADAMTSL4):c.1009G>A (p.Ala337Thr) http://identifiers.org/clinvar/292826 ^@ NM_005572.3(LMNA):c.-183C>A http://identifiers.org/clinvar/292776 ^@ NM_001111.4(ADAR):c.1450A>G (p.Ser484Gly) http://identifiers.org/clinvar/292876 ^@ NM_001012331.1(NTRK1):c.428+12C>A http://identifiers.org/clinvar/292926 ^@ NM_003126.2(SPTA1):c.*131_*132dupTG http://identifiers.org/clinvar/293376 ^@ NM_006182.2(DDR2):c.932G>A (p.Ser311Asn) http://identifiers.org/clinvar/293326 ^@ NM_003001.3(SDHC):c.*397G>A http://identifiers.org/clinvar/294515 ^@ NM_000186.3(CFH):c.3050C>T (p.Thr1017Ile) http://identifiers.org/clinvar/294565 ^@ NM_001994.2(F13B):c.*162C>A http://identifiers.org/clinvar/294615 ^@ NM_018136.4(ASPM):c.6736A>G (p.Ile2246Val) http://identifiers.org/clinvar/294715 ^@ NM_000069.2(CACNA1S):c.4546G>C (p.Asp1516His) http://identifiers.org/clinvar/294765 ^@ NM_000069.2(CACNA1S):c.1395C>T (p.Asp465=) http://identifiers.org/clinvar/294865 ^@ NM_001005337.2(PKP1):c.*1498A>G http://identifiers.org/clinvar/294965 ^@ NM_000537.3(REN):c.9A>T (p.Gly3=) http://identifiers.org/clinvar/295165 ^@ NM_005216.4(DDOST):c.-62delG http://identifiers.org/clinvar/295065 ^@ NM_000228.2(LAMB3):c.3318G>C (p.Gln1106His) http://identifiers.org/clinvar/336388 ^@ NM_139279.5(MCFD2):c.-91_-89delGCG http://identifiers.org/clinvar/336538 ^@ NM_001135659.2(NRXN1):c.*319T>C http://identifiers.org/clinvar/343857 ^@ NM_004733.3(SLC33A1):c.*1529C>T http://identifiers.org/clinvar/336438 ^@ NM_000179.2(MSH6):c.-41G>T http://identifiers.org/clinvar/344107 ^@ NM_145860.1(PDCD10):c.*63T>C http://identifiers.org/clinvar/336488 ^@ NM_000145.3(FSHR):c.603C>T (p.Ser201=) http://identifiers.org/clinvar/336788 ^@ NM_002056.3(GFPT1):c.*5514G>T http://identifiers.org/clinvar/336838 ^@ NM_002056.3(GFPT1):c.*2325G>A http://identifiers.org/clinvar/345896 ^@ NM_002222.5(ITPR1):c.*13A>T http://identifiers.org/clinvar/337138 ^@ NM_013247.4(HTRA2):c.1346C>T (p.Thr449Ile) http://identifiers.org/clinvar/345946 ^@ NM_000387.5(SLC25A20):c.-12G>A http://identifiers.org/clinvar/337238 ^@ NM_000821.6(GGCX):c.*781A>C http://identifiers.org/clinvar/337288 ^@ NM_198843.2(SFTPB):c.*1085G>A http://identifiers.org/clinvar/346096 ^@ NM_153281.1(HYAL1):c.-241C>A http://identifiers.org/clinvar/337338 ^@ NM_003896.3(ST3GAL5):c.415G>A (p.Val139Met) http://identifiers.org/clinvar/346546 ^@ NM_032682.5(FOXP1):c.*4369_*4373delTTTTG http://identifiers.org/clinvar/346846 ^@ NM_000306.3(POU1F1):c.90T>A (p.Ser30Arg) http://identifiers.org/clinvar/342807 ^@ NM_000388.3(CASR):c.*87C>T http://identifiers.org/clinvar/342957 ^@ NM_000373.3(UMPS):c.*1319G>A http://identifiers.org/clinvar/346196 ^@ NM_052859.3(RFT1):c.553G>A (p.Ala185Thr) http://identifiers.org/clinvar/343007 ^@ NM_000373.3(UMPS):c.*3414A>G http://identifiers.org/clinvar/346296 ^@ NM_001457.3(FLNB):c.-31C>T http://identifiers.org/clinvar/343057 ^@ NM_025265.3(TSEN2):c.-220G>A http://identifiers.org/clinvar/343257 ^@ NM_052985.3(IFT122):c.2782C>T (p.Arg928Cys) http://identifiers.org/clinvar/343157 ^@ NM_004637.5(RAB7A):c.87G>A (p.Val29=) http://identifiers.org/clinvar/343357 ^@ NM_153240.4(NPHP3):c.*1020T>C http://identifiers.org/clinvar/346496 ^@ NM_000248.3(MITF):c.710+15G>A http://identifiers.org/clinvar/343557 ^@ NM_004628.4(XPC):c.*270A>G http://identifiers.org/clinvar/343307 ^@ NM_000539.3(RHO):c.*1144C>T http://identifiers.org/clinvar/343607 ^@ NM_001184.3(ATR):c.4218G>A (p.Ala1406=) http://identifiers.org/clinvar/343457 ^@ NM_000532.4(PCCB):c.82C>G (p.Leu28Val) http://identifiers.org/clinvar/343507 ^@ NM_024334.2(TMEM43):c.777C>T (p.His259=) http://identifiers.org/clinvar/346696 ^@ NM_002942.4(ROBO2):c.2018G>A (p.Arg673His) http://identifiers.org/clinvar/346746 ^@ NM_002942.4(ROBO2):c.*2104A>G http://identifiers.org/clinvar/343907 ^@ NM_000060.4(BTD):c.200C>G (p.Ser67Cys) http://identifiers.org/clinvar/343657 ^@ NM_000935.2(PLOD2):c.-212C>T http://identifiers.org/clinvar/361861 ^@ NM_004519.3(KCNQ3):c.*753_*754dupCA http://identifiers.org/clinvar/353573 ^@ NM_002310.5(LIFR):c.*2138dupA http://identifiers.org/clinvar/353673 ^@ NM_000436.3(OXCT1):c.-192G>A http://identifiers.org/clinvar/354123 ^@ NM_022132.4(MCCC2):c.*1144A>G http://identifiers.org/clinvar/353823 ^@ NM_002203.3(ITGA2):c.*2450G>A http://identifiers.org/clinvar/362111 ^@ NM_000497.3(CYP11B1):c.*1499C>T http://identifiers.org/clinvar/362161 ^@ NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) http://identifiers.org/clinvar/354173 ^@ NM_003719.3(PDE8B):c.2343C>T (p.Asp781=) http://identifiers.org/clinvar/362211 ^@ NM_000498.3(CYP11B2):c.800-14T>C http://identifiers.org/clinvar/358452 ^@ NM_006348.3(COG5):c.2420A>G (p.Gln807Arg) http://identifiers.org/clinvar/362311 ^@ NM_006765.3(TUSC3):c.426+15C>T http://identifiers.org/clinvar/362461 ^@ NM_005144.4(HR):c.*751G>C http://identifiers.org/clinvar/362611 ^@ NM_006129.4(BMP1):c.*350C>T http://identifiers.org/clinvar/354523 ^@ NM_002890.2(RASA1):c.2259C>T (p.Ala753=) http://identifiers.org/clinvar/354273 ^@ NM_000046.3(ARSB):c.*2080G>A http://identifiers.org/clinvar/354373 ^@ NM_002454.2(MTRR):c.*662T>A http://identifiers.org/clinvar/354773 ^@ NM_001242957.2(MAK):c.*1347C>T http://identifiers.org/clinvar/363650 ^@ NM_000503.5(EYA1):c.1200-11C>A http://identifiers.org/clinvar/363700 ^@ NM_017866.5(TMEM70):c.*425T>A http://identifiers.org/clinvar/364300 ^@ NM_000035.3(ALDOB):c.*289C>G http://identifiers.org/clinvar/364450 ^@ NM_005502.3(ABCA1):c.948G>A (p.Gly316=) http://identifiers.org/clinvar/364500 ^@ NM_001079802.1(FKTN):c.*1276C>T http://identifiers.org/clinvar/356063 ^@ NM_198586.2(NHLRC1):c.*621T>A http://identifiers.org/clinvar/364750 ^@ NM_018249.5(CDK5RAP2):c.5167A>G (p.Asn1723Asp) http://identifiers.org/clinvar/356113 ^@ NM_000367.4(TPMT):c.580+14G>T http://identifiers.org/clinvar/355963 ^@ NM_032122.4(DTNBP1):c.812-13C>T http://identifiers.org/clinvar/365000 ^@ NM_002316.3(LMX1B):c.*4568C>T http://identifiers.org/clinvar/356363 ^@ NM_148919.3(PSMB8):c.686G>A (p.Arg229His) http://identifiers.org/clinvar/356413 ^@ NM_080680.2(COL11A2):c.-92A>G http://identifiers.org/clinvar/365150 ^@ NM_001130438.2(SPTAN1):c.-74C>T http://identifiers.org/clinvar/356513 ^@ NM_182548.3(LHFPL5):c.*465T>C http://identifiers.org/clinvar/356213 ^@ NM_001109809.2(ZFP57):c.798G>A (p.Lys266=) http://identifiers.org/clinvar/356313 ^@ NM_006929.4(SKIV2L):c.279C>G (p.Val93=) http://identifiers.org/clinvar/356463 ^@ NM_003322.5(TULP1):c.*273delC http://identifiers.org/clinvar/365450 ^@ NM_000368.4(TSC1):c.*2558A>G http://identifiers.org/clinvar/356663 ^@ NM_005943.5(MOCS1):c.520G>A (p.Ala174Thr) http://identifiers.org/clinvar/356713 ^@ NM_002098.5(GUCA1B):c.*666G>T http://identifiers.org/clinvar/356813 ^@ NM_014780.4(CUL7):c.*57A>G http://identifiers.org/clinvar/356863 ^@ NM_014780.4(CUL7):c.-272C>T http://identifiers.org/clinvar/361711 ^@ NM_014846.3(WASHC5):c.3423+12_3423+15delATAG http://identifiers.org/clinvar/356913 ^@ NM_006502.2(POLH):c.1870C>G (p.Pro624Ala) http://identifiers.org/clinvar/366290 ^@ NM_002451.3(MTAP):c.*2238C>T http://identifiers.org/clinvar/303142 ^@ NM_018400.3(SCN3B):c.*3282T>C http://identifiers.org/clinvar/367190 ^@ NM_000170.2(GLDC):c.1553C>A (p.Pro518Gln) http://identifiers.org/clinvar/366740 ^@ NM_004629.1(FANCG):c.-311T>A http://identifiers.org/clinvar/303292 ^@ NM_152722.4(HEPACAM):c.*1476C>T http://identifiers.org/clinvar/367419 ^@ NM_033305.2(VPS13A):c.8157T>C (p.Phe2719=) http://identifiers.org/clinvar/303442 ^@ NM_016952.4(CDON):c.*2345_*2349delTATAAinsAACACACACAC http://identifiers.org/clinvar/367469 ^@ NM_058179.3(PSAT1):c.*836A>G http://identifiers.org/clinvar/366890 ^@ NM_001042413.1(GLIS3):c.*3339T>A http://identifiers.org/clinvar/366940 ^@ NM_001042413.1(GLIS3):c.*1002T>C http://identifiers.org/clinvar/367619 ^@ NM_000264.3(PTCH1):c.*3213T>C http://identifiers.org/clinvar/367290 ^@ NM_017662.4(TRPM6):c.*302T>C http://identifiers.org/clinvar/303942 ^@ NM_003282.3(TNNI2):c.*28G>A http://identifiers.org/clinvar/303992 ^@ NM_004211.4(SLC6A5):c.-2A>G http://identifiers.org/clinvar/304831 ^@ NM_002334.3(LRP4):c.*1334dupT http://identifiers.org/clinvar/305383 ^@ NM_016938.4(EFEMP2):c.161-6C>G http://identifiers.org/clinvar/305433 ^@ NM_053054.3(CATSPER1):c.1222C>A (p.Arg408=) http://identifiers.org/clinvar/314479 ^@ NM_004452.3(ESRRB):c.-191T>C http://identifiers.org/clinvar/305633 ^@ NM_000920.3(PC):c.543C>T (p.His181=) http://identifiers.org/clinvar/314679 ^@ NM_004863.3(SPTLC2):c.407G>A (p.Arg136Gln) http://identifiers.org/clinvar/314879 ^@ NM_006329.3(FBLN5):c.388G>A (p.Glu130Lys) http://identifiers.org/clinvar/300253 ^@ NM_000417.2(IL2RA):c.669G>A (p.Gln223=) http://identifiers.org/clinvar/315279 ^@ NM_139057.3(ADAMTS17):c.1889-14C>T http://identifiers.org/clinvar/315329 ^@ NM_139057.3(ADAMTS17):c.-22G>A http://identifiers.org/clinvar/306146 ^@ NM_000260.3(MYO7A):c.-211A>G http://identifiers.org/clinvar/315379 ^@ NM_144599.4(NIPA1):c.*2405A>G http://identifiers.org/clinvar/315429 ^@ NM_022807.4(SNRPN):c.-823T>C http://identifiers.org/clinvar/306246 ^@ NM_024698.5(SLC25A22):c.*712T>C http://identifiers.org/clinvar/300603 ^@ NM_004273.4(CHST3):c.*1256G>A http://identifiers.org/clinvar/306447 ^@ NM_005591.3(MRE11):c.*2703A>G http://identifiers.org/clinvar/300753 ^@ NM_002658.4(PLAU):c.691A>C (p.Lys231Gln) http://identifiers.org/clinvar/306497 ^@ NM_005591.3(MRE11):c.-106+8C>T http://identifiers.org/clinvar/300203 ^@ NM_033056.3(PCDH15):c.575A>G (p.Gln192Arg) http://identifiers.org/clinvar/300803 ^@ NM_014000.2(VCL):c.*355_*356delCT http://identifiers.org/clinvar/329391 ^@ NM_001022.3(RPS19):c.60C>G (p.Ala20=) http://identifiers.org/clinvar/329491 ^@ NM_212550.4(BLOC1S3):c.*1471C>T http://identifiers.org/clinvar/329591 ^@ NM_025136.3(OPA3):c.*4949G>A http://identifiers.org/clinvar/329791 ^@ NM_002103.4(GYS1):c.*1044T>G http://identifiers.org/clinvar/329991 ^@ NM_144687.3(NLRP12):c.*205G>A http://identifiers.org/clinvar/330041 ^@ NM_144687.3(NLRP12):c.609C>T (p.Asp203=) http://identifiers.org/clinvar/330141 ^@ NM_024075.4(TSEN34):c.*815G>A http://identifiers.org/clinvar/330191 ^@ NM_003283.5(TNNT1):c.757G>A (p.Val253Met) http://identifiers.org/clinvar/319210 ^@ NM_032575.2(GLIS2):c.291G>A (p.Ser97=) http://identifiers.org/clinvar/319410 ^@ NM_024589.2(ROGDI):c.-89G>T http://identifiers.org/clinvar/319460 ^@ NM_022162.2(NOD2):c.2147G>A (p.Arg716His) http://identifiers.org/clinvar/338177 ^@ NM_006892.3(DNMT3B):c.1860G>C (p.Gly620=) http://identifiers.org/clinvar/338327 ^@ NM_000557.4(GDF5):c.-220C>T http://identifiers.org/clinvar/319711 ^@ NM_001080432.2(FTO):c.*1380delG http://identifiers.org/clinvar/338377 ^@ NM_005461.4(MAFB):c.*1737A>G http://identifiers.org/clinvar/312690 ^@ NM_022489.3(INF2):c.1587C>T (p.Pro529=) http://identifiers.org/clinvar/319911 ^@ NM_000339.2(SLC12A3):c.1980C>T (p.Asp660=) http://identifiers.org/clinvar/338477 ^@ NM_000457.4(HNF4A):c.*2677_*2683delCTCTTTT http://identifiers.org/clinvar/338577 ^@ NM_001250.5(CD40):c.*85G>T http://identifiers.org/clinvar/320061 ^@ NM_001297.4(CNGB1):c.3378C>T (p.Gly1126=) http://identifiers.org/clinvar/338727 ^@ NM_006420.2(ARFGEF2):c.*1789A>G http://identifiers.org/clinvar/338778 ^@ NM_020436.4(SALL4):c.702G>A (p.Gln234=) http://identifiers.org/clinvar/338878 ^@ NM_002591.3(PCK1):c.538G>A (p.Val180Ile) http://identifiers.org/clinvar/339028 ^@ NM_004738.4(VAPB):c.*6842A>G http://identifiers.org/clinvar/321000 ^@ NM_001127464.2(ZNF469):c.8920A>C (p.Met2974Leu) http://identifiers.org/clinvar/321400 ^@ NM_002386.3(MC1R):c.-535G>A http://identifiers.org/clinvar/321450 ^@ NM_002386.3(MC1R):c.*351T>C http://identifiers.org/clinvar/321554 ^@ NM_000833.4(GRIN2A):c.*3220C>T http://identifiers.org/clinvar/321604 ^@ NM_000833.4(GRIN2A):c.3427G>A (p.Glu1143Lys) http://identifiers.org/clinvar/314229 ^@ NM_182894.2(VSX2):c.*1565G>A http://identifiers.org/clinvar/328352 ^@ NM_000156.5(GAMT):c.133T>A (p.Trp45Arg) http://identifiers.org/clinvar/328402 ^@ NM_000435.2(NOTCH3):c.2738C>T (p.Pro913Leu) http://identifiers.org/clinvar/328552 ^@ NM_000453.2(SLC5A5):c.*256T>C http://identifiers.org/clinvar/327252 ^@ NM_001083962.1(TCF4):c.*3870delA http://identifiers.org/clinvar/327302 ^@ NM_001083962.1(TCF4):c.1577C>A (p.Thr526Lys) http://identifiers.org/clinvar/327452 ^@ NM_005603.4(ATP8B1):c.*776G>A http://identifiers.org/clinvar/327502 ^@ NM_013435.2(RAX):c.*1817A>G http://identifiers.org/clinvar/329291 ^@ NM_181882.2(PRX):c.-20A>C http://identifiers.org/clinvar/327552 ^@ NM_005570.3(LMAN1):c.*1822G>T http://identifiers.org/clinvar/329441 ^@ NM_014297.4(ETHE1):c.376-5G>C http://identifiers.org/clinvar/327702 ^@ NM_133459.3(CCBE1):c.1157G>C (p.Gly386Ala) http://identifiers.org/clinvar/327752 ^@ NM_003839.3(TNFRSF11A):c.*668G>T http://identifiers.org/clinvar/329941 ^@ NM_024729.3(MYH14):c.4487G>A (p.Arg1496Gln) http://identifiers.org/clinvar/328102 ^@ NM_000527.4(LDLR):c.*1453A>G http://identifiers.org/clinvar/328252 ^@ NM_000528.3(MAN2B1):c.2886C>T (p.Arg962=) http://identifiers.org/clinvar/330241 ^@ NM_175614.4(NDUFA11):c.-143C>G http://identifiers.org/clinvar/330291 ^@ NM_000064.3(C3):c.3687C>T (p.Asn1229=) http://identifiers.org/clinvar/329191 ^@ NM_033064.4(ATCAY):c.*2265G>A http://identifiers.org/clinvar/338277 ^@ NM_000687.3(AHCY):c.445+11C>T http://identifiers.org/clinvar/329341 ^@ NM_030578.3(B9D2):c.469G>C (p.Val157Leu) http://identifiers.org/clinvar/329541 ^@ NM_206900.2(RTN2):c.*344C>T http://identifiers.org/clinvar/329641 ^@ NM_025136.3(OPA3):c.*2485G>A http://identifiers.org/clinvar/338677 ^@ NM_006420.2(ARFGEF2):c.-68C>A http://identifiers.org/clinvar/329691 ^@ NM_000554.5(CRX):c.-55C>T http://identifiers.org/clinvar/338928 ^@ NM_004738.4(VAPB):c.-12C>T http://identifiers.org/clinvar/329841 ^@ NM_017636.3(TRPM4):c.243G>A (p.Thr81=) http://identifiers.org/clinvar/338978 ^@ NM_004738.4(VAPB):c.*3628A>G http://identifiers.org/clinvar/329891 ^@ NM_007254.3(PNKP):c.1390C>A (p.Arg464=) http://identifiers.org/clinvar/339278 ^@ NM_001853.3(COL9A3):c.800G>A (p.Arg267Gln) http://identifiers.org/clinvar/330091 ^@ NM_015629.3(PRPF31):c.-21G>T http://identifiers.org/clinvar/330491 ^@ NM_020533.2(MCOLN1):c.558G>A (p.Pro186=) http://identifiers.org/clinvar/330541 ^@ NM_006702.4(PNPLA6):c.*20C>T http://identifiers.org/clinvar/340317 ^@ NM_001848.2(COL6A1):c.1336-15C>T http://identifiers.org/clinvar/338227 ^@ NM_003098.2(SNTA1):c.-255G>C http://identifiers.org/clinvar/340367 ^@ NM_001849.3(COL6A2):c.1599C>T (p.Arg533=) http://identifiers.org/clinvar/338527 ^@ NM_000308.3(CTSA):c.373G>A (p.Gly125Ser) http://identifiers.org/clinvar/340718 ^@ NM_014339.6(IL17RA):c.*4827A>G http://identifiers.org/clinvar/340768 ^@ NM_017929.5(PEX26):c.*692T>C http://identifiers.org/clinvar/340918 ^@ NM_003073.4(SMARCB1):c.*17C>T http://identifiers.org/clinvar/338828 ^@ NM_000782.4(CYP24A1):c.640+15C>G http://identifiers.org/clinvar/341018 ^@ NM_022081.5(HPS4):c.687G>A (p.Glu229=) http://identifiers.org/clinvar/341068 ^@ NM_000268.3(NF2):c.600-13G>A http://identifiers.org/clinvar/339128 ^@ NM_207034.2(EDN3):c.*44T>C http://identifiers.org/clinvar/339178 ^@ NM_017671.4(FERMT1):c.*1777dupT http://identifiers.org/clinvar/341268 ^@ NM_000343.3(SLC5A1):c.*155C>T http://identifiers.org/clinvar/339328 ^@ NM_172107.3(KCNQ2):c.2469C>T (p.Ala823=) http://identifiers.org/clinvar/339378 ^@ NM_025219.2(DNAJC5):c.*909G>T http://identifiers.org/clinvar/339428 ^@ NM_025219.2(DNAJC5):c.*3432G>A http://identifiers.org/clinvar/341568 ^@ NM_153609.3(TMPRSS6):c.*580C>G http://identifiers.org/clinvar/341618 ^@ NM_006941.3(SOX10):c.746T>A (p.Leu249Gln) http://identifiers.org/clinvar/341868 ^@ NM_001429.3(EP300):c.*930A>C http://identifiers.org/clinvar/341968 ^@ NM_006953.3(UPK3A):c.-25G>C http://identifiers.org/clinvar/342018 ^@ NM_018006.4(TRMU):c.1188C>G (p.Gly396=) http://identifiers.org/clinvar/385270 ^@ NM_000093.4(COL5A1):c.2484+6C>T http://identifiers.org/clinvar/392997 ^@ NM_001278.4(CHUK):c.1958T>G (p.Leu653Arg) http://identifiers.org/clinvar/387459 ^@ NM_001134363.2(RBM20):c.2388C>G (p.Pro796=) http://identifiers.org/clinvar/378882 ^@ NM_000535.6(PMS2):c.2346C>T (p.Asp782=) http://identifiers.org/clinvar/381225 ^@ NM_000051.3(ATM):c.8217G>T (p.Leu2739=) http://identifiers.org/clinvar/380623 ^@ NM_203447.3(DOCK8):c.3636C>T (p.Ala1212=) http://identifiers.org/clinvar/387109 ^@ NM_000136.2(FANCC):c.*14C>T http://identifiers.org/clinvar/381675 ^@ NM_194456.1(KRIT1):c.301G>A (p.Gly101Arg) http://identifiers.org/clinvar/381625 ^@ NM_130799.2(MEN1):c.467G>A (p.Gly156Asp) http://identifiers.org/clinvar/387409 ^@ NM_000445.4(PLEC):c.8811G>A (p.Val2937=) http://identifiers.org/clinvar/378982 ^@ NM_000051.3(ATM):c.1266G>A (p.Lys422=) http://identifiers.org/clinvar/385770 ^@ NM_000051.3(ATM):c.4109+11T>C http://identifiers.org/clinvar/381075 ^@ NM_017866.5(TMEM70):c.675C>T (p.Leu225=) http://identifiers.org/clinvar/382817 ^@ NM_020297.3(ABCC9):c.2608A>T (p.Thr870Ser) http://identifiers.org/clinvar/379632 ^@ NM_000218.2(KCNQ1):c.552C>T (p.Tyr184=) http://identifiers.org/clinvar/390308 ^@ NM_000256.3(MYBPC3):c.2556C>T (p.Ile852=) http://identifiers.org/clinvar/377972 ^@ NM_002180.2(IGHMBP2):c.276C>T (p.Tyr92=) http://identifiers.org/clinvar/391058 ^@ NM_002180.2(IGHMBP2):c.1236-10C>T http://identifiers.org/clinvar/381425 ^@ NM_024678.5(NARS2):c.26G>C (p.Arg9Pro) http://identifiers.org/clinvar/390858 ^@ NM_000093.4(COL5A1):c.*8C>T http://identifiers.org/clinvar/381826 ^@ NM_002496.3(NDUFS8):c.372+11G>T http://identifiers.org/clinvar/380874 ^@ NM_001273.3(CHD4):c.2897T>A (p.Met966Lys) http://identifiers.org/clinvar/384820 ^@ NM_003276.2(TMPO):c.868A>G (p.Lys290Glu) http://identifiers.org/clinvar/381275 ^@ NM_030962.3(SBF2):c.5310A>G (p.Thr1770=) http://identifiers.org/clinvar/387309 ^@ NM_001376.4(DYNC1H1):c.8259C>T (p.Arg2753=) http://identifiers.org/clinvar/387209 ^@ NM_003383.4(VLDLR):c.1788A>G (p.Thr596=) http://identifiers.org/clinvar/381025 ^@ NM_004572.3(PKP2):c.504C>T (p.Tyr168=) http://identifiers.org/clinvar/379132 ^@ NM_004572.3(PKP2):c.307C>A (p.Pro103Thr) http://identifiers.org/clinvar/389908 ^@ NM_000059.3(BRCA2):c.1107T>C (p.Asn369=) http://identifiers.org/clinvar/385070 ^@ NM_001482.2(GATM):c.484+19C>T http://identifiers.org/clinvar/378224 ^@ NM_032578.3(MYPN):c.1245+16C>T http://identifiers.org/clinvar/391608 ^@ NM_001130103.1(COL13A1):c.1990G>A (p.Gly664Ser) http://identifiers.org/clinvar/384419 ^@ NM_001613.2(ACTA2):c.296C>G (p.Ala99Gly) http://identifiers.org/clinvar/384119 ^@ NM_000059.3(BRCA2):c.3423A>G (p.Thr1141=) http://identifiers.org/clinvar/390558 ^@ NM_000051.3(ATM):c.2839-16C>T http://identifiers.org/clinvar/383418 ^@ NM_000051.3(ATM):c.2921+15C>A http://identifiers.org/clinvar/391558 ^@ NM_001376.4(DYNC1H1):c.8199C>T (p.Val2733=) http://identifiers.org/clinvar/392797 ^@ NM_005566.3(LDHA):c.285G>A (p.Thr95=) http://identifiers.org/clinvar/384620 ^@ NM_022489.3(INF2):c.1950-10C>T http://identifiers.org/clinvar/386859 ^@ NM_022489.3(INF2):c.2766C>T (p.Arg922=) http://identifiers.org/clinvar/379282 ^@ NM_004360.4(CDH1):c.48+13C>T http://identifiers.org/clinvar/378479 ^@ NM_000326.4(RLBP1):c.684+20C>T http://identifiers.org/clinvar/384369 ^@ NM_002693.2(POLG):c.2735-17T>G http://identifiers.org/clinvar/393247 ^@ NM_020778.4(ALPK3):c.1501G>A (p.Ala501Thr) http://identifiers.org/clinvar/47924 ^@ NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) http://identifiers.org/clinvar/48026 ^@ NM_005709.3(USH1C):c.908G>A (p.Arg303Gln) http://identifiers.org/clinvar/48076 ^@ NM_170707.3(LMNA):c.725C>T (p.Ala242Val) http://identifiers.org/clinvar/48126 ^@ NM_173477.4(USH1G):c.1258C>G (p.Leu420Val) http://identifiers.org/clinvar/48176 ^@ NM_194248.2(OTOF):c.1630C>T (p.Arg544Cys) http://identifiers.org/clinvar/48226 ^@ NM_194248.2(OTOF):c.37C>T (p.Leu13=) http://identifiers.org/clinvar/48276 ^@ NM_194248.2(OTOF):c.828C>A (p.Cys276Ter) http://identifiers.org/clinvar/48327 ^@ NM_201555.1(FHL2):c.688+12G>T http://identifiers.org/clinvar/48377 ^@ NM_206933.2(USH2A):c.11504C>T (p.Thr3835Ile) http://identifiers.org/clinvar/48427 ^@ NM_206933.2(USH2A):c.14074G>A (p.Gly4692Arg) http://identifiers.org/clinvar/48477 ^@ NM_206933.2(USH2A):c.1877G>A (p.Arg626Gln) http://identifiers.org/clinvar/63 ^@ NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro) http://identifiers.org/clinvar/88 ^@ NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter) http://identifiers.org/clinvar/121 ^@ NM_000071.2(CBS):c.415G>A (p.Gly139Arg) http://identifiers.org/clinvar/639 ^@ NM_000277.1(PAH):c.227A>G (p.Glu76Gly) http://identifiers.org/clinvar/648 ^@ F5, 8-BP DEL, NT1131 http://identifiers.org/clinvar/680 ^@ NM_000312.3(PROC):c.935C>T (p.Ser312Leu) http://identifiers.org/clinvar/820 ^@ NM_000038.5(APC):c.5942delA (p.Asn1981Ilefs) http://identifiers.org/clinvar/852 ^@ NM_080669.5(SLC46A1):c.337C>A (p.Arg113Ser) http://identifiers.org/clinvar/889 ^@ FOXD3, -639G-T http://identifiers.org/clinvar/1165 ^@ NM_000505.3(F12):c.1115G>C (p.Arg372Pro) http://identifiers.org/clinvar/1260 ^@ NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) http://identifiers.org/clinvar/1305 ^@ NM_001174089.1(SLC4A11):c.1418C>T (p.Ser473Leu) http://identifiers.org/clinvar/1350 ^@ NM_001199922.1(SIAE):c.830C>T (p.Thr277Met) http://identifiers.org/clinvar/1397 ^@ NM_018418.4(SPATA7):c.1183C>T (p.Arg395Ter) http://identifiers.org/clinvar/1441 ^@ HMBS, IVS1DS, G-A, +1 http://identifiers.org/clinvar/1487 ^@ NM_205850.2(SLC24A5):c.331A= (p.Thr111=) http://identifiers.org/clinvar/1532 ^@ NM_000237.2(LPL):c.506G>A (p.Gly169Glu) http://identifiers.org/clinvar/1578 ^@ NM_052910.2(SLITRK1):c.1264delC (p.Leu422Phefs) http://identifiers.org/clinvar/1623 ^@ NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp) http://identifiers.org/clinvar/1672 ^@ NM_000785.3(CYP27B1):c.1165C>G (p.Arg389Gly) http://identifiers.org/clinvar/1717 ^@ NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) http://identifiers.org/clinvar/1765 ^@ MSH2, 24-BP INS http://identifiers.org/clinvar/1813 ^@ NM_152594.2(SPRED1):c.190C>T (p.Arg64Ter) http://identifiers.org/clinvar/1859 ^@ NM_001164730.1(REEP1):c.533delC (p.Pro178Hisfs) http://identifiers.org/clinvar/10164 ^@ NM_000132.3(F8):c.275G>T (p.Gly92Val) http://identifiers.org/clinvar/10209 ^@ NM_000132.3(F8):c.1226A>G (p.Glu409Gly) http://identifiers.org/clinvar/10254 ^@ NM_000132.3(F8):c.3692delC (p.Pro1231Leufs) http://identifiers.org/clinvar/10979 ^@ NM_001032383.1(PQBP1):c.461_462dupAG (p.Arg155Serfs) http://identifiers.org/clinvar/11022 ^@ NM_001184880.1(PCDH19):c.1671C>G (p.Asn557Lys) http://identifiers.org/clinvar/11068 ^@ NM_001015877.1(PHF6):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/11112 ^@ NM_000116.4(TAZ):c.647-1G>C http://identifiers.org/clinvar/11159 ^@ NM_000074.2(CD40LG):c.680G>T (p.Gly227Val) http://identifiers.org/clinvar/11203 ^@ ARX, 24-BP DEL, NT441 http://identifiers.org/clinvar/11249 ^@ NM_004006.2(DMD):c.1952G>A (p.Trp651Ter) http://identifiers.org/clinvar/11294 ^@ ABCD1, IVS6AS, A-G, -2 http://identifiers.org/clinvar/11339 ^@ NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) http://identifiers.org/clinvar/11385 ^@ NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) http://identifiers.org/clinvar/12206 ^@ NM_000490.4(AVP):c.55G>A (p.Ala19Thr) http://identifiers.org/clinvar/12257 ^@ NM_003361.3(UMOD):c.307G>T (p.Gly103Cys) http://identifiers.org/clinvar/12309 ^@ NTRK1, 1-BP INS, 1926T http://identifiers.org/clinvar/12359 ^@ NM_000546.5(TP53):c.722C>T (p.Ser241Phe) http://identifiers.org/clinvar/12410 ^@ TNNT2, IVS15, G-A, +1 http://identifiers.org/clinvar/12462 ^@ NM_003289.3(TPM2):c.349G>A (p.Glu117Lys) http://identifiers.org/clinvar/12512 ^@ NM_003242.5(TGFBR2):c.1582C>T (p.Arg528Cys) http://identifiers.org/clinvar/12562 ^@ NM_001128177.1(THRB):c.959G>T (p.Arg320Leu) http://identifiers.org/clinvar/12613 ^@ NM_005343.3(HRAS):c.34G>T (p.Gly12Cys) http://identifiers.org/clinvar/12663 ^@ NM_212472.2(PRKAR1A):c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) http://identifiers.org/clinvar/12714 ^@ NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) http://identifiers.org/clinvar/12765 ^@ SURF1, 2-BP DEL, 550AG http://identifiers.org/clinvar/12815 ^@ NM_003106.3(SOX2):c.277G>T (p.Glu93Ter) http://identifiers.org/clinvar/12865 ^@ SPTA1, IVS22DS, G-A, +5 http://identifiers.org/clinvar/12916 ^@ NM_152296.4(ATP1A3):c.*196_*198dupCTC http://identifiers.org/clinvar/12966 ^@ NM_000540.2(RYR1):c.7304G>A (p.Arg2435His) http://identifiers.org/clinvar/13017 ^@ RHO, 3-BP DEL http://identifiers.org/clinvar/13068 ^@ NM_006744.3(RBP4):c.278G>A (p.Gly93Asp) http://identifiers.org/clinvar/13119 ^@ NM_000329.2(RPE65):c.394G>A (p.Ala132Thr) http://identifiers.org/clinvar/13170 ^@ NM_000322.4(PRPH2):c.514C>T (p.Arg172Trp) http://identifiers.org/clinvar/13221 ^@ NM_000055.3(BCHE):c.1574A>T (p.Glu525Val) http://identifiers.org/clinvar/13272 ^@ NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) http://identifiers.org/clinvar/13323 ^@ NM_000313.3(PROS1):c.1681C>G (p.Arg561Gly) http://identifiers.org/clinvar/13373 ^@ PSAP, IVS9AS, A-G, -2 http://identifiers.org/clinvar/13427 ^@ NM_000371.3(TTR):c.328C>A (p.His110Asn) http://identifiers.org/clinvar/13479 ^@ NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) http://identifiers.org/clinvar/13529 ^@ NM_000174.4(GP9):c.182A>G (p.Asn61Ser) http://identifiers.org/clinvar/36652 ^@ NM_033118.3(MYLK2):c.430C>G (p.Pro144Ala) http://identifiers.org/clinvar/36705 ^@ NM_002769.4(PRSS1):c.398C>G (p.Pro133Arg) http://identifiers.org/clinvar/36758 ^@ NM_000335.4(SCN5A):c.2436+12G>A http://identifiers.org/clinvar/36808 ^@ NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) http://identifiers.org/clinvar/36858 ^@ NM_004612.3(TGFBR1):c.344-74delT http://identifiers.org/clinvar/36909 ^@ NM_000377.2(WAS):c.273+10_273+11dupCC http://identifiers.org/clinvar/37004 ^@ NM_001244008.1(KIF1A):c.1048C>G (p.Arg350Gly) http://identifiers.org/clinvar/37084 ^@ NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) http://identifiers.org/clinvar/37170 ^@ NM_005630.2(SLCO2A1):c.253A>T (p.Ile85Phe) http://identifiers.org/clinvar/37298 ^@ NM_014956.4(CEP164):c.1726C>T (p.Arg576Ter) http://identifiers.org/clinvar/37383 ^@ NM_005732.3(RAD50):c.2585A>G (p.His862Arg) http://identifiers.org/clinvar/37434 ^@ NM_007294.3(BRCA1):c.1921dupA (p.Ile641Asnfs) http://identifiers.org/clinvar/37486 ^@ NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile) http://identifiers.org/clinvar/37544 ^@ NM_007294.3(BRCA1):c.3759_3760delTA (p.Lys1254Glufs) http://identifiers.org/clinvar/38879 ^@ NM_000532.4(PCCB):c.1534C>T (p.Arg512Cys) http://identifiers.org/clinvar/38940 ^@ NM_001363.4(DKC1):c.121G>A (p.Glu41Lys) http://identifiers.org/clinvar/39463 ^@ STXBP1, 1-BP DEL, 1206T http://identifiers.org/clinvar/39514 ^@ SMN1, DEL http://identifiers.org/clinvar/39564 ^@ NM_018706.6(DHTKD1):c.2185G>A (p.Gly729Arg) http://identifiers.org/clinvar/39615 ^@ NM_015454.2(LARP7):c.1024_1030dupAAGGATA (p.Thr344Lysfs) http://identifiers.org/clinvar/39666 ^@ GATAD2B, ASN195LYSfsTER30 http://identifiers.org/clinvar/39718 ^@ NM_001927.3(DES):c.1255C>T (p.Pro419Ser) http://identifiers.org/clinvar/39769 ^@ NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) http://identifiers.org/clinvar/39819 ^@ NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) http://identifiers.org/clinvar/39870 ^@ NM_018344.5(SLC29A3):c.1157G>A (p.Arg386Gln) http://identifiers.org/clinvar/40063 ^@ NM_014332.2(SMPX):c.99delC (p.Arg34Glufs) http://identifiers.org/clinvar/40209 ^@ NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs) http://identifiers.org/clinvar/40348 ^@ NM_004333.4(BRAF):c.735A>T (p.Leu245Phe) http://identifiers.org/clinvar/40420 ^@ NM_005188.3(CBL):c.2312A>T (p.Asp771Val) http://identifiers.org/clinvar/40488 ^@ NM_002834.4(PTPN11):c.174C>A (p.Asn58Lys) http://identifiers.org/clinvar/40546 ^@ NM_002834.4(PTPN11):c.1381G>T (p.Ala461Ser) http://identifiers.org/clinvar/40607 ^@ NM_002880.3(RAF1):c.788T>G (p.Val263Gly) http://identifiers.org/clinvar/40680 ^@ NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) http://identifiers.org/clinvar/40769 ^@ NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) http://identifiers.org/clinvar/41030 ^@ NM_000744.6(CHRNA4):c.870_872dupGCT (p.Leu291_Ile292insLeu) http://identifiers.org/clinvar/41086 ^@ NM_003611.2(OFD1):c.1821delG (p.Ile608Serfs) http://identifiers.org/clinvar/41143 ^@ NM_003611.2(OFD1):c.710dupA (p.Tyr238Valfs) http://identifiers.org/clinvar/41195 ^@ NM_003977.3(AIP):c.662dupC (p.Glu222Terfs) http://identifiers.org/clinvar/52447 ^@ NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) http://identifiers.org/clinvar/52497 ^@ NM_000059.3(BRCA2):c.8072C>T (p.Ser2691Phe) http://identifiers.org/clinvar/52548 ^@ NM_000059.3(BRCA2):c.8327T>G (p.Leu2776Ter) http://identifiers.org/clinvar/54013 ^@ NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) http://identifiers.org/clinvar/54063 ^@ NM_000492.3(CFTR):c.80delG (p.Gly27Aspfs) http://identifiers.org/clinvar/54115 ^@ NM_007294.3(BRCA1):c.1067delA (p.Gln356Argfs) http://identifiers.org/clinvar/54165 ^@ NM_007294.3(BRCA1):c.1217delA (p.Asn406Metfs) http://identifiers.org/clinvar/54215 ^@ NM_007294.3(BRCA1):c.135-1G>C http://identifiers.org/clinvar/54265 ^@ NM_007294.3(BRCA1):c.1472A>G (p.Gln491Arg) http://identifiers.org/clinvar/54316 ^@ NM_007294.3(BRCA1):c.1642A>G (p.Ile548Val) http://identifiers.org/clinvar/54367 ^@ NM_007294.3(BRCA1):c.1834A>G (p.Arg612Gly) http://identifiers.org/clinvar/54417 ^@ NM_007294.3(BRCA1):c.1961dupA (p.Tyr655Valfs) http://identifiers.org/clinvar/54467 ^@ NM_007294.3(BRCA1):c.212+3A>G http://identifiers.org/clinvar/54517 ^@ NM_007294.3(BRCA1):c.2263delG (p.Glu755Lysfs) http://identifiers.org/clinvar/54567 ^@ NM_007294.3(BRCA1):c.2428A>T (p.Asn810Tyr) http://identifiers.org/clinvar/54617 ^@ NM_007294.3(BRCA1):c.2611_2612delCC (p.Pro871Valfs) http://identifiers.org/clinvar/54667 ^@ NM_007294.3(BRCA1):c.2740G>T (p.Glu914Ter) http://identifiers.org/clinvar/54717 ^@ NM_007294.3(BRCA1):c.2917C>G (p.Leu973Val) http://identifiers.org/clinvar/54767 ^@ NM_007294.3(BRCA1):c.3080G>A (p.Ser1027Asn) http://identifiers.org/clinvar/54817 ^@ NM_007294.3(BRCA1):c.3285delA (p.Lys1095Asnfs) http://identifiers.org/clinvar/54867 ^@ NM_007294.3(BRCA1):c.3398T>G (p.Leu1133Ter) http://identifiers.org/clinvar/54917 ^@ NM_007294.3(BRCA1):c.3560G>A (p.Ser1187Asn) http://identifiers.org/clinvar/54969 ^@ NM_007294.3(BRCA1):c.3706_3713delAATATACC (p.Asn1236Phefs) http://identifiers.org/clinvar/55020 ^@ NM_007294.3(BRCA1):c.3835G>A (p.Ala1279Thr) http://identifiers.org/clinvar/55070 ^@ NM_007294.3(BRCA1):c.3999delT (p.Gly1334Valfs) http://identifiers.org/clinvar/55121 ^@ NM_007294.3(BRCA1):c.4167_4170delTGAC (p.Ser1389Argfs) http://identifiers.org/clinvar/55172 ^@ NM_007294.3(BRCA1):c.4335_4338dupAGAA (p.Gln1447Argfs) http://identifiers.org/clinvar/55223 ^@ NM_007294.3(BRCA1):c.4533_4534delCA (p.His1511Glnfs) http://identifiers.org/clinvar/55273 ^@ NM_007294.3(BRCA1):c.472A>T (p.Asn158Tyr) http://identifiers.org/clinvar/55324 ^@ NM_007294.3(BRCA1):c.493delC (p.Leu165Terfs) http://identifiers.org/clinvar/56082 ^@ NM_000170.2(GLDC):c.255+1G>A http://identifiers.org/clinvar/56136 ^@ NM_000274.3(OAT):c.800C>T (p.Thr267Ile) http://identifiers.org/clinvar/56187 ^@ NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) http://identifiers.org/clinvar/56237 ^@ NM_000481.3(AMT):c.63delC (p.Leu22Cysfs) http://identifiers.org/clinvar/56288 ^@ NM_001042432.1(CLN3):c.631C>T (p.Gln211Ter) http://identifiers.org/clinvar/56340 ^@ NM_001081.3(CUBN):c.434G>A (p.Gly145Glu) http://identifiers.org/clinvar/56391 ^@ NM_002299.3(LCT):c.4998_5001delTGAG (p.Ser1666Argfs) http://identifiers.org/clinvar/56442 ^@ NM_004646.3(NPHS1):c.1555C>T (p.Pro519Ser) http://identifiers.org/clinvar/56543 ^@ NM_006493.2(CLN5):c.669dupC (p.Trp224Leufs) http://identifiers.org/clinvar/56596 ^@ NM_017739.3(POMGNT1):c.1928delT (p.Phe643Serfs) http://identifiers.org/clinvar/56651 ^@ NM_017890.4(VPS13B):c.219_220delACinsT (p.Lys73Asnfs) http://identifiers.org/clinvar/56701 ^@ NM_017890.4(VPS13B):c.9706delT (p.Tyr3236Ilefs) http://identifiers.org/clinvar/56751 ^@ NM_030943.3(AMN):c.208-2A>G http://identifiers.org/clinvar/56827 ^@ NM_014795.3(ZEB2):c.3134A>G (p.His1045Arg) http://identifiers.org/clinvar/57011 ^@ GRCh38/hg38 18q22.1(chr18:68059968-68865306)x3 http://identifiers.org/clinvar/57063 ^@ GRCh38/hg38 Xp22.33(chrX:10679-868396)x1 http://identifiers.org/clinvar/57120 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 http://identifiers.org/clinvar/57171 ^@ GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1 http://identifiers.org/clinvar/57223 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/57276 ^@ GRCh38/hg38 5q13.2(chr5:70436365-71090773)x3 http://identifiers.org/clinvar/57329 ^@ GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1 http://identifiers.org/clinvar/57382 ^@ GRCh38/hg38 17q12(chr17:36357258-37889296)x1 http://identifiers.org/clinvar/101199 ^@ NM_000090.3(COL3A1):c.3509G>T (p.Gly1170Val) http://identifiers.org/clinvar/101249 ^@ NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp) http://identifiers.org/clinvar/101299 ^@ NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) http://identifiers.org/clinvar/101349 ^@ NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) http://identifiers.org/clinvar/101399 ^@ NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp) http://identifiers.org/clinvar/101449 ^@ NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp) http://identifiers.org/clinvar/101501 ^@ NG_046916.1:g.5125_5142delinsTCGGCAGCGGCACAGCGAGG[12] http://identifiers.org/clinvar/102462 ^@ NM_000277.1(PAH):c.-4173_-407del3767 http://identifiers.org/clinvar/102514 ^@ NM_000277.1(PAH):c.1069T>G (p.Cys357Gly) http://identifiers.org/clinvar/102570 ^@ NM_000277.1(PAH):c.1220delC (p.Pro407Leufs) http://identifiers.org/clinvar/102622 ^@ NM_000277.1(PAH):c.193A>G (p.Ile65Val) http://identifiers.org/clinvar/102677 ^@ NM_000277.1(PAH):c.442-5C>G http://identifiers.org/clinvar/102727 ^@ NM_000277.1(PAH):c.529G>C (p.Val177Leu) http://identifiers.org/clinvar/102778 ^@ NM_000277.1(PAH):c.672T>G (p.Ile224Met) http://identifiers.org/clinvar/102828 ^@ NM_000277.1(PAH):c.769G>T (p.Gly257Cys) http://identifiers.org/clinvar/102880 ^@ NM_000277.1(PAH):c.856G>A (p.Glu286Lys) http://identifiers.org/clinvar/102938 ^@ NM_021209.4(NLRC4):c.-481G>T http://identifiers.org/clinvar/102988 ^@ NM_153447.4(NLRP5):c.-91G>A http://identifiers.org/clinvar/103038 ^@ NM_001079821.2(NLRP3):c.284-28G>A http://identifiers.org/clinvar/103088 ^@ NM_006092.2(NOD1):c.-234G>A http://identifiers.org/clinvar/125631 ^@ NM_007294.3(BRCA1):c.3357delT (p.Val1120Leufs) http://identifiers.org/clinvar/125698 ^@ NM_007294.3(BRCA1):c.4214delT (p.Ile1405Lysfs) http://identifiers.org/clinvar/125761 ^@ NM_007294.3(BRCA1):c.5075-9A>T http://identifiers.org/clinvar/125839 ^@ NM_007294.3(BRCA1):c.5406+53A>T http://identifiers.org/clinvar/125898 ^@ NM_007294.3(BRCA1):c.594-4A>G http://identifiers.org/clinvar/125962 ^@ NM_000059.3(BRCA2):c.1796C= (p.Ser599=) http://identifiers.org/clinvar/126024 ^@ K1285del http://identifiers.org/clinvar/126098 ^@ NM_000059.3(BRCA2):c.426-89T>C http://identifiers.org/clinvar/126158 ^@ NM_000059.3(BRCA2):c.7806-14T>C http://identifiers.org/clinvar/126226 ^@ NM_001080522.2(CC2D2A):c.-53+37G>C http://identifiers.org/clinvar/126276 ^@ NM_015272.4(RPGRIP1L):c.2959-32G>A http://identifiers.org/clinvar/126327 ^@ NM_020732.3(ARID1B):c.360_362dupGCA (p.Gln131_His132insGln) http://identifiers.org/clinvar/126383 ^@ NM_005603.4(ATP8B1):c.625C>A (p.Pro209Thr) http://identifiers.org/clinvar/126447 ^@ NM_020949.2(SLC7A14):c.2122T>G (p.Phe708Val) http://identifiers.org/clinvar/126507 ^@ NM_000387.5(SLC25A20):c.576G>A (p.Trp192Ter) http://identifiers.org/clinvar/126588 ^@ NM_024675.3(PALB2):c.109-59C>G http://identifiers.org/clinvar/126638 ^@ NM_024675.3(PALB2):c.2145_2146delTA (p.Asp715Glufs) http://identifiers.org/clinvar/126690 ^@ NM_024675.3(PALB2):c.2837C>G (p.Ala946Gly) http://identifiers.org/clinvar/126740 ^@ NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) http://identifiers.org/clinvar/126791 ^@ NM_000321.2(RB1):c.1960+5G>A http://identifiers.org/clinvar/126842 ^@ NM_000321.2(RB1):c.1695+1G>A http://identifiers.org/clinvar/126901 ^@ NM_007194.3(CHEK2):c.1008+71A>G http://identifiers.org/clinvar/126951 ^@ NM_000428.2(LTBP2):c.1553G>T (p.Ser518Ile) http://identifiers.org/clinvar/127001 ^@ NM_005732.3(RAD50):c.3164+35C>T http://identifiers.org/clinvar/127051 ^@ NM_134424.3(RAD52):c.*318C>A http://identifiers.org/clinvar/127108 ^@ NM_005013.2(NUCB2):c.-406C>G http://identifiers.org/clinvar/127189 ^@ NM_178014.3(TUBB):c.895A>G (p.Met299Val) http://identifiers.org/clinvar/127275 ^@ NM_000038.5(APC):c.1213C>T (p.Arg405Ter) http://identifiers.org/clinvar/127736 ^@ NM_000465.3(BARD1):c.2291T>C (p.Ile764Thr) http://identifiers.org/clinvar/159475 ^@ NM_002547.2(OPHN1):c.2079G>A (p.Met693Ile) http://identifiers.org/clinvar/161383 ^@ NM_001035.2(RYR2):c.1396C>G (p.Pro466Ala) http://identifiers.org/clinvar/161333 ^@ NM_000312.3(PROC):c.125G>A (p.Arg42His) http://identifiers.org/clinvar/161233 ^@ NM_000118.3(ENG):c.640G>A (p.Gly214Ser) http://identifiers.org/clinvar/161283 ^@ NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) http://identifiers.org/clinvar/161450 ^@ NM_001853.3(COL9A3):c.1176_1198del23 (p.Gln393Cysfs) http://identifiers.org/clinvar/161802 ^@ NM_138391.4(TMEM183A):c.708+1G>A http://identifiers.org/clinvar/161752 ^@ NM_021911.2(GABRB2):c.577C>T (p.Arg193Cys) http://identifiers.org/clinvar/161652 ^@ NM_006833.4(COPS6):c.631A>C (p.Ser211Arg) http://identifiers.org/clinvar/161552 ^@ NM_001178133.1(SUFU):c.875G>A (p.Cys292Tyr) http://identifiers.org/clinvar/161502 ^@ NM_001034954.1(SORBS1):c.3140G>C (p.Arg1047Pro) http://identifiers.org/clinvar/161852 ^@ NM_198393.3(TEX14):c.3263C>T (p.Ser1088Leu) http://identifiers.org/clinvar/161702 ^@ NM_016427.2(ELOA2):c.367T>C (p.Ser123Pro) http://identifiers.org/clinvar/161602 ^@ NM_002872.4(RAC2):c.225+1G>A http://identifiers.org/clinvar/162028 ^@ NM_000257.3(MYH7):c.1802dupT (p.Asn602Glnfs) http://identifiers.org/clinvar/162086 ^@ NM_000834.3(GRIN2B):c.1844A>T (p.Asn615Ile) http://identifiers.org/clinvar/162151 ^@ NM_001128227.2(GNE):c.804G>A (p.Leu268=) http://identifiers.org/clinvar/162214 ^@ NM_032228.5(FAR1):c.1094A>G (p.Asp365Gly) http://identifiers.org/clinvar/162415 ^@ NM_170707.3(LMNA):c.1968+2T>C http://identifiers.org/clinvar/162496 ^@ NM_001542.3(IGSF3):c.2995delC (p.Arg999Alafs) http://identifiers.org/clinvar/162570 ^@ NM_001079802.1(FKTN):c.482A>G (p.His161Arg) http://identifiers.org/clinvar/162822 ^@ NM_001232.3(CASQ2):c.177G>A (p.Pro59=) http://identifiers.org/clinvar/178652 ^@ NM_206933.2(USH2A):c.5932C>T (p.Pro1978Ser) http://identifiers.org/clinvar/178352 ^@ NM_024009.2(GJB3):c.529T>G (p.Tyr177Asp) http://identifiers.org/clinvar/166515 ^@ NM_206933.2(USH2A):c.2633G>A (p.Arg878His) http://identifiers.org/clinvar/178971 ^@ NM_206933.2(USH2A):c.1992dupT (p.Lys665Terfs) http://identifiers.org/clinvar/179071 ^@ NM_001042702.3(DFNB59):c.683C>T (p.Ser228Leu) http://identifiers.org/clinvar/178202 ^@ NM_001256850.1(TTN):c.58516G>A (p.Ala19506Thr) http://identifiers.org/clinvar/178152 ^@ NM_133378.4(TTN):c.99172T>G (p.Leu33058Val) http://identifiers.org/clinvar/179471 ^@ NM_133378.4(TTN):c.55626G>A (p.Ala18542=) http://identifiers.org/clinvar/166152 ^@ NM_133378.4(TTN):c.21220G>A (p.Val7074Ile) http://identifiers.org/clinvar/179371 ^@ NM_133378.4(TTN):c.19085-15T>G http://identifiers.org/clinvar/178252 ^@ NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) http://identifiers.org/clinvar/166264 ^@ NM_133379.4(TTN):c.13444A>G (p.Ile4482Val) http://identifiers.org/clinvar/166314 ^@ NM_133378.4(TTN):c.5992C>T (p.Arg1998Cys) http://identifiers.org/clinvar/163132 ^@ NM_001369.2(DNAH5):c.13348A>G (p.Ile4450Val) http://identifiers.org/clinvar/166602 ^@ NM_006005.3(WFS1):c.2080G>C (p.Glu694Gln) http://identifiers.org/clinvar/163287 ^@ NM_004415.3(DSP):c.7916G>A (p.Arg2639Gln) http://identifiers.org/clinvar/201912 ^@ NM_144573.3(NEXN):c.-34C>A http://identifiers.org/clinvar/202084 ^@ NM_000337.5(SGCD):c.402T>C (p.Ala134=) http://identifiers.org/clinvar/201857 ^@ NM_007078.2(LDB3):c.91C>T (p.Arg31Trp) http://identifiers.org/clinvar/201693 ^@ NM_003476.4(CSRP3):c.116C>A (p.Ala39Asp) http://identifiers.org/clinvar/201965 ^@ NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) http://identifiers.org/clinvar/202026 ^@ NM_004572.3(PKP2):c.275T>A (p.Leu92Ter) http://identifiers.org/clinvar/202140 ^@ NM_003276.2(TMPO):c.398C>T (p.Pro133Leu) http://identifiers.org/clinvar/201803 ^@ NM_020433.4(JPH2):c.1424G>A (p.Arg475His) http://identifiers.org/clinvar/201748 ^@ NM_004006.2(DMD):c.3937A>G (p.Met1313Val) http://identifiers.org/clinvar/202989 ^@ NM_001256850.1(TTN):c.87667G>A (p.Asp29223Asn) http://identifiers.org/clinvar/202424 ^@ NM_001256850.1(TTN):c.87394C>T (p.Arg29132Ter) http://identifiers.org/clinvar/202939 ^@ NM_001256850.1(TTN):c.82357G>A (p.Glu27453Lys) http://identifiers.org/clinvar/202479 ^@ NM_001256850.1(TTN):c.78141_78150delTGCAAGTGCT (p.Ala26048Leufs) http://identifiers.org/clinvar/202889 ^@ NM_001256850.1(TTN):c.73523C>G (p.Thr24508Ser) http://identifiers.org/clinvar/202839 ^@ NM_001256850.1(TTN):c.67372G>T (p.Ala22458Ser) http://identifiers.org/clinvar/233507 ^@ NM_000038.5(APC):c.5399A>G (p.Asn1800Ser) http://identifiers.org/clinvar/230157 ^@ NM_005732.3(RAD50):c.2816T>C (p.Ile939Thr) http://identifiers.org/clinvar/229807 ^@ NM_000535.6(PMS2):c.-2C>T http://identifiers.org/clinvar/230207 ^@ NM_004329.2(BMPR1A):c.524G>C (p.Cys175Ser) http://identifiers.org/clinvar/233607 ^@ NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) http://identifiers.org/clinvar/229707 ^@ NM_000051.3(ATM):c.3190A>G (p.Met1064Val) http://identifiers.org/clinvar/229957 ^@ NM_000051.3(ATM):c.6332A>G (p.His2111Arg) http://identifiers.org/clinvar/230507 ^@ NM_000051.3(ATM):c.6657delT (p.Gln2220Argfs) http://identifiers.org/clinvar/230357 ^@ NM_005591.3(MRE11):c.1138C>T (p.Arg380Cys) http://identifiers.org/clinvar/230007 ^@ NM_000059.3(BRCA2):c.4092_4093insAA (p.Cys1365Asnfs) http://identifiers.org/clinvar/233457 ^@ NM_000059.3(BRCA2):c.6446_6447delTT (p.Ile2149Lysfs) http://identifiers.org/clinvar/233407 ^@ NM_000059.3(BRCA2):c.7744G>A (p.Ala2582Thr) http://identifiers.org/clinvar/230057 ^@ NM_000059.3(BRCA2):c.8060T>C (p.Val2687Ala) http://identifiers.org/clinvar/230407 ^@ NM_000059.3(BRCA2):c.8172G>A (p.Gly2724=) http://identifiers.org/clinvar/230257 ^@ NM_000059.3(BRCA2):c.8215G>T (p.Val2739Phe) http://identifiers.org/clinvar/230557 ^@ NM_000059.3(BRCA2):c.9228A>T (p.Gly3076=) http://identifiers.org/clinvar/233307 ^@ NM_000548.4(TSC2):c.4467A>C (p.Ala1489=) http://identifiers.org/clinvar/229757 ^@ NM_024675.3(PALB2):c.541G>T (p.Glu181Ter) http://identifiers.org/clinvar/229907 ^@ NM_004360.4(CDH1):c.1488_1494delCGAGGAC (p.Glu497Leufs) http://identifiers.org/clinvar/230307 ^@ NM_001042492.2(NF1):c.6461C>T (p.Thr2154Ile) http://identifiers.org/clinvar/229657 ^@ NM_002878.3(RAD51D):c.834G>A (p.Leu278=) http://identifiers.org/clinvar/230607 ^@ NM_007294.3(BRCA1):c.3306T>C (p.Asn1102=) http://identifiers.org/clinvar/235024 ^@ NM_000256.3(MYBPC3):c.884T>C (p.Phe295Ser) http://identifiers.org/clinvar/235209 ^@ NM_012434.4(SLC17A5):c.1324G>A (p.Val442Ile) http://identifiers.org/clinvar/235263 ^@ NM_000384.2(APOB):c.606A>T (p.Glu202Asp) http://identifiers.org/clinvar/235317 ^@ NM_015338.5(ASXL1):c.3800C>A (p.Thr1267Asn) http://identifiers.org/clinvar/235369 ^@ NM_001257360.1(AMPD2):c.1243-8C>A http://identifiers.org/clinvar/235423 ^@ NM_015272.4(RPGRIP1L):c.1165A>G (p.Ile389Val) http://identifiers.org/clinvar/235478 ^@ NM_012414.3(RAB3GAP2):c.812-7_812-6delTT http://identifiers.org/clinvar/235531 ^@ NC_012920.1:m.3582C>T http://identifiers.org/clinvar/235582 ^@ NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) http://identifiers.org/clinvar/235632 ^@ NM_006019.3(TCIRG1):c.1245C= (p.Leu415=) http://identifiers.org/clinvar/235686 ^@ NM_001310338.1(MGME1):c.86C>G (p.Ser29Cys) http://identifiers.org/clinvar/235748 ^@ NM_001916.4(CYC1):c.613C>T (p.His205Tyr) http://identifiers.org/clinvar/242399 ^@ NM_001567.3(INPPL1):c.753G>C (p.Gln251His) http://identifiers.org/clinvar/235894 ^@ NM_017635.4(KMT5B):c.2497G>T (p.Glu833Ter) http://identifiers.org/clinvar/236106 ^@ NM_000350.2(ABCA4):c.3871C>T (p.Gln1291Ter) http://identifiers.org/clinvar/236156 ^@ NM_004621.5(TRPC6):c.2485-14T>C http://identifiers.org/clinvar/236219 ^@ NM_012102.3(RERE):c.2249_2270dup22 (p.Thr758Serfs) http://identifiers.org/clinvar/236294 ^@ NM_198578.3(LRRK2):c.4441G>A (p.Ala1481Thr) http://identifiers.org/clinvar/236395 ^@ NC_000015.9:g.22750305_23228712del478408 http://identifiers.org/clinvar/236446 ^@ NM_001142800.1(EYS):c.2826_2827delAT (p.Val944Glyfs) http://identifiers.org/clinvar/236546 ^@ NM_015404.3(WHRN):c.1808G>T (p.Gly603Val) http://identifiers.org/clinvar/236496 ^@ NM_000554.5(CRX):c.100+1G>C http://identifiers.org/clinvar/241036 ^@ NM_015284.3(SZT2):c.6717C>T (p.Cys2239=) http://identifiers.org/clinvar/238342 ^@ NM_001128425.1(MUTYH):c.158-4A>G http://identifiers.org/clinvar/238692 ^@ NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) http://identifiers.org/clinvar/237742 ^@ NM_000384.2(APOB):c.2657A>G (p.Asn886Ser) http://identifiers.org/clinvar/237842 ^@ NM_000465.3(BARD1):c.692C>T (p.Ser231Phe) http://identifiers.org/clinvar/237391 ^@ NM_000251.2(MSH2):c.2697G>T (p.Met899Ile) http://identifiers.org/clinvar/240986 ^@ NM_015120.4(ALMS1):c.2097G>A (p.Val699=) http://identifiers.org/clinvar/238592 ^@ NM_001148.4(ANK2):c.8261C>T (p.Ala2754Val) http://identifiers.org/clinvar/240336 ^@ NM_006206.4(PDGFRA):c.2880+5G>A http://identifiers.org/clinvar/236646 ^@ NM_000038.5(APC):c.747G>A (p.Lys249=) http://identifiers.org/clinvar/236596 ^@ NM_000038.5(APC):c.4164T>G (p.Thr1388=) http://identifiers.org/clinvar/242225 ^@ NM_198253.2(TERT):c.2255A>G (p.His752Arg) http://identifiers.org/clinvar/240236 ^@ NM_005732.3(RAD50):c.3288A>G (p.Gln1096=) http://identifiers.org/clinvar/241436 ^@ NM_022455.4(NSD1):c.5994delG (p.Met1998Ilefs) http://identifiers.org/clinvar/240286 ^@ NM_006073.3(TRDN):c.2131C>T (p.Arg711Cys) http://identifiers.org/clinvar/238642 ^@ NM_001206927.1(DNAH8):c.3035-4A>G http://identifiers.org/clinvar/240936 ^@ NM_014855.2(AP5Z1):c.1554C>T (p.Phe518=) http://identifiers.org/clinvar/237892 ^@ NM_000535.6(PMS2):c.1703C>T (p.Pro568Leu) http://identifiers.org/clinvar/262774 ^@ NM_153717.2(EVC):c.2305-8T>C http://identifiers.org/clinvar/257995 ^@ NM_001369.2(DNAH5):c.12346A>G (p.Ile4116Val) http://identifiers.org/clinvar/258045 ^@ NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) http://identifiers.org/clinvar/261585 ^@ NM_022455.4(NSD1):c.3796+22A>T http://identifiers.org/clinvar/263024 ^@ NM_182925.4(FLT4):c.1344C>T (p.Tyr448=) http://identifiers.org/clinvar/256356 ^@ NM_000521.3(HEXB):c.300-32C>T http://identifiers.org/clinvar/256056 ^@ NM_000426.3(LAMA2):c.2323-18T>A http://identifiers.org/clinvar/260835 ^@ NM_017651.4(AHI1):c.*28G>C http://identifiers.org/clinvar/261135 ^@ NM_019105.6(TNXB):c.3419G>A (p.Gly1140Asp) http://identifiers.org/clinvar/261435 ^@ NM_021922.2(FANCE):c.387A>C (p.Pro129=) http://identifiers.org/clinvar/260435 ^@ NM_014780.4(CUL7):c.2438_2439delAAinsGG (p.Gln813Arg) http://identifiers.org/clinvar/262424 ^@ NM_138694.3(PKHD1):c.8950+44A>G http://identifiers.org/clinvar/258345 ^@ NM_001851.4(COL9A1):c.1569T>A (p.Gly523=) http://identifiers.org/clinvar/256256 ^@ NM_000492.3(CFTR):c.743+40A>G http://identifiers.org/clinvar/258145 ^@ NM_001458.4(FLNC):c.5200-18C>T http://identifiers.org/clinvar/257845 ^@ NM_001277115.1(DNAH11):c.1053G>A (p.Glu351=) http://identifiers.org/clinvar/257895 ^@ NM_001277115.1(DNAH11):c.4377+20G>A http://identifiers.org/clinvar/257945 ^@ NM_001277115.1(DNAH11):c.9925-7T>C http://identifiers.org/clinvar/263124 ^@ NM_198428.2(BBS9):c.2299-20A>C http://identifiers.org/clinvar/260935 ^@ NM_017802.3(DNAAF5):c.595+18C>T http://identifiers.org/clinvar/256306 ^@ NM_000501.3(ELN):c.326-20C>T http://identifiers.org/clinvar/256156 ^@ NM_000443.3(ABCB4):c.-1G>A http://identifiers.org/clinvar/256706 ^@ NM_000553.4(WRN):c.1577-17T>G http://identifiers.org/clinvar/261085 ^@ NM_019098.4(CNGB3):c.2103+23C>G http://identifiers.org/clinvar/255056 ^@ NM_000093.4(COL5A1):c.1720-48T>C http://identifiers.org/clinvar/261335 ^@ NM_020549.4(CHAT):c.388-50C>T http://identifiers.org/clinvar/256106 ^@ NM_000429.2(MAT1A):c.870A>G (p.Val290=) http://identifiers.org/clinvar/255506 ^@ NM_000195.4(HPS1):c.987+13T>C http://identifiers.org/clinvar/260485 ^@ NM_014956.4(CEP164):c.3356A>G (p.Gln1119Arg) http://identifiers.org/clinvar/260785 ^@ NM_016952.4(CDON):c.2057C>T (p.Ala686Val) http://identifiers.org/clinvar/257595 ^@ NM_001173991.2(TMEM216):c.-24C>G http://identifiers.org/clinvar/259835 ^@ NM_005609.3(PYGM):c.243+48A>G http://identifiers.org/clinvar/261685 ^@ NM_024079.4(ALG8):c.95+23G>T http://identifiers.org/clinvar/261235 ^@ NM_020376.3(PNPLA2):c.1430C>T (p.Pro477Leu) http://identifiers.org/clinvar/255956 ^@ NM_000372.4(TYR):c.114G>A (p.Pro38=) http://identifiers.org/clinvar/260685 ^@ NM_016156.5(MTMR2):c.1131C>T (p.Thr377=) http://identifiers.org/clinvar/261185 ^@ NM_019844.3(SLCO1B3):c.360-3C>T http://identifiers.org/clinvar/258195 ^@ NM_001843.3(CNTN1):c.2598C>G (p.Ala866=) http://identifiers.org/clinvar/258245 ^@ NM_001844.4(COL2A1):c.871-4C>G http://identifiers.org/clinvar/255756 ^@ NM_000289.5(PFKM):c.2087G>A (p.Arg696His) http://identifiers.org/clinvar/262574 ^@ NM_145064.2(STAC3):c.432+15G>A http://identifiers.org/clinvar/256656 ^@ NM_000552.4(VWF):c.1626G>A (p.Ala542=) http://identifiers.org/clinvar/261385 ^@ NM_020937.3(FANCM):c.3758A>G (p.Asn1253Ser) http://identifiers.org/clinvar/258845 ^@ NM_002863.4(PYGL):c.529-22G>A http://identifiers.org/clinvar/261485 ^@ NM_022067.3(VIPAS39):c.1179+13C>G http://identifiers.org/clinvar/262374 ^@ NM_138477.2(CDAN1):c.3153G>A (p.Glu1051=) http://identifiers.org/clinvar/255156 ^@ NM_000119.2(EPB42):c.89G>A (p.Ser30Asn) http://identifiers.org/clinvar/255656 ^@ NM_000259.3(MYO5A):c.5334+16C>T http://identifiers.org/clinvar/333330 ^@ NM_001006657.1(WDR35):c.*2725G>T http://identifiers.org/clinvar/333430 ^@ NM_032977.3(CASP10):c.729A>G (p.Arg243=) http://identifiers.org/clinvar/333480 ^@ NM_032977.3(CASP10):c.*2689A>G http://identifiers.org/clinvar/333980 ^@ NM_015040.3(PIKFYVE):c.*3099_*3100insGTT http://identifiers.org/clinvar/333780 ^@ NM_005006.6(NDUFS1):c.2006A>G (p.Asn669Ser) http://identifiers.org/clinvar/334131 ^@ NM_000384.2(APOB):c.6342C>T (p.Ala2114=) http://identifiers.org/clinvar/334282 ^@ NM_014140.3(SMARCAL1):c.-170C>T http://identifiers.org/clinvar/334081 ^@ NM_000384.2(APOB):c.12178G>C (p.Glu4060Gln) http://identifiers.org/clinvar/337538 ^@ NM_014014.4(SNRNP200):c.4786G>A (p.Asp1596Asn) http://identifiers.org/clinvar/334482 ^@ NM_015311.2(OBSL1):c.4117G>A (p.Glu1373Lys) http://identifiers.org/clinvar/334232 ^@ NM_173076.2(ABCA12):c.5619A>T (p.Val1873=) http://identifiers.org/clinvar/337638 ^@ NM_001079.3(ZAP70):c.1737-3C>T http://identifiers.org/clinvar/334532 ^@ NM_015311.2(OBSL1):c.729G>A (p.Pro243=) http://identifiers.org/clinvar/342368 ^@ NM_033084.4(FANCD2):c.2480A>C (p.Glu827Ala) http://identifiers.org/clinvar/342318 ^@ NM_016247.3(IMPG2):c.*471A>T http://identifiers.org/clinvar/342418 ^@ NM_000551.3(VHL):c.*724T>G http://identifiers.org/clinvar/342568 ^@ NM_198196.2(CD96):c.*1155C>A http://identifiers.org/clinvar/342718 ^@ NM_020754.3(ARHGAP31):c.*2471G>T http://identifiers.org/clinvar/342768 ^@ NM_001023570.3(IQCB1):c.*197G>C http://identifiers.org/clinvar/342868 ^@ NM_053025.3(MYLK):c.5329C>T (p.Pro1777Ser) http://identifiers.org/clinvar/342918 ^@ NM_053025.3(MYLK):c.-277T>C http://identifiers.org/clinvar/343168 ^@ NM_004637.5(RAB7A):c.*206G>A http://identifiers.org/clinvar/343268 ^@ NM_052985.3(IFT122):c.3686G>A (p.Arg1229His) http://identifiers.org/clinvar/342518 ^@ NM_198196.2(CD96):c.160G>A (p.Val54Met) http://identifiers.org/clinvar/342618 ^@ NM_020754.3(ARHGAP31):c.-209C>T http://identifiers.org/clinvar/342668 ^@ NM_020754.3(ARHGAP31):c.3458A>G (p.Asp1153Gly) http://identifiers.org/clinvar/343518 ^@ NM_024334.2(TMEM43):c.*463A>G http://identifiers.org/clinvar/343118 ^@ NM_032638.4(GATA2):c.*697C>T http://identifiers.org/clinvar/350547 ^@ NM_001182.4(ALDH7A1):c.*1741T>A http://identifiers.org/clinvar/357363 ^@ NM_138694.3(PKHD1):c.*3025C>T http://identifiers.org/clinvar/354473 ^@ NM_004385.4(VCAN):c.*232_*235delTCTA http://identifiers.org/clinvar/357513 ^@ NM_018100.3(EFHC1):c.*1325dupA http://identifiers.org/clinvar/350847 ^@ NM_014402.4(UQCRQ):c.*364C>T http://identifiers.org/clinvar/357613 ^@ NM_001723.5(DST):c.909A>C (p.Ser303=) http://identifiers.org/clinvar/350697 ^@ NM_032446.2(MEGF10):c.*1866C>T http://identifiers.org/clinvar/357713 ^@ NM_001142800.1(EYS):c.4052T>G (p.Leu1351Arg) http://identifiers.org/clinvar/350797 ^@ NM_001999.3(FBN2):c.-269A>G http://identifiers.org/clinvar/357813 ^@ NM_001851.4(COL9A1):c.490C>T (p.Leu164Phe) http://identifiers.org/clinvar/350947 ^@ NM_017415.2(KLHL3):c.*2485T>G http://identifiers.org/clinvar/354923 ^@ NM_007214.4(SEC63):c.-237C>T http://identifiers.org/clinvar/354973 ^@ NM_014028.3(OSTM1):c.*778T>G http://identifiers.org/clinvar/358063 ^@ NM_004999.3(MYO6):c.*4481T>C http://identifiers.org/clinvar/358113 ^@ NM_181714.3(LCA5):c.-419A>C http://identifiers.org/clinvar/351197 ^@ NM_001369.2(DNAH5):c.2578-5delG http://identifiers.org/clinvar/351097 ^@ NM_022464.4(SIL1):c.239A>G (p.Gln80Arg) http://identifiers.org/clinvar/351247 ^@ NM_002109.5(HARS):c.-64C>T http://identifiers.org/clinvar/351147 ^@ NM_199189.2(MATR3):c.*97C>G http://identifiers.org/clinvar/355824 ^@ NM_033071.3(SYNE1):c.22284G>C (p.Leu7428Phe) http://identifiers.org/clinvar/355924 ^@ NM_033071.3(SYNE1):c.4399G>A (p.Val1467Ile) http://identifiers.org/clinvar/356074 ^@ NM_198586.2(NHLRC1):c.*248C>G http://identifiers.org/clinvar/352534 ^@ NM_001099287.1(NIPAL4):c.*742C>T http://identifiers.org/clinvar/352384 ^@ NM_000337.5(SGCD):c.*4092A>G http://identifiers.org/clinvar/352634 ^@ NM_000816.3(GABRG2):c.-114T>C http://identifiers.org/clinvar/352484 ^@ NM_005546.3(ITK):c.*706G>C http://identifiers.org/clinvar/352584 ^@ NM_000806.5(GABRA1):c.-438delA http://identifiers.org/clinvar/352734 ^@ NM_001017995.2(SH3PXD2B):c.*4420A>G http://identifiers.org/clinvar/352834 ^@ NM_002449.4(MSX2):c.-50C>T http://identifiers.org/clinvar/357213 ^@ NM_012120.2(CD2AP):c.*707G>A http://identifiers.org/clinvar/357313 ^@ NM_003221.3(TFAP2B):c.*1427delC http://identifiers.org/clinvar/353234 ^@ NM_014324.5(AMACR):c.*1353G>A http://identifiers.org/clinvar/353084 ^@ NM_014244.4(ADAMTS2):c.3506G>T (p.Gly1169Val) http://identifiers.org/clinvar/361362 ^@ NM_178857.5(RP1L1):c.2028C>G (p.Ser676Arg) http://identifiers.org/clinvar/361412 ^@ NM_178857.5(RP1L1):c.416dupC (p.Gly140Argfs) http://identifiers.org/clinvar/353334 ^@ NM_004172.4(SLC1A3):c.*451A>G http://identifiers.org/clinvar/361514 ^@ NM_014112.4(TRPS1):c.*5155C>T http://identifiers.org/clinvar/353534 ^@ NM_002310.5(LIFR):c.*5542G>A http://identifiers.org/clinvar/361822 ^@ NM_004519.3(KCNQ3):c.*3672C>T http://identifiers.org/clinvar/306207 ^@ NM_000260.3(MYO7A):c.*230A>G http://identifiers.org/clinvar/363861 ^@ NM_019098.4(CNGB3):c.*293T>C http://identifiers.org/clinvar/363811 ^@ NM_000318.2(PEX2):c.*233C>G http://identifiers.org/clinvar/363911 ^@ NM_002485.4(NBN):c.*123T>A http://identifiers.org/clinvar/364011 ^@ NM_001001557.3(GDF6):c.*1671C>T http://identifiers.org/clinvar/307297 ^@ NM_000192.3(TBX5):c.*277C>T http://identifiers.org/clinvar/307447 ^@ NM_000017.3(ACADS):c.*200C>T http://identifiers.org/clinvar/307647 ^@ NM_004064.4(CDKN1B):c.-471T>G http://identifiers.org/clinvar/307847 ^@ NM_172364.4(CACNA2D4):c.2523C>T (p.Thr841=) http://identifiers.org/clinvar/307897 ^@ NM_019844.3(SLCO1B3):c.853_856delAAAC (p.Lys285Hisfs) http://identifiers.org/clinvar/308147 ^@ NM_000719.6(CACNA1C):c.3717+11G>A http://identifiers.org/clinvar/308297 ^@ NM_139241.3(FGD4):c.1339-12C>T http://identifiers.org/clinvar/365100 ^@ NM_000118.3(ENG):c.-115G>C http://identifiers.org/clinvar/308797 ^@ NM_020638.2(FGF23):c.*182G>A http://identifiers.org/clinvar/301503 ^@ NM_001613.2(ACTA2):c.*122T>C http://identifiers.org/clinvar/365750 ^@ NM_000093.4(COL5A1):c.*311C>T http://identifiers.org/clinvar/301703 ^@ NM_016341.3(PLCE1):c.2323C>T (p.Arg775Trp) http://identifiers.org/clinvar/365600 ^@ NM_014694.3(ADAMTSL2):c.2042G>A (p.Arg681Gln) http://identifiers.org/clinvar/365650 ^@ NM_000787.3(DBH):c.868G>A (p.Asp290Asn) http://identifiers.org/clinvar/301953 ^@ NM_004771.3(MMP20):c.375-11C>T http://identifiers.org/clinvar/302103 ^@ NM_030962.3(SBF2):c.-101A>C http://identifiers.org/clinvar/366151 ^@ NM_144966.5(FREM1):c.2113A>G (p.Ser705Gly) http://identifiers.org/clinvar/365850 ^@ NM_052813.4(CARD9):c.511G>A (p.Gly171Ser) http://identifiers.org/clinvar/309686 ^@ NM_002272.3(KRT4):c.678-10C>T http://identifiers.org/clinvar/366251 ^@ NM_003070.4(SMARCA2):c.4516A>T (p.Ile1506Phe) http://identifiers.org/clinvar/366301 ^@ NM_002451.3(MTAP):c.*2837T>A http://identifiers.org/clinvar/302203 ^@ NM_000019.3(ACAT1):c.941-14_941-13insCT http://identifiers.org/clinvar/366351 ^@ NM_003383.4(VLDLR):c.-111C>T http://identifiers.org/clinvar/365901 ^@ NM_006412.3(AGPAT2):c.*517C>T http://identifiers.org/clinvar/309786 ^@ NM_002206.2(ITGA7):c.1918G>A (p.Asp640Asn) http://identifiers.org/clinvar/365951 ^@ NM_016219.4(MAN1B1):c.684G>A (p.Val228=) http://identifiers.org/clinvar/309936 ^@ NM_004984.2(KIF5A):c.968+12G>C http://identifiers.org/clinvar/310086 ^@ NM_000552.4(VWF):c.1077C>T (p.Pro359=) http://identifiers.org/clinvar/302403 ^@ NM_024740.2(ALG9):c.*1680G>T http://identifiers.org/clinvar/366501 ^@ NM_001256054.2(C9orf72):c.*250T>C http://identifiers.org/clinvar/302503 ^@ NM_000039.2(APOA1):c.498C>A (p.Ser166Arg) http://identifiers.org/clinvar/310186 ^@ NM_002076.3(GNS):c.*985A>G http://identifiers.org/clinvar/310336 ^@ NM_000239.2(LYZ):c.*191A>G http://identifiers.org/clinvar/302603 ^@ NM_174934.3(SCN4B):c.*2137C>G http://identifiers.org/clinvar/366601 ^@ NM_001497.3(B4GALT1):c.*2613G>A http://identifiers.org/clinvar/302653 ^@ NM_174934.3(SCN4B):c.-204C>G http://identifiers.org/clinvar/302703 ^@ NM_001164277.1(SLC37A4):c.*5A>C http://identifiers.org/clinvar/302753 ^@ NM_001382.3(DPAGT1):c.-46C>T http://identifiers.org/clinvar/366901 ^@ NM_001042413.1(GLIS3):c.*2992C>T http://identifiers.org/clinvar/366551 ^@ NM_005802.4(TOPORS):c.*362delT http://identifiers.org/clinvar/340629 ^@ NM_014339.6(IL17RA):c.*799_*800delAG http://identifiers.org/clinvar/314540 ^@ NM_013382.5(POMT2):c.*622C>G http://identifiers.org/clinvar/312840 ^@ NM_002471.3(MYH6):c.5587C>T (p.Leu1863=) http://identifiers.org/clinvar/313340 ^@ NM_001202.5(BMP4):c.*145_*149delAAAAG http://identifiers.org/clinvar/313440 ^@ NM_007374.2(SIX6):c.*409T>G http://identifiers.org/clinvar/313540 ^@ NM_182914.2(SYNE2):c.8862G>T (p.Ala2954=) http://identifiers.org/clinvar/313590 ^@ NM_182914.2(SYNE2):c.13689C>T (p.Gly4563=) http://identifiers.org/clinvar/315579 ^@ NM_133647.1(SLC12A6):c.*2088C>T http://identifiers.org/clinvar/313790 ^@ NM_002382.4(MAX):c.*1278C>T http://identifiers.org/clinvar/313990 ^@ NM_000021.3(PSEN1):c.*2864A>C http://identifiers.org/clinvar/367869 ^@ NM_002351.4(SH2D1A):c.-124T>A http://identifiers.org/clinvar/367919 ^@ NM_004840.2(ARHGEF6):c.*2126G>A http://identifiers.org/clinvar/315979 ^@ NM_173500.3(TTBK2):c.3251C>T (p.Thr1084Met) http://identifiers.org/clinvar/316229 ^@ NM_012388.3(BLOC1S6):c.*276_*277delTG http://identifiers.org/clinvar/368269 ^@ NM_022567.2(NYX):c.1035G>A (p.Glu345=) http://identifiers.org/clinvar/368369 ^@ NM_153380.3(ZNF41):c.746A>C (p.Glu249Ala) http://identifiers.org/clinvar/316379 ^@ NM_000138.4(FBN1):c.3171C>T (p.Ser1057=) http://identifiers.org/clinvar/368419 ^@ NM_007137.3(ZNF81):c.*2050C>T http://identifiers.org/clinvar/368469 ^@ NM_003179.2(SYP):c.-8C>T http://identifiers.org/clinvar/324473 ^@ NM_000334.4(SCN4A):c.*1737A>G http://identifiers.org/clinvar/324723 ^@ NM_031220.3(PITPNM3):c.*1313G>C http://identifiers.org/clinvar/324923 ^@ NM_000346.3(SOX9):c.*140T>C http://identifiers.org/clinvar/325073 ^@ NM_000747.2(CHRNB1):c.-13G>C http://identifiers.org/clinvar/315879 ^@ NM_016013.3(NDUFAF1):c.-137C>T http://identifiers.org/clinvar/315929 ^@ NM_138477.2(CDAN1):c.2750T>G (p.Ile917Ser) http://identifiers.org/clinvar/317769 ^@ NM_004862.3(LITAF):c.*598G>A http://identifiers.org/clinvar/317819 ^@ NM_005236.2(ERCC4):c.2199C>T (p.Ile733=) http://identifiers.org/clinvar/316029 ^@ NM_000119.2(EPB42):c.70C>T (p.Pro24Ser) http://identifiers.org/clinvar/325813 ^@ NM_000199.3(SGSH):c.*855T>C http://identifiers.org/clinvar/316329 ^@ NM_000138.4(FBN1):c.*1575T>G http://identifiers.org/clinvar/373440 ^@ NM_212556.3(ASB18):c.694G>C (p.Asp232His) http://identifiers.org/clinvar/373390 ^@ NM_012301.3(MAGI2):c.3802T>G (p.Ser1268Ala) http://identifiers.org/clinvar/374182 ^@ NM_000350.2(ABCA4):c.6453G>T (p.Met2151Ile) http://identifiers.org/clinvar/374132 ^@ NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) http://identifiers.org/clinvar/374236 ^@ NM_017635.4(KMT5B):c.930delG (p.Phe311Serfs) http://identifiers.org/clinvar/374306 ^@ NM_014629.3(ARHGEF10):c.2063G>A (p.Ser688Asn) http://identifiers.org/clinvar/374371 ^@ NC_000001.10:g.(146560564_?)_(?_147416122)del http://identifiers.org/clinvar/374424 ^@ NM_024589.2(ROGDI):c.517G>A (p.Ala173Thr) http://identifiers.org/clinvar/374474 ^@ NM_002972.3(SBF1):c.3772G>A (p.Ala1258Thr) http://identifiers.org/clinvar/374524 ^@ NM_003119.3(SPG7):c.1618G>A (p.Val540Met) http://identifiers.org/clinvar/374624 ^@ NM_001458.4(FLNC):c.4296G>A (p.Pro1432=) http://identifiers.org/clinvar/374674 ^@ NM_206933.2(USH2A):c.11105G>A (p.Trp3702Ter) http://identifiers.org/clinvar/374724 ^@ NM_000059.3(BRCA2):c.6263C>T (p.Thr2088Ile) http://identifiers.org/clinvar/374774 ^@ NM_017882.2(CLN6):c.898T>C (p.Trp300Arg) http://identifiers.org/clinvar/374834 ^@ MYL4, GLU11LYS http://identifiers.org/clinvar/374884 ^@ NM_022469.3(GREM2):c.38C>T (p.Ala13Val) http://identifiers.org/clinvar/374951 ^@ NM_001008844.2(DSP):c.2703G>T (p.Trp901Cys) http://identifiers.org/clinvar/375221 ^@ NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del http://identifiers.org/clinvar/375282 ^@ NM_005215.3(DCC):c.2378T>G (p.Val793Gly) http://identifiers.org/clinvar/375336 ^@ NM_024876.3(COQ8B):c.645delT (p.Phe214LeufsTer14) http://identifiers.org/clinvar/375387 ^@ NM_012160.4(FBXL4):c.419T>C (p.Val140Ala) http://identifiers.org/clinvar/375442 ^@ NM_153427.2(PITX2):c.648T>A (p.Cys216Ter) http://identifiers.org/clinvar/375511 ^@ NM_001165963.1(SCN1A):c.1848G>C (p.Glu616Asp) http://identifiers.org/clinvar/375568 ^@ NM_032578.3(MYPN):c.3214C>T (p.Arg1072Ter) http://identifiers.org/clinvar/375628 ^@ NM_001197104.1(KMT2A):c.1642A>G (p.Thr548Ala) http://identifiers.org/clinvar/375679 ^@ NM_016239.3(MYO15A):c.10572dupC (p.Ser3525Glnfs) http://identifiers.org/clinvar/375773 ^@ NM_000527.4(LDLR):c.53C>T (p.Ala18Val) http://identifiers.org/clinvar/375823 ^@ NM_000527.4(LDLR):c.1773_1774delCGinsT (p.Gly593Alafs) http://identifiers.org/clinvar/375876 ^@ NM_002524.4(NRAS):c.38G>T (p.Gly13Val) http://identifiers.org/clinvar/375926 ^@ NM_000222.2(KIT):c.2446_2447delGAinsAT (p.Asp816Ile) http://identifiers.org/clinvar/378285 ^@ NM_001135659.2(NRXN1):c.773-18C>A http://identifiers.org/clinvar/386520 ^@ NM_022912.2(REEP1):c.408T>A (p.Ala136=) http://identifiers.org/clinvar/385920 ^@ NM_001044385.2(TMEM237):c.66T>A (p.Pro22=) http://identifiers.org/clinvar/382828 ^@ NM_000551.3(VHL):c.192C>T (p.Arg64=) http://identifiers.org/clinvar/383730 ^@ NM_003042.3(SLC6A1):c.1648G>C (p.Gly550Arg) http://identifiers.org/clinvar/384030 ^@ NM_198056.2(SCN5A):c.3391-16A>T http://identifiers.org/clinvar/380083 ^@ NM_005051.2(QARS):c.1426G>A (p.Val476Ile) http://identifiers.org/clinvar/380384 ^@ NM_000249.3(MLH1):c.453+11T>C http://identifiers.org/clinvar/380684 ^@ NM_001148.4(ANK2):c.3483C>T (p.Ser1161=) http://identifiers.org/clinvar/381086 ^@ NM_198056.2(SCN5A):c.4566C>T (p.Phe1522=) http://identifiers.org/clinvar/387070 ^@ NM_017875.2(SLC25A38):c.69+12G>A http://identifiers.org/clinvar/377483 ^@ NM_001148.4(ANK2):c.11864A>G (p.Asn3955Ser) http://identifiers.org/clinvar/384581 ^@ NM_199069.1(NDUFAF3):c.210A>C (p.Ile70=) http://identifiers.org/clinvar/382377 ^@ NM_001151.3(SLC25A4):c.598+16C>T http://identifiers.org/clinvar/378085 ^@ NM_006859.3(LIAS):c.807G>A (p.Gln269=) http://identifiers.org/clinvar/377533 ^@ NM_001683.3(ATP2B2):c.2630C>T (p.Ser877Leu) http://identifiers.org/clinvar/390419 ^@ NM_020117.10(LARS):c.1589+18A>G http://identifiers.org/clinvar/383679 ^@ NM_005670.3(EPM2A):c.744G>A (p.Ala248=) http://identifiers.org/clinvar/393008 ^@ NM_033071.3(SYNE1):c.9112A>G (p.Arg3038Gly) http://identifiers.org/clinvar/384480 ^@ NM_033071.3(SYNE1):c.1863C>T (p.Asn621=) http://identifiers.org/clinvar/380835 ^@ NM_152393.3(KLHL40):c.1251C>G (p.Val417=) http://identifiers.org/clinvar/391908 ^@ NM_006073.3(TRDN):c.1739-6C>T http://identifiers.org/clinvar/392558 ^@ NM_033071.3(SYNE1):c.22346G>A (p.Arg7449His) http://identifiers.org/clinvar/391858 ^@ NM_000238.3(KCNH2):c.1715G>C (p.Gly572Ala) http://identifiers.org/clinvar/390469 ^@ NM_021116.2(ADCY1):c.1628C>T (p.Ser543Leu) http://identifiers.org/clinvar/390519 ^@ NM_000083.2(CLCN1):c.900G>A (p.Arg300=) http://identifiers.org/clinvar/391258 ^@ NM_000722.3(CACNA2D1):c.1873+14A>T http://identifiers.org/clinvar/385970 ^@ NM_000445.4(PLEC):c.256-6C>T http://identifiers.org/clinvar/386970 ^@ NM_014141.5(CNTNAP2):c.3475+16G>A http://identifiers.org/clinvar/378390 ^@ NM_000535.6(PMS2):c.2445+14G>T http://identifiers.org/clinvar/383980 ^@ NM_152415.2(VPS37A):c.616A>T (p.Ile206Phe) http://identifiers.org/clinvar/383830 ^@ NM_020822.2(KCNT1):c.1511-12C>A http://identifiers.org/clinvar/379933 ^@ NM_020822.2(KCNT1):c.2688G>C (p.Met896Ile) http://identifiers.org/clinvar/392408 ^@ NM_005144.4(HR):c.2636G>A (p.Arg879Lys) http://identifiers.org/clinvar/382477 ^@ NM_001167734.1(VARS2):c.3181-16T>C http://identifiers.org/clinvar/386570 ^@ NM_032634.3(PIGO):c.1392C>T (p.Ile464=) http://identifiers.org/clinvar/380885 ^@ NM_012229.4(NT5C2):c.1211+20C>A http://identifiers.org/clinvar/383930 ^@ NM_004722.3(AP4M1):c.956G>A (p.Cys319Tyr) http://identifiers.org/clinvar/392258 ^@ NM_014908.3(DOLK):c.919C>T (p.Leu307=) http://identifiers.org/clinvar/133565 ^@ NM_152641.3(ARID2):c.4510C>T (p.Arg1504Trp) http://identifiers.org/clinvar/133615 ^@ NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) http://identifiers.org/clinvar/133665 ^@ NM_004656.3(BAP1):c.1838C>T (p.Thr613Met) http://identifiers.org/clinvar/133715 ^@ NM_000057.3(BLM):c.1712T>C (p.Met571Thr) http://identifiers.org/clinvar/133769 ^@ NM_001211.5(BUB1B):c.1853T>C (p.Val618Ala) http://identifiers.org/clinvar/133819 ^@ NM_001321786.1(CBLB):c.1388G>A (p.Cys463Tyr) http://identifiers.org/clinvar/133869 ^@ NM_015083.2(CDK12):c.1855A>G (p.Ile619Val) http://identifiers.org/clinvar/133919 ^@ NM_015125.4(CIC):c.463A>G (p.Ile155Val) http://identifiers.org/clinvar/133969 ^@ NM_177438.2(DICER1):c.3334A>G (p.Asn1112Asp) http://identifiers.org/clinvar/134019 ^@ NM_005228.4(EGFR):c.1443T>G (p.Phe481Leu) http://identifiers.org/clinvar/134071 ^@ NM_001005862.2(ERBB2):c.1376C>T (p.Pro459Leu) http://identifiers.org/clinvar/134121 ^@ NM_000122.1(ERCC3):c.2182G>A (p.Val728Met) http://identifiers.org/clinvar/134171 ^@ NM_000123.3(ERCC5):c.3106G>A (p.Ala1036Thr) http://identifiers.org/clinvar/134221 ^@ NM_004456.4(EZH2):c.1810G>A (p.Val604Met) http://identifiers.org/clinvar/134271 ^@ NM_000135.2(FANCA):c.3584G>A (p.Arg1195Gln) http://identifiers.org/clinvar/134322 ^@ NM_001018115.2(FANCD2):c.2990G>A (p.Arg997Gln) http://identifiers.org/clinvar/134373 ^@ NM_000043.5(FAS):c.432C>A (p.Asp144Glu) http://identifiers.org/clinvar/134423 ^@ NM_144997.5(FLCN):c.134C>G (p.Ala45Gly) http://identifiers.org/clinvar/134473 ^@ NM_001077488.3(GNAS):c.217G>A (p.Gly73Ser) http://identifiers.org/clinvar/134523 ^@ NM_002185.3(IL7R):c.152C>T (p.Ser51Leu) http://identifiers.org/clinvar/134573 ^@ NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) http://identifiers.org/clinvar/134623 ^@ NM_000222.2(KIT):c.2358_2359delGAinsTT (p.Lys786_Asn787delinsAsnTyr) http://identifiers.org/clinvar/134675 ^@ NM_003482.3(KMT2D):c.4030A>G (p.Ile1344Val) http://identifiers.org/clinvar/134726 ^@ NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) http://identifiers.org/clinvar/134776 ^@ NM_170606.2(KMT2C):c.7957C>G (p.Leu2653Val) http://identifiers.org/clinvar/134827 ^@ NM_005373.2(MPL):c.690A>G (p.Glu230=) http://identifiers.org/clinvar/134880 ^@ NM_001042492.2(NF1):c.1933A>G (p.Met645Val) http://identifiers.org/clinvar/135314 ^@ NM_001127208.2(TET2):c.3116C>T (p.Ser1039Leu) http://identifiers.org/clinvar/135364 ^@ NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) http://identifiers.org/clinvar/135415 ^@ NM_000553.4(WRN):c.1413A>C (p.Leu471Phe) http://identifiers.org/clinvar/135465 ^@ NM_004628.4(XPC):c.46C>G (p.Leu16Val) http://identifiers.org/clinvar/135515 ^@ NM_001077706.2(ECT2L):c.1579-1G>C http://identifiers.org/clinvar/135566 ^@ NG_007110.2:g.114271G>A http://identifiers.org/clinvar/135640 ^@ NM_003647.2(DGKE):c.889-1G>A http://identifiers.org/clinvar/135700 ^@ NM_000038.5(APC):c.4212C>A (p.Ser1404=) http://identifiers.org/clinvar/135751 ^@ NM_000051.3(ATM):c.3342G>A (p.Lys1114=) http://identifiers.org/clinvar/135809 ^@ NM_000059.3(BRCA2):c.6231G>C (p.Lys2077Asn) http://identifiers.org/clinvar/135860 ^@ NM_000251.2(MSH2):c.2717T>C (p.Ile906Thr) http://identifiers.org/clinvar/135910 ^@ NM_000314.6(PTEN):c.526_528delTAT (p.Tyr178del) http://identifiers.org/clinvar/187156 ^@ NM_007294.3(BRCA1):c.5147A>C (p.Tyr1716Ser) http://identifiers.org/clinvar/183804 ^@ NM_032043.2(BRIP1):c.1695A>C (p.Ser565=) http://identifiers.org/clinvar/187706 ^@ NM_000546.5(TP53):c.8A>G (p.Glu3Gly) http://identifiers.org/clinvar/187757 ^@ NM_007194.3(CHEK2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/187817 ^@ NC_000002.12:g.(?_144388714)_(144520303_?)del http://identifiers.org/clinvar/187889 ^@ NM_005957.4(MTHFR):c.1088G>A (p.Arg363His) http://identifiers.org/clinvar/187939 ^@ NM_004409.4(DMPK):c.*224_*226[225] http://identifiers.org/clinvar/187989 ^@ NM_004409.4(DMPK):c.*224_*226[462] http://identifiers.org/clinvar/188039 ^@ NM_004409.4(DMPK):c.*224_*226[887] http://identifiers.org/clinvar/189050 ^@ NM_000053.3(ATP7B):c.3517G>A (p.Glu1173Lys) http://identifiers.org/clinvar/189740 ^@ NM_004992.3(MECP2):c.994_1346del353 (p.Ser332Valfs) http://identifiers.org/clinvar/189640 ^@ NM_004992.3(MECP2):c.1046_1206del161 (p.Ser349Thrfs) http://identifiers.org/clinvar/189590 ^@ NM_003159.2(CDKL5):c.458A>G (p.Asp153Gly) http://identifiers.org/clinvar/189690 ^@ NM_004992.3:c.(?_27)_(1397_?)del http://identifiers.org/clinvar/189795 ^@ NM_003816.2(ADAM9):c.1396-2A>G http://identifiers.org/clinvar/189974 ^@ NM_001165963.1(SCN1A):c.2869_2878delTGGGACTGTA (p.Asp958Argfs) http://identifiers.org/clinvar/189874 ^@ NM_001165963.1(SCN1A):c.2728C>A (p.Gln910Lys) http://identifiers.org/clinvar/189924 ^@ NM_001165963.1(SCN1A):c.2690T>C (p.Leu897Ser) http://identifiers.org/clinvar/190024 ^@ NM_001165963.1(SCN1A):c.433A>G (p.Met145Val) http://identifiers.org/clinvar/190209 ^@ NM_004628.4(XPC):c.622-2A>C http://identifiers.org/clinvar/190159 ^@ NM_000124.3(ERCC6):c.2096dupC (p.Leu700Valfs) http://identifiers.org/clinvar/190265 ^@ NM_007199.2(IRAK3):c.1461delC (p.Asn487Lysfs) http://identifiers.org/clinvar/190343 ^@ NM_002055.4(GFAP):c.692T>A (p.Leu231His) http://identifiers.org/clinvar/242606 ^@ NM_001288953.1(TTC7A):c.1715A>G (p.Lys572Arg) http://identifiers.org/clinvar/190404 ^@ NM_000257.3(MYH7):c.4315G>C (p.Ala1439Pro) http://identifiers.org/clinvar/229255 ^@ NM_000441.1(SLC26A4):c.1909C>A (p.Gln637Lys) http://identifiers.org/clinvar/226583 ^@ NM_001277115.1(DNAH11):c.1426-9T>C http://identifiers.org/clinvar/227285 ^@ NM_004403.2(DFNA5):c.570G>A (p.Thr190=) http://identifiers.org/clinvar/227335 ^@ NM_014908.3(DOLK):c.294G>A (p.Arg98=) http://identifiers.org/clinvar/227665 ^@ NM_017433.4(MYO3A):c.3027C>T (p.Ser1009=) http://identifiers.org/clinvar/227715 ^@ NM_032578.3(MYPN):c.1536C>T (p.Cys512=) http://identifiers.org/clinvar/227234 ^@ NM_022124.5(CDH23):c.67+8C>T http://identifiers.org/clinvar/229305 ^@ NM_005422.2(TECTA):c.5296G>A (p.Val1766Met) http://identifiers.org/clinvar/226733 ^@ NM_002458.2(MUC5B):c.1541-5G>A http://identifiers.org/clinvar/229605 ^@ NM_153676.3(USH1C):c.245C>G (p.Ser82Cys) http://identifiers.org/clinvar/227765 ^@ NM_001277269.1(OTOG):c.1433T>G (p.Phe478Cys) http://identifiers.org/clinvar/226883 ^@ NM_001277269.1(OTOG):c.3335C>T (p.Ala1112Val) http://identifiers.org/clinvar/227565 ^@ NM_000256.3(MYBPC3):c.2136G>A (p.Val712=) http://identifiers.org/clinvar/227535 ^@ NM_001145308.4(LRTOMT):c.397G>C (p.Ala133Pro) http://identifiers.org/clinvar/226983 ^@ NM_012226.4(P2RX2):c.118C>T (p.Arg40Cys) http://identifiers.org/clinvar/226933 ^@ NM_173591.3(OTOGL):c.2523C>T (p.Phe841=) http://identifiers.org/clinvar/227385 ^@ NM_004004.5(GJB2):c.78C>T (p.Thr26=) http://identifiers.org/clinvar/226683 ^@ NM_001130089.1(KARS):c.254A>G (p.Asn85Ser) http://identifiers.org/clinvar/226783 ^@ NM_016239.3(MYO15A):c.3140C>G (p.Pro1047Arg) http://identifiers.org/clinvar/226833 ^@ NM_003803.3(MYOM1):c.64G>C (p.Val22Leu) http://identifiers.org/clinvar/227084 ^@ NM_001039876.2(SYNE4):c.225G>A (p.Pro75=) http://identifiers.org/clinvar/229205 ^@ NM_005619.4(RTN2):c.560-1G>T http://identifiers.org/clinvar/227615 ^@ NM_002473.5(MYH9):c.5490C>T (p.Arg1830=) http://identifiers.org/clinvar/229355 ^@ NM_001039141.2(TRIOBP):c.4062+5G>A http://identifiers.org/clinvar/227485 ^@ NM_002294.2(LAMP2):c.657A>G (p.Glu219=) http://identifiers.org/clinvar/227134 ^@ NM_144991.2(TSPEAR):c.1836G>T (p.Ser612=) http://identifiers.org/clinvar/227184 ^@ NM_001692.3(ATP6V1B1):c.77T>C (p.Met26Thr) http://identifiers.org/clinvar/228755 ^@ NM_002230.2(JUP):c.1753A>G (p.Thr585Ala) http://identifiers.org/clinvar/234683 ^@ NM_001039550.1(DNAJB2):c.473G>T (p.Ser158Ile) http://identifiers.org/clinvar/234633 ^@ NM_000136.2(FANCC):c.228G>T (p.Trp76Cys) http://identifiers.org/clinvar/230457 ^@ NM_001128425.1(MUTYH):c.379G>A (p.Ala127Thr) http://identifiers.org/clinvar/229857 ^@ NM_001128425.1(MUTYH):c.322A>G (p.Lys108Glu) http://identifiers.org/clinvar/233557 ^@ NM_001128425.1(MUTYH):c.148G>A (p.Ala50Thr) http://identifiers.org/clinvar/230107 ^@ NM_000465.3(BARD1):c.709C>T (p.Gln237Ter) http://identifiers.org/clinvar/233357 ^@ NM_000179.2(MSH6):c.1957G>A (p.Val653Met) http://identifiers.org/clinvar/263327 ^@ NM_000071.2(CBS):c.537C>T (p.Asp179=) http://identifiers.org/clinvar/265328 ^@ NM_006912.5(RIT1):c.270G>T (p.Met90Ile) http://identifiers.org/clinvar/265579 ^@ NM_000038.5(APC):c.4793_4800delCTTCAAAAinsTGG (p.Ala1598Valfs) http://identifiers.org/clinvar/265478 ^@ NM_001453.2(FOXC1):c.256C>T (p.Leu86Phe) http://identifiers.org/clinvar/265278 ^@ NM_022445.3(TPK1):c.426G>C (p.Leu142Phe) http://identifiers.org/clinvar/265428 ^@ NM_023110.2(FGFR1):c.1864C>G (p.Arg622Gly) http://identifiers.org/clinvar/265528 ^@ NM_003070.4(SMARCA2):c.3021C>G (p.Asn1007Lys) http://identifiers.org/clinvar/265378 ^@ NM_006009.3(TUBA1A):c.367C>T (p.Arg123Cys) http://identifiers.org/clinvar/265679 ^@ NM_001170629.1(CHD8):c.4174-9_4174-1delTCTTCATAG http://identifiers.org/clinvar/265629 ^@ NM_000548.4(TSC2):c.3904G>T (p.Glu1302Ter) http://identifiers.org/clinvar/265764 ^@ NM_021815.4(SLC5A7):c.123_126delCATC (p.Ile42Terfs) http://identifiers.org/clinvar/265868 ^@ NM_022068.3(PIEZO2):c.4723C>T (p.Arg1575Ter) http://identifiers.org/clinvar/265918 ^@ NM_174936.3(PCSK9):c.185C>A (p.Ala62Asp) http://identifiers.org/clinvar/265972 ^@ NM_003611.2(OFD1):c.541dupG (p.Asp181Glyfs*22) http://identifiers.org/clinvar/266024 ^@ NM_019023.2(PRMT7):c.1056-1G>T http://identifiers.org/clinvar/266100 ^@ NM_015681.4(B9D1):c.209T>C (p.Ile70Thr) http://identifiers.org/clinvar/266350 ^@ NM_007294.3(BRCA1):c.3266T>A (p.Leu1089Ter) http://identifiers.org/clinvar/266300 ^@ NM_007294.3(BRCA1):c.2753_2755delAGCinsCA (p.Lys918Thrfs) http://identifiers.org/clinvar/266250 ^@ NM_007294.3(BRCA1):c.2331T>G (p.Tyr777Ter) http://identifiers.org/clinvar/266200 ^@ NM_007294.3(BRCA1):c.1908_1911delTACT (p.Cys636Trpfs) http://identifiers.org/clinvar/266150 ^@ NM_007294.3(BRCA1):c.1261G>T (p.Glu421Ter) http://identifiers.org/clinvar/267926 ^@ 46;XY;t(2;7)(q23;q32);t(5;6)(q23;q26)dn http://identifiers.org/clinvar/267976 ^@ 46;XY;inv(14)(q13q24.1) http://identifiers.org/clinvar/268026 ^@ 46;XX;t(7;14)(p15;q24)dn http://identifiers.org/clinvar/268086 ^@ NM_001177676.1(GPR68):c.221T>C (p.Leu74Pro) http://identifiers.org/clinvar/268143 ^@ NM_005506.3(SCARB2):c.1087C>A (p.His363Asn) http://identifiers.org/clinvar/268214 ^@ NM_000113.2(TOR1A):c.385G>A (p.Val129Ile) http://identifiers.org/clinvar/280147 ^@ NM_005267.4(GJA8):c.139G>C (p.Asp47His) http://identifiers.org/clinvar/290929 ^@ NM_024301.4(FKRP):c.682C>T (p.Leu228Phe) http://identifiers.org/clinvar/290979 ^@ NM_001127701.1(SERPINA1):c.552C>T (p.Tyr184=) http://identifiers.org/clinvar/291029 ^@ NM_138694.3(PKHD1):c.1676G>A (p.Arg559Gln) http://identifiers.org/clinvar/291079 ^@ NM_004369.3(COL6A3):c.8308G>A (p.Val2770Met) http://identifiers.org/clinvar/291129 ^@ NM_182961.3(SYNE1):c.19572G>T (p.Glu6524Asp) http://identifiers.org/clinvar/291180 ^@ NM_003482.3(KMT2D):c.15274T>C (p.Cys5092Arg) http://identifiers.org/clinvar/291230 ^@ NM_001852.3(COL9A2):c.2058C>T (p.Ile686=) http://identifiers.org/clinvar/291280 ^@ NM_003742.2(ABCB11):c.757G>A (p.Gly253Arg) http://identifiers.org/clinvar/291395 ^@ NM_001918.3(DBT):c.*6228A>T http://identifiers.org/clinvar/291687 ^@ NM_004565.2(PEX14):c.*576A>G http://identifiers.org/clinvar/291637 ^@ NM_015074.3(KIF1B):c.*3034C>T http://identifiers.org/clinvar/291737 ^@ NM_007375.3(TARDBP):c.499A>G (p.Met167Val) http://identifiers.org/clinvar/291937 ^@ NM_000036.2(AMPD1):c.202C>T (p.Arg68Cys) http://identifiers.org/clinvar/291887 ^@ NM_013319.2(UBIAD1):c.*969_*970insTTTG http://identifiers.org/clinvar/292137 ^@ NM_001232.3(CASQ2):c.-210_-205dupTGTGTG http://identifiers.org/clinvar/291837 ^@ NM_003051.3(SLC16A1):c.*1064G>T http://identifiers.org/clinvar/291787 ^@ NM_006610.3(MASP2):c.1080G>A (p.Ala360=) http://identifiers.org/clinvar/291987 ^@ NM_002506.2(NGF):c.687T>C (p.Cys229=) http://identifiers.org/clinvar/292187 ^@ NM_005957.4(MTHFR):c.*2801C>T http://identifiers.org/clinvar/292037 ^@ NM_138959.2(VANGL1):c.*1483C>T http://identifiers.org/clinvar/292087 ^@ NM_138959.2(VANGL1):c.*5351G>A http://identifiers.org/clinvar/292237 ^@ NM_005957.4(MTHFR):c.1134C>T (p.Thr378=) http://identifiers.org/clinvar/293176 ^@ NM_000702.3(ATP1A2):c.*1547G>T http://identifiers.org/clinvar/293226 ^@ NM_002857.3(PEX19):c.630A>C (p.Leu210=) http://identifiers.org/clinvar/293476 ^@ NM_005149.2(TBX19):c.761T>C (p.Val254Ala) http://identifiers.org/clinvar/293726 ^@ NM_000639.2(FASLG):c.-16T>C http://identifiers.org/clinvar/293826 ^@ NM_018122.4(DARS2):c.1715A>C (p.Asp572Ala) http://identifiers.org/clinvar/293776 ^@ NM_022089.3(ATP13A2):c.2609+10C>T http://identifiers.org/clinvar/293926 ^@ NM_002065.6(GLUL):c.*850T>C http://identifiers.org/clinvar/293976 ^@ NM_005562.2(LAMC2):c.-256G>C http://identifiers.org/clinvar/293026 ^@ NM_003126.2(SPTA1):c.1834-14delT http://identifiers.org/clinvar/293076 ^@ NM_002241.4(KCNJ10):c.*3074C>T http://identifiers.org/clinvar/293126 ^@ NM_000702.3(ATP1A2):c.339C>T (p.Tyr113=) http://identifiers.org/clinvar/294126 ^@ NM_031935.2(HMCN1):c.3020A>T (p.Asn1007Ile) http://identifiers.org/clinvar/294076 ^@ NM_000433.3(NCF2):c.1360C>T (p.Pro454Ser) http://identifiers.org/clinvar/293426 ^@ NM_004431.4(EPHA2):c.1621G>A (p.Val541Met) http://identifiers.org/clinvar/294176 ^@ NM_031935.2(HMCN1):c.6908T>C (p.Ile2303Thr) http://identifiers.org/clinvar/293276 ^@ NM_004550.4(NDUFS2):c.702+14_702+17dupCGGC http://identifiers.org/clinvar/294276 ^@ NM_031935.2(HMCN1):c.14608+14T>G http://identifiers.org/clinvar/294376 ^@ NM_003748.3(ALDH4A1):c.1221A>G (p.Ala407=) http://identifiers.org/clinvar/293526 ^@ NM_006996.2(SLC19A2):c.795C>T (p.Pro265=) http://identifiers.org/clinvar/294576 ^@ NM_001994.2(F13B):c.1163A>T (p.Glu388Val) http://identifiers.org/clinvar/293576 ^@ NM_000130.4(F5):c.6164G>A (p.Arg2055Gln) http://identifiers.org/clinvar/294626 ^@ NM_018136.4(ASPM):c.5131T>C (p.Cys1711Arg) http://identifiers.org/clinvar/293626 ^@ NM_000130.4(F5):c.1624A>G (p.Ile542Val) http://identifiers.org/clinvar/294726 ^@ NM_000069.2(CACNA1S):c.3861+14G>T http://identifiers.org/clinvar/294776 ^@ NM_000069.2(CACNA1S):c.688G>A (p.Gly230Ser) http://identifiers.org/clinvar/293676 ^@ NM_152281.2(GORAB):c.*980A>T http://identifiers.org/clinvar/293876 ^@ NM_033343.3(LHX4):c.*97T>G http://identifiers.org/clinvar/343418 ^@ NM_003571.3(BFSP2):c.*226C>A http://identifiers.org/clinvar/343468 ^@ NM_000532.4(PCCB):c.603T>C (p.Ala201=) http://identifiers.org/clinvar/344457 ^@ NM_006580.3(CLDN16):c.*761A>G http://identifiers.org/clinvar/343568 ^@ NM_004628.4(XPC):c.1873-10G>T http://identifiers.org/clinvar/344507 ^@ NM_015560.2(OPA1):c.*2115G>A http://identifiers.org/clinvar/344857 ^@ NM_006371.4(CRTAP):c.*2956G>A http://identifiers.org/clinvar/344157 ^@ NM_000340.1(SLC2A2):c.*11C>G http://identifiers.org/clinvar/344257 ^@ NM_181426.1(CCDC39):c.*147G>A http://identifiers.org/clinvar/344307 ^@ NM_020166.4(MCCC1):c.1339G>T (p.Ala447Ser) http://identifiers.org/clinvar/336938 ^@ NM_032601.3(MCEE):c.312T>G (p.Arg104=) http://identifiers.org/clinvar/344357 ^@ NM_005787.5(ALG3):c.477C>T (p.Cys159=) http://identifiers.org/clinvar/344407 ^@ NM_003722.4(TP63):c.*1130_*1133delTGAA http://identifiers.org/clinvar/345357 ^@ NM_020208.3(SLC6A20):c.*2442A>C http://identifiers.org/clinvar/344557 ^@ NM_000461.4(THRB):c.*4470T>C http://identifiers.org/clinvar/344607 ^@ NM_000461.4(THRB):c.*1776delT http://identifiers.org/clinvar/344757 ^@ NM_015141.3(GPD1L):c.*1342G>A http://identifiers.org/clinvar/336988 ^@ NM_003124.4(SPR):c.87G>C (p.Ser29=) http://identifiers.org/clinvar/337038 ^@ NM_015120.4(ALMS1):c.*209A>G http://identifiers.org/clinvar/337088 ^@ NM_004082.4(DCTN1):c.1393-8T>C http://identifiers.org/clinvar/337438 ^@ NM_144563.2(RPIA):c.*256C>T http://identifiers.org/clinvar/345307 ^@ NM_182760.3(SUMF1):c.*292T>A http://identifiers.org/clinvar/337388 ^@ NM_022912.2(REEP1):c.-39_-35dupAGCCG http://identifiers.org/clinvar/337488 ^@ NM_017849.3(TMEM127):c.*1178A>G http://identifiers.org/clinvar/337588 ^@ NM_020184.3(CNNM4):c.1824G>A (p.Pro608=) http://identifiers.org/clinvar/342268 ^@ NM_033084.4(FANCD2):c.1413+3A>G http://identifiers.org/clinvar/342468 ^@ NM_000551.3(VHL):c.*2432T>G http://identifiers.org/clinvar/347196 ^@ NM_198506.4(LRIT3):c.1508C>T (p.Thr503Met) http://identifiers.org/clinvar/342818 ^@ NM_000388.3(CASR):c.*1193C>T http://identifiers.org/clinvar/343018 ^@ NM_000373.3(UMPS):c.*4065C>T http://identifiers.org/clinvar/343068 ^@ NM_025265.3(TSEN2):c.105A>G (p.Lys35=) http://identifiers.org/clinvar/342968 ^@ NM_000373.3(UMPS):c.*2054A>G http://identifiers.org/clinvar/343318 ^@ NM_014382.3(ATP2C1):c.117+7G>A http://identifiers.org/clinvar/343218 ^@ NM_000174.4(GP9):c.-30T>C http://identifiers.org/clinvar/343368 ^@ NM_153240.4(NPHP3):c.*519C>T http://identifiers.org/clinvar/353584 ^@ NM_002310.5(LIFR):c.*1470T>G http://identifiers.org/clinvar/358213 ^@ NM_183050.3(BCKDHB):c.*2282C>T http://identifiers.org/clinvar/358263 ^@ NM_014165.3(NDUFAF4):c.*387C>T http://identifiers.org/clinvar/354573 ^@ NM_002397.4(MEF2C):c.*2353A>C http://identifiers.org/clinvar/362911 ^@ NM_023110.2(FGFR1):c.75G>A (p.Pro25=) http://identifiers.org/clinvar/354623 ^@ NM_000439.4(PCSK1):c.*1231C>T http://identifiers.org/clinvar/363061 ^@ NM_006749.4(SLC20A2):c.*289A>C http://identifiers.org/clinvar/363261 ^@ NM_003068.4(SNAI2):c.*149C>A http://identifiers.org/clinvar/363411 ^@ NM_017813.4(IMPAD1):c.-125C>T http://identifiers.org/clinvar/363511 ^@ NM_017780.3(CHD7):c.*1728T>C http://identifiers.org/clinvar/355073 ^@ NM_000493.3(COL10A1):c.*674A>G http://identifiers.org/clinvar/355374 ^@ NM_006208.2(ENPP1):c.*888C>T http://identifiers.org/clinvar/355174 ^@ NM_000165.4(GJA1):c.*635C>T http://identifiers.org/clinvar/355224 ^@ NM_006073.3(TRDN):c.233-14_233-13delTT http://identifiers.org/clinvar/355324 ^@ NM_006208.2(ENPP1):c.21G>T (p.Ala7=) http://identifiers.org/clinvar/355624 ^@ NM_003764.3(STX11):c.*1521C>T http://identifiers.org/clinvar/361112 ^@ NM_017890.4(VPS13B):c.*740G>C http://identifiers.org/clinvar/355674 ^@ NM_203395.2(IYD):c.323A>G (p.Asn108Ser) http://identifiers.org/clinvar/355474 ^@ NM_172105.3(EYA4):c.*2750C>A http://identifiers.org/clinvar/355574 ^@ NM_003630.2(PEX3):c.96T>C (p.Tyr32=) http://identifiers.org/clinvar/355974 ^@ NM_032122.4(DTNBP1):c.276A>G (p.Thr92=) http://identifiers.org/clinvar/355774 ^@ NM_203395.2(IYD):c.*5468T>C http://identifiers.org/clinvar/356174 ^@ NM_001080.3(ALDH5A1):c.*1674C>T http://identifiers.org/clinvar/356024 ^@ NM_004562.2(PRKN):c.-46C>T http://identifiers.org/clinvar/361162 ^@ NM_015713.4(RRM2B):c.*1121T>C http://identifiers.org/clinvar/365550 ^@ NM_139025.4(ADAMTS13):c.1830C>T (p.Ser610=) http://identifiers.org/clinvar/361463 ^@ NM_001715.2(BLK):c.-375G>A http://identifiers.org/clinvar/357063 ^@ NM_020745.3(AARS2):c.2132G>A (p.Arg711His) http://identifiers.org/clinvar/356963 ^@ NM_006502.2(POLH):c.*2280A>C http://identifiers.org/clinvar/357163 ^@ NM_012120.2(CD2AP):c.-4dupC http://identifiers.org/clinvar/357013 ^@ NM_006502.2(POLH):c.*5697G>A http://identifiers.org/clinvar/361922 ^@ NM_003235.4(TG):c.2295C>T (p.Thr765=) http://identifiers.org/clinvar/366851 ^@ NM_012203.1(GRHPR):c.16C>T (p.Leu6Phe) http://identifiers.org/clinvar/303692 ^@ NM_014384.2(ACAD8):c.*377C>T http://identifiers.org/clinvar/304142 ^@ NM_213599.2(ANO5):c.*1894_*1897delAAGA http://identifiers.org/clinvar/364111 ^@ NM_004612.3(TGFBR1):c.*789G>A http://identifiers.org/clinvar/312740 ^@ NM_000270.3(PNP):c.*317G>A http://identifiers.org/clinvar/312790 ^@ NM_020366.3(RPGRIP1):c.1506C>T (p.Ser502=) http://identifiers.org/clinvar/312990 ^@ NM_000359.2(TGM1):c.359C>T (p.Ser120Leu) http://identifiers.org/clinvar/304542 ^@ NM_000536.3(RAG2):c.*328A>G http://identifiers.org/clinvar/313190 ^@ NM_020937.3(FANCM):c.390C>T (p.Arg130=) http://identifiers.org/clinvar/304692 ^@ NM_021926.3(ALX4):c.*266T>G http://identifiers.org/clinvar/304942 ^@ NM_000256.3(MYBPC3):c.*116T>C http://identifiers.org/clinvar/305094 ^@ NM_017841.2(SDHAF2):c.*58G>A http://identifiers.org/clinvar/305244 ^@ NM_144585.3(SLC22A12):c.1309T>C (p.Leu437=) http://identifiers.org/clinvar/305294 ^@ NM_005609.3(PYGM):c.-789T>C http://identifiers.org/clinvar/305394 ^@ NM_001143985.1(BANF1):c.-421G>A http://identifiers.org/clinvar/306107 ^@ NM_001235.3(SERPINH1):c.693C>T (p.Thr231=) http://identifiers.org/clinvar/306157 ^@ NM_000260.3(MYO7A):c.239G>A (p.Gly80Asp) http://identifiers.org/clinvar/300464 ^@ NM_022124.5(CDH23):c.8775C>T (p.Pro2925=) http://identifiers.org/clinvar/306257 ^@ NM_024698.5(SLC25A22):c.*39C>T http://identifiers.org/clinvar/315729 ^@ NM_152594.2(SPRED1):c.-156delG http://identifiers.org/clinvar/315829 ^@ NM_002225.3(IVD):c.*2285C>G http://identifiers.org/clinvar/317619 ^@ NM_000875.4(IGF1R):c.*5735T>C http://identifiers.org/clinvar/329252 ^@ NM_181882.2(PRX):c.3849A>G (p.Pro1283=) http://identifiers.org/clinvar/329302 ^@ NM_003573.2(LTBP4):c.533-14C>T http://identifiers.org/clinvar/329402 ^@ NM_152296.4(ATP1A3):c.2688+11C>A http://identifiers.org/clinvar/317969 ^@ NM_001287.5(CLCN7):c.95G>C (p.Gly32Ala) http://identifiers.org/clinvar/329752 ^@ NM_000554.5(CRX):c.*2039C>T http://identifiers.org/clinvar/318171 ^@ NM_002474.2(MYH11):c.1571G>A (p.Arg524Gln) http://identifiers.org/clinvar/310036 ^@ NM_000552.4(VWF):c.7800C>T (p.Cys2600=) http://identifiers.org/clinvar/329852 ^@ NM_017636.3(TRPM4):c.1041G>T (p.Leu347=) http://identifiers.org/clinvar/310136 ^@ NM_001038.5(SCNN1A):c.1497+6G>C http://identifiers.org/clinvar/318571 ^@ NM_001089.2(ABCA3):c.614-9C>T http://identifiers.org/clinvar/318371 ^@ NM_001039.3(SCNN1G):c.*659T>C http://identifiers.org/clinvar/310236 ^@ NM_014319.4(LEMD3):c.1628-11A>C http://identifiers.org/clinvar/318421 ^@ NM_000336.2(SCNN1B):c.428C>T (p.Ser143Phe) http://identifiers.org/clinvar/310286 ^@ NM_021150.3(GRIP1):c.*695_*697dupATA http://identifiers.org/clinvar/318771 ^@ NM_173201.3(ATP2A1):c.1176G>A (p.Glu392=) http://identifiers.org/clinvar/337888 ^@ NM_000361.2(THBD):c.920C>T (p.Ser307Leu) http://identifiers.org/clinvar/319221 ^@ NM_032575.2(GLIS2):c.1355C>A (p.Pro452His) http://identifiers.org/clinvar/338038 ^@ NM_032609.2(COX4I2):c.463G>C (p.Val155Leu) http://identifiers.org/clinvar/338238 ^@ NM_032034.3(SLC4A11):c.2241G>C (p.Thr747=) http://identifiers.org/clinvar/338438 ^@ NM_000457.4(HNF4A):c.*277T>C http://identifiers.org/clinvar/338588 ^@ NM_030777.3(SLC2A10):c.-22A>G http://identifiers.org/clinvar/312940 ^@ NM_006177.3(NRL):c.*56G>A http://identifiers.org/clinvar/338738 ^@ NM_006420.2(ARFGEF2):c.*2602A>G http://identifiers.org/clinvar/320211 ^@ NM_001793.5(CDH3):c.-621G>A http://identifiers.org/clinvar/313040 ^@ NM_025152.2(NUBPL):c.*527G>A http://identifiers.org/clinvar/313090 ^@ NM_021914.7(CFL2):c.*541A>G http://identifiers.org/clinvar/320361 ^@ NM_015386.2(COG4):c.*61G>A http://identifiers.org/clinvar/313240 ^@ NM_002408.3(MGAT2):c.-446C>G http://identifiers.org/clinvar/320411 ^@ NM_000353.2(TAT):c.558C>T (p.Tyr186=) http://identifiers.org/clinvar/313290 ^@ NM_018139.2(DNAAF2):c.196G>A (p.Glu66Lys) http://identifiers.org/clinvar/320461 ^@ NM_001361.4(DHODH):c.*1171T>C http://identifiers.org/clinvar/320861 ^@ NM_001127464.2(ZNF469):c.952G>A (p.Val318Met) http://identifiers.org/clinvar/313640 ^@ NM_182914.2(SYNE2):c.18389+7A>T http://identifiers.org/clinvar/339628 ^@ NM_000484.3(APP):c.2133C>A (p.Val711=) http://identifiers.org/clinvar/321061 ^@ NM_001127464.2(ZNF469):c.*907G>A http://identifiers.org/clinvar/321261 ^@ NM_000303.2(PMM2):c.*1103C>T http://identifiers.org/clinvar/314040 ^@ NM_031427.3(DNAL1):c.*1749C>T http://identifiers.org/clinvar/326513 ^@ NM_001943.4(DSG2):c.*788G>C http://identifiers.org/clinvar/342218 ^@ NM_000487.5(ARSA):c.*777C>G http://identifiers.org/clinvar/326663 ^@ NM_032978.6(DTNA):c.476G>A (p.Ser159Asn) http://identifiers.org/clinvar/367769 ^@ NM_002294.2(LAMP2):c.*1617C>T http://identifiers.org/clinvar/326813 ^@ NM_015559.2(SETBP1):c.*4204A>G http://identifiers.org/clinvar/328602 ^@ NM_005535.2(IL12RB1):c.271G>A (p.Ala91Thr) http://identifiers.org/clinvar/326913 ^@ NM_017653.3(DYM):c.-215G>A http://identifiers.org/clinvar/327013 ^@ NM_001080467.2(MYO5B):c.4315+9G>T http://identifiers.org/clinvar/368219 ^@ NM_004006.2(DMD):c.*1049_*1052dupTGAT http://identifiers.org/clinvar/368519 ^@ NM_000084.4(CLCN5):c.*4034A>T http://identifiers.org/clinvar/368669 ^@ NM_001109878.1(TBX22):c.949+12T>G http://identifiers.org/clinvar/329452 ^@ NM_000483.4(APOC2):c.-45C>T http://identifiers.org/clinvar/329502 ^@ NM_000400.3(ERCC2):c.2191-3C>T http://identifiers.org/clinvar/329552 ^@ NM_025136.3(OPA3):c.*7096_*7100delATTAT http://identifiers.org/clinvar/329602 ^@ NM_025136.3(OPA3):c.*4672G>A http://identifiers.org/clinvar/337738 ^@ NM_000214.2(JAG1):c.*378T>G http://identifiers.org/clinvar/337788 ^@ NM_006363.4(SEC23B):c.-24C>T http://identifiers.org/clinvar/329002 ^@ NM_000540.2(RYR1):c.2844C>T (p.Asn948=) http://identifiers.org/clinvar/329052 ^@ NM_000540.2(RYR1):c.6600G>A (p.Ala2200=) http://identifiers.org/clinvar/329102 ^@ NM_000540.2(RYR1):c.10938-12T>A http://identifiers.org/clinvar/329202 ^@ NM_033064.4(ATCAY):c.*3181G>A http://identifiers.org/clinvar/338188 ^@ NM_006892.3(DNMT3B):c.*113G>A http://identifiers.org/clinvar/329352 ^@ NM_030578.3(B9D2):c.-142A>C http://identifiers.org/clinvar/338288 ^@ NM_000178.3(GSS):c.*390G>T http://identifiers.org/clinvar/329652 ^@ NM_025136.3(OPA3):c.*1760C>T http://identifiers.org/clinvar/338688 ^@ NM_006420.2(ARFGEF2):c.1425+15G>A http://identifiers.org/clinvar/329702 ^@ NM_000554.5(CRX):c.*118C>A http://identifiers.org/clinvar/329902 ^@ NM_024729.3(MYH14):c.-3-6C>T http://identifiers.org/clinvar/339478 ^@ NM_012469.3(PRPF6):c.1647+10C>A http://identifiers.org/clinvar/339528 ^@ NM_015192.3(PLCB1):c.*855G>A http://identifiers.org/clinvar/339678 ^@ NM_178817.3(MRAP):c.148G>A (p.Val50Met) http://identifiers.org/clinvar/339728 ^@ NM_000219.5(KCNE1):c.*2150G>A http://identifiers.org/clinvar/339828 ^@ NM_001754.4(RUNX1):c.*2532G>A http://identifiers.org/clinvar/339878 ^@ NM_001754.4(RUNX1):c.97+4T>G http://identifiers.org/clinvar/337938 ^@ NM_198994.2(TGM6):c.1968-11C>T http://identifiers.org/clinvar/340128 ^@ NM_000211.4(ITGB2):c.*222_*224delAGG http://identifiers.org/clinvar/337988 ^@ NM_001042472.2(ABHD12):c.*83G>A http://identifiers.org/clinvar/340328 ^@ NM_001848.2(COL6A1):c.2548C>A (p.Arg850Ser) http://identifiers.org/clinvar/340378 ^@ NM_001849.3(COL6A2):c.2503G>A (p.Val835Ile) http://identifiers.org/clinvar/340529 ^@ NM_006031.5(PCNT):c.7681C>G (p.Arg2561Gly) http://identifiers.org/clinvar/338488 ^@ NM_000457.4(HNF4A):c.*2798_*2799delAC http://identifiers.org/clinvar/338538 ^@ NM_000308.3(CTSA):c.1142+10C>T http://identifiers.org/clinvar/340679 ^@ NM_014339.6(IL17RA):c.*3180G>T http://identifiers.org/clinvar/339578 ^@ NM_000933.3(PLCB4):c.2489-8T>C http://identifiers.org/clinvar/339778 ^@ NM_000219.5(KCNE1):c.-225G>C http://identifiers.org/clinvar/339928 ^@ NM_000411.6(HLCS):c.*2023G>A http://identifiers.org/clinvar/339978 ^@ NM_000411.6(HLCS):c.-294A>C http://identifiers.org/clinvar/340028 ^@ NM_020639.2(RIPK4):c.779G>A (p.Arg260His) http://identifiers.org/clinvar/382878 ^@ NM_000368.4(TSC1):c.21C>G (p.Val7=) http://identifiers.org/clinvar/384130 ^@ NM_018718.2(CEP41):c.278-15A>T http://identifiers.org/clinvar/392958 ^@ NM_020822.2(KCNT1):c.309G>T (p.Leu103=) http://identifiers.org/clinvar/381036 ^@ NM_004376.6(COX15):c.918T>C (p.Phe306=) http://identifiers.org/clinvar/383579 ^@ NM_000136.2(FANCC):c.250+16G>A http://identifiers.org/clinvar/392908 ^@ NM_001081.3(CUBN):c.4787G>A (p.Ser1596Asn) http://identifiers.org/clinvar/383028 ^@ NM_001931.4(DLAT):c.279+13C>A http://identifiers.org/clinvar/386320 ^@ NM_000136.2(FANCC):c.1073-13T>C http://identifiers.org/clinvar/391308 ^@ NM_000256.3(MYBPC3):c.2602+9G>A http://identifiers.org/clinvar/378033 ^@ NM_004519.3(KCNQ3):c.624C>T (p.Ala208=) http://identifiers.org/clinvar/383529 ^@ NM_000314.6(PTEN):c.164+12T>C http://identifiers.org/clinvar/386120 ^@ NM_024698.5(SLC25A22):c.900C>T (p.Gly300=) http://identifiers.org/clinvar/380484 ^@ NM_006904.6(PRKDC):c.9145C>T (p.Leu3049=) http://identifiers.org/clinvar/386670 ^@ NM_006231.3(POLE):c.5173+11G>A http://identifiers.org/clinvar/378235 ^@ NM_002485.4(NBN):c.696C>T (p.Ala232=) http://identifiers.org/clinvar/387120 ^@ NM_006231.3(POLE):c.579-15C>G http://identifiers.org/clinvar/378335 ^@ NM_000920.3(PC):c.2325G>A (p.Thr775=) http://identifiers.org/clinvar/386020 ^@ NM_024537.3(CARS2):c.1531G>A (p.Ala511Thr) http://identifiers.org/clinvar/381926 ^@ NM_006231.3(POLE):c.6766G>A (p.Gly2256Arg) http://identifiers.org/clinvar/380033 ^@ NM_024537.3(CARS2):c.538A>T (p.Ile180Phe) http://identifiers.org/clinvar/382327 ^@ NM_006231.3(POLE):c.2262C>T (p.Tyr754=) http://identifiers.org/clinvar/383780 ^@ NM_017617.4(NOTCH1):c.1669+9T>C http://identifiers.org/clinvar/380333 ^@ NM_021957.3(GYS2):c.520T>C (p.Tyr174His) http://identifiers.org/clinvar/392458 ^@ NM_001376.4(DYNC1H1):c.6732C>T (p.Leu2244=) http://identifiers.org/clinvar/385570 ^@ NM_015346.3(ZFYVE26):c.3210C>T (p.Pro1070=) http://identifiers.org/clinvar/391658 ^@ NM_000136.2(FANCC):c.-78-20A>G http://identifiers.org/clinvar/380434 ^@ NM_000059.3(BRCA2):c.2934T>C (p.Asn978=) http://identifiers.org/clinvar/391758 ^@ NM_025137.3(SPG11):c.6586-7T>C http://identifiers.org/clinvar/377583 ^@ NM_000059.3(BRCA2):c.7618-6G>T http://identifiers.org/clinvar/378440 ^@ NM_000314.6(PTEN):c.635-14A>G http://identifiers.org/clinvar/383078 ^@ NM_022489.3(INF2):c.1791C>T (p.Pro597=) http://identifiers.org/clinvar/384330 ^@ NM_198525.2(KIF7):c.2482G>A (p.Val828Met) http://identifiers.org/clinvar/379832 ^@ NM_015087.4(SPG20):c.1369C>T (p.Arg457Ter) http://identifiers.org/clinvar/391208 ^@ NM_000053.3(ATP7B):c.51+13C>T http://identifiers.org/clinvar/381876 ^@ NM_005050.3(ABCD4):c.1411C>T (p.Arg471Trp) http://identifiers.org/clinvar/381186 ^@ NM_001013703.3(EIF2AK4):c.*5A>G http://identifiers.org/clinvar/386620 ^@ NM_000256.3(MYBPC3):c.2149-3C>T http://identifiers.org/clinvar/384280 ^@ NM_005609.3(PYGM):c.424+17G>A http://identifiers.org/clinvar/384080 ^@ NM_130799.2(MEN1):c.1609G>A (p.Val537Met) http://identifiers.org/clinvar/392858 ^@ NM_005249.4(FOXG1):c.9C>T (p.Asp3=) http://identifiers.org/clinvar/382026 ^@ NM_001083614.1(EARS2):c.63C>T (p.Pro21=) http://identifiers.org/clinvar/390169 ^@ NM_016156.5(MTMR2):c.825T>A (p.Pro275=) http://identifiers.org/clinvar/382277 ^@ NM_016417.2(GLRX5):c.204C>T (p.Gly68=) http://identifiers.org/clinvar/391458 ^@ NM_000138.4(FBN1):c.4210+10C>T http://identifiers.org/clinvar/377933 ^@ NM_000833.4(GRIN2A):c.-190C>G http://identifiers.org/clinvar/392058 ^@ NM_015335.4(MED13L):c.4051C>T (p.Gln1351Ter) http://identifiers.org/clinvar/386370 ^@ NM_020778.4(ALPK3):c.3037G>A (p.Glu1013Lys) http://identifiers.org/clinvar/390219 ^@ NM_020778.4(ALPK3):c.5332G>A (p.Val1778Ile) http://identifiers.org/clinvar/382628 ^@ NM_000548.4(TSC2):c.4180C>T (p.Leu1394=) http://identifiers.org/clinvar/47435 ^@ NM_133378.4(TTN):c.76744T>C (p.Tyr25582His) http://identifiers.org/clinvar/47485 ^@ NM_133378.4(TTN):c.81432C>T (p.Asn27144=) http://identifiers.org/clinvar/47535 ^@ NM_001256850.1(TTN):c.88974delT (p.Phe29658Leufs) http://identifiers.org/clinvar/47585 ^@ NM_001256850.1(TTN):c.92495G>A (p.Arg30832His) http://identifiers.org/clinvar/47635 ^@ NM_133378.4(TTN):c.93546C>G (p.Ile31182Met) http://identifiers.org/clinvar/47685 ^@ NM_133378.4(TTN):c.97479G>A (p.Ala32493=) http://identifiers.org/clinvar/47735 ^@ NM_133378.4(TTN):c.10360+1920G>C http://identifiers.org/clinvar/47785 ^@ NM_133379.4(TTN):c.15338C>T (p.Ala5113Val) http://identifiers.org/clinvar/47835 ^@ NM_001256850.1(TTN):c.12251G>A (p.Arg4084Gln) http://identifiers.org/clinvar/47885 ^@ NM_139319.2(SLC17A8):c.711G>A (p.Leu237=) http://identifiers.org/clinvar/47935 ^@ NM_144612.6(LOXHD1):c.3657T>A (p.Asp1219Glu) http://identifiers.org/clinvar/47985 ^@ NM_153676.3(USH1C):c.1889T>C (p.Leu630Pro) http://identifiers.org/clinvar/48037 ^@ NM_005572.3(LMNA):c.1338T>C (p.Asp446=) http://identifiers.org/clinvar/48087 ^@ NM_005572.3(LMNA):c.860C>T (p.Ala287Val) http://identifiers.org/clinvar/48137 ^@ NM_173477.4(USH1G):c.734C>T (p.Ser245Leu) http://identifiers.org/clinvar/48187 ^@ NM_194248.2(OTOF):c.2153G>A (p.Trp718Ter) http://identifiers.org/clinvar/48237 ^@ NM_194248.2(OTOF):c.4548C>T (p.Tyr1516=) http://identifiers.org/clinvar/48287 ^@ NM_198056.2(SCN5A):c.1587T>C (p.Ile529=) http://identifiers.org/clinvar/48338 ^@ NM_206883.2(SLC26A5):c.292+8_292+9dupGA http://identifiers.org/clinvar/48388 ^@ NM_206933.2(USH2A):c.11954G>A (p.Trp3985Ter) http://identifiers.org/clinvar/48438 ^@ NM_206933.2(USH2A):c.14481C>T (p.Ala4827=) http://identifiers.org/clinvar/48488 ^@ NM_206933.2(USH2A):c.2546G>A (p.Cys849Tyr) http://identifiers.org/clinvar/64 ^@ NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser) http://identifiers.org/clinvar/78 ^@ NM_000235.3(LIPA):c.796G>T (p.Gly266Ter) http://identifiers.org/clinvar/103 ^@ NM_001029883.2(C2orf71):c.947delA (p.Asn316Metfs) http://identifiers.org/clinvar/122 ^@ NM_000071.2(CBS):c.430G>A (p.Glu144Lys) http://identifiers.org/clinvar/254 ^@ NM_004628.4(XPC):c.621_622ins83 (p.?) http://identifiers.org/clinvar/649 ^@ NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys) http://identifiers.org/clinvar/789 ^@ NM_015141.3(GPD1L):c.817C>T (p.Arg273Cys) http://identifiers.org/clinvar/821 ^@ NM_000038.5(APC):c.5582_5585delCTTT (p.Ser1861Terfs) http://identifiers.org/clinvar/1049 ^@ NM_015311.2(OBSL1):c.1465C>T (p.Arg489Ter) http://identifiers.org/clinvar/1135 ^@ NM_001142617.1(STRA6):c.1963C>T (p.Arg655Cys) http://identifiers.org/clinvar/1175 ^@ CYP11B1, 2-BP INS http://identifiers.org/clinvar/1270 ^@ NM_024642.4(GALNT12):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/1315 ^@ NM_001174089.1(SLC4A11):c.2518A>G (p.Met840Val) http://identifiers.org/clinvar/1360 ^@ NG_008161.1:g.31299_33753del2455 http://identifiers.org/clinvar/1406 ^@ TMPRSS6, 1-BP DEL, 1383A http://identifiers.org/clinvar/1903 ^@ NM_000060.4(BTD):c.1466A>C (p.Asn489Thr) http://identifiers.org/clinvar/1949 ^@ NM_030957.3(ADAMTS10):c.1553G>A (p.Gly518Asp) http://identifiers.org/clinvar/1994 ^@ NM_031220.3(PITPNM3):c.1878G>C (p.Gln626His) http://identifiers.org/clinvar/2038 ^@ NM_017780.3(CHD7):c.4795C>T (p.Gln1599Ter) http://identifiers.org/clinvar/2083 ^@ NM_000159.3(GCDH):c.877G>A (p.Ala293Thr) http://identifiers.org/clinvar/2129 ^@ NM_005787.5(ALG3):c.512G>A (p.Arg171Gln) http://identifiers.org/clinvar/2176 ^@ NM_022370.3(ROBO3):c.1366G>T (p.Gly456Ter) http://identifiers.org/clinvar/2220 ^@ NM_000551.3(VHL):c.263G>C (p.Trp88Ser) http://identifiers.org/clinvar/2266 ^@ CYBA, 36-BP DEL http://identifiers.org/clinvar/2311 ^@ PYGM, 1-BP INS, A/8-BP DEL, CODON 387 http://identifiers.org/clinvar/2357 ^@ NM_206933.2(USH2A):c.11864G>A (p.Trp3955Ter) http://identifiers.org/clinvar/2402 ^@ NM_000048.3(ASL):c.532G>A (p.Val178Met) http://identifiers.org/clinvar/2448 ^@ NEU1, 1-BP DEL, 623G http://identifiers.org/clinvar/2494 ^@ EXT1, 4-BP INS, NT1035 http://identifiers.org/clinvar/2588 ^@ NM_198586.2(NHLRC1):c.468_469delAG (p.Gly158Argfs) http://identifiers.org/clinvar/2632 ^@ NM_153240.4(NPHP3):c.3824_3826delGAG (p.Gly1275del) http://identifiers.org/clinvar/10344 ^@ F8, EX16-26DEL http://identifiers.org/clinvar/10394 ^@ NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) http://identifiers.org/clinvar/10441 ^@ NM_000166.5(GJB1):c.283G>A (p.Val95Met) http://identifiers.org/clinvar/10535 ^@ NM_000292.2(PHKA2):c.557G>A (p.Arg186His) http://identifiers.org/clinvar/10580 ^@ NM_000133.3(F9):c.329A>G (p.Asp110Gly) http://identifiers.org/clinvar/10625 ^@ F9, EX4DEL http://identifiers.org/clinvar/10671 ^@ FAM58A, 40-KB DEL http://identifiers.org/clinvar/10716 ^@ NM_000169.2(GLA):c.131G>A (p.Trp44Ter) http://identifiers.org/clinvar/10761 ^@ GLA, EX6-7DEL http://identifiers.org/clinvar/10806 ^@ MID1, 24-BP DUP http://identifiers.org/clinvar/10851 ^@ NM_000054.4(AVPR2):c.313T>G (p.Phe105Val) http://identifiers.org/clinvar/10898 ^@ NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) http://identifiers.org/clinvar/10942 ^@ NG_008178.1:g.(71738_72262)_(72384_72493)del http://identifiers.org/clinvar/10989 ^@ NM_000531.5(OTC):c.332T>C (p.Leu111Pro) http://identifiers.org/clinvar/11032 ^@ NM_001399.4(EDA):c.206G>T (p.Arg69Leu) http://identifiers.org/clinvar/11078 ^@ PLP1, DEL http://identifiers.org/clinvar/11122 ^@ NM_000377.2(WAS):c.244T>C (p.Ser82Pro) http://identifiers.org/clinvar/11169 ^@ CD40LG, 1-BP INS, TTT-TTTT, FS84TER http://identifiers.org/clinvar/11213 ^@ NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) http://identifiers.org/clinvar/11259 ^@ DMD, 1-BP DEL, 6408C http://identifiers.org/clinvar/11303 ^@ NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs) http://identifiers.org/clinvar/11395 ^@ BTK, 2-BP DEL, 54TG http://identifiers.org/clinvar/11455 ^@ IKBKG, 1-BP DUP, 1167C http://identifiers.org/clinvar/11506 ^@ CDKL5, 2-BP INS, 903GA http://identifiers.org/clinvar/11557 ^@ NM_001159702.2(FHL1):c.625T>C (p.Cys209Arg) http://identifiers.org/clinvar/11607 ^@ NM_178152.2(DCX):c.233G>A (p.Arg78His) http://identifiers.org/clinvar/11657 ^@ NM_004586.2(RPS6KA3):c.2065C>T (p.Gln689Ter) http://identifiers.org/clinvar/11708 ^@ NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) http://identifiers.org/clinvar/11759 ^@ NM_001110556.1(FLNA):c.3596C>T (p.Ser1199Leu) http://identifiers.org/clinvar/11810 ^@ NM_004992.3(MECP2):c.464T>C (p.Phe155Ser) http://identifiers.org/clinvar/11860 ^@ NM_000260.3(MYO7A):c.1996C>T (p.Arg666Ter) http://identifiers.org/clinvar/11910 ^@ NM_000203.4(IDUA):c.1598C>G (p.Pro533Arg) http://identifiers.org/clinvar/11960 ^@ NM_014425.4(INVS):c.1478T>C (p.Leu493Ser) http://identifiers.org/clinvar/12012 ^@ PCCB, 8-BP DEL, NT3 http://identifiers.org/clinvar/12062 ^@ F10, ASP282ASN http://identifiers.org/clinvar/12112 ^@ C7, 11-BP DEL, NT631 http://identifiers.org/clinvar/12162 ^@ NM_000500.7(CYP21A2):c.28_30dupCTG (p.Leu10_Pro11insLeu) http://identifiers.org/clinvar/12217 ^@ NM_000490.4(AVP):c.275G>A (p.Cys92Tyr) http://identifiers.org/clinvar/12268 ^@ NM_000463.2(UGT1A1):c.991C>T (p.Gln331Ter) http://identifiers.org/clinvar/12674 ^@ NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) http://identifiers.org/clinvar/12726 ^@ NM_000367.4(TPMT):c.644G>A (p.Arg215His) http://identifiers.org/clinvar/36664 ^@ NM_000475.4(NR0B1):c.1094T>C (p.Leu365Pro) http://identifiers.org/clinvar/36716 ^@ NM_000536.3(RAG2):c.104G>C (p.Gly35Ala) http://identifiers.org/clinvar/36769 ^@ NM_003000.2(SDHB):c.423+20T>A http://identifiers.org/clinvar/36819 ^@ NM_000545.6(HNF1A):c.326+4A>G http://identifiers.org/clinvar/37597 ^@ NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys) http://identifiers.org/clinvar/37650 ^@ NM_007294.3(BRCA1):c.5242G>T (p.Gly1748Cys) http://identifiers.org/clinvar/37707 ^@ NM_007294.3(BRCA1):c.85G>T (p.Glu29Ter) http://identifiers.org/clinvar/37757 ^@ NM_000059.3(BRCA2):c.1799A>G (p.Tyr600Cys) http://identifiers.org/clinvar/37811 ^@ NM_000059.3(BRCA2):c.2957_2958insG (p.Asn986Lysfs) http://identifiers.org/clinvar/37862 ^@ NM_000059.3(BRCA2):c.3865_3868delAAAT (p.Lys1289Alafs) http://identifiers.org/clinvar/37916 ^@ NM_000059.3(BRCA2):c.464G>C (p.Arg155Thr) http://identifiers.org/clinvar/37970 ^@ NM_000059.3(BRCA2):c.5498delA (p.Asn1833Ilefs) http://identifiers.org/clinvar/38021 ^@ NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) http://identifiers.org/clinvar/38075 ^@ NM_000059.3(BRCA2):c.6944_6947delTAAA (p.Ile2315Lysfs) http://identifiers.org/clinvar/38125 ^@ NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys) http://identifiers.org/clinvar/38175 ^@ NM_000059.3(BRCA2):c.8647C>T (p.Pro2883Ser) http://identifiers.org/clinvar/38225 ^@ NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) http://identifiers.org/clinvar/38281 ^@ NM_000060.4(BTD):c.734G>A (p.Cys245Tyr) http://identifiers.org/clinvar/38339 ^@ NM_000426.3(LAMA2):c.1854_1861dupACGTGTTC (p.Leu621Hisfs) http://identifiers.org/clinvar/38398 ^@ NM_014252.3(SLC25A15):c.44C>A (p.Ala15Glu) http://identifiers.org/clinvar/38459 ^@ NP_742105.1:p.Lys554Asn http://identifiers.org/clinvar/38621 ^@ NM_020975.4(RET):c.1832_1833delGCinsTT (p.Cys611Phe) http://identifiers.org/clinvar/38890 ^@ NM_000553.4(WRN):c.3590delA (p.Asn1197Thrfs) http://identifiers.org/clinvar/38951 ^@ NM_001363.4(DKC1):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/39003 ^@ NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370) http://identifiers.org/clinvar/39053 ^@ NM_024312.4(GNPTAB):c.242G>T (p.Trp81Leu) http://identifiers.org/clinvar/39107 ^@ NM_198253.2(TERT):c.2097C>T (p.Ala699=) http://identifiers.org/clinvar/39160 ^@ NM_198578.3(LRRK2):c.3021T= (p.Ser1007=) http://identifiers.org/clinvar/39210 ^@ NM_198578.3(LRRK2):c.5467C>A (p.Gln1823Lys) http://identifiers.org/clinvar/39261 ^@ NM_207352.3(CYP4V2):c.283G>A (p.Gly95Arg) http://identifiers.org/clinvar/39422 ^@ NM_001204.6(BMPR2):c.604A>T (p.Asn202Tyr) http://identifiers.org/clinvar/39474 ^@ NM_001567.3(INPPL1):c.545C>A (p.Ser182Ter) http://identifiers.org/clinvar/39525 ^@ NM_000359.2(TGM1):c.305A>T (p.Asp102Val) http://identifiers.org/clinvar/40972 ^@ NC_000005.10:g.104486890_104506841del19952 http://identifiers.org/clinvar/52598 ^@ NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) http://identifiers.org/clinvar/52649 ^@ NM_000059.3(BRCA2):c.8646_8649delACCA (p.Lys2882Asnfs) http://identifiers.org/clinvar/52700 ^@ NM_000059.3(BRCA2):c.8915T>G (p.Leu2972Trp) http://identifiers.org/clinvar/52751 ^@ NM_000059.3(BRCA2):c.9104A>G (p.Tyr3035Cys) http://identifiers.org/clinvar/52802 ^@ NM_000059.3(BRCA2):c.9275_9278delATTT (p.Tyr3092Cysfs) http://identifiers.org/clinvar/52853 ^@ NM_000059.3(BRCA2):c.9501+1G>A http://identifiers.org/clinvar/52903 ^@ NM_000059.3(BRCA2):c.9820T>G (p.Leu3274Val) http://identifiers.org/clinvar/52953 ^@ NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) http://identifiers.org/clinvar/53003 ^@ NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) http://identifiers.org/clinvar/53053 ^@ NM_000218.2(KCNQ1):c.502G>C (p.Gly168Arg) http://identifiers.org/clinvar/53103 ^@ NM_000218.2(KCNQ1):c.781G>A (p.Glu261Lys) http://identifiers.org/clinvar/53155 ^@ NM_000492.3(CFTR):c.*2G>A http://identifiers.org/clinvar/53207 ^@ NM_000492.3(CFTR):c.1175T>G (p.Val392Gly) http://identifiers.org/clinvar/53259 ^@ NM_000492.3(CFTR):c.1466C>A (p.Ser489Ter) http://identifiers.org/clinvar/53310 ^@ NM_000492.3(CFTR):c.1642_1643delCT (p.Leu548Glufs) http://identifiers.org/clinvar/53360 ^@ NM_000492.3(CFTR):c.1726G>T (p.Gly576Ter) http://identifiers.org/clinvar/53410 ^@ NM_000492.3(CFTR):c.1897C>A (p.Leu633Ile) http://identifiers.org/clinvar/53462 ^@ NM_000492.3(CFTR):c.2252G>C (p.Arg751Pro) http://identifiers.org/clinvar/53515 ^@ NM_000492.3(CFTR):c.2583delT (p.Phe861Leufs) http://identifiers.org/clinvar/53565 ^@ NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) http://identifiers.org/clinvar/53615 ^@ NM_000492.3(CFTR):c.2989-3C>G http://identifiers.org/clinvar/53667 ^@ NM_000492.3(CFTR):c.3160C>G (p.His1054Asp) http://identifiers.org/clinvar/53718 ^@ NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) http://identifiers.org/clinvar/53769 ^@ NM_000492.3(CFTR):c.3540delA (p.Lys1180Asnfs) http://identifiers.org/clinvar/53821 ^@ NM_000492.3(CFTR):c.3844T>G (p.Trp1282Gly) http://identifiers.org/clinvar/53873 ^@ NM_000492.3(CFTR):c.4009T>G (p.Phe1337Val) http://identifiers.org/clinvar/53924 ^@ NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) http://identifiers.org/clinvar/53974 ^@ NM_000492.3(CFTR):c.490-1G>A http://identifiers.org/clinvar/54024 ^@ NM_000492.3(CFTR):c.606G>A (p.Trp202Ter) http://identifiers.org/clinvar/54076 ^@ NM_000492.3(CFTR):c.870-3T>G http://identifiers.org/clinvar/54327 ^@ NM_007294.3(BRCA1):c.1700delA (p.Asn567Ilefs) http://identifiers.org/clinvar/54378 ^@ NM_007294.3(BRCA1):c.1881C>G (p.Val627=) http://identifiers.org/clinvar/54428 ^@ NM_007294.3(BRCA1):c.1995C>G (p.Asn665Lys) http://identifiers.org/clinvar/54528 ^@ NM_007294.3(BRCA1):c.230C>G (p.Thr77Arg) http://identifiers.org/clinvar/55374 ^@ NM_007294.3(BRCA1):c.5073A>G (p.Thr1691=) http://identifiers.org/clinvar/55424 ^@ NM_007294.3(BRCA1):c.5152+2dupT http://identifiers.org/clinvar/55474 ^@ NM_007294.3(BRCA1):c.5241A>C (p.Gln1747His) http://identifiers.org/clinvar/55527 ^@ NM_007294.3(BRCA1):c.5332+1G>A http://identifiers.org/clinvar/55577 ^@ NM_007294.3(BRCA1):c.5431C>T (p.Gln1811Ter) http://identifiers.org/clinvar/55627 ^@ NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) http://identifiers.org/clinvar/55679 ^@ NM_007294.3(BRCA1):c.722C>T (p.Pro241Leu) http://identifiers.org/clinvar/55730 ^@ NM_007294.3(BRCA1):c.836A>G (p.His279Arg) http://identifiers.org/clinvar/55792 ^@ NM_000059.3(BRCA2):c.2835delA (p.Asp946Ilefs) http://identifiers.org/clinvar/55859 ^@ NM_015250.3(BICD2):c.563A>C (p.Asn188Thr) http://identifiers.org/clinvar/55938 ^@ NM_000027.3(AGA):c.192T>A (p.Cys64Ter) http://identifiers.org/clinvar/55989 ^@ NM_000111.2(SLC26A3):c.2063-1G>T http://identifiers.org/clinvar/56042 ^@ NM_000170.2(GLDC):c.1319T>A (p.Ile440Asn) http://identifiers.org/clinvar/56093 ^@ NM_000170.2(GLDC):c.2919+1G>A http://identifiers.org/clinvar/56147 ^@ NM_000243.2(MEFV):c.1996A>G (p.Ile666Val) http://identifiers.org/clinvar/56198 ^@ NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) http://identifiers.org/clinvar/56249 ^@ NM_001042432.1(CLN3):c.105G>A (p.Trp35Ter) http://identifiers.org/clinvar/56299 ^@ NM_001080522.2(CC2D2A):c.2486+1G>C http://identifiers.org/clinvar/56351 ^@ NM_001126105.2(SLC7A7):c.1158C>A (p.Ser386Arg) http://identifiers.org/clinvar/56403 ^@ NM_004260.3(RECQL4):c.1910T>C (p.Phe637Ser) http://identifiers.org/clinvar/56453 ^@ NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) http://identifiers.org/clinvar/56503 ^@ NM_004646.3(NPHS1):c.3720_*9del16 http://identifiers.org/clinvar/56554 ^@ NM_012434.4(SLC17A5):c.291G>A (p.Thr97=) http://identifiers.org/clinvar/56608 ^@ NM_017739.3(POMGNT1):c.879+5G>A http://identifiers.org/clinvar/56662 ^@ NM_017890.4(VPS13B):c.4334delA (p.Gln1445Argfs) http://identifiers.org/clinvar/56712 ^@ NM_018941.3(CLN8):c.509C>T (p.Thr170Met) http://identifiers.org/clinvar/101260 ^@ NM_000090.3(COL3A1):c.582+6T>A (p.Gly177_Pro194del) http://identifiers.org/clinvar/101310 ^@ NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu) http://identifiers.org/clinvar/103138 ^@ NM_024618.3(NLRX1):c.230-120T>C http://identifiers.org/clinvar/103188 ^@ NM_032206.4(NLRC5):c.4018G>A (p.Val1340Met) http://identifiers.org/clinvar/103238 ^@ NM_138329.2(NLRP6):c.2105+362T>C http://identifiers.org/clinvar/103288 ^@ NM_153447.4(NLRP5):c.2958-33C>A http://identifiers.org/clinvar/103338 ^@ NM_176821.3(NLRP10):c.289+41G>T http://identifiers.org/clinvar/111212 ^@ NM_000416.2(IFNGR1):c.373+297dupA http://identifiers.org/clinvar/111262 ^@ NM_003263.3(TLR1):c.1625T>C (p.Val542Ala) http://identifiers.org/clinvar/120223 ^@ NM_005343.3(HRAS):c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp) http://identifiers.org/clinvar/120274 ^@ NM_000277.1(PAH):c.350delC (p.Thr117Lysfs) http://identifiers.org/clinvar/120324 ^@ NM_005211.3(CSF1R):c.2342C>A (p.Ala781Glu) http://identifiers.org/clinvar/125488 ^@ NM_007294.3(BRCA1):c.1129dupA (p.Ser377Lysfs) http://identifiers.org/clinvar/125563 ^@ NM_007294.3(BRCA1):c.134+1G>C http://identifiers.org/clinvar/125650 ^@ NM_007294.3(BRCA1):c.3771_3772delGG (p.Asn1259Phefs) http://identifiers.org/clinvar/125714 ^@ NM_007294.3(BRCA1):c.4484+61G>T http://identifiers.org/clinvar/125781 ^@ U14680.1:n.5271+80delT http://identifiers.org/clinvar/125853 ^@ NM_007294.3(BRCA1):c.5467+9C>T http://identifiers.org/clinvar/125912 ^@ U14680.1:n.790-98A>C http://identifiers.org/clinvar/125978 ^@ NM_000059.3(BRCA2):c.2212dupT (p.Cys738Leufs) http://identifiers.org/clinvar/126037 ^@ NM_000059.3(BRCA2):c.4131_4132insTGAGGA (p.Thr1378_Gly1712delinsTer) http://identifiers.org/clinvar/126114 ^@ NM_000059.3(BRCA2):c.6658_6662delGAAAA (p.Glu2220Leufs) http://identifiers.org/clinvar/126173 ^@ NM_000059.3(BRCA2):c.8278_8279ins71 (p.?) http://identifiers.org/clinvar/126237 ^@ NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) http://identifiers.org/clinvar/126287 ^@ NM_024809.4(TCTN2):c.225C>T (p.Asn75=) http://identifiers.org/clinvar/126338 ^@ NM_020732.3(ARID1B):c.939_944delCGGCGG (p.Gly318_Gly319del) http://identifiers.org/clinvar/126394 ^@ NM_016381.5(TREX1):c.1072A>C (p.Thr358Pro) http://identifiers.org/clinvar/126462 ^@ NM_021625.4(TRPV4):c.1024G>T (p.Val342Phe) http://identifiers.org/clinvar/126524 ^@ NM_173849.2(GSC):c.355+1G>C http://identifiers.org/clinvar/126599 ^@ NM_024675.3(PALB2):c.1380A>G (p.Gln460=) http://identifiers.org/clinvar/127325 ^@ NM_000038.5(APC):c.8261G>A (p.Ser2754Asn) http://identifiers.org/clinvar/127375 ^@ NM_000051.3(ATM):c.382G>A (p.Val128Met) http://identifiers.org/clinvar/127425 ^@ NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) http://identifiers.org/clinvar/127476 ^@ NM_000057.3(BLM):c.1348A>G (p.Met450Val) http://identifiers.org/clinvar/127526 ^@ NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) http://identifiers.org/clinvar/127576 ^@ NM_000179.2(MSH6):c.2960C>T (p.Thr987Ile) http://identifiers.org/clinvar/127627 ^@ NM_000251.2(MSH2):c.1182T>G (p.Phe394Leu) http://identifiers.org/clinvar/127684 ^@ NM_000314.6(PTEN):c.-975G>A http://identifiers.org/clinvar/127787 ^@ NM_000535.6(PMS2):c.2575A>G (p.Ile859Val) http://identifiers.org/clinvar/160346 ^@ NM_002460.3(IRF4):c.492+386C>T http://identifiers.org/clinvar/160806 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 http://identifiers.org/clinvar/160857 ^@ GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1 http://identifiers.org/clinvar/160909 ^@ GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 http://identifiers.org/clinvar/160961 ^@ GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 http://identifiers.org/clinvar/161012 ^@ GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 http://identifiers.org/clinvar/161062 ^@ GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 http://identifiers.org/clinvar/161112 ^@ NM_005214.4(CTLA4):c.105C>A (p.Cys35Ter) http://identifiers.org/clinvar/161191 ^@ NM_001281520.1(MCM8):c.446C>G (p.Pro149Arg) http://identifiers.org/clinvar/161395 ^@ NM_001024847.2(TGFBR2):c.1060G>A (p.Ala354Thr) http://identifiers.org/clinvar/161344 ^@ NM_000313.3(PROS1):c.1762A>G (p.Thr588Ala) http://identifiers.org/clinvar/161294 ^@ NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) http://identifiers.org/clinvar/161244 ^@ NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) http://identifiers.org/clinvar/161563 ^@ NM_001198801.1(EIF4G3):c.2650G>T (p.Asp884Tyr) http://identifiers.org/clinvar/161813 ^@ NM_152389.3(CFAP65):c.405delT (p.Leu136Serfs) http://identifiers.org/clinvar/161713 ^@ NM_018189.3(DPPA4):c.907T>C (p.Trp303Arg) http://identifiers.org/clinvar/161463 ^@ NM_000283.3(PDE6B):c.1401+8_1401+9insA http://identifiers.org/clinvar/161513 ^@ NM_001105515.2(ABCC4):c.1645G>T (p.Val549Leu) http://identifiers.org/clinvar/161663 ^@ NM_012426.4(SF3B3):c.1501G>T (p.Gly501Trp) http://identifiers.org/clinvar/161613 ^@ NM_003367.3(USF2):c.497G>A (p.Arg166Gln) http://identifiers.org/clinvar/161763 ^@ NM_022785.3(EFCAB6):c.314C>T (p.Pro105Leu) http://identifiers.org/clinvar/161975 ^@ NM_001845.5(COL4A1):c.2317G>C (p.Gly773Arg) http://identifiers.org/clinvar/162042 ^@ NM_004183.3(BEST1):c.172_173dupCA (p.Gln58Hisfs) http://identifiers.org/clinvar/162098 ^@ NM_032122.4(DTNBP1):c.177G>A (p.Trp59Ter) http://identifiers.org/clinvar/162162 ^@ NR_038264.1(ADAMTS9-AS2):n.469+34351C>T http://identifiers.org/clinvar/178113 ^@ NM_001035.2(RYR2):c.385-14T>C http://identifiers.org/clinvar/177760 ^@ NM_206933.2(USH2A):c.14803C>T (p.Arg4935Ter) http://identifiers.org/clinvar/163756 ^@ NM_004700.3(KCNQ4):c.1818C>G (p.Asp606Glu) http://identifiers.org/clinvar/179671 ^@ NM_133378.4(TTN):c.87705C>T (p.Asn29235=) http://identifiers.org/clinvar/165883 ^@ NM_133378.4(TTN):c.59400A>C (p.Lys19800Asn) http://identifiers.org/clinvar/178163 ^@ NM_133378.4(TTN):c.90852T>C (p.Gly30284=) http://identifiers.org/clinvar/165726 ^@ NM_001256850.1(TTN):c.88802G>A (p.Arg29601His) http://identifiers.org/clinvar/179921 ^@ NM_133378.4(TTN):c.82135C>T (p.Arg27379Ter) http://identifiers.org/clinvar/179721 ^@ NM_133378.4(TTN):c.38446C>G (p.Leu12816Val) http://identifiers.org/clinvar/178213 ^@ NM_133378.4(TTN):c.37080T>C (p.Asp12360=) http://identifiers.org/clinvar/166074 ^@ NM_001256850.1(TTN):c.35980G>A (p.Ala11994Thr) http://identifiers.org/clinvar/179871 ^@ NM_133379.4(TTN):c.10410C>T (p.Asp3470=) http://identifiers.org/clinvar/166225 ^@ NM_133378.4(TTN):c.10965C>T (p.Ser3655=) http://identifiers.org/clinvar/178263 ^@ NM_133378.4(TTN):c.10360+2007G>C http://identifiers.org/clinvar/178513 ^@ NM_194248.2(OTOF):c.1035C>T (p.Tyr345=) http://identifiers.org/clinvar/165380 ^@ NM_198253.2(TERT):c.969G>A (p.Pro323=) http://identifiers.org/clinvar/166614 ^@ NM_006005.3(WFS1):c.2667G>A (p.Ala889=) http://identifiers.org/clinvar/165969 ^@ NM_133378.4(TTN):c.47670C>G (p.Ser15890Arg) http://identifiers.org/clinvar/178363 ^@ NM_032119.3(ADGRV1):c.10527C>T (p.Ser3509=) http://identifiers.org/clinvar/198458 ^@ NM_003494.3(DYSF):c.790G>T (p.Glu264Ter) http://identifiers.org/clinvar/203089 ^@ NM_001256850.1(TTN):c.100126A>G (p.Thr33376Ala) http://identifiers.org/clinvar/203039 ^@ NM_001256850.1(TTN):c.93668T>C (p.Val31223Ala) http://identifiers.org/clinvar/231007 ^@ NM_000038.5(APC):c.4599T>C (p.Asn1533=) http://identifiers.org/clinvar/233809 ^@ NM_000038.5(APC):c.6649C>T (p.Leu2217Phe) http://identifiers.org/clinvar/231057 ^@ NM_000535.6(PMS2):c.1966G>A (p.Glu656Lys) http://identifiers.org/clinvar/230707 ^@ NM_000314.6(PTEN):c.780A>G (p.Lys260=) http://identifiers.org/clinvar/233657 ^@ NM_000051.3(ATM):c.2638+3A>G http://identifiers.org/clinvar/234110 ^@ NM_000051.3(ATM):c.7191A>G (p.Gln2397=) http://identifiers.org/clinvar/230857 ^@ NM_000059.3(BRCA2):c.3525G>A (p.Gln1175=) http://identifiers.org/clinvar/234160 ^@ NM_000059.3(BRCA2):c.6316C>T (p.Leu2106Phe) http://identifiers.org/clinvar/230907 ^@ NM_000059.3(BRCA2):c.10159A>G (p.Thr3387Ala) http://identifiers.org/clinvar/233910 ^@ NM_024675.3(PALB2):c.2217T>C (p.Pro739=) http://identifiers.org/clinvar/229718 ^@ NM_024675.3(PALB2):c.2117C>T (p.Thr706Ile) http://identifiers.org/clinvar/233707 ^@ NM_024675.3(PALB2):c.22C>G (p.Pro8Ala) http://identifiers.org/clinvar/233759 ^@ NM_001042492.2(NF1):c.5510_5518delACTCTATCC (p.Asp1837_Pro1840delinsAla) http://identifiers.org/clinvar/234210 ^@ NM_001042492.2(NF1):c.5525A>G (p.His1842Arg) http://identifiers.org/clinvar/230807 ^@ NM_001042492.2(NF1):c.5649C>T (p.Thr1883=) http://identifiers.org/clinvar/234010 ^@ NM_007294.3(BRCA1):c.1014A>G (p.Lys338=) http://identifiers.org/clinvar/233860 ^@ NM_032043.2(BRIP1):c.2829C>G (p.Val943=) http://identifiers.org/clinvar/230957 ^@ NM_005359.5(SMAD4):c.1642C>G (p.Pro548Ala) http://identifiers.org/clinvar/230657 ^@ NM_007194.3(CHEK2):c.772A>G (p.Ile258Val) http://identifiers.org/clinvar/234984 ^@ NM_000719.6(CACNA1C):c.3679G>A (p.Val1227Ile) http://identifiers.org/clinvar/235035 ^@ NM_000257.3(MYH7):c.794C>A (p.Thr265Asn) http://identifiers.org/clinvar/235085 ^@ NM_023110.2(FGFR1):c.1454G>T (p.Gly485Val) http://identifiers.org/clinvar/236345 ^@ NC_000002.10:g.51033960_51299436del265477 http://identifiers.org/clinvar/239446 ^@ NM_003001.3(SDHC):c.119G>A (p.Arg40Gln) http://identifiers.org/clinvar/238203 ^@ NM_001001430.2(TNNT2):c.563T>C (p.Ile188Thr) http://identifiers.org/clinvar/239143 ^@ NM_002354.2(EPCAM):c.859-?_*415+?dup http://identifiers.org/clinvar/238842 ^@ NM_001267550.2(TTN):c.75359C>A (p.Thr25120Lys) http://identifiers.org/clinvar/238792 ^@ NM_001267550.2(TTN):c.50430C>T (p.Asn16810=) http://identifiers.org/clinvar/238742 ^@ NM_001267550.2(TTN):c.32780A>G (p.Lys10927Arg) http://identifiers.org/clinvar/237753 ^@ NM_000384.2(APOB):c.9221A>G (p.Tyr3074Cys) http://identifiers.org/clinvar/241986 ^@ NM_152383.4(DIS3L2):c.795C>T (p.Tyr265=) http://identifiers.org/clinvar/241936 ^@ NM_145038.4(DRC1):c.1720_1734delAAGGCGAGCATGGAG (p.Lys574_Glu578del) http://identifiers.org/clinvar/239846 ^@ NM_004304.4(ALK):c.4836G>A (p.Lys1612=) http://identifiers.org/clinvar/239796 ^@ NM_004304.4(ALK):c.1648-10G>A http://identifiers.org/clinvar/240197 ^@ NM_005633.3(SOS1):c.3322G>A (p.Asp1108Asn) http://identifiers.org/clinvar/237402 ^@ NM_000251.2(MSH2):c.714T>C (p.Tyr238=) http://identifiers.org/clinvar/237151 ^@ NM_000179.2(MSH6):c.2107A>G (p.Met703Val) http://identifiers.org/clinvar/237202 ^@ NM_000179.2(MSH6):c.3930_3970dup41 (p.Glu1324Glyfs) http://identifiers.org/clinvar/241736 ^@ NM_033084.4(FANCD2):c.2555C>G (p.Pro852Arg) http://identifiers.org/clinvar/238103 ^@ NM_000551.3(VHL):c.181C>G (p.Pro61Ala) http://identifiers.org/clinvar/237352 ^@ NM_000249.3(MLH1):c.961_962dupAG (p.Ser321Argfs) http://identifiers.org/clinvar/237302 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTAA http://identifiers.org/clinvar/240046 ^@ NM_004656.3(BAP1):c.1344G>A (p.Leu448=) http://identifiers.org/clinvar/239596 ^@ NM_003924.3(PHOX2B):c.832G>A (p.Gly278Ser) http://identifiers.org/clinvar/240297 ^@ NM_006206.4(PDGFRA):c.1203T>C (p.Ala401=) http://identifiers.org/clinvar/237252 ^@ NM_000222.2(KIT):c.200C>G (p.Thr67Ser) http://identifiers.org/clinvar/242236 ^@ NM_198253.2(TERT):c.3065A>T (p.His1022Leu) http://identifiers.org/clinvar/239093 ^@ NM_001999.3(FBN2):c.8124C>T (p.Tyr2708=) http://identifiers.org/clinvar/239646 ^@ NM_004168.3(SDHA):c.1423T>C (p.Cys475Arg) http://identifiers.org/clinvar/237853 ^@ NM_000492.3(CFTR):c.-288G>C http://identifiers.org/clinvar/238942 ^@ NM_001277115.1(DNAH11):c.9402C>G (p.Ala3134=) http://identifiers.org/clinvar/238892 ^@ NM_001277115.1(DNAH11):c.11967+5G>A http://identifiers.org/clinvar/237903 ^@ NM_000535.6(PMS2):c.2275+8A>G http://identifiers.org/clinvar/262785 ^@ NM_153717.2(EVC):c.939+4C>T http://identifiers.org/clinvar/259896 ^@ NM_006005.3(WFS1):c.1320C>T (p.Thr440=) http://identifiers.org/clinvar/261985 ^@ NM_031889.2(ENAM):c.2288G>A (p.Arg763Gln) http://identifiers.org/clinvar/258056 ^@ NM_001369.2(DNAH5):c.7065T>C (p.Asp2355=) http://identifiers.org/clinvar/258006 ^@ NM_001369.2(DNAH5):c.192+19C>T http://identifiers.org/clinvar/260046 ^@ NM_006846.3(SPINK5):c.1389A>G (p.Gly463=) http://identifiers.org/clinvar/257056 ^@ NM_001017995.2(SH3PXD2B):c.105C>T (p.Ser35=) http://identifiers.org/clinvar/263035 ^@ NM_182925.4(FLT4):c.2168-7C>G http://identifiers.org/clinvar/259245 ^@ NM_004168.3(SDHA):c.1908+15C>T http://identifiers.org/clinvar/258156 ^@ NM_001491.2(GCNT2):c.1012+15C>G http://identifiers.org/clinvar/262185 ^@ NM_033071.3(SYNE1):c.22932+33C>T http://identifiers.org/clinvar/262685 ^@ NM_152732.4(RSPH9):c.327C>T (p.Tyr109=) http://identifiers.org/clinvar/262385 ^@ NM_138694.3(PKHD1):c.11507-21A>G http://identifiers.org/clinvar/258356 ^@ NM_001851.4(COL9A1):c.2113-19G>A http://identifiers.org/clinvar/259345 ^@ NM_004370.5(COL12A1):c.7299G>T (p.Thr2433=) http://identifiers.org/clinvar/257906 ^@ NM_001277115.1(DNAH11):c.5359T>C (p.Leu1787=) http://identifiers.org/clinvar/257856 ^@ NM_001277115.1(DNAH11):c.11718G>C (p.Ala3906=) http://identifiers.org/clinvar/255417 ^@ NM_000168.5(GLI3):c.1242+25C>T http://identifiers.org/clinvar/258995 ^@ NM_003235.4(TG):c.478+15G>A http://identifiers.org/clinvar/256856 ^@ NM_001003722.1(GLE1):c.1242+30G>T http://identifiers.org/clinvar/260146 ^@ NM_007171.3(POMT1):c.2070-20C>T http://identifiers.org/clinvar/262435 ^@ NM_139025.4(ADAMTS13):c.2508T>C (p.Asp836=) http://identifiers.org/clinvar/255067 ^@ NM_000093.4(COL5A1):c.2646+27C>T http://identifiers.org/clinvar/262535 ^@ NM_144966.5(FREM1):c.2408C>A (p.Ser803Tyr) http://identifiers.org/clinvar/260196 ^@ NM_012144.3(DNAI1):c.1064-7T>C http://identifiers.org/clinvar/255317 ^@ NM_000141.4(FGFR2):c.2301+15C>T http://identifiers.org/clinvar/255167 ^@ NM_000124.3(ERCC6):c.4065T>G (p.Asp1355Glu) http://identifiers.org/clinvar/257406 ^@ NM_001083116.1(PRF1):c.726C>T (p.Cys242=) http://identifiers.org/clinvar/260246 ^@ NM_012330.3(KAT6B):c.4495G>A (p.Val1499Ile) http://identifiers.org/clinvar/259946 ^@ NM_006204.3(PDE6C):c.2503G>A (p.Gly835Arg) http://identifiers.org/clinvar/260796 ^@ NM_016952.4(CDON):c.3526G>A (p.Val1176Ile) http://identifiers.org/clinvar/262735 ^@ NM_153676.3(USH1C):c.37-47G>T http://identifiers.org/clinvar/262985 ^@ NM_181507.1(HPS5):c.2440+36C>T http://identifiers.org/clinvar/259545 ^@ NM_004813.2(PEX16):c.359+20A>G http://identifiers.org/clinvar/259746 ^@ NM_005343.3(HRAS):c.171T>C (p.Asp57=) http://identifiers.org/clinvar/258206 ^@ NM_001844.4(COL2A1):c.1221C>T (p.Ser407=) http://identifiers.org/clinvar/261835 ^@ NM_025114.3(CEP290):c.2368-36T>G http://identifiers.org/clinvar/258256 ^@ NM_001845.5(COL4A1):c.4640+16G>A http://identifiers.org/clinvar/254767 ^@ NM_000053.3(ATP7B):c.3366A>G (p.Ala1122=) http://identifiers.org/clinvar/257106 ^@ NM_001024858.2(SPTB):c.300+7T>C http://identifiers.org/clinvar/260296 ^@ NM_013382.5(POMT2):c.1654-41G>C http://identifiers.org/clinvar/254867 ^@ NM_000070.2(CAPN3):c.2263+14A>G http://identifiers.org/clinvar/334932 ^@ NM_152383.4(DIS3L2):c.674C>T (p.Ser225Leu) http://identifiers.org/clinvar/332991 ^@ NM_201548.4(CERKL):c.*694dupA http://identifiers.org/clinvar/332691 ^@ NM_133378.4(TTN):c.96860C>A (p.Ser32287Tyr) http://identifiers.org/clinvar/332741 ^@ NM_133378.4(TTN):c.79625C>T (p.Ala26542Val) http://identifiers.org/clinvar/333091 ^@ NM_000090.3(COL3A1):c.*923A>T http://identifiers.org/clinvar/335182 ^@ NM_004544.3(NDUFA10):c.*1212T>C http://identifiers.org/clinvar/335282 ^@ NM_004321.7(KIF1A):c.204G>T (p.Ala68=) http://identifiers.org/clinvar/335382 ^@ NM_000182.4(HADHA):c.932G>C (p.Gly311Ala) http://identifiers.org/clinvar/333291 ^@ NM_007315.3(STAT1):c.274-4C>G http://identifiers.org/clinvar/335432 ^@ NM_194248.2(OTOF):c.5440A>G (p.Met1814Val) http://identifiers.org/clinvar/333041 ^@ NM_002500.4(NEUROD1):c.-65C>T http://identifiers.org/clinvar/333341 ^@ NM_001006657.1(WDR35):c.*1681A>G http://identifiers.org/clinvar/333191 ^@ NM_000534.4(PMS1):c.-257C>G http://identifiers.org/clinvar/336399 ^@ NM_002354.2(EPCAM):c.-247G>C http://identifiers.org/clinvar/336449 ^@ NM_000233.3(LHCGR):c.*383C>A http://identifiers.org/clinvar/336549 ^@ NM_001135659.2(NRXN1):c.1880-13C>G http://identifiers.org/clinvar/333791 ^@ NM_014929.3(FASTKD2):c.-178T>C http://identifiers.org/clinvar/336649 ^@ NM_001114636.1(FANCL):c.*447_*450delTGTT http://identifiers.org/clinvar/333841 ^@ NM_014929.3(FASTKD2):c.*2335_*2336dupCA http://identifiers.org/clinvar/336799 ^@ NM_002056.3(GFPT1):c.*4826A>C http://identifiers.org/clinvar/336899 ^@ NM_001002755.2(NFU1):c.-147_-146delCG http://identifiers.org/clinvar/333641 ^@ NM_001204.6(BMPR2):c.708C>T (p.Asn236=) http://identifiers.org/clinvar/333741 ^@ NM_012092.3(ICOS):c.*58T>G http://identifiers.org/clinvar/333891 ^@ NM_015040.3(PIKFYVE):c.1715G>A (p.Arg572Gln) http://identifiers.org/clinvar/336499 ^@ NM_001135659.2(NRXN1):c.*2835T>C http://identifiers.org/clinvar/336849 ^@ NM_002056.3(GFPT1):c.*1425C>T http://identifiers.org/clinvar/336949 ^@ NM_003494.3(DYSF):c.1191C>T (p.Ala397=) http://identifiers.org/clinvar/334632 ^@ NM_003590.4(CUL3):c.693A>C (p.Ser231=) http://identifiers.org/clinvar/337099 ^@ NM_004082.4(DCTN1):c.-72C>G http://identifiers.org/clinvar/334732 ^@ NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) http://identifiers.org/clinvar/337199 ^@ NM_000821.6(GGCX):c.*3517T>C http://identifiers.org/clinvar/334582 ^@ NM_003590.4(CUL3):c.*3148A>G http://identifiers.org/clinvar/337399 ^@ NM_004836.6(EIF2AK3):c.3291A>G (p.Ser1097=) http://identifiers.org/clinvar/337449 ^@ NM_017849.3(TMEM127):c.*3206_*3208delGTT http://identifiers.org/clinvar/335082 ^@ NM_000463.2(UGT1A1):c.1322T>C (p.Met441Thr) http://identifiers.org/clinvar/335132 ^@ NM_004369.3(COL6A3):c.3190C>T (p.Arg1064Trp) http://identifiers.org/clinvar/334782 ^@ NM_000091.4(COL4A3):c.4153+10T>C http://identifiers.org/clinvar/334882 ^@ NM_025243.3(SLC19A3):c.390G>T (p.Val130=) http://identifiers.org/clinvar/335232 ^@ NM_004321.7(KIF1A):c.*1883T>C http://identifiers.org/clinvar/335332 ^@ NM_152783.4(D2HGDH):c.*254G>A http://identifiers.org/clinvar/343868 ^@ NM_004733.3(SLC33A1):c.*509G>T http://identifiers.org/clinvar/335482 ^@ NM_000221.2(KHK):c.145G>A (p.Val49Ile) http://identifiers.org/clinvar/344018 ^@ NM_001041.3(SI):c.4077T>C (p.His1359=) http://identifiers.org/clinvar/344068 ^@ NM_001041.3(SI):c.635+3A>G http://identifiers.org/clinvar/354434 ^@ NM_004385.4(VCAN):c.6201A>G (p.Glu2067=) http://identifiers.org/clinvar/357324 ^@ NM_003221.3(TFAP2B):c.*1981T>A http://identifiers.org/clinvar/350658 ^@ NM_032446.2(MEGF10):c.2150A>G (p.Asn717Ser) http://identifiers.org/clinvar/357474 ^@ NM_052872.3(IL17F):c.-48T>C http://identifiers.org/clinvar/350758 ^@ NM_001999.3(FBN2):c.8552A>G (p.Asn2851Ser) http://identifiers.org/clinvar/354634 ^@ NM_000439.4(PCSK1):c.*265T>C http://identifiers.org/clinvar/357574 ^@ NM_001723.5(DST):c.4400G>A (p.Arg1467His) http://identifiers.org/clinvar/350808 ^@ NM_003060.3(SLC22A5):c.-118G>A http://identifiers.org/clinvar/354884 ^@ NM_007214.4(SEC63):c.*358T>C http://identifiers.org/clinvar/354934 ^@ NM_014028.3(OSTM1):c.*2547G>A http://identifiers.org/clinvar/354984 ^@ NM_014028.3(OSTM1):c.784-10C>G http://identifiers.org/clinvar/358363 ^@ NM_198999.2(SLC26A5):c.-172C>G http://identifiers.org/clinvar/358413 ^@ NM_005045.3(RELN):c.1555G>T (p.Val519Phe) http://identifiers.org/clinvar/358463 ^@ NM_006348.3(COG5):c.1304A>G (p.Gln435Arg) http://identifiers.org/clinvar/351347 ^@ NM_001018077.1(NR3C1):c.*937C>A http://identifiers.org/clinvar/351397 ^@ NM_054027.4(ANKH):c.*5898G>A http://identifiers.org/clinvar/351647 ^@ NM_024577.3(SH3TC2):c.*15680T>C http://identifiers.org/clinvar/351547 ^@ NM_006846.3(SPINK5):c.*59C>T http://identifiers.org/clinvar/355874 ^@ NM_033071.3(SYNE1):c.13511G>T (p.Cys4504Phe) http://identifiers.org/clinvar/351897 ^@ NM_024577.3(SH3TC2):c.3600G>A (p.Leu1200=) http://identifiers.org/clinvar/351697 ^@ NM_024577.3(SH3TC2):c.*11055T>C http://identifiers.org/clinvar/351747 ^@ NM_024577.3(SH3TC2):c.*8748G>A http://identifiers.org/clinvar/351997 ^@ NM_000440.2(PDE6A):c.647A>G (p.Asn216Ser) http://identifiers.org/clinvar/352045 ^@ NM_000112.3(SLC26A2):c.*974C>G http://identifiers.org/clinvar/352095 ^@ NM_000112.3(SLC26A2):c.*4982A>G http://identifiers.org/clinvar/356474 ^@ NM_003322.5(TULP1):c.249G>A (p.Ala83=) http://identifiers.org/clinvar/352145 ^@ NM_005211.3(CSF1R):c.1701G>A (p.Thr567=) http://identifiers.org/clinvar/356574 ^@ NM_001145717.1(PNPLA1):c.1166T>C (p.Leu389Pro) http://identifiers.org/clinvar/352595 ^@ NM_000806.5(GABRA1):c.-10C>G http://identifiers.org/clinvar/352395 ^@ NM_000337.5(SGCD):c.*4813T>C http://identifiers.org/clinvar/356774 ^@ NM_000322.4(PRPH2):c.*132C>T http://identifiers.org/clinvar/352495 ^@ NM_005546.3(ITK):c.*1398G>A http://identifiers.org/clinvar/356974 ^@ NM_006502.2(POLH):c.*3051_*3052delCA http://identifiers.org/clinvar/352895 ^@ NM_022455.4(NSD1):c.*220_*223delCCAA http://identifiers.org/clinvar/352795 ^@ NM_001017995.2(SH3PXD2B):c.*323C>T http://identifiers.org/clinvar/352845 ^@ NM_002449.4(MSX2):c.*306G>T http://identifiers.org/clinvar/352945 ^@ NM_022455.4(NSD1):c.*4610_*4611delCC http://identifiers.org/clinvar/357374 ^@ NM_138694.3(PKHD1):c.*2201G>A http://identifiers.org/clinvar/357424 ^@ NM_138694.3(PKHD1):c.8494G>T (p.Ala2832Ser) http://identifiers.org/clinvar/353634 ^@ NM_002310.5(LIFR):c.143-11_143-10delGT http://identifiers.org/clinvar/353734 ^@ NM_002203.3(ITGA2):c.327G>A (p.Met109Ile) http://identifiers.org/clinvar/361722 ^@ NM_014846.3(WASHC5):c.1408+7A>G http://identifiers.org/clinvar/353834 ^@ NM_002203.3(ITGA2):c.*2723G>C http://identifiers.org/clinvar/361772 ^@ NM_004519.3(KCNQ3):c.*6461G>A http://identifiers.org/clinvar/306808 ^@ NM_024312.4(GNPTAB):c.2028G>A (p.Pro676=) http://identifiers.org/clinvar/364411 ^@ NM_005502.3(ABCA1):c.3726G>A (p.Thr1242=) http://identifiers.org/clinvar/306908 ^@ NM_000618.4(IGF1):c.107C>T (p.Ala36Val) http://identifiers.org/clinvar/364361 ^@ NM_005502.3(ABCA1):c.*693C>T http://identifiers.org/clinvar/307108 ^@ NM_000431.3(MVK):c.*468C>T http://identifiers.org/clinvar/364661 ^@ NM_000031.5(ALAD):c.-155dupC http://identifiers.org/clinvar/364711 ^@ NM_015404.3(WHRN):c.-608_-601delGCGGAGGC http://identifiers.org/clinvar/300614 ^@ NM_004273.4(CHST3):c.*1536G>A http://identifiers.org/clinvar/307508 ^@ NM_152269.4(C12orf65):c.*515T>G http://identifiers.org/clinvar/364561 ^@ NM_003640.4(IKBKAP):c.3259G>A (p.Ala1087Thr) http://identifiers.org/clinvar/300814 ^@ NM_014000.2(VCL):c.*1540A>C http://identifiers.org/clinvar/365011 ^@ NM_138361.5(LRSAM1):c.406+15G>T http://identifiers.org/clinvar/364961 ^@ NM_002316.3(LMX1B):c.*2984C>T http://identifiers.org/clinvar/365211 ^@ NM_000113.2(TOR1A):c.*1002C>T http://identifiers.org/clinvar/364861 ^@ NM_000550.2(TYRP1):c.*123C>A http://identifiers.org/clinvar/365311 ^@ NM_015046.5(SETX):c.*1700G>T http://identifiers.org/clinvar/308597 ^@ NM_017641.3(KIF21A):c.-147C>A http://identifiers.org/clinvar/365561 ^@ NM_139025.4(ADAMTS13):c.3153C>T (p.Asp1051=) http://identifiers.org/clinvar/365611 ^@ NM_014694.3(ADAMTSL2):c.2613G>A (p.Val871=) http://identifiers.org/clinvar/365261 ^@ NM_054012.3(ASS1):c.970+12T>A http://identifiers.org/clinvar/308847 ^@ NM_001017535.1(VDR):c.*1420T>C http://identifiers.org/clinvar/309097 ^@ NM_021044.3(DHH):c.*87G>T http://identifiers.org/clinvar/309397 ^@ NM_014191.3(SCN8A):c.*2361T>C http://identifiers.org/clinvar/302014 ^@ NM_001080463.1(DYNC2H1):c.1506T>C (p.Ile502=) http://identifiers.org/clinvar/309547 ^@ NM_000424.3(KRT5):c.*323T>C http://identifiers.org/clinvar/302064 ^@ NM_001080463.1(DYNC2H1):c.7782A>G (p.Pro2594=) http://identifiers.org/clinvar/309647 ^@ NM_006121.3(KRT1):c.1031G>A (p.Ser344Asn) http://identifiers.org/clinvar/309697 ^@ NM_002272.3(KRT4):c.463-9T>C http://identifiers.org/clinvar/309797 ^@ NM_002206.2(ITGA7):c.670+14C>T http://identifiers.org/clinvar/309847 ^@ NM_000456.2(SUOX):c.*187G>T http://identifiers.org/clinvar/309997 ^@ NM_000785.3(CYP27B1):c.1057C>G (p.Pro353Ala) http://identifiers.org/clinvar/310147 ^@ NM_001038.5(SCNN1A):c.840C>T (p.Phe280=) http://identifiers.org/clinvar/306608 ^@ NM_018979.3(WNK1):c.5555C>G (p.Ala1852Gly) http://identifiers.org/clinvar/367051 ^@ NM_004170.5(SLC1A1):c.1087G>A (p.Ala363Thr) http://identifiers.org/clinvar/314290 ^@ NM_000428.2(LTBP2):c.2853G>A (p.Ser951=) http://identifiers.org/clinvar/322015 ^@ NM_002615.6(SERPINF1):c.1119C>G (p.Pro373=) http://identifiers.org/clinvar/314590 ^@ NM_004863.3(SPTLC2):c.*4431G>T http://identifiers.org/clinvar/340779 ^@ NM_017929.5(PEX26):c.*977C>T http://identifiers.org/clinvar/340829 ^@ NM_004782.3(SNAP29):c.6A>G (p.Ser2=) http://identifiers.org/clinvar/313001 ^@ NM_004086.2(COCH):c.630-9T>C http://identifiers.org/clinvar/340979 ^@ NM_022081.5(HPS4):c.*1229_*1237delCGCGCGCGCinsTGT http://identifiers.org/clinvar/341029 ^@ NM_022081.5(HPS4):c.-296T>C http://identifiers.org/clinvar/341479 ^@ NM_002473.5(MYH9):c.*312C>T http://identifiers.org/clinvar/315290 ^@ NM_139057.3(ADAMTS17):c.1445T>C (p.Met482Thr) http://identifiers.org/clinvar/313451 ^@ NM_005982.3(SIX1):c.*765_*766delTT http://identifiers.org/clinvar/313501 ^@ NM_182914.2(SYNE2):c.3550G>A (p.Val1184Met) http://identifiers.org/clinvar/315440 ^@ NM_022807.4(SNRPN):c.-378C>T http://identifiers.org/clinvar/315490 ^@ NM_002420.5(TRPM1):c.4494T>A (p.His1498Gln) http://identifiers.org/clinvar/315590 ^@ NM_133647.1(SLC12A6):c.*1211T>C http://identifiers.org/clinvar/314140 ^@ NM_031427.3(DNAL1):c.*6870T>C http://identifiers.org/clinvar/368030 ^@ NM_001018113.2(FANCB):c.869T>C (p.Met290Thr) http://identifiers.org/clinvar/314240 ^@ NM_006432.3(NPC2):c.-68G>T http://identifiers.org/clinvar/314690 ^@ NM_000369.2(TSHR):c.157A>C (p.Ser53Arg) http://identifiers.org/clinvar/314740 ^@ NM_000153.3(GALC):c.*591G>A http://identifiers.org/clinvar/314840 ^@ NM_018319.3(TDP1):c.1747A>G (p.Ser583Gly) http://identifiers.org/clinvar/316879 ^@ NM_005902.3(SMAD3):c.*579delG http://identifiers.org/clinvar/317430 ^@ NM_018668.4(VPS33B):c.403+2T>A http://identifiers.org/clinvar/325123 ^@ NM_001005731.2(ITGB4):c.513T>C (p.Phe171=) http://identifiers.org/clinvar/325273 ^@ NM_199242.2(UNC13D):c.273G>A (p.Val91=) http://identifiers.org/clinvar/315140 ^@ NM_139057.3(ADAMTS17):c.*2511A>G http://identifiers.org/clinvar/315840 ^@ NM_144508.4(KNL1):c.-17-15G>A http://identifiers.org/clinvar/325623 ^@ NM_000546.5(TP53):c.*826G>A http://identifiers.org/clinvar/317780 ^@ NM_004862.3(LITAF):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/315940 ^@ NM_138477.2(CDAN1):c.2008-8C>T http://identifiers.org/clinvar/317830 ^@ NM_005236.2(ERCC4):c.*484G>T http://identifiers.org/clinvar/315990 ^@ NM_173500.3(TTBK2):c.2133C>A (p.Phe711Leu) http://identifiers.org/clinvar/316040 ^@ NM_201631.3(TGM5):c.1689G>A (p.Ala563=) http://identifiers.org/clinvar/317880 ^@ NM_005236.2(ERCC4):c.*3953delT http://identifiers.org/clinvar/325774 ^@ NM_000152.4(GAA):c.131G>T (p.Gly44Val) http://identifiers.org/clinvar/373690 ^@ NM_024334.2(TMEM43):c.705+5G>T http://identifiers.org/clinvar/373790 ^@ NM_002290.4(LAMA4):c.1062T>A (p.Asn354Lys) http://identifiers.org/clinvar/373640 ^@ NM_007347.4(AP4E1):c.-3G>T http://identifiers.org/clinvar/373490 ^@ NM_000138.4(FBN1):c.3789C>G (p.Cys1263Trp) http://identifiers.org/clinvar/373590 ^@ NM_004380.2(CREBBP):c.1100G>T (p.Cys367Phe) http://identifiers.org/clinvar/373540 ^@ NM_001127464.2(ZNF469):c.8995C>T (p.Arg2999Cys) http://identifiers.org/clinvar/373740 ^@ NM_001943.4(DSG2):c.202A>G (p.Asn68Asp) http://identifiers.org/clinvar/373840 ^@ NG_005905.2:g.151367_156192del4826 http://identifiers.org/clinvar/373890 ^@ NM_007294.3:c.(671_4096)ins(300) http://identifiers.org/clinvar/373993 ^@ NM_006516.2(SLC2A1):c.470dupG (p.Thr158Hisfs) http://identifiers.org/clinvar/374093 ^@ NM_000465.3(BARD1):c.1463A>G (p.Asn488Ser) http://identifiers.org/clinvar/374193 ^@ NM_138694.3(PKHD1):c.2716-3C>G http://identifiers.org/clinvar/374043 ^@ NM_213599.2(ANO5):c.2029+2dupT http://identifiers.org/clinvar/373943 ^@ NM_004380.2(CREBBP):c.6244C>T (p.Gln2082Ter) http://identifiers.org/clinvar/374143 ^@ NM_001849.3(COL6A2):c.736-2A>G http://identifiers.org/clinvar/374247 ^@ NM_021120.3(DLG3):c.1469G>A (p.Ser490Asn) http://identifiers.org/clinvar/374317 ^@ NM_020732.3(ARID1B):c.3689+1G>C http://identifiers.org/clinvar/374382 ^@ NM_130791.3(WWOX):c.548G>T (p.Cys183Phe) http://identifiers.org/clinvar/374435 ^@ NM_000159.3(GCDH):c.764C>T (p.Ser255Leu) http://identifiers.org/clinvar/374485 ^@ NM_004984.2(KIF5A):c.750C>T (p.Asp250=) http://identifiers.org/clinvar/374535 ^@ NM_152564.4(VPS13B):c.1639A>G (p.Thr547Ala) http://identifiers.org/clinvar/374585 ^@ NM_001267550.2(TTN):c.29127C>G (p.Val9709=) http://identifiers.org/clinvar/374635 ^@ NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) http://identifiers.org/clinvar/374685 ^@ NM_198578.3(LRRK2):c.1250C>T (p.Ala417Val) http://identifiers.org/clinvar/374735 ^@ NM_025137.3(SPG11):c.3221G>C (p.Ser1074Thr) http://identifiers.org/clinvar/374786 ^@ NM_000833.4(GRIN2A):c.1681_1683delATG (p.Met561del) http://identifiers.org/clinvar/391519 ^@ NM_001256850.1(TTN):c.15670+8T>C http://identifiers.org/clinvar/379844 ^@ NM_000388.3(CASR):c.514A>G (p.Arg172Gly) http://identifiers.org/clinvar/385781 ^@ NM_000249.3(MLH1):c.791-20G>C http://identifiers.org/clinvar/391719 ^@ NM_000094.3(COL7A1):c.8266C>T (p.Pro2756Ser) http://identifiers.org/clinvar/378943 ^@ NM_000038.5(APC):c.1842A>G (p.Ala614=) http://identifiers.org/clinvar/384881 ^@ NM_024582.4(FAT4):c.7131A>G (p.Ala2377=) http://identifiers.org/clinvar/379693 ^@ NM_006859.3(LIAS):c.954+1G>A http://identifiers.org/clinvar/382238 ^@ NM_001999.3(FBN2):c.4230C>T (p.Asp1410=) http://identifiers.org/clinvar/393258 ^@ NM_033071.3(SYNE1):c.3515G>A (p.Arg1172His) http://identifiers.org/clinvar/380785 ^@ NM_018341.2(ERMARD):c.1505G>A (p.Arg502His) http://identifiers.org/clinvar/378540 ^@ NM_198056.2(SCN5A):c.1256A>C (p.Gln419Pro) http://identifiers.org/clinvar/391119 ^@ NM_006514.3(SCN10A):c.1949T>A (p.Met650Lys) http://identifiers.org/clinvar/383379 ^@ NM_003280.2(TNNC1):c.183C>T (p.Ile61=) http://identifiers.org/clinvar/392758 ^@ NM_005670.3(EPM2A):c.776G>A (p.Gly259Glu) http://identifiers.org/clinvar/381286 ^@ NM_020745.3(AARS2):c.1866+12C>T http://identifiers.org/clinvar/379293 ^@ NM_000238.3(KCNH2):c.3027C>G (p.Tyr1009Ter) http://identifiers.org/clinvar/390969 ^@ NM_001851.4(COL9A1):c.1905C>T (p.Ser635=) http://identifiers.org/clinvar/381686 ^@ NM_000441.1(SLC26A4):c.1544+5G>A http://identifiers.org/clinvar/391569 ^@ NM_000722.3(CACNA2D1):c.659-15T>A http://identifiers.org/clinvar/382037 ^@ NM_005045.3(RELN):c.10181+11C>T http://identifiers.org/clinvar/377494 ^@ NM_000038.5(APC):c.8061A>G (p.Ser2687=) http://identifiers.org/clinvar/390869 ^@ NM_000445.4(PLEC):c.6120G>A (p.Arg2040=) http://identifiers.org/clinvar/382338 ^@ NM_001182.4(ALDH7A1):c.651-19T>A http://identifiers.org/clinvar/387270 ^@ NM_001101.3(ACTB):c.-7+15C>G http://identifiers.org/clinvar/392608 ^@ NM_001999.3(FBN2):c.2358C>T (p.Asn786=) http://identifiers.org/clinvar/378641 ^@ NM_006846.3(SPINK5):c.1302+16C>T http://identifiers.org/clinvar/377644 ^@ NM_018249.5(CDK5RAP2):c.3361A>G (p.Thr1121Ala) http://identifiers.org/clinvar/387470 ^@ NM_000290.3(PGAM2):c.288A>G (p.Thr96=) http://identifiers.org/clinvar/385631 ^@ NM_001130438.2(SPTAN1):c.6213C>G (p.Ser2071Arg) http://identifiers.org/clinvar/391669 ^@ NM_002454.2(MTRR):c.446C>T (p.Ala149Val) http://identifiers.org/clinvar/386870 ^@ NM_006059.3(LAMC3):c.4477+9G>T http://identifiers.org/clinvar/387220 ^@ NM_000445.4(PLEC):c.3043G>C (p.Glu1015Gln) http://identifiers.org/clinvar/383891 ^@ NM_004408.3(DNM1):c.332C>G (p.Thr111Ser) http://identifiers.org/clinvar/381336 ^@ NM_001130438.2(SPTAN1):c.1677C>T (p.His559=) http://identifiers.org/clinvar/377794 ^@ NM_203447.3(DOCK8):c.528+7C>A http://identifiers.org/clinvar/382539 ^@ NM_000031.5(ALAD):c.269G>A (p.Arg90Gln) http://identifiers.org/clinvar/377844 ^@ NM_000136.2(FANCC):c.687-15A>C http://identifiers.org/clinvar/378691 ^@ NM_003165.3(STXBP1):c.1302G>A (p.Pro434=) http://identifiers.org/clinvar/391319 ^@ NM_020822.2(KCNT1):c.335-16G>A http://identifiers.org/clinvar/393108 ^@ NM_020822.2(KCNT1):c.3317G>C (p.Arg1106Pro) http://identifiers.org/clinvar/133133 ^@ NM_000540.2(RYR1):c.467G>A (p.Arg156Lys) http://identifiers.org/clinvar/133183 ^@ NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) http://identifiers.org/clinvar/133233 ^@ NM_000540.2(RYR1):c.8692+28T>G http://identifiers.org/clinvar/133312 ^@ NM_206933.2(USH2A):c.3407G>A (p.Ser1136Asn) http://identifiers.org/clinvar/133375 ^@ NM_001321049.1(PMS1):c.496G>A (p.Gly166Ser) http://identifiers.org/clinvar/133425 ^@ NM_000548.4(TSC2):c.336+101delG http://identifiers.org/clinvar/133475 ^@ NM_004304.4(ALK):c.4573A>G (p.Lys1525Glu) http://identifiers.org/clinvar/133526 ^@ NM_000038.5(APC):c.3052G>A (p.Asp1018Asn) http://identifiers.org/clinvar/133576 ^@ NM_015338.5(ASXL1):c.1388G>A (p.Ser463Asn) http://identifiers.org/clinvar/133626 ^@ NM_000051.3(ATM):c.5945A>T (p.Gln1982Leu) http://identifiers.org/clinvar/133676 ^@ NM_001706.4(BCL6):c.1477G>A (p.Ala493Thr) http://identifiers.org/clinvar/133726 ^@ NM_000059.3(BRCA2):c.1742C>T (p.Ser581Phe) http://identifiers.org/clinvar/133780 ^@ NM_001211.5(BUB1B):c.1046A= (p.Gln349=) http://identifiers.org/clinvar/133830 ^@ NM_001321786.1(CBLB):c.1277C>T (p.Thr426Met) http://identifiers.org/clinvar/133880 ^@ NM_000077.4(CDKN2A):c.458-491C>T http://identifiers.org/clinvar/133930 ^@ NM_004380.2(CREBBP):c.383C>G (p.Ser128Cys) http://identifiers.org/clinvar/133980 ^@ NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) http://identifiers.org/clinvar/134030 ^@ NM_005228.4(EGFR):c.3467A>C (p.His1156Pro) http://identifiers.org/clinvar/134082 ^@ NM_001005862.2(ERBB2):c.3418C>G (p.Pro1140Ala) http://identifiers.org/clinvar/134132 ^@ NM_005236.2(ERCC4):c.79C>T (p.Leu27Phe) http://identifiers.org/clinvar/134182 ^@ NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) http://identifiers.org/clinvar/134232 ^@ NM_017709.3(FAM46C):c.46G>A (p.Val16Met) http://identifiers.org/clinvar/134283 ^@ NM_000135.2(FANCA):c.4226G>A (p.Arg1409Gln) http://identifiers.org/clinvar/134333 ^@ NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) http://identifiers.org/clinvar/134384 ^@ NM_033632.3(FBXW7):c.458C>G (p.Pro153Arg) http://identifiers.org/clinvar/134434 ^@ NM_004119.2(FLT3):c.1669G>A (p.Val557Ile) http://identifiers.org/clinvar/134930 ^@ NM_017617.4(NOTCH1):c.3836G>A (p.Arg1279His) http://identifiers.org/clinvar/134980 ^@ NM_024408.3(NOTCH2):c.5314G>A (p.Glu1772Lys) http://identifiers.org/clinvar/135030 ^@ NM_006206.4(PDGFRA):c.1307C>T (p.Thr436Ile) http://identifiers.org/clinvar/135081 ^@ NM_001198.3(PRDM1):c.1100C>T (p.Ser367Phe) http://identifiers.org/clinvar/135132 ^@ NM_004260.3(RECQL4):c.1726G>A (p.Val576Met) http://identifiers.org/clinvar/135183 ^@ NM_020630.4(RET):c.304G>A (p.Asp102Asn) http://identifiers.org/clinvar/135960 ^@ NM_001127500.2(MET):c.1412G>A (p.Gly471Glu) http://identifiers.org/clinvar/136012 ^@ NM_001166110.1(PALLD):c.814G>C (p.Glu272Gln) http://identifiers.org/clinvar/136062 ^@ NM_004360.4(CDH1):c.1865A>G (p.Asn622Ser) http://identifiers.org/clinvar/136113 ^@ NM_020975.4(RET):c.2833G>A (p.Val945Met) http://identifiers.org/clinvar/136163 ^@ NM_058216.2(RAD51C):c.97_98delCA (p.Gln33Aspfs) http://identifiers.org/clinvar/136224 ^@ NM_020745.3(AARS2):c.750-5G>A http://identifiers.org/clinvar/136275 ^@ NM_174917.4(ACSF3):c.354T>C (p.Ser118=) http://identifiers.org/clinvar/136325 ^@ NM_004208.3(AIFM1):c.1833T>C (p.His611=) http://identifiers.org/clinvar/136376 ^@ NM_001182.4(ALDH7A1):c.1287T>C (p.Phe429=) http://identifiers.org/clinvar/187017 ^@ NM_002878.3(RAD51D):c.332G>A (p.Ser111Asn) http://identifiers.org/clinvar/187167 ^@ NM_007294.3(BRCA1):c.4435G>C (p.Val1479Leu) http://identifiers.org/clinvar/184066 ^@ NM_007294.3(BRCA1):c.3075A>C (p.Thr1025=) http://identifiers.org/clinvar/186767 ^@ NM_032043.2(BRIP1):c.2748C>T (p.Tyr916=) http://identifiers.org/clinvar/186617 ^@ NM_032043.2(BRIP1):c.638A>G (p.His213Arg) http://identifiers.org/clinvar/187217 ^@ NM_005359.5(SMAD4):c.153dupA (p.Asp52Argfs) http://identifiers.org/clinvar/184016 ^@ NM_000455.4(STK11):c.621C>T (p.Asp207=) http://identifiers.org/clinvar/188244 ^@ NM_000038.5(APC):c.1262G>A (p.Trp421Ter) http://identifiers.org/clinvar/188089 ^@ NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) http://identifiers.org/clinvar/188141 ^@ NM_002047.3(GARS):c.855C>G (p.Phe285Leu) http://identifiers.org/clinvar/188191 ^@ NM_000535.6(PMS2):c.433C>A (p.Gln145Lys) http://identifiers.org/clinvar/188297 ^@ NM_017780.3(CHD7):c.1488dupA (p.Pro497Thrfs) http://identifiers.org/clinvar/188350 ^@ NM_000136.2(FANCC):c.626G>A (p.Arg209His) http://identifiers.org/clinvar/188509 ^@ NM_000249.3(MLH1):c.791-1G>A http://identifiers.org/clinvar/188459 ^@ NM_004415.3(DSP):c.1352G>A (p.Arg451His) http://identifiers.org/clinvar/188559 ^@ NM_000256.3(MYBPC3):c.1897+47G>A http://identifiers.org/clinvar/188659 ^@ NM_004572.3(PKP2):c.2253G>A (p.Ser751=) http://identifiers.org/clinvar/188609 ^@ NM_000257.3(MYH7):c.1579-27_1579-26delCA http://identifiers.org/clinvar/188709 ^@ NM_001018005.1(TPM1):c.*5_*8delCTTT http://identifiers.org/clinvar/188407 ^@ NM_007294.3(BRCA1):c.984_988delTAATG (p.Cys328Terfs) http://identifiers.org/clinvar/189111 ^@ NM_014625.3(NPHS2):c.451+2T>A http://identifiers.org/clinvar/189161 ^@ NM_000030.2(AGXT):c.976delG (p.Val326Tyrfs) http://identifiers.org/clinvar/189061 ^@ NM_000187.3(HGD):c.652delG (p.Ala218Profs) http://identifiers.org/clinvar/188960 ^@ NM_138694.3(PKHD1):c.711_714delAATG (p.Met238Serfs) http://identifiers.org/clinvar/188759 ^@ NM_000441.1(SLC26A4):c.1547dupC (p.Ser517Phefs) http://identifiers.org/clinvar/188910 ^@ NM_000466.2(PEX1):c.782_783delAA (p.Gln261Argfs) http://identifiers.org/clinvar/188859 ^@ NM_000053.3(ATP7B):c.3646G>A (p.Val1216Met) http://identifiers.org/clinvar/188809 ^@ NM_000152.4(GAA):c.569G>A (p.Arg190His) http://identifiers.org/clinvar/189011 ^@ NM_000159.3(GCDH):c.1205G>A (p.Arg402Gln) http://identifiers.org/clinvar/189227 ^@ NM_001081.3(CUBN):c.6928_6934delGAGGTTA (p.Glu2310Cysfs) http://identifiers.org/clinvar/242617 ^@ NM_006785.3(MALT1):c.1019-2A>G http://identifiers.org/clinvar/189279 ^@ NM_014795.3(ZEB2):c.73+1delG http://identifiers.org/clinvar/189338 ^@ NM_022168.3(IFIH1):c.2465G>A (p.Arg822Gln) http://identifiers.org/clinvar/189491 ^@ NM_000314.6(PTEN):c.-923C>T http://identifiers.org/clinvar/189429 ^@ NM_000314.6(PTEN):c.21_22delGA (p.Glu7Aspfs) http://identifiers.org/clinvar/189651 ^@ NM_004992.3(MECP2):c.1115_1326del212 (p.His372Argfs) http://identifiers.org/clinvar/189551 ^@ NM_003159.2(CDKL5):c.1008_1029del22 (p.Ser337Argfs) http://identifiers.org/clinvar/189601 ^@ NM_003159.2(CDKL5):c.1266C>A (p.Asp422Glu) http://identifiers.org/clinvar/190170 ^@ NM_000124.3(ERCC6):c.3904C>T (p.Gln1302Ter) http://identifiers.org/clinvar/228516 ^@ NM_000739.2(CHRM2):c.52_54delTAT (p.Tyr18del) http://identifiers.org/clinvar/228666 ^@ NM_000501.3(ELN):c.685+1_685+5dupGTGAG http://identifiers.org/clinvar/228566 ^@ NM_015404.3(WHRN):c.943G>C (p.Ala315Pro) http://identifiers.org/clinvar/228616 ^@ NM_203447.3(DOCK8):c.3487C>T (p.Leu1163Phe) http://identifiers.org/clinvar/228366 ^@ NC_000011.10:g.(?_47332566)_(47334010_?)del http://identifiers.org/clinvar/228766 ^@ NM_000218.2(KCNQ1):c.1926C>G (p.Cys642Trp) http://identifiers.org/clinvar/228866 ^@ NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr) http://identifiers.org/clinvar/227815 ^@ NM_173591.3(OTOGL):c.2429C>T (p.Ser810Leu) http://identifiers.org/clinvar/229116 ^@ NM_173591.3(OTOGL):c.3236A>G (p.Asp1079Gly) http://identifiers.org/clinvar/228916 ^@ NM_000257.3(MYH7):c.5302_5303delGAinsAT (p.Glu1768Met) http://identifiers.org/clinvar/227966 ^@ NM_153700.2(STRC):c.3555G>A (p.Leu1185=) http://identifiers.org/clinvar/228966 ^@ NM_016239.3(MYO15A):c.6957-13C>A http://identifiers.org/clinvar/226494 ^@ NM_017950.3(CCDC40):c.504G>A (p.Pro168=) http://identifiers.org/clinvar/229016 ^@ NM_003803.3(MYOM1):c.1466A>G (p.Tyr489Cys) http://identifiers.org/clinvar/228816 ^@ NM_144612.6(LOXHD1):c.2288C>T (p.Ala763Val) http://identifiers.org/clinvar/228266 ^@ NM_022081.5(HPS4):c.1132C>T (p.Gln378Ter) http://identifiers.org/clinvar/226544 ^@ NM_000395.2(CSF2RB):c.1153-13T>C http://identifiers.org/clinvar/229266 ^@ NM_006941.3(SOX10):c.211T>G (p.Cys71Gly) http://identifiers.org/clinvar/234794 ^@ NM_000179.2(MSH6):c.3753_3756dupATTA (p.Val1253Ilefs) http://identifiers.org/clinvar/234374 ^@ NM_000179.2(MSH6):c.*17G>A http://identifiers.org/clinvar/234544 ^@ NM_182896.2(ARL13B):c.839T>C (p.Met280Thr) http://identifiers.org/clinvar/234845 ^@ NM_001999.3(FBN2):c.8058C>A (p.Phe2686Leu) http://identifiers.org/clinvar/234265 ^@ NM_000051.3(ATM):c.3257G>A (p.Arg1086His) http://identifiers.org/clinvar/234493 ^@ NM_000431.3(MVK):c.227-18T>C http://identifiers.org/clinvar/234694 ^@ NM_000834.3(GRIN2B):c.2662A>G (p.Thr888Ala) http://identifiers.org/clinvar/234744 ^@ NM_000059.3(BRCA2):c.3629A>T (p.Asp1210Val) http://identifiers.org/clinvar/234895 ^@ NM_000059.3(BRCA2):c.9501G>C (p.Glu3167Asp) http://identifiers.org/clinvar/234442 ^@ NM_000257.3(MYH7):c.4036C>G (p.Gln1346Glu) http://identifiers.org/clinvar/234594 ^@ NM_004360.4(CDH1):c.337A>T (p.Lys113Ter) http://identifiers.org/clinvar/234644 ^@ NM_004360.4(CDH1):c.2589C>A (p.Asn863Lys) http://identifiers.org/clinvar/234321 ^@ NM_000214.2(JAG1):c.1485_1486delCT (p.Cys496Phefs) http://identifiers.org/clinvar/230757 ^@ NM_000465.3(BARD1):c.1056G>A (p.Val352=) http://identifiers.org/clinvar/234060 ^@ NM_000251.2(MSH2):c.2706A>C (p.Glu902Asp) http://identifiers.org/clinvar/233960 ^@ NM_000249.3(MLH1):c.30G>C (p.Arg10=) http://identifiers.org/clinvar/265539 ^@ NM_005859.4(PURA):c.458G>C (p.Arg153Pro) http://identifiers.org/clinvar/265590 ^@ NM_015339.4(ADNP):c.1106_1108delTACinsCTGT (p.Leu369Serfs) http://identifiers.org/clinvar/265640 ^@ NM_000284.3(PDHA1):c.760-1G>T http://identifiers.org/clinvar/267281 ^@ NM_033028.4:r.118_373del http://identifiers.org/clinvar/266800 ^@ NM_000059.3(BRCA2):c.428dupC (p.Val144Cysfs) http://identifiers.org/clinvar/266900 ^@ NM_000059.3(BRCA2):c.583delT (p.Ser195Glnfs) http://identifiers.org/clinvar/267000 ^@ NM_000059.3(BRCA2):c.729dupT (p.Asp244Terfs) http://identifiers.org/clinvar/266650 ^@ NM_000059.3(BRCA2):c.1671_1674delAATT (p.Asp559Metfs) http://identifiers.org/clinvar/266700 ^@ NM_000059.3(BRCA2):c.2471delT (p.Leu824Terfs) http://identifiers.org/clinvar/266750 ^@ NM_000059.3(BRCA2):c.3409_3421delTTGCAGAAGAGTA (p.Leu1137Hisfs) http://identifiers.org/clinvar/266850 ^@ NM_000059.3(BRCA2):c.5119dupA (p.Thr1707Asnfs) http://identifiers.org/clinvar/266950 ^@ NM_000059.3(BRCA2):c.6478C>T (p.Gln2160Ter) http://identifiers.org/clinvar/267050 ^@ NM_000059.3(BRCA2):c.8021dupA (p.Ile2675Aspfs) http://identifiers.org/clinvar/267100 ^@ NM_000059.3(BRCA2):c.8645_8646delAA (p.Lys2882Thrfs) http://identifiers.org/clinvar/267150 ^@ NM_000059.3(BRCA2):c.9291_9306del16 (p.Cys3097Terfs) http://identifiers.org/clinvar/266550 ^@ NM_007294.3(BRCA1):c.5361_5362delTG (p.Cys1787Trpfs) http://identifiers.org/clinvar/266500 ^@ NM_007294.3(BRCA1):c.4877delA (p.Asn1626Metfs) http://identifiers.org/clinvar/266450 ^@ NM_007294.3(BRCA1):c.4129delA (p.Ser1377Alafs) http://identifiers.org/clinvar/266400 ^@ NM_007294.3(BRCA1):c.372delC (p.Ile125Serfs) http://identifiers.org/clinvar/266600 ^@ NM_007294.3(BRCA1):c.98_105delAACCTGTC (p.Glu33Valfs) http://identifiers.org/clinvar/267219 ^@ NM_007294.3(BRCA1):c.5116G>C (p.Gly1706Arg) http://identifiers.org/clinvar/267352 ^@ NM_001733.4(C1R):c.902G>C (p.Arg301Pro) http://identifiers.org/clinvar/267421 ^@ NM_017780.3(CHD7):c.2959C>T (p.Arg987Ter) http://identifiers.org/clinvar/267657 ^@ NM_000059.3(BRCA2):c.682-?_1909+?del http://identifiers.org/clinvar/267707 ^@ NM_000059.3(BRCA2):c.8755-375_9256+681del http://identifiers.org/clinvar/267557 ^@ NM_007294.3(BRCA1):c.4676-?_5193+?del http://identifiers.org/clinvar/267507 ^@ NM_007294.3(BRCA1):c.1393_1394ins10 (p.?) http://identifiers.org/clinvar/267607 ^@ NM_007294.3(BRCA1):c.547+3A>T http://identifiers.org/clinvar/267786 ^@ NM_006087.3(TUBB4A):c.1061G>A (p.C354Y) http://identifiers.org/clinvar/267837 ^@ 46;XY;t(7;13)(p15.3;q14.1)dn http://identifiers.org/clinvar/267887 ^@ 46;XY;t(1;2)(p34.2;q35)dn http://identifiers.org/clinvar/267937 ^@ 46;XY;t(5;15)(q11.2;q24) http://identifiers.org/clinvar/267987 ^@ 46;XY;inv(6)(p11.2q25.3) http://identifiers.org/clinvar/291445 ^@ NM_001918.3(DBT):c.*594A>G http://identifiers.org/clinvar/291495 ^@ NM_001854.3(COL11A1):c.4805A>G (p.Asn1602Ser) http://identifiers.org/clinvar/291545 ^@ NM_001854.3(COL11A1):c.652-7_652-6dupTT http://identifiers.org/clinvar/291595 ^@ NM_015074.3(KIF1B):c.*281T>C http://identifiers.org/clinvar/292387 ^@ NM_014874.3(MFN2):c.*413C>T http://identifiers.org/clinvar/292437 ^@ NM_005266.6(GJA5):c.*1259C>T http://identifiers.org/clinvar/292487 ^@ NM_005850.4(SF3B4):c.-116C>T http://identifiers.org/clinvar/292837 ^@ NM_005572.3(LMNA):c.936+12C>T http://identifiers.org/clinvar/292937 ^@ NM_003126.2(SPTA1):c.7068A>C (p.Glu2356Asp) http://identifiers.org/clinvar/292737 ^@ NM_001111.4(ADAR):c.*812C>T http://identifiers.org/clinvar/292287 ^@ NM_000302.3(PLOD1):c.614G>A (p.Arg205His) http://identifiers.org/clinvar/292337 ^@ NM_005518.3(HMGCS2):c.595G>A (p.Val199Ile) http://identifiers.org/clinvar/293437 ^@ NM_004431.4(EPHA2):c.1048C>A (p.Pro350Thr) http://identifiers.org/clinvar/293087 ^@ NM_002241.4(KCNJ10):c.*2459T>G http://identifiers.org/clinvar/292587 ^@ NM_000396.3(CTSK):c.169A>G (p.Ile57Val) http://identifiers.org/clinvar/292537 ^@ NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=) http://identifiers.org/clinvar/292687 ^@ NM_152263.3(TPM3):c.*482C>T http://identifiers.org/clinvar/292637 ^@ NM_152263.3(TPM3):c.*4940C>G http://identifiers.org/clinvar/293537 ^@ NM_006996.2(SLC19A2):c.-103G>A http://identifiers.org/clinvar/292787 ^@ NM_001111.4(ADAR):c.-48A>G http://identifiers.org/clinvar/292987 ^@ NM_003126.2(SPTA1):c.4287G>T (p.Leu1429=) http://identifiers.org/clinvar/293037 ^@ NM_003126.2(SPTA1):c.1554T>C (p.His518=) http://identifiers.org/clinvar/292887 ^@ NM_001012331.1(NTRK1):c.1504C>A (p.Arg502=) http://identifiers.org/clinvar/293137 ^@ NM_000702.3(ATP1A2):c.*72G>A http://identifiers.org/clinvar/293187 ^@ NM_000702.3(ATP1A2):c.*2070C>T http://identifiers.org/clinvar/293237 ^@ NM_000309.3(PPOX):c.-190G>C http://identifiers.org/clinvar/293287 ^@ NM_004550.4(NDUFS2):c.*108_*109dupAT http://identifiers.org/clinvar/293337 ^@ NM_003001.3(SDHC):c.*968A>G http://identifiers.org/clinvar/293387 ^@ NM_006182.2(DDR2):c.*188delT http://identifiers.org/clinvar/293487 ^@ NM_005149.2(TBX19):c.*267A>G http://identifiers.org/clinvar/294476 ^@ NM_000186.3(CFH):c.-79A>G http://identifiers.org/clinvar/294826 ^@ NM_001005337.2(PKP1):c.1747C>T (p.Leu583=) http://identifiers.org/clinvar/295126 ^@ NM_000228.2(LAMB3):c.867T>C (p.Asn289=) http://identifiers.org/clinvar/295076 ^@ NM_005216.4(DDOST):c.1187G>A (p.Arg396Gln) http://identifiers.org/clinvar/344168 ^@ NM_000340.1(SLC2A2):c.496+6_496+7dupTC http://identifiers.org/clinvar/344318 ^@ NM_020166.4(MCCC1):c.-100G>C http://identifiers.org/clinvar/344618 ^@ NM_000461.4(THRB):c.*1104T>C http://identifiers.org/clinvar/343818 ^@ NM_174878.2(CLRN1):c.-71A>G http://identifiers.org/clinvar/336599 ^@ NM_001135659.2(NRXN1):c.-1461_-1452dupCTCTCTCTCT http://identifiers.org/clinvar/336699 ^@ NM_002618.3(PEX13):c.*2147A>G http://identifiers.org/clinvar/336749 ^@ NM_015910.5(WDPCP):c.*590_*591delAG http://identifiers.org/clinvar/344918 ^@ NM_001106.3(ACVR2B):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/344268 ^@ NM_181426.1(CCDC39):c.1363-13delT http://identifiers.org/clinvar/344368 ^@ NM_000460.3(THPO):c.*59G>A http://identifiers.org/clinvar/336999 ^@ NM_015120.4(ALMS1):c.-107G>A http://identifiers.org/clinvar/344568 ^@ NM_000461.4(THRB):c.*3905_*3910delAAAAAA http://identifiers.org/clinvar/345607 ^@ NM_002222.5(ITPR1):c.1106+5C>G http://identifiers.org/clinvar/345557 ^@ NM_147196.2(TMIE):c.*829G>T http://identifiers.org/clinvar/345657 ^@ NM_015175.2(NBEAL2):c.3728T>C (p.Leu1243Pro) http://identifiers.org/clinvar/337049 ^@ NM_080916.2(DGUOK):c.664C>T (p.Leu222=) http://identifiers.org/clinvar/337249 ^@ NM_000821.6(GGCX):c.*270T>G http://identifiers.org/clinvar/345757 ^@ NM_002222.5(ITPR1):c.6619+8C>G http://identifiers.org/clinvar/344868 ^@ NM_006371.4(CRTAP):c.*3464A>C http://identifiers.org/clinvar/337349 ^@ NM_022912.2(REEP1):c.*2640T>C http://identifiers.org/clinvar/337149 ^@ NM_003849.3(SUCLG1):c.*163T>C http://identifiers.org/clinvar/345857 ^@ NM_000094.3(COL7A1):c.3753T>C (p.Cys1251=) http://identifiers.org/clinvar/346007 ^@ NM_002292.3(LAMB2):c.916-4A>G http://identifiers.org/clinvar/337299 ^@ NM_198843.2(SFTPB):c.1174G>A (p.Asp392Asn) http://identifiers.org/clinvar/346107 ^@ NM_004656.3(BAP1):c.*697G>A http://identifiers.org/clinvar/346357 ^@ NM_001457.3(FLNB):c.6531C>T (p.Thr2177=) http://identifiers.org/clinvar/346507 ^@ NM_000248.3(MITF):c.*235T>C http://identifiers.org/clinvar/346657 ^@ NM_032682.5(FOXP1):c.-297-14T>C http://identifiers.org/clinvar/346707 ^@ NM_002942.4(ROBO2):c.3554+13delA http://identifiers.org/clinvar/346757 ^@ NM_002942.4(ROBO2):c.*2865T>C http://identifiers.org/clinvar/346907 ^@ NM_182896.2(ARL13B):c.-40T>G http://identifiers.org/clinvar/342679 ^@ NM_020754.3(ARHGAP31):c.*105T>C http://identifiers.org/clinvar/345957 ^@ NM_199069.1(NDUFAF3):c.-249C>T http://identifiers.org/clinvar/346057 ^@ NM_144499.2(GNAT1):c.*128T>A http://identifiers.org/clinvar/347407 ^@ NM_016599.4(MYOZ2):c.712G>A (p.Gly238Arg) http://identifiers.org/clinvar/346157 ^@ NM_052859.3(RFT1):c.*2214C>T http://identifiers.org/clinvar/347457 ^@ NM_018699.3(PRDM5):c.-61G>C http://identifiers.org/clinvar/346307 ^@ NM_001457.3(FLNB):c.865G>A (p.Val289Met) http://identifiers.org/clinvar/346457 ^@ NM_198859.3(PRICKLE2):c.*1310C>T http://identifiers.org/clinvar/346607 ^@ NM_032682.5(FOXP1):c.*1209G>A http://identifiers.org/clinvar/343668 ^@ NM_031850.3(AGTR1):c.275T>C (p.Met92Thr) http://identifiers.org/clinvar/343718 ^@ NM_032383.4(HPS3):c.*133_*134dupCA http://identifiers.org/clinvar/346857 ^@ NM_033337.2(CAV3):c.*741G>A http://identifiers.org/clinvar/343618 ^@ NM_001184.3(ATR):c.1784C>T (p.Ser595Leu) http://identifiers.org/clinvar/346957 ^@ NM_000097.5(CPOX):c.*633A>C http://identifiers.org/clinvar/343968 ^@ NM_020800.2(IFT80):c.1326C>T (p.Leu442=) http://identifiers.org/clinvar/354034 ^@ NM_174889.4(NDUFAF2):c.128-14C>G http://identifiers.org/clinvar/353684 ^@ NM_000163.4(GHR):c.1025G>T (p.Trp342Leu) http://identifiers.org/clinvar/354184 ^@ NM_003719.3(PDE8B):c.*436C>T http://identifiers.org/clinvar/353934 ^@ NM_001104631.1(PDE4D):c.*3165_*3166delCA http://identifiers.org/clinvar/353984 ^@ NM_001104631.1(PDE4D):c.2427G>A (p.Thr809=) http://identifiers.org/clinvar/362372 ^@ NM_177924.4(ASAH1):c.*124T>A http://identifiers.org/clinvar/354334 ^@ NM_000046.3(ARSB):c.-906C>G http://identifiers.org/clinvar/358663 ^@ NM_014491.3(FOXP2):c.*3235T>C http://identifiers.org/clinvar/362522 ^@ NM_005144.4(HR):c.1276C>T (p.Pro426Ser) http://identifiers.org/clinvar/354484 ^@ NM_004385.4(VCAN):c.*905A>G http://identifiers.org/clinvar/362772 ^@ NM_000553.4(WRN):c.-683G>T http://identifiers.org/clinvar/354584 ^@ NM_002397.4(MEF2C):c.861G>A (p.Ser287=) http://identifiers.org/clinvar/363072 ^@ NM_006749.4(SLC20A2):c.1438G>A (p.Ala480Thr) http://identifiers.org/clinvar/354834 ^@ NM_007214.4(SEC63):c.*3031dupT http://identifiers.org/clinvar/354784 ^@ NM_001242957.2(MAK):c.1815T>C (p.Thr605=) http://identifiers.org/clinvar/363422 ^@ NM_017780.3(CHD7):c.-466_-461delAGCGGC http://identifiers.org/clinvar/364261 ^@ NM_001701.3(BAAT):c.*1136A>G http://identifiers.org/clinvar/364461 ^@ NM_005502.3(ABCA1):c.360C>T (p.Thr120=) http://identifiers.org/clinvar/364511 ^@ NM_001079802.1(FKTN):c.*2984C>T http://identifiers.org/clinvar/364611 ^@ NM_005592.3(MUSK):c.1927+9dupA http://identifiers.org/clinvar/364761 ^@ NM_018249.5(CDK5RAP2):c.2792G>A (p.Arg931Lys) http://identifiers.org/clinvar/364811 ^@ NM_000177.4(GSN):c.1378G>A (p.Val460Met) http://identifiers.org/clinvar/356324 ^@ NM_006929.4(SKIV2L):c.1151C>T (p.Thr384Ile) http://identifiers.org/clinvar/356374 ^@ NM_080680.2(COL11A2):c.*706G>T http://identifiers.org/clinvar/356624 ^@ NM_005943.5(MOCS1):c.*1530G>A http://identifiers.org/clinvar/365411 ^@ NM_000368.4(TSC1):c.*3830C>T http://identifiers.org/clinvar/365461 ^@ NM_000368.4(TSC1):c.*2109C>T http://identifiers.org/clinvar/356724 ^@ NM_002098.5(GUCA1B):c.*451A>G http://identifiers.org/clinvar/356524 ^@ NM_182548.3(LHFPL5):c.*512_*513delAC http://identifiers.org/clinvar/356874 ^@ NM_203290.3(POLR1C):c.443G>A (p.Arg148Gln) http://identifiers.org/clinvar/356924 ^@ NM_006502.2(POLH):c.*698C>T http://identifiers.org/clinvar/356824 ^@ NM_014780.4(CUL7):c.4346C>T (p.Thr1449Met) http://identifiers.org/clinvar/357024 ^@ NM_020745.3(AARS2):c.*1710G>T http://identifiers.org/clinvar/357224 ^@ NM_012120.2(CD2AP):c.*2118T>A http://identifiers.org/clinvar/357074 ^@ NM_020745.3(AARS2):c.985C>T (p.Arg329Cys) http://identifiers.org/clinvar/303103 ^@ NM_006918.4(SC5D):c.*4400T>C http://identifiers.org/clinvar/367151 ^@ NM_004972.3(JAK2):c.*1288_*1289insGT http://identifiers.org/clinvar/303153 ^@ NM_018400.3(SCN3B):c.*2429C>T http://identifiers.org/clinvar/303203 ^@ NM_018400.3(SCN3B):c.-332G>A http://identifiers.org/clinvar/367251 ^@ NM_138691.2(TMC1):c.-124T>C http://identifiers.org/clinvar/303253 ^@ NM_022370.3(ROBO3):c.2504T>C (p.Leu835Pro) http://identifiers.org/clinvar/303403 ^@ NM_016952.4(CDON):c.*2705C>T http://identifiers.org/clinvar/367530 ^@ NM_006415.3(SPTLC1):c.*1093G>A http://identifiers.org/clinvar/303753 ^@ NM_000352.4(ABCC8):c.4119+15C>T http://identifiers.org/clinvar/303803 ^@ NM_005709.3(USH1C):c.1365C>G (p.Leu455=) http://identifiers.org/clinvar/303903 ^@ NM_181507.1(HPS5):c.-197C>T http://identifiers.org/clinvar/367330 ^@ NM_017662.4(TRPM6):c.263C>T (p.Thr88Met) http://identifiers.org/clinvar/304053 ^@ NM_000207.2(INS):c.188-3C>A http://identifiers.org/clinvar/304103 ^@ NM_213599.2(ANO5):c.1801-9T>C http://identifiers.org/clinvar/367580 ^@ NM_000136.2(FANCC):c.*1879C>T http://identifiers.org/clinvar/364211 ^@ NM_033087.3(ALG2):c.304C>T (p.Leu102=) http://identifiers.org/clinvar/313051 ^@ NM_025152.2(NUBPL):c.*1121dupT http://identifiers.org/clinvar/313151 ^@ NM_006194.3(PAX9):c.-656C>G http://identifiers.org/clinvar/313401 ^@ NM_000161.2(GCH1):c.-72C>T http://identifiers.org/clinvar/314340 ^@ NM_014239.3(EIF2B2):c.*56C>T http://identifiers.org/clinvar/314390 ^@ NM_001040108.1(MLH3):c.961A>G (p.Met321Val) http://identifiers.org/clinvar/305544 ^@ NM_006946.2(SPTBN2):c.5804G>A (p.Arg1935His) http://identifiers.org/clinvar/314640 ^@ NM_004863.3(SPTLC2):c.*1457C>T http://identifiers.org/clinvar/305694 ^@ NM_145200.3(CABP4):c.*1879_*1884dupCACACA http://identifiers.org/clinvar/305744 ^@ NM_007103.3(NDUFV1):c.366G>A (p.Pro122=) http://identifiers.org/clinvar/314790 ^@ NM_018418.4(SPATA7):c.1601G>A (p.Arg534Gln) http://identifiers.org/clinvar/314940 ^@ NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) http://identifiers.org/clinvar/305844 ^@ NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) http://identifiers.org/clinvar/314990 ^@ NM_004239.4(TRIP11):c.-331C>G http://identifiers.org/clinvar/306358 ^@ NM_012193.3(FZD4):c.*3700A>G http://identifiers.org/clinvar/306408 ^@ NM_012193.3(FZD4):c.304T>A (p.Tyr102Asn) http://identifiers.org/clinvar/315690 ^@ NM_005159.4(ACTC1):c.*518A>G http://identifiers.org/clinvar/306508 ^@ NM_016156.5(MTMR2):c.*1826C>A http://identifiers.org/clinvar/309597 ^@ NM_000423.2(KRT2):c.1719C>T (p.Tyr573=) http://identifiers.org/clinvar/315190 ^@ NM_139057.3(ADAMTS17):c.*1289T>G http://identifiers.org/clinvar/310047 ^@ NM_000552.4(VWF):c.6908C>T (p.Thr2303Met) http://identifiers.org/clinvar/310097 ^@ NM_001065.3(TNFRSF1A):c.*372_*376dupGTTTT http://identifiers.org/clinvar/330002 ^@ NM_144687.3(NLRP12):c.3024C>T (p.Asn1008=) http://identifiers.org/clinvar/310247 ^@ NM_014319.4(LEMD3):c.*655C>T http://identifiers.org/clinvar/310297 ^@ NM_021150.3(GRIP1):c.*85_*87dupGAT http://identifiers.org/clinvar/330202 ^@ NM_000363.4(TNNI3):c.-103C>T http://identifiers.org/clinvar/330302 ^@ NM_000064.3(C3):c.2700C>G (p.Ile900Met) http://identifiers.org/clinvar/330552 ^@ NM_006949.3(STXBP2):c.914A>G (p.Glu305Gly) http://identifiers.org/clinvar/306708 ^@ NM_018979.3(WNK1):c.*1934_*1935delAG http://identifiers.org/clinvar/319421 ^@ NM_022162.2(NOD2):c.-53C>T http://identifiers.org/clinvar/319471 ^@ NM_022162.2(NOD2):c.2704C>A (p.Gln902Lys) http://identifiers.org/clinvar/319922 ^@ NM_000339.2(SLC12A3):c.3014C>A (p.Thr1005Asn) http://identifiers.org/clinvar/320072 ^@ NM_001297.4(CNGB1):c.2844C>T (p.Leu948=) http://identifiers.org/clinvar/312951 ^@ NM_001099274.1(TINF2):c.710G>A (p.Gly237Asp) http://identifiers.org/clinvar/320222 ^@ NM_001793.5(CDH3):c.-11T>C http://identifiers.org/clinvar/338839 ^@ NM_000782.4(CYP24A1):c.73C>G (p.Pro25Ala) http://identifiers.org/clinvar/320372 ^@ NM_015386.2(COG4):c.1481+12T>C http://identifiers.org/clinvar/313251 ^@ NM_002408.3(MGAT2):c.-143G>C http://identifiers.org/clinvar/320422 ^@ NM_001361.4(DHODH):c.492G>T (p.Gln164His) http://identifiers.org/clinvar/313351 ^@ NM_001202.5(BMP4):c.370+12C>T http://identifiers.org/clinvar/339289 ^@ NM_001853.3(COL9A3):c.1324-15G>A http://identifiers.org/clinvar/320872 ^@ NM_001127464.2(ZNF469):c.1776A>G (p.Pro592=) http://identifiers.org/clinvar/340089 ^@ NM_000071.2(CBS):c.373C>T (p.Arg125Trp) http://identifiers.org/clinvar/321715 ^@ NM_002470.3(MYH3):c.5390G>A (p.Arg1797His) http://identifiers.org/clinvar/326424 ^@ NM_177986.4(DSG4):c.628A>T (p.Ile210Phe) http://identifiers.org/clinvar/342229 ^@ NM_000487.5(ARSA):c.*293C>T http://identifiers.org/clinvar/367730 ^@ NM_080632.2(UPF3B):c.*40G>A http://identifiers.org/clinvar/328513 ^@ NM_000215.3(JAK3):c.1653A>G (p.Thr551=) http://identifiers.org/clinvar/367930 ^@ NM_004840.2(ARHGEF6):c.*847C>T http://identifiers.org/clinvar/368080 ^@ NM_000054.4(AVPR2):c.*129C>T http://identifiers.org/clinvar/327113 ^@ NM_005359.5(SMAD4):c.*81T>G http://identifiers.org/clinvar/327163 ^@ NM_005359.5(SMAD4):c.*4378T>G http://identifiers.org/clinvar/368130 ^@ NM_171998.3(RAB39B):c.*1935G>A http://identifiers.org/clinvar/328963 ^@ NM_032753.3(RAX2):c.*88C>T http://identifiers.org/clinvar/368180 ^@ NM_014271.3(IL1RAPL1):c.-405T>A http://identifiers.org/clinvar/327263 ^@ NM_001083962.1(TCF4):c.*3058C>T http://identifiers.org/clinvar/327363 ^@ NM_000140.3(FECH):c.*3170T>C http://identifiers.org/clinvar/327463 ^@ NM_005603.4(ATP8B1):c.*212T>C http://identifiers.org/clinvar/327513 ^@ NM_013435.2(RAX):c.*1372delG http://identifiers.org/clinvar/327763 ^@ NM_005786.5(TSHZ1):c.-501A>G http://identifiers.org/clinvar/329952 ^@ NM_024729.3(MYH14):c.5838-10C>T http://identifiers.org/clinvar/328113 ^@ NM_000527.4(LDLR):c.*1916A>G http://identifiers.org/clinvar/330152 ^@ NM_206828.3(NLRP7):c.*183G>A http://identifiers.org/clinvar/328313 ^@ NM_006563.4(KLF1):c.690C>T (p.Ala230=) http://identifiers.org/clinvar/330352 ^@ NM_000208.3(INSR):c.*4349C>T http://identifiers.org/clinvar/330402 ^@ NM_000208.3(INSR):c.*1592G>A http://identifiers.org/clinvar/330452 ^@ NM_000208.3(INSR):c.2682+9C>G http://identifiers.org/clinvar/330502 ^@ NM_020533.2(MCOLN1):c.1359+11C>A http://identifiers.org/clinvar/328613 ^@ NM_000095.2(COMP):c.1668+13T>G http://identifiers.org/clinvar/329013 ^@ NM_000540.2(RYR1):c.3773G>T (p.Arg1258Leu) http://identifiers.org/clinvar/338989 ^@ NM_004738.4(VAPB):c.*4265G>A http://identifiers.org/clinvar/330052 ^@ NM_144687.3(NLRP12):c.-140T>A http://identifiers.org/clinvar/330102 ^@ NM_015629.3(PRPF31):c.855+14G>A http://identifiers.org/clinvar/339539 ^@ NM_015192.3(PLCB1):c.*1681T>C http://identifiers.org/clinvar/339639 ^@ NM_000484.3(APP):c.1299+9T>C http://identifiers.org/clinvar/339789 ^@ NM_000219.5(KCNE1):c.-561C>T http://identifiers.org/clinvar/339839 ^@ NM_001754.4(RUNX1):c.*2005A>G http://identifiers.org/clinvar/339939 ^@ NM_000411.6(HLCS):c.*1594A>G http://identifiers.org/clinvar/340039 ^@ NM_020639.2(RIPK4):c.-44C>G http://identifiers.org/clinvar/340139 ^@ NM_000211.4(ITGB2):c.2145C>T (p.Ile715=) http://identifiers.org/clinvar/338338 ^@ NM_015474.3(SAMHD1):c.*60A>G http://identifiers.org/clinvar/338388 ^@ NM_005461.4(MAFB):c.*1226C>T http://identifiers.org/clinvar/338789 ^@ NM_000782.4(CYP24A1):c.*1256_*1257insAT http://identifiers.org/clinvar/340879 ^@ NM_004782.3(SNAP29):c.*2261G>A http://identifiers.org/clinvar/340929 ^@ NM_016327.2(UPB1):c.142T>C (p.Ser48Pro) http://identifiers.org/clinvar/338939 ^@ NM_004738.4(VAPB):c.*602G>A http://identifiers.org/clinvar/341079 ^@ NM_000268.3(NF2):c.*136G>A http://identifiers.org/clinvar/339089 ^@ NM_001001433.2(STX16):c.*2057G>A http://identifiers.org/clinvar/341129 ^@ NM_000268.3(NF2):c.*2021dupT http://identifiers.org/clinvar/339189 ^@ NM_017671.4(FERMT1):c.*1004G>A http://identifiers.org/clinvar/341179 ^@ NM_000355.3(TCN2):c.-244C>T http://identifiers.org/clinvar/339239 ^@ NM_017671.4(FERMT1):c.-105C>G http://identifiers.org/clinvar/341279 ^@ NM_000343.3(SLC5A1):c.*795G>T http://identifiers.org/clinvar/339339 ^@ NM_172107.3(KCNQ2):c.-83G>T http://identifiers.org/clinvar/341329 ^@ NM_000362.4(TIMP3):c.-898T>A http://identifiers.org/clinvar/341429 ^@ NM_004737.5(LARGE1):c.*154C>A http://identifiers.org/clinvar/339489 ^@ NM_012469.3(PRPF6):c.2756T>C (p.Ile919Thr) http://identifiers.org/clinvar/341579 ^@ NM_153609.3(TMPRSS6):c.2139C>T (p.Gly713=) http://identifiers.org/clinvar/341829 ^@ NM_001429.3(EP300):c.6969C>G (p.Pro2323=) http://identifiers.org/clinvar/341879 ^@ NM_052945.3(TNFRSF13C):c.255G>C (p.Leu85=) http://identifiers.org/clinvar/341979 ^@ NM_006953.3(UPK3A):c.470C>T (p.Ser157Leu) http://identifiers.org/clinvar/342029 ^@ NM_024105.3(ALG12):c.*491G>T http://identifiers.org/clinvar/385931 ^@ NM_018325.4(C9orf72):c.1387A>G (p.Ile463Val) http://identifiers.org/clinvar/385081 ^@ NM_020822.2(KCNT1):c.1337+7G>A http://identifiers.org/clinvar/384831 ^@ NM_001909.4(CTSD):c.510C>T (p.Gly170=) http://identifiers.org/clinvar/383640 ^@ NM_001080449.2(DNA2):c.1983+12A>C http://identifiers.org/clinvar/393058 ^@ NM_021167.4(GATAD1):c.682G>C (p.Glu228Gln) http://identifiers.org/clinvar/379793 ^@ NM_000314.6(PTEN):c.210-9T>C http://identifiers.org/clinvar/382388 ^@ NM_005609.3(PYGM):c.966C>T (p.Pro322=) http://identifiers.org/clinvar/392808 ^@ NM_002860.3(ALDH18A1):c.1110G>A (p.Ala370=) http://identifiers.org/clinvar/383690 ^@ NM_000742.3(CHRNA2):c.1331C>G (p.Ser444Cys) http://identifiers.org/clinvar/390719 ^@ NM_001613.2(ACTA2):c.756C>T (p.Ile252=) http://identifiers.org/clinvar/385431 ^@ NM_001278503.1(STT3A):c.-36+8T>G http://identifiers.org/clinvar/381386 ^@ NM_018249.5(CDK5RAP2):c.4777A>G (p.Ser1593Gly) http://identifiers.org/clinvar/378993 ^@ NM_000051.3(ATM):c.7299G>A (p.Gln2433=) http://identifiers.org/clinvar/386770 ^@ NM_005343.3(HRAS):c.228G>A (p.Glu76=) http://identifiers.org/clinvar/379743 ^@ NM_000890.3(KCNJ5):c.938-11C>T http://identifiers.org/clinvar/384781 ^@ NM_000289.5(PFKM):c.103A>C (p.Arg35=) http://identifiers.org/clinvar/386920 ^@ NM_000920.3(PC):c.904-16G>A http://identifiers.org/clinvar/378591 ^@ NM_024698.5(SLC25A22):c.294-10C>T http://identifiers.org/clinvar/382087 ^@ NM_005609.3(PYGM):c.2112G>A (p.Ala704=) http://identifiers.org/clinvar/379393 ^@ NM_032790.3(ORAI1):c.546C>T (p.Ile182=) http://identifiers.org/clinvar/379493 ^@ NM_018451.4(CENPJ):c.569-4T>C http://identifiers.org/clinvar/382488 ^@ NM_000059.3(BRCA2):c.4716C>G (p.Ala1572=) http://identifiers.org/clinvar/392658 ^@ NM_144966.5(FREM1):c.454C>T (p.Gln152Ter) http://identifiers.org/clinvar/387620 ^@ NM_006231.3(POLE):c.333T>C (p.Gly111=) http://identifiers.org/clinvar/390769 ^@ NM_001134363.2(RBM20):c.2214G>A (p.Pro738=) http://identifiers.org/clinvar/381536 ^@ NM_006009.3(TUBA1A):c.455T>A (p.Leu152Gln) http://identifiers.org/clinvar/378843 ^@ NM_130838.1(UBE3A):c.1212C>T (p.Pro404=) http://identifiers.org/clinvar/382639 ^@ NM_133647.1(SLC12A6):c.318C>T (p.Asp106=) http://identifiers.org/clinvar/391019 ^@ NM_000075.3(CDK4):c.-11T>C http://identifiers.org/clinvar/383279 ^@ NM_001126106.2(SLC7A7):c.966T>C (p.Gly322=) http://identifiers.org/clinvar/379243 ^@ NM_005249.4(FOXG1):c.213G>A (p.Gln71=) http://identifiers.org/clinvar/382288 ^@ NM_001018005.1(TPM1):c.240+4389A>C http://identifiers.org/clinvar/384731 ^@ NM_020778.4(ALPK3):c.2282C>T (p.Thr761Met) http://identifiers.org/clinvar/391369 ^@ NM_032382.4(COG8):c.1580T>G (p.Leu527Ter) http://identifiers.org/clinvar/383791 ^@ NM_021098.2(CACNA1H):c.2071G>A (p.Gly691Ser) http://identifiers.org/clinvar/382589 ^@ NM_001739.1(CA5A):c.645C>T (p.Phe215=) http://identifiers.org/clinvar/381786 ^@ NM_006231.3(POLE):c.4941C>T (p.Phe1647=) http://identifiers.org/clinvar/391069 ^@ NM_006231.3(POLE):c.4006-20A>G http://identifiers.org/clinvar/384681 ^@ NM_020778.4(ALPK3):c.710C>T (p.Ala237Val) http://identifiers.org/clinvar/378793 ^@ NM_000548.4(TSC2):c.5106C>T (p.Ile1702=) http://identifiers.org/clinvar/47446 ^@ NM_001256850.1(TTN):c.80483C>G (p.Ser26828Cys) http://identifiers.org/clinvar/47496 ^@ NM_133378.4(TTN):c.82711G>A (p.Ala27571Thr) http://identifiers.org/clinvar/47646 ^@ NM_133378.4(TTN):c.94452G>T (p.Arg31484=) http://identifiers.org/clinvar/47696 ^@ NM_133378.4(TTN):c.97897G>A (p.Val32633Met) http://identifiers.org/clinvar/47746 ^@ NM_133379.4(TTN):c.12997dupA (p.Ile4333Asnfs) http://identifiers.org/clinvar/47796 ^@ NM_133379.4(TTN):c.16174C>A (p.Pro5392Thr) http://identifiers.org/clinvar/47846 ^@ NM_133378.4(TTN):c.10303+2208G>A http://identifiers.org/clinvar/47896 ^@ NM_144573.3(NEXN):c.1756_1758delAAG (p.Lys586del) http://identifiers.org/clinvar/89 ^@ NM_021828.4(HPSE2):c.457C>T (p.Arg153Ter) http://identifiers.org/clinvar/681 ^@ NM_000147.4(FUCA1):c.1279C>T (p.Gln427Ter) http://identifiers.org/clinvar/853 ^@ NM_080669.5(SLC46A1):c.954C>G (p.Ser318Arg) http://identifiers.org/clinvar/1451 ^@ HMBS, 1-BP DEL, 900T http://identifiers.org/clinvar/1497 ^@ TRIOBP, 1-BP INS, 3225C http://identifiers.org/clinvar/1542 ^@ LPL, IVS1, G-C, +1 http://identifiers.org/clinvar/1588 ^@ NM_001127255.1(NLRP7):c.2738A>G (p.Asn913Ser) http://identifiers.org/clinvar/1637 ^@ NM_000382.2(ALDH3A2):c.809delG (p.Gly270Glufs) http://identifiers.org/clinvar/1682 ^@ NM_005908.3(MANBA):c.1276C>T (p.Gln426Ter) http://identifiers.org/clinvar/1728 ^@ NM_014845.5(FIG4):c.157G>T (p.Asp53Tyr) http://identifiers.org/clinvar/1779 ^@ CYP17A1, 7-BP DUP, EX2 http://identifiers.org/clinvar/1823 ^@ NM_013296.4(GPSM2):c.379C>T (p.Arg127Ter) http://identifiers.org/clinvar/1869 ^@ PDCD10, IVS8AS, G-A, -1 http://identifiers.org/clinvar/1913 ^@ NM_000411.6(HLCS):c.655dupA (p.Ile219Asnfs) http://identifiers.org/clinvar/1959 ^@ NM_000022.3(ADA):c.986C>T (p.Ala329Val) http://identifiers.org/clinvar/2002 ^@ NM_199242.2(UNC13D):c.1208T>C (p.Leu403Pro) http://identifiers.org/clinvar/2048 ^@ NM_152443.2(RDH12):c.565C>T (p.Gln189Ter) http://identifiers.org/clinvar/2093 ^@ DFNA5, IVS8DS, A-G, +4 http://identifiers.org/clinvar/2139 ^@ NM_015384.4(NIPBL):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/2186 ^@ STRADA, 7-KB DEL http://identifiers.org/clinvar/2230 ^@ NM_000551.3(VHL):c.376G>T (p.Asp126Tyr) http://identifiers.org/clinvar/2276 ^@ NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) http://identifiers.org/clinvar/2321 ^@ ETHE1, 11-BP DEL, NT440 http://identifiers.org/clinvar/2367 ^@ NM_213653.3(HFE2):c.665T>A (p.Ile222Asn) http://identifiers.org/clinvar/2412 ^@ NM_005216.4(DDOST):c.*807_*5409del http://identifiers.org/clinvar/2458 ^@ NM_000434.3(NEU1):c.69G>A (p.Trp23Ter) http://identifiers.org/clinvar/2503 ^@ EXT1, IVS1DS, 4-BP DEL http://identifiers.org/clinvar/2551 ^@ NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) http://identifiers.org/clinvar/2598 ^@ NM_058172.5(ANTXR2):c.1179G>A (p.Glu393=) http://identifiers.org/clinvar/2643 ^@ NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) http://identifiers.org/clinvar/10174 ^@ NM_000132.3(F8):c.410C>T (p.Thr137Ile) http://identifiers.org/clinvar/10219 ^@ F8, IVS10AS, G-T, +1 http://identifiers.org/clinvar/10264 ^@ NM_000132.3(F8):c.4858delC (p.Leu1620Terfs) http://identifiers.org/clinvar/10309 ^@ NM_000132.3(F8):c.6360T>G (p.Phe2120Leu) http://identifiers.org/clinvar/11416 ^@ NM_014009.3(FOXP3):c.970T>C (p.Phe324Leu) http://identifiers.org/clinvar/11466 ^@ NM_003639.4(IKBKG):c.863C>G (p.Ala288Gly) http://identifiers.org/clinvar/11518 ^@ DLG3, IVS6DS, G-A, +5 http://identifiers.org/clinvar/11568 ^@ NM_002578.4(PAK3):c.1255C>T (p.Arg419Ter) http://identifiers.org/clinvar/12320 ^@ NM_001715.2(BLK):c.*338T>G http://identifiers.org/clinvar/12371 ^@ NM_000546.5(TP53):c.105G>T (p.Leu35Phe) http://identifiers.org/clinvar/12422 ^@ NM_000363.4(TNNI3):c.586G>A (p.Asp196Asn) http://identifiers.org/clinvar/12473 ^@ NM_001159287.1(TPI1):c.547G>T (p.Glu183Ter) http://identifiers.org/clinvar/12523 ^@ NM_004612.3(TGFBR1):c.1460G>C (p.Arg487Pro) http://identifiers.org/clinvar/12573 ^@ NM_198291.2(SRC):c.1591C>T (p.Gln531Ter) http://identifiers.org/clinvar/12624 ^@ NM_007313.2(ABL1):c.1001C>T (p.Thr334Ile) http://identifiers.org/clinvar/12776 ^@ NR_030286.1(MIR559):n.278_23134del http://identifiers.org/clinvar/12826 ^@ NM_003106.3(SOX2):c.571G>A (p.Ala191Thr) http://identifiers.org/clinvar/12877 ^@ NM_021007.2(SCN2A):c.4687C>G (p.Leu1563Val) http://identifiers.org/clinvar/12927 ^@ NM_000702.3(ATP1A2):c.857T>C (p.Ile286Thr) http://identifiers.org/clinvar/12977 ^@ NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) http://identifiers.org/clinvar/13028 ^@ NM_000539.3(RHO):c.403C>T (p.Arg135Trp) http://identifiers.org/clinvar/13080 ^@ RB1, 5-BP DEL, EX8 http://identifiers.org/clinvar/13130 ^@ NM_000536.3(RAG2):c.686G>A (p.Arg229Gln) http://identifiers.org/clinvar/13181 ^@ NM_000322.4(PRPH2):c.518A>T (p.Asp173Val) http://identifiers.org/clinvar/13232 ^@ NM_005360.4(MAF):c.890A>G (p.Lys297Arg) http://identifiers.org/clinvar/13283 ^@ NM_000141.4(FGFR2):c.868T>C (p.Trp290Arg) http://identifiers.org/clinvar/13334 ^@ NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) http://identifiers.org/clinvar/13387 ^@ NM_000207.2(INS):c.287G>A (p.Cys96Tyr) http://identifiers.org/clinvar/13439 ^@ NM_000371.3(TTR):c.209G>T (p.Ser70Ile) http://identifiers.org/clinvar/277677 ^@ NM_000219.5(KCNE1):c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro) http://identifiers.org/clinvar/13490 ^@ NM_000217.2(KCNA1):c.731C>A (p.Pro244His) http://identifiers.org/clinvar/13540 ^@ NM_001001547.2(CD36):c.760T>C (p.Phe254Leu) http://identifiers.org/clinvar/36869 ^@ NM_003242.5(TGFBR2):c.984C>T (p.His328=) http://identifiers.org/clinvar/36921 ^@ NM_001382.3(DPAGT1):c.358C>A (p.Leu120Met) http://identifiers.org/clinvar/37017 ^@ NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) http://identifiers.org/clinvar/37096 ^@ FAN1, 2-BP DEL, 2036GA http://identifiers.org/clinvar/37218 ^@ C4ORF26, IVS1AS, A-T, -2 http://identifiers.org/clinvar/37310 ^@ WDR11, HIS690GLN http://identifiers.org/clinvar/37394 ^@ NM_007294.3(BRCA1):c.1175_1215del41 (p.Leu392Glnfs) http://identifiers.org/clinvar/37446 ^@ NM_007294.3(BRCA1):c.212+1G>A http://identifiers.org/clinvar/37500 ^@ NM_007294.3(BRCA1):c.302-2A>C http://identifiers.org/clinvar/37557 ^@ NM_007294.3(BRCA1):c.398G>A (p.Arg133His) http://identifiers.org/clinvar/37608 ^@ NM_007294.3(BRCA1):c.470_471delCT (p.Ser157Terfs) http://identifiers.org/clinvar/37663 ^@ NM_007294.3(BRCA1):c.5387C>A (p.Ser1796Ter) http://identifiers.org/clinvar/37718 ^@ NM_000059.3(BRCA2):c.10024G>A (p.Glu3342Lys) http://identifiers.org/clinvar/37769 ^@ NM_000059.3(BRCA2):c.1929delG (p.Arg645Glufs) http://identifiers.org/clinvar/37822 ^@ NM_000059.3(BRCA2):c.316+1G>A http://identifiers.org/clinvar/37874 ^@ NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr) http://identifiers.org/clinvar/37927 ^@ NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) http://identifiers.org/clinvar/37981 ^@ NM_000059.3(BRCA2):c.5631delC (p.Asn1877Lysfs) http://identifiers.org/clinvar/38033 ^@ NM_000059.3(BRCA2):c.62A>G (p.Lys21Arg) http://identifiers.org/clinvar/38086 ^@ NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) http://identifiers.org/clinvar/38136 ^@ NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) http://identifiers.org/clinvar/38186 ^@ NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) http://identifiers.org/clinvar/38236 ^@ NM_000059.3(BRCA2):c.9383G>A (p.Arg3128Gln) http://identifiers.org/clinvar/38297 ^@ NM_000021.3(PSEN1):c.806G>A (p.Arg269His) http://identifiers.org/clinvar/38353 ^@ NM_002437.4(MPV17):c.271_273delTTG (p.Leu91del) http://identifiers.org/clinvar/38410 ^@ NM_018713.2(SLC30A10):c.922C>T (p.Gln308Ter) http://identifiers.org/clinvar/38547 ^@ NM_000155.3(GALT):c.398_399dupCC (p.Trp134Profs) http://identifiers.org/clinvar/39575 ^@ m.15923A>G http://identifiers.org/clinvar/39627 ^@ CHD8, 1-BP INS, T http://identifiers.org/clinvar/39677 ^@ DDHD2, 1-BP DEL, 2057A http://identifiers.org/clinvar/39729 ^@ NM_000431.3(MVK):c.1039+2T>C http://identifiers.org/clinvar/39780 ^@ OTOGL, 5238, G-A, +5 http://identifiers.org/clinvar/39831 ^@ NM_020194.5(MFF):c.190C>T (p.Gln64Ter) http://identifiers.org/clinvar/39974 ^@ NM_004525.2(LRP2):c.6160G>A (p.Asp2054Asn) http://identifiers.org/clinvar/40077 ^@ NM_006147.3(IRF6):c.145C>T (p.Gln49Ter) http://identifiers.org/clinvar/40229 ^@ NM_001407.2(CELSR3):c.7890G>A (p.Met2630Ile) http://identifiers.org/clinvar/40366 ^@ NM_004333.4(BRAF):c.1403T>C (p.Phe468Ser) http://identifiers.org/clinvar/40432 ^@ NM_005343.3(HRAS):c.111+15G>A http://identifiers.org/clinvar/40502 ^@ NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) http://identifiers.org/clinvar/40558 ^@ NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) http://identifiers.org/clinvar/40621 ^@ NM_002880.3(RAF1):c.1629G>C (p.Thr543=) http://identifiers.org/clinvar/40699 ^@ NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) http://identifiers.org/clinvar/40786 ^@ NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu) http://identifiers.org/clinvar/40985 ^@ NM_000084.4(CLCN5):c.815A>G (p.Tyr272Cys) http://identifiers.org/clinvar/41043 ^@ NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) http://identifiers.org/clinvar/41099 ^@ NM_003611.2(OFD1):c.235G>A (p.Ala79Thr) http://identifiers.org/clinvar/41155 ^@ NM_003611.2(OFD1):c.919delG (p.Val307Leufs) http://identifiers.org/clinvar/41206 ^@ NM_003977.3(AIP):c.803A>G (p.Tyr268Cys) http://identifiers.org/clinvar/52661 ^@ NM_000059.3(BRCA2):c.8717_8718delAA (p.Glu2906Glyfs) http://identifiers.org/clinvar/52711 ^@ NM_000059.3(BRCA2):c.8953+98T>C http://identifiers.org/clinvar/52762 ^@ NM_000059.3(BRCA2):c.9148C>T (p.Gln3050Ter) http://identifiers.org/clinvar/52813 ^@ NM_000059.3(BRCA2):c.9310_9311delAA (p.Lys3104Valfs) http://identifiers.org/clinvar/52864 ^@ NM_000059.3(BRCA2):c.9537dupG (p.Leu3180Alafs) http://identifiers.org/clinvar/52914 ^@ NM_000059.3(BRCA2):c.9907A>T (p.Ser3303Cys) http://identifiers.org/clinvar/52964 ^@ NM_000218.2(KCNQ1):c.1140G>T (p.Arg380Ser) http://identifiers.org/clinvar/53014 ^@ NM_000218.2(KCNQ1):c.1756A>G (p.Asn586Asp) http://identifiers.org/clinvar/53064 ^@ NM_000218.2(KCNQ1):c.551A>C (p.Tyr184Ser) http://identifiers.org/clinvar/53115 ^@ NM_000218.2(KCNQ1):c.830C>G (p.Ser277Trp) http://identifiers.org/clinvar/53166 ^@ NM_000492.3(CFTR):c.1018delA (p.Ile340Serfs) http://identifiers.org/clinvar/53218 ^@ NM_000492.3(CFTR):c.1210-2A>C http://identifiers.org/clinvar/53270 ^@ NM_000492.3(CFTR):c.1501A>G (p.Thr501Ala) http://identifiers.org/clinvar/54126 ^@ NM_007294.3(BRCA1):c.1099dupA (p.Thr367Asnfs) http://identifiers.org/clinvar/54176 ^@ NM_007294.3(BRCA1):c.1252G>T (p.Glu418Ter) http://identifiers.org/clinvar/54226 ^@ NM_007294.3(BRCA1):c.1380dupA (p.Phe461Ilefs) http://identifiers.org/clinvar/54277 ^@ NM_007294.3(BRCA1):c.1510C>T (p.Arg504Cys) http://identifiers.org/clinvar/54478 ^@ NM_007294.3(BRCA1):c.2157dupA (p.Glu720Argfs) http://identifiers.org/clinvar/54578 ^@ NM_007294.3(BRCA1):c.2477_2478delCA (p.Thr826Argfs) http://identifiers.org/clinvar/54628 ^@ NM_007294.3(BRCA1):c.2650A>G (p.Thr884Ala) http://identifiers.org/clinvar/54678 ^@ NM_007294.3(BRCA1):c.2767_2770delGTTA (p.Val923Ilefs) http://identifiers.org/clinvar/54728 ^@ NM_007294.3(BRCA1):c.2936G>A (p.Arg979His) http://identifiers.org/clinvar/54778 ^@ NM_007294.3(BRCA1):c.3144T>C (p.Gly1048=) http://identifiers.org/clinvar/54828 ^@ NM_007294.3(BRCA1):c.32T>C (p.Val11Ala) http://identifiers.org/clinvar/54878 ^@ NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro) http://identifiers.org/clinvar/54928 ^@ NM_007294.3(BRCA1):c.3596_3602delCTCAGGG (p.Ala1199Valfs) http://identifiers.org/clinvar/54980 ^@ NM_007294.3(BRCA1):c.3722C>G (p.Ser1241Cys) http://identifiers.org/clinvar/55031 ^@ NM_007294.3(BRCA1):c.3862delG (p.Glu1288Lysfs) http://identifiers.org/clinvar/55082 ^@ NM_007294.3(BRCA1):c.4041_4042delAG (p.Gly1348Asnfs) http://identifiers.org/clinvar/55133 ^@ NM_007294.3(BRCA1):c.4186-10G>A http://identifiers.org/clinvar/55183 ^@ NM_007294.3(BRCA1):c.4372C>T (p.Gln1458Ter) http://identifiers.org/clinvar/55234 ^@ NM_007294.3(BRCA1):c.4595_4596insCT (p.Asp1533Leufs) http://identifiers.org/clinvar/55284 ^@ NM_007294.3(BRCA1):c.4766G>A (p.Arg1589His) http://identifiers.org/clinvar/55335 ^@ NM_007294.3:c.4964_4982delGGCCTGACCCCAGAAGA http://identifiers.org/clinvar/55385 ^@ NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln) http://identifiers.org/clinvar/55435 ^@ NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys) http://identifiers.org/clinvar/55485 ^@ NM_007294.3(BRCA1):c.5256A>C (p.Ala1752=) http://identifiers.org/clinvar/55638 ^@ NM_007294.3(BRCA1):c.55C>T (p.Gln19Ter) http://identifiers.org/clinvar/55691 ^@ NM_007294.3(BRCA1):c.75C>T (p.Pro25=) http://identifiers.org/clinvar/55742 ^@ NM_007294.3(BRCA1):c.890T>A (p.Met297Lys) http://identifiers.org/clinvar/55873 ^@ NM_015340.3(LARS2):c.1077delT (p.Ile360Phefs) http://identifiers.org/clinvar/56000 ^@ NM_000111.2(SLC26A3):c.392C>T (p.Pro131Leu) http://identifiers.org/clinvar/56762 ^@ NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) http://identifiers.org/clinvar/56845 ^@ NM_001199107.1(TBC1D24):c.969_970delGT (p.Ser324Thrfs) http://identifiers.org/clinvar/57022 ^@ GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1 http://identifiers.org/clinvar/57076 ^@ GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 http://identifiers.org/clinvar/57131 ^@ GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1 http://identifiers.org/clinvar/57182 ^@ GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 http://identifiers.org/clinvar/57235 ^@ GRCh38/hg38 9p24.3(chr9:839152-2094920)x3 http://identifiers.org/clinvar/57288 ^@ GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1 http://identifiers.org/clinvar/57341 ^@ GRCh38/hg38 4q25-26(chr4:112689224-113436470)x3 http://identifiers.org/clinvar/57393 ^@ GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1 http://identifiers.org/clinvar/101160 ^@ NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter) http://identifiers.org/clinvar/101210 ^@ NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp) http://identifiers.org/clinvar/101360 ^@ NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp) http://identifiers.org/clinvar/101410 ^@ NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del) http://identifiers.org/clinvar/101460 ^@ NM_000090.3(COL3A1):c.1923+1G>C (p.Gly624_Gln641del) http://identifiers.org/clinvar/101516 ^@ NM_198173.2(GRHL3):c.970_971insGT (p.Phe324Cysfs) http://identifiers.org/clinvar/102473 ^@ NM_000277.1(PAH):c.1024G>A (p.Ala342Thr) http://identifiers.org/clinvar/102528 ^@ NM_000277.1(PAH):c.1114A>T (p.Thr372Ser) http://identifiers.org/clinvar/102581 ^@ NM_000277.1(PAH):c.125A>T (p.Lys42Ile) http://identifiers.org/clinvar/102635 ^@ NM_000277.1(PAH):c.231T>G (p.Tyr77Ter) http://identifiers.org/clinvar/102688 ^@ NM_000277.1(PAH):c.466G>C (p.Ala156Pro) http://identifiers.org/clinvar/102738 ^@ NM_000277.1(PAH):c.563G>A (p.Gly188Asp) http://identifiers.org/clinvar/102789 ^@ NM_000277.1(PAH):c.696A>G (p.Gln232=) http://identifiers.org/clinvar/102839 ^@ NM_000277.1(PAH):c.799C>G (p.Gln267Glu) http://identifiers.org/clinvar/102891 ^@ NM_000277.1(PAH):c.911A>G (p.Gln304Arg) http://identifiers.org/clinvar/102949 ^@ NM_001282358.1(NLRX1):c.-49+235T>C http://identifiers.org/clinvar/102999 ^@ NM_000246.3(CIITA):c.2658-138G>A http://identifiers.org/clinvar/103049 ^@ NM_001174081.2(NLRP2):c.1209C>T (p.Ile403=) http://identifiers.org/clinvar/103099 ^@ NM_006092.2(NOD1):c.2285+31T>C http://identifiers.org/clinvar/103199 ^@ NM_032206.4(NLRC5):c.4752-73G>A http://identifiers.org/clinvar/120235 ^@ NM_017637.5(BNC2):c.2202C>T (p.Gly734=) http://identifiers.org/clinvar/120285 ^@ NM_000277.1(PAH):c.785T>G (p.Val262Gly) http://identifiers.org/clinvar/125442 ^@ NM_001080442.2(SLC38A8):c.95T>G (p.Ile32Ser) http://identifiers.org/clinvar/126651 ^@ NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799Leufs) http://identifiers.org/clinvar/126701 ^@ NM_024675.3(PALB2):c.2996+17T>C http://identifiers.org/clinvar/126751 ^@ NM_024675.3(PALB2):c.48+27G>T http://identifiers.org/clinvar/126802 ^@ NG_009009.1:g.166501C>G http://identifiers.org/clinvar/126855 ^@ NM_004996.3(ABCC1):c.1988+310C>T http://identifiers.org/clinvar/126912 ^@ NM_007194.3(CHEK2):c.1259+28A>G http://identifiers.org/clinvar/126962 ^@ NM_017849.3(TMEM127):c.116_119delTGTC (p.Ile41Argfs) http://identifiers.org/clinvar/127012 ^@ NM_002485.4(NBN):c.702+126A>T http://identifiers.org/clinvar/127062 ^@ NM_001983.3(ERCC1):c.426-11G>A http://identifiers.org/clinvar/127126 ^@ NM_007294.3(BRCA1):c.5074+65G>A http://identifiers.org/clinvar/127232 ^@ NM_000806.5(GABRA1):c.655G>A (p.Asp219Asn) http://identifiers.org/clinvar/127286 ^@ NM_000038.5(APC):c.3275A>C (p.His1092Pro) http://identifiers.org/clinvar/127336 ^@ NM_000051.3(ATM):c.1310T>C (p.Met437Thr) http://identifiers.org/clinvar/127386 ^@ NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) http://identifiers.org/clinvar/127436 ^@ NM_000051.3(ATM):c.7078T>C (p.Tyr2360His) http://identifiers.org/clinvar/127487 ^@ NM_000057.3(BLM):c.2475G>A (p.Pro825=) http://identifiers.org/clinvar/127537 ^@ NM_000136.2(FANCC):c.178G>A (p.Val60Ile) http://identifiers.org/clinvar/127587 ^@ NM_000179.2(MSH6):c.3485C>A (p.Ala1162Asp) http://identifiers.org/clinvar/127638 ^@ NM_000251.2(MSH2):c.2554G>C (p.Glu852Gln) http://identifiers.org/clinvar/127697 ^@ NM_000455.4(STK11):c.1045G>A (p.Glu349Lys) http://identifiers.org/clinvar/127747 ^@ NM_000465.3(BARD1):c.776A>G (p.Asp259Gly) http://identifiers.org/clinvar/127798 ^@ NM_000535.6(PMS2):c.857A>G (p.Asp286Gly) http://identifiers.org/clinvar/159942 ^@ NM_006306.3(SMC1A):c.1545+4A>C http://identifiers.org/clinvar/160972 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 http://identifiers.org/clinvar/161023 ^@ GRCh38/hg38 2q13(chr2:110104900-110611314)x3 http://identifiers.org/clinvar/161073 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 http://identifiers.org/clinvar/162374 ^@ NM_001009944.2(PKD1):c.3133G>C (p.Val1045Leu) http://identifiers.org/clinvar/162436 ^@ NM_017813.4(IMPAD1):c.324delC (p.Ser108Argfs) http://identifiers.org/clinvar/162507 ^@ NM_000257.3(MYH7):c.3349G>T (p.Glu1117Ter) http://identifiers.org/clinvar/162587 ^@ NM_017739.3(POMGNT1):c.1540-16C>T http://identifiers.org/clinvar/167629 ^@ NM_001035.2(RYR2):c.6555+6G>A http://identifiers.org/clinvar/166435 ^@ NM_206933.2(USH2A):c.12505A>G (p.Thr4169Ala) http://identifiers.org/clinvar/179132 ^@ NM_206933.2(USH2A):c.9842G>T (p.Cys3281Phe) http://identifiers.org/clinvar/178831 ^@ NM_133378.4(TTN):c.51024T>C (p.Arg17008=) http://identifiers.org/clinvar/179482 ^@ NM_206933.2(USH2A):c.632G>A (p.Trp211Ter) http://identifiers.org/clinvar/179182 ^@ NM_133378.4(TTN):c.61689C>G (p.Val20563=) http://identifiers.org/clinvar/166275 ^@ NM_133378.4(TTN):c.10360+2533A>C http://identifiers.org/clinvar/166325 ^@ NM_133378.4(TTN):c.3605T>C (p.Val1202Ala) http://identifiers.org/clinvar/163143 ^@ NM_001369.2(DNAH5):c.6579+3A>G http://identifiers.org/clinvar/179332 ^@ NM_133378.4(TTN):c.1312G>A (p.Val438Met) http://identifiers.org/clinvar/177872 ^@ NM_001927.3(DES):c.1285C>T (p.Arg429Ter) http://identifiers.org/clinvar/162839 ^@ NM_181426.1(CCDC39):c.2397G>A (p.Val799=) http://identifiers.org/clinvar/177772 ^@ NM_004415.3(DSP):c.8472G= (p.Gly2824=) http://identifiers.org/clinvar/163093 ^@ NM_001277115.1(DNAH11):c.470G>A (p.Gly157Glu) http://identifiers.org/clinvar/177822 ^@ NM_005228.4(EGFR):c.2239_2257del19insA (p.Leu747_Pro753delinsThr) http://identifiers.org/clinvar/178731 ^@ NM_001277115.1(DNAH11):c.9561G>A (p.Leu3187=) http://identifiers.org/clinvar/177721 ^@ NM_005228.4(EGFR):c.2237_2254del18 (p.Glu746_Ser752delinsAla) http://identifiers.org/clinvar/163604 ^@ NM_032119.3(ADGRV1):c.12424C>T (p.Arg4142Trp) http://identifiers.org/clinvar/198419 ^@ NM_000392.4(ABCC2):c.842G>A (p.Ser281Asn) http://identifiers.org/clinvar/198469 ^@ NM_001457.3(FLNB):c.1082G>T (p.Gly361Val) http://identifiers.org/clinvar/198523 ^@ NM_057174.2(PEX16):c.543G>A (p.Thr181=) http://identifiers.org/clinvar/198574 ^@ NM_018451.4(CENPJ):c.1288G>C (p.Glu430Gln) http://identifiers.org/clinvar/198626 ^@ NM_173660.4(DOK7):c.957delC (p.Lys320Serfs) http://identifiers.org/clinvar/198677 ^@ NM_032119.3(ADGRV1):c.16811G>A (p.Gly5604Asp) http://identifiers.org/clinvar/201924 ^@ NM_144573.3(NEXN):c.1271C>T (p.Thr424Ile) http://identifiers.org/clinvar/202038 ^@ NM_002667.4(PLN):c.73C>G (p.Arg25Gly) http://identifiers.org/clinvar/202155 ^@ NM_014000.2(VCL):c.1015C>T (p.Arg339Cys) http://identifiers.org/clinvar/201979 ^@ NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) http://identifiers.org/clinvar/202095 ^@ NM_000116.4(TAZ):c.751C>T (p.Arg251Trp) http://identifiers.org/clinvar/202206 ^@ NM_000052.6(ATP7A):c.1947-1G>A http://identifiers.org/clinvar/203100 ^@ NM_001256850.1(TTN):c.100832G>A (p.Arg33611Gln) http://identifiers.org/clinvar/203050 ^@ NM_001256850.1(TTN):c.94973T>C (p.Val31658Ala) http://identifiers.org/clinvar/203000 ^@ NM_001256850.1(TTN):c.89234A>C (p.Glu29745Ala) http://identifiers.org/clinvar/202491 ^@ NM_001256850.1(TTN):c.85730_85731delCA (p.Thr28577Serfs) http://identifiers.org/clinvar/202950 ^@ NM_001256850.1(TTN):c.83668C>T (p.Leu27890Phe) http://identifiers.org/clinvar/202900 ^@ NM_001256850.1(TTN):c.75790G>A (p.Gly25264Ser) http://identifiers.org/clinvar/202329 ^@ NM_001256850.1(TTN):c.71600C>A (p.Pro23867Gln) http://identifiers.org/clinvar/202850 ^@ NM_001256850.1(TTN):c.68752C>T (p.Arg22918Trp) http://identifiers.org/clinvar/202279 ^@ NM_001256850.1(TTN):c.62135-16C>T http://identifiers.org/clinvar/202800 ^@ NM_001256850.1(TTN):c.61645G>C (p.Gly20549Arg) http://identifiers.org/clinvar/230218 ^@ NM_005732.3(RAD50):c.3689T>G (p.Leu1230Trp) http://identifiers.org/clinvar/230668 ^@ NM_004168.3(SDHA):c.1533G>A (p.Leu511=) http://identifiers.org/clinvar/231118 ^@ NM_000535.6(PMS2):c.893A>G (p.Asp298Gly) http://identifiers.org/clinvar/234071 ^@ NM_000077.4(CDKN2A):c.305C>T (p.Ala102Val) http://identifiers.org/clinvar/233668 ^@ NM_020975.4(RET):c.1521A>T (p.Ser507=) http://identifiers.org/clinvar/230618 ^@ NM_004329.2(BMPR1A):c.1068C>T (p.Pro356=) http://identifiers.org/clinvar/233820 ^@ NM_000051.3(ATM):c.172G>T (p.Asp58Tyr) http://identifiers.org/clinvar/230468 ^@ NM_000051.3(ATM):c.2295delT (p.Asn765Lysfs) http://identifiers.org/clinvar/230318 ^@ NM_000051.3(ATM):c.3085dupA (p.Thr1029Asnfs) http://identifiers.org/clinvar/229768 ^@ NM_000051.3(ATM):c.8584+1G>A http://identifiers.org/clinvar/230168 ^@ NM_000051.3(ATM):c.8595A>T (p.Ile2865=) http://identifiers.org/clinvar/229868 ^@ NM_000051.3(ATM):c.8937G>A (p.Glu2979=) http://identifiers.org/clinvar/233568 ^@ NM_000059.3(BRCA2):c.3628G>A (p.Asp1210Asn) http://identifiers.org/clinvar/233618 ^@ NM_000059.3(BRCA2):c.5076delG (p.Trp1692Cysfs) http://identifiers.org/clinvar/233718 ^@ NM_000059.3(BRCA2):c.6038A>G (p.Lys2013Arg) http://identifiers.org/clinvar/230068 ^@ NM_000059.3(BRCA2):c.6156A>G (p.Ser2052=) http://identifiers.org/clinvar/233921 ^@ NM_000548.4(TSC2):c.2933G>A (p.Arg978His) http://identifiers.org/clinvar/233971 ^@ NM_000548.4(TSC2):c.3411T>G (p.Leu1137=) http://identifiers.org/clinvar/234171 ^@ NM_001042492.2(NF1):c.162T>C (p.Val54=) http://identifiers.org/clinvar/230968 ^@ NM_001042492.2(NF1):c.936A>C (p.Gly312=) http://identifiers.org/clinvar/230418 ^@ NM_001042492.2(NF1):c.4489T>C (p.Ser1497Pro) http://identifiers.org/clinvar/229668 ^@ NM_002878.3(RAD51D):c.954G>A (p.Glu318=) http://identifiers.org/clinvar/229818 ^@ NM_007294.3(BRCA1):c.1472A>C (p.Gln491Pro) http://identifiers.org/clinvar/229918 ^@ NM_007294.3(BRCA1):c.914G>A (p.Cys305Tyr) http://identifiers.org/clinvar/230568 ^@ NM_058216.2(RAD51C):c.378A>G (p.Ala126=) http://identifiers.org/clinvar/233871 ^@ NM_032043.2(BRIP1):c.1866C>G (p.Ser622=) http://identifiers.org/clinvar/234221 ^@ NM_032043.2(BRIP1):c.507G>A (p.Gln169=) http://identifiers.org/clinvar/230368 ^@ NM_000546.5(TP53):c.233C>G (p.Ala78Gly) http://identifiers.org/clinvar/234121 ^@ NM_007194.3(CHEK2):c.876dupT (p.Asp293Terfs) http://identifiers.org/clinvar/230268 ^@ NM_007194.3(CHEK2):c.381A>G (p.Glu127=) http://identifiers.org/clinvar/235221 ^@ NM_005535.2(IL12RB1):c.1573G>A (p.Ala525Thr) http://identifiers.org/clinvar/235274 ^@ NM_001875.4(CPS1):c.3355G>A (p.Ala1119Thr) http://identifiers.org/clinvar/235328 ^@ NM_001079802.1(FKTN):c.369+1G>T http://identifiers.org/clinvar/235381 ^@ NM_173076.2(ABCA12):c.1649A>G (p.Glu550Gly) http://identifiers.org/clinvar/235436 ^@ NM_015275.2(WASHC4):c.995T>C (p.Ile332Thr) http://identifiers.org/clinvar/235489 ^@ NC_012920.1:m.6719T>C http://identifiers.org/clinvar/235542 ^@ NM_000088.3(COL1A1):c.1300-8C>G http://identifiers.org/clinvar/235593 ^@ NM_014362.3(HIBCH):c.796G>A (p.Asp266Asn) http://identifiers.org/clinvar/235643 ^@ NM_018127.6(ELAC2):c.560-2A>G http://identifiers.org/clinvar/235698 ^@ NC_012920.1:m.9152T>C http://identifiers.org/clinvar/235760 ^@ NM_001184.3(ATR):c.268C>T (p.His90Tyr) http://identifiers.org/clinvar/235833 ^@ NM_052867.2(NALCN):c.3017T>C (p.Val1006Ala) http://identifiers.org/clinvar/235914 ^@ NM_000346.3(SOX9):c.507C>G (p.His169Gln) http://identifiers.org/clinvar/236067 ^@ NM_012338.3(TSPAN12):c.542G>T (p.Cys181Phe) http://identifiers.org/clinvar/236117 ^@ NM_000350.2(ABCA4):c.4540-2036C>A http://identifiers.org/clinvar/236167 ^@ NM_004621.5(TRPC6):c.1745-50T>A http://identifiers.org/clinvar/236243 ^@ NM_001197181.1(TUBB3):c.946A>G (p.Met316Val) http://identifiers.org/clinvar/236306 ^@ NC_000015.8:g.28723577_30322604del1599028 http://identifiers.org/clinvar/236356 ^@ NC_000007.12:g.66932381_68984321dup2051941 http://identifiers.org/clinvar/236406 ^@ NM_000157.3(GBA):c.866G>C (p.Gly289Ala) http://identifiers.org/clinvar/236507 ^@ NM_020366.3(RPGRIP1):c.2314C>T (p.Gln772Ter) http://identifiers.org/clinvar/236457 ^@ NM_006177.3(NRL):c.586_627dup42 (p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla) http://identifiers.org/clinvar/240947 ^@ NM_014874.3(MFN2):c.657T>G (p.Asp219Glu) http://identifiers.org/clinvar/239457 ^@ NM_003001.3(SDHC):c.73A>G (p.Arg25Gly) http://identifiers.org/clinvar/241497 ^@ NM_024529.4(CDC73):c.787C>T (p.Arg263Cys) http://identifiers.org/clinvar/241297 ^@ NM_020435.3(GJC2):c.472_474dupGAG (p.Glu158_Thr159insGlu) http://identifiers.org/clinvar/238303 ^@ NM_001103.3(ACTN2):c.899C>T (p.Thr300Met) http://identifiers.org/clinvar/239557 ^@ NM_003738.4(PTCH2):c.2427G>C (p.Ser809=) http://identifiers.org/clinvar/238353 ^@ NM_001128425.1(MUTYH):c.788+7T>A http://identifiers.org/clinvar/238603 ^@ NM_001165963.1(SCN1A):c.4282G>T (p.Val1428Phe) http://identifiers.org/clinvar/238853 ^@ NM_001267550.2(TTN):c.83649G>C (p.Lys27883Asn) http://identifiers.org/clinvar/238803 ^@ NM_001267550.2(TTN):c.56685C>T (p.Ser18895=) http://identifiers.org/clinvar/238753 ^@ NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) http://identifiers.org/clinvar/238703 ^@ NM_001267550.2(TTN):c.11362G>A (p.Glu3788Lys) http://identifiers.org/clinvar/241247 ^@ NM_018062.3(FANCL):c.1007_1009delTAT (p.Ile336_Cys337delinsSer) http://identifiers.org/clinvar/240997 ^@ NM_015120.4(ALMS1):c.4344T>C (p.His1448=) http://identifiers.org/clinvar/237313 ^@ NM_000249.3(MLH1):c.1441delA (p.Met481Trpfs) http://identifiers.org/clinvar/240347 ^@ NM_006206.4(PDGFRA):c.3228C>T (p.Ile1076=) http://identifiers.org/clinvar/237263 ^@ NM_000222.2(KIT):c.2484C>T (p.Asn828=) http://identifiers.org/clinvar/236607 ^@ NM_000038.5(APC):c.476dupA (p.Tyr159Terfs) http://identifiers.org/clinvar/236557 ^@ NM_000038.5(APC):c.1205G>A (p.Arg402His) http://identifiers.org/clinvar/236657 ^@ NM_000038.5(APC):c.8441A>G (p.Lys2814Arg) http://identifiers.org/clinvar/238953 ^@ NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) http://identifiers.org/clinvar/239507 ^@ NM_003122.4(SPINK1):c.56-37T>C http://identifiers.org/clinvar/238653 ^@ NM_001206927.1(DNAH8):c.558T>C (p.Asp186=) http://identifiers.org/clinvar/240847 ^@ NM_012123.3(MTO1):c.1549G>A (p.Val517Met) http://identifiers.org/clinvar/241397 ^@ NM_021930.5(RINT1):c.1650A>C (p.Leu550=) http://identifiers.org/clinvar/241097 ^@ NM_016203.3(PRKAG2):c.699_701dupGGC (p.Ala234_Leu235insAla) http://identifiers.org/clinvar/238903 ^@ NM_001277115.1(DNAH11):c.2871T>G (p.Phe957Leu) http://identifiers.org/clinvar/258506 ^@ NM_001999.3(FBN2):c.-17C>G http://identifiers.org/clinvar/261596 ^@ NM_022455.4(NSD1):c.7421A>C (p.Gln2474Pro) http://identifiers.org/clinvar/260446 ^@ NM_014845.5(FIG4):c.1584-8T>A http://identifiers.org/clinvar/256067 ^@ NM_000426.3(LAMA2):c.3597T>C (p.Asp1199=) http://identifiers.org/clinvar/260846 ^@ NM_017651.4(AHI1):c.2382A>G (p.Lys794=) http://identifiers.org/clinvar/259106 ^@ NM_003630.2(PEX3):c.523+20C>T http://identifiers.org/clinvar/261096 ^@ NM_019105.6(TNXB):c.10601-19C>A http://identifiers.org/clinvar/261146 ^@ NM_019105.6(TNXB):c.6288G>A (p.Pro2096=) http://identifiers.org/clinvar/260496 ^@ NM_014989.5(RIMS1):c.3470C>T (p.Pro1157Leu) http://identifiers.org/clinvar/259356 ^@ NM_004370.5(COL12A1):c.9083G>A (p.Arg3028His) http://identifiers.org/clinvar/260696 ^@ NM_016203.3(PRKAG2):c.864+32G>T http://identifiers.org/clinvar/256717 ^@ NM_000601.5(HGF):c.483-20G>A http://identifiers.org/clinvar/256767 ^@ NM_000722.3(CACNA2D1):c.3114C>T (p.Pro1038=) http://identifiers.org/clinvar/256217 ^@ NM_000466.2(PEX1):c.1521G>C (p.Trp507Cys) http://identifiers.org/clinvar/263135 ^@ NM_198488.3(FAM83H):c.2884C>T (p.Leu962=) http://identifiers.org/clinvar/261296 ^@ NM_020476.2(ANK1):c.1856G>A (p.Arg619His) http://identifiers.org/clinvar/260896 ^@ NM_017780.3(CHD7):c.2614-25_2614-4del22 http://identifiers.org/clinvar/261196 ^@ NM_019892.5(INPP5E):c.1543C>A (p.Arg515=) http://identifiers.org/clinvar/262096 ^@ NM_032634.3(PIGO):c.2040G>C (p.Leu680=) http://identifiers.org/clinvar/256267 ^@ NM_000494.3(COL17A1):c.2107A>G (p.Met703Val) http://identifiers.org/clinvar/261396 ^@ NM_020975.4(RET):c.2284+47C>T http://identifiers.org/clinvar/262146 ^@ NM_033056.3(PCDH15):c.195T>C (p.Thr65=) http://identifiers.org/clinvar/261546 ^@ NM_022124.5(CDH23):c.2587+45C>T http://identifiers.org/clinvar/258806 ^@ NM_002778.3(PSAP):c.-4C>T http://identifiers.org/clinvar/259456 ^@ NM_004621.5(TRPC6):c.171-20A>G http://identifiers.org/clinvar/255817 ^@ NM_000315.3(PTH):c.247C>A (p.Arg83=) http://identifiers.org/clinvar/263285 ^@ NM_207122.1(EXT2):c.*56G>A http://identifiers.org/clinvar/256317 ^@ NM_000506.4(F2):c.494C>T (p.Thr165Met) http://identifiers.org/clinvar/255617 ^@ NM_000244.3(MEN1):c.60G>C (p.Val20=) http://identifiers.org/clinvar/261746 ^@ NM_024649.4(BBS1):c.1110+45C>T http://identifiers.org/clinvar/259206 ^@ NM_003977.3(AIP):c.920G= (p.Arg307=) http://identifiers.org/clinvar/258556 ^@ NM_002180.2(IGHMBP2):c.1418+18A>G http://identifiers.org/clinvar/255667 ^@ NM_000260.3(MYO7A):c.736-47C>A http://identifiers.org/clinvar/261246 ^@ NM_020376.3(PNPLA2):c.756C>G (p.Asn252Lys) http://identifiers.org/clinvar/261696 ^@ NM_024312.4(GNPTAB):c.3693+32A>G http://identifiers.org/clinvar/255767 ^@ NM_000289.5(PFKM):c.844-44G>T http://identifiers.org/clinvar/259056 ^@ NM_003482.3(KMT2D):c.2785C>T (p.Leu929=) http://identifiers.org/clinvar/256667 ^@ NM_000552.4(VWF):c.3414C>T (p.Asn1138=) http://identifiers.org/clinvar/260396 ^@ NM_014363.5(SACS):c.2721G>A (p.Leu907=) http://identifiers.org/clinvar/258706 ^@ NM_002471.3(MYH6):c.1582-39C>T http://identifiers.org/clinvar/256817 ^@ NM_000814.5(GABRB3):c.1005C>T (p.Gly335=) http://identifiers.org/clinvar/255717 ^@ NM_000275.2(OCA2):c.1080C>T (p.Ser360=) http://identifiers.org/clinvar/335243 ^@ NM_004321.7(KIF1A):c.*1005G>A http://identifiers.org/clinvar/333941 ^@ NM_015040.3(PIKFYVE):c.*128G>T http://identifiers.org/clinvar/334192 ^@ NM_000384.2(APOB):c.-71C>T http://identifiers.org/clinvar/334042 ^@ NM_001875.4(CPS1):c.*346T>C http://identifiers.org/clinvar/334092 ^@ NM_000384.2(APOB):c.11820G>T (p.Thr3940=) http://identifiers.org/clinvar/334142 ^@ NM_000384.2(APOB):c.4449A>G (p.Glu1483=) http://identifiers.org/clinvar/333991 ^@ NM_001608.3(ACADL):c.992A>G (p.Gln331Arg) http://identifiers.org/clinvar/334443 ^@ NM_002181.3(IHH):c.600G>A (p.Thr200=) http://identifiers.org/clinvar/337599 ^@ NM_020184.3(CNNM4):c.*477_*479delTCC http://identifiers.org/clinvar/334493 ^@ NM_015311.2(OBSL1):c.3752C>T (p.Pro1251Leu) http://identifiers.org/clinvar/334293 ^@ NM_014140.3(SMARCAL1):c.863-9C>G http://identifiers.org/clinvar/342279 ^@ NM_016247.3(IMPG2):c.*3630_*3634delGTTTT http://identifiers.org/clinvar/342329 ^@ NM_016247.3(IMPG2):c.*300T>G http://identifiers.org/clinvar/342429 ^@ NM_000551.3(VHL):c.*1249G>A http://identifiers.org/clinvar/334693 ^@ NM_000092.4(COL4A4):c.*472A>T http://identifiers.org/clinvar/334843 ^@ NM_025243.3(SLC19A3):c.*1818T>A http://identifiers.org/clinvar/342629 ^@ NM_020754.3(ARHGAP31):c.384G>C (p.Leu128=) http://identifiers.org/clinvar/334593 ^@ NM_003590.4(CUL3):c.*2756G>A http://identifiers.org/clinvar/334893 ^@ NM_004509.3(SP110):c.1957-7_1957-6delCT http://identifiers.org/clinvar/334993 ^@ NM_000751.2(CHRND):c.*1025A>G http://identifiers.org/clinvar/337649 ^@ NM_001298.2(CNGA3):c.-286C>T http://identifiers.org/clinvar/342379 ^@ NM_033084.4(FANCD2):c.4186-5T>C http://identifiers.org/clinvar/343029 ^@ NM_000373.3(UMPS):c.*4344T>C http://identifiers.org/clinvar/343129 ^@ NM_032638.4(GATA2):c.*174G>A http://identifiers.org/clinvar/334943 ^@ NM_152383.4(DIS3L2):c.2080C>T (p.Pro694Ser) http://identifiers.org/clinvar/343229 ^@ NM_052985.3(IFT122):c.132C>G (p.Thr44=) http://identifiers.org/clinvar/342479 ^@ NM_000551.3(VHL):c.*2600T>A http://identifiers.org/clinvar/335093 ^@ NM_004369.3(COL6A3):c.*377C>T http://identifiers.org/clinvar/342529 ^@ NM_198196.2(CD96):c.855+14A>C http://identifiers.org/clinvar/342579 ^@ NM_198196.2(CD96):c.*1815G>T http://identifiers.org/clinvar/335193 ^@ NM_004544.3(NDUFA10):c.*414G>A http://identifiers.org/clinvar/343479 ^@ NM_000532.4(PCCB):c.1520A>G (p.Gln507Arg) http://identifiers.org/clinvar/342779 ^@ NM_001023570.3(IQCB1):c.722A>G (p.His241Arg) http://identifiers.org/clinvar/343079 ^@ NM_025265.3(TSEN2):c.990A>G (p.Lys330=) http://identifiers.org/clinvar/343179 ^@ NM_004637.5(RAB7A):c.*997T>C http://identifiers.org/clinvar/344079 ^@ NM_000055.3(BCHE):c.*293dupT http://identifiers.org/clinvar/343279 ^@ NM_000539.3(RHO):c.614T>G (p.Ile205Ser) http://identifiers.org/clinvar/350858 ^@ NM_014402.4(UQCRQ):c.*1026C>G http://identifiers.org/clinvar/357874 ^@ NM_014989.5(RIMS1):c.*545C>A http://identifiers.org/clinvar/350908 ^@ NM_001369.2(DNAH5):c.*1156C>T http://identifiers.org/clinvar/357924 ^@ NM_012434.4(SLC17A5):c.1111+7G>A http://identifiers.org/clinvar/351008 ^@ NM_001369.2(DNAH5):c.13005C>T (p.Thr4335=) http://identifiers.org/clinvar/358124 ^@ NM_022726.3(ELOVL4):c.*1551A>G http://identifiers.org/clinvar/350958 ^@ NM_017415.2(KLHL3):c.*1916G>A http://identifiers.org/clinvar/351308 ^@ NM_005219.4(DIAPH1):c.-27G>T http://identifiers.org/clinvar/355335 ^@ NM_006208.2(ENPP1):c.313+9G>T http://identifiers.org/clinvar/351108 ^@ NM_022464.4(SIL1):c.-106G>C http://identifiers.org/clinvar/351358 ^@ NM_001018077.1(NR3C1):c.*401dupT http://identifiers.org/clinvar/351158 ^@ NM_199189.2(MATR3):c.*672G>A http://identifiers.org/clinvar/351258 ^@ NM_005219.4(DIAPH1):c.*1607C>T http://identifiers.org/clinvar/351558 ^@ NM_054027.4(ANKH):c.313+9G>A http://identifiers.org/clinvar/358724 ^@ NM_001127500.2(MET):c.*1886T>A http://identifiers.org/clinvar/351458 ^@ NM_054027.4(ANKH):c.*1948_*1949delAT http://identifiers.org/clinvar/351758 ^@ NM_024577.3(SH3TC2):c.*8248G>C http://identifiers.org/clinvar/358924 ^@ NM_018718.2(CEP41):c.*1386dupG http://identifiers.org/clinvar/351658 ^@ NM_024577.3(SH3TC2):c.*14856C>A http://identifiers.org/clinvar/351908 ^@ NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) http://identifiers.org/clinvar/355985 ^@ NM_004562.2(PRKN):c.*2363C>A http://identifiers.org/clinvar/351808 ^@ NM_024577.3(SH3TC2):c.*5490G>A http://identifiers.org/clinvar/356085 ^@ NM_000367.4(TPMT):c.*1900A>C http://identifiers.org/clinvar/351858 ^@ NM_024577.3(SH3TC2):c.*2248A>G http://identifiers.org/clinvar/356135 ^@ NM_001080.3(ALDH5A1):c.726+8G>A http://identifiers.org/clinvar/351958 ^@ NM_000440.2(PDE6A):c.*1695G>A http://identifiers.org/clinvar/356385 ^@ NM_080680.2(COL11A2):c.4265C>T (p.Pro1422Leu) http://identifiers.org/clinvar/353095 ^@ NM_014244.4(ADAMTS2):c.2818G>A (p.Val940Met) http://identifiers.org/clinvar/353045 ^@ NM_014244.4(ADAMTS2):c.*2587T>C http://identifiers.org/clinvar/353145 ^@ NM_014244.4(ADAMTS2):c.220G>A (p.Val74Met) http://identifiers.org/clinvar/353195 ^@ NM_004553.4(NDUFS6):c.*15C>T http://identifiers.org/clinvar/361373 ^@ NM_178857.5(RP1L1):c.1478G>A (p.Arg493Gln) http://identifiers.org/clinvar/361424 ^@ NM_178857.5(RP1L1):c.166C>T (p.Arg56Cys) http://identifiers.org/clinvar/353645 ^@ NM_000436.3(OXCT1):c.*1434G>C http://identifiers.org/clinvar/353695 ^@ NM_000163.4(GHR):c.*542_*543insA http://identifiers.org/clinvar/353745 ^@ NM_002203.3(ITGA2):c.849C>T (p.Asp283=) http://identifiers.org/clinvar/361683 ^@ NM_002546.3(TNFRSF11B):c.*583T>A http://identifiers.org/clinvar/358024 ^@ NM_004999.3(MYO6):c.*1884A>C http://identifiers.org/clinvar/358074 ^@ NM_181714.3(LCA5):c.*1137G>T http://identifiers.org/clinvar/353845 ^@ NM_002203.3(ITGA2):c.*3164delG http://identifiers.org/clinvar/353495 ^@ NM_000514.3(GDNF):c.*1592G>T http://identifiers.org/clinvar/361833 ^@ NM_004519.3(KCNQ3):c.*3035A>G http://identifiers.org/clinvar/363722 ^@ NM_018972.2(GDAP1):c.*444A>G http://identifiers.org/clinvar/363822 ^@ NM_000318.2(PEX2):c.-183G>T http://identifiers.org/clinvar/306369 ^@ NM_012193.3(FZD4):c.*2747dupA http://identifiers.org/clinvar/363922 ^@ NM_153704.5(TMEM67):c.1700A>C (p.Tyr567Ser) http://identifiers.org/clinvar/364222 ^@ NM_014425.4(INVS):c.775C>T (p.Leu259=) http://identifiers.org/clinvar/306819 ^@ NM_024312.4(GNPTAB):c.204-15G>T http://identifiers.org/clinvar/364272 ^@ NM_001701.3(BAAT):c.*459G>A http://identifiers.org/clinvar/364422 ^@ NM_005502.3(ABCA1):c.3099G>C (p.Leu1033=) http://identifiers.org/clinvar/364472 ^@ NM_005502.3(ABCA1):c.-114C>G http://identifiers.org/clinvar/364572 ^@ NM_003640.4(IKBKAP):c.1758T>G (p.Pro586=) http://identifiers.org/clinvar/364522 ^@ NM_001079802.1(FKTN):c.*4940C>G http://identifiers.org/clinvar/300725 ^@ NM_016065.3(MRPS16):c.14-12G>A http://identifiers.org/clinvar/307808 ^@ NM_172364.4(CACNA2D4):c.*1275T>G http://identifiers.org/clinvar/364672 ^@ NM_015404.3(WHRN):c.*357C>G http://identifiers.org/clinvar/307858 ^@ NM_172364.4(CACNA2D4):c.1683T>C (p.Asn561=) http://identifiers.org/clinvar/308008 ^@ NM_021957.3(GYS2):c.525C>T (p.Val175=) http://identifiers.org/clinvar/308058 ^@ NM_004985.4(KRAS):c.*4305_*4306dupTT http://identifiers.org/clinvar/308108 ^@ NM_004985.4(KRAS):c.*1418_*1420delAAA http://identifiers.org/clinvar/364972 ^@ NM_002316.3(LMX1B):c.*3400G>A http://identifiers.org/clinvar/364872 ^@ NM_000550.2(TYRP1):c.*853A>C http://identifiers.org/clinvar/308358 ^@ NM_139241.3(FGD4):c.*4211T>C http://identifiers.org/clinvar/308408 ^@ NM_012062.4(DNM1L):c.*600C>T http://identifiers.org/clinvar/365661 ^@ NM_000787.3(DBH):c.1410A>G (p.Thr470=) http://identifiers.org/clinvar/301714 ^@ NM_016341.3(PLCE1):c.3281G>C (p.Gly1094Ala) http://identifiers.org/clinvar/365861 ^@ NM_052813.4(CARD9):c.-24A>C http://identifiers.org/clinvar/365912 ^@ NM_006412.3(AGPAT2):c.*164C>A http://identifiers.org/clinvar/365962 ^@ NM_016219.4(MAN1B1):c.1485A>G (p.Arg495=) http://identifiers.org/clinvar/366112 ^@ NM_144966.5(FREM1):c.5335-8dupC http://identifiers.org/clinvar/366162 ^@ NM_144966.5(FREM1):c.1119A>T (p.Pro373=) http://identifiers.org/clinvar/366412 ^@ NM_133497.3(KCNV2):c.225C>T (p.Asp75=) http://identifiers.org/clinvar/302364 ^@ NM_002906.3(RDX):c.-297C>T http://identifiers.org/clinvar/366512 ^@ NM_001256054.2(C9orf72):c.1260-13_1260-12insTT http://identifiers.org/clinvar/310347 ^@ NM_000239.2(LYZ):c.*461G>A http://identifiers.org/clinvar/310397 ^@ NM_173353.3(TPH2):c.*479G>A http://identifiers.org/clinvar/302714 ^@ NM_001164277.1(SLC37A4):c.-217G>A http://identifiers.org/clinvar/366362 ^@ NM_003383.4(VLDLR):c.540C>T (p.Ser180=) http://identifiers.org/clinvar/302764 ^@ NM_005188.3(CBL):c.-103_-95delGGCGGCGGC http://identifiers.org/clinvar/366912 ^@ NM_001042413.1(GLIS3):c.*2732G>A http://identifiers.org/clinvar/366462 ^@ NM_000459.4(TEK):c.*287C>T http://identifiers.org/clinvar/303014 ^@ NM_005422.2(TECTA):c.3216C>T (p.Cys1072=) http://identifiers.org/clinvar/340439 ^@ NM_006657.2(FTCD):c.368-15C>T http://identifiers.org/clinvar/321976 ^@ NM_017775.3(TTC19):c.*1321_*1324dupAAAA http://identifiers.org/clinvar/314501 ^@ NM_004452.3(ESRRB):c.*762dupG http://identifiers.org/clinvar/340690 ^@ NM_014339.6(IL17RA):c.*3734C>A http://identifiers.org/clinvar/340740 ^@ NM_014339.6(IL17RA):c.*5779delA http://identifiers.org/clinvar/314601 ^@ NM_004863.3(SPTLC2):c.*3812C>T http://identifiers.org/clinvar/341090 ^@ NM_000268.3(NF2):c.*561C>G http://identifiers.org/clinvar/341190 ^@ NM_000355.3(TCN2):c.230A>T (p.Lys77Met) http://identifiers.org/clinvar/341240 ^@ NM_000343.3(SLC5A1):c.549C>T (p.Leu183=) http://identifiers.org/clinvar/341440 ^@ NM_004737.5(LARGE1):c.-34G>A http://identifiers.org/clinvar/341490 ^@ NM_002473.5(MYH9):c.5877C>T (p.Ala1959=) http://identifiers.org/clinvar/341540 ^@ NM_002473.5(MYH9):c.-163C>G http://identifiers.org/clinvar/313551 ^@ NM_182914.2(SYNE2):c.10196G>A (p.Arg3399His) http://identifiers.org/clinvar/313751 ^@ NM_000347.5(SPTB):c.2149C>T (p.Arg717Cys) http://identifiers.org/clinvar/313801 ^@ NM_002382.4(MAX):c.*587G>A http://identifiers.org/clinvar/316090 ^@ NM_025137.3(SPG11):c.4798G>A (p.Asp1600Asn) http://identifiers.org/clinvar/316140 ^@ NM_014080.4(DUOX2):c.4098G>A (p.Pro1366=) http://identifiers.org/clinvar/314301 ^@ NM_000428.2(LTBP2):c.2184C>T (p.His728=) http://identifiers.org/clinvar/316190 ^@ NM_014080.4(DUOX2):c.326-5C>T http://identifiers.org/clinvar/316240 ^@ NM_012388.3(BLOC1S6):c.*2022G>C http://identifiers.org/clinvar/314351 ^@ NM_001040108.1(MLH3):c.*2417G>A http://identifiers.org/clinvar/368280 ^@ NM_022567.2(NYX):c.*736G>C http://identifiers.org/clinvar/314551 ^@ NM_013382.5(POMT2):c.*103C>T http://identifiers.org/clinvar/314651 ^@ NM_004863.3(SPTLC2):c.*727C>T http://identifiers.org/clinvar/316690 ^@ NM_001018005.1(TPM1):c.*76A>G http://identifiers.org/clinvar/368780 ^@ NM_024921.3(POF1B):c.*44T>G http://identifiers.org/clinvar/314701 ^@ NM_000369.2(TSHR):c.*125A>G http://identifiers.org/clinvar/324534 ^@ NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) http://identifiers.org/clinvar/316790 ^@ NM_004727.2(SLC24A1):c.425_428delAAGA (p.Glu142Alafs) http://identifiers.org/clinvar/324584 ^@ NM_014336.4(AIPL1):c.*1165C>T http://identifiers.org/clinvar/324784 ^@ NM_002734.4(PRKAR1A):c.*138C>A http://identifiers.org/clinvar/324834 ^@ NM_000891.2(KCNJ2):c.*122G>A http://identifiers.org/clinvar/324884 ^@ NM_000891.2(KCNJ2):c.*2754T>C http://identifiers.org/clinvar/324934 ^@ NM_000346.3(SOX9):c.*929A>C http://identifiers.org/clinvar/317340 ^@ NM_002693.2(POLG):c.-241C>T http://identifiers.org/clinvar/315740 ^@ NM_152594.2(SPRED1):c.*248T>C http://identifiers.org/clinvar/315790 ^@ NM_152594.2(SPRED1):c.*5202C>T http://identifiers.org/clinvar/316340 ^@ NM_000138.4(FBN1):c.*1245C>T http://identifiers.org/clinvar/373801 ^@ NM_022114.3(PRDM16):c.2815C>G (p.Leu939Val) http://identifiers.org/clinvar/373751 ^@ NM_004519.3(KCNQ3):c.2567C>T (p.Thr856Ile) http://identifiers.org/clinvar/373851 ^@ NG_005905.2:g.118449_154829del http://identifiers.org/clinvar/373954 ^@ NM_000094.3(COL7A1):c.1442G>A (p.Arg481His) http://identifiers.org/clinvar/374054 ^@ NM_001243226.2(TCF4):c.806-1G>A http://identifiers.org/clinvar/373904 ^@ NM_001037343.1(CDKL5):c.1471_1472dupGC (p.Leu492Hisfs) http://identifiers.org/clinvar/374004 ^@ NM_005183.3(CACNA1F):c.694A>T (p.Lys232Ter) http://identifiers.org/clinvar/374845 ^@ NM_021964.2(ZNF148):c.1581_1582insC (p.Lys528Glnfs) http://identifiers.org/clinvar/374899 ^@ NM_015454.2(LARP7):c.213_214dupAT (p.Ser72Tyrfs) http://identifiers.org/clinvar/374962 ^@ NM_001040113.1(MYH11):c.5818C>G (p.Pro1940Ala) http://identifiers.org/clinvar/375232 ^@ NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del http://identifiers.org/clinvar/375293 ^@ NM_003995.3(NPR2):c.560T>A (p.Val187Asp) http://identifiers.org/clinvar/375348 ^@ NM_014317.4(PDSS1):c.1108A>C (p.Ser370Arg) http://identifiers.org/clinvar/375399 ^@ NM_004980.4(KCND3):c.1153T>C (p.Ser385Pro) http://identifiers.org/clinvar/375459 ^@ NM_018136.4(ASPM):c.5467C>T (p.Gln1823Ter) http://identifiers.org/clinvar/375522 ^@ NM_014191.3(SCN8A):c.2932A>G (p.Ser978Gly) http://identifiers.org/clinvar/375581 ^@ NM_001733.4(C1R):c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) http://identifiers.org/clinvar/375639 ^@ NM_001198903.1(YY1AP1):c.2390T>A (p.Leu797Ter) http://identifiers.org/clinvar/375784 ^@ NM_000527.4(LDLR):c.442_504del63 (p.Cys148_Asp168del) http://identifiers.org/clinvar/375834 ^@ NM_000527.4(LDLR):c.2134dupC (p.Leu712Profs) http://identifiers.org/clinvar/375887 ^@ NM_004304.4(ALK):c.3521T>G (p.Phe1174Cys) http://identifiers.org/clinvar/375937 ^@ NM_000125.3(ESR1):c.1607T>G (p.Leu536Arg) http://identifiers.org/clinvar/392669 ^@ NM_005911.5(MAT2A):c.-35C>G http://identifiers.org/clinvar/390630 ^@ NM_000384.2(APOB):c.3507T>C (p.Tyr1169=) http://identifiers.org/clinvar/380595 ^@ NM_000532.4(PCCB):c.872G>A (p.Cys291Tyr) http://identifiers.org/clinvar/384992 ^@ NM_020166.4(MCCC1):c.945T>C (p.Tyr315=) http://identifiers.org/clinvar/379004 ^@ NM_198056.2(SCN5A):c.6006C>T (p.Ala2002=) http://identifiers.org/clinvar/378096 ^@ NM_133259.3(LRPPRC):c.864+11T>G http://identifiers.org/clinvar/380194 ^@ NM_178862.2(STT3B):c.777+7T>G http://identifiers.org/clinvar/392969 ^@ NM_000251.2(MSH2):c.-13A>T http://identifiers.org/clinvar/387031 ^@ NM_198056.2(SCN5A):c.3663G>A (p.Ala1221=) http://identifiers.org/clinvar/378246 ^@ NM_199069.1(NDUFAF3):c.255G>A (p.Ser85=) http://identifiers.org/clinvar/384441 ^@ NM_001148.4(ANK2):c.1086C>G (p.Thr362=) http://identifiers.org/clinvar/390830 ^@ NM_003494.3(DYSF):c.1224C>T (p.Phe408=) http://identifiers.org/clinvar/391869 ^@ NM_016599.4(MYOZ2):c.344G>A (p.Arg115Gln) http://identifiers.org/clinvar/380796 ^@ NM_024582.4(FAT4):c.7781T>C (p.Leu2594Ser) http://identifiers.org/clinvar/379204 ^@ NM_022912.2(REEP1):c.381C>T (p.Asn127=) http://identifiers.org/clinvar/378501 ^@ NM_005506.3(SCARB2):c.275+20T>C http://identifiers.org/clinvar/384542 ^@ NM_001025616.2(ARHGAP24):c.1916G>A (p.Ser639Asn) http://identifiers.org/clinvar/378954 ^@ NM_000038.5(APC):c.5232A>G (p.Lys1744=) http://identifiers.org/clinvar/392269 ^@ NM_001184.3(ATR):c.5900G>A (p.Gly1967Asp) http://identifiers.org/clinvar/383240 ^@ NM_021911.2(GABRB2):c.1349G>A (p.Ser450Asn) http://identifiers.org/clinvar/390930 ^@ NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) http://identifiers.org/clinvar/386231 ^@ NM_024577.3(SH3TC2):c.1329G>A (p.Glu443=) http://identifiers.org/clinvar/378146 ^@ NM_000249.3(MLH1):c.2103+18A>G http://identifiers.org/clinvar/382989 ^@ NM_002454.2(MTRR):c.144C>T (p.Thr48=) http://identifiers.org/clinvar/391130 ^@ NM_007255.2(B4GALT7):c.723+20G>A http://identifiers.org/clinvar/383340 ^@ NM_032119.3(ADGRV1):c.11941-4A>G http://identifiers.org/clinvar/382789 ^@ NM_004553.4(NDUFS6):c.96C>A (p.Val32=) http://identifiers.org/clinvar/392069 ^@ NM_004415.3(DSP):c.2858T>C (p.Leu953Pro) http://identifiers.org/clinvar/392619 ^@ NM_138694.3(PKHD1):c.9998G>A (p.Arg3333Lys) http://identifiers.org/clinvar/382889 ^@ NM_178014.3(TUBB):c.1309G>A (p.Gly437Ser) http://identifiers.org/clinvar/383089 ^@ NM_001069.2(TUBB2A):c.609T>C (p.Asp203=) http://identifiers.org/clinvar/392519 ^@ NM_080680.2(COL11A2):c.1284+15T>C http://identifiers.org/clinvar/383139 ^@ NM_000535.6(PMS2):c.538-19G>C http://identifiers.org/clinvar/383189 ^@ NM_005631.4(SMO):c.1248C>G (p.Gly416=) http://identifiers.org/clinvar/380545 ^@ NM_000038.5(APC):c.834+20A>G http://identifiers.org/clinvar/392019 ^@ NM_014141.5(CNTNAP2):c.268G>C (p.Gly90Arg) http://identifiers.org/clinvar/384491 ^@ NM_000445.4(PLEC):c.346-16C>G http://identifiers.org/clinvar/379154 ^@ NM_000535.6(PMS2):c.23+7G>T http://identifiers.org/clinvar/386881 ^@ NM_153033.4(KCTD7):c.*1154T>C http://identifiers.org/clinvar/384742 ^@ NM_004456.4(EZH2):c.1506-19T>G http://identifiers.org/clinvar/390430 ^@ NM_002653.4(PITX1):c.170-2A>G http://identifiers.org/clinvar/384391 ^@ NM_001130438.2(SPTAN1):c.3816A>G (p.Gln1272=) http://identifiers.org/clinvar/379054 ^@ NM_000742.3(CHRNA2):c.*8T>C http://identifiers.org/clinvar/384692 ^@ NM_017617.4(NOTCH1):c.852G>A (p.Pro284=) http://identifiers.org/clinvar/391919 ^@ NM_007327.3(GRIN1):c.696C>T (p.Tyr232=) http://identifiers.org/clinvar/384942 ^@ NM_001130438.2(SPTAN1):c.505-20C>T http://identifiers.org/clinvar/384141 ^@ NM_032634.3(PIGO):c.655+7A>C http://identifiers.org/clinvar/383590 ^@ NM_000136.2(FANCC):c.1095C>G (p.Leu365=) http://identifiers.org/clinvar/386731 ^@ NM_020822.2(KCNT1):c.1461C>T (p.Leu487=) http://identifiers.org/clinvar/386181 ^@ NM_020822.2(KCNT1):c.2236G>A (p.Val746Met) http://identifiers.org/clinvar/133436 ^@ NM_007313.2(ABL1):c.1793C>T (p.Pro598Leu) http://identifiers.org/clinvar/134484 ^@ NM_001077490.2(GNAS):c.441G>C (p.Arg147Ser) http://identifiers.org/clinvar/134534 ^@ NM_002185.3(IL7R):c.1231A>G (p.Thr411Ala) http://identifiers.org/clinvar/134584 ^@ NM_000215.3(JAK3):c.1142C>A (p.Thr381Asn) http://identifiers.org/clinvar/134634 ^@ NM_001300.5(KLF6):c.493G>A (p.Val165Met) http://identifiers.org/clinvar/134686 ^@ NM_003482.3(KMT2D):c.6319C>A (p.Pro2107Thr) http://identifiers.org/clinvar/134737 ^@ NM_170606.2(KMT2C):c.1402C>A (p.Pro468Thr) http://identifiers.org/clinvar/134787 ^@ NM_170606.2(KMT2C):c.10403C>T (p.Pro3468Leu) http://identifiers.org/clinvar/134838 ^@ NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) http://identifiers.org/clinvar/134891 ^@ NM_001042492.2(NF1):c.8515G>A (p.Val2839Met) http://identifiers.org/clinvar/134941 ^@ NM_017617.4(NOTCH1):c.5015G>A (p.Arg1672His) http://identifiers.org/clinvar/134991 ^@ NM_002524.4(NRAS):c.504G>C (p.Met168Ile) http://identifiers.org/clinvar/135041 ^@ NM_000534.4(PMS1):c.174_175delGGinsTA (p.Glu59Lys) http://identifiers.org/clinvar/135092 ^@ NM_002734.4(PRKAR1A):c.530T>C (p.Ile177Thr) http://identifiers.org/clinvar/135143 ^@ NM_004260.3(RECQL4):c.2935G>A (p.Gly979Arg) http://identifiers.org/clinvar/135526 ^@ NM_000400.3(ERCC2):c.1119-57dupT http://identifiers.org/clinvar/135590 ^@ NM_002136.3(HNRNPA1):c.755G>A (p.Ser252Asn) http://identifiers.org/clinvar/135652 ^@ NM_080916.2(DGUOK):c.287T>C (p.Leu96Pro) http://identifiers.org/clinvar/135711 ^@ NM_000038.5(APC):c.6135C>T (p.Ser2045=) http://identifiers.org/clinvar/135763 ^@ NM_000051.3(ATM):c.591A>T (p.Gly197=) http://identifiers.org/clinvar/135821 ^@ NM_000059.3(BRCA2):c.9872C>G (p.Ser3291Cys) http://identifiers.org/clinvar/135871 ^@ NM_000264.3(PTCH1):c.134C>G (p.Pro45Arg) http://identifiers.org/clinvar/135921 ^@ NM_000455.4(STK11):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/135972 ^@ NM_001127500.2(MET):c.585C>T (p.Phe195=) http://identifiers.org/clinvar/187617 ^@ NM_007294.3(BRCA1):c.5022C>T (p.Ile1674=) http://identifiers.org/clinvar/183815 ^@ NM_000455.4(STK11):c.432G>A (p.Pro144=) http://identifiers.org/clinvar/187771 ^@ NM_052867.2(NALCN):c.530A>C (p.Gln177Pro) http://identifiers.org/clinvar/187828 ^@ NM_001174080.1(CACNA1A):c.2868delT (p.Arg957Aspfs) http://identifiers.org/clinvar/187900 ^@ NM_005957.4(MTHFR):c.1752+1G>T http://identifiers.org/clinvar/187950 ^@ NM_004409.4(DMPK):c.*224_*226[264] http://identifiers.org/clinvar/188000 ^@ NM_004409.4(DMPK):c.*224_*226[539] http://identifiers.org/clinvar/188050 ^@ NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del http://identifiers.org/clinvar/188255 ^@ NM_002354.2(EPCAM):c.93C>G (p.Asn31Lys) http://identifiers.org/clinvar/188152 ^@ NM_002354.2(EPCAM):c.392C>A (p.Thr131Asn) http://identifiers.org/clinvar/188101 ^@ NM_000051.3(ATM):c.8851-?_*(1_?)del http://identifiers.org/clinvar/188308 ^@ NM_024675.3(PALB2):c.2671T>A (p.Cys891Ser) http://identifiers.org/clinvar/188362 ^@ NM_000135.2(FANCA):c.97delG (p.Glu33Lysfs) http://identifiers.org/clinvar/188203 ^@ NM_032043.2(BRIP1):c.2828T>C (p.Val943Ala) http://identifiers.org/clinvar/188470 ^@ NM_004415.3(DSP):c.6039_8538del2500 (p.Gly2014Glufs) http://identifiers.org/clinvar/188570 ^@ NM_000256.3(MYBPC3):c.2737+13G>A http://identifiers.org/clinvar/188520 ^@ NM_000256.3(MYBPC3):c.103C>A (p.Arg35=) http://identifiers.org/clinvar/188620 ^@ NM_000257.3(MYH7):c.2923-18G>A http://identifiers.org/clinvar/188420 ^@ NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?) http://identifiers.org/clinvar/188670 ^@ NM_000363.4(TNNI3):c.151-8C>T http://identifiers.org/clinvar/188871 ^@ NM_000110.3(DPYD):c.2043_2058del16 (p.Leu682Ilefs) http://identifiers.org/clinvar/188820 ^@ NM_006261.4(PROP1):c.152G>C (p.Gly51Ala) http://identifiers.org/clinvar/188770 ^@ NM_017890.4(VPS13B):c.11906_11916delCCAGCTGTTCTinsG (p.Pro3969Argfs) http://identifiers.org/clinvar/188720 ^@ NM_002225.3(IVD):c.466-2A>G http://identifiers.org/clinvar/188921 ^@ NM_000159.3(GCDH):c.416C>T (p.Ser139Leu) http://identifiers.org/clinvar/189751 ^@ NM_001110792.1(MECP2):c.1191_1202delCCTGCCCCCACC (p.Leu398_Pro401del) http://identifiers.org/clinvar/189701 ^@ NM_001110792.1(MECP2):c.354_357dupGAAG (p.Leu120Glufs) http://identifiers.org/clinvar/189834 ^@ NM_015929.3(LIPT1):c.535A>G (p.Thr179Ala) http://identifiers.org/clinvar/189985 ^@ NM_001165963.1(SCN1A):c.3880-2A>G http://identifiers.org/clinvar/189885 ^@ NM_001165963.1(SCN1A):c.3477delC (p.Ile1159Metfs) http://identifiers.org/clinvar/189935 ^@ NM_001165963.1(SCN1A):c.2946+1G>T http://identifiers.org/clinvar/190036 ^@ NM_031271.3(TEX15):c.2130T>G (p.Tyr710Ter) http://identifiers.org/clinvar/190354 ^@ NM_002055.4(GFAP):c.1051G>C (p.Asp351His) http://identifiers.org/clinvar/227246 ^@ NM_000492.3(CFTR):c.3180A>G (p.Lys1060=) http://identifiers.org/clinvar/227877 ^@ NM_016203.3(PRKAG2):c.1452G>A (p.Glu484=) http://identifiers.org/clinvar/227045 ^@ NM_002839.3(PTPRD):c.5534+7_5534+8insAGTTACAGTTCAAGAATGGTAAGTT http://identifiers.org/clinvar/228277 ^@ NM_017433.4(MYO3A):c.4545+1G>C http://identifiers.org/clinvar/228327 ^@ NM_052836.3(CDH23):c.1450G>T (p.Val484Leu) http://identifiers.org/clinvar/227496 ^@ NM_007078.2(LDB3):c.1167C>T (p.Ala389=) http://identifiers.org/clinvar/227095 ^@ NM_005422.2(TECTA):c.625-4G>T http://identifiers.org/clinvar/227776 ^@ NM_001277269.1(OTOG):c.4038C>T (p.Phe1346=) http://identifiers.org/clinvar/226894 ^@ NM_001277269.1(OTOG):c.4642C>T (p.Leu1548Phe) http://identifiers.org/clinvar/226794 ^@ NM_005379.3(MYO1A):c.682C>G (p.Leu228Val) http://identifiers.org/clinvar/226944 ^@ NM_173591.3(OTOGL):c.3702G>A (p.Pro1234=) http://identifiers.org/clinvar/227826 ^@ NM_173591.3(OTOGL):c.6855C>T (p.Asp2285=) http://identifiers.org/clinvar/228427 ^@ NM_005159.4(ACTC1):c.1084C>T (p.Gln362Ter) http://identifiers.org/clinvar/226744 ^@ NM_002474.2(MYH11):c.5172-5C>T http://identifiers.org/clinvar/227977 ^@ NM_001199107.1(TBC1D24):c.1302+14A>C http://identifiers.org/clinvar/228477 ^@ NM_017950.3(CCDC40):c.461G>A (p.Arg154Lys) http://identifiers.org/clinvar/228627 ^@ NM_001943.4(DSG2):c.308T>C (p.Val103Ala) http://identifiers.org/clinvar/227576 ^@ NM_001145809.1(MYH14):c.2145C>T (p.Tyr715=) http://identifiers.org/clinvar/227626 ^@ NM_033118.3(MYLK2):c.1683G>A (p.Lys561=) http://identifiers.org/clinvar/229366 ^@ NM_001039141.2(TRIOBP):c.6205G>A (p.Glu2069Lys) http://identifiers.org/clinvar/227446 ^@ NM_002230.2(JUP):c.1054+7A>T http://identifiers.org/clinvar/228377 ^@ NM_000260.3(MYO7A):c.2115C>A (p.Cys705Ter) http://identifiers.org/clinvar/234390 ^@ NM_000535.6(PMS2):c.758A>C (p.Glu253Ala) http://identifiers.org/clinvar/234281 ^@ NM_032043.2(BRIP1):c.2990_2993delCAAA (p.Thr997Argfs) http://identifiers.org/clinvar/234333 ^@ NM_014646.2(LPIN2):c.1375C>G (p.Leu459Val) http://identifiers.org/clinvar/234453 ^@ NM_007194.3(CHEK2):c.34T>A (p.Ser12Thr) http://identifiers.org/clinvar/230118 ^@ NM_003001.3(SDHC):c.191C>T (p.Pro64Leu) http://identifiers.org/clinvar/230018 ^@ NM_001128425.1(MUTYH):c.1100C>G (p.Pro367Arg) http://identifiers.org/clinvar/234021 ^@ NM_000251.2(MSH2):c.1943T>A (p.Ile648Asn) http://identifiers.org/clinvar/229968 ^@ NM_000179.2(MSH6):c.249T>G (p.Ala83=) http://identifiers.org/clinvar/230518 ^@ NM_000179.2(MSH6):c.972A>C (p.Lys324Asn) http://identifiers.org/clinvar/233770 ^@ NM_000179.2(MSH6):c.2645_2653delTTAAGTCTA (p.Phe882_Thr1219delinsTer) http://identifiers.org/clinvar/231018 ^@ NM_000179.2(MSH6):c.2745C>G (p.Ala915=) http://identifiers.org/clinvar/231068 ^@ NM_000249.3(MLH1):c.565G>A (p.Gly189Ser) http://identifiers.org/clinvar/263338 ^@ NM_005902.3(SMAD3):c.1154G>C (p.Arg385Thr) http://identifiers.org/clinvar/263440 ^@ NM_004006.2(DMD):c.3360G>A (p.Glu1120=) http://identifiers.org/clinvar/265690 ^@ NM_000368.4(TSC1):c.2487_2490delTCAG (p.Ser829Argfs) http://identifiers.org/clinvar/265776 ^@ NM_138927.2(SON):c.4640delA (p.His1547Leufs) http://identifiers.org/clinvar/265929 ^@ NM_174936.3(PCSK9):c.657+114C>A http://identifiers.org/clinvar/265879 ^@ NM_000384.2(APOB):c.1352+60C>A http://identifiers.org/clinvar/265984 ^@ NM_201253.2(CRB1):c.1043G>A (p.Cys348Tyr) http://identifiers.org/clinvar/266035 ^@ NM_001013838.1(CARMIL2):c.490dupG (p.Ala164Glyfs) http://identifiers.org/clinvar/266111 ^@ NM_000132.3(F8):c.4767_4768insATAACCAA (p.Tyr1590Ilefs) http://identifiers.org/clinvar/266611 ^@ NM_000059.3(BRCA2):c.110C>G (p.Ser37Ter) http://identifiers.org/clinvar/266811 ^@ NM_000059.3(BRCA2):c.441delA (p.Gln147Hisfs) http://identifiers.org/clinvar/267011 ^@ NM_000059.3(BRCA2):c.743delC (p.Ala248Valfs) http://identifiers.org/clinvar/266661 ^@ NM_000059.3(BRCA2):c.1798_1802delTATAA (p.Tyr600Argfs) http://identifiers.org/clinvar/266711 ^@ NM_000059.3(BRCA2):c.2593G>T (p.Glu865Ter) http://identifiers.org/clinvar/266761 ^@ NM_000059.3(BRCA2):c.3603delC (p.Asn1201Lysfs) http://identifiers.org/clinvar/266861 ^@ NM_000059.3(BRCA2):c.5216dupA (p.Tyr1739Terfs) http://identifiers.org/clinvar/266911 ^@ NM_000059.3(BRCA2):c.5985_5986insA (p.Ala1996Serfs) http://identifiers.org/clinvar/266961 ^@ NM_000059.3(BRCA2):c.6541G>T (p.Gly2181Ter) http://identifiers.org/clinvar/267061 ^@ NM_000059.3(BRCA2):c.8238_8241delAGTT (p.Gly2748Argfs) http://identifiers.org/clinvar/266561 ^@ NM_007294.3(BRCA1):c.5537_5556del20 (p.Gln1846Leufs) http://identifiers.org/clinvar/266511 ^@ NM_007294.3(BRCA1):c.5026_5027delTT (p.Leu1676Asnfs) http://identifiers.org/clinvar/266461 ^@ NM_007294.3(BRCA1):c.4225C>T (p.Gln1409Ter) http://identifiers.org/clinvar/266361 ^@ NM_007294.3(BRCA1):c.3373dupT (p.Ser1125Phefs) http://identifiers.org/clinvar/266311 ^@ NM_007294.3(BRCA1):c.2861dupT (p.Ser955Ilefs) http://identifiers.org/clinvar/266261 ^@ NM_007294.3(BRCA1):c.2418dupA (p.Ala807Serfs) http://identifiers.org/clinvar/266211 ^@ NM_007294.3(BRCA1):c.2068A>T (p.Lys690Ter) http://identifiers.org/clinvar/266161 ^@ NM_007294.3(BRCA1):c.1375A>T (p.Lys459Ter) http://identifiers.org/clinvar/266411 ^@ NM_007294.3(BRCA1):c.385_386delGGinsC (p.Gly129Profs) http://identifiers.org/clinvar/268037 ^@ 46;XY;t(2;14)(p22;q24.3)dn http://identifiers.org/clinvar/268101 ^@ NM_006578.3(GNB5):c.249+3A>G http://identifiers.org/clinvar/268166 ^@ NM_005993.4(TBCD):c.1564-12C>G http://identifiers.org/clinvar/280108 ^@ NM_020699.3(GATAD2B):c.1217-2A>G http://identifiers.org/clinvar/290940 ^@ NM_004006.2(DMD):c.514C>G (p.Leu172Val) http://identifiers.org/clinvar/290990 ^@ NM_002693.2(POLG):c.501G>A (p.Pro167=) http://identifiers.org/clinvar/291040 ^@ NM_004006.2(DMD):c.10879A>G (p.Met3627Val) http://identifiers.org/clinvar/291090 ^@ NM_023073.3(C5orf42):c.3295A>G (p.Ile1099Val) http://identifiers.org/clinvar/291140 ^@ NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) http://identifiers.org/clinvar/291191 ^@ NM_001080522.2(CC2D2A):c.1691C>T (p.Thr564Met) http://identifiers.org/clinvar/291241 ^@ NM_001127464.2(ZNF469):c.10616G>A (p.Gly3539Glu) http://identifiers.org/clinvar/291291 ^@ NM_015102.4(NPHP4):c.868G>T (p.Gly290Cys) http://identifiers.org/clinvar/291406 ^@ NM_001918.3(DBT):c.*5317T>C http://identifiers.org/clinvar/291456 ^@ NM_001918.3(DBT):c.291C>T (p.Ser97=) http://identifiers.org/clinvar/291506 ^@ NM_001854.3(COL11A1):c.4140+13delT http://identifiers.org/clinvar/291556 ^@ NM_001854.3(COL11A1):c.-78T>A http://identifiers.org/clinvar/291648 ^@ NM_015074.3(KIF1B):c.*3716C>T http://identifiers.org/clinvar/291748 ^@ NM_007375.3(TARDBP):c.*862G>T http://identifiers.org/clinvar/291698 ^@ NM_013296.4(GPSM2):c.-258C>T http://identifiers.org/clinvar/291798 ^@ NM_006610.3(MASP2):c.612G>A (p.Pro204=) http://identifiers.org/clinvar/292148 ^@ NM_005957.4(MTHFR):c.*4900C>T http://identifiers.org/clinvar/291848 ^@ NM_003051.3(SLC16A1):c.*135_*136insTTT http://identifiers.org/clinvar/291898 ^@ NM_013319.2(UBIAD1):c.*1494A>G http://identifiers.org/clinvar/292448 ^@ NM_005266.6(GJA5):c.995G>A (p.Arg332His) http://identifiers.org/clinvar/291998 ^@ NM_138959.2(VANGL1):c.-224C>A http://identifiers.org/clinvar/291948 ^@ NM_002524.4(NRAS):c.*2844T>A http://identifiers.org/clinvar/292648 ^@ NM_152263.3(TPM3):c.*3860C>T http://identifiers.org/clinvar/292098 ^@ NM_138959.2(VANGL1):c.*5862G>A http://identifiers.org/clinvar/292348 ^@ NM_005518.3(HMGCS2):c.-36T>G http://identifiers.org/clinvar/292398 ^@ NM_014874.3(MFN2):c.*1100A>G http://identifiers.org/clinvar/292048 ^@ NM_138959.2(VANGL1):c.*2116A>T http://identifiers.org/clinvar/292198 ^@ NM_005957.4(MTHFR):c.*2301C>T http://identifiers.org/clinvar/292248 ^@ NM_005957.4(MTHFR):c.-69_-63delGCGGCCA http://identifiers.org/clinvar/292298 ^@ NM_006623.3(PHGDH):c.-183G>A http://identifiers.org/clinvar/292548 ^@ NM_019032.5(ADAMTSL4):c.2265G>T (p.Gly755=) http://identifiers.org/clinvar/292598 ^@ NM_000449.3(RFX5):c.*1078C>T http://identifiers.org/clinvar/292698 ^@ NM_152263.3(TPM3):c.327T>G (p.Thr109=) http://identifiers.org/clinvar/292748 ^@ NM_001111.4(ADAR):c.*368G>A http://identifiers.org/clinvar/293737 ^@ NM_000639.2(FASLG):c.395-15C>G http://identifiers.org/clinvar/292798 ^@ NM_000298.5(PKLR):c.*351T>A http://identifiers.org/clinvar/292848 ^@ NM_022367.3(SEMA4A):c.810+7G>A http://identifiers.org/clinvar/292898 ^@ NM_001012331.1(NTRK1):c.2281G>C (p.Glu761Gln) http://identifiers.org/clinvar/294037 ^@ NM_005562.2(LAMC2):c.*928A>G http://identifiers.org/clinvar/294287 ^@ NM_031935.2(HMCN1):c.15283G>A (p.Gly5095Arg) http://identifiers.org/clinvar/294387 ^@ NM_003748.3(ALDH4A1):c.490G>C (p.Ala164Pro) http://identifiers.org/clinvar/293587 ^@ NM_000130.4(F5):c.5308G>A (p.Val1770Ile) http://identifiers.org/clinvar/293637 ^@ NM_000130.4(F5):c.564G>C (p.Gly188=) http://identifiers.org/clinvar/294737 ^@ NM_000069.2(CACNA1S):c.2877C>T (p.Asp959=) http://identifiers.org/clinvar/293787 ^@ NM_022089.3(ATP13A2):c.1926G>A (p.Ala642=) http://identifiers.org/clinvar/294787 ^@ NM_000069.2(CACNA1S):c.-60A>G http://identifiers.org/clinvar/293687 ^@ NM_006894.5(FMO3):c.245T>C (p.Met82Thr) http://identifiers.org/clinvar/294837 ^@ NM_001005337.2(PKP1):c.*222G>A http://identifiers.org/clinvar/293837 ^@ NM_000488.3(SERPINC1):c.1054A>G (p.Met352Val) http://identifiers.org/clinvar/293887 ^@ NM_002065.6(GLUL):c.*2494G>T http://identifiers.org/clinvar/343329 ^@ NM_014382.3(ATP2C1):c.1840-12G>A http://identifiers.org/clinvar/343629 ^@ NM_001184.3(ATR):c.152-9T>C http://identifiers.org/clinvar/336660 ^@ NM_002618.3(PEX13):c.-68C>T http://identifiers.org/clinvar/343979 ^@ NM_020800.2(IFT80):c.483G>T (p.Lys161Asn) http://identifiers.org/clinvar/345118 ^@ NM_198056.2(SCN5A):c.3391-7T>C http://identifiers.org/clinvar/345218 ^@ NM_016006.4(ABHD5):c.345T>C (p.Ser115=) http://identifiers.org/clinvar/336710 ^@ NM_032180.2(FAM161A):c.*1507G>C http://identifiers.org/clinvar/345318 ^@ NM_182760.3(SUMF1):c.602+13C>T http://identifiers.org/clinvar/336760 ^@ NM_015910.5(WDPCP):c.2113G>T (p.Asp705Tyr) http://identifiers.org/clinvar/336810 ^@ NM_002056.3(GFPT1):c.*3805delA http://identifiers.org/clinvar/336860 ^@ NM_002056.3(GFPT1):c.*689A>G http://identifiers.org/clinvar/345468 ^@ NM_024513.3(FYCO1):c.*1445C>T http://identifiers.org/clinvar/345718 ^@ NM_002222.5(ITPR1):c.2808C>T (p.Ala936=) http://identifiers.org/clinvar/345768 ^@ NM_033629.4(TREX1):c.-100C>T http://identifiers.org/clinvar/345068 ^@ NM_198056.2(SCN5A):c.*1731G>C http://identifiers.org/clinvar/337499 ^@ NM_017849.3(TMEM127):c.*57C>T http://identifiers.org/clinvar/345168 ^@ NM_018075.4(ANO10):c.*368C>T http://identifiers.org/clinvar/337549 ^@ NM_014014.4(SNRNP200):c.3258+12G>A http://identifiers.org/clinvar/345518 ^@ NM_024513.3(FYCO1):c.1887C>T (p.Val629=) http://identifiers.org/clinvar/345618 ^@ NM_015175.2(NBEAL2):c.634G>A (p.Gly212Arg) http://identifiers.org/clinvar/345668 ^@ NM_015175.2(NBEAL2):c.4789G>A (p.Ala1597Thr) http://identifiers.org/clinvar/346018 ^@ NM_002292.3(LAMB2):c.-241T>C http://identifiers.org/clinvar/342729 ^@ NM_020754.3(ARHGAP31):c.*2935C>T http://identifiers.org/clinvar/342829 ^@ NM_053025.3(MYLK):c.*1526C>A http://identifiers.org/clinvar/342979 ^@ NM_000373.3(UMPS):c.*2671T>G http://identifiers.org/clinvar/342879 ^@ NM_053025.3(MYLK):c.3900G>A (p.Ala1300=) http://identifiers.org/clinvar/346218 ^@ NM_003392.4(WNT5A):c.*3473T>G http://identifiers.org/clinvar/342929 ^@ NM_000373.3(UMPS):c.827G>A (p.Ser276Asn) http://identifiers.org/clinvar/343579 ^@ NM_004628.4(XPC):c.134A>G (p.Lys45Arg) http://identifiers.org/clinvar/343379 ^@ NM_153240.4(NPHP3):c.3009T>C (p.Asn1003=) http://identifiers.org/clinvar/343429 ^@ NM_001063.3(TF):c.333G>A (p.Gln111=) http://identifiers.org/clinvar/343529 ^@ NM_024334.2(TMEM43):c.*1054_*1058delTAAAG http://identifiers.org/clinvar/358174 ^@ NM_183050.3(BCKDHB):c.*121G>A http://identifiers.org/clinvar/358274 ^@ NM_014165.3(NDUFAF4):c.184C>T (p.Leu62=) http://identifiers.org/clinvar/353795 ^@ NM_002203.3(ITGA2):c.*613C>T http://identifiers.org/clinvar/358324 ^@ NM_000602.4(SERPINE1):c.*950C>T http://identifiers.org/clinvar/353895 ^@ NM_006308.2(HSPB3):c.-129C>T http://identifiers.org/clinvar/353945 ^@ NM_001104631.1(PDE4D):c.*2329G>A http://identifiers.org/clinvar/353995 ^@ NM_001104631.1(PDE4D):c.1053G>A (p.Gln351=) http://identifiers.org/clinvar/354095 ^@ NM_001038603.2(MARVELD2):c.1491G>A (p.Ser497=) http://identifiers.org/clinvar/358624 ^@ NM_014491.3(FOXP2):c.*260dupA http://identifiers.org/clinvar/358674 ^@ NM_014491.3(FOXP2):c.*3736C>A http://identifiers.org/clinvar/358774 ^@ NM_006193.2(PAX4):c.*669_*670delAT http://identifiers.org/clinvar/358824 ^@ NM_000230.2(LEP):c.*300C>T http://identifiers.org/clinvar/355034 ^@ NM_014845.5(FIG4):c.235G>A (p.Gly79Arg) http://identifiers.org/clinvar/355135 ^@ NM_002667.4(PLN):c.-120C>T http://identifiers.org/clinvar/363672 ^@ NM_000503.5(EYA1):c.-242T>G http://identifiers.org/clinvar/363772 ^@ NM_000318.2(PEX2):c.*2663T>A http://identifiers.org/clinvar/355485 ^@ NM_017651.4(AHI1):c.*793A>G http://identifiers.org/clinvar/363872 ^@ NM_019098.4(CNGB3):c.1531G>A (p.Ala511Thr) http://identifiers.org/clinvar/355585 ^@ NM_003630.2(PEX3):c.*546A>G http://identifiers.org/clinvar/363972 ^@ NM_018444.3(PDP1):c.*1799G>C http://identifiers.org/clinvar/364022 ^@ NM_001001557.3(GDF6):c.*577A>T http://identifiers.org/clinvar/355385 ^@ NM_006208.2(ENPP1):c.*1256dupT http://identifiers.org/clinvar/355635 ^@ NM_003764.3(STX11):c.*2298C>T http://identifiers.org/clinvar/355535 ^@ NM_000288.3(PEX7):c.804-5C>T http://identifiers.org/clinvar/355835 ^@ NM_033071.3(SYNE1):c.20940T>C (p.Ile6980=) http://identifiers.org/clinvar/355885 ^@ NM_033071.3(SYNE1):c.11536-15dupT http://identifiers.org/clinvar/355685 ^@ NM_203395.2(IYD):c.*181A>G http://identifiers.org/clinvar/355785 ^@ NM_203395.2(IYD):c.*5941C>T http://identifiers.org/clinvar/364772 ^@ NM_018249.5(CDK5RAP2):c.1727+15C>G http://identifiers.org/clinvar/364822 ^@ NM_000177.4(GSN):c.1730G>A (p.Arg577Gln) http://identifiers.org/clinvar/356185 ^@ NM_001080.3(ALDH5A1):c.*2766G>A http://identifiers.org/clinvar/364922 ^@ NM_002316.3(LMX1B):c.*1437_*1441dupTGTTT http://identifiers.org/clinvar/355935 ^@ NM_033071.3(SYNE1):c.2318T>C (p.Ile773Thr) http://identifiers.org/clinvar/356235 ^@ NM_000434.3(NEU1):c.122C>A (p.Ala41Glu) http://identifiers.org/clinvar/356035 ^@ NM_003730.4(RNASET2):c.325C>A (p.Arg109Ser) http://identifiers.org/clinvar/356335 ^@ NM_006929.4(SKIV2L):c.2203-12A>G http://identifiers.org/clinvar/361223 ^@ NM_178857.5(RP1L1):c.6418G>A (p.Glu2140Lys) http://identifiers.org/clinvar/356835 ^@ NM_014780.4(CUL7):c.2767-14C>T http://identifiers.org/clinvar/365761 ^@ NM_000093.4(COL5A1):c.*865dupT http://identifiers.org/clinvar/361583 ^@ NM_014112.4(TRPS1):c.*1981T>G http://identifiers.org/clinvar/366012 ^@ NM_024757.4(EHMT1):c.2127C>T (p.Pro709=) http://identifiers.org/clinvar/361783 ^@ NM_004519.3(KCNQ3):c.*5965T>C http://identifiers.org/clinvar/366212 ^@ NM_003070.4(SMARCA2):c.2452C>T (p.Leu818=) http://identifiers.org/clinvar/366662 ^@ NM_001497.3(B4GALT1):c.392C>T (p.Pro131Leu) http://identifiers.org/clinvar/303514 ^@ NM_016952.4(CDON):c.1665G>A (p.Pro555=) http://identifiers.org/clinvar/367541 ^@ NM_006415.3(SPTLC1):c.*178T>A http://identifiers.org/clinvar/367012 ^@ NM_001042413.1(GLIS3):c.-344C>T http://identifiers.org/clinvar/364072 ^@ NM_014290.2(TDRD7):c.2039G>T (p.Ser680Ile) http://identifiers.org/clinvar/304153 ^@ NM_213599.2(ANO5):c.*2704A>C http://identifiers.org/clinvar/304253 ^@ NM_000218.2(KCNQ1):c.*581T>C http://identifiers.org/clinvar/304353 ^@ NM_000280.4(PAX6):c.*207G>A http://identifiers.org/clinvar/304653 ^@ NM_021926.3(ALX4):c.*1532G>A http://identifiers.org/clinvar/304703 ^@ NM_021926.3(ALX4):c.778-11G>A http://identifiers.org/clinvar/313601 ^@ NM_182914.2(SYNE2):c.14976+10A>G http://identifiers.org/clinvar/313651 ^@ NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His) http://identifiers.org/clinvar/305003 ^@ NM_000519.3(HBD):c.*59C>G http://identifiers.org/clinvar/305105 ^@ NM_017841.2(SDHAF2):c.*456A>G http://identifiers.org/clinvar/314101 ^@ NM_031427.3(DNAL1):c.*5318C>A http://identifiers.org/clinvar/314151 ^@ NM_031427.3(DNAL1):c.*7414_*7419delCAAGCT http://identifiers.org/clinvar/314201 ^@ NM_182894.2(VSX2):c.874G>C (p.Ala292Pro) http://identifiers.org/clinvar/314251 ^@ NM_000428.2(LTBP2):c.*1302G>A http://identifiers.org/clinvar/305405 ^@ NM_001143985.1(BANF1):c.-17+12A>G http://identifiers.org/clinvar/305505 ^@ NM_000391.3(TPP1):c.*44T>A http://identifiers.org/clinvar/314401 ^@ NM_001040108.1(MLH3):c.-204G>A http://identifiers.org/clinvar/314751 ^@ NM_000153.3(GALC):c.1072C>T (p.Leu358=) http://identifiers.org/clinvar/306118 ^@ NM_001235.3(SERPINH1):c.*354G>T http://identifiers.org/clinvar/306469 ^@ NM_005591.3(MRE11):c.*848A>G http://identifiers.org/clinvar/329213 ^@ NM_017827.3(SARS2):c.963-10T>C http://identifiers.org/clinvar/309897 ^@ NM_005379.3(MYO1A):c.2869C>G (p.Leu957Val) http://identifiers.org/clinvar/329663 ^@ NM_025136.3(OPA3):c.*1076A>G http://identifiers.org/clinvar/318132 ^@ NM_001143979.1(NDE1):c.*911_*912dupCA http://identifiers.org/clinvar/329763 ^@ NM_000554.5(CRX):c.*2485C>T http://identifiers.org/clinvar/330063 ^@ NM_002739.4(PRKCG):c.686+14G>T http://identifiers.org/clinvar/318482 ^@ NM_153603.3(COG7):c.838A>G (p.Met280Val) http://identifiers.org/clinvar/330313 ^@ NM_000064.3(C3):c.2048-14_2048-13delAC http://identifiers.org/clinvar/330413 ^@ NM_000208.3(INSR):c.*973dupA http://identifiers.org/clinvar/310497 ^@ NM_024685.3(BBS10):c.198-10T>C http://identifiers.org/clinvar/337699 ^@ NM_018848.3(MKKS):c.-306A>G http://identifiers.org/clinvar/337799 ^@ NM_006363.4(SEC23B):c.2227C>T (p.Pro743Ser) http://identifiers.org/clinvar/337949 ^@ NM_014588.5(VSX1):c.*453delG http://identifiers.org/clinvar/337999 ^@ NM_001042472.2(ABHD12):c.-40_-39insGGCGGAGGC http://identifiers.org/clinvar/319382 ^@ NM_000293.2(PHKB):c.*1001G>A http://identifiers.org/clinvar/338049 ^@ NM_033118.3(MYLK2):c.*84C>T http://identifiers.org/clinvar/338549 ^@ NM_004994.2(MMP9):c.716G>A (p.Arg239His) http://identifiers.org/clinvar/338599 ^@ NM_030777.3(SLC2A10):c.*29C>G http://identifiers.org/clinvar/338699 ^@ NM_006420.2(ARFGEF2):c.4315+5T>G http://identifiers.org/clinvar/321122 ^@ NM_020686.5(ABAT):c.*1515_*1516dupTT http://identifiers.org/clinvar/321022 ^@ NM_001127464.2(ZNF469):c.11023G>A (p.Val3675Met) http://identifiers.org/clinvar/313701 ^@ NM_000347.5(SPTB):c.6269+7G>T http://identifiers.org/clinvar/321222 ^@ NM_000303.2(PMM2):c.*10G>A http://identifiers.org/clinvar/313951 ^@ NM_000021.3(PSEN1):c.*71A>G http://identifiers.org/clinvar/321372 ^@ NM_000135.2(FANCA):c.284-9G>C http://identifiers.org/clinvar/326724 ^@ NM_015559.2(SETBP1):c.141G>A (p.Gly47=) http://identifiers.org/clinvar/326924 ^@ NM_001080467.2(MYO5B):c.*3294_*3295insA http://identifiers.org/clinvar/326974 ^@ NM_001080467.2(MYO5B):c.*1056dupT http://identifiers.org/clinvar/327024 ^@ NM_001080467.2(MYO5B):c.3698G>T (p.Ser1233Ile) http://identifiers.org/clinvar/329063 ^@ NM_000540.2(RYR1):c.7488G>A (p.Pro2496=) http://identifiers.org/clinvar/368430 ^@ NM_007137.3(ZNF81):c.*3399T>A http://identifiers.org/clinvar/329263 ^@ NM_181882.2(PRX):c.2746G>C (p.Gly916Arg) http://identifiers.org/clinvar/327524 ^@ NM_013435.2(RAX):c.*850C>T http://identifiers.org/clinvar/368530 ^@ NM_000084.4(CLCN5):c.*6143C>T http://identifiers.org/clinvar/329313 ^@ NM_003573.2(LTBP4):c.1925C>T (p.Pro642Leu) http://identifiers.org/clinvar/329413 ^@ NM_152296.4(ATP1A3):c.1719C>A (p.Leu573=) http://identifiers.org/clinvar/368730 ^@ NM_153252.4(BRWD3):c.-231_-230dupTC http://identifiers.org/clinvar/329613 ^@ NM_025136.3(OPA3):c.*3972C>T http://identifiers.org/clinvar/327774 ^@ NM_005786.5(TSHZ1):c.-432delG http://identifiers.org/clinvar/327824 ^@ NM_005786.5(TSHZ1):c.1689C>T (p.Gly563=) http://identifiers.org/clinvar/327874 ^@ NM_021074.4(NDUFV2):c.-39G>T http://identifiers.org/clinvar/329813 ^@ NM_002103.4(GYS1):c.1305G>A (p.Thr435=) http://identifiers.org/clinvar/330263 ^@ NM_006087.3(TUBB4A):c.774T>C (p.Val258=) http://identifiers.org/clinvar/328813 ^@ NM_000285.3(PEPD):c.624+15G>A http://identifiers.org/clinvar/328913 ^@ NM_001083961.1(WDR62):c.1521G>A (p.Leu507=) http://identifiers.org/clinvar/337899 ^@ NM_198994.2(TGM6):c.-5T>A http://identifiers.org/clinvar/329113 ^@ NM_000540.2(RYR1):c.12218C>T (p.Ser4073Phe) http://identifiers.org/clinvar/338249 ^@ NM_032034.3(SLC4A11):c.1207G>A (p.Gly403Arg) http://identifiers.org/clinvar/329363 ^@ NM_000709.3(BCKDHA):c.448A>G (p.Asn150Asp) http://identifiers.org/clinvar/338299 ^@ NM_000178.3(GSS):c.834+4G>C http://identifiers.org/clinvar/329463 ^@ NM_000483.4(APOC2):c.*306C>T http://identifiers.org/clinvar/329513 ^@ NM_000400.3(ERCC2):c.1363A>G (p.Ile455Val) http://identifiers.org/clinvar/338449 ^@ NM_000457.4(HNF4A):c.*906A>T http://identifiers.org/clinvar/329563 ^@ NM_025136.3(OPA3):c.*6442A>G http://identifiers.org/clinvar/338649 ^@ NM_000311.4(PRNP):c.252T>C (p.Pro84=) http://identifiers.org/clinvar/329863 ^@ NM_017636.3(TRPM4):c.2358C>T (p.Asn786=) http://identifiers.org/clinvar/330013 ^@ NM_144687.3(NLRP12):c.2748G>A (p.Gln916=) http://identifiers.org/clinvar/330213 ^@ NM_001256714.1(DNAAF3):c.1119G>T (p.Thr373=) http://identifiers.org/clinvar/330363 ^@ NM_000208.3(INSR):c.*3623A>G http://identifiers.org/clinvar/337749 ^@ NM_000214.2(JAG1):c.2590A>G (p.Ile864Val) http://identifiers.org/clinvar/338149 ^@ NM_006892.3(DNMT3B):c.-163A>C http://identifiers.org/clinvar/338349 ^@ NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) http://identifiers.org/clinvar/341290 ^@ NM_000343.3(SLC5A1):c.*1744G>A http://identifiers.org/clinvar/341590 ^@ NM_153609.3(TMPRSS6):c.1096T>C (p.Cys366Arg) http://identifiers.org/clinvar/385981 ^@ NM_001458.4(FLNC):c.2490C>T (p.Thr830=) http://identifiers.org/clinvar/391819 ^@ NM_020987.4(ANK3):c.3376A>G (p.Ile1126Val) http://identifiers.org/clinvar/393019 ^@ NM_007078.2(LDB3):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/386831 ^@ NM_016203.3(PRKAG2):c.946+19A>G http://identifiers.org/clinvar/390530 ^@ NM_000264.3(PTCH1):c.3449+11G>A http://identifiers.org/clinvar/381297 ^@ NM_000051.3(ATM):c.2921+16C>A http://identifiers.org/clinvar/386931 ^@ NM_006415.3(SPTLC1):c.963G>A (p.Arg321=) http://identifiers.org/clinvar/380094 ^@ NM_006077.3(MICU1):c.1078-16G>A http://identifiers.org/clinvar/392169 ^@ NM_002334.3(LRP4):c.636C>T (p.Gly212=) http://identifiers.org/clinvar/392719 ^@ NM_000089.3(COL1A2):c.3303A>G (p.Pro1101=) http://identifiers.org/clinvar/380746 ^@ NM_000314.6(PTEN):c.675T>C (p.Tyr225=) http://identifiers.org/clinvar/390380 ^@ NM_020987.4(ANK3):c.4052T>C (p.Val1351Ala) http://identifiers.org/clinvar/385042 ^@ NM_004329.2(BMPR1A):c.-164C>T http://identifiers.org/clinvar/386531 ^@ NM_006231.3(POLE):c.1360-13G>A http://identifiers.org/clinvar/386081 ^@ NM_006231.3(POLE):c.609T>C (p.Asp203=) http://identifiers.org/clinvar/385292 ^@ NM_000051.3(ATM):c.8010+11A>C http://identifiers.org/clinvar/378346 ^@ NM_003477.2(PDHX):c.526A>G (p.Ile176Val) http://identifiers.org/clinvar/378196 ^@ NM_000256.3(MYBPC3):c.3627+17G>A http://identifiers.org/clinvar/392919 ^@ NM_001197104.1(KMT2A):c.4504C>T (p.Arg1502Ter) http://identifiers.org/clinvar/378652 ^@ NM_001130438.2(SPTAN1):c.1339G>A (p.Glu447Lys) http://identifiers.org/clinvar/378754 ^@ NM_000391.3(TPP1):c.123G>A (p.Ala41=) http://identifiers.org/clinvar/392119 ^@ NM_001876.3(CPT1A):c.967+11C>G http://identifiers.org/clinvar/392569 ^@ NM_001846.3(COL4A2):c.3257C>T (p.Ala1086Val) http://identifiers.org/clinvar/380445 ^@ NM_024537.3(CARS2):c.647G>A (p.Gly216Glu) http://identifiers.org/clinvar/392419 ^@ NM_000059.3(BRCA2):c.8633-14T>C http://identifiers.org/clinvar/385242 ^@ NM_012463.3(ATP6V0A2):c.117+14G>A http://identifiers.org/clinvar/384241 ^@ NM_033087.3(ALG2):c.-39C>G http://identifiers.org/clinvar/383440 ^@ NM_014191.3(SCN8A):c.4873G>T (p.Gly1625Trp) http://identifiers.org/clinvar/386631 ^@ NM_000314.6(PTEN):c.493-4C>T http://identifiers.org/clinvar/380344 ^@ NM_000314.6(PTEN):c.801+15T>C http://identifiers.org/clinvar/391030 ^@ NM_002312.3(LIG4):c.321C>T (p.Leu107=) http://identifiers.org/clinvar/384842 ^@ NM_014985.3(CEP152):c.4589G>C (p.Arg1530Pro) http://identifiers.org/clinvar/380897 ^@ NM_007077.4(AP4S1):c.-77G>A http://identifiers.org/clinvar/383290 ^@ NM_001004127.2(ALG11):c.1257G>A (p.Ser419=) http://identifiers.org/clinvar/392219 ^@ NM_000138.4(FBN1):c.2168-6G>A http://identifiers.org/clinvar/377894 ^@ NM_005249.4(FOXG1):c.1200C>T (p.Tyr400=) http://identifiers.org/clinvar/378702 ^@ NM_001199107.1(TBC1D24):c.408C>T (p.Ala136=) http://identifiers.org/clinvar/386481 ^@ NM_001199107.1(TBC1D24):c.1525+17G>A http://identifiers.org/clinvar/381097 ^@ NM_000138.4(FBN1):c.5297-19A>G http://identifiers.org/clinvar/380947 ^@ NM_002768.4(CHMP1A):c.106-11G>C http://identifiers.org/clinvar/384191 ^@ NM_006231.3(POLE):c.3534C>T (p.Tyr1178=) http://identifiers.org/clinvar/379304 ^@ NM_017775.3(TTC19):c.229C>G (p.Gln77Glu) http://identifiers.org/clinvar/377944 ^@ NM_000834.3(GRIN2B):c.1501-19C>T http://identifiers.org/clinvar/47546 ^@ TTN:c.95035G>A (p.Asp31679Asn) http://identifiers.org/clinvar/47596 ^@ NM_133378.4(TTN):c.90538C>T (p.Arg30180Cys) http://identifiers.org/clinvar/47946 ^@ NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) http://identifiers.org/clinvar/47997 ^@ NM_153676.3(USH1C):c.2340C>T (p.Val780=) http://identifiers.org/clinvar/48048 ^@ NM_005572.3(LMNA):c.1698C>T (p.His566=) http://identifiers.org/clinvar/48098 ^@ NM_170707.3(LMNA):c.992G>A (p.Arg331Gln) http://identifiers.org/clinvar/48148 ^@ NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) http://identifiers.org/clinvar/48198 ^@ NM_194248.2(OTOF):c.2452C>T (p.Arg818Trp) http://identifiers.org/clinvar/48248 ^@ NM_194248.2(OTOF):c.5063C>T (p.Thr1688Met) http://identifiers.org/clinvar/48298 ^@ NM_198056.2(SCN5A):c.3269C>T (p.Pro1090Leu) http://identifiers.org/clinvar/48349 ^@ NM_206933.2(USH2A):c.10517C>T (p.Thr3506Met) http://identifiers.org/clinvar/48399 ^@ NM_206933.2(USH2A):c.12445T>C (p.Trp4149Arg) http://identifiers.org/clinvar/48449 ^@ NM_206933.2(USH2A):c.14911C>T (p.Arg4971Ter) http://identifiers.org/clinvar/48500 ^@ NM_206933.2(USH2A):c.3364T>G (p.Ser1122Ala) http://identifiers.org/clinvar/105 ^@ NM_001029883.2(C2orf71):c.2756_2768delAGCCAGCCCTGGA (p.Lys919Thrfs) http://identifiers.org/clinvar/123 ^@ NM_000071.2(CBS):c.1150A>G (p.Lys384Glu) http://identifiers.org/clinvar/822 ^@ NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) http://identifiers.org/clinvar/1136 ^@ NM_001142617.1(STRA6):c.1931C>T (p.Thr644Met) http://identifiers.org/clinvar/1185 ^@ NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) http://identifiers.org/clinvar/1280 ^@ NM_173660.4(DOK7):c.55-1G>T http://identifiers.org/clinvar/1325 ^@ NM_001042413.1(GLIS3):c.2338dupC (p.Arg780Profs) http://identifiers.org/clinvar/1370 ^@ NM_153704.5(TMEM67):c.1575+1G>A http://identifiers.org/clinvar/1416 ^@ NM_001041.3(SI):c.3686G>A (p.Cys1229Tyr) http://identifiers.org/clinvar/1461 ^@ HMBS, IVS5DS, G-A, +1 http://identifiers.org/clinvar/1506 ^@ NM_000298.5(PKLR):c.487C>T (p.Arg163Cys) http://identifiers.org/clinvar/1789 ^@ NM_000102.3(CYP17A1):c.51G>A (p.Trp17Ter) http://identifiers.org/clinvar/1833 ^@ IQCB1, 4-BP DEL, 825ACAG http://identifiers.org/clinvar/1879 ^@ NM_000255.3(MUT):c.1130C>A (p.Ala377Glu) http://identifiers.org/clinvar/1923 ^@ NM_022132.4(MCCC2):c.499T>C (p.Cys167Arg) http://identifiers.org/clinvar/2689 ^@ NM_015404.3(WHRN):c.2332C>T (p.Arg778Ter) http://identifiers.org/clinvar/2735 ^@ NM_004183.3(BEST1):c.355G>C (p.Glu119Gln) http://identifiers.org/clinvar/2780 ^@ NM_000158.3(GBE1):c.771T>A (p.Phe257Leu) http://identifiers.org/clinvar/2825 ^@ NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter) http://identifiers.org/clinvar/10354 ^@ NG_012280.1:g.(22122_24720)_(45680_?)del http://identifiers.org/clinvar/10403 ^@ NM_000402.4(G6PD):c.185A>G (p.His62Arg) http://identifiers.org/clinvar/10451 ^@ NM_000166.5(GJB1):c.407T>C (p.Val136Ala) http://identifiers.org/clinvar/10545 ^@ NM_006915.2(RP2):c.76C>T (p.Gln26Ter) http://identifiers.org/clinvar/10590 ^@ NM_000133.3(F9):c.676C>T (p.Arg226Trp) http://identifiers.org/clinvar/10635 ^@ F9, EX5-8DEL http://identifiers.org/clinvar/10681 ^@ NM_000266.3(NDP):c.179T>A (p.Val60Glu) http://identifiers.org/clinvar/10726 ^@ NM_000169.2(GLA):c.436C>T (p.Pro146Ser) http://identifiers.org/clinvar/10771 ^@ NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) http://identifiers.org/clinvar/10816 ^@ NM_000444.5(PHEX):c.830T>A (p.Leu277Ter) http://identifiers.org/clinvar/10861 ^@ NM_000276.3(OCRL):c.952C>T (p.Arg318Cys) http://identifiers.org/clinvar/10907 ^@ SH2D1A, EX1DEL http://identifiers.org/clinvar/10952 ^@ NM_000475.4(NR0B1):c.800G>C (p.Arg267Pro) http://identifiers.org/clinvar/10999 ^@ NM_000531.5(OTC):c.829C>T (p.Arg277Trp) http://identifiers.org/clinvar/11042 ^@ EDA, 36-BP DEL, EX5 http://identifiers.org/clinvar/11088 ^@ PLP1, -34C-T, 5-PRIME UTR http://identifiers.org/clinvar/11132 ^@ NM_000377.2(WAS):c.11delG (p.Gly4Alafs) http://identifiers.org/clinvar/11179 ^@ NM_000117.2(EMD):c.547C>A (p.Pro183Thr) http://identifiers.org/clinvar/11223 ^@ DMD, 1-BP DEL, 2568C http://identifiers.org/clinvar/11269 ^@ NM_004006.2(DMD):c.8762A>G (p.His2921Arg) http://identifiers.org/clinvar/11313 ^@ NM_000033.3(ABCD1):c.1849C>T (p.Arg617Cys) http://identifiers.org/clinvar/11404 ^@ NM_015884.3(MBTPS2):c.1286G>A (p.Arg429His) http://identifiers.org/clinvar/11618 ^@ CACNA1F, 1-BP DEL, 4548C http://identifiers.org/clinvar/11668 ^@ RPS6KA3, DUP EXONS 17-20, NT1959 http://identifiers.org/clinvar/11719 ^@ NM_000686.4(AGTR2):c.1009A>G (p.Ile337Val) http://identifiers.org/clinvar/11771 ^@ NM_001110556.1(FLNA):c.65_66delAC (p.Thr23Alafs) http://identifiers.org/clinvar/11821 ^@ MECP2, 41-BP DEL, NT1159 http://identifiers.org/clinvar/11871 ^@ NM_000137.2(FAH):c.1069G>T (p.Glu357Ter) http://identifiers.org/clinvar/11921 ^@ NM_000203.4(IDUA):c.613_617dupTGCTC (p.Glu207Alafs) http://identifiers.org/clinvar/11971 ^@ NM_000108.4(DLD):c.1123G>A (p.Glu375Lys) http://identifiers.org/clinvar/12023 ^@ NM_000282.3(PCCA):c.862A>T (p.Arg288Ter) http://identifiers.org/clinvar/12073 ^@ F7, ASN57ASP http://identifiers.org/clinvar/12123 ^@ NM_000204.4(CFI):c.1637G>A (p.Trp546Ter) http://identifiers.org/clinvar/12176 ^@ CYP21A2, 1-BP INS, 82C http://identifiers.org/clinvar/12228 ^@ NM_001692.3(ATP6V1B1):c.242T>C (p.Leu81Pro) http://identifiers.org/clinvar/12279 ^@ NM_000463.2(UGT1A1):c.1085-2A>G http://identifiers.org/clinvar/12331 ^@ NM_199292.2(TH):c.1198-24T>A http://identifiers.org/clinvar/12382 ^@ NM_000546.5(TP53):c.566C>T (p.Ala189Val) http://identifiers.org/clinvar/12433 ^@ TNNI3, 3-BP DEL, LYS183 http://identifiers.org/clinvar/12484 ^@ NM_000359.2(TGM1):c.968G>A (p.Arg323Gln) http://identifiers.org/clinvar/12534 ^@ NM_000660.6(TGFB1):c.29C>T (p.Pro10Leu) http://identifiers.org/clinvar/12584 ^@ NM_033360.3(KRAS):c.34G>A (p.Gly12Ser) http://identifiers.org/clinvar/12635 ^@ NM_000458.3(HNF1B):c.529C>T (p.Arg177Ter) http://identifiers.org/clinvar/12686 ^@ TSHB, 1-BP DEL, 313T http://identifiers.org/clinvar/12737 ^@ NM_198253.2(TERT):c.2240delT (p.Val747Alafs) http://identifiers.org/clinvar/12787 ^@ NM_003000.2(SDHB):c.395A>C (p.His132Pro) http://identifiers.org/clinvar/12837 ^@ NM_001024858.2(SPTB):c.6055T>C (p.Ser2019Pro) http://identifiers.org/clinvar/12888 ^@ SCN1A, 2-BP DEL, 657AG http://identifiers.org/clinvar/36675 ^@ NM_000444.5(PHEX):c.1949T>C (p.Leu650Pro) http://identifiers.org/clinvar/36729 ^@ NM_001035.2(RYR2):c.10254C>T (p.Asn3418=) http://identifiers.org/clinvar/36780 ^@ NM_003122.4(SPINK1):c.27delC (p.Ser10Valfs) http://identifiers.org/clinvar/36830 ^@ NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) http://identifiers.org/clinvar/37457 ^@ NM_007294.3(BRCA1):c.2214_2215insTT (p.Lys739Leufs) http://identifiers.org/clinvar/37512 ^@ NM_007294.3(BRCA1):c.3174delT (p.Asn1059Metfs) http://identifiers.org/clinvar/242680 ^@ NM_000171.3(GLRA1):c.1259G>A (p.Arg420His) http://identifiers.org/clinvar/38738 ^@ NM_005359.5(SMAD4):c.424+1G>A http://identifiers.org/clinvar/38788 ^@ NM_000495.4(COL4A5):c.4942dupT (p.Trp1648Leufs) http://identifiers.org/clinvar/38912 ^@ NM_001079.3(ZAP70):c.1393C>T (p.Arg465Cys) http://identifiers.org/clinvar/38962 ^@ NM_001845.5(COL4A1):c.1769G>A (p.Gly590Glu) http://identifiers.org/clinvar/39014 ^@ NM_016938.4(EFEMP2):c.608A>C (p.Asp203Ala) http://identifiers.org/clinvar/39064 ^@ NM_024312.4(GNPTAB):c.3061C>T (p.Gln1021Ter) http://identifiers.org/clinvar/39121 ^@ NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) http://identifiers.org/clinvar/39171 ^@ NM_198578.3(LRRK2):c.3683G>C (p.Ser1228Thr) http://identifiers.org/clinvar/39221 ^@ NM_198578.3(LRRK2):c.6241A>G (p.Asn2081Asp) http://identifiers.org/clinvar/39272 ^@ NM_207352.3(CYP4V2):c.958C>T (p.Arg320Ter) http://identifiers.org/clinvar/39434 ^@ NM_007171.3(POMT1):c.430A>G (p.Asn144Asp) http://identifiers.org/clinvar/39486 ^@ NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) http://identifiers.org/clinvar/39536 ^@ NM_000359.2(TGM1):c.2278C>T (p.Arg760Ter) http://identifiers.org/clinvar/39586 ^@ NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu) http://identifiers.org/clinvar/39638 ^@ NM_144577.3(CCDC114):c.486+1G>A http://identifiers.org/clinvar/39690 ^@ HS6ST1, ARG296TRP http://identifiers.org/clinvar/39740 ^@ NM_000987.3(RPL26):c.120_121delGA (p.Lys41Valfs) http://identifiers.org/clinvar/39791 ^@ NM_001083614.1(EARS2):c.286G>A (p.Glu96Lys) http://identifiers.org/clinvar/39842 ^@ NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter) http://identifiers.org/clinvar/39992 ^@ NM_001291415.1(KDM6A):c.3873G>A (p.Trp1291Ter) http://identifiers.org/clinvar/40118 ^@ NM_001128085.1(ASPA):c.433-2A>G http://identifiers.org/clinvar/40249 ^@ POLG2, 2-BP DEL, 1423TT http://identifiers.org/clinvar/40380 ^@ NM_004333.4(BRAF):c.1595G>A (p.Cys532Tyr) http://identifiers.org/clinvar/40446 ^@ NM_005343.3(HRAS):c.477G>A (p.Leu159=) http://identifiers.org/clinvar/40514 ^@ NM_002834.4(PTPN11):c.455G>A (p.Arg152His) http://identifiers.org/clinvar/40573 ^@ NM_002880.3(RAF1):c.-337_-336delAG http://identifiers.org/clinvar/40635 ^@ NM_007373.3(SHOC2):c.10A>C (p.Ser4Arg) http://identifiers.org/clinvar/53321 ^@ NM_000492.3(CFTR):c.1656delA (p.Gln552Hisfs) http://identifiers.org/clinvar/53371 ^@ NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) http://identifiers.org/clinvar/53422 ^@ NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) http://identifiers.org/clinvar/53475 ^@ NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) http://identifiers.org/clinvar/53526 ^@ NM_000492.3(CFTR):c.2619G>A (p.Glu873=) http://identifiers.org/clinvar/53576 ^@ NM_000492.3(CFTR):c.2836A>T (p.Lys946Ter) http://identifiers.org/clinvar/53627 ^@ NM_000492.3(CFTR):c.3017C>A (p.Ala1006Glu) http://identifiers.org/clinvar/53679 ^@ NM_000492.3(CFTR):c.3199G>C (p.Ala1067Pro) http://identifiers.org/clinvar/53729 ^@ NM_000492.3(CFTR):c.3382A>T (p.Arg1128Ter) http://identifiers.org/clinvar/53780 ^@ NM_000492.3(CFTR):c.3617C>A (p.Ser1206Ter) http://identifiers.org/clinvar/53832 ^@ NM_000492.3(CFTR):c.3874-1G>A http://identifiers.org/clinvar/53884 ^@ NM_000492.3(CFTR):c.4086dupT (p.Lys1363Terfs) http://identifiers.org/clinvar/53935 ^@ NM_000492.3(CFTR):c.4264C>T (p.Arg1422Trp) http://identifiers.org/clinvar/53985 ^@ NM_000492.3(CFTR):c.518_522delATAAA (p.Ile175Tyrfs) http://identifiers.org/clinvar/54035 ^@ NM_000492.3(CFTR):c.653T>A (p.Leu218Ter) http://identifiers.org/clinvar/54087 ^@ NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) http://identifiers.org/clinvar/54137 ^@ NM_007294.3(BRCA1):c.1121_1123delCACinsT (p.Thr374Ilefs) http://identifiers.org/clinvar/54187 ^@ NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter) http://identifiers.org/clinvar/54237 ^@ NM_007294.3(BRCA1):c.1391C>T (p.Thr464Ile) http://identifiers.org/clinvar/54288 ^@ NM_007294.3(BRCA1):c.1544A>G (p.Glu515Gly) http://identifiers.org/clinvar/54338 ^@ NM_007294.3(BRCA1):c.1733C>A (p.Ser578Tyr) http://identifiers.org/clinvar/54389 ^@ NM_007294.3(BRCA1):c.189A>T (p.Leu63Phe) http://identifiers.org/clinvar/54439 ^@ NM_007294.3(BRCA1):c.201T>G (p.Asp67Glu) http://identifiers.org/clinvar/54489 ^@ NM_007294.3(BRCA1):c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs) http://identifiers.org/clinvar/54539 ^@ NM_007294.3(BRCA1):c.2338C>A (p.Gln780Lys) http://identifiers.org/clinvar/54589 ^@ NM_007294.3(BRCA1):c.2517_2518delCA (p.His839Glnfs) http://identifiers.org/clinvar/55538 ^@ NM_007294.3(BRCA1):c.5333-6T>G http://identifiers.org/clinvar/55588 ^@ NM_007294.3(BRCA1):c.5467G>A (p.Ala1823Thr) http://identifiers.org/clinvar/55949 ^@ NM_000027.3(AGA):c.503G>A (p.Trp168Ter) http://identifiers.org/clinvar/56053 ^@ NM_000170.2(GLDC):c.1926+1G>A http://identifiers.org/clinvar/56104 ^@ NM_000170.2(GLDC):c.806C>T (p.Thr269Met) http://identifiers.org/clinvar/56158 ^@ NM_014585.5(SLC40A1):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/56209 ^@ NM_000310.3(PPT1):c.644delA (p.Tyr215Serfs) http://identifiers.org/clinvar/56260 ^@ NM_001042432.1(CLN3):c.222+5G>C http://identifiers.org/clinvar/56310 ^@ NM_001080522.2(CC2D2A):c.3893T>A (p.Val1298Asp) http://identifiers.org/clinvar/56362 ^@ NM_001126105.2(SLC7A7):c.1465T>C (p.Ser489Pro) http://identifiers.org/clinvar/56414 ^@ NM_004328.4(BCS1L):c.980T>C (p.Val327Ala) http://identifiers.org/clinvar/56464 ^@ NM_004646.3(NPHS1):c.2160dupC (p.Cys721Leufs) http://identifiers.org/clinvar/56514 ^@ NM_004646.3(NPHS1):c.534delG (p.Thr179Glnfs) http://identifiers.org/clinvar/56565 ^@ NM_015294.4(TRIM37):c.1411C>T (p.Arg471Ter) http://identifiers.org/clinvar/56622 ^@ NM_017777.3(MKS1):c.424C>T (p.Gln142Ter) http://identifiers.org/clinvar/56673 ^@ NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) http://identifiers.org/clinvar/56723 ^@ NM_018965.3(TREM2):c.40+3_40+5delAGG http://identifiers.org/clinvar/56773 ^@ NM_153704.5(TMEM67):c.2322+2dupT http://identifiers.org/clinvar/56906 ^@ NM_004380.2(CREBBP):c.497C>A (p.Pro166His) http://identifiers.org/clinvar/57034 ^@ GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 http://identifiers.org/clinvar/57088 ^@ GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 http://identifiers.org/clinvar/57143 ^@ GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 http://identifiers.org/clinvar/57193 ^@ GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 http://identifiers.org/clinvar/57246 ^@ GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 http://identifiers.org/clinvar/57300 ^@ GRCh38/hg38 Xq26.2(chrX:131591104-132007390)x2 http://identifiers.org/clinvar/57353 ^@ GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 http://identifiers.org/clinvar/57404 ^@ GRCh38/hg38 17q24.3(chr17:69766783-71154921)x1 http://identifiers.org/clinvar/101171 ^@ NM_000090.3(COL3A1):c.547G>T (p.Gly183Cys) http://identifiers.org/clinvar/101221 ^@ NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg) http://identifiers.org/clinvar/101271 ^@ NP_000081.1:p.Lys503_Gly504insGFDGRNGEKGETGAPGLK http://identifiers.org/clinvar/101321 ^@ NM_000090.3(COL3A1):c.1662+1G>C (p.Gly537_Pro554del) http://identifiers.org/clinvar/101371 ^@ NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) http://identifiers.org/clinvar/101421 ^@ NM_000090.3(COL3A1):c.3527_3528delGCinsAA (p.Gly1176Glu) http://identifiers.org/clinvar/101471 ^@ NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp) http://identifiers.org/clinvar/103149 ^@ NM_024618.3(NLRX1):c.914G>A (p.Arg305His) http://identifiers.org/clinvar/103249 ^@ NM_138329.2(NLRP6):c.30-335G>A http://identifiers.org/clinvar/103299 ^@ NM_153447.4(NLRP5):c.622+403G>C http://identifiers.org/clinvar/103349 ^@ NM_176822.3(NLRP14):c.2976-24A>G http://identifiers.org/clinvar/111223 ^@ NM_000619.2(IFNG):c.115-156A>G http://identifiers.org/clinvar/111273 ^@ NM_006068.4(TLR6):c.629C>G (p.Ala210Gly) http://identifiers.org/clinvar/125507 ^@ NM_007294.3(BRCA1):c.1695dupG (p.Lys566Glufs) http://identifiers.org/clinvar/125581 ^@ NM_007294.3(BRCA1):c.2686delA (p.Ser896Valfs) http://identifiers.org/clinvar/125665 ^@ NM_007294.3(BRCA1):c.301+5G>A http://identifiers.org/clinvar/125726 ^@ NM_007294.3(BRCA1):c.4676-2A>G http://identifiers.org/clinvar/125800 ^@ U14680.1:n.5312+85delT http://identifiers.org/clinvar/125864 ^@ NM_007294.3(BRCA1):c.442-34C>T http://identifiers.org/clinvar/125927 ^@ NM_000059.3(BRCA2):c.*105A>C http://identifiers.org/clinvar/125991 ^@ NM_000059.3(BRCA2):c.67+62T>G http://identifiers.org/clinvar/126056 ^@ NM_000059.3(BRCA2):c.4965C>R (p.Tyr1655Ter) http://identifiers.org/clinvar/126129 ^@ NM_000059.3(BRCA2):c.7072T>C (p.Ser2358Pro) http://identifiers.org/clinvar/126188 ^@ NM_000059.3(BRCA2):c.8722G>A (p.Val2908Met) http://identifiers.org/clinvar/126248 ^@ NM_001080522.2(CC2D2A):c.777C>T (p.His259=) http://identifiers.org/clinvar/126298 ^@ NM_153704.5(TMEM67):c.1288+46C>T http://identifiers.org/clinvar/126349 ^@ NM_003070.4(SMARCA2):c.4638C>G (p.Asp1546Glu) http://identifiers.org/clinvar/126405 ^@ NM_015474.3(SAMHD1):c.1153A>G (p.Met385Val) http://identifiers.org/clinvar/126473 ^@ NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) http://identifiers.org/clinvar/126555 ^@ NM_198576.3(AGRN):c.5179G>T (p.Val1727Phe) http://identifiers.org/clinvar/126610 ^@ NM_024675.3(PALB2):c.1606C>T (p.Leu536=) http://identifiers.org/clinvar/126662 ^@ NM_024675.3(PALB2):c.2586+31T>G http://identifiers.org/clinvar/126712 ^@ NM_024675.3(PALB2):c.3114-40T>G http://identifiers.org/clinvar/126763 ^@ NM_024675.3(PALB2):c.656A>G (p.Asp219Gly) http://identifiers.org/clinvar/126923 ^@ NM_001127464.2(ZNF469):c.290C>T (p.Pro97Leu) http://identifiers.org/clinvar/126973 ^@ NM_017849.3(TMEM127):c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs) http://identifiers.org/clinvar/127023 ^@ NM_005591.3(MRE11):c.*656T>C http://identifiers.org/clinvar/127075 ^@ NM_000806.5(GABRA1):c.917A>C (p.Lys306Thr) http://identifiers.org/clinvar/127144 ^@ NM_005861.3(STUB1):c.389A>T (p.Asn130Ile) http://identifiers.org/clinvar/127245 ^@ NM_002894.2(RBBP8):c.298C>T (p.Arg100Trp) http://identifiers.org/clinvar/127297 ^@ NM_000038.5(APC):c.4709A>G (p.Asp1570Gly) http://identifiers.org/clinvar/127347 ^@ NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) http://identifiers.org/clinvar/160364 ^@ NM_005343.3(HRAS):c.182A>G (p.Gln61Arg) http://identifiers.org/clinvar/160817 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 http://identifiers.org/clinvar/160868 ^@ GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 http://identifiers.org/clinvar/160921 ^@ GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 http://identifiers.org/clinvar/161123 ^@ NM_152296.4(ATP1A3):c.419A>T (p.Gln140Leu) http://identifiers.org/clinvar/161205 ^@ NM_000038.5(APC):c.7778A>G (p.Asn2593Ser) http://identifiers.org/clinvar/161255 ^@ NM_000238.3(KCNH2):c.3139C>T (p.Arg1047Cys) http://identifiers.org/clinvar/161355 ^@ NM_000264.3(PTCH1):c.3422C>T (p.Ala1141Val) http://identifiers.org/clinvar/161305 ^@ NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) http://identifiers.org/clinvar/161411 ^@ NM_001543.4(NDST1):c.1918T>C (p.Phe640Leu) http://identifiers.org/clinvar/161724 ^@ NM_018901.3(PCDHA10):c.1166C>T (p.Thr389Met) http://identifiers.org/clinvar/161474 ^@ NM_000876.3(IGF2R):c.3670+2T>C http://identifiers.org/clinvar/161574 ^@ NM_001207011.1(CNTFR):c.700G>C (p.Asp234His) http://identifiers.org/clinvar/161774 ^@ NM_030569.6(ITIH5):c.2545G>T (p.Asp849Tyr) http://identifiers.org/clinvar/161674 ^@ NM_014311.2(SMUG1):c.285+5A>T http://identifiers.org/clinvar/161824 ^@ NM_153604.3(MYOCD):c.2533delA (p.Lys845Argfs) http://identifiers.org/clinvar/161624 ^@ NM_004774.3(MED1):c.632T>G (p.Leu211Arg) http://identifiers.org/clinvar/161524 ^@ NM_001135099.1(TMPRSS2):c.1333_1334delCA (p.Gln445Glufs) http://identifiers.org/clinvar/242629 ^@ NM_000760.3(CSF3R):c.948_963del16 (p.His317Alafs) http://identifiers.org/clinvar/161988 ^@ NM_002769.4(PRSS1):c.354A>C (p.Val118=) http://identifiers.org/clinvar/162054 ^@ NM_001244008.1(KIF1A):c.430G>T (p.Val144Phe) http://identifiers.org/clinvar/162114 ^@ NM_005211.3(CSF1R):c.2541G>C (p.Glu847Asp) http://identifiers.org/clinvar/162173 ^@ NM_194318.3(B3GLCT):c.271-1835T>C http://identifiers.org/clinvar/162385 ^@ NM_152515.4(CKAP2L):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/162466 ^@ NM_000701.7(ATP1A1):c.311T>G (p.Leu104Arg) http://identifiers.org/clinvar/162519 ^@ NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) http://identifiers.org/clinvar/162603 ^@ NM_020451.2(SELENON):c.716G>A (p.Arg239His) http://identifiers.org/clinvar/165072 ^@ NM_001035.2(RYR2):c.649A>G (p.Ile217Val) http://identifiers.org/clinvar/178124 ^@ NM_001035.2(RYR2):c.9891G>A (p.Lys3297=) http://identifiers.org/clinvar/178174 ^@ NM_001256850.1(TTN):c.84061G>A (p.Gly28021Ser) http://identifiers.org/clinvar/178574 ^@ NM_206933.2(USH2A):c.11815G>A (p.Glu3939Lys) http://identifiers.org/clinvar/166468 ^@ NM_206933.2(USH2A):c.8559-7G>A http://identifiers.org/clinvar/179043 ^@ NM_133378.4(TTN):c.57107G>A (p.Arg19036Gln) http://identifiers.org/clinvar/165903 ^@ NM_133378.4(TTN):c.56443G>A (p.Ala18815Thr) http://identifiers.org/clinvar/165784 ^@ NM_133378.4(TTN):c.77647C>T (p.Pro25883Ser) http://identifiers.org/clinvar/179982 ^@ NM_133378.4(TTN):c.37439T>C (p.Ile12480Thr) http://identifiers.org/clinvar/178224 ^@ NM_001256850.1(TTN):c.34755G>A (p.Pro11585=) http://identifiers.org/clinvar/166100 ^@ NM_001256850.1(TTN):c.33723C>T (p.Pro11241=) http://identifiers.org/clinvar/166236 ^@ NM_133432.3(TTN):c.12173C>T (p.Ser4058Leu) http://identifiers.org/clinvar/166286 ^@ NM_133379.4(TTN):c.10453G>C (p.Ala3485Pro) http://identifiers.org/clinvar/178274 ^@ NM_133378.4(TTN):c.2396C>T (p.Thr799Met) http://identifiers.org/clinvar/164848 ^@ NM_194248.2(OTOF):c.4023+7C>T http://identifiers.org/clinvar/178742 ^@ NM_001369.2(DNAH5):c.12468A>C (p.Gly4156=) http://identifiers.org/clinvar/163154 ^@ NM_001369.2(DNAH5):c.3258T>C (p.Leu1086=) http://identifiers.org/clinvar/166346 ^@ NM_133378.4(TTN):c.1728A>G (p.Lys576=) http://identifiers.org/clinvar/165980 ^@ NM_001256850.1(TTN):c.48884G>A (p.Arg16295His) http://identifiers.org/clinvar/178692 ^@ NM_000551.3(VHL):c.256C>T (p.Pro86Ser) http://identifiers.org/clinvar/178893 ^@ NM_004415.3(DSP):c.1484T>C (p.Val495Ala) http://identifiers.org/clinvar/178474 ^@ NM_004999.3(MYO6):c.2595C>T (p.Pro865=) http://identifiers.org/clinvar/179732 ^@ NM_000441.1(SLC26A4):c.1522A>G (p.Thr508Ala) http://identifiers.org/clinvar/163104 ^@ NM_001277115.1(DNAH11):c.4879C>T (p.Arg1627Cys) http://identifiers.org/clinvar/163032 ^@ NM_004403.2(DFNA5):c.1277_1279delATG (p.Asp426del) http://identifiers.org/clinvar/177620 ^@ NM_005228.4(EGFR):c.2236_2250delGAATTAAGAGAAGCA (p.Glu746_Ala750del) http://identifiers.org/clinvar/163352 ^@ NM_005228.4(EGFR):c.2237_2251delAATTAAGAGAAGCAAinsTTC (p.Glu746_Thr751delinsValPro) http://identifiers.org/clinvar/164633 ^@ NM_004999.3(MYO6):c.465C>T (p.Ala155=) http://identifiers.org/clinvar/179932 ^@ NM_032119.3(ADGRV1):c.11745T>C (p.Phe3915=) http://identifiers.org/clinvar/217362 ^@ NM_130838.1(UBE3A):c.1412_1416delATTAT (p.Tyr471Terfs) http://identifiers.org/clinvar/242578 ^@ NM_003560.2(PLA2G6):c.1942G>A (p.Gly648Arg) http://identifiers.org/clinvar/202217 ^@ NC_000023.10:g.(?_63131115)_(63414996_?)dup http://identifiers.org/clinvar/202340 ^@ NM_001267550.2(TTN):c.105787_105788delGCinsTT (p.Ala35263Phe) http://identifiers.org/clinvar/229679 ^@ NM_000051.3(ATM):c.1892C>T (p.Pro631Leu) http://identifiers.org/clinvar/229729 ^@ NM_000051.3(ATM):c.6397C>T (p.Gln2133Ter) http://identifiers.org/clinvar/231218 ^@ NM_000059.3(BRCA2):c.8192A>G (p.Gln2731Arg) http://identifiers.org/clinvar/230918 ^@ NM_000059.3(BRCA2):c.8424T>C (p.Leu2808=) http://identifiers.org/clinvar/230818 ^@ NM_000059.3(BRCA2):c.9248A>G (p.Lys3083Arg) http://identifiers.org/clinvar/229779 ^@ NM_001042492.2(NF1):c.2054C>G (p.Thr685Ser) http://identifiers.org/clinvar/231168 ^@ NM_001042492.2(NF1):c.6945C>T (p.Leu2315=) http://identifiers.org/clinvar/231268 ^@ NM_007294.3(BRCA1):c.4603G>A (p.Glu1535Lys) http://identifiers.org/clinvar/230868 ^@ NM_032043.2(BRIP1):c.2542C>G (p.Arg848Gly) http://identifiers.org/clinvar/234996 ^@ NM_000238.3(KCNH2):c.1805T>C (p.Leu602Pro) http://identifiers.org/clinvar/235046 ^@ NM_002834.4(PTPN11):c.642G>A (p.Gln214=) http://identifiers.org/clinvar/235096 ^@ NM_000271.4(NPC1):c.3127A>G (p.Thr1043Ala) http://identifiers.org/clinvar/235233 ^@ NM_004667.5(HERC2):c.7316C>A (p.Ala2439Asp) http://identifiers.org/clinvar/235287 ^@ NM_001099401.1(SGCE):c.1295G>A (p.Ser432Asn) http://identifiers.org/clinvar/235339 ^@ NM_001111.4(ADAR):c.1229A>G (p.Glu410Gly) http://identifiers.org/clinvar/235392 ^@ NM_020686.5(ABAT):c.603+3G>A http://identifiers.org/clinvar/235448 ^@ NM_000282.3(PCCA):c.1745C>T (p.Ser582Leu) http://identifiers.org/clinvar/235500 ^@ NM_006929.4(SKIV2L):c.1046C>A (p.Ala349Asp) http://identifiers.org/clinvar/235553 ^@ NM_015275.2(WASHC4):c.2054G>A (p.Arg685Gln) http://identifiers.org/clinvar/235604 ^@ NM_001035.2(RYR2):c.13804C>T (p.Arg4602Ter) http://identifiers.org/clinvar/235656 ^@ NM_016381.5(TREX1):c.565C>T (p.Leu189Phe) http://identifiers.org/clinvar/235710 ^@ NM_021098.2(CACNA1H):c.3206G>A (p.Arg1069Gln) http://identifiers.org/clinvar/235772 ^@ NM_182480.2(COQ6):c.89-15dupT http://identifiers.org/clinvar/235844 ^@ NM_004187.3(KDM5C):c.2152G>C (p.Ala718Pro) http://identifiers.org/clinvar/236015 ^@ NM_020070.3(IGLL1):c.258delG (p.Gln88Asnfs) http://identifiers.org/clinvar/236128 ^@ NM_000350.2(ABCA4):c.5312+1G>A http://identifiers.org/clinvar/236078 ^@ NM_000350.2(ABCA4):c.1086T>A (p.Tyr362Ter) http://identifiers.org/clinvar/236178 ^@ NM_004621.5(TRPC6):c.945+174C>T http://identifiers.org/clinvar/237111 ^@ NM_000143.3(FH):c.1482A>G (p.Ala494=) http://identifiers.org/clinvar/240158 ^@ NM_005373.2(MPL):c.92T>C (p.Leu31Pro) http://identifiers.org/clinvar/240708 ^@ NM_006922.3(SCN3A):c.2021G>A (p.Gly674Asp) http://identifiers.org/clinvar/238814 ^@ NM_001267550.2(TTN):c.59647_59648delGA (p.Asp19883Serfs) http://identifiers.org/clinvar/238764 ^@ NM_001267550.2(TTN):c.38708-4T>C http://identifiers.org/clinvar/238714 ^@ NM_001267550.2(TTN):c.19317G>C (p.Val6439=) http://identifiers.org/clinvar/237814 ^@ NM_000465.3(BARD1):c.1172C>G (p.Ser391Ter) http://identifiers.org/clinvar/239807 ^@ NM_004304.4(ALK):c.2526C>T (p.Ala842=) http://identifiers.org/clinvar/237413 ^@ NM_000251.2(MSH2):c.871C>G (p.Leu291Val) http://identifiers.org/clinvar/237363 ^@ NM_000251.2(MSH2):c.1241T>G (p.Leu414Arg) http://identifiers.org/clinvar/237213 ^@ NM_000179.2(MSH6):c.741delA (p.Lys247Asnfs) http://identifiers.org/clinvar/237162 ^@ NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) http://identifiers.org/clinvar/238114 ^@ NM_000551.3(VHL):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/237764 ^@ NM_000388.3(CASR):c.2244C>G (p.Pro748=) http://identifiers.org/clinvar/242197 ^@ NM_198056.2(SCN5A):c.4245+8C>T http://identifiers.org/clinvar/240057 ^@ NM_004656.3(BAP1):c.288G>A (p.Leu96=) http://identifiers.org/clinvar/241747 ^@ NM_033337.2(CAV3):c.234G>A (p.Thr78=) http://identifiers.org/clinvar/238614 ^@ NM_001166110.1(PALLD):c.683C>T (p.Ala228Val) http://identifiers.org/clinvar/240358 ^@ NM_006206.4(PDGFRA):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/240308 ^@ NM_006206.4(PDGFRA):c.1436G>A (p.Arg479Gln) http://identifiers.org/clinvar/242247 ^@ NM_198253.2(TERT):c.970G>A (p.Val324Met) http://identifiers.org/clinvar/240208 ^@ NM_005732.3(RAD50):c.114T>A (p.Asn38Lys) http://identifiers.org/clinvar/239657 ^@ NM_004168.3(SDHA):c.1751C>T (p.Ala584Val) http://identifiers.org/clinvar/241847 ^@ NM_138694.3(PKHD1):c.6996+9T>A http://identifiers.org/clinvar/261796 ^@ NM_025074.6(FRAS1):c.10389+11C>T http://identifiers.org/clinvar/260357 ^@ NM_014208.3(DSPP):c.303C>T (p.Asn101=) http://identifiers.org/clinvar/260807 ^@ NM_017415.2(KLHL3):c.1383G>A (p.Glu461=) http://identifiers.org/clinvar/258067 ^@ NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) http://identifiers.org/clinvar/258017 ^@ NM_001369.2(DNAH5):c.3175-34G>A http://identifiers.org/clinvar/263046 ^@ NM_182925.4(FLT4):c.3220-10G>T http://identifiers.org/clinvar/262346 ^@ NM_133433.3(NIPBL):c.3502+17A>C http://identifiers.org/clinvar/257367 ^@ NM_001080479.2(ARHGEF28):c.315G>T (p.Thr105=) http://identifiers.org/clinvar/256078 ^@ NM_000426.3(LAMA2):c.5769A>G (p.Ala1923=) http://identifiers.org/clinvar/260857 ^@ NM_017651.4(AHI1):c.3485+13_3485+15delTTC http://identifiers.org/clinvar/262196 ^@ NM_033071.3(SYNE1):c.3526-39A>C http://identifiers.org/clinvar/262996 ^@ NM_182548.3(LHFPL5):c.474G>A (p.Arg158=) http://identifiers.org/clinvar/262396 ^@ NM_138694.3(PKHD1):c.2407+50C>T http://identifiers.org/clinvar/260207 ^@ NM_012160.4(FBXL4):c.105T>A (p.His35Gln) http://identifiers.org/clinvar/257517 ^@ NM_001127500.2(MET):c.4092G>A (p.Gly1364=) http://identifiers.org/clinvar/257917 ^@ NM_001277115.1(DNAH11):c.6181-12T>C http://identifiers.org/clinvar/257867 ^@ NM_001277115.1(DNAH11):c.13076G>A (p.Arg4359Gln) http://identifiers.org/clinvar/257267 ^@ NM_001040167.1(LFNG):c.612C>T (p.Tyr204=) http://identifiers.org/clinvar/260757 ^@ NM_016616.4(NME8):c.1545-15C>T http://identifiers.org/clinvar/255428 ^@ NM_000168.5(GLI3):c.2165A>G (p.Asn722Ser) http://identifiers.org/clinvar/260257 ^@ NM_012431.2(SEMA3E):c.998+12A>T http://identifiers.org/clinvar/263096 ^@ NM_194456.1(KRIT1):c.1752C>T (p.Ile584=) http://identifiers.org/clinvar/256178 ^@ NM_000445.4(PLEC):c.7507-35C>T http://identifiers.org/clinvar/260907 ^@ NM_017780.3(CHD7):c.5210+25delG http://identifiers.org/clinvar/262746 ^@ NM_153704.5(TMEM67):c.261C>T (p.Ile87=) http://identifiers.org/clinvar/260407 ^@ NM_014425.4(INVS):c.178A>C (p.Arg60=) http://identifiers.org/clinvar/259807 ^@ NM_005592.3(MUSK):c.206+28A>T http://identifiers.org/clinvar/260507 ^@ NM_015046.5(SETX):c.498+20G>A http://identifiers.org/clinvar/262446 ^@ NM_139025.4(ADAMTS13):c.354G>A (p.Pro118=) http://identifiers.org/clinvar/255078 ^@ NM_000093.4(COL5A1):c.3475-42G>C http://identifiers.org/clinvar/262546 ^@ NM_144966.5(FREM1):c.829-12A>G http://identifiers.org/clinvar/255678 ^@ NM_000264.3(PTCH1):c.2887+21A>G http://identifiers.org/clinvar/262846 ^@ NM_173551.4(ANKS6):c.1854C>T (p.Leu618=) http://identifiers.org/clinvar/260457 ^@ NM_014915.2(ANKRD26):c.1273A>G (p.Ile425Val) http://identifiers.org/clinvar/255928 ^@ NM_000352.4(ABCC8):c.-8G>T http://identifiers.org/clinvar/258167 ^@ NM_001604.5(PAX6):c.1215C>T (p.Thr405=) http://identifiers.org/clinvar/256378 ^@ NM_000536.3(RAG2):c.878A>G (p.Glu293Gly) http://identifiers.org/clinvar/260057 ^@ NM_006876.2(B4GAT1):c.117G>A (p.Gln39=) http://identifiers.org/clinvar/262246 ^@ NM_052845.3(MMAB):c.56G>A (p.Arg19His) http://identifiers.org/clinvar/258817 ^@ NM_002834.4(PTPN11):c.526-17T>C http://identifiers.org/clinvar/258217 ^@ NM_001844.4(COL2A1):c.1836T>C (p.Gly612=) http://identifiers.org/clinvar/261846 ^@ NM_025114.3(CEP290):c.4705-18C>T http://identifiers.org/clinvar/255628 ^@ NM_000257.3(MYH7):c.2145C>T (p.Tyr715=) http://identifiers.org/clinvar/257117 ^@ NM_001024858.2(SPTB):c.4293A>G (p.Arg1431=) http://identifiers.org/clinvar/255378 ^@ NM_000153.3(GALC):c.443-30C>T http://identifiers.org/clinvar/255728 ^@ NM_000275.2(OCA2):c.2165T>C (p.Ile722Thr) http://identifiers.org/clinvar/262896 ^@ NM_174916.2(UBR1):c.4803T>C (p.Tyr1601=) http://identifiers.org/clinvar/332902 ^@ NM_133378.4(TTN):c.24810G>A (p.Glu8270=) http://identifiers.org/clinvar/332952 ^@ NM_133378.4(TTN):c.5953A>G (p.Ile1985Val) http://identifiers.org/clinvar/332802 ^@ NM_133378.4(TTN):c.58861A>G (p.Ile19621Val) http://identifiers.org/clinvar/332852 ^@ NM_133378.4(TTN):c.40320G>T (p.Arg13440=) http://identifiers.org/clinvar/333152 ^@ NM_000393.4(COL5A2):c.-176T>A http://identifiers.org/clinvar/335393 ^@ NM_000183.2(HADHB):c.-214C>T http://identifiers.org/clinvar/333302 ^@ NM_002156.4(HSPD1):c.*384T>A http://identifiers.org/clinvar/333002 ^@ NM_201548.4(CERKL):c.*114A>G http://identifiers.org/clinvar/333102 ^@ NM_000393.4(COL5A2):c.*1669G>A http://identifiers.org/clinvar/335543 ^@ NM_015636.3(EIF2B4):c.308G>A (p.Arg103His) http://identifiers.org/clinvar/333702 ^@ NM_001204.6(BMPR2):c.*5038T>A http://identifiers.org/clinvar/335693 ^@ NM_004304.4(ALK):c.3408C>T (p.Ser1136=) http://identifiers.org/clinvar/333352 ^@ NM_001006657.1(WDR35):c.*1062G>A http://identifiers.org/clinvar/333802 ^@ NM_014929.3(FASTKD2):c.527C>T (p.Ala176Val) http://identifiers.org/clinvar/333902 ^@ NM_015040.3(PIKFYVE):c.2535T>C (p.Ser845=) http://identifiers.org/clinvar/333652 ^@ NM_001204.6(BMPR2):c.2948G>A (p.Arg983Gln) http://identifiers.org/clinvar/337010 ^@ NM_015120.4(ALMS1):c.1343C>G (p.Pro448Arg) http://identifiers.org/clinvar/333752 ^@ NM_012092.3(ICOS):c.*1025A>G http://identifiers.org/clinvar/337260 ^@ NM_000821.6(GGCX):c.1906C>A (p.Pro636Thr) http://identifiers.org/clinvar/337310 ^@ NM_198843.2(SFTPB):c.582C>T (p.Pro194=) http://identifiers.org/clinvar/337560 ^@ NM_014014.4(SNRNP200):c.972C>T (p.His324=) http://identifiers.org/clinvar/336960 ^@ NM_003494.3(DYSF):c.2536G>A (p.Ala846Thr) http://identifiers.org/clinvar/337060 ^@ NM_212552.2(BOLA3):c.-35C>T http://identifiers.org/clinvar/334454 ^@ NM_001927.3(DES):c.*489G>A http://identifiers.org/clinvar/342540 ^@ NM_198196.2(CD96):c.1295A>T (p.Gln432Leu) http://identifiers.org/clinvar/342590 ^@ NM_198196.2(CD96):c.*2269G>T http://identifiers.org/clinvar/342640 ^@ NM_020754.3(ARHGAP31):c.1178A>G (p.Lys393Arg) http://identifiers.org/clinvar/342790 ^@ NM_001023570.3(IQCB1):c.-193T>C http://identifiers.org/clinvar/337460 ^@ NM_017849.3(TMEM127):c.*2503C>T http://identifiers.org/clinvar/342890 ^@ NM_053025.3(MYLK):c.2461C>T (p.Arg821Trp) http://identifiers.org/clinvar/342290 ^@ NM_016247.3(IMPG2):c.*2653T>C http://identifiers.org/clinvar/342440 ^@ NM_000551.3(VHL):c.*1617G>T http://identifiers.org/clinvar/335493 ^@ NM_000221.2(KHK):c.527G>A (p.Arg176Gln) http://identifiers.org/clinvar/335643 ^@ NM_001029883.2(C2orf71):c.2991G>A (p.Thr997=) http://identifiers.org/clinvar/335293 ^@ NM_000030.2(AGXT):c.-14G>A http://identifiers.org/clinvar/335343 ^@ NM_152783.4(D2HGDH):c.*597C>T http://identifiers.org/clinvar/343729 ^@ NM_032383.4(HPS3):c.*129_*134delCACACA http://identifiers.org/clinvar/342840 ^@ NM_053025.3(MYLK):c.*960C>T http://identifiers.org/clinvar/335443 ^@ NM_194248.2(OTOF):c.2788C>G (p.Pro930Ala) http://identifiers.org/clinvar/343879 ^@ NM_004733.3(SLC33A1):c.904T>C (p.Phe302Leu) http://identifiers.org/clinvar/335743 ^@ NM_000379.3(XDH):c.*938G>T http://identifiers.org/clinvar/354495 ^@ NM_004385.4(VCAN):c.*1601T>A http://identifiers.org/clinvar/350569 ^@ NM_001182.4(ALDH7A1):c.*898_*900delGAG http://identifiers.org/clinvar/350619 ^@ NM_005573.3(LMNB1):c.1492-11G>T http://identifiers.org/clinvar/354645 ^@ NM_000439.4(PCSK1):c.1414A>G (p.Asn472Asp) http://identifiers.org/clinvar/357585 ^@ NM_001723.5(DST):c.3715C>T (p.Arg1239Cys) http://identifiers.org/clinvar/350869 ^@ NM_000358.2(TGFBI):c.283A>G (p.Lys95Glu) http://identifiers.org/clinvar/354845 ^@ NM_007214.4(SEC63):c.*2522G>C http://identifiers.org/clinvar/354895 ^@ NM_007214.4(SEC63):c.1936-5dupT http://identifiers.org/clinvar/350919 ^@ NM_001369.2(DNAH5):c.13747T>C (p.Ser4583Pro) http://identifiers.org/clinvar/351119 ^@ NM_199189.2(MATR3):c.-5C>G http://identifiers.org/clinvar/355045 ^@ NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) http://identifiers.org/clinvar/358235 ^@ NM_020320.4(RARS2):c.783A>G (p.Val261=) http://identifiers.org/clinvar/355096 ^@ NM_000493.3(COL10A1):c.1255G>A (p.Gly419Ser) http://identifiers.org/clinvar/358335 ^@ NM_000602.4(SERPINE1):c.*1443C>A http://identifiers.org/clinvar/355146 ^@ NM_002667.4(PLN):c.*877T>C http://identifiers.org/clinvar/351319 ^@ NM_001018077.1(NR3C1):c.*3319G>C http://identifiers.org/clinvar/355396 ^@ NM_006208.2(ENPP1):c.*1795A>T http://identifiers.org/clinvar/351419 ^@ NM_054027.4(ANKH):c.*4182T>G http://identifiers.org/clinvar/355446 ^@ NM_172105.3(EYA4):c.1107+10C>G http://identifiers.org/clinvar/355646 ^@ NM_003764.3(STX11):c.*3103_*3104delTT http://identifiers.org/clinvar/355746 ^@ NM_203395.2(IYD):c.*2886T>C http://identifiers.org/clinvar/352056 ^@ NM_000112.3(SLC26A2):c.*2003A>G http://identifiers.org/clinvar/352106 ^@ NM_005211.3(CSF1R):c.*531C>T http://identifiers.org/clinvar/352156 ^@ NM_005211.3(CSF1R):c.1111C>T (p.Leu371=) http://identifiers.org/clinvar/352306 ^@ NM_000171.3(GLRA1):c.1224C>T (p.Phe408=) http://identifiers.org/clinvar/352356 ^@ NM_000337.5(SGCD):c.*1846_*1847dupTT http://identifiers.org/clinvar/356535 ^@ NM_182548.3(LHFPL5):c.*510_*512delACAinsTCTCTCTCT http://identifiers.org/clinvar/356585 ^@ NM_001145717.1(PNPLA1):c.*636G>A http://identifiers.org/clinvar/352256 ^@ NM_000405.4(GM2A):c.*144T>C http://identifiers.org/clinvar/356685 ^@ NM_000409.4(GUCA1A):c.-465G>T http://identifiers.org/clinvar/352656 ^@ NM_000816.3(GABRG2):c.*661T>A http://identifiers.org/clinvar/352506 ^@ NM_001099287.1(NIPAL4):c.296T>C (p.Val99Ala) http://identifiers.org/clinvar/352706 ^@ NM_012188.4(FOXI1):c.822C>T (p.Gly274=) http://identifiers.org/clinvar/353056 ^@ NM_014244.4(ADAMTS2):c.*1819G>A http://identifiers.org/clinvar/357385 ^@ NM_138694.3(PKHD1):c.*1381G>C http://identifiers.org/clinvar/357685 ^@ NM_001142800.1(EYS):c.9237A>G (p.Leu3079=) http://identifiers.org/clinvar/353556 ^@ NM_002310.5(LIFR):c.*4024G>A http://identifiers.org/clinvar/357735 ^@ NM_001142800.1(EYS):c.2023+15dupT http://identifiers.org/clinvar/357835 ^@ NM_014989.5(RIMS1):c.928C>G (p.Arg310Gly) http://identifiers.org/clinvar/361644 ^@ NM_014112.4(TRPS1):c.-320_-319delTT http://identifiers.org/clinvar/364033 ^@ NM_001001557.3(GDF6):c.*271_*272insC http://identifiers.org/clinvar/306569 ^@ NM_030962.3(SBF2):c.*177A>C http://identifiers.org/clinvar/306919 ^@ NM_000277.1(PAH):c.-455delG http://identifiers.org/clinvar/307019 ^@ NM_052845.3(MMAB):c.*1952T>C http://identifiers.org/clinvar/307119 ^@ NM_021625.4(TRPV4):c.*99C>T http://identifiers.org/clinvar/307169 ^@ NM_001681.3(ATP2A2):c.1122T>C (p.Gly374=) http://identifiers.org/clinvar/307269 ^@ NM_000192.3(TBX5):c.*1385delT http://identifiers.org/clinvar/307419 ^@ NM_014365.2(HSPB8):c.552C>T (p.Asn184=) http://identifiers.org/clinvar/307469 ^@ NM_000545.6(HNF1A):c.*447T>A http://identifiers.org/clinvar/307519 ^@ NM_001414.3(EIF2B1):c.*426G>C http://identifiers.org/clinvar/300875 ^@ NM_012330.3(KAT6B):c.3231C>T (p.Asp1077=) http://identifiers.org/clinvar/300925 ^@ NM_002247.3(KCNMA1):c.*2117G>T http://identifiers.org/clinvar/300975 ^@ NM_002247.3(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) http://identifiers.org/clinvar/301025 ^@ NM_007055.3(POLR3A):c.*469T>C http://identifiers.org/clinvar/365022 ^@ NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) http://identifiers.org/clinvar/301075 ^@ NM_007055.3(POLR3A):c.1041A>C (p.Gly347=) http://identifiers.org/clinvar/308019 ^@ NM_002300.7(LDHB):c.713+15A>G http://identifiers.org/clinvar/301175 ^@ NM_000429.2(MAT1A):c.*569C>G http://identifiers.org/clinvar/308119 ^@ NM_004985.4(KRAS):c.*404T>C http://identifiers.org/clinvar/365272 ^@ NM_007171.3(POMT1):c.-30G>A http://identifiers.org/clinvar/301125 ^@ NM_001002295.1(GATA3):c.840G>C (p.Thr280=) http://identifiers.org/clinvar/301225 ^@ NM_033100.3(CDHR1):c.783+3G>A http://identifiers.org/clinvar/365372 ^@ NM_015046.5(SETX):c.1391C>T (p.Ser464Leu) http://identifiers.org/clinvar/365072 ^@ NM_003165.3(STXBP1):c.*1596G>A http://identifiers.org/clinvar/301275 ^@ NM_033100.3(CDHR1):c.*599_*602delTAGA http://identifiers.org/clinvar/365472 ^@ NM_000368.4(TSC1):c.*1541dupT http://identifiers.org/clinvar/365522 ^@ NM_000368.4(TSC1):c.-166A>G http://identifiers.org/clinvar/301575 ^@ NM_000235.3(LIPA):c.891C>T (p.Ser297=) http://identifiers.org/clinvar/301725 ^@ NM_016341.3(PLCE1):c.4924G>A (p.Asp1642Asn) http://identifiers.org/clinvar/301775 ^@ NM_002860.3(ALDH18A1):c.492C>T (p.Ala164=) http://identifiers.org/clinvar/365572 ^@ NM_014694.3(ADAMTSL2):c.255C>T (p.Pro85=) http://identifiers.org/clinvar/365622 ^@ NM_014694.3(ADAMTSL2):c.*496C>T http://identifiers.org/clinvar/309458 ^@ NM_000020.2(ACVRL1):c.*879G>T http://identifiers.org/clinvar/366123 ^@ NM_144966.5(FREM1):c.4377T>C (p.Asp1459=) http://identifiers.org/clinvar/302025 ^@ NM_001080463.1(DYNC2H1):c.3419G>T (p.Gly1140Val) http://identifiers.org/clinvar/309558 ^@ NM_000424.3(KRT5):c.1554C>A (p.Gly518=) http://identifiers.org/clinvar/366223 ^@ NM_203447.3(DOCK8):c.-105G>T http://identifiers.org/clinvar/365872 ^@ NM_019892.5(INPP5E):c.*721C>T http://identifiers.org/clinvar/310358 ^@ NM_000365.5(TPI1):c.239+8C>A http://identifiers.org/clinvar/366273 ^@ NM_002451.3(MTAP):c.*1140A>G http://identifiers.org/clinvar/302675 ^@ NM_000732.4(CD3D):c.-46T>C http://identifiers.org/clinvar/322126 ^@ NM_016239.3(MYO15A):c.2670C>T (p.Pro890=) http://identifiers.org/clinvar/340801 ^@ NM_017929.5(PEX26):c.*1859A>C http://identifiers.org/clinvar/314801 ^@ NM_198309.3(TTC8):c.875A>G (p.Tyr292Cys) http://identifiers.org/clinvar/313212 ^@ NM_020937.3(FANCM):c.3758A>T (p.Asn1253Ile) http://identifiers.org/clinvar/313362 ^@ NM_000161.2(GCH1):c.*1479G>T http://identifiers.org/clinvar/313562 ^@ NM_182914.2(SYNE2):c.11906G>A (p.Arg3969Gln) http://identifiers.org/clinvar/315501 ^@ NM_002420.5(TRPM1):c.3686A>C (p.Asn1229Thr) http://identifiers.org/clinvar/341940 ^@ NM_025225.2(PNPLA3):c.992A>G (p.Glu331Gly) http://identifiers.org/clinvar/315551 ^@ NM_133647.1(SLC12A6):c.*3400C>T http://identifiers.org/clinvar/341990 ^@ NM_018006.4(TRMU):c.-312G>A http://identifiers.org/clinvar/313712 ^@ NM_000347.5(SPTB):c.5456A>T (p.Glu1819Val) http://identifiers.org/clinvar/315751 ^@ NM_152594.2(SPRED1):c.*1400G>A http://identifiers.org/clinvar/342240 ^@ NM_000487.5(ARSA):c.25C>T (p.Leu9Phe) http://identifiers.org/clinvar/314012 ^@ NM_031427.3(DNAL1):c.-100T>A http://identifiers.org/clinvar/315901 ^@ NM_000070.2(CAPN3):c.*211G>A http://identifiers.org/clinvar/316001 ^@ NM_173500.3(TTBK2):c.-130G>C http://identifiers.org/clinvar/367991 ^@ NM_001011658.3(TRAPPC2):c.*323T>G http://identifiers.org/clinvar/316051 ^@ NM_201631.3(TGM5):c.989A>T (p.Lys330Met) http://identifiers.org/clinvar/368191 ^@ NM_014271.3(IL1RAPL1):c.83-6C>T http://identifiers.org/clinvar/368391 ^@ NM_007137.3(ZNF81):c.147A>G (p.Val49=) http://identifiers.org/clinvar/368591 ^@ NM_000032.4(ALAS2):c.1626G>A (p.Ala542=) http://identifiers.org/clinvar/314851 ^@ NM_018319.3(TDP1):c.*904C>T http://identifiers.org/clinvar/317040 ^@ NM_000520.5(HEXA):c.*12C>T http://identifiers.org/clinvar/315051 ^@ NM_177438.2(DICER1):c.*3366C>T http://identifiers.org/clinvar/315301 ^@ NM_139057.3(ADAMTS17):c.1145A>G (p.Asn382Ser) http://identifiers.org/clinvar/315351 ^@ NM_144599.4(NIPA1):c.*4147C>T http://identifiers.org/clinvar/317541 ^@ NM_000875.4(IGF1R):c.*2858_*2860delGTT http://identifiers.org/clinvar/317591 ^@ NM_000875.4(IGF1R):c.*4792C>T http://identifiers.org/clinvar/325334 ^@ NM_004035.6(ACOX1):c.*2625T>C http://identifiers.org/clinvar/315201 ^@ NM_139057.3(ADAMTS17):c.*1014_*1019delAGCCCA http://identifiers.org/clinvar/325384 ^@ NM_004035.6(ACOX1):c.867T>C (p.Ala289=) http://identifiers.org/clinvar/315951 ^@ NM_138477.2(CDAN1):c.774-3T>C http://identifiers.org/clinvar/316101 ^@ NM_025137.3(SPG11):c.2317-13C>G http://identifiers.org/clinvar/325734 ^@ NM_017950.3(CCDC40):c.1739A>G (p.Gln580Arg) http://identifiers.org/clinvar/318041 ^@ NM_014714.3(IFT140):c.2908G>A (p.Glu970Lys) http://identifiers.org/clinvar/325785 ^@ NM_000152.4(GAA):c.1075+12T>G http://identifiers.org/clinvar/325835 ^@ NM_000199.3(SGSH):c.1063G>A (p.Glu355Lys) http://identifiers.org/clinvar/325885 ^@ NM_001139.2(ALOX12B):c.1004A>G (p.His335Arg) http://identifiers.org/clinvar/373701 ^@ NM_003070.4(SMARCA2):c.3849G>T (p.Trp1283Cys) http://identifiers.org/clinvar/373651 ^@ NM_005159.4(ACTC1):c.908G>T (p.Gly303Val) http://identifiers.org/clinvar/374104 ^@ NM_002977.3(SCN9A):c.1642C>T (p.Arg548Ter) http://identifiers.org/clinvar/374154 ^@ NM_000296.3(PKD1):c.3019G>A (p.Val1007Met) http://identifiers.org/clinvar/374204 ^@ NM_000267.3(NF1):c.5750-1G>A http://identifiers.org/clinvar/374393 ^@ NM_018486.2(HDAC8):c.527A>G (p.Asp176Gly) http://identifiers.org/clinvar/374258 ^@ NM_153252.4(BRWD3):c.568C>T (p.Arg190Ter) http://identifiers.org/clinvar/374328 ^@ NM_000451.3(SHOX):c.544+1G>A http://identifiers.org/clinvar/374446 ^@ NM_032409.2(PINK1):c.169C>T (p.Arg57Cys) http://identifiers.org/clinvar/374496 ^@ NM_002335.3(LRP5):c.2608C>T (p.Arg870Trp) http://identifiers.org/clinvar/374546 ^@ NM_001197104.1(KMT2A):c.2515dupT (p.Thr840Tyrfs) http://identifiers.org/clinvar/374596 ^@ NM_001035.2(RYR2):c.5012G>A (p.Arg1671Gln) http://identifiers.org/clinvar/374646 ^@ NM_020822.2(KCNT1):c.3691G>A (p.Asp1231Asn) http://identifiers.org/clinvar/374696 ^@ NM_014989.5(RIMS1):c.3194+1G>A http://identifiers.org/clinvar/374746 ^@ NM_152722.4(HEPACAM):c.803+8T>C http://identifiers.org/clinvar/374806 ^@ NM_004429.4(EFNB1):c.561delC (p.Asn187Lysfs) http://identifiers.org/clinvar/374856 ^@ NM_007198.3(PLPBP):c.260C>T (p.Pro87Leu) http://identifiers.org/clinvar/374915 ^@ NM_001128608.1(MAPKBP1):c.592C>T (p.Arg198Ter) http://identifiers.org/clinvar/374973 ^@ NM_000540.2(RYR1):c.12251G>A (p.Arg4084His) http://identifiers.org/clinvar/375248 ^@ NM_018082.5(POLR3B):c.2774C>T (p.Pro925Leu) http://identifiers.org/clinvar/375305 ^@ NM_015365.2(AMMECR1):c.502C>T (p.Arg168Ter) http://identifiers.org/clinvar/375359 ^@ NM_000520.5(HEXA):c.898_905delTTCATGAG (p.Phe300Hisfs) http://identifiers.org/clinvar/375410 ^@ NM_000341.3(SLC3A1):c.1750delA (p.Arg584Glufs) http://identifiers.org/clinvar/375471 ^@ NM_003156.3(STIM1):c.221T>C (p.Leu74Pro) http://identifiers.org/clinvar/375533 ^@ NM_000833.4(GRIN2A):c.1138A>G (p.Asn380Asp) http://identifiers.org/clinvar/375594 ^@ NM_000218.2(KCNQ1):c.835T>A (p.Phe279Ile) http://identifiers.org/clinvar/375651 ^@ NM_012186.2(FOXE3):c.457G>C (p.Asp153His) http://identifiers.org/clinvar/375740 ^@ NM_001330069.1(PRKD1):c.1798G>A (p.Gly600Arg) http://identifiers.org/clinvar/375845 ^@ NM_174936.3(PCSK9):c.616G>A (p.Glu206Lys) http://identifiers.org/clinvar/375795 ^@ NM_000527.4(LDLR):c.666_682dup17 (p.Glu228Alafs) http://identifiers.org/clinvar/375898 ^@ NM_006218.3(PIK3CA):c.1637A>C (p.Gln546Pro) http://identifiers.org/clinvar/381797 ^@ NM_000251.2(MSH2):c.1620T>C (p.Ser540=) http://identifiers.org/clinvar/386592 ^@ NM_000179.2(MSH6):c.4074G>A (p.Lys1358=) http://identifiers.org/clinvar/393119 ^@ NM_003494.3(DYSF):c.3853C>T (p.His1285Tyr) http://identifiers.org/clinvar/379754 ^@ NM_006371.4(CRTAP):c.622-16T>C http://identifiers.org/clinvar/386492 ^@ NM_002880.3(RAF1):c.1194-9C>T http://identifiers.org/clinvar/380456 ^@ NM_015662.2(IFT172):c.571-15C>G http://identifiers.org/clinvar/385492 ^@ NM_001130964.1(PLCD1):c.1755C>T (p.Pro585=) http://identifiers.org/clinvar/386342 ^@ NM_001148.4(ANK2):c.3175T>C (p.Leu1059=) http://identifiers.org/clinvar/388081 ^@ NM_000179.2(MSH6):c.807T>C (p.Thr269=) http://identifiers.org/clinvar/381397 ^@ NM_033109.4(PNPT1):c.2149-19T>C http://identifiers.org/clinvar/383200 ^@ NM_000038.5(APC):c.1549-9A>C http://identifiers.org/clinvar/386542 ^@ NM_001148.4(ANK2):c.3662C>G (p.Thr1221Ser) http://identifiers.org/clinvar/391280 ^@ NM_001148.4(ANK2):c.10017G>A (p.Ala3339=) http://identifiers.org/clinvar/392480 ^@ NM_001128174.2(UGT8):c.811C>T (p.Pro271Ser) http://identifiers.org/clinvar/377855 ^@ NM_024582.4(FAT4):c.4305C>T (p.Ile1435=) http://identifiers.org/clinvar/392230 ^@ NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) http://identifiers.org/clinvar/391680 ^@ NM_080916.2(DGUOK):c.*1C>T http://identifiers.org/clinvar/391980 ^@ NM_002887.3(RARS):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/379454 ^@ NM_173653.3(SLC9A9):c.918T>C (p.Cys306=) http://identifiers.org/clinvar/387581 ^@ NM_000806.5(GABRA1):c.476+19C>T http://identifiers.org/clinvar/377905 ^@ NM_000816.3(GABRG2):c.769+18A>G http://identifiers.org/clinvar/380005 ^@ NM_002887.3(RARS):c.1497G>A (p.Ala499=) http://identifiers.org/clinvar/386042 ^@ NM_178862.2(STT3B):c.1824C>T (p.Gly608=) http://identifiers.org/clinvar/386192 ^@ NM_033071.3(SYNE1):c.16683+12A>G http://identifiers.org/clinvar/386742 ^@ NM_133433.3(NIPBL):c.5472G>A (p.Ser1824=) http://identifiers.org/clinvar/382349 ^@ NM_018100.3(EFHC1):c.627T>C (p.Leu209=) http://identifiers.org/clinvar/391780 ^@ NM_033071.3(SYNE1):c.14940G>A (p.Glu4980=) http://identifiers.org/clinvar/379604 ^@ NM_032861.3(SERAC1):c.917G>A (p.Arg306Gln) http://identifiers.org/clinvar/391530 ^@ NM_006158.4(NEFL):c.1011G>A (p.Glu337=) http://identifiers.org/clinvar/377705 ^@ NM_014141.5(CNTNAP2):c.1032C>T (p.Gly344=) http://identifiers.org/clinvar/377955 ^@ NM_000238.3(KCNH2):c.1437C>T (p.Asn479=) http://identifiers.org/clinvar/381547 ^@ NM_001369.2(DNAH5):c.11583C>A (p.Ser3861Arg) http://identifiers.org/clinvar/379855 ^@ NM_003165.3(STXBP1):c.579-2A>G http://identifiers.org/clinvar/380055 ^@ NM_002887.3(RARS):c.1190T>A (p.Phe397Tyr) http://identifiers.org/clinvar/391480 ^@ NM_133433.3(NIPBL):c.6845A>G (p.Tyr2282Cys) http://identifiers.org/clinvar/383752 ^@ NM_000501.3(ELN):c.1671C>T (p.Val557=) http://identifiers.org/clinvar/386242 ^@ NM_020822.2(KCNT1):c.1431C>T (p.Ala477=) http://identifiers.org/clinvar/383651 ^@ NM_000445.4(PLEC):c.2820+19C>T http://identifiers.org/clinvar/390780 ^@ NM_020822.2(KCNT1):c.3177+16G>A http://identifiers.org/clinvar/392280 ^@ NM_033071.3(SYNE1):c.21663A>G (p.Gly7221=) http://identifiers.org/clinvar/387881 ^@ NM_004408.3(DNM1):c.1197-15G>A http://identifiers.org/clinvar/380155 ^@ NM_001167734.1(VARS2):c.1443G>A (p.Leu481=) http://identifiers.org/clinvar/382600 ^@ NM_152416.3(NDUFAF6):c.197+18T>G http://identifiers.org/clinvar/391580 ^@ NM_004370.5(COL12A1):c.856C>G (p.Gln286Glu) http://identifiers.org/clinvar/392630 ^@ NM_002291.2(LAMB1):c.1370-13T>G http://identifiers.org/clinvar/133486 ^@ NM_152424.3(AMER1):c.1154_1162delAAGAAGAGG (p.Glu385_Glu387del) http://identifiers.org/clinvar/133537 ^@ NM_000038.5(APC):c.8332G>T (p.Ala2778Ser) http://identifiers.org/clinvar/133587 ^@ NM_015338.5(ASXL1):c.3817C>T (p.Arg1273Cys) http://identifiers.org/clinvar/133637 ^@ NM_000051.3(ATM):c.8545C>T (p.Arg2849Ter) http://identifiers.org/clinvar/133687 ^@ NM_001123383.1(BCOR):c.305G>C (p.Arg102Pro) http://identifiers.org/clinvar/133738 ^@ NM_000059.3(BRCA2):c.7397C= (p.Ala2466=) http://identifiers.org/clinvar/133791 ^@ NM_032415.5(CARD11):c.2060C>T (p.Ala687Val) http://identifiers.org/clinvar/133841 ^@ NM_024529.4(CDC73):c.1149C>A (p.Asp383Glu) http://identifiers.org/clinvar/133891 ^@ NM_007194.3(CHEK2):c.1333T>C (p.Tyr445His) http://identifiers.org/clinvar/133941 ^@ NM_004380.2(CREBBP):c.1514C>T (p.Pro505Leu) http://identifiers.org/clinvar/133991 ^@ NM_001077706.2(ECT2L):c.1670_1671insAAT (p.Ile558_Leu559insIle) http://identifiers.org/clinvar/134041 ^@ NM_001429.3(EP300):c.316A>G (p.Ser106Gly) http://identifiers.org/clinvar/134093 ^@ NM_000400.3(ERCC2):c.1489C>T (p.Arg497Cys) http://identifiers.org/clinvar/134143 ^@ NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) http://identifiers.org/clinvar/134193 ^@ NM_000123.3(ERCC5):c.1259G>A (p.Arg420His) http://identifiers.org/clinvar/134243 ^@ NM_000135.2(FANCA):c.1549C>T (p.Arg517Trp) http://identifiers.org/clinvar/134294 ^@ NM_000135.2(FANCA):c.796A>G (p.Thr266Ala) http://identifiers.org/clinvar/134344 ^@ NM_021922.2(FANCE):c.1509C>T (p.Asn503=) http://identifiers.org/clinvar/134395 ^@ NM_000142.4(FGFR3):c.184C>G (p.Pro62Ala) http://identifiers.org/clinvar/134445 ^@ NM_004119.2(FLT3):c.605A>G (p.Gln202Arg) http://identifiers.org/clinvar/134495 ^@ NM_080425.3(GNAS):c.11G>A (p.Arg4His) http://identifiers.org/clinvar/134545 ^@ NM_002227.3(JAK1):c.2469C>T (p.Leu823=) http://identifiers.org/clinvar/134748 ^@ NM_170606.2(KMT2C):c.4154A>G (p.Asn1385Ser) http://identifiers.org/clinvar/134798 ^@ NM_170606.2(KMT2C):c.11149G>C (p.Glu3717Gln) http://identifiers.org/clinvar/134850 ^@ NM_000179.2(MSH6):c.2362A>G (p.Ile788Val) http://identifiers.org/clinvar/134902 ^@ NM_006164.4(NFE2L2):c.1106C>T (p.Thr369Ile) http://identifiers.org/clinvar/134952 ^@ NM_017617.4(NOTCH1):c.6769G>A (p.Ala2257Thr) http://identifiers.org/clinvar/136023 ^@ NM_002354.2(EPCAM):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/136074 ^@ NM_005359.5(SMAD4):c.1653A>G (p.Leu551=) http://identifiers.org/clinvar/136124 ^@ NM_020975.4(RET):c.757G>A (p.Val253Met) http://identifiers.org/clinvar/136175 ^@ NM_133647.1(SLC12A6):c.1584_1585delCTinsG (p.Phe529Leufs) http://identifiers.org/clinvar/136235 ^@ NM_000350.2(ABCA4):c.6069T>C (p.Ile2023=) http://identifiers.org/clinvar/136286 ^@ NM_001103.3(ACTN2):c.1704G>A (p.Ala568=) http://identifiers.org/clinvar/136337 ^@ NM_005751.4(AKAP9):c.7275G>A (p.Gln2425=) http://identifiers.org/clinvar/136388 ^@ NM_001148.4(ANK2):c.2900+5135G>A http://identifiers.org/clinvar/186928 ^@ NM_001042492.2(NF1):c.7298C>T (p.Thr2433Ile) http://identifiers.org/clinvar/187328 ^@ NM_002878.3(RAD51D):c.570C>T (p.Ala190=) http://identifiers.org/clinvar/186828 ^@ NM_058216.2(RAD51C):c.890T>C (p.Leu297Pro) http://identifiers.org/clinvar/187378 ^@ NM_032043.2(BRIP1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/183926 ^@ NM_005359.5(SMAD4):c.231A>G (p.Thr77=) http://identifiers.org/clinvar/184127 ^@ NM_000455.4(STK11):c.396C>T (p.Cys132=) http://identifiers.org/clinvar/184077 ^@ NM_007194.3(CHEK2):c.573G>C (p.Leu191=) http://identifiers.org/clinvar/187911 ^@ NM_004409.4(DMPK):c.*224_*226[1140] http://identifiers.org/clinvar/187961 ^@ NM_004409.4(DMPK):c.*224_*226[345] http://identifiers.org/clinvar/188011 ^@ NM_004409.4(DMPK):c.*224_*226[594] http://identifiers.org/clinvar/188112 ^@ NM_001127500.2(MET):c.40C>T (p.Leu14Phe) http://identifiers.org/clinvar/188061 ^@ NM_000264.3(PTCH1):c.1942C>G (p.His648Asp) http://identifiers.org/clinvar/189072 ^@ NM_000060.4(BTD):c.202_205dupATCC (p.Leu69Hisfs) http://identifiers.org/clinvar/189122 ^@ NM_000128.3(F11):c.67C>T (p.Gln23Ter) http://identifiers.org/clinvar/188971 ^@ NM_000466.2(PEX1):c.2730delA (p.Leu910Phefs) http://identifiers.org/clinvar/189022 ^@ NM_000136.2(FANCC):c.520C>T (p.Arg174Ter) http://identifiers.org/clinvar/189172 ^@ NM_000152.4(GAA):c.1979G>A (p.Arg660His) http://identifiers.org/clinvar/189239 ^@ NM_001166686.1(PFKM):c.450+1G>A http://identifiers.org/clinvar/189291 ^@ NM_000894.2(LHB):c.88_96delCACCCCATC (p.His30_Ile32del) http://identifiers.org/clinvar/189351 ^@ NM_025216.2(WNT10A):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/192373 ^@ NM_004990.3(MARS):c.1031A>G (p.Tyr344Cys) http://identifiers.org/clinvar/189502 ^@ NM_000314.6(PTEN):c.604A>T (p.Thr202Ser) http://identifiers.org/clinvar/189440 ^@ NM_000314.6(PTEN):c.955dupA (p.Thr319Asnfs) http://identifiers.org/clinvar/189612 ^@ NM_005249.4(FOXG1):c.256delC (p.Gln86Argfs) http://identifiers.org/clinvar/189562 ^@ NM_003159.2(CDKL5):c.-162-?_145+?del http://identifiers.org/clinvar/189662 ^@ NM_004992.3(MECP2):c.1159_1210del52 (p.Pro387Serfs) http://identifiers.org/clinvar/189712 ^@ NM_004992.3(MECP2):c.502C>A (p.Arg168=) http://identifiers.org/clinvar/189762 ^@ NM_001110792.1(MECP2):c.15_23dupCGCCGCCGC (p.Ala8_Pro9insAlaAlaAla) http://identifiers.org/clinvar/189896 ^@ NM_001165963.1(SCN1A):c.5674C>T (p.Arg1892Ter) http://identifiers.org/clinvar/189946 ^@ NM_001165963.1(SCN1A):c.5334delG (p.Asn1779Thrfs) http://identifiers.org/clinvar/189846 ^@ NM_001165963.1(SCN1A):c.4302G>A (p.Trp1434Ter) http://identifiers.org/clinvar/189996 ^@ NM_001165963.1(SCN1A):c.1259C>T (p.Ala420Val) http://identifiers.org/clinvar/190117 ^@ NM_004935.3(CDK5):c.580+1G>A http://identifiers.org/clinvar/190181 ^@ NM_001110556.1(FLNA):c.1061_1065delATAAG (p.His354Argfs) http://identifiers.org/clinvar/190232 ^@ NM_001199.3(BMP1):c.2107G>C (p.Glu703Gln) http://identifiers.org/clinvar/190313 ^@ NM_014225.5(PPP2R1A):c.536C>T (p.Pro179Leu) http://identifiers.org/clinvar/190365 ^@ NM_002055.4(GFAP):c.1249delG (p.Asp417Metfs) http://identifiers.org/clinvar/190455 ^@ NM_001373.1(DNAH14):c.3755T>A (p.Met1252Lys) http://identifiers.org/clinvar/228677 ^@ NM_000503.5(EYA1):c.1426G>A (p.Asp476Asn) http://identifiers.org/clinvar/227737 ^@ NM_006393.2(NEBL):c.480+11G>A http://identifiers.org/clinvar/228977 ^@ NM_017433.4(MYO3A):c.168C>T (p.His56=) http://identifiers.org/clinvar/227005 ^@ NM_001142771.1(PCDH15):c.4982A>C (p.Gln1661Pro) http://identifiers.org/clinvar/227837 ^@ NM_001142771.1(PCDH15):c.4717C>T (p.Leu1573=) http://identifiers.org/clinvar/227787 ^@ NM_001277269.1(OTOG):c.563G>C (p.Ser188Thr) http://identifiers.org/clinvar/226905 ^@ NM_001277269.1(OTOG):c.7098T>C (p.Ser2366=) http://identifiers.org/clinvar/227156 ^@ NM_005691.3(ABCC9):c.1164+10G>A http://identifiers.org/clinvar/226955 ^@ NM_173591.3(OTOGL):c.5280T>C (p.Tyr1760=) http://identifiers.org/clinvar/229277 ^@ NM_153700.2(STRC):c.2914C>T (p.Arg972Trp) http://identifiers.org/clinvar/227637 ^@ NM_016239.3(MYO15A):c.2562C>T (p.Cys854=) http://identifiers.org/clinvar/229027 ^@ NM_003803.3(MYOM1):c.4586A>G (p.Tyr1529Cys) http://identifiers.org/clinvar/226805 ^@ NM_003803.3(MYOM1):c.1843+10T>G http://identifiers.org/clinvar/228827 ^@ NM_144612.6(LOXHD1):c.4423G>T (p.Gly1475Trp) http://identifiers.org/clinvar/227056 ^@ NM_000540.2(RYR1):c.297G>A (p.Thr99=) http://identifiers.org/clinvar/226505 ^@ NM_001039213.3(CEACAM16):c.1278A>G (p.Ter426=) http://identifiers.org/clinvar/228877 ^@ NM_001145809.1(MYH14):c.4297G>A (p.Glu1433Lys) http://identifiers.org/clinvar/229327 ^@ NM_024022.2(TMPRSS3):c.677C>T (p.Ser226Leu) http://identifiers.org/clinvar/228927 ^@ NM_002473.5(MYH9):c.4050G>C (p.Glu1350Asp) http://identifiers.org/clinvar/226555 ^@ NM_000395.2(CSF2RB):c.745G>C (p.Glu249Gln) http://identifiers.org/clinvar/227687 ^@ NM_000260.3(MYO7A):c.593-4G>A http://identifiers.org/clinvar/229377 ^@ NM_144991.2(TSPEAR):c.364C>T (p.Arg122Trp) http://identifiers.org/clinvar/234655 ^@ NM_018136.4(ASPM):c.4422G>A (p.Trp1474Ter) http://identifiers.org/clinvar/234805 ^@ NM_001034850.2(RETREG1):c.44C>T (p.Pro15Leu) http://identifiers.org/clinvar/234906 ^@ NM_000535.6(PMS2):c.2012C>G (p.Thr671Arg) http://identifiers.org/clinvar/234504 ^@ NM_000136.2(FANCC):c.1425A>G (p.Thr475=) http://identifiers.org/clinvar/234705 ^@ NM_000834.3(GRIN2B):c.876A>G (p.Arg292=) http://identifiers.org/clinvar/234856 ^@ NM_000059.3(BRCA2):c.6859A>G (p.Arg2287Gly) http://identifiers.org/clinvar/234755 ^@ NM_000257.3(MYH7):c.1831A>C (p.Lys611Gln) http://identifiers.org/clinvar/234605 ^@ NM_000304.3(PMP22):c.447C>A (p.Ser149Arg) http://identifiers.org/clinvar/234555 ^@ NM_000214.2(JAG1):c.765C>G (p.Tyr255Ter) http://identifiers.org/clinvar/230768 ^@ NM_000251.2(MSH2):c.-68-63C>A http://identifiers.org/clinvar/230718 ^@ NM_000179.2(MSH6):c.1384C>A (p.Pro462Thr) http://identifiers.org/clinvar/229879 ^@ NM_000179.2(MSH6):c.2857G>A (p.Glu953Lys) http://identifiers.org/clinvar/229829 ^@ NM_000179.2(MSH6):c.2882G>C (p.Arg961Thr) http://identifiers.org/clinvar/229929 ^@ NM_000179.2(MSH6):c.3806G>C (p.Cys1269Ser) http://identifiers.org/clinvar/263553 ^@ NM_000891.2(KCNJ2):c.213C>T (p.Asp71=) http://identifiers.org/clinvar/263502 ^@ NM_001943.4(DSG2):c.1847C>T (p.Ala616Val) http://identifiers.org/clinvar/265790 ^@ NM_001415.3(EIF2S3):c.324T>A (p.Ser108Arg) http://identifiers.org/clinvar/265890 ^@ NM_000384.2(APOB):c.10131G>A (p.Leu3377=) http://identifiers.org/clinvar/266051 ^@ NM_012224.2(NEK1):c.2151T>G (p.Asn717Lys) http://identifiers.org/clinvar/266122 ^@ NM_003482.3(KMT2D):c.6765G>A (p.Leu2255=) http://identifiers.org/clinvar/267111 ^@ NM_000059.3(BRCA2):c.8850_8851dupGG (p.Ala2951Glyfs) http://identifiers.org/clinvar/267161 ^@ NM_000059.3(BRCA2):c.9423delA (p.Asp3142Ilefs) http://identifiers.org/clinvar/266422 ^@ NM_007294.3(BRCA1):c.3961delT (p.Ser1321Profs) http://identifiers.org/clinvar/266372 ^@ NM_007294.3(BRCA1):c.3478_3479delAA (p.Lys1160Glyfs) http://identifiers.org/clinvar/266322 ^@ NM_007294.3(BRCA1):c.2959A>T (p.Lys987Ter) http://identifiers.org/clinvar/266272 ^@ NM_007294.3(BRCA1):c.2524dupG (p.Glu842Glyfs) http://identifiers.org/clinvar/266222 ^@ NM_007294.3(BRCA1):c.2127delT (p.Phe709Leufs) http://identifiers.org/clinvar/266172 ^@ NM_007294.3(BRCA1):c.1505T>G (p.Leu502Ter) http://identifiers.org/clinvar/267231 ^@ NM_015247.2(CYLD):c.987_988dupAG (p.Gly330Glufs) http://identifiers.org/clinvar/267292 ^@ NM_002317.6(LOX):c.125G>A (p.Trp42Ter) http://identifiers.org/clinvar/267378 ^@ c.7926A>C http://identifiers.org/clinvar/267432 ^@ NM_017780.3(CHD7):c.4849G>A (p.Gly1617Ser) http://identifiers.org/clinvar/267668 ^@ NM_000059.3(BRCA2):c.6938-2A>C http://identifiers.org/clinvar/267718 ^@ NM_000059.3(BRCA2):c.9118-2A>T http://identifiers.org/clinvar/267518 ^@ NM_007294.3(BRCA1):c.302-?_593+?del http://identifiers.org/clinvar/267568 ^@ NM_007294.3(BRCA1):c.4987-5T>C http://identifiers.org/clinvar/267618 ^@ NM_007294.3(BRCA1):c.671-2A>T http://identifiers.org/clinvar/267797 ^@ 46;XX;inv(2)(p11q13)dn http://identifiers.org/clinvar/267848 ^@ 46;XY;t(3;10)(p26.3;q26.3)dn http://identifiers.org/clinvar/267898 ^@ 46;XY;inv(7)(p15q34)mat http://identifiers.org/clinvar/267948 ^@ 46;XY;t(6;9)(q16.2;q13)dn http://identifiers.org/clinvar/267998 ^@ 46;XY;inv(1)(q25.3q31.2).ish http://identifiers.org/clinvar/268048 ^@ NM_080675.3(SUN5):c.1066C>T (p.Arg356Cys) http://identifiers.org/clinvar/268114 ^@ NM_024298.4(MBOAT7):c.854+1G>C http://identifiers.org/clinvar/268182 ^@ NM_002024.5(FMR1):c.420-8A>G http://identifiers.org/clinvar/279594 ^@ NM_001267550.2(TTN):c.18001C>T (p.Gln6001Ter) http://identifiers.org/clinvar/291659 ^@ NM_015074.3(KIF1B):c.*4267A>G http://identifiers.org/clinvar/292498 ^@ NM_004698.2(PRPF3):c.780G>A (p.Glu260=) http://identifiers.org/clinvar/292948 ^@ NM_003126.2(SPTA1):c.6789-10_6789-8dupTTT http://identifiers.org/clinvar/293148 ^@ NM_000702.3(ATP1A2):c.*621A>G http://identifiers.org/clinvar/293398 ^@ NM_004431.4(EPHA2):c.*360G>A http://identifiers.org/clinvar/293048 ^@ NM_003126.2(SPTA1):c.793A>G (p.Asn265Asp) http://identifiers.org/clinvar/293498 ^@ NM_005149.2(TBX19):c.*1109dupC http://identifiers.org/clinvar/293548 ^@ NM_000130.4(F5):c.*1436T>A http://identifiers.org/clinvar/293898 ^@ NM_002065.6(GLUL):c.*1958G>A http://identifiers.org/clinvar/293798 ^@ NM_022089.3(ATP13A2):c.1163G>A (p.Gly388Glu) http://identifiers.org/clinvar/293648 ^@ NM_152281.2(GORAB):c.99C>G (p.Phe33Leu) http://identifiers.org/clinvar/292998 ^@ NM_003126.2(SPTA1):c.3171G>A (p.Gln1057=) http://identifiers.org/clinvar/293098 ^@ NM_002241.4(KCNJ10):c.*1855T>C http://identifiers.org/clinvar/294098 ^@ NM_031935.2(HMCN1):c.710G>T (p.Arg237Ile) http://identifiers.org/clinvar/293248 ^@ NM_000309.3(PPOX):c.87+13C>T http://identifiers.org/clinvar/293198 ^@ NM_002857.3(PEX19):c.*2068T>C http://identifiers.org/clinvar/294248 ^@ NM_031935.2(HMCN1):c.12355A>G (p.Ile4119Val) http://identifiers.org/clinvar/293298 ^@ NM_000530.7(MPZ):c.*1074A>C http://identifiers.org/clinvar/294298 ^@ NM_031935.2(HMCN1):c.15732C>G (p.His5244Gln) http://identifiers.org/clinvar/293348 ^@ NM_003001.3(SDHC):c.*1378T>C http://identifiers.org/clinvar/294348 ^@ NM_003748.3(ALDH4A1):c.*690G>A http://identifiers.org/clinvar/293448 ^@ NM_004431.4(EPHA2):c.154-5C>T http://identifiers.org/clinvar/293598 ^@ NM_000130.4(F5):c.4309A>T (p.Thr1437Ser) http://identifiers.org/clinvar/293698 ^@ NM_006894.5(FMO3):c.1539T>C (p.His513=) http://identifiers.org/clinvar/293748 ^@ NM_000639.2(FASLG):c.*629_*632dupGTGT http://identifiers.org/clinvar/293848 ^@ NM_014625.3(NPHS2):c.652G>A (p.Val218Met) http://identifiers.org/clinvar/295087 ^@ NM_000228.2(LAMB3):c.2542C>T (p.Arg848Trp) http://identifiers.org/clinvar/344279 ^@ NM_181426.1(CCDC39):c.396G>A (p.Leu132=) http://identifiers.org/clinvar/343779 ^@ NM_000096.3(CP):c.938C>T (p.Thr313Ile) http://identifiers.org/clinvar/344729 ^@ NM_015141.3(GPD1L):c.876G>A (p.Glu292=) http://identifiers.org/clinvar/344779 ^@ NM_000404.3(GLB1):c.*319G>A http://identifiers.org/clinvar/344829 ^@ NM_006371.4(CRTAP):c.*991C>T http://identifiers.org/clinvar/344929 ^@ NM_001106.3(ACVR2B):c.*394G>A http://identifiers.org/clinvar/344179 ^@ NM_198407.2(GHSR):c.*1345G>T http://identifiers.org/clinvar/344229 ^@ NM_031955.5(SPATA16):c.25T>C (p.Leu9=) http://identifiers.org/clinvar/345229 ^@ NM_016006.4(ABHD5):c.*281C>A http://identifiers.org/clinvar/345379 ^@ NM_020208.3(SLC6A20):c.*1169T>C http://identifiers.org/clinvar/344479 ^@ NM_015560.2(OPA1):c.253C>T (p.Arg85Cys) http://identifiers.org/clinvar/345429 ^@ NM_020208.3(SLC6A20):c.-45G>C http://identifiers.org/clinvar/345479 ^@ NM_024513.3(FYCO1):c.*709C>T http://identifiers.org/clinvar/336910 ^@ NM_001004311.3(FIGLA):c.384+11A>G http://identifiers.org/clinvar/345529 ^@ NM_024513.3(FYCO1):c.1121T>C (p.Met374Thr) http://identifiers.org/clinvar/345579 ^@ NM_000316.2(PTH1R):c.216G>A (p.Ala72=) http://identifiers.org/clinvar/337210 ^@ NM_000821.6(GGCX):c.*2949C>T http://identifiers.org/clinvar/337110 ^@ NM_006302.2(MOGS):c.1509A>C (p.Leu503=) http://identifiers.org/clinvar/344979 ^@ NM_001106.3(ACVR2B):c.*3345A>C http://identifiers.org/clinvar/337160 ^@ NM_003849.3(SUCLG1):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/345029 ^@ NM_001106.3(ACVR2B):c.*8187G>A http://identifiers.org/clinvar/345079 ^@ NM_198056.2(SCN5A):c.*1390A>G http://identifiers.org/clinvar/337510 ^@ NM_017849.3(TMEM127):c.-87C>T http://identifiers.org/clinvar/337360 ^@ NM_022912.2(REEP1):c.*2110dupT http://identifiers.org/clinvar/337410 ^@ NM_004836.6(EIF2AK3):c.2014G>A (p.Glu672Lys) http://identifiers.org/clinvar/337610 ^@ NM_020184.3(CNNM4):c.*1516C>T http://identifiers.org/clinvar/346268 ^@ NM_003392.4(WNT5A):c.685A>G (p.Thr229Ala) http://identifiers.org/clinvar/337660 ^@ NM_001298.2(CNGA3):c.777C>A (p.Thr259=) http://identifiers.org/clinvar/346518 ^@ NM_000248.3(MITF):c.*662T>C http://identifiers.org/clinvar/342390 ^@ NM_033084.4(FANCD2):c.*427C>A http://identifiers.org/clinvar/342340 ^@ NM_016247.3(IMPG2):c.2847A>G (p.Leu949=) http://identifiers.org/clinvar/342490 ^@ NM_000551.3(VHL):c.*2960C>A http://identifiers.org/clinvar/342740 ^@ NM_000187.3(HGD):c.923C>G (p.Pro308Arg) http://identifiers.org/clinvar/342690 ^@ NM_020754.3(ARHGAP31):c.*1126A>T http://identifiers.org/clinvar/347318 ^@ NM_001148.4(ANK2):c.3379+12T>G http://identifiers.org/clinvar/346668 ^@ NM_002942.4(ROBO2):c.-482C>T http://identifiers.org/clinvar/343679 ^@ NM_031850.3(AGTR1):c.*251G>A http://identifiers.org/clinvar/346718 ^@ NM_002942.4(ROBO2):c.*166T>C http://identifiers.org/clinvar/362233 ^@ NM_130849.3(SLC39A4):c.1426G>C (p.Glu476Gln) http://identifiers.org/clinvar/362383 ^@ NM_177924.4(ASAH1):c.262G>A (p.Val88Met) http://identifiers.org/clinvar/362483 ^@ NM_005144.4(HR):c.3098-13C>G http://identifiers.org/clinvar/354445 ^@ NM_004385.4(VCAN):c.7581C>T (p.Phe2527=) http://identifiers.org/clinvar/354545 ^@ NM_002890.2(RASA1):c.*1005_*1009delGTTAA http://identifiers.org/clinvar/354595 ^@ NM_002397.4(MEF2C):c.-393A>T http://identifiers.org/clinvar/362933 ^@ NM_003816.2(ADAM9):c.1501A>G (p.Asn501Asp) http://identifiers.org/clinvar/354695 ^@ NM_001491.2(GCNT2):c.-513C>T http://identifiers.org/clinvar/363133 ^@ NM_018105.2(THAP1):c.-236A>T http://identifiers.org/clinvar/363233 ^@ NM_005914.3(MCM4):c.1569G>A (p.Val523=) http://identifiers.org/clinvar/354795 ^@ NM_001242957.2(MAK):c.1184G>T (p.Arg395Leu) http://identifiers.org/clinvar/363483 ^@ NM_017780.3(CHD7):c.8488G>A (p.Ala2830Thr) http://identifiers.org/clinvar/355246 ^@ NM_000426.3(LAMA2):c.1085G>T (p.Arg362Ile) http://identifiers.org/clinvar/363683 ^@ NM_000503.5(EYA1):c.-589C>A http://identifiers.org/clinvar/355546 ^@ NM_000416.2(IFNGR1):c.*466A>G http://identifiers.org/clinvar/355496 ^@ NM_017651.4(AHI1):c.3486-4A>G http://identifiers.org/clinvar/355596 ^@ NM_003764.3(STX11):c.-71C>T http://identifiers.org/clinvar/355696 ^@ NM_203395.2(IYD):c.*563G>A http://identifiers.org/clinvar/365122 ^@ NM_003863.3(DPM2):c.-429G>T http://identifiers.org/clinvar/365172 ^@ NM_001130438.2(SPTAN1):c.5044-4C>T http://identifiers.org/clinvar/365222 ^@ NM_000113.2(TOR1A):c.*415_*416insG http://identifiers.org/clinvar/365322 ^@ NM_015046.5(SETX):c.*988G>A http://identifiers.org/clinvar/356435 ^@ NM_021922.2(FANCE):c.-182G>A http://identifiers.org/clinvar/356485 ^@ NM_182548.3(LHFPL5):c.-93C>T http://identifiers.org/clinvar/365672 ^@ NM_000787.3(DBH):c.1722+4C>T http://identifiers.org/clinvar/356885 ^@ NM_006502.2(POLH):c.-282A>G http://identifiers.org/clinvar/356735 ^@ NM_002098.5(GUCA1B):c.387G>A (p.Arg129=) http://identifiers.org/clinvar/361594 ^@ NM_014112.4(TRPS1):c.*566G>A http://identifiers.org/clinvar/357085 ^@ NM_001024630.3(RUNX2):c.-120T>C http://identifiers.org/clinvar/366023 ^@ NM_024757.4(EHMT1):c.3035+3G>A http://identifiers.org/clinvar/356985 ^@ NM_006502.2(POLH):c.*3753C>T http://identifiers.org/clinvar/366173 ^@ NM_144966.5(FREM1):c.324T>A (p.Leu108=) http://identifiers.org/clinvar/367262 ^@ NM_138691.2(TMC1):c.*28A>C http://identifiers.org/clinvar/303814 ^@ NM_005709.3(USH1C):c.464G>C (p.Arg155Pro) http://identifiers.org/clinvar/364083 ^@ NM_000380.3(XPA):c.*256G>C http://identifiers.org/clinvar/303914 ^@ NM_005566.3(LDHA):c.483C>T (p.Ser161=) http://identifiers.org/clinvar/303964 ^@ NM_006757.3(TNNT3):c.-177dupC http://identifiers.org/clinvar/304014 ^@ NM_004211.4(SLC6A5):c.802G>A (p.Ala268Thr) http://identifiers.org/clinvar/304264 ^@ NM_000218.2(KCNQ1):c.*887_*889delTCA http://identifiers.org/clinvar/304364 ^@ NM_000280.4(PAX6):c.-180A>G http://identifiers.org/clinvar/364183 ^@ NM_004612.3(TGFBR1):c.*4356A>G http://identifiers.org/clinvar/304514 ^@ NM_000448.2(RAG1):c.*398G>A http://identifiers.org/clinvar/304614 ^@ NM_021926.3(ALX4):c.*3596C>G http://identifiers.org/clinvar/313262 ^@ NM_002408.3(MGAT2):c.*579C>T http://identifiers.org/clinvar/304814 ^@ NM_000506.4(F2):c.978G>A (p.Pro326=) http://identifiers.org/clinvar/313462 ^@ NM_005982.3(SIX1):c.*265delA http://identifiers.org/clinvar/313512 ^@ NM_182914.2(SYNE2):c.5156T>C (p.Met1719Thr) http://identifiers.org/clinvar/314062 ^@ NM_031427.3(DNAL1):c.*2555A>G http://identifiers.org/clinvar/314112 ^@ NM_031427.3(DNAL1):c.*6015_*6016delAA http://identifiers.org/clinvar/314951 ^@ NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) http://identifiers.org/clinvar/315001 ^@ NM_000295.4(SERPINA1):c.*1292C>T http://identifiers.org/clinvar/305905 ^@ NM_012309.4(SHANK2):c.912+269C>T http://identifiers.org/clinvar/315101 ^@ NM_177438.2(DICER1):c.5010A>G (p.Glu1670=) http://identifiers.org/clinvar/315451 ^@ NM_022807.4(SNRPN):c.3+10A>G http://identifiers.org/clinvar/315651 ^@ NM_005159.4(ACTC1):c.*1781C>T http://identifiers.org/clinvar/306419 ^@ NM_001814.5(CTSC):c.1146C>T (p.His382=) http://identifiers.org/clinvar/300825 ^@ NM_014000.2(VCL):c.*1860_*1862dupAAA http://identifiers.org/clinvar/317691 ^@ NM_000246.3(CIITA):c.1296A>T (p.Ala432=) http://identifiers.org/clinvar/317741 ^@ NM_000246.3(CIITA):c.*570G>A http://identifiers.org/clinvar/317791 ^@ NM_004862.3(LITAF):c.-89C>A http://identifiers.org/clinvar/309858 ^@ NM_001029.3(RPS26):c.-3A>G http://identifiers.org/clinvar/317891 ^@ NM_032520.4(GNPTG):c.741+6G>A http://identifiers.org/clinvar/309908 ^@ NM_005379.3(MYO1A):c.2055T>C (p.Thr685=) http://identifiers.org/clinvar/309958 ^@ NM_004984.2(KIF5A):c.*326G>T http://identifiers.org/clinvar/310058 ^@ NM_000552.4(VWF):c.5620+10A>G http://identifiers.org/clinvar/318343 ^@ NM_001039.3(SCNN1G):c.-44-4C>G http://identifiers.org/clinvar/310208 ^@ NM_002076.3(GNS):c.624+10A>G http://identifiers.org/clinvar/330113 ^@ NM_015629.3(PRPF31):c.*46G>A http://identifiers.org/clinvar/310308 ^@ NM_021150.3(GRIP1):c.1288G>A (p.Gly430Arg) http://identifiers.org/clinvar/310408 ^@ NM_000319.4(PEX5):c.-606_-588del19insCC http://identifiers.org/clinvar/318643 ^@ NM_020705.2(TBC1D24):c.*1401T>C http://identifiers.org/clinvar/318693 ^@ NM_020705.2(TBC1D24):c.*3715C>T http://identifiers.org/clinvar/330513 ^@ NM_006702.4(PNPLA6):c.198+13C>T http://identifiers.org/clinvar/318893 ^@ NM_006662.2(SRCAP):c.7121C>A (p.Thr2374Asn) http://identifiers.org/clinvar/338110 ^@ NM_015338.5(ASXL1):c.3513G>A (p.Arg1171=) http://identifiers.org/clinvar/319633 ^@ NM_015272.4(RPGRIP1L):c.*875A>G http://identifiers.org/clinvar/319683 ^@ NM_001080432.2(FTO):c.751+3A>G http://identifiers.org/clinvar/320083 ^@ NM_001297.4(CNGB1):c.1958-8C>T http://identifiers.org/clinvar/320433 ^@ NM_001361.4(DHODH):c.820T>C (p.Leu274=) http://identifiers.org/clinvar/339050 ^@ NM_001001433.2(STX16):c.540G>A (p.Gln180=) http://identifiers.org/clinvar/339150 ^@ NM_207034.2(EDN3):c.*831G>A http://identifiers.org/clinvar/320683 ^@ NM_022041.3(GAN):c.*967G>A http://identifiers.org/clinvar/313612 ^@ NM_182914.2(SYNE2):c.15822A>T (p.Ser5274=) http://identifiers.org/clinvar/339500 ^@ NM_015192.3(PLCB1):c.724G>A (p.Val242Ile) http://identifiers.org/clinvar/320883 ^@ NM_001127464.2(ZNF469):c.2132C>G (p.Pro711Arg) http://identifiers.org/clinvar/339550 ^@ NM_015192.3(PLCB1):c.*2847T>A http://identifiers.org/clinvar/339600 ^@ NM_000933.3(PLCB4):c.*271A>G http://identifiers.org/clinvar/313762 ^@ NM_000347.5(SPTB):c.1577C>T (p.Thr526Ile) http://identifiers.org/clinvar/313812 ^@ NM_002382.4(MAX):c.*248A>T http://identifiers.org/clinvar/339800 ^@ NM_001754.4(RUNX1):c.*3944G>A http://identifiers.org/clinvar/313912 ^@ NM_015346.3(ZFYVE26):c.2420T>C (p.Met807Thr) http://identifiers.org/clinvar/313962 ^@ NM_000021.3(PSEN1):c.*1147C>T http://identifiers.org/clinvar/340000 ^@ NM_020639.2(RIPK4):c.*281G>A http://identifiers.org/clinvar/340150 ^@ NM_000211.4(ITGB2):c.1642G>T (p.Val548Phe) http://identifiers.org/clinvar/314162 ^@ NM_005589.3(ALDH6A1):c.*377C>A http://identifiers.org/clinvar/342190 ^@ NM_000487.5(ARSA):c.*1987G>A http://identifiers.org/clinvar/328324 ^@ NM_006563.4(KLF1):c.255G>A (p.Pro85=) http://identifiers.org/clinvar/326685 ^@ NM_032978.6(DTNA):c.*898G>T http://identifiers.org/clinvar/326735 ^@ NM_015559.2(SETBP1):c.1137G>A (p.Glu379=) http://identifiers.org/clinvar/326785 ^@ NM_015559.2(SETBP1):c.*2414C>G http://identifiers.org/clinvar/367791 ^@ NM_002294.2(LAMP2):c.-168dupC http://identifiers.org/clinvar/326985 ^@ NM_001080467.2(MYO5B):c.*464G>A http://identifiers.org/clinvar/328724 ^@ NM_001031726.3(C19orf12):c.*308C>T http://identifiers.org/clinvar/329074 ^@ NM_000540.2(RYR1):c.7927-7C>T http://identifiers.org/clinvar/368341 ^@ NM_003334.3(UBA1):c.2004-13C>T http://identifiers.org/clinvar/368441 ^@ NM_007137.3(ZNF81):c.*4304A>G http://identifiers.org/clinvar/368641 ^@ NM_002637.3(PHKA1):c.*231A>T http://identifiers.org/clinvar/368741 ^@ NM_021998.4(ZNF711):c.-190A>G http://identifiers.org/clinvar/328074 ^@ NM_000527.4(LDLR):c.*804G>A http://identifiers.org/clinvar/328124 ^@ NM_000527.4(LDLR):c.*2216_*2217dupCA http://identifiers.org/clinvar/330163 ^@ NM_206828.3(NLRP7):c.2129+6T>C http://identifiers.org/clinvar/328274 ^@ NM_000528.3(MAN2B1):c.1068C>G (p.Pro356=) http://identifiers.org/clinvar/328474 ^@ NM_000215.3(JAK3):c.*1197G>A http://identifiers.org/clinvar/330463 ^@ NM_000208.3(INSR):c.2280A>G (p.Lys760=) http://identifiers.org/clinvar/337810 ^@ NM_024411.4(PDYN):c.*1274T>G http://identifiers.org/clinvar/328924 ^@ NM_001083961.1(WDR62):c.3356C>T (p.Pro1119Leu) http://identifiers.org/clinvar/337910 ^@ NM_198994.2(TGM6):c.787A>G (p.Lys263Glu) http://identifiers.org/clinvar/338800 ^@ NM_000782.4(CYP24A1):c.*518A>G http://identifiers.org/clinvar/338900 ^@ NM_002591.3(PCK1):c.*249G>T http://identifiers.org/clinvar/339200 ^@ NM_017671.4(FERMT1):c.*207C>G http://identifiers.org/clinvar/339250 ^@ NM_017671.4(FERMT1):c.-456C>A http://identifiers.org/clinvar/339400 ^@ NM_025219.2(DNAJC5):c.*1820C>A http://identifiers.org/clinvar/330563 ^@ NM_006949.3(STXBP2):c.1672G>A (p.Glu558Lys) http://identifiers.org/clinvar/337710 ^@ NM_018848.3(MKKS):c.-707C>T http://identifiers.org/clinvar/339950 ^@ NM_000411.6(HLCS):c.*590A>G http://identifiers.org/clinvar/337760 ^@ NM_000214.2(JAG1):c.282C>T (p.Phe94=) http://identifiers.org/clinvar/337860 ^@ NM_000361.2(THBD):c.*1171C>G http://identifiers.org/clinvar/340100 ^@ NM_000394.3(CRYAA):c.369C>T (p.Asn123=) http://identifiers.org/clinvar/337960 ^@ NM_014588.5(VSX1):c.528G>A (p.Leu176=) http://identifiers.org/clinvar/338010 ^@ NM_006899.4(IDH3B):c.*203T>C http://identifiers.org/clinvar/338060 ^@ NM_033118.3(MYLK2):c.*773G>A http://identifiers.org/clinvar/340200 ^@ NM_130445.3(COL18A1):c.691G>A (p.Val231Met) http://identifiers.org/clinvar/338260 ^@ NM_032034.3(SLC4A11):c.168C>T (p.Phe56=) http://identifiers.org/clinvar/340250 ^@ NM_130445.3(COL18A1):c.2578G>T (p.Val860Leu) http://identifiers.org/clinvar/340300 ^@ NM_130445.3(COL18A1):c.*1129A>C http://identifiers.org/clinvar/338160 ^@ NM_006892.3(DNMT3B):c.960C>A (p.Ser320Arg) http://identifiers.org/clinvar/338210 ^@ NM_003098.2(SNTA1):c.*6G>A http://identifiers.org/clinvar/340601 ^@ NM_014339.6(IL17RA):c.1632G>C (p.Pro544=) http://identifiers.org/clinvar/340651 ^@ NM_014339.6(IL17RA):c.*2163G>C http://identifiers.org/clinvar/338950 ^@ NM_004738.4(VAPB):c.*1431G>T http://identifiers.org/clinvar/339000 ^@ NM_004738.4(VAPB):c.*4952C>T http://identifiers.org/clinvar/339300 ^@ NM_001853.3(COL9A3):c.1664G>A (p.Arg555Gln) http://identifiers.org/clinvar/339450 ^@ NM_012469.3(PRPF6):c.-147A>C http://identifiers.org/clinvar/339650 ^@ NM_000484.3(APP):c.126C>T (p.Asn42=) http://identifiers.org/clinvar/339700 ^@ NM_000628.4(IL10RB):c.*314G>A http://identifiers.org/clinvar/341690 ^@ NM_022098.3(XPNPEP3):c.*1161C>G http://identifiers.org/clinvar/339750 ^@ NM_000219.5(KCNE1):c.*1226_*1229delGCCG http://identifiers.org/clinvar/339900 ^@ NM_144492.2(CLDN14):c.-432C>T http://identifiers.org/clinvar/341890 ^@ NM_000262.2(NAGA):c.*1501C>G http://identifiers.org/clinvar/380255 ^@ NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) http://identifiers.org/clinvar/391730 ^@ NM_017617.4(NOTCH1):c.2969+14G>A http://identifiers.org/clinvar/382700 ^@ NM_000077.4(CDKN2A):c.457+11A>G http://identifiers.org/clinvar/383601 ^@ NM_020822.2(KCNT1):c.1337+17G>A http://identifiers.org/clinvar/383000 ^@ NM_004376.6(COX15):c.1102-1219G>A http://identifiers.org/clinvar/392080 ^@ NM_001134363.2(RBM20):c.555C>T (p.Asn185=) http://identifiers.org/clinvar/387631 ^@ NM_001101.3(ACTB):c.-50G>C http://identifiers.org/clinvar/379654 ^@ NM_033056.3(PCDH15):c.4035T>A (p.Tyr1345Ter) http://identifiers.org/clinvar/381447 ^@ NM_033087.3(ALG2):c.349-17A>G http://identifiers.org/clinvar/382449 ^@ NM_000051.3(ATM):c.2377-19T>G http://identifiers.org/clinvar/385642 ^@ NM_000314.6(PTEN):c.802-6T>G http://identifiers.org/clinvar/382650 ^@ NM_014391.2(ANKRD1):c.92G>A (p.Gly31Glu) http://identifiers.org/clinvar/382249 ^@ NM_000051.3(ATM):c.7927+7T>G http://identifiers.org/clinvar/382148 ^@ NM_004572.3(PKP2):c.975C>T (p.Ala325=) http://identifiers.org/clinvar/377755 ^@ NM_001876.3(CPT1A):c.2142G>A (p.Pro714=) http://identifiers.org/clinvar/383802 ^@ NM_006231.3(POLE):c.4708C>A (p.Arg1570=) http://identifiers.org/clinvar/381647 ^@ NM_006231.3(POLE):c.1993C>A (p.Arg665=) http://identifiers.org/clinvar/392380 ^@ NM_021625.4(TRPV4):c.2458+15G>T http://identifiers.org/clinvar/383852 ^@ NM_000257.3(MYH7):c.4800C>T (p.Ser1600=) http://identifiers.org/clinvar/379905 ^@ NG_017041.1:g.4978C>G http://identifiers.org/clinvar/379554 ^@ NM_004612.3(TGFBR1):c.-4G>A http://identifiers.org/clinvar/381597 ^@ NM_000814.5(GABRB3):c.-673G>A http://identifiers.org/clinvar/385742 ^@ NM_152594.2(SPRED1):c.207+15A>G http://identifiers.org/clinvar/382750 ^@ NM_004984.2(KIF5A):c.820-19G>T http://identifiers.org/clinvar/387781 ^@ NM_000138.4(FBN1):c.2349T>C (p.Asn783=) http://identifiers.org/clinvar/382098 ^@ NM_000053.3(ATP7B):c.3623C>T (p.Thr1208Met) http://identifiers.org/clinvar/386392 ^@ NM_014844.4(TECPR2):c.1458G>A (p.Ser486=) http://identifiers.org/clinvar/377505 ^@ NM_000051.3(ATM):c.2124+13A>T http://identifiers.org/clinvar/387681 ^@ NM_000059.3(BRCA2):c.7503A>G (p.Gln2501=) http://identifiers.org/clinvar/379704 ^@ NM_000051.3(ATM):c.4611+19T>C http://identifiers.org/clinvar/383551 ^@ NM_000051.3(ATM):c.6348-12C>T http://identifiers.org/clinvar/380506 ^@ NM_005050.3(ABCD4):c.1636+10C>T http://identifiers.org/clinvar/381347 ^@ NM_002474.2(MYH11):c.503-9T>C http://identifiers.org/clinvar/379504 ^@ NM_000218.2(KCNQ1):c.843C>A (p.Tyr281Ter) http://identifiers.org/clinvar/382550 ^@ NM_002335.3(LRP5):c.2139G>A (p.Val713=) http://identifiers.org/clinvar/379354 ^@ NM_000781.2(CYP11A1):c.358C>T (p.Arg120Ter) http://identifiers.org/clinvar/381848 ^@ NM_000137.2(FAH):c.483C>T (p.Gly161=) http://identifiers.org/clinvar/383501 ^@ NM_012213.2(MLYCD):c.799-19C>T http://identifiers.org/clinvar/392580 ^@ NM_006231.3(POLE):c.6408C>T (p.Gly2136=) http://identifiers.org/clinvar/381898 ^@ NM_002474.2(MYH11):c.1749+17C>T http://identifiers.org/clinvar/385792 ^@ NM_005477.2(HCN4):c.2946G>A (p.Leu982=) http://identifiers.org/clinvar/384002 ^@ NM_000548.4(TSC2):c.3554C>T (p.Ala1185Val) http://identifiers.org/clinvar/391230 ^@ NM_002693.2(POLG):c.2157+12G>A http://identifiers.org/clinvar/47457 ^@ NM_133378.4(TTN):c.79107A>G (p.Val26369=) http://identifiers.org/clinvar/47507 ^@ NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) http://identifiers.org/clinvar/47557 ^@ NM_133378.4(TTN):c.87659A>G (p.Tyr29220Cys) http://identifiers.org/clinvar/47607 ^@ NM_133379.4(TTN):c.*265+206106C>A http://identifiers.org/clinvar/47657 ^@ NM_133378.4(TTN):c.95245C>T (p.Gln31749Ter) http://identifiers.org/clinvar/47707 ^@ NM_133378.4(TTN):c.9879A>G (p.Glu3293=) http://identifiers.org/clinvar/47757 ^@ NM_133379.4(TTN):c.13478A>C (p.Lys4493Thr) http://identifiers.org/clinvar/47807 ^@ NM_133379.4(TTN):c.*265+3509C>T http://identifiers.org/clinvar/47857 ^@ NM_138691.2(TMC1):c.1224+5G>A http://identifiers.org/clinvar/47907 ^@ NM_144573.3(NEXN):c.392A>G (p.Gln131Arg) http://identifiers.org/clinvar/47957 ^@ NM_147196.2(TMIE):c.211+3G>C http://identifiers.org/clinvar/27 ^@ NM_015600.4(ABHD12):c.1054C>T (p.Arg352Ter) http://identifiers.org/clinvar/610 ^@ NM_000277.1(PAH):c.781C>T (p.Arg261Ter) http://identifiers.org/clinvar/682 ^@ FUCA1, 2-EX DEL http://identifiers.org/clinvar/823 ^@ NM_000038.5(APC):c.4611_4612delAG (p.Glu1538Ilefs) http://identifiers.org/clinvar/1060 ^@ NM_018122.4(DARS2):c.788G>A (p.Arg263Gln) http://identifiers.org/clinvar/1552 ^@ NM_000237.2(LPL):c.106G>A (p.Asp36Asn) http://identifiers.org/clinvar/1598 ^@ NM_020937.3(FANCM):c.2171C>A (p.Ser724Ter) http://identifiers.org/clinvar/1647 ^@ THAP1, 1-BP DEL, 460C http://identifiers.org/clinvar/1692 ^@ NM_002108.3(HAL):c.965G>C (p.Arg322Pro) http://identifiers.org/clinvar/1738 ^@ NM_001017420.2(ESCO2):c.760dupA (p.Thr254Asnfs) http://identifiers.org/clinvar/1969 ^@ NM_000022.3(ADA):c.219-2A>G http://identifiers.org/clinvar/2012 ^@ NM_001134832.1(AHI1):c.1328T>A (p.Val443Asp) http://identifiers.org/clinvar/2058 ^@ NM_152443.2(RDH12):c.658+1G>A http://identifiers.org/clinvar/2103 ^@ NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter) http://identifiers.org/clinvar/2149 ^@ NIPBL, IVS44DS, A-G, +4 http://identifiers.org/clinvar/2196 ^@ NM_001145809.1(MYH14):c.20C>A (p.Ser7Ter) http://identifiers.org/clinvar/2286 ^@ NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu) http://identifiers.org/clinvar/2331 ^@ NM_033071.3(SYNE1):c.11696_11697delTG (p.Met3899Argfs) http://identifiers.org/clinvar/2378 ^@ NM_000709.3(BCKDHA):c.1226T>G (p.Phe409Cys) http://identifiers.org/clinvar/2422 ^@ CPS1, 4.2-KB DEL http://identifiers.org/clinvar/2468 ^@ NM_000026.3(ADSL):c.674T>C (p.Met225Thr) http://identifiers.org/clinvar/2513 ^@ NM_000346.3(SOX9):c.493C>T (p.His165Tyr) http://identifiers.org/clinvar/2561 ^@ NM_024079.4(ALG8):c.139A>C (p.Thr47Pro) http://identifiers.org/clinvar/2607 ^@ NM_001128085.1(ASPA):c.914C>A (p.Ala305Glu) http://identifiers.org/clinvar/2653 ^@ GORAB, IVS4, G-C, +5 http://identifiers.org/clinvar/2745 ^@ NM_004183.3(BEST1):c.715G>A (p.Val239Met) http://identifiers.org/clinvar/2790 ^@ NM_000158.3(GBE1):c.708G>C (p.Gln236His) http://identifiers.org/clinvar/2835 ^@ ACAT1, IVS10, A-C, -2 http://identifiers.org/clinvar/2881 ^@ NM_025193.3(HSD3B7):c.1039_1040delCT (p.Leu347Valfs) http://identifiers.org/clinvar/2926 ^@ SAR1B, 4-BP DUP, 555TTAC http://identifiers.org/clinvar/2971 ^@ NM_000271.4(NPC1):c.2848G>A (p.Val950Met) http://identifiers.org/clinvar/3016 ^@ NM_176824.2(BBS7):c.632C>T (p.Thr211Ile) http://identifiers.org/clinvar/3066 ^@ NM_000487.5(ARSA):c.467G>A (p.Gly156Asp) http://identifiers.org/clinvar/10139 ^@ NM_000132.3(F8):c.1063C>T (p.Arg355Ter) http://identifiers.org/clinvar/10184 ^@ F8, IVS6AS, G-C, -1 http://identifiers.org/clinvar/10229 ^@ NM_000132.3(F8):c.1730C>T (p.Ser577Phe) http://identifiers.org/clinvar/10274 ^@ NM_000132.3(F8):c.5399G>A (p.Arg1800His) http://identifiers.org/clinvar/10319 ^@ NM_000132.3(F8):c.6533G>A (p.Arg2178His) http://identifiers.org/clinvar/10365 ^@ NM_000402.4(G6PD):c.1206G>A (p.Gln402=) http://identifiers.org/clinvar/10415 ^@ NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) http://identifiers.org/clinvar/10509 ^@ NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln) http://identifiers.org/clinvar/10555 ^@ NM_000351.5(STS):c.1115G>C (p.Trp372Ser) http://identifiers.org/clinvar/10645 ^@ F9, -5A-T http://identifiers.org/clinvar/10691 ^@ NM_000266.3(NDP):c.125A>G (p.His42Arg) http://identifiers.org/clinvar/10736 ^@ NM_000169.2(GLA):c.861G>A (p.Trp287Ter) http://identifiers.org/clinvar/10781 ^@ NM_003916.4(AP1S2):c.226G>T (p.Glu76Ter) http://identifiers.org/clinvar/10826 ^@ NM_004463.2(FGD1):c.1565G>A (p.Arg522His) http://identifiers.org/clinvar/10871 ^@ NM_000284.3(PDHA1):c.1167_1170delCAGT (p.Ser390Lysfs) http://identifiers.org/clinvar/10917 ^@ BCOR, 1-BP DEL, 3286G http://identifiers.org/clinvar/10962 ^@ NR0B1, DUP http://identifiers.org/clinvar/11007 ^@ NM_000531.5(OTC):c.281G>C (p.Arg94Thr) http://identifiers.org/clinvar/11052 ^@ nsv513783 http://identifiers.org/clinvar/11427 ^@ NM_001129765.1(NSDHL):c.613G>A (p.Gly205Ser) http://identifiers.org/clinvar/11478 ^@ NM_001042537.1(SLC9A6):c.603+3_603+4delAAinsCC http://identifiers.org/clinvar/11529 ^@ NM_000047.2(ARSE):c.1743G>A (p.Trp581Ter) http://identifiers.org/clinvar/11579 ^@ NM_002547.2(OPHN1):c.184C>T (p.Gln62Ter) http://identifiers.org/clinvar/11629 ^@ NM_004615.3(TSPAN7):c.652G>T (p.Gly218Ter) http://identifiers.org/clinvar/11680 ^@ NM_000307.4(POU3F4):c.1000A>G (p.Lys334Glu) http://identifiers.org/clinvar/11730 ^@ ATRX, IVSAS, T-A, -10 http://identifiers.org/clinvar/11782 ^@ NM_000052.6(ATP7A):c.1910C>T (p.Ser637Leu) http://identifiers.org/clinvar/11832 ^@ MECP2, 52-BP DEL http://identifiers.org/clinvar/11882 ^@ NM_002769.4(PRSS1):c.365_366delGCinsAT (p.Arg122His) http://identifiers.org/clinvar/11932 ^@ NM_000431.3(MVK):c.803T>C (p.Ile268Thr) http://identifiers.org/clinvar/11982 ^@ NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) http://identifiers.org/clinvar/12034 ^@ NM_000892.4(KLKB1):c.1205G>A (p.Trp402Ter) http://identifiers.org/clinvar/12084 ^@ F7, CYS61TER http://identifiers.org/clinvar/12134 ^@ SLC25A20, 110-BP DEL http://identifiers.org/clinvar/12188 ^@ NM_001166120.1(HSD3B2):c.29C>A (p.Ala10Glu) http://identifiers.org/clinvar/12240 ^@ NM_004360.4(CDH1):c.70G>T (p.Glu24Ter) http://identifiers.org/clinvar/12290 ^@ UNG, 1-BP DEL, 462C http://identifiers.org/clinvar/12342 ^@ NM_001065.3(TNFRSF1A):c.176G>C (p.Cys59Ser) http://identifiers.org/clinvar/12393 ^@ NM_000548.4(TSC2):c.5024C>T (p.Pro1675Leu) http://identifiers.org/clinvar/12938 ^@ HTR2A, IVS2, A-G http://identifiers.org/clinvar/12989 ^@ NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys) http://identifiers.org/clinvar/13039 ^@ RHO, IVS4, G-T, +1 http://identifiers.org/clinvar/13091 ^@ NM_000321.2(RB1):c.1439_1441delACA (p.Asn480del) http://identifiers.org/clinvar/13141 ^@ NM_000448.2(RAG1):c.2814T>G (p.Tyr938Ter) http://identifiers.org/clinvar/13192 ^@ PYCR1, 22-BP DEL, NT617 http://identifiers.org/clinvar/13243 ^@ PRKCSH, 1-BP INS, 216A http://identifiers.org/clinvar/13294 ^@ NM_000141.4(FGFR2):c.1694A>C (p.Glu565Ala) http://identifiers.org/clinvar/13345 ^@ NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) http://identifiers.org/clinvar/13398 ^@ NM_000311.4(PRNP):c.598G>A (p.Glu200Lys) http://identifiers.org/clinvar/13450 ^@ NM_000371.3(TTR):c.379A>G (p.Ile127Val) http://identifiers.org/clinvar/13501 ^@ NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) http://identifiers.org/clinvar/13551 ^@ NM_006206.4(PDGFRA):c.2536G>T (p.Asp846Tyr) http://identifiers.org/clinvar/36880 ^@ NM_012452.2(TNFRSF13B):c.*86_*88delTGA http://identifiers.org/clinvar/36948 ^@ NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) http://identifiers.org/clinvar/37043 ^@ FANCB, LEU717TER http://identifiers.org/clinvar/37111 ^@ NM_005585.4(SMAD6):c.1451G>T (p.Cys484Phe) http://identifiers.org/clinvar/37246 ^@ ALMS1, 333-BP ALU INS, EX16 http://identifiers.org/clinvar/37321 ^@ ABCD4, IVS5DS, G-T, +1 http://identifiers.org/clinvar/37405 ^@ NM_007294.3(BRCA1):c.135-8dupA http://identifiers.org/clinvar/37568 ^@ NM_007294.3(BRCA1):c.4116_4117delTG (p.Cys1372Terfs) http://identifiers.org/clinvar/37620 ^@ NM_007294.3(BRCA1):c.4986+6T>C http://identifiers.org/clinvar/37675 ^@ NM_007294.3(BRCA1):c.548-17G>T http://identifiers.org/clinvar/37729 ^@ NM_000059.3(BRCA2):c.1199T>C (p.Leu400Pro) http://identifiers.org/clinvar/37780 ^@ NM_000059.3(BRCA2):c.229A>G (p.Thr77Ala) http://identifiers.org/clinvar/37834 ^@ NM_000059.3(BRCA2):c.3308T>G (p.Leu1103Ter) http://identifiers.org/clinvar/37886 ^@ NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) http://identifiers.org/clinvar/37939 ^@ NM_000059.3(BRCA2):c.5035delA (p.Thr1679Leufs) http://identifiers.org/clinvar/37992 ^@ NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) http://identifiers.org/clinvar/38044 ^@ NM_000059.3(BRCA2):c.6434_6441delATAATCAC (p.Asn2145Ilefs) http://identifiers.org/clinvar/38097 ^@ NM_000059.3(BRCA2):c.7436-4A>G http://identifiers.org/clinvar/38147 ^@ NM_000059.3(BRCA2):c.825A>T (p.Lys275Asn) http://identifiers.org/clinvar/38197 ^@ NM_000059.3(BRCA2):c.8951C>G (p.Ser2984Ter) http://identifiers.org/clinvar/38247 ^@ NM_000059.3(BRCA2):c.9539T>C (p.Leu3180Pro) http://identifiers.org/clinvar/38309 ^@ NM_000168.5(GLI3):c.2149C>T (p.Gln717Ter) http://identifiers.org/clinvar/38364 ^@ NM_002769.4(PRSS1):c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle) http://identifiers.org/clinvar/38421 ^@ NM_024312.4(GNPTAB):c.2917dupT (p.Glu975Terfs) http://identifiers.org/clinvar/38749 ^@ NM_000495.4(COL4A5):c.476delG (p.Gly159Valfs) http://identifiers.org/clinvar/38806 ^@ NG_015867.1:g.7014_28858del21845 http://identifiers.org/clinvar/38923 ^@ NM_001099274.1(TINF2):c.850A>G (p.Thr284Ala) http://identifiers.org/clinvar/38974 ^@ NM_004614.4(TK2):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/39025 ^@ NM_024312.4(GNPTAB):c.1206dupT (p.Ile403Tyrfs) http://identifiers.org/clinvar/39132 ^@ NM_198578.3(LRRK2):c.1383T= (p.Ser461=) http://identifiers.org/clinvar/39182 ^@ NM_198578.3(LRRK2):c.4290C>T (p.Ala1430=) http://identifiers.org/clinvar/39232 ^@ NM_198578.3(LRRK2):c.7067C>T (p.Thr2356Ile) http://identifiers.org/clinvar/39283 ^@ NR_001566.1(TERC):n.178G>A http://identifiers.org/clinvar/39445 ^@ NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) http://identifiers.org/clinvar/39497 ^@ ANO3, TRP490CYS http://identifiers.org/clinvar/39547 ^@ NM_001139.2(ALOX12B):c.199A>T (p.Ile67Phe) http://identifiers.org/clinvar/39597 ^@ NM_020822.2(KCNT1):c.2782C>T (p.Arg928Cys) http://identifiers.org/clinvar/40717 ^@ NM_005633.3(SOS1):c.3081+13A>G http://identifiers.org/clinvar/40816 ^@ NM_030662.3(MAP2K2):c.660C>A (p.Ile220=) http://identifiers.org/clinvar/40997 ^@ NM_000095.2(COMP):c.2155G>A (p.Gly719Ser) http://identifiers.org/clinvar/41057 ^@ NM_003611.2(OFD1):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/41113 ^@ NM_003611.2(OFD1):c.372C>G (p.Tyr124Ter) http://identifiers.org/clinvar/41166 ^@ NM_003977.3(AIP):c.174G>C (p.Lys58Asn) http://identifiers.org/clinvar/52925 ^@ NM_000059.3(BRCA2):c.994dupA (p.Ile332Asnfs) http://identifiers.org/clinvar/52975 ^@ NM_000218.2(KCNQ1):c.1291dupG (p.Val431Glyfs) http://identifiers.org/clinvar/53025 ^@ NM_000218.2(KCNQ1):c.1892_1911del20 (p.Pro631Hisfs) http://identifiers.org/clinvar/53075 ^@ NM_000218.2(KCNQ1):c.580G>C (p.Ala194Pro) http://identifiers.org/clinvar/53126 ^@ NM_000218.2(KCNQ1):c.921+1G>T http://identifiers.org/clinvar/53178 ^@ NM_000492.3(CFTR):c.1068G>A (p.Trp356Ter) http://identifiers.org/clinvar/53229 ^@ NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) http://identifiers.org/clinvar/53281 ^@ NM_000492.3(CFTR):c.1546A>G (p.Arg516Gly) http://identifiers.org/clinvar/53332 ^@ NM_000492.3(CFTR):c.1680-870T>A http://identifiers.org/clinvar/53382 ^@ NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) http://identifiers.org/clinvar/53434 ^@ NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter) http://identifiers.org/clinvar/53487 ^@ NM_000492.3(CFTR):c.2417A>G (p.Asp806Gly) http://identifiers.org/clinvar/53537 ^@ NM_000492.3(CFTR):c.2657+3delG http://identifiers.org/clinvar/53587 ^@ NM_000492.3(CFTR):c.2896delA (p.Thr966Argfs) http://identifiers.org/clinvar/53638 ^@ NM_000492.3(CFTR):c.3041A>G (p.Tyr1014Cys) http://identifiers.org/clinvar/53690 ^@ NM_000492.3(CFTR):c.3230T>C (p.Leu1077Pro) http://identifiers.org/clinvar/53740 ^@ NM_000492.3(CFTR):c.3430C>T (p.Gln1144Ter) http://identifiers.org/clinvar/53791 ^@ NM_000492.3(CFTR):c.3717G>A (p.Arg1239=) http://identifiers.org/clinvar/53845 ^@ NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) http://identifiers.org/clinvar/53895 ^@ NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) http://identifiers.org/clinvar/53946 ^@ NM_000492.3(CFTR):c.4417G>T (p.Glu1473Ter) http://identifiers.org/clinvar/53996 ^@ NM_000492.3(CFTR):c.543_546delTAGT (p.Leu183Phefs) http://identifiers.org/clinvar/54046 ^@ NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) http://identifiers.org/clinvar/54098 ^@ NM_000492.3(CFTR):c.992T>A (p.Ile331Asn) http://identifiers.org/clinvar/54639 ^@ NM_007294.3(BRCA1):c.2675_2678delTAAA (p.Leu892Terfs) http://identifiers.org/clinvar/54689 ^@ NM_007294.3(BRCA1):c.2818G>T (p.Asp940Tyr) http://identifiers.org/clinvar/54739 ^@ NM_007294.3(BRCA1):c.2990delA (p.Asn997Ilefs) http://identifiers.org/clinvar/54789 ^@ NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) http://identifiers.org/clinvar/54839 ^@ NM_007294.3(BRCA1):c.3326_3329delAAAA (p.Lys1109Serfs) http://identifiers.org/clinvar/54889 ^@ NM_007294.3(BRCA1):c.3450dupT (p.Asp1151Terfs) http://identifiers.org/clinvar/54939 ^@ NM_007294.3(BRCA1):c.3621_3626delGAAATTinsAA (p.Leu1209Serfs) http://identifiers.org/clinvar/54991 ^@ NM_007294.3(BRCA1):c.3759T>G (p.Ser1253=) http://identifiers.org/clinvar/55042 ^@ NM_007294.3:c.38_39delTAinsGGG http://identifiers.org/clinvar/55093 ^@ NM_007294.3(BRCA1):c.4063_4065delAAT (p.Asn1355del) http://identifiers.org/clinvar/55144 ^@ NM_007294.3(BRCA1):c.4220T>C (p.Leu1407Pro) http://identifiers.org/clinvar/55195 ^@ NM_007294.3(BRCA1):c.441+1G>A http://identifiers.org/clinvar/55245 ^@ NM_007294.3(BRCA1):c.4636G>A (p.Asp1546Asn) http://identifiers.org/clinvar/55296 ^@ NM_007294.3(BRCA1):c.4823C>T (p.Ala1608Val) http://identifiers.org/clinvar/55346 ^@ NM_007294.3(BRCA1):c.4987-3C>G http://identifiers.org/clinvar/55396 ^@ NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) http://identifiers.org/clinvar/55446 ^@ NM_007294.3(BRCA1):c.5182delA (p.Met1728Cysfs) http://identifiers.org/clinvar/55498 ^@ NM_007294.3(BRCA1):c.5277+5A>T http://identifiers.org/clinvar/55549 ^@ NM_007294.3(BRCA1):c.5360_5361delGTinsAG (p.Cys1787Ter) http://identifiers.org/clinvar/55599 ^@ NM_007294.3(BRCA1):c.5497_5506delGTGACCCGAG (p.Val1833Serfs) http://identifiers.org/clinvar/55649 ^@ NM_007294.3(BRCA1):c.61delA (p.Ile21Serfs) http://identifiers.org/clinvar/55702 ^@ NM_007294.3(BRCA1):c.789T>C (p.Gly263=) http://identifiers.org/clinvar/55753 ^@ NM_007294.3(BRCA1):c.922_924delAGCinsT (p.Ser308Terfs) http://identifiers.org/clinvar/55825 ^@ NM_005236.2(ERCC4):c.2371_2398dup28 (p.Ile800Thrfs) http://identifiers.org/clinvar/55887 ^@ NM_001258221.1(KCTD1):c.221A>C (p.His74Pro) http://identifiers.org/clinvar/55961 ^@ NM_000100.3(CSTB):c.66G>A (p.Gln22=) http://identifiers.org/clinvar/56013 ^@ NM_000112.3(SLC26A2):c.1242_1245delAAAC (p.Asn415Argfs) http://identifiers.org/clinvar/56064 ^@ NM_000170.2(GLDC):c.2203-2A>G http://identifiers.org/clinvar/56116 ^@ NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) http://identifiers.org/clinvar/56170 ^@ NM_002273.3(KRT8):c.1412G>A (p.Gly471Glu) http://identifiers.org/clinvar/56271 ^@ NM_001042432.1(CLN3):c.461-1G>A http://identifiers.org/clinvar/56634 ^@ NM_017890.4(VPS13B):c.11216G>A (p.Trp3739Ter) http://identifiers.org/clinvar/102423 ^@ NM_003491.3(NAA10):c.471+2T>A http://identifiers.org/clinvar/102484 ^@ NM_000277.1(PAH):c.1033G>T (p.Ala345Ser) http://identifiers.org/clinvar/102541 ^@ NM_000277.1(PAH):c.1162G>C (p.Val388Leu) http://identifiers.org/clinvar/102593 ^@ NM_000277.1(PAH):c.1316-5T>C http://identifiers.org/clinvar/102648 ^@ NM_000277.1(PAH):c.305T>C (p.Ile102Thr) http://identifiers.org/clinvar/102699 ^@ NM_000277.1(PAH):c.491T>C (p.Ile164Thr) http://identifiers.org/clinvar/102749 ^@ NM_000277.1(PAH):c.59A>T (p.Gln20Leu) http://identifiers.org/clinvar/102800 ^@ NM_000277.1(PAH):c.716G>T (p.Gly239Val) http://identifiers.org/clinvar/102850 ^@ NM_000277.1(PAH):c.812A>G (p.His271Arg) http://identifiers.org/clinvar/102902 ^@ NM_000277.1(PAH):c.937G>A (p.Ala313Thr) http://identifiers.org/clinvar/102960 ^@ NM_178844.3(NLRC3):c.2687+86C>G http://identifiers.org/clinvar/103010 ^@ NM_000246.3(CIITA):c.52+9G>A http://identifiers.org/clinvar/103060 ^@ NM_001174081.2(NLRP2):c.280+220C>T http://identifiers.org/clinvar/103110 ^@ NM_006092.2(NOD1):c.375A>G (p.Pro125=) http://identifiers.org/clinvar/103160 ^@ NM_032206.4(NLRC5):c.2418-199T>A http://identifiers.org/clinvar/103210 ^@ NM_032206.4(NLRC5):c.5474G>A (p.Ser1825Asn) http://identifiers.org/clinvar/103260 ^@ NM_144687.3(NLRP12):c.1425A>G (p.Leu475=) http://identifiers.org/clinvar/103310 ^@ NM_176810.2(NLRP13):c.2619-11T>A http://identifiers.org/clinvar/103360 ^@ NM_178844.3(NLRC3):c.1882G>A (p.Val628Ile) http://identifiers.org/clinvar/111234 ^@ NM_005534.3(IFNGR2):c.207-223A>G http://identifiers.org/clinvar/120094 ^@ NM_000895.2(LTA4H):c.-574C>T http://identifiers.org/clinvar/120246 ^@ NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/120296 ^@ NM_000277.1(PAH):c.916delA (p.Ile306Leufs) http://identifiers.org/clinvar/125521 ^@ NM_007294.3(BRCA1):c.80+7C>T http://identifiers.org/clinvar/125608 ^@ U14680.1:n.3235_3238delCAGC http://identifiers.org/clinvar/125676 ^@ NM_007294.3(BRCA1):c.4097-61C>A http://identifiers.org/clinvar/125740 ^@ NM_007294.3(BRCA1):c.4987-11T>C http://identifiers.org/clinvar/126814 ^@ NM_000321.2(RB1):c.508G>T (p.Glu170Ter) http://identifiers.org/clinvar/126867 ^@ NM_000610.3(CD44):c.67+11205G>A http://identifiers.org/clinvar/127397 ^@ NM_000051.3(ATM):c.5009C>T (p.Ala1670Val) http://identifiers.org/clinvar/127447 ^@ NM_000051.3(ATM):c.7630-2A>C http://identifiers.org/clinvar/127498 ^@ NM_000057.3(BLM):c.3397A>G (p.Lys1133Glu) http://identifiers.org/clinvar/127548 ^@ NM_000136.2(FANCC):c.934A>G (p.Ile312Val) http://identifiers.org/clinvar/127598 ^@ NM_000179.2(MSH6):c.468_471delAAAG (p.Glu158Profs) http://identifiers.org/clinvar/127649 ^@ NM_000251.2(MSH2):c.646-4A>G http://identifiers.org/clinvar/127708 ^@ NM_000455.4(STK11):c.901C>T (p.Arg301Trp) http://identifiers.org/clinvar/127758 ^@ NM_000535.6(PMS2):c.1279C>T (p.Arg427Cys) http://identifiers.org/clinvar/127809 ^@ NM_000546.5(TP53):c.365_366delTG (p.Val122Aspfs) http://identifiers.org/clinvar/159953 ^@ NM_006306.3(SMC1A):c.3070A>T (p.Asn1024Tyr) http://identifiers.org/clinvar/159902 ^@ NM_006517.4(SLC16A2):c.1111C>T (p.Arg371Cys) http://identifiers.org/clinvar/160376 ^@ NM_001039569.1(AP1S3):c.11T>G (p.Phe4Cys) http://identifiers.org/clinvar/160828 ^@ GRCh38/hg38 6p12.1(chr6:53931543-54584920)x4 http://identifiers.org/clinvar/160881 ^@ GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 http://identifiers.org/clinvar/160932 ^@ GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 http://identifiers.org/clinvar/160983 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 http://identifiers.org/clinvar/161034 ^@ GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 http://identifiers.org/clinvar/161084 ^@ GRCh37/hg19 14q32.33(chr14:106538421-106774672)x1 http://identifiers.org/clinvar/161134 ^@ NM_152296.4(ATP1A3):c.2267G>A (p.Arg756His) http://identifiers.org/clinvar/161216 ^@ NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) http://identifiers.org/clinvar/161266 ^@ NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) http://identifiers.org/clinvar/161366 ^@ NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) http://identifiers.org/clinvar/161424 ^@ NM_001519.3(BRF1):c.776C>T (p.Thr259Met) http://identifiers.org/clinvar/179743 ^@ NM_206933.2(USH2A):c.13097C>T (p.Ala4366Val) http://identifiers.org/clinvar/179093 ^@ NM_001103.3(ACTN2):c.1460G>T (p.Cys487Phe) http://identifiers.org/clinvar/165108 ^@ NM_001035.2(RYR2):c.8342C>G (p.Thr2781Ser) http://identifiers.org/clinvar/179693 ^@ NM_001035.2(RYR2):c.10293T>C (p.Leu3431=) http://identifiers.org/clinvar/180093 ^@ NM_001035.2(RYR2):c.3921G>A (p.Pro1307=) http://identifiers.org/clinvar/164781 ^@ NM_144573.3(NEXN):c.220A>C (p.Ile74Leu) http://identifiers.org/clinvar/178185 ^@ NM_133378.4(TTN):c.71070A>G (p.Arg23690=) http://identifiers.org/clinvar/179843 ^@ NM_206933.2(USH2A):c.10904C>A (p.Thr3635Asn) http://identifiers.org/clinvar/179343 ^@ NM_206933.2(USH2A):c.1648G>C (p.Asp550His) http://identifiers.org/clinvar/179193 ^@ NM_206933.2(USH2A):c.1448C>T (p.Thr483Met) http://identifiers.org/clinvar/165837 ^@ NM_133378.4(TTN):c.67400G>A (p.Gly22467Glu) http://identifiers.org/clinvar/165924 ^@ NM_001256850.1(TTN):c.56215C>A (p.Leu18739Met) http://identifiers.org/clinvar/165991 ^@ NM_001256850.1(TTN):c.48132G>A (p.Met16044Ile) http://identifiers.org/clinvar/178235 ^@ NM_133378.4(TTN):c.20890G>A (p.Glu6964Lys) http://identifiers.org/clinvar/179593 ^@ NM_133378.4(TTN):c.20187T>C (p.Thr6729=) http://identifiers.org/clinvar/179893 ^@ NM_133378.4(TTN):c.33173-7A>G http://identifiers.org/clinvar/166124 ^@ NM_001256850.1(TTN):c.29647+15C>T http://identifiers.org/clinvar/166247 ^@ NM_133379.4(TTN):c.16516G>T (p.Glu5506Ter) http://identifiers.org/clinvar/166297 ^@ NM_133378.4(TTN):c.9485A>G (p.Gln3162Arg) http://identifiers.org/clinvar/164875 ^@ NM_194248.2(OTOF):c.1020C>T (p.Asp340=) http://identifiers.org/clinvar/179493 ^@ NM_005633.3(SOS1):c.88-14C>G http://identifiers.org/clinvar/179393 ^@ NM_194248.2(OTOF):c.3866C>T (p.Thr1289Ile) http://identifiers.org/clinvar/179143 ^@ NM_006005.3(WFS1):c.1441C>T (p.Leu481=) http://identifiers.org/clinvar/178585 ^@ NM_006005.3(WFS1):c.449C>T (p.Ala150Val) http://identifiers.org/clinvar/177682 ^@ NM_000441.1(SLC26A4):c.1592A>C (p.Lys531Thr) http://identifiers.org/clinvar/179643 ^@ NM_004999.3(MYO6):c.3207_3212delTGCTGGinsATCCTACATACTTAAAATTTCTT (p.Ala1070Serfs) http://identifiers.org/clinvar/165262 ^@ NM_000441.1(SLC26A4):c.2063T>C (p.Val688Ala) http://identifiers.org/clinvar/177933 ^@ NM_005228.4(EGFR):c.2238_2248delATTAAGAGAAGinsGC (p.Leu747_Ala750delinsPro) http://identifiers.org/clinvar/164983 ^@ NM_002700.2(POU4F3):c.663C>A (p.Gly221=) http://identifiers.org/clinvar/198430 ^@ NM_000540.2(RYR1):c.624C>T (p.Cys208=) http://identifiers.org/clinvar/198480 ^@ NM_002225.3(IVD):c.793+1G>A http://identifiers.org/clinvar/198534 ^@ NM_005957.4(MTHFR):c.1064C>T (p.Pro355Leu) http://identifiers.org/clinvar/198586 ^@ NM_022124.5(CDH23):c.619G>A (p.Ala207Thr) http://identifiers.org/clinvar/198638 ^@ NM_004006.2(DMD):c.10128A>G (p.Leu3376=) http://identifiers.org/clinvar/198688 ^@ NM_000033.3(ABCD1):c.1818G>A (p.Ser606=) http://identifiers.org/clinvar/198743 ^@ NM_000550.2(TYRP1):c.1557T>G (p.Tyr519Ter) http://identifiers.org/clinvar/198795 ^@ NM_004385.4(VCAN):c.4546A>G (p.Lys1516Glu) http://identifiers.org/clinvar/198849 ^@ NM_007254.3(PNKP):c.762C>T (p.His254=) http://identifiers.org/clinvar/198902 ^@ NM_022437.2(ABCG8):c.1199C>A (p.Thr400Lys) http://identifiers.org/clinvar/198955 ^@ NM_182914.2(SYNE2):c.15445C>T (p.Arg5149Cys) http://identifiers.org/clinvar/203111 ^@ NM_001256850.1(TTN):c.102170T>C (p.Leu34057Pro) http://identifiers.org/clinvar/203061 ^@ NM_001256850.1(TTN):c.95903G>A (p.Arg31968Gln) http://identifiers.org/clinvar/203011 ^@ NM_001256850.1(TTN):c.90419G>A (p.Arg30140Gln) http://identifiers.org/clinvar/202961 ^@ NM_001256850.1(TTN):c.85070C>T (p.Ser28357Leu) http://identifiers.org/clinvar/202911 ^@ NM_001256850.1(TTN):c.77462C>T (p.Thr25821Met) http://identifiers.org/clinvar/202861 ^@ NM_001256850.1(TTN):c.70438A>G (p.Ile23480Val) http://identifiers.org/clinvar/202811 ^@ NM_001256850.1(TTN):c.62651C>T (p.Ala20884Val) http://identifiers.org/clinvar/231079 ^@ NM_000038.5(APC):c.5465T>G (p.Val1822Gly) http://identifiers.org/clinvar/230979 ^@ NM_005732.3(RAD50):c.3447C>T (p.Asp1149=) http://identifiers.org/clinvar/234232 ^@ NM_005732.3(RAD50):c.3633C>T (p.Leu1211=) http://identifiers.org/clinvar/230279 ^@ NM_000535.6(PMS2):c.1646T>C (p.Val549Ala) http://identifiers.org/clinvar/230179 ^@ NM_000535.6(PMS2):c.1023G>A (p.Arg341=) http://identifiers.org/clinvar/233781 ^@ NM_000535.6(PMS2):c.251-2A>C http://identifiers.org/clinvar/230379 ^@ NM_002485.4(NBN):c.1516C>G (p.Gln506Glu) http://identifiers.org/clinvar/234182 ^@ NM_000314.6(PTEN):c.906C>G (p.Ser302Arg) http://identifiers.org/clinvar/234132 ^@ NM_000051.3(ATM):c.3078G>T (p.Trp1026Cys) http://identifiers.org/clinvar/229979 ^@ NM_000051.3(ATM):c.6820G>T (p.Ala2274Ser) http://identifiers.org/clinvar/230229 ^@ NM_000051.3(ATM):c.6923C>T (p.Ala2308Val) http://identifiers.org/clinvar/234082 ^@ NM_005591.3(MRE11):c.222C>G (p.Thr74=) http://identifiers.org/clinvar/230129 ^@ NM_000059.3(BRCA2):c.92_106delGGTTTGAAGAACTTT (p.Trp31_Leu35del) http://identifiers.org/clinvar/230529 ^@ NM_000059.3(BRCA2):c.3257_3258delTA (p.Ile1086Asnfs) http://identifiers.org/clinvar/230729 ^@ NM_000059.3(BRCA2):c.5245T>C (p.Tyr1749His) http://identifiers.org/clinvar/230779 ^@ NM_024675.3(PALB2):c.1902A>G (p.Pro634=) http://identifiers.org/clinvar/230329 ^@ NM_001042492.2(NF1):c.2073G>A (p.Leu691=) http://identifiers.org/clinvar/234032 ^@ NM_001042492.2(NF1):c.3921T>G (p.Ile1307Met) http://identifiers.org/clinvar/230679 ^@ NM_001042492.2(NF1):c.6813T>A (p.Leu2271=) http://identifiers.org/clinvar/230029 ^@ NM_007294.3(BRCA1):c.3875C>A (p.Ser1292Tyr) http://identifiers.org/clinvar/233831 ^@ NM_007294.3(BRCA1):c.2757T>C (p.Pro919=) http://identifiers.org/clinvar/230479 ^@ NM_007294.3(BRCA1):c.2316A>C (p.Val772=) http://identifiers.org/clinvar/230829 ^@ NM_058216.2(RAD51C):c.36G>C (p.Arg12=) http://identifiers.org/clinvar/230429 ^@ NM_032043.2(BRIP1):c.3079G>A (p.Glu1027Lys) http://identifiers.org/clinvar/233882 ^@ NM_032043.2(BRIP1):c.1207C>A (p.Arg403=) http://identifiers.org/clinvar/230629 ^@ NM_000546.5(TP53):c.459C>T (p.Pro153=) http://identifiers.org/clinvar/230579 ^@ NM_007194.3(CHEK2):c.1558_1559insC (p.Lys520Thrfs) http://identifiers.org/clinvar/230079 ^@ NM_007194.3(CHEK2):c.432T>G (p.Phe144Leu) http://identifiers.org/clinvar/235057 ^@ NM_198056.2(SCN5A):c.1073T>C (p.Phe358Ser) http://identifiers.org/clinvar/235007 ^@ NC_012920.1:m.3907G>A http://identifiers.org/clinvar/235145 ^@ NM_033312.2(CDC14A):c.1126C>T (p.Arg376Ter) http://identifiers.org/clinvar/235246 ^@ NM_007254.3(PNKP):c.265dupG (p.Val89Glyfs) http://identifiers.org/clinvar/235298 ^@ NM_001097579.1(GPR34):c.884A>G (p.Asn295Ser) http://identifiers.org/clinvar/236266 ^@ NM_007294.3(BRCA1):c.1150G>T (p.Glu384Ter) http://identifiers.org/clinvar/236317 ^@ NC_000016.8:g.29554843_30085308del530466 http://identifiers.org/clinvar/236367 ^@ NC_000015.8:g.20306549_20635884dup329336 http://identifiers.org/clinvar/242382 ^@ NM_000157.3(GBA):c.1197G>T (p.Gly399=) http://identifiers.org/clinvar/236518 ^@ NM_000350.2(ABCA4):c.2566T>A (p.Tyr856Asn) http://identifiers.org/clinvar/236418 ^@ NM_006269.1(RP1):c.1598_1601delGAAA (p.Arg533Lysfs) http://identifiers.org/clinvar/236468 ^@ NM_025114.3(CEP290):c.1781T>A (p.Leu594Ter) http://identifiers.org/clinvar/240958 ^@ NM_015074.3(KIF1B):c.3917+6A>G http://identifiers.org/clinvar/242258 ^@ NM_201555.1(FHL2):c.191C>G (p.Ala64Gly) http://identifiers.org/clinvar/238864 ^@ NM_001267550.2(TTN):c.92979A>C (p.Lys30993Asn) http://identifiers.org/clinvar/241308 ^@ NM_020919.3(ALS2):c.1425_1428delAGAG (p.Gly477Alafs) http://identifiers.org/clinvar/239818 ^@ NM_004304.4(ALK):c.3067G>A (p.Val1023Met) http://identifiers.org/clinvar/237374 ^@ NM_000251.2(MSH2):c.1759+11_1759+15delTAGAA http://identifiers.org/clinvar/237173 ^@ NM_000179.2(MSH6):c.3006C>T (p.Gly1002=) http://identifiers.org/clinvar/241008 ^@ NM_015120.4(ALMS1):c.63_77delGGAGGAGGAGGAGGA (p.Glu25_Glu29del) http://identifiers.org/clinvar/241758 ^@ NM_053025.3(MYLK):c.3659C>T (p.Ala1220Val) http://identifiers.org/clinvar/237324 ^@ NM_000249.3(MLH1):c.1937A>C (p.Tyr646Ser) http://identifiers.org/clinvar/242208 ^@ NM_198056.2(SCN5A):c.858G>A (p.Ala286=) http://identifiers.org/clinvar/240068 ^@ NM_004656.3(BAP1):c.878C>T (p.Pro293Leu) http://identifiers.org/clinvar/240369 ^@ NM_006206.4(PDGFRA):c.995T>A (p.Val332Asp) http://identifiers.org/clinvar/240319 ^@ NM_006206.4(PDGFRA):c.1891C>T (p.Pro631Ser) http://identifiers.org/clinvar/237274 ^@ NM_000222.2(KIT):c.338-4A>T http://identifiers.org/clinvar/241858 ^@ NM_139076.2(FAM175A):c.727C>G (p.Leu243Val) http://identifiers.org/clinvar/236568 ^@ NM_000038.5(APC):c.2031_2034delCAGT (p.Ser678Metfs) http://identifiers.org/clinvar/236618 ^@ NM_000038.5(APC):c.5319T>C (p.Thr1773=) http://identifiers.org/clinvar/240219 ^@ NM_005732.3(RAD50):c.1966C>T (p.Arg656Ter) http://identifiers.org/clinvar/238964 ^@ NM_001369.2(DNAH5):c.13775G>A (p.Arg4592Gln) http://identifiers.org/clinvar/239065 ^@ NM_001903.4(CTNNA1):c.302-7A>G http://identifiers.org/clinvar/239668 ^@ NM_004168.3(SDHA):c.442G>A (p.Ala148Thr) http://identifiers.org/clinvar/239415 ^@ NM_002890.2(RASA1):c.304G>T (p.Val102Leu) http://identifiers.org/clinvar/239215 ^@ NM_002667.4(PLN):c.-97-?_*1344+?dup1600 http://identifiers.org/clinvar/239115 ^@ NM_002290.4(LAMA4):c.730G>C (p.Gly244Arg) http://identifiers.org/clinvar/241408 ^@ NM_021930.5(RINT1):c.413C>T (p.Ala138Val) http://identifiers.org/clinvar/238914 ^@ NM_001277115.1(DNAH11):c.3946A>G (p.Met1316Val) http://identifiers.org/clinvar/261807 ^@ NM_025074.6(FRAS1):c.4635G>A (p.Pro1545=) http://identifiers.org/clinvar/258517 ^@ NM_001999.3(FBN2):c.4345+19G>A http://identifiers.org/clinvar/261557 ^@ NM_022132.4(MCCC2):c.1574+37C>G http://identifiers.org/clinvar/257378 ^@ NM_001080479.2(ARHGEF28):c.851C>A (p.Pro284Gln) http://identifiers.org/clinvar/254739 ^@ NM_000046.3(ARSB):c.313-26T>C http://identifiers.org/clinvar/259367 ^@ NM_004385.4(VCAN):c.5155A>T (p.Thr1719Ser) http://identifiers.org/clinvar/262157 ^@ NM_033071.3(SYNE1):c.12139-22T>A http://identifiers.org/clinvar/262207 ^@ NM_033071.3(SYNE1):c.9993+19A>G http://identifiers.org/clinvar/261107 ^@ NM_019105.6(TNXB):c.11381-9T>C http://identifiers.org/clinvar/261157 ^@ NM_019105.6(TNXB):c.7297G>A (p.Val2433Ile) http://identifiers.org/clinvar/262307 ^@ NM_080680.2(COL11A2):c.1980C>T (p.Pro660=) http://identifiers.org/clinvar/257628 ^@ NM_001206927.1(DNAH8):c.13054-17T>C http://identifiers.org/clinvar/259617 ^@ NM_005045.3(RELN):c.8950+30G>A http://identifiers.org/clinvar/260268 ^@ NM_012470.3(TNPO3):c.759C>G (p.Leu253=) http://identifiers.org/clinvar/255439 ^@ NM_000168.5(GLI3):c.3894G>A (p.Pro1298=) http://identifiers.org/clinvar/261307 ^@ NM_020476.2(ANK1):c.3973A>G (p.Met1325Val) http://identifiers.org/clinvar/260418 ^@ NM_014425.4(INVS):c.616-19T>C http://identifiers.org/clinvar/255139 ^@ NM_000113.2(TOR1A):c.875T>C (p.Ile292Thr) http://identifiers.org/clinvar/255089 ^@ NM_000093.4(COL5A1):c.4608+31T>C http://identifiers.org/clinvar/260118 ^@ NM_007126.3(VCP):c.1081+17C>T http://identifiers.org/clinvar/259768 ^@ NM_005445.3(SMC3):c.2116+23G>A http://identifiers.org/clinvar/256878 ^@ NM_001008211.1(OPTN):c.1324C>T (p.Leu442=) http://identifiers.org/clinvar/258967 ^@ NM_003156.3(STIM1):c.1138-9T>C http://identifiers.org/clinvar/259167 ^@ NM_003793.3(CTSF):c.1368C>T (p.Asp456=) http://identifiers.org/clinvar/258567 ^@ NM_002180.2(IGHMBP2):c.2080C>T (p.Arg694Trp) http://identifiers.org/clinvar/255489 ^@ NM_000192.3(TBX5):c.*40A>G http://identifiers.org/clinvar/260168 ^@ NM_012062.4(DNM1L):c.918A>G (p.Thr306=) http://identifiers.org/clinvar/256678 ^@ NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) http://identifiers.org/clinvar/261757 ^@ NM_024685.3(BBS10):c.63G>A (p.Leu21=) http://identifiers.org/clinvar/262257 ^@ NM_052867.2(NALCN):c.2520C>T (p.Val840=) http://identifiers.org/clinvar/261457 ^@ NM_021954.3(GJA3):c.1017G>A (p.Ala339=) http://identifiers.org/clinvar/261607 ^@ NM_022489.3(INF2):c.2322C>T (p.Thr774=) http://identifiers.org/clinvar/257128 ^@ NM_001024858.2(SPTB):c.4860T>C (p.Ile1620=) http://identifiers.org/clinvar/261957 ^@ NM_031427.3(DNAL1):c.153-12G>C http://identifiers.org/clinvar/260318 ^@ NM_014080.4(DUOX2):c.2102G>A (p.Arg701Gln) http://identifiers.org/clinvar/332913 ^@ NM_133378.4(TTN):c.18941G>T (p.Gly6314Val) http://identifiers.org/clinvar/333013 ^@ NM_201548.4(CERKL):c.239-4dupT http://identifiers.org/clinvar/335804 ^@ NM_000348.3(SRD5A2):c.*1151_*1152dupTT http://identifiers.org/clinvar/332863 ^@ NM_133378.4(TTN):c.37350G>A (p.Ala12450=) http://identifiers.org/clinvar/333163 ^@ NM_014585.5(SLC40A1):c.1569C>T (p.Leu523=) http://identifiers.org/clinvar/333213 ^@ NM_000534.4(PMS1):c.*10T>A http://identifiers.org/clinvar/332963 ^@ NM_133378.4(TTN):c.3165-9T>C http://identifiers.org/clinvar/335504 ^@ NM_000221.2(KHK):c.*52C>T http://identifiers.org/clinvar/333263 ^@ NM_007315.3(STAT1):c.*154T>C http://identifiers.org/clinvar/333363 ^@ NM_001006657.1(WDR35):c.*553G>T http://identifiers.org/clinvar/335854 ^@ NM_014946.3(SPAST):c.*892T>G http://identifiers.org/clinvar/336971 ^@ NM_003494.3(DYSF):c.4198C>G (p.Pro1400Ala) http://identifiers.org/clinvar/334254 ^@ NM_173076.2(ABCA12):c.2868T>G (p.Val956=) http://identifiers.org/clinvar/334204 ^@ NM_173076.2(ABCA12):c.*1052_*1055dupTTGT http://identifiers.org/clinvar/334504 ^@ NM_015311.2(OBSL1):c.2656G>A (p.Ala886Thr) http://identifiers.org/clinvar/336921 ^@ NM_001692.3(ATP6V1B1):c.993G>T (p.Arg331=) http://identifiers.org/clinvar/342301 ^@ NM_016247.3(IMPG2):c.*1595G>A http://identifiers.org/clinvar/334804 ^@ NM_000091.4(COL4A3):c.*1069_*1070dupAA http://identifiers.org/clinvar/334554 ^@ NM_181457.3(PAX3):c.*105T>G http://identifiers.org/clinvar/334604 ^@ NM_003590.4(CUL3):c.*2117dupT http://identifiers.org/clinvar/334654 ^@ NM_000092.4(COL4A4):c.*3876G>A http://identifiers.org/clinvar/337421 ^@ NM_004836.6(EIF2AK3):c.13A>G (p.Ile5Val) http://identifiers.org/clinvar/337471 ^@ NM_017849.3(TMEM127):c.*2012C>T http://identifiers.org/clinvar/334754 ^@ NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) http://identifiers.org/clinvar/342940 ^@ NM_000373.3(UMPS):c.*691C>G http://identifiers.org/clinvar/335204 ^@ NM_004544.3(NDUFA10):c.-36C>T http://identifiers.org/clinvar/334854 ^@ NM_025243.3(SLC19A3):c.*1121G>A http://identifiers.org/clinvar/343140 ^@ NM_032638.4(GATA2):c.204G>T (p.Ala68=) http://identifiers.org/clinvar/335354 ^@ NM_001035256.2(POMC):c.585C>T (p.Ala195=) http://identifiers.org/clinvar/342351 ^@ NM_016247.3(IMPG2):c.1319G>A (p.Gly440Asp) http://identifiers.org/clinvar/334954 ^@ NM_152383.4(DIS3L2):c.*127A>G http://identifiers.org/clinvar/335004 ^@ NM_005199.4(CHRNG):c.474C>T (p.Pro158=) http://identifiers.org/clinvar/343290 ^@ NM_000539.3(RHO):c.*232A>G http://identifiers.org/clinvar/335054 ^@ NM_002242.4(KCNJ13):c.621A>G (p.Val207=) http://identifiers.org/clinvar/335554 ^@ NM_144631.5(ZNF513):c.950G>A (p.Arg317Gln) http://identifiers.org/clinvar/343440 ^@ NM_001063.3(TF):c.804T>C (p.His268=) http://identifiers.org/clinvar/343540 ^@ NM_024334.2(TMEM43):c.*1642T>G http://identifiers.org/clinvar/335254 ^@ NM_004321.7(KIF1A):c.4761G>A (p.Pro1587=) http://identifiers.org/clinvar/335304 ^@ NM_000030.2(AGXT):c.*162A>G http://identifiers.org/clinvar/343640 ^@ NM_000935.2(PLOD2):c.*292C>T http://identifiers.org/clinvar/335404 ^@ NM_000183.2(HADHB):c.272C>T (p.Thr91Ile) http://identifiers.org/clinvar/335454 ^@ NM_194248.2(OTOF):c.1149G>C (p.Gly383=) http://identifiers.org/clinvar/343240 ^@ NM_052985.3(IFT122):c.1447A>G (p.Lys483Glu) http://identifiers.org/clinvar/335754 ^@ NM_000379.3(XDH):c.*41G>C http://identifiers.org/clinvar/354556 ^@ NM_002397.4(MEF2C):c.*3200C>T http://identifiers.org/clinvar/355006 ^@ NM_004752.3(GCM2):c.1431T>A (p.Thr477=) http://identifiers.org/clinvar/358585 ^@ NM_000108.4(DLD):c.*1088A>G http://identifiers.org/clinvar/358635 ^@ NM_014491.3(FOXP2):c.*1210A>G http://identifiers.org/clinvar/358685 ^@ NM_001127500.2(MET):c.1320A>G (p.Thr440=) http://identifiers.org/clinvar/358785 ^@ NM_006193.2(PAX4):c.*477_*478insATGT http://identifiers.org/clinvar/351469 ^@ NM_054027.4(ANKH):c.*1270A>C http://identifiers.org/clinvar/351569 ^@ NM_024577.3(SH3TC2):c.*22168C>G http://identifiers.org/clinvar/351769 ^@ NM_024577.3(SH3TC2):c.*7292C>T http://identifiers.org/clinvar/358935 ^@ NM_018718.2(CEP41):c.*593G>A http://identifiers.org/clinvar/359085 ^@ NM_018238.3(AGK):c.*1308_*1311delAATT http://identifiers.org/clinvar/355946 ^@ NM_033071.3(SYNE1):c.508A>T (p.Thr170Ser) http://identifiers.org/clinvar/359135 ^@ NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His) http://identifiers.org/clinvar/355996 ^@ NM_004562.2(PRKN):c.*1462C>A http://identifiers.org/clinvar/351969 ^@ NM_000440.2(PDE6A):c.*828dupA http://identifiers.org/clinvar/356096 ^@ NM_000367.4(TPMT):c.*1305C>G http://identifiers.org/clinvar/352067 ^@ NM_000112.3(SLC26A2):c.*2772C>T http://identifiers.org/clinvar/356196 ^@ NM_000410.3(HFE):c.829G>A (p.Glu277Lys) http://identifiers.org/clinvar/352167 ^@ NM_005211.3(CSF1R):c.593-9C>T http://identifiers.org/clinvar/356246 ^@ NM_000063.5(C2):c.1066C>T (p.Leu356Phe) http://identifiers.org/clinvar/352019 ^@ NM_000112.3(SLC26A2):c.-162T>C http://identifiers.org/clinvar/352267 ^@ NM_000405.4(GM2A):c.*426C>T http://identifiers.org/clinvar/356596 ^@ NM_005943.5(MOCS1):c.*2432_*2435dupATAG http://identifiers.org/clinvar/356746 ^@ NM_000322.4(PRPH2):c.*1534T>C http://identifiers.org/clinvar/352417 ^@ NM_000337.5(SGCD):c.*6045A>G http://identifiers.org/clinvar/353606 ^@ NM_002310.5(LIFR):c.3279C>T (p.Asn1093=) http://identifiers.org/clinvar/353656 ^@ NM_000436.3(OXCT1):c.*26G>A http://identifiers.org/clinvar/357935 ^@ NM_004415.3(DSP):c.9C>T (p.Cys3=) http://identifiers.org/clinvar/353706 ^@ NM_000163.4(GHR):c.*1516_*1518delTTG http://identifiers.org/clinvar/353756 ^@ NM_002203.3(ITGA2):c.1638C>T (p.Pro546=) http://identifiers.org/clinvar/363833 ^@ NM_000067.2(CA2):c.40G>A (p.Glu14Lys) http://identifiers.org/clinvar/363883 ^@ NM_019098.4(CNGB3):c.494-11T>C http://identifiers.org/clinvar/306430 ^@ NM_001814.5(CTSC):c.173-6delC http://identifiers.org/clinvar/364233 ^@ NM_014425.4(INVS):c.2874A>G (p.Thr958=) http://identifiers.org/clinvar/363983 ^@ NM_177965.3(C8orf37):c.*2330C>T http://identifiers.org/clinvar/306830 ^@ NM_000618.4(IGF1):c.*6433G>C http://identifiers.org/clinvar/364483 ^@ NM_001079802.1(FKTN):c.-181+1G>T http://identifiers.org/clinvar/307080 ^@ NM_052845.3(MMAB):c.542C>T (p.Ala181Val) http://identifiers.org/clinvar/364533 ^@ NM_001079802.1(FKTN):c.*5817A>C http://identifiers.org/clinvar/364433 ^@ NM_005502.3(ABCA1):c.2311G>A (p.Val771Met) http://identifiers.org/clinvar/364583 ^@ NM_003640.4(IKBKAP):c.178G>C (p.Glu60Gln) http://identifiers.org/clinvar/364933 ^@ NM_002316.3(LMX1B):c.*1542A>G http://identifiers.org/clinvar/364983 ^@ NM_002316.3(LMX1B):c.*3864T>C http://identifiers.org/clinvar/364783 ^@ NM_018249.5(CDK5RAP2):c.507+5G>C http://identifiers.org/clinvar/364833 ^@ NM_000177.4(GSN):c.*113_*116dupGTGT http://identifiers.org/clinvar/365183 ^@ NM_001130438.2(SPTAN1):c.*20A>G http://identifiers.org/clinvar/301136 ^@ NM_001002295.1(GATA3):c.*356G>A http://identifiers.org/clinvar/365383 ^@ NM_015046.5(SETX):c.-154G>C http://identifiers.org/clinvar/365083 ^@ NM_000118.3(ENG):c.*368C>T http://identifiers.org/clinvar/301336 ^@ NM_001080116.1(LDB3):c.582C>T (p.Ser194=) http://identifiers.org/clinvar/308669 ^@ NM_198578.3(LRRK2):c.*1018G>T http://identifiers.org/clinvar/365533 ^@ NM_139025.4(ADAMTS13):c.-155C>T http://identifiers.org/clinvar/308719 ^@ NM_153026.2(PRICKLE1):c.-279_-277dupCCC http://identifiers.org/clinvar/365633 ^@ NM_000787.3(DBH):c.259T>C (p.Phe87Leu) http://identifiers.org/clinvar/301586 ^@ NM_000235.3(LIPA):c.-43G>A http://identifiers.org/clinvar/365283 ^@ NM_007171.3(POMT1):c.2070-9C>T http://identifiers.org/clinvar/365333 ^@ NM_015046.5(SETX):c.*351G>T http://identifiers.org/clinvar/309119 ^@ NM_006009.3(TUBA1A):c.-78C>A http://identifiers.org/clinvar/309269 ^@ NM_000486.5(AQP2):c.*2938C>T http://identifiers.org/clinvar/298337 ^@ NM_000195.4(HPS1):c.1928G>A (p.Gly643Glu) http://identifiers.org/clinvar/309419 ^@ NM_014191.3(SCN8A):c.*4174A>G http://identifiers.org/clinvar/309469 ^@ NM_000020.2(ACVRL1):c.*1493G>A http://identifiers.org/clinvar/309569 ^@ NM_000424.3(KRT5):c.357C>A (p.Gly119=) http://identifiers.org/clinvar/309619 ^@ NM_000423.2(KRT2):c.407G>A (p.Gly136Glu) http://identifiers.org/clinvar/309769 ^@ NM_001173467.2(SP7):c.-47-15C>G http://identifiers.org/clinvar/302275 ^@ NM_000051.3(ATM):c.*1882C>G http://identifiers.org/clinvar/302325 ^@ NM_002906.3(RDX):c.*1258_*1263delCTGTGT http://identifiers.org/clinvar/366623 ^@ NM_001497.3(B4GALT1):c.*1675dupT http://identifiers.org/clinvar/310508 ^@ NM_002469.2(MYF6):c.634G>A (p.Ala212Thr) http://identifiers.org/clinvar/310558 ^@ NM_020661.3(AICDA):c.*1137A>G http://identifiers.org/clinvar/366373 ^@ NM_003383.4(VLDLR):c.2103A>C (p.Ser701=) http://identifiers.org/clinvar/366423 ^@ NM_000459.4(TEK):c.1387A>G (p.Ile463Val) http://identifiers.org/clinvar/310663 ^@ NM_001920.4(DCN):c.33A>G (p.Ala11=) http://identifiers.org/clinvar/366473 ^@ NM_000459.4(TEK):c.*579T>C http://identifiers.org/clinvar/310713 ^@ NM_002108.3(HAL):c.904-5G>A http://identifiers.org/clinvar/310963 ^@ NM_002312.3(LIG4):c.*242A>G http://identifiers.org/clinvar/340450 ^@ NM_006657.2(FTCD):c.48C>G (p.Asn16Lys) http://identifiers.org/clinvar/322037 ^@ NM_144997.5(FLCN):c.*1179dupT http://identifiers.org/clinvar/322087 ^@ NM_144997.5(FLCN):c.-487G>C http://identifiers.org/clinvar/314512 ^@ NM_013382.5(POMT2):c.*2091G>T http://identifiers.org/clinvar/341101 ^@ NM_000268.3(NF2):c.*1208C>T http://identifiers.org/clinvar/341151 ^@ NM_000268.3(NF2):c.*2499C>A http://identifiers.org/clinvar/341251 ^@ NM_000343.3(SLC5A1):c.1230C>G (p.Tyr410Ter) http://identifiers.org/clinvar/341351 ^@ NM_000362.4(TIMP3):c.*213dupA http://identifiers.org/clinvar/341401 ^@ NM_000362.4(TIMP3):c.*3028G>A http://identifiers.org/clinvar/341551 ^@ NM_013416.3(NCF4):c.270A>T (p.Pro90=) http://identifiers.org/clinvar/341601 ^@ NM_153609.3(TMPRSS6):c.478G>A (p.Glu160Lys) http://identifiers.org/clinvar/315362 ^@ NM_144599.4(NIPA1):c.*3316T>C http://identifiers.org/clinvar/341801 ^@ NM_001429.3(EP300):c.3143-7T>G http://identifiers.org/clinvar/342201 ^@ NM_000487.5(ARSA):c.*1404dupT http://identifiers.org/clinvar/342251 ^@ NM_000487.5(ARSA):c.-362G>C http://identifiers.org/clinvar/367802 ^@ NM_001167.3(XIAP):c.*870G>C http://identifiers.org/clinvar/314212 ^@ NM_182894.2(VSX2):c.*455C>T http://identifiers.org/clinvar/314262 ^@ NM_000428.2(LTBP2):c.*147A>T http://identifiers.org/clinvar/314312 ^@ NM_000428.2(LTBP2):c.1132A>C (p.Thr378Pro) http://identifiers.org/clinvar/316201 ^@ NM_001482.2(GATM):c.*913G>A http://identifiers.org/clinvar/314362 ^@ NM_001040108.1(MLH3):c.*1237A>G http://identifiers.org/clinvar/314462 ^@ NM_003239.4(TGFB3):c.-614C>T http://identifiers.org/clinvar/314712 ^@ NM_000369.2(TSHR):c.*960T>C http://identifiers.org/clinvar/316751 ^@ NM_001101362.2(KBTBD13):c.1101C>T (p.Cys367=) http://identifiers.org/clinvar/314862 ^@ NM_006329.3(FBLN5):c.*647C>T http://identifiers.org/clinvar/317051 ^@ NM_000520.5(HEXA):c.-136G>A http://identifiers.org/clinvar/317201 ^@ NM_000137.2(FAH):c.-23A>C http://identifiers.org/clinvar/315062 ^@ NM_177438.2(DICER1):c.*2754_*2756delGAT http://identifiers.org/clinvar/324945 ^@ NM_000346.3(SOX9):c.*1823C>T http://identifiers.org/clinvar/315312 ^@ NM_139057.3(ADAMTS17):c.751G>A (p.Glu251Lys) http://identifiers.org/clinvar/324995 ^@ NM_000018.3(ACADVL):c.1581G>A (p.Pro527=) http://identifiers.org/clinvar/317402 ^@ NM_000057.3(BLM):c.-70G>T http://identifiers.org/clinvar/315512 ^@ NM_002420.5(TRPM1):c.2307T>C (p.Tyr769=) http://identifiers.org/clinvar/325195 ^@ NM_001005731.2(ITGB4):c.4349-4C>G http://identifiers.org/clinvar/325245 ^@ NM_199242.2(UNC13D):c.3033C>T (p.Ala1011=) http://identifiers.org/clinvar/317652 ^@ NM_000875.4(IGF1R):c.*6780G>T http://identifiers.org/clinvar/325295 ^@ NM_004035.6(ACOX1):c.*5117A>C http://identifiers.org/clinvar/315162 ^@ NM_139057.3(ADAMTS17):c.*2079C>T http://identifiers.org/clinvar/315262 ^@ NM_139057.3(ADAMTS17):c.2637A>G (p.Lys879=) http://identifiers.org/clinvar/325645 ^@ NM_001143990.1(WRAP53):c.-1-1206G>A http://identifiers.org/clinvar/325595 ^@ NM_006640.4(SEPT9):c.*740C>T http://identifiers.org/clinvar/325746 ^@ NM_017950.3(CCDC40):c.2926G>C (p.Glu976Gln) http://identifiers.org/clinvar/316251 ^@ NM_000338.2(SLC12A1):c.-113A>C http://identifiers.org/clinvar/374065 ^@ NM_015570.3(AUTS2):c.3398_3400dupACC (p.His1133_Pro1134insHis) http://identifiers.org/clinvar/374165 ^@ NM_004329.2(BMPR1A):c.502_504delATC (p.Ile169del) http://identifiers.org/clinvar/374115 ^@ NM_000138.4(FBN1):c.840_843delTGAA (p.Asn280Lysfs) http://identifiers.org/clinvar/373965 ^@ NM_000304.3(PMP22):c.422T>G (p.Val141Gly) http://identifiers.org/clinvar/374015 ^@ NM_000212.2(ITGB3):c.1699C>T (p.Gln567Ter) http://identifiers.org/clinvar/373915 ^@ NM_030582.3(COL18A1):c.3559G>A (p.Gly1187Ser) http://identifiers.org/clinvar/374219 ^@ NM_004523.3(KIF11):c.862_871delATAAATCAAT (p.Ile288Profs) http://identifiers.org/clinvar/374339 ^@ NM_000028.2(AGL):c.4353G>T (p.Trp1451Cys) http://identifiers.org/clinvar/374269 ^@ NM_001193466.1(KANSL1):c.985_995delTTGAGCAAACT (p.Leu329Alafs) http://identifiers.org/clinvar/374707 ^@ NM_014191.3(SCN8A):c.1141C>T (p.Arg381Ter) http://identifiers.org/clinvar/374757 ^@ NM_001458.4(FLNC):c.3458T>G (p.Phe1153Cys) http://identifiers.org/clinvar/378965 ^@ NM_000179.2(MSH6):c.342C>T (p.Pro114=) http://identifiers.org/clinvar/380807 ^@ NM_004369.3(COL6A3):c.-31+17T>C http://identifiers.org/clinvar/382900 ^@ NM_032806.5(POMGNT2):c.537G>C (p.Leu179=) http://identifiers.org/clinvar/391191 ^@ NM_003242.5(TGFBR2):c.95-20A>G http://identifiers.org/clinvar/379315 ^@ NM_000251.2(MSH2):c.-42G>A http://identifiers.org/clinvar/384252 ^@ NM_018297.3(NGLY1):c.972G>A (p.Gly324=) http://identifiers.org/clinvar/385853 ^@ NM_178862.2(STT3B):c.2401-17G>T http://identifiers.org/clinvar/379565 ^@ NM_000249.3(MLH1):c.1062C>G (p.Gly354=) http://identifiers.org/clinvar/387192 ^@ NM_198056.2(SCN5A):c.5559T>C (p.Ile1853=) http://identifiers.org/clinvar/383351 ^@ NM_000179.2(MSH6):c.3801+19T>C http://identifiers.org/clinvar/390941 ^@ NM_005911.5(MAT2A):c.-15C>T http://identifiers.org/clinvar/384903 ^@ NM_182916.2(TRNT1):c.-28+10C>G http://identifiers.org/clinvar/384953 ^@ NM_005051.2(QARS):c.2064G>A (p.Glu688=) http://identifiers.org/clinvar/385003 ^@ NM_000045.3(ARG1):c.621A>C (p.Gly207=) http://identifiers.org/clinvar/386892 ^@ NM_002291.2(LAMB1):c.3650G>T (p.Arg1217Leu) http://identifiers.org/clinvar/384302 ^@ NM_002291.2(LAMB1):c.1985+12G>A http://identifiers.org/clinvar/386842 ^@ NM_016599.4(MYOZ2):c.157C>G (p.Arg53Gly) http://identifiers.org/clinvar/381458 ^@ NM_001167734.1(VARS2):c.1760C>A (p.Ala587Asp) http://identifiers.org/clinvar/385203 ^@ NM_001204824.1(KCNQ3):c.429G>A (p.Thr143=) http://identifiers.org/clinvar/378865 ^@ NM_005431.1(XRCC2):c.678T>C (p.Tyr226=) http://identifiers.org/clinvar/384653 ^@ NM_170606.2(KMT2C):c.13117C>T (p.Pro4373Ser) http://identifiers.org/clinvar/379515 ^@ NM_005431.1(XRCC2):c.300A>G (p.Leu100=) http://identifiers.org/clinvar/393080 ^@ NM_003496.3(TRRAP):c.3749C>T (p.Thr1250Ile) http://identifiers.org/clinvar/381108 ^@ NM_000806.5(GABRA1):c.87G>A (p.Pro29=) http://identifiers.org/clinvar/378663 ^@ NM_001130438.2(SPTAN1):c.6576+12G>A http://identifiers.org/clinvar/381809 ^@ NM_006059.3(LAMC3):c.-39G>A http://identifiers.org/clinvar/381608 ^@ NM_002485.4(NBN):c.1124+12T>C http://identifiers.org/clinvar/387792 ^@ NM_014846.3(WASHC5):c.18C>T (p.Ala6=) http://identifiers.org/clinvar/390991 ^@ NM_000445.4(PLEC):c.9794C>T (p.Pro3265Leu) http://identifiers.org/clinvar/385253 ^@ NM_000445.4(PLEC):c.5733C>T (p.Ala1911=) http://identifiers.org/clinvar/379916 ^@ NM_002316.3(LMX1B):c.226T>G (p.Trp76Gly) http://identifiers.org/clinvar/390741 ^@ NM_017617.4(NOTCH1):c.3172-12A>G http://identifiers.org/clinvar/385303 ^@ NM_020732.3(ARID1B):c.971G>C (p.Gly324Ala) http://identifiers.org/clinvar/381358 ^@ NM_001130438.2(SPTAN1):c.1667A>G (p.Asn556Ser) http://identifiers.org/clinvar/385053 ^@ NM_001130438.2(SPTAN1):c.5468C>T (p.Pro1823Leu) http://identifiers.org/clinvar/386992 ^@ NM_000264.3(PTCH1):c.1503+19A>T http://identifiers.org/clinvar/133698 ^@ NM_000057.3(BLM):c.2371C>T (p.Arg791Cys) http://identifiers.org/clinvar/134595 ^@ NM_001291415.1(KDM6A):c.815A>G (p.Tyr272Cys) http://identifiers.org/clinvar/134646 ^@ NM_001127500.2(MET):c.103A>T (p.Met35Leu) http://identifiers.org/clinvar/134697 ^@ NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) http://identifiers.org/clinvar/135002 ^@ NM_016734.2(PAX5):c.857C>T (p.Pro286Leu) http://identifiers.org/clinvar/135052 ^@ NM_000534.4(PMS1):c.1001C>T (p.Thr334Met) http://identifiers.org/clinvar/135103 ^@ NM_000264.3(PTCH1):c.3940C>T (p.Pro1314Ser) http://identifiers.org/clinvar/135154 ^@ NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) http://identifiers.org/clinvar/135832 ^@ NM_000179.2(MSH6):c.178T>C (p.Leu60=) http://identifiers.org/clinvar/135882 ^@ NM_000264.3(PTCH1):c.2560+8G>A http://identifiers.org/clinvar/135932 ^@ NM_000535.6(PMS2):c.1128A>C (p.Pro376=) http://identifiers.org/clinvar/135984 ^@ NM_001128425.1(MUTYH):c.1316T>C (p.Leu439Pro) http://identifiers.org/clinvar/136034 ^@ NM_002485.4(NBN):c.104T>C (p.Ile35Thr) http://identifiers.org/clinvar/136085 ^@ NM_007294.3(BRCA1):c.3747C>T (p.Thr1249=) http://identifiers.org/clinvar/136135 ^@ NM_024675.3(PALB2):c.2607C>T (p.Ser869=) http://identifiers.org/clinvar/136195 ^@ NM_130838.1(UBE3A):c.547delG (p.Asp183Thrfs) http://identifiers.org/clinvar/136246 ^@ NM_004299.4(ABCB7):c.1743A>G (p.Ala581=) http://identifiers.org/clinvar/136297 ^@ NM_020247.4(COQ8A):c.255T>G (p.His85Gln) http://identifiers.org/clinvar/136348 ^@ NM_005751.4(AKAP9):c.1536C>T (p.Leu512=) http://identifiers.org/clinvar/136399 ^@ NM_001148.4(ANK2):c.11860-18T>G http://identifiers.org/clinvar/187678 ^@ NM_032043.2(BRIP1):c.3711T>C (p.Ser1237=) http://identifiers.org/clinvar/184427 ^@ NM_000455.4(STK11):c.441T>C (p.Arg147=) http://identifiers.org/clinvar/187782 ^@ NM_030813.5(CLPB):c.1772C>T (p.Ala591Val) http://identifiers.org/clinvar/187859 ^@ NM_004092.3(ECHS1):c.473C>A (p.Ala158Asp) http://identifiers.org/clinvar/188268 ^@ NM_020975.4(RET):c.1118C>T (p.Ala373Val) http://identifiers.org/clinvar/188214 ^@ NM_004329.2(BMPR1A):c.66A>C (p.Gln22His) http://identifiers.org/clinvar/188373 ^@ NM_139241.3(FGD4):c.2149G>A (p.Val717Met) http://identifiers.org/clinvar/188320 ^@ NM_000059.3(BRCA2):c.3346A>G (p.Thr1116Ala) http://identifiers.org/clinvar/188163 ^@ NM_024675.3(PALB2):c.2835-1G>A http://identifiers.org/clinvar/188681 ^@ NM_001001430.2(TNNT2):c.170-29C>G http://identifiers.org/clinvar/188581 ^@ NM_000256.3(MYBPC3):c.3373G>T (p.Val1125Leu) http://identifiers.org/clinvar/188531 ^@ NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) http://identifiers.org/clinvar/188431 ^@ NM_000059.3(BRCA2):c.5465A>G (p.Asn1822Ser) http://identifiers.org/clinvar/188631 ^@ NM_000257.3(MYH7):c.3972+16G>A http://identifiers.org/clinvar/188481 ^@ NM_000152.4(GAA):c.1495T>A (p.Trp499Arg) http://identifiers.org/clinvar/188731 ^@ NM_004543.4(NEB):c.2784delT (p.Asp929Ilefs) http://identifiers.org/clinvar/188982 ^@ NM_006261.4(PROP1):c.334C>T (p.Arg112Ter) http://identifiers.org/clinvar/188882 ^@ NM_005476.5(GNE):c.1760T>C (p.Ile587Thr) http://identifiers.org/clinvar/189083 ^@ NM_033056.3(PCDH15):c.3717+1G>A http://identifiers.org/clinvar/189183 ^@ NM_004004.5(GJB2):c.596C>T (p.Ser199Phe) http://identifiers.org/clinvar/188781 ^@ NM_000053.3(ATP7B):c.3008C>T (p.Ala1003Val) http://identifiers.org/clinvar/188831 ^@ NM_000053.3(ATP7B):c.2975C>T (p.Pro992Leu) http://identifiers.org/clinvar/188932 ^@ NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) http://identifiers.org/clinvar/189033 ^@ NM_000271.4(NPC1):c.2764C>T (p.Gln922Ter) http://identifiers.org/clinvar/189133 ^@ NM_000500.7:c.*28699001G>T http://identifiers.org/clinvar/189250 ^@ NM_206933.2(USH2A):c.1214delA (p.Asn405Ilefs) http://identifiers.org/clinvar/189303 ^@ NM_000384.2(APOB):c.5654A>G (p.Tyr1885Cys) http://identifiers.org/clinvar/189377 ^@ NM_007374.2(SIX6):c.532_536delAACCG (p.Asn178Profs) http://identifiers.org/clinvar/189523 ^@ NM_000314.6(PTEN):c.-956G>C http://identifiers.org/clinvar/189451 ^@ NM_000314.6(PTEN):c.758_761delTCAA (p.Ile253Lysfs) http://identifiers.org/clinvar/189623 ^@ NM_005249.4(FOXG1):c.681C>G (p.Asn227Lys) http://identifiers.org/clinvar/189673 ^@ NM_001110792.1(MECP2):c.1374_1379delCGCAGA (p.Ala459_Glu460del) http://identifiers.org/clinvar/189723 ^@ NM_004992.3(MECP2):c.820_1153del334ins67 (p.?) http://identifiers.org/clinvar/189773 ^@ NM_001110792.1(MECP2):c.48C>T (p.Gly16=) http://identifiers.org/clinvar/189573 ^@ NM_003159.2(CDKL5):c.2494C>T (p.Gln832Ter) http://identifiers.org/clinvar/228688 ^@ NM_001458.4(FLNC):c.1471G>C (p.Val491Leu) http://identifiers.org/clinvar/226616 ^@ NM_014908.3(DOLK):c.1450A>G (p.Ile484Val) http://identifiers.org/clinvar/228388 ^@ NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del (p.(?)) http://identifiers.org/clinvar/229188 ^@ NM_001134363.2(RBM20):c.-16G>T http://identifiers.org/clinvar/228988 ^@ NM_017433.4(MYO3A):c.823C>T (p.Arg275Cys) http://identifiers.org/clinvar/229138 ^@ NM_033056.3(PCDH15):c.4599_4602dupAAGT (p.Gln1535Lysfs) http://identifiers.org/clinvar/229038 ^@ NM_032578.3(MYPN):c.785A>G (p.Glu262Gly) http://identifiers.org/clinvar/228488 ^@ NM_022124.5(CDH23):c.2876C>T (p.Ala959Val) http://identifiers.org/clinvar/229288 ^@ NM_005422.2(TECTA):c.1129T>C (p.Trp377Arg) http://identifiers.org/clinvar/227988 ^@ NM_005422.2(TECTA):c.2123A>G (p.Lys708Arg) http://identifiers.org/clinvar/229088 ^@ NM_001277269.1(OTOG):c.3719C>T (p.Pro1240Leu) http://identifiers.org/clinvar/228838 ^@ NM_001145307.4(LRTOMT):c.115C>T (p.Arg39Ter) http://identifiers.org/clinvar/229238 ^@ NM_001038.5(SCNN1A):c.1216C>A (p.Leu406Ile) http://identifiers.org/clinvar/227587 ^@ NM_002471.3(MYH6):c.3342+10T>C http://identifiers.org/clinvar/228888 ^@ NM_002471.3(MYH6):c.1628A>G (p.Lys543Arg) http://identifiers.org/clinvar/226516 ^@ NM_006383.3(CIB2):c.393G>A (p.Thr131=) http://identifiers.org/clinvar/227507 ^@ NM_001145472.2(LOXHD1):c.1764C>T (p.Asp588=) http://identifiers.org/clinvar/228938 ^@ NM_033118.3(MYLK2):c.1669C>G (p.Gln557Glu) http://identifiers.org/clinvar/227457 ^@ NM_000219.5(KCNE1):c.297C>G (p.Val99=) http://identifiers.org/clinvar/228038 ^@ NM_001039141.2(TRIOBP):c.5782A>G (p.Ile1928Val) http://identifiers.org/clinvar/228788 ^@ NM_013995.2(LAMP2):c.1222C>G (p.Gln408Glu) http://identifiers.org/clinvar/228588 ^@ NM_004006.2(DMD):c.4175A>G (p.Gln1392Arg) http://identifiers.org/clinvar/227307 ^@ NM_004006.2(DMD):c.2569C>T (p.Pro857Ser) http://identifiers.org/clinvar/226566 ^@ NM_004006.2(DMD):c.1718C>T (p.Ala573Val) http://identifiers.org/clinvar/228338 ^@ NM_001399.4(EDA):c.659_676del18 (p.Pro220_Pro225del) http://identifiers.org/clinvar/234292 ^@ NM_004895.4(NLRP3):c.2494C>A (p.Leu832Ile) http://identifiers.org/clinvar/234413 ^@ NM_002977.3(SCN9A):c.5528G>A (p.Gly1843Glu) http://identifiers.org/clinvar/234716 ^@ NM_004321.7(KIF1A):c.512A>C (p.His171Pro) http://identifiers.org/clinvar/234464 ^@ NM_000179.2(MSH6):c.1645delT (p.Ser549Leufs) http://identifiers.org/clinvar/234666 ^@ NM_000249.3(MLH1):c.2089C>G (p.Leu697Val) http://identifiers.org/clinvar/234867 ^@ NM_000314.6(PTEN):c.-1142C>A http://identifiers.org/clinvar/234917 ^@ NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) http://identifiers.org/clinvar/234566 ^@ NM_000059.3(BRCA2):c.2405A>G (p.Asn802Ser) http://identifiers.org/clinvar/234344 ^@ NM_014646.2(LPIN2):c.2650C>T (p.Arg884Ter) http://identifiers.org/clinvar/234616 ^@ NM_000214.2(JAG1):c.2705G>C (p.Cys902Ser) http://identifiers.org/clinvar/234515 ^@ NM_007194.3(CHEK2):c.371G>T (p.Cys124Phe) http://identifiers.org/clinvar/233982 ^@ NM_001128425.1(MUTYH):c.1471A>T (p.Lys491Ter) http://identifiers.org/clinvar/231029 ^@ NM_001128425.1(MUTYH):c.244T>C (p.Ser82Pro) http://identifiers.org/clinvar/231229 ^@ NM_000465.3(BARD1):c.2263G>A (p.Val755Ile) http://identifiers.org/clinvar/230879 ^@ NM_000465.3(BARD1):c.1564G>T (p.Ala522Ser) http://identifiers.org/clinvar/231379 ^@ NM_000251.2(MSH2):c.-68-64G>A http://identifiers.org/clinvar/233932 ^@ NM_000251.2(MSH2):c.2386A>T (p.Thr796Ser) http://identifiers.org/clinvar/230929 ^@ NM_000179.2(MSH6):c.2212_2222delGTGACATTAAA (p.Val738Glnfs) http://identifiers.org/clinvar/231129 ^@ NM_000179.2(MSH6):c.2850C>T (p.Ser950=) http://identifiers.org/clinvar/231279 ^@ NM_000249.3(MLH1):c.1746delC (p.Phe583Leufs) http://identifiers.org/clinvar/231179 ^@ NM_000038.5(APC):c.2194A>G (p.Asn732Asp) http://identifiers.org/clinvar/265940 ^@ NM_174936.3(PCSK9):c.1180+22T>C http://identifiers.org/clinvar/265995 ^@ NM_178857.5(RP1L1):c.328C>T (p.Pro110Ser) http://identifiers.org/clinvar/266622 ^@ NM_000059.3(BRCA2):c.127_128delAA (p.Asn43Phefs) http://identifiers.org/clinvar/266672 ^@ NM_000059.3(BRCA2):c.201_202dupGA (p.Lys68Argfs) http://identifiers.org/clinvar/266722 ^@ NM_000059.3(BRCA2):c.2781_2785delGGTTT (p.Met927Ilefs) http://identifiers.org/clinvar/266772 ^@ NM_000059.3(BRCA2):c.3779dupT (p.Leu1260Phefs) http://identifiers.org/clinvar/266822 ^@ NM_000059.3(BRCA2):c.4625delT (p.Val1542Glyfs) http://identifiers.org/clinvar/266872 ^@ NM_000059.3(BRCA2):c.5338dupG (p.Glu1780Glyfs) http://identifiers.org/clinvar/266922 ^@ NM_000059.3(BRCA2):c.6085_6089delGAAAA (p.Glu2029Tyrfs) http://identifiers.org/clinvar/266972 ^@ NM_000059.3(BRCA2):c.6722_6723dupCA (p.Asp2242Glnfs) http://identifiers.org/clinvar/267022 ^@ NM_000059.3(BRCA2):c.7565_7568delCTCT (p.Ser2522Terfs) http://identifiers.org/clinvar/267072 ^@ NM_000059.3(BRCA2):c.8329A>T (p.Lys2777Ter) http://identifiers.org/clinvar/267122 ^@ NM_000059.3(BRCA2):c.8947dupG (p.Asp2983Glyfs) http://identifiers.org/clinvar/267172 ^@ NM_000059.3(BRCA2):c.9789_9790delGA (p.Asn3264Leufs) http://identifiers.org/clinvar/266522 ^@ NM_007294.3(BRCA1):c.5076delT (p.Asp1692Glufs) http://identifiers.org/clinvar/266472 ^@ NM_007294.3(BRCA1):c.4364T>G (p.Leu1455Ter) http://identifiers.org/clinvar/266572 ^@ NM_007294.3(BRCA1):c.71_72delGT (p.Cys24Serfs) http://identifiers.org/clinvar/267242 ^@ NM_015247.2(CYLD):c.1950-5_1950-2delCTTA http://identifiers.org/clinvar/267317 ^@ NM_022162.2(NOD2):c.2446G>A http://identifiers.org/clinvar/267390 ^@ c.5390+2T>C http://identifiers.org/clinvar/267443 ^@ NM_006494.3(ERF):c.266A>G (p.Tyr89Cys) http://identifiers.org/clinvar/267629 ^@ NM_000059.3(BRCA2):c.-227-?_425+?del http://identifiers.org/clinvar/267679 ^@ NM_000059.3(BRCA2):c.7436-?_7805+?del http://identifiers.org/clinvar/267579 ^@ NM_007294.3(BRCA1):c.5193+2T>G http://identifiers.org/clinvar/267529 ^@ NM_007294.3(BRCA1):c.4186-1643_4357+2020del http://identifiers.org/clinvar/267729 ^@ NM_007294.3(BRCA1):c.4987-577_5074+343del http://identifiers.org/clinvar/267808 ^@ 46;XY;t(4;14)(p15.32;q32.1)dn http://identifiers.org/clinvar/267859 ^@ 46;XX;t(17;18)(p13;p11.2)dn http://identifiers.org/clinvar/267909 ^@ 46;XX;t(6;7;17)(p23;p22;q25)pat http://identifiers.org/clinvar/267959 ^@ 46;XY;t(1;14)(p36.22;q22.1) http://identifiers.org/clinvar/268009 ^@ 46;X;t(X;3)(p21.3;p25.1)dn http://identifiers.org/clinvar/268062 ^@ NC_000012.11:g.(?_129802877)_(130479794_?)dup http://identifiers.org/clinvar/291151 ^@ NM_001080522.2(CC2D2A):c.3072G>A (p.Arg1024=) http://identifiers.org/clinvar/291202 ^@ NM_000288.3(PEX7):c.339+10A>G http://identifiers.org/clinvar/291252 ^@ NM_018849.2(ABCB4):c.1529A>G (p.Asn510Ser) http://identifiers.org/clinvar/291315 ^@ NM_000540.2(RYR1):c.1597C>A (p.Arg533Ser) http://identifiers.org/clinvar/291417 ^@ NM_001918.3(DBT):c.*4124C>A http://identifiers.org/clinvar/291467 ^@ NM_015074.3(KIF1B):c.315T>C (p.Tyr105=) http://identifiers.org/clinvar/291517 ^@ NM_001854.3(COL11A1):c.3358G>A (p.Gly1120Ser) http://identifiers.org/clinvar/291609 ^@ NM_015074.3(KIF1B):c.*1363dupA http://identifiers.org/clinvar/291567 ^@ NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) http://identifiers.org/clinvar/291759 ^@ NM_007375.3(TARDBP):c.*2029C>T http://identifiers.org/clinvar/292009 ^@ NM_138959.2(VANGL1):c.812+9C>T http://identifiers.org/clinvar/292059 ^@ NM_138959.2(VANGL1):c.*2865A>G http://identifiers.org/clinvar/291909 ^@ NM_013319.2(UBIAD1):c.*2115C>G http://identifiers.org/clinvar/291709 ^@ NM_013296.4(GPSM2):c.1910G>A (p.Arg637Gln) http://identifiers.org/clinvar/291859 ^@ NM_003051.3(SLC16A1):c.1117G>A (p.Val373Ile) http://identifiers.org/clinvar/291959 ^@ NM_002524.4(NRAS):c.*2464A>G http://identifiers.org/clinvar/291809 ^@ NM_006610.3(MASP2):c.234+13C>T http://identifiers.org/clinvar/292209 ^@ NM_005957.4(MTHFR):c.*1290T>C http://identifiers.org/clinvar/292359 ^@ NM_000302.3(PLOD1):c.*440G>C http://identifiers.org/clinvar/292109 ^@ NM_138959.2(VANGL1):c.*6474T>G http://identifiers.org/clinvar/292759 ^@ NM_001111.4(ADAR):c.3519C>T (p.Tyr1173=) http://identifiers.org/clinvar/292509 ^@ NM_004698.2(PRPF3):c.*145_*151delTCCCCTC http://identifiers.org/clinvar/292159 ^@ NM_005957.4(MTHFR):c.*4421T>C http://identifiers.org/clinvar/293009 ^@ NM_003126.2(SPTA1):c.2654G>A (p.Arg885His) http://identifiers.org/clinvar/292259 ^@ NM_000198.3(HSD3B2):c.423C>T (p.His141=) http://identifiers.org/clinvar/292309 ^@ NM_006623.3(PHGDH):c.381G>A (p.Ser127=) http://identifiers.org/clinvar/292409 ^@ NM_014874.3(MFN2):c.*1576C>T http://identifiers.org/clinvar/292459 ^@ NM_005266.6(GJA5):c.-108G>A http://identifiers.org/clinvar/293109 ^@ NM_002241.4(KCNJ10):c.*734C>T http://identifiers.org/clinvar/293509 ^@ NM_006996.2(SLC19A2):c.*1543_*1546delCTGT http://identifiers.org/clinvar/293159 ^@ NM_000702.3(ATP1A2):c.*1000T>G http://identifiers.org/clinvar/292559 ^@ NM_019032.5(ADAMTSL4):c.2795G>A (p.Arg932His) http://identifiers.org/clinvar/292659 ^@ NM_152263.3(TPM3):c.*2597G>T http://identifiers.org/clinvar/292609 ^@ NM_000449.3(RFX5):c.1661_1663delCAG (p.Ala554del) http://identifiers.org/clinvar/292709 ^@ NM_006118.3(HAX1):c.*47A>G http://identifiers.org/clinvar/292909 ^@ NM_007272.2(CTRC):c.216C>T (p.Ala72=) http://identifiers.org/clinvar/293559 ^@ NM_000130.4(F5):c.*598T>G http://identifiers.org/clinvar/292859 ^@ NM_022367.3(SEMA4A):c.2251G>A (p.Ala751Thr) http://identifiers.org/clinvar/292809 ^@ NM_000298.5(PKLR):c.965+12G>A http://identifiers.org/clinvar/292959 ^@ NM_003126.2(SPTA1):c.5911G>A (p.Asp1971Asn) http://identifiers.org/clinvar/293059 ^@ NM_003126.2(SPTA1):c.174C>T (p.Phe58=) http://identifiers.org/clinvar/293459 ^@ NM_005149.2(TBX19):c.536G>A (p.Arg179Gln) http://identifiers.org/clinvar/294498 ^@ NM_000186.3(CFH):c.2016A>G (p.Gln672=) http://identifiers.org/clinvar/293609 ^@ NM_000130.4(F5):c.3402C>A (p.Asp1134Glu) http://identifiers.org/clinvar/294698 ^@ NM_000069.2(CACNA1S):c.*260T>A http://identifiers.org/clinvar/294798 ^@ NM_001005337.2(PKP1):c.-86C>A http://identifiers.org/clinvar/294998 ^@ NM_032409.2(PINK1):c.165G>A (p.Glu55=) http://identifiers.org/clinvar/335904 ^@ NM_001011.3(RPS7):c.292-9A>T http://identifiers.org/clinvar/335954 ^@ NM_000104.3(CYP1B1):c.763C>T (p.Arg255Cys) http://identifiers.org/clinvar/343740 ^@ NM_000096.3(CP):c.*828dupA http://identifiers.org/clinvar/343790 ^@ NM_000096.3(CP):c.125A>G (p.Lys42Arg) http://identifiers.org/clinvar/343840 ^@ NM_005677.3(COLQ):c.*344C>T http://identifiers.org/clinvar/344240 ^@ NM_181426.1(CCDC39):c.*575T>C http://identifiers.org/clinvar/337021 ^@ NM_015120.4(ALMS1):c.6461A>G (p.Gln2154Arg) http://identifiers.org/clinvar/345729 ^@ NM_002222.5(ITPR1):c.3576G>A (p.Arg1192=) http://identifiers.org/clinvar/337271 ^@ NM_000821.6(GGCX):c.726-4G>T http://identifiers.org/clinvar/337321 ^@ NM_003896.3(ST3GAL5):c.*609G>C http://identifiers.org/clinvar/345879 ^@ NM_000094.3(COL7A1):c.923T>C (p.Ile308Thr) http://identifiers.org/clinvar/346079 ^@ NM_153281.1(HYAL1):c.*434C>T http://identifiers.org/clinvar/337371 ^@ NM_022912.2(REEP1):c.*1476G>T http://identifiers.org/clinvar/346229 ^@ NM_003392.4(WNT5A):c.*2728_*2730delGAA http://identifiers.org/clinvar/346479 ^@ NM_198859.3(PRICKLE2):c.-13C>G http://identifiers.org/clinvar/346629 ^@ NM_032682.5(FOXP1):c.*510_*511delGC http://identifiers.org/clinvar/346729 ^@ NM_002942.4(ROBO2):c.*1061C>T http://identifiers.org/clinvar/346829 ^@ NM_001122757.2(POU1F1):c.*213A= http://identifiers.org/clinvar/346029 ^@ NM_000481.3(AMT):c.961G>A (p.Val321Met) http://identifiers.org/clinvar/346129 ^@ NM_003280.2(TNNC1):c.*83A>C http://identifiers.org/clinvar/342990 ^@ NM_000373.3(UMPS):c.*2901G>C http://identifiers.org/clinvar/343090 ^@ NM_025265.3(TSEN2):c.*475C>T http://identifiers.org/clinvar/343040 ^@ NM_000373.3(UMPS):c.*4883C>T http://identifiers.org/clinvar/347818 ^@ NM_021871.3(FGA):c.616C>G (p.Gln206Glu) http://identifiers.org/clinvar/347868 ^@ NM_004744.4(LRAT):c.*2190C>T http://identifiers.org/clinvar/343190 ^@ NM_014049.4(ACAD9):c.41C>T (p.Ala14Val) http://identifiers.org/clinvar/343490 ^@ NM_020191.2(MRPS22):c.799T>C (p.Tyr267His) http://identifiers.org/clinvar/346529 ^@ NM_000248.3(MITF):c.*1934G>T http://identifiers.org/clinvar/343340 ^@ NM_014382.3(ATP2C1):c.*881A>G http://identifiers.org/clinvar/343590 ^@ NM_004628.4(XPC):c.-58C>T http://identifiers.org/clinvar/343390 ^@ NM_153240.4(NPHP3):c.913A>G (p.Ile305Val) http://identifiers.org/clinvar/343690 ^@ NM_032383.4(HPS3):c.158A>G (p.Gln53Arg) http://identifiers.org/clinvar/343890 ^@ NM_004733.3(SLC33A1):c.-343G>A http://identifiers.org/clinvar/353906 ^@ NM_001104631.1(PDE4D):c.*5545C>A http://identifiers.org/clinvar/354006 ^@ NM_000082.3(ERCC8):c.*519C>A http://identifiers.org/clinvar/354106 ^@ NM_022132.4(MCCC2):c.*247C>T http://identifiers.org/clinvar/362044 ^@ NM_006096.3(NDRG1):c.-64G>A http://identifiers.org/clinvar/362194 ^@ NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) http://identifiers.org/clinvar/354206 ^@ NM_003719.3(PDE8B):c.*1128A>G http://identifiers.org/clinvar/362244 ^@ NM_130849.3(SLC39A4):c.1002G>A (p.Thr334=) http://identifiers.org/clinvar/358485 ^@ NM_006348.3(COG5):c.-291C>T http://identifiers.org/clinvar/354406 ^@ NM_004385.4(VCAN):c.2378T>C (p.Leu793Ser) http://identifiers.org/clinvar/354456 ^@ NM_004385.4(VCAN):c.8272G>T (p.Gly2758Cys) http://identifiers.org/clinvar/358735 ^@ NM_000492.3(CFTR):c.3969G>A (p.Gly1323=) http://identifiers.org/clinvar/354356 ^@ NM_002454.2(MTRR):c.739C>T (p.Pro247Ser) http://identifiers.org/clinvar/358985 ^@ NM_005989.3(AKR1D1):c.*1214A>G http://identifiers.org/clinvar/362744 ^@ NM_001017420.2(ESCO2):c.1647T>C (p.Ile549=) http://identifiers.org/clinvar/354606 ^@ NM_002397.4(MEF2C):c.-525T>C http://identifiers.org/clinvar/354506 ^@ NM_002890.2(RASA1):c.248G>A (p.Gly83Glu) http://identifiers.org/clinvar/362794 ^@ NM_000553.4(WRN):c.-37A>G http://identifiers.org/clinvar/354656 ^@ NM_000439.4(PCSK1):c.-101T>C http://identifiers.org/clinvar/359035 ^@ NM_020632.2(ATP6V0A4):c.-136C>T http://identifiers.org/clinvar/354856 ^@ NM_007214.4(SEC63):c.*1932_*1933insA http://identifiers.org/clinvar/355107 ^@ NM_000493.3(COL10A1):c.382G>A (p.Asp128Asn) http://identifiers.org/clinvar/364283 ^@ NM_001701.3(BAAT):c.-59-14C>A http://identifiers.org/clinvar/355796 ^@ NM_033071.3(SYNE1):c.*583A>G http://identifiers.org/clinvar/364383 ^@ NM_005502.3(ABCA1):c.5870A>C (p.Lys1957Thr) http://identifiers.org/clinvar/356046 ^@ NM_003730.4(RNASET2):c.-176C>T http://identifiers.org/clinvar/355846 ^@ NM_033071.3(SYNE1):c.18563T>C (p.Leu6188Pro) http://identifiers.org/clinvar/364883 ^@ NM_002316.3(LMX1B):c.741+14G>A http://identifiers.org/clinvar/355896 ^@ NM_033071.3(SYNE1):c.9828+5C>T http://identifiers.org/clinvar/365133 ^@ NM_001003722.1(GLE1):c.433-15A>C http://identifiers.org/clinvar/356496 ^@ NM_182548.3(LHFPL5):c.*345G>A http://identifiers.org/clinvar/365233 ^@ NM_000113.2(TOR1A):c.300G>A (p.Leu100=) http://identifiers.org/clinvar/356546 ^@ NM_182548.3(LHFPL5):c.*672dupG http://identifiers.org/clinvar/356646 ^@ NM_005943.5(MOCS1):c.*270C>T http://identifiers.org/clinvar/365583 ^@ NM_014694.3(ADAMTSL2):c.859A>C (p.Arg287=) http://identifiers.org/clinvar/356846 ^@ NM_014780.4(CUL7):c.1716C>G (p.Ala572=) http://identifiers.org/clinvar/356896 ^@ NM_006502.2(POLH):c.-62C>T http://identifiers.org/clinvar/356696 ^@ NM_000409.4(GUCA1A):c.*345G>A http://identifiers.org/clinvar/356796 ^@ NM_000287.3(PEX6):c.1387A>G (p.Thr463Ala) http://identifiers.org/clinvar/356996 ^@ NM_006502.2(POLH):c.*4414delG http://identifiers.org/clinvar/361694 ^@ NM_002546.3(TNFRSF11B):c.234C>T (p.Asp78=) http://identifiers.org/clinvar/361844 ^@ NM_004519.3(KCNQ3):c.*2013C>T http://identifiers.org/clinvar/366773 ^@ NM_003289.3(TPM2):c.-92C>T http://identifiers.org/clinvar/366823 ^@ NM_005476.5(GNE):c.*1021A>G http://identifiers.org/clinvar/303425 ^@ NM_016952.4(CDON):c.*2376_*2377insCACATATATA http://identifiers.org/clinvar/366923 ^@ NM_001042413.1(GLIS3):c.*2001_*2002delCT http://identifiers.org/clinvar/303575 ^@ NM_000220.4(KCNJ1):c.102G>A (p.Gly34=) http://identifiers.org/clinvar/366973 ^@ NM_203447.3(DOCK8):c.3270T>C (p.Ile1090=) http://identifiers.org/clinvar/303725 ^@ NM_000525.3(KCNJ11):c.*288G>A http://identifiers.org/clinvar/367023 ^@ NM_203447.3(DOCK8):c.5223+4A>G http://identifiers.org/clinvar/367073 ^@ NM_004170.5(SLC1A1):c.*667_*672dupATATAT http://identifiers.org/clinvar/367223 ^@ NM_004817.3(TJP2):c.1671+18_1671+19delCT http://identifiers.org/clinvar/367402 ^@ NM_033305.2(VPS13A):c.6492T>C (p.Asp2164=) http://identifiers.org/clinvar/304075 ^@ NM_000360.3(TH):c.841+12C>T http://identifiers.org/clinvar/304175 ^@ NM_022725.3(FANCF):c.*1632G>C http://identifiers.org/clinvar/305166 ^@ NM_000327.3(ROM1):c.669G>C (p.Arg223=) http://identifiers.org/clinvar/305416 ^@ NM_053054.3(CATSPER1):c.2126-13T>C http://identifiers.org/clinvar/314412 ^@ NM_017791.2(FLVCR2):c.421G>A (p.Val141Met) http://identifiers.org/clinvar/305516 ^@ NM_000391.3(TPP1):c.-33C>G http://identifiers.org/clinvar/305466 ^@ NM_024649.4(BBS1):c.1110+15C>T http://identifiers.org/clinvar/305716 ^@ NM_145200.3(CABP4):c.*2679A>G http://identifiers.org/clinvar/305766 ^@ NM_002496.3(NDUFS8):c.200-14C>T http://identifiers.org/clinvar/314962 ^@ NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) http://identifiers.org/clinvar/315112 ^@ NM_177438.2(DICER1):c.897G>A (p.Ser299=) http://identifiers.org/clinvar/315462 ^@ NM_000275.2(OCA2):c.2080G>A (p.Ala694Thr) http://identifiers.org/clinvar/315562 ^@ NM_133647.1(SLC12A6):c.*2731G>A http://identifiers.org/clinvar/315662 ^@ NM_005159.4(ACTC1):c.*1219C>T http://identifiers.org/clinvar/306480 ^@ NM_005591.3(MRE11):c.*659_*660insTCTCTCTCTCTCTCCC http://identifiers.org/clinvar/306530 ^@ NM_016156.5(MTMR2):c.*190G>A http://identifiers.org/clinvar/315212 ^@ NM_139057.3(ADAMTS17):c.*850C>T http://identifiers.org/clinvar/329574 ^@ NM_025136.3(OPA3):c.*6012A>G http://identifiers.org/clinvar/318104 ^@ NM_001143979.1(NDE1):c.948-3986G>A http://identifiers.org/clinvar/329924 ^@ NM_024729.3(MYH14):c.2741G>A (p.Arg914Gln) http://identifiers.org/clinvar/330424 ^@ NM_000208.3(INSR):c.*394delT http://identifiers.org/clinvar/310608 ^@ NM_025114.3(CEP290):c.3309+3_3309+4dupTT http://identifiers.org/clinvar/330474 ^@ NM_000208.3(INSR):c.909G>A (p.Gln303=) http://identifiers.org/clinvar/319143 ^@ NM_032444.2(SLX4):c.5418C>G (p.Ile1806Met) http://identifiers.org/clinvar/319293 ^@ NM_018206.5(VPS35):c.1035G>A (p.Glu345=) http://identifiers.org/clinvar/319393 ^@ NM_024589.2(ROGDI):c.*347G>T http://identifiers.org/clinvar/319494 ^@ NM_015247.2(CYLD):c.-366G>C http://identifiers.org/clinvar/319594 ^@ NM_002968.2(SALL1):c.*45C>A http://identifiers.org/clinvar/319744 ^@ NM_004530.5(MMP2):c.-7C>A http://identifiers.org/clinvar/319894 ^@ NM_000339.2(SLC12A3):c.774C>T (p.Asn258=) http://identifiers.org/clinvar/338460 ^@ NM_000457.4(HNF4A):c.*1616G>A http://identifiers.org/clinvar/319944 ^@ NM_000339.2(SLC12A3):c.*975A>G http://identifiers.org/clinvar/338710 ^@ NM_006420.2(ARFGEF2):c.*134C>T http://identifiers.org/clinvar/338761 ^@ NM_020436.4(SALL4):c.*13G>A http://identifiers.org/clinvar/339111 ^@ NM_001001433.2(STX16):c.*3093A>G http://identifiers.org/clinvar/339211 ^@ NM_017671.4(FERMT1):c.1600G>A (p.Ala534Thr) http://identifiers.org/clinvar/339411 ^@ NM_025219.2(DNAJC5):c.*2725G>A http://identifiers.org/clinvar/339561 ^@ NM_000933.3(PLCB4):c.1364A>G (p.Lys455Arg) http://identifiers.org/clinvar/321033 ^@ NM_001127464.2(ZNF469):c.11738C>T (p.Thr3913Ile) http://identifiers.org/clinvar/321637 ^@ NM_002472.2(MYH8):c.3376G>C (p.Glu1126Gln) http://identifiers.org/clinvar/340400 ^@ NM_001849.3(COL6A2):c.*121C>A http://identifiers.org/clinvar/342151 ^@ NM_001953.4(TYMP):c.516+14C>T http://identifiers.org/clinvar/367752 ^@ NM_002294.2(LAMP2):c.*3031dupT http://identifiers.org/clinvar/328535 ^@ NM_000453.2(SLC5A5):c.357+5C>T http://identifiers.org/clinvar/368252 ^@ NM_004006.2(DMD):c.1249G>C (p.Glu417Gln) http://identifiers.org/clinvar/329324 ^@ NM_003573.2(LTBP4):c.3124dupG (p.Tyr1043Leufs) http://identifiers.org/clinvar/329624 ^@ NM_025136.3(OPA3):c.*3387G>A http://identifiers.org/clinvar/327785 ^@ NM_005786.5(TSHZ1):c.-200dupC http://identifiers.org/clinvar/329674 ^@ NM_025136.3(OPA3):c.*422C>T http://identifiers.org/clinvar/327885 ^@ NM_001130823.2(DNMT1):c.*18C>A http://identifiers.org/clinvar/327985 ^@ NM_001005360.2(DNM2):c.2031G>A (p.Lys677=) http://identifiers.org/clinvar/330024 ^@ NM_144687.3(NLRP12):c.2212A>C (p.Arg738=) http://identifiers.org/clinvar/328135 ^@ NM_000121.3(EPOR):c.*425C>T http://identifiers.org/clinvar/328385 ^@ NM_000435.2(NOTCH3):c.4444G>C (p.Gly1482Arg) http://identifiers.org/clinvar/330374 ^@ NM_000208.3(INSR):c.*3008_*3009delTG http://identifiers.org/clinvar/328435 ^@ NM_173483.3(CYP4F22):c.693C>T (p.Ser231=) http://identifiers.org/clinvar/330524 ^@ NM_006702.4(PNPLA6):c.1563C>T (p.Asp521=) http://identifiers.org/clinvar/328685 ^@ NM_001031726.3(C19orf12):c.*2310C>T http://identifiers.org/clinvar/338310 ^@ NM_000557.4(GDF5):c.*425T>C http://identifiers.org/clinvar/329424 ^@ NM_152296.4(ATP1A3):c.607-3C>T http://identifiers.org/clinvar/329524 ^@ NM_000400.3(ERCC2):c.740T>C (p.Met247Thr) http://identifiers.org/clinvar/329774 ^@ NM_000554.5(CRX):c.*2850G>A http://identifiers.org/clinvar/329824 ^@ NM_002103.4(GYS1):c.420A>G (p.Gly140=) http://identifiers.org/clinvar/339011 ^@ NM_004738.4(VAPB):c.*5789C>T http://identifiers.org/clinvar/339061 ^@ NM_001001433.2(STX16):c.*114C>T http://identifiers.org/clinvar/330124 ^@ NM_024075.4(TSEN34):c.95C>A (p.Thr32Lys) http://identifiers.org/clinvar/339361 ^@ NM_025219.2(DNAJC5):c.*135C>T http://identifiers.org/clinvar/339461 ^@ NM_012469.3(PRPF6):c.42C>T (p.Pro14=) http://identifiers.org/clinvar/330574 ^@ NM_030957.3(ADAMTS10):c.*81G>T http://identifiers.org/clinvar/338410 ^@ NM_005461.4(MAFB):c.399C>T (p.His133=) http://identifiers.org/clinvar/340500 ^@ NM_006031.5(PCNT):c.5402C>A (p.Ala1801Asp) http://identifiers.org/clinvar/338510 ^@ NM_000022.3(ADA):c.162G>A (p.Lys54=) http://identifiers.org/clinvar/338610 ^@ NM_030777.3(SLC2A10):c.*401C>A http://identifiers.org/clinvar/338660 ^@ NM_000311.4(PRNP):c.*407T>G http://identifiers.org/clinvar/338861 ^@ NM_144773.3(PROKR2):c.376G>A (p.Val126Met) http://identifiers.org/clinvar/340951 ^@ NM_004076.4(CRYBB3):c.174C>T (p.Ser58=) http://identifiers.org/clinvar/341001 ^@ NM_022081.5(HPS4):c.1747G>A (p.Glu583Lys) http://identifiers.org/clinvar/338961 ^@ NM_004738.4(VAPB):c.*2676A>G http://identifiers.org/clinvar/339161 ^@ NM_207034.2(EDN3):c.*1293T>C http://identifiers.org/clinvar/339261 ^@ NM_017671.4(FERMT1):c.-710G>T http://identifiers.org/clinvar/339311 ^@ NM_001853.3(COL9A3):c.2029G>A (p.Glu677Lys) http://identifiers.org/clinvar/339511 ^@ NM_015192.3(PLCB1):c.2570C>T (p.Thr857Met) http://identifiers.org/clinvar/341501 ^@ NM_002473.5(MYH9):c.4391G>A (p.Arg1464His) http://identifiers.org/clinvar/341651 ^@ NM_003560.2(PLA2G6):c.-15C>T http://identifiers.org/clinvar/387492 ^@ NM_001458.4(FLNC):c.851-5C>T http://identifiers.org/clinvar/378765 ^@ NM_000368.4(TSC1):c.738-10C>A http://identifiers.org/clinvar/384703 ^@ NM_017617.4(NOTCH1):c.2265T>C (p.Asn755=) http://identifiers.org/clinvar/387842 ^@ NM_016042.3(EXOSC3):c.24G>T (p.Ala8=) http://identifiers.org/clinvar/384603 ^@ NM_020822.2(KCNT1):c.732G>A (p.Leu244=) http://identifiers.org/clinvar/384152 ^@ NM_020822.2(KCNT1):c.3561C>T (p.Asp1187=) http://identifiers.org/clinvar/392930 ^@ NM_017617.4(NOTCH1):c.3902-4C>T http://identifiers.org/clinvar/379165 ^@ NM_000077.4(CDKN2A):c.151-13T>C http://identifiers.org/clinvar/385403 ^@ NM_001382.3(DPAGT1):c.573C>T (p.Asn191=) http://identifiers.org/clinvar/392830 ^@ NM_005188.3(CBL):c.627A>G (p.Leu209=) http://identifiers.org/clinvar/384853 ^@ NM_000443.3(ABCB4):c.2619T>G (p.Val873=) http://identifiers.org/clinvar/391741 ^@ NM_000445.4(PLEC):c.2259+10G>A http://identifiers.org/clinvar/380958 ^@ NM_000051.3(ATM):c.-30-19A>G http://identifiers.org/clinvar/391041 ^@ NM_006077.3(MICU1):c.161+15A>G http://identifiers.org/clinvar/379415 ^@ NM_006904.6(PRKDC):c.10301T>C (p.Ile3434Thr) http://identifiers.org/clinvar/385353 ^@ NM_000051.3(ATM):c.3228A>G (p.Gln1076=) http://identifiers.org/clinvar/387692 ^@ NM_005188.3(CBL):c.1941+17A>T http://identifiers.org/clinvar/386003 ^@ NM_001478.4(B4GALNT1):c.1385-10C>T http://identifiers.org/clinvar/381558 ^@ NM_006231.3(POLE):c.378C>A (p.Gly126=) http://identifiers.org/clinvar/391091 ^@ NM_025215.5(PUS1):c.*8G>C http://identifiers.org/clinvar/381008 ^@ NM_020297.3(ABCC9):c.574-18G>A http://identifiers.org/clinvar/379115 ^@ NM_203447.3(DOCK8):c.1017G>A (p.Pro339=) http://identifiers.org/clinvar/385953 ^@ NM_006231.3(POLE):c.4308G>C (p.Arg1436=) http://identifiers.org/clinvar/384553 ^@ NM_000257.3(MYH7):c.5790+9C>T http://identifiers.org/clinvar/384502 ^@ NM_203447.3(DOCK8):c.4491C>T (p.Phe1497=) http://identifiers.org/clinvar/384202 ^@ NM_001160147.1(DDHD1):c.831C>T (p.Tyr277=) http://identifiers.org/clinvar/392880 ^@ NM_033163.3(FGF8):c.287T>A (p.Val96Asp) http://identifiers.org/clinvar/390891 ^@ NM_213649.1(SFXN4):c.-31T>A http://identifiers.org/clinvar/381058 ^@ NM_014191.3(SCN8A):c.1445A>G (p.Lys482Arg) http://identifiers.org/clinvar/378563 ^@ NM_014191.3(SCN8A):c.5514C>T (p.Ser1838=) http://identifiers.org/clinvar/379015 ^@ NM_000075.3(CDK4):c.288A>G (p.Val96=) http://identifiers.org/clinvar/383401 ^@ NM_000138.4(FBN1):c.6387C>T (p.Asp2129=) http://identifiers.org/clinvar/390841 ^@ NM_002471.3(MYH6):c.4525+6C>T http://identifiers.org/clinvar/384803 ^@ NM_001271.3(CHD2):c.330G>A (p.Arg110=) http://identifiers.org/clinvar/380016 ^@ NM_001278503.1(STT3A):c.1365+8G>A http://identifiers.org/clinvar/387092 ^@ NM_001376.4(DYNC1H1):c.9324A>G (p.Glu3108=) http://identifiers.org/clinvar/384452 ^@ NM_002474.2(MYH11):c.2653-18C>T http://identifiers.org/clinvar/387042 ^@ NM_002474.2(MYH11):c.2412-8C>A http://identifiers.org/clinvar/385553 ^@ NM_022489.3(INF2):c.2419-14G>A http://identifiers.org/clinvar/378207 ^@ NM_002474.2(MYH11):c.4579-6C>T http://identifiers.org/clinvar/47468 ^@ NM_133378.4(TTN):c.80061T>C (p.Thr26687=) http://identifiers.org/clinvar/48009 ^@ NM_005709.3(USH1C):c.1646+1145G>A http://identifiers.org/clinvar/48059 ^@ NM_005572.3(LMNA):c.266G>A (p.Arg89His) http://identifiers.org/clinvar/48109 ^@ NM_172058.3(EYA1):c.813A>G (p.Thr271=) http://identifiers.org/clinvar/48159 ^@ NM_178335.2(CCDC50):c.908A>G (p.Lys303Arg) http://identifiers.org/clinvar/48209 ^@ NM_194248.2(OTOF):c.2908C>T (p.Arg970Cys) http://identifiers.org/clinvar/48259 ^@ NM_194248.2(OTOF):c.5375G>A (p.Arg1792His) http://identifiers.org/clinvar/48309 ^@ NM_000335.4(SCN5A):c.5537G>A (p.Arg1846His) http://identifiers.org/clinvar/48360 ^@ NM_206933.2(USH2A):c.10851C>T (p.Asn3617=) http://identifiers.org/clinvar/48410 ^@ NM_206933.2(USH2A):c.12883A>G (p.Ile4295Val) http://identifiers.org/clinvar/48460 ^@ NM_206933.2(USH2A):c.15321C>T (p.Pro5107=) http://identifiers.org/clinvar/48511 ^@ NM_206933.2(USH2A):c.4106C>T (p.Ser1369Leu) http://identifiers.org/clinvar/115 ^@ NM_022067.3(VIPAS39):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/124 ^@ NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) http://identifiers.org/clinvar/674 ^@ NM_000312.3(PROC):c.678G>C (p.Gln226His) http://identifiers.org/clinvar/715 ^@ NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter) http://identifiers.org/clinvar/985 ^@ NM_024782.2(NHEJ1):c.11dupT (p.Glu5Glyfs) http://identifiers.org/clinvar/1052 ^@ NM_022489.3(INF2):c.652C>T (p.Arg218Trp) http://identifiers.org/clinvar/1137 ^@ NM_001142617.1(STRA6):c.269C>T (p.Pro90Leu) http://identifiers.org/clinvar/1195 ^@ MARVELD2, IVS3AS, G-A, -1 http://identifiers.org/clinvar/1290 ^@ NM_018006.4(TRMU):c.28G>T (p.Ala10Ser) http://identifiers.org/clinvar/1335 ^@ NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) http://identifiers.org/clinvar/1380 ^@ NM_153704.5(TMEM67):c.312+5G>A http://identifiers.org/clinvar/1426 ^@ NM_001177317.1(SLC34A3):c.908delC (p.Pro303Argfs) http://identifiers.org/clinvar/1471 ^@ NM_000190.3(HMBS):c.748G>A (p.Glu250Lys) http://identifiers.org/clinvar/1517 ^@ PKLR, 1269G-A http://identifiers.org/clinvar/1562 ^@ NM_000263.3(NAGLU):c.889C>T (p.Arg297Ter) http://identifiers.org/clinvar/1607 ^@ NM_024884.2(L2HGDH):c.905C>T (p.Pro302Leu) http://identifiers.org/clinvar/1657 ^@ TOPORS, 2-BP DEL, 2552GA http://identifiers.org/clinvar/1701 ^@ NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter) http://identifiers.org/clinvar/1749 ^@ DBH, -970C-T (rs1611115) http://identifiers.org/clinvar/1799 ^@ NM_000102.3(CYP17A1):c.1283C>T (p.Pro428Leu) http://identifiers.org/clinvar/1843 ^@ MRAP, 7-BP DEL, NT17 http://identifiers.org/clinvar/1889 ^@ MUT, IVS11, C-A, -891 http://identifiers.org/clinvar/1933 ^@ NM_020166.4(MCCC1):c.1604C>T (p.Ser535Phe) http://identifiers.org/clinvar/1979 ^@ NM_000022.3(ADA):c.454C>A (p.Leu152Met) http://identifiers.org/clinvar/2022 ^@ NM_017780.3(CHD7):c.3082A>G (p.Ile1028Val) http://identifiers.org/clinvar/10149 ^@ NM_000132.3(F8):c.1754T>C (p.Ile585Thr) http://identifiers.org/clinvar/10194 ^@ NM_000132.3(F8):c.907delG (p.Ala303Argfs) http://identifiers.org/clinvar/10239 ^@ NM_000132.3(F8):c.1958T>C (p.Val653Ala) http://identifiers.org/clinvar/10284 ^@ NM_000132.3(F8):c.5558C>T (p.Ala1853Val) http://identifiers.org/clinvar/10329 ^@ NM_000132.3(F8):c.6794_6795delAG (p.Gln2265Argfs) http://identifiers.org/clinvar/10376 ^@ NM_000402.4(G6PD):c.1250G>A (p.Arg417His) http://identifiers.org/clinvar/10426 ^@ NM_002049.3(GATA1):c.184_187dupTACT (p.Tyr63Leufs) http://identifiers.org/clinvar/10474 ^@ NM_000032.4(ALAS2):c.569A>T (p.Asp190Val) http://identifiers.org/clinvar/11098 ^@ NM_001128834.2(PLP1):c.409C>T (p.Arg137Trp) http://identifiers.org/clinvar/11142 ^@ NM_182680.1(AMELX):c.208C>A (p.Pro70Thr) http://identifiers.org/clinvar/11189 ^@ ARX, 1,517-BP DEL http://identifiers.org/clinvar/11233 ^@ NM_004006.2(DMD):c.2017C>T (p.Gln673Ter) http://identifiers.org/clinvar/11279 ^@ NM_004006.2(DMD):c.835A>G (p.Thr279Ala) http://identifiers.org/clinvar/11323 ^@ TIMM8A, DEL http://identifiers.org/clinvar/11489 ^@ NM_006579.2(EBP):c.386G>A (p.Trp129Ter) http://identifiers.org/clinvar/242793 ^@ NM_000373.3(UMPS):c.286A>G (p.Arg96Gly) http://identifiers.org/clinvar/12445 ^@ NM_003280.2(TNNC1):c.435C>A (p.Asp145Glu) http://identifiers.org/clinvar/12495 ^@ NM_000359.2(TGM1):c.857G>A (p.Arg286Gln) http://identifiers.org/clinvar/12545 ^@ NM_001128177.1(THRB):c.1034G>T (p.Gly345Val) http://identifiers.org/clinvar/12596 ^@ NM_033360.3(KRAS):c.13A>G (p.Lys5Glu) http://identifiers.org/clinvar/12646 ^@ HNF1B, EX5DUP http://identifiers.org/clinvar/12697 ^@ NM_003235.4(TG):c.2200T>G (p.Ser734Ala) http://identifiers.org/clinvar/12748 ^@ NM_000732.4(CD3D):c.279C>A (p.Cys93Ter) http://identifiers.org/clinvar/12798 ^@ NM_004959.4(NR5A1):c.48C>A (p.Cys16Ter) http://identifiers.org/clinvar/12848 ^@ NM_003126.2(SPTA1):c.781T>C (p.Ser261Pro) http://identifiers.org/clinvar/12899 ^@ SCN1A, DEL EX21-26 http://identifiers.org/clinvar/12949 ^@ NM_003035.2(STIL):c.3655delG (p.Val1219Terfs) http://identifiers.org/clinvar/13000 ^@ NM_001021.4(RPS17):c.200_201delGA (p.Gly68Tyrfs) http://identifiers.org/clinvar/13051 ^@ NM_000539.3(RHO):c.790_792delTGC (p.Cys264del) http://identifiers.org/clinvar/13102 ^@ PDE6G, IVS3DS, G-T, +1 http://identifiers.org/clinvar/13152 ^@ RAG1, 1-BP DEL, 887A http://identifiers.org/clinvar/13204 ^@ NM_198843.2(SFTPB):c.742C>T (p.Arg248Cys) http://identifiers.org/clinvar/13255 ^@ NM_001079.3(ZAP70):c.1554C>A (p.Ser518Arg) http://identifiers.org/clinvar/13306 ^@ NM_000506.3(F2):c.1802G>T (p.Gly601Val) http://identifiers.org/clinvar/13356 ^@ NM_001035256.2(POMC):c.706C>G (p.Arg236Gly) http://identifiers.org/clinvar/13410 ^@ NM_000311.4(PRNP):c.392G>T (p.Gly131Val) http://identifiers.org/clinvar/13461 ^@ NM_000371.3(TTR):c.191T>C (p.Phe64Ser) http://identifiers.org/clinvar/13512 ^@ NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) http://identifiers.org/clinvar/13562 ^@ NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr) http://identifiers.org/clinvar/36687 ^@ NM_000535.6(PMS2):c.2007-7C>T http://identifiers.org/clinvar/36740 ^@ NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys) http://identifiers.org/clinvar/36791 ^@ NM_139276.2(STAT3):c.2134T>C (p.Cys712Arg) http://identifiers.org/clinvar/36841 ^@ NM_000458.3(HNF1B):c.1413C>T (p.Pro471=) http://identifiers.org/clinvar/36892 ^@ NM_000371.3(TTR):c.337-18G>C http://identifiers.org/clinvar/36961 ^@ NM_002501.3(NFIX):c.1243delG (p.Ala415Profs) http://identifiers.org/clinvar/37060 ^@ NM_015631.5(TCTN3):c.1348_1349delCT (p.Leu450Serfs) http://identifiers.org/clinvar/37130 ^@ NM_004984.2(KIF5A):c.839G>A (p.Arg280His) http://identifiers.org/clinvar/37262 ^@ NM_003036.3(SKI):c.100G>T (p.Gly34Cys) http://identifiers.org/clinvar/37352 ^@ NM_000155.3(GALT):c.416T>C (p.Leu139Pro) http://identifiers.org/clinvar/37417 ^@ NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) http://identifiers.org/clinvar/37469 ^@ NM_007294.3(BRCA1):c.2433delC (p.Lys812Argfs) http://identifiers.org/clinvar/37527 ^@ NM_007294.3(BRCA1):c.3362A>G (p.Asn1121Ser) http://identifiers.org/clinvar/37580 ^@ NM_007294.3(BRCA1):c.427G>A (p.Glu143Lys) http://identifiers.org/clinvar/37632 ^@ NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn) http://identifiers.org/clinvar/37686 ^@ NM_007294.3(BRCA1):c.594-2A>C http://identifiers.org/clinvar/37740 ^@ NM_000059.3(BRCA2):c.1438T>C (p.Cys480Arg) http://identifiers.org/clinvar/37793 ^@ NM_000059.3(BRCA2):c.2588dupA (p.Asn863Lysfs) http://identifiers.org/clinvar/39075 ^@ NM_024312.4(GNPTAB):c.3458A>G (p.Asn1153Ser) http://identifiers.org/clinvar/39649 ^@ NM_001369.2(DNAH5):c.2261dupT (p.Met754Ilefs) http://identifiers.org/clinvar/39701 ^@ NM_001256071.2(RNF213):c.12037G>A (p.Asp4013Asn) http://identifiers.org/clinvar/39752 ^@ NM_145239.2(PRRT2):c.649delC (p.Arg217Glufs) http://identifiers.org/clinvar/39802 ^@ NM_033109.4(PNPT1):c.1424A>G (p.Glu475Gly) http://identifiers.org/clinvar/39853 ^@ NM_001170961.1(IGSF1):c.3596dupT (p.Glu1200Argfs) http://identifiers.org/clinvar/40008 ^@ NM_001329595.1(KLHL10):c.647A>C (p.Gln216Pro) http://identifiers.org/clinvar/40179 ^@ NM_020365.4(EIF2B3):c.80T>A (p.Leu27Gln) http://identifiers.org/clinvar/40290 ^@ NM_002335.3(LRP5):c.4600C>T (p.Arg1534Ter) http://identifiers.org/clinvar/40399 ^@ NM_004333.4(BRAF):c.2235A>G (p.Leu745=) http://identifiers.org/clinvar/40468 ^@ NM_002524.4(NRAS):c.34G>T (p.Gly12Cys) http://identifiers.org/clinvar/40526 ^@ NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) http://identifiers.org/clinvar/40588 ^@ NM_002880.3(RAF1):c.212A>G (p.Asn71Ser) http://identifiers.org/clinvar/40651 ^@ NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) http://identifiers.org/clinvar/40743 ^@ NM_002755.3(MAP2K1):c.371C>A (p.Pro124Gln) http://identifiers.org/clinvar/40835 ^@ NM_030662.3(MAP2K2):c.919+12A>G http://identifiers.org/clinvar/41012 ^@ NM_000485.2(APRT):c.448G>T (p.Val150Phe) http://identifiers.org/clinvar/41068 ^@ NM_003611.2(OFD1):c.1221+1delG http://identifiers.org/clinvar/41125 ^@ NM_003611.2:c.441+65A>G http://identifiers.org/clinvar/41177 ^@ NM_003977.3(AIP):c.3_4insC (p.Ala2Argfs) http://identifiers.org/clinvar/41235 ^@ NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) http://identifiers.org/clinvar/53189 ^@ NM_000492.3(CFTR):c.1116+17C>T http://identifiers.org/clinvar/54148 ^@ NM_007294.3(BRCA1):c.1152dupG (p.Trp385Valfs) http://identifiers.org/clinvar/54198 ^@ NM_007294.3(BRCA1):c.1319dupT (p.Leu440Phefs) http://identifiers.org/clinvar/54248 ^@ NM_007294.3(BRCA1):c.1418A>G (p.Asn473Ser) http://identifiers.org/clinvar/54299 ^@ NM_007294.3(BRCA1):c.1576C>T (p.Gln526Ter) http://identifiers.org/clinvar/54349 ^@ NM_007294.3(BRCA1):c.178C>T (p.Gln60Ter) http://identifiers.org/clinvar/54400 ^@ NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) http://identifiers.org/clinvar/54450 ^@ NM_007294.3(BRCA1):c.206C>A (p.Thr69Asn) http://identifiers.org/clinvar/54500 ^@ NM_007294.3(BRCA1):c.2210delC (p.Thr737Lysfs) http://identifiers.org/clinvar/54550 ^@ NM_007294.3(BRCA1):c.2362G>A (p.Val788Ile) http://identifiers.org/clinvar/54600 ^@ NM_007294.3(BRCA1):c.2560_2561dupGC (p.Gln855Leufs) http://identifiers.org/clinvar/54650 ^@ NM_007294.3(BRCA1):c.2694dupA (p.Val899Serfs) http://identifiers.org/clinvar/54700 ^@ NM_007294.3(BRCA1):c.2856_2857delTT (p.Phe952Leufs) http://identifiers.org/clinvar/54750 ^@ NM_007294.3(BRCA1):c.302-1G>A http://identifiers.org/clinvar/54800 ^@ NM_007294.3(BRCA1):c.3220A>G (p.Arg1074Gly) http://identifiers.org/clinvar/54850 ^@ NM_007294.3(BRCA1):c.3342_3345delAGAA (p.Glu1115Terfs) http://identifiers.org/clinvar/54900 ^@ NM_007294.3(BRCA1):c.3491G>T (p.Ser1164Ile) http://identifiers.org/clinvar/54951 ^@ NM_007294.3(BRCA1):c.3647T>G (p.Leu1216Ter) http://identifiers.org/clinvar/55003 ^@ NM_007294.3(BRCA1):c.3782T>G (p.Leu1261Ter) http://identifiers.org/clinvar/55053 ^@ NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys) http://identifiers.org/clinvar/55104 ^@ NM_007294.3(BRCA1):c.4107_4110dupATCT (p.Gly1371Ilefs) http://identifiers.org/clinvar/55155 ^@ NM_007294.3(BRCA1):c.4258C>T (p.Gln1420Ter) http://identifiers.org/clinvar/55206 ^@ NM_007294.3(BRCA1):c.4460A>G (p.Lys1487Arg) http://identifiers.org/clinvar/55256 ^@ NM_007294.3(BRCA1):c.4675+1G>A http://identifiers.org/clinvar/55307 ^@ NM_007294.3(BRCA1):c.4884G>T (p.Met1628Ile) http://identifiers.org/clinvar/55357 ^@ NM_007294.3(BRCA1):c.5027dupT (p.Leu1676Phefs) http://identifiers.org/clinvar/55407 ^@ NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) http://identifiers.org/clinvar/55457 ^@ NM_007294.3(BRCA1):c.5207delT (p.Val1736Alafs) http://identifiers.org/clinvar/56220 ^@ NM_000310.3(PPT1):c.914T>C (p.Leu305Pro) http://identifiers.org/clinvar/56323 ^@ NM_001081.3(CUBN):c.1865delC (p.Thr622Ilefs) http://identifiers.org/clinvar/56373 ^@ NM_001126105.2(SLC7A7):c.622C>T (p.Gln208Ter) http://identifiers.org/clinvar/56425 ^@ NM_004646.3(NPHS1):c.1126C>G (p.Leu376Val) http://identifiers.org/clinvar/56475 ^@ NM_004646.3(NPHS1):c.248dupA (p.Tyr83Terfs) http://identifiers.org/clinvar/56525 ^@ NM_006493.2(CLN5):c.1026C>A (p.Tyr342Ter) http://identifiers.org/clinvar/56578 ^@ NM_017739.3(POMGNT1):c.1285-2A>G http://identifiers.org/clinvar/56684 ^@ NM_017890.4(VPS13B):c.6733-2A>G http://identifiers.org/clinvar/56734 ^@ NM_025114.3(CEP290):c.289G>T (p.Glu97Ter) http://identifiers.org/clinvar/56787 ^@ NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) http://identifiers.org/clinvar/56991 ^@ GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1 http://identifiers.org/clinvar/57046 ^@ GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 http://identifiers.org/clinvar/57099 ^@ GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1 http://identifiers.org/clinvar/57154 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8082609)x2 http://identifiers.org/clinvar/57204 ^@ GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1 http://identifiers.org/clinvar/57258 ^@ GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 http://identifiers.org/clinvar/57311 ^@ GRCh38/hg38 8p23.3(chr8:241530-1371695)x1 http://identifiers.org/clinvar/57364 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 http://identifiers.org/clinvar/101182 ^@ NM_000090.3(COL3A1):c.3554G>T (p.Gly1185Val) http://identifiers.org/clinvar/101232 ^@ NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del) http://identifiers.org/clinvar/101282 ^@ NM_000090.3(COL3A1):c.2897G>T (p.Gly966Val) http://identifiers.org/clinvar/101332 ^@ NM_000090.3(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del) http://identifiers.org/clinvar/101382 ^@ NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter) http://identifiers.org/clinvar/101432 ^@ NM_000090.3(COL3A1):c.2121+1G>C (p.Gly675_Lys707del) http://identifiers.org/clinvar/101482 ^@ NM_000090.3(COL3A1):c.2553+3A>T (p.Gly816_Ala851del) http://identifiers.org/clinvar/102437 ^@ NM_017775.3(TTC19):c.601_604delGGCT (p.Gly201Metfs) http://identifiers.org/clinvar/102495 ^@ NM_000277.1(PAH):c.1049C>A (p.Ser350Tyr) http://identifiers.org/clinvar/102553 ^@ NM_000277.1(PAH):c.1198A>C (p.Arg400=) http://identifiers.org/clinvar/102604 ^@ NM_000277.1(PAH):c.168+1G>A http://identifiers.org/clinvar/102659 ^@ NM_000277.1(PAH):c.371C>T (p.Thr124Ile) http://identifiers.org/clinvar/102710 ^@ NM_000277.1(PAH):c.509+5delG http://identifiers.org/clinvar/102760 ^@ NM_000277.1(PAH):c.614A>C (p.Glu205Ala) http://identifiers.org/clinvar/102811 ^@ NM_000277.1(PAH):c.734T>A (p.Val245Glu) http://identifiers.org/clinvar/102861 ^@ NM_000277.1(PAH):c.832A>G (p.Thr278Ala) http://identifiers.org/clinvar/102913 ^@ NM_000277.1(PAH):c.967_969delACA (p.Thr323del) http://identifiers.org/clinvar/102971 ^@ NM_022162.2(NOD2):c.-162T>C http://identifiers.org/clinvar/103021 ^@ NM_001033053.2(NLRP1):c.2870+58A>G http://identifiers.org/clinvar/103071 ^@ NM_001199138.1(NLRC4):c.-118-1G>A http://identifiers.org/clinvar/103121 ^@ NM_022162.2(NOD2):c.2462+199A>G http://identifiers.org/clinvar/103171 ^@ NM_032206.4(NLRC5):c.296-29A>C http://identifiers.org/clinvar/103221 ^@ NM_134444.4(NLRP4):c.2143T>G (p.Cys715Gly) http://identifiers.org/clinvar/103271 ^@ NM_145007.3(NLRP11):c.1842-128T>C http://identifiers.org/clinvar/103321 ^@ NM_176811.2(NLRP8):c.1013C>T (p.Ser338Phe) http://identifiers.org/clinvar/125815 ^@ NM_007294.3(BRCA1):c.5277+77C>T http://identifiers.org/clinvar/125877 ^@ NM_007294.3(BRCA1):c.470delC (p.Ser157Leufs) http://identifiers.org/clinvar/125943 ^@ NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) http://identifiers.org/clinvar/126004 ^@ U43746.1:n.3347_3348delAG http://identifiers.org/clinvar/126073 ^@ NM_000059.3(BRCA2):c.5686G>C (p.Ala1896Pro) http://identifiers.org/clinvar/126141 ^@ NM_000059.3(BRCA2):c.7596_7609delCTCTGCGTGTTCTC (p.Ser2533Terfs) http://identifiers.org/clinvar/126200 ^@ NM_000059.3(BRCA2):c.9098dupC (p.Gln3034Serfs) http://identifiers.org/clinvar/126259 ^@ NM_025114.3(CEP290):c.442-19T>A http://identifiers.org/clinvar/126309 ^@ NM_006015.4(ARID1A):c.126_128dupGGC (p.Ala45_Glu46insAla) http://identifiers.org/clinvar/126360 ^@ NM_001128849.1(SMARCA4):c.3168+31C>G http://identifiers.org/clinvar/126417 ^@ NM_001111125.2(IQSEC2):c.2563C>T (p.Arg855Ter) http://identifiers.org/clinvar/126485 ^@ NM_021625.4(TRPV4):c.883A>G (p.Thr295Ala) http://identifiers.org/clinvar/126571 ^@ NM_024675.3(PALB2):c.-158G>C http://identifiers.org/clinvar/126621 ^@ NM_024675.3(PALB2):c.1685-70T>G http://identifiers.org/clinvar/126673 ^@ NM_024675.3(PALB2):c.2686dupT (p.Ser896Phefs) http://identifiers.org/clinvar/126723 ^@ NM_024675.3(PALB2):c.3202-1G>C http://identifiers.org/clinvar/126774 ^@ NM_024675.3(PALB2):c.83A>G (p.Tyr28Cys) http://identifiers.org/clinvar/126825 ^@ NM_000321.2(RB1):c.1021A>T (p.Lys341Ter) http://identifiers.org/clinvar/126878 ^@ NM_000610.3(CD44):c.2024+779A>G http://identifiers.org/clinvar/126934 ^@ NM_001127464.2(ZNF469):c.9471C>G (p.Ala3157=) http://identifiers.org/clinvar/126984 ^@ NM_000249.3(MLH1):c.117-109A>G http://identifiers.org/clinvar/127034 ^@ NM_005591.3(MRE11):c.845+86G>A http://identifiers.org/clinvar/127090 ^@ NM_001039590.2(USP9X):c.6278T>A (p.Leu2093His) http://identifiers.org/clinvar/127158 ^@ NM_025132.3(WDR19):c.3533G>A (p.Arg1178Gln) http://identifiers.org/clinvar/127257 ^@ NM_001127255.1(NLRP7):c.1171A>G (p.Thr391Ala) http://identifiers.org/clinvar/127308 ^@ NM_000038.5(APC):c.5758C>G (p.Arg1920Gly) http://identifiers.org/clinvar/127358 ^@ NM_000051.3(ATM):c.2770C>T (p.Arg924Trp) http://identifiers.org/clinvar/127408 ^@ NM_000051.3(ATM):c.5489T>C (p.Met1830Thr) http://identifiers.org/clinvar/127458 ^@ NM_000051.3(ATM):c.8269-10_8269-9delGT http://identifiers.org/clinvar/159964 ^@ NM_006306.3(SMC1A):c.855-15C>T http://identifiers.org/clinvar/160789 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 http://identifiers.org/clinvar/161485 ^@ NM_001005279.2(OR6K2):c.947G>T (p.Arg316Ile) http://identifiers.org/clinvar/161685 ^@ NM_014777.3(URB2):c.1372C>G (p.Gln458Glu) http://identifiers.org/clinvar/161535 ^@ NM_001145368.1(PTPN3):c.632C>T (p.Ala211Val) http://identifiers.org/clinvar/161735 ^@ NM_020693.3(DSCAML1):c.2321A>G (p.Asp774Gly) http://identifiers.org/clinvar/161835 ^@ NM_176889.3(TAS2R20):c.254C>G (p.Ser85Cys) http://identifiers.org/clinvar/161585 ^@ NM_001906.5(CTRB1):c.633C>T (p.Gly211=) http://identifiers.org/clinvar/161785 ^@ NM_032932.5(RAB11FIP4):c.1901A>T (p.Glu634Val) http://identifiers.org/clinvar/161635 ^@ NM_005441.2(CHAF1B):c.862A>G (p.Thr288Ala) http://identifiers.org/clinvar/161999 ^@ NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter) http://identifiers.org/clinvar/162066 ^@ NM_001164405.1(BHLHA9):c.218G>C (p.Arg73Pro) http://identifiers.org/clinvar/162125 ^@ NM_005211.3(CSF1R):c.2378A>C (p.Lys793Thr) http://identifiers.org/clinvar/162194 ^@ NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) http://identifiers.org/clinvar/162396 ^@ STX1B, INS/DEL, NT133 AND LEU46MET http://identifiers.org/clinvar/162477 ^@ NM_004208.3(AIFM1):c.1030C>T (p.Leu344Phe) http://identifiers.org/clinvar/162535 ^@ NM_001849.3(COL6A2):c.1797G>C (p.Arg599Ser) http://identifiers.org/clinvar/162618 ^@ NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn) http://identifiers.org/clinvar/179354 ^@ NM_001035.2(RYR2):c.1170+15A>G http://identifiers.org/clinvar/166488 ^@ NM_206933.2(USH2A):c.6233C>G (p.Pro2078Arg) http://identifiers.org/clinvar/179454 ^@ NM_001035.2(RYR2):c.11326-4A>G http://identifiers.org/clinvar/179754 ^@ NM_001035.2(RYR2):c.12139G>C (p.Asp4047His) http://identifiers.org/clinvar/178904 ^@ NM_144573.3(NEXN):c.949A>C (p.Met317Leu) http://identifiers.org/clinvar/178854 ^@ NM_133378.4(TTN):c.97858A>C (p.Ile32620Leu) http://identifiers.org/clinvar/179654 ^@ NM_133378.4(TTN):c.83038G>A (p.Val27680Ile) http://identifiers.org/clinvar/162724 ^@ NM_001103.3(ACTN2):c.18C>A (p.Pro6=) http://identifiers.org/clinvar/163059 ^@ NM_001042702.3(DFNB59):c.766A>C (p.Asn256His) http://identifiers.org/clinvar/179154 ^@ NM_133378.4(TTN):c.84028G>A (p.Val28010Ile) http://identifiers.org/clinvar/179704 ^@ NM_133378.4(TTN):c.41139C>T (p.Thr13713=) http://identifiers.org/clinvar/179304 ^@ NM_001256850.1(TTN):c.19218C>T (p.Ala6406=) http://identifiers.org/clinvar/179054 ^@ NM_133378.4(TTN):c.21394C>T (p.Pro7132Ser) http://identifiers.org/clinvar/178753 ^@ NM_001369.2(DNAH5):c.2296A>T (p.Ile766Leu) http://identifiers.org/clinvar/166357 ^@ NM_133378.4(TTN):c.965G>A (p.Arg322Lys) http://identifiers.org/clinvar/163654 ^@ NM_001080476.2(GRXCR1):c.296T>C (p.Ile99Thr) http://identifiers.org/clinvar/179104 ^@ NM_024334.2(TMEM43):c.147A>G (p.Leu49=) http://identifiers.org/clinvar/179604 ^@ NM_024334.2(TMEM43):c.883-15C>A http://identifiers.org/clinvar/162862 ^@ NM_178335.2(CCDC50):c.1429+5G>A http://identifiers.org/clinvar/166579 ^@ NM_006005.3(WFS1):c.881A>T (p.His294Leu) http://identifiers.org/clinvar/179504 ^@ NM_004415.3(DSP):c.8576_8577delCT (p.Ser2859Leufs) http://identifiers.org/clinvar/179404 ^@ NM_000492.3(CFTR):c.4129G>A (p.Asp1377Asn) http://identifiers.org/clinvar/162797 ^@ NM_004333.4(BRAF):c.1914T>G (p.Asp638Glu) http://identifiers.org/clinvar/163115 ^@ NM_001277115.1(DNAH11):c.8770G>A (p.Val2924Met) http://identifiers.org/clinvar/178335 ^@ NM_004403.2(DFNA5):c.553G>A (p.Gly185Ser) http://identifiers.org/clinvar/179204 ^@ NM_032119.3(ADGRV1):c.13919G>A (p.Gly4640Glu) http://identifiers.org/clinvar/242589 ^@ NM_000642.2(AGL):c.611T>A (p.Leu204Ter) http://identifiers.org/clinvar/203072 ^@ NM_001256850.1(TTN):c.98548G>C (p.Glu32850Gln) http://identifiers.org/clinvar/203022 ^@ NM_001256850.1(TTN):c.91455G>C (p.Trp30485Cys) http://identifiers.org/clinvar/202972 ^@ NM_001256850.1(TTN):c.86045G>C (p.Arg28682Thr) http://identifiers.org/clinvar/202922 ^@ NM_001256850.1(TTN):c.78370G>A (p.Asp26124Asn) http://identifiers.org/clinvar/202822 ^@ NM_001256850.1(TTN):c.65240G>A (p.Arg21747Gln) http://identifiers.org/clinvar/202519 ^@ NM_001256850.1(TTN):c.62135-1G>C http://identifiers.org/clinvar/230190 ^@ NM_005732.3(RAD50):c.1891G>A (p.Asp631Asn) http://identifiers.org/clinvar/230290 ^@ NM_004168.3(SDHA):c.615T>A (p.Tyr205Ter) http://identifiers.org/clinvar/230090 ^@ NM_000535.6(PMS2):c.-1C>A http://identifiers.org/clinvar/230590 ^@ NM_002485.4(NBN):c.1983A>G (p.Ser661=) http://identifiers.org/clinvar/230440 ^@ NM_002485.4(NBN):c.1474C>A (p.Gln492Lys) http://identifiers.org/clinvar/230140 ^@ NM_002485.4(NBN):c.109A>G (p.Asn37Asp) http://identifiers.org/clinvar/230340 ^@ NM_000077.4(CDKN2A):c.175_212del38 (p.Val59Leufs) http://identifiers.org/clinvar/229890 ^@ NM_000077.4(CDKN2A):c.15G>T (p.Ala5=) http://identifiers.org/clinvar/230040 ^@ NM_000314.6(PTEN):c.915T>G (p.Ser305Arg) http://identifiers.org/clinvar/229990 ^@ NM_000051.3(ATM):c.931A>G (p.Ile311Val) http://identifiers.org/clinvar/230690 ^@ NM_000051.3(ATM):c.1319C>T (p.Ser440Phe) http://identifiers.org/clinvar/229690 ^@ NM_000051.3(ATM):c.2922C>T (p.Ser974=) http://identifiers.org/clinvar/230740 ^@ NM_005591.3(MRE11):c.2058dupT (p.Glu687Terfs) http://identifiers.org/clinvar/229740 ^@ NM_005591.3(MRE11):c.1927G>T (p.Val643Leu) http://identifiers.org/clinvar/231479 ^@ NM_000059.3(BRCA2):c.3789T>C (p.Ser1263=) http://identifiers.org/clinvar/229840 ^@ NM_000059.3(BRCA2):c.7030A>G (p.Ile2344Val) http://identifiers.org/clinvar/230390 ^@ NM_000548.4(TSC2):c.4137G>A (p.Ser1379=) http://identifiers.org/clinvar/229790 ^@ NM_024675.3(PALB2):c.3392T>C (p.Ile1131Thr) http://identifiers.org/clinvar/231429 ^@ NM_024675.3(PALB2):c.1346A>T (p.Lys449Ile) http://identifiers.org/clinvar/230640 ^@ NM_001042492.2(NF1):c.623C>T (p.Ala208Val) http://identifiers.org/clinvar/229940 ^@ NM_007294.3(BRCA1):c.1496C>T (p.Thr499Ile) http://identifiers.org/clinvar/231529 ^@ NM_007294.3(BRCA1):c.222A>G (p.Gln74=) http://identifiers.org/clinvar/230240 ^@ NM_032043.2(BRIP1):c.1061C>T (p.Thr354Ile) http://identifiers.org/clinvar/230490 ^@ NM_000455.4(STK11):c.991C>T (p.Arg331Trp) http://identifiers.org/clinvar/235350 ^@ NM_000085.4(CLCNKB):c.1692delG (p.Glu565Argfs) http://identifiers.org/clinvar/235405 ^@ NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) http://identifiers.org/clinvar/235460 ^@ NC_012920.1:m.10335T>C http://identifiers.org/clinvar/235512 ^@ NM_170740.1(ALDH5A1):c.842G>A (p.Gly281Glu) http://identifiers.org/clinvar/235565 ^@ NM_170740.1(ALDH5A1):c.1460A>C (p.Asp487Ala) http://identifiers.org/clinvar/235615 ^@ NM_153767.3(KCNJ1):c.1034A>G (p.Asp345Gly) http://identifiers.org/clinvar/235668 ^@ NM_001104631.1(PDE4D):c.1288-8dupT http://identifiers.org/clinvar/235728 ^@ NM_006929.4(SKIV2L):c.1120C>T (p.Arg374Ter) http://identifiers.org/clinvar/235784 ^@ NM_005027.3(PIK3R2):c.451C>T (p.Pro151Ser) http://identifiers.org/clinvar/235855 ^@ NM_004187.3(KDM5C):c.1296dupT (p.Glu433Terfs) http://identifiers.org/clinvar/236039 ^@ NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC http://identifiers.org/clinvar/236139 ^@ NM_000350.2(ABCA4):c.5828T>C (p.Leu1943Pro) http://identifiers.org/clinvar/236089 ^@ NM_000350.2(ABCA4):c.1918C>G (p.Pro640Ala) http://identifiers.org/clinvar/236189 ^@ NM_014625.3(NPHS2):c.-79G>A http://identifiers.org/clinvar/236277 ^@ NM_000059.3(BRCA2):c.1906delT (p.Ser636Glnfs) http://identifiers.org/clinvar/236328 ^@ NC_000022.9:g.21309897_23340746dup2030850 http://identifiers.org/clinvar/236378 ^@ NC_000002.11:g.155363751_158667217del3303467 http://identifiers.org/clinvar/236479 ^@ NM_201253.2(CRB1):c.2869C>T (p.Gln957Ter) http://identifiers.org/clinvar/236529 ^@ NM_206933.2(USH2A):c.14350G>T (p.Glu4784Ter) http://identifiers.org/clinvar/236429 ^@ NM_022124.5(CDH23):c.2398-1G>T http://identifiers.org/clinvar/237875 ^@ NM_000530.7(MPZ):c.200G>A (p.Arg67His) http://identifiers.org/clinvar/239479 ^@ NM_003036.3(SKI):c.487G>A (p.Val163Ile) http://identifiers.org/clinvar/238225 ^@ NM_001035.2(RYR2):c.1665C>T (p.Leu555=) http://identifiers.org/clinvar/240969 ^@ NM_015102.4(NPHP4):c.2876G>A (p.Arg959Gln) http://identifiers.org/clinvar/238875 ^@ NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) http://identifiers.org/clinvar/238825 ^@ NM_001267550.2(TTN):c.65159C>T (p.Pro21720Leu) http://identifiers.org/clinvar/238775 ^@ NM_001267550.2(TTN):c.41894T>G (p.Val13965Gly) http://identifiers.org/clinvar/238725 ^@ NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) http://identifiers.org/clinvar/237775 ^@ NM_000393.4(COL5A2):c.3309G>A (p.Pro1103=) http://identifiers.org/clinvar/240919 ^@ NM_014585.5(SLC40A1):c.485_487dupTTG (p.Val162_Ala163insVal) http://identifiers.org/clinvar/237825 ^@ NM_000465.3(BARD1):c.171G>C (p.Leu57=) http://identifiers.org/clinvar/241019 ^@ NM_015120.4(ALMS1):c.9870G>A (p.Pro3290=) http://identifiers.org/clinvar/241719 ^@ NM_032638.4(GATA2):c.1410C>T (p.Pro470=) http://identifiers.org/clinvar/241469 ^@ NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) http://identifiers.org/clinvar/240669 ^@ NM_006514.3(SCN10A):c.3507+10G>A http://identifiers.org/clinvar/241069 ^@ NM_015896.3(ZMYND10):c.478G>A (p.Gly160Arg) http://identifiers.org/clinvar/238575 ^@ NM_001148.4(ANK2):c.2945G>A (p.Arg982Gln) http://identifiers.org/clinvar/238275 ^@ NM_001080522.2(CC2D2A):c.1359+9G>T http://identifiers.org/clinvar/236579 ^@ NM_000038.5(APC):c.2765T>G (p.Leu922Arg) http://identifiers.org/clinvar/236629 ^@ NM_000038.5(APC):c.6310A>G (p.Ile2104Val) http://identifiers.org/clinvar/238975 ^@ NM_001369.2(DNAH5):c.4836G>A (p.Val1612=) http://identifiers.org/clinvar/238925 ^@ NM_001277115.1(DNAH11):c.563T>G (p.Met188Arg) http://identifiers.org/clinvar/261818 ^@ NM_025074.6(FRAS1):c.9116-5C>G http://identifiers.org/clinvar/255789 ^@ NM_000297.3(PKD2):c.1548+9G>C http://identifiers.org/clinvar/263107 ^@ NM_198253.2(TERT):c.2517G>A (p.Thr839=) http://identifiers.org/clinvar/258528 ^@ NM_001999.3(FBN2):c.8112C>T (p.Asn2704=) http://identifiers.org/clinvar/255939 ^@ NM_000358.2(TGFBI):c.651G>C (p.Leu217=) http://identifiers.org/clinvar/257978 ^@ NM_001369.2(DNAH5):c.11298C>T (p.Tyr3766=) http://identifiers.org/clinvar/258028 ^@ NM_001369.2(DNAH5):c.4054-20T>C http://identifiers.org/clinvar/263207 ^@ NM_199189.2(MATR3):c.-43T>A http://identifiers.org/clinvar/258778 ^@ NM_002609.3(PDGFRB):c.3137+4A>G http://identifiers.org/clinvar/263057 ^@ NM_182925.4(FLT4):c.3971G>T (p.Arg1324Leu) http://identifiers.org/clinvar/261668 ^@ NM_023073.3(C5orf42):c.2427A>G (p.Leu809=) http://identifiers.org/clinvar/256089 ^@ NM_000426.3(LAMA2):c.8076-24A>G http://identifiers.org/clinvar/256289 ^@ NM_000500.7(CYP21A2):c.292+9C>T http://identifiers.org/clinvar/261118 ^@ NM_019105.6(TNXB):c.12052+11G>A http://identifiers.org/clinvar/261168 ^@ NM_019105.6(TNXB):c.8192C>G (p.Pro2731Arg) http://identifiers.org/clinvar/255739 ^@ NM_000287.3(PEX6):c.2644G>A (p.Val882Ile) http://identifiers.org/clinvar/262407 ^@ NM_138694.3(PKHD1):c.6184C>T (p.Leu2062=) http://identifiers.org/clinvar/261218 ^@ NM_020320.4(RARS2):c.111-19T>G http://identifiers.org/clinvar/258128 ^@ NM_001458.4(FLNC):c.1814-28T>C http://identifiers.org/clinvar/257878 ^@ NM_001277115.1(DNAH11):c.2380G>A (p.Glu794Lys) http://identifiers.org/clinvar/257928 ^@ NM_001277115.1(DNAH11):c.7441-19A>G http://identifiers.org/clinvar/260768 ^@ NM_016616.4(NME8):c.739G>A (p.Glu247Lys) http://identifiers.org/clinvar/260918 ^@ NM_017802.3(DNAAF5):c.1024+10C>T http://identifiers.org/clinvar/256839 ^@ NM_000941.2(POR):c.1248+20G>A http://identifiers.org/clinvar/258178 ^@ NM_001715.2(BLK):c.472+12G>A http://identifiers.org/clinvar/261318 ^@ NM_020476.2(ANK1):c.5619+16C>T http://identifiers.org/clinvar/262757 ^@ NM_153704.5(TMEM67):c.870-30C>T http://identifiers.org/clinvar/262657 ^@ NM_152564.4(VPS13B):c.1206+33T>G http://identifiers.org/clinvar/258628 ^@ NM_002316.3(LMX1B):c.560-19C>T http://identifiers.org/clinvar/260518 ^@ NM_015046.5(SETX):c.719-40T>G http://identifiers.org/clinvar/262857 ^@ NM_173551.4(ANKS6):c.862+20G>A http://identifiers.org/clinvar/260468 ^@ NM_014915.2(ANKRD26):c.3972+3A>G http://identifiers.org/clinvar/260718 ^@ NM_016341.3(PLCE1):c.4059C>T (p.Phe1353=) http://identifiers.org/clinvar/260668 ^@ NM_015631.5(TCTN3):c.280T>C (p.Leu94=) http://identifiers.org/clinvar/263257 ^@ NM_199292.2(TH):c.670-22C>T http://identifiers.org/clinvar/263307 ^@ NM_213599.2(ANO5):c.1013+29G>C http://identifiers.org/clinvar/256189 ^@ NM_000448.2(RAG1):c.2459A>G (p.Lys820Arg) http://identifiers.org/clinvar/258578 ^@ NM_002180.2(IGHMBP2):c.87-19A>G http://identifiers.org/clinvar/261418 ^@ NM_021625.4(TRPV4):c.2459-9T>G http://identifiers.org/clinvar/261468 ^@ NM_021957.3(GYS2):c.1701G>A (p.Leu567=) http://identifiers.org/clinvar/258228 ^@ NM_001844.4(COL2A1):c.2376C>A (p.Gly792=) http://identifiers.org/clinvar/256689 ^@ NM_000552.4(VWF):c.6099C>T (p.Tyr2033=) http://identifiers.org/clinvar/261068 ^@ NM_018979.3(WNK1):c.2529G>A (p.Gln843=) http://identifiers.org/clinvar/261618 ^@ NM_022489.3(INF2):c.3207A>G (p.Pro1069=) http://identifiers.org/clinvar/261018 ^@ NM_018139.2(DNAAF2):c.2007+15G>A http://identifiers.org/clinvar/258828 ^@ NM_002863.4(PYGL):c.*11delT http://identifiers.org/clinvar/255289 ^@ NM_000138.4(FBN1):c.261T>C (p.His87=) http://identifiers.org/clinvar/335654 ^@ NM_001029883.2(C2orf71):c.1740G>A (p.Thr580=) http://identifiers.org/clinvar/336004 ^@ NM_005633.3(SOS1):c.*766delA http://identifiers.org/clinvar/333463 ^@ NM_032977.3(CASP10):c.*1520C>T http://identifiers.org/clinvar/333563 ^@ NM_001044385.2(TMEM237):c.668G>A (p.Arg223Gln) http://identifiers.org/clinvar/333763 ^@ NM_005006.6(NDUFS1):c.*866A>C http://identifiers.org/clinvar/333813 ^@ NM_014929.3(FASTKD2):c.*399T>A http://identifiers.org/clinvar/333913 ^@ NM_015040.3(PIKFYVE):c.3122A>G (p.Tyr1041Cys) http://identifiers.org/clinvar/333613 ^@ NM_001005781.1(SUMO1):c.*26A>G http://identifiers.org/clinvar/333663 ^@ NM_001204.6(BMPR2):c.*700T>C http://identifiers.org/clinvar/337071 ^@ NM_004082.4(DCTN1):c.3547G>T (p.Ala1183Ser) http://identifiers.org/clinvar/337171 ^@ NM_000821.6(GGCX):c.*4996delT http://identifiers.org/clinvar/333863 ^@ NM_014929.3(FASTKD2):c.*4142T>C http://identifiers.org/clinvar/334164 ^@ NM_000384.2(APOB):c.2823A>G (p.Thr941=) http://identifiers.org/clinvar/334515 ^@ NM_015311.2(OBSL1):c.1884C>T (p.Tyr628=) http://identifiers.org/clinvar/337671 ^@ NM_001298.2(CNGA3):c.*60G>A http://identifiers.org/clinvar/334565 ^@ NM_181457.3(PAX3):c.-205C>T http://identifiers.org/clinvar/334415 ^@ NM_025216.2(WNT10A):c.1134C>T (p.Gly378=) http://identifiers.org/clinvar/342451 ^@ NM_000551.3(VHL):c.*1860A>G http://identifiers.org/clinvar/337121 ^@ NM_013247.4(HTRA2):c.-314G>A http://identifiers.org/clinvar/342501 ^@ NM_000551.3(VHL):c.*3389G>A http://identifiers.org/clinvar/342601 ^@ NM_000796.5(DRD3):c.302T>G (p.Ile101Ser) http://identifiers.org/clinvar/337221 ^@ NM_000821.6(GGCX):c.*2284C>G http://identifiers.org/clinvar/334665 ^@ NM_000092.4(COL4A4):c.*3159C>A http://identifiers.org/clinvar/342801 ^@ NM_000388.3(CASR):c.2824G>A (p.Glu942Lys) http://identifiers.org/clinvar/342901 ^@ NM_053025.3(MYLK):c.682G>A (p.Val228Met) http://identifiers.org/clinvar/343201 ^@ NM_014049.4(ACAD9):c.1415G>A (p.Arg472Gln) http://identifiers.org/clinvar/342551 ^@ NM_198196.2(CD96):c.*160C>T http://identifiers.org/clinvar/343451 ^@ NM_001063.3(TF):c.*81A>G http://identifiers.org/clinvar/343551 ^@ NM_004628.4(XPC):c.*618A>G http://identifiers.org/clinvar/335704 ^@ NM_004304.4(ALK):c.2175C>T (p.Ile725=) http://identifiers.org/clinvar/342751 ^@ NM_000187.3(HGD):c.307C>A (p.Pro103Thr) http://identifiers.org/clinvar/343751 ^@ NM_000096.3(CP):c.2697T>C (p.Val899=) http://identifiers.org/clinvar/342951 ^@ NM_000373.3(UMPS):c.*1153C>T http://identifiers.org/clinvar/343001 ^@ NM_000373.3(UMPS):c.*3258A>C http://identifiers.org/clinvar/343151 ^@ NM_004637.5(RAB7A):c.-204G>T http://identifiers.org/clinvar/350530 ^@ NM_001182.4(ALDH7A1):c.*2512G>A http://identifiers.org/clinvar/350830 ^@ NM_003060.3(SLC22A5):c.*957A>T http://identifiers.org/clinvar/354756 ^@ NM_020381.3(PDSS2):c.*829T>C http://identifiers.org/clinvar/350730 ^@ NM_001999.3(FBN2):c.*1315C>G http://identifiers.org/clinvar/350780 ^@ NM_001999.3(FBN2):c.3429C>A (p.Phe1143Leu) http://identifiers.org/clinvar/357796 ^@ NM_001851.4(COL9A1):c.*33C>A http://identifiers.org/clinvar/350980 ^@ NM_017415.2(KLHL3):c.*149G>A http://identifiers.org/clinvar/358096 ^@ NM_181714.3(LCA5):c.1181C>G (p.Thr394Arg) http://identifiers.org/clinvar/351030 ^@ NM_006790.2(MYOT):c.*98G>A http://identifiers.org/clinvar/351180 ^@ NM_199189.2(MATR3):c.*1999G>T http://identifiers.org/clinvar/351080 ^@ NM_001369.2(DNAH5):c.6018T>C (p.Cys2006=) http://identifiers.org/clinvar/358346 ^@ NM_198999.2(SLC26A5):c.2042-10C>T http://identifiers.org/clinvar/358546 ^@ NM_000111.2(SLC26A3):c.1234-11dupT http://identifiers.org/clinvar/351430 ^@ NM_054027.4(ANKH):c.*3664C>T http://identifiers.org/clinvar/351280 ^@ NM_005219.4(DIAPH1):c.*254G>A http://identifiers.org/clinvar/351330 ^@ NM_001018077.1(NR3C1):c.*2521T>A http://identifiers.org/clinvar/351530 ^@ NM_006846.3(SPINK5):c.2239T>C (p.Leu747=) http://identifiers.org/clinvar/358996 ^@ NM_005989.3(AKR1D1):c.*1363A>G http://identifiers.org/clinvar/356007 ^@ NM_004562.2(PRKN):c.*472T>C http://identifiers.org/clinvar/352030 ^@ NM_000112.3(SLC26A2):c.2021A>G (p.Tyr674Cys) http://identifiers.org/clinvar/352667 ^@ NM_000816.3(GABRG2):c.*1889C>A http://identifiers.org/clinvar/352617 ^@ NM_000806.5(GABRA1):c.*1601T>G http://identifiers.org/clinvar/352917 ^@ NM_022455.4(NSD1):c.*2395T>C http://identifiers.org/clinvar/357196 ^@ NM_012120.2(CD2AP):c.*494_*499delGTATAT http://identifiers.org/clinvar/357246 ^@ NM_000255.3(MUT):c.*257A>C http://identifiers.org/clinvar/357296 ^@ NM_003221.3(TFAP2B):c.*631A>G http://identifiers.org/clinvar/353117 ^@ NM_014244.4(ADAMTS2):c.1908C>T (p.His636=) http://identifiers.org/clinvar/357346 ^@ NM_003221.3(TFAP2B):c.*3772C>A http://identifiers.org/clinvar/357396 ^@ NM_138694.3(PKHD1):c.*760T>G http://identifiers.org/clinvar/357546 ^@ NM_001723.5(DST):c.7557G>A (p.Gln2519=) http://identifiers.org/clinvar/357646 ^@ NM_183227.2(RAB23):c.-23C>T http://identifiers.org/clinvar/357746 ^@ NM_001142800.1(EYS):c.632G>T (p.Cys211Phe) http://identifiers.org/clinvar/353317 ^@ NM_004172.4(SLC1A3):c.860+9T>C http://identifiers.org/clinvar/357846 ^@ NM_014989.5(RIMS1):c.2523A>G (p.Glu841=) http://identifiers.org/clinvar/353667 ^@ NM_000436.3(OXCT1):c.402G>T (p.Glu134Asp) http://identifiers.org/clinvar/353417 ^@ NM_023073.3(C5orf42):c.8931A>G (p.Ser2977=) http://identifiers.org/clinvar/353467 ^@ NM_023073.3(C5orf42):c.626A>G (p.Lys209Arg) http://identifiers.org/clinvar/353517 ^@ NM_000514.3(GDNF):c.*161_*163delGGA http://identifiers.org/clinvar/306190 ^@ NM_000260.3(MYO7A):c.5037G>A (p.Glu1679=) http://identifiers.org/clinvar/306240 ^@ NM_024698.5(SLC25A22):c.*845T>A http://identifiers.org/clinvar/363744 ^@ NM_018972.2(GDAP1):c.*1437A>C http://identifiers.org/clinvar/363794 ^@ NM_000318.2(PEX2):c.*1469_*1471delATT http://identifiers.org/clinvar/364044 ^@ NM_001001557.3(GDF6):c.957C>A (p.Ala319=) http://identifiers.org/clinvar/363944 ^@ NM_018444.3(PDP1):c.1446C>T (p.Leu482=) http://identifiers.org/clinvar/364244 ^@ NM_014425.4(INVS):c.*466_*469delCACA http://identifiers.org/clinvar/363994 ^@ NM_177965.3(C8orf37):c.*965C>G http://identifiers.org/clinvar/364294 ^@ NM_000035.3(ALDOB):c.*752C>G http://identifiers.org/clinvar/307280 ^@ NM_000192.3(TBX5):c.*856T>A http://identifiers.org/clinvar/307380 ^@ NM_005996.3(TBX3):c.-71A>G http://identifiers.org/clinvar/307680 ^@ NM_004064.4(CDKN1B):c.*452C>T http://identifiers.org/clinvar/307780 ^@ NM_006205.2(PDE6H):c.-59G>C http://identifiers.org/clinvar/307930 ^@ NM_006446.4(SLCO1B1):c.-104A>G http://identifiers.org/clinvar/307980 ^@ NM_021957.3(GYS2):c.*520A>G http://identifiers.org/clinvar/308430 ^@ NM_012062.4(DNM1L):c.*1624T>C http://identifiers.org/clinvar/308780 ^@ NM_020638.2(FGF23):c.*1383_*1385delTTC http://identifiers.org/clinvar/308880 ^@ NM_001017535.1(VDR):c.909C>T (p.Ala303=) http://identifiers.org/clinvar/301636 ^@ NM_006204.3(PDE6C):c.2037-13G>C http://identifiers.org/clinvar/365833 ^@ NM_052813.4(CARD9):c.1383G>A (p.Pro461=) http://identifiers.org/clinvar/366034 ^@ NM_024757.4(EHMT1):c.3803C>G (p.Ala1268Gly) http://identifiers.org/clinvar/366084 ^@ NM_144966.5(FREM1):c.*1024C>T http://identifiers.org/clinvar/365883 ^@ NM_019892.5(INPP5E):c.1384G>A (p.Ala462Thr) http://identifiers.org/clinvar/309819 ^@ NM_002905.3(RDH5):c.*148G>T http://identifiers.org/clinvar/365934 ^@ NM_006412.3(AGPAT2):c.182+6G>A http://identifiers.org/clinvar/366384 ^@ NM_003383.4(VLDLR):c.*595_*598dupTTAA http://identifiers.org/clinvar/309869 ^@ NM_012064.3(MIP):c.*774G>C http://identifiers.org/clinvar/365984 ^@ NM_016219.4(MAN1B1):c.*384A>G http://identifiers.org/clinvar/309919 ^@ NM_005379.3(MYO1A):c.641-12T>G http://identifiers.org/clinvar/302286 ^@ NM_000051.3(ATM):c.*2779delT http://identifiers.org/clinvar/309969 ^@ NM_000075.3(CDK4):c.*491C>T http://identifiers.org/clinvar/366434 ^@ NM_000459.4(TEK):c.1962A>G (p.Ser654=) http://identifiers.org/clinvar/366484 ^@ NM_001256054.2(C9orf72):c.*1469T>A http://identifiers.org/clinvar/310119 ^@ NM_001038.5(SCNN1A):c.*914A>G http://identifiers.org/clinvar/366134 ^@ NM_144966.5(FREM1):c.3471+11T>C http://identifiers.org/clinvar/310169 ^@ NM_002076.3(GNS):c.*2735C>T http://identifiers.org/clinvar/302536 ^@ NM_001558.3(IL10RA):c.96G>A (p.Val32=) http://identifiers.org/clinvar/366534 ^@ NM_001256054.2(C9orf72):c.-169dupG http://identifiers.org/clinvar/366184 ^@ NM_144966.5(FREM1):c.-166G>A http://identifiers.org/clinvar/310319 ^@ NM_000619.2(IFNG):c.*539A>G http://identifiers.org/clinvar/302586 ^@ NM_174934.3(SCN4B):c.*3004G>A http://identifiers.org/clinvar/366284 ^@ NM_002451.3(MTAP):c.*1729G>A http://identifiers.org/clinvar/302636 ^@ NM_174934.3(SCN4B):c.*680C>A http://identifiers.org/clinvar/366684 ^@ NM_012144.3(DNAI1):c.169T>C (p.Leu57=) http://identifiers.org/clinvar/302786 ^@ NM_005188.3(CBL):c.2096A>G (p.Glu699Gly) http://identifiers.org/clinvar/310619 ^@ NM_025114.3(CEP290):c.1549T>C (p.Leu517=) http://identifiers.org/clinvar/310824 ^@ NM_018979.3(WNK1):c.3845-14G>A http://identifiers.org/clinvar/366834 ^@ NM_005476.5(GNE):c.*630C>T http://identifiers.org/clinvar/366884 ^@ NM_001042413.1(GLIS3):c.*3776G>C http://identifiers.org/clinvar/310874 ^@ NM_004115.3(FGF14):c.*1063G>A http://identifiers.org/clinvar/366984 ^@ NM_001042413.1(GLIS3):c.1126C>T (p.Pro376Ser) http://identifiers.org/clinvar/366584 ^@ NM_175073.2(APTX):c.*606G>A http://identifiers.org/clinvar/321948 ^@ NM_017775.3(TTC19):c.781G>A (p.Glu261Lys) http://identifiers.org/clinvar/314373 ^@ NM_001040108.1(MLH3):c.3784C>T (p.Pro1262Ser) http://identifiers.org/clinvar/340562 ^@ NM_014339.6(IL17RA):c.20C>T (p.Pro7Leu) http://identifiers.org/clinvar/322048 ^@ NM_144997.5(FLCN):c.*557T>C http://identifiers.org/clinvar/340612 ^@ NM_014339.6(IL17RA):c.2466G>A (p.Gly822=) http://identifiers.org/clinvar/321998 ^@ NM_002615.6(SERPINF1):c.85-14C>T http://identifiers.org/clinvar/340662 ^@ NM_014339.6(IL17RA):c.*2662_*2668delATCTCTG http://identifiers.org/clinvar/340712 ^@ NM_014339.6(IL17RA):c.*4509A>G http://identifiers.org/clinvar/314773 ^@ NM_018418.4(SPATA7):c.-62G>A http://identifiers.org/clinvar/313723 ^@ NM_000347.5(SPTB):c.4837C>T (p.Pro1613Ser) http://identifiers.org/clinvar/315862 ^@ NM_144508.4(KNL1):c.4483A>C (p.Ser1495Arg) http://identifiers.org/clinvar/367902 ^@ NM_194277.2(FRMD7):c.*573G>T http://identifiers.org/clinvar/314123 ^@ NM_031427.3(DNAL1):c.*6144T>G http://identifiers.org/clinvar/315962 ^@ NM_173500.3(TTBK2):c.*967G>A http://identifiers.org/clinvar/368002 ^@ NM_000133.3(F9):c.1095A>G (p.Ser365=) http://identifiers.org/clinvar/316112 ^@ NM_025137.3(SPG11):c.737G>A (p.Cys246Tyr) http://identifiers.org/clinvar/316162 ^@ NM_014080.4(DUOX2):c.2676C>A (p.Asn892Lys) http://identifiers.org/clinvar/314323 ^@ NM_000428.2(LTBP2):c.-64C>T http://identifiers.org/clinvar/368352 ^@ NM_153380.3(ZNF41):c.*957A>G http://identifiers.org/clinvar/316362 ^@ NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) http://identifiers.org/clinvar/368452 ^@ NM_005710.2(PQBP1):c.-87C>T http://identifiers.org/clinvar/368552 ^@ NM_006306.3(SMC1A):c.*4645T>C http://identifiers.org/clinvar/316612 ^@ NM_004580.4(RAB27A):c.*1931T>C http://identifiers.org/clinvar/316712 ^@ NM_000942.4(PPIB):c.-136C>T http://identifiers.org/clinvar/368752 ^@ NM_021998.4(ZNF711):c.*188A>G http://identifiers.org/clinvar/315712 ^@ NM_005159.4(ACTC1):c.-23+15G>T http://identifiers.org/clinvar/316012 ^@ NM_000119.2(EPB42):c.1476C>T (p.Asn492=) http://identifiers.org/clinvar/316062 ^@ NM_201631.3(TGM5):c.282C>G (p.Thr94=) http://identifiers.org/clinvar/374404 ^@ NM_001008537.2(KIAA2022):c.1376_1377delGT (p.Cys459Terfs) http://identifiers.org/clinvar/374457 ^@ NM_006772.2(SYNGAP1):c.1285C>T (p.Arg429Trp) http://identifiers.org/clinvar/374507 ^@ NM_015120.4(ALMS1):c.8417dupC (p.Gln2808Serfs) http://identifiers.org/clinvar/374557 ^@ NM_000426.3(LAMA2):c.5530C>T (p.Arg1844Cys) http://identifiers.org/clinvar/374607 ^@ NM_000020.2(ACVRL1):c.1402_1403insTGCGGGAG (p.Trp472Glyfs) http://identifiers.org/clinvar/374657 ^@ NM_001349253.1(SCN11A):c.136G>A (p.Glu46Lys) http://identifiers.org/clinvar/374817 ^@ NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu) http://identifiers.org/clinvar/374867 ^@ NM_016233.2(PADI3):c.881C>T (p.Ala294Val) http://identifiers.org/clinvar/374933 ^@ NM_000380.3(XPA):c.648_649delGA (p.Lys217Glufs) http://identifiers.org/clinvar/374985 ^@ NM_022916.4(VPS33A):c.1492C>T (p.Arg498Trp) http://identifiers.org/clinvar/375265 ^@ NM_030665.3(RAI1):c.1748G>A (p.Ser583Asn) http://identifiers.org/clinvar/375319 ^@ NM_005215.3(DCC):c.3748G>A (p.Ala1250Thr) http://identifiers.org/clinvar/375370 ^@ NM_052867.2(NALCN):c.965T>C (p.Ile322Thr) http://identifiers.org/clinvar/375425 ^@ NM_001453.2(FOXC1):c.457A>C (p.Thr153Pro) http://identifiers.org/clinvar/375491 ^@ NM_001003694.1(BRPF1):c.1165T>C (p.Cys389Arg) http://identifiers.org/clinvar/375544 ^@ NW_003871103.3:g.1465326_1469426del4101 http://identifiers.org/clinvar/375609 ^@ NM_018713.2(SLC30A10):c.1006C>T (p.His336Tyr) http://identifiers.org/clinvar/375662 ^@ NM_000675.5(ADORA2A):c.-275+1797C>A http://identifiers.org/clinvar/375756 ^@ NM_000517.4:c.-alpha3.7 http://identifiers.org/clinvar/375806 ^@ NM_000527.4(LDLR):c.967G>T (p.Gly323Cys) http://identifiers.org/clinvar/375856 ^@ NM_000335.4(SCN5A):c.5665G>A (p.Glu1889Lys) http://identifiers.org/clinvar/375909 ^@ NM_000222.2(KIT):c.1669T>C (p.Trp557Arg) http://identifiers.org/clinvar/383763 ^@ NM_015120.4(ALMS1):c.9564C>T (p.Thr3188=) http://identifiers.org/clinvar/382260 ^@ NM_000551.3(VHL):c.225C>T (p.Ile75=) http://identifiers.org/clinvar/392441 ^@ NM_003494.3(DYSF):c.1493G>T (p.Gly498Val) http://identifiers.org/clinvar/393141 ^@ NM_003242.5(TGFBR2):c.1610G>A (p.Arg537His) http://identifiers.org/clinvar/387253 ^@ NM_015929.3(LIPT1):c.*15C>T http://identifiers.org/clinvar/383562 ^@ NM_000249.3(MLH1):c.2190T>C (p.Pro730=) http://identifiers.org/clinvar/382460 ^@ NM_015560.2(OPA1):c.2427T>C (p.Leu809=) http://identifiers.org/clinvar/380116 ^@ NM_000249.3(MLH1):c.918T>C (p.Asn306=) http://identifiers.org/clinvar/392191 ^@ NM_001813.2(CENPE):c.1520A>G (p.Tyr507Cys) http://identifiers.org/clinvar/377766 ^@ NM_183075.2(CYP2U1):c.1127-17T>C http://identifiers.org/clinvar/380868 ^@ NM_006514.3(SCN10A):c.4323A>G (p.Lys1441=) http://identifiers.org/clinvar/378168 ^@ NM_000179.2(MSH6):c.1989T>C (p.Thr663=) http://identifiers.org/clinvar/380818 ^@ NM_024582.4(FAT4):c.3687G>C (p.Val1229=) http://identifiers.org/clinvar/386453 ^@ NM_152778.2(MFSD8):c.-68C>T http://identifiers.org/clinvar/377866 ^@ NM_001999.3(FBN2):c.2989+20G>A http://identifiers.org/clinvar/385753 ^@ NM_022455.4(NSD1):c.684A>G (p.Pro228=) http://identifiers.org/clinvar/386653 ^@ NM_021911.2(GABRB2):c.60C>T (p.Ala20=) http://identifiers.org/clinvar/380066 ^@ NM_013391.3(DMGDH):c.1936T>C (p.Ser646Pro) http://identifiers.org/clinvar/383061 ^@ NM_001148.4(ANK2):c.11380C>T (p.Pro3794Ser) http://identifiers.org/clinvar/386053 ^@ NM_020745.3(AARS2):c.132C>T (p.Ala44=) http://identifiers.org/clinvar/392591 ^@ NM_033071.3(SYNE1):c.16772G>A (p.Arg5591His) http://identifiers.org/clinvar/382761 ^@ NM_002291.2(LAMB1):c.3300G>C (p.Thr1100=) http://identifiers.org/clinvar/392341 ^@ NM_000238.3(KCNH2):c.1929C>A (p.Cys643Ter) http://identifiers.org/clinvar/380919 ^@ NM_002291.2(LAMB1):c.2869G>A (p.Asp957Asn) http://identifiers.org/clinvar/384163 ^@ NM_001458.4(FLNC):c.5055G>A (p.Pro1685=) http://identifiers.org/clinvar/383612 ^@ NM_000083.2(CLCN1):c.-14C>A http://identifiers.org/clinvar/382009 ^@ NM_001999.3(FBN2):c.1167C>T (p.Cys389=) http://identifiers.org/clinvar/382611 ^@ NM_016203.3(PRKAG2):c.186+20A>C http://identifiers.org/clinvar/383963 ^@ NM_021911.2(GABRB2):c.285G>A (p.Arg95=) http://identifiers.org/clinvar/378574 ^@ NM_015046.5(SETX):c.23C>T (p.Thr8Met) http://identifiers.org/clinvar/391441 ^@ NM_000722.3(CACNA2D1):c.1735-17G>A http://identifiers.org/clinvar/377716 ^@ NM_000089.3(COL1A2):c.2140C>T (p.Arg714Cys) http://identifiers.org/clinvar/378372 ^@ NM_000445.4(PLEC):c.3541C>T (p.Arg1181Trp) http://identifiers.org/clinvar/384463 ^@ NM_023110.2(FGFR1):c.1386G>A (p.Glu462=) http://identifiers.org/clinvar/384313 ^@ NM_016042.3(EXOSC3):c.757A>G (p.Ile253Val) http://identifiers.org/clinvar/133752 ^@ NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) http://identifiers.org/clinvar/133802 ^@ NM_032415.5(CARD11):c.3139G>A (p.Ala1047Thr) http://identifiers.org/clinvar/133852 ^@ NM_004360.4(CDH1):c.289C>G (p.His97Asp) http://identifiers.org/clinvar/133902 ^@ NM_015125.4(CIC):c.1573G>A (p.Gly525Ser) http://identifiers.org/clinvar/133952 ^@ NM_001904.3(CTNNB1):c.45A>C (p.Glu15Asp) http://identifiers.org/clinvar/134002 ^@ NM_001077706.2(ECT2L):c.2479C>T (p.Arg827Trp) http://identifiers.org/clinvar/134054 ^@ NM_001429.3(EP300):c.6907C>G (p.Leu2303Val) http://identifiers.org/clinvar/134104 ^@ NM_000400.3(ERCC2):c.2128G>A (p.Val710Met) http://identifiers.org/clinvar/134154 ^@ NM_005236.2(ERCC4):c.1711C>T (p.His571Tyr) http://identifiers.org/clinvar/134204 ^@ NM_207122.1(EXT2):c.1760C>T (p.Thr587Met) http://identifiers.org/clinvar/134254 ^@ NM_000135.2(FANCA):c.2426G>A (p.Gly809Asp) http://identifiers.org/clinvar/134305 ^@ NM_000136.2(FANCC):c.584A>T (p.Asp195Val) http://identifiers.org/clinvar/134356 ^@ NM_022725.3(FANCF):c.153T>A (p.His51Gln) http://identifiers.org/clinvar/134406 ^@ NM_000142.4(FGFR3):c.1765C>G (p.Leu589Val) http://identifiers.org/clinvar/134456 ^@ NM_003902.4(FUBP1):c.992G>A (p.Arg331Gln) http://identifiers.org/clinvar/134506 ^@ NM_000545.6(HNF1A):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/134556 ^@ NM_004972.3(JAK2):c.3288T>A (p.Asp1096Glu) http://identifiers.org/clinvar/134606 ^@ NM_002253.2(KDR):c.2066C>T (p.Thr689Met) http://identifiers.org/clinvar/134657 ^@ NM_000249.3(MLH1):c.721A>G (p.Lys241Glu) http://identifiers.org/clinvar/134709 ^@ NM_003482.3(KMT2D):c.9482T>C (p.Met3161Thr) http://identifiers.org/clinvar/134759 ^@ NM_170606.2(KMT2C):c.5809C>G (p.Gln1937Glu) http://identifiers.org/clinvar/134809 ^@ NM_170606.2(KMT2C):c.12370A>G (p.Met4124Val) http://identifiers.org/clinvar/134862 ^@ NM_001128425.1(MUTYH):c.1037C>T (p.Ser346Leu) http://identifiers.org/clinvar/134913 ^@ NM_017617.4(NOTCH1):c.2192G>A (p.Arg731Gln) http://identifiers.org/clinvar/134963 ^@ NM_024408.3(NOTCH2):c.2585C>T (p.Ala862Val) http://identifiers.org/clinvar/135013 ^@ NM_006206.4(PDGFRA):c.1700_1701delCAinsTG (p.Pro567Leu) http://identifiers.org/clinvar/135064 ^@ NM_000535.6(PMS2):c.1234A>G (p.Lys412Glu) http://identifiers.org/clinvar/135115 ^@ NM_000321.2(RB1):c.59C>T (p.Pro20Leu) http://identifiers.org/clinvar/135166 ^@ NM_004260.3(RECQL4):c.1090G>A (p.Val364Met) http://identifiers.org/clinvar/136096 ^@ NM_020975.4(RET):c.1182C>T (p.Asn394=) http://identifiers.org/clinvar/136146 ^@ NM_032043.2(BRIP1):c.2061G>C (p.Val687=) http://identifiers.org/clinvar/184638 ^@ NM_002878.3(RAD51D):c.510G>A (p.Val170=) http://identifiers.org/clinvar/187539 ^@ NM_007294.3(BRCA1):c.1237T>C (p.Leu413=) http://identifiers.org/clinvar/186989 ^@ NM_032043.2(BRIP1):c.3571A>G (p.Ile1191Val) http://identifiers.org/clinvar/183937 ^@ NM_032043.2(BRIP1):c.3027A>G (p.Gly1009=) http://identifiers.org/clinvar/183988 ^@ NM_032043.2(BRIP1):c.312T>G (p.Thr104=) http://identifiers.org/clinvar/183887 ^@ NM_005359.5(SMAD4):c.21G>A (p.Thr7=) http://identifiers.org/clinvar/187793 ^@ NM_005215.3(DCC):c.2407G>A (p.Gly803Arg) http://identifiers.org/clinvar/187872 ^@ NM_005957.4(MTHFR):c.337G>A (p.Ala113Thr) http://identifiers.org/clinvar/187922 ^@ NM_004409.4(DMPK):c.*224_*226[135] http://identifiers.org/clinvar/187972 ^@ NM_004409.4(DMPK):c.*224_*226[376] http://identifiers.org/clinvar/188022 ^@ NM_004409.4(DMPK):c.*224_*226[69] http://identifiers.org/clinvar/188225 ^@ NM_016630.6(SPG21):c.526A>G (p.Met176Val) http://identifiers.org/clinvar/188072 ^@ NM_007294.3(BRCA1):c.1925A>G (p.Asp642Gly) http://identifiers.org/clinvar/188123 ^@ NM_058216.2(RAD51C):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/188279 ^@ NM_005359.5(SMAD4):c.521C>A (p.Thr174Asn) http://identifiers.org/clinvar/188174 ^@ NM_000166.5(GJB1):c.425G>A (p.Arg142Gln) http://identifiers.org/clinvar/189907 ^@ NM_001165963.1(SCN1A):c.5082T>G (p.Tyr1694Ter) http://identifiers.org/clinvar/190007 ^@ NM_001165963.1(SCN1A):c.4549A>T (p.Lys1517Ter) http://identifiers.org/clinvar/189857 ^@ NM_001165963.1(SCN1A):c.2584C>T (p.Arg862Ter) http://identifiers.org/clinvar/189957 ^@ NM_001165963.1(SCN1A):c.2537A>G (p.Glu846Gly) http://identifiers.org/clinvar/190128 ^@ NM_015723.4(PNPLA8):c.2275_2276delCT (p.Leu759Alafs) http://identifiers.org/clinvar/190192 ^@ NM_001110556.1(FLNA):c.4006delG (p.Asp1336Thrfs) http://identifiers.org/clinvar/190248 ^@ NM_198270.3(NHS):c.852delG (p.Ser285Profs) http://identifiers.org/clinvar/190326 ^@ NM_004974.3(KCNA2):c.788T>C (p.Ile263Thr) http://identifiers.org/clinvar/190379 ^@ NM_000183.2(HADHB):c.1175C>T (p.Ala392Val) http://identifiers.org/clinvar/227949 ^@ NM_000441.1(SLC26A4):c.147C>G (p.Ser49Arg) http://identifiers.org/clinvar/227318 ^@ NM_001277115.1(DNAH11):c.12708T>C (p.Asn4236=) http://identifiers.org/clinvar/227418 ^@ NM_024915.3(GRHL2):c.816A>G (p.Lys272=) http://identifiers.org/clinvar/227217 ^@ NM_022124.5(CDH23):c.1680C>T (p.Thr560=) http://identifiers.org/clinvar/227067 ^@ NM_001098668.3(SFTPA2):c.271G>C (p.Ala91Pro) http://identifiers.org/clinvar/227899 ^@ NM_002906.3(RDX):c.1548C>T (p.Thr516=) http://identifiers.org/clinvar/226866 ^@ NM_001277269.1(OTOG):c.2074T>C (p.Ser692Pro) http://identifiers.org/clinvar/227798 ^@ NM_001277269.1(OTOG):c.7729+14A>T http://identifiers.org/clinvar/226916 ^@ NM_001277269.1(OTOG):c.8249G>A (p.Arg2750Gln) http://identifiers.org/clinvar/227848 ^@ NM_004572.3(PKP2):c.2400C>T (p.Asn800=) http://identifiers.org/clinvar/227548 ^@ NM_198080.3(MSRB3):c.54C>T (p.Cys18=) http://identifiers.org/clinvar/226966 ^@ NM_173591.3(OTOGL):c.6220A>G (p.Ile2074Val) http://identifiers.org/clinvar/227598 ^@ NM_000257.3(MYH7):c.5019C>T (p.Ile1673=) http://identifiers.org/clinvar/227748 ^@ NM_144672.3(OTOA):c.1821G>A (p.Ala607=) http://identifiers.org/clinvar/227648 ^@ NM_016239.3(MYO15A):c.6691+6dupC http://identifiers.org/clinvar/227698 ^@ NM_003803.3(MYOM1):c.2656A>G (p.Ser886Gly) http://identifiers.org/clinvar/226816 ^@ NM_003803.3(MYOM1):c.290+14C>G http://identifiers.org/clinvar/227518 ^@ NM_144612.6(LOXHD1):c.3561G>A (p.Lys1187=) http://identifiers.org/clinvar/226716 ^@ NM_144612.6(LOXHD1):c.3090G>A (p.Thr1030=) http://identifiers.org/clinvar/227167 ^@ NM_001614.3(ACTG1):c.390G>A (p.Pro130=) http://identifiers.org/clinvar/234766 ^@ NM_002977.3(SCN9A):c.4474A>T (p.Lys1492Ter) http://identifiers.org/clinvar/234816 ^@ NM_000052.6(ATP7A):c.3521A>T (p.Asn1174Ile) http://identifiers.org/clinvar/230790 ^@ NM_000465.3(BARD1):c.1979G>T (p.Ser660Ile) http://identifiers.org/clinvar/231329 ^@ NM_000179.2(MSH6):c.1171T>C (p.Phe391Leu) http://identifiers.org/clinvar/230540 ^@ NM_000179.2(MSH6):c.1938G>A (p.Lys646=) http://identifiers.org/clinvar/263513 ^@ NM_020433.4(JPH2):c.476T>A (p.Leu159Gln) http://identifiers.org/clinvar/263815 ^@ NM_030777.3(SLC2A10):c.315C>T (p.Arg105=) http://identifiers.org/clinvar/266633 ^@ NM_000059.3(BRCA2):c.1404_1413delAGATGAAGAG (p.Arg468Serfs) http://identifiers.org/clinvar/266983 ^@ NM_000059.3(BRCA2):c.7033C>T (p.Gln2345Ter) http://identifiers.org/clinvar/266533 ^@ NM_007294.3(BRCA1):c.5209dupA (p.Arg1737Lysfs) http://identifiers.org/clinvar/266483 ^@ NM_007294.3(BRCA1):c.4569_4572delATCT (p.Ser1524Lysfs) http://identifiers.org/clinvar/266433 ^@ NM_007294.3(BRCA1):c.4042G>T (p.Gly1348Ter) http://identifiers.org/clinvar/266333 ^@ NM_007294.3(BRCA1):c.3087_3100dupTAACATTAGAGAAA (p.Asn1034Ilefs) http://identifiers.org/clinvar/266283 ^@ NM_007294.3(BRCA1):c.2587delG (p.Val863Phefs) http://identifiers.org/clinvar/266233 ^@ NM_007294.3(BRCA1):c.2194delGinsAA (p.Glu732Lysfs) http://identifiers.org/clinvar/266183 ^@ NM_007294.3(BRCA1):c.1723G>T (p.Glu575Ter) http://identifiers.org/clinvar/266133 ^@ NM_007294.3(BRCA1):c.1044_1045insTCAC (p.Glu349Serfs) http://identifiers.org/clinvar/266583 ^@ NM_007294.3(BRCA1):c.829_830delAA (p.Asn277Tyrfs) http://identifiers.org/clinvar/266383 ^@ NM_007294.3(BRCA1):c.355A>T (p.Lys119Ter) http://identifiers.org/clinvar/268125 ^@ NM_018263.5(ASXL2):c.2472delC (p.Ser825Valfs) http://identifiers.org/clinvar/268193 ^@ NC_000015.9:g.(?_100388548)_(100492097_?)del http://identifiers.org/clinvar/279605 ^@ NM_030813.5(CLPB):c.805G>A (p.Ala269Thr) http://identifiers.org/clinvar/291428 ^@ NM_001918.3(DBT):c.*3027A>G http://identifiers.org/clinvar/291478 ^@ NM_001854.3(COL11A1):c.*1105C>T http://identifiers.org/clinvar/291528 ^@ NM_001854.3(COL11A1):c.1899+3A>G http://identifiers.org/clinvar/291720 ^@ NM_005272.3(GNAT2):c.609G>T (p.Gly203=) http://identifiers.org/clinvar/291620 ^@ NM_015074.3(KIF1B):c.*2268C>T http://identifiers.org/clinvar/291870 ^@ NM_013319.2(UBIAD1):c.*18C>T http://identifiers.org/clinvar/291670 ^@ NM_015074.3(KIF1B):c.*4958G>A http://identifiers.org/clinvar/291820 ^@ NM_013319.2(UBIAD1):c.60A>C (p.Lys20Asn) http://identifiers.org/clinvar/292170 ^@ NM_005957.4(MTHFR):c.*3963G>C http://identifiers.org/clinvar/291970 ^@ NM_002524.4(NRAS):c.*583T>G http://identifiers.org/clinvar/291770 ^@ NM_007375.3(TARDBP):c.*2773A>G http://identifiers.org/clinvar/292020 ^@ NM_138959.2(VANGL1):c.*313A>G http://identifiers.org/clinvar/292370 ^@ NM_014874.3(MFN2):c.-4-13G>T http://identifiers.org/clinvar/292070 ^@ NM_138959.2(VANGL1):c.*3666G>A http://identifiers.org/clinvar/292120 ^@ NM_001232.3(CASQ2):c.*632G>C http://identifiers.org/clinvar/291920 ^@ NM_003051.3(SLC16A1):c.-290_-285dupGGCGGC http://identifiers.org/clinvar/292220 ^@ NM_005957.4(MTHFR):c.*543G>A http://identifiers.org/clinvar/292270 ^@ NM_000198.3(HSD3B2):c.*96C>G http://identifiers.org/clinvar/292320 ^@ NM_006623.3(PHGDH):c.1285G>C (p.Gly429Arg) http://identifiers.org/clinvar/293209 ^@ NM_002857.3(PEX19):c.*1163T>C http://identifiers.org/clinvar/293359 ^@ NM_003001.3(SDHC):c.*1843C>A http://identifiers.org/clinvar/293809 ^@ NM_003000.2(SDHB):c.700C>T (p.Leu234=) http://identifiers.org/clinvar/293859 ^@ NM_033343.3(LHX4):c.83C>T (p.Pro28Leu) http://identifiers.org/clinvar/293659 ^@ NM_152281.2(GORAB):c.732C>T (p.Tyr244=) http://identifiers.org/clinvar/293709 ^@ NM_000261.1(MYOC):c.1041T>C (p.Tyr347=) http://identifiers.org/clinvar/293959 ^@ NM_002065.6(GLUL):c.-304G>A http://identifiers.org/clinvar/294059 ^@ NM_005562.2(LAMC2):c.*1674T>A http://identifiers.org/clinvar/293259 ^@ NM_000309.3(PPOX):c.1248+4A>G http://identifiers.org/clinvar/294159 ^@ NM_031935.2(HMCN1):c.4998T>C (p.Ala1666=) http://identifiers.org/clinvar/293309 ^@ NM_000530.7(MPZ):c.*251C>G http://identifiers.org/clinvar/294259 ^@ NM_031935.2(HMCN1):c.13040-3C>T http://identifiers.org/clinvar/293409 ^@ NM_004431.4(EPHA2):c.2514A>G (p.Thr838=) http://identifiers.org/clinvar/294459 ^@ NM_024529.4(CDC73):c.*3257A>G http://identifiers.org/clinvar/294509 ^@ NM_000186.3(CFH):c.2808G>T (p.Glu936Asp) http://identifiers.org/clinvar/294559 ^@ NM_030787.3(CFHR5):c.*619G>A http://identifiers.org/clinvar/294709 ^@ NM_000069.2(CACNA1S):c.4954C>T (p.Arg1652Cys) http://identifiers.org/clinvar/293759 ^@ NM_022089.3(ATP13A2):c.*243A>C http://identifiers.org/clinvar/294809 ^@ NM_001005337.2(PKP1):c.605G>A (p.Arg202His) http://identifiers.org/clinvar/294759 ^@ NM_000069.2(CACNA1S):c.1725C>T (p.Leu575=) http://identifiers.org/clinvar/294909 ^@ NM_003465.2(CHIT1):c.1351C>T (p.Pro451Ser) http://identifiers.org/clinvar/294959 ^@ NM_000537.3(REN):c.492+3A>G http://identifiers.org/clinvar/293909 ^@ NM_002065.6(GLUL):c.*1594_*1595delAA http://identifiers.org/clinvar/344440 ^@ NM_006580.3(CLDN16):c.-82A>G http://identifiers.org/clinvar/343651 ^@ NM_000935.2(PLOD2):c.382A>G (p.Lys128Glu) http://identifiers.org/clinvar/344590 ^@ NM_000461.4(THRB):c.*2576_*2579dupATTG http://identifiers.org/clinvar/344890 ^@ NM_006371.4(CRTAP):c.*4705G>T http://identifiers.org/clinvar/344940 ^@ NM_001106.3(ACVR2B):c.*1041A>C http://identifiers.org/clinvar/345240 ^@ NM_016006.4(ABHD5):c.*1417A>G http://identifiers.org/clinvar/344490 ^@ NM_015560.2(OPA1):c.*260G>T http://identifiers.org/clinvar/345390 ^@ NM_020208.3(SLC6A20):c.*537T>C http://identifiers.org/clinvar/345490 ^@ NM_024513.3(FYCO1):c.*176C>T http://identifiers.org/clinvar/344990 ^@ NM_001106.3(ACVR2B):c.*4610A>G http://identifiers.org/clinvar/345040 ^@ NM_001106.3(ACVR2B):c.*9084T>G http://identifiers.org/clinvar/346140 ^@ NM_052859.3(RFT1):c.*2995C>T http://identifiers.org/clinvar/345290 ^@ NM_182760.3(SUMF1):c.*836C>G http://identifiers.org/clinvar/337571 ^@ NM_014014.4(SNRNP200):c.-58C>G http://identifiers.org/clinvar/337621 ^@ NM_001079.3(ZAP70):c.-177C>A http://identifiers.org/clinvar/337521 ^@ NM_014014.4(SNRNP200):c.*101A>G http://identifiers.org/clinvar/345340 ^@ NM_020208.3(SLC6A20):c.*3519G>A http://identifiers.org/clinvar/345440 ^@ NM_024513.3(FYCO1):c.*3439A>T http://identifiers.org/clinvar/342401 ^@ NM_000551.3(VHL):c.-30C>T http://identifiers.org/clinvar/345540 ^@ NM_024513.3(FYCO1):c.647C>T (p.Ser216Phe) http://identifiers.org/clinvar/345640 ^@ NM_015175.2(NBEAL2):c.2473+7A>G http://identifiers.org/clinvar/345690 ^@ NM_015175.2(NBEAL2):c.7407G>A (p.Pro2469=) http://identifiers.org/clinvar/345790 ^@ NM_000094.3(COL7A1):c.8631C>A (p.Ser2877=) http://identifiers.org/clinvar/347129 ^@ NM_005327.4(HADH):c.-38T>C http://identifiers.org/clinvar/342651 ^@ NM_020754.3(ARHGAP31):c.1926+5A>G http://identifiers.org/clinvar/342701 ^@ NM_020754.3(ARHGAP31):c.*1533T>C http://identifiers.org/clinvar/342851 ^@ NM_053025.3(MYLK):c.*419C>T http://identifiers.org/clinvar/347379 ^@ NM_003619.3(PRSS12):c.*764A>G http://identifiers.org/clinvar/346190 ^@ NM_052859.3(RFT1):c.827-14T>C http://identifiers.org/clinvar/347529 ^@ NM_152778.2(MFSD8):c.*1161A>C http://identifiers.org/clinvar/347579 ^@ NM_031296.2(RAB33B):c.*776C>T http://identifiers.org/clinvar/343051 ^@ NM_015869.4(PPARG):c.1509C>T (p.Asp503=) http://identifiers.org/clinvar/347629 ^@ NM_172250.2(MMAA):c.*1779T>C http://identifiers.org/clinvar/343101 ^@ NM_002880.3(RAF1):c.*160C>T http://identifiers.org/clinvar/343351 ^@ NM_014382.3(ATP2C1):c.*1839A>G http://identifiers.org/clinvar/347929 ^@ NM_000824.4(GLRB):c.1385C>T (p.Ala462Val) http://identifiers.org/clinvar/343251 ^@ NM_052985.3(IFT122):c.2334C>T (p.Thr778=) http://identifiers.org/clinvar/343301 ^@ NM_000539.3(RHO):c.*887G>C http://identifiers.org/clinvar/348029 ^@ NM_001166108.1(PALLD):c.366T>G (p.Pro122=) http://identifiers.org/clinvar/343401 ^@ NM_003571.3(BFSP2):c.246T>C (p.Ser82=) http://identifiers.org/clinvar/343501 ^@ NM_024334.2(TMEM43):c.207G>A (p.Ser69=) http://identifiers.org/clinvar/343701 ^@ NM_032383.4(HPS3):c.1152C>T (p.His384=) http://identifiers.org/clinvar/343601 ^@ NM_001184.3(ATR):c.5349G>T (p.Gln1783His) http://identifiers.org/clinvar/353567 ^@ NM_002310.5(LIFR):c.*2910G>A http://identifiers.org/clinvar/361905 ^@ NM_012472.5(LRRC6):c.131G>A (p.Arg44Gln) http://identifiers.org/clinvar/358196 ^@ NM_183050.3(BCKDHB):c.*994G>A http://identifiers.org/clinvar/362005 ^@ NM_003235.4(TG):c.8202C>T (p.Gly2734=) http://identifiers.org/clinvar/353717 ^@ NM_000163.4(GHR):c.*2042A>G http://identifiers.org/clinvar/353767 ^@ NM_002203.3(ITGA2):c.2483C>T (p.Thr828Met) http://identifiers.org/clinvar/362055 ^@ NM_031466.7(TRAPPC9):c.*285A>C http://identifiers.org/clinvar/362105 ^@ NM_000497.3(CYP11B1):c.*1770A>T http://identifiers.org/clinvar/362155 ^@ NM_000497.3(CYP11B1):c.954+9G>C http://identifiers.org/clinvar/358446 ^@ NM_006348.3(COG5):c.*468C>A http://identifiers.org/clinvar/354706 ^@ NM_001491.2(GCNT2):c.630T>G (p.Gly210=) http://identifiers.org/clinvar/363144 ^@ NM_152419.2(HGSNAT):c.906A>T (p.Gln302His) http://identifiers.org/clinvar/363244 ^@ NM_005914.3(MCM4):c.*358T>C http://identifiers.org/clinvar/363444 ^@ NM_017780.3(CHD7):c.892A>G (p.Thr298Ala) http://identifiers.org/clinvar/363494 ^@ NM_017780.3(CHD7):c.*338delG http://identifiers.org/clinvar/355407 ^@ NM_006208.2(ENPP1):c.*2737C>T http://identifiers.org/clinvar/355257 ^@ NM_000426.3(LAMA2):c.2323-7T>G http://identifiers.org/clinvar/363844 ^@ NM_019098.4(CNGB3):c.*1639C>A http://identifiers.org/clinvar/363894 ^@ NM_002485.4(NBN):c.*1869_*1872delTTTT http://identifiers.org/clinvar/355307 ^@ NM_000426.3(LAMA2):c.9328G>A (p.Glu3110Lys) http://identifiers.org/clinvar/355357 ^@ NM_006208.2(ENPP1):c.*112G>A http://identifiers.org/clinvar/355657 ^@ NM_003764.3(STX11):c.*3780C>T http://identifiers.org/clinvar/355457 ^@ NM_172105.3(EYA4):c.*1658C>T http://identifiers.org/clinvar/355707 ^@ NM_203395.2(IYD):c.*1066C>T http://identifiers.org/clinvar/355507 ^@ NM_017651.4(AHI1):c.1680A>G (p.Pro560=) http://identifiers.org/clinvar/355607 ^@ NM_003764.3(STX11):c.*179A>G http://identifiers.org/clinvar/355857 ^@ NM_033071.3(SYNE1):c.16618C>T (p.Arg5540Trp) http://identifiers.org/clinvar/355757 ^@ NM_203395.2(IYD):c.*3892G>A http://identifiers.org/clinvar/356057 ^@ NM_198586.2(NHLRC1):c.*875T>A http://identifiers.org/clinvar/355807 ^@ NM_033071.3(SYNE1):c.25860T>C (p.Asp8620=) http://identifiers.org/clinvar/356157 ^@ NM_001080.3(ALDH5A1):c.*960C>T http://identifiers.org/clinvar/355907 ^@ NM_033071.3(SYNE1):c.7734-11C>T http://identifiers.org/clinvar/356107 ^@ NM_000367.4(TPMT):c.*501G>C http://identifiers.org/clinvar/356457 ^@ NM_021922.2(FANCE):c.*322C>T http://identifiers.org/clinvar/356607 ^@ NM_005943.5(MOCS1):c.*2102A>C http://identifiers.org/clinvar/356257 ^@ NM_000063.5(C2):c.1922T>C (p.Val641Ala) http://identifiers.org/clinvar/356307 ^@ NM_006929.4(SKIV2L):c.-43T>C http://identifiers.org/clinvar/365733 ^@ NM_000093.4(COL5A1):c.5263G>A (p.Ala1755Thr) http://identifiers.org/clinvar/365783 ^@ NM_000093.4(COL5A1):c.*1853_*1856dupACAA http://identifiers.org/clinvar/366234 ^@ NM_002451.3(MTAP):c.-5C>G http://identifiers.org/clinvar/367134 ^@ NM_004972.3(JAK2):c.3076C>A (p.Leu1026Met) http://identifiers.org/clinvar/366934 ^@ NM_001042413.1(GLIS3):c.*1602T>G http://identifiers.org/clinvar/298487 ^@ NM_021830.4(TWNK):c.-549G>A http://identifiers.org/clinvar/304225 ^@ NM_000218.2(KCNQ1):c.1393+31361T>A http://identifiers.org/clinvar/298687 ^@ NM_000494.3(COL17A1):c.4088T>C (p.Leu1363Ser) http://identifiers.org/clinvar/364094 ^@ NM_000380.3(XPA):c.-88C>A http://identifiers.org/clinvar/364144 ^@ NM_004612.3(TGFBR1):c.*2279T>C http://identifiers.org/clinvar/364194 ^@ NM_004612.3(TGFBR1):c.*4809A>T http://identifiers.org/clinvar/304475 ^@ NM_003477.2(PDHX):c.*114A>G http://identifiers.org/clinvar/298537 ^@ NM_022039.3(FBXW4):c.261-12G>T http://identifiers.org/clinvar/304575 ^@ NM_207122.1(EXT2):c.245A>C (p.Asp82Ala) http://identifiers.org/clinvar/304625 ^@ NM_021926.3(ALX4):c.*3033G>A http://identifiers.org/clinvar/313423 ^@ NM_172337.2(OTX2):c.-135_-132delTTTG http://identifiers.org/clinvar/313673 ^@ NM_182914.2(SYNE2):c.*133C>A http://identifiers.org/clinvar/313773 ^@ NM_000347.5(SPTB):c.947C>T (p.Thr316Ile) http://identifiers.org/clinvar/305075 ^@ NM_001173990.2(TMEM216):c.-91G>A http://identifiers.org/clinvar/314023 ^@ NM_031427.3(DNAL1):c.*170C>A http://identifiers.org/clinvar/305227 ^@ NM_144585.3(SLC22A12):c.-45C>G http://identifiers.org/clinvar/314223 ^@ NM_182894.2(VSX2):c.*1347G>A http://identifiers.org/clinvar/305427 ^@ NM_053054.3(CATSPER1):c.1542G>A (p.Leu514=) http://identifiers.org/clinvar/305477 ^@ NM_024649.4(BBS1):c.*473C>T http://identifiers.org/clinvar/305527 ^@ NM_006946.2(SPTBN2):c.6757G>A (p.Gly2253Arg) http://identifiers.org/clinvar/314673 ^@ NM_004863.3(SPTLC2):c.763C>T (p.Leu255=) http://identifiers.org/clinvar/314723 ^@ NM_000369.2(TSHR):c.*1742G>T http://identifiers.org/clinvar/314823 ^@ NM_018319.3(TDP1):c.19T>C (p.Tyr7His) http://identifiers.org/clinvar/306391 ^@ NM_012193.3(FZD4):c.*779G>A http://identifiers.org/clinvar/315762 ^@ NM_152594.2(SPRED1):c.*2831G>A http://identifiers.org/clinvar/315912 ^@ NM_138477.2(CDAN1):c.*349A>G http://identifiers.org/clinvar/329335 ^@ NM_030578.3(B9D2):c.*200T>G http://identifiers.org/clinvar/317952 ^@ NM_001287.5(CLCN7):c.1098+11C>G http://identifiers.org/clinvar/310019 ^@ NM_001172696.1(TSFM):c.877G>C (p.Asp293His) http://identifiers.org/clinvar/329785 ^@ NM_000146.3(FTL):c.-46C>A http://identifiers.org/clinvar/318204 ^@ NM_014714.3(IFT140):c.778C>T (p.Pro260Ser) http://identifiers.org/clinvar/318304 ^@ NM_000548.4(TSC2):c.226-4A>G http://identifiers.org/clinvar/310419 ^@ NM_001131025.1(PEX5):c.551+15C>T http://identifiers.org/clinvar/310469 ^@ NM_024685.3(BBS10):c.*1241_*1244delTTAT http://identifiers.org/clinvar/318904 ^@ NM_006662.2(SRCAP):c.8463C>T (p.Pro2821=) http://identifiers.org/clinvar/319054 ^@ NM_003041.3(SLC5A2):c.389G>A (p.Arg130His) http://identifiers.org/clinvar/319104 ^@ NM_000243.2(MEFV):c.*280G>C http://identifiers.org/clinvar/310774 ^@ NM_003276.2(TMPO):c.*39G>C http://identifiers.org/clinvar/310924 ^@ NM_000123.3(ERCC5):c.1641C>T (p.Asn547=) http://identifiers.org/clinvar/338021 ^@ NM_006899.4(IDH3B):c.684G>A (p.Leu228=) http://identifiers.org/clinvar/338171 ^@ NM_006892.3(DNMT3B):c.1674T>C (p.Tyr558=) http://identifiers.org/clinvar/319605 ^@ NM_002968.2(SALL1):c.2557T>G (p.Ser853Ala) http://identifiers.org/clinvar/338521 ^@ NM_000308.3(CTSA):c.-52G>A http://identifiers.org/clinvar/338571 ^@ NM_001250.5(CD40):c.256+8C>T http://identifiers.org/clinvar/338621 ^@ NM_030777.3(SLC2A10):c.*1162C>T http://identifiers.org/clinvar/338772 ^@ NM_020436.4(SALL4):c.2130G>A (p.Thr710=) http://identifiers.org/clinvar/320394 ^@ NM_000353.2(TAT):c.*682T>C http://identifiers.org/clinvar/339022 ^@ NM_004738.4(VAPB):c.*6354G>A http://identifiers.org/clinvar/320494 ^@ NM_024306.4(FA2H):c.1030C>G (p.Gln344Glu) http://identifiers.org/clinvar/320794 ^@ NM_001451.2(FOXF1):c.1081G>A (p.Gly361Arg) http://identifiers.org/clinvar/313573 ^@ NM_182914.2(SYNE2):c.12492+12C>T http://identifiers.org/clinvar/320944 ^@ NM_001127464.2(ZNF469):c.5613C>T (p.Ser1871=) http://identifiers.org/clinvar/339611 ^@ NM_000933.3(PLCB4):c.*1202G>A http://identifiers.org/clinvar/339711 ^@ NM_000628.4(IL10RB):c.*796T>C http://identifiers.org/clinvar/339761 ^@ NM_000219.5(KCNE1):c.*493C>T http://identifiers.org/clinvar/313873 ^@ NM_015346.3(ZFYVE26):c.7586C>G (p.Pro2529Arg) http://identifiers.org/clinvar/313923 ^@ NM_015346.3(ZFYVE26):c.763C>T (p.Arg255Trp) http://identifiers.org/clinvar/339911 ^@ NM_000411.6(HLCS):c.*3226delT http://identifiers.org/clinvar/339961 ^@ NM_000411.6(HLCS):c.1502G>A (p.Arg501Gln) http://identifiers.org/clinvar/314073 ^@ NM_031427.3(DNAL1):c.*3356delT http://identifiers.org/clinvar/340111 ^@ NM_000394.3(CRYAA):c.*398G>A http://identifiers.org/clinvar/340311 ^@ NM_001848.2(COL6A1):c.958-10C>T http://identifiers.org/clinvar/326496 ^@ NM_001943.4(DSG2):c.*238T>G http://identifiers.org/clinvar/326846 ^@ NM_144612.6(LOXHD1):c.3847G>A (p.Glu1283Lys) http://identifiers.org/clinvar/367852 ^@ NM_001167.3(XIAP):c.*5519delT http://identifiers.org/clinvar/367952 ^@ NM_003413.3(ZIC3):c.-479C>T http://identifiers.org/clinvar/328735 ^@ NM_001031726.3(C19orf12):c.-47G>C http://identifiers.org/clinvar/368052 ^@ NM_000033.3(ABCD1):c.*10C>T http://identifiers.org/clinvar/328835 ^@ NM_021175.3(HAMP):c.-67G>C http://identifiers.org/clinvar/327146 ^@ NM_005359.5(SMAD4):c.*2707_*2711delCTTTA http://identifiers.org/clinvar/327296 ^@ NM_001083962.1(TCF4):c.*726T>C http://identifiers.org/clinvar/329085 ^@ NM_000540.2(RYR1):c.9093C>T (p.Ala3031=) http://identifiers.org/clinvar/368402 ^@ NM_007137.3(ZNF81):c.*211G>A http://identifiers.org/clinvar/329185 ^@ NM_033064.4(ATCAY):c.*1542C>T http://identifiers.org/clinvar/368502 ^@ NM_000084.4(CLCN5):c.*1874G>A http://identifiers.org/clinvar/329385 ^@ NM_001022.3(RPS19):c.-139C>T http://identifiers.org/clinvar/368702 ^@ NM_153252.4(BRWD3):c.*3483G>A http://identifiers.org/clinvar/329485 ^@ NM_212550.4(BLOC1S3):c.*465A>T http://identifiers.org/clinvar/329635 ^@ NM_025136.3(OPA3):c.*2702G>T http://identifiers.org/clinvar/329735 ^@ NM_000554.5(CRX):c.*1122G>C http://identifiers.org/clinvar/330035 ^@ NM_144687.3(NLRP12):c.956C>G (p.Pro319Arg) http://identifiers.org/clinvar/328785 ^@ NM_000285.3(PEPD):c.1365C>T (p.Val455=) http://identifiers.org/clinvar/328885 ^@ NM_004646.3(NPHS1):c.-57G>T http://identifiers.org/clinvar/328985 ^@ NM_000540.2(RYR1):c.-102C>T http://identifiers.org/clinvar/337921 ^@ NM_198994.2(TGM6):c.1103G>A (p.Arg368Gln) http://identifiers.org/clinvar/338071 ^@ NM_015338.5(ASXL1):c.-92C>A http://identifiers.org/clinvar/338271 ^@ NM_000687.3(AHCY):c.918C>T (p.Ile306=) http://identifiers.org/clinvar/338321 ^@ NM_000557.4(GDF5):c.497C>A (p.Pro166His) http://identifiers.org/clinvar/329435 ^@ NM_152296.4(ATP1A3):c.-64A>G http://identifiers.org/clinvar/329535 ^@ NM_202001.2(ERCC1):c.525+9G>A http://identifiers.org/clinvar/329685 ^@ NM_025136.3(OPA3):c.444C>T (p.Ala148=) http://identifiers.org/clinvar/338721 ^@ NM_006420.2(ARFGEF2):c.*1304C>T http://identifiers.org/clinvar/338822 ^@ NM_000782.4(CYP24A1):c.990+3A>G http://identifiers.org/clinvar/338872 ^@ NM_002591.3(PCK1):c.203G>T (p.Arg68Leu) http://identifiers.org/clinvar/338922 ^@ NM_004738.4(VAPB):c.-189C>T http://identifiers.org/clinvar/329835 ^@ NM_002103.4(GYS1):c.-172T>C http://identifiers.org/clinvar/329885 ^@ NM_030973.3(MED25):c.1483-13G>C http://identifiers.org/clinvar/329935 ^@ NM_024729.3(MYH14):c.3748G>T (p.Val1250Leu) http://identifiers.org/clinvar/329985 ^@ NM_144687.3(NLRP12):c.*395C>T http://identifiers.org/clinvar/337721 ^@ NM_000214.2(JAG1):c.*1206delT http://identifiers.org/clinvar/337771 ^@ NM_000214.2(JAG1):c.-386dupG http://identifiers.org/clinvar/337821 ^@ NM_024411.4(PDYN):c.*700_*703delGACT http://identifiers.org/clinvar/340011 ^@ NM_020639.2(RIPK4):c.2250G>A (p.Thr750=) http://identifiers.org/clinvar/337871 ^@ NM_000361.2(THBD):c.*351A>G http://identifiers.org/clinvar/337971 ^@ NM_014588.5(VSX1):c.60C>T (p.Gly20=) http://identifiers.org/clinvar/340161 ^@ NM_000211.4(ITGB2):c.906A>G (p.Pro302=) http://identifiers.org/clinvar/340261 ^@ NM_130445.3(COL18A1):c.2890C>T (p.Pro964Ser) http://identifiers.org/clinvar/340411 ^@ NM_006657.2(FTCD):c.*1C>T http://identifiers.org/clinvar/340461 ^@ NM_006031.5(PCNT):c.513G>C (p.Met171Ile) http://identifiers.org/clinvar/338371 ^@ NM_153638.3(PANK2):c.*541C>T http://identifiers.org/clinvar/338421 ^@ NM_005461.4(MAFB):c.-338A>G http://identifiers.org/clinvar/340511 ^@ NM_006031.5(PCNT):c.5960A>T (p.Asp1987Val) http://identifiers.org/clinvar/338471 ^@ NM_000457.4(HNF4A):c.*2533G>A http://identifiers.org/clinvar/340812 ^@ NM_017929.5(PEX26):c.*2452G>C http://identifiers.org/clinvar/340912 ^@ NM_003073.4(SMARCB1):c.607G>A (p.Ala203Thr) http://identifiers.org/clinvar/339661 ^@ NM_000454.4(SOD1):c.-84C>G http://identifiers.org/clinvar/339861 ^@ NM_001754.4(RUNX1):c.*587T>A http://identifiers.org/clinvar/391541 ^@ NM_007327.3(GRIN1):c.2443+14C>T http://identifiers.org/clinvar/381019 ^@ NM_004329.2(BMPR1A):c.-268+20G>A http://identifiers.org/clinvar/377566 ^@ NM_004329.2(BMPR1A):c.1230C>T (p.Pro410=) http://identifiers.org/clinvar/387003 ^@ NM_001003800.1(BICD2):c.2258+15G>C http://identifiers.org/clinvar/386903 ^@ NM_000238.3(KCNH2):c.-13-15G>A http://identifiers.org/clinvar/382711 ^@ NM_000136.2(FANCC):c.1254C>T (p.Pro418=) http://identifiers.org/clinvar/392691 ^@ NM_017617.4(NOTCH1):c.5018+13C>T http://identifiers.org/clinvar/380417 ^@ NM_000051.3(ATM):c.4910-7T>A http://identifiers.org/clinvar/377516 ^@ NM_000051.3(ATM):c.5005+15T>A http://identifiers.org/clinvar/384764 ^@ NG_017041.1:g.4945C>G http://identifiers.org/clinvar/378473 ^@ NM_001134363.2(RBM20):c.1659G>A (p.Ser553=) http://identifiers.org/clinvar/381219 ^@ NM_004517.3(ILK):c.-105A>G http://identifiers.org/clinvar/391491 ^@ NM_001613.2(ACTA2):c.515C>T (p.Ala172Val) http://identifiers.org/clinvar/392741 ^@ NM_000445.4(PLEC):c.7426C>T (p.Arg2476Trp) http://identifiers.org/clinvar/385653 ^@ NM_020987.4(ANK3):c.6320C>G (p.Thr2107Ser) http://identifiers.org/clinvar/392991 ^@ NM_032578.3(MYPN):c.2756G>T (p.Arg919Leu) http://identifiers.org/clinvar/377666 ^@ NM_000742.3(CHRNA2):c.1059C>T (p.His353=) http://identifiers.org/clinvar/380969 ^@ NM_002834.4(PTPN11):c.138-4T>G http://identifiers.org/clinvar/392291 ^@ NM_000051.3(ATM):c.4731T>A (p.Thr1577=) http://identifiers.org/clinvar/386153 ^@ NM_032790.3(ORAI1):c.576G>A (p.Val192=) http://identifiers.org/clinvar/393041 ^@ NM_017780.3(CHD7):c.4851-7T>G http://identifiers.org/clinvar/383712 ^@ NM_006231.3(POLE):c.510C>A (p.Ile170=) http://identifiers.org/clinvar/378068 ^@ NM_006059.3(LAMC3):c.2039C>T (p.Thr680Met) http://identifiers.org/clinvar/382210 ^@ NM_001273.3(CHD4):c.4902G>T (p.Glu1634Asp) http://identifiers.org/clinvar/377966 ^@ NM_000545.6(HNF1A):c.*5G>A http://identifiers.org/clinvar/377415 ^@ NM_020297.3(ABCC9):c.4344T>C (p.Asn1448=) http://identifiers.org/clinvar/384413 ^@ NM_001376.4(DYNC1H1):c.8658A>G (p.Gln2886=) http://identifiers.org/clinvar/384664 ^@ NM_006231.3(POLE):c.3363C>T (p.Asp1121=) http://identifiers.org/clinvar/378423 ^@ NM_153026.2(PRICKLE1):c.1629C>T (p.Ser543=) http://identifiers.org/clinvar/391641 ^@ NM_000719.6(CACNA1C):c.3822A>G (p.Lys1274=) http://identifiers.org/clinvar/377616 ^@ NM_000719.6(CACNA1C):c.6339C>T (p.Asp2113=) http://identifiers.org/clinvar/380467 ^@ NM_001844.4(COL2A1):c.1221+20G>C http://identifiers.org/clinvar/379966 ^@ NM_004092.3(ECHS1):c.582T>C (p.Thr194=) http://identifiers.org/clinvar/391391 ^@ NM_014191.3(SCN8A):c.4438T>A (p.Phe1480Ile) http://identifiers.org/clinvar/381369 ^@ NM_005159.4(ACTC1):c.*5C>G http://identifiers.org/clinvar/382310 ^@ NM_000059.3(BRCA2):c.6756T>C (p.Ser2252=) http://identifiers.org/clinvar/381319 ^@ NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) http://identifiers.org/clinvar/384363 ^@ NM_004329.2(BMPR1A):c.1342+7G>A http://identifiers.org/clinvar/380768 ^@ NM_007347.4(AP4E1):c.222+18G>A http://identifiers.org/clinvar/377816 ^@ NM_001376.4(DYNC1H1):c.1587C>T (p.Asn529=) http://identifiers.org/clinvar/381419 ^@ NM_024537.3(CARS2):c.1681A>G (p.Lys561Glu) http://identifiers.org/clinvar/393191 ^@ NM_020778.4(ALPK3):c.2752G>A (p.Ala918Thr) http://identifiers.org/clinvar/388292 ^@ NM_005050.3(ABCD4):c.502C>A (p.Pro168Thr) http://identifiers.org/clinvar/378016 ^@ NM_000218.2(KCNQ1):c.780+11C>T http://identifiers.org/clinvar/377916 ^@ NM_001482.2(GATM):c.885C>A (p.Ser295=) http://identifiers.org/clinvar/382410 ^@ NM_153603.3(COG7):c.405C>T (p.Ser135=) http://identifiers.org/clinvar/378318 ^@ NM_024675.3(PALB2):c.2034A>G (p.Leu678=) http://identifiers.org/clinvar/382811 ^@ NM_005902.3(SMAD3):c.658+18C>A http://identifiers.org/clinvar/381069 ^@ NM_002180.2(IGHMBP2):c.*3G>A http://identifiers.org/clinvar/388242 ^@ NM_005050.3(ABCD4):c.354C>T (p.His118=) http://identifiers.org/clinvar/388392 ^@ NM_145239.2(PRRT2):c.-57G>A http://identifiers.org/clinvar/386703 ^@ NM_005881.3(BCKDK):c.943G>C (p.Asp315His) http://identifiers.org/clinvar/381169 ^@ NM_019109.4(ALG1):c.1092C>G (p.Val364=) http://identifiers.org/clinvar/383512 ^@ NM_052845.3(MMAB):c.421+14T>A http://identifiers.org/clinvar/382510 ^@ NM_004360.4(CDH1):c.2121T>C (p.Ile707=) http://identifiers.org/clinvar/378218 ^@ NM_000432.3(MYL2):c.275-7G>A http://identifiers.org/clinvar/391891 ^@ NM_012463.3(ATP6V0A2):c.795G>A (p.Gly265=) http://identifiers.org/clinvar/380216 ^@ NM_006231.3(POLE):c.5707C>T (p.Leu1903=) http://identifiers.org/clinvar/383161 ^@ NM_006231.3(POLE):c.4236C>T (p.Asn1412=) http://identifiers.org/clinvar/380717 ^@ NM_000548.4(TSC2):c.2147C>T (p.Ser716Phe) http://identifiers.org/clinvar/392141 ^@ NM_002693.2(POLG):c.3046G>A (p.Glu1016Lys) http://identifiers.org/clinvar/47518 ^@ NM_133378.4(TTN):c.84338C>A (p.Ala28113Asp) http://identifiers.org/clinvar/47568 ^@ NM_133378.4(TTN):c.88548A>G (p.Thr29516=) http://identifiers.org/clinvar/47618 ^@ NM_133378.4(TTN):c.91964G>A (p.Arg30655His) http://identifiers.org/clinvar/47668 ^@ NM_133378.4(TTN):c.96660C>T (p.Ser32220=) http://identifiers.org/clinvar/47718 ^@ NM_133378.4(TTN):c.99563T>C (p.Val33188Ala) http://identifiers.org/clinvar/47768 ^@ NM_133379.4(TTN):c.14026A>G (p.Ile4676Val) http://identifiers.org/clinvar/47818 ^@ NM_001256850.1(TTN):c.11224G>T (p.Gly3742Cys) http://identifiers.org/clinvar/47868 ^@ NM_138691.2(TMC1):c.2144A>T (p.Tyr715Phe) http://identifiers.org/clinvar/47918 ^@ NM_144612.6(LOXHD1):c.1571G>A (p.Arg524His) http://identifiers.org/clinvar/47968 ^@ NM_152594.2(SPRED1):c.377-10A>G http://identifiers.org/clinvar/48020 ^@ NM_005709.3(USH1C):c.587G>A (p.Arg196Gln) http://identifiers.org/clinvar/48070 ^@ NM_170707.3(LMNA):c.607G>A (p.Glu203Lys) http://identifiers.org/clinvar/48120 ^@ NM_000337.5(SGCD):c.507G>A (p.Ala169=) http://identifiers.org/clinvar/48170 ^@ NM_194248.2(OTOF):c.1469C>G (p.Pro490Arg) http://identifiers.org/clinvar/48220 ^@ NM_194248.2(OTOF):c.3628C>A (p.Arg1210=) http://identifiers.org/clinvar/48270 ^@ NM_194248.2(OTOF):c.5813+15G>A http://identifiers.org/clinvar/48321 ^@ NM_201555.1(FHL2):c.192C>T (p.Ala64=) http://identifiers.org/clinvar/48371 ^@ NM_206933.2(USH2A):c.11389+15delG http://identifiers.org/clinvar/48421 ^@ NM_206933.2(USH2A):c.13704C>T (p.Phe4568=) http://identifiers.org/clinvar/48471 ^@ NM_206933.2(USH2A):c.1606T>C (p.Cys536Arg) http://identifiers.org/clinvar/116 ^@ NM_015932.5(POMP):c.-95delC http://identifiers.org/clinvar/130 ^@ NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) http://identifiers.org/clinvar/271 ^@ NM_001134363.2(RBM20):c.1907G>A (p.Arg636His) http://identifiers.org/clinvar/280 ^@ NM_001159772.1(CANT1):c.899G>A (p.Arg300His) http://identifiers.org/clinvar/327 ^@ NM_144573.3(NEXN):c.1831C>A (p.Pro611Thr) http://identifiers.org/clinvar/570 ^@ NM_024120.4(NDUFAF5):c.686T>C (p.Leu229Pro) http://identifiers.org/clinvar/611 ^@ NM_000277.1(PAH):c.165delT (p.Phe55Leufs) http://identifiers.org/clinvar/620 ^@ NM_000277.1(PAH):c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del) http://identifiers.org/clinvar/675 ^@ NM_000312.3(PROC):c.793C>T (p.Leu265Phe) http://identifiers.org/clinvar/824 ^@ NM_000038.5(APC):c.1495C>T (p.Arg499Ter) http://identifiers.org/clinvar/861 ^@ NM_013319.2(UBIAD1):c.335A>G (p.Asp112Gly) http://identifiers.org/clinvar/1061 ^@ NM_018122.4(DARS2):c.455G>T (p.Cys152Phe) http://identifiers.org/clinvar/1138 ^@ NM_001142617.1(STRA6):c.961A>C (p.Thr321Pro) http://identifiers.org/clinvar/1204 ^@ NM_000429.2(MAT1A):c.1070C>T (p.Pro357Leu) http://identifiers.org/clinvar/1255 ^@ NM_022356.3(P3H1):c.747delC (p.Tyr250Metfs) http://identifiers.org/clinvar/1345 ^@ NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) http://identifiers.org/clinvar/1391 ^@ NM_017777.3(MKS1):c.1024+1G>A http://identifiers.org/clinvar/1436 ^@ NM_015697.7(COQ2):c.890A>G (p.Tyr297Cys) http://identifiers.org/clinvar/1481 ^@ HMBS, 1-BP DEL, -154G http://identifiers.org/clinvar/1527 ^@ NM_000237.2(LPL):c.701C>T (p.Pro234Leu) http://identifiers.org/clinvar/2068 ^@ NM_018100.3(EFHC1):c.520A>G (p.Ile174Val) http://identifiers.org/clinvar/2113 ^@ NM_003477.2(PDHX):c.87_90delGAAG (p.Lys30Glyfs) http://identifiers.org/clinvar/2159 ^@ NM_017929.5(PEX26):c.230+1G>T http://identifiers.org/clinvar/2205 ^@ NM_031935.2(HMCN1):c.16034A>G (p.Gln5345Arg) http://identifiers.org/clinvar/2250 ^@ NCF1, 1-BP DEL, 502G http://identifiers.org/clinvar/2296 ^@ NM_015046.5(SETX):c.1027G>T (p.Glu343Ter) http://identifiers.org/clinvar/2341 ^@ NM_130468.3(CHST14):c.205A>T (p.Lys69Ter) http://identifiers.org/clinvar/2388 ^@ NM_000045.3(ARG1):c.871C>T (p.Arg291Ter) http://identifiers.org/clinvar/2432 ^@ NM_153006.2(NAGS):c.1289T>C (p.Leu430Pro) http://identifiers.org/clinvar/2478 ^@ NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) http://identifiers.org/clinvar/2524 ^@ NM_001130969.1(NSMF):c.1438A>G (p.Thr480Ala) http://identifiers.org/clinvar/2571 ^@ NM_006493.2(CLN5):c.713-42_*46del600 http://identifiers.org/clinvar/2617 ^@ NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) http://identifiers.org/clinvar/2663 ^@ NM_182760.3(SUMF1):c.519+5_519+8delGTAA http://identifiers.org/clinvar/2755 ^@ LEMD3, 1609C-T http://identifiers.org/clinvar/2845 ^@ NM_000019.3(ACAT1):c.997G>C (p.Ala333Pro) http://identifiers.org/clinvar/2891 ^@ NM_000419.4(ITGA2B):c.2621T>G (p.Ile874Ser) http://identifiers.org/clinvar/2936 ^@ NM_002076.3(GNS):c.1226dupG (p.Ser410Ilefs) http://identifiers.org/clinvar/2982 ^@ NM_000543.4(SMPD1):c.1735G>A (p.Gly579Ser) http://identifiers.org/clinvar/3027 ^@ NM_000051.3(ATM):c.3118A>G (p.Met1040Val) http://identifiers.org/clinvar/3076 ^@ ARSA, IVS4DS, G-A, +1 http://identifiers.org/clinvar/3123 ^@ NM_000218.2(KCNQ1):c.940G>A (p.Gly314Ser) http://identifiers.org/clinvar/3176 ^@ NM_138477.2(CDAN1):c.3124C>T (p.Arg1042Trp) http://identifiers.org/clinvar/3220 ^@ NM_013382.5(POMT2):c.1261delC (p.Arg421Glyfs) http://identifiers.org/clinvar/3314 ^@ NM_000383.3(AIRE):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/10565 ^@ F9, ARG-1SER http://identifiers.org/clinvar/10655 ^@ F9, 17747G-C http://identifiers.org/clinvar/10700 ^@ NM_203475.2(PORCN):c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs) http://identifiers.org/clinvar/10746 ^@ NM_000169.2(GLA):c.369+2T>G http://identifiers.org/clinvar/10791 ^@ NM_152692.4(C1GALT1C1):c.202C>T (p.Arg68Ter) http://identifiers.org/clinvar/10836 ^@ NM_000054.4(AVPR2):c.395C>A (p.Ala132Asp) http://identifiers.org/clinvar/10881 ^@ NM_000284.3(PDHA1):c.773A>C (p.Asp258Ala) http://identifiers.org/clinvar/10927 ^@ NM_000397.3(CYBB):c.911C>G (p.Pro304Arg) http://identifiers.org/clinvar/10973 ^@ NM_000475.4(NR0B1):c.1138T>G (p.Tyr380Asp) http://identifiers.org/clinvar/11017 ^@ NM_001184880.1(PCDH19):c.253C>T (p.Gln85Ter) http://identifiers.org/clinvar/11062 ^@ NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) http://identifiers.org/clinvar/11107 ^@ TAZ, IVS3DS, G-A, +110 http://identifiers.org/clinvar/11152 ^@ NM_000390.3(CHM):c.1584_1587delTGTT (p.Val529Hisfs) http://identifiers.org/clinvar/11199 ^@ NM_139058.2(ARX):c.856G>A (p.Gly286Ser) http://identifiers.org/clinvar/11243 ^@ NM_004006.2(DMD):c.748G>T (p.Glu250Ter) http://identifiers.org/clinvar/11289 ^@ DMD, IVS2, T-A, +5591 http://identifiers.org/clinvar/11333 ^@ NM_001109878.1(TBX22):c.166G>T (p.Glu56Ter) http://identifiers.org/clinvar/11438 ^@ NM_003413.3(ZIC3):c.1213A>G (p.Lys405Glu) http://identifiers.org/clinvar/11540 ^@ NM_003611.2(OFD1):c.413-10T>G http://identifiers.org/clinvar/11590 ^@ DKC1, IVS1, C-G, +592 http://identifiers.org/clinvar/11640 ^@ NM_006517.4(SLC16A2):c.1121C>A (p.Ser374Ter) http://identifiers.org/clinvar/11691 ^@ NM_004484.3(GPC3):c.1705G>A (p.Ala569Thr) http://identifiers.org/clinvar/11742 ^@ NM_000489.4(ATRX):c.109C>T (p.Arg37Ter) http://identifiers.org/clinvar/11793 ^@ NM_000052.6(ATP7A):c.601C>T (p.Arg201Ter) http://identifiers.org/clinvar/11843 ^@ NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) http://identifiers.org/clinvar/11893 ^@ F11, IVS9AS, A-G, -2 http://identifiers.org/clinvar/11943 ^@ NM_001918.3(DBT):c.827T>G (p.Phe276Cys) http://identifiers.org/clinvar/11995 ^@ NM_002863.4(PYGL):c.1131C>G (p.Asn377Lys) http://identifiers.org/clinvar/12045 ^@ NM_000136.2(FANCC):c.456+4A>T http://identifiers.org/clinvar/12095 ^@ NM_000196.3(HSD11B2):c.1009C>T (p.Arg337Cys) http://identifiers.org/clinvar/12145 ^@ NM_024649.4(BBS1):c.432+1G>A http://identifiers.org/clinvar/12199 ^@ NM_003380.3(VIM):c.451G>A (p.Glu151Lys) http://identifiers.org/clinvar/12251 ^@ nsv513771 http://identifiers.org/clinvar/12302 ^@ NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg) http://identifiers.org/clinvar/12353 ^@ NM_000546.5(TP53):c.469G>T (p.Val157Phe) http://identifiers.org/clinvar/12404 ^@ NM_000548.4(TSC2):c.2713C>T (p.Arg905Trp) http://identifiers.org/clinvar/12456 ^@ NM_001018005.1(TPM1):c.523G>A (p.Asp175Asn) http://identifiers.org/clinvar/12506 ^@ NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe) http://identifiers.org/clinvar/12859 ^@ NM_003126.2(SPTA1):c.2373C>A (p.Asp791Glu) http://identifiers.org/clinvar/12910 ^@ NM_152296.4(ATP1A3):c.821T>C (p.Ile274Thr) http://identifiers.org/clinvar/12960 ^@ NM_001035.2(RYR2):c.6982C>T (p.Pro2328Ser) http://identifiers.org/clinvar/36646 ^@ NM_000432.3(MYL2):c.381G>A (p.Ala127=) http://identifiers.org/clinvar/36698 ^@ NM_016203.3(PRKAG2):c.879C>A (p.Phe293Leu) http://identifiers.org/clinvar/36751 ^@ NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) http://identifiers.org/clinvar/36802 ^@ NM_000545.6(HNF1A):c.1502-7C>T http://identifiers.org/clinvar/36852 ^@ NM_000458.3(HNF1B):c.73G>T (p.Val25Leu) http://identifiers.org/clinvar/36903 ^@ NM_000551.3(VHL):c.458T>A (p.Leu153Gln) http://identifiers.org/clinvar/36975 ^@ NM_001098486.1(SLC17A3):c.911T>C (p.Phe304Ser) http://identifiers.org/clinvar/37076 ^@ PTCH1, TRP129TER http://identifiers.org/clinvar/37845 ^@ NM_000059.3(BRCA2):c.353G>A (p.Arg118His) http://identifiers.org/clinvar/37897 ^@ NM_000059.3(BRCA2):c.4357A>G (p.Lys1453Glu) http://identifiers.org/clinvar/37951 ^@ NM_000059.3(BRCA2):c.5213_5216delCTTA (p.Thr1738Ilefs) http://identifiers.org/clinvar/38003 ^@ NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) http://identifiers.org/clinvar/38058 ^@ NM_000059.3(BRCA2):c.663T>G (p.Phe221Leu) http://identifiers.org/clinvar/38108 ^@ NM_000059.3(BRCA2):c.7598C>G (p.Ser2533Cys) http://identifiers.org/clinvar/38158 ^@ NM_000059.3(BRCA2):c.8378G>T (p.Gly2793Val) http://identifiers.org/clinvar/38208 ^@ NM_000059.3(BRCA2):c.9097dupA (p.Thr3033Asnfs) http://identifiers.org/clinvar/38258 ^@ NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) http://identifiers.org/clinvar/38320 ^@ NM_000168.5(GLI3):c.2799C>G (p.Tyr933Ter) http://identifiers.org/clinvar/38377 ^@ NM_005211.3(CSF1R):c.2324T>A (p.Ile775Asn) http://identifiers.org/clinvar/38432 ^@ NM_024312.4(GNPTAB):c.616_619delACAG (p.Thr206Tyrfs) http://identifiers.org/clinvar/38580 ^@ NM_000060.4(BTD):c.1394dupG (p.Leu466Serfs) http://identifiers.org/clinvar/38760 ^@ c1949-?_2395+?del http://identifiers.org/clinvar/38872 ^@ NM_000288.3(PEX7):c.854A>G (p.His285Arg) http://identifiers.org/clinvar/38934 ^@ NM_001363.4(DKC1):c.1150C>T (p.Pro384Ser) http://identifiers.org/clinvar/38985 ^@ NM_004614.4(TK2):c.335_336dupAT (p.Val113Metfs) http://identifiers.org/clinvar/39036 ^@ NM_024312.4(GNPTAB):c.1519C>T (p.Gln507Ter) http://identifiers.org/clinvar/39086 ^@ NM_024312.4(GNPTAB):c.648_651delAGAA (p.Glu217Serfs) http://identifiers.org/clinvar/39143 ^@ NM_198578.3(LRRK2):c.2022A>C (p.Val674=) http://identifiers.org/clinvar/39193 ^@ NM_198578.3(LRRK2):c.4624C>T (p.Pro1542Ser) http://identifiers.org/clinvar/39243 ^@ NM_198578.3(LRRK2):c.825T= (p.His275=) http://identifiers.org/clinvar/39294 ^@ NR_001566.1(TERC):n.391_392delCC http://identifiers.org/clinvar/39457 ^@ NM_001111.4(ADAR):c.3337G>C (p.Asp1113His) http://identifiers.org/clinvar/39508 ^@ MEOX1, ARG222TER http://identifiers.org/clinvar/39558 ^@ NM_019032.5(ADAMTSL4):c.239delC (p.Pro80Argfs) http://identifiers.org/clinvar/39609 ^@ NM_001101426.3(ISPD):c.638T>G (p.Met213Arg) http://identifiers.org/clinvar/39660 ^@ NM_000834.3(GRIN2B):c.1677G>A (p.Trp559Ter) http://identifiers.org/clinvar/53242 ^@ NM_000492.3(CFTR):c.1393-1G>A http://identifiers.org/clinvar/53292 ^@ NM_000492.3(CFTR):c.1585G>C (p.Asp529His) http://identifiers.org/clinvar/53343 ^@ NM_000492.3(CFTR):c.168delA (p.Glu56Aspfs) http://identifiers.org/clinvar/53393 ^@ NM_000492.3(CFTR):c.1807G>T (p.Val603Phe) http://identifiers.org/clinvar/53445 ^@ NM_000492.3(CFTR):c.2158C>T (p.Gln720Ter) http://identifiers.org/clinvar/53498 ^@ NM_000492.3(CFTR):c.2491-11C>T http://identifiers.org/clinvar/53548 ^@ NM_000492.3(CFTR):c.2723C>A (p.Thr908Asn) http://identifiers.org/clinvar/53598 ^@ NM_000492.3(CFTR):c.2918T>C (p.Leu973Pro) http://identifiers.org/clinvar/53650 ^@ NM_000492.3(CFTR):c.3103C>T (p.Gln1035Ter) http://identifiers.org/clinvar/53701 ^@ NM_000492.3(CFTR):c.3278T>C (p.Leu1093Pro) http://identifiers.org/clinvar/53751 ^@ NM_000492.3(CFTR):c.3469-17T>C http://identifiers.org/clinvar/53802 ^@ NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) http://identifiers.org/clinvar/53856 ^@ NM_000492.3(CFTR):c.3929G>A (p.Trp1310Ter) http://identifiers.org/clinvar/53907 ^@ NM_000492.3(CFTR):c.4163T>A (p.Leu1388Gln) http://identifiers.org/clinvar/53957 ^@ NM_000492.3(CFTR):c.463G>C (p.Ala155Pro) http://identifiers.org/clinvar/54007 ^@ NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) http://identifiers.org/clinvar/54057 ^@ NM_000492.3(CFTR):c.775delCinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu259Serfs) http://identifiers.org/clinvar/54109 ^@ NM_007294.3(BRCA1):c.1058G>A (p.Trp353Ter) http://identifiers.org/clinvar/54159 ^@ NM_007294.3(BRCA1):c.1193C>A (p.Ser398Ter) http://identifiers.org/clinvar/54209 ^@ NM_007294.3(BRCA1):c.134+1G>T http://identifiers.org/clinvar/54461 ^@ NM_007294.3(BRCA1):c.2109A>G (p.Thr703=) http://identifiers.org/clinvar/54511 ^@ NM_007294.3(BRCA1):c.2241dupC (p.Lys748Glnfs) http://identifiers.org/clinvar/54561 ^@ NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) http://identifiers.org/clinvar/54611 ^@ NM_007294.3(BRCA1):c.2591C>T (p.Ser864Leu) http://identifiers.org/clinvar/54661 ^@ NM_007294.3(BRCA1):c.2727_2730delTCAA (p.Asn909Lysfs) http://identifiers.org/clinvar/55510 ^@ NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro) http://identifiers.org/clinvar/55560 ^@ NM_007294.3(BRCA1):c.5406+1_5406+3delGTA http://identifiers.org/clinvar/55610 ^@ NM_007294.3(BRCA1):c.5512delG (p.Val1838Cysfs) http://identifiers.org/clinvar/55662 ^@ NM_007294.3(BRCA1):c.671-1G>A http://identifiers.org/clinvar/55713 ^@ NM_007294.3(BRCA1):c.800C>G (p.Ser267Ter) http://identifiers.org/clinvar/55764 ^@ NM_007294.3(BRCA1):c.959_960delGA (p.Arg320Metfs) http://identifiers.org/clinvar/55836 ^@ NM_018979.3(WNK1):c.3516A>G (p.Ile1172Met) http://identifiers.org/clinvar/55914 ^@ NM_207037.1(TCF12):c.1646delA (p.Lys549Argfs) http://identifiers.org/clinvar/55972 ^@ NM_000111.2(SLC26A3):c.1403A>T (p.Asp468Val) http://identifiers.org/clinvar/56025 ^@ NM_000112.3(SLC26A2):c.496G>A (p.Gly166Arg) http://identifiers.org/clinvar/56076 ^@ NM_000170.2(GLDC):c.2414G>A (p.Trp805Ter) http://identifiers.org/clinvar/56130 ^@ NM_000274.3(OAT):c.532_536delTGGGG (p.Trp178Terfs) http://identifiers.org/clinvar/56181 ^@ NM_000310.3(PPT1):c.163A>T (p.Lys55Ter) http://identifiers.org/clinvar/56231 ^@ NM_000481.3(AMT):c.434A>T (p.Asn145Ile) http://identifiers.org/clinvar/56282 ^@ NM_001042432.1(CLN3):c.565G>C (p.Gly189Arg) http://identifiers.org/clinvar/56334 ^@ NM_001081.3(CUBN):c.3096delT (p.Tyr1032Terfs) http://identifiers.org/clinvar/56384 ^@ NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter) http://identifiers.org/clinvar/56436 ^@ NM_004646.3(NPHS1):c.1307_1308dupAC (p.Val437Thrfs) http://identifiers.org/clinvar/56486 ^@ NM_004646.3(NPHS1):c.2769_2775delCAACGCC (p.Asn924Leufs) http://identifiers.org/clinvar/56537 ^@ NM_006493.2(CLN5):c.527_528insA (p.Gly177Trpfs) http://identifiers.org/clinvar/56590 ^@ NM_017739.3(POMGNT1):c.1864delC (p.Leu622Trpfs) http://identifiers.org/clinvar/56645 ^@ NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) http://identifiers.org/clinvar/56695 ^@ NM_017890.4(VPS13B):c.8611delA (p.Thr2871Hisfs) http://identifiers.org/clinvar/56745 ^@ NM_030943.3(AMN):c.1170-6C>T http://identifiers.org/clinvar/56814 ^@ NM_001142519.2(FAM111A):c.1012A>G (p.Thr338Ala) http://identifiers.org/clinvar/57005 ^@ GRCh38/hg38 11p13(chr11:31780836-32088303)x3 http://identifiers.org/clinvar/101393 ^@ NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp) http://identifiers.org/clinvar/101443 ^@ NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del) http://identifiers.org/clinvar/103371 ^@ NM_178844.3(NLRC3):c.2757C>T (p.Ser919=) http://identifiers.org/clinvar/111245 ^@ NM_005534.3(IFNGR2):c.413-92T>C http://identifiers.org/clinvar/120180 ^@ NM_024301.4(FKRP):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/120257 ^@ NM_000277.1(PAH):c.1004A>C (p.Lys335Thr) http://identifiers.org/clinvar/120307 ^@ NM_001282227.1(ADA2):c.665G>C (p.Trp222Ser) http://identifiers.org/clinvar/125464 ^@ NM_007294.3(BRCA1):c.-20+11C>T http://identifiers.org/clinvar/125538 ^@ S694S http://identifiers.org/clinvar/125620 ^@ NM_007294.3(BRCA1):c.3256_3257insGA (p.Leu1086Terfs) http://identifiers.org/clinvar/125689 ^@ NM_007294.3(BRCA1):c.4185+29C>T http://identifiers.org/clinvar/125751 ^@ U14680.1:n.5118_5120delAAT http://identifiers.org/clinvar/125829 ^@ U14680.1:n.5452-36_del510 http://identifiers.org/clinvar/125891 ^@ NM_007294.3(BRCA1):c.548-68delT http://identifiers.org/clinvar/125954 ^@ U43746.1:n.190-13A>G http://identifiers.org/clinvar/126016 ^@ NM_000059.3(BRCA2):c.3526G>A (p.Val1176Ile) http://identifiers.org/clinvar/126091 ^@ NM_000059.3(BRCA2):c.6203_6204insA (p.Leu2069Phefs) http://identifiers.org/clinvar/126152 ^@ U43746.1:n.7830-27T>A http://identifiers.org/clinvar/126212 ^@ NM_000059.3(BRCA2):c.9449C>T (p.Pro3150Leu) http://identifiers.org/clinvar/126270 ^@ NM_025114.3(CEP290):c.942+28T>C http://identifiers.org/clinvar/126321 ^@ NM_020732.3(ARID1B):c.278A>T (p.His93Leu) http://identifiers.org/clinvar/126375 ^@ NM_001457.3(FLNB):c.517G>A (p.Ala173Thr) http://identifiers.org/clinvar/126428 ^@ NM_001017975.4(HFM1):c.1687-1G>C http://identifiers.org/clinvar/126501 ^@ NM_003638.2(ITGA8):c.764C>T (p.Thr255Met) http://identifiers.org/clinvar/126582 ^@ NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) http://identifiers.org/clinvar/126632 ^@ NM_024675.3(PALB2):c.212-25T>A http://identifiers.org/clinvar/126684 ^@ NM_024675.3(PALB2):c.2823C>A (p.Ile941=) http://identifiers.org/clinvar/126734 ^@ NM_024675.3(PALB2):c.3323delA (p.Tyr1108Serfs) http://identifiers.org/clinvar/127509 ^@ NM_000057.3(BLM):c.4068G>C (p.Lys1356Asn) http://identifiers.org/clinvar/127559 ^@ NM_000179.2(MSH6):c.1288G>A (p.Gly430Arg) http://identifiers.org/clinvar/127609 ^@ NM_000249.3(MLH1):c.1148T>C (p.Met383Thr) http://identifiers.org/clinvar/127661 ^@ NM_000314.6(PTEN):c.-1142C>T http://identifiers.org/clinvar/127719 ^@ NM_000465.3(BARD1):c.1678A>C (p.Met560Leu) http://identifiers.org/clinvar/127769 ^@ NM_000535.6(PMS2):c.1999G>A (p.Glu667Lys) http://identifiers.org/clinvar/127820 ^@ NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) http://identifiers.org/clinvar/160839 ^@ GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 http://identifiers.org/clinvar/160892 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x0 http://identifiers.org/clinvar/160944 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1 http://identifiers.org/clinvar/160994 ^@ GRCh38/hg38 6p25.3(chr6:259528-293493)x1 http://identifiers.org/clinvar/161045 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1 http://identifiers.org/clinvar/161095 ^@ NM_030777.3(SLC2A10):c.417T>A (p.Tyr139Ter) http://identifiers.org/clinvar/161145 ^@ NM_152296.4(ATP1A3):c.2542+1G>A http://identifiers.org/clinvar/161227 ^@ NM_004415.3(DSP):c.5324G>T (p.Arg1775Ile) http://identifiers.org/clinvar/161327 ^@ NM_000257.3(MYH7):c.2359C>T (p.Arg787Cys) http://identifiers.org/clinvar/161277 ^@ NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) http://identifiers.org/clinvar/161377 ^@ NM_000540.2(RYR1):c.13760C>T (p.Pro4587Leu) http://identifiers.org/clinvar/161443 ^@ NM_002529.3(NTRK1):c.1550G>A (p.Gly517Glu) http://identifiers.org/clinvar/161746 ^@ NM_021163.3(RBAK):c.1602A>T (p.Lys534Asn) http://identifiers.org/clinvar/161646 ^@ NM_006412.3(AGPAT2):c.248delC (p.Pro83Argfs) http://identifiers.org/clinvar/161796 ^@ NM_058240.3(SLC8A3):c.1690G>A (p.Val564Ile) http://identifiers.org/clinvar/161846 ^@ NM_181877.3(ZSCAN2):c.1255C>A (p.Gln419Lys) http://identifiers.org/clinvar/161546 ^@ NM_001167580.2(SV2B):c.1084C>T (p.Arg362Trp) http://identifiers.org/clinvar/161596 ^@ NM_002470.3(MYH3):c.118G>A (p.Val40Met) http://identifiers.org/clinvar/161496 ^@ NM_001024596.2(ZNF772):c.10_11insGGC (p.Ala4delinsGlyPro) http://identifiers.org/clinvar/161696 ^@ NM_015691.3(WWC3):c.2089C>A (p.Leu697Met) http://identifiers.org/clinvar/162018 ^@ NM_018075.4(ANO10):c.1144G>T (p.Glu382Ter) http://identifiers.org/clinvar/162080 ^@ NM_002887.3(RARS):c.5A>G (p.Asp2Gly) http://identifiers.org/clinvar/162137 ^@ NM_025243.3(SLC19A3):c.20C>A (p.Ser7Ter) http://identifiers.org/clinvar/162205 ^@ NM_006701.4(TXNL4A):c.37C>T (p.Gln13Ter) http://identifiers.org/clinvar/162409 ^@ NM_170707.3(LMNA):c.667G>A (p.Glu223Lys) http://identifiers.org/clinvar/162490 ^@ NM_177972.2(TUB):c.1194_1195delAG (p.Arg398Serfs) http://identifiers.org/clinvar/165554 ^@ NM_000364.3(TNNT2):c.208A>C (p.Met70Leu) http://identifiers.org/clinvar/179954 ^@ NM_133378.4(TTN):c.70873A>C (p.Ile23625Leu) http://identifiers.org/clinvar/179904 ^@ NM_001256850.1(TTN):c.72876A>T (p.Thr24292=) http://identifiers.org/clinvar/166002 ^@ NM_133378.4(TTN):c.43974C>T (p.Asn14658=) http://identifiers.org/clinvar/178646 ^@ NM_206933.2(USH2A):c.8319C>T (p.Ser2773=) http://identifiers.org/clinvar/178196 ^@ NM_133378.4(TTN):c.60733G>A (p.Glu20245Lys) http://identifiers.org/clinvar/166508 ^@ NM_007123.5(USH2A):c.3801G>A (p.Ala1267=) http://identifiers.org/clinvar/180004 ^@ NM_133378.4(TTN):c.99378G>A (p.Leu33126=) http://identifiers.org/clinvar/165855 ^@ NM_001256850.1(TTN):c.66398G>A (p.Trp22133Ter) http://identifiers.org/clinvar/180054 ^@ NM_001256850.1(TTN):c.57611C>G (p.Thr19204Arg) http://identifiers.org/clinvar/165952 ^@ NM_133378.4(TTN):c.49712T>C (p.Ile16571Thr) http://identifiers.org/clinvar/165678 ^@ NM_133378.4(TTN):c.91162A>G (p.Met30388Val) http://identifiers.org/clinvar/178246 ^@ NM_133378.4(TTN):c.16898T>C (p.Ile5633Thr) http://identifiers.org/clinvar/166143 ^@ NM_001256850.1(TTN):c.25743G>T (p.Gly8581=) http://identifiers.org/clinvar/166258 ^@ NM_133379.4(TTN):c.14688T>C (p.Thr4896=) http://identifiers.org/clinvar/165280 ^@ NM_005633.3(SOS1):c.2511-9dupT http://identifiers.org/clinvar/165202 ^@ NM_198843.2(SFTPB):c.879C>T (p.Asp293=) http://identifiers.org/clinvar/166308 ^@ NM_133378.4(TTN):c.7242T>C (p.Ile2414=) http://identifiers.org/clinvar/165012 ^@ NM_002880.3(RAF1):c.-40C>T http://identifiers.org/clinvar/177894 ^@ NM_002880.3(RAF1):c.-298C>T http://identifiers.org/clinvar/165140 ^@ NM_198056.2(SCN5A):c.3666+10T>C http://identifiers.org/clinvar/180104 ^@ NM_198056.2(SCN5A):c.2647G>A (p.Asp883Asn) http://identifiers.org/clinvar/166592 ^@ NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) http://identifiers.org/clinvar/178596 ^@ NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) http://identifiers.org/clinvar/177844 ^@ NM_004333.4(BRAF):c.1455G>T (p.Leu485Phe) http://identifiers.org/clinvar/177693 ^@ NM_005228.4(EGFR):c.2251_2275del25 (p.Thr751Serfs) http://identifiers.org/clinvar/177743 ^@ NM_005228.4(EGFR):c.2775C>T (p.Ser925=) http://identifiers.org/clinvar/164803 ^@ NM_016616.4(NME8):c.1013T>C (p.Ile338Thr) http://identifiers.org/clinvar/198441 ^@ NM_001004334.3(GPR179):c.1478A= (p.His493=) http://identifiers.org/clinvar/198493 ^@ NM_003482.3(KMT2D):c.878C>T (p.Thr293Met) http://identifiers.org/clinvar/198546 ^@ NM_006726.4(LRBA):c.787C>G (p.Leu263Val) http://identifiers.org/clinvar/198598 ^@ NM_032119.3(ADGRV1):c.1140A>G (p.Gln380=) http://identifiers.org/clinvar/198649 ^@ NM_001277115.1(DNAH11):c.11717C>G (p.Ala3906Gly) http://identifiers.org/clinvar/198700 ^@ NM_000235.3(LIPA):c.889A>G (p.Ser297Gly) http://identifiers.org/clinvar/198755 ^@ NM_000883.3(IMPDH1):c.624C>G (p.Pro208=) http://identifiers.org/clinvar/198806 ^@ NM_004385.4(VCAN):c.8621C>T (p.Ala2874Val) http://identifiers.org/clinvar/198860 ^@ NM_014476.5(PDLIM3):c.1080G>C (p.Leu360=) http://identifiers.org/clinvar/198913 ^@ NM_032119.3(ADGRV1):c.1374T>A (p.Phe458Leu) http://identifiers.org/clinvar/198966 ^@ NM_001271208.1(NEB):c.18140A>G (p.Tyr6047Cys) http://identifiers.org/clinvar/199018 ^@ NM_000414.3(HSD17B4):c.666C>G (p.Val222=) http://identifiers.org/clinvar/199068 ^@ NM_001458.4(FLNC):c.1502C>T (p.Thr501Ile) http://identifiers.org/clinvar/199123 ^@ NM_006790.2(MYOT):c.1265C>T (p.Thr422Ile) http://identifiers.org/clinvar/199173 ^@ NM_024884.2(L2HGDH):c.1100A>G (p.Tyr367Cys) http://identifiers.org/clinvar/199229 ^@ NM_000540.2(RYR1):c.13680T>C (p.Phe4560=) http://identifiers.org/clinvar/202872 ^@ NM_001256850.1(TTN):c.71873T>C (p.Leu23958Pro) http://identifiers.org/clinvar/231740 ^@ NM_005732.3(RAD50):c.1774G>A (p.Asp592Asn) http://identifiers.org/clinvar/234093 ^@ NM_005732.3(RAD50):c.2949A>G (p.Val983=) http://identifiers.org/clinvar/231090 ^@ NM_000535.6(PMS2):c.2043G>A (p.Gln681=) http://identifiers.org/clinvar/231440 ^@ NM_000535.6(PMS2):c.1398C>T (p.Gly466=) http://identifiers.org/clinvar/234143 ^@ NM_004329.2(BMPR1A):c.1359C>T (p.Tyr453=) http://identifiers.org/clinvar/231140 ^@ NM_000051.3(ATM):c.3365A>G (p.Asn1122Ser) http://identifiers.org/clinvar/230890 ^@ NM_000051.3(ATM):c.4624T>C (p.Leu1542=) http://identifiers.org/clinvar/234043 ^@ NM_000051.3(ATM):c.8766dupT (p.Val2923Cysfs) http://identifiers.org/clinvar/231390 ^@ NM_003002.3(SDHD):c.147dupA (p.His50Thrfs) http://identifiers.org/clinvar/229851 ^@ NM_005591.3(MRE11):c.1496A>G (p.Glu499Gly) http://identifiers.org/clinvar/231640 ^@ NM_005591.3(MRE11):c.363A>C (p.Pro121=) http://identifiers.org/clinvar/231240 ^@ NM_000059.3(BRCA2):c.2082T>C (p.Asn694=) http://identifiers.org/clinvar/231190 ^@ NM_000059.3(BRCA2):c.4516T>C (p.Phe1506Leu) http://identifiers.org/clinvar/231590 ^@ NM_000059.3(BRCA2):c.10148A>G (p.Lys3383Arg) http://identifiers.org/clinvar/230940 ^@ NM_024675.3(PALB2):c.1085T>G (p.Leu362Arg) http://identifiers.org/clinvar/231490 ^@ NM_004360.4(CDH1):c.1824G>A (p.Lys608=) http://identifiers.org/clinvar/230840 ^@ NM_001042492.2(NF1):c.3987A>G (p.Ser1329=) http://identifiers.org/clinvar/231040 ^@ NM_001042492.2(NF1):c.5160G>T (p.Glu1720Asp) http://identifiers.org/clinvar/234243 ^@ NM_032043.2(BRIP1):c.3336T>A (p.Asp1112Glu) http://identifiers.org/clinvar/231540 ^@ NM_000546.5(TP53):c.454_466delCCGCCCGGCACCC (p.Pro152Alafs) http://identifiers.org/clinvar/234931 ^@ NM_003052.4(SLC34A1):c.272_292del21 (p.Val91_Ala97del) http://identifiers.org/clinvar/235018 ^@ NM_000256.3(MYBPC3):c.1687delG (p.Val563Cysfs) http://identifiers.org/clinvar/235068 ^@ NM_000366.5(TPM1):c.762T>A (p.Asp254Glu) http://identifiers.org/clinvar/235198 ^@ NM_138295.4(PKD1L1):c.5072G>C (p.Cys1691Ser) http://identifiers.org/clinvar/235257 ^@ NM_003560.2(PLA2G6):c.898G>A (p.Ala300Thr) http://identifiers.org/clinvar/235310 ^@ NM_173076.2(ABCA12):c.5617G>A (p.Val1873Ile) http://identifiers.org/clinvar/235361 ^@ NC_012920.1:m.12239C>T http://identifiers.org/clinvar/235416 ^@ NM_004035.6(ACOX1):c.532G>A (p.Gly178Ser) http://identifiers.org/clinvar/242393 ^@ NM_000260.3(MYO7A):c.29T>C (p.Val10Ala) http://identifiers.org/clinvar/240079 ^@ NM_004958.3(MTOR):c.4260T>C (p.Asn1420=) http://identifiers.org/clinvar/239429 ^@ NM_003000.2(SDHB):c.307A>G (p.Met103Val) http://identifiers.org/clinvar/238236 ^@ NM_001035.2(RYR2):c.4991T>A (p.Val1664Asp) http://identifiers.org/clinvar/238336 ^@ NM_001128425.1(MUTYH):c.1332C>T (p.His444=) http://identifiers.org/clinvar/237736 ^@ NM_000384.2(APOB):c.11966G>A (p.Arg3989His) http://identifiers.org/clinvar/237836 ^@ NM_000465.3(BARD1):c.382C>T (p.Pro128Ser) http://identifiers.org/clinvar/239076 ^@ NM_001927.3(DES):c.410C>A (p.Ala137Asp) http://identifiers.org/clinvar/241969 ^@ NM_152383.4(DIS3L2):c.2060G>A (p.Arg687Gln) http://identifiers.org/clinvar/239829 ^@ NM_004304.4(ALK):c.3837-9_3837-7dupTCC http://identifiers.org/clinvar/239126 ^@ NM_002354.2(EPCAM):c.21C>T (p.Leu7=) http://identifiers.org/clinvar/237385 ^@ NM_000251.2(MSH2):c.2242G>C (p.Asp748His) http://identifiers.org/clinvar/237134 ^@ NM_000179.2(MSH6):c.1443A>G (p.Ala481=) http://identifiers.org/clinvar/237184 ^@ NM_000179.2(MSH6):c.3213T>C (p.Asp1071=) http://identifiers.org/clinvar/242269 ^@ NR_001566.1(TERC):n.267C>T http://identifiers.org/clinvar/242169 ^@ NM_181426.1(CCDC39):c.163_164delAT (p.Met55Aspfs) http://identifiers.org/clinvar/239529 ^@ NM_003242.5(TGFBR2):c.1529delT (p.Ile510Thrfs) http://identifiers.org/clinvar/237335 ^@ NM_000249.3(MLH1):c.226G>A (p.Val76Ile) http://identifiers.org/clinvar/240280 ^@ NM_006030.3(CACNA2D2):c.896G>A (p.Ser299Asn) http://identifiers.org/clinvar/240330 ^@ NM_006206.4(PDGFRA):c.2421G>A (p.Glu807=) http://identifiers.org/clinvar/237285 ^@ NM_000222.2(KIT):c.878A>G (p.Asn293Ser) http://identifiers.org/clinvar/237235 ^@ NM_000222.2(KIT):c.1120G>A (p.Val374Ile) http://identifiers.org/clinvar/242219 ^@ NM_198253.2(TERT):c.1659C>T (p.Val553=) http://identifiers.org/clinvar/240230 ^@ NM_005732.3(RAD50):c.3028dupA (p.Thr1010Asnfs) http://identifiers.org/clinvar/239929 ^@ NM_004387.3(NKX2-5):c.298C>G (p.Pro100Ala) http://identifiers.org/clinvar/239679 ^@ NM_004168.3(SDHA):c.63+8C>T http://identifiers.org/clinvar/239629 ^@ NM_004100.4(EYA4):c.277+9G>A http://identifiers.org/clinvar/262768 ^@ NM_153717.2(EVC):c.1727G>A (p.Arg576Gln) http://identifiers.org/clinvar/262068 ^@ NM_032446.2(MEGF10):c.2076C>T (p.Pro692=) http://identifiers.org/clinvar/257989 ^@ NM_001369.2(DNAH5):c.12034-24T>C http://identifiers.org/clinvar/258039 ^@ NM_001369.2(DNAH5):c.5114+30G>T http://identifiers.org/clinvar/263018 ^@ NM_182925.4(FLT4):c.1103+20A>G http://identifiers.org/clinvar/263068 ^@ NM_182925.4(FLT4):c.676+18C>T http://identifiers.org/clinvar/259378 ^@ NM_004385.4(VCAN):c.9630C>T (p.His3210=) http://identifiers.org/clinvar/262168 ^@ NM_033071.3(SYNE1):c.16263A>G (p.Gln5421=) http://identifiers.org/clinvar/262418 ^@ NM_138694.3(PKHD1):c.8173+12C>T http://identifiers.org/clinvar/258339 ^@ NM_001851.4(COL9A1):c.1089+9C>G http://identifiers.org/clinvar/259328 ^@ NM_004370.5(COL12A1):c.2835T>C (p.Asp945=) http://identifiers.org/clinvar/258139 ^@ NM_001458.4(FLNC):c.3000T>C (p.Asp1000=) http://identifiers.org/clinvar/257889 ^@ NM_001277115.1(DNAH11):c.4143G>A (p.Thr1381=) http://identifiers.org/clinvar/257939 ^@ NM_001277115.1(DNAH11):c.9102+20G>A http://identifiers.org/clinvar/263118 ^@ NM_198428.2(BBS9):c.1432+47T>A http://identifiers.org/clinvar/255450 ^@ NM_000168.5(GLI3):c.840C>G (p.Ser280=) http://identifiers.org/clinvar/255400 ^@ NM_000162.3(GCK):c.129C>T (p.Arg43=) http://identifiers.org/clinvar/261968 ^@ NM_031443.3(CCM2):c.246C>T (p.Pro82=) http://identifiers.org/clinvar/259679 ^@ NM_005228.4(EGFR):c.2982C>T (p.Asp994=) http://identifiers.org/clinvar/260929 ^@ NM_017802.3(DNAAF5):c.1707G>T (p.Arg569=) http://identifiers.org/clinvar/260179 ^@ NM_012082.3(ZFPM2):c.629G>C (p.Ser210Thr) http://identifiers.org/clinvar/260329 ^@ NM_014112.4(TRPS1):c.-9dupT http://identifiers.org/clinvar/260279 ^@ NM_012472.5(LRRC6):c.914+13A>G http://identifiers.org/clinvar/259278 ^@ NM_004315.5(ASAH1):c.262G>A (p.Val88Met) http://identifiers.org/clinvar/254750 ^@ NM_000050.4(ASS1):c.99C>T (p.Ala33=) http://identifiers.org/clinvar/255100 ^@ NM_000093.4(COL5A1):c.787-42C>T http://identifiers.org/clinvar/255050 ^@ NM_000093.4(COL5A1):c.1432-24C>T http://identifiers.org/clinvar/259478 ^@ NM_004629.1(FANCG):c.511-45A>G http://identifiers.org/clinvar/260379 ^@ NM_014290.2(TDRD7):c.207+18C>T http://identifiers.org/clinvar/262118 ^@ NM_032844.4(MASTL):c.2124+20A>C http://identifiers.org/clinvar/262218 ^@ NM_033100.3(CDHR1):c.728C>T (p.Ala243Val) http://identifiers.org/clinvar/257339 ^@ NM_001080114.1(LDB3):c.901+30C>G http://identifiers.org/clinvar/255500 ^@ NM_000195.4(HPS1):c.1397+7_1397+8delinsCT http://identifiers.org/clinvar/260479 ^@ NM_014956.4(CEP164):c.2655C>T (p.Thr885=) http://identifiers.org/clinvar/260029 ^@ NM_006757.3(TNNT3):c.681+14C>A http://identifiers.org/clinvar/259628 ^@ NM_005055.4(RAPSN):c.474C>T (p.Asp158=) http://identifiers.org/clinvar/259829 ^@ NM_005609.3(PYGM):c.1092+6dupC http://identifiers.org/clinvar/262018 ^@ NM_032193.3(RNASEH2C):c.-10A>G http://identifiers.org/clinvar/258189 ^@ NM_001814.5(CTSC):c.1173T>G (p.Thr391=) http://identifiers.org/clinvar/262468 ^@ NM_139319.2(SLC17A8):c.354+16T>C http://identifiers.org/clinvar/258089 ^@ NM_001414.3(EIF2B1):c.*49G>A http://identifiers.org/clinvar/262818 ^@ NM_172364.4(CACNA2D4):c.3310-4G>A http://identifiers.org/clinvar/257139 ^@ NM_001025356.2(ANO6):c.102C>T (p.Pro34=) http://identifiers.org/clinvar/258239 ^@ NM_001844.4(COL2A1):c.426A>T (p.Glu142Asp) http://identifiers.org/clinvar/262568 ^@ NM_145064.2(STAC3):c.*2C>T http://identifiers.org/clinvar/255600 ^@ NM_000231.2(SGCG):c.102C>T (p.Arg34=) http://identifiers.org/clinvar/260129 ^@ NM_007129.3(ZIC2):c.1239+18G>A http://identifiers.org/clinvar/257189 ^@ NM_001034852.2(SMOC1):c.702C>T (p.Ala234=) http://identifiers.org/clinvar/257639 ^@ NM_001211.5(BUB1B):c.36-13dupT http://identifiers.org/clinvar/262368 ^@ NM_138477.2(CDAN1):c.1969G>A (p.Gly657Ser) http://identifiers.org/clinvar/255150 ^@ NM_000119.2(EPB42):c.1409-13T>G http://identifiers.org/clinvar/255300 ^@ NM_000138.4(FBN1):c.5097C>T (p.Tyr1699=) http://identifiers.org/clinvar/255650 ^@ NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) http://identifiers.org/clinvar/335015 ^@ NM_005199.4(CHRNG):c.1423G>A (p.Val475Ile) http://identifiers.org/clinvar/335915 ^@ NM_000104.3(CYP1B1):c.*2207G>A http://identifiers.org/clinvar/333124 ^@ NM_000393.4(COL5A2):c.*392T>C http://identifiers.org/clinvar/335315 ^@ NM_152783.4(D2HGDH):c.893C>T (p.Thr298Ile) http://identifiers.org/clinvar/336015 ^@ NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) http://identifiers.org/clinvar/332924 ^@ NM_133378.4(TTN):c.13011T>C (p.Asp4337=) http://identifiers.org/clinvar/333224 ^@ NM_005259.2(MSTN):c.*697T>C http://identifiers.org/clinvar/333274 ^@ NM_007315.3(STAT1):c.1314A>G (p.Gln438=) http://identifiers.org/clinvar/333024 ^@ NM_002500.4(NEUROD1):c.*718C>T http://identifiers.org/clinvar/335465 ^@ NM_194248.2(OTOF):c.-54G>A http://identifiers.org/clinvar/333374 ^@ NM_001006657.1(WDR35):c.2998-4G>T http://identifiers.org/clinvar/333074 ^@ NM_000090.3(COL3A1):c.*88C>T http://identifiers.org/clinvar/333474 ^@ NM_032977.3(CASP10):c.*2295T>A http://identifiers.org/clinvar/333524 ^@ NM_001228.4(CASP8):c.*812T>A http://identifiers.org/clinvar/335565 ^@ NM_144631.5(ZNF513):c.-103G>A http://identifiers.org/clinvar/335665 ^@ NM_001029883.2(C2orf71):c.1262A>G (p.Lys421Arg) http://identifiers.org/clinvar/335765 ^@ NM_000379.3(XDH):c.3084C>T (p.Gly1028=) http://identifiers.org/clinvar/333824 ^@ NM_014929.3(FASTKD2):c.*1202A>T http://identifiers.org/clinvar/333874 ^@ NM_006891.3(CRYGD):c.168C>G (p.Tyr56Ter) http://identifiers.org/clinvar/337232 ^@ NM_000821.6(GGCX):c.*1049T>A http://identifiers.org/clinvar/334025 ^@ NM_001875.4(CPS1):c.2192+6A>T http://identifiers.org/clinvar/337332 ^@ NM_003896.3(ST3GAL5):c.*115C>T http://identifiers.org/clinvar/342312 ^@ NM_016247.3(IMPG2):c.*742_*743delTA http://identifiers.org/clinvar/334715 ^@ NM_000092.4(COL4A4):c.2717-15C>A http://identifiers.org/clinvar/337132 ^@ NM_013247.4(HTRA2):c.627A>G (p.Arg209=) http://identifiers.org/clinvar/337432 ^@ NM_144563.2(RPIA):c.596+5A>C http://identifiers.org/clinvar/337532 ^@ NM_014014.4(SNRNP200):c.5665G>A (p.Val1889Ile) http://identifiers.org/clinvar/337582 ^@ NM_020184.3(CNNM4):c.556A>G (p.Ile186Val) http://identifiers.org/clinvar/334915 ^@ NM_004509.3(SP110):c.542T>G (p.Leu181Arg) http://identifiers.org/clinvar/342362 ^@ NM_016247.3(IMPG2):c.-131G>A http://identifiers.org/clinvar/334965 ^@ NM_000751.2(CHRND):c.442C>T (p.Arg148Cys) http://identifiers.org/clinvar/335115 ^@ NM_004369.3(COL6A3):c.5838+12C>A http://identifiers.org/clinvar/335165 ^@ NM_004544.3(NDUFA10):c.*2602C>T http://identifiers.org/clinvar/335615 ^@ NM_001029883.2(C2orf71):c.*988C>G http://identifiers.org/clinvar/335215 ^@ NM_004321.7(KIF1A):c.*3038T>A http://identifiers.org/clinvar/335715 ^@ NM_004304.4(ALK):c.384G>A (p.Lys128=) http://identifiers.org/clinvar/335365 ^@ NM_000182.4(HADHA):c.*489G>A http://identifiers.org/clinvar/335515 ^@ NM_000221.2(KHK):c.*767C>T http://identifiers.org/clinvar/343901 ^@ NM_000060.4(BTD):c.-88C>T http://identifiers.org/clinvar/343951 ^@ NM_024996.5(GFM1):c.*1004T>C http://identifiers.org/clinvar/335965 ^@ NM_005633.3(SOS1):c.*4110C>A http://identifiers.org/clinvar/344001 ^@ NM_001041.3(SI):c.5197+8C>T http://identifiers.org/clinvar/344101 ^@ NM_145860.1(PDCD10):c.*339G>A http://identifiers.org/clinvar/357307 ^@ NM_003221.3(TFAP2B):c.*1199A>G http://identifiers.org/clinvar/350641 ^@ NM_032446.2(MEGF10):c.669T>A (p.Asp223Glu) http://identifiers.org/clinvar/350791 ^@ NM_001999.3(FBN2):c.645G>T (p.Pro215=) http://identifiers.org/clinvar/357607 ^@ NM_001723.5(DST):c.1764G>A (p.Ala588=) http://identifiers.org/clinvar/350841 ^@ NM_014402.4(UQCRQ):c.*19G>T http://identifiers.org/clinvar/357707 ^@ NM_001142800.1(EYS):c.4864G>A (p.Ala1622Thr) http://identifiers.org/clinvar/354817 ^@ NM_007214.4(SEC63):c.*3499A>C http://identifiers.org/clinvar/357857 ^@ NM_014989.5(RIMS1):c.4159C>T (p.Arg1387Trp) http://identifiers.org/clinvar/350941 ^@ NM_017415.2(KLHL3):c.*3128C>G http://identifiers.org/clinvar/355118 ^@ NM_001010892.2(RSPH4A):c.237A>G (p.Thr79=) http://identifiers.org/clinvar/358646 ^@ NM_014491.3(FOXP2):c.*2017delG http://identifiers.org/clinvar/358796 ^@ NM_006193.2(PAX4):c.990C>T (p.Ala330=) http://identifiers.org/clinvar/351730 ^@ NM_024577.3(SH3TC2):c.*10010A>T http://identifiers.org/clinvar/359046 ^@ NM_004333.4(BRAF):c.2128-27_2128-16delCTTTTTTTTTTCinsTCT http://identifiers.org/clinvar/359096 ^@ NM_000083.2(CLCN1):c.316C>G (p.Leu106Val) http://identifiers.org/clinvar/351680 ^@ NM_024577.3(SH3TC2):c.*12469T>A http://identifiers.org/clinvar/351980 ^@ NM_000440.2(PDE6A):c.2549G>T (p.Gly850Val) http://identifiers.org/clinvar/351780 ^@ NM_024577.3(SH3TC2):c.*6836T>C http://identifiers.org/clinvar/352128 ^@ NM_005211.3(CSF1R):c.2761C>T (p.Arg921Trp) http://identifiers.org/clinvar/352078 ^@ NM_000112.3(SLC26A2):c.*3580A>G http://identifiers.org/clinvar/352278 ^@ NM_000405.4(GM2A):c.*1239dupA http://identifiers.org/clinvar/352378 ^@ NM_000337.5(SGCD):c.*3868C>A http://identifiers.org/clinvar/352178 ^@ NM_005211.3(CSF1R):c.95T>G (p.Val32Gly) http://identifiers.org/clinvar/352628 ^@ NM_000816.3(GABRG2):c.-268C>A http://identifiers.org/clinvar/352478 ^@ NM_005546.3(ITK):c.*85A>C http://identifiers.org/clinvar/356907 ^@ NM_006502.2(POLH):c.1253_1255delCTC (p.Pro418del) http://identifiers.org/clinvar/356957 ^@ NM_006502.2(POLH):c.*2043dupA http://identifiers.org/clinvar/352778 ^@ NM_001017995.2(SH3PXD2B):c.*1159C>T http://identifiers.org/clinvar/357057 ^@ NM_020745.3(AARS2):c.2794G>A (p.Gly932Ser) http://identifiers.org/clinvar/352928 ^@ NM_022455.4(NSD1):c.*3861G>C http://identifiers.org/clinvar/357107 ^@ NM_001024630.3(RUNX2):c.*881A>G http://identifiers.org/clinvar/353028 ^@ NM_017838.3(NHP2):c.96C>T (p.Asn32=) http://identifiers.org/clinvar/352978 ^@ NM_003052.4(SLC34A1):c.*79G>C http://identifiers.org/clinvar/353228 ^@ NM_014324.5(AMACR):c.*1804G>T http://identifiers.org/clinvar/357457 ^@ NM_138694.3(PKHD1):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/357957 ^@ NM_004415.3(DSP):c.5283C>T (p.Asn1761=) http://identifiers.org/clinvar/353867 ^@ NM_002203.3(ITGA2):c.*4048_*4050delAGT http://identifiers.org/clinvar/306541 ^@ NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) http://identifiers.org/clinvar/306591 ^@ NM_030962.3(SBF2):c.2870C>A (p.Thr957Lys) http://identifiers.org/clinvar/306791 ^@ NM_024312.4(GNPTAB):c.*51A>C http://identifiers.org/clinvar/306841 ^@ NM_000618.4(IGF1):c.*5449G>A http://identifiers.org/clinvar/364444 ^@ NM_005502.3(ABCA1):c.1530A>G (p.Leu510=) http://identifiers.org/clinvar/307041 ^@ NM_052845.3(MMAB):c.*1088A>T http://identifiers.org/clinvar/307091 ^@ NM_000431.3(MVK):c.78+8G>A http://identifiers.org/clinvar/307441 ^@ NM_000017.3(ACADS):c.825C>T (p.Ile275=) http://identifiers.org/clinvar/364494 ^@ NM_001079802.1(FKTN):c.*818C>T http://identifiers.org/clinvar/364744 ^@ NM_018249.5(CDK5RAP2):c.5499T>G (p.Phe1833Leu) http://identifiers.org/clinvar/307491 ^@ NM_002150.2(HPD):c.5C>T (p.Thr2Met) http://identifiers.org/clinvar/307591 ^@ NM_012463.3(ATP6V0A2):c.1789A>G (p.Ile597Val) http://identifiers.org/clinvar/364994 ^@ NM_002316.3(LMX1B):c.*4288G>A http://identifiers.org/clinvar/364894 ^@ NM_002316.3(LMX1B):c.*79G>A http://identifiers.org/clinvar/364844 ^@ NM_000550.2(TYRP1):c.-167G>A http://identifiers.org/clinvar/308580 ^@ NM_017641.3(KIF21A):c.1542G>A (p.Ala514=) http://identifiers.org/clinvar/365444 ^@ NM_000368.4(TSC1):c.*2644G>T http://identifiers.org/clinvar/365494 ^@ NM_000368.4(TSC1):c.*583C>A http://identifiers.org/clinvar/301397 ^@ NM_005271.4(GLUD1):c.630A>G (p.Ala210=) http://identifiers.org/clinvar/365144 ^@ NM_001003722.1(GLE1):c.*782C>G http://identifiers.org/clinvar/365544 ^@ NM_139025.4(ADAMTS13):c.1341G>A (p.Ser447=) http://identifiers.org/clinvar/365194 ^@ NM_014908.3(DOLK):c.1130G>A (p.Arg377His) http://identifiers.org/clinvar/301497 ^@ NM_000314.6(PTEN):c.*2789C>G http://identifiers.org/clinvar/301647 ^@ NM_006204.3(PDE6C):c.*209T>C http://identifiers.org/clinvar/365344 ^@ NM_015046.5(SETX):c.7371T>C (p.His2457=) http://identifiers.org/clinvar/301697 ^@ NM_016341.3(PLCE1):c.1421C>T (p.Thr474Ile) http://identifiers.org/clinvar/309030 ^@ NM_003482.3(KMT2D):c.11195A>G (p.Gln3732Arg) http://identifiers.org/clinvar/301847 ^@ NM_001002261.3(ZFYVE27):c.*367G>A http://identifiers.org/clinvar/309330 ^@ NM_002234.3(KCNA5):c.-49G>C http://identifiers.org/clinvar/298348 ^@ NM_000195.4(HPS1):c.565C>T (p.Arg189Trp) http://identifiers.org/clinvar/365594 ^@ NM_014694.3(ADAMTSL2):c.1280G>A (p.Arg427His) http://identifiers.org/clinvar/309280 ^@ NM_000617.2(SLC11A2):c.*1902C>G http://identifiers.org/clinvar/298398 ^@ NM_004376.6(COX15):c.*1020A>T http://identifiers.org/clinvar/301997 ^@ NM_001080463.1(DYNC2H1):c.196-13T>C http://identifiers.org/clinvar/302047 ^@ NM_001080463.1(DYNC2H1):c.5512G>A (p.Ala1838Thr) http://identifiers.org/clinvar/309580 ^@ NM_000424.3(KRT5):c.-109C>T http://identifiers.org/clinvar/366195 ^@ NM_003070.4(SMARCA2):c.246C>T (p.Asp82=) http://identifiers.org/clinvar/309630 ^@ NM_000423.2(KRT2):c.52G>A (p.Gly18Arg) http://identifiers.org/clinvar/302097 ^@ NM_001080463.1(DYNC2H1):c.10866G>A (p.Pro3622=) http://identifiers.org/clinvar/309680 ^@ NM_002272.3(KRT4):c.870G>A (p.Thr290=) http://identifiers.org/clinvar/309830 ^@ NM_000456.2(SUOX):c.23T>C (p.Val8Ala) http://identifiers.org/clinvar/309980 ^@ NM_000075.3(CDK4):c.267A>G (p.Val89=) http://identifiers.org/clinvar/310130 ^@ NM_001038.5(SCNN1A):c.*4G>A http://identifiers.org/clinvar/310430 ^@ NM_001131025.1(PEX5):c.1653C>G (p.Leu551=) http://identifiers.org/clinvar/302936 ^@ NG_012235.1:g.10975G>C http://identifiers.org/clinvar/311074 ^@ NM_001845.5(COL4A1):c.690C>T (p.Asp230=) http://identifiers.org/clinvar/314473 ^@ NM_004452.3(ESRRB):c.-369G>A http://identifiers.org/clinvar/322148 ^@ NM_016239.3(MYO15A):c.5210G>A (p.Arg1737Gln) http://identifiers.org/clinvar/322198 ^@ NM_015681.4(B9D1):c.457G>A (p.Gly153Ser) http://identifiers.org/clinvar/322398 ^@ NM_080669.5(SLC46A1):c.*277A>G http://identifiers.org/clinvar/314873 ^@ NM_006329.3(FBLN5):c.1113G>A (p.Thr371=) http://identifiers.org/clinvar/314923 ^@ NM_004239.4(TRIP11):c.*100A>G http://identifiers.org/clinvar/314973 ^@ NM_004239.4(TRIP11):c.823+4A>T http://identifiers.org/clinvar/315023 ^@ NM_000295.4(SERPINA1):c.1095C>T (p.Asp365=) http://identifiers.org/clinvar/341562 ^@ NM_013416.3(NCF4):c.*138C>A http://identifiers.org/clinvar/315323 ^@ NM_139057.3(ADAMTS17):c.168C>T (p.Ala56=) http://identifiers.org/clinvar/315523 ^@ NM_002420.5(TRPM1):c.1536G>A (p.Leu512=) http://identifiers.org/clinvar/367763 ^@ NM_002294.2(LAMP2):c.*2162G>A http://identifiers.org/clinvar/367913 ^@ NM_194277.2(FRMD7):c.-14C>T http://identifiers.org/clinvar/368063 ^@ NM_000033.3(ABCD1):c.*668C>T http://identifiers.org/clinvar/368263 ^@ NM_000531.5(OTC):c.*276A>G http://identifiers.org/clinvar/368313 ^@ NM_006915.2(RP2):c.*904A>G http://identifiers.org/clinvar/314423 ^@ NM_017791.2(FLVCR2):c.*187T>C http://identifiers.org/clinvar/317162 ^@ NM_003978.4(PSTPIP1):c.-436G>A http://identifiers.org/clinvar/315373 ^@ NM_144599.4(NIPA1):c.*2685T>C http://identifiers.org/clinvar/315623 ^@ NM_133647.1(SLC12A6):c.408T>C (p.Phe136=) http://identifiers.org/clinvar/317663 ^@ NM_000875.4(IGF1R):c.*7046_*7050dupAAGTA http://identifiers.org/clinvar/315223 ^@ NM_139057.3(ADAMTS17):c.*519T>C http://identifiers.org/clinvar/325456 ^@ NM_024599.5(RHBDF2):c.612G>A (p.Arg204=) http://identifiers.org/clinvar/325506 ^@ NM_001077620.2(PRCD):c.*1650T>C http://identifiers.org/clinvar/317813 ^@ NM_005236.2(ERCC4):c.1463A>G (p.Lys488Arg) http://identifiers.org/clinvar/315973 ^@ NM_173500.3(TTBK2):c.*482C>G http://identifiers.org/clinvar/317913 ^@ NM_001287.5(CLCN7):c.*1332C>T http://identifiers.org/clinvar/316073 ^@ NM_025137.3(SPG11):c.7203A>G (p.Leu2401=) http://identifiers.org/clinvar/318115 ^@ NM_001143979.1(NDE1):c.*202G>A http://identifiers.org/clinvar/318165 ^@ NM_002474.2(MYH11):c.2481C>T (p.Leu827=) http://identifiers.org/clinvar/374176 ^@ NM_006445.3(PRPF8):c.926G>A (p.Arg309His) http://identifiers.org/clinvar/374126 ^@ NM_153638.3(PANK2):c.894G>A (p.Met298Ile) http://identifiers.org/clinvar/374230 ^@ NM_001145511.1(NFIA):c.881delG (p.Gly294Glufs) http://identifiers.org/clinvar/374350 ^@ NM_015311.2(OBSL1):c.3955C>T (p.Gln1319Ter) http://identifiers.org/clinvar/374300 ^@ NM_032446.2(MEGF10):c.1557delA (p.Trp520Glyfs) http://identifiers.org/clinvar/374418 ^@ NM_000815.4(GABRD):c.147C>T (p.Ala49=) http://identifiers.org/clinvar/374468 ^@ NM_022095.3(ZNF335):c.502C>A (p.Leu168Ile) http://identifiers.org/clinvar/374518 ^@ NM_031372.3(HNRNPDL):c.1108A>C (p.Asn370His) http://identifiers.org/clinvar/374568 ^@ NM_006846.3(SPINK5):c.411-5T>A http://identifiers.org/clinvar/374618 ^@ NM_000540.2(RYR1):c.5814+1G>A http://identifiers.org/clinvar/374668 ^@ NM_001845.5(COL4A1):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/374718 ^@ NM_006915.2(RP2):c.50C>T (p.Pro17Leu) http://identifiers.org/clinvar/374768 ^@ NM_014053.3(FLVCR1):c.1092+5G>A http://identifiers.org/clinvar/374828 ^@ NM_000142.4(FGFR3):c.1618A>G (p.Asn540Asp) http://identifiers.org/clinvar/374878 ^@ NM_016011.3(MECR):c.695G>A (p.Gly232Glu) http://identifiers.org/clinvar/374945 ^@ NM_000090.3(COL3A1):c.1235C>T (p.Ala412Val) http://identifiers.org/clinvar/385964 ^@ NM_000251.2(MSH2):c.646-16A>G http://identifiers.org/clinvar/378876 ^@ NM_000179.2(MSH6):c.867C>A (p.Gly289=) http://identifiers.org/clinvar/383774 ^@ NM_015120.4(ALMS1):c.7727G>A (p.Ser2576Asn) http://identifiers.org/clinvar/382421 ^@ NM_006302.2(MOGS):c.2336G>A (p.Arg779Gln) http://identifiers.org/clinvar/388353 ^@ NM_205847.2(GMPPA):c.190C>T (p.Pro64Ser) http://identifiers.org/clinvar/385664 ^@ NM_006302.2(MOGS):c.-44C>T http://identifiers.org/clinvar/377827 ^@ NM_025202.3(EFHD1):c.17T>G (p.Leu6Arg) http://identifiers.org/clinvar/388203 ^@ NM_001184.3(ATR):c.4376A>G (p.Asn1459Ser) http://identifiers.org/clinvar/381769 ^@ NM_000249.3(MLH1):c.1989+14C>T http://identifiers.org/clinvar/379476 ^@ NM_000094.3(COL7A1):c.6082G>A (p.Gly2028Arg) http://identifiers.org/clinvar/377627 ^@ NM_033337.2(CAV3):c.*85C>A http://identifiers.org/clinvar/388403 ^@ NM_033337.2(CAV3):c.-33G>A http://identifiers.org/clinvar/379526 ^@ NM_001059.2(TACR3):c.1345G>A (p.Ala449Thr) http://identifiers.org/clinvar/391002 ^@ NM_024582.4(FAT4):c.960G>A (p.Ser320=) http://identifiers.org/clinvar/381970 ^@ NM_000038.5(APC):c.6477T>C (p.Phe2159=) http://identifiers.org/clinvar/385364 ^@ NM_023073.3(C5orf42):c.1602G>A (p.Val534=) http://identifiers.org/clinvar/382221 ^@ NM_001184.3(ATR):c.5931A>G (p.Gln1977=) http://identifiers.org/clinvar/386064 ^@ NM_182916.2(TRNT1):c.696A>C (p.Gly232=) http://identifiers.org/clinvar/379276 ^@ NM_033071.3(SYNE1):c.23914G>T (p.Glu7972Ter) http://identifiers.org/clinvar/377977 ^@ NM_002185.3(IL7R):c.339A>C (p.Glu113Asp) http://identifiers.org/clinvar/379676 ^@ NM_032861.3(SERAC1):c.553G>A (p.Glu185Lys) http://identifiers.org/clinvar/388103 ^@ NM_020320.4(RARS2):c.-12G>A http://identifiers.org/clinvar/387503 ^@ NM_005670.3(EPM2A):c.822C>T (p.Thr274=) http://identifiers.org/clinvar/377477 ^@ NM_001148.4(ANK2):c.4371+5C>T http://identifiers.org/clinvar/385164 ^@ NM_020745.3(AARS2):c.750-7T>C http://identifiers.org/clinvar/384864 ^@ NM_033071.3(SYNE1):c.3417-17T>A http://identifiers.org/clinvar/391602 ^@ NM_020732.3(ARID1B):c.2372-2A>C http://identifiers.org/clinvar/382371 ^@ NM_172250.2(MMAA):c.1236A>G (p.Lys412=) http://identifiers.org/clinvar/387703 ^@ NM_153717.2(EVC):c.625G>A (p.Val209Ile) http://identifiers.org/clinvar/388453 ^@ NM_014141.5(CNTNAP2):c.3475+19A>C http://identifiers.org/clinvar/393241 ^@ NM_001999.3(FBN2):c.5965C>T (p.Arg1989Cys) http://identifiers.org/clinvar/392891 ^@ NM_024790.6(CSPP1):c.2953+5G>A http://identifiers.org/clinvar/390902 ^@ NM_014141.5(CNTNAP2):c.2383+15C>T http://identifiers.org/clinvar/385714 ^@ NM_003863.3(DPM2):c.-11C>G http://identifiers.org/clinvar/390952 ^@ NM_014908.3(DOLK):c.771C>T (p.Ile257=) http://identifiers.org/clinvar/381669 ^@ NM_000521.3(HEXB):c.796T>G (p.Tyr266Asp) http://identifiers.org/clinvar/385564 ^@ NM_153033.4(KCTD7):c.*9G>A http://identifiers.org/clinvar/377777 ^@ NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe) http://identifiers.org/clinvar/379426 ^@ NM_006904.6(PRKDC):c.2083C>T (p.Pro695Ser) http://identifiers.org/clinvar/377727 ^@ NM_000093.4(COL5A1):c.3528+14C>T http://identifiers.org/clinvar/384074 ^@ NM_020822.2(KCNT1):c.759+13G>A http://identifiers.org/clinvar/385914 ^@ NM_020822.2(KCNT1):c.2051C>T (p.Thr684Met) http://identifiers.org/clinvar/385314 ^@ NM_004959.4(NR5A1):c.225G>A (p.Thr75=) http://identifiers.org/clinvar/384914 ^@ NM_006904.6(PRKDC):c.9557+8G>A http://identifiers.org/clinvar/391752 ^@ NM_001079802.1(FKTN):c.106-18C>T http://identifiers.org/clinvar/383874 ^@ NM_003863.3(DPM2):c.153C>T (p.Val51=) http://identifiers.org/clinvar/133913 ^@ NM_015125.4(CIC):c.3658G>C (p.Glu1220Gln) http://identifiers.org/clinvar/133963 ^@ NM_177438.2(DICER1):c.56C>T (p.Pro19Leu) http://identifiers.org/clinvar/134013 ^@ NM_001077706.2(ECT2L):c.958_959delGTinsAC (p.Val320Thr) http://identifiers.org/clinvar/134065 ^@ NM_001429.3(EP300):c.1519A>G (p.Ser507Gly) http://identifiers.org/clinvar/134115 ^@ NM_000400.3(ERCC2):c.514G>A (p.Ala172Thr) http://identifiers.org/clinvar/134165 ^@ NM_000123.3(ERCC5):c.2890C>T (p.Arg964Trp) http://identifiers.org/clinvar/134215 ^@ NM_207122.1(EXT2):c.1022C>T (p.Pro341Leu) http://identifiers.org/clinvar/134265 ^@ NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) http://identifiers.org/clinvar/134316 ^@ NM_001018115.2(FANCD2):c.2555C>T (p.Pro852Leu) http://identifiers.org/clinvar/134367 ^@ NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) http://identifiers.org/clinvar/134417 ^@ NM_000143.3(FH):c.1138A>G (p.Met380Val) http://identifiers.org/clinvar/134467 ^@ NM_001145661.1(GATA2):c.490G>A (p.Ala164Thr) http://identifiers.org/clinvar/134517 ^@ NM_001282386.1(IDH1):c.548A>G (p.Tyr183Cys) http://identifiers.org/clinvar/134567 ^@ NM_000215.3(JAK3):c.1610G>A (p.Arg537Gln) http://identifiers.org/clinvar/136206 ^@ NM_130838.1(UBE3A):c.788T>G (p.Leu263Trp) http://identifiers.org/clinvar/136257 ^@ NM_000016.5(ACADM):c.900C>T (p.Thr300=) http://identifiers.org/clinvar/136308 ^@ NM_000026.3(ADSL):c.357+6C>T http://identifiers.org/clinvar/136359 ^@ NM_000692.4(ALDH1B1):c.183C>T (p.Thr61=) http://identifiers.org/clinvar/184299 ^@ NM_001042492.2(NF1):c.8216T>C (p.Ile2739Thr) http://identifiers.org/clinvar/184349 ^@ NM_007294.3(BRCA1):c.2472T>C (p.Asn824=) http://identifiers.org/clinvar/187300 ^@ NM_058216.2(RAD51C):c.1108C>T (p.Arg370Ter) http://identifiers.org/clinvar/183748 ^@ NM_000546.5(TP53):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/184199 ^@ NM_000455.4(STK11):c.1239T>A (p.Pro413=) http://identifiers.org/clinvar/188331 ^@ NM_001166110.1(PALLD):c.31G>T (p.Ala11Ser) http://identifiers.org/clinvar/188387 ^@ NM_024675.3(PALB2):c.2896A>G (p.Ile966Val) http://identifiers.org/clinvar/188592 ^@ NM_000256.3(MYBPC3):c.-2053_*2307del http://identifiers.org/clinvar/188542 ^@ NM_000256.3(MYBPC3):c.1091-39C>T http://identifiers.org/clinvar/188442 ^@ NM_000059.3(BRCA2):c.10051G>C (p.Ala3351Pro) http://identifiers.org/clinvar/188642 ^@ NM_000257.3(MYH7):c.5283+24C>T http://identifiers.org/clinvar/188692 ^@ NM_001018005.1(TPM1):c.82G>T (p.Asp28Tyr) http://identifiers.org/clinvar/188492 ^@ NM_004992.3(MECP2):c.-98-43_6dup http://identifiers.org/clinvar/188792 ^@ NM_000478.5(ALPL):c.871G>A (p.Glu291Lys) http://identifiers.org/clinvar/189094 ^@ NM_000128.3(F11):c.730C>T (p.Gln244Ter) http://identifiers.org/clinvar/188742 ^@ NM_138694.3(PKHD1):c.8521A>G (p.Met2841Val) http://identifiers.org/clinvar/188842 ^@ NM_000441.1(SLC26A4):c.269C>T (p.Ser90Leu) http://identifiers.org/clinvar/189044 ^@ NM_000050.4(ASS1):c.450_451delCT (p.Phe150Leufs) http://identifiers.org/clinvar/188943 ^@ NM_024685.3(BBS10):c.1241T>C (p.Leu414Ser) http://identifiers.org/clinvar/188993 ^@ NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) http://identifiers.org/clinvar/188893 ^@ NM_004937.2(CTNS):c.225+5_225+6delGTinsCC http://identifiers.org/clinvar/189144 ^@ NM_000152.4(GAA):c.1826dupA (p.Tyr609Terfs) http://identifiers.org/clinvar/189194 ^@ NM_000347.5(SPTB):c.1795+1G>A http://identifiers.org/clinvar/189262 ^@ NM_003632.2(CNTNAP1):c.2993-2_2994delAGAT http://identifiers.org/clinvar/189314 ^@ NM_001098.2(ACO2):c.2328_2331delGGAA (p.Lys776Asnfs) http://identifiers.org/clinvar/189464 ^@ NM_000314.6(PTEN):c.160G>A (p.Val54Ile) http://identifiers.org/clinvar/189406 ^@ NM_000314.6(PTEN):c.407G>A (p.Cys136Tyr) http://identifiers.org/clinvar/189634 ^@ NC_000023.10:g.153281346_153296256del14911 http://identifiers.org/clinvar/189734 ^@ NM_004992.3(MECP2):c.898_1099del202 (p.Val300Thrfs) http://identifiers.org/clinvar/189584 ^@ NM_003159.2(CDKL5):c.275_276insAA (p.Glu93Metfs) http://identifiers.org/clinvar/189534 ^@ NM_003159.2(CDKL5):c.2673G>A (p.Gln891=) http://identifiers.org/clinvar/189684 ^@ NM_004992.3:c.(?_27)_(1018_?)del http://identifiers.org/clinvar/189787 ^@ NM_003673.3(TCAP):c.410C>T (p.Thr137Ile) http://identifiers.org/clinvar/190337 ^@ NM_002055.4(GFAP):c.239T>C (p.Phe80Ser) http://identifiers.org/clinvar/190394 ^@ NM_001288953.1(TTC7A):c.2392G>A (p.Ala798Thr) http://identifiers.org/clinvar/242600 ^@ NC_000018.9:g.77421290_77904990del483701 http://identifiers.org/clinvar/229049 ^@ NM_006393.2(NEBL):c.383A>T (p.Gln128Leu) http://identifiers.org/clinvar/228499 ^@ NM_022124.5(CDH23):c.6654C>A (p.Asp2218Glu) http://identifiers.org/clinvar/229199 ^@ NM_002906.3(RDX):c.790G>C (p.Ala264Pro) http://identifiers.org/clinvar/229299 ^@ NM_005422.2(TECTA):c.3619G>A (p.Val1207Met) http://identifiers.org/clinvar/227999 ^@ NM_005422.2(TECTA):c.4044C>T (p.Tyr1348=) http://identifiers.org/clinvar/229099 ^@ NM_001277269.1(OTOG):c.6943C>T (p.Arg2315Cys) http://identifiers.org/clinvar/227178 ^@ NM_004316.3(ASCL1):c.138A>T (p.Ala46=) http://identifiers.org/clinvar/229149 ^@ NM_004572.3(PKP2):c.222C>A (p.Asn74Lys) http://identifiers.org/clinvar/226627 ^@ NM_000115.4(EDNRB):c.*1767C>T http://identifiers.org/clinvar/228899 ^@ NM_000257.3(MYH7):c.1504A>G (p.Lys502Glu) http://identifiers.org/clinvar/226527 ^@ NM_004086.2(COCH):c.1270T>G (p.Tyr424Asp) http://identifiers.org/clinvar/226577 ^@ NM_018139.2(DNAAF2):c.144C>A (p.Asn48Lys) http://identifiers.org/clinvar/228399 ^@ NM_153700.2(STRC):c.(?_3499)-60_(3557_?)+31del http://identifiers.org/clinvar/228949 ^@ NM_016239.3(MYO15A):c.3622C>T (p.Arg1208Cys) http://identifiers.org/clinvar/228199 ^@ NM_173477.4(USH1G):c.972T>C (p.Ser324=) http://identifiers.org/clinvar/228349 ^@ NM_133261.2(GIPC3):c.411+1G>A http://identifiers.org/clinvar/228699 ^@ NM_133261.2(GIPC3):c.787+5G>C http://identifiers.org/clinvar/228849 ^@ NM_030662.3(MAP2K2):c.326C>T (p.Pro109Leu) http://identifiers.org/clinvar/226677 ^@ NM_020433.4(JPH2):c.780C>T (p.Ala260=) http://identifiers.org/clinvar/228599 ^@ NM_004006.2(DMD):c.9225-5819G>T http://identifiers.org/clinvar/228049 ^@ NM_144991.2(TSPEAR):c.169C>T (p.Arg57Trp) http://identifiers.org/clinvar/228449 ^@ NM_001692.3(ATP6V1B1):c.362T>A (p.Met121Lys) http://identifiers.org/clinvar/228999 ^@ NM_000260.3(MYO7A):c.1288C>T (p.Arg430Cys) http://identifiers.org/clinvar/234425 ^@ NM_004895.4(NLRP3):c.1303A>G (p.Thr435Ala) http://identifiers.org/clinvar/234303 ^@ NM_004895.4(NLRP3):c.2542G>C (p.Ala848Pro) http://identifiers.org/clinvar/234627 ^@ NM_000249.3(MLH1):c.1897-3C>T http://identifiers.org/clinvar/234878 ^@ NM_000535.6(PMS2):c.221G>C (p.Gly74Ala) http://identifiers.org/clinvar/230990 ^@ NM_000051.3(ATM):c.3478G>C (p.Val1160Leu) http://identifiers.org/clinvar/234727 ^@ NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) http://identifiers.org/clinvar/234526 ^@ NM_000059.3(BRCA2):c.9937A>G (p.Lys3313Glu) http://identifiers.org/clinvar/234777 ^@ NM_005477.2(HCN4):c.3448G>A (p.Val1150Ile) http://identifiers.org/clinvar/234355 ^@ NM_000243.2(MEFV):c.460T>C (p.Ser154Pro) http://identifiers.org/clinvar/234577 ^@ NM_000214.2(JAG1):c.3062delT (p.Ile1021Asnfs) http://identifiers.org/clinvar/234677 ^@ NM_007194.3(CHEK2):c.276dupC (p.Trp93Leufs) http://identifiers.org/clinvar/234475 ^@ NM_000116.4(TAZ):c.461-2A>G http://identifiers.org/clinvar/234827 ^@ NM_000052.6(ATP7A):c.1892T>C (p.Leu631Ser) http://identifiers.org/clinvar/231290 ^@ NM_000465.3(BARD1):c.1724G>A (p.Ser575Asn) http://identifiers.org/clinvar/231690 ^@ NM_000251.2(MSH2):c.260C>A (p.Ser87Tyr) http://identifiers.org/clinvar/234193 ^@ NM_000251.2(MSH2):c.272A>T (p.Asp91Val) http://identifiers.org/clinvar/231340 ^@ NM_000179.2(MSH6):c.1406A>G (p.Tyr469Cys) http://identifiers.org/clinvar/231790 ^@ NM_000038.5(APC):c.3700A>T (p.Ser1234Cys) http://identifiers.org/clinvar/263965 ^@ NM_001456.3(FLNA):c.4669A>G (p.Thr1557Ala) http://identifiers.org/clinvar/267133 ^@ NM_000059.3(BRCA2):c.905_906insA (p.Ser303Leufs) http://identifiers.org/clinvar/266683 ^@ NM_000059.3(BRCA2):c.2202_2203insAA (p.Ala735Lysfs) http://identifiers.org/clinvar/266733 ^@ NM_000059.3(BRCA2):c.3066dupT (p.Asn1023Terfs) http://identifiers.org/clinvar/266783 ^@ NM_000059.3(BRCA2):c.3968_3971delAATA (p.Lys1323Ilefs) http://identifiers.org/clinvar/266833 ^@ NM_000059.3(BRCA2):c.4799delA (p.Asn1600Metfs) http://identifiers.org/clinvar/266883 ^@ NM_000059.3(BRCA2):c.5590_5591delGA (p.Asp1864Hisfs) http://identifiers.org/clinvar/266933 ^@ NM_000059.3(BRCA2):c.6258_6261delCAGA (p.Arg2087Leufs) http://identifiers.org/clinvar/267033 ^@ NM_000059.3(BRCA2):c.7744delG (p.Ala2582Leufs) http://identifiers.org/clinvar/267083 ^@ NM_000059.3(BRCA2):c.8401_8403delTTTinsAAAA (p.Phe2801Lysfs) http://identifiers.org/clinvar/267194 ^@ NC_000011.10:g.31720147_31816290del96144 http://identifiers.org/clinvar/267253 ^@ NM_015247.2(CYLD):c.2406_2407delCT (p.Cys802Terfs) http://identifiers.org/clinvar/267330 ^@ NC_000007.14:g.(?_142749479)_(142752573_?)dup http://identifiers.org/clinvar/267402 ^@ c.2639del200nt http://identifiers.org/clinvar/267484 ^@ NC_000016.9:g.(?_89161684)_(89505106_?)del http://identifiers.org/clinvar/267744 ^@ NG_009018.1:g.136931_139830del2900 http://identifiers.org/clinvar/267640 ^@ NM_000059.3(BRCA2):c.317-?_631+?del http://identifiers.org/clinvar/267690 ^@ NM_000059.3(BRCA2):c.7977-1G>A http://identifiers.org/clinvar/267590 ^@ NM_007294.3(BRCA1):c.5278-?_5406+?del http://identifiers.org/clinvar/267540 ^@ NM_007294.3(BRCA1):c.442-?_5277+?dup http://identifiers.org/clinvar/267819 ^@ 46;X;inv(X)(q26q28)dn http://identifiers.org/clinvar/267870 ^@ 46;XX;t(11;12)(p12;p12.1)dn http://identifiers.org/clinvar/267920 ^@ 46;XY;t(6;20)(p12;q13.1)dn http://identifiers.org/clinvar/267970 ^@ 46;XX;inv(7)(p13q11.23) http://identifiers.org/clinvar/268020 ^@ 46;XX;inv(1)(p36q25)dn http://identifiers.org/clinvar/268073 ^@ NC_000022.10:g.(?_18919579)_(21460595_?)del http://identifiers.org/clinvar/268137 ^@ NM_005506.3(SCARB2):c.424-2A>C http://identifiers.org/clinvar/291731 ^@ NM_007375.3(TARDBP):c.-77G>A http://identifiers.org/clinvar/291631 ^@ NM_015074.3(KIF1B):c.*2798C>T http://identifiers.org/clinvar/291578 ^@ NM_015074.3(KIF1B):c.4017G>T (p.Leu1339Phe) http://identifiers.org/clinvar/291681 ^@ NM_004565.2(PEX14):c.925G>T (p.Val309Leu) http://identifiers.org/clinvar/292670 ^@ NM_152263.3(TPM3):c.*2116T>C http://identifiers.org/clinvar/292970 ^@ NM_003126.2(SPTA1):c.5433-13C>A http://identifiers.org/clinvar/292770 ^@ NM_001111.4(ADAR):c.1934+8C>T http://identifiers.org/clinvar/293170 ^@ NM_000702.3(ATP1A2):c.*1284C>T http://identifiers.org/clinvar/293220 ^@ NM_002857.3(PEX19):c.*427A>G http://identifiers.org/clinvar/292870 ^@ NM_022367.3(SEMA4A):c.*711A>C http://identifiers.org/clinvar/292920 ^@ NM_003126.2(SPTA1):c.*295C>T http://identifiers.org/clinvar/293320 ^@ NM_003001.3(SDHC):c.*34A>G http://identifiers.org/clinvar/293020 ^@ NM_003126.2(SPTA1):c.2244C>T (p.Asp748=) http://identifiers.org/clinvar/292420 ^@ NM_213653.3(HFE2):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/293470 ^@ NM_005149.2(TBX19):c.603+10_603+11insTTGT http://identifiers.org/clinvar/292470 ^@ NM_005267.4(GJA8):c.994G>A (p.Glu332Lys) http://identifiers.org/clinvar/292570 ^@ NM_019032.5(ADAMTSL4):c.*276G>A http://identifiers.org/clinvar/292520 ^@ NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=) http://identifiers.org/clinvar/292620 ^@ NM_000449.3(RFX5):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/293570 ^@ NM_000130.4(F5):c.*104A>C http://identifiers.org/clinvar/293370 ^@ NM_006182.2(DDR2):c.-219T>C http://identifiers.org/clinvar/292720 ^@ NM_001111.4(ADAR):c.*1566T>G http://identifiers.org/clinvar/292820 ^@ NM_000298.5(PKLR):c.111G>T (p.Gly37=) http://identifiers.org/clinvar/293670 ^@ NM_152281.2(GORAB):c.*771A>T http://identifiers.org/clinvar/293720 ^@ NM_000261.1(MYOC):c.304T>A (p.Leu102Met) http://identifiers.org/clinvar/293120 ^@ NM_002241.4(KCNJ10):c.296T>C (p.Leu99Pro) http://identifiers.org/clinvar/293070 ^@ NM_002241.4(KCNJ10):c.*3770C>T http://identifiers.org/clinvar/293270 ^@ NM_004550.4(NDUFS2):c.95+14C>T http://identifiers.org/clinvar/293420 ^@ NM_004431.4(EPHA2):c.1892T>C (p.Met631Thr) http://identifiers.org/clinvar/293520 ^@ NM_006996.2(SLC19A2):c.*60G>A http://identifiers.org/clinvar/293620 ^@ NM_000130.4(F5):c.2247_2249delAGA (p.Glu750del) http://identifiers.org/clinvar/295159 ^@ NM_005216.4(DDOST):c.199C>T (p.Leu67=) http://identifiers.org/clinvar/335815 ^@ NM_000348.3(SRD5A2):c.*91C>T http://identifiers.org/clinvar/344201 ^@ NM_198407.2(GHSR):c.271C>T (p.Leu91Phe) http://identifiers.org/clinvar/335865 ^@ NM_014946.3(SPAST):c.*1545T>G http://identifiers.org/clinvar/344351 ^@ NM_005787.5(ALG3):c.846G>A (p.Ala282=) http://identifiers.org/clinvar/344601 ^@ NM_000461.4(THRB):c.*2030T>C http://identifiers.org/clinvar/343801 ^@ NM_174878.2(CLRN1):c.*884A>C http://identifiers.org/clinvar/343851 ^@ NM_005677.3(COLQ):c.561C>T (p.Ser187=) http://identifiers.org/clinvar/345051 ^@ NM_001106.3(ACVR2B):c.*9399_*9435del37insATT http://identifiers.org/clinvar/344151 ^@ NM_000340.1(SLC2A2):c.*474A>G http://identifiers.org/clinvar/344451 ^@ NM_006580.3(CLDN16):c.880G>A (p.Glu294Lys) http://identifiers.org/clinvar/344651 ^@ NM_003242.5(TGFBR2):c.-228C>A http://identifiers.org/clinvar/344701 ^@ NM_003242.5(TGFBR2):c.*1809A>G http://identifiers.org/clinvar/344751 ^@ NM_015141.3(GPD1L):c.*1074C>G http://identifiers.org/clinvar/344801 ^@ NM_006371.4(CRTAP):c.-88C>T http://identifiers.org/clinvar/337282 ^@ NM_000821.6(GGCX):c.-23C>T http://identifiers.org/clinvar/345001 ^@ NM_001106.3(ACVR2B):c.*5469A>G http://identifiers.org/clinvar/337182 ^@ NM_000821.6(GGCX):c.*4288G>C http://identifiers.org/clinvar/345940 ^@ NM_000387.5(SLC25A20):c.779_781delAAG (p.Glu260del) http://identifiers.org/clinvar/337382 ^@ NM_022912.2(REEP1):c.*691G>A http://identifiers.org/clinvar/337482 ^@ NM_017849.3(TMEM127):c.*1406G>A http://identifiers.org/clinvar/346440 ^@ NM_198859.3(PRICKLE2):c.*2567A>T http://identifiers.org/clinvar/346540 ^@ NM_000248.3(MITF):c.*2588G>A http://identifiers.org/clinvar/342262 ^@ NM_033084.4(FANCD2):c.1179T>C (p.Thr393=) http://identifiers.org/clinvar/346840 ^@ NM_000306.3(POU1F1):c.605-5T>G http://identifiers.org/clinvar/346940 ^@ NM_177976.3(ARL6):c.-130C>G http://identifiers.org/clinvar/346990 ^@ NM_000097.5(CPOX):c.167C>T (p.Thr56Met) http://identifiers.org/clinvar/347140 ^@ NM_005327.4(HADH):c.*661dupT http://identifiers.org/clinvar/347240 ^@ NM_001963.5(EGF):c.1818T>C (p.His606=) http://identifiers.org/clinvar/345990 ^@ NM_002292.3(LAMB2):c.3198A>G (p.Pro1066=) http://identifiers.org/clinvar/342812 ^@ NM_000388.3(CASR):c.*640G>T http://identifiers.org/clinvar/347390 ^@ NM_003619.3(PRSS12):c.*75_*76delGA http://identifiers.org/clinvar/346090 ^@ NM_153281.1(HYAL1):c.-5G>A http://identifiers.org/clinvar/347440 ^@ NM_018699.3(PRDM5):c.1031-6dupT http://identifiers.org/clinvar/347490 ^@ NM_176824.2(BBS7):c.-19G>C http://identifiers.org/clinvar/347540 ^@ NM_152778.2(MFSD8):c.1516C>G (p.Leu506Val) http://identifiers.org/clinvar/346240 ^@ NM_003392.4(WNT5A):c.*1952_*1953dupTT http://identifiers.org/clinvar/346340 ^@ NM_001457.3(FLNB):c.4006C>T (p.Pro1336Ser) http://identifiers.org/clinvar/346490 ^@ NM_198859.3(PRICKLE2):c.-557C>T http://identifiers.org/clinvar/346590 ^@ NM_032682.5(FOXP1):c.*2302A>T http://identifiers.org/clinvar/346640 ^@ NM_032682.5(FOXP1):c.*39A>G http://identifiers.org/clinvar/346690 ^@ NM_002942.4(ROBO2):c.1833T>C (p.Asp611=) http://identifiers.org/clinvar/346790 ^@ NM_000158.3(GBE1):c.1392C>T (p.Leu464=) http://identifiers.org/clinvar/353967 ^@ NM_001104631.1(PDE4D):c.*1268T>C http://identifiers.org/clinvar/354017 ^@ NM_000082.3(ERCC8):c.472T>C (p.Leu158=) http://identifiers.org/clinvar/354067 ^@ NM_017755.5(NSUN2):c.-130G>A http://identifiers.org/clinvar/353817 ^@ NM_002203.3(ITGA2):c.*2089G>C http://identifiers.org/clinvar/354167 ^@ NM_003719.3(PDE8B):c.2115C>T (p.Phe705=) http://identifiers.org/clinvar/354317 ^@ NM_000046.3(ARSB):c.-187G>A http://identifiers.org/clinvar/358596 ^@ NM_014491.3(FOXP2):c.-293C>T http://identifiers.org/clinvar/354417 ^@ NM_004385.4(VCAN):c.3264A>G (p.Pro1088=) http://identifiers.org/clinvar/354467 ^@ NM_004385.4(VCAN):c.9880+11C>A http://identifiers.org/clinvar/362555 ^@ NM_003018.3(SFTPC):c.228G>A (p.Pro76=) http://identifiers.org/clinvar/358696 ^@ NM_001127500.2(MET):c.*76C>T http://identifiers.org/clinvar/354217 ^@ NM_003664.4(AP3B1):c.*107T>A http://identifiers.org/clinvar/362605 ^@ NM_006129.4(BMP1):c.2803C>T (p.Leu935=) http://identifiers.org/clinvar/354267 ^@ NM_000046.3(ARSB):c.*2637_*2639dupCCT http://identifiers.org/clinvar/354567 ^@ NM_002397.4(MEF2C):c.*2700T>C http://identifiers.org/clinvar/358946 ^@ NM_018718.2(CEP41):c.-41C>T http://identifiers.org/clinvar/354517 ^@ NM_002890.2(RASA1):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/362905 ^@ NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) http://identifiers.org/clinvar/354767 ^@ NM_020381.3(PDSS2):c.715A>C (p.Thr239Pro) http://identifiers.org/clinvar/354667 ^@ NM_005068.2(SIM1):c.*583G>C http://identifiers.org/clinvar/359296 ^@ NM_000238.3(KCNH2):c.*367C>A http://identifiers.org/clinvar/354917 ^@ NM_007214.4(SEC63):c.237G>A (p.Leu79=) http://identifiers.org/clinvar/359346 ^@ NM_016203.3(PRKAG2):c.429G>A (p.Ser143=) http://identifiers.org/clinvar/354867 ^@ NM_007214.4(SEC63):c.*1612T>C http://identifiers.org/clinvar/363355 ^@ NM_017813.4(IMPAD1):c.*2993C>G http://identifiers.org/clinvar/359496 ^@ NM_001101426.3(ISPD):c.*3261A>G http://identifiers.org/clinvar/355067 ^@ NM_000493.3(COL10A1):c.*1106G>A http://identifiers.org/clinvar/354967 ^@ NM_014028.3(OSTM1):c.*1161G>A http://identifiers.org/clinvar/355017 ^@ NM_004752.3(GCM2):c.344-12T>C http://identifiers.org/clinvar/363755 ^@ NM_018972.2(GDAP1):c.*1976C>T http://identifiers.org/clinvar/364344 ^@ NM_005502.3(ABCA1):c.*1657C>T http://identifiers.org/clinvar/364944 ^@ NM_002316.3(LMX1B):c.*1737T>C http://identifiers.org/clinvar/365044 ^@ NM_003165.3(STXBP1):c.-194G>A http://identifiers.org/clinvar/365244 ^@ NM_054012.3(ASS1):c.-203C>G http://identifiers.org/clinvar/365294 ^@ NM_007171.3(POMT1):c.*421G>A http://identifiers.org/clinvar/365394 ^@ NM_000368.4(TSC1):c.*4356C>T http://identifiers.org/clinvar/356657 ^@ NM_005943.5(MOCS1):c.729G>A (p.Val243=) http://identifiers.org/clinvar/365694 ^@ NM_000787.3(DBH):c.*845G>A http://identifiers.org/clinvar/356857 ^@ NM_014780.4(CUL7):c.249C>T (p.Gly83=) http://identifiers.org/clinvar/356707 ^@ NM_002098.5(GUCA1B):c.*961A>C http://identifiers.org/clinvar/365744 ^@ NM_000093.4(COL5A1):c.*190G>A http://identifiers.org/clinvar/356807 ^@ NM_000287.3(PEX6):c.-39G>A http://identifiers.org/clinvar/357007 ^@ NM_006502.2(POLH):c.*5007T>A http://identifiers.org/clinvar/303086 ^@ NM_006918.4(SC5D):c.*2962delT http://identifiers.org/clinvar/311124 ^@ NM_001846.3(COL4A2):c.1328C>G (p.Pro443Arg) http://identifiers.org/clinvar/303186 ^@ NM_018400.3(SCN3B):c.*548C>T http://identifiers.org/clinvar/367313 ^@ NM_017662.4(TRPM6):c.2445T>C (p.His815=) http://identifiers.org/clinvar/303386 ^@ NM_016952.4(CDON):c.*3481C>T http://identifiers.org/clinvar/303486 ^@ NM_016952.4(CDON):c.*249G>A http://identifiers.org/clinvar/367513 ^@ NM_004560.3(ROR2):c.744G>A (p.Pro248=) http://identifiers.org/clinvar/303636 ^@ NM_000890.3(KCNJ5):c.*103G>C http://identifiers.org/clinvar/303686 ^@ NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) http://identifiers.org/clinvar/367663 ^@ NM_000264.3(PTCH1):c.4152G>A (p.Pro1384=) http://identifiers.org/clinvar/303886 ^@ NM_181507.1(HPS5):c.1549A>C (p.Lys517Gln) http://identifiers.org/clinvar/367284 ^@ NM_017662.4(TRPM6):c.*737A>G http://identifiers.org/clinvar/298498 ^@ NM_021830.4(TWNK):c.492C>T (p.Leu164=) http://identifiers.org/clinvar/367413 ^@ NM_033305.2(VPS13A):c.7457T>C (p.Ile2486Thr) http://identifiers.org/clinvar/304186 ^@ NM_022725.3(FANCF):c.*709G>T http://identifiers.org/clinvar/298948 ^@ NM_004281.3(BAG3):c.-293T>A http://identifiers.org/clinvar/314523 ^@ NM_013382.5(POMT2):c.*1603C>T http://identifiers.org/clinvar/314573 ^@ NM_004863.3(SPTLC2):c.*5989dupA http://identifiers.org/clinvar/314623 ^@ NM_004863.3(SPTLC2):c.*2699C>A http://identifiers.org/clinvar/315073 ^@ NM_177438.2(DICER1):c.*1825A>C http://identifiers.org/clinvar/315123 ^@ NM_003384.2(VRK1):c.901A>G (p.Lys301Glu) http://identifiers.org/clinvar/315273 ^@ NM_139057.3(ADAMTS17):c.2040C>T (p.Ile680=) http://identifiers.org/clinvar/306077 ^@ NM_005472.4(KCNE3):c.*171G>A http://identifiers.org/clinvar/315423 ^@ NM_144599.4(NIPA1):c.753G>C (p.Ala251=) http://identifiers.org/clinvar/315673 ^@ NM_005159.4(ACTC1):c.*875G>C http://identifiers.org/clinvar/306491 ^@ NM_005591.3(MRE11):c.914G>A (p.Arg305Gln) http://identifiers.org/clinvar/315823 ^@ NM_002225.3(IVD):c.*1893delG http://identifiers.org/clinvar/317613 ^@ NM_000875.4(IGF1R):c.*5712G>A http://identifiers.org/clinvar/329196 ^@ NM_033064.4(ATCAY):c.*2586A>G http://identifiers.org/clinvar/329246 ^@ NM_181882.2(PRX):c.4157C>A (p.Pro1386His) http://identifiers.org/clinvar/317763 ^@ NM_004862.3(LITAF):c.*816dupT http://identifiers.org/clinvar/309880 ^@ NM_012064.3(MIP):c.*148delT http://identifiers.org/clinvar/317963 ^@ NM_001287.5(CLCN7):c.350C>T (p.Thr117Met) http://identifiers.org/clinvar/318063 ^@ NM_001143979.1(NDE1):c.700C>T (p.Arg234Cys) http://identifiers.org/clinvar/318265 ^@ NM_004970.2(IGFALS):c.210T>C (p.Asp70=) http://identifiers.org/clinvar/330135 ^@ NM_024075.4(TSEN34):c.*358T>C http://identifiers.org/clinvar/330185 ^@ NM_206828.3(NLRP7):c.336G>C (p.Ser112=) http://identifiers.org/clinvar/330485 ^@ NM_020533.2(MCOLN1):c.16G>T (p.Gly6Cys) http://identifiers.org/clinvar/330585 ^@ NM_030957.3(ADAMTS10):c.2423T>G (p.Leu808Arg) http://identifiers.org/clinvar/306741 ^@ NM_018979.3(WNK1):c.*2615_*2618dupCTTA http://identifiers.org/clinvar/319254 ^@ NM_032575.2(GLIS2):c.*1176C>T http://identifiers.org/clinvar/319805 ^@ NM_001043.3(SLC6A2):c.1389+9G>A http://identifiers.org/clinvar/319955 ^@ NM_000339.2(SLC12A3):c.*1674C>T http://identifiers.org/clinvar/320005 ^@ NM_020312.3(COQ9):c.240C>G (p.Pro80=) http://identifiers.org/clinvar/320055 ^@ NM_001297.4(CNGB1):c.3639G>C (p.Glu1213Asp) http://identifiers.org/clinvar/320105 ^@ NM_001297.4(CNGB1):c.534+7C>G http://identifiers.org/clinvar/320205 ^@ NM_001793.5(CDH3):c.-646_-645insA http://identifiers.org/clinvar/320355 ^@ NM_001605.2(AARS):c.91A>G (p.Thr31Ala) http://identifiers.org/clinvar/338972 ^@ NM_004738.4(VAPB):c.*3274C>T http://identifiers.org/clinvar/320455 ^@ NM_001361.4(DHODH):c.*841G>A http://identifiers.org/clinvar/320505 ^@ NM_021615.4(CHST6):c.*5445G>A http://identifiers.org/clinvar/339372 ^@ NM_025219.2(DNAJC5):c.*728G>A http://identifiers.org/clinvar/339472 ^@ NM_012469.3(PRPF6):c.1209G>A (p.Ser403=) http://identifiers.org/clinvar/321055 ^@ NM_001127464.2(ZNF469):c.*665G>A http://identifiers.org/clinvar/339672 ^@ NM_178817.3(MRAP):c.-156C>T http://identifiers.org/clinvar/339872 ^@ NM_001754.4(RUNX1):c.*70T>C http://identifiers.org/clinvar/340022 ^@ NM_020639.2(RIPK4):c.1243G>A (p.Val415Met) http://identifiers.org/clinvar/340222 ^@ NM_130445.3(COL18A1):c.1453-6G>A http://identifiers.org/clinvar/326507 ^@ NM_001943.4(DSG2):c.*608G>A http://identifiers.org/clinvar/326707 ^@ NM_032978.6(DTNA):c.*2413C>T http://identifiers.org/clinvar/328446 ^@ NM_173483.3(CYP4F22):c.1270+5C>T http://identifiers.org/clinvar/328596 ^@ NM_005535.2(IL12RB1):c.684C>T (p.Pro228=) http://identifiers.org/clinvar/367863 ^@ NM_001167.3(XIAP):c.*6422T>A http://identifiers.org/clinvar/328696 ^@ NM_001031726.3(C19orf12):c.*1557T>C http://identifiers.org/clinvar/367963 ^@ NM_003413.3(ZIC3):c.*2024G>C http://identifiers.org/clinvar/368213 ^@ NM_004006.2(DMD):c.*1447A>G http://identifiers.org/clinvar/329096 ^@ NM_000540.2(RYR1):c.10259+10G>A http://identifiers.org/clinvar/327596 ^@ NM_133459.3(CCBE1):c.*4426delC http://identifiers.org/clinvar/327846 ^@ NM_005786.5(TSHZ1):c.2371G>A (p.Ala791Thr) http://identifiers.org/clinvar/328096 ^@ NM_000527.4(LDLR):c.*1340C>A http://identifiers.org/clinvar/328346 ^@ NM_000156.5(GAMT):c.*146A>C http://identifiers.org/clinvar/330285 ^@ NM_000064.3(C3):c.4311C>T (p.Ala1437=) http://identifiers.org/clinvar/330335 ^@ NM_000064.3(C3):c.774-4G>A http://identifiers.org/clinvar/330435 ^@ NM_000208.3(INSR):c.*224C>T http://identifiers.org/clinvar/330535 ^@ NM_006702.4(PNPLA6):c.3378G>C (p.Leu1126=) http://identifiers.org/clinvar/328746 ^@ NM_014270.4(SLC7A9):c.1161C>T (p.Gly387=) http://identifiers.org/clinvar/329146 ^@ NM_033064.4(ATCAY):c.555C>A (p.Gly185=) http://identifiers.org/clinvar/339172 ^@ NM_017671.4(FERMT1):c.*2108delC http://identifiers.org/clinvar/339222 ^@ NM_017671.4(FERMT1):c.834C>T (p.Phe278=) http://identifiers.org/clinvar/330235 ^@ NM_175614.4(NDUFA11):c.*55G>C http://identifiers.org/clinvar/330385 ^@ NM_000208.3(INSR):c.*2502A>G http://identifiers.org/clinvar/339622 ^@ NM_000484.3(APP):c.*913C>G http://identifiers.org/clinvar/340122 ^@ NM_000100.3(CSTB):c.-42C>T http://identifiers.org/clinvar/340172 ^@ NM_000211.4(ITGB2):c.499+7C>T http://identifiers.org/clinvar/340962 ^@ NM_022081.5(HPS4):c.*1762G>A http://identifiers.org/clinvar/341012 ^@ NM_022081.5(HPS4):c.931C>A (p.Pro311Thr) http://identifiers.org/clinvar/341062 ^@ NM_000268.3(NF2):c.-268G>T http://identifiers.org/clinvar/339072 ^@ NM_001001433.2(STX16):c.*1232A>G http://identifiers.org/clinvar/341212 ^@ NM_000355.3(TCN2):c.1058C>G (p.Ser353Cys) http://identifiers.org/clinvar/339272 ^@ NM_001853.3(COL9A3):c.445C>A (p.Leu149Ile) http://identifiers.org/clinvar/341262 ^@ NM_000343.3(SLC5A1):c.1836A>G (p.Leu612=) http://identifiers.org/clinvar/339322 ^@ NM_172107.3(KCNQ2):c.*421C>T http://identifiers.org/clinvar/339522 ^@ NM_015192.3(PLCB1):c.*381G>A http://identifiers.org/clinvar/341512 ^@ NM_002473.5(MYH9):c.3638C>G (p.Ala1213Gly) http://identifiers.org/clinvar/341612 ^@ NM_006941.3(SOX10):c.*643A>G http://identifiers.org/clinvar/339772 ^@ NM_000219.5(KCNE1):c.54G>A (p.Gln18=) http://identifiers.org/clinvar/339822 ^@ NM_001754.4(RUNX1):c.*2768A>C http://identifiers.org/clinvar/341862 ^@ NM_001429.3(EP300):c.*966_*967dupAC http://identifiers.org/clinvar/341962 ^@ NM_025225.2(PNPLA3):c.*990T>A http://identifiers.org/clinvar/384814 ^@ NM_000739.2(CHRM2):c.-130C>T http://identifiers.org/clinvar/391852 ^@ NM_022124.5(CDH23):c.7054+1G>A http://identifiers.org/clinvar/387653 ^@ NM_020822.2(KCNT1):c.-27C>T http://identifiers.org/clinvar/379626 ^@ NM_000790.3(DDC):c.1073G>A (p.Arg358His) http://identifiers.org/clinvar/381870 ^@ NM_001101.3(ACTB):c.426G>T (p.Leu142=) http://identifiers.org/clinvar/388553 ^@ NM_000051.3(ATM):c.8151+8T>C http://identifiers.org/clinvar/385114 ^@ NM_000535.6(PMS2):c.1422A>C (p.Ala474=) http://identifiers.org/clinvar/382572 ^@ NM_000535.6(PMS2):c.354-19G>A http://identifiers.org/clinvar/391902 ^@ NM_014000.2(VCL):c.1652T>C (p.Leu551Pro) http://identifiers.org/clinvar/378079 ^@ NM_007078.2(LDB3):c.162C>T (p.Gly54=) http://identifiers.org/clinvar/379076 ^@ NM_001033855.2(DCLRE1C):c.227G>C (p.Arg76Thr) http://identifiers.org/clinvar/391252 ^@ NM_024649.4(BBS1):c.1772C>T (p.Ala591Val) http://identifiers.org/clinvar/382772 ^@ NM_000051.3(ATM):c.3285-12G>A http://identifiers.org/clinvar/385414 ^@ NM_000051.3(ATM):c.1607+16A>G http://identifiers.org/clinvar/388303 ^@ NM_000051.3(ATM):c.3576+10G>A http://identifiers.org/clinvar/391502 ^@ NM_000051.3(ATM):c.4518G>A (p.Val1506=) http://identifiers.org/clinvar/391702 ^@ NM_001844.4(COL2A1):c.1787G>A (p.Arg596His) http://identifiers.org/clinvar/384024 ^@ NM_000093.4(COL5A1):c.3366+18T>C http://identifiers.org/clinvar/379126 ^@ NM_000059.3(BRCA2):c.492G>A (p.Leu164=) http://identifiers.org/clinvar/385864 ^@ NM_024678.5(NARS2):c.142-20G>C http://identifiers.org/clinvar/381619 ^@ NM_006231.3(POLE):c.2289C>T (p.Asp763=) http://identifiers.org/clinvar/391052 ^@ NM_012463.3(ATP6V0A2):c.1724+20T>A http://identifiers.org/clinvar/382070 ^@ NM_001160147.1(DDHD1):c.204G>A (p.Ala68=) http://identifiers.org/clinvar/378725 ^@ NM_004612.3(TGFBR1):c.574+18C>T http://identifiers.org/clinvar/379776 ^@ NM_007078.2(LDB3):c.1858-7C>G http://identifiers.org/clinvar/383573 ^@ NM_004329.2(BMPR1A):c.1434T>A (p.Arg478=) http://identifiers.org/clinvar/383974 ^@ NM_001376.4(DYNC1H1):c.4075-6C>T http://identifiers.org/clinvar/382471 ^@ NM_024537.3(CARS2):c.920-18C>T http://identifiers.org/clinvar/379726 ^@ NM_001376.4(DYNC1H1):c.4170G>T (p.Leu1390=) http://identifiers.org/clinvar/391352 ^@ NM_000059.3(BRCA2):c.67+18A>G http://identifiers.org/clinvar/377577 ^@ NM_000059.3(BRCA2):c.793+18T>C http://identifiers.org/clinvar/384124 ^@ NM_000059.3(BRCA2):c.4833G>A (p.Val1611=) http://identifiers.org/clinvar/383924 ^@ NM_020751.2(COG6):c.1693-13T>C http://identifiers.org/clinvar/385464 ^@ NM_000814.5(GABRB3):c.-806G>C http://identifiers.org/clinvar/387803 ^@ NM_000548.4(TSC2):c.2528T>C (p.Leu843Pro) http://identifiers.org/clinvar/379927 ^@ NM_015272.4(RPGRIP1L):c.1700-1G>A http://identifiers.org/clinvar/388603 ^@ NM_144599.4(NIPA1):c.906C>T (p.Ser302=) http://identifiers.org/clinvar/385514 ^@ NM_152594.2(SPRED1):c.384C>T (p.Pro128=) http://identifiers.org/clinvar/381920 ^@ NM_000138.4(FBN1):c.5358T>C (p.Val1786=) http://identifiers.org/clinvar/382120 ^@ NM_000833.4(GRIN2A):c.-209-6C>T http://identifiers.org/clinvar/384964 ^@ NM_006231.3(POLE):c.4026C>T (p.Ala1342=) http://identifiers.org/clinvar/381519 ^@ NM_002693.2(POLG):c.2125C>T (p.Arg709Ter) http://identifiers.org/clinvar/47429 ^@ NM_133378.4(TTN):c.75969T>C (p.Gly25323=) http://identifiers.org/clinvar/47479 ^@ NM_001256850.1(TTN):c.83536G>A (p.Val27846Met) http://identifiers.org/clinvar/47529 ^@ NM_133378.4(TTN):c.85197C>T (p.Ser28399=) http://identifiers.org/clinvar/47579 ^@ NM_001256850.1(TTN):c.92176C>T (p.Arg30726Cys) http://identifiers.org/clinvar/47629 ^@ NM_133378.4(TTN):c.92875G>A (p.Val30959Ile) http://identifiers.org/clinvar/47679 ^@ NM_133378.4(TTN):c.9713C>T (p.Pro3238Leu) http://identifiers.org/clinvar/47779 ^@ NM_133379.4(TTN):c.14902G>A (p.Asp4968Asn) http://identifiers.org/clinvar/47829 ^@ NM_001256850.1(TTN):c.11782A>C (p.Asn3928His) http://identifiers.org/clinvar/47879 ^@ NM_138691.2(TMC1):c.841G>T (p.Gly281Trp) http://identifiers.org/clinvar/47929 ^@ NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) http://identifiers.org/clinvar/47979 ^@ NM_153676.3(USH1C):c.1430G>A (p.Arg477Gln) http://identifiers.org/clinvar/48031 ^@ NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) http://identifiers.org/clinvar/48081 ^@ NM_005572.3(LMNA):c.784G>T (p.Glu262Ter) http://identifiers.org/clinvar/217 ^@ NM_000285.3(PEPD):c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs) http://identifiers.org/clinvar/272 ^@ NM_001134363.2(RBM20):c.1909A>G (p.Ser637Gly) http://identifiers.org/clinvar/612 ^@ NM_000277.1(PAH):c.1223G>A (p.Arg408Gln) http://identifiers.org/clinvar/716 ^@ NM_001109809.2(ZFP57):c.317_318delAG (p.Glu106Valfs) http://identifiers.org/clinvar/930 ^@ NM_000404.3(GLB1):c.1370G>A (p.Arg457Gln) http://identifiers.org/clinvar/935 ^@ NM_000404.3(GLB1):c.245C>T (p.Thr82Met) http://identifiers.org/clinvar/1053 ^@ NM_022489.3(INF2):c.641G>A (p.Arg214His) http://identifiers.org/clinvar/1062 ^@ NM_018122.4(DARS2):c.492+2T>C http://identifiers.org/clinvar/1572 ^@ NM_000263.3(NAGLU):c.700C>T (p.Arg234Cys) http://identifiers.org/clinvar/1618 ^@ NM_014780.4(CUL7):c.3379_3380delTG (p.Trp1127Glufs) http://identifiers.org/clinvar/1667 ^@ NM_000785.3(CYP27B1):c.589+1G>A http://identifiers.org/clinvar/1711 ^@ NM_000124.3(ERCC6):c.2047C>T (p.Arg683Ter) http://identifiers.org/clinvar/1759 ^@ NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) http://identifiers.org/clinvar/1808 ^@ CYP17A1, IVS3AS, 4-BP DEL http://identifiers.org/clinvar/1853 ^@ NM_152783.4(D2HGDH):c.440T>G (p.Ile147Ser) http://identifiers.org/clinvar/1899 ^@ NM_000060.4(BTD):c.100G>A (p.Gly34Ser) http://identifiers.org/clinvar/1943 ^@ NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg) http://identifiers.org/clinvar/1989 ^@ NM_144966.5(FREM1):c.1945C>T (p.Arg649Trp) http://identifiers.org/clinvar/2032 ^@ NM_017780.3(CHD7):c.6322G>A (p.Gly2108Arg) http://identifiers.org/clinvar/2078 ^@ NM_020435.3(GJC2):c.108C>G (p.Ile36Met) http://identifiers.org/clinvar/2123 ^@ NM_207346.2(TSEN54):c.1027C>T (p.Gln343Ter) http://identifiers.org/clinvar/2215 ^@ NM_000551.3(VHL):c.548C>A (p.Ser183Ter) http://identifiers.org/clinvar/2260 ^@ NM_000101.3(CYBA):c.467C>A (p.Pro156Gln) http://identifiers.org/clinvar/2306 ^@ NM_005609.3(PYGM):c.2056G>A (p.Gly686Arg) http://identifiers.org/clinvar/2351 ^@ NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) http://identifiers.org/clinvar/2398 ^@ NM_000048.3(ASL):c.283C>T (p.Arg95Cys) http://identifiers.org/clinvar/2442 ^@ NM_001173464.1(KIF21A):c.2841G>A (p.Met947Ile) http://identifiers.org/clinvar/2489 ^@ NM_018249.5(CDK5RAP2):c.4005-15A>G http://identifiers.org/clinvar/2534 ^@ NM_022166.3(XYLT1):c.343G>T (p.Ala115Ser) http://identifiers.org/clinvar/2581 ^@ NM_000483.4(APOC2):c.122A>C (p.Lys41Thr) http://identifiers.org/clinvar/2627 ^@ NM_001037633.1(SIL1):c.1312C>T (p.Gln438Ter) http://identifiers.org/clinvar/2673 ^@ NM_182760.3(SUMF1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/2765 ^@ NM_024312.4(GNPTAB):c.3173C>G (p.Ser1058Ter) http://identifiers.org/clinvar/10159 ^@ NM_000132.3(F8):c.207_210delGTTT (p.Phe70Terfs) http://identifiers.org/clinvar/10203 ^@ NM_000132.3(F8):c.1078_1079delGA (p.Glu360Argfs) http://identifiers.org/clinvar/10249 ^@ NM_000132.3(F8):c.2945dupA (p.Asn982Lysfs) http://identifiers.org/clinvar/10294 ^@ NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) http://identifiers.org/clinvar/10339 ^@ F8, EX5-13DEL http://identifiers.org/clinvar/10388 ^@ NM_000402.4(G6PD):c.1058T>C (p.Leu353Pro) http://identifiers.org/clinvar/10436 ^@ NM_001097642.2(GJB1):c.89T>A (p.Ile30Asn) http://identifiers.org/clinvar/10484 ^@ NM_000032.4(ALAS2):c.595T>C (p.Tyr199His) http://identifiers.org/clinvar/10575 ^@ F9, IVS3DS, T-G http://identifiers.org/clinvar/10983 ^@ NM_001032383.1(PQBP1):c.547_569del23 (p.Glu183Glnfs) http://identifiers.org/clinvar/11027 ^@ NM_198270.3(NHS):c.115C>T (p.Gln39Ter) http://identifiers.org/clinvar/11449 ^@ NM_003639.4(IKBKG):c.1219A>G (p.Met407Val) http://identifiers.org/clinvar/11500 ^@ NM_003159.2(CDKL5):c.2500C>T (p.Gln834Ter) http://identifiers.org/clinvar/11551 ^@ NM_001159702.2(FHL1):c.395G>T (p.Cys132Phe) http://identifiers.org/clinvar/11601 ^@ NM_178152.2(DCX):c.176G>T (p.Arg59Leu) http://identifiers.org/clinvar/11651 ^@ NM_004586.2(RPS6KA3):c.224G>T (p.Gly75Val) http://identifiers.org/clinvar/11702 ^@ NM_005629.3(SLC6A8):c.1011C>G (p.Cys337Trp) http://identifiers.org/clinvar/12556 ^@ THRB, LEU325PHE http://identifiers.org/clinvar/12607 ^@ NM_005343.3(HRAS):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/12657 ^@ NM_001256850.1(TTN):c.12157C>T (p.Gln4053Ter) http://identifiers.org/clinvar/12708 ^@ NM_004614.4(TK2):c.361C>A (p.His121Asn) http://identifiers.org/clinvar/12759 ^@ SURF1, 2-BP INS/10-BP DEL, NT326 http://identifiers.org/clinvar/13011 ^@ GRK1, 4-BP DEL http://identifiers.org/clinvar/13062 ^@ RHAG, IVS6, G-A, -1 http://identifiers.org/clinvar/13113 ^@ RPE65, 1-BP DEL, 1067A http://identifiers.org/clinvar/13164 ^@ NM_000322.4(PRPH2):c.647C>T (p.Pro216Leu) http://identifiers.org/clinvar/13215 ^@ NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) http://identifiers.org/clinvar/13266 ^@ NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg) http://identifiers.org/clinvar/13317 ^@ NM_000313.3(PROS1):c.773A>G (p.Asn258Ser) http://identifiers.org/clinvar/13367 ^@ NM_001042465.2(PSAP):c.643A>C (p.Asn215His) http://identifiers.org/clinvar/13421 ^@ NM_000371.3(TTR):c.238A>G (p.Thr80Ala) http://identifiers.org/clinvar/13473 ^@ NM_004977.2(KCNC3):c.1259G>A (p.Arg420His) http://identifiers.org/clinvar/13523 ^@ PKD2, 1-BP INS, 197-203C http://identifiers.org/clinvar/37142 ^@ ZNF750, -625A-C http://identifiers.org/clinvar/37292 ^@ CDHR1, 1-BP DEL, 338G http://identifiers.org/clinvar/37377 ^@ NM_005732.3(RAD50):c.2156dupT (p.Glu723Glyfs*5) http://identifiers.org/clinvar/37428 ^@ NM_007294.3(BRCA1):c.1728dupA (p.Glu577Argfs) http://identifiers.org/clinvar/37480 ^@ NM_007294.3(BRCA1):c.2677A>T (p.Lys893Ter) http://identifiers.org/clinvar/37538 ^@ NM_007294.3(BRCA1):c.3671_3672ins4 http://identifiers.org/clinvar/37591 ^@ NM_007294.3(BRCA1):c.4402A>G (p.Asn1468Asp) http://identifiers.org/clinvar/37643 ^@ NM_007294.3(BRCA1):c.5153-1G>C http://identifiers.org/clinvar/37700 ^@ NM_007294.3(BRCA1):c.81-13C>A http://identifiers.org/clinvar/37751 ^@ NM_000059.3(BRCA2):c.167A>C (p.Asn56Thr) http://identifiers.org/clinvar/37805 ^@ NM_000059.3(BRCA2):c.2827A>G (p.Ile943Val) http://identifiers.org/clinvar/37856 ^@ NM_000059.3(BRCA2):c.3744_3747delTGAG (p.Ser1248Argfs) http://identifiers.org/clinvar/37910 ^@ NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) http://identifiers.org/clinvar/37963 ^@ NM_000059.3(BRCA2):c.5410_5411delGT (p.Val1804Lysfs) http://identifiers.org/clinvar/38014 ^@ NM_000059.3(BRCA2):c.6020C>A (p.Thr2007Asn) http://identifiers.org/clinvar/38069 ^@ NM_000059.3(BRCA2):c.6842-20T>A http://identifiers.org/clinvar/38119 ^@ NM_000059.3(BRCA2):c.778_779delGA (p.Glu260Serfs) http://identifiers.org/clinvar/38169 ^@ NM_000059.3(BRCA2):c.8575delC (p.Gln2859Lysfs) http://identifiers.org/clinvar/38219 ^@ NM_000059.3(BRCA2):c.9195T>A (p.Phe3065Leu) http://identifiers.org/clinvar/38275 ^@ NM_000060.4(BTD):c.629A>G (p.Tyr210Cys) http://identifiers.org/clinvar/38333 ^@ NM_001146040.1(GLRA1):c.892T>A (p.Ser298Thr) http://identifiers.org/clinvar/38389 ^@ NM_006796.2(AFG3L2):c.1997T>C (p.Met666Thr) http://identifiers.org/clinvar/38452 ^@ NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) http://identifiers.org/clinvar/38612 ^@ NM_020975.4(RET):c.2370G>T (p.Leu790Phe) http://identifiers.org/clinvar/38771 ^@ NM_000495.3(COL4A5):c.2918-?_5058+?del http://identifiers.org/clinvar/38884 ^@ NM_000532.4(PCCB):c.457G>C (p.Ala153Pro) http://identifiers.org/clinvar/38945 ^@ NM_001363.4(DKC1):c.194G>C (p.Arg65Thr) http://identifiers.org/clinvar/39712 ^@ NM_018486.2(HDAC8):c.932C>T (p.Thr311Met) http://identifiers.org/clinvar/39763 ^@ MEN1, IVS3DS, G-A, +1 http://identifiers.org/clinvar/39813 ^@ KCNV2, EX1 DEL http://identifiers.org/clinvar/39864 ^@ NM_001845.5(COL4A1):c.1612C>G (p.Arg538Gly) http://identifiers.org/clinvar/40048 ^@ NM_004247.3(EFTUD2):c.2823+1del http://identifiers.org/clinvar/40203 ^@ NM_000693.3(ALDH1A3):c.265C>T (p.Arg89Cys) http://identifiers.org/clinvar/40339 ^@ NM_004333.4(BRAF):c.325T>A (p.Phe109Ile) http://identifiers.org/clinvar/40414 ^@ NM_005188.3(CBL):c.1823C>A (p.Pro608His) http://identifiers.org/clinvar/40482 ^@ NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala) http://identifiers.org/clinvar/40539 ^@ NM_002834.4(PTPN11):c.996C>T (p.Gly332=) http://identifiers.org/clinvar/40601 ^@ NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) http://identifiers.org/clinvar/40671 ^@ NM_005633.3(SOS1):c.1300_1301delGGinsAA (p.Gly434Lys) http://identifiers.org/clinvar/40756 ^@ NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val) http://identifiers.org/clinvar/40886 ^@ NM_007074.3(CORO1A):c.248_249delCT (p.Pro83Argfs) http://identifiers.org/clinvar/41024 ^@ NM_000530.7(MPZ):c.670G>T (p.Asp224Tyr) http://identifiers.org/clinvar/41080 ^@ NM_003611.2(OFD1):c.1420C>T (p.Gln474Ter) http://identifiers.org/clinvar/41136 ^@ NM_003611.2(OFD1):c.654+2_654+4delTAA http://identifiers.org/clinvar/41188 ^@ NM_003977.3(AIP):c.550C>T (p.Gln184Ter) http://identifiers.org/clinvar/53404 ^@ NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) http://identifiers.org/clinvar/54259 ^@ NM_007294.3(BRCA1):c.1458T>A (p.Phe486Leu) http://identifiers.org/clinvar/54310 ^@ NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) http://identifiers.org/clinvar/54360 ^@ NM_007294.3(BRCA1):c.181T>C (p.Cys61Arg) http://identifiers.org/clinvar/54411 ^@ NM_007294.3(BRCA1):c.1952dupA (p.Lys652Glufs) http://identifiers.org/clinvar/54711 ^@ NM_007294.3(BRCA1):c.2899A>T (p.Thr967Ser) http://identifiers.org/clinvar/54761 ^@ NM_007294.3(BRCA1):c.3041T>A (p.Met1014Lys) http://identifiers.org/clinvar/54811 ^@ NM_007294.3(BRCA1):c.3257dupT (p.Leu1086Phefs) http://identifiers.org/clinvar/54861 ^@ NM_007294.3(BRCA1):c.3375_3376delTC (p.Pro1126Ilefs) http://identifiers.org/clinvar/54911 ^@ NM_007294.3(BRCA1):c.3541G>A (p.Val1181Ile) http://identifiers.org/clinvar/54963 ^@ NM_007294.3(BRCA1):c.3695_3698delGTAA (p.Gly1232Glufs) http://identifiers.org/clinvar/55014 ^@ NM_007294.3(BRCA1):c.3814_3815insT (p.Asn1272Ilefs) http://identifiers.org/clinvar/55064 ^@ NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) http://identifiers.org/clinvar/55115 ^@ NM_007294.3(BRCA1):c.4161_4162delTC (p.Gln1388Glufs) http://identifiers.org/clinvar/55166 ^@ NM_007294.3(BRCA1):c.4314C>G (p.Ala1438=) http://identifiers.org/clinvar/55217 ^@ NM_007294.3(BRCA1):c.44T>C (p.Ile15Thr) http://identifiers.org/clinvar/55267 ^@ NM_007294.3(BRCA1):c.470_477delCTAACCTT (p.Ser157Trpfs) http://identifiers.org/clinvar/55318 ^@ NM_007294.3(BRCA1):c.4931A>G (p.Glu1644Gly) http://identifiers.org/clinvar/55368 ^@ NM_007294.3(BRCA1):c.5062_5064delGTT (p.Val1688del) http://identifiers.org/clinvar/55418 ^@ NM_007294.3(BRCA1):c.5145C>G (p.Ser1715Arg) http://identifiers.org/clinvar/55468 ^@ NM_007294.3(BRCA1):c.5222T>G (p.Val1741Gly) http://identifiers.org/clinvar/55521 ^@ NM_007294.3(BRCA1):c.5317A>T (p.Thr1773Ser) http://identifiers.org/clinvar/55571 ^@ NM_007294.3(BRCA1):c.5419delA (p.Ile1807Leufs) http://identifiers.org/clinvar/55621 ^@ NM_007294.3(BRCA1):c.5538G>A (p.Gln1846=) http://identifiers.org/clinvar/55673 ^@ NM_007294.3(BRCA1):c.707C>G (p.Thr236Ser) http://identifiers.org/clinvar/55724 ^@ NM_007294.3(BRCA1):c.822T>A (p.Cys274Ter) http://identifiers.org/clinvar/55775 ^@ NM_007294.3(BRCA1):c.994C>T (p.Arg332Trp) http://identifiers.org/clinvar/55853 ^@ NM_001376.4(DYNC1H1):c.10008G>T (p.Lys3336Asn) http://identifiers.org/clinvar/55926 ^@ NM_006494.3(ERF):c.194G>A (p.Arg65Gln) http://identifiers.org/clinvar/55983 ^@ NM_000111.2(SLC26A3):c.1609delA (p.Ile537Phefs) http://identifiers.org/clinvar/56036 ^@ NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) http://identifiers.org/clinvar/56087 ^@ NM_000170.2(GLDC):c.2838+5G>A http://identifiers.org/clinvar/56141 ^@ NM_000274.3(OAT):c.991C>T (p.Arg331Ter) http://identifiers.org/clinvar/56192 ^@ NM_000310.3(PPT1):c.398delT (p.Met133Argfs) http://identifiers.org/clinvar/56243 ^@ NM_001042432.1(CLN3):c.1000C>T (p.Arg334Cys) http://identifiers.org/clinvar/57057 ^@ GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 http://identifiers.org/clinvar/57114 ^@ GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 http://identifiers.org/clinvar/57165 ^@ GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1 http://identifiers.org/clinvar/57217 ^@ GRCh38/hg38 Xq26.2-26.3(chrX:133909683-135211108)x1 http://identifiers.org/clinvar/57270 ^@ GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2 http://identifiers.org/clinvar/57322 ^@ GRCh38/hg38 13q22.1(chr13:73764880-73913556)x1 http://identifiers.org/clinvar/57376 ^@ GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 http://identifiers.org/clinvar/101193 ^@ NM_000090.3(COL3A1):c.1294-3T>G (p.Gly432_Arg449del) http://identifiers.org/clinvar/101243 ^@ NM_000090.3(COL3A1):c.1862G>T (p.Gly621Val) http://identifiers.org/clinvar/101293 ^@ NM_000090.3(COL3A1):c.1194+1G>A (p.Gly384_Met398del) http://identifiers.org/clinvar/101343 ^@ NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp) http://identifiers.org/clinvar/101493 ^@ NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp) http://identifiers.org/clinvar/102450 ^@ NM_020408.5(LYRM4):c.203G>T (p.Arg68Leu) http://identifiers.org/clinvar/102507 ^@ NM_000277.1(PAH):c.1065+97G>A http://identifiers.org/clinvar/102564 ^@ NM_000277.1(PAH):c.1200-1delG http://identifiers.org/clinvar/102616 ^@ NM_000277.1(PAH):c.176A>G (p.Asp59Gly) http://identifiers.org/clinvar/102670 ^@ NM_000277.1(PAH):c.440C>T (p.Pro147Leu) http://identifiers.org/clinvar/102721 ^@ NM_000277.1(PAH):c.521T>C (p.Ile174Thr) http://identifiers.org/clinvar/102771 ^@ NM_000277.1(PAH):c.649T>G (p.Cys217Gly) http://identifiers.org/clinvar/102822 ^@ NM_000277.1(PAH):c.746T>A (p.Leu249His) http://identifiers.org/clinvar/102874 ^@ NM_000277.1(PAH):c.844G>A (p.Asp282Asn) http://identifiers.org/clinvar/102924 ^@ NM_000277.1(PAH):c.990G>C (p.Glu330Asp) http://identifiers.org/clinvar/102982 ^@ NM_145007.3(NLRP11):c.-491C>T http://identifiers.org/clinvar/103032 ^@ NM_001033053.2(NLRP1):c.448+109C>G http://identifiers.org/clinvar/103082 ^@ NM_001199138.1(NLRC4):c.2782+38G>C http://identifiers.org/clinvar/103132 ^@ NM_024618.3(NLRX1):c.1473G>A (p.Val491=) http://identifiers.org/clinvar/103182 ^@ NM_032206.4(NLRC5):c.356-122C>T http://identifiers.org/clinvar/103232 ^@ NM_138329.2(NLRP6):c.1878C>T (p.Tyr626=) http://identifiers.org/clinvar/103282 ^@ NM_153447.4(NLRP5):c.2323T>C (p.Ser775Pro) http://identifiers.org/clinvar/103332 ^@ NM_176811.2(NLRP8):c.368-47C>T http://identifiers.org/clinvar/111206 ^@ NM_000416.2(IFNGR1):c.-255C>T http://identifiers.org/clinvar/111256 ^@ NM_005534.3(IFNGR2):c.74-3938C>T http://identifiers.org/clinvar/120214 ^@ NM_001955.4(EDN1):c.191T>A (p.Val64Asp) http://identifiers.org/clinvar/125478 ^@ NM_007294.3(BRCA1):c.-14T>C http://identifiers.org/clinvar/125555 ^@ NM_007294.3(BRCA1):c.2337_2338delTC (p.Gln780Glyfs) http://identifiers.org/clinvar/125637 ^@ NM_007294.3(BRCA1):c.3571_3572ins4 http://identifiers.org/clinvar/125707 ^@ NM_007294.3(BRCA1):c.4343G>A (p.Ser1448Asn) http://identifiers.org/clinvar/125772 ^@ NM_007294.3(BRCA1):c.5152+3_5152+4insT http://identifiers.org/clinvar/125846 ^@ NM_007294.3(BRCA1):c.5407-1G>C http://identifiers.org/clinvar/125903 ^@ NM_007294.3(BRCA1):c.670+8C>G http://identifiers.org/clinvar/126785 ^@ NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) http://identifiers.org/clinvar/126836 ^@ NM_000321.2(RB1):c.1346G>T (p.Gly449Val) http://identifiers.org/clinvar/126890 ^@ NM_017545.2(HAO1):c.137+329T>C http://identifiers.org/clinvar/126945 ^@ NM_001127464.2(ZNF469):c.7747G>A (p.Glu2583Lys) http://identifiers.org/clinvar/126995 ^@ NM_005732.3(RAD50):c.366-163T>C http://identifiers.org/clinvar/127045 ^@ NM_134424.3(RAD52):c.*395G>A http://identifiers.org/clinvar/127102 ^@ NM_001080517.2(SETD5):c.1195A>T (p.Lys399Ter) http://identifiers.org/clinvar/127169 ^@ NM_001101.3(ACTB):c.446C>T (p.Thr149Ile) http://identifiers.org/clinvar/127268 ^@ NC_000021.8:g.14714507_29216662dup14502156 http://identifiers.org/clinvar/127319 ^@ NM_000038.5(APC):c.7514G>A (p.Arg2505Gln) http://identifiers.org/clinvar/127369 ^@ NM_000051.3(ATM):c.3331C>G (p.Leu1111Val) http://identifiers.org/clinvar/127419 ^@ NM_000051.3(ATM):c.610G>A (p.Gly204Arg) http://identifiers.org/clinvar/127470 ^@ NM_000051.3(ATM):c.9112delC (p.Gln3038Argfs) http://identifiers.org/clinvar/127520 ^@ NM_000075.3(CDK4):c.776C>T (p.Ser259Leu) http://identifiers.org/clinvar/127570 ^@ NM_000179.2(MSH6):c.2419G>A (p.Glu807Lys) http://identifiers.org/clinvar/127621 ^@ NM_000249.3(MLH1):c.2074T>C (p.Ser692Pro) http://identifiers.org/clinvar/127677 ^@ NM_000314.6(PTEN):c.-843T>C http://identifiers.org/clinvar/127730 ^@ NM_000465.3(BARD1):c.2116A>G (p.Lys706Glu) http://identifiers.org/clinvar/127780 ^@ NM_000535.6(PMS2):c.2350G>A (p.Asp784Asn) http://identifiers.org/clinvar/160800 ^@ GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 http://identifiers.org/clinvar/160851 ^@ GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 http://identifiers.org/clinvar/160903 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 http://identifiers.org/clinvar/160955 ^@ GRCh38/hg38 2q13(chr2:110025659-110207160)x1 http://identifiers.org/clinvar/161006 ^@ GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3 http://identifiers.org/clinvar/161106 ^@ NM_030777.3(SLC2A10):c.691C>T (p.Arg231Trp) http://identifiers.org/clinvar/161156 ^@ NM_152296.4(ATP1A3):c.1144T>C (p.Trp382Arg) http://identifiers.org/clinvar/161338 ^@ NM_000312.3(PROC):c.160A>T (p.Ser54Cys) http://identifiers.org/clinvar/161388 ^@ NM_003002.3(SDHD):c.158C>T (p.Pro53Leu) http://identifiers.org/clinvar/161238 ^@ NM_000138.4(FBN1):c.7702G>A (p.Val2568Met) http://identifiers.org/clinvar/161288 ^@ NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) http://identifiers.org/clinvar/161507 ^@ NM_001042572.2(CHD2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/162564 ^@ NM_001079802.1(FKTN):c.-77A>G http://identifiers.org/clinvar/162666 ^@ NM_006726.4(LRBA):c.6657_6658delGA (p.Glu2219Aspfs) http://identifiers.org/clinvar/163865 ^@ NM_005572.3(LMNA):c.486G>A (p.Leu162=) http://identifiers.org/clinvar/177855 ^@ NM_000364.3(TNNT2):c.828C>A (p.Asn276Lys) http://identifiers.org/clinvar/179565 ^@ NM_206933.2(USH2A):c.14662A>T (p.Thr4888Ser) http://identifiers.org/clinvar/179215 ^@ NC_000001.11:g.(?_216086719)_(216097213_?)del http://identifiers.org/clinvar/162816 ^@ NM_001232.3(CASQ2):c.533-6C>T http://identifiers.org/clinvar/163750 ^@ NM_004700.3(KCNQ4):c.972G>A (p.Leu324=) http://identifiers.org/clinvar/178157 ^@ NM_001256850.1(TTN):c.97348C>T (p.Arg32450Trp) http://identifiers.org/clinvar/178814 ^@ NM_133378.4(TTN):c.84590G>C (p.Arg28197Thr) http://identifiers.org/clinvar/179965 ^@ NM_133378.4(TTN):c.41823A>G (p.Thr13941=) http://identifiers.org/clinvar/179665 ^@ NM_133378.4(TTN):c.39247A>G (p.Asn13083Asp) http://identifiers.org/clinvar/179815 ^@ NM_001103.3(ACTN2):c.506G>C (p.Arg169Thr) http://identifiers.org/clinvar/179415 ^@ NM_133378.4(TTN):c.66969G>C (p.Lys22323Asn) http://identifiers.org/clinvar/178915 ^@ NM_001256850.1(TTN):c.76642C>G (p.Leu25548Val) http://identifiers.org/clinvar/178207 ^@ NM_133378.4(TTN):c.43165A>G (p.Ile14389Val) http://identifiers.org/clinvar/178865 ^@ NM_001256850.1(TTN):c.38677C>T (p.Gln12893Ter) http://identifiers.org/clinvar/179265 ^@ NM_133378.4(TTN):c.35187C>T (p.Gly11729=) http://identifiers.org/clinvar/178257 ^@ NM_133432.3(TTN):c.12034G>A (p.Val4012Met) http://identifiers.org/clinvar/179115 ^@ NM_194248.2(OTOF):c.3178delG (p.Ala1060Glnfs) http://identifiers.org/clinvar/177805 ^@ NC_000003.12:g.(?_10149787)_(10149965_?)del http://identifiers.org/clinvar/163076 ^@ NM_005219.4(DIAPH1):c.621-7T>C http://identifiers.org/clinvar/229649 ^@ NM_001024847.2(TGFBR2):c.1621_1632delACGTTGACTGAG (p.Thr541_Glu544del) http://identifiers.org/clinvar/177704 ^@ NM_003242.5(TGFBR2):c.1067G>C (p.Arg356Pro) http://identifiers.org/clinvar/163280 ^@ NM_004415.3(DSP):c.5544G>A (p.Arg1848=) http://identifiers.org/clinvar/163126 ^@ NM_001277115.1(DNAH11):c.11298T>C (p.His3766=) http://identifiers.org/clinvar/198452 ^@ NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) http://identifiers.org/clinvar/198506 ^@ NM_004183.3(BEST1):c.797G>A (p.Gly266Asp) http://identifiers.org/clinvar/198557 ^@ NM_014014.4(SNRNP200):c.732C>T (p.Leu244=) http://identifiers.org/clinvar/198609 ^@ NM_080680.2(COL11A2):c.889G>A (p.Gly297Ser) http://identifiers.org/clinvar/198660 ^@ NM_032119.3(ADGRV1):c.15619G>A (p.Val5207Met) http://identifiers.org/clinvar/198711 ^@ NM_000288.3(PEX7):c.748-5delT http://identifiers.org/clinvar/198766 ^@ NM_001101426.3(ISPD):c.1054C>A (p.Gln352Lys) http://identifiers.org/clinvar/198818 ^@ NM_005272.3(GNAT2):c.933T>C (p.Asn311=) http://identifiers.org/clinvar/198873 ^@ NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) http://identifiers.org/clinvar/198927 ^@ NM_198843.2(SFTPB):c.862C>T (p.Arg288Trp) http://identifiers.org/clinvar/198978 ^@ NM_182914.2(SYNE2):c.16405C>A (p.Pro5469Thr) http://identifiers.org/clinvar/199029 ^@ NM_000489.4(ATRX):c.3091G>A (p.Gly1031Ser) http://identifiers.org/clinvar/199080 ^@ NM_002485.4(NBN):c.1124+18C>T http://identifiers.org/clinvar/199134 ^@ NM_015102.4(NPHP4):c.1079T>C (p.Leu360Pro) http://identifiers.org/clinvar/203083 ^@ NM_001256850.1(TTN):c.99598C>T (p.Arg33200Cys) http://identifiers.org/clinvar/203033 ^@ NM_001256850.1(TTN):c.92987T>C (p.Ile30996Thr) http://identifiers.org/clinvar/202983 ^@ NM_001256850.1(TTN):c.86510A>T (p.Glu28837Val) http://identifiers.org/clinvar/202933 ^@ NM_001256850.1(TTN):c.81497G>A (p.Arg27166His) http://identifiers.org/clinvar/202883 ^@ NM_001256850.1(TTN):c.73076C>T (p.Thr24359Ile) http://identifiers.org/clinvar/202833 ^@ NM_001256850.1(TTN):c.66403G>A (p.Glu22135Lys) http://identifiers.org/clinvar/231351 ^@ NM_000038.5(APC):c.5114C>G (p.Thr1705Ser) http://identifiers.org/clinvar/229951 ^@ NM_000038.5(APC):c.6413T>G (p.Leu2138Arg) http://identifiers.org/clinvar/230801 ^@ NM_005732.3(RAD50):c.130-1G>T http://identifiers.org/clinvar/230951 ^@ NM_000535.6(PMS2):c.1906G>T (p.Ala636Ser) http://identifiers.org/clinvar/230651 ^@ NM_000535.6(PMS2):c.1354G>C (p.Gly452Arg) http://identifiers.org/clinvar/230001 ^@ NM_004329.2(BMPR1A):c.879G>A (p.Ala293=) http://identifiers.org/clinvar/230851 ^@ NM_000051.3(ATM):c.331+5G>A http://identifiers.org/clinvar/230901 ^@ NM_000051.3(ATM):c.977_978delTA (p.Ile326Argfs) http://identifiers.org/clinvar/229751 ^@ NM_000051.3(ATM):c.1392G>T (p.Leu464Phe) http://identifiers.org/clinvar/230251 ^@ NM_000051.3(ATM):c.1608-3T>C http://identifiers.org/clinvar/230551 ^@ NM_000051.3(ATM):c.2894A>T (p.Asp965Val) http://identifiers.org/clinvar/229801 ^@ NM_000051.3(ATM):c.3982T>C (p.Leu1328=) http://identifiers.org/clinvar/230401 ^@ NM_005591.3(MRE11):c.1180G>C (p.Asp394His) http://identifiers.org/clinvar/229901 ^@ NM_000059.3(BRCA2):c.6014A>G (p.Asp2005Gly) http://identifiers.org/clinvar/230601 ^@ NM_000059.3(BRCA2):c.9783C>T (p.Asp3261=) http://identifiers.org/clinvar/230201 ^@ NM_004360.4(CDH1):c.826C>G (p.Leu276Val) http://identifiers.org/clinvar/230151 ^@ NM_004360.4(CDH1):c.996G>A (p.Gly332=) http://identifiers.org/clinvar/230451 ^@ NM_004360.4(CDH1):c.2293C>T (p.Gln765Ter) http://identifiers.org/clinvar/230351 ^@ NM_001042492.2(NF1):c.4767G>A (p.Thr1589=) http://identifiers.org/clinvar/230301 ^@ NM_001042492.2(NF1):c.4819dupT (p.Tyr1607Leufs) http://identifiers.org/clinvar/230101 ^@ NM_001042492.2(NF1):c.*1A>C http://identifiers.org/clinvar/230701 ^@ NM_007294.3(BRCA1):c.4179C>T (p.Thr1393=) http://identifiers.org/clinvar/231101 ^@ NM_007294.3(BRCA1):c.3636A>T (p.Ser1212=) http://identifiers.org/clinvar/231151 ^@ NM_058216.2(RAD51C):c.257C>T (p.Thr86Ile) http://identifiers.org/clinvar/231251 ^@ NM_058216.2(RAD51C):c.*4A>G http://identifiers.org/clinvar/230751 ^@ NM_032043.2(BRIP1):c.3290A>C (p.Glu1097Ala) http://identifiers.org/clinvar/231301 ^@ NM_007194.3(CHEK2):c.272C>A (p.Ala91Asp) http://identifiers.org/clinvar/235471 ^@ NC_012920.1:m.12432C>T http://identifiers.org/clinvar/235525 ^@ NC_012920.1:m.15437G>A http://identifiers.org/clinvar/235576 ^@ NM_001363.4(DKC1):c.1345C>G (p.Arg449Gly) http://identifiers.org/clinvar/235626 ^@ NC_012920.1:m.8616G>T http://identifiers.org/clinvar/235679 ^@ NC_012920.1:m.8047T>C http://identifiers.org/clinvar/235742 ^@ NM_207361.5(FREM2):c.8885C>T (p.Ala2962Val) http://identifiers.org/clinvar/235814 ^@ NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) http://identifiers.org/clinvar/235888 ^@ NM_006516.2(SLC2A1):c.574_575delAT (p.Ile192Hisfs) http://identifiers.org/clinvar/236050 ^@ NM_198159.2(MITF):c.1190delG (p.Gly397Aspfs) http://identifiers.org/clinvar/236150 ^@ NM_000350.2(ABCA4):c.6713A>G (p.Gln2238Arg) http://identifiers.org/clinvar/236100 ^@ NM_000350.2(ABCA4):c.3292C>T (p.Arg1098Cys) http://identifiers.org/clinvar/236208 ^@ NM_018480.4(TMEM126B):c.401delA (p.Asn134Ilefs) http://identifiers.org/clinvar/236288 ^@ NM_198578.3(LRRK2):c.1288G>A (p.Val430Ile) http://identifiers.org/clinvar/236339 ^@ NC_000016.8:g.77421314_78006279dup584966 http://identifiers.org/clinvar/236389 ^@ NC_000008.10:g.3035992_4784421del1748430 http://identifiers.org/clinvar/236540 ^@ NM_206933.2(USH2A):c.12095G>T (p.Gly4032Val) http://identifiers.org/clinvar/236440 ^@ NM_033100.3(CDHR1):c.270dupC (p.Thr91Hisfs) http://identifiers.org/clinvar/236490 ^@ NM_006915.2(RP2):c.507delT (p.Asn169Lysfs) http://identifiers.org/clinvar/239440 ^@ NM_003000.2(SDHB):c.72+5G>A http://identifiers.org/clinvar/241430 ^@ NM_022114.3(PRDM16):c.3269C>T (p.Thr1090Met) http://identifiers.org/clinvar/241030 ^@ NM_015284.3(SZT2):c.2578G>A (p.Glu860Lys) http://identifiers.org/clinvar/238786 ^@ NM_001267550.2(TTN):c.46697-5A>G http://identifiers.org/clinvar/238736 ^@ NM_001267550.2(TTN):c.29066C>G (p.Thr9689Ser) http://identifiers.org/clinvar/238836 ^@ NM_001267550.2(TTN):c.7229A>C (p.His2410Pro) http://identifiers.org/clinvar/236994 ^@ NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) http://identifiers.org/clinvar/239137 ^@ NM_002354.2(EPCAM):c.658-6A>G http://identifiers.org/clinvar/237396 ^@ NM_000251.2(MSH2):c.361T>A (p.Tyr121Asn) http://identifiers.org/clinvar/240980 ^@ NM_015120.4(ALMS1):c.12117+4C>T http://identifiers.org/clinvar/241730 ^@ NM_033084.4(FANCD2):c.1311G>A (p.Ser437=) http://identifiers.org/clinvar/240680 ^@ NM_006514.3(SCN10A):c.5217C>T (p.Asp1739=) http://identifiers.org/clinvar/238586 ^@ NM_001148.4(ANK2):c.6912T>C (p.Thr2304=) http://identifiers.org/clinvar/239590 ^@ NM_003924.3(PHOX2B):c.738_776del39 (p.Ala248_Ala260del) http://identifiers.org/clinvar/236590 ^@ NM_000038.5(APC):c.3391C>T (p.Gln1131Ter) http://identifiers.org/clinvar/236640 ^@ NM_000038.5(APC):c.7109G>T (p.Gly2370Val) http://identifiers.org/clinvar/242230 ^@ NM_198253.2(TERT):c.2775C>T (p.His925=) http://identifiers.org/clinvar/239087 ^@ NM_001999.3(FBN2):c.6002G>A (p.Cys2001Tyr) http://identifiers.org/clinvar/238986 ^@ NM_001369.2(DNAH5):c.7151A>G (p.Asn2384Ser) http://identifiers.org/clinvar/239640 ^@ NM_004168.3(SDHA):c.1234G>T (p.Gly412Cys) http://identifiers.org/clinvar/238636 ^@ NM_001206927.1(DNAH8):c.13214+10T>C http://identifiers.org/clinvar/238936 ^@ NM_001277115.1(DNAH11):c.864G>A (p.Leu288=) http://identifiers.org/clinvar/238886 ^@ NM_001277115.1(DNAH11):c.10085A>C (p.Lys3362Thr) http://identifiers.org/clinvar/262079 ^@ NM_032446.2(MEGF10):c.616G>A (p.Val206Ile) http://identifiers.org/clinvar/261579 ^@ NM_022455.4(NSD1):c.1236+17G>A http://identifiers.org/clinvar/259189 ^@ NM_003900.4(SQSTM1):c.876C>T (p.Asp292=) http://identifiers.org/clinvar/257050 ^@ NM_001010892.2(RSPH4A):c.1916+46C>G http://identifiers.org/clinvar/256050 ^@ NM_000426.3(LAMA2):c.1206+11C>T http://identifiers.org/clinvar/256300 ^@ NM_000500.7(CYP21A2):c.747C>G (p.Leu249=) http://identifiers.org/clinvar/261179 ^@ NM_019105.6(TNXB):c.9625C>G (p.Arg3209Gly) http://identifiers.org/clinvar/261129 ^@ NM_019105.6(TNXB):c.2367G>A (p.Gly789=) http://identifiers.org/clinvar/259339 ^@ NM_004370.5(COL12A1):c.5665-14A>G http://identifiers.org/clinvar/256250 ^@ NM_000492.3(CFTR):c.1920T>C (p.Phe640=) http://identifiers.org/clinvar/259289 ^@ NM_004333.4(BRAF):c.1993-11dupT http://identifiers.org/clinvar/258539 ^@ NM_002047.3(GARS):c.816A>G (p.Leu272=) http://identifiers.org/clinvar/258989 ^@ NM_003235.4(TG):c.2334T>C (p.Pro778=) http://identifiers.org/clinvar/256850 ^@ NM_001001557.3(GDF6):c.407-40C>G http://identifiers.org/clinvar/255950 ^@ NM_000368.4(TSC1):c.913+8G>C http://identifiers.org/clinvar/262429 ^@ NM_139025.4(ADAMTS13):c.1797C>T (p.Ile599=) http://identifiers.org/clinvar/255061 ^@ NM_000093.4(COL5A1):c.2232+36C>T http://identifiers.org/clinvar/259039 ^@ NM_003289.3(TPM2):c.493-43G>C http://identifiers.org/clinvar/261329 ^@ NM_020549.4(CHAT):c.1281+47G>A http://identifiers.org/clinvar/259740 ^@ NM_005271.4(GLUD1):c.376G>A (p.Asp126Asn) http://identifiers.org/clinvar/260729 ^@ NM_016341.3(PLCE1):c.6324C>G (p.Val2108=) http://identifiers.org/clinvar/259539 ^@ NM_004771.3(MMP20):c.53A>C (p.Lys18Thr) http://identifiers.org/clinvar/259840 ^@ NM_005609.3(PYGM):c.660+35G>A http://identifiers.org/clinvar/259139 ^@ NM_003737.3(DCHS1):c.4215T>C (p.Leu1405=) http://identifiers.org/clinvar/258639 ^@ NM_002335.3(LRP5):c.3858C>T (p.Cys1286=) http://identifiers.org/clinvar/259690 ^@ NM_005247.2(FGF3):c.69G>T (p.Ala23=) http://identifiers.org/clinvar/256600 ^@ NM_000545.6(HNF1A):c.900C>T (p.Pro300=) http://identifiers.org/clinvar/255750 ^@ NM_000289.5(PFKM):c.1342-14G>T http://identifiers.org/clinvar/254711 ^@ NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) http://identifiers.org/clinvar/258589 ^@ NM_002206.2(ITGA7):c.882G>A (p.Val294=) http://identifiers.org/clinvar/256700 ^@ NM_000552.4(VWF):c.7782T>A (p.Thr2594=) http://identifiers.org/clinvar/256650 ^@ NM_000552.4(VWF):c.1173A>T (p.Thr391=) http://identifiers.org/clinvar/261829 ^@ NM_025114.3(CEP290):c.1824+16dupT http://identifiers.org/clinvar/255161 ^@ NM_000123.3(ERCC5):c.2879+14C>T http://identifiers.org/clinvar/254761 ^@ NM_000053.3(ATP7B):c.1912G>A (p.Ala638Thr) http://identifiers.org/clinvar/261629 ^@ NM_022489.3(INF2):c.879G>A (p.Ser293=) http://identifiers.org/clinvar/261229 ^@ NM_020366.3(RPGRIP1):c.3340-15C>T http://identifiers.org/clinvar/258839 ^@ NM_002863.4(PYGL):c.2380-41G>A http://identifiers.org/clinvar/257100 ^@ NM_001024858.2(SPTB):c.1838G>T (p.Ser613Ile) http://identifiers.org/clinvar/256100 ^@ NM_000428.2(LTBP2):c.4905G>C (p.Leu1635=) http://identifiers.org/clinvar/254861 ^@ NM_000070.2(CAPN3):c.1543G>A (p.Gly515Arg) http://identifiers.org/clinvar/262379 ^@ NM_138477.2(CDAN1):c.558C>G (p.Pro186=) http://identifiers.org/clinvar/334976 ^@ NM_000751.2(CHRND):c.*92C>T http://identifiers.org/clinvar/335026 ^@ NM_005199.4(CHRNG):c.*592_*598delCTTTTTT http://identifiers.org/clinvar/335126 ^@ NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile) http://identifiers.org/clinvar/335276 ^@ NM_004321.7(KIF1A):c.1315-4C>A http://identifiers.org/clinvar/336115 ^@ NM_133259.3(LRPPRC):c.*1653G>A http://identifiers.org/clinvar/335476 ^@ NM_000221.2(KHK):c.-379T>A http://identifiers.org/clinvar/334125 ^@ NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) http://identifiers.org/clinvar/334276 ^@ NM_173076.2(ABCA12):c.709A>C (p.Asn237His) http://identifiers.org/clinvar/342462 ^@ NM_000551.3(VHL):c.*2094delT http://identifiers.org/clinvar/334826 ^@ NM_000091.4(COL4A3):c.*2652G>A http://identifiers.org/clinvar/342662 ^@ NM_020754.3(ARHGAP31):c.2778G>A (p.Ala926=) http://identifiers.org/clinvar/334626 ^@ NM_003590.4(CUL3):c.2102A>T (p.His701Leu) http://identifiers.org/clinvar/342712 ^@ NM_020754.3(ARHGAP31):c.*2110G>A http://identifiers.org/clinvar/342762 ^@ NM_000187.3(HGD):c.-255G>T http://identifiers.org/clinvar/334726 ^@ NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) http://identifiers.org/clinvar/334776 ^@ NM_000091.4(COL4A3):c.3882+10G>A http://identifiers.org/clinvar/342962 ^@ NM_000373.3(UMPS):c.*1517C>A http://identifiers.org/clinvar/335176 ^@ NM_004544.3(NDUFA10):c.*1915G>A http://identifiers.org/clinvar/335226 ^@ NM_004321.7(KIF1A):c.*2458G>A http://identifiers.org/clinvar/343112 ^@ NM_032638.4(GATA2):c.*1173G>T http://identifiers.org/clinvar/334876 ^@ NM_025243.3(SLC19A3):c.*33A>G http://identifiers.org/clinvar/335326 ^@ NM_152783.4(D2HGDH):c.*26C>T http://identifiers.org/clinvar/335426 ^@ NM_194248.2(OTOF):c.*372C>T http://identifiers.org/clinvar/342512 ^@ NM_000551.3(VHL):c.*3644_*3645insG http://identifiers.org/clinvar/335376 ^@ NM_000182.4(HADHA):c.1829G>A (p.Arg610Gln) http://identifiers.org/clinvar/342912 ^@ NM_053025.3(MYLK):c.-130A>C http://identifiers.org/clinvar/343062 ^@ NM_025265.3(TSEN2):c.-199G>T http://identifiers.org/clinvar/343162 ^@ NM_004637.5(RAB7A):c.*163T>G http://identifiers.org/clinvar/354578 ^@ NM_002397.4(MEF2C):c.*1816delA http://identifiers.org/clinvar/354628 ^@ NM_000439.4(PCSK1):c.*837G>A http://identifiers.org/clinvar/351191 ^@ NM_001369.2(DNAH5):c.3643G>C (p.Val1215Leu) http://identifiers.org/clinvar/350991 ^@ NM_017415.2(KLHL3):c.838C>T (p.Leu280=) http://identifiers.org/clinvar/351141 ^@ NM_199189.2(MATR3):c.2494-14C>A http://identifiers.org/clinvar/358307 ^@ NM_000602.4(SERPINE1):c.49G>A (p.Val17Ile) http://identifiers.org/clinvar/358357 ^@ NM_198999.2(SLC26A5):c.465T>C (p.Asp155=) http://identifiers.org/clinvar/358407 ^@ NM_005045.3(RELN):c.3424T>A (p.Ser1142Thr) http://identifiers.org/clinvar/351441 ^@ NM_054027.4(ANKH):c.*2714T>C http://identifiers.org/clinvar/351491 ^@ NM_054027.4(ANKH):c.*416_*419dupTCAA http://identifiers.org/clinvar/351341 ^@ NM_001018077.1(NR3C1):c.*1241C>T http://identifiers.org/clinvar/351641 ^@ NM_024577.3(SH3TC2):c.*16169G>A http://identifiers.org/clinvar/355718 ^@ NM_203395.2(IYD):c.*1673T>C http://identifiers.org/clinvar/355768 ^@ NM_203395.2(IYD):c.*4849C>T http://identifiers.org/clinvar/351741 ^@ NM_024577.3(SH3TC2):c.*9340G>C http://identifiers.org/clinvar/359107 ^@ NM_000083.2(CLCN1):c.1205C>T (p.Ala402Val) http://identifiers.org/clinvar/356018 ^@ NM_004562.2(PRKN):c.706A>G (p.Ile236Val) http://identifiers.org/clinvar/359207 ^@ NM_014141.5(CNTNAP2):c.*828T>C http://identifiers.org/clinvar/351791 ^@ NM_024577.3(SH3TC2):c.*6350G>A http://identifiers.org/clinvar/351841 ^@ NM_024577.3(SH3TC2):c.*3136G>A http://identifiers.org/clinvar/351941 ^@ NM_000440.2(PDE6A):c.*2637_*2641delTTATG http://identifiers.org/clinvar/356368 ^@ NM_148919.3(PSMB8):c.145C>A (p.Gln49Lys) http://identifiers.org/clinvar/356418 ^@ NM_001014.4(RPS10):c.*25G>T http://identifiers.org/clinvar/356618 ^@ NM_005943.5(MOCS1):c.*1755C>T http://identifiers.org/clinvar/352339 ^@ NM_000337.5(SGCD):c.*158G>A http://identifiers.org/clinvar/356668 ^@ NM_005943.5(MOCS1):c.330C>T (p.Leu110=) http://identifiers.org/clinvar/356968 ^@ NM_006502.2(POLH):c.*2659T>C http://identifiers.org/clinvar/353278 ^@ NM_002185.3(IL7R):c.*663T>A http://identifiers.org/clinvar/353378 ^@ NM_133433.3(NIPBL):c.3487C>T (p.Pro1163Ser) http://identifiers.org/clinvar/353528 ^@ NM_002310.5(LIFR):c.*5796A>C http://identifiers.org/clinvar/353578 ^@ NM_002310.5(LIFR):c.*1855A>T http://identifiers.org/clinvar/353328 ^@ NM_004172.4(SLC1A3):c.*133A>G http://identifiers.org/clinvar/353628 ^@ NM_002310.5(LIFR):c.992-8dupT http://identifiers.org/clinvar/353678 ^@ NM_000163.4(GHR):c.182G>A (p.Arg61Gln) http://identifiers.org/clinvar/353778 ^@ NM_002203.3(ITGA2):c.3154A>T (p.Thr1052Ser) http://identifiers.org/clinvar/363805 ^@ NM_000318.2(PEX2):c.*627G>T http://identifiers.org/clinvar/363855 ^@ NM_019098.4(CNGB3):c.*778T>C http://identifiers.org/clinvar/306301 ^@ NM_020376.3(PNPLA2):c.826G>C (p.Asp276His) http://identifiers.org/clinvar/364005 ^@ NM_001001557.3(GDF6):c.*2216C>T http://identifiers.org/clinvar/363905 ^@ NM_002485.4(NBN):c.*541G>C http://identifiers.org/clinvar/306552 ^@ NM_030962.3(SBF2):c.*1515G>A http://identifiers.org/clinvar/306602 ^@ NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) http://identifiers.org/clinvar/306802 ^@ NM_024312.4(GNPTAB):c.2904A>C (p.Glu968Asp) http://identifiers.org/clinvar/364355 ^@ NM_005502.3(ABCA1):c.*1291delT http://identifiers.org/clinvar/306952 ^@ NM_018082.5(POLR3B):c.3334C>G (p.Leu1112Val) http://identifiers.org/clinvar/364405 ^@ NM_005502.3(ABCA1):c.4161G>A (p.Gln1387=) http://identifiers.org/clinvar/364555 ^@ NM_003640.4(IKBKAP):c.3590G>A (p.Arg1197His) http://identifiers.org/clinvar/364505 ^@ NM_001079802.1(FKTN):c.*2433G>A http://identifiers.org/clinvar/364755 ^@ NM_018249.5(CDK5RAP2):c.4211C>A (p.Thr1404Asn) http://identifiers.org/clinvar/364605 ^@ NM_005592.3(MUSK):c.1099C>T (p.Arg367Trp) http://identifiers.org/clinvar/364905 ^@ NM_002316.3(LMX1B):c.*451C>T http://identifiers.org/clinvar/307741 ^@ NM_000834.3(GRIN2B):c.3703G>A (p.Gly1235Ser) http://identifiers.org/clinvar/307791 ^@ NM_172364.4(CACNA2D4):c.*1632G>A http://identifiers.org/clinvar/364655 ^@ NM_000031.5(ALAD):c.16G>A (p.Val6Ile) http://identifiers.org/clinvar/364705 ^@ NM_015404.3(WHRN):c.-483G>A http://identifiers.org/clinvar/364855 ^@ NM_000550.2(TYRP1):c.917C>G (p.Thr306Ser) http://identifiers.org/clinvar/364805 ^@ NM_000177.4(GSN):c.876G>A (p.Ala292=) http://identifiers.org/clinvar/308091 ^@ NM_004985.4(KRAS):c.*2239A>G http://identifiers.org/clinvar/308291 ^@ NM_139241.3(FGD4):c.993+4A>T http://identifiers.org/clinvar/365005 ^@ NM_138361.5(LRSAM1):c.-338G>A http://identifiers.org/clinvar/308691 ^@ NM_153026.2(PRICKLE1):c.*594_*595delAA http://identifiers.org/clinvar/308791 ^@ NM_020638.2(FGF23):c.*368_*373delAAAAAG http://identifiers.org/clinvar/308941 ^@ NM_001844.4(COL2A1):c.-119C>T http://identifiers.org/clinvar/365945 ^@ NM_016219.4(MAN1B1):c.347A>G (p.Glu116Gly) http://identifiers.org/clinvar/365794 ^@ NM_000093.4(COL5A1):c.*2485G>A http://identifiers.org/clinvar/365844 ^@ NM_052813.4(CARD9):c.809A>T (p.Glu270Val) http://identifiers.org/clinvar/365895 ^@ NM_019892.5(INPP5E):c.-174G>A http://identifiers.org/clinvar/302297 ^@ NM_000051.3(ATM):c.*3325A>G http://identifiers.org/clinvar/366395 ^@ NM_000459.4(TEK):c.443T>C (p.Ile148Thr) http://identifiers.org/clinvar/365995 ^@ NM_024757.4(EHMT1):c.405G>T (p.Gln135His) http://identifiers.org/clinvar/366445 ^@ NM_000459.4(TEK):c.2838C>T (p.Ala946=) http://identifiers.org/clinvar/366145 ^@ NM_144966.5(FREM1):c.2420C>G (p.Thr807Ser) http://identifiers.org/clinvar/366545 ^@ NM_203447.3(DOCK8):c.626G>A (p.Arg209Gln) http://identifiers.org/clinvar/302597 ^@ NM_174934.3(SCN4B):c.*2496C>T http://identifiers.org/clinvar/366645 ^@ NM_001497.3(B4GALT1):c.*316G>A http://identifiers.org/clinvar/310835 ^@ NM_018979.3(WNK1):c.5397A>G (p.Gln1799=) http://identifiers.org/clinvar/302847 ^@ NM_005188.3(CBL):c.*4140G>A http://identifiers.org/clinvar/366945 ^@ NM_001042413.1(GLIS3):c.*711C>G http://identifiers.org/clinvar/310935 ^@ NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) http://identifiers.org/clinvar/366595 ^@ NM_175073.2(APTX):c.183A>G (p.Val61=) http://identifiers.org/clinvar/310985 ^@ NM_002312.3(LIG4):c.1198A>C (p.Ile400Leu) http://identifiers.org/clinvar/311035 ^@ NM_001845.5(COL4A1):c.3742+14G>A http://identifiers.org/clinvar/321959 ^@ NM_017775.3(TTC19):c.*670dupT http://identifiers.org/clinvar/321909 ^@ NM_006445.3(PRPF8):c.1401A>G (p.Gln467=) http://identifiers.org/clinvar/340522 ^@ NM_006031.5(PCNT):c.6790G>A (p.Ala2264Thr) http://identifiers.org/clinvar/314434 ^@ NM_017791.2(FLVCR2):c.*1588A>C http://identifiers.org/clinvar/340623 ^@ NM_014339.6(IL17RA):c.*414A>G http://identifiers.org/clinvar/322109 ^@ NM_016239.3(MYO15A):c.484C>T (p.Arg162Cys) http://identifiers.org/clinvar/322159 ^@ NM_016239.3(MYO15A):c.7396-8C>G http://identifiers.org/clinvar/340773 ^@ NM_017929.5(PEX26):c.*912C>T http://identifiers.org/clinvar/341073 ^@ NM_000268.3(NF2):c.1439C>T (p.Thr480Met) http://identifiers.org/clinvar/314834 ^@ NM_018319.3(TDP1):c.1107T>C (p.Asn369=) http://identifiers.org/clinvar/341223 ^@ NM_000355.3(TCN2):c.*313dupA http://identifiers.org/clinvar/341673 ^@ NM_022098.3(XPNPEP3):c.1085A>C (p.Glu362Ala) http://identifiers.org/clinvar/313884 ^@ NM_015346.3(ZFYVE26):c.6011+7G>A http://identifiers.org/clinvar/313934 ^@ NM_015346.3(ZFYVE26):c.35C>T (p.Ser12Leu) http://identifiers.org/clinvar/367824 ^@ NM_001167.3(XIAP):c.*3611C>T http://identifiers.org/clinvar/314034 ^@ NM_031427.3(DNAL1):c.*1063A>G http://identifiers.org/clinvar/316523 ^@ NM_182758.3(WDR72):c.*2607_*2612dupGTGTGT http://identifiers.org/clinvar/368613 ^@ NM_013444.3(UBQLN2):c.*1170dupC http://identifiers.org/clinvar/316723 ^@ NM_016630.6(SPG21):c.104A>G (p.Tyr35Cys) http://identifiers.org/clinvar/314734 ^@ NM_000153.3(GALC):c.*989G>A http://identifiers.org/clinvar/316773 ^@ NM_001101362.2(KBTBD13):c.*1499T>C http://identifiers.org/clinvar/314784 ^@ NM_018418.4(SPATA7):c.913-14T>A http://identifiers.org/clinvar/314884 ^@ NM_006329.3(FBLN5):c.-139C>T http://identifiers.org/clinvar/317123 ^@ NM_000781.2(CYP11A1):c.1201G>A (p.Asp401Asn) http://identifiers.org/clinvar/317574 ^@ NM_000875.4(IGF1R):c.*4231G>A http://identifiers.org/clinvar/325417 ^@ NM_024599.5(RHBDF2):c.*160G>A http://identifiers.org/clinvar/317674 ^@ NM_000246.3(CIITA):c.133C>G (p.Leu45Val) http://identifiers.org/clinvar/315923 ^@ NM_138477.2(CDAN1):c.3142G>A (p.Val1048Ile) http://identifiers.org/clinvar/325768 ^@ NM_000152.4(GAA):c.-312C>T http://identifiers.org/clinvar/316373 ^@ NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg) http://identifiers.org/clinvar/371818 ^@ NM_000038.5(APC):c.6965A>G (p.Gln2322Arg) http://identifiers.org/clinvar/374429 ^@ NM_020661.3(AICDA):c.92A>G (p.Tyr31Cys) http://identifiers.org/clinvar/375215 ^@ NM_000248.3(MITF):c.618G>C (p.Lys206Asn) http://identifiers.org/clinvar/375276 ^@ NM_001321463.1(NCLN):c.496C>T (p.Gln166Ter) http://identifiers.org/clinvar/375330 ^@ NM_020247.4(COQ8A):c.1844G>A (p.Gly615Asp) http://identifiers.org/clinvar/375381 ^@ NM_182924.3(MICALL2):c.851C>G (p.Pro284Arg) http://identifiers.org/clinvar/375436 ^@ NM_153427.2(PITX2):c.184_205del22 (p.Arg62Alafs) http://identifiers.org/clinvar/375505 ^@ NM_021007.2(SCN2A):c.3967A>G (p.Met1323Val) http://identifiers.org/clinvar/375562 ^@ NM_173494.1(PIH1D3):c.357_363delGGTGGGA (p.Val120Leufs) http://identifiers.org/clinvar/375622 ^@ NM_033517.1(SHANK3):c.1030G>T (p.Val344Leu) http://identifiers.org/clinvar/375767 ^@ NM_015295.2(SMCHD1):c.404G>A (p.Ser135Asn) http://identifiers.org/clinvar/375817 ^@ NM_000527.4(LDLR):c.1529delC (p.Thr510Serfs) http://identifiers.org/clinvar/375868 ^@ NM_007075.3(WDR45):c.55+2_55+3del http://identifiers.org/clinvar/375920 ^@ NC_000004.11:g.55593664_55593664delCTTATGATC http://identifiers.org/clinvar/391952 ^@ NM_015120.4(ALMS1):c.762T>A (p.Pro254=) http://identifiers.org/clinvar/391213 ^@ NM_014929.3(FASTKD2):c.777+14G>A http://identifiers.org/clinvar/393252 ^@ NM_015120.4(ALMS1):c.5830C>T (p.Arg1944Cys) http://identifiers.org/clinvar/378737 ^@ NM_003280.2(TNNC1):c.207C>T (p.Ser69=) http://identifiers.org/clinvar/391313 ^@ NM_182896.2(ARL13B):c.130+7T>C http://identifiers.org/clinvar/381130 ^@ NM_000179.2(MSH6):c.2700T>C (p.Gly900=) http://identifiers.org/clinvar/384374 ^@ NM_005051.2(QARS):c.1047C>T (p.Leu349=) http://identifiers.org/clinvar/386264 ^@ NM_005051.2(QARS):c.9T>C (p.Ala3=) http://identifiers.org/clinvar/379037 ^@ NM_001148.4(ANK2):c.10707C>A (p.Ile3569=) http://identifiers.org/clinvar/384875 ^@ NM_032446.2(MEGF10):c.116+12G>C http://identifiers.org/clinvar/384575 ^@ NM_003060.3(SLC22A5):c.1451-16G>A http://identifiers.org/clinvar/380829 ^@ NM_001098511.2(KIF2A):c.65-20T>C http://identifiers.org/clinvar/384775 ^@ NM_001130105.1(COL4A3BP):c.554C>A (p.Ser185Tyr) http://identifiers.org/clinvar/391263 ^@ NM_001999.3(FBN2):c.5918-5T>A http://identifiers.org/clinvar/386164 ^@ NM_021911.2(GABRB2):c.832+9T>C http://identifiers.org/clinvar/383172 ^@ NM_021911.2(GABRB2):c.1014A>G (p.Gln338=) http://identifiers.org/clinvar/381330 ^@ NM_198056.2(SCN5A):c.3159G>A (p.Glu1053=) http://identifiers.org/clinvar/392852 ^@ NM_002290.4(LAMA4):c.1695A>G (p.Leu565=) http://identifiers.org/clinvar/387464 ^@ NM_032340.3(UQCC2):c.*16C>T http://identifiers.org/clinvar/381430 ^@ NM_018368.3(LMBRD1):c.1509+20G>C http://identifiers.org/clinvar/391113 ^@ NM_033071.3(SYNE1):c.1284G>A (p.Ala428=) http://identifiers.org/clinvar/385425 ^@ NM_006348.3(COG5):c.1395G>A (p.Lys465=) http://identifiers.org/clinvar/380177 ^@ NM_001167734.1(VARS2):c.2502C>T (p.Leu834=) http://identifiers.org/clinvar/387564 ^@ NM_001458.4(FLNC):c.352+10G>A http://identifiers.org/clinvar/384625 ^@ NM_024582.4(FAT4):c.4154T>C (p.Leu1385Ser) http://identifiers.org/clinvar/391163 ^@ NM_004456.4(EZH2):c.2029+17G>A http://identifiers.org/clinvar/384474 ^@ NM_001080522.2(CC2D2A):c.3744G>T (p.Leu1248=) http://identifiers.org/clinvar/392552 ^@ NM_080680.2(COL11A2):c.1260C>T (p.Gly420=) http://identifiers.org/clinvar/380478 ^@ NM_001101.3(ACTB):c.-50G>T http://identifiers.org/clinvar/378383 ^@ NM_000535.6(PMS2):c.705+12C>T http://identifiers.org/clinvar/380980 ^@ NM_014141.5(CNTNAP2):c.2985A>G (p.Ala995=) http://identifiers.org/clinvar/380678 ^@ NM_001079802.1(FKTN):c.102A>C (p.Thr34=) http://identifiers.org/clinvar/385375 ^@ NM_001204824.1(KCNQ3):c.2202G>A (p.Ser734=) http://identifiers.org/clinvar/392802 ^@ NM_000168.5(GLI3):c.1969G>A (p.Gly657Ser) http://identifiers.org/clinvar/378685 ^@ NM_003165.3(STXBP1):c.156C>T (p.Thr52=) http://identifiers.org/clinvar/385475 ^@ NM_001130438.2(SPTAN1):c.3599A>G (p.His1200Arg) http://identifiers.org/clinvar/378887 ^@ NM_002890.2(RASA1):c.1777-16A>T http://identifiers.org/clinvar/378229 ^@ NM_002485.4(NBN):c.-37G>A http://identifiers.org/clinvar/383022 ^@ NM_015214.2(DDHD2):c.912T>A (p.Ile304=) http://identifiers.org/clinvar/392752 ^@ NM_017617.4(NOTCH1):c.2083G>T (p.Asp695Tyr) http://identifiers.org/clinvar/379337 ^@ NM_017780.3(CHD7):c.1281T>A (p.Tyr427Ter) http://identifiers.org/clinvar/379387 ^@ NM_024790.6(CSPP1):c.2377-17C>T http://identifiers.org/clinvar/379287 ^@ NM_000136.2(FANCC):c.1330-4C>G http://identifiers.org/clinvar/383423 ^@ NM_000136.2(FANCC):c.-77T>C http://identifiers.org/clinvar/391413 ^@ NM_004408.3(DNM1):c.117C>T (p.Gly39=) http://identifiers.org/clinvar/387214 ^@ NM_004408.3(DNM1):c.850-17C>G http://identifiers.org/clinvar/384925 ^@ NM_020822.2(KCNT1):c.1770-16C>T http://identifiers.org/clinvar/388014 ^@ NM_006059.3(LAMC3):c.4446C>T (p.Ile1482=) http://identifiers.org/clinvar/134617 ^@ NM_002253.2(KDR):c.1055C>T (p.Ala352Val) http://identifiers.org/clinvar/134669 ^@ NM_003482.3(KMT2D):c.2656C>G (p.Pro886Ala) http://identifiers.org/clinvar/134720 ^@ NM_003482.3(KMT2D):c.13081G>A (p.Ala4361Thr) http://identifiers.org/clinvar/134770 ^@ NM_170606.2(KMT2C):c.8449A>G (p.Thr2817Ala) http://identifiers.org/clinvar/134820 ^@ NM_005373.2(MPL):c.1745T>C (p.Leu582Pro) http://identifiers.org/clinvar/134874 ^@ NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) http://identifiers.org/clinvar/134924 ^@ NM_017617.4(NOTCH1):c.3192C>G (p.Asp1064Glu) http://identifiers.org/clinvar/134974 ^@ NM_024408.3(NOTCH2):c.4114C>T (p.Arg1372Trp) http://identifiers.org/clinvar/135024 ^@ NM_006206.4(PDGFRA):c.167G>C (p.Ser56Thr) http://identifiers.org/clinvar/135075 ^@ NM_001198.3(PRDM1):c.502C>G (p.Pro168Ala) http://identifiers.org/clinvar/135126 ^@ NM_004260.3(RECQL4):c.1625C>T (p.Ser542Phe) http://identifiers.org/clinvar/135177 ^@ NM_020975.4(RET):c.2261C>T (p.Thr754Met) http://identifiers.org/clinvar/184649 ^@ NM_007294.3(BRCA1):c.969A>T (p.Gly323=) http://identifiers.org/clinvar/183999 ^@ NM_000455.4(STK11):c.1249G>A (p.Ala417Thr) http://identifiers.org/clinvar/187811 ^@ NM_016069.9(PAM16):c.226A>G (p.Asn76Asp) http://identifiers.org/clinvar/187883 ^@ NM_005957.4(MTHFR):c.767T>A (p.Ile256Asn) http://identifiers.org/clinvar/187933 ^@ NM_004409.4(DMPK):c.*224_*226[182] http://identifiers.org/clinvar/187983 ^@ NM_004409.4(DMPK):c.*224_*226[440] http://identifiers.org/clinvar/188033 ^@ NM_004409.4(DMPK):c.*224_*226[816] http://identifiers.org/clinvar/188083 ^@ NM_014946.3(SPAST):c.1637G>A (p.Gly546Glu) http://identifiers.org/clinvar/188290 ^@ NM_001166110.1(PALLD):c.841G>T (p.Asp281Tyr) http://identifiers.org/clinvar/188237 ^@ NM_017780.3(CHD7):c.7179C>A (p.Asn2393Lys) http://identifiers.org/clinvar/188134 ^@ NM_001080463.1(DYNC2H1):c.2860G>A (p.Glu954Lys) http://identifiers.org/clinvar/188185 ^@ NM_024675.3(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656Glnfs) http://identifiers.org/clinvar/188343 ^@ NM_024675.3(PALB2):c.1487A>G (p.Asp496Gly) http://identifiers.org/clinvar/188400 ^@ NM_001165927.1(MKS1):c.1378-34_1378-6del29 http://identifiers.org/clinvar/188553 ^@ NM_000256.3(MYBPC3):c.1547_1549delAGG (p.Glu516del) http://identifiers.org/clinvar/188653 ^@ NM_004572.3(PKP2):c.253_256delGAGT (p.Glu85Metfs) http://identifiers.org/clinvar/188603 ^@ NM_000257.3(MYH7):c.895+17G>A http://identifiers.org/clinvar/188703 ^@ NM_001018005.1(TPM1):c.639+21G>C http://identifiers.org/clinvar/188453 ^@ NM_001943.4(DSG2):c.1643G>A (p.Arg548His) http://identifiers.org/clinvar/188503 ^@ NM_004992.3(MECP2):c.1224G>C (p.Leu408Phe) http://identifiers.org/clinvar/188753 ^@ NM_000098.2(CPT2):c.1369A>T (p.Lys457Ter) http://identifiers.org/clinvar/188853 ^@ NM_000543.4(SMPD1):c.1111_1112delCT (p.Leu371Phefs) http://identifiers.org/clinvar/189055 ^@ NM_000053.3(ATP7B):c.3556+1G>A http://identifiers.org/clinvar/188954 ^@ NM_000520.5(HEXA):c.1528C>T (p.Arg510Ter) http://identifiers.org/clinvar/189005 ^@ NM_000049.2(ASPA):c.244_245delAT (p.Met82Valfs) http://identifiers.org/clinvar/188803 ^@ NM_000049.2(ASPA):c.859G>A (p.Ala287Thr) http://identifiers.org/clinvar/188904 ^@ NM_000152.4(GAA):c.2140delC (p.His714Thrfs) http://identifiers.org/clinvar/189918 ^@ NM_001165963.1(SCN1A):c.4611_4645dup35 (p.Ile1549Thrfs) http://identifiers.org/clinvar/189968 ^@ NM_001165963.1(SCN1A):c.3899C>G (p.Thr1300Arg) http://identifiers.org/clinvar/189868 ^@ NM_001165963.1(SCN1A):c.1659dupC (p.Gln554Profs) http://identifiers.org/clinvar/190018 ^@ NM_001165963.1(SCN1A):c.1046A>G (p.Tyr349Cys) http://identifiers.org/clinvar/190153 ^@ NM_000124.3(ERCC6):c.1821+7C>T http://identifiers.org/clinvar/190203 ^@ NM_001110556.1(FLNA):c.6580G>T (p.Glu2194Ter) http://identifiers.org/clinvar/190259 ^@ NM_005264.5(GFRA1):c.779T>C (p.Leu260Pro) http://identifiers.org/clinvar/227559 ^@ NM_001018116.2(CAVIN4):c.702_722del21 (p.Leu248_Arg254del) http://identifiers.org/clinvar/228560 ^@ NM_015404.3(WHRN):c.1547C>T (p.Thr516Ile) http://identifiers.org/clinvar/228610 ^@ NM_012144.3(DNAI1):c.47A>G (p.Gln16Arg) http://identifiers.org/clinvar/227329 ^@ NM_203447.3(DOCK8):c.3543A>G (p.Val1181=) http://identifiers.org/clinvar/228010 ^@ NM_004817.3(TJP2):c.3190G>T (p.Val1064Leu) http://identifiers.org/clinvar/227228 ^@ NM_022124.5(CDH23):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/229599 ^@ NM_153676.3(USH1C):c.2302C>A (p.Leu768Met) http://identifiers.org/clinvar/226877 ^@ NM_001277269.1(OTOG):c.3003G>A (p.Pro1001=) http://identifiers.org/clinvar/228760 ^@ NM_000218.2(KCNQ1):c.1196C>G (p.Ala399Gly) http://identifiers.org/clinvar/227659 ^@ NM_005379.3(MYO1A):c.3128A>G (p.Gln1043Arg) http://identifiers.org/clinvar/226977 ^@ NM_173591.3(OTOGL):c.890C>T (p.Pro297Leu) http://identifiers.org/clinvar/227809 ^@ NM_173591.3(OTOGL):c.1050C>T (p.Cys350=) http://identifiers.org/clinvar/226927 ^@ NM_173591.3(OTOGL):c.1132+14T>C http://identifiers.org/clinvar/226777 ^@ NM_016239.3(MYO15A):c.1385G>A (p.Gly462Asp) http://identifiers.org/clinvar/226827 ^@ NM_003803.3(MYOM1):c.4718G>A (p.Arg1573Gln) http://identifiers.org/clinvar/242404 ^@ NM_003803.3(MYOM1):c.64_66delGTGinsCTC (p.Val22Leu) http://identifiers.org/clinvar/227529 ^@ NM_144612.6(LOXHD1):c.5398C>T (p.Arg1800Trp) http://identifiers.org/clinvar/227379 ^@ NM_133261.2(GIPC3):c.213C>A (p.Ile71=) http://identifiers.org/clinvar/228510 ^@ NM_001039213.3(CEACAM16):c.626T>A (p.Val209Asp) http://identifiers.org/clinvar/228660 ^@ NM_207034.2(EDN3):c.554C>T (p.Thr185Met) http://identifiers.org/clinvar/227609 ^@ NM_002473.5(MYH9):c.3697G>A (p.Val1233Met) http://identifiers.org/clinvar/227128 ^@ NM_001039141.2(TRIOBP):c.6806A>G (p.Asn2269Ser) http://identifiers.org/clinvar/227960 ^@ NM_006941.3(SOX10):c.822C>T (p.Gly274=) http://identifiers.org/clinvar/227078 ^@ NM_006941.3(SOX10):c.18C>T (p.Asp6=) http://identifiers.org/clinvar/227279 ^@ NM_001161529.1(CSF2RA):c.279A>G (p.Thr93=) http://identifiers.org/clinvar/227479 ^@ NM_002290.4(LAMA4):c.3876A>G (p.Lys1292=) http://identifiers.org/clinvar/234638 ^@ NM_002977.3(SCN9A):c.1280T>C (p.Leu427Ser) http://identifiers.org/clinvar/234688 ^@ NM_000535.6(PMS2):c.2069A>G (p.Lys690Arg) http://identifiers.org/clinvar/234537 ^@ NM_002485.4(NBN):c.572C>T (p.Pro191Leu) http://identifiers.org/clinvar/234486 ^@ NM_000314.6(PTEN):c.-850C>T http://identifiers.org/clinvar/234315 ^@ NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) http://identifiers.org/clinvar/234366 ^@ NM_000243.2(MEFV):c.2146A>G (p.Lys716Glu) http://identifiers.org/clinvar/234436 ^@ NM_000243.2(MEFV):c.796A>G (p.Lys266Glu) http://identifiers.org/clinvar/234588 ^@ NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) http://identifiers.org/clinvar/231201 ^@ NM_000179.2(MSH6):c.135C>A (p.Gly45=) http://identifiers.org/clinvar/230501 ^@ NM_000179.2(MSH6):c.696G>A (p.Gln232=) http://identifiers.org/clinvar/230051 ^@ NM_000179.2(MSH6):c.3069A>G (p.Glu1023=) http://identifiers.org/clinvar/229701 ^@ NM_000179.2(MSH6):c.4014G>C (p.Leu1338=) http://identifiers.org/clinvar/264076 ^@ NM_000138.4(FBN1):c.841_842insT (p.Glu281Valfs) http://identifiers.org/clinvar/263826 ^@ NM_002474.2(MYH11):c.4920G>A (p.Arg1640=) http://identifiers.org/clinvar/263876 ^@ NM_002474.2(MYH11):c.4372G>A (p.Ala1458Thr) http://identifiers.org/clinvar/264226 ^@ NM_001456.3(FLNA):c.7377C>T (p.Asp2459=) http://identifiers.org/clinvar/264026 ^@ NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) http://identifiers.org/clinvar/266644 ^@ NM_000059.3(BRCA2):c.1560_1561delTT (p.Ser521Argfs) http://identifiers.org/clinvar/266694 ^@ NM_000059.3(BRCA2):c.2278_2279delTT (p.Leu760Ilefs) http://identifiers.org/clinvar/266744 ^@ NM_000059.3(BRCA2):c.3283delC (p.Gln1095Argfs) http://identifiers.org/clinvar/266794 ^@ NM_000059.3(BRCA2):c.4169dupT (p.Leu1390Phefs) http://identifiers.org/clinvar/266844 ^@ NM_000059.3(BRCA2):c.5049_5050delGA (p.Gln1683Hisfs) http://identifiers.org/clinvar/266894 ^@ NM_000059.3(BRCA2):c.5750C>A (p.Ser1917Ter) http://identifiers.org/clinvar/266944 ^@ NM_000059.3(BRCA2):c.6396dupA (p.Ser2133Ilefs) http://identifiers.org/clinvar/266994 ^@ NM_000059.3(BRCA2):c.7220_7223dupTTCC (p.Pro2409Serfs) http://identifiers.org/clinvar/267044 ^@ NM_000059.3(BRCA2):c.7947dupA (p.Glu2650Argfs) http://identifiers.org/clinvar/267094 ^@ NM_000059.3(BRCA2):c.8517C>A (p.Tyr2839Ter) http://identifiers.org/clinvar/267144 ^@ NM_000059.3(BRCA2):c.9182T>G (p.Leu3061Ter) http://identifiers.org/clinvar/266544 ^@ NM_007294.3(BRCA1):c.5301T>A (p.Cys1767Ter) http://identifiers.org/clinvar/266494 ^@ NM_007294.3(BRCA1):c.4758_4759insA (p.Ser1587Ilefs) http://identifiers.org/clinvar/266444 ^@ NM_007294.3(BRCA1):c.4107_4108insATCT (p.Ser1370Ilefs) http://identifiers.org/clinvar/266394 ^@ NM_007294.3(BRCA1):c.3625_3626insA (p.Leu1209Tyrfs) http://identifiers.org/clinvar/266594 ^@ NM_007294.3(BRCA1):c.944_1007del64 (p.Arg315Lysfs) http://identifiers.org/clinvar/267208 ^@ NM_001655.4(ARCN1):c.157_158delAG (p.Ser53Cysfs) http://identifiers.org/clinvar/268208 ^@ NM_032504.1(UNC80):c.6607G>A (p.Asp2203Asn) http://identifiers.org/clinvar/291781 ^@ NM_006610.3(MASP2):c.1479C>T (p.Ser493=) http://identifiers.org/clinvar/291931 ^@ NM_000036.2(AMPD1):c.780T>C (p.Asp260=) http://identifiers.org/clinvar/292081 ^@ NM_138959.2(VANGL1):c.*5022T>G http://identifiers.org/clinvar/292131 ^@ NM_001232.3(CASQ2):c.846C>T (p.Tyr282=) http://identifiers.org/clinvar/291981 ^@ NM_002524.4(NRAS):c.-209A>G http://identifiers.org/clinvar/291881 ^@ NM_013319.2(UBIAD1):c.*619A>G http://identifiers.org/clinvar/292331 ^@ NM_005518.3(HMGCS2):c.1236T>C (p.Tyr412=) http://identifiers.org/clinvar/292381 ^@ NM_014874.3(MFN2):c.*58A>G http://identifiers.org/clinvar/292431 ^@ NM_213653.3(HFE2):c.986G>C (p.Arg329Pro) http://identifiers.org/clinvar/291831 ^@ NM_003051.3(SLC16A1):c.*1414C>T http://identifiers.org/clinvar/292481 ^@ NM_005850.4(SF3B4):c.519C>T (p.Thr173=) http://identifiers.org/clinvar/292031 ^@ NM_138959.2(VANGL1):c.*932dupT http://identifiers.org/clinvar/292631 ^@ NM_152263.3(TPM3):c.*5575_*5576delGA http://identifiers.org/clinvar/292181 ^@ NM_005957.4(MTHFR):c.*2978G>A http://identifiers.org/clinvar/292931 ^@ NM_003126.2(SPTA1):c.*129_*132delTGTG http://identifiers.org/clinvar/292231 ^@ NM_005957.4(MTHFR):c.1861C>G (p.Leu621Val) http://identifiers.org/clinvar/292681 ^@ NM_152263.3(TPM3):c.*1093T>C http://identifiers.org/clinvar/293031 ^@ NM_003126.2(SPTA1):c.1698C>T (p.Ala566=) http://identifiers.org/clinvar/292281 ^@ NM_000302.3(PLOD1):c.302+15G>A http://identifiers.org/clinvar/292881 ^@ NM_001012331.1(NTRK1):c.641G>A (p.Arg214Gln) http://identifiers.org/clinvar/292981 ^@ NM_003126.2(SPTA1):c.4694T>A (p.Leu1565Gln) http://identifiers.org/clinvar/292531 ^@ NM_019032.5(ADAMTSL4):c.1159C>G (p.Arg387Gly) http://identifiers.org/clinvar/293131 ^@ NM_000702.3(ATP1A2):c.754G>A (p.Ala252Thr) http://identifiers.org/clinvar/292581 ^@ NM_000396.3(CTSK):c.812G>A (p.Ser271Asn) http://identifiers.org/clinvar/293181 ^@ NM_000702.3(ATP1A2):c.*1643_*1646delTCTA http://identifiers.org/clinvar/292731 ^@ NM_001111.4(ADAR):c.*938A>C http://identifiers.org/clinvar/292831 ^@ NM_005572.3(LMNA):c.-88G>T http://identifiers.org/clinvar/292781 ^@ NM_001111.4(ADAR):c.1003A>T (p.Ile335Phe) http://identifiers.org/clinvar/293081 ^@ NM_002241.4(KCNJ10):c.*2649G>A http://identifiers.org/clinvar/293970 ^@ NM_002065.6(GLUL):c.-706C>T http://identifiers.org/clinvar/294170 ^@ NM_031935.2(HMCN1):c.6063G>A (p.Val2021=) http://identifiers.org/clinvar/294220 ^@ NM_031935.2(HMCN1):c.10370G>A (p.Cys3457Tyr) http://identifiers.org/clinvar/294270 ^@ NM_031935.2(HMCN1):c.13942G>T (p.Ala4648Ser) http://identifiers.org/clinvar/294370 ^@ NM_003748.3(ALDH4A1):c.1377G>C (p.Pro459=) http://identifiers.org/clinvar/294420 ^@ NM_024529.4(CDC73):c.*580A>T http://identifiers.org/clinvar/294470 ^@ NM_024529.4(CDC73):c.*3786T>C http://identifiers.org/clinvar/294570 ^@ NM_001994.2(F13B):c.1815C>T (p.His605=) http://identifiers.org/clinvar/293770 ^@ NM_022089.3(ATP13A2):c.3258G>C (p.Ala1086=) http://identifiers.org/clinvar/293820 ^@ NM_003000.2(SDHB):c.-139G>T http://identifiers.org/clinvar/294870 ^@ NM_001005337.2(PKP1):c.*1643C>A http://identifiers.org/clinvar/294920 ^@ NM_003465.2(CHIT1):c.1049_1072dup24 (p.Trp358_Asn466del) http://identifiers.org/clinvar/295020 ^@ NM_032409.2(PINK1):c.*510G>A http://identifiers.org/clinvar/293870 ^@ NM_033343.3(LHX4):c.924T>C (p.Tyr308=) http://identifiers.org/clinvar/294970 ^@ NM_002389.4(CD46):c.901+4T>A http://identifiers.org/clinvar/293920 ^@ NM_002065.6(GLUL):c.*1057A>G http://identifiers.org/clinvar/295170 ^@ NM_006147.3(IRF6):c.*2472G>A http://identifiers.org/clinvar/336165 ^@ NM_133259.3(LRPPRC):c.1343G>T (p.Gly448Val) http://identifiers.org/clinvar/344162 ^@ NM_000340.1(SLC2A2):c.1221T>C (p.Phe407=) http://identifiers.org/clinvar/343412 ^@ NM_003571.3(BFSP2):c.865G>A (p.Glu289Lys) http://identifiers.org/clinvar/336065 ^@ NM_022437.2(ABCG8):c.220C>G (p.Pro74Ala) http://identifiers.org/clinvar/343712 ^@ NM_032383.4(HPS3):c.2658C>T (p.Asp886=) http://identifiers.org/clinvar/343812 ^@ NM_174878.2(CLRN1):c.*277G>A http://identifiers.org/clinvar/336215 ^@ NM_000341.3(SLC3A1):c.1973G>A (p.Arg658His) http://identifiers.org/clinvar/343912 ^@ NM_000060.4(BTD):c.1285G>A (p.Glu429Lys) http://identifiers.org/clinvar/344112 ^@ NM_145860.1(PDCD10):c.-151C>T http://identifiers.org/clinvar/345101 ^@ NM_198056.2(SCN5A):c.*382T>C http://identifiers.org/clinvar/345151 ^@ NM_017875.2(SLC25A38):c.652A>T (p.Ile218Phe) http://identifiers.org/clinvar/345551 ^@ NM_147196.2(TMIE):c.*313C>T http://identifiers.org/clinvar/345851 ^@ NM_000094.3(COL7A1):c.4048-15T>A http://identifiers.org/clinvar/345951 ^@ NM_000387.5(SLC25A20):c.-130C>G http://identifiers.org/clinvar/346301 ^@ NM_001457.3(FLNB):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/337632 ^@ NM_001079.3(ZAP70):c.810C>T (p.Leu270=) http://identifiers.org/clinvar/345451 ^@ NM_024513.3(FYCO1):c.*2741G>A http://identifiers.org/clinvar/337682 ^@ NM_001298.2(CNGA3):c.*1209delT http://identifiers.org/clinvar/345501 ^@ NM_024513.3(FYCO1):c.3789A>G (p.Thr1263=) http://identifiers.org/clinvar/342412 ^@ NM_000551.3(VHL):c.*448G>T http://identifiers.org/clinvar/345701 ^@ NM_015175.2(NBEAL2):c.*216A>G http://identifiers.org/clinvar/342562 ^@ NM_198196.2(CD96):c.*820A>G http://identifiers.org/clinvar/342612 ^@ NM_000796.5(DRD3):c.-333G>A http://identifiers.org/clinvar/346051 ^@ NM_144499.2(GNAT1):c.830C>T (p.Ala277Val) http://identifiers.org/clinvar/342862 ^@ NM_053025.3(MYLK):c.*77dupC http://identifiers.org/clinvar/343012 ^@ NM_000373.3(UMPS):c.*3598C>G http://identifiers.org/clinvar/343212 ^@ NM_014049.4(ACAD9):c.*231_*232delGA http://identifiers.org/clinvar/347740 ^@ NM_000901.4(NR3C2):c.-8A>T http://identifiers.org/clinvar/343262 ^@ NM_052985.3(IFT122):c.3307-9G>A http://identifiers.org/clinvar/343362 ^@ NM_153240.4(NPHP3):c.*692C>T http://identifiers.org/clinvar/343312 ^@ NM_000539.3(RHO):c.*1601C>T http://identifiers.org/clinvar/348090 ^@ NM_012224.2(NEK1):c.3538G>A (p.Asp1180Asn) http://identifiers.org/clinvar/343612 ^@ NM_001184.3(ATR):c.2776T>C (p.Phe926Leu) http://identifiers.org/clinvar/343462 ^@ NM_000532.4(PCCB):c.338G>A (p.Arg113Gln) http://identifiers.org/clinvar/343512 ^@ NM_024334.2(TMEM43):c.*217G>A http://identifiers.org/clinvar/343762 ^@ NM_000096.3(CP):c.2180T>C (p.Phe727Ser) http://identifiers.org/clinvar/343562 ^@ NM_004628.4(XPC):c.2591G>A (p.Arg864His) http://identifiers.org/clinvar/343862 ^@ NM_004733.3(SLC33A1):c.*869G>A http://identifiers.org/clinvar/343662 ^@ NM_031850.3(AGTR1):c.-339T>G http://identifiers.org/clinvar/343962 ^@ NM_020800.2(IFT80):c.2205C>T (p.Tyr735=) http://identifiers.org/clinvar/358207 ^@ NM_183050.3(BCKDHB):c.*1798C>T http://identifiers.org/clinvar/354028 ^@ NM_174889.4(NDUFAF2):c.-91C>T http://identifiers.org/clinvar/358257 ^@ NM_014165.3(NDUFAF4):c.*1053A>G http://identifiers.org/clinvar/362116 ^@ NM_000497.3(CYP11B1):c.*1258G>A http://identifiers.org/clinvar/353878 ^@ NM_176806.3(MOCS2):c.*175A>G http://identifiers.org/clinvar/353928 ^@ NM_001104631.1(PDE4D):c.*3844G>A http://identifiers.org/clinvar/358457 ^@ NM_006348.3(COG5):c.1869T>C (p.Ala623=) http://identifiers.org/clinvar/362216 ^@ NM_000498.3(CYP11B2):c.595+15G>T http://identifiers.org/clinvar/362316 ^@ NM_006765.3(TUSC3):c.*589G>A http://identifiers.org/clinvar/354078 ^@ NM_001038603.2(MARVELD2):c.38G>A (p.Arg13His) http://identifiers.org/clinvar/362466 ^@ NM_005144.4(HR):c.*240C>A http://identifiers.org/clinvar/354178 ^@ NM_003719.3(PDE8B):c.*63C>T http://identifiers.org/clinvar/354478 ^@ NM_004385.4(VCAN):c.*816C>A http://identifiers.org/clinvar/358707 ^@ NM_001127500.2(MET):c.*684G>A http://identifiers.org/clinvar/354328 ^@ NM_000046.3(ARSB):c.-564A>G http://identifiers.org/clinvar/359007 ^@ NM_020632.2(ATP6V0A4):c.2306C>T (p.Thr769Met) http://identifiers.org/clinvar/355218 ^@ NM_006073.3(TRDN):c.780G>A (p.Lys260=) http://identifiers.org/clinvar/355418 ^@ NM_006208.2(ENPP1):c.*3511T>C http://identifiers.org/clinvar/355468 ^@ NM_172105.3(EYA4):c.*2359C>T http://identifiers.org/clinvar/355268 ^@ NM_000426.3(LAMA2):c.4205G>A (p.Arg1402His) http://identifiers.org/clinvar/355318 ^@ NM_000045.3(ARG1):c.75A>G (p.Glu25=) http://identifiers.org/clinvar/363955 ^@ NM_018444.3(PDP1):c.*886C>T http://identifiers.org/clinvar/355368 ^@ NM_006208.2(ENPP1):c.*698_*699insA http://identifiers.org/clinvar/355618 ^@ NM_003764.3(STX11):c.*1251_*1253dupTTT http://identifiers.org/clinvar/364255 ^@ NM_001701.3(BAAT):c.*1316A>C http://identifiers.org/clinvar/355518 ^@ NM_017651.4(AHI1):c.-293G>T http://identifiers.org/clinvar/364455 ^@ NM_005502.3(ABCA1):c.720+6T>C http://identifiers.org/clinvar/355668 ^@ NM_003764.3(STX11):c.*4373T>A http://identifiers.org/clinvar/355918 ^@ NM_033071.3(SYNE1):c.6581A>G (p.Glu2194Gly) http://identifiers.org/clinvar/356068 ^@ NM_198586.2(NHLRC1):c.*344A>T http://identifiers.org/clinvar/355868 ^@ NM_033071.3(SYNE1):c.14985C>T (p.Thr4995=) http://identifiers.org/clinvar/355968 ^@ NM_032122.4(DTNBP1):c.532G>T (p.Ala178Ser) http://identifiers.org/clinvar/356118 ^@ NM_000367.4(TPMT):c.292G>T (p.Glu98Ter) http://identifiers.org/clinvar/356518 ^@ NM_182548.3(LHFPL5):c.*477T>C http://identifiers.org/clinvar/356318 ^@ NM_006929.4(SKIV2L):c.640A>C (p.Met214Leu) http://identifiers.org/clinvar/356468 ^@ NM_003322.5(TULP1):c.823-8G>A http://identifiers.org/clinvar/356568 ^@ NM_001145717.1(PNPLA1):c.934A>G (p.Lys312Glu) http://identifiers.org/clinvar/357018 ^@ NM_152732.4(RSPH9):c.512G>A (p.Arg171Gln) http://identifiers.org/clinvar/357068 ^@ NM_020745.3(AARS2):c.1644C>T (p.Ser548=) http://identifiers.org/clinvar/366095 ^@ NM_144966.5(FREM1):c.*148A>G http://identifiers.org/clinvar/303097 ^@ NM_006918.4(SC5D):c.*3472A>G http://identifiers.org/clinvar/311235 ^@ NM_000131.4(F7):c.*340T>C http://identifiers.org/clinvar/303247 ^@ NM_022370.3(ROBO3):c.1957A>C (p.Ser653Arg) http://identifiers.org/clinvar/367295 ^@ NM_017662.4(TRPM6):c.6033G>A (p.Thr2011=) http://identifiers.org/clinvar/303347 ^@ NM_145014.2(HYLS1):c.-454C>T http://identifiers.org/clinvar/366895 ^@ NM_001042413.1(GLIS3):c.*3336A>T http://identifiers.org/clinvar/303747 ^@ NM_000352.4(ABCC8):c.4690A>G (p.Lys1564Glu) http://identifiers.org/clinvar/367045 ^@ NM_004170.5(SLC1A1):c.520G>A (p.Asp174Asn) http://identifiers.org/clinvar/367674 ^@ NM_000264.3(PTCH1):c.1476A>G (p.Gly492=) http://identifiers.org/clinvar/367424 ^@ NM_033305.2(VPS13A):c.8649T>G (p.Phe2883Leu) http://identifiers.org/clinvar/298648 ^@ NM_017649.4(CNNM2):c.2188A>G (p.Thr730Ala) http://identifiers.org/clinvar/298698 ^@ NM_000494.3(COL17A1):c.3213G>A (p.Ser1071=) http://identifiers.org/clinvar/367624 ^@ NM_000264.3(PTCH1):c.*2992_*2995delTTGT http://identifiers.org/clinvar/298798 ^@ NM_001134363.2(RBM20):c.2200C>T (p.Arg734Trp) http://identifiers.org/clinvar/304336 ^@ NM_000280.4(PAX6):c.*1604A>T http://identifiers.org/clinvar/364055 ^@ NM_014290.2(TDRD7):c.-122T>C http://identifiers.org/clinvar/304386 ^@ NM_024426.4(WT1):c.*864T>G http://identifiers.org/clinvar/364105 ^@ NM_004612.3(TGFBR1):c.*311G>A http://identifiers.org/clinvar/364155 ^@ NM_004612.3(TGFBR1):c.*2800G>A http://identifiers.org/clinvar/304436 ^@ NM_024426.4(WT1):c.-109G>C http://identifiers.org/clinvar/298598 ^@ NM_016169.3(SUFU):c.*2140G>T http://identifiers.org/clinvar/304686 ^@ NM_021926.3(ALX4):c.*547A>G http://identifiers.org/clinvar/304886 ^@ NM_002334.3(LRP4):c.1501A>C (p.Asn501His) http://identifiers.org/clinvar/304986 ^@ NM_005055.4(RAPSN):c.-113C>T http://identifiers.org/clinvar/313734 ^@ NM_000347.5(SPTB):c.3855+7C>A http://identifiers.org/clinvar/313784 ^@ NM_000347.5(SPTB):c.96T>C (p.Asn32=) http://identifiers.org/clinvar/313834 ^@ NM_152443.2(RDH12):c.-248C>G http://identifiers.org/clinvar/305138 ^@ NM_002032.2(FTH1):c.*312A>G http://identifiers.org/clinvar/313984 ^@ NM_000021.3(PSEN1):c.*2430T>C http://identifiers.org/clinvar/305188 ^@ NM_032667.6(BSCL2):c.-154G>C http://identifiers.org/clinvar/305238 ^@ NM_144585.3(SLC22A12):c.1005C>T (p.Ala335=) http://identifiers.org/clinvar/314084 ^@ NM_031427.3(DNAL1):c.*4176G>A http://identifiers.org/clinvar/314284 ^@ NM_000428.2(LTBP2):c.3262G>A (p.Gly1088Ser) http://identifiers.org/clinvar/314334 ^@ NM_014239.3(EIF2B2):c.570T>G (p.Ile190Met) http://identifiers.org/clinvar/314384 ^@ NM_001040108.1(MLH3):c.2373G>A (p.Leu791=) http://identifiers.org/clinvar/305538 ^@ NM_006946.2(SPTBN2):c.6242G>A (p.Arg2081Gln) http://identifiers.org/clinvar/305638 ^@ NM_145200.3(CABP4):c.-27G>A http://identifiers.org/clinvar/314684 ^@ NM_004863.3(SPTLC2):c.-42A>G http://identifiers.org/clinvar/306151 ^@ NM_000260.3(MYO7A):c.-20G>A http://identifiers.org/clinvar/306201 ^@ NM_000260.3(MYO7A):c.5930G>A (p.Arg1977Gln) http://identifiers.org/clinvar/306352 ^@ NM_012193.3(FZD4):c.*3925_*3940del16 http://identifiers.org/clinvar/306452 ^@ NM_005591.3(MRE11):c.*2444A>G http://identifiers.org/clinvar/311085 ^@ NM_001845.5(COL4A1):c.-20G>T http://identifiers.org/clinvar/311335 ^@ NM_021954.3(GJA3):c.1083A>C (p.Pro361=) http://identifiers.org/clinvar/311435 ^@ NM_002010.2(FGF9):c.*304_*305dupGT http://identifiers.org/clinvar/329746 ^@ NM_000554.5(CRX):c.*1759G>T http://identifiers.org/clinvar/329846 ^@ NM_017636.3(TRPM4):c.375G>A (p.Ser125=) http://identifiers.org/clinvar/329896 ^@ NM_007254.3(PNKP):c.109C>G (p.Pro37Ala) http://identifiers.org/clinvar/318315 ^@ NM_000548.4(TSC2):c.1816A>G (p.Ile606Val) http://identifiers.org/clinvar/318465 ^@ NM_153603.3(COG7):c.1971C>T (p.His657=) http://identifiers.org/clinvar/318515 ^@ NM_001083614.1(EARS2):c.*1720G>A http://identifiers.org/clinvar/330246 ^@ NM_175614.4(NDUFA11):c.-300G>A http://identifiers.org/clinvar/318765 ^@ NM_173201.3(ATP2A1):c.78G>A (p.Pro26=) http://identifiers.org/clinvar/310580 ^@ NM_020661.3(AICDA):c.427+4C>T http://identifiers.org/clinvar/330446 ^@ NM_000208.3(INSR):c.3054G>A (p.Val1018=) http://identifiers.org/clinvar/318815 ^@ NM_001770.5(CD19):c.*37A>G http://identifiers.org/clinvar/310635 ^@ NM_025114.3(CEP290):c.-38G>C http://identifiers.org/clinvar/330596 ^@ NM_030957.3(ADAMTS10):c.1901-11G>A http://identifiers.org/clinvar/318965 ^@ NM_001330.3(CTF1):c.*502T>C http://identifiers.org/clinvar/337782 ^@ NM_006363.4(SEC23B):c.-186G>T http://identifiers.org/clinvar/310685 ^@ NM_002108.3(HAL):c.*836C>T http://identifiers.org/clinvar/319115 ^@ NM_000243.2(MEFV):c.651G>C (p.Ala217=) http://identifiers.org/clinvar/337882 ^@ NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) http://identifiers.org/clinvar/310785 ^@ NM_003276.2(TMPO):c.*526A>G http://identifiers.org/clinvar/310885 ^@ NM_004115.3(FGF14):c.*567G>C http://identifiers.org/clinvar/319415 ^@ NM_024589.2(ROGDI):c.-338C>T http://identifiers.org/clinvar/319566 ^@ NM_015247.2(CYLD):c.*4691A>G http://identifiers.org/clinvar/338182 ^@ NM_006892.3(DNMT3B):c.1996+7A>G http://identifiers.org/clinvar/311135 ^@ NM_001846.3(COL4A2):c.1790A>G (p.Lys597Arg) http://identifiers.org/clinvar/319666 ^@ NM_015272.4(RPGRIP1L):c.303G>A (p.Arg101=) http://identifiers.org/clinvar/311285 ^@ NM_021954.3(GJA3):c.*3373delT http://identifiers.org/clinvar/338432 ^@ NM_000457.4(HNF4A):c.*145T>A http://identifiers.org/clinvar/311385 ^@ NM_006783.4(GJB6):c.-26A>G http://identifiers.org/clinvar/338783 ^@ NM_020436.4(SALL4):c.349G>A (p.Gly117Arg) http://identifiers.org/clinvar/338833 ^@ NM_000782.4(CYP24A1):c.295A>G (p.Met99Val) http://identifiers.org/clinvar/338883 ^@ NM_002591.3(PCK1):c.826G>A (p.Glu276Lys) http://identifiers.org/clinvar/339083 ^@ NM_001001433.2(STX16):c.*1797C>G http://identifiers.org/clinvar/339483 ^@ NM_012469.3(PRPF6):c.2431+15C>T http://identifiers.org/clinvar/321405 ^@ NM_002386.3(MC1R):c.-374G>A http://identifiers.org/clinvar/321559 ^@ NM_000833.4(GRIN2A):c.*2835C>T http://identifiers.org/clinvar/314134 ^@ NM_031427.3(DNAL1):c.*6341_*6343delGCG http://identifiers.org/clinvar/321609 ^@ NM_000833.4(GRIN2A):c.2532G>A (p.Lys844=) http://identifiers.org/clinvar/314184 ^@ NM_005589.3(ALDH6A1):c.112-11_112-8dupGTTT http://identifiers.org/clinvar/314234 ^@ NM_182894.2(VSX2):c.*1803A>C http://identifiers.org/clinvar/367774 ^@ NM_002294.2(LAMP2):c.*1096T>C http://identifiers.org/clinvar/326907 ^@ NM_017653.3(DYM):c.193+9G>A http://identifiers.org/clinvar/367874 ^@ NM_002351.4(SH2D1A):c.*51_*52delAA http://identifiers.org/clinvar/326957 ^@ NM_001080467.2(MYO5B):c.*2009T>A http://identifiers.org/clinvar/327107 ^@ NM_005359.5(SMAD4):c.-128+12A>G http://identifiers.org/clinvar/327307 ^@ NM_001083962.1(TCF4):c.-21+10G>T http://identifiers.org/clinvar/368413 ^@ NM_007137.3(ZNF81):c.*1029G>T http://identifiers.org/clinvar/327407 ^@ NM_000140.3(FECH):c.*1032G>A http://identifiers.org/clinvar/368463 ^@ NM_003179.2(SYP):c.*280C>T http://identifiers.org/clinvar/327507 ^@ NM_013435.2(RAX):c.*1525G>A http://identifiers.org/clinvar/368513 ^@ NM_000084.4(CLCN5):c.*3255C>T http://identifiers.org/clinvar/327557 ^@ NM_005570.3(LMAN1):c.*1390T>G http://identifiers.org/clinvar/329346 ^@ NM_030578.3(B9D2):c.109T>C (p.Ser37Pro) http://identifiers.org/clinvar/327607 ^@ NM_133459.3(CCBE1):c.*3710A>G http://identifiers.org/clinvar/368663 ^@ NM_001109878.1(TBX22):c.-2-7C>A http://identifiers.org/clinvar/327707 ^@ NM_133459.3(CCBE1):c.431C>T (p.Thr144Met) http://identifiers.org/clinvar/329596 ^@ NM_025136.3(OPA3):c.*4850_*4852delAAA http://identifiers.org/clinvar/327807 ^@ NM_005786.5(TSHZ1):c.627G>A (p.Ala209=) http://identifiers.org/clinvar/327907 ^@ NM_001130823.2(DNMT1):c.1944C>T (p.Phe648=) http://identifiers.org/clinvar/329796 ^@ NM_002103.4(GYS1):c.*725C>T http://identifiers.org/clinvar/329996 ^@ NM_144687.3(NLRP12):c.*118G>A http://identifiers.org/clinvar/330346 ^@ NM_000208.3(INSR):c.*4719dupT http://identifiers.org/clinvar/330396 ^@ NM_000208.3(INSR):c.*2014C>T http://identifiers.org/clinvar/337732 ^@ NM_000214.2(JAG1):c.*641C>A http://identifiers.org/clinvar/328996 ^@ NM_000540.2(RYR1):c.2356G>A (p.Val786Ile) http://identifiers.org/clinvar/329046 ^@ NM_000540.2(RYR1):c.6211C>T (p.Arg2071Trp) http://identifiers.org/clinvar/337932 ^@ NM_198994.2(TGM6):c.1653C>T (p.His551=) http://identifiers.org/clinvar/338032 ^@ NM_032609.2(COX4I2):c.83-8_83-7delGT http://identifiers.org/clinvar/338132 ^@ NM_015338.5(ASXL1):c.*1016C>T http://identifiers.org/clinvar/329296 ^@ NM_181882.2(PRX):c.-199+7G>C http://identifiers.org/clinvar/338332 ^@ NM_015474.3(SAMHD1):c.*503A>G http://identifiers.org/clinvar/329446 ^@ NM_014297.4(ETHE1):c.-41G>A http://identifiers.org/clinvar/329546 ^@ NM_206900.2(RTN2):c.*51T>C http://identifiers.org/clinvar/338582 ^@ NM_001250.5(CD40):c.*310C>G http://identifiers.org/clinvar/329646 ^@ NM_025136.3(OPA3):c.*2008C>T http://identifiers.org/clinvar/329696 ^@ NM_000554.5(CRX):c.105C>A (p.Ala35=) http://identifiers.org/clinvar/338732 ^@ NM_006420.2(ARFGEF2):c.*2014T>G http://identifiers.org/clinvar/339133 ^@ NM_207034.2(EDN3):c.*148_*149delCC http://identifiers.org/clinvar/330046 ^@ NM_144687.3(NLRP12):c.289+13C>T http://identifiers.org/clinvar/330096 ^@ NM_015629.3(PRPF31):c.239-13C>T http://identifiers.org/clinvar/339533 ^@ NM_015192.3(PLCB1):c.*1145A>C http://identifiers.org/clinvar/337832 ^@ NM_024411.4(PDYN):c.*138A>G http://identifiers.org/clinvar/340573 ^@ NM_014339.6(IL17RA):c.465G>C (p.Gln155His) http://identifiers.org/clinvar/338482 ^@ NM_000457.4(HNF4A):c.*2703delT http://identifiers.org/clinvar/340673 ^@ NM_014339.6(IL17RA):c.*3179dupT http://identifiers.org/clinvar/340873 ^@ NM_004782.3(SNAP29):c.*2105T>G http://identifiers.org/clinvar/340923 ^@ NM_016327.2(UPB1):c.-65T>C http://identifiers.org/clinvar/341023 ^@ NM_022081.5(HPS4):c.81G>A (p.Lys27=) http://identifiers.org/clinvar/338983 ^@ NM_004738.4(VAPB):c.*3870G>C http://identifiers.org/clinvar/341123 ^@ NM_000268.3(NF2):c.*1848C>T http://identifiers.org/clinvar/341273 ^@ NM_000343.3(SLC5A1):c.*649G>A http://identifiers.org/clinvar/341373 ^@ NM_000362.4(TIMP3):c.*1796G>A http://identifiers.org/clinvar/341473 ^@ NM_002473.5(MYH9):c.*656T>C http://identifiers.org/clinvar/341573 ^@ NM_153609.3(TMPRSS6):c.*303T>G http://identifiers.org/clinvar/392002 ^@ NM_014141.5(CNTNAP2):c.2543T>C (p.Leu848Pro) http://identifiers.org/clinvar/379087 ^@ NM_000314.6(PTEN):c.222A>G (p.Arg74=) http://identifiers.org/clinvar/381580 ^@ NM_000507.3(FBP1):c.841G>A (p.Glu281Lys) http://identifiers.org/clinvar/393002 ^@ NM_000823.3(GHRHR):c.230C>T (p.Pro77Leu) http://identifiers.org/clinvar/381881 ^@ NM_004092.3(ECHS1):c.10C>T (p.Leu4=) http://identifiers.org/clinvar/378937 ^@ NM_005343.3(HRAS):c.150G>A (p.Thr50=) http://identifiers.org/clinvar/379237 ^@ NM_023110.2(FGFR1):c.2152C>G (p.Arg718Gly) http://identifiers.org/clinvar/381931 ^@ NM_006231.3(POLE):c.6532-11G>C http://identifiers.org/clinvar/380127 ^@ NM_003476.4(CSRP3):c.141G>A (p.Thr47=) http://identifiers.org/clinvar/386964 ^@ NM_000368.4(TSC1):c.42G>A (p.Leu14=) http://identifiers.org/clinvar/386514 ^@ NM_004373.3(COX6A1):c.36G>C (p.Leu12=) http://identifiers.org/clinvar/387364 ^@ NM_000545.6(HNF1A):c.-23-504C>T http://identifiers.org/clinvar/386464 ^@ NM_020822.2(KCNT1):c.2949C>T (p.Phe983=) http://identifiers.org/clinvar/381981 ^@ NM_024698.5(SLC25A22):c.742+18C>T http://identifiers.org/clinvar/386364 ^@ NM_017617.4(NOTCH1):c.2587+20G>A http://identifiers.org/clinvar/380327 ^@ NM_000834.3(GRIN2B):c.4287G>A (p.Pro1429=) http://identifiers.org/clinvar/382031 ^@ NM_025152.2(NUBPL):c.693+19A>G http://identifiers.org/clinvar/386314 ^@ NM_006939.3(SOS2):c.1785C>T (p.Gly595=) http://identifiers.org/clinvar/381030 ^@ NM_006009.3(TUBA1A):c.1044C>T (p.Pro348=) http://identifiers.org/clinvar/385525 ^@ NM_004985.4(KRAS):c.*13C>T http://identifiers.org/clinvar/384975 ^@ NM_033087.3(ALG2):c.216G>T (p.Gly72=) http://identifiers.org/clinvar/385175 ^@ NM_004281.3(BAG3):c.204C>G (p.Gly68=) http://identifiers.org/clinvar/393052 ^@ NM_004667.5(HERC2):c.11698G>A (p.Glu3900Lys) http://identifiers.org/clinvar/378179 ^@ NM_018109.3(MTPAP):c.1278T>C (p.Ser426=) http://identifiers.org/clinvar/384725 ^@ NM_144670.5(A2ML1):c.2868C>T (p.Ala956=) http://identifiers.org/clinvar/380930 ^@ NM_015087.4(SPG20):c.363C>T (p.Asp121=) http://identifiers.org/clinvar/378585 ^@ NM_014252.3(SLC25A15):c.623-17A>G http://identifiers.org/clinvar/380628 ^@ NM_003850.2(SUCLA2):c.9C>T (p.Ala3=) http://identifiers.org/clinvar/385025 ^@ NM_003850.2(SUCLA2):c.-12T>A http://identifiers.org/clinvar/387014 ^@ NM_002860.3(ALDH18A1):c.781C>A (p.Leu261Ile) http://identifiers.org/clinvar/392302 ^@ NM_001080463.1(DYNC2H1):c.2289G>C (p.Met763Ile) http://identifiers.org/clinvar/379137 ^@ NM_000059.3(BRCA2):c.9129A>G (p.Glu3043=) http://identifiers.org/clinvar/381080 ^@ NM_002693.2(POLG):c.1752A>C (p.Ala584=) http://identifiers.org/clinvar/386214 ^@ NM_002474.2(MYH11):c.2520+7G>T http://identifiers.org/clinvar/392402 ^@ NM_022725.3(FANCF):c.359G>A (p.Gly120Asp) http://identifiers.org/clinvar/381380 ^@ NM_000548.4(TSC2):c.3489C>T (p.Ala1163=) http://identifiers.org/clinvar/380277 ^@ NM_000257.3(MYH7):c.2222G>A (p.Gly741Glu) http://identifiers.org/clinvar/386614 ^@ NM_001876.3(CPT1A):c.2142+9G>A http://identifiers.org/clinvar/378987 ^@ NM_002755.3(MAP2K1):c.568+9T>C http://identifiers.org/clinvar/393102 ^@ NM_005477.2(HCN4):c.322G>C (p.Gly108Arg) http://identifiers.org/clinvar/381180 ^@ NM_001013703.3(EIF2AK4):c.2249+7G>A http://identifiers.org/clinvar/379437 ^@ NM_032790.3(ORAI1):c.705T>C (p.Ala235=) http://identifiers.org/clinvar/383673 ^@ NM_005477.2(HCN4):c.3468A>G (p.Thr1156=) http://identifiers.org/clinvar/47729 ^@ NM_001256850.1(TTN):c.10360+1372C>T http://identifiers.org/clinvar/48131 ^@ NM_173477.4(USH1G):c.424G>A (p.Glu142Lys) http://identifiers.org/clinvar/48181 ^@ NM_194248.2(OTOF):c.1961G>A (p.Arg654Gln) http://identifiers.org/clinvar/48231 ^@ NM_194248.2(OTOF):c.4228-1G>A http://identifiers.org/clinvar/48281 ^@ NM_198056.2(SCN5A):c.1195C>T (p.Leu399=) http://identifiers.org/clinvar/48332 ^@ NM_201555.1(FHL2):c.819C>T (p.Pro273=) http://identifiers.org/clinvar/48382 ^@ NM_206933.2(USH2A):c.11794C>T (p.Leu3932=) http://identifiers.org/clinvar/48432 ^@ NM_206933.2(USH2A):c.14226G>A (p.Thr4742=) http://identifiers.org/clinvar/48482 ^@ NM_206933.2(USH2A):c.2052A>G (p.Gln684=) http://identifiers.org/clinvar/117 ^@ NM_000071.2(CBS):c.919G>A (p.Gly307Ser) http://identifiers.org/clinvar/131 ^@ NM_000071.2(CBS):c.1058C>T (p.Thr353Met) http://identifiers.org/clinvar/281 ^@ NM_001159772.1(CANT1):c.909_910insGCCGC (p.Gln304Alafs) http://identifiers.org/clinvar/328 ^@ NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) http://identifiers.org/clinvar/351 ^@ NF1, IVS34, G-A, +18 http://identifiers.org/clinvar/676 ^@ NM_000312.3(PROC):c.1335C>G (p.Ile445Met) http://identifiers.org/clinvar/931 ^@ NM_000404.3(GLB1):c.818G>T (p.Trp273Leu) http://identifiers.org/clinvar/936 ^@ NM_000404.3(GLB1):c.75+2dupT http://identifiers.org/clinvar/1139 ^@ NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs) http://identifiers.org/clinvar/1214 ^@ NM_032581.3(FAM126A):c.51+1G>A http://identifiers.org/clinvar/1265 ^@ NM_194318.3(B3GLCT):c.347+5G>A http://identifiers.org/clinvar/1355 ^@ ALDH5A1, IVS9, G-T, +1 http://identifiers.org/clinvar/1400 ^@ NM_153609.3(TMPRSS6):c.1813delG (p.Ala605Profs) http://identifiers.org/clinvar/1446 ^@ NM_000190.3(HMBS):c.500G>A (p.Arg167Gln) http://identifiers.org/clinvar/1491 ^@ NM_001039141.2(TRIOBP):c.1741C>T (p.Gln581Ter) http://identifiers.org/clinvar/1537 ^@ NM_000237.2(LPL):c.1227G>A (p.Trp409Ter) http://identifiers.org/clinvar/1582 ^@ NM_139281.2(WDR36):c.1345G>A (p.Ala449Thr) http://identifiers.org/clinvar/1677 ^@ MANBA, 10-BP INS, NT562 http://identifiers.org/clinvar/1908 ^@ NM_000411.6(HLCS):c.1711G>A (p.Asp571Asn) http://identifiers.org/clinvar/1953 ^@ NM_145200.3(CABP4):c.370C>T (p.Arg124Cys) http://identifiers.org/clinvar/1999 ^@ NM_199242.2(UNC13D):c.1389+1G>A http://identifiers.org/clinvar/2042 ^@ NM_032146.5(ARL6):c.92C>T (p.Thr31Met) http://identifiers.org/clinvar/2088 ^@ NM_000159.3(GCDH):c.1198G>A (p.Val400Met) http://identifiers.org/clinvar/242816 ^@ NM_130468.3(CHST14):c.403C>G (p.Arg135Gly) http://identifiers.org/clinvar/2855 ^@ NM_173076.2(ABCA12):c.4139A>G (p.Asn1380Ser) http://identifiers.org/clinvar/2900 ^@ NM_000419.4(ITGA2B):c.1787T>C (p.Ile596Thr) http://identifiers.org/clinvar/2946 ^@ RAI1, 1-BP DEL, 4929C http://identifiers.org/clinvar/2992 ^@ NM_000543.4(SMPD1):c.1267C>T (p.His423Tyr) http://identifiers.org/clinvar/3039 ^@ NM_000051.3(ATM):c.7268A>G (p.Glu2423Gly) http://identifiers.org/clinvar/3086 ^@ ARSA, 3-BP DEL, PHE398DEL http://identifiers.org/clinvar/3138 ^@ NM_000218.2(KCNQ1):c.1760C>T (p.Thr587Met) http://identifiers.org/clinvar/3186 ^@ NM_017653.3(DYM):c.396T>A (p.Tyr132Ter) http://identifiers.org/clinvar/3230 ^@ NM_013382.5(POMT2):c.2243G>C (p.Trp748Ser) http://identifiers.org/clinvar/3324 ^@ SALL4, 1-BP DEL, 326C http://identifiers.org/clinvar/10665 ^@ NM_000133.3(F9):c.1031T>C (p.Ile344Thr) http://identifiers.org/clinvar/10710 ^@ NM_001008222.2(ZDHHC9):c.167+5G>C http://identifiers.org/clinvar/10756 ^@ GLA, 2-BP DEL, NT1176 http://identifiers.org/clinvar/10800 ^@ NM_015107.2(PHF8):c.836T>C (p.Phe279Ser) http://identifiers.org/clinvar/10846 ^@ NM_000054.4(AVPR2):c.602G>A (p.Gly201Asp) http://identifiers.org/clinvar/10891 ^@ NM_000284.3(PDHA1):c.*79_*90dupAGTCAATGAAAT http://identifiers.org/clinvar/10937 ^@ CYBB, IVS5, G-T, +978 http://identifiers.org/clinvar/11072 ^@ PHF6, 1-BP INS, 27A http://identifiers.org/clinvar/11117 ^@ NM_000377.2(WAS):c.707C>G (p.Ala236Gly) http://identifiers.org/clinvar/11163 ^@ NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter) http://identifiers.org/clinvar/11208 ^@ DMD, PROMOTER DEL http://identifiers.org/clinvar/11253 ^@ DMD, 1-BP INS, NT2928 http://identifiers.org/clinvar/11299 ^@ NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg) http://identifiers.org/clinvar/11344 ^@ NM_000061.2(BTK):c.37C>T (p.Arg13Ter) http://identifiers.org/clinvar/11753 ^@ NM_001110556.1(FLNA):c.6915C>G (p.Tyr2305Ter) http://identifiers.org/clinvar/11804 ^@ CLCN5, 1-BP DEL, 2085C http://identifiers.org/clinvar/11854 ^@ MYO7A, IVS3AS, A-G, -2 http://identifiers.org/clinvar/11904 ^@ NM_000128.3(F11):c.1760G>C (p.Trp587Ser) http://identifiers.org/clinvar/11954 ^@ NM_000191.2(HMGCL):c.206_207delCT (p.Ser69Cysfs) http://identifiers.org/clinvar/12006 ^@ NM_000151.3(G6PC):c.370G>A (p.Ala124Thr) http://identifiers.org/clinvar/12056 ^@ F10, VAL298MET http://identifiers.org/clinvar/12106 ^@ C7, IVS1, G-A, -1 http://identifiers.org/clinvar/12156 ^@ NM_000500.7(CYP21A2):c.874G>A (p.Gly292Ser) http://identifiers.org/clinvar/12211 ^@ NM_000490.4(AVP):c.287G>T (p.Gly96Val) http://identifiers.org/clinvar/12262 ^@ NM_003361.3(UMOD):c.898T>G (p.Cys300Gly) http://identifiers.org/clinvar/12314 ^@ NM_001014796.1(DDR2):c.2177T>G (p.Ile726Arg) http://identifiers.org/clinvar/12365 ^@ NM_000546.5(TP53):c.733G>A (p.Gly245Ser) http://identifiers.org/clinvar/12416 ^@ NM_000364.3(TNNT2):c.635G>T (p.Arg212Leu) http://identifiers.org/clinvar/12467 ^@ NM_003289.3(TPM2):c.606C>G (p.Asn202Lys) http://identifiers.org/clinvar/12517 ^@ NM_003242.5(TGFBR2):c.1273A>G (p.Met425Val) http://identifiers.org/clinvar/12567 ^@ NM_001128177.1(THRB):c.727C>T (p.Arg243Trp) http://identifiers.org/clinvar/12618 ^@ NM_001063.3(TF):c.1936A>G (p.Lys646Glu) http://identifiers.org/clinvar/12668 ^@ PRKAR1A, 2-BP DEL, 576TG http://identifiers.org/clinvar/12719 ^@ NM_000361.2(THBD):c.158A>G (p.Asp53Gly) http://identifiers.org/clinvar/12770 ^@ NM_003172.3(SURF1):c.845_846delCT (p.Ser282Cysfs) http://identifiers.org/clinvar/12820 ^@ NM_003106.3(SOX2):c.163C>T (p.Gln55Ter) http://identifiers.org/clinvar/12871 ^@ NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) http://identifiers.org/clinvar/12921 ^@ NM_000702.3(ATP1A2):c.1133C>A (p.Thr378Asn) http://identifiers.org/clinvar/12971 ^@ NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) http://identifiers.org/clinvar/13022 ^@ NM_000539.3(RHO):c.316G>T (p.Gly106Trp) http://identifiers.org/clinvar/13073 ^@ NM_000321.2(RB1):c.2359C>T (p.Arg787Ter) http://identifiers.org/clinvar/36657 ^@ NM_004387.3(NKX2-5):c.237G>C (p.Pro79=) http://identifiers.org/clinvar/36710 ^@ NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys) http://identifiers.org/clinvar/36763 ^@ NM_198056.2(SCN5A):c.4509C>T (p.Ser1503=) http://identifiers.org/clinvar/36813 ^@ NM_000545.6(HNF1A):c.1854C>G (p.Ile618Met) http://identifiers.org/clinvar/36863 ^@ NM_003242.5(TGFBR2):c.1163A>G (p.Lys388Arg) http://identifiers.org/clinvar/36914 ^@ NM_001079.3(ZAP70):c.1155C>T (p.Arg385=) http://identifiers.org/clinvar/37009 ^@ NM_153033.4(KCTD7):c.594delC (p.Ile199Serfs) http://identifiers.org/clinvar/37090 ^@ NM_012461.2(TINF2):c.826delA (p.Arg276Glyfs) http://identifiers.org/clinvar/37206 ^@ NM_173630.3(RTTN):c.80G>A (p.Cys27Tyr) http://identifiers.org/clinvar/37304 ^@ MERTK, 91-KB DEL http://identifiers.org/clinvar/37602 ^@ NM_007294.3(BRCA1):c.466dupC (p.Leu156Profs) http://identifiers.org/clinvar/37657 ^@ NM_007294.3(BRCA1):c.5335delC (p.Gln1779Asnfs) http://identifiers.org/clinvar/37712 ^@ NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) http://identifiers.org/clinvar/37763 ^@ NM_000059.3(BRCA2):c.1813delA (p.Ile605Tyrfs) http://identifiers.org/clinvar/37816 ^@ NM_000059.3(BRCA2):c.303C>A (p.Phe101Leu) http://identifiers.org/clinvar/38996 ^@ NM_004614.4(TK2):c.644T>C (p.Leu215Pro) http://identifiers.org/clinvar/39047 ^@ NM_024312.4(GNPTAB):c.2220_2221dupGA (p.Met741Argfs) http://identifiers.org/clinvar/50895 ^@ NM_024312.4(GNPTAB):c.614A>C (p.Gln205Pro) http://identifiers.org/clinvar/39099 ^@ NM_198253.2(TERT):c.112delC (p.Leu38Trpfs) http://identifiers.org/clinvar/39154 ^@ NM_198578.3(LRRK2):c.2789A>G (p.Gln930Arg) http://identifiers.org/clinvar/39204 ^@ NM_198578.3(LRRK2):c.5173C>T (p.Arg1725Ter) http://identifiers.org/clinvar/39255 ^@ NM_207352.3(CYP4V2):c.1226-6_1235delTGACAGCAGGTTACAG http://identifiers.org/clinvar/39468 ^@ ASLX1, 5-BP DEL, NT2407 http://identifiers.org/clinvar/39519 ^@ NM_012082.3(ZFPM2):c.2209A>G (p.Lys737Glu) http://identifiers.org/clinvar/39569 ^@ NM_153373.3(PHYKPL):c.718G>A (p.Gly240Arg) http://identifiers.org/clinvar/39621 ^@ HARS2, VAL368LEU http://identifiers.org/clinvar/39671 ^@ DDHD1, 1766G-A http://identifiers.org/clinvar/39723 ^@ NM_003846.2(PEX11B):c.64C>T (p.Gln22Ter) http://identifiers.org/clinvar/39774 ^@ NM_001382.3(DPAGT1):c.161+5G>A http://identifiers.org/clinvar/39825 ^@ NM_006567.4(FARS2):c.986T>C (p.Ile329Thr) http://identifiers.org/clinvar/39968 ^@ NM_001142339.2(GNAL):c.878C>A (p.Ser293Ter) http://identifiers.org/clinvar/40068 ^@ NM_001080463.1(DYNC2H1):c.7985G>A (p.Arg2662Gln) http://identifiers.org/clinvar/40217 ^@ NM_002397.4(MEF2C):c.458delA (p.Asn153Thrfs) http://identifiers.org/clinvar/40359 ^@ NM_004333.4(BRAF):c.1165C>T (p.Arg389Cys) http://identifiers.org/clinvar/40425 ^@ NM_005188.3(CBL):c.2542G>A (p.Ala848Thr) http://identifiers.org/clinvar/40494 ^@ NM_002834.4(PTPN11):c.181G>C (p.Asp61His) http://identifiers.org/clinvar/40552 ^@ NM_002834.4(PTPN11):c.1472C>T (p.Pro491Leu) http://identifiers.org/clinvar/40612 ^@ NM_002880.3(RAF1):c.935T>C (p.Val312Ala) http://identifiers.org/clinvar/40686 ^@ NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) http://identifiers.org/clinvar/40779 ^@ NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) http://identifiers.org/clinvar/53456 ^@ NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) http://identifiers.org/clinvar/53509 ^@ NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) http://identifiers.org/clinvar/53559 ^@ NM_000492.3(CFTR):c.2754T>G (p.Ile918Met) http://identifiers.org/clinvar/53609 ^@ NM_000492.3(CFTR):c.2968dupA (p.Thr990Asnfs) http://identifiers.org/clinvar/53661 ^@ NM_000492.3(CFTR):c.3140-1G>A http://identifiers.org/clinvar/53712 ^@ NM_000492.3(CFTR):c.3302T>G (p.Met1101Arg) http://identifiers.org/clinvar/53763 ^@ NM_000492.3(CFTR):c.3503A>G (p.Asp1168Gly) http://identifiers.org/clinvar/53815 ^@ NM_000492.3(CFTR):c.380T>G (p.Leu127Ter) http://identifiers.org/clinvar/53867 ^@ NM_000492.3(CFTR):c.3982_3984delATAinsTT (p.Ile1328Leufs) http://identifiers.org/clinvar/53918 ^@ NM_000492.3(CFTR):c.4201G>A (p.Glu1401Lys) http://identifiers.org/clinvar/53968 ^@ NM_000492.3(CFTR):c.484A>G (p.Lys162Glu) http://identifiers.org/clinvar/54018 ^@ NM_000492.3(CFTR):c.595C>T (p.His199Tyr) http://identifiers.org/clinvar/54069 ^@ NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) http://identifiers.org/clinvar/54120 ^@ NM_007294.3(BRCA1):c.1081T>C (p.Ser361Pro) http://identifiers.org/clinvar/54170 ^@ NM_007294.3(BRCA1):c.1240_1246delGACGTTC (p.Asp414Terfs) http://identifiers.org/clinvar/54220 ^@ NM_007294.3(BRCA1):c.1361G>A (p.Ser454Asn) http://identifiers.org/clinvar/54271 ^@ NM_007294.3(BRCA1):c.1499delA (p.Asn500Ilefs) http://identifiers.org/clinvar/54321 ^@ NM_007294.3(BRCA1):c.1669A>G (p.Thr557Ala) http://identifiers.org/clinvar/54372 ^@ NM_007294.3(BRCA1):c.1866G>T (p.Ala622=) http://identifiers.org/clinvar/54422 ^@ NM_007294.3(BRCA1):c.1967A>G (p.Asn656Ser) http://identifiers.org/clinvar/54472 ^@ NM_007294.3(BRCA1):c.213-1G>A http://identifiers.org/clinvar/54522 ^@ NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) http://identifiers.org/clinvar/54572 ^@ NM_007294.3(BRCA1):c.2443delA (p.Ile815Phefs) http://identifiers.org/clinvar/54622 ^@ NM_007294.3(BRCA1):c.2617dupT (p.Ser873Phefs) http://identifiers.org/clinvar/54672 ^@ NM_007294.3(BRCA1):c.2759T>C (p.Val920Ala) http://identifiers.org/clinvar/54722 ^@ NM_007294.3(BRCA1):c.2923C>T (p.Gln975Ter) http://identifiers.org/clinvar/54772 ^@ NM_007294.3(BRCA1):c.3108dupT (p.Lys1037Terfs) http://identifiers.org/clinvar/54872 ^@ NM_007294.3(BRCA1):c.3413delG (p.Gly1138Glufs) http://identifiers.org/clinvar/56293 ^@ NM_001042432.1(CLN3):c.954_962+18del27 http://identifiers.org/clinvar/56345 ^@ NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu) http://identifiers.org/clinvar/56396 ^@ NM_003332.3(TYROBP):c.145G>C (p.Gly49Arg) http://identifiers.org/clinvar/56447 ^@ NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) http://identifiers.org/clinvar/56497 ^@ NM_004646.3(NPHS1):c.3250dupG (p.Val1084Glyfs) http://identifiers.org/clinvar/56548 ^@ NM_007035.3(KERA):c.1026delC (p.Cys343Alafs) http://identifiers.org/clinvar/56601 ^@ NM_017739.3(POMGNT1):c.593delG (p.Ser198Thrfs) http://identifiers.org/clinvar/56656 ^@ NM_017890.4(VPS13B):c.292-2A>G http://identifiers.org/clinvar/56706 ^@ NM_018941.3(CLN8):c.320T>G (p.Ile107Ser) http://identifiers.org/clinvar/56756 ^@ NM_030943.3(AMN):c.663G>A (p.Trp221Ter) http://identifiers.org/clinvar/56833 ^@ NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) http://identifiers.org/clinvar/57016 ^@ GRCh38/hg38 4p15.1(chr4:31865930-32718427)x1 http://identifiers.org/clinvar/57069 ^@ GRCh38/hg38 7q31.33(chr7:126029439-126947804)x1 http://identifiers.org/clinvar/57125 ^@ GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 http://identifiers.org/clinvar/57176 ^@ GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3 http://identifiers.org/clinvar/57228 ^@ GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 http://identifiers.org/clinvar/57281 ^@ GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 http://identifiers.org/clinvar/57334 ^@ GRCh38/hg38 2p12(chr2:82660196-83001824)x1 http://identifiers.org/clinvar/57387 ^@ GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 http://identifiers.org/clinvar/101154 ^@ NM_000090.3(COL3A1):c.1831_1832delAA (p.Asn611Trpfs) http://identifiers.org/clinvar/101204 ^@ NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ) http://identifiers.org/clinvar/101254 ^@ NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys) http://identifiers.org/clinvar/101304 ^@ NM_000090.3(COL3A1):c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2) http://identifiers.org/clinvar/101354 ^@ NM_000090.3(COL3A1):c.3545G>T (p.Gly1182Val) http://identifiers.org/clinvar/101404 ^@ NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del) http://identifiers.org/clinvar/101454 ^@ NM_000090.3(COL3A1):c.2284G>C (p.Gly762Arg) http://identifiers.org/clinvar/101506 ^@ NM_173812.4(DPY19L2):c.1183delT (p.Ser395Leufs) http://identifiers.org/clinvar/102467 ^@ NM_000277.1(PAH):c.1010G>T (p.Gly337Val) http://identifiers.org/clinvar/102521 ^@ NM_000277.1(PAH):c.1097C>A (p.Pro366His) http://identifiers.org/clinvar/120268 ^@ NM_000277.1(PAH):c.169G>T (p.Glu57Ter) http://identifiers.org/clinvar/120318 ^@ NM_004996.3(ABCC1):c.3139T>G (p.Cys1047Gly) http://identifiers.org/clinvar/125972 ^@ NM_000059.3(BRCA2):c.-14T>C http://identifiers.org/clinvar/126031 ^@ NM_000059.3(BRCA2):c.4006_4007insA (p.Phe1336Tyrfs) http://identifiers.org/clinvar/126106 ^@ NM_000059.3(BRCA2):c.6513G= (p.Val2171=) http://identifiers.org/clinvar/126164 ^@ NM_000059.3(BRCA2):c.7977-2A>T http://identifiers.org/clinvar/126231 ^@ NM_001080522.2(CC2D2A):c.1765-24A>G http://identifiers.org/clinvar/126281 ^@ NM_015272.4(RPGRIP1L):c.530-29G>A http://identifiers.org/clinvar/126332 ^@ NM_020732.3(ARID1B):c.4377delG (p.Pro1460Leufs) http://identifiers.org/clinvar/126388 ^@ NM_016381.5(TREX1):c.562delC (p.Leu188Cysfs) http://identifiers.org/clinvar/126456 ^@ NM_000041.3(APOE):c.500_502delTCC (p.Leu167del) http://identifiers.org/clinvar/126518 ^@ NM_005228.4(EGFR):c.2188C>G (p.Leu730Val) http://identifiers.org/clinvar/126593 ^@ NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) http://identifiers.org/clinvar/126644 ^@ NM_024675.3(PALB2):c.229delT (p.Cys77Valfs) http://identifiers.org/clinvar/126695 ^@ NM_024675.3(PALB2):c.2903C>G (p.Ala968Gly) http://identifiers.org/clinvar/126745 ^@ NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) http://identifiers.org/clinvar/126796 ^@ NM_000321.2(RB1):c.2164A>T (p.Lys722Ter) http://identifiers.org/clinvar/126847 ^@ NM_006172.3(NPPA):c.190A>C (p.Ser64Arg) http://identifiers.org/clinvar/126906 ^@ NM_007194.3(CHEK2):c.-114A>G http://identifiers.org/clinvar/126956 ^@ NM_000428.2(LTBP2):c.4356G>A (p.Pro1452=) http://identifiers.org/clinvar/127006 ^@ NM_005732.3(RAD50):c.3684T>C (p.Ile1228=) http://identifiers.org/clinvar/127056 ^@ NM_134424.3(RAD52):c.467+21C>T http://identifiers.org/clinvar/127114 ^@ NM_001011658.3(TRAPPC2):c.239-11_239-9delAAT http://identifiers.org/clinvar/127194 ^@ NM_021120.3(DLG3):c.985+1G>C http://identifiers.org/clinvar/127280 ^@ NM_000038.5(APC):c.2386T>C (p.Tyr796His) http://identifiers.org/clinvar/127330 ^@ NM_000051.3(ATM):c.1132A>G (p.Ser378Gly) http://identifiers.org/clinvar/127380 ^@ NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) http://identifiers.org/clinvar/127430 ^@ NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) http://identifiers.org/clinvar/127481 ^@ NM_000057.3(BLM):c.2074+5G>A http://identifiers.org/clinvar/127531 ^@ NM_000136.2(FANCC):c.1297C>T (p.Arg433Cys) http://identifiers.org/clinvar/127581 ^@ NM_000179.2(MSH6):c.3191C>T (p.Ala1064Val) http://identifiers.org/clinvar/161056 ^@ GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 http://identifiers.org/clinvar/161857 ^@ NM_201649.3(SLC6A9):c.796G>A (p.Glu266Lys) http://identifiers.org/clinvar/161707 ^@ NM_017632.3(CDKN2AIP):c.914T>G (p.Leu305Arg) http://identifiers.org/clinvar/161657 ^@ NM_007149.2(ZNF184):c.113C>A (p.Thr38Asn) http://identifiers.org/clinvar/161607 ^@ NM_003165.3(STXBP1):c.587A>G (p.Lys196Arg) http://identifiers.org/clinvar/161557 ^@ NM_001184789.1(PARD3):c.684G>A (p.Met228Ile) http://identifiers.org/clinvar/161757 ^@ NM_022163.3(MRPL46):c.289C>T (p.Arg97Ter) http://identifiers.org/clinvar/161457 ^@ NM_000088.3(COL1A1):c.3277C>T (p.Arg1093Cys) http://identifiers.org/clinvar/161807 ^@ NM_144685.4(HIPK4):c.1279G>A (p.Asp427Asn) http://identifiers.org/clinvar/162036 ^@ NM_000663.4(ABAT):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/162092 ^@ NM_183357.2(ADCY5):c.3086T>A (p.Met1029Lys) http://identifiers.org/clinvar/162156 ^@ NM_001396.4(DYRK1A):c.945dupG (p.Gln316Alafs) http://identifiers.org/clinvar/162219 ^@ NM_198271.4(LMOD3):c.1069G>T (p.Glu357Ter) http://identifiers.org/clinvar/162430 ^@ NM_000230.2(LEP):c.298G>T (p.Asp100Tyr) http://identifiers.org/clinvar/162501 ^@ NM_000335.4(SCN5A):c.612-2A>G http://identifiers.org/clinvar/162581 ^@ NM_000426.3(LAMA2):c.8690G>A (p.Arg2897Gln) http://identifiers.org/clinvar/166414 ^@ NM_206933.2(USH2A):c.15374G>A (p.Arg5125His) http://identifiers.org/clinvar/180115 ^@ NM_005572.3(LMNA):c.686T>C (p.Ile229Thr) http://identifiers.org/clinvar/178825 ^@ NM_001103.3(ACTN2):c.1485G>A (p.Thr495=) http://identifiers.org/clinvar/178876 ^@ NM_001035.2(RYR2):c.147G>C (p.Leu49Phe) http://identifiers.org/clinvar/163411 ^@ NM_031475.2(ESPN):c.1016G>A (p.Arg339Gln) http://identifiers.org/clinvar/178607 ^@ NM_031475.2(ESPN):c.1069C>T (p.Pro357Ser) http://identifiers.org/clinvar/166035 ^@ NM_133378.4(TTN):c.38907G>T (p.Gln12969His) http://identifiers.org/clinvar/166527 ^@ NM_206933.2(USH2A):c.1581C>T (p.Cys527=) http://identifiers.org/clinvar/165871 ^@ NM_133378.4(TTN):c.60675T>C (p.Ala20225=) http://identifiers.org/clinvar/178657 ^@ NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?)) http://identifiers.org/clinvar/180065 ^@ NM_133378.4(TTN):c.97827G>A (p.Val32609=) http://identifiers.org/clinvar/165716 ^@ NM_001256850.1(TTN):c.89825G>A (p.Arg29942His) http://identifiers.org/clinvar/180015 ^@ NM_133378.4(TTN):c.15583G>A (p.Val5195Met) http://identifiers.org/clinvar/166211 ^@ NM_133378.4(TTN):c.12842G>C (p.Ser4281Thr) http://identifiers.org/clinvar/166269 ^@ NM_133379.4(TTN):c.12716C>T (p.Ala4239Val) http://identifiers.org/clinvar/178507 ^@ NM_194248.2(OTOF):c.3706C>G (p.Arg1236Gly) http://identifiers.org/clinvar/166319 ^@ NM_133378.4(TTN):c.4452T>C (p.Pro1484=) http://identifiers.org/clinvar/163137 ^@ NM_001369.2(DNAH5):c.10140A>G (p.Glu3380=) http://identifiers.org/clinvar/165963 ^@ NM_133378.4(TTN):c.48176A>C (p.Lys16059Thr) http://identifiers.org/clinvar/165459 ^@ NM_147196.2(TMIE):c.174C>T (p.His58=) http://identifiers.org/clinvar/178775 ^@ NM_030917.3(FIP1L1):c.1285+11T>G http://identifiers.org/clinvar/166607 ^@ NM_006005.3(WFS1):c.2406C>T (p.Ile802=) http://identifiers.org/clinvar/165158 ^@ NM_198056.2(SCN5A):c.998+5G>A http://identifiers.org/clinvar/178725 ^@ NM_001277115.1(DNAH11):c.3068T>C (p.Val1023Ala) http://identifiers.org/clinvar/163496 ^@ NM_021167.4(GATAD1):c.176G>C (p.Gly59Ala) http://identifiers.org/clinvar/178407 ^@ NM_001038603.2(MARVELD2):c.500A>G (p.Gln167Arg) http://identifiers.org/clinvar/198413 ^@ NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) http://identifiers.org/clinvar/198463 ^@ NM_001360.2(DHCR7):c.709C>T (p.Leu237=) http://identifiers.org/clinvar/199184 ^@ NM_005135.2(SLC12A6):c.1066G>A (p.Gly356Arg) http://identifiers.org/clinvar/199240 ^@ NM_031935.2(HMCN1):c.15010_15011delACinsTT (p.Thr5004Phe) http://identifiers.org/clinvar/199689 ^@ NM_000090.3(COL3A1):c.114C>G (p.Ser38=) http://identifiers.org/clinvar/199743 ^@ NM_000090.3(COL3A1):c.3329G>A (p.Gly1110Glu) http://identifiers.org/clinvar/199850 ^@ NM_004415.3(DSP):c.440A>T (p.Glu147Val) http://identifiers.org/clinvar/199797 ^@ NM_001943.4(DSG2):c.216+3A>C http://identifiers.org/clinvar/231751 ^@ NM_000038.5(APC):c.4170C>T (p.Val1390=) http://identifiers.org/clinvar/231601 ^@ NM_005732.3(RAD50):c.541_542delTCinsA (p.Ser181Lysfs) http://identifiers.org/clinvar/231501 ^@ NM_005732.3(RAD50):c.545C>A (p.Ala182Glu) http://identifiers.org/clinvar/231801 ^@ NM_000535.6(PMS2):c.690G>A (p.Val230=) http://identifiers.org/clinvar/231001 ^@ NM_002485.4(NBN):c.1979G>A (p.Arg660Lys) http://identifiers.org/clinvar/229912 ^@ NM_000314.6(PTEN):c.112C>A (p.Pro38Thr) http://identifiers.org/clinvar/229962 ^@ NM_000314.6(PTEN):c.458_461delATTT (p.Asp153Alafs) http://identifiers.org/clinvar/232001 ^@ NM_000051.3(ATM):c.2569C>G (p.Leu857Val) http://identifiers.org/clinvar/230062 ^@ NM_000051.3(ATM):c.3332T>C (p.Leu1111Pro) http://identifiers.org/clinvar/229762 ^@ NM_000051.3(ATM):c.9024T>C (p.Arg3008=) http://identifiers.org/clinvar/231551 ^@ NM_000059.3(BRCA2):c.8150C>T (p.Ala2717Val) http://identifiers.org/clinvar/231901 ^@ NM_000059.3(BRCA2):c.9413dupT (p.Leu3138Phefs) http://identifiers.org/clinvar/231651 ^@ NM_004360.4(CDH1):c.1832T>A (p.Val611Asp) http://identifiers.org/clinvar/231701 ^@ NM_004360.4(CDH1):c.2292C>A (p.Asp764Glu) http://identifiers.org/clinvar/229662 ^@ NM_001042492.2(NF1):c.7092G>A (p.Arg2364=) http://identifiers.org/clinvar/231051 ^@ NM_007294.3(BRCA1):c.3167C>T (p.Ser1056Phe) http://identifiers.org/clinvar/231951 ^@ NM_007294.3(BRCA1):c.2680A>T (p.Lys894Ter) http://identifiers.org/clinvar/229712 ^@ NM_032043.2(BRIP1):c.3390_3393delCTAT (p.Tyr1131Leufs) http://identifiers.org/clinvar/231401 ^@ NM_000455.4(STK11):c.1186G>C (p.Glu396Gln) http://identifiers.org/clinvar/234978 ^@ NM_005751.4(AKAP9):c.8189A>G (p.Gln2730Arg) http://identifiers.org/clinvar/235029 ^@ NM_000257.3(MYH7):c.2451C>A (p.Asn817Lys) http://identifiers.org/clinvar/235079 ^@ NM_005270.4(GLI2):c.4761G>C (p.Ter1587Tyr) http://identifiers.org/clinvar/235214 ^@ NM_030957.3(ADAMTS10):c.2157C>G (p.Ala719=) http://identifiers.org/clinvar/235268 ^@ NM_017890.4(VPS13B):c.5162T>C (p.Val1721Ala) http://identifiers.org/clinvar/235322 ^@ NM_012452.2(TNFRSF13B):c.563A>T (p.Lys188Met) http://identifiers.org/clinvar/235375 ^@ NC_012920.1:m.15217G>A http://identifiers.org/clinvar/235428 ^@ NM_147127.4(EVC2):c.1384A>G (p.Thr462Ala) http://identifiers.org/clinvar/235483 ^@ NM_006495.3(EVI2B):c.1019C>G (p.Pro340Arg) http://identifiers.org/clinvar/235536 ^@ NC_012920.1:m.9947G>A http://identifiers.org/clinvar/235587 ^@ NM_173076.2(ABCA12):c.485C>T (p.Ala162Val) http://identifiers.org/clinvar/235637 ^@ NM_014956.4(CEP164):c.3364C>T (p.Arg1122Cys) http://identifiers.org/clinvar/235692 ^@ NM_207037.1(TCF12):c.1035+5G>A http://identifiers.org/clinvar/235754 ^@ NM_139058.2(ARX):c.91A>C (p.Ser31Arg) http://identifiers.org/clinvar/235827 ^@ NM_001258221.1(KCTD1):c.207C>A (p.Asp69Glu) http://identifiers.org/clinvar/235899 ^@ NM_024870.3(PREX2):c.1579C>A (p.Arg527Ser) http://identifiers.org/clinvar/236061 ^@ NM_004004.5(GJB2):c.400T>C (p.Trp134Arg) http://identifiers.org/clinvar/236111 ^@ NM_000350.2(ABCA4):c.4254-1G>C http://identifiers.org/clinvar/236161 ^@ NM_004621.5(TRPC6):c.2410-22T>C http://identifiers.org/clinvar/236229 ^@ NM_016111.3(TELO2):c.1826G>A (p.Arg609His) http://identifiers.org/clinvar/236300 ^@ NM_004992.3(MECP2):c.378-20C>G http://identifiers.org/clinvar/238297 ^@ NM_001103.3(ACTN2):c.1256-8C>T http://identifiers.org/clinvar/238347 ^@ NM_001128425.1(MUTYH):c.505-5C>T http://identifiers.org/clinvar/238197 ^@ NM_000969.3(RPL5):c.258T>C (p.Tyr86=) http://identifiers.org/clinvar/238697 ^@ NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys) http://identifiers.org/clinvar/238847 ^@ NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr) http://identifiers.org/clinvar/238797 ^@ NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) http://identifiers.org/clinvar/238747 ^@ NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser) http://identifiers.org/clinvar/237747 ^@ NM_000384.2(APOB):c.5913G>A (p.Leu1971=) http://identifiers.org/clinvar/237847 ^@ NM_000465.3(BARD1):c.958G>A (p.Gly320Arg) http://identifiers.org/clinvar/241980 ^@ NM_152383.4(DIS3L2):c.410A>G (p.Tyr137Cys) http://identifiers.org/clinvar/239840 ^@ NM_004304.4(ALK):c.4608G>A (p.Glu1536=) http://identifiers.org/clinvar/237145 ^@ NM_000179.2(MSH6):c.2056_2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs) http://identifiers.org/clinvar/237196 ^@ NM_000179.2(MSH6):c.3728C>A (p.Thr1243Lys) http://identifiers.org/clinvar/240991 ^@ NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) http://identifiers.org/clinvar/237346 ^@ NM_000249.3(MLH1):c.7T>C (p.Phe3Leu) http://identifiers.org/clinvar/240090 ^@ NM_005051.2(QARS):c.1453G>C (p.Gly485Arg) http://identifiers.org/clinvar/240341 ^@ NM_006206.4(PDGFRA):c.3039C>T (p.Ser1013=) http://identifiers.org/clinvar/237246 ^@ NM_000222.2(KIT):c.1568C>T (p.Thr523Ile) http://identifiers.org/clinvar/240841 ^@ NM_012073.4(CCT5):c.738G>A (p.Ala246=) http://identifiers.org/clinvar/240241 ^@ NM_005732.3(RAD50):c.371G>C (p.Gly124Ala) http://identifiers.org/clinvar/237296 ^@ NM_000238.3(KCNH2):c.2291C>T (p.Pro764Leu) http://identifiers.org/clinvar/238947 ^@ NM_001277115.1(DNAH11):c.998A>G (p.Gln333Arg) http://identifiers.org/clinvar/238897 ^@ NM_001277115.1(DNAH11):c.13113G>A (p.Pro4371=) http://identifiers.org/clinvar/240941 ^@ NM_014855.2(AP5Z1):c.2400G>A (p.Arg800=) http://identifiers.org/clinvar/237897 ^@ NM_000535.6(PMS2):c.2032A>C (p.Ile678Leu) http://identifiers.org/clinvar/258000 ^@ NM_001369.2(DNAH5):c.13491+37A>G http://identifiers.org/clinvar/260040 ^@ NM_006790.2(MYOT):c.822T>C (p.Ser274=) http://identifiers.org/clinvar/258050 ^@ NM_001369.2(DNAH5):c.6039A>C (p.Arg2013=) http://identifiers.org/clinvar/257550 ^@ NM_001135243.1(TCOF1):c.2659-24_2659-20delCTCTC http://identifiers.org/clinvar/260940 ^@ NM_017838.3(NHP2):c.*11T>A http://identifiers.org/clinvar/263029 ^@ NM_182925.4(FLT4):c.1580A>G (p.Asn527Ser) http://identifiers.org/clinvar/260690 ^@ NM_016180.4(SLC45A2):c.1157-10C>T http://identifiers.org/clinvar/256361 ^@ NM_000521.3(HEXB):c.902-48delT http://identifiers.org/clinvar/256261 ^@ NM_000493.3(COL10A1):c.1809G>C (p.Val603=) http://identifiers.org/clinvar/256061 ^@ NM_000426.3(LAMA2):c.2857-14T>A http://identifiers.org/clinvar/260840 ^@ NM_017651.4(AHI1):c.1780-47C>T http://identifiers.org/clinvar/262179 ^@ NM_033071.3(SYNE1):c.21117C>T (p.Thr7039=) http://identifiers.org/clinvar/261140 ^@ NM_019105.6(TNXB):c.517G>A (p.Ala173Thr) http://identifiers.org/clinvar/260440 ^@ NM_014780.4(CUL7):c.3876C>T (p.Ile1292=) http://identifiers.org/clinvar/259990 ^@ NM_006502.2(POLH):c.626G>T (p.Gly209Val) http://identifiers.org/clinvar/260190 ^@ NM_012120.2(CD2AP):c.4+16G>A http://identifiers.org/clinvar/258350 ^@ NM_001851.4(COL9A1):c.1720-24A>C http://identifiers.org/clinvar/258150 ^@ NM_001458.4(FLNC):c.5766G>A (p.Ala1922=) http://identifiers.org/clinvar/257900 ^@ NM_001277115.1(DNAH11):c.4944+6delA http://identifiers.org/clinvar/257850 ^@ NM_001277115.1(DNAH11):c.11061+10G>A http://identifiers.org/clinvar/263129 ^@ NM_198428.2(BBS9):c.328+22G>A http://identifiers.org/clinvar/255411 ^@ NM_000168.5(GLI3):c.*11A>G http://identifiers.org/clinvar/256161 ^@ NM_000443.3(ABCB4):c.2211+16C>T http://identifiers.org/clinvar/259000 ^@ NM_003235.4(TG):c.7408C>T (p.Leu2470=) http://identifiers.org/clinvar/260890 ^@ NM_017780.3(CHD7):c.1179A>G (p.Pro393=) http://identifiers.org/clinvar/261090 ^@ NM_019098.4(CNGB3):c.702T>G (p.Cys234Trp) http://identifiers.org/clinvar/260140 ^@ NM_007171.3(POMT1):c.1651-47G>T http://identifiers.org/clinvar/255511 ^@ NM_000197.1(HSD17B3):c.865G>A (p.Gly289Ser) http://identifiers.org/clinvar/260990 ^@ NM_018055.4(NODAL):c.531T>C (p.Ala177=) http://identifiers.org/clinvar/260240 ^@ NM_012330.3(KAT6B):c.3717C>G (p.Pro1239=) http://identifiers.org/clinvar/255611 ^@ NM_000235.3(LIPA):c.676-42G>A http://identifiers.org/clinvar/259940 ^@ NM_006204.3(PDE6C):c.1270-7A>G http://identifiers.org/clinvar/260490 ^@ NM_014956.4(CEP164):c.4299G>T (p.Ser1433=) http://identifiers.org/clinvar/262679 ^@ NM_152722.4(HEPACAM):c.427+39G>A http://identifiers.org/clinvar/260790 ^@ NM_016952.4(CDON):c.2996-48G>T http://identifiers.org/clinvar/256311 ^@ NM_000506.4(F2):c.*98+194G>A http://identifiers.org/clinvar/257500 ^@ NM_001122955.3(BSCL2):c.766-49T>C http://identifiers.org/clinvar/262579 ^@ NM_145200.3(CABP4):c.541+7_541+8delCAinsGC http://identifiers.org/clinvar/255661 ^@ NM_000260.3(MYO7A):c.1936-23G>A http://identifiers.org/clinvar/257400 ^@ NM_001082538.2(TCTN1):c.298G>A (p.Val100Met) http://identifiers.org/clinvar/258200 ^@ NM_001843.3(CNTN1):c.400+13T>C http://identifiers.org/clinvar/255761 ^@ NM_000289.5(PFKM):c.306C>T (p.Ala102=) http://identifiers.org/clinvar/258550 ^@ NM_002076.3(GNS):c.1598G>A (p.Arg533His) http://identifiers.org/clinvar/258250 ^@ NM_001845.5(COL4A1):c.3183G>A (p.Gly1061=) http://identifiers.org/clinvar/260390 ^@ NM_014363.5(SACS):c.10972C>T (p.Arg3658Trp) http://identifiers.org/clinvar/260290 ^@ NM_013382.5(POMT2):c.1184-47A>C http://identifiers.org/clinvar/332935 ^@ NM_133378.4(TTN):c.11056C>G (p.Pro3686Ala) http://identifiers.org/clinvar/335876 ^@ NM_014946.3(SPAST):c.*2164_*2165insGAG http://identifiers.org/clinvar/332885 ^@ NM_133378.4(TTN):c.30283G>A (p.Val10095Ile) http://identifiers.org/clinvar/333185 ^@ NM_000534.4(PMS1):c.-343G>A http://identifiers.org/clinvar/333285 ^@ NM_007315.3(STAT1):c.796G>A (p.Val266Ile) http://identifiers.org/clinvar/333335 ^@ NM_001006657.1(WDR35):c.*2463C>T http://identifiers.org/clinvar/333085 ^@ NM_000090.3(COL3A1):c.*622T>C http://identifiers.org/clinvar/333485 ^@ NM_032977.3(CASP10):c.*2927_*2928delTT http://identifiers.org/clinvar/336276 ^@ NM_001430.4(EPAS1):c.2365A>G (p.Ile789Val) http://identifiers.org/clinvar/335576 ^@ NM_001029883.2(C2orf71):c.*2670T>C http://identifiers.org/clinvar/333635 ^@ NM_001204.6(BMPR2):c.-212dupC http://identifiers.org/clinvar/333685 ^@ NM_001204.6(BMPR2):c.*2939A>G http://identifiers.org/clinvar/335776 ^@ NM_000379.3(XDH):c.1990G>A (p.Val664Ile) http://identifiers.org/clinvar/333935 ^@ NM_015040.3(PIKFYVE):c.5573G>A (p.Arg1858Gln) http://identifiers.org/clinvar/333585 ^@ NM_020919.3(ALS2):c.4416G>A (p.Thr1472=) http://identifiers.org/clinvar/336076 ^@ NM_022437.2(ABCG8):c.1170G>A (p.Thr390=) http://identifiers.org/clinvar/336126 ^@ NM_133259.3(LRPPRC):c.*1343G>C http://identifiers.org/clinvar/336176 ^@ NM_133259.3(LRPPRC):c.96C>T (p.Gly32=) http://identifiers.org/clinvar/334086 ^@ NM_000384.2(APOB):c.11942C>T (p.Pro3981Leu) http://identifiers.org/clinvar/333785 ^@ NM_005006.6(NDUFS1):c.396C>A (p.Asp132Glu) http://identifiers.org/clinvar/334136 ^@ NM_000384.2(APOB):c.5490C>G (p.Ala1830=) http://identifiers.org/clinvar/333985 ^@ NM_001608.3(ACADL):c.*928A>G http://identifiers.org/clinvar/336326 ^@ NM_139279.5(MCFD2):c.*3318T>C http://identifiers.org/clinvar/334637 ^@ NM_000092.4(COL4A4):c.*4602C>G http://identifiers.org/clinvar/342523 ^@ NM_198196.2(CD96):c.424G>C (p.Ala142Pro) http://identifiers.org/clinvar/342573 ^@ NM_198196.2(CD96):c.*1539G>T http://identifiers.org/clinvar/342723 ^@ NM_020754.3(ARHGAP31):c.*2744A>G http://identifiers.org/clinvar/342373 ^@ NM_033084.4(FANCD2):c.3105+15C>T http://identifiers.org/clinvar/342273 ^@ NM_016247.3(IMPG2):c.*4108G>C http://identifiers.org/clinvar/342423 ^@ NM_000551.3(VHL):c.*989C>T http://identifiers.org/clinvar/335726 ^@ NM_004304.4(ALK):c.-313C>G http://identifiers.org/clinvar/342873 ^@ NM_053025.3(MYLK):c.4302A>G (p.Glu1434=) http://identifiers.org/clinvar/342923 ^@ NM_015869.4(PPARG):c.481-3C>T http://identifiers.org/clinvar/335826 ^@ NM_014946.3(SPAST):c.-41C>T http://identifiers.org/clinvar/335626 ^@ NM_001029883.2(C2orf71):c.*508A>G http://identifiers.org/clinvar/335676 ^@ NM_004304.4(ALK):c.*415G>A http://identifiers.org/clinvar/357418 ^@ NM_138694.3(PKHD1):c.9402G>A (p.Lys3134=) http://identifiers.org/clinvar/357468 ^@ NM_052872.3(IL17F):c.463G>A (p.Val155Ile) http://identifiers.org/clinvar/357518 ^@ NM_018100.3(EFHC1):c.*1813dupA http://identifiers.org/clinvar/354778 ^@ NM_001242957.2(MAK):c.*331_*332dupTA http://identifiers.org/clinvar/357718 ^@ NM_001142800.1(EYS):c.3352A>G (p.Ile1118Val) http://identifiers.org/clinvar/357818 ^@ NM_001851.4(COL9A1):c.-79G>T http://identifiers.org/clinvar/357868 ^@ NM_014989.5(RIMS1):c.*138G>T http://identifiers.org/clinvar/350902 ^@ NM_001369.2(DNAH5):c.*1613G>A http://identifiers.org/clinvar/357968 ^@ NM_004415.3(DSP):c.*39T>C http://identifiers.org/clinvar/358018 ^@ NM_004999.3(MYO6):c.*1607C>T http://identifiers.org/clinvar/354978 ^@ NM_014028.3(OSTM1):c.*212A>G http://identifiers.org/clinvar/355028 ^@ NM_014845.5(FIG4):c.-124A>G http://identifiers.org/clinvar/351002 ^@ NM_017415.2(KLHL3):c.-344G>T http://identifiers.org/clinvar/358268 ^@ NM_014165.3(NDUFAF4):c.*301T>A http://identifiers.org/clinvar/355129 ^@ NM_001010892.2(RSPH4A):c.*277A>G http://identifiers.org/clinvar/358518 ^@ NM_000441.1(SLC26A4):c.*1200G>A http://identifiers.org/clinvar/355429 ^@ NM_006208.2(ENPP1):c.*4248G>A http://identifiers.org/clinvar/351402 ^@ NM_054027.4(ANKH):c.*5662C>T http://identifiers.org/clinvar/351602 ^@ NM_024577.3(SH3TC2):c.*19270G>A http://identifiers.org/clinvar/355879 ^@ NM_033071.3(SYNE1):c.12402G>A (p.Ser4134=) http://identifiers.org/clinvar/359257 ^@ NM_014141.5(CNTNAP2):c.*3836C>T http://identifiers.org/clinvar/359657 ^@ NM_001277115.1(DNAH11):c.8521A>G (p.Ser2841Gly) http://identifiers.org/clinvar/352239 ^@ NM_001135243.1(TCOF1):c.*23-10C>T http://identifiers.org/clinvar/352289 ^@ NM_000405.4(GM2A):c.*1994A>G http://identifiers.org/clinvar/356768 ^@ NM_000322.4(PRPH2):c.*351G>A http://identifiers.org/clinvar/352589 ^@ NM_000806.5(GABRA1):c.-247-5T>C http://identifiers.org/clinvar/352639 ^@ NM_000816.3(GABRG2):c.135C>T (p.Asp45=) http://identifiers.org/clinvar/352789 ^@ NM_001017995.2(SH3PXD2B):c.*642C>T http://identifiers.org/clinvar/352839 ^@ NM_002449.4(MSX2):c.*46G>T http://identifiers.org/clinvar/352889 ^@ NM_022455.4(NSD1):c.5007C>T (p.His1669=) http://identifiers.org/clinvar/357218 ^@ NM_012120.2(CD2AP):c.*1466delA http://identifiers.org/clinvar/353089 ^@ NM_014244.4(ADAMTS2):c.3351C>T (p.Asp1117=) http://identifiers.org/clinvar/353139 ^@ NM_014244.4(ADAMTS2):c.669G>T (p.Gly223=) http://identifiers.org/clinvar/357668 ^@ NM_000129.3(F13A1):c.2067C>T (p.Thr689=) http://identifiers.org/clinvar/357768 ^@ NM_018368.3(LMBRD1):c.1347A>G (p.Ile449Met) http://identifiers.org/clinvar/353289 ^@ NM_002185.3(IL7R):c.*1253G>T http://identifiers.org/clinvar/353739 ^@ NM_002203.3(ITGA2):c.636G>T (p.Gly212=) http://identifiers.org/clinvar/358118 ^@ NM_181714.3(LCA5):c.-579C>G http://identifiers.org/clinvar/363816 ^@ NM_000318.2(PEX2):c.769A>G (p.Ile257Val) http://identifiers.org/clinvar/363766 ^@ NM_018972.2(GDAP1):c.*2741_*2742dupAA http://identifiers.org/clinvar/363866 ^@ NM_019098.4(CNGB3):c.2420C>G (p.Ala807Gly) http://identifiers.org/clinvar/363966 ^@ NM_018444.3(PDP1):c.*1612G>A http://identifiers.org/clinvar/364366 ^@ NM_005502.3(ABCA1):c.*417A>G http://identifiers.org/clinvar/364316 ^@ NM_000035.3(ALDOB):c.243C>T (p.His81=) http://identifiers.org/clinvar/307302 ^@ NM_000192.3(TBX5):c.*4G>T http://identifiers.org/clinvar/307552 ^@ NM_024809.4(TCTN2):c.677G>A (p.Arg226His) http://identifiers.org/clinvar/307652 ^@ NM_004064.4(CDKN1B):c.-336A>G http://identifiers.org/clinvar/307752 ^@ NM_000834.3(GRIN2B):c.732C>G (p.Ala244=) http://identifiers.org/clinvar/308002 ^@ NM_021957.3(GYS2):c.756T>C (p.Ala252=) http://identifiers.org/clinvar/365205 ^@ NM_014908.3(DOLK):c.-386C>A http://identifiers.org/clinvar/308452 ^@ NM_001040436.2(YARS2):c.1241G>A (p.Arg414His) http://identifiers.org/clinvar/308502 ^@ NM_004572.3(PKP2):c.*48dupA http://identifiers.org/clinvar/365405 ^@ NM_000368.4(TSC1):c.*3997G>A http://identifiers.org/clinvar/308602 ^@ NM_017641.3(KIF21A):c.-245C>T http://identifiers.org/clinvar/365605 ^@ NM_014694.3(ADAMTSL2):c.2436C>T (p.Arg812=) http://identifiers.org/clinvar/365655 ^@ NM_000787.3(DBH):c.1025-6T>A http://identifiers.org/clinvar/301608 ^@ NM_014391.2(ANKRD1):c.55G>C (p.Glu19Gln) http://identifiers.org/clinvar/365805 ^@ NM_014564.4(LHX3):c.*554C>T http://identifiers.org/clinvar/301758 ^@ NM_002860.3(ALDH18A1):c.2110+13A>G http://identifiers.org/clinvar/365906 ^@ NM_006412.3(AGPAT2):c.*354C>T http://identifiers.org/clinvar/301858 ^@ NM_001002261.3(ZFYVE27):c.*1229dupG http://identifiers.org/clinvar/298309 ^@ NM_000195.4(HPS1):c.*1215_*1217delCCTinsTCC http://identifiers.org/clinvar/309241 ^@ NM_000486.5(AQP2):c.*374C>T http://identifiers.org/clinvar/309391 ^@ NM_014191.3(SCN8A):c.*1742T>G http://identifiers.org/clinvar/309491 ^@ NM_002282.3(KRT83):c.*107T>G http://identifiers.org/clinvar/365755 ^@ NM_000093.4(COL5A1):c.*629A>G http://identifiers.org/clinvar/366156 ^@ NM_144966.5(FREM1):c.1791T>C (p.Tyr597=) http://identifiers.org/clinvar/302108 ^@ NM_001080463.1(DYNC2H1):c.11259C>T (p.Ser3753=) http://identifiers.org/clinvar/309691 ^@ NM_002272.3(KRT4):c.548A>G (p.Asn183Ser) http://identifiers.org/clinvar/366256 ^@ NM_002451.3(MTAP):c.*258A>C http://identifiers.org/clinvar/302158 ^@ NM_001025389.1(AMPD3):c.553C>T (p.Arg185Trp) http://identifiers.org/clinvar/366306 ^@ NM_002451.3(MTAP):c.*3072G>A http://identifiers.org/clinvar/366356 ^@ NM_003383.4(VLDLR):c.-30_-19delGGCGGCGGCGGC http://identifiers.org/clinvar/302258 ^@ NM_000051.3(ATM):c.*236C>T http://identifiers.org/clinvar/365956 ^@ NM_016219.4(MAN1B1):c.780A>G (p.Ala260=) http://identifiers.org/clinvar/310041 ^@ NM_000552.4(VWF):c.7362C>T (p.Thr2454=) http://identifiers.org/clinvar/302458 ^@ NM_001931.4(DLAT):c.991C>G (p.Pro331Ala) http://identifiers.org/clinvar/310191 ^@ NM_002076.3(GNS):c.*734A>G http://identifiers.org/clinvar/310491 ^@ NM_024685.3(BBS10):c.1472C>A (p.Ser491Tyr) http://identifiers.org/clinvar/302808 ^@ NM_005188.3(CBL):c.*1686A>C http://identifiers.org/clinvar/366406 ^@ NM_133497.3(KCNV2):c.-15C>T http://identifiers.org/clinvar/310946 ^@ NM_000123.3(ERCC5):c.*89G>A http://identifiers.org/clinvar/340433 ^@ NM_006657.2(FTCD):c.600G>A (p.Ala200=) http://identifiers.org/clinvar/314295 ^@ NM_000428.2(LTBP2):c.2788+14G>A http://identifiers.org/clinvar/340483 ^@ NM_006031.5(PCNT):c.3464G>A (p.Arg1155Lys) http://identifiers.org/clinvar/314345 ^@ NM_001040108.1(MLH3):c.*3148A>G http://identifiers.org/clinvar/314395 ^@ NM_001040108.1(MLH3):c.-27G>A http://identifiers.org/clinvar/314445 ^@ NM_003239.4(TGFB3):c.*185C>T http://identifiers.org/clinvar/322259 ^@ NM_000430.3(PAFAH1B1):c.-84A>T http://identifiers.org/clinvar/322359 ^@ NM_080669.5(SLC46A1):c.*3203A>G http://identifiers.org/clinvar/340934 ^@ NM_016327.2(UPB1):c.514G>A (p.Glu172Lys) http://identifiers.org/clinvar/322609 ^@ NM_000267.3(NF1):c.*3514G>C http://identifiers.org/clinvar/314984 ^@ NM_004239.4(TRIP11):c.-61C>T http://identifiers.org/clinvar/322759 ^@ NM_145068.3(TRPV3):c.1882G>A (p.Ala628Thr) http://identifiers.org/clinvar/322659 ^@ NM_000286.2(PEX12):c.-147C>T http://identifiers.org/clinvar/322809 ^@ NM_145068.3(TRPV3):c.-234C>T http://identifiers.org/clinvar/322909 ^@ NM_004937.2(CTNS):c.*2119G>T http://identifiers.org/clinvar/322959 ^@ NM_001004334.3(GPR179):c.*454G>A http://identifiers.org/clinvar/315384 ^@ NM_144599.4(NIPA1):c.*2106T>C http://identifiers.org/clinvar/341773 ^@ NM_001429.3(EP300):c.102C>G (p.Gly34=) http://identifiers.org/clinvar/315434 ^@ NM_022807.4(SNRPN):c.-584A>G http://identifiers.org/clinvar/341923 ^@ NM_025225.2(PNPLA3):c.-111G>A http://identifiers.org/clinvar/341973 ^@ NM_006953.3(UPK3A):c.332G>A (p.Ser111Asn) http://identifiers.org/clinvar/315584 ^@ NM_133647.1(SLC12A6):c.*1627T>C http://identifiers.org/clinvar/342073 ^@ NM_015166.3(MLC1):c.*2049G>A http://identifiers.org/clinvar/342123 ^@ NM_005138.2(SCO2):c.738G>C (p.Ser246=) http://identifiers.org/clinvar/342173 ^@ NM_005198.4(CHKB):c.708C>T (p.Val236=) http://identifiers.org/clinvar/342223 ^@ NM_000487.5(ARSA):c.*635G>A http://identifiers.org/clinvar/315834 ^@ NM_002225.3(IVD):c.*2844T>C http://identifiers.org/clinvar/314145 ^@ NM_031427.3(DNAL1):c.*7212C>G http://identifiers.org/clinvar/367974 ^@ NM_001011658.3(TRAPPC2):c.*1050C>T http://identifiers.org/clinvar/368024 ^@ NM_001018113.2(FANCB):c.1494G>T (p.Lys498Asn) http://identifiers.org/clinvar/316084 ^@ NM_025137.3(SPG11):c.6130C>A (p.Leu2044Ile) http://identifiers.org/clinvar/368124 ^@ NM_000132.3(F8):c.1086G>A (p.Ala362=) http://identifiers.org/clinvar/368174 ^@ NM_000444.5(PHEX):c.*227C>G http://identifiers.org/clinvar/316284 ^@ NM_000338.2(SLC12A1):c.*101C>A http://identifiers.org/clinvar/368274 ^@ NM_022567.2(NYX):c.*72T>C http://identifiers.org/clinvar/316334 ^@ NM_000138.4(FBN1):c.*1398G>C http://identifiers.org/clinvar/316384 ^@ NM_000138.4(FBN1):c.1602T>C (p.Cys534=) http://identifiers.org/clinvar/368474 ^@ NM_000084.4(CLCN5):c.426G>A (p.Met142Ile) http://identifiers.org/clinvar/368574 ^@ NM_006306.3(SMC1A):c.*2225G>A http://identifiers.org/clinvar/315034 ^@ NM_000295.4(SERPINA1):c.-10T>C http://identifiers.org/clinvar/315084 ^@ NM_177438.2(DICER1):c.*1032A>G http://identifiers.org/clinvar/315334 ^@ NM_144599.4(NIPA1):c.*5395_*5396delAT http://identifiers.org/clinvar/325517 ^@ NM_004870.3(MPDU1):c.450C>T (p.Pro150=) http://identifiers.org/clinvar/315134 ^@ NM_139057.3(ADAMTS17):c.*2598T>C http://identifiers.org/clinvar/315684 ^@ NM_005159.4(ACTC1):c.*679C>G http://identifiers.org/clinvar/315234 ^@ NM_139057.3(ADAMTS17):c.*399_*412dupAAAGGCTTTATTCT http://identifiers.org/clinvar/317824 ^@ NM_005236.2(ERCC4):c.2519A>C (p.Glu840Ala) http://identifiers.org/clinvar/315984 ^@ NM_173500.3(TTBK2):c.2418A>G (p.Pro806=) http://identifiers.org/clinvar/317874 ^@ NM_005236.2(ERCC4):c.*3542T>C http://identifiers.org/clinvar/325667 ^@ NM_138793.3(CANT1):c.*1479C>A http://identifiers.org/clinvar/316184 ^@ NM_014080.4(DUOX2):c.533G>T (p.Trp178Leu) http://identifiers.org/clinvar/316234 ^@ NM_012388.3(BLOC1S6):c.*865G>A http://identifiers.org/clinvar/318024 ^@ NM_001143979.1(NDE1):c.-535C>A http://identifiers.org/clinvar/318176 ^@ NM_002474.2(MYH11):c.540T>C (p.Ser180=) http://identifiers.org/clinvar/371929 ^@ NM_001127510.2(APC):c.4850_4855delTTCTAC (p.Leu1617_Leu1618del) http://identifiers.org/clinvar/371829 ^@ NM_004168.3(SDHA):c.1064+5G>A http://identifiers.org/clinvar/371979 ^@ NM_006231.3(POLE):c.4111C>T (p.Arg1371Ter) http://identifiers.org/clinvar/371879 ^@ NM_007294.3(BRCA1):c.4146C>A (p.Cys1382Ter) http://identifiers.org/clinvar/374479 ^@ NM_138694.3(PKHD1):c.1342G>C (p.Gly448Arg) http://identifiers.org/clinvar/374529 ^@ NM_000350.2(ABCA4):c.2096C>A (p.Thr699Asn) http://identifiers.org/clinvar/374579 ^@ NM_001040142.1(SCN2A):c.1755G>C (p.Lys585Asn) http://identifiers.org/clinvar/374629 ^@ NM_018249.5(CDK5RAP2):c.2571A>G (p.Leu857=) http://identifiers.org/clinvar/374679 ^@ NM_001018008.1(TPM1):c.26C>T (p.Ala9Val) http://identifiers.org/clinvar/374729 ^@ NM_005051.2(QARS):c.1570C>T (p.Arg524Trp) http://identifiers.org/clinvar/374779 ^@ NM_001197104.1(KMT2A):c.10901-5A>G http://identifiers.org/clinvar/374839 ^@ NM_000459.4(TEK):c.448G>T (p.Glu150Ter) http://identifiers.org/clinvar/374889 ^@ NM_022089.3(ATP13A2):c.364C>T (p.Gln122Ter) http://identifiers.org/clinvar/374956 ^@ NM_000527.4(LDLR):c.2546C>T (p.Ser849Leu) http://identifiers.org/clinvar/375226 ^@ NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del http://identifiers.org/clinvar/375287 ^@ NM_005215.3(DCC):c.2677G>A (p.Ala893Thr) http://identifiers.org/clinvar/375341 ^@ NM_182476.2(COQ6):c.564G>A (p.Trp188Ter) http://identifiers.org/clinvar/375393 ^@ NM_022095.3(ZNF335):c.2744_2747delGTGA (p.Ser915Thrfs) http://identifiers.org/clinvar/375448 ^@ NM_007294.3(BRCA1):c.5000A>G (p.Lys1667Arg) http://identifiers.org/clinvar/375516 ^@ NM_001165963.1(SCN1A):c.3690dupT (p.Ser1231Terfs) http://identifiers.org/clinvar/375574 ^@ NM_003482.3(KMT2D):c.466G>T (p.Glu156Ter) http://identifiers.org/clinvar/375633 ^@ NM_015559.2(SETBP1):c.2016_2017insT (p.Lys673Terfs) http://identifiers.org/clinvar/375696 ^@ NM_032387.4(WNK4):c.1679A>G (p.Glu560Gly) http://identifiers.org/clinvar/375778 ^@ NM_000527.4(LDLR):c.211G>A (p.Gly71Arg) http://identifiers.org/clinvar/375828 ^@ NM_000527.4(LDLR):c.1988-2A>G http://identifiers.org/clinvar/375881 ^@ NM_153759.3(DNMT3A):c.2078G>A (p.Arg693His) http://identifiers.org/clinvar/375931 ^@ NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) http://identifiers.org/clinvar/387764 ^@ NM_033109.4(PNPT1):c.977-4A>G http://identifiers.org/clinvar/384185 ^@ NM_000251.2(MSH2):c.366+14T>C http://identifiers.org/clinvar/388064 ^@ NM_000179.2(MSH6):c.3801+15T>C http://identifiers.org/clinvar/392463 ^@ NM_003042.3(SLC6A1):c.625C>A (p.Gln209Lys) http://identifiers.org/clinvar/388264 ^@ NM_007208.3(MRPL3):c.277+18G>A http://identifiers.org/clinvar/392413 ^@ NM_015929.3(LIPT1):c.508G>A (p.Gly170Ser) http://identifiers.org/clinvar/391813 ^@ NM_002880.3(RAF1):c.1871C>G (p.Ser624Cys) http://identifiers.org/clinvar/391663 ^@ NM_014049.4(ACAD9):c.454-20T>C http://identifiers.org/clinvar/383033 ^@ NM_000532.4(PCCB):c.546G>A (p.Arg182=) http://identifiers.org/clinvar/383835 ^@ NM_003722.4(TP63):c.517G>C (p.Gly173Arg) http://identifiers.org/clinvar/377888 ^@ NM_001457.3(FLNB):c.4233C>G (p.Phe1411Leu) http://identifiers.org/clinvar/380138 ^@ NM_000251.2(MSH2):c.1662-14A>G http://identifiers.org/clinvar/383384 ^@ NM_000249.3(MLH1):c.723A>G (p.Lys241=) http://identifiers.org/clinvar/377488 ^@ NM_000038.5(APC):c.-16C>T http://identifiers.org/clinvar/382181 ^@ NM_000038.5(APC):c.6246T>C (p.Asp2082=) http://identifiers.org/clinvar/382633 ^@ NM_004637.5(RAB7A):c.-8-12T>C http://identifiers.org/clinvar/379537 ^@ NM_014382.3(ATP2C1):c.2197C>T (p.Gln733Ter) http://identifiers.org/clinvar/382532 ^@ NM_001999.3(FBN2):c.7472-17A>G http://identifiers.org/clinvar/388364 ^@ NM_021911.2(GABRB2):c.984C>T (p.Tyr328=) http://identifiers.org/clinvar/382933 ^@ NM_000816.3(GABRG2):c.1014T>C (p.Phe338=) http://identifiers.org/clinvar/378140 ^@ NM_000249.3(MLH1):c.453+20G>T http://identifiers.org/clinvar/380338 ^@ NM_002185.3(IL7R):c.714G>A (p.Met238Ile) http://identifiers.org/clinvar/386175 ^@ NM_021911.2(GABRB2):c.1383G>A (p.Ala461=) http://identifiers.org/clinvar/386575 ^@ NM_018341.2(ERMARD):c.858-11C>T http://identifiers.org/clinvar/378546 ^@ NM_198056.2(SCN5A):c.3912G>A (p.Thr1304=) http://identifiers.org/clinvar/391713 ^@ NM_001723.5(DST):c.7543C>T (p.Gln2515Ter) http://identifiers.org/clinvar/391563 ^@ NM_001491.2(GCNT2):c.1012G>A (p.Gly338Ser) http://identifiers.org/clinvar/383484 ^@ NM_020320.4(RARS2):c.9C>T (p.Cys3=) http://identifiers.org/clinvar/380790 ^@ NM_018341.2(ERMARD):c.1739+18T>C http://identifiers.org/clinvar/392213 ^@ NM_004333.4(BRAF):c.1314+17T>C http://identifiers.org/clinvar/383284 ^@ NM_018238.3(AGK):c.-14-3T>C http://identifiers.org/clinvar/382382 ^@ NM_018238.3(AGK):c.21G>A (p.Thr7=) http://identifiers.org/clinvar/386375 ^@ NM_001851.4(COL9A1):c.1053G>A (p.Ser351=) http://identifiers.org/clinvar/386075 ^@ NM_012123.3(MTO1):c.210C>T (p.Asp70=) http://identifiers.org/clinvar/383935 ^@ NM_000038.5(APC):c.2130C>T (p.Leu710=) http://identifiers.org/clinvar/388314 ^@ NM_001101.3(ACTB):c.-6-15C>G http://identifiers.org/clinvar/382733 ^@ NM_138361.5(LRSAM1):c.2019A>G (p.Ser673=) http://identifiers.org/clinvar/392013 ^@ NM_004519.3(KCNQ3):c.609C>T (p.Ile203=) http://identifiers.org/clinvar/392513 ^@ NM_002290.4(LAMA4):c.2310A>C (p.Ala770=) http://identifiers.org/clinvar/391513 ^@ NM_017617.4(NOTCH1):c.1680G>A (p.Gly560=) http://identifiers.org/clinvar/380188 ^@ NM_001167734.1(VARS2):c.166C>T (p.His56Tyr) http://identifiers.org/clinvar/388714 ^@ NM_000136.2(FANCC):c.996+12C>A http://identifiers.org/clinvar/379587 ^@ NM_000093.4(COL5A1):c.3054G>A (p.Gly1018=) http://identifiers.org/clinvar/383684 ^@ NM_020822.2(KCNT1):c.1201-16T>C http://identifiers.org/clinvar/391763 ^@ NM_004281.3(BAG3):c.608G>A (p.Arg203Gln) http://identifiers.org/clinvar/134176 ^@ NM_000123.3(ERCC5):c.212G>A (p.Arg71His) http://identifiers.org/clinvar/134226 ^@ NM_004456.4(EZH2):c.965A>G (p.Asn322Ser) http://identifiers.org/clinvar/134277 ^@ NM_000135.2(FANCA):c.308C>T (p.Ser103Leu) http://identifiers.org/clinvar/134327 ^@ NM_033084.4(FANCD2):c.516A>G (p.Ile172Met) http://identifiers.org/clinvar/134378 ^@ NM_025133.4(FBXO11):c.127A>G (p.Thr43Ala) http://identifiers.org/clinvar/134428 ^@ NM_144606.5(FLCN):c.971C>T (p.Ala324Val) http://identifiers.org/clinvar/134478 ^@ NM_001077490.2(GNAS):c.313A>G (p.Thr105Ala) http://identifiers.org/clinvar/134528 ^@ NM_002185.3(IL7R):c.662G>T (p.Ser221Ile) http://identifiers.org/clinvar/134578 ^@ NM_000215.3(JAK3):c.2731C>G (p.Arg911Gly) http://identifiers.org/clinvar/134628 ^@ NM_000222.2(KIT):c.503C>T (p.Ala168Val) http://identifiers.org/clinvar/134680 ^@ NM_003482.3(KMT2D):c.5504G>T (p.Arg1835Leu) http://identifiers.org/clinvar/134731 ^@ NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) http://identifiers.org/clinvar/134832 ^@ NM_005373.2(MPL):c.793C>T (p.Leu265Phe) http://identifiers.org/clinvar/134885 ^@ NM_000267.3(NF1):c.3415G>A (p.Ala1139Thr) http://identifiers.org/clinvar/134935 ^@ NM_017617.4(NOTCH1):c.4168C>A (p.Pro1390Thr) http://identifiers.org/clinvar/134985 ^@ NM_024408.3(NOTCH2):c.6223G>A (p.Val2075Met) http://identifiers.org/clinvar/135035 ^@ NM_003924.3(PHOX2B):c.826G>A (p.Gly276Ser) http://identifiers.org/clinvar/135086 ^@ NM_001198.3(PRDM1):c.1061G>A (p.Ser354Asn) http://identifiers.org/clinvar/135137 ^@ NM_004260.3(RECQL4):c.2385C>G (p.Phe795Leu) http://identifiers.org/clinvar/136319 ^@ NM_018238.3(AGK):c.877+14C>T http://identifiers.org/clinvar/136370 ^@ NM_001182.4(ALDH7A1):c.243A>G (p.Arg81=) http://identifiers.org/clinvar/184460 ^@ NM_001042492.2(NF1):c.7026G>A (p.Leu2342=) http://identifiers.org/clinvar/187763 ^@ NM_007294.3(BRCA1):c.1477delA (p.Ile493Tyrfs) http://identifiers.org/clinvar/184110 ^@ NM_007294.3(BRCA1):c.927A>G (p.Lys309=) http://identifiers.org/clinvar/184310 ^@ NM_032043.2(BRIP1):c.2820G>A (p.Lys940=) http://identifiers.org/clinvar/183859 ^@ NM_005359.5(SMAD4):c.483A>G (p.Glu161=) http://identifiers.org/clinvar/183909 ^@ NM_007194.3(CHEK2):c.474A>C (p.Ala158=) http://identifiers.org/clinvar/183809 ^@ NM_007194.3(CHEK2):c.471T>C (p.Ile157=) http://identifiers.org/clinvar/187822 ^@ NC_000023.10:g.(?_138125974)_(147236414_?)dup http://identifiers.org/clinvar/187894 ^@ NM_005957.4(MTHFR):c.1516T>G (p.Tyr506Asp) http://identifiers.org/clinvar/188044 ^@ NM_000152.4(GAA):c.1437G>A (p.Lys479=) http://identifiers.org/clinvar/188355 ^@ NM_004329.2(BMPR1A):c.1245A>C (p.Glu415Asp) http://identifiers.org/clinvar/188196 ^@ NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) http://identifiers.org/clinvar/188249 ^@ NM_025137.3(SPG11):c.3988C>G (p.Gln1330Glu) http://identifiers.org/clinvar/188302 ^@ NM_000135.2(FANCA):c.283+3A>C http://identifiers.org/clinvar/188095 ^@ NM_000304.3(PMP22):c.308A>G (p.Gln103Arg) http://identifiers.org/clinvar/188146 ^@ NM_017950.3(CCDC40):c.2152C>T (p.Arg718Trp) http://identifiers.org/clinvar/189105 ^@ NM_000182.4(HADHA):c.274_278delTCATC (p.Ser92Lysfs) http://identifiers.org/clinvar/189155 ^@ NM_004004.5(GJB2):c.-23G>T http://identifiers.org/clinvar/189218 ^@ NC_000023.10:g.(154104116_154124111)_(154564398_154628663)dup http://identifiers.org/clinvar/189273 ^@ NM_014795.3(ZEB2):c.1277T>G (p.Leu426Ter) http://identifiers.org/clinvar/189332 ^@ NM_012130.3(CLDN14):c.167G>A (p.Trp56Ter) http://identifiers.org/clinvar/189483 ^@ NM_000314.6(PTEN):c.289C>T (p.Gln97Ter) http://identifiers.org/clinvar/189423 ^@ NM_000314.6(PTEN):c.919G>T (p.Glu307Ter) http://identifiers.org/clinvar/189695 ^@ NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG http://identifiers.org/clinvar/189645 ^@ NM_004992.3(MECP2):c.1096_1201del106 (p.His366Alafs) http://identifiers.org/clinvar/189745 ^@ NM_004992.3(MECP2):c.1065C>A (p.Ser355Arg) http://identifiers.org/clinvar/189545 ^@ NM_003159.2(CDKL5):c.214_216delATT (p.Ile72del) http://identifiers.org/clinvar/189595 ^@ NM_003159.2(CDKL5):c.528G>T (p.Trp176Cys) http://identifiers.org/clinvar/189815 ^@ NC_000017.11:g.(?_68528870)_(68530449_?)del http://identifiers.org/clinvar/190029 ^@ NM_001165963.1(SCN1A):c.3858G>A (p.Trp1286Ter) http://identifiers.org/clinvar/189879 ^@ NM_001165963.1(SCN1A):c.3763G>C (p.Ala1255Pro) http://identifiers.org/clinvar/189929 ^@ NM_001165963.1(SCN1A):c.2303C>T (p.Pro768Leu) http://identifiers.org/clinvar/189979 ^@ NM_001165963.1(SCN1A):c.825_826insGTATA (p.Lys276Valfs) http://identifiers.org/clinvar/190215 ^@ NM_004628.4(XPC):c.2815C>A (p.Gln939Lys) http://identifiers.org/clinvar/190164 ^@ NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) http://identifiers.org/clinvar/242611 ^@ NM_000372.4(TYR):c.139G>A (p.Gly47Ser) http://identifiers.org/clinvar/190277 ^@ ADNP, 4-BP DEL, TTTA http://identifiers.org/clinvar/190348 ^@ NM_002055.4(GFAP):c.799G>C (p.Ala267Pro) http://identifiers.org/clinvar/190409 ^@ NM_000257.3(MYH7):c.5117T>C (p.Leu1706Pro) http://identifiers.org/clinvar/229260 ^@ NM_000441.1(SLC26A4):c.521C>G (p.Thr174Ser) http://identifiers.org/clinvar/226588 ^@ NM_001277115.1(DNAH11):c.6683+13C>G http://identifiers.org/clinvar/226638 ^@ NM_000503.5(EYA1):c.1598-15A>G http://identifiers.org/clinvar/226738 ^@ NM_001018116.2(CAVIN4):c.392G>A (p.Arg131His) http://identifiers.org/clinvar/227290 ^@ NM_015404.3(WHRN):c.1887G>A (p.Pro629=) http://identifiers.org/clinvar/227239 ^@ NM_022124.5(CDH23):c.9511-7T>C http://identifiers.org/clinvar/228860 ^@ NM_002458.2(MUC5B):c.16442C>T (p.Thr5481Met) http://identifiers.org/clinvar/229110 ^@ NM_001277269.1(OTOG):c.974C>T (p.Pro325Leu) http://identifiers.org/clinvar/227770 ^@ NM_001277269.1(OTOG):c.2597+9C>T http://identifiers.org/clinvar/226888 ^@ NM_001277269.1(OTOG):c.3561+10C>A http://identifiers.org/clinvar/227570 ^@ NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=) http://identifiers.org/clinvar/229010 ^@ NM_000260.3(MYO7A):c.6092G>A (p.Arg2031Gln) http://identifiers.org/clinvar/226988 ^@ NM_012226.4(P2RX2):c.558+7C>G http://identifiers.org/clinvar/226938 ^@ NM_173591.3(OTOGL):c.316A>C (p.Met106Leu) http://identifiers.org/clinvar/227820 ^@ NM_173591.3(OTOGL):c.3528C>T (p.Tyr1176=) http://identifiers.org/clinvar/228910 ^@ NM_000257.3(MYH7):c.4076G>A (p.Arg1359His) http://identifiers.org/clinvar/227971 ^@ NM_153700.2(STRC):c.4844+15G>A http://identifiers.org/clinvar/226788 ^@ NM_016239.3(MYO15A):c.4954C>T (p.Leu1652=) http://identifiers.org/clinvar/228960 ^@ NM_016239.3(MYO15A):c.5804G>T (p.Arg1935Leu) http://identifiers.org/clinvar/229610 ^@ NM_173477.4(USH1G):c.809C>A (p.Ala270Asp) http://identifiers.org/clinvar/226488 ^@ NM_017950.3(CCDC40):c.1449C>T (p.Thr483=) http://identifiers.org/clinvar/227340 ^@ NM_001943.4(DSG2):c.221A>G (p.His74Arg) http://identifiers.org/clinvar/226838 ^@ NM_003803.3(MYOM1):c.999G>A (p.Gly333=) http://identifiers.org/clinvar/228810 ^@ NM_001145472.2(LOXHD1):c.1837A>T (p.Met613Leu) http://identifiers.org/clinvar/227089 ^@ NM_001039876.2(SYNE4):c.805C>T (p.Leu269=) http://identifiers.org/clinvar/227620 ^@ NM_002473.5(MYH9):c.888G>A (p.Pro296=) http://identifiers.org/clinvar/229360 ^@ NM_001039141.2(TRIOBP):c.5528C>T (p.Thr1843Met) http://identifiers.org/clinvar/227139 ^@ NM_144991.2(TSPEAR):c.552T>C (p.Asp184=) http://identifiers.org/clinvar/234839 ^@ NM_001999.3(FBN2):c.2029G>A (p.Glu677Lys) http://identifiers.org/clinvar/234738 ^@ NM_000834.3(GRIN2B):c.3056G>T (p.Ser1019Ile) http://identifiers.org/clinvar/234889 ^@ NM_000059.3(BRCA2):c.1730C>T (p.Ala577Val) http://identifiers.org/clinvar/234788 ^@ NM_000059.3(BRCA2):c.2924T>C (p.Ile975Thr) http://identifiers.org/clinvar/229862 ^@ NM_032043.2(BRIP1):c.1952T>C (p.Ile651Thr) http://identifiers.org/clinvar/230012 ^@ NM_000465.3(BARD1):c.2136C>T (p.Asp712=) http://identifiers.org/clinvar/231851 ^@ NM_000249.3(MLH1):c.-210T>G http://identifiers.org/clinvar/231451 ^@ NM_000249.3(MLH1):c.1403A>G (p.Asn468Ser) http://identifiers.org/clinvar/229812 ^@ NM_000249.3(MLH1):c.2173C>G (p.Arg725Gly) http://identifiers.org/clinvar/263535 ^@ NM_006440.4(TXNRD2):c.1523G>A (p.Arg508His) http://identifiers.org/clinvar/263587 ^@ NM_006440.4(TXNRD2):c.957C>G (p.Val319=) http://identifiers.org/clinvar/266655 ^@ NM_000059.3(BRCA2):c.1707_1708delGA (p.Asn570Phefs) http://identifiers.org/clinvar/267267 ^@ NM_003482.3(KMT2D):c.13884delC (p.Thr4629Profs) http://identifiers.org/clinvar/267346 ^@ NM_016035.4(COQ4):c.197_198delGCinsAA (p.Arg66Gln) http://identifiers.org/clinvar/267415 ^@ NM_017780.3(CHD7):c.986A>G (p.Asn329Ser) http://identifiers.org/clinvar/267701 ^@ NM_000059.3(BRCA2):c.8633-?_8754+?del http://identifiers.org/clinvar/267651 ^@ NM_000059.3(BRCA2):c.517-1G>T http://identifiers.org/clinvar/267501 ^@ NM_007294.3(BRCA1):c.135-?_301+?del http://identifiers.org/clinvar/267601 ^@ NM_007294.3(BRCA1):c.5333-36_5406+400del http://identifiers.org/clinvar/267551 ^@ NM_007294.3(BRCA1):c.4485-1G>C http://identifiers.org/clinvar/267780 ^@ NM_006087.3(TUBB4A):c.874C>A (p.Q292K) http://identifiers.org/clinvar/267831 ^@ 46;Y;inv(X)(q27q28) http://identifiers.org/clinvar/267881 ^@ 46;XX;t(1;5)(p23;q15)dn http://identifiers.org/clinvar/267931 ^@ 46;XX;t(12;17)(q13.1;q11.2)dn http://identifiers.org/clinvar/267981 ^@ 46;XY;t(13;14)(q32;q21.2) http://identifiers.org/clinvar/268031 ^@ 46;XY;t(7;12)(q21;q21)dn http://identifiers.org/clinvar/268095 ^@ NM_014009.3(FOXP3):c.398C>T (p.Pro133Leu) http://identifiers.org/clinvar/268149 ^@ NM_001151.3(SLC25A4):c.116_137del22 (p.Gln39Leufs) http://identifiers.org/clinvar/291642 ^@ NM_015074.3(KIF1B):c.*3341C>T http://identifiers.org/clinvar/291692 ^@ NM_013296.4(GPSM2):c.-429C>T http://identifiers.org/clinvar/291742 ^@ NM_007375.3(TARDBP):c.*159A>C http://identifiers.org/clinvar/291842 ^@ NM_003051.3(SLC16A1):c.*815G>A http://identifiers.org/clinvar/291792 ^@ NM_006610.3(MASP2):c.828C>G (p.Ile276Met) http://identifiers.org/clinvar/292292 ^@ NM_000302.3(PLOD1):c.1182G>C (p.Arg394=) http://identifiers.org/clinvar/293431 ^@ NM_004431.4(EPHA2):c.1512G>T (p.Leu504=) http://identifiers.org/clinvar/293331 ^@ NM_003001.3(SDHC):c.*612C>T http://identifiers.org/clinvar/293481 ^@ NM_005149.2(TBX19):c.*21T>A http://identifiers.org/clinvar/293281 ^@ NM_004550.4(NDUFS2):c.1215A>G (p.Gly405=) http://identifiers.org/clinvar/293581 ^@ NM_000130.4(F5):c.5534A>G (p.His1845Arg) http://identifiers.org/clinvar/293781 ^@ NM_022089.3(ATP13A2):c.2381T>C (p.Met794Thr) http://identifiers.org/clinvar/293681 ^@ NM_152281.2(GORAB):c.*1127T>G http://identifiers.org/clinvar/294131 ^@ NM_031935.2(HMCN1):c.3426T>C (p.Thr1142=) http://identifiers.org/clinvar/294081 ^@ NM_000433.3(NCF2):c.1157G>A (p.Arg386Gln) http://identifiers.org/clinvar/293231 ^@ NM_002857.3(PEX19):c.347-7C>T http://identifiers.org/clinvar/294281 ^@ NM_031935.2(HMCN1):c.14927G>A (p.Arg4976Gln) http://identifiers.org/clinvar/293381 ^@ NM_006182.2(DDR2):c.2237G>A (p.Arg746Gln) http://identifiers.org/clinvar/294331 ^@ NM_031935.2(HMCN1):c.*937A>G http://identifiers.org/clinvar/294431 ^@ NM_024529.4(CDC73):c.*1251A>G http://identifiers.org/clinvar/294481 ^@ NM_000186.3(CFH):c.275C>T (p.Pro92Leu) http://identifiers.org/clinvar/294531 ^@ NM_030787.3(CFHR5):c.-20T>C http://identifiers.org/clinvar/293531 ^@ NM_006996.2(SLC19A2):c.212A>G (p.Asn71Ser) http://identifiers.org/clinvar/293631 ^@ NM_000130.4(F5):c.1106C>T (p.Ala369Val) http://identifiers.org/clinvar/293731 ^@ NM_000639.2(FASLG):c.174G>A (p.Pro58=) http://identifiers.org/clinvar/293831 ^@ NM_018122.4(DARS2):c.*168C>T http://identifiers.org/clinvar/293881 ^@ NM_033343.3(LHX4):c.*445G>T http://identifiers.org/clinvar/293981 ^@ NM_005562.2(LAMC2):c.-38C>G http://identifiers.org/clinvar/335926 ^@ NM_000104.3(CYP1B1):c.*1450T>C http://identifiers.org/clinvar/335976 ^@ NM_005633.3(SOS1):c.*3416_*3417delTC http://identifiers.org/clinvar/336376 ^@ NM_139279.5(MCFD2):c.*133A>T http://identifiers.org/clinvar/336026 ^@ NM_022436.2(ABCG5):c.*592G>A http://identifiers.org/clinvar/344512 ^@ NM_015560.2(OPA1):c.*2344A>G http://identifiers.org/clinvar/344612 ^@ NM_000461.4(THRB):c.*1375C>T http://identifiers.org/clinvar/336226 ^@ NM_001430.4(EPAS1):c.-200A>C http://identifiers.org/clinvar/344812 ^@ NM_006371.4(CRTAP):c.930C>T (p.Asp310=) http://identifiers.org/clinvar/344862 ^@ NM_006371.4(CRTAP):c.*3124G>A http://identifiers.org/clinvar/344012 ^@ NM_001041.3(SI):c.4268-14T>C http://identifiers.org/clinvar/344962 ^@ NM_001106.3(ACVR2B):c.*2361dupT http://identifiers.org/clinvar/344362 ^@ NM_005787.5(ALG3):c.41C>T (p.Ala14Val) http://identifiers.org/clinvar/344562 ^@ NM_000461.4(THRB):c.*3929G>A http://identifiers.org/clinvar/345512 ^@ NM_024513.3(FYCO1):c.2179C>A (p.His727Asn) http://identifiers.org/clinvar/344662 ^@ NM_003242.5(TGFBR2):c.1470C>T (p.Asn490=) http://identifiers.org/clinvar/345762 ^@ NM_033629.4(TREX1):c.-510delC http://identifiers.org/clinvar/337393 ^@ NM_004836.6(EIF2AK3):c.*363_*364delCT http://identifiers.org/clinvar/345062 ^@ NM_198056.2(SCN5A):c.*2135C>A http://identifiers.org/clinvar/345112 ^@ NM_198056.2(SCN5A):c.5971C>T (p.Arg1991Trp) http://identifiers.org/clinvar/337543 ^@ NM_014014.4(SNRNP200):c.4080A>T (p.Ala1360=) http://identifiers.org/clinvar/345312 ^@ NM_182760.3(SUMF1):c.*61T>C http://identifiers.org/clinvar/345212 ^@ NM_016006.4(ABHD5):c.-24C>T http://identifiers.org/clinvar/337443 ^@ NM_144563.2(RPIA):c.*807C>G http://identifiers.org/clinvar/337493 ^@ NM_017849.3(TMEM127):c.*760delA http://identifiers.org/clinvar/337643 ^@ NM_001079.3(ZAP70):c.*328C>T http://identifiers.org/clinvar/337593 ^@ NM_020184.3(CNNM4):c.2218A>G (p.Met740Val) http://identifiers.org/clinvar/346501 ^@ NM_000248.3(MITF):c.1248G>A (p.Glu416=) http://identifiers.org/clinvar/342323 ^@ NM_016247.3(IMPG2):c.*388A>G http://identifiers.org/clinvar/345462 ^@ NM_024513.3(FYCO1):c.*2286T>C http://identifiers.org/clinvar/346901 ^@ NM_182896.2(ARL13B):c.-263C>T http://identifiers.org/clinvar/342473 ^@ NM_000551.3(VHL):c.*2543_*2546delTTTG http://identifiers.org/clinvar/342623 ^@ NM_020754.3(ARHGAP31):c.-105C>T http://identifiers.org/clinvar/342673 ^@ NM_020754.3(ARHGAP31):c.3953G>T (p.Gly1318Val) http://identifiers.org/clinvar/347201 ^@ NM_198506.4(LRIT3):c.*232C>G http://identifiers.org/clinvar/342773 ^@ NM_001023570.3(IQCB1):c.1344A>G (p.Gln448=) http://identifiers.org/clinvar/347251 ^@ NM_001963.5(EGF):c.2755G>A (p.Gly919Arg) http://identifiers.org/clinvar/347451 ^@ NM_018699.3(PRDM5):c.342A>C (p.Glu114Asp) http://identifiers.org/clinvar/342823 ^@ NM_053025.3(MYLK):c.*1809A>G http://identifiers.org/clinvar/347601 ^@ NM_172250.2(MMAA):c.630A>G (p.Pro210=) http://identifiers.org/clinvar/342973 ^@ NM_000373.3(UMPS):c.*2356T>C http://identifiers.org/clinvar/343023 ^@ NM_000373.3(UMPS):c.*4215C>T http://identifiers.org/clinvar/346701 ^@ NM_002942.4(ROBO2):c.2726+9C>T http://identifiers.org/clinvar/346851 ^@ NM_033337.2(CAV3):c.*277G>A http://identifiers.org/clinvar/358568 ^@ NM_000108.4(DLD):c.677T>C (p.Val226Ala) http://identifiers.org/clinvar/358618 ^@ NM_014491.3(FOXP2):c.*205_*206insC http://identifiers.org/clinvar/362566 ^@ NM_003018.3(SFTPC):c.*18+13G>A http://identifiers.org/clinvar/362666 ^@ NM_000742.3(CHRNA2):c.*1480C>T http://identifiers.org/clinvar/362816 ^@ NM_000553.4(WRN):c.4180A>G (p.Ile1394Val) http://identifiers.org/clinvar/354678 ^@ NM_005068.2(SIM1):c.1236C>A (p.Thr412=) http://identifiers.org/clinvar/362966 ^@ NM_000037.3(ANK1):c.*1062T>G http://identifiers.org/clinvar/363016 ^@ NM_000037.3(ANK1):c.2370G>T (p.Thr790=) http://identifiers.org/clinvar/354828 ^@ NM_007214.4(SEC63):c.*3210C>T http://identifiers.org/clinvar/359457 ^@ NM_058246.3(DNAJB6):c.*64C>A http://identifiers.org/clinvar/354928 ^@ NM_014028.3(OSTM1):c.*3192A>C http://identifiers.org/clinvar/355078 ^@ NM_000493.3(COL10A1):c.*328dupA http://identifiers.org/clinvar/355179 ^@ NM_000165.4(GJA1):c.*916_*918delATG http://identifiers.org/clinvar/355279 ^@ NM_000426.3(LAMA2):c.5469C>T (p.Ser1823=) http://identifiers.org/clinvar/355329 ^@ NM_006208.2(ENPP1):c.313+41_313+46dupGTGTGT http://identifiers.org/clinvar/363716 ^@ NM_017866.5(TMEM70):c.*963A>G http://identifiers.org/clinvar/355229 ^@ NM_006073.3(TRDN):c.22+8T>C http://identifiers.org/clinvar/363916 ^@ NM_153704.5(TMEM67):c.29C>T (p.Ala10Val) http://identifiers.org/clinvar/355479 ^@ NM_017651.4(AHI1):c.*1646T>C http://identifiers.org/clinvar/364266 ^@ NM_001701.3(BAAT):c.*955A>G http://identifiers.org/clinvar/355729 ^@ NM_203395.2(IYD):c.*2028T>C http://identifiers.org/clinvar/355829 ^@ NM_033071.3(SYNE1):c.21585G>C (p.Leu7195Phe) http://identifiers.org/clinvar/365155 ^@ NM_001130438.2(SPTAN1):c.505-14T>C http://identifiers.org/clinvar/365255 ^@ NM_054012.3(ASS1):c.458G>A (p.Arg153Gln) http://identifiers.org/clinvar/365305 ^@ NM_015046.5(SETX):c.*2262A>G http://identifiers.org/clinvar/356718 ^@ NM_002098.5(GUCA1B):c.*502C>T http://identifiers.org/clinvar/365555 ^@ NM_139025.4(ADAMTS13):c.2708C>T (p.Ser903Leu) http://identifiers.org/clinvar/356818 ^@ NM_014780.4(CUL7):c.4794G>A (p.Lys1598=) http://identifiers.org/clinvar/365705 ^@ NM_000093.4(COL5A1):c.365A>G (p.Glu122Gly) http://identifiers.org/clinvar/365855 ^@ NM_052813.4(CARD9):c.240C>T (p.Leu80=) http://identifiers.org/clinvar/366106 ^@ NM_144966.5(FREM1):c.6086A>G (p.Lys2029Arg) http://identifiers.org/clinvar/303997 ^@ NM_004211.4(SLC6A5):c.96C>T (p.Pro32=) http://identifiers.org/clinvar/298509 ^@ NM_021830.4(TWNK):c.*419A>T http://identifiers.org/clinvar/304097 ^@ NM_213599.2(ANO5):c.138+7A>G http://identifiers.org/clinvar/298609 ^@ NM_016169.3(SUFU):c.*2729T>C http://identifiers.org/clinvar/298809 ^@ NM_001134363.2(RBM20):c.*417G>A http://identifiers.org/clinvar/364166 ^@ NM_004612.3(TGFBR1):c.*3317C>G http://identifiers.org/clinvar/298559 ^@ NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly) http://identifiers.org/clinvar/299059 ^@ NM_002775.4(HTRA1):c.*446G>A http://identifiers.org/clinvar/304597 ^@ NM_207122.1(EXT2):c.*101G>C http://identifiers.org/clinvar/298709 ^@ NM_000494.3(COL17A1):c.2586C>T (p.Pro862=) http://identifiers.org/clinvar/298759 ^@ NM_005445.3(SMC3):c.-99C>A http://identifiers.org/clinvar/304797 ^@ NM_004813.2(PEX16):c.303C>T (p.Ala101=) http://identifiers.org/clinvar/298859 ^@ NM_007373.3(SHOC2):c.-254C>T http://identifiers.org/clinvar/299009 ^@ NM_000141.4(FGFR2):c.204C>T (p.Ala68=) http://identifiers.org/clinvar/313945 ^@ NM_000021.3(PSEN1):c.79C>T (p.Arg27Cys) http://identifiers.org/clinvar/313995 ^@ NM_000021.3(PSEN1):c.*3495A>G http://identifiers.org/clinvar/314095 ^@ NM_031427.3(DNAL1):c.*4726C>T http://identifiers.org/clinvar/305988 ^@ NM_001145308.4(LRTOMT):c.-57G>A http://identifiers.org/clinvar/315484 ^@ NM_002420.5(TRPM1):c.*251A>G http://identifiers.org/clinvar/315734 ^@ NM_152594.2(SPRED1):c.565C>A (p.Gln189Lys) http://identifiers.org/clinvar/315184 ^@ NM_139057.3(ADAMTS17):c.*1449G>A http://identifiers.org/clinvar/309741 ^@ NM_015665.5(AAAS):c.65A>G (p.Asn22Ser) http://identifiers.org/clinvar/309791 ^@ NM_002206.2(ITGA7):c.1559C>G (p.Pro520Arg) http://identifiers.org/clinvar/329357 ^@ NM_000709.3(BCKDHA):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/309891 ^@ NM_005379.3(MYO1A):c.*192C>T http://identifiers.org/clinvar/317924 ^@ NM_001287.5(CLCN7):c.*886C>T http://identifiers.org/clinvar/317974 ^@ NM_014714.3(IFT140):c.*429C>T http://identifiers.org/clinvar/309991 ^@ NM_000785.3(CYP27B1):c.*426_*428dupTAA http://identifiers.org/clinvar/318074 ^@ NM_002474.2(MYH11):c.*641C>A http://identifiers.org/clinvar/310341 ^@ NM_000239.2(LYZ):c.*330C>T http://identifiers.org/clinvar/310541 ^@ NM_018979.3(WNK1):c.295C>T (p.Pro99Ser) http://identifiers.org/clinvar/318776 ^@ NM_173201.3(ATP2A1):c.1560C>T (p.Gly520=) http://identifiers.org/clinvar/337943 ^@ NM_014588.5(VSX1):c.*820T>C http://identifiers.org/clinvar/337993 ^@ NM_001042472.2(ABHD12):c.769C>T (p.Arg257Trp) http://identifiers.org/clinvar/338293 ^@ NM_000178.3(GSS):c.1260C>G (p.Val420=) http://identifiers.org/clinvar/338393 ^@ NM_005461.4(MAFB):c.*929dupA http://identifiers.org/clinvar/319816 ^@ NM_001043.3(SLC6A2):c.*269C>T http://identifiers.org/clinvar/319916 ^@ NM_000339.2(SLC12A3):c.2605A>G (p.Lys869Glu) http://identifiers.org/clinvar/320016 ^@ NM_020312.3(COQ9):c.*492C>T http://identifiers.org/clinvar/320366 ^@ NM_015386.2(COG4):c.2146A>G (p.Ile716Val) http://identifiers.org/clinvar/339183 ^@ NM_017671.4(FERMT1):c.*1375G>A http://identifiers.org/clinvar/320816 ^@ NM_001451.2(FOXF1):c.*632G>A http://identifiers.org/clinvar/339433 ^@ NM_025219.2(DNAJC5):c.*3870G>A http://identifiers.org/clinvar/321116 ^@ NM_020686.5(ABAT):c.*1319C>G http://identifiers.org/clinvar/320866 ^@ NM_001127464.2(ZNF469):c.1529G>C (p.Gly510Ala) http://identifiers.org/clinvar/339783 ^@ NM_000219.5(KCNE1):c.-377+13G>A http://identifiers.org/clinvar/339933 ^@ NM_000411.6(HLCS):c.*1761_*1762delCT http://identifiers.org/clinvar/321466 ^@ NM_000833.4(GRIN2A):c.*8753T>C http://identifiers.org/clinvar/339983 ^@ NM_000411.6(HLCS):c.-466A>G http://identifiers.org/clinvar/321516 ^@ NM_000833.4(GRIN2A):c.*6042A>C http://identifiers.org/clinvar/321570 ^@ NM_000833.4(GRIN2A):c.*2236G>A http://identifiers.org/clinvar/321620 ^@ NM_002472.2(MYH8):c.*72T>C http://identifiers.org/clinvar/314195 ^@ NM_182894.2(VSX2):c.579G>A (p.Gln193=) http://identifiers.org/clinvar/340283 ^@ NM_130445.3(COL18A1):c.*340G>A http://identifiers.org/clinvar/314245 ^@ NM_000428.2(LTBP2):c.*1957A>G http://identifiers.org/clinvar/326768 ^@ NM_015559.2(SETBP1):c.*813C>G http://identifiers.org/clinvar/328457 ^@ NM_173483.3(CYP4F22):c.*430C>G http://identifiers.org/clinvar/328507 ^@ NM_000215.3(JAK3):c.2079C>T (p.Pro693=) http://identifiers.org/clinvar/328557 ^@ NM_000453.2(SLC5A5):c.*276_*277insCTT http://identifiers.org/clinvar/328607 ^@ NM_000095.2(COMP):c.*92G>A http://identifiers.org/clinvar/326918 ^@ NM_017653.3(DYM):c.-294C>T http://identifiers.org/clinvar/328657 ^@ NM_001031726.3(C19orf12):c.*3518C>A http://identifiers.org/clinvar/327068 ^@ NM_001080467.2(MYO5B):c.1215G>A (p.Ala405=) http://identifiers.org/clinvar/328807 ^@ NM_000285.3(PEPD):c.751T>A (p.Ser251Thr) http://identifiers.org/clinvar/329007 ^@ NM_000540.2(RYR1):c.3123C>T (p.Ala1041=) http://identifiers.org/clinvar/327268 ^@ NM_001083962.1(TCF4):c.*2702_*2704delAGT http://identifiers.org/clinvar/329107 ^@ NM_000540.2(RYR1):c.11385C>T (p.Ser3795=) http://identifiers.org/clinvar/327368 ^@ NM_000140.3(FECH):c.*2782G>T http://identifiers.org/clinvar/368374 ^@ NM_153380.3(ZNF41):c.387A>G (p.Ser129=) http://identifiers.org/clinvar/368424 ^@ NM_007137.3(ZNF81):c.*2605G>A http://identifiers.org/clinvar/329257 ^@ NM_181882.2(PRX):c.3271G>A (p.Ala1091Thr) http://identifiers.org/clinvar/328057 ^@ NM_000527.4(LDLR):c.*169G>T http://identifiers.org/clinvar/328307 ^@ NM_006563.4(KLF1):c.*291A>G http://identifiers.org/clinvar/328757 ^@ NM_014270.4(SLC7A9):c.526G>A (p.Val176Ile) http://identifiers.org/clinvar/337793 ^@ NM_006363.4(SEC23B):c.1233+25dupT http://identifiers.org/clinvar/328907 ^@ NM_001083961.1(WDR62):c.791G>A (p.Arg264Gln) http://identifiers.org/clinvar/337843 ^@ NM_024411.4(PDYN):c.-241G>C http://identifiers.org/clinvar/328957 ^@ NM_032753.3(RAX2):c.*680G>A http://identifiers.org/clinvar/337893 ^@ NM_000361.2(THBD):c.331G>A (p.Val111Ile) http://identifiers.org/clinvar/329207 ^@ NM_017827.3(SARS2):c.*79G>C http://identifiers.org/clinvar/338043 ^@ NM_033118.3(MYLK2):c.474-4C>A http://identifiers.org/clinvar/329157 ^@ NM_033064.4(ATCAY):c.*266C>T http://identifiers.org/clinvar/338143 ^@ NM_015338.5(ASXL1):c.*1813C>T http://identifiers.org/clinvar/329307 ^@ NM_003573.2(LTBP4):c.1531A>G (p.Met511Val) http://identifiers.org/clinvar/338343 ^@ NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) http://identifiers.org/clinvar/339283 ^@ NM_001853.3(COL9A3):c.1107+15C>T http://identifiers.org/clinvar/339383 ^@ NM_025219.2(DNAJC5):c.*1183G>T http://identifiers.org/clinvar/339583 ^@ NM_000933.3(PLCB4):c.2779-15A>C http://identifiers.org/clinvar/339833 ^@ NM_001754.4(RUNX1):c.*2329A>G http://identifiers.org/clinvar/337693 ^@ NM_018848.3(MKKS):c.82G>C (p.Val28Leu) http://identifiers.org/clinvar/337743 ^@ NM_000214.2(JAG1):c.3570G>A (p.Pro1190=) http://identifiers.org/clinvar/340033 ^@ NM_020639.2(RIPK4):c.302C>T (p.Thr101Met) http://identifiers.org/clinvar/338243 ^@ NM_032034.3(SLC4A11):c.1910G>A (p.Arg637His) http://identifiers.org/clinvar/338093 ^@ NM_015338.5(ASXL1):c.2127C>G (p.Ala709=) http://identifiers.org/clinvar/340383 ^@ NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) http://identifiers.org/clinvar/340534 ^@ NM_006031.5(PCNT):c.8172C>T (p.Ile2724=) http://identifiers.org/clinvar/340784 ^@ NM_017929.5(PEX26):c.*1171G>A http://identifiers.org/clinvar/339233 ^@ NM_017671.4(FERMT1):c.234C>T (p.Asp78=) http://identifiers.org/clinvar/339683 ^@ NM_178817.3(MRAP):c.390C>G (p.Thr130=) http://identifiers.org/clinvar/339733 ^@ NM_000219.5(KCNE1):c.*2001G>A http://identifiers.org/clinvar/341823 ^@ NM_001429.3(EP300):c.6417C>T (p.Gly2139=) http://identifiers.org/clinvar/386825 ^@ NM_020987.4(ANK3):c.1792G>A (p.Gly598Arg) http://identifiers.org/clinvar/388664 ^@ NM_020987.4(ANK3):c.1291G>A (p.Glu431Lys) http://identifiers.org/clinvar/383234 ^@ NM_007327.3(GRIN1):c.1584G>A (p.Glu528=) http://identifiers.org/clinvar/382432 ^@ NM_016065.3(MRPS16):c.-13C>T http://identifiers.org/clinvar/385625 ^@ NM_014141.5(CNTNAP2):c.1377C>T (p.His459=) http://identifiers.org/clinvar/379687 ^@ NM_000238.3(KCNH2):c.736G>T (p.Gly246Cys) http://identifiers.org/clinvar/382833 ^@ NM_000051.3(ATM):c.4910-16A>T http://identifiers.org/clinvar/377838 ^@ NM_000136.2(FANCC):c.-61C>G http://identifiers.org/clinvar/387714 ^@ NM_005343.3(HRAS):c.234C>T (p.Phe78=) http://identifiers.org/clinvar/392663 ^@ NM_002860.3(ALDH18A1):c.991A>C (p.Thr331Pro) http://identifiers.org/clinvar/386425 ^@ NM_152269.4(C12orf65):c.*6G>A http://identifiers.org/clinvar/383634 ^@ NM_025215.5(PUS1):c.942G>A (p.Leu314=) http://identifiers.org/clinvar/383985 ^@ NM_004820.4(CYP7B1):c.122+8C>T http://identifiers.org/clinvar/383735 ^@ NM_024740.2(ALG9):c.896-3C>T http://identifiers.org/clinvar/386275 ^@ NM_001382.3(DPAGT1):c.729-4A>C http://identifiers.org/clinvar/385775 ^@ NM_000051.3(ATM):c.3813T>C (p.Ile1271=) http://identifiers.org/clinvar/386325 ^@ NM_000719.6(CACNA1C):c.1896-18C>A http://identifiers.org/clinvar/378190 ^@ NM_000256.3(MYBPC3):c.772+9G>T http://identifiers.org/clinvar/392113 ^@ NM_000050.4(ASS1):c.786C>T (p.Gly262=) http://identifiers.org/clinvar/382282 ^@ NM_003172.3(SURF1):c.-25G>A http://identifiers.org/clinvar/378596 ^@ NM_024698.5(SLC25A22):c.930C>T (p.Ile310=) http://identifiers.org/clinvar/382081 ^@ NM_004990.3(MARS):c.1636-4C>T http://identifiers.org/clinvar/386875 ^@ NM_020822.2(KCNT1):c.334+7G>A http://identifiers.org/clinvar/387864 ^@ NM_020822.2(KCNT1):c.1061T>G (p.Met354Arg) http://identifiers.org/clinvar/383334 ^@ NM_020822.2(KCNT1):c.1402-12C>T http://identifiers.org/clinvar/388464 ^@ NM_000059.3(BRCA2):c.1284A>G (p.Leu428=) http://identifiers.org/clinvar/378038 ^@ NM_020822.2(KCNT1):c.3685A>G (p.Thr1229Ala) http://identifiers.org/clinvar/388114 ^@ NM_019892.5(INPP5E):c.1549+19G>A http://identifiers.org/clinvar/377538 ^@ NM_000053.3(ATP7B):c.2570T>C (p.Ile857Thr) http://identifiers.org/clinvar/387614 ^@ NM_153026.2(PRICKLE1):c.1869G>A (p.Lys623=) http://identifiers.org/clinvar/382232 ^@ NM_013382.5(POMT2):c.1017C>T (p.Tyr339=) http://identifiers.org/clinvar/382783 ^@ NM_024537.3(CARS2):c.1054+8G>A http://identifiers.org/clinvar/380288 ^@ NM_000059.3(BRCA2):c.316+18G>A http://identifiers.org/clinvar/381780 ^@ NM_006258.3(PRKG1):c.479-9C>T http://identifiers.org/clinvar/386225 ^@ NM_014000.2(VCL):c.1563G>C (p.Gly521=) http://identifiers.org/clinvar/385675 ^@ NM_000282.3(PCCA):c.601-10G>A http://identifiers.org/clinvar/391463 ^@ NM_002860.3(ALDH18A1):c.2232G>A (p.Ser744=) http://identifiers.org/clinvar/380539 ^@ NM_000059.3(BRCA2):c.5907C>A (p.Val1969=) http://identifiers.org/clinvar/392063 ^@ NM_020778.4(ALPK3):c.3075A>G (p.Ser1025=) http://identifiers.org/clinvar/388164 ^@ NM_000059.3(BRCA2):c.8166A>G (p.Thr2722=) http://identifiers.org/clinvar/380740 ^@ NM_152722.4(HEPACAM):c.703G>A (p.Val235Ile) http://identifiers.org/clinvar/392813 ^@ NM_000257.3(MYH7):c.1139-13C>T http://identifiers.org/clinvar/385725 ^@ NM_000257.3(MYH7):c.396G>A (p.Pro132=) http://identifiers.org/clinvar/385925 ^@ NM_000391.3(TPP1):c.828T>C (p.Asp276=) http://identifiers.org/clinvar/392313 ^@ NM_173201.3(ATP2A1):c.1184+1G>A http://identifiers.org/clinvar/383785 ^@ NM_020778.4(ALPK3):c.3896C>T (p.Pro1299Leu) http://identifiers.org/clinvar/377638 ^@ NM_004360.4(CDH1):c.714C>T (p.Asn238=) http://identifiers.org/clinvar/377437 ^@ NM_005159.4(ACTC1):c.1098G>A (p.Glu366=) http://identifiers.org/clinvar/384135 ^@ NM_001271.3(CHD2):c.3734+7A>G http://identifiers.org/clinvar/379787 ^@ NM_001127464.2(ZNF469):c.751C>A (p.Pro251Thr) http://identifiers.org/clinvar/379938 ^@ NM_174917.4(ACSF3):c.-194+24C>G http://identifiers.org/clinvar/380689 ^@ NM_005477.2(HCN4):c.1797G>A (p.Ala599=) http://identifiers.org/clinvar/388514 ^@ NM_002693.2(POLG):c.1122A>G (p.Arg374=) http://identifiers.org/clinvar/47440 ^@ NM_133378.4(TTN):c.76992A>C (p.Glu25664Asp) http://identifiers.org/clinvar/47490 ^@ NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu) http://identifiers.org/clinvar/47540 ^@ NM_133378.4(TTN):c.86526C>T (p.Ser28842=) http://identifiers.org/clinvar/47590 ^@ NM_133378.4(TTN):c.90091+6G>T http://identifiers.org/clinvar/47640 ^@ NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) http://identifiers.org/clinvar/47690 ^@ NM_133378.4(TTN):c.97712C>T (p.Thr32571Ile) http://identifiers.org/clinvar/47740 ^@ NM_001256850.1(TTN):c.10360+2545C>T http://identifiers.org/clinvar/47790 ^@ NM_133379.4(TTN):c.15961G>A (p.Val5321Ile) http://identifiers.org/clinvar/47840 ^@ NM_001256850.1(TTN):c.12849A>C (p.Leu4283Phe) http://identifiers.org/clinvar/47890 ^@ NM_144573.3(NEXN):c.1407_1409delAGA (p.Glu470del) http://identifiers.org/clinvar/47940 ^@ NM_144612.6(LOXHD1):c.4714C>A (p.Arg1572=) http://identifiers.org/clinvar/47990 ^@ NM_153676.3(USH1C):c.2167C>T (p.Gln723Ter) http://identifiers.org/clinvar/48042 ^@ NM_005572.3(LMNA):c.154C>G (p.Leu52Val) http://identifiers.org/clinvar/48092 ^@ NM_005572.3(LMNA):c.895A>G (p.Ile299Val) http://identifiers.org/clinvar/48142 ^@ NM_001195794.1(CLRN1):c.127G>A (p.Gly43Arg) http://identifiers.org/clinvar/48192 ^@ NM_194248.2(OTOF):c.227+12A>G http://identifiers.org/clinvar/48242 ^@ NM_194248.2(OTOF):c.4869C>T (p.Gly1623=) http://identifiers.org/clinvar/273 ^@ NM_173546.2(KLHDC8B):c.-158C>T http://identifiers.org/clinvar/282 ^@ NM_001159772.1(CANT1):c.374G>A (p.Trp125Ter) http://identifiers.org/clinvar/305 ^@ NM_000552.4(VWF):c.1648G>A (p.Gly550Arg) http://identifiers.org/clinvar/315 ^@ NM_000552.4(VWF):c.7085G>T (p.Cys2362Phe) http://identifiers.org/clinvar/329 ^@ FAM134B, 2-BP DEL, 17CT http://identifiers.org/clinvar/352 ^@ NM_000267.3(NF1):c.1642-8A>G http://identifiers.org/clinvar/613 ^@ NM_000277.1(PAH):c.896T>G (p.Phe299Cys) http://identifiers.org/clinvar/717 ^@ NM_001109809.2(ZFP57):c.1383delC (p.Tyr462Ilefs) http://identifiers.org/clinvar/950 ^@ NM_203447.3(DOCK8):c.1126-395_2971-2751del http://identifiers.org/clinvar/964 ^@ OCA2, IVS1, HAPLOTYPE 1 http://identifiers.org/clinvar/1054 ^@ NM_022489.3(INF2):c.125T>C (p.Leu42Pro) http://identifiers.org/clinvar/1063 ^@ NM_018122.4(DARS2):c.133A>G (p.Ser45Gly) http://identifiers.org/clinvar/1721 ^@ NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) http://identifiers.org/clinvar/1770 ^@ NG_007110.2:g.4247_24291del20045 http://identifiers.org/clinvar/1818 ^@ NM_018451.4(CENPJ):c.3704A>T (p.Glu1235Val) http://identifiers.org/clinvar/1863 ^@ NM_001164730.1(REEP1):c.358C>T (p.Arg120Ter) http://identifiers.org/clinvar/2133 ^@ NM_001128225.2(SLC39A13):c.221G>A (p.Gly74Asp) http://identifiers.org/clinvar/2180 ^@ NM_022370.3(ROBO3):c.196A>C (p.Ile66Leu) http://identifiers.org/clinvar/2225 ^@ NM_000551.3(VHL):c.562C>G (p.Leu188Val) http://identifiers.org/clinvar/2270 ^@ NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) http://identifiers.org/clinvar/2316 ^@ NM_005609.2(PYGM):c.425_528del http://identifiers.org/clinvar/2361 ^@ NM_206933.2(USH2A):c.2209C>T (p.Arg737Ter) http://identifiers.org/clinvar/2407 ^@ NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) http://identifiers.org/clinvar/2452 ^@ NM_000434.3(NEU1):c.239C>T (p.Pro80Leu) http://identifiers.org/clinvar/2499 ^@ NM_000127.2(EXT1):c.357C>A (p.Tyr119Ter) http://identifiers.org/clinvar/2545 ^@ NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) http://identifiers.org/clinvar/2592 ^@ NM_198586.2(NHLRC1):c.923A>C (p.Asp308Ala) http://identifiers.org/clinvar/2638 ^@ NM_153240.4(NPHP3):c.3340C>T (p.Gln1114Ter) http://identifiers.org/clinvar/2683 ^@ CCM2, 4-BP DEL, NT169 http://identifiers.org/clinvar/2775 ^@ NM_024312.4(GNPTAB):c.1120T>C (p.Phe374Leu) http://identifiers.org/clinvar/2865 ^@ NM_001171507.2(MCFD2):c.149+5G>A http://identifiers.org/clinvar/2910 ^@ NM_030962.3(SBF2):c.2875C>T (p.Gln959Ter) http://identifiers.org/clinvar/2956 ^@ NM_000379.3(XDH):c.445C>T (p.Arg149Cys) http://identifiers.org/clinvar/3000 ^@ NM_000226.3(KRT9):c.483T>A (p.Asn161Lys) http://identifiers.org/clinvar/3096 ^@ MMAB, IVS3, G-A, -1 http://identifiers.org/clinvar/3196 ^@ NM_016038.3(SBDS):c.258+2T>C http://identifiers.org/clinvar/3242 ^@ NM_007171.3(POMT1):c.1746G>C (p.Trp582Cys) http://identifiers.org/clinvar/3334 ^@ NM_203288.1(RP9):c.410A>T (p.His137Leu) http://identifiers.org/clinvar/10169 ^@ NM_000132.3(F8):c.350T>G (p.Leu117Arg) http://identifiers.org/clinvar/10213 ^@ NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) http://identifiers.org/clinvar/10259 ^@ NM_000132.3(F8):c.4328_4331delAAGA (p.Lys1443Ilefs) http://identifiers.org/clinvar/10303 ^@ NM_000132.3(F8):c.6016G>T (p.Glu2006Ter) http://identifiers.org/clinvar/10349 ^@ F8, EX23-26DEL http://identifiers.org/clinvar/10399 ^@ NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) http://identifiers.org/clinvar/10446 ^@ NM_000166.5(GJB1):c.164C>T (p.Thr55Ile) http://identifiers.org/clinvar/10494 ^@ NM_000202.7(IDS):c.404A>G (p.Lys135Arg) http://identifiers.org/clinvar/10585 ^@ NM_000133.3(F9):c.572G>A (p.Arg191His) http://identifiers.org/clinvar/10676 ^@ NM_031407.6(HUWE1):c.12037C>T (p.Arg4013Trp) http://identifiers.org/clinvar/10720 ^@ GLA, IVS6DS, G-T, +1 http://identifiers.org/clinvar/10766 ^@ NM_000169.2(GLA):c.194G>C (p.Ser65Thr) http://identifiers.org/clinvar/10810 ^@ MID1, EX1 DUP http://identifiers.org/clinvar/10856 ^@ OCRL, 112-BP DEL http://identifiers.org/clinvar/10901 ^@ NM_002351.4(SH2D1A):c.95G>C (p.Arg32Thr) http://identifiers.org/clinvar/10947 ^@ NM_001128127.2(GK):c.42765-52ins316 http://identifiers.org/clinvar/10993 ^@ NM_000531.5(OTC):c.77G>A (p.Arg26Gln) http://identifiers.org/clinvar/11037 ^@ NM_001399.4(EDA):c.467G>A (p.Arg156His) http://identifiers.org/clinvar/11082 ^@ NM_001128834.2(PLP1):c.220G>A (p.Gly74Arg) http://identifiers.org/clinvar/11127 ^@ NM_000377.2(WAS):c.1442T>A (p.Ile481Asn) http://identifiers.org/clinvar/11173 ^@ EMD, 29-BP DEL, NT113 http://identifiers.org/clinvar/11218 ^@ DMD, EX21DEL http://identifiers.org/clinvar/11410 ^@ NM_014009.3(FOXP3):c.1150G>A (p.Ala384Thr) http://identifiers.org/clinvar/11460 ^@ NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg) http://identifiers.org/clinvar/11512 ^@ NM_001011658.3(TRAPPC2):c.93+5G>A http://identifiers.org/clinvar/11562 ^@ NM_001159702.2(FHL1):c.369C>G (p.His123Gln) http://identifiers.org/clinvar/11612 ^@ NM_005491.4(MAMLD1):c.808C>T (p.Gln270Ter) http://identifiers.org/clinvar/11662 ^@ RPS6KA3, IVS5, A-G, -11 http://identifiers.org/clinvar/11713 ^@ NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) http://identifiers.org/clinvar/11764 ^@ NM_001110556.1(FLNA):c.4147delG (p.Ala1383Leufs) http://identifiers.org/clinvar/11815 ^@ NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) http://identifiers.org/clinvar/11865 ^@ NM_000137.2(FAH):c.47A>T (p.Asn16Ile) http://identifiers.org/clinvar/11915 ^@ NM_000203.4(IDUA):c.928C>T (p.Gln310Ter) http://identifiers.org/clinvar/11965 ^@ NM_000108.4(DLD):c.1463C>T (p.Pro488Leu) http://identifiers.org/clinvar/12017 ^@ NM_000532.4(PCCB):c.1539_1540insCCC (p.Ala513_Arg514insPro) http://identifiers.org/clinvar/12067 ^@ F7, ARG304GLN http://identifiers.org/clinvar/12117 ^@ C6, 1-BP DEL, 1936G http://identifiers.org/clinvar/12170 ^@ CYP21A2, ARG339HIS AND PRO453SER http://identifiers.org/clinvar/12222 ^@ AVP, 3-BP DEL, PHE3DEL http://identifiers.org/clinvar/12273 ^@ NM_000463.2(UGT1A1):c.840C>A (p.Cys280Ter) http://identifiers.org/clinvar/12325 ^@ NM_199292.2(TH):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/12376 ^@ NM_000546.5(TP53):c.412G>C (p.Ala138Pro) http://identifiers.org/clinvar/12427 ^@ TNNI3, A2V http://identifiers.org/clinvar/12478 ^@ TGM1, 1-BP DEL, 4640T http://identifiers.org/clinvar/12528 ^@ NM_000660.6(TGFB1):c.673T>C (p.Cys225Arg) http://identifiers.org/clinvar/12578 ^@ NM_033360.3(KRAS):c.34G>T (p.Gly12Cys) http://identifiers.org/clinvar/13124 ^@ NM_000537.3(REN):c.689G>A (p.Arg230Lys) http://identifiers.org/clinvar/13175 ^@ NM_000322.4(PRPH2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/13226 ^@ NM_000055.3(BCHE):c.1072T>A (p.Leu358Ile) http://identifiers.org/clinvar/13277 ^@ NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) http://identifiers.org/clinvar/13328 ^@ NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) http://identifiers.org/clinvar/13378 ^@ NM_000207.2(INS):c.143T>C (p.Phe48Ser) http://identifiers.org/clinvar/13432 ^@ NM_000371.3(TTR):c.166G>C (p.Ala56Pro) http://identifiers.org/clinvar/13484 ^@ NM_000217.2(KCNA1):c.551T>G (p.Phe184Cys) http://identifiers.org/clinvar/13534 ^@ NM_000174.4(GP9):c.20T>C (p.Leu7Pro) http://identifiers.org/clinvar/37388 ^@ NM_007294.3(BRCA1):c.1033G>T (p.Asp345Tyr) http://identifiers.org/clinvar/37440 ^@ NM_007294.3(BRCA1):c.19C>T (p.Arg7Cys) http://identifiers.org/clinvar/37491 ^@ NM_007294.3(BRCA1):c.2806_2809delGATA (p.Asp936Serfs) http://identifiers.org/clinvar/37549 ^@ NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val) http://identifiers.org/clinvar/37868 ^@ NM_000059.3(BRCA2):c.3966_3968delCAA (p.Asn1322del) http://identifiers.org/clinvar/37921 ^@ NM_000059.3(BRCA2):c.475+4delT http://identifiers.org/clinvar/37975 ^@ NM_000059.3(BRCA2):c.5576_5579delTTAA (p.Ile1859Lysfs) http://identifiers.org/clinvar/38026 ^@ NM_000059.3(BRCA2):c.6206T>G (p.Leu2069Ter) http://identifiers.org/clinvar/38080 ^@ NM_000059.3(BRCA2):c.7037A>G (p.Asn2346Ser) http://identifiers.org/clinvar/38130 ^@ NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly) http://identifiers.org/clinvar/38180 ^@ NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) http://identifiers.org/clinvar/38230 ^@ NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) http://identifiers.org/clinvar/38287 ^@ NM_003060.3(SLC22A5):c.557T>C (p.Leu186Pro) http://identifiers.org/clinvar/38486 ^@ NM_000155.3(GALT):c.857A>G (p.Tyr286Cys) http://identifiers.org/clinvar/38347 ^@ NM_002437.4(MPV17):c.186+2T>C http://identifiers.org/clinvar/38403 ^@ NM_014252.3(SLC25A15):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/38636 ^@ NG_000006.1:g.34164_37967del3804 http://identifiers.org/clinvar/38782 ^@ NM_000495.4(COL4A5):c.4271G>A (p.Gly1424Glu) http://identifiers.org/clinvar/38906 ^@ NM_001039958.1(MESP2):c.197C>G (p.Ala66Gly) http://identifiers.org/clinvar/38956 ^@ NM_001363.4(DKC1):c.949C>G (p.Leu317Val) http://identifiers.org/clinvar/39008 ^@ NM_014846.3(WASHC5):c.1857G>T (p.Leu619Phe) http://identifiers.org/clinvar/39058 ^@ NM_024312.4(GNPTAB):c.2693delA (p.Lys898Serfs) http://identifiers.org/clinvar/39112 ^@ NM_198253.2(TERT):c.2178G>A (p.Thr726=) http://identifiers.org/clinvar/39165 ^@ NM_198578.3(LRRK2):c.3451G>A (p.Ala1151Thr) http://identifiers.org/clinvar/39215 ^@ NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter) http://identifiers.org/clinvar/39266 ^@ NM_207352.3(CYP4V2):c.518T>G (p.Leu173Trp) http://identifiers.org/clinvar/39427 ^@ NM_005709.3(USH1C):c.308G>A (p.Arg103His) http://identifiers.org/clinvar/39479 ^@ NM_001567.3(INPPL1):c.1201C>T (p.Arg401Trp) http://identifiers.org/clinvar/39530 ^@ NM_000359.2(TGM1):c.944G>A (p.Arg315His) http://identifiers.org/clinvar/39580 ^@ NM_003647.2(DGKE):c.889-2A>G http://identifiers.org/clinvar/39632 ^@ CHD8, 2-BP DEL, CT http://identifiers.org/clinvar/39684 ^@ NM_017802.3(DNAAF5):c.2384T>C (p.Leu795Pro) http://identifiers.org/clinvar/39734 ^@ AAGAB, 2-BP DEL, 348AG http://identifiers.org/clinvar/39785 ^@ NM_003036.3(SKI):c.104C>A (p.Pro35Gln) http://identifiers.org/clinvar/39836 ^@ NM_002491.2(NDUFB3):c.208G>T (p.Gly70Ter) http://identifiers.org/clinvar/40979 ^@ NM_000081.3(LYST):c.9107_9162del56 (p.Gly3036Glufs) http://identifiers.org/clinvar/41035 ^@ NM_000748.2(CHRNB2):c.923T>C (p.Val308Ala) http://identifiers.org/clinvar/41093 ^@ NM_003611.2(OFD1):c.2176delC (p.Arg726Alafs) http://identifiers.org/clinvar/41149 ^@ NM_003611.2(OFD1):c.839_840delAA (p.Lys280Argfs) http://identifiers.org/clinvar/41200 ^@ NM_003977.3(AIP):c.721A>G (p.Lys241Glu) http://identifiers.org/clinvar/53672 ^@ NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) http://identifiers.org/clinvar/53723 ^@ NM_000492.3(CFTR):c.3364delA (p.Thr1122Glnfs) http://identifiers.org/clinvar/53774 ^@ NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) http://identifiers.org/clinvar/53826 ^@ NM_000492.3(CFTR):c.3871C>T (p.Gln1291Ter) http://identifiers.org/clinvar/53878 ^@ NM_000492.3(CFTR):c.4040_4041delGC (p.Ser1347Thrfs) http://identifiers.org/clinvar/53929 ^@ NM_000492.3(CFTR):c.4242+1G>A http://identifiers.org/clinvar/53979 ^@ NM_000492.3(CFTR):c.49_50dupTT (p.Trp19Alafs) http://identifiers.org/clinvar/54029 ^@ NM_000492.3(CFTR):c.619C>T (p.Gln207Ter) http://identifiers.org/clinvar/54081 ^@ NM_000492.3(CFTR):c.88C>T (p.Gln30Ter) http://identifiers.org/clinvar/54131 ^@ NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) http://identifiers.org/clinvar/54181 ^@ NM_007294.3(BRCA1):c.1265_1266dupAT (p.Ser423Ilefs) http://identifiers.org/clinvar/54231 ^@ NM_007294.3(BRCA1):c.1384_1393dupGGGAAAACCT (p.Tyr465Trpfs) http://identifiers.org/clinvar/54282 ^@ NM_007294.3(BRCA1):c.1517_1521delGGAGA (p.Arg506Thrfs) http://identifiers.org/clinvar/54822 ^@ NM_007294.3(BRCA1):c.3289delA (p.Ser1097Valfs) http://identifiers.org/clinvar/54922 ^@ NM_007294.3(BRCA1):c.3581C>T (p.Thr1194Ile) http://identifiers.org/clinvar/54974 ^@ NM_007294.3(BRCA1):c.3713C>G (p.Pro1238Arg) http://identifiers.org/clinvar/55025 ^@ NM_007294.3(BRCA1):c.3842A>C (p.Gln1281Pro) http://identifiers.org/clinvar/55075 ^@ NM_007294.3(BRCA1):c.4011C>G (p.Asp1337Glu) http://identifiers.org/clinvar/55126 ^@ NM_007294.3(BRCA1):c.4183_4185delCAG (p.Gln1396del) http://identifiers.org/clinvar/55177 ^@ NM_007294.3(BRCA1):c.4357+1G>C http://identifiers.org/clinvar/55228 ^@ NM_007294.3(BRCA1):c.4565A>G (p.Tyr1522Cys) http://identifiers.org/clinvar/55278 ^@ NM_007294.3(BRCA1):c.4745delA (p.Asp1582Alafs) http://identifiers.org/clinvar/55329 ^@ NM_007294.3(BRCA1):c.494dupT (p.Arg166Glufs) http://identifiers.org/clinvar/55379 ^@ NM_007294.3(BRCA1):c.5075-2A>C http://identifiers.org/clinvar/55429 ^@ NM_007294.3(BRCA1):c.5153-1G>A http://identifiers.org/clinvar/55479 ^@ NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg) http://identifiers.org/clinvar/55532 ^@ NM_007294.3(BRCA1):c.5332G>T (p.Asp1778Tyr) http://identifiers.org/clinvar/55582 ^@ NM_007294.3(BRCA1):c.5448A>G (p.Thr1816=) http://identifiers.org/clinvar/55632 ^@ NM_007294.3(BRCA1):c.5566C>T (p.Pro1856Ser) http://identifiers.org/clinvar/55684 ^@ NM_007294.3(BRCA1):c.73C>A (p.Pro25Thr) http://identifiers.org/clinvar/55736 ^@ NM_007294.3(BRCA1):c.848T>A (p.Leu283Ter) http://identifiers.org/clinvar/55797 ^@ NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) http://identifiers.org/clinvar/55867 ^@ NM_000141.4(FGFR2):c.756_758delGCCinsCTT (p.Pro253Phe) http://identifiers.org/clinvar/55943 ^@ NM_000027.3(AGA):c.369_373delACACA (p.His124Thrfs) http://identifiers.org/clinvar/55994 ^@ NM_000111.2(SLC26A3):c.269_270dupAA (p.Gly91Lysfs) http://identifiers.org/clinvar/56047 ^@ NM_000170.2(GLDC):c.1597A>T (p.Asn533Tyr) http://identifiers.org/clinvar/56098 ^@ NM_000170.2(GLDC):c.482A>G (p.Tyr161Cys) http://identifiers.org/clinvar/56152 ^@ NM_000243.2(MEFV):c.863C>A (p.Ser288Tyr) http://identifiers.org/clinvar/56203 ^@ NM_000310.3(PPT1):c.544C>T (p.Gln182Ter) http://identifiers.org/clinvar/56254 ^@ NM_001042432.1(CLN3):c.126-1G>A http://identifiers.org/clinvar/56304 ^@ NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) http://identifiers.org/clinvar/56356 ^@ NM_001126105.2(SLC7A7):c.1371C>A (p.Tyr457Ter) http://identifiers.org/clinvar/56408 ^@ NM_004260.3(RECQL4):c.3214A>T (p.Arg1072Ter) http://identifiers.org/clinvar/56458 ^@ NM_004646.3(NPHS1):c.2019C>A (p.Asn673Lys) http://identifiers.org/clinvar/56767 ^@ NM_153704.5(TMEM67):c.1413-1G>C http://identifiers.org/clinvar/56892 ^@ NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser) http://identifiers.org/clinvar/57027 ^@ GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 http://identifiers.org/clinvar/57082 ^@ GRCh38/hg38 8p23.2(chr8:2475295-3082171)x3 http://identifiers.org/clinvar/101165 ^@ NM_000090.3(COL3A1):c.2770G>T (p.Gly924Cys) http://identifiers.org/clinvar/102575 ^@ NM_000277.1(PAH):c.1237C>A (p.Arg413Ser) http://identifiers.org/clinvar/102627 ^@ NM_000277.1(PAH):c.202A>G (p.Arg68Gly) http://identifiers.org/clinvar/102682 ^@ NM_000277.1(PAH):c.451G>C (p.Asp151His) http://identifiers.org/clinvar/102732 ^@ NM_000277.1(PAH):c.547G>C (p.Glu183Gln) http://identifiers.org/clinvar/102783 ^@ NM_000277.1(PAH):c.678G>C (p.Gln226His) http://identifiers.org/clinvar/102833 ^@ NM_000277.1(PAH):c.789C>G (p.Phe263Leu) http://identifiers.org/clinvar/102885 ^@ NM_000277.1(PAH):c.889C>T (p.Arg297Cys) http://identifiers.org/clinvar/102943 ^@ NM_006092.2(NOD1):c.-1152C>T http://identifiers.org/clinvar/102993 ^@ NM_000246.3(CIITA):c.1230G>A (p.Pro410=) http://identifiers.org/clinvar/103043 ^@ NM_001079821.2(NLRP3):c.403+139T>C http://identifiers.org/clinvar/103093 ^@ NM_006092.2(NOD1):c.2080G>A (p.Ala694Thr) http://identifiers.org/clinvar/103143 ^@ NM_024618.3(NLRX1):c.2528C>T (p.Ala843Val) http://identifiers.org/clinvar/103193 ^@ NM_032206.4(NLRC5):c.424+46C>G http://identifiers.org/clinvar/103243 ^@ NM_138329.2(NLRP6):c.261G>A (p.Arg87=) http://identifiers.org/clinvar/103293 ^@ NM_153447.4(NLRP5):c.443-72C>T http://identifiers.org/clinvar/103343 ^@ NM_176822.3(NLRP14):c.2027G>C (p.Arg676Thr) http://identifiers.org/clinvar/111217 ^@ NM_000416.2(IFNGR1):c.734-343C>A http://identifiers.org/clinvar/111267 ^@ NM_003264.4(TLR2):c.1906A>C (p.Ser636Arg) http://identifiers.org/clinvar/120229 ^@ NM_017637.5(BNC2):c.1545A>G (p.Ser515=) http://identifiers.org/clinvar/120279 ^@ NM_000277.1(PAH):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/125436 ^@ NM_000277.1(PAH):c.505C>T (p.Arg169Cys) http://identifiers.org/clinvar/125499 ^@ NM_007294.3(BRCA1):c.1392dupC (p.Tyr465Leufs) http://identifiers.org/clinvar/125569 ^@ K820E http://identifiers.org/clinvar/125658 ^@ NM_007294.3(BRCA1):c.3908dupT (p.Leu1303Phefs) http://identifiers.org/clinvar/125720 ^@ NM_007294.3(BRCA1):c.4644_4645ins8 http://identifiers.org/clinvar/125789 ^@ U14680.1:n.5272-66G>A http://identifiers.org/clinvar/125858 ^@ NM_007294.3(BRCA1):c.441+36C>T http://identifiers.org/clinvar/125920 ^@ U14680.1:n.G>A http://identifiers.org/clinvar/125983 ^@ U43746.1:n.2719A>G http://identifiers.org/clinvar/126048 ^@ NM_000059.3(BRCA2):c.4563A= (p.Leu1521=) http://identifiers.org/clinvar/126122 ^@ NM_000059.3(BRCA2):c.6841+80_6841+83delTTAA http://identifiers.org/clinvar/126656 ^@ NM_024675.3(PALB2):c.2514+71delC http://identifiers.org/clinvar/127632 ^@ NM_000251.2(MSH2):c.1601G>A (p.Arg534His) http://identifiers.org/clinvar/127691 ^@ NM_000314.6(PTEN):c.234C>T (p.Thr78=) http://identifiers.org/clinvar/127741 ^@ NM_000465.3(BARD1):c.620A>G (p.Lys207Arg) http://identifiers.org/clinvar/127792 ^@ NM_000535.6(PMS2):c.487T>C (p.Phe163Leu) http://identifiers.org/clinvar/160355 ^@ NM_003937.2(KYNU):c.592A>G (p.Thr198Ala) http://identifiers.org/clinvar/160811 ^@ GRCh38/hg38 6q15(chr6:91673441-92230175)x1 http://identifiers.org/clinvar/160862 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 http://identifiers.org/clinvar/160914 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1 http://identifiers.org/clinvar/160966 ^@ GRCh38/hg38 9p24.3(chr9:204193-280314)x3 http://identifiers.org/clinvar/161017 ^@ GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 http://identifiers.org/clinvar/161067 ^@ GRCh38/hg38 6p25.3(chr6:266079-339802)x3 http://identifiers.org/clinvar/161117 ^@ NM_015506.2(MMACHC):c.276G>T (p.Glu92Asp) http://identifiers.org/clinvar/161196 ^@ NM_001114748.1(TMEM240):c.511C>T (p.Arg171Trp) http://identifiers.org/clinvar/161299 ^@ NM_000251.2(MSH2):c.1927G>A (p.Glu643Lys) http://identifiers.org/clinvar/161400 ^@ NM_000551.3(VHL):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/161349 ^@ NM_000313.3(PROS1):c.1747A>C (p.Asn583His) http://identifiers.org/clinvar/161249 ^@ NM_000190.3(HMBS):c.1075G>A (p.Asp359Asn) http://identifiers.org/clinvar/161468 ^@ NM_000503.5(EYA1):c.1107G>T (p.Leu369Phe) http://identifiers.org/clinvar/161618 ^@ NM_003739.5(AKR1C3):c.27G>T (p.Lys9Asn) http://identifiers.org/clinvar/161518 ^@ NM_001126115.1(TP53):c.85G>A (p.Ala29Thr) http://identifiers.org/clinvar/161568 ^@ NM_001201429.1(CABIN1):c.3757G>A (p.Glu1253Lys) http://identifiers.org/clinvar/162379 ^@ NM_152778.2(MFSD8):c.1141G>T (p.Glu381Ter) http://identifiers.org/clinvar/179226 ^@ NM_206933.2(USH2A):c.5752G>A (p.Glu1918Lys) http://identifiers.org/clinvar/178118 ^@ NM_001035.2(RYR2):c.2935G>T (p.Ala979Ser) http://identifiers.org/clinvar/179376 ^@ NM_024009.2(GJB3):c.293G>A (p.Arg98His) http://identifiers.org/clinvar/178168 ^@ NM_133378.4(TTN):c.86277C>G (p.Val28759=) http://identifiers.org/clinvar/165763 ^@ NM_133378.4(TTN):c.80703G>A (p.Ala26901=) http://identifiers.org/clinvar/179826 ^@ NM_133378.4(TTN):c.42238A>G (p.Lys14080Glu) http://identifiers.org/clinvar/166454 ^@ NM_206933.2(USH2A):c.10656T>C (p.Ser3552=) http://identifiers.org/clinvar/165890 ^@ NM_133378.4(TTN):c.58350G>A (p.Glu19450=) http://identifiers.org/clinvar/178218 ^@ NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) http://identifiers.org/clinvar/179276 ^@ NM_133378.4(TTN):c.27659G>A (p.Arg9220Gln) http://identifiers.org/clinvar/179676 ^@ NM_133378.4(TTN):c.19639T>C (p.Phe6547Leu) http://identifiers.org/clinvar/177967 ^@ NM_133378.4(TTN):c.13580C>G (p.Thr4527Ser) http://identifiers.org/clinvar/166230 ^@ NM_133432.3(TTN):c.13068G>A (p.Gln4356=) http://identifiers.org/clinvar/166089 ^@ NM_133378.4(TTN):c.31983_31985delTCC (p.Pro10663del) http://identifiers.org/clinvar/166280 ^@ NM_133379.4(TTN):c.11064T>C (p.Asn3688=) http://identifiers.org/clinvar/178268 ^@ NM_001256850.1(TTN):c.8434G>C (p.Val2812Leu) http://identifiers.org/clinvar/166330 ^@ NM_133378.4(TTN):c.3445G>A (p.Asp1149Asn) http://identifiers.org/clinvar/179976 ^@ NM_133378.4(TTN):c.1834A>G (p.Lys612Glu) http://identifiers.org/clinvar/164839 ^@ NM_194248.2(OTOF):c.4951G>A (p.Asp1651Asn) http://identifiers.org/clinvar/165974 ^@ NM_001256850.1(TTN):c.49889-5A>G http://identifiers.org/clinvar/177916 ^@ NM_002880.3(RAF1):c.-169G>A http://identifiers.org/clinvar/178318 ^@ NM_174878.2(CLRN1):c.660C>T (p.Asp220=) http://identifiers.org/clinvar/165493 ^@ NM_003280.2(TNNC1):c.203-5C>T http://identifiers.org/clinvar/164944 ^@ NM_003924.3(PHOX2B):c.762A>C (p.Ala254=) http://identifiers.org/clinvar/165391 ^@ NM_003242.5(TGFBR2):c.859T>C (p.Trp287Arg) http://identifiers.org/clinvar/179876 ^@ NM_001080476.2(GRXCR1):c.152G>A (p.Gly51Glu) http://identifiers.org/clinvar/177715 ^@ NM_016203.3(PRKAG2):c.1296G>A (p.Thr432=) http://identifiers.org/clinvar/165231 ^@ NM_172244.2(SGCD):c.193-12G>T http://identifiers.org/clinvar/163970 ^@ NM_001038603.2(MARVELD2):c.1095A>G (p.Leu365=) http://identifiers.org/clinvar/178368 ^@ NM_032119.3(ADGRV1):c.13185C>T (p.Asn4395=) http://identifiers.org/clinvar/198517 ^@ NM_004595.4(SMS):c.661-5C>T http://identifiers.org/clinvar/198568 ^@ NM_016616.4(NME8):c.271-3T>C http://identifiers.org/clinvar/198620 ^@ NM_153026.2(PRICKLE1):c.1248G>A (p.Thr416=) http://identifiers.org/clinvar/198671 ^@ NM_033071.3(SYNE1):c.14050C>T (p.Leu4684Phe) http://identifiers.org/clinvar/198724 ^@ NM_000390.3(CHM):c.957A>G (p.Thr319=) http://identifiers.org/clinvar/198778 ^@ NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) http://identifiers.org/clinvar/198829 ^@ NM_005477.2(HCN4):c.3197C>A (p.Pro1066His) http://identifiers.org/clinvar/198885 ^@ NM_001165927.1(MKS1):c.812G>C (p.Arg271Pro) http://identifiers.org/clinvar/198938 ^@ NM_207346.2(TSEN54):c.1120C>G (p.Arg374Gly) http://identifiers.org/clinvar/198989 ^@ NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) http://identifiers.org/clinvar/199040 ^@ NM_000784.3(CYP27A1):c.1505C>A (p.Ala502Asp) http://identifiers.org/clinvar/199093 ^@ NM_004369.3(COL6A3):c.3923G>A (p.Arg1308Gln) http://identifiers.org/clinvar/199145 ^@ NM_018136.4(ASPM):c.2679G>T (p.Leu893Phe) http://identifiers.org/clinvar/199196 ^@ NM_181714.3(LCA5):c.1726T>G (p.Phe576Val) http://identifiers.org/clinvar/199251 ^@ NM_033071.3(SYNE1):c.18514G>A (p.Glu6172Lys) http://identifiers.org/clinvar/199700 ^@ NM_000090.3(COL3A1):c.2242_2244delGGTinsAGC (p.Gly748Ser) http://identifiers.org/clinvar/199861 ^@ NM_004415.3(DSP):c.1468C>T (p.Arg490Cys) http://identifiers.org/clinvar/199920 ^@ NM_004415.3(DSP):c.3426dupG (p.Gln1143Alafs) http://identifiers.org/clinvar/200088 ^@ NM_000138.4(FBN1):c.6496G>C (p.Asp2166His) http://identifiers.org/clinvar/200034 ^@ NM_000138.4(FBN1):c.4337-2A>G http://identifiers.org/clinvar/199979 ^@ NM_000138.4(FBN1):c.1817C>A (p.Ser606Ter) http://identifiers.org/clinvar/200149 ^@ NM_000138.4(FBN1):c.1679dupG (p.Phe561Leufs) http://identifiers.org/clinvar/199754 ^@ NM_024422.4(DSC2):c.371A>G (p.His124Arg) http://identifiers.org/clinvar/199810 ^@ NM_001943.4(DSG2):c.1750C>T (p.Gln584Ter) http://identifiers.org/clinvar/203094 ^@ NM_001256850.1(TTN):c.100468A>G (p.Ile33490Val) http://identifiers.org/clinvar/203044 ^@ NM_001256850.1(TTN):c.94037C>T (p.Ser31346Phe) http://identifiers.org/clinvar/202994 ^@ NM_001256850.1(TTN):c.88601G>A (p.Arg29534His) http://identifiers.org/clinvar/230312 ^@ NM_000038.5(APC):c.4279C>G (p.Pro1427Ala) http://identifiers.org/clinvar/231312 ^@ NM_000038.5(APC):c.7278A>G (p.Gly2426=) http://identifiers.org/clinvar/230912 ^@ NM_000038.5(APC):c.8212A>G (p.Ile2738Val) http://identifiers.org/clinvar/231112 ^@ NM_005732.3(RAD50):c.1471G>A (p.Ala491Thr) http://identifiers.org/clinvar/231462 ^@ NM_005732.3(RAD50):c.3070T>G (p.Leu1024Val) http://identifiers.org/clinvar/230362 ^@ NM_000535.6(PMS2):c.1134G>T (p.Leu378=) http://identifiers.org/clinvar/230712 ^@ NM_000535.6(PMS2):c.21G>A (p.Ser7=) http://identifiers.org/clinvar/231362 ^@ NM_000077.4(CDKN2A):c.370C>T (p.Arg124Cys) http://identifiers.org/clinvar/231262 ^@ NM_000077.4(CDKN2A):c.143C>G (p.Pro48Arg) http://identifiers.org/clinvar/231562 ^@ NM_000314.6(PTEN):c.549G>T (p.Lys183Asn) http://identifiers.org/clinvar/230612 ^@ NM_005591.3(MRE11):c.544+5G>T http://identifiers.org/clinvar/230962 ^@ NM_000059.3(BRCA2):c.3101T>C (p.Ile1034Thr) http://identifiers.org/clinvar/230662 ^@ NM_000059.3(BRCA2):c.3748G>A (p.Glu1250Lys) http://identifiers.org/clinvar/231512 ^@ NM_000059.3(BRCA2):c.4825A>G (p.Thr1609Ala) http://identifiers.org/clinvar/230162 ^@ NM_000059.3(BRCA2):c.6733C>A (p.Leu2245Met) http://identifiers.org/clinvar/230512 ^@ NM_000059.3(BRCA2):c.8332-3C>A http://identifiers.org/clinvar/231162 ^@ NM_024675.3(PALB2):c.1814C>T (p.Ser605Phe) http://identifiers.org/clinvar/230462 ^@ NM_004360.4(CDH1):c.2009T>C (p.Met670Thr) http://identifiers.org/clinvar/230762 ^@ NM_001042492.2(NF1):c.5189C>G (p.Thr1730Ser) http://identifiers.org/clinvar/230262 ^@ NM_001042492.2(NF1):c.8091A>G (p.Gln2697=) http://identifiers.org/clinvar/230412 ^@ NM_007294.3(BRCA1):c.2524G>A (p.Glu842Lys) http://identifiers.org/clinvar/230862 ^@ NM_007294.3(BRCA1):c.122A>T (p.His41Leu) http://identifiers.org/clinvar/230112 ^@ NM_000546.5(TP53):c.206C>G (p.Ala69Gly) http://identifiers.org/clinvar/230812 ^@ NM_005359.5(SMAD4):c.706G>A (p.Gly236Arg) http://identifiers.org/clinvar/235040 ^@ NM_006393.2(NEBL):c.2260C>G (p.His754Asp) http://identifiers.org/clinvar/235090 ^@ NM_005618.3(DLL1):c.2117C>T (p.Ser706Leu) http://identifiers.org/clinvar/235226 ^@ NM_020754.3(ARHGAP31):c.2344C>A (p.Pro782Thr) http://identifiers.org/clinvar/235279 ^@ NM_145261.3(DNAJC19):c.4-1G>A http://identifiers.org/clinvar/235333 ^@ NM_015272.4(RPGRIP1L):c.1736A>G (p.Tyr579Cys) http://identifiers.org/clinvar/235386 ^@ NM_176822.3(NLRP14):c.322A>T (p.Lys108Ter) http://identifiers.org/clinvar/235442 ^@ NM_014491.3(FOXP2):c.1266+8C>T http://identifiers.org/clinvar/235494 ^@ NM_015284.3(SZT2):c.7391T>C (p.Val2464Ala) http://identifiers.org/clinvar/235598 ^@ NC_012920.1:m.13635T>C http://identifiers.org/clinvar/236350 ^@ NC_000003.10:g.2187318_2447785dup260468 http://identifiers.org/clinvar/236400 ^@ NM_000157.3(GBA):c.1177C>G (p.Leu393Val) http://identifiers.org/clinvar/236451 ^@ NM_004744.4(LRAT):c.473G>A (p.Trp158Ter) http://identifiers.org/clinvar/236501 ^@ NM_006445.3(PRPF8):c.3910_3914delAACTC (p.Asn1304Glnfs) http://identifiers.org/clinvar/239451 ^@ NM_003001.3(SDHC):c.25G>A (p.Val9Ile) http://identifiers.org/clinvar/241491 ^@ NM_024529.4(CDC73):c.1185A>G (p.Gln395=) http://identifiers.org/clinvar/239551 ^@ NM_003705.4(SLC25A12):c.728G>A (p.Arg243Lys) http://identifiers.org/clinvar/241941 ^@ NM_145038.4(DRC1):c.495T>A (p.Ala165=) http://identifiers.org/clinvar/239801 ^@ NM_004304.4(ALK):c.2148C>T (p.Ser716=) http://identifiers.org/clinvar/239851 ^@ NM_004304.4(ALK):c.952G>A (p.Gly318Ser) http://identifiers.org/clinvar/237357 ^@ NM_000251.2(MSH2):c.10C>A (p.Gln4Lys) http://identifiers.org/clinvar/237407 ^@ NM_000251.2(MSH2):c.789T>G (p.Asn263Lys) http://identifiers.org/clinvar/237207 ^@ NM_000179.2(MSH6):c.408C>T (p.Asp136=) http://identifiers.org/clinvar/237156 ^@ NM_000179.2(MSH6):c.2391C>T (p.Asp797=) http://identifiers.org/clinvar/237307 ^@ NM_000249.3(MLH1):c.1185A>G (p.Ala395=) http://identifiers.org/clinvar/242191 ^@ NM_198056.2(SCN5A):c.2886C>T (p.Ala962=) http://identifiers.org/clinvar/240051 ^@ NM_004656.3(BAP1):c.1749G>A (p.Ser583=) http://identifiers.org/clinvar/240352 ^@ NM_006206.4(PDGFRA):c.517G>A (p.Asp173Asn) http://identifiers.org/clinvar/240302 ^@ NM_006206.4(PDGFRA):c.1296G>A (p.Thr432=) http://identifiers.org/clinvar/237257 ^@ NM_000222.2(KIT):c.2234-8C>T http://identifiers.org/clinvar/236601 ^@ NM_000038.5(APC):c.4533C>T (p.Leu1511=) http://identifiers.org/clinvar/236651 ^@ NM_000038.5(APC):c.7915G>C (p.Glu2639Gln) http://identifiers.org/clinvar/242241 ^@ NM_198253.2(TERT):c.339G>A (p.Glu113=) http://identifiers.org/clinvar/239651 ^@ NM_004168.3(SDHA):c.1535G>A (p.Arg512Gln) http://identifiers.org/clinvar/239951 ^@ NM_004562.2(PRKN):c.1071C>G (p.Gly357=) http://identifiers.org/clinvar/241391 ^@ NM_021922.2(FANCE):c.1057C>G (p.Pro353Ala) http://identifiers.org/clinvar/238647 ^@ NM_001206927.1(DNAH8):c.4401G>A (p.Thr1467=) http://identifiers.org/clinvar/241841 ^@ NM_138694.3(PKHD1):c.1234-5C>T http://identifiers.org/clinvar/241091 ^@ NM_016203.3(PRKAG2):c.1201C>G (p.His401Asp) http://identifiers.org/clinvar/260051 ^@ NM_006846.3(SPINK5):c.2412C>T (p.Gly804=) http://identifiers.org/clinvar/261590 ^@ NM_022455.4(NSD1):c.5147-49A>C http://identifiers.org/clinvar/257361 ^@ NM_001080479.2(ARHGEF28):c.1862G>A (p.Arg621Gln) http://identifiers.org/clinvar/260451 ^@ NM_014845.5(FIG4):c.647-18C>A http://identifiers.org/clinvar/262190 ^@ NM_033071.3(SYNE1):c.24832+40T>C http://identifiers.org/clinvar/255622 ^@ NM_000255.3(MUT):c.363G>A (p.Lys121=) http://identifiers.org/clinvar/262390 ^@ NM_138694.3(PKHD1):c.1694-32C>G http://identifiers.org/clinvar/260501 ^@ NM_014989.5(RIMS1):c.743C>T (p.Ser248Leu) http://identifiers.org/clinvar/259350 ^@ NM_004370.5(COL12A1):c.8265+19A>T http://identifiers.org/clinvar/261340 ^@ NM_020632.2(ATP6V0A4):c.1033C>A (p.Leu345Ile) http://identifiers.org/clinvar/258800 ^@ NM_002769.4(PRSS1):c.592-11C>T http://identifiers.org/clinvar/259400 ^@ NM_004456.4(EZH2):c.*21delC http://identifiers.org/clinvar/257461 ^@ NM_001101426.3(ISPD):c.1026+45_1026+46delAT http://identifiers.org/clinvar/255422 ^@ NM_000168.5(GLI3):c.1393G>C (p.Gly465Arg) http://identifiers.org/clinvar/255172 ^@ NM_000127.2(EXT1):c.1431C>T (p.Pro477=) http://identifiers.org/clinvar/259200 ^@ NM_003923.2(FOXH1):c.47C>T (p.Ser16Leu) http://identifiers.org/clinvar/256711 ^@ NM_000553.4(WRN):c.725-9delT http://identifiers.org/clinvar/261290 ^@ NM_020476.2(ANK1):c.1484A>G (p.Asn495Ser) http://identifiers.org/clinvar/259801 ^@ NM_005592.3(MUSK):c.1586+26T>C http://identifiers.org/clinvar/260151 ^@ NM_007171.3(POMT1):c.766-48A>G http://identifiers.org/clinvar/262440 ^@ NM_139025.4(ADAMTS13):c.3045-48T>C http://identifiers.org/clinvar/255072 ^@ NM_000093.4(COL5A1):c.2845-37A>G http://identifiers.org/clinvar/261190 ^@ NM_019892.5(INPP5E):c.1280-11T>C http://identifiers.org/clinvar/262540 ^@ NM_144966.5(FREM1):c.4727A>T (p.Asn1576Ile) http://identifiers.org/clinvar/260201 ^@ NM_012144.3(DNAI1):c.180G>A (p.Ala60=) http://identifiers.org/clinvar/259550 ^@ NM_004817.3(TJP2):c.1063G>C (p.Gly355Arg) http://identifiers.org/clinvar/255272 ^@ NM_000136.2(FANCC):c.*42G>A http://identifiers.org/clinvar/255672 ^@ NM_000264.3(PTCH1):c.1728+16T>A http://identifiers.org/clinvar/260251 ^@ NM_012330.3(KAT6B):c.846+16G>A http://identifiers.org/clinvar/261990 ^@ NM_032024.4(C10orf11):c.280T>C (p.Leu94=) http://identifiers.org/clinvar/256811 ^@ NM_000795.3(DRD2):c.*16G>A http://identifiers.org/clinvar/257061 ^@ NM_001018080.1(FSHB):c.228C>T (p.Tyr76=) http://identifiers.org/clinvar/261240 ^@ NM_020376.3(PNPLA2):c.246C>A (p.Gly82=) http://identifiers.org/clinvar/261940 ^@ NM_030962.3(SBF2):c.4571-6C>T http://identifiers.org/clinvar/261790 ^@ NM_024809.4(TCTN2):c.615C>A (p.Gly205=) http://identifiers.org/clinvar/259901 ^@ NM_006009.3(TUBA1A):c.227-42T>C http://identifiers.org/clinvar/260351 ^@ NM_014191.3(SCN8A):c.2670C>T (p.Ala890=) http://identifiers.org/clinvar/256661 ^@ NM_000552.4(VWF):c.2546+25C>T http://identifiers.org/clinvar/261840 ^@ NM_025114.3(CEP290):c.2587-19T>C http://identifiers.org/clinvar/260401 ^@ NM_014363.5(SACS):c.909A>G (p.Ala303=) http://identifiers.org/clinvar/255822 ^@ NM_000321.2(RB1):c.2490-1323C>T http://identifiers.org/clinvar/261390 ^@ NM_020937.3(FANCM):c.5434C>G (p.Pro1812Ala) http://identifiers.org/clinvar/258850 ^@ NM_002863.4(PYGL):c.962G>A (p.Arg321His) http://identifiers.org/clinvar/257111 ^@ NM_001024858.2(SPTB):c.408C>T (p.His136=) http://identifiers.org/clinvar/260301 ^@ NM_013382.5(POMT2):c.439-45C>T http://identifiers.org/clinvar/261490 ^@ NM_022067.3(VIPAS39):c.598-25C>T http://identifiers.org/clinvar/255372 ^@ NM_000153.3(GALC):c.18C>G (p.Leu6=) http://identifiers.org/clinvar/256761 ^@ NM_000693.3(ALDH1A3):c.1233+8G>A http://identifiers.org/clinvar/255722 ^@ NM_000275.2(OCA2):c.1551C>T (p.Cys517=) http://identifiers.org/clinvar/254872 ^@ NM_000070.2(CAPN3):c.380-27C>T http://identifiers.org/clinvar/255872 ^@ NM_000338.2(SLC12A1):c.1614T>C (p.Tyr538=) http://identifiers.org/clinvar/332496 ^@ NM_002148.3(HOXD10):c.*219_*234dup16 http://identifiers.org/clinvar/335037 ^@ NM_002242.4(KCNJ13):c.*1482_*1484delAAA http://identifiers.org/clinvar/335087 ^@ NM_000463.2(UGT1A1):c.*585G>T http://identifiers.org/clinvar/335137 ^@ NM_004369.3(COL6A3):c.1996G>A (p.Val666Ile) http://identifiers.org/clinvar/333096 ^@ NM_000393.4(COL5A2):c.*1961T>C http://identifiers.org/clinvar/332796 ^@ NM_133378.4(TTN):c.60746G>A (p.Arg20249Gln) http://identifiers.org/clinvar/335187 ^@ NM_004544.3(NDUFA10):c.*740C>T http://identifiers.org/clinvar/332946 ^@ NM_133378.4(TTN):c.7403T>C (p.Val2468Ala) http://identifiers.org/clinvar/333246 ^@ NM_007315.3(STAT1):c.*1628A>G http://identifiers.org/clinvar/336087 ^@ NM_022437.2(ABCG8):c.1695C>T (p.Ala565=) http://identifiers.org/clinvar/333196 ^@ NM_000534.4(PMS1):c.-100G>T http://identifiers.org/clinvar/333296 ^@ NM_007315.3(STAT1):c.-213C>T http://identifiers.org/clinvar/333446 ^@ NM_032977.3(CASP10):c.*277G>A http://identifiers.org/clinvar/335887 ^@ NM_014946.3(SPAST):c.*2779G>A http://identifiers.org/clinvar/335937 ^@ NM_000104.3(CYP1B1):c.*879delA http://identifiers.org/clinvar/336187 ^@ NM_000341.3(SLC3A1):c.303C>T (p.Ile101=) http://identifiers.org/clinvar/334287 ^@ NM_014140.3(SMARCAL1):c.-82T>C http://identifiers.org/clinvar/342384 ^@ NM_033084.4(FANCD2):c.*122C>T http://identifiers.org/clinvar/342284 ^@ NM_016247.3(IMPG2):c.*3235C>A http://identifiers.org/clinvar/342334 ^@ NM_016247.3(IMPG2):c.3561C>T (p.Ser1187=) http://identifiers.org/clinvar/334437 ^@ NM_002181.3(IHH):c.819C>T (p.Pro273=) http://identifiers.org/clinvar/334687 ^@ NM_000092.4(COL4A4):c.*833C>T http://identifiers.org/clinvar/334487 ^@ NM_015311.2(OBSL1):c.4032C>G (p.Pro1344=) http://identifiers.org/clinvar/342534 ^@ NM_198196.2(CD96):c.1014A>G (p.Thr338=) http://identifiers.org/clinvar/334537 ^@ NM_015311.2(OBSL1):c.96G>A (p.Lys32=) http://identifiers.org/clinvar/334737 ^@ NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) http://identifiers.org/clinvar/334787 ^@ NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) http://identifiers.org/clinvar/335237 ^@ NM_004321.7(KIF1A):c.*1686G>C http://identifiers.org/clinvar/334887 ^@ NM_004509.3(SP110):c.*204A>T http://identifiers.org/clinvar/334937 ^@ NM_152383.4(DIS3L2):c.1317+15C>G http://identifiers.org/clinvar/335387 ^@ NM_000182.4(HADHA):c.454-13C>T http://identifiers.org/clinvar/334987 ^@ NM_000751.2(CHRND):c.*623_*627dupAATCC http://identifiers.org/clinvar/335487 ^@ NM_000221.2(KHK):c.288C>G (p.Ile96Met) http://identifiers.org/clinvar/343373 ^@ NM_153240.4(NPHP3):c.*46A>G http://identifiers.org/clinvar/343423 ^@ NM_001063.3(TF):c.60C>T (p.Val20=) http://identifiers.org/clinvar/343523 ^@ NM_024334.2(TMEM43):c.*779A>C http://identifiers.org/clinvar/335287 ^@ NM_004321.7(KIF1A):c.69C>T (p.Asp23=) http://identifiers.org/clinvar/343573 ^@ NM_004628.4(XPC):c.1268G>A (p.Arg423Gln) http://identifiers.org/clinvar/343773 ^@ NM_000096.3(CP):c.1217C>A (p.Ala406Glu) http://identifiers.org/clinvar/343923 ^@ NM_024996.5(GFM1):c.373G>A (p.Val125Met) http://identifiers.org/clinvar/335587 ^@ NM_001029883.2(C2orf71):c.*2293G>C http://identifiers.org/clinvar/343073 ^@ NM_025265.3(TSEN2):c.680C>T (p.Ala227Val) http://identifiers.org/clinvar/335637 ^@ NM_001029883.2(C2orf71):c.3673_3675dupAGC (p.Ser1225_Glu1226insSer) http://identifiers.org/clinvar/344023 ^@ NM_001041.3(SI):c.3836C>T (p.Pro1279Leu) http://identifiers.org/clinvar/335687 ^@ NM_004304.4(ALK):c.4596C>T (p.Asn1532=) http://identifiers.org/clinvar/343223 ^@ NM_000174.4(GP9):c.533G>A (p.Ter178=) http://identifiers.org/clinvar/344073 ^@ NM_001041.3(SI):c.374-11delT http://identifiers.org/clinvar/335737 ^@ NM_000379.3(XDH):c.*1477A>G http://identifiers.org/clinvar/336137 ^@ NM_133259.3(LRPPRC):c.*534G>T http://identifiers.org/clinvar/343273 ^@ NM_000539.3(RHO):c.48G>A (p.Ala16=) http://identifiers.org/clinvar/354939 ^@ NM_014028.3(OSTM1):c.*2370dupA http://identifiers.org/clinvar/355190 ^@ NM_006073.3(TRDN):c.*1946G>T http://identifiers.org/clinvar/355290 ^@ NM_000426.3(LAMA2):c.6667A>G (p.Thr2223Ala) http://identifiers.org/clinvar/358718 ^@ NM_001127500.2(MET):c.*1460C>G http://identifiers.org/clinvar/351752 ^@ NM_024577.3(SH3TC2):c.*8438_*8439delCT http://identifiers.org/clinvar/351802 ^@ NM_024577.3(SH3TC2):c.*5747C>T http://identifiers.org/clinvar/359018 ^@ NM_020632.2(ATP6V0A4):c.1181-4G>A http://identifiers.org/clinvar/351652 ^@ NM_024577.3(SH3TC2):c.*15235A>G http://identifiers.org/clinvar/351702 ^@ NM_024577.3(SH3TC2):c.*10875T>C http://identifiers.org/clinvar/356029 ^@ NM_003730.4(RNASET2):c.648G>A (p.Pro216=) http://identifiers.org/clinvar/352002 ^@ NM_000440.2(PDE6A):c.384C>T (p.Pro128=) http://identifiers.org/clinvar/359268 ^@ NM_014141.5(CNTNAP2):c.*4708A>T http://identifiers.org/clinvar/352050 ^@ NM_000112.3(SLC26A2):c.*1427G>A http://identifiers.org/clinvar/351902 ^@ NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) http://identifiers.org/clinvar/352100 ^@ NM_005211.3(CSF1R):c.*769A>G http://identifiers.org/clinvar/359618 ^@ NM_001277115.1(DNAH11):c.2824C>A (p.Pro942Thr) http://identifiers.org/clinvar/359668 ^@ NM_001277115.1(DNAH11):c.9773A>G (p.Tyr3258Cys) http://identifiers.org/clinvar/356479 ^@ NM_182548.3(LHFPL5):c.-335A>G http://identifiers.org/clinvar/356779 ^@ NM_000322.4(PRPH2):c.252C>T (p.Asp84=) http://identifiers.org/clinvar/356829 ^@ NM_014780.4(CUL7):c.3416T>C (p.Ile1139Thr) http://identifiers.org/clinvar/356929 ^@ NM_006502.2(POLH):c.*954C>T http://identifiers.org/clinvar/357279 ^@ NM_003221.3(TFAP2B):c.670G>A (p.Val224Ile) http://identifiers.org/clinvar/353389 ^@ NM_133433.3(NIPBL):c.7843G>C (p.Val2615Leu) http://identifiers.org/clinvar/353889 ^@ NM_002495.3(NDUFS4):c.178-4G>C http://identifiers.org/clinvar/306463 ^@ NM_005591.3(MRE11):c.*1366G>A http://identifiers.org/clinvar/306513 ^@ NM_016156.5(MTMR2):c.*1425A>G http://identifiers.org/clinvar/364016 ^@ NM_001001557.3(GDF6):c.*891G>A http://identifiers.org/clinvar/364416 ^@ NM_005502.3(ABCA1):c.3516G>C (p.Glu1172Asp) http://identifiers.org/clinvar/307013 ^@ NM_052845.3(MMAB):c.*2628C>T http://identifiers.org/clinvar/307063 ^@ NM_052845.3(MMAB):c.*374_*379dupTGTGTG http://identifiers.org/clinvar/307163 ^@ NM_001681.3(ATP2A2):c.219+15delA http://identifiers.org/clinvar/364616 ^@ NM_005592.3(MUSK):c.2393A>G (p.Tyr798Cys) http://identifiers.org/clinvar/364666 ^@ NM_000031.5(ALAD):c.-156C>A http://identifiers.org/clinvar/364466 ^@ NM_005502.3(ABCA1):c.99A>G (p.Leu33=) http://identifiers.org/clinvar/364716 ^@ NM_012210.3(TRIM32):c.69C>T (p.Cys23=) http://identifiers.org/clinvar/307613 ^@ NM_012463.3(ATP6V0A2):c.*1454A>G http://identifiers.org/clinvar/364566 ^@ NM_003640.4(IKBKAP):c.2598C>T (p.Pro866=) http://identifiers.org/clinvar/307663 ^@ NM_004064.4(CDKN1B):c.326T>A (p.Val109Asp) http://identifiers.org/clinvar/365016 ^@ NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) http://identifiers.org/clinvar/365066 ^@ NM_003165.3(STXBP1):c.*1422G>A http://identifiers.org/clinvar/364916 ^@ NM_002316.3(LMX1B):c.*1063T>A http://identifiers.org/clinvar/365116 ^@ NM_003863.3(DPM2):c.-88C>T http://identifiers.org/clinvar/365166 ^@ NM_001130438.2(SPTAN1):c.4045C>T (p.Arg1349Trp) http://identifiers.org/clinvar/364966 ^@ NM_002316.3(LMX1B):c.*3338C>G http://identifiers.org/clinvar/364866 ^@ NM_000550.2(TYRP1):c.*458A>G http://identifiers.org/clinvar/308652 ^@ NM_198578.3(LRRK2):c.*131delT http://identifiers.org/clinvar/365666 ^@ NM_000787.3(DBH):c.1557C>T (p.Ile519=) http://identifiers.org/clinvar/365266 ^@ NM_054012.3(ASS1):c.*129C>T http://identifiers.org/clinvar/308902 ^@ NM_001844.4(COL2A1):c.*4C>T http://identifiers.org/clinvar/365316 ^@ NM_015046.5(SETX):c.*1433A>T http://identifiers.org/clinvar/365716 ^@ NM_000093.4(COL5A1):c.2331+15C>T http://identifiers.org/clinvar/309002 ^@ NM_003482.3(KMT2D):c.15120C>T (p.Asp5040=) http://identifiers.org/clinvar/301719 ^@ NM_016341.3(PLCE1):c.4341G>A (p.Met1447Ile) http://identifiers.org/clinvar/309052 ^@ NM_003482.3(KMT2D):c.6585C>T (p.Thr2195=) http://identifiers.org/clinvar/365416 ^@ NM_000368.4(TSC1):c.*3565C>T http://identifiers.org/clinvar/365466 ^@ NM_000368.4(TSC1):c.*1934A>G http://identifiers.org/clinvar/365917 ^@ NM_006412.3(AGPAT2):c.783G>A (p.Lys261=) http://identifiers.org/clinvar/365516 ^@ NM_000368.4(TSC1):c.2209-3T>C http://identifiers.org/clinvar/298420 ^@ NM_004376.6(COX15):c.131G>A (p.Ser44Asn) http://identifiers.org/clinvar/365766 ^@ NM_000093.4(COL5A1):c.*948C>G http://identifiers.org/clinvar/309702 ^@ NM_002272.3(KRT4):c.364C>G (p.Leu122Val) http://identifiers.org/clinvar/309802 ^@ NM_002206.2(ITGA7):c.51C>T (p.Tyr17=) http://identifiers.org/clinvar/309902 ^@ NM_005379.3(MYO1A):c.2498G>A (p.Arg833Gln) http://identifiers.org/clinvar/366506 ^@ NM_001256054.2(C9orf72):c.1426G>C (p.Asp476His) http://identifiers.org/clinvar/302558 ^@ NM_001558.3(IL10RA):c.1323G>A (p.Val441=) http://identifiers.org/clinvar/366606 ^@ NM_001497.3(B4GALT1):c.*2404dupG http://identifiers.org/clinvar/302608 ^@ NM_174934.3(SCN4B):c.*1842G>C http://identifiers.org/clinvar/366656 ^@ NM_001497.3(B4GALT1):c.960-12T>C http://identifiers.org/clinvar/366706 ^@ NM_007126.3(VCP):c.*700C>A http://identifiers.org/clinvar/306613 ^@ NM_018979.3(WNK1):c.5943T>G (p.Phe1981Leu) http://identifiers.org/clinvar/306713 ^@ NM_018979.3(WNK1):c.*2090T>C http://identifiers.org/clinvar/366456 ^@ NM_000459.4(TEK):c.3315C>T (p.Thr1105=) http://identifiers.org/clinvar/310896 ^@ NM_004115.3(FGF14):c.636T>C (p.His212=) http://identifiers.org/clinvar/311046 ^@ NM_001845.5(COL4A1):c.2968+12A>G http://identifiers.org/clinvar/321920 ^@ NM_006445.3(PRPF8):c.360C>T (p.Tyr120=) http://identifiers.org/clinvar/322120 ^@ NM_016239.3(MYO15A):c.1634C>T (p.Ala545Val) http://identifiers.org/clinvar/322270 ^@ NM_000430.3(PAFAH1B1):c.*588T>C http://identifiers.org/clinvar/314745 ^@ NM_000153.3(GALC):c.1731C>T (p.Phe577=) http://identifiers.org/clinvar/314795 ^@ NM_198309.3(TTC8):c.-44C>T http://identifiers.org/clinvar/341084 ^@ NM_000268.3(NF2):c.*335C>T http://identifiers.org/clinvar/322820 ^@ NM_004937.2(CTNS):c.-364G>T http://identifiers.org/clinvar/322870 ^@ NM_004937.2(CTNS):c.*1024_*1030delCAAAGCTinsTGAAGCTGTC http://identifiers.org/clinvar/315345 ^@ NM_144599.4(NIPA1):c.*4792G>T http://identifiers.org/clinvar/315495 ^@ NM_002420.5(TRPM1):c.4220T>C (p.Ile1407Thr) http://identifiers.org/clinvar/342084 ^@ NM_015166.3(MLC1):c.*1306G>A http://identifiers.org/clinvar/342234 ^@ NM_000487.5(ARSA):c.1258A>C (p.Ser420Arg) http://identifiers.org/clinvar/368235 ^@ NM_004006.2(DMD):c.8888T>C (p.Val2963Ala) http://identifiers.org/clinvar/368285 ^@ NM_001039891.2(ZNF674):c.*1562A>G http://identifiers.org/clinvar/368335 ^@ NM_003334.3(UBA1):c.1296C>T (p.Leu432=) http://identifiers.org/clinvar/314495 ^@ NM_004452.3(ESRRB):c.*604C>T http://identifiers.org/clinvar/316934 ^@ NM_005902.3(SMAD3):c.*2282C>T http://identifiers.org/clinvar/314895 ^@ NM_004239.4(TRIP11):c.*1554T>A http://identifiers.org/clinvar/317034 ^@ NM_000520.5(HEXA):c.*575G>A http://identifiers.org/clinvar/317134 ^@ NM_000781.2(CYP11A1):c.86G>A (p.Arg29His) http://identifiers.org/clinvar/315095 ^@ NM_177438.2(DICER1):c.*433G>T http://identifiers.org/clinvar/315545 ^@ NM_133647.1(SLC12A6):c.*3668T>A http://identifiers.org/clinvar/317635 ^@ NM_000875.4(IGF1R):c.*6232G>A http://identifiers.org/clinvar/315145 ^@ NM_139057.3(ADAMTS17):c.*2355G>C http://identifiers.org/clinvar/317685 ^@ NM_000246.3(CIITA):c.773-11C>T http://identifiers.org/clinvar/317835 ^@ NM_005236.2(ERCC4):c.*726G>C http://identifiers.org/clinvar/325728 ^@ NM_017950.3(CCDC40):c.1221C>T (p.Ile407=) http://identifiers.org/clinvar/325829 ^@ NM_000199.3(SGSH):c.1318G>A (p.Asp440Asn) http://identifiers.org/clinvar/325879 ^@ NM_001139.2(ALOX12B):c.1413G>A (p.Leu471=) http://identifiers.org/clinvar/372079 ^@ NM_020975.4(RET):c.2116G>A (p.Val706Met) http://identifiers.org/clinvar/374850 ^@ NM_004644.4(AP3B2):c.199C>T (p.Arg67Ter) http://identifiers.org/clinvar/374907 ^@ NM_017909.3(RMND1):c.1003delG (p.Ala335Leufs) http://identifiers.org/clinvar/374967 ^@ NM_001005242.2(PKP2):c.953A>C (p.His318Pro) http://identifiers.org/clinvar/375242 ^@ NM_000051.3(ATM):c.1192delG (p.Asp398Ilefs) http://identifiers.org/clinvar/381391 ^@ NM_014049.4(ACAD9):c.808+20G>A http://identifiers.org/clinvar/387975 ^@ NM_018297.3(NGLY1):c.1003+15A>C http://identifiers.org/clinvar/385636 ^@ NM_024592.4(SRD5A3):c.365-6T>C http://identifiers.org/clinvar/378290 ^@ NM_001135659.2(NRXN1):c.2229C>T (p.Ser743=) http://identifiers.org/clinvar/379248 ^@ NM_000038.5(APC):c.-30471A>C http://identifiers.org/clinvar/385986 ^@ NM_024582.4(FAT4):c.12846C>T (p.Ser4282=) http://identifiers.org/clinvar/385586 ^@ NM_015929.3(LIPT1):c.613A>G (p.Thr205Ala) http://identifiers.org/clinvar/378948 ^@ NM_000038.5(APC):c.4683G>A (p.Lys1561=) http://identifiers.org/clinvar/391874 ^@ NM_001999.3(FBN2):c.3116A>T (p.Glu1039Val) http://identifiers.org/clinvar/385186 ^@ NM_023073.3(C5orf42):c.9292G>A (p.Gly3098Arg) http://identifiers.org/clinvar/385086 ^@ NM_032446.2(MEGF10):c.807C>T (p.Pro269=) http://identifiers.org/clinvar/379698 ^@ NM_020166.4(MCCC1):c.168C>G (p.Asn56Lys) http://identifiers.org/clinvar/380049 ^@ NM_002887.3(RARS):c.-45C>A http://identifiers.org/clinvar/380099 ^@ NM_052859.3(RFT1):c.267-20A>T http://identifiers.org/clinvar/381091 ^@ NM_004333.4(BRAF):c.1518-7T>C http://identifiers.org/clinvar/377397 ^@ NM_020745.3(AARS2):c.1558C>T (p.Leu520=) http://identifiers.org/clinvar/384836 ^@ NM_018341.2(ERMARD):c.9A>C (p.Val3=) http://identifiers.org/clinvar/379098 ^@ NM_004453.3(ETFDH):c.1468+10A>G http://identifiers.org/clinvar/380149 ^@ NM_001167734.1(VARS2):c.111C>T (p.Ala37=) http://identifiers.org/clinvar/393113 ^@ NM_006859.3(LIAS):c.757G>C (p.Ala253Pro) http://identifiers.org/clinvar/392963 ^@ NM_005045.3(RELN):c.185C>T (p.Ala62Val) http://identifiers.org/clinvar/391474 ^@ NM_000535.6(PMS2):c.1145-20C>T http://identifiers.org/clinvar/387175 ^@ NM_004415.3(DSP):c.1308G>A (p.Gln436=) http://identifiers.org/clinvar/387625 ^@ NM_000038.5(APC):c.5736T>G (p.Ala1912=) http://identifiers.org/clinvar/387325 ^@ NM_000445.4(PLEC):c.4935C>T (p.Ala1645=) http://identifiers.org/clinvar/381441 ^@ NM_000290.3(PGAM2):c.-50T>G http://identifiers.org/clinvar/393213 ^@ NM_017780.3(CHD7):c.4026C>T (p.Gly1342=) http://identifiers.org/clinvar/384986 ^@ NM_006294.4(UQCRB):c.19+13G>C http://identifiers.org/clinvar/384936 ^@ NM_000806.5(GABRA1):c.414C>T (p.Asn138=) http://identifiers.org/clinvar/387725 ^@ NM_006265.2(RAD21):c.268C>T (p.Arg90Trp) http://identifiers.org/clinvar/384636 ^@ NM_020822.2(KCNT1):c.601-13C>G http://identifiers.org/clinvar/387875 ^@ NM_020822.2(KCNT1):c.3027+14G>A http://identifiers.org/clinvar/379849 ^@ NM_001130438.2(SPTAN1):c.603T>C (p.His201=) http://identifiers.org/clinvar/379798 ^@ NM_006294.4(UQCRB):c.279G>A (p.Pro93=) http://identifiers.org/clinvar/379598 ^@ NM_000050.4(ASS1):c.566+1G>T http://identifiers.org/clinvar/380991 ^@ NM_138361.5(LRSAM1):c.-19G>A http://identifiers.org/clinvar/381842 ^@ NM_000136.2(FANCC):c.1305G>C (p.Gly435=) http://identifiers.org/clinvar/391374 ^@ NM_000108.4(DLD):c.1395T>C (p.Asn465=) http://identifiers.org/clinvar/386186 ^@ NM_002291.2(LAMB1):c.4929C>T (p.Asn1643=) http://identifiers.org/clinvar/380840 ^@ NM_002291.2(LAMB1):c.2578G>A (p.Gly860Ser) http://identifiers.org/clinvar/134781 ^@ NM_170606.2(KMT2C):c.7958T>C (p.Leu2653Pro) http://identifiers.org/clinvar/184660 ^@ NM_002878.3(RAD51D):c.204C>A (p.Gly68=) http://identifiers.org/clinvar/185060 ^@ NM_007294.3(BRCA1):c.1702C>T (p.Pro568Ser) http://identifiers.org/clinvar/185210 ^@ NM_000455.4(STK11):c.409C>A (p.Gln137Lys) http://identifiers.org/clinvar/183920 ^@ NM_000455.4(STK11):c.1170G>A (p.Val390=) http://identifiers.org/clinvar/185110 ^@ NM_007194.3(CHEK2):c.846+5G>T http://identifiers.org/clinvar/187944 ^@ NM_004409.4(DMPK):c.*224_*226[238] http://identifiers.org/clinvar/187994 ^@ NM_004409.4(DMPK):c.*224_*226[505] http://identifiers.org/clinvar/188514 ^@ NM_000251.2(MSH2):c.793-1_796delGGTTGinsAAATTAAGA http://identifiers.org/clinvar/188464 ^@ NM_004415.3(DSP):c.3134G>C (p.Arg1045Pro) http://identifiers.org/clinvar/188564 ^@ NM_000256.3(MYBPC3):c.2200A>G (p.Ser734Gly) http://identifiers.org/clinvar/188664 ^@ NM_004572.3(PKP2):c.2464A>G (p.Ile822Val) http://identifiers.org/clinvar/188614 ^@ NM_000257.3(MYH7):c.2162+9G>A http://identifiers.org/clinvar/188413 ^@ NM_007294.3(BRCA1):c.4358_4484del127 (p.Ala1453Glyfs) http://identifiers.org/clinvar/188764 ^@ NM_000228.2(LAMB3):c.1705C>T (p.Arg569Ter) http://identifiers.org/clinvar/189016 ^@ NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) http://identifiers.org/clinvar/188864 ^@ NM_001287174.1(ABCC8):c.2800C>T (p.Arg934Ter) http://identifiers.org/clinvar/188915 ^@ NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) http://identifiers.org/clinvar/188814 ^@ NM_000053.3(ATP7B):c.2383C>T (p.Leu795Phe) http://identifiers.org/clinvar/189166 ^@ NM_000520.5(HEXA):c.1123delG (p.Glu375Argfs) http://identifiers.org/clinvar/188965 ^@ NM_000303.2(PMM2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/188714 ^@ NM_004937.2(CTNS):c.926dupG (p.Ser310Glnfs) http://identifiers.org/clinvar/189116 ^@ NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs) http://identifiers.org/clinvar/189066 ^@ NM_000159.3(GCDH):c.1239C>A (p.Tyr413Ter) http://identifiers.org/clinvar/189232 ^@ NM_000218.2(KCNQ1):c.826delT (p.Ser276Profs) http://identifiers.org/clinvar/189284 ^@ NM_014795.3(ZEB2):c.3068-?_(*5076_?)del http://identifiers.org/clinvar/189343 ^@ NM_177405.2(ADA2):c.424G>A (p.Gly142Ser) http://identifiers.org/clinvar/189434 ^@ NM_000314.6(PTEN):c.-1135_-1134insT http://identifiers.org/clinvar/189496 ^@ NM_000314.6(PTEN):c.-861G>C http://identifiers.org/clinvar/189606 ^@ NM_005249.4(FOXG1):c.159_161dupCCA (p.His57_Pro58insHis) http://identifiers.org/clinvar/189706 ^@ NM_004992.3(MECP2):c.(?_378)_(1337_?)del (p.(?)) http://identifiers.org/clinvar/189656 ^@ NM_001110792.1(MECP2):c.1165_*568delinsCCGTGG http://identifiers.org/clinvar/189756 ^@ NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?) http://identifiers.org/clinvar/189556 ^@ NM_003159.2(CDKL5):c.1375C>T (p.Gln459Ter) http://identifiers.org/clinvar/189840 ^@ NM_003001.3(SDHC):c.6delT (p.Ala3Argfs) http://identifiers.org/clinvar/189890 ^@ NM_001165963.1(SCN1A):c.4338+4A>C http://identifiers.org/clinvar/189990 ^@ NM_001165963.1(SCN1A):c.4055T>C (p.Leu1352Pro) http://identifiers.org/clinvar/189940 ^@ NM_001165963.1(SCN1A):c.1182_1183insA (p.Ala395Serfs) http://identifiers.org/clinvar/229171 ^@ NM_016203.3(PRKAG2):c.137C>T (p.Pro46Leu) http://identifiers.org/clinvar/227670 ^@ NM_017433.4(MYO3A):c.4073G>A (p.Arg1358Gln) http://identifiers.org/clinvar/227720 ^@ NM_032578.3(MYPN):c.3582C>T (p.Arg1194=) http://identifiers.org/clinvar/226499 ^@ NM_022124.5(CDH23):c.8120_8121delCGinsTT (p.Pro2707Leu) http://identifiers.org/clinvar/226899 ^@ NM_001277269.1(OTOG):c.5804T>C (p.Met1935Thr) http://identifiers.org/clinvar/228371 ^@ NM_000256.3(MYBPC3):c.3512delA (p.Asn1171Thrfs) http://identifiers.org/clinvar/228571 ^@ NM_019887.5(DIABLO):c.19T>A (p.Trp7Arg) http://identifiers.org/clinvar/229121 ^@ NM_173591.3(OTOGL):c.789A>G (p.Gln263=) http://identifiers.org/clinvar/226749 ^@ NM_002471.3(MYH6):c.4359+8A>C http://identifiers.org/clinvar/228921 ^@ NM_000257.3(MYH7):c.-7C>A http://identifiers.org/clinvar/229271 ^@ NC_000015.10:g.(?_43607863)_(43609334_?)dup http://identifiers.org/clinvar/228421 ^@ NM_001089.2(ABCA3):c.839G>A (p.Arg280His) http://identifiers.org/clinvar/228321 ^@ NM_001089.2(ABCA3):c.128G>A (p.Arg43His) http://identifiers.org/clinvar/228971 ^@ NM_016239.3(MYO15A):c.9025C>T (p.Pro3009Ser) http://identifiers.org/clinvar/228621 ^@ NM_004949.4(DSC2):c.-113C>A http://identifiers.org/clinvar/229021 ^@ NM_003803.3(MYOM1):c.3278C>T (p.Ala1093Val) http://identifiers.org/clinvar/226799 ^@ NM_003803.3(MYOM1):c.1338C>T (p.Asn446=) http://identifiers.org/clinvar/228821 ^@ NM_144612.6(LOXHD1):c.2874_2891dup18 (p.Ser965_Glu966insSerGluGluSerSerSer) http://identifiers.org/clinvar/228871 ^@ NM_001145809.1(MYH14):c.1919G>A (p.Arg640Gln) http://identifiers.org/clinvar/226549 ^@ NM_000395.2(CSF2RB):c.1944A>G (p.Pro648=) http://identifiers.org/clinvar/229371 ^@ NM_144991.2(TSPEAR):c.131C>T (p.Ala44Val) http://identifiers.org/clinvar/234850 ^@ NM_000179.2(MSH6):c.2869A>G (p.Lys957Glu) http://identifiers.org/clinvar/234749 ^@ NM_001999.3(FBN2):c.8692G>T (p.Glu2898Ter) http://identifiers.org/clinvar/234900 ^@ NM_000314.6(PTEN):c.-1144A>C http://identifiers.org/clinvar/234799 ^@ NM_004360.4(CDH1):c.337A>G (p.Lys113Glu) http://identifiers.org/clinvar/234699 ^@ NM_016492.4(RANGRF):c.194+1G>A http://identifiers.org/clinvar/234549 ^@ NM_000455.4(STK11):c.25C>G (p.Leu9Val) http://identifiers.org/clinvar/234649 ^@ NM_000455.4(STK11):c.375-10A>G http://identifiers.org/clinvar/234599 ^@ NM_007194.3(CHEK2):c.206A>G (p.Gln69Arg) http://identifiers.org/clinvar/231212 ^@ NM_007194.3(CHEK2):c.-3G>C http://identifiers.org/clinvar/231412 ^@ NM_001128425.1(MUTYH):c.71G>A (p.Ser24Asn) http://identifiers.org/clinvar/230212 ^@ NM_000465.3(BARD1):c.1973G>A (p.Arg658His) http://identifiers.org/clinvar/232012 ^@ NM_000465.3(BARD1):c.82C>T (p.Pro28Ser) http://identifiers.org/clinvar/231062 ^@ NM_000251.2(MSH2):c.320C>G (p.Ala107Gly) http://identifiers.org/clinvar/230562 ^@ NM_000251.2(MSH2):c.1489A>G (p.Ile497Val) http://identifiers.org/clinvar/231012 ^@ NM_000179.2(MSH6):c.1899T>C (p.Thr633=) http://identifiers.org/clinvar/264087 ^@ NM_000363.4(TNNI3):c.88G>A (p.Ala30Thr) http://identifiers.org/clinvar/267286 ^@ NM_000339.2(SLC12A3):c.1919A>G (p.Asn640Ser) http://identifiers.org/clinvar/266705 ^@ NM_000059.3(BRCA2):c.250delC (p.Gln84Lysfs) http://identifiers.org/clinvar/266905 ^@ NM_000059.3(BRCA2):c.594_598dupAGCTA (p.Thr200Lysfs) http://identifiers.org/clinvar/266755 ^@ NM_000059.3(BRCA2):c.3502dupA (p.Met1168Asnfs) http://identifiers.org/clinvar/266805 ^@ NM_000059.3(BRCA2):c.4334_4338delAAATT (p.Lys1445Serfs) http://identifiers.org/clinvar/266855 ^@ NM_000059.3(BRCA2):c.5160_5168delAAACAGTACinsTACAA (p.Asn1721Thrfs) http://identifiers.org/clinvar/266955 ^@ NM_000059.3(BRCA2):c.6514_6515delTC (p.Ser2172Thrfs) http://identifiers.org/clinvar/267005 ^@ NM_000059.3(BRCA2):c.7368_7371delGTTT (p.Phe2457Thrfs) http://identifiers.org/clinvar/267055 ^@ NM_000059.3(BRCA2):c.8113dupA (p.Ser2705Lysfs) http://identifiers.org/clinvar/267105 ^@ NM_000059.3(BRCA2):c.8760T>G (p.Tyr2920Ter) http://identifiers.org/clinvar/267155 ^@ NM_000059.3(BRCA2):c.9352_9353insAT (p.Met3118Asnfs) http://identifiers.org/clinvar/267224 ^@ NM_000059.3(BRCA2):c.5298T>A (p.Asn1766Lys) http://identifiers.org/clinvar/267357 ^@ NM_001005463.2(EBF3):c.577A>G (p.Lys193Glu) http://identifiers.org/clinvar/267426 ^@ NM_017780.3(CHD7):c.3572_3573delAA (p.Lys1191Argfs) http://identifiers.org/clinvar/267662 ^@ NM_000059.3(BRCA2):c.6896dupA (p.Asn2299Lysfs) http://identifiers.org/clinvar/267712 ^@ NM_000059.3(BRCA2):c.8954-5A>G http://identifiers.org/clinvar/267612 ^@ NM_007294.3(BRCA1):c.671-?_4185+?del http://identifiers.org/clinvar/267562 ^@ NM_007294.3(BRCA1):c.4986+5G>C http://identifiers.org/clinvar/267512 ^@ NM_007294.3(BRCA1):c.212G>C (p.Arg71Thr) http://identifiers.org/clinvar/267791 ^@ NM_006087.3(TUBB4A):c.1163T>C (p.M388T) http://identifiers.org/clinvar/267842 ^@ 46;X;t(X;11)(p11.2;q23.3)dn http://identifiers.org/clinvar/267892 ^@ 46;XX;t(4;14)(p15.2;q13)dn http://identifiers.org/clinvar/267942 ^@ 46;XY;t(1;14)(q42;q13) http://identifiers.org/clinvar/267992 ^@ 46;XY;t(5;18)(q33.3;q21.2)dn http://identifiers.org/clinvar/268042 ^@ 46;XY;t(18;20)(q21.1;p11;23)dn http://identifiers.org/clinvar/268107 ^@ NM_181789.2(GLDN):c.1240C>T (p.Arg414Ter) http://identifiers.org/clinvar/268171 ^@ NM_005993.4(TBCD):c.3365C>T (p.Pro1122Leu) http://identifiers.org/clinvar/279588 ^@ NM_000238.3(KCNH2):c.1238T>G (p.Leu413Arg) http://identifiers.org/clinvar/280908 ^@ NM_015100.3(POGZ):c.2520_2521delCA (p.His840Glnfs) http://identifiers.org/clinvar/291892 ^@ NM_013319.2(UBIAD1):c.*1167C>T http://identifiers.org/clinvar/291942 ^@ NM_002524.4(NRAS):c.*3384C>T http://identifiers.org/clinvar/292392 ^@ NM_014874.3(MFN2):c.*870C>T http://identifiers.org/clinvar/292142 ^@ NM_001232.3(CASQ2):c.-219_-218insCGTGTG http://identifiers.org/clinvar/291992 ^@ NM_002506.2(NGF):c.196C>A (p.Gln66Lys) http://identifiers.org/clinvar/292442 ^@ NM_005266.6(GJA5):c.*520A>T http://identifiers.org/clinvar/292542 ^@ NM_019032.5(ADAMTSL4):c.1893G>A (p.Pro631=) http://identifiers.org/clinvar/292042 ^@ NM_138959.2(VANGL1):c.*1749G>T http://identifiers.org/clinvar/292242 ^@ NM_005957.4(MTHFR):c.813G>A (p.Leu271=) http://identifiers.org/clinvar/292592 ^@ NM_000449.3(RFX5):c.*1520_*1521insATT http://identifiers.org/clinvar/292642 ^@ NM_152263.3(TPM3):c.*4513G>A http://identifiers.org/clinvar/292092 ^@ NM_138959.2(VANGL1):c.*5466G>A http://identifiers.org/clinvar/292492 ^@ NM_004698.2(PRPF3):c.-143_-141dupCGG http://identifiers.org/clinvar/292792 ^@ NM_000298.5(PKLR):c.*1040G>A http://identifiers.org/clinvar/292192 ^@ NM_005957.4(MTHFR):c.*2594C>T http://identifiers.org/clinvar/292892 ^@ NM_001012331.1(NTRK1):c.1790C>G (p.Ser597Cys) http://identifiers.org/clinvar/292742 ^@ NM_001111.4(ADAR):c.*519_*520delAG http://identifiers.org/clinvar/293142 ^@ NM_000702.3(ATP1A2):c.*175C>T http://identifiers.org/clinvar/292342 ^@ NM_000302.3(PLOD1):c.1818C>A (p.Ile606=) http://identifiers.org/clinvar/293342 ^@ NM_003001.3(SDHC):c.*1190T>A http://identifiers.org/clinvar/293042 ^@ NM_003126.2(SPTA1):c.1309G>A (p.Val437Met) http://identifiers.org/clinvar/293092 ^@ NM_002241.4(KCNJ10):c.*2016_*2019dupGTGT http://identifiers.org/clinvar/292692 ^@ NM_152263.3(TPM3):c.*61C>A http://identifiers.org/clinvar/292842 ^@ NM_022367.3(SEMA4A):c.-64A>G http://identifiers.org/clinvar/293792 ^@ NM_022089.3(ATP13A2):c.1314C>A (p.Leu438=) http://identifiers.org/clinvar/292992 ^@ NM_003126.2(SPTA1):c.3660T>C (p.Ala1220=) http://identifiers.org/clinvar/293692 ^@ NM_006894.5(FMO3):c.889G>T (p.Val297Leu) http://identifiers.org/clinvar/292942 ^@ NM_003126.2(SPTA1):c.6851A>G (p.Asp2284Gly) http://identifiers.org/clinvar/293192 ^@ NM_002857.3(PEX19):c.*2555T>G http://identifiers.org/clinvar/293242 ^@ NM_000309.3(PPOX):c.-90G>T http://identifiers.org/clinvar/293292 ^@ NM_001643.1(APOA2):c.186-4C>T http://identifiers.org/clinvar/293392 ^@ NM_004431.4(EPHA2):c.*668G>T http://identifiers.org/clinvar/294631 ^@ NM_018136.4(ASPM):c.4214G>C (p.Arg1405Pro) http://identifiers.org/clinvar/293592 ^@ NM_000130.4(F5):c.4972-14A>C http://identifiers.org/clinvar/294681 ^@ NM_201253.2(CRB1):c.2715G>A (p.Arg905=) http://identifiers.org/clinvar/293642 ^@ NM_000130.4(F5):c.158+13T>C http://identifiers.org/clinvar/294781 ^@ NM_000069.2(CACNA1S):c.356G>C (p.Arg119Pro) http://identifiers.org/clinvar/293742 ^@ NM_000639.2(FASLG):c.*119G>A http://identifiers.org/clinvar/294881 ^@ NM_001005337.2(PKP1):c.*2543C>A http://identifiers.org/clinvar/294931 ^@ NM_003465.2(CHIT1):c.383G>A (p.Arg128His) http://identifiers.org/clinvar/295081 ^@ NM_000228.2(LAMB3):c.2702-14G>A http://identifiers.org/clinvar/295031 ^@ NM_032409.2(PINK1):c.*725_*728dupGAGA http://identifiers.org/clinvar/295181 ^@ NM_006147.3(IRF6):c.*1678delT http://identifiers.org/clinvar/343323 ^@ NM_014382.3(ATP2C1):c.636G>A (p.Ser212=) http://identifiers.org/clinvar/344323 ^@ NM_003907.2(EIF2B5):c.-203C>A http://identifiers.org/clinvar/343473 ^@ NM_000532.4(PCCB):c.1154A>G (p.Asn385Ser) http://identifiers.org/clinvar/335987 ^@ NM_005633.3(SOS1):c.*1844A>G http://identifiers.org/clinvar/344423 ^@ NM_003722.4(TP63):c.*2123C>T http://identifiers.org/clinvar/336037 ^@ NM_022436.2(ABCG5):c.1569C>T (p.Ile523=) http://identifiers.org/clinvar/344523 ^@ NM_015560.2(OPA1):c.*3147G>C http://identifiers.org/clinvar/343873 ^@ NM_004733.3(SLC33A1):c.*105G>A http://identifiers.org/clinvar/344973 ^@ NM_001106.3(ACVR2B):c.*3078C>T http://identifiers.org/clinvar/344123 ^@ NM_005025.4(SERPINI1):c.218G>A (p.Arg73His) http://identifiers.org/clinvar/344173 ^@ NM_198407.2(GHSR):c.*1832G>A http://identifiers.org/clinvar/344223 ^@ NM_031955.5(SPATA16):c.232G>A (p.Glu78Lys) http://identifiers.org/clinvar/344373 ^@ NM_000460.3(THPO):c.303A>G (p.Gln101=) http://identifiers.org/clinvar/345912 ^@ NM_002222.5(ITPR1):c.*1061T>G http://identifiers.org/clinvar/337654 ^@ NM_001298.2(CNGA3):c.225C>T (p.Arg75=) http://identifiers.org/clinvar/346712 ^@ NM_002942.4(ROBO2):c.3876G>A (p.Lys1292=) http://identifiers.org/clinvar/342484 ^@ NM_000551.3(VHL):c.*2716G>A http://identifiers.org/clinvar/342434 ^@ NM_000551.3(VHL):c.*1371A>G http://identifiers.org/clinvar/346962 ^@ NM_000097.5(CPOX):c.*381C>T http://identifiers.org/clinvar/347162 ^@ NM_000204.4(CFI):c.1044+8C>T http://identifiers.org/clinvar/345962 ^@ NM_199069.1(NDUFAF3):c.38C>T (p.Ala13Val) http://identifiers.org/clinvar/346162 ^@ NM_052859.3(RFT1):c.*1804C>T http://identifiers.org/clinvar/346212 ^@ NM_003392.4(WNT5A):c.*3745C>T http://identifiers.org/clinvar/346262 ^@ NM_003392.4(WNT5A):c.*579A>G http://identifiers.org/clinvar/343123 ^@ NM_032638.4(GATA2):c.*482C>T http://identifiers.org/clinvar/347851 ^@ NM_004744.4(LRAT):c.403G>T (p.Ala135Ser) http://identifiers.org/clinvar/346412 ^@ NM_000925.3(PDHB):c.11T>C (p.Val4Ala) http://identifiers.org/clinvar/343173 ^@ NM_004637.5(RAB7A):c.*702T>G http://identifiers.org/clinvar/347901 ^@ NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) http://identifiers.org/clinvar/348001 ^@ NM_006017.2(PROM1):c.731G>A (p.Arg244Gln) http://identifiers.org/clinvar/343623 ^@ NM_001184.3(ATR):c.431T>G (p.Val144Gly) http://identifiers.org/clinvar/348301 ^@ NM_207352.3(CYP4V2):c.327+11G>C http://identifiers.org/clinvar/348351 ^@ NM_207352.3(CYP4V2):c.*1236A>T http://identifiers.org/clinvar/346812 ^@ NM_014043.3(CHMP2B):c.*602T>G http://identifiers.org/clinvar/346862 ^@ NM_033337.2(CAV3):c.*834A>T http://identifiers.org/clinvar/348451 ^@ NM_133330.2(NSD2):c.*9G>A http://identifiers.org/clinvar/343673 ^@ NM_031850.3(AGTR1):c.869C>T (p.Pro290Leu) http://identifiers.org/clinvar/343973 ^@ NM_020800.2(IFT80):c.1053G>A (p.Thr351=) http://identifiers.org/clinvar/358168 ^@ NM_183050.3(BCKDHB):c.51A>G (p.Ala17=) http://identifiers.org/clinvar/353989 ^@ NM_001104631.1(PDE4D):c.1552+7A>G http://identifiers.org/clinvar/354189 ^@ NM_003719.3(PDE8B):c.*497dupA http://identifiers.org/clinvar/362327 ^@ NM_006765.3(TUSC3):c.*1191C>T http://identifiers.org/clinvar/354139 ^@ NM_000521.3(HEXB):c.*40A>C http://identifiers.org/clinvar/354389 ^@ NM_004385.4(VCAN):c.297G>C (p.Gly99=) http://identifiers.org/clinvar/354439 ^@ NM_004385.4(VCAN):c.7374A>G (p.Thr2458=) http://identifiers.org/clinvar/358668 ^@ NM_014491.3(FOXP2):c.*3517T>C http://identifiers.org/clinvar/362727 ^@ NM_001017420.2(ESCO2):c.-44G>A http://identifiers.org/clinvar/354639 ^@ NM_000439.4(PCSK1):c.2069G>C (p.Ser690Thr) http://identifiers.org/clinvar/354689 ^@ NM_005068.2(SIM1):c.-181T>A http://identifiers.org/clinvar/354539 ^@ NM_002890.2(RASA1):c.*543A>G http://identifiers.org/clinvar/362927 ^@ NM_003816.2(ADAM9):c.914+8T>A http://identifiers.org/clinvar/362977 ^@ NM_000037.3(ANK1):c.*385delG http://identifiers.org/clinvar/359218 ^@ NM_014141.5(CNTNAP2):c.*1397_*1398dupAT http://identifiers.org/clinvar/354739 ^@ NM_001491.2(GCNT2):c.*2503G>A http://identifiers.org/clinvar/363127 ^@ NM_018105.2(THAP1):c.-15C>T http://identifiers.org/clinvar/359368 ^@ NM_022458.3(LMBR1):c.*3180A>C http://identifiers.org/clinvar/354789 ^@ NM_001242957.2(MAK):c.1558C>T (p.Pro520Ser) http://identifiers.org/clinvar/354989 ^@ NM_014028.3(OSTM1):c.300G>T (p.Gly100=) http://identifiers.org/clinvar/359468 ^@ NM_058246.3(DNAJB6):c.*604C>G http://identifiers.org/clinvar/355039 ^@ NM_014845.5(FIG4):c.1272-10C>G http://identifiers.org/clinvar/359518 ^@ NM_001101426.3(ISPD):c.*2450_*2451delAT http://identifiers.org/clinvar/359568 ^@ NM_001101426.3(ISPD):c.*791T>C http://identifiers.org/clinvar/355140 ^@ NM_002667.4(PLN):c.*250T>C http://identifiers.org/clinvar/355240 ^@ NM_000426.3(LAMA2):c.112+3dupA http://identifiers.org/clinvar/359718 ^@ NM_032581.3(FAM126A):c.*3878C>T http://identifiers.org/clinvar/359768 ^@ NM_032581.3(FAM126A):c.1555T>C (p.Ser519Pro) http://identifiers.org/clinvar/359818 ^@ NM_001031710.2(KLHL7):c.*1123A>C http://identifiers.org/clinvar/359868 ^@ NM_018947.5(CYCS):c.*4686C>G http://identifiers.org/clinvar/356079 ^@ NM_198586.2(NHLRC1):c.*55G>C http://identifiers.org/clinvar/364766 ^@ NM_018249.5(CDK5RAP2):c.2546T>C (p.Leu849Pro) http://identifiers.org/clinvar/356129 ^@ NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp) http://identifiers.org/clinvar/364816 ^@ NM_000177.4(GSN):c.1640A>G (p.Tyr547Cys) http://identifiers.org/clinvar/355929 ^@ NM_033071.3(SYNE1):c.3608C>T (p.Ser1203Phe) http://identifiers.org/clinvar/356329 ^@ NM_006929.4(SKIV2L):c.1808T>C (p.Phe603Ser) http://identifiers.org/clinvar/356429 ^@ NM_001014.4(RPS10):c.-32delC http://identifiers.org/clinvar/356179 ^@ NM_001080.3(ALDH5A1):c.*2115C>T http://identifiers.org/clinvar/356529 ^@ NM_182548.3(LHFPL5):c.*507_*508insTCTC http://identifiers.org/clinvar/365216 ^@ NM_000113.2(TOR1A):c.*824delG http://identifiers.org/clinvar/356229 ^@ NM_000434.3(NEU1):c.*210T>A http://identifiers.org/clinvar/356629 ^@ NM_005943.5(MOCS1):c.*1346C>T http://identifiers.org/clinvar/365366 ^@ NM_015046.5(SETX):c.2295C>A (p.Phe765Leu) http://identifiers.org/clinvar/356379 ^@ NM_080680.2(COL11A2):c.*128C>G http://identifiers.org/clinvar/365566 ^@ NM_139025.4(ADAMTS13):c.3796A>T (p.Thr1266Ser) http://identifiers.org/clinvar/365616 ^@ NM_014694.3(ADAMTSL2):c.*242C>T http://identifiers.org/clinvar/356979 ^@ NM_006502.2(POLH):c.*3335C>A http://identifiers.org/clinvar/365866 ^@ NM_019892.5(INPP5E):c.*926T>C http://identifiers.org/clinvar/357029 ^@ NM_020745.3(AARS2):c.*1549C>T http://identifiers.org/clinvar/357079 ^@ NM_020745.3(AARS2):c.785G>A (p.Arg262Gln) http://identifiers.org/clinvar/303108 ^@ NM_006918.4(SC5D):c.*4924T>C http://identifiers.org/clinvar/303158 ^@ NM_018400.3(SCN3B):c.*2178T>A http://identifiers.org/clinvar/367206 ^@ NM_000170.2(GLDC):c.142G>T (p.Gly48Trp) http://identifiers.org/clinvar/367256 ^@ NM_138691.2(TMC1):c.910G>A (p.Gly304Arg) http://identifiers.org/clinvar/311296 ^@ NM_021954.3(GJA3):c.*2593A>T http://identifiers.org/clinvar/311346 ^@ NM_021954.3(GJA3):c.398G>A (p.Arg133Gln) http://identifiers.org/clinvar/303308 ^@ NM_152722.4(HEPACAM):c.*459T>G http://identifiers.org/clinvar/311396 ^@ NM_006783.4(GJB6):c.-346G>A http://identifiers.org/clinvar/366856 ^@ NM_012203.1(GRHPR):c.512G>A (p.Arg171His) http://identifiers.org/clinvar/303508 ^@ NM_016952.4(CDON):c.1889C>T (p.Thr630Met) http://identifiers.org/clinvar/366956 ^@ NM_001042413.1(GLIS3):c.2297+11_2297+12delCT http://identifiers.org/clinvar/303758 ^@ NM_000352.4(ABCC8):c.3858C>T (p.Tyr1286=) http://identifiers.org/clinvar/367056 ^@ NM_004170.5(SLC1A1):c.1227T>C (p.Ala409=) http://identifiers.org/clinvar/367685 ^@ NM_000197.1(HSD17B3):c.9C>T (p.Asp3=) http://identifiers.org/clinvar/303858 ^@ NM_181507.1(HPS5):c.*464C>A http://identifiers.org/clinvar/367335 ^@ NM_017662.4(TRPM6):c.-167A>C http://identifiers.org/clinvar/304058 ^@ NM_000207.2(INS):c.25C>T (p.Pro9Ser) http://identifiers.org/clinvar/298570 ^@ NM_016169.3(SUFU):c.180C>T (p.Tyr60=) http://identifiers.org/clinvar/367435 ^@ NM_033305.2(VPS13A):c.*137_*140delCAAA http://identifiers.org/clinvar/304108 ^@ NM_213599.2(ANO5):c.2249C>T (p.Ala750Val) http://identifiers.org/clinvar/367535 ^@ NM_006415.3(SPTLC1):c.*503C>T http://identifiers.org/clinvar/367635 ^@ NM_000264.3(PTCH1):c.*1896T>C http://identifiers.org/clinvar/298670 ^@ NM_000494.3(COL17A1):c.*947A>G http://identifiers.org/clinvar/305749 ^@ NM_007103.3(NDUFV1):c.819C>T (p.Thr273=) http://identifiers.org/clinvar/314845 ^@ NM_018319.3(TDP1):c.*393T>C http://identifiers.org/clinvar/314945 ^@ NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) http://identifiers.org/clinvar/314995 ^@ NM_000295.4(SERPINA1):c.*1567C>G http://identifiers.org/clinvar/315295 ^@ NM_139057.3(ADAMTS17):c.1323-12C>T http://identifiers.org/clinvar/306112 ^@ NM_001235.3(SERPINH1):c.1016G>A (p.Arg339His) http://identifiers.org/clinvar/306312 ^@ NM_020376.3(PNPLA2):c.*302G>A http://identifiers.org/clinvar/315645 ^@ NM_005159.4(ACTC1):c.*2206C>G http://identifiers.org/clinvar/315695 ^@ NM_005159.4(ACTC1):c.*307T>A http://identifiers.org/clinvar/315745 ^@ NM_152594.2(SPRED1):c.*590_*595dupATATAT http://identifiers.org/clinvar/315795 ^@ NM_002225.3(IVD):c.-79C>G http://identifiers.org/clinvar/315195 ^@ NM_139057.3(ADAMTS17):c.*1130C>T http://identifiers.org/clinvar/309752 ^@ NM_001173467.2(SP7):c.*1161C>A http://identifiers.org/clinvar/317885 ^@ NM_032520.4(GNPTG):c.502G>A (p.Val168Ile) http://identifiers.org/clinvar/329507 ^@ NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) http://identifiers.org/clinvar/318237 ^@ NM_004970.2(IGFALS):c.1478G>A (p.Arg493His) http://identifiers.org/clinvar/311546 ^@ NM_014363.5(SACS):c.3868G>T (p.Ala1290Ser) http://identifiers.org/clinvar/318287 ^@ NM_003361.3(UMOD):c.1464C>T (p.Gly488=) http://identifiers.org/clinvar/311646 ^@ NM_015972.3(POLR1D):c.-21G>A http://identifiers.org/clinvar/311696 ^@ NM_004795.3(KL):c.1593C>T (p.Tyr531=) http://identifiers.org/clinvar/330207 ^@ NM_001256714.1(DNAAF3):c.1790C>T (p.Pro597Leu) http://identifiers.org/clinvar/330557 ^@ NM_006949.3(STXBP2):c.1455C>T (p.Asp485=) http://identifiers.org/clinvar/306663 ^@ NM_018979.3(WNK1):c.6825T>C (p.Asn2275=) http://identifiers.org/clinvar/310696 ^@ NM_002108.3(HAL):c.*408delT http://identifiers.org/clinvar/319376 ^@ NM_000293.2(PHKB):c.*641C>A http://identifiers.org/clinvar/319426 ^@ NM_022162.2(NOD2):c.460G>A (p.Asp154Asn) http://identifiers.org/clinvar/319527 ^@ NM_015247.2(CYLD):c.*1727T>C http://identifiers.org/clinvar/311096 ^@ NM_001846.3(COL4A2):c.297G>A (p.Thr99=) http://identifiers.org/clinvar/311146 ^@ NM_001846.3(COL4A2):c.2317C>T (p.Pro773Ser) http://identifiers.org/clinvar/311196 ^@ NM_001846.3(COL4A2):c.5070C>T (p.Ala1690=) http://identifiers.org/clinvar/319727 ^@ NM_001080432.2(FTO):c.*2108G>A http://identifiers.org/clinvar/319877 ^@ NM_031885.3(BBS2):c.-146G>A http://identifiers.org/clinvar/338543 ^@ NM_000308.3(CTSA):c.*320G>A http://identifiers.org/clinvar/311446 ^@ NM_002010.2(FGF9):c.*496C>T http://identifiers.org/clinvar/320027 ^@ NM_001297.4(CNGB1):c.*1292A>C http://identifiers.org/clinvar/311496 ^@ NM_014363.5(SACS):c.*307A>G http://identifiers.org/clinvar/338693 ^@ NM_006420.2(ARFGEF2):c.2658C>T (p.His886=) http://identifiers.org/clinvar/320127 ^@ NM_004614.4(TK2):c.*2221T>C http://identifiers.org/clinvar/320177 ^@ NM_001538.3(HSF4):c.32A>G (p.Glu11Gly) http://identifiers.org/clinvar/338743 ^@ NM_006420.2(ARFGEF2):c.*2806delA http://identifiers.org/clinvar/320277 ^@ NM_004360.4(CDH1):c.*410A>T http://identifiers.org/clinvar/339044 ^@ NM_001001433.2(STX16):c.132+15G>A http://identifiers.org/clinvar/339144 ^@ NM_207034.2(EDN3):c.*571A>G http://identifiers.org/clinvar/339494 ^@ NM_015192.3(PLCB1):c.178-15G>A http://identifiers.org/clinvar/321316 ^@ NM_000135.2(FANCA):c.*447T>C http://identifiers.org/clinvar/321670 ^@ NM_017534.5(MYH2):c.4007C>T (p.Ala1336Val) http://identifiers.org/clinvar/321720 ^@ NM_002470.3(MYH3):c.5161-13C>T http://identifiers.org/clinvar/328368 ^@ NM_000435.2(NOTCH3):c.*338A>C http://identifiers.org/clinvar/368085 ^@ NM_000116.3(TAZ):c.-120delT http://identifiers.org/clinvar/367785 ^@ NM_002294.2(LAMP2):c.*33A>G http://identifiers.org/clinvar/328518 ^@ NM_000215.3(JAK3):c.649G>A (p.Val217Met) http://identifiers.org/clinvar/367835 ^@ NM_001167.3(XIAP):c.*4307_*4309dupAAA http://identifiers.org/clinvar/328668 ^@ NM_001031726.3(C19orf12):c.*3288T>G http://identifiers.org/clinvar/367985 ^@ NM_001011658.3(TRAPPC2):c.*641G>A http://identifiers.org/clinvar/368035 ^@ NM_001018113.2(FANCB):c.69T>C (p.Leu23=) http://identifiers.org/clinvar/328818 ^@ NM_000285.3(PEPD):c.448G>A (p.Val150Ile) http://identifiers.org/clinvar/327418 ^@ NM_000140.3(FECH):c.*347G>A http://identifiers.org/clinvar/327468 ^@ NM_005603.4(ATP8B1):c.3481G>A (p.Val1161Ile) http://identifiers.org/clinvar/329457 ^@ NM_000483.4(APOC2):c.*90C>T http://identifiers.org/clinvar/327768 ^@ NM_005786.5(TSHZ1):c.-443_-442delAG http://identifiers.org/clinvar/327918 ^@ NM_001130823.2(DNMT1):c.981T>G (p.Ile327Met) http://identifiers.org/clinvar/329857 ^@ NM_017636.3(TRPM4):c.1817C>G (p.Ala606Gly) http://identifiers.org/clinvar/330007 ^@ NM_144687.3(NLRP12):c.2828_2829dupTC (p.Arg944Serfs) http://identifiers.org/clinvar/328218 ^@ NM_000455.4(STK11):c.-274C>T http://identifiers.org/clinvar/330307 ^@ NM_000064.3(C3):c.2394C>T (p.Ser798=) http://identifiers.org/clinvar/328418 ^@ NM_000435.2(NOTCH3):c.509A>G (p.His170Arg) http://identifiers.org/clinvar/328468 ^@ NM_000215.3(JAK3):c.*1523C>T http://identifiers.org/clinvar/330507 ^@ NM_020533.2(MCOLN1):c.*22C>T http://identifiers.org/clinvar/330607 ^@ NM_030957.3(ADAMTS10):c.1085-5C>T http://identifiers.org/clinvar/328718 ^@ NM_001031726.3(C19orf12):c.*541G>A http://identifiers.org/clinvar/328768 ^@ NM_014270.4(SLC7A9):c.30A>G (p.Arg10=) http://identifiers.org/clinvar/337754 ^@ NM_000214.2(JAG1):c.1721-15A>G http://identifiers.org/clinvar/338493 ^@ NM_000457.4(HNF4A):c.*3068C>T http://identifiers.org/clinvar/329607 ^@ NM_025136.3(OPA3):c.*4439C>T http://identifiers.org/clinvar/329757 ^@ NM_000554.5(CRX):c.*2171C>T http://identifiers.org/clinvar/329807 ^@ NM_002103.4(GYS1):c.1961C>T (p.Pro654Leu) http://identifiers.org/clinvar/338994 ^@ NM_004738.4(VAPB):c.*4446G>A http://identifiers.org/clinvar/329907 ^@ NM_024729.3(MYH14):c.543C>T (p.Ala181=) http://identifiers.org/clinvar/339094 ^@ NM_001001433.2(STX16):c.*2199C>T http://identifiers.org/clinvar/330257 ^@ NM_006087.3(TUBB4A):c.*100G>A http://identifiers.org/clinvar/339594 ^@ NM_000933.3(PLCB4):c.3460-5_3460-2delAACA http://identifiers.org/clinvar/337704 ^@ NM_018848.3(MKKS):c.-481T>A http://identifiers.org/clinvar/338593 ^@ NM_030777.3(SLC2A10):c.810G>C (p.Val270=) http://identifiers.org/clinvar/338894 ^@ NM_002591.3(PCK1):c.1674C>T (p.Ile558=) http://identifiers.org/clinvar/338944 ^@ NM_004738.4(VAPB):c.*1050G>A http://identifiers.org/clinvar/341184 ^@ NM_000355.3(TCN2):c.-153C>G http://identifiers.org/clinvar/339344 ^@ NM_025219.2(DNAJC5):c.-194C>T http://identifiers.org/clinvar/341334 ^@ NM_000362.4(TIMP3):c.-433C>T http://identifiers.org/clinvar/339444 ^@ NM_025219.2(DNAJC5):c.*4253C>G http://identifiers.org/clinvar/341484 ^@ NM_002473.5(MYH9):c.*193C>T http://identifiers.org/clinvar/339544 ^@ NM_015192.3(PLCB1):c.*1954_*1957delCTTA http://identifiers.org/clinvar/341784 ^@ NM_001429.3(EP300):c.781C>T (p.Pro261Ser) http://identifiers.org/clinvar/341934 ^@ NM_025225.2(PNPLA3):c.561C>T (p.Phe187=) http://identifiers.org/clinvar/384886 ^@ NM_020822.2(KCNT1):c.957C>T (p.Asp319=) http://identifiers.org/clinvar/384285 ^@ NM_000051.3(ATM):c.73-14C>A http://identifiers.org/clinvar/385286 ^@ NM_007327.3(GRIN1):c.105G>A (p.Thr35=) http://identifiers.org/clinvar/387775 ^@ NM_000051.3(ATM):c.6486C>T (p.Ser2162=) http://identifiers.org/clinvar/387575 ^@ NM_032634.3(PIGO):c.2520C>T (p.Leu840=) http://identifiers.org/clinvar/381741 ^@ NM_032578.3(MYPN):c.3768G>A (p.Ser1256=) http://identifiers.org/clinvar/383595 ^@ NM_007078.2(LDB3):c.1667A>G (p.Asn556Ser) http://identifiers.org/clinvar/379748 ^@ NM_014391.2(ANKRD1):c.108T>C (p.Ala36=) http://identifiers.org/clinvar/384536 ^@ NM_001360.2(DHCR7):c.1011C>T (p.Ala337=) http://identifiers.org/clinvar/386086 ^@ NM_030813.5(CLPB):c.1519C>T (p.Leu507=) http://identifiers.org/clinvar/385386 ^@ NM_024698.5(SLC25A22):c.293+6G>A http://identifiers.org/clinvar/384786 ^@ NM_016156.5(MTMR2):c.1770+3A>G http://identifiers.org/clinvar/378848 ^@ NM_014000.2(VCL):c.239+11G>A http://identifiers.org/clinvar/379448 ^@ NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) http://identifiers.org/clinvar/381791 ^@ NM_001909.4(CTSD):c.827+9T>A http://identifiers.org/clinvar/378646 ^@ NM_001130438.2(SPTAN1):c.238-9C>T http://identifiers.org/clinvar/379048 ^@ NM_000719.6(CACNA1C):c.5550G>A (p.Glu1850=) http://identifiers.org/clinvar/385036 ^@ NM_003477.2(PDHX):c.642-19A>G http://identifiers.org/clinvar/381341 ^@ NM_000256.3(MYBPC3):c.1928-19T>A http://identifiers.org/clinvar/393063 ^@ NM_024649.4(BBS1):c.1594C>T (p.Arg532Trp) http://identifiers.org/clinvar/392913 ^@ NM_016122.2(CEP83):c.1321A>G (p.Arg441Gly) http://identifiers.org/clinvar/379949 ^@ NM_024537.3(CARS2):c.852A>G (p.Glu284=) http://identifiers.org/clinvar/385486 ^@ NM_020822.2(KCNT1):c.2595-9C>T http://identifiers.org/clinvar/379999 ^@ NM_024678.5(NARS2):c.-342T>A http://identifiers.org/clinvar/385936 ^@ NM_000136.2(FANCC):c.1534-16T>C http://identifiers.org/clinvar/388225 ^@ NM_130838.1(UBE3A):c.301+18C>G http://identifiers.org/clinvar/379498 ^@ NM_000059.3(BRCA2):c.2262A>G (p.Gln754=) http://identifiers.org/clinvar/379348 ^@ NM_000051.3(ATM):c.901+1G>C http://identifiers.org/clinvar/380890 ^@ NM_014844.4(TECPR2):c.951+18A>G http://identifiers.org/clinvar/379198 ^@ NM_000051.3(ATM):c.2742T>C (p.Asn914=) http://identifiers.org/clinvar/387375 ^@ NM_014252.3(SLC25A15):c.564C>T (p.Phe188=) http://identifiers.org/clinvar/384435 ^@ NM_015531.5(C2CD3):c.1964C>A (p.Pro655Gln) http://identifiers.org/clinvar/387425 ^@ NM_024698.5(SLC25A22):c.147-17T>C http://identifiers.org/clinvar/387275 ^@ NM_004360.4(CDH1):c.387+6T>C http://identifiers.org/clinvar/388025 ^@ NM_006231.3(POLE):c.4150-17C>T http://identifiers.org/clinvar/391424 ^@ NM_174917.4(ACSF3):c.1614-6C>T http://identifiers.org/clinvar/47451 ^@ TTN:c.7830G>C (p.Met2610Ile) http://identifiers.org/clinvar/47501 ^@ NM_133378.4(TTN):c.83122T>G (p.Cys27708Gly) http://identifiers.org/clinvar/47551 ^@ NM_001256850.1(TTN):c.90282C>T (p.Asp30094=) http://identifiers.org/clinvar/47601 ^@ NM_001256850.1(TTN):c.93516G>A (p.Val31172=) http://identifiers.org/clinvar/48292 ^@ NM_198056.2(SCN5A):c.1943C>T (p.Pro648Leu) http://identifiers.org/clinvar/48343 ^@ NM_206933.2(USH2A):c.10190_10191delAA (p.Lys3397Argfs) http://identifiers.org/clinvar/48393 ^@ NM_206933.2(USH2A):c.1227G>C (p.Trp409Cys) http://identifiers.org/clinvar/48443 ^@ NM_206933.2(USH2A):c.14531C>T (p.Thr4844Met) http://identifiers.org/clinvar/48494 ^@ NM_206933.2(USH2A):c.2989G>A (p.Gly997Arg) http://identifiers.org/clinvar/10 ^@ NM_000410.3(HFE):c.187C>G (p.His63Asp) http://identifiers.org/clinvar/114 ^@ NM_022067.3(VIPAS39):c.871C>T (p.Gln291Ter) http://identifiers.org/clinvar/118 ^@ NM_000071.2(CBS):c.434C>T (p.Pro145Leu) http://identifiers.org/clinvar/132 ^@ NM_000071.2(CBS):c.572C>T (p.Thr191Met) http://identifiers.org/clinvar/274 ^@ SERPINF2, 1-BP INS, 1438C http://identifiers.org/clinvar/677 ^@ NM_000312.3(PROC):c.1015G>A (p.Val339Met) http://identifiers.org/clinvar/718 ^@ NM_001109809.2(ZFP57):c.1372C>G (p.His458Asp) http://identifiers.org/clinvar/932 ^@ NM_000404.3(GLB1):c.1445G>A (p.Arg482His) http://identifiers.org/clinvar/951 ^@ NC_000009.12:g.311734_398139del86406 http://identifiers.org/clinvar/1055 ^@ NM_001080432.2(FTO):c.947G>A (p.Arg316Gln) http://identifiers.org/clinvar/1064 ^@ NM_018122.4(DARS2):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/1224 ^@ NM_032985.4(SEC23B):c.1588C>T (p.Arg530Trp) http://identifiers.org/clinvar/1275 ^@ NM_173660.4(DOK7):c.548_551delTCCT (p.Phe183Cysfs) http://identifiers.org/clinvar/1365 ^@ NM_153704.5(TMEM67):c.383_384delAC (p.His128Leufs) http://identifiers.org/clinvar/1410 ^@ NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp) http://identifiers.org/clinvar/1456 ^@ NM_000190.3(HMBS):c.499C>T (p.Arg167Trp) http://identifiers.org/clinvar/1500 ^@ NM_004035.6(ACOX1):c.532G>T (p.Gly178Cys) http://identifiers.org/clinvar/1547 ^@ NM_000237.2(LPL):c.621C>G (p.Asp207Glu) http://identifiers.org/clinvar/1592 ^@ NM_001127255.1(NLRP7):c.1193T>G (p.Leu398Arg) http://identifiers.org/clinvar/1641 ^@ NM_000382.2(ALDH3A2):c.1297_1298delGA (p.Glu433Argfs) http://identifiers.org/clinvar/1687 ^@ NM_000528.3(MAN2B1):c.2248C>T (p.Arg750Trp) http://identifiers.org/clinvar/1732 ^@ NIPAL4, IVS5, G-A, +1 http://identifiers.org/clinvar/1783 ^@ NM_000102.3(CYP17A1):c.1024C>A (p.Pro342Thr) http://identifiers.org/clinvar/1828 ^@ NM_005767.5(LPAR6):c.436G>A (p.Gly146Arg) http://identifiers.org/clinvar/1873 ^@ NM_020376.3(PNPLA2):c.808delC (p.His270Thrfs) http://identifiers.org/clinvar/1918 ^@ NM_001017922.1(ERMAP):c.139G>A (p.Glu47Lys) http://identifiers.org/clinvar/1963 ^@ NM_000022.3(ADA):c.446G>A (p.Arg149Gln) http://identifiers.org/clinvar/2007 ^@ SGCG, 2-BP DEL, 793TG http://identifiers.org/clinvar/2052 ^@ NM_152443.2(RDH12):c.451C>A (p.His151Asn) http://identifiers.org/clinvar/2098 ^@ PC, IVS15, 4-BP DEL, TAGG, +2-5 http://identifiers.org/clinvar/2143 ^@ NIPBL, 1-BP INS, 1546G http://identifiers.org/clinvar/2190 ^@ NM_207352.3(CYP4V2):c.181G>A (p.Gly61Ser) http://identifiers.org/clinvar/2235 ^@ NM_000551.3(VHL):c.571C>G (p.His191Asp) http://identifiers.org/clinvar/2280 ^@ NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) http://identifiers.org/clinvar/2326 ^@ NM_033071.3(SYNE1):c.15705-12A>G http://identifiers.org/clinvar/2371 ^@ NM_213653.3(HFE2):c.963C>A (p.Cys321Ter) http://identifiers.org/clinvar/2417 ^@ NM_032409.2(PINK1):c.1196C>T (p.Pro399Leu) http://identifiers.org/clinvar/2693 ^@ NM_017436.5(A4GALT):c.752C>T (p.Pro251Leu) http://identifiers.org/clinvar/10179 ^@ NM_000132.3(F8):c.665A>T (p.Asp222Val) http://identifiers.org/clinvar/10223 ^@ NM_000132.3(F8):c.1648C>T (p.Arg550Cys) http://identifiers.org/clinvar/10269 ^@ F8, IVS14AS, A-G, -2 http://identifiers.org/clinvar/10313 ^@ NM_000132.3(F8):c.6464_6465delAA (p.Lys2155Thrfs) http://identifiers.org/clinvar/10359 ^@ GRIA3, 0.4-MB DEL http://identifiers.org/clinvar/10409 ^@ NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) http://identifiers.org/clinvar/10457 ^@ COL4A5, 38-KB DEL http://identifiers.org/clinvar/10503 ^@ NM_020061.5(OPN1LW):c.739C>T (p.Arg247Ter) http://identifiers.org/clinvar/10595 ^@ NM_000133.3(F9):c.709C>T (p.Gln237Ter) http://identifiers.org/clinvar/10686 ^@ NM_000266.3(NDP):c.384C>A (p.Cys128Ter) http://identifiers.org/clinvar/10730 ^@ NM_000169.2(GLA):c.644A>G (p.Asn215Ser) http://identifiers.org/clinvar/10776 ^@ NM_014467.2(SRPX2):c.215A>C (p.Tyr72Ser) http://identifiers.org/clinvar/10820 ^@ PHEX, A-G, NT-429 http://identifiers.org/clinvar/11263 ^@ NM_004006.2(DMD):c.6790C>T (p.Gln2264Ter) http://identifiers.org/clinvar/11308 ^@ ABCD1, IVS6DS, G-A, +1 http://identifiers.org/clinvar/11354 ^@ NM_000061.2(BTK):c.310-1G>C http://identifiers.org/clinvar/11623 ^@ NM_004595.4(SMS):c.329+5G>A http://identifiers.org/clinvar/11673 ^@ NM_006306.3(SMC1A):c.1478A>C (p.Glu493Ala) http://identifiers.org/clinvar/11724 ^@ NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) http://identifiers.org/clinvar/11776 ^@ NM_001110556.1(FLNA):c.1910C>A (p.Pro637Gln) http://identifiers.org/clinvar/11826 ^@ MECP2, 1-BP DEL, 76C http://identifiers.org/clinvar/12629 ^@ NM_007313.2(ABL1):c.1109T>C (p.Met370Thr) http://identifiers.org/clinvar/12679 ^@ NM_000362.4(TIMP3):c.565G>T (p.Gly189Cys) http://identifiers.org/clinvar/12731 ^@ NM_198253.2(TERT):c.2080G>A (p.Val694Met) http://identifiers.org/clinvar/12781 ^@ NM_003000.2(SDHB):c.725G>A (p.Arg242His) http://identifiers.org/clinvar/12831 ^@ NM_001024858.2(SPTB):c.6157G>C (p.Ala2053Pro) http://identifiers.org/clinvar/12882 ^@ NM_006920.4(SCN1A):c.4910G>A (p.Arg1637His) http://identifiers.org/clinvar/12932 ^@ NM_003052.4(SLC34A1):c.439G>A (p.Val147Met) http://identifiers.org/clinvar/12983 ^@ NM_000540.2(RYR1):c.10579C>T (p.Pro3527Ser) http://identifiers.org/clinvar/13033 ^@ NM_000539.3(RHO):c.544G>A (p.Gly182Ser) http://identifiers.org/clinvar/13085 ^@ NM_000321.2(RB1):c.-189G>T http://identifiers.org/clinvar/13135 ^@ NM_000536.3(RAG2):c.644C>T (p.Thr215Ile) http://identifiers.org/clinvar/13186 ^@ NM_002906.3(RDX):c.463C>T (p.Gln155Ter) http://identifiers.org/clinvar/13237 ^@ NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) http://identifiers.org/clinvar/13288 ^@ NM_000141.4(FGFR2):c.817_819delGAC (p.Asp273del) http://identifiers.org/clinvar/13339 ^@ NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) http://identifiers.org/clinvar/13392 ^@ NM_000207.2(INS):c.163C>T (p.Arg55Cys) http://identifiers.org/clinvar/13444 ^@ NM_000371.3(TTR):c.88T>C (p.Cys30Arg) http://identifiers.org/clinvar/13495 ^@ NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) http://identifiers.org/clinvar/13545 ^@ NM_006206.4(PDGFRA):c.2533_2544delCATGATTCGAAC (p.His845_Asn848del) http://identifiers.org/clinvar/36669 ^@ NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) http://identifiers.org/clinvar/36721 ^@ NM_020975.4(RET):c.-234_-230dupGCCCC http://identifiers.org/clinvar/36774 ^@ NM_000451.3(SHOX):c.347A>G (p.Lys116Arg) http://identifiers.org/clinvar/36824 ^@ NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) http://identifiers.org/clinvar/36874 ^@ NM_003276.2(TMPO):c.1434G>C (p.Lys478Asn) http://identifiers.org/clinvar/36930 ^@ FOLR1, SPLICE SITE MUTATION http://identifiers.org/clinvar/37037 ^@ NM_005022.3(PFN1):c.350A>G (p.Glu117Gly) http://identifiers.org/clinvar/37101 ^@ NM_014967.4(FAN1):c.2809G>C (p.Gly937Arg) http://identifiers.org/clinvar/37236 ^@ CFHR5, EX2-3, DUP http://identifiers.org/clinvar/37315 ^@ NM_005340.6(HINT1):c.334C>A (p.His112Asn) http://identifiers.org/clinvar/37399 ^@ NM_007294.3(BRCA1):c.1222A>G (p.Lys408Glu) http://identifiers.org/clinvar/37451 ^@ NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter) http://identifiers.org/clinvar/37505 ^@ NM_007294.3(BRCA1):c.305C>G (p.Ala102Gly) http://identifiers.org/clinvar/37562 ^@ NM_007294.3(BRCA1):c.4073A>G (p.Glu1358Gly) http://identifiers.org/clinvar/37613 ^@ NM_007294.3(BRCA1):c.4837A>T (p.Ser1613Cys) http://identifiers.org/clinvar/37669 ^@ NM_007294.3(BRCA1):c.5417delC (p.Pro1806Glnfs) http://identifiers.org/clinvar/37723 ^@ NM_000059.3(BRCA2):c.10176delA (p.Glu3393Asnfs) http://identifiers.org/clinvar/37774 ^@ NM_000059.3(BRCA2):c.2092delC (p.Leu698Tyrfs) http://identifiers.org/clinvar/37827 ^@ NM_000059.3(BRCA2):c.3182delA (p.Lys1061Serfs) http://identifiers.org/clinvar/37880 ^@ NM_000059.3(BRCA2):c.4127_4130delGAAA (p.Gly1376Alafs) http://identifiers.org/clinvar/37932 ^@ NM_000059.3(BRCA2):c.4915G>A (p.Val1639Ile) http://identifiers.org/clinvar/37986 ^@ NM_000059.3(BRCA2):c.566A>G (p.Asp189Gly) http://identifiers.org/clinvar/38038 ^@ NM_000059.3(BRCA2):c.6333_6337delGAGAA (p.Arg2112Profs) http://identifiers.org/clinvar/38091 ^@ NM_000059.3(BRCA2):c.7379_7382delACAA (p.Asn2460Thrfs) http://identifiers.org/clinvar/38793 ^@ NM_003060.3(SLC22A5):c.1392_1409del18insCA (p.Val465Thrfs) http://identifiers.org/clinvar/39979 ^@ PHIP, TYR1149TER http://identifiers.org/clinvar/40091 ^@ NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) http://identifiers.org/clinvar/40243 ^@ NM_000138.4(FBN1):c.8155_8156delAA (p.Lys2719Aspfs) http://identifiers.org/clinvar/40371 ^@ NM_004333.4(BRAF):c.1497A>C (p.Lys499Asn) http://identifiers.org/clinvar/40439 ^@ NM_176795.4(HRAS):c.277A>G (p.Ile93Val) http://identifiers.org/clinvar/40507 ^@ NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) http://identifiers.org/clinvar/40563 ^@ NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) http://identifiers.org/clinvar/40628 ^@ NM_002880.3(RAF1):c.1914G>A (p.Thr638=) http://identifiers.org/clinvar/40708 ^@ NM_005633.3(SOS1):c.2760G>A (p.Arg920=) http://identifiers.org/clinvar/40794 ^@ NM_030662.3(MAP2K2):c.450+15G>T http://identifiers.org/clinvar/40991 ^@ NM_000095.2:c.1679A>G http://identifiers.org/clinvar/41051 ^@ NM_003611.2(OFD1):c.(?_-311)_1542+?del http://identifiers.org/clinvar/41104 ^@ NM_003611.2(OFD1):c.274T>C (p.Ser92Pro) http://identifiers.org/clinvar/41160 ^@ NM_003977.2(AIP):c.(?_1)_(*_?)del http://identifiers.org/clinvar/41213 ^@ NM_003977.3(AIP):c.854_857delAGGC (p.Gln285Leufs) http://identifiers.org/clinvar/242674 ^@ NM_003977.3(AIP):c.880_891delCTGGACCCAGCC (p.Asp295_Leu298del) http://identifiers.org/clinvar/51171 ^@ NM_000059.3(BRCA2):c.1670_1683delTAATTGATAATGGA (p.Leu557Terfs) http://identifiers.org/clinvar/51222 ^@ NM_000059.3(BRCA2):c.1899_1900insTT (p.Ala634Leufs) http://identifiers.org/clinvar/51274 ^@ NM_000059.3(BRCA2):c.2376C>A (p.Tyr792Ter) http://identifiers.org/clinvar/51325 ^@ NM_000059.3(BRCA2):c.2678A>G (p.Gln893Arg) http://identifiers.org/clinvar/51375 ^@ NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) http://identifiers.org/clinvar/54332 ^@ NM_007294.3(BRCA1):c.1716delA (p.Glu572Aspfs) http://identifiers.org/clinvar/54383 ^@ NM_007294.3(BRCA1):c.1892dupT (p.Ser632Lysfs) http://identifiers.org/clinvar/54433 ^@ NM_007294.3(BRCA1):c.2008G>A (p.Glu670Lys) http://identifiers.org/clinvar/54483 ^@ NM_007294.3(BRCA1):c.2175C>T (p.Ser725=) http://identifiers.org/clinvar/54533 ^@ NM_007294.3(BRCA1):c.231G>T (p.Thr77=) http://identifiers.org/clinvar/54583 ^@ NM_007294.3(BRCA1):c.2486_2487delTT (p.Phe829Terfs) http://identifiers.org/clinvar/54633 ^@ NM_007294.3(BRCA1):c.2665dupT (p.Ser889Phefs) http://identifiers.org/clinvar/54683 ^@ NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter) http://identifiers.org/clinvar/54733 ^@ NM_007294.3(BRCA1):c.2967delT (p.Phe989Leufs) http://identifiers.org/clinvar/54783 ^@ NM_007294.3(BRCA1):c.3157delG (p.Glu1053Lysfs) http://identifiers.org/clinvar/54833 ^@ NM_007294.3(BRCA1):c.3309T>A (p.Cys1103Ter) http://identifiers.org/clinvar/54883 ^@ NM_007294.3(BRCA1):c.3430C>T (p.Gln1144Ter) http://identifiers.org/clinvar/54933 ^@ NM_007294.3(BRCA1):c.3603T>G (p.Gly1201=) http://identifiers.org/clinvar/54985 ^@ NM_007294.3(BRCA1):c.3739G>A (p.Val1247Ile) http://identifiers.org/clinvar/55036 ^@ NM_007294.3(BRCA1):c.3878C>T (p.Ala1293Val) http://identifiers.org/clinvar/55087 ^@ NM_007294.3(BRCA1):c.4052T>A (p.Leu1351Ter) http://identifiers.org/clinvar/55138 ^@ NM_007294.3(BRCA1):c.4199T>C (p.Met1400Thr) http://identifiers.org/clinvar/55188 ^@ NM_007294.3(BRCA1):c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs) http://identifiers.org/clinvar/55239 ^@ NM_007294.3(BRCA1):c.4612C>T (p.Gln1538Ter) http://identifiers.org/clinvar/55290 ^@ NM_007294.3(BRCA1):c.4801A>T (p.Lys1601Ter) http://identifiers.org/clinvar/55340 ^@ NM_007294.3(BRCA1):c.4986+2T>C http://identifiers.org/clinvar/55390 ^@ NM_007294.3(BRCA1):c.5086G>C (p.Val1696Leu) http://identifiers.org/clinvar/55440 ^@ NM_007294.3(BRCA1):c.5162delA (p.Gln1721Argfs) http://identifiers.org/clinvar/55490 ^@ NM_007294.3(BRCA1):c.5266C>T (p.Gln1756Ter) http://identifiers.org/clinvar/55543 ^@ NM_007294.3(BRCA1):c.5341delG (p.Glu1781Asnfs) http://identifiers.org/clinvar/55593 ^@ NM_007294.3(BRCA1):c.5483delG (p.Cys1828Leufs) http://identifiers.org/clinvar/56508 ^@ NM_004646.3(NPHS1):c.512T>A (p.Ile171Asn) http://identifiers.org/clinvar/56559 ^@ NM_012434.4(SLC17A5):c.95-1G>C http://identifiers.org/clinvar/56614 ^@ NM_017777.3(MKS1):c.1048C>T (p.Gln350Ter) http://identifiers.org/clinvar/56667 ^@ NM_017890.4(VPS13B):c.4572dupA (p.Glu1525Argfs) http://identifiers.org/clinvar/56717 ^@ NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) http://identifiers.org/clinvar/57136 ^@ GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1 http://identifiers.org/clinvar/57187 ^@ GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 http://identifiers.org/clinvar/57240 ^@ GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3 http://identifiers.org/clinvar/57293 ^@ GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3 http://identifiers.org/clinvar/57346 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71014028)x1 http://identifiers.org/clinvar/57398 ^@ GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 http://identifiers.org/clinvar/101215 ^@ NM_000090.3(COL3A1):c.629G>T (p.Gly210Val) http://identifiers.org/clinvar/101265 ^@ NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp) http://identifiers.org/clinvar/101315 ^@ NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg) http://identifiers.org/clinvar/101365 ^@ NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser) http://identifiers.org/clinvar/101415 ^@ NP_000081.1:p.Gly1014_Glu1175del http://identifiers.org/clinvar/101465 ^@ NM_000090.3(COL3A1):c.3490G>C (p.Gly1164Arg) http://identifiers.org/clinvar/101525 ^@ POU4F3, 14-BP DEL, NT662 http://identifiers.org/clinvar/102478 ^@ NM_000277.1(PAH):c.1028A>T (p.Tyr343Phe) http://identifiers.org/clinvar/102534 ^@ NM_000277.1(PAH):c.1130A>G (p.Tyr377Cys) http://identifiers.org/clinvar/102586 ^@ NM_000277.1(PAH):c.1301C>A (p.Ala434Asp) http://identifiers.org/clinvar/102641 ^@ NM_000277.1(PAH):c.265C>T (p.Pro89Ser) http://identifiers.org/clinvar/102693 ^@ NM_000277.1(PAH):c.472C>T (p.Arg158Trp) http://identifiers.org/clinvar/102743 ^@ NM_000277.1(PAH):c.586_608del23 (p.Ser196Leufs) http://identifiers.org/clinvar/102794 ^@ NM_000277.1(PAH):c.707-2A>G http://identifiers.org/clinvar/102844 ^@ NM_000277.1(PAH):c.806delT (p.Ile269Thrfs) http://identifiers.org/clinvar/102896 ^@ NM_000277.1(PAH):c.922C>T (p.Leu308Phe) http://identifiers.org/clinvar/102954 ^@ NM_000246.3(CIITA):c.-521A>G http://identifiers.org/clinvar/103004 ^@ NM_000246.3(CIITA):c.3149+224C>G http://identifiers.org/clinvar/103054 ^@ NM_001174081.2(NLRP2):c.2201+247G>A http://identifiers.org/clinvar/103104 ^@ NM_006092.2(NOD1):c.2537+344C>G http://identifiers.org/clinvar/103154 ^@ NM_032206.4(NLRC5):c.-12-157T>C http://identifiers.org/clinvar/103204 ^@ NM_032206.4(NLRC5):c.5172G>A (p.Ala1724=) http://identifiers.org/clinvar/103254 ^@ NM_138329.2(NLRP6):c.349+103G>A http://identifiers.org/clinvar/103304 ^@ NM_176810.2(NLRP13):c.1530G>A (p.Val510=) http://identifiers.org/clinvar/103354 ^@ NM_178844.3(NLRC3):c.1408G>A (p.Ala470Thr) http://identifiers.org/clinvar/111228 ^@ NM_000619.2(IFNG):c.367-282T>A http://identifiers.org/clinvar/120088 ^@ NM_000698.4(ALOX5):c.996G>A (p.Pro332=) http://identifiers.org/clinvar/126179 ^@ NM_000059.3(BRCA2):c.8487+47C>T http://identifiers.org/clinvar/126242 ^@ NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) http://identifiers.org/clinvar/126292 ^@ NM_024809.4(TCTN2):c.873A>G (p.Ala291=) http://identifiers.org/clinvar/126343 ^@ NM_003070.4(SMARCA2):c.174G>A (p.Pro58=) http://identifiers.org/clinvar/126399 ^@ NM_006397.2(RNASEH2A):c.716_717dupGC (p.Thr240Alafs) http://identifiers.org/clinvar/126467 ^@ NM_021625.4(TRPV4):c.1772A>G (p.Tyr591Cys) http://identifiers.org/clinvar/126530 ^@ NM_152305.2(POGLUT1):c.798-2A>C http://identifiers.org/clinvar/126604 ^@ NM_024675.3(PALB2):c.1470C>T (p.Pro490=) http://identifiers.org/clinvar/126706 ^@ NM_024675.3(PALB2):c.3026delC (p.Pro1009Leufs) http://identifiers.org/clinvar/126757 ^@ NM_024675.3(PALB2):c.509_510delGA (p.Arg170Ilefs) http://identifiers.org/clinvar/126807 ^@ NM_000321.2(RB1):c.2663+2T>C http://identifiers.org/clinvar/126860 ^@ NM_004996.3(ABCC1):c.2292+288G>A http://identifiers.org/clinvar/126917 ^@ NM_001127464.2(ZNF469):c.10843C>T (p.Leu3615=) http://identifiers.org/clinvar/126967 ^@ NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) http://identifiers.org/clinvar/127017 ^@ NM_002485.4(NBN):c.172-529G>A http://identifiers.org/clinvar/127067 ^@ NM_000359.2(TGM1):c.1621A>C (p.Thr541Pro) http://identifiers.org/clinvar/127137 ^@ NM_002234.3(KCNA5):c.143A>G (p.Glu48Gly) http://identifiers.org/clinvar/127237 ^@ NM_022166.3(XYLT1):c.276dupG (p.Pro93Alafs) http://identifiers.org/clinvar/127291 ^@ NM_000038.5(APC):c.3935G>C (p.Gly1312Ala) http://identifiers.org/clinvar/127341 ^@ NM_000051.3(ATM):c.170G>A (p.Trp57Ter) http://identifiers.org/clinvar/127391 ^@ NM_000051.3(ATM):c.4420C>G (p.His1474Asp) http://identifiers.org/clinvar/127441 ^@ NM_000051.3(ATM):c.7351G>C (p.Ala2451Pro) http://identifiers.org/clinvar/127492 ^@ NM_000057.3(BLM):c.2720C>T (p.Thr907Met) http://identifiers.org/clinvar/127542 ^@ NM_000136.2(FANCC):c.397C>T (p.Leu133Phe) http://identifiers.org/clinvar/127592 ^@ NM_000179.2(MSH6):c.3762_3764delAGA (p.Glu1254del) http://identifiers.org/clinvar/127643 ^@ NM_000251.2(MSH2):c.362A>G (p.Tyr121Cys) http://identifiers.org/clinvar/127702 ^@ NM_000455.4(STK11):c.291-18_291-17delCT http://identifiers.org/clinvar/127752 ^@ NM_000535.6(PMS2):c.1041G>C (p.Glu347Asp) http://identifiers.org/clinvar/127803 ^@ NM_000546.5(TP53):c.-29+4A>C http://identifiers.org/clinvar/160370 ^@ NM_003051.3(SLC16A1):c.982C>T (p.Arg328Ter) http://identifiers.org/clinvar/160822 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 http://identifiers.org/clinvar/160874 ^@ GRCh38/hg38 17q12(chr17:36500215-37889296)x1 http://identifiers.org/clinvar/160926 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 http://identifiers.org/clinvar/161818 ^@ NM_152792.2(ASPRV1):c.95C>T (p.Pro32Leu) http://identifiers.org/clinvar/161768 ^@ NM_024012.3(HTR5A):c.79G>C (p.Asp27His) http://identifiers.org/clinvar/161718 ^@ NM_018448.4(CAND1):c.737G>A (p.Gly246Asp) http://identifiers.org/clinvar/161668 ^@ NM_013373.3(ZDHHC8):c.1022C>A (p.Ala341Asp) http://identifiers.org/clinvar/225255 ^@ NM_017909.3(RMND1):c.713A>G (p.Asn238Ser) http://identifiers.org/clinvar/162048 ^@ NM_021830.4(TWNK):c.1172G>A (p.Arg391His) http://identifiers.org/clinvar/162105 ^@ NM_000059.3(BRCA2):c.3641delT (p.Val1214Glyfs) http://identifiers.org/clinvar/162167 ^@ NM_006929.4(SKIV2L):c.1212-29G>A http://identifiers.org/clinvar/162459 ^@ NM_014305.3(TGDS):c.270_271delGA (p.Lys91Asnfs) http://identifiers.org/clinvar/162513 ^@ NM_005360.4(MAF):c.172A>G (p.Thr58Ala) http://identifiers.org/clinvar/162594 ^@ NM_007171.3(POMT1):c.1544dupA (p.Tyr515Terfs) http://identifiers.org/clinvar/178937 ^@ NM_206933.2(USH2A):c.13808A>C (p.His4603Pro) http://identifiers.org/clinvar/165182 ^@ NM_003001.3(SDHC):c.354T>C (p.Phe118=) http://identifiers.org/clinvar/178686 ^@ NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) http://identifiers.org/clinvar/178568 ^@ NM_206933.2(USH2A):c.15427C>T (p.Arg5143Cys) http://identifiers.org/clinvar/179587 ^@ NM_001035.2(RYR2):c.3238G>A (p.Gly1080Ser) http://identifiers.org/clinvar/165097 ^@ NM_001035.2(RYR2):c.4410A>G (p.Gly1470=) http://identifiers.org/clinvar/179137 ^@ NM_144573.3(NEXN):c.1430T>G (p.Ile477Ser) http://identifiers.org/clinvar/163325 ^@ NC_000002.12:g.(?_108896907)_(108906334_?)del http://identifiers.org/clinvar/179887 ^@ NM_133378.4(TTN):c.95954T>C (p.Ile31985Thr) http://identifiers.org/clinvar/179737 ^@ NM_133378.4(TTN):c.90457G>A (p.Val30153Ile) http://identifiers.org/clinvar/179037 ^@ NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) http://identifiers.org/clinvar/178836 ^@ NM_001256850.1(TTN):c.56176C>T (p.Arg18726Trp) http://identifiers.org/clinvar/179187 ^@ NM_133378.4(TTN):c.40649A>G (p.Asp13550Gly) http://identifiers.org/clinvar/164866 ^@ NM_194322.2(OTOF):c.182C>T (p.Thr61Met) http://identifiers.org/clinvar/163148 ^@ NM_001369.2(DNAH5):c.5485-11A>G http://identifiers.org/clinvar/163699 ^@ NM_001199799.1(ILDR1):c.486G>T (p.Lys162Asn) http://identifiers.org/clinvar/179287 ^@ NM_024334.2(TMEM43):c.850C>G (p.Leu284Val) http://identifiers.org/clinvar/162844 ^@ NM_181426.1(CCDC39):c.545C>G (p.Thr182Ser) http://identifiers.org/clinvar/164646 ^@ NM_004999.3(MYO6):c.3391C>T (p.Pro1131Ser) http://identifiers.org/clinvar/165247 ^@ NM_000441.1(SLC26A4):c.849G>C (p.Met283Ile) http://identifiers.org/clinvar/163098 ^@ NM_001277115.1(DNAH11):c.1961C>G (p.Ser654Cys) http://identifiers.org/clinvar/178736 ^@ NM_001277115.1(DNAH11):c.12508-12T>C http://identifiers.org/clinvar/198424 ^@ NM_000492.3(CFTR):c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs) http://identifiers.org/clinvar/198474 ^@ NM_080629.2(COL11A1):c.1001C>T (p.Pro334Leu) http://identifiers.org/clinvar/198528 ^@ NM_005270.4(GLI2):c.1120C>T (p.Arg374Cys) http://identifiers.org/clinvar/198579 ^@ NM_020366.3(RPGRIP1):c.907-16_907-14delAAT http://identifiers.org/clinvar/198632 ^@ NM_198859.3(PRICKLE2):c.1047G>T (p.Glu349Asp) http://identifiers.org/clinvar/198682 ^@ NM_182914.2(SYNE2):c.14792A>G (p.Lys4931Arg) http://identifiers.org/clinvar/198737 ^@ NM_000492.3(CFTR):c.1066_1072delTGGGCTGinsA (p.Trp356_Val358delinsIle) http://identifiers.org/clinvar/199051 ^@ NM_015600.4(ABHD12):c.788-10_788-7delGTTT http://identifiers.org/clinvar/199104 ^@ NM_005188.3(CBL):c.1320C>T (p.Gly440=) http://identifiers.org/clinvar/199156 ^@ NM_020451.2(SELENON):c.1096G>T (p.Glu366Ter) http://identifiers.org/clinvar/199432 ^@ NM_005045.3(RELN):c.2392C>A (p.His798Asn) http://identifiers.org/clinvar/229823 ^@ NM_005732.3(RAD50):c.886G>A (p.Val296Ile) http://identifiers.org/clinvar/230873 ^@ NM_004168.3(SDHA):c.1135C>T (p.Arg379Cys) http://identifiers.org/clinvar/230823 ^@ NM_000535.6(PMS2):c.1354G>A (p.Gly452Ser) http://identifiers.org/clinvar/230223 ^@ NM_002485.4(NBN):c.1066G>A (p.Ala356Thr) http://identifiers.org/clinvar/230623 ^@ NM_000368.4(TSC1):c.2307C>T (p.Asp769=) http://identifiers.org/clinvar/229873 ^@ NM_000368.4(TSC1):c.2072T>C (p.Leu691Pro) http://identifiers.org/clinvar/230923 ^@ NM_058195.3(CDKN2A):c.268C>G (p.Arg90Gly) http://identifiers.org/clinvar/232162 ^@ NM_020975.4(RET):c.2485A>G (p.Ser829Gly) http://identifiers.org/clinvar/231962 ^@ NM_000314.6(PTEN):c.1074G>C (p.Glu358Asp) http://identifiers.org/clinvar/232212 ^@ NM_000051.3(ATM):c.497-4T>A http://identifiers.org/clinvar/230473 ^@ NM_000051.3(ATM):c.4774G>T (p.Glu1592Ter) http://identifiers.org/clinvar/229723 ^@ NM_000051.3(ATM):c.8327T>C (p.Ile2776Thr) http://identifiers.org/clinvar/231612 ^@ NM_005591.3(MRE11):c.346C>A (p.Leu116Ile) http://identifiers.org/clinvar/231912 ^@ NM_000075.3(CDK4):c.132_134delAGG (p.Gly48del) http://identifiers.org/clinvar/229973 ^@ NM_000059.3(BRCA2):c.4359A>G (p.Lys1453=) http://identifiers.org/clinvar/230273 ^@ NM_000059.3(BRCA2):c.6914A>G (p.Lys2305Arg) http://identifiers.org/clinvar/231762 ^@ NM_000059.3(BRCA2):c.7218dupT (p.Val2407Cysfs) http://identifiers.org/clinvar/231812 ^@ NM_000059.3(BRCA2):c.8331+3A>C http://identifiers.org/clinvar/232112 ^@ NM_002382.4(MAX):c.269G>T (p.Arg90Leu) http://identifiers.org/clinvar/230673 ^@ NM_001042492.2(NF1):c.1318C>T (p.Arg440Ter) http://identifiers.org/clinvar/229923 ^@ NM_001042492.2(NF1):c.2301G>A (p.Glu767=) http://identifiers.org/clinvar/231712 ^@ NM_007294.3(BRCA1):c.5041A>C (p.Thr1681Pro) http://identifiers.org/clinvar/230073 ^@ NM_007294.3(BRCA1):c.2739T>C (p.Asn913=) http://identifiers.org/clinvar/230123 ^@ NM_007294.3(BRCA1):c.1632A>G (p.Gln544=) http://identifiers.org/clinvar/232062 ^@ NM_032043.2(BRIP1):c.3260dupA (p.Asn1087Lysfs) http://identifiers.org/clinvar/231862 ^@ NM_032043.2(BRIP1):c.2536G>C (p.Asp846His) http://identifiers.org/clinvar/231662 ^@ NM_032043.2(BRIP1):c.1283A>C (p.Asn428Thr) http://identifiers.org/clinvar/230423 ^@ NM_007194.3(CHEK2):c.368A>G (p.Tyr123Cys) http://identifiers.org/clinvar/229673 ^@ NM_007194.3(CHEK2):c.91_111dup21 (p.Gly37_Ile38insSerSerSerGlnSerGlnGly) http://identifiers.org/clinvar/234989 ^@ NM_004415.3(DSP):c.6269A>G (p.Glu2090Gly) http://identifiers.org/clinvar/235547 ^@ NM_177986.4(DSG4):c.1568C>T (p.Pro523Leu) http://identifiers.org/clinvar/235649 ^@ NM_020686.5(ABAT):c.55C>T (p.Arg19Cys) http://identifiers.org/clinvar/235704 ^@ NM_002296.3(LBR):c.1609T>G (p.Ser537Ala) http://identifiers.org/clinvar/235766 ^@ NM_031885.3(BBS2):c.805-20A>G http://identifiers.org/clinvar/235838 ^@ NM_022068.3(PIEZO2):c.8208delA (p.Tyr2737Ilefs) http://identifiers.org/clinvar/235919 ^@ NM_001168272.1(ITPR1):c.7786_7788delAAG (p.Lys2596del) http://identifiers.org/clinvar/236122 ^@ NM_000350.2(ABCA4):c.4773+3A>G http://identifiers.org/clinvar/236072 ^@ NM_000350.2(ABCA4):c.160+2T>C http://identifiers.org/clinvar/236172 ^@ NM_004621.5(TRPC6):c.1294-53T>C http://identifiers.org/clinvar/236311 ^@ NC_000015.8:g.23298670_24646413dup1347744 http://identifiers.org/clinvar/236361 ^@ NC_000008.9:g.3841790_4124804del283015 http://identifiers.org/clinvar/236462 ^@ NM_001298.2(CNGA3):c.1931T>C (p.Phe644Ser) http://identifiers.org/clinvar/236412 ^@ NM_006269.1(RP1):c.539T>G (p.Phe180Cys) http://identifiers.org/clinvar/236512 ^@ NM_001297.4(CNGB1):c.262C>T (p.Gln88Ter) http://identifiers.org/clinvar/237116 ^@ NM_000143.3(FH):c.478A>G (p.Arg160Gly) http://identifiers.org/clinvar/239562 ^@ NM_003738.4(PTCH2):c.840T>C (p.Ser280=) http://identifiers.org/clinvar/238858 ^@ NM_001267550.2(TTN):c.86851G>C (p.Val28951Leu) http://identifiers.org/clinvar/238808 ^@ NM_001267550.2(TTN):c.58084G>T (p.Val19362Phe) http://identifiers.org/clinvar/238758 ^@ NM_001267550.2(TTN):c.37208A>C (p.Glu12403Ala) http://identifiers.org/clinvar/238708 ^@ NM_001267550.2(TTN):c.14451A>G (p.Thr4817=) http://identifiers.org/clinvar/240952 ^@ NM_014946.3(SPAST):c.1675G>C (p.Gly559Arg) http://identifiers.org/clinvar/237167 ^@ NM_000179.2(MSH6):c.2820T>A (p.Ala940=) http://identifiers.org/clinvar/238558 ^@ NM_001135659.2(NRXN1):c.724G>C (p.Val242Leu) http://identifiers.org/clinvar/241252 ^@ NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) http://identifiers.org/clinvar/241002 ^@ NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) http://identifiers.org/clinvar/238108 ^@ NM_000551.3(VHL):c.427G>C (p.Asp143His) http://identifiers.org/clinvar/237758 ^@ NM_000388.3(CASR):c.1631G>A (p.Arg544Gln) http://identifiers.org/clinvar/241752 ^@ NM_053025.3(MYLK):c.1613G>A (p.Arg538Gln) http://identifiers.org/clinvar/238608 ^@ NM_001166110.1(PALLD):c.1706G>A (p.Arg569Gln) http://identifiers.org/clinvar/241852 ^@ NM_139076.2(FAM175A):c.103G>C (p.Gly35Arg) http://identifiers.org/clinvar/236662 ^@ NM_000038.5(APC):c.934-?_*2113+?del http://identifiers.org/clinvar/236562 ^@ NM_000038.5(APC):c.1593C>G (p.Ala531=) http://identifiers.org/clinvar/236612 ^@ NM_000038.5(APC):c.5031A>G (p.Gly1677=) http://identifiers.org/clinvar/238958 ^@ NM_001369.2(DNAH5):c.12375G>A (p.Ala4125=) http://identifiers.org/clinvar/239059 ^@ NM_001903.4(CTNNA1):c.1593A>G (p.Gln531=) http://identifiers.org/clinvar/241502 ^@ NM_024577.3(SH3TC2):c.2072_2090del19 (p.Ala691Valfs) http://identifiers.org/clinvar/239662 ^@ NM_004168.3(SDHA):c.205G>A (p.Ala69Thr) http://identifiers.org/clinvar/238208 ^@ NM_001010892.2(RSPH4A):c.2021A>G (p.Glu674Gly) http://identifiers.org/clinvar/238658 ^@ NM_001206927.1(DNAH8):c.9710T>C (p.Val3237Ala) http://identifiers.org/clinvar/241402 ^@ NM_021930.5(RINT1):c.2032C>T (p.Leu678Phe) http://identifiers.org/clinvar/237858 ^@ NM_000492.3(CFTR):c.589T>C (p.Leu197=) http://identifiers.org/clinvar/238908 ^@ NM_001277115.1(DNAH11):c.3288G>A (p.Met1096Ile) http://identifiers.org/clinvar/237908 ^@ NM_000535.6(PMS2):c.2445+1G>C http://identifiers.org/clinvar/261801 ^@ NM_025074.6(FRAS1):c.11037C>G (p.Pro3679=) http://identifiers.org/clinvar/258511 ^@ NM_001999.3(FBN2):c.2428+6T>A http://identifiers.org/clinvar/258061 ^@ NM_001369.2(DNAH5):c.7888-40G>A http://identifiers.org/clinvar/258011 ^@ NM_001369.2(DNAH5):c.2443T>A (p.Leu815Met) http://identifiers.org/clinvar/261601 ^@ NM_022464.4(SIL1):c.394A>C (p.Lys132Gln) http://identifiers.org/clinvar/263040 ^@ NM_182925.4(FLT4):c.2761+44G>A http://identifiers.org/clinvar/257372 ^@ NM_001080479.2(ARHGEF28):c.4622C>G (p.Ala1541Gly) http://identifiers.org/clinvar/259361 ^@ NM_004385.4(VCAN):c.1283G>A (p.Gly428Asp) http://identifiers.org/clinvar/261251 ^@ NM_020381.3(PDSS2):c.1149G>A (p.Glu383=) http://identifiers.org/clinvar/256072 ^@ NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) http://identifiers.org/clinvar/260851 ^@ NM_017651.4(AHI1):c.2916T>G (p.Ser972=) http://identifiers.org/clinvar/259161 ^@ NM_003764.3(STX11):c.146G>A (p.Arg49Gln) http://identifiers.org/clinvar/261101 ^@ NM_019105.6(TNXB):c.11082T>A (p.Thr3694=) http://identifiers.org/clinvar/261151 ^@ NM_019105.6(TNXB):c.6811G>C (p.Val2271Leu) http://identifiers.org/clinvar/258361 ^@ NM_001851.4(COL9A1):c.876+13C>T http://identifiers.org/clinvar/257911 ^@ NM_001277115.1(DNAH11):c.5671C>T (p.Pro1891Ser) http://identifiers.org/clinvar/257861 ^@ NM_001277115.1(DNAH11):c.12505C>T (p.Leu4169=) http://identifiers.org/clinvar/257272 ^@ NM_001040167.1(LFNG):c.988-37G>A http://identifiers.org/clinvar/261051 ^@ NM_018685.4(ANLN):c.554G>A (p.Arg185Lys) http://identifiers.org/clinvar/260751 ^@ NM_016616.4(NME8):c.-3T>C http://identifiers.org/clinvar/262690 ^@ NM_153033.4(KCTD7):c.493+18_493+21dupAGGA http://identifiers.org/clinvar/256222 ^@ NM_000466.2(PEX1):c.3720C>T (p.His1240=) http://identifiers.org/clinvar/256172 ^@ NM_000445.4(PLEC):c.2821-45G>T http://identifiers.org/clinvar/259261 ^@ NM_004260.3(RECQL4):c.930C>G (p.Pro310=) http://identifiers.org/clinvar/261301 ^@ NM_020476.2(ANK1):c.2913G>C (p.Leu971=) http://identifiers.org/clinvar/260901 ^@ NM_017780.3(CHD7):c.2835+24A>T http://identifiers.org/clinvar/262740 ^@ NM_153704.5(TMEM67):c.-26G>C http://identifiers.org/clinvar/259111 ^@ NM_003640.4(IKBKAP):c.3069G>C (p.Leu1023=) http://identifiers.org/clinvar/259812 ^@ NM_005592.3(MUSK):c.666T>C (p.Asn222=) http://identifiers.org/clinvar/261201 ^@ NM_019892.5(INPP5E):c.1803-20C>T http://identifiers.org/clinvar/256322 ^@ NM_000507.3(FBP1):c.651C>T (p.Ala217=) http://identifiers.org/clinvar/262840 ^@ NM_173551.4(ANKS6):c.1369-13G>A http://identifiers.org/clinvar/256272 ^@ NM_000494.3(COL17A1):c.3208+16C>T http://identifiers.org/clinvar/261551 ^@ NM_022124.5(CDH23):c.5187+44C>G http://identifiers.org/clinvar/258811 ^@ NM_002778.3(PSAP):c.1540-34C>T http://identifiers.org/clinvar/259411 ^@ NM_004523.3(KIF11):c.309-18A>G http://identifiers.org/clinvar/259461 ^@ NM_004621.5(TRPC6):c.2645-22_2645-20delCTT http://identifiers.org/clinvar/260801 ^@ NM_016952.4(CDON):c.496+45C>T http://identifiers.org/clinvar/262990 ^@ NM_181507.1(HPS5):c.986-5C>T http://identifiers.org/clinvar/263290 ^@ NM_207122.1(EXT2):c.1936-41T>C http://identifiers.org/clinvar/261751 ^@ NM_024649.4(BBS1):c.592-24G>A http://identifiers.org/clinvar/258561 ^@ NM_002180.2(IGHMBP2):c.1757-18C>A http://identifiers.org/clinvar/258661 ^@ NM_002465.3(MYBPC1):c.1928-19T>G http://identifiers.org/clinvar/258211 ^@ NM_001844.4(COL2A1):c.1545C>A (p.Arg515=) http://identifiers.org/clinvar/259061 ^@ NM_003482.3(KMT2D):c.8211C>T (p.Thr2737=) http://identifiers.org/clinvar/256672 ^@ NM_000552.4(VWF):c.3539-49C>T http://identifiers.org/clinvar/261851 ^@ NM_025114.3(CEP290):c.6162T>C (p.His2054=) http://identifiers.org/clinvar/258261 ^@ NM_001845.5(COL4A1):c.616-11G>C http://identifiers.org/clinvar/258711 ^@ NM_002471.3(MYH6):c.4651-17G>A http://identifiers.org/clinvar/257122 ^@ NM_001024858.2(SPTB):c.4618A>C (p.Arg1540=) http://identifiers.org/clinvar/332907 ^@ NM_133378.4(TTN):c.23030-24_23030-10dupTTTGTTTTGTTTTGT http://identifiers.org/clinvar/332657 ^@ NM_001042702.3(DFNB59):c.-45T>A http://identifiers.org/clinvar/332707 ^@ NM_133378.4(TTN):c.91711A>G (p.Lys30571Glu) http://identifiers.org/clinvar/332757 ^@ NM_133378.4(TTN):c.75028A>G (p.Lys25010Glu) http://identifiers.org/clinvar/332957 ^@ NM_133378.4(TTN):c.4322G>A (p.Arg1441His) http://identifiers.org/clinvar/333646 ^@ NM_001204.6(BMPR2):c.1862C>A (p.Thr621Lys) http://identifiers.org/clinvar/333846 ^@ NM_014929.3(FASTKD2):c.*2630G>A http://identifiers.org/clinvar/333946 ^@ NM_015040.3(PIKFYVE):c.*615T>A http://identifiers.org/clinvar/333546 ^@ NM_001044385.2(TMEM237):c.*1762G>A http://identifiers.org/clinvar/333696 ^@ NM_001204.6(BMPR2):c.*4034_*4037delTTTA http://identifiers.org/clinvar/333746 ^@ NM_012092.3(ICOS):c.*931A>G http://identifiers.org/clinvar/334248 ^@ NM_173076.2(ABCA12):c.3933C>T (p.Leu1311=) http://identifiers.org/clinvar/334298 ^@ NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=) http://identifiers.org/clinvar/334097 ^@ NM_000384.2(APOB):c.11541C>T (p.Ile3847=) http://identifiers.org/clinvar/334348 ^@ NM_015488.4(PNKD):c.*1141G>A http://identifiers.org/clinvar/334198 ^@ NM_000465.3(BARD1):c.215+13G>A http://identifiers.org/clinvar/334448 ^@ NM_002181.3(IHH):c.-18C>T http://identifiers.org/clinvar/334498 ^@ NM_015311.2(OBSL1):c.2887G>A (p.Glu963Lys) http://identifiers.org/clinvar/334398 ^@ NM_025216.2(WNT10A):c.437C>G (p.Ser146Cys) http://identifiers.org/clinvar/334898 ^@ NM_004509.3(SP110):c.1731C>T (p.Cys577=) http://identifiers.org/clinvar/334698 ^@ NM_000092.4(COL4A4):c.*22C>A http://identifiers.org/clinvar/343134 ^@ NM_032638.4(GATA2):c.*32C>T http://identifiers.org/clinvar/343184 ^@ NM_004637.5(RAB7A):c.*1301A>G http://identifiers.org/clinvar/343334 ^@ NM_014382.3(ATP2C1):c.*127A>G http://identifiers.org/clinvar/343384 ^@ NM_153240.4(NPHP3):c.2571-12C>G http://identifiers.org/clinvar/342684 ^@ NM_020754.3(ARHGAP31):c.*590C>G http://identifiers.org/clinvar/343584 ^@ NM_001184.3(ATR):c.6960G>A (p.Lys2320=) http://identifiers.org/clinvar/343734 ^@ NM_032383.4(HPS3):c.*172G>A http://identifiers.org/clinvar/335787 ^@ NM_000379.3(XDH):c.1509C>G (p.Gly503=) http://identifiers.org/clinvar/342834 ^@ NM_053025.3(MYLK):c.*1191T>C http://identifiers.org/clinvar/342984 ^@ NM_000373.3(UMPS):c.*2708_*2713delTGTGTG http://identifiers.org/clinvar/357429 ^@ NM_138694.3(PKHD1):c.7482A>T (p.Gly2494=) http://identifiers.org/clinvar/357529 ^@ NM_018100.3(EFHC1):c.*3406T>C http://identifiers.org/clinvar/357579 ^@ NM_001723.5(DST):c.4074G>A (p.Lys1358=) http://identifiers.org/clinvar/357629 ^@ NM_183227.2(RAB23):c.*984G>A http://identifiers.org/clinvar/357679 ^@ NM_000129.3(F13A1):c.-18-5dupT http://identifiers.org/clinvar/357729 ^@ NM_001142800.1(EYS):c.2287T>C (p.Trp763Arg) http://identifiers.org/clinvar/357979 ^@ NM_004415.3(DSP):c.*384C>A http://identifiers.org/clinvar/358029 ^@ NM_004999.3(MYO6):c.*2497A>G http://identifiers.org/clinvar/358129 ^@ NM_022726.3(ELOVL4):c.*905T>C http://identifiers.org/clinvar/358229 ^@ NM_006416.4(SLC35A1):c.*707A>C http://identifiers.org/clinvar/358329 ^@ NM_000602.4(SERPINE1):c.*1186C>T http://identifiers.org/clinvar/358379 ^@ NM_005045.3(RELN):c.9790G>A (p.Asp3264Asn) http://identifiers.org/clinvar/358429 ^@ NM_005045.3(RELN):c.-3_-1delGGC http://identifiers.org/clinvar/351213 ^@ NM_001369.2(DNAH5):c.1362A>G (p.Lys454=) http://identifiers.org/clinvar/358529 ^@ NM_000441.1(SLC26A4):c.*2250_*2251delAG http://identifiers.org/clinvar/355390 ^@ NM_006208.2(ENPP1):c.*1348T>C http://identifiers.org/clinvar/358579 ^@ NM_000108.4(DLD):c.*487C>T http://identifiers.org/clinvar/351413 ^@ NM_054027.4(ANKH):c.*4513G>A http://identifiers.org/clinvar/358829 ^@ NM_000230.2(LEP):c.*785A>G http://identifiers.org/clinvar/351513 ^@ NM_006846.3(SPINK5):c.-61A>C http://identifiers.org/clinvar/351613 ^@ NM_024577.3(SH3TC2):c.*18234G>A http://identifiers.org/clinvar/355890 ^@ NM_033071.3(SYNE1):c.10323A>G (p.Leu3441=) http://identifiers.org/clinvar/359179 ^@ NM_014141.5(CNTNAP2):c.645C>T (p.Asn215=) http://identifiers.org/clinvar/351763 ^@ NM_024577.3(SH3TC2):c.*8053G>A http://identifiers.org/clinvar/351863 ^@ NM_024577.3(SH3TC2):c.*1946_*1947delTC http://identifiers.org/clinvar/352111 ^@ NM_005211.3(CSF1R):c.*249A>G http://identifiers.org/clinvar/351913 ^@ NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) http://identifiers.org/clinvar/351963 ^@ NM_000440.2(PDE6A):c.*1335C>T http://identifiers.org/clinvar/356540 ^@ NM_182548.3(LHFPL5):c.*512delAinsTCTCTCTCTCT http://identifiers.org/clinvar/356590 ^@ NM_005943.5(MOCS1):c.*2661G>C http://identifiers.org/clinvar/352750 ^@ NM_001017995.2(SH3PXD2B):c.*3006C>T http://identifiers.org/clinvar/352900 ^@ NM_022455.4(NSD1):c.*839dupA http://identifiers.org/clinvar/352800 ^@ NM_001017995.2(SH3PXD2B):c.2544C>T (p.Asp848=) http://identifiers.org/clinvar/357379 ^@ NM_138694.3(PKHD1):c.*1749C>T http://identifiers.org/clinvar/353100 ^@ NM_014244.4(ADAMTS2):c.2730A>G (p.Pro910=) http://identifiers.org/clinvar/353150 ^@ NM_014244.4(ADAMTS2):c.-45T>C http://identifiers.org/clinvar/353200 ^@ NM_004168.3(SDHA):c.-1C>T http://identifiers.org/clinvar/353250 ^@ NM_014324.5(AMACR):c.*227T>G http://identifiers.org/clinvar/357879 ^@ NM_014989.5(RIMS1):c.*1076A>G http://identifiers.org/clinvar/353450 ^@ NM_023073.3(C5orf42):c.4765C>T (p.Leu1589Phe) http://identifiers.org/clinvar/358079 ^@ NM_181714.3(LCA5):c.*874A>G http://identifiers.org/clinvar/353500 ^@ NM_000514.3(GDNF):c.*1389A>G http://identifiers.org/clinvar/353550 ^@ NM_002310.5(LIFR):c.*4417A>G http://identifiers.org/clinvar/306223 ^@ NM_024079.4(ALG8):c.616G>A (p.Ala206Thr) http://identifiers.org/clinvar/363727 ^@ NM_018972.2(GDAP1):c.*797A>G http://identifiers.org/clinvar/306273 ^@ NM_024698.5(SLC25A22):c.-130C>G http://identifiers.org/clinvar/363827 ^@ NM_000318.2(PEX2):c.-369C>T http://identifiers.org/clinvar/306474 ^@ NM_005591.3(MRE11):c.*658_*659dupTC http://identifiers.org/clinvar/306574 ^@ NM_030962.3(SBF2):c.5503G>A (p.Ala1835Thr) http://identifiers.org/clinvar/364027 ^@ NM_001001557.3(GDF6):c.*313_*318delCTCTCT http://identifiers.org/clinvar/301869 ^@ NM_030962.3(SBF2):c.942A>G (p.Pro314=) http://identifiers.org/clinvar/364327 ^@ NM_005502.3(ABCA1):c.*2907A>C http://identifiers.org/clinvar/364427 ^@ NM_005502.3(ABCA1):c.2602G>A (p.Glu868Lys) http://identifiers.org/clinvar/364377 ^@ NM_005502.3(ABCA1):c.6729C>A (p.Asp2243Glu) http://identifiers.org/clinvar/364627 ^@ NM_000031.5(ALAD):c.*1464A>G http://identifiers.org/clinvar/364477 ^@ NM_005502.3(ABCA1):c.-205G>T http://identifiers.org/clinvar/307563 ^@ NM_024809.4(TCTN2):c.*87C>T http://identifiers.org/clinvar/364577 ^@ NM_003640.4(IKBKAP):c.947C>T (p.Pro316Leu) http://identifiers.org/clinvar/364727 ^@ NM_012210.3(TRIM32):c.*479G>T http://identifiers.org/clinvar/365027 ^@ NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) http://identifiers.org/clinvar/308113 ^@ NM_004985.4(KRAS):c.*865T>C http://identifiers.org/clinvar/308163 ^@ NM_000719.6(CACNA1C):c.6235_6237delGAC (p.Asp2079del) http://identifiers.org/clinvar/365077 ^@ NM_000118.3(ENG):c.*726C>T http://identifiers.org/clinvar/308713 ^@ NM_153026.2(PRICKLE1):c.-181G>A http://identifiers.org/clinvar/308813 ^@ NM_001017535.1(VDR):c.*2900A>C http://identifiers.org/clinvar/308963 ^@ NM_000289.5(PFKM):c.*503G>T http://identifiers.org/clinvar/309163 ^@ NM_000217.2(KCNA1):c.*883T>G http://identifiers.org/clinvar/301819 ^@ NM_138413.3(HOGA1):c.*560T>C http://identifiers.org/clinvar/309113 ^@ NM_006009.3(TUBA1A):c.376-10T>A http://identifiers.org/clinvar/365967 ^@ NM_016219.4(MAN1B1):c.1636A>G (p.Met546Val) http://identifiers.org/clinvar/309313 ^@ NM_000617.2(SLC11A2):c.1206G>A (p.Leu402=) http://identifiers.org/clinvar/366017 ^@ NM_024757.4(EHMT1):c.2656G>A (p.Val886Met) http://identifiers.org/clinvar/301969 ^@ NM_002427.3(MMP13):c.*374_*376dupCAT http://identifiers.org/clinvar/366117 ^@ NM_144966.5(FREM1):c.4857+8T>C http://identifiers.org/clinvar/302069 ^@ NM_001080463.1(DYNC2H1):c.8351C>T (p.Ser2784Phe) http://identifiers.org/clinvar/302369 ^@ NM_024740.2(ALG9):c.*3519C>A http://identifiers.org/clinvar/310102 ^@ NM_001065.3(TNFRSF1A):c.*178C>T http://identifiers.org/clinvar/302469 ^@ NM_001931.4(DLAT):c.*419A>G http://identifiers.org/clinvar/310152 ^@ NM_001038.5(SCNN1A):c.319G>A (p.Gly107Arg) http://identifiers.org/clinvar/302519 ^@ NM_001680.4(FXYD2):c.*71G>A http://identifiers.org/clinvar/310352 ^@ NM_000239.2(LYZ):c.*735delA http://identifiers.org/clinvar/310402 ^@ NM_001131025.1(PEX5):c.-535C>T http://identifiers.org/clinvar/366667 ^@ NM_001497.3(B4GALT1):c.-69G>T http://identifiers.org/clinvar/310502 ^@ NM_024685.3(BBS10):c.-52C>T http://identifiers.org/clinvar/310857 ^@ NM_000282.3(PCCA):c.*190C>G http://identifiers.org/clinvar/367017 ^@ NM_001042413.1(GLIS3):c.-588C>A http://identifiers.org/clinvar/366567 ^@ NM_005802.4(TOPORS):c.1793G>C (p.Arg598Thr) http://identifiers.org/clinvar/310957 ^@ NM_002312.3(LIG4):c.*599_*602delCTTA http://identifiers.org/clinvar/303069 ^@ NM_006918.4(SC5D):c.*1328C>T http://identifiers.org/clinvar/321881 ^@ NM_006445.3(PRPF8):c.5022C>T (p.His1674=) http://identifiers.org/clinvar/314356 ^@ NM_001040108.1(MLH3):c.*1877T>C http://identifiers.org/clinvar/340595 ^@ NM_014339.6(IL17RA):c.1233C>T (p.Ala411=) http://identifiers.org/clinvar/314456 ^@ NM_003239.4(TGFB3):c.-214G>A http://identifiers.org/clinvar/322081 ^@ NM_144997.5(FLCN):c.-176G>A http://identifiers.org/clinvar/340695 ^@ NM_014339.6(IL17RA):c.*3913C>G http://identifiers.org/clinvar/314556 ^@ NM_013382.5(POMT2):c.1396C>T (p.Arg466Trp) http://identifiers.org/clinvar/322231 ^@ NM_000382.2(ALDH3A2):c.*1030G>T http://identifiers.org/clinvar/314606 ^@ NM_004863.3(SPTLC2):c.*3524A>C http://identifiers.org/clinvar/314806 ^@ NM_198309.3(TTC8):c.*83A>G http://identifiers.org/clinvar/315006 ^@ NM_000295.4(SERPINA1):c.*1141A>G http://identifiers.org/clinvar/323170 ^@ NM_002230.2(JUP):c.1055-14delT http://identifiers.org/clinvar/315845 ^@ NM_144508.4(KNL1):c.1233G>C (p.Met411Ile) http://identifiers.org/clinvar/315945 ^@ NM_138477.2(CDAN1):c.1766A>G (p.Asp589Gly) http://identifiers.org/clinvar/316045 ^@ NM_201631.3(TGM5):c.1309C>T (p.Arg437Trp) http://identifiers.org/clinvar/316095 ^@ NM_025137.3(SPG11):c.4001+9G>T http://identifiers.org/clinvar/316145 ^@ NM_014080.4(DUOX2):c.3759G>A (p.Pro1253=) http://identifiers.org/clinvar/368135 ^@ NM_171998.3(RAB39B):c.*1580C>G http://identifiers.org/clinvar/368185 ^@ NM_014271.3(IL1RAPL1):c.-82C>A http://identifiers.org/clinvar/316245 ^@ NM_012388.3(BLOC1S6):c.*2509T>C http://identifiers.org/clinvar/316295 ^@ NM_000338.2(SLC12A1):c.*1179A>T http://identifiers.org/clinvar/314406 ^@ NM_017791.2(FLVCR2):c.-96T>C http://identifiers.org/clinvar/314506 ^@ NM_013382.5(POMT2):c.*2369dupA http://identifiers.org/clinvar/368535 ^@ NM_000084.4(CLCN5):c.*6538G>A http://identifiers.org/clinvar/368735 ^@ NM_000307.4(POU3F4):c.*141T>C http://identifiers.org/clinvar/368785 ^@ NM_024921.3(POF1B):c.1371C>G (p.Gly457=) http://identifiers.org/clinvar/314856 ^@ NM_018319.3(TDP1):c.*1448G>A http://identifiers.org/clinvar/316995 ^@ NM_017882.2(CLN6):c.298-15C>T http://identifiers.org/clinvar/315895 ^@ NM_000070.2(CAPN3):c.1045G>C (p.Glu349Gln) http://identifiers.org/clinvar/316345 ^@ NM_000138.4(FBN1):c.*967C>T http://identifiers.org/clinvar/316395 ^@ NM_000138.4(FBN1):c.-98G>T http://identifiers.org/clinvar/371990 ^@ NM_006231.3(POLE):c.1227-2A>T http://identifiers.org/clinvar/371840 ^@ NM_024675.3(PALB2):c.3425delT (p.Leu1142Tyrfs) http://identifiers.org/clinvar/372090 ^@ NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) http://identifiers.org/clinvar/371890 ^@ NM_001256849.1(POLD1):c.463+8G>T http://identifiers.org/clinvar/372147 ^@ RBMX, 23-BP DEL, EX9 http://identifiers.org/clinvar/372219 ^@ NM_001080421.2(UNC13A):c.304C>T (p.Gln102Ter) http://identifiers.org/clinvar/372273 ^@ NM_181783.3(TMTC3):c.1462delA (p.Arg488Glufs) http://identifiers.org/clinvar/372326 ^@ NM_001287.5(CLCN7):c.2144A>G (p.Tyr715Cys) http://identifiers.org/clinvar/374690 ^@ NM_006941.3(SOX10):c.1114C>G (p.Gln372Glu) http://identifiers.org/clinvar/374740 ^@ NM_001079668.2(NKX2-1):c.872C>T (p.Pro291Leu) http://identifiers.org/clinvar/374800 ^@ NM_005188.3(CBL):c.405G>C (p.Glu135Asp) http://identifiers.org/clinvar/375298 ^@ NM_000789.3(ACE):c.2642-1G>A http://identifiers.org/clinvar/375353 ^@ NM_000520.5(HEXA):c.524A>C (p.Asp175Ala) http://identifiers.org/clinvar/375404 ^@ NM_199037.4(SCN1B):c.308A>T (p.Asp103Val) http://identifiers.org/clinvar/375464 ^@ NM_003165.3(STXBP1):c.1006C>T (p.Gln336Ter) http://identifiers.org/clinvar/375527 ^@ NM_006772.2(SYNGAP1):c.583G>C (p.Ala195Pro) http://identifiers.org/clinvar/375586 ^@ NM_033517.1(SHANK3):c.4029_4030delTG (p.Ser1343Argfs) http://identifiers.org/clinvar/375644 ^@ NM_001243372.1(CLCN3):c.2221A>G (p.Met741Val) http://identifiers.org/clinvar/375733 ^@ NM_000674.2(ADORA1):c.835G>A (p.Gly279Ser) http://identifiers.org/clinvar/375789 ^@ NM_000527.4(LDLR):c.660_666dupCGACTGC (p.Lys223Argfs) http://identifiers.org/clinvar/375839 ^@ NM_000527.4(LDLR):c.2402_2403delTC (p.Phe801Serfs) http://identifiers.org/clinvar/375892 ^@ NM_001282387.1(IDH1):c.394C>G (p.Arg132Gly) http://identifiers.org/clinvar/378406 ^@ NM_033109.4(PNPT1):c.1074-4A>T http://identifiers.org/clinvar/388275 ^@ NM_033109.4(PNPT1):c.-25C>G http://identifiers.org/clinvar/383295 ^@ NM_001002755.2(NFU1):c.62+14C>T http://identifiers.org/clinvar/378301 ^@ NM_001135659.2(NRXN1):c.4296T>C (p.Asp1432=) http://identifiers.org/clinvar/384146 ^@ NM_003494.3(DYSF):c.*18A>G http://identifiers.org/clinvar/381602 ^@ NM_000551.3(VHL):c.556G>T (p.Glu186Ter) http://identifiers.org/clinvar/380550 ^@ NM_015340.3(LARS2):c.-36G>A http://identifiers.org/clinvar/392874 ^@ NM_183075.2(CYP2U1):c.811A>G (p.Asn271Asp) http://identifiers.org/clinvar/380801 ^@ NM_024582.4(FAT4):c.12903C>T (p.Asp4301=) http://identifiers.org/clinvar/380952 ^@ NM_152393.3(KLHL40):c.277G>C (p.Glu93Gln) http://identifiers.org/clinvar/387236 ^@ NM_001135659.2(NRXN1):c.3103A>C (p.Arg1035=) http://identifiers.org/clinvar/387086 ^@ NM_001203.2(BMPR1B):c.70A>G (p.Thr24Ala) http://identifiers.org/clinvar/387586 ^@ NM_003494.3(DYSF):c.1931-15G>T http://identifiers.org/clinvar/393274 ^@ NM_001148.4(ANK2):c.4982A>G (p.Lys1661Arg) http://identifiers.org/clinvar/388975 ^@ NM_001999.3(FBN2):c.8139G>A (p.Thr2713=) http://identifiers.org/clinvar/387386 ^@ NM_001999.3(FBN2):c.7712-5G>A http://identifiers.org/clinvar/383796 ^@ NM_000038.5(APC):c.-18-7C>G http://identifiers.org/clinvar/385836 ^@ NM_001182.4(ALDH7A1):c.956T>A (p.Leu319His) http://identifiers.org/clinvar/392674 ^@ NM_001999.3(FBN2):c.6252C>T (p.Pro2084=) http://identifiers.org/clinvar/384797 ^@ NM_024577.3(SH3TC2):c.1177+10G>A http://identifiers.org/clinvar/393224 ^@ NM_017651.4(AHI1):c.2609G>A (p.Trp870Ter) http://identifiers.org/clinvar/384697 ^@ NM_007255.2(B4GALT7):c.828+20T>C http://identifiers.org/clinvar/384446 ^@ NM_002290.4(LAMA4):c.924C>T (p.Asn308=) http://identifiers.org/clinvar/387336 ^@ NM_013352.3(DSE):c.53G>T (p.Cys18Phe) http://identifiers.org/clinvar/382594 ^@ NM_000255.3(MUT):c.189C>A (p.Thr63=) http://identifiers.org/clinvar/386886 ^@ NM_001458.4(FLNC):c.642C>T (p.Pro214=) http://identifiers.org/clinvar/378351 ^@ NM_014476.5(PDLIM3):c.697G>C (p.Val233Leu) http://identifiers.org/clinvar/380600 ^@ NM_001204824.1(KCNQ3):c.1209-11T>A http://identifiers.org/clinvar/382744 ^@ NM_001458.4(FLNC):c.561C>T (p.Asp187=) http://identifiers.org/clinvar/388375 ^@ NM_000742.3(CHRNA2):c.246C>T (p.Asp82=) http://identifiers.org/clinvar/393024 ^@ NM_031443.3(CCM2):c.1246T>G (p.Ser416Ala) http://identifiers.org/clinvar/382293 ^@ NM_001999.3(FBN2):c.1849+12G>A http://identifiers.org/clinvar/383445 ^@ NM_021911.2(GABRB2):c.423C>G (p.Arg141=) http://identifiers.org/clinvar/377899 ^@ NM_000806.5(GABRA1):c.-24G>C http://identifiers.org/clinvar/382694 ^@ NM_000426.3(LAMA2):c.2097-13T>C http://identifiers.org/clinvar/384396 ^@ NM_004408.3(DNM1):c.-35C>T http://identifiers.org/clinvar/378657 ^@ NM_001130438.2(SPTAN1):c.3030C>T (p.Asn1010=) http://identifiers.org/clinvar/392624 ^@ NM_002485.4(NBN):c.-47C>G http://identifiers.org/clinvar/384847 ^@ NM_014908.3(DOLK):c.525T>G (p.Val175=) http://identifiers.org/clinvar/381052 ^@ NM_001079802.1(FKTN):c.911-13A>G http://identifiers.org/clinvar/382644 ^@ NM_000255.3(MUT):c.1956+16G>T http://identifiers.org/clinvar/384196 ^@ NM_018368.3(LMBRD1):c.1509+19C>T http://identifiers.org/clinvar/386836 ^@ NM_201590.2(CACNB2):c.508+9G>A http://identifiers.org/clinvar/386286 ^@ NM_018109.3(MTPAP):c.1098A>G (p.Leu366=) http://identifiers.org/clinvar/134439 ^@ NM_004119.2(FLT3):c.2957C>T (p.Pro986Leu) http://identifiers.org/clinvar/134489 ^@ NM_016592.3(GNAS):c.332C>T (p.Thr111Ile) http://identifiers.org/clinvar/134539 ^@ NM_002185.3(IL7R):c.1096T>C (p.Ser366Pro) http://identifiers.org/clinvar/134589 ^@ NM_004187.3(KDM5C):c.4030A>G (p.Met1344Val) http://identifiers.org/clinvar/134640 ^@ NM_000244.3(MEN1):c.1636G= (p.Ala546=) http://identifiers.org/clinvar/134691 ^@ NM_003482.3(KMT2D):c.6901C>T (p.Pro2301Ser) http://identifiers.org/clinvar/134742 ^@ NM_170606.2(KMT2C):c.1645G>A (p.Glu549Lys) http://identifiers.org/clinvar/134792 ^@ NM_170606.2(KMT2C):c.10979C>T (p.Ser3660Leu) http://identifiers.org/clinvar/134843 ^@ NM_000251.2(MSH2):c.1662C>T (p.Ser554=) http://identifiers.org/clinvar/134896 ^@ NM_000268.3(NF2):c.1749G>A (p.Gln583=) http://identifiers.org/clinvar/134946 ^@ NM_017617.4(NOTCH1):c.6409C>T (p.Pro2137Ser) http://identifiers.org/clinvar/134996 ^@ NM_024675.3(PALB2):c.2258G>A (p.Arg753Gln) http://identifiers.org/clinvar/135046 ^@ NM_000534.4(PMS1):c.605G>A (p.Arg202Lys) http://identifiers.org/clinvar/135097 ^@ NM_000264.3(PTCH1):c.3241G>A (p.Val1081Met) http://identifiers.org/clinvar/135148 ^@ NM_004260.3(RECQL4):c.3133G>A (p.Ala1045Thr) http://identifiers.org/clinvar/184521 ^@ NM_001042492.2(NF1):c.8451C>T (p.Ser2817=) http://identifiers.org/clinvar/184771 ^@ NM_007294.3(BRCA1):c.4545G>T (p.Gly1515=) http://identifiers.org/clinvar/184721 ^@ NM_000546.5(TP53):c.246G>A (p.Pro82=) http://identifiers.org/clinvar/187776 ^@ SMARCAD1, IVS1, G-A, +1 http://identifiers.org/clinvar/187848 ^@ NM_001031.4(RPS28):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/187905 ^@ NM_005957.4(MTHFR):c.1883T>C (p.Leu628Pro) http://identifiers.org/clinvar/187955 ^@ NM_004409.4(DMPK):c.*224_*226[307] http://identifiers.org/clinvar/188005 ^@ NM_004409.4(DMPK):c.*224_*226[562] http://identifiers.org/clinvar/188055 ^@ NM_004608.3(TBX6):c.266dupC (p.Val91Glyfs) http://identifiers.org/clinvar/188106 ^@ NM_002354.2(EPCAM):c.50C>T (p.Thr17Met) http://identifiers.org/clinvar/188262 ^@ NM_000179.2(MSH6):c.3740C>G (p.Thr1247Ser) http://identifiers.org/clinvar/188367 ^@ NM_015910.5(WDPCP):c.1315G>A (p.Val439Ile) http://identifiers.org/clinvar/188314 ^@ NM_005751.4(AKAP9):c.883A>G (p.Thr295Ala) http://identifiers.org/clinvar/188208 ^@ NM_000264.3(PTCH1):c.37C>G (p.Arg13Gly) http://identifiers.org/clinvar/188157 ^@ NM_000051.3(ATM):c.134G>A (p.Arg45Gln) http://identifiers.org/clinvar/188575 ^@ NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr) http://identifiers.org/clinvar/188525 ^@ NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val) http://identifiers.org/clinvar/188425 ^@ NM_000059.3(BRCA2):c.774_775delAA (p.Glu260Serfs) http://identifiers.org/clinvar/188625 ^@ NM_000257.3(MYH7):c.3612C>T (p.Gly1204=) http://identifiers.org/clinvar/188475 ^@ NM_000152.4(GAA):c.11G>A (p.Arg4Lys) http://identifiers.org/clinvar/188675 ^@ NM_000363.4(TNNI3):c.471G>A (p.Ala157=) http://identifiers.org/clinvar/189027 ^@ NM_000492.3(CFTR):c.-461A>G http://identifiers.org/clinvar/188976 ^@ NM_000487.5(ARSA):c.240dupC (p.Gly81Argfs) http://identifiers.org/clinvar/190106 ^@ NM_173354.4(SIK1):c.1039G>T (p.Glu347Ter) http://identifiers.org/clinvar/190175 ^@ NM_000082.3(ERCC8):c.141delC (p.Asn47Lysfs) http://identifiers.org/clinvar/190226 ^@ NM_017763.5(RNF43):c.394C>T (p.Arg132Ter) http://identifiers.org/clinvar/190307 ^@ NM_015100.3(POGZ):c.3354delC (p.Leu1119Cysfs) http://identifiers.org/clinvar/190359 ^@ NP_002046.1(GFAP):p.Glu373Asp http://identifiers.org/clinvar/228332 ^@ NM_001277115.1(DNAH11):c.4333C>T (p.Arg1445Ter) http://identifiers.org/clinvar/228732 ^@ NM_024915.3(GRHL2):c.1764-12C>G http://identifiers.org/clinvar/226999 ^@ NM_033056.3(PCDH15):c.*12411C>T http://identifiers.org/clinvar/227781 ^@ NM_001277269.1(OTOG):c.431C>T (p.Ala144Val) http://identifiers.org/clinvar/228282 ^@ NM_000260.3(MYO7A):c.6062A>G (p.Lys2021Arg) http://identifiers.org/clinvar/227831 ^@ NM_012226.4(P2RX2):c.1197C>T (p.Leu399=) http://identifiers.org/clinvar/226949 ^@ NM_173591.3(OTOGL):c.4717-5delT http://identifiers.org/clinvar/227251 ^@ NM_006383.3(CIB2):c.523A>C (p.Lys175Gln) http://identifiers.org/clinvar/227982 ^@ NM_001199107.1(TBC1D24):c.327C>T (p.Arg109=) http://identifiers.org/clinvar/227631 ^@ NM_016239.3(MYO15A):c.10403G>A (p.Arg3468Gln) http://identifiers.org/clinvar/228382 ^@ NM_000267.3(NF1):c.6791dupA (p.Tyr2264Terfs) http://identifiers.org/clinvar/227581 ^@ NM_001145809.1(MYH14):c.5961-14T>C http://identifiers.org/clinvar/227351 ^@ NM_207034.2(EDN3):c.565dupA (p.Thr189Asnfs) http://identifiers.org/clinvar/227050 ^@ NM_080860.3(RSPH1):c.393G>A (p.Ala131=) http://identifiers.org/clinvar/228032 ^@ NM_001039141.2(TRIOBP):c.4572G>A (p.Glu1524=) http://identifiers.org/clinvar/227882 ^@ NM_002764.3(PRPS1):c.942C>T (p.Ser314=) http://identifiers.org/clinvar/227451 ^@ NM_002230.2(JUP):c.546G>A (p.Ser182=) http://identifiers.org/clinvar/227681 ^@ NM_000260.3(MYO7A):c.3375+14C>A http://identifiers.org/clinvar/229773 ^@ NM_000143.3(FH):c.120C>T (p.Asn40=) http://identifiers.org/clinvar/230523 ^@ NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs) http://identifiers.org/clinvar/230373 ^@ NM_000465.3(BARD1):c.585T>C (p.Ala195=) http://identifiers.org/clinvar/230023 ^@ NM_000251.2(MSH2):c.1825G>T (p.Ala609Ser) http://identifiers.org/clinvar/230723 ^@ NM_000179.2(MSH6):c.1059dupT (p.Gly354Trpfs) http://identifiers.org/clinvar/230323 ^@ NM_000179.2(MSH6):c.1908T>C (p.Thr636=) http://identifiers.org/clinvar/230173 ^@ NM_017849.3(TMEM127):c.266C>G (p.Thr89Arg) http://identifiers.org/clinvar/230573 ^@ NM_000249.3(MLH1):c.677+3A>T http://identifiers.org/clinvar/232262 ^@ NM_000249.3(MLH1):c.1195C>T (p.Pro399Ser) http://identifiers.org/clinvar/230773 ^@ NM_000249.3(MLH1):c.1783A>C (p.Ser595Arg) http://identifiers.org/clinvar/263848 ^@ NM_001040113.1(MYH11):c.2496C>T (p.Ala832=) http://identifiers.org/clinvar/263698 ^@ NM_002474.2(MYH11):c.1318G>A (p.Val440Met) http://identifiers.org/clinvar/264048 ^@ NM_000363.4(TNNI3):c.221G>C (p.Arg74Pro) http://identifiers.org/clinvar/263343 ^@ NM_006440.4(TXNRD2):c.196G>T (p.Ala66Ser) http://identifiers.org/clinvar/266866 ^@ NM_000059.3(BRCA2):c.5219dupT (p.Leu1740Phefs) http://identifiers.org/clinvar/266916 ^@ NM_000059.3(BRCA2):c.6048delT (p.Phe2016Leufs) http://identifiers.org/clinvar/266966 ^@ NM_000059.3(BRCA2):c.6585dupT (p.Lys2196Terfs) http://identifiers.org/clinvar/267116 ^@ NM_000059.3(BRCA2):c.8919dupT (p.Ile2974Tyrfs) http://identifiers.org/clinvar/267166 ^@ NM_000059.3(BRCA2):c.9550_9563dupCTGCATGCAAATGA (p.Pro3189Cysfs) http://identifiers.org/clinvar/267236 ^@ NM_015247.2(CYLD):c.1599dupT (p.Val534Cysfs) http://identifiers.org/clinvar/267304 ^@ NM_001046.2(SLC12A2):c.3076_3086delGTCTGGTGGCT (p.Val1026Phefs) http://identifiers.org/clinvar/267383 ^@ c.1120C>T http://identifiers.org/clinvar/267437 ^@ NM_017780.3(CHD7):c.7282dupC (p.Arg2428Profs) http://identifiers.org/clinvar/267523 ^@ NM_007294.3(BRCA1):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/280469 ^@ NM_002016.1(FLG):c.94G>T (p.Glu32Ter) http://identifiers.org/clinvar/291653 ^@ NM_015074.3(KIF1B):c.*3930C>T http://identifiers.org/clinvar/291703 ^@ NM_013296.4(GPSM2):c.1244T>C (p.Met415Thr) http://identifiers.org/clinvar/291753 ^@ NM_007375.3(TARDBP):c.*1597_*1600delTGTT http://identifiers.org/clinvar/291803 ^@ NM_006610.3(MASP2):c.420C>T (p.Asp140=) http://identifiers.org/clinvar/291853 ^@ NM_003051.3(SLC16A1):c.1345G>A (p.Ala449Thr) http://identifiers.org/clinvar/291903 ^@ NM_013319.2(UBIAD1):c.*1586C>T http://identifiers.org/clinvar/292253 ^@ NM_000302.3(PLOD1):c.-39G>T http://identifiers.org/clinvar/292003 ^@ NM_138959.2(VANGL1):c.114C>T (p.Asp38=) http://identifiers.org/clinvar/292103 ^@ NM_138959.2(VANGL1):c.*6084C>G http://identifiers.org/clinvar/292153 ^@ NM_005957.4(MTHFR):c.*4644dupA http://identifiers.org/clinvar/292503 ^@ NM_004698.2(PRPF3):c.1760-12C>T http://identifiers.org/clinvar/291953 ^@ NM_002524.4(NRAS):c.*2667T>C http://identifiers.org/clinvar/292303 ^@ NM_006623.3(PHGDH):c.138G>A (p.Gln46=) http://identifiers.org/clinvar/292053 ^@ NM_138959.2(VANGL1):c.*2460C>T http://identifiers.org/clinvar/292203 ^@ NM_005957.4(MTHFR):c.*1858T>C http://identifiers.org/clinvar/292353 ^@ NM_000302.3(PLOD1):c.*71C>G http://identifiers.org/clinvar/292403 ^@ NM_014874.3(MFN2):c.*1295G>A http://identifiers.org/clinvar/293492 ^@ NM_005149.2(TBX19):c.*544G>A http://identifiers.org/clinvar/292553 ^@ NM_019032.5(ADAMTSL4):c.2427C>T (p.Arg809=) http://identifiers.org/clinvar/292453 ^@ NM_005266.6(GJA5):c.13A>G (p.Ser5Gly) http://identifiers.org/clinvar/293542 ^@ NM_000130.4(F5):c.*2053G>C http://identifiers.org/clinvar/293892 ^@ NM_002065.6(GLUL):c.*2130T>A http://identifiers.org/clinvar/293942 ^@ NM_002065.6(GLUL):c.880C>T (p.Leu294=) http://identifiers.org/clinvar/294092 ^@ NM_031935.2(HMCN1):c.-40T>C http://identifiers.org/clinvar/293992 ^@ NM_005562.2(LAMC2):c.503+6T>C http://identifiers.org/clinvar/294142 ^@ NM_031935.2(HMCN1):c.4352C>T (p.Pro1451Leu) http://identifiers.org/clinvar/294242 ^@ NM_031935.2(HMCN1):c.12080A>G (p.Asn4027Ser) http://identifiers.org/clinvar/293442 ^@ NM_004431.4(EPHA2):c.695A>G (p.Asp232Gly) http://identifiers.org/clinvar/294342 ^@ NM_003748.3(ALDH4A1):c.*921G>A http://identifiers.org/clinvar/294492 ^@ NM_000186.3(CFH):c.1428A>G (p.Gln476=) http://identifiers.org/clinvar/294542 ^@ NM_030787.3(CFHR5):c.507C>T (p.Asp169=) http://identifiers.org/clinvar/294792 ^@ NM_000069.2(CACNA1S):c.-147C>T http://identifiers.org/clinvar/293842 ^@ NM_014625.3(NPHS2):c.*340C>A http://identifiers.org/clinvar/294892 ^@ NM_001005337.2(PKP1):c.*2859G>A http://identifiers.org/clinvar/295092 ^@ NM_000228.2(LAMB3):c.2397A>G (p.Ile799Met) http://identifiers.org/clinvar/335837 ^@ NM_014946.3(SPAST):c.*19C>T http://identifiers.org/clinvar/336237 ^@ NM_001430.4(EPAS1):c.218-12C>A http://identifiers.org/clinvar/343434 ^@ NM_001063.3(TF):c.582A>G (p.Pro194=) http://identifiers.org/clinvar/336337 ^@ NM_139279.5(MCFD2):c.*2565A>G http://identifiers.org/clinvar/343484 ^@ NM_020191.2(MRPS22):c.172+11T>C http://identifiers.org/clinvar/343634 ^@ NM_000935.2(PLOD2):c.*1157T>C http://identifiers.org/clinvar/344573 ^@ NM_000461.4(THRB):c.*3879delT http://identifiers.org/clinvar/336287 ^@ NM_001430.4(EPAS1):c.*208T>C http://identifiers.org/clinvar/345073 ^@ NM_198056.2(SCN5A):c.*1602G>T http://identifiers.org/clinvar/345273 ^@ NM_016006.4(ABHD5):c.*3253A>T http://identifiers.org/clinvar/345373 ^@ NM_020208.3(SLC6A20):c.*1345T>C http://identifiers.org/clinvar/345423 ^@ NM_020208.3(SLC6A20):c.282C>G (p.Val94=) http://identifiers.org/clinvar/344723 ^@ NM_015141.3(GPD1L):c.-119C>T http://identifiers.org/clinvar/344773 ^@ NM_015141.3(GPD1L):c.*2525A>G http://identifiers.org/clinvar/345623 ^@ NM_015175.2(NBEAL2):c.1212G>A (p.Glu404=) http://identifiers.org/clinvar/345023 ^@ NM_001106.3(ACVR2B):c.*7620G>A http://identifiers.org/clinvar/345973 ^@ NM_002292.3(LAMB2):c.5039C>T (p.Ala1680Val) http://identifiers.org/clinvar/345123 ^@ NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) http://identifiers.org/clinvar/345173 ^@ NM_018075.4(ANO10):c.*82G>A http://identifiers.org/clinvar/346223 ^@ NM_003392.4(WNT5A):c.*3118C>G http://identifiers.org/clinvar/345223 ^@ NM_016006.4(ABHD5):c.885C>T (p.Gly295=) http://identifiers.org/clinvar/346323 ^@ NM_001457.3(FLNB):c.2523T>G (p.Pro841=) http://identifiers.org/clinvar/346373 ^@ NM_001457.3(FLNB):c.*479G>T http://identifiers.org/clinvar/346473 ^@ NM_198859.3(PRICKLE2):c.1590A>G (p.Thr530=) http://identifiers.org/clinvar/345523 ^@ NM_024513.3(FYCO1):c.1474C>T (p.Arg492Trp) http://identifiers.org/clinvar/345773 ^@ NM_033629.4(TREX1):c.183G>A (p.Pro61=) http://identifiers.org/clinvar/345923 ^@ NM_002222.5(ITPR1):c.*1266G>A http://identifiers.org/clinvar/342584 ^@ NM_198196.2(CD96):c.*2093delA http://identifiers.org/clinvar/342634 ^@ NM_020754.3(ARHGAP31):c.662C>T (p.Pro221Leu) http://identifiers.org/clinvar/346023 ^@ NM_000481.3(AMT):c.*545C>T http://identifiers.org/clinvar/342734 ^@ NM_000187.3(HGD):c.*210G>A http://identifiers.org/clinvar/342784 ^@ NM_001023570.3(IQCB1):c.-147_-142delTGGGAG http://identifiers.org/clinvar/342884 ^@ NM_053025.3(MYLK):c.2936C>T (p.Pro979Leu) http://identifiers.org/clinvar/347512 ^@ NM_152618.2(BBS12):c.*804A>G http://identifiers.org/clinvar/342934 ^@ NM_000373.3(UMPS):c.1273+14C>T http://identifiers.org/clinvar/343034 ^@ NM_000373.3(UMPS):c.*4511G>A http://identifiers.org/clinvar/343234 ^@ NM_052985.3(IFT122):c.628C>T (p.Arg210Trp) http://identifiers.org/clinvar/343084 ^@ NM_025265.3(TSEN2):c.*78G>A http://identifiers.org/clinvar/346423 ^@ NM_198859.3(PRICKLE2):c.*4109C>G http://identifiers.org/clinvar/343534 ^@ NM_024334.2(TMEM43):c.*1352_*1357delATAAAG http://identifiers.org/clinvar/343284 ^@ NM_000539.3(RHO):c.*40C>T http://identifiers.org/clinvar/348112 ^@ NM_012224.2(NEK1):c.1581T>C (p.Ala527=) http://identifiers.org/clinvar/348212 ^@ NM_000860.5(HPGD):c.-353C>T http://identifiers.org/clinvar/343684 ^@ NM_031850.3(AGTR1):c.*461C>A http://identifiers.org/clinvar/348162 ^@ NM_000320.2(QDPR):c.-24G>T http://identifiers.org/clinvar/348312 ^@ NM_207352.3(CYP4V2):c.1338C>G (p.Pro446=) http://identifiers.org/clinvar/348362 ^@ NM_207352.3(CYP4V2):c.*2176T>C http://identifiers.org/clinvar/348412 ^@ NM_133330.2(NSD2):c.-119G>A http://identifiers.org/clinvar/354050 ^@ NM_017755.5(NSUN2):c.2059C>T (p.Arg687Ter) http://identifiers.org/clinvar/353700 ^@ NM_000163.4(GHR):c.*781T>A http://identifiers.org/clinvar/353750 ^@ NM_002203.3(ITGA2):c.1189G>A (p.Gly397Ser) http://identifiers.org/clinvar/353850 ^@ NM_002203.3(ITGA2):c.*3358G>C http://identifiers.org/clinvar/353900 ^@ NM_006308.2(HSPB3):c.321C>T (p.His107=) http://identifiers.org/clinvar/354100 ^@ NM_022132.4(MCCC2):c.-38G>A http://identifiers.org/clinvar/362638 ^@ NM_006158.4(NEFL):c.*407_*408delTA http://identifiers.org/clinvar/363277 ^@ NM_006269.1(RP1):c.74G>A (p.Arg25His) http://identifiers.org/clinvar/354889 ^@ NM_007214.4(SEC63):c.2205G>C (p.Gly735=) http://identifiers.org/clinvar/363677 ^@ NM_000503.5(EYA1):c.-429G>A http://identifiers.org/clinvar/363777 ^@ NM_000318.2(PEX2):c.*2377A>G http://identifiers.org/clinvar/355490 ^@ NM_017651.4(AHI1):c.*387T>G http://identifiers.org/clinvar/363927 ^@ NM_153704.5(TMEM67):c.2924G>A (p.Arg975His) http://identifiers.org/clinvar/355340 ^@ NM_006208.2(ENPP1):c.1317A>G (p.Lys439=) http://identifiers.org/clinvar/355690 ^@ NM_203395.2(IYD):c.*369C>T http://identifiers.org/clinvar/364277 ^@ NM_001701.3(BAAT):c.797T>C (p.Ile266Thr) http://identifiers.org/clinvar/355540 ^@ NM_000288.3(PEX7):c.*272A>G http://identifiers.org/clinvar/355790 ^@ NM_203395.2(IYD):c.*6291A>G http://identifiers.org/clinvar/355590 ^@ NM_003630.2(PEX3):c.*958T>C http://identifiers.org/clinvar/355840 ^@ NM_033071.3(SYNE1):c.19480-15G>A http://identifiers.org/clinvar/355640 ^@ NM_003764.3(STX11):c.*2816C>T http://identifiers.org/clinvar/364527 ^@ NM_001079802.1(FKTN):c.*5260G>T http://identifiers.org/clinvar/355940 ^@ NM_033071.3(SYNE1):c.1326C>T (p.His442=) http://identifiers.org/clinvar/355740 ^@ NM_203395.2(IYD):c.*2509C>T http://identifiers.org/clinvar/356040 ^@ NM_003730.4(RNASET2):c.-3_6delACCATGCGC http://identifiers.org/clinvar/356140 ^@ NM_001080.3(ALDH5A1):c.1344-6T>C http://identifiers.org/clinvar/356290 ^@ NM_001710.5(CFB):c.1524C>T (p.His508=) http://identifiers.org/clinvar/356640 ^@ NM_005943.5(MOCS1):c.*657C>T http://identifiers.org/clinvar/356440 ^@ NM_021922.2(FANCE):c.-19G>C http://identifiers.org/clinvar/356690 ^@ NM_000409.4(GUCA1A):c.-83G>A http://identifiers.org/clinvar/366067 ^@ NM_144966.5(FREM1):c.*1823_*1824delAT http://identifiers.org/clinvar/366167 ^@ NM_144966.5(FREM1):c.605A>G (p.Gln202Arg) http://identifiers.org/clinvar/367117 ^@ NM_004972.3(JAK2):c.-135G>C http://identifiers.org/clinvar/303169 ^@ NM_018400.3(SCN3B):c.*1508A>G http://identifiers.org/clinvar/311157 ^@ NM_001846.3(COL4A2):c.3286A>G (p.Thr1096Ala) http://identifiers.org/clinvar/311257 ^@ NM_000131.4(F7):c.*1057C>T http://identifiers.org/clinvar/311307 ^@ NM_021954.3(GJA3):c.*1351C>T http://identifiers.org/clinvar/366817 ^@ NM_005476.5(GNE):c.*1054C>A http://identifiers.org/clinvar/366867 ^@ NM_016042.3(EXOSC3):c.*954G>A http://identifiers.org/clinvar/367217 ^@ NM_004817.3(TJP2):c.887G>A (p.Ser296Asn) http://identifiers.org/clinvar/364127 ^@ NM_004612.3(TGFBR1):c.*1804A>G http://identifiers.org/clinvar/364177 ^@ NM_004612.3(TGFBR1):c.*3881G>T http://identifiers.org/clinvar/298770 ^@ NM_005445.3(SMC3):c.1671-4T>C http://identifiers.org/clinvar/298820 ^@ NM_001134363.2(RBM20):c.*834G>T http://identifiers.org/clinvar/304558 ^@ NM_000536.3(RAG2):c.140A>T (p.His47Leu) http://identifiers.org/clinvar/304708 ^@ NM_021926.3(ALX4):c.569C>T (p.Pro190Leu) http://identifiers.org/clinvar/298870 ^@ NM_007373.3(SHOC2):c.*625delA http://identifiers.org/clinvar/299020 ^@ NM_000141.4(FGFR2):c.-298_-297dupCC http://identifiers.org/clinvar/299270 ^@ NM_001033855.2(DCLRE1C):c.*1390T>C http://identifiers.org/clinvar/299420 ^@ NM_001081.3(CUBN):c.7662A>G (p.Pro2554=) http://identifiers.org/clinvar/314656 ^@ NM_004863.3(SPTLC2):c.*523C>T http://identifiers.org/clinvar/314706 ^@ NM_000369.2(TSHR):c.*319G>A http://identifiers.org/clinvar/305710 ^@ NM_145200.3(CABP4):c.*2327delG http://identifiers.org/clinvar/305760 ^@ NM_007103.3(NDUFV1):c.*79C>T http://identifiers.org/clinvar/305810 ^@ NM_006019.3(TCIRG1):c.1709C>T (p.Thr570Met) http://identifiers.org/clinvar/314906 ^@ NM_004239.4(TRIP11):c.*840A>G http://identifiers.org/clinvar/314956 ^@ NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) http://identifiers.org/clinvar/305860 ^@ NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His) http://identifiers.org/clinvar/315106 ^@ NM_177438.2(DICER1):c.3616A>G (p.Lys1206Glu) http://identifiers.org/clinvar/329218 ^@ NM_017827.3(SARS2):c.654-11C>G http://identifiers.org/clinvar/311057 ^@ NM_001845.5(COL4A1):c.2124G>A (p.Gly708=) http://identifiers.org/clinvar/311207 ^@ NM_001846.3(COL4A2):c.*493C>G http://identifiers.org/clinvar/311407 ^@ NM_002010.2(FGF9):c.-585dupT http://identifiers.org/clinvar/329668 ^@ NM_025136.3(OPA3):c.*713C>G http://identifiers.org/clinvar/318087 ^@ NM_002474.2(MYH11):c.5886C>T (p.Asp1962=) http://identifiers.org/clinvar/329768 ^@ NM_000554.5(CRX):c.*2704C>T http://identifiers.org/clinvar/310052 ^@ NM_000552.4(VWF):c.6572T>C (p.Val2191Ala) http://identifiers.org/clinvar/329918 ^@ NM_024729.3(MYH14):c.2110-13C>A http://identifiers.org/clinvar/318587 ^@ NM_001089.2(ABCA3):c.-236C>G http://identifiers.org/clinvar/318687 ^@ NM_020705.2(TBC1D24):c.*3569T>C http://identifiers.org/clinvar/310452 ^@ NM_001131025.1(PEX5):c.*755C>G http://identifiers.org/clinvar/318737 ^@ NM_003321.4(TUFM):c.*349G>A http://identifiers.org/clinvar/318887 ^@ NM_006662.2(SRCAP):c.5403C>T (p.Ala1801=) http://identifiers.org/clinvar/319137 ^@ NM_032444.2(SLX4):c.*311G>A http://identifiers.org/clinvar/337904 ^@ NM_198994.2(TGM6):c.303C>T (p.Leu101=) http://identifiers.org/clinvar/319187 ^@ NM_032444.2(SLX4):c.360T>C (p.Thr120=) http://identifiers.org/clinvar/310807 ^@ NM_005888.3(SLC25A3):c.*221T>G http://identifiers.org/clinvar/337954 ^@ NM_014588.5(VSX1):c.*89T>C http://identifiers.org/clinvar/319287 ^@ NM_018206.5(VPS35):c.*259_*260dupTA http://identifiers.org/clinvar/338104 ^@ NM_015338.5(ASXL1):c.2985C>T (p.His995=) http://identifiers.org/clinvar/338304 ^@ NM_000178.3(GSS):c.-18A>G http://identifiers.org/clinvar/338354 ^@ NM_015474.3(SAMHD1):c.-39C>A http://identifiers.org/clinvar/338404 ^@ NM_005461.4(MAFB):c.*152G>C http://identifiers.org/clinvar/338454 ^@ NM_000457.4(HNF4A):c.*1089delG http://identifiers.org/clinvar/338504 ^@ NM_000022.3(ADA):c.927G>A (p.Gln309=) http://identifiers.org/clinvar/338604 ^@ NM_030777.3(SLC2A10):c.*180A>G http://identifiers.org/clinvar/338905 ^@ NM_002591.3(PCK1):c.*390_*393dupTGTG http://identifiers.org/clinvar/338955 ^@ NM_004738.4(VAPB):c.*1773G>A http://identifiers.org/clinvar/339055 ^@ NM_001001433.2(STX16):c.716A>G (p.Glu239Gly) http://identifiers.org/clinvar/339105 ^@ NM_001001433.2(STX16):c.*2543G>C http://identifiers.org/clinvar/320727 ^@ NM_012213.2(MLYCD):c.613C>T (p.Pro205Ser) http://identifiers.org/clinvar/321177 ^@ NM_000512.4(GALNS):c.*296A>G http://identifiers.org/clinvar/339794 ^@ NM_001754.4(RUNX1):c.*4188G>C http://identifiers.org/clinvar/339944 ^@ NM_000411.6(HLCS):c.*1206C>A http://identifiers.org/clinvar/340094 ^@ NM_000071.2(CBS):c.-136C>T http://identifiers.org/clinvar/321631 ^@ NM_002472.2(MYH8):c.4433G>A (p.Arg1478His) http://identifiers.org/clinvar/314156 ^@ NM_031427.3(DNAL1):c.*7710_*7711dupCC http://identifiers.org/clinvar/340244 ^@ NM_130445.3(COL18A1):c.2380-15C>T http://identifiers.org/clinvar/314206 ^@ NM_182894.2(VSX2):c.*39C>T http://identifiers.org/clinvar/340294 ^@ NM_130445.3(COL18A1):c.*849A>T http://identifiers.org/clinvar/321831 ^@ NM_001303.3(COX10):c.*646C>A http://identifiers.org/clinvar/340394 ^@ NM_001849.3(COL6A2):c.*66C>G http://identifiers.org/clinvar/326829 ^@ NM_144612.6(LOXHD1):c.6066C>T (p.His2022=) http://identifiers.org/clinvar/326979 ^@ NM_001080467.2(MYO5B):c.*958T>C http://identifiers.org/clinvar/327079 ^@ NM_001080467.2(MYO5B):c.807C>T (p.Ala269=) http://identifiers.org/clinvar/327179 ^@ NM_005359.5(SMAD4):c.*5419T>C http://identifiers.org/clinvar/327379 ^@ NM_000140.3(FECH):c.*2451T>G http://identifiers.org/clinvar/327579 ^@ NM_005570.3(LMAN1):c.41G>A (p.Arg14Gln) http://identifiers.org/clinvar/327629 ^@ NM_133459.3(CCBE1):c.*2810A>G http://identifiers.org/clinvar/368685 ^@ NM_153252.4(BRWD3):c.*6157C>T http://identifiers.org/clinvar/329968 ^@ NM_024729.3(MYH14):c.*531C>T http://identifiers.org/clinvar/328079 ^@ NM_000527.4(LDLR):c.*979C>T http://identifiers.org/clinvar/330168 ^@ NM_206828.3(NLRP7):c.1488C>T (p.Asp496=) http://identifiers.org/clinvar/338004 ^@ NM_001042472.2(ABHD12):c.-220G>A http://identifiers.org/clinvar/338254 ^@ NM_032034.3(SLC4A11):c.679C>T (p.Arg227Trp) http://identifiers.org/clinvar/329268 ^@ NM_181882.2(PRX):c.2215G>A (p.Asp739Asn) http://identifiers.org/clinvar/338204 ^@ NM_006892.3(DNMT3B):c.*1350G>C http://identifiers.org/clinvar/329368 ^@ NM_000709.3(BCKDHA):c.1192G>A (p.Glu398Lys) http://identifiers.org/clinvar/329418 ^@ NM_152296.4(ATP1A3):c.1303-15C>A http://identifiers.org/clinvar/329468 ^@ NM_212550.4(BLOC1S3):c.-42C>T http://identifiers.org/clinvar/329518 ^@ NM_000400.3(ERCC2):c.950-13C>A http://identifiers.org/clinvar/329568 ^@ NM_025136.3(OPA3):c.*6278G>A http://identifiers.org/clinvar/338704 ^@ NM_006420.2(ARFGEF2):c.4924+13A>G http://identifiers.org/clinvar/329718 ^@ NM_000554.5(CRX):c.*683G>A http://identifiers.org/clinvar/338855 ^@ NM_144773.3(PROKR2):c.955G>A (p.Glu319Lys) http://identifiers.org/clinvar/338805 ^@ NM_000782.4(CYP24A1):c.*244C>T http://identifiers.org/clinvar/329818 ^@ NM_002103.4(GYS1):c.1026C>T (p.Phe342=) http://identifiers.org/clinvar/329868 ^@ NM_017636.3(TRPM4):c.2790G>A (p.Val930=) http://identifiers.org/clinvar/339005 ^@ NM_004738.4(VAPB):c.*5250T>C http://identifiers.org/clinvar/339155 ^@ NM_207034.2(EDN3):c.*962C>T http://identifiers.org/clinvar/330018 ^@ NM_144687.3(NLRP12):c.2499C>A (p.Asp833Glu) http://identifiers.org/clinvar/339205 ^@ NM_017671.4(FERMT1):c.1944C>T (p.Gly648=) http://identifiers.org/clinvar/330068 ^@ NM_002739.4(PRKCG):c.1836C>T (p.Gly612=) http://identifiers.org/clinvar/337804 ^@ NM_006363.4(SEC23B):c.*494T>C http://identifiers.org/clinvar/339994 ^@ NM_020639.2(RIPK4):c.*741G>A http://identifiers.org/clinvar/337854 ^@ NM_000361.2(THBD):c.*1770T>C http://identifiers.org/clinvar/340044 ^@ NM_024022.2(TMPRSS3):c.*540G>A http://identifiers.org/clinvar/340144 ^@ NM_000211.4(ITGB2):c.1849G>T (p.Gly617Cys) http://identifiers.org/clinvar/340344 ^@ NM_001848.2(COL6A1):c.*526C>T http://identifiers.org/clinvar/340545 ^@ NM_006031.5(PCNT):c.9532G>C (p.Gly3178Arg) http://identifiers.org/clinvar/338554 ^@ NM_004994.2(MMP9):c.1174+7G>A http://identifiers.org/clinvar/338654 ^@ NM_000311.4(PRNP):c.*70G>A http://identifiers.org/clinvar/340795 ^@ NM_017929.5(PEX26):c.*1661_*1662insACTC http://identifiers.org/clinvar/338755 ^@ NM_003859.2(DPM1):c.161+10C>T http://identifiers.org/clinvar/340895 ^@ NM_004782.3(SNAP29):c.*2912G>A http://identifiers.org/clinvar/340945 ^@ NM_016327.2(UPB1):c.*652A>T http://identifiers.org/clinvar/341245 ^@ NM_000343.3(SLC5A1):c.1012C>G (p.Leu338Val) http://identifiers.org/clinvar/339305 ^@ NM_001853.3(COL9A3):c.1756A>C (p.Thr586Pro) http://identifiers.org/clinvar/341645 ^@ NM_003560.2(PLA2G6):c.773C>T (p.Ser258Leu) http://identifiers.org/clinvar/341695 ^@ NM_022098.3(XPNPEP3):c.*1249T>C http://identifiers.org/clinvar/339844 ^@ NM_001754.4(RUNX1):c.*1466G>A http://identifiers.org/clinvar/339894 ^@ NM_144492.2(CLDN14):c.-54G>A http://identifiers.org/clinvar/387536 ^@ NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) http://identifiers.org/clinvar/381302 ^@ NM_014000.2(VCL):c.1177-14G>A http://identifiers.org/clinvar/377799 ^@ NM_203447.3(DOCK8):c.3988C>G (p.Leu1330Val) http://identifiers.org/clinvar/387286 ^@ NM_001003800.1(BICD2):c.1236C>T (p.Asn412=) http://identifiers.org/clinvar/388825 ^@ NM_001003800.1(BICD2):c.531G>C (p.Leu177=) http://identifiers.org/clinvar/381352 ^@ NM_005097.3(LGI1):c.1482T>C (p.Ser494=) http://identifiers.org/clinvar/386486 ^@ NM_000136.2(FANCC):c.-82C>G http://identifiers.org/clinvar/383896 ^@ NM_000051.3(ATM):c.2346A>C (p.Leu782=) http://identifiers.org/clinvar/389025 ^@ NM_000264.3(PTCH1):c.945+9C>T http://identifiers.org/clinvar/385886 ^@ NM_000136.2(FANCC):c.-79+14C>G http://identifiers.org/clinvar/383144 ^@ NM_000256.3(MYBPC3):c.821+13C>G http://identifiers.org/clinvar/380851 ^@ NM_012229.4(NT5C2):c.7A>G (p.Thr3Ala) http://identifiers.org/clinvar/378759 ^@ NM_000391.3(TPP1):c.1086G>A (p.Gly362=) http://identifiers.org/clinvar/382544 ^@ NM_000051.3(ATM):c.1802+7T>G http://identifiers.org/clinvar/377699 ^@ NM_018941.3(CLN8):c.318C>T (p.His106=) http://identifiers.org/clinvar/387686 ^@ NM_001613.2(ACTA2):c.611C>T (p.Thr204Ile) http://identifiers.org/clinvar/388925 ^@ NM_000051.3(ATM):c.7629+12T>C http://identifiers.org/clinvar/388725 ^@ NM_024740.2(ALG9):c.-26C>T http://identifiers.org/clinvar/380700 ^@ NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val) http://identifiers.org/clinvar/388675 ^@ NM_020822.2(KCNT1):c.3502+18G>A http://identifiers.org/clinvar/388625 ^@ NM_006231.3(POLE):c.6162T>C (p.Tyr2054=) http://identifiers.org/clinvar/380902 ^@ NM_014844.4(TECPR2):c.2760C>T (p.Ser920=) http://identifiers.org/clinvar/380650 ^@ NM_000257.3(MYH7):c.11C>T (p.Ser4Leu) http://identifiers.org/clinvar/381502 ^@ NM_014191.3(SCN8A):c.3957C>T (p.Ala1319=) http://identifiers.org/clinvar/392574 ^@ NM_005050.3(ABCD4):c.1327+8C>T http://identifiers.org/clinvar/377849 ^@ NM_000136.2(FANCC):c.*7C>T http://identifiers.org/clinvar/380349 ^@ NM_004863.3(SPTLC2):c.612C>T (p.Cys204=) http://identifiers.org/clinvar/377549 ^@ NM_004281.3(BAG3):c.909+17G>A http://identifiers.org/clinvar/378959 ^@ NM_000059.3(BRCA2):c.9990A>C (p.Glu3330Asp) http://identifiers.org/clinvar/381102 ^@ NM_000138.4(FBN1):c.2678-3C>G http://identifiers.org/clinvar/381002 ^@ NM_000138.4(FBN1):c.863-7A>G http://identifiers.org/clinvar/386236 ^@ NM_000942.4(PPIB):c.-25G>C http://identifiers.org/clinvar/384096 ^@ NM_000059.3(BRCA2):c.7282T>C (p.Leu2428=) http://identifiers.org/clinvar/381452 ^@ NM_001160147.1(DDHD1):c.448G>T (p.Gly150Cys) http://identifiers.org/clinvar/384046 ^@ NM_002474.2(MYH11):c.5586C>G (p.Arg1862=) http://identifiers.org/clinvar/386386 ^@ NM_000814.5(GABRB3):c.1293G>A (p.Arg431=) http://identifiers.org/clinvar/381702 ^@ NM_005055.4(RAPSN):c.439G>A (p.Glu147Lys) http://identifiers.org/clinvar/386636 ^@ NM_005477.2(HCN4):c.2694C>T (p.Gly898=) http://identifiers.org/clinvar/382343 ^@ NM_001199107.1(TBC1D24):c.965+8G>A http://identifiers.org/clinvar/380500 ^@ NM_005050.3(ABCD4):c.668+7C>T http://identifiers.org/clinvar/377949 ^@ NM_005477.2(HCN4):c.-34C>T http://identifiers.org/clinvar/383495 ^@ NM_005050.3(ABCD4):c.195T>C (p.Ser65=) http://identifiers.org/clinvar/393074 ^@ NM_003239.4(TGFB3):c.1079C>T (p.Thr360Met) http://identifiers.org/clinvar/388775 ^@ NM_004239.4(TRIP11):c.2305C>G (p.Gln769Glu) http://identifiers.org/clinvar/386586 ^@ NM_030962.3(SBF2):c.5055G>A (p.Ser1685=) http://identifiers.org/clinvar/381402 ^@ NM_030962.3(SBF2):c.4444-18T>G http://identifiers.org/clinvar/380199 ^@ NM_004360.4(CDH1):c.2440-16G>T http://identifiers.org/clinvar/391774 ^@ NM_021625.4(TRPV4):c.1116G>A (p.Ser372=) http://identifiers.org/clinvar/384747 ^@ NM_021625.4(TRPV4):c.1062C>T (p.Ala354=) http://identifiers.org/clinvar/383996 ^@ NM_000833.4(GRIN2A):c.165G>A (p.Trp55Ter) http://identifiers.org/clinvar/378101 ^@ NM_002755.3(MAP2K1):c.569-19T>A http://identifiers.org/clinvar/381552 ^@ NM_002474.2(MYH11):c.1185C>G (p.Ser395=) http://identifiers.org/clinvar/392224 ^@ NM_001127464.2(ZNF469):c.8610C>T (p.Gly2870=) http://identifiers.org/clinvar/47651 ^@ NM_001256850.1(TTN):c.9487C>T (p.Arg3163Cys) http://identifiers.org/clinvar/47701 ^@ NM_133378.4(TTN):c.98083G>T (p.Ala32695Ser) http://identifiers.org/clinvar/47751 ^@ NM_133379.4(TTN):c.13295A>G (p.Asn4432Ser) http://identifiers.org/clinvar/47801 ^@ NM_133379.4(TTN):c.16387_16390delATCT (p.Ile5463Valfs) http://identifiers.org/clinvar/47851 ^@ NM_001267550.2(TTN):c.11140A>G (p.Ile3714Val) http://identifiers.org/clinvar/47901 ^@ NM_144573.3(NEXN):c.249G>C (p.Glu83Asp) http://identifiers.org/clinvar/47951 ^@ NM_144612.6(LOXHD1):c.6398G>A (p.Arg2133His) http://identifiers.org/clinvar/48003 ^@ NM_153676.3(USH1C):c.2457G>C (p.Glu819Asp) http://identifiers.org/clinvar/48053 ^@ NM_170707.3(LMNA):c.1825G>A (p.Gly609Arg) http://identifiers.org/clinvar/48103 ^@ NM_000503.5(EYA1):c.1579T>A (p.Tyr527Asn) http://identifiers.org/clinvar/48153 ^@ NM_178335.2(CCDC50):c.228C>T (p.Arg76=) http://identifiers.org/clinvar/48203 ^@ NM_194248.2(OTOF):c.2613C>T (p.Leu871=) http://identifiers.org/clinvar/48253 ^@ NM_194248.2(OTOF):c.5098G>C (p.Glu1700Gln) http://identifiers.org/clinvar/48303 ^@ NM_198056.2(SCN5A):c.4212C>T (p.Asn1404=) http://identifiers.org/clinvar/48354 ^@ NM_206933.2(USH2A):c.10667G>A (p.Gly3556Glu) http://identifiers.org/clinvar/48404 ^@ NM_206933.2(USH2A):c.12667T>C (p.Phe4223Leu) http://identifiers.org/clinvar/48454 ^@ NM_206933.2(USH2A):c.15090G>A (p.Ser5030=) http://identifiers.org/clinvar/48505 ^@ NM_007123.5(USH2A):c.3621C>T (p.Ile1207=) http://identifiers.org/clinvar/33 ^@ NM_138413.3(HOGA1):c.209G>C (p.Arg70Pro) http://identifiers.org/clinvar/85 ^@ HPSE2, 2-BP DEL, 241CT http://identifiers.org/clinvar/119 ^@ NM_000071.2(CBS):c.341C>T (p.Ala114Val) http://identifiers.org/clinvar/133 ^@ CBS, 68-BP INS http://identifiers.org/clinvar/283 ^@ NM_001159772.1(CANT1):c.896C>T (p.Pro299Leu) http://identifiers.org/clinvar/316 ^@ NM_000552.4(VWF):c.1071C>A (p.Tyr357Ter) http://identifiers.org/clinvar/353 ^@ NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro) http://identifiers.org/clinvar/367 ^@ NF1, 1-BP DEL, 3775T http://identifiers.org/clinvar/395 ^@ NM_144612.6(LOXHD1):c.2008C>T (p.Arg670Ter) http://identifiers.org/clinvar/614 ^@ NM_000277.1(PAH):c.842+2T>A http://identifiers.org/clinvar/678 ^@ PROC, -14T-C http://identifiers.org/clinvar/1144 ^@ NM_014362.3(HIBCH):c.220-9T>G http://identifiers.org/clinvar/1234 ^@ NM_152419.2(HGSNAT):c.1445T>A (p.Met482Lys) http://identifiers.org/clinvar/1285 ^@ NM_017837.3(PIGV):c.1154A>C (p.His385Pro) http://identifiers.org/clinvar/1375 ^@ NM_153704.5(TMEM67):c.1961-2A>C http://identifiers.org/clinvar/1420 ^@ NC_000014.9:g.92307319G>T http://identifiers.org/clinvar/1466 ^@ NM_000190.3(HMBS):c.530T>G (p.Leu177Arg) http://identifiers.org/clinvar/1511 ^@ NM_000298.5(PKLR):c.1529G>A (p.Arg510Gln) http://identifiers.org/clinvar/1557 ^@ NM_000237.2(LPL):c.798C>G (p.Cys266Trp) http://identifiers.org/clinvar/1601 ^@ NM_030916.2(NECTIN4):c.554C>T (p.Thr185Met) http://identifiers.org/clinvar/1651 ^@ NM_018105.2(THAP1):c.25G>T (p.Gly9Cys) http://identifiers.org/clinvar/1697 ^@ NM_182548.3(LHFPL5):c.494C>T (p.Thr165Met) http://identifiers.org/clinvar/1743 ^@ GIF, 4-BP DEL, 183GAAT http://identifiers.org/clinvar/2462 ^@ NM_000026.3(ADSL):c.1277G>A (p.Arg426His) http://identifiers.org/clinvar/2508 ^@ SOX9, 4-BP INS http://identifiers.org/clinvar/2556 ^@ NM_000243.2(MEFV):c.2081_2083delTGA (p.Met694del) http://identifiers.org/clinvar/2601 ^@ NM_058172.5(ANTXR2):c.986T>G (p.Leu329Arg) http://identifiers.org/clinvar/2648 ^@ NM_000391.3(TPP1):c.857A>G (p.Asn286Ser) http://identifiers.org/clinvar/2785 ^@ NM_000158.3(GBE1):c.1634A>G (p.His545Arg) http://identifiers.org/clinvar/2875 ^@ NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) http://identifiers.org/clinvar/2920 ^@ NM_024077.4(SECISBP2):c.1312A>T (p.Lys438Ter) http://identifiers.org/clinvar/2966 ^@ NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) http://identifiers.org/clinvar/3010 ^@ NM_133497.3(KCNV2):c.427G>T (p.Glu143Ter) http://identifiers.org/clinvar/3060 ^@ NM_000487.5(ARSA):c.931G>A (p.Gly311Ser) http://identifiers.org/clinvar/3108 ^@ NM_144701.2(IL23R):c.1142G>A (p.Arg381Gln) http://identifiers.org/clinvar/3205 ^@ NM_006731.2(FKTN):c.454dupT (p.Ser152Phefs) http://identifiers.org/clinvar/3254 ^@ NM_007171.3(POMT1):c.418_420delATG (p.Met140del) http://identifiers.org/clinvar/3344 ^@ NM_000348.3(SRD5A2):c.682G>A (p.Ala228Thr) http://identifiers.org/clinvar/10866 ^@ FANCB, 1-BP INS, 1838T http://identifiers.org/clinvar/10911 ^@ NM_017745.5(BCOR):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/10957 ^@ NM_000475.4(NR0B1):c.1319A>T (p.Asn440Ile) http://identifiers.org/clinvar/11001 ^@ NM_000531.5(OTC):c.259G>A (p.Glu87Lys) http://identifiers.org/clinvar/11047 ^@ EDA, 2-BP INS, 913TA http://identifiers.org/clinvar/11092 ^@ NM_001128834.2(PLP1):c.509C>T (p.Ser170Phe) http://identifiers.org/clinvar/11137 ^@ NM_182680.1(AMELX):c.155delC (p.Pro52Leufs) http://identifiers.org/clinvar/11183 ^@ NM_002621.2(CFP):c.893G>T (p.Gly298Val) http://identifiers.org/clinvar/11228 ^@ NM_004006.2(DMD):c.161T>G (p.Leu54Arg) http://identifiers.org/clinvar/11273 ^@ NM_004006.2(DMD):c.10141C>T (p.Arg3381Ter) http://identifiers.org/clinvar/11318 ^@ NM_004085.3(TIMM8A):c.116delT (p.Met39Argfs) http://identifiers.org/clinvar/11364 ^@ BTK, IVS9DS, G-A, +1 http://identifiers.org/clinvar/11421 ^@ NM_022567.2(NYX):c.1049G>A (p.Trp350Ter) http://identifiers.org/clinvar/11471 ^@ NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) http://identifiers.org/clinvar/11523 ^@ NM_000047.2(ARSE):c.349G>A (p.Gly117Arg) http://identifiers.org/clinvar/11573 ^@ IGBP1, -57delT and -55T-A, 5-PRIME UTR http://identifiers.org/clinvar/11876 ^@ NM_002769.4(PRSS1):c.365G>A (p.Arg122His) http://identifiers.org/clinvar/11926 ^@ IDUA, IVS2AS, C-G, -3 http://identifiers.org/clinvar/11976 ^@ NM_000481.3(AMT):c.125A>G (p.His42Arg) http://identifiers.org/clinvar/12028 ^@ NM_004453.3(ETFDH):c.250G>A (p.Ala84Thr) http://identifiers.org/clinvar/12078 ^@ F7, 1-BP DEL, 11128C http://identifiers.org/clinvar/12128 ^@ C2, SER189PHE http://identifiers.org/clinvar/12181 ^@ CYP21A2, GLY375SER http://identifiers.org/clinvar/12233 ^@ NM_004360.4(CDH1):c.2512A>G (p.Ser838Gly) http://identifiers.org/clinvar/12284 ^@ UGT1A1, 1-BP DEL, 1223A http://identifiers.org/clinvar/12336 ^@ NM_001065.3(TNFRSF1A):c.236C>T (p.Thr79Met) http://identifiers.org/clinvar/12387 ^@ TNF, -376G-A http://identifiers.org/clinvar/12439 ^@ NM_003282.3(TNNI2):c.499_501delGAG (p.Glu167del) http://identifiers.org/clinvar/12489 ^@ NM_000359.2(TGM1):c.1166G>A (p.Arg389His) http://identifiers.org/clinvar/12539 ^@ NM_001128177.1(THRB):c.1010_1012delCAC (p.Thr337del) http://identifiers.org/clinvar/12589 ^@ NM_004985.4(KRAS):c.40G>A (p.Val14Ile) http://identifiers.org/clinvar/12640 ^@ NM_000458.3(HNF1B):c.826C>T (p.Arg276Ter) http://identifiers.org/clinvar/12691 ^@ NM_003235.4(TG):c.4588C>T (p.Arg1530Ter) http://identifiers.org/clinvar/12742 ^@ NM_001768.6(CD8A):c.331G>A (p.Gly111Ser) http://identifiers.org/clinvar/12792 ^@ NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) http://identifiers.org/clinvar/12842 ^@ NM_001024858.2(SPTB):c.1912delC (p.Arg638Aspfs) http://identifiers.org/clinvar/12943 ^@ NM_003124.4(SPR):c.488C>T (p.Pro163Leu) http://identifiers.org/clinvar/12994 ^@ NM_000540.2(RYR1):c.1739_1742dupATCA (p.His581Glnfs) http://identifiers.org/clinvar/13045 ^@ NM_000539.3(RHO):c.269G>A (p.Gly90Asp) http://identifiers.org/clinvar/13096 ^@ NM_000321.2(RB1):c.2490-1398A>G http://identifiers.org/clinvar/13146 ^@ NM_000448.2(RAG1):c.1187G>A (p.Arg396His) http://identifiers.org/clinvar/13198 ^@ NM_006907.3(PYCR1):c.752G>A (p.Arg251His) http://identifiers.org/clinvar/13248 ^@ NM_002739.4(PRKCG):c.380A>G (p.Gln127Arg) http://identifiers.org/clinvar/13299 ^@ NM_000141.4(FGFR2):c.1084+3A>G http://identifiers.org/clinvar/36680 ^@ NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) http://identifiers.org/clinvar/36734 ^@ NM_001035.2(RYR2):c.14314G>A (p.Gly4772Ser) http://identifiers.org/clinvar/36785 ^@ NM_139276.2(STAT3):c.1365+146dupA http://identifiers.org/clinvar/36835 ^@ NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) http://identifiers.org/clinvar/36886 ^@ NM_001001432.2(TNNT2):c.803+5G>A http://identifiers.org/clinvar/242685 ^@ NM_000570.4(FCGR3B):c.194A>G (p.Asn65Ser) http://identifiers.org/clinvar/36954 ^@ NM_001112704.1(VAX1):c.454C>A (p.Arg152Ser) http://identifiers.org/clinvar/37054 ^@ NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu) http://identifiers.org/clinvar/37253 ^@ NM_002653.4(PITX1):c.765_799del35 (p.Ala256Argfs) http://identifiers.org/clinvar/37411 ^@ NM_007294.3(BRCA1):c.1405G>A (p.Ala469Thr) http://identifiers.org/clinvar/38141 ^@ NM_000059.3(BRCA2):c.8168A>G (p.Asp2723Gly) http://identifiers.org/clinvar/38191 ^@ NM_000059.3(BRCA2):c.887A>G (p.Tyr296Cys) http://identifiers.org/clinvar/38241 ^@ NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) http://identifiers.org/clinvar/38303 ^@ NM_000168.5(GLI3):c.2032delG (p.Asp678Thrfs) http://identifiers.org/clinvar/38358 ^@ NM_002437.4(MPV17):c.509C>T (p.Ser170Phe) http://identifiers.org/clinvar/38415 ^@ NM_024312.4(GNPTAB):c.1738_1741[3] (p.Ser581Ilefs) http://identifiers.org/clinvar/38743 ^@ NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del http://identifiers.org/clinvar/38917 ^@ NM_001099274.1(TINF2):c.838A>T (p.Lys280Ter) http://identifiers.org/clinvar/38967 ^@ NM_002473.5(MYH9):c.4876A>G (p.Ile1626Val) http://identifiers.org/clinvar/39019 ^@ NM_024312.4(GNPTAB):c.1001G>T (p.Arg334Leu) http://identifiers.org/clinvar/39069 ^@ NM_024312.4(GNPTAB):c.3310delG (p.Ala1104Hisfs) http://identifiers.org/clinvar/39126 ^@ NM_198253.2(TERT):c.915G>A (p.Ala305=) http://identifiers.org/clinvar/39176 ^@ NM_198578.3(LRRK2):c.4111A>G (p.Ile1371Val) http://identifiers.org/clinvar/39226 ^@ NM_198578.3(LRRK2):c.6422C>T (p.Thr2141Met) http://identifiers.org/clinvar/39277 ^@ NM_213599.2(ANO5):c.2311_2312delCA (p.Gln771Alafs) http://identifiers.org/clinvar/39439 ^@ NM_198506.4(LRIT3):c.1318C>T (p.Arg440Ter) http://identifiers.org/clinvar/39491 ^@ NM_004826.3(ECEL1):c.1184+3A>T http://identifiers.org/clinvar/39541 ^@ NM_001139.2(ALOX12B):c.1180G>A (p.Glu394Lys) http://identifiers.org/clinvar/39591 ^@ NM_021783.4(EDA2R):c.253delG (p.Asp85Thrfs) http://identifiers.org/clinvar/39643 ^@ NM_004670.3(PAPSS2):c.616_634del19 (p.Val206Serfs) http://identifiers.org/clinvar/39695 ^@ NM_005334.2(HCFC1):c.674G>A (p.Ser225Asn) http://identifiers.org/clinvar/39745 ^@ NM_005881.3(BCKDK):c.671G>C (p.Arg224Pro) http://identifiers.org/clinvar/39796 ^@ NM_012472.5(LRRC6):c.576dupA (p.Glu193Argfs) http://identifiers.org/clinvar/39847 ^@ NM_001410.2(MEGF8):c.1342C>T (p.Arg448Ter) http://identifiers.org/clinvar/40002 ^@ NM_001042544.1(LTBP4):c.1453C>T (p.Arg485Ter) http://identifiers.org/clinvar/40162 ^@ NM_001014431.1(AKT1):c.73C>T (p.Arg25Cys) http://identifiers.org/clinvar/40258 ^@ NM_004376.6(COX15):c.1030T>C (p.Ser344Pro) http://identifiers.org/clinvar/40388 ^@ NM_004333.4(BRAF):c.1796C>T (p.Thr599Ile) http://identifiers.org/clinvar/40453 ^@ NM_004985.4(KRAS):c.65A>T (p.Gln22Leu) http://identifiers.org/clinvar/40641 ^@ NM_005633.3(SOS1):c.109A>G (p.Thr37Ala) http://identifiers.org/clinvar/40732 ^@ NM_005633.3(SOS1):c.3524A>C (p.His1175Pro) http://identifiers.org/clinvar/40827 ^@ NM_030662.3(MAP2K2):c.846C>T (p.Pro282=) http://identifiers.org/clinvar/41003 ^@ NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) http://identifiers.org/clinvar/41062 ^@ NM_003611.2(OFD1):c.1130-22_1130-19delAATT http://identifiers.org/clinvar/51131 ^@ NM_000059.3(BRCA2):c.1483G>A (p.Ala495Thr) http://identifiers.org/clinvar/51182 ^@ NM_000059.3(BRCA2):c.1748T>A (p.Leu583Ter) http://identifiers.org/clinvar/51591 ^@ NM_000059.3(BRCA2):c.4089C>T (p.Asn1363=) http://identifiers.org/clinvar/51643 ^@ NM_000059.3(BRCA2):c.4409_4413delTAAGA (p.Ile1470Lysfs) http://identifiers.org/clinvar/53940 ^@ NM_000492.3(CFTR):c.4312C>T (p.Arg1438Trp) http://identifiers.org/clinvar/53990 ^@ NM_000492.3(CFTR):c.530T>C (p.Ile177Thr) http://identifiers.org/clinvar/54040 ^@ NM_000492.3(CFTR):c.680T>G (p.Leu227Arg) http://identifiers.org/clinvar/54092 ^@ NM_000492.3(CFTR):c.959T>A (p.Leu320Ter) http://identifiers.org/clinvar/54142 ^@ NM_007294.3(BRCA1):c.1130G>A (p.Ser377Asn) http://identifiers.org/clinvar/54192 ^@ NM_007294.3(BRCA1):c.130T>C (p.Cys44Arg) http://identifiers.org/clinvar/54242 ^@ NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly) http://identifiers.org/clinvar/54293 ^@ NM_007294.3(BRCA1):c.1564G>A (p.Asp522Asn) http://identifiers.org/clinvar/54343 ^@ NM_007294.3(BRCA1):c.1757delC (p.Pro586Leufs) http://identifiers.org/clinvar/54394 ^@ NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg) http://identifiers.org/clinvar/54444 ^@ NM_007294.3(BRCA1):c.203T>A (p.Ile68Lys) http://identifiers.org/clinvar/54494 ^@ NM_007294.3(BRCA1):c.2197G>T (p.Glu733Ter) http://identifiers.org/clinvar/54544 ^@ NM_007294.3(BRCA1):c.2351_2357delCGTTACT (p.Ser784Trpfs) http://identifiers.org/clinvar/54594 ^@ NM_007294.3(BRCA1):c.2541G>A (p.Met847Ile) http://identifiers.org/clinvar/54644 ^@ NM_007294.3(BRCA1):c.2683C>T (p.Gln895Ter) http://identifiers.org/clinvar/54694 ^@ NM_007294.3(BRCA1):c.2834_2836delGTAinsC (p.Ser945Thrfs) http://identifiers.org/clinvar/54744 ^@ NM_007294.3(BRCA1):c.2999delA (p.Glu1000Glyfs) http://identifiers.org/clinvar/54794 ^@ NM_007294.3(BRCA1):c.3188_3189delCCinsG (p.Ser1063Terfs) http://identifiers.org/clinvar/54844 ^@ NM_007294.3(BRCA1):c.332A>C (p.Glu111Ala) http://identifiers.org/clinvar/54894 ^@ NM_007294.3(BRCA1):c.3472G>T (p.Glu1158Ter) http://identifiers.org/clinvar/54944 ^@ NM_007294.3(BRCA1):c.3626dupT (p.Leu1209Phefs) http://identifiers.org/clinvar/54996 ^@ NM_007294.3(BRCA1):c.3762_3763delGA (p.Asn1255Hisfs) http://identifiers.org/clinvar/55047 ^@ NM_007294.3(BRCA1):c.3910delG (p.Glu1304Lysfs) http://identifiers.org/clinvar/55098 ^@ NM_007294.3(BRCA1):c.4075C>T (p.Gln1359Ter) http://identifiers.org/clinvar/55643 ^@ NM_007294.3(BRCA1):c.593+4A>G http://identifiers.org/clinvar/55696 ^@ NM_007294.3(BRCA1):c.773C>G (p.Pro258Arg) http://identifiers.org/clinvar/55747 ^@ NM_007294.3(BRCA1):c.900A>C (p.Glu300Asp) http://identifiers.org/clinvar/55815 ^@ NM_020812.3(DOCK6):c.4107-1G>C http://identifiers.org/clinvar/55881 ^@ NM_001258221.1(KCTD1):c.89C>A (p.Ala30Glu) http://identifiers.org/clinvar/55954 ^@ NM_000027.3(AGA):c.788delT (p.Leu263Terfs) http://identifiers.org/clinvar/56005 ^@ NM_000111.2(SLC26A3):c.571-2A>G http://identifiers.org/clinvar/56058 ^@ NM_000170.2(GLDC):c.2098C>G (p.Pro700Ala) http://identifiers.org/clinvar/56109 ^@ NM_000170.2(GLDC):c.937G>C (p.Ala313Pro) http://identifiers.org/clinvar/56164 ^@ NM_002228.3(JUN):c.658C>G (p.Pro220Ala) http://identifiers.org/clinvar/56214 ^@ NM_000310.3(PPT1):c.739T>C (p.Tyr247His) http://identifiers.org/clinvar/56265 ^@ NM_001042432.1(CLN3):c.374G>A (p.Ser125Asn) http://identifiers.org/clinvar/56317 ^@ NM_001080522.2(CC2D2A):c.834delG (p.Leu279Cysfs) http://identifiers.org/clinvar/56367 ^@ NM_001126105.2(SLC7A7):c.418G>C (p.Ala140Pro) http://identifiers.org/clinvar/56419 ^@ NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) http://identifiers.org/clinvar/56469 ^@ NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) http://identifiers.org/clinvar/56519 ^@ NM_004646.3(NPHS1):c.661_662delAG (p.Ser221Profs) http://identifiers.org/clinvar/56570 ^@ NM_015294.4(TRIM37):c.745C>T (p.Gln249Ter) http://identifiers.org/clinvar/56628 ^@ NM_017890.4(VPS13B):c.10076_10077delCA (p.Thr3359Serfs) http://identifiers.org/clinvar/56678 ^@ NM_017890.4(VPS13B):c.5809_5810delAT (p.Ile1937Cysfs) http://identifiers.org/clinvar/56728 ^@ NM_021830.4(TWNK):c.247C>T (p.Pro83Ser) http://identifiers.org/clinvar/56778 ^@ NM_153704.5(TMEM67):c.2561dupA (p.Asn854Lysfs) http://identifiers.org/clinvar/56968 ^@ NM_001753.4(CAV1):c.473delC (p.Pro158Hisfs) http://identifiers.org/clinvar/57040 ^@ GRCh38/hg38 13q31.3(chr13:91615056-91879009)x1 http://identifiers.org/clinvar/57093 ^@ GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 http://identifiers.org/clinvar/57148 ^@ GRCh38/hg38 2p16.1-15(chr2:59658846-62336083)x1 http://identifiers.org/clinvar/57198 ^@ GRCh38/hg38 1q41(chr1:218321722-218961624)x1 http://identifiers.org/clinvar/57251 ^@ GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1 http://identifiers.org/clinvar/101176 ^@ NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) http://identifiers.org/clinvar/101226 ^@ NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp) http://identifiers.org/clinvar/101276 ^@ NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) http://identifiers.org/clinvar/101326 ^@ NM_000090.3(COL3A1):c.2915G>C (p.Gly972Ala) http://identifiers.org/clinvar/101376 ^@ NM_000090.3(COL3A1):c.2022G>A (p.Lys674=) http://identifiers.org/clinvar/101426 ^@ NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu) http://identifiers.org/clinvar/102431 ^@ EVC2, 3797T-A, LEU1266TER http://identifiers.org/clinvar/102489 ^@ NM_000277.1(PAH):c.1043_1053delTGTCATCCTTT (p.Leu348Argfs) http://identifiers.org/clinvar/102546 ^@ NM_000277.1(PAH):c.1181A>C (p.Asp394Ala) http://identifiers.org/clinvar/102598 ^@ NM_000277.1(PAH):c.140C>A (p.Ala47Glu) http://identifiers.org/clinvar/102653 ^@ NM_000277.1(PAH):c.352+1G>A http://identifiers.org/clinvar/102704 ^@ NM_000277.1(PAH):c.502T>C (p.Tyr168His) http://identifiers.org/clinvar/102805 ^@ NM_000277.1(PAH):c.722G>T (p.Arg241Leu) http://identifiers.org/clinvar/120240 ^@ NM_017637.5(BNC2):c.2920A>G (p.Ile974Val) http://identifiers.org/clinvar/120290 ^@ NM_000277.1(PAH):c.869A>T (p.His290Leu) http://identifiers.org/clinvar/125447 ^@ NM_001080442.2(SLC38A8):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/125515 ^@ NM_007294.3(BRCA1):c.78_79insCATCTG (p.Ile26_Cys27insHisLeu) http://identifiers.org/clinvar/125595 ^@ NM_007294.3(BRCA1):c.2889_2890delTG (p.Gly964Thrfs) http://identifiers.org/clinvar/125670 ^@ NM_007294.3(BRCA1):c.302-34C>G http://identifiers.org/clinvar/125731 ^@ NM_007294.3(BRCA1):c.4826A>G (p.Glu1609Gly) http://identifiers.org/clinvar/125807 ^@ NM_007294.3(BRCA1):c.5241delA (p.Gly1748Valfs) http://identifiers.org/clinvar/125870 ^@ NM_007294.3(BRCA1):c.5534_5539delACCAGTins20 (p.?) http://identifiers.org/clinvar/125933 ^@ NM_000059.3(BRCA2):c.1074G>T (p.Val358=) http://identifiers.org/clinvar/125997 ^@ NM_000059.3(BRCA2):c.2842dupG (p.Val948Glyfs) http://identifiers.org/clinvar/126064 ^@ NM_000059.3(BRCA2):c.5239_5240insT (p.Asn1747Ilefs) http://identifiers.org/clinvar/126135 ^@ NM_000059.3(BRCA2):c.7379_7380insG (p.Asn2460Lysfs) http://identifiers.org/clinvar/126193 ^@ U43746.1:n.9176_9186del11 http://identifiers.org/clinvar/126253 ^@ NM_025114.3(CEP290):c.2818-50G>C http://identifiers.org/clinvar/126303 ^@ NM_153704.5(TMEM67):c.224-4_224-3del http://identifiers.org/clinvar/126354 ^@ NM_003070.4(SMARCA2):c.717G>A (p.Pro239=) http://identifiers.org/clinvar/126410 ^@ NM_015474.3(SAMHD1):c.359_370delATCCTATCCATG (p.Asp120_His123del) http://identifiers.org/clinvar/126478 ^@ NM_021625.4(TRPV4):c.2396_2412del17 (p.Pro799Leufs) http://identifiers.org/clinvar/126563 ^@ NM_199189.2(MATR3):c.460C>T (p.Pro154Ser) http://identifiers.org/clinvar/126615 ^@ NM_024675.3(PALB2):c.1684+1597T>C http://identifiers.org/clinvar/126667 ^@ NM_024675.3(PALB2):c.2587-59T>C http://identifiers.org/clinvar/126717 ^@ NM_024675.3(PALB2):c.3143A>G (p.Lys1048Arg) http://identifiers.org/clinvar/126768 ^@ NM_024675.3(PALB2):c.757_758delCT (p.Leu253Ilefs) http://identifiers.org/clinvar/126819 ^@ NG_009009.1:g.5279_5281delGCCinsCT http://identifiers.org/clinvar/126872 ^@ NM_000610.3(CD44):c.68-6677C>G http://identifiers.org/clinvar/160977 ^@ GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 http://identifiers.org/clinvar/161028 ^@ GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 http://identifiers.org/clinvar/161078 ^@ GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 http://identifiers.org/clinvar/161128 ^@ NM_152296.4(ATP1A3):c.1003A>C (p.Thr335Pro) http://identifiers.org/clinvar/161260 ^@ NM_000222.2(KIT):c.952A>G (p.Met318Val) http://identifiers.org/clinvar/161210 ^@ NM_000724.3(CACNB2):c.425C>T (p.Ser142Phe) http://identifiers.org/clinvar/161360 ^@ NM_020630.4(RET):c.539G>A (p.Arg180Gln) http://identifiers.org/clinvar/161310 ^@ NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) http://identifiers.org/clinvar/161416 ^@ NM_001130487.1(NDRG4):c.511G>C (p.Val171Leu) http://identifiers.org/clinvar/161579 ^@ NM_001248.3(ENTPD3):c.812T>A (p.Phe271Tyr) http://identifiers.org/clinvar/161829 ^@ NM_173536.3(GABRG1):c.32C>T (p.Pro11Leu) http://identifiers.org/clinvar/161729 ^@ NM_020108.4(ACRV1):c.413C>T (p.Thr138Ile) http://identifiers.org/clinvar/161479 ^@ NM_001004459.1(OR1S2):c.502A>G (p.Ile168Val) http://identifiers.org/clinvar/161629 ^@ NM_005015.3(OXA1L):c.1198A>G (p.Thr400Ala) http://identifiers.org/clinvar/161529 ^@ NM_001143688.2(DIS3L):c.3089G>A (p.Gly1030Glu) http://identifiers.org/clinvar/161779 ^@ NM_031490.4(LONP2):c.471G>T (p.Leu157Phe) http://identifiers.org/clinvar/161679 ^@ NM_014649.2(SAFB2):c.1367C>T (p.Ser456Leu) http://identifiers.org/clinvar/161993 ^@ NM_005154.4(USP8):c.2153C>G (p.Ser718Cys) http://identifiers.org/clinvar/162059 ^@ NM_001244008.1(KIF1A):c.757G>A (p.Glu253Lys) http://identifiers.org/clinvar/162119 ^@ NM_005211.3(CSF1R):c.2528T>A (p.Ile843Asn) http://identifiers.org/clinvar/162178 ^@ NM_000064.3(C3):c.3811-73C>G http://identifiers.org/clinvar/162390 ^@ NM_002335.3(LRP5):c.3468G>C (p.Gln1156His) http://identifiers.org/clinvar/162471 ^@ NM_002730.3(PRKACA):c.597_599dupGTG (p.Leu199_Cys200insTrp) http://identifiers.org/clinvar/162524 ^@ NM_006796.2(AFG3L2):c.1875G>A (p.Met625Ile) http://identifiers.org/clinvar/162611 ^@ NM_032856.3(WDR73):c.766dupC (p.Arg256Profs) http://identifiers.org/clinvar/178579 ^@ NM_206933.2(USH2A):c.5624A>G (p.Asn1875Ser) http://identifiers.org/clinvar/165803 ^@ NM_133378.4(TTN):c.74154T>C (p.Val24718=) http://identifiers.org/clinvar/166478 ^@ NM_206933.2(USH2A):c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp) http://identifiers.org/clinvar/177978 ^@ NM_133378.4(TTN):c.48221T>A (p.Leu16074Gln) http://identifiers.org/clinvar/178848 ^@ NM_001042702.3(DFNB59):c.983G>A (p.Cys328Tyr) http://identifiers.org/clinvar/165911 ^@ NM_133378.4(TTN):c.55361G>A (p.Arg18454His) http://identifiers.org/clinvar/178179 ^@ NM_133378.4(TTN):c.78299T>C (p.Ile26100Thr) http://identifiers.org/clinvar/179098 ^@ NM_133378.4(TTN):c.17160G>A (p.Thr5720=) http://identifiers.org/clinvar/166108 ^@ NM_133378.4(TTN):c.29222G>A (p.Arg9741Gln) http://identifiers.org/clinvar/178229 ^@ NM_133378.4(TTN):c.28303G>A (p.Val9435Ile) http://identifiers.org/clinvar/166241 ^@ NM_133432.3(TTN):c.11196A>T (p.Thr3732=) http://identifiers.org/clinvar/166291 ^@ NM_133378.4(TTN):c.10024G>A (p.Val3342Ile) http://identifiers.org/clinvar/166351 ^@ NM_133378.4(TTN):c.1398+4C>T http://identifiers.org/clinvar/178747 ^@ NM_001369.2(DNAH5):c.6989-13T>C http://identifiers.org/clinvar/162791 ^@ NM_001204.6(BMPR2):c.600A>C (p.Leu200=) http://identifiers.org/clinvar/179198 ^@ NM_133378.4(TTN):c.45813_45815delCAA (p.Lys15272del) http://identifiers.org/clinvar/177927 ^@ NM_003242.5(TGFBR2):c.464C>T (p.Thr155Ile) http://identifiers.org/clinvar/178129 ^@ NM_198056.2(SCN5A):c.5481C>T (p.Ile1827=) http://identifiers.org/clinvar/166566 ^@ NM_006005.3(WFS1):c.96G>A (p.Ser32=) http://identifiers.org/clinvar/165985 ^@ NM_001256850.1(TTN):c.48730G>T (p.Glu16244Ter) http://identifiers.org/clinvar/177827 ^@ NM_003242.5(TGFBR2):c.297A>G (p.Thr99=) http://identifiers.org/clinvar/164490 ^@ NM_000258.2(MYL3):c.11A>G (p.Lys4Arg) http://identifiers.org/clinvar/178379 ^@ NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) http://identifiers.org/clinvar/180087 ^@ NM_004999.3(MYO6):c.441C>T (p.Ile147=) http://identifiers.org/clinvar/198789 ^@ NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) http://identifiers.org/clinvar/198842 ^@ NM_006516.2(SLC2A1):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/198896 ^@ NM_020631.4(PLEKHG5):c.691G>A (p.Gly231Ser) http://identifiers.org/clinvar/198949 ^@ NM_032119.3(ADGRV1):c.17669T>A (p.Met5890Lys) http://identifiers.org/clinvar/199001 ^@ NM_000271.4(NPC1):c.1532C>T (p.Thr511Met) http://identifiers.org/clinvar/199211 ^@ NM_182914.2(SYNE2):c.16480-10C>G http://identifiers.org/clinvar/199711 ^@ NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) http://identifiers.org/clinvar/199933 ^@ NM_004415.3(DSP):c.2708A>G (p.Tyr903Cys) http://identifiers.org/clinvar/199876 ^@ NM_004415.3(DSP):c.3961C>T (p.Gln1321Ter) http://identifiers.org/clinvar/200526 ^@ NM_000238.3(KCNH2):c.3119G>A (p.Ser1040Asn) http://identifiers.org/clinvar/200652 ^@ NM_000238.3(KCNH2):c.2419delG (p.Glu807Serfs) http://identifiers.org/clinvar/200761 ^@ NM_000238.3(KCNH2):c.1954_1956delTATinsCAC (p.Tyr652His) http://identifiers.org/clinvar/200226 ^@ NM_000238.3(KCNH2):c.1683G>A (p.Ala561=) http://identifiers.org/clinvar/200346 ^@ NM_000238.3(KCNH2):c.1496T>G (p.Leu499Arg) http://identifiers.org/clinvar/200101 ^@ NM_000138.4(FBN1):c.7048A>G (p.Ile2350Val) http://identifiers.org/clinvar/200048 ^@ NM_000138.4(FBN1):c.4516C>T (p.Pro1506Ser) http://identifiers.org/clinvar/200161 ^@ NM_000138.4(FBN1):c.4425delC (p.Tyr1476Thrfs) http://identifiers.org/clinvar/199992 ^@ NM_000138.4(FBN1):c.2201G>T (p.Cys734Phe) http://identifiers.org/clinvar/199766 ^@ NM_024422.4(DSC2):c.1231A>G (p.Lys411Glu) http://identifiers.org/clinvar/199822 ^@ NM_001943.4(DSG2):c.464_465insT (p.Glu156Argfs) http://identifiers.org/clinvar/242583 ^@ NM_000414.3(HSD17B4):c.64G>T (p.Gly22Cys) http://identifiers.org/clinvar/231373 ^@ NM_005732.3(RAD50):c.463A>G (p.Ile155Val) http://identifiers.org/clinvar/230973 ^@ NM_005732.3(RAD50):c.3349G>T (p.Val1117Leu) http://identifiers.org/clinvar/231173 ^@ NM_004168.3(SDHA):c.1663+1G>T http://identifiers.org/clinvar/231423 ^@ NM_000535.6(PMS2):c.1092T>A (p.Asp364Glu) http://identifiers.org/clinvar/231623 ^@ NM_000535.6(PMS2):c.360C>T (p.Val120=) http://identifiers.org/clinvar/231873 ^@ NM_000535.6(PMS2):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/231823 ^@ NM_002485.4(NBN):c.811G>A (p.Val271Ile) http://identifiers.org/clinvar/231323 ^@ NM_002485.4(NBN):c.492A>G (p.Ala164=) http://identifiers.org/clinvar/232023 ^@ NM_004329.2(BMPR1A):c.1086C>T (p.Asp362=) http://identifiers.org/clinvar/230284 ^@ NM_000051.3(ATM):c.2116T>C (p.Ser706Pro) http://identifiers.org/clinvar/231073 ^@ NM_000051.3(ATM):c.3356C>A (p.Ala1119Asp) http://identifiers.org/clinvar/230134 ^@ NM_000051.3(ATM):c.5435C>T (p.Ala1812Val) http://identifiers.org/clinvar/232123 ^@ NM_000051.3(ATM):c.6850delG (p.Val2284Leufs) http://identifiers.org/clinvar/231523 ^@ NM_000051.3(ATM):c.8228C>G (p.Thr2743Arg) http://identifiers.org/clinvar/231573 ^@ NM_000051.3(ATM):c.9005delT (p.Phe3002Serfs) http://identifiers.org/clinvar/231473 ^@ NM_005591.3(MRE11):c.1507C>T (p.Arg503Cys) http://identifiers.org/clinvar/231223 ^@ NM_000059.3(BRCA2):c.7026A>G (p.Gln2342=) http://identifiers.org/clinvar/229784 ^@ NM_024675.3(PALB2):c.707dupT (p.Leu237Profs) http://identifiers.org/clinvar/231923 ^@ NM_004360.4(CDH1):c.1137+1delG http://identifiers.org/clinvar/230034 ^@ NM_004360.4(CDH1):c.1533G>T (p.Gln511His) http://identifiers.org/clinvar/231773 ^@ NM_004360.4(CDH1):c.2033T>C (p.Val678Ala) http://identifiers.org/clinvar/231123 ^@ NM_001042492.2(NF1):c.4825G>A (p.Val1609Ile) http://identifiers.org/clinvar/229734 ^@ NM_001042492.2(NF1):c.7838C>T (p.Pro2613Leu) http://identifiers.org/clinvar/232073 ^@ NM_001042492.2(NF1):c.7869A>G (p.Leu2623=) http://identifiers.org/clinvar/229934 ^@ NM_007294.3(BRCA1):c.1434T>G (p.Thr478=) http://identifiers.org/clinvar/231673 ^@ NM_032043.2(BRIP1):c.3691A>G (p.Ile1231Val) http://identifiers.org/clinvar/231723 ^@ NM_032043.2(BRIP1):c.1585G>C (p.Gly529Arg) http://identifiers.org/clinvar/232223 ^@ NM_000546.5(TP53):c.136T>C (p.Ser46Pro) http://identifiers.org/clinvar/229984 ^@ NM_000455.4(STK11):c.291-4C>G http://identifiers.org/clinvar/230234 ^@ NM_007194.3(CHEK2):c.842A>C (p.Asn281Thr) http://identifiers.org/clinvar/230084 ^@ NM_007194.3(CHEK2):c.759A>G (p.Lys253=) http://identifiers.org/clinvar/235051 ^@ NM_001035.2(RYR2):c.10125A>G (p.Arg3375=) http://identifiers.org/clinvar/235001 ^@ NM_000218.2(KCNQ1):c.528G>A (p.Trp176Ter) http://identifiers.org/clinvar/235130 ^@ NM_006016.5(CD164):c.574C>T (p.Arg192Ter) http://identifiers.org/clinvar/235238 ^@ NM_198391.2(FLRT3):c.1129G>A (p.Ala377Thr) http://identifiers.org/clinvar/235292 ^@ NM_019066.4(MAGEL2):c.3746G>A (p.Arg1249His) http://identifiers.org/clinvar/235344 ^@ NM_001083614.1(EARS2):c.809A>G (p.His270Arg) http://identifiers.org/clinvar/235398 ^@ NM_003742.2(ABCB11):c.2594C>T (p.Ala865Val) http://identifiers.org/clinvar/235453 ^@ NM_001098.2(ACO2):c.718G>A (p.Gly240Ser) http://identifiers.org/clinvar/235505 ^@ NM_153252.4(BRWD3):c.3718C>T (p.Arg1240Ter) http://identifiers.org/clinvar/235559 ^@ NM_003482.3(KMT2D):c.13058C>T (p.Pro4353Leu) http://identifiers.org/clinvar/235609 ^@ NM_025114.3(CEP290):c.1825-13_1825-12delCT http://identifiers.org/clinvar/235661 ^@ NM_020435.3(GJC2):c.947C>T (p.Pro316Leu) http://identifiers.org/clinvar/235715 ^@ NM_004525.2(LRP2):c.17C>A (p.Ala6Glu) http://identifiers.org/clinvar/235777 ^@ NM_001172477.1(RRM2B):c.901-4T>G http://identifiers.org/clinvar/236183 ^@ NM_004621.5(TRPC6):c.171-69T>C http://identifiers.org/clinvar/236271 ^@ NM_007294.3(BRCA1):c.4570delT (p.Ser1524Leufs) http://identifiers.org/clinvar/236322 ^@ NC_000017.9:g.14039002_15411904dup1372903 http://identifiers.org/clinvar/236372 ^@ NC_000015.9:g.20044342_28924405dup8880064 http://identifiers.org/clinvar/236423 ^@ NM_015629.3(PRPF31):c.916G>A (p.Asp306Asn) http://identifiers.org/clinvar/240763 ^@ NM_007272.2(CTRC):c.180C>A (p.Gly60=) http://identifiers.org/clinvar/242002 ^@ NM_170707.3(LMNA):c.1255C>T (p.Arg419Cys) http://identifiers.org/clinvar/238169 ^@ NM_000702.3(ATP1A2):c.335C>A (p.Ala112Asp) http://identifiers.org/clinvar/241063 ^@ NM_015627.2(LDLRAP1):c.604_605delTCinsCA (p.Ser202His) http://identifiers.org/clinvar/240713 ^@ NM_006922.3(SCN3A):c.5407G>A (p.Asp1803Asn) http://identifiers.org/clinvar/237819 ^@ NM_000465.3(BARD1):c.1378G>A (p.Ala460Thr) http://identifiers.org/clinvar/239812 ^@ NM_004304.4(ALK):c.267C>A (p.Gly89=) http://identifiers.org/clinvar/237419 ^@ NM_000251.2(MSH2):c.966C>T (p.Gly322=) http://identifiers.org/clinvar/237368 ^@ NM_000251.2(MSH2):c.1387-5T>C http://identifiers.org/clinvar/241013 ^@ NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) http://identifiers.org/clinvar/237769 ^@ NM_000388.3(CASR):c.3138C>A (p.Asp1046Glu) http://identifiers.org/clinvar/237318 ^@ NM_000249.3(MLH1):c.1674A>G (p.Glu558=) http://identifiers.org/clinvar/242202 ^@ NM_198056.2(SCN5A):c.5260A>T (p.Thr1754Ser) http://identifiers.org/clinvar/240663 ^@ NM_006514.3(SCN10A):c.1430C>T (p.Pro477Leu) http://identifiers.org/clinvar/240062 ^@ NM_004656.3(BAP1):c.534C>T (p.Gly178=) http://identifiers.org/clinvar/240913 ^@ NM_014476.5(PDLIM3):c.-124-?_*1634+?dup http://identifiers.org/clinvar/240363 ^@ NM_006206.4(PDGFRA):c.842C>T (p.Thr281Met) http://identifiers.org/clinvar/240313 ^@ NM_006206.4(PDGFRA):c.1663T>C (p.Tyr555His) http://identifiers.org/clinvar/237268 ^@ NM_000222.2(KIT):c.2670C>T (p.Leu890=) http://identifiers.org/clinvar/240213 ^@ NM_005732.3(RAD50):c.1636-9T>A http://identifiers.org/clinvar/241213 ^@ NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) http://identifiers.org/clinvar/239409 ^@ NM_002890.2(RASA1):c.1290G>A (p.Gln430=) http://identifiers.org/clinvar/240163 ^@ NM_005431.1(XRCC2):c.714G>C (p.Arg238Ser) http://identifiers.org/clinvar/241113 ^@ NM_016616.4(NME8):c.610A>G (p.Ile204Val) http://identifiers.org/clinvar/254733 ^@ NM_000038.5(APC):c.933+30A>G http://identifiers.org/clinvar/258522 ^@ NM_001999.3(FBN2):c.6512-3T>C http://identifiers.org/clinvar/257972 ^@ NM_001369.2(DNAH5):c.10197A>C (p.Val3399=) http://identifiers.org/clinvar/258022 ^@ NM_001369.2(DNAH5):c.3834+40C>T http://identifiers.org/clinvar/258072 ^@ NM_001369.2(DNAH5):c.975+30A>C http://identifiers.org/clinvar/255133 ^@ NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) http://identifiers.org/clinvar/260212 ^@ NM_012188.4(FOXI1):c.1044T>C (p.Tyr348=) http://identifiers.org/clinvar/263051 ^@ NM_182925.4(FLT4):c.3537+21G>A http://identifiers.org/clinvar/256083 ^@ NM_000426.3(LAMA2):c.6707+37T>C http://identifiers.org/clinvar/260862 ^@ NM_017651.4(AHI1):c.932-10A>G http://identifiers.org/clinvar/262201 ^@ NM_033071.3(SYNE1):c.8198+20A>T http://identifiers.org/clinvar/261112 ^@ NM_019105.6(TNXB):c.11525-36C>A http://identifiers.org/clinvar/261162 ^@ NM_019105.6(TNXB):c.7553G>A (p.Gly2518Glu) http://identifiers.org/clinvar/257572 ^@ NM_001145717.1(PNPLA1):c.459C>T (p.Phe153=) http://identifiers.org/clinvar/262401 ^@ NM_138694.3(PKHD1):c.390+26A>G http://identifiers.org/clinvar/255183 ^@ NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) http://identifiers.org/clinvar/259611 ^@ NM_005045.3(RELN):c.6671+30dupA http://identifiers.org/clinvar/260262 ^@ NM_012470.3(TNPO3):c.2205C>T (p.Leu735=) http://identifiers.org/clinvar/257922 ^@ NM_001277115.1(DNAH11):c.6835-19A>G http://identifiers.org/clinvar/257872 ^@ NM_001277115.1(DNAH11):c.13305C>T (p.Gly4435=) http://identifiers.org/clinvar/260762 ^@ NM_016616.4(NME8):c.455-46C>T http://identifiers.org/clinvar/255433 ^@ NM_000168.5(GLI3):c.2993C>T (p.Pro998Leu) http://identifiers.org/clinvar/263101 ^@ NM_194456.1(KRIT1):c.510A>G (p.Gln170=) http://identifiers.org/clinvar/262801 ^@ NM_172218.2(SPAG1):c.1338C>G (p.Ala446=) http://identifiers.org/clinvar/257672 ^@ NM_001253816.1(SLC52A2):c.555C>T (p.Leu185=) http://identifiers.org/clinvar/261062 ^@ NM_018941.3(CLN8):c.207G>A (p.Thr69=) http://identifiers.org/clinvar/261312 ^@ NM_020476.2(ANK1):c.4506C>T (p.Arg1502=) http://identifiers.org/clinvar/260912 ^@ NM_017780.3(CHD7):c.6199C>G (p.Gln2067Glu) http://identifiers.org/clinvar/262751 ^@ NM_153704.5(TMEM67):c.313-13dupT http://identifiers.org/clinvar/260412 ^@ NM_014425.4(INVS):c.274-15_274-14delTT http://identifiers.org/clinvar/258622 ^@ NM_002316.3(LMX1B):c.326+7G>C http://identifiers.org/clinvar/260512 ^@ NM_015046.5(SETX):c.6546+32T>A http://identifiers.org/clinvar/262451 ^@ NM_139025.4(ADAMTS13):c.540-33G>A http://identifiers.org/clinvar/255083 ^@ NM_000093.4(COL5A1):c.3852+47A>T http://identifiers.org/clinvar/261362 ^@ NM_020822.2(KCNT1):c.254+18_254+19dupGG http://identifiers.org/clinvar/254883 ^@ NM_000077.4(CDKN2A):c.151-1238G>A http://identifiers.org/clinvar/257522 ^@ NM_001128227.2(GNE):c.1338C>A (p.Gly446=) http://identifiers.org/clinvar/258172 ^@ NM_001698.2(AUH):c.844-20T>C http://identifiers.org/clinvar/255683 ^@ NM_000264.3(PTCH1):c.3450-15C>T http://identifiers.org/clinvar/262851 ^@ NM_173551.4(ANKS6):c.330C>T (p.Tyr110=) http://identifiers.org/clinvar/260162 ^@ NM_007373.3(SHOC2):c.303T>C (p.Asn101=) http://identifiers.org/clinvar/260812 ^@ NM_017433.4(MYO3A):c.731+20G>A http://identifiers.org/clinvar/260462 ^@ NM_014915.2(ANKRD26):c.2376-4G>A http://identifiers.org/clinvar/262151 ^@ NM_033056.3(PCDH15):c.877-29G>T http://identifiers.org/clinvar/255483 ^@ NM_000188.2(HK1):c.1443G>A (p.Lys481=) http://identifiers.org/clinvar/260312 ^@ NM_014000.2(VCL):c.2091C>A (p.Thr697=) http://identifiers.org/clinvar/260112 ^@ NM_007078.2(LDB3):c.690-50G>C http://identifiers.org/clinvar/260712 ^@ NM_016341.3(PLCE1):c.1643G>T (p.Arg548Leu) http://identifiers.org/clinvar/255933 ^@ NM_000352.4(ABCC8):c.4545+13C>T http://identifiers.org/clinvar/255533 ^@ NM_000207.2(INS):c.63A>G (p.Pro21=) http://identifiers.org/clinvar/263251 ^@ NM_199292.2(TH):c.1293+9C>T http://identifiers.org/clinvar/258572 ^@ NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr) http://identifiers.org/clinvar/255733 ^@ NM_000277.1(PAH):c.*19G>T http://identifiers.org/clinvar/258222 ^@ NM_001844.4(COL2A1):c.2094+12G>C http://identifiers.org/clinvar/262251 ^@ NM_052867.2(NALCN):c.1836A>G (p.Lys612=) http://identifiers.org/clinvar/254783 ^@ NM_000059.3(BRCA2):c.3681G>A (p.Leu1227=) http://identifiers.org/clinvar/263301 ^@ NM_207361.5(FREM2):c.7398A>G (p.Thr2466=) http://identifiers.org/clinvar/255633 ^@ NM_000257.3(MYH7):c.797-19_797-17delTCT http://identifiers.org/clinvar/335648 ^@ NM_001029883.2(C2orf71):c.2530G>C (p.Ala844Pro) http://identifiers.org/clinvar/335698 ^@ NM_004304.4(ALK):c.3057C>A (p.Val1019=) http://identifiers.org/clinvar/335048 ^@ NM_002242.4(KCNJ13):c.*181_*182delCT http://identifiers.org/clinvar/335148 ^@ NM_004369.3(COL6A3):c.-115G>A http://identifiers.org/clinvar/333107 ^@ NM_000393.4(COL5A2):c.*1400A>G http://identifiers.org/clinvar/335998 ^@ NM_005633.3(SOS1):c.*1303C>A http://identifiers.org/clinvar/336098 ^@ NM_133259.3(LRPPRC):c.*2277A>G http://identifiers.org/clinvar/333057 ^@ NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) http://identifiers.org/clinvar/333457 ^@ NM_032977.3(CASP10):c.*1038C>T http://identifiers.org/clinvar/336298 ^@ NM_001430.4(EPAS1):c.*717_*718delAG http://identifiers.org/clinvar/336348 ^@ NM_139279.5(MCFD2):c.*1908G>C http://identifiers.org/clinvar/335598 ^@ NM_001029883.2(C2orf71):c.*1704A>G http://identifiers.org/clinvar/333707 ^@ NM_001204.6(BMPR2):c.*5198A>C http://identifiers.org/clinvar/335748 ^@ NM_000379.3(XDH):c.*823A>G http://identifiers.org/clinvar/335798 ^@ NM_000379.3(XDH):c.530C>A (p.Pro177Gln) http://identifiers.org/clinvar/333957 ^@ NM_015040.3(PIKFYVE):c.*1429G>C http://identifiers.org/clinvar/336148 ^@ NM_133259.3(LRPPRC):c.3737A>G (p.Asn1246Ser) http://identifiers.org/clinvar/333657 ^@ NM_001204.6(BMPR2):c.*221C>T http://identifiers.org/clinvar/334108 ^@ NM_000384.2(APOB):c.9883T>C (p.Tyr3295His) http://identifiers.org/clinvar/336248 ^@ NM_001430.4(EPAS1):c.574-11G>A http://identifiers.org/clinvar/334158 ^@ NM_000384.2(APOB):c.3178T>C (p.Leu1060=) http://identifiers.org/clinvar/334058 ^@ NM_000384.2(APOB):c.*207C>A http://identifiers.org/clinvar/334359 ^@ NM_004328.4(BCS1L):c.768C>G (p.Leu256=) http://identifiers.org/clinvar/334409 ^@ NM_025216.2(WNT10A):c.918C>G (p.Asn306Lys) http://identifiers.org/clinvar/342345 ^@ NM_016247.3(IMPG2):c.2431T>G (p.Ser811Ala) http://identifiers.org/clinvar/342545 ^@ NM_198196.2(CD96):c.1499C>T (p.Thr500Met) http://identifiers.org/clinvar/334948 ^@ NM_152383.4(DIS3L2):c.2637C>T (p.Pro879=) http://identifiers.org/clinvar/342895 ^@ NM_053025.3(MYLK):c.1651+7T>C http://identifiers.org/clinvar/342945 ^@ NM_000373.3(UMPS):c.*983C>T http://identifiers.org/clinvar/342395 ^@ NM_033084.4(FANCD2):c.*688A>G http://identifiers.org/clinvar/334998 ^@ NM_005199.4(CHRNG):c.57G>C (p.Gly19=) http://identifiers.org/clinvar/335498 ^@ NM_000221.2(KHK):c.818G>A (p.Ser273Asn) http://identifiers.org/clinvar/335448 ^@ NM_194248.2(OTOF):c.2106T>A (p.His702Gln) http://identifiers.org/clinvar/335548 ^@ NM_144631.5(ZNF513):c.*271_*275delACTTA http://identifiers.org/clinvar/342995 ^@ NM_000373.3(UMPS):c.*3083G>T http://identifiers.org/clinvar/335948 ^@ NM_000104.3(CYP1B1):c.*105C>T http://identifiers.org/clinvar/343984 ^@ NM_020800.2(IFT80):c.-31G>A http://identifiers.org/clinvar/336048 ^@ NM_022436.2(ABCG5):c.785A>G (p.Lys262Arg) http://identifiers.org/clinvar/343245 ^@ NM_052985.3(IFT122):c.1953C>T (p.Ser651=) http://identifiers.org/clinvar/354450 ^@ NM_004385.4(VCAN):c.7895C>T (p.Thr2632Ile) http://identifiers.org/clinvar/357340 ^@ NM_003221.3(TFAP2B):c.*3096A>G http://identifiers.org/clinvar/354700 ^@ NM_001491.2(GCNT2):c.52_54delATT (p.Ile18del) http://identifiers.org/clinvar/357790 ^@ NM_018368.3(LMBRD1):c.-276A>G http://identifiers.org/clinvar/357840 ^@ NM_014989.5(RIMS1):c.1459G>A (p.Ala487Thr) http://identifiers.org/clinvar/357890 ^@ NM_014989.5(RIMS1):c.*1964C>A http://identifiers.org/clinvar/354800 ^@ NM_001242957.2(MAK):c.861T>G (p.Gly287=) http://identifiers.org/clinvar/355000 ^@ NM_004752.3(GCM2):c.*611T>C http://identifiers.org/clinvar/355951 ^@ NM_033071.3(SYNE1):c.92G>A (p.Arg31Gln) http://identifiers.org/clinvar/352013 ^@ NM_000112.3(SLC26A2):c.-238G>A http://identifiers.org/clinvar/359529 ^@ NM_001101426.3(ISPD):c.*2310A>G http://identifiers.org/clinvar/359679 ^@ NM_001277115.1(DNAH11):c.11546G>T (p.Gly3849Val) http://identifiers.org/clinvar/359779 ^@ NM_032581.3(FAM126A):c.626+5A>G http://identifiers.org/clinvar/359829 ^@ NM_004403.2(DFNA5):c.*333T>G http://identifiers.org/clinvar/352211 ^@ NM_001135243.1(TCOF1):c.1671T>C (p.Asp557=) http://identifiers.org/clinvar/352311 ^@ NM_000171.3(GLRA1):c.993C>T (p.Ala331=) http://identifiers.org/clinvar/360079 ^@ NM_198428.2(BBS9):c.*444G>A http://identifiers.org/clinvar/352661 ^@ NM_000816.3(GABRG2):c.*1427C>T http://identifiers.org/clinvar/360179 ^@ NM_000168.5(GLI3):c.*2019C>T http://identifiers.org/clinvar/356840 ^@ NM_014780.4(CUL7):c.2287C>A (p.Leu763Met) http://identifiers.org/clinvar/352561 ^@ NM_002187.2(IL12B):c.*780G>A http://identifiers.org/clinvar/352761 ^@ NM_001017995.2(SH3PXD2B):c.*2309A>T http://identifiers.org/clinvar/352961 ^@ NM_003052.4(SLC34A1):c.437C>T (p.Pro146Leu) http://identifiers.org/clinvar/357140 ^@ NM_001024630.3(RUNX2):c.*3159C>T http://identifiers.org/clinvar/353011 ^@ NM_006261.4(PROP1):c.*52G>A http://identifiers.org/clinvar/352861 ^@ NM_002449.4(MSX2):c.*1096A>G http://identifiers.org/clinvar/353061 ^@ NM_014244.4(ADAMTS2):c.*1579_*1585delTTCTTAA http://identifiers.org/clinvar/357290 ^@ NM_003221.3(TFAP2B):c.*136T>A http://identifiers.org/clinvar/353161 ^@ NM_003900.4(SQSTM1):c.687G>A (p.Ser229=) http://identifiers.org/clinvar/353111 ^@ NM_014244.4(ADAMTS2):c.2145C>T (p.Cys715=) http://identifiers.org/clinvar/357490 ^@ NM_018100.3(EFHC1):c.*140C>T http://identifiers.org/clinvar/357640 ^@ NM_183227.2(RAB23):c.619G>A (p.Gly207Ser) http://identifiers.org/clinvar/357690 ^@ NM_001142800.1(EYS):c.7620A>C (p.Arg2540Ser) http://identifiers.org/clinvar/353311 ^@ NM_004172.4(SLC1A3):c.320-7C>T http://identifiers.org/clinvar/353411 ^@ NM_023073.3(C5orf42):c.*396T>C http://identifiers.org/clinvar/357940 ^@ NM_004415.3(DSP):c.1469G>A (p.Arg490His) http://identifiers.org/clinvar/363788 ^@ NM_000318.2(PEX2):c.*1765G>A http://identifiers.org/clinvar/363838 ^@ NM_000067.2(CA2):c.*212A>G http://identifiers.org/clinvar/363888 ^@ NM_019098.4(CNGB3):c.43G>C (p.Gly15Arg) http://identifiers.org/clinvar/306774 ^@ NM_024312.4(GNPTAB):c.*1127_*1129dupGTT http://identifiers.org/clinvar/306974 ^@ NM_080911.2(UNG):c.544A>G (p.Ile182Val) http://identifiers.org/clinvar/307124 ^@ NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) http://identifiers.org/clinvar/307174 ^@ NM_001681.3(ATP2A2):c.1878C>T (p.Asp626=) http://identifiers.org/clinvar/307324 ^@ NM_005996.3(TBX3):c.*1539delT http://identifiers.org/clinvar/307374 ^@ NM_005996.3(TBX3):c.619C>T (p.Leu207=) http://identifiers.org/clinvar/307574 ^@ NM_012463.3(ATP6V0A2):c.-170C>A http://identifiers.org/clinvar/307674 ^@ NM_004064.4(CDKN1B):c.*173T>C http://identifiers.org/clinvar/364827 ^@ NM_000177.4(GSN):c.2095A>G (p.Met699Val) http://identifiers.org/clinvar/307924 ^@ NM_019844.3(SLCO1B3):c.*548A>T http://identifiers.org/clinvar/364877 ^@ NM_002316.3(LMX1B):c.381C>T (p.Phe127=) http://identifiers.org/clinvar/364927 ^@ NM_002316.3(LMX1B):c.*1389T>G http://identifiers.org/clinvar/365127 ^@ NM_001003722.1(GLE1):c.-84A>C http://identifiers.org/clinvar/365627 ^@ NM_014694.3(ADAMTSL2):c.*610G>A http://identifiers.org/clinvar/365227 ^@ NM_000113.2(TOR1A):c.*216C>T http://identifiers.org/clinvar/365727 ^@ NM_000093.4(COL5A1):c.4275C>T (p.Ile1425=) http://identifiers.org/clinvar/365477 ^@ NM_000368.4(TSC1):c.*1488C>T http://identifiers.org/clinvar/365978 ^@ NM_016219.4(MAN1B1):c.2016C>T (p.Phe672=) http://identifiers.org/clinvar/298431 ^@ NM_004376.6(COX15):c.-406C>G http://identifiers.org/clinvar/309463 ^@ NM_000020.2(ACVRL1):c.*1021T>C http://identifiers.org/clinvar/302130 ^@ NM_001080463.1(DYNC2H1):c.12875A>G (p.Asp4292Gly) http://identifiers.org/clinvar/365877 ^@ NM_019892.5(INPP5E):c.*98G>A http://identifiers.org/clinvar/365928 ^@ NM_006412.3(AGPAT2):c.335C>T (p.Pro112Leu) http://identifiers.org/clinvar/309813 ^@ NM_002905.3(RDH5):c.481A>G (p.Ile161Val) http://identifiers.org/clinvar/309963 ^@ NM_000075.3(CDK4):c.*777dupA http://identifiers.org/clinvar/302330 ^@ NM_002906.3(RDX):c.*1173A>G http://identifiers.org/clinvar/366428 ^@ NM_000459.4(TEK):c.1694C>G (p.Pro565Arg) http://identifiers.org/clinvar/302380 ^@ NM_024740.2(ALG9):c.*2480_*2481delCA http://identifiers.org/clinvar/366528 ^@ NM_001256054.2(C9orf72):c.288A>G (p.Ser96=) http://identifiers.org/clinvar/302580 ^@ NM_001558.3(IL10RA):c.*1730G>A http://identifiers.org/clinvar/310363 ^@ NM_000365.5(TPI1):c.544-14G>A http://identifiers.org/clinvar/366578 ^@ NM_203447.3(DOCK8):c.828-7A>G http://identifiers.org/clinvar/302630 ^@ NM_174934.3(SCN4B):c.*905C>G http://identifiers.org/clinvar/366328 ^@ NM_003070.4(SMARCA2):c.*5T>C http://identifiers.org/clinvar/366378 ^@ NM_003383.4(VLDLR):c.*83C>T http://identifiers.org/clinvar/310668 ^@ NM_001920.4(DCN):c.-307A>G http://identifiers.org/clinvar/366478 ^@ NM_000459.4(TEK):c.*922G>A http://identifiers.org/clinvar/314756 ^@ NM_000153.3(GALC):c.329-10_329-8delCTC http://identifiers.org/clinvar/322581 ^@ NM_000267.3(NF1):c.*584G>T http://identifiers.org/clinvar/322631 ^@ NM_000049.2(ASPA):c.-152C>T http://identifiers.org/clinvar/322781 ^@ NM_145068.3(TRPV3):c.1044C>T (p.Ala348=) http://identifiers.org/clinvar/322881 ^@ NM_004937.2(CTNS):c.*1152A>G http://identifiers.org/clinvar/315406 ^@ NM_144599.4(NIPA1):c.*1115C>T http://identifiers.org/clinvar/341745 ^@ NM_022098.3(XPNPEP3):c.*4561G>A http://identifiers.org/clinvar/323081 ^@ NM_002274.3(KRT13):c.1009T>C (p.Ser337Pro) http://identifiers.org/clinvar/341845 ^@ NM_001429.3(EP300):c.*592delA http://identifiers.org/clinvar/315456 ^@ NM_000275.2(OCA2):c.*166C>T http://identifiers.org/clinvar/323131 ^@ NM_000226.3(KRT9):c.1011C>T (p.Asn337=) http://identifiers.org/clinvar/341945 ^@ NM_025225.2(PNPLA3):c.1358G>T (p.Ser453Ile) http://identifiers.org/clinvar/323331 ^@ NM_032387.4(WNK4):c.1864-11T>C http://identifiers.org/clinvar/342145 ^@ NM_001953.4(TYMP):c.858G>A (p.Glu286=) http://identifiers.org/clinvar/367696 ^@ NM_000061.2(BTK):c.895-10G>A http://identifiers.org/clinvar/367746 ^@ NM_002294.2(LAMP2):c.*3687T>C http://identifiers.org/clinvar/367846 ^@ NM_001167.3(XIAP):c.*5180dupA http://identifiers.org/clinvar/315906 ^@ NM_138477.2(CDAN1):c.*827A>G http://identifiers.org/clinvar/316106 ^@ NM_025137.3(SPG11):c.1801C>A (p.Pro601Thr) http://identifiers.org/clinvar/368346 ^@ NM_003334.3(UBA1):c.2838+8C>T http://identifiers.org/clinvar/368396 ^@ NM_007137.3(ZNF81):c.1539C>A (p.Leu513=) http://identifiers.org/clinvar/317345 ^@ NM_198525.2(KIF7):c.*133G>T http://identifiers.org/clinvar/315356 ^@ NM_144599.4(NIPA1):c.*3702C>T http://identifiers.org/clinvar/317446 ^@ NM_000875.4(IGF1R):c.1462+15C>G http://identifiers.org/clinvar/317646 ^@ NM_000875.4(IGF1R):c.*6697dupA http://identifiers.org/clinvar/315706 ^@ NM_005159.4(ACTC1):c.809-18_809-13dupTGTGTG http://identifiers.org/clinvar/315856 ^@ NM_144508.4(KNL1):c.2963T>A (p.Val988Glu) http://identifiers.org/clinvar/316006 ^@ NM_000119.2(EPB42):c.*21T>A http://identifiers.org/clinvar/317946 ^@ NM_001287.5(CLCN7):c.2028G>C (p.Gln676His) http://identifiers.org/clinvar/316206 ^@ NM_001482.2(GATM):c.*600A>G http://identifiers.org/clinvar/316256 ^@ NM_000338.2(SLC12A1):c.497A>G (p.Asn166Ser) http://identifiers.org/clinvar/318148 ^@ NM_001143979.1(NDE1):c.*1723C>T http://identifiers.org/clinvar/371951 ^@ NM_000535.6(PMS2):c.23+6C>T http://identifiers.org/clinvar/371901 ^@ NM_000077.4(CDKN2A):c.150+216A>G http://identifiers.org/clinvar/372001 ^@ NM_001256849.1(POLD1):c.590-2A>G http://identifiers.org/clinvar/374920 ^@ NM_001128608.1(MAPKBP1):c.2827C>T (p.Gln943Ter) http://identifiers.org/clinvar/374978 ^@ NM_001135599.3(TGFB2):c.1137G>A (p.Pro379=) http://identifiers.org/clinvar/375253 ^@ NM_000243.2(MEFV):c.1099C>G (p.Leu367Val) http://identifiers.org/clinvar/375311 ^@ NM_015692.2(CPAMD8):c.4549-1G>A http://identifiers.org/clinvar/375364 ^@ NM_000520.5(HEXA):c.1432G>A (p.Gly478Arg) http://identifiers.org/clinvar/375418 ^@ NM_000216.3(ANOS1):c.1904A>C (p.Gln635Pro) http://identifiers.org/clinvar/375484 ^@ NM_001003694.1(BRPF1):c.1108C>T (p.Pro370Ser) http://identifiers.org/clinvar/375538 ^@ NM_021098.2(CACNA1H):c.1546C>T (p.His516Tyr) http://identifiers.org/clinvar/378162 ^@ NM_000179.2(MSH6):c.458-8C>G http://identifiers.org/clinvar/383757 ^@ NM_015120.4(ALMS1):c.4182A>G (p.Gln1394=) http://identifiers.org/clinvar/378312 ^@ NM_015560.2(OPA1):c.2707+15G>C http://identifiers.org/clinvar/388286 ^@ NM_000249.3(MLH1):c.1380G>A (p.Glu460=) http://identifiers.org/clinvar/381853 ^@ NM_015560.2(OPA1):c.756C>T (p.Asp252=) http://identifiers.org/clinvar/386097 ^@ NM_033337.2(CAV3):c.-48C>T http://identifiers.org/clinvar/382705 ^@ NM_000249.3(MLH1):c.1668-7T>C http://identifiers.org/clinvar/382003 ^@ NM_000179.2(MSH6):c.93C>T (p.Gly31=) http://identifiers.org/clinvar/380812 ^@ NM_024582.4(FAT4):c.1358A>T (p.Gln453Leu) http://identifiers.org/clinvar/385897 ^@ NM_024582.4(FAT4):c.3096A>G (p.Ala1032=) http://identifiers.org/clinvar/386897 ^@ NM_032806.5(POMGNT2):c.1384C>T (p.Arg462Trp) http://identifiers.org/clinvar/379309 ^@ NM_000094.3(COL7A1):c.5291G>C (p.Gly1764Ala) http://identifiers.org/clinvar/386047 ^@ NM_052859.3(RFT1):c.1458+18A>T http://identifiers.org/clinvar/388736 ^@ NM_000038.5(APC):c.531+16G>A http://identifiers.org/clinvar/388986 ^@ NM_001182.4(ALDH7A1):c.960C>T (p.Phe320=) http://identifiers.org/clinvar/385097 ^@ NM_001999.3(FBN2):c.5548+9A>C http://identifiers.org/clinvar/388786 ^@ NM_002290.4(LAMA4):c.1939-3T>C http://identifiers.org/clinvar/388886 ^@ NM_000340.1(SLC2A2):c.1038C>T (p.Gly346=) http://identifiers.org/clinvar/379259 ^@ NM_003060.3(SLC22A5):c.77G>A (p.Ser26Asn) http://identifiers.org/clinvar/384407 ^@ NM_000816.3(GABRG2):c.954C>T (p.Leu318=) http://identifiers.org/clinvar/383556 ^@ NM_000249.3(MLH1):c.1410-8C>T http://identifiers.org/clinvar/388636 ^@ NM_014324.5(AMACR):c.966C>T (p.Asp322=) http://identifiers.org/clinvar/379809 ^@ NM_000046.3(ARSB):c.1325C>T (p.Thr442Met) http://identifiers.org/clinvar/377460 ^@ NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) http://identifiers.org/clinvar/392135 ^@ NM_001167734.1(VARS2):c.2196+18G>A http://identifiers.org/clinvar/380160 ^@ NM_001167734.1(VARS2):c.2748C>T (p.Pro916=) http://identifiers.org/clinvar/389036 ^@ NM_001457.3(FLNB):c.1534G>A (p.Ala512Thr) http://identifiers.org/clinvar/382905 ^@ NM_002291.2(LAMB1):c.1483-14G>A http://identifiers.org/clinvar/380360 ^@ NM_018100.3(EFHC1):c.-13G>A http://identifiers.org/clinvar/392235 ^@ NM_001851.4(COL9A1):c.1816C>T (p.Pro606Ser) http://identifiers.org/clinvar/385647 ^@ NM_004415.3(DSP):c.692A>G (p.Tyr231Cys) http://identifiers.org/clinvar/385047 ^@ NM_005506.3(SCARB2):c.1273C>T (p.Leu425=) http://identifiers.org/clinvar/379609 ^@ NM_004333.4(BRAF):c.2224G>A (p.Asp742Asn) http://identifiers.org/clinvar/377810 ^@ NM_004415.3(DSP):c.3843C>T (p.Gly1281=) http://identifiers.org/clinvar/383857 ^@ NM_000038.5(APC):c.6837A>G (p.Lys2279=) http://identifiers.org/clinvar/380060 ^@ NM_006348.3(COG5):c.1042-18A>G http://identifiers.org/clinvar/385297 ^@ NM_000535.6(PMS2):c.2445+8A>G http://identifiers.org/clinvar/377710 ^@ NM_014141.5(CNTNAP2):c.2883C>T (p.Ser961=) http://identifiers.org/clinvar/377960 ^@ NM_000238.3(KCNH2):c.2965+15G>A http://identifiers.org/clinvar/379659 ^@ NM_000445.4(PLEC):c.11833A>G (p.Ile3945Val) http://identifiers.org/clinvar/387836 ^@ NM_001130438.2(SPTAN1):c.3639G>A (p.Glu1213=) http://identifiers.org/clinvar/388936 ^@ NM_023073.3(C5orf42):c.9252G>A (p.Pro3084=) http://identifiers.org/clinvar/385347 ^@ NM_021167.4(GATAD1):c.249+11C>G http://identifiers.org/clinvar/379059 ^@ NM_003165.3(STXBP1):c.1287C>T (p.His429=) http://identifiers.org/clinvar/379910 ^@ NM_001130438.2(SPTAN1):c.3587G>C (p.Arg1196Pro) http://identifiers.org/clinvar/134651 ^@ NM_001127500.2(MET):c.4141G>A (p.Ala1381Thr) http://identifiers.org/clinvar/184332 ^@ NM_001042492.2(NF1):c.7554C>G (p.Ala2518=) http://identifiers.org/clinvar/184532 ^@ NM_001042492.2(NF1):c.*4T>C http://identifiers.org/clinvar/183931 ^@ NM_007294.3(BRCA1):c.4776C>G (p.Asn1592Lys) http://identifiers.org/clinvar/183982 ^@ NM_007294.3(BRCA1):c.217C>T (p.Leu73=) http://identifiers.org/clinvar/185371 ^@ NM_005359.5(SMAD4):c.898_904+1dupCATTACTG http://identifiers.org/clinvar/184032 ^@ NM_000455.4(STK11):c.617C>T (p.Ala206Val) http://identifiers.org/clinvar/184182 ^@ NM_000455.4(STK11):c.1254C>T (p.Cys418=) http://identifiers.org/clinvar/188775 ^@ NM_000030.2(AGXT):c.33delC (p.Lys12Argfs) http://identifiers.org/clinvar/189127 ^@ NM_000187.3(HGD):c.342+1G>T http://identifiers.org/clinvar/189077 ^@ NM_000112.3(SLC26A2):c.451delT (p.Tyr151Ilefs) http://identifiers.org/clinvar/188876 ^@ NM_138694.3(PKHD1):c.2279G>A (p.Arg760His) http://identifiers.org/clinvar/188926 ^@ NM_000136.2(FANCC):c.65G>A (p.Trp22Ter) http://identifiers.org/clinvar/189177 ^@ NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) http://identifiers.org/clinvar/188725 ^@ NM_000053.3(ATP7B):c.2731-2A>G http://identifiers.org/clinvar/188825 ^@ NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) http://identifiers.org/clinvar/189244 ^@ NM_004509.3(SP110):c.877A>T (p.Lys293Ter) http://identifiers.org/clinvar/189296 ^@ NM_000527.4(LDLR):c.313+2T>C http://identifiers.org/clinvar/189359 ^@ NM_198897.1(FIBP):c.673C>T (p.Gln225Ter) http://identifiers.org/clinvar/189445 ^@ NM_000314.6(PTEN):c.-1247dupT http://identifiers.org/clinvar/189516 ^@ NM_001103.3(ACTN2):c.2276G>C (p.Arg759Thr) http://identifiers.org/clinvar/189617 ^@ NM_005249.4(FOXG1):c.610C>T (p.Leu204Phe) http://identifiers.org/clinvar/189667 ^@ NM_004992.3(MECP2):c.(?_1169)_(1397_?)del (p.(?)) http://identifiers.org/clinvar/189717 ^@ NM_004992.3(MECP2):c.763_1383del621ins15 (p.?) http://identifiers.org/clinvar/189767 ^@ NM_001110792.1(MECP2):c.30delCinsGA (p.Ser10Argfs) http://identifiers.org/clinvar/189567 ^@ NM_003159.2(CDKL5):c.1854delC (p.Asp618Glufs) http://identifiers.org/clinvar/8779 ^@ NM_003476.4(CSRP3):c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly) http://identifiers.org/clinvar/189851 ^@ NM_001165963.1(SCN1A):c.5250_5252delCTC (p.Ser1750_Ser1751delinsArg) http://identifiers.org/clinvar/190001 ^@ NM_001165963.1(SCN1A):c.2980_2981delTC (p.Ser994Ilefs) http://identifiers.org/clinvar/189901 ^@ NM_001165963.1(SCN1A):c.2261G>T (p.Trp754Leu) http://identifiers.org/clinvar/189951 ^@ NM_001165963.1(SCN1A):c.896_905delATTATAATGG (p.Asn299Ilefs) http://identifiers.org/clinvar/190122 ^@ NM_019066.4(MAGEL2):c.1996dupC (p.Gln666Profs) http://identifiers.org/clinvar/190186 ^@ NM_001110556.1(FLNA):c.2023-6C>T http://identifiers.org/clinvar/190237 ^@ NM_001572.3(IRF7):c.1228T>G (p.Phe410Val) http://identifiers.org/clinvar/190318 ^@ NM_153816.5(SNX14):c.1132C>T (p.Arg378Ter) http://identifiers.org/clinvar/190373 ^@ NM_006017.2(PROM1):c.2077-521A>G http://identifiers.org/clinvar/226560 ^@ NM_004403.2(DFNA5):c.87T>A (p.Asp29Glu) http://identifiers.org/clinvar/229182 ^@ NM_001134363.2(RBM20):c.1024C>A (p.Pro342Thr) http://identifiers.org/clinvar/228982 ^@ NM_017433.4(MYO3A):c.2918G>A (p.Arg973Gln) http://identifiers.org/clinvar/227010 ^@ NM_033056.3(PCDH15):c.4831_4834dupAACA (p.Thr1612Lysfs) http://identifiers.org/clinvar/229132 ^@ NM_033056.3(PCDH15):c.128T>C (p.Ile43Thr) http://identifiers.org/clinvar/228482 ^@ NM_022124.5(CDH23):c.4046G>A (p.Arg1349His) http://identifiers.org/clinvar/229632 ^@ NM_014000.2(VCL):c.622+4C>G http://identifiers.org/clinvar/227061 ^@ NM_005411.4(SFTPA1):c.117C>T (p.His39=) http://identifiers.org/clinvar/226860 ^@ NM_001277269.1(OTOG):c.1123A>T (p.Thr375Ser) http://identifiers.org/clinvar/226910 ^@ NM_001277269.1(OTOG):c.7571G>A (p.Arg2524His) http://identifiers.org/clinvar/226660 ^@ NM_181507.1(HPS5):c.139T>C (p.Leu47=) http://identifiers.org/clinvar/227462 ^@ NM_000218.2(KCNQ1):c.1795-4G>A http://identifiers.org/clinvar/228932 ^@ NM_000432.3(MYL2):c.101C>T (p.Thr34Ile) http://identifiers.org/clinvar/227161 ^@ NM_020297.3(ABCC9):c.3729G>A (p.Ser1243=) http://identifiers.org/clinvar/226960 ^@ NM_173591.3(OTOGL):c.5683G>A (p.Asp1895Asn) http://identifiers.org/clinvar/227592 ^@ NM_002471.3(MYH6):c.5112G>A (p.Ala1704=) http://identifiers.org/clinvar/227362 ^@ NM_004452.3(ESRRB):c.1057+11C>T http://identifiers.org/clinvar/226610 ^@ NM_023036.4(DNAI2):c.1483G>A (p.Val495Ile) http://identifiers.org/clinvar/226810 ^@ NM_003803.3(MYOM1):c.2179A>G (p.Thr727Ala) http://identifiers.org/clinvar/228632 ^@ NM_001943.4(DSG2):c.2468A>G (p.Asp823Gly) http://identifiers.org/clinvar/228832 ^@ NM_144612.6(LOXHD1):c.5214-7C>G http://identifiers.org/clinvar/227512 ^@ NM_144612.6(LOXHD1):c.2316C>T (p.Ile772=) http://identifiers.org/clinvar/226710 ^@ NM_000527.4(LDLR):c.1060+7T>C http://identifiers.org/clinvar/229282 ^@ NM_001039876.2(SYNE4):c.1025A>G (p.Asn342Ser) http://identifiers.org/clinvar/226510 ^@ NM_001039213.3(CEACAM16):c.941-14C>T http://identifiers.org/clinvar/228882 ^@ NM_024729.3(MYH14):c.5867C>T (p.Thr1956Met) http://identifiers.org/clinvar/229332 ^@ NM_000363.4(TNNI3):c.538delG (p.Asp180Thrfs) http://identifiers.org/clinvar/227312 ^@ NM_004006.2(DMD):c.9564-6T>C http://identifiers.org/clinvar/228582 ^@ NM_004006.2(DMD):c.2950-9G>T http://identifiers.org/clinvar/228432 ^@ NM_001614.3(ACTG1):c.377C>T (p.Thr126Ile) http://identifiers.org/clinvar/228782 ^@ NM_002290.4(LAMA4):c.4031A>G (p.Lys1344Arg) http://identifiers.org/clinvar/229382 ^@ NM_144991.2(TSPEAR):c.81A>C (p.Thr27=) http://identifiers.org/clinvar/234810 ^@ NM_000136.2(FANCC):c.388G>T (p.Glu130Ter) http://identifiers.org/clinvar/234861 ^@ NM_000314.6(PTEN):c.1069C>A (p.Pro357Thr) http://identifiers.org/clinvar/234911 ^@ NM_000059.3(BRCA2):c.7435+3A>G http://identifiers.org/clinvar/231273 ^@ NM_000251.2(MSH2):c.-68-17G>A http://identifiers.org/clinvar/229834 ^@ NM_000179.2(MSH6):c.1713T>C (p.Gly571=) http://identifiers.org/clinvar/231023 ^@ NM_000179.2(MSH6):c.2370T>C (p.Asp790=) http://identifiers.org/clinvar/230184 ^@ NM_000249.3(MLH1):c.808A>G (p.Thr270Ala) http://identifiers.org/clinvar/231973 ^@ NM_000038.5(APC):c.358A>C (p.Arg120=) http://identifiers.org/clinvar/229684 ^@ NM_000038.5(APC):c.772G>C (p.Glu258Gln) http://identifiers.org/clinvar/232173 ^@ NM_000038.5(APC):c.2485A>G (p.Thr829Ala) http://identifiers.org/clinvar/263355 ^@ NM_080647.1(TBX1):c.1059A>G (p.Ala353=) http://identifiers.org/clinvar/264415 ^@ NM_001456.3(FLNA):c.7584C>T (p.Asp2528=) http://identifiers.org/clinvar/267016 ^@ NM_000059.3(BRCA2):c.7503_7506delACGC (p.Arg2502Serfs) http://identifiers.org/clinvar/267066 ^@ NM_000059.3(BRCA2):c.8295T>A (p.Cys2765Ter) http://identifiers.org/clinvar/267673 ^@ NM_000059.3(BRCA2):c.7008-?_9117+?del http://identifiers.org/clinvar/267723 ^@ NM_000059.3(BRCA2):c.9257-3_9258del http://identifiers.org/clinvar/267573 ^@ NM_007294.3(BRCA1):c.5075-?_5193+?dup http://identifiers.org/clinvar/267623 ^@ NM_007294.3(BRCA1):c.81-?_441+?del http://identifiers.org/clinvar/267802 ^@ 46;XY;t(11;19)(p11.2;p13.3)dn http://identifiers.org/clinvar/267853 ^@ 46;XY;inv(10)(q11.2q24)dn http://identifiers.org/clinvar/267903 ^@ 46;XY;t(3;14)(p23;q13)dn http://identifiers.org/clinvar/267953 ^@ 46;XY;t(1;6)(p22;q15)dn http://identifiers.org/clinvar/268003 ^@ 46;XY;t(5;15)(q13.1;q13) http://identifiers.org/clinvar/268054 ^@ NM_021942.5(TRAPPC11):c.661-1G>T http://identifiers.org/clinvar/268119 ^@ NM_144772.2(NAXE):c.804_807delGAAGinsA (p.Lys270del) http://identifiers.org/clinvar/268187 ^@ NM_000271.4(NPC1):c.2728G>A (p.Gly910Ser) http://identifiers.org/clinvar/291614 ^@ NM_015074.3(KIF1B):c.*1999G>T http://identifiers.org/clinvar/291664 ^@ NM_015074.3(KIF1B):c.*4613G>A http://identifiers.org/clinvar/291764 ^@ NM_007375.3(TARDBP):c.*2331A>G http://identifiers.org/clinvar/291864 ^@ NM_013319.2(UBIAD1):c.867C>T (p.Thr289=) http://identifiers.org/clinvar/291714 ^@ NM_013296.4(GPSM2):c.*455C>T http://identifiers.org/clinvar/291914 ^@ NM_003051.3(SLC16A1):c.-208_-205delGACA http://identifiers.org/clinvar/291814 ^@ NM_006610.3(MASP2):c.81C>T (p.Phe27=) http://identifiers.org/clinvar/292014 ^@ NM_138959.2(VANGL1):c.*47G>T http://identifiers.org/clinvar/292064 ^@ NM_138959.2(VANGL1):c.*3336G>A http://identifiers.org/clinvar/291964 ^@ NM_002524.4(NRAS):c.*1382G>T http://identifiers.org/clinvar/292703 ^@ NM_006118.3(HAX1):c.137G>C (p.Arg46Pro) http://identifiers.org/clinvar/292853 ^@ NM_022367.3(SEMA4A):c.1694-13C>G http://identifiers.org/clinvar/292653 ^@ NM_152263.3(TPM3):c.*3558G>A http://identifiers.org/clinvar/292903 ^@ NM_007272.2(CTRC):c.25G>T (p.Ala9Ser) http://identifiers.org/clinvar/293053 ^@ NM_003126.2(SPTA1):c.444G>A (p.Leu148=) http://identifiers.org/clinvar/293103 ^@ NM_002241.4(KCNJ10):c.*1653T>C http://identifiers.org/clinvar/292953 ^@ NM_003126.2(SPTA1):c.6378G>T (p.Val2126=) http://identifiers.org/clinvar/293003 ^@ NM_003126.2(SPTA1):c.3108C>T (p.His1036=) http://identifiers.org/clinvar/293353 ^@ NM_003001.3(SDHC):c.*1693G>A http://identifiers.org/clinvar/293153 ^@ NM_000702.3(ATP1A2):c.*746C>T http://identifiers.org/clinvar/292603 ^@ NM_000449.3(RFX5):c.*373G>T http://identifiers.org/clinvar/293403 ^@ NM_004431.4(EPHA2):c.*213C>T http://identifiers.org/clinvar/293303 ^@ NM_000530.7(MPZ):c.*858T>C http://identifiers.org/clinvar/293603 ^@ NM_000130.4(F5):c.3851C>T (p.Thr1284Ile) http://identifiers.org/clinvar/292753 ^@ NM_001111.4(ADAR):c.*245T>C http://identifiers.org/clinvar/293853 ^@ NM_033343.3(LHX4):c.-172A>G http://identifiers.org/clinvar/292803 ^@ NM_000298.5(PKLR):c.*14C>T http://identifiers.org/clinvar/293203 ^@ NM_002857.3(PEX19):c.*1761C>A http://identifiers.org/clinvar/293903 ^@ NM_002065.6(GLUL):c.*1909_*1910insTCATTT http://identifiers.org/clinvar/294053 ^@ NM_005562.2(LAMC2):c.*1398C>T http://identifiers.org/clinvar/293253 ^@ NM_000309.3(PPOX):c.617-6C>T http://identifiers.org/clinvar/293453 ^@ NM_005149.2(TBX19):c.39T>G (p.Asp13Glu) http://identifiers.org/clinvar/293503 ^@ NM_005149.2(TBX19):c.*1251C>T http://identifiers.org/clinvar/294503 ^@ NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) http://identifiers.org/clinvar/293553 ^@ NM_000130.4(F5):c.*1118G>A http://identifiers.org/clinvar/293803 ^@ NM_022089.3(ATP13A2):c.396G>A (p.Ala132=) http://identifiers.org/clinvar/293653 ^@ NM_152281.2(GORAB):c.351C>T (p.Thr117=) http://identifiers.org/clinvar/293703 ^@ NM_000261.1(MYOC):c.*331A>G http://identifiers.org/clinvar/293753 ^@ NM_000639.2(FASLG):c.*606T>A http://identifiers.org/clinvar/336198 ^@ NM_000341.3(SLC3A1):c.1074C>T (p.His358=) http://identifiers.org/clinvar/335848 ^@ NM_014946.3(SPAST):c.*533T>G http://identifiers.org/clinvar/335898 ^@ NM_001011.3(RPS7):c.-27C>T http://identifiers.org/clinvar/344284 ^@ NM_181426.1(CCDC39):c.-110C>T http://identifiers.org/clinvar/344534 ^@ NM_000461.4(THRB):c.*5533G>A http://identifiers.org/clinvar/344634 ^@ NM_000461.4(THRB):c.*195C>T http://identifiers.org/clinvar/344684 ^@ NM_003242.5(TGFBR2):c.*835C>A http://identifiers.org/clinvar/344734 ^@ NM_015141.3(GPD1L):c.*244A>G http://identifiers.org/clinvar/344934 ^@ NM_001106.3(ACVR2B):c.*592C>T http://identifiers.org/clinvar/344134 ^@ NM_005025.4(SERPINI1):c.*172T>A http://identifiers.org/clinvar/345134 ^@ NM_017875.2(SLC25A38):c.-303A>C http://identifiers.org/clinvar/344184 ^@ NM_198407.2(GHSR):c.*1024G>C http://identifiers.org/clinvar/345184 ^@ NM_018075.4(ANO10):c.1339A>T (p.Met447Leu) http://identifiers.org/clinvar/344384 ^@ NM_003722.4(TP63):c.766+5G>A http://identifiers.org/clinvar/344784 ^@ NM_000404.3(GLB1):c.1715A>G (p.Gln572Arg) http://identifiers.org/clinvar/344984 ^@ NM_001106.3(ACVR2B):c.*3956A>G http://identifiers.org/clinvar/342295 ^@ NM_016247.3(IMPG2):c.*2332T>C http://identifiers.org/clinvar/342445 ^@ NM_000551.3(VHL):c.*1691A>G http://identifiers.org/clinvar/346723 ^@ NM_002942.4(ROBO2):c.*972T>C http://identifiers.org/clinvar/346773 ^@ NM_002942.4(ROBO2):c.*3894A>G http://identifiers.org/clinvar/342495 ^@ NM_000551.3(VHL):c.*3205C>T http://identifiers.org/clinvar/346823 ^@ NM_014043.3(CHMP2B):c.*1422G>A http://identifiers.org/clinvar/346923 ^@ NM_182896.2(ARL13B):c.*980A>G http://identifiers.org/clinvar/346973 ^@ NM_000097.5(CPOX):c.1266T>A (p.Pro422=) http://identifiers.org/clinvar/342645 ^@ NM_020754.3(ARHGAP31):c.1533A>G (p.Thr511=) http://identifiers.org/clinvar/342595 ^@ NM_000796.5(DRD3):c.1077C>T (p.His359=) http://identifiers.org/clinvar/342695 ^@ NM_020754.3(ARHGAP31):c.*1233A>G http://identifiers.org/clinvar/347323 ^@ NM_001148.4(ANK2):c.4953C>G (p.Pro1651=) http://identifiers.org/clinvar/342745 ^@ NM_000187.3(HGD):c.567C>G (p.Ser189Arg) http://identifiers.org/clinvar/347423 ^@ NM_016599.4(MYOZ2):c.*1262dupA http://identifiers.org/clinvar/342795 ^@ NM_000388.3(CASR):c.6A>C (p.Ala2=) http://identifiers.org/clinvar/343095 ^@ NM_002880.3(RAF1):c.*606A>G http://identifiers.org/clinvar/343045 ^@ NM_000373.3(UMPS):c.*5120_*5124delGAGTT http://identifiers.org/clinvar/343195 ^@ NM_014049.4(ACAD9):c.1062C>T (p.Tyr354=) http://identifiers.org/clinvar/347773 ^@ NM_005141.4(FGB):c.332A>G (p.Gln111Arg) http://identifiers.org/clinvar/343145 ^@ NM_032638.4(GATA2):c.-180C>A http://identifiers.org/clinvar/347923 ^@ NM_000824.4(GLRB):c.904+4A>T http://identifiers.org/clinvar/354150 ^@ NM_003719.3(PDE8B):c.400-7G>T http://identifiers.org/clinvar/354250 ^@ NM_003664.4(AP3B1):c.519A>G (p.Ala173=) http://identifiers.org/clinvar/354400 ^@ NM_004385.4(VCAN):c.1895C>T (p.Thr632Met) http://identifiers.org/clinvar/354200 ^@ NM_003719.3(PDE8B):c.*863_*865delAAG http://identifiers.org/clinvar/354600 ^@ NM_002397.4(MEF2C):c.-442delC http://identifiers.org/clinvar/362738 ^@ NM_001017420.2(ESCO2):c.1076A>C (p.Gln359Pro) http://identifiers.org/clinvar/359029 ^@ NM_020632.2(ATP6V0A4):c.512+4A>G http://identifiers.org/clinvar/359079 ^@ NM_018238.3(AGK):c.*1127C>A http://identifiers.org/clinvar/354850 ^@ NM_007214.4(SEC63):c.*2223G>A http://identifiers.org/clinvar/354950 ^@ NM_014028.3(OSTM1):c.*2138G>T http://identifiers.org/clinvar/354900 ^@ NM_007214.4(SEC63):c.1675-15G>C http://identifiers.org/clinvar/355050 ^@ NM_014845.5(FIG4):c.*7C>T http://identifiers.org/clinvar/359579 ^@ NM_001101426.3(ISPD):c.*151G>A http://identifiers.org/clinvar/355151 ^@ NM_002667.4(PLN):c.*1180A>G http://identifiers.org/clinvar/363538 ^@ NM_000370.3(TTPA):c.*1368C>G http://identifiers.org/clinvar/363588 ^@ NM_004820.4(CYP7B1):c.209T>A (p.Met70Lys) http://identifiers.org/clinvar/363688 ^@ NM_017866.5(TMEM70):c.-15C>G http://identifiers.org/clinvar/363738 ^@ NM_018972.2(GDAP1):c.*1162T>C http://identifiers.org/clinvar/355201 ^@ NM_006073.3(TRDN):c.*811G>A http://identifiers.org/clinvar/355551 ^@ NM_000416.2(IFNGR1):c.*71G>T http://identifiers.org/clinvar/355301 ^@ NM_000426.3(LAMA2):c.8223G>A (p.Thr2741=) http://identifiers.org/clinvar/363938 ^@ NM_153704.5(TMEM67):c.*1653G>A http://identifiers.org/clinvar/359929 ^@ NM_018947.5(CYCS):c.*1310G>C http://identifiers.org/clinvar/355451 ^@ NM_172105.3(EYA4):c.*737dupA http://identifiers.org/clinvar/355501 ^@ NM_017651.4(AHI1):c.2763T>C (p.His921=) http://identifiers.org/clinvar/360129 ^@ NM_133468.4(BMPER):c.*617G>A http://identifiers.org/clinvar/355801 ^@ NM_033071.3(SYNE1):c.*295T>C http://identifiers.org/clinvar/356001 ^@ NM_004562.2(PRKN):c.*1156C>G http://identifiers.org/clinvar/355851 ^@ NM_033071.3(SYNE1):c.17840A>G (p.Asn5947Ser) http://identifiers.org/clinvar/364977 ^@ NM_002316.3(LMX1B):c.*3731G>C http://identifiers.org/clinvar/365277 ^@ NM_007171.3(POMT1):c.1167C>T (p.Ser389=) http://identifiers.org/clinvar/365327 ^@ NM_015046.5(SETX):c.*666C>G http://identifiers.org/clinvar/365577 ^@ NM_014694.3(ADAMTSL2):c.441G>A (p.Pro147=) http://identifiers.org/clinvar/356990 ^@ NM_006502.2(POLH):c.*4271G>A http://identifiers.org/clinvar/356890 ^@ NM_006502.2(POLH):c.-219T>A http://identifiers.org/clinvar/366028 ^@ NM_024757.4(EHMT1):c.3258+14C>T http://identifiers.org/clinvar/357040 ^@ NM_020745.3(AARS2):c.*926C>T http://identifiers.org/clinvar/366178 ^@ NM_144966.5(FREM1):c.45G>T (p.Leu15=) http://identifiers.org/clinvar/303269 ^@ NM_022370.3(ROBO3):c.3320+12C>T http://identifiers.org/clinvar/303419 ^@ NM_016952.4(CDON):c.*2378_*2379insCACACA http://identifiers.org/clinvar/367496 ^@ NM_004560.3(ROR2):c.2314T>A (p.Ser772Thr) http://identifiers.org/clinvar/303519 ^@ NM_016952.4(CDON):c.1414C>G (p.Pro472Ala) http://identifiers.org/clinvar/311607 ^@ NM_018451.4(CENPJ):c.3943G>C (p.Glu1315Gln) http://identifiers.org/clinvar/367646 ^@ NM_000264.3(PTCH1):c.*1373G>C http://identifiers.org/clinvar/304019 ^@ NM_004211.4(SLC6A5):c.1277C>G (p.Ala426Gly) http://identifiers.org/clinvar/298681 ^@ NM_000494.3(COL17A1):c.4438+13T>C http://identifiers.org/clinvar/304269 ^@ NM_000218.2(KCNQ1):c.*975C>T http://identifiers.org/clinvar/367596 ^@ NM_000136.2(FANCC):c.*723_*726delAGTT http://identifiers.org/clinvar/298831 ^@ NM_001134363.2(RBM20):c.*1539G>A http://identifiers.org/clinvar/298531 ^@ NM_022039.3(FBXW4):c.972C>T (p.Ser324=) http://identifiers.org/clinvar/298581 ^@ NM_016169.3(SUFU):c.*391A>G http://identifiers.org/clinvar/304569 ^@ NM_207122.1(EXT2):c.-31+7G>T http://identifiers.org/clinvar/299131 ^@ NM_001609.3(ACADSB):c.*2329A>G http://identifiers.org/clinvar/299181 ^@ NM_000274.3(OAT):c.-94T>G http://identifiers.org/clinvar/299231 ^@ NM_021980.4(OPTN):c.*562T>G http://identifiers.org/clinvar/315506 ^@ NM_002420.5(TRPM1):c.2565C>G (p.Gly855=) http://identifiers.org/clinvar/315556 ^@ NM_133647.1(SLC12A6):c.*3097G>C http://identifiers.org/clinvar/315606 ^@ NM_133647.1(SLC12A6):c.*94G>C http://identifiers.org/clinvar/315656 ^@ NM_005159.4(ACTC1):c.*1502G>T http://identifiers.org/clinvar/315756 ^@ NM_152594.2(SPRED1):c.*1798A>C http://identifiers.org/clinvar/315806 ^@ NM_002225.3(IVD):c.*204T>G http://identifiers.org/clinvar/317746 ^@ NM_000246.3(CIITA):c.*735G>A http://identifiers.org/clinvar/329429 ^@ NM_152296.4(ATP1A3):c.270C>T (p.Phe90=) http://identifiers.org/clinvar/317846 ^@ NM_005236.2(ERCC4):c.*1774C>T http://identifiers.org/clinvar/309913 ^@ NM_005379.3(MYO1A):c.1453A>G (p.Lys485Glu) http://identifiers.org/clinvar/329479 ^@ NM_212550.4(BLOC1S3):c.*155_*156insAA http://identifiers.org/clinvar/329529 ^@ NM_000400.3(ERCC2):c.183+2T>A http://identifiers.org/clinvar/329579 ^@ NM_025136.3(OPA3):c.*5783G>A http://identifiers.org/clinvar/311357 ^@ NM_004004.5(GJB2):c.*1067G>T http://identifiers.org/clinvar/329679 ^@ NM_025136.3(OPA3):c.*322A>G http://identifiers.org/clinvar/318098 ^@ NM_001143979.1(NDE1):c.948-6833A>G http://identifiers.org/clinvar/311457 ^@ NM_002010.2(FGF9):c.*1471C>T http://identifiers.org/clinvar/311507 ^@ NM_014363.5(SACS):c.10967C>G (p.Pro3656Arg) http://identifiers.org/clinvar/310113 ^@ NM_001065.3(TNFRSF1A):c.-74G>A http://identifiers.org/clinvar/318248 ^@ NM_004970.2(IGFALS):c.917G>A (p.Arg306Gln) http://identifiers.org/clinvar/311657 ^@ NM_015972.3(POLR1D):c.*147A>G http://identifiers.org/clinvar/310263 ^@ NM_014319.4(LEMD3):c.*1901G>A http://identifiers.org/clinvar/330318 ^@ NM_000064.3(C3):c.1819A>G (p.Lys607Glu) http://identifiers.org/clinvar/330368 ^@ NM_000208.3(INSR):c.*3365C>A http://identifiers.org/clinvar/330418 ^@ NM_000208.3(INSR):c.*784C>G http://identifiers.org/clinvar/337915 ^@ NM_198994.2(TGM6):c.883G>A (p.Val295Met) http://identifiers.org/clinvar/337965 ^@ NM_014588.5(VSX1):c.391C>A (p.Arg131Ser) http://identifiers.org/clinvar/319988 ^@ NM_000078.2(CETP):c.1046C>A (p.Ser349Tyr) http://identifiers.org/clinvar/320038 ^@ NM_001297.4(CNGB1):c.*836C>T http://identifiers.org/clinvar/311707 ^@ NM_004795.3(KL):c.2779C>T (p.Leu927Phe) http://identifiers.org/clinvar/311757 ^@ NM_015087.4(SPG20):c.*624A>G http://identifiers.org/clinvar/311907 ^@ NM_001127217.2(SMAD9):c.15C>G (p.Thr5=) http://identifiers.org/clinvar/320738 ^@ NM_012213.2(MLYCD):c.1424A>G (p.Lys475Arg) http://identifiers.org/clinvar/320788 ^@ NM_001451.2(FOXF1):c.85G>T (p.Ala29Ser) http://identifiers.org/clinvar/321088 ^@ NM_020686.5(ABAT):c.1270-4A>G http://identifiers.org/clinvar/320888 ^@ NM_001127464.2(ZNF469):c.2652C>G (p.Pro884=) http://identifiers.org/clinvar/321238 ^@ NM_000303.2(PMM2):c.*410A>G http://identifiers.org/clinvar/339755 ^@ NM_000219.5(KCNE1):c.*995G>C http://identifiers.org/clinvar/321188 ^@ NM_000512.4(GALNS):c.1443C>T (p.Pro481=) http://identifiers.org/clinvar/321288 ^@ NM_003119.3(SPG7):c.2083C>T (p.Leu695=) http://identifiers.org/clinvar/339905 ^@ NM_144492.2(CLDN14):c.-580G>A http://identifiers.org/clinvar/340205 ^@ NM_130445.3(COL18A1):c.780G>C (p.Glu260Asp) http://identifiers.org/clinvar/340305 ^@ NM_001848.2(COL6A1):c.-76G>A http://identifiers.org/clinvar/326440 ^@ NM_177986.4(DSG4):c.1740A>G (p.Gln580=) http://identifiers.org/clinvar/326490 ^@ NM_001943.4(DSG2):c.3112A>G (p.Ile1038Val) http://identifiers.org/clinvar/328379 ^@ NM_000435.2(NOTCH3):c.5668-11C>T http://identifiers.org/clinvar/342245 ^@ NM_000487.5(ARSA):c.-142G>A http://identifiers.org/clinvar/326840 ^@ NM_144612.6(LOXHD1):c.4523G>A (p.Arg1508Lys) http://identifiers.org/clinvar/328629 ^@ NM_000095.2(COMP):c.165+9C>A http://identifiers.org/clinvar/367996 ^@ NM_001011658.3(TRAPPC2):c.-179G>C http://identifiers.org/clinvar/368046 ^@ NM_000033.3(ABCD1):c.696G>T (p.Ala232=) http://identifiers.org/clinvar/328979 ^@ NM_033064.4(ATCAY):c.-424delC http://identifiers.org/clinvar/368446 ^@ NM_007137.3(ZNF81):c.*5127G>C http://identifiers.org/clinvar/368596 ^@ NM_000032.4(ALAS2):c.1062C>G (p.Thr354=) http://identifiers.org/clinvar/327729 ^@ NM_003839.3(TNFRSF11A):c.421C>T (p.His141Tyr) http://identifiers.org/clinvar/327779 ^@ NM_005786.5(TSHZ1):c.-329_-328dupGG http://identifiers.org/clinvar/328229 ^@ NM_000455.4(STK11):c.8T>G (p.Val3Gly) http://identifiers.org/clinvar/328679 ^@ NM_001031726.3(C19orf12):c.*2691A>G http://identifiers.org/clinvar/328729 ^@ NM_001031726.3(C19orf12):c.*20G>A http://identifiers.org/clinvar/329229 ^@ NM_017827.3(SARS2):c.-106A>T http://identifiers.org/clinvar/329329 ^@ NM_003573.2(LTBP4):c.4259G>A (p.Gly1420Glu) http://identifiers.org/clinvar/338315 ^@ NM_000557.4(GDF5):c.*166G>A http://identifiers.org/clinvar/329379 ^@ NM_001022.3(RPS19):c.-339T>C http://identifiers.org/clinvar/329629 ^@ NM_025136.3(OPA3):c.*3212G>A http://identifiers.org/clinvar/339355 ^@ NM_025219.2(DNAJC5):c.-33G>A http://identifiers.org/clinvar/330218 ^@ NM_001256714.1(DNAAF3):c.670C>T (p.Leu224Phe) http://identifiers.org/clinvar/339455 ^@ NM_012469.3(PRPF6):c.-82C>T http://identifiers.org/clinvar/339555 ^@ NM_000933.3(PLCB4):c.504-6C>T http://identifiers.org/clinvar/339655 ^@ NM_000484.3(APP):c.-156G>C http://identifiers.org/clinvar/339805 ^@ NM_001754.4(RUNX1):c.*3574A>G http://identifiers.org/clinvar/339955 ^@ NM_000411.6(HLCS):c.*270dupT http://identifiers.org/clinvar/337865 ^@ NM_000361.2(THBD):c.*759A>T http://identifiers.org/clinvar/340055 ^@ NM_024022.2(TMPRSS3):c.*191T>C http://identifiers.org/clinvar/340105 ^@ NM_000394.3(CRYAA):c.*102T>C http://identifiers.org/clinvar/340255 ^@ NM_130445.3(COL18A1):c.2694G>A (p.Pro898=) http://identifiers.org/clinvar/340405 ^@ NM_006657.2(FTCD):c.*127C>A http://identifiers.org/clinvar/339505 ^@ NM_015192.3(PLCB1):c.1761A>G (p.Val587=) http://identifiers.org/clinvar/339605 ^@ NM_000933.3(PLCB4):c.*738G>A http://identifiers.org/clinvar/339705 ^@ NM_000628.4(IL10RB):c.*595_*596delTC http://identifiers.org/clinvar/339855 ^@ NM_001754.4(RUNX1):c.*730dupT http://identifiers.org/clinvar/340005 ^@ NM_020639.2(RIPK4):c.*142G>A http://identifiers.org/clinvar/385147 ^@ NM_020987.4(ANK3):c.3575T>A (p.Ile1192Asn) http://identifiers.org/clinvar/385197 ^@ NM_000093.4(COL5A1):c.4555-15T>A http://identifiers.org/clinvar/383706 ^@ NM_000136.2(FANCC):c.897-3C>T http://identifiers.org/clinvar/391635 ^@ NM_017617.4(NOTCH1):c.2136C>A (p.Thr712=) http://identifiers.org/clinvar/392285 ^@ NM_000051.3(ATM):c.6219C>T (p.Leu2073=) http://identifiers.org/clinvar/384357 ^@ NM_203447.3(DOCK8):c.870C>G (p.Leu290=) http://identifiers.org/clinvar/384997 ^@ NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) http://identifiers.org/clinvar/379209 ^@ NM_153033.4(KCTD7):c.48T>G (p.Gly16=) http://identifiers.org/clinvar/378010 ^@ NM_000218.2(KCNQ1):c.105C>A (p.Pro35=) http://identifiers.org/clinvar/382855 ^@ NM_000256.3(MYBPC3):c.2568G>A (p.Arg856=) http://identifiers.org/clinvar/378112 ^@ NM_000429.2(MAT1A):c.763C>T (p.Pro255Ser) http://identifiers.org/clinvar/377560 ^@ NM_004329.2(BMPR1A):c.-283G>A http://identifiers.org/clinvar/389086 ^@ NM_000051.3(ATM):c.8902T>C (p.Leu2968=) http://identifiers.org/clinvar/386847 ^@ NM_006231.3(POLE):c.2173+11G>A http://identifiers.org/clinvar/385947 ^@ NM_000051.3(ATM):c.5178-18T>C http://identifiers.org/clinvar/380210 ^@ NM_006231.3(POLE):c.755C>T (p.Ala252Val) http://identifiers.org/clinvar/386247 ^@ NM_018249.5(CDK5RAP2):c.3003G>A (p.Thr1001=) http://identifiers.org/clinvar/388386 ^@ NM_004408.3(DNM1):c.1987C>A (p.Arg663=) http://identifiers.org/clinvar/383656 ^@ NM_000719.6(CACNA1C):c.1482-15C>T http://identifiers.org/clinvar/377610 ^@ NM_000719.6(CACNA1C):c.4305C>T (p.Ser1435=) http://identifiers.org/clinvar/378262 ^@ NM_007103.3(NDUFV1):c.432G>C (p.Val144=) http://identifiers.org/clinvar/385247 ^@ NM_014191.3(SCN8A):c.195G>A (p.Leu65=) http://identifiers.org/clinvar/384307 ^@ NM_014254.2(TMEM5):c.294C>T (p.Leu98=) http://identifiers.org/clinvar/382254 ^@ NM_006231.3(POLE):c.6135C>T (p.Pro2045=) http://identifiers.org/clinvar/388536 ^@ NM_020822.2(KCNT1):c.3495C>A (p.Thr1165=) http://identifiers.org/clinvar/382555 ^@ NM_006231.3(POLE):c.1687-17T>C http://identifiers.org/clinvar/378062 ^@ NM_004985.4(KRAS):c.451-11A>G http://identifiers.org/clinvar/382304 ^@ NM_000153.3(GALC):c.60C>T (p.Ala20=) http://identifiers.org/clinvar/384257 ^@ NM_001080449.2(DNA2):c.1476T>C (p.Cys492=) http://identifiers.org/clinvar/391735 ^@ NM_000138.4(FBN1):c.6299C>T (p.Pro2100Leu) http://identifiers.org/clinvar/380110 ^@ NM_003276.2(TMPO):c.1942G>T (p.Val648Leu) http://identifiers.org/clinvar/377510 ^@ NM_000051.3(ATM):c.3126A>G (p.Leu1042=) http://identifiers.org/clinvar/392035 ^@ NM_000051.3(ATM):c.3285-16G>T http://identifiers.org/clinvar/379709 ^@ NM_000051.3(ATM):c.3993+12A>G http://identifiers.org/clinvar/378212 ^@ NM_000257.3(MYH7):c.2163-16A>T http://identifiers.org/clinvar/377760 ^@ NM_001909.4(CTSD):c.828-18C>T http://identifiers.org/clinvar/391785 ^@ NM_001376.4(DYNC1H1):c.11400G>A (p.Gln3800=) http://identifiers.org/clinvar/379559 ^@ NM_000548.4(TSC2):c.1889G>A (p.Gly630Asp) http://identifiers.org/clinvar/388586 ^@ NM_001482.2(GATM):c.105T>C (p.Thr35=) http://identifiers.org/clinvar/379960 ^@ NM_001160147.1(DDHD1):c.273C>T (p.Phe91=) http://identifiers.org/clinvar/385797 ^@ NM_000034.3(ALDOA):c.380-16C>A http://identifiers.org/clinvar/386297 ^@ NM_000137.2(FAH):c.706+9T>C http://identifiers.org/clinvar/380010 ^@ NM_015386.2(COG4):c.1710+17C>G http://identifiers.org/clinvar/377860 ^@ NM_000138.4(FBN1):c.2729-8C>G http://identifiers.org/clinvar/388436 ^@ NM_000548.4(TSC2):c.4321C>T (p.Pro1441Ser) http://identifiers.org/clinvar/47462 ^@ NM_133378.4(TTN):c.79641T>C (p.Tyr26547=) http://identifiers.org/clinvar/47512 ^@ NM_001256850.1(TTN):c.86678A>T (p.Asp28893Val) http://identifiers.org/clinvar/47562 ^@ NM_001256850.1(TTN):c.91175G>A (p.Arg30392His) http://identifiers.org/clinvar/47612 ^@ NM_001256850.1(TTN):c.94179G>C (p.Trp31393Cys) http://identifiers.org/clinvar/47662 ^@ NM_001256850.1(TTN):c.98765T>C (p.Val32922Ala) http://identifiers.org/clinvar/47712 ^@ NM_133378.4(TTN):c.99083C>T (p.Thr33028Ile) http://identifiers.org/clinvar/47762 ^@ NM_133379.4(TTN):c.13814T>C (p.Ile4605Thr) http://identifiers.org/clinvar/47812 ^@ NM_001256850.1(TTN):c.10768C>G (p.Leu3590Val) http://identifiers.org/clinvar/47862 ^@ NM_138691.2(TMC1):c.1602C>G (p.Thr534=) http://identifiers.org/clinvar/47912 ^@ NM_144573.3(NEXN):c.777A>G (p.Gln259=) http://identifiers.org/clinvar/47962 ^@ NM_147196.2(TMIE):c.391_393delAAG (p.Lys131del) http://identifiers.org/clinvar/48014 ^@ NM_005709.3(USH1C):c.381G>T (p.Gly127=) http://identifiers.org/clinvar/48064 ^@ NM_170707.3(LMNA):c.356G>C (p.Arg119Pro) http://identifiers.org/clinvar/48114 ^@ NM_000337.5(SGCD):c.-94C>G http://identifiers.org/clinvar/48164 ^@ NM_194248.2(OTOF):c.1116C>T (p.Tyr372=) http://identifiers.org/clinvar/48214 ^@ NM_194248.2(OTOF):c.3156C>T (p.Phe1052=) http://identifiers.org/clinvar/48264 ^@ NM_194248.2(OTOF):c.5575_5576delAA (p.Lys1859Aspfs) http://identifiers.org/clinvar/48314 ^@ NM_198056.2(SCN5A):c.5949C>T (p.Ala1983=) http://identifiers.org/clinvar/48365 ^@ NM_206933.2(USH2A):c.11048-1G>A http://identifiers.org/clinvar/48415 ^@ NM_206933.2(USH2A):c.13297G>T (p.Val4433Leu) http://identifiers.org/clinvar/48465 ^@ NM_206933.2(USH2A):c.15496A>G (p.Ile5166Val) http://identifiers.org/clinvar/12 ^@ NM_000410.3(HFE):c.314T>C (p.Ile105Thr) http://identifiers.org/clinvar/220 ^@ NM_000027.3(AGA):c.904G>A (p.Gly302Arg) http://identifiers.org/clinvar/275 ^@ NM_000934.3(SERPINF2):c.526_528delGAA (p.Glu176del) http://identifiers.org/clinvar/284 ^@ NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr) http://identifiers.org/clinvar/354 ^@ NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) http://identifiers.org/clinvar/719 ^@ NM_001109809.2(ZFP57):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/952 ^@ NM_000275.2(OCA2):c.647_807del161 (p.Ser216Cysfs) http://identifiers.org/clinvar/1056 ^@ NM_001040436.2(YARS2):c.156C>G (p.Phe52Leu) http://identifiers.org/clinvar/1065 ^@ NM_018122.4(DARS2):c.1273G>T (p.Glu425Ter) http://identifiers.org/clinvar/1154 ^@ NM_001166686.1(PFKM):c.329G>C (p.Arg110Pro) http://identifiers.org/clinvar/1244 ^@ PALB2:c.49-?_2586+?del http://identifiers.org/clinvar/1295 ^@ ZNF750, 2-BP DUP, 56CC http://identifiers.org/clinvar/1793 ^@ NM_000102.3(CYP17A1):c.347A>T (p.Asp116Val) http://identifiers.org/clinvar/1838 ^@ MRAP, IVS3, G-A, +1 http://identifiers.org/clinvar/1883 ^@ MUT, 2-BP DEL, 769CA http://identifiers.org/clinvar/1928 ^@ NM_022132.4(MCCC2):c.1574+1G>A http://identifiers.org/clinvar/1973 ^@ NM_000022.2(ADA):c.22G>A (p.Asp8Asn) http://identifiers.org/clinvar/2017 ^@ SLC6A19, IVS8, T-G, +2 http://identifiers.org/clinvar/2062 ^@ NM_001002255.1(SUMO4):c.163G>A (p.Val55Met) http://identifiers.org/clinvar/2108 ^@ NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly) http://identifiers.org/clinvar/2153 ^@ NM_017929.5(PEX26):c.265G>A (p.Gly89Arg) http://identifiers.org/clinvar/2245 ^@ NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del) http://identifiers.org/clinvar/2290 ^@ NM_015046.5(SETX):c.8C>T (p.Thr3Ile) http://identifiers.org/clinvar/2336 ^@ NM_130468.3(CHST14):c.145delG (p.Val49Terfs) http://identifiers.org/clinvar/2382 ^@ NM_000709.3(BCKDHA):c.792C>G (p.Cys264Trp) http://identifiers.org/clinvar/2427 ^@ NM_153006.2(NAGS):c.1025delG (p.Arg342Profs) http://identifiers.org/clinvar/2472 ^@ NM_207122.1(EXT2):c.514C>T (p.Gln172Ter) http://identifiers.org/clinvar/2518 ^@ SOX9, 1-BP INS, 1103A http://identifiers.org/clinvar/2566 ^@ NM_006493.2(CLN5):c.835G>A (p.Asp279Asn) http://identifiers.org/clinvar/2611 ^@ ASPA, 1-BP DEL, 32T http://identifiers.org/clinvar/2658 ^@ NM_198428.2(BBS9):c.2045dupC (p.Arg683Lysfs) http://identifiers.org/clinvar/2703 ^@ NM_021098.2(CACNA1H):c.2491G>A (p.Val831Met) http://identifiers.org/clinvar/2795 ^@ NM_032520.4(GNPTG):c.611delG (p.Gly204Alafs) http://identifiers.org/clinvar/2886 ^@ NM_032531.3(KIRREL3):c.118C>T (p.Arg40Trp) http://identifiers.org/clinvar/2930 ^@ NM_013246.2(CLCF1):c.321C>A (p.Tyr107Ter) http://identifiers.org/clinvar/2976 ^@ NM_000271.4(NPC1):c.2932C>T (p.Arg978Cys) http://identifiers.org/clinvar/3020 ^@ NM_000051.3(ATM):c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) http://identifiers.org/clinvar/3070 ^@ NM_000487.5(ARSA):c.641C>T (p.Ala214Val) http://identifiers.org/clinvar/3118 ^@ NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) http://identifiers.org/clinvar/10143 ^@ NM_000132.3(F8):c.1075_1078delAATG (p.Asn359Lysfs) http://identifiers.org/clinvar/10189 ^@ NM_000132.3(F8):c.854T>G (p.Val285Gly) http://identifiers.org/clinvar/10233 ^@ NM_000132.3(F8):c.1808G>T (p.Ser603Ile) http://identifiers.org/clinvar/10279 ^@ NM_000132.3(F8):c.5443C>T (p.Gln1815Ter) http://identifiers.org/clinvar/10323 ^@ F8, 3-BP DEL, PRO220 DEL http://identifiers.org/clinvar/10370 ^@ NM_000402.4(G6PD):c.1268G>A (p.Arg423His) http://identifiers.org/clinvar/10420 ^@ G6PD ZURICH http://identifiers.org/clinvar/10469 ^@ NM_000032.4(ALAS2):c.1163C>G (p.Thr388Ser) http://identifiers.org/clinvar/10514 ^@ GPR143, 2-BP INS, NT992 http://identifiers.org/clinvar/10604 ^@ NM_000133.3(F9):c.917A>G (p.Asn306Ser) http://identifiers.org/clinvar/10696 ^@ NM_000266.3(NDP):c.288C>G (p.Cys96Trp) http://identifiers.org/clinvar/10740 ^@ NM_000169.2(GLA):c.983G>C (p.Gly328Ala) http://identifiers.org/clinvar/10786 ^@ NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg) http://identifiers.org/clinvar/10830 ^@ NM_004463.2(FGD1):c.1223G>A (p.Arg408Gln) http://identifiers.org/clinvar/10876 ^@ NM_000284.3(PDHA1):c.1073_1092del20 (p.Glu358Glyfs) http://identifiers.org/clinvar/10921 ^@ NM_000397.3(CYBB):c.1166G>C (p.Gly389Ala) http://identifiers.org/clinvar/10967 ^@ NR0B1, 4-BP DEL, NT1464 http://identifiers.org/clinvar/11011 ^@ NM_000531.5(OTC):c.444G>C (p.Leu148Phe) http://identifiers.org/clinvar/11057 ^@ NM_000252.2(MTM1):c.141_144delAGAA (p.Glu48Leufs) http://identifiers.org/clinvar/11101 ^@ NM_000116.4(TAZ):c.153C>G (p.Tyr51Ter) http://identifiers.org/clinvar/11147 ^@ CHM, EXON C, DS, INS T http://identifiers.org/clinvar/11193 ^@ NM_139058.2(ARX):c.1117C>T (p.Gln373Ter) http://identifiers.org/clinvar/11238 ^@ DMD, 2-BP DEL, 382AG http://identifiers.org/clinvar/11283 ^@ NM_004006.2(DMD):c.3940C>T (p.Arg1314Ter) http://identifiers.org/clinvar/11328 ^@ TBX22, IVS6, G-C, +1 http://identifiers.org/clinvar/11374 ^@ NM_000061.2(BTK):c.1275C>A (p.Tyr425Ter) http://identifiers.org/clinvar/11432 ^@ ARHGEF6, IVS1AS, T-C, -11 http://identifiers.org/clinvar/11483 ^@ NM_006579.2(EBP):c.87G>A (p.Trp29Ter) http://identifiers.org/clinvar/11534 ^@ NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) http://identifiers.org/clinvar/11584 ^@ NM_001363.4(DKC1):c.119C>G (p.Pro40Arg) http://identifiers.org/clinvar/11634 ^@ NM_006517.4(SLC16A2):c.449C>T (p.Ala150Val) http://identifiers.org/clinvar/11685 ^@ NM_004484.3(GPC3):c.194_206delGTCTCCCTAAGGG (p.Cys65Serfs) http://identifiers.org/clinvar/11735 ^@ NM_000489.4(ATRX):c.736C>T (p.Arg246Cys) http://identifiers.org/clinvar/11787 ^@ ATP7A, 1-BP DEL, 4497G http://identifiers.org/clinvar/11837 ^@ MECP2, 5-BP DUP, EX1 http://identifiers.org/clinvar/11887 ^@ NM_001061.4(TBXAS1):c.248T>C (p.Leu83Pro) http://identifiers.org/clinvar/11937 ^@ NM_183050.3(BCKDHB):c.548G>C (p.Arg183Pro) http://identifiers.org/clinvar/11988 ^@ NM_000170.2(GLDC):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/12039 ^@ FANCD2, 376A-G http://identifiers.org/clinvar/12089 ^@ F7, GLY354CYS http://identifiers.org/clinvar/12550 ^@ NM_001128177.1(THRB):c.1357C>A (p.Pro453Thr) http://identifiers.org/clinvar/12601 ^@ NM_005343.3(HRAS):c.181C>A (p.Gln61Lys) http://identifiers.org/clinvar/12893 ^@ NM_006920.4(SCN1A):c.4432C>A (p.Gln1478Lys) http://identifiers.org/clinvar/13350 ^@ NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser) http://identifiers.org/clinvar/13404 ^@ NM_000311.4(PRNP):c.314C>T (p.Pro105Leu) http://identifiers.org/clinvar/13455 ^@ NM_000371.3(TTR):c.118G>A (p.Val40Ile) http://identifiers.org/clinvar/13506 ^@ NM_002693.2(POLG):c.2591A>G (p.Asn864Ser) http://identifiers.org/clinvar/13556 ^@ NM_000212.2(ITGB3):c.2332T>C (p.Ser778Pro) http://identifiers.org/clinvar/37463 ^@ NM_007294.3(BRCA1):c.2329T>G (p.Tyr777Asp) http://identifiers.org/clinvar/37521 ^@ NM_007294.3(BRCA1):c.329delA (p.Lys110Argfs) http://identifiers.org/clinvar/37573 ^@ NM_007294.3(BRCA1):c.4181C>T (p.Thr1394Ile) http://identifiers.org/clinvar/37626 ^@ NM_007294.3(BRCA1):c.5068A>T (p.Lys1690Ter) http://identifiers.org/clinvar/37680 ^@ NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys) http://identifiers.org/clinvar/37734 ^@ NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) http://identifiers.org/clinvar/37786 ^@ NM_000059.3(BRCA2):c.2426T>G (p.Leu809Ter) http://identifiers.org/clinvar/37839 ^@ NM_000059.3(BRCA2):c.3422C>T (p.Thr1141Ile) http://identifiers.org/clinvar/37891 ^@ NM_000059.3(BRCA2):c.4276dupA (p.Thr1426Asnfs) http://identifiers.org/clinvar/37944 ^@ NM_000059.3(BRCA2):c.5080A>T (p.Arg1694Ter) http://identifiers.org/clinvar/37997 ^@ NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) http://identifiers.org/clinvar/38049 ^@ NM_000059.3(BRCA2):c.6503G>A (p.Gly2168Glu) http://identifiers.org/clinvar/38102 ^@ NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) http://identifiers.org/clinvar/38152 ^@ NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) http://identifiers.org/clinvar/38202 ^@ NM_000059.3(BRCA2):c.9016T>G (p.Tyr3006Asp) http://identifiers.org/clinvar/38252 ^@ NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) http://identifiers.org/clinvar/38314 ^@ NM_000168.5(GLI3):c.2351_2355delAACAA (p.Lys784Serfs) http://identifiers.org/clinvar/38370 ^@ NM_004211.4(SLC6A5):c.1444T>C (p.Trp482Arg) http://identifiers.org/clinvar/38426 ^@ NM_024312.4(GNPTAB):c.3434+1G>A http://identifiers.org/clinvar/38574 ^@ NM_000060.4(BTD):c.192G>C (p.Glu64Asp) http://identifiers.org/clinvar/38754 ^@ NM_000495.4(COL4A5):c.1135C>T (p.Gln379Ter) http://identifiers.org/clinvar/38866 ^@ NM_000282.3(PCCA):c.1685C>G (p.Ser562Ter) http://identifiers.org/clinvar/38928 ^@ NM_001099274.1(TINF2):c.892delC (p.Gln298Argfs) http://identifiers.org/clinvar/38979 ^@ NM_004614.4(TK2):c.191C>T (p.Thr64Met) http://identifiers.org/clinvar/39030 ^@ NM_024312.4(GNPTAB):c.1331dupG (p.Ser445Phefs) http://identifiers.org/clinvar/39080 ^@ NM_032520.4(GNPTG):c.445delG (p.Ala149Profs) http://identifiers.org/clinvar/39137 ^@ NM_198578.3(LRRK2):c.1561A>G (p.Arg521Gly) http://identifiers.org/clinvar/39187 ^@ NM_198578.3(LRRK2):c.4348G>A (p.Val1450Ile) http://identifiers.org/clinvar/40519 ^@ NM_002834.4(PTPN11):c.768_770dupACA (p.Gln257_Glu258insGln) http://identifiers.org/clinvar/40578 ^@ NM_002880.3(RAF1):c.-27+7G>A http://identifiers.org/clinvar/41118 ^@ NM_003611.2(OFD1):c.411delA (p.Gly138Valfs) http://identifiers.org/clinvar/41171 ^@ NM_003977.3(AIP):c.280-1G>A http://identifiers.org/clinvar/41224 ^@ NM_004629.1(FANCG):c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs) http://identifiers.org/clinvar/51234 ^@ NM_000059.3(BRCA2):c.198A>G (p.Gln66=) http://identifiers.org/clinvar/51285 ^@ NM_000059.3(BRCA2):c.2441C>T (p.Pro814Leu) http://identifiers.org/clinvar/51336 ^@ NM_000059.3(BRCA2):c.2748T>A (p.Cys916Ter) http://identifiers.org/clinvar/51386 ^@ NM_000059.3(BRCA2):c.3014_3015dupTT (p.Gly1006Leufs) http://identifiers.org/clinvar/51436 ^@ NM_000059.3(BRCA2):c.3264_3265insTT (p.Gln1089Phefs) http://identifiers.org/clinvar/51488 ^@ NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) http://identifiers.org/clinvar/51539 ^@ NM_000059.3(BRCA2):c.3847delG (p.Val1283Terfs) http://identifiers.org/clinvar/54203 ^@ NM_007294.3(BRCA1):c.1333G>C (p.Glu445Gln) http://identifiers.org/clinvar/54253 ^@ NM_007294.3(BRCA1):c.1444delA (p.Ile482Leufs) http://identifiers.org/clinvar/54304 ^@ NM_007294.3(BRCA1):c.1601A>G (p.Gln534Arg) http://identifiers.org/clinvar/55149 ^@ NM_007294.3(BRCA1):c.4240dupC (p.Leu1414Profs) http://identifiers.org/clinvar/55200 ^@ NM_007294.3(BRCA1):c.4447delA (p.Ser1483Valfs) http://identifiers.org/clinvar/55250 ^@ NM_007294.3(BRCA1):c.4646_4665del20 (p.Glu1549Alafs) http://identifiers.org/clinvar/55301 ^@ NM_007294.3(BRCA1):c.4840C>T (p.Pro1614Ser) http://identifiers.org/clinvar/55351 ^@ NM_007294.3(BRCA1):c.4996T>C (p.Tyr1666His) http://identifiers.org/clinvar/55401 ^@ NM_007294.3(BRCA1):c.5102_5103delTG (p.Leu1701Glnfs) http://identifiers.org/clinvar/55451 ^@ NM_007294.3(BRCA1):c.5194-12G>A http://identifiers.org/clinvar/55503 ^@ NM_007294.3(BRCA1):c.5278-2A>T http://identifiers.org/clinvar/55554 ^@ NM_007294.3(BRCA1):c.5369_5385del17 (p.Ser1790Phefs) http://identifiers.org/clinvar/55604 ^@ NM_007294.3(BRCA1):c.5504G>A (p.Arg1835Gln) http://identifiers.org/clinvar/55655 ^@ NM_007294.3(BRCA1):c.655G>A (p.Asp219Asn) http://identifiers.org/clinvar/55707 ^@ NM_007294.3(BRCA1):c.794_795delCT (p.Ser265Cysfs) http://identifiers.org/clinvar/55758 ^@ NM_007294.3(BRCA1):c.928C>T (p.Gln310Ter) http://identifiers.org/clinvar/55830 ^@ NC_000001.10:g.(155160963_155162030)insC http://identifiers.org/clinvar/55907 ^@ NM_007259.4(VPS45):c.712G>A (p.Glu238Lys) http://identifiers.org/clinvar/55966 ^@ NM_000111.2(SLC26A3):c.1306C>T (p.Gln436Ter) http://identifiers.org/clinvar/56019 ^@ NM_000112.3(SLC26A2):c.1983delA (p.Ala662Glnfs) http://identifiers.org/clinvar/56070 ^@ NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) http://identifiers.org/clinvar/56123 ^@ NM_000274.3(OAT):c.362G>A (p.Gly121Asp) http://identifiers.org/clinvar/56175 ^@ NM_000310.3(PPT1):c.117T>A (p.His39Gln) http://identifiers.org/clinvar/56225 ^@ NM_000481.3(AMT):c.-55C>T http://identifiers.org/clinvar/56276 ^@ NM_001042432.1(CLN3):c.49G>T (p.Glu17Ter) http://identifiers.org/clinvar/56328 ^@ NM_001081.3(CUBN):c.2515_2533del19 (p.Glu839Profs) http://identifiers.org/clinvar/56378 ^@ NM_001126105.2(SLC7A7):c.782T>C (p.Leu261Pro) http://identifiers.org/clinvar/56430 ^@ NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) http://identifiers.org/clinvar/56480 ^@ NM_004646.3(NPHS1):c.2548_2557delGCTGCAGCTG (p.Ala850Glufs) http://identifiers.org/clinvar/56530 ^@ NM_006493.2(CLN5):c.1137G>T (p.Trp379Cys) http://identifiers.org/clinvar/56583 ^@ NM_017739.3(POMGNT1):c.1539+1G>T http://identifiers.org/clinvar/57305 ^@ GRCh38/hg38 10q26.3(chr10:133503306-133591019)x3 http://identifiers.org/clinvar/57358 ^@ GRCh38/hg38 17p13.3(chr17:847955-1589181)x3 http://identifiers.org/clinvar/242646 ^@ NM_000090.3(COL3A1):c.[=/3426_3452del27] (p.Gly1143_Asp1151del) http://identifiers.org/clinvar/101476 ^@ NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) http://identifiers.org/clinvar/102754 ^@ NM_000277.1(PAH):c.608G>A (p.Cys203Tyr) http://identifiers.org/clinvar/102855 ^@ NM_000277.1(PAH):c.824C>T (p.Pro275Leu) http://identifiers.org/clinvar/102907 ^@ NM_000277.1(PAH):c.941C>A (p.Pro314His) http://identifiers.org/clinvar/102965 ^@ NM_178844.3(NLRC3):c.-558C>A http://identifiers.org/clinvar/103015 ^@ NM_001033053.2(NLRP1):c.1916A>T (p.Asp639Val) http://identifiers.org/clinvar/103065 ^@ NM_001174081.2(NLRP2):c.3050+257C>T http://identifiers.org/clinvar/103115 ^@ NM_022162.2(NOD2):c.-91G>C http://identifiers.org/clinvar/103165 ^@ NM_032206.4(NLRC5):c.2712-34C>T http://identifiers.org/clinvar/103215 ^@ NM_134444.4(NLRP4):c.-275T>G http://identifiers.org/clinvar/103265 ^@ NM_145007.3(NLRP11):c.-194-7C>T http://identifiers.org/clinvar/103315 ^@ NM_176810.2(NLRP13):c.2958G>A (p.Gly986=) http://identifiers.org/clinvar/103365 ^@ NM_178844.3(NLRC3):c.2100-49C>A http://identifiers.org/clinvar/111239 ^@ NM_005534.3(IFNGR2):c.413-197T>C http://identifiers.org/clinvar/120174 ^@ NM_000767.4(CYP2B6):c.548T>G (p.Val183Gly) http://identifiers.org/clinvar/120251 ^@ NM_144670.5(A2ML1):c.1109T>C (p.Phe370Ser) http://identifiers.org/clinvar/120301 ^@ NM_001282227.1(ADA2):c.14G>C (p.Gly5Ala) http://identifiers.org/clinvar/125528 ^@ NM_007294.3(BRCA1):c.1893_1894insT (p.Ser632Terfs) http://identifiers.org/clinvar/125613 ^@ NM_007294.3(BRCA1):c.3194_3195insG (p.Asp1065Glufs) http://identifiers.org/clinvar/125681 ^@ NM_007294.3(BRCA1):c.4128_4129delAA (p.Ser1377Argfs) http://identifiers.org/clinvar/125745 ^@ U14680.1:n.5106-581_del1014 http://identifiers.org/clinvar/125822 ^@ U14680.1:n.5430_5452del23 http://identifiers.org/clinvar/125883 ^@ NM_007294.3(BRCA1):c.548-12G>A http://identifiers.org/clinvar/125948 ^@ NM_000059.3(BRCA2):c.1542dupG (p.Thr515Aspfs) http://identifiers.org/clinvar/126010 ^@ NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) http://identifiers.org/clinvar/126080 ^@ NM_000059.3(BRCA2):c.5848G>A (p.Val1950Ile) http://identifiers.org/clinvar/126146 ^@ U43746.1:n.7829+2T>G http://identifiers.org/clinvar/126205 ^@ NM_000059.3(BRCA2):c.9256+16G>C http://identifiers.org/clinvar/126264 ^@ NM_025114.3(CEP290):c.5709+25A>C http://identifiers.org/clinvar/126315 ^@ NM_020732.3(ARID1B):c.1375G>A (p.Ala459Thr) http://identifiers.org/clinvar/126365 ^@ NM_001128849.1(SMARCA4):c.4983T>C (p.Asp1661=) http://identifiers.org/clinvar/126422 ^@ NM_018297.3(NGLY1):c.1370dupG (p.Arg458Lysfs) http://identifiers.org/clinvar/126928 ^@ NM_001127464.2(ZNF469):c.6095C>A (p.Ser2032Tyr) http://identifiers.org/clinvar/126978 ^@ NM_000251.2(MSH2):c.1387-265A>G http://identifiers.org/clinvar/127028 ^@ NM_005591.3(MRE11):c.1784-116C>G http://identifiers.org/clinvar/127080 ^@ NM_000356.3(TCOF1):c.1406_1409delAGAG (p.Glu469Alafs) http://identifiers.org/clinvar/127149 ^@ NM_005861.3(STUB1):c.235G>A (p.Ala79Thr) http://identifiers.org/clinvar/127251 ^@ NM_001127255.1(NLRP7):c.*374G>A http://identifiers.org/clinvar/127302 ^@ NM_000038.5(APC):c.5026A>G (p.Arg1676Gly) http://identifiers.org/clinvar/127352 ^@ NM_000051.3(ATM):c.2539A>G (p.Met847Val) http://identifiers.org/clinvar/127402 ^@ NM_000051.3(ATM):c.5189G>A (p.Arg1730Gln) http://identifiers.org/clinvar/127452 ^@ NM_000051.3(ATM):c.7928-10T>C http://identifiers.org/clinvar/127503 ^@ NM_000057.3(BLM):c.368A>G (p.Gln123Arg) http://identifiers.org/clinvar/127553 ^@ NM_000179.2(MSH6):c.1051C>T (p.His351Tyr) http://identifiers.org/clinvar/127603 ^@ NM_000179.2(MSH6):c.644T>G (p.Val215Gly) http://identifiers.org/clinvar/127654 ^@ NM_000251.2(MSH2):c.845A>G (p.Asp282Gly) http://identifiers.org/clinvar/127713 ^@ NM_000465.3(BARD1):c.1217G>A (p.Arg406Gln) http://identifiers.org/clinvar/127763 ^@ NM_000535.6(PMS2):c.1567T>A (p.Ser523Thr) http://identifiers.org/clinvar/127814 ^@ NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) http://identifiers.org/clinvar/160783 ^@ GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 http://identifiers.org/clinvar/160833 ^@ GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 http://identifiers.org/clinvar/160886 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 http://identifiers.org/clinvar/160938 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 http://identifiers.org/clinvar/160988 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/161039 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 http://identifiers.org/clinvar/161089 ^@ GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 http://identifiers.org/clinvar/161139 ^@ NM_152296.4(ATP1A3):c.2318A>T (p.Asn773Ile) http://identifiers.org/clinvar/161321 ^@ NM_000257.3(MYH7):c.5536C>T (p.Arg1846Cys) http://identifiers.org/clinvar/161271 ^@ NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) http://identifiers.org/clinvar/161371 ^@ NM_000540.2(RYR1):c.4400A>G (p.Lys1467Arg) http://identifiers.org/clinvar/161221 ^@ NM_000109.3(DMD):c.1294G>A (p.Glu432Lys) http://identifiers.org/clinvar/161435 ^@ NM_000823.3(GHRHR):c.418T>C (p.Ser140Pro) http://identifiers.org/clinvar/161540 ^@ NM_001160233.1(ATP1A1):c.464C>T (p.Ser155Leu) http://identifiers.org/clinvar/161640 ^@ NM_005732.3(RAD50):c.1513A>G (p.Ile505Val) http://identifiers.org/clinvar/161740 ^@ NM_020886.3(USP28):c.571C>T (p.Leu191Phe) http://identifiers.org/clinvar/161690 ^@ NM_015057.4(MYCBP2):c.7770G>A (p.Met2590Ile) http://identifiers.org/clinvar/161840 ^@ NM_178586.2(PPP2R5C):c.715C>G (p.Leu239Val) http://identifiers.org/clinvar/161790 ^@ NM_052873.2(IFT43):c.21G>T (p.Leu7Phe) http://identifiers.org/clinvar/161590 ^@ NM_002126.4(HLF):c.436dupA (p.Ser146Lysfs) http://identifiers.org/clinvar/161490 ^@ NM_001009924.1(TMEM230):c.152T>C (p.Val51Ala) http://identifiers.org/clinvar/162011 ^@ NC_000014.9:g.100806482_101281031del474550 http://identifiers.org/clinvar/163642 ^@ NM_013296.4(GPSM2):c.1820C>T (p.Ser607Phe) http://identifiers.org/clinvar/177636 ^@ NM_001001430.2(TNNT2):c.860G>A (p.Trp287Ter) http://identifiers.org/clinvar/165538 ^@ NM_000364.3(TNNT2):c.710+13A>C http://identifiers.org/clinvar/165123 ^@ NM_001035.2(RYR2):c.11457G>A (p.Met3819Ile) http://identifiers.org/clinvar/163534 ^@ NM_024009.2(GJB3):c.546C>T (p.Thr182=) http://identifiers.org/clinvar/166499 ^@ NM_206933.2(USH2A):c.5039A>G (p.Lys1680Arg) http://identifiers.org/clinvar/179648 ^@ NM_133378.4(TTN):c.96557C>T (p.Ala32186Val) http://identifiers.org/clinvar/179998 ^@ NM_206933.2(USH2A):c.8265T>C (p.Leu2755=) http://identifiers.org/clinvar/165847 ^@ NM_133378.4(TTN):c.64598C>A (p.Thr21533Asn) http://identifiers.org/clinvar/180098 ^@ NM_001256850.1(TTN):c.52339G>T (p.Val17447Phe) http://identifiers.org/clinvar/178190 ^@ NM_133378.4(TTN):c.66627C>T (p.Asp22209=) http://identifiers.org/clinvar/178998 ^@ NM_133378.4(TTN):c.61058C>T (p.Thr20353Ile) http://identifiers.org/clinvar/165946 ^@ NM_133378.4(TTN):c.50522G>A (p.Arg16841His) http://identifiers.org/clinvar/164797 ^@ NM_144573.3(NEXN):c.1887A>G (p.Gln629=) http://identifiers.org/clinvar/165660 ^@ NM_133378.4(TTN):c.93351T>C (p.Asp31117=) http://identifiers.org/clinvar/179448 ^@ NM_133378.4(TTN):c.76747C>A (p.Pro25583Thr) http://identifiers.org/clinvar/179048 ^@ NM_001256850.1(TTN):c.42844G>A (p.Gly14282Arg) http://identifiers.org/clinvar/178240 ^@ NM_001256850.1(TTN):c.21289+7A>C http://identifiers.org/clinvar/179498 ^@ NM_133432.3(TTN):c.12364A>C (p.Lys4122Gln) http://identifiers.org/clinvar/163159 ^@ NM_001369.2(DNAH5):c.71G>A (p.Gly24Glu) http://identifiers.org/clinvar/178340 ^@ NM_005219.4(DIAPH1):c.3050T>C (p.Met1017Thr) http://identifiers.org/clinvar/177838 ^@ NM_002880.3(RAF1):c.-209G>A http://identifiers.org/clinvar/178140 ^@ NM_024334.2(TMEM43):c.484G>A (p.Asp162Asn) http://identifiers.org/clinvar/162856 ^@ NM_178335.2(CCDC50):c.749A>G (p.Glu250Gly) http://identifiers.org/clinvar/166586 ^@ NM_006005.3(WFS1):c.1294C>T (p.Leu432=) http://identifiers.org/clinvar/163109 ^@ NM_001277115.1(DNAH11):c.7570T>C (p.Leu2524=) http://identifiers.org/clinvar/163375 ^@ NM_005228.4(EGFR):c.2311_2312insGTT (p.Asn771delinsSerTyr) http://identifiers.org/clinvar/165270 ^@ NM_206883.2(SLC26A5):c.1335T>C (p.Ile445=) http://identifiers.org/clinvar/198435 ^@ NM_000751.2(CHRND):c.805T>C (p.Tyr269His) http://identifiers.org/clinvar/198486 ^@ NM_002863.4(PYGL):c.848A>T (p.Asn283Ile) http://identifiers.org/clinvar/198540 ^@ NM_001042537.1(SLC9A6):c.981C>G (p.Phe327Leu) http://identifiers.org/clinvar/198592 ^@ NM_024698.5(SLC25A22):c.579G>A (p.Thr193=) http://identifiers.org/clinvar/198643 ^@ NM_001267550.2(TTN):c.21204T>C (p.Ala7068=) http://identifiers.org/clinvar/198694 ^@ NM_000199.3(SGSH):c.1027dupC (p.Leu343Profs) http://identifiers.org/clinvar/198749 ^@ NM_000751.2(CHRND):c.862C>G (p.Gln288Glu) http://identifiers.org/clinvar/198800 ^@ NM_004385.4(VCAN):c.9104C>T (p.Ala3035Val) http://identifiers.org/clinvar/198854 ^@ NM_014141.5(CNTNAP2):c.1165C>T (p.Arg389Trp) http://identifiers.org/clinvar/198907 ^@ NM_024596.4(MCPH1):c.974C>T (p.Thr325Met) http://identifiers.org/clinvar/198960 ^@ NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter) http://identifiers.org/clinvar/199012 ^@ NM_000340.1(SLC2A2):c.1087G>T (p.Ala363Ser) http://identifiers.org/clinvar/199062 ^@ NM_001164277.1(SLC37A4):c.1067G>C (p.Ser356Thr) http://identifiers.org/clinvar/199116 ^@ NM_005957.4(MTHFR):c.1515C>T (p.Gly505=) http://identifiers.org/clinvar/199167 ^@ NM_001037633.1(SIL1):c.1007T>G (p.Leu336Arg) http://identifiers.org/clinvar/199223 ^@ NM_004543.4(NEB):c.13759G>A (p.Val4587Ile) http://identifiers.org/clinvar/199724 ^@ NM_000090.3(COL3A1):c.1676A>C (p.Glu559Ala) http://identifiers.org/clinvar/199888 ^@ NM_004415.3(DSP):c.5035C>T (p.His1679Tyr) http://identifiers.org/clinvar/199944 ^@ NM_004415.3(DSP):c.5167_5169delGAA (p.Glu1723del) http://identifiers.org/clinvar/200793 ^@ NM_000238.3(KCNH2):c.2084delA (p.Gln695Argfs) http://identifiers.org/clinvar/199663 ^@ NM_001613.2(ACTA2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/199778 ^@ NM_024422.4(DSC2):c.2125+1delG http://identifiers.org/clinvar/199833 ^@ NM_001943.4(DSG2):c.2548G>C (p.Glu850Gln) http://identifiers.org/clinvar/242594 ^@ NM_016124.4(RHD):c.957G>A (p.Val319=) http://identifiers.org/clinvar/232523 ^@ NM_005732.3(RAD50):c.487A>G (p.Asn163Asp) http://identifiers.org/clinvar/231534 ^@ NM_005732.3(RAD50):c.724A>G (p.Lys242Glu) http://identifiers.org/clinvar/232473 ^@ NM_000535.6(PMS2):c.779_780delCCinsGG (p.Ser260Trp) http://identifiers.org/clinvar/232423 ^@ NM_000051.3(ATM):c.1160A>G (p.Lys387Arg) http://identifiers.org/clinvar/231284 ^@ NM_000051.3(ATM):c.4917G>A (p.Pro1639=) http://identifiers.org/clinvar/231834 ^@ NM_000051.3(ATM):c.7156G>C (p.Ala2386Pro) http://identifiers.org/clinvar/230934 ^@ NM_005591.3(MRE11):c.863G>A (p.Arg288His) http://identifiers.org/clinvar/231034 ^@ NM_005591.3(MRE11):c.660-1G>A http://identifiers.org/clinvar/231234 ^@ NM_005591.3(MRE11):c.337G>A (p.Asp113Asn) http://identifiers.org/clinvar/231334 ^@ NM_000059.3(BRCA2):c.3666T>G (p.Ala1222=) http://identifiers.org/clinvar/230734 ^@ NM_000059.3(BRCA2):c.4216A>G (p.Lys1406Glu) http://identifiers.org/clinvar/232323 ^@ NM_000059.3(BRCA2):c.5283A>G (p.Gly1761=) http://identifiers.org/clinvar/230884 ^@ NM_000059.3(BRCA2):c.5745G>T (p.Thr1915=) http://identifiers.org/clinvar/231084 ^@ NM_000059.3(BRCA2):c.7520C>T (p.Pro2507Leu) http://identifiers.org/clinvar/230484 ^@ NM_000059.3(BRCA2):c.8551G>T (p.Ala2851Ser) http://identifiers.org/clinvar/232373 ^@ NM_000548.4(TSC2):c.30C>T (p.Gly10=) http://identifiers.org/clinvar/230634 ^@ NM_024675.3(PALB2):c.1704A>C (p.Gln568His) http://identifiers.org/clinvar/231184 ^@ NM_024675.3(PALB2):c.844A>G (p.Arg282Gly) http://identifiers.org/clinvar/231734 ^@ NM_024675.3(PALB2):c.658delA (p.Ser220Valfs) http://identifiers.org/clinvar/232273 ^@ NM_004360.4(CDH1):c.2282G>C (p.Gly761Ala) http://identifiers.org/clinvar/230834 ^@ NM_144997.5(FLCN):c.766A>T (p.Thr256Ser) http://identifiers.org/clinvar/231484 ^@ NM_001042492.2(NF1):c.1901T>C (p.Ile634Thr) http://identifiers.org/clinvar/229884 ^@ NM_001042492.2(NF1):c.4412A>G (p.Asn1471Ser) http://identifiers.org/clinvar/230434 ^@ NM_001042492.2(NF1):c.7758A>C (p.Ser2586=) http://identifiers.org/clinvar/231684 ^@ NM_002878.3(RAD51D):c.286G>T (p.Gly96Cys) http://identifiers.org/clinvar/231584 ^@ NM_007294.3(BRCA1):c.4557T>C (p.Asn1519=) http://identifiers.org/clinvar/230684 ^@ NM_007294.3(BRCA1):c.10T>C (p.Ser4Pro) http://identifiers.org/clinvar/230534 ^@ NM_000546.5(TP53):c.1073A>T (p.Glu358Val) http://identifiers.org/clinvar/231134 ^@ NM_007194.3(CHEK2):c.1591G>A (p.Glu531Lys) http://identifiers.org/clinvar/235849 ^@ NM_014271.3(IL1RAPL1):c.894_903delTTGGGAAAGT (p.Trp299Thrfs) http://identifiers.org/clinvar/236033 ^@ NM_005422.2(TECTA):c.6017A>G (p.Asp2006Gly) http://identifiers.org/clinvar/236133 ^@ NM_000350.2(ABCA4):c.5512C>A (p.His1838Asn) http://identifiers.org/clinvar/236083 ^@ NM_000350.2(ABCA4):c.1614C>T (p.Ala538=) http://identifiers.org/clinvar/242387 ^@ NM_003632.2(CNTNAP1):c.1869G>A (p.Trp623Ter) http://identifiers.org/clinvar/236473 ^@ NM_201253.2(CRB1):c.3017C>T (p.Ser1006Phe) http://identifiers.org/clinvar/236523 ^@ NM_006017.2(PROM1):c.1141+1G>A http://identifiers.org/clinvar/238669 ^@ NM_001232.3(CASQ2):c.1188T>C (p.Asp396=) http://identifiers.org/clinvar/239423 ^@ NM_003000.2(SDHB):c.178A>G (p.Thr60Ala) http://identifiers.org/clinvar/238819 ^@ NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) http://identifiers.org/clinvar/238769 ^@ NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys) http://identifiers.org/clinvar/238719 ^@ NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg) http://identifiers.org/clinvar/238869 ^@ NM_001267550.2(TTN):c.9571C>A (p.Gln3191Lys) http://identifiers.org/clinvar/241313 ^@ NM_020919.3(ALS2):c.4764G>A (p.Ala1588=) http://identifiers.org/clinvar/237830 ^@ NM_000465.3(BARD1):c.2146A>G (p.Thr716Ala) http://identifiers.org/clinvar/241963 ^@ NM_152383.4(DIS3L2):c.1638C>T (p.Asp546=) http://identifiers.org/clinvar/239823 ^@ NM_004304.4(ALK):c.3552G>C (p.Gly1184=) http://identifiers.org/clinvar/239120 ^@ NM_002354.2(EPCAM):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/237379 ^@ NM_000251.2(MSH2):c.1951A>G (p.Ile651Val) http://identifiers.org/clinvar/237128 ^@ NM_000179.2(MSH6):c.1167C>T (p.Pro389=) http://identifiers.org/clinvar/237178 ^@ NM_000179.2(MSH6):c.3163dupG (p.Ala1055Glyfs) http://identifiers.org/clinvar/241763 ^@ NM_053025.3(MYLK):c.524G>T (p.Gly175Val) http://identifiers.org/clinvar/241713 ^@ NM_032638.4(GATA2):c.1017+8C>T http://identifiers.org/clinvar/237329 ^@ NM_000249.3(MLH1):c.2044_2045delAT (p.Met682Valfs) http://identifiers.org/clinvar/238569 ^@ NM_001148.4(ANK2):c.1245A>G (p.Glu415=) http://identifiers.org/clinvar/237279 ^@ NM_000222.2(KIT):c.620-7A>G http://identifiers.org/clinvar/236573 ^@ NM_000038.5(APC):c.2314delA (p.Thr772Leufs) http://identifiers.org/clinvar/236623 ^@ NM_000038.5(APC):c.5909G>C (p.Ser1970Thr) http://identifiers.org/clinvar/242213 ^@ NM_198253.2(TERT):c.1269C>A (p.Ala423=) http://identifiers.org/clinvar/238969 ^@ NM_001369.2(DNAH5):c.2861A>C (p.Glu954Ala) http://identifiers.org/clinvar/239673 ^@ NM_004168.3(SDHA):c.513T>C (p.Arg171=) http://identifiers.org/clinvar/238619 ^@ NM_001190787.1(MCIDAS):c.234C>T (p.Asp78=) http://identifiers.org/clinvar/237780 ^@ NM_000410.3(HFE):c.1026C>T (p.Tyr342=) http://identifiers.org/clinvar/241413 ^@ NM_021930.5(RINT1):c.649G>T (p.Val217Phe) http://identifiers.org/clinvar/238919 ^@ NM_001277115.1(DNAH11):c.4455A>G (p.Leu1485=) http://identifiers.org/clinvar/262762 ^@ NM_153717.2(EVC):c.1068A>G (p.Leu356=) http://identifiers.org/clinvar/261812 ^@ NM_025074.6(FRAS1):c.7110C>T (p.His2370=) http://identifiers.org/clinvar/262062 ^@ NM_032446.2(MEGF10):c.156T>C (p.Phe52=) http://identifiers.org/clinvar/257983 ^@ NM_001369.2(DNAH5):c.11631C>T (p.Tyr3877=) http://identifiers.org/clinvar/258033 ^@ NM_001369.2(DNAH5):c.4356-3_4356-2delCA http://identifiers.org/clinvar/257433 ^@ NM_001099287.1(NIPAL4):c.-10A>G http://identifiers.org/clinvar/254944 ^@ NM_000082.3(ERCC8):c.77+16C>T http://identifiers.org/clinvar/261562 ^@ NM_022132.4(MCCC2):c.999+39T>G http://identifiers.org/clinvar/259372 ^@ NM_004385.4(VCAN):c.6237G>A (p.Lys2079=) http://identifiers.org/clinvar/262162 ^@ NM_033071.3(SYNE1):c.1372-24A>T http://identifiers.org/clinvar/262012 ^@ NM_032122.4(DTNBP1):c.511+50A>G http://identifiers.org/clinvar/262312 ^@ NM_080680.2(COL11A2):c.5071-7C>G http://identifiers.org/clinvar/262412 ^@ NM_138694.3(PKHD1):c.7733+33C>T http://identifiers.org/clinvar/259322 ^@ NM_004370.5(COL12A1):c.191-9T>C http://identifiers.org/clinvar/258133 ^@ NM_001458.4(FLNC):c.2266-14G>C http://identifiers.org/clinvar/257883 ^@ NM_001277115.1(DNAH11):c.3634T>C (p.Tyr1212His) http://identifiers.org/clinvar/257933 ^@ NM_001277115.1(DNAH11):c.8023A>G (p.Ile2675Val) http://identifiers.org/clinvar/260173 ^@ NM_012082.3(ZFPM2):c.1851G>A (p.Glu617=) http://identifiers.org/clinvar/258772 ^@ NM_002546.3(TNFRSF11B):c.400+4C>T http://identifiers.org/clinvar/262662 ^@ NM_152564.4(VPS13B):c.4949+34T>C http://identifiers.org/clinvar/255144 ^@ NM_000118.3(ENG):c.219+25G>T http://identifiers.org/clinvar/254744 ^@ NM_000050.4(ASS1):c.363+16A>G http://identifiers.org/clinvar/255094 ^@ NM_000093.4(COL5A1):c.4968C>T (p.Val1656=) http://identifiers.org/clinvar/262362 ^@ NM_133497.3(KCNV2):c.280G>A (p.Ala94Thr) http://identifiers.org/clinvar/260123 ^@ NM_007126.3(VCP):c.1360-35A>G http://identifiers.org/clinvar/261762 ^@ NM_024747.5(HPS6):c.1524C>T (p.Thr508=) http://identifiers.org/clinvar/256883 ^@ NM_001008211.1(OPTN):c.626+24G>A http://identifiers.org/clinvar/262112 ^@ NM_032844.4(MASTL):c.-27T>C http://identifiers.org/clinvar/262212 ^@ NM_033100.3(CDHR1):c.240C>T (p.Val80=) http://identifiers.org/clinvar/261962 ^@ NM_031433.3(MFRP):c.1387+3G>A http://identifiers.org/clinvar/259022 ^@ NM_003282.3(TNNI2):c.150G>A (p.Pro50=) http://identifiers.org/clinvar/260023 ^@ NM_006757.3(TNNT3):c.*36C>T http://identifiers.org/clinvar/261712 ^@ NM_024426.4(WT1):c.498C>A (p.Gly166=) http://identifiers.org/clinvar/258972 ^@ NM_003156.3(STIM1):c.1518A>G (p.Pro506=) http://identifiers.org/clinvar/259172 ^@ NM_003793.3(CTSF):c.762G>A (p.Arg254=) http://identifiers.org/clinvar/254694 ^@ NM_000017.3(ACADS):c.360+21C>G http://identifiers.org/clinvar/262812 ^@ NM_172364.4(CACNA2D4):c.2035C>T (p.Leu679=) http://identifiers.org/clinvar/261462 ^@ NM_021957.3(GYS2):c.1087A>G (p.Met363Val) http://identifiers.org/clinvar/258233 ^@ NM_001844.4(COL2A1):c.3328-20G>T http://identifiers.org/clinvar/256683 ^@ NM_000552.4(VWF):c.5312-47G>C http://identifiers.org/clinvar/261412 ^@ NM_021150.3(GRIP1):c.503-15C>A http://identifiers.org/clinvar/262262 ^@ NM_052867.2(NALCN):c.4330+18A>G http://identifiers.org/clinvar/261612 ^@ NM_022489.3(INF2):c.2775+15C>T http://identifiers.org/clinvar/257333 ^@ NM_001079668.2(NKX2-1):c.1191C>T (p.Tyr397=) http://identifiers.org/clinvar/261012 ^@ NM_018139.2(DNAAF2):c.1367C>T (p.Pro456Leu) http://identifiers.org/clinvar/257133 ^@ NM_001024858.2(SPTB):c.6132G>A (p.Val2044=) http://identifiers.org/clinvar/259622 ^@ NM_005050.3(ABCD4):c.981C>A (p.Leu327=) http://identifiers.org/clinvar/262512 ^@ NM_144596.3(TTC8):c.-25G>A http://identifiers.org/clinvar/257533 ^@ NM_001130010.2(C15orf41):c.423T>C (p.Tyr141=) http://identifiers.org/clinvar/257633 ^@ NM_001211.5(BUB1B):c.1623T>C (p.Asn541=) http://identifiers.org/clinvar/255294 ^@ NM_000138.4(FBN1):c.3589+36_3589+40delTTTTA http://identifiers.org/clinvar/334959 ^@ NM_152383.4(DIS3L2):c.*301G>T http://identifiers.org/clinvar/335659 ^@ NM_001029883.2(C2orf71):c.1582C>A (p.Arg528Ser) http://identifiers.org/clinvar/332918 ^@ NM_133378.4(TTN):c.16948G>C (p.Val5650Leu) http://identifiers.org/clinvar/335059 ^@ NM_002242.4(KCNJ13):c.-73T>C http://identifiers.org/clinvar/335109 ^@ NM_004369.3(COL6A3):c.7029+10C>T http://identifiers.org/clinvar/332818 ^@ NM_133378.4(TTN):c.53572C>T (p.Leu17858Phe) http://identifiers.org/clinvar/332968 ^@ NM_133378.4(TTN):c.1923A>C (p.Gln641His) http://identifiers.org/clinvar/333268 ^@ NM_007315.3(STAT1):c.1727+12C>T http://identifiers.org/clinvar/335509 ^@ NM_000221.2(KHK):c.*326G>A http://identifiers.org/clinvar/333518 ^@ NM_001228.4(CASP8):c.*411G>C http://identifiers.org/clinvar/335609 ^@ NM_001029883.2(C2orf71):c.*1226A>G http://identifiers.org/clinvar/335759 ^@ NM_000379.3(XDH):c.3665C>T (p.Thr1222Ile) http://identifiers.org/clinvar/334559 ^@ NM_181457.3(PAX3):c.1118C>T (p.Pro373Leu) http://identifiers.org/clinvar/334809 ^@ NM_000091.4(COL4A3):c.*1239C>G http://identifiers.org/clinvar/334909 ^@ NM_004509.3(SP110):c.895G>A (p.Gly299Arg) http://identifiers.org/clinvar/334659 ^@ NM_000092.4(COL4A4):c.*3467C>G http://identifiers.org/clinvar/335159 ^@ NM_004544.3(NDUFA10):c.*3098A>T http://identifiers.org/clinvar/335309 ^@ NM_152783.4(D2HGDH):c.-91C>G http://identifiers.org/clinvar/343395 ^@ NM_153240.4(NPHP3):c.-69A>G http://identifiers.org/clinvar/335209 ^@ NM_004321.7(KIF1A):c.*3499C>T http://identifiers.org/clinvar/335709 ^@ NM_004304.4(ALK):c.930G>T (p.Glu310Asp) http://identifiers.org/clinvar/343595 ^@ NM_001184.3(ATR):c.6079-14G>A http://identifiers.org/clinvar/343645 ^@ NM_000935.2(PLOD2):c.1669A>G (p.Ile557Val) http://identifiers.org/clinvar/343995 ^@ NM_001041.3(SI):c.*314delT http://identifiers.org/clinvar/343295 ^@ NM_000539.3(RHO):c.*488T>C http://identifiers.org/clinvar/354561 ^@ NM_002397.4(MEF2C):c.*2979C>T http://identifiers.org/clinvar/357401 ^@ NM_138694.3(PKHD1):c.*27G>A http://identifiers.org/clinvar/354661 ^@ NM_005068.2(SIM1):c.*1453G>T http://identifiers.org/clinvar/357551 ^@ NM_001723.5(DST):c.6994A>C (p.Asn2332His) http://identifiers.org/clinvar/354711 ^@ NM_001491.2(GCNT2):c.*93G>A http://identifiers.org/clinvar/357651 ^@ NM_000129.3(F13A1):c.*945T>C http://identifiers.org/clinvar/358240 ^@ NM_020320.4(RARS2):c.26T>C (p.Ile9Thr) http://identifiers.org/clinvar/358440 ^@ NM_006348.3(COG5):c.*997G>A http://identifiers.org/clinvar/358540 ^@ NM_000111.2(SLC26A3):c.1744C>G (p.Gln582Glu) http://identifiers.org/clinvar/358690 ^@ NM_001127500.2(MET):c.1992G>A (p.Pro664=) http://identifiers.org/clinvar/355601 ^@ NM_003764.3(STX11):c.264C>T (p.Ser88=) http://identifiers.org/clinvar/351574 ^@ NM_024577.3(SH3TC2):c.*21728T>C http://identifiers.org/clinvar/358740 ^@ NM_000492.3(CFTR):c.*325A>G http://identifiers.org/clinvar/355701 ^@ NM_203395.2(IYD):c.*673T>G http://identifiers.org/clinvar/351474 ^@ NM_054027.4(ANKH):c.*939_*942dupAAGT http://identifiers.org/clinvar/355751 ^@ NM_203395.2(IYD):c.*3140C>T http://identifiers.org/clinvar/358840 ^@ NM_000230.2(LEP):c.*2015C>A http://identifiers.org/clinvar/351674 ^@ NM_024577.3(SH3TC2):c.*12969C>A http://identifiers.org/clinvar/351624 ^@ NM_024577.3(SH3TC2):c.*16928A>G http://identifiers.org/clinvar/351874 ^@ NM_024577.3(SH3TC2):c.*929G>C http://identifiers.org/clinvar/359090 ^@ NM_000083.2(CLCN1):c.57C>A (p.Asp19Glu) http://identifiers.org/clinvar/359140 ^@ NM_001080413.3(NOBOX):c.1546C>T (p.Pro516Ser) http://identifiers.org/clinvar/359240 ^@ NM_014141.5(CNTNAP2):c.*2921C>T http://identifiers.org/clinvar/351774 ^@ NM_024577.3(SH3TC2):c.*7197G>C http://identifiers.org/clinvar/352024 ^@ NM_000112.3(SLC26A2):c.993A>C (p.Ala331=) http://identifiers.org/clinvar/352072 ^@ NM_000112.3(SLC26A2):c.*3225T>C http://identifiers.org/clinvar/351924 ^@ NM_024577.3(SH3TC2):c.-92C>T http://identifiers.org/clinvar/356201 ^@ NM_000410.3(HFE):c.*517A>G http://identifiers.org/clinvar/359490 ^@ NM_001101426.3(ISPD):c.*3491G>A http://identifiers.org/clinvar/356251 ^@ NM_000063.5(C2):c.1529G>A (p.Arg510His) http://identifiers.org/clinvar/352172 ^@ NM_005211.3(CSF1R):c.282C>T (p.Ser94=) http://identifiers.org/clinvar/351974 ^@ NM_000440.2(PDE6A):c.*257delA http://identifiers.org/clinvar/352222 ^@ NM_001135243.1(TCOF1):c.2970G>A (p.Ser990=) http://identifiers.org/clinvar/356351 ^@ NM_006929.4(SKIV2L):c.3467A>T (p.Gln1156Leu) http://identifiers.org/clinvar/352322 ^@ NM_000171.3(GLRA1):c.94G>A (p.Ala32Thr) http://identifiers.org/clinvar/352122 ^@ NM_005211.3(CSF1R):c.2886C>T (p.Pro962=) http://identifiers.org/clinvar/356451 ^@ NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp) http://identifiers.org/clinvar/352522 ^@ NM_001099287.1(NIPAL4):c.1176G>A (p.Ser392=) http://identifiers.org/clinvar/352272 ^@ NM_000405.4(GM2A):c.*722_*723dupTT http://identifiers.org/clinvar/352572 ^@ NM_002187.2(IL12B):c.892G>T (p.Val298Phe) http://identifiers.org/clinvar/356651 ^@ NM_005943.5(MOCS1):c.*69G>C http://identifiers.org/clinvar/356901 ^@ NM_006502.2(POLH):c.698A>G (p.Asn233Ser) http://identifiers.org/clinvar/352622 ^@ NM_000806.5(GABRA1):c.*1929T>C http://identifiers.org/clinvar/352772 ^@ NM_001017995.2(SH3PXD2B):c.*1429C>T http://identifiers.org/clinvar/352822 ^@ NM_001017995.2(SH3PXD2B):c.522C>T (p.Ser174=) http://identifiers.org/clinvar/357101 ^@ NM_001024630.3(RUNX2):c.*591delG http://identifiers.org/clinvar/357251 ^@ NM_000255.3(MUT):c.*103A>G http://identifiers.org/clinvar/357351 ^@ NM_003221.3(TFAP2B):c.*4124T>C http://identifiers.org/clinvar/357601 ^@ NM_001723.5(DST):c.2435C>T (p.Ala812Val) http://identifiers.org/clinvar/353761 ^@ NM_002203.3(ITGA2):c.2099T>C (p.Ile700Thr) http://identifiers.org/clinvar/353811 ^@ NM_002203.3(ITGA2):c.*1825T>C http://identifiers.org/clinvar/306234 ^@ NM_024698.5(SLC25A22):c.*1084C>G http://identifiers.org/clinvar/306284 ^@ NM_024698.5(SLC25A22):c.-279C>T http://identifiers.org/clinvar/306385 ^@ NM_012193.3(FZD4):c.*1298C>T http://identifiers.org/clinvar/306435 ^@ NM_001814.5(CTSC):c.-23C>G http://identifiers.org/clinvar/306535 ^@ NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) http://identifiers.org/clinvar/364238 ^@ NM_014425.4(INVS):c.*98A>G http://identifiers.org/clinvar/364038 ^@ NM_001001557.3(GDF6):c.*165C>T http://identifiers.org/clinvar/306635 ^@ NM_139319.2(SLC17A8):c.1253C>T (p.Ser418Phe) http://identifiers.org/clinvar/306885 ^@ NM_000618.4(IGF1):c.*2375delA http://identifiers.org/clinvar/364338 ^@ NM_005502.3(ABCA1):c.*1923A>C http://identifiers.org/clinvar/364388 ^@ NM_005502.3(ABCA1):c.5383-6_5383-3dupTTTT http://identifiers.org/clinvar/307185 ^@ NM_001681.3(ATP2A2):c.2860-5_2860-4delGT http://identifiers.org/clinvar/364438 ^@ NM_005502.3(ABCA1):c.2040C>A (p.Ile680=) http://identifiers.org/clinvar/307335 ^@ NM_005996.3(TBX3):c.*747G>A http://identifiers.org/clinvar/364488 ^@ NM_001079802.1(FKTN):c.397A>G (p.Met133Val) http://identifiers.org/clinvar/364588 ^@ NM_003640.4(IKBKAP):c.-156G>A http://identifiers.org/clinvar/364888 ^@ NM_002316.3(LMX1B):c.1031-5C>A http://identifiers.org/clinvar/364688 ^@ NM_015404.3(WHRN):c.1378G>A (p.Val460Ile) http://identifiers.org/clinvar/364988 ^@ NM_002316.3(LMX1B):c.*4012C>T http://identifiers.org/clinvar/364788 ^@ NM_018249.5(CDK5RAP2):c.-111A>G http://identifiers.org/clinvar/364938 ^@ NM_002316.3(LMX1B):c.*1644C>G http://identifiers.org/clinvar/308524 ^@ NM_004572.3(PKP2):c.-96_-92dupAGCGG http://identifiers.org/clinvar/365488 ^@ NM_000368.4(TSC1):c.*841C>T http://identifiers.org/clinvar/365138 ^@ NM_001003722.1(GLE1):c.*181C>A http://identifiers.org/clinvar/308824 ^@ NM_001017535.1(VDR):c.*2263G>A http://identifiers.org/clinvar/308924 ^@ NM_001844.4(COL2A1):c.1680+8G>T http://identifiers.org/clinvar/365338 ^@ NM_015046.5(SETX):c.7825C>G (p.Pro2609Ala) http://identifiers.org/clinvar/309274 ^@ NM_000486.5(AQP2):c.*3168T>C http://identifiers.org/clinvar/366228 ^@ NM_203447.3(DOCK8):c.36C>A (p.Phe12Leu) http://identifiers.org/clinvar/309824 ^@ NM_000456.2(SUOX):c.-158C>T http://identifiers.org/clinvar/309974 ^@ NM_000075.3(CDK4):c.*303dupT http://identifiers.org/clinvar/310024 ^@ NM_001172696.1(TSFM):c.*262T>A http://identifiers.org/clinvar/310074 ^@ NM_000552.4(VWF):c.2289G>A (p.Arg763=) http://identifiers.org/clinvar/366278 ^@ NM_002451.3(MTAP):c.*1384G>C http://identifiers.org/clinvar/366728 ^@ NM_004629.1(FANCG):c.*250C>T http://identifiers.org/clinvar/367078 ^@ NM_004170.5(SLC1A1):c.*948G>A http://identifiers.org/clinvar/321892 ^@ NM_006445.3(PRPF8):c.3657+9T>C http://identifiers.org/clinvar/340656 ^@ NM_014339.6(IL17RA):c.*2346delA http://identifiers.org/clinvar/322242 ^@ NM_000382.2(ALDH3A2):c.*1938G>A http://identifiers.org/clinvar/314667 ^@ NM_004863.3(SPTLC2):c.1449A>T (p.Gly483=) http://identifiers.org/clinvar/340806 ^@ NM_017929.5(PEX26):c.*2162G>A http://identifiers.org/clinvar/314767 ^@ NM_000153.3(GALC):c.-29delC http://identifiers.org/clinvar/322392 ^@ NM_080669.5(SLC46A1):c.*1006A>C http://identifiers.org/clinvar/322442 ^@ NM_003593.2(FOXN1):c.*280C>G http://identifiers.org/clinvar/341056 ^@ NM_007194.3(CHEK2):c.-25C>T http://identifiers.org/clinvar/322492 ^@ NM_178170.2(NEK8):c.*344C>T http://identifiers.org/clinvar/341206 ^@ NM_000355.3(TCN2):c.921A>C (p.Pro307=) http://identifiers.org/clinvar/322742 ^@ NM_145068.3(TRPV3):c.*85A>G http://identifiers.org/clinvar/341556 ^@ NM_013416.3(NCF4):c.655T>C (p.Phe219Leu) http://identifiers.org/clinvar/341656 ^@ NM_000026.3(ADSL):c.763C>T (p.Leu255=) http://identifiers.org/clinvar/322992 ^@ NM_001004334.3(GPR179):c.3806C>T (p.Thr1269Met) http://identifiers.org/clinvar/315367 ^@ NM_144599.4(NIPA1):c.*3112dupC http://identifiers.org/clinvar/323042 ^@ NM_001004334.3(GPR179):c.98G>A (p.Arg33His) http://identifiers.org/clinvar/341806 ^@ NM_001429.3(EP300):c.4503G>A (p.Leu1501=) http://identifiers.org/clinvar/315467 ^@ NM_000275.2(OCA2):c.1370G>T (p.Cys457Phe) http://identifiers.org/clinvar/341856 ^@ NM_001429.3(EP300):c.*922_*938del17insC http://identifiers.org/clinvar/367757 ^@ NM_002294.2(LAMP2):c.*2395A>G http://identifiers.org/clinvar/367857 ^@ NM_001167.3(XIAP):c.*6211C>T http://identifiers.org/clinvar/314467 ^@ NM_052873.2(IFT43):c.92C>T (p.Ala31Val) http://identifiers.org/clinvar/316656 ^@ NM_000236.2(LIPC):c.283G>A (p.Val95Met) http://identifiers.org/clinvar/316856 ^@ NM_005902.3(SMAD3):c.-168C>A http://identifiers.org/clinvar/317056 ^@ NM_033028.4(BBS4):c.-44G>C http://identifiers.org/clinvar/314967 ^@ NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) http://identifiers.org/clinvar/315117 ^@ NM_177438.2(DICER1):c.-156A>C http://identifiers.org/clinvar/315267 ^@ NM_139057.3(ADAMTS17):c.2472C>T (p.Ile824=) http://identifiers.org/clinvar/317306 ^@ NM_001113378.1(FANCI):c.*244dupC http://identifiers.org/clinvar/315317 ^@ NM_139057.3(ADAMTS17):c.520A>C (p.Ser174Arg) http://identifiers.org/clinvar/317407 ^@ NM_000057.3(BLM):c.2739C>T (p.Leu913=) http://identifiers.org/clinvar/317607 ^@ NM_000875.4(IGF1R):c.*5515C>T http://identifiers.org/clinvar/315767 ^@ NM_152594.2(SPRED1):c.*3521A>G http://identifiers.org/clinvar/317707 ^@ NM_000246.3(CIITA):c.2331G>T (p.Ser777=) http://identifiers.org/clinvar/372101 ^@ NM_032043.2(BRIP1):c.205+1delG http://identifiers.org/clinvar/372163 ^@ NM_003412.3(ZIC1):c.1204G>T (p.Glu402Ter) http://identifiers.org/clinvar/372230 ^@ NM_207421.4(PADI6):c.633T>A (p.His211Gln) http://identifiers.org/clinvar/372284 ^@ NM_001010874.4(TECRL):c.587G>A (p.Arg196Gln) http://identifiers.org/clinvar/372337 ^@ NM_000094.3(COL7A1):c.5047C>T (p.Arg1683Ter) http://identifiers.org/clinvar/372438 ^@ NM_000280.4(PAX6):c.109delG (p.Ala37Profs) http://identifiers.org/clinvar/372547 ^@ NM_016373.3(WWOX):c.131G>A (p.Trp44Ter) http://identifiers.org/clinvar/372597 ^@ NM_013275.5(ANKRD11):c.674C>T (p.Ala225Val) http://identifiers.org/clinvar/372494 ^@ NM_001022.3(RPS19):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/372387 ^@ NM_003639.4(IKBKG):c.1167dupC (p.Glu390Argfs) http://identifiers.org/clinvar/375602 ^@ NM_002485.4(NBN):c.681delT (p.Phe227LeufsTer4) http://identifiers.org/clinvar/375656 ^@ NM_006446.4(SLCO1B1):c.1865+4846T>C http://identifiers.org/clinvar/375747 ^@ NM_000517.4(HBA2):c.207C>G (p.Asn69Lys) http://identifiers.org/clinvar/375850 ^@ NM_174936.3(PCSK9):c.1773C>G (p.His591Gln) http://identifiers.org/clinvar/375800 ^@ NM_000527.4(LDLR):c.782G>A (p.Cys261Tyr) http://identifiers.org/clinvar/375903 ^@ NM_000222.2(KIT):c.1468G>A (p.Glu490Lys) http://identifiers.org/clinvar/382365 ^@ NM_033109.4(PNPT1):c.223-13C>G http://identifiers.org/clinvar/379170 ^@ NM_138395.3(MARS2):c.322C>T (p.Leu108=) http://identifiers.org/clinvar/393135 ^@ NM_002880.3(RAF1):c.1867C>T (p.Pro623Ser) http://identifiers.org/clinvar/381163 ^@ NM_002880.3(RAF1):c.873A>G (p.Ser291=) http://identifiers.org/clinvar/387347 ^@ NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) http://identifiers.org/clinvar/385408 ^@ NM_205847.2(GMPPA):c.300C>T (p.Asp100=) http://identifiers.org/clinvar/381864 ^@ NM_182916.2(TRNT1):c.-27-20C>G http://identifiers.org/clinvar/382064 ^@ NM_178862.2(STT3B):c.927T>G (p.Pro309=) http://identifiers.org/clinvar/378920 ^@ NM_198056.2(SCN5A):c.4008C>T (p.Asn1336=) http://identifiers.org/clinvar/385308 ^@ NM_000060.4(BTD):c.262C>G (p.Gln88Glu) http://identifiers.org/clinvar/387997 ^@ NM_178862.2(STT3B):c.2073+14T>C http://identifiers.org/clinvar/387447 ^@ NM_000158.3(GBE1):c.1635T>C (p.His545=) http://identifiers.org/clinvar/384708 ^@ NM_006514.3(SCN10A):c.3087+15C>T http://identifiers.org/clinvar/381964 ^@ NM_001135659.2(NRXN1):c.300T>G (p.Pro100=) http://identifiers.org/clinvar/389136 ^@ NM_001148.4(ANK2):c.9775T>C (p.Ser3259Pro) http://identifiers.org/clinvar/378719 ^@ NM_006070.5(TFG):c.416-9T>C http://identifiers.org/clinvar/379370 ^@ NM_000065.3(C6):c.2381+2T>C http://identifiers.org/clinvar/386497 ^@ NM_002290.4(LAMA4):c.3393+7A>C http://identifiers.org/clinvar/388497 ^@ NM_020117.10(LARS):c.3064G>C (p.Glu1022Gln) http://identifiers.org/clinvar/379620 ^@ NM_022455.4(NSD1):c.4765+1G>A http://identifiers.org/clinvar/389186 ^@ NM_174889.4(NDUFAF2):c.258+18G>A http://identifiers.org/clinvar/392435 ^@ NM_014845.5(FIG4):c.1770C>T (p.Ser590=) http://identifiers.org/clinvar/389236 ^@ NM_001457.3(FLNB):c.4672-11A>G http://identifiers.org/clinvar/377471 ^@ NM_001148.4(ANK2):c.792+15A>G http://identifiers.org/clinvar/379020 ^@ NM_014141.5(CNTNAP2):c.3476-7C>T http://identifiers.org/clinvar/381713 ^@ NM_001723.5(DST):c.5780A>G (p.His1927Arg) http://identifiers.org/clinvar/387947 ^@ NM_000238.3(KCNH2):c.1500C>A (p.Ile500=) http://identifiers.org/clinvar/382114 ^@ NM_001167734.1(VARS2):c.1954C>T (p.Leu652=) http://identifiers.org/clinvar/381313 ^@ NM_005045.3(RELN):c.10122C>T (p.Ile3374=) http://identifiers.org/clinvar/387597 ^@ NM_198428.2(BBS9):c.436G>A (p.Val146Ile) http://identifiers.org/clinvar/383717 ^@ NM_002291.2(LAMB1):c.2383C>G (p.Arg795Gly) http://identifiers.org/clinvar/382515 ^@ NM_005431.1(XRCC2):c.-17G>T http://identifiers.org/clinvar/384858 ^@ NM_032446.2(MEGF10):c.-69-7A>G http://identifiers.org/clinvar/387897 ^@ NM_002485.4(NBN):c.2070+18A>G http://identifiers.org/clinvar/382014 ^@ NM_000337.5(SGCD):c.*4A>G http://identifiers.org/clinvar/392585 ^@ NM_018941.3(CLN8):c.495C>T (p.Leu165=) http://identifiers.org/clinvar/383306 ^@ NM_153033.4(KCTD7):c.489C>T (p.Tyr163=) http://identifiers.org/clinvar/379320 ^@ NM_018249.5(CDK5RAP2):c.412G>A (p.Gly138Ser) http://identifiers.org/clinvar/381263 ^@ NM_018941.3(CLN8):c.297G>A (p.Gln99=) http://identifiers.org/clinvar/387247 ^@ NM_003640.4(IKBKAP):c.888A>G (p.Ala296=) http://identifiers.org/clinvar/386597 ^@ NM_000093.4(COL5A1):c.3690+6T>A http://identifiers.org/clinvar/382265 ^@ NM_006393.2(NEBL):c.154-10T>C http://identifiers.org/clinvar/386547 ^@ NM_006393.2(NEBL):c.69T>C (p.Asn23=) http://identifiers.org/clinvar/134702 ^@ NM_003482.3(KMT2D):c.8006T>G (p.Met2669Arg) http://identifiers.org/clinvar/134753 ^@ NM_170606.2(KMT2C):c.5903A>G (p.Asp1968Gly) http://identifiers.org/clinvar/134803 ^@ NM_170606.2(KMT2C):c.11570C>T (p.Thr3857Met) http://identifiers.org/clinvar/134856 ^@ NM_000179.2(MSH6):c.3758T>C (p.Val1253Ala) http://identifiers.org/clinvar/134907 ^@ NM_017617.4(NOTCH1):c.1699A>G (p.Ile567Val) http://identifiers.org/clinvar/134957 ^@ NM_017617.4(NOTCH1):c.6991G>A (p.Ala2331Thr) http://identifiers.org/clinvar/135007 ^@ NM_018313.4(PBRM1):c.2816G>T (p.Gly939Val) http://identifiers.org/clinvar/135057 ^@ NM_000534.4(PMS1):c.1181T>C (p.Met394Thr) http://identifiers.org/clinvar/135108 ^@ NM_000264.3(PTCH1):c.520G>A (p.Ala174Thr) http://identifiers.org/clinvar/135160 ^@ NM_004260.3(RECQL4):c.307C>T (p.Pro103Ser) http://identifiers.org/clinvar/185582 ^@ NM_007294.3(BRCA1):c.2295G>A (p.Glu765=) http://identifiers.org/clinvar/184882 ^@ NM_000546.5(TP53):c.740A>T (p.Asn247Ile) http://identifiers.org/clinvar/187966 ^@ NM_004409.4(DMPK):c.*224_*226[354] http://identifiers.org/clinvar/188016 ^@ NM_004409.4(DMPK):c.*224_*226[64] http://identifiers.org/clinvar/188378 ^@ NM_014874.3(MFN2):c.1723C>T (p.Arg575Cys) http://identifiers.org/clinvar/188325 ^@ NM_000530.7(MPZ):c.314C>T (p.Pro105Leu) http://identifiers.org/clinvar/188168 ^@ NM_000530.7(MPZ):c.182A>G (p.Asp61Gly) http://identifiers.org/clinvar/188066 ^@ NM_130799.2(MEN1):c.1637C>T (p.Pro546Leu) http://identifiers.org/clinvar/188219 ^@ NM_024675.3(PALB2):c.2597delG (p.Gly866Valfs) http://identifiers.org/clinvar/188117 ^@ NM_024675.3(PALB2):c.1096A>G (p.Asn366Asp) http://identifiers.org/clinvar/188273 ^@ NM_030578.3(B9D2):c.156_163delGGACATGG (p.Asp53Leufs) http://identifiers.org/clinvar/188686 ^@ NM_001001430.2(TNNT2):c.571-29G>A http://identifiers.org/clinvar/188586 ^@ NM_000256.3(MYBPC3):c.3627+30G>A http://identifiers.org/clinvar/188536 ^@ NM_000256.3(MYBPC3):c.790dupG (p.Asp264Glyfs) http://identifiers.org/clinvar/188436 ^@ NM_000059.3(BRCA2):c.7008-1G>A http://identifiers.org/clinvar/188636 ^@ NM_000257.3(MYH7):c.4520-25C>T http://identifiers.org/clinvar/188486 ^@ NM_000152.4(GAA):c.2845G>A (p.Val949Ile) http://identifiers.org/clinvar/188937 ^@ NM_000228.2(LAMB3):c.463dupT (p.Ser155Phefs) http://identifiers.org/clinvar/188987 ^@ NM_000182.4(HADHA):c.703C>T (p.Arg235Trp) http://identifiers.org/clinvar/189138 ^@ NM_000128.3(F11):c.1313C>A (p.Ser438Ter) http://identifiers.org/clinvar/188887 ^@ NM_000128.3(F11):c.1556G>A (p.Trp519Ter) http://identifiers.org/clinvar/188736 ^@ NM_138694.3(PKHD1):c.1877A>G (p.Lys626Arg) http://identifiers.org/clinvar/188836 ^@ NM_000352.4(ABCC8):c.4628T>C (p.Leu1543Pro) http://identifiers.org/clinvar/189038 ^@ NM_006493.2(CLN5):c.924_925delAT (p.Phe309Serfs) http://identifiers.org/clinvar/189188 ^@ NM_000152.4(GAA):c.670C>T (p.Arg224Trp) http://identifiers.org/clinvar/188786 ^@ NM_000152.4(GAA):c.1843G>A (p.Gly615Arg) http://identifiers.org/clinvar/189088 ^@ NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) http://identifiers.org/clinvar/189255 ^@ NM_002240.4(KCNJ6):c.460G>A (p.Gly154Ser) http://identifiers.org/clinvar/189308 ^@ NM_174936.3(PCSK9):c.610G>A (p.Asp204Asn) http://identifiers.org/clinvar/189390 ^@ NC_000007.14:g.153952692_154288910del336219 http://identifiers.org/clinvar/189456 ^@ NM_000314.6(PTEN):c.-26T>C http://identifiers.org/clinvar/189962 ^@ NM_001165963.1(SCN1A):c.1007G>A (p.Cys336Tyr) http://identifiers.org/clinvar/190012 ^@ NM_001165963.1(SCN1A):c.473+1G>C http://identifiers.org/clinvar/190460 ^@ NM_000181.3(GUSB):c.398G>C (p.Trp133Ser) http://identifiers.org/clinvar/228693 ^@ NM_021167.4(GATAD1):c.175_177dupGGC (p.Gly59_Phe60insGly) http://identifiers.org/clinvar/227893 ^@ NM_001134363.2(RBM20):c.3177A>G (p.Pro1059=) http://identifiers.org/clinvar/229043 ^@ NM_006393.2(NEBL):c.205A>G (p.Thr69Ala) http://identifiers.org/clinvar/227842 ^@ NM_033056.3(PCDH15):c.5424A>C (p.Pro1808=) http://identifiers.org/clinvar/228493 ^@ NM_022124.5(CDH23):c.3566G>T (p.Arg1189Leu) http://identifiers.org/clinvar/227943 ^@ NM_005411.4(SFTPA1):c.630C>G (p.Asn210Lys) http://identifiers.org/clinvar/228793 ^@ NM_007078.2(LDB3):c.1153A>G (p.Ser385Gly) http://identifiers.org/clinvar/227993 ^@ NM_005422.2(TECTA):c.2358G>A (p.Ser786=) http://identifiers.org/clinvar/228193 ^@ NM_153676.3(USH1C):c.1548G>A (p.Pro516=) http://identifiers.org/clinvar/229093 ^@ NM_001277269.1(OTOG):c.4198_4215del18 (p.Lys1400_Ala1405del) http://identifiers.org/clinvar/227792 ^@ NM_001277269.1(OTOG):c.7084G>A (p.Glu2362Lys) http://identifiers.org/clinvar/228543 ^@ NM_003476.4(CSRP3):c.354G>C (p.Glu118Asp) http://identifiers.org/clinvar/228393 ^@ NM_014363.5(SACS):c.7641dupA (p.Glu2548Argfs) http://identifiers.org/clinvar/228893 ^@ NM_002471.3(MYH6):c.4176-6G>T http://identifiers.org/clinvar/228943 ^@ NM_016239.3(MYO15A):c.1103_1105delACT (p.Tyr368del) http://identifiers.org/clinvar/227642 ^@ NM_016239.3(MYO15A):c.4484C>T (p.Thr1495Met) http://identifiers.org/clinvar/227742 ^@ NM_000267.3(NF1):c.4661+11A>G http://identifiers.org/clinvar/227211 ^@ NM_017950.3(CCDC40):c.1467C>T (p.Ser489=) http://identifiers.org/clinvar/227692 ^@ NM_003803.3(MYOM1):c.1917C>T (p.Gly639=) http://identifiers.org/clinvar/228293 ^@ NM_001039876.2(SYNE4):c.559C>T (p.Arg187Ter) http://identifiers.org/clinvar/228843 ^@ NM_001042544.1(LTBP4):c.415A>G (p.Arg139Gly) http://identifiers.org/clinvar/228343 ^@ NM_001972.3(ELANE):c.598-1G>A http://identifiers.org/clinvar/228043 ^@ NM_001039141.2(TRIOBP):c.6986G>A (p.Ser2329Asn) http://identifiers.org/clinvar/228593 ^@ NM_004006.2(DMD):c.6118-13T>G http://identifiers.org/clinvar/228443 ^@ NM_001692.3(ATP6V1B1):c.1061-13A>G http://identifiers.org/clinvar/231384 ^@ NM_000465.3(BARD1):c.1452G>A (p.Lys484=) http://identifiers.org/clinvar/230784 ^@ NM_000465.3(BARD1):c.86A>T (p.Asp29Val) http://identifiers.org/clinvar/230984 ^@ NM_000179.2(MSH6):c.719G>A (p.Arg240Gln) http://identifiers.org/clinvar/230584 ^@ NM_000179.2(MSH6):c.3732_3734dupATT (p.Leu1244_Phe1245insLeu) http://identifiers.org/clinvar/230334 ^@ NM_000551.3(VHL):c.255G>A (p.Leu85=) http://identifiers.org/clinvar/231634 ^@ NM_000249.3(MLH1):c.602T>C (p.Val201Ala) http://identifiers.org/clinvar/231784 ^@ NM_000038.5(APC):c.75A>G (p.Gln25=) http://identifiers.org/clinvar/230384 ^@ NM_000038.5(APC):c.1124delG (p.Gly375Alafs) http://identifiers.org/clinvar/231434 ^@ NM_000038.5(APC):c.4120G>A (p.Glu1374Lys) http://identifiers.org/clinvar/263909 ^@ NM_005902.3(SMAD3):c.381C>T (p.Tyr127=) http://identifiers.org/clinvar/263659 ^@ NM_004612.2:c.76_78delCGC http://identifiers.org/clinvar/267127 ^@ NM_000059.3(BRCA2):c.8993_9024del32 (p.Ser2998Leufs) http://identifiers.org/clinvar/267177 ^@ NM_000059.3(BRCA2):c.9924C>A (p.Tyr3308Ter) http://identifiers.org/clinvar/267247 ^@ NM_015247.2(CYLD):c.2242-2A>G http://identifiers.org/clinvar/267323 ^@ NC_000003.12:g.(?_38603706)_(38633313_?)dup http://identifiers.org/clinvar/267395 ^@ c.7010_7011del http://identifiers.org/clinvar/267478 ^@ NC_000016.9:g.(?_88556191)_(89557911_?)del http://identifiers.org/clinvar/267634 ^@ NM_000059.3(BRCA2):c.-227-?_9256+?del http://identifiers.org/clinvar/267684 ^@ NM_000059.3(BRCA2):c.7618-2A>G http://identifiers.org/clinvar/267534 ^@ NM_007294.3(BRCA1):c.4358-?_4986+?del http://identifiers.org/clinvar/267584 ^@ NM_007294.3(BRCA1):c.5194-1G>C http://identifiers.org/clinvar/267734 ^@ NM_006086.3(TUBB3):c.1200C>T (p.Gly400=) http://identifiers.org/clinvar/267813 ^@ 46;X;t(X;9)(p22.2;p13)dn http://identifiers.org/clinvar/268130 ^@ NM_000121.3(EPOR):c.1462C>T (p.Pro488Ser) http://identifiers.org/clinvar/268198 ^@ NC_000009.11:g.(?_26274518)_(26372379_?)del http://identifiers.org/clinvar/279610 ^@ NM_030813.5(CLPB):c.1882C>T (p.Arg628Cys) http://identifiers.org/clinvar/292114 ^@ NM_001232.3(CASQ2):c.*1187_*1190delCTAA http://identifiers.org/clinvar/292214 ^@ NM_005957.4(MTHFR):c.*866C>T http://identifiers.org/clinvar/292364 ^@ NM_014874.3(MFN2):c.-328T>A http://identifiers.org/clinvar/292514 ^@ NM_019032.5(ADAMTSL4):c.-100G>A http://identifiers.org/clinvar/292864 ^@ NM_022367.3(SEMA4A):c.*188G>T http://identifiers.org/clinvar/292164 ^@ NM_005957.4(MTHFR):c.*4074_*4077delAAAA http://identifiers.org/clinvar/293014 ^@ NM_003126.2(SPTA1):c.2472C>T (p.Asp824=) http://identifiers.org/clinvar/292264 ^@ NM_000198.3(HSD3B2):c.750T>C (p.Gly250=) http://identifiers.org/clinvar/293214 ^@ NM_002857.3(PEX19):c.*898A>G http://identifiers.org/clinvar/292314 ^@ NM_006623.3(PHGDH):c.644-12G>A http://identifiers.org/clinvar/292414 ^@ NM_014874.3(MFN2):c.*1800_*1802delGTT http://identifiers.org/clinvar/293414 ^@ NM_004431.4(EPHA2):c.2097C>T (p.Ala699=) http://identifiers.org/clinvar/293114 ^@ NM_002241.4(KCNJ10):c.*171C>T http://identifiers.org/clinvar/292564 ^@ NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala) http://identifiers.org/clinvar/292464 ^@ NM_005267.4(GJA8):c.285C>T (p.His95=) http://identifiers.org/clinvar/292614 ^@ NM_000449.3(RFX5):c.982C>A (p.Arg328=) http://identifiers.org/clinvar/293364 ^@ NM_003001.3(SDHC):c.*2111C>T http://identifiers.org/clinvar/292664 ^@ NM_152263.3(TPM3):c.*2220T>C http://identifiers.org/clinvar/292714 ^@ NM_001111.4(ADAR):c.*2316G>A http://identifiers.org/clinvar/292914 ^@ NM_007272.2(CTRC):c.703G>A (p.Val235Ile) http://identifiers.org/clinvar/292764 ^@ NM_001111.4(ADAR):c.2762+10G>A http://identifiers.org/clinvar/292814 ^@ NM_000298.5(PKLR):c.639G>T (p.Val213=) http://identifiers.org/clinvar/292964 ^@ NM_003126.2(SPTA1):c.5786C>G (p.Ala1929Gly) http://identifiers.org/clinvar/293064 ^@ NM_003126.2(SPTA1):c.-54_-41dupCTCTCTCTCTCTCT http://identifiers.org/clinvar/293164 ^@ NM_000702.3(ATP1A2):c.*1211C>A http://identifiers.org/clinvar/293264 ^@ NM_004550.4(NDUFS2):c.-298C>G http://identifiers.org/clinvar/294203 ^@ NM_031935.2(HMCN1):c.8939A>C (p.Asn2980Thr) http://identifiers.org/clinvar/293314 ^@ NM_000530.7(MPZ):c.77C>T (p.Pro26Leu) http://identifiers.org/clinvar/294403 ^@ NM_003748.3(ALDH4A1):c.-169dupT http://identifiers.org/clinvar/294603 ^@ NM_018136.4(ASPM):c.9151C>T (p.Arg3051Trp) http://identifiers.org/clinvar/294653 ^@ NM_018136.4(ASPM):c.1467A>G (p.Arg489=) http://identifiers.org/clinvar/294703 ^@ NM_000069.2(CACNA1S):c.*87G>A http://identifiers.org/clinvar/294753 ^@ NM_000069.2(CACNA1S):c.1903A>G (p.Met635Val) http://identifiers.org/clinvar/295053 ^@ NM_005216.4(DDOST):c.*319G>A http://identifiers.org/clinvar/294903 ^@ NM_003465.2(CHIT1):c.*280G>C http://identifiers.org/clinvar/343345 ^@ NM_014382.3(ATP2C1):c.*1214A>G http://identifiers.org/clinvar/343495 ^@ NM_024334.2(TMEM43):c.-175G>A http://identifiers.org/clinvar/343545 ^@ NM_024334.2(TMEM43):c.*1836A>G http://identifiers.org/clinvar/343695 ^@ NM_032383.4(HPS3):c.884+11_884+12insT http://identifiers.org/clinvar/343745 ^@ NM_032383.4(HPS3):c.*920T>C http://identifiers.org/clinvar/343895 ^@ NM_005677.3(COLQ):c.-121_-120dupGC http://identifiers.org/clinvar/344045 ^@ NM_001041.3(SI):c.2381G>T (p.Gly794Val) http://identifiers.org/clinvar/344245 ^@ NM_181426.1(CCDC39):c.*531_*532dupCC http://identifiers.org/clinvar/344395 ^@ NM_003722.4(TP63):c.*232T>C http://identifiers.org/clinvar/344545 ^@ NM_000461.4(THRB):c.*4988T>C http://identifiers.org/clinvar/345434 ^@ NM_020208.3(SLC6A20):c.-102C>A http://identifiers.org/clinvar/344595 ^@ NM_000461.4(THRB):c.*2332G>A http://identifiers.org/clinvar/345584 ^@ NM_002222.5(ITPR1):c.930G>A (p.Thr310=) http://identifiers.org/clinvar/345734 ^@ NM_002222.5(ITPR1):c.4155G>C (p.Leu1385=) http://identifiers.org/clinvar/345934 ^@ NM_000387.5(SLC25A20):c.*476G>T http://identifiers.org/clinvar/346084 ^@ NM_153281.1(HYAL1):c.1175C>T (p.Thr392Met) http://identifiers.org/clinvar/346234 ^@ NM_003392.4(WNT5A):c.*2485A>G http://identifiers.org/clinvar/346284 ^@ NM_003865.2(HESX1):c.*192T>A http://identifiers.org/clinvar/345284 ^@ NM_016006.4(ABHD5):c.*4147G>T http://identifiers.org/clinvar/345334 ^@ NM_002222.5(ITPR1):c.-143C>A http://identifiers.org/clinvar/345484 ^@ NM_024513.3(FYCO1):c.*505A>G http://identifiers.org/clinvar/346684 ^@ NM_002942.4(ROBO2):c.1157C>T (p.Ala386Val) http://identifiers.org/clinvar/346734 ^@ NM_002942.4(ROBO2):c.*1290G>T http://identifiers.org/clinvar/345784 ^@ NM_002222.5(ITPR1):c.7488T>C (p.Asp2496=) http://identifiers.org/clinvar/342556 ^@ NM_198196.2(CD96):c.*531A>G http://identifiers.org/clinvar/345834 ^@ NM_000094.3(COL7A1):c.5590G>A (p.Ala1864Thr) http://identifiers.org/clinvar/342845 ^@ NM_053025.3(MYLK):c.*765dupA http://identifiers.org/clinvar/346034 ^@ NM_000481.3(AMT):c.471+12_471+13delCT http://identifiers.org/clinvar/346334 ^@ NM_001457.3(FLNB):c.3583G>A (p.Val1195Met) http://identifiers.org/clinvar/346434 ^@ NM_198859.3(PRICKLE2):c.*2891C>T http://identifiers.org/clinvar/343445 ^@ NM_001063.3(TF):c.1602C>T (p.Tyr534=) http://identifiers.org/clinvar/346484 ^@ NM_198859.3(PRICKLE2):c.-287A>G http://identifiers.org/clinvar/346584 ^@ NM_032682.5(FOXP1):c.*2575C>T http://identifiers.org/clinvar/348273 ^@ NM_001151.3(SLC25A4):c.*2438_*2439delCT http://identifiers.org/clinvar/348323 ^@ NM_207352.3(CYP4V2):c.*715C>T http://identifiers.org/clinvar/346784 ^@ NM_000158.3(GBE1):c.1874T>G (p.Phe625Cys) http://identifiers.org/clinvar/343845 ^@ NM_005677.3(COLQ):c.*4C>T http://identifiers.org/clinvar/348373 ^@ NM_000128.3(F11):c.345T>C (p.Tyr115=) http://identifiers.org/clinvar/353661 ^@ NM_000436.3(OXCT1):c.956-15A>G http://identifiers.org/clinvar/354111 ^@ NM_022132.4(MCCC2):c.*577T>A http://identifiers.org/clinvar/353911 ^@ NM_001104631.1(PDE4D):c.*5241T>C http://identifiers.org/clinvar/358590 ^@ NM_000108.4(DLD):c.*1724C>G http://identifiers.org/clinvar/354161 ^@ NM_003719.3(PDE8B):c.1317G>A (p.Pro439=) http://identifiers.org/clinvar/354211 ^@ NM_003719.3(PDE8B):c.*1606T>C http://identifiers.org/clinvar/354361 ^@ NM_002454.2(MTRR):c.1182C>G (p.Asp394Glu) http://identifiers.org/clinvar/354311 ^@ NM_000046.3(ARSB):c.790C>A (p.His264Asn) http://identifiers.org/clinvar/358940 ^@ NM_018718.2(CEP41):c.1004G>A (p.Arg335Lys) http://identifiers.org/clinvar/358990 ^@ NM_005989.3(AKR1D1):c.*1282G>A http://identifiers.org/clinvar/354611 ^@ NM_000439.4(PCSK1):c.*2019A>G http://identifiers.org/clinvar/354511 ^@ NM_002890.2(RASA1):c.612T>C (p.Tyr204=) http://identifiers.org/clinvar/359040 ^@ NM_020632.2(ATP6V0A4):c.-248G>A http://identifiers.org/clinvar/354761 ^@ NM_020381.3(PDSS2):c.*544dupT http://identifiers.org/clinvar/362999 ^@ NM_000037.3(ANK1):c.3984+9A>G http://identifiers.org/clinvar/363099 ^@ NM_006749.4(SLC20A2):c.-305G>A http://identifiers.org/clinvar/359340 ^@ NM_016203.3(PRKAG2):c.*135T>C http://identifiers.org/clinvar/359440 ^@ NM_022458.3(LMBR1):c.16G>A (p.Glu6Lys) http://identifiers.org/clinvar/363449 ^@ NM_017780.3(CHD7):c.2012C>T (p.Pro671Leu) http://identifiers.org/clinvar/359590 ^@ NM_001101426.3(ISPD):c.442A>C (p.Lys148Gln) http://identifiers.org/clinvar/359640 ^@ NM_001277115.1(DNAH11):c.6152C>T (p.Thr2051Met) http://identifiers.org/clinvar/360040 ^@ NM_000823.3(GHRHR):c.*198C>A http://identifiers.org/clinvar/364288 ^@ NM_000035.3(ALDOB):c.*1151A>G http://identifiers.org/clinvar/355651 ^@ NM_003764.3(STX11):c.*3345T>C http://identifiers.org/clinvar/364738 ^@ NM_012210.3(TRIM32):c.*1207A>G http://identifiers.org/clinvar/356101 ^@ NM_000367.4(TPMT):c.*1177G>A http://identifiers.org/clinvar/356151 ^@ NM_001080.3(ALDH5A1):c.*563G>A http://identifiers.org/clinvar/356051 ^@ NM_003730.4(RNASET2):c.-321G>T http://identifiers.org/clinvar/356401 ^@ NM_080680.2(COL11A2):c.2215-11A>G http://identifiers.org/clinvar/365188 ^@ NM_001130438.2(SPTAN1):c.*155G>A http://identifiers.org/clinvar/365238 ^@ NM_000113.2(TOR1A):c.-52T>G http://identifiers.org/clinvar/356551 ^@ NM_182548.3(LHFPL5):c.*827G>T http://identifiers.org/clinvar/356601 ^@ NM_005943.5(MOCS1):c.*2204C>T http://identifiers.org/clinvar/365288 ^@ NM_007171.3(POMT1):c.*182T>C http://identifiers.org/clinvar/365388 ^@ NM_000368.4(TSC1):c.*4631delT http://identifiers.org/clinvar/365438 ^@ NM_000368.4(TSC1):c.*2708G>C http://identifiers.org/clinvar/356501 ^@ NM_182548.3(LHFPL5):c.*423_*428delTACACA http://identifiers.org/clinvar/356751 ^@ NM_000322.4(PRPH2):c.*1313G>A http://identifiers.org/clinvar/356951 ^@ NM_006502.2(POLH):c.*1846G>A http://identifiers.org/clinvar/356801 ^@ NM_000287.3(PEX6):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/357051 ^@ NM_020745.3(AARS2):c.*279G>A http://identifiers.org/clinvar/357001 ^@ NM_006502.2(POLH):c.*4734G>A http://identifiers.org/clinvar/357201 ^@ NM_012120.2(CD2AP):c.*510_*511delAT http://identifiers.org/clinvar/367128 ^@ NM_004972.3(JAK2):c.2196G>A (p.Leu732=) http://identifiers.org/clinvar/366678 ^@ NM_012144.3(DNAI1):c.-180G>A http://identifiers.org/clinvar/311418 ^@ NM_002010.2(FGF9):c.-116dupC http://identifiers.org/clinvar/366828 ^@ NM_005476.5(GNE):c.*719_*724delAATAAT http://identifiers.org/clinvar/311518 ^@ NM_014363.5(SACS):c.8379G>A (p.Gln2793=) http://identifiers.org/clinvar/366928 ^@ NM_203447.3(DOCK8):c.2740G>A (p.Ala914Thr) http://identifiers.org/clinvar/311618 ^@ NM_018451.4(CENPJ):c.2298T>A (p.Asp766Glu) http://identifiers.org/clinvar/303530 ^@ NM_016952.4(CDON):c.-61-15delC http://identifiers.org/clinvar/303580 ^@ NM_000220.4(KCNJ1):c.-105G>A http://identifiers.org/clinvar/311718 ^@ NM_004795.3(KL):c.*722T>C http://identifiers.org/clinvar/367028 ^@ NM_004170.5(SLC1A1):c.-211C>T http://identifiers.org/clinvar/311968 ^@ NM_207361.5(FREM2):c.3794A>G (p.Tyr1265Cys) http://identifiers.org/clinvar/367228 ^@ NM_004817.3(TJP2):c.2775G>A (p.Thr925=) http://identifiers.org/clinvar/364188 ^@ NM_004612.3(TGFBR1):c.*4565T>C http://identifiers.org/clinvar/303980 ^@ NM_006757.3(TNNT3):c.*62G>T http://identifiers.org/clinvar/367457 ^@ NM_058179.3(PSAT1):c.571-4dupT http://identifiers.org/clinvar/367657 ^@ NM_000264.3(PTCH1):c.*623C>T http://identifiers.org/clinvar/298881 ^@ NM_007373.3(SHOC2):c.*1324G>A http://identifiers.org/clinvar/299331 ^@ NM_001081.3(CUBN):c.*564G>C http://identifiers.org/clinvar/304869 ^@ NM_002334.3(LRP4):c.3608C>T (p.Ala1203Val) http://identifiers.org/clinvar/299381 ^@ NM_001081.3(CUBN):c.9418G>A (p.Ala3140Thr) http://identifiers.org/clinvar/299531 ^@ NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) http://identifiers.org/clinvar/299631 ^@ NM_178161.2(PTF1A):c.*160_*162delGAT http://identifiers.org/clinvar/305421 ^@ NM_053054.3(CATSPER1):c.1954G>A (p.Val652Ile) http://identifiers.org/clinvar/299431 ^@ NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) http://identifiers.org/clinvar/314517 ^@ NM_013382.5(POMT2):c.*1756C>T http://identifiers.org/clinvar/314567 ^@ NM_013382.5(POMT2):c.-142C>T http://identifiers.org/clinvar/314617 ^@ NM_004863.3(SPTLC2):c.*2936_*2938dupTGG http://identifiers.org/clinvar/299581 ^@ NM_201590.2(CACNB2):c.*217C>T http://identifiers.org/clinvar/305721 ^@ NM_003977.3(AIP):c.-12C>G http://identifiers.org/clinvar/305771 ^@ NM_002496.3(NDUFS8):c.502-10C>T http://identifiers.org/clinvar/299681 ^@ NM_017433.4(MYO3A):c.*2C>G http://identifiers.org/clinvar/314867 ^@ NM_006329.3(FBLN5):c.*363C>T http://identifiers.org/clinvar/305821 ^@ NM_006019.3(TCIRG1):c.2333C>T (p.Ala778Val) http://identifiers.org/clinvar/315017 ^@ NM_000295.4(SERPINA1):c.*400C>T http://identifiers.org/clinvar/305921 ^@ NM_012309.4(SHANK2):c.385G>A (p.Val129Met) http://identifiers.org/clinvar/315067 ^@ NM_177438.2(DICER1):c.*2359_*2360delTC http://identifiers.org/clinvar/315417 ^@ NM_144599.4(NIPA1):c.*287T>C http://identifiers.org/clinvar/315817 ^@ NM_002225.3(IVD):c.*1005T>C http://identifiers.org/clinvar/315917 ^@ NM_138477.2(CDAN1):c.*58G>A http://identifiers.org/clinvar/309674 ^@ NM_002272.3(KRT4):c.1192C>T (p.His398Tyr) http://identifiers.org/clinvar/315217 ^@ NM_139057.3(ADAMTS17):c.*692G>C http://identifiers.org/clinvar/317757 ^@ NM_004862.3(LITAF):c.*1251A>G http://identifiers.org/clinvar/311268 ^@ NM_000504.3(F10):c.57G>A (p.Leu19=) http://identifiers.org/clinvar/317857 ^@ NM_005236.2(ERCC4):c.*2513C>A http://identifiers.org/clinvar/317907 ^@ NM_001287.5(CLCN7):c.*1497dupG http://identifiers.org/clinvar/311318 ^@ NM_021954.3(GJA3):c.*647G>A http://identifiers.org/clinvar/317957 ^@ NM_001287.5(CLCN7):c.696C>T (p.Ser232=) http://identifiers.org/clinvar/329829 ^@ NM_002103.4(GYS1):c.235C>T (p.Leu79=) http://identifiers.org/clinvar/329879 ^@ NM_030973.3(MED25):c.354C>T (p.Leu118=) http://identifiers.org/clinvar/310174 ^@ NM_002076.3(GNS):c.*2447G>A http://identifiers.org/clinvar/311818 ^@ NM_001127217.2(SMAD9):c.*3560_*3565delTACACA http://identifiers.org/clinvar/330379 ^@ NM_000208.3(INSR):c.*2793C>A http://identifiers.org/clinvar/330479 ^@ NM_000208.3(INSR):c.262T>C (p.Leu88=) http://identifiers.org/clinvar/330579 ^@ NM_030957.3(ADAMTS10):c.3102G>A (p.Thr1034=) http://identifiers.org/clinvar/318948 ^@ NM_000294.2(PHKG2):c.*2147G>A http://identifiers.org/clinvar/319098 ^@ NM_000243.2(MEFV):c.*475A>G http://identifiers.org/clinvar/319248 ^@ NM_032575.2(GLIS2):c.*887G>C http://identifiers.org/clinvar/310868 ^@ NM_004115.3(FGF14):c.*1259C>T http://identifiers.org/clinvar/319398 ^@ NM_024589.2(ROGDI):c.822+14G>A http://identifiers.org/clinvar/311018 ^@ NM_001845.5(COL4A1):c.*6C>G http://identifiers.org/clinvar/311118 ^@ NM_001846.3(COL4A2):c.1094C>T (p.Pro365Leu) http://identifiers.org/clinvar/319649 ^@ NM_015272.4(RPGRIP1L):c.3578C>T (p.Pro1193Leu) http://identifiers.org/clinvar/319749 ^@ NM_004530.5(MMP2):c.658+13C>T http://identifiers.org/clinvar/338415 ^@ NM_005461.4(MAFB):c.-138G>T http://identifiers.org/clinvar/338465 ^@ NM_000457.4(HNF4A):c.*2153T>C http://identifiers.org/clinvar/311368 ^@ NM_004004.5(GJB2):c.*412A>C http://identifiers.org/clinvar/311468 ^@ NM_002010.2(FGF9):c.*2463dupT http://identifiers.org/clinvar/320049 ^@ NM_001297.4(CNGB1):c.*235G>C http://identifiers.org/clinvar/320099 ^@ NM_001297.4(CNGB1):c.1101_1103dupGGA (p.Glu371_Val372insGlu) http://identifiers.org/clinvar/338816 ^@ NM_000782.4(CYP24A1):c.1124C>T (p.Pro375Leu) http://identifiers.org/clinvar/320349 ^@ NM_001605.2(AARS):c.806C>G (p.Ala269Gly) http://identifiers.org/clinvar/338966 ^@ NM_004738.4(VAPB):c.*3027A>G http://identifiers.org/clinvar/339016 ^@ NM_004738.4(VAPB):c.*5832G>A http://identifiers.org/clinvar/320449 ^@ NM_001361.4(DHODH):c.*574G>T http://identifiers.org/clinvar/339116 ^@ NM_207034.2(EDN3):c.-164G>A http://identifiers.org/clinvar/320599 ^@ NM_021615.4(CHST6):c.*139A>G http://identifiers.org/clinvar/311868 ^@ NM_001127217.2(SMAD9):c.*948A>G http://identifiers.org/clinvar/311918 ^@ NM_001127217.2(SMAD9):c.-261_-259dupCGC http://identifiers.org/clinvar/312118 ^@ NM_207361.5(FREM2):c.*6104G>A http://identifiers.org/clinvar/339866 ^@ NM_001754.4(RUNX1):c.*429T>C http://identifiers.org/clinvar/340016 ^@ NM_020639.2(RIPK4):c.1941G>A (p.Thr647=) http://identifiers.org/clinvar/340066 ^@ NM_024022.2(TMPRSS3):c.-178A>C http://identifiers.org/clinvar/321592 ^@ NM_000833.4(GRIN2A):c.*542_*544delCTT http://identifiers.org/clinvar/321642 ^@ NM_002472.2(MYH8):c.2791G>A (p.Glu931Lys) http://identifiers.org/clinvar/321692 ^@ NM_017534.5(MYH2):c.1227C>T (p.Val409=) http://identifiers.org/clinvar/321842 ^@ NM_001303.3(COX10):c.*1367G>A http://identifiers.org/clinvar/326451 ^@ NM_177986.4(DSG4):c.2735G>A (p.Gly912Asp) http://identifiers.org/clinvar/368007 ^@ NM_000133.3(F9):c.*476C>A http://identifiers.org/clinvar/327390 ^@ NM_000140.3(FECH):c.*1622T>C http://identifiers.org/clinvar/327490 ^@ NM_005603.4(ATP8B1):c.1029+5T>C http://identifiers.org/clinvar/327590 ^@ NM_133459.3(CCBE1):c.*4773C>G http://identifiers.org/clinvar/327740 ^@ NM_003839.3(TNFRSF11A):c.*214G>A http://identifiers.org/clinvar/327840 ^@ NM_005786.5(TSHZ1):c.2272T>C (p.Tyr758His) http://identifiers.org/clinvar/328040 ^@ NM_001128849.1(SMARCA4):c.4389C>T (p.Arg1463=) http://identifiers.org/clinvar/329979 ^@ NM_030657.3(LIM2):c.-7+14G>A http://identifiers.org/clinvar/330029 ^@ NM_144687.3(NLRP12):c.1996T>C (p.Tyr666His) http://identifiers.org/clinvar/330229 ^@ NM_001015878.1(AURKC):c.351C>T (p.Tyr117=) http://identifiers.org/clinvar/328340 ^@ NM_024407.4(NDUFS7):c.*18_*20delCCG http://identifiers.org/clinvar/330279 ^@ NM_000064.3(C3):c.4631-8C>T http://identifiers.org/clinvar/328390 ^@ NM_000435.2(NOTCH3):c.4071C>T (p.Pro1357=) http://identifiers.org/clinvar/330329 ^@ NM_000064.3(C3):c.1119+15G>A http://identifiers.org/clinvar/328490 ^@ NM_000215.3(JAK3):c.*299C>T http://identifiers.org/clinvar/328840 ^@ NM_004646.3(NPHS1):c.*1119A>C http://identifiers.org/clinvar/338065 ^@ NM_015338.5(ASXL1):c.-223A>T http://identifiers.org/clinvar/338115 ^@ NM_015338.5(ASXL1):c.3914T>A (p.Phe1305Tyr) http://identifiers.org/clinvar/338215 ^@ NM_003098.2(SNTA1):c.1118G>A (p.Arg373His) http://identifiers.org/clinvar/338715 ^@ NM_006420.2(ARFGEF2):c.*494G>A http://identifiers.org/clinvar/329729 ^@ NM_000554.5(CRX):c.*908G>A http://identifiers.org/clinvar/338866 ^@ NM_002591.3(PCK1):c.-64C>T http://identifiers.org/clinvar/339066 ^@ NM_001001433.2(STX16):c.*441C>G http://identifiers.org/clinvar/329929 ^@ NM_024729.3(MYH14):c.3136C>T (p.Arg1046Trp) http://identifiers.org/clinvar/339366 ^@ NM_025219.2(DNAJC5):c.*286G>A http://identifiers.org/clinvar/339416 ^@ NM_025219.2(DNAJC5):c.*2913G>A http://identifiers.org/clinvar/339616 ^@ NM_000933.3(PLCB4):c.*1672delT http://identifiers.org/clinvar/339666 ^@ NM_000454.4(SOD1):c.-48T>A http://identifiers.org/clinvar/340606 ^@ NM_014339.6(IL17RA):c.2071G>A (p.Ala691Thr) http://identifiers.org/clinvar/338565 ^@ NM_001250.5(CD40):c.-69delT http://identifiers.org/clinvar/340756 ^@ NM_017929.5(PEX26):c.889C>T (p.Arg297Cys) http://identifiers.org/clinvar/338916 ^@ NM_002591.3(PCK1):c.*431T>C http://identifiers.org/clinvar/341006 ^@ NM_022081.5(HPS4):c.1543T>C (p.Cys515Arg) http://identifiers.org/clinvar/341106 ^@ NM_000268.3(NF2):c.*1270T>C http://identifiers.org/clinvar/339216 ^@ NM_017671.4(FERMT1):c.1415C>T (p.Ser472Leu) http://identifiers.org/clinvar/339466 ^@ NM_012469.3(PRPF6):c.616-10T>G http://identifiers.org/clinvar/341456 ^@ NM_004737.5(LARGE1):c.-543C>T http://identifiers.org/clinvar/339516 ^@ NM_015192.3(PLCB1):c.3278+13T>C http://identifiers.org/clinvar/341706 ^@ NM_022098.3(XPNPEP3):c.*1803dupT http://identifiers.org/clinvar/392535 ^@ NM_017617.4(NOTCH1):c.383G>A (p.Arg128His) http://identifiers.org/clinvar/385508 ^@ NM_007327.3(GRIN1):c.2412C>G (p.Ala804=) http://identifiers.org/clinvar/377721 ^@ NM_000093.4(COL5A1):c.1774-7C>A http://identifiers.org/clinvar/380661 ^@ NM_032578.3(MYPN):c.3228G>T (p.Leu1076=) http://identifiers.org/clinvar/383155 ^@ NM_007078.2(LDB3):c.-43T>C http://identifiers.org/clinvar/382566 ^@ NM_203447.3(DOCK8):c.2346C>T (p.Ser782=) http://identifiers.org/clinvar/385658 ^@ NM_000051.3(ATM):c.2913A>G (p.Lys971=) http://identifiers.org/clinvar/378568 ^@ NM_003002.3(SDHD):c.140A>G (p.Gln47Arg) http://identifiers.org/clinvar/379720 ^@ NM_033056.3(PCDH15):c.1997+1G>A http://identifiers.org/clinvar/378467 ^@ NM_000448.2(RAG1):c.251A>G (p.His84Arg) http://identifiers.org/clinvar/385358 ^@ NM_005609.3(PYGM):c.2199C>T (p.Tyr733=) http://identifiers.org/clinvar/379070 ^@ NM_004519.3(KCNQ3):c.99G>A (p.Ala33=) http://identifiers.org/clinvar/385158 ^@ NM_005609.3(PYGM):c.390G>A (p.Ala130=) http://identifiers.org/clinvar/388547 ^@ NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=) http://identifiers.org/clinvar/379420 ^@ NM_001080463.1(DYNC2H1):c.4728C>G (p.Asn1576Lys) http://identifiers.org/clinvar/385708 ^@ NM_000445.4(PLEC):c.792C>T (p.Asp264=) http://identifiers.org/clinvar/387747 ^@ NM_024740.2(ALG9):c.1356A>G (p.Glu452=) http://identifiers.org/clinvar/380913 ^@ NM_004408.3(DNM1):c.1062C>T (p.Tyr354=) http://identifiers.org/clinvar/388197 ^@ NM_005609.3(PYGM):c.981C>T (p.Phe327=) http://identifiers.org/clinvar/384608 ^@ NM_001843.3(CNTN1):c.1251G>T (p.Met417Ile) http://identifiers.org/clinvar/382215 ^@ NM_001012302.2(ANO9):c.1246C>T (p.Arg416Ter) http://identifiers.org/clinvar/381513 ^@ NM_130799.2(MEN1):c.825-10C>G http://identifiers.org/clinvar/393235 ^@ NM_004990.3(MARS):c.2570G>A (p.Arg857Gln) http://identifiers.org/clinvar/388147 ^@ NM_001876.3(CPT1A):c.1353-4G>A http://identifiers.org/clinvar/387097 ^@ NM_020822.2(KCNT1):c.2008+19G>A http://identifiers.org/clinvar/386947 ^@ NM_006231.3(POLE):c.6072C>T (p.Pro2024=) http://identifiers.org/clinvar/386797 ^@ NM_020822.2(KCNT1):c.3066C>T (p.Tyr1022=) http://identifiers.org/clinvar/385758 ^@ NM_170665.3(ATP2A2):c.1847C>T (p.Ala616Val) http://identifiers.org/clinvar/379520 ^@ NM_001376.4(DYNC1H1):c.12192G>T (p.Thr4064=) http://identifiers.org/clinvar/385108 ^@ NM_005249.4(FOXG1):c.171C>A (p.His57Gln) http://identifiers.org/clinvar/381363 ^@ NM_000136.2(FANCC):c.457-12T>A http://identifiers.org/clinvar/378970 ^@ NM_000314.6(PTEN):c.635-18A>G http://identifiers.org/clinvar/387847 ^@ NM_000059.3(BRCA2):c.3903T>C (p.Thr1301=) http://identifiers.org/clinvar/381113 ^@ NM_000051.3(ATM):c.3480G>T (p.Val1160=) http://identifiers.org/clinvar/377521 ^@ NM_000051.3(ATM):c.8082A>C (p.Gly2694=) http://identifiers.org/clinvar/383055 ^@ NM_020751.2(COG6):c.369+13G>A http://identifiers.org/clinvar/388397 ^@ NM_000051.3(ATM):c.8786+11T>G http://identifiers.org/clinvar/384808 ^@ NM_001171.5(ABCC6):c.1263C>T (p.Thr421=) http://identifiers.org/clinvar/387797 ^@ NM_000138.4(FBN1):c.3635G>C (p.Cys1212Ser) http://identifiers.org/clinvar/378668 ^@ NM_004863.3(SPTLC2):c.*6T>C http://identifiers.org/clinvar/388297 ^@ NM_002968.2(SALL1):c.3157A>C (p.Met1053Leu) http://identifiers.org/clinvar/387497 ^@ NM_020778.4(ALPK3):c.4137C>T (p.Asp1379=) http://identifiers.org/clinvar/381213 ^@ NM_001013703.3(EIF2AK4):c.1321A>C (p.Ile441Leu) http://identifiers.org/clinvar/392885 ^@ NM_001482.2(GATM):c.649A>G (p.Thr217Ala) http://identifiers.org/clinvar/381613 ^@ NM_000138.4(FBN1):c.461G>C (p.Cys154Ser) http://identifiers.org/clinvar/378770 ^@ NM_000548.4(TSC2):c.-34G>A http://identifiers.org/clinvar/383517 ^@ NM_002435.2(MPI):c.555T>C (p.His185=) http://identifiers.org/clinvar/381013 ^@ NM_000548.4(TSC2):c.2639+14C>G http://identifiers.org/clinvar/381413 ^@ NM_018127.6(ELAC2):c.2130C>T (p.Ser710=) http://identifiers.org/clinvar/47523 ^@ NM_133378.4(TTN):c.8467G>T (p.Val2823Phe) http://identifiers.org/clinvar/47573 ^@ NM_133378.4(TTN):c.89214C>T (p.Ile29738=) http://identifiers.org/clinvar/47623 ^@ NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) http://identifiers.org/clinvar/47673 ^@ NM_133378.4(TTN):c.9674A>G (p.Asn3225Ser) http://identifiers.org/clinvar/47723 ^@ NM_001256850.1(TTN):c.102777A>G (p.Glu34259=) http://identifiers.org/clinvar/48517 ^@ NM_206933.2(USH2A):c.4532C>T (p.Ala1511Val) http://identifiers.org/clinvar/134 ^@ NM_001128228.2(TPRN):c.1239G>A (p.Trp413Ter) http://identifiers.org/clinvar/221 ^@ NM_000027.3(AGA):c.916T>C (p.Cys306Arg) http://identifiers.org/clinvar/230 ^@ NM_001914.3(CYB5A):c.130-2A>G http://identifiers.org/clinvar/317 ^@ NM_000552.4(VWF):c.3178T>C (p.Cys1060Arg) http://identifiers.org/clinvar/368 ^@ NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) http://identifiers.org/clinvar/396 ^@ NM_019892.5(INPP5E):c.1879C>T (p.Gln627Ter) http://identifiers.org/clinvar/679 ^@ NM_000312.3(PROC):c.446A>C (p.His149Pro) http://identifiers.org/clinvar/720 ^@ NM_001109809.2(ZFP57):c.829C>A (p.His277Asn) http://identifiers.org/clinvar/953 ^@ NM_000275.2(OCA2):c.1842+1G>T http://identifiers.org/clinvar/1385 ^@ NM_001142301.1(TMEM67):c.2218G>C (p.Gly740Arg) http://identifiers.org/clinvar/1430 ^@ NM_001177317.1(SLC34A3):c.228delC (p.Cys77Alafs) http://identifiers.org/clinvar/1476 ^@ HMBS, IVS14DS, G-A, +1 http://identifiers.org/clinvar/1521 ^@ nsv513798 http://identifiers.org/clinvar/1567 ^@ NM_000263.3(NAGLU):c.1693C>T (p.Arg565Trp) http://identifiers.org/clinvar/1611 ^@ NC_000014.9:g.(50000000_?)_(?_50247254)del http://identifiers.org/clinvar/1661 ^@ NM_000785.3(CYP27B1):c.1144C>T (p.Pro382Ser) http://identifiers.org/clinvar/1706 ^@ ERCC6, 2-BP DEL, 3794AA http://identifiers.org/clinvar/1753 ^@ NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) http://identifiers.org/clinvar/1802 ^@ NM_000102.3(CYP17A1):c.287G>A (p.Arg96Gln) http://identifiers.org/clinvar/1848 ^@ NM_138701.3(MPLKIP):c.148_152delCACAC (p.His50Alafs) http://identifiers.org/clinvar/1893 ^@ NM_015488.4(PNKD):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/1938 ^@ NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys) http://identifiers.org/clinvar/1983 ^@ ADA, IVS11AS, 31701T-A AND 11-BP DEL, NT31702 http://identifiers.org/clinvar/2027 ^@ NM_017780.3(CHD7):c.6955C>A (p.Arg2319Ser) http://identifiers.org/clinvar/2072 ^@ NM_020435.3(GJC2):c.268C>T (p.Pro90Ser) http://identifiers.org/clinvar/2118 ^@ NM_003477.2(PDHX):c.742C>T (p.Gln248Ter) http://identifiers.org/clinvar/2164 ^@ NM_213599.2(ANO5):c.191dupA (p.Asn64Lysfs) http://identifiers.org/clinvar/2255 ^@ NM_000265.5(NCF1):c.574G>A (p.Gly192Ser) http://identifiers.org/clinvar/2346 ^@ NM_016341.3(PLCE1):c.3346C>T (p.Arg1116Ter) http://identifiers.org/clinvar/2392 ^@ ARG1, 1-BP DEL, 842C http://identifiers.org/clinvar/2437 ^@ NM_001173464.1(KIF21A):c.2861G>A (p.Arg954Gln) http://identifiers.org/clinvar/2482 ^@ NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) http://identifiers.org/clinvar/2529 ^@ NM_144596.3(TTC8):c.1049+2_1049+4delTGC http://identifiers.org/clinvar/3215 ^@ NM_001079802.1(FKTN):c.1112A>G (p.Tyr371Cys) http://identifiers.org/clinvar/3264 ^@ NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) http://identifiers.org/clinvar/3309 ^@ NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) http://identifiers.org/clinvar/3354 ^@ NM_004698.2(PRPF3):c.1466C>A (p.Ala489Asp) http://identifiers.org/clinvar/10153 ^@ NM_000132.3(F8):c.77T>G (p.Leu26Arg) http://identifiers.org/clinvar/10199 ^@ NM_000132.3(F8):c.980T>C (p.Leu327Pro) http://identifiers.org/clinvar/10243 ^@ F8, 3-BP DEL, PHE652DEL http://identifiers.org/clinvar/10289 ^@ NM_000132.3(F8):c.5618C>G (p.Pro1873Arg) http://identifiers.org/clinvar/10333 ^@ NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) http://identifiers.org/clinvar/10750 ^@ GLA, 1-BP DEL, NT716 http://identifiers.org/clinvar/11443 ^@ NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) http://identifiers.org/clinvar/12139 ^@ NM_000148.3(FUT1):c.948C>G (p.Tyr316Ter) http://identifiers.org/clinvar/12193 ^@ HSD3B2, 1-BP DEL, 867G http://identifiers.org/clinvar/12245 ^@ NM_004360.4(CDH1):c.1018A>G (p.Thr340Ala) http://identifiers.org/clinvar/12295 ^@ NM_007122.4(USF1):c.561-100G>A http://identifiers.org/clinvar/12347 ^@ NM_000546.5(TP53):c.742C>T (p.Arg248Trp) http://identifiers.org/clinvar/12398 ^@ NM_000548.4(TSC2):c.2150T>G (p.Leu717Arg) http://identifiers.org/clinvar/12450 ^@ NM_152263.3(TPM3):c.503G>A (p.Arg168His) http://identifiers.org/clinvar/12500 ^@ NM_000359.2(TGM1):c.652G>A (p.Gly218Ser) http://identifiers.org/clinvar/12651 ^@ NM_001256850.1(TTN):c.2926T>C (p.Trp976Arg) http://identifiers.org/clinvar/12702 ^@ NM_003235.4(TG):c.3229T>C (p.Cys1077Arg) http://identifiers.org/clinvar/12753 ^@ NM_000073.2(CD3G):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/12803 ^@ NM_004959.4(NR5A1):c.1310T>A (p.Leu437Gln) http://identifiers.org/clinvar/12853 ^@ NM_003126.2(SPTA1):c.83G>T (p.Arg28Leu) http://identifiers.org/clinvar/12904 ^@ NM_003041.3(SLC5A2):c.1320G>A (p.Trp440Ter) http://identifiers.org/clinvar/12954 ^@ NM_001035.2(RYR2):c.6737C>T (p.Ser2246Leu) http://identifiers.org/clinvar/13005 ^@ NM_021133.3(RNASEL):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/13056 ^@ NM_000539.3(RHO):c.1033G>A (p.Val345Met) http://identifiers.org/clinvar/13107 ^@ NM_000283.3(PDE6B):c.772C>A (p.His258Asn) http://identifiers.org/clinvar/13209 ^@ NM_003018.3(SFTPC):c.500G>A (p.Arg167Gln) http://identifiers.org/clinvar/13260 ^@ EPHA2, 2-BP DEL, 2915TG http://identifiers.org/clinvar/13311 ^@ NM_000506.3(F2):c.1027G>A (p.Glu343Lys) http://identifiers.org/clinvar/13361 ^@ NM_001042465.2(PSAP):c.650C>T (p.Thr217Ile) http://identifiers.org/clinvar/13415 ^@ NM_000311.4(PRNP):c.313C>T (p.Pro105Ser) http://identifiers.org/clinvar/13467 ^@ TTR, ALA25THR http://identifiers.org/clinvar/13517 ^@ NM_000297.3(PKD2):c.1139G>A (p.Trp380Ter) http://identifiers.org/clinvar/36640 ^@ NM_000257.3(MYH7):c.3972+62_3972+63insC http://identifiers.org/clinvar/36692 ^@ NM_000535.6(PMS2):c.705+17A>G http://identifiers.org/clinvar/36745 ^@ NM_001035.2(RYR2):c.5586C>T (p.Asp1862=) http://identifiers.org/clinvar/36796 ^@ NM_000545.6(HNF1A):c.1129delC (p.Leu377Serfs) http://identifiers.org/clinvar/36846 ^@ NM_000458.3(HNF1B):c.344G>A (p.Ser115Asn) http://identifiers.org/clinvar/36897 ^@ NM_014000.2(VCL):c.339G>A (p.Arg113=) http://identifiers.org/clinvar/36966 ^@ NM_002501.3(NFIX):c.179T>C (p.Leu60Pro) http://identifiers.org/clinvar/37070 ^@ NM_004960.3(FUS):c.868C>T (p.Gln290Ter) http://identifiers.org/clinvar/37135 ^@ NM_022787.3(NMNAT1):c.817A>G (p.Asn273Asp) http://identifiers.org/clinvar/37286 ^@ NM_005534.3(IFNGR2):c.382_387dupACAATG (p.Met129_Pro130insThrMet) http://identifiers.org/clinvar/37357 ^@ NM_000155.3(GALT):c.394C>T (p.His132Tyr) http://identifiers.org/clinvar/37422 ^@ NM_007294.3(BRCA1):c.161A>G (p.Gln54Arg) http://identifiers.org/clinvar/37474 ^@ NM_007294.3(BRCA1):c.2515delC (p.His839Thrfs) http://identifiers.org/clinvar/37532 ^@ NM_007294.3(BRCA1):c.3503delA (p.Asn1168Metfs) http://identifiers.org/clinvar/37585 ^@ NM_007294.3(BRCA1):c.4357+6T>C http://identifiers.org/clinvar/37637 ^@ NM_007294.3(BRCA1):c.5114T>C (p.Leu1705Pro) http://identifiers.org/clinvar/37693 ^@ NM_007294.3(BRCA1):c.676delT (p.Cys226Valfs) http://identifiers.org/clinvar/37745 ^@ NM_000059.3(BRCA2):c.1550A>G (p.Asn517Ser) http://identifiers.org/clinvar/37798 ^@ NM_000059.3(BRCA2):c.2716A>G (p.Thr906Ala) http://identifiers.org/clinvar/37850 ^@ NM_000059.3(BRCA2):c.3658T>C (p.Tyr1220His) http://identifiers.org/clinvar/37902 ^@ NM_000059.3(BRCA2):c.4415_4418delAGAA (p.Lys1472Thrfs) http://identifiers.org/clinvar/37956 ^@ NM_000059.3(BRCA2):c.5290_5291delTC (p.Ser1764Lysfs) http://identifiers.org/clinvar/38008 ^@ NM_000059.3(BRCA2):c.5909C>T (p.Ser1970Leu) http://identifiers.org/clinvar/38063 ^@ NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) http://identifiers.org/clinvar/38113 ^@ NM_000059.3(BRCA2):c.7673_7674delAG (p.Glu2558Valfs) http://identifiers.org/clinvar/38163 ^@ NM_000059.3(BRCA2):c.8487+8G>A http://identifiers.org/clinvar/38213 ^@ NM_000059.3(BRCA2):c.9116C>G (p.Pro3039Arg) http://identifiers.org/clinvar/38263 ^@ NM_000059.3(BRCA2):c.9730G>T (p.Val3244Phe) http://identifiers.org/clinvar/38325 ^@ NM_000168.5(GLI3):c.3456G>T (p.Glu1152Asp) http://identifiers.org/clinvar/38382 ^@ NM_005211.3(CSF1R):c.2603T>C (p.Leu868Pro) http://identifiers.org/clinvar/39237 ^@ NM_198578.3(LRRK2):c.7186_7187dupGT (p.Met2397Terfs) http://identifiers.org/clinvar/39288 ^@ NR_001566.1(TERC):n.2G>C http://identifiers.org/clinvar/39450 ^@ NM_007101.3(SARDH):c.2167C>T (p.Arg723Ter) http://identifiers.org/clinvar/39502 ^@ CYP2U1, 13-BP DEL, NT61 http://identifiers.org/clinvar/39552 ^@ NM_001004434.2(SLC30A2):c.161A>G (p.His54Arg) http://identifiers.org/clinvar/39603 ^@ NM_014254.2(TMEM5):c.795delG (p.Arg266Glyfs) http://identifiers.org/clinvar/39654 ^@ NM_001904.3(CTNNB1):c.1272_1275delTTCT (p.Ser425Thrfs) http://identifiers.org/clinvar/39706 ^@ NM_006218.3(PIK3CA):c.1357_1359delGAA (p.Glu453del) http://identifiers.org/clinvar/39757 ^@ NM_006888.4(CALM1):c.161A>T (p.Asn54Ile) http://identifiers.org/clinvar/39807 ^@ NM_004055.4(CAPN5):c.731T>C (p.Leu244Pro) http://identifiers.org/clinvar/39858 ^@ SMCHD1, IVS29DS, G-A, +1 http://identifiers.org/clinvar/40042 ^@ NM_005609.3(PYGM):c.152A>G (p.Asp51Gly) http://identifiers.org/clinvar/40188 ^@ NM_000108.4(DLD):c.140T>C (p.Ile47Thr) http://identifiers.org/clinvar/40333 ^@ NM_004333.4(BRAF):c.36G>A (p.Ala12=) http://identifiers.org/clinvar/40405 ^@ NM_005188.3(CBL):c.1199T>G (p.Met400Arg) http://identifiers.org/clinvar/40473 ^@ NM_002524.4(NRAS):c.175G>A (p.Ala59Thr) http://identifiers.org/clinvar/40533 ^@ NM_002834.4(PTPN11):c.854T>G (p.Phe285Cys) http://identifiers.org/clinvar/40594 ^@ NM_002880.3(RAF1):c.524A>G (p.His175Arg) http://identifiers.org/clinvar/40660 ^@ NM_005633.3(SOS1):c.749T>C (p.Val250Ala) http://identifiers.org/clinvar/40748 ^@ NM_002755.3(MAP2K1):c.396G>A (p.Ala132=) http://identifiers.org/clinvar/40846 ^@ NM_030662.3(MAP2K2):c.1194C>T (p.Thr398=) http://identifiers.org/clinvar/41018 ^@ NM_000530.7(MPZ):c.266T>C (p.Ile89Thr) http://identifiers.org/clinvar/41074 ^@ NM_003611.2(OFD1):c.1322_1326delAAGAA (p.Lys441Argfs) http://identifiers.org/clinvar/41130 ^@ NM_003611.2(OFD1):c.615_620delAGAAAT (p.Ile207_Glu208del) http://identifiers.org/clinvar/41182 ^@ NM_003977.3(AIP):c.468+1G>A http://identifiers.org/clinvar/41240 ^@ NM_007055.3(POLR3A):c.1114G>A (p.Asp372Asn) http://identifiers.org/clinvar/51142 ^@ NM_000059.3(BRCA2):c.1552G>C (p.Ala518Pro) http://identifiers.org/clinvar/51193 ^@ NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) http://identifiers.org/clinvar/51246 ^@ NM_000059.3(BRCA2):c.2122T>A (p.Ser708Thr) http://identifiers.org/clinvar/51296 ^@ NM_000059.3(BRCA2):c.2483A>G (p.Tyr828Cys) http://identifiers.org/clinvar/51347 ^@ NM_000059.3(BRCA2):c.2798_2799delCA (p.Thr933Argfs) http://identifiers.org/clinvar/51397 ^@ NM_000059.3(BRCA2):c.3088T>G (p.Phe1030Val) http://identifiers.org/clinvar/51449 ^@ NM_000059.3(BRCA2):c.3319C>T (p.Gln1107Ter) http://identifiers.org/clinvar/51500 ^@ NM_000059.3(BRCA2):c.3655T>C (p.Phe1219Leu) http://identifiers.org/clinvar/51550 ^@ NM_000059.3(BRCA2):c.3871C>T (p.Gln1291Ter) http://identifiers.org/clinvar/51602 ^@ NM_000059.3(BRCA2):c.4133_4136delCTCA (p.Thr1378Argfs) http://identifiers.org/clinvar/51654 ^@ NM_000059.3(BRCA2):c.4480dupA (p.Ser1494Lysfs) http://identifiers.org/clinvar/51706 ^@ NM_000059.3(BRCA2):c.473C>T (p.Ser158Leu) http://identifiers.org/clinvar/51756 ^@ NM_000059.3(BRCA2):c.5020A>G (p.Ser1674Gly) http://identifiers.org/clinvar/51808 ^@ NM_000059.3(BRCA2):c.5182G>A (p.Asp1728Asn) http://identifiers.org/clinvar/51861 ^@ NM_000059.3(BRCA2):c.5433_5436delGGAA (p.Glu1811Aspfs) http://identifiers.org/clinvar/54153 ^@ NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) http://identifiers.org/clinvar/54354 ^@ NM_007294.3(BRCA1):c.1800C>G (p.Ile600Met) http://identifiers.org/clinvar/54405 ^@ NM_007294.3(BRCA1):c.1936delA (p.Ser646Alafs) http://identifiers.org/clinvar/54455 ^@ NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn) http://identifiers.org/clinvar/54505 ^@ NM_007294.3(BRCA1):c.2218G>C (p.Val740Leu) http://identifiers.org/clinvar/54555 ^@ NM_007294.3(BRCA1):c.2393delC (p.Pro798Glnfs) http://identifiers.org/clinvar/54605 ^@ NM_007294.3(BRCA1):c.2568T>C (p.Tyr856=) http://identifiers.org/clinvar/54655 ^@ NM_007294.3(BRCA1):c.2713C>T (p.Gln905Ter) http://identifiers.org/clinvar/54705 ^@ NM_007294.3(BRCA1):c.2870dupA (p.Phe958Valfs) http://identifiers.org/clinvar/54755 ^@ NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) http://identifiers.org/clinvar/54805 ^@ NM_007294.3(BRCA1):c.3253dupA (p.Arg1085Lysfs) http://identifiers.org/clinvar/54855 ^@ NM_007294.3(BRCA1):c.3355A>T (p.Thr1119Ser) http://identifiers.org/clinvar/54905 ^@ NM_007294.3(BRCA1):c.3508A>T (p.Ile1170Phe) http://identifiers.org/clinvar/54957 ^@ NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) http://identifiers.org/clinvar/55008 ^@ NM_007294.3(BRCA1):c.3794delA (p.Asn1265Ilefs) http://identifiers.org/clinvar/55058 ^@ NM_007294.3(BRCA1):c.3952A>G (p.Ile1318Val) http://identifiers.org/clinvar/55109 ^@ NM_007294.3(BRCA1):c.412_418delCTACAGA (p.Leu138Valfs) http://identifiers.org/clinvar/55160 ^@ NM_007294.3(BRCA1):c.4282_4283delAG (p.Ser1428Leufs) http://identifiers.org/clinvar/55211 ^@ NM_007294.3(BRCA1):c.4484+1delG http://identifiers.org/clinvar/55261 ^@ NM_007294.3(BRCA1):c.4685C>T (p.Pro1562Leu) http://identifiers.org/clinvar/55312 ^@ NM_007294.3(BRCA1):c.4905_4906delGA (p.Lys1636Alafs) http://identifiers.org/clinvar/55362 ^@ NM_007294.3(BRCA1):c.5045A>T (p.Glu1682Val) http://identifiers.org/clinvar/55515 ^@ NM_007294.3(BRCA1):c.5310G>A (p.Gly1770=) http://identifiers.org/clinvar/55565 ^@ NM_007294.3(BRCA1):c.5406+5G>C http://identifiers.org/clinvar/55615 ^@ NM_007294.3(BRCA1):c.5531T>G (p.Leu1844Arg) http://identifiers.org/clinvar/55667 ^@ NM_007294.3(BRCA1):c.68_69dupAG (p.Cys24Serfs) http://identifiers.org/clinvar/55718 ^@ NM_007294.3(BRCA1):c.81-6T>A http://identifiers.org/clinvar/55769 ^@ NM_007294.3(BRCA1):c.97G>C (p.Glu33Gln) http://identifiers.org/clinvar/55847 ^@ NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) http://identifiers.org/clinvar/55919 ^@ NM_001482.2(GATM):c.505C>T (p.Arg169Ter) http://identifiers.org/clinvar/56639 ^@ NM_017890.4(VPS13B):c.11598delA (p.Glu3867Lysfs) http://identifiers.org/clinvar/56689 ^@ NM_017890.4(VPS13B):c.7610G>A (p.Trp2537Ter) http://identifiers.org/clinvar/56739 ^@ NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) http://identifiers.org/clinvar/56808 ^@ NM_015352.1(POFUT1):c.430G>T (p.Glu144Ter) http://identifiers.org/clinvar/56998 ^@ GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 http://identifiers.org/clinvar/57051 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 http://identifiers.org/clinvar/57107 ^@ GRCh38/hg38 15q21.2(chr15:50756382-50978175)x1 http://identifiers.org/clinvar/57159 ^@ GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 http://identifiers.org/clinvar/57210 ^@ GRCh38/hg38 11q13.2(chr11:67590733-67698250)x3 http://identifiers.org/clinvar/57263 ^@ GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 http://identifiers.org/clinvar/57316 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1 http://identifiers.org/clinvar/57370 ^@ GRCh38/hg38 9q22.33-31.1(chr9:99465640-100281736)x1 http://identifiers.org/clinvar/101187 ^@ NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val) http://identifiers.org/clinvar/101237 ^@ NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg) http://identifiers.org/clinvar/101287 ^@ NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu) http://identifiers.org/clinvar/101337 ^@ NM_000090.3(COL3A1):c.2824-1G>A (p.Gly942Glufs*294) http://identifiers.org/clinvar/101387 ^@ NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del) http://identifiers.org/clinvar/101437 ^@ NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu) http://identifiers.org/clinvar/101487 ^@ NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu) http://identifiers.org/clinvar/102444 ^@ KRT85, 2-BP DEL, 1448CT http://identifiers.org/clinvar/102500 ^@ NM_000277.1(PAH):c.1063C>T (p.Gln355Ter) http://identifiers.org/clinvar/102558 ^@ NM_000277.1(PAH):c.1199+20G>C http://identifiers.org/clinvar/102609 ^@ NM_000277.1(PAH):c.168G>A (p.Glu56=) http://identifiers.org/clinvar/102664 ^@ NM_000277.1(PAH):c.400C>T (p.Gln134Ter) http://identifiers.org/clinvar/102715 ^@ NM_000277.1(PAH):c.510T>A (p.His170Gln) http://identifiers.org/clinvar/102765 ^@ NM_000277.1(PAH):c.620A>G (p.Asn207Ser) http://identifiers.org/clinvar/102816 ^@ NM_000277.1(PAH):c.739G>C (p.Gly247Arg) http://identifiers.org/clinvar/102866 ^@ NM_000277.1(PAH):c.839A>G (p.Glu280Gly) http://identifiers.org/clinvar/102918 ^@ NM_000277.1(PAH):c.970-2A>C http://identifiers.org/clinvar/102976 ^@ NC_000016.10:g.56989205C>T http://identifiers.org/clinvar/103026 ^@ NM_001033053.2(NLRP1):c.3796-240C>G http://identifiers.org/clinvar/103076 ^@ NM_001199138.1(NLRC4):c.2-130C>G http://identifiers.org/clinvar/103376 ^@ NM_178844.3(NLRC3):c.613A>G (p.Ser205Gly) http://identifiers.org/clinvar/111250 ^@ NM_005534.3(IFNGR2):c.708A>T (p.Glu236Asp) http://identifiers.org/clinvar/120186 ^@ NM_004990.3(MARS):c.13G>A (p.Val5Met) http://identifiers.org/clinvar/120262 ^@ NM_000277.1(PAH):c.1180G>T (p.Asp394Tyr) http://identifiers.org/clinvar/120312 ^@ NM_024605.3(ARHGAP10):c.822C>T (p.Val274=) http://identifiers.org/clinvar/126495 ^@ NM_005654.5(NR2F1):c.755T>C (p.Leu252Pro) http://identifiers.org/clinvar/126576 ^@ NM_024675.3(PALB2):c.-359G>C http://identifiers.org/clinvar/126626 ^@ NM_024675.3(PALB2):c.1881G>T (p.Val627=) http://identifiers.org/clinvar/126678 ^@ NM_024675.3(PALB2):c.2749-18C>T http://identifiers.org/clinvar/126728 ^@ NM_024675.3(PALB2):c.3252G>A (p.Ser1084=) http://identifiers.org/clinvar/126779 ^@ NM_024675.3(PALB2):c.90G>T (p.Lys30Asn) http://identifiers.org/clinvar/126830 ^@ NM_000321.2(RB1):c.1147dupC (p.Gln383Profs) http://identifiers.org/clinvar/126884 ^@ NM_017545.2(HAO1):c.545+1171T>C http://identifiers.org/clinvar/126939 ^@ NM_001127464.2(ZNF469):c.2699C>G (p.Pro900Arg) http://identifiers.org/clinvar/126989 ^@ NM_000249.3(MLH1):c.2180A>T (p.His727Leu) http://identifiers.org/clinvar/127039 ^@ NM_020661.3(AICDA):c.210A>G (p.Leu70=) http://identifiers.org/clinvar/127096 ^@ NM_000856.5(GUCY1A3):c.1170delA (p.Glu391Lysfs) http://identifiers.org/clinvar/127163 ^@ NM_001101.3(ACTB):c.220G>A (p.Gly74Ser) http://identifiers.org/clinvar/127262 ^@ NM_001127255.1(NLRP7):c.516C>T (p.Tyr172=) http://identifiers.org/clinvar/127313 ^@ NM_000038.5(APC):c.6473C>G (p.Pro2158Arg) http://identifiers.org/clinvar/127363 ^@ NM_000051.3(ATM):c.2944C>T (p.Arg982Cys) http://identifiers.org/clinvar/127413 ^@ NM_000051.3(ATM):c.5882A>G (p.Tyr1961Cys) http://identifiers.org/clinvar/127463 ^@ NM_000051.3(ATM):c.8786+1G>A http://identifiers.org/clinvar/127514 ^@ NM_000057.3(BLM):c.696C>A (p.Ser232Arg) http://identifiers.org/clinvar/127564 ^@ NM_000179.2(MSH6):c.1786T>A (p.Phe596Ile) http://identifiers.org/clinvar/127615 ^@ NM_000249.3(MLH1):c.1558+5G>A http://identifiers.org/clinvar/127671 ^@ NM_000314.6(PTEN):c.-713G>A http://identifiers.org/clinvar/127724 ^@ NM_000465.3(BARD1):c.1867G>C (p.Gly623Arg) http://identifiers.org/clinvar/127774 ^@ NM_000535.6(PMS2):c.212A>G (p.Asn71Ser) http://identifiers.org/clinvar/160949 ^@ GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 http://identifiers.org/clinvar/160999 ^@ GRCh38/hg38 6p25.3(chr6:259528-307998)x1 http://identifiers.org/clinvar/161050 ^@ GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 http://identifiers.org/clinvar/162074 ^@ NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015Ilefs) http://identifiers.org/clinvar/162130 ^@ NM_005211.3(CSF1R):c.2294G>A (p.Gly765Asp) http://identifiers.org/clinvar/162199 ^@ NM_003480.3(MFAP5):c.472C>T (p.Arg158Ter) http://identifiers.org/clinvar/162401 ^@ NM_001190799.1(PLK4):c.1203_1207delTAAAG (p.Phe401Leufs) http://identifiers.org/clinvar/162482 ^@ NM_004208.3(AIFM1):c.1492G>A (p.Val498Met) http://identifiers.org/clinvar/162548 ^@ NM_004369.3(COL6A3):c.4912G>A (p.Ala1638Thr) http://identifiers.org/clinvar/162628 ^@ NM_032018.6(SPRTN):c.723delA (p.Lys241Asnfs) http://identifiers.org/clinvar/162807 ^@ NM_057176.2(BSND):c.872A>G (p.Glu291Gly) http://identifiers.org/clinvar/180059 ^@ NM_206933.2(USH2A):c.13808A>G (p.His4603Arg) http://identifiers.org/clinvar/162741 ^@ NM_001103.3(ACTN2):c.2235A>G (p.Arg745=) http://identifiers.org/clinvar/179609 ^@ NM_133378.4(TTN):c.91586-6G>T http://identifiers.org/clinvar/165996 ^@ NM_133378.4(TTN):c.44522_44525delAAGA (p.Lys14841Thrfs) http://identifiers.org/clinvar/177799 ^@ NM_001103.3(ACTN2):c.783+22G>A http://identifiers.org/clinvar/179409 ^@ NM_133378.4(TTN):c.54038T>G (p.Val18013Gly) http://identifiers.org/clinvar/166133 ^@ NM_133378.4(TTN):c.24775G>A (p.Val8259Ile) http://identifiers.org/clinvar/166252 ^@ NM_133379.4(TTN):c.15585T>C (p.Tyr5195=) http://identifiers.org/clinvar/166302 ^@ NM_133378.4(TTN):c.8685G>T (p.Glu2895Asp) http://identifiers.org/clinvar/178758 ^@ NM_001369.2(DNAH5):c.624C>T (p.Asn208=) http://identifiers.org/clinvar/163068 ^@ NM_005219.4(DIAPH1):c.3054G>A (p.Thr1018=) http://identifiers.org/clinvar/179059 ^@ NM_133378.4(TTN):c.4874C>G (p.Ser1625Cys) http://identifiers.org/clinvar/163265 ^@ NM_004415.3(DSP):c.3630T>A (p.Tyr1210Ter) http://identifiers.org/clinvar/178590 ^@ NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) http://identifiers.org/clinvar/163120 ^@ NM_001277115.1(DNAH11):c.10441G>A (p.Glu3481Lys) http://identifiers.org/clinvar/163661 ^@ NM_001010931.2(HGF):c.873dupA (p.Ter291=) http://identifiers.org/clinvar/179359 ^@ NM_000441.1(SLC26A4):c.2242C>G (p.Leu748Val) http://identifiers.org/clinvar/177647 ^@ NM_005228.4(EGFR):c.2239_2256del18 (p.Leu747_Ser752del) http://identifiers.org/clinvar/179959 ^@ NM_001038603.2(MARVELD2):c.211A>G (p.Ile71Val) http://identifiers.org/clinvar/163564 ^@ NM_032119.3(ADGRV1):c.1837C>A (p.Gln613Lys) http://identifiers.org/clinvar/179159 ^@ NM_032119.3(ADGRV1):c.6559A>G (p.Ile2187Val) http://identifiers.org/clinvar/198446 ^@ NM_001039141.2(TRIOBP):c.3068C>T (p.Ala1023Val) http://identifiers.org/clinvar/198499 ^@ NM_003896.3(ST3GAL5):c.1212G>A (p.Glu404=) http://identifiers.org/clinvar/198551 ^@ NM_012338.3(TSPAN12):c.469-5dupT http://identifiers.org/clinvar/198603 ^@ NM_001122955.3(BSCL2):c.1005+4G>A http://identifiers.org/clinvar/198654 ^@ NM_033071.3(SYNE1):c.11787G>A (p.Ala3929=) http://identifiers.org/clinvar/198705 ^@ NM_000274.3(OAT):c.969C>T (p.Tyr323=) http://identifiers.org/clinvar/198760 ^@ NM_001031710.2(KLHL7):c.975delA (p.Lys325Asnfs) http://identifiers.org/clinvar/198811 ^@ NM_004560.3(ROR2):c.1339T>G (p.Ser447Ala) http://identifiers.org/clinvar/198867 ^@ NM_014795.3(ZEB2):c.2701C>T (p.Gln901Ter) http://identifiers.org/clinvar/200250 ^@ NM_000238.3(KCNH2):c.2904G>A (p.Pro968=) http://identifiers.org/clinvar/200674 ^@ NM_000238.3(KCNH2):c.2777delC (p.Pro926Argfs) http://identifiers.org/clinvar/200395 ^@ NM_000238.3(KCNH2):c.1913A>G (p.Lys638Arg) http://identifiers.org/clinvar/200557 ^@ NM_000238.3(KCNH2):c.167G>T (p.Arg56Leu) http://identifiers.org/clinvar/200912 ^@ NM_000218.2(KCNQ1):c.603_604+9delCGGTGAGTCAT http://identifiers.org/clinvar/200853 ^@ NM_000218.2(KCNQ1):c.1660G>A (p.Val554Met) http://identifiers.org/clinvar/200973 ^@ NM_130799.2(MEN1):c.515A>T (p.Asp172Val) http://identifiers.org/clinvar/200172 ^@ NM_000138.4(FBN1):c.7599delT (p.Leu2534Cysfs) http://identifiers.org/clinvar/200114 ^@ NM_000138.4(FBN1):c.7529A>G (p.Lys2510Arg) http://identifiers.org/clinvar/200060 ^@ NM_000138.4(FBN1):c.5208T>A (p.Cys1736Ter) http://identifiers.org/clinvar/200005 ^@ NM_000138.4(FBN1):c.2861G>A (p.Arg954His) http://identifiers.org/clinvar/201044 ^@ NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) http://identifiers.org/clinvar/232384 ^@ NM_005732.3(RAD50):c.3805C>T (p.His1269Tyr) http://identifiers.org/clinvar/230295 ^@ NM_002485.4(NBN):c.2008A>G (p.Arg670Gly) http://identifiers.org/clinvar/230945 ^@ NM_004329.2(BMPR1A):c.116C>T (p.Ser39Phe) http://identifiers.org/clinvar/230845 ^@ NM_000051.3(ATM):c.753G>A (p.Val251=) http://identifiers.org/clinvar/232184 ^@ NM_000051.3(ATM):c.3702T>G (p.Phe1234Leu) http://identifiers.org/clinvar/232284 ^@ NM_000051.3(ATM):c.3935dupG (p.Glu1313Argfs) http://identifiers.org/clinvar/229945 ^@ NM_000051.3(ATM):c.4437-5A>G http://identifiers.org/clinvar/230045 ^@ NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) http://identifiers.org/clinvar/232484 ^@ NM_000059.3(BRCA2):c.1107T>G (p.Asn369Lys) http://identifiers.org/clinvar/232034 ^@ NM_000059.3(BRCA2):c.2963A>C (p.Asp988Ala) http://identifiers.org/clinvar/230195 ^@ NM_000059.3(BRCA2):c.3698C>T (p.Ala1233Val) http://identifiers.org/clinvar/230545 ^@ NM_000059.3(BRCA2):c.7669G>A (p.Ala2557Thr) http://identifiers.org/clinvar/230495 ^@ NM_000059.3(BRCA2):c.9490A>G (p.Asn3164Asp) http://identifiers.org/clinvar/230995 ^@ NM_000059.3(BRCA2):c.9898C>A (p.Pro3300Thr) http://identifiers.org/clinvar/232084 ^@ NM_002382.4(MAX):c.467G>A (p.Arg156Gln) http://identifiers.org/clinvar/230395 ^@ NM_000548.4(TSC2):c.17G>A (p.Ser6Asn) http://identifiers.org/clinvar/232234 ^@ NM_004360.4(CDH1):c.366C>G (p.His122Gln) http://identifiers.org/clinvar/232434 ^@ NM_004360.4(CDH1):c.1090A>T (p.Thr364Ser) http://identifiers.org/clinvar/230245 ^@ NM_004360.4(CDH1):c.1893A>T (p.Thr631=) http://identifiers.org/clinvar/232635 ^@ NM_001042492.2(NF1):c.2158C>T (p.Arg720Trp) http://identifiers.org/clinvar/229695 ^@ NM_001042492.2(NF1):c.4357G>A (p.Val1453Ile) http://identifiers.org/clinvar/231984 ^@ NM_001042492.2(NF1):c.6666G>A (p.Thr2222=) http://identifiers.org/clinvar/231934 ^@ NM_032043.2(BRIP1):c.2492+5G>C http://identifiers.org/clinvar/230095 ^@ NM_032043.2(BRIP1):c.1594A>G (p.Met532Val) http://identifiers.org/clinvar/229895 ^@ NM_032043.2(BRIP1):c.626A>G (p.Lys209Arg) http://identifiers.org/clinvar/232334 ^@ NM_000455.4(STK11):c.1261_1262delAGinsCT (p.Ser421Leu) http://identifiers.org/clinvar/232685 ^@ NM_007194.3(CHEK2):c.1093A>G (p.Lys365Glu) http://identifiers.org/clinvar/230345 ^@ NM_007194.3(CHEK2):c.792+5G>A http://identifiers.org/clinvar/235187 ^@ NM_018946.3(NANS):c.452G>A (p.Arg151His) http://identifiers.org/clinvar/235251 ^@ NM_001303.3(COX10):c.1193G>A (p.Arg398His) http://identifiers.org/clinvar/235304 ^@ NM_005055.4(RAPSN):c.241T>C (p.Phe81Leu) http://identifiers.org/clinvar/235355 ^@ NM_005027.3(PIK3R2):c.1290+4C>T http://identifiers.org/clinvar/235410 ^@ NM_000026.3(ADSL):c.1342T>C (p.Ser448Pro) http://identifiers.org/clinvar/235465 ^@ NM_153818.1(PEX10):c.338delT (p.Leu113Argfs) http://identifiers.org/clinvar/235519 ^@ NM_005559.3(LAMA1):c.181G>A (p.Val61Ile) http://identifiers.org/clinvar/235570 ^@ NM_198576.3(AGRN):c.2690C>T (p.Ala897Val) http://identifiers.org/clinvar/235620 ^@ NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) http://identifiers.org/clinvar/235673 ^@ NC_012920.1:m.11167A>G http://identifiers.org/clinvar/235733 ^@ NC_012920.1:m.11560A>G http://identifiers.org/clinvar/235808 ^@ NM_000158.3(GBE1):c.1460A>G (p.Asp487Gly) http://identifiers.org/clinvar/235860 ^@ NM_000159.3(GCDH):c.999G>A (p.Gln333=) http://identifiers.org/clinvar/236044 ^@ NM_144612.6(LOXHD1):c.5894dupG (p.Gly1966Argfs) http://identifiers.org/clinvar/236144 ^@ NM_000350.2(ABCA4):c.6077T>C (p.Leu2026Pro) http://identifiers.org/clinvar/236094 ^@ NM_000350.2(ABCA4):c.2692G>T (p.Glu898Ter) http://identifiers.org/clinvar/236194 ^@ NM_003060.3(SLC22A5):c.1365dupC (p.Thr456Hisfs) http://identifiers.org/clinvar/236282 ^@ NM_000059.3(BRCA2):c.6825delG (p.Glu2275Aspfs) http://identifiers.org/clinvar/236333 ^@ NC_000016.8:g.5984488_6199853del215366 http://identifiers.org/clinvar/236383 ^@ NC_000016.9:g.6750250_7122374dup372125 http://identifiers.org/clinvar/236534 ^@ NM_206933.2(USH2A):c.4251+1G>A http://identifiers.org/clinvar/236434 ^@ NM_152443.2(RDH12):c.648_658+20del31 http://identifiers.org/clinvar/236484 ^@ NM_033028.4(BBS4):c.712-1G>A http://identifiers.org/clinvar/238230 ^@ NM_001035.2(RYR2):c.336A>G (p.Thr112=) http://identifiers.org/clinvar/241424 ^@ NM_022114.3(PRDM16):c.2130G>A (p.Gly710=) http://identifiers.org/clinvar/238830 ^@ NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) http://identifiers.org/clinvar/238780 ^@ NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser) http://identifiers.org/clinvar/238730 ^@ NM_001267550.2(TTN):c.27261A>G (p.Gly9087=) http://identifiers.org/clinvar/241974 ^@ NM_152383.4(DIS3L2):c.2329A>G (p.Ile777Val) http://identifiers.org/clinvar/239131 ^@ NM_002354.2(EPCAM):c.517C>T (p.Arg173Cys) http://identifiers.org/clinvar/237139 ^@ NM_000179.2(MSH6):c.155A>T (p.Glu52Val) http://identifiers.org/clinvar/237189 ^@ NM_000179.2(MSH6):c.3426G>A (p.Thr1142=) http://identifiers.org/clinvar/240974 ^@ NM_015120.4(ALMS1):c.10777A>C (p.Thr3593Pro) http://identifiers.org/clinvar/241224 ^@ NM_017849.3(TMEM127):c.494A>G (p.His165Arg) http://identifiers.org/clinvar/240674 ^@ NM_006514.3(SCN10A):c.4378C>T (p.Arg1460Trp) http://identifiers.org/clinvar/240274 ^@ NM_006030.3(CACNA2D2):c.115G>A (p.Gly39Arg) http://identifiers.org/clinvar/238580 ^@ NM_001148.4(ANK2):c.4152T>C (p.Asp1384=) http://identifiers.org/clinvar/238280 ^@ NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) http://identifiers.org/clinvar/240324 ^@ NM_006206.4(PDGFRA):c.2088C>T (p.His696=) http://identifiers.org/clinvar/236584 ^@ NM_000038.5(APC):c.3081T>C (p.Tyr1027=) http://identifiers.org/clinvar/236634 ^@ NM_000038.5(APC):c.6775A>G (p.Lys2259Glu) http://identifiers.org/clinvar/239081 ^@ NM_001999.3(FBN2):c.2674+10A>G http://identifiers.org/clinvar/240224 ^@ NM_005732.3(RAD50):c.2380A>G (p.Ile794Val) http://identifiers.org/clinvar/238980 ^@ NM_001369.2(DNAH5):c.5290T>C (p.Ser1764Pro) http://identifiers.org/clinvar/241374 ^@ NM_021147.4(CCNO):c.780C>T (p.Ala260=) http://identifiers.org/clinvar/238630 ^@ NM_001206927.1(DNAH8):c.11358C>T (p.Thr3786=) http://identifiers.org/clinvar/238930 ^@ NM_001277115.1(DNAH11):c.7140_7141delAT (p.Val2382Serfs) http://identifiers.org/clinvar/255794 ^@ NM_000297.3(PKD2):c.444C>T (p.Gly148=) http://identifiers.org/clinvar/262073 ^@ NM_032446.2(MEGF10):c.3003C>T (p.Ser1001=) http://identifiers.org/clinvar/263062 ^@ NM_182925.4(FLT4):c.445A>G (p.Asn149Asp) http://identifiers.org/clinvar/261673 ^@ NM_023073.3(C5orf42):c.5329G>A (p.Val1777Ile) http://identifiers.org/clinvar/256094 ^@ NM_000426.3(LAMA2):c.9211+21C>A http://identifiers.org/clinvar/259433 ^@ NM_004562.2(PRKN):c.413-20T>C http://identifiers.org/clinvar/256294 ^@ NM_000500.7(CYP21A2):c.550-15C>A http://identifiers.org/clinvar/261123 ^@ NM_019105.6(TNXB):c.12372C>T (p.Asp4124=) http://identifiers.org/clinvar/261173 ^@ NM_019105.6(TNXB):c.9044A>G (p.Lys3015Arg) http://identifiers.org/clinvar/255744 ^@ NM_000287.3(PEX6):c.882+15_882+16delTG http://identifiers.org/clinvar/258983 ^@ NM_003221.3(TFAP2B):c.*10A>T http://identifiers.org/clinvar/259333 ^@ NM_004370.5(COL12A1):c.4617G>A (p.Thr1539=) http://identifiers.org/clinvar/259383 ^@ NM_004415.3(DSP):c.3084+24T>G http://identifiers.org/clinvar/258533 ^@ NM_002047.3(GARS):c.1700-45T>C http://identifiers.org/clinvar/263112 ^@ NM_198428.2(BBS9):c.1029A>G (p.Gly343=) http://identifiers.org/clinvar/255444 ^@ NM_000168.5(GLI3):c.528C>G (p.Ile176Met) http://identifiers.org/clinvar/261973 ^@ NM_031443.3(CCM2):c.810C>G (p.Phe270Leu) http://identifiers.org/clinvar/260923 ^@ NM_017802.3(DNAAF5):c.1257+19G>T http://identifiers.org/clinvar/260273 ^@ NM_012472.5(LRRC6):c.1391C>T (p.Pro464Leu) http://identifiers.org/clinvar/259283 ^@ NM_004315.5(ASAH1):c.785T>C (p.Val262Ala) http://identifiers.org/clinvar/256644 ^@ NM_000550.2(TYRP1):c.259C>A (p.Arg87=) http://identifiers.org/clinvar/263262 ^@ NM_201590.2(CACNB2):c.295-17T>G http://identifiers.org/clinvar/260473 ^@ NM_014915.2(ANKRD26):c.624A>G (p.Val208=) http://identifiers.org/clinvar/262123 ^@ NM_032844.4(MASTL):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/260723 ^@ NM_016341.3(PLCE1):c.513G>A (p.Val171=) http://identifiers.org/clinvar/263312 ^@ NM_213599.2(ANO5):c.1631-35G>A http://identifiers.org/clinvar/256344 ^@ NM_000518.4(HBB):c.288G>A (p.Lys96=) http://identifiers.org/clinvar/258633 ^@ NM_002335.3(LRP5):c.1412+8G>A http://identifiers.org/clinvar/255494 ^@ NM_000192.3(TBX5):c.982+16C>T http://identifiers.org/clinvar/256594 ^@ NM_000545.6(HNF1A):c.1377G>A (p.Leu459=) http://identifiers.org/clinvar/261473 ^@ NM_021957.3(GYS2):c.942-17G>A http://identifiers.org/clinvar/256244 ^@ NM_000486.5(AQP2):c.39G>A (p.Val13=) http://identifiers.org/clinvar/256044 ^@ NM_000424.3(KRT5):c.556-15C>T http://identifiers.org/clinvar/258583 ^@ NM_002206.2(ITGA7):c.1609C>T (p.Arg537Trp) http://identifiers.org/clinvar/256694 ^@ NM_000552.4(VWF):c.6846A>G (p.Thr2282=) http://identifiers.org/clinvar/260373 ^@ NM_014254.2(TMEM5):c.*19_*20delAT http://identifiers.org/clinvar/261073 ^@ NM_018979.3(WNK1):c.5424G>T (p.Met1808Ile) http://identifiers.org/clinvar/261623 ^@ NM_022489.3(INF2):c.391+18A>T http://identifiers.org/clinvar/258833 ^@ NM_002863.4(PYGL):c.1536T>C (p.Tyr512=) http://identifiers.org/clinvar/260323 ^@ NM_014080.4(DUOX2):c.3200C>T (p.Ser1067Leu) http://identifiers.org/clinvar/334970 ^@ NM_000751.2(CHRND):c.1252+10C>T http://identifiers.org/clinvar/336159 ^@ NM_133259.3(LRPPRC):c.1677+11C>G http://identifiers.org/clinvar/333718 ^@ NM_001204.6(BMPR2):c.*6001T>C http://identifiers.org/clinvar/333818 ^@ NM_014929.3(FASTKD2):c.*627T>C http://identifiers.org/clinvar/335909 ^@ NM_000104.3(CYP1B1):c.*2499T>C http://identifiers.org/clinvar/336209 ^@ NM_000341.3(SLC3A1):c.1717T>C (p.Leu573=) http://identifiers.org/clinvar/334420 ^@ NM_025216.2(WNT10A):c.*216G>C http://identifiers.org/clinvar/334220 ^@ NM_173076.2(ABCA12):c.7496C>A (p.Thr2499Asn) http://identifiers.org/clinvar/334270 ^@ NM_173076.2(ABCA12):c.1186C>G (p.Leu396Val) http://identifiers.org/clinvar/342356 ^@ NM_016247.3(IMPG2):c.534-5dupT http://identifiers.org/clinvar/342406 ^@ NM_000551.3(VHL):c.*280A>G http://identifiers.org/clinvar/334720 ^@ NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) http://identifiers.org/clinvar/334770 ^@ NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) http://identifiers.org/clinvar/334870 ^@ NM_025243.3(SLC19A3):c.*300G>A http://identifiers.org/clinvar/334620 ^@ NM_003590.4(CUL3):c.*896G>C http://identifiers.org/clinvar/342706 ^@ NM_020754.3(ARHGAP31):c.*1811G>A http://identifiers.org/clinvar/342756 ^@ NM_000187.3(HGD):c.-100G>A http://identifiers.org/clinvar/334670 ^@ NM_000092.4(COL4A4):c.*2119_*2120dupAA http://identifiers.org/clinvar/342806 ^@ NM_000388.3(CASR):c.*60A>T http://identifiers.org/clinvar/342856 ^@ NM_053025.3(MYLK):c.*252T>C http://identifiers.org/clinvar/342906 ^@ NM_053025.3(MYLK):c.374-9T>C http://identifiers.org/clinvar/343006 ^@ NM_000373.3(UMPS):c.*3376C>T http://identifiers.org/clinvar/342306 ^@ NM_016247.3(IMPG2):c.*1447C>T http://identifiers.org/clinvar/334920 ^@ NM_004509.3(SP110):c.127A>G (p.Ile43Val) http://identifiers.org/clinvar/343156 ^@ NM_004637.5(RAB7A):c.-18A>G http://identifiers.org/clinvar/343206 ^@ NM_014049.4(ACAD9):c.1675C>A (p.Arg559Ser) http://identifiers.org/clinvar/342456 ^@ NM_000551.3(VHL):c.*1973_*1979delGTAATCC http://identifiers.org/clinvar/335020 ^@ NM_005199.4(CHRNG):c.*477C>A http://identifiers.org/clinvar/343506 ^@ NM_024334.2(TMEM43):c.346C>A (p.Arg116=) http://identifiers.org/clinvar/335809 ^@ NM_000348.3(SRD5A2):c.*614T>A http://identifiers.org/clinvar/343856 ^@ NM_004733.3(SLC33A1):c.*1619A>G http://identifiers.org/clinvar/335859 ^@ NM_014946.3(SPAST):c.*1410T>G http://identifiers.org/clinvar/336009 ^@ NM_005633.3(SOS1):c.*534C>T http://identifiers.org/clinvar/336109 ^@ NM_133259.3(LRPPRC):c.*1872C>T http://identifiers.org/clinvar/358451 ^@ NM_006348.3(COG5):c.2494T>C (p.Ser832Pro) http://identifiers.org/clinvar/358501 ^@ NM_000441.1(SLC26A4):c.2008G>A (p.Val670Ile) http://identifiers.org/clinvar/355412 ^@ NM_006208.2(ENPP1):c.*3163C>T http://identifiers.org/clinvar/355512 ^@ NM_017651.4(AHI1):c.73G>A (p.Asp25Asn) http://identifiers.org/clinvar/355562 ^@ NM_000416.2(IFNGR1):c.85+10T>C http://identifiers.org/clinvar/351935 ^@ NM_054027.4(ANKH):c.-276_-271delCCGCCG http://identifiers.org/clinvar/358901 ^@ NM_018718.2(CEP41):c.*3965A>G http://identifiers.org/clinvar/351685 ^@ NM_024577.3(SH3TC2):c.*12110dupA http://identifiers.org/clinvar/351785 ^@ NM_024577.3(SH3TC2):c.*6563_*6564delCT http://identifiers.org/clinvar/356162 ^@ NM_001080.3(ALDH5A1):c.*1239T>G http://identifiers.org/clinvar/356262 ^@ NM_000063.5(C2):c.*82C>T http://identifiers.org/clinvar/359890 ^@ NM_018947.5(CYCS):c.*3379C>T http://identifiers.org/clinvar/360240 ^@ NM_000168.5(GLI3):c.1958C>T (p.Pro653Leu) http://identifiers.org/clinvar/360390 ^@ NM_014855.2(AP5Z1):c.*1701C>T http://identifiers.org/clinvar/352922 ^@ NM_022455.4(NSD1):c.*3338A>C http://identifiers.org/clinvar/353422 ^@ NM_023073.3(C5orf42):c.8508A>G (p.Ser2836=) http://identifiers.org/clinvar/353622 ^@ NM_002310.5(LIFR):c.1915A>T (p.Met639Leu) http://identifiers.org/clinvar/358001 ^@ NM_004999.3(MYO6):c.*148T>C http://identifiers.org/clinvar/358051 ^@ NM_004999.3(MYO6):c.*3879G>A http://identifiers.org/clinvar/353472 ^@ NM_000514.3(GDNF):c.*2829_*2830delAC http://identifiers.org/clinvar/353872 ^@ NM_176806.3(MOCS2):c.*808A>G http://identifiers.org/clinvar/363849 ^@ NM_019098.4(CNGB3):c.*1368T>C http://identifiers.org/clinvar/363899 ^@ NM_002485.4(NBN):c.*1013G>A http://identifiers.org/clinvar/364049 ^@ NM_001001557.3(GDF6):c.741G>A (p.Ala247=) http://identifiers.org/clinvar/306546 ^@ NM_201278.2(MTMR2):c.-153-6_-153-2delTTTTA http://identifiers.org/clinvar/306596 ^@ NM_030962.3(SBF2):c.2598G>A (p.Pro866=) http://identifiers.org/clinvar/363999 ^@ NM_177965.3(C8orf37):c.528A>G (p.Thr176=) http://identifiers.org/clinvar/306796 ^@ NM_024312.4(GNPTAB):c.3335+11C>G http://identifiers.org/clinvar/306846 ^@ NM_000618.4(IGF1):c.*4980T>C http://identifiers.org/clinvar/364399 ^@ NM_005502.3(ABCA1):c.4698+7T>C http://identifiers.org/clinvar/364349 ^@ NM_005502.3(ABCA1):c.*1467A>T http://identifiers.org/clinvar/364649 ^@ NM_000031.5(ALAD):c.439C>T (p.Arg147Cys) http://identifiers.org/clinvar/364449 ^@ NM_005502.3(ABCA1):c.1028C>T (p.Ala343Val) http://identifiers.org/clinvar/307485 ^@ NM_002150.2(HPD):c.414G>A (p.Thr138=) http://identifiers.org/clinvar/364549 ^@ NM_003640.4(IKBKAP):c.*392A>G http://identifiers.org/clinvar/307585 ^@ NM_012463.3(ATP6V0A2):c.1039-14T>C http://identifiers.org/clinvar/364599 ^@ NM_005592.3(MUSK):c.233G>A (p.Arg78Gln) http://identifiers.org/clinvar/307735 ^@ NM_000834.3(GRIN2B):c.*25_*28delGGGT http://identifiers.org/clinvar/307785 ^@ NM_006205.2(PDE6H):c.*77C>G http://identifiers.org/clinvar/364699 ^@ NM_015404.3(WHRN):c.-23C>G http://identifiers.org/clinvar/307985 ^@ NM_021957.3(GYS2):c.*152C>T http://identifiers.org/clinvar/308035 ^@ NM_005691.3(ABCC9):c.2769+12T>C http://identifiers.org/clinvar/364849 ^@ NM_000550.2(TYRP1):c.-15C>G http://identifiers.org/clinvar/308435 ^@ NM_012062.4(DNM1L):c.*1980A>C http://identifiers.org/clinvar/308585 ^@ NM_017641.3(KIF21A):c.1160A>G (p.Asn387Ser) http://identifiers.org/clinvar/308685 ^@ NM_153026.2(PRICKLE1):c.*1047C>T http://identifiers.org/clinvar/365638 ^@ NM_000787.3(DBH):c.486+15C>T http://identifiers.org/clinvar/365738 ^@ NM_000093.4(COL5A1):c.*55G>A http://identifiers.org/clinvar/365538 ^@ NM_139025.4(ADAMTS13):c.775G>A (p.Gly259Ser) http://identifiers.org/clinvar/365688 ^@ NM_000787.3(DBH):c.*390G>A http://identifiers.org/clinvar/365788 ^@ NM_000093.4(COL5A1):c.*2175G>A http://identifiers.org/clinvar/309724 ^@ NM_015665.5(AAAS):c.1450C>G (p.Leu484Val) http://identifiers.org/clinvar/309774 ^@ NM_002206.2(ITGA7):c.*309A>G http://identifiers.org/clinvar/302241 ^@ NM_000051.3(ATM):c.-94G>A http://identifiers.org/clinvar/302341 ^@ NM_002906.3(RDX):c.*79A>C http://identifiers.org/clinvar/302391 ^@ NM_024740.2(ALG9):c.*2442delC http://identifiers.org/clinvar/366089 ^@ NM_144966.5(FREM1):c.*529C>T http://identifiers.org/clinvar/366139 ^@ NM_144966.5(FREM1):c.2795G>A (p.Arg932His) http://identifiers.org/clinvar/366189 ^@ NM_144966.5(FREM1):c.-582G>A http://identifiers.org/clinvar/310474 ^@ NM_024685.3(BBS10):c.*1051C>T http://identifiers.org/clinvar/366339 ^@ NM_003070.4(SMARCA2):c.*620T>C http://identifiers.org/clinvar/366739 ^@ NM_004629.1(FANCG):c.-182delG http://identifiers.org/clinvar/366789 ^@ NM_003995.3(NPR2):c.2261G>A (p.Arg754Gln) http://identifiers.org/clinvar/366839 ^@ NM_005476.5(GNE):c.*280_*282delATA http://identifiers.org/clinvar/366439 ^@ NM_000459.4(TEK):c.2322G>A (p.Arg774=) http://identifiers.org/clinvar/306696 ^@ NM_018979.3(WNK1):c.*1690T>C http://identifiers.org/clinvar/310729 ^@ NM_002108.3(HAL):c.-68G>A http://identifiers.org/clinvar/366939 ^@ NM_001042413.1(GLIS3):c.*1152T>G http://identifiers.org/clinvar/310779 ^@ NM_003276.2(TMPO):c.*354C>T http://identifiers.org/clinvar/366489 ^@ NM_001256054.2(C9orf72):c.*1024A>G http://identifiers.org/clinvar/302941 ^@ NM_015645.4(C1QTNF5):c.-414T>C http://identifiers.org/clinvar/310929 ^@ NM_000123.3(ERCC5):c.2208G>C (p.Leu736Phe) http://identifiers.org/clinvar/311029 ^@ NM_001845.5(COL4A1):c.4021+14T>A http://identifiers.org/clinvar/340516 ^@ NM_006031.5(PCNT):c.6416C>T (p.Thr2139Ile) http://identifiers.org/clinvar/340567 ^@ NM_014339.6(IL17RA):c.220A>G (p.Lys74Glu) http://identifiers.org/clinvar/340667 ^@ NM_014339.6(IL17RA):c.*2844A>G http://identifiers.org/clinvar/340817 ^@ NM_017929.5(PEX26):c.*2768C>T http://identifiers.org/clinvar/341217 ^@ NM_000355.3(TCN2):c.*82C>T http://identifiers.org/clinvar/322692 ^@ NM_145068.3(TRPV3):c.*2437A>G http://identifiers.org/clinvar/341267 ^@ NM_000343.3(SLC5A1):c.1938C>T (p.Asn646=) http://identifiers.org/clinvar/341317 ^@ NM_012179.3(FBXO7):c.1144+9C>T http://identifiers.org/clinvar/323192 ^@ NM_021939.3(FKBP10):c.1256+14G>C http://identifiers.org/clinvar/323242 ^@ NM_139276.2(STAT3):c.2091T>A (p.Ala697=) http://identifiers.org/clinvar/323292 ^@ NM_000263.3(NAGLU):c.-78C>G http://identifiers.org/clinvar/342156 ^@ NM_001953.4(TYMP):c.47G>C (p.Gly16Ala) http://identifiers.org/clinvar/323542 ^@ NM_000419.4(ITGA2B):c.2871G>A (p.Ser957=) http://identifiers.org/clinvar/316167 ^@ NM_014080.4(DUOX2):c.2335-3C>T http://identifiers.org/clinvar/368157 ^@ NM_000444.5(PHEX):c.-10G>T http://identifiers.org/clinvar/316317 ^@ NM_000138.4(FBN1):c.*1989C>T http://identifiers.org/clinvar/316417 ^@ NM_014985.3(CEP152):c.3324C>T (p.Asn1108=) http://identifiers.org/clinvar/316467 ^@ NM_031226.2(CYP19A1):c.*161T>G http://identifiers.org/clinvar/368757 ^@ NM_021998.4(ZNF711):c.*1260G>A http://identifiers.org/clinvar/317217 ^@ NM_000137.2(FAH):c.*51delC http://identifiers.org/clinvar/315567 ^@ NM_133647.1(SLC12A6):c.*2518dupC http://identifiers.org/clinvar/315617 ^@ NM_133647.1(SLC12A6):c.1097_1099delCTT (p.Ser366del) http://identifiers.org/clinvar/315967 ^@ NM_173500.3(TTBK2):c.*678A>G http://identifiers.org/clinvar/318109 ^@ NM_001143979.1(NDE1):c.948-3351T>C http://identifiers.org/clinvar/372062 ^@ NM_000077.4(CDKN2A):c.295C>G (p.Arg99Gly) http://identifiers.org/clinvar/371912 ^@ NM_006231.3(POLE):c.4291-11G>A http://identifiers.org/clinvar/371812 ^@ NM_007294.3(BRCA1):c.-20+103G>A http://identifiers.org/clinvar/371962 ^@ NM_000546.5(TP53):c.993+234G>A http://identifiers.org/clinvar/372012 ^@ NM_001256849.1(POLD1):c.1383+9G>C http://identifiers.org/clinvar/372112 ^@ NM_006412.3(AGPAT2):c.713C>G (p.Ala238Gly) http://identifiers.org/clinvar/372186 ^@ NM_002250.2(KCNN4):c.845T>A (p.Val282Glu) http://identifiers.org/clinvar/372242 ^@ NM_138773.3(SLC25A46):c.1018C>T (p.Arg340Cys) http://identifiers.org/clinvar/372865 ^@ NM_001165963.1(SCN1A):c.1261G>A (p.Val421Met) http://identifiers.org/clinvar/372348 ^@ NM_000094.3(COL7A1):c.7078G>A (p.Gly2360Arg) http://identifiers.org/clinvar/372506 ^@ NM_003060.3(SLC22A5):c.1078_1083dupGGGCTT (p.Leu361_Ser362insGlyLeu) http://identifiers.org/clinvar/372399 ^@ NM_194456.1(KRIT1):c.1524_1528delAAGAA (p.Arg510Cysfs) http://identifiers.org/clinvar/372296 ^@ NM_014384.2(ACAD8):c.567+1G>A http://identifiers.org/clinvar/372659 ^@ NM_000138.4(FBN1):c.4265A>G (p.Asn1422Ser) http://identifiers.org/clinvar/372558 ^@ NM_000138.4(FBN1):c.6086G>A (p.Cys2029Tyr) http://identifiers.org/clinvar/372712 ^@ NM_002294.2(LAMP2):c.1075C>T (p.Gln359Ter) http://identifiers.org/clinvar/372762 ^@ NM_002049.3(GATA1):c.622G>A (p.Gly208Arg) http://identifiers.org/clinvar/372813 ^@ NM_000489.4(ATRX):c.4509A>T (p.Arg1503Ser) http://identifiers.org/clinvar/372453 ^@ NM_000444.5(PHEX):c.503C>T (p.Pro168Leu) http://identifiers.org/clinvar/372608 ^@ NM_001399.4(EDA):c.769G>C (p.Gly257Arg) http://identifiers.org/clinvar/375430 ^@ NM_001453.2(FOXC1):c.925_949del25 (p.Ser309Cysfs) http://identifiers.org/clinvar/375497 ^@ NM_001005463.2(EBF3):c.422A>G (p.Tyr141Cys) http://identifiers.org/clinvar/375549 ^@ NM_001303052.1(MYT1L):c.1559T>C (p.Leu520Pro) http://identifiers.org/clinvar/375616 ^@ NM_006306.3(SMC1A):c.1388_1389insC (p.Glu464Glyfs) http://identifiers.org/clinvar/375667 ^@ NM_000524.3(HTR1A):c.-1019G>C http://identifiers.org/clinvar/375761 ^@ NM_015295.2(SMCHD1):c.1043A>G (p.His348Arg) http://identifiers.org/clinvar/375811 ^@ NM_000527.4(LDLR):c.1205T>C (p.Phe402Ser) http://identifiers.org/clinvar/375861 ^@ NM_013372.6(GREM1):c.169A>C (p.Asn57His) http://identifiers.org/clinvar/375914 ^@ NM_000222.2(KIT):c.1679T>A (p.Val560Asp) http://identifiers.org/clinvar/384969 ^@ NM_000251.2(MSH2):c.2520A>C (p.Val840=) http://identifiers.org/clinvar/392146 ^@ NM_000393.4(COL5A2):c.3705T>C (p.Asp1235=) http://identifiers.org/clinvar/378173 ^@ NM_000179.2(MSH6):c.4002-9A>T http://identifiers.org/clinvar/383768 ^@ NM_015120.4(ALMS1):c.2193C>T (p.Phe731=) http://identifiers.org/clinvar/389547 ^@ NM_015120.4(ALMS1):c.1250A>G (p.Gln417Arg) http://identifiers.org/clinvar/377921 ^@ NM_024996.5(GFM1):c.1494A>G (p.Glu498=) http://identifiers.org/clinvar/386358 ^@ NM_003849.3(SUCLG1):c.590-7C>T http://identifiers.org/clinvar/389597 ^@ NM_000551.3(VHL):c.-29C>A http://identifiers.org/clinvar/389297 ^@ NM_198056.2(SCN5A):c.4417T>C (p.Phe1473Leu) http://identifiers.org/clinvar/385858 ^@ NM_178862.2(STT3B):c.1764C>T (p.Tyr588=) http://identifiers.org/clinvar/387258 ^@ NM_178862.2(STT3B):c.1900-17T>G http://identifiers.org/clinvar/379131 ^@ NM_198056.2(SCN5A):c.5028G>A (p.Met1676Ile) http://identifiers.org/clinvar/389147 ^@ NM_198056.2(SCN5A):c.4125C>T (p.Tyr1375=) http://identifiers.org/clinvar/384318 ^@ NM_001148.4(ANK2):c.1673T>C (p.Leu558Ser) http://identifiers.org/clinvar/385119 ^@ NM_001148.4(ANK2):c.4710C>T (p.Thr1570=) http://identifiers.org/clinvar/377871 ^@ NM_001999.3(FBN2):c.7841-17C>T http://identifiers.org/clinvar/384519 ^@ NM_015120.4(ALMS1):c.11035C>T (p.Arg3679Trp) http://identifiers.org/clinvar/378073 ^@ NM_020117.10(LARS):c.595-19T>C http://identifiers.org/clinvar/378579 ^@ NM_024577.3(SH3TC2):c.2868A>G (p.Leu956=) http://identifiers.org/clinvar/383918 ^@ NM_004130.3(GYG1):c.137C>G (p.Ser46Cys) http://identifiers.org/clinvar/392496 ^@ NM_020117.10(LARS):c.126-17A>G http://identifiers.org/clinvar/388897 ^@ NM_002887.3(RARS):c.1428G>A (p.Lys476=) http://identifiers.org/clinvar/381174 ^@ NM_014244.4(ADAMTS2):c.1630-18T>C http://identifiers.org/clinvar/385019 ^@ NM_001085411.2(NADK2):c.-8G>A http://identifiers.org/clinvar/383116 ^@ NM_001458.4(FLNC):c.3852C>T (p.Gly1284=) http://identifiers.org/clinvar/388697 ^@ NM_033071.3(SYNE1):c.17973G>A (p.Ser5991=) http://identifiers.org/clinvar/386758 ^@ NM_024582.4(FAT4):c.4219G>A (p.Val1407Ile) http://identifiers.org/clinvar/384018 ^@ NM_004456.4(EZH2):c.2232C>T (p.Ile744=) http://identifiers.org/clinvar/380773 ^@ NM_152778.2(MFSD8):c.-58T>C http://identifiers.org/clinvar/378273 ^@ NM_198586.2(NHLRC1):c.-5G>A http://identifiers.org/clinvar/377771 ^@ NM_000108.4(DLD):c.-42C>T http://identifiers.org/clinvar/392296 ^@ NM_000535.6(PMS2):c.2140C>T (p.Gln714Ter) http://identifiers.org/clinvar/391896 ^@ NM_004415.3(DSP):c.961G>C (p.Val321Leu) http://identifiers.org/clinvar/383016 ^@ NM_000048.3(ASL):c.162C>T (p.Leu54=) http://identifiers.org/clinvar/392546 ^@ NM_000238.3(KCNH2):c.1652T>C (p.Phe551Ser) http://identifiers.org/clinvar/378428 ^@ NM_016203.3(PRKAG2):c.750C>T (p.Asp250=) http://identifiers.org/clinvar/384869 ^@ NM_001182.4(ALDH7A1):c.-30C>T http://identifiers.org/clinvar/382916 ^@ NM_032446.2(MEGF10):c.522G>A (p.Arg174=) http://identifiers.org/clinvar/383968 ^@ NM_000535.6(PMS2):c.243A>G (p.Glu81=) http://identifiers.org/clinvar/384569 ^@ NM_000443.3(ABCB4):c.1560+16A>G http://identifiers.org/clinvar/389497 ^@ NM_001101.3(ACTB):c.526C>T (p.Leu176=) http://identifiers.org/clinvar/380271 ^@ NM_001130438.2(SPTAN1):c.4905+7C>T http://identifiers.org/clinvar/387208 ^@ NM_002538.3(OCLN):c.-75G>A http://identifiers.org/clinvar/378981 ^@ NM_000368.4(TSC1):c.2641A>T (p.Lys881Ter) http://identifiers.org/clinvar/384368 ^@ NM_000368.4(TSC1):c.2391+17C>T http://identifiers.org/clinvar/392396 ^@ NM_014845.5(FIG4):c.730C>T (p.Arg244Cys) http://identifiers.org/clinvar/386058 ^@ NM_000118.3(ENG):c.291G>C (p.Leu97=) http://identifiers.org/clinvar/382866 ^@ NM_004408.3(DNM1):c.1905+17C>T http://identifiers.org/clinvar/381024 ^@ NM_004415.3(DSP):c.1068G>A (p.Thr356=) http://identifiers.org/clinvar/384268 ^@ NM_020822.2(KCNT1):c.1402-5G>A http://identifiers.org/clinvar/392046 ^@ NM_001130438.2(SPTAN1):c.5304C>T (p.Ser1768=) http://identifiers.org/clinvar/386458 ^@ NM_020822.2(KCNT1):c.3555G>A (p.Pro1185=) http://identifiers.org/clinvar/134918 ^@ NM_017617.4(NOTCH1):c.2495C>T (p.Pro832Leu) http://identifiers.org/clinvar/134968 ^@ NM_024408.3(NOTCH2):c.1396C>A (p.Gln466Lys) http://identifiers.org/clinvar/135018 ^@ NM_006206.4(PDGFRA):c.2899C>G (p.Leu967Val) http://identifiers.org/clinvar/135069 ^@ NM_000535.6(PMS2):c.379G>A (p.Ala127Thr) http://identifiers.org/clinvar/135120 ^@ NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) http://identifiers.org/clinvar/135171 ^@ NM_004260.3(RECQL4):c.1415C>T (p.Ala472Val) http://identifiers.org/clinvar/185343 ^@ NM_007294.3(BRCA1):c.5586C>T (p.His1862=) http://identifiers.org/clinvar/185243 ^@ NM_007294.3(BRCA1):c.4864A>G (p.Thr1622Ala) http://identifiers.org/clinvar/184693 ^@ NM_007294.3(BRCA1):c.3684C>T (p.His1228=) http://identifiers.org/clinvar/184743 ^@ NM_032043.2(BRIP1):c.3078A>G (p.Ser1026=) http://identifiers.org/clinvar/184943 ^@ NM_032043.2(BRIP1):c.1005G>A (p.Trp335Ter) http://identifiers.org/clinvar/184843 ^@ NM_000455.4(STK11):c.90C>T (p.Asp30=) http://identifiers.org/clinvar/184093 ^@ NM_007194.3(CHEK2):c.1581C>T (p.Ala527=) http://identifiers.org/clinvar/188230 ^@ NM_000312.3(PROC):c.169C>T (p.Arg57Trp) http://identifiers.org/clinvar/188393 ^@ NM_000179.2(MSH6):c.1108_1109delTT (p.Leu370Argfs) http://identifiers.org/clinvar/188336 ^@ NM_000264.3(PTCH1):c.2782A>G (p.Ser928Gly) http://identifiers.org/clinvar/188284 ^@ NM_000264.3(PTCH1):c.43_51delGGCGGCGGC (p.Gly15_Gly17del) http://identifiers.org/clinvar/188547 ^@ NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) http://identifiers.org/clinvar/188647 ^@ NM_000257.3(MYH7):c.5655+21C>T http://identifiers.org/clinvar/188597 ^@ NM_000257.3(MYH7):c.530+9A>T http://identifiers.org/clinvar/188697 ^@ NM_001018005.1(TPM1):c.560A>T (p.Glu187Val) http://identifiers.org/clinvar/188447 ^@ NM_001943.4(DSG2):c.523+24T>A http://identifiers.org/clinvar/188497 ^@ NM_001110792.1(MECP2):c.790_818del29 (p.Gly264Serfs) http://identifiers.org/clinvar/188797 ^@ NM_000152.4(GAA):c.925G>A (p.Gly309Arg) http://identifiers.org/clinvar/188747 ^@ NM_000271.4(NPC1):c.3614C>A (p.Thr1205Lys) http://identifiers.org/clinvar/189528 ^@ NM_000314.6(PTEN):c.-665G>A http://identifiers.org/clinvar/189678 ^@ NM_004992.3(MECP2):c.(?_248)_(320_?)del (p.(?)) http://identifiers.org/clinvar/189778 ^@ NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?)) http://identifiers.org/clinvar/189578 ^@ NM_003159.2(CDKL5):c.-253_64+?del http://identifiers.org/clinvar/189728 ^@ NM_004992.3(MECP2):c.851_1188del338 (p.Lys284Argfs) http://identifiers.org/clinvar/189628 ^@ NM_004992.3(MECP2):c.627G>A (p.Val209=) http://identifiers.org/clinvar/189912 ^@ NM_001165963.1(SCN1A):c.5656C>T (p.Arg1886Ter) http://identifiers.org/clinvar/189862 ^@ NM_001165963.1(SCN1A):c.337C>A (p.Pro113Thr) http://identifiers.org/clinvar/190147 ^@ NM_000124.3(ERCC6):c.1526+1G>T http://identifiers.org/clinvar/190197 ^@ NM_001110556.1(FLNA):c.4926C>T (p.Ala1642=) http://identifiers.org/clinvar/190253 ^@ NM_198994.2(TGM6):c.331C>T (p.Arg111Cys) http://identifiers.org/clinvar/190331 ^@ NM_014423.3(AFF4):c.772C>T (p.Arg258Trp) http://identifiers.org/clinvar/227373 ^@ NM_021167.4(GATAD1):c.435+15_435+16delAG http://identifiers.org/clinvar/229193 ^@ NM_001134363.2(RBM20):c.2338G>A (p.Gly780Arg) http://identifiers.org/clinvar/228454 ^@ NM_004281.3(BAG3):c.1118G>A (p.Cys373Tyr) http://identifiers.org/clinvar/227222 ^@ NM_022124.5(CDH23):c.3151G>A (p.Val1051Ile) http://identifiers.org/clinvar/228504 ^@ NM_022124.5(CDH23):c.8325_8327delGAA (p.Lys2775del) http://identifiers.org/clinvar/228004 ^@ NM_005422.2(TECTA):c.888G>A (p.Glu296=) http://identifiers.org/clinvar/229293 ^@ NM_005422.2(TECTA):c.2077G>A (p.Gly693Arg) http://identifiers.org/clinvar/228404 ^@ NM_005422.2(TECTA):c.5977C>T (p.Arg1993Ter) http://identifiers.org/clinvar/227553 ^@ NM_002458.2(MUC5B):c.17044G>A (p.Glu5682Lys) http://identifiers.org/clinvar/226871 ^@ NM_001277269.1(OTOG):c.2597+14G>A http://identifiers.org/clinvar/227803 ^@ NM_001277269.1(OTOG):c.8058G>A (p.Pro2686=) http://identifiers.org/clinvar/226921 ^@ NM_001277269.1(OTOG):c.8526G>C (p.Lys2842Asn) http://identifiers.org/clinvar/229143 ^@ NM_004572.3(PKP2):c.1469G>A (p.Arg490Gln) http://identifiers.org/clinvar/226971 ^@ NM_173591.3(OTOGL):c.6599C>T (p.Thr2200Ile) http://identifiers.org/clinvar/227954 ^@ NM_001127217.2(SMAD9):c.48C>T (p.Pro16=) http://identifiers.org/clinvar/229343 ^@ NM_001018008.1(TPM1):c.95A>T (p.Gln32Leu) http://identifiers.org/clinvar/226571 ^@ NM_178452.5(DNAAF1):c.1161C>G (p.Asp387Glu) http://identifiers.org/clinvar/227653 ^@ NM_016239.3(MYO15A):c.829C>T (p.His277Tyr) http://identifiers.org/clinvar/227703 ^@ NM_003803.3(MYOM1):c.4672T>C (p.Phe1558Leu) http://identifiers.org/clinvar/226821 ^@ NM_003803.3(MYOM1):c.4069+13C>A http://identifiers.org/clinvar/227523 ^@ NM_144612.6(LOXHD1):c.4497A>G (p.Ser1499=) http://identifiers.org/clinvar/226721 ^@ NM_003573.2(LTBP4):c.2389+9A>G http://identifiers.org/clinvar/226521 ^@ NM_006012.2(CLPP):c.555+3G>A http://identifiers.org/clinvar/226621 ^@ NM_207034.2(EDN3):c.525A>G (p.Gln175=) http://identifiers.org/clinvar/227603 ^@ NM_002473.5(MYH9):c.1890C>T (p.Thr630=) http://identifiers.org/clinvar/227172 ^@ NM_001614.3(ACTG1):c.954C>T (p.Thr318=) http://identifiers.org/clinvar/227473 ^@ NM_002290.4(LAMA4):c.1168+8T>C http://identifiers.org/clinvar/227853 ^@ NM_000445.4(PLEC):c.12639G>A (p.Ser4213=) http://identifiers.org/clinvar/228054 ^@ NM_144991.2(TSPEAR):c.542+15G>A http://identifiers.org/clinvar/230145 ^@ NM_000059.3(BRCA2):c.6523G>C (p.Glu2175Gln) http://identifiers.org/clinvar/229745 ^@ NM_001128425.1(MUTYH):c.*3C>A http://identifiers.org/clinvar/229995 ^@ NM_001128425.1(MUTYH):c.1518+4A>G http://identifiers.org/clinvar/232134 ^@ NM_000465.3(BARD1):c.1684A>T (p.Thr562Ser) http://identifiers.org/clinvar/232534 ^@ NM_000465.3(BARD1):c.853C>G (p.Gln285Glu) http://identifiers.org/clinvar/231884 ^@ NM_000251.2(MSH2):c.157G>T (p.Ala53Ser) http://identifiers.org/clinvar/230895 ^@ NM_000251.2(MSH2):c.755A>C (p.Gln252Pro) http://identifiers.org/clinvar/232585 ^@ NM_000179.2(MSH6):c.667A>G (p.Asn223Asp) http://identifiers.org/clinvar/232785 ^@ NM_000179.2(MSH6):c.2098C>A (p.Leu700Ile) http://identifiers.org/clinvar/229845 ^@ NM_000179.2(MSH6):c.3601C>T (p.Leu1201Phe) http://identifiers.org/clinvar/231045 ^@ NM_000249.3(MLH1):c.47_53delTGAACCG (p.Val16Alafs) http://identifiers.org/clinvar/230595 ^@ NM_000249.3(MLH1):c.931A>G (p.Lys311Glu) http://identifiers.org/clinvar/229795 ^@ NM_000249.3(MLH1):c.1481G>A (p.Cys494Tyr) http://identifiers.org/clinvar/230445 ^@ NM_000038.5(APC):c.1276G>T (p.Ala426Ser) http://identifiers.org/clinvar/232735 ^@ NM_000038.5(APC):c.3765C>A (p.Asn1255Lys) http://identifiers.org/clinvar/263518 ^@ NM_002474.2(MYH11):c.3766A>C (p.Lys1256Gln) http://identifiers.org/clinvar/263820 ^@ NM_030777.3(SLC2A10):c.1087C>G (p.Gln363Glu) http://identifiers.org/clinvar/264684 ^@ NM_000380.3(XPA):c.390-1G>C http://identifiers.org/clinvar/264741 ^@ NM_001242896.1(DEPDC5):c.3802C>T (p.Arg1268Ter) http://identifiers.org/clinvar/267864 ^@ 46;XY;t(2;13)(p25.2;q31.3)dn http://identifiers.org/clinvar/267914 ^@ 46;XY;t(9;14)(p21;q12)dn http://identifiers.org/clinvar/267964 ^@ 46;XX;add(1)(q32.1) http://identifiers.org/clinvar/268014 ^@ 46;XY;inv(2)(q11.2q33)dn http://identifiers.org/clinvar/268067 ^@ NC_000023.10:g.(?_20179739)_(20938979_?)del http://identifiers.org/clinvar/280591 ^@ NM_002016.1(FLG):c.11246C>G (p.Ser3749Ter) http://identifiers.org/clinvar/291775 ^@ NM_006610.3(MASP2):c.*171A>C http://identifiers.org/clinvar/291625 ^@ NM_015074.3(KIF1B):c.*2661A>T http://identifiers.org/clinvar/291875 ^@ NM_013319.2(UBIAD1):c.*247T>C http://identifiers.org/clinvar/291925 ^@ NM_003051.3(SLC16A1):c.-360G>A http://identifiers.org/clinvar/291675 ^@ NM_004565.2(PEX14):c.381C>T (p.Tyr127=) http://identifiers.org/clinvar/291725 ^@ NM_005272.3(GNAT2):c.-88C>G http://identifiers.org/clinvar/291825 ^@ NM_013319.2(UBIAD1):c.452A>G (p.Tyr151Cys) http://identifiers.org/clinvar/292325 ^@ NM_005518.3(HMGCS2):c.*78A>G http://identifiers.org/clinvar/292075 ^@ NM_138959.2(VANGL1):c.*4478C>T http://identifiers.org/clinvar/292125 ^@ NM_001232.3(CASQ2):c.1121A>T (p.Asp374Val) http://identifiers.org/clinvar/292025 ^@ NM_138959.2(VANGL1):c.*505A>G http://identifiers.org/clinvar/292525 ^@ NM_019032.5(ADAMTSL4):c.1007G>A (p.Gly336Asp) http://identifiers.org/clinvar/292575 ^@ NM_019032.5(ADAMTSL4):c.*459_*460delGT http://identifiers.org/clinvar/291975 ^@ NM_002524.4(NRAS):c.*111A>G http://identifiers.org/clinvar/292775 ^@ NM_001111.4(ADAR):c.1577A>G (p.Gln526Arg) http://identifiers.org/clinvar/292175 ^@ NM_005957.4(MTHFR):c.*3219C>T http://identifiers.org/clinvar/292225 ^@ NM_005957.4(MTHFR):c.*174delT http://identifiers.org/clinvar/292275 ^@ NM_000198.3(HSD3B2):c.*321C>G http://identifiers.org/clinvar/292375 ^@ NM_014874.3(MFN2):c.1659G>A (p.Val553=) http://identifiers.org/clinvar/292875 ^@ NM_001012331.1(NTRK1):c.375C>T (p.Asn125=) http://identifiers.org/clinvar/292425 ^@ NM_213653.3(HFE2):c.435G>C (p.Pro145=) http://identifiers.org/clinvar/293464 ^@ NM_005149.2(TBX19):c.603+43_603+48dupGTGTGT http://identifiers.org/clinvar/293514 ^@ NM_006996.2(SLC19A2):c.*898_*899delAA http://identifiers.org/clinvar/292475 ^@ NM_005850.4(SF3B4):c.978C>A (p.Pro326=) http://identifiers.org/clinvar/292625 ^@ NM_152263.3(TPM3):c.*5856T>G http://identifiers.org/clinvar/292675 ^@ NM_152263.3(TPM3):c.*1661C>T http://identifiers.org/clinvar/292725 ^@ NM_001111.4(ADAR):c.*1344G>A http://identifiers.org/clinvar/293714 ^@ NM_000261.1(MYOC):c.728C>A (p.Thr243Asn) http://identifiers.org/clinvar/292825 ^@ NM_005572.3(LMNA):c.-210T>C http://identifiers.org/clinvar/293564 ^@ NM_000130.4(F5):c.*396C>A http://identifiers.org/clinvar/293664 ^@ NM_152281.2(GORAB):c.*102G>A http://identifiers.org/clinvar/293914 ^@ NM_002065.6(GLUL):c.*1364G>A http://identifiers.org/clinvar/294064 ^@ NM_000433.3(NCF2):c.*510T>A http://identifiers.org/clinvar/293964 ^@ NM_002065.6(GLUL):c.-466A>G http://identifiers.org/clinvar/294014 ^@ NM_005562.2(LAMC2):c.3000T>A (p.Ala1000=) http://identifiers.org/clinvar/294164 ^@ NM_031935.2(HMCN1):c.5852-12T>G http://identifiers.org/clinvar/294214 ^@ NM_031935.2(HMCN1):c.9657T>G (p.Ser3219Arg) http://identifiers.org/clinvar/294314 ^@ NM_031935.2(HMCN1):c.16811G>T (p.Arg5604Leu) http://identifiers.org/clinvar/294364 ^@ NM_003748.3(ALDH4A1):c.1631C>T (p.Pro544Leu) http://identifiers.org/clinvar/294414 ^@ NM_024529.4(CDC73):c.1417+9C>T http://identifiers.org/clinvar/294614 ^@ NM_018136.4(ASPM):c.6843A>T (p.Arg2281Ser) http://identifiers.org/clinvar/293614 ^@ NM_000130.4(F5):c.3211C>T (p.His1071Tyr) http://identifiers.org/clinvar/293764 ^@ NM_022089.3(ATP13A2):c.3539G>A (p.Arg1180Lys) http://identifiers.org/clinvar/294814 ^@ NM_001005337.2(PKP1):c.995G>A (p.Arg332His) http://identifiers.org/clinvar/293814 ^@ NM_018122.4(DARS2):c.261T>C (p.Asp87=) http://identifiers.org/clinvar/293864 ^@ NM_033343.3(LHX4):c.398T>C (p.Met133Thr) http://identifiers.org/clinvar/336259 ^@ NM_001430.4(EPAS1):c.1035-6C>G http://identifiers.org/clinvar/336309 ^@ NM_001430.4(EPAS1):c.*1239A>G http://identifiers.org/clinvar/335959 ^@ NM_000104.3(CYP1B1):c.-84T>C http://identifiers.org/clinvar/336059 ^@ NM_022437.2(ABCG8):c.-53C>G http://identifiers.org/clinvar/336359 ^@ NM_139279.5(MCFD2):c.*1289T>C http://identifiers.org/clinvar/344006 ^@ NM_001041.3(SI):c.4841+9A>G http://identifiers.org/clinvar/345145 ^@ NM_017875.2(SLC25A38):c.239C>G (p.Thr80Arg) http://identifiers.org/clinvar/345245 ^@ NM_016006.4(ABHD5):c.*1662A>G http://identifiers.org/clinvar/345495 ^@ NM_024513.3(FYCO1):c.4319C>T (p.Thr1440Ile) http://identifiers.org/clinvar/345595 ^@ NM_000316.2(PTH1R):c.1305G>A (p.Thr435=) http://identifiers.org/clinvar/344895 ^@ NM_006371.4(CRTAP):c.*4994C>T http://identifiers.org/clinvar/344995 ^@ NM_001106.3(ACVR2B):c.*4995C>T http://identifiers.org/clinvar/345095 ^@ NM_198056.2(SCN5A):c.*705C>A http://identifiers.org/clinvar/345195 ^@ NM_018075.4(ANO10):c.338-11T>C http://identifiers.org/clinvar/342256 ^@ NM_033084.4(FANCD2):c.382G>T (p.Gly128Cys) http://identifiers.org/clinvar/345395 ^@ NM_020208.3(SLC6A20):c.1741C>T (p.Arg581Cys) http://identifiers.org/clinvar/345445 ^@ NM_024513.3(FYCO1):c.*3178G>T http://identifiers.org/clinvar/345645 ^@ NM_015175.2(NBEAL2):c.2887G>T (p.Gly963Cys) http://identifiers.org/clinvar/342506 ^@ NM_000551.3(VHL):c.*3506G>T http://identifiers.org/clinvar/345695 ^@ NM_015175.2(NBEAL2):c.*37C>G http://identifiers.org/clinvar/342606 ^@ NM_000796.5(DRD3):c.-114A>G http://identifiers.org/clinvar/346984 ^@ NM_000097.5(CPOX):c.395C>T (p.Ala132Val) http://identifiers.org/clinvar/342656 ^@ NM_020754.3(ARHGAP31):c.2359C>G (p.Pro787Ala) http://identifiers.org/clinvar/345945 ^@ NM_000387.5(SLC25A20):c.-9G>C http://identifiers.org/clinvar/347484 ^@ NM_176824.2(BBS7):c.1311C>T (p.Asn437=) http://identifiers.org/clinvar/343056 ^@ NM_025265.3(TSEN2):c.-222G>A http://identifiers.org/clinvar/347584 ^@ NM_031296.2(RAB33B):c.*1403C>A http://identifiers.org/clinvar/342956 ^@ NM_000373.3(UMPS):c.*1306_*1307delGA http://identifiers.org/clinvar/343106 ^@ NM_002880.3(RAF1):c.-139T>G http://identifiers.org/clinvar/343356 ^@ NM_153240.4(NPHP3):c.*1078T>G http://identifiers.org/clinvar/343406 ^@ NM_003571.3(BFSP2):c.410G>A (p.Arg137Gln) http://identifiers.org/clinvar/347884 ^@ NM_004744.4(LRAT):c.*3459dupA http://identifiers.org/clinvar/343256 ^@ NM_052985.3(IFT122):c.2753C>T (p.Pro918Leu) http://identifiers.org/clinvar/343556 ^@ NM_004628.4(XPC):c.*411dupA http://identifiers.org/clinvar/343306 ^@ NM_000539.3(RHO):c.*1099G>A http://identifiers.org/clinvar/343456 ^@ NM_000532.4(PCCB):c.45C>T (p.Ser15=) http://identifiers.org/clinvar/343806 ^@ NM_174878.2(CLRN1):c.*307G>T http://identifiers.org/clinvar/343906 ^@ NM_000060.4(BTD):c.196C>A (p.Pro66Thr) http://identifiers.org/clinvar/353672 ^@ NM_000436.3(OXCT1):c.-133G>A http://identifiers.org/clinvar/358251 ^@ NM_014165.3(NDUFAF4):c.*1363G>A http://identifiers.org/clinvar/354072 ^@ NM_017755.5(NSUN2):c.-222dupT http://identifiers.org/clinvar/353772 ^@ NM_002203.3(ITGA2):c.2678T>C (p.Ile893Thr) http://identifiers.org/clinvar/353822 ^@ NM_002203.3(ITGA2):c.*2429C>T http://identifiers.org/clinvar/354222 ^@ NM_003664.4(AP3B1):c.2906A>G (p.Asp969Gly) http://identifiers.org/clinvar/358551 ^@ NM_000111.2(SLC26A3):c.741A>G (p.Leu247=) http://identifiers.org/clinvar/354861 ^@ NM_007214.4(SEC63):c.*1901A>G http://identifiers.org/clinvar/354961 ^@ NM_014028.3(OSTM1):c.*1407A>G http://identifiers.org/clinvar/355011 ^@ NM_004752.3(GCM2):c.903C>T (p.Asp301=) http://identifiers.org/clinvar/354911 ^@ NM_007214.4(SEC63):c.340-4_340-3dupCC http://identifiers.org/clinvar/355112 ^@ NM_000493.3(COL10A1):c.154+13G>C http://identifiers.org/clinvar/355061 ^@ NM_003880.3(WISP3):c.178C>T (p.Arg60Cys) http://identifiers.org/clinvar/359690 ^@ NM_001277115.1(DNAH11):c.12601C>T (p.Pro4201Ser) http://identifiers.org/clinvar/363599 ^@ NM_020361.4(CPA6):c.1288A>G (p.Met430Val) http://identifiers.org/clinvar/363649 ^@ NM_000503.5(EYA1):c.1258T>C (p.Leu420=) http://identifiers.org/clinvar/355162 ^@ NM_000165.4(GJA1):c.1015G>A (p.Asp339Asn) http://identifiers.org/clinvar/359740 ^@ NM_032581.3(FAM126A):c.*1878T>G http://identifiers.org/clinvar/363799 ^@ NM_000318.2(PEX2):c.*1141G>A http://identifiers.org/clinvar/359840 ^@ NM_004403.2(DFNA5):c.1253A>G (p.His418Arg) http://identifiers.org/clinvar/355662 ^@ NM_003764.3(STX11):c.*4141G>A http://identifiers.org/clinvar/355612 ^@ NM_003764.3(STX11):c.*939_*942delTCCT http://identifiers.org/clinvar/364499 ^@ NM_001079802.1(FKTN):c.*1249C>T http://identifiers.org/clinvar/355912 ^@ NM_033071.3(SYNE1):c.7324C>T (p.Arg2442Cys) http://identifiers.org/clinvar/360440 ^@ NM_000790.3(DDC):c.265A>G (p.Met89Val) http://identifiers.org/clinvar/355712 ^@ NM_203395.2(IYD):c.*1388_*1389delCT http://identifiers.org/clinvar/355962 ^@ NM_032122.4(DTNBP1):c.1000A>C (p.Thr334Pro) http://identifiers.org/clinvar/355762 ^@ NM_203395.2(IYD):c.*4367C>A http://identifiers.org/clinvar/355812 ^@ NM_033071.3(SYNE1):c.24131C>G (p.Thr8044Ser) http://identifiers.org/clinvar/364799 ^@ NM_000177.4(GSN):c.349+7C>T http://identifiers.org/clinvar/356212 ^@ NM_001109809.2(ZFP57):c.857C>T (p.Pro286Leu) http://identifiers.org/clinvar/356012 ^@ NM_004562.2(PRKN):c.*98G>A http://identifiers.org/clinvar/356062 ^@ NM_198586.2(NHLRC1):c.*626C>T http://identifiers.org/clinvar/356112 ^@ NM_000367.4(TPMT):c.620T>G (p.Leu207Trp) http://identifiers.org/clinvar/356712 ^@ NM_002098.5(GUCA1B):c.*767A>T http://identifiers.org/clinvar/365838 ^@ NM_052813.4(CARD9):c.1153G>C (p.Val385Leu) http://identifiers.org/clinvar/365889 ^@ NM_019892.5(INPP5E):c.1104C>T (p.His368=) http://identifiers.org/clinvar/365939 ^@ NM_006412.3(AGPAT2):c.-62G>A http://identifiers.org/clinvar/365989 ^@ NM_016219.4(MAN1B1):c.*553A>G http://identifiers.org/clinvar/311079 ^@ NM_001845.5(COL4A1):c.388-11T>C http://identifiers.org/clinvar/366689 ^@ NM_012144.3(DNAI1):c.1020-14A>T http://identifiers.org/clinvar/303241 ^@ NM_022370.3(ROBO3):c.1615C>T (p.Arg539Trp) http://identifiers.org/clinvar/367239 ^@ NM_004817.3(TJP2):c.*370G>C http://identifiers.org/clinvar/311379 ^@ NM_006783.4(GJB6):c.680C>T (p.Thr227Met) http://identifiers.org/clinvar/303391 ^@ NM_016952.4(CDON):c.*3176C>G http://identifiers.org/clinvar/366889 ^@ NM_001042413.1(GLIS3):c.*3336_*3340delATTTT http://identifiers.org/clinvar/311579 ^@ NM_014363.5(SACS):c.-331A>C http://identifiers.org/clinvar/367289 ^@ NM_017662.4(TRPM6):c.*513A>G http://identifiers.org/clinvar/364149 ^@ NM_004612.3(TGFBR1):c.*2685T>G http://identifiers.org/clinvar/367368 ^@ NM_033305.2(VPS13A):c.2667+11C>T http://identifiers.org/clinvar/312168 ^@ NM_014252.3(SLC25A15):c.-274T>C http://identifiers.org/clinvar/367468 ^@ NM_058179.3(PSAT1):c.*789A>G http://identifiers.org/clinvar/367518 ^@ NM_004560.3(ROR2):c.153C>T (p.Asp51=) http://identifiers.org/clinvar/298692 ^@ NM_000494.3(COL17A1):c.3766+14C>A http://identifiers.org/clinvar/304280 ^@ NM_000510.2(FSHB):c.*476A>G http://identifiers.org/clinvar/298792 ^@ NM_001134363.2(RBM20):c.1135G>A (p.Gly379Arg) http://identifiers.org/clinvar/304330 ^@ NM_000280.4(PAX6):c.*2387G>T http://identifiers.org/clinvar/298842 ^@ NM_001134363.2(RBM20):c.*2362_*2365delTAAA http://identifiers.org/clinvar/298892 ^@ NM_004132.4(HABP2):c.-70T>C http://identifiers.org/clinvar/304430 ^@ NM_024426.4(WT1):c.121G>T (p.Ala41Ser) http://identifiers.org/clinvar/304480 ^@ NM_003477.2(PDHX):c.*331G>C http://identifiers.org/clinvar/299042 ^@ NM_002775.4(HTRA1):c.-57C>A http://identifiers.org/clinvar/299092 ^@ NM_001609.3(ACADSB):c.*6A>G http://identifiers.org/clinvar/304630 ^@ NM_021926.3(ALX4):c.*2835A>T http://identifiers.org/clinvar/304830 ^@ NM_002334.3(LRP4):c.*1586T>G http://identifiers.org/clinvar/298992 ^@ NM_000141.4(FGFR2):c.*197delA http://identifiers.org/clinvar/299442 ^@ NM_001081.3(CUBN):c.6263T>C (p.Phe2088Ser) http://identifiers.org/clinvar/305080 ^@ NM_001173990.2(TMEM216):c.358A>G (p.Met120Val) http://identifiers.org/clinvar/299142 ^@ NM_001609.3(ACADSB):c.*3130A>G http://identifiers.org/clinvar/305332 ^@ NM_032193.3(RNASEH2C):c.*1621A>G http://identifiers.org/clinvar/305382 ^@ NM_016938.4(EFEMP2):c.397G>A (p.Asp133Asn) http://identifiers.org/clinvar/299492 ^@ NM_001081.3(CUBN):c.3308A>G (p.Tyr1103Cys) http://identifiers.org/clinvar/299542 ^@ NM_001081.3(CUBN):c.618C>T (p.Tyr206=) http://identifiers.org/clinvar/306295 ^@ NM_020376.3(PNPLA2):c.399C>T (p.Asn133=) http://identifiers.org/clinvar/306346 ^@ NM_012193.3(FZD4):c.*4068C>T http://identifiers.org/clinvar/315667 ^@ NM_005159.4(ACTC1):c.*1062G>A http://identifiers.org/clinvar/306496 ^@ NM_005591.3(MRE11):c.18A>T (p.Ala6=) http://identifiers.org/clinvar/329290 ^@ NM_181882.2(PRX):c.237C>T (p.Asp79=) http://identifiers.org/clinvar/311129 ^@ NM_001846.3(COL4A2):c.1550G>A (p.Arg517Lys) http://identifiers.org/clinvar/329340 ^@ NM_030578.3(B9D2):c.484G>T (p.Gly162Cys) http://identifiers.org/clinvar/311229 ^@ NM_000131.4(F7):c.*71T>A http://identifiers.org/clinvar/329540 ^@ NM_202001.2(ERCC1):c.-143A>G http://identifiers.org/clinvar/329590 ^@ NM_025136.3(OPA3):c.*4954C>T http://identifiers.org/clinvar/318057 ^@ NM_014714.3(IFT140):c.2424G>A (p.Ala808=) http://identifiers.org/clinvar/311429 ^@ NM_002010.2(FGF9):c.*208G>A http://identifiers.org/clinvar/329690 ^@ NM_000554.5(CRX):c.-116T>C http://identifiers.org/clinvar/318159 ^@ NM_002474.2(MYH11):c.3311C>T (p.Ala1104Val) http://identifiers.org/clinvar/311479 ^@ NM_000231.2(SGCG):c.-6T>C http://identifiers.org/clinvar/318259 ^@ NM_004970.2(IGFALS):c.438C>T (p.Pro146=) http://identifiers.org/clinvar/329940 ^@ NM_024729.3(MYH14):c.4173C>T (p.Ser1391=) http://identifiers.org/clinvar/318559 ^@ NM_001089.2(ABCA3):c.1131C>T (p.Phe377=) http://identifiers.org/clinvar/330140 ^@ NM_024075.4(TSEN34):c.*692A>G http://identifiers.org/clinvar/310424 ^@ NM_001131025.1(PEX5):c.967-15G>A http://identifiers.org/clinvar/330290 ^@ NM_000064.3(C3):c.3753C>A (p.Pro1251=) http://identifiers.org/clinvar/318709 ^@ NM_001042432.1(CLN3):c.*205G>A http://identifiers.org/clinvar/330340 ^@ NM_000064.3(C3):c.443G>A (p.Arg148Gln) http://identifiers.org/clinvar/330390 ^@ NM_000208.3(INSR):c.*2318G>A http://identifiers.org/clinvar/310574 ^@ NM_020661.3(AICDA):c.*235C>G http://identifiers.org/clinvar/310829 ^@ NM_018979.3(WNK1):c.4384G>C (p.Gly1462Arg) http://identifiers.org/clinvar/319109 ^@ NM_000243.2(MEFV):c.1736G>A (p.Arg579His) http://identifiers.org/clinvar/319259 ^@ NM_032575.2(GLIS2):c.*1628C>G http://identifiers.org/clinvar/338126 ^@ NM_015338.5(ASXL1):c.*394A>G http://identifiers.org/clinvar/338326 ^@ NM_000557.4(GDF5):c.-135G>A http://identifiers.org/clinvar/311329 ^@ NM_021954.3(GJA3):c.*188_*189delTG http://identifiers.org/clinvar/338576 ^@ NM_001250.5(CD40):c.679C>G (p.Pro227Ala) http://identifiers.org/clinvar/338626 ^@ NM_030777.3(SLC2A10):c.*1628T>A http://identifiers.org/clinvar/311629 ^@ NM_018451.4(CENPJ):c.656C>T (p.Pro219Leu) http://identifiers.org/clinvar/320749 ^@ NM_012213.2(MLYCD):c.*281G>A http://identifiers.org/clinvar/320799 ^@ NM_001451.2(FOXF1):c.*98A>G http://identifiers.org/clinvar/320849 ^@ NM_001127464.2(ZNF469):c.139G>A (p.Gly47Ser) http://identifiers.org/clinvar/321049 ^@ NM_001127464.2(ZNF469):c.*599C>G http://identifiers.org/clinvar/321249 ^@ NM_000303.2(PMM2):c.*833G>A http://identifiers.org/clinvar/321199 ^@ NM_000512.4(GALNS):c.921G>T (p.Leu307=) http://identifiers.org/clinvar/321499 ^@ NM_000833.4(GRIN2A):c.*6661G>A http://identifiers.org/clinvar/321653 ^@ NM_002472.2(MYH8):c.675C>T (p.Ser225=) http://identifiers.org/clinvar/321703 ^@ NM_017534.5(MYH2):c.-60T>C http://identifiers.org/clinvar/340366 ^@ NM_001849.3(COL6A2):c.1013G>A (p.Arg338His) http://identifiers.org/clinvar/326851 ^@ NM_144612.6(LOXHD1):c.3165C>T (p.Gly1055=) http://identifiers.org/clinvar/326901 ^@ NM_017653.3(DYM):c.831T>C (p.Ser277=) http://identifiers.org/clinvar/326951 ^@ NM_001080467.2(MYO5B):c.*2211T>C http://identifiers.org/clinvar/327101 ^@ NM_005359.5(SMAD4):c.-503_-501delACA http://identifiers.org/clinvar/327301 ^@ NM_001083962.1(TCF4):c.*53C>A http://identifiers.org/clinvar/329090 ^@ NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) http://identifiers.org/clinvar/368357 ^@ NM_153380.3(ZNF41):c.2310T>C (p.Ser770=) http://identifiers.org/clinvar/368407 ^@ NM_007137.3(ZNF81):c.*607A>G http://identifiers.org/clinvar/327401 ^@ NM_000140.3(FECH):c.*1175G>A http://identifiers.org/clinvar/327451 ^@ NM_005603.4(ATP8B1):c.*827T>A http://identifiers.org/clinvar/368457 ^@ NM_003179.2(SYP):c.*1128C>G http://identifiers.org/clinvar/329240 ^@ NM_016941.3(DLL3):c.1778C>G (p.Pro593Arg) http://identifiers.org/clinvar/368607 ^@ NM_013444.3(UBQLN2):c.243A>G (p.Leu81=) http://identifiers.org/clinvar/327651 ^@ NM_133459.3(CCBE1):c.*2080C>T http://identifiers.org/clinvar/368657 ^@ NM_004299.4(ABCB7):c.1323T>C (p.Asp441=) http://identifiers.org/clinvar/330240 ^@ NM_175614.4(NDUFA11):c.-88C>A http://identifiers.org/clinvar/330440 ^@ NM_000208.3(INSR):c.3795-5C>T http://identifiers.org/clinvar/328540 ^@ NM_000453.2(SLC5A5):c.1506C>G (p.Asn502Lys) http://identifiers.org/clinvar/328690 ^@ NM_001031726.3(C19orf12):c.*1880T>C http://identifiers.org/clinvar/328940 ^@ NM_032753.3(RAX2):c.*1523T>C http://identifiers.org/clinvar/329140 ^@ NM_000540.2(RYR1):c.14981T>C (p.Met4994Thr) http://identifiers.org/clinvar/338176 ^@ NM_006892.3(DNMT3B):c.1804G>A (p.Val602Ile) http://identifiers.org/clinvar/338276 ^@ NM_000687.3(AHCY):c.559-13C>G http://identifiers.org/clinvar/338376 ^@ NM_005461.4(MAFB):c.*1751C>T http://identifiers.org/clinvar/338726 ^@ NM_006420.2(ARFGEF2):c.*1756G>A http://identifiers.org/clinvar/329790 ^@ NM_002103.4(GYS1):c.*1113_*1116delAGTG http://identifiers.org/clinvar/329890 ^@ NM_007254.3(PNKP):c.*21A>C http://identifiers.org/clinvar/329990 ^@ NM_144687.3(NLRP12):c.*266G>T http://identifiers.org/clinvar/339227 ^@ NM_017671.4(FERMT1):c.695C>T (p.Ala232Val) http://identifiers.org/clinvar/330190 ^@ NM_003283.5(TNNT1):c.791+12C>T http://identifiers.org/clinvar/340266 ^@ NM_130445.3(COL18A1):c.3538C>T (p.Arg1180Cys) http://identifiers.org/clinvar/340316 ^@ NM_001848.2(COL6A1):c.1277G>A (p.Gly426Asp) http://identifiers.org/clinvar/338226 ^@ NM_003098.2(SNTA1):c.-251G>A http://identifiers.org/clinvar/340416 ^@ NM_006657.2(FTCD):c.1409G>A (p.Arg470Gln) http://identifiers.org/clinvar/338426 ^@ NM_000457.4(HNF4A):c.387C>T (p.Ala129=) http://identifiers.org/clinvar/338526 ^@ NM_000308.3(CTSA):c.273C>G (p.Pro91=) http://identifiers.org/clinvar/340767 ^@ NM_017929.5(PEX26):c.*611_*612dupGA http://identifiers.org/clinvar/338676 ^@ NM_006420.2(ARFGEF2):c.-94C>T http://identifiers.org/clinvar/338777 ^@ NM_020436.4(SALL4):c.996C>T (p.Ser332=) http://identifiers.org/clinvar/341167 ^@ NM_000268.3(NF2):c.*3274G>A http://identifiers.org/clinvar/341417 ^@ NM_004737.5(LARGE1):c.*833A>G http://identifiers.org/clinvar/382816 ^@ NM_032578.3(MYPN):c.660G>A (p.Arg220=) http://identifiers.org/clinvar/378223 ^@ NM_032578.3(MYPN):c.903-6355C>T http://identifiers.org/clinvar/386908 ^@ NM_014000.2(VCL):c.1872+12A>G http://identifiers.org/clinvar/388997 ^@ NM_006831.2(CLP1):c.951C>T (p.Phe317=) http://identifiers.org/clinvar/380371 ^@ NM_004329.2(BMPR1A):c.676-15C>A http://identifiers.org/clinvar/392346 ^@ NM_001134363.2(RBM20):c.1804C>A (p.Pro602Thr) http://identifiers.org/clinvar/381624 ^@ NM_130799.2(MEN1):c.494G>A (p.Cys165Tyr) http://identifiers.org/clinvar/385908 ^@ NM_015631.5(TCTN3):c.1567C>T (p.Leu523=) http://identifiers.org/clinvar/378478 ^@ NM_020975.4(RET):c.73+9201C>T http://identifiers.org/clinvar/378323 ^@ NM_033056.3(PCDH15):c.19C>A (p.Leu7Ile) http://identifiers.org/clinvar/386208 ^@ NM_000051.3(ATM):c.2823C>A (p.Ser941=) http://identifiers.org/clinvar/384919 ^@ NM_000051.3(ATM):c.6453-3T>C http://identifiers.org/clinvar/384468 ^@ NM_006231.3(POLE):c.6006G>A (p.Ala2002=) http://identifiers.org/clinvar/392596 ^@ NM_014191.3(SCN8A):c.707-15A>G http://identifiers.org/clinvar/389097 ^@ NM_025114.3(CEP290):c.2595C>T (p.Leu865=) http://identifiers.org/clinvar/386508 ^@ NM_024537.3(CARS2):c.1503G>A (p.Ala501=) http://identifiers.org/clinvar/386158 ^@ NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) http://identifiers.org/clinvar/386108 ^@ NM_020822.2(KCNT1):c.3316C>A (p.Arg1106=) http://identifiers.org/clinvar/383317 ^@ NM_006231.3(POLE):c.286-14G>C http://identifiers.org/clinvar/380422 ^@ NM_000834.3(GRIN2B):c.513C>T (p.Ile171=) http://identifiers.org/clinvar/385219 ^@ NM_001376.4(DYNC1H1):c.11839T>C (p.Leu3947=) http://identifiers.org/clinvar/392096 ^@ NM_006231.3(POLE):c.1106+12T>C http://identifiers.org/clinvar/380522 ^@ NM_004092.3(ECHS1):c.228C>T (p.Phe76=) http://identifiers.org/clinvar/384669 ^@ NM_144670.5(A2ML1):c.3364C>T (p.Arg1122Trp) http://identifiers.org/clinvar/389247 ^@ NM_001018005.1(TPM1):c.783C>T (p.Tyr261=) http://identifiers.org/clinvar/379031 ^@ NM_000059.3(BRCA2):c.573T>C (p.Asp191=) http://identifiers.org/clinvar/378881 ^@ NM_003978.4(PSTPIP1):c.563-9C>T http://identifiers.org/clinvar/387008 ^@ NM_000257.3(MYH7):c.768A>G (p.Gly256=) http://identifiers.org/clinvar/389347 ^@ NM_002408.3(MGAT2):c.1023T>C (p.Tyr341=) http://identifiers.org/clinvar/384769 ^@ NM_001004127.2(ALG11):c.44+20G>T http://identifiers.org/clinvar/377821 ^@ NM_001376.4(DYNC1H1):c.12774C>T (p.Asn4258=) http://identifiers.org/clinvar/379081 ^@ NM_000391.3(TPP1):c.69G>A (p.Pro23=) http://identifiers.org/clinvar/387058 ^@ NM_001160147.1(DDHD1):c.2490C>G (p.Leu830=) http://identifiers.org/clinvar/384218 ^@ NM_030813.5(CLPB):c.2116A>G (p.Thr706Ala) http://identifiers.org/clinvar/381124 ^@ NM_024490.3(ATP10A):c.1581+8T>C http://identifiers.org/clinvar/385069 ^@ NM_000548.4(TSC2):c.1717-15G>A http://identifiers.org/clinvar/47422 ^@ NM_001256850.1(TTN):c.78358G>A (p.Val26120Ile) http://identifiers.org/clinvar/47473 ^@ NM_001256850.1(TTN):c.83167G>A (p.Gly27723Ser) http://identifiers.org/clinvar/47773 ^@ NM_133379.4(TTN):c.14492G>A (p.Cys4831Tyr) http://identifiers.org/clinvar/47823 ^@ NM_133432.3(TTN):c.11521A>G (p.Ile3841Val) http://identifiers.org/clinvar/47873 ^@ NM_138691.2(TMC1):c.421C>T (p.Arg141Trp) http://identifiers.org/clinvar/47923 ^@ NM_144612.6(LOXHD1):c.1894G>T (p.Gly632Cys) http://identifiers.org/clinvar/47973 ^@ NM_153676.3(USH1C):c.1085+21C>G http://identifiers.org/clinvar/48025 ^@ NM_005709.3(USH1C):c.819+10G>C http://identifiers.org/clinvar/48075 ^@ NM_170707.3(LMNA):c.700C>T (p.Gln234Ter) http://identifiers.org/clinvar/48125 ^@ NM_000337.5(SGCD):c.84T>C (p.Tyr28=) http://identifiers.org/clinvar/48175 ^@ NM_194248.2(OTOF):c.1614C>A (p.Asn538Lys) http://identifiers.org/clinvar/48225 ^@ NM_194248.2(OTOF):c.3751T>G (p.Cys1251Gly) http://identifiers.org/clinvar/48275 ^@ NM_194248.2(OTOF):c.79+12G>A http://identifiers.org/clinvar/48326 ^@ NM_201555.1(FHL2):c.678C>T (p.Asn226=) http://identifiers.org/clinvar/48376 ^@ NM_206933.2(USH2A):c.1143+1G>A http://identifiers.org/clinvar/48426 ^@ NM_206933.2(USH2A):c.14031dupA (p.Ala4678Serfs) http://identifiers.org/clinvar/48476 ^@ NM_007123.5(USH2A):c.1841-2A>G http://identifiers.org/clinvar/68 ^@ NM_000374.4(UROD):c.499G>A (p.Glu167Lys) http://identifiers.org/clinvar/82 ^@ NM_000235.3(LIPA):c.129C>G (p.Tyr43Ter) http://identifiers.org/clinvar/126 ^@ NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) http://identifiers.org/clinvar/135 ^@ NM_001128228.2(TPRN):c.1427delC (p.Pro476Argfs) http://identifiers.org/clinvar/276 ^@ NM_000934.3(SERPINF2):c.1231G>A (p.Val411Met) http://identifiers.org/clinvar/285 ^@ NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) http://identifiers.org/clinvar/313 ^@ NM_000552.4(VWF):c.2411G>T (p.Cys804Phe) http://identifiers.org/clinvar/355 ^@ NM_000267.3(NF1):c.1523T>C (p.Leu508Pro) http://identifiers.org/clinvar/1057 ^@ NM_018122.4(DARS2):c.228-21_228-20delTTinsC http://identifiers.org/clinvar/1066 ^@ NM_018122.4(DARS2):c.1837C>T (p.Leu613Phe) http://identifiers.org/clinvar/1164 ^@ F12, CYS571SER http://identifiers.org/clinvar/1209 ^@ MAT1A, 2-BP INS, 539TG http://identifiers.org/clinvar/1304 ^@ NM_001174089.1(SLC4A11):c.2216G>A (p.Arg739Gln) http://identifiers.org/clinvar/1396 ^@ NM_018418.4(SPATA7):c.960dupA (p.Pro321Thrfs) http://identifiers.org/clinvar/1440 ^@ NM_015697.7(COQ2):c.437G>A (p.Ser146Asn) http://identifiers.org/clinvar/1486 ^@ NM_000190.3(HMBS):c.445C>T (p.Arg149Ter) http://identifiers.org/clinvar/1531 ^@ NM_000237.2(LPL):c.300C>A (p.Tyr100Ter) http://identifiers.org/clinvar/1671 ^@ CYP27B1, IVS2, G-A, +1 http://identifiers.org/clinvar/1716 ^@ NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) http://identifiers.org/clinvar/1764 ^@ NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) http://identifiers.org/clinvar/1812 ^@ NM_152594.2(SPRED1):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/1858 ^@ NM_152783.4(D2HGDH):c.1123G>T (p.Asp375Tyr) http://identifiers.org/clinvar/1902 ^@ NM_000060.4(BTD):c.1368A>C (p.Gln456His) http://identifiers.org/clinvar/1948 ^@ NM_030957.3(ADAMTS10):c.952C>T (p.Gln318Ter) http://identifiers.org/clinvar/2576 ^@ APOC2, 1-BP DEL http://identifiers.org/clinvar/2621 ^@ NM_013389.2(NPC1L1):c.3698T>A (p.Ile1233Asn) http://identifiers.org/clinvar/2668 ^@ NM_182760.3(SUMF1):c.1006T>C (p.Cys336Arg) http://identifiers.org/clinvar/2714 ^@ NM_017671.4(FERMT1):c.787C>T (p.Gln263Ter) http://identifiers.org/clinvar/2804 ^@ NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) http://identifiers.org/clinvar/2896 ^@ NM_000419.4(ITGA2B):c.1073G>A (p.Arg358His) http://identifiers.org/clinvar/2940 ^@ NM_001902.5(CTH):c.718C>G (p.Gln240Glu) http://identifiers.org/clinvar/2987 ^@ NM_000543.4(SMPD1):c.730G>A (p.Gly244Arg) http://identifiers.org/clinvar/3033 ^@ NM_000051.3(ATM):c.3245_3247delATCinsTGAT (p.His1082Leufs) http://identifiers.org/clinvar/3080 ^@ NM_000487.5(ARSA):c.1010A>T (p.Asp337Val) http://identifiers.org/clinvar/3180 ^@ NM_138477.2(CDAN1):c.2602T>A (p.Phe868Ile) http://identifiers.org/clinvar/3225 ^@ NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) http://identifiers.org/clinvar/3274 ^@ NM_024529.4(CDC73):c.162C>G (p.Tyr54Ter) http://identifiers.org/clinvar/3319 ^@ SALL4, 1-BP DEL, 1053G http://identifiers.org/clinvar/10381 ^@ NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) http://identifiers.org/clinvar/10430 ^@ GATA1, 332G-C http://identifiers.org/clinvar/10479 ^@ NM_000032.4(ALAS2):c.475G>A (p.Asp159Asn) http://identifiers.org/clinvar/10524 ^@ GPR143, 37-BP DEL http://identifiers.org/clinvar/10614 ^@ NM_000133.3(F9):c.1144T>C (p.Cys382Arg) http://identifiers.org/clinvar/10705 ^@ AMER1, 1-BP INS, 780A http://identifiers.org/clinvar/10796 ^@ NM_001039891.2(ZNF674):c.352G>T (p.Glu118Ter) http://identifiers.org/clinvar/10840 ^@ NM_000054.4(AVPR2):c.337C>T (p.Arg113Trp) http://identifiers.org/clinvar/10886 ^@ NM_000284.3(PDHA1):c.861_862insT (p.Arg288Serfs) http://identifiers.org/clinvar/10931 ^@ NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly) http://identifiers.org/clinvar/10978 ^@ NM_000475.4(NR0B1):c.315G>C (p.Trp105Cys) http://identifiers.org/clinvar/11021 ^@ PCDH19, 5-BP DUP, NT1036 http://identifiers.org/clinvar/11067 ^@ NM_001015877.1(PHF6):c.686A>G (p.His229Arg) http://identifiers.org/clinvar/11111 ^@ TAZ, 4-BP DEL, AGTG http://identifiers.org/clinvar/11202 ^@ ARX, 33-BP DUP http://identifiers.org/clinvar/11248 ^@ BMD, IVS13, G-T, -1 http://identifiers.org/clinvar/11293 ^@ NM_000033.3(ABCD1):c.1451C>G (p.Pro484Arg) http://identifiers.org/clinvar/11338 ^@ NM_003588.3(CUL4B):c.1714C>T (p.Arg572Cys) http://identifiers.org/clinvar/11384 ^@ NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) http://identifiers.org/clinvar/11494 ^@ CDKL5, 1-BP DEL, 183T http://identifiers.org/clinvar/11545 ^@ NM_003611.2(OFD1):c.2767delG (p.Glu923Lysfs) http://identifiers.org/clinvar/11595 ^@ NM_001363.4(DKC1):c.1069A>G (p.Thr357Ala) http://identifiers.org/clinvar/11645 ^@ XIAP, 1-BP DEL, 291C http://identifiers.org/clinvar/11696 ^@ NM_005629.3(SLC6A8):c.1540C>T (p.Arg514Ter) http://identifiers.org/clinvar/11747 ^@ NM_001110556.1(FLNA):c.544C>T (p.Gln182Ter) http://identifiers.org/clinvar/11798 ^@ NM_001127899.3(CLCN5):c.809T>G (p.Leu270Arg) http://identifiers.org/clinvar/11848 ^@ NM_000260.3(MYO7A):c.700C>T (p.Gln234Ter) http://identifiers.org/clinvar/11898 ^@ NM_000128.3(F11):c.976C>T (p.Arg326Cys) http://identifiers.org/clinvar/11948 ^@ NM_001918.3(DBT):c.294C>G (p.Ile98Met) http://identifiers.org/clinvar/12000 ^@ NM_000151.3(G6PC):c.1039C>T (p.Gln347Ter) http://identifiers.org/clinvar/12050 ^@ NM_000136.2(FANCC):c.1487T>G (p.Leu496Arg) http://identifiers.org/clinvar/12100 ^@ NM_000196.3(HSD11B2):c.343_348delGAGTTG (p.Glu115_Leu116del) http://identifiers.org/clinvar/12150 ^@ NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) http://identifiers.org/clinvar/12205 ^@ NM_000490.4(AVP):c.143G>T (p.Gly48Val) http://identifiers.org/clinvar/12256 ^@ NM_003361.3(UMOD):c.649T>C (p.Cys217Arg) http://identifiers.org/clinvar/12308 ^@ NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) http://identifiers.org/clinvar/12358 ^@ NM_000546.5(TP53):c.814G>T (p.Val272Leu) http://identifiers.org/clinvar/12409 ^@ NM_001001430.2(TNNT2):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/12461 ^@ NM_003289.3(TPM2):c.440A>C (p.Gln147Pro) http://identifiers.org/clinvar/12511 ^@ NM_003242.5(TGFBR2):c.1583G>A (p.Arg528His) http://identifiers.org/clinvar/12561 ^@ NM_001128177.1(THRB):c.1376T>G (p.Phe459Cys) http://identifiers.org/clinvar/12612 ^@ NM_005343.3(HRAS):c.35G>A (p.Gly12Asp) http://identifiers.org/clinvar/12662 ^@ NM_212472.2(PRKAR1A):c.491_492delTG (p.Val164Aspfs) http://identifiers.org/clinvar/12713 ^@ THBS2, IVS10, C-T, -8 http://identifiers.org/clinvar/12764 ^@ SURF1, IVS5DS, T-G, +2 http://identifiers.org/clinvar/12814 ^@ NM_003106.3(SOX2):c.529C>T (p.Gln177Ter) http://identifiers.org/clinvar/12864 ^@ SPTA1, IVS30, C-T, -99 http://identifiers.org/clinvar/36651 ^@ NM_033118.3(MYLK2):c.1710+15A>G http://identifiers.org/clinvar/36704 ^@ NM_002769.4(PRSS1):c.389C>T (p.Thr130Ile) http://identifiers.org/clinvar/36757 ^@ NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) http://identifiers.org/clinvar/36807 ^@ NM_000545.6(HNF1A):c.1624-19G>A http://identifiers.org/clinvar/36857 ^@ NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) http://identifiers.org/clinvar/36908 ^@ NM_000377.2(WAS):c.1197_1205delACCGCCACC (p.Pro402_Pro404del) http://identifiers.org/clinvar/37003 ^@ CDKN2A, 5-BP DUP, NT19 http://identifiers.org/clinvar/37297 ^@ NM_014956.4(CEP164):c.1573C>T (p.Gln525Ter) http://identifiers.org/clinvar/37382 ^@ NM_005732.3(RAD50):c.572C>T (p.Thr191Ile) http://identifiers.org/clinvar/37433 ^@ NM_007294.3(BRCA1):c.1912G>A (p.Glu638Lys) http://identifiers.org/clinvar/37485 ^@ NM_007294.3(BRCA1):c.2714A>G (p.Gln905Arg) http://identifiers.org/clinvar/37543 ^@ NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) http://identifiers.org/clinvar/50885 ^@ NM_002863.4(PYGL):c.1969+1_1969+4delGTAC http://identifiers.org/clinvar/38440 ^@ NM_133378.4(TTN):c.100186C>T (p.Gln33396Ter) http://identifiers.org/clinvar/38601 ^@ NM_020975.4(RET):c.1852T>A (p.Cys618Ser) http://identifiers.org/clinvar/38765 ^@ c2510-?_3246+?del http://identifiers.org/clinvar/38878 ^@ NM_000532.4(PCCB):c.1495C>T (p.Arg499Ter) http://identifiers.org/clinvar/38939 ^@ NM_001363.4(DKC1):c.1204G>A (p.Gly402Arg) http://identifiers.org/clinvar/38990 ^@ NM_004614.4(TK2):c.416C>T (p.Ala139Val) http://identifiers.org/clinvar/39041 ^@ NM_024312.4(GNPTAB):c.1959_1962delTAGT (p.Ser654Profs) http://identifiers.org/clinvar/39091 ^@ NM_024312.4(GNPTAB):c.914dupA (p.Asp305Glufs) http://identifiers.org/clinvar/39148 ^@ NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) http://identifiers.org/clinvar/39198 ^@ NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) http://identifiers.org/clinvar/39249 ^@ NM_207352.3(CYP4V2):c.1021T>C (p.Ser341Pro) http://identifiers.org/clinvar/39300 ^@ NR_001566.1(TERC):n.79delC http://identifiers.org/clinvar/39462 ^@ NM_001111.4(ADAR):c.1076_1080delAGCGA (p.Lys359Argfs) http://identifiers.org/clinvar/39513 ^@ NM_000344.3(SMN1):c.388T>C (p.Tyr130His) http://identifiers.org/clinvar/39563 ^@ DHTKD1, 1A-G http://identifiers.org/clinvar/39614 ^@ NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) http://identifiers.org/clinvar/39665 ^@ NM_020699.3(GATAD2B):c.1408C>T (p.Gln470Ter) http://identifiers.org/clinvar/39717 ^@ SEMA3A, 13-BP DEL, NT1613 http://identifiers.org/clinvar/39768 ^@ NM_001866.2(COX7B):c.41-2A>G http://identifiers.org/clinvar/39818 ^@ NM_001277269.1(OTOG):c.6347C>T (p.Pro2116Leu) http://identifiers.org/clinvar/39869 ^@ NM_003124.4(SPR):c.596-2A>G http://identifiers.org/clinvar/40062 ^@ NM_002109.5(HARS):c.410G>A (p.Arg137Gln) http://identifiers.org/clinvar/40208 ^@ NM_014813.2(LRIG2):c.2088delC (p.Ser697Hisfs) http://identifiers.org/clinvar/40347 ^@ NM_004333.4(BRAF):c.735A>C (p.Leu245Phe) http://identifiers.org/clinvar/40419 ^@ NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) http://identifiers.org/clinvar/51154 ^@ NM_000059.3(BRCA2):c.1599_1600delTG (p.Glu534Serfs) http://identifiers.org/clinvar/51205 ^@ NM_000059.3(BRCA2):c.1817C>A (p.Pro606Gln) http://identifiers.org/clinvar/51257 ^@ NM_000059.3(BRCA2):c.2224C>T (p.Gln742Ter) http://identifiers.org/clinvar/51307 ^@ NM_000059.3(BRCA2):c.2564_2565delCA (p.Thr855Lysfs) http://identifiers.org/clinvar/51358 ^@ NM_000059.3(BRCA2):c.2837A>G (p.Asp946Gly) http://identifiers.org/clinvar/51408 ^@ NM_000059.3(BRCA2):c.316+4delA http://identifiers.org/clinvar/54416 ^@ NM_007294.3(BRCA1):c.1960_1961delAA (p.Lys654Valfs) http://identifiers.org/clinvar/54466 ^@ NM_007294.3(BRCA1):c.212+2T>C http://identifiers.org/clinvar/54516 ^@ NM_007294.3(BRCA1):c.2263G>T (p.Glu755Ter) http://identifiers.org/clinvar/54566 ^@ NM_007294.3(BRCA1):c.2420C>A (p.Ala807Glu) http://identifiers.org/clinvar/54616 ^@ NM_007294.3(BRCA1):c.2603C>A (p.Ser868Ter) http://identifiers.org/clinvar/54666 ^@ NM_007294.3(BRCA1):c.273T>G (p.Cys91Trp) http://identifiers.org/clinvar/55412 ^@ NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) http://identifiers.org/clinvar/55462 ^@ NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) http://identifiers.org/clinvar/55977 ^@ NM_000111.2(SLC26A3):c.1517delC (p.Pro506Glnfs) http://identifiers.org/clinvar/56030 ^@ NM_000145.3(FSHR):c.1043C>G (p.Pro348Arg) http://identifiers.org/clinvar/56081 ^@ NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) http://identifiers.org/clinvar/56135 ^@ NM_000274.3(OAT):c.748C>T (p.Arg250Ter) http://identifiers.org/clinvar/56186 ^@ NM_000310.3(PPT1):c.271_287del17insTT (p.Gln91_Cys96delinsPhe) http://identifiers.org/clinvar/56236 ^@ NM_000481.3(AMT):c.61delG (p.Ala21Profs) http://identifiers.org/clinvar/56287 ^@ NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) http://identifiers.org/clinvar/56339 ^@ NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser) http://identifiers.org/clinvar/56390 ^@ NM_002299.3(LCT):c.4834G>T (p.Glu1612Ter) http://identifiers.org/clinvar/56441 ^@ NM_004646.3(NPHS1):c.1481delC (p.Ser494Cysfs) http://identifiers.org/clinvar/56491 ^@ NM_004646.3(NPHS1):c.2927+1G>A http://identifiers.org/clinvar/56542 ^@ NM_006493.2(CLN5):c.620G>C (p.Trp207Ser) http://identifiers.org/clinvar/56595 ^@ NM_017739.3(POMGNT1):c.1896-1G>C http://identifiers.org/clinvar/56650 ^@ NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter) http://identifiers.org/clinvar/56700 ^@ NM_017890.4(VPS13B):c.9690-2A>G http://identifiers.org/clinvar/56750 ^@ NM_030943.3(AMN):c.208-1G>C http://identifiers.org/clinvar/56826 ^@ NM_014795.3(ZEB2):c.3211T>C (p.Ser1071Pro) http://identifiers.org/clinvar/57010 ^@ GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 http://identifiers.org/clinvar/57062 ^@ GRCh38/hg38 5p14.3(chr5:21540110-22245962)x1 http://identifiers.org/clinvar/57119 ^@ GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 http://identifiers.org/clinvar/57170 ^@ GRCh38/hg38 Xq21.1(chrX:77456321-77702484)x2 http://identifiers.org/clinvar/57222 ^@ GRCh38/hg38 5p15.33-15.32(chr5:3502990-4580491)x3 http://identifiers.org/clinvar/57275 ^@ GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 http://identifiers.org/clinvar/57327 ^@ GRCh38/hg38 17q25.3(chr17:82962359-83086677)x3 http://identifiers.org/clinvar/57381 ^@ GRCh38/hg38 Xq28(chrX:155678751-155951918)x0 http://identifiers.org/clinvar/101198 ^@ NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del) http://identifiers.org/clinvar/101248 ^@ NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp) http://identifiers.org/clinvar/101298 ^@ NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter) http://identifiers.org/clinvar/101348 ^@ NP_000081.1:p.Gly1014_Pro1085del http://identifiers.org/clinvar/101398 ^@ NM_000090.3(COL3A1):c.955_974del20insTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319Phefs) http://identifiers.org/clinvar/103126 ^@ NM_022162.2(NOD2):c.2798+148A>G http://identifiers.org/clinvar/103176 ^@ NM_032206.4(NLRC5):c.3338+59G>A http://identifiers.org/clinvar/103226 ^@ NM_134444.4(NLRP4):c.446_447insA (p.Thr150Tyrfs) http://identifiers.org/clinvar/103276 ^@ NM_145007.3(NLRP11):c.271+53C>G http://identifiers.org/clinvar/103326 ^@ NM_176811.2(NLRP8):c.2332C>A (p.Leu778Ile) http://identifiers.org/clinvar/125470 ^@ NM_007294.3(BRCA1):c.-19-2_-19-1insAT http://identifiers.org/clinvar/125547 ^@ NM_007294.3(BRCA1):c.2215_2216insCT (p.Lys739Thrfs) http://identifiers.org/clinvar/125630 ^@ NM_007294.3(BRCA1):c.3351dupT (p.Gln1118Serfs) http://identifiers.org/clinvar/125697 ^@ NM_007294.3(BRCA1):c.4186-19C>T http://identifiers.org/clinvar/125760 ^@ NM_007294.3(BRCA1):c.5075-53C>T http://identifiers.org/clinvar/125837 ^@ NM_007294.3(BRCA1):c.5406+2del http://identifiers.org/clinvar/125897 ^@ NM_007294.3(BRCA1):c.594-20A>G http://identifiers.org/clinvar/125960 ^@ U43746.1:n.2001_2004delTATT http://identifiers.org/clinvar/126023 ^@ NM_000059.3(BRCA2):c.3807T>G (p.Val1269=) http://identifiers.org/clinvar/126097 ^@ U43746.1:n.654-84T>C http://identifiers.org/clinvar/126157 ^@ NM_000059.3(BRCA2):c.7791dupA (p.Glu2598Argfs) http://identifiers.org/clinvar/126217 ^@ NM_000059.3(BRCA2):c.9672dupA (p.Tyr3225Ilefs) http://identifiers.org/clinvar/126275 ^@ NM_015272.4(RPGRIP1L):c.1341G>A (p.Leu447=) http://identifiers.org/clinvar/126326 ^@ NM_020732.3(ARID1B):c.3459G>A (p.Glu1153=) http://identifiers.org/clinvar/126382 ^@ NM_005603.4(ATP8B1):c.1993G>T (p.Glu665Ter) http://identifiers.org/clinvar/126446 ^@ NM_020949.2(SLC7A14):c.988G>A (p.Gly330Arg) http://identifiers.org/clinvar/126506 ^@ NM_012338.3(TSPAN12):c.285+1G>A http://identifiers.org/clinvar/126587 ^@ NM_024675.3(PALB2):c.1056_1057delGA (p.Lys353Ilefs) http://identifiers.org/clinvar/126637 ^@ NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) http://identifiers.org/clinvar/126689 ^@ NM_024675.3(PALB2):c.2835-27C>T http://identifiers.org/clinvar/126739 ^@ NM_024675.3(PALB2):c.3362delG (p.Gly1121Valfs) http://identifiers.org/clinvar/126790 ^@ NM_000321.2(RB1):c.1927A>G (p.Lys643Glu) http://identifiers.org/clinvar/126841 ^@ NM_000321.2(RB1):c.1688G>A (p.Trp563Ter) http://identifiers.org/clinvar/126900 ^@ NM_001005735.1(CHEK2):c.813-4C>G http://identifiers.org/clinvar/126950 ^@ NM_000428.2(LTBP2):c.1484G>A (p.Arg495Gln) http://identifiers.org/clinvar/127000 ^@ NM_005732.3(RAD50):c.2719-31A>G http://identifiers.org/clinvar/127050 ^@ NM_134424.3(RAD52):c.*320C>A http://identifiers.org/clinvar/127107 ^@ NM_005013.2(NUCB2):c.-427A>C http://identifiers.org/clinvar/127188 ^@ NM_001100.3(ACTA1):c.1074G>T (p.Trp358Cys) http://identifiers.org/clinvar/127273 ^@ NM_002448.3(MSX1):c.910_911dupTA (p.Ter304Tyrfs) http://identifiers.org/clinvar/127324 ^@ NM_000038.5(APC):c.8233C>A (p.Pro2745Thr) http://identifiers.org/clinvar/127374 ^@ NM_000051.3(ATM):c.3802delG (p.Val1268Terfs) http://identifiers.org/clinvar/161100 ^@ NM_030777.3(SLC2A10):c.1309G>A (p.Glu437Lys) http://identifiers.org/clinvar/161150 ^@ NM_152296.4(ATP1A3):c.2780G>T (p.Cys927Phe) http://identifiers.org/clinvar/161382 ^@ NM_001035.2(RYR2):c.556G>A (p.Val186Met) http://identifiers.org/clinvar/161232 ^@ NM_000118.3(ENG):c.392C>T (p.Pro131Leu) http://identifiers.org/clinvar/161332 ^@ NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) http://identifiers.org/clinvar/161282 ^@ NM_000527.4(LDLR):c.967G>A (p.Gly323Ser) http://identifiers.org/clinvar/161449 ^@ NM_001851.4(COL9A1):c.1519C>T (p.Arg507Ter) http://identifiers.org/clinvar/161701 ^@ NM_016300.4(ARPP21):c.1355G>T (p.Gly452Val) http://identifiers.org/clinvar/161651 ^@ NM_006790.2(MYOT):c.686G>T (p.Ser229Ile) http://identifiers.org/clinvar/161601 ^@ NM_002847.4(PTPRN2):c.2339T>C (p.Leu780Pro) http://identifiers.org/clinvar/161501 ^@ NM_001033578.2(SGK3):c.782A>G (p.His261Arg) http://identifiers.org/clinvar/161751 ^@ NM_021819.2(LMAN1L):c.1338G>T (p.Lys446Asn) http://identifiers.org/clinvar/161801 ^@ NM_133473.3(ZNF431):c.1021G>A (p.Glu341Lys) http://identifiers.org/clinvar/161551 ^@ NM_001177465.2(MAMLD1):c.1916G>T (p.Ser639Ile) http://identifiers.org/clinvar/161851 ^@ NM_198270.3(NHS):c.2141G>A (p.Arg714His) http://identifiers.org/clinvar/162027 ^@ NM_000257.3(MYH7):c.2187C>A (p.Ala729=) http://identifiers.org/clinvar/162085 ^@ NM_000834.3(GRIN2B):c.1853T>G (p.Val618Gly) http://identifiers.org/clinvar/162148 ^@ NM_000033.3(ABCD1):c.253dupC (p.Arg85Profs) http://identifiers.org/clinvar/162213 ^@ NM_032228.5(FAR1):c.787C>T (p.Arg263Ter) http://identifiers.org/clinvar/162414 ^@ NM_170707.3(LMNA):c.1968+2T>A http://identifiers.org/clinvar/162495 ^@ NM_000318.2(PEX2):c.865dupA (p.Ser289Lysfs) http://identifiers.org/clinvar/162569 ^@ NM_001079802.1(FKTN):c.1371_1381dupTATCCAGTTAT (p.Tyr461Leufs) http://identifiers.org/clinvar/179809 ^@ NM_170707.3(LMNA):c.1609-1G>A http://identifiers.org/clinvar/178651 ^@ NM_206933.2(USH2A):c.6257C>A (p.Thr2086Asn) http://identifiers.org/clinvar/178351 ^@ NM_024009.2(GJB3):c.479G>A (p.Arg160His) http://identifiers.org/clinvar/164809 ^@ NM_002524.4(NRAS):c.368G>A (p.Arg123Lys) http://identifiers.org/clinvar/162821 ^@ NM_001232.3(CASQ2):c.333A>G (p.Glu111=) http://identifiers.org/clinvar/165703 ^@ NM_133378.4(TTN):c.88611T>G (p.Thr29537=) http://identifiers.org/clinvar/166513 ^@ NM_206933.2(USH2A):c.3043C>T (p.His1015Tyr) http://identifiers.org/clinvar/178920 ^@ NM_133378.4(TTN):c.99123T>G (p.Ile33041Met) http://identifiers.org/clinvar/178201 ^@ NM_133378.4(TTN):c.56978G>T (p.Gly18993Val) http://identifiers.org/clinvar/178819 ^@ NM_133378.4(TTN):c.52695delA (p.Ser17566Glnfs) http://identifiers.org/clinvar/178151 ^@ NM_133378.4(TTN):c.99673+14C>T http://identifiers.org/clinvar/165861 ^@ NM_133378.4(TTN):c.62160A>G (p.Ile20720Met) http://identifiers.org/clinvar/165957 ^@ NM_001256850.1(TTN):c.52047T>C (p.Pro17349=) http://identifiers.org/clinvar/167756 ^@ NM_001256850.1(TTN):c.97828A>G (p.Met32610Val) http://identifiers.org/clinvar/179759 ^@ NM_133378.4(TTN):c.73617C>G (p.Tyr24539Ter) http://identifiers.org/clinvar/179909 ^@ NM_133378.4(TTN):c.72586G>A (p.Gly24196Arg) http://identifiers.org/clinvar/166007 ^@ NM_133378.4(TTN):c.42776G>A (p.Arg14259Gln) http://identifiers.org/clinvar/166151 ^@ NM_133378.4(TTN):c.21232G>T (p.Val7078Leu) http://identifiers.org/clinvar/178251 ^@ NM_133378.4(TTN):c.14575+12A>G http://identifiers.org/clinvar/166263 ^@ NM_133379.4(TTN):c.13614A>C (p.Gln4538His) http://identifiers.org/clinvar/177950 ^@ NM_005633.3(SOS1):c.*4C>T (p.Gln2Ter) http://identifiers.org/clinvar/165207 ^@ NM_198843.2(SFTPB):c.84G>A (p.Thr28=) http://identifiers.org/clinvar/163131 ^@ NM_001369.2(DNAH5):c.13569C>A (p.Asp4523Glu) http://identifiers.org/clinvar/166313 ^@ NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) http://identifiers.org/clinvar/166601 ^@ NM_006005.3(WFS1):c.2013G>A (p.Ala671=) http://identifiers.org/clinvar/165150 ^@ NM_198056.2(SCN5A):c.2437-13C>T http://identifiers.org/clinvar/163286 ^@ NM_004415.3(DSP):c.7275C>G (p.Thr2425=) http://identifiers.org/clinvar/162753 ^@ NM_003664.4(AP3B1):c.1754T>A (p.Val585Glu) http://identifiers.org/clinvar/198920 ^@ NM_153026.2(PRICKLE1):c.2105G>A (p.Arg702Gln) http://identifiers.org/clinvar/198972 ^@ NM_032119.3(ADGRV1):c.18433-5delT http://identifiers.org/clinvar/199023 ^@ NM_000441.1(SLC26A4):c.1040C>T (p.Ser347Leu) http://identifiers.org/clinvar/199073 ^@ NM_001927.3(DES):c.1372-8C>T http://identifiers.org/clinvar/199128 ^@ NM_012448.3(STAT5B):c.993G>A (p.Thr331=) http://identifiers.org/clinvar/199178 ^@ NM_033071.3(SYNE1):c.611G>A (p.Gly204Glu) http://identifiers.org/clinvar/199234 ^@ NM_005529.6(HSPG2):c.12874G>A (p.Glu4292Lys) http://identifiers.org/clinvar/200926 ^@ NM_170707.3(LMNA):c.810+12C>T http://identifiers.org/clinvar/201176 ^@ NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) http://identifiers.org/clinvar/199735 ^@ NM_000090.3(COL3A1):c.2689G>A (p.Gly897Ser) http://identifiers.org/clinvar/199844 ^@ NM_004415.3(DSP):c.5779C>G (p.Gln1927Glu) http://identifiers.org/clinvar/199901 ^@ NM_004415.3(DSP):c.6397G>A (p.Gly2133Ser) http://identifiers.org/clinvar/200697 ^@ NM_000238.3(KCNH2):c.3099_3109delGCCCCGGGGCG (p.Pro1034Argfs) http://identifiers.org/clinvar/200434 ^@ NM_000238.3(KCNH2):c.2380G>A (p.Val794Ile) http://identifiers.org/clinvar/200278 ^@ NM_000238.3(KCNH2):c.379C>T (p.Leu127Phe) http://identifiers.org/clinvar/200592 ^@ NM_000238.3(KCNH2):c.26C>T (p.Ala9Val) http://identifiers.org/clinvar/199677 ^@ NM_001613.2(ACTA2):c.855G>T (p.Met285Ile) http://identifiers.org/clinvar/200812 ^@ NM_000218.2(KCNQ1):c.1476A>G (p.Glu492=) http://identifiers.org/clinvar/200865 ^@ NM_000218.2(KCNQ1):c.1999G>A (p.Val667Met) http://identifiers.org/clinvar/200995 ^@ NM_130799.2(MEN1):c.147dupT (p.Val50Cysfs) http://identifiers.org/clinvar/200128 ^@ NM_000138.4(FBN1):c.8108G>T (p.Gly2703Val) http://identifiers.org/clinvar/200071 ^@ NM_000138.4(FBN1):c.5918A>G (p.Asp1973Gly) http://identifiers.org/clinvar/200183 ^@ NM_000138.4(FBN1):c.3506G>T (p.Gly1169Val) http://identifiers.org/clinvar/200016 ^@ NM_000138.4(FBN1):c.3389A>G (p.His1130Arg) http://identifiers.org/clinvar/199959 ^@ NM_000138.4(FBN1):c.814A>C (p.Lys272Gln) http://identifiers.org/clinvar/201056 ^@ NM_002474.2(MYH11):c.2648C>T (p.Ser883Leu) http://identifiers.org/clinvar/201109 ^@ NM_002474.2(MYH11):c.1528G>A (p.Asp510Asn) http://identifiers.org/clinvar/199791 ^@ NM_001943.4(DSG2):c.2112T>G (p.Ile704Met) http://identifiers.org/clinvar/231195 ^@ NM_000038.5(APC):c.5973delG (p.Glu1991Aspfs) http://identifiers.org/clinvar/232646 ^@ NM_005732.3(RAD50):c.130A>T (p.Thr44Ser) http://identifiers.org/clinvar/229756 ^@ NM_005732.3(RAD50):c.2176C>T (p.Arg726Cys) http://identifiers.org/clinvar/232445 ^@ NM_000535.6(PMS2):c.1916G>A (p.Ser639Asn) http://identifiers.org/clinvar/232495 ^@ NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) http://identifiers.org/clinvar/231145 ^@ NM_000368.4(TSC1):c.1091A>T (p.Asn364Ile) http://identifiers.org/clinvar/229806 ^@ NM_000077.4(CDKN2A):c.250G>A (p.Asp84Asn) http://identifiers.org/clinvar/229656 ^@ NM_000314.6(PTEN):c.802-5_802-3delTTT http://identifiers.org/clinvar/231695 ^@ NM_000051.3(ATM):c.69A>G (p.Arg23=) http://identifiers.org/clinvar/232545 ^@ NM_000051.3(ATM):c.577G>C (p.Ala193Pro) http://identifiers.org/clinvar/231545 ^@ NM_000051.3(ATM):c.3152A>G (p.Glu1051Gly) http://identifiers.org/clinvar/229856 ^@ NM_000051.3(ATM):c.8666A>G (p.Asp2889Gly) http://identifiers.org/clinvar/231445 ^@ NM_005591.3(MRE11):c.1642A>G (p.Ile548Val) http://identifiers.org/clinvar/231995 ^@ NM_000059.3(BRCA2):c.2848G>A (p.Val950Ile) http://identifiers.org/clinvar/232245 ^@ NM_024675.3(PALB2):c.3096G>C (p.Met1032Ile) http://identifiers.org/clinvar/229706 ^@ NM_024675.3(PALB2):c.2917A>G (p.Thr973Ala) http://identifiers.org/clinvar/230745 ^@ NM_024675.3(PALB2):c.2815T>G (p.Leu939Val) http://identifiers.org/clinvar/232145 ^@ NM_024675.3(PALB2):c.2628T>G (p.Phe876Leu) http://identifiers.org/clinvar/232295 ^@ NM_024675.3(PALB2):c.48+2T>G http://identifiers.org/clinvar/231745 ^@ NM_004360.4(CDH1):c.125C>T (p.Pro42Leu) http://identifiers.org/clinvar/232395 ^@ NM_004360.4(CDH1):c.148C>A (p.Arg50Ser) http://identifiers.org/clinvar/232345 ^@ NM_001042492.2(NF1):c.5290G>A (p.Val1764Ile) http://identifiers.org/clinvar/231795 ^@ NM_001042492.2(NF1):c.6681C>A (p.Asp2227Glu) http://identifiers.org/clinvar/231245 ^@ NM_007294.3(BRCA1):c.3462A>G (p.Leu1154=) http://identifiers.org/clinvar/231345 ^@ NM_032043.2(BRIP1):c.110A>G (p.Asn37Ser) http://identifiers.org/clinvar/230695 ^@ NM_000546.5(TP53):c.908G>A (p.Ser303Asn) http://identifiers.org/clinvar/230795 ^@ NM_000455.4(STK11):c.115C>T (p.Arg39Cys) http://identifiers.org/clinvar/231595 ^@ NM_007194.3(CHEK2):c.1459C>T (p.Gln487Ter) http://identifiers.org/clinvar/230645 ^@ NM_007194.3(CHEK2):c.1195G>A (p.Val399Ile) http://identifiers.org/clinvar/231395 ^@ NM_007194.3(CHEK2):c.875_876delTT (p.Phe292Terfs) http://identifiers.org/clinvar/235422 ^@ NM_006019.3(TCIRG1):c.1166-970A>G http://identifiers.org/clinvar/235477 ^@ NC_012920.1:m.13926T>C http://identifiers.org/clinvar/235530 ^@ NM_005045.3(RELN):c.1231C>A (p.Leu411Ile) http://identifiers.org/clinvar/235581 ^@ NC_012920.1:m.15833C>T http://identifiers.org/clinvar/235631 ^@ NC_012920.1:m.9072A>G http://identifiers.org/clinvar/235685 ^@ NM_001031847.2(CPT1A):c.557A>G (p.Tyr186Cys) http://identifiers.org/clinvar/235747 ^@ NM_000528.3(MAN2B1):c.935C>A (p.Thr312Asn) http://identifiers.org/clinvar/242398 ^@ NM_001567.3(INPPL1):c.1687_1691delACCTC (p.Thr563Glyfs) http://identifiers.org/clinvar/235893 ^@ NM_015265.3(SATB2):c.1495A>T (p.Lys499Ter) http://identifiers.org/clinvar/240084 ^@ NM_004980.4(KCND3):c.669G>C (p.Ser223=) http://identifiers.org/clinvar/239434 ^@ NM_003000.2(SDHB):c.606C>T (p.Asn202=) http://identifiers.org/clinvar/238241 ^@ NM_001035.2(RYR2):c.8247C>T (p.Asp2749=) http://identifiers.org/clinvar/240685 ^@ NM_006516.2(SLC2A1):c.797C>G (p.Pro266Arg) http://identifiers.org/clinvar/238341 ^@ NM_001128425.1(MUTYH):c.1552delA (p.Ser518Valfs) http://identifiers.org/clinvar/238791 ^@ NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln) http://identifiers.org/clinvar/238741 ^@ NM_001267550.2(TTN):c.32199A>T (p.Val10733=) http://identifiers.org/clinvar/238691 ^@ NM_001267550.2(TTN):c.10115-4G>A http://identifiers.org/clinvar/237741 ^@ NM_000384.2(APOB):c.1672C>T (p.Arg558Ter) http://identifiers.org/clinvar/237841 ^@ NM_000465.3(BARD1):c.59C>T (p.Pro20Leu) http://identifiers.org/clinvar/239834 ^@ NM_004304.4(ALK):c.4232T>C (p.Val1411Ala) http://identifiers.org/clinvar/237390 ^@ NM_000251.2(MSH2):c.2518G>A (p.Val840Ile) http://identifiers.org/clinvar/239584 ^@ NM_003896.3(ST3GAL5):c.850-5C>T http://identifiers.org/clinvar/242174 ^@ NM_181426.1(CCDC39):c.2669+6C>T http://identifiers.org/clinvar/237340 ^@ NM_000249.3(MLH1):c.546-9C>G http://identifiers.org/clinvar/238591 ^@ NM_001148.4(ANK2):c.792+10G>A http://identifiers.org/clinvar/240335 ^@ NM_006206.4(PDGFRA):c.276G>A (p.Ala92=) http://identifiers.org/clinvar/237240 ^@ NM_000222.2(KIT):c.1296A>T (p.Gly432=) http://identifiers.org/clinvar/242224 ^@ NM_198253.2(TERT):c.2127C>G (p.Val709=) http://identifiers.org/clinvar/240235 ^@ NM_005732.3(RAD50):c.3266_3273delAGAAAGAAinsT (p.Lys1089Ilefs) http://identifiers.org/clinvar/239684 ^@ NM_004168.3(SDHA):c.899T>C (p.Ile300Thr) http://identifiers.org/clinvar/239634 ^@ NM_004168.3(SDHA):c.1054C>T (p.Arg352Ter) http://identifiers.org/clinvar/240285 ^@ NM_006073.3(TRDN):c.1997C>A (p.Ala666Asp) http://identifiers.org/clinvar/238641 ^@ NM_001206927.1(DNAH8):c.270G>C (p.Pro90=) http://identifiers.org/clinvar/237290 ^@ NM_000238.3(KCNH2):c.1467C>A (p.Ile489=) http://identifiers.org/clinvar/238891 ^@ NM_001277115.1(DNAH11):c.12612G>T (p.Pro4204=) http://identifiers.org/clinvar/237891 ^@ NM_000535.6(PMS2):c.1703C>A (p.Pro568Gln) http://identifiers.org/clinvar/262773 ^@ NM_153717.2(EVC):c.2305-44C>T http://identifiers.org/clinvar/257994 ^@ NM_001369.2(DNAH5):c.12280-17T>C http://identifiers.org/clinvar/258044 ^@ NM_001369.2(DNAH5):c.5272-39T>A http://identifiers.org/clinvar/263023 ^@ NM_182925.4(FLT4):c.1308G>A (p.Ser436=) http://identifiers.org/clinvar/255405 ^@ NM_000163.4(GHR):c.619-28A>G http://identifiers.org/clinvar/256055 ^@ NM_000426.3(LAMA2):c.1884+50A>C http://identifiers.org/clinvar/262173 ^@ NM_033071.3(SYNE1):c.17991G>C (p.Leu5997Phe) http://identifiers.org/clinvar/260434 ^@ NM_014780.4(CUL7):c.1590A>C (p.Leu530=) http://identifiers.org/clinvar/260184 ^@ NM_012120.2(CD2AP):c.1417+19C>T http://identifiers.org/clinvar/262423 ^@ NM_138694.3(PKHD1):c.880+42A>G http://identifiers.org/clinvar/258344 ^@ NM_001851.4(COL9A1):c.1504-32T>G http://identifiers.org/clinvar/256155 ^@ NM_000441.1(SLC26A4):c.1708-18T>A http://identifiers.org/clinvar/256255 ^@ NM_000492.3(CFTR):c.4243-5C>T http://identifiers.org/clinvar/258144 ^@ NM_001458.4(FLNC):c.4947C>T (p.Gly1649=) http://identifiers.org/clinvar/257944 ^@ NM_001277115.1(DNAH11):c.990C>T (p.Leu330=) http://identifiers.org/clinvar/257894 ^@ NM_001277115.1(DNAH11):c.4255-12delT http://identifiers.org/clinvar/257844 ^@ NM_001277115.1(DNAH11):c.10485G>A (p.Val3495=) http://identifiers.org/clinvar/263123 ^@ NM_198428.2(BBS9):c.2220G>A (p.Leu740=) http://identifiers.org/clinvar/260684 ^@ NM_016038.3(SBDS):c.258+19A>G http://identifiers.org/clinvar/260934 ^@ NM_017802.3(DNAAF5):c.2490C>T (p.Ala830=) http://identifiers.org/clinvar/254955 ^@ NM_000089.3(COL1A2):c.246T>C (p.Asp82=) http://identifiers.org/clinvar/255055 ^@ NM_000093.4(COL5A1):c.1720-47C>T http://identifiers.org/clinvar/255455 ^@ NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) http://identifiers.org/clinvar/260384 ^@ NM_014290.2(TDRD7):c.588A>G (p.Gln196=) http://identifiers.org/clinvar/257344 ^@ NM_001080449.2(DNA2):c.2782G>A (p.Val928Ile) http://identifiers.org/clinvar/260234 ^@ NM_012330.3(KAT6B):c.1887C>T (p.His629=) http://identifiers.org/clinvar/256105 ^@ NM_000429.2(MAT1A):c.426T>C (p.Ala142=) http://identifiers.org/clinvar/260734 ^@ NM_016341.3(PLCE1):c.960G>A (p.Glu320=) http://identifiers.org/clinvar/255505 ^@ NM_000195.4(HPS1):c.678C>T (p.Ala226=) http://identifiers.org/clinvar/260484 ^@ NM_014956.4(CEP164):c.3144T>A (p.Val1048=) http://identifiers.org/clinvar/260784 ^@ NM_016952.4(CDON):c.2037G>A (p.Ala679=) http://identifiers.org/clinvar/257594 ^@ NM_001173991.2(TMEM216):c.*21A>G http://identifiers.org/clinvar/259834 ^@ NM_005609.3(PYGM):c.2313-47T>C http://identifiers.org/clinvar/255955 ^@ NM_000372.4(TYR):c.-10T>C http://identifiers.org/clinvar/259984 ^@ NM_006446.4(SLCO1B1):c.571T>C (p.Leu191=) http://identifiers.org/clinvar/258194 ^@ NM_001843.3(CNTN1):c.2553A>G (p.Glu851=) http://identifiers.org/clinvar/257144 ^@ NM_001025356.2(ANO6):c.1920T>G (p.Ser640=) http://identifiers.org/clinvar/258244 ^@ NM_001844.4(COL2A1):c.762+15G>A http://identifiers.org/clinvar/255755 ^@ NM_000289.5(PFKM):c.1880+32G>C http://identifiers.org/clinvar/262573 ^@ NM_145064.2(STAC3):c.355C>T (p.Arg119Cys) http://identifiers.org/clinvar/261823 ^@ NM_025114.3(CEP290):c.*19_*22delGTTT http://identifiers.org/clinvar/258844 ^@ NM_002863.4(PYGL):c.424+6T>A http://identifiers.org/clinvar/261923 ^@ NM_030621.4(DICER1):c.3465G>T (p.Thr1155=) http://identifiers.org/clinvar/262373 ^@ NM_138477.2(CDAN1):c.2872C>T (p.Leu958=) http://identifiers.org/clinvar/255155 ^@ NM_000119.2(EPB42):c.744+7G>A http://identifiers.org/clinvar/263273 ^@ NM_205850.2(SLC24A5):c.331A>G (p.Thr111Ala) http://identifiers.org/clinvar/255305 ^@ NM_000138.4(FBN1):c.6497-49G>A http://identifiers.org/clinvar/255655 ^@ NM_000259.3(MYO5A):c.4965T>C (p.Asp1655=) http://identifiers.org/clinvar/332529 ^@ NM_003659.3(AGPS):c.*378G>A http://identifiers.org/clinvar/335670 ^@ NM_001029883.2(C2orf71):c.634C>T (p.Arg212Trp) http://identifiers.org/clinvar/332579 ^@ NM_003659.3(AGPS):c.*3060A>G http://identifiers.org/clinvar/335770 ^@ NM_000379.3(XDH):c.2634T>C (p.Ile878=) http://identifiers.org/clinvar/332629 ^@ NM_003690.4(PRKRA):c.397-7_397-6insCA http://identifiers.org/clinvar/332679 ^@ NM_133378.4(TTN):c.99222C>T (p.Gly33074=) http://identifiers.org/clinvar/333129 ^@ NM_000393.4(COL5A2):c.*46C>A http://identifiers.org/clinvar/335270 ^@ NM_004321.7(KIF1A):c.3043G>A (p.Glu1015Lys) http://identifiers.org/clinvar/335970 ^@ NM_005633.3(SOS1):c.*3724T>C http://identifiers.org/clinvar/336020 ^@ NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) http://identifiers.org/clinvar/333329 ^@ NM_001006657.1(WDR35):c.*2726A>G http://identifiers.org/clinvar/336220 ^@ NM_001430.4(EPAS1):c.-452A>C http://identifiers.org/clinvar/333079 ^@ NM_000090.3(COL3A1):c.*354C>T http://identifiers.org/clinvar/335520 ^@ NM_002437.4(MPV17):c.*360G>C http://identifiers.org/clinvar/333629 ^@ NM_001204.6(BMPR2):c.-669G>A http://identifiers.org/clinvar/333229 ^@ NM_005259.2(MSTN):c.*273C>G http://identifiers.org/clinvar/333679 ^@ NM_001204.6(BMPR2):c.*2769T>A http://identifiers.org/clinvar/335870 ^@ NM_014946.3(SPAST):c.*1858T>G http://identifiers.org/clinvar/333829 ^@ NM_014929.3(FASTKD2):c.*1438_*1449delAAAAAAAAAAAA http://identifiers.org/clinvar/335920 ^@ NM_000104.3(CYP1B1):c.*1871C>T http://identifiers.org/clinvar/333879 ^@ NM_006891.3(CRYGD):c.-77T>C http://identifiers.org/clinvar/336070 ^@ NM_022437.2(ABCG8):c.628G>A (p.Val210Met) http://identifiers.org/clinvar/333779 ^@ NM_005006.6(NDUFS1):c.*27C>T http://identifiers.org/clinvar/336320 ^@ NM_001430.4(EPAS1):c.*1746G>A http://identifiers.org/clinvar/334331 ^@ NM_015488.4(PNKD):c.*38G>A http://identifiers.org/clinvar/342267 ^@ NM_033084.4(FANCD2):c.1401G>A (p.Thr467=) http://identifiers.org/clinvar/334381 ^@ NM_025216.2(WNT10A):c.-358G>A http://identifiers.org/clinvar/342417 ^@ NM_000551.3(VHL):c.*687C>A http://identifiers.org/clinvar/334481 ^@ NM_015311.2(OBSL1):c.4128T>C (p.Asp1376=) http://identifiers.org/clinvar/342767 ^@ NM_001023570.3(IQCB1):c.*226T>C http://identifiers.org/clinvar/335320 ^@ NM_152783.4(D2HGDH):c.1453G>A (p.Val485Ile) http://identifiers.org/clinvar/335370 ^@ NM_000182.4(HADHA):c.*355C>T http://identifiers.org/clinvar/342517 ^@ NM_198196.2(CD96):c.-51A>G http://identifiers.org/clinvar/335620 ^@ NM_001029883.2(C2orf71):c.*857C>T http://identifiers.org/clinvar/342667 ^@ NM_020754.3(ARHGAP31):c.3256G>A (p.Ala1086Thr) http://identifiers.org/clinvar/343606 ^@ NM_001184.3(ATR):c.4323A>G (p.Gln1441=) http://identifiers.org/clinvar/343756 ^@ NM_000096.3(CP):c.2554+14C>G http://identifiers.org/clinvar/335420 ^@ NM_194248.2(OTOF):c.*867C>T http://identifiers.org/clinvar/335820 ^@ NM_000348.3(SRD5A2):c.-55G>A http://identifiers.org/clinvar/335570 ^@ NM_001029883.2(C2orf71):c.*3050C>T http://identifiers.org/clinvar/344056 ^@ NM_001041.3(SI):c.1380T>C (p.Ser460=) http://identifiers.org/clinvar/335720 ^@ NM_004304.4(ALK):c.-156G>T http://identifiers.org/clinvar/344106 ^@ NM_145860.1(PDCD10):c.*87A>T http://identifiers.org/clinvar/357312 ^@ NM_003221.3(TFAP2B):c.*1415G>C http://identifiers.org/clinvar/357512 ^@ NM_018100.3(EFHC1):c.*1180G>A http://identifiers.org/clinvar/357612 ^@ NM_001723.5(DST):c.1009A>T (p.Ile337Phe) http://identifiers.org/clinvar/354772 ^@ NM_001242957.2(MAK):c.*1373C>T http://identifiers.org/clinvar/357712 ^@ NM_001142800.1(EYS):c.4440A>G (p.Arg1480=) http://identifiers.org/clinvar/357762 ^@ NM_001142800.1(EYS):c.-500A>G http://identifiers.org/clinvar/358362 ^@ NM_198999.2(SLC26A5):c.-157_-155delCCT http://identifiers.org/clinvar/359001 ^@ NM_020632.2(ATP6V0A4):c.*111C>A http://identifiers.org/clinvar/359051 ^@ NM_018238.3(AGK):c.-139G>A http://identifiers.org/clinvar/359301 ^@ NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) http://identifiers.org/clinvar/359651 ^@ NM_001277115.1(DNAH11):c.7292G>T (p.Ser2431Ile) http://identifiers.org/clinvar/352233 ^@ NM_001135243.1(TCOF1):c.3782-9_3782-6delTCTC http://identifiers.org/clinvar/356362 ^@ NM_148919.3(PSMB8):c.701A>G (p.Tyr234Cys) http://identifiers.org/clinvar/352333 ^@ NM_000337.5(SGCD):c.383-14T>C http://identifiers.org/clinvar/356462 ^@ NM_003322.5(TULP1):c.*278C>T http://identifiers.org/clinvar/359851 ^@ NM_004403.2(DFNA5):c.584C>T (p.Ala195Val) http://identifiers.org/clinvar/352483 ^@ NM_005546.3(ITK):c.*664G>A http://identifiers.org/clinvar/352183 ^@ NM_005211.3(CSF1R):c.-102C>T http://identifiers.org/clinvar/359901 ^@ NM_018947.5(CYCS):c.*2776C>G http://identifiers.org/clinvar/352533 ^@ NM_001099287.1(NIPAL4):c.*568_*572dupAGACC http://identifiers.org/clinvar/356562 ^@ NM_001145717.1(PNPLA1):c.715-9C>T http://identifiers.org/clinvar/360001 ^@ NM_002047.3(GARS):c.-36C>T http://identifiers.org/clinvar/360101 ^@ NM_133468.4(BMPER):c.408C>T (p.Gly136=) http://identifiers.org/clinvar/352633 ^@ NM_000816.3(GABRG2):c.-154C>T http://identifiers.org/clinvar/360251 ^@ NM_000168.5(GLI3):c.748C>T (p.Pro250Ser) http://identifiers.org/clinvar/356962 ^@ NM_006502.2(POLH):c.*2269C>T http://identifiers.org/clinvar/352683 ^@ NM_001034850.2(RETREG1):c.*71dupA http://identifiers.org/clinvar/352733 ^@ NM_001017995.2(SH3PXD2B):c.*4561G>A http://identifiers.org/clinvar/357062 ^@ NM_020745.3(AARS2):c.2146-11C>T http://identifiers.org/clinvar/352933 ^@ NM_022455.4(NSD1):c.*4199T>G http://identifiers.org/clinvar/352833 ^@ NM_001017995.2(SH3PXD2B):c.-79C>A http://identifiers.org/clinvar/353133 ^@ NM_014244.4(ADAMTS2):c.748G>A (p.Ala250Thr) http://identifiers.org/clinvar/352983 ^@ NM_003052.4(SLC34A1):c.*361T>C http://identifiers.org/clinvar/353433 ^@ NM_023073.3(C5orf42):c.7478G>T (p.Arg2493Leu) http://identifiers.org/clinvar/353533 ^@ NM_002310.5(LIFR):c.*5634T>C http://identifiers.org/clinvar/358012 ^@ NM_004999.3(MYO6):c.*1232C>T http://identifiers.org/clinvar/353483 ^@ NM_000514.3(GDNF):c.*2014G>A http://identifiers.org/clinvar/358112 ^@ NM_181714.3(LCA5):c.-406G>A http://identifiers.org/clinvar/306396 ^@ NM_012193.3(FZD4):c.*345A>G http://identifiers.org/clinvar/363910 ^@ NM_002485.4(NBN):c.*226T>C http://identifiers.org/clinvar/303791 ^@ NM_000352.4(ABCC8):c.-72G>A http://identifiers.org/clinvar/306896 ^@ NM_000618.4(IGF1):c.*1354A>G http://identifiers.org/clinvar/307246 ^@ NM_002834.4(PTPN11):c.*1536T>G http://identifiers.org/clinvar/307296 ^@ NM_000192.3(TBX5):c.*306C>T http://identifiers.org/clinvar/307896 ^@ NM_019844.3(SLCO1B3):c.767G>C (p.Gly256Ala) http://identifiers.org/clinvar/365099 ^@ NM_000118.3(ENG):c.-70delC http://identifiers.org/clinvar/364949 ^@ NM_002316.3(LMX1B):c.*1997G>A http://identifiers.org/clinvar/308246 ^@ NM_000719.6(CACNA1C):c.*4532G>A http://identifiers.org/clinvar/365299 ^@ NM_007171.3(POMT1):c.*693C>T http://identifiers.org/clinvar/308296 ^@ NM_139241.3(FGD4):c.1198C>G (p.Leu400Val) http://identifiers.org/clinvar/365349 ^@ NM_015046.5(SETX):c.6313C>T (p.Arg2105Trp) http://identifiers.org/clinvar/365499 ^@ NM_000368.4(TSC1):c.*376C>T http://identifiers.org/clinvar/365599 ^@ NM_014694.3(ADAMTSL2):c.1641C>T (p.His547=) http://identifiers.org/clinvar/309035 ^@ NM_003482.3(KMT2D):c.9959C>T (p.Ala3320Val) http://identifiers.org/clinvar/309235 ^@ NM_000486.5(AQP2):c.607-12G>T http://identifiers.org/clinvar/309335 ^@ NM_002234.3(KCNA5):c.258A>C (p.Pro86=) http://identifiers.org/clinvar/365950 ^@ NM_016219.4(MAN1B1):c.657C>T (p.Thr219=) http://identifiers.org/clinvar/309385 ^@ NM_014191.3(SCN8A):c.*1149T>C http://identifiers.org/clinvar/366000 ^@ NM_024757.4(EHMT1):c.633C>T (p.Val211=) http://identifiers.org/clinvar/309535 ^@ NM_002282.3(KRT83):c.480T>C (p.Phe160=) http://identifiers.org/clinvar/366150 ^@ NM_144966.5(FREM1):c.2169+11A>C http://identifiers.org/clinvar/309635 ^@ NM_006121.3(KRT1):c.*91T>C http://identifiers.org/clinvar/309735 ^@ NM_015665.5(AAAS):c.414T>C (p.Asp138=) http://identifiers.org/clinvar/309935 ^@ NM_004984.2(KIF5A):c.566C>T (p.Ser189Leu) http://identifiers.org/clinvar/309985 ^@ NM_000075.3(CDK4):c.-123T>G http://identifiers.org/clinvar/366050 ^@ NM_144966.5(FREM1):c.*2664A>G http://identifiers.org/clinvar/302552 ^@ NM_001558.3(IL10RA):c.810+10G>A http://identifiers.org/clinvar/310385 ^@ NM_173353.3(TPH2):c.678G>A (p.Glu226=) http://identifiers.org/clinvar/310435 ^@ NM_001131025.1(PEX5):c.1902G>A (p.Met634Ile) http://identifiers.org/clinvar/310690 ^@ NM_002108.3(HAL):c.*603A>G http://identifiers.org/clinvar/321953 ^@ NM_017775.3(TTC19):c.*297G>A http://identifiers.org/clinvar/321903 ^@ NM_006445.3(PRPF8):c.2493C>G (p.Ser831=) http://identifiers.org/clinvar/340578 ^@ NM_014339.6(IL17RA):c.676G>A (p.Glu226Lys) http://identifiers.org/clinvar/340828 ^@ NM_004782.3(SNAP29):c.-5G>A http://identifiers.org/clinvar/322303 ^@ NM_000430.3(PAFAH1B1):c.*2387C>G http://identifiers.org/clinvar/322353 ^@ NM_080669.5(SLC46A1):c.*3661T>C http://identifiers.org/clinvar/314728 ^@ NM_000153.3(GALC):c.*1458T>C http://identifiers.org/clinvar/322403 ^@ NM_080669.5(SLC46A1):c.*4G>T http://identifiers.org/clinvar/322453 ^@ NM_005148.3(UNC119):c.*287T>G http://identifiers.org/clinvar/314878 ^@ NM_006329.3(FBLN5):c.502+15G>C http://identifiers.org/clinvar/322603 ^@ NM_000267.3(NF1):c.*2829T>C http://identifiers.org/clinvar/322753 ^@ NM_145068.3(TRPV3):c.2321C>T (p.Thr774Ile) http://identifiers.org/clinvar/322803 ^@ NM_145068.3(TRPV3):c.-2-8T>C http://identifiers.org/clinvar/322953 ^@ NM_000458.3(HNF1B):c.-178G>A http://identifiers.org/clinvar/323053 ^@ NM_001254.3(CDC6):c.137_139delCTC (p.Pro46del) http://identifiers.org/clinvar/341867 ^@ NM_001429.3(EP300):c.*928A>C http://identifiers.org/clinvar/315578 ^@ NM_133647.1(SLC12A6):c.*2220A>G http://identifiers.org/clinvar/342067 ^@ NM_024105.3(ALG12):c.-159_-158delGT http://identifiers.org/clinvar/342167 ^@ NM_005198.4(CHKB):c.980C>T (p.Ser327Phe) http://identifiers.org/clinvar/367968 ^@ NM_001011658.3(TRAPPC2):c.*1739C>G http://identifiers.org/clinvar/316078 ^@ NM_025137.3(SPG11):c.6877C>T (p.Arg2293Trp) http://identifiers.org/clinvar/368118 ^@ NM_000132.3(F8):c.3885C>G (p.Asn1295Lys) http://identifiers.org/clinvar/368368 ^@ NM_153380.3(ZNF41):c.786G>A (p.Gln262=) http://identifiers.org/clinvar/368418 ^@ NM_007137.3(ZNF81):c.*1782C>T http://identifiers.org/clinvar/368468 ^@ NM_003179.2(SYP):c.54G>A (p.Gln18=) http://identifiers.org/clinvar/368568 ^@ NM_006306.3(SMC1A):c.*2609A>C http://identifiers.org/clinvar/368718 ^@ NM_153252.4(BRWD3):c.*1372T>A http://identifiers.org/clinvar/314678 ^@ NM_004863.3(SPTLC2):c.506G>C (p.Gly169Ala) http://identifiers.org/clinvar/368768 ^@ NM_024921.3(POF1B):c.*835C>T http://identifiers.org/clinvar/315328 ^@ NM_139057.3(ADAMTS17):c.-19delG http://identifiers.org/clinvar/317418 ^@ NM_018668.4(VPS33B):c.*125C>T http://identifiers.org/clinvar/315528 ^@ NM_002420.5(TRPM1):c.1267A>C (p.Thr423Pro) http://identifiers.org/clinvar/317518 ^@ NM_000875.4(IGF1R):c.*1897G>A http://identifiers.org/clinvar/315628 ^@ NM_133647.1(SLC12A6):c.-143G>A http://identifiers.org/clinvar/315128 ^@ NM_139057.3(ADAMTS17):c.*2722G>A http://identifiers.org/clinvar/315178 ^@ NM_139057.3(ADAMTS17):c.*1729G>A http://identifiers.org/clinvar/315678 ^@ NM_005159.4(ACTC1):c.*775C>A http://identifiers.org/clinvar/315728 ^@ NM_152594.2(SPRED1):c.-191C>T http://identifiers.org/clinvar/317768 ^@ NM_004862.3(LITAF):c.*686C>T http://identifiers.org/clinvar/317918 ^@ NM_001287.5(CLCN7):c.*1176C>T http://identifiers.org/clinvar/317968 ^@ NM_001287.5(CLCN7):c.95G>T (p.Gly32Val) http://identifiers.org/clinvar/372023 ^@ NM_058195.3(CDKN2A):c.69C>A (p.Phe23Leu) http://identifiers.org/clinvar/372073 ^@ NM_005591.3(MRE11):c.2070+14A>C http://identifiers.org/clinvar/371973 ^@ NM_007294.3(BRCA1):c.5074+23A>G http://identifiers.org/clinvar/372123 ^@ NM_003379.4(EZR):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/372197 ^@ NM_002936.4(RNASEH1):c.424G>A (p.Val142Ile) http://identifiers.org/clinvar/372255 ^@ NM_152416.3(NDUFAF6):c.805C>G (p.His269Asp) http://identifiers.org/clinvar/375772 ^@ NM_000527.4(LDLR):c.-99A>G http://identifiers.org/clinvar/375822 ^@ NM_000527.4(LDLR):c.1738T>C (p.Ser580Pro) http://identifiers.org/clinvar/375875 ^@ NM_002524.4(NRAS):c.181C>G (p.Gln61Glu) http://identifiers.org/clinvar/388308 ^@ NM_001256850.1(TTN):c.8770A>C (p.Ser2924Arg) http://identifiers.org/clinvar/393046 ^@ NM_201548.4(CERKL):c.157G>A (p.Glu53Lys) http://identifiers.org/clinvar/388908 ^@ NM_001135659.2(NRXN1):c.*1T>A http://identifiers.org/clinvar/379932 ^@ NM_000388.3(CASR):c.2657G>C (p.Arg886Pro) http://identifiers.org/clinvar/382025 ^@ NM_005787.5(ALG3):c.669C>T (p.Leu223=) http://identifiers.org/clinvar/388658 ^@ NM_182916.2(TRNT1):c.-47C>T http://identifiers.org/clinvar/386669 ^@ NM_000551.3(VHL):c.540C>T (p.Ile180=) http://identifiers.org/clinvar/387358 ^@ NM_183357.2(ADCY5):c.1384A>T (p.Ile462Phe) http://identifiers.org/clinvar/387458 ^@ NM_015560.2(OPA1):c.534A>G (p.Leu178=) http://identifiers.org/clinvar/389258 ^@ NM_000249.3(MLH1):c.2091C>T (p.Leu697=) http://identifiers.org/clinvar/382426 ^@ NM_015340.3(LARS2):c.1622+7C>T http://identifiers.org/clinvar/378284 ^@ NM_001135659.2(NRXN1):c.723C>G (p.Ala241=) http://identifiers.org/clinvar/386419 ^@ NM_000038.5(APC):c.-752C>T http://identifiers.org/clinvar/382877 ^@ NM_024582.4(FAT4):c.14129C>G (p.Ser4710Cys) http://identifiers.org/clinvar/381975 ^@ NM_003060.3(SLC22A5):c.1053-3C>T http://identifiers.org/clinvar/392407 ^@ NM_006846.3(SPINK5):c.2667-1G>A http://identifiers.org/clinvar/382326 ^@ NM_000038.5(APC):c.221-11A>G http://identifiers.org/clinvar/385619 ^@ NM_023073.3(C5orf42):c.3685G>C (p.Gly1229Arg) http://identifiers.org/clinvar/382476 ^@ NM_005787.5(ALG3):c.108G>A (p.Leu36=) http://identifiers.org/clinvar/383628 ^@ NM_017651.4(AHI1):c.3033A>G (p.Ser1011=) http://identifiers.org/clinvar/392457 ^@ NM_003242.5(TGFBR2):c.94+16273G>A http://identifiers.org/clinvar/382125 ^@ NM_024577.3(SH3TC2):c.2940C>T (p.Cys980=) http://identifiers.org/clinvar/381274 ^@ NM_002454.2(MTRR):c.1326C>T (p.Leu442=) http://identifiers.org/clinvar/393196 ^@ NM_032806.5(POMGNT2):c.77G>A (p.Arg26His) http://identifiers.org/clinvar/388758 ^@ NM_004168.3(SDHA):c.1089C>T (p.His363=) http://identifiers.org/clinvar/388208 ^@ NM_002290.4(LAMA4):c.141G>T (p.Pro47=) http://identifiers.org/clinvar/382927 ^@ NM_005045.3(RELN):c.330C>T (p.Phe110=) http://identifiers.org/clinvar/382977 ^@ NM_032340.3(UQCC2):c.123G>A (p.Glu41=) http://identifiers.org/clinvar/377482 ^@ NM_001148.4(ANK2):c.11694+19T>A http://identifiers.org/clinvar/385669 ^@ NM_001167734.1(VARS2):c.1164+15G>A http://identifiers.org/clinvar/387408 ^@ NM_001458.4(FLNC):c.5070C>T (p.Leu1690=) http://identifiers.org/clinvar/378389 ^@ NM_000535.6(PMS2):c.2006+12A>C http://identifiers.org/clinvar/388558 ^@ NM_000535.6(PMS2):c.1536C>T (p.Gly512=) http://identifiers.org/clinvar/382226 ^@ NM_138361.5(LRSAM1):c.1347+20C>T http://identifiers.org/clinvar/380282 ^@ NM_000535.6(PMS2):c.23+19C>T http://identifiers.org/clinvar/379431 ^@ NM_024790.6(CSPP1):c.30A>G (p.Val10=) http://identifiers.org/clinvar/383027 ^@ NM_020381.3(PDSS2):c.1042-19T>C http://identifiers.org/clinvar/388808 ^@ NM_000445.4(PLEC):c.810C>T (p.Val270=) http://identifiers.org/clinvar/380483 ^@ NM_006904.6(PRKDC):c.6480C>T (p.Tyr2160=) http://identifiers.org/clinvar/388158 ^@ NM_017866.5(TMEM70):c.690A>G (p.Glu230=) http://identifiers.org/clinvar/392257 ^@ NM_014908.3(DOLK):c.905C>T (p.Ala302Val) http://identifiers.org/clinvar/385369 ^@ NM_000368.4(TSC1):c.2311A>G (p.Met771Val) http://identifiers.org/clinvar/386619 ^@ NM_004415.3(DSP):c.183G>A (p.Thr61=) http://identifiers.org/clinvar/386469 ^@ NM_001130438.2(SPTAN1):c.134G>A (p.Arg45Gln) http://identifiers.org/clinvar/184154 ^@ NM_001042492.2(NF1):c.7584A>G (p.Gln2528=) http://identifiers.org/clinvar/185143 ^@ NM_002878.3(RAD51D):c.530A>T (p.Gln177Leu) http://identifiers.org/clinvar/184204 ^@ NM_007294.3(BRCA1):c.5100A>G (p.Thr1700=) http://identifiers.org/clinvar/183703 ^@ NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) http://identifiers.org/clinvar/185643 ^@ NM_032043.2(BRIP1):c.921A>G (p.Gly307=) http://identifiers.org/clinvar/183903 ^@ NM_000546.5(TP53):c.618G>A (p.Leu206=) http://identifiers.org/clinvar/185593 ^@ NM_000546.5(TP53):c.376-2dupA http://identifiers.org/clinvar/189099 ^@ NM_017739.3(POMGNT1):c.1011dupT (p.Asp338Terfs) http://identifiers.org/clinvar/188898 ^@ NM_000030.2(AGXT):c.752G>A (p.Trp251Ter) http://identifiers.org/clinvar/188998 ^@ NM_000441.1(SLC26A4):c.84C>A (p.Ser28Arg) http://identifiers.org/clinvar/188847 ^@ NM_005476.5(GNE):c.829C>T (p.Arg277Cys) http://identifiers.org/clinvar/189149 ^@ NM_000053.3(ATP7B):c.3895C>T (p.Leu1299Phe) http://identifiers.org/clinvar/189049 ^@ NM_000049.2(ASPA):c.32delT (p.Ile11Asnfs) http://identifiers.org/clinvar/188948 ^@ NM_000071.2(CBS):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/189199 ^@ NM_016035.4(COQ4):c.433C>G (p.Arg145Gly) http://identifiers.org/clinvar/189267 ^@ NM_014795.3(ZEB2):c.1172_1182delAAACAGAACCAinsTGACTTAAAATTAATG (p.Lys391Metfs) http://identifiers.org/clinvar/189319 ^@ NM_005859.4(PURA):c.697_699delTTC (p.Phe233del) http://identifiers.org/clinvar/189474 ^@ NM_000314.6(PTEN):c.202T>C (p.Tyr68His) http://identifiers.org/clinvar/189414 ^@ NM_000314.6(PTEN):c.599T>C (p.Phe200Ser) http://identifiers.org/clinvar/189739 ^@ NM_004992.3(MECP2):c.-98-?_377+?del http://identifiers.org/clinvar/189639 ^@ NM_004992.3(MECP2):c.(?_1044)_(1442_?)del (p.(?)) http://identifiers.org/clinvar/189539 ^@ NM_003159.2(CDKL5):c.-426C>G http://identifiers.org/clinvar/189589 ^@ NM_003159.2(CDKL5):c.404-1G>A http://identifiers.org/clinvar/189689 ^@ NM_004992.3:c.(?_27)_(1337_?)del http://identifiers.org/clinvar/189794 ^@ NM_183059.2(RD3):c.136G>T (p.Glu46Ter) http://identifiers.org/clinvar/189923 ^@ NM_001165963.1(SCN1A):c.4547C>G (p.Ser1516Trp) http://identifiers.org/clinvar/189873 ^@ NM_001165963.1(SCN1A):c.3615G>A (p.Trp1205Ter) http://identifiers.org/clinvar/189973 ^@ NM_001165963.1(SCN1A):c.1345G>T (p.Glu449Ter) http://identifiers.org/clinvar/190023 ^@ NM_001165963.1(SCN1A):c.70G>A (p.Ala24Thr) http://identifiers.org/clinvar/190208 ^@ NM_004628.4(XPC):c.2262delC (p.Asn754Lysfs) http://identifiers.org/clinvar/190158 ^@ NM_000124.3(ERCC6):c.2008C>T (p.Arg670Trp) http://identifiers.org/clinvar/190264 ^@ NM_001102654.1(NTF3):c.265G>A (p.Gly89Arg) http://identifiers.org/clinvar/190342 ^@ NM_002055.4(GFAP):c.375_380dupGCGGCT (p.Leu127_Asp128insArgLeu) http://identifiers.org/clinvar/242605 ^@ NM_001288953.1(TTC7A):c.1912T>C (p.Ser638Pro) http://identifiers.org/clinvar/190403 ^@ NM_000257.3(MYH7):c.5566G>A (p.Glu1856Lys) http://identifiers.org/clinvar/229254 ^@ NM_000441.1(SLC26A4):c.1678G>A (p.Asp560Asn) http://identifiers.org/clinvar/226582 ^@ NM_001277115.1(DNAH11):c.13547C>T (p.Ala4516Val) http://identifiers.org/clinvar/226632 ^@ NM_001114753.2(ENG):c.1932C>T (p.Ile644=) http://identifiers.org/clinvar/227664 ^@ NM_017433.4(MYO3A):c.288G>A (p.Leu96=) http://identifiers.org/clinvar/227714 ^@ NM_032578.3(MYPN):c.1460-14T>A http://identifiers.org/clinvar/229304 ^@ NM_005422.2(TECTA):c.487-7C>G http://identifiers.org/clinvar/226732 ^@ NM_002458.2(MUC5B):c.15104G>A (p.Arg5035His) http://identifiers.org/clinvar/229604 ^@ NM_153676.3(USH1C):c.241C>T (p.Arg81Cys) http://identifiers.org/clinvar/227764 ^@ NM_001277269.1(OTOG):c.1379-8C>T http://identifiers.org/clinvar/226882 ^@ NM_001277269.1(OTOG):c.3325-8C>G http://identifiers.org/clinvar/229104 ^@ NM_001277269.1(OTOG):c.7517-5_7518dupGCCAGTG http://identifiers.org/clinvar/227564 ^@ NM_000256.3(MYBPC3):c.1944C>T (p.His648=) http://identifiers.org/clinvar/226982 ^@ NM_012226.4(P2RX2):c.106-4G>T http://identifiers.org/clinvar/227814 ^@ NM_173591.3(OTOGL):c.2364-12T>C http://identifiers.org/clinvar/226932 ^@ NM_173591.3(OTOGL):c.2364-6G>A http://identifiers.org/clinvar/228904 ^@ NM_000257.3(MYH7):c.2537A>G (p.Glu846Gly) http://identifiers.org/clinvar/228604 ^@ NM_018139.2(DNAAF2):c.1595A>G (p.Glu532Gly) http://identifiers.org/clinvar/226682 ^@ NM_001130089.1(KARS):c.1868C>G (p.Thr623Ser) http://identifiers.org/clinvar/226782 ^@ NM_016239.3(MYO15A):c.3026C>A (p.Pro1009His) http://identifiers.org/clinvar/228954 ^@ NM_016239.3(MYO15A):c.4642G>A (p.Ala1548Thr) http://identifiers.org/clinvar/226832 ^@ NM_003803.3(MYOM1):c.644C>T (p.Thr215Met) http://identifiers.org/clinvar/227083 ^@ NM_001039876.2(SYNE4):c.*5T>C http://identifiers.org/clinvar/228754 ^@ NM_020433.4(JPH2):c.497T>G (p.Leu166Arg) http://identifiers.org/clinvar/226482 ^@ NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA (p.Ile278Thrfs) http://identifiers.org/clinvar/227614 ^@ NM_002473.5(MYH9):c.4971C>G (p.Thr1657=) http://identifiers.org/clinvar/229354 ^@ NM_001039141.2(TRIOBP):c.-3A>G http://identifiers.org/clinvar/227133 ^@ NM_144991.2(TSPEAR):c.1779G>A (p.Ser593=) http://identifiers.org/clinvar/227183 ^@ NM_001692.3(ATP6V1B1):c.591C>T (p.Ala197=) http://identifiers.org/clinvar/229004 ^@ NM_000260.3(MYO7A):c.2798G>A (p.Arg933His) http://identifiers.org/clinvar/232095 ^@ NM_000249.3(MLH1):c.1261A>G (p.Ser421Gly) http://identifiers.org/clinvar/231895 ^@ NM_001128425.1(MUTYH):c.972G>C (p.Ser324=) http://identifiers.org/clinvar/232195 ^@ NM_000465.3(BARD1):c.2209A>G (p.Ile737Val) http://identifiers.org/clinvar/231645 ^@ NM_000465.3(BARD1):c.726C>G (p.Phe242Leu) http://identifiers.org/clinvar/231295 ^@ NM_000251.2(MSH2):c.-68-187C>A http://identifiers.org/clinvar/231095 ^@ NM_000251.2(MSH2):c.89C>G (p.Pro30Arg) http://identifiers.org/clinvar/232596 ^@ NM_000251.2(MSH2):c.1062C>T (p.Asn354=) http://identifiers.org/clinvar/231495 ^@ NM_000179.2(MSH6):c.1184C>A (p.Thr395Lys) http://identifiers.org/clinvar/231845 ^@ NM_000038.5(APC):c.735A>G (p.Ser245=) http://identifiers.org/clinvar/231945 ^@ NM_000038.5(APC):c.1654_1658delTCTTG (p.Ser552Alafs) http://identifiers.org/clinvar/232045 ^@ NM_000038.5(APC):c.1873C>T (p.Gln625Ter) http://identifiers.org/clinvar/263428 ^@ NM_005902.3(SMAD3):c.269G>A (p.Arg90His) http://identifiers.org/clinvar/263731 ^@ NM_002230.2(JUP):c.467C>T (p.Pro156Leu) http://identifiers.org/clinvar/263326 ^@ NM_000071.2(CBS):c.1472G>A (p.Arg491His) http://identifiers.org/clinvar/264637 ^@ NM_176787.4(PIGN):c.548_549+6del http://identifiers.org/clinvar/264701 ^@ NM_145331.2(MAP3K7):c.502G>C (p.Gly168Arg) http://identifiers.org/clinvar/264752 ^@ NM_001242896.1(DEPDC5):c.814G>T (p.Val272Leu) http://identifiers.org/clinvar/264957 ^@ NM_000059.3(BRCA2):c.7007+3405dup http://identifiers.org/clinvar/264907 ^@ NM_000059.3(BRCA2):c.9257-5114T>C http://identifiers.org/clinvar/264857 ^@ NM_007294.3(BRCA1):c.5194-2337_5194-2335dup http://identifiers.org/clinvar/264807 ^@ NM_007294.3(BRCA1):c.4185+3334G>A http://identifiers.org/clinvar/267695 ^@ NM_000059.3(BRCA2):c.8332-?_8632+?dup http://identifiers.org/clinvar/267645 ^@ NG_012772.3:g.28415_28416ins4 http://identifiers.org/clinvar/267595 ^@ NM_007294.3(BRCA1):c.5311_5332+1del http://identifiers.org/clinvar/267495 ^@ NM_007294.3(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (p.Ser1428_Arg1762delinsTer) http://identifiers.org/clinvar/267545 ^@ NM_007294.3(BRCA1):c.442-7T>A http://identifiers.org/clinvar/267774 ^@ NM_006087.3(TUBB4A):c.533C>T (p.T178M) http://identifiers.org/clinvar/267824 ^@ 46;XX;t(5;13)(q15;q32)dn http://identifiers.org/clinvar/267875 ^@ 46;XX;t(10;14)(p13;q21)dn http://identifiers.org/clinvar/267925 ^@ 46;XX;t(1:2)(q42.3;q24.2)dn http://identifiers.org/clinvar/267975 ^@ 46;XY;t(6;13)(q15;q22.3) http://identifiers.org/clinvar/268025 ^@ 46;XX;t(6;21)(q14;q21)dn http://identifiers.org/clinvar/268085 ^@ NM_001177676.1(GPR68):c.667_668delAA (p.Lys223Glyfs) http://identifiers.org/clinvar/268142 ^@ NM_005506.3(SCARB2):c.1016dupT (p.His341Thrfs) http://identifiers.org/clinvar/268213 ^@ NM_000113.2(TOR1A):c.361G>A (p.Glu121Lys) http://identifiers.org/clinvar/291636 ^@ NM_015074.3(KIF1B):c.*2978dupG http://identifiers.org/clinvar/292036 ^@ NM_138959.2(VANGL1):c.*1456T>C http://identifiers.org/clinvar/292086 ^@ NM_138959.2(VANGL1):c.*5267G>T http://identifiers.org/clinvar/293075 ^@ NM_002241.4(KCNJ10):c.*3104T>A http://identifiers.org/clinvar/293175 ^@ NM_000702.3(ATP1A2):c.*1496delA http://identifiers.org/clinvar/293225 ^@ NM_002857.3(PEX19):c.*77delA http://identifiers.org/clinvar/292925 ^@ NM_003126.2(SPTA1):c.*133C>T http://identifiers.org/clinvar/293425 ^@ NM_004431.4(EPHA2):c.1712C>T (p.Pro571Leu) http://identifiers.org/clinvar/293525 ^@ NM_006996.2(SLC19A2):c.796G>A (p.Val266Met) http://identifiers.org/clinvar/293275 ^@ NM_004550.4(NDUFS2):c.515-3C>A http://identifiers.org/clinvar/293325 ^@ NM_003001.3(SDHC):c.*385G>A http://identifiers.org/clinvar/293475 ^@ NM_005149.2(TBX19):c.728-7A>G http://identifiers.org/clinvar/293575 ^@ NM_000130.4(F5):c.6309G>A (p.Leu2103=) http://identifiers.org/clinvar/293625 ^@ NM_000130.4(F5):c.1659G>A (p.Glu553=) http://identifiers.org/clinvar/292975 ^@ NM_003126.2(SPTA1):c.5304C>T (p.Ala1768=) http://identifiers.org/clinvar/293925 ^@ NM_002065.6(GLUL):c.*919A>G http://identifiers.org/clinvar/293725 ^@ NM_000639.2(FASLG):c.-136G>A http://identifiers.org/clinvar/293875 ^@ NM_033343.3(LHX4):c.*91C>T http://identifiers.org/clinvar/293025 ^@ NM_003126.2(SPTA1):c.1834-12_1834-10delATC http://identifiers.org/clinvar/293125 ^@ NM_000702.3(ATP1A2):c.285C>T (p.Phe95=) http://identifiers.org/clinvar/294175 ^@ NM_031935.2(HMCN1):c.6708A>G (p.Pro2236=) http://identifiers.org/clinvar/293375 ^@ NM_006182.2(DDR2):c.778C>T (p.Arg260Trp) http://identifiers.org/clinvar/293775 ^@ NM_022089.3(ATP13A2):c.2619G>C (p.Val873=) http://identifiers.org/clinvar/293675 ^@ NM_152281.2(GORAB):c.*944A>G http://identifiers.org/clinvar/293825 ^@ NM_018122.4(DARS2):c.1558A>C (p.Lys520Gln) http://identifiers.org/clinvar/294914 ^@ NM_003465.2(CHIT1):c.1265G>A (p.Gly422Asp) http://identifiers.org/clinvar/295014 ^@ NM_032409.2(PINK1):c.*196T>C http://identifiers.org/clinvar/293975 ^@ NM_005562.2(LAMC2):c.-260C>A http://identifiers.org/clinvar/336270 ^@ NM_001430.4(EPAS1):c.2010T>C (p.Pro670=) http://identifiers.org/clinvar/344306 ^@ NM_020166.4(MCCC1):c.1499G>A (p.Arg500Gln) http://identifiers.org/clinvar/336370 ^@ NM_139279.5(MCFD2):c.*557G>A http://identifiers.org/clinvar/343656 ^@ NM_000935.2(PLOD2):c.-170C>G http://identifiers.org/clinvar/336120 ^@ NM_133259.3(LRPPRC):c.*1498G>A http://identifiers.org/clinvar/336170 ^@ NM_133259.3(LRPPRC):c.843C>T (p.Gly281=) http://identifiers.org/clinvar/344756 ^@ NM_015141.3(GPD1L):c.*1302G>C http://identifiers.org/clinvar/344806 ^@ NM_006371.4(CRTAP):c.282C>T (p.Pro94=) http://identifiers.org/clinvar/344156 ^@ NM_000340.1(SLC2A2):c.*94delT http://identifiers.org/clinvar/344206 ^@ NM_031955.5(SPATA16):c.1401G>T (p.Gln467His) http://identifiers.org/clinvar/345356 ^@ NM_020208.3(SLC6A20):c.*2479A>G http://identifiers.org/clinvar/344506 ^@ NM_015560.2(OPA1):c.*2092C>T http://identifiers.org/clinvar/344556 ^@ NM_000461.4(THRB):c.*4477delA http://identifiers.org/clinvar/344606 ^@ NM_000461.4(THRB):c.*1776dupT http://identifiers.org/clinvar/344656 ^@ NM_003242.5(TGFBR2):c.472C>T (p.Pro158Ser) http://identifiers.org/clinvar/344706 ^@ NM_003242.5(TGFBR2):c.*1860C>A http://identifiers.org/clinvar/344856 ^@ NM_006371.4(CRTAP):c.*2943A>G http://identifiers.org/clinvar/344906 ^@ NM_000249.3(MLH1):c.546-5delT http://identifiers.org/clinvar/345106 ^@ NM_198056.2(SCN5A):c.*160G>A http://identifiers.org/clinvar/345206 ^@ NM_016006.4(ABHD5):c.-98C>A http://identifiers.org/clinvar/346295 ^@ NM_001457.3(FLNB):c.-76C>A http://identifiers.org/clinvar/346445 ^@ NM_198859.3(PRICKLE2):c.*2207C>T http://identifiers.org/clinvar/342367 ^@ NM_033084.4(FANCD2):c.2469A>G (p.Gln823=) http://identifiers.org/clinvar/342317 ^@ NM_016247.3(IMPG2):c.*551dupT http://identifiers.org/clinvar/345456 ^@ NM_024513.3(FYCO1):c.*2694delT http://identifiers.org/clinvar/346595 ^@ NM_032682.5(FOXP1):c.*2067A>G http://identifiers.org/clinvar/346645 ^@ NM_032682.5(FOXP1):c.1233C>T (p.Thr411=) http://identifiers.org/clinvar/346695 ^@ NM_002942.4(ROBO2):c.2007A>C (p.Arg669=) http://identifiers.org/clinvar/345606 ^@ NM_002222.5(ITPR1):c.1080G>C (p.Leu360=) http://identifiers.org/clinvar/346745 ^@ NM_002942.4(ROBO2):c.*1959G>C http://identifiers.org/clinvar/346845 ^@ NM_000306.3(POU1F1):c.337C>T (p.Arg113Trp) http://identifiers.org/clinvar/342567 ^@ NM_198196.2(CD96):c.*910A>T http://identifiers.org/clinvar/342467 ^@ NM_000551.3(VHL):c.*2419dupA http://identifiers.org/clinvar/346995 ^@ NM_000097.5(CPOX):c.86A>C (p.Gln29Pro) http://identifiers.org/clinvar/342617 ^@ NM_020754.3(ARHGAP31):c.-295A>G http://identifiers.org/clinvar/347095 ^@ NM_005908.3(MANBA):c.831A>G (p.Leu277=) http://identifiers.org/clinvar/342717 ^@ NM_020754.3(ARHGAP31):c.*2355A>G http://identifiers.org/clinvar/347345 ^@ NM_001148.4(ANK2):c.11027G>C (p.Ser3676Thr) http://identifiers.org/clinvar/346145 ^@ NM_052859.3(RFT1):c.*2789C>T http://identifiers.org/clinvar/342817 ^@ NM_000388.3(CASR):c.*1169C>T http://identifiers.org/clinvar/346245 ^@ NM_003392.4(WNT5A):c.*1657T>G http://identifiers.org/clinvar/346395 ^@ NM_000925.3(PDHB):c.*366_*367insAA http://identifiers.org/clinvar/348045 ^@ NM_001166108.1(PALLD):c.3145C>T (p.Arg1049Cys) http://identifiers.org/clinvar/346895 ^@ NM_000313.3(PROS1):c.-43G>A http://identifiers.org/clinvar/358212 ^@ NM_183050.3(BCKDHB):c.*2271G>A http://identifiers.org/clinvar/358312 ^@ NM_000602.4(SERPINE1):c.649G>A (p.Gly217Ser) http://identifiers.org/clinvar/358462 ^@ NM_006348.3(COG5):c.1350A>G (p.Leu450=) http://identifiers.org/clinvar/354522 ^@ NM_002890.2(RASA1):c.2049G>C (p.Gly683=) http://identifiers.org/clinvar/354722 ^@ NM_001491.2(GCNT2):c.*939G>T http://identifiers.org/clinvar/362960 ^@ NM_000037.3(ANK1):c.*1667T>A http://identifiers.org/clinvar/354672 ^@ NM_005068.2(SIM1):c.*113A>T http://identifiers.org/clinvar/363110 ^@ NM_018105.2(THAP1):c.*999G>A http://identifiers.org/clinvar/359351 ^@ NM_016203.3(PRKAG2):c.138G>A (p.Pro46=) http://identifiers.org/clinvar/363260 ^@ NM_003068.4(SNAI2):c.*334T>G http://identifiers.org/clinvar/359401 ^@ NM_022458.3(LMBR1):c.*1359G>A http://identifiers.org/clinvar/359451 ^@ NM_058246.3(DNAJB6):c.188A>G (p.Asp63Gly) http://identifiers.org/clinvar/363310 ^@ NM_006269.1(RP1):c.6056G>A (p.Gly2019Asp) http://identifiers.org/clinvar/354972 ^@ NM_014028.3(OSTM1):c.*873A>G http://identifiers.org/clinvar/354872 ^@ NM_001242957.2(MAK):c.119A>G (p.Tyr40Cys) http://identifiers.org/clinvar/363360 ^@ NM_017813.4(IMPAD1):c.*2607C>T http://identifiers.org/clinvar/359551 ^@ NM_001101426.3(ISPD):c.*2106C>T http://identifiers.org/clinvar/359601 ^@ NM_001277115.1(DNAH11):c.891A>G (p.Ala297=) http://identifiers.org/clinvar/355022 ^@ NM_004752.3(GCM2):c.90+12G>C http://identifiers.org/clinvar/363510 ^@ NM_017780.3(CHD7):c.*1698T>G http://identifiers.org/clinvar/355072 ^@ NM_000493.3(COL10A1):c.*790T>G http://identifiers.org/clinvar/359701 ^@ NM_001277115.1(DNAH11):c.*79C>T http://identifiers.org/clinvar/355123 ^@ NM_001010892.2(RSPH4A):c.1843C>G (p.Leu615Val) http://identifiers.org/clinvar/355323 ^@ NM_000045.3(ARG1):c.*310A>G http://identifiers.org/clinvar/363660 ^@ NM_000503.5(EYA1):c.556+5G>C http://identifiers.org/clinvar/355173 ^@ NM_000165.4(GJA1):c.*538G>A http://identifiers.org/clinvar/355423 ^@ NM_006208.2(ENPP1):c.*3706G>A http://identifiers.org/clinvar/363760 ^@ NM_018972.2(GDAP1):c.*2408G>A http://identifiers.org/clinvar/355273 ^@ NM_000426.3(LAMA2):c.4959+6G>T http://identifiers.org/clinvar/355523 ^@ NM_000288.3(PEX7):c.-35G>A http://identifiers.org/clinvar/355373 ^@ NM_006208.2(ENPP1):c.*777C>T http://identifiers.org/clinvar/355623 ^@ NM_003764.3(STX11):c.*1463C>T http://identifiers.org/clinvar/360051 ^@ NM_198428.2(BBS9):c.-407C>G http://identifiers.org/clinvar/360201 ^@ NM_000168.5(GLI3):c.*911A>G http://identifiers.org/clinvar/360301 ^@ NM_000162.3(GCK):c.363+10G>A http://identifiers.org/clinvar/360351 ^@ NM_014855.2(AP5Z1):c.*250T>G http://identifiers.org/clinvar/364899 ^@ NM_002316.3(LMX1B):c.*232C>T http://identifiers.org/clinvar/364999 ^@ NM_002316.3(LMX1B):c.*4477C>T http://identifiers.org/clinvar/365049 ^@ NM_003165.3(STXBP1):c.255C>T (p.His85=) http://identifiers.org/clinvar/365149 ^@ NM_001130438.2(SPTAN1):c.-77A>G http://identifiers.org/clinvar/356612 ^@ NM_005943.5(MOCS1):c.*1835A>C http://identifiers.org/clinvar/356412 ^@ NM_080680.2(COL11A2):c.5A>G (p.Glu2Gly) http://identifiers.org/clinvar/356662 ^@ NM_005943.5(MOCS1):c.583+6C>T http://identifiers.org/clinvar/365549 ^@ NM_139025.4(ADAMTS13):c.1787-6C>T http://identifiers.org/clinvar/365649 ^@ NM_000787.3(DBH):c.852C>T (p.Asp284=) http://identifiers.org/clinvar/356812 ^@ NM_014780.4(CUL7):c.*71A>G http://identifiers.org/clinvar/365749 ^@ NM_000093.4(COL5A1):c.*302C>G http://identifiers.org/clinvar/365799 ^@ NM_014564.4(LHX3):c.*825C>A http://identifiers.org/clinvar/365849 ^@ NM_052813.4(CARD9):c.627+4C>T http://identifiers.org/clinvar/357012 ^@ NM_006502.2(POLH):c.*5630G>A http://identifiers.org/clinvar/365900 ^@ NM_006412.3(AGPAT2):c.*535C>T http://identifiers.org/clinvar/356862 ^@ NM_014780.4(CUL7):c.-269A>G http://identifiers.org/clinvar/357212 ^@ NM_012120.2(CD2AP):c.*652A>G http://identifiers.org/clinvar/303491 ^@ NM_016952.4(CDON):c.3588C>T (p.Asp1196=) http://identifiers.org/clinvar/366989 ^@ NM_001042413.1(GLIS3):c.893C>A (p.Ser298Tyr) http://identifiers.org/clinvar/303741 ^@ NM_000525.3(KCNJ11):c.-179C>T http://identifiers.org/clinvar/367189 ^@ NM_000170.2(GLDC):c.1580+5G>T http://identifiers.org/clinvar/364110 ^@ NM_004612.3(TGFBR1):c.*756C>A http://identifiers.org/clinvar/303991 ^@ NM_004211.4(SLC6A5):c.-33C>T http://identifiers.org/clinvar/312129 ^@ NM_020751.2(COG6):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/304141 ^@ NM_213599.2(ANO5):c.*1757A>C http://identifiers.org/clinvar/312329 ^@ NM_024570.3(RNASEH2B):c.127C>T (p.Pro43Ser) http://identifiers.org/clinvar/304191 ^@ NM_022725.3(FANCF):c.*624G>C http://identifiers.org/clinvar/304241 ^@ NM_000218.2(KCNQ1):c.*305A>C http://identifiers.org/clinvar/312429 ^@ NM_006493.2(CLN5):c.*33A>G http://identifiers.org/clinvar/367618 ^@ NM_000264.3(PTCH1):c.*3232G>T http://identifiers.org/clinvar/304291 ^@ NM_000280.4(PAX6):c.*4696G>C http://identifiers.org/clinvar/367668 ^@ NM_000264.3(PTCH1):c.1847+14C>T http://identifiers.org/clinvar/304391 ^@ NM_024426.4(WT1):c.*785C>A http://identifiers.org/clinvar/298503 ^@ NM_021830.4(TWNK):c.1527C>T (p.Asp509=) http://identifiers.org/clinvar/298703 ^@ NM_000494.3(COL17A1):c.2771G>A (p.Gly924Asp) http://identifiers.org/clinvar/298753 ^@ NM_000494.3(COL17A1):c.324G>A (p.Ala108=) http://identifiers.org/clinvar/298853 ^@ NM_001134363.2(RBM20):c.*2951T>C http://identifiers.org/clinvar/305632 ^@ NM_000920.3(PC):c.715A>G (p.Ile239Val) http://identifiers.org/clinvar/305682 ^@ NM_145200.3(CABP4):c.*1813dupA http://identifiers.org/clinvar/305732 ^@ NM_003977.3(AIP):c.891C>A (p.Ala297=) http://identifiers.org/clinvar/314778 ^@ NM_018418.4(SPATA7):c.284A>G (p.Gln95Arg) http://identifiers.org/clinvar/305782 ^@ NM_006019.3(TCIRG1):c.166C>T (p.Arg56Trp) http://identifiers.org/clinvar/314978 ^@ NM_004239.4(TRIP11):c.202-7T>A http://identifiers.org/clinvar/315028 ^@ NM_001127701.1(SERPINA1):c.227_229delTCT (p.Phe76del) http://identifiers.org/clinvar/315078 ^@ NM_177438.2(DICER1):c.*1448dupT http://identifiers.org/clinvar/299792 ^@ NM_032844.4(MASTL):c.1355C>A (p.Ser452Tyr) http://identifiers.org/clinvar/315278 ^@ NM_139057.3(ADAMTS17):c.1923G>A (p.Gly641=) http://identifiers.org/clinvar/315378 ^@ NM_144599.4(NIPA1):c.*2425A>G http://identifiers.org/clinvar/299892 ^@ NM_020975.4(RET):c.1420C>T (p.Arg474Trp) http://identifiers.org/clinvar/315478 ^@ NM_000275.2(OCA2):c.48G>A (p.Ala16=) http://identifiers.org/clinvar/306446 ^@ NM_000372.4(TYR):c.*230G>A http://identifiers.org/clinvar/315778 ^@ NM_152594.2(SPRED1):c.*4139_*4141delATT http://identifiers.org/clinvar/329151 ^@ NM_033064.4(ATCAY):c.810C>T (p.Ile270=) http://identifiers.org/clinvar/309685 ^@ NM_002272.3(KRT4):c.678-3C>T http://identifiers.org/clinvar/315228 ^@ NM_139057.3(ADAMTS17):c.*464C>T http://identifiers.org/clinvar/318170 ^@ NM_002474.2(MYH11):c.1848C>T (p.Ala616=) http://identifiers.org/clinvar/310135 ^@ NM_001038.5(SCNN1A):c.1554-6C>T http://identifiers.org/clinvar/310185 ^@ NM_002076.3(GNS):c.*1228C>T http://identifiers.org/clinvar/311679 ^@ NM_004795.3(KL):c.191G>A (p.Gly64Asp) http://identifiers.org/clinvar/310235 ^@ NM_014319.4(LEMD3):c.1627+12_1627+14delAAC http://identifiers.org/clinvar/318370 ^@ NM_001039.3(SCNN1G):c.*606T>A http://identifiers.org/clinvar/311879 ^@ NM_001127217.2(SMAD9):c.*590T>A http://identifiers.org/clinvar/318670 ^@ NM_020705.2(TBC1D24):c.*2834_*2835insA http://identifiers.org/clinvar/311929 ^@ NM_207361.5(FREM2):c.-244G>T http://identifiers.org/clinvar/330490 ^@ NM_020533.2(MCOLN1):c.490G>A (p.Ala164Thr) http://identifiers.org/clinvar/312079 ^@ NM_207361.5(FREM2):c.*3405A>G http://identifiers.org/clinvar/330540 ^@ NM_006702.4(PNPLA6):c.*8G>A http://identifiers.org/clinvar/312179 ^@ NM_014252.3(SLC25A15):c.345C>T (p.Phe115=) http://identifiers.org/clinvar/310790 ^@ NM_005888.3(SLC25A3):c.-120G>C http://identifiers.org/clinvar/310840 ^@ NM_000282.3(PCCA):c.-20G>A http://identifiers.org/clinvar/312379 ^@ NM_000053.3(ATP7B):c.3688A>G (p.Ile1230Val) http://identifiers.org/clinvar/319459 ^@ NM_022162.2(NOD2):c.2123G>A (p.Arg708His) http://identifiers.org/clinvar/319510 ^@ NM_015247.2(CYLD):c.*47G>A http://identifiers.org/clinvar/338827 ^@ NM_000782.4(CYP24A1):c.695G>A (p.Gly232Glu) http://identifiers.org/clinvar/338877 ^@ NM_002591.3(PCK1):c.489A>G (p.Ser163=) http://identifiers.org/clinvar/311729 ^@ NM_004795.3(KL):c.*1603C>A http://identifiers.org/clinvar/320460 ^@ NM_001361.4(DHODH):c.*1088T>C http://identifiers.org/clinvar/311779 ^@ NM_000538.3(RFXAP):c.-116C>G http://identifiers.org/clinvar/339127 ^@ NM_207034.2(EDN3):c.689G>A (p.Arg230His) http://identifiers.org/clinvar/311829 ^@ NM_001127217.2(SMAD9):c.*3263T>G http://identifiers.org/clinvar/320710 ^@ NM_022041.3(GAN):c.*2332delT http://identifiers.org/clinvar/312029 ^@ NM_207361.5(FREM2):c.8337C>T (p.Ser2779=) http://identifiers.org/clinvar/320910 ^@ NM_001127464.2(ZNF469):c.3481C>A (p.Pro1161Thr) http://identifiers.org/clinvar/339577 ^@ NM_000933.3(PLCB4):c.2364G>A (p.Pro788=) http://identifiers.org/clinvar/339627 ^@ NM_000484.3(APP):c.2212-10T>C http://identifiers.org/clinvar/321060 ^@ NM_001127464.2(ZNF469):c.*879T>C http://identifiers.org/clinvar/339677 ^@ NM_178817.3(MRAP):c.132G>T (p.Val44=) http://identifiers.org/clinvar/321260 ^@ NM_000303.2(PMM2):c.*1086G>A http://identifiers.org/clinvar/340127 ^@ NM_000211.4(ITGB2):c.*349delA http://identifiers.org/clinvar/328301 ^@ NM_006397.2(RNASEH2A):c.*68C>T http://identifiers.org/clinvar/328351 ^@ NM_000156.5(GAMT):c.140C>T (p.Thr47Ile) http://identifiers.org/clinvar/367718 ^@ NM_002578.4(PAK3):c.1518G>A (p.Arg506=) http://identifiers.org/clinvar/326762 ^@ NM_015559.2(SETBP1):c.4234C>A (p.Arg1412=) http://identifiers.org/clinvar/326812 ^@ NM_015559.2(SETBP1):c.*4100G>A http://identifiers.org/clinvar/328551 ^@ NM_000453.2(SLC5A5):c.*239C>G http://identifiers.org/clinvar/367818 ^@ NM_001167.3(XIAP):c.*3001T>A http://identifiers.org/clinvar/326912 ^@ NM_017653.3(DYM):c.-169G>A http://identifiers.org/clinvar/328701 ^@ NM_001031726.3(C19orf12):c.*1219C>T http://identifiers.org/clinvar/327062 ^@ NM_001080467.2(MYO5B):c.1950G>A (p.Thr650=) http://identifiers.org/clinvar/328751 ^@ NM_014270.4(SLC7A9):c.827C>T (p.Thr276Ile) http://identifiers.org/clinvar/368068 ^@ NM_000033.3(ABCD1):c.*903G>A http://identifiers.org/clinvar/327112 ^@ NM_005359.5(SMAD4):c.*30A>C http://identifiers.org/clinvar/327212 ^@ NM_005359.5(SMAD4):c.*6009G>C http://identifiers.org/clinvar/368218 ^@ NM_004006.2(DMD):c.*1161_*1164dupAACT http://identifiers.org/clinvar/329101 ^@ NM_000540.2(RYR1):c.10803C>A (p.Ala3601=) http://identifiers.org/clinvar/368668 ^@ NM_001109878.1(TBX22):c.883T>C (p.Leu295=) http://identifiers.org/clinvar/327801 ^@ NM_005786.5(TSHZ1):c.348C>G (p.Pro116=) http://identifiers.org/clinvar/328001 ^@ NM_001005360.2(DNM2):c.*82C>T http://identifiers.org/clinvar/328101 ^@ NM_000527.4(LDLR):c.*1430C>T http://identifiers.org/clinvar/328201 ^@ NM_002743.3(PRKCSH):c.*185T>C http://identifiers.org/clinvar/328401 ^@ NM_000435.2(NOTCH3):c.2792+6C>T http://identifiers.org/clinvar/328501 ^@ NM_000215.3(JAK3):c.2680+15G>A http://identifiers.org/clinvar/328601 ^@ NM_005535.2(IL12RB1):c.309T>C (p.Ala103=) http://identifiers.org/clinvar/328651 ^@ NM_003721.3(RFXANK):c.*12C>T http://identifiers.org/clinvar/328801 ^@ NM_000285.3(PEPD):c.1094C>T (p.Pro365Leu) http://identifiers.org/clinvar/329001 ^@ NM_000540.2(RYR1):c.2835G>A (p.Ala945=) http://identifiers.org/clinvar/338927 ^@ NM_004738.4(VAPB):c.-33C>G http://identifiers.org/clinvar/339077 ^@ NM_001001433.2(STX16):c.*1652G>A http://identifiers.org/clinvar/339177 ^@ NM_017671.4(FERMT1):c.*2016T>A http://identifiers.org/clinvar/339427 ^@ NM_025219.2(DNAJC5):c.*3413A>G http://identifiers.org/clinvar/330590 ^@ NM_030957.3(ADAMTS10):c.2220C>T (p.Asn740=) http://identifiers.org/clinvar/339927 ^@ NM_000411.6(HLCS):c.*2163A>G http://identifiers.org/clinvar/340177 ^@ NM_000211.4(ITGB2):c.228C>T (p.Asp76=) http://identifiers.org/clinvar/340277 ^@ NM_130445.3(COL18A1):c.*133T>C http://identifiers.org/clinvar/340778 ^@ NM_017929.5(PEX26):c.*954T>C http://identifiers.org/clinvar/339027 ^@ NM_004738.4(VAPB):c.*6746C>T http://identifiers.org/clinvar/339277 ^@ NM_001853.3(COL9A3):c.665C>T (p.Pro222Leu) http://identifiers.org/clinvar/339327 ^@ NM_172107.3(KCNQ2):c.*110G>A http://identifiers.org/clinvar/339527 ^@ NM_015192.3(PLCB1):c.*785A>T http://identifiers.org/clinvar/341517 ^@ NM_002473.5(MYH9):c.3136C>G (p.Leu1046Val) http://identifiers.org/clinvar/341567 ^@ NM_013416.3(NCF4):c.*390A>C http://identifiers.org/clinvar/339777 ^@ NM_000219.5(KCNE1):c.-101A>T http://identifiers.org/clinvar/341767 ^@ NM_001429.3(EP300):c.-212C>T http://identifiers.org/clinvar/339827 ^@ NM_001754.4(RUNX1):c.*2549_*2550dupTG http://identifiers.org/clinvar/339977 ^@ NM_000411.6(HLCS):c.-257-10T>A http://identifiers.org/clinvar/392207 ^@ NM_006258.3(PRKG1):c.1001+12G>A http://identifiers.org/clinvar/380533 ^@ NM_001080449.2(DNA2):c.1362G>A (p.Ser454=) http://identifiers.org/clinvar/383077 ^@ NM_032634.3(PIGO):c.2562C>T (p.Arg854=) http://identifiers.org/clinvar/385919 ^@ NM_014141.5(CNTNAP2):c.3248-10T>C http://identifiers.org/clinvar/378439 ^@ NM_000314.6(PTEN):c.444A>C (p.Ala148=) http://identifiers.org/clinvar/379481 ^@ NM_058246.3(DNAJB6):c.815C>T (p.Ala272Val) http://identifiers.org/clinvar/385319 ^@ NM_000051.3(ATM):c.4018T>C (p.Leu1340=) http://identifiers.org/clinvar/389208 ^@ NM_007327.3(GRIN1):c.1497T>C (p.Asn499=) http://identifiers.org/clinvar/379882 ^@ NM_000077.4(CDKN2A):c.-34G>A http://identifiers.org/clinvar/379681 ^@ NM_003477.2(PDHX):c.160+12G>C http://identifiers.org/clinvar/383728 ^@ NM_152264.4(SLC39A13):c.1016C>T (p.Pro339Leu) http://identifiers.org/clinvar/381925 ^@ NM_000051.3(ATM):c.-18G>C http://identifiers.org/clinvar/380433 ^@ NM_006231.3(POLE):c.5173+18C>T http://identifiers.org/clinvar/392107 ^@ NM_001931.4(DLAT):c.870C>T (p.Leu290=) http://identifiers.org/clinvar/382827 ^@ NM_006231.3(POLE):c.834G>A (p.Thr278=) http://identifiers.org/clinvar/379281 ^@ NM_000051.3(ATM):c.8085T>G (p.Gly2695=) http://identifiers.org/clinvar/382627 ^@ NM_001130438.2(SPTAN1):c.3891G>A (p.Glu1297=) http://identifiers.org/clinvar/381825 ^@ NM_012062.4(DNM1L):c.666G>C (p.Ala222=) http://identifiers.org/clinvar/385469 ^@ NM_000391.3(TPP1):c.207G>A (p.Ser69=) http://identifiers.org/clinvar/381424 ^@ NM_005566.3(LDHA):c.608G>C (p.Gly203Ala) http://identifiers.org/clinvar/378334 ^@ NM_000920.3(PC):c.2304G>C (p.Leu768=) http://identifiers.org/clinvar/380232 ^@ NM_006231.3(POLE):c.1695C>T (p.Ala565=) http://identifiers.org/clinvar/385769 ^@ NM_000059.3(BRCA2):c.9649-5A>G http://identifiers.org/clinvar/385569 ^@ NM_015346.3(ZFYVE26):c.1933A>G (p.Met645Val) http://identifiers.org/clinvar/389158 ^@ NM_003276.2(TMPO):c.249C>T (p.Ala83=) http://identifiers.org/clinvar/388008 ^@ NM_000814.5(GABRB3):c.675C>T (p.Phe225=) http://identifiers.org/clinvar/377582 ^@ NM_000059.3(BRCA2):c.5454A>G (p.Ser1818=) http://identifiers.org/clinvar/385819 ^@ NM_001845.5(COL4A1):c.2811C>T (p.Ser937=) http://identifiers.org/clinvar/385419 ^@ NM_000051.3(ATM):c.4109+4T>C http://identifiers.org/clinvar/388408 ^@ NM_182476.2(COQ6):c.1299C>G (p.Leu433=) http://identifiers.org/clinvar/385969 ^@ NM_001376.4(DYNC1H1):c.1173A>G (p.Gln391=) http://identifiers.org/clinvar/384079 ^@ NM_173201.3(ATP2A1):c.1706C>T (p.Thr569Ile) http://identifiers.org/clinvar/377832 ^@ NM_000126.3(ETFA):c.186+16G>T http://identifiers.org/clinvar/380332 ^@ NM_021625.4(TRPV4):c.1585-18C>T http://identifiers.org/clinvar/377532 ^@ NM_170665.3(ATP2A2):c.220-18G>A http://identifiers.org/clinvar/381224 ^@ NM_001018005.1(TPM1):c.115-189G>C http://identifiers.org/clinvar/377431 ^@ NM_174917.4(ACSF3):c.996A>T (p.Ser332=) http://identifiers.org/clinvar/386069 ^@ NM_002435.2(MPI):c.670+11T>C http://identifiers.org/clinvar/47434 ^@ NM_003319.4(TTN):c.57167C>A (p.Thr19056Lys) http://identifiers.org/clinvar/47484 ^@ NM_133378.4(TTN):c.81154C>T (p.Leu27052=) http://identifiers.org/clinvar/47534 ^@ NM_133378.4(TTN):c.8609A>T (p.Gln2870Leu) http://identifiers.org/clinvar/47584 ^@ NM_133378.4(TTN):c.89644G>A (p.Val29882Ile) http://identifiers.org/clinvar/47634 ^@ NM_001256850.1(TTN):c.96322G>A (p.Val32108Met) http://identifiers.org/clinvar/47684 ^@ TTN:c.105180G>C (p.Glu35060Asp) http://identifiers.org/clinvar/47734 ^@ NM_133379.4(TTN):c.11168C>T (p.Thr3723Met) http://identifiers.org/clinvar/47784 ^@ NM_133379.4(TTN):c.15285_15317dup33 (p.Glu5112_Ala5113insThrLeuGluArgTyrSerThrProProGlyGlu) http://identifiers.org/clinvar/47834 ^@ NM_133379.4(TTN):c.*265+5281A>G http://identifiers.org/clinvar/47884 ^@ NM_139319.2(SLC17A8):c.54G>A (p.Lys18=) http://identifiers.org/clinvar/47934 ^@ NM_144612.6(LOXHD1):c.3463A>G (p.Arg1155Gly) http://identifiers.org/clinvar/47984 ^@ NM_153676.3(USH1C):c.1872G>A (p.Ser624=) http://identifiers.org/clinvar/48036 ^@ NM_005572.3(LMNA):c.1223A>C (p.Gln408Pro) http://identifiers.org/clinvar/48437 ^@ NM_206933.2(USH2A):c.1434G>C (p.Glu478Asp) http://identifiers.org/clinvar/48487 ^@ NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) http://identifiers.org/clinvar/222 ^@ NM_000027.3(AGA):c.179G>A (p.Gly60Asp) http://identifiers.org/clinvar/277 ^@ 5'UTR-exon 1 deletion (2703 bp) http://identifiers.org/clinvar/286 ^@ NM_000552.4(VWF):c.4820T>A (p.Val1607Asp) http://identifiers.org/clinvar/383 ^@ NM_000308.3(CTSA):c.448G>A (p.Val150Met) http://identifiers.org/clinvar/397 ^@ NM_019892.5(INPP5E):c.1543C>T (p.Arg515Trp) http://identifiers.org/clinvar/429 ^@ NM_001042631.2(SDHAF1):c.169G>C (p.Gly57Arg) http://identifiers.org/clinvar/242821 ^@ NM_001012515.2(FECH):c.1242T>A (p.Asn414Lys) http://identifiers.org/clinvar/926 ^@ NM_000404.3(GLB1):c.152T>C (p.Ile51Thr) http://identifiers.org/clinvar/940 ^@ NM_000404.3(GLB1):c.1313G>A (p.Gly438Glu) http://identifiers.org/clinvar/954 ^@ NM_000275.2(OCA2):c.1441G>A (p.Ala481Thr) http://identifiers.org/clinvar/1058 ^@ NM_018122.4(DARS2):c.1876C>G (p.Leu626Val) http://identifiers.org/clinvar/1577 ^@ NM_002150.2(HPD):c.97G>A (p.Ala33Thr) http://identifiers.org/clinvar/1622 ^@ NM_000018.3(ACADVL):c.1078_1182del105 http://identifiers.org/clinvar/1993 ^@ NM_182896.2(ARL13B):c.598C>T (p.Arg200Cys) http://identifiers.org/clinvar/2037 ^@ CHD7, 1-BP INS, 8682T http://identifiers.org/clinvar/2082 ^@ NM_000159.3(GCDH):c.1262C>T (p.Ala421Val) http://identifiers.org/clinvar/2128 ^@ NM_005787.5(ALG3):c.165C>T (p.Gly55=) http://identifiers.org/clinvar/2175 ^@ NM_022370.3(ROBO3):c.2113T>C (p.Ser705Pro) http://identifiers.org/clinvar/2265 ^@ NM_000101.3(CYBA):c.70G>A (p.Gly24Arg) http://identifiers.org/clinvar/2310 ^@ NM_005609.3(PYGM):c.1621G>T (p.Glu541Ter) http://identifiers.org/clinvar/2356 ^@ NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) http://identifiers.org/clinvar/2401 ^@ NM_001024943.1(ASL):c.1153C>T (p.Arg385Cys) http://identifiers.org/clinvar/2447 ^@ NM_000434.3(NEU1):c.1088T>C (p.Leu363Pro) http://identifiers.org/clinvar/2493 ^@ EXT1, 1-BP DEL, 1364C http://identifiers.org/clinvar/2539 ^@ NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) http://identifiers.org/clinvar/2587 ^@ NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala) http://identifiers.org/clinvar/2631 ^@ NC_000005.10:g.138975444_139033712del58269 http://identifiers.org/clinvar/2678 ^@ SUMF1, IVS5AS, 1-BP DEL, -2A http://identifiers.org/clinvar/2724 ^@ NM_177986.4(DSG4):c.800C>G (p.Pro267Arg) http://identifiers.org/clinvar/2814 ^@ NM_025074.6(FRAS1):c.5419_5424delTTCTCT (p.Phe1807_Ser1808del) http://identifiers.org/clinvar/2905 ^@ NM_176817.4(TAS2R38):c.785T>C (p.Val262Ala) http://identifiers.org/clinvar/2950 ^@ NM_030665.3(RAI1):c.4685A>G (p.Gln1562Arg) http://identifiers.org/clinvar/2997 ^@ NM_000226.3(KRT9):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/3043 ^@ NM_000051.3(ATM):c.2839-581_2839-578delGTAA http://identifiers.org/clinvar/3090 ^@ NM_000487.5(ARSA):c.862A>C (p.Thr288Pro) http://identifiers.org/clinvar/3142 ^@ NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) http://identifiers.org/clinvar/3190 ^@ DYM, IVS11, G-A, -1 http://identifiers.org/clinvar/3237 ^@ NM_014317.4(PDSS1):c.924T>G (p.Asp308Glu) http://identifiers.org/clinvar/3284 ^@ NM_000268.3(NF2):c.995delA (p.Lys332Serfs) http://identifiers.org/clinvar/3329 ^@ NM_020436.4(SALL4):c.2663A>G (p.His888Arg) http://identifiers.org/clinvar/10163 ^@ NM_000132.3(F8):c.266G>A (p.Gly89Asp) http://identifiers.org/clinvar/10208 ^@ NM_000132.3(F8):c.1214T>G (p.Ile405Ser) http://identifiers.org/clinvar/10253 ^@ NM_000132.3(F8):c.3637delA (p.Ile1213Phefs) http://identifiers.org/clinvar/10299 ^@ NM_000132.3(F8):c.5938C>T (p.His1980Tyr) http://identifiers.org/clinvar/10343 ^@ F8, EX15-22DEL http://identifiers.org/clinvar/10393 ^@ NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) http://identifiers.org/clinvar/10440 ^@ GJB1, 1-BP DEL http://identifiers.org/clinvar/10489 ^@ NM_000202.7(IDS):c.479C>G (p.Pro160Arg) http://identifiers.org/clinvar/10534 ^@ NM_000292.2(PHKA2):c.896A>G (p.Asp299Gly) http://identifiers.org/clinvar/10624 ^@ NM_000133.3(F9):c.1324G>A (p.Gly442Arg) http://identifiers.org/clinvar/10670 ^@ NM_032121.5(MAGT1):c.932T>G (p.Val311Gly) http://identifiers.org/clinvar/10715 ^@ NM_000169.2(GLA):c.902G>A (p.Arg301Gln) http://identifiers.org/clinvar/10760 ^@ GLA, EX3-7DEL http://identifiers.org/clinvar/10805 ^@ MID1, 3-BP DEL, MET438 http://identifiers.org/clinvar/10850 ^@ NM_000054.4(AVPR2):c.541C>T (p.Arg181Cys) http://identifiers.org/clinvar/10897 ^@ FTSJ1, IVS3AS, A-G, -2 http://identifiers.org/clinvar/10941 ^@ NM_001205019.1(GK):c.553-1G>C http://identifiers.org/clinvar/10988 ^@ NM_000531.5(OTC):c.421C>T (p.Arg141Ter) http://identifiers.org/clinvar/11031 ^@ NM_001399.4(EDA):c.181T>C (p.Tyr61His) http://identifiers.org/clinvar/11454 ^@ NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg) http://identifiers.org/clinvar/11505 ^@ NM_003159.2(CDKL5):c.872G>A (p.Cys291Tyr) http://identifiers.org/clinvar/11556 ^@ NM_001449.4(FHL1):c.841T>G (p.Ter281Glu) http://identifiers.org/clinvar/11606 ^@ DCX, 2-BP DEL, 691CT http://identifiers.org/clinvar/11656 ^@ RPS6KA3, 2-BP DEL, 451AG http://identifiers.org/clinvar/11707 ^@ NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) http://identifiers.org/clinvar/11758 ^@ NM_001110556.1(FLNA):c.3562G>A (p.Ala1188Thr) http://identifiers.org/clinvar/11809 ^@ NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) http://identifiers.org/clinvar/11859 ^@ NM_000260.3(MYO7A):c.93C>A (p.Cys31Ter) http://identifiers.org/clinvar/11909 ^@ NM_000203.4(IDUA):c.208C>T (p.Gln70Ter) http://identifiers.org/clinvar/11959 ^@ NM_014425.4(INVS):c.1807C>T (p.Arg603Ter) http://identifiers.org/clinvar/12011 ^@ NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp) http://identifiers.org/clinvar/12061 ^@ NM_000504.3(F10):c.424G>A (p.Glu142Lys) http://identifiers.org/clinvar/12111 ^@ NM_000587.2(C7):c.1458T>A (p.Cys486Ter) http://identifiers.org/clinvar/12161 ^@ CYP21A2, GENE CONVERSION CYP21 FROM CYP21P http://identifiers.org/clinvar/12216 ^@ NM_000490.4(AVP):c.260C>T (p.Ser87Phe) http://identifiers.org/clinvar/12267 ^@ NM_000463.2(UGT1A1):c.1124C>T (p.Ser375Phe) http://identifiers.org/clinvar/12319 ^@ NM_001715.2(BLK):c.211G>A (p.Ala71Thr) http://identifiers.org/clinvar/12370 ^@ NM_000546.5(TP53):c.451C>T (p.Pro151Ser) http://identifiers.org/clinvar/12915 ^@ NM_152296.4(ATP1A3):c.2767G>A (p.Asp923Asn) http://identifiers.org/clinvar/12965 ^@ NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) http://identifiers.org/clinvar/13016 ^@ NM_000539.3(RHO):c.173C>G (p.Thr58Arg) http://identifiers.org/clinvar/13067 ^@ NM_006744.3(RBP4):c.176T>A (p.Ile59Asn) http://identifiers.org/clinvar/13118 ^@ NM_000329.2(RPE65):c.1022T>C (p.Leu341Ser) http://identifiers.org/clinvar/13169 ^@ NM_000322.4(PRPH2):c.500G>A (p.Gly167Asp) http://identifiers.org/clinvar/13220 ^@ NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) http://identifiers.org/clinvar/13271 ^@ NM_000141.4(FGFR2):c.1040C>G (p.Ser347Cys) http://identifiers.org/clinvar/13322 ^@ NM_000313.3(PROS1):c.835C>T (p.Gln279Ter) http://identifiers.org/clinvar/13372 ^@ NM_001042465.2(PSAP):c.1055T>C (p.Leu352Pro) http://identifiers.org/clinvar/13426 ^@ NM_000371.3(TTR):c.424G>A (p.Val142Ile) http://identifiers.org/clinvar/13478 ^@ NM_000219.5(KCNE1):c.221C>T (p.Ser74Leu) http://identifiers.org/clinvar/13528 ^@ NM_003005.3(SELP):c.1918G>C (p.Val640Leu) http://identifiers.org/clinvar/37083 ^@ NM_005270.4(GLI2):c.1885G>A (p.Glu629Lys) http://identifiers.org/clinvar/37169 ^@ NM_005630.2(SLCO2A1):c.1259G>T (p.Cys420Phe) http://identifiers.org/clinvar/37596 ^@ NM_007294.3(BRCA1):c.4484+1G>A http://identifiers.org/clinvar/37649 ^@ NM_007294.3(BRCA1):c.5232_5238delAAACCACins12 (p.?) http://identifiers.org/clinvar/37706 ^@ NM_007294.3(BRCA1):c.827C>G (p.Thr276Arg) http://identifiers.org/clinvar/37756 ^@ NM_000059.3(BRCA2):c.1796_1800delCTTAT (p.Ser599Terfs) http://identifiers.org/clinvar/37810 ^@ NM_000059.3(BRCA2):c.2946A>G (p.Ile982Met) http://identifiers.org/clinvar/37861 ^@ NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del) http://identifiers.org/clinvar/37915 ^@ NM_000059.3(BRCA2):c.4638delT (p.Phe1546Leufs) http://identifiers.org/clinvar/37969 ^@ NM_000059.3(BRCA2):c.5495C>G (p.Ser1832Cys) http://identifiers.org/clinvar/38020 ^@ NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) http://identifiers.org/clinvar/38074 ^@ NM_000059.3(BRCA2):c.6941delC (p.Thr2314Lysfs) http://identifiers.org/clinvar/38124 ^@ NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter) http://identifiers.org/clinvar/38174 ^@ NM_000059.3(BRCA2):c.8633-6T>A http://identifiers.org/clinvar/38224 ^@ NM_000059.3(BRCA2):c.9253A>C (p.Thr3085Pro) http://identifiers.org/clinvar/38280 ^@ NM_000155.3(GALT):c.247G>A (p.Gly83Arg) http://identifiers.org/clinvar/38397 ^@ NM_014252.3(SLC25A15):c.337G>T (p.Gly113Cys) http://identifiers.org/clinvar/38458 ^@ NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter) http://identifiers.org/clinvar/38620 ^@ NM_020975.4(RET):c.1832_1833delGCinsCT (p.Cys611Ser) http://identifiers.org/clinvar/38776 ^@ c3247-?_4198+?del http://identifiers.org/clinvar/38889 ^@ NM_000553.4(WRN):c.3460-2A>C http://identifiers.org/clinvar/38950 ^@ NM_001363.4(DKC1):c.472C>T (p.Arg158Trp) http://identifiers.org/clinvar/39002 ^@ NM_012330.3(KAT6B):c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs) http://identifiers.org/clinvar/39052 ^@ NM_024312.4(GNPTAB):c.2427delC (p.Leu810Trpfs) http://identifiers.org/clinvar/39106 ^@ NM_198253.2(TERT):c.2045G>A (p.Gly682Asp) http://identifiers.org/clinvar/39159 ^@ NM_198578.3(LRRK2):c.3018A>G (p.Ile1006Met) http://identifiers.org/clinvar/39209 ^@ NM_198578.3(LRRK2):c.5457T>C (p.Gly1819=) http://identifiers.org/clinvar/39260 ^@ NM_207352.3(CYP4V2):c.253C>T (p.Arg85Cys) http://identifiers.org/clinvar/39420 ^@ NM_000546.5(TP53):c.542G>T (p.Arg181Leu) http://identifiers.org/clinvar/39473 ^@ NM_001567.3(INPPL1):c.1976C>T (p.Pro659Leu) http://identifiers.org/clinvar/39524 ^@ TGM1, -86C-T http://identifiers.org/clinvar/39574 ^@ NM_152692.4(C1GALT1C1):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/39626 ^@ CHD8, SER62TER http://identifiers.org/clinvar/40487 ^@ NM_002834.4(PTPN11):c.172A>G (p.Asn58Asp) http://identifiers.org/clinvar/40545 ^@ NM_002834.4(PTPN11):c.1282G>A (p.Val428Met) http://identifiers.org/clinvar/40606 ^@ NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) http://identifiers.org/clinvar/40679 ^@ NM_005633.3(SOS1):c.1644T>A (p.Ser548Arg) http://identifiers.org/clinvar/40766 ^@ NM_030662.3(MAP2K2):c.83_84delGCinsAA (p.Gly28Glu) http://identifiers.org/clinvar/40897 ^@ AMELX, 53-KB DEL http://identifiers.org/clinvar/41029 ^@ NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) http://identifiers.org/clinvar/41085 ^@ NM_003611.2(OFD1):c.1757delG (p.Ser586Metfs) http://identifiers.org/clinvar/41142 ^@ NM_003611.2(OFD1):c.710delA (p.Lys237Serfs) http://identifiers.org/clinvar/41194 ^@ NM_003977.3(AIP):c.649C>T (p.Gln217Ter) http://identifiers.org/clinvar/51460 ^@ NM_000059.3(BRCA2):c.341A>G (p.His114Arg) http://identifiers.org/clinvar/51511 ^@ NM_000059.3(BRCA2):c.3723_3725delTAGinsAT (p.Phe1241Leufs) http://identifiers.org/clinvar/51562 ^@ NM_000059.3(BRCA2):c.3915delT (p.Phe1305Leufs) http://identifiers.org/clinvar/51613 ^@ NM_000059.3(BRCA2):c.418A>G (p.Ser140Gly) http://identifiers.org/clinvar/51665 ^@ NM_000059.3(BRCA2):c.4539T>A (p.Asp1513Glu) http://identifiers.org/clinvar/51717 ^@ NM_000059.3(BRCA2):c.4802A>G (p.Asp1601Gly) http://identifiers.org/clinvar/51768 ^@ NM_000059.3(BRCA2):c.5104C>T (p.Pro1702Ser) http://identifiers.org/clinvar/51819 ^@ NM_000059.3(BRCA2):c.5217T>A (p.Tyr1739Ter) http://identifiers.org/clinvar/51873 ^@ NM_000059.3(BRCA2):c.5503A>G (p.Asn1835Asp) http://identifiers.org/clinvar/51925 ^@ NM_000059.3(BRCA2):c.5741G>C (p.Ser1914Thr) http://identifiers.org/clinvar/51976 ^@ NM_000059.3(BRCA2):c.5967dupA (p.Asp1990Argfs) http://identifiers.org/clinvar/52027 ^@ NM_000059.3(BRCA2):c.6198_6199delTT (p.Ser2067Hisfs) http://identifiers.org/clinvar/52080 ^@ NM_000059.3(BRCA2):c.6393_6396delATTA (p.Lys2131Asnfs) http://identifiers.org/clinvar/52132 ^@ NM_000059.3(BRCA2):c.6601delT (p.Ser2201Leufs) http://identifiers.org/clinvar/54716 ^@ NM_007294.3(BRCA1):c.2915delG (p.Gly972Aspfs) http://identifiers.org/clinvar/54766 ^@ NM_007294.3(BRCA1):c.3074C>T (p.Thr1025Ile) http://identifiers.org/clinvar/54816 ^@ NM_007294.3(BRCA1):c.3279delC (p.Tyr1094Ilefs) http://identifiers.org/clinvar/54866 ^@ NM_007294.3(BRCA1):c.3398T>A (p.Leu1133Ter) http://identifiers.org/clinvar/54916 ^@ NM_007294.3(BRCA1):c.3553G>T (p.Glu1185Ter) http://identifiers.org/clinvar/54968 ^@ NM_007294.3(BRCA1):c.3706_3707delAA (p.Asn1236Tyrfs) http://identifiers.org/clinvar/55019 ^@ NM_007294.3(BRCA1):c.3829G>C (p.Ala1277Pro) http://identifiers.org/clinvar/55069 ^@ NM_007294.3(BRCA1):c.3982dupT (p.Ser1328Phefs) http://identifiers.org/clinvar/55120 ^@ NM_007294.3(BRCA1):c.4167_4168delTG (p.Ser1389Argfs) http://identifiers.org/clinvar/55171 ^@ NM_007294.3(BRCA1):c.4331_4338delATCCAGAA (p.Asn1444Thrfs) http://identifiers.org/clinvar/55222 ^@ NM_007294.3(BRCA1):c.4528delA (p.Met1510Cysfs) http://identifiers.org/clinvar/55272 ^@ NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro) http://identifiers.org/clinvar/55323 ^@ NM_007294.3(BRCA1):c.493_494delCT (p.Leu165Glufs) http://identifiers.org/clinvar/55373 ^@ NM_007294.3(BRCA1):c.5072C>G (p.Thr1691Arg) http://identifiers.org/clinvar/55423 ^@ NM_007294.3(BRCA1):c.5152+1G>T http://identifiers.org/clinvar/55473 ^@ NM_007294.3(BRCA1):c.5239C>T (p.Gln1747Ter) http://identifiers.org/clinvar/55526 ^@ NM_007294.3(BRCA1):c.5328dupC (p.Thr1777Hisfs) http://identifiers.org/clinvar/55576 ^@ NM_007294.3(BRCA1):c.5429T>G (p.Val1810Gly) http://identifiers.org/clinvar/55626 ^@ NM_007294.3(BRCA1):c.5556C>G (p.Thr1852=) http://identifiers.org/clinvar/55678 ^@ NM_007294.3(BRCA1):c.71G>A (p.Cys24Tyr) http://identifiers.org/clinvar/55729 ^@ NM_007294.3(BRCA1):c.835delC (p.His279Metfs) http://identifiers.org/clinvar/55791 ^@ NM_000059.3(BRCA2):c.2834_2835delAA (p.Lys945Argfs) http://identifiers.org/clinvar/242668 ^@ NM_001142864.3(PIEZO1):c.6059C>T (p.Ala2020Val) http://identifiers.org/clinvar/55858 ^@ NM_001003800.1(BICD2):c.2108C>T (p.Thr703Met) http://identifiers.org/clinvar/55935 ^@ NM_000059.3(BRCA2):c.5961G>T (p.Gln1987His) http://identifiers.org/clinvar/55988 ^@ NM_000111.2(SLC26A3):c.2024_2026dupTCA (p.Ile675_Arg676insIle) http://identifiers.org/clinvar/56041 ^@ NM_000170.2(GLDC):c.1285_1286insCAAA (p.Leu429Profs) http://identifiers.org/clinvar/56092 ^@ NM_000170.2(GLDC):c.28delC (p.Leu10Cysfs) http://identifiers.org/clinvar/56146 ^@ NM_000243.2(MEFV):c.1949C>A (p.Ser650Tyr) http://identifiers.org/clinvar/56197 ^@ NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) http://identifiers.org/clinvar/56248 ^@ NM_001042432.1(CLN3):c.1056G>C (p.Gln352His) http://identifiers.org/clinvar/56298 ^@ NM_001080522.2(CC2D2A):c.1537T>A (p.Trp513Arg) http://identifiers.org/clinvar/56502 ^@ NM_004646.3(NPHS1):c.3595-2A>G http://identifiers.org/clinvar/56553 ^@ NM_012434.4(SLC17A5):c.1226G>A (p.Gly409Glu) http://identifiers.org/clinvar/56607 ^@ NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) http://identifiers.org/clinvar/56661 ^@ NM_017890.4(VPS13B):c.404dupT (p.Leu135Phefs) http://identifiers.org/clinvar/56711 ^@ NM_018941.3(CLN8):c.507C>T (p.Ser169=) http://identifiers.org/clinvar/101448 ^@ NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) http://identifiers.org/clinvar/101500 ^@ NM_014740.3(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[13] http://identifiers.org/clinvar/102461 ^@ NM_000277.1(PAH):c.-224G>A http://identifiers.org/clinvar/102513 ^@ NM_000277.1(PAH):c.1066_1067ins6 http://identifiers.org/clinvar/102569 ^@ NM_000277.1(PAH):c.121C>T (p.Leu41Phe) http://identifiers.org/clinvar/102621 ^@ NM_000277.1(PAH):c.190delC (p.His64Thrfs) http://identifiers.org/clinvar/102675 ^@ NM_000277.1(PAH):c.441+6T>C http://identifiers.org/clinvar/102726 ^@ NM_000277.1(PAH):c.529G>A (p.Val177Met) http://identifiers.org/clinvar/102777 ^@ NM_000277.1(PAH):c.671T>C (p.Ile224Thr) http://identifiers.org/clinvar/102827 ^@ NM_000277.1(PAH):c.769G>A (p.Gly257Ser) http://identifiers.org/clinvar/102879 ^@ NM_000277.1(PAH):c.853C>T (p.His285Tyr) http://identifiers.org/clinvar/102937 ^@ NM_021209.4(NLRC4):c.-306A>G http://identifiers.org/clinvar/102987 ^@ NM_153447.4(NLRP5):c.-250C>T http://identifiers.org/clinvar/103037 ^@ NM_001079821.2(NLRP3):c.2499-7A>T http://identifiers.org/clinvar/103087 ^@ NM_006092.2(NOD1):c.-211+198G>A http://identifiers.org/clinvar/103137 ^@ NM_024618.3(NLRX1):c.230-111C>T http://identifiers.org/clinvar/103187 ^@ NM_032206.4(NLRC5):c.3987-248C>T http://identifiers.org/clinvar/103237 ^@ NM_138329.2(NLRP6):c.2105+180A>C http://identifiers.org/clinvar/103287 ^@ NM_153447.4(NLRP5):c.2787-133C>T http://identifiers.org/clinvar/103337 ^@ NM_176821.3(NLRP10):c.217G>A (p.Val73Ile) http://identifiers.org/clinvar/111211 ^@ NM_000416.2(IFNGR1):c.373+116T>C http://identifiers.org/clinvar/111261 ^@ NM_003263.3(TLR1):c.1378A>G (p.Ile460Val) http://identifiers.org/clinvar/120219 ^@ NM_198947.3(FAM111B):c.1883G>A (p.Ser628Asn) http://identifiers.org/clinvar/120273 ^@ NM_000277.1(PAH):c.350C>T (p.Thr117Ile) http://identifiers.org/clinvar/120323 ^@ NM_005211.3(CSF1R):c.2442+1G>T http://identifiers.org/clinvar/125486 ^@ NM_007294.3(BRCA1):c.1101_1102insC (p.Glu368Argfs) http://identifiers.org/clinvar/125562 ^@ U14680.1:n.252_256del5insT http://identifiers.org/clinvar/125649 ^@ NM_007294.3(BRCA1):c.3766dupA (p.Thr1256Asnfs) http://identifiers.org/clinvar/125713 ^@ NM_007294.3(BRCA1):c.4484+10A>G http://identifiers.org/clinvar/125779 ^@ U14680.1:n.5271+73G>A http://identifiers.org/clinvar/125852 ^@ NM_007294.3(BRCA1):c.5467+2T>G http://identifiers.org/clinvar/125910 ^@ NM_007294.3(BRCA1):c.671-49delT http://identifiers.org/clinvar/126337 ^@ NM_020732.3(ARID1B):c.69G>A (p.Ala23=) http://identifiers.org/clinvar/127424 ^@ NM_000051.3(ATM):c.6239A>G (p.Tyr2080Cys) http://identifiers.org/clinvar/127475 ^@ NM_000057.3(BLM):c.1315A>G (p.Met439Val) http://identifiers.org/clinvar/127525 ^@ NM_000077.4(CDKN2A):c.325G>C (p.Ala109Pro) http://identifiers.org/clinvar/127575 ^@ NM_000179.2(MSH6):c.2951A>C (p.Asn984Thr) http://identifiers.org/clinvar/127626 ^@ NM_000251.2(MSH2):c.1122G>C (p.Gln374His) http://identifiers.org/clinvar/127682 ^@ NM_000314.6(PTEN):c.-943C>T http://identifiers.org/clinvar/127735 ^@ NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn) http://identifiers.org/clinvar/127785 ^@ NM_000535.6(PMS2):c.251-20T>G http://identifiers.org/clinvar/161293 ^@ NM_001257374.2(LMNA):c.1534C>T (p.Arg512Cys) http://identifiers.org/clinvar/161394 ^@ NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) http://identifiers.org/clinvar/161343 ^@ NM_000313.3(PROS1):c.1528G>A (p.Val510Met) http://identifiers.org/clinvar/161243 ^@ NM_000138.4(FBN1):c.1345G>A (p.Val449Ile) http://identifiers.org/clinvar/161812 ^@ NM_147150.2(PALM2-AKAP2):c.625G>T (p.Glu209Ter) http://identifiers.org/clinvar/161974 ^@ NM_001845.5(COL4A1):c.2263G>A (p.Gly755Arg) http://identifiers.org/clinvar/178062 ^@ NM_170707.3(LMNA):c.1376A>G (p.Asn459Ser) http://identifiers.org/clinvar/163755 ^@ NM_004700.3(KCNQ4):c.1668C>T (p.Tyr556=) http://identifiers.org/clinvar/163879 ^@ NM_170707.3(LMNA):c.1699-8C>G http://identifiers.org/clinvar/179220 ^@ NM_001035.2(RYR2):c.1822C>T (p.His608Tyr) http://identifiers.org/clinvar/179670 ^@ NM_133378.4(TTN):c.43414A>G (p.Ile14472Val) http://identifiers.org/clinvar/179520 ^@ NM_133378.4(TTN):c.66353C>G (p.Ser22118Cys) http://identifiers.org/clinvar/165882 ^@ NM_133378.4(TTN):c.59614G>A (p.Gly19872Ser) http://identifiers.org/clinvar/179820 ^@ NM_201557.3(FHL2):c.284A>G (p.Asn95Ser) http://identifiers.org/clinvar/179120 ^@ NM_133378.4(TTN):c.58746T>G (p.Ala19582=) http://identifiers.org/clinvar/180020 ^@ NM_133378.4(TTN):c.97432G>A (p.Glu32478Lys) http://identifiers.org/clinvar/178162 ^@ NM_003319.4(TTN):c.71967G>A (p.Lys23989=) http://identifiers.org/clinvar/165722 ^@ NM_133378.4(TTN):c.86341C>T (p.Arg28781Cys) http://identifiers.org/clinvar/180070 ^@ NM_133378.4(TTN):c.84175A>G (p.Ile28059Val) http://identifiers.org/clinvar/179920 ^@ NM_133378.4(TTN):c.71513G>C (p.Cys23838Ser) http://identifiers.org/clinvar/178212 ^@ NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) http://identifiers.org/clinvar/166071 ^@ NM_133378.4(TTN):c.33638G>A (p.Arg11213His) http://identifiers.org/clinvar/178262 ^@ NM_133379.4(TTN):c.13951A>G (p.Ser4651Gly) http://identifiers.org/clinvar/179270 ^@ NM_005633.3(SOS1):c.2061G>A (p.Leu687=) http://identifiers.org/clinvar/165379 ^@ NM_198253.2(TERT):c.1812A>G (p.Ala604=) http://identifiers.org/clinvar/180120 ^@ NM_194323.2(OTOF):c.3624delG (p.Leu1209Cysfs) http://identifiers.org/clinvar/178512 ^@ NM_194248.2(OTOF):c.2465G>A (p.Arg822Gln) http://identifiers.org/clinvar/165968 ^@ NM_133378.4(TTN):c.47674A>G (p.Thr15892Ala) http://identifiers.org/clinvar/179720 ^@ NM_004415.3(DSP):c.1751delA (p.Glu584Glyfs) http://identifiers.org/clinvar/177658 ^@ NM_005228.4(EGFR):c.2308_2309insGTT (p.Asp770delinsGlyTyr) http://identifiers.org/clinvar/179170 ^@ NM_000441.1(SLC26A4):c.1614+1G>C http://identifiers.org/clinvar/177759 ^@ NM_005228.4(EGFR):c.2484G>A (p.Leu828=) http://identifiers.org/clinvar/198457 ^@ NM_003494.3(DYSF):c.664-8G>C http://identifiers.org/clinvar/198511 ^@ NM_004385.4(VCAN):c.2168G>A (p.Gly723Glu) http://identifiers.org/clinvar/198562 ^@ NM_014467.2(SRPX2):c.693C>A (p.His231Gln) http://identifiers.org/clinvar/198614 ^@ NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) http://identifiers.org/clinvar/198665 ^@ NM_004006.2(DMD):c.10554-2A>G http://identifiers.org/clinvar/198717 ^@ NM_000337.5(SGCD):c.632A>G (p.Asn211Ser) http://identifiers.org/clinvar/198771 ^@ NM_001298.2(CNGA3):c.740C>T (p.Thr247Met) http://identifiers.org/clinvar/198823 ^@ NM_005477.2(HCN4):c.2553A>G (p.Thr851=) http://identifiers.org/clinvar/198879 ^@ NM_015922.2(NSDHL):c.842G>A (p.Arg281His) http://identifiers.org/clinvar/198932 ^@ NM_199292.2(TH):c.841G>C (p.Glu281Gln) http://identifiers.org/clinvar/198983 ^@ NM_000033.3(ABCD1):c.1955T>A (p.Ile652Asn) http://identifiers.org/clinvar/199034 ^@ NM_000642.2(AGL):c.1160G>A (p.Arg387Gln) http://identifiers.org/clinvar/199087 ^@ NM_003482.3(KMT2D):c.1149C>T (p.Asp383=) http://identifiers.org/clinvar/199139 ^@ NM_015404.3(WHRN):c.1943C>A (p.Ser648Tyr) http://identifiers.org/clinvar/199190 ^@ NM_153252.4(BRWD3):c.814-4dupT http://identifiers.org/clinvar/199245 ^@ NM_001267550.2(TTN):c.28983G>A (p.Val9661=) http://identifiers.org/clinvar/201231 ^@ NM_001035.2(RYR2):c.2629C>T (p.His877Tyr) http://identifiers.org/clinvar/201285 ^@ NM_001035.2(RYR2):c.8408G>A (p.Arg2803Gln) http://identifiers.org/clinvar/201340 ^@ NM_001035.2(RYR2):c.12611C>T (p.Ala4204Val) http://identifiers.org/clinvar/199694 ^@ NM_000090.3(COL3A1):c.1348-4delT http://identifiers.org/clinvar/199914 ^@ NM_004415.3(DSP):c.243_251delCTTGATGCG (p.Cys81_Ile418delinsTer) http://identifiers.org/clinvar/199855 ^@ NM_004415.3(DSP):c.888C>G (p.Tyr296Ter) http://identifiers.org/clinvar/200304 ^@ NM_000238.3(KCNH2):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/200196 ^@ NM_000138.4(FBN1):c.6656T>G (p.Phe2219Cys) http://identifiers.org/clinvar/200082 ^@ NM_000138.4(FBN1):c.6416A>G (p.His2139Arg) http://identifiers.org/clinvar/200027 ^@ NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) http://identifiers.org/clinvar/199972 ^@ NM_000138.4(FBN1):c.1583G>A (p.Cys528Tyr) http://identifiers.org/clinvar/200142 ^@ NM_000138.4(FBN1):c.287G>C (p.Arg96Thr) http://identifiers.org/clinvar/199802 ^@ NM_001943.4(DSG2):c.875G>T (p.Arg292Leu) http://identifiers.org/clinvar/199748 ^@ NM_000090.3(COL3A1):c.798_799delAG http://identifiers.org/clinvar/230156 ^@ NM_005732.3(RAD50):c.1332G>T (p.Glu444Asp) http://identifiers.org/clinvar/230856 ^@ NM_005732.3(RAD50):c.3510_3578dup69 (p.Thr1193_Ala1194insGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThr) http://identifiers.org/clinvar/232746 ^@ NM_000535.6(PMS2):c.6G>A (p.Glu2=) http://identifiers.org/clinvar/232846 ^@ NM_000368.4(TSC1):c.1058G>A (p.Cys353Tyr) http://identifiers.org/clinvar/232796 ^@ NM_000314.6(PTEN):c.951A>C (p.Val317=) http://identifiers.org/clinvar/231106 ^@ NM_000051.3(ATM):c.3334C>G (p.Pro1112Ala) http://identifiers.org/clinvar/230756 ^@ NM_000051.3(ATM):c.4302G>A (p.Lys1434=) http://identifiers.org/clinvar/230606 ^@ NM_000051.3(ATM):c.4677T>C (p.Ile1559=) http://identifiers.org/clinvar/231356 ^@ NM_000051.3(ATM):c.6795C>G (p.Phe2265Leu) http://identifiers.org/clinvar/232996 ^@ NM_000051.3(ATM):c.7874A>C (p.Asp2625Ala) http://identifiers.org/clinvar/231206 ^@ NM_000051.3(ATM):c.8596C>T (p.Leu2866Phe) http://identifiers.org/clinvar/230456 ^@ NM_000059.3(BRCA2):c.1909+2T>A http://identifiers.org/clinvar/232896 ^@ NM_000059.3(BRCA2):c.4118T>C (p.Met1373Thr) http://identifiers.org/clinvar/231806 ^@ NM_000059.3(BRCA2):c.4683T>C (p.His1561=) http://identifiers.org/clinvar/231056 ^@ NM_000059.3(BRCA2):c.4782G>T (p.Met1594Ile) http://identifiers.org/clinvar/230556 ^@ NM_000059.3(BRCA2):c.7516C>T (p.Gln2506Ter) http://identifiers.org/clinvar/231256 ^@ NM_000548.4(TSC2):c.4137G>T (p.Ser1379=) http://identifiers.org/clinvar/230356 ^@ NM_024675.3(PALB2):c.2965G>A (p.Val989Ile) http://identifiers.org/clinvar/230056 ^@ NM_024675.3(PALB2):c.2482_2504del23insAAGGTACAAT (p.Cys828Lysfs) http://identifiers.org/clinvar/231756 ^@ NM_024675.3(PALB2):c.1425_1426insT (p.Arg476Terfs) http://identifiers.org/clinvar/230956 ^@ NM_004360.4(CDH1):c.124_126delCCCinsT (p.Pro42Serfs) http://identifiers.org/clinvar/229956 ^@ NM_001042492.2(NF1):c.2968A>C (p.Thr990Pro) http://identifiers.org/clinvar/232946 ^@ NM_001042492.2(NF1):c.4409G>A (p.Ser1470Asn) http://identifiers.org/clinvar/231156 ^@ NM_001042492.2(NF1):c.4671A>C (p.Thr1557=) http://identifiers.org/clinvar/230506 ^@ NM_001042492.2(NF1):c.5191T>G (p.Leu1731Val) http://identifiers.org/clinvar/231006 ^@ NM_001042492.2(NF1):c.6425G>A (p.Ser2142Asn) http://identifiers.org/clinvar/231406 ^@ NM_007294.3(BRCA1):c.1505_1509delTAAAG (p.Leu502Serfs) http://identifiers.org/clinvar/230306 ^@ NM_000546.5(TP53):c.1079G>A (p.Gly360Glu) http://identifiers.org/clinvar/230256 ^@ NM_000546.5(TP53):c.577C>T (p.His193Tyr) http://identifiers.org/clinvar/230006 ^@ NM_000546.5(TP53):c.558T>A (p.Asp186Glu) http://identifiers.org/clinvar/230806 ^@ NM_007194.3(CHEK2):c.1593G>A (p.Glu531=) http://identifiers.org/clinvar/230206 ^@ NM_007194.3(CHEK2):c.1315C>T (p.Gln439Ter) http://identifiers.org/clinvar/236105 ^@ NM_000350.2(ABCA4):c.3815T>C (p.Ile1272Thr) http://identifiers.org/clinvar/236155 ^@ NM_004621.5(TRPC6):c.2644+27C>G http://identifiers.org/clinvar/236217 ^@ NM_012102.3(RERE):c.3785C>G (p.Pro1262Arg) http://identifiers.org/clinvar/236293 ^@ NM_198578.3(LRRK2):c.4358A>G (p.H1453R) http://identifiers.org/clinvar/236344 ^@ NC_000002.10:g.50968208_51120644del152437 http://identifiers.org/clinvar/236394 ^@ NC_000015.9:g.22750305_23175280dup424976 http://identifiers.org/clinvar/236545 ^@ NM_206933.2(USH2A):c.6470delG (p.Arg2157Lysfs) http://identifiers.org/clinvar/236445 ^@ NM_001199771.1(RDH5):c.536A>G (p.Lys179Arg) http://identifiers.org/clinvar/236495 ^@ NM_000554.5(CRX):c.605delG (p.Cys202Serfs) http://identifiers.org/clinvar/239445 ^@ NM_003000.2(SDHB):c.808A>G (p.Met270Val) http://identifiers.org/clinvar/241035 ^@ NM_015284.3(SZT2):c.6119+3A>T http://identifiers.org/clinvar/241285 ^@ NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro) http://identifiers.org/clinvar/238841 ^@ NM_001267550.2(TTN):c.74763C>T (p.Ser24921=) http://identifiers.org/clinvar/241985 ^@ NM_152383.4(DIS3L2):c.783G>A (p.Leu261=) http://identifiers.org/clinvar/241935 ^@ NM_145038.4(DRC1):c.15G>A (p.Gly5=) http://identifiers.org/clinvar/239845 ^@ NM_004304.4(ALK):c.4811A>G (p.Tyr1604Cys) http://identifiers.org/clinvar/239795 ^@ NM_004304.4(ALK):c.1376A>G (p.Gln459Arg) http://identifiers.org/clinvar/240196 ^@ NM_005633.3(SOS1):c.1007A>G (p.Gln336Arg) http://identifiers.org/clinvar/239142 ^@ NM_002354.2(EPCAM):c.835G>C (p.Val279Leu) http://identifiers.org/clinvar/237401 ^@ NM_000251.2(MSH2):c.656G>C (p.Arg219Thr) http://identifiers.org/clinvar/237150 ^@ NM_000179.2(MSH6):c.2023G>A (p.Glu675Lys) http://identifiers.org/clinvar/237201 ^@ NM_000179.2(MSH6):c.3881G>T (p.Cys1294Phe) http://identifiers.org/clinvar/240985 ^@ NM_015120.4(ALMS1):c.2068A>G (p.Thr690Ala) http://identifiers.org/clinvar/241735 ^@ NM_033084.4(FANCD2):c.2444G>A (p.Arg815Gln) http://identifiers.org/clinvar/237351 ^@ NM_000249.3(MLH1):c.928A>G (p.Thr310Ala) http://identifiers.org/clinvar/240045 ^@ NM_004656.3(BAP1):c.1268C>A (p.Thr423Lys) http://identifiers.org/clinvar/239595 ^@ NM_003924.3(PHOX2B):c.765_779delGGCAGCGGCGGCAGC (p.Ala256_Ala260del) http://identifiers.org/clinvar/240296 ^@ NM_006206.4(PDGFRA):c.1121+5A>G http://identifiers.org/clinvar/237251 ^@ NM_000222.2(KIT):c.1947T>C (p.Asn649=) http://identifiers.org/clinvar/236595 ^@ NM_000038.5(APC):c.3804A>G (p.Pro1268=) http://identifiers.org/clinvar/236645 ^@ NM_000038.5(APC):c.7443T>A (p.Thr2481=) http://identifiers.org/clinvar/242235 ^@ NM_198253.2(TERT):c.2991G>A (p.Val997=) http://identifiers.org/clinvar/239092 ^@ NM_001999.3(FBN2):c.7595-8A>G http://identifiers.org/clinvar/238991 ^@ NM_001369.2(DNAH5):c.9986T>C (p.Leu3329Pro) http://identifiers.org/clinvar/241435 ^@ NM_022455.4(NSD1):c.5382C>T (p.Phe1794=) http://identifiers.org/clinvar/239645 ^@ NM_004168.3(SDHA):c.1398A>G (p.Ala466=) http://identifiers.org/clinvar/237301 ^@ NM_000238.3(KCNH2):c.76+8G>A http://identifiers.org/clinvar/238941 ^@ NM_001277115.1(DNAH11):c.9110A>G (p.His3037Arg) http://identifiers.org/clinvar/240935 ^@ NM_014855.2(AP5Z1):c.1529G>A (p.Arg510Gln) http://identifiers.org/clinvar/259895 ^@ NM_006005.3(WFS1):c.1134C>G (p.Thr378=) http://identifiers.org/clinvar/261984 ^@ NM_031889.2(ENAM):c.1943T>C (p.Ile648Thr) http://identifiers.org/clinvar/259745 ^@ NM_005340.6(HINT1):c.57T>C (p.Phe19=) http://identifiers.org/clinvar/260045 ^@ NM_006846.3(SPINK5):c.1344G>A (p.Arg448=) http://identifiers.org/clinvar/261584 ^@ NM_022455.4(NSD1):c.3330C>T (p.Phe1110=) http://identifiers.org/clinvar/259244 ^@ NM_004168.3(SDHA):c.1799G>A (p.Arg600Gln) http://identifiers.org/clinvar/256355 ^@ NM_000521.3(HEXB):c.1258A>G (p.Ile420Val) http://identifiers.org/clinvar/260445 ^@ NM_014845.5(FIG4):c.1271+32G>A http://identifiers.org/clinvar/262184 ^@ NM_033071.3(SYNE1):c.22806+48G>A http://identifiers.org/clinvar/261134 ^@ NM_019105.6(TNXB):c.3380A>G (p.Lys1127Arg) http://identifiers.org/clinvar/261434 ^@ NM_021922.2(FANCE):c.249-35A>G http://identifiers.org/clinvar/262384 ^@ NM_138694.3(PKHD1):c.11340T>C (p.Pro3780=) http://identifiers.org/clinvar/259344 ^@ NM_004370.5(COL12A1):c.6479A>T (p.Glu2160Val) http://identifiers.org/clinvar/255416 ^@ NM_000168.5(GLI3):c.1029-7C>T http://identifiers.org/clinvar/256305 ^@ NM_000501.3(ELN):c.2033-16A>G http://identifiers.org/clinvar/258994 ^@ NM_003235.4(TG):c.4506T>C (p.Ala1502=) http://identifiers.org/clinvar/257055 ^@ NM_001017420.2(ESCO2):c.702A>G (p.Gln234=) http://identifiers.org/clinvar/261084 ^@ NM_019098.4(CNGB3):c.1781+10A>T http://identifiers.org/clinvar/256855 ^@ NM_001003722.1(GLE1):c.1000G>A (p.Glu334Lys) http://identifiers.org/clinvar/260145 ^@ NM_007171.3(POMT1):c.2052C>T (p.Ile684=) http://identifiers.org/clinvar/262434 ^@ NM_139025.4(ADAMTS13):c.2218G>A (p.Glu740Lys) http://identifiers.org/clinvar/255066 ^@ NM_000093.4(COL5A1):c.2593-45G>A http://identifiers.org/clinvar/260195 ^@ NM_012144.3(DNAI1):c.1064-20C>T http://identifiers.org/clinvar/255316 ^@ NM_000141.4(FGFR2):c.1941C>T (p.Leu647=) http://identifiers.org/clinvar/255166 ^@ NM_000124.3(ERCC6):c.3778+16C>T http://identifiers.org/clinvar/261334 ^@ NM_020549.4(CHAT):c.327G>A (p.Thr109=) http://identifiers.org/clinvar/257405 ^@ NM_001083116.1(PRF1):c.630C>T (p.Pro210=) http://identifiers.org/clinvar/260245 ^@ NM_012330.3(KAT6B):c.4278C>T (p.Ala1426=) http://identifiers.org/clinvar/259945 ^@ NM_006204.3(PDE6C):c.2501A>G (p.Glu834Gly) http://identifiers.org/clinvar/255566 ^@ NM_000218.2(KCNQ1):c.1140G>A (p.Arg380=) http://identifiers.org/clinvar/259544 ^@ NM_004813.2(PEX16):c.307G>A (p.Val103Met) http://identifiers.org/clinvar/255616 ^@ NM_000244.3(MEN1):c.1018C>A (p.Arg340=) http://identifiers.org/clinvar/255666 ^@ NM_000260.3(MYO7A):c.6439-31G>A http://identifiers.org/clinvar/261684 ^@ NM_024079.4(ALG8):c.899-46A>G http://identifiers.org/clinvar/261234 ^@ NM_020376.3(PNPLA2):c.1430C>G (p.Pro477Arg) http://identifiers.org/clinvar/259644 ^@ NM_005123.3(NR1H4):c.919+19A>C http://identifiers.org/clinvar/261184 ^@ NM_019844.3(SLCO1B3):c.334T>G (p.Ser112Ala) http://identifiers.org/clinvar/258594 ^@ NM_002234.3(KCNA5):c.1149T>C (p.Gly383=) http://identifiers.org/clinvar/256655 ^@ NM_000552.4(VWF):c.1548T>C (p.Tyr516=) http://identifiers.org/clinvar/256705 ^@ NM_000552.4(VWF):c.998-27C>T http://identifiers.org/clinvar/261834 ^@ NM_025114.3(CEP290):c.2217+45T>C http://identifiers.org/clinvar/260395 ^@ NM_014363.5(SACS):c.2094-14C>T http://identifiers.org/clinvar/254766 ^@ NM_000053.3(ATP7B):c.2976C>A (p.Pro992=) http://identifiers.org/clinvar/261384 ^@ NM_020937.3(FANCM):c.2749A>G (p.Ile917Val) http://identifiers.org/clinvar/257105 ^@ NM_001024858.2(SPTB):c.2937C>T (p.Ser979=) http://identifiers.org/clinvar/260295 ^@ NM_013382.5(POMT2):c.1653+38G>A http://identifiers.org/clinvar/254866 ^@ NM_000070.2(CAPN3):c.2079A>G (p.Thr693=) http://identifiers.org/clinvar/332990 ^@ NM_201548.4(CERKL):c.*743G>A http://identifiers.org/clinvar/335831 ^@ NM_014946.3(SPAST):c.644G>A (p.Ser215Asn) http://identifiers.org/clinvar/335181 ^@ NM_004544.3(NDUFA10):c.*1214C>T http://identifiers.org/clinvar/335231 ^@ NM_004321.7(KIF1A):c.*1960G>A http://identifiers.org/clinvar/333140 ^@ NM_000393.4(COL5A2):c.2544C>T (p.Ala848=) http://identifiers.org/clinvar/332890 ^@ NM_133378.4(TTN):c.28279+15T>G http://identifiers.org/clinvar/333040 ^@ NM_002500.4(NEUROD1):c.-60G>A http://identifiers.org/clinvar/335681 ^@ NM_004304.4(ALK):c.*62_*65dupAATG http://identifiers.org/clinvar/335781 ^@ NM_000379.3(XDH):c.1800C>T (p.Tyr600=) http://identifiers.org/clinvar/335881 ^@ NM_014946.3(SPAST):c.*2399C>T http://identifiers.org/clinvar/335931 ^@ NM_000104.3(CYP1B1):c.*1075G>C http://identifiers.org/clinvar/334080 ^@ NM_000384.2(APOB):c.12219C>T (p.Asn4073=) http://identifiers.org/clinvar/334130 ^@ NM_000384.2(APOB):c.6656G>A (p.Arg2219His) http://identifiers.org/clinvar/334180 ^@ NM_000384.2(APOB):c.602C>T (p.Thr201Ile) http://identifiers.org/clinvar/334231 ^@ NM_173076.2(ABCA12):c.5633C>A (p.Thr1878Asn) http://identifiers.org/clinvar/334281 ^@ NM_014140.3(SMARCAL1):c.-200G>A http://identifiers.org/clinvar/334531 ^@ NM_015311.2(OBSL1):c.750C>T (p.Cys250=) http://identifiers.org/clinvar/342278 ^@ NM_016247.3(IMPG2):c.*3774G>A http://identifiers.org/clinvar/342867 ^@ NM_053025.3(MYLK):c.5441C>T (p.Thr1814Ile) http://identifiers.org/clinvar/335081 ^@ NM_000463.2(UGT1A1):c.477C>T (p.Ile159=) http://identifiers.org/clinvar/334731 ^@ NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) http://identifiers.org/clinvar/342917 ^@ NM_053025.3(MYLK):c.-228C>G http://identifiers.org/clinvar/334781 ^@ NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) http://identifiers.org/clinvar/343117 ^@ NM_032638.4(GATA2):c.*715G>A http://identifiers.org/clinvar/342328 ^@ NM_016247.3(IMPG2):c.*345C>T http://identifiers.org/clinvar/335431 ^@ NM_194248.2(OTOF):c.5460C>T (p.Thr1820=) http://identifiers.org/clinvar/335131 ^@ NM_004369.3(COL6A3):c.3235G>A (p.Glu1079Lys) http://identifiers.org/clinvar/343417 ^@ NM_003571.3(BFSP2):c.*209C>T http://identifiers.org/clinvar/335281 ^@ NM_004321.7(KIF1A):c.423C>T (p.Ser141=) http://identifiers.org/clinvar/335331 ^@ NM_152783.4(D2HGDH):c.*194G>A http://identifiers.org/clinvar/335381 ^@ NM_000182.4(HADHA):c.1212G>C (p.Val404=) http://identifiers.org/clinvar/335731 ^@ NM_004304.4(ALK):c.-751C>T http://identifiers.org/clinvar/342967 ^@ NM_000373.3(UMPS):c.*1902G>A http://identifiers.org/clinvar/335981 ^@ NM_005633.3(SOS1):c.*2497G>A http://identifiers.org/clinvar/344017 ^@ NM_001041.3(SI):c.4099A>G (p.Arg1367Gly) http://identifiers.org/clinvar/335631 ^@ NM_001029883.2(C2orf71):c.*286G>T http://identifiers.org/clinvar/354833 ^@ NM_007214.4(SEC63):c.*3107T>C http://identifiers.org/clinvar/354883 ^@ NM_007214.4(SEC63):c.*396T>A http://identifiers.org/clinvar/355033 ^@ NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) http://identifiers.org/clinvar/355134 ^@ NM_002667.4(PLN):c.-142T>A http://identifiers.org/clinvar/358562 ^@ NM_000111.2(SLC26A3):c.-88-9T>G http://identifiers.org/clinvar/358612 ^@ NM_014491.3(FOXP2):c.2103C>T (p.Asp701=) http://identifiers.org/clinvar/359112 ^@ NM_000083.2(CLCN1):c.1781G>T (p.Gly594Val) http://identifiers.org/clinvar/359162 ^@ NM_014141.5(CNTNAP2):c.-394C>T http://identifiers.org/clinvar/356023 ^@ NM_004562.2(PRKN):c.-42T>C http://identifiers.org/clinvar/359412 ^@ NM_022458.3(LMBR1):c.*303T>C http://identifiers.org/clinvar/359462 ^@ NM_058246.3(DNAJB6):c.*306C>T http://identifiers.org/clinvar/359562 ^@ NM_001101426.3(ISPD):c.*1145dupT http://identifiers.org/clinvar/351996 ^@ NM_000440.2(PDE6A):c.710G>A (p.Arg237His) http://identifiers.org/clinvar/359662 ^@ NM_001277115.1(DNAH11):c.8972C>T (p.Thr2991Met) http://identifiers.org/clinvar/352294 ^@ NM_000405.4(GM2A):c.*2519G>A http://identifiers.org/clinvar/359812 ^@ NM_001031710.2(KLHL7):c.*795G>A http://identifiers.org/clinvar/359862 ^@ NM_004403.2(DFNA5):c.-329G>A http://identifiers.org/clinvar/352194 ^@ NM_001135243.1(TCOF1):c.289G>A (p.Glu97Lys) http://identifiers.org/clinvar/352344 ^@ NM_000337.5(SGCD):c.*560C>T http://identifiers.org/clinvar/356673 ^@ NM_018965.3(TREM2):c.*111A>G http://identifiers.org/clinvar/356723 ^@ NM_002098.5(GUCA1B):c.*457A>G http://identifiers.org/clinvar/356773 ^@ NM_000322.4(PRPH2):c.*145G>A http://identifiers.org/clinvar/356873 ^@ NM_203290.3(POLR1C):c.229C>T (p.Arg77Ter) http://identifiers.org/clinvar/360551 ^@ NM_000181.3(GUSB):c.1193G>A (p.Arg398His) http://identifiers.org/clinvar/360601 ^@ NM_153033.4(KCTD7):c.*979C>A http://identifiers.org/clinvar/360651 ^@ NM_000501.3(ELN):c.1281C>T (p.Pro427=) http://identifiers.org/clinvar/360701 ^@ NM_000941.2(POR):c.517-4G>A http://identifiers.org/clinvar/353233 ^@ NM_014324.5(AMACR):c.*1367T>C http://identifiers.org/clinvar/353333 ^@ NM_004172.4(SLC1A3):c.*313T>A http://identifiers.org/clinvar/353733 ^@ NM_002203.3(ITGA2):c.227G>A (p.Arg76Gln) http://identifiers.org/clinvar/353783 ^@ NM_002203.3(ITGA2):c.*29G>A http://identifiers.org/clinvar/353833 ^@ NM_002203.3(ITGA2):c.*2716C>G http://identifiers.org/clinvar/353883 ^@ NM_176806.3(MOCS2):c.18+9G>A http://identifiers.org/clinvar/299753 ^@ NM_014915.2(ANKRD26):c.983_986delTCAA (p.Ile328Lysfs) http://identifiers.org/clinvar/363860 ^@ NM_019098.4(CNGB3):c.*379T>G http://identifiers.org/clinvar/306357 ^@ NM_012193.3(FZD4):c.*3746C>T http://identifiers.org/clinvar/299953 ^@ NM_002900.2(RBP3):c.3381G>A (p.Gln1127=) http://identifiers.org/clinvar/306457 ^@ NM_005591.3(MRE11):c.*2106T>C http://identifiers.org/clinvar/306657 ^@ NM_139319.2(SLC17A8):c.*1501_*1502insGT http://identifiers.org/clinvar/364310 ^@ NM_000035.3(ALDOB):c.619G>C (p.Glu207Gln) http://identifiers.org/clinvar/306957 ^@ NM_018082.5(POLR3B):c.*442G>A http://identifiers.org/clinvar/364460 ^@ NM_005502.3(ABCA1):c.474G>A (p.Leu158=) http://identifiers.org/clinvar/307007 ^@ NM_052845.3(MMAB):c.*2835T>C http://identifiers.org/clinvar/364360 ^@ NM_005502.3(ABCA1):c.*875T>A http://identifiers.org/clinvar/307107 ^@ NM_000431.3(MVK):c.*431C>T http://identifiers.org/clinvar/307157 ^@ NM_001681.3(ATP2A2):c.-15C>T http://identifiers.org/clinvar/307207 ^@ NM_001082538.2(TCTN1):c.574T>A (p.Tyr192Asn) http://identifiers.org/clinvar/364660 ^@ NM_000031.5(ALAD):c.-131C>T http://identifiers.org/clinvar/307357 ^@ NM_005996.3(TBX3):c.1790C>T (p.Ala597Val) http://identifiers.org/clinvar/364710 ^@ NM_015404.3(WHRN):c.-583C>T http://identifiers.org/clinvar/307507 ^@ NM_152269.4(C12orf65):c.*483G>A http://identifiers.org/clinvar/364810 ^@ NM_000177.4(GSN):c.1344+4C>T http://identifiers.org/clinvar/364610 ^@ NM_005592.3(MUSK):c.1522G>A (p.Val508Met) http://identifiers.org/clinvar/365010 ^@ NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) http://identifiers.org/clinvar/364960 ^@ NM_002316.3(LMX1B):c.*2966G>A http://identifiers.org/clinvar/364860 ^@ NM_000550.2(TYRP1):c.*59A>C http://identifiers.org/clinvar/365310 ^@ NM_015046.5(SETX):c.*1713C>T http://identifiers.org/clinvar/365060 ^@ NM_003165.3(STXBP1):c.*879G>A http://identifiers.org/clinvar/365410 ^@ NM_000368.4(TSC1):c.*3836G>A http://identifiers.org/clinvar/365110 ^@ NM_003863.3(DPM2):c.*627C>T http://identifiers.org/clinvar/365160 ^@ NM_001130438.2(SPTAN1):c.2037G>C (p.Gln679His) http://identifiers.org/clinvar/365210 ^@ NM_000113.2(TOR1A):c.*1010A>G http://identifiers.org/clinvar/308946 ^@ NM_000289.5(PFKM):c.-112T>G http://identifiers.org/clinvar/308996 ^@ NM_003482.3(KMT2D):c.*108G>C http://identifiers.org/clinvar/365460 ^@ NM_000368.4(TSC1):c.*2142T>C http://identifiers.org/clinvar/309196 ^@ NM_000217.2(KCNA1):c.*3062T>C http://identifiers.org/clinvar/365510 ^@ NM_000368.4(TSC1):c.2965G>T (p.Ala989Ser) http://identifiers.org/clinvar/309246 ^@ NM_000486.5(AQP2):c.*907C>T http://identifiers.org/clinvar/298364 ^@ NM_004376.5(COX15):c.*4439G>A http://identifiers.org/clinvar/309296 ^@ NM_000617.2(SLC11A2):c.*546G>A http://identifiers.org/clinvar/365660 ^@ NM_000787.3(DBH):c.1335+13A>G http://identifiers.org/clinvar/298464 ^@ NM_000392.4(ABCC2):c.3357C>T (p.Ala1119=) http://identifiers.org/clinvar/309596 ^@ NM_000423.2(KRT2):c.1720G>A (p.Gly574Arg) http://identifiers.org/clinvar/309646 ^@ NM_006121.3(KRT1):c.1035C>T (p.Leu345=) http://identifiers.org/clinvar/366500 ^@ NM_001256054.2(C9orf72):c.*309dupT http://identifiers.org/clinvar/310485 ^@ NM_024685.3(BBS10):c.*119G>A http://identifiers.org/clinvar/366750 ^@ NM_032634.3(PIGO):c.*61C>T http://identifiers.org/clinvar/302852 ^@ NM_005188.3(CBL):c.*4584C>A http://identifiers.org/clinvar/367000 ^@ NM_001042413.1(GLIS3):c.125C>T (p.Pro42Leu) http://identifiers.org/clinvar/366550 ^@ NM_005802.4(TOPORS):c.*506A>G http://identifiers.org/clinvar/367050 ^@ NM_004170.5(SLC1A1):c.893T>C (p.Ile298Thr) http://identifiers.org/clinvar/321864 ^@ NM_000304.3(PMP22):c.-74A>G http://identifiers.org/clinvar/340427 ^@ NM_006657.2(FTCD):c.988G>A (p.Gly330Arg) http://identifiers.org/clinvar/321914 ^@ NM_006445.3(PRPF8):c.993-7A>G http://identifiers.org/clinvar/322264 ^@ NM_000430.3(PAFAH1B1):c.1181A>G (p.Tyr394Cys) http://identifiers.org/clinvar/340878 ^@ NM_004782.3(SNAP29):c.*2179G>A http://identifiers.org/clinvar/322514 ^@ NM_001045.5(SLC6A4):c.*1178C>T http://identifiers.org/clinvar/341228 ^@ NM_000343.3(SLC5A1):c.-120C>T http://identifiers.org/clinvar/314939 ^@ NM_004239.4(TRIP11):c.4699-4C>G http://identifiers.org/clinvar/341728 ^@ NM_022098.3(XPNPEP3):c.*3137C>G http://identifiers.org/clinvar/341778 ^@ NM_001429.3(EP300):c.513G>A (p.Ala171=) http://identifiers.org/clinvar/341828 ^@ NM_001429.3(EP300):c.6951G>A (p.Arg2317=) http://identifiers.org/clinvar/341878 ^@ NM_052945.3(TNFRSF13C):c.288G>A (p.Val96=) http://identifiers.org/clinvar/342078 ^@ NM_015166.3(MLC1):c.*1764G>T http://identifiers.org/clinvar/323653 ^@ NM_005910.5(MAPT):c.*76G>A http://identifiers.org/clinvar/367979 ^@ NM_001011658.3(TRAPPC2):c.*942G>T http://identifiers.org/clinvar/368229 ^@ NM_004006.2(DMD):c.*473_*476dupCACA http://identifiers.org/clinvar/316828 ^@ NM_004727.2(SLC24A1):c.*2083C>T http://identifiers.org/clinvar/315039 ^@ NM_000295.4(SERPINA1):c.-190G>A http://identifiers.org/clinvar/317278 ^@ NM_001113378.1(FANCI):c.1512+3A>G http://identifiers.org/clinvar/315439 ^@ NM_022807.4(SNRPN):c.-380C>T http://identifiers.org/clinvar/317429 ^@ NM_018668.4(VPS33B):c.363T>C (p.Tyr121=) http://identifiers.org/clinvar/317579 ^@ NM_000875.4(IGF1R):c.*4439G>C http://identifiers.org/clinvar/316228 ^@ NM_012388.3(BLOC1S6):c.*188T>C http://identifiers.org/clinvar/318131 ^@ NM_001040114.1(MYH11):c.3880-158_3880-157dupGT http://identifiers.org/clinvar/371823 ^@ NM_000038.5(APC):c.3013_3019delGCCCATA (p.Ala1005Lysfs) http://identifiers.org/clinvar/371873 ^@ NM_006231.3(POLE):c.4952+17_4952+19dupCGT http://identifiers.org/clinvar/372410 ^@ NM_005373.2(MPL):c.1468+2T>C http://identifiers.org/clinvar/372773 ^@ NM_001271208.1(NEB):c.9046C>T (p.Arg3016Ter) http://identifiers.org/clinvar/372569 ^@ NM_014049.4(ACAD9):c.514G>A (p.Gly172Arg) http://identifiers.org/clinvar/372517 ^@ NM_006846.3(SPINK5):c.2240+1G>A http://identifiers.org/clinvar/372619 ^@ NM_006265.2(RAD21):c.1352T>G (p.Leu451Arg) http://identifiers.org/clinvar/372876 ^@ NM_004752.3(GCM2):c.1504A>G (p.Asn502Asp) http://identifiers.org/clinvar/372671 ^@ NM_004333.4(BRAF):c.1726G>T (p.Asp576Tyr) http://identifiers.org/clinvar/372825 ^@ NM_000093.4(COL5A1):c.5473C>T (p.Gln1825Ter) http://identifiers.org/clinvar/372723 ^@ NM_004281.3(BAG3):c.268C>T (p.Arg90Ter) http://identifiers.org/clinvar/373129 ^@ NM_000399.4(EGR2):c.464C>T (p.Ser155Phe) http://identifiers.org/clinvar/373029 ^@ NM_003165.3(STXBP1):c.1095_1096delCT (p.Cys366Profs) http://identifiers.org/clinvar/373079 ^@ NM_000192.3(TBX5):c.202delC (p.His68Thrfs) http://identifiers.org/clinvar/372929 ^@ NM_002755.3(MAP2K1):c.186_200delACTGAAGGATGACGA (p.Glu62_Asp66del) http://identifiers.org/clinvar/372464 ^@ NM_000444.5(PHEX):c.2159C>A (p.Ala720Glu) http://identifiers.org/clinvar/372979 ^@ NM_001039590.2(USP9X):c.520_522delCTT (p.Leu174del) http://identifiers.org/clinvar/372359 ^@ NM_001399.4(EDA):c.827G>T (p.Arg276Leu) http://identifiers.org/clinvar/372309 ^@ NM_000489.4(ATRX):c.6532C>T (p.Arg2178Trp) http://identifiers.org/clinvar/375925 ^@ NM_000222.2(KIT):c.2089C>T (p.His697Tyr) http://identifiers.org/clinvar/380985 ^@ NM_001002755.2(NFU1):c.420A>T (p.Thr140=) http://identifiers.org/clinvar/384580 ^@ NM_080916.2(DGUOK):c.18C>G (p.Leu6=) http://identifiers.org/clinvar/393157 ^@ NM_004082.4(DCTN1):c.824G>A (p.Arg275His) http://identifiers.org/clinvar/381735 ^@ NM_000179.2(MSH6):c.2169T>C (p.Gly723=) http://identifiers.org/clinvar/381836 ^@ NM_001135659.2(NRXN1):c.93G>T (p.Leu31=) http://identifiers.org/clinvar/386819 ^@ NM_001692.3(ATP6V1B1):c.1473G>T (p.Gln491His) http://identifiers.org/clinvar/380683 ^@ NM_002880.3(RAF1):c.309C>G (p.His103Gln) http://identifiers.org/clinvar/385030 ^@ NM_004130.3(GYG1):c.143+11C>T http://identifiers.org/clinvar/387969 ^@ NM_005051.2(QARS):c.741A>G (p.Pro247=) http://identifiers.org/clinvar/387369 ^@ NM_020166.4(MCCC1):c.136+19G>T http://identifiers.org/clinvar/379292 ^@ NM_001126128.1(PROK2):c.-35A>G http://identifiers.org/clinvar/378539 ^@ NM_198056.2(SCN5A):c.990T>G (p.Ser330=) http://identifiers.org/clinvar/381886 ^@ NM_199069.1(NDUFAF3):c.-373G>A http://identifiers.org/clinvar/387219 ^@ NM_004393.5(DAG1):c.927C>T (p.Arg309=) http://identifiers.org/clinvar/380043 ^@ NM_005051.2(QARS):c.399C>T (p.His133=) http://identifiers.org/clinvar/378084 ^@ NM_006859.3(LIAS):c.57A>C (p.Arg19Ser) http://identifiers.org/clinvar/381285 ^@ NM_014049.4(ACAD9):c.933G>T (p.Val311=) http://identifiers.org/clinvar/392857 ^@ NM_014845.5(FIG4):c.1983G>A (p.Val661=) http://identifiers.org/clinvar/381135 ^@ NM_002290.4(LAMA4):c.1593G>T (p.Ala531=) http://identifiers.org/clinvar/389608 ^@ NM_006846.3(SPINK5):c.803G>A (p.Arg268His) http://identifiers.org/clinvar/380784 ^@ NM_018341.2(ERMARD):c.870C>T (p.Cys290=) http://identifiers.org/clinvar/383278 ^@ NM_001167734.1(VARS2):c.-54G>C http://identifiers.org/clinvar/384279 ^@ NM_005654.5(NR2F1):c.1197C>T (p.Ile399=) http://identifiers.org/clinvar/386869 ^@ NM_002291.2(LAMB1):c.2542G>C (p.Ala848Pro) http://identifiers.org/clinvar/383328 ^@ NM_001458.4(FLNC):c.6120C>T (p.Asp2040=) http://identifiers.org/clinvar/384880 ^@ NM_024582.4(FAT4):c.3768A>G (p.Arg1256=) http://identifiers.org/clinvar/380935 ^@ NM_178014.3(TUBB):c.277+11C>T http://identifiers.org/clinvar/379642 ^@ NM_000142.4(FGFR3):c.1953A>G (p.Thr651=) http://identifiers.org/clinvar/385380 ^@ NM_014141.5(CNTNAP2):c.2169T>A (p.Pro723=) http://identifiers.org/clinvar/389408 ^@ NM_020320.4(RARS2):c.536-7A>G http://identifiers.org/clinvar/383378 ^@ NM_000238.3(KCNH2):c.1635C>T (p.Tyr545=) http://identifiers.org/clinvar/387019 ^@ NM_001101426.3(ISPD):c.222G>A (p.Arg74=) http://identifiers.org/clinvar/392757 ^@ NM_000168.5(GLI3):c.680-10C>T http://identifiers.org/clinvar/393057 ^@ NM_001999.3(FBN2):c.1651A>G (p.Asn551Asp) http://identifiers.org/clinvar/383428 ^@ NM_002485.4(NBN):c.21C>G (p.Ala7=) http://identifiers.org/clinvar/387819 ^@ NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) http://identifiers.org/clinvar/378892 ^@ NM_005670.3(EPM2A):c.301+20G>T http://identifiers.org/clinvar/378690 ^@ NM_003165.3(STXBP1):c.1250-19G>A http://identifiers.org/clinvar/385430 ^@ NM_015214.2(DDHD2):c.558G>A (p.Thr186=) http://identifiers.org/clinvar/388019 ^@ NM_007327.3(GRIN1):c.570+10G>A http://identifiers.org/clinvar/384530 ^@ NM_002485.4(NBN):c.1587A>G (p.Lys529=) http://identifiers.org/clinvar/378234 ^@ NM_002485.4(NBN):c.584+9T>C http://identifiers.org/clinvar/392807 ^@ NM_080680.2(COL11A2):c.3142G>A (p.Gly1048Ser) http://identifiers.org/clinvar/387469 ^@ NM_000050.4(ASS1):c.711C>T (p.Asn237=) http://identifiers.org/clinvar/385530 ^@ NM_000136.2(FANCC):c.1155-13G>C http://identifiers.org/clinvar/386030 ^@ NM_001134363.2(RBM20):c.57G>T (p.Pro19=) http://identifiers.org/clinvar/386969 ^@ NM_001130438.2(SPTAN1):c.-4+17G>A http://identifiers.org/clinvar/380884 ^@ NM_002291.2(LAMB1):c.4182C>T (p.Ala1394=) http://identifiers.org/clinvar/135182 ^@ NM_020630.4(RET):c.3116C>A (p.Pro1039Gln) http://identifiers.org/clinvar/185904 ^@ NM_001042492.2(NF1):c.7693A>G (p.Thr2565Ala) http://identifiers.org/clinvar/186154 ^@ NM_007294.3(BRCA1):c.4891A>T (p.Ser1631Cys) http://identifiers.org/clinvar/185304 ^@ NM_007294.3(BRCA1):c.3065C>T (p.Thr1022Ile) http://identifiers.org/clinvar/185004 ^@ NM_007294.3(BRCA1):c.1881C>T (p.Val627=) http://identifiers.org/clinvar/185404 ^@ NM_000546.5(TP53):c.469G>A (p.Val157Ile) http://identifiers.org/clinvar/185804 ^@ NM_000455.4(STK11):c.1020C>T (p.Tyr340=) http://identifiers.org/clinvar/184504 ^@ NM_000455.4(STK11):c.1137C>T (p.His379=) http://identifiers.org/clinvar/185704 ^@ NM_000455.4(STK11):c.1164G>A (p.Lys388=) http://identifiers.org/clinvar/185054 ^@ NM_007194.3(CHEK2):c.*2dupC http://identifiers.org/clinvar/188508 ^@ NM_000249.3(MLH1):c.208_545del http://identifiers.org/clinvar/188558 ^@ NM_000256.3(MYBPC3):c.1897+15G>C http://identifiers.org/clinvar/188658 ^@ NM_004572.3(PKP2):c.1177C>T (p.Gln393Ter) http://identifiers.org/clinvar/188608 ^@ NM_000257.3(MYH7):c.1579-26_1579-25delAG http://identifiers.org/clinvar/188708 ^@ NM_001018005.1(TPM1):c.851T>C (p.Ile284Thr) http://identifiers.org/clinvar/188959 ^@ NM_138694.3(PKHD1):c.3367G>A (p.Gly1123Ser) http://identifiers.org/clinvar/189110 ^@ NM_138694.3(PKHD1):c.2810G>A (p.Trp937Ter) http://identifiers.org/clinvar/189160 ^@ NM_000441.1(SLC26A4):c.1586T>G (p.Ile529Ser) http://identifiers.org/clinvar/188909 ^@ NM_000391.3(TPP1):c.1551+1G>A http://identifiers.org/clinvar/188758 ^@ NM_004004.5(GJB2):c.94C>T (p.Arg32Cys) http://identifiers.org/clinvar/188808 ^@ NM_000053.3(ATP7B):c.3301G>A (p.Gly1101Arg) http://identifiers.org/clinvar/189010 ^@ NM_000382.2(ALDH3A2):c.1100delA (p.Asn367Thrfs) http://identifiers.org/clinvar/188858 ^@ NM_000152.4(GAA):c.1156C>T (p.Gln386Ter) http://identifiers.org/clinvar/189060 ^@ NM_000383.3(AIRE):c.232T>C (p.Trp78Arg) http://identifiers.org/clinvar/189226 ^@ NM_000094.3(COL7A1):c.7557+1G>T http://identifiers.org/clinvar/189278 ^@ NM_014795.3(ZEB2):c.227_233delAAGCTCT (p.Gln76Argfs) http://identifiers.org/clinvar/189337 ^@ NM_000918.3(P4HB):c.1178A>G (p.Tyr393Cys) http://identifiers.org/clinvar/189490 ^@ NM_000314.6(PTEN):c.-942G>A http://identifiers.org/clinvar/189428 ^@ NM_000314.6(PTEN):c.-662_-651delGCAGCGGCGGCG http://identifiers.org/clinvar/189550 ^@ NM_003159.2(CDKL5):c.100-?_145+?del http://identifiers.org/clinvar/189650 ^@ NM_004992.3(MECP2):c.1105_1225del121 (p.His369Alafs) http://identifiers.org/clinvar/189700 ^@ NM_004992.3(MECP2):c.27-96_1205del http://identifiers.org/clinvar/189750 ^@ NM_004992.3(MECP2):c.1153_1188del36 (p.Pro385_Ser396del) http://identifiers.org/clinvar/189600 ^@ NM_003159.2(CDKL5):c.942delA (p.Lys314Asnfs) http://identifiers.org/clinvar/228565 ^@ NM_015404.3(WHRN):c.81_83delCGG (p.Gly29del) http://identifiers.org/clinvar/227334 ^@ NM_014908.3(DOLK):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/228615 ^@ NM_203447.3(DOCK8):c.2017A>T (p.Ile673Phe) http://identifiers.org/clinvar/229315 ^@ NM_138691.2(TMC1):c.1189G>A (p.Asp397Asn) http://identifiers.org/clinvar/227233 ^@ NM_022124.5(CDH23):c.6275C>T (p.Thr2092Ile) http://identifiers.org/clinvar/228765 ^@ NM_000218.2(KCNQ1):c.1202G>A (p.Arg401Gln) http://identifiers.org/clinvar/228865 ^@ NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile) http://identifiers.org/clinvar/227534 ^@ NM_001145308.4(LRTOMT):c.188C>T (p.Thr63Met) http://identifiers.org/clinvar/229115 ^@ NM_173591.3(OTOGL):c.2537C>T (p.Pro846Leu) http://identifiers.org/clinvar/228915 ^@ NM_000257.3(MYH7):c.5191G>A (p.Asp1731Asn) http://identifiers.org/clinvar/227965 ^@ NM_153700.2(STRC):c.3540T>G (p.Leu1180=) http://identifiers.org/clinvar/228965 ^@ NM_016239.3(MYO15A):c.7685C>T (p.Ser2562Phe) http://identifiers.org/clinvar/229065 ^@ NM_001042492.2(NF1):c.8162A>G (p.Gln2721Arg) http://identifiers.org/clinvar/226493 ^@ NM_017950.3(CCDC40):c.2900G>T (p.Arg967Leu) http://identifiers.org/clinvar/229015 ^@ NM_003803.3(MYOM1):c.1235A>G (p.Asp412Gly) http://identifiers.org/clinvar/228815 ^@ NM_144612.6(LOXHD1):c.2035G>A (p.Ala679Thr) http://identifiers.org/clinvar/228315 ^@ NM_144612.6(LOXHD1):c.512-13_512-12delTC http://identifiers.org/clinvar/227384 ^@ NM_133261.2(GIPC3):c.871G>A (p.Ala291Thr) http://identifiers.org/clinvar/228515 ^@ NM_001039213.3(CEACAM16):c.970G>A (p.Val324Met) http://identifiers.org/clinvar/229365 ^@ NM_001039141.2(TRIOBP):c.6196G>A (p.Glu2066Lys) http://identifiers.org/clinvar/229265 ^@ NM_006941.3(SOX10):c.191A>T (p.Asp64Val) http://identifiers.org/clinvar/227484 ^@ NM_002294.2(LAMP2):c.398-7T>C http://identifiers.org/clinvar/226543 ^@ NM_172246.2(CSF2RA):c.1073G>T (p.Arg358Leu) http://identifiers.org/clinvar/228665 ^@ NM_000501.3(ELN):c.34G>A (p.Gly12Arg) http://identifiers.org/clinvar/230656 ^@ NM_000249.3(MLH1):c.1538T>C (p.Ile513Thr) http://identifiers.org/clinvar/231306 ^@ NM_032043.2(BRIP1):c.629C>A (p.Pro210His) http://identifiers.org/clinvar/230406 ^@ NM_001128425.1(MUTYH):c.1555C>A (p.Arg519=) http://identifiers.org/clinvar/230706 ^@ NM_000251.2(MSH2):c.119G>T (p.Gly40Val) http://identifiers.org/clinvar/230906 ^@ NM_000251.2(MSH2):c.1462_1463delTT (p.Leu488Glyfs) http://identifiers.org/clinvar/232696 ^@ NM_000179.2(MSH6):c.859A>T (p.Ser287Cys) http://identifiers.org/clinvar/229906 ^@ NM_000249.3(MLH1):c.2084C>G (p.Ser695Trp) http://identifiers.org/clinvar/230106 ^@ NM_000038.5(APC):c.1175A>G (p.His392Arg) http://identifiers.org/clinvar/264081 ^@ NM_000138.4(FBN1):c.439C>T (p.Gln147Ter) http://identifiers.org/clinvar/263981 ^@ NM_005477.2(HCN4):c.106G>A (p.Gly36Arg) http://identifiers.org/clinvar/263781 ^@ NM_000214.2(JAG1):c.2778C>T (p.Phe926=) http://identifiers.org/clinvar/264348 ^@ NM_003098.2(SNTA1):c.620G>A (p.Arg207Gln) http://identifiers.org/clinvar/264181 ^@ NM_004006.2(DMD):c.7712G>T (p.Arg2571Leu) http://identifiers.org/clinvar/267706 ^@ NM_000059.3(BRCA2):c.8755-?_9256+?del http://identifiers.org/clinvar/267785 ^@ NM_006087.3(TUBB4A):c.1054G>A (p.A352T) http://identifiers.org/clinvar/267836 ^@ 46;XY;t(1;6)(q23;q13)dn http://identifiers.org/clinvar/267886 ^@ 46;XX;inv(5)(p12q13.1)dn http://identifiers.org/clinvar/267936 ^@ 46;XY;t(12;14)(q15;q13)mat http://identifiers.org/clinvar/280146 ^@ NM_004431.4(EPHA2):c.2826-9G>A http://identifiers.org/clinvar/291736 ^@ NM_007375.3(TARDBP):c.239-15G>A http://identifiers.org/clinvar/291886 ^@ NM_013319.2(UBIAD1):c.*904T>C http://identifiers.org/clinvar/291986 ^@ NM_002506.2(NGF):c.*120T>G http://identifiers.org/clinvar/291686 ^@ NM_004565.2(PEX14):c.*564C>T http://identifiers.org/clinvar/292186 ^@ NM_005957.4(MTHFR):c.*2805A>G http://identifiers.org/clinvar/292236 ^@ NM_005957.4(MTHFR):c.1378C>T (p.Leu460=) http://identifiers.org/clinvar/291786 ^@ NM_006610.3(MASP2):c.1111G>T (p.Asp371Tyr) http://identifiers.org/clinvar/291936 ^@ NM_000036.2(AMPD1):c.294C>T (p.Ser98=) http://identifiers.org/clinvar/292386 ^@ NM_014874.3(MFN2):c.*297T>A http://identifiers.org/clinvar/291836 ^@ NM_003051.3(SLC16A1):c.*1072G>T http://identifiers.org/clinvar/292536 ^@ NM_019032.5(ADAMTSL4):c.1750-10_1750-6delTTCTC http://identifiers.org/clinvar/292636 ^@ NM_152263.3(TPM3):c.*4968A>G http://identifiers.org/clinvar/292686 ^@ NM_152263.3(TPM3):c.*489T>G http://identifiers.org/clinvar/292136 ^@ NM_001232.3(CASQ2):c.-208_-205dupTGTG http://identifiers.org/clinvar/292486 ^@ NM_005850.4(SF3B4):c.-78T>C http://identifiers.org/clinvar/292886 ^@ NM_001012331.1(NTRK1):c.1313G>A (p.Arg438Gln) http://identifiers.org/clinvar/293036 ^@ NM_003126.2(SPTA1):c.1573T>C (p.Phe525Leu) http://identifiers.org/clinvar/292286 ^@ NM_000302.3(PLOD1):c.579+10A>G http://identifiers.org/clinvar/292336 ^@ NM_005518.3(HMGCS2):c.621C>T (p.Pro207=) http://identifiers.org/clinvar/292436 ^@ NM_005266.6(GJA5):c.*1396G>A http://identifiers.org/clinvar/293336 ^@ NM_003001.3(SDHC):c.*863G>A http://identifiers.org/clinvar/293086 ^@ NM_002241.4(KCNJ10):c.*2479G>A http://identifiers.org/clinvar/293386 ^@ NM_006182.2(DDR2):c.*173_*174delAC http://identifiers.org/clinvar/293486 ^@ NM_005149.2(TBX19):c.*251T>C http://identifiers.org/clinvar/292586 ^@ NM_000396.3(CTSK):c.244-10_244-8delTTT http://identifiers.org/clinvar/293186 ^@ NM_000702.3(ATP1A2):c.*2065G>A http://identifiers.org/clinvar/293436 ^@ NM_004431.4(EPHA2):c.1170C>T (p.His390=) http://identifiers.org/clinvar/292736 ^@ NM_001111.4(ADAR):c.*825G>A http://identifiers.org/clinvar/292836 ^@ NM_005572.3(LMNA):c.514-11C>T http://identifiers.org/clinvar/292786 ^@ NM_001111.4(ADAR):c.224T>G (p.Phe75Cys) http://identifiers.org/clinvar/293636 ^@ NM_000130.4(F5):c.738A>G (p.Thr246=) http://identifiers.org/clinvar/293686 ^@ NM_006894.5(FMO3):c.225C>T (p.Pro75=) http://identifiers.org/clinvar/292936 ^@ NM_003126.2(SPTA1):c.7104G>T (p.Lys2368Asn) http://identifiers.org/clinvar/292986 ^@ NM_003126.2(SPTA1):c.4302G>A (p.Lys1434=) http://identifiers.org/clinvar/293136 ^@ NM_000702.3(ATP1A2):c.*25T>C http://identifiers.org/clinvar/294325 ^@ NM_031935.2(HMCN1):c.*775_*778delGTTT http://identifiers.org/clinvar/294375 ^@ NM_003748.3(ALDH4A1):c.1230A>G (p.Ser410=) http://identifiers.org/clinvar/294425 ^@ NM_024529.4(CDC73):c.*1074A>T http://identifiers.org/clinvar/294525 ^@ NM_000186.3(CFH):c.3427C>G (p.Gln1143Glu) http://identifiers.org/clinvar/293536 ^@ NM_006996.2(SLC19A2):c.-12C>G http://identifiers.org/clinvar/294575 ^@ NM_001994.2(F13B):c.1285T>C (p.Tyr429His) http://identifiers.org/clinvar/293586 ^@ NM_000130.4(F5):c.5332G>C (p.Glu1778Gln) http://identifiers.org/clinvar/294825 ^@ NM_001005337.2(PKP1):c.1585C>T (p.Arg529Cys) http://identifiers.org/clinvar/295025 ^@ NM_032409.2(PINK1):c.*571delC http://identifiers.org/clinvar/294925 ^@ NM_003465.2(CHIT1):c.605+10A>T http://identifiers.org/clinvar/344167 ^@ NM_000340.1(SLC2A2):c.580C>G (p.Leu194Val) http://identifiers.org/clinvar/344217 ^@ NM_031955.5(SPATA16):c.576C>T (p.Tyr192=) http://identifiers.org/clinvar/344267 ^@ NM_181426.1(CCDC39):c.1363-13dupT http://identifiers.org/clinvar/343517 ^@ NM_024334.2(TMEM43):c.*342C>T http://identifiers.org/clinvar/343617 ^@ NM_001184.3(ATR):c.1885+7G>A http://identifiers.org/clinvar/343817 ^@ NM_174878.2(CLRN1):c.473A>G (p.Glu158Gly) http://identifiers.org/clinvar/344317 ^@ NM_020166.4(MCCC1):c.-23C>T http://identifiers.org/clinvar/344367 ^@ NM_000460.3(THPO):c.*404G>A http://identifiers.org/clinvar/344717 ^@ NM_003242.5(TGFBR2):c.*2340T>C http://identifiers.org/clinvar/346206 ^@ NM_003392.4(WNT5A):c.*4179dupT http://identifiers.org/clinvar/346256 ^@ NM_003392.4(WNT5A):c.*1276T>C http://identifiers.org/clinvar/346356 ^@ NM_001457.3(FLNB):c.6438G>A (p.Val2146=) http://identifiers.org/clinvar/346456 ^@ NM_198859.3(PRICKLE2):c.*1476A>G http://identifiers.org/clinvar/346606 ^@ NM_032682.5(FOXP1):c.*1231_*1235dupTGTTT http://identifiers.org/clinvar/346706 ^@ NM_002942.4(ROBO2):c.3472C>T (p.Arg1158Trp) http://identifiers.org/clinvar/346906 ^@ NM_182896.2(ARL13B):c.-50C>A http://identifiers.org/clinvar/345756 ^@ NM_002222.5(ITPR1):c.6350G>A (p.Ser2117Asn) http://identifiers.org/clinvar/345806 ^@ NM_000094.3(COL7A1):c.7581G>A (p.Gly2527=) http://identifiers.org/clinvar/345856 ^@ NM_000094.3(COL7A1):c.3760-10C>G http://identifiers.org/clinvar/346006 ^@ NM_002292.3(LAMB2):c.991C>T (p.Leu331=) http://identifiers.org/clinvar/346056 ^@ NM_144499.2(GNAT1):c.*5C>T http://identifiers.org/clinvar/343017 ^@ NM_000373.3(UMPS):c.*4016T>C http://identifiers.org/clinvar/343067 ^@ NM_025265.3(TSEN2):c.-18+10G>A http://identifiers.org/clinvar/347695 ^@ NM_000901.4(NR3C2):c.*1410A>G http://identifiers.org/clinvar/343217 ^@ NM_000174.4(GP9):c.-39G>A http://identifiers.org/clinvar/347745 ^@ NM_000901.4(NR3C2):c.-249C>T http://identifiers.org/clinvar/346406 ^@ NM_000925.3(PDHB):c.701-3C>T http://identifiers.org/clinvar/343317 ^@ NM_014382.3(ATP2C1):c.6+15C>G http://identifiers.org/clinvar/343167 ^@ NM_004637.5(RAB7A):c.*189A>G http://identifiers.org/clinvar/343367 ^@ NM_153240.4(NPHP3):c.*650_*651delAA http://identifiers.org/clinvar/347895 ^@ NM_001080522.2(CC2D2A):c.3365C>G (p.Pro1122Arg) http://identifiers.org/clinvar/343467 ^@ NM_000532.4(PCCB):c.595C>T (p.Pro199Ser) http://identifiers.org/clinvar/347945 ^@ NM_000824.4(GLRB):c.*996delT http://identifiers.org/clinvar/343267 ^@ NM_052985.3(IFT122):c.3456G>T (p.Gly1152=) http://identifiers.org/clinvar/343567 ^@ NM_004628.4(XPC):c.1984G>A (p.Glu662Lys) http://identifiers.org/clinvar/348195 ^@ NM_000860.5(HPGD):c.*132G>A http://identifiers.org/clinvar/343667 ^@ NM_031850.3(AGTR1):c.257T>C (p.Ile86Thr) http://identifiers.org/clinvar/348145 ^@ NM_000320.2(QDPR):c.*403A>G http://identifiers.org/clinvar/343717 ^@ NM_032383.4(HPS3):c.*96_*97insATCACA http://identifiers.org/clinvar/346756 ^@ NM_002942.4(ROBO2):c.*2819T>G http://identifiers.org/clinvar/346806 ^@ NM_014043.3(CHMP2B):c.218C>T (p.Thr73Met) http://identifiers.org/clinvar/343867 ^@ NM_004733.3(SLC33A1):c.*510A>T http://identifiers.org/clinvar/346956 ^@ NM_000097.5(CPOX):c.*679G>A http://identifiers.org/clinvar/343967 ^@ NM_020800.2(IFT80):c.1678A>G (p.Asn560Asp) http://identifiers.org/clinvar/353983 ^@ NM_001104631.1(PDE4D):c.*33dupT http://identifiers.org/clinvar/354233 ^@ NM_003664.4(AP3B1):c.2012C>T (p.Ser671Phe) http://identifiers.org/clinvar/354183 ^@ NM_003719.3(PDE8B):c.*296dupT http://identifiers.org/clinvar/358762 ^@ NM_012338.3(TSPAN12):c.367G>C (p.Val123Leu) http://identifiers.org/clinvar/358812 ^@ NM_006193.2(PAX4):c.-193G>A http://identifiers.org/clinvar/354583 ^@ NM_002397.4(MEF2C):c.*31_*32delTT http://identifiers.org/clinvar/354433 ^@ NM_004385.4(VCAN):c.6169A>C (p.Arg2057=) http://identifiers.org/clinvar/359012 ^@ NM_020632.2(ATP6V0A4):c.1908+10C>A http://identifiers.org/clinvar/354733 ^@ NM_001491.2(GCNT2):c.*1956C>G http://identifiers.org/clinvar/354683 ^@ NM_005068.2(SIM1):c.804T>G (p.His268Gln) http://identifiers.org/clinvar/359262 ^@ NM_014141.5(CNTNAP2):c.*3999delT http://identifiers.org/clinvar/359312 ^@ NM_000238.3(KCNH2):c.961G>T (p.Asp321Tyr) http://identifiers.org/clinvar/359512 ^@ NM_001101426.3(ISPD):c.*2566A>G http://identifiers.org/clinvar/354933 ^@ NM_014028.3(OSTM1):c.*2755A>G http://identifiers.org/clinvar/355083 ^@ NM_000493.3(COL10A1):c.*315A>T http://identifiers.org/clinvar/364260 ^@ NM_001701.3(BAAT):c.*1139T>G http://identifiers.org/clinvar/355773 ^@ NM_203395.2(IYD):c.*5430C>T http://identifiers.org/clinvar/355823 ^@ NM_033071.3(SYNE1):c.22833A>G (p.Ile7611Met) http://identifiers.org/clinvar/355873 ^@ NM_033071.3(SYNE1):c.13639C>A (p.Leu4547Ile) http://identifiers.org/clinvar/355673 ^@ NM_203395.2(IYD):c.32T>C (p.Ile11Thr) http://identifiers.org/clinvar/364560 ^@ NM_003640.4(IKBKAP):c.3346+6G>C http://identifiers.org/clinvar/360451 ^@ NM_005228.4(EGFR):c.-21C>A http://identifiers.org/clinvar/356073 ^@ NM_198586.2(NHLRC1):c.*276G>C http://identifiers.org/clinvar/364760 ^@ NM_018249.5(CDK5RAP2):c.3002C>T (p.Thr1001Met) http://identifiers.org/clinvar/364910 ^@ NM_002316.3(LMX1B):c.*640_*643delCACA http://identifiers.org/clinvar/355923 ^@ NM_033071.3(SYNE1):c.4929C>T (p.Tyr1643=) http://identifiers.org/clinvar/356223 ^@ NM_000434.3(NEU1):c.*596G>T http://identifiers.org/clinvar/356273 ^@ NM_001710.5(CFB):c.504G>A (p.Pro168=) http://identifiers.org/clinvar/356323 ^@ NM_006929.4(SKIV2L):c.1041C>T (p.Ala347=) http://identifiers.org/clinvar/356423 ^@ NM_001014.4(RPS10):c.6G>A (p.Leu2=) http://identifiers.org/clinvar/356123 ^@ NM_000367.4(TPMT):c.-45+11T>C http://identifiers.org/clinvar/356173 ^@ NM_001080.3(ALDH5A1):c.*1531A>G http://identifiers.org/clinvar/356473 ^@ NM_003322.5(TULP1):c.254A>G (p.Gln85Arg) http://identifiers.org/clinvar/365260 ^@ NM_054012.3(ASS1):c.929A>G (p.Lys310Arg) http://identifiers.org/clinvar/365360 ^@ NM_015046.5(SETX):c.3200C>T (p.Thr1067Ile) http://identifiers.org/clinvar/356373 ^@ NM_080680.2(COL11A2):c.*822C>G http://identifiers.org/clinvar/356523 ^@ NM_182548.3(LHFPL5):c.*508_*513dupACACAC http://identifiers.org/clinvar/365610 ^@ NM_014694.3(ADAMTSL2):c.2592+13C>T http://identifiers.org/clinvar/356573 ^@ NM_001145717.1(PNPLA1):c.1062T>G (p.Pro354=) http://identifiers.org/clinvar/356823 ^@ NM_014780.4(CUL7):c.4443G>A (p.Ala1481=) http://identifiers.org/clinvar/356923 ^@ NM_006502.2(POLH):c.*693C>T http://identifiers.org/clinvar/357023 ^@ NM_020745.3(AARS2):c.*1719T>C http://identifiers.org/clinvar/357123 ^@ NM_001024630.3(RUNX2):c.*2274C>T http://identifiers.org/clinvar/357073 ^@ NM_020745.3(AARS2):c.1084A>T (p.Met362Leu) http://identifiers.org/clinvar/366250 ^@ NM_003070.4(SMARCA2):c.4499A>C (p.Lys1500Thr) http://identifiers.org/clinvar/366650 ^@ NM_001497.3(B4GALT1):c.*219C>A http://identifiers.org/clinvar/303152 ^@ NM_018400.3(SCN3B):c.*2462G>A http://identifiers.org/clinvar/311290 ^@ NM_021954.3(GJA3):c.*2923A>G http://identifiers.org/clinvar/303352 ^@ NM_145014.2(HYLS1):c.-122_-120dupTTT http://identifiers.org/clinvar/303402 ^@ NM_016952.4(CDON):c.*2717C>T http://identifiers.org/clinvar/367379 ^@ NM_033305.2(VPS13A):c.3961-6dupT http://identifiers.org/clinvar/311540 ^@ NM_014363.5(SACS):c.5302C>T (p.His1768Tyr) http://identifiers.org/clinvar/303452 ^@ NM_016952.4(CDON):c.*1803C>T http://identifiers.org/clinvar/367479 ^@ NM_004560.3(ROR2):c.*1016T>G http://identifiers.org/clinvar/367529 ^@ NM_006415.3(SPTLC1):c.*1154T>C http://identifiers.org/clinvar/311790 ^@ NM_000538.3(RFXAP):c.666A>G (p.Ala222=) http://identifiers.org/clinvar/311890 ^@ NM_001127217.2(SMAD9):c.*118C>T http://identifiers.org/clinvar/367150 ^@ NM_004972.3(JAK2):c.*1185A>C http://identifiers.org/clinvar/311940 ^@ NM_207361.5(FREM2):c.699C>T (p.Leu233=) http://identifiers.org/clinvar/312040 ^@ NM_207361.5(FREM2):c.9357G>C (p.Thr3119=) http://identifiers.org/clinvar/367300 ^@ NM_017662.4(TRPM6):c.4764T>C (p.Asn1588=) http://identifiers.org/clinvar/367329 ^@ NM_017662.4(TRPM6):c.766G>A (p.Val256Met) http://identifiers.org/clinvar/304002 ^@ NM_004211.4(SLC6A5):c.304G>A (p.Gly102Ser) http://identifiers.org/clinvar/304052 ^@ NM_000207.2(INS):c.*2C>T http://identifiers.org/clinvar/367429 ^@ NM_033305.2(VPS13A):c.9150G>A (p.Pro3050=) http://identifiers.org/clinvar/304152 ^@ NM_213599.2(ANO5):c.*2568T>A http://identifiers.org/clinvar/367579 ^@ NM_000136.2(FANCC):c.*1895T>C http://identifiers.org/clinvar/367679 ^@ NM_000197.1(HSD17B3):c.880C>T (p.Leu294=) http://identifiers.org/clinvar/298953 ^@ NM_004281.3(BAG3):c.-95G>A http://identifiers.org/clinvar/299303 ^@ NM_001033855.2(DCLRE1C):c.*314G>A http://identifiers.org/clinvar/299403 ^@ NM_001081.3(CUBN):c.8412T>C (p.Gly2804=) http://identifiers.org/clinvar/304891 ^@ NM_002334.3(LRP4):c.968G>A (p.Arg323His) http://identifiers.org/clinvar/299003 ^@ NM_000141.4(FGFR2):c.1239G>A (p.Pro413=) http://identifiers.org/clinvar/299453 ^@ NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) http://identifiers.org/clinvar/305143 ^@ NM_002032.2(FTH1):c.387+12A>G http://identifiers.org/clinvar/299153 ^@ NM_001609.3(ACADSB):c.*3907C>G http://identifiers.org/clinvar/299653 ^@ NM_017433.4(MYO3A):c.1276-5T>C http://identifiers.org/clinvar/299253 ^@ NM_006214.3(PHYH):c.574G>A (p.Ala192Thr) http://identifiers.org/clinvar/300003 ^@ NM_000124.3(ERCC6):c.*2137A>G http://identifiers.org/clinvar/300053 ^@ NM_000124.3(ERCC6):c.3186T>C (p.Ser1062=) http://identifiers.org/clinvar/300103 ^@ NM_000124.3(ERCC6):c.-107A>G http://identifiers.org/clinvar/305643 ^@ NM_145200.3(CABP4):c.281G>A (p.Arg94His) http://identifiers.org/clinvar/300153 ^@ NM_033056.3(PCDH15):c.*558T>A http://identifiers.org/clinvar/305893 ^@ NM_012309.4(SHANK2):c.912+5660T>C http://identifiers.org/clinvar/305943 ^@ NM_001360.2(DHCR7):c.*438G>A http://identifiers.org/clinvar/315089 ^@ NM_177438.2(DICER1):c.*873G>A http://identifiers.org/clinvar/306043 ^@ NM_005472.4(KCNE3):c.*1484G>T http://identifiers.org/clinvar/315389 ^@ NM_144599.4(NIPA1):c.*1981A>G http://identifiers.org/clinvar/299903 ^@ NM_020975.4(RET):c.*95C>T http://identifiers.org/clinvar/315539 ^@ NM_002420.5(TRPM1):c.9C>T (p.Asp3=) http://identifiers.org/clinvar/306306 ^@ NM_020376.3(PNPLA2):c.1181C>A (p.Pro394Gln) http://identifiers.org/clinvar/306407 ^@ NM_012193.3(FZD4):c.502C>T (p.Pro168Ser) http://identifiers.org/clinvar/329251 ^@ NM_181882.2(PRX):c.3868G>A (p.Glu1290Lys) http://identifiers.org/clinvar/329301 ^@ NM_003573.2(LTBP4):c.310C>G (p.Pro104Ala) http://identifiers.org/clinvar/315189 ^@ NM_139057.3(ADAMTS17):c.*1315C>T http://identifiers.org/clinvar/329401 ^@ NM_152296.4(ATP1A3):c.2838C>T (p.Phe946=) http://identifiers.org/clinvar/329551 ^@ NM_025136.3(OPA3):c.*7181G>A http://identifiers.org/clinvar/318080 ^@ NM_001143979.1(NDE1):c.947+6655_947+6656delGT http://identifiers.org/clinvar/329701 ^@ NM_000554.5(CRX):c.*19C>T http://identifiers.org/clinvar/311640 ^@ NM_015972.3(POLR1D):c.-154C>G http://identifiers.org/clinvar/311840 ^@ NM_001127217.2(SMAD9):c.*2418C>T http://identifiers.org/clinvar/330251 ^@ NM_006087.3(TUBB4A):c.*493C>G http://identifiers.org/clinvar/330351 ^@ NM_000208.3(INSR):c.*4374G>A http://identifiers.org/clinvar/310535 ^@ NM_018979.3(WNK1):c.-25C>G http://identifiers.org/clinvar/311990 ^@ NM_207361.5(FREM2):c.5282A>G (p.Tyr1761Cys) http://identifiers.org/clinvar/330401 ^@ NM_000208.3(INSR):c.*1799C>T http://identifiers.org/clinvar/330501 ^@ NM_020533.2(MCOLN1):c.1237-12G>A http://identifiers.org/clinvar/312090 ^@ NM_207361.5(FREM2):c.*4673C>T http://identifiers.org/clinvar/312140 ^@ NM_020751.2(COG6):c.1066C>T (p.Pro356Ser) http://identifiers.org/clinvar/319320 ^@ NM_014321.3(ORC6):c.*611_*630dup20 http://identifiers.org/clinvar/319370 ^@ NM_000293.2(PHKB):c.*345C>T http://identifiers.org/clinvar/311140 ^@ NM_001846.3(COL4A2):c.1979-6C>T http://identifiers.org/clinvar/319671 ^@ NM_015272.4(RPGRIP1L):c.-7-10T>C http://identifiers.org/clinvar/319821 ^@ NM_001043.3(SLC6A2):c.*415dupA http://identifiers.org/clinvar/319921 ^@ NM_000339.2(SLC12A3):c.2991G>A (p.Ser997=) http://identifiers.org/clinvar/311440 ^@ NM_002010.2(FGF9):c.*355C>G http://identifiers.org/clinvar/338587 ^@ NM_030777.3(SLC2A10):c.-60G>T http://identifiers.org/clinvar/320071 ^@ NM_001297.4(CNGB1):c.2850C>T (p.Ile950=) http://identifiers.org/clinvar/338637 ^@ NM_030777.3(SLC2A10):c.*2416_*2418delCAA http://identifiers.org/clinvar/338737 ^@ NM_006420.2(ARFGEF2):c.*2591G>A http://identifiers.org/clinvar/311590 ^@ NM_018451.4(CENPJ):c.*594_*595dupAT http://identifiers.org/clinvar/338838 ^@ NM_000782.4(CYP24A1):c.101C>T (p.Thr34Met) http://identifiers.org/clinvar/311690 ^@ NM_004795.3(KL):c.1054T>G (p.Phe352Val) http://identifiers.org/clinvar/311740 ^@ NM_015087.4(SPG20):c.*2204C>T http://identifiers.org/clinvar/339088 ^@ NM_001001433.2(STX16):c.*2016G>T http://identifiers.org/clinvar/339238 ^@ NM_017671.4(FERMT1):c.-93C>G http://identifiers.org/clinvar/339338 ^@ NM_172107.3(KCNQ2):c.185C>G (p.Ala62Gly) http://identifiers.org/clinvar/339438 ^@ NM_025219.2(DNAJC5):c.*4065G>A http://identifiers.org/clinvar/312190 ^@ NM_014252.3(SLC25A15):c.*579C>T http://identifiers.org/clinvar/321160 ^@ NM_000485.2(APRT):c.*83G>A http://identifiers.org/clinvar/312290 ^@ NM_000321.2(RB1):c.1696-4A>G http://identifiers.org/clinvar/321460 ^@ NM_000833.4(GRIN2A):c.*9517T>C http://identifiers.org/clinvar/312340 ^@ NM_000053.3(ATP7B):c.*1901G>A http://identifiers.org/clinvar/342128 ^@ NM_005138.2(SCO2):c.4C>G (p.Leu2Val) http://identifiers.org/clinvar/328312 ^@ NM_006563.4(KLF1):c.*22T>A http://identifiers.org/clinvar/342228 ^@ NM_000487.5(ARSA):c.*332C>T http://identifiers.org/clinvar/328512 ^@ NM_000215.3(JAK3):c.1678G>T (p.Ala560Ser) http://identifiers.org/clinvar/367779 ^@ NM_002294.2(LAMP2):c.*653A>G http://identifiers.org/clinvar/367829 ^@ NM_001167.3(XIAP):c.*4015A>G http://identifiers.org/clinvar/368279 ^@ NM_022567.2(NYX):c.*734_*735dupAA http://identifiers.org/clinvar/327362 ^@ NM_000140.3(FECH):c.*3339G>A http://identifiers.org/clinvar/329351 ^@ NM_030578.3(B9D2):c.-127G>A http://identifiers.org/clinvar/327662 ^@ NM_133459.3(CCBE1):c.*1942T>C http://identifiers.org/clinvar/329601 ^@ NM_025136.3(OPA3):c.*4712delA http://identifiers.org/clinvar/327912 ^@ NM_001130823.2(DNMT1):c.1224C>T (p.Asn408=) http://identifiers.org/clinvar/329801 ^@ NM_002103.4(GYS1):c.*301G>A http://identifiers.org/clinvar/327962 ^@ NM_003331.4(TYK2):c.44T>C (p.Val15Ala) http://identifiers.org/clinvar/329951 ^@ NM_024729.3(MYH14):c.5735G>A (p.Arg1912Gln) http://identifiers.org/clinvar/330151 ^@ NM_024075.4(TSEN34):c.*1163C>G http://identifiers.org/clinvar/330551 ^@ NM_006949.3(STXBP2):c.808G>A (p.Gly270Arg) http://identifiers.org/clinvar/329201 ^@ NM_033064.4(ATCAY):c.*3154C>T http://identifiers.org/clinvar/329451 ^@ NM_000483.4(APOC2):c.-62T>G http://identifiers.org/clinvar/329501 ^@ NM_000400.3(ERCC2):c.2260G>C (p.Glu754Gln) http://identifiers.org/clinvar/338788 ^@ NM_020436.4(SALL4):c.110C>G (p.Ala37Gly) http://identifiers.org/clinvar/329751 ^@ NM_000554.5(CRX):c.*2017C>T http://identifiers.org/clinvar/338888 ^@ NM_002591.3(PCK1):c.1102G>A (p.Val368Ile) http://identifiers.org/clinvar/338988 ^@ NM_004738.4(VAPB):c.*4240G>C http://identifiers.org/clinvar/329901 ^@ NM_024729.3(MYH14):c.-4+8C>A http://identifiers.org/clinvar/330051 ^@ NM_144687.3(NLRP12):c.-107G>A http://identifiers.org/clinvar/330201 ^@ NM_000363.4(TNNI3):c.-85A>C http://identifiers.org/clinvar/330301 ^@ NM_000064.3(C3):c.2715C>T (p.Thr905=) http://identifiers.org/clinvar/330451 ^@ NM_000208.3(INSR):c.2718T>C (p.Ala906=) http://identifiers.org/clinvar/338487 ^@ NM_000457.4(HNF4A):c.*2779A>C http://identifiers.org/clinvar/338537 ^@ NM_000308.3(CTSA):c.1113G>A (p.Pro371=) http://identifiers.org/clinvar/338687 ^@ NM_006420.2(ARFGEF2):c.1425+11C>T http://identifiers.org/clinvar/340928 ^@ NM_016327.2(UPB1):c.26T>C (p.Leu9Pro) http://identifiers.org/clinvar/340978 ^@ NM_152841.2(HPS4):c.*1223_*1238del16 http://identifiers.org/clinvar/341928 ^@ NM_025225.2(PNPLA3):c.295T>G (p.Cys99Gly) http://identifiers.org/clinvar/341978 ^@ NM_006953.3(UPK3A):c.465C>T (p.Pro155=) http://identifiers.org/clinvar/389658 ^@ NM_017617.4(NOTCH1):c.1953C>T (p.Asp651=) http://identifiers.org/clinvar/385580 ^@ NM_001080449.2(DNA2):c.720G>T (p.Leu240=) http://identifiers.org/clinvar/392957 ^@ NM_001003800.1(BICD2):c.1250A>G (p.Asp417Gly) http://identifiers.org/clinvar/380733 ^@ NM_014000.2(VCL):c.2748G>A (p.Pro916=) http://identifiers.org/clinvar/385130 ^@ NM_001204824.1(KCNQ3):c.1440-10T>C http://identifiers.org/clinvar/387619 ^@ NM_000051.3(ATM):c.4611+18C>T http://identifiers.org/clinvar/378992 ^@ NM_000051.3(ATM):c.6774C>T (p.Leu2258=) http://identifiers.org/clinvar/387269 ^@ NM_001278503.1(STT3A):c.-124+17A>G http://identifiers.org/clinvar/379242 ^@ NM_000424.3(KRT5):c.472G>T (p.Asp158Tyr) http://identifiers.org/clinvar/378590 ^@ NM_024698.5(SLC25A22):c.51C>T (p.Ile17=) http://identifiers.org/clinvar/385730 ^@ NM_006231.3(POLE):c.6748-11T>A http://identifiers.org/clinvar/381035 ^@ NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) http://identifiers.org/clinvar/379943 ^@ NM_032374.4(APOPT1):c.150G>A (p.Thr50=) http://identifiers.org/clinvar/385780 ^@ NM_006231.3(POLE):c.4269C>T (p.Ile1423=) http://identifiers.org/clinvar/385280 ^@ NM_032634.3(PIGO):c.1662G>A (p.Leu554=) http://identifiers.org/clinvar/379142 ^@ NM_004572.3(PKP2):c.-7C>T http://identifiers.org/clinvar/392907 ^@ NM_001844.4(COL2A1):c.1680+1G>C http://identifiers.org/clinvar/379742 ^@ NM_003482.3(KMT2D):c.5319+1G>T http://identifiers.org/clinvar/379042 ^@ NM_000719.6(CACNA1C):c.4232+16C>A http://identifiers.org/clinvar/385080 ^@ NM_001759.3(CCND2):c.571+20G>A http://identifiers.org/clinvar/392657 ^@ NM_014191.3(SCN8A):c.3710A>G (p.Lys1237Arg) http://identifiers.org/clinvar/385680 ^@ NM_025114.3(CEP290):c.2217+6A>G http://identifiers.org/clinvar/384379 ^@ NM_020751.2(COG6):c.153+19G>A http://identifiers.org/clinvar/384680 ^@ NM_020778.4(ALPK3):c.194A>G (p.His65Arg) http://identifiers.org/clinvar/389758 ^@ NM_020778.4(ALPK3):c.4473C>T (p.Ser1491=) http://identifiers.org/clinvar/381936 ^@ NM_000059.3(BRCA2):c.10152A>G (p.Arg3384=) http://identifiers.org/clinvar/384129 ^@ NM_015346.3(ZFYVE26):c.6299A>G (p.Asn2100Ser) http://identifiers.org/clinvar/381385 ^@ NM_006493.2(CLN5):c.712+20C>G http://identifiers.org/clinvar/381635 ^@ NM_001171.5(ABCC6):c.754C>T (p.Leu252Phe) http://identifiers.org/clinvar/381185 ^@ NM_001013703.3(EIF2AK4):c.4562-8G>T http://identifiers.org/clinvar/381335 ^@ NM_000256.3(MYBPC3):c.1927+16C>G http://identifiers.org/clinvar/379842 ^@ NM_000548.4(TSC2):c.3099C>T (p.Tyr1033=) http://identifiers.org/clinvar/379092 ^@ NM_000256.3(MYBPC3):c.1352-10G>T http://identifiers.org/clinvar/387569 ^@ NM_001101362.2(KBTBD13):c.429T>C (p.Pro143=) http://identifiers.org/clinvar/379792 ^@ NM_024675.3(PALB2):c.1448C>G (p.Ser483Ter) http://identifiers.org/clinvar/378842 ^@ NM_130838.1(UBE3A):c.-33012G>C http://identifiers.org/clinvar/387319 ^@ NM_001605.2(AARS):c.1244A>G (p.Tyr415Cys) http://identifiers.org/clinvar/381435 ^@ NM_012213.2(MLYCD):c.799-16C>T http://identifiers.org/clinvar/386769 ^@ NM_002474.2(MYH11):c.5053T>C (p.Leu1685=) http://identifiers.org/clinvar/384229 ^@ NM_000303.2(PMM2):c.*2G>A http://identifiers.org/clinvar/386719 ^@ NM_000126.3(ETFA):c.-24G>T http://identifiers.org/clinvar/48086 ^@ NM_170707.3(LMNA):c.811-13T>A http://identifiers.org/clinvar/48136 ^@ NM_173477.4(USH1G):c.705G>A (p.Glu235=) http://identifiers.org/clinvar/48186 ^@ NM_194248.2(OTOF):c.2123G>A (p.Arg708Gln) http://identifiers.org/clinvar/48236 ^@ NM_194248.2(OTOF):c.446C>T (p.Thr149Met) http://identifiers.org/clinvar/48286 ^@ NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) http://identifiers.org/clinvar/48337 ^@ NM_198999.2(SLC26A5):c.1813A>G (p.Thr605Ala) http://identifiers.org/clinvar/48387 ^@ NM_206933.2(USH2A):c.11946G>A (p.Leu3982=) http://identifiers.org/clinvar/43 ^@ NM_001083961.1(WDR62):c.1408C>T (p.Gln470Ter) http://identifiers.org/clinvar/127 ^@ NM_000071.2(CBS):c.502G>A (p.Val168Met) http://identifiers.org/clinvar/136 ^@ NM_001128228.2(TPRN):c.227_237dupGGGCGCGGCTG (p.Leu80Glyfs) http://identifiers.org/clinvar/223 ^@ NM_000027.3(AGA):c.302C>T (p.Ala101Val) http://identifiers.org/clinvar/356 ^@ NM_000267.3(NF1):c.1260+1G>A http://identifiers.org/clinvar/384 ^@ NM_001127695.1(CTSA):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/690 ^@ FUCA1, 1-BP DEL, EX3 http://identifiers.org/clinvar/790 ^@ NM_014165.3(NDUFAF4):c.194T>C (p.Leu65Pro) http://identifiers.org/clinvar/927 ^@ NM_000404.2(GLB1):c.1069_1233dup http://identifiers.org/clinvar/955 ^@ NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) http://identifiers.org/clinvar/1059 ^@ NM_018122.4(DARS2):c.787C>T (p.Arg263Ter) http://identifiers.org/clinvar/1174 ^@ NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) http://identifiers.org/clinvar/1219 ^@ NM_022089.3(ATP13A2):c.1306+5G>A http://identifiers.org/clinvar/1314 ^@ NM_001174089.1(SLC4A11):c.1415G>A (p.Arg472Lys) http://identifiers.org/clinvar/1405 ^@ NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter) http://identifiers.org/clinvar/1450 ^@ NM_000190.3(HMBS):c.734T>G (p.Leu245Arg) http://identifiers.org/clinvar/1496 ^@ TRIOBP, 2-BP DEL, 3202CG http://identifiers.org/clinvar/1541 ^@ NM_000237.2(LPL):c.272G>A (p.Trp91Ter) http://identifiers.org/clinvar/1587 ^@ NM_001127255.1(NLRP7):c.2078G>C (p.Arg693Pro) http://identifiers.org/clinvar/1636 ^@ NM_000382.2(ALDH3A2):c.521delT (p.Leu174Argfs) http://identifiers.org/clinvar/1681 ^@ NM_005908.3(MANBA):c.247G>T (p.Glu83Ter) http://identifiers.org/clinvar/1727 ^@ FIG4, IVS11DS, G-T, +5 http://identifiers.org/clinvar/1778 ^@ NM_000102.3(CYP17A1):c.157_159delTTC (p.Phe54del) http://identifiers.org/clinvar/1822 ^@ NM_198996.3(LIPI):c.227G>A (p.Cys76Tyr) http://identifiers.org/clinvar/1868 ^@ PDCD10, 4-BP DEL http://identifiers.org/clinvar/1912 ^@ NM_000411.6(HLCS):c.1519+5G>A http://identifiers.org/clinvar/1958 ^@ NM_000022.3(ADA):c.911T>G (p.Leu304Arg) http://identifiers.org/clinvar/2001 ^@ NM_199242.2(UNC13D):c.753+1G>T http://identifiers.org/clinvar/2047 ^@ NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs) http://identifiers.org/clinvar/2092 ^@ DFNA5, IVS7AS, C-G, -6 http://identifiers.org/clinvar/2138 ^@ FIGLA, 3-BP DEL, 419ACA http://identifiers.org/clinvar/2185 ^@ NM_022370.3(ROBO3):c.2317C>T (p.Gln773Ter) http://identifiers.org/clinvar/2457 ^@ NM_000434.3(NEU1):c.893C>T (p.Ala298Val) http://identifiers.org/clinvar/2502 ^@ EXT1, 1-BP INS, 1664A http://identifiers.org/clinvar/2550 ^@ NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) http://identifiers.org/clinvar/2597 ^@ ETFA, IVS11DS, 1-BP DEL, +1G http://identifiers.org/clinvar/2642 ^@ NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) http://identifiers.org/clinvar/10173 ^@ NM_000132.3(F8):c.404A>G (p.Asp135Gly) http://identifiers.org/clinvar/10218 ^@ F8, 11-BP DEL, FS http://identifiers.org/clinvar/10263 ^@ NM_000132.3(F8):c.4825dupA (p.Thr1609Asnfs) http://identifiers.org/clinvar/10308 ^@ NM_000132.3(F8):c.6278A>G (p.Asp2093Gly) http://identifiers.org/clinvar/10353 ^@ F8, ALU INS http://identifiers.org/clinvar/10402 ^@ NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) http://identifiers.org/clinvar/10450 ^@ NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) http://identifiers.org/clinvar/10499 ^@ IDS, 78-BP INS http://identifiers.org/clinvar/10544 ^@ NM_006915.2(RP2):c.16_18delTCC (p.Ser6del) http://identifiers.org/clinvar/11077 ^@ NM_001128834.2(PLP1):c.655G>T (p.Val219Phe) http://identifiers.org/clinvar/11121 ^@ NM_000377.2(WAS):c.395_400dupACGAGG (p.Glu133_Ala134insAspGlu) http://identifiers.org/clinvar/11168 ^@ NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) http://identifiers.org/clinvar/11212 ^@ DMD, IVS68, T-A, +2 http://identifiers.org/clinvar/11258 ^@ NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) http://identifiers.org/clinvar/11302 ^@ NM_000033.3(ABCD1):c.1390C>T (p.Arg464Ter) http://identifiers.org/clinvar/11349 ^@ NM_000061.2(BTK):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/11394 ^@ NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) http://identifiers.org/clinvar/11415 ^@ NM_014009.3(FOXP3):c.1117_1118delTTinsGC (p.Phe373Ala) http://identifiers.org/clinvar/11465 ^@ IKBKG, 1-BP INS, 110C http://identifiers.org/clinvar/11517 ^@ NM_001011658.3(TRAPPC2):c.387delA (p.Val130Phefs) http://identifiers.org/clinvar/11567 ^@ NG_011479.1:g.2846C>A http://identifiers.org/clinvar/12421 ^@ NM_000363.4(TNNI3):c.244C>T (p.Pro82Ser) http://identifiers.org/clinvar/12472 ^@ NM_001159287.1(TPI1):c.622A>G (p.Ile208Val) http://identifiers.org/clinvar/12522 ^@ NM_004612.3(TGFBR1):c.599C>T (p.Thr200Ile) http://identifiers.org/clinvar/12572 ^@ ERBB3, IVS10, A-G, -8 http://identifiers.org/clinvar/12623 ^@ NM_001063.3(TF):c.1180G>A (p.Glu394Lys) http://identifiers.org/clinvar/12673 ^@ NM_002734.4(PRKAR1A):c.892-1G>A http://identifiers.org/clinvar/12725 ^@ NM_000367.4(TPMT):c.719A>G (p.Tyr240Cys) http://identifiers.org/clinvar/12775 ^@ NM_002354.2(EPCAM):c.859-1462_*1999del http://identifiers.org/clinvar/12825 ^@ NM_003106.3(SOX2):c.389G>C (p.Gly130Ala) http://identifiers.org/clinvar/12876 ^@ NM_001040142.1(SCN2A):c.3988C>T (p.Leu1330Phe) http://identifiers.org/clinvar/12926 ^@ NM_000702.3(ATP1A2):c.1643G>A (p.Arg548His) http://identifiers.org/clinvar/12976 ^@ NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) http://identifiers.org/clinvar/13027 ^@ NM_000539.3(RHO):c.632A>C (p.His211Pro) http://identifiers.org/clinvar/13078 ^@ NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) http://identifiers.org/clinvar/13129 ^@ NM_000536.3(RAG2):c.1433G>A (p.Cys478Tyr) http://identifiers.org/clinvar/13180 ^@ PRPH2, 1-BP DEL, 1160T http://identifiers.org/clinvar/13231 ^@ NM_005360.4(MAF):c.863G>C (p.Arg288Pro) http://identifiers.org/clinvar/13282 ^@ NM_000141.4(FGFR2):c.874A>G (p.Lys292Glu) http://identifiers.org/clinvar/13333 ^@ NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) http://identifiers.org/clinvar/13383 ^@ NM_000207.2(INS):c.266G>C (p.Arg89Pro) http://identifiers.org/clinvar/13438 ^@ NM_000371.3(TTR):c.224T>C (p.Leu75Pro) http://identifiers.org/clinvar/13489 ^@ NM_000217.2(KCNA1):c.724G>C (p.Ala242Pro) http://identifiers.org/clinvar/13539 ^@ CD36, 1-BP INS, 1159A http://identifiers.org/clinvar/36663 ^@ NM_006172.3(NPPA):c.123+16C>T http://identifiers.org/clinvar/36715 ^@ NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) http://identifiers.org/clinvar/36768 ^@ NM_003000.2(SDHB):c.32G>A (p.Arg11His) http://identifiers.org/clinvar/36818 ^@ NM_000545.6(HNF1A):c.326+20C>A http://identifiers.org/clinvar/36868 ^@ NM_003242.5(TGFBR2):c.310C>T (p.Pro104Ser) http://identifiers.org/clinvar/36920 ^@ NM_001382.3(DPAGT1):c.699dupC (p.Thr234Hisfs) http://identifiers.org/clinvar/37014 ^@ CCDC11, IVS6DS, G-A, +1 http://identifiers.org/clinvar/37095 ^@ FAN1, IVS2DS, T-A, +2 http://identifiers.org/clinvar/37217 ^@ C4ORF26, CYS43TER http://identifiers.org/clinvar/37309 ^@ NM_018117.11(WDR11):c.1303G>A (p.Ala435Thr) http://identifiers.org/clinvar/37393 ^@ NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) http://identifiers.org/clinvar/37445 ^@ NM_007294.3(BRCA1):c.2105dupT (p.Leu702Phefs) http://identifiers.org/clinvar/37499 ^@ NM_007294.3(BRCA1):c.301+7G>A http://identifiers.org/clinvar/37556 ^@ NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter) http://identifiers.org/clinvar/37607 ^@ NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) http://identifiers.org/clinvar/37662 ^@ NM_007294.3(BRCA1):c.5386delT (p.Ser1796Hisfs) http://identifiers.org/clinvar/37717 ^@ NM_000059.3(BRCA2):c.-9T>C http://identifiers.org/clinvar/37768 ^@ NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) http://identifiers.org/clinvar/37821 ^@ NM_000059.3(BRCA2):c.316+10G>A http://identifiers.org/clinvar/37873 ^@ NM_000059.3(BRCA2):c.4013delG (p.Gly1338Alafs) http://identifiers.org/clinvar/37926 ^@ NM_000059.3(BRCA2):c.4819A>G (p.Ile1607Val) http://identifiers.org/clinvar/37980 ^@ NM_000059.3(BRCA2):c.5621_5624delTTAA (p.Ile1874Argfs) http://identifiers.org/clinvar/38296 ^@ NG_007386.2:g.73292_77847del4556 http://identifiers.org/clinvar/38352 ^@ NM_002437.4(MPV17):c.263_265delAGA (p.Lys88del) http://identifiers.org/clinvar/39676 ^@ DDHD2, 1-BP INS, 1804T http://identifiers.org/clinvar/39728 ^@ NM_000431.3(MVK):c.122T>C (p.Leu41Pro) http://identifiers.org/clinvar/39779 ^@ NM_173591.3(OTOGL):c.547C>T (p.Arg183Ter) http://identifiers.org/clinvar/39830 ^@ NM_139242.3(MTFMT):c.994C>T (p.Arg332Ter) http://identifiers.org/clinvar/39973 ^@ NM_004525.2(LRP2):c.12437delG (p.Gly4146Glufs) http://identifiers.org/clinvar/40076 ^@ PCNT, 1-BP INS, 1527A http://identifiers.org/clinvar/40228 ^@ NM_000080.3(CHRNE):c.710G>T (p.Arg237Leu) http://identifiers.org/clinvar/40364 ^@ NM_004333.4(BRAF):c.1391G>T (p.Gly464Val) http://identifiers.org/clinvar/40431 ^@ NM_005343.3(HRAS):c.81T>C (p.His27=) http://identifiers.org/clinvar/40501 ^@ NM_002834.4(PTPN11):c.217A>C (p.Thr73Pro) http://identifiers.org/clinvar/40557 ^@ NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) http://identifiers.org/clinvar/40618 ^@ NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) http://identifiers.org/clinvar/40698 ^@ NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) http://identifiers.org/clinvar/40785 ^@ NM_002755.3(MAP2K1):c.308T>G (p.Ile103Ser) http://identifiers.org/clinvar/40984 ^@ NM_000084.4(CLCN5):c.674T>C (p.Leu225Pro) http://identifiers.org/clinvar/41042 ^@ NM_001232.3(CASQ2):c.62delA (p.Glu21Glyfs) http://identifiers.org/clinvar/41098 ^@ NM_003611.2(OFD1):c.2349delC (p.Ile784Serfs) http://identifiers.org/clinvar/41154 ^@ NM_003611.2(OFD1):c.898_899dupGA (p.Ala301Lysfs) http://identifiers.org/clinvar/41205 ^@ NM_003977.3(AIP):c.783C>T (p.Tyr261=) http://identifiers.org/clinvar/51165 ^@ NM_000059.3(BRCA2):c.1646_1649delAGGA (p.Lys549Argfs) http://identifiers.org/clinvar/51216 ^@ NM_000059.3(BRCA2):c.1855C>T (p.Gln619Ter) http://identifiers.org/clinvar/51268 ^@ NM_000059.3(BRCA2):c.2303C>T (p.Thr768Ile) http://identifiers.org/clinvar/51319 ^@ NM_000059.3(BRCA2):c.2637_2638delTG (p.Glu880Argfs) http://identifiers.org/clinvar/51369 ^@ NM_000059.3(BRCA2):c.2912T>G (p.Leu971Ter) http://identifiers.org/clinvar/51419 ^@ NM_000059.3(BRCA2):c.3195_3198delTAAT (p.Asn1066Leufs) http://identifiers.org/clinvar/51471 ^@ NM_000059.3(BRCA2):c.3458A>G (p.Lys1153Arg) http://identifiers.org/clinvar/51522 ^@ NM_000059.3(BRCA2):c.3773_3774delTA (p.Ile1258Lysfs) http://identifiers.org/clinvar/51574 ^@ NM_000059.3(BRCA2):c.3962A>G (p.Asp1321Gly) http://identifiers.org/clinvar/51624 ^@ NM_000059.3(BRCA2):c.4271delC (p.Ser1424Leufs) http://identifiers.org/clinvar/51676 ^@ NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val) http://identifiers.org/clinvar/51728 ^@ NM_000059.3(BRCA2):c.4854T>A (p.Asp1618Glu) http://identifiers.org/clinvar/51780 ^@ NM_000059.3(BRCA2):c.5157_5161delTTCAA (p.Asn1719Lysfs) http://identifiers.org/clinvar/51831 ^@ NM_000059.3(BRCA2):c.5254delC (p.His1752Ilefs) http://identifiers.org/clinvar/51884 ^@ NM_000059.3(BRCA2):c.5583dupA (p.Val1862Serfs) http://identifiers.org/clinvar/51936 ^@ NM_000059.3(BRCA2):c.5782G>A (p.Glu1928Lys) http://identifiers.org/clinvar/51987 ^@ NM_000059.3(BRCA2):c.6008T>C (p.Ile2003Thr) http://identifiers.org/clinvar/52039 ^@ NM_000059.3(BRCA2):c.6239T>G (p.Leu2080Ter) http://identifiers.org/clinvar/52091 ^@ NM_000059.3(BRCA2):c.6422dupG (p.Ser2142Phefs) http://identifiers.org/clinvar/52143 ^@ NM_000059.3(BRCA2):c.6638delC (p.Ser2213Leufs) http://identifiers.org/clinvar/52194 ^@ NM_000059.3(BRCA2):c.681+56C>G http://identifiers.org/clinvar/52245 ^@ NM_000059.3(BRCA2):c.7008-2A>G http://identifiers.org/clinvar/52296 ^@ NM_000059.3(BRCA2):c.7241C>G (p.Ser2414Ter) http://identifiers.org/clinvar/52346 ^@ NM_000059.3(BRCA2):c.7512T>G (p.Phe2504Leu) http://identifiers.org/clinvar/54677 ^@ NM_007294.3(BRCA1):c.2766delA (p.Val923Leufs) http://identifiers.org/clinvar/54727 ^@ NM_007294.3(BRCA1):c.2935C>T (p.Arg979Cys) http://identifiers.org/clinvar/54777 ^@ NM_007294.3(BRCA1):c.3143G>T (p.Gly1048Val) http://identifiers.org/clinvar/54827 ^@ NM_007294.3(BRCA1):c.329dupA (p.Glu111Glyfs) http://identifiers.org/clinvar/54877 ^@ NM_007294.3(BRCA1):c.3420dupT (p.His1141Serfs) http://identifiers.org/clinvar/54927 ^@ NM_007294.3(BRCA1):c.3593T>A (p.Leu1198Ter) http://identifiers.org/clinvar/54979 ^@ NM_007294.3(BRCA1):c.3722C>A (p.Ser1241Tyr) http://identifiers.org/clinvar/55030 ^@ NM_007294.3(BRCA1):c.3856delA (p.Ser1286Valfs) http://identifiers.org/clinvar/55081 ^@ NM_007294.3(BRCA1):c.4040G>A (p.Arg1347Lys) http://identifiers.org/clinvar/55132 ^@ NM_007294.3(BRCA1):c.4185_4185+3delGGTA http://identifiers.org/clinvar/55182 ^@ NM_007294.3(BRCA1):c.4370C>G (p.Ser1457Ter) http://identifiers.org/clinvar/55233 ^@ NM_007294.3(BRCA1):c.4585A>G (p.Ile1529Val) http://identifiers.org/clinvar/55283 ^@ NM_007294.3(BRCA1):c.4765C>T (p.Arg1589Cys) http://identifiers.org/clinvar/55334 ^@ NM_007294.3(BRCA1):c.4964_4979del16 (p.Ser1655Terfs) http://identifiers.org/clinvar/55384 ^@ NM_007294.3(BRCA1):c.5075_5078delATGC (p.Asp1692Valfs) http://identifiers.org/clinvar/56350 ^@ NM_001126105.2(SLC7A7):c.1147_1151dupAACTA (p.Tyr384Terfs) http://identifiers.org/clinvar/56402 ^@ NM_004260.3(RECQL4):c.1887_1890delGGAG (p.Glu630Alafs) http://identifiers.org/clinvar/56452 ^@ NM_004646.3(NPHS1):c.1829T>A (p.Leu610Gln) http://identifiers.org/clinvar/56761 ^@ NM_030943.3(AMN):c.974_977dupCCCG (p.Ala327Profs) http://identifiers.org/clinvar/56844 ^@ NM_001127713.1(ATL1):c.1244G>A (p.Arg415Gln) http://identifiers.org/clinvar/57021 ^@ GRCh38/hg38 6q27(chr6:169441378-170612001)x1 http://identifiers.org/clinvar/57075 ^@ GRCh38/hg38 12q24.33(chr12:130648435-130806970)x3 http://identifiers.org/clinvar/57130 ^@ GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 http://identifiers.org/clinvar/57181 ^@ GRCh38/hg38 4p16.3(chr4:51519-435002)x1 http://identifiers.org/clinvar/57233 ^@ GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3 http://identifiers.org/clinvar/57287 ^@ GRCh38/hg38 7p22.3(chr7:2109441-2412551)x1 http://identifiers.org/clinvar/57340 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 http://identifiers.org/clinvar/57392 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133558988)x1 http://identifiers.org/clinvar/101159 ^@ NM_000090.3(COL3A1):c.2869G>T (p.Gly957Cys) http://identifiers.org/clinvar/101209 ^@ NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) http://identifiers.org/clinvar/101259 ^@ NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu) http://identifiers.org/clinvar/101309 ^@ NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp) http://identifiers.org/clinvar/101359 ^@ NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser) http://identifiers.org/clinvar/101409 ^@ NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del) http://identifiers.org/clinvar/101459 ^@ NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu) http://identifiers.org/clinvar/101515 ^@ NM_006147.3(IRF6):c.1199G>A (p.Arg400Gln) http://identifiers.org/clinvar/102472 ^@ NM_000277.1(PAH):c.1022A>G (p.Lys341Arg) http://identifiers.org/clinvar/102527 ^@ NM_000277.1(PAH):c.1112A>G (p.Lys371Arg) http://identifiers.org/clinvar/102580 ^@ NM_000277.1(PAH):c.1252A>C (p.Thr418Pro) http://identifiers.org/clinvar/102634 ^@ NM_000277.1(PAH):c.227A>C (p.Glu76Ala) http://identifiers.org/clinvar/102687 ^@ NM_000277.1(PAH):c.464G>C (p.Arg155Pro) http://identifiers.org/clinvar/102737 ^@ NM_000277.1(PAH):c.561G>C (p.Trp187Cys) http://identifiers.org/clinvar/102788 ^@ NM_000277.1(PAH):c.694C>T (p.Gln232Ter) http://identifiers.org/clinvar/102838 ^@ NM_000277.1(PAH):c.797C>A (p.Thr266Lys) http://identifiers.org/clinvar/102890 ^@ NM_000277.1(PAH):c.907T>G (p.Ser303Ala) http://identifiers.org/clinvar/102948 ^@ NM_001282358.1(NLRX1):c.-49+134C>T http://identifiers.org/clinvar/102998 ^@ NM_000246.3(CIITA):c.2657+107C>A http://identifiers.org/clinvar/103048 ^@ NM_001174081.2(NLRP2):c.1053G>A (p.Pro351=) http://identifiers.org/clinvar/103098 ^@ NM_006092.2(NOD1):c.2285+220T>A http://identifiers.org/clinvar/103148 ^@ NM_024618.3(NLRX1):c.794C>T (p.Pro265Leu) http://identifiers.org/clinvar/103198 ^@ NM_032206.4(NLRC5):c.4584-134G>A http://identifiers.org/clinvar/125977 ^@ U43746.1:n.2241A>G http://identifiers.org/clinvar/126036 ^@ NM_000059.3(BRCA2):c.4048dupC (p.His1350Profs) http://identifiers.org/clinvar/126113 ^@ NM_000059.3(BRCA2):c.6645C>G (p.Tyr2215Ter) http://identifiers.org/clinvar/126170 ^@ NM_000059.3(BRCA2):c.8219dupT (p.Leu2740Phefs) http://identifiers.org/clinvar/126236 ^@ NM_001080522.2(CC2D2A):c.3183-8T>C http://identifiers.org/clinvar/126286 ^@ NM_024809.4(TCTN2):c.2041T>C (p.Leu681=) http://identifiers.org/clinvar/126393 ^@ NM_016381.5(TREX1):c.1033_1050del18 (p.Pro345_Ala350del) http://identifiers.org/clinvar/126461 ^@ NM_181523.2(PIK3R1):c.1971T>G (p.Tyr657Ter) http://identifiers.org/clinvar/126523 ^@ NM_173849.2(GSC):c.400C>T (p.Gln134Ter) http://identifiers.org/clinvar/126598 ^@ NM_024675.3(PALB2):c.1317delG (p.Phe440Leufs) http://identifiers.org/clinvar/126649 ^@ NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter) http://identifiers.org/clinvar/126700 ^@ NM_024675.3(PALB2):c.2996+124C>T http://identifiers.org/clinvar/126750 ^@ NM_024675.3(PALB2):c.48+1G>C http://identifiers.org/clinvar/126801 ^@ NM_000321.2(RB1):c.2247T>A (p.Tyr749Ter) http://identifiers.org/clinvar/126854 ^@ NM_004996.3(ABCC1):c.1988+219G>T http://identifiers.org/clinvar/126911 ^@ NM_007194.3(CHEK2):c.1259+1G>C http://identifiers.org/clinvar/126961 ^@ NM_017849.3(TMEM127):c.-18C>T http://identifiers.org/clinvar/127011 ^@ NM_002485.4(NBN):c.703-29C>T http://identifiers.org/clinvar/127061 ^@ NM_001983.3(ERCC1):c.774+64C>T http://identifiers.org/clinvar/127125 ^@ NM_007294.3(BRCA1):c.671-248_671-246dupAGG http://identifiers.org/clinvar/127231 ^@ NC_000005.8:g.161897090_161897091insTGTTTACTAAACAAAAAGAAAGAGC http://identifiers.org/clinvar/127285 ^@ NM_000038.5(APC):c.3145T>C (p.Trp1049Arg) http://identifiers.org/clinvar/127335 ^@ NM_000051.3(ATM):c.125A>G (p.His42Arg) http://identifiers.org/clinvar/127385 ^@ NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) http://identifiers.org/clinvar/127435 ^@ NM_000051.3(ATM):c.6998C>T (p.Thr2333Ile) http://identifiers.org/clinvar/127486 ^@ NM_000057.3(BLM):c.2452_2454delCGCinsGGG (p.Arg818Gly) http://identifiers.org/clinvar/127536 ^@ NM_000136.2(FANCC):c.1607T>C (p.Leu536Pro) http://identifiers.org/clinvar/127586 ^@ NM_000179.2(MSH6):c.335A>G (p.Asn112Ser) http://identifiers.org/clinvar/127637 ^@ NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) http://identifiers.org/clinvar/127696 ^@ NM_000314.6(PTEN):c.914G>A (p.Ser305Asn) http://identifiers.org/clinvar/127746 ^@ NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) http://identifiers.org/clinvar/127797 ^@ NM_000535.6(PMS2):c.824A>G (p.Gln275Arg) http://identifiers.org/clinvar/161662 ^@ NM_012424.4(RPS6KC1):c.3163T>C (p.Phe1055Leu) http://identifiers.org/clinvar/161562 ^@ NM_001195622.1(TOPORS):c.2613A>C (p.Gln871His) http://identifiers.org/clinvar/161762 ^@ NM_022769.4(CRTC3):c.1387C>A (p.Arg463Ser) http://identifiers.org/clinvar/161712 ^@ NM_018092.4(NETO2):c.1532G>C (p.Arg511Thr) http://identifiers.org/clinvar/161462 ^@ NM_000226.3(KRT9):c.1141G>T (p.Glu381Ter) http://identifiers.org/clinvar/161512 ^@ NM_001098494.1(ZNF419):c.76G>T (p.Gly26Cys) http://identifiers.org/clinvar/161612 ^@ NM_003325.3(HIRA):c.820G>A (p.Val274Met) http://identifiers.org/clinvar/162041 ^@ NM_001844.4(COL2A1):c.1191_1199dupTCCTGGGTC (p.Gly402_Pro403insSerProGly) http://identifiers.org/clinvar/162097 ^@ NM_005861.3(STUB1):c.194A>G (p.Asn65Ser) http://identifiers.org/clinvar/162161 ^@ NM_001396.4(DYRK1A):c.1232dupG (p.Arg413Thrfs) http://identifiers.org/clinvar/162370 ^@ NC_012920.1:m.5610G>A http://identifiers.org/clinvar/162435 ^@ NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) http://identifiers.org/clinvar/162506 ^@ NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) http://identifiers.org/clinvar/162586 ^@ NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) http://identifiers.org/clinvar/178830 ^@ NM_133378.4(TTN):c.41945-11T>C http://identifiers.org/clinvar/179081 ^@ NM_201557.3(FHL2):c.595C>A (p.Arg199Ser) http://identifiers.org/clinvar/166434 ^@ NM_206933.2(USH2A):c.12575G>A (p.Arg4192His) http://identifiers.org/clinvar/178881 ^@ NM_133378.4(TTN):c.51800T>G (p.Val17267Gly) http://identifiers.org/clinvar/166222 ^@ NM_001256850.1(TTN):c.13984+9C>T http://identifiers.org/clinvar/179281 ^@ NM_001256850.1(TTN):c.10361-4992C>T http://identifiers.org/clinvar/166274 ^@ NM_133379.4(TTN):c.12129A>G (p.Ala4043=) http://identifiers.org/clinvar/178981 ^@ NM_001256850.1(TTN):c.10387G>A (p.Glu3463Lys) http://identifiers.org/clinvar/166324 ^@ NM_133378.4(TTN):c.3625T>C (p.Phe1209Leu) http://identifiers.org/clinvar/179181 ^@ NM_133378.4(TTN):c.1914A>G (p.Glu638=) http://identifiers.org/clinvar/164847 ^@ NM_194248.2(OTOF):c.4213A>G (p.Ile1405Val) http://identifiers.org/clinvar/163142 ^@ NM_001369.2(DNAH5):c.7388A>G (p.Gln2463Arg) http://identifiers.org/clinvar/162838 ^@ NM_181426.1(CCDC39):c.2432G>A (p.Arg811His) http://identifiers.org/clinvar/179231 ^@ NM_198056.2(SCN5A):c.3250G>C (p.Gly1084Arg) http://identifiers.org/clinvar/166613 ^@ NM_006005.3(WFS1):c.2610C>T (p.Thr870=) http://identifiers.org/clinvar/163976 ^@ NR_029512.1(MIR96):n.42C>T http://identifiers.org/clinvar/178730 ^@ NM_001277115.1(DNAH11):c.9337-9T>C http://identifiers.org/clinvar/178931 ^@ NM_004999.3(MYO6):c.1383G>C (p.Glu461Asp) http://identifiers.org/clinvar/178362 ^@ NM_032119.3(ADGRV1):c.8265C>T (p.Ser2755=) http://identifiers.org/clinvar/198418 ^@ NM_000383.3(AIRE):c.841G>A (p.Ala281Thr) http://identifiers.org/clinvar/198468 ^@ NM_001456.3(FLNA):c.1029C>T (p.Ser343=) http://identifiers.org/clinvar/198522 ^@ NM_004727.2(SLC24A1):c.2577C>T (p.Ser859=) http://identifiers.org/clinvar/198783 ^@ NM_003159.2(CDKL5):c.541G>A (p.Glu181Lys) http://identifiers.org/clinvar/198836 ^@ NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) http://identifiers.org/clinvar/198890 ^@ NM_018328.4(MBD5):c.340_347delAAAAGCAT (p.Lys114Glyfs) http://identifiers.org/clinvar/198943 ^@ NM_001267550.2(TTN):c.24022G>A (p.Val8008Ile) http://identifiers.org/clinvar/198994 ^@ NM_000159.3(GCDH):c.911C>G (p.Ala304Gly) http://identifiers.org/clinvar/200939 ^@ NM_170707.3(LMNA):c.1057C>T (p.Gln353Ter) http://identifiers.org/clinvar/201243 ^@ NM_001035.2(RYR2):c.4010A>G (p.Tyr1337Cys) http://identifiers.org/clinvar/201296 ^@ NM_001035.2(RYR2):c.9625C>A (p.Pro3209Thr) http://identifiers.org/clinvar/201411 ^@ NM_001035.2(RYR2):c.12667_12669delAAG (p.Lys4223del) http://identifiers.org/clinvar/201187 ^@ NM_001035.2(RYR2):c.14152-17C>G http://identifiers.org/clinvar/201354 ^@ NM_001035.2(RYR2):c.14159T>C (p.Leu4720Pro) http://identifiers.org/clinvar/201524 ^@ NM_198056.2(SCN5A):c.4999G>C (p.Val1667Leu) http://identifiers.org/clinvar/201465 ^@ NM_198056.2(SCN5A):c.2788-2A>G http://identifiers.org/clinvar/201579 ^@ NM_198056.2(SCN5A):c.1993G>A (p.Ala665Thr) http://identifiers.org/clinvar/200471 ^@ NM_000238.3(KCNH2):c.2582A>G (p.Asn861Ser) http://identifiers.org/clinvar/200721 ^@ NM_000238.3(KCNH2):c.1129-1G>A http://identifiers.org/clinvar/200614 ^@ NM_000238.3(KCNH2):c.809_812delCGCGinsAAAAGC (p.Thr270Lysfs) http://identifiers.org/clinvar/200877 ^@ NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) http://identifiers.org/clinvar/200824 ^@ NM_000218.2(KCNQ1):c.914G>T (p.Trp305Leu) http://identifiers.org/clinvar/201015 ^@ NM_130799.2(MEN1):c.1252G>C (p.Asp418His) http://identifiers.org/clinvar/201067 ^@ NM_002474.2(MYH11):c.3827C>T (p.Ala1276Val) http://identifiers.org/clinvar/201120 ^@ NM_002474.2(MYH11):c.281C>T (p.Thr94Met) http://identifiers.org/clinvar/201637 ^@ NM_001103.3(ACTN2):c.1287C>G (p.Tyr429Ter) http://identifiers.org/clinvar/230267 ^@ NM_000038.5(APC):c.6497G>A (p.Arg2166Gln) http://identifiers.org/clinvar/230217 ^@ NM_005732.3(RAD50):c.217G>A (p.Ala73Thr) http://identifiers.org/clinvar/231456 ^@ NM_000535.6(PMS2):c.1364C>G (p.Ser455Cys) http://identifiers.org/clinvar/232256 ^@ NM_002485.4(NBN):c.2151A>G (p.Thr717=) http://identifiers.org/clinvar/231856 ^@ NM_000368.4(TSC1):c.348A>C (p.Leu116Phe) http://identifiers.org/clinvar/231706 ^@ NM_004329.2(BMPR1A):c.415C>T (p.Pro139Ser) http://identifiers.org/clinvar/229717 ^@ NM_000051.3(ATM):c.467G>C (p.Trp156Ser) http://identifiers.org/clinvar/232506 ^@ NM_000051.3(ATM):c.2002G>A (p.Glu668Lys) http://identifiers.org/clinvar/232306 ^@ NM_000051.3(ATM):c.2019_2020insGACAAG (p.Lys673_His674insAspLys) http://identifiers.org/clinvar/230417 ^@ NM_000051.3(ATM):c.2495G>C (p.Arg832Pro) http://identifiers.org/clinvar/232957 ^@ NM_005591.3(MRE11):c.1500+3A>G http://identifiers.org/clinvar/230567 ^@ NM_005591.3(MRE11):c.1141T>C (p.Phe381Leu) http://identifiers.org/clinvar/231956 ^@ NM_000075.3(CDK4):c.651C>T (p.Asn217=) http://identifiers.org/clinvar/232657 ^@ NM_000075.3(CDK4):c.645T>C (p.Cys215=) http://identifiers.org/clinvar/232907 ^@ NM_000059.3(BRCA2):c.2862G>A (p.Glu954=) http://identifiers.org/clinvar/232857 ^@ NM_000059.3(BRCA2):c.4033_4035delGAT (p.Asp1345del) http://identifiers.org/clinvar/232456 ^@ NM_000059.3(BRCA2):c.4967C>G (p.Thr1656Arg) http://identifiers.org/clinvar/230167 ^@ NM_000059.3(BRCA2):c.6267_6274delGCATAGTC (p.Glu2089Aspfs) http://identifiers.org/clinvar/232206 ^@ NM_000059.3(BRCA2):c.6332dupA (p.Arg2112Glufs) http://identifiers.org/clinvar/229817 ^@ NM_000548.4(TSC2):c.2313A>G (p.Thr771=) http://identifiers.org/clinvar/229867 ^@ NM_024675.3(PALB2):c.3377A>C (p.His1126Pro) http://identifiers.org/clinvar/232056 ^@ NM_024675.3(PALB2):c.2978C>T (p.Thr993Met) http://identifiers.org/clinvar/233107 ^@ NM_024675.3(PALB2):c.1952G>A (p.Gly651Glu) http://identifiers.org/clinvar/233157 ^@ NM_004360.4(CDH1):c.2024A>G (p.Lys675Arg) http://identifiers.org/clinvar/230017 ^@ NM_144997.5(FLCN):c.97G>T (p.Asp33Tyr) http://identifiers.org/clinvar/233007 ^@ NM_001042492.2(NF1):c.6C>T (p.Ala2=) http://identifiers.org/clinvar/232106 ^@ NM_001042492.2(NF1):c.200A>G (p.Asn67Ser) http://identifiers.org/clinvar/233057 ^@ NM_001042492.2(NF1):c.4462A>G (p.Thr1488Ala) http://identifiers.org/clinvar/231506 ^@ NM_001042492.2(NF1):c.4832G>A (p.Arg1611Gln) http://identifiers.org/clinvar/229667 ^@ NM_001042492.2(NF1):c.5676A>G (p.Leu1892=) http://identifiers.org/clinvar/232006 ^@ NM_001042492.2(NF1):c.6781C>T (p.His2261Tyr) http://identifiers.org/clinvar/230467 ^@ NM_001042492.2(NF1):c.7549C>T (p.Arg2517Ter) http://identifiers.org/clinvar/232356 ^@ NM_007294.3(BRCA1):c.5337A>G (p.Gln1779=) http://identifiers.org/clinvar/233207 ^@ NM_007294.3(BRCA1):c.5030C>T (p.Thr1677Ile) http://identifiers.org/clinvar/229767 ^@ NM_007294.3(BRCA1):c.3904G>A (p.Glu1302Lys) http://identifiers.org/clinvar/229967 ^@ NM_007294.3(BRCA1):c.2102A>G (p.Lys701Arg) http://identifiers.org/clinvar/232156 ^@ NM_058216.2(RAD51C):c.672_705+65dup99 http://identifiers.org/clinvar/230517 ^@ NM_058216.2(RAD51C):c.1032G>A (p.Gln344=) http://identifiers.org/clinvar/230667 ^@ NM_032043.2(BRIP1):c.2462C>T (p.Ala821Val) http://identifiers.org/clinvar/231606 ^@ NM_000546.5(TP53):c.716_736del21 (p.Asn239_Gly245del) http://identifiers.org/clinvar/232757 ^@ NM_000455.4(STK11):c.509A>G (p.Gln170Arg) http://identifiers.org/clinvar/232607 ^@ NM_007194.3(CHEK2):c.1375+3A>G http://identifiers.org/clinvar/232556 ^@ NM_007194.3(CHEK2):c.1096-3_1098delTAGATT http://identifiers.org/clinvar/230067 ^@ NM_007194.3(CHEK2):c.158C>G (p.Ser53Cys) http://identifiers.org/clinvar/235697 ^@ NM_000138.4(FBN1):c.2964_2971delGGGTACTG (p.Trp988Terfs) http://identifiers.org/clinvar/235759 ^@ NM_004035.6(ACOX1):c.80C>T (p.Pro27Leu) http://identifiers.org/clinvar/235832 ^@ NM_052867.2(NALCN):c.3050T>C (p.Ile1017Thr) http://identifiers.org/clinvar/235909 ^@ NM_024422.4(DSC2):c.1660C>T (p.Gln554Ter) http://identifiers.org/clinvar/236166 ^@ NM_004621.5(TRPC6):c.1766C>G (p.Ser589Cys) http://identifiers.org/clinvar/236242 ^@ NM_001183.5(ATP6AP1):c.938A>G (p.Tyr313Cys) http://identifiers.org/clinvar/236305 ^@ NC_000005.8:g.175492445_177359136del1866692 http://identifiers.org/clinvar/236355 ^@ NC_000004.10:g.114225715_114429181del203467 http://identifiers.org/clinvar/236405 ^@ NM_000157.3(GBA):c.1397T>G (p.Ile466Ser) http://identifiers.org/clinvar/236456 ^@ NM_006343.2(MERTK):c.933_935delCTCinsTT (p.Pro313Argfs) http://identifiers.org/clinvar/236506 ^@ NM_020366.3(RPGRIP1):c.1303A>T (p.Lys435Ter) http://identifiers.org/clinvar/239456 ^@ NM_003001.3(SDHC):c.406-?_*2318+?del http://identifiers.org/clinvar/240946 ^@ NM_014874.3(MFN2):c.2256C>G (p.Tyr752Ter) http://identifiers.org/clinvar/241496 ^@ NM_024529.4(CDC73):c.687_688dupAG (p.Val230Glufs) http://identifiers.org/clinvar/241296 ^@ NM_020435.3(GJC2):c.1193C>T (p.Thr398Ile) http://identifiers.org/clinvar/238302 ^@ NM_001103.3(ACTN2):c.556C>T (p.Leu186Phe) http://identifiers.org/clinvar/239556 ^@ NM_003738.4(PTCH2):c.2355C>T (p.Tyr785=) http://identifiers.org/clinvar/238352 ^@ NM_001128425.1(MUTYH):c.690+1G>T http://identifiers.org/clinvar/238602 ^@ NM_001165963.1(SCN1A):c.3712G>C (p.Glu1238Gln) http://identifiers.org/clinvar/238702 ^@ NM_001267550.2(TTN):c.107634A>G (p.Thr35878=) http://identifiers.org/clinvar/238852 ^@ NM_001267550.2(TTN):c.83317T>C (p.Leu27773=) http://identifiers.org/clinvar/238802 ^@ NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys) http://identifiers.org/clinvar/238752 ^@ NM_001267550.2(TTN):c.36285C>T (p.His12095=) http://identifiers.org/clinvar/239103 ^@ NM_002156.4(HSPD1):c.385G>A (p.Glu129Lys) http://identifiers.org/clinvar/237752 ^@ NM_000384.2(APOB):c.9105T>C (p.Asn3035=) http://identifiers.org/clinvar/241246 ^@ NM_018062.3(FANCL):c.1115G>C (p.Gly372Ala) http://identifiers.org/clinvar/240996 ^@ NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) http://identifiers.org/clinvar/238102 ^@ NM_000551.3(VHL):c.172C>T (p.Arg58Trp) http://identifiers.org/clinvar/240346 ^@ NM_006206.4(PDGFRA):c.3211G>A (p.Asp1071Asn) http://identifiers.org/clinvar/236556 ^@ NM_000038.5(APC):c.1005A>C (p.Leu335=) http://identifiers.org/clinvar/236606 ^@ NM_000038.5(APC):c.4768A>G (p.Lys1590Glu) http://identifiers.org/clinvar/236656 ^@ NM_000038.5(APC):c.8412G>T (p.Gln2804His) http://identifiers.org/clinvar/238952 ^@ NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) http://identifiers.org/clinvar/239506 ^@ NM_003122.4(SPINK1):c.194+184T>A http://identifiers.org/clinvar/238652 ^@ NM_001206927.1(DNAH8):c.5490C>A (p.Asp1830Glu) http://identifiers.org/clinvar/240846 ^@ NM_012123.3(MTO1):c.1222A>G (p.Ile408Val) http://identifiers.org/clinvar/241396 ^@ NM_021930.5(RINT1):c.1377C>T (p.Ala459=) http://identifiers.org/clinvar/241096 ^@ NM_016203.3(PRKAG2):c.593C>T (p.Pro198Leu) http://identifiers.org/clinvar/238902 ^@ NM_001277115.1(DNAH11):c.1680T>A (p.Phe560Leu) http://identifiers.org/clinvar/237902 ^@ NM_000535.6(PMS2):c.2245A>G (p.Asn749Asp) http://identifiers.org/clinvar/262784 ^@ NM_153717.2(EVC):c.939+10A>G http://identifiers.org/clinvar/261795 ^@ NM_025074.6(FRAS1):c.10377C>T (p.Thr3459=) http://identifiers.org/clinvar/258055 ^@ NM_001369.2(DNAH5):c.6842-22A>G http://identifiers.org/clinvar/258005 ^@ NM_001369.2(DNAH5):c.1645-26C>T http://identifiers.org/clinvar/256816 ^@ NM_000806.5(GABRA1):c.857-18T>C http://identifiers.org/clinvar/261595 ^@ NM_022455.4(NSD1):c.7275A>G (p.Leu2425=) http://identifiers.org/clinvar/263034 ^@ NM_182925.4(FLT4):c.2168-49G>A http://identifiers.org/clinvar/256066 ^@ NM_000426.3(LAMA2):c.3175-32_3175-31delGT http://identifiers.org/clinvar/260845 ^@ NM_017651.4(AHI1):c.2374-12delT http://identifiers.org/clinvar/259105 ^@ NM_003630.2(PEX3):c.206-14delT http://identifiers.org/clinvar/261095 ^@ NM_019105.6(TNXB):c.10362C>T (p.Thr3454=) http://identifiers.org/clinvar/261145 ^@ NM_019105.6(TNXB):c.607G>A (p.Val203Met) http://identifiers.org/clinvar/262684 ^@ NM_152732.4(RSPH9):c.-18A>G http://identifiers.org/clinvar/258355 ^@ NM_001851.4(COL9A1):c.2034+19T>G http://identifiers.org/clinvar/260495 ^@ NM_014989.5(RIMS1):c.2895G>A (p.Pro965=) http://identifiers.org/clinvar/259605 ^@ NM_004999.3(MYO6):c.2517T>C (p.Gly839=) http://identifiers.org/clinvar/258155 ^@ NM_001458.4(FLNC):c.969+14G>T http://identifiers.org/clinvar/261345 ^@ NM_020632.2(ATP6V0A4):c.5T>C (p.Val2Ala) http://identifiers.org/clinvar/260695 ^@ NM_016203.3(PRKAG2):c.114+43C>T http://identifiers.org/clinvar/257905 ^@ NM_001277115.1(DNAH11):c.5329-9T>C http://identifiers.org/clinvar/257855 ^@ NM_001277115.1(DNAH11):c.11508C>G (p.Val3836=) http://identifiers.org/clinvar/256166 ^@ NM_000443.3(ABCB4):c.711A>T (p.Ile237=) http://identifiers.org/clinvar/256216 ^@ NM_000466.2(PEX1):c.-53C>G http://identifiers.org/clinvar/263134 ^@ NM_198488.3(FAM83H):c.1910C>T (p.Pro637Leu) http://identifiers.org/clinvar/261295 ^@ NM_020476.2(ANK1):c.183G>C (p.Val61=) http://identifiers.org/clinvar/260895 ^@ NM_017780.3(CHD7):c.2442+38A>T http://identifiers.org/clinvar/261195 ^@ NM_019892.5(INPP5E):c.1388-13C>T http://identifiers.org/clinvar/262534 ^@ NM_144966.5(FREM1):c.1315G>C (p.Val439Leu) http://identifiers.org/clinvar/259555 ^@ NM_004817.3(TJP2):c.3372G>A (p.Thr1124=) http://identifiers.org/clinvar/256266 ^@ NM_000494.3(COL17A1):c.1282G>A (p.Gly428Ser) http://identifiers.org/clinvar/261395 ^@ NM_020975.4(RET):c.1908G>A (p.Thr636=) http://identifiers.org/clinvar/261545 ^@ NM_022124.5(CDH23):c.2397+26T>C http://identifiers.org/clinvar/258805 ^@ NM_002778.3(PSAP):c.-28A>C http://identifiers.org/clinvar/260795 ^@ NM_016952.4(CDON):c.350-13T>C http://identifiers.org/clinvar/255816 ^@ NM_000315.3(PTH):c.-5-10G>A http://identifiers.org/clinvar/262734 ^@ NM_153676.3(USH1C):c.37-45C>G http://identifiers.org/clinvar/262984 ^@ NM_181507.1(HPS5):c.1862+17A>C http://identifiers.org/clinvar/256316 ^@ NM_000506.4(F2):c.480C>T (p.Pro160=) http://identifiers.org/clinvar/261745 ^@ NM_024649.4(BBS1):c.*7A>G http://identifiers.org/clinvar/259205 ^@ NM_003977.3(AIP):c.682C>A (p.Gln228Lys) http://identifiers.org/clinvar/258555 ^@ NM_002180.2(IGHMBP2):c.-2C>T http://identifiers.org/clinvar/261245 ^@ NM_020376.3(PNPLA2):c.696+16A>G http://identifiers.org/clinvar/261695 ^@ NM_024312.4(GNPTAB):c.3336-25T>C http://identifiers.org/clinvar/256766 ^@ NM_000719.6(CACNA1C):c.3747C>T (p.Ile1249=) http://identifiers.org/clinvar/258205 ^@ NM_001844.4(COL2A1):c.1123-29_1123-27delTTC http://identifiers.org/clinvar/255766 ^@ NM_000289.5(PFKM):c.747+24T>G http://identifiers.org/clinvar/259055 ^@ NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) http://identifiers.org/clinvar/256666 ^@ NM_000552.4(VWF):c.3379+7A>C http://identifiers.org/clinvar/258255 ^@ NM_001845.5(COL4A1):c.4470C>T (p.Ala1490=) http://identifiers.org/clinvar/257116 ^@ NM_001024858.2(SPTB):c.4236C>T (p.Thr1412=) http://identifiers.org/clinvar/255716 ^@ NM_000275.2(OCA2):c.1065G>A (p.Ala355=) http://identifiers.org/clinvar/332501 ^@ NM_002148.3(HOXD10):c.*235delAinsTATATATATAT http://identifiers.org/clinvar/332651 ^@ NM_001042702.3(DFNB59):c.-124G>A http://identifiers.org/clinvar/332701 ^@ NM_133378.4(TTN):c.93364C>A (p.Pro31122Thr) http://identifiers.org/clinvar/332751 ^@ NM_133378.4(TTN):c.76275T>C (p.Thr25425=) http://identifiers.org/clinvar/336031 ^@ NM_022436.2(ABCG5):c.*380T>G http://identifiers.org/clinvar/336081 ^@ NM_022437.2(ABCG8):c.1470T>C (p.Gly490=) http://identifiers.org/clinvar/333290 ^@ NM_007315.3(STAT1):c.354C>T (p.Asn118=) http://identifiers.org/clinvar/333340 ^@ NM_001006657.1(WDR35):c.*1934A>G http://identifiers.org/clinvar/336181 ^@ NM_133259.3(LRPPRC):c.-45G>A http://identifiers.org/clinvar/336231 ^@ NM_001430.4(EPAS1):c.-86C>T http://identifiers.org/clinvar/336381 ^@ NM_139279.5(MCFD2):c.416C>T (p.Ala139Val) http://identifiers.org/clinvar/333490 ^@ NM_032977.3(CASP10):c.*3137G>C http://identifiers.org/clinvar/333690 ^@ NM_001204.6(BMPR2):c.*3446G>A http://identifiers.org/clinvar/336281 ^@ NM_001430.4(EPAS1):c.2496G>C (p.Glu832Asp) http://identifiers.org/clinvar/333990 ^@ NM_001608.3(ACADL):c.1144G>A (p.Asp382Asn) http://identifiers.org/clinvar/336331 ^@ NM_139279.5(MCFD2):c.*3014G>A http://identifiers.org/clinvar/333840 ^@ NM_014929.3(FASTKD2):c.*2316G>A http://identifiers.org/clinvar/334542 ^@ NM_015311.2(OBSL1):c.-43dupC http://identifiers.org/clinvar/334342 ^@ NM_015488.4(PNKD):c.*902T>C http://identifiers.org/clinvar/342378 ^@ NM_033084.4(FANCD2):c.4186-13C>T http://identifiers.org/clinvar/334392 ^@ NM_025216.2(WNT10A):c.85C>T (p.Leu29=) http://identifiers.org/clinvar/334492 ^@ NM_015311.2(OBSL1):c.3816C>T (p.Pro1272=) http://identifiers.org/clinvar/342578 ^@ NM_198196.2(CD96):c.*1815G>A http://identifiers.org/clinvar/334642 ^@ NM_000092.4(COL4A4):c.*4385A>G http://identifiers.org/clinvar/343028 ^@ NM_000373.3(UMPS):c.*4316C>A http://identifiers.org/clinvar/342478 ^@ NM_000551.3(VHL):c.*2594C>A http://identifiers.org/clinvar/343328 ^@ NM_014382.3(ATP2C1):c.1683C>T (p.Ala561=) http://identifiers.org/clinvar/343428 ^@ NM_001063.3(TF):c.228G>A (p.Ala76=) http://identifiers.org/clinvar/342628 ^@ NM_020754.3(ARHGAP31):c.349-9_349-7delTCT http://identifiers.org/clinvar/342928 ^@ NM_000373.3(UMPS):c.441T>C (p.Thr147=) http://identifiers.org/clinvar/343228 ^@ NM_052985.3(IFT122):c.109-15T>C http://identifiers.org/clinvar/343278 ^@ NM_000539.3(RHO):c.586C>A (p.Pro196Thr) http://identifiers.org/clinvar/357923 ^@ NM_012434.4(SLC17A5):c.1192A>G (p.Ile398Val) http://identifiers.org/clinvar/358073 ^@ NM_181714.3(LCA5):c.*1300G>A http://identifiers.org/clinvar/358123 ^@ NM_022726.3(ELOVL4):c.*1549_*1553delACATA http://identifiers.org/clinvar/358373 ^@ NM_005045.3(RELN):c.*67G>A http://identifiers.org/clinvar/355234 ^@ NM_000426.3(LAMA2):c.-99A>G http://identifiers.org/clinvar/355284 ^@ NM_000426.3(LAMA2):c.6133A>G (p.Asn2045Asp) http://identifiers.org/clinvar/358623 ^@ NM_014491.3(FOXP2):c.*236A>G http://identifiers.org/clinvar/355784 ^@ NM_203395.2(IYD):c.*5934A>T http://identifiers.org/clinvar/358923 ^@ NM_018718.2(CEP41):c.*1411G>T http://identifiers.org/clinvar/358973 ^@ NM_005989.3(AKR1D1):c.*1091C>T http://identifiers.org/clinvar/356434 ^@ NM_001014.4(RPS10):c.-58C>T http://identifiers.org/clinvar/352394 ^@ NM_000337.5(SGCD):c.*4638C>A http://identifiers.org/clinvar/356484 ^@ NM_182548.3(LHFPL5):c.-128C>T http://identifiers.org/clinvar/356534 ^@ NM_182548.3(LHFPL5):c.*509_*510insTCTCTCTC http://identifiers.org/clinvar/352594 ^@ NM_000806.5(GABRA1):c.-31C>T http://identifiers.org/clinvar/360062 ^@ NM_198428.2(BBS9):c.1130A>G (p.Asn377Ser) http://identifiers.org/clinvar/360112 ^@ NM_133468.4(BMPER):c.1461G>T (p.Pro487=) http://identifiers.org/clinvar/352644 ^@ NM_000816.3(GABRG2):c.1365G>A (p.Leu455=) http://identifiers.org/clinvar/360162 ^@ NM_000168.5(GLI3):c.*2757C>T http://identifiers.org/clinvar/360212 ^@ NM_000168.5(GLI3):c.*265A>C http://identifiers.org/clinvar/360312 ^@ NM_014855.2(AP5Z1):c.512-7A>G http://identifiers.org/clinvar/360362 ^@ NM_014855.2(AP5Z1):c.*761G>A http://identifiers.org/clinvar/360562 ^@ NM_000181.3(GUSB):c.-72G>T http://identifiers.org/clinvar/352894 ^@ NM_022455.4(NSD1):c.*209G>T http://identifiers.org/clinvar/353094 ^@ NM_014244.4(ADAMTS2):c.2834C>T (p.Pro945Leu) http://identifiers.org/clinvar/352944 ^@ NM_022455.4(NSD1):c.*4610_*4611dupCC http://identifiers.org/clinvar/353144 ^@ NM_014244.4(ADAMTS2):c.258C>G (p.Ala86=) http://identifiers.org/clinvar/360762 ^@ NM_001001547.2(CD36):c.682G>A (p.Asp228Asn) http://identifiers.org/clinvar/357323 ^@ NM_003221.3(TFAP2B):c.*1950C>G http://identifiers.org/clinvar/353194 ^@ NM_004553.4(NDUFS6):c.369C>T (p.His123=) http://identifiers.org/clinvar/353044 ^@ NM_014244.4(ADAMTS2):c.*2589T>G http://identifiers.org/clinvar/357423 ^@ NM_138694.3(PKHD1):c.8870T>C (p.Ile2957Thr) http://identifiers.org/clinvar/357523 ^@ NM_018100.3(EFHC1):c.*2419A>G http://identifiers.org/clinvar/353394 ^@ NM_133433.3(NIPBL):c.*334G>A http://identifiers.org/clinvar/353244 ^@ NM_014324.5(AMACR):c.*663G>A http://identifiers.org/clinvar/353294 ^@ NM_002185.3(IL7R):c.*1552G>A http://identifiers.org/clinvar/353644 ^@ NM_000436.3(OXCT1):c.*1444G>T http://identifiers.org/clinvar/357873 ^@ NM_014989.5(RIMS1):c.*542A>T http://identifiers.org/clinvar/353694 ^@ NM_000163.4(GHR):c.*364C>T http://identifiers.org/clinvar/357973 ^@ NM_004415.3(DSP):c.*197C>T http://identifiers.org/clinvar/353794 ^@ NM_002203.3(ITGA2):c.*609T>G http://identifiers.org/clinvar/353444 ^@ NM_023073.3(C5orf42):c.6125A>C (p.Glu2042Ala) http://identifiers.org/clinvar/353494 ^@ NM_000514.3(GDNF):c.*1605T>C http://identifiers.org/clinvar/306217 ^@ NM_024079.4(ALG8):c.897C>T (p.Ile299=) http://identifiers.org/clinvar/363821 ^@ NM_000318.2(PEX2):c.-178C>T http://identifiers.org/clinvar/306317 ^@ NM_020376.3(PNPLA2):c.*637C>T http://identifiers.org/clinvar/364021 ^@ NM_001001557.3(GDF6):c.*653C>A http://identifiers.org/clinvar/363921 ^@ NM_153704.5(TMEM67):c.1511C>A (p.Ser504Tyr) http://identifiers.org/clinvar/364221 ^@ NM_014425.4(INVS):c.118C>G (p.Leu40Val) http://identifiers.org/clinvar/364271 ^@ NM_001701.3(BAAT):c.*589C>T http://identifiers.org/clinvar/364321 ^@ NM_005502.3(ABCA1):c.*3251T>C http://identifiers.org/clinvar/364371 ^@ NM_005502.3(ABCA1):c.*303C>T http://identifiers.org/clinvar/364471 ^@ NM_005502.3(ABCA1):c.-77G>A http://identifiers.org/clinvar/307707 ^@ NM_025215.5(PUS1):c.1135G>A (p.Gly379Ser) http://identifiers.org/clinvar/364771 ^@ NM_018249.5(CDK5RAP2):c.1859-14dupT http://identifiers.org/clinvar/307907 ^@ NM_019844.3(SLCO1B3):c.1593A>G (p.Thr531=) http://identifiers.org/clinvar/308007 ^@ NM_021957.3(GYS2):c.534A>G (p.Gln178=) http://identifiers.org/clinvar/308107 ^@ NM_004985.4(KRAS):c.*1501G>A http://identifiers.org/clinvar/308157 ^@ NM_000719.6(CACNA1C):c.4726+13G>A http://identifiers.org/clinvar/308307 ^@ NM_139241.3(FGD4):c.*792A>T http://identifiers.org/clinvar/308757 ^@ NM_016123.3(IRAK4):c.*1974G>A http://identifiers.org/clinvar/308857 ^@ NM_001017535.1(VDR):c.*877C>G http://identifiers.org/clinvar/365860 ^@ NM_052813.4(CARD9):c.12C>T (p.Tyr4=) http://identifiers.org/clinvar/366311 ^@ NM_002451.3(MTAP):c.*3361C>T http://identifiers.org/clinvar/366361 ^@ NM_003383.4(VLDLR):c.505A>G (p.Arg169Gly) http://identifiers.org/clinvar/365961 ^@ NM_016219.4(MAN1B1):c.1255-13C>T http://identifiers.org/clinvar/366011 ^@ NM_024757.4(EHMT1):c.1931A>C (p.Lys644Thr) http://identifiers.org/clinvar/310096 ^@ NM_001065.3(TNFRSF1A):c.*387A>G http://identifiers.org/clinvar/366511 ^@ NM_001256054.2(C9orf72):c.1260-13_1260-12insT http://identifiers.org/clinvar/366111 ^@ NM_144966.5(FREM1):c.5466T>C (p.Asp1822=) http://identifiers.org/clinvar/310546 ^@ NM_018979.3(WNK1):c.684C>T (p.Gly228=) http://identifiers.org/clinvar/302813 ^@ NM_005188.3(CBL):c.*1884C>T http://identifiers.org/clinvar/366911 ^@ NM_001042413.1(GLIS3):c.*2806G>A http://identifiers.org/clinvar/366461 ^@ NM_000459.4(TEK):c.*257T>A http://identifiers.org/clinvar/366561 ^@ NM_005802.4(TOPORS):c.2797G>T (p.Asp933Tyr) http://identifiers.org/clinvar/310951 ^@ NM_002312.3(LIG4):c.*855_*856insTTTT http://identifiers.org/clinvar/367061 ^@ NM_004170.5(SLC1A1):c.1521C>A (p.Gly507=) http://identifiers.org/clinvar/321975 ^@ NM_017775.3(TTC19):c.*1324delA http://identifiers.org/clinvar/322025 ^@ NM_012452.2(TNFRSF13B):c.752C>T (p.Pro251Leu) http://identifiers.org/clinvar/340589 ^@ NM_014339.6(IL17RA):c.1045+7G>A http://identifiers.org/clinvar/340939 ^@ NM_016327.2(UPB1):c.*23G>A http://identifiers.org/clinvar/341039 ^@ NM_022081.5(HPS4):c.-661G>T http://identifiers.org/clinvar/341389 ^@ NM_000362.4(TIMP3):c.*2519T>G http://identifiers.org/clinvar/341489 ^@ NM_002473.5(MYH9):c.*74G>A http://identifiers.org/clinvar/322814 ^@ NM_145068.3(TRPV3):c.-318A>G http://identifiers.org/clinvar/323164 ^@ NM_002230.2(JUP):c.1995C>T (p.Ser665=) http://identifiers.org/clinvar/315689 ^@ NM_005159.4(ACTC1):c.*561C>A http://identifiers.org/clinvar/323464 ^@ NM_138387.3(G6PC3):c.406C>T (p.Arg136Trp) http://identifiers.org/clinvar/367879 ^@ NM_002351.4(SH2D1A):c.*759G>C http://identifiers.org/clinvar/315989 ^@ NM_173500.3(TTBK2):c.2171G>A (p.Gly724Glu) http://identifiers.org/clinvar/323864 ^@ NM_000212.2(ITGB3):c.537C>T (p.Phe179=) http://identifiers.org/clinvar/323914 ^@ NM_018129.3(PNPO):c.*272T>G http://identifiers.org/clinvar/324014 ^@ NM_005220.2(DLX3):c.*821C>A http://identifiers.org/clinvar/324064 ^@ NM_000088.3(COL1A1):c.*1028_*1029delTG http://identifiers.org/clinvar/324114 ^@ NM_000088.3(COL1A1):c.1002+10G>T http://identifiers.org/clinvar/368479 ^@ NM_000084.4(CLCN5):c.1033C>T (p.Arg345Trp) http://identifiers.org/clinvar/316539 ^@ NM_182758.3(WDR72):c.*2356C>T http://identifiers.org/clinvar/316589 ^@ NM_182758.3(WDR72):c.2341A>G (p.Lys781Glu) http://identifiers.org/clinvar/315639 ^@ NM_018648.3(NOP10):c.6delT (p.Leu3Serfs) http://identifiers.org/clinvar/315839 ^@ NM_144508.4(KNL1):c.-55G>A http://identifiers.org/clinvar/315889 ^@ NM_000070.2(CAPN3):c.-131G>T http://identifiers.org/clinvar/315939 ^@ NM_138477.2(CDAN1):c.2016G>A (p.Pro672=) http://identifiers.org/clinvar/316089 ^@ NM_025137.3(SPG11):c.5407C>T (p.Leu1803=) http://identifiers.org/clinvar/316339 ^@ NM_000138.4(FBN1):c.*1252A>G http://identifiers.org/clinvar/371834 ^@ NM_004168.3(SDHA):c.1664-24delT http://identifiers.org/clinvar/372034 ^@ NM_000077.4(CDKN2A):c.150+1104C>T http://identifiers.org/clinvar/372084 ^@ NM_020975.4(RET):c.1648+24G>A http://identifiers.org/clinvar/371884 ^@ NM_006231.3(POLE):c.4149+12C>G http://identifiers.org/clinvar/371934 ^@ NM_000546.5(TP53):c.97-28T>A http://identifiers.org/clinvar/372141 ^@ NM_001309444.1(SPARC):c.787G>A (p.Glu263Lys) http://identifiers.org/clinvar/372208 ^@ NM_014339.6(IL17RA):c.769_773delCCAGA (p.Pro257Argfs) http://identifiers.org/clinvar/372267 ^@ NM_001098802.1(CEP78):c.633delC (p.Trp212Glyfs) http://identifiers.org/clinvar/373040 ^@ NM_002977.3(SCN9A):c.2108G>A (p.Trp703Ter) http://identifiers.org/clinvar/372370 ^@ NM_000404.3(GLB1):c.396+2T>C http://identifiers.org/clinvar/372887 ^@ NM_001282534.1(KCNK9):c.392G>A (p.Arg131His) http://identifiers.org/clinvar/372836 ^@ NM_078480.2(PUF60):c.1183_1187delCCCTC (p.Pro395Glyfs) http://identifiers.org/clinvar/372320 ^@ NM_017780.3(CHD7):c.5315G>A (p.Trp1772Ter) http://identifiers.org/clinvar/372421 ^@ NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp) http://identifiers.org/clinvar/372476 ^@ NM_002734.4(PRKAR1A):c.1122_1123delCA (p.Asn374Lysfs) http://identifiers.org/clinvar/372529 ^@ NM_003244.3(TGIF1):c.269G>A (p.Arg90His) http://identifiers.org/clinvar/372940 ^@ NM_030662.3(MAP2K2):c.1039A>G (p.Asn347Asp) http://identifiers.org/clinvar/372990 ^@ NM_020461.3(TUBGCP6):c.3893dupC (p.Gly1299Trpfs) http://identifiers.org/clinvar/382487 ^@ NM_000251.2(MSH2):c.1842A>C (p.Gly614=) http://identifiers.org/clinvar/386330 ^@ NM_000090.3(COL3A1):c.18A>G (p.Gln6=) http://identifiers.org/clinvar/389519 ^@ NM_000179.2(MSH6):c.846G>A (p.Val282=) http://identifiers.org/clinvar/378295 ^@ NM_001135659.2(NRXN1):c.3348C>A (p.Ile1116=) http://identifiers.org/clinvar/393268 ^@ NM_080916.2(DGUOK):c.443+1G>A http://identifiers.org/clinvar/382788 ^@ NM_015929.3(LIPT1):c.-143C>T http://identifiers.org/clinvar/393068 ^@ NM_053025.3(MYLK):c.2183G>A (p.Arg728His) http://identifiers.org/clinvar/389019 ^@ NM_000182.4(HADHA):c.1788G>A (p.Ala596=) http://identifiers.org/clinvar/386930 ^@ NM_182916.2(TRNT1):c.-50C>T http://identifiers.org/clinvar/378345 ^@ NM_000925.3(PDHB):c.204+9A>C http://identifiers.org/clinvar/378145 ^@ NM_000249.3(MLH1):c.2034A>G (p.Lys678=) http://identifiers.org/clinvar/382186 ^@ NM_198056.2(SCN5A):c.6030G>A (p.Arg2010=) http://identifiers.org/clinvar/378551 ^@ NM_198056.2(SCN5A):c.5175G>A (p.Pro1725=) http://identifiers.org/clinvar/380795 ^@ NM_024582.4(FAT4):c.7701G>C (p.Val2567=) http://identifiers.org/clinvar/389469 ^@ NM_153717.2(EVC):c.945A>G (p.Glu315=) http://identifiers.org/clinvar/388819 ^@ NM_001135659.2(NRXN1):c.3191-17C>G http://identifiers.org/clinvar/388519 ^@ NM_005506.3(SCARB2):c.275+14A>G http://identifiers.org/clinvar/378500 ^@ NM_005506.3(SCARB2):c.-27C>G http://identifiers.org/clinvar/385630 ^@ NM_001135659.2(NRXN1):c.1880-8T>C http://identifiers.org/clinvar/382086 ^@ NM_052859.3(RFT1):c.258G>A (p.Leu86=) http://identifiers.org/clinvar/377493 ^@ NM_000038.5(APC):c.4413A>G (p.Ala1471=) http://identifiers.org/clinvar/393018 ^@ NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) http://identifiers.org/clinvar/383740 ^@ NM_000142.4(FGFR3):c.1205C>G (p.Pro402Arg) http://identifiers.org/clinvar/381046 ^@ NM_014476.5(PDLIM3):c.398+18T>A http://identifiers.org/clinvar/382838 ^@ NM_000038.5(APC):c.684A>T (p.Ile228=) http://identifiers.org/clinvar/382237 ^@ NM_025265.3(TSEN2):c.627C>T (p.Ser209=) http://identifiers.org/clinvar/388119 ^@ NM_001182.4(ALDH7A1):c.1276A>G (p.Thr426Ala) http://identifiers.org/clinvar/380293 ^@ NM_024996.5(GFM1):c.1909+13C>G http://identifiers.org/clinvar/388619 ^@ NM_002290.4(LAMA4):c.3825C>T (p.Phe1275=) http://identifiers.org/clinvar/381146 ^@ NM_004415.3(DSP):c.1557C>T (p.Ala519=) http://identifiers.org/clinvar/387380 ^@ NM_000248.3(MITF):c.637G>C (p.Glu213Gln) http://identifiers.org/clinvar/388219 ^@ NM_000426.3(LAMA2):c.8357+19C>T http://identifiers.org/clinvar/383840 ^@ NM_005431.1(XRCC2):c.720T>C (p.Phe240=) http://identifiers.org/clinvar/389369 ^@ NM_002291.2(LAMB1):c.5268T>C (p.Asp1756=) http://identifiers.org/clinvar/386280 ^@ NM_006005.3(WFS1):c.69G>A (p.Ala23=) http://identifiers.org/clinvar/380243 ^@ NM_000535.6(PMS2):c.720T>A (p.Ile240=) http://identifiers.org/clinvar/380996 ^@ NM_004415.3(DSP):c.1095C>G (p.Thr365=) http://identifiers.org/clinvar/384190 ^@ NM_000038.5(APC):c.1158A>G (p.Ala386=) http://identifiers.org/clinvar/382988 ^@ NM_000443.3(ABCB4):c.2325G>C (p.Thr775=) http://identifiers.org/clinvar/392768 ^@ NM_004415.3(DSP):c.5846C>T (p.Ser1949Phe) http://identifiers.org/clinvar/389069 ^@ NM_000445.4(PLEC):c.9152A>G (p.Asn3051Ser) http://identifiers.org/clinvar/389969 ^@ NM_000739.2(CHRM2):c.-64C>G http://identifiers.org/clinvar/386180 ^@ NM_024790.6(CSPP1):c.159C>T (p.Ala53=) http://identifiers.org/clinvar/387430 ^@ NM_000238.3(KCNH2):c.3097C>A (p.Arg1033=) http://identifiers.org/clinvar/390069 ^@ NM_000443.3(ABCB4):c.2394+13G>A http://identifiers.org/clinvar/383539 ^@ NM_198428.2(BBS9):c.2258A>T (p.Glu753Val) http://identifiers.org/clinvar/384541 ^@ NM_001003722.1(GLE1):c.2084T>C (p.Phe695Ser) http://identifiers.org/clinvar/382337 ^@ NM_000742.3(CHRNA2):c.449+9C>G http://identifiers.org/clinvar/389269 ^@ NM_003165.3(STXBP1):c.1642A>G (p.Asn548Asp) http://identifiers.org/clinvar/378651 ^@ NM_001130438.2(SPTAN1):c.1324-13C>G http://identifiers.org/clinvar/377793 ^@ NM_203447.3(DOCK8):c.267C>T (p.Asp89=) http://identifiers.org/clinvar/392618 ^@ NM_019105.6(TNXB):c.5084C>T (p.Thr1695Met) http://identifiers.org/clinvar/383088 ^@ NM_032634.3(PIGO):c.939+12G>C http://identifiers.org/clinvar/386680 ^@ NM_001130438.2(SPTAN1):c.1968G>A (p.Val656=) http://identifiers.org/clinvar/380845 ^@ NM_002291.2(LAMB1):c.4640T>C (p.Ile1547Thr) http://identifiers.org/clinvar/184165 ^@ NM_001042492.2(NF1):c.7246C>T (p.Leu2416=) http://identifiers.org/clinvar/184815 ^@ NM_002878.3(RAD51D):c.39C>G (p.Thr13=) http://identifiers.org/clinvar/184015 ^@ NM_007294.3(BRCA1):c.4209C>T (p.Asn1403=) http://identifiers.org/clinvar/184215 ^@ NM_007294.3(BRCA1):c.1242C>T (p.Asp414=) http://identifiers.org/clinvar/185954 ^@ NM_032043.2(BRIP1):c.1717C>G (p.Leu573Val) http://identifiers.org/clinvar/188719 ^@ NM_000016.5(ACADM):c.387+1delG http://identifiers.org/clinvar/188819 ^@ NM_000642.2(AGL):c.3297G>A (p.Trp1099Ter) http://identifiers.org/clinvar/188870 ^@ NM_000057.3(BLM):c.991_995delAAAGA (p.Lys331Glyfs) http://identifiers.org/clinvar/188769 ^@ NM_000271.4(NPC1):c.3175C>T (p.Arg1059Ter) http://identifiers.org/clinvar/242616 ^@ NM_006785.3(MALT1):c.1060delC (p.Arg354Glyfs) http://identifiers.org/clinvar/189833 ^@ LIPT1, SER292TER http://identifiers.org/clinvar/189884 ^@ NM_001165963.1(SCN1A):c.3455C>A (p.Ser1152Ter) http://identifiers.org/clinvar/189984 ^@ NM_001165963.1(SCN1A):c.2678T>A (p.Leu893Ter) http://identifiers.org/clinvar/189934 ^@ NM_001165963.1(SCN1A):c.769T>C (p.Cys257Arg) http://identifiers.org/clinvar/190035 ^@ NC_000005.9:g.(?_9129755)_(9257708_?)del http://identifiers.org/clinvar/190169 ^@ NM_000124.3(ERCC6):c.3612_3613insT (p.Lys1205Terfs) http://identifiers.org/clinvar/190220 ^@ NM_001008537.2(KIAA2022):c.1882C>T (p.Arg628Ter) http://identifiers.org/clinvar/190353 ^@ NM_002055.4(GFAP):c.1047_1048insCACTTG (p.Tyr349_Gln350insHisLeu) http://identifiers.org/clinvar/227244 ^@ NM_000492.3(CFTR):c.1680-871A>G http://identifiers.org/clinvar/227876 ^@ NM_016203.3(PRKAG2):c.1449T>C (p.Ala483=) http://identifiers.org/clinvar/226743 ^@ NM_001018116.2(CAVIN4):c.996G>A (p.Arg332=) http://identifiers.org/clinvar/227295 ^@ NM_015404.3(WHRN):c.995G>A (p.Arg332Gln) http://identifiers.org/clinvar/227495 ^@ NM_001080116.1(LDB3):c.327A>G (p.Val109=) http://identifiers.org/clinvar/227094 ^@ NM_005422.2(TECTA):c.4315C>A (p.Leu1439Ile) http://identifiers.org/clinvar/226893 ^@ NM_001277269.1(OTOG):c.421+7C>T http://identifiers.org/clinvar/227775 ^@ NM_001277269.1(OTOG):c.3396A>G (p.Leu1132=) http://identifiers.org/clinvar/227445 ^@ NM_004517.3(ILK):c.857-12G>A http://identifiers.org/clinvar/228426 ^@ NM_005691.3(ABCC9):c.4591C>T (p.Pro1531Ser) http://identifiers.org/clinvar/226793 ^@ NM_005379.3(MYO1A):c.2406C>T (p.Asp802=) http://identifiers.org/clinvar/226943 ^@ NM_173591.3(OTOGL):c.3453T>C (p.Cys1151=) http://identifiers.org/clinvar/227825 ^@ NM_173591.3(OTOGL):c.6202T>G (p.Cys2068Gly) http://identifiers.org/clinvar/227976 ^@ NM_001199107.1(TBC1D24):c.1142+14G>A http://identifiers.org/clinvar/227575 ^@ NM_001145809.1(MYH14):c.1995G>A (p.Ser665=) http://identifiers.org/clinvar/230317 ^@ NM_000249.3(MLH1):c.991G>A (p.Glu331Lys) http://identifiers.org/clinvar/230617 ^@ NM_001128425.1(MUTYH):c.141G>A (p.Lys47=) http://identifiers.org/clinvar/230367 ^@ NM_000465.3(BARD1):c.2150T>A (p.Ile717Asn) http://identifiers.org/clinvar/232807 ^@ NM_000251.2(MSH2):c.200T>A (p.Met67Lys) http://identifiers.org/clinvar/232406 ^@ NM_000251.2(MSH2):c.266T>C (p.Val89Ala) http://identifiers.org/clinvar/231656 ^@ NM_000251.2(MSH2):c.1962C>G (p.Asp654Glu) http://identifiers.org/clinvar/232707 ^@ NM_000251.2(MSH2):c.2282G>T (p.Gly761Val) http://identifiers.org/clinvar/233257 ^@ NM_000251.2(MSH2):c.2366C>T (p.Ala789Val) http://identifiers.org/clinvar/230117 ^@ NM_000179.2(MSH6):c.3079G>C (p.Val1027Leu) http://identifiers.org/clinvar/229917 ^@ NM_000249.3(MLH1):c.-334C>T http://identifiers.org/clinvar/231906 ^@ NM_000249.3(MLH1):c.-218T>C http://identifiers.org/clinvar/231556 ^@ NM_000249.3(MLH1):c.1594G>T (p.Gly532Cys) http://identifiers.org/clinvar/263992 ^@ NM_002474.2(MYH11):c.4000G>C (p.Val1334Leu) http://identifiers.org/clinvar/264192 ^@ NM_024422.4(DSC2):c.697A>G (p.Ile233Val) http://identifiers.org/clinvar/264242 ^@ NM_001943.4(DSG2):c.967A>G (p.Ile323Val) http://identifiers.org/clinvar/263389 ^@ NM_000071.2(CBS):c.1563C>T (p.Thr521=) http://identifiers.org/clinvar/263439 ^@ NM_133378.4:c.86951_86953delGGA http://identifiers.org/clinvar/264653 ^@ NM_001204.6(BMPR2):c.1469C>T (p.Ala490Val) http://identifiers.org/clinvar/264713 ^@ NM_001242896.1(DEPDC5):c.132dupC (p.Asn45GlnfsTer3) http://identifiers.org/clinvar/264763 ^@ NM_001242896.1(DEPDC5):c.3461C>T (p.Ser1154Phe) http://identifiers.org/clinvar/264868 ^@ NM_000059.3(BRCA2):c.7008-705A>G http://identifiers.org/clinvar/264968 ^@ NM_000059.3(BRCA2):c.7617+190G>A http://identifiers.org/clinvar/264918 ^@ NM_000059.3(BRCA2):c.9257-5725T>G http://identifiers.org/clinvar/264818 ^@ NM_007294.3(BRCA1):c.4357+651A>G http://identifiers.org/clinvar/265073 ^@ NM_001080522.2(CC2D2A):c.4533G>C (p.Trp1511Cys) http://identifiers.org/clinvar/265173 ^@ NM_000161.2(GCH1):c.631_632delAT (p.Met211Valfs) http://identifiers.org/clinvar/265123 ^@ NM_000126.3(ETFA):c.625C>T (p.Arg209Ter) http://identifiers.org/clinvar/265020 ^@ NM_001171.5(ABCC6):c.3398G>C (p.Gly1133Ala) http://identifiers.org/clinvar/265225 ^@ NM_000425.4(L1CAM):c.2092G>A (p.Gly698Arg) http://identifiers.org/clinvar/267986 ^@ 46;XX;inv(13)(q21.2q32.3) http://identifiers.org/clinvar/268036 ^@ 46;XX;t(2;10)(q22;22.3)dn http://identifiers.org/clinvar/268100 ^@ NM_006578.3(GNB5):c.249+1G>T http://identifiers.org/clinvar/268156 ^@ NM_001005463.2(EBF3):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/291897 ^@ NM_013319.2(UBIAD1):c.*1459T>A http://identifiers.org/clinvar/291697 ^@ NM_013296.4(GPSM2):c.-306C>A http://identifiers.org/clinvar/291947 ^@ NM_002524.4(NRAS):c.*2860G>A http://identifiers.org/clinvar/291797 ^@ NM_006610.3(MASP2):c.612G>T (p.Pro204=) http://identifiers.org/clinvar/291647 ^@ NM_015074.3(KIF1B):c.*3697A>C http://identifiers.org/clinvar/291997 ^@ NM_138959.2(VANGL1):c.-226G>C http://identifiers.org/clinvar/292047 ^@ NM_138959.2(VANGL1):c.*2107A>G http://identifiers.org/clinvar/291747 ^@ NM_007375.3(TARDBP):c.*842G>A http://identifiers.org/clinvar/291847 ^@ NM_003051.3(SLC16A1):c.*145T>G http://identifiers.org/clinvar/292147 ^@ NM_001232.3(CASQ2):c.-234C>A http://identifiers.org/clinvar/292297 ^@ NM_006623.3(PHGDH):c.-207G>A http://identifiers.org/clinvar/292097 ^@ NM_138959.2(VANGL1):c.*5841A>T http://identifiers.org/clinvar/292447 ^@ NM_005266.6(GJA5):c.1068A>G (p.Leu356=) http://identifiers.org/clinvar/292347 ^@ NM_005518.3(HMGCS2):c.-11C>T http://identifiers.org/clinvar/292197 ^@ NM_005957.4(MTHFR):c.*2456G>A http://identifiers.org/clinvar/292247 ^@ NM_005957.4(MTHFR):c.-15G>A http://identifiers.org/clinvar/293236 ^@ NM_002857.3(PEX19):c.-14T>G http://identifiers.org/clinvar/292397 ^@ NM_014874.3(MFN2):c.*1068C>T http://identifiers.org/clinvar/293836 ^@ NM_000488.3(SERPINC1):c.1096C>G (p.Gln366Glu) http://identifiers.org/clinvar/293786 ^@ NM_022089.3(ATP13A2):c.1947C>G (p.Pro649=) http://identifiers.org/clinvar/293736 ^@ NM_000639.2(FASLG):c.364C>A (p.His122Asn) http://identifiers.org/clinvar/293986 ^@ NM_005562.2(LAMC2):c.80-6C>T http://identifiers.org/clinvar/293886 ^@ NM_002065.6(GLUL):c.*2516A>G http://identifiers.org/clinvar/294036 ^@ NM_005562.2(LAMC2):c.*875G>T http://identifiers.org/clinvar/293286 ^@ NM_004550.4(NDUFS2):c.*106_*107delGT http://identifiers.org/clinvar/294236 ^@ NM_031935.2(HMCN1):c.11915C>T (p.Ala3972Val) http://identifiers.org/clinvar/294286 ^@ NM_031935.2(HMCN1):c.15260A>T (p.Asp5087Val) http://identifiers.org/clinvar/294386 ^@ NM_003748.3(ALDH4A1):c.584C>T (p.Thr195Met) http://identifiers.org/clinvar/294636 ^@ NM_018136.4(ASPM):c.3742-12G>C http://identifiers.org/clinvar/294786 ^@ NM_000069.2(CACNA1S):c.152+14C>T http://identifiers.org/clinvar/294936 ^@ NM_003465.2(CHIT1):c.169G>A (p.Ala57Thr) http://identifiers.org/clinvar/293936 ^@ NM_002065.6(GLUL):c.*272C>G http://identifiers.org/clinvar/295086 ^@ NM_000228.2(LAMB3):c.2556+13G>A http://identifiers.org/clinvar/295136 ^@ NM_000228.2(LAMB3):c.564+10G>A http://identifiers.org/clinvar/343528 ^@ NM_024334.2(TMEM43):c.*1028A>G http://identifiers.org/clinvar/336131 ^@ NM_133259.3(LRPPRC):c.*825A>G http://identifiers.org/clinvar/345267 ^@ NM_016006.4(ABHD5):c.*2718delT http://identifiers.org/clinvar/344467 ^@ NM_006580.3(CLDN16):c.*1333A>G http://identifiers.org/clinvar/345717 ^@ NM_002222.5(ITPR1):c.2790G>A (p.Met930Ile) http://identifiers.org/clinvar/344967 ^@ NM_001106.3(ACVR2B):c.*2392T>C http://identifiers.org/clinvar/345867 ^@ NM_000094.3(COL7A1):c.2146A>G (p.Arg716Gly) http://identifiers.org/clinvar/346017 ^@ NM_002292.3(LAMB2):c.-200C>T http://identifiers.org/clinvar/345167 ^@ NM_018075.4(ANO10):c.*372G>T http://identifiers.org/clinvar/345217 ^@ NM_016006.4(ABHD5):c.228T>G (p.Thr76=) http://identifiers.org/clinvar/346217 ^@ NM_003392.4(WNT5A):c.*3577G>A http://identifiers.org/clinvar/346267 ^@ NM_003392.4(WNT5A):c.807G>A (p.Lys269=) http://identifiers.org/clinvar/346317 ^@ NM_001457.3(FLNB):c.2035C>T (p.Pro679Ser) http://identifiers.org/clinvar/345567 ^@ NM_000258.2(MYL3):c.*205C>A http://identifiers.org/clinvar/345617 ^@ NM_015175.2(NBEAL2):c.544G>A (p.Ala182Thr) http://identifiers.org/clinvar/342428 ^@ NM_000551.3(VHL):c.*1207G>A http://identifiers.org/clinvar/342528 ^@ NM_198196.2(CD96):c.840G>A (p.Thr280=) http://identifiers.org/clinvar/345917 ^@ NM_002222.5(ITPR1):c.*1183_*1184dupAA http://identifiers.org/clinvar/342678 ^@ NM_020754.3(ARHGAP31):c.*38T>G http://identifiers.org/clinvar/345817 ^@ NM_000094.3(COL7A1):c.6619-12G>T http://identifiers.org/clinvar/342728 ^@ NM_020754.3(ARHGAP31):c.*2912A>G http://identifiers.org/clinvar/347206 ^@ NM_198506.4(LRIT3):c.*684A>G http://identifiers.org/clinvar/342778 ^@ NM_001023570.3(IQCB1):c.823A>G (p.Arg275Gly) http://identifiers.org/clinvar/345967 ^@ NM_199069.1(NDUFAF3):c.551A>G (p.Gln184Arg) http://identifiers.org/clinvar/347356 ^@ NM_001148.4(ANK2):c.*635G>T http://identifiers.org/clinvar/342828 ^@ NM_053025.3(MYLK):c.*1538A>G http://identifiers.org/clinvar/342978 ^@ NM_000373.3(UMPS):c.*2632C>A http://identifiers.org/clinvar/342878 ^@ NM_053025.3(MYLK):c.3915C>T (p.Cys1305=) http://identifiers.org/clinvar/343078 ^@ NM_025265.3(TSEN2):c.961-14G>A http://identifiers.org/clinvar/347606 ^@ NM_172250.2(MMAA):c.1078C>T (p.Arg360Trp) http://identifiers.org/clinvar/343178 ^@ NM_004637.5(RAB7A):c.*997delT http://identifiers.org/clinvar/347706 ^@ NM_000901.4(NR3C2):c.*890T>G http://identifiers.org/clinvar/346367 ^@ NM_001457.3(FLNB):c.7534G>A (p.Ala2512Thr) http://identifiers.org/clinvar/343128 ^@ NM_032638.4(GATA2):c.*190C>T http://identifiers.org/clinvar/347856 ^@ NM_004744.4(LRAT):c.*329T>C http://identifiers.org/clinvar/343478 ^@ NM_000532.4(PCCB):c.1452A>G (p.Ala484=) http://identifiers.org/clinvar/347956 ^@ NM_004453.3(ETFDH):c.63T>C (p.Ile21=) http://identifiers.org/clinvar/348056 ^@ NM_001166108.1(PALLD):c.*1011_*1014dupATCA http://identifiers.org/clinvar/343378 ^@ NM_153240.4(NPHP3):c.3126-4dupT http://identifiers.org/clinvar/343628 ^@ NM_001184.3(ATR):c.190A>G (p.Thr64Ala) http://identifiers.org/clinvar/348256 ^@ NM_001151.3(SLC25A4):c.*512A>G http://identifiers.org/clinvar/343578 ^@ NM_004628.4(XPC):c.262A>G (p.Ile88Val) http://identifiers.org/clinvar/358173 ^@ NM_183050.3(BCKDHB):c.*83C>T http://identifiers.org/clinvar/353594 ^@ NM_002310.5(LIFR):c.*984T>C http://identifiers.org/clinvar/358523 ^@ NM_000441.1(SLC26A4):c.*1640G>T http://identifiers.org/clinvar/358573 ^@ NM_000108.4(DLD):c.*28G>T http://identifiers.org/clinvar/359023 ^@ NM_020632.2(ATP6V0A4):c.945C>T (p.Asp315=) http://identifiers.org/clinvar/363521 ^@ NM_024596.4(MCPH1):c.605A>G (p.His202Arg) http://identifiers.org/clinvar/363571 ^@ NM_024596.4(MCPH1):c.*412C>T http://identifiers.org/clinvar/355384 ^@ NM_006208.2(ENPP1):c.*1236G>T http://identifiers.org/clinvar/355434 ^@ NM_006208.2(ENPP1):c.*4641A>G http://identifiers.org/clinvar/363771 ^@ NM_000318.2(PEX2):c.*2787G>A http://identifiers.org/clinvar/355584 ^@ NM_003630.2(PEX3):c.*424T>C http://identifiers.org/clinvar/363971 ^@ NM_018444.3(PDP1):c.*1736G>C http://identifiers.org/clinvar/359962 ^@ NM_005522.4(HOXA1):c.436C>A (p.His146Asn) http://identifiers.org/clinvar/355684 ^@ NM_203395.2(IYD):c.*61C>T http://identifiers.org/clinvar/355734 ^@ NM_203395.2(IYD):c.*2358delA http://identifiers.org/clinvar/355534 ^@ NM_000288.3(PEX7):c.748-10T>C http://identifiers.org/clinvar/355634 ^@ NM_003764.3(STX11):c.*2216A>G http://identifiers.org/clinvar/360412 ^@ NM_014855.2(AP5Z1):c.*2642T>G http://identifiers.org/clinvar/360462 ^@ NM_005228.4(EGFR):c.1880+11A>C http://identifiers.org/clinvar/360512 ^@ NM_004577.3(PSPH):c.120T>A (p.Val40=) http://identifiers.org/clinvar/355834 ^@ NM_033071.3(SYNE1):c.20982+12A>G http://identifiers.org/clinvar/364821 ^@ NM_000177.4(GSN):c.1716C>T (p.Ser572=) http://identifiers.org/clinvar/355884 ^@ NM_033071.3(SYNE1):c.11843C>A (p.Ala3948Glu) http://identifiers.org/clinvar/364921 ^@ NM_002316.3(LMX1B):c.*1304G>A http://identifiers.org/clinvar/355934 ^@ NM_033071.3(SYNE1):c.2416G>A (p.Val806Ile) http://identifiers.org/clinvar/360712 ^@ NM_000941.2(POR):c.1521C>T (p.Gly507=) http://identifiers.org/clinvar/356084 ^@ NM_000367.4(TPMT):c.*2240A>T http://identifiers.org/clinvar/360812 ^@ NM_005751.4(AKAP9):c.-105C>T http://identifiers.org/clinvar/356134 ^@ NM_001080.3(ALDH5A1):c.726+3G>A http://identifiers.org/clinvar/360862 ^@ NM_194456.1(KRIT1):c.*1702A>G http://identifiers.org/clinvar/356184 ^@ NM_001080.3(ALDH5A1):c.*2720C>A http://identifiers.org/clinvar/356234 ^@ NM_000434.3(NEU1):c.474T>G (p.Cys158Trp) http://identifiers.org/clinvar/356284 ^@ NM_001710.5(CFB):c.1137C>T (p.Arg379=) http://identifiers.org/clinvar/356334 ^@ NM_006929.4(SKIV2L):c.2165G>A (p.Arg722Gln) http://identifiers.org/clinvar/365760 ^@ NM_000093.4(COL5A1):c.*733C>A http://identifiers.org/clinvar/366211 ^@ NM_003070.4(SMARCA2):c.2349-3T>C http://identifiers.org/clinvar/366661 ^@ NM_001497.3(B4GALT1):c.412+11G>T http://identifiers.org/clinvar/366761 ^@ NM_032634.3(PIGO):c.626A>G (p.Asn209Ser) http://identifiers.org/clinvar/366811 ^@ NM_005476.5(GNE):c.*1781G>A http://identifiers.org/clinvar/303463 ^@ NM_016952.4(CDON):c.*1332T>G http://identifiers.org/clinvar/366961 ^@ NM_203447.3(DOCK8):c.2937C>G (p.Val979=) http://identifiers.org/clinvar/364071 ^@ NM_014290.2(TDRD7):c.1923G>A (p.Lys641=) http://identifiers.org/clinvar/364171 ^@ NM_004612.3(TGFBR1):c.*3567G>A http://identifiers.org/clinvar/298714 ^@ NM_000494.3(COL17A1):c.2371G>A (p.Gly791Ser) http://identifiers.org/clinvar/304302 ^@ NM_000280.4(PAX6):c.*3908C>T http://identifiers.org/clinvar/298814 ^@ NM_001134363.2(RBM20):c.*512G>T http://identifiers.org/clinvar/364121 ^@ NM_004612.3(TGFBR1):c.*1659T>C http://identifiers.org/clinvar/304452 ^@ NM_003477.2(PDHX):c.-271G>T http://identifiers.org/clinvar/299114 ^@ NM_001609.3(ACADSB):c.*1543G>T http://identifiers.org/clinvar/304802 ^@ NM_004813.2(PEX16):c.-279G>A http://identifiers.org/clinvar/299464 ^@ NM_001081.3(CUBN):c.5305G>A (p.Val1769Ile) http://identifiers.org/clinvar/299014 ^@ NM_000141.4(FGFR2):c.-129C>T http://identifiers.org/clinvar/299064 ^@ NM_001609.3(ACADSB):c.-89G>T http://identifiers.org/clinvar/305154 ^@ NM_000327.3(ROM1):c.-482G>C http://identifiers.org/clinvar/299664 ^@ NM_017433.4(MYO3A):c.2854A>C (p.Ile952Leu) http://identifiers.org/clinvar/299714 ^@ NM_014915.2(ANKRD26):c.*1170G>A http://identifiers.org/clinvar/299264 ^@ NM_006214.3(PHYH):c.-78G>T http://identifiers.org/clinvar/299814 ^@ NM_021252.4(RAB18):c.36C>A (p.Leu12=) http://identifiers.org/clinvar/305504 ^@ NM_000391.3(TPP1):c.*71G>A http://identifiers.org/clinvar/305554 ^@ NM_006946.2(SPTBN2):c.4714C>T (p.Arg1572Cys) http://identifiers.org/clinvar/299614 ^@ NM_201590.2(CACNB2):c.*1611G>A http://identifiers.org/clinvar/299764 ^@ NM_014915.2(ANKRD26):c.101C>T (p.Ala34Val) http://identifiers.org/clinvar/315589 ^@ NM_133647.1(SLC12A6):c.*1234A>G http://identifiers.org/clinvar/315789 ^@ NM_152594.2(SPRED1):c.*5110C>T http://identifiers.org/clinvar/329262 ^@ NM_181882.2(PRX):c.2775C>T (p.Val925=) http://identifiers.org/clinvar/311101 ^@ NM_001846.3(COL4A2):c.415G>A (p.Gly139Arg) http://identifiers.org/clinvar/309746 ^@ NM_015665.5(AAAS):c.-130C>T http://identifiers.org/clinvar/317829 ^@ NM_005236.2(ERCC4):c.*384A>G http://identifiers.org/clinvar/309996 ^@ NM_000785.3(CYP27B1):c.1385A>T (p.Glu462Val) http://identifiers.org/clinvar/310046 ^@ NM_000552.4(VWF):c.6931C>T (p.Arg2311Cys) http://identifiers.org/clinvar/318281 ^@ NM_003361.3(UMOD):c.*59G>A http://identifiers.org/clinvar/310146 ^@ NM_001038.5(SCNN1A):c.876-13C>T http://identifiers.org/clinvar/318431 ^@ NM_001089.2(ABCA3):c.2796G>A (p.Val932=) http://identifiers.org/clinvar/318381 ^@ NM_001039.3(SCNN1G):c.*1370G>A http://identifiers.org/clinvar/310246 ^@ NM_014319.4(LEMD3):c.*576A>G http://identifiers.org/clinvar/318581 ^@ NM_001089.2(ABCA3):c.-67C>T http://identifiers.org/clinvar/318631 ^@ NM_020705.2(TBC1D24):c.*535C>T http://identifiers.org/clinvar/310396 ^@ NM_173353.3(TPH2):c.*424C>T http://identifiers.org/clinvar/310446 ^@ NM_001131025.1(PEX5):c.*462G>C http://identifiers.org/clinvar/318731 ^@ NM_001042432.1(CLN3):c.-264C>G http://identifiers.org/clinvar/318781 ^@ NM_173201.3(ATP2A1):c.1941G>A (p.Glu647=) http://identifiers.org/clinvar/318931 ^@ NM_000294.2(PHKG2):c.21G>A (p.Pro7=) http://identifiers.org/clinvar/319231 ^@ NM_032575.2(GLIS2):c.*54C>T http://identifiers.org/clinvar/310901 ^@ NM_004115.3(FGF14):c.384T>C (p.Asn128=) http://identifiers.org/clinvar/311051 ^@ NM_001845.5(COL4A1):c.2647G>A (p.Val883Ile) http://identifiers.org/clinvar/312540 ^@ NM_005708.4(GPC6):c.585C>T (p.Asp195=) http://identifiers.org/clinvar/311151 ^@ NM_001846.3(COL4A2):c.2588-11C>T http://identifiers.org/clinvar/312640 ^@ NM_001376.4(DYNC1H1):c.8178-12A>T http://identifiers.org/clinvar/319682 ^@ NM_001080432.2(FTO):c.487G>A (p.Ala163Thr) http://identifiers.org/clinvar/338899 ^@ NM_002591.3(PCK1):c.*202G>A http://identifiers.org/clinvar/320371 ^@ NM_015386.2(COG4):c.1605A>C (p.Thr535=) http://identifiers.org/clinvar/338949 ^@ NM_004738.4(VAPB):c.*1413C>G http://identifiers.org/clinvar/339049 ^@ NM_001001433.2(STX16):c.456G>T (p.Glu152Asp) http://identifiers.org/clinvar/321271 ^@ NM_000303.2(PMM2):c.*1348A>G http://identifiers.org/clinvar/339838 ^@ NM_001754.4(RUNX1):c.*2193delG http://identifiers.org/clinvar/339888 ^@ NM_144492.2(CLDN14):c.522G>A (p.Ser174=) http://identifiers.org/clinvar/339938 ^@ NM_000411.6(HLCS):c.*1597_*1600delCAAA http://identifiers.org/clinvar/339988 ^@ NM_020639.2(RIPK4):c.*1081C>T http://identifiers.org/clinvar/321471 ^@ NM_000833.4(GRIN2A):c.*8535A>C http://identifiers.org/clinvar/340138 ^@ NM_000211.4(ITGB2):c.2210G>A (p.Arg737His) http://identifiers.org/clinvar/340188 ^@ NM_000211.4(ITGB2):c.-104C>T http://identifiers.org/clinvar/340388 ^@ NM_001849.3(COL6A2):c.3003C>A (p.Asp1001Glu) http://identifiers.org/clinvar/326473 ^@ NM_001943.4(DSG2):c.164C>T (p.Pro55Leu) http://identifiers.org/clinvar/326523 ^@ NM_001943.4(DSG2):c.*1012C>T http://identifiers.org/clinvar/367929 ^@ NM_004840.2(ARHGEF6):c.*938A>C http://identifiers.org/clinvar/326973 ^@ NM_001080467.2(MYO5B):c.*1142A>C http://identifiers.org/clinvar/328712 ^@ NM_001031726.3(C19orf12):c.*1020C>A http://identifiers.org/clinvar/328762 ^@ NM_014270.4(SLC7A9):c.411T>C (p.Cys137=) http://identifiers.org/clinvar/328812 ^@ NM_000285.3(PEPD):c.660T>C (p.Tyr220=) http://identifiers.org/clinvar/327123 ^@ NM_005359.5(SMAD4):c.*1169_*1173delCCATC http://identifiers.org/clinvar/328912 ^@ NM_001083961.1(WDR62):c.1489G>A (p.Val497Ile) http://identifiers.org/clinvar/328962 ^@ NM_032753.3(RAX2):c.*191C>T http://identifiers.org/clinvar/329062 ^@ NM_000540.2(RYR1):c.7422G>A (p.Leu2474=) http://identifiers.org/clinvar/327373 ^@ NM_000140.3(FECH):c.*2526T>C http://identifiers.org/clinvar/329212 ^@ NM_017827.3(SARS2):c.1160+4T>C http://identifiers.org/clinvar/368429 ^@ NM_007137.3(ZNF81):c.*2988G>A http://identifiers.org/clinvar/327423 ^@ NM_000140.3(FECH):c.*55C>T http://identifiers.org/clinvar/329312 ^@ NM_003573.2(LTBP4):c.1924C>G (p.Pro642Ala) http://identifiers.org/clinvar/368529 ^@ NM_000084.4(CLCN5):c.*5956T>C http://identifiers.org/clinvar/329462 ^@ NM_000483.4(APOC2):c.*236C>T http://identifiers.org/clinvar/327673 ^@ NM_133459.3(CCBE1):c.*1421C>A http://identifiers.org/clinvar/368729 ^@ NM_153252.4(BRWD3):c.-229_-228dupCC http://identifiers.org/clinvar/329662 ^@ NM_025136.3(OPA3):c.*1091C>G http://identifiers.org/clinvar/327873 ^@ NM_021074.4(NDUFV2):c.-83C>T http://identifiers.org/clinvar/329862 ^@ NM_017636.3(TRPM4):c.2231A>T (p.Lys744Met) http://identifiers.org/clinvar/329962 ^@ NM_024729.3(MYH14):c.*337C>T http://identifiers.org/clinvar/329112 ^@ NM_000540.2(RYR1):c.12084G>T (p.Ser4028=) http://identifiers.org/clinvar/329162 ^@ NM_033064.4(ATCAY):c.*486A>C http://identifiers.org/clinvar/329512 ^@ NM_000400.3(ERCC2):c.1404C>T (p.Pro468=) http://identifiers.org/clinvar/329612 ^@ NM_025136.3(OPA3):c.*4026delA http://identifiers.org/clinvar/338598 ^@ NM_030777.3(SLC2A10):c.1596C>T (p.Tyr532=) http://identifiers.org/clinvar/329712 ^@ NM_000554.5(CRX):c.*527C>T http://identifiers.org/clinvar/329762 ^@ NM_000554.5(CRX):c.*2396C>T http://identifiers.org/clinvar/329812 ^@ NM_002103.4(GYS1):c.1308+5G>A http://identifiers.org/clinvar/339688 ^@ NM_000628.4(IL10RB):c.-94C>A http://identifiers.org/clinvar/339788 ^@ NM_000219.5(KCNE1):c.-530G>A http://identifiers.org/clinvar/340238 ^@ NM_130445.3(COL18A1):c.2173G>A (p.Val725Met) http://identifiers.org/clinvar/340539 ^@ NM_006031.5(PCNT):c.9099+8G>T http://identifiers.org/clinvar/338698 ^@ NM_006420.2(ARFGEF2):c.4061T>C (p.Val1354Ala) http://identifiers.org/clinvar/340789 ^@ NM_017929.5(PEX26):c.*1590G>A http://identifiers.org/clinvar/338748 ^@ NM_015339.4(ADNP):c.1102C>T (p.Gln368Ter) http://identifiers.org/clinvar/341439 ^@ NM_004737.5(LARGE1):c.26G>A (p.Arg9Gln) http://identifiers.org/clinvar/339588 ^@ NM_000933.3(PLCB4):c.2992A>G (p.Thr998Ala) http://identifiers.org/clinvar/339638 ^@ NM_000484.3(APP):c.1380A>G (p.Arg460=) http://identifiers.org/clinvar/339738 ^@ NM_000219.5(KCNE1):c.*1832C>T http://identifiers.org/clinvar/340038 ^@ NM_020639.2(RIPK4):c.7G>A (p.Gly3Ser) http://identifiers.org/clinvar/382738 ^@ NM_001458.4(FLNC):c.3693C>T (p.Gly1231=) http://identifiers.org/clinvar/388969 ^@ NM_020987.4(ANK3):c.5939A>G (p.Asp1980Gly) http://identifiers.org/clinvar/386830 ^@ NM_014000.2(VCL):c.2256G>C (p.Gly752=) http://identifiers.org/clinvar/381346 ^@ NM_000314.6(PTEN):c.-12A>T http://identifiers.org/clinvar/380745 ^@ NM_016203.3(PRKAG2):c.912G>T (p.Ala304=) http://identifiers.org/clinvar/379203 ^@ NM_005431.1(XRCC2):c.502T>C (p.Leu168=) http://identifiers.org/clinvar/386380 ^@ NM_032634.3(PIGO):c.879G>A (p.Glu293=) http://identifiers.org/clinvar/383639 ^@ NM_001698.2(AUH):c.894+13A>C http://identifiers.org/clinvar/383138 ^@ NM_020987.4(ANK3):c.11927C>A (p.Thr3976Asn) http://identifiers.org/clinvar/382938 ^@ NM_001204824.1(KCNQ3):c.1440-12G>A http://identifiers.org/clinvar/383389 ^@ NM_201590.2(CACNB2):c.-200104G>T http://identifiers.org/clinvar/392418 ^@ NM_016628.4(WAC):c.1346C>G (p.Ser449Ter) http://identifiers.org/clinvar/383790 ^@ NM_020987.4(ANK3):c.1028A>C (p.Gln343Pro) http://identifiers.org/clinvar/382287 ^@ NM_014000.2(VCL):c.2769G>A (p.Val923=) http://identifiers.org/clinvar/386630 ^@ NM_000051.3(ATM):c.5763-13C>T http://identifiers.org/clinvar/380394 ^@ NM_001613.2(ACTA2):c.60G>A (p.Lys20=) http://identifiers.org/clinvar/388069 ^@ NM_018400.3(SCN3B):c.55+7A>G http://identifiers.org/clinvar/382537 ^@ NM_006231.3(POLE):c.1695C>A (p.Ala565=) http://identifiers.org/clinvar/380193 ^@ NM_017547.3(FOXRED1):c.675G>A (p.Gln225=) http://identifiers.org/clinvar/379153 ^@ NM_014191.3(SCN8A):c.-61C>T http://identifiers.org/clinvar/378195 ^@ NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=) http://identifiers.org/clinvar/387080 ^@ NM_002180.2(IGHMBP2):c.1633-14G>A http://identifiers.org/clinvar/388369 ^@ NM_016725.2(FOLR1):c.237C>T (p.Ser79=) http://identifiers.org/clinvar/377643 ^@ NM_000075.3(CDK4):c.777G>A (p.Ser259=) http://identifiers.org/clinvar/378753 ^@ NM_000391.3(TPP1):c.75C>T (p.Pro25=) http://identifiers.org/clinvar/388319 ^@ NM_025114.3(CEP290):c.6132T>G (p.Pro2044=) http://identifiers.org/clinvar/383589 ^@ NM_000059.3(BRCA2):c.8064C>T (p.Leu2688=) http://identifiers.org/clinvar/378450 ^@ NM_025215.5(PUS1):c.545-7C>T http://identifiers.org/clinvar/384140 ^@ NM_001376.4(DYNC1H1):c.6909C>T (p.Phe2303=) http://identifiers.org/clinvar/384741 ^@ NM_006231.3(POLE):c.3138C>T (p.Tyr1046=) http://identifiers.org/clinvar/377893 ^@ NM_005249.4(FOXG1):c.852G>A (p.Leu284=) http://identifiers.org/clinvar/387330 ^@ NM_006939.3(SOS2):c.2162-4C>A http://identifiers.org/clinvar/388919 ^@ NM_001003800.1(BICD2):c.198G>T (p.Val66=) http://identifiers.org/clinvar/377843 ^@ NM_000136.2(FANCC):c.686+16T>G http://identifiers.org/clinvar/382638 ^@ NM_004863.3(SPTLC2):c.561A>G (p.Ser187=) http://identifiers.org/clinvar/381196 ^@ NM_006258.3(PRKG1):c.845A>G (p.Asn282Ser) http://identifiers.org/clinvar/380143 ^@ NM_024537.3(CARS2):c.1664A>C (p.Gln555Pro) http://identifiers.org/clinvar/381986 ^@ NM_005902.3(SMAD3):c.607+7C>T http://identifiers.org/clinvar/377693 ^@ NM_017882.2(CLN6):c.-37C>T http://identifiers.org/clinvar/381096 ^@ NM_000257.3(MYH7):c.999+9G>A http://identifiers.org/clinvar/377743 ^@ NM_182476.2(COQ6):c.843A>G (p.Leu281=) http://identifiers.org/clinvar/384090 ^@ NM_006888.4(CALM1):c.88A>C (p.Thr30Pro) http://identifiers.org/clinvar/387130 ^@ NM_024490.3(ATP10A):c.3617C>T (p.Pro1206Leu) http://identifiers.org/clinvar/383689 ^@ NM_133647.1(SLC12A6):c.1707A>G (p.Pro569=) http://identifiers.org/clinvar/387180 ^@ NM_024675.3(PALB2):c.48+16G>A http://identifiers.org/clinvar/389319 ^@ NM_001042432.1(CLN3):c.1213C>A (p.Arg405=) http://identifiers.org/clinvar/383339 ^@ NM_004360.4(CDH1):c.270G>C (p.Arg90=) http://identifiers.org/clinvar/378245 ^@ NM_016013.3(NDUFAF1):c.-20C>G http://identifiers.org/clinvar/389569 ^@ NM_198525.2(KIF7):c.3664+15C>T http://identifiers.org/clinvar/390019 ^@ NM_016373.3(WWOX):c.*1G>C http://identifiers.org/clinvar/392568 ^@ NM_006231.3(POLE):c.6137-19A>T http://identifiers.org/clinvar/384390 ^@ NM_000548.4(TSC2):c.3131+8C>T http://identifiers.org/clinvar/387530 ^@ NM_000833.4(GRIN2A):c.2406C>T (p.Asn802=) http://identifiers.org/clinvar/47445 ^@ NM_133378.4(TTN):c.77491G>A (p.Glu25831Lys) http://identifiers.org/clinvar/47495 ^@ NM_133378.4(TTN):c.82399C>T (p.Arg27467Cys) http://identifiers.org/clinvar/47545 ^@ NM_133378.4(TTN):c.87147T>A (p.Asp29049Glu) http://identifiers.org/clinvar/47595 ^@ NM_133378.4(TTN):c.90460A>T (p.Ile30154Phe) http://identifiers.org/clinvar/47645 ^@ NM_133378.4(TTN):c.94399G>A (p.Asp31467Asn) http://identifiers.org/clinvar/47695 ^@ NM_001256850.1(TTN):c.100667G>A (p.Gly33556Asp) http://identifiers.org/clinvar/47745 ^@ NM_133379.4(TTN):c.12653T>C (p.Ile4218Thr) http://identifiers.org/clinvar/47795 ^@ NM_133379.4(TTN):c.16160G>A (p.Cys5387Tyr) http://identifiers.org/clinvar/47845 ^@ NM_133379.4(TTN):c.10303+2177G>C http://identifiers.org/clinvar/47895 ^@ NM_144573.3(NEXN):c.1704C>T (p.Gly568=) http://identifiers.org/clinvar/47945 ^@ NM_144612.6(LOXHD1):c.5224G>A (p.Glu1742Lys) http://identifiers.org/clinvar/47996 ^@ NM_005709.3(USH1C):c.225T>C (p.Asp75=) http://identifiers.org/clinvar/48047 ^@ NM_170707.3(LMNA):c.1656C>T (p.Asp552=) http://identifiers.org/clinvar/48097 ^@ NM_170707.3(LMNA):c.976T>A (p.Ser326Thr) http://identifiers.org/clinvar/48147 ^@ NM_174878.2(CLRN1):c.57A>T (p.Ala19=) http://identifiers.org/clinvar/48197 ^@ NM_194248.2(OTOF):c.2406+9G>A http://identifiers.org/clinvar/48247 ^@ NM_194248.2(OTOF):c.505C>T (p.Arg169Trp) http://identifiers.org/clinvar/48297 ^@ NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) http://identifiers.org/clinvar/48348 ^@ NM_206933.2(USH2A):c.10450C>T (p.Arg3484Ter) http://identifiers.org/clinvar/48398 ^@ NM_206933.2(USH2A):c.12362G>A (p.Arg4121His) http://identifiers.org/clinvar/48448 ^@ NM_206933.2(USH2A):c.14901C>T (p.Thr4967=) http://identifiers.org/clinvar/48499 ^@ NM_206933.2(USH2A):c.3309C>A (p.Tyr1103Ter) http://identifiers.org/clinvar/128 ^@ NM_000071.2(CBS):c.1224-2A>C http://identifiers.org/clinvar/137 ^@ NM_001128228.2(TPRN):c.225_235delGGGGGCGCGGC (p.Gly76Alafs) http://identifiers.org/clinvar/278 ^@ NM_001159772.1(CANT1):c.734delC (p.Pro245Argfs) http://identifiers.org/clinvar/287 ^@ NM_000552.4(VWF):c.3939G>C (p.Trp1313Cys) http://identifiers.org/clinvar/310 ^@ NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) http://identifiers.org/clinvar/320 ^@ NM_012338.3(TSPAN12):c.562G>C (p.Gly188Arg) http://identifiers.org/clinvar/854 ^@ NM_080669.5(SLC46A1):c.1126C>T (p.Arg376Trp) http://identifiers.org/clinvar/928 ^@ NM_000404.3(GLB1):c.367G>A (p.Gly123Arg) http://identifiers.org/clinvar/1184 ^@ CYP11B1, CYP11B1/CYP11B2 CHIMERA http://identifiers.org/clinvar/1229 ^@ NM_017654.3(SAMD9):c.4483A>G (p.Lys1495Glu) http://identifiers.org/clinvar/1324 ^@ NM_030973.3(MED25):c.1004C>T (p.Ala335Val) http://identifiers.org/clinvar/1415 ^@ NM_001041.3(SI):c.1859T>C (p.Leu620Pro) http://identifiers.org/clinvar/1460 ^@ HMBS, 1-BP INS, 182G http://identifiers.org/clinvar/1505 ^@ PKLR, 1-BP DEL http://identifiers.org/clinvar/2275 ^@ NM_014874.3(MFN2):c.493C>G (p.His165Asp) http://identifiers.org/clinvar/2320 ^@ ETHE1, 1-BP INS, 221A http://identifiers.org/clinvar/2366 ^@ NM_213653.3(HFE2):c.976C>T (p.Arg326Ter) http://identifiers.org/clinvar/2411 ^@ NM_032409.2(PINK1):c.836G>A (p.Arg279His) http://identifiers.org/clinvar/2688 ^@ nsv513784 http://identifiers.org/clinvar/2734 ^@ NM_004183.3(BEST1):c.25G>A (p.Val9Met) http://identifiers.org/clinvar/2824 ^@ NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) http://identifiers.org/clinvar/2915 ^@ NM_173477.4(USH1G):c.186_187delCA (p.Ile63Leufs) http://identifiers.org/clinvar/2960 ^@ NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) http://identifiers.org/clinvar/3005 ^@ NM_000226.3(KRT9):c.478C>G (p.Leu160Val) http://identifiers.org/clinvar/3054 ^@ NM_000487.5(ARSA):c.293C>T (p.Ser98Phe) http://identifiers.org/clinvar/3154 ^@ NM_139057.3(ADAMTS17):c.760C>T (p.Gln254Ter) http://identifiers.org/clinvar/3248 ^@ POMT1, ARG541TER http://identifiers.org/clinvar/3294 ^@ NM_000268.3(NF2):c.1387G>T (p.Glu463Ter) http://identifiers.org/clinvar/3339 ^@ NM_000348.3(SRD5A2):c.164T>A (p.Leu55Gln) http://identifiers.org/clinvar/10634 ^@ F9, EX4-5DEL http://identifiers.org/clinvar/10680 ^@ NM_000266.3(NDP):c.224C>G (p.Ser75Cys) http://identifiers.org/clinvar/10725 ^@ NM_000169.2(GLA):c.166T>G (p.Cys56Gly) http://identifiers.org/clinvar/10770 ^@ NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) http://identifiers.org/clinvar/10815 ^@ PHEX, IVS1AS, G-C, -1 http://identifiers.org/clinvar/10860 ^@ NM_000276.3(OCRL):c.1436A>G (p.Tyr479Cys) http://identifiers.org/clinvar/10906 ^@ SH2D1A, -10C-T http://identifiers.org/clinvar/10951 ^@ NM_000475.4(NR0B1):c.788T>A (p.Leu263Ter) http://identifiers.org/clinvar/10998 ^@ NM_000531.5(OTC):c.387-2A>T http://identifiers.org/clinvar/11041 ^@ NM_001399.4(EDA):c.183C>G (p.Tyr61Ter) http://identifiers.org/clinvar/11087 ^@ NM_001128834.2(PLP1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/11131 ^@ WAS, IVS6DS, T-G, +2 http://identifiers.org/clinvar/11178 ^@ NM_000117.2(EMD):c.548C>A (p.Pro183His) http://identifiers.org/clinvar/11222 ^@ NM_004006.2(DMD):c.2302C>T (p.Arg768Ter) http://identifiers.org/clinvar/11268 ^@ NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) http://identifiers.org/clinvar/11312 ^@ NM_000033.3(ABCD1):c.1850G>A (p.Arg617His) http://identifiers.org/clinvar/11359 ^@ BTK, 8-BP INS, NT721 http://identifiers.org/clinvar/11403 ^@ NM_015884.3(MBTPS2):c.261G>A (p.Met87Ile) http://identifiers.org/clinvar/11617 ^@ NM_005183.3(CACNA1F):c.2683C>T (p.Arg895Ter) http://identifiers.org/clinvar/11667 ^@ RPS6KA3, 3-BP DEL, 1428TAT http://identifiers.org/clinvar/11718 ^@ NM_000686.4(AGTR2):c.971G>A (p.Arg324Gln) http://identifiers.org/clinvar/11770 ^@ NM_001110556.1(FLNA):c.1923C>T (p.Gly641=) http://identifiers.org/clinvar/11820 ^@ MECP2, 41-BP DEL, NT1157 http://identifiers.org/clinvar/11870 ^@ NM_000137.2(FAH):c.1062+5G>A http://identifiers.org/clinvar/11920 ^@ NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) http://identifiers.org/clinvar/11970 ^@ DLD, IVS9DS, G-A, +1 http://identifiers.org/clinvar/12022 ^@ PCCA, 2-BP INS, 1824IVS, +3 http://identifiers.org/clinvar/12072 ^@ F7, ALA244VAL http://identifiers.org/clinvar/12122 ^@ NM_000204.4(CFI):c.1571A>T (p.Asp524Val) http://identifiers.org/clinvar/12175 ^@ CYP21A2, ARG426HIS http://identifiers.org/clinvar/12227 ^@ ATP6V1B1, IVS6DS, G-A, +1 http://identifiers.org/clinvar/12278 ^@ NM_000463.2(UGT1A1):c.145C>T (p.Gln49Ter) http://identifiers.org/clinvar/12330 ^@ NM_199292.2(TH):c.941C>T (p.Thr314Met) http://identifiers.org/clinvar/12381 ^@ TP53, 11-BP DEL/5-BP INS http://identifiers.org/clinvar/12432 ^@ NM_000363.4(TNNI3):c.607G>A (p.Gly203Ser) http://identifiers.org/clinvar/12483 ^@ NM_000359.2(TGM1):c.424C>T (p.Arg142Cys) http://identifiers.org/clinvar/12533 ^@ NM_000660.6(TGFB1):c.667T>C (p.Cys223Arg) http://identifiers.org/clinvar/12583 ^@ NM_004985.4(KRAS):c.35G>T (p.Gly12Val) http://identifiers.org/clinvar/12634 ^@ NM_030751.5(ZEB1):c.2519A>C (p.Gln840Pro) http://identifiers.org/clinvar/12685 ^@ NM_000549.4(TSHB):c.94G>T (p.Glu32Ter) http://identifiers.org/clinvar/12736 ^@ NM_198253.2(TERT):c.2594G>A (p.Arg865His) http://identifiers.org/clinvar/12786 ^@ NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) http://identifiers.org/clinvar/12836 ^@ NM_001024858.2(SPTB):c.6053C>G (p.Ala2018Gly) http://identifiers.org/clinvar/12887 ^@ NM_006920.4(SCN1A):c.3577T>C (p.Trp1193Arg) http://identifiers.org/clinvar/12937 ^@ HTR2A, -1438G-A http://identifiers.org/clinvar/12988 ^@ NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/13038 ^@ NM_000539.3(RHO):c.316G>A (p.Gly106Arg) http://identifiers.org/clinvar/13090 ^@ NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) http://identifiers.org/clinvar/13140 ^@ NM_000448.2(RAG1):c.2320G>T (p.Glu774Ter) http://identifiers.org/clinvar/13191 ^@ NM_006907.3(PYCR1):c.616G>T (p.Gly206Trp) http://identifiers.org/clinvar/36674 ^@ NM_000444.5(PHEX):c.1589G>A (p.Trp530Ter) http://identifiers.org/clinvar/36728 ^@ NM_001035.2(RYR2):c.10230+20T>C http://identifiers.org/clinvar/36779 ^@ NM_003122.4(SPINK1):c.194G>A (p.Arg65Gln) http://identifiers.org/clinvar/36829 ^@ NM_000545.6(HNF1A):c.734G>T (p.Gly245Val) http://identifiers.org/clinvar/36879 ^@ NM_012452.2(TNFRSF13B):c.81G>A (p.Thr27=) http://identifiers.org/clinvar/36947 ^@ NM_198253.2(TERT):c.508G>A (p.Val170Met) http://identifiers.org/clinvar/38032 ^@ NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) http://identifiers.org/clinvar/38085 ^@ NM_000059.3(BRCA2):c.7133C>G (p.Ser2378Ter) http://identifiers.org/clinvar/38135 ^@ NM_000059.3(BRCA2):c.8014A>G (p.Ile2672Val) http://identifiers.org/clinvar/38185 ^@ NM_000059.3(BRCA2):c.8755-9T>C http://identifiers.org/clinvar/38235 ^@ NM_000059.3(BRCA2):c.9380G>A (p.Trp3127Ter) http://identifiers.org/clinvar/242679 ^@ NM_000171.3(GLRA1):c.839G>A (p.Arg280His) http://identifiers.org/clinvar/38409 ^@ NM_018713.2(SLC30A10):c.765_767delGGT (p.Val256del) http://identifiers.org/clinvar/38545 ^@ NM_000155.3(GALT):c.220_221delCT (p.Leu74Valfs) http://identifiers.org/clinvar/38735 ^@ NM_000492.3(CFTR):c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs) http://identifiers.org/clinvar/38787 ^@ NM_000495.4(COL4A5):c.4780_4781delTG (p.Trp1594Aspfs) http://identifiers.org/clinvar/38911 ^@ NM_001039958.1(MESP2):c.670T>C (p.Ser224Pro) http://identifiers.org/clinvar/38961 ^@ NM_001457.3(FLNB):c.502G>A (p.Gly168Ser) http://identifiers.org/clinvar/39013 ^@ NM_016938.4(EFEMP2):c.577delC (p.Gln193Serfs) http://identifiers.org/clinvar/39063 ^@ NM_024312.4(GNPTAB):c.3002T>C (p.Leu1001Pro) http://identifiers.org/clinvar/39120 ^@ NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) http://identifiers.org/clinvar/39170 ^@ NM_198578.3(LRRK2):c.364C= (p.Leu122=) http://identifiers.org/clinvar/39220 ^@ NM_198578.3(LRRK2):c.6187_6191delCTCTA (p.Leu2063Terfs) http://identifiers.org/clinvar/39271 ^@ NM_207352.3(CYP4V2):c.802-8_810del17insGC http://identifiers.org/clinvar/39433 ^@ NM_004387.3(NKX2-5):c.707C>A (p.Pro236His) http://identifiers.org/clinvar/39484 ^@ NM_005327.4(HADH):c.636+471G>T http://identifiers.org/clinvar/39535 ^@ NM_000359.2(TGM1):c.1331dupA (p.Arg445Glufs) http://identifiers.org/clinvar/39585 ^@ NM_004168.3(SDHA):c.1523C>T (p.Thr508Ile) http://identifiers.org/clinvar/39637 ^@ NM_144577.3(CCDC114):c.742G>A (p.Ala248Thr) http://identifiers.org/clinvar/39689 ^@ HS6ST1, ARG372TRP http://identifiers.org/clinvar/39739 ^@ NM_005505.4(SCARB1):c.335C>T (p.Ser112Phe) http://identifiers.org/clinvar/39790 ^@ NM_001083614.1(EARS2):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/39841 ^@ NM_018849.2(ABCB4):c.1633C>G (p.Arg545Gly) http://identifiers.org/clinvar/39984 ^@ NM_020964.2(EPG5):c.6232C>T (p.Arg2078Ter) http://identifiers.org/clinvar/40116 ^@ NM_022095.3(ZNF335):c.3332G>A (p.Arg1111His) http://identifiers.org/clinvar/40248 ^@ NM_007215.3(POLG2):c.1105A>G (p.Arg369Gly) http://identifiers.org/clinvar/40378 ^@ NM_004333.4(BRAF):c.1518-48C>T http://identifiers.org/clinvar/40445 ^@ NM_005343.3(HRAS):c.460G>A (p.Asp154Asn) http://identifiers.org/clinvar/40513 ^@ NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) http://identifiers.org/clinvar/40571 ^@ NM_002834.4(PTPN11):c.1697C>T (p.Thr566Met) http://identifiers.org/clinvar/40634 ^@ NM_007373.3(SHOC2):c.-1C>T http://identifiers.org/clinvar/40716 ^@ NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) http://identifiers.org/clinvar/40813 ^@ NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) http://identifiers.org/clinvar/40996 ^@ NM_000095.2(COMP):c.1760A>G (p.His587Arg) http://identifiers.org/clinvar/51330 ^@ NM_000059.3(BRCA2):c.26delC (p.Pro9Glnfs) http://identifiers.org/clinvar/51380 ^@ NM_000059.3(BRCA2):c.2965T>G (p.Tyr989Asp) http://identifiers.org/clinvar/51430 ^@ NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser) http://identifiers.org/clinvar/51482 ^@ NM_000059.3(BRCA2):c.3531_3534delCAGC (p.Asp1177Glufs) http://identifiers.org/clinvar/51533 ^@ NM_000059.3(BRCA2):c.3830delA (p.Asn1277Ilefs) http://identifiers.org/clinvar/52397 ^@ NM_000059.3(BRCA2):c.7742T>G (p.Leu2581Trp) http://identifiers.org/clinvar/54888 ^@ NM_007294.3(BRCA1):c.3450delT (p.Asp1151Metfs) http://identifiers.org/clinvar/54938 ^@ NM_007294.3(BRCA1):c.3619A>T (p.Lys1207Ter) http://identifiers.org/clinvar/55434 ^@ NM_007294.3(BRCA1):c.5154G>A (p.Trp1718Ter) http://identifiers.org/clinvar/55484 ^@ NM_007294.3(BRCA1):c.5255C>T (p.Ala1752Val) http://identifiers.org/clinvar/55537 ^@ NM_007294.3(BRCA1):c.5333-3T>G http://identifiers.org/clinvar/55587 ^@ NM_007294.3(BRCA1):c.5467+8G>T http://identifiers.org/clinvar/55637 ^@ NM_007294.3(BRCA1):c.5585A>T (p.His1862Leu) http://identifiers.org/clinvar/55690 ^@ NM_007294.3(BRCA1):c.757G>A (p.Ala253Thr) http://identifiers.org/clinvar/55741 ^@ NM_007294.3(BRCA1):c.889A>C (p.Met297Leu) http://identifiers.org/clinvar/55808 ^@ NM_001142864.3(PIEZO1):c.4073G>C (p.Arg1358Pro) http://identifiers.org/clinvar/55872 ^@ NM_015340.3(LARS2):c.1886C>T (p.Thr629Met) http://identifiers.org/clinvar/55948 ^@ NM_000027.3(AGA):c.44T>G (p.Leu15Arg) http://identifiers.org/clinvar/55999 ^@ NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg) http://identifiers.org/clinvar/56052 ^@ NM_000170.2(GLDC):c.1832T>G (p.Val611Gly) http://identifiers.org/clinvar/56103 ^@ NM_000170.2(GLDC):c.793delC (p.Gln265Serfs) http://identifiers.org/clinvar/56157 ^@ NM_014585.5(SLC40A1):c.553A>G (p.Asn185Asp) http://identifiers.org/clinvar/56208 ^@ NM_000310.3(PPT1):c.628-1G>T http://identifiers.org/clinvar/56259 ^@ NM_001042432.1(CLN3):c.222+2T>G http://identifiers.org/clinvar/56309 ^@ NM_001080522.2(CC2D2A):c.3774dupT (p.Glu1259Terfs) http://identifiers.org/clinvar/56361 ^@ NM_001126105.2(SLC7A7):c.1460delG (p.Cys487Leufs) http://identifiers.org/clinvar/56413 ^@ NM_004328.4(BCS1L):c.431G>A (p.Arg144Gln) http://identifiers.org/clinvar/56463 ^@ NM_004646.3(NPHS1):c.2156_2163delTGCACTGC (p.Leu719Profs) http://identifiers.org/clinvar/56513 ^@ NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) http://identifiers.org/clinvar/56564 ^@ NM_015294.4(TRIM37):c.1346dupA (p.Ser450Valfs) http://identifiers.org/clinvar/56620 ^@ NM_017777.3(MKS1):c.392_393delCT (p.Ser131Terfs) http://identifiers.org/clinvar/56672 ^@ NM_017890.4(VPS13B):c.5331dupT (p.Asp1778Terfs) http://identifiers.org/clinvar/56722 ^@ NM_018965.3(TREM2):c.313delG (p.Ala105Argfs) http://identifiers.org/clinvar/56772 ^@ NM_153704.5(TMEM67):c.2301delT (p.Asp768Ilefs) http://identifiers.org/clinvar/56905 ^@ NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) http://identifiers.org/clinvar/57032 ^@ GRCh38/hg38 11p13(chr11:31634904-32088303)x3 http://identifiers.org/clinvar/57087 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 http://identifiers.org/clinvar/57142 ^@ GRCh38/hg38 2q24.3(chr2:166286955-167102242)x1 http://identifiers.org/clinvar/57192 ^@ GRCh38/hg38 22q13.31(chr22:47069266-47636658)x3 http://identifiers.org/clinvar/57245 ^@ GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1 http://identifiers.org/clinvar/101170 ^@ NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu) http://identifiers.org/clinvar/101220 ^@ NM_000090.3(COL3A1):c.1150-1G>C (p.Gly384_Met398del) http://identifiers.org/clinvar/101270 ^@ NM_000090.3(COL3A1):c.2771G>T (p.Gly924Val) http://identifiers.org/clinvar/101320 ^@ NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu) http://identifiers.org/clinvar/101370 ^@ NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg) http://identifiers.org/clinvar/101420 ^@ NM_000090.3(COL3A1):c.3093+2T>G (p.Gly1014_Lys1031del) http://identifiers.org/clinvar/101470 ^@ NM_000090.3(COL3A1):c.754G>C (p.Gly252Arg) http://identifiers.org/clinvar/102422 ^@ NM_000541.4(SAG):c.523C>T (p.Arg175Ter) http://identifiers.org/clinvar/102483 ^@ NM_000277.1(PAH):c.1033G>A (p.Ala345Thr) http://identifiers.org/clinvar/102539 ^@ NM_000277.1(PAH):c.1159T>C (p.Tyr387His) http://identifiers.org/clinvar/102592 ^@ NM_000277.1(PAH):c.1316-35C>T http://identifiers.org/clinvar/102647 ^@ NM_000277.1(PAH):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/102698 ^@ NM_000277.1(PAH):c.490A>G (p.Ile164Val) http://identifiers.org/clinvar/103248 ^@ NM_138329.2(NLRP6):c.30-271C>G http://identifiers.org/clinvar/103298 ^@ NM_153447.4(NLRP5):c.622+266C>A http://identifiers.org/clinvar/103348 ^@ NM_176822.3(NLRP14):c.289+28G>A http://identifiers.org/clinvar/111222 ^@ NM_000619.2(IFNG):c.*97_*100delTCAA http://identifiers.org/clinvar/111272 ^@ NM_006068.4(TLR6):c.628G>A (p.Ala210Thr) http://identifiers.org/clinvar/120234 ^@ NM_017637.5(BNC2):c.2051C>T (p.Pro684Leu) http://identifiers.org/clinvar/120284 ^@ NM_000277.1(PAH):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/125441 ^@ NM_001171155.1(PET100):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/125506 ^@ NM_007294.3(BRCA1):c.1637_1685del49ins5 http://identifiers.org/clinvar/125579 ^@ NM_007294.3(BRCA1):c.2658_2659insA (p.Ala887Serfs) http://identifiers.org/clinvar/125664 ^@ NM_007294.3(BRCA1):c.301+2_301+3insT http://identifiers.org/clinvar/125725 ^@ NM_007294.3(BRCA1):c.4676-1G>A http://identifiers.org/clinvar/125799 ^@ U14680.1:n.5312+4delT http://identifiers.org/clinvar/125863 ^@ NM_007294.3(BRCA1):c.442-2A>C http://identifiers.org/clinvar/125926 ^@ NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs) http://identifiers.org/clinvar/125990 ^@ U43746.1:n.295+149T>G http://identifiers.org/clinvar/126055 ^@ NM_000059.3(BRCA2):c.4904dupT (p.Leu1635Phefs) http://identifiers.org/clinvar/126128 ^@ NM_000059.3(BRCA2):c.7052C>T (p.Ala2351Val) http://identifiers.org/clinvar/126187 ^@ U43746.1:n.886_887delGC http://identifiers.org/clinvar/126247 ^@ NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/126297 ^@ NM_001173991.2(TMEM216):c.440G>C (p.Arg147Thr) http://identifiers.org/clinvar/126348 ^@ NM_003070.4(SMARCA2):c.462G>A (p.Gly154=) http://identifiers.org/clinvar/126404 ^@ NM_015474.3(SAMHD1):c.1106T>C (p.Leu369Ser) http://identifiers.org/clinvar/126472 ^@ NM_021625.4(TRPV4):c.1851C>A (p.Phe617Leu) http://identifiers.org/clinvar/126542 ^@ NM_001122757.2(POU1F1):c.743+1G>T http://identifiers.org/clinvar/126609 ^@ NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs) http://identifiers.org/clinvar/126661 ^@ NM_024675.3(PALB2):c.2586+10A>G http://identifiers.org/clinvar/126711 ^@ NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) http://identifiers.org/clinvar/126813 ^@ NM_000321.2(RB1):c.463dupT (p.Tyr155Leufs) http://identifiers.org/clinvar/161523 ^@ NM_001128223.2(ZNF717):c.1228C>G (p.Leu410Val) http://identifiers.org/clinvar/161573 ^@ NM_001206927.1(DNAH8):c.3333+7A>G http://identifiers.org/clinvar/161773 ^@ NM_025145.6(CFAP43):c.2051A>G (p.His684Arg) http://identifiers.org/clinvar/161823 ^@ NM_153442.3(GPR26):c.71C>T (p.Ala24Val) http://identifiers.org/clinvar/161623 ^@ NM_004569.3(PIGH):c.471C>G (p.Phe157Leu) http://identifiers.org/clinvar/161723 ^@ NM_018714.2(COG1):c.2125G>A (p.Val709Ile) http://identifiers.org/clinvar/161673 ^@ NM_014289.3(CAPN6):c.1757G>A (p.Arg586Gln) http://identifiers.org/clinvar/161473 ^@ NM_000868.3(HTR2C):c.502C>T (p.Arg168Trp) http://identifiers.org/clinvar/161987 ^@ NM_002769.4(PRSS1):c.351A>C (p.Ala117=) http://identifiers.org/clinvar/242628 ^@ NM_005154.4(USP8):c.2138T>G (p.Leu713Arg) http://identifiers.org/clinvar/162053 ^@ NM_001244008.1(KIF1A):c.305G>A (p.Gly102Asp) http://identifiers.org/clinvar/162113 ^@ NM_005211.3(CSF1R):c.2480T>C (p.Ile827Thr) http://identifiers.org/clinvar/162172 ^@ NM_002775.4(HTRA1):c.472+4990G>T http://identifiers.org/clinvar/162384 ^@ NM_152515.4(CKAP2L):c.571dupA (p.Ile191Asnfs) http://identifiers.org/clinvar/162465 ^@ NM_000701.7(ATP1A1):c.299_313delTCTCAATGTTACTGT (p.Phe100_Leu104del) http://identifiers.org/clinvar/162518 ^@ NM_005360.4(MAF):c.206C>G (p.Pro69Arg) http://identifiers.org/clinvar/162600 ^@ NM_013382.5(POMT2):c.1699C>T (p.Pro567Ser) http://identifiers.org/clinvar/178123 ^@ NM_001035.2(RYR2):c.9619A>G (p.Asn3207Asp) http://identifiers.org/clinvar/165069 ^@ NM_001035.2(RYR2):c.365G>A (p.Arg122His) http://identifiers.org/clinvar/180081 ^@ NM_133378.4(TTN):c.84794C>T (p.Thr28265Ile) http://identifiers.org/clinvar/178573 ^@ NM_206933.2(USH2A):c.12598T>G (p.Trp4200Gly) http://identifiers.org/clinvar/179092 ^@ NM_206933.2(USH2A):c.-1C>G http://identifiers.org/clinvar/179981 ^@ NM_133378.4(TTN):c.65900C>A (p.Ser21967Tyr) http://identifiers.org/clinvar/165899 ^@ NM_133378.4(TTN):c.57070A>G (p.Ile19024Val) http://identifiers.org/clinvar/166467 ^@ NM_206933.2(USH2A):c.8937A>G (p.Val2979=) http://identifiers.org/clinvar/178992 ^@ NM_007123.5(USH2A):c.1530C>T (p.Asp510=) http://identifiers.org/clinvar/179042 ^@ NM_001256850.1(TTN):c.60806T>C (p.Ile20269Thr) http://identifiers.org/clinvar/178173 ^@ NM_133378.4(TTN):c.81554T>A (p.Leu27185His) http://identifiers.org/clinvar/165782 ^@ NM_133378.4(TTN):c.77894_77899delTTGGTG (p.Val25965_Gly25966del) http://identifiers.org/clinvar/179192 ^@ NM_133378.4(TTN):c.38993-12C>T http://identifiers.org/clinvar/178223 ^@ NM_001256850.1(TTN):c.34775-13C>T http://identifiers.org/clinvar/177972 ^@ NM_133378.4(TTN):c.22762A>G (p.Ile7588Val) http://identifiers.org/clinvar/166235 ^@ NM_133432.3(TTN):c.12175T>G (p.Cys4059Gly) http://identifiers.org/clinvar/166285 ^@ NM_133379.4(TTN):c.10625G>A (p.Arg3542Gln) http://identifiers.org/clinvar/166099 ^@ NM_133378.4(TTN):c.30991C>A (p.Leu10331Ile) http://identifiers.org/clinvar/166345 ^@ NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) http://identifiers.org/clinvar/178273 ^@ NM_001256850.1(TTN):c.2422C>T (p.Arg808Cys) http://identifiers.org/clinvar/178741 ^@ NM_001369.2(DNAH5):c.12658A>G (p.Thr4220Ala) http://identifiers.org/clinvar/165501 ^@ NM_003280.2(TNNC1):c.24+1G>A http://identifiers.org/clinvar/165979 ^@ NM_133378.4(TTN):c.46364G>A (p.Arg15455Gln) http://identifiers.org/clinvar/165399 ^@ NM_003242.5(TGFBR2):c.1591G>A (p.Ala531Thr) http://identifiers.org/clinvar/178623 ^@ NM_004999.3(MYO6):c.1674+13A>G http://identifiers.org/clinvar/179142 ^@ NM_004403.2(DFNA5):c.862+10dupG http://identifiers.org/clinvar/177619 ^@ NM_005228.4(EGFR):c.2126A>T (p.Glu709Val) http://identifiers.org/clinvar/178473 ^@ NM_004999.3(MYO6):c.2552A>C (p.Asp851Ala) http://identifiers.org/clinvar/177720 ^@ NM_005228.4(EGFR):c.2237_2248delAATTAAGAGAAGinsCAC (p.Glu746_Ala750delinsAlaPro) http://identifiers.org/clinvar/198573 ^@ NM_017882.2(CLN6):c.923G>C (p.Ser308Thr) http://identifiers.org/clinvar/198625 ^@ NM_173660.4(DOK7):c.1313C>G (p.Thr438Arg) http://identifiers.org/clinvar/198676 ^@ NM_032119.3(ADGRV1):c.16745C>T (p.Thr5582Met) http://identifiers.org/clinvar/198729 ^@ NM_018849.2(ABCB4):c.712C>G (p.Leu238Val) http://identifiers.org/clinvar/199045 ^@ NM_001005741.2(GBA):c.1030G>A (p.Val344Ile) http://identifiers.org/clinvar/199098 ^@ NM_004560.3(ROR2):c.2080T>C (p.Cys694Arg) http://identifiers.org/clinvar/199150 ^@ NM_018328.4(MBD5):c.1406A>G (p.His469Arg) http://identifiers.org/clinvar/199201 ^@ NM_207346.2(TSEN54):c.1276G>A (p.Val426Met) http://identifiers.org/clinvar/199256 ^@ NM_001098398.1(COPA):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/217361 ^@ NM_003159.2(CDKL5):c.2384A>C (p.Asn795Thr) http://identifiers.org/clinvar/200950 ^@ NM_170707.3(LMNA):c.64T>G (p.Ser22Ala) http://identifiers.org/clinvar/201199 ^@ NM_001035.2(RYR2):c.719A>C (p.His240Pro) http://identifiers.org/clinvar/201255 ^@ NM_001035.2(RYR2):c.5588C>T (p.Thr1863Met) http://identifiers.org/clinvar/201309 ^@ NM_001035.2(RYR2):c.11222T>C (p.Leu3741Pro) http://identifiers.org/clinvar/201365 ^@ NM_001035.2(RYR2):c.14876G>A (p.Arg4959Gln) http://identifiers.org/clinvar/199705 ^@ NM_000090.3(COL3A1):c.3525+19delG http://identifiers.org/clinvar/201535 ^@ NM_198056.2(SCN5A):c.5348C>G (p.Thr1783Ser) http://identifiers.org/clinvar/201422 ^@ NM_198056.2(SCN5A):c.3882C>T (p.Ala1294=) http://identifiers.org/clinvar/201476 ^@ NM_198056.2(SCN5A):c.2614G>A (p.Asp872Asn) http://identifiers.org/clinvar/199869 ^@ NM_004415.3(DSP):c.2468C>T (p.Ser823Leu) http://identifiers.org/clinvar/199927 ^@ NM_004415.3(DSP):c.6510_6511insCT (p.Asn2171Leufs) http://identifiers.org/clinvar/200503 ^@ NM_000238.3(KCNH2):c.2788A>C (p.Ser930Arg) http://identifiers.org/clinvar/200749 ^@ NM_000238.3(KCNH2):c.1882G>C (p.Gly628Arg) http://identifiers.org/clinvar/200638 ^@ NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) http://identifiers.org/clinvar/200331 ^@ NM_000238.3(KCNH2):c.1262C>A (p.Thr421Lys) http://identifiers.org/clinvar/200211 ^@ NM_000238.3(KCNH2):c.524C>A (p.Ala175Asp) http://identifiers.org/clinvar/201133 ^@ NM_020975.4(RET):c.2837C>T (p.Thr946Ile) http://identifiers.org/clinvar/200891 ^@ NM_000218.2(KCNQ1):c.403delG (p.Val135Serfs) http://identifiers.org/clinvar/200836 ^@ NM_000218.2(KCNQ1):c.1033-2A>G http://identifiers.org/clinvar/200093 ^@ NM_000138.4(FBN1):c.6752G>A (p.Cys2251Tyr) http://identifiers.org/clinvar/200042 ^@ NM_000138.4(FBN1):c.4336G>A (p.Asp1446Asn) http://identifiers.org/clinvar/200154 ^@ NM_000138.4(FBN1):c.2601dupT (p.Gly868Trpfs) http://identifiers.org/clinvar/199985 ^@ NM_000138.4(FBN1):c.1973G>A (p.Arg658Gln) http://identifiers.org/clinvar/201080 ^@ NM_002474.2(MYH11):c.4826G>A (p.Arg1609Gln) http://identifiers.org/clinvar/201026 ^@ NM_002474.2(MYH11):c.3031T>C (p.Leu1011=) http://identifiers.org/clinvar/199759 ^@ NM_024422.4(DSC2):c.26C>G (p.Ser9Cys) http://identifiers.org/clinvar/199815 ^@ NM_001943.4(DSG2):c.2155G>A (p.Glu719Lys) http://identifiers.org/clinvar/230178 ^@ NM_005732.3(RAD50):c.223G>A (p.Glu75Lys) http://identifiers.org/clinvar/231267 ^@ NM_005732.3(RAD50):c.3493A>G (p.Ile1165Val) http://identifiers.org/clinvar/229928 ^@ NM_000535.6(PMS2):c.387G>A (p.Ala129=) http://identifiers.org/clinvar/229678 ^@ NM_002485.4(NBN):c.1152C>G (p.Ile384Met) http://identifiers.org/clinvar/231517 ^@ NM_002485.4(NBN):c.340G>A (p.Val114Ile) http://identifiers.org/clinvar/232117 ^@ NM_002485.4(NBN):c.112G>C (p.Asp38His) http://identifiers.org/clinvar/231317 ^@ NM_004329.2(BMPR1A):c.264_266delAGA (p.Glu88del) http://identifiers.org/clinvar/229828 ^@ NM_000051.3(ATM):c.186A>G (p.Arg62=) http://identifiers.org/clinvar/230078 ^@ NM_000051.3(ATM):c.2690T>C (p.Phe897Ser) http://identifiers.org/clinvar/231767 ^@ NM_005591.3(MRE11):c.924C>A (p.Phe308Leu) http://identifiers.org/clinvar/231017 ^@ NM_000075.3(CDK4):c.724G>A (p.Val242Ile) http://identifiers.org/clinvar/231717 ^@ NM_000059.3(BRCA2):c.2256delC (p.Gln754Asnfs) http://identifiers.org/clinvar/230767 ^@ NM_000059.3(BRCA2):c.4929A>G (p.Val1643=) http://identifiers.org/clinvar/231617 ^@ NM_000059.3(BRCA2):c.5553C>G (p.Ile1851Met) http://identifiers.org/clinvar/231567 ^@ NM_000059.3(BRCA2):c.7436-2_7437delAGAT http://identifiers.org/clinvar/230817 ^@ NM_000059.3(BRCA2):c.9558A>G (p.Ala3186=) http://identifiers.org/clinvar/230867 ^@ NM_024675.3(PALB2):c.2673C>T (p.Cys891=) http://identifiers.org/clinvar/231417 ^@ NM_001042492.2(NF1):c.4352A>G (p.Asn1451Ser) http://identifiers.org/clinvar/231367 ^@ NM_001042492.2(NF1):c.7845C>T (p.Ile2615=) http://identifiers.org/clinvar/230967 ^@ NM_007294.3(BRCA1):c.1255G>C (p.Val419Leu) http://identifiers.org/clinvar/230917 ^@ NM_007294.3(BRCA1):c.1072C>T (p.Leu358=) http://identifiers.org/clinvar/232017 ^@ NM_058216.2(RAD51C):c.742T>C (p.Phe248Leu) http://identifiers.org/clinvar/232067 ^@ NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter) http://identifiers.org/clinvar/232167 ^@ NM_032043.2(BRIP1):c.1688A>G (p.Asp563Gly) http://identifiers.org/clinvar/230717 ^@ NM_032043.2(BRIP1):c.1489G>C (p.Val497Leu) http://identifiers.org/clinvar/231467 ^@ NM_000546.5(TP53):c.336C>A (p.Gly112=) http://identifiers.org/clinvar/229978 ^@ NM_000455.4(STK11):c.286A>G (p.Lys96Glu) http://identifiers.org/clinvar/231117 ^@ NM_007194.3(CHEK2):c.1591G>T (p.Glu531Ter) http://identifiers.org/clinvar/231667 ^@ NM_007194.3(CHEK2):c.1376-1G>A http://identifiers.org/clinvar/236127 ^@ NM_000350.2(ABCA4):c.5196+1056A>G http://identifiers.org/clinvar/236177 ^@ NM_004621.5(TRPC6):c.945+175A>T http://identifiers.org/clinvar/236316 ^@ NC_000001.9:g.145119261_146293282dup1174022 http://identifiers.org/clinvar/240957 ^@ NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) http://identifiers.org/clinvar/237110 ^@ NM_000143.3(FH):c.1462G>A (p.Glu488Lys) http://identifiers.org/clinvar/240157 ^@ NM_005373.2(MPL):c.844G>A (p.Gly282Arg) http://identifiers.org/clinvar/240707 ^@ NM_006922.3(SCN3A):c.2008C>T (p.Leu670Phe) http://identifiers.org/clinvar/237813 ^@ NM_000465.3(BARD1):c.1018A>T (p.Ile340Phe) http://identifiers.org/clinvar/239806 ^@ NM_004304.4(ALK):c.2478C>T (p.Tyr826=) http://identifiers.org/clinvar/237412 ^@ NM_000251.2(MSH2):c.843A>T (p.Ser281=) http://identifiers.org/clinvar/237362 ^@ NM_000251.2(MSH2):c.1225C>G (p.Gln409Glu) http://identifiers.org/clinvar/237212 ^@ NM_000179.2(MSH6):c.628-8C>T http://identifiers.org/clinvar/237161 ^@ NM_000179.2(MSH6):c.2569G>A (p.Asp857Asn) http://identifiers.org/clinvar/241007 ^@ NM_015120.4(ALMS1):c.6238G>A (p.Glu2080Lys) http://identifiers.org/clinvar/238113 ^@ NM_000551.3(VHL):c.71G>A (p.Gly24Asp) http://identifiers.org/clinvar/237763 ^@ NM_000388.3(CASR):c.2039G>A (p.Arg680His) http://identifiers.org/clinvar/237312 ^@ NM_000249.3(MLH1):c.1410-10T>G http://identifiers.org/clinvar/242196 ^@ NM_198056.2(SCN5A):c.3542T>C (p.Val1181Ala) http://identifiers.org/clinvar/240056 ^@ NM_004656.3(BAP1):c.2091C>T (p.Ser697=) http://identifiers.org/clinvar/240357 ^@ NM_006206.4(PDGFRA):c.674A>G (p.Tyr225Cys) http://identifiers.org/clinvar/240307 ^@ NM_006206.4(PDGFRA):c.1422G>A (p.Thr474=) http://identifiers.org/clinvar/237262 ^@ NM_000222.2(KIT):c.2473G>A (p.Val825Ile) http://identifiers.org/clinvar/242246 ^@ NM_198253.2(TERT):c.885C>T (p.Ser295=) http://identifiers.org/clinvar/240207 ^@ NM_005732.3(RAD50):c.1042G>A (p.Val348Ile) http://identifiers.org/clinvar/239656 ^@ NM_004168.3(SDHA):c.1750G>A (p.Ala584Thr) http://identifiers.org/clinvar/241846 ^@ NM_138694.3(PKHD1):c.5199C>A (p.Thr1733=) http://identifiers.org/clinvar/260356 ^@ NM_014208.3(DSPP):c.136-33T>C http://identifiers.org/clinvar/258066 ^@ NM_001369.2(DNAH5):c.9150C>T (p.Ser3050=) http://identifiers.org/clinvar/258016 ^@ NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) http://identifiers.org/clinvar/260056 ^@ NM_006846.3(SPINK5):c.882+20A>G http://identifiers.org/clinvar/263045 ^@ NM_182925.4(FLT4):c.3219+37G>C http://identifiers.org/clinvar/257366 ^@ NM_001080479.2(ARHGEF28):c.3018C>T (p.Tyr1006=) http://identifiers.org/clinvar/260856 ^@ NM_017651.4(AHI1):c.3328+17C>G http://identifiers.org/clinvar/262195 ^@ NM_033071.3(SYNE1):c.2749-25C>T http://identifiers.org/clinvar/261106 ^@ NM_019105.6(TNXB):c.11381-45T>C http://identifiers.org/clinvar/261156 ^@ NM_019105.6(TNXB):c.7251A>G (p.Leu2417=) http://identifiers.org/clinvar/255827 ^@ NM_000322.4(PRPH2):c.829-48C>T http://identifiers.org/clinvar/262395 ^@ NM_138694.3(PKHD1):c.2407+37A>T http://identifiers.org/clinvar/259355 ^@ NM_004370.5(COL12A1):c.8980T>C (p.Ser2994Pro) http://identifiers.org/clinvar/257516 ^@ NM_001127500.2(MET):c.3858C>T (p.Ser1286=) http://identifiers.org/clinvar/261056 ^@ NM_018718.2(CEP41):c.786G>A (p.Pro262=) http://identifiers.org/clinvar/257916 ^@ NM_001277115.1(DNAH11):c.6042-12T>C http://identifiers.org/clinvar/257866 ^@ NM_001277115.1(DNAH11):c.13050-11C>A http://identifiers.org/clinvar/257266 ^@ NM_001040167.1(LFNG):c.482-4A>G http://identifiers.org/clinvar/260756 ^@ NM_016616.4(NME8):c.1544+22G>A http://identifiers.org/clinvar/255427 ^@ NM_000168.5(GLI3):c.2104-50C>T http://identifiers.org/clinvar/258166 ^@ NM_001540.3(HSPB1):c.24C>T (p.Phe8=) http://identifiers.org/clinvar/260256 ^@ NM_012431.2(SEMA3E):c.623G>C (p.Arg208Pro) http://identifiers.org/clinvar/263095 ^@ NM_194456.1(KRIT1):c.1411+20_1411+24delGTTAT http://identifiers.org/clinvar/256177 ^@ NM_000445.4(PLEC):c.7506+37C>T http://identifiers.org/clinvar/261306 ^@ NM_020476.2(ANK1):c.3486C>T (p.Ser1162=) http://identifiers.org/clinvar/260906 ^@ NM_017780.3(CHD7):c.4851-31C>T http://identifiers.org/clinvar/262745 ^@ NM_153704.5(TMEM67):c.2448G>A (p.Leu816=) http://identifiers.org/clinvar/260406 ^@ NM_014425.4(INVS):c.1284T>C (p.His428=) http://identifiers.org/clinvar/259806 ^@ NM_005592.3(MUSK):c.1991A>G (p.Asn664Ser) http://identifiers.org/clinvar/260506 ^@ NM_015046.5(SETX):c.4755T>G (p.Pro1585=) http://identifiers.org/clinvar/262445 ^@ NM_139025.4(ADAMTS13):c.3287G>A (p.Arg1096His) http://identifiers.org/clinvar/255077 ^@ NM_000093.4(COL5A1):c.3475-36A>C http://identifiers.org/clinvar/262545 ^@ NM_144966.5(FREM1):c.6428A>C (p.Gln2143Pro) http://identifiers.org/clinvar/260206 ^@ NM_012144.3(DNAI1):c.660C>T (p.Asn220=) http://identifiers.org/clinvar/262095 ^@ NM_032634.3(PIGO):c.1404A>C (p.Ala468=) http://identifiers.org/clinvar/255677 ^@ NM_000264.3(PTCH1):c.2560+9G>C http://identifiers.org/clinvar/262845 ^@ NM_173551.4(ANKS6):c.1767G>A (p.Ala589=) http://identifiers.org/clinvar/260456 ^@ NM_014915.2(ANKRD26):c.1269+7_1269+12delinsA http://identifiers.org/clinvar/262145 ^@ NM_033056.3(PCDH15):c.1590+20A>G http://identifiers.org/clinvar/259455 ^@ NM_004621.5(TRPC6):c.1683T>C (p.Asn561=) http://identifiers.org/clinvar/260806 ^@ NM_016952.4(CDON):c.9G>A (p.Pro3=) http://identifiers.org/clinvar/257966 ^@ NM_001360.2(DHCR7):c.549C>T (p.Cys183=) http://identifiers.org/clinvar/259656 ^@ NM_005169.3(PHOX2A):c.217+19C>A http://identifiers.org/clinvar/262245 ^@ NM_052845.3(MMAB):c.333C>T (p.Ala111=) http://identifiers.org/clinvar/258216 ^@ NM_001844.4(COL2A1):c.1735-24T>C http://identifiers.org/clinvar/261845 ^@ NM_025114.3(CEP290):c.4704+46delT http://identifiers.org/clinvar/258266 ^@ NM_001845.5(COL4A1):c.903+18G>A http://identifiers.org/clinvar/255627 ^@ NM_000257.3(MYH7):c.1579-47C>T http://identifiers.org/clinvar/255377 ^@ NM_000153.3(GALC):c.443-12T>G http://identifiers.org/clinvar/255727 ^@ NM_000275.2(OCA2):c.2058A>C (p.Ala686=) http://identifiers.org/clinvar/254877 ^@ NM_000070.2(CAPN3):c.946-34G>A http://identifiers.org/clinvar/262895 ^@ NM_174916.2(UBR1):c.4700+12A>G http://identifiers.org/clinvar/332851 ^@ NM_133378.4(TTN):c.40350C>T (p.Ala13450=) http://identifiers.org/clinvar/335042 ^@ NM_002242.4(KCNJ13):c.*692T>C http://identifiers.org/clinvar/335792 ^@ NM_000379.3(XDH):c.1134C>T (p.Gly378=) http://identifiers.org/clinvar/335142 ^@ NM_004369.3(COL6A3):c.1313-7C>T http://identifiers.org/clinvar/333101 ^@ NM_000393.4(COL5A2):c.*1764G>T http://identifiers.org/clinvar/335942 ^@ NM_000104.3(CYP1B1):c.*466G>A http://identifiers.org/clinvar/333151 ^@ NM_000393.4(COL5A2):c.532C>T (p.His178Tyr) http://identifiers.org/clinvar/335992 ^@ NM_005633.3(SOS1):c.*1589T>G http://identifiers.org/clinvar/335292 ^@ NM_000030.2(AGXT):c.-23G>A http://identifiers.org/clinvar/333201 ^@ NM_000534.4(PMS1):c.171C>T (p.Asn57=) http://identifiers.org/clinvar/336042 ^@ NM_022436.2(ABCG5):c.1163C>T (p.Thr388Met) http://identifiers.org/clinvar/335342 ^@ NM_152783.4(D2HGDH):c.*553G>T http://identifiers.org/clinvar/335392 ^@ NM_000183.2(HADHB):c.-235delT http://identifiers.org/clinvar/333301 ^@ NM_002156.4(HSPD1):c.*454T>G http://identifiers.org/clinvar/333051 ^@ NM_000090.3(COL3A1):c.583-7T>C http://identifiers.org/clinvar/333401 ^@ NM_001006657.1(WDR35):c.798C>T (p.Ser266=) http://identifiers.org/clinvar/336242 ^@ NM_001430.4(EPAS1):c.218-11C>T http://identifiers.org/clinvar/336292 ^@ NM_001430.4(EPAS1):c.*540delT http://identifiers.org/clinvar/335642 ^@ NM_001029883.2(C2orf71):c.3044C>A (p.Ser1015Tyr) http://identifiers.org/clinvar/335842 ^@ NM_014946.3(SPAST):c.*256A>G http://identifiers.org/clinvar/333851 ^@ NM_014929.3(FASTKD2):c.*3112A>G http://identifiers.org/clinvar/333501 ^@ NM_001228.4(CASP8):c.711+6C>T http://identifiers.org/clinvar/333551 ^@ NM_001044385.2(TMEM237):c.*1108A>G http://identifiers.org/clinvar/333601 ^@ NM_020919.3(ALS2):c.248T>G (p.Ile83Ser) http://identifiers.org/clinvar/336142 ^@ NM_133259.3(LRPPRC):c.*343C>T http://identifiers.org/clinvar/333751 ^@ NM_012092.3(ICOS):c.*1024C>T http://identifiers.org/clinvar/334152 ^@ NM_000384.2(APOB):c.3595G>A (p.Asp1199Asn) http://identifiers.org/clinvar/333901 ^@ NM_015040.3(PIKFYVE):c.2331+12T>A http://identifiers.org/clinvar/334052 ^@ NM_001875.4(CPS1):c.*976C>T http://identifiers.org/clinvar/333951 ^@ NM_015040.3(PIKFYVE):c.*798A>G http://identifiers.org/clinvar/334102 ^@ NM_000384.2(APOB):c.11312A>T (p.Tyr3771Phe) http://identifiers.org/clinvar/342289 ^@ NM_016247.3(IMPG2):c.*2658G>T http://identifiers.org/clinvar/342539 ^@ NM_198196.2(CD96):c.1292C>T (p.Pro431Leu) http://identifiers.org/clinvar/334892 ^@ NM_004509.3(SP110):c.1982T>C (p.Leu661Pro) http://identifiers.org/clinvar/335092 ^@ NM_004369.3(COL6A3):c.*426G>A http://identifiers.org/clinvar/342889 ^@ NM_053025.3(MYLK):c.2564C>T (p.Ala855Val) http://identifiers.org/clinvar/334842 ^@ NM_025243.3(SLC19A3):c.*1839G>A http://identifiers.org/clinvar/343089 ^@ NM_025265.3(TSEN2):c.*458C>T http://identifiers.org/clinvar/342439 ^@ NM_000551.3(VHL):c.*1513A>G http://identifiers.org/clinvar/342589 ^@ NM_198196.2(CD96):c.*2094delG http://identifiers.org/clinvar/335592 ^@ NM_001029883.2(C2orf71):c.*2022G>A http://identifiers.org/clinvar/335192 ^@ NM_004544.3(NDUFA10):c.*438C>T http://identifiers.org/clinvar/342689 ^@ NM_020754.3(ARHGAP31):c.*1089C>T http://identifiers.org/clinvar/335692 ^@ NM_004304.4(ALK):c.3633C>A (p.Thr1211=) http://identifiers.org/clinvar/342739 ^@ NM_000187.3(HGD):c.1027A>C (p.Met343Leu) http://identifiers.org/clinvar/335742 ^@ NM_000379.3(XDH):c.*945C>A http://identifiers.org/clinvar/342839 ^@ NM_053025.3(MYLK):c.*1031C>A http://identifiers.org/clinvar/335442 ^@ NM_194248.2(OTOF):c.2807T>A (p.Val936Asp) http://identifiers.org/clinvar/343878 ^@ NM_004733.3(SLC33A1):c.1068G>A (p.Gln356=) http://identifiers.org/clinvar/335542 ^@ NM_015636.3(EIF2B4):c.339G>C (p.Leu113=) http://identifiers.org/clinvar/335892 ^@ NM_014946.3(SPAST):c.*3013T>C http://identifiers.org/clinvar/342989 ^@ NM_000373.3(UMPS):c.*2884A>G http://identifiers.org/clinvar/343039 ^@ NM_000373.3(UMPS):c.*4876C>G http://identifiers.org/clinvar/343978 ^@ NM_020800.2(IFT80):c.634T>C (p.Tyr212His) http://identifiers.org/clinvar/343139 ^@ NM_032638.4(GATA2):c.710G>A (p.Gly237Asp) http://identifiers.org/clinvar/354494 ^@ NM_004385.4(VCAN):c.*1548delT http://identifiers.org/clinvar/357634 ^@ NM_183227.2(RAB23):c.*618A>G http://identifiers.org/clinvar/357684 ^@ NM_001142800.1(EYS):c.*98A>G http://identifiers.org/clinvar/354894 ^@ NM_007214.4(SEC63):c.1936-4_1936-3insTTT http://identifiers.org/clinvar/355395 ^@ NM_006208.2(ENPP1):c.*1670T>C http://identifiers.org/clinvar/355645 ^@ NM_003764.3(STX11):c.*3104delT http://identifiers.org/clinvar/358773 ^@ NM_006193.2(PAX4):c.*722T>C http://identifiers.org/clinvar/358823 ^@ NM_000230.2(LEP):c.*204C>T http://identifiers.org/clinvar/355845 ^@ NM_033071.3(SYNE1):c.18668A>T (p.Gln6223Leu) http://identifiers.org/clinvar/352155 ^@ NM_005211.3(CSF1R):c.1179G>A (p.Thr393=) http://identifiers.org/clinvar/359523 ^@ NM_001101426.3(ISPD):c.*2368_*2373delTTATAT http://identifiers.org/clinvar/352055 ^@ NM_000112.3(SLC26A2):c.*1970G>T http://identifiers.org/clinvar/359673 ^@ NM_001277115.1(DNAH11):c.10573T>C (p.Leu3525=) http://identifiers.org/clinvar/352505 ^@ NM_001099287.1(NIPAL4):c.78C>A (p.Gly26=) http://identifiers.org/clinvar/359973 ^@ NM_006735.3(HOXA2):c.*316T>C http://identifiers.org/clinvar/356634 ^@ NM_005943.5(MOCS1):c.*1168C>T http://identifiers.org/clinvar/352405 ^@ NM_000337.5(SGCD):c.*5348T>C http://identifiers.org/clinvar/360173 ^@ NM_000168.5(GLI3):c.*2276T>C http://identifiers.org/clinvar/356784 ^@ NM_000322.4(PRPH2):c.-166G>A http://identifiers.org/clinvar/356884 ^@ NM_006502.2(POLH):c.-285C>A http://identifiers.org/clinvar/352555 ^@ NM_002187.2(IL12B):c.*1082delC http://identifiers.org/clinvar/360373 ^@ NM_014855.2(AP5Z1):c.*1039G>T http://identifiers.org/clinvar/360573 ^@ NM_000048.3(ASL):c.*268G>C http://identifiers.org/clinvar/353055 ^@ NM_014244.4(ADAMTS2):c.*1919T>G http://identifiers.org/clinvar/360673 ^@ NM_000501.3(ELN):c.*562A>C http://identifiers.org/clinvar/353105 ^@ NM_014244.4(ADAMTS2):c.2382G>A (p.Glu794=) http://identifiers.org/clinvar/360723 ^@ NM_000941.2(POR):c.*21C>A http://identifiers.org/clinvar/353005 ^@ NM_000505.3(F12):c.-8C>T http://identifiers.org/clinvar/357384 ^@ NM_138694.3(PKHD1):c.*1492_*1497delTTTGGA http://identifiers.org/clinvar/357534 ^@ NM_001723.5(DST):c.*595G>C http://identifiers.org/clinvar/353205 ^@ NM_004168.3(SDHA):c.1580G>A (p.Arg527His) http://identifiers.org/clinvar/357784 ^@ NM_018368.3(LMBRD1):c.-88C>G http://identifiers.org/clinvar/299964 ^@ NM_002900.2(RBP3):c.2481C>T (p.Pro827=) http://identifiers.org/clinvar/300314 ^@ NM_001083116.1(PRF1):c.*664A>G http://identifiers.org/clinvar/300364 ^@ NM_018344.5(SLC29A3):c.797C>T (p.Ala266Val) http://identifiers.org/clinvar/307118 ^@ NM_021625.4(TRPV4):c.*212G>A http://identifiers.org/clinvar/307168 ^@ NM_001681.3(ATP2A2):c.1096-12C>G http://identifiers.org/clinvar/364621 ^@ NM_000031.5(ALAD):c.*1811_*1812delAA http://identifiers.org/clinvar/307518 ^@ NM_001414.3(EIF2B1):c.*464A>G http://identifiers.org/clinvar/307568 ^@ NM_024809.4(TCTN2):c.*412T>C http://identifiers.org/clinvar/307618 ^@ NM_012463.3(ATP6V0A2):c.*1693C>G http://identifiers.org/clinvar/364721 ^@ NM_012210.3(TRIM32):c.*84A>C http://identifiers.org/clinvar/365271 ^@ NM_007171.3(POMT1):c.-168G>C http://identifiers.org/clinvar/365471 ^@ NM_000368.4(TSC1):c.*1612C>A http://identifiers.org/clinvar/365571 ^@ NM_014694.3(ADAMTSL2):c.58G>A (p.Val20Ile) http://identifiers.org/clinvar/309207 ^@ NM_000217.2(KCNA1):c.*4152A>G http://identifiers.org/clinvar/298325 ^@ NM_000195.4(HPS1):c.*626C>T http://identifiers.org/clinvar/365521 ^@ NM_000368.4(TSC1):c.-80-10T>C http://identifiers.org/clinvar/365671 ^@ NM_000787.3(DBH):c.1645C>T (p.Arg549Cys) http://identifiers.org/clinvar/309457 ^@ NM_000020.2(ACVRL1):c.*869C>T http://identifiers.org/clinvar/309757 ^@ NM_001173467.2(SP7):c.*411_*413delCTT http://identifiers.org/clinvar/365922 ^@ NM_006412.3(AGPAT2):c.646A>T (p.Lys216Ter) http://identifiers.org/clinvar/309857 ^@ NM_001029.3(RPS26):c.-22C>G http://identifiers.org/clinvar/365972 ^@ NM_016219.4(MAN1B1):c.1897-12G>A http://identifiers.org/clinvar/366022 ^@ NM_024757.4(EHMT1):c.2922G>A (p.Thr974=) http://identifiers.org/clinvar/366072 ^@ NM_144966.5(FREM1):c.*1558C>G http://identifiers.org/clinvar/366472 ^@ NM_000459.4(TEK):c.*558T>C http://identifiers.org/clinvar/310157 ^@ NM_001038.5(SCNN1A):c.-55+5G>C http://identifiers.org/clinvar/366172 ^@ NM_144966.5(FREM1):c.456A>G (p.Gln152=) http://identifiers.org/clinvar/310257 ^@ NM_014319.4(LEMD3):c.*1305T>G http://identifiers.org/clinvar/306618 ^@ NM_018979.3(WNK1):c.6442C>G (p.Leu2148Val) http://identifiers.org/clinvar/306668 ^@ NM_018979.3(WNK1):c.*176C>A http://identifiers.org/clinvar/303013 ^@ NM_005422.2(TECTA):c.3138C>T (p.Ala1046=) http://identifiers.org/clinvar/312751 ^@ NM_000270.3(PNP):c.*1146A>C http://identifiers.org/clinvar/322175 ^@ NM_016239.3(MYO15A):c.9083+7G>A http://identifiers.org/clinvar/312901 ^@ NM_000257.3(MYH7):c.3934C>T (p.Leu1312=) http://identifiers.org/clinvar/322525 ^@ NM_001045.5(SLC6A4):c.*407G>A http://identifiers.org/clinvar/322725 ^@ NM_145068.3(TRPV3):c.*1112_*1113delTG http://identifiers.org/clinvar/322925 ^@ NM_004937.2(CTNS):c.*2717A>G http://identifiers.org/clinvar/342039 ^@ NM_024105.3(ALG12):c.1449G>A (p.Arg483=) http://identifiers.org/clinvar/342239 ^@ NM_000487.5(ARSA):c.225-5C>T http://identifiers.org/clinvar/323525 ^@ NM_000342.3(SLC4A1):c.-136C>T http://identifiers.org/clinvar/368040 ^@ NM_000033.3(ABCD1):c.-342G>A http://identifiers.org/clinvar/368140 ^@ NM_171998.3(RAB39B):c.*1006A>G http://identifiers.org/clinvar/368340 ^@ NM_003334.3(UBA1):c.1742-11G>C http://identifiers.org/clinvar/368540 ^@ NM_005448.2(BMP15):c.598C>T (p.His200Tyr) http://identifiers.org/clinvar/368640 ^@ NM_002637.3(PHKA1):c.*467T>C http://identifiers.org/clinvar/317089 ^@ NM_022369.3(STRA6):c.*127T>C http://identifiers.org/clinvar/317139 ^@ NM_002435.2(MPI):c.472G>A (p.Val158Ile) http://identifiers.org/clinvar/317239 ^@ NM_000326.4(RLBP1):c.306A>C (p.Ala102=) http://identifiers.org/clinvar/315300 ^@ NM_139057.3(ADAMTS17):c.1208A>G (p.His403Arg) http://identifiers.org/clinvar/315500 ^@ NM_002420.5(TRPM1):c.3853G>A (p.Glu1285Lys) http://identifiers.org/clinvar/315600 ^@ NM_133647.1(SLC12A6):c.*719dupT http://identifiers.org/clinvar/315650 ^@ NM_005159.4(ACTC1):c.*1797C>A http://identifiers.org/clinvar/315800 ^@ NM_002225.3(IVD):c.888-5G>A http://identifiers.org/clinvar/317740 ^@ NM_000246.3(CIITA):c.*524A>G http://identifiers.org/clinvar/317990 ^@ NM_014714.3(IFT140):c.4040+11G>A http://identifiers.org/clinvar/316200 ^@ NM_001482.2(GATM):c.*940C>T http://identifiers.org/clinvar/318040 ^@ NM_014714.3(IFT140):c.2935G>A (p.Glu979Lys) http://identifiers.org/clinvar/316300 ^@ NM_000138.4(FBN1):c.*2556G>A http://identifiers.org/clinvar/373190 ^@ NM_001256850.1(TTN):c.82631G>A (p.Trp27544Ter) http://identifiers.org/clinvar/372682 ^@ NM_002880.3(RAF1):c.331C>T (p.Arg111Cys) http://identifiers.org/clinvar/373340 ^@ NM_024582.4(FAT4):c.9596A>G (p.Tyr3199Cys) http://identifiers.org/clinvar/372734 ^@ NM_000089.3(COL1A2):c.586G>T (p.Gly196Cys) http://identifiers.org/clinvar/372580 ^@ NM_032380.4(GFM2):c.1220+2dupT http://identifiers.org/clinvar/373290 ^@ NM_003165.3(STXBP1):c.37_37+1delAG http://identifiers.org/clinvar/373090 ^@ NM_007373.3(SHOC2):c.517A>G (p.Met173Val) http://identifiers.org/clinvar/373240 ^@ NM_001876.3(CPT1A):c.1394G>A (p.Gly465Glu) http://identifiers.org/clinvar/372784 ^@ NM_000359.2(TGM1):c.420A>G (p.Ile140Met) http://identifiers.org/clinvar/372630 ^@ NM_024105.3(ALG12):c.162+1G>T http://identifiers.org/clinvar/373140 ^@ NM_000444.5(PHEX):c.2028_2032dupCACAT (p.Phe678Serfs) http://identifiers.org/clinvar/378803 ^@ NM_001256850.1(TTN):c.10361-5251C>A http://identifiers.org/clinvar/388080 ^@ NM_015120.4(ALMS1):c.3571A>G (p.Thr1191Ala) http://identifiers.org/clinvar/380455 ^@ NM_205847.2(GMPPA):c.441G>A (p.Thr147=) http://identifiers.org/clinvar/385691 ^@ NM_000751.2(CHRND):c.414C>T (p.Phe138=) http://identifiers.org/clinvar/387930 ^@ NM_005677.3(COLQ):c.815-5C>T http://identifiers.org/clinvar/385741 ^@ NM_005633.3(SOS1):c.3996T>C (p.Ser1332=) http://identifiers.org/clinvar/388730 ^@ NM_015560.2(OPA1):c.2808G>C (p.Ala936=) http://identifiers.org/clinvar/386691 ^@ NM_000249.3(MLH1):c.600A>G (p.Thr200=) http://identifiers.org/clinvar/386341 ^@ NM_001148.4(ANK2):c.3074G>T (p.Gly1025Val) http://identifiers.org/clinvar/379553 ^@ NM_001148.4(ANK2):c.8843C>G (p.Ala2948Gly) http://identifiers.org/clinvar/380004 ^@ NM_005051.2(QARS):c.977-13C>A http://identifiers.org/clinvar/389819 ^@ NM_001148.4(ANK2):c.1386T>A (p.Ile462=) http://identifiers.org/clinvar/379103 ^@ NM_001148.4(ANK2):c.4320G>A (p.Leu1440=) http://identifiers.org/clinvar/377854 ^@ NM_024582.4(FAT4):c.4303A>G (p.Ile1435Val) http://identifiers.org/clinvar/386791 ^@ NM_000551.3(VHL):c.315G>A (p.Thr105=) http://identifiers.org/clinvar/378853 ^@ NM_000551.3(VHL):c.336C>T (p.Tyr112=) http://identifiers.org/clinvar/384891 ^@ NM_014324.5(AMACR):c.553-4A>G http://identifiers.org/clinvar/385841 ^@ NM_018341.2(ERMARD):c.960G>A (p.Glu320=) http://identifiers.org/clinvar/380104 ^@ NM_005654.5(NR2F1):c.-33C>T http://identifiers.org/clinvar/381546 ^@ NM_001024630.3(RUNX2):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/386191 ^@ NM_033071.3(SYNE1):c.1275G>T (p.Leu425=) http://identifiers.org/clinvar/380756 ^@ NM_014476.5(PDLIM3):c.246G>A (p.Arg82=) http://identifiers.org/clinvar/382248 ^@ NM_000038.5(APC):c.-14A>G http://identifiers.org/clinvar/381646 ^@ NM_005431.1(XRCC2):c.498G>C (p.Val166=) http://identifiers.org/clinvar/377453 ^@ NM_018238.3(AGK):c.1131+11A>G http://identifiers.org/clinvar/377704 ^@ NM_014141.5(CNTNAP2):c.939+14C>T http://identifiers.org/clinvar/385541 ^@ NM_001999.3(FBN2):c.2469C>T (p.Asn823=) http://identifiers.org/clinvar/383751 ^@ NM_000501.3(ELN):c.528G>A (p.Lys176=) http://identifiers.org/clinvar/377954 ^@ NM_000238.3(KCNH2):c.1320G>A (p.Pro440=) http://identifiers.org/clinvar/388230 ^@ NM_000722.3(CACNA2D1):c.-40C>G http://identifiers.org/clinvar/380054 ^@ NM_002887.3(RARS):c.1188A>G (p.Leu396=) http://identifiers.org/clinvar/385241 ^@ NM_007171.3(POMT1):c.1432-12C>T http://identifiers.org/clinvar/392579 ^@ NM_006904.6(PRKDC):c.7114C>T (p.Pro2372Ser) http://identifiers.org/clinvar/383650 ^@ NM_016035.4(COQ4):c.356C>T (p.Pro119Leu) http://identifiers.org/clinvar/380154 ^@ NM_001167734.1(VARS2):c.1435T>C (p.Trp479Arg) http://identifiers.org/clinvar/379253 ^@ NM_152732.4(RSPH9):c.333T>G (p.Tyr111Ter) http://identifiers.org/clinvar/388530 ^@ NM_003165.3(STXBP1):c.1107G>A (p.Glu369=) http://identifiers.org/clinvar/133033 ^@ NM_000540.2(RYR1):c.12149C>A (p.Ser4050Tyr) http://identifiers.org/clinvar/133083 ^@ NM_000540.2(RYR1):c.14645C>T (p.Thr4882Met) http://identifiers.org/clinvar/135213 ^@ NM_014159.6(SETD2):c.2575A>T (p.Thr859Ser) http://identifiers.org/clinvar/135264 ^@ NM_005631.4(SMO):c.2344G>A (p.Asp782Asn) http://identifiers.org/clinvar/185315 ^@ NM_002878.3(RAD51D):c.900A>G (p.Arg300=) http://identifiers.org/clinvar/185265 ^@ NM_007294.3(BRCA1):c.5571G>C (p.Gln1857His) http://identifiers.org/clinvar/184426 ^@ NM_007294.3(BRCA1):c.5094A>G (p.Glu1698=) http://identifiers.org/clinvar/185565 ^@ NM_007294.3(BRCA1):c.4269C>T (p.Ser1423=) http://identifiers.org/clinvar/186015 ^@ NM_032043.2(BRIP1):c.2594G>A (p.Arg865Gln) http://identifiers.org/clinvar/185615 ^@ NM_032043.2(BRIP1):c.2545T>C (p.Phe849Leu) http://identifiers.org/clinvar/185165 ^@ NM_032043.2(BRIP1):c.2329C>T (p.Arg777Cys) http://identifiers.org/clinvar/185465 ^@ NM_032043.2(BRIP1):c.1124C>T (p.Ala375Val) http://identifiers.org/clinvar/184326 ^@ NM_005359.5(SMAD4):c.875C>T (p.Pro292Leu) http://identifiers.org/clinvar/184026 ^@ NM_000455.4(STK11):c.1038C>T (p.Gly346=) http://identifiers.org/clinvar/184376 ^@ NM_000455.4(STK11):c.1050C>T (p.Asp350=) http://identifiers.org/clinvar/185965 ^@ NM_000455.4(STK11):c.1108G>A (p.Gly370Arg) http://identifiers.org/clinvar/188970 ^@ NM_000642.2(AGL):c.4197delA (p.Ala1400Leufs) http://identifiers.org/clinvar/189021 ^@ NM_000030.2(AGXT):c.346G>A (p.Gly116Arg) http://identifiers.org/clinvar/188920 ^@ NM_000128.3(F11):c.751C>T (p.Gln251Ter) http://identifiers.org/clinvar/189171 ^@ NM_138694.3(PKHD1):c.1458C>A (p.Tyr486Ter) http://identifiers.org/clinvar/189071 ^@ NM_024685.3(BBS10):c.728_731delAAGA (p.Lys243Ilefs) http://identifiers.org/clinvar/189121 ^@ NM_000053.3(ATP7B):c.2668G>A (p.Val890Met) http://identifiers.org/clinvar/189238 ^@ NM_178170.2(NEK8):c.47+1delG http://identifiers.org/clinvar/189290 ^@ NM_000894.2(LHB):c.183+1G>C http://identifiers.org/clinvar/189350 ^@ NM_004625.3(WNT7A):c.487G>A (p.Ala163Thr) http://identifiers.org/clinvar/189439 ^@ NM_000314.6(PTEN):c.-733dupG http://identifiers.org/clinvar/189501 ^@ NM_000314.6(PTEN):c.560A>G (p.Asp187Gly) http://identifiers.org/clinvar/189611 ^@ NM_005249.4(FOXG1):c.256C>T (p.Gln86Ter) http://identifiers.org/clinvar/189761 ^@ NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?)) http://identifiers.org/clinvar/189561 ^@ NM_003159.2(CDKL5):c.-162-?_*85del http://identifiers.org/clinvar/189661 ^@ NM_004992.3(MECP2):c.1157_*944del1249 http://identifiers.org/clinvar/189711 ^@ NM_004992.3(MECP2):c.488_1189del702 (p.Gly163_Ser396del) http://identifiers.org/clinvar/189845 ^@ NM_001165963.1(SCN1A):c.5003C>G (p.Pro1668Arg) http://identifiers.org/clinvar/189895 ^@ NM_001165963.1(SCN1A):c.2523_2524delGC (p.Leu842Terfs) http://identifiers.org/clinvar/189945 ^@ NM_001165963.1(SCN1A):c.1033T>C (p.Cys345Arg) http://identifiers.org/clinvar/189995 ^@ NM_001165963.1(SCN1A):c.4285_4476del http://identifiers.org/clinvar/190111 ^@ NM_144498.2(OSBPL2):c.141_142delTG (p.Arg50Alafs) http://identifiers.org/clinvar/190180 ^@ NM_001110556.1(FLNA):c.1045G>T (p.Glu349Ter) http://identifiers.org/clinvar/190231 ^@ NM_001199.3(BMP1):c.*241T>C http://identifiers.org/clinvar/190312 ^@ NM_014225.5(PPP2R1A):c.544C>T (p.Arg182Trp) http://identifiers.org/clinvar/190364 ^@ NP_002046.1(GFAP):p.Met415Ile http://identifiers.org/clinvar/226854 ^@ NM_016616.4(NME8):c.271-14C>T http://identifiers.org/clinvar/228676 ^@ NM_000503.5(EYA1):c.1318C>T (p.Arg440Trp) http://identifiers.org/clinvar/228976 ^@ NM_017433.4(MYO3A):c.1525T>C (p.Tyr509His) http://identifiers.org/clinvar/227004 ^@ NM_001142771.1(PCDH15):c.4950G>A (p.Lys1650=) http://identifiers.org/clinvar/226904 ^@ NM_001277269.1(OTOG):c.6811G>A (p.Ala2271Thr) http://identifiers.org/clinvar/226954 ^@ NM_173591.3(OTOGL):c.5239-7T>C http://identifiers.org/clinvar/229276 ^@ NM_153700.2(STRC):c.2494C>T (p.Arg832Trp) http://identifiers.org/clinvar/226454 ^@ NM_001089.2(ABCA3):c.990+14C>T http://identifiers.org/clinvar/227155 ^@ NM_001089.2(ABCA3):c.863G>A (p.Arg288Lys) http://identifiers.org/clinvar/228276 ^@ NM_016239.3(MYO15A):c.8183G>A (p.Arg2728His) http://identifiers.org/clinvar/228326 ^@ NM_017950.3(CCDC40):c.940-2A>G http://identifiers.org/clinvar/229026 ^@ NM_003803.3(MYOM1):c.4357A>T (p.Met1453Leu) http://identifiers.org/clinvar/228626 ^@ NM_024422.4(DSC2):c.743_748delATACTT (p.Tyr248_Thr249del) http://identifiers.org/clinvar/226804 ^@ NM_003803.3(MYOM1):c.1803C>T (p.Pro601=) http://identifiers.org/clinvar/228826 ^@ NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) http://identifiers.org/clinvar/226504 ^@ NM_001039213.3(CEACAM16):c.1268-13A>G http://identifiers.org/clinvar/228876 ^@ NM_024729.3(MYH14):c.2975C>T (p.Thr992Met) http://identifiers.org/clinvar/227256 ^@ NM_006012.2(CLPP):c.684C>T (p.Arg228=) http://identifiers.org/clinvar/227456 ^@ NM_000219.5(KCNE1):c.(?_-50)-60_*(181_?)dup http://identifiers.org/clinvar/228926 ^@ NM_002473.5(MYH9):c.3903G>C (p.Lys1301Asn) http://identifiers.org/clinvar/226554 ^@ NM_000395.2(CSF2RB):c.702C>T (p.Cys234=) http://identifiers.org/clinvar/227306 ^@ NM_004006.2(DMD):c.1503A>G (p.Glu501=) http://identifiers.org/clinvar/229376 ^@ NM_144991.2(TSPEAR):c.1937C>T (p.Thr646Met) http://identifiers.org/clinvar/231217 ^@ NM_000535.6(PMS2):c.2381C>G (p.Pro794Arg) http://identifiers.org/clinvar/231067 ^@ NM_000143.3(FH):c.37C>T (p.Pro13Ser) http://identifiers.org/clinvar/231867 ^@ NM_001128425.1(MUTYH):c.1341_1342delTC (p.Ile449Glnfs) http://identifiers.org/clinvar/229778 ^@ NM_001128425.1(MUTYH):c.679G>A (p.Ala227Thr) http://identifiers.org/clinvar/229728 ^@ NM_000251.2(MSH2):c.-68-228G>A http://identifiers.org/clinvar/231817 ^@ NM_000251.2(MSH2):c.-68-197T>A http://identifiers.org/clinvar/230028 ^@ NM_000251.2(MSH2):c.132G>C (p.Thr44=) http://identifiers.org/clinvar/231167 ^@ NM_000251.2(MSH2):c.645+2T>G http://identifiers.org/clinvar/231967 ^@ NM_000251.2(MSH2):c.2515C>G (p.His839Asp) http://identifiers.org/clinvar/230128 ^@ NM_000179.2(MSH6):c.833T>A (p.Ile278Lys) http://identifiers.org/clinvar/229878 ^@ NM_000249.3(MLH1):c.970delG (p.Glu324Serfs) http://identifiers.org/clinvar/231917 ^@ NM_000038.5(APC):c.1553C>T (p.Thr518Met) http://identifiers.org/clinvar/264409 ^@ NM_002474.2(MYH11):c.4774A>C (p.Arg1592=) http://identifiers.org/clinvar/264559 ^@ NM_001943.4(DSG2):c.2702A>G (p.Lys901Arg) http://identifiers.org/clinvar/264609 ^@ NM_000071.2(CBS):c.210-3C>T http://identifiers.org/clinvar/264309 ^@ NM_001456.3(FLNA):c.7281C>T (p.Tyr2427=) http://identifiers.org/clinvar/264724 ^@ NM_001242896.1(DEPDC5):c.783_786delTGAG (p.Asn261LysfsTer11) http://identifiers.org/clinvar/264779 ^@ NM_007294.3(BRCA1):c.441+2009G>A http://identifiers.org/clinvar/265031 ^@ NM_001182.4(ALDH7A1):c.834G>A (p.Val278=) http://identifiers.org/clinvar/265134 ^@ NM_207122.1(EXT2):c.937C>T (p.Gln313Ter) http://identifiers.org/clinvar/265238 ^@ NM_130799.2(MEN1):c.1174delG (p.Glu392Serfs) http://identifiers.org/clinvar/265084 ^@ NM_004380.2(CREBBP):c.6010C>T (p.Arg2004Ter) http://identifiers.org/clinvar/265185 ^@ NM_000516.5(GNAS):c.971-2A>G http://identifiers.org/clinvar/267997 ^@ 46;XY;t(5;8)(q15;q22.1) http://identifiers.org/clinvar/268047 ^@ NM_080675.3(SUN5):c.824C>T (p.Thr275Met) http://identifiers.org/clinvar/268113 ^@ NM_024298.4(MBOAT7):c.423delG (p.Leu142Cysfs) http://identifiers.org/clinvar/268180 ^@ NM_006269.1(RP1):c.4743dupA (p.Cys1582Metfs) http://identifiers.org/clinvar/279593 ^@ NM_001035.2(RYR2):c.7469T>C (p.Val2490Ala) http://identifiers.org/clinvar/291608 ^@ NM_015074.3(KIF1B):c.*1159G>A http://identifiers.org/clinvar/291708 ^@ NM_013296.4(GPSM2):c.1799T>A (p.Ile600Asn) http://identifiers.org/clinvar/291658 ^@ NM_015074.3(KIF1B):c.*4127dupA http://identifiers.org/clinvar/291758 ^@ NM_007375.3(TARDBP):c.*2005T>C http://identifiers.org/clinvar/291808 ^@ NM_006610.3(MASP2):c.296G>A (p.Arg99Gln) http://identifiers.org/clinvar/291858 ^@ NM_003051.3(SLC16A1):c.1228+6G>A http://identifiers.org/clinvar/292597 ^@ NM_000449.3(RFX5):c.*1084A>C http://identifiers.org/clinvar/292497 ^@ NM_004698.2(PRPF3):c.729-15C>T http://identifiers.org/clinvar/292897 ^@ NM_001012331.1(NTRK1):c.2184G>A (p.Thr728=) http://identifiers.org/clinvar/292947 ^@ NM_003126.2(SPTA1):c.6789-9_6789-8dupTT http://identifiers.org/clinvar/292847 ^@ NM_022367.3(SEMA4A):c.494C>T (p.Ser165Leu) http://identifiers.org/clinvar/293047 ^@ NM_003126.2(SPTA1):c.798A>G (p.Leu266=) http://identifiers.org/clinvar/292547 ^@ NM_019032.5(ADAMTSL4):c.2223C>T (p.Pro741=) http://identifiers.org/clinvar/293147 ^@ NM_000702.3(ATP1A2):c.*589G>C http://identifiers.org/clinvar/293547 ^@ NM_000130.4(F5):c.*1488T>C http://identifiers.org/clinvar/293397 ^@ NM_004431.4(EPHA2):c.*443T>C http://identifiers.org/clinvar/293347 ^@ NM_003001.3(SDHC):c.*1335A>G http://identifiers.org/clinvar/292647 ^@ NM_152263.3(TPM3):c.*4194G>A http://identifiers.org/clinvar/293497 ^@ NM_005149.2(TBX19):c.*942_*945delGAAA http://identifiers.org/clinvar/292747 ^@ NM_001111.4(ADAR):c.*413A>T http://identifiers.org/clinvar/292697 ^@ NM_152263.3(TPM3):c.378-13C>T http://identifiers.org/clinvar/293747 ^@ NM_000639.2(FASLG):c.*631_*632dupGT http://identifiers.org/clinvar/292797 ^@ NM_000298.5(PKLR):c.*499G>A http://identifiers.org/clinvar/293647 ^@ NM_000130.4(F5):c.-110C>A http://identifiers.org/clinvar/293697 ^@ NM_006894.5(FMO3):c.1505T>G (p.Val502Gly) http://identifiers.org/clinvar/292997 ^@ NM_003126.2(SPTA1):c.3188+8C>G http://identifiers.org/clinvar/293197 ^@ NM_002857.3(PEX19):c.*2155C>T http://identifiers.org/clinvar/293097 ^@ NM_002241.4(KCNJ10):c.*2014_*2019delGTGTGT http://identifiers.org/clinvar/293247 ^@ NM_000309.3(PPOX):c.69G>T (p.Arg23=) http://identifiers.org/clinvar/293297 ^@ NM_001643.1(APOA2):c.-47C>T http://identifiers.org/clinvar/294197 ^@ NM_031935.2(HMCN1):c.8346G>C (p.Arg2782Ser) http://identifiers.org/clinvar/294247 ^@ NM_031935.2(HMCN1):c.12250C>T (p.His4084Tyr) http://identifiers.org/clinvar/293447 ^@ NM_004431.4(EPHA2):c.453C>T (p.Thr151=) http://identifiers.org/clinvar/294397 ^@ NM_003748.3(ALDH4A1):c.-24G>A http://identifiers.org/clinvar/293597 ^@ NM_000130.4(F5):c.4333A>G (p.Thr1445Ala) http://identifiers.org/clinvar/293797 ^@ NM_022089.3(ATP13A2):c.1195+9C>T http://identifiers.org/clinvar/293847 ^@ NM_014625.3(NPHS2):c.874-13A>G http://identifiers.org/clinvar/293897 ^@ NM_002065.6(GLUL):c.*1978G>A http://identifiers.org/clinvar/293947 ^@ NM_002065.6(GLUL):c.268C>T (p.Arg90Cys) http://identifiers.org/clinvar/344178 ^@ NM_198407.2(GHSR):c.*1506C>A http://identifiers.org/clinvar/344278 ^@ NM_181426.1(CCDC39):c.640C>T (p.Arg214Cys) http://identifiers.org/clinvar/336342 ^@ NM_139279.5(MCFD2):c.*2141G>C http://identifiers.org/clinvar/344478 ^@ NM_015560.2(OPA1):c.-8C>T http://identifiers.org/clinvar/336092 ^@ NM_022437.2(ABCG8):c.1895T>C (p.Val632Ala) http://identifiers.org/clinvar/336192 ^@ NM_000341.3(SLC3A1):c.572A>G (p.Glu191Gly) http://identifiers.org/clinvar/344778 ^@ NM_000404.3(GLB1):c.*354T>C http://identifiers.org/clinvar/344828 ^@ NM_006371.4(CRTAP):c.*910T>C http://identifiers.org/clinvar/344978 ^@ NM_001106.3(ACVR2B):c.*3334G>T http://identifiers.org/clinvar/344328 ^@ NM_003907.2(EIF2B5):c.-103C>G http://identifiers.org/clinvar/344628 ^@ NM_000461.4(THRB):c.*468G>A http://identifiers.org/clinvar/344878 ^@ NM_006371.4(CRTAP):c.*4124G>T http://identifiers.org/clinvar/345078 ^@ NM_198056.2(SCN5A):c.*1443C>A http://identifiers.org/clinvar/345128 ^@ NM_198056.2(SCN5A):c.1491T>G (p.Ser497=) http://identifiers.org/clinvar/346417 ^@ NM_198859.3(PRICKLE2):c.*4733G>A http://identifiers.org/clinvar/342339 ^@ NM_016247.3(IMPG2):c.3142C>T (p.Arg1048Trp) http://identifiers.org/clinvar/342389 ^@ NM_033084.4(FANCD2):c.*408C>T http://identifiers.org/clinvar/342489 ^@ NM_000551.3(VHL):c.*2854G>T http://identifiers.org/clinvar/346817 ^@ NM_014043.3(CHMP2B):c.*968G>A http://identifiers.org/clinvar/347067 ^@ NM_005908.3(MANBA):c.*401G>A http://identifiers.org/clinvar/347217 ^@ NM_198506.4(LRIT3):c.*1516C>A http://identifiers.org/clinvar/342639 ^@ NM_020754.3(ARHGAP31):c.1065G= (p.Val355=) http://identifiers.org/clinvar/342789 ^@ NM_001023570.3(IQCB1):c.-190C>T http://identifiers.org/clinvar/342939 ^@ NM_000373.3(UMPS):c.*526A>G http://identifiers.org/clinvar/347767 ^@ NM_005141.4(FGB):c.4A>G (p.Lys2Glu) http://identifiers.org/clinvar/346567 ^@ NM_032682.5(FOXP1):c.*3413_*3414delTG http://identifiers.org/clinvar/346617 ^@ NM_032682.5(FOXP1):c.*1037_*1040delCTTT http://identifiers.org/clinvar/343678 ^@ NM_031850.3(AGTR1):c.*135C>T http://identifiers.org/clinvar/346717 ^@ NM_002942.4(ROBO2):c.*121G>A http://identifiers.org/clinvar/343828 ^@ NM_005677.3(COLQ):c.*1001G>A http://identifiers.org/clinvar/346867 ^@ NM_000313.3(PROS1):c.*783C>T http://identifiers.org/clinvar/346917 ^@ NM_182896.2(ARL13B):c.*116C>T http://identifiers.org/clinvar/348456 ^@ NM_133330.2(NSD2):c.*183T>C http://identifiers.org/clinvar/354044 ^@ NM_017755.5(NSUN2):c.*50T>G http://identifiers.org/clinvar/354194 ^@ NM_003719.3(PDE8B):c.*648T>G http://identifiers.org/clinvar/353994 ^@ NM_001104631.1(PDE4D):c.1189-9dupT http://identifiers.org/clinvar/354144 ^@ NM_003719.3(PDE8B):c.52C>A (p.Arg18=) http://identifiers.org/clinvar/354444 ^@ NM_004385.4(VCAN):c.7551C>T (p.Asp2517=) http://identifiers.org/clinvar/354644 ^@ NM_000439.4(PCSK1):c.1503C>T (p.Ile501=) http://identifiers.org/clinvar/359223 ^@ NM_014141.5(CNTNAP2):c.*1606delA http://identifiers.org/clinvar/359273 ^@ NM_014141.5(CNTNAP2):c.*4934C>T http://identifiers.org/clinvar/359323 ^@ NM_016203.3(PRKAG2):c.*1040delT http://identifiers.org/clinvar/354794 ^@ NM_001242957.2(MAK):c.1238A>G (p.Tyr413Cys) http://identifiers.org/clinvar/354994 ^@ NM_004752.3(GCM2):c.*746A>G http://identifiers.org/clinvar/355044 ^@ NM_014845.5(FIG4):c.2223G>T (p.Thr741=) http://identifiers.org/clinvar/359623 ^@ NM_001277115.1(DNAH11):c.3808C>G (p.Pro1270Ala) http://identifiers.org/clinvar/355095 ^@ NM_000493.3(COL10A1):c.1328G>A (p.Gly443Asp) http://identifiers.org/clinvar/355345 ^@ NM_006208.2(ENPP1):c.1946-14T>C http://identifiers.org/clinvar/363682 ^@ NM_000503.5(EYA1):c.-565_-564dupAA http://identifiers.org/clinvar/355195 ^@ NM_006073.3(TRDN):c.*1775C>T http://identifiers.org/clinvar/359773 ^@ NM_032581.3(FAM126A):c.1167T>C (p.Thr389=) http://identifiers.org/clinvar/359823 ^@ NM_004403.2(DFNA5):c.*505delA http://identifiers.org/clinvar/355295 ^@ NM_000426.3(LAMA2):c.7344T>C (p.Asn2448=) http://identifiers.org/clinvar/359873 ^@ NM_018947.5(CYCS):c.*4358G>C http://identifiers.org/clinvar/359923 ^@ NM_018947.5(CYCS):c.*1702_*1705dupAACA http://identifiers.org/clinvar/355445 ^@ NM_172105.3(EYA4):c.970+5A>G http://identifiers.org/clinvar/360023 ^@ NM_002047.3(GARS):c.*67C>G http://identifiers.org/clinvar/355695 ^@ NM_203395.2(IYD):c.*553C>A http://identifiers.org/clinvar/355745 ^@ NM_203395.2(IYD):c.*2837C>T http://identifiers.org/clinvar/360273 ^@ NM_000290.3(PGAM2):c.426C>T (p.Tyr142=) http://identifiers.org/clinvar/360423 ^@ NM_000790.3(DDC):c.*341C>T http://identifiers.org/clinvar/360523 ^@ NM_004577.3(PSPH):c.-333C>T http://identifiers.org/clinvar/355795 ^@ NM_033071.3(SYNE1):c.*666_*667delAA http://identifiers.org/clinvar/360623 ^@ NM_153033.4(KCTD7):c.*2806G>A http://identifiers.org/clinvar/365021 ^@ NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) http://identifiers.org/clinvar/365071 ^@ NM_003165.3(STXBP1):c.*1581G>A http://identifiers.org/clinvar/365121 ^@ NM_003863.3(DPM2):c.-382C>T http://identifiers.org/clinvar/356584 ^@ NM_001145717.1(PNPLA1):c.*618G>A http://identifiers.org/clinvar/365321 ^@ NM_015046.5(SETX):c.*1052T>A http://identifiers.org/clinvar/365371 ^@ NM_015046.5(SETX):c.1416A>T (p.Lys472Asn) http://identifiers.org/clinvar/365421 ^@ NM_000368.4(TSC1):c.*3330G>T http://identifiers.org/clinvar/356684 ^@ NM_000409.4(GUCA1A):c.-472A>C http://identifiers.org/clinvar/365621 ^@ NM_014694.3(ADAMTSL2):c.*490C>T http://identifiers.org/clinvar/365771 ^@ NM_000093.4(COL5A1):c.*1343A>G http://identifiers.org/clinvar/356984 ^@ NM_006502.2(POLH):c.*3744G>A http://identifiers.org/clinvar/365821 ^@ NM_014564.4(LHX3):c.456C>T (p.Thr152=) http://identifiers.org/clinvar/365871 ^@ NM_019892.5(INPP5E):c.*727C>T http://identifiers.org/clinvar/356834 ^@ NM_014780.4(CUL7):c.2789G>A (p.Ser930Asn) http://identifiers.org/clinvar/357084 ^@ NM_020745.3(AARS2):c.22G>T (p.Ala8Ser) http://identifiers.org/clinvar/356934 ^@ NM_006502.2(POLH):c.*1103A>G http://identifiers.org/clinvar/357034 ^@ NM_020745.3(AARS2):c.*1284_*1287delAGAA http://identifiers.org/clinvar/357234 ^@ NM_012120.2(CD2AP):c.*2759G>A http://identifiers.org/clinvar/367161 ^@ NM_000170.2(GLDC):c.*546C>T http://identifiers.org/clinvar/303213 ^@ NM_018400.3(SCN3B):c.-725C>G http://identifiers.org/clinvar/311251 ^@ NM_000131.4(F7):c.*770G>A http://identifiers.org/clinvar/311351 ^@ NM_021954.3(GJA3):c.-60G>A http://identifiers.org/clinvar/367340 ^@ NM_033305.2(VPS13A):c.-150C>T http://identifiers.org/clinvar/311451 ^@ NM_002010.2(FGF9):c.*737G>A http://identifiers.org/clinvar/367490 ^@ NM_004560.3(ROR2):c.*245A>G http://identifiers.org/clinvar/311701 ^@ NM_004795.3(KL):c.2247T>C (p.Ala749=) http://identifiers.org/clinvar/311751 ^@ NM_015087.4(SPG20):c.*924C>A http://identifiers.org/clinvar/367640 ^@ NM_000264.3(PTCH1):c.*1702C>T http://identifiers.org/clinvar/311801 ^@ NM_000538.3(RFXAP):c.*1240G>T http://identifiers.org/clinvar/303863 ^@ NM_181507.1(HPS5):c.*182C>T http://identifiers.org/clinvar/312001 ^@ NM_207361.5(FREM2):c.6036C>T (p.Phe2012=) http://identifiers.org/clinvar/312051 ^@ NM_207361.5(FREM2):c.*1321G>A http://identifiers.org/clinvar/312101 ^@ NM_207361.5(FREM2):c.*5542T>A http://identifiers.org/clinvar/303963 ^@ NM_003476.4(CSRP3):c.-195G>A http://identifiers.org/clinvar/312151 ^@ NM_020751.2(COG6):c.*52G>A http://identifiers.org/clinvar/312201 ^@ NM_014252.3(SLC25A15):c.*1494A>G http://identifiers.org/clinvar/312251 ^@ NM_003701.3(TNFSF11):c.*948G>T http://identifiers.org/clinvar/304163 ^@ NM_213599.2(ANO5):c.*3178C>G http://identifiers.org/clinvar/304263 ^@ NM_000218.2(KCNQ1):c.*877C>G http://identifiers.org/clinvar/367590 ^@ NM_000136.2(FANCC):c.*1276C>A http://identifiers.org/clinvar/312651 ^@ NM_001376.4(DYNC1H1):c.11132A>G (p.Gln3711Arg) http://identifiers.org/clinvar/304363 ^@ NM_000280.4(PAX6):c.-147_-146dupGA http://identifiers.org/clinvar/312701 ^@ NM_022489.3(INF2):c.2201T>G (p.Val734Gly) http://identifiers.org/clinvar/304413 ^@ NM_024426.4(WT1):c.*159G>C http://identifiers.org/clinvar/298975 ^@ NM_000141.4(FGFR2):c.*1489C>T http://identifiers.org/clinvar/298675 ^@ NM_000494.3(COL17A1):c.*376C>T http://identifiers.org/clinvar/298725 ^@ NM_000494.3(COL17A1):c.1717+14T>C http://identifiers.org/clinvar/299125 ^@ NM_001609.3(ACADSB):c.*2085C>T http://identifiers.org/clinvar/304763 ^@ NM_018389.4(SLC35C1):c.*1404G>A http://identifiers.org/clinvar/298875 ^@ NM_007373.3(SHOC2):c.*958C>A http://identifiers.org/clinvar/304813 ^@ NM_000506.4(F2):c.915G>A (p.Glu305=) http://identifiers.org/clinvar/305013 ^@ NM_000062.2(SERPING1):c.-36A>T http://identifiers.org/clinvar/299275 ^@ NM_001033855.2(DCLRE1C):c.*1216G>A http://identifiers.org/clinvar/299914 ^@ NM_020975.4(RET):c.*538G>T http://identifiers.org/clinvar/300114 ^@ NM_000242.2(MBL2):c.*2040G>T http://identifiers.org/clinvar/305804 ^@ NM_006019.3(TCIRG1):c.1297C>T (p.Gln433Ter) http://identifiers.org/clinvar/300214 ^@ NM_000417.2(IL2RA):c.*1974C>T http://identifiers.org/clinvar/300264 ^@ NM_000399.4(EGR2):c.*1027A>G http://identifiers.org/clinvar/315350 ^@ NM_144599.4(NIPA1):c.*4156A>G http://identifiers.org/clinvar/315450 ^@ NM_022807.4(SNRPN):c.-20G>T http://identifiers.org/clinvar/300014 ^@ NM_000124.3(ERCC6):c.*1279T>A http://identifiers.org/clinvar/300064 ^@ NM_000124.3(ERCC6):c.2487_2489delAGA (p.Glu829del) http://identifiers.org/clinvar/315700 ^@ NM_005159.4(ACTC1):c.*40G>A http://identifiers.org/clinvar/300164 ^@ NM_033056.3(PCDH15):c.*64A>T http://identifiers.org/clinvar/306568 ^@ NM_030962.3(SBF2):c.*291C>T http://identifiers.org/clinvar/315900 ^@ NM_000070.2(CAPN3):c.*202A>G http://identifiers.org/clinvar/317640 ^@ NM_000875.4(IGF1R):c.*6493C>T http://identifiers.org/clinvar/309657 ^@ NM_006121.3(KRT1):c.-21C>T http://identifiers.org/clinvar/329273 ^@ NM_181882.2(PRX):c.1828G>A (p.Glu610Lys) http://identifiers.org/clinvar/329373 ^@ NM_000709.3(BCKDHA):c.*213G>A http://identifiers.org/clinvar/309807 ^@ NM_002905.3(RDH5):c.-153C>T http://identifiers.org/clinvar/317790 ^@ NM_004862.3(LITAF):c.-65dupA http://identifiers.org/clinvar/317890 ^@ NM_032520.4(GNPTG):c.741+5C>T http://identifiers.org/clinvar/329473 ^@ NM_212550.4(BLOC1S3):c.205C>T (p.Pro69Ser) http://identifiers.org/clinvar/309907 ^@ NM_005379.3(MYO1A):c.2099T>C (p.Leu700Pro) http://identifiers.org/clinvar/329523 ^@ NM_000400.3(ERCC2):c.749A>C (p.Asn250Thr) http://identifiers.org/clinvar/310007 ^@ NM_001172696.1(TSFM):c.69T>A (p.Leu23=) http://identifiers.org/clinvar/311501 ^@ NM_014363.5(SACS):c.12438G>A (p.Ser4146=) http://identifiers.org/clinvar/310057 ^@ NM_000552.4(VWF):c.5664+15G>A http://identifiers.org/clinvar/318242 ^@ NM_004970.2(IGFALS):c.1266C>T (p.Leu422=) http://identifiers.org/clinvar/310107 ^@ NM_001065.3(TNFRSF1A):c.1110C>T (p.Arg370=) http://identifiers.org/clinvar/310207 ^@ NM_002076.3(GNS):c.1153G>A (p.Asp385Asn) http://identifiers.org/clinvar/318492 ^@ NM_153603.3(COG7):c.170-9delT http://identifiers.org/clinvar/310357 ^@ NM_000365.5(TPI1):c.-11G>A http://identifiers.org/clinvar/311851 ^@ NM_001127217.2(SMAD9):c.*2036C>A http://identifiers.org/clinvar/310457 ^@ NM_001131025.1(PEX5):c.*1080T>C http://identifiers.org/clinvar/330462 ^@ NM_000208.3(INSR):c.2295C>T (p.Gly765=) http://identifiers.org/clinvar/318842 ^@ NM_000034.3(ALDOA):c.*76C>T http://identifiers.org/clinvar/312501 ^@ NM_052910.2(SLITRK1):c.1122C>T (p.Leu374=) http://identifiers.org/clinvar/312551 ^@ NM_005708.4(GPC6):c.1485A>T (p.Ser495=) http://identifiers.org/clinvar/312601 ^@ NM_005708.4(GPC6):c.*3723T>G http://identifiers.org/clinvar/311201 ^@ NM_001846.3(COL4A2):c.*101_*102delAA http://identifiers.org/clinvar/311301 ^@ NM_021954.3(GJA3):c.*2231A>G http://identifiers.org/clinvar/311401 ^@ NM_006783.4(GJB6):c.-492C>A http://identifiers.org/clinvar/311651 ^@ NM_015972.3(POLR1D):c.261A>G (p.Arg87=) http://identifiers.org/clinvar/320432 ^@ NM_001361.4(DHODH):c.819+10G>A http://identifiers.org/clinvar/320532 ^@ NM_021615.4(CHST6):c.*3679T>C http://identifiers.org/clinvar/320682 ^@ NM_022041.3(GAN):c.*964C>G http://identifiers.org/clinvar/339249 ^@ NM_017671.4(FERMT1):c.-366C>G http://identifiers.org/clinvar/311901 ^@ NM_001127217.2(SMAD9):c.828C>T (p.Val276=) http://identifiers.org/clinvar/320732 ^@ NM_012213.2(MLYCD):c.1098C>T (p.Ile366=) http://identifiers.org/clinvar/311951 ^@ NM_207361.5(FREM2):c.1737C>T (p.Ile579=) http://identifiers.org/clinvar/339599 ^@ NM_000933.3(PLCB4):c.*230G>C http://identifiers.org/clinvar/340099 ^@ NM_000394.3(CRYAA):c.269A>C (p.Gln90Pro) http://identifiers.org/clinvar/340299 ^@ NM_130445.3(COL18A1):c.*1088C>T http://identifiers.org/clinvar/328273 ^@ NM_000528.3(MAN2B1):c.1131C>T (p.Phe377=) http://identifiers.org/clinvar/342189 ^@ NM_000487.5(ARSA):c.*2023G>C http://identifiers.org/clinvar/328323 ^@ NM_006563.4(KLF1):c.259C>G (p.Pro87Ala) http://identifiers.org/clinvar/367690 ^@ NM_000061.2(BTK):c.*342_*343delTG http://identifiers.org/clinvar/367790 ^@ NM_002294.2(LAMP2):c.-154T>C http://identifiers.org/clinvar/328523 ^@ NM_000215.3(JAK3):c.35C>T (p.Pro12Leu) http://identifiers.org/clinvar/367890 ^@ NM_004208.3(AIFM1):c.606-15C>T http://identifiers.org/clinvar/367990 ^@ NM_001011658.3(TRAPPC2):c.*393G>C http://identifiers.org/clinvar/328723 ^@ NM_001031726.3(C19orf12):c.*437C>G http://identifiers.org/clinvar/328773 ^@ NM_014270.4(SLC7A9):c.-159G>A http://identifiers.org/clinvar/368190 ^@ NM_014271.3(IL1RAPL1):c.83-8dupT http://identifiers.org/clinvar/368240 ^@ NM_004006.2(DMD):c.5923-4C>G http://identifiers.org/clinvar/329073 ^@ NM_000540.2(RYR1):c.7904A>T (p.Glu2635Val) http://identifiers.org/clinvar/329223 ^@ NM_017827.3(SARS2):c.353G>A (p.Arg118Gln) http://identifiers.org/clinvar/327573 ^@ NM_005570.3(LMAN1):c.821C>T (p.Pro274Leu) http://identifiers.org/clinvar/328023 ^@ NM_001128849.1(SMARCA4):c.1104G>A (p.Gln368=) http://identifiers.org/clinvar/330012 ^@ NM_144687.3(NLRP12):c.2753T>C (p.Leu918Pro) http://identifiers.org/clinvar/330262 ^@ NM_006087.3(TUBB4A):c.906G>A (p.Ala302=) http://identifiers.org/clinvar/328373 ^@ NM_000435.2(NOTCH3):c.6506C>G (p.Pro2169Arg) http://identifiers.org/clinvar/328423 ^@ NM_173483.3(CYP4F22):c.51G>A (p.Thr17=) http://identifiers.org/clinvar/328823 ^@ NM_000285.3(PEPD):c.-1C>T http://identifiers.org/clinvar/328923 ^@ NM_001083961.1(WDR62):c.3302C>T (p.Thr1101Met) http://identifiers.org/clinvar/339149 ^@ NM_207034.2(EDN3):c.*756C>T http://identifiers.org/clinvar/339349 ^@ NM_025219.2(DNAJC5):c.-160G>C http://identifiers.org/clinvar/330162 ^@ NM_206828.3(NLRP7):c.2325G>A (p.Pro775=) http://identifiers.org/clinvar/330212 ^@ NM_001256714.1(DNAAF3):c.1234C>T (p.Pro412Ser) http://identifiers.org/clinvar/339499 ^@ NM_015192.3(PLCB1):c.714A>C (p.Pro238=) http://identifiers.org/clinvar/330312 ^@ NM_000064.3(C3):c.2067G>A (p.Glu689=) http://identifiers.org/clinvar/339549 ^@ NM_015192.3(PLCB1):c.*2717G>A http://identifiers.org/clinvar/330362 ^@ NM_000208.3(INSR):c.*3654G>A http://identifiers.org/clinvar/330512 ^@ NM_006702.4(PNPLA6):c.66G>A (p.Val22=) http://identifiers.org/clinvar/339749 ^@ NM_000219.5(KCNE1):c.*1322A>G http://identifiers.org/clinvar/330562 ^@ NM_006949.3(STXBP2):c.1671C>T (p.Thr557=) http://identifiers.org/clinvar/339999 ^@ NM_020639.2(RIPK4):c.*560A>G http://identifiers.org/clinvar/341139 ^@ NM_000268.3(NF2):c.*2235G>A http://identifiers.org/clinvar/339399 ^@ NM_025219.2(DNAJC5):c.*1648C>T http://identifiers.org/clinvar/339699 ^@ NM_000628.4(IL10RB):c.*135G>A http://identifiers.org/clinvar/341689 ^@ NM_022098.3(XPNPEP3):c.*1058_*1061delTAAA http://identifiers.org/clinvar/341739 ^@ NM_022098.3(XPNPEP3):c.*3955A>G http://identifiers.org/clinvar/339849 ^@ NM_001754.4(RUNX1):c.*1138C>A http://identifiers.org/clinvar/341839 ^@ NM_001429.3(EP300):c.*352C>T http://identifiers.org/clinvar/339899 ^@ NM_144492.2(CLDN14):c.-377C>T http://identifiers.org/clinvar/341889 ^@ NM_000262.2(NAGA):c.*1696C>T http://identifiers.org/clinvar/388830 ^@ NM_020987.4(ANK3):c.12520A>G (p.Ile4174Val) http://identifiers.org/clinvar/384251 ^@ NM_000368.4(TSC1):c.181C>T (p.Leu61=) http://identifiers.org/clinvar/382197 ^@ NM_014141.5(CNTNAP2):c.3942C>T (p.Asn1314=) http://identifiers.org/clinvar/382599 ^@ NM_004092.3(ECHS1):c.286+6C>T http://identifiers.org/clinvar/385341 ^@ NM_001080512.2(BICC1):c.2881C>T (p.Arg961Cys) http://identifiers.org/clinvar/384151 ^@ NM_213599.2(ANO5):c.878+17G>A http://identifiers.org/clinvar/389719 ^@ NM_000136.2(FANCC):c.*10A>C http://identifiers.org/clinvar/380204 ^@ NM_000136.2(FANCC):c.1524C>T (p.Val508=) http://identifiers.org/clinvar/385041 ^@ NM_000136.2(FANCC):c.250+12A>G http://identifiers.org/clinvar/382799 ^@ NM_033087.3(ALG2):c.167C>T (p.Pro56Leu) http://identifiers.org/clinvar/379803 ^@ NM_004329.2(BMPR1A):c.*17G>A http://identifiers.org/clinvar/384791 ^@ NM_000314.6(PTEN):c.492+16A>G http://identifiers.org/clinvar/379703 ^@ NM_000314.6(PTEN):c.635-6A>G http://identifiers.org/clinvar/384941 ^@ NM_000445.4(PLEC):c.1897-7C>G http://identifiers.org/clinvar/385141 ^@ NM_000445.4(PLEC):c.882C>T (p.Asp294=) http://identifiers.org/clinvar/377504 ^@ NM_000051.3(ATM):c.901+12A>G http://identifiers.org/clinvar/380304 ^@ NM_032578.3(MYPN):c.2925+18C>T http://identifiers.org/clinvar/389669 ^@ NM_007078.2(LDB3):c.1164C>T (p.Pro388=) http://identifiers.org/clinvar/379904 ^@ NM_000545.6(HNF1A):c.686G>A (p.Arg229Gln) http://identifiers.org/clinvar/379753 ^@ NM_006904.6(PRKDC):c.11805C>T (p.Gly3935=) http://identifiers.org/clinvar/378953 ^@ NM_000051.3(ATM):c.7179T>C (p.Phe2393=) http://identifiers.org/clinvar/382498 ^@ NM_002860.3(ALDH18A1):c.2345A>C (p.Tyr782Ser) http://identifiers.org/clinvar/377654 ^@ NM_017780.3(CHD7):c.6775G>A (p.Ala2259Thr) http://identifiers.org/clinvar/388280 ^@ NM_005609.3(PYGM):c.723C>T (p.Thr241=) http://identifiers.org/clinvar/377754 ^@ NM_001876.3(CPT1A):c.1529C>T (p.Pro510Leu) http://identifiers.org/clinvar/386091 ^@ NM_005609.3(PYGM):c.1527G>T (p.Gly509=) http://identifiers.org/clinvar/382749 ^@ NM_014254.2(TMEM5):c.81C>T (p.Val27=) http://identifiers.org/clinvar/385891 ^@ NM_020822.2(KCNT1):c.1638G>A (p.Pro546=) http://identifiers.org/clinvar/382699 ^@ NM_006231.3(POLE):c.5481G>A (p.Ser1827=) http://identifiers.org/clinvar/380655 ^@ NM_203447.3(DOCK8):c.332+9T>G http://identifiers.org/clinvar/388580 ^@ NM_001843.3(CNTN1):c.985+20T>A http://identifiers.org/clinvar/388380 ^@ NM_004863.3(SPTLC2):c.-38C>T http://identifiers.org/clinvar/381496 ^@ NM_000059.3(BRCA2):c.68-20G>T http://identifiers.org/clinvar/379503 ^@ NM_006393.2(NEBL):c.986G>T (p.Gly329Val) http://identifiers.org/clinvar/381847 ^@ NM_001080449.2(DNA2):c.888G>A (p.Pro296=) http://identifiers.org/clinvar/385641 ^@ NM_000059.3(BRCA2):c.8505A>G (p.Ser2835=) http://identifiers.org/clinvar/387780 ^@ NM_000138.4(FBN1):c.4382G>T (p.Cys1461Phe) http://identifiers.org/clinvar/383851 ^@ NM_000059.3(BRCA2):c.9130A>G (p.Ile3044Val) http://identifiers.org/clinvar/388130 ^@ NM_000051.3(ATM):c.8733C>A (p.Thr2911=) http://identifiers.org/clinvar/387980 ^@ NM_005050.3(ABCD4):c.425+7G>A http://identifiers.org/clinvar/382147 ^@ NM_000246.3(CIITA):c.3150-5G>A http://identifiers.org/clinvar/379453 ^@ NM_032531.3(KIRREL3):c.1166G>A (p.Arg389His) http://identifiers.org/clinvar/381796 ^@ NM_001171.5(ABCC6):c.3557C>A (p.Ala1186Asp) http://identifiers.org/clinvar/379003 ^@ NM_000257.3(MYH7):c.3324C>T (p.Leu1108=) http://identifiers.org/clinvar/381997 ^@ NM_000257.3(MYH7):c.2184G>C (p.Ala728=) http://identifiers.org/clinvar/379353 ^@ NM_002496.3(NDUFS8):c.170G>A (p.Arg57His) http://identifiers.org/clinvar/379303 ^@ NM_004360.4(CDH1):c.1008+15G>A http://identifiers.org/clinvar/382047 ^@ NM_022041.3(GAN):c.1612+13C>G http://identifiers.org/clinvar/379954 ^@ NM_001739.1(CA5A):c.453C>T (p.Pro151=) http://identifiers.org/clinvar/388630 ^@ NM_174917.4(ACSF3):c.978-7C>T http://identifiers.org/clinvar/384201 ^@ NM_001303.3(COX10):c.15G>T (p.Pro5=) http://identifiers.org/clinvar/47456 ^@ NM_133378.4(TTN):c.78979G>A (p.Val26327Met) http://identifiers.org/clinvar/47506 ^@ NM_133378.4(TTN):c.83635T>C (p.Leu27879=) http://identifiers.org/clinvar/47556 ^@ NM_133378.4(TTN):c.87608G>A (p.Arg29203Lys) http://identifiers.org/clinvar/47606 ^@ NM_133378.4(TTN):c.91+14T>C http://identifiers.org/clinvar/47656 ^@ NM_133378.4(TTN):c.95173A>G (p.Lys31725Glu) http://identifiers.org/clinvar/47706 ^@ NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) http://identifiers.org/clinvar/47756 ^@ NM_001256850.1(TTN):c.10360+4200C>T http://identifiers.org/clinvar/47806 ^@ NM_133432.3(TTN):c.10620T>C (p.Ser3540=) http://identifiers.org/clinvar/47856 ^@ NM_138691.2(TMC1):c.1165C>T (p.Arg389Ter) http://identifiers.org/clinvar/47906 ^@ NM_144573.3(NEXN):c.363G>A (p.Thr121=) http://identifiers.org/clinvar/47956 ^@ NM_147196.2(TMIE):c.102G>A (p.Thr34=) http://identifiers.org/clinvar/48008 ^@ NM_153676.3(USH1C):c.2547-11T>C http://identifiers.org/clinvar/48058 ^@ NM_005572.3(LMNA):c.261T>C (p.Asp87=) http://identifiers.org/clinvar/48108 ^@ NM_172058.3(EYA1):c.58C>G (p.Pro20Ala) http://identifiers.org/clinvar/48158 ^@ NM_178335.2(CCDC50):c.773T>A (p.Ile258Asn) http://identifiers.org/clinvar/48208 ^@ NM_194248.2(OTOF):c.2877G>A (p.Ala959=) http://identifiers.org/clinvar/48258 ^@ NM_194248.2(OTOF):c.5332G>T (p.Val1778Phe) http://identifiers.org/clinvar/106 ^@ NR_036055.1(MIR2861):n.33C>G http://identifiers.org/clinvar/224 ^@ NM_000027.3(AGA):c.102_108delGCCCTTT (p.Trp34Terfs) http://identifiers.org/clinvar/279 ^@ NM_001159772.1(CANT1):c.898C>T (p.Arg300Cys) http://identifiers.org/clinvar/440 ^@ NM_005581.4(BCAM):c.691C>T (p.Arg231Ter) http://identifiers.org/clinvar/490 ^@ NM_000320.2(QDPR):c.68G>A (p.Gly23Asp) http://identifiers.org/clinvar/900 ^@ NM_000181.3(GUSB):c.1521G>A (p.Trp507Ter) http://identifiers.org/clinvar/956 ^@ NM_000275.2(OCA2):c.2228C>T (p.Pro743Leu) http://identifiers.org/clinvar/1149 ^@ NM_001178007.1(BBS12):c.1483_1484delGA (p.Glu495Argfs) http://identifiers.org/clinvar/1551 ^@ NM_000237.2(LPL):c.1174C>G (p.Leu392Val) http://identifiers.org/clinvar/1597 ^@ NM_144687.3(NLRP12):c.2072+2dupT http://identifiers.org/clinvar/1646 ^@ NM_018105.2(THAP1):c.241T>C (p.Phe81Leu) http://identifiers.org/clinvar/1691 ^@ NM_002108.3(HAL):c.776C>T (p.Pro259Leu) http://identifiers.org/clinvar/1737 ^@ NM_001017420.2(ESCO2):c.751dupG (p.Glu251Glyfs) http://identifiers.org/clinvar/1788 ^@ NM_000102.3(CYP17A1):c.1073G>A (p.Arg358Gln) http://identifiers.org/clinvar/1832 ^@ IQCB1, 4-BP DEL, 445CTCT http://identifiers.org/clinvar/1878 ^@ NM_000255.3(MUT):c.313T>C (p.Trp105Arg) http://identifiers.org/clinvar/1922 ^@ NM_022132.4(MCCC2):c.929C>G (p.Pro310Arg) http://identifiers.org/clinvar/1968 ^@ NM_000022.3(ADA):c.646G>A (p.Gly216Arg) http://identifiers.org/clinvar/2011 ^@ NM_001134831.1(AHI1):c.1303C>T (p.Arg435Ter) http://identifiers.org/clinvar/2057 ^@ NM_152443.2(RDH12):c.152T>A (p.Ile51Asn) http://identifiers.org/clinvar/2102 ^@ PC, 1-BP DUP, 2876T http://identifiers.org/clinvar/2148 ^@ NIPBL, IVS45AS, G-C, -1 http://identifiers.org/clinvar/2195 ^@ NM_024915.3(GRHL2):c.1609dupC (p.Arg537Profs) http://identifiers.org/clinvar/2285 ^@ NM_015046.5(SETX):c.2602C>T (p.Gln868Ter) http://identifiers.org/clinvar/2330 ^@ NM_033071.3(SYNE1):c.22156C>T (p.Gln7386Ter) http://identifiers.org/clinvar/2377 ^@ NM_000709.3(BCKDHA):c.868G>A (p.Gly290Arg) http://identifiers.org/clinvar/2421 ^@ NM_001875.4(CPS1):c.1010A>G (p.His337Arg) http://identifiers.org/clinvar/2467 ^@ ADSL, -49T-C http://identifiers.org/clinvar/2512 ^@ SOX9, 1-BP DEL, 296G http://identifiers.org/clinvar/2560 ^@ ALG8, IVS1AS, A-G, -2 http://identifiers.org/clinvar/2606 ^@ NM_001128085.1(ASPA):c.454T>C (p.Cys152Arg) http://identifiers.org/clinvar/2652 ^@ NM_152281.2(GORAB):c.859C>T (p.Arg287Ter) http://identifiers.org/clinvar/2699 ^@ NM_033087.3(ALG2):c.1040delG (p.Gly347Valfs) http://identifiers.org/clinvar/2744 ^@ NM_004183.3(BEST1):c.256G>A (p.Val86Met) http://identifiers.org/clinvar/2834 ^@ ACAT1, IVS8, G-T, +1 http://identifiers.org/clinvar/2880 ^@ NM_174936.3(PCSK9):c.290_292delGCC (p.Arg97del) http://identifiers.org/clinvar/2925 ^@ NM_001033503.2(SAR1B):c.537T>A (p.Ser179Arg) http://identifiers.org/clinvar/3303 ^@ LIPH, 2-BP DEL, 659TA http://identifiers.org/clinvar/3349 ^@ NM_000348.3(SRD5A2):c.591G>T (p.Glu197Asp) http://identifiers.org/clinvar/10138 ^@ F8, EX5-6 DEL http://identifiers.org/clinvar/10183 ^@ F8, IVS6DS, A-G, +3 http://identifiers.org/clinvar/10228 ^@ NM_000132.3(F8):c.1726G>T (p.Glu576Ter) http://identifiers.org/clinvar/10273 ^@ NM_000132.3(F8):c.5336G>A (p.Gly1779Glu) http://identifiers.org/clinvar/10318 ^@ NM_000132.3(F8):c.6532C>T (p.Arg2178Cys) http://identifiers.org/clinvar/10364 ^@ NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) http://identifiers.org/clinvar/100059 ^@ NM_000402.4(G6PD):c.1478G>A (p.Arg493His) http://identifiers.org/clinvar/10414 ^@ NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) http://identifiers.org/clinvar/10463 ^@ NM_000495.4(COL4A5):c.974G>A (p.Gly325Glu) http://identifiers.org/clinvar/10508 ^@ NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) http://identifiers.org/clinvar/10554 ^@ NM_000351.5(STS):c.1022C>T (p.Ser341Leu) http://identifiers.org/clinvar/10644 ^@ F9, +8T-C http://identifiers.org/clinvar/10690 ^@ NM_000266.3(NDP):c.181C>T (p.Leu61Phe) http://identifiers.org/clinvar/10735 ^@ NM_000169.2(GLA):c.797A>T (p.Asp266Val) http://identifiers.org/clinvar/10780 ^@ NM_003916.4(AP1S2):c.288+5G>A http://identifiers.org/clinvar/10825 ^@ NM_004463.2(FGD1):c.1829G>A (p.Arg610Gln) http://identifiers.org/clinvar/10870 ^@ FANCB, IVS7DS, G-A, +5 http://identifiers.org/clinvar/10916 ^@ BCOR, 2-BP DEL, 2488AG http://identifiers.org/clinvar/10961 ^@ NR0B1, 1-BP DEL, 1169C http://identifiers.org/clinvar/11006 ^@ NM_000531.5(OTC):c.236G>A (p.Gly79Glu) http://identifiers.org/clinvar/11051 ^@ NLGN4, 2-BP DEL, 1253AG http://identifiers.org/clinvar/11097 ^@ PLP1, IVS3, 19-BP DEL, +28 http://identifiers.org/clinvar/11141 ^@ NM_182680.1(AMELX):c.571G>T (p.Glu191Ter) http://identifiers.org/clinvar/11188 ^@ NM_139058.2(ARX):c.1058C>T (p.Pro353Leu) http://identifiers.org/clinvar/11232 ^@ DMD, 1-BP DEL, 724C http://identifiers.org/clinvar/11278 ^@ DMD, 8-BP DEL, 1-BP INS, NT10692 http://identifiers.org/clinvar/11322 ^@ NM_004085.3(TIMM8A):c.73delG (p.Val25Terfs) http://identifiers.org/clinvar/11369 ^@ BTK, 1-BP DEL, IVS11DS, +1G http://identifiers.org/clinvar/11426 ^@ NM_001129765.1(NSDHL):c.314C>T (p.Ala105Val) http://identifiers.org/clinvar/11477 ^@ NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter) http://identifiers.org/clinvar/11528 ^@ NM_000047.2(ARSE):c.1732C>T (p.Pro578Ser) http://identifiers.org/clinvar/11578 ^@ OPHN1, 8-BP DUP http://identifiers.org/clinvar/11628 ^@ NM_001493.2(GDI1):c.1268G>C (p.Arg423Pro) http://identifiers.org/clinvar/11679 ^@ NM_000307.4(POU3F4):c.950T>G (p.Leu317Trp) http://identifiers.org/clinvar/11729 ^@ NM_000489.4(ATRX):c.7162G>T (p.Glu2388Ter) http://identifiers.org/clinvar/11781 ^@ ATP7A, IVSAS, 2642A-G, -2 http://identifiers.org/clinvar/11831 ^@ NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) http://identifiers.org/clinvar/11881 ^@ NM_002769.4(PRSS1):c.161A>G (p.Asn54Ser) http://identifiers.org/clinvar/11931 ^@ NM_000431.3(MVK):c.59A>C (p.His20Pro) http://identifiers.org/clinvar/11981 ^@ NM_000481.3(AMT):c.878-1G>A http://identifiers.org/clinvar/12289 ^@ NM_000463.2(UGT1A1):c.864+2842G>T http://identifiers.org/clinvar/12341 ^@ NM_001065.3(TNFRSF1A):c.362G>C (p.Arg121Pro) http://identifiers.org/clinvar/12392 ^@ NM_000548.4(TSC2):c.4642delC (p.Leu1548Cysfs) http://identifiers.org/clinvar/12444 ^@ NM_003280.2(TNNC1):c.251G>A (p.Cys84Tyr) http://identifiers.org/clinvar/12494 ^@ TGM1, ARG142PR0 http://identifiers.org/clinvar/13242 ^@ NM_002743.3(PRKCSH):c.1269C>G (p.Tyr423Ter) http://identifiers.org/clinvar/13293 ^@ NM_000141.4(FGFR2):c.870G>T (p.Trp290Cys) http://identifiers.org/clinvar/13344 ^@ NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) http://identifiers.org/clinvar/13397 ^@ NM_000311.4(PRNP):c.385A>G (p.Met129Val) http://identifiers.org/clinvar/13449 ^@ NM_000371.3(TTR):c.400T>C (p.Tyr134His) http://identifiers.org/clinvar/13500 ^@ NM_002693.2(POLG):c.2794C>T (p.His932Tyr) http://identifiers.org/clinvar/13550 ^@ NM_006206.4(PDGFRA):c.2021C>T (p.Thr674Ile) http://identifiers.org/clinvar/37042 ^@ NM_015909.3(NBAS):c.5741G>A (p.Arg1914His) http://identifiers.org/clinvar/37110 ^@ NM_152296.4(ATP1A3):c.2839G>A (p.Gly947Arg) http://identifiers.org/clinvar/37245 ^@ NM_006205.2(PDE6H):c.35C>G (p.Ser12Ter) http://identifiers.org/clinvar/37320 ^@ NM_005050.3(ABCD4):c.1746_1747insCT (p.Glu583Leufs) http://identifiers.org/clinvar/37404 ^@ NM_007294.3(BRCA1):c.135-1G>T http://identifiers.org/clinvar/37456 ^@ NM_007294.3(BRCA1):c.2210_2211delCA (p.Thr737Serfs) http://identifiers.org/clinvar/37511 ^@ NM_007294.3(BRCA1):c.3164_3165ins4 http://identifiers.org/clinvar/37567 ^@ NM_007294.3(BRCA1):c.4097-1G>A http://identifiers.org/clinvar/37619 ^@ NM_007294.3(BRCA1):c.4986+4A>C http://identifiers.org/clinvar/37674 ^@ NM_007294.3(BRCA1):c.547+2T>A http://identifiers.org/clinvar/37728 ^@ NM_000059.3(BRCA2):c.1189_1190ins4 http://identifiers.org/clinvar/37779 ^@ NM_000059.3(BRCA2):c.2281T>C (p.Tyr761His) http://identifiers.org/clinvar/37833 ^@ NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr) http://identifiers.org/clinvar/37885 ^@ NM_000059.3(BRCA2):c.4163_4164delCTinsA (p.Thr1388Asnfs) http://identifiers.org/clinvar/37938 ^@ NM_000059.3(BRCA2):c.5000C>G (p.Ser1667Ter) http://identifiers.org/clinvar/37991 ^@ NM_000059.3(BRCA2):c.5723T>C (p.Leu1908Pro) http://identifiers.org/clinvar/38043 ^@ NM_000059.3(BRCA2):c.6405_6409delCTTAA (p.Asn2135Lysfs) http://identifiers.org/clinvar/38096 ^@ NM_000059.3(BRCA2):c.7435+6G>A http://identifiers.org/clinvar/38146 ^@ NM_000059.3(BRCA2):c.8253dupT (p.Ile2752Tyrfs) http://identifiers.org/clinvar/38196 ^@ NM_000059.3(BRCA2):c.8946dupA (p.Asp2983Argfs) http://identifiers.org/clinvar/38246 ^@ NM_000059.3(BRCA2):c.9523G>T (p.Glu3175Ter) http://identifiers.org/clinvar/38567 ^@ NM_000060.4(BTD):c.236G>A (p.Arg79His) http://identifiers.org/clinvar/38308 ^@ NM_000168.5(GLI3):c.2146C>T (p.Gln716Ter) http://identifiers.org/clinvar/38363 ^@ NM_002769.4(PRSS1):c.47C>T (p.Ala16Val) http://identifiers.org/clinvar/38420 ^@ NM_024312.4(GNPTAB):c.2659dupA (p.Ser887Lysfs) http://identifiers.org/clinvar/38748 ^@ NM_000495.4(COL4A5):c.438+2T>C http://identifiers.org/clinvar/38805 ^@ NC_000015.10:g.32672737_32712558dup39822 http://identifiers.org/clinvar/38922 ^@ NM_001099274.1(TINF2):c.849dupC (p.Thr284Hisfs) http://identifiers.org/clinvar/38973 ^@ NM_004614.4(TK2):c.129_132delAGAA (p.Lys43Asnfs) http://identifiers.org/clinvar/39024 ^@ NM_024312.4(GNPTAB):c.1191_1194dupGCTG (p.Ser399Alafs) http://identifiers.org/clinvar/39074 ^@ NM_024312.4(GNPTAB):c.3443_3446delTTTG (p.Val1148Alafs) http://identifiers.org/clinvar/39648 ^@ NM_002524.4(NRAS):c.35G>A (p.Gly12Asp) http://identifiers.org/clinvar/41056 ^@ NM_003611.2(OFD1):c.1099C>T (p.Arg367Ter) http://identifiers.org/clinvar/41112 ^@ NM_003611.2(OFD1):c.337C>T (p.Gln113Ter) http://identifiers.org/clinvar/41165 ^@ NM_003977.3(AIP):c.166C>A (p.Arg56Ser) http://identifiers.org/clinvar/51176 ^@ NM_000059.3(BRCA2):c.1705delC (p.Gln569Argfs) http://identifiers.org/clinvar/51228 ^@ NM_000059.3(BRCA2):c.191C>T (p.Thr64Ile) http://identifiers.org/clinvar/51279 ^@ NM_000059.3(BRCA2):c.2417A>G (p.Asp806Gly) http://identifiers.org/clinvar/51585 ^@ NM_000059.3(BRCA2):c.4039G>C (p.Val1347Leu) http://identifiers.org/clinvar/51637 ^@ NM_000059.3(BRCA2):c.4377C>G (p.Asn1459Lys) http://identifiers.org/clinvar/51688 ^@ NM_000059.3(BRCA2):c.464_468delGAGAT (p.Arg155Lysfs) http://identifiers.org/clinvar/51739 ^@ NM_000059.3(BRCA2):c.4917delA (p.His1640Metfs) http://identifiers.org/clinvar/51791 ^@ NM_000059.3(BRCA2):c.5164_5165delAG (p.Ser1722Tyrfs) http://identifiers.org/clinvar/51842 ^@ NM_000059.3(BRCA2):c.5344C>T (p.Gln1782Ter) http://identifiers.org/clinvar/51895 ^@ NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) http://identifiers.org/clinvar/51947 ^@ NM_000059.3(BRCA2):c.5835_5843dupATCACCTTG (p.Cys1948_Glu2282delinsTer) http://identifiers.org/clinvar/51999 ^@ NM_000059.3(BRCA2):c.6068_6072delACCAG (p.Asp2023Alafs) http://identifiers.org/clinvar/52050 ^@ NM_000059.3(BRCA2):c.6302delA (p.Asn2101Metfs) http://identifiers.org/clinvar/52104 ^@ NM_000059.3(BRCA2):c.6447_6448dupTA (p.Lys2150Ilefs) http://identifiers.org/clinvar/52155 ^@ NM_000059.3(BRCA2):c.6682dupG (p.Val2228Glyfs) http://identifiers.org/clinvar/52205 ^@ NM_000059.3(BRCA2):c.6841+3A>T http://identifiers.org/clinvar/52256 ^@ NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) http://identifiers.org/clinvar/52307 ^@ NM_000059.3(BRCA2):c.730G>A (p.Asp244Asn) http://identifiers.org/clinvar/52357 ^@ NM_000059.3(BRCA2):c.756_759delCAGT (p.Asp252Glufs) http://identifiers.org/clinvar/52408 ^@ NM_000059.3(BRCA2):c.7783G>T (p.Ala2595Ser) http://identifiers.org/clinvar/52458 ^@ NM_000059.3(BRCA2):c.7978T>G (p.Tyr2660Asp) http://identifiers.org/clinvar/52508 ^@ NM_000059.3(BRCA2):c.8130delT (p.Ser2710Argfs) http://identifiers.org/clinvar/52559 ^@ NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) http://identifiers.org/clinvar/52609 ^@ NM_000059.3(BRCA2):c.8518A>G (p.Ile2840Val) http://identifiers.org/clinvar/54990 ^@ NM_007294.3(BRCA1):c.3758C>A (p.Ser1253Tyr) http://identifiers.org/clinvar/55041 ^@ NM_007294.3(BRCA1):c.389A>T (p.Tyr130Phe) http://identifiers.org/clinvar/55092 ^@ NM_007294.3(BRCA1):c.4062_4068delTAATCAA (p.Asn1354Lysfs) http://identifiers.org/clinvar/55143 ^@ NM_007294.3(BRCA1):c.4211T>C (p.Leu1404Pro) http://identifiers.org/clinvar/55194 ^@ NM_007294.3(BRCA1):c.4405C>T (p.Pro1469Ser) http://identifiers.org/clinvar/55244 ^@ NM_007294.3(BRCA1):c.4631C>T (p.Pro1544Leu) http://identifiers.org/clinvar/55295 ^@ NM_007294.3(BRCA1):c.4813T>G (p.Leu1605Val) http://identifiers.org/clinvar/55345 ^@ NM_007294.3(BRCA1):c.4987-2A>G http://identifiers.org/clinvar/55395 ^@ NM_007294.3(BRCA1):c.5095C>A (p.Arg1699=) http://identifiers.org/clinvar/55445 ^@ NM_007294.3(BRCA1):c.5179_5192delAAAATGCTGAATGA (p.Lys1727Alafs) http://identifiers.org/clinvar/55497 ^@ NM_007294.3(BRCA1):c.5277+4A>T http://identifiers.org/clinvar/55548 ^@ NM_007294.3(BRCA1):c.5359T>A (p.Cys1787Ser) http://identifiers.org/clinvar/55598 ^@ NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) http://identifiers.org/clinvar/55648 ^@ NM_007294.3(BRCA1):c.61A>G (p.Ile21Val) http://identifiers.org/clinvar/55701 ^@ NM_007294.3(BRCA1):c.788G>T (p.Gly263Val) http://identifiers.org/clinvar/55752 ^@ NM_007294.3(BRCA1):c.922_923delAG (p.Ser308Glnfs) http://identifiers.org/clinvar/55824 ^@ NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) http://identifiers.org/clinvar/55886 ^@ NM_001258221.1(KCTD1):c.98A>C (p.His33Pro) http://identifiers.org/clinvar/55960 ^@ NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) http://identifiers.org/clinvar/56012 ^@ NM_000112.3(SLC26A2):c.1157C>T (p.Ala386Val) http://identifiers.org/clinvar/56063 ^@ NM_000170.2(GLDC):c.2196T>A (p.Asn732Lys) http://identifiers.org/clinvar/56115 ^@ NM_000274.3(OAT):c.1307T>A (p.Ile436Asn) http://identifiers.org/clinvar/56169 ^@ NM_002273.3(KRT8):c.1340C>T (p.Ala447Val) http://identifiers.org/clinvar/56219 ^@ NM_000310.3(PPT1):c.888G>A (p.Trp296Ter) http://identifiers.org/clinvar/56270 ^@ NM_001042432.1(CLN3):c.461-13G>C http://identifiers.org/clinvar/56322 ^@ NM_001081.3(CUBN):c.1838delG (p.Gly613Glufs) http://identifiers.org/clinvar/57299 ^@ GRCh38/hg38 5q14.3(chr5:90228146-91116592)x1 http://identifiers.org/clinvar/57352 ^@ GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1 http://identifiers.org/clinvar/57403 ^@ GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 http://identifiers.org/clinvar/102748 ^@ NM_000277.1(PAH):c.598dupA (p.Thr200Asnfs) http://identifiers.org/clinvar/102799 ^@ NM_000277.1(PAH):c.716G>C (p.Gly239Ala) http://identifiers.org/clinvar/102849 ^@ NM_000277.1(PAH):c.811C>T (p.His271Tyr) http://identifiers.org/clinvar/102901 ^@ NM_000277.1(PAH):c.935G>A (p.Gly312Asp) http://identifiers.org/clinvar/102959 ^@ NM_178844.3(NLRC3):c.2938G>A (p.Asp980Asn) http://identifiers.org/clinvar/103009 ^@ NM_000246.3(CIITA):c.482-162C>T http://identifiers.org/clinvar/103059 ^@ NM_001174081.2(NLRP2):c.2496C>T (p.Tyr832=) http://identifiers.org/clinvar/103109 ^@ NM_006092.2(NOD1):c.285T>C (p.Asp95=) http://identifiers.org/clinvar/103159 ^@ NM_032206.4(NLRC5):c.2076-29C>T http://identifiers.org/clinvar/103209 ^@ NM_032206.4(NLRC5):c.5405+140G>A http://identifiers.org/clinvar/103259 ^@ NM_138329.2(NLRP6):c.966G>C (p.Leu322=) http://identifiers.org/clinvar/103309 ^@ NM_176810.2(NLRP13):c.2282+34C>A http://identifiers.org/clinvar/103359 ^@ NM_178844.3(NLRC3):c.1870C>T (p.Leu624Phe) http://identifiers.org/clinvar/111233 ^@ NM_005534.3(IFNGR2):c.207-123G>T http://identifiers.org/clinvar/120093 ^@ NM_000576.2(IL1B):c.99+383G>C http://identifiers.org/clinvar/120245 ^@ NM_017637.5(BNC2):c.936C>T (p.Phe312=) http://identifiers.org/clinvar/120295 ^@ NM_000277.1(PAH):c.913-8A>G http://identifiers.org/clinvar/125520 ^@ NM_007294.3(BRCA1):c.80+5G>A http://identifiers.org/clinvar/125607 ^@ NM_007294.3(BRCA1):c.3114_3117delAGCCinsGA (p.Ala1039Lysfs) http://identifiers.org/clinvar/125675 ^@ NM_007294.3(BRCA1):c.4097-20C>T http://identifiers.org/clinvar/125739 ^@ NM_007294.3(BRCA1):c.4986+68A>G http://identifiers.org/clinvar/125813 ^@ NM_007294.3(BRCA1):c.5277+60_5277+61insGTATTCCACTCC http://identifiers.org/clinvar/125875 ^@ NM_007294.3(BRCA1):c.*106C>G http://identifiers.org/clinvar/125942 ^@ NM_000059.3(BRCA2):c.1362dupA (p.Ser455Ilefs) http://identifiers.org/clinvar/126003 ^@ NM_000059.3(BRCA2):c.3067_3071delAACAT (p.Asn1023Terfs) http://identifiers.org/clinvar/126072 ^@ NM_000059.3(BRCA2):c.5682C>A (p.Tyr1894Ter) http://identifiers.org/clinvar/126140 ^@ NM_000059.3(BRCA2):c.7595_7596insTT (p.Ala2534Leufs) http://identifiers.org/clinvar/126762 ^@ NM_024675.3(PALB2):c.632A>G (p.Glu211Gly) http://identifiers.org/clinvar/126866 ^@ NM_001622.2(AHSG):c.574-149A>G http://identifiers.org/clinvar/126922 ^@ NM_001127464.2(ZNF469):c.2699C>T (p.Pro900Leu) http://identifiers.org/clinvar/126972 ^@ NM_017849.3(TMEM127):c.447G>A (p.Trp149Ter) http://identifiers.org/clinvar/127022 ^@ NM_005591.3(MRE11):c.*685C>T http://identifiers.org/clinvar/127074 ^@ NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) http://identifiers.org/clinvar/127143 ^@ NM_005861.3(STUB1):c.493C>T (p.Leu165Phe) http://identifiers.org/clinvar/127244 ^@ NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter) http://identifiers.org/clinvar/127296 ^@ NM_000038.5(APC):c.4493A>G (p.Asp1498Gly) http://identifiers.org/clinvar/127346 ^@ NM_000051.3(ATM):c.2275A>G (p.Ser759Gly) http://identifiers.org/clinvar/127396 ^@ NM_000051.3(ATM):c.498A>C (p.Glu166Asp) http://identifiers.org/clinvar/127446 ^@ NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) http://identifiers.org/clinvar/127497 ^@ NM_000057.3(BLM):c.3210+2delT http://identifiers.org/clinvar/127547 ^@ NM_000136.2(FANCC):c.843+1G>A http://identifiers.org/clinvar/127597 ^@ NM_000179.2(MSH6):c.3983A>G (p.Gln1328Arg) http://identifiers.org/clinvar/127648 ^@ NM_000251.2(MSH2):c.610G>A (p.Gly204Arg) http://identifiers.org/clinvar/127707 ^@ NM_000455.4(STK11):c.894C>A (p.Phe298Leu) http://identifiers.org/clinvar/127757 ^@ NM_000535.6(PMS2):c.1240G>T (p.Asp414Tyr) http://identifiers.org/clinvar/127808 ^@ NM_000546.5(TP53):c.329G>A (p.Arg110His) http://identifiers.org/clinvar/179442 ^@ NM_000364.3(TNNT2):c.228G>C (p.Lys76Asn) http://identifiers.org/clinvar/180092 ^@ NM_206933.2(USH2A):c.5877delT (p.Ser1961Glnfs) http://identifiers.org/clinvar/165107 ^@ NM_001035.2(RYR2):c.7513-8T>G http://identifiers.org/clinvar/179692 ^@ NM_001256850.1(TTN):c.86916dupA (p.Val28973Serfs) http://identifiers.org/clinvar/180042 ^@ NM_001256850.1(TTN):c.83384-15C>T http://identifiers.org/clinvar/179642 ^@ NM_133378.4(TTN):c.75899delG (p.Gly25300Glufs) http://identifiers.org/clinvar/177983 ^@ NM_001267550.2(TTN):c.77421dupC (p.Ser25808Glnfs) http://identifiers.org/clinvar/165990 ^@ NM_133378.4(TTN):c.45376G>C (p.Ala15126Pro) http://identifiers.org/clinvar/166484 ^@ NM_206933.2(USH2A):c.6398G>A (p.Trp2133Ter) http://identifiers.org/clinvar/179542 ^@ NM_206933.2(USH2A):c.8177G>A (p.Gly2726Glu) http://identifiers.org/clinvar/165922 ^@ NM_133378.4(TTN):c.53585G>A (p.Cys17862Tyr) http://identifiers.org/clinvar/179292 ^@ NM_133378.4(TTN):c.90454G>A (p.Gly30152Ser) http://identifiers.org/clinvar/179892 ^@ NM_133378.4(TTN):c.86820T>C (p.Asp28940=) http://identifiers.org/clinvar/178184 ^@ NM_133378.4(TTN):c.75106G>A (p.Gly25036Ser) http://identifiers.org/clinvar/166119 ^@ NM_133378.4(TTN):c.27339C>T (p.His9113=) http://identifiers.org/clinvar/178234 ^@ NM_133378.4(TTN):c.23086G>A (p.Gly7696Ser) http://identifiers.org/clinvar/166246 ^@ NM_133378.4(TTN):c.10360+7337G>A http://identifiers.org/clinvar/166356 ^@ NM_001267550.2(TTN):c.1002C>T (p.Thr334=) http://identifiers.org/clinvar/164874 ^@ NM_194248.2(OTOF):c.1205+3G>A http://identifiers.org/clinvar/179742 ^@ NM_194248.2(OTOF):c.251T>C (p.Val84Ala) http://identifiers.org/clinvar/179592 ^@ NM_005219.4(DIAPH1):c.635G>A (p.Arg212Gln) http://identifiers.org/clinvar/166296 ^@ NM_133378.4(TTN):c.9811T>G (p.Ser3271Ala) http://identifiers.org/clinvar/163153 ^@ NM_001369.2(DNAH5):c.3301G>A (p.Val1101Met) http://identifiers.org/clinvar/166577 ^@ NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) http://identifiers.org/clinvar/163103 ^@ NM_001277115.1(DNAH11):c.3853-12T>A http://identifiers.org/clinvar/178284 ^@ NM_005228.4(EGFR):c.2237_2246delAATTAAGAGAinsC (p.Glu746_Glu749delinsAla) http://identifiers.org/clinvar/163350 ^@ NM_005228.4(EGFR):c.2237_2248delAATTAAGAGAAGinsCCC (p.Glu746_Ala750delinsAlaPro) http://identifiers.org/clinvar/165257 ^@ NM_000441.1(SLC26A4):c.1554G>A (p.Trp518Ter) http://identifiers.org/clinvar/163031 ^@ NM_004403.2(DFNA5):c.1355T>C (p.Phe452Ser) http://identifiers.org/clinvar/178334 ^@ NM_004403.2(DFNA5):c.1118G>A (p.Gly373Asp) http://identifiers.org/clinvar/163625 ^@ NM_032119.3(ADGRV1):c.17092C>G (p.Leu5698Val) http://identifiers.org/clinvar/198429 ^@ NM_000535.6(PMS2):c.706-4dupT http://identifiers.org/clinvar/198479 ^@ NM_002225.3(IVD):c.735G>C (p.Lys245Asn) http://identifiers.org/clinvar/198533 ^@ NM_005902.3(SMAD3):c.885G>A (p.Arg295=) http://identifiers.org/clinvar/198584 ^@ NM_021072.3(HCN1):c.1783+7dupT http://identifiers.org/clinvar/198637 ^@ NM_207346.2(TSEN54):c.622C>T (p.Arg208Trp) http://identifiers.org/clinvar/198687 ^@ NM_000033.3(ABCD1):c.1781-1G>A http://identifiers.org/clinvar/198742 ^@ NM_000548.4(TSC2):c.649-1G>C http://identifiers.org/clinvar/198794 ^@ NM_004376.6(COX15):c.1026C>T (p.Phe342=) http://identifiers.org/clinvar/198848 ^@ NM_007171.3(POMT1):c.718T>C (p.Cys240Arg) http://identifiers.org/clinvar/198901 ^@ NM_022437.2(ABCG8):c.1201A>T (p.Thr401Ser) http://identifiers.org/clinvar/198954 ^@ NM_001080463.1(DYNC2H1):c.12027C>T (p.Ile4009=) http://identifiers.org/clinvar/199006 ^@ NM_000287.3(PEX6):c.1958C>T (p.Ser653Leu) http://identifiers.org/clinvar/199056 ^@ NM_001083961.1(WDR62):c.1233+6dupC http://identifiers.org/clinvar/199110 ^@ NM_005529.6(HSPG2):c.983A>G (p.Asn328Ser) http://identifiers.org/clinvar/199161 ^@ NM_021939.3(FKBP10):c.1550T>A (p.Val517Asp) http://identifiers.org/clinvar/199216 ^@ NM_000540.2(RYR1):c.12860_12869delCCACGGCGGCinsT (p.Ala4287_Ala4290delinsVal) http://identifiers.org/clinvar/199437 ^@ NM_014176.3(UBE2T):c.179+5G>A http://identifiers.org/clinvar/199717 ^@ NM_000090.3(COL3A1):c.1030C>T (p.Pro344Ser) http://identifiers.org/clinvar/201592 ^@ NM_198056.2(SCN5A):c.4405A>T (p.Ile1469Phe) http://identifiers.org/clinvar/200237 ^@ NM_000238.3(KCNH2):c.2398+105delC http://identifiers.org/clinvar/200368 ^@ NM_000238.3(KCNH2):c.1689G>C (p.Trp563Cys) http://identifiers.org/clinvar/200540 ^@ NM_000238.3(KCNH2):c.80G>A (p.Arg27His) http://identifiers.org/clinvar/200166 ^@ NM_000138.4(FBN1):c.6129delG (p.Ser2045Profs) http://identifiers.org/clinvar/199772 ^@ NM_024422.4(DSC2):c.2298G>C (p.Gln766His) http://identifiers.org/clinvar/199827 ^@ NM_001943.4(DSG2):c.3059_3062delAGAG (p.Glu1020Alafs) http://identifiers.org/clinvar/201649 ^@ NM_001103.3(ACTN2):c.2567C>T (p.Pro856Leu) http://identifiers.org/clinvar/201704 ^@ NM_001927.3(DES):c.883T>G (p.Trp295Gly) http://identifiers.org/clinvar/201868 ^@ NM_032578.3(MYPN):c.360T>A (p.Asp120Glu) http://identifiers.org/clinvar/201815 ^@ NM_002230.2(JUP):c.640C>T (p.His214Tyr) http://identifiers.org/clinvar/201760 ^@ NM_004006.2(DMD):c.3326A>T (p.Asn1109Ile) http://identifiers.org/clinvar/232267 ^@ NM_000038.5(APC):c.5192C>G (p.Ala1731Gly) http://identifiers.org/clinvar/233218 ^@ NM_000038.5(APC):c.7478T>C (p.Leu2493Pro) http://identifiers.org/clinvar/233168 ^@ NM_005732.3(RAD50):c.2913C>G (p.Asp971Glu) http://identifiers.org/clinvar/232918 ^@ NM_000535.6(PMS2):c.2547C>G (p.Thr849=) http://identifiers.org/clinvar/233318 ^@ NM_000535.6(PMS2):c.566A>G (p.His189Arg) http://identifiers.org/clinvar/233518 ^@ NM_000535.6(PMS2):c.142G>A (p.Asp48Asn) http://identifiers.org/clinvar/232768 ^@ NM_000314.6(PTEN):c.183T>C (p.His61=) http://identifiers.org/clinvar/230878 ^@ NM_000051.3(ATM):c.644A>G (p.Lys215Arg) http://identifiers.org/clinvar/231178 ^@ NM_000051.3(ATM):c.756_757delTG (p.Cys252Terfs) http://identifiers.org/clinvar/232618 ^@ NM_000051.3(ATM):c.3112G>C (p.Val1038Leu) http://identifiers.org/clinvar/231278 ^@ NM_000051.3(ATM):c.3511C>T (p.Gln1171Ter) http://identifiers.org/clinvar/230328 ^@ NM_000051.3(ATM):c.4179C>A (p.Ile1393=) http://identifiers.org/clinvar/233418 ^@ NM_000051.3(ATM):c.4668T>C (p.Tyr1556=) http://identifiers.org/clinvar/230778 ^@ NM_000051.3(ATM):c.9016G>C (p.Ala3006Pro) http://identifiers.org/clinvar/231128 ^@ NM_005591.3(MRE11):c.2074G>C (p.Asp692His) http://identifiers.org/clinvar/231028 ^@ NM_000059.3(BRCA2):c.436C>T (p.Leu146=) http://identifiers.org/clinvar/230478 ^@ NM_000059.3(BRCA2):c.1134delT (p.Ser378Argfs) http://identifiers.org/clinvar/231228 ^@ NM_000059.3(BRCA2):c.1349C>G (p.Ser450Cys) http://identifiers.org/clinvar/230428 ^@ NM_000059.3(BRCA2):c.4524A>T (p.Gly1508=) http://identifiers.org/clinvar/230278 ^@ NM_000059.3(BRCA2):c.6212G>C (p.Ser2071Thr) http://identifiers.org/clinvar/232868 ^@ NM_000059.3(BRCA2):c.7410C>G (p.Phe2470Leu) http://identifiers.org/clinvar/230378 ^@ NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) http://identifiers.org/clinvar/231378 ^@ NM_000059.3(BRCA2):c.8686C>T (p.Arg2896Cys) http://identifiers.org/clinvar/232467 ^@ NM_000059.3(BRCA2):c.8871A>T (p.Gln2957His) http://identifiers.org/clinvar/230678 ^@ NM_000059.3(BRCA2):c.9321A>C (p.Ile3107=) http://identifiers.org/clinvar/232317 ^@ NM_024675.3(PALB2):c.2873A>C (p.Gln958Pro) http://identifiers.org/clinvar/233268 ^@ NM_024675.3(PALB2):c.712A>G (p.Arg238Gly) http://identifiers.org/clinvar/230928 ^@ NM_024675.3(PALB2):c.693A>T (p.Lys231Asn) http://identifiers.org/clinvar/232567 ^@ NM_024675.3(PALB2):c.48+4C>T http://identifiers.org/clinvar/230828 ^@ NM_004360.4(CDH1):c.409G>C (p.Ala137Pro) http://identifiers.org/clinvar/231528 ^@ NM_004360.4(CDH1):c.1476_1477delAG (p.Arg492Serfs) http://identifiers.org/clinvar/232517 ^@ NM_001042492.2(NF1):c.1070T>G (p.Leu357Arg) http://identifiers.org/clinvar/232968 ^@ NM_001042492.2(NF1):c.1541A>C (p.Gln514Pro) http://identifiers.org/clinvar/232417 ^@ NM_001042492.2(NF1):c.2619T>C (p.Arg873=) http://identifiers.org/clinvar/233018 ^@ NM_001042492.2(NF1):c.6663A>G (p.Pro2221=) http://identifiers.org/clinvar/230228 ^@ NM_001042492.2(NF1):c.6672G>A (p.Lys2224=) http://identifiers.org/clinvar/232818 ^@ NM_002878.3(RAD51D):c.117A>T (p.Val39=) http://identifiers.org/clinvar/231428 ^@ NM_007294.3(BRCA1):c.2790T>C (p.Pro930=) http://identifiers.org/clinvar/230728 ^@ NM_058216.2(RAD51C):c.754C>G (p.Leu252Val) http://identifiers.org/clinvar/230528 ^@ NM_032043.2(BRIP1):c.1974G>T (p.Arg658=) http://identifiers.org/clinvar/231478 ^@ NM_007194.3(CHEK2):c.860A>T (p.Lys287Met) http://identifiers.org/clinvar/230628 ^@ NM_007194.3(CHEK2):c.284G>A (p.Arg95Gln) http://identifiers.org/clinvar/236366 ^@ NC_000015.8:g.20305097_20777695dup472599 http://identifiers.org/clinvar/242381 ^@ NM_000157.3(GBA):c.407C>T (p.Ser136Leu) http://identifiers.org/clinvar/236517 ^@ NM_000350.2(ABCA4):c.6107A>G (p.Tyr2036Cys) http://identifiers.org/clinvar/236417 ^@ NM_006269.1(RP1):c.742C>T (p.Gln248Ter) http://identifiers.org/clinvar/236467 ^@ NM_025114.3(CEP290):c.3181_3182delAT (p.Met1061Alafs) http://identifiers.org/clinvar/238863 ^@ NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro) http://identifiers.org/clinvar/238813 ^@ NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) http://identifiers.org/clinvar/238713 ^@ NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) http://identifiers.org/clinvar/238763 ^@ NM_001267550.2(TTN):c.3864T>G (p.Ala1288=) http://identifiers.org/clinvar/237774 ^@ NM_000393.4(COL5A2):c.2770-5A>G http://identifiers.org/clinvar/241307 ^@ NM_020919.3(ALS2):c.1115C>G (p.Pro372Arg) http://identifiers.org/clinvar/237824 ^@ NM_000465.3(BARD1):c.1702G>C (p.Gly568Arg) http://identifiers.org/clinvar/239817 ^@ NM_004304.4(ALK):c.3030C>T (p.His1010=) http://identifiers.org/clinvar/237373 ^@ NM_000251.2(MSH2):c.1662-3C>T http://identifiers.org/clinvar/237172 ^@ NM_000179.2(MSH6):c.2962C>T (p.Arg988Cys) http://identifiers.org/clinvar/241757 ^@ NM_053025.3(MYLK):c.3127C>G (p.Pro1043Ala) http://identifiers.org/clinvar/237323 ^@ NM_000249.3(MLH1):c.1824T>A (p.Ala608=) http://identifiers.org/clinvar/242207 ^@ NM_198056.2(SCN5A):c.703+6A>G http://identifiers.org/clinvar/238613 ^@ NM_001166110.1(PALLD):c.520G>C (p.Ala174Pro) http://identifiers.org/clinvar/240368 ^@ NM_006206.4(PDGFRA):c.987G>T (p.Leu329=) http://identifiers.org/clinvar/240318 ^@ NM_006206.4(PDGFRA):c.1849C>T (p.Arg617Trp) http://identifiers.org/clinvar/237273 ^@ NM_000222.2(KIT):c.297C>T (p.Asn99=) http://identifiers.org/clinvar/241857 ^@ NM_139076.2(FAM175A):c.676T>C (p.Leu226=) http://identifiers.org/clinvar/236567 ^@ NM_000038.5(APC):c.2026A>G (p.Ile676Val) http://identifiers.org/clinvar/236617 ^@ NM_000038.5(APC):c.5282A>C (p.Asn1761Thr) http://identifiers.org/clinvar/240218 ^@ NM_005732.3(RAD50):c.1847A>G (p.Lys616Arg) http://identifiers.org/clinvar/238963 ^@ NM_001369.2(DNAH5):c.13467G>A (p.Gln4489=) http://identifiers.org/clinvar/239064 ^@ NM_001903.4(CTNNA1):c.2343A>G (p.Gln781=) http://identifiers.org/clinvar/239667 ^@ NM_004168.3(SDHA):c.423C>T (p.Tyr141=) http://identifiers.org/clinvar/239414 ^@ NM_002890.2(RASA1):c.2638T>A (p.Ser880Thr) http://identifiers.org/clinvar/239214 ^@ NM_002667.4(PLN):c.-97-?_*1344+?del http://identifiers.org/clinvar/239114 ^@ NM_002290.4(LAMA4):c.4851T>C (p.Asn1617=) http://identifiers.org/clinvar/237121 ^@ NM_000165.4(GJA1):c.526A>G (p.Ile176Val) http://identifiers.org/clinvar/241407 ^@ NM_021930.5(RINT1):c.388G>A (p.Ala130Thr) http://identifiers.org/clinvar/238913 ^@ NM_001277115.1(DNAH11):c.3933A>G (p.Pro1311=) http://identifiers.org/clinvar/261806 ^@ NM_025074.6(FRAS1):c.3151+14_3151+15dupTG http://identifiers.org/clinvar/258516 ^@ NM_001999.3(FBN2):c.3343+35T>A http://identifiers.org/clinvar/257977 ^@ NM_001369.2(DNAH5):c.11289C>T (p.Asn3763=) http://identifiers.org/clinvar/258027 ^@ NM_001369.2(DNAH5):c.4053+32C>T http://identifiers.org/clinvar/261556 ^@ NM_022132.4(MCCC2):c.1488+10G>A http://identifiers.org/clinvar/257377 ^@ NM_001080479.2(ARHGEF28):c.823A>C (p.Arg275=) http://identifiers.org/clinvar/259366 ^@ NM_004385.4(VCAN):c.4569A>G (p.Thr1523=) http://identifiers.org/clinvar/256077 ^@ NM_000426.3(LAMA2):c.5727-27C>A http://identifiers.org/clinvar/262206 ^@ NM_033071.3(SYNE1):c.9829-50G>A http://identifiers.org/clinvar/262156 ^@ NM_033071.3(SYNE1):c.1206+46A>G http://identifiers.org/clinvar/257627 ^@ NM_001206927.1(DNAH8):c.11511G>A (p.Arg3837=) http://identifiers.org/clinvar/262406 ^@ NM_138694.3(PKHD1):c.5909-46A>G http://identifiers.org/clinvar/259616 ^@ NM_005045.3(RELN):c.8668-32_8668-29delTTTT http://identifiers.org/clinvar/262306 ^@ NM_058246.3(DNAJB6):c.429G>C (p.Ala143=) http://identifiers.org/clinvar/257877 ^@ NM_001277115.1(DNAH11):c.1974-20G>A http://identifiers.org/clinvar/257927 ^@ NM_001277115.1(DNAH11):c.7334C>T (p.Ser2445Leu) http://identifiers.org/clinvar/262656 ^@ NM_152564.4(VPS13B):c.11787C>T (p.Asn3929=) http://identifiers.org/clinvar/260417 ^@ NM_014425.4(INVS):c.615+13G>T http://identifiers.org/clinvar/255138 ^@ NM_000113.2(TOR1A):c.813C>G (p.Pro271=) http://identifiers.org/clinvar/255088 ^@ NM_000093.4(COL5A1):c.4447-45G>A http://identifiers.org/clinvar/259767 ^@ NM_005445.3(SMC3):c.1410-48T>C http://identifiers.org/clinvar/260467 ^@ NM_014915.2(ANKRD26):c.3913G>A (p.Val1305Ile) http://identifiers.org/clinvar/258966 ^@ NM_003156.3(STIM1):c.1080A>G (p.Gln360=) http://identifiers.org/clinvar/259166 ^@ NM_003793.3(CTSF):c.126C>T (p.Pro42=) http://identifiers.org/clinvar/258566 ^@ NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) http://identifiers.org/clinvar/258816 ^@ NM_002834.4(PTPN11):c.381T>C (p.Thr127=) http://identifiers.org/clinvar/256677 ^@ NM_000552.4(VWF):c.391G>A (p.Gly131Ser) http://identifiers.org/clinvar/257327 ^@ NM_001065.3(TNFRSF1A):c.740-9T>C http://identifiers.org/clinvar/261756 ^@ NM_024685.3(BBS10):c.474G>T (p.Ser158=) http://identifiers.org/clinvar/258666 ^@ NM_002469.2(MYF6):c.135G>A (p.Gln45=) http://identifiers.org/clinvar/262256 ^@ NM_052867.2(NALCN):c.2457-4C>G http://identifiers.org/clinvar/261606 ^@ NM_022489.3(INF2):c.2310+8delA http://identifiers.org/clinvar/257127 ^@ NM_001024858.2(SPTB):c.4818C>T (p.Tyr1606=) http://identifiers.org/clinvar/261956 ^@ NM_031427.3(DNAL1):c.*32T>C http://identifiers.org/clinvar/332562 ^@ NM_003659.3(AGPS):c.*1878_*1885delGTATATAT http://identifiers.org/clinvar/335003 ^@ NM_005199.4(CHRNG):c.460G>A (p.Val154Ile) http://identifiers.org/clinvar/332912 ^@ NM_133378.4(TTN):c.20307G>A (p.Pro6769=) http://identifiers.org/clinvar/332812 ^@ NM_133378.4(TTN):c.56237C>T (p.Ser18746Leu) http://identifiers.org/clinvar/332862 ^@ NM_133378.4(TTN):c.38189A>G (p.Glu12730Gly) http://identifiers.org/clinvar/333262 ^@ NM_007315.3(STAT1):c.*304A>T http://identifiers.org/clinvar/333012 ^@ NM_201548.4(CERKL):c.251A>T (p.Tyr84Phe) http://identifiers.org/clinvar/333562 ^@ NM_001044385.2(TMEM237):c.736G>A (p.Val246Met) http://identifiers.org/clinvar/336410 ^@ NM_002354.2(EPCAM):c.272A>G (p.Asn91Ser) http://identifiers.org/clinvar/334203 ^@ NM_000465.3(BARD1):c.-114A>G http://identifiers.org/clinvar/336560 ^@ NM_001135659.2(NRXN1):c.-224G>A http://identifiers.org/clinvar/334503 ^@ NM_015311.2(OBSL1):c.2682C>T (p.Asp894=) http://identifiers.org/clinvar/334303 ^@ NM_014140.3(SMARCAL1):c.*30T>G http://identifiers.org/clinvar/334553 ^@ NM_181457.3(PAX3):c.*106dupT http://identifiers.org/clinvar/334353 ^@ NM_004328.4(BCS1L):c.-127T>C http://identifiers.org/clinvar/342350 ^@ NM_016247.3(IMPG2):c.1382C>G (p.Thr461Arg) http://identifiers.org/clinvar/334703 ^@ NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) http://identifiers.org/clinvar/335053 ^@ NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) http://identifiers.org/clinvar/334753 ^@ NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) http://identifiers.org/clinvar/334803 ^@ NM_000091.4(COL4A3):c.*1070dupA http://identifiers.org/clinvar/335203 ^@ NM_004544.3(NDUFA10):c.270G>A (p.Gly90=) http://identifiers.org/clinvar/334853 ^@ NM_025243.3(SLC19A3):c.*1320C>T http://identifiers.org/clinvar/334903 ^@ NM_004509.3(SP110):c.1464C>T (p.Cys488=) http://identifiers.org/clinvar/335353 ^@ NM_001035256.2(POMC):c.*28delT http://identifiers.org/clinvar/343289 ^@ NM_000539.3(RHO):c.*224C>T http://identifiers.org/clinvar/335503 ^@ NM_000221.2(KHK):c.*49C>T http://identifiers.org/clinvar/335153 ^@ NM_004544.3(NDUFA10):c.*3408T>C http://identifiers.org/clinvar/335303 ^@ NM_000030.2(AGXT):c.*160G>A http://identifiers.org/clinvar/335403 ^@ NM_000183.2(HADHB):c.210-5C>A http://identifiers.org/clinvar/343889 ^@ NM_004733.3(SLC33A1):c.-281C>T http://identifiers.org/clinvar/344139 ^@ NM_000340.1(SLC2A2):c.*1164T>C http://identifiers.org/clinvar/357395 ^@ NM_138694.3(PKHD1):c.*780A>G http://identifiers.org/clinvar/354555 ^@ NM_002397.4(MEF2C):c.*3219A>G http://identifiers.org/clinvar/354655 ^@ NM_000439.4(PCSK1):c.-96C>T http://identifiers.org/clinvar/358034 ^@ NM_004999.3(MYO6):c.*2882delT http://identifiers.org/clinvar/358384 ^@ NM_005045.3(RELN):c.8673C>T (p.Phe2891=) http://identifiers.org/clinvar/355206 ^@ NM_006073.3(TRDN):c.*137G>A http://identifiers.org/clinvar/358734 ^@ NM_000492.3(CFTR):c.3468+6T>A http://identifiers.org/clinvar/358784 ^@ NM_006193.2(PAX4):c.*492G>A http://identifiers.org/clinvar/358884 ^@ NM_018718.2(CEP41):c.*5068G>A http://identifiers.org/clinvar/356045 ^@ NM_003730.4(RNASET2):c.-114G>C http://identifiers.org/clinvar/356095 ^@ NM_000367.4(TPMT):c.*1511G>A http://identifiers.org/clinvar/356295 ^@ NM_001710.5(CFB):c.2100C>T (p.Gly700=) http://identifiers.org/clinvar/356345 ^@ NM_006929.4(SKIV2L):c.3201T>C (p.Tyr1067=) http://identifiers.org/clinvar/356395 ^@ NM_080680.2(COL11A2):c.3092C>T (p.Pro1031Leu) http://identifiers.org/clinvar/359784 ^@ NM_032581.3(FAM126A):c.-29+4A>T http://identifiers.org/clinvar/356445 ^@ NM_021922.2(FANCE):c.480C>A (p.Cys160Ter) http://identifiers.org/clinvar/359834 ^@ NM_004403.2(DFNA5):c.*224_*227dupTTAG http://identifiers.org/clinvar/352416 ^@ NM_000337.5(SGCD):c.*6016G>A http://identifiers.org/clinvar/359884 ^@ NM_018947.5(CYCS):c.*3614A>G http://identifiers.org/clinvar/356495 ^@ NM_182548.3(LHFPL5):c.*231G>C http://identifiers.org/clinvar/356545 ^@ NM_182548.3(LHFPL5):c.*560G>C http://identifiers.org/clinvar/352566 ^@ NM_002187.2(IL12B):c.*408C>T http://identifiers.org/clinvar/352316 ^@ NM_000171.3(GLRA1):c.522C>T (p.Pro174=) http://identifiers.org/clinvar/352366 ^@ NM_000337.5(SGCD):c.*2814G>T http://identifiers.org/clinvar/352716 ^@ NM_012188.4(FOXI1):c.*418T>C http://identifiers.org/clinvar/353305 ^@ NM_004172.4(SLC1A3):c.-280C>T http://identifiers.org/clinvar/357445 ^@ NM_138694.3(PKHD1):c.2006G>A (p.Arg669His) http://identifiers.org/clinvar/353355 ^@ NM_004172.4(SLC1A3):c.*1605T>A http://identifiers.org/clinvar/357934 ^@ NM_004415.3(DSP):c.-36C>A http://identifiers.org/clinvar/353705 ^@ NM_000163.4(GHR):c.*1253_*1256delCAGA http://identifiers.org/clinvar/363832 ^@ NM_000067.2(CA2):c.-53G>T http://identifiers.org/clinvar/363932 ^@ NM_153704.5(TMEM67):c.*300G>A http://identifiers.org/clinvar/306329 ^@ NM_012193.3(FZD4):c.*5077C>G http://identifiers.org/clinvar/306429 ^@ NM_001814.5(CTSC):c.263A>G (p.Tyr88Cys) http://identifiers.org/clinvar/361073 ^@ NM_017890.4(VPS13B):c.7750G>T (p.Val2584Leu) http://identifiers.org/clinvar/306529 ^@ NM_016156.5(MTMR2):c.*207A>G http://identifiers.org/clinvar/300075 ^@ NM_000124.3(ERCC6):c.1992+7C>T http://identifiers.org/clinvar/306629 ^@ NM_139319.2(SLC17A8):c.723G>A (p.Leu241=) http://identifiers.org/clinvar/364282 ^@ NM_001701.3(BAAT):c.178C>T (p.Leu60=) http://identifiers.org/clinvar/300225 ^@ NM_000417.2(IL2RA):c.*1454A>G http://identifiers.org/clinvar/306779 ^@ NM_024312.4(GNPTAB):c.*842T>G http://identifiers.org/clinvar/300275 ^@ NM_000399.4(EGR2):c.1360T>G (p.Cys454Gly) http://identifiers.org/clinvar/364332 ^@ NM_005502.3(ABCA1):c.*2486T>C http://identifiers.org/clinvar/306929 ^@ NM_018082.5(POLR3B):c.685A>T (p.Thr229Ser) http://identifiers.org/clinvar/307029 ^@ NM_052845.3(MMAB):c.*1657G>A http://identifiers.org/clinvar/307079 ^@ NM_052845.3(MMAB):c.561C>T (p.Ala187=) http://identifiers.org/clinvar/307179 ^@ NM_001681.3(ATP2A2):c.2185G>A (p.Ala729Thr) http://identifiers.org/clinvar/300575 ^@ NM_004273.4(CHST3):c.*406G>A http://identifiers.org/clinvar/300625 ^@ NM_004273.4(CHST3):c.*2026A>G http://identifiers.org/clinvar/364532 ^@ NM_001079802.1(FKTN):c.*5618T>A http://identifiers.org/clinvar/364582 ^@ NM_003640.4(IKBKAP):c.203G>T (p.Ser68Ile) http://identifiers.org/clinvar/364882 ^@ NM_002316.3(LMX1B):c.647C>T (p.Pro216Leu) http://identifiers.org/clinvar/364932 ^@ NM_002316.3(LMX1B):c.*1538C>G http://identifiers.org/clinvar/364782 ^@ NM_018249.5(CDK5RAP2):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/364832 ^@ NM_000177.4(GSN):c.*115_*116dupGT http://identifiers.org/clinvar/365032 ^@ NM_138361.5(LRSAM1):c.1860C>T (p.His620=) http://identifiers.org/clinvar/365232 ^@ NM_000113.2(TOR1A):c.*112G>C http://identifiers.org/clinvar/308168 ^@ NM_000719.6(CACNA1C):c.*267G>C http://identifiers.org/clinvar/308368 ^@ NM_139241.3(FGD4):c.*4862C>A http://identifiers.org/clinvar/365082 ^@ NM_000118.3(ENG):c.*385C>A http://identifiers.org/clinvar/308568 ^@ NM_017641.3(KIF21A):c.2502A>G (p.Lys834=) http://identifiers.org/clinvar/365132 ^@ NM_001003722.1(GLE1):c.321+13T>G http://identifiers.org/clinvar/308768 ^@ NM_016123.3(IRAK4):c.*2666G>T http://identifiers.org/clinvar/309018 ^@ NM_003482.3(KMT2D):c.12803G>A (p.Gly4268Glu) http://identifiers.org/clinvar/365682 ^@ NM_000787.3(DBH):c.*278T>C http://identifiers.org/clinvar/309468 ^@ NM_000020.2(ACVRL1):c.*1351G>A http://identifiers.org/clinvar/309518 ^@ NM_002282.3(KRT83):c.815G>A (p.Arg272Gln) http://identifiers.org/clinvar/309568 ^@ NM_000424.3(KRT5):c.381C>A (p.Phe127Leu) http://identifiers.org/clinvar/309618 ^@ NM_000423.2(KRT2):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/309718 ^@ NM_015665.5(AAAS):c.1597G>A (p.Gly533Arg) http://identifiers.org/clinvar/309768 ^@ NM_001173467.2(SP7):c.-47-15dupC http://identifiers.org/clinvar/366522 ^@ NM_001256054.2(C9orf72):c.1238T>C (p.Ile413Thr) http://identifiers.org/clinvar/310812 ^@ NM_018979.3(WNK1):c.3016C>T (p.Pro1006Ser) http://identifiers.org/clinvar/366822 ^@ NM_005476.5(GNE):c.*1032_*1037delCACACA http://identifiers.org/clinvar/306679 ^@ NM_018979.3(WNK1):c.*654_*655delTT http://identifiers.org/clinvar/302974 ^@ NG_012235.1:g.5777C>T http://identifiers.org/clinvar/367022 ^@ NM_203447.3(DOCK8):c.5139C>T (p.Asp1713=) http://identifiers.org/clinvar/303074 ^@ NM_006918.4(SC5D):c.*1860A>G http://identifiers.org/clinvar/340449 ^@ NM_006657.2(FTCD):c.49C>A (p.Gln17Lys) http://identifiers.org/clinvar/340499 ^@ NM_006031.5(PCNT):c.5257C>T (p.Leu1753=) http://identifiers.org/clinvar/322436 ^@ NM_003593.2(FOXN1):c.1795G>C (p.Ala599Pro) http://identifiers.org/clinvar/341150 ^@ NM_000268.3(NF2):c.*2487A>G http://identifiers.org/clinvar/322736 ^@ NM_145068.3(TRPV3):c.*631A>G http://identifiers.org/clinvar/341500 ^@ NM_002473.5(MYH9):c.4474A>G (p.Lys1492Glu) http://identifiers.org/clinvar/322836 ^@ NM_004937.2(CTNS):c.116C>T (p.Ser39Leu) http://identifiers.org/clinvar/341550 ^@ NM_013416.3(NCF4):c.240T>C (p.Ser80=) http://identifiers.org/clinvar/341600 ^@ NM_153609.3(TMPRSS6):c.564C>T (p.Ala188=) http://identifiers.org/clinvar/322986 ^@ NM_001004334.3(GPR179):c.4306C>T (p.Arg1436Trp) http://identifiers.org/clinvar/341950 ^@ NM_025225.2(PNPLA3):c.*71T>G http://identifiers.org/clinvar/315811 ^@ NM_002225.3(IVD):c.*447C>G http://identifiers.org/clinvar/323825 ^@ NM_004287.4(GOSR2):c.404A>G (p.Asn135Ser) http://identifiers.org/clinvar/323925 ^@ NM_018129.3(PNPO):c.*825C>A http://identifiers.org/clinvar/324182 ^@ NM_015294.4(TRIM37):c.*634A>T http://identifiers.org/clinvar/324232 ^@ NM_000717.4(CA4):c.449C>T (p.Ser150Leu) http://identifiers.org/clinvar/316550 ^@ NM_182758.3(WDR72):c.*1577G>C http://identifiers.org/clinvar/324282 ^@ NM_018488.3(TBX4):c.*627T>C http://identifiers.org/clinvar/316800 ^@ NM_004727.2(SLC24A1):c.2171C>T (p.Thr724Met) http://identifiers.org/clinvar/316900 ^@ NM_005902.3(SMAD3):c.*1326A>G http://identifiers.org/clinvar/317050 ^@ NM_000520.5(HEXA):c.-59G>A http://identifiers.org/clinvar/317100 ^@ NM_022369.3(STRA6):c.1685-5C>G http://identifiers.org/clinvar/317200 ^@ NM_000137.2(FAH):c.-34C>T http://identifiers.org/clinvar/317401 ^@ NM_001039958.1(MESP2):c.*326C>T http://identifiers.org/clinvar/315611 ^@ NM_133647.1(SLC12A6):c.2106T>C (p.Tyr702=) http://identifiers.org/clinvar/315711 ^@ NM_005159.4(ACTC1):c.537T>A (p.Arg179=) http://identifiers.org/clinvar/317801 ^@ NM_032520.4(GNPTG):c.-42G>C http://identifiers.org/clinvar/371995 ^@ NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) http://identifiers.org/clinvar/371895 ^@ NM_000314.6(PTEN):c.1026+38dupT http://identifiers.org/clinvar/371845 ^@ NM_000059.3(BRCA2):c.4570_4573delTTTC (p.Phe1524Ilefs) http://identifiers.org/clinvar/372095 ^@ NM_032043.2(BRIP1):c.1629-500G>A http://identifiers.org/clinvar/372045 ^@ NM_000455.4(STK11):c.1109-13G>A http://identifiers.org/clinvar/372157 ^@ NM_003038.4(SLC1A4):c.944_945delTT (p.Leu315Hisfs) http://identifiers.org/clinvar/372224 ^@ NM_176869.2(PPA2):c.318G>T (p.Met106Ile) http://identifiers.org/clinvar/372278 ^@ NM_024854.3(PYROXD1):c.285+1G>A http://identifiers.org/clinvar/372899 ^@ NM_002923.3(RGS2):c.274+1G>T http://identifiers.org/clinvar/372848 ^@ NM_001039802.1(CDC42):c.124G>A (p.Val42Ile) http://identifiers.org/clinvar/372951 ^@ NM_004700.3(KCNQ4):c.824G>C (p.Trp275Ser) http://identifiers.org/clinvar/373301 ^@ NM_212482.2(FN1):c.976C>T (p.Gln326Ter) http://identifiers.org/clinvar/372331 ^@ NM_000094.3(COL7A1):c.2223_2226dupTGGA (p.Leu743Trpfs) http://identifiers.org/clinvar/372432 ^@ NM_199069.1(NDUFAF3):c.489_490delTG (p.Gly164Serfs) http://identifiers.org/clinvar/373201 ^@ NM_005670.3(EPM2A):c.487A>G (p.Asn163Asp) http://identifiers.org/clinvar/373351 ^@ NM_001080449.2(DNA2):c.992G>A (p.Gly331Asp) http://identifiers.org/clinvar/372541 ^@ NM_000368.4(TSC1):c.2106_2109delACTCinsTTGTTTTAAGAGCGTTT (p.Leu702Phefs) http://identifiers.org/clinvar/372795 ^@ NM_003289.3(TPM2):c.279G>C (p.Gln93His) http://identifiers.org/clinvar/372488 ^@ NM_000448.2(RAG1):c.2974A>G (p.Lys992Glu) http://identifiers.org/clinvar/373251 ^@ NM_014391.2(ANKRD1):c.131A>G (p.Asp44Gly) http://identifiers.org/clinvar/372642 ^@ NM_144670.5(A2ML1):c.171G>T (p.Glu57Asp) http://identifiers.org/clinvar/372745 ^@ NM_017547.3(FOXRED1):c.406C>T (p.Arg136Trp) http://identifiers.org/clinvar/373001 ^@ NM_002968.2(SALL1):c.3154C>T (p.Gln1052Ter) http://identifiers.org/clinvar/372381 ^@ NM_000458.3(HNF1B):c.541C>T (p.Arg181Ter) http://identifiers.org/clinvar/373101 ^@ NM_000346.3(SOX9):c.1180C>T (p.Arg394Ter) http://identifiers.org/clinvar/372695 ^@ NM_030662.3(MAP2K2):c.216C>G (p.Phe72Leu) http://identifiers.org/clinvar/372591 ^@ NM_003639.4(IKBKG):c.220delG (p.Glu74Serfs) http://identifiers.org/clinvar/373051 ^@ NM_000284.3(PDHA1):c.921_932dupTCAGGAAGTAAG (p.Val310_Arg311insSerGlnGluVal) http://identifiers.org/clinvar/373151 ^@ NM_001193416.2(DDX3X):c.1484T>C (p.Leu495Ser) http://identifiers.org/clinvar/383561 ^@ NM_000251.2(MSH2):c.885C>T (p.Asp295=) http://identifiers.org/clinvar/389830 ^@ NM_020919.3(ALS2):c.368G>A (p.Cys123Tyr) http://identifiers.org/clinvar/387841 ^@ NM_001135659.2(NRXN1):c.-906A>C http://identifiers.org/clinvar/387291 ^@ NM_152393.3(KLHL40):c.*12A>T http://identifiers.org/clinvar/381557 ^@ NM_000249.3(MLH1):c.2104-11G>C http://identifiers.org/clinvar/392829 ^@ NM_198056.2(SCN5A):c.5511C>A (p.Asn1837Lys) http://identifiers.org/clinvar/390130 ^@ NM_006514.3(SCN10A):c.903G>A (p.Lys301=) http://identifiers.org/clinvar/385152 ^@ NM_000258.2(MYL3):c.222G>A (p.Gly74=) http://identifiers.org/clinvar/387491 ^@ NM_003494.3(DYSF):c.343-16G>A http://identifiers.org/clinvar/382899 ^@ NM_024582.4(FAT4):c.11423A>G (p.His3808Arg) http://identifiers.org/clinvar/393079 ^@ NM_006846.3(SPINK5):c.2964G>A (p.Leu988=) http://identifiers.org/clinvar/385002 ^@ NM_002887.3(RARS):c.1626-5T>C http://identifiers.org/clinvar/384602 ^@ NM_025265.3(TSEN2):c.909+15T>C http://identifiers.org/clinvar/383199 ^@ NM_000038.5(APC):c.8199A>G (p.Gln2733=) http://identifiers.org/clinvar/387541 ^@ NM_001182.4(ALDH7A1):c.393+12T>C http://identifiers.org/clinvar/388441 ^@ NM_021911.2(GABRB2):c.816T>A (p.Ala272=) http://identifiers.org/clinvar/379514 ^@ NM_000249.3(MLH1):c.1897G>T (p.Glu633Ter) http://identifiers.org/clinvar/380065 ^@ NM_013391.3(DMGDH):c.1815-9A>G http://identifiers.org/clinvar/390030 ^@ NM_000387.5(SLC25A20):c.327-13G>C http://identifiers.org/clinvar/385252 ^@ NM_000426.3(LAMA2):c.9051A>G (p.Pro3017=) http://identifiers.org/clinvar/384301 ^@ NM_024582.4(FAT4):c.14712C>T (p.Gly4904=) http://identifiers.org/clinvar/384802 ^@ NM_004333.4(BRAF):c.1433-7C>G http://identifiers.org/clinvar/383611 ^@ NM_000083.2(CLCN1):c.-15T>G http://identifiers.org/clinvar/381757 ^@ NM_001999.3(FBN2):c.5201-3T>C http://identifiers.org/clinvar/387641 ^@ NM_000443.3(ABCB4):c.1230+15A>G http://identifiers.org/clinvar/378864 ^@ NM_005431.1(XRCC2):c.264T>C (p.Asp88=) http://identifiers.org/clinvar/379114 ^@ NM_000816.3(GABRG2):c.269C>T (p.Thr90Met) http://identifiers.org/clinvar/387141 ^@ NM_000048.3(ASL):c.524+12G>T http://identifiers.org/clinvar/384902 ^@ NM_002454.2(MTRR):c.828G>A (p.Val276=) http://identifiers.org/clinvar/378764 ^@ NM_000368.4(TSC1):c.-159G>A http://identifiers.org/clinvar/388391 ^@ NM_005654.5(NR2F1):c.192C>T (p.Pro64=) http://identifiers.org/clinvar/389930 ^@ NM_000445.4(PLEC):c.13386C>T (p.Leu4462=) http://identifiers.org/clinvar/389130 ^@ NM_000445.4(PLEC):c.6505G>A (p.Ala2169Thr) http://identifiers.org/clinvar/382209 ^@ NM_020745.3(AARS2):c.2032C>T (p.Arg678Trp) http://identifiers.org/clinvar/385452 ^@ NM_000136.2(FANCC):c.997-15T>C http://identifiers.org/clinvar/390330 ^@ NM_001851.4(COL9A1):c.1002T>A (p.Pro334=) http://identifiers.org/clinvar/388241 ^@ NM_000141.4(FGFR2):c.376G>A (p.Asp126Asn) http://identifiers.org/clinvar/378662 ^@ NM_001130438.2(SPTAN1):c.6417C>T (p.Asp2139=) http://identifiers.org/clinvar/382058 ^@ NM_000050.4(ASS1):c.688+10C>T http://identifiers.org/clinvar/135224 ^@ NM_014159.6(SETD2):c.557C>T (p.Pro186Leu) http://identifiers.org/clinvar/135275 ^@ NM_003745.1(SOCS1):c.630G>C (p.Gln210His) http://identifiers.org/clinvar/135325 ^@ NM_001127208.2(TET2):c.920T>G (p.Leu307Arg) http://identifiers.org/clinvar/135375 ^@ NM_000548.4(TSC2):c.2761C>G (p.Leu921Val) http://identifiers.org/clinvar/135426 ^@ NM_000553.4(WRN):c.3097C>T (p.Arg1033Trp) http://identifiers.org/clinvar/135476 ^@ NM_004628.4(XPC):c.300G>A (p.Arg100=) http://identifiers.org/clinvar/185676 ^@ NM_002878.3(RAD51D):c.143A>G (p.Lys48Arg) http://identifiers.org/clinvar/185826 ^@ NM_007294.3(BRCA1):c.3083G>T (p.Arg1028Leu) http://identifiers.org/clinvar/183786 ^@ NM_007294.3(BRCA1):c.2979A>G (p.Lys993=) http://identifiers.org/clinvar/185526 ^@ NM_007294.3(BRCA1):c.2898T>C (p.Ile966=) http://identifiers.org/clinvar/185726 ^@ NM_007294.3(BRCA1):c.2281G>C (p.Glu761Gln) http://identifiers.org/clinvar/185226 ^@ NM_032043.2(BRIP1):c.2285G>A (p.Arg762His) http://identifiers.org/clinvar/183836 ^@ NM_000546.5(TP53):c.6G>A (p.Glu2=) http://identifiers.org/clinvar/184926 ^@ NM_007194.3(CHEK2):c.1590C>T (p.Ala530=) http://identifiers.org/clinvar/185176 ^@ NM_007194.3(CHEK2):c.1489delG (p.Asp497Ilefs) http://identifiers.org/clinvar/184676 ^@ NM_007194.3(CHEK2):c.288A>G (p.Leu96=) http://identifiers.org/clinvar/188981 ^@ NM_000466.2(PEX1):c.3693_3696delGTCA (p.Gln1231Hisfs) http://identifiers.org/clinvar/189182 ^@ NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAGAA (p.Thr3927Lysfs) http://identifiers.org/clinvar/189032 ^@ NM_000057.3(BLM):c.581_582delTT (p.Phe194Terfs) http://identifiers.org/clinvar/189082 ^@ NM_000152.4(GAA):c.1309C>T (p.Arg437Cys) http://identifiers.org/clinvar/189132 ^@ NM_000500.7:c.*28698317T>A http://identifiers.org/clinvar/189249 ^@ NM_000369.2(TSHR):c.545+2_545+3delTG http://identifiers.org/clinvar/189301 ^@ NM_000384.2(APOB):c.7134C>A (p.Ser2378Arg) http://identifiers.org/clinvar/189672 ^@ NM_004992.3(MECP2):c.(?_1336)_*(1_?)del http://identifiers.org/clinvar/189722 ^@ NM_004992.3(MECP2):c.807_*125del780 http://identifiers.org/clinvar/189772 ^@ NM_001110792.1(MECP2):c.48_55dupCGAGGAGG (p.Glu19Alafs) http://identifiers.org/clinvar/189856 ^@ NM_001165963.1(SCN1A):c.4088T>A (p.Ile1363Asn) http://identifiers.org/clinvar/227736 ^@ NM_006393.2(NEBL):c.2775C>T (p.Pro925=) http://identifiers.org/clinvar/228987 ^@ NM_017433.4(MYO3A):c.743C>G (p.Pro248Arg) http://identifiers.org/clinvar/227836 ^@ NM_001142771.1(PCDH15):c.4627G>A (p.Gly1543Ser) http://identifiers.org/clinvar/228487 ^@ NM_022124.5(CDH23):c.2032G>A (p.Val678Ile) http://identifiers.org/clinvar/227987 ^@ NM_005422.2(TECTA):c.1968C>A (p.Gly656=) http://identifiers.org/clinvar/227786 ^@ NM_001277269.1(OTOG):c.5503G>A (p.Gly1835Ser) http://identifiers.org/clinvar/227686 ^@ NM_000260.3(MYO7A):c.4650G>A (p.Pro1550=) http://identifiers.org/clinvar/228287 ^@ NM_004572.3(PKP2):c.1301dupC (p.Glu435Terfs) http://identifiers.org/clinvar/228887 ^@ NM_002471.3(MYH6):c.1347G>T (p.Glu449Asp) http://identifiers.org/clinvar/227586 ^@ NM_002471.3(MYH6):c.297C>T (p.Pro99=) http://identifiers.org/clinvar/228687 ^@ NM_000138.4(FBN1):c.787A>G (p.Ile263Val) http://identifiers.org/clinvar/227636 ^@ NM_016239.3(MYO15A):c.2028C>A (p.Pro676=) http://identifiers.org/clinvar/226715 ^@ NM_144612.6(LOXHD1):c.2871G>A (p.Ser957=) http://identifiers.org/clinvar/228837 ^@ NM_144612.6(LOXHD1):c.683C>T (p.Pro228Leu) http://identifiers.org/clinvar/228037 ^@ NM_001039141.2(TRIOBP):c.5488-14C>T http://identifiers.org/clinvar/228787 ^@ NM_002294.2(LAMP2):c.610A>C (p.Thr204Pro) http://identifiers.org/clinvar/228587 ^@ NM_004006.2(DMD):c.4082G>C (p.Arg1361Thr) http://identifiers.org/clinvar/228337 ^@ NM_001399.4(EDA):c.648_683del36 (p.Pro219_Gly230del) http://identifiers.org/clinvar/232217 ^@ NM_001128425.1(MUTYH):c.421C>T (p.Gln141Ter) http://identifiers.org/clinvar/230578 ^@ NM_001128425.1(MUTYH):c.245C>A (p.Ser82Tyr) http://identifiers.org/clinvar/233368 ^@ NM_000465.3(BARD1):c.1904-3C>T http://identifiers.org/clinvar/233068 ^@ NM_000465.3(BARD1):c.1746G>A (p.Gln582=) http://identifiers.org/clinvar/232367 ^@ NM_000465.3(BARD1):c.65C>T (p.Ser22Phe) http://identifiers.org/clinvar/231328 ^@ NM_000179.2(MSH6):c.925T>A (p.Ser309Thr) http://identifiers.org/clinvar/230978 ^@ NM_000179.2(MSH6):c.1519dupA (p.Arg507Lysfs) http://identifiers.org/clinvar/231078 ^@ NM_000179.2(MSH6):c.3280T>G (p.Ser1094Ala) http://identifiers.org/clinvar/232668 ^@ NM_000249.3(MLH1):c.887T>C (p.Leu296Ser) http://identifiers.org/clinvar/231578 ^@ NM_000038.5(APC):c.1344T>A (p.Pro448=) http://identifiers.org/clinvar/233468 ^@ NM_000038.5(APC):c.3014C>T (p.Ala1005Val) http://identifiers.org/clinvar/233118 ^@ NM_000038.5(APC):c.3509A>G (p.Lys1170Arg) http://identifiers.org/clinvar/232718 ^@ NM_000038.5(APC):c.3964G>A (p.Glu1322Lys) http://identifiers.org/clinvar/264053 ^@ NM_001018005.1(TPM1):c.524A>G (p.Asp175Gly) http://identifiers.org/clinvar/263400 ^@ NM_002474.2(MYH11):c.3358A>G (p.Ile1120Val) http://identifiers.org/clinvar/263501 ^@ NM_001943.4(DSG2):c.208A>G (p.Ile70Val) http://identifiers.org/clinvar/263603 ^@ NM_006440.4(TXNRD2):c.903C>T (p.Thr301=) http://identifiers.org/clinvar/264153 ^@ NM_001456.3(FLNA):c.2778C>T (p.Ile926=) http://identifiers.org/clinvar/264929 ^@ NM_000059.3(BRCA2):c.7007+126_7007+134dup http://identifiers.org/clinvar/264879 ^@ NM_000059.3(BRCA2):c.8332-1523C>T http://identifiers.org/clinvar/264979 ^@ NM_000059.3(BRCA2):c.8633-2587T>G http://identifiers.org/clinvar/264829 ^@ NM_007294.3(BRCA1):c.594-465_594-455dup http://identifiers.org/clinvar/265389 ^@ NM_000089.3(COL1A2):c.1658G>A (p.Gly553Asp) http://identifiers.org/clinvar/265339 ^@ NM_000127.2(EXT1):c.538_539delAG (p.Leu181Profs) http://identifiers.org/clinvar/265489 ^@ NM_002316.3(LMX1B):c.227G>A (p.Trp76Ter) http://identifiers.org/clinvar/265439 ^@ NM_033022.3(RPS24):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/265289 ^@ NM_000377.2(WAS):c.223G>A (p.Val75Met) http://identifiers.org/clinvar/280824 ^@ NM_006912.5(RIT1):c.304A>G (p.Ile102Val) http://identifiers.org/clinvar/290890 ^@ NM_175073.2(APTX):c.484-25_484-3del23 http://identifiers.org/clinvar/291908 ^@ NM_013319.2(UBIAD1):c.*1817_*1820delGAAA http://identifiers.org/clinvar/292008 ^@ NM_138959.2(VANGL1):c.765C>T (p.Val255=) http://identifiers.org/clinvar/292058 ^@ NM_138959.2(VANGL1):c.*2695C>A http://identifiers.org/clinvar/292258 ^@ NM_000198.3(HSD3B2):c.333T>G (p.Cys111Trp) http://identifiers.org/clinvar/292358 ^@ NM_000302.3(PLOD1):c.*419C>T http://identifiers.org/clinvar/291958 ^@ NM_002524.4(NRAS):c.*2513T>A http://identifiers.org/clinvar/292708 ^@ NM_006118.3(HAX1):c.*1C>G http://identifiers.org/clinvar/292108 ^@ NM_138959.2(VANGL1):c.*6360C>T http://identifiers.org/clinvar/292508 ^@ NM_004698.2(PRPF3):c.*64A>G http://identifiers.org/clinvar/292158 ^@ NM_005957.4(MTHFR):c.*4485C>T http://identifiers.org/clinvar/292558 ^@ NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=) http://identifiers.org/clinvar/292608 ^@ NM_000449.3(RFX5):c.1746G>C (p.Lys582Asn) http://identifiers.org/clinvar/292208 ^@ NM_005957.4(MTHFR):c.*1294G>A http://identifiers.org/clinvar/293008 ^@ NM_003126.2(SPTA1):c.2655T>C (p.Arg885=) http://identifiers.org/clinvar/293058 ^@ NM_003126.2(SPTA1):c.192T>A (p.Asp64Glu) http://identifiers.org/clinvar/293108 ^@ NM_002241.4(KCNJ10):c.*783A>G http://identifiers.org/clinvar/292758 ^@ NM_001111.4(ADAR):c.3523A>C (p.Arg1175=) http://identifiers.org/clinvar/293158 ^@ NM_000702.3(ATP1A2):c.*1000T>A http://identifiers.org/clinvar/292308 ^@ NM_006623.3(PHGDH):c.372G>A (p.Ala124=) http://identifiers.org/clinvar/292408 ^@ NM_014874.3(MFN2):c.*1562G>A http://identifiers.org/clinvar/292458 ^@ NM_005266.6(GJA5):c.-68C>T http://identifiers.org/clinvar/293208 ^@ NM_002857.3(PEX19):c.*1330G>A http://identifiers.org/clinvar/292658 ^@ NM_152263.3(TPM3):c.*2675T>C http://identifiers.org/clinvar/292908 ^@ NM_007272.2(CTRC):c.156C>T (p.Asn52=) http://identifiers.org/clinvar/292808 ^@ NM_000298.5(PKLR):c.1250C>T (p.Ala417Val) http://identifiers.org/clinvar/292858 ^@ NM_022367.3(SEMA4A):c.2187G>A (p.Pro729=) http://identifiers.org/clinvar/292958 ^@ NM_003126.2(SPTA1):c.6120+11delA http://identifiers.org/clinvar/293997 ^@ NM_005562.2(LAMC2):c.741C>A (p.Asp247Glu) http://identifiers.org/clinvar/294047 ^@ NM_005562.2(LAMC2):c.*1139A>T http://identifiers.org/clinvar/294147 ^@ NM_031935.2(HMCN1):c.4446T>C (p.Phe1482=) http://identifiers.org/clinvar/294447 ^@ NM_024529.4(CDC73):c.*2304T>G http://identifiers.org/clinvar/294497 ^@ NM_000186.3(CFH):c.1949G>T (p.Gly650Val) http://identifiers.org/clinvar/294547 ^@ NM_030787.3(CFHR5):c.880G>A (p.Glu294Lys) http://identifiers.org/clinvar/294597 ^@ NM_018136.4(ASPM):c.10039T>C (p.Leu3347=) http://identifiers.org/clinvar/294647 ^@ NM_018136.4(ASPM):c.2263G>A (p.Ala755Thr) http://identifiers.org/clinvar/294797 ^@ NM_001005337.2(PKP1):c.-96G>A http://identifiers.org/clinvar/294847 ^@ NM_001005337.2(PKP1):c.*616A>C http://identifiers.org/clinvar/294897 ^@ NM_001001430.2(TNNT2):c.-22G>T http://identifiers.org/clinvar/294997 ^@ NM_032409.2(PINK1):c.88G>C (p.Gly30Arg) http://identifiers.org/clinvar/295047 ^@ NM_005216.4(DDOST):c.*462A>G http://identifiers.org/clinvar/295097 ^@ NM_000228.2(LAMB3):c.1868G>A (p.Arg623Gln) http://identifiers.org/clinvar/344189 ^@ NM_198407.2(GHSR):c.*796A>T http://identifiers.org/clinvar/343339 ^@ NM_014382.3(ATP2C1):c.*686G>A http://identifiers.org/clinvar/343389 ^@ NM_153240.4(NPHP3):c.1172C>G (p.Pro391Arg) http://identifiers.org/clinvar/344389 ^@ NM_003722.4(TP63):c.1652+14A>C http://identifiers.org/clinvar/343989 ^@ NM_020800.2(IFT80):c.-296G>A http://identifiers.org/clinvar/336460 ^@ NM_000233.3(LHCGR):c.1669G>A (p.Glu557Lys) http://identifiers.org/clinvar/336510 ^@ NM_001135659.2(NRXN1):c.*2373G>A http://identifiers.org/clinvar/345178 ^@ NM_018075.4(ANO10):c.1669-8T>G http://identifiers.org/clinvar/344289 ^@ NM_145261.3(DNAJC19):c.*516A>G http://identifiers.org/clinvar/345228 ^@ NM_016006.4(ABHD5):c.*125A>T http://identifiers.org/clinvar/344439 ^@ NM_006580.3(CLDN16):c.-136T>C http://identifiers.org/clinvar/345528 ^@ NM_024513.3(FYCO1):c.1142C>T (p.Thr381Met) http://identifiers.org/clinvar/346128 ^@ NM_003280.2(TNNC1):c.*127C>T http://identifiers.org/clinvar/346278 ^@ NM_003392.4(WNT5A):c.-393_-391delCAC http://identifiers.org/clinvar/345278 ^@ NM_016006.4(ABHD5):c.*3730C>T http://identifiers.org/clinvar/346378 ^@ NM_001457.3(FLNB):c.*653G>A http://identifiers.org/clinvar/345378 ^@ NM_020208.3(SLC6A20):c.*1186T>C http://identifiers.org/clinvar/345478 ^@ NM_024513.3(FYCO1):c.*724C>A http://identifiers.org/clinvar/342300 ^@ NM_016247.3(IMPG2):c.*1598C>T http://identifiers.org/clinvar/346928 ^@ NM_182896.2(ARL13B):c.*1667_*1671delATATA http://identifiers.org/clinvar/347128 ^@ NM_005327.4(HADH):c.-51delC http://identifiers.org/clinvar/347178 ^@ NM_000204.4(CFI):c.-98T>C http://identifiers.org/clinvar/345878 ^@ NM_000094.3(COL7A1):c.1348C>T (p.Arg450Cys) http://identifiers.org/clinvar/343189 ^@ NM_014049.4(ACAD9):c.-57_-56delGT http://identifiers.org/clinvar/346328 ^@ NM_001457.3(FLNB):c.2931G>A (p.Leu977=) http://identifiers.org/clinvar/343239 ^@ NM_052985.3(IFT122):c.1392G>A (p.Glu464=) http://identifiers.org/clinvar/346428 ^@ NM_198859.3(PRICKLE2):c.*3755A>G http://identifiers.org/clinvar/343439 ^@ NM_001063.3(TF):c.739C>T (p.Leu247=) http://identifiers.org/clinvar/343489 ^@ NM_020191.2(MRPS22):c.732G>A (p.Lys244=) http://identifiers.org/clinvar/343539 ^@ NM_024334.2(TMEM43):c.*1584G>T http://identifiers.org/clinvar/346578 ^@ NM_032682.5(FOXP1):c.*2837dupA http://identifiers.org/clinvar/343589 ^@ NM_004628.4(XPC):c.-55G>T http://identifiers.org/clinvar/343739 ^@ NG_009847.1:g.48252T>G http://identifiers.org/clinvar/346778 ^@ NM_000158.3(GBE1):c.*466G>A http://identifiers.org/clinvar/343789 ^@ NM_000096.3(CP):c.151C>T (p.His51Tyr) http://identifiers.org/clinvar/343839 ^@ NM_005677.3(COLQ):c.*365A>T http://identifiers.org/clinvar/343639 ^@ NM_000935.2(PLOD2):c.*587G>A http://identifiers.org/clinvar/358184 ^@ NM_183050.3(BCKDHB):c.*559_*560delTT http://identifiers.org/clinvar/358234 ^@ NM_020320.4(RARS2):c.879-6T>C http://identifiers.org/clinvar/353805 ^@ NM_002203.3(ITGA2):c.*1356C>T http://identifiers.org/clinvar/358284 ^@ NM_003227.3(TFR2):c.2183C>T (p.Pro728Leu) http://identifiers.org/clinvar/353855 ^@ NM_002203.3(ITGA2):c.*3599_*3600insTATATAAACAACTTTGTAGGACTAT http://identifiers.org/clinvar/354205 ^@ NM_003719.3(PDE8B):c.*1011A>G http://identifiers.org/clinvar/358484 ^@ NM_006348.3(COG5):c.-281_-280delCT http://identifiers.org/clinvar/354005 ^@ NM_000082.3(ERCC8):c.*724C>G http://identifiers.org/clinvar/358584 ^@ NM_000108.4(DLD):c.*978T>C http://identifiers.org/clinvar/354155 ^@ NM_003719.3(PDE8B):c.858C>T (p.Ser286=) http://identifiers.org/clinvar/354255 ^@ NM_003664.4(AP3B1):c.-115G>A http://identifiers.org/clinvar/358834 ^@ NM_000230.2(LEP):c.*1260A>G http://identifiers.org/clinvar/354355 ^@ NM_002454.2(MTRR):c.689G>A (p.Arg230His) http://identifiers.org/clinvar/354405 ^@ NM_004385.4(VCAN):c.2315C>G (p.Ala772Gly) http://identifiers.org/clinvar/354455 ^@ NM_004385.4(VCAN):c.8090G>A (p.Arg2697His) http://identifiers.org/clinvar/359134 ^@ NM_001080413.3(NOBOX):c.1856C>T (p.Pro619Leu) http://identifiers.org/clinvar/359184 ^@ NM_014141.5(CNTNAP2):c.1733G>A (p.Cys578Tyr) http://identifiers.org/clinvar/359234 ^@ NM_014141.5(CNTNAP2):c.*2551A>T http://identifiers.org/clinvar/354705 ^@ NM_001491.2(GCNT2):c.517A>G (p.Arg173Gly) http://identifiers.org/clinvar/359484 ^@ NM_001101426.3(ISPD):c.*4023C>T http://identifiers.org/clinvar/363882 ^@ NM_019098.4(CNGB3):c.494-11dupT http://identifiers.org/clinvar/359934 ^@ NM_018947.5(CYCS):c.*537C>T http://identifiers.org/clinvar/364032 ^@ NM_001001557.3(GDF6):c.*268_*275delGTTTTCTCinsCTTT http://identifiers.org/clinvar/361123 ^@ NM_017890.4(VPS13B):c.*1783C>T http://identifiers.org/clinvar/364232 ^@ NM_014425.4(INVS):c.2489C>T (p.Thr830Ile) http://identifiers.org/clinvar/364382 ^@ NM_005502.3(ABCA1):c.6109T>A (p.Tyr2037Asn) http://identifiers.org/clinvar/364632 ^@ NM_000031.5(ALAD):c.*471C>T http://identifiers.org/clinvar/364682 ^@ NM_015404.3(WHRN):c.2248C>G (p.Leu750Val) http://identifiers.org/clinvar/364732 ^@ NM_012210.3(TRIM32):c.*811delG http://identifiers.org/clinvar/356245 ^@ NM_000063.5(C2):c.1023G>A (p.Ala341=) http://identifiers.org/clinvar/355945 ^@ NM_033071.3(SYNE1):c.603-9A>G http://identifiers.org/clinvar/355995 ^@ NM_004562.2(PRKN):c.*1470G>A http://identifiers.org/clinvar/360773 ^@ NM_001001547.2(CD36):c.*226A>G http://identifiers.org/clinvar/360823 ^@ NM_005751.4(AKAP9):c.3874T>C (p.Phe1292Leu) http://identifiers.org/clinvar/365182 ^@ NM_001130438.2(SPTAN1):c.7305C>T (p.Tyr2435=) http://identifiers.org/clinvar/356195 ^@ NM_000410.3(HFE):c.707C>T (p.Thr236Ile) http://identifiers.org/clinvar/365282 ^@ NM_007171.3(POMT1):c.1933G>A (p.Gly645Ser) http://identifiers.org/clinvar/356645 ^@ NM_005943.5(MOCS1):c.*485C>A http://identifiers.org/clinvar/365382 ^@ NM_015046.5(SETX):c.-107C>T http://identifiers.org/clinvar/361173 ^@ NM_015713.4(RRM2B):c.*74delA http://identifiers.org/clinvar/356745 ^@ NM_000322.4(PRPH2):c.*1565G>A http://identifiers.org/clinvar/356595 ^@ NM_005943.5(MOCS1):c.*2479G>A http://identifiers.org/clinvar/356845 ^@ NM_014780.4(CUL7):c.1780G>A (p.Ala594Thr) http://identifiers.org/clinvar/356895 ^@ NM_006502.2(POLH):c.-87delC http://identifiers.org/clinvar/365732 ^@ NM_000093.4(COL5A1):c.4955-13C>T http://identifiers.org/clinvar/356995 ^@ NM_006502.2(POLH):c.*4413_*4414dupGG http://identifiers.org/clinvar/356795 ^@ NM_000287.3(PEX6):c.1718C>T (p.Thr573Ile) http://identifiers.org/clinvar/357045 ^@ NM_020745.3(AARS2):c.*423G>A http://identifiers.org/clinvar/357095 ^@ NM_001024630.3(RUNX2):c.933G>A (p.Thr311=) http://identifiers.org/clinvar/356945 ^@ NM_006502.2(POLH):c.*1650G>A http://identifiers.org/clinvar/357245 ^@ NM_000255.3(MUT):c.*278A>G http://identifiers.org/clinvar/311112 ^@ NM_001846.3(COL4A2):c.862-5C>T http://identifiers.org/clinvar/367122 ^@ NM_004972.3(JAK2):c.489C>T (p.His163=) http://identifiers.org/clinvar/366622 ^@ NM_001497.3(B4GALT1):c.*1751G>A http://identifiers.org/clinvar/303174 ^@ NM_018400.3(SCN3B):c.*1257G>A http://identifiers.org/clinvar/311162 ^@ NM_001846.3(COL4A2):c.3455-14G>A http://identifiers.org/clinvar/366722 ^@ NM_007126.3(VCP):c.-53C>T http://identifiers.org/clinvar/303274 ^@ NM_022370.3(ROBO3):c.3780G>A (p.Arg1260=) http://identifiers.org/clinvar/367351 ^@ NM_033305.2(VPS13A):c.1061A>G (p.His354Arg) http://identifiers.org/clinvar/367401 ^@ NM_033305.2(VPS13A):c.6410A>G (p.Glu2137Gly) http://identifiers.org/clinvar/366922 ^@ NM_001042413.1(GLIS3):c.*2052C>A http://identifiers.org/clinvar/303524 ^@ NM_016952.4(CDON):c.94A>G (p.Thr32Ala) http://identifiers.org/clinvar/311712 ^@ NM_004795.3(KL):c.*32A>G http://identifiers.org/clinvar/367601 ^@ NM_000136.2(FANCC):c.*516T>G http://identifiers.org/clinvar/303824 ^@ NM_001909.4(CTSD):c.*403C>T http://identifiers.org/clinvar/367072 ^@ NM_004170.5(SLC1A1):c.*671_*672dupAT http://identifiers.org/clinvar/364082 ^@ NM_000380.3(XPA):c.*278T>C http://identifiers.org/clinvar/364132 ^@ NM_004612.3(TGFBR1):c.*2086T>G http://identifiers.org/clinvar/367451 ^@ NM_058179.3(PSAT1):c.43G>C (p.Ala15Pro) http://identifiers.org/clinvar/367501 ^@ NM_004560.3(ROR2):c.1720G>T (p.Val574Leu) http://identifiers.org/clinvar/364182 ^@ NM_004612.3(TGFBR1):c.*4300C>T http://identifiers.org/clinvar/298486 ^@ NM_021830.4(TWNK):c.-585T>G http://identifiers.org/clinvar/299225 ^@ NM_021980.4(OPTN):c.*218G>C http://identifiers.org/clinvar/299375 ^@ NM_001081.3(CUBN):c.9664-9T>G http://identifiers.org/clinvar/305063 ^@ NM_016464.4(TMEM138):c.327C>T (p.Ser109=) http://identifiers.org/clinvar/305115 ^@ NM_004183.3(BEST1):c.-121C>T http://identifiers.org/clinvar/299625 ^@ NM_178161.2(PTF1A):c.617G>T (p.Arg206Leu) http://identifiers.org/clinvar/305365 ^@ NM_032193.3(RNASEH2C):c.173-4C>G http://identifiers.org/clinvar/299825 ^@ NM_021252.4(RAB18):c.*254A>G http://identifiers.org/clinvar/305465 ^@ NM_024649.4(BBS1):c.1036G>A (p.Val346Ile) http://identifiers.org/clinvar/299425 ^@ NM_001081.3(CUBN):c.7352-7A>C http://identifiers.org/clinvar/300175 ^@ NM_033056.3(PCDH15):c.4892C>A (p.Ala1631Glu) http://identifiers.org/clinvar/305865 ^@ NM_002180.2(IGHMBP2):c.2975G>A (p.Gly992Glu) http://identifiers.org/clinvar/305915 ^@ NM_012309.4(SHANK2):c.576C>T (p.His192=) http://identifiers.org/clinvar/299775 ^@ NM_032844.4(MASTL):c.-346delG http://identifiers.org/clinvar/306065 ^@ NM_005472.4(KCNE3):c.*909C>T http://identifiers.org/clinvar/299875 ^@ NM_021252.4(RAB18):c.*3599dupC http://identifiers.org/clinvar/299925 ^@ NM_020975.4(RET):c.*1116T>C http://identifiers.org/clinvar/315511 ^@ NM_002420.5(TRPM1):c.2340T>C (p.Asn780=) http://identifiers.org/clinvar/299975 ^@ NM_002900.2(RBP3):c.1813G>C (p.Ala605Pro) http://identifiers.org/clinvar/315661 ^@ NM_005159.4(ACTC1):c.*1221A>T http://identifiers.org/clinvar/300025 ^@ NM_000124.3(ERCC6):c.*482C>A http://identifiers.org/clinvar/315761 ^@ NM_152594.2(SPRED1):c.*2570T>C http://identifiers.org/clinvar/311212 ^@ NM_001846.3(COL4A2):c.*663T>C http://identifiers.org/clinvar/309918 ^@ NM_005379.3(MYO1A):c.785G>A (p.Arg262Gln) http://identifiers.org/clinvar/329623 ^@ NM_025136.3(OPA3):c.*3496C>G http://identifiers.org/clinvar/310018 ^@ NM_001172696.1(TSFM):c.823C>T (p.Arg275Cys) http://identifiers.org/clinvar/329823 ^@ NM_002103.4(GYS1):c.556G>A (p.Val186Ile) http://identifiers.org/clinvar/311512 ^@ NM_014363.5(SACS):c.10443C>G (p.Leu3481=) http://identifiers.org/clinvar/311562 ^@ NM_014363.5(SACS):c.1463C>T (p.Pro488Leu) http://identifiers.org/clinvar/311662 ^@ NM_000059.3(BRCA2):c.3415A>C (p.Lys1139Gln) http://identifiers.org/clinvar/330173 ^@ NM_206828.3(NLRP7):c.1113G>A (p.Thr371=) http://identifiers.org/clinvar/311812 ^@ NM_001127217.2(SMAD9):c.*3751A>G http://identifiers.org/clinvar/311862 ^@ NM_001127217.2(SMAD9):c.*1038G>C http://identifiers.org/clinvar/311912 ^@ NM_001127217.2(SMAD9):c.-230G>A http://identifiers.org/clinvar/310557 ^@ NM_020661.3(AICDA):c.*1139A>G http://identifiers.org/clinvar/330523 ^@ NM_006702.4(PNPLA6):c.1477C>T (p.Arg493Cys) http://identifiers.org/clinvar/319142 ^@ NM_032444.2(SLX4):c.*98A>G http://identifiers.org/clinvar/310862 ^@ NM_004115.3(FGF14):c.*1664_*1666delCTC http://identifiers.org/clinvar/311062 ^@ NM_001845.5(COL4A1):c.1673C>T (p.Ala558Val) http://identifiers.org/clinvar/319643 ^@ NM_015272.4(RPGRIP1L):c.*262G>A http://identifiers.org/clinvar/311262 ^@ NM_000131.4(F7):c.*1475G>A http://identifiers.org/clinvar/319893 ^@ NM_000339.2(SLC12A3):c.741+8C>T http://identifiers.org/clinvar/311312 ^@ NM_021954.3(GJA3):c.*1083T>C http://identifiers.org/clinvar/319993 ^@ NM_000078.2(CETP):c.1168G>C (p.Ala390Pro) http://identifiers.org/clinvar/312851 ^@ NM_002471.3(MYH6):c.4359+10G>A http://identifiers.org/clinvar/311462 ^@ NM_002010.2(FGF9):c.*1877G>A http://identifiers.org/clinvar/320043 ^@ NM_001297.4(CNGB1):c.*611G>A http://identifiers.org/clinvar/320193 ^@ NM_001538.3(HSF4):c.*89G>T http://identifiers.org/clinvar/338860 ^@ NM_144773.3(PROKR2):c.390C>T (p.Ser130=) http://identifiers.org/clinvar/320393 ^@ NM_000353.2(TAT):c.*774G>A http://identifiers.org/clinvar/311762 ^@ NM_015087.4(SPG20):c.*285delG http://identifiers.org/clinvar/339110 ^@ NM_001001433.2(STX16):c.*2962C>T http://identifiers.org/clinvar/339160 ^@ NM_207034.2(EDN3):c.*1271A>G http://identifiers.org/clinvar/339210 ^@ NM_017671.4(FERMT1):c.1637T>G (p.Met546Arg) http://identifiers.org/clinvar/339310 ^@ NM_001853.3(COL9A3):c.2010C>T (p.Ala670=) http://identifiers.org/clinvar/321282 ^@ NM_003119.3(SPG7):c.1359G>A (p.Ala453=) http://identifiers.org/clinvar/321382 ^@ NM_002386.3(MC1R):c.-1263G>A http://identifiers.org/clinvar/321482 ^@ NM_000833.4(GRIN2A):c.*7483C>T http://identifiers.org/clinvar/321586 ^@ NM_000833.4(GRIN2A):c.*971C>A http://identifiers.org/clinvar/321736 ^@ NM_002470.3(MYH3):c.3535C>G (p.Leu1179Val) http://identifiers.org/clinvar/328284 ^@ NM_000528.3(MAN2B1):c.-19A>G http://identifiers.org/clinvar/367801 ^@ NM_001167.3(XIAP):c.*803G>T http://identifiers.org/clinvar/328634 ^@ NM_003721.3(RFXANK):c.-366C>A http://identifiers.org/clinvar/326984 ^@ NM_001080467.2(MYO5B):c.*666G>A http://identifiers.org/clinvar/328684 ^@ NM_001031726.3(C19orf12):c.*2373G>T http://identifiers.org/clinvar/327234 ^@ NM_001083962.1(TCF4):c.*4477A>C http://identifiers.org/clinvar/327634 ^@ NM_133459.3(CCBE1):c.*2673G>A http://identifiers.org/clinvar/329573 ^@ NM_025136.3(OPA3):c.*6072A>G http://identifiers.org/clinvar/327734 ^@ NM_003839.3(TNFRSF11A):c.954C>T (p.Tyr318=) http://identifiers.org/clinvar/368790 ^@ NM_024921.3(POF1B):c.619C>T (p.Pro207Ser) http://identifiers.org/clinvar/329773 ^@ NM_000554.5(CRX):c.*2821G>A http://identifiers.org/clinvar/329923 ^@ NM_024729.3(MYH14):c.2625C>T (p.Ala875=) http://identifiers.org/clinvar/329973 ^@ NM_030657.3(LIM2):c.374T>C (p.Ile125Thr) http://identifiers.org/clinvar/328084 ^@ NM_000527.4(LDLR):c.*1140G>A http://identifiers.org/clinvar/330023 ^@ NM_144687.3(NLRP12):c.2244-14C>T http://identifiers.org/clinvar/330223 ^@ NM_001256714.1(DNAAF3):c.-44C>T http://identifiers.org/clinvar/330423 ^@ NM_000208.3(INSR):c.*498_*499insTT http://identifiers.org/clinvar/330473 ^@ NM_000208.3(INSR):c.1098T>C (p.Ser366=) http://identifiers.org/clinvar/328784 ^@ NM_000285.3(PEPD):c.1385T>C (p.Ile462Thr) http://identifiers.org/clinvar/329673 ^@ NM_025136.3(OPA3):c.*545G>T http://identifiers.org/clinvar/329723 ^@ NM_000554.5(CRX):c.*767G>A http://identifiers.org/clinvar/339010 ^@ NM_004738.4(VAPB):c.*5769G>A http://identifiers.org/clinvar/329873 ^@ NM_017636.3(TRPM4):c.*12G>A http://identifiers.org/clinvar/330123 ^@ NM_024075.4(TSEN34):c.5T>C (p.Leu2Pro) http://identifiers.org/clinvar/339360 ^@ NM_025219.2(DNAJC5):c.*80A>G http://identifiers.org/clinvar/339560 ^@ NM_000933.3(PLCB4):c.1065-8A>G http://identifiers.org/clinvar/330373 ^@ NM_000208.3(INSR):c.*3009delG http://identifiers.org/clinvar/330573 ^@ NM_030957.3(ADAMTS10):c.*85dupG http://identifiers.org/clinvar/339810 ^@ NM_001754.4(RUNX1):c.*3345A>T http://identifiers.org/clinvar/340349 ^@ NM_001848.2(COL6A1):c.*648C>T http://identifiers.org/clinvar/340399 ^@ NM_001849.3(COL6A2):c.*119A>G http://identifiers.org/clinvar/340550 ^@ NM_006031.5(PCNT):c.*307A>G http://identifiers.org/clinvar/340650 ^@ NM_014339.6(IL17RA):c.*2141C>T http://identifiers.org/clinvar/338910 ^@ NM_002591.3(PCK1):c.*390_*393delTGTG http://identifiers.org/clinvar/338960 ^@ NM_004738.4(VAPB):c.*2671A>G http://identifiers.org/clinvar/341050 ^@ NM_001887.3(CRYBB1):c.37G>A (p.Val13Met) http://identifiers.org/clinvar/339060 ^@ NM_001001433.2(STX16):c.*70G>A http://identifiers.org/clinvar/341100 ^@ NM_000268.3(NF2):c.*1111G>T http://identifiers.org/clinvar/341250 ^@ NM_000343.3(SLC5A1):c.1130-9C>T http://identifiers.org/clinvar/341300 ^@ NM_012179.3(FBXO7):c.-200G>A http://identifiers.org/clinvar/339510 ^@ NM_015192.3(PLCB1):c.2387A>G (p.Lys796Arg) http://identifiers.org/clinvar/339660 ^@ NM_000454.4(SOD1):c.-109A>G http://identifiers.org/clinvar/339710 ^@ NM_000628.4(IL10RB):c.*761C>T http://identifiers.org/clinvar/341750 ^@ NM_022098.3(XPNPEP3):c.*4990A>G http://identifiers.org/clinvar/339910 ^@ NM_000411.6(HLCS):c.*3226dupT http://identifiers.org/clinvar/390080 ^@ NM_203447.3(DOCK8):c.1587C>G (p.Pro529=) http://identifiers.org/clinvar/386441 ^@ NM_005097.3(LGI1):c.1164C>T (p.Val388=) http://identifiers.org/clinvar/387691 ^@ NM_001080463.1(DYNC2H1):c.12460C>T (p.Arg4154Cys) http://identifiers.org/clinvar/385052 ^@ NM_020822.2(KCNT1):c.2350-8G>A http://identifiers.org/clinvar/381808 ^@ NM_203447.3(DOCK8):c.963T>A (p.Pro321=) http://identifiers.org/clinvar/383049 ^@ NM_000535.6(PMS2):c.904-20A>G http://identifiers.org/clinvar/392779 ^@ NM_000722.3(CACNA2D1):c.1740T>C (p.Tyr580=) http://identifiers.org/clinvar/381307 ^@ NM_000264.3(PTCH1):c.945+20G>A http://identifiers.org/clinvar/387891 ^@ NM_001908.4(CTSB):c.533-10G>A http://identifiers.org/clinvar/389380 ^@ NM_001916.4(CYC1):c.873+7G>A http://identifiers.org/clinvar/383350 ^@ NM_024531.4(SLC52A2):c.1245C>T (p.Gly415=) http://identifiers.org/clinvar/386491 ^@ NM_000051.3(ATM):c.2639-7T>C http://identifiers.org/clinvar/388141 ^@ NM_000431.3(MVK):c.700C>T (p.Leu234=) http://identifiers.org/clinvar/377565 ^@ NM_004329.2(BMPR1A):c.-8A>G http://identifiers.org/clinvar/379414 ^@ NM_006904.6(PRKDC):c.8578-18G>T http://identifiers.org/clinvar/393229 ^@ NM_005097.3(LGI1):c.1413G>A (p.Met471Ile) http://identifiers.org/clinvar/386541 ^@ NM_001079802.1(FKTN):c.1248C>T (p.Leu416=) http://identifiers.org/clinvar/388291 ^@ NM_000051.3(ATM):c.7107A>C (p.Gly2369=) http://identifiers.org/clinvar/383250 ^@ NM_138361.5(LRSAM1):c.175-19C>G http://identifiers.org/clinvar/383511 ^@ NM_000118.3(ENG):c.1465C>T (p.Gln489Ter) http://identifiers.org/clinvar/379564 ^@ NM_020297.3(ABCC9):c.*19T>C http://identifiers.org/clinvar/377615 ^@ NM_000719.6(CACNA1C):c.5680+11C>A http://identifiers.org/clinvar/389630 ^@ NM_003476.4(CSRP3):c.252G>A (p.Thr84=) http://identifiers.org/clinvar/386991 ^@ NM_007171.3(POMT1):c.111G>C (p.Pro37=) http://identifiers.org/clinvar/388880 ^@ NM_007103.3(NDUFV1):c.1269G>A (p.Thr423=) http://identifiers.org/clinvar/384852 ^@ NM_001876.3(CPT1A):c.771+13G>A http://identifiers.org/clinvar/389330 ^@ NM_000093.4(COL5A1):c.3114+10T>C http://identifiers.org/clinvar/381657 ^@ NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) http://identifiers.org/clinvar/389030 ^@ NM_006231.3(POLE):c.5988C>T (p.Phe1996=) http://identifiers.org/clinvar/387941 ^@ NM_000059.3(BRCA2):c.1836A>G (p.Glu612=) http://identifiers.org/clinvar/382309 ^@ NM_006231.3(POLE):c.1359+19G>A http://identifiers.org/clinvar/380957 ^@ NM_014844.4(TECPR2):c.2050C>G (p.Leu684Val) http://identifiers.org/clinvar/381958 ^@ NM_203447.3(DOCK8):c.393C>T (p.Ile131=) http://identifiers.org/clinvar/378562 ^@ NM_014191.3(SCN8A):c.5391C>T (p.Pro1797=) http://identifiers.org/clinvar/387191 ^@ NM_001134363.2(RBM20):c.3574-19T>C http://identifiers.org/clinvar/382108 ^@ NM_016417.2(GLRX5):c.*5G>A http://identifiers.org/clinvar/379214 ^@ NM_006393.2(NEBL):c.1775C>T (p.Ala592Val) http://identifiers.org/clinvar/381707 ^@ NM_014191.3(SCN8A):c.4969C>T (p.Leu1657=) http://identifiers.org/clinvar/389980 ^@ NM_001080463.1(DYNC2H1):c.6057A>G (p.Leu2019=) http://identifiers.org/clinvar/389880 ^@ NM_000051.3(ATM):c.901+7A>G http://identifiers.org/clinvar/382949 ^@ NM_000059.3(BRCA2):c.6195A>G (p.Gln2065=) http://identifiers.org/clinvar/385302 ^@ NM_000051.3(ATM):c.3402+9A>G http://identifiers.org/clinvar/385352 ^@ NM_000051.3(ATM):c.4704T>C (p.His1568=) http://identifiers.org/clinvar/377515 ^@ NM_000051.3(ATM):c.5005+14A>T http://identifiers.org/clinvar/386891 ^@ NM_198525.2(KIF7):c.3828C>T (p.Thr1276=) http://identifiers.org/clinvar/379364 ^@ NM_021098.2(CACNA1H):c.2650C>T (p.Arg884Cys) http://identifiers.org/clinvar/378206 ^@ NM_002474.2(MYH11):c.4578+19T>C http://identifiers.org/clinvar/377414 ^@ NM_001171.5(ABCC6):c.2904G>A (p.Leu968=) http://identifiers.org/clinvar/389430 ^@ NM_000548.4(TSC2):c.831C>T (p.Cys277=) http://identifiers.org/clinvar/392879 ^@ NM_207122.1(EXT2):c.1023G>A (p.Pro341=) http://identifiers.org/clinvar/393279 ^@ NM_001079668.2(NKX2-1):c.728G>A (p.Arg243His) http://identifiers.org/clinvar/388091 ^@ NM_015915.4(ATL1):c.1173C>G (p.His391Gln) http://identifiers.org/clinvar/379064 ^@ NM_002693.2(POLG):c.1586-5C>T http://identifiers.org/clinvar/385502 ^@ NM_001271.3(CHD2):c.2337A>G (p.Gly779=) http://identifiers.org/clinvar/389780 ^@ NM_016373.3(WWOX):c.324C>T (p.Asp108=) http://identifiers.org/clinvar/388980 ^@ NM_000138.4(FBN1):c.306C>A (p.Cys102Ter) http://identifiers.org/clinvar/381507 ^@ NM_002755.3(MAP2K1):c.1023-17G>C http://identifiers.org/clinvar/390230 ^@ NM_020778.4(ALPK3):c.3333C>T (p.Ala1111=) http://identifiers.org/clinvar/389080 ^@ NM_006231.3(POLE):c.1737C>T (p.Arg579=) http://identifiers.org/clinvar/47467 ^@ TTN:c.87669T>C (p.His29223=) http://identifiers.org/clinvar/47517 ^@ NM_001256850.1(TTN):c.87014A>G (p.Asn29005Ser) http://identifiers.org/clinvar/47567 ^@ NM_133378.4(TTN):c.88530C>T (p.Tyr29510=) http://identifiers.org/clinvar/47617 ^@ NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) http://identifiers.org/clinvar/48308 ^@ NM_198056.2(SCN5A):c.5494C>G (p.Gln1832Glu) http://identifiers.org/clinvar/48359 ^@ NM_206933.2(USH2A):c.10836C>A (p.Val3612=) http://identifiers.org/clinvar/48409 ^@ NM_206933.2(USH2A):c.12874A>G (p.Asn4292Asp) http://identifiers.org/clinvar/48459 ^@ NM_206933.2(USH2A):c.15297+3A>G http://identifiers.org/clinvar/48510 ^@ NM_206933.2(USH2A):c.3945T>C (p.Asn1315=) http://identifiers.org/clinvar/129 ^@ NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) http://identifiers.org/clinvar/138 ^@ NM_001128228.2(TPRN):c.1530delG (p.Thr511Leufs) http://identifiers.org/clinvar/225 ^@ NM_000027.3(AGA):c.800dupT (p.Pro268Alafs) http://identifiers.org/clinvar/321 ^@ NM_012338.3(TSPAN12):c.212_218dupGCTGTTT (p.Phe73Leufs) http://identifiers.org/clinvar/400 ^@ NM_019892.5(INPP5E):c.1132C>T (p.Arg378Cys) http://identifiers.org/clinvar/432 ^@ NM_000110.3(DPYD):c.1905+1G>A http://identifiers.org/clinvar/901 ^@ NM_000181.3(GUSB):c.1616_1653del38 (p.Ser539Argfs*8) http://identifiers.org/clinvar/929 ^@ NM_000404.3(GLB1):c.947A>G (p.Tyr316Cys) http://identifiers.org/clinvar/1194 ^@ NM_001029871.3(RSPO4):c.98dupG (p.Asn34Glnfs) http://identifiers.org/clinvar/1239 ^@ LAMTOR2, IVS4DS, C-A, +23, 3-PRIME UTR http://identifiers.org/clinvar/1334 ^@ CEP290, 1-BP DEL, 4656A http://identifiers.org/clinvar/1425 ^@ NM_015506.2(MMACHC):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/1470 ^@ HMBS, 8-BP INS http://identifiers.org/clinvar/1516 ^@ PKLR, 1318G-T http://identifiers.org/clinvar/1561 ^@ NM_000263.3(NAGLU):c.1876C>T (p.Arg626Ter) http://identifiers.org/clinvar/1606 ^@ NM_016417.2(GLRX5):c.294A>G (p.Gln98=) http://identifiers.org/clinvar/1656 ^@ TOPORS, 1-BP INS, 2474A http://identifiers.org/clinvar/1700 ^@ NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter) http://identifiers.org/clinvar/1748 ^@ GIF, 1-BP INS, 1175T http://identifiers.org/clinvar/1798 ^@ NM_000102.3(CYP17A1):c.985T>G (p.Tyr329Asp) http://identifiers.org/clinvar/1842 ^@ MRAP, 1-BP DEL, 128G http://identifiers.org/clinvar/1888 ^@ NM_000255.3(MUT):c.643G>A (p.Gly215Ser) http://identifiers.org/clinvar/1932 ^@ NM_020166.4(MCCC1):c.1310T>C (p.Leu437Pro) http://identifiers.org/clinvar/1978 ^@ ADA, IVS5DS, G-A, +1 http://identifiers.org/clinvar/2021 ^@ SLC6A19, IVS7, G-A, -4 http://identifiers.org/clinvar/2112 ^@ NM_003477.2(PDHX):c.965_1023del59 (p.Asp322Alafs) http://identifiers.org/clinvar/2158 ^@ NM_017929.5(PEX26):c.254dupT (p.Cys86Valfs) http://identifiers.org/clinvar/2204 ^@ NM_018668.4(VPS33B):c.700+1G>A http://identifiers.org/clinvar/2295 ^@ NM_015046.5(SETX):c.5929C>T (p.Leu1977Phe) http://identifiers.org/clinvar/2970 ^@ NM_000271.4(NPC1):c.1133T>C (p.Val378Ala) http://identifiers.org/clinvar/3015 ^@ NM_176824.2(BBS7):c.968A>G (p.His323Arg) http://identifiers.org/clinvar/3065 ^@ ARSA, 1-BP DEL, 297C http://identifiers.org/clinvar/3112 ^@ KCNQ1, 3-BP DEL http://identifiers.org/clinvar/3164 ^@ NM_173353.3(TPH2):c.616C>T (p.Pro206Ser) http://identifiers.org/clinvar/3259 ^@ NM_000529.2(MC2R):c.601C>T (p.Arg201Ter) http://identifiers.org/clinvar/10148 ^@ NM_000132.3(F8):c.5372T>C (p.Met1791Thr) http://identifiers.org/clinvar/10519 ^@ NM_000273.2(GPR143):c.397T>A (p.Trp133Arg) http://identifiers.org/clinvar/10564 ^@ F9, ARG-4TRP http://identifiers.org/clinvar/12033 ^@ NM_000892.4(KLKB1):c.337C>T (p.Arg113Ter) http://identifiers.org/clinvar/12083 ^@ F7, -55C-T http://identifiers.org/clinvar/12133 ^@ NM_000387.5(SLC25A20):c.199_326del128 (p.Gly67Leufs) http://identifiers.org/clinvar/12186 ^@ NM_001166120.1(HSD3B2):c.742_743delGTinsAA (p.Val248Asn) http://identifiers.org/clinvar/12239 ^@ NM_004360.4(CDH1):c.59G>A (p.Trp20Ter) http://identifiers.org/clinvar/12544 ^@ NM_001128177.1(THRB):c.1034G>A (p.Gly345Asp) http://identifiers.org/clinvar/12595 ^@ NM_004985.4(KRAS):c.468C>G (p.Phe156Leu) http://identifiers.org/clinvar/12645 ^@ NM_000458.3(HNF1B):c.443C>G (p.Ser148Trp) http://identifiers.org/clinvar/12696 ^@ NM_003235.4(TG):c.5995C>T (p.Arg1999Trp) http://identifiers.org/clinvar/12747 ^@ NM_000732.4(CD3D):c.202C>T (p.Arg68Ter) http://identifiers.org/clinvar/12797 ^@ NR5A1, 8-BP DEL, NT1058 http://identifiers.org/clinvar/242792 ^@ NM_004959.4(NR5A1):c.368G>C (p.Gly123Ala) http://identifiers.org/clinvar/12847 ^@ NM_003126.2(SPTA1):c.460_462dupTTG (p.Leu154dup) http://identifiers.org/clinvar/12898 ^@ SCN1A, 1-BP DEL, 2528G http://identifiers.org/clinvar/12948 ^@ NM_003035.2(STIL):c.3715C>T (p.Gln1239Ter) http://identifiers.org/clinvar/12999 ^@ NM_001021.4(RPS17):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/13050 ^@ NM_000539.3(RHO):c.511C>T (p.Pro171Ser) http://identifiers.org/clinvar/13101 ^@ NM_000326.4(RLBP1):c.677T>A (p.Met226Lys) http://identifiers.org/clinvar/13151 ^@ RAG1, 2-BP DEL, 368AA http://identifiers.org/clinvar/13203 ^@ SFTPB, 1-BP DEL, 457C http://identifiers.org/clinvar/13253 ^@ NM_001079.3(ZAP70):c.1624-11G>A http://identifiers.org/clinvar/13305 ^@ NM_000506.3(F2):c.1273C>T (p.Arg425Cys) http://identifiers.org/clinvar/13355 ^@ NM_001035256.2(POMC):c.-11C>A http://identifiers.org/clinvar/13409 ^@ NM_000311.4(PRNP):c.655G>A (p.Glu219Lys) http://identifiers.org/clinvar/13460 ^@ NM_000371.3(TTR):c.424_426delGTC (p.Val142del) http://identifiers.org/clinvar/13511 ^@ POLG, TRP1020TER http://identifiers.org/clinvar/36686 ^@ NM_000535.6(PMS2):c.1621A= (p.Lys541=) http://identifiers.org/clinvar/36739 ^@ NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) http://identifiers.org/clinvar/36790 ^@ NM_139276.2(STAT3):c.1970A>G (p.Tyr657Cys) http://identifiers.org/clinvar/36840 ^@ NM_000458.3(HNF1B):c.140C>T (p.Pro47Leu) http://identifiers.org/clinvar/36891 ^@ NM_000371.3(TTR):c.336+19G>A http://identifiers.org/clinvar/36960 ^@ NM_002501.3(NFIX):c.1049dupC (p.Leu351Alafs) http://identifiers.org/clinvar/37059 ^@ NM_015631.5(TCTN3):c.566_567delAG (p.Glu189Valfs) http://identifiers.org/clinvar/37129 ^@ NM_004984.2(KIF5A):c.611G>A (p.Arg204Gln) http://identifiers.org/clinvar/37261 ^@ NM_003036.3(SKI):c.100G>A (p.Gly34Ser) http://identifiers.org/clinvar/37351 ^@ NM_000155.3(GALT):c.676C>G (p.Leu226Val) http://identifiers.org/clinvar/37416 ^@ NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) http://identifiers.org/clinvar/37468 ^@ NM_007294.3(BRCA1):c.2426A>G (p.Glu809Gly) http://identifiers.org/clinvar/37526 ^@ NM_007294.3(BRCA1):c.3358_3359delGT (p.Val1120Terfs) http://identifiers.org/clinvar/37579 ^@ NM_007294.3(BRCA1):c.4251_4252delGT (p.Leu1418Argfs) http://identifiers.org/clinvar/37631 ^@ NM_007294.3(BRCA1):c.5074+2T>C http://identifiers.org/clinvar/37685 ^@ NM_007294.3(BRCA1):c.593+9A>G http://identifiers.org/clinvar/37739 ^@ NM_000059.3(BRCA2):c.1427C>G (p.Ser476Cys) http://identifiers.org/clinvar/37791 ^@ NM_000059.3(BRCA2):c.2572A>G (p.Arg858Gly) http://identifiers.org/clinvar/37844 ^@ NM_000059.3(BRCA2):c.3509C>T (p.Ala1170Val) http://identifiers.org/clinvar/37896 ^@ NM_000059.3(BRCA2):c.4349T>C (p.Phe1450Ser) http://identifiers.org/clinvar/37950 ^@ NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) http://identifiers.org/clinvar/38002 ^@ NM_000059.3(BRCA2):c.5855T>A (p.Leu1952Ter) http://identifiers.org/clinvar/38054 ^@ NM_000059.3(BRCA2):c.6567C>G (p.Asn2189Lys) http://identifiers.org/clinvar/38107 ^@ NM_000059.3(BRCA2):c.7594C>T (p.Pro2532Ser) http://identifiers.org/clinvar/39131 ^@ NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val) http://identifiers.org/clinvar/39181 ^@ NM_198578.3(LRRK2):c.4269G>A (p.Lys1423=) http://identifiers.org/clinvar/39231 ^@ NM_198578.3(LRRK2):c.683G>C (p.Cys228Ser) http://identifiers.org/clinvar/39282 ^@ NR_001566.1(TERC):n.143G>A http://identifiers.org/clinvar/39444 ^@ NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln) http://identifiers.org/clinvar/39496 ^@ NM_001313726.1(ANO3):c.1663A>T (p.Arg555Trp) http://identifiers.org/clinvar/39546 ^@ NM_001139.2(ALOX12B):c.1562A>G (p.Tyr521Cys) http://identifiers.org/clinvar/39596 ^@ NM_020822.2(KCNT1):c.2280C>G (p.Ile760Met) http://identifiers.org/clinvar/39700 ^@ NM_001256071.2(RNF213):c.14429G>A (p.Arg4810Lys) http://identifiers.org/clinvar/39750 ^@ ANO5, IVS14DS, G-A, +5 http://identifiers.org/clinvar/39801 ^@ NM_033109.4(PNPT1):c.1160A>G (p.Gln387Arg) http://identifiers.org/clinvar/39852 ^@ NM_001170961.1(IGSF1):c.2588C>T (p.Ser863Phe) http://identifiers.org/clinvar/40007 ^@ NM_012275.2(IL36RN):c.28C>T (p.Arg10Ter) http://identifiers.org/clinvar/40178 ^@ NM_003907.2(EIF2B5):c.808G>C (p.Asp270His) http://identifiers.org/clinvar/40289 ^@ NM_002335.3(LRP5):c.731C>T (p.Thr244Met) http://identifiers.org/clinvar/40394 ^@ NM_004333.4(BRAF):c.1992+16G>A http://identifiers.org/clinvar/40467 ^@ NM_004985.4(KRAS):c.*177T>G http://identifiers.org/clinvar/40525 ^@ NM_002834.4(PTPN11):c.844A>G (p.Ile282Val) http://identifiers.org/clinvar/40587 ^@ NM_002880.3(RAF1):c.208-17T>C http://identifiers.org/clinvar/40649 ^@ NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) http://identifiers.org/clinvar/40739 ^@ NM_002755.3(MAP2K1):c.6C>T (p.Pro2=) http://identifiers.org/clinvar/40834 ^@ NM_030662.3(MAP2K2):c.919+4C>T http://identifiers.org/clinvar/41011 ^@ NM_000485.2(APRT):c.297C>T (p.Ala99=) http://identifiers.org/clinvar/41067 ^@ NM_003611.2(OFD1):c.1220_1221+1delAGG http://identifiers.org/clinvar/41124 ^@ NM_003611.2(OFD1):c.43_44delAG (p.Gln16Argfs) http://identifiers.org/clinvar/41176 ^@ NM_003977.3(AIP):c.383G>A (p.Arg128His) http://identifiers.org/clinvar/41234 ^@ NM_005572.3(LMNA):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/51136 ^@ NM_000059.3(BRCA2):c.1511_1512delCT (p.Ser504Tyrfs) http://identifiers.org/clinvar/51187 ^@ NM_000059.3(BRCA2):c.1763_1766delATAA (p.Asn588Serfs) http://identifiers.org/clinvar/51239 ^@ NM_000059.3(BRCA2):c.204delA (p.Lys68Asnfs) http://identifiers.org/clinvar/51290 ^@ NM_000059.3(BRCA2):c.2455C>T (p.Gln819Ter) http://identifiers.org/clinvar/51341 ^@ NM_000059.3(BRCA2):c.2773dupT (p.Ser925Phefs) http://identifiers.org/clinvar/51391 ^@ NM_000059.3(BRCA2):c.3068dupA (p.Asn1023Lysfs) http://identifiers.org/clinvar/51442 ^@ NM_000059.3(BRCA2):c.3273_3276delATTT (p.Leu1091Phefs) http://identifiers.org/clinvar/51493 ^@ NM_000059.3(BRCA2):c.3599_3600delGT (p.Cys1200Terfs) http://identifiers.org/clinvar/51544 ^@ NM_000059.3(BRCA2):c.3860_3863delATAA (p.Asn1287Ilefs) http://identifiers.org/clinvar/51596 ^@ NM_000059.3(BRCA2):c.4101delA (p.Lys1367Asnfs) http://identifiers.org/clinvar/51648 ^@ NM_000059.3(BRCA2):c.4436G>C (p.Ser1479Thr) http://identifiers.org/clinvar/51699 ^@ NM_000059.3(BRCA2):c.4703A>G (p.Lys1568Arg) http://identifiers.org/clinvar/51750 ^@ NM_000059.3(BRCA2):c.4965C>A (p.Tyr1655Ter) http://identifiers.org/clinvar/51802 ^@ NM_000059.3(BRCA2):c.517-4C>G http://identifiers.org/clinvar/52267 ^@ NM_000059.3(BRCA2):c.7092delA (p.Glu2364Aspfs) http://identifiers.org/clinvar/52318 ^@ NM_000059.3(BRCA2):c.73G>A (p.Gly25Arg) http://identifiers.org/clinvar/55154 ^@ NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) http://identifiers.org/clinvar/55205 ^@ NM_007294.3(BRCA1):c.4457delG (p.Ser1486Ilefs) http://identifiers.org/clinvar/55255 ^@ NM_007294.3(BRCA1):c.4669G>C (p.Asp1557His) http://identifiers.org/clinvar/55306 ^@ NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) http://identifiers.org/clinvar/55356 ^@ NM_007294.3(BRCA1):c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs) http://identifiers.org/clinvar/55406 ^@ NM_007294.3(BRCA1):c.5117G>C (p.Gly1706Ala) http://identifiers.org/clinvar/55456 ^@ NM_007294.3(BRCA1):c.5207T>G (p.Val1736Gly) http://identifiers.org/clinvar/55508 ^@ NM_007294.3(BRCA1):c.5289delG (p.Leu1764Terfs) http://identifiers.org/clinvar/55559 ^@ NM_007294.3(BRCA1):c.53T>A (p.Met18Lys) http://identifiers.org/clinvar/55609 ^@ NM_007294.3(BRCA1):c.5511G>A (p.Trp1837Ter) http://identifiers.org/clinvar/55660 ^@ NM_007294.3(BRCA1):c.66_67insC (p.Glu23Argfs) http://identifiers.org/clinvar/55763 ^@ NM_007294.3(BRCA1):c.949_953delCAACA (p.Gln317Terfs) http://identifiers.org/clinvar/132994 ^@ NM_000540.2(RYR1):c.10348-6C>G http://identifiers.org/clinvar/56372 ^@ NM_001126105.2(SLC7A7):c.571A>G (p.Lys191Glu) http://identifiers.org/clinvar/56424 ^@ NM_004646.3(NPHS1):c.1103C>T (p.Pro368Leu) http://identifiers.org/clinvar/56474 ^@ NM_004646.3(NPHS1):c.2442C>G (p.Tyr814Ter) http://identifiers.org/clinvar/56524 ^@ NM_004646.3(NPHS1):c.886G>A (p.Ala296Thr) http://identifiers.org/clinvar/56577 ^@ NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) http://identifiers.org/clinvar/56633 ^@ NM_017890.4(VPS13B):c.11169_11172dupGGAC (p.Arg3725Glyfs) http://identifiers.org/clinvar/56683 ^@ NM_017890.4(VPS13B):c.6732+1G>A http://identifiers.org/clinvar/56733 ^@ NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) http://identifiers.org/clinvar/56784 ^@ NM_153704.5(TMEM67):c.579delA (p.Gly195Aspfs) http://identifiers.org/clinvar/56989 ^@ GRCh38/hg38 10q25.1(chr10:108680957-109329708)x1 http://identifiers.org/clinvar/57045 ^@ GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 http://identifiers.org/clinvar/57098 ^@ GRCh38/hg38 12p11.22(chr12:29539481-30093276)x3 http://identifiers.org/clinvar/57153 ^@ GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1 http://identifiers.org/clinvar/57203 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 http://identifiers.org/clinvar/57257 ^@ GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1 http://identifiers.org/clinvar/57310 ^@ GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 http://identifiers.org/clinvar/57363 ^@ GRCh38/hg38 Xp22.31(chrX:7917055-8588267)x3 http://identifiers.org/clinvar/101181 ^@ NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp) http://identifiers.org/clinvar/101231 ^@ NM_000090.3(COL3A1):c.3061_3063delCTT (p.Leu1021del) http://identifiers.org/clinvar/101281 ^@ NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu) http://identifiers.org/clinvar/101331 ^@ NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu) http://identifiers.org/clinvar/101381 ^@ NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu) http://identifiers.org/clinvar/101431 ^@ NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg) http://identifiers.org/clinvar/101481 ^@ NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193Glyfs) http://identifiers.org/clinvar/102436 ^@ NM_001040436.2(YARS2):c.1303A>G (p.Ser435Gly) http://identifiers.org/clinvar/102494 ^@ NM_000277.1(PAH):c.1048T>A (p.Ser350Thr) http://identifiers.org/clinvar/102551 ^@ NM_000277.1(PAH):c.1196_1199delTAAG (p.Val399Glyfs) http://identifiers.org/clinvar/102603 ^@ NM_000277.1(PAH):c.163_165delTTT (p.Phe55del) http://identifiers.org/clinvar/102658 ^@ NM_000277.1(PAH):c.368G>T (p.Arg123Ile) http://identifiers.org/clinvar/102709 ^@ NM_000277.1(PAH):c.509+54C>G http://identifiers.org/clinvar/102759 ^@ NM_000277.1(PAH):c.613G>A (p.Glu205Lys) http://identifiers.org/clinvar/102810 ^@ NM_000277.1(PAH):c.733G>C (p.Val245Leu) http://identifiers.org/clinvar/102860 ^@ NM_000277.1(PAH):c.830A>G (p.Tyr277Cys) http://identifiers.org/clinvar/102912 ^@ NM_000277.1(PAH):c.964G>A (p.Ala322Thr) http://identifiers.org/clinvar/102970 ^@ NM_022162.2(NOD2):c.-375C>A http://identifiers.org/clinvar/103120 ^@ NM_022162.2(NOD2):c.2418C>G (p.Gly806=) http://identifiers.org/clinvar/103170 ^@ NM_032206.4(NLRC5):c.2947C>G (p.His983Asp) http://identifiers.org/clinvar/103220 ^@ NM_134444.4(NLRP4):c.2019-215T>C http://identifiers.org/clinvar/103270 ^@ NM_145007.3(NLRP11):c.1841+73A>G http://identifiers.org/clinvar/103320 ^@ NM_176810.2(NLRP13):c.470C>T (p.Ala157Val) http://identifiers.org/clinvar/103370 ^@ NM_178844.3(NLRC3):c.2526A>G (p.Arg842=) http://identifiers.org/clinvar/111244 ^@ NM_005534.3(IFNGR2):c.413-80_413-79dupTA http://identifiers.org/clinvar/126199 ^@ NM_000059.3(BRCA2):c.9082G>C (p.Ala3028Pro) http://identifiers.org/clinvar/126258 ^@ NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) http://identifiers.org/clinvar/126308 ^@ NM_153704.5(TMEM67):c.870-29A>G http://identifiers.org/clinvar/126359 ^@ NM_001128849.1(SMARCA4):c.1524T>C (p.His508=) http://identifiers.org/clinvar/126416 ^@ NM_001243197.1(IQSEC2):c.123-2226_*20117dup http://identifiers.org/clinvar/126483 ^@ NM_021625.4(TRPV4):c.819C>G (p.Phe273Leu) http://identifiers.org/clinvar/126570 ^@ NM_024675.3(PALB2):c.-145G>C http://identifiers.org/clinvar/126620 ^@ NM_024675.3(PALB2):c.1685-58C>A http://identifiers.org/clinvar/126672 ^@ NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) http://identifiers.org/clinvar/126722 ^@ NM_024675.3(PALB2):c.3201+96G>A http://identifiers.org/clinvar/126773 ^@ NM_024675.3(PALB2):c.832C>G (p.Leu278Val) http://identifiers.org/clinvar/126824 ^@ NM_000321.2(RB1):c.958C>T (p.Arg320Ter) http://identifiers.org/clinvar/126877 ^@ NM_000610.3(CD44):c.923-767T>A http://identifiers.org/clinvar/126933 ^@ NM_001127464.2(ZNF469):c.9047C>T (p.Thr3016Met) http://identifiers.org/clinvar/126983 ^@ NM_000251.2(MSH2):c.*392G>A http://identifiers.org/clinvar/127033 ^@ NM_005591.3(MRE11):c.1098+131A>C http://identifiers.org/clinvar/127089 ^@ NM_001739.1(CA5A):c.619-3421_774+502del (p.Asp207_Gln258del) http://identifiers.org/clinvar/127157 ^@ NM_025132.3(WDR19):c.3703G>A (p.Glu1235Lys) http://identifiers.org/clinvar/127256 ^@ NM_001127255.1(NLRP7):c.1148C>T (p.Pro383Leu) http://identifiers.org/clinvar/127307 ^@ NM_000038.5(APC):c.5635G>T (p.Ala1879Ser) http://identifiers.org/clinvar/127357 ^@ NM_000051.3(ATM):c.2638+2T>C http://identifiers.org/clinvar/127407 ^@ NM_000051.3(ATM):c.5353C>G (p.Pro1785Ala) http://identifiers.org/clinvar/127457 ^@ NM_000051.3(ATM):c.8261C>T (p.Thr2754Ile) http://identifiers.org/clinvar/127508 ^@ NM_000057.3(BLM):c.403G>T (p.Ala135Ser) http://identifiers.org/clinvar/127558 ^@ NM_000179.2(MSH6):c.1241G>A (p.Trp414Ter) http://identifiers.org/clinvar/127608 ^@ NM_000249.3(MLH1):c.1136A>T (p.Tyr379Phe) http://identifiers.org/clinvar/161784 ^@ NM_032807.4(FBXO18):c.2260C>T (p.Arg754Trp) http://identifiers.org/clinvar/161734 ^@ NM_020657.3(ZNF304):c.1400T>A (p.Ile467Lys) http://identifiers.org/clinvar/161834 ^@ NM_175709.4(CBX7):c.227C>G (p.Pro76Arg) http://identifiers.org/clinvar/161998 ^@ NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) http://identifiers.org/clinvar/162065 ^@ NM_001164405.1(BHLHA9):c.211A>G (p.Asn71Asp) http://identifiers.org/clinvar/162124 ^@ NM_005211.3(CSF1R):c.2717T>C (p.Ile906Thr) http://identifiers.org/clinvar/162188 ^@ NM_001130823.2(DNMT1):c.1531T>C (p.Tyr511His) http://identifiers.org/clinvar/162395 ^@ NM_052874.4(STX1B):c.166C>T (p.Gln56Ter) http://identifiers.org/clinvar/162476 ^@ NM_004208.3(AIFM1):c.860T>C (p.Ile287Thr) http://identifiers.org/clinvar/189522 ^@ NM_000314.4(PTEN):c.-1242G>A http://identifiers.org/clinvar/162534 ^@ NM_001849.3(COL6A2):c.1465C>T (p.Arg489Trp) http://identifiers.org/clinvar/162617 ^@ NM_005670.3(EPM2A):c.136G>C (p.Ala46Pro) http://identifiers.org/clinvar/179903 ^@ NM_001035.2(RYR2):c.308A>C (p.Lys103Thr) http://identifiers.org/clinvar/179453 ^@ NM_013296.4(GPSM2):c.186C>T (p.Ser62=) http://identifiers.org/clinvar/179003 ^@ NM_144573.3(NEXN):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/178903 ^@ NM_133378.4(TTN):c.89784C>T (p.Ser29928=) http://identifiers.org/clinvar/179753 ^@ NM_133378.4(TTN):c.80452A>T (p.Ser26818Cys) http://identifiers.org/clinvar/165833 ^@ NM_133378.4(TTN):c.68420A>T (p.Tyr22807Phe) http://identifiers.org/clinvar/179253 ^@ NM_206933.2(USH2A):c.9975G>A (p.Gly3325=) http://identifiers.org/clinvar/162723 ^@ NM_001103.3(ACTN2):c.-3G>T http://identifiers.org/clinvar/178853 ^@ NM_133378.4(TTN):c.52610T>G (p.Val17537Gly) http://identifiers.org/clinvar/179303 ^@ NM_133378.4(TTN):c.30940C>T (p.Pro10314Ser) http://identifiers.org/clinvar/179053 ^@ NM_001256850.1(TTN):c.31816A>C (p.Lys10606Gln) http://identifiers.org/clinvar/177793 ^@ NM_194248.2(OTOF):c.5925delG (p.Leu1976Serfs) http://identifiers.org/clinvar/178752 ^@ NM_001369.2(DNAH5):c.3241A>G (p.Met1081Val) http://identifiers.org/clinvar/162861 ^@ NM_178335.2(CCDC50):c.1203A>G (p.Lys401=) http://identifiers.org/clinvar/178584 ^@ NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) http://identifiers.org/clinvar/162796 ^@ NM_004333.4(BRAF):c.1960T>C (p.Leu654=) http://identifiers.org/clinvar/163114 ^@ NM_001277115.1(DNAH11):c.8798-5G>A http://identifiers.org/clinvar/163057 ^@ NM_015404.3(WHRN):c.44C>T (p.Thr15Ile) http://identifiers.org/clinvar/162965 ^@ NM_000492.3(CFTR):c.1680-981T>C http://identifiers.org/clinvar/198440 ^@ NM_001004334.3(GPR179):c.1484G>A (p.Gly495Glu) http://identifiers.org/clinvar/198492 ^@ NM_003361.3(UMOD):c.1406C>T (p.Thr469Met) http://identifiers.org/clinvar/198545 ^@ NM_006516.2(SLC2A1):c.906G>T (p.Gly302=) http://identifiers.org/clinvar/198597 ^@ NM_031433.3(MFRP):c.898+4C>T http://identifiers.org/clinvar/200963 ^@ NM_005572.3(LMNA):c.1711_1712delCGinsTC (p.Arg571Ser) http://identifiers.org/clinvar/201606 ^@ NM_003000.2(SDHB):c.481delG (p.Asp161Metfs) http://identifiers.org/clinvar/201210 ^@ NM_001035.2(RYR2):c.1172C>G (p.Ala391Gly) http://identifiers.org/clinvar/201380 ^@ NM_001035.2(RYR2):c.3899T>C (p.Met1300Thr) http://identifiers.org/clinvar/201266 ^@ NM_001035.2(RYR2):c.6683G>T (p.Gly2228Val) http://identifiers.org/clinvar/201320 ^@ NM_001035.2(RYR2):c.11995A>G (p.Met3999Val) http://identifiers.org/clinvar/201490 ^@ NM_198056.2(SCN5A):c.3094G>A (p.Glu1032Lys) http://identifiers.org/clinvar/201433 ^@ NM_198056.2(SCN5A):c.539G>T (p.Gly180Val) http://identifiers.org/clinvar/201547 ^@ NM_198056.2(SCN5A):c.57delG (p.Glu19Aspfs) http://identifiers.org/clinvar/199882 ^@ NM_004415.3(DSP):c.4054A>T (p.Arg1352Ter) http://identifiers.org/clinvar/199938 ^@ NM_004415.3(DSP):c.6259T>C (p.Tyr2087His) http://identifiers.org/clinvar/200662 ^@ NM_000238.3(KCNH2):c.2727delG (p.Pro910Argfs) http://identifiers.org/clinvar/200778 ^@ NM_000238.3(KCNH2):c.235G>C (p.Ala79Pro) http://identifiers.org/clinvar/200904 ^@ NM_000218.2(KCNQ1):c.1355G>T (p.Arg452Leu) http://identifiers.org/clinvar/200847 ^@ NM_000218.2(KCNQ1):c.1394-1G>T http://identifiers.org/clinvar/200106 ^@ NM_000138.4(FBN1):c.7205-1G>A http://identifiers.org/clinvar/200053 ^@ NM_000138.4(FBN1):c.4648A>T (p.Ser1550Cys) http://identifiers.org/clinvar/199998 ^@ NM_000138.4(FBN1):c.2539+1G>A http://identifiers.org/clinvar/201091 ^@ NM_002474.2(MYH11):c.5732C>A (p.Thr1911Lys) http://identifiers.org/clinvar/201038 ^@ NM_002474.2(MYH11):c.5313C>T (p.Asn1771=) http://identifiers.org/clinvar/201154 ^@ NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) http://identifiers.org/clinvar/201718 ^@ NM_001927.3(DES):c.295C>G (p.Gln99Glu) http://identifiers.org/clinvar/202050 ^@ NM_001134363.2(RBM20):c.2869C>G (p.Leu957Val) http://identifiers.org/clinvar/201661 ^@ NM_014391.2(ANKRD1):c.652-13delT http://identifiers.org/clinvar/201993 ^@ NM_004572.3(PKP2):c.1767T>G (p.Tyr589Ter) http://identifiers.org/clinvar/202108 ^@ NM_003673.3(TCAP):c.113G>T (p.Cys38Phe) http://identifiers.org/clinvar/201829 ^@ NM_002230.2(JUP):c.1880C>T (p.Ser627Leu) http://identifiers.org/clinvar/201773 ^@ NM_000117.2(EMD):c.449+5G>A http://identifiers.org/clinvar/242588 ^@ NM_000642.2(AGL):c.1283G>A (p.Arg428Lys) http://identifiers.org/clinvar/202167 ^@ NM_001134831.1(AHI1):c.1205delC (p.Pro402Leufs) http://identifiers.org/clinvar/232829 ^@ NM_000038.5(APC):c.7020C>T (p.Asn2340=) http://identifiers.org/clinvar/231878 ^@ NM_005732.3(RAD50):c.1079A>G (p.His360Arg) http://identifiers.org/clinvar/230239 ^@ NM_005732.3(RAD50):c.2124T>C (p.Ala708=) http://identifiers.org/clinvar/230339 ^@ NM_005732.3(RAD50):c.2836G>A (p.Asp946Asn) http://identifiers.org/clinvar/229989 ^@ NM_000535.6(PMS2):c.2036T>C (p.Ile679Thr) http://identifiers.org/clinvar/229939 ^@ NM_020975.4(RET):c.169C>T (p.Arg57Trp) http://identifiers.org/clinvar/232528 ^@ NM_000314.6(PTEN):c.750T>A (p.Cys250Ter) http://identifiers.org/clinvar/232679 ^@ NM_000314.6(PTEN):c.1011T>C (p.Phe337=) http://identifiers.org/clinvar/230939 ^@ NM_000051.3(ATM):c.1722A>G (p.Glu574=) http://identifiers.org/clinvar/231928 ^@ NM_000051.3(ATM):c.3077+4G>A http://identifiers.org/clinvar/229889 ^@ NM_000051.3(ATM):c.7468C>T (p.Leu2490Phe) http://identifiers.org/clinvar/230189 ^@ NM_017841.2(SDHAF2):c.205C>T (p.Arg69Cys) http://identifiers.org/clinvar/232028 ^@ NM_005591.3(MRE11):c.762C>T (p.Thr254=) http://identifiers.org/clinvar/232879 ^@ NM_000059.3(BRCA2):c.171C>A (p.Tyr57Ter) http://identifiers.org/clinvar/231628 ^@ NM_000059.3(BRCA2):c.1022G>C (p.Cys341Ser) http://identifiers.org/clinvar/232428 ^@ NM_000059.3(BRCA2):c.4321G>C (p.Glu1441Gln) http://identifiers.org/clinvar/230589 ^@ NM_000059.3(BRCA2):c.4633delC (p.Leu1545Phefs) http://identifiers.org/clinvar/230439 ^@ NM_000059.3(BRCA2):c.5449T>G (p.Ser1817Ala) http://identifiers.org/clinvar/230839 ^@ NM_000059.3(BRCA2):c.7187T>C (p.Leu2396Ser) http://identifiers.org/clinvar/229789 ^@ NM_000059.3(BRCA2):c.7606T>C (p.Ser2536Pro) http://identifiers.org/clinvar/230489 ^@ NM_000059.3(BRCA2):c.8530G>A (p.Glu2844Lys) http://identifiers.org/clinvar/230789 ^@ NM_024675.3(PALB2):c.3358G>T (p.Glu1120Ter) http://identifiers.org/clinvar/231978 ^@ NM_024675.3(PALB2):c.908T>C (p.Leu303Pro) http://identifiers.org/clinvar/232729 ^@ NM_004360.4(CDH1):c.1230G>A (p.Glu410=) http://identifiers.org/clinvar/231728 ^@ NM_004360.4(CDH1):c.2227C>G (p.Pro743Ala) http://identifiers.org/clinvar/232328 ^@ NM_144997.5(FLCN):c.1702A>G (p.Thr568Ala) http://identifiers.org/clinvar/230689 ^@ NM_001042492.2(NF1):c.6037A>G (p.Ser2013Gly) http://identifiers.org/clinvar/230389 ^@ NM_001042492.2(NF1):c.6772C>T (p.Arg2258Ter) http://identifiers.org/clinvar/231678 ^@ NM_007294.3(BRCA1):c.4654_4673del20 (p.Tyr1552Argfs) http://identifiers.org/clinvar/232178 ^@ NM_007294.3(BRCA1):c.2518A>C (p.Ser840Arg) http://identifiers.org/clinvar/232579 ^@ NM_007294.3(BRCA1):c.2185G>A (p.Glu729Lys) http://identifiers.org/clinvar/230089 ^@ NM_007294.3(BRCA1):c.2043T>G (p.Ser681Arg) http://identifiers.org/clinvar/232629 ^@ NM_007294.3(BRCA1):c.1394A>G (p.Tyr465Cys) http://identifiers.org/clinvar/232278 ^@ NM_032043.2(BRIP1):c.2554A>G (p.Asn852Asp) http://identifiers.org/clinvar/230289 ^@ NM_032043.2(BRIP1):c.2505C>T (p.His835=) http://identifiers.org/clinvar/229689 ^@ NM_000546.5(TP53):c.657_665delCTATGAGCC (p.Tyr220_Pro222del) http://identifiers.org/clinvar/232228 ^@ NM_007194.3(CHEK2):c.1098T>C (p.Ile366=) http://identifiers.org/clinvar/230039 ^@ NM_007194.3(CHEK2):c.110G>A (p.Gly37Asp) http://identifiers.org/clinvar/236377 ^@ NC_000017.10:g.34815551_36249800dup1434250 http://identifiers.org/clinvar/236478 ^@ NM_201253.2(CRB1):c.2308G>A (p.Gly770Ser) http://identifiers.org/clinvar/236528 ^@ NM_006017.2(PROM1):c.694+4A>T http://identifiers.org/clinvar/236428 ^@ NM_002335.3(LRP5):c.121C>T (p.Arg41Trp) http://identifiers.org/clinvar/241418 ^@ NM_022051.2(EGLN1):c.597G>A (p.Val199=) http://identifiers.org/clinvar/238224 ^@ NM_001035.2(RYR2):c.14844T>C (p.Cys4948=) http://identifiers.org/clinvar/240968 ^@ NM_015102.4(NPHP4):c.2808G>A (p.Thr936=) http://identifiers.org/clinvar/238874 ^@ NM_001267550.2(TTN):c.98807G>A (p.Arg32936His) http://identifiers.org/clinvar/238824 ^@ NM_001267550.2(TTN):c.65001A>C (p.Arg21667=) http://identifiers.org/clinvar/238774 ^@ NM_001267550.2(TTN):c.41118delT (p.Phe13706Leufs) http://identifiers.org/clinvar/238724 ^@ NM_001267550.2(TTN):c.2494-7C>A http://identifiers.org/clinvar/240918 ^@ NM_014585.5(SLC40A1):c.430A>T (p.Asn144Tyr) http://identifiers.org/clinvar/239075 ^@ NM_001927.3(DES):c.218G>T (p.Arg73Leu) http://identifiers.org/clinvar/239125 ^@ NM_002354.2(EPCAM):c.20T>A (p.Leu7His) http://identifiers.org/clinvar/241018 ^@ NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) http://identifiers.org/clinvar/241718 ^@ NM_032638.4(GATA2):c.136G>A (p.Asp46Asn) http://identifiers.org/clinvar/240668 ^@ NM_006514.3(SCN10A):c.3255G>A (p.Glu1085=) http://identifiers.org/clinvar/241068 ^@ NM_015896.3(ZMYND10):c.319-6T>C http://identifiers.org/clinvar/240067 ^@ NM_004656.3(BAP1):c.783G>A (p.Gln261=) http://identifiers.org/clinvar/238574 ^@ NM_001148.4(ANK2):c.2622A>G (p.Ser874=) http://identifiers.org/clinvar/236578 ^@ NM_000038.5(APC):c.2725A>G (p.Thr909Ala) http://identifiers.org/clinvar/236628 ^@ NM_000038.5(APC):c.6168C>G (p.Leu2056=) http://identifiers.org/clinvar/238974 ^@ NM_001369.2(DNAH5):c.4373G>A (p.Arg1458Gln) http://identifiers.org/clinvar/238924 ^@ NM_001277115.1(DNAH11):c.4961C>G (p.Ala1654Gly) http://identifiers.org/clinvar/261817 ^@ NM_025074.6(FRAS1):c.9116-11T>C http://identifiers.org/clinvar/263106 ^@ NM_198253.2(TERT):c.2382+20G>C http://identifiers.org/clinvar/258527 ^@ NM_001999.3(FBN2):c.7139-13T>G http://identifiers.org/clinvar/255938 ^@ NM_000358.2(TGFBI):c.460-16C>T http://identifiers.org/clinvar/258777 ^@ NM_002609.3(PDGFRB):c.3090C>T (p.Pro1030=) http://identifiers.org/clinvar/263056 ^@ NM_182925.4(FLT4):c.3971G>C (p.Arg1324Pro) http://identifiers.org/clinvar/256088 ^@ NM_000426.3(LAMA2):c.7573-9T>C http://identifiers.org/clinvar/256288 ^@ NM_000500.7(CYP21A2):c.1473G>A (p.Pro491=) http://identifiers.org/clinvar/261117 ^@ NM_019105.6(TNXB):c.11915A>C (p.Asn3972Thr) http://identifiers.org/clinvar/261167 ^@ NM_019105.6(TNXB):c.8132T>C (p.Ile2711Thr) http://identifiers.org/clinvar/255738 ^@ NM_000287.3(PEX6):c.1646C>T (p.Ala549Val) http://identifiers.org/clinvar/259327 ^@ NM_004370.5(COL12A1):c.2772T>C (p.Tyr924=) http://identifiers.org/clinvar/263206 ^@ NM_198999.2(SLC26A5):c.2019T>C (p.Tyr673=) http://identifiers.org/clinvar/258127 ^@ NM_001458.4(FLNC):c.1813+36G>A http://identifiers.org/clinvar/260267 ^@ NM_012470.3(TNPO3):c.582T>C (p.Asp194=) http://identifiers.org/clinvar/258477 ^@ NM_001868.3(CPA1):c.788-5C>G http://identifiers.org/clinvar/260767 ^@ NM_016616.4(NME8):c.723A>G (p.Glu241=) http://identifiers.org/clinvar/255438 ^@ NM_000168.5(GLI3):c.3774C>G (p.Leu1258=) http://identifiers.org/clinvar/261967 ^@ NM_031443.3(CCM2):c.205-36A>G http://identifiers.org/clinvar/258177 ^@ NM_001715.2(BLK):c.39G>A (p.Lys13=) http://identifiers.org/clinvar/259277 ^@ NM_004315.5(ASAH1):c.174-21A>G http://identifiers.org/clinvar/261317 ^@ NM_020476.2(ANK1):c.5479-3T>C http://identifiers.org/clinvar/260917 ^@ NM_017780.3(CHD7):c.839C>G (p.Pro280Arg) http://identifiers.org/clinvar/262756 ^@ NM_153704.5(TMEM67):c.869+9A>G http://identifiers.org/clinvar/258627 ^@ NM_002316.3(LMX1B):c.559+20G>A http://identifiers.org/clinvar/260517 ^@ NM_015046.5(SETX):c.7114G>A (p.Asp2372Asn) http://identifiers.org/clinvar/262856 ^@ NM_173551.4(ANKS6):c.664C>T (p.Arg222Trp) http://identifiers.org/clinvar/260717 ^@ NM_016341.3(PLCE1):c.3132C>T (p.His1044=) http://identifiers.org/clinvar/258827 ^@ NM_002860.3(ALDH18A1):c.896C>T (p.Thr299Ile) http://identifiers.org/clinvar/260667 ^@ NM_015631.5(TCTN3):c.21G>A (p.Ala7=) http://identifiers.org/clinvar/258077 ^@ NM_001382.3(DPAGT1):c.918-18G>A http://identifiers.org/clinvar/259027 ^@ NM_003282.3(TNNI2):c.8+28A>G http://identifiers.org/clinvar/263256 ^@ NM_199292.2(TH):c.435G>A (p.Glu145=) http://identifiers.org/clinvar/261717 ^@ NM_024426.4(WT1):c.885C>T (p.Tyr295=) http://identifiers.org/clinvar/256188 ^@ NM_000448.2(RAG1):c.1346G>A (p.Arg449Lys) http://identifiers.org/clinvar/258977 ^@ NM_003156.3(STIM1):c.385+12C>T http://identifiers.org/clinvar/258577 ^@ NM_002180.2(IGHMBP2):c.823A>G (p.Ile275Val) http://identifiers.org/clinvar/261417 ^@ NM_021625.4(TRPV4):c.2459-48C>G http://identifiers.org/clinvar/261467 ^@ NM_021957.3(GYS2):c.1423-21A>G http://identifiers.org/clinvar/261217 ^@ NM_020297.3(ABCC9):c.406+38A>C http://identifiers.org/clinvar/260167 ^@ NM_012062.4(DNM1L):c.252G>A (p.Gly84=) http://identifiers.org/clinvar/258227 ^@ NM_001844.4(COL2A1):c.2356-5C>T http://identifiers.org/clinvar/256688 ^@ NM_000552.4(VWF):c.5844C>T (p.Cys1948=) http://identifiers.org/clinvar/261067 ^@ NM_018979.3(WNK1):c.2328G>A (p.Gln776=) http://identifiers.org/clinvar/261017 ^@ NM_018139.2(DNAAF2):c.1864-40G>T http://identifiers.org/clinvar/257138 ^@ NM_001024858.2(SPTB):c.876+5A>G http://identifiers.org/clinvar/255788 ^@ NM_000295.4(SERPINA1):c.522C>T (p.Thr174=) http://identifiers.org/clinvar/260317 ^@ NM_014080.4(DUOX2):c.2033A>G (p.His678Arg) http://identifiers.org/clinvar/263306 ^@ NM_207581.3(DUOXA2):c.555-18C>T http://identifiers.org/clinvar/255288 ^@ NM_000138.4(FBN1):c.2168-46A>G http://identifiers.org/clinvar/335803 ^@ NM_000348.3(SRD5A2):c.*1273A>G http://identifiers.org/clinvar/335853 ^@ NM_014946.3(SPAST):c.*819C>T http://identifiers.org/clinvar/335953 ^@ NM_000104.3(CYP1B1):c.918G>A (p.Gly306=) http://identifiers.org/clinvar/336003 ^@ NM_005633.3(SOS1):c.*805C>A http://identifiers.org/clinvar/336053 ^@ NM_022436.2(ABCG5):c.281C>G (p.Thr94Arg) http://identifiers.org/clinvar/336353 ^@ NM_139279.5(MCFD2):c.*1677T>G http://identifiers.org/clinvar/335653 ^@ NM_001029883.2(C2orf71):c.1762C>T (p.Pro588Ser) http://identifiers.org/clinvar/335703 ^@ NM_004304.4(ALK):c.2210C>T (p.Ser737Leu) http://identifiers.org/clinvar/333712 ^@ NM_001204.6(BMPR2):c.*5624A>G http://identifiers.org/clinvar/335753 ^@ NM_000379.3(XDH):c.*404C>T http://identifiers.org/clinvar/336610 ^@ NM_001039348.2(EFEMP1):c.*946T>C http://identifiers.org/clinvar/333862 ^@ NM_014929.3(FASTKD2):c.*3990G>C http://identifiers.org/clinvar/336103 ^@ NM_133259.3(LRPPRC):c.*2041C>T http://identifiers.org/clinvar/334163 ^@ NM_000384.2(APOB):c.2853G>A (p.Glu951=) http://identifiers.org/clinvar/336303 ^@ NM_001430.4(EPAS1):c.*853G>A http://identifiers.org/clinvar/333812 ^@ NM_014929.3(FASTKD2):c.*159C>A http://identifiers.org/clinvar/333962 ^@ NM_015040.3(PIKFYVE):c.*1938G>C http://identifiers.org/clinvar/334063 ^@ NM_000384.2(APOB):c.*85T>C http://identifiers.org/clinvar/334314 ^@ NM_015488.4(PNKD):c.352+12C>T http://identifiers.org/clinvar/334264 ^@ NM_173076.2(ABCA12):c.1462C>T (p.Leu488=) http://identifiers.org/clinvar/334514 ^@ NM_015311.2(OBSL1):c.1887C>T (p.Asp629=) http://identifiers.org/clinvar/334364 ^@ NM_000784.3(CYP27A1):c.-205C>A http://identifiers.org/clinvar/334414 ^@ NM_025216.2(WNT10A):c.1087A>C (p.Asn363His) http://identifiers.org/clinvar/342400 ^@ NM_000551.3(VHL):c.-64C>T http://identifiers.org/clinvar/334464 ^@ NM_015311.2(OBSL1):c.4941G>T (p.Thr1647=) http://identifiers.org/clinvar/342500 ^@ NM_000551.3(VHL):c.*3352G>A http://identifiers.org/clinvar/342550 ^@ NM_198196.2(CD96):c.*143C>A http://identifiers.org/clinvar/334864 ^@ NM_025243.3(SLC19A3):c.*685G>A http://identifiers.org/clinvar/334614 ^@ NM_003590.4(CUL3):c.*1483C>G http://identifiers.org/clinvar/342700 ^@ NM_020754.3(ARHGAP31):c.*1386A>T http://identifiers.org/clinvar/334664 ^@ NM_000092.4(COL4A4):c.*3187G>A http://identifiers.org/clinvar/342800 ^@ NM_000388.3(CASR):c.1923C>T (p.Pro641=) http://identifiers.org/clinvar/342850 ^@ NM_053025.3(MYLK):c.*524C>A http://identifiers.org/clinvar/342950 ^@ NM_000373.3(UMPS):c.*1088T>G http://identifiers.org/clinvar/334914 ^@ NM_004509.3(SP110):c.550C>T (p.Pro184Ser) http://identifiers.org/clinvar/343150 ^@ NM_004637.5(RAB7A):c.-215C>T http://identifiers.org/clinvar/334964 ^@ NM_000751.2(CHRND):c.411C>T (p.Gly137=) http://identifiers.org/clinvar/343200 ^@ NM_014049.4(ACAD9):c.1398C>T (p.Thr466=) http://identifiers.org/clinvar/342450 ^@ NM_000551.3(VHL):c.*1808A>G http://identifiers.org/clinvar/335064 ^@ NM_000541.4(SAG):c.-223C>G http://identifiers.org/clinvar/343400 ^@ NM_003571.3(BFSP2):c.162C>T (p.Pro54=) http://identifiers.org/clinvar/343900 ^@ NM_005677.3(COLQ):c.-122C>T http://identifiers.org/clinvar/335903 ^@ NM_001011.3(RPS7):c.75+13C>T http://identifiers.org/clinvar/343000 ^@ NM_000373.3(UMPS):c.*3193T>C http://identifiers.org/clinvar/343100 ^@ NM_002880.3(RAF1):c.*162T>C http://identifiers.org/clinvar/336153 ^@ NM_133259.3(LRPPRC):c.2385C>T (p.Gly795=) http://identifiers.org/clinvar/343300 ^@ NM_000539.3(RHO):c.*838A>T http://identifiers.org/clinvar/357695 ^@ NM_001142800.1(EYS):c.7034G>A (p.Arg2345His) http://identifiers.org/clinvar/357945 ^@ NM_004415.3(DSP):c.2719C>T (p.Arg907Cys) http://identifiers.org/clinvar/355106 ^@ NM_000493.3(COL10A1):c.430C>T (p.Pro144Ser) http://identifiers.org/clinvar/358395 ^@ NM_005045.3(RELN):c.5211-8_5211-7dupTT http://identifiers.org/clinvar/358445 ^@ NM_006348.3(COG5):c.*544delA http://identifiers.org/clinvar/355356 ^@ NM_006208.2(ENPP1):c.*96C>T http://identifiers.org/clinvar/358595 ^@ NM_014491.3(FOXP2):c.-335A>G http://identifiers.org/clinvar/355456 ^@ NM_172105.3(EYA4):c.*1513T>C http://identifiers.org/clinvar/355856 ^@ NM_033071.3(SYNE1):c.16710G>A (p.Leu5570=) http://identifiers.org/clinvar/356506 ^@ NM_182548.3(LHFPL5):c.*449C>T http://identifiers.org/clinvar/356556 ^@ NM_001145717.1(PNPLA1):c.372C>T (p.Leu124=) http://identifiers.org/clinvar/360034 ^@ NM_000823.3(GHRHR):c.812+12C>T http://identifiers.org/clinvar/360084 ^@ NM_133468.4(BMPER):c.-362C>A http://identifiers.org/clinvar/360134 ^@ NM_133468.4(BMPER):c.*767C>T http://identifiers.org/clinvar/352816 ^@ NM_001017995.2(SH3PXD2B):c.1063-7G>A http://identifiers.org/clinvar/360384 ^@ NM_014855.2(AP5Z1):c.*1555C>G http://identifiers.org/clinvar/352916 ^@ NM_022455.4(NSD1):c.*2330A>G http://identifiers.org/clinvar/352866 ^@ NM_002449.4(MSX2):c.*1312A>G http://identifiers.org/clinvar/353116 ^@ NM_014244.4(ADAMTS2):c.2015G>T (p.Arg672Leu) http://identifiers.org/clinvar/353016 ^@ NM_006261.4(PROP1):c.109+3G>A http://identifiers.org/clinvar/360984 ^@ NM_000089.3(COL1A2):c.*804G>T http://identifiers.org/clinvar/353216 ^@ NM_016180.4(SLC45A2):c.1076_1077delAG (p.Glu359Valfs) http://identifiers.org/clinvar/357645 ^@ NM_183227.2(RAB23):c.242-15_242-12dupATTG http://identifiers.org/clinvar/357745 ^@ NM_001142800.1(EYS):c.777G>A (p.Gln259=) http://identifiers.org/clinvar/353266 ^@ NM_002185.3(IL7R):c.602A>G (p.Tyr201Cys) http://identifiers.org/clinvar/357845 ^@ NM_014989.5(RIMS1):c.2367T>C (p.Asp789=) http://identifiers.org/clinvar/353716 ^@ NM_000163.4(GHR):c.*2018T>C http://identifiers.org/clinvar/353416 ^@ NM_023073.3(C5orf42):c.9090G>A (p.Pro3030=) http://identifiers.org/clinvar/353816 ^@ NM_002203.3(ITGA2):c.*2075A>G http://identifiers.org/clinvar/358095 ^@ NM_181714.3(LCA5):c.1201G>A (p.Val401Ile) http://identifiers.org/clinvar/363843 ^@ NM_019098.4(CNGB3):c.*1701C>T http://identifiers.org/clinvar/363993 ^@ NM_177965.3(C8orf37):c.*1458A>C http://identifiers.org/clinvar/363893 ^@ NM_002485.4(NBN):c.*1961T>C http://identifiers.org/clinvar/363943 ^@ NM_018444.3(PDP1):c.717C>G (p.Ala239=) http://identifiers.org/clinvar/364043 ^@ NM_001001557.3(GDF6):c.1233C>T (p.Asp411=) http://identifiers.org/clinvar/364243 ^@ NM_014425.4(INVS):c.*468_*469delCA http://identifiers.org/clinvar/364293 ^@ NM_000035.3(ALDOB):c.*802A>G http://identifiers.org/clinvar/364393 ^@ NM_005502.3(ABCA1):c.5301T>C (p.Tyr1767=) http://identifiers.org/clinvar/307229 ^@ NM_002834.4(PTPN11):c.*329T>C http://identifiers.org/clinvar/307429 ^@ NM_014365.2(HSPB8):c.*707_*720delCTCCAGACAGCTCCinsAAAA http://identifiers.org/clinvar/364493 ^@ NM_001079802.1(FKTN):c.*786T>G http://identifiers.org/clinvar/307479 ^@ NM_002150.2(HPD):c.954+14A>C http://identifiers.org/clinvar/307779 ^@ NM_006205.2(PDE6H):c.-102G>T http://identifiers.org/clinvar/307829 ^@ NM_172364.4(CACNA2D4):c.3357G>A (p.Pro1119=) http://identifiers.org/clinvar/307879 ^@ NM_172364.4(CACNA2D4):c.-174C>T http://identifiers.org/clinvar/308029 ^@ NM_002300.7(LDHB):c.-81G>C http://identifiers.org/clinvar/308229 ^@ NM_000719.6(CACNA1C):c.*4090G>A http://identifiers.org/clinvar/308279 ^@ NM_139241.3(FGD4):c.-370G>A http://identifiers.org/clinvar/308579 ^@ NM_017641.3(KIF21A):c.1628A>G (p.Lys543Arg) http://identifiers.org/clinvar/365632 ^@ NM_000787.3(DBH):c.253G>A (p.Val85Ile) http://identifiers.org/clinvar/365832 ^@ NM_052813.4(CARD9):c.1393T>C (p.Phe465Leu) http://identifiers.org/clinvar/365882 ^@ NM_019892.5(INPP5E):c.1388-5C>T http://identifiers.org/clinvar/365933 ^@ NM_006412.3(AGPAT2):c.182+8C>T http://identifiers.org/clinvar/298336 ^@ NM_000195.4(HPS1):c.2053G>C (p.Gly685Arg) http://identifiers.org/clinvar/365983 ^@ NM_016219.4(MAN1B1):c.*292G>A http://identifiers.org/clinvar/366183 ^@ NM_144966.5(FREM1):c.-149A>G http://identifiers.org/clinvar/366233 ^@ NM_002451.3(MTAP):c.-108_-103delCACTGC http://identifiers.org/clinvar/366333 ^@ NM_003070.4(SMARCA2):c.*181C>T http://identifiers.org/clinvar/310118 ^@ NM_001038.5(SCNN1A):c.*920C>T http://identifiers.org/clinvar/366133 ^@ NM_144966.5(FREM1):c.3606C>G (p.Ser1202Arg) http://identifiers.org/clinvar/310168 ^@ NM_002076.3(GNS):c.*2740G>A http://identifiers.org/clinvar/310218 ^@ NM_014319.4(LEMD3):c.86G>C (p.Gly29Ala) http://identifiers.org/clinvar/310268 ^@ NM_021150.3(GRIP1):c.*1495_*1497dupAAT http://identifiers.org/clinvar/366583 ^@ NM_175073.2(APTX):c.*806G>A http://identifiers.org/clinvar/366683 ^@ NM_012144.3(DNAI1):c.-41T>C http://identifiers.org/clinvar/366733 ^@ NM_004629.1(FANCG):c.1252G>A (p.Glu418Lys) http://identifiers.org/clinvar/366783 ^@ NM_003995.3(NPR2):c.873+13C>A http://identifiers.org/clinvar/310618 ^@ NM_025114.3(CEP290):c.1623+10G>A http://identifiers.org/clinvar/366433 ^@ NM_000459.4(TEK):c.1900C>T (p.Leu634Phe) http://identifiers.org/clinvar/306690 ^@ NM_018979.3(WNK1):c.*1304C>T http://identifiers.org/clinvar/310723 ^@ NM_002108.3(HAL):c.322C>T (p.Arg108Trp) http://identifiers.org/clinvar/310773 ^@ NM_003276.2(TMPO):c.*15A>T http://identifiers.org/clinvar/366533 ^@ NM_001256054.2(C9orf72):c.-164T>C http://identifiers.org/clinvar/367033 ^@ NM_004170.5(SLC1A1):c.81G>C (p.Ala27=) http://identifiers.org/clinvar/367083 ^@ NM_004170.5(SLC1A1):c.*1215T>C http://identifiers.org/clinvar/340510 ^@ NM_006031.5(PCNT):c.5826G>A (p.Arg1942=) http://identifiers.org/clinvar/312712 ^@ NM_022489.3(INF2):c.3684G>A (p.Arg1228=) http://identifiers.org/clinvar/340661 ^@ NM_014339.6(IL17RA):c.*2591C>T http://identifiers.org/clinvar/340711 ^@ NM_014339.6(IL17RA):c.*4465C>T http://identifiers.org/clinvar/312912 ^@ NM_000257.3(MYH7):c.1671G>T (p.Leu557=) http://identifiers.org/clinvar/322586 ^@ NM_000267.3(NF1):c.*873A>T http://identifiers.org/clinvar/313162 ^@ NM_006194.3(PAX9):c.-119A>T http://identifiers.org/clinvar/315411 ^@ NM_144599.4(NIPA1):c.*886C>T http://identifiers.org/clinvar/323236 ^@ NM_139276.2(STAT3):c.*582A>T http://identifiers.org/clinvar/342000 ^@ NM_018006.4(TRMU):c.-113G>C http://identifiers.org/clinvar/342050 ^@ NM_024105.3(ALG12):c.639C>T (p.Ala213=) http://identifiers.org/clinvar/323436 ^@ NM_025237.2(SOST):c.*140A>G http://identifiers.org/clinvar/342150 ^@ NM_001953.4(TYMP):c.563G>C (p.Ser188Thr) http://identifiers.org/clinvar/367901 ^@ NM_194277.2(FRMD7):c.*600C>G http://identifiers.org/clinvar/315961 ^@ NM_173500.3(TTBK2):c.*1153G>A http://identifiers.org/clinvar/323786 ^@ NM_001193466.1(KANSL1):c.910C>T (p.Arg304Cys) http://identifiers.org/clinvar/323836 ^@ NM_004287.4(GOSR2):c.*1105A>T http://identifiers.org/clinvar/368051 ^@ NM_000033.3(ABCD1):c.2044G>C (p.Glu682Gln) http://identifiers.org/clinvar/368151 ^@ NM_014332.2(SMPX):c.264G>A (p.Gln88=) http://identifiers.org/clinvar/323986 ^@ NM_000080.3(CHRNE):c.1030C>G (p.His344Asp) http://identifiers.org/clinvar/324142 ^@ NM_053013.3(ENO3):c.554G>T (p.Gly185Val) http://identifiers.org/clinvar/316261 ^@ NM_000338.2(SLC12A1):c.1912C>T (p.Leu638Phe) http://identifiers.org/clinvar/324036 ^@ NM_005220.2(DLX3):c.-225G>A http://identifiers.org/clinvar/324193 ^@ NM_015294.4(TRIM37):c.2512G>A (p.Val838Ile) http://identifiers.org/clinvar/316611 ^@ NM_004580.4(RAB27A):c.*2007G>A http://identifiers.org/clinvar/324345 ^@ NM_032043.2(BRIP1):c.*152G>T http://identifiers.org/clinvar/316711 ^@ NM_000942.4(PPIB):c.-118A>G http://identifiers.org/clinvar/368751 ^@ NM_021998.4(ZNF711):c.*153A>G http://identifiers.org/clinvar/317011 ^@ NM_014249.3(NR2E3):c.349+8G>A http://identifiers.org/clinvar/317061 ^@ NM_033028.4(BBS4):c.752A>G (p.Asp251Gly) http://identifiers.org/clinvar/316061 ^@ NM_201631.3(TGM5):c.654C>T (p.Pro218=) http://identifiers.org/clinvar/316111 ^@ NM_025137.3(SPG11):c.833A>G (p.Asn278Ser) http://identifiers.org/clinvar/316161 ^@ NM_014080.4(DUOX2):c.2703C>A (p.Ala901=) http://identifiers.org/clinvar/316361 ^@ NM_000138.4(FBN1):c.8227-3C>T http://identifiers.org/clinvar/372006 ^@ NM_006231.3(POLE):c.2026+9C>T http://identifiers.org/clinvar/371906 ^@ NM_006231.3(POLE):c.1359+18C>T http://identifiers.org/clinvar/371956 ^@ NM_000059.3(BRCA2):c.5487_5488delGT (p.Leu1829Phefs) http://identifiers.org/clinvar/372056 ^@ NM_024675.3(PALB2):c.2748+1G>C http://identifiers.org/clinvar/371806 ^@ NM_004360.4(CDH1):c.2296-1G>A http://identifiers.org/clinvar/372106 ^@ NM_006412.3(AGPAT2):c.492+1G>A http://identifiers.org/clinvar/372169 ^@ NM_012186.2(FOXE3):c.351C>G (p.Asn117Lys) http://identifiers.org/clinvar/372235 ^@ NM_014026.4(DCPS):c.947C>T (p.Thr316Met) http://identifiers.org/clinvar/372289 ^@ NM_000350.2(ABCA4):c.1988G>A (p.Trp663Ter) http://identifiers.org/clinvar/373451 ^@ NM_014159.6(SETD2):c.4376G>A (p.Arg1459Gln) http://identifiers.org/clinvar/372500 ^@ NM_198056.2(SCN5A):c.3908G>A (p.Arg1303Gln) http://identifiers.org/clinvar/372342 ^@ NM_000094.3(COL7A1):c.5720_5721delGAinsAT (p.Gly1907Asp) http://identifiers.org/clinvar/372653 ^@ NM_002834.4(PTPN11):c.1642T>C (p.Ser548Pro) http://identifiers.org/clinvar/372443 ^@ NM_000280.4(PAX6):c.917-9T>A http://identifiers.org/clinvar/373601 ^@ NM_001145026.1(PTPRQ):c.3125A>G (p.Asp1042Gly) http://identifiers.org/clinvar/372552 ^@ NM_002834.4(PTPN11):c.1051C>T (p.Arg351Ter) http://identifiers.org/clinvar/373551 ^@ NM_002471.3(MYH6):c.4823G>A (p.Arg1608His) http://identifiers.org/clinvar/373401 ^@ NM_145239.2(PRRT2):c.455C>A (p.Pro152His) http://identifiers.org/clinvar/372602 ^@ NM_001083961.1(WDR62):c.778T>C (p.Cys260Arg) http://identifiers.org/clinvar/372392 ^@ NM_000219.5(KCNE1):c.173C>T (p.Thr58Ile) http://identifiers.org/clinvar/373501 ^@ NM_017669.2(ERCC6L):c.2803_2812delGAGGCCAAGT (p.Glu935Trpfs) http://identifiers.org/clinvar/388541 ^@ NM_000090.3(COL3A1):c.528+12T>C http://identifiers.org/clinvar/385952 ^@ NM_000179.2(MSH6):c.628-7C>T http://identifiers.org/clinvar/378167 ^@ NM_000179.2(MSH6):c.1837T>C (p.Leu613=) http://identifiers.org/clinvar/383762 ^@ NM_015120.4(ALMS1):c.8573A>G (p.Asn2858Ser) http://identifiers.org/clinvar/382459 ^@ NM_006302.2(MOGS):c.1245C>G (p.Ile415Met) http://identifiers.org/clinvar/389541 ^@ NM_053025.3(MYLK):c.1516A>G (p.Arg506Gly) http://identifiers.org/clinvar/381418 ^@ NM_004130.3(GYG1):c.114C>T (p.Leu38=) http://identifiers.org/clinvar/385702 ^@ NM_032806.5(POMGNT2):c.438G>A (p.Pro146=) http://identifiers.org/clinvar/385013 ^@ NM_018297.3(NGLY1):c.1869T>C (p.Gly623=) http://identifiers.org/clinvar/380566 ^@ NM_000249.3(MLH1):c.589-8T>C http://identifiers.org/clinvar/383060 ^@ NM_172250.2(MMAA):c.-35A>T http://identifiers.org/clinvar/388891 ^@ NM_015340.3(LARS2):c.1989G>T (p.Arg663=) http://identifiers.org/clinvar/379865 ^@ NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser) http://identifiers.org/clinvar/384012 ^@ NM_001203.2(BMPR1B):c.1448C>T (p.Thr483Ile) http://identifiers.org/clinvar/380918 ^@ NM_024582.4(FAT4):c.739C>A (p.Pro247Thr) http://identifiers.org/clinvar/377865 ^@ NM_001999.3(FBN2):c.339G>A (p.Pro113=) http://identifiers.org/clinvar/383862 ^@ NM_023073.3(C5orf42):c.2318A>G (p.Tyr773Cys) http://identifiers.org/clinvar/384262 ^@ NM_002454.2(MTRR):c.781-4C>G http://identifiers.org/clinvar/387052 ^@ NM_000249.3(MLH1):c.454-6G>A http://identifiers.org/clinvar/387152 ^@ NM_004168.3(SDHA):c.1356C>T (p.Leu452=) http://identifiers.org/clinvar/383311 ^@ NM_033071.3(SYNE1):c.4029+19G>A http://identifiers.org/clinvar/386802 ^@ NM_005051.2(QARS):c.549T>C (p.Ala183=) http://identifiers.org/clinvar/386752 ^@ NM_013334.3(GMPPB):c.-29G>C http://identifiers.org/clinvar/388741 ^@ NM_004415.3(DSP):c.4041A>G (p.Glu1347=) http://identifiers.org/clinvar/377665 ^@ NM_000742.3(CHRNA2):c.684C>T (p.Ser228=) http://identifiers.org/clinvar/384913 ^@ NM_006904.6(PRKDC):c.3848-14A>T http://identifiers.org/clinvar/389141 ^@ NM_000238.3(KCNH2):c.1973A>G (p.Asn658Ser) http://identifiers.org/clinvar/386302 ^@ NM_002485.4(NBN):c.1194A>G (p.Gln398=) http://identifiers.org/clinvar/378371 ^@ NM_000445.4(PLEC):c.11524G>C (p.Gly3842Arg) http://identifiers.org/clinvar/380115 ^@ NM_020732.3(ARID1B):c.5303C>T (p.Pro1768Leu) http://identifiers.org/clinvar/384312 ^@ NM_018341.2(ERMARD):c.1513A>G (p.Thr505Ala) http://identifiers.org/clinvar/380315 ^@ NM_001130438.2(SPTAN1):c.4543G>A (p.Gly1515Ser) http://identifiers.org/clinvar/389591 ^@ NM_000264.3(PTCH1):c.1153A>G (p.Ile385Val) http://identifiers.org/clinvar/379965 ^@ NM_004092.3(ECHS1):c.224C>T (p.Thr75Ile) http://identifiers.org/clinvar/378267 ^@ NM_006393.2(NEBL):c.2673A>G (p.Thr891=) http://identifiers.org/clinvar/133044 ^@ NM_000540.2(RYR1):c.12960_12968dupGCGGCGGCT (p.Leu4323_Thr4324insArgArgLeu) http://identifiers.org/clinvar/133094 ^@ NM_000540.2(RYR1):c.14825G>T (p.Gly4942Val) http://identifiers.org/clinvar/133144 ^@ NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) http://identifiers.org/clinvar/133194 ^@ NM_000540.2(RYR1):c.7291G>A (p.Asp2431Asn) http://identifiers.org/clinvar/133244 ^@ NM_000540.2(RYR1):c.9555-13C>T http://identifiers.org/clinvar/133324 ^@ NM_139242.3(MTFMT):c.878G>A (p.Ser293Asn) http://identifiers.org/clinvar/133386 ^@ NM_001128849.1(SMARCA4):c.*1G>T http://identifiers.org/clinvar/135235 ^@ NM_014159.6(SETD2):c.3240G>A (p.Met1080Ile) http://identifiers.org/clinvar/185037 ^@ NM_001042492.2(NF1):c.7645T>C (p.Ser2549Pro) http://identifiers.org/clinvar/184337 ^@ NM_002878.3(RAD51D):c.757C>A (p.Arg253=) http://identifiers.org/clinvar/184087 ^@ NM_007294.3(BRCA1):c.5388A>G (p.Ser1796=) http://identifiers.org/clinvar/184837 ^@ NM_000455.4(STK11):c.1062C>T (p.Phe354=) http://identifiers.org/clinvar/189370 ^@ NM_153223.3(CEP120):c.595G>C (p.Ala199Pro) http://identifiers.org/clinvar/189450 ^@ NM_000314.6(PTEN):c.739_740insAT (p.Leu247Tyrfs) http://identifiers.org/clinvar/189622 ^@ NM_005249.4(FOXG1):c.969delC (p.Ser323Argfs) http://identifiers.org/clinvar/189572 ^@ NM_003159.2(CDKL5):c.2377-?_*85del http://identifiers.org/clinvar/189906 ^@ NM_001165963.1(SCN1A):c.2071A>T (p.Lys691Ter) http://identifiers.org/clinvar/190006 ^@ NM_001165963.1(SCN1A):c.1804G>T (p.Glu602Ter) http://identifiers.org/clinvar/189956 ^@ NM_001165963.1(SCN1A):c.323T>C (p.Leu108Pro) http://identifiers.org/clinvar/190127 ^@ NM_001256011.2(PNPLA8):c.334_337delAATT (p.Asn112Hisfs) http://identifiers.org/clinvar/190191 ^@ NM_001110556.1(FLNA):c.3980-5_3990dup16 http://identifiers.org/clinvar/190247 ^@ NM_021140.3(KDM6A):c.2515_2518delAACA (p.Asn839Valfs) http://identifiers.org/clinvar/190325 ^@ NM_004974.3(KCNA2):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/190378 ^@ NM_002755.3(MAP2K1):c.305A>G (p.Glu102Gly) http://identifiers.org/clinvar/227317 ^@ NM_001277115.1(DNAH11):c.12175G>A (p.Ala4059Thr) http://identifiers.org/clinvar/227417 ^@ NM_024915.3(GRHL2):c.804C>T (p.Thr268=) http://identifiers.org/clinvar/227367 ^@ NM_000503.5(EYA1):c.1377T>A (p.Ala459=) http://identifiers.org/clinvar/226615 ^@ NM_014908.3(DOLK):c.1437T>C (p.Ser479=) http://identifiers.org/clinvar/229187 ^@ NM_001134363.2(RBM20):c.1538G>A (p.Arg513Gln) http://identifiers.org/clinvar/229137 ^@ NM_033056.3(PCDH15):c.2396G>A (p.Arg799His) http://identifiers.org/clinvar/229037 ^@ NM_032578.3(MYPN):c.65C>G (p.Ala22Gly) http://identifiers.org/clinvar/227216 ^@ NM_022124.5(CDH23):c.1514+13C>T http://identifiers.org/clinvar/228248 ^@ NM_022124.5(CDH23):c.2701G>A (p.Glu901Lys) http://identifiers.org/clinvar/227066 ^@ NM_001098668.3(SFTPA2):c.26C>A (p.Thr9Asn) http://identifiers.org/clinvar/227898 ^@ NM_002906.3(RDX):c.1091-10T>C http://identifiers.org/clinvar/227998 ^@ NM_005422.2(TECTA):c.4047C>T (p.Ala1349=) http://identifiers.org/clinvar/226865 ^@ NM_001277269.1(OTOG):c.1976C>T (p.Thr659Met) http://identifiers.org/clinvar/229087 ^@ NM_001277269.1(OTOG):c.2975G>C (p.Arg992Pro) http://identifiers.org/clinvar/227797 ^@ NM_001277269.1(OTOG):c.7729+13C>T http://identifiers.org/clinvar/226915 ^@ NM_001277269.1(OTOG):c.8227-12C>A http://identifiers.org/clinvar/227948 ^@ NM_139319.2(SLC17A8):c.1404C>T (p.Val468=) http://identifiers.org/clinvar/227847 ^@ NM_004572.3(PKP2):c.2169A>G (p.Thr723=) http://identifiers.org/clinvar/229237 ^@ NM_001038.5(SCNN1A):c.997C>T (p.Arg333Cys) http://identifiers.org/clinvar/226965 ^@ NM_173591.3(OTOGL):c.6177A>G (p.Gln2059=) http://identifiers.org/clinvar/227597 ^@ NM_000257.3(MYH7):c.354G>A (p.Ser118=) http://identifiers.org/clinvar/227747 ^@ NM_001079668.2(NKX2-1):c.201G>C (p.Pro67=) http://identifiers.org/clinvar/226515 ^@ NM_006383.3(CIB2):c.303G>A (p.Ser101=) http://identifiers.org/clinvar/229287 ^@ NM_001199107.1(TBC1D24):c.439G>A (p.Asp147Asn) http://identifiers.org/clinvar/227647 ^@ NM_016239.3(MYO15A):c.6624G>A (p.Pro2208=) http://identifiers.org/clinvar/228198 ^@ NM_173477.4(USH1G):c.756C>T (p.Asp252=) http://identifiers.org/clinvar/226815 ^@ NM_003803.3(MYOM1):c.2879T>C (p.Ile960Thr) http://identifiers.org/clinvar/227697 ^@ NM_003803.3(MYOM1):c.2598G>A (p.Pro866=) http://identifiers.org/clinvar/227517 ^@ NM_144612.6(LOXHD1):c.3293A>G (p.Asn1098Ser) http://identifiers.org/clinvar/227166 ^@ NM_001614.3(ACTG1):c.267C>T (p.Thr89=) http://identifiers.org/clinvar/228048 ^@ NM_144991.2(TSPEAR):c.1524C>T (p.Tyr508=) http://identifiers.org/clinvar/232478 ^@ NM_001128425.1(MUTYH):c.1007C>T (p.Thr336Ile) http://identifiers.org/clinvar/229839 ^@ NM_000465.3(BARD1):c.1752G>A (p.Met584Ile) http://identifiers.org/clinvar/231778 ^@ NM_000465.3(BARD1):c.263C>T (p.Thr88Ile) http://identifiers.org/clinvar/229739 ^@ NM_000251.2(MSH2):c.-68-145A>C http://identifiers.org/clinvar/230639 ^@ NM_000251.2(MSH2):c.-68-18G>A http://identifiers.org/clinvar/232128 ^@ NM_000251.2(MSH2):c.265G>A (p.Val89Ile) http://identifiers.org/clinvar/232378 ^@ NM_000251.2(MSH2):c.1638G>A (p.Lys546=) http://identifiers.org/clinvar/232779 ^@ NM_000179.2(MSH6):c.1407T>C (p.Tyr469=) http://identifiers.org/clinvar/230139 ^@ NM_000249.3(MLH1):c.110A>G (p.Glu37Gly) http://identifiers.org/clinvar/231828 ^@ NM_000038.5(APC):c.239G>C (p.Ser80Thr) http://identifiers.org/clinvar/230739 ^@ NM_000038.5(APC):c.2463C>T (p.Val821=) http://identifiers.org/clinvar/232078 ^@ NM_000038.5(APC):c.3211C>T (p.Gln1071Ter) http://identifiers.org/clinvar/263814 ^@ NM_005902.3(SMAD3):c.9C>T (p.Ser3=) http://identifiers.org/clinvar/263462 ^@ NM_002474.2(MYH11):c.3432C>T (p.Leu1144=) http://identifiers.org/clinvar/263664 ^@ NM_002230.2(JUP):c.1296C>T (p.Asn432=) http://identifiers.org/clinvar/264370 ^@ NM_002230.2(JUP):c.329C>T (p.Ala110Val) http://identifiers.org/clinvar/264320 ^@ NM_000071.2(CBS):c.612G>C (p.Val204=) http://identifiers.org/clinvar/264270 ^@ NM_006440.4(TXNRD2):c.917C>T (p.Thr306Met) http://identifiers.org/clinvar/263411 ^@ NM_006440.4(TXNRD2):c.895A>C (p.Ser299Arg) http://identifiers.org/clinvar/264620 ^@ NM_001456.3(FLNA):c.1326C>T (p.Tyr442=) http://identifiers.org/clinvar/264678 ^@ NM_202001.2(ERCC1):c.676A>T (p.Lys226Ter) http://identifiers.org/clinvar/264735 ^@ NM_001242896.1(DEPDC5):c.1909C>T (p.Arg637Ter) http://identifiers.org/clinvar/264940 ^@ NM_000059.3(BRCA2):c.317-1680G>A http://identifiers.org/clinvar/264890 ^@ NM_000059.3(BRCA2):c.9256+3595T>C http://identifiers.org/clinvar/264840 ^@ NM_007294.3(BRCA1):c.5277+861G>A http://identifiers.org/clinvar/264790 ^@ NM_007294.3(BRCA1):c.4676-55C>T http://identifiers.org/clinvar/265196 ^@ NM_006147.3(IRF6):c.226C>T (p.Pro76Ser) http://identifiers.org/clinvar/265145 ^@ NM_000143.3(FH):c.214A>C (p.Thr72Pro) http://identifiers.org/clinvar/265249 ^@ NM_005373.2(MPL):c.378delT (p.Phe126Leufs) http://identifiers.org/clinvar/265400 ^@ NM_000043.5(FAS):c.879_880delAT (p.Leu294Aspfs) http://identifiers.org/clinvar/265450 ^@ NM_130799.2(MEN1):c.421C>T (p.Gln141Ter) http://identifiers.org/clinvar/264992 ^@ NM_015665.5(AAAS):c.1066_1067delCT (p.Leu356Valfs) http://identifiers.org/clinvar/265095 ^@ NM_000785.3(CYP27B1):c.1286G>C (p.Arg429Pro) http://identifiers.org/clinvar/265550 ^@ NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTGTAG (p.Lys2404Cysfs) http://identifiers.org/clinvar/265300 ^@ NM_015272.4(RPGRIP1L):c.1421delA (p.Asn474Metfs) http://identifiers.org/clinvar/265350 ^@ NM_020988.2(GNAO1):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/265500 ^@ NM_000444.5(PHEX):c.538delT (p.Trp180Glyfs) http://identifiers.org/clinvar/265045 ^@ NM_017745.5(BCOR):c.2287C>T (p.Arg763Trp) http://identifiers.org/clinvar/291619 ^@ NM_015074.3(KIF1B):c.*2247G>A http://identifiers.org/clinvar/291769 ^@ NM_007375.3(TARDBP):c.*2750G>A http://identifiers.org/clinvar/291819 ^@ NM_013319.2(UBIAD1):c.-4T>C http://identifiers.org/clinvar/291669 ^@ NM_015074.3(KIF1B):c.*4919G>A http://identifiers.org/clinvar/292019 ^@ NM_138959.2(VANGL1):c.*301G>C http://identifiers.org/clinvar/291719 ^@ NM_005272.3(GNAT2):c.672T>C (p.Cys224=) http://identifiers.org/clinvar/291869 ^@ NM_003051.3(SLC16A1):c.362-14_362-13insCTTT http://identifiers.org/clinvar/291919 ^@ NM_003051.3(SLC16A1):c.-249C>G http://identifiers.org/clinvar/292369 ^@ NM_014874.3(MFN2):c.-161G>A http://identifiers.org/clinvar/292069 ^@ NM_138959.2(VANGL1):c.*3598A>G http://identifiers.org/clinvar/292169 ^@ NM_005957.4(MTHFR):c.*3995G>A http://identifiers.org/clinvar/292519 ^@ NM_019032.5(ADAMTSL4):c.514C>T (p.Arg172Cys) http://identifiers.org/clinvar/291969 ^@ NM_002524.4(NRAS):c.*740G>A http://identifiers.org/clinvar/292669 ^@ NM_152263.3(TPM3):c.*2130delC http://identifiers.org/clinvar/292469 ^@ NM_005267.4(GJA8):c.893A>G (p.Asn298Ser) http://identifiers.org/clinvar/292119 ^@ NM_001232.3(CASQ2):c.*929C>T http://identifiers.org/clinvar/292269 ^@ NM_000198.3(HSD3B2):c.*46C>T http://identifiers.org/clinvar/292219 ^@ NM_005957.4(MTHFR):c.*584C>T http://identifiers.org/clinvar/292319 ^@ NM_006623.3(PHGDH):c.1257G>A (p.Gly419=) http://identifiers.org/clinvar/293258 ^@ NM_000309.3(PPOX):c.1087C>G (p.Leu363Val) http://identifiers.org/clinvar/293308 ^@ NM_000530.7(MPZ):c.*568C>G http://identifiers.org/clinvar/292419 ^@ NM_213653.3(HFE2):c.204_206delAGG (p.Gly69del) http://identifiers.org/clinvar/292569 ^@ NM_019032.5(ADAMTSL4):c.*126G>A http://identifiers.org/clinvar/293408 ^@ NM_004431.4(EPHA2):c.2875G>A (p.Ala959Thr) http://identifiers.org/clinvar/293608 ^@ NM_000130.4(F5):c.3438C>G (p.His1146Gln) http://identifiers.org/clinvar/293358 ^@ NM_003001.3(SDHC):c.*1800G>C http://identifiers.org/clinvar/292619 ^@ NM_000449.3(RFX5):c.40G>A (p.Gly14Arg) http://identifiers.org/clinvar/293508 ^@ NM_006996.2(SLC19A2):c.*1588T>G http://identifiers.org/clinvar/293708 ^@ NM_000261.1(MYOC):c.1188G>A (p.Glu396=) http://identifiers.org/clinvar/292719 ^@ NM_001111.4(ADAR):c.*1712C>G http://identifiers.org/clinvar/293908 ^@ NM_002065.6(GLUL):c.*1596G>A http://identifiers.org/clinvar/294008 ^@ NM_005562.2(LAMC2):c.2387C>T (p.Ala796Val) http://identifiers.org/clinvar/294158 ^@ NM_031935.2(HMCN1):c.4920G>A (p.Met1640Ile) http://identifiers.org/clinvar/294208 ^@ NM_031935.2(HMCN1):c.9182A>G (p.His3061Arg) http://identifiers.org/clinvar/294308 ^@ NM_031935.2(HMCN1):c.16627T>C (p.Phe5543Leu) http://identifiers.org/clinvar/294358 ^@ NM_003748.3(ALDH4A1):c.*122T>C http://identifiers.org/clinvar/293458 ^@ NM_005149.2(TBX19):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/294408 ^@ NM_024529.4(CDC73):c.-95G>A http://identifiers.org/clinvar/294458 ^@ NM_024529.4(CDC73):c.*3086C>T http://identifiers.org/clinvar/294508 ^@ NM_000186.3(CFH):c.2784C>A (p.Gly928=) http://identifiers.org/clinvar/293558 ^@ NM_000130.4(F5):c.*762G>A http://identifiers.org/clinvar/294608 ^@ NM_018136.4(ASPM):c.7976G>A (p.Arg2659Lys) http://identifiers.org/clinvar/294658 ^@ NM_018136.4(ASPM):c.17T>C (p.Val6Ala) http://identifiers.org/clinvar/293758 ^@ NM_022089.3(ATP13A2):c.*251A>G http://identifiers.org/clinvar/293808 ^@ NM_003000.2(SDHB):c.*102A>G http://identifiers.org/clinvar/293658 ^@ NM_152281.2(GORAB):c.701G>A (p.Arg234Gln) http://identifiers.org/clinvar/293858 ^@ NM_033343.3(LHX4):c.63T>C (p.Gly21=) http://identifiers.org/clinvar/293958 ^@ NM_002065.6(GLUL):c.-291T>C http://identifiers.org/clinvar/336203 ^@ NM_000341.3(SLC3A1):c.1269C>T (p.Ser423=) http://identifiers.org/clinvar/336253 ^@ NM_001430.4(EPAS1):c.858C>T (p.Ser286=) http://identifiers.org/clinvar/343600 ^@ NM_001184.3(ATR):c.5572T>C (p.Cys1858Arg) http://identifiers.org/clinvar/343650 ^@ NM_000935.2(PLOD2):c.471G>A (p.Val157=) http://identifiers.org/clinvar/344839 ^@ NM_006371.4(CRTAP):c.*1564A>G http://identifiers.org/clinvar/345239 ^@ NM_016006.4(ABHD5):c.*1371A>G http://identifiers.org/clinvar/345339 ^@ NM_002222.5(ITPR1):c.66G>A (p.Ser22=) http://identifiers.org/clinvar/345439 ^@ NM_024513.3(FYCO1):c.*3498A>G http://identifiers.org/clinvar/344589 ^@ NM_000461.4(THRB):c.*2616T>G http://identifiers.org/clinvar/345489 ^@ NM_024513.3(FYCO1):c.*191G>A http://identifiers.org/clinvar/344689 ^@ NM_003242.5(TGFBR2):c.*989G>A http://identifiers.org/clinvar/344739 ^@ NM_015141.3(GPD1L):c.*505T>C http://identifiers.org/clinvar/345639 ^@ NM_015175.2(NBEAL2):c.2445G>A (p.Ala815=) http://identifiers.org/clinvar/345689 ^@ NM_015175.2(NBEAL2):c.7248G>A (p.Leu2416=) http://identifiers.org/clinvar/345739 ^@ NM_002222.5(ITPR1):c.4597G>T (p.Ala1533Ser) http://identifiers.org/clinvar/344889 ^@ NM_006371.4(CRTAP):c.*4705G>A http://identifiers.org/clinvar/345789 ^@ NM_000094.3(COL7A1):c.*40A>T http://identifiers.org/clinvar/345839 ^@ NM_000094.3(COL7A1):c.5154+5T>C http://identifiers.org/clinvar/345289 ^@ NM_182760.3(SUMF1):c.*874C>T http://identifiers.org/clinvar/342600 ^@ NM_000796.5(DRD3):c.383+7C>T http://identifiers.org/clinvar/342750 ^@ NM_000187.3(HGD):c.343-11G>A http://identifiers.org/clinvar/342650 ^@ NM_020754.3(ARHGAP31):c.1823C>T (p.Pro608Leu) http://identifiers.org/clinvar/345889 ^@ NM_000094.3(COL7A1):c.266+2T>C http://identifiers.org/clinvar/347278 ^@ NM_001963.5(EGF):c.*925_*926delTT http://identifiers.org/clinvar/347578 ^@ NM_031296.2(RAB33B):c.*764G>A http://identifiers.org/clinvar/342900 ^@ NM_053025.3(MYLK):c.859A>G (p.Ser287Gly) http://identifiers.org/clinvar/343050 ^@ NM_015869.4(PPARG):c.1452C>T (p.Ile484=) http://identifiers.org/clinvar/347878 ^@ NM_004744.4(LRAT):c.*2625A>G http://identifiers.org/clinvar/343350 ^@ NM_014382.3(ATP2C1):c.*1820A>G http://identifiers.org/clinvar/343450 ^@ NM_001063.3(TF):c.1805C>A (p.Pro602Gln) http://identifiers.org/clinvar/347928 ^@ NM_000824.4(GLRB):c.1368_1370delCAA (p.Asn456del) http://identifiers.org/clinvar/343250 ^@ NM_052985.3(IFT122):c.2307C>T (p.His769=) http://identifiers.org/clinvar/347978 ^@ NM_006017.2(PROM1):c.2309C>A (p.Pro770His) http://identifiers.org/clinvar/348278 ^@ NM_001151.3(SLC25A4):c.*2713G>A http://identifiers.org/clinvar/343550 ^@ NM_004628.4(XPC):c.*684G>C http://identifiers.org/clinvar/353966 ^@ NM_001104631.1(PDE4D):c.*1278C>T http://identifiers.org/clinvar/354016 ^@ NM_000082.3(ERCC8):c.551-10G>T http://identifiers.org/clinvar/353666 ^@ NM_000436.3(OXCT1):c.518A>G (p.Lys173Arg) http://identifiers.org/clinvar/354066 ^@ NM_017755.5(NSUN2):c.-73C>T http://identifiers.org/clinvar/354116 ^@ NM_022132.4(MCCC2):c.*725C>T http://identifiers.org/clinvar/353916 ^@ NM_001104631.1(PDE4D):c.*4965G>T http://identifiers.org/clinvar/358495 ^@ NM_000441.1(SLC26A4):c.601-5C>T http://identifiers.org/clinvar/354755 ^@ NM_020381.3(PDSS2):c.*835T>C http://identifiers.org/clinvar/354855 ^@ NM_007214.4(SEC63):c.*1936delC http://identifiers.org/clinvar/354805 ^@ NM_001242957.2(MAK):c.359-13G>A http://identifiers.org/clinvar/354905 ^@ NM_007214.4(SEC63):c.1278C>T (p.Phe426=) http://identifiers.org/clinvar/355055 ^@ NM_003880.3(WISP3):c.48+13C>T http://identifiers.org/clinvar/354955 ^@ NM_014028.3(OSTM1):c.*1634A>G http://identifiers.org/clinvar/355005 ^@ NM_004752.3(GCM2):c.*50G>A http://identifiers.org/clinvar/355306 ^@ NM_000426.3(LAMA2):c.9240C>A (p.Thr3080=) http://identifiers.org/clinvar/355556 ^@ NM_000416.2(IFNGR1):c.711C>T (p.Thr237=) http://identifiers.org/clinvar/355606 ^@ NM_003764.3(STX11):c.*70G>A http://identifiers.org/clinvar/355406 ^@ NM_006208.2(ENPP1):c.*2698G>A http://identifiers.org/clinvar/361084 ^@ NM_017890.4(VPS13B):c.9859G>A (p.Glu3287Lys) http://identifiers.org/clinvar/355706 ^@ NM_203395.2(IYD):c.*845C>T http://identifiers.org/clinvar/355506 ^@ NM_017651.4(AHI1):c.1788T>C (p.Arg596=) http://identifiers.org/clinvar/360184 ^@ NM_000168.5(GLI3):c.*1623A>G http://identifiers.org/clinvar/355756 ^@ NM_203395.2(IYD):c.*3804C>T http://identifiers.org/clinvar/355906 ^@ NM_033071.3(SYNE1):c.7734-12_7734-11delCCinsTTTTTTTCT http://identifiers.org/clinvar/356056 ^@ NM_198586.2(NHLRC1):c.*875T>C http://identifiers.org/clinvar/356106 ^@ NM_000367.4(TPMT):c.*514C>T http://identifiers.org/clinvar/360634 ^@ NM_000501.3(ELN):c.163+13A>G http://identifiers.org/clinvar/360734 ^@ NM_001540.3(HSPB1):c.-122G>T http://identifiers.org/clinvar/356206 ^@ NM_000410.3(HFE):c.*871C>T http://identifiers.org/clinvar/365332 ^@ NM_015046.5(SETX):c.*431_*432delGA http://identifiers.org/clinvar/365432 ^@ NM_000368.4(TSC1):c.*2897A>G http://identifiers.org/clinvar/361234 ^@ NM_178857.5(RP1L1):c.5966C>T (p.Ala1989Val) http://identifiers.org/clinvar/365582 ^@ NM_014694.3(ADAMTSL2):c.840A>T (p.Ala280=) http://identifiers.org/clinvar/361334 ^@ NM_178857.5(RP1L1):c.2780C>A (p.Thr927Asn) http://identifiers.org/clinvar/366083 ^@ NM_144966.5(FREM1):c.*1031G>T http://identifiers.org/clinvar/366283 ^@ NM_002451.3(MTAP):c.*1643G>T http://identifiers.org/clinvar/311123 ^@ NM_001846.3(COL4A2):c.1308C>T (p.Pro436=) http://identifiers.org/clinvar/311173 ^@ NM_001846.3(COL4A2):c.4146C>T (p.Pro1382=) http://identifiers.org/clinvar/367312 ^@ NM_017662.4(TRPM6):c.2517T>C (p.Ile839=) http://identifiers.org/clinvar/366833 ^@ NM_005476.5(GNE):c.*691A>T http://identifiers.org/clinvar/367362 ^@ NM_033305.2(VPS13A):c.2170+13T>C http://identifiers.org/clinvar/367133 ^@ NM_004972.3(JAK2):c.2958C>T (p.Asn986=) http://identifiers.org/clinvar/367183 ^@ NM_000170.2(GLDC):c.2147T>A (p.Leu716His) http://identifiers.org/clinvar/304074 ^@ NM_000360.3(TH):c.897C>T (p.Phe299=) http://identifiers.org/clinvar/304124 ^@ NM_213599.2(ANO5):c.*811A>G http://identifiers.org/clinvar/312262 ^@ NM_003850.2(SUCLA2):c.*217T>C http://identifiers.org/clinvar/312312 ^@ NM_000321.2(RB1):c.*998G>A http://identifiers.org/clinvar/298636 ^@ NM_017649.4(CNNM2):c.210G>A (p.Glu70=) http://identifiers.org/clinvar/312462 ^@ NM_000115.4(EDNRB):c.*1131T>C http://identifiers.org/clinvar/312662 ^@ NM_001376.4(DYNC1H1):c.13203C>T (p.Thr4401=) http://identifiers.org/clinvar/298836 ^@ NM_001134363.2(RBM20):c.*1866C>T http://identifiers.org/clinvar/312812 ^@ NM_001126106.2(SLC7A7):c.1380C>G (p.Ile460Met) http://identifiers.org/clinvar/312862 ^@ NM_002471.3(MYH6):c.3569C>T (p.Thr1190Ile) http://identifiers.org/clinvar/298936 ^@ NM_004132.4(HABP2):c.*823C>T http://identifiers.org/clinvar/313062 ^@ NM_025152.2(NUBPL):c.*1151G>A http://identifiers.org/clinvar/313112 ^@ NM_020529.2(NFKBIA):c.548-3C>T http://identifiers.org/clinvar/304574 ^@ NM_207122.1(EXT2):c.205G>A (p.Val69Ile) http://identifiers.org/clinvar/299086 ^@ NM_001609.3(ACADSB):c.1170G>T (p.Gly390=) http://identifiers.org/clinvar/304624 ^@ NM_021926.3(ALX4):c.*3081C>T http://identifiers.org/clinvar/299136 ^@ NM_001609.3(ACADSB):c.*2548G>T http://identifiers.org/clinvar/299236 ^@ NM_021980.4(OPTN):c.*1251C>G http://identifiers.org/clinvar/298886 ^@ NM_007373.3(SHOC2):c.*1503A>G http://identifiers.org/clinvar/304874 ^@ NM_002334.3(LRP4):c.3022A>G (p.Met1008Val) http://identifiers.org/clinvar/305074 ^@ NM_001173990.2(TMEM216):c.-128A>C http://identifiers.org/clinvar/299536 ^@ NM_001081.3(CUBN):c.827C>T (p.Thr276Ile) http://identifiers.org/clinvar/305226 ^@ NM_144585.3(SLC22A12):c.-93C>T http://identifiers.org/clinvar/305276 ^@ NM_005609.3(PYGM):c.1011G>A (p.Gln337=) http://identifiers.org/clinvar/305326 ^@ NM_032193.3(RNASEH2C):c.*1806G>A http://identifiers.org/clinvar/299336 ^@ NM_001081.3(CUBN):c.*420C>T http://identifiers.org/clinvar/299936 ^@ NM_020975.4(RET):c.*1583G>A http://identifiers.org/clinvar/299486 ^@ NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) http://identifiers.org/clinvar/305726 ^@ NM_003977.3(AIP):c.301G>A (p.Val101Met) http://identifiers.org/clinvar/305776 ^@ NM_002496.3(NDUFS8):c.*40A>G http://identifiers.org/clinvar/306089 ^@ NM_006755.1(TALDO1):c.78C>G (p.Ala26=) http://identifiers.org/clinvar/299886 ^@ NM_020975.4(RET):c.220G>A (p.Gly74Ser) http://identifiers.org/clinvar/306239 ^@ NM_024698.5(SLC25A22):c.*906G>A http://identifiers.org/clinvar/306289 ^@ NM_020376.3(PNPLA2):c.-145-11C>T http://identifiers.org/clinvar/306390 ^@ NM_012193.3(FZD4):c.*799A>G http://identifiers.org/clinvar/315861 ^@ NM_144508.4(KNL1):c.4393G>T (p.Val1465Leu) http://identifiers.org/clinvar/315911 ^@ NM_138477.2(CDAN1):c.*463_*465delCTT http://identifiers.org/clinvar/328984 ^@ NM_033064.4(ATCAY):c.36C>T (p.Asn12=) http://identifiers.org/clinvar/329184 ^@ NM_033064.4(ATCAY):c.*1540C>A http://identifiers.org/clinvar/311073 ^@ NM_001845.5(COL4A1):c.708C>G (p.Val236=) http://identifiers.org/clinvar/329334 ^@ NM_003573.2(LTBP4):c.*185_*187delCGT http://identifiers.org/clinvar/329384 ^@ NM_001022.3(RPS19):c.-146_-145insGCCA http://identifiers.org/clinvar/329434 ^@ NM_152296.4(ATP1A3):c.6+3A>G http://identifiers.org/clinvar/329484 ^@ NM_212550.4(BLOC1S3):c.*426C>G http://identifiers.org/clinvar/317951 ^@ NM_001287.5(CLCN7):c.1098+15C>T http://identifiers.org/clinvar/311323 ^@ NM_021954.3(GJA3):c.*491T>A http://identifiers.org/clinvar/311373 ^@ NM_006783.4(GJB6):c.*714C>T http://identifiers.org/clinvar/318001 ^@ NM_014714.3(IFT140):c.3684C>T (p.Ser1228=) http://identifiers.org/clinvar/329734 ^@ NM_000554.5(CRX):c.*1063C>T http://identifiers.org/clinvar/310068 ^@ NM_000552.4(VWF):c.3719C>T (p.Pro1240Leu) http://identifiers.org/clinvar/318403 ^@ NM_001089.2(ABCA3):c.3984G>T (p.Leu1328=) http://identifiers.org/clinvar/318503 ^@ NM_001089.2(ABCA3):c.1750C>T (p.Pro584Ser) http://identifiers.org/clinvar/330084 ^@ NM_002739.4(PRKCG):c.*670T>C http://identifiers.org/clinvar/330134 ^@ NM_024075.4(TSEN34):c.*245A>C http://identifiers.org/clinvar/318603 ^@ NM_001089.2(ABCA3):c.-671T>A http://identifiers.org/clinvar/310318 ^@ NM_021150.3(GRIP1):c.-172A>G http://identifiers.org/clinvar/318553 ^@ NM_001083614.1(EARS2):c.580G>A (p.Val194Met) http://identifiers.org/clinvar/318653 ^@ NM_020705.2(TBC1D24):c.*1808C>T http://identifiers.org/clinvar/318703 ^@ NM_020705.2(TBC1D24):c.*4340C>G http://identifiers.org/clinvar/318753 ^@ NM_003321.4(TUFM):c.519+15G>A http://identifiers.org/clinvar/310518 ^@ NM_018979.3(WNK1):c.-598C>G http://identifiers.org/clinvar/312062 ^@ NM_207361.5(FREM2):c.*1890T>C http://identifiers.org/clinvar/318853 ^@ NM_006662.2(SRCAP):c.284A>C (p.Glu95Ala) http://identifiers.org/clinvar/312112 ^@ NM_207361.5(FREM2):c.*5689C>T http://identifiers.org/clinvar/312162 ^@ NM_020751.2(COG6):c.*1210A>G http://identifiers.org/clinvar/319003 ^@ NM_004960.3(FUS):c.*687G>A http://identifiers.org/clinvar/312212 ^@ NM_014252.3(SLC25A15):c.*2071C>T http://identifiers.org/clinvar/319103 ^@ NM_000243.2(MEFV):c.*292C>G http://identifiers.org/clinvar/312412 ^@ NM_001004127.2(ALG11):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/312562 ^@ NM_005708.4(GPC6):c.*334delT http://identifiers.org/clinvar/319654 ^@ NM_015272.4(RPGRIP1L):c.2926T>A (p.Ser976Thr) http://identifiers.org/clinvar/311223 ^@ NM_000131.4(F7):c.285G>A (p.Glu95=) http://identifiers.org/clinvar/312962 ^@ NM_001099274.1(TINF2):c.-172A>C http://identifiers.org/clinvar/313012 ^@ NM_004086.2(COCH):c.*488_*490delATA http://identifiers.org/clinvar/320693 ^@ NM_022041.3(GAN):c.*1455dupT http://identifiers.org/clinvar/320843 ^@ NM_020686.5(ABAT):c.169-5T>C http://identifiers.org/clinvar/320943 ^@ NM_001127464.2(ZNF469):c.5577C>G (p.Thr1859=) http://identifiers.org/clinvar/321043 ^@ NM_001127464.2(ZNF469):c.*491T>C http://identifiers.org/clinvar/321443 ^@ NM_002386.3(MC1R):c.*113_*114delAA http://identifiers.org/clinvar/312362 ^@ NM_000053.3(ATP7B):c.*1009G>A http://identifiers.org/clinvar/321647 ^@ NM_002472.2(MYH8):c.1416+11T>G http://identifiers.org/clinvar/312512 ^@ NM_052910.2(SLITRK1):c.-244delC http://identifiers.org/clinvar/340310 ^@ NM_001848.2(COL6A1):c.930+13C>T http://identifiers.org/clinvar/342250 ^@ NM_000487.5(ARSA):c.-355G>T http://identifiers.org/clinvar/367951 ^@ NM_004840.2(ARHGEF6):c.-324T>C http://identifiers.org/clinvar/328934 ^@ NM_001083961.1(WDR62):c.4329G>A (p.Gln1443=) http://identifiers.org/clinvar/368201 ^@ NM_004006.2(DMD):c.*2234_*2237dupAAGT http://identifiers.org/clinvar/329034 ^@ NM_000540.2(RYR1):c.5025G>C (p.Leu1675=) http://identifiers.org/clinvar/329134 ^@ NM_000540.2(RYR1):c.14129+10C>A http://identifiers.org/clinvar/368451 ^@ NM_005710.2(PQBP1):c.-214A>G http://identifiers.org/clinvar/368601 ^@ NM_000032.4(ALAS2):c.-34C>T http://identifiers.org/clinvar/368701 ^@ NM_153252.4(BRWD3):c.*3787T>C http://identifiers.org/clinvar/329634 ^@ NM_025136.3(OPA3):c.*2714C>T http://identifiers.org/clinvar/329834 ^@ NM_002103.4(GYS1):c.-157C>T http://identifiers.org/clinvar/328434 ^@ NM_173483.3(CYP4F22):c.672-9C>T http://identifiers.org/clinvar/328534 ^@ NM_000453.2(SLC5A5):c.330C>T (p.Tyr110=) http://identifiers.org/clinvar/329084 ^@ NM_000540.2(RYR1):c.9091G>A (p.Ala3031Thr) http://identifiers.org/clinvar/329234 ^@ NM_016941.3(DLL3):c.779C>A (p.Pro260His) http://identifiers.org/clinvar/329284 ^@ NM_181882.2(PRX):c.554G>A (p.Arg185His) http://identifiers.org/clinvar/329584 ^@ NM_025136.3(OPA3):c.*5525C>T http://identifiers.org/clinvar/329684 ^@ NM_025136.3(OPA3):c.*50_*52delTGG http://identifiers.org/clinvar/329784 ^@ NM_000146.3(FTL):c.-92T>C http://identifiers.org/clinvar/329884 ^@ NM_030973.3(MED25):c.1482+13C>A http://identifiers.org/clinvar/340360 ^@ NM_001849.3(COL6A2):c.537G>A (p.Arg179=) http://identifiers.org/clinvar/340460 ^@ NM_006031.5(PCNT):c.445A>G (p.Ser149Gly) http://identifiers.org/clinvar/340561 ^@ NM_014339.6(IL17RA):c.-8G>C http://identifiers.org/clinvar/340961 ^@ NM_004076.4(CRYBB3):c.*143C>T http://identifiers.org/clinvar/341211 ^@ NM_000355.3(TCN2):c.1043C>T (p.Ser348Phe) http://identifiers.org/clinvar/388691 ^@ NM_001458.4(FLNC):c.7281G>A (p.Ala2427=) http://identifiers.org/clinvar/386452 ^@ NM_020822.2(KCNT1):c.146C>G (p.Thr49Ser) http://identifiers.org/clinvar/380616 ^@ NM_001613.2(ACTA2):c.807C>T (p.Ile269=) http://identifiers.org/clinvar/381468 ^@ NM_000264.3(PTCH1):c.4179C>A (p.Pro1393=) http://identifiers.org/clinvar/388841 ^@ NM_012229.4(NT5C2):c.771+18A>T http://identifiers.org/clinvar/378472 ^@ NM_001134363.2(RBM20):c.1378T>C (p.Leu460=) http://identifiers.org/clinvar/378015 ^@ NM_000218.2(KCNQ1):c.612C>T (p.Ile204=) http://identifiers.org/clinvar/381368 ^@ NM_000218.2(KCNQ1):c.1795-17T>C http://identifiers.org/clinvar/380516 ^@ NM_000443.3(ABCB4):c.456G>A (p.Lys152=) http://identifiers.org/clinvar/383010 ^@ NM_000445.4(PLEC):c.11719G>A (p.Ala3907Thr) http://identifiers.org/clinvar/386152 ^@ NM_000051.3(ATM):c.3284+7G>C http://identifiers.org/clinvar/381018 ^@ NM_000742.3(CHRNA2):c.225C>A (p.Arg75=) http://identifiers.org/clinvar/377965 ^@ NM_000545.6(HNF1A):c.511C>T (p.Arg171Ter) http://identifiers.org/clinvar/379764 ^@ NM_006904.6(PRKDC):c.3759G>A (p.Thr1253=) http://identifiers.org/clinvar/389241 ^@ NM_006231.3(POLE):c.5595C>T (p.Tyr1865=) http://identifiers.org/clinvar/382710 ^@ NM_006231.3(POLE):c.4449T>C (p.Ser1483=) http://identifiers.org/clinvar/380165 ^@ NM_024740.2(ALG9):c.132-11C>T http://identifiers.org/clinvar/380015 ^@ NM_001278503.1(STT3A):c.996G>A (p.Ser332=) http://identifiers.org/clinvar/379915 ^@ NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) http://identifiers.org/clinvar/386252 ^@ NM_001130438.2(SPTAN1):c.652-5T>C http://identifiers.org/clinvar/378573 ^@ NM_000062.2(SERPING1):c.871A>C (p.Asn291His) http://identifiers.org/clinvar/388941 ^@ NM_139241.3(FGD4):c.1761+8A>T http://identifiers.org/clinvar/384162 ^@ NM_001130438.2(SPTAN1):c.4551T>C (p.Tyr1517=) http://identifiers.org/clinvar/378067 ^@ NM_006059.3(LAMC3):c.1939+11A>G http://identifiers.org/clinvar/379664 ^@ NM_000368.4(TSC1):c.3129C>T (p.Ser1043=) http://identifiers.org/clinvar/387502 ^@ NM_014191.3(SCN8A):c.3643C>T (p.Leu1215=) http://identifiers.org/clinvar/378217 ^@ NM_000432.3(MYL2):c.222G>A (p.Pro74=) http://identifiers.org/clinvar/380968 ^@ NM_002496.3(NDUFS8):c.199+15T>A http://identifiers.org/clinvar/389091 ^@ NM_001845.5(COL4A1):c.3208G>A (p.Gly1070Arg) http://identifiers.org/clinvar/381068 ^@ NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) http://identifiers.org/clinvar/388791 ^@ NM_020822.2(KCNT1):c.2350-5C>T http://identifiers.org/clinvar/385902 ^@ NM_024698.5(SLC25A22):c.888G>A (p.Ala296=) http://identifiers.org/clinvar/384362 ^@ NM_006231.3(POLE):c.1474-14G>T http://identifiers.org/clinvar/380817 ^@ NM_007327.3(GRIN1):c.394-11G>A http://identifiers.org/clinvar/378422 ^@ NM_153026.2(PRICKLE1):c.1176T>C (p.Phe392=) http://identifiers.org/clinvar/380466 ^@ NM_153026.2(PRICKLE1):c.775+19C>T http://identifiers.org/clinvar/389741 ^@ NM_004990.3(MARS):c.1360C>T (p.Leu454=) http://identifiers.org/clinvar/384563 ^@ NM_024537.3(CARS2):c.1318-18C>T http://identifiers.org/clinvar/383210 ^@ NM_014000.2(VCL):c.1092A>G (p.Thr364=) http://identifiers.org/clinvar/384062 ^@ NM_000059.3(BRCA2):c.-51C>T http://identifiers.org/clinvar/388491 ^@ NM_005477.2(HCN4):c.2838C>T (p.Pro946=) http://identifiers.org/clinvar/386902 ^@ NM_000059.3(BRCA2):c.8715T>C (p.Tyr2905=) http://identifiers.org/clinvar/381518 ^@ NM_002693.2(POLG):c.2165G>A (p.Arg722His) http://identifiers.org/clinvar/384212 ^@ NM_194279.3(ISCA2):c.-20G>A http://identifiers.org/clinvar/378875 ^@ NM_005188.3(CBL):c.1484C>T (p.Pro495Leu) http://identifiers.org/clinvar/386002 ^@ NM_001143979.1(NDE1):c.624C>T (p.Ala208=) http://identifiers.org/clinvar/382359 ^@ NM_000138.4(FBN1):c.4824T>C (p.Asp1608=) http://identifiers.org/clinvar/389041 ^@ NM_000138.4(FBN1):c.2810G>A (p.Cys937Tyr) http://identifiers.org/clinvar/389291 ^@ NM_005477.2(HCN4):c.2465C>T (p.Thr822Met) http://identifiers.org/clinvar/384963 ^@ NM_004360.4(CDH1):c.1371G>A (p.Thr457=) http://identifiers.org/clinvar/377915 ^@ NM_001482.2(GATM):c.852T>C (p.His284=) http://identifiers.org/clinvar/380215 ^@ NM_006231.3(POLE):c.4187A>G (p.Asn1396Ser) http://identifiers.org/clinvar/382509 ^@ NM_006231.3(POLE):c.594C>T (p.Gly198=) http://identifiers.org/clinvar/47667 ^@ NM_133378.4(TTN):c.96547G>C (p.Ala32183Pro) http://identifiers.org/clinvar/47717 ^@ NM_001256850.1(TTN):c.102032G>A (p.Arg34011Gln) http://identifiers.org/clinvar/47767 ^@ NM_133378.4(TTN):c.10360+4708A>G http://identifiers.org/clinvar/47817 ^@ NM_133378.4(TTN):c.10361-2728C>T http://identifiers.org/clinvar/47867 ^@ NM_138691.2(TMC1):c.2068G>A (p.Ala690Thr) http://identifiers.org/clinvar/47917 ^@ NM_144612.6(LOXHD1):c.1469G>A (p.Arg490Gln) http://identifiers.org/clinvar/47967 ^@ NM_152594.2(SPRED1):c.26A>T (p.Asp9Val) http://identifiers.org/clinvar/48019 ^@ NM_005709.3(USH1C):c.582C>T (p.Gly194=) http://identifiers.org/clinvar/48069 ^@ NM_005572.3(LMNA):c.513+1G>C http://identifiers.org/clinvar/48119 ^@ NM_000337.5(SGCD):c.393C>T (p.Ala131=) http://identifiers.org/clinvar/48169 ^@ NM_194248.2(OTOF):c.145C>T (p.Arg49Trp) http://identifiers.org/clinvar/48219 ^@ NM_194248.2(OTOF):c.3608A>G (p.Asn1203Ser) http://identifiers.org/clinvar/48269 ^@ NM_194248.2(OTOF):c.5742G>A (p.Leu1914=) http://identifiers.org/clinvar/48320 ^@ NM_201555.1(FHL2):c.120C>T (p.Cys40=) http://identifiers.org/clinvar/48370 ^@ NM_206933.2(USH2A):c.11263G>C (p.Gly3755Arg) http://identifiers.org/clinvar/48420 ^@ NM_206933.2(USH2A):c.13622A>C (p.Gln4541Pro) http://identifiers.org/clinvar/48470 ^@ NM_206933.2(USH2A):c.1590A>T (p.Thr530=) http://identifiers.org/clinvar/48522 ^@ NM_206933.2(USH2A):c.478G>A (p.Gly160Ser) http://identifiers.org/clinvar/13 ^@ NM_000410.3(HFE):c.277G>C (p.Gly93Arg) http://identifiers.org/clinvar/28 ^@ NM_144631.5(ZNF513):c.1015T>C (p.Cys339Arg) http://identifiers.org/clinvar/322 ^@ NM_012338.3(TSPAN12):c.419T>A (p.Leu140Ter) http://identifiers.org/clinvar/441 ^@ BCAM, EX3-4DEL http://identifiers.org/clinvar/491 ^@ NM_000320.2(QDPR):c.322T>G (p.Trp108Gly) http://identifiers.org/clinvar/500 ^@ NM_173560.3(RFX6):c.542G>A (p.Arg181Gln) http://identifiers.org/clinvar/1070 ^@ NM_001127897.3(RPGRIP1L):c.757C>T (p.Gln253Ter) http://identifiers.org/clinvar/1159 ^@ NM_001166686.1(PFKM):c.2271G>T (p.Trp757Cys) http://identifiers.org/clinvar/1203 ^@ NM_000429.2(MAT1A):c.164C>A (p.Ala55Asp) http://identifiers.org/clinvar/1254 ^@ NM_022356.3(P3H1):c.1473+1G>T http://identifiers.org/clinvar/1344 ^@ CEP290, 1-BP DEL, 5489A http://identifiers.org/clinvar/1435 ^@ NG_017008.1:g.8561_8645del85 http://identifiers.org/clinvar/1480 ^@ HMBS, ALU INS http://identifiers.org/clinvar/1526 ^@ LPL, IVS2DS, G-A http://identifiers.org/clinvar/1571 ^@ NM_000263.3(NAGLU):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/1616 ^@ NM_014780.4(CUL7):c.4581dupT (p.Arg1528Serfs) http://identifiers.org/clinvar/1666 ^@ NM_000785.3(CYP27B1):c.962C>G (p.Thr321Arg) http://identifiers.org/clinvar/1710 ^@ ERCC6, 1-BP INS, 1034T http://identifiers.org/clinvar/1758 ^@ NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) http://identifiers.org/clinvar/2340 ^@ NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) http://identifiers.org/clinvar/2387 ^@ ARG1, 1-BP DEL http://identifiers.org/clinvar/2431 ^@ NM_153006.2(NAGS):c.835G>A (p.Ala279Thr) http://identifiers.org/clinvar/2477 ^@ NM_000401.3(EXT2):c.843-2A>C http://identifiers.org/clinvar/2523 ^@ NM_144599.4(NIPA1):c.316G>A (p.Gly106Arg) http://identifiers.org/clinvar/2570 ^@ NM_006493.2(CLN5):c.1121A>G (p.Tyr374Cys) http://identifiers.org/clinvar/2616 ^@ NM_000049.2(ASPA):c.212G>A (p.Arg71His) http://identifiers.org/clinvar/2662 ^@ NM_198428.2(BBS9):c.1877_1880delAACA (p.Lys626Argfs) http://identifiers.org/clinvar/2709 ^@ NM_178443.2(FERMT3):c.48G>A (p.Trp16Ter) http://identifiers.org/clinvar/2754 ^@ LEMD3, 1-BP DUP, 1185T http://identifiers.org/clinvar/2844 ^@ NM_000019.3(ACAT1):c.935T>C (p.Ile312Thr) http://identifiers.org/clinvar/2890 ^@ ITGA2B, 4.5-KB DEL, EX2-9 http://identifiers.org/clinvar/2935 ^@ NM_002076.3(GNS):c.1138_1139insGTCCT (p.Asp380Glyfs) http://identifiers.org/clinvar/2980 ^@ NM_000543.4(SMPD1):c.1493G>T (p.Arg498Leu) http://identifiers.org/clinvar/3026 ^@ NM_000051.3(ATM):c.5044G>C (p.Asp1682His) http://identifiers.org/clinvar/3075 ^@ NM_000487.5(ARSA):c.827C>T (p.Thr276Met) http://identifiers.org/clinvar/3122 ^@ NM_000218.2(KCNQ1):c.1034G>A (p.Gly345Glu) http://identifiers.org/clinvar/3175 ^@ NM_000187.3(HGD):c.808G>A (p.Gly270Arg) http://identifiers.org/clinvar/3269 ^@ CDC73, 41-BP DUP/INS http://identifiers.org/clinvar/3313 ^@ NM_000383.3(AIRE):c.682G>T (p.Gly228Trp) http://identifiers.org/clinvar/10193 ^@ NM_000132.3(F8):c.902G>T (p.Arg301Leu) http://identifiers.org/clinvar/10238 ^@ F8, IVS12DS, G-A, +5 http://identifiers.org/clinvar/10283 ^@ NM_000132.3(F8):c.5479A>T (p.Lys1827Ter) http://identifiers.org/clinvar/10328 ^@ NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) http://identifiers.org/clinvar/10375 ^@ NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) http://identifiers.org/clinvar/10425 ^@ NM_002049.3(GATA1):c.622_623delGGinsTC (p.Gly208Ser) http://identifiers.org/clinvar/10473 ^@ NM_000032.4(ALAS2):c.514G>A (p.Ala172Thr) http://identifiers.org/clinvar/10609 ^@ NM_000133.3(F9):c.1064G>T (p.Gly355Val) http://identifiers.org/clinvar/10654 ^@ F9, ALU INSERTION, EX5 http://identifiers.org/clinvar/10745 ^@ NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) http://identifiers.org/clinvar/10790 ^@ FRMD7, 2-BP DEL, 1274TG http://identifiers.org/clinvar/10835 ^@ AVPR2, 1-BP DEL, 733G http://identifiers.org/clinvar/10880 ^@ NM_000284.3(PDHA1):c.1142_1145dupATCA (p.Trp383Serfs) http://identifiers.org/clinvar/10926 ^@ NM_000397.3(CYBB):c.302A>G (p.His101Arg) http://identifiers.org/clinvar/10972 ^@ NR0B1, 1-BP INS, 430G http://identifiers.org/clinvar/11016 ^@ NM_001184880.1(PCDH19):c.1322T>A (p.Val441Glu) http://identifiers.org/clinvar/11061 ^@ NM_000252.2(MTM1):c.605delT (p.Leu202Trpfs) http://identifiers.org/clinvar/11106 ^@ TAZ, IVS1DS, G-C, +5 http://identifiers.org/clinvar/11151 ^@ CHM, 1-BP DEL, GGA146GA, FS159TER http://identifiers.org/clinvar/11198 ^@ NM_139058.2(ARX):c.98T>C (p.Leu33Pro) http://identifiers.org/clinvar/11242 ^@ NM_000109.3(DMD):c.700C>T (p.Gln234Ter) http://identifiers.org/clinvar/11288 ^@ NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) http://identifiers.org/clinvar/11332 ^@ TBX22, 1-BP DEL, 671C http://identifiers.org/clinvar/11379 ^@ BTK, 1-BP DEL, 1720A http://identifiers.org/clinvar/11437 ^@ NM_003413.3(ZIC3):c.758G>C (p.Cys253Ser) http://identifiers.org/clinvar/11488 ^@ EBP, 1-BP INS, 586A http://identifiers.org/clinvar/11539 ^@ OFD1, 19-BP DEL, NT294 http://identifiers.org/clinvar/11589 ^@ DKC1, -141C-G http://identifiers.org/clinvar/11639 ^@ NM_006517.4(SLC16A2):c.1079T>G (p.Leu360Trp) http://identifiers.org/clinvar/11690 ^@ NM_004484.3(GPC3):c.361C>T (p.His121Tyr) http://identifiers.org/clinvar/11741 ^@ NM_000489.4(ATRX):c.236C>G (p.Ser79Ter) http://identifiers.org/clinvar/11792 ^@ NM_000052.6(ATP7A):c.3911A>G (p.Asn1304Ser) http://identifiers.org/clinvar/11842 ^@ MECP2, 32-BP DEL, NT1154 http://identifiers.org/clinvar/11892 ^@ NM_000128.3(F11):c.901T>C (p.Phe301Leu) http://identifiers.org/clinvar/11942 ^@ NM_001918.3:c.48_171del124 http://identifiers.org/clinvar/11993 ^@ NM_002863.4(PYGL):c.529-1G>C http://identifiers.org/clinvar/12044 ^@ NM_000136.2(FANCC):c.553C>T (p.Arg185Ter) http://identifiers.org/clinvar/12094 ^@ NM_000196.3(HSD11B2):c.637C>T (p.Arg213Cys) http://identifiers.org/clinvar/12144 ^@ NM_024649.4(BBS1):c.1645G>T (p.Glu549Ter) http://identifiers.org/clinvar/12198 ^@ NM_014000.2(VCL):c.829C>A (p.Leu277Met) http://identifiers.org/clinvar/12250 ^@ CDH1, 1-BP INS, 517A http://identifiers.org/clinvar/12301 ^@ NTRK1, IVSDS, A-C, +3 http://identifiers.org/clinvar/12352 ^@ NM_000546.5(TP53):c.747G>T (p.Arg249Ser) http://identifiers.org/clinvar/12403 ^@ NM_000548.4(TSC2):c.2714G>A (p.Arg905Gln) http://identifiers.org/clinvar/12455 ^@ NM_001018005.1(TPM1):c.539A>G (p.Glu180Gly) http://identifiers.org/clinvar/12505 ^@ NM_003242.5(TGFBR2):c.923T>C (p.Leu308Pro) http://identifiers.org/clinvar/12555 ^@ NM_001128177.1(THRB):c.947G>A (p.Arg316His) http://identifiers.org/clinvar/12606 ^@ NM_005343.3(HRAS):c.37G>T (p.Gly13Cys) http://identifiers.org/clinvar/12656 ^@ NM_001256850.1(TTN):c.160G>A (p.Val54Met) http://identifiers.org/clinvar/12707 ^@ NM_003276.2(TMPO):c.2068C>T (p.Arg690Cys) http://identifiers.org/clinvar/13561 ^@ NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln) http://identifiers.org/clinvar/36645 ^@ NM_000432.3(MYL2):c.359G>A (p.Arg120Gln) http://identifiers.org/clinvar/36697 ^@ NM_016203.3(PRKAG2):c.298G>A (p.Gly100Ser) http://identifiers.org/clinvar/36750 ^@ NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) http://identifiers.org/clinvar/36851 ^@ NM_000458.3(HNF1B):c.703C>T (p.Arg235Trp) http://identifiers.org/clinvar/36902 ^@ NM_000551.3(VHL):c.371C>T (p.Thr124Ile) http://identifiers.org/clinvar/36974 ^@ NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) http://identifiers.org/clinvar/37075 ^@ NM_001197104.1(KMT2A):c.4599dupT (p.Lys1534Terfs) http://identifiers.org/clinvar/37140 ^@ NM_022787.3(NMNAT1):c.25G>A (p.Val9Met) http://identifiers.org/clinvar/37291 ^@ NM_020921.3(NIN):c.5126A>G (p.Asn1709Ser) http://identifiers.org/clinvar/37376 ^@ NM_005732.3(RAD50):c.2821C>T (p.Gln941Ter) http://identifiers.org/clinvar/37427 ^@ NM_007294.3(BRCA1):c.1690A>T (p.Asn564Tyr) http://identifiers.org/clinvar/38157 ^@ NM_000059.3(BRCA2):c.8378G>A (p.Gly2793Glu) http://identifiers.org/clinvar/38207 ^@ NM_000059.3(BRCA2):c.9076C>T (p.Gln3026Ter) http://identifiers.org/clinvar/38257 ^@ NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) http://identifiers.org/clinvar/38319 ^@ NM_000168.5(GLI3):c.2628delC (p.Ser877Alafs) http://identifiers.org/clinvar/38376 ^@ NM_005211.3(CSF1R):c.2320-2A>G http://identifiers.org/clinvar/38431 ^@ NM_024312.4(GNPTAB):c.569A>T (p.Asp190Val) http://identifiers.org/clinvar/38759 ^@ NM_000495.4(COL4A5):c.1883C>T (p.Pro628Leu) http://identifiers.org/clinvar/38871 ^@ NM_000288.3(PEX7):c.-45C>T http://identifiers.org/clinvar/38933 ^@ NM_001363.4(DKC1):c.1075G>A (p.Asp359Asn) http://identifiers.org/clinvar/38984 ^@ NM_004614.4(TK2):c.334T>A (p.Tyr112Asn) http://identifiers.org/clinvar/39035 ^@ NM_024312.4(GNPTAB):c.1514G>A (p.Cys505Tyr) http://identifiers.org/clinvar/39085 ^@ NM_024312.4(GNPTAB):c.637-1G>A http://identifiers.org/clinvar/39142 ^@ NM_198578.3(LRRK2):c.1987T>C (p.Ser663Pro) http://identifiers.org/clinvar/39192 ^@ NM_198578.3(LRRK2):c.457T>C (p.Leu153=) http://identifiers.org/clinvar/39242 ^@ NM_198578.3(LRRK2):c.7468delC (p.Gln2490Asnfs) http://identifiers.org/clinvar/39293 ^@ NR_001566.1(TERC):n.37A>G http://identifiers.org/clinvar/39456 ^@ NM_001111.4(ADAR):c.2608G>A (p.Ala870Thr) http://identifiers.org/clinvar/39507 ^@ MEOX1, 1-BP DEL, 94G http://identifiers.org/clinvar/39557 ^@ NM_019032.5(ADAMTSL4):c.2008C>T (p.Arg670Ter) http://identifiers.org/clinvar/39608 ^@ SLC52A1, 1.9-KB DEL http://identifiers.org/clinvar/39659 ^@ NM_000834.3(GRIN2B):c.2172-2A>G http://identifiers.org/clinvar/39711 ^@ NM_018486.2(HDAC8):c.539A>G (p.His180Arg) http://identifiers.org/clinvar/39762 ^@ NM_172107.3(KCNQ2):c.869G>A (p.Gly290Asp) http://identifiers.org/clinvar/39812 ^@ NM_133497.3(KCNV2):c.491T>C (p.Phe164Ser) http://identifiers.org/clinvar/39863 ^@ NM_001845.5(COL4A1):c.1055C>T (p.Pro352Leu) http://identifiers.org/clinvar/40047 ^@ NM_004247.3(EFTUD2):c.623A>G (p.His208Arg) http://identifiers.org/clinvar/51147 ^@ NM_000059.3(BRCA2):c.158A>G (p.Lys53Arg) http://identifiers.org/clinvar/51855 ^@ NM_000059.3(BRCA2):c.53G>A (p.Arg18His) http://identifiers.org/clinvar/51906 ^@ NM_000059.3(BRCA2):c.5668A>G (p.Met1890Val) http://identifiers.org/clinvar/51958 ^@ NM_000059.3(BRCA2):c.587G>A (p.Ser196Asn) http://identifiers.org/clinvar/52010 ^@ NM_000059.3(BRCA2):c.6096dupT (p.Ile2033Tyrfs) http://identifiers.org/clinvar/52061 ^@ NM_000059.3(BRCA2):c.632-1G>C http://identifiers.org/clinvar/52115 ^@ NM_000059.3(BRCA2):c.6490delC (p.Gln2164Serfs) http://identifiers.org/clinvar/52166 ^@ NM_000059.3(BRCA2):c.6713A>G (p.Asp2238Gly) http://identifiers.org/clinvar/52216 ^@ NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) http://identifiers.org/clinvar/52368 ^@ NM_000059.3(BRCA2):c.7618-1G>C http://identifiers.org/clinvar/52419 ^@ NM_000059.3(BRCA2):c.7806-40A>G http://identifiers.org/clinvar/52469 ^@ NM_000059.3(BRCA2):c.8002_8008dupAGAAGAT (p.Ser2670Terfs) http://identifiers.org/clinvar/52519 ^@ NM_000059.3(BRCA2):c.8175G>A (p.Trp2725Ter) http://identifiers.org/clinvar/52570 ^@ NM_000059.3(BRCA2):c.8382C>G (p.Phe2794Leu) http://identifiers.org/clinvar/52620 ^@ NM_000059.3(BRCA2):c.8560delT (p.Tyr2854Metfs) http://identifiers.org/clinvar/52672 ^@ NM_000059.3(BRCA2):c.8755-79G>A http://identifiers.org/clinvar/52722 ^@ NM_000059.3(BRCA2):c.8991T>G (p.Tyr2997Ter) http://identifiers.org/clinvar/52773 ^@ NM_000059.3(BRCA2):c.9190G>T (p.Asp3064Tyr) http://identifiers.org/clinvar/52824 ^@ NM_000059.3(BRCA2):c.9375C>G (p.Leu3125=) http://identifiers.org/clinvar/52875 ^@ NM_000059.3(BRCA2):c.9613_9614delGCinsCT (p.Ala3205Leu) http://identifiers.org/clinvar/55712 ^@ NM_007294.3(BRCA1):c.80+6_80+9delTCAG http://identifiers.org/clinvar/55835 ^@ NM_003079.4(SMARCE1):c.572dupC (p.Ala192Serfs) http://identifiers.org/clinvar/55913 ^@ NM_003205.3(TCF12):c.722C>G (p.Ser241Ter) http://identifiers.org/clinvar/55971 ^@ NM_000111.2(SLC26A3):c.1387C>T (p.Arg463Ter) http://identifiers.org/clinvar/56024 ^@ NM_000112.3(SLC26A2):c.47C>G (p.Ser16Ter) http://identifiers.org/clinvar/56075 ^@ NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) http://identifiers.org/clinvar/56129 ^@ NM_000274.3(OAT):c.472_486delTATACCGTGAAGGGC (p.Tyr158_Gly162del) http://identifiers.org/clinvar/56180 ^@ NM_000310.3(PPT1):c.133_135dupTGT (p.Cys46_Asn47insCys) http://identifiers.org/clinvar/56230 ^@ NM_000481.3(AMT):c.259-1G>C http://identifiers.org/clinvar/56281 ^@ NM_001042432.1(CLN3):c.560G>C (p.Gly187Ala) http://identifiers.org/clinvar/56333 ^@ NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter) http://identifiers.org/clinvar/56383 ^@ NM_001126105.2(SLC7A7):c.998G>T (p.Arg333Met) http://identifiers.org/clinvar/56435 ^@ NM_004646.3(NPHS1):c.1292dupA (p.Ser432Valfs) http://identifiers.org/clinvar/56485 ^@ NM_004646.3(NPHS1):c.2664-4_2670delCTAGGTACACG http://identifiers.org/clinvar/56536 ^@ NM_006493.2(CLN5):c.524T>G (p.Leu175Ter) http://identifiers.org/clinvar/56589 ^@ NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) http://identifiers.org/clinvar/56644 ^@ NM_017890.4(VPS13B):c.11907dupC (p.Ser3970Glnfs) http://identifiers.org/clinvar/56694 ^@ NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) http://identifiers.org/clinvar/56744 ^@ NM_030943.3(AMN):c.1014_1021delCCTCGGCG (p.Leu339Profs) http://identifiers.org/clinvar/56813 ^@ NM_001142519.2(FAM111A):c.1583A>G (p.Asp528Gly) http://identifiers.org/clinvar/57004 ^@ GRCh38/hg38 Xq27.3(chrX:144251509-144887684)x2 http://identifiers.org/clinvar/57056 ^@ GRCh38/hg38 7q11.21(chr7:62570287-63230552)x3 http://identifiers.org/clinvar/57113 ^@ GRCh38/hg38 21q22.3(chr21:46601846-46660999)x3 http://identifiers.org/clinvar/57164 ^@ GRCh38/hg38 6q21(chr6:112309208-113197212)x3 http://identifiers.org/clinvar/57215 ^@ GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 http://identifiers.org/clinvar/57269 ^@ GRCh38/hg38 Xq26.2(chrX:132776918-133371859)x3 http://identifiers.org/clinvar/57321 ^@ GRCh38/hg38 Yp11.2(chrY:2786811-9007152)x2 http://identifiers.org/clinvar/57375 ^@ GRCh38/hg38 4q22.3-23(chr4:97580187-98539015)x3 http://identifiers.org/clinvar/101192 ^@ NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) http://identifiers.org/clinvar/103020 ^@ NM_001033053.2(NLRP1):c.2817G>A (p.Val939=) http://identifiers.org/clinvar/103070 ^@ NM_001174081.2(NLRP2):c.326-68A>G http://identifiers.org/clinvar/120179 ^@ NM_004820.4(CYP7B1):c.889A>G (p.Thr297Ala) http://identifiers.org/clinvar/120256 ^@ NM_144670.5(A2ML1):c.861C>A (p.Asp287Glu) http://identifiers.org/clinvar/120306 ^@ NM_001282227.1(ADA2):c.14G>T (p.Gly5Val) http://identifiers.org/clinvar/125537 ^@ U14680.1:n.2201T>C http://identifiers.org/clinvar/125618 ^@ NM_007294.3(BRCA1):c.213-8A>C http://identifiers.org/clinvar/125750 ^@ U14680.1:n.5106_5396del291 http://identifiers.org/clinvar/125828 ^@ U14680.1:n.5451+78G>A http://identifiers.org/clinvar/125889 ^@ NM_007294.3(BRCA1):c.548-58delT http://identifiers.org/clinvar/125953 ^@ U43746.1:n.190-115C>G http://identifiers.org/clinvar/126015 ^@ E49X http://identifiers.org/clinvar/126089 ^@ NM_000059.3(BRCA2):c.6098dupT (p.Arg2034Thrfs) http://identifiers.org/clinvar/126151 ^@ U43746.1:n.7830-1G>A http://identifiers.org/clinvar/126211 ^@ NM_000059.3(BRCA2):c.9401G>T (p.Gly3134Val) http://identifiers.org/clinvar/126269 ^@ NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) http://identifiers.org/clinvar/126320 ^@ NM_020732.3(ARID1B):c.2172G>A (p.Ala724=) http://identifiers.org/clinvar/126374 ^@ NM_001920.4(DCN):c.962delA (p.Lys321Argfs) http://identifiers.org/clinvar/126427 ^@ NM_012447.3(STAG3):c.561delC (p.Gln188Argfs) http://identifiers.org/clinvar/126500 ^@ NM_003638.2(ITGA8):c.1219G>A (p.Gly407Arg) http://identifiers.org/clinvar/126581 ^@ NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) http://identifiers.org/clinvar/126631 ^@ NM_024675.3(PALB2):c.212-180T>G http://identifiers.org/clinvar/126683 ^@ NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) http://identifiers.org/clinvar/126733 ^@ NM_024675.3(PALB2):c.3321G>A (p.Leu1107=) http://identifiers.org/clinvar/126784 ^@ NM_000321.2(RB1):c.1723C>T (p.Gln575Ter) http://identifiers.org/clinvar/126835 ^@ NM_000321.2(RB1):c.1332+1G>T http://identifiers.org/clinvar/126889 ^@ NM_017545.2(HAO1):c.289+2189G>C http://identifiers.org/clinvar/126944 ^@ NM_001127464.2(ZNF469):c.5597A>T (p.Gln1866Leu) http://identifiers.org/clinvar/126994 ^@ NM_005732.3(RAD50):c.214-44G>A http://identifiers.org/clinvar/127044 ^@ NM_134424.3(RAD52):c.*453C>T http://identifiers.org/clinvar/127101 ^@ NM_001069.2(TUBB2A):c.743C>T (p.Ala248Val) http://identifiers.org/clinvar/127660 ^@ NM_000314.6(PTEN):c.-1084C>T http://identifiers.org/clinvar/127718 ^@ NM_000465.3(BARD1):c.1677+5G>A http://identifiers.org/clinvar/127768 ^@ NM_000535.6(PMS2):c.1937G>T (p.Arg646Met) http://identifiers.org/clinvar/127819 ^@ NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) http://identifiers.org/clinvar/158657 ^@ NM_018486.2(HDAC8):c.-5G>T http://identifiers.org/clinvar/162136 ^@ NM_001563.3(IMPG1):c.461T>C (p.Leu154Pro) http://identifiers.org/clinvar/162204 ^@ NM_006701.4(TXNL4A):c.349G>T (p.Glu117Ter) http://identifiers.org/clinvar/162406 ^@ NM_020461.3(TUBGCP6):c.3163C>T (p.His1055Tyr) http://identifiers.org/clinvar/162489 ^@ NM_000106.5(CYP2D6):c.181-140delC http://identifiers.org/clinvar/162563 ^@ NM_001079802.1(FKTN):c.-90delA http://identifiers.org/clinvar/162665 ^@ NM_004130.3(GYG1):c.487delG (p.Asp163Thrfs) http://identifiers.org/clinvar/165551 ^@ NM_000364.3(TNNT2):c.279G>C (p.Glu93Asp) http://identifiers.org/clinvar/179603 ^@ NM_001035.2(RYR2):c.5494G>A (p.Gly1832Ser) http://identifiers.org/clinvar/162814 ^@ NM_001232.3(CASQ2):c.567C>G (p.Phe189Leu) http://identifiers.org/clinvar/166507 ^@ NM_206933.2(USH2A):c.4002G>A (p.Lys1334=) http://identifiers.org/clinvar/179953 ^@ NM_133378.4(TTN):c.65170G>A (p.Glu21724Lys) http://identifiers.org/clinvar/165854 ^@ NM_001256850.1(TTN):c.66029T>G (p.Ile22010Ser) http://identifiers.org/clinvar/178195 ^@ NM_001256850.1(TTN):c.63941G>C (p.Gly21314Ala) http://identifiers.org/clinvar/165951 ^@ NM_133378.4(TTN):c.49774G>C (p.Val16592Leu) http://identifiers.org/clinvar/178645 ^@ NM_206933.2(USH2A):c.9459C>T (p.Cys3153=) http://identifiers.org/clinvar/165672 ^@ NM_001256850.1(TTN):c.94422T>G (p.Gly31474=) http://identifiers.org/clinvar/166001 ^@ NM_133378.4(TTN):c.44137T>C (p.Trp14713Arg) http://identifiers.org/clinvar/180053 ^@ NM_001256850.1(TTN):c.39561_39563delAGA (p.Glu13187del) http://identifiers.org/clinvar/166257 ^@ NM_133379.4(TTN):c.14790C>G (p.Val4930=) http://identifiers.org/clinvar/166141 ^@ NM_133378.4(TTN):c.23283T>C (p.Gly7761=) http://identifiers.org/clinvar/178245 ^@ NM_133378.4(TTN):c.17011G>T (p.Ala5671Ser) http://identifiers.org/clinvar/166307 ^@ NM_133378.4(TTN):c.7642C>T (p.Gln2548Ter) http://identifiers.org/clinvar/180003 ^@ NM_133378.4(TTN):c.2137C>T (p.Arg713Ter) http://identifiers.org/clinvar/165279 ^@ NM_005633.3(SOS1):c.3369A>G (p.Gln1123=) http://identifiers.org/clinvar/163075 ^@ NM_005219.4(DIAPH1):c.783G>A (p.Lys261=) http://identifiers.org/clinvar/178145 ^@ NM_003280.2(TNNC1):c.201C>T (p.Asp67=) http://identifiers.org/clinvar/178595 ^@ NM_006005.3(WFS1):c.1758C>T (p.Ala586=) http://identifiers.org/clinvar/165011 ^@ NM_002880.3(RAF1):c.285C>G (p.Cys95Trp) http://identifiers.org/clinvar/165139 ^@ NM_198056.2(SCN5A):c.4300-14T>C http://identifiers.org/clinvar/166591 ^@ NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) http://identifiers.org/clinvar/178713 ^@ NM_000492.3(CFTR):c.1210-11T>G http://identifiers.org/clinvar/164802 ^@ NM_016616.4(NME8):c.840A>G (p.Arg280=) http://identifiers.org/clinvar/198648 ^@ NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) http://identifiers.org/clinvar/198699 ^@ NM_000231.2(SGCG):c.735dupC (p.Lys246Glnfs) http://identifiers.org/clinvar/198754 ^@ NM_000843.3(GRM6):c.1695G>A (p.Thr565=) http://identifiers.org/clinvar/198805 ^@ NM_004385.4(VCAN):c.8859A>C (p.Thr2953=) http://identifiers.org/clinvar/198859 ^@ NM_014476.5(PDLIM3):c.1027A>G (p.Thr343Ala) http://identifiers.org/clinvar/198912 ^@ NM_025074.6(FRAS1):c.776T>G (p.Leu259Arg) http://identifiers.org/clinvar/198965 ^@ NM_182914.2(SYNE2):c.15857A>G (p.Tyr5286Cys) http://identifiers.org/clinvar/199017 ^@ NM_000411.6(HLCS):c.1624C>T (p.Gln542Ter) http://identifiers.org/clinvar/199067 ^@ NM_001360.2(DHCR7):c.1270G>A (p.Gly424Ser) http://identifiers.org/clinvar/199121 ^@ NM_174963.3(ST3GAL3):c.867C>T (p.Tyr289=) http://identifiers.org/clinvar/199172 ^@ NM_024757.4(EHMT1):c.1425C>T (p.Asp475=) http://identifiers.org/clinvar/199228 ^@ NM_033071.3(SYNE1):c.17603_17607delATTTG (p.Asp5868Alafs) http://identifiers.org/clinvar/199729 ^@ NM_000090.3(COL3A1):c.2338-2A>G http://identifiers.org/clinvar/199838 ^@ NM_004415.3(DSP):c.3018A>G (p.Leu1006=) http://identifiers.org/clinvar/199895 ^@ NM_004415.3(DSP):c.5827A>G (p.Arg1943Gly) http://identifiers.org/clinvar/200264 ^@ NM_000238.3(KCNH2):c.3331-13delG http://identifiers.org/clinvar/200803 ^@ NM_000238.3(KCNH2):c.3107dupG (p.Asp1037Argfs) http://identifiers.org/clinvar/200684 ^@ NM_000238.3(KCNH2):c.2797dupA (p.Ser933Lysfs) http://identifiers.org/clinvar/200410 ^@ NM_000238.3(KCNH2):c.2081G>A (p.Arg694His) http://identifiers.org/clinvar/200578 ^@ NM_000238.3(KCNH2):c.284A>C (p.Glu95Ala) http://identifiers.org/clinvar/199670 ^@ NM_001613.2(ACTA2):c.353G>A (p.Arg118Gln) http://identifiers.org/clinvar/200858 ^@ NM_000218.2(KCNQ1):c.1780C>T (p.Arg594Ter) http://identifiers.org/clinvar/200121 ^@ NM_000138.4(FBN1):c.7819+4A>G http://identifiers.org/clinvar/199951 ^@ NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) http://identifiers.org/clinvar/200065 ^@ NM_000138.4(FBN1):c.5513G>A (p.Gly1838Asp) http://identifiers.org/clinvar/200010 ^@ NM_000138.4(FBN1):c.3020T>G (p.Leu1007Arg) http://identifiers.org/clinvar/200177 ^@ NM_000138.4(FBN1):c.1147G>A (p.Glu383Lys) http://identifiers.org/clinvar/199783 ^@ NM_024422.4(DSC2):c.1276G>A (p.Glu426Lys) http://identifiers.org/clinvar/201937 ^@ NM_144573.3(NEXN):c.461_464delACAA (p.Asn154Ilefs) http://identifiers.org/clinvar/201880 ^@ NM_032578.3(MYPN):c.782A>G (p.Tyr261Cys) http://identifiers.org/clinvar/232239 ^@ NM_005732.3(RAD50):c.2238A>C (p.Glu746Asp) http://identifiers.org/clinvar/233029 ^@ NM_005732.3(RAD50):c.3721A>G (p.Asn1241Asp) http://identifiers.org/clinvar/231089 ^@ NM_000535.6(PMS2):c.2199T>C (p.Ala733=) http://identifiers.org/clinvar/231939 ^@ NM_002485.4(NBN):c.1672A>G (p.Ile558Val) http://identifiers.org/clinvar/233179 ^@ NM_002485.4(NBN):c.158C>T (p.Ser53Phe) http://identifiers.org/clinvar/232139 ^@ NM_058195.3(CDKN2A):c.92C>T (p.Thr31Met) http://identifiers.org/clinvar/231489 ^@ NM_000051.3(ATM):c.2082T>C (p.Leu694=) http://identifiers.org/clinvar/233529 ^@ NM_000051.3(ATM):c.2552A>G (p.Asp851Gly) http://identifiers.org/clinvar/233679 ^@ NM_000051.3(ATM):c.3844C>A (p.Leu1282Ile) http://identifiers.org/clinvar/231689 ^@ NM_000051.3(ATM):c.6018A>G (p.Leu2006=) http://identifiers.org/clinvar/231339 ^@ NM_000051.3(ATM):c.6650T>A (p.Phe2217Tyr) http://identifiers.org/clinvar/231789 ^@ NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) http://identifiers.org/clinvar/232389 ^@ NM_000051.3(ATM):c.8105T>G (p.Ile2702Arg) http://identifiers.org/clinvar/231189 ^@ NM_000051.3(ATM):c.8514dupA (p.Phe2839Ilefs) http://identifiers.org/clinvar/233329 ^@ NM_005591.3(MRE11):c.954A>G (p.Pro318=) http://identifiers.org/clinvar/232979 ^@ NM_005591.3(MRE11):c.393T>A (p.Asp131Glu) http://identifiers.org/clinvar/231439 ^@ NM_000059.3(BRCA2):c.338G>A (p.Arg113Lys) http://identifiers.org/clinvar/233579 ^@ NM_000059.3(BRCA2):c.1651G>A (p.Asp551Asn) http://identifiers.org/clinvar/231589 ^@ NM_000059.3(BRCA2):c.1907C>T (p.Ser636Leu) http://identifiers.org/clinvar/232089 ^@ NM_000059.3(BRCA2):c.2591A>T (p.Gln864Leu) http://identifiers.org/clinvar/230989 ^@ NM_000059.3(BRCA2):c.4355A>G (p.Gln1452Arg) http://identifiers.org/clinvar/233379 ^@ NM_000059.3(BRCA2):c.4765C>G (p.Pro1589Ala) http://identifiers.org/clinvar/231539 ^@ NM_000059.3(BRCA2):c.5456C>T (p.Pro1819Leu) http://identifiers.org/clinvar/231889 ^@ NM_024675.3(PALB2):c.3412G>A (p.Ala1138Thr) http://identifiers.org/clinvar/231989 ^@ NM_004360.4(CDH1):c.1218C>T (p.Thr406=) http://identifiers.org/clinvar/233079 ^@ NM_004360.4(CDH1):c.1716T>C (p.Ser572=) http://identifiers.org/clinvar/233729 ^@ NM_004360.4(CDH1):c.1876T>G (p.Phe626Val) http://identifiers.org/clinvar/230539 ^@ NM_001042492.2(NF1):c.2355A>G (p.Glu785=) http://identifiers.org/clinvar/231389 ^@ NM_001042492.2(NF1):c.2683A>G (p.Met895Val) http://identifiers.org/clinvar/232189 ^@ NM_001042492.2(NF1):c.4504G>A (p.Gly1502Ser) http://identifiers.org/clinvar/231839 ^@ NM_002878.3(RAD51D):c.345+2T>C http://identifiers.org/clinvar/231289 ^@ NM_007294.3(BRCA1):c.2717delA (p.Lys906Argfs) http://identifiers.org/clinvar/233279 ^@ NM_007294.3(BRCA1):c.2386_2387delACinsT (p.Thr796Terfs) http://identifiers.org/clinvar/233229 ^@ NM_032043.2(BRIP1):c.2405A>G (p.Asp802Gly) http://identifiers.org/clinvar/233429 ^@ NM_032043.2(BRIP1):c.1981T>G (p.Cys661Gly) http://identifiers.org/clinvar/232339 ^@ NM_032043.2(BRIP1):c.508-2A>T http://identifiers.org/clinvar/232289 ^@ NM_000546.5(TP53):c.764T>A (p.Ile255Asn) http://identifiers.org/clinvar/232929 ^@ NM_005359.5(SMAD4):c.297G>A (p.Trp99Ter) http://identifiers.org/clinvar/232039 ^@ NM_007194.3(CHEK2):c.1378C>G (p.Leu460Val) http://identifiers.org/clinvar/242392 ^@ NM_000260.3(MYO7A):c.1969C>T (p.Arg657Trp) http://identifiers.org/clinvar/240078 ^@ NM_004958.3(MTOR):c.3142A>G (p.Ile1048Val) http://identifiers.org/clinvar/239428 ^@ NM_003000.2(SDHB):c.296G>A (p.Gly99Asp) http://identifiers.org/clinvar/239478 ^@ NM_003036.3(SKI):c.471G>A (p.Gln157=) http://identifiers.org/clinvar/238235 ^@ NM_001035.2(RYR2):c.4683+7A>T http://identifiers.org/clinvar/238335 ^@ NM_001128425.1(MUTYH):c.1263G>A (p.Leu421=) http://identifiers.org/clinvar/237635 ^@ NM_000312.3(PROC):c.91G>A (p.Glu31Lys) http://identifiers.org/clinvar/237735 ^@ NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) http://identifiers.org/clinvar/237835 ^@ NM_000465.3(BARD1):c.345A>G (p.Leu115=) http://identifiers.org/clinvar/241968 ^@ NM_152383.4(DIS3L2):c.1923T>C (p.Asn641=) http://identifiers.org/clinvar/239828 ^@ NM_004304.4(ALK):c.3630G>A (p.Glu1210=) http://identifiers.org/clinvar/237384 ^@ NM_000251.2(MSH2):c.2210+9A>G http://identifiers.org/clinvar/237183 ^@ NM_000179.2(MSH6):c.320C>T (p.Pro107Leu) http://identifiers.org/clinvar/237133 ^@ NM_000179.2(MSH6):c.1350_1351delAT (p.Phe451Hisfs) http://identifiers.org/clinvar/241468 ^@ NM_024334.2(TMEM43):c.429G>A (p.Thr143=) http://identifiers.org/clinvar/242268 ^@ NR_001566.1(TERC):n.232A>C http://identifiers.org/clinvar/242168 ^@ NM_181426.1(CCDC39):c.1363-3delC http://identifiers.org/clinvar/239528 ^@ NM_003242.5(TGFBR2):c.1271A>G (p.Tyr424Cys) http://identifiers.org/clinvar/237334 ^@ NM_000249.3(MLH1):c.2249dupA (p.Tyr750Terfs) http://identifiers.org/clinvar/240679 ^@ NM_006514.3(SCN10A):c.5089G>A (p.Val1697Ile) http://identifiers.org/clinvar/240279 ^@ NM_006030.3(CACNA2D2):c.3398C>T (p.Pro1133Leu) http://identifiers.org/clinvar/238585 ^@ NM_001148.4(ANK2):c.6648C>G (p.Gly2216=) http://identifiers.org/clinvar/240329 ^@ NM_006206.4(PDGFRA):c.2323+7G>C http://identifiers.org/clinvar/237284 ^@ NM_000222.2(KIT):c.844G>A (p.Val282Ile) http://identifiers.org/clinvar/237234 ^@ NM_000222.2(KIT):c.1116-5T>C http://identifiers.org/clinvar/239928 ^@ NM_004387.3(NKX2-5):c.-229-?_*465+?del http://identifiers.org/clinvar/242218 ^@ NM_198253.2(TERT):c.1589C>T (p.Pro530Leu) http://identifiers.org/clinvar/240229 ^@ NM_005732.3(RAD50):c.2865T>C (p.His955=) http://identifiers.org/clinvar/239678 ^@ NM_004168.3(SDHA):c.622-8T>C http://identifiers.org/clinvar/239628 ^@ NM_004100.4(EYA4):c.1773G>A (p.Arg591=) http://identifiers.org/clinvar/238635 ^@ NM_001206927.1(DNAH8):c.12933T>C (p.Asp4311=) http://identifiers.org/clinvar/262767 ^@ NM_153717.2(EVC):c.1465-47A>C http://identifiers.org/clinvar/262467 ^@ NM_139281.2(WDR36):c.99C>G (p.Asp33Glu) http://identifiers.org/clinvar/262067 ^@ NM_032446.2(MEGF10):c.2034C>T (p.Asn678=) http://identifiers.org/clinvar/258038 ^@ NM_001369.2(DNAH5):c.5114+22A>T http://identifiers.org/clinvar/257988 ^@ NM_001369.2(DNAH5):c.1198-45A>G http://identifiers.org/clinvar/263017 ^@ NM_182925.4(FLT4):c.1103+20A>C http://identifiers.org/clinvar/263067 ^@ NM_182925.4(FLT4):c.633A>G (p.Gly211=) http://identifiers.org/clinvar/261667 ^@ NM_023073.3(C5orf42):c.1755A>G (p.Ser585=) http://identifiers.org/clinvar/259377 ^@ NM_004385.4(VCAN):c.9379+7T>C http://identifiers.org/clinvar/262167 ^@ NM_033071.3(SYNE1):c.16191A>C (p.Glu5397Asp) http://identifiers.org/clinvar/262417 ^@ NM_138694.3(PKHD1):c.8108-16G>C http://identifiers.org/clinvar/258138 ^@ NM_001458.4(FLNC):c.2415C>T (p.Cys805=) http://identifiers.org/clinvar/257888 ^@ NM_001277115.1(DNAH11):c.4125C>A (p.Arg1375=) http://identifiers.org/clinvar/257938 ^@ NM_001277115.1(DNAH11):c.8941-12A>T http://identifiers.org/clinvar/258538 ^@ NM_002047.3(GARS):c.747T>C (p.Tyr249=) http://identifiers.org/clinvar/263117 ^@ NM_198428.2(BBS9):c.1363G>A (p.Ala455Thr) http://identifiers.org/clinvar/255449 ^@ NM_000168.5(GLI3):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/255399 ^@ NM_000162.3(GCK):c.*11C>T http://identifiers.org/clinvar/259678 ^@ NM_005228.4(EGFR):c.2487G>A (p.Glu829=) http://identifiers.org/clinvar/256838 ^@ NM_000941.2(POR):c.1248+12C>T http://identifiers.org/clinvar/260178 ^@ NM_012082.3(ZFPM2):c.3207C>T (p.His1069=) http://identifiers.org/clinvar/260278 ^@ NM_012472.5(LRRC6):c.695C>T (p.Thr232Ile) http://identifiers.org/clinvar/255949 ^@ NM_000368.4(TSC1):c.2625+19G>A http://identifiers.org/clinvar/255099 ^@ NM_000093.4(COL5A1):c.766G>A (p.Asp256Asn) http://identifiers.org/clinvar/255049 ^@ NM_000093.4(COL5A1):c.1332+46T>C http://identifiers.org/clinvar/259978 ^@ NM_006412.3(AGPAT2):c.493-17C>A http://identifiers.org/clinvar/260128 ^@ NM_007126.3(VCP):c.811+3G>A http://identifiers.org/clinvar/259477 ^@ NM_004629.1(FANCG):c.1636+7A>G http://identifiers.org/clinvar/260378 ^@ NM_014290.2(TDRD7):c.2001C>G (p.Leu667=) http://identifiers.org/clinvar/262117 ^@ NM_032844.4(MASTL):c.186+37C>T http://identifiers.org/clinvar/262217 ^@ NM_033100.3(CDHR1):c.640-16T>C http://identifiers.org/clinvar/257338 ^@ NM_001080114.1(LDB3):c.718+47G>C http://identifiers.org/clinvar/260728 ^@ NM_016341.3(PLCE1):c.5780A>G (p.His1927Arg) http://identifiers.org/clinvar/255499 ^@ NM_000195.4(HPS1):c.1335+48G>A http://identifiers.org/clinvar/260478 ^@ NM_014956.4(CEP164):c.2205C>T (p.Ser735=) http://identifiers.org/clinvar/260028 ^@ NM_006757.3(TNNT3):c.591-47G>T http://identifiers.org/clinvar/259627 ^@ NM_005055.4(RAPSN):c.193-15C>T http://identifiers.org/clinvar/258638 ^@ NM_002335.3(LRP5):c.3357G>A (p.Val1119=) http://identifiers.org/clinvar/259778 ^@ NM_005472.4(KCNE3):c.198T>C (p.Phe66=) http://identifiers.org/clinvar/258188 ^@ NM_001814.5(CTSC):c.-18T>C http://identifiers.org/clinvar/262817 ^@ NM_172364.4(CACNA2D4):c.2793-15G>A http://identifiers.org/clinvar/258238 ^@ NM_001844.4(COL2A1):c.4213G>A (p.Gly1405Ser) http://identifiers.org/clinvar/255749 ^@ NM_000289.5(PFKM):c.1308C>G (p.Val436=) http://identifiers.org/clinvar/258588 ^@ NM_002206.2(ITGA7):c.46T>G (p.Cys16Gly) http://identifiers.org/clinvar/255599 ^@ NM_000231.2(SGCG):c.*10G>A http://identifiers.org/clinvar/261617 ^@ NM_022489.3(INF2):c.3207A>C (p.Pro1069=) http://identifiers.org/clinvar/257188 ^@ NM_001034852.2(SMOC1):c.126G>A (p.Gln42=) http://identifiers.org/clinvar/262517 ^@ NM_144596.3(TTC8):c.669G>A (p.Lys223=) http://identifiers.org/clinvar/257638 ^@ NM_001211.5(BUB1B):c.3099A>G (p.Lys1033=) http://identifiers.org/clinvar/255149 ^@ NM_000119.2(EPB42):c.1408+4C>T http://identifiers.org/clinvar/260328 ^@ NM_014080.4(DUOX2):c.908C>G (p.Pro303Arg) http://identifiers.org/clinvar/255299 ^@ NM_000138.4(FBN1):c.5066-35C>T http://identifiers.org/clinvar/255649 ^@ NM_000259.3(MYO5A):c.3567+20C>T http://identifiers.org/clinvar/332523 ^@ NM_003659.3(AGPS):c.1762A>G (p.Ile588Val) http://identifiers.org/clinvar/333073 ^@ NM_000090.3(COL3A1):c.*43A>G http://identifiers.org/clinvar/335814 ^@ NM_000348.3(SRD5A2):c.*88_*91delTCCCinsACCTATATATATATATATATATAT http://identifiers.org/clinvar/332823 ^@ NM_133378.4(TTN):c.51869C>T (p.Thr17290Ile) http://identifiers.org/clinvar/333123 ^@ NM_000393.4(COL5A2):c.*401A>C http://identifiers.org/clinvar/336064 ^@ NM_022437.2(ABCG8):c.165+13C>T http://identifiers.org/clinvar/332973 ^@ NM_133378.4(TTN):c.-38T>G http://identifiers.org/clinvar/335414 ^@ NM_000183.2(HADHB):c.*268G>A http://identifiers.org/clinvar/336114 ^@ NM_133259.3(LRPPRC):c.*1653G>T http://identifiers.org/clinvar/336164 ^@ NM_133259.3(LRPPRC):c.1369+5G>A http://identifiers.org/clinvar/336214 ^@ NM_000341.3(SLC3A1):c.1854G>A (p.Met618Ile) http://identifiers.org/clinvar/336264 ^@ NM_001430.4(EPAS1):c.1263C>T (p.Phe421=) http://identifiers.org/clinvar/335564 ^@ NM_144631.5(ZNF513):c.-91C>T http://identifiers.org/clinvar/333223 ^@ NM_005259.2(MSTN):c.*742C>T http://identifiers.org/clinvar/335614 ^@ NM_001029883.2(C2orf71):c.*1050C>T http://identifiers.org/clinvar/333273 ^@ NM_007315.3(STAT1):c.1341C>A (p.Asp447Glu) http://identifiers.org/clinvar/336571 ^@ NM_001135659.2(NRXN1):c.-644A>G http://identifiers.org/clinvar/335764 ^@ NM_000379.3(XDH):c.3148-4G>T http://identifiers.org/clinvar/333823 ^@ NM_014929.3(FASTKD2):c.*1180G>C http://identifiers.org/clinvar/335964 ^@ NM_005633.3(SOS1):c.*4221C>T http://identifiers.org/clinvar/333523 ^@ NM_001228.4(CASP8):c.*755G>A http://identifiers.org/clinvar/333573 ^@ NM_020919.3(ALS2):c.*1100A>G http://identifiers.org/clinvar/333723 ^@ NM_001204.6(BMPR2):c.*6879A>G http://identifiers.org/clinvar/334124 ^@ NM_000384.2(APOB):c.7655A>G (p.Asp2552Gly) http://identifiers.org/clinvar/333773 ^@ NM_005006.6(NDUFS1):c.*399G>A http://identifiers.org/clinvar/336471 ^@ NM_000233.3(LHCGR):c.50_55dupTGCAGC (p.Gln18_Pro19insLeuGln) http://identifiers.org/clinvar/334275 ^@ NM_173076.2(ABCA12):c.833C>T (p.Ser278Leu) http://identifiers.org/clinvar/336621 ^@ NM_001039348.2(EFEMP1):c.1160G>A (p.Arg387Gln) http://identifiers.org/clinvar/334174 ^@ NM_000384.2(APOB):c.1075A>G (p.Ser359Gly) http://identifiers.org/clinvar/336721 ^@ NM_032180.2(FAM161A):c.*811_*812insG http://identifiers.org/clinvar/342311 ^@ NM_016247.3(IMPG2):c.*740_*743dupTATA http://identifiers.org/clinvar/342411 ^@ NM_000551.3(VHL):c.*392G>A http://identifiers.org/clinvar/335114 ^@ NM_004369.3(COL6A3):c.6174C>T (p.Asp2058=) http://identifiers.org/clinvar/335464 ^@ NM_194248.2(OTOF):c.-43T>A http://identifiers.org/clinvar/342561 ^@ NM_198196.2(CD96):c.*819C>T http://identifiers.org/clinvar/335214 ^@ NM_004321.7(KIF1A):c.*3309C>T http://identifiers.org/clinvar/335664 ^@ NM_001029883.2(C2orf71):c.1297C>T (p.Pro433Ser) http://identifiers.org/clinvar/343500 ^@ NM_024334.2(TMEM43):c.89G>A (p.Ser30Asn) http://identifiers.org/clinvar/335714 ^@ NM_004304.4(ALK):c.386G>T (p.Gly129Val) http://identifiers.org/clinvar/335364 ^@ NM_000182.4(HADHA):c.*494G>T http://identifiers.org/clinvar/335514 ^@ NM_000221.2(KHK):c.*754T>C http://identifiers.org/clinvar/335864 ^@ NM_014946.3(SPAST):c.*1544G>T http://identifiers.org/clinvar/344000 ^@ NM_001041.3(SI):c.5367T>C (p.Tyr1789=) http://identifiers.org/clinvar/354516 ^@ NM_002890.2(RASA1):c.1371G>A (p.Lys457=) http://identifiers.org/clinvar/357556 ^@ NM_001723.5(DST):c.6582A>C (p.Ala2194=) http://identifiers.org/clinvar/354866 ^@ NM_007214.4(SEC63):c.*1685A>C http://identifiers.org/clinvar/354916 ^@ NM_007214.4(SEC63):c.340-15_340-13delTTT http://identifiers.org/clinvar/354966 ^@ NM_014028.3(OSTM1):c.*1205C>G http://identifiers.org/clinvar/358056 ^@ NM_004999.3(MYO6):c.*4114T>A http://identifiers.org/clinvar/355066 ^@ NM_003880.3(WISP3):c.892A>C (p.Ile298Leu) http://identifiers.org/clinvar/355367 ^@ NM_006208.2(ENPP1):c.*637A>C http://identifiers.org/clinvar/355417 ^@ NM_006208.2(ENPP1):c.*3450T>C http://identifiers.org/clinvar/358895 ^@ NM_018718.2(CEP41):c.*4314T>C http://identifiers.org/clinvar/359195 ^@ NM_014141.5(CNTNAP2):c.3715+4A>C http://identifiers.org/clinvar/359395 ^@ NM_022458.3(LMBR1):c.*1797G>C http://identifiers.org/clinvar/352177 ^@ NM_005211.3(CSF1R):c.178C>T (p.Leu60=) http://identifiers.org/clinvar/356256 ^@ NM_000063.5(C2):c.1902+6G>C http://identifiers.org/clinvar/359595 ^@ NM_001277115.1(DNAH11):c.447A>G (p.Gly149=) http://identifiers.org/clinvar/356306 ^@ NM_006929.4(SKIV2L):c.-193A>C http://identifiers.org/clinvar/352327 ^@ NM_000171.3(GLRA1):c.-164C>T http://identifiers.org/clinvar/359745 ^@ NM_032581.3(FAM126A):c.*1506T>A http://identifiers.org/clinvar/359845 ^@ NM_004403.2(DFNA5):c.782G>A (p.Arg261Gln) http://identifiers.org/clinvar/352477 ^@ NM_005546.3(ITK):c.*9G>A http://identifiers.org/clinvar/359895 ^@ NM_018947.5(CYCS):c.*3024A>T http://identifiers.org/clinvar/352377 ^@ NM_000337.5(SGCD):c.*3845T>C http://identifiers.org/clinvar/356706 ^@ NM_002098.5(GUCA1B):c.*997C>T http://identifiers.org/clinvar/360195 ^@ NM_000168.5(GLI3):c.*1080G>A http://identifiers.org/clinvar/352577 ^@ NM_002187.2(IL12B):c.300G>A (p.Ser100=) http://identifiers.org/clinvar/360245 ^@ NM_000168.5(GLI3):c.1497C>T (p.His499=) http://identifiers.org/clinvar/352777 ^@ NM_001017995.2(SH3PXD2B):c.*1215A>G http://identifiers.org/clinvar/352627 ^@ NM_000816.3(GABRG2):c.-334C>T http://identifiers.org/clinvar/357056 ^@ NM_020745.3(AARS2):c.2860G>A (p.Ala954Thr) http://identifiers.org/clinvar/352827 ^@ NM_001017995.2(SH3PXD2B):c.232+4G>A http://identifiers.org/clinvar/352877 ^@ NM_022455.4(NSD1):c.2251C>G (p.Leu751Val) http://identifiers.org/clinvar/352927 ^@ NM_022455.4(NSD1):c.*3827T>C http://identifiers.org/clinvar/357206 ^@ NM_012120.2(CD2AP):c.*496_*502delATATATAinsGTGTGTGTGTG http://identifiers.org/clinvar/353127 ^@ NM_014244.4(ADAMTS2):c.991G>A (p.Glu331Lys) http://identifiers.org/clinvar/353177 ^@ NM_003900.4(SQSTM1):c.*725_*728dupCTTT http://identifiers.org/clinvar/357356 ^@ NM_138694.3(PKHD1):c.*3509_*3512delAATT http://identifiers.org/clinvar/353227 ^@ NM_014324.5(AMACR):c.*1853G>A http://identifiers.org/clinvar/353277 ^@ NM_002185.3(IL7R):c.*574G>T http://identifiers.org/clinvar/357406 ^@ NM_138694.3(PKHD1):c.11476C>A (p.His3826Asn) http://identifiers.org/clinvar/357506 ^@ NM_018100.3(EFHC1):c.*1044_*1045insATATATATATATATATATATAT http://identifiers.org/clinvar/357656 ^@ NM_000129.3(F13A1):c.*619C>T http://identifiers.org/clinvar/357706 ^@ NM_001142800.1(EYS):c.5140A>C (p.Thr1714Pro) http://identifiers.org/clinvar/353327 ^@ NM_004172.4(SLC1A3):c.*95G>A http://identifiers.org/clinvar/353377 ^@ NM_133433.3(NIPBL):c.2926A>G (p.Met976Val) http://identifiers.org/clinvar/357906 ^@ NM_012434.4(SLC17A5):c.*1332T>A http://identifiers.org/clinvar/353427 ^@ NM_023073.3(C5orf42):c.7930G>C (p.Val2644Leu) http://identifiers.org/clinvar/300086 ^@ NM_000124.3(ERCC6):c.1158C>T (p.Asp386=) http://identifiers.org/clinvar/363954 ^@ NM_018444.3(PDP1):c.*743C>T http://identifiers.org/clinvar/300136 ^@ NM_000242.2(MBL2):c.*1088C>T http://identifiers.org/clinvar/300286 ^@ NM_018055.4(NODAL):c.*836G>C http://identifiers.org/clinvar/300586 ^@ NM_004273.4(CHST3):c.*856C>G http://identifiers.org/clinvar/307390 ^@ NM_005996.3(TBX3):c.-366G>T http://identifiers.org/clinvar/300786 ^@ NM_014000.2(VCL):c.1040C>T (p.Pro347Leu) http://identifiers.org/clinvar/307990 ^@ NM_021957.3(GYS2):c.1790A>G (p.Asp597Gly) http://identifiers.org/clinvar/364893 ^@ NM_002316.3(LMX1B):c.*59C>T http://identifiers.org/clinvar/365043 ^@ NM_003165.3(STXBP1):c.-195C>T http://identifiers.org/clinvar/365443 ^@ NM_000368.4(TSC1):c.*2647C>T http://identifiers.org/clinvar/365143 ^@ NM_001003722.1(GLE1):c.*708T>C http://identifiers.org/clinvar/365193 ^@ NM_014908.3(DOLK):c.1166G>A (p.Arg389Gln) http://identifiers.org/clinvar/365343 ^@ NM_015046.5(SETX):c.7406T>C (p.Leu2469Pro) http://identifiers.org/clinvar/309079 ^@ NM_003482.3(KMT2D):c.2737G>A (p.Glu913Lys) http://identifiers.org/clinvar/365843 ^@ NM_052813.4(CARD9):c.870G>A (p.Ala290=) http://identifiers.org/clinvar/365944 ^@ NM_016219.4(MAN1B1):c.183C>T (p.Asp61=) http://identifiers.org/clinvar/298347 ^@ NM_000195.4(HPS1):c.602G>A (p.Arg201Gln) http://identifiers.org/clinvar/365593 ^@ NM_014694.3(ADAMTSL2):c.1276+5C>G http://identifiers.org/clinvar/365994 ^@ NM_024757.4(EHMT1):c.363C>T (p.Gly121=) http://identifiers.org/clinvar/365693 ^@ NM_000787.3(DBH):c.*565_*566delGA http://identifiers.org/clinvar/365793 ^@ NM_000093.4(COL5A1):c.*2429T>C http://identifiers.org/clinvar/309629 ^@ NM_000423.2(KRT2):c.58C>T (p.Arg20Trp) http://identifiers.org/clinvar/309779 ^@ NM_002206.2(ITGA7):c.3058-4C>A http://identifiers.org/clinvar/310129 ^@ NM_001038.5(SCNN1A):c.*70T>C http://identifiers.org/clinvar/310229 ^@ NM_014319.4(LEMD3):c.948C>T (p.Leu316=) http://identifiers.org/clinvar/310429 ^@ NM_001131025.1(PEX5):c.1647C>G (p.Leu549=) http://identifiers.org/clinvar/310479 ^@ NM_024685.3(BBS10):c.*773T>C http://identifiers.org/clinvar/321947 ^@ NM_017775.3(TTC19):c.758C>T (p.Pro253Leu) http://identifiers.org/clinvar/340572 ^@ NM_014339.6(IL17RA):c.427C>T (p.Arg143Cys) http://identifiers.org/clinvar/322297 ^@ NM_000430.3(PAFAH1B1):c.*1990A>G http://identifiers.org/clinvar/322397 ^@ NM_080669.5(SLC46A1):c.*692A>T http://identifiers.org/clinvar/341461 ^@ NM_002473.5(MYH9):c.*1193A>G http://identifiers.org/clinvar/341511 ^@ NM_002473.5(MYH9):c.3677G>A (p.Arg1226Gln) http://identifiers.org/clinvar/322897 ^@ NM_004937.2(CTNS):c.*1633C>G http://identifiers.org/clinvar/341711 ^@ NM_022098.3(XPNPEP3):c.*2611G>T http://identifiers.org/clinvar/322997 ^@ NM_001004334.3(GPR179):c.3518G>C (p.Ser1173Thr) http://identifiers.org/clinvar/341761 ^@ NM_022098.3(XPNPEP3):c.*6164G>C http://identifiers.org/clinvar/323197 ^@ NM_021939.3(FKBP10):c.*402T>A http://identifiers.org/clinvar/315672 ^@ NM_005159.4(ACTC1):c.*918delA http://identifiers.org/clinvar/315772 ^@ NM_152594.2(SPRED1):c.*3647T>G http://identifiers.org/clinvar/323547 ^@ NM_000419.4(ITGA2B):c.2127G>A (p.Lys709=) http://identifiers.org/clinvar/315872 ^@ NM_144508.4(KNL1):c.6594+10G>A http://identifiers.org/clinvar/368012 ^@ NM_000133.3(F9):c.*799A>T http://identifiers.org/clinvar/368262 ^@ NM_000531.5(OTC):c.*106G>A http://identifiers.org/clinvar/368562 ^@ NM_006306.3(SMC1A):c.*3421G>T http://identifiers.org/clinvar/324545 ^@ NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) http://identifiers.org/clinvar/324595 ^@ NM_014336.4(AIPL1):c.*390G>T http://identifiers.org/clinvar/317311 ^@ NG_008218.2:g.23025C>G http://identifiers.org/clinvar/317462 ^@ NM_000875.4(IGF1R):c.4045A>G (p.Met1349Val) http://identifiers.org/clinvar/317662 ^@ NM_000875.4(IGF1R):c.*6977_*6979delGAA http://identifiers.org/clinvar/315822 ^@ NM_002225.3(IVD):c.*1610C>T http://identifiers.org/clinvar/317712 ^@ NM_000246.3(CIITA):c.2421G>T (p.Leu807=) http://identifiers.org/clinvar/315922 ^@ NM_138477.2(CDAN1):c.3194G>A (p.Arg1065Gln) http://identifiers.org/clinvar/318164 ^@ NM_002474.2(MYH11):c.2665A>C (p.Lys889Gln) http://identifiers.org/clinvar/371867 ^@ NM_004168.3(SDHA):c.-5C>T http://identifiers.org/clinvar/372017 ^@ NM_024675.3(PALB2):c.212-20_212-19dupTA http://identifiers.org/clinvar/371817 ^@ NM_007294.3(BRCA1):c.5407-25T>A http://identifiers.org/clinvar/373812 ^@ NM_004421.2(DVL1):c.1249_1256dupGCCAATGC (p.Val420Profs) http://identifiers.org/clinvar/373512 ^@ NM_020435.3(GJC2):c.739_740delCGinsTC (p.Arg247Ser) http://identifiers.org/clinvar/372706 ^@ NM_001256850.1(TTN):c.70569delC (p.Phe23524Leufs) http://identifiers.org/clinvar/373762 ^@ NM_014382.3(ATP2C1):c.2335dupA (p.Ile779Asnfs) http://identifiers.org/clinvar/373262 ^@ NM_015120.4(ALMS1):c.12047G>A (p.Gly4016Asp) http://identifiers.org/clinvar/373662 ^@ NM_000722.3(CACNA2D1):c.2397T>A (p.Val799=) http://identifiers.org/clinvar/373612 ^@ NM_004519.3(KCNQ3):c.1562C>G (p.Ala521Gly) http://identifiers.org/clinvar/372859 ^@ NM_000127.2(EXT1):c.1015_1017delGGT (p.Gly339del) http://identifiers.org/clinvar/373362 ^@ NM_033305.2(VPS13A):c.799C>T (p.Arg267Ter) http://identifiers.org/clinvar/373062 ^@ NM_006772.2(SYNGAP1):c.1393delC (p.Leu465Phefs) http://identifiers.org/clinvar/372962 ^@ NM_152743.3(BRAT1):c.2125_2128delTTTG (p.Phe709Thrfs) http://identifiers.org/clinvar/373162 ^@ NM_006415.3(SPTLC1):c.1030_1031delCT (p.Leu344Valfs) http://identifiers.org/clinvar/373412 ^@ NM_020975.4(RET):c.361G>A (p.Val121Ile) http://identifiers.org/clinvar/373012 ^@ NM_001844.4(COL2A1):c.2407_2409delAAG (p.Lys803del) http://identifiers.org/clinvar/373462 ^@ NM_002692.3(POLE2):c.400T>C (p.Tyr134His) http://identifiers.org/clinvar/373562 ^@ NM_001160147.1(DDHD1):c.2320C>T (p.Arg774Cys) http://identifiers.org/clinvar/373212 ^@ NM_002693.2(POLG):c.2597G>A (p.Arg866Gln) http://identifiers.org/clinvar/372806 ^@ NM_000479.4(AMH):c.208dupC (p.Leu70Profs) http://identifiers.org/clinvar/372756 ^@ NM_000267.3(NF1):c.669G>A (p.Trp223Ter) http://identifiers.org/clinvar/372910 ^@ NM_001127221.1(CACNA1A):c.4386G>A (p.Trp1462Ter) http://identifiers.org/clinvar/373312 ^@ NM_020461.3(TUBGCP6):c.1100C>T (p.Thr367Met) http://identifiers.org/clinvar/373712 ^@ NM_007075.3(WDR45):c.874G>A (p.Val292Met) http://identifiers.org/clinvar/373112 ^@ NM_000489.4(ATRX):c.7147G>C (p.Asp2383His) http://identifiers.org/clinvar/373862 ^@ NG_005905.2:g.(150290_154032)_(172307_?)del http://identifiers.org/clinvar/390091 ^@ NM_022912.2(REEP1):c.270G>A (p.Lys90=) http://identifiers.org/clinvar/383773 ^@ NM_015120.4(ALMS1):c.6305C>T (p.Ser2102Leu) http://identifiers.org/clinvar/379475 ^@ NM_000784.3(CYP27A1):c.1477-2A>C http://identifiers.org/clinvar/385513 ^@ NM_017849.3(TMEM127):c.-132+17G>A http://identifiers.org/clinvar/382270 ^@ NM_183357.2(ADCY5):c.2210T>A (p.Val737Asp) http://identifiers.org/clinvar/383522 ^@ NM_020166.4(MCCC1):c.438A>G (p.Gly146=) http://identifiers.org/clinvar/379225 ^@ NM_198056.2(SCN5A):c.4437+5G>A http://identifiers.org/clinvar/385413 ^@ NM_015340.3(LARS2):c.219A>G (p.Lys73=) http://identifiers.org/clinvar/382971 ^@ NM_015340.3(LARS2):c.324C>T (p.Ser108=) http://identifiers.org/clinvar/385713 ^@ NM_001135659.2(NRXN1):c.3364+18T>A http://identifiers.org/clinvar/385813 ^@ NM_006005.3(WFS1):c.316-14T>C http://identifiers.org/clinvar/377626 ^@ NM_033337.2(CAV3):c.-47C>T http://identifiers.org/clinvar/385213 ^@ NM_024577.3(SH3TC2):c.1764C>T (p.Gly588=) http://identifiers.org/clinvar/387952 ^@ NM_000038.5(APC):c.1203G>A (p.Arg401=) http://identifiers.org/clinvar/390541 ^@ NM_033071.3(SYNE1):c.12582-19C>A http://identifiers.org/clinvar/381618 ^@ NM_001135243.1(TCOF1):c.50A>G (p.His17Arg) http://identifiers.org/clinvar/381869 ^@ NM_005051.2(QARS):c.163C>T (p.Leu55=) http://identifiers.org/clinvar/385113 ^@ NM_004656.3(BAP1):c.2145T>C (p.Pro715=) http://identifiers.org/clinvar/377476 ^@ NM_001148.4(ANK2):c.3379+4C>A http://identifiers.org/clinvar/388252 ^@ NM_001167734.1(VARS2):c.2763+11A>G http://identifiers.org/clinvar/385463 ^@ NM_014141.5(CNTNAP2):c.813G>A (p.Leu271=) http://identifiers.org/clinvar/377826 ^@ NM_018100.3(EFHC1):c.1584C>T (p.Leu528=) http://identifiers.org/clinvar/379075 ^@ NM_018368.3(LMBRD1):c.562+18T>A http://identifiers.org/clinvar/380176 ^@ NM_001167734.1(VARS2):c.2418C>T (p.Ser806=) http://identifiers.org/clinvar/386013 ^@ NM_000535.6(PMS2):c.1026A>G (p.Gln342=) http://identifiers.org/clinvar/382871 ^@ NM_001458.4(FLNC):c.2889G>A (p.Pro963=) http://identifiers.org/clinvar/387852 ^@ NM_000238.3(KCNH2):c.1602C>T (p.Arg534=) http://identifiers.org/clinvar/393240 ^@ NM_000089.3(COL1A2):c.1654C>T (p.Pro552Ser) http://identifiers.org/clinvar/381218 ^@ NM_000941.2(POR):c.1975G>A (p.Ala659Thr) http://identifiers.org/clinvar/390591 ^@ NM_004519.3(KCNQ3):c.*9A>G http://identifiers.org/clinvar/385363 ^@ NM_020822.2(KCNT1):c.600+11G>A http://identifiers.org/clinvar/381318 ^@ NM_138361.5(LRSAM1):c.620-3C>T http://identifiers.org/clinvar/389002 ^@ NM_004408.3(DNM1):c.849+6C>T http://identifiers.org/clinvar/390291 ^@ NM_004408.3(DNM1):c.1782-9A>G http://identifiers.org/clinvar/383121 ^@ NM_007171.3(POMT1):c.539+3A>G http://identifiers.org/clinvar/385313 ^@ NM_000255.3(MUT):c.1944C>A (p.Gly648=) http://identifiers.org/clinvar/388602 ^@ NM_004722.3(AP4M1):c.496C>T (p.Pro166Ser) http://identifiers.org/clinvar/382470 ^@ NM_000050.4(ASS1):c.773+45C>T http://identifiers.org/clinvar/133005 ^@ NM_000540.2(RYR1):c.11120G>T (p.Arg3707Leu) http://identifiers.org/clinvar/133055 ^@ NM_000540.2(RYR1):c.13994_13995delTCinsCT (p.Leu4665Pro) http://identifiers.org/clinvar/133105 ^@ NM_000540.2(RYR1):c.165+74G>C http://identifiers.org/clinvar/133155 ^@ NM_000540.2(RYR1):c.6274+55C>T http://identifiers.org/clinvar/133205 ^@ NM_000540.2(RYR1):c.7500G>T (p.Ala2500=) http://identifiers.org/clinvar/133281 ^@ NM_000546.5(TP53):c.413delC (p.Lys139Argfs) http://identifiers.org/clinvar/133347 ^@ NM_001080516.1(GRXCR2):c.714dupT (p.Gly239Trpfs) http://identifiers.org/clinvar/133397 ^@ NM_003820.3(TNFRSF14):c.304+642C>T http://identifiers.org/clinvar/133447 ^@ NM_007313.2(ABL1):c.2987G>A (p.Ser996Asn) http://identifiers.org/clinvar/133497 ^@ NM_152424.3(AMER1):c.2015G>A (p.Gly672Glu) http://identifiers.org/clinvar/133548 ^@ NM_006015.4(ARID1A):c.3967C>T (p.Arg1323Cys) http://identifiers.org/clinvar/133598 ^@ NM_015338.5(ASXL1):c.4189G>A (p.Gly1397Ser) http://identifiers.org/clinvar/133648 ^@ NM_000489.4(ATRX):c.2513A>G (p.Lys838Arg) http://identifiers.org/clinvar/135286 ^@ NM_016169.3(SUFU):c.1105G>A (p.Val369Ile) http://identifiers.org/clinvar/135336 ^@ NM_006290.3(TNFAIP3):c.742A>G (p.Ile248Val) http://identifiers.org/clinvar/135386 ^@ NM_000548.4(TSC2):c.4106G>A (p.Arg1369Gln) http://identifiers.org/clinvar/135437 ^@ NM_000553.4(WRN):c.3875C>A (p.Ser1292Tyr) http://identifiers.org/clinvar/135487 ^@ NM_004628.4(XPC):c.1000C>T (p.Pro334Ser) http://identifiers.org/clinvar/135537 ^@ NM_004456.4(EZH2):c.1240+48G>A http://identifiers.org/clinvar/135601 ^@ NM_002136.3(HNRNPA1):c.850A>G (p.Arg284Gly) http://identifiers.org/clinvar/135663 ^@ NM_001267822.1(ZMYND15):c.1520_1523delAACA (p.Lys507Serfs) http://identifiers.org/clinvar/135723 ^@ NM_000038.5(APC):c.8162G>A (p.Arg2721His) http://identifiers.org/clinvar/135774 ^@ NM_000051.3(ATM):c.6795C>T (p.Phe2265=) http://identifiers.org/clinvar/186137 ^@ NM_007294.3(BRCA1):c.5419A>G (p.Ile1807Val) http://identifiers.org/clinvar/185687 ^@ NM_007294.3(BRCA1):c.987T>C (p.Asn329=) http://identifiers.org/clinvar/185737 ^@ NM_032043.2(BRIP1):c.1230_1251del22 (p.Thr411Leufs) http://identifiers.org/clinvar/185987 ^@ NM_032043.2(BRIP1):c.890delA (p.Lys297Serfs) http://identifiers.org/clinvar/185487 ^@ NM_000546.5(TP53):c.920-5C>T http://identifiers.org/clinvar/184048 ^@ NM_000546.5(TP53):c.558T>C (p.Asp186=) http://identifiers.org/clinvar/186537 ^@ NM_007194.3(CHEK2):c.186C>T (p.Ser62=) http://identifiers.org/clinvar/189261 ^@ NM_003632.2(CNTNAP1):c.3009dupT (p.Glu1004Terfs) http://identifiers.org/clinvar/189313 ^@ NM_001098.2(ACO2):c.2208G>C (p.Lys736Asn) http://identifiers.org/clinvar/189398 ^@ NM_000314.6(PTEN):c.70G>T (p.Asp24Tyr) http://identifiers.org/clinvar/189462 ^@ NM_000314.6(PTEN):c.80-1G>C http://identifiers.org/clinvar/189633 ^@ NM_004992.3(MECP2):c.(?_1017)_(1397_?)del (p.(?)) http://identifiers.org/clinvar/189733 ^@ NM_004992.3(MECP2):c.894_1095del202 (p.Glu298Aspfs) http://identifiers.org/clinvar/189533 ^@ NM_003159.2(CDKL5):c.2389G>A (p.Asp797Asn) http://identifiers.org/clinvar/189583 ^@ NM_003159.2(CDKL5):c.2704C>T (p.Gln902Ter) http://identifiers.org/clinvar/189683 ^@ NM_004992.3:c.(?_27)_(*8554_?)del http://identifiers.org/clinvar/189784 ^@ NM_138387.3(G6PC3):c.935dupT (p.Asn313Glnfs) http://identifiers.org/clinvar/189867 ^@ NM_001165963.1(SCN1A):c.2876G>A (p.Cys959Tyr) http://identifiers.org/clinvar/189917 ^@ NM_001165963.1(SCN1A):c.2353A>G (p.Met785Val) http://identifiers.org/clinvar/190017 ^@ NM_001165963.1(SCN1A):c.1024G>T (p.Ala342Ser) http://identifiers.org/clinvar/189967 ^@ NM_001165963.1(SCN1A):c.383+1A>G http://identifiers.org/clinvar/190202 ^@ NM_001110556.1(FLNA):c.6355_6356delAA (p.Lys2119Valfs) http://identifiers.org/clinvar/242599 ^@ NM_018249.5(CDK5RAP2):c.3695A>G (p.Asn1232Ser) http://identifiers.org/clinvar/226676 ^@ NM_001101426.3(ISPD):c.685-13_685-11dupGTT http://identifiers.org/clinvar/227558 ^@ NM_001018116.2(CAVIN4):c.519G>C (p.Ser173=) http://identifiers.org/clinvar/229048 ^@ NM_006393.2(NEBL):c.989A>G (p.Asn330Ser) http://identifiers.org/clinvar/228498 ^@ NM_022124.5(CDH23):c.5789A>G (p.Asp1930Gly) http://identifiers.org/clinvar/229248 ^@ NM_001098668.3(SFTPA2):c.371-13C>G http://identifiers.org/clinvar/229198 ^@ NM_002906.3(RDX):c.256C>G (p.Pro86Ala) http://identifiers.org/clinvar/229298 ^@ NM_005422.2(TECTA):c.3317G>A (p.Gly1106Asp) http://identifiers.org/clinvar/229598 ^@ NM_153676.3(USH1C):c.1013A>C (p.Glu338Ala) http://identifiers.org/clinvar/226876 ^@ NM_001277269.1(OTOG):c.2808C>T (p.His936=) http://identifiers.org/clinvar/229098 ^@ NM_001277269.1(OTOG):c.6929G>A (p.Arg2310His) http://identifiers.org/clinvar/229148 ^@ NM_004572.3(PKP2):c.811G>A (p.Val271Ile) http://identifiers.org/clinvar/227658 ^@ NM_005379.3(MYO1A):c.2684T>C (p.Met895Thr) http://identifiers.org/clinvar/226926 ^@ NM_173591.3(OTOGL):c.1099A>G (p.Ile367Val) http://identifiers.org/clinvar/226626 ^@ NM_000115.4(EDNRB):c.561C>T (p.Ile187=) http://identifiers.org/clinvar/228898 ^@ NM_002471.3(MYH6):c.879C>G (p.Asn293Lys) http://identifiers.org/clinvar/226526 ^@ NM_004086.2(COCH):c.1269C>T (p.Asp423=) http://identifiers.org/clinvar/228848 ^@ NM_002755.3(MAP2K1):c.803C>T (p.Ala268Val) http://identifiers.org/clinvar/228348 ^@ NC_000016.10:g.(?_86510584)_(86513143_?)del http://identifiers.org/clinvar/226576 ^@ NM_178452.5(DNAAF1):c.1848G>A (p.Ala616=) http://identifiers.org/clinvar/228948 ^@ NM_016239.3(MYO15A):c.349_357delTACGGCCGC (p.Tyr117_Arg119del) http://identifiers.org/clinvar/226776 ^@ NM_016239.3(MYO15A):c.1158C>T (p.Gly386=) http://identifiers.org/clinvar/226826 ^@ NM_003803.3(MYOM1):c.4685+11G>T http://identifiers.org/clinvar/228798 ^@ NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) http://identifiers.org/clinvar/228698 ^@ NM_133261.2(GIPC3):c.50C>G (p.Ala17Gly) http://identifiers.org/clinvar/228398 ^@ NM_006941.3(SOX10):c.(?_698)_(1401_?)del (p.(?)) http://identifiers.org/clinvar/227608 ^@ NM_002473.5(MYH9):c.3561C>A (p.Ile1187=) http://identifiers.org/clinvar/228448 ^@ NM_001692.3(ATP6V1B1):c.305G>A (p.Arg102Lys) http://identifiers.org/clinvar/228998 ^@ NM_000260.3(MYO7A):c.1138G>A (p.Glu380Lys) http://identifiers.org/clinvar/231139 ^@ NM_000249.3(MLH1):c.1876T>C (p.Phe626Leu) http://identifiers.org/clinvar/233479 ^@ NM_001128425.1(MUTYH):c.736G>A (p.Val246Ile) http://identifiers.org/clinvar/233129 ^@ NM_001128425.1(MUTYH):c.215C>T (p.Pro72Leu) http://identifiers.org/clinvar/232439 ^@ NM_000465.3(BARD1):c.2224T>A (p.Leu742Met) http://identifiers.org/clinvar/231739 ^@ NM_000465.3(BARD1):c.729T>C (p.Cys243=) http://identifiers.org/clinvar/231239 ^@ NM_000465.3(BARD1):c.171G>A (p.Leu57=) http://identifiers.org/clinvar/230889 ^@ NM_000251.2(MSH2):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/233629 ^@ NM_000251.2(MSH2):c.212-1_221delGGAGCAAAGAAinsCAC http://identifiers.org/clinvar/231639 ^@ NM_000179.2(MSH6):c.3565A>G (p.Thr1189Ala) http://identifiers.org/clinvar/231039 ^@ NM_000249.3(MLH1):c.1839G>T (p.Glu613Asp) http://identifiers.org/clinvar/264581 ^@ NM_005477.2(HCN4):c.2064C>T (p.Asn688=) http://identifiers.org/clinvar/264331 ^@ NM_001456.3(FLNA):c.7772C>A (p.Thr2591Asn) http://identifiers.org/clinvar/264114 ^@ NM_004006.2(DMD):c.5349G>A (p.Leu1783=) http://identifiers.org/clinvar/263372 ^@ NM_004415.2:c.2091A>G http://identifiers.org/clinvar/264691 ^@ NC_000011.10:g.(?_108365082)_(108365508_?)del http://identifiers.org/clinvar/264746 ^@ NM_001242896.1(DEPDC5):c.4397G>A (p.Trp1466Ter) http://identifiers.org/clinvar/264851 ^@ NM_007294.3(BRCA1):c.5277+2029G>C http://identifiers.org/clinvar/264801 ^@ NM_007294.3(BRCA1):c.4186-1457del http://identifiers.org/clinvar/265651 ^@ NM_020732.3(ARID1B):c.3550+1G>A http://identifiers.org/clinvar/265601 ^@ NM_001197104.1(KMT2A):c.10217C>A (p.Ser3406Ter) http://identifiers.org/clinvar/265701 ^@ NM_207122.1(EXT2):c.87_88delCT (p.Phe30Leufs) http://identifiers.org/clinvar/290901 ^@ NM_000458.3(HNF1B):c.1207A>T (p.Ile403Phe) http://identifiers.org/clinvar/290951 ^@ NM_001701.3(BAAT):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/291001 ^@ NM_001030311.2(CERKL):c.1425T>A (p.Tyr475Ter) http://identifiers.org/clinvar/291051 ^@ NM_000392.4(ABCC2):c.2620+10_2620+12delAAG http://identifiers.org/clinvar/291101 ^@ NM_000137.2(FAH):c.1259G>A (p.Ter420=) http://identifiers.org/clinvar/291880 ^@ NM_013319.2(UBIAD1):c.*612T>C http://identifiers.org/clinvar/291780 ^@ NM_006610.3(MASP2):c.1590C>T (p.Asp530=) http://identifiers.org/clinvar/291930 ^@ NM_000036.2(AMPD1):c.1572C>T (p.Ile524=) http://identifiers.org/clinvar/291830 ^@ NM_003051.3(SLC16A1):c.*1624A>G http://identifiers.org/clinvar/292769 ^@ NM_001111.4(ADAR):c.1934+12G>A http://identifiers.org/clinvar/292869 ^@ NM_022367.3(SEMA4A):c.*666C>A http://identifiers.org/clinvar/292919 ^@ NM_003126.2(SPTA1):c.*296G>T http://identifiers.org/clinvar/293019 ^@ NM_003126.2(SPTA1):c.2267T>C (p.Ile756Thr) http://identifiers.org/clinvar/293169 ^@ NM_000702.3(ATP1A2):c.*1284C>A http://identifiers.org/clinvar/292819 ^@ NM_000298.5(PKLR):c.121C>T (p.Arg41Trp) http://identifiers.org/clinvar/293419 ^@ NM_004431.4(EPHA2):c.1896G>A (p.Leu632=) http://identifiers.org/clinvar/293069 ^@ NM_002241.4(KCNJ10):c.*3840T>C http://identifiers.org/clinvar/293819 ^@ NM_003000.2(SDHB):c.-135G>A http://identifiers.org/clinvar/293619 ^@ NM_000130.4(F5):c.2743A>T (p.Thr915Ser) http://identifiers.org/clinvar/293869 ^@ NM_033343.3(LHX4):c.837C>T (p.Asp279=) http://identifiers.org/clinvar/293769 ^@ NM_022089.3(ATP13A2):c.3297C>T (p.Pro1099=) http://identifiers.org/clinvar/293669 ^@ NM_152281.2(GORAB):c.*653T>C http://identifiers.org/clinvar/293719 ^@ NM_000261.1(MYOC):c.335A>G (p.Glu112Gly) http://identifiers.org/clinvar/292969 ^@ NM_003126.2(SPTA1):c.5566-11T>C http://identifiers.org/clinvar/293119 ^@ NM_002241.4(KCNJ10):c.405C>T (p.Tyr135=) http://identifiers.org/clinvar/293969 ^@ NM_002065.6(GLUL):c.-680C>A http://identifiers.org/clinvar/293219 ^@ NM_002857.3(PEX19):c.*469C>T http://identifiers.org/clinvar/293269 ^@ NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) http://identifiers.org/clinvar/293319 ^@ NM_003001.3(SDHC):c.489T>C (p.Ser163=) http://identifiers.org/clinvar/293369 ^@ NM_003001.3(SDHC):c.*2274G>A http://identifiers.org/clinvar/293469 ^@ NM_005149.2(TBX19):c.603+43_603+48delGTGTGT http://identifiers.org/clinvar/293519 ^@ NM_006996.2(SLC19A2):c.*255A>T http://identifiers.org/clinvar/293569 ^@ NM_000130.4(F5):c.*149C>G http://identifiers.org/clinvar/294708 ^@ NM_000069.2(CACNA1S):c.5008T>A (p.Tyr1670Asn) http://identifiers.org/clinvar/294858 ^@ NM_001005337.2(PKP1):c.*1032C>T http://identifiers.org/clinvar/294808 ^@ NM_001005337.2(PKP1):c.586A>G (p.Ile196Val) http://identifiers.org/clinvar/294958 ^@ NM_000537.3(REN):c.492+12C>T http://identifiers.org/clinvar/295008 ^@ NM_032409.2(PINK1):c.1698G>A (p.Thr566=) http://identifiers.org/clinvar/335914 ^@ NM_000104.3(CYP1B1):c.*2314dupT http://identifiers.org/clinvar/336014 ^@ NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) http://identifiers.org/clinvar/344500 ^@ NM_015560.2(OPA1):c.*1113C>T http://identifiers.org/clinvar/336421 ^@ NM_002354.2(EPCAM):c.*265A>T http://identifiers.org/clinvar/344700 ^@ NM_003242.5(TGFBR2):c.*1682A>G http://identifiers.org/clinvar/344750 ^@ NM_015141.3(GPD1L):c.*1065T>G http://identifiers.org/clinvar/336314 ^@ NM_001430.4(EPAS1):c.*1278C>T http://identifiers.org/clinvar/336771 ^@ NM_015910.5(WDPCP):c.75+13C>T http://identifiers.org/clinvar/344050 ^@ NM_001041.3(SI):c.1716-13G>A http://identifiers.org/clinvar/344100 ^@ NM_000055.3(BCHE):c.-131A>G http://identifiers.org/clinvar/345050 ^@ NM_001106.3(ACVR2B):c.*9398_*9399insATTA http://identifiers.org/clinvar/344150 ^@ NM_000340.1(SLC2A2):c.*476T>C http://identifiers.org/clinvar/336521 ^@ NM_001135659.2(NRXN1):c.*1241_*1246delACACAC http://identifiers.org/clinvar/345150 ^@ NM_017875.2(SLC25A38):c.570C>A (p.Pro190=) http://identifiers.org/clinvar/344200 ^@ NM_198407.2(GHSR):c.447C>G (p.Leu149=) http://identifiers.org/clinvar/344250 ^@ NM_181426.1(CCDC39):c.*499A>C http://identifiers.org/clinvar/336671 ^@ NM_002618.3(PEX13):c.1158G>A (p.Lys386=) http://identifiers.org/clinvar/344400 ^@ NM_003722.4(TP63):c.*519C>T http://identifiers.org/clinvar/336821 ^@ NM_002056.3(GFPT1):c.*3091A>C http://identifiers.org/clinvar/344550 ^@ NM_000461.4(THRB):c.*4824C>T http://identifiers.org/clinvar/344850 ^@ NM_006371.4(CRTAP):c.*2302G>A http://identifiers.org/clinvar/344950 ^@ NM_001106.3(ACVR2B):c.*1656A>T http://identifiers.org/clinvar/345000 ^@ NM_001106.3(ACVR2B):c.*5256A>G http://identifiers.org/clinvar/346039 ^@ NM_000481.3(AMT):c.-76G>C http://identifiers.org/clinvar/345350 ^@ NM_020208.3(SLC6A20):c.*2676T>A http://identifiers.org/clinvar/346539 ^@ NM_000248.3(MITF):c.*2580C>T http://identifiers.org/clinvar/346589 ^@ NM_032682.5(FOXP1):c.*2312T>C http://identifiers.org/clinvar/342261 ^@ NM_033084.4(FANCD2):c.1170C>T (p.Ser390=) http://identifiers.org/clinvar/342511 ^@ NM_000551.3(VHL):c.*3625T>A http://identifiers.org/clinvar/346789 ^@ NM_000158.3(GBE1):c.1406A>G (p.Tyr469Cys) http://identifiers.org/clinvar/342361 ^@ NM_016247.3(IMPG2):c.-44A>G http://identifiers.org/clinvar/346889 ^@ NM_000313.3(PROS1):c.601+12A>G http://identifiers.org/clinvar/342461 ^@ NM_000551.3(VHL):c.*2093delC http://identifiers.org/clinvar/346939 ^@ NM_177976.3(ARL6):c.-196A>C http://identifiers.org/clinvar/347089 ^@ NM_005908.3(MANBA):c.1682C>T (p.Pro561Leu) http://identifiers.org/clinvar/347189 ^@ NM_198506.4(LRIT3):c.1238C>T (p.Ser413Phe) http://identifiers.org/clinvar/347289 ^@ NM_153427.2(PITX2):c.*572T>C http://identifiers.org/clinvar/347339 ^@ NM_001148.4(ANK2):c.9180A>G (p.Lys3060=) http://identifiers.org/clinvar/347439 ^@ NM_018699.3(PRDM5):c.1066T>A (p.Ser356Thr) http://identifiers.org/clinvar/346189 ^@ NM_052859.3(RFT1):c.831G>A (p.Val277=) http://identifiers.org/clinvar/346239 ^@ NM_003392.4(WNT5A):c.*1953dupT http://identifiers.org/clinvar/346439 ^@ NM_198859.3(PRICKLE2):c.*2724C>A http://identifiers.org/clinvar/347839 ^@ NM_001080522.2(CC2D2A):c.2486+9T>C http://identifiers.org/clinvar/343950 ^@ NM_024996.5(GFM1):c.*950C>T http://identifiers.org/clinvar/358256 ^@ NM_014165.3(NDUFAF4):c.*1062T>G http://identifiers.org/clinvar/354166 ^@ NM_003719.3(PDE8B):c.1921G>A (p.Asp641Asn) http://identifiers.org/clinvar/354316 ^@ NM_000046.3(ARSB):c.-112G>C http://identifiers.org/clinvar/354416 ^@ NM_004385.4(VCAN):c.3204C>T (p.Gly1068=) http://identifiers.org/clinvar/358745 ^@ NM_000492.3(CFTR):c.*1031A>G http://identifiers.org/clinvar/354366 ^@ NM_002454.2(MTRR):c.*167A>G http://identifiers.org/clinvar/354616 ^@ NM_000439.4(PCSK1):c.*1571A>G http://identifiers.org/clinvar/354466 ^@ NM_004385.4(VCAN):c.9481C>G (p.Leu3161Val) http://identifiers.org/clinvar/354666 ^@ NM_005068.2(SIM1):c.*589G>A http://identifiers.org/clinvar/354766 ^@ NM_020381.3(PDSS2):c.*1C>T http://identifiers.org/clinvar/359245 ^@ NM_014141.5(CNTNAP2):c.*3392C>T http://identifiers.org/clinvar/354716 ^@ NM_001491.2(GCNT2):c.*225G>A http://identifiers.org/clinvar/354816 ^@ NM_007214.4(SEC63):c.*3501A>G http://identifiers.org/clinvar/355267 ^@ NM_000426.3(LAMA2):c.3750G>T (p.Gly1250=) http://identifiers.org/clinvar/355117 ^@ NM_001010892.2(RSPH4A):c.-88A>G http://identifiers.org/clinvar/355167 ^@ NM_000165.4(GJA1):c.*173G>A http://identifiers.org/clinvar/355217 ^@ NM_006073.3(TRDN):c.932-6C>A http://identifiers.org/clinvar/364693 ^@ NM_015404.3(WHRN):c.1161G>A (p.Ser387=) http://identifiers.org/clinvar/364843 ^@ NM_000177.4(GSN):c.*205G>A http://identifiers.org/clinvar/364993 ^@ NM_002316.3(LMX1B):c.*4206G>A http://identifiers.org/clinvar/365093 ^@ NM_000118.3(ENG):c.361-12_361-11delAT http://identifiers.org/clinvar/365243 ^@ NM_054012.3(ASS1):c.-233G>T http://identifiers.org/clinvar/356406 ^@ NM_080680.2(COL11A2):c.1381G>T (p.Gly461Cys) http://identifiers.org/clinvar/365493 ^@ NM_000368.4(TSC1):c.*651C>G http://identifiers.org/clinvar/356756 ^@ NM_000322.4(PRPH2):c.*1001C>A http://identifiers.org/clinvar/365643 ^@ NM_000787.3(DBH):c.735C>T (p.His245=) http://identifiers.org/clinvar/356956 ^@ NM_006502.2(POLH):c.*1984A>G http://identifiers.org/clinvar/356806 ^@ NM_000287.3(PEX6):c.295C>T (p.Arg99Trp) http://identifiers.org/clinvar/365894 ^@ NM_019892.5(INPP5E):c.21T>C (p.Asn7=) http://identifiers.org/clinvar/356906 ^@ NM_006502.2(POLH):c.1074+7T>G http://identifiers.org/clinvar/357156 ^@ NM_012120.2(CD2AP):c.-197C>T http://identifiers.org/clinvar/303285 ^@ NM_022370.3(ROBO3):c.*68C>G http://identifiers.org/clinvar/303385 ^@ NM_016952.4(CDON):c.*3490T>C http://identifiers.org/clinvar/303435 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACACACACATA http://identifiers.org/clinvar/311623 ^@ NM_018451.4(CENPJ):c.1430C>T (p.Thr477Met) http://identifiers.org/clinvar/367512 ^@ NM_004560.3(ROR2):c.751C>T (p.Leu251=) http://identifiers.org/clinvar/311723 ^@ NM_004795.3(KL):c.*1182T>C http://identifiers.org/clinvar/367662 ^@ NM_000264.3(PTCH1):c.*168C>A http://identifiers.org/clinvar/311823 ^@ NM_001127217.2(SMAD9):c.*3560_*3561delTA http://identifiers.org/clinvar/311873 ^@ NM_001127217.2(SMAD9):c.*733G>A http://identifiers.org/clinvar/312023 ^@ NM_207361.5(FREM2):c.8061G>A (p.Gly2687=) http://identifiers.org/clinvar/303935 ^@ NM_003282.3(TNNI2):c.61G>A (p.Val21Met) http://identifiers.org/clinvar/312073 ^@ NM_207361.5(FREM2):c.*2504T>C http://identifiers.org/clinvar/312173 ^@ NM_014252.3(SLC25A15):c.-101C>G http://identifiers.org/clinvar/367462 ^@ NM_058179.3(PSAT1):c.*241C>A http://identifiers.org/clinvar/304185 ^@ NM_022725.3(FANCF):c.*819C>T http://identifiers.org/clinvar/298647 ^@ NM_017649.4(CNNM2):c.2073+14T>C http://identifiers.org/clinvar/367562 ^@ NM_000507.3(FBP1):c.-154C>G http://identifiers.org/clinvar/312423 ^@ NM_001004127.2(ALG11):c.*515A>G http://identifiers.org/clinvar/367612 ^@ NM_000136.2(FANCC):c.-172G>T http://identifiers.org/clinvar/312623 ^@ NM_001376.4(DYNC1H1):c.2211T>A (p.Val737=) http://identifiers.org/clinvar/312673 ^@ NM_022489.3(INF2):c.-85G>A http://identifiers.org/clinvar/304485 ^@ NM_003477.2(PDHX):c.*763G>A http://identifiers.org/clinvar/298597 ^@ NM_016169.3(SUFU):c.*1997A>G http://identifiers.org/clinvar/299586 ^@ NM_201590.2(CACNB2):c.*565G>A http://identifiers.org/clinvar/299636 ^@ NM_017433.4(MYO3A):c.-302G>C http://identifiers.org/clinvar/299686 ^@ NM_017433.4(MYO3A):c.*399dupT http://identifiers.org/clinvar/305376 ^@ NM_016938.4(EFEMP2):c.*3A>G http://identifiers.org/clinvar/300036 ^@ NM_000124.3(ERCC6):c.4322C>T (p.Thr1441Ile) http://identifiers.org/clinvar/300186 ^@ NM_033056.3(PCDH15):c.2768C>T (p.Pro923Leu) http://identifiers.org/clinvar/306076 ^@ NM_005472.4(KCNE3):c.*404C>T http://identifiers.org/clinvar/300486 ^@ NM_022124.5(CDH23):c.*117dupA http://identifiers.org/clinvar/299986 ^@ NM_002900.2(RBP3):c.1179A>G (p.Thr393=) http://identifiers.org/clinvar/300636 ^@ NM_004273.4(CHST3):c.*2718G>A http://identifiers.org/clinvar/315722 ^@ NM_005159.4(ACTC1):c.-194C>A http://identifiers.org/clinvar/300736 ^@ NM_002658.4(PLAU):c.-25C>T http://identifiers.org/clinvar/317762 ^@ NM_004862.3(LITAF):c.*882G>A http://identifiers.org/clinvar/329445 ^@ NM_014297.4(ETHE1):c.9G>A (p.Glu3=) http://identifiers.org/clinvar/317912 ^@ NM_001287.5(CLCN7):c.*1389A>C http://identifiers.org/clinvar/309929 ^@ NM_004984.2(KIF5A):c.-193G>A http://identifiers.org/clinvar/309979 ^@ NM_000075.3(CDK4):c.690T>C (p.Ile230=) http://identifiers.org/clinvar/310029 ^@ NM_001172696.1(TSFM):c.*958C>G http://identifiers.org/clinvar/310079 ^@ NM_000552.4(VWF):c.1862G>C (p.Cys621Ser) http://identifiers.org/clinvar/318314 ^@ NM_000548.4(TSC2):c.1743C>A (p.Ser581Arg) http://identifiers.org/clinvar/318414 ^@ NM_001089.2(ABCA3):c.3363C>T (p.Ser1121=) http://identifiers.org/clinvar/318364 ^@ NM_001039.3(SCNN1G):c.*236C>T http://identifiers.org/clinvar/330434 ^@ NM_000208.3(INSR):c.*280G>A http://identifiers.org/clinvar/312223 ^@ NM_003701.3(TNFSF11):c.-81C>A http://identifiers.org/clinvar/312373 ^@ NM_000053.3(ATP7B):c.*190C>T http://identifiers.org/clinvar/312473 ^@ NM_052910.2(SLITRK1):c.*2203T>C http://identifiers.org/clinvar/319604 ^@ NM_002968.2(SALL1):c.3222G>A (p.Ala1074=) http://identifiers.org/clinvar/319904 ^@ NM_000339.2(SLC12A3):c.1412C>A (p.Ala471Asp) http://identifiers.org/clinvar/319954 ^@ NM_000339.2(SLC12A3):c.*1647C>T http://identifiers.org/clinvar/311523 ^@ NM_014363.5(SACS):c.7713A>T (p.Pro2571=) http://identifiers.org/clinvar/311573 ^@ NM_014363.5(SACS):c.99T>C (p.Asp33=) http://identifiers.org/clinvar/320154 ^@ NM_004614.4(TK2):c.*451G>A http://identifiers.org/clinvar/320254 ^@ NM_001793.5(CDH3):c.2419G>A (p.Asp807Asn) http://identifiers.org/clinvar/320354 ^@ NM_001605.2(AARS):c.333+3A>C http://identifiers.org/clinvar/311773 ^@ NM_015087.4(SPG20):c.-118C>A http://identifiers.org/clinvar/320504 ^@ NM_021615.4(CHST6):c.*5452G>C http://identifiers.org/clinvar/320554 ^@ NM_021615.4(CHST6):c.*2210C>G http://identifiers.org/clinvar/339271 ^@ NM_001853.3(COL9A3):c.441C>T (p.Pro147=) http://identifiers.org/clinvar/320754 ^@ NM_012213.2(MLYCD):c.*460A>C http://identifiers.org/clinvar/339371 ^@ NM_025219.2(DNAJC5):c.*727C>G http://identifiers.org/clinvar/339421 ^@ NM_025219.2(DNAJC5):c.*3204C>T http://identifiers.org/clinvar/321104 ^@ NM_020686.5(ABAT):c.*512G>A http://identifiers.org/clinvar/312123 ^@ NM_207361.5(FREM2):c.*6297C>A http://identifiers.org/clinvar/321004 ^@ NM_001127464.2(ZNF469):c.9237G>A (p.Pro3079=) http://identifiers.org/clinvar/339621 ^@ NM_000484.3(APP):c.*914G>A http://identifiers.org/clinvar/339721 ^@ NM_000219.5(KCNE1):c.*2529C>T http://identifiers.org/clinvar/339771 ^@ NM_000219.5(KCNE1):c.*30C>G http://identifiers.org/clinvar/339821 ^@ NM_001754.4(RUNX1):c.*2770C>G http://identifiers.org/clinvar/321304 ^@ NM_000135.2(FANCA):c.*986G>A http://identifiers.org/clinvar/339871 ^@ NM_001754.4(RUNX1):c.*88G>T http://identifiers.org/clinvar/312273 ^@ NM_003850.2(SUCLA2):c.21C>T (p.Tyr7=) http://identifiers.org/clinvar/339921 ^@ NM_000411.6(HLCS):c.*2545C>A http://identifiers.org/clinvar/321747 ^@ NM_002470.3(MYH3):c.2486C>T (p.Pro829Leu) http://identifiers.org/clinvar/321797 ^@ NM_004589.3(SCO1):c.259C>T (p.Pro87Ser) http://identifiers.org/clinvar/340321 ^@ NM_001848.2(COL6A1):c.1694G>A (p.Arg565Gln) http://identifiers.org/clinvar/321847 ^@ NM_000304.3(PMP22):c.*1049C>G http://identifiers.org/clinvar/342161 ^@ NM_005198.4(CHKB):c.*208T>G http://identifiers.org/clinvar/328495 ^@ NM_000215.3(JAK3):c.*123T>C http://identifiers.org/clinvar/367862 ^@ NM_001167.3(XIAP):c.*6357G>A http://identifiers.org/clinvar/328645 ^@ NM_003721.3(RFXANK):c.514A>G (p.Ile172Val) http://identifiers.org/clinvar/367912 ^@ NM_194277.2(FRMD7):c.284+10T>G http://identifiers.org/clinvar/328945 ^@ NM_032753.3(RAX2):c.*1149C>T http://identifiers.org/clinvar/368212 ^@ NM_004006.2(DMD):c.*1448_*1449insAAGA http://identifiers.org/clinvar/328995 ^@ NM_000540.2(RYR1):c.1808G>A (p.Cys603Tyr) http://identifiers.org/clinvar/368412 ^@ NM_007137.3(ZNF81):c.*975C>G http://identifiers.org/clinvar/327745 ^@ NM_003839.3(TNFRSF11A):c.*379delC http://identifiers.org/clinvar/327895 ^@ NM_001130823.2(DNMT1):c.3394+7C>T http://identifiers.org/clinvar/328145 ^@ NM_000121.3(EPOR):c.1022C>T (p.Thr341Met) http://identifiers.org/clinvar/328295 ^@ NM_006397.2(RNASEH2A):c.758T>C (p.Ile253Thr) http://identifiers.org/clinvar/328345 ^@ NM_000156.5(GAMT):c.*151T>C http://identifiers.org/clinvar/328395 ^@ NM_000435.2(NOTCH3):c.3523C>T (p.Arg1175Trp) http://identifiers.org/clinvar/330334 ^@ NM_000064.3(C3):c.783C>T (p.Tyr261=) http://identifiers.org/clinvar/328445 ^@ NM_173483.3(CYP4F22):c.1137-15C>G http://identifiers.org/clinvar/328545 ^@ NM_000453.2(SLC5A5):c.*130A>G http://identifiers.org/clinvar/330534 ^@ NM_006702.4(PNPLA6):c.3283+11G>T http://identifiers.org/clinvar/328595 ^@ NM_005535.2(IL12RB1):c.695C>T (p.Pro232Leu) http://identifiers.org/clinvar/328695 ^@ NM_001031726.3(C19orf12):c.*1592A>G http://identifiers.org/clinvar/328745 ^@ NM_014270.4(SLC7A9):c.1225-8G>A http://identifiers.org/clinvar/328795 ^@ NM_000285.3(PEPD):c.1171G>A (p.Glu391Lys) http://identifiers.org/clinvar/329495 ^@ NM_000400.3(ERCC2):c.*205_*206insA http://identifiers.org/clinvar/339321 ^@ NM_001853.3(COL9A3):c.*409C>T http://identifiers.org/clinvar/339521 ^@ NM_015192.3(PLCB1):c.*378_*380dupATA http://identifiers.org/clinvar/330484 ^@ NM_020533.2(MCOLN1):c.-87A>T http://identifiers.org/clinvar/339971 ^@ NM_000411.6(HLCS):c.53-9A>G http://identifiers.org/clinvar/340021 ^@ NM_020639.2(RIPK4):c.1311C>T (p.Ser437=) http://identifiers.org/clinvar/340071 ^@ NM_000071.2(CBS):c.*566G>A http://identifiers.org/clinvar/340221 ^@ NM_130445.3(COL18A1):c.1428C>T (p.Phe476=) http://identifiers.org/clinvar/340471 ^@ NM_006031.5(PCNT):c.1370A>G (p.Glu457Gly) http://identifiers.org/clinvar/340521 ^@ NM_006031.5(PCNT):c.6754A>G (p.Ser2252Gly) http://identifiers.org/clinvar/340622 ^@ NM_014339.6(IL17RA):c.*379G>A http://identifiers.org/clinvar/339121 ^@ NM_207034.2(EDN3):c.43T>G (p.Ser15Ala) http://identifiers.org/clinvar/339171 ^@ NM_017671.4(FERMT1):c.*2118A>G http://identifiers.org/clinvar/341261 ^@ NM_000343.3(SLC5A1):c.1809G>A (p.Arg603=) http://identifiers.org/clinvar/341311 ^@ NM_012179.3(FBXO7):c.540A>G (p.Pro180=) http://identifiers.org/clinvar/339571 ^@ NM_000933.3(PLCB4):c.2015+8A>G http://identifiers.org/clinvar/341611 ^@ NM_006941.3(SOX10):c.*711C>T http://identifiers.org/clinvar/341811 ^@ NM_001429.3(EP300):c.5028T>C (p.His1676=) http://identifiers.org/clinvar/382671 ^@ NM_001458.4(FLNC):c.3553G>A (p.Glu1185Lys) http://identifiers.org/clinvar/390041 ^@ NM_018718.2(CEP41):c.422+7G>A http://identifiers.org/clinvar/382169 ^@ NM_000093.4(COL5A1):c.5469G>A (p.Ala1823=) http://identifiers.org/clinvar/388402 ^@ NM_001613.2(ACTA2):c.629T>A (p.Ile210Asn) http://identifiers.org/clinvar/381919 ^@ NM_004281.3(BAG3):c.1029C>A (p.Arg343=) http://identifiers.org/clinvar/378178 ^@ NM_018109.3(MTPAP):c.158-9C>T http://identifiers.org/clinvar/388502 ^@ NM_000352.4(ABCC8):c.3293G>A (p.Arg1098His) http://identifiers.org/clinvar/377876 ^@ NM_000507.3(FBP1):c.906C>T (p.Ala302=) http://identifiers.org/clinvar/385263 ^@ NM_004517.3(ILK):c.351+10C>T http://identifiers.org/clinvar/389791 ^@ NM_001916.4(CYC1):c.454-9C>T http://identifiers.org/clinvar/387452 ^@ NM_001080449.2(DNA2):c.2706G>A (p.Ala902=) http://identifiers.org/clinvar/381819 ^@ NM_030962.3(SBF2):c.4693A>G (p.Ile1565Val) http://identifiers.org/clinvar/387252 ^@ NM_006231.3(POLE):c.4689C>T (p.Thr1563=) http://identifiers.org/clinvar/382019 ^@ NM_002485.4(NBN):c.798G>A (p.Pro266=) http://identifiers.org/clinvar/379575 ^@ NM_004572.3(PKP2):c.1147C>T (p.Gln383Ter) http://identifiers.org/clinvar/383722 ^@ NM_000391.3(TPP1):c.-12C>T http://identifiers.org/clinvar/384273 ^@ NM_213599.2(ANO5):c.181-16T>C http://identifiers.org/clinvar/379725 ^@ NM_002180.2(IGHMBP2):c.-30G>C http://identifiers.org/clinvar/381168 ^@ NM_024678.5(NARS2):c.1289+7A>G http://identifiers.org/clinvar/380076 ^@ NM_006831.2(CLP1):c.898C>T (p.Arg300Cys) http://identifiers.org/clinvar/377726 ^@ NM_000093.4(COL5A1):c.2817C>T (p.Asp939=) http://identifiers.org/clinvar/393190 ^@ NM_016725.2(FOLR1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/382571 ^@ NM_006231.3(POLE):c.4444+19G>A http://identifiers.org/clinvar/380226 ^@ NM_006231.3(POLE):c.4290+5C>T http://identifiers.org/clinvar/381969 ^@ NM_000059.3(BRCA2):c.6640A>G (p.Thr2214Ala) http://identifiers.org/clinvar/387702 ^@ NM_006231.3(POLE):c.2886C>T (p.Asp962=) http://identifiers.org/clinvar/382621 ^@ NM_213595.3(ISCU):c.*13C>T http://identifiers.org/clinvar/387202 ^@ NM_022489.3(INF2):c.2611-12C>T http://identifiers.org/clinvar/379775 ^@ NM_004572.3(PKP2):c.2145+1G>C http://identifiers.org/clinvar/383672 ^@ NM_201590.2(CACNB2):c.-200089G>T http://identifiers.org/clinvar/383622 ^@ NM_014317.4(PDSS1):c.218G>A (p.Arg73His) http://identifiers.org/clinvar/388752 ^@ NM_004990.3(MARS):c.1369-11C>T http://identifiers.org/clinvar/387902 ^@ NM_020987.4(ANK3):c.4323G>C (p.Lys1441Asn) http://identifiers.org/clinvar/378078 ^@ NM_007078.2(LDB3):c.-147C>T http://identifiers.org/clinvar/388652 ^@ NM_000053.3(ATP7B):c.3160A>C (p.Arg1054=) http://identifiers.org/clinvar/377576 ^@ NM_000059.3(BRCA2):c.609C>T (p.Thr203=) http://identifiers.org/clinvar/381668 ^@ NM_000520.5(HEXA):c.748G>A (p.Gly250Ser) http://identifiers.org/clinvar/385563 ^@ NM_005249.4(FOXG1):c.915C>T (p.Ser305=) http://identifiers.org/clinvar/382119 ^@ NM_006493.2(CLN5):c.168G>C (p.Thr56=) http://identifiers.org/clinvar/379375 ^@ NM_014080.4(DUOX2):c.3516-1G>C http://identifiers.org/clinvar/392990 ^@ NM_000256.3(MYBPC3):c.187C>T (p.Arg63Trp) http://identifiers.org/clinvar/382821 ^@ NM_000138.4(FBN1):c.8004C>T (p.Gly2668=) http://identifiers.org/clinvar/382320 ^@ NM_000257.3(MYH7):c.2923-5G>A http://identifiers.org/clinvar/382370 ^@ NM_030813.5(CLPB):c.1086G>A (p.Arg362=) http://identifiers.org/clinvar/379675 ^@ NM_002693.2(POLG):c.2446C>G (p.Leu816Val) http://identifiers.org/clinvar/384323 ^@ NM_004360.4(CDH1):c.2628C>T (p.Tyr876=) http://identifiers.org/clinvar/390141 ^@ NM_021625.4(TRPV4):c.143C>T (p.Ser48Leu) http://identifiers.org/clinvar/380276 ^@ NM_000138.4(FBN1):c.1715-9T>A http://identifiers.org/clinvar/386413 ^@ NM_002474.2(MYH11):c.708C>T (p.Asn236=) http://identifiers.org/clinvar/389102 ^@ NM_006231.3(POLE):c.477T>C (p.Thr159=) http://identifiers.org/clinvar/47428 ^@ NM_133378.4(TTN):c.75914T>C (p.Val25305Ala) http://identifiers.org/clinvar/47478 ^@ NM_133378.4(TTN):c.80702C>T (p.Ala26901Val) http://identifiers.org/clinvar/47528 ^@ NM_133378.4(TTN):c.85078G>C (p.Asp28360His) http://identifiers.org/clinvar/47578 ^@ NM_133378.4(TTN):c.8938G>A (p.Ala2980Thr) http://identifiers.org/clinvar/47628 ^@ NM_133378.4(TTN):c.92755C>T (p.Pro30919Ser) http://identifiers.org/clinvar/47678 ^@ NM_133378.4(TTN):c.970C>T (p.Pro324Ser) http://identifiers.org/clinvar/47728 ^@ NM_001256850.1(TTN):c.10360+1341T>C http://identifiers.org/clinvar/47778 ^@ NM_133379.4(TTN):c.14812A>G (p.Met4938Val) http://identifiers.org/clinvar/47828 ^@ NM_001256850.1(TTN):c.11702T>C (p.Ile3901Thr) http://identifiers.org/clinvar/47878 ^@ NM_138691.2(TMC1):c.791G>C (p.Arg264Pro) http://identifiers.org/clinvar/48180 ^@ NM_194248.2(OTOF):c.1910T>C (p.Ile637Thr) http://identifiers.org/clinvar/48230 ^@ NM_194248.2(OTOF):c.4216G>A (p.Asp1406Asn) http://identifiers.org/clinvar/48280 ^@ NM_198056.2(SCN5A):c.1141-3C>A http://identifiers.org/clinvar/48331 ^@ NM_201555.1(FHL2):c.804C>T (p.Asp268=) http://identifiers.org/clinvar/93 ^@ NM_004315.5(ASAH1):c.155A>G (p.Tyr52Cys) http://identifiers.org/clinvar/226 ^@ NM_000027.3(AGA):c.127_127+1insATGCGG (p.42_43insAspAla) http://identifiers.org/clinvar/290 ^@ NM_000552.4(VWF):c.3946G>A (p.Val1316Met) http://identifiers.org/clinvar/401 ^@ NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) http://identifiers.org/clinvar/433 ^@ NM_000110.3(DPYD):c.2921A>T (p.Asp974Val) http://identifiers.org/clinvar/442 ^@ NM_005581.4(BCAM):c.711C>A (p.Cys237Ter) http://identifiers.org/clinvar/492 ^@ NM_000320.2(QDPR):c.106T>C (p.Trp36Arg) http://identifiers.org/clinvar/501 ^@ NM_173560.3(RFX6):c.779_780+12del14 http://identifiers.org/clinvar/825 ^@ APC, TYR486TER http://identifiers.org/clinvar/902 ^@ NM_000181.3(GUSB):c.1730G>T (p.Arg577Leu) http://identifiers.org/clinvar/986 ^@ NM_017774.3(CDKAL1):c.371+11426A>C http://identifiers.org/clinvar/1071 ^@ NM_001127897.3(RPGRIP1L):c.2083G>C (p.Ala695Pro) http://identifiers.org/clinvar/1080 ^@ NM_015272.4(RPGRIP1L):c.1975T>C (p.Ser659Pro) http://identifiers.org/clinvar/1390 ^@ NM_017777.3(MKS1):c.80+2T>C http://identifiers.org/clinvar/1807 ^@ CYP17A1, IVS2AS, A-C, -2 http://identifiers.org/clinvar/1852 ^@ NM_152783.4(D2HGDH):c.1331T>C (p.Val444Ala) http://identifiers.org/clinvar/1898 ^@ NM_000060.4(BTD):c.1612C>T (p.Arg538Cys) http://identifiers.org/clinvar/1942 ^@ NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) http://identifiers.org/clinvar/1988 ^@ FREM1, 1-BP DEL, 2721G http://identifiers.org/clinvar/2031 ^@ CHD7, DEL EXONS 8-12 http://identifiers.org/clinvar/2077 ^@ NM_020435.3(GJC2):c.695_696insG (p.Tyr232Terfs) http://identifiers.org/clinvar/2122 ^@ NM_207346.2(TSEN54):c.736C>T (p.Gln246Ter) http://identifiers.org/clinvar/2169 ^@ NM_007214.4(SEC63):c.733+1G>A http://identifiers.org/clinvar/2214 ^@ NM_000551.3(VHL):c.223_225delATC (p.Ile75del) http://identifiers.org/clinvar/2305 ^@ PYGM, IVS14, G-A, +1 http://identifiers.org/clinvar/2350 ^@ NM_016341.3(PLCE1):c.4451C>T (p.Ser1484Leu) http://identifiers.org/clinvar/2397 ^@ NM_000045.3(ARG1):c.61C>T (p.Arg21Ter) http://identifiers.org/clinvar/2441 ^@ NM_001173464.1(KIF21A):c.2840T>G (p.Met947Arg) http://identifiers.org/clinvar/2488 ^@ NM_018249.5(CDK5RAP2):c.246T>A (p.Tyr82Ter) http://identifiers.org/clinvar/2533 ^@ NM_022167.3(XYLT2):c.2402C>G (p.Thr801Arg) http://identifiers.org/clinvar/2580 ^@ NM_000483.4(APOC2):c.177C>G (p.Tyr59Ter) http://identifiers.org/clinvar/2626 ^@ NM_022464.4(SIL1):c.865_1029del http://identifiers.org/clinvar/2672 ^@ NM_182760.3(SUMF1):c.463T>C (p.Ser155Pro) http://identifiers.org/clinvar/2719 ^@ DSG4, EX5-8DEL http://identifiers.org/clinvar/2764 ^@ NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter) http://identifiers.org/clinvar/2809 ^@ NM_025074.6(FRAS1):c.8602C>T (p.Gln2868Ter) http://identifiers.org/clinvar/2854 ^@ NM_173076.2(ABCA12):c.4142G>A (p.Gly1381Glu) http://identifiers.org/clinvar/2945 ^@ NM_001077182.2(FSCN2):c.72delG (p.Thr25Glnfs) http://identifiers.org/clinvar/2991 ^@ NM_000543.4(SMPD1):c.1177T>G (p.Trp393Gly) http://identifiers.org/clinvar/3038 ^@ NM_000051.3(ATM):c.1066-6T>G http://identifiers.org/clinvar/3085 ^@ NM_000487.5(ARSA):c.1174C>T (p.Arg392Trp) http://identifiers.org/clinvar/3135 ^@ NM_000218.2(KCNQ1):c.1032G>A (p.Ala344=) http://identifiers.org/clinvar/10158 ^@ NM_000132.3(F8):c.199_200delAA (p.Lys67Aspfs) http://identifiers.org/clinvar/10202 ^@ NM_000132.3(F8):c.1043G>C (p.Cys348Ser) http://identifiers.org/clinvar/10248 ^@ NM_000132.3(F8):c.2383A>T (p.Arg795Ter) http://identifiers.org/clinvar/10293 ^@ NM_000132.3(F8):c.5719dupA (p.Ser1907Lysfs) http://identifiers.org/clinvar/10338 ^@ F8, EX4-10DEL http://identifiers.org/clinvar/10387 ^@ NM_000402.4(G6PD):c.770G>T (p.Arg257Leu) http://identifiers.org/clinvar/10435 ^@ NM_000166.5(GJB1):c.658C>T (p.Arg220Ter) http://identifiers.org/clinvar/10483 ^@ NM_000032.4(ALAS2):c.1699_1700delAT (p.Met567Glufs) http://identifiers.org/clinvar/10529 ^@ NM_000292.2(PHKA2):c.717+1G>T http://identifiers.org/clinvar/10574 ^@ NM_000133.3(F9):c.237A>C (p.Glu79Asp) http://identifiers.org/clinvar/10619 ^@ F9, GLY367ARG http://identifiers.org/clinvar/10664 ^@ NM_000133.3(F9):c.277+2T>C http://identifiers.org/clinvar/10755 ^@ GLA, 53-BP DEL, NT1123 http://identifiers.org/clinvar/11448 ^@ IKBKG, 1-BP INS, 1110C http://identifiers.org/clinvar/11499 ^@ CDKL5, 2-BP DEL, 2636CT http://identifiers.org/clinvar/11550 ^@ NM_001159702.2(FHL1):c.367C>T (p.His123Tyr) http://identifiers.org/clinvar/11600 ^@ DCX, IVS4, G-A, +1 http://identifiers.org/clinvar/11650 ^@ RPS6KA3, 187-BP DEL, NT406 http://identifiers.org/clinvar/11701 ^@ SLC6A8, IVS1AS, A-G, -2 http://identifiers.org/clinvar/11752 ^@ NM_001110556.1(FLNA):c.1966C>T (p.Leu656Phe) http://identifiers.org/clinvar/11803 ^@ NM_001127899.3(CLCN5):c.1238G>A (p.Trp413Ter) http://identifiers.org/clinvar/11853 ^@ NM_000260.3(MYO7A):c.731G>C (p.Arg244Pro) http://identifiers.org/clinvar/11903 ^@ NM_000128.3(F11):c.1253G>T (p.Gly418Val) http://identifiers.org/clinvar/11953 ^@ NM_001918.3(DBT):c.581C>G (p.Ser194Ter) http://identifiers.org/clinvar/12005 ^@ NM_000151.3(G6PC):c.328G>A (p.Glu110Lys) http://identifiers.org/clinvar/12055 ^@ F10, GLU14LYS http://identifiers.org/clinvar/12105 ^@ NM_000587.2(C7):c.1561C>A (p.Arg521Ser) http://identifiers.org/clinvar/12758 ^@ SURF1, IVS4, T-C, +2 http://identifiers.org/clinvar/12808 ^@ NM_004959.4(NR5A1):c.691_699delCTGCAGCTG (p.Leu231_Leu233del) http://identifiers.org/clinvar/12858 ^@ NM_003126.2(SPTA1):c.143A>G (p.Lys48Arg) http://identifiers.org/clinvar/12909 ^@ NM_152296.4(ATP1A3):c.1838C>T (p.Thr613Met) http://identifiers.org/clinvar/12959 ^@ NM_001035.2(RYR2):c.1298T>C (p.Leu433Pro) http://identifiers.org/clinvar/13010 ^@ NM_002929.2(GRK1):c.1139T>A (p.Val380Asp) http://identifiers.org/clinvar/13061 ^@ RHAG, IVS1, G-A, +1 http://identifiers.org/clinvar/13112 ^@ NM_000440.2(PDE6A):c.1683G>A (p.Trp561Ter) http://identifiers.org/clinvar/13162 ^@ NM_000322.4(PRPH2):c.356_358delGCT (p.Cys119del) http://identifiers.org/clinvar/13214 ^@ NM_003018.3(SFTPC):c.581T>C (p.Leu194Pro) http://identifiers.org/clinvar/13265 ^@ NM_000141.4(FGFR2):c.1061C>G (p.Ser354Cys) http://identifiers.org/clinvar/13316 ^@ NM_000313.3(PROS1):c.1501T>C (p.Ser501Pro) http://identifiers.org/clinvar/13366 ^@ PSAP, IVS5AS, G-T, -1 http://identifiers.org/clinvar/13420 ^@ NM_000371.3(TTR):c.233T>A (p.Leu78His) http://identifiers.org/clinvar/13472 ^@ NM_002234.3(KCNA5):c.1828G>A (p.Glu610Lys) http://identifiers.org/clinvar/13522 ^@ PKD2, 1-BP INS, 2160A http://identifiers.org/clinvar/36801 ^@ NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) http://identifiers.org/clinvar/37479 ^@ NM_007294.3(BRCA1):c.2669G>T (p.Gly890Val) http://identifiers.org/clinvar/37537 ^@ NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp) http://identifiers.org/clinvar/37590 ^@ NM_007294.3(BRCA1):c.4393delA (p.Ile1465Terfs) http://identifiers.org/clinvar/37642 ^@ NM_007294.3(BRCA1):c.5152+1G>C http://identifiers.org/clinvar/37699 ^@ NM_007294.3(BRCA1):c.81-11delT http://identifiers.org/clinvar/37750 ^@ NM_000059.3(BRCA2):c.1625T>C (p.Ile542Thr) http://identifiers.org/clinvar/37804 ^@ NM_000059.3(BRCA2):c.2818C>T (p.Gln940Ter) http://identifiers.org/clinvar/37855 ^@ NM_000059.3(BRCA2):c.3717delA (p.Lys1239Asnfs) http://identifiers.org/clinvar/37909 ^@ NM_000059.3(BRCA2):c.4574A>G (p.His1525Arg) http://identifiers.org/clinvar/37961 ^@ NM_000059.3(BRCA2):c.5351delA (p.Asn1784Thrfs) http://identifiers.org/clinvar/38013 ^@ NM_000059.3(BRCA2):c.6011_6017delAAGATAG (p.Glu2004Valfs) http://identifiers.org/clinvar/38068 ^@ NM_000059.3(BRCA2):c.682-13A>G http://identifiers.org/clinvar/38118 ^@ NM_000059.3(BRCA2):c.7768T>A (p.Ser2590Thr) http://identifiers.org/clinvar/38168 ^@ NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) http://identifiers.org/clinvar/38218 ^@ NM_000059.3(BRCA2):c.9177A>C (p.Lys3059Asn) http://identifiers.org/clinvar/38274 ^@ NM_000060.4(BTD):c.559C>T (p.Pro187Ser) http://identifiers.org/clinvar/38330 ^@ NM_001146040.1(GLRA1):c.801G>C (p.Trp267Cys) http://identifiers.org/clinvar/38387 ^@ NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) http://identifiers.org/clinvar/38445 ^@ NM_139241.3(FGD4):c.893T>G (p.Met298Arg) http://identifiers.org/clinvar/38611 ^@ NM_020630.4(RET):c.2304G>T (p.Glu768Asp) http://identifiers.org/clinvar/38770 ^@ NM_000495.4(COL4A5):c.2696G>T (p.Gly899Val) http://identifiers.org/clinvar/38883 ^@ NM_000532.4(PCCB):c.335G>A (p.Gly112Asp) http://identifiers.org/clinvar/38944 ^@ NM_001363.4(DKC1):c.-142C>G http://identifiers.org/clinvar/38995 ^@ NM_004614.4(TK2):c.604_606delAAG (p.Lys202del) http://identifiers.org/clinvar/39046 ^@ NM_024312.4(GNPTAB):c.2196G>T (p.Lys732Asn) http://identifiers.org/clinvar/39096 ^@ NM_172107.2:c.(1228_1230)del12 http://identifiers.org/clinvar/39153 ^@ NM_198578.3(LRRK2):c.2769G>C (p.Gln923His) http://identifiers.org/clinvar/39203 ^@ NM_198578.3(LRRK2):c.5163A>G (p.Ser1721=) http://identifiers.org/clinvar/39254 ^@ NM_207352.3(CYP4V2):c.1199G>A (p.Arg400His) http://identifiers.org/clinvar/40202 ^@ NG_008020.1:g.17867_122832dup104966 http://identifiers.org/clinvar/40338 ^@ NM_004333.4(BRAF):c.95_100delGCGCCG (p.Gly32_Ala33del) http://identifiers.org/clinvar/40413 ^@ NM_005188.3(CBL):c.1723A>G (p.Arg575Gly) http://identifiers.org/clinvar/40480 ^@ NM_002834.4(PTPN11):c.14+54C>A http://identifiers.org/clinvar/40538 ^@ NM_002834.4(PTPN11):c.990A>C (p.Thr330=) http://identifiers.org/clinvar/40600 ^@ NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) http://identifiers.org/clinvar/40669 ^@ NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) http://identifiers.org/clinvar/40755 ^@ NM_002755.3(MAP2K1):c.730T>G (p.Ser244Ala) http://identifiers.org/clinvar/40885 ^@ NC_012920.1:m.7505T>C http://identifiers.org/clinvar/41023 ^@ NM_000530.7(MPZ):c.588dupT (p.Met197Tyrfs) http://identifiers.org/clinvar/41079 ^@ NM_003611.2(OFD1):c.1409delA (p.Asn470Thrfs) http://identifiers.org/clinvar/41135 ^@ NM_003611.2(OFD1):c.654+29G>A http://identifiers.org/clinvar/41187 ^@ NM_003977.3(AIP):c.517_521delGAAGA (p.Glu174Glyfs) http://identifiers.org/clinvar/51198 ^@ NM_000059.3(BRCA2):c.17_18delAA (p.Lys6Argfs) http://identifiers.org/clinvar/51251 ^@ NM_000059.3(BRCA2):c.215A>G (p.Asn72Ser) http://identifiers.org/clinvar/51301 ^@ NM_000059.3(BRCA2):c.2537C>G (p.Ser846Ter) http://identifiers.org/clinvar/51352 ^@ NM_000059.3(BRCA2):c.2812_2815delGCAA (p.Ala938Profs) http://identifiers.org/clinvar/51402 ^@ NM_000059.3(BRCA2):c.3132T>G (p.Cys1044Trp) http://identifiers.org/clinvar/51454 ^@ NM_000059.3(BRCA2):c.3366_3367delAA (p.Gln1124Valfs) http://identifiers.org/clinvar/51505 ^@ NM_000059.3(BRCA2):c.3682_3685delAATG (p.Asn1228Phefs) http://identifiers.org/clinvar/51555 ^@ NM_000059.3(BRCA2):c.3900_3902delGAC (p.Met1300_Thr1301delinsIle) http://identifiers.org/clinvar/51607 ^@ NM_000059.3(BRCA2):c.4163C>A (p.Thr1388Asn) http://identifiers.org/clinvar/51659 ^@ NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter) http://identifiers.org/clinvar/51711 ^@ NM_000059.3(BRCA2):c.475G>A (p.Val159Met) http://identifiers.org/clinvar/51761 ^@ NM_000059.3(BRCA2):c.5065_5066delGCinsAAA (p.Ala1689Lysfs) http://identifiers.org/clinvar/51813 ^@ NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) http://identifiers.org/clinvar/51866 ^@ NM_000059.3(BRCA2):c.5466dupT (p.Lys1823Terfs) http://identifiers.org/clinvar/51919 ^@ NM_000059.3(BRCA2):c.5729A>G (p.Asn1910Ser) http://identifiers.org/clinvar/51970 ^@ NM_000059.3(BRCA2):c.5946_5950delTGGAA (p.Ser1982Argfs) http://identifiers.org/clinvar/52021 ^@ NM_000059.3(BRCA2):c.6160G>C (p.Ala2054Pro) http://identifiers.org/clinvar/52073 ^@ NM_000059.3(BRCA2):c.6359C>G (p.Ser2120Ter) http://identifiers.org/clinvar/52126 ^@ NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu) http://identifiers.org/clinvar/52177 ^@ NM_000059.3(BRCA2):c.6757_6758delCT (p.Leu2253Phefs) http://identifiers.org/clinvar/52227 ^@ NM_000059.3(BRCA2):c.6959T>C (p.Leu2320Ser) http://identifiers.org/clinvar/52279 ^@ NM_000059.3(BRCA2):c.7180A>T (p.Arg2394Ter) http://identifiers.org/clinvar/52329 ^@ NM_000059.3(BRCA2):c.7436-17T>G http://identifiers.org/clinvar/52379 ^@ NM_000059.3(BRCA2):c.7671delA (p.Glu2558Serfs) http://identifiers.org/clinvar/52430 ^@ NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) http://identifiers.org/clinvar/52480 ^@ NM_000059.3(BRCA2):c.8035G>T (p.Asp2679Tyr) http://identifiers.org/clinvar/52530 ^@ NM_000059.3(BRCA2):c.8228_8229insA (p.Arg2744Glnfs) http://identifiers.org/clinvar/52581 ^@ NM_000059.3(BRCA2):c.841G>A (p.Asp281Asn) http://identifiers.org/clinvar/55417 ^@ NM_007294.3(BRCA1):c.5145C>A (p.Ser1715Arg) http://identifiers.org/clinvar/55467 ^@ NM_007294.3(BRCA1):c.5217T>G (p.Asp1739Glu) http://identifiers.org/clinvar/55520 ^@ NM_007294.3(BRCA1):c.5315delT (p.Phe1772Serfs) http://identifiers.org/clinvar/55570 ^@ NM_007294.3(BRCA1):c.5416C>G (p.Pro1806Ala) http://identifiers.org/clinvar/55620 ^@ NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter) http://identifiers.org/clinvar/55672 ^@ NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn) http://identifiers.org/clinvar/55723 ^@ NM_007294.3(BRCA1):c.815_824dupAGCCATGTGG (p.Thr276Alafs) http://identifiers.org/clinvar/55774 ^@ NM_007294.3(BRCA1):c.993G>C (p.Arg331Ser) http://identifiers.org/clinvar/55852 ^@ NM_003383.4(VLDLR):c.1247_1253delGTTACAA (p.Tyr417Valfs) http://identifiers.org/clinvar/55925 ^@ NM_006494.3(ERF):c.256C>T (p.Arg86Cys) http://identifiers.org/clinvar/55982 ^@ NM_000111.2(SLC26A3):c.1579_1581delTAT (p.Tyr527del) http://identifiers.org/clinvar/56035 ^@ NM_000170.2(GLDC):c.1002dupT (p.Ala335Cysfs) http://identifiers.org/clinvar/56086 ^@ NM_000170.2(GLDC):c.2656C>T (p.Gln886Ter) http://identifiers.org/clinvar/56241 ^@ NM_000481.3(AMT):c.982_983delGCinsT (p.Ala328Serfs) http://identifiers.org/clinvar/56292 ^@ NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) http://identifiers.org/clinvar/56344 ^@ NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile) http://identifiers.org/clinvar/56395 ^@ NM_003332.3(TYROBP):c.141delG (p.Met48Trpfs) http://identifiers.org/clinvar/56446 ^@ NM_004646.3(NPHS1):c.1707C>G (p.Ser569Arg) http://identifiers.org/clinvar/101242 ^@ NM_000090.3(COL3A1):c.951+6T>A (p.Gly300_Ala317del) http://identifiers.org/clinvar/101292 ^@ NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp) http://identifiers.org/clinvar/101342 ^@ NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu) http://identifiers.org/clinvar/101392 ^@ NM_000090.3(COL3A1):c.583G>C (p.Gly195Arg) http://identifiers.org/clinvar/101442 ^@ NM_000090.3(COL3A1):c.1861G>C (p.Gly621Arg) http://identifiers.org/clinvar/101492 ^@ NM_000090.3(COL3A1):c.582+5G>T (p.Gly177_Pro194del) http://identifiers.org/clinvar/102449 ^@ NM_178862.2(STT3B):c.1539+20G>T http://identifiers.org/clinvar/102506 ^@ NM_000277.1(PAH):c.1065+7C>A http://identifiers.org/clinvar/102563 ^@ NM_000277.1(PAH):c.119C>T (p.Ser40Leu) http://identifiers.org/clinvar/102615 ^@ NM_000277.1(PAH):c.175G>T (p.Asp59Tyr) http://identifiers.org/clinvar/102669 ^@ NM_000277.1(PAH):c.439C>T (p.Pro147Ser) http://identifiers.org/clinvar/102720 ^@ NM_000277.1(PAH):c.520A>G (p.Ile174Val) http://identifiers.org/clinvar/102770 ^@ NM_000277.1(PAH):c.649T>C (p.Cys217Arg) http://identifiers.org/clinvar/102821 ^@ NM_000277.1(PAH):c.745C>T (p.Leu249Phe) http://identifiers.org/clinvar/102873 ^@ NM_000277.1(PAH):c.843-2A>T http://identifiers.org/clinvar/102923 ^@ NM_000277.1(PAH):c.982A>G (p.Thr328Ala) http://identifiers.org/clinvar/102981 ^@ NM_145007.3(NLRP11):c.-405G>A http://identifiers.org/clinvar/103031 ^@ NM_001033053.2(NLRP1):c.438C>A (p.Arg146=) http://identifiers.org/clinvar/103081 ^@ NM_001199138.1(NLRC4):c.2782+102T>C http://identifiers.org/clinvar/103131 ^@ NM_024618.3(NLRX1):c.141-216G>A http://identifiers.org/clinvar/103181 ^@ NM_032206.4(NLRC5):c.3507-51C>T http://identifiers.org/clinvar/103231 ^@ NM_138329.2(NLRP6):c.184G>A (p.Val62Met) http://identifiers.org/clinvar/103281 ^@ NM_153447.4(NLRP5):c.1417G>A (p.Val473Met) http://identifiers.org/clinvar/103331 ^@ NM_176811.2(NLRP8):c.368-197C>A http://identifiers.org/clinvar/111205 ^@ NM_000416.2(IFNGR1):c.*450C>T http://identifiers.org/clinvar/111255 ^@ NM_005534.3(IFNGR2):c.74-3673C>T http://identifiers.org/clinvar/120213 ^@ NM_001955.4(EDN1):c.230C>A (p.Pro77His) http://identifiers.org/clinvar/120267 ^@ NM_000277.1(PAH):c.169-42T>A http://identifiers.org/clinvar/120317 ^@ NM_004996.3(ABCC1):c.3391-99G>A http://identifiers.org/clinvar/125477 ^@ NM_007294.3(BRCA1):c.902_903insT (p.Lys301Asnfs) http://identifiers.org/clinvar/125554 ^@ NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) http://identifiers.org/clinvar/126030 ^@ NM_000059.3(BRCA2):c.3999C>G (p.Asn1333Lys) http://identifiers.org/clinvar/126105 ^@ NM_000059.3(BRCA2):c.441A>T (p.Gln147His) http://identifiers.org/clinvar/127168 ^@ NM_001101.3(ACTB):c.359C>T (p.Thr120Ile) http://identifiers.org/clinvar/127267 ^@ NM_001195226.1(PRODH):c.1417C>T (p.Leu473=) http://identifiers.org/clinvar/127318 ^@ NM_000038.5(APC):c.7399C>A (p.Pro2467Thr) http://identifiers.org/clinvar/127368 ^@ NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) http://identifiers.org/clinvar/127418 ^@ NM_000051.3(ATM):c.6101G>A (p.Arg2034Gln) http://identifiers.org/clinvar/127469 ^@ NM_000051.3(ATM):c.9094G>C (p.Val3032Leu) http://identifiers.org/clinvar/127519 ^@ NM_000075.3(CDK4):c.760C>T (p.Pro254Ser) http://identifiers.org/clinvar/127569 ^@ NM_000179.2(MSH6):c.2173A>G (p.Ile725Val) http://identifiers.org/clinvar/127620 ^@ NM_000249.3(MLH1):c.1834G>A (p.Val612Ile) http://identifiers.org/clinvar/127676 ^@ NM_000314.6(PTEN):c.-834C>T http://identifiers.org/clinvar/127729 ^@ NM_000465.3(BARD1):c.2002-12T>G http://identifiers.org/clinvar/127779 ^@ NM_000535.6(PMS2):c.2341C>A (p.Gln781Lys) http://identifiers.org/clinvar/179214 ^@ NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?)) http://identifiers.org/clinvar/179814 ^@ NM_001035.2(RYR2):c.1612+13A>G http://identifiers.org/clinvar/163864 ^@ NM_005572.3(LMNA):c.343_344delGAinsTT (p.Glu115Leu) http://identifiers.org/clinvar/180014 ^@ NM_133378.4(TTN):c.75069G>A (p.Trp25023Ter) http://identifiers.org/clinvar/178206 ^@ NM_133378.4(TTN):c.39492G>C (p.Val13164=) http://identifiers.org/clinvar/180064 ^@ NM_206933.2(USH2A):c.11956A>G (p.Thr3986Ala) http://identifiers.org/clinvar/179114 ^@ NM_206933.2(USH2A):c.2228G>T (p.Gly743Val) http://identifiers.org/clinvar/179464 ^@ NM_133378.4(TTN):c.64248T>C (p.Phe21416=) http://identifiers.org/clinvar/178914 ^@ NM_133378.4(TTN):c.94479C>T (p.Arg31493=) http://identifiers.org/clinvar/178964 ^@ NM_133378.4(TTN):c.39262G>A (p.Asp13088Asn) http://identifiers.org/clinvar/179614 ^@ NM_133378.4(TTN):c.24978T>C (p.Asn8326=) http://identifiers.org/clinvar/178256 ^@ NM_133378.4(TTN):c.12359G>A (p.Arg4120His) http://identifiers.org/clinvar/179414 ^@ NM_133378.4(TTN):c.2376G>A (p.Lys792=) http://identifiers.org/clinvar/178506 ^@ NM_194248.2(OTOF):c.4483C>A (p.Arg1495=) http://identifiers.org/clinvar/165458 ^@ NM_024334.2(TMEM43):c.1095G>A (p.Ala365=) http://identifiers.org/clinvar/165157 ^@ NM_198056.2(SCN5A):c.1020G>T (p.Arg340=) http://identifiers.org/clinvar/163276 ^@ NM_004415.3(DSP):c.4824dupA (p.Ala1609Serfs) http://identifiers.org/clinvar/177804 ^@ NM_001927.3(DES):c.93T= (p.Ser31=) http://identifiers.org/clinvar/163125 ^@ NM_001277115.1(DNAH11):c.11272T>C (p.Ser3758Pro) http://identifiers.org/clinvar/177652 ^@ NM_005228.4(EGFR):c.2237_2255del19insT (p.Glu746_Ser752delinsVal) http://identifiers.org/clinvar/178406 ^@ NM_001038603.2(MARVELD2):c.364G>A (p.Ala122Thr) http://identifiers.org/clinvar/163578 ^@ NM_032119.3(ADGRV1):c.5643delG (p.Tyr1882Ilefs) http://identifiers.org/clinvar/198451 ^@ NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) http://identifiers.org/clinvar/198504 ^@ NM_004006.2(DMD):c.572C>G (p.Ser191Ter) http://identifiers.org/clinvar/198556 ^@ NM_014008.4(CCDC22):c.715G>A (p.Glu239Lys) http://identifiers.org/clinvar/198608 ^@ NM_080632.2(UPF3B):c.674_677delGAAA (p.Arg225Lysfs) http://identifiers.org/clinvar/198659 ^@ NM_032119.3(ADGRV1):c.15837C>A (p.Ile5279=) http://identifiers.org/clinvar/198710 ^@ NM_000288.3(PEX7):c.748-5dupT http://identifiers.org/clinvar/198765 ^@ NM_001101426.3(ISPD):c.1059G>A (p.Lys353=) http://identifiers.org/clinvar/198817 ^@ NM_005270.4(GLI2):c.1294G>A (p.Val432Met) http://identifiers.org/clinvar/198872 ^@ NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) http://identifiers.org/clinvar/198926 ^@ NM_198270.3(NHS):c.4720A>C (p.Thr1574Pro) http://identifiers.org/clinvar/198977 ^@ NM_033071.3(SYNE1):c.16993+7G>A http://identifiers.org/clinvar/199028 ^@ NM_000489.4(ATRX):c.1273A>C (p.Lys425Gln) http://identifiers.org/clinvar/199079 ^@ NM_002474.2(MYH11):c.1017C>T (p.Ser339=) http://identifiers.org/clinvar/199133 ^@ NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) http://identifiers.org/clinvar/199183 ^@ NM_133499.2(SYN1):c.1056-14_1056-8delCTTTGTC http://identifiers.org/clinvar/199239 ^@ NM_031935.2(HMCN1):c.15011C>T (p.Thr5004Ile) http://identifiers.org/clinvar/199686 ^@ NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) http://identifiers.org/clinvar/201223 ^@ NM_001035.2(RYR2):c.1791T>G (p.Ile597Met) http://identifiers.org/clinvar/201169 ^@ NM_001035.2(RYR2):c.3964C>A (p.Leu1322Ile) http://identifiers.org/clinvar/201279 ^@ NM_001035.2(RYR2):c.7202G>A (p.Arg2401His) http://identifiers.org/clinvar/201393 ^@ NM_001035.2(RYR2):c.9569G>A (p.Arg3190Gln) http://identifiers.org/clinvar/201333 ^@ NM_001035.2(RYR2):c.12470G>A (p.Arg4157Gln) http://identifiers.org/clinvar/199742 ^@ NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) http://identifiers.org/clinvar/201502 ^@ NM_198056.2(SCN5A):c.3994C>T (p.Pro1332Ser) http://identifiers.org/clinvar/201560 ^@ NM_198056.2(SCN5A):c.2550_2551dupGT (p.Phe851Cysfs) http://identifiers.org/clinvar/201446 ^@ NM_198056.2(SCN5A):c.889G>A (p.Asp297Asn) http://identifiers.org/clinvar/199849 ^@ NM_004415.3(DSP):c.424C>T (p.Leu142Phe) http://identifiers.org/clinvar/199907 ^@ NM_004415.3(DSP):c.7310A>G (p.Glu2437Gly) http://identifiers.org/clinvar/200987 ^@ NM_130799.2(MEN1):c.1618C>T (p.Pro540Ser) http://identifiers.org/clinvar/199966 ^@ NM_000138.4(FBN1):c.1286G>A (p.Arg429Gln) http://identifiers.org/clinvar/201049 ^@ NM_002474.2(MYH11):c.1034-12T>G http://identifiers.org/clinvar/201102 ^@ NM_002474.2(MYH11):c.868G>C (p.Gly290Arg) http://identifiers.org/clinvar/199796 ^@ NM_001943.4(DSG2):c.152G>C (p.Trp51Ser) http://identifiers.org/clinvar/200919 ^@ NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) http://identifiers.org/clinvar/202121 ^@ NM_024334.2(TMEM43):c.859C>T (p.His287Tyr) http://identifiers.org/clinvar/201948 ^@ NM_014476.5(PDLIM3):c.896G>A (p.Ser299Asn) http://identifiers.org/clinvar/202062 ^@ NM_001134363.2(RBM20):c.1910G>A (p.Ser637Asn) http://identifiers.org/clinvar/201893 ^@ NM_032578.3(MYPN):c.3793G>A (p.Ala1265Thr) http://identifiers.org/clinvar/201840 ^@ NM_007078.2(LDB3):c.859+14C>G http://identifiers.org/clinvar/201674 ^@ NM_014391.2(ANKRD1):c.625G>C (p.Gly209Arg) http://identifiers.org/clinvar/201785 ^@ NM_004517.3(ILK):c.435A>C (p.Arg145Ser) http://identifiers.org/clinvar/201620 ^@ NM_020297.3(ABCC9):c.3557G>A (p.Arg1186Gln) http://identifiers.org/clinvar/202004 ^@ NM_004572.3(PKP2):c.2213T>G (p.Leu738Arg) http://identifiers.org/clinvar/201730 ^@ NM_004006.2(DMD):c.1888A>G (p.Thr630Ala) http://identifiers.org/clinvar/202178 ^@ NM_001848.2(COL6A1):c.821C>T (p.Pro274Leu) http://identifiers.org/clinvar/202228 ^@ NC_000005.9:g.(?_92919336)_(92925582_?)dup http://identifiers.org/clinvar/202406 ^@ NM_001256850.1(TTN):c.70327C>T (p.Arg23443Ter) http://identifiers.org/clinvar/202461 ^@ NM_001256850.1(TTN):c.64732dupA (p.Arg21578Lysfs) http://identifiers.org/clinvar/233742 ^@ NM_000038.5(APC):c.4876C>T (p.Pro1626Ser) http://identifiers.org/clinvar/233340 ^@ NM_000038.5(APC):c.6709C>A (p.Arg2237=) http://identifiers.org/clinvar/232940 ^@ NM_000038.5(APC):c.7105C>T (p.Pro2369Ser) http://identifiers.org/clinvar/232489 ^@ NM_000038.5(APC):c.7518A>G (p.Lys2506=) http://identifiers.org/clinvar/232740 ^@ NM_005732.3(RAD50):c.55G>T (p.Asp19Tyr) http://identifiers.org/clinvar/233240 ^@ NM_005732.3(RAD50):c.477A>T (p.Gln159His) http://identifiers.org/clinvar/230850 ^@ NM_005732.3(RAD50):c.1300_1306delGATAAGA (p.Asp434Lysfs) http://identifiers.org/clinvar/231200 ^@ NM_005732.3(RAD50):c.3229C>T (p.Arg1077Ter) http://identifiers.org/clinvar/233390 ^@ NM_000535.6(PMS2):c.2404C>A (p.Arg802=) http://identifiers.org/clinvar/230950 ^@ NM_000535.6(PMS2):c.1198C>T (p.Gln400Ter) http://identifiers.org/clinvar/230650 ^@ NM_000535.6(PMS2):c.828C>T (p.Cys276=) http://identifiers.org/clinvar/230100 ^@ NM_000535.6(PMS2):c.596G>A (p.Arg199His) http://identifiers.org/clinvar/233590 ^@ NM_000314.6(PTEN):c.509G>T (p.Ser170Ile) http://identifiers.org/clinvar/231500 ^@ NM_000051.3(ATM):c.2428A>G (p.Lys810Glu) http://identifiers.org/clinvar/233190 ^@ NM_000051.3(ATM):c.5529A>G (p.Pro1843=) http://identifiers.org/clinvar/230900 ^@ NM_000051.3(ATM):c.5771C>T (p.Ser1924Leu) http://identifiers.org/clinvar/233040 ^@ NM_000051.3(ATM):c.5774G>A (p.Gly1925Glu) http://identifiers.org/clinvar/230200 ^@ NM_000051.3(ATM):c.7886_7890delTATTA (p.Ile2629Serfs) http://identifiers.org/clinvar/230350 ^@ NM_000051.3(ATM):c.8773G>A (p.Gly2925Ser) http://identifiers.org/clinvar/233090 ^@ NM_005591.3(MRE11):c.1633_1640delCTTATGAG (p.Leu545Tyrfs) http://identifiers.org/clinvar/232690 ^@ NM_005591.3(MRE11):c.1628A>G (p.Asp543Gly) http://identifiers.org/clinvar/232890 ^@ NM_005591.3(MRE11):c.891T>G (p.His297Gln) http://identifiers.org/clinvar/231050 ^@ NM_005591.3(MRE11):c.7A>G (p.Thr3Ala) http://identifiers.org/clinvar/233290 ^@ NM_000059.3(BRCA2):c.399A>G (p.Pro133=) http://identifiers.org/clinvar/230600 ^@ NM_000059.3(BRCA2):c.1943delC (p.Ser648Tyrfs) http://identifiers.org/clinvar/233440 ^@ NM_000059.3(BRCA2):c.2598A>G (p.Glu866=) http://identifiers.org/clinvar/229950 ^@ NM_000059.3(BRCA2):c.6596delC (p.Thr2199Ilefs) http://identifiers.org/clinvar/233640 ^@ NM_000059.3(BRCA2):c.6699_6702dupTTTT (p.Met2235Phefs) http://identifiers.org/clinvar/231550 ^@ NM_000059.3(BRCA2):c.10041A>G (p.Ile3347Met) http://identifiers.org/clinvar/233540 ^@ NM_024675.3(PALB2):c.3544G>C (p.Val1182Leu) http://identifiers.org/clinvar/229800 ^@ NM_001042492.2(NF1):c.1545G>A (p.Gly515=) http://identifiers.org/clinvar/230800 ^@ NM_001042492.2(NF1):c.3237T>A (p.Leu1079=) http://identifiers.org/clinvar/232640 ^@ NM_001042492.2(NF1):c.7005C>T (p.Thr2335=) http://identifiers.org/clinvar/232590 ^@ NM_001042492.2(NF1):c.7306G>A (p.Val2436Met) http://identifiers.org/clinvar/231000 ^@ NM_001042492.2(NF1):c.7728T>C (p.Asp2576=) http://identifiers.org/clinvar/230400 ^@ NM_001042492.2(NF1):c.8183C>T (p.Ala2728Val) http://identifiers.org/clinvar/232539 ^@ NM_002878.3(RAD51D):c.186G>A (p.Ser62=) http://identifiers.org/clinvar/229750 ^@ NM_002878.3(RAD51D):c.161G>T (p.Arg54Met) http://identifiers.org/clinvar/232790 ^@ NM_007294.3(BRCA1):c.5237A>C (p.His1746Pro) http://identifiers.org/clinvar/229900 ^@ NM_007294.3(BRCA1):c.4923T>G (p.Ala1641=) http://identifiers.org/clinvar/230250 ^@ NM_007294.3(BRCA1):c.4196C>G (p.Thr1399Ser) http://identifiers.org/clinvar/232990 ^@ NM_007294.3(BRCA1):c.3171T>C (p.Ser1057=) http://identifiers.org/clinvar/230150 ^@ NM_007294.3(BRCA1):c.982T>C (p.Cys328Arg) http://identifiers.org/clinvar/230500 ^@ NM_007294.3(BRCA1):c.255G>T (p.Glu85Asp) http://identifiers.org/clinvar/233690 ^@ NM_058216.2(RAD51C):c.145+5C>T http://identifiers.org/clinvar/230750 ^@ NM_032043.2(BRIP1):c.618G>T (p.Ser206=) http://identifiers.org/clinvar/230550 ^@ NM_000546.5(TP53):c.52delA (p.Thr18Hisfs) http://identifiers.org/clinvar/229700 ^@ NM_007194.3(CHEK2):c.851G>A (p.Cys284Tyr) http://identifiers.org/clinvar/232840 ^@ NM_007194.3(CHEK2):c.108G>A (p.Gln36=) http://identifiers.org/clinvar/230700 ^@ NM_007194.3(CHEK2):c.78C>T (p.Thr26=) http://identifiers.org/clinvar/242403 ^@ NM_004826.3(ECEL1):c.869A>G (p.Tyr290Cys) http://identifiers.org/clinvar/239439 ^@ NM_003000.2(SDHB):c.71A>C (p.Gln24Pro) http://identifiers.org/clinvar/241429 ^@ NM_022114.3(PRDM16):c.3129C>T (p.Val1043=) http://identifiers.org/clinvar/241029 ^@ NM_015284.3(SZT2):c.2356C>T (p.Leu786=) http://identifiers.org/clinvar/238835 ^@ NM_001267550.2(TTN):c.71388G>T (p.Glu23796Asp) http://identifiers.org/clinvar/238785 ^@ NM_001267550.2(TTN):c.46211A>G (p.Glu15404Gly) http://identifiers.org/clinvar/238735 ^@ NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) http://identifiers.org/clinvar/236993 ^@ NM_000090.3(COL3A1):c.2220G>A (p.Lys740=) http://identifiers.org/clinvar/241979 ^@ NM_152383.4(DIS3L2):c.366+9A>T http://identifiers.org/clinvar/239839 ^@ NM_004304.4(ALK):c.4573_4575delAAG (p.Lys1525del) http://identifiers.org/clinvar/239136 ^@ NM_002354.2(EPCAM):c.616G>A (p.Asp206Asn) http://identifiers.org/clinvar/237144 ^@ NM_000179.2(MSH6):c.1795G>C (p.Gly599Arg) http://identifiers.org/clinvar/237195 ^@ NM_000179.2(MSH6):c.3717_3721dupAAAAT (p.Cys1241Terfs) http://identifiers.org/clinvar/240979 ^@ NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) http://identifiers.org/clinvar/241729 ^@ NM_033084.4(FANCD2):c.1156T>G (p.Phe386Val) http://identifiers.org/clinvar/237345 ^@ NM_000249.3(MLH1):c.780C>T (p.Leu260=) http://identifiers.org/clinvar/239589 ^@ NM_003924.3(PHOX2B):c.681G>A (p.Ala227=) http://identifiers.org/clinvar/237245 ^@ NM_000222.2(KIT):c.1553C>T (p.Pro518Leu) http://identifiers.org/clinvar/236639 ^@ NM_000038.5(APC):c.6932G>A (p.Arg2311Lys) http://identifiers.org/clinvar/239086 ^@ NM_001999.3(FBN2):c.5353+10C>A http://identifiers.org/clinvar/238985 ^@ NM_001369.2(DNAH5):c.7034G>A (p.Trp2345Ter) http://identifiers.org/clinvar/239639 ^@ NM_004168.3(SDHA):c.1215C>T (p.Thr405=) http://identifiers.org/clinvar/237295 ^@ NM_000238.3(KCNH2):c.194C>G (p.Thr65Ser) http://identifiers.org/clinvar/238935 ^@ NM_001277115.1(DNAH11):c.8610C>G (p.Tyr2870Ter) http://identifiers.org/clinvar/262078 ^@ NM_032446.2(MEGF10):c.609C>T (p.Cys203=) http://identifiers.org/clinvar/260039 ^@ NM_006790.2(MYOT):c.816+30A>G http://identifiers.org/clinvar/259188 ^@ NM_003900.4(SQSTM1):c.822G>C (p.Glu274Asp) http://identifiers.org/clinvar/261678 ^@ NM_023073.3(C5orf42):c.8577C>T (p.Asp2859=) http://identifiers.org/clinvar/257049 ^@ NM_001010892.2(RSPH4A):c.1662+50T>C http://identifiers.org/clinvar/262178 ^@ NM_033071.3(SYNE1):c.20317-14G>A http://identifiers.org/clinvar/256299 ^@ NM_000500.7(CYP21A2):c.738+13C>T http://identifiers.org/clinvar/261178 ^@ NM_019105.6(TNXB):c.9556G>A (p.Val3186Ile) http://identifiers.org/clinvar/261128 ^@ NM_019105.6(TNXB):c.2242+18C>G http://identifiers.org/clinvar/259989 ^@ NM_006502.2(POLH):c.1939A>T (p.Met647Leu) http://identifiers.org/clinvar/260189 ^@ NM_012120.2(CD2AP):c.219A>G (p.Glu73=) http://identifiers.org/clinvar/258338 ^@ NM_001851.4(COL9A1):c.1071T>C (p.Arg357=) http://identifiers.org/clinvar/259338 ^@ NM_004370.5(COL12A1):c.5508G>A (p.Thr1836=) http://identifiers.org/clinvar/256249 ^@ NM_000492.3(CFTR):c.1545T>C (p.Tyr515=) http://identifiers.org/clinvar/259288 ^@ NM_004333.4(BRAF):c.193T>C (p.Leu65=) http://identifiers.org/clinvar/260928 ^@ NM_017802.3(DNAAF5):c.1471-13C>T http://identifiers.org/clinvar/258988 ^@ NM_003235.4(TG):c.1543C>G (p.Gln515Glu) http://identifiers.org/clinvar/256849 ^@ NM_001001557.3(GDF6):c.407-39C>T http://identifiers.org/clinvar/260139 ^@ NM_007171.3(POMT1):c.1052+49G>A http://identifiers.org/clinvar/259038 ^@ NM_003289.3(TPM2):c.375-37G>A http://identifiers.org/clinvar/261328 ^@ NM_020549.4(CHAT):c.1281+16G>A http://identifiers.org/clinvar/260239 ^@ NM_012330.3(KAT6B):c.3649G>T (p.Ala1217Ser) http://identifiers.org/clinvar/259739 ^@ NM_005271.4(GLUD1):c.1403-5dupT http://identifiers.org/clinvar/259939 ^@ NM_006204.3(PDE6C):c.1119+21A>G http://identifiers.org/clinvar/261028 ^@ NM_018400.3(SCN3B):c.438C>T (p.Thr146=) http://identifiers.org/clinvar/259839 ^@ NM_005609.3(PYGM):c.612C>T (p.Tyr204=) http://identifiers.org/clinvar/259138 ^@ NM_003737.3(DCHS1):c.3696G>A (p.Pro1232=) http://identifiers.org/clinvar/259689 ^@ NM_005247.2(FGF3):c.420G>A (p.Thr140=) http://identifiers.org/clinvar/257399 ^@ NM_001082538.2(TCTN1):c.285C>T (p.Pro95=) http://identifiers.org/clinvar/256599 ^@ NM_000545.6(HNF1A):c.326+6_326+10dupGAGCC http://identifiers.org/clinvar/262628 ^@ NM_152269.4(C12orf65):c.273C>T (p.Ile91=) http://identifiers.org/clinvar/262578 ^@ NM_145064.2(STAC3):c.996+17A>T http://identifiers.org/clinvar/256699 ^@ NM_000552.4(VWF):c.7771-13C>T http://identifiers.org/clinvar/261828 ^@ NM_025114.3(CEP290):c.1669C>T (p.Arg557Cys) http://identifiers.org/clinvar/261628 ^@ NM_022489.3(INF2):c.843+16C>T http://identifiers.org/clinvar/261228 ^@ NM_020366.3(RPGRIP1):c.3097G>C (p.Glu1033Gln) http://identifiers.org/clinvar/258838 ^@ NM_002863.4(PYGL):c.2178-27dupT http://identifiers.org/clinvar/257099 ^@ NM_001024858.2(SPTB):c.177C>T (p.Thr59=) http://identifiers.org/clinvar/256099 ^@ NM_000428.2(LTBP2):c.4782G>A (p.Val1594=) http://identifiers.org/clinvar/334975 ^@ NM_000751.2(CHRND):c.*52A>G http://identifiers.org/clinvar/335675 ^@ NM_001029883.2(C2orf71):c.37A>T (p.Ser13Cys) http://identifiers.org/clinvar/335025 ^@ NM_005199.4(CHRNG):c.*591_*592insTT http://identifiers.org/clinvar/332584 ^@ NM_003659.3(AGPS):c.*3606A>G http://identifiers.org/clinvar/332984 ^@ NM_201548.4(CERKL):c.*1044C>T http://identifiers.org/clinvar/335825 ^@ NM_014946.3(SPAST):c.-104_-102delACG http://identifiers.org/clinvar/335225 ^@ NM_004321.7(KIF1A):c.*2499G>A http://identifiers.org/clinvar/332884 ^@ NM_133378.4(TTN):c.30330A>G (p.Glu10110=) http://identifiers.org/clinvar/335425 ^@ NM_194248.2(OTOF):c.*440T>C http://identifiers.org/clinvar/335475 ^@ NM_000221.2(KHK):c.-444C>A http://identifiers.org/clinvar/333973 ^@ NM_015040.3(PIKFYVE):c.*2548C>T http://identifiers.org/clinvar/333923 ^@ NM_015040.3(PIKFYVE):c.4731A>G (p.Gln1577=) http://identifiers.org/clinvar/334325 ^@ NM_015488.4(PNKD):c.781+12C>G http://identifiers.org/clinvar/334024 ^@ NM_001875.4(CPS1):c.1982-8A>T http://identifiers.org/clinvar/336871 ^@ NM_002056.3(GFPT1):c.*52C>A http://identifiers.org/clinvar/334675 ^@ NM_000092.4(COL4A4):c.*1802T>A http://identifiers.org/clinvar/334725 ^@ NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) http://identifiers.org/clinvar/334775 ^@ NM_000091.4(COL4A3):c.3566-9T>C http://identifiers.org/clinvar/334525 ^@ NM_015311.2(OBSL1):c.1151G>A (p.Arg384His) http://identifiers.org/clinvar/335325 ^@ NM_152783.4(D2HGDH):c.1547C>T (p.Thr516Met) http://identifiers.org/clinvar/334925 ^@ NM_152383.4(DIS3L2):c.-67G>A http://identifiers.org/clinvar/343211 ^@ NM_014049.4(ACAD9):c.*92A>C http://identifiers.org/clinvar/343261 ^@ NM_052985.3(IFT122):c.3284C>T (p.Ala1095Val) http://identifiers.org/clinvar/343311 ^@ NM_000539.3(RHO):c.*1599G>A http://identifiers.org/clinvar/343361 ^@ NM_153240.4(NPHP3):c.*759G>A http://identifiers.org/clinvar/335525 ^@ NM_002437.4(MPV17):c.*34G>A http://identifiers.org/clinvar/343411 ^@ NM_003571.3(BFSP2):c.722A>G (p.Tyr241Cys) http://identifiers.org/clinvar/335575 ^@ NM_001029883.2(C2orf71):c.*2754A>G http://identifiers.org/clinvar/335175 ^@ NM_004544.3(NDUFA10):c.*1923_*1924insA http://identifiers.org/clinvar/335625 ^@ NM_001029883.2(C2orf71):c.*543C>T http://identifiers.org/clinvar/343511 ^@ NM_024334.2(TMEM43):c.*115T>C http://identifiers.org/clinvar/335275 ^@ NM_004321.7(KIF1A):c.1742-8T>C http://identifiers.org/clinvar/335725 ^@ NM_004304.4(ALK):c.-312G>T http://identifiers.org/clinvar/335775 ^@ NM_000379.3(XDH):c.2176G>C (p.Glu726Gln) http://identifiers.org/clinvar/343761 ^@ NM_000096.3(CP):c.2266C>A (p.His756Asn) http://identifiers.org/clinvar/343861 ^@ NM_004733.3(SLC33A1):c.*893delT http://identifiers.org/clinvar/344011 ^@ NM_001041.3(SI):c.4458G>A (p.Thr1486=) http://identifiers.org/clinvar/343161 ^@ NM_004637.5(RAB7A):c.*85A>G http://identifiers.org/clinvar/344061 ^@ NM_001041.3(SI):c.1043C>T (p.Pro348Leu) http://identifiers.org/clinvar/354927 ^@ NM_014028.3(OSTM1):c.*3319T>G http://identifiers.org/clinvar/355617 ^@ NM_003764.3(STX11):c.*1253dupT http://identifiers.org/clinvar/358756 ^@ NM_012338.3(TSPAN12):c.*553C>G http://identifiers.org/clinvar/355867 ^@ NM_033071.3(SYNE1):c.15100G>A (p.Asp5034Asn) http://identifiers.org/clinvar/359006 ^@ NM_020632.2(ATP6V0A4):c.2307G>A (p.Thr769=) http://identifiers.org/clinvar/359056 ^@ NM_018238.3(AGK):c.424-11T>C http://identifiers.org/clinvar/359106 ^@ NM_000083.2(CLCN1):c.804G>A (p.Thr268=) http://identifiers.org/clinvar/359156 ^@ NM_001080413.3(NOBOX):c.130C>T (p.Arg44Trp) http://identifiers.org/clinvar/359206 ^@ NM_014141.5(CNTNAP2):c.*818dupT http://identifiers.org/clinvar/359306 ^@ NM_000238.3(KCNH2):c.3058C>T (p.Pro1020Ser) http://identifiers.org/clinvar/359356 ^@ NM_016203.3(PRKAG2):c.-252C>T http://identifiers.org/clinvar/356117 ^@ NM_000367.4(TPMT):c.335T>A (p.Ile112Asn) http://identifiers.org/clinvar/356167 ^@ NM_001080.3(ALDH5A1):c.*1349A>G http://identifiers.org/clinvar/359456 ^@ NM_058246.3(DNAJB6):c.723G>A (p.Glu241=) http://identifiers.org/clinvar/356217 ^@ NM_001109809.2(ZFP57):c.495G>A (p.Val165=) http://identifiers.org/clinvar/352088 ^@ NM_000112.3(SLC26A2):c.*4469delT http://identifiers.org/clinvar/356417 ^@ NM_001014.4(RPS10):c.*43A>G http://identifiers.org/clinvar/356467 ^@ NM_003322.5(TULP1):c.875G>A (p.Arg292Gln) http://identifiers.org/clinvar/356567 ^@ NM_001145717.1(PNPLA1):c.889C>T (p.Leu297Phe) http://identifiers.org/clinvar/356617 ^@ NM_005943.5(MOCS1):c.*1758T>C http://identifiers.org/clinvar/356867 ^@ NM_203290.3(POLR1C):c.-21A>G http://identifiers.org/clinvar/360295 ^@ NM_000162.3(GCK):c.*332G>A http://identifiers.org/clinvar/360395 ^@ NM_014855.2(AP5Z1):c.*1866C>A http://identifiers.org/clinvar/360745 ^@ NM_001001547.2(CD36):c.-209C>T http://identifiers.org/clinvar/360945 ^@ NM_000089.3(COL1A2):c.279+12T>C http://identifiers.org/clinvar/361245 ^@ NM_178857.5(RP1L1):c.5618A>T (p.Asp1873Val) http://identifiers.org/clinvar/361555 ^@ NM_014112.4(TRPS1):c.*2951T>C http://identifiers.org/clinvar/353677 ^@ NM_000163.4(GHR):c.-10T>C http://identifiers.org/clinvar/353727 ^@ NM_004465.1(FGF10):c.144G>A (p.Glu48=) http://identifiers.org/clinvar/361705 ^@ NM_002546.3(TNFRSF11B):c.-311G>T http://identifiers.org/clinvar/353477 ^@ NM_000514.3(GDNF):c.*2556T>A http://identifiers.org/clinvar/300197 ^@ NM_033056.3(PCDH15):c.1172A>G (p.Gln391Arg) http://identifiers.org/clinvar/306801 ^@ NM_024312.4(GNPTAB):c.3194T>C (p.Ile1065Thr) http://identifiers.org/clinvar/364354 ^@ NM_005502.3(ABCA1):c.*1326C>T http://identifiers.org/clinvar/364304 ^@ NM_000035.3(ALDOB):c.*150delA http://identifiers.org/clinvar/306901 ^@ NM_000618.4(IGF1):c.*447G>C http://identifiers.org/clinvar/364654 ^@ NM_000031.5(ALAD):c.72C>T (p.Thr24=) http://identifiers.org/clinvar/364704 ^@ NM_015404.3(WHRN):c.-391C>A http://identifiers.org/clinvar/300597 ^@ NM_004273.4(CHST3):c.*1091G>T http://identifiers.org/clinvar/364754 ^@ NM_018249.5(CDK5RAP2):c.4497C>A (p.Ala1499=) http://identifiers.org/clinvar/364804 ^@ NM_000177.4(GSN):c.699T>G (p.Asn233Lys) http://identifiers.org/clinvar/364604 ^@ NM_005592.3(MUSK):c.857A>G (p.Asn286Ser) http://identifiers.org/clinvar/364954 ^@ NM_002316.3(LMX1B):c.*2393T>C http://identifiers.org/clinvar/365204 ^@ NM_014908.3(DOLK):c.-269G>T http://identifiers.org/clinvar/308290 ^@ NM_139241.3(FGD4):c.852A>G (p.Arg284=) http://identifiers.org/clinvar/308390 ^@ NM_012062.4(DNM1L):c.1597-3_1597-2dupTA http://identifiers.org/clinvar/308440 ^@ NM_001040436.2(YARS2):c.*627A>T http://identifiers.org/clinvar/365404 ^@ NM_000368.4(TSC1):c.*4057G>A http://identifiers.org/clinvar/308540 ^@ NM_017641.3(KIF21A):c.*418A>G http://identifiers.org/clinvar/365104 ^@ NM_000118.3(ENG):c.-289A>T http://identifiers.org/clinvar/365504 ^@ NM_000368.4(TSC1):c.*289delT http://identifiers.org/clinvar/365454 ^@ NM_000368.4(TSC1):c.*2439C>A http://identifiers.org/clinvar/309240 ^@ NM_000486.5(AQP2):c.*252G>A http://identifiers.org/clinvar/309290 ^@ NM_000617.2(SLC11A2):c.*1031G>A http://identifiers.org/clinvar/309390 ^@ NM_014191.3(SCN8A):c.*1559G>A http://identifiers.org/clinvar/366094 ^@ NM_144966.5(FREM1):c.*229C>T http://identifiers.org/clinvar/366194 ^@ NM_003070.4(SMARCA2):c.175A>T (p.Thr59Ser) http://identifiers.org/clinvar/366244 ^@ NM_002451.3(MTAP):c.561C>T (p.Arg187=) http://identifiers.org/clinvar/366394 ^@ NM_203447.3(DOCK8):c.72A>G (p.Ile24Met) http://identifiers.org/clinvar/366044 ^@ NM_024757.4(EHMT1):c.*971dupT http://identifiers.org/clinvar/310379 ^@ NM_173353.3(TPH2):c.256-12G>A http://identifiers.org/clinvar/366294 ^@ NM_002451.3(MTAP):c.*2365C>T http://identifiers.org/clinvar/366694 ^@ NM_012144.3(DNAI1):c.1913A>G (p.Asn638Ser) http://identifiers.org/clinvar/366444 ^@ NM_000459.4(TEK):c.2814C>G (p.Ser938=) http://identifiers.org/clinvar/310784 ^@ NM_003276.2(TMPO):c.*524A>G http://identifiers.org/clinvar/366944 ^@ NM_001042413.1(GLIS3):c.*712C>T http://identifiers.org/clinvar/310884 ^@ NM_004115.3(FGF14):c.*744C>A http://identifiers.org/clinvar/366544 ^@ NM_203447.3(DOCK8):c.550G>A (p.Val184Met) http://identifiers.org/clinvar/367094 ^@ NM_203447.3(DOCK8):c.6201A>G (p.Glu2067=) http://identifiers.org/clinvar/321908 ^@ NM_006445.3(PRPF8):c.1855-13C>T http://identifiers.org/clinvar/322058 ^@ NM_144997.5(FLCN):c.*290C>T http://identifiers.org/clinvar/322108 ^@ NM_016239.3(MYO15A):c.447G>C (p.Ser149=) http://identifiers.org/clinvar/340672 ^@ NM_014339.6(IL17RA):c.*3092A>T http://identifiers.org/clinvar/312823 ^@ NM_001126106.2(SLC7A7):c.487G>T (p.Ala163Ser) http://identifiers.org/clinvar/312973 ^@ NM_000359.2(TGM1):c.2088+14G>T http://identifiers.org/clinvar/322308 ^@ NM_000430.3(PAFAH1B1):c.*2603G>C http://identifiers.org/clinvar/341122 ^@ NM_000268.3(NF2):c.*1823C>T http://identifiers.org/clinvar/341222 ^@ NM_000355.3(TCN2):c.*300T>G http://identifiers.org/clinvar/313273 ^@ NM_018139.2(DNAAF2):c.*182delT http://identifiers.org/clinvar/341572 ^@ NM_153609.3(TMPRSS6):c.*499C>T http://identifiers.org/clinvar/341722 ^@ NM_022098.3(XPNPEP3):c.*2881C>T http://identifiers.org/clinvar/341922 ^@ NM_025225.2(PNPLA3):c.-112A>T http://identifiers.org/clinvar/323297 ^@ NM_000263.3(NAGLU):c.788C>T (p.Thr263Met) http://identifiers.org/clinvar/368023 ^@ NM_001018113.2(FANCB):c.1817G>A (p.Ser606Asn) http://identifiers.org/clinvar/316272 ^@ NM_000338.2(SLC12A1):c.2607T>C (p.Ile869=) http://identifiers.org/clinvar/324047 ^@ NM_000023.3(SGCA):c.*90A>G http://identifiers.org/clinvar/324204 ^@ NM_015294.4(TRIM37):c.861-6C>T http://identifiers.org/clinvar/316472 ^@ NM_031226.2(CYP19A1):c.976C>T (p.Pro326Ser) http://identifiers.org/clinvar/324254 ^@ NM_018488.3(TBX4):c.791+11G>A http://identifiers.org/clinvar/316622 ^@ NM_004580.4(RAB27A):c.*1647T>G http://identifiers.org/clinvar/324356 ^@ NM_032043.2(BRIP1):c.-237dupT http://identifiers.org/clinvar/316672 ^@ NM_000236.2(LIPC):c.1064A>G (p.Gln355Arg) http://identifiers.org/clinvar/324506 ^@ NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) http://identifiers.org/clinvar/316722 ^@ NM_016630.6(SPG21):c.114C>A (p.Gly38=) http://identifiers.org/clinvar/324606 ^@ NM_014336.4(AIPL1):c.*147A>C http://identifiers.org/clinvar/317022 ^@ NM_014249.3(NR2E3):c.*144A>T http://identifiers.org/clinvar/317172 ^@ NM_003978.4(PSTPIP1):c.326G>A (p.Arg109His) http://identifiers.org/clinvar/324906 ^@ NM_000346.3(SOX9):c.-85G>A http://identifiers.org/clinvar/317322 ^@ NM_002693.2(POLG):c.3549C>T (p.Val1183=) http://identifiers.org/clinvar/317423 ^@ NM_018668.4(VPS33B):c.1148T>C (p.Ile383Thr) http://identifiers.org/clinvar/317523 ^@ NM_000875.4(IGF1R):c.*1991G>A http://identifiers.org/clinvar/317773 ^@ NM_004862.3(LITAF):c.*421C>T http://identifiers.org/clinvar/316122 ^@ NM_014080.4(DUOX2):c.*1244T>A http://identifiers.org/clinvar/317923 ^@ NM_001287.5(CLCN7):c.*887C>T http://identifiers.org/clinvar/316172 ^@ NM_014080.4(DUOX2):c.2148+10G>A http://identifiers.org/clinvar/372067 ^@ NM_006231.3(POLE):c.4150-13G>A http://identifiers.org/clinvar/372117 ^@ NM_032667.6(BSCL2):c.574-2A>G http://identifiers.org/clinvar/372191 ^@ NM_003805.4(CRADD):c.509G>A (p.Arg170His) http://identifiers.org/clinvar/372247 ^@ NM_020810.3(TRMT5):c.872G>A (p.Arg291His) http://identifiers.org/clinvar/372767 ^@ NM_002016.1(FLG):c.3757G>T (p.Gly1253Ter) http://identifiers.org/clinvar/373373 ^@ NM_001271208.1(NEB):c.2200C>G (p.Gln734Glu) http://identifiers.org/clinvar/372665 ^@ NM_016343.3(CENPF):c.2186C>T (p.Thr729Ile) http://identifiers.org/clinvar/372973 ^@ NM_021007.2(SCN2A):c.4780T>C (p.Trp1594Arg) http://identifiers.org/clinvar/373173 ^@ NM_001256850.1(TTN):c.82196-12C>G http://identifiers.org/clinvar/372613 ^@ NM_002880.3(RAF1):c.791A>T (p.His264Leu) http://identifiers.org/clinvar/373273 ^@ NM_020732.3(ARID1B):c.2879+2T>C http://identifiers.org/clinvar/372818 ^@ NM_004408.3(DNM1):c.1607G>A (p.Gly536Glu) http://identifiers.org/clinvar/372717 ^@ NM_003172.3(SURF1):c.758_759delCA (p.Thr253Serfs) http://identifiers.org/clinvar/372404 ^@ NM_006059.3(LAMC3):c.2227A>G (p.Asn743Asp) http://identifiers.org/clinvar/373323 ^@ NM_000093.4(COL5A1):c.2983C>G (p.Pro995Ala) http://identifiers.org/clinvar/373023 ^@ NM_003482.3(KMT2D):c.8366+1G>A http://identifiers.org/clinvar/372870 ^@ NM_005422.2(TECTA):c.3368delC (p.Pro1123Hisfs) http://identifiers.org/clinvar/372563 ^@ NM_005249.4(FOXG1):c.460delG (p.Glu154Argfs) http://identifiers.org/clinvar/372922 ^@ NM_000138.4(FBN1):c.7204+3A>G http://identifiers.org/clinvar/373123 ^@ NM_002968.2(SALL1):c.1763dupC (p.Gly589Argfs) http://identifiers.org/clinvar/373223 ^@ NM_000023.3(SGCA):c.981C>T (p.Ser327=) http://identifiers.org/clinvar/373573 ^@ NM_172107.3(KCNQ2):c.776A>G (p.Asp259Gly) http://identifiers.org/clinvar/372511 ^@ NM_003073.4(SMARCB1):c.1121G>A (p.Arg374Gln) http://identifiers.org/clinvar/373423 ^@ NM_005334.2(HCFC1):c.4475C>G (p.Pro1492Arg) http://identifiers.org/clinvar/372458 ^@ NM_000444.5(PHEX):c.1483-1G>A http://identifiers.org/clinvar/373473 ^@ NM_001099922.2(ALG13):c.1304A>G (p.Asn435Ser) http://identifiers.org/clinvar/373523 ^@ NM_000744.6(CHRNA4):c.1369G>A (p.Ala457Thr) http://identifiers.org/clinvar/372303 ^@ NM_000487.5(ARSA):c.979G>A (p.Gly327Ser) http://identifiers.org/clinvar/372353 ^@ NM_000397.3(CYBB):c.674+4_674+7delAGTG http://identifiers.org/clinvar/373073 ^@ NM_001042498.2(SLC35A2):c.637_639delTCC (p.Ser213del) http://identifiers.org/clinvar/390302 ^@ NM_015120.4(ALMS1):c.3293A>G (p.Tyr1098Cys) http://identifiers.org/clinvar/381329 ^@ NM_000251.2(MSH2):c.2655G>A (p.Gln885=) http://identifiers.org/clinvar/380427 ^@ NM_000179.2(MSH6):c.1524G>A (p.Val508=) http://identifiers.org/clinvar/389802 ^@ NM_001079.3(ZAP70):c.1467C>T (p.Asp489=) http://identifiers.org/clinvar/389352 ^@ NM_002880.3(RAF1):c.1824G>A (p.Leu608=) http://identifiers.org/clinvar/381579 ^@ NM_003907.2(EIF2B5):c.1016G>A (p.Arg339Gln) http://identifiers.org/clinvar/378634 ^@ NM_005633.3(SOS1):c.1566T>C (p.Asn522=) http://identifiers.org/clinvar/379286 ^@ NM_000249.3(MLH1):c.545+1G>T http://identifiers.org/clinvar/381729 ^@ NM_000128.3(F11):c.1199C>T (p.Pro400Leu) http://identifiers.org/clinvar/384123 ^@ NM_001080517.2(SETD5):c.2725-4T>A http://identifiers.org/clinvar/384624 ^@ NM_024582.4(FAT4):c.1101A>G (p.Val367=) http://identifiers.org/clinvar/377976 ^@ NM_002185.3(IL7R):c.132C>T (p.Ser44=) http://identifiers.org/clinvar/390402 ^@ NM_022132.4(MCCC2):c.1509G>A (p.Ala503=) http://identifiers.org/clinvar/383171 ^@ NM_001184.3(ATR):c.3171+1G>A http://identifiers.org/clinvar/377926 ^@ NM_032380.4(GFM2):c.1912+11C>T http://identifiers.org/clinvar/379486 ^@ NM_001184.3(ATR):c.992A>G (p.Asp331Gly) http://identifiers.org/clinvar/378584 ^@ NM_003060.3(SLC22A5):c.798G>A (p.Pro266=) http://identifiers.org/clinvar/384574 ^@ NM_003060.3(SLC22A5):c.1434C>T (p.Pro478=) http://identifiers.org/clinvar/385324 ^@ NM_001100164.1(PHACTR2):c.1646-9A>G http://identifiers.org/clinvar/381679 ^@ NM_022455.4(NSD1):c.5609A>G (p.Tyr1870Cys) http://identifiers.org/clinvar/380627 ^@ NM_032380.4(GFM2):c.109C>T (p.Pro37Ser) http://identifiers.org/clinvar/387063 ^@ NM_002454.2(MTRR):c.780+20T>C http://identifiers.org/clinvar/385624 ^@ NM_182896.2(ARL13B):c.626G>A (p.Arg209His) http://identifiers.org/clinvar/389852 ^@ NM_183075.2(CYP2U1):c.-22C>A http://identifiers.org/clinvar/378836 ^@ NM_178012.4(TUBB2B):c.533C>T (p.Thr178Met) http://identifiers.org/clinvar/378382 ^@ NM_000535.6(PMS2):c.23+19C>G http://identifiers.org/clinvar/387563 ^@ NM_058246.3(DNAJB6):c.175+13G>A http://identifiers.org/clinvar/389252 ^@ NM_000162.3(GCK):c.9C>T (p.Asp3=) http://identifiers.org/clinvar/389952 ^@ NM_014244.4(ADAMTS2):c.2751-15G>A http://identifiers.org/clinvar/385124 ^@ NM_000535.6(PMS2):c.988+4A>G http://identifiers.org/clinvar/390102 ^@ NM_024531.4(SLC52A2):c.178C>T (p.Leu60=) http://identifiers.org/clinvar/379686 ^@ NM_003172.3(SURF1):c.681G>A (p.Trp227Ter) http://identifiers.org/clinvar/385174 ^@ NM_000093.4(COL5A1):c.278-4C>A http://identifiers.org/clinvar/389652 ^@ NM_017617.4(NOTCH1):c.7356G>A (p.Ala2452=) http://identifiers.org/clinvar/380477 ^@ NM_024790.6(CSPP1):c.2524-12T>A http://identifiers.org/clinvar/381379 ^@ NM_001130438.2(SPTAN1):c.3099G>T (p.Glu1033Asp) http://identifiers.org/clinvar/393201 ^@ NM_003165.3(STXBP1):c.767T>C (p.Leu256Pro) http://identifiers.org/clinvar/386713 ^@ NM_033087.3(ALG2):c.663C>T (p.Pro221=) http://identifiers.org/clinvar/380376 ^@ NM_001130438.2(SPTAN1):c.7222G>A (p.Val2408Ile) http://identifiers.org/clinvar/390452 ^@ NM_006393.2(NEBL):c.1776+18C>G http://identifiers.org/clinvar/135196 ^@ NM_003002.3(SDHD):c.101T>G (p.Phe34Cys) http://identifiers.org/clinvar/135246 ^@ NM_001128849.1(SMARCA4):c.76G>A (p.Ala26Thr) http://identifiers.org/clinvar/135297 ^@ NM_001127208.2(TET2):c.5152G>T (p.Val1718Leu) http://identifiers.org/clinvar/135347 ^@ NM_006290.3(TNFAIP3):c.2140C>G (p.Pro714Ala) http://identifiers.org/clinvar/135398 ^@ NM_000369.2(TSHR):c.1270G>A (p.Val424Ile) http://identifiers.org/clinvar/135448 ^@ NM_000553.4(WRN):c.720T>G (p.Asn240Lys) http://identifiers.org/clinvar/135498 ^@ NM_000545.6(HNF1A):c.1309+85_1309+86insTCAT http://identifiers.org/clinvar/135612 ^@ NM_002136.3(HNRNPA1):c.941A>G (p.Tyr314Cys) http://identifiers.org/clinvar/135683 ^@ NM_000038.5(APC):c.120G>A (p.Glu40=) http://identifiers.org/clinvar/135734 ^@ NM_000051.3(ATM):c.1575G>C (p.Lys525Asn) http://identifiers.org/clinvar/135787 ^@ NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) http://identifiers.org/clinvar/135843 ^@ NM_000179.2(MSH6):c.628-7C>A http://identifiers.org/clinvar/135893 ^@ NM_000264.3(PTCH1):c.3549+10G>C http://identifiers.org/clinvar/135943 ^@ NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) http://identifiers.org/clinvar/135995 ^@ NM_001166110.1(PALLD):c.121C>G (p.Pro41Ala) http://identifiers.org/clinvar/185448 ^@ NM_001042492.2(NF1):c.7392delT (p.Asp2465Ilefs) http://identifiers.org/clinvar/184948 ^@ NM_001042492.2(NF1):c.7528A>G (p.Thr2510Ala) http://identifiers.org/clinvar/184398 ^@ NM_002878.3(RAD51D):c.957G>A (p.Gln319=) http://identifiers.org/clinvar/185048 ^@ NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) http://identifiers.org/clinvar/185348 ^@ NM_007294.3(BRCA1):c.4144T>A (p.Cys1382Ser) http://identifiers.org/clinvar/185998 ^@ NM_007294.3(BRCA1):c.341C>G (p.Ser114Cys) http://identifiers.org/clinvar/184248 ^@ NM_032043.2(BRIP1):c.1653G>A (p.Ala551=) http://identifiers.org/clinvar/185848 ^@ NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) http://identifiers.org/clinvar/186048 ^@ NM_000546.5(TP53):c.654G>A (p.Val218=) http://identifiers.org/clinvar/185498 ^@ NM_000546.5(TP53):c.615T>A (p.Tyr205Ter) http://identifiers.org/clinvar/185898 ^@ NM_000455.4(STK11):c.408G>A (p.Met136Ile) http://identifiers.org/clinvar/184848 ^@ NM_007194.3(CHEK2):c.926T>A (p.Leu309Gln) http://identifiers.org/clinvar/190152 ^@ NM_000124.3(ERCC6):c.1684_1705del http://identifiers.org/clinvar/242610 ^@ NM_000372.4(TYR):c.1276_1282delATGGTTC (p.Met426Leufs) http://identifiers.org/clinvar/190258 ^@ NM_002658.4(PLAU):c.172G>A (p.Gly58Arg) http://identifiers.org/clinvar/190393 ^@ NM_001288953.1(TTC7A):c.1474C>T (p.Gln492Ter) http://identifiers.org/clinvar/228559 ^@ NM_004403.2(DFNA5):c.830C>T (p.Ser277Phe) http://identifiers.org/clinvar/228009 ^@ NM_004817.3(TJP2):c.2819C>T (p.Pro940Leu) http://identifiers.org/clinvar/228459 ^@ NM_004281.3(BAG3):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/227227 ^@ NM_022124.5(CDH23):c.5025C>T (p.Val1675=) http://identifiers.org/clinvar/228509 ^@ NM_022124.5(CDH23):c.9746A>G (p.Gln3249Arg) http://identifiers.org/clinvar/227177 ^@ NM_014391.2(ANKRD1):c.441T>C (p.Asp147=) http://identifiers.org/clinvar/227428 ^@ NM_000195.4(HPS1):c.1239G>T (p.Pro413=) http://identifiers.org/clinvar/229109 ^@ NM_001277269.1(OTOG):c.935A>G (p.His312Arg) http://identifiers.org/clinvar/227808 ^@ NM_001277269.1(OTOG):c.8682G>A (p.Leu2894=) http://identifiers.org/clinvar/229009 ^@ NM_000260.3(MYO7A):c.5600C>T (p.Ala1867Val) http://identifiers.org/clinvar/226976 ^@ NM_173591.3(OTOGL):c.7020G>A (p.Thr2340=) http://identifiers.org/clinvar/227077 ^@ NM_001127217.2(SMAD9):c.756T>C (p.His252=) http://identifiers.org/clinvar/228659 ^@ NM_000115.4(EDNRB):c.*1632C>A http://identifiers.org/clinvar/228909 ^@ NM_000257.3(MYH7):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/228259 ^@ NM_004452.3(ESRRB):c.1025_1026delTG (p.Val342Aspfs) http://identifiers.org/clinvar/227278 ^@ NM_001888.4(CRYM):c.662C>T (p.Ala221Val) http://identifiers.org/clinvar/228759 ^@ NM_001130089.1(KARS):c.-97G>T http://identifiers.org/clinvar/228959 ^@ NM_016239.3(MYO15A):c.5803C>G (p.Arg1935Gly) http://identifiers.org/clinvar/227708 ^@ NM_003803.3(MYOM1):c.93G>A (p.Arg31=) http://identifiers.org/clinvar/228809 ^@ NM_001145472.2(LOXHD1):c.1780_1792dupAGCTGCTGGCTGG (p.Val598Glufs) http://identifiers.org/clinvar/227528 ^@ NM_144612.6(LOXHD1):c.5050G>A (p.Ala1684Thr) http://identifiers.org/clinvar/227378 ^@ NM_133261.2(GIPC3):c.192G>A (p.Lys64=) http://identifiers.org/clinvar/227127 ^@ NM_001039141.2(TRIOBP):c.6571C>T (p.His2191Tyr) http://identifiers.org/clinvar/227959 ^@ NM_006941.3(SOX10):c.207C>T (p.Pro69=) http://identifiers.org/clinvar/228859 ^@ NC_012920.1:m.7502C>T http://identifiers.org/clinvar/227478 ^@ NM_002290.4(LAMA4):c.3798C>T (p.Phe1266=) http://identifiers.org/clinvar/230300 ^@ NM_001128425.1(MUTYH):c.680C>T (p.Ala227Val) http://identifiers.org/clinvar/231100 ^@ NM_001128425.1(MUTYH):c.652T>C (p.Tyr218His) http://identifiers.org/clinvar/230000 ^@ NM_000251.2(MSH2):c.-68-114C>T http://identifiers.org/clinvar/230450 ^@ NM_000251.2(MSH2):c.2607A>G (p.Ala869=) http://identifiers.org/clinvar/229850 ^@ NM_000251.2(MSH2):c.2771A>G (p.Asn924Ser) http://identifiers.org/clinvar/231150 ^@ NM_000179.2(MSH6):c.122C>A (p.Ser41Tyr) http://identifiers.org/clinvar/233490 ^@ NM_000179.2(MSH6):c.1303C>T (p.Leu435=) http://identifiers.org/clinvar/233140 ^@ NM_000249.3(MLH1):c.752A>G (p.Tyr251Cys) http://identifiers.org/clinvar/230050 ^@ NM_000038.5(APC):c.1866C>T (p.Tyr622=) http://identifiers.org/clinvar/263825 ^@ NM_000138.4(FBN1):c.412A>C (p.Lys138Gln) http://identifiers.org/clinvar/264175 ^@ NM_000138.4(FBN1):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/263725 ^@ NM_002294.2(LAMP2):c.1069G>A (p.Val357Met) http://identifiers.org/clinvar/265952 ^@ NC_000011.10:g.(?_108365082)_(108365508_?)dup http://identifiers.org/clinvar/264951 ^@ NM_000059.3(BRCA2):c.426-414C>T http://identifiers.org/clinvar/264901 ^@ NM_000059.3(BRCA2):c.8633-1093dup http://identifiers.org/clinvar/265156 ^@ NM_002016.1(FLG):c.2476C>T (p.Arg826Ter) http://identifiers.org/clinvar/265662 ^@ NM_021007.2(SCN2A):c.1649delA (p.Lys550Argfs) http://identifiers.org/clinvar/265003 ^@ NM_173076.2(ABCA12):c.2531A>G (p.Asp844Gly) http://identifiers.org/clinvar/265260 ^@ NM_024592.4(SRD5A3):c.744T>G (p.Phe248Leu) http://identifiers.org/clinvar/265361 ^@ NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) http://identifiers.org/clinvar/265612 ^@ NM_000168.5(GLI3):c.1697delA (p.His566Profs) http://identifiers.org/clinvar/265056 ^@ NM_000059.3(BRCA2):c.4412_4414delGAA (p.Arg1471del) http://identifiers.org/clinvar/265562 ^@ NM_024675.3(PALB2):c.2996+1G>T http://identifiers.org/clinvar/265511 ^@ NM_004360.4(CDH1):c.1578G>A (p.Trp526Ter) http://identifiers.org/clinvar/265311 ^@ NM_004247.3(EFTUD2):c.1860+2delT http://identifiers.org/clinvar/265106 ^@ NM_017653.3(DYM):c.1504C>T (p.Gln502Ter) http://identifiers.org/clinvar/265207 ^@ NM_004975.3(KCNB1):c.934C>T (p.Arg312Cys) http://identifiers.org/clinvar/265461 ^@ NM_000487.5(ARSA):c.474C>A (p.Cys158Ter) http://identifiers.org/clinvar/265411 ^@ NM_004006.2(DMD):c.9148C>T (p.Gln3050Ter) http://identifiers.org/clinvar/265744 ^@ NM_000902.3(MME):c.1265C>A (p.Ala422Asp) http://identifiers.org/clinvar/265841 ^@ NM_012343.3(NNT):c.(-51+1_-53-1)_(381+1_382-1) http://identifiers.org/clinvar/265901 ^@ NM_000527.4(LDLR):c.1061-?_1845+?del http://identifiers.org/clinvar/266006 ^@ NM_000091.4(COL4A3):c.765G>A (p.Thr255=) http://identifiers.org/clinvar/266083 ^@ NM_031885.3(BBS2):c.806T>G (p.Val269Gly) http://identifiers.org/clinvar/290912 ^@ NM_033071.3(SYNE1):c.17786T>A (p.Met5929Lys) http://identifiers.org/clinvar/290962 ^@ NM_003690.4(PRKRA):c.704G>C (p.Ser235Thr) http://identifiers.org/clinvar/291012 ^@ NM_000094.3(COL7A1):c.3971delT (p.Leu1324Glnfs) http://identifiers.org/clinvar/291062 ^@ NM_003494.3(DYSF):c.3844-4C>G http://identifiers.org/clinvar/291112 ^@ NM_000096.3(CP):c.1350T>C (p.Gly450=) http://identifiers.org/clinvar/291163 ^@ NM_000018.3(ACADVL):c.869dupG (p.Ile291Hisfs) http://identifiers.org/clinvar/291213 ^@ NM_033071.3(SYNE1):c.14689G>A (p.Ala4897Thr) http://identifiers.org/clinvar/291263 ^@ NM_005603.4(ATP8B1):c.903G>A (p.Arg301=) http://identifiers.org/clinvar/291378 ^@ NM_001918.3(DBT):c.*8977T>C http://identifiers.org/clinvar/291630 ^@ NM_015074.3(KIF1B):c.*2786G>A http://identifiers.org/clinvar/291730 ^@ NM_007375.3(TARDBP):c.-110C>T http://identifiers.org/clinvar/292030 ^@ NM_138959.2(VANGL1):c.*929G>A http://identifiers.org/clinvar/291680 ^@ NM_004565.2(PEX14):c.883C>T (p.Pro295Ser) http://identifiers.org/clinvar/292430 ^@ NM_213653.3(HFE2):c.929C>G (p.Ala310Gly) http://identifiers.org/clinvar/291980 ^@ NM_002524.4(NRAS):c.-208T>A http://identifiers.org/clinvar/292480 ^@ NM_005850.4(SF3B4):c.543C>T (p.Asp181=) http://identifiers.org/clinvar/292080 ^@ NM_138959.2(VANGL1):c.*4846G>C http://identifiers.org/clinvar/292630 ^@ NM_152263.3(TPM3):c.*5577C>T http://identifiers.org/clinvar/292130 ^@ NM_001232.3(CASQ2):c.855G>C (p.Leu285=) http://identifiers.org/clinvar/292180 ^@ NM_005957.4(MTHFR):c.*3028G>C http://identifiers.org/clinvar/292680 ^@ NM_152263.3(TPM3):c.*1097C>T http://identifiers.org/clinvar/292230 ^@ NM_005957.4(MTHFR):c.1949C>T (p.Ala650Val) http://identifiers.org/clinvar/292280 ^@ NM_000302.3(PLOD1):c.235C>T (p.Arg79Trp) http://identifiers.org/clinvar/292880 ^@ NM_001012331.1(NTRK1):c.631G>A (p.Val211Met) http://identifiers.org/clinvar/292330 ^@ NM_005518.3(HMGCS2):c.1419G>A (p.Lys473=) http://identifiers.org/clinvar/292930 ^@ NM_003126.2(SPTA1):c.*131_*132delTG http://identifiers.org/clinvar/292380 ^@ NM_014874.3(MFN2):c.*57C>T http://identifiers.org/clinvar/293080 ^@ NM_002241.4(KCNJ10):c.*2675_*2676delGG http://identifiers.org/clinvar/293130 ^@ NM_000702.3(ATP1A2):c.631-6C>T http://identifiers.org/clinvar/292530 ^@ NM_019032.5(ADAMTSL4):c.1131+15G>A http://identifiers.org/clinvar/293430 ^@ NM_004431.4(EPHA2):c.1532C>T (p.Thr511Met) http://identifiers.org/clinvar/292580 ^@ NM_000396.3(CTSK):c.890+6G>A http://identifiers.org/clinvar/293380 ^@ NM_006182.2(DDR2):c.2068A>G (p.Met690Val) http://identifiers.org/clinvar/292730 ^@ NM_001111.4(ADAR):c.*943C>A http://identifiers.org/clinvar/292780 ^@ NM_001111.4(ADAR):c.1113T>C (p.Ser371=) http://identifiers.org/clinvar/292830 ^@ NM_005572.3(LMNA):c.-109G>T http://identifiers.org/clinvar/293180 ^@ NM_000702.3(ATP1A2):c.*1630C>T http://identifiers.org/clinvar/293230 ^@ NM_002857.3(PEX19):c.402T>C (p.Ser134=) http://identifiers.org/clinvar/294119 ^@ NM_031935.2(HMCN1):c.2212+8T>G http://identifiers.org/clinvar/293330 ^@ NM_003001.3(SDHC):c.*527G>T http://identifiers.org/clinvar/294219 ^@ NM_031935.2(HMCN1):c.10169G>A (p.Arg3390Gln) http://identifiers.org/clinvar/293280 ^@ NM_004550.4(NDUFS2):c.1213-9delC http://identifiers.org/clinvar/294269 ^@ NM_031935.2(HMCN1):c.13888G>A (p.Val4630Met) http://identifiers.org/clinvar/294469 ^@ NM_024529.4(CDC73):c.*3786T>A http://identifiers.org/clinvar/294519 ^@ NM_000186.3(CFH):c.3138C>T (p.Thr1046=) http://identifiers.org/clinvar/294569 ^@ NM_001994.2(F13B):c.1902G>A (p.Met634Ile) http://identifiers.org/clinvar/294619 ^@ NM_018136.4(ASPM):c.5967G>A (p.Lys1989=) http://identifiers.org/clinvar/294669 ^@ NM_201253.2(CRB1):c.1172-15T>A http://identifiers.org/clinvar/294769 ^@ NM_000069.2(CACNA1S):c.1143C>T (p.Phe381=) http://identifiers.org/clinvar/294919 ^@ NM_003465.2(CHIT1):c.1076C>G (p.Ala359Gly) http://identifiers.org/clinvar/294869 ^@ NM_001005337.2(PKP1):c.*1604C>T http://identifiers.org/clinvar/295119 ^@ NM_000228.2(LAMB3):c.1008G>A (p.Gln336=) http://identifiers.org/clinvar/295019 ^@ NM_032409.2(PINK1):c.*490A>C http://identifiers.org/clinvar/343561 ^@ NM_004628.4(XPC):c.*89G>C http://identifiers.org/clinvar/336364 ^@ NM_139279.5(MCFD2):c.*1042C>T http://identifiers.org/clinvar/344511 ^@ NM_015560.2(OPA1):c.*2286T>C http://identifiers.org/clinvar/345450 ^@ NM_024513.3(FYCO1):c.*2757C>A http://identifiers.org/clinvar/345600 ^@ NM_000316.2(PTH1R):c.1636G>A (p.Glu546Lys) http://identifiers.org/clinvar/345650 ^@ NM_015175.2(NBEAL2):c.3108C>T (p.Ala1036=) http://identifiers.org/clinvar/345900 ^@ NM_002222.5(ITPR1):c.*279A>G http://identifiers.org/clinvar/346050 ^@ NM_144499.2(GNAT1):c.675C>T (p.Ala225=) http://identifiers.org/clinvar/346100 ^@ NM_153281.1(HYAL1):c.-384G>A http://identifiers.org/clinvar/346450 ^@ NM_198859.3(PRICKLE2):c.*1763G>A http://identifiers.org/clinvar/346500 ^@ NM_000248.3(MITF):c.999A>T (p.Ala333=) http://identifiers.org/clinvar/342611 ^@ NM_000796.5(DRD3):c.-318C>T http://identifiers.org/clinvar/350230 ^@ NM_000203.4(IDUA):c.1345C>A (p.His449Asn) http://identifiers.org/clinvar/342661 ^@ NM_020754.3(ARHGAP31):c.2777C>T (p.Ala926Val) http://identifiers.org/clinvar/342761 ^@ NM_000187.3(HGD):c.-241A>G http://identifiers.org/clinvar/342711 ^@ NM_020754.3(ARHGAP31):c.*2101A>T http://identifiers.org/clinvar/342811 ^@ NM_000388.3(CASR):c.*625G>A http://identifiers.org/clinvar/342861 ^@ NM_053025.3(MYLK):c.*95C>G http://identifiers.org/clinvar/342911 ^@ NM_053025.3(MYLK):c.-72C>T http://identifiers.org/clinvar/342961 ^@ NM_000373.3(UMPS):c.*1418T>A http://identifiers.org/clinvar/346200 ^@ NM_052859.3(RFT1):c.64-14C>T http://identifiers.org/clinvar/343011 ^@ NM_000373.3(UMPS):c.*3589C>T http://identifiers.org/clinvar/343061 ^@ NM_025265.3(TSEN2):c.-200C>T http://identifiers.org/clinvar/346300 ^@ NM_001457.3(FLNB):c.544C>T (p.Leu182=) http://identifiers.org/clinvar/343111 ^@ NM_032638.4(GATA2):c.*1229A>G http://identifiers.org/clinvar/346400 ^@ NM_000925.3(PDHB):c.*243A>C http://identifiers.org/clinvar/343461 ^@ NM_000532.4(PCCB):c.263A>G (p.His88Arg) http://identifiers.org/clinvar/347939 ^@ NM_000824.4(GLRB):c.*516G>A http://identifiers.org/clinvar/348039 ^@ NM_001166108.1(PALLD):c.1433G>A (p.Gly478Glu) http://identifiers.org/clinvar/346600 ^@ NM_032682.5(FOXP1):c.*1536G>A http://identifiers.org/clinvar/343611 ^@ NM_001184.3(ATR):c.3241C>T (p.Leu1081=) http://identifiers.org/clinvar/343661 ^@ NM_000935.2(PLOD2):c.-478G>C http://identifiers.org/clinvar/348139 ^@ NM_000320.2(QDPR):c.*622T>C http://identifiers.org/clinvar/346700 ^@ NM_002942.4(ROBO2):c.2432G>A (p.Arg811Gln) http://identifiers.org/clinvar/343811 ^@ NM_174878.2(CLRN1):c.*299_*304delGTGTGT http://identifiers.org/clinvar/348389 ^@ NM_000128.3(F11):c.*728T>C http://identifiers.org/clinvar/343911 ^@ NM_000060.4(BTD):c.1174C>T (p.Pro392Ser) http://identifiers.org/clinvar/348439 ^@ NM_133330.2(NSD2):c.2352G>T (p.Arg784=) http://identifiers.org/clinvar/353577 ^@ NM_002310.5(LIFR):c.*1859A>C http://identifiers.org/clinvar/353627 ^@ NM_002310.5(LIFR):c.1304C>T (p.Thr435Ile) http://identifiers.org/clinvar/353777 ^@ NM_002203.3(ITGA2):c.3110delT (p.Phe1037Serfs) http://identifiers.org/clinvar/358306 ^@ NM_000602.4(SERPINE1):c.-54C>T http://identifiers.org/clinvar/358356 ^@ NM_198999.2(SLC26A5):c.471C>T (p.Val157=) http://identifiers.org/clinvar/353927 ^@ NM_001104631.1(PDE4D):c.*3875G>A http://identifiers.org/clinvar/353977 ^@ NM_001104631.1(PDE4D):c.*780G>C http://identifiers.org/clinvar/354327 ^@ NM_000046.3(ARSB):c.-507T>C http://identifiers.org/clinvar/358606 ^@ NM_014491.3(FOXP2):c.988A>T (p.Ser330Cys) http://identifiers.org/clinvar/358706 ^@ NM_001127500.2(MET):c.*656G>A http://identifiers.org/clinvar/354227 ^@ NM_003664.4(AP3B1):c.2405A>G (p.Glu802Gly) http://identifiers.org/clinvar/358906 ^@ NM_018718.2(CEP41):c.*3507C>T http://identifiers.org/clinvar/358956 ^@ NM_005989.3(AKR1D1):c.*36C>T http://identifiers.org/clinvar/354627 ^@ NM_000439.4(PCSK1):c.*905T>C http://identifiers.org/clinvar/354477 ^@ NM_004385.4(VCAN):c.*813_*816dupTACC http://identifiers.org/clinvar/354577 ^@ NM_002397.4(MEF2C):c.*2049T>A http://identifiers.org/clinvar/354677 ^@ NM_005068.2(SIM1):c.1569T>C (p.His523=) http://identifiers.org/clinvar/359256 ^@ NM_014141.5(CNTNAP2):c.*3802G>A http://identifiers.org/clinvar/354727 ^@ NM_001491.2(GCNT2):c.*1174T>C http://identifiers.org/clinvar/354827 ^@ NM_007214.4(SEC63):c.*3334C>T http://identifiers.org/clinvar/354877 ^@ NM_007214.4(SEC63):c.*1108A>G http://identifiers.org/clinvar/359506 ^@ NM_001101426.3(ISPD):c.*3087G>A http://identifiers.org/clinvar/359606 ^@ NM_001277115.1(DNAH11):c.1978T>C (p.Leu660=) http://identifiers.org/clinvar/355467 ^@ NM_172105.3(EYA4):c.*2302G>A http://identifiers.org/clinvar/355517 ^@ NM_017651.4(AHI1):c.-286C>G http://identifiers.org/clinvar/361095 ^@ NM_017890.4(VPS13B):c.11162G>A (p.Arg3721Gln) http://identifiers.org/clinvar/364254 ^@ NM_001701.3(BAAT):c.*1458G>A http://identifiers.org/clinvar/355717 ^@ NM_203395.2(IYD):c.*1616T>A http://identifiers.org/clinvar/355817 ^@ NM_033071.3(SYNE1):c.23619A>G (p.Ala7873=) http://identifiers.org/clinvar/364404 ^@ NM_005502.3(ABCA1):c.4195A>T (p.Thr1399Ser) http://identifiers.org/clinvar/355667 ^@ NM_003764.3(STX11):c.*4361C>T http://identifiers.org/clinvar/364504 ^@ NM_001079802.1(FKTN):c.*2265T>C http://identifiers.org/clinvar/364904 ^@ NM_002316.3(LMX1B):c.*438G>C http://identifiers.org/clinvar/355917 ^@ NM_033071.3(SYNE1):c.6910G>A (p.Gly2304Arg) http://identifiers.org/clinvar/360695 ^@ NM_000941.2(POR):c.189-10T>C http://identifiers.org/clinvar/356267 ^@ NM_001710.5(CFB):c.-3G>A http://identifiers.org/clinvar/364854 ^@ NM_000550.2(TYRP1):c.527C>T (p.Thr176Met) http://identifiers.org/clinvar/365054 ^@ NM_003165.3(STXBP1):c.*166C>T http://identifiers.org/clinvar/356367 ^@ NM_148919.3(PSMB8):c.167C>A (p.Ser56Tyr) http://identifiers.org/clinvar/360845 ^@ NM_005751.4(AKAP9):c.9358+10A>G http://identifiers.org/clinvar/365304 ^@ NM_015046.5(SETX):c.*2506T>C http://identifiers.org/clinvar/361145 ^@ NM_015713.4(RRM2B):c.*2497_*2501delAAGTT http://identifiers.org/clinvar/356667 ^@ NM_005943.5(MOCS1):c.358G>C (p.Asp120His) http://identifiers.org/clinvar/361195 ^@ NM_178857.5(RP1L1):c.*244C>T http://identifiers.org/clinvar/356717 ^@ NM_002098.5(GUCA1B):c.*503G>A http://identifiers.org/clinvar/356767 ^@ NM_000322.4(PRPH2):c.*468_*469delCT http://identifiers.org/clinvar/361395 ^@ NM_178857.5(RP1L1):c.792G>A (p.Ser264=) http://identifiers.org/clinvar/356917 ^@ NM_006502.2(POLH):c.*50A>G http://identifiers.org/clinvar/361605 ^@ NM_014112.4(TRPS1):c.3482A>G (p.Asn1161Ser) http://identifiers.org/clinvar/361496 ^@ NM_001715.2(BLK):c.1349G>A (p.Arg450His) http://identifiers.org/clinvar/366144 ^@ NM_144966.5(FREM1):c.2526T>C (p.Asp842=) http://identifiers.org/clinvar/367244 ^@ NM_138691.2(TMC1):c.-540C>T http://identifiers.org/clinvar/367294 ^@ NM_017662.4(TRPM6):c.*82G>A http://identifiers.org/clinvar/311484 ^@ NM_000231.2(SGCG):c.*136T>C http://identifiers.org/clinvar/303446 ^@ NM_016952.4(CDON):c.*2195G>A http://identifiers.org/clinvar/367473 ^@ NM_001698.2(AUH):c.*218_*219delAG http://identifiers.org/clinvar/311584 ^@ NM_018451.4(CENPJ):c.*890T>C http://identifiers.org/clinvar/367523 ^@ NM_004560.3(ROR2):c.-121A>C http://identifiers.org/clinvar/311734 ^@ NM_004795.3(KL):c.*1894T>G http://identifiers.org/clinvar/303646 ^@ NM_000890.3(KCNJ5):c.*747A>G http://identifiers.org/clinvar/366994 ^@ NM_203447.3(DOCK8):c.3790G>T (p.Ala1264Ser) http://identifiers.org/clinvar/364104 ^@ NM_004612.3(TGFBR1):c.*309C>T http://identifiers.org/clinvar/303946 ^@ NM_003476.4(CSRP3):c.*575T>C http://identifiers.org/clinvar/364204 ^@ NM_033087.3(ALG2):c.1129A>G (p.Ile377Val) http://identifiers.org/clinvar/367373 ^@ NM_033305.2(VPS13A):c.3108T>C (p.Ile1036=) http://identifiers.org/clinvar/298897 ^@ NM_004132.4(HABP2):c.158A>G (p.Glu53Gly) http://identifiers.org/clinvar/298947 ^@ NM_004281.3(BAG3):c.-294A>C http://identifiers.org/clinvar/304585 ^@ NM_207122.1(EXT2):c.1017T>C (p.Cys339=) http://identifiers.org/clinvar/313223 ^@ NM_020937.3(FANCM):c.4933C>T (p.Arg1645Cys) http://identifiers.org/clinvar/298797 ^@ NM_001134363.2(RBM20):c.2145C>T (p.Pro715=) http://identifiers.org/clinvar/299247 ^@ NM_006214.3(PHYH):c.679-11T>A http://identifiers.org/clinvar/299397 ^@ NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) http://identifiers.org/clinvar/299097 ^@ NM_001609.3(ACADSB):c.*109G>A http://identifiers.org/clinvar/299597 ^@ NM_201590.2(CACNB2):c.*621_*622insCA http://identifiers.org/clinvar/305187 ^@ NM_032667.6(BSCL2):c.-140A>C http://identifiers.org/clinvar/305237 ^@ NM_144585.3(SLC22A12):c.831-4T>C http://identifiers.org/clinvar/305387 ^@ NM_016938.4(EFEMP2):c.-13G>A http://identifiers.org/clinvar/305437 ^@ NM_053054.3(CATSPER1):c.970C>G (p.Gln324Glu) http://identifiers.org/clinvar/305487 ^@ NM_000391.3(TPP1):c.*1715T>C http://identifiers.org/clinvar/299897 ^@ NM_020975.4(RET):c.2070C>T (p.Ser690=) http://identifiers.org/clinvar/299347 ^@ NM_001081.3(CUBN):c.*195T>C http://identifiers.org/clinvar/299497 ^@ NM_001081.3(CUBN):c.2791+14C>T http://identifiers.org/clinvar/299547 ^@ NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) http://identifiers.org/clinvar/305937 ^@ NM_001360.2(DHCR7):c.*700G>A http://identifiers.org/clinvar/299847 ^@ NM_021252.4(RAB18):c.*1680A>T http://identifiers.org/clinvar/306200 ^@ NM_000260.3(MYO7A):c.5896G>A (p.Val1966Ile) http://identifiers.org/clinvar/299997 ^@ NM_002900.2(RBP3):c.78C>T (p.Ser26=) http://identifiers.org/clinvar/300647 ^@ NM_004273.4(CHST3):c.*3384G>A http://identifiers.org/clinvar/306401 ^@ NM_012193.3(FZD4):c.*2G>T http://identifiers.org/clinvar/300047 ^@ NM_000124.3(ERCC6):c.3481A>C (p.Ser1161Arg) http://identifiers.org/clinvar/306451 ^@ NM_005591.3(MRE11):c.*2452C>T http://identifiers.org/clinvar/300097 ^@ NM_000124.3(ERCC6):c.-22G>A http://identifiers.org/clinvar/300147 ^@ NM_000242.2(MBL2):c.483T>C (p.Ser161=) http://identifiers.org/clinvar/306501 ^@ NM_016156.5(MTMR2):c.*2357T>C http://identifiers.org/clinvar/306551 ^@ NM_030962.3(SBF2):c.*1619A>C http://identifiers.org/clinvar/306601 ^@ NM_030962.3(SBF2):c.2100+7G>A http://identifiers.org/clinvar/317623 ^@ NM_000875.4(IGF1R):c.*5788_*5789delTT http://identifiers.org/clinvar/311134 ^@ NM_001846.3(COL4A2):c.1777-7C>T http://identifiers.org/clinvar/329345 ^@ NM_030578.3(B9D2):c.151A>C (p.Ile51Leu) http://identifiers.org/clinvar/329395 ^@ NM_152296.4(ATP1A3):c.*315G>A http://identifiers.org/clinvar/311284 ^@ NM_021954.3(GJA3):c.*3389G>A http://identifiers.org/clinvar/311334 ^@ NM_021954.3(GJA3):c.1111G>A (p.Ala371Thr) http://identifiers.org/clinvar/329595 ^@ NM_025136.3(OPA3):c.*4853T>A http://identifiers.org/clinvar/311434 ^@ NM_002010.2(FGF9):c.*274_*275delAT http://identifiers.org/clinvar/329695 ^@ NM_000554.5(CRX):c.101-12A>G http://identifiers.org/clinvar/329795 ^@ NM_002103.4(GYS1):c.*824delT http://identifiers.org/clinvar/311634 ^@ NM_018451.4(CENPJ):c.-24A>G http://identifiers.org/clinvar/329995 ^@ NM_144687.3(NLRP12):c.*126G>C http://identifiers.org/clinvar/311884 ^@ NM_001127217.2(SMAD9):c.*396A>G http://identifiers.org/clinvar/312134 ^@ NM_020751.2(COG6):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/306701 ^@ NM_018979.3(WNK1):c.*1904dupC http://identifiers.org/clinvar/319064 ^@ NM_003041.3(SLC5A2):c.1449+14G>A http://identifiers.org/clinvar/310734 ^@ NM_002108.3(HAL):c.-231delG http://identifiers.org/clinvar/319264 ^@ NM_032575.2(GLIS2):c.*1830C>T http://identifiers.org/clinvar/310934 ^@ NM_000123.3(ERCC5):c.2600C>T (p.Pro867Leu) http://identifiers.org/clinvar/319615 ^@ NM_002968.2(SALL1):c.472_477dupAGCAGC (p.Ser159_Gly160insSerSer) http://identifiers.org/clinvar/319665 ^@ NM_015272.4(RPGRIP1L):c.444T>C (p.Thr148=) http://identifiers.org/clinvar/319765 ^@ NM_004530.5(MMP2):c.1769+10G>A http://identifiers.org/clinvar/319865 ^@ NM_031885.3(BBS2):c.634A>G (p.Met212Val) http://identifiers.org/clinvar/312873 ^@ NM_002471.3(MYH6):c.2141G>A (p.Arg714His) http://identifiers.org/clinvar/312923 ^@ NM_006177.3(NRL):c.*1127T>C http://identifiers.org/clinvar/313123 ^@ NM_001079668.2(NKX2-1):c.*581delC http://identifiers.org/clinvar/311684 ^@ NM_004795.3(KL):c.511C>A (p.Arg171Ser) http://identifiers.org/clinvar/311784 ^@ NM_000538.3(RFXAP):c.192C>G (p.Ser64Arg) http://identifiers.org/clinvar/311834 ^@ NM_001127217.2(SMAD9):c.*2684G>C http://identifiers.org/clinvar/313373 ^@ NM_000161.2(GCH1):c.*1056_*1057insAT http://identifiers.org/clinvar/311934 ^@ NM_207361.5(FREM2):c.135G>T (p.Pro45=) http://identifiers.org/clinvar/312034 ^@ NM_207361.5(FREM2):c.8842T>C (p.Tyr2948His) http://identifiers.org/clinvar/320904 ^@ NM_001127464.2(ZNF469):c.3180-9G>C http://identifiers.org/clinvar/321608 ^@ NM_000833.4(GRIN2A):c.2664G>A (p.Thr888=) http://identifiers.org/clinvar/321758 ^@ NM_002470.3(MYH3):c.1582-6A>G http://identifiers.org/clinvar/321808 ^@ NM_001303.3(COX10):c.-29C>A http://identifiers.org/clinvar/321858 ^@ NM_000304.3(PMP22):c.*115_*119delCAAAC http://identifiers.org/clinvar/342122 ^@ NM_015166.3(MLC1):c.-602G>C http://identifiers.org/clinvar/367723 ^@ NM_080632.2(UPF3B):c.*725G>A http://identifiers.org/clinvar/329045 ^@ NM_000540.2(RYR1):c.6128-3C>T http://identifiers.org/clinvar/327556 ^@ NM_005570.3(LMAN1):c.*1452_*1455delAACA http://identifiers.org/clinvar/327706 ^@ NM_133459.3(CCBE1):c.541C>T (p.Pro181Ser) http://identifiers.org/clinvar/329645 ^@ NM_025136.3(OPA3):c.*2089T>C http://identifiers.org/clinvar/327806 ^@ NM_005786.5(TSHZ1):c.507T>C (p.Tyr169=) http://identifiers.org/clinvar/328106 ^@ NM_000527.4(LDLR):c.*1743C>T http://identifiers.org/clinvar/330145 ^@ NM_024075.4(TSEN34):c.*948C>T http://identifiers.org/clinvar/328256 ^@ NM_000528.3(MAN2B1):c.2625C>T (p.Gly875=) http://identifiers.org/clinvar/330195 ^@ NM_003283.5(TNNT1):c.73+15T>G http://identifiers.org/clinvar/330245 ^@ NM_175614.4(NDUFA11):c.-234T>C http://identifiers.org/clinvar/328406 ^@ NM_000435.2(NOTCH3):c.2329C>T (p.Pro777Ser) http://identifiers.org/clinvar/330495 ^@ NM_020533.2(MCOLN1):c.815C>G (p.Pro272Arg) http://identifiers.org/clinvar/329095 ^@ NM_000540.2(RYR1):c.10042C>T (p.Arg3348Cys) http://identifiers.org/clinvar/329245 ^@ NM_181882.2(PRX):c.4376C>T (p.Ala1459Val) http://identifiers.org/clinvar/329845 ^@ NM_017636.3(TRPM4):c.291G>A (p.Thr97=) http://identifiers.org/clinvar/329895 ^@ NM_007254.3(PNKP):c.579-5C>T http://identifiers.org/clinvar/329945 ^@ NM_024729.3(MYH14):c.4650C>T (p.Ala1550=) http://identifiers.org/clinvar/330045 ^@ NM_144687.3(NLRP12):c.291T>C (p.Asp97=) http://identifiers.org/clinvar/340872 ^@ NM_004782.3(SNAP29):c.*2052A>T http://identifiers.org/clinvar/340922 ^@ NM_003073.4(SMARCB1):c.*293C>T http://identifiers.org/clinvar/341322 ^@ NM_012179.3(FBXO7):c.*263A>G http://identifiers.org/clinvar/341372 ^@ NM_000362.4(TIMP3):c.*1792A>G http://identifiers.org/clinvar/341472 ^@ NM_002473.5(MYH9):c.*686C>T http://identifiers.org/clinvar/341772 ^@ NM_001429.3(EP300):c.94+13A>G http://identifiers.org/clinvar/341822 ^@ NM_001429.3(EP300):c.6395A>T (p.Asn2132Ile) http://identifiers.org/clinvar/379786 ^@ NM_020987.4(ANK3):c.7664T>C (p.Met2555Thr) http://identifiers.org/clinvar/387213 ^@ NM_020822.2(KCNT1):c.1620-17C>T http://identifiers.org/clinvar/378986 ^@ NM_000051.3(ATM):c.5006-8A>G http://identifiers.org/clinvar/386813 ^@ NM_015645.4(C1QTNF5):c.495G>C (p.Gln165His) http://identifiers.org/clinvar/388702 ^@ NM_000501.3(ELN):c.145G>A (p.Gly49Arg) http://identifiers.org/clinvar/393101 ^@ NM_000722.3(CACNA2D1):c.2914G>A (p.Asp972Asn) http://identifiers.org/clinvar/379236 ^@ NM_000127.2(EXT1):c.1147G>T (p.Glu383Ter) http://identifiers.org/clinvar/387763 ^@ NM_000920.3(PC):c.634-4G>A http://identifiers.org/clinvar/387413 ^@ NM_000445.4(PLEC):c.6825G>A (p.Glu2275=) http://identifiers.org/clinvar/386863 ^@ NM_030962.3(SBF2):c.402+15G>A http://identifiers.org/clinvar/381779 ^@ NM_016204.3(GDF2):c.1017C>T (p.Ile339=) http://identifiers.org/clinvar/380929 ^@ NM_152415.2(VPS37A):c.316-17T>C http://identifiers.org/clinvar/381529 ^@ NM_000314.6(PTEN):c.164+1G>T http://identifiers.org/clinvar/380778 ^@ NM_004408.3(DNM1):c.312G>A (p.Glu104=) http://identifiers.org/clinvar/383272 ^@ NM_024740.2(ALG9):c.1149C>T (p.Gly383=) http://identifiers.org/clinvar/384524 ^@ NM_017841.2(SDHAF2):c.165G>A (p.Trp55Ter) http://identifiers.org/clinvar/381029 ^@ NM_000282.3(PCCA):c.415-9A>G http://identifiers.org/clinvar/386463 ^@ NM_020822.2(KCNT1):c.1725C>T (p.Tyr575=) http://identifiers.org/clinvar/389452 ^@ NM_006231.3(POLE):c.4444+18C>T http://identifiers.org/clinvar/389302 ^@ NM_006231.3(POLE):c.-32C>G http://identifiers.org/clinvar/379436 ^@ NM_032790.3(ORAI1):c.652A>G (p.Ser218Gly) http://identifiers.org/clinvar/378886 ^@ NM_000257.3(MYH7):c.438G>A (p.Lys146=) http://identifiers.org/clinvar/390002 ^@ NM_018838.4(NDUFA12):c.-44G>T http://identifiers.org/clinvar/385774 ^@ NM_000059.3(BRCA2):c.3717A>G (p.Lys1239=) http://identifiers.org/clinvar/386513 ^@ NM_001080463.1(DYNC2H1):c.11043+7T>A http://identifiers.org/clinvar/390152 ^@ NM_020778.4(ALPK3):c.1296T>C (p.Ala432=) http://identifiers.org/clinvar/378936 ^@ NM_001909.4(CTSD):c.68+10C>T http://identifiers.org/clinvar/390502 ^@ NM_002474.2(MYH11):c.-26T>A http://identifiers.org/clinvar/381179 ^@ NM_001013703.3(EIF2AK4):c.1667A>G (p.Glu556Gly) http://identifiers.org/clinvar/379186 ^@ NM_001018005.1(TPM1):c.240+4447G>C http://identifiers.org/clinvar/389502 ^@ NM_002693.2(POLG):c.1524C>T (p.Ala508=) http://identifiers.org/clinvar/381079 ^@ NM_004862.3(LITAF):c.45A>G (p.Ser15=) http://identifiers.org/clinvar/387713 ^@ NM_001127464.2(ZNF469):c.19C>T (p.Arg7Ter) http://identifiers.org/clinvar/378786 ^@ NM_000548.4(TSC2):c.3126G>A (p.Pro1042=) http://identifiers.org/clinvar/47928 ^@ NM_144612.6(LOXHD1):c.2473G>A (p.Val825Met) http://identifiers.org/clinvar/47978 ^@ NM_153676.3(USH1C):c.1731G>A (p.Pro577=) http://identifiers.org/clinvar/48030 ^@ NM_170707.3(LMNA):c.1112_1115dupTGGA (p.Glu372Aspfs) http://identifiers.org/clinvar/48080 ^@ NM_170707.3(LMNA):c.781_783delAAG (p.Lys261del) http://identifiers.org/clinvar/48130 ^@ NM_173477.4(USH1G):c.388A>G (p.Lys130Glu) http://identifiers.org/clinvar/48381 ^@ NM_206933.2(USH2A):c.11736G>A (p.Glu3912=) http://identifiers.org/clinvar/48431 ^@ NM_206933.2(USH2A):c.1419C>T (p.Thr473=) http://identifiers.org/clinvar/48481 ^@ NM_206933.2(USH2A):c.1966G>A (p.Asp656Asn) http://identifiers.org/clinvar/95 ^@ NM_004315.5(ASAH1):c.592C>G (p.Leu198Val) http://identifiers.org/clinvar/140 ^@ NM_033409.3(SLC52A3):c.211G>T (p.Glu71Ter) http://identifiers.org/clinvar/163 ^@ NM_000274.3(OAT):c.162C>A (p.Asn54Lys) http://identifiers.org/clinvar/177 ^@ NM_000274.3(OAT):c.1276C>T (p.Arg426Ter) http://identifiers.org/clinvar/227 ^@ NM_000027.3(AGA):c.807_940del134 http://identifiers.org/clinvar/323 ^@ NM_012338.3(TSPAN12):c.361-5_361-1delACCAG http://identifiers.org/clinvar/402 ^@ NM_000353.2(TAT):c.169C>T (p.Arg57Ter) http://identifiers.org/clinvar/434 ^@ DPYD, 4-BP DEL, 296TCAT http://identifiers.org/clinvar/524 ^@ FBN2, IVS30, G-T, -26 http://identifiers.org/clinvar/894 ^@ NM_000181.3(GUSB):c.1144C>T (p.Arg382Cys) http://identifiers.org/clinvar/903 ^@ NM_000181.3(GUSB):c.1391+618_1391+619delTC http://identifiers.org/clinvar/1169 ^@ NM_000505.3(F12):c.983C>A (p.Thr328Lys) http://identifiers.org/clinvar/1213 ^@ NM_015238.2(WWC1):c.1185-3222C>T http://identifiers.org/clinvar/1264 ^@ NM_194318.3(B3GLCT):c.660+1G>A http://identifiers.org/clinvar/1309 ^@ NM_001174089.1(SLC4A11):c.2557C>T (p.Arg853Cys) http://identifiers.org/clinvar/1354 ^@ CC2D1A, IVS13-16DEL http://identifiers.org/clinvar/1445 ^@ NM_000190.3(HMBS):c.346C>T (p.Arg116Trp) http://identifiers.org/clinvar/1490 ^@ NM_001039141.2(TRIOBP):c.1039C>T (p.Arg347Ter) http://identifiers.org/clinvar/1536 ^@ NM_000237.2(LPL):c.264T>A (p.Tyr88Ter) http://identifiers.org/clinvar/1581 ^@ NM_139281.2(WDR36):c.1064A>G (p.Asn355Ser) http://identifiers.org/clinvar/1676 ^@ MANBA, IVS7, A-G, +1 http://identifiers.org/clinvar/1720 ^@ NM_001130161.2(STOX1):c.1824A>C (p.Glu608Asp) http://identifiers.org/clinvar/1817 ^@ NM_018451.4(CENPJ):c.17delC (p.Ser7Leufs) http://identifiers.org/clinvar/1862 ^@ NM_001164730.1(REEP1):c.80C>A (p.Ala27Glu) http://identifiers.org/clinvar/1907 ^@ NM_000411.6(HLCS):c.710T>C (p.Leu237Pro) http://identifiers.org/clinvar/1952 ^@ NM_145200.3(CABP4):c.800_801delAG (p.Glu267Valfs) http://identifiers.org/clinvar/2224 ^@ NM_000551.3(VHL):c.496G>T (p.Val166Phe) http://identifiers.org/clinvar/2315 ^@ PYGM, IVS5AS, G-A, -601 http://identifiers.org/clinvar/2406 ^@ NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter) http://identifiers.org/clinvar/242815 ^@ NM_021098.2(CACNA1H):c.2318G>A (p.Gly773Asp) http://identifiers.org/clinvar/3185 ^@ DYM, 1-BP DEL http://identifiers.org/clinvar/3279 ^@ NM_024529.4(CDC73):c.238-1G>A http://identifiers.org/clinvar/3323 ^@ SALL4, 1-BP DEL, 2425G http://identifiers.org/clinvar/10168 ^@ NM_000132.3(F8):c.328A>G (p.Met110Val) http://identifiers.org/clinvar/10212 ^@ NM_000132.3(F8):c.1331A>G (p.Lys444Arg) http://identifiers.org/clinvar/10258 ^@ NM_000132.3(F8):c.4293_4297delCTCTT (p.His1434Serfs) http://identifiers.org/clinvar/10302 ^@ NM_000132.3(F8):c.6049delG (p.Val2017Trpfs) http://identifiers.org/clinvar/10348 ^@ F8, EX23-24DEL http://identifiers.org/clinvar/10845 ^@ NM_000054.4(AVPR2):c.253G>A (p.Asp85Asn) http://identifiers.org/clinvar/10890 ^@ NM_000284.3(PDHA1):c.863G>A (p.Arg288His) http://identifiers.org/clinvar/10936 ^@ NM_000397.3(CYBB):c.907C>A (p.His303Asn) http://identifiers.org/clinvar/10982 ^@ NM_005710.2(PQBP1):c.640dupC (p.Arg214Profs) http://identifiers.org/clinvar/11026 ^@ NM_198270.3(NHS):c.718dupG (p.Glu240Glyfs) http://identifiers.org/clinvar/11071 ^@ PHF6, IVS2AS, A-G, -8 http://identifiers.org/clinvar/11116 ^@ NM_000377.2(WAS):c.167C>T (p.Ala56Val) http://identifiers.org/clinvar/11162 ^@ NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) http://identifiers.org/clinvar/11207 ^@ NM_004006.2(DMD):c.3469G>T (p.Glu1157Ter) http://identifiers.org/clinvar/11252 ^@ DMD, 52-BP DEL http://identifiers.org/clinvar/11298 ^@ NM_000033.3(ABCD1):c.520T>G (p.Tyr174Asp) http://identifiers.org/clinvar/11343 ^@ NM_000061.2(BTK):c.1288A>G (p.Lys430Glu) http://identifiers.org/clinvar/11389 ^@ NM_000061.2(BTK):c.1889T>A (p.Met630Lys) http://identifiers.org/clinvar/12155 ^@ NM_000500.7(CYP21A2):c.293-13C>G http://identifiers.org/clinvar/12210 ^@ AVP, 1-BP DEL, 227G http://identifiers.org/clinvar/12261 ^@ NM_003361.3(UMOD):c.764G>A (p.Cys255Tyr) http://identifiers.org/clinvar/12313 ^@ NM_001014796.1(DDR2):c.2254C>T (p.Arg752Cys) http://identifiers.org/clinvar/12364 ^@ NM_000546.5(TP53):c.844C>T (p.Arg282Trp) http://identifiers.org/clinvar/12415 ^@ NM_001001430.2(TNNT2):c.391C>T (p.Arg131Trp) http://identifiers.org/clinvar/12466 ^@ NM_003289.3(TPM2):c.145_147delAAG (p.Lys49del) http://identifiers.org/clinvar/12516 ^@ NM_001024847.2(TGFBR2):c.1472-2A>G http://identifiers.org/clinvar/12566 ^@ NM_001128177.1(THRB):c.728G>A (p.Arg243Gln) http://identifiers.org/clinvar/12617 ^@ NM_001063.3(TF):c.1765C>T (p.Pro589Ser) http://identifiers.org/clinvar/12667 ^@ PRKAR1A, 2-BP DEL, 845TC http://identifiers.org/clinvar/12718 ^@ NM_000361.2(THBD):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/12769 ^@ SURF1, 4-BP INS, 572CCCT http://identifiers.org/clinvar/12819 ^@ SOX2, DEL http://identifiers.org/clinvar/12870 ^@ NM_005633.3(SOS1):c.806T>G (p.Met269Arg) http://identifiers.org/clinvar/12920 ^@ NM_000702.3(ATP1A2):c.2066G>A (p.Arg689Gln) http://identifiers.org/clinvar/12970 ^@ NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) http://identifiers.org/clinvar/13021 ^@ NM_000539.3(RHO):c.266G>A (p.Gly89Asp) http://identifiers.org/clinvar/13072 ^@ NM_000321.2(RB1):c.1700C>T (p.Ser567Leu) http://identifiers.org/clinvar/13123 ^@ NM_000537.3(REN):c.145C>T (p.Arg49Ter) http://identifiers.org/clinvar/13174 ^@ NM_000322.4(PRPH2):c.418_421dupTACT (p.Tyr141Leufs) http://identifiers.org/clinvar/13225 ^@ BCHE, ALU INS, EX2 http://identifiers.org/clinvar/13276 ^@ NM_000141.4(FGFR2):c.866A>C (p.Gln289Pro) http://identifiers.org/clinvar/13327 ^@ NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) http://identifiers.org/clinvar/13377 ^@ NM_001185097.1(INS):c.147C>G (p.Phe49Leu) http://identifiers.org/clinvar/39359 ^@ NM_000311.4(PRNP):c.532G>A (p.Asp178Asn) http://identifiers.org/clinvar/13431 ^@ TTR, ALA109THR http://identifiers.org/clinvar/36656 ^@ NM_004387.3(NKX2-5):c.237G>A (p.Pro79=) http://identifiers.org/clinvar/36709 ^@ NM_002834.4(PTPN11):c.526-8C>A http://identifiers.org/clinvar/36762 ^@ NM_198056.2(SCN5A):c.4437+13C>T http://identifiers.org/clinvar/36812 ^@ NM_000545.6(HNF1A):c.1768+64dupC http://identifiers.org/clinvar/36862 ^@ NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) http://identifiers.org/clinvar/36913 ^@ NM_000377.2(WAS):c.763dupC (p.Gln255Profs) http://identifiers.org/clinvar/37008 ^@ CAMTA1, 49-KB DEL, EX2-3 http://identifiers.org/clinvar/37089 ^@ NM_006070.5(TFG):c.854C>T (p.Pro285Leu) http://identifiers.org/clinvar/37204 ^@ GRM1, 3-BP DEL, NT2652 AND IVS8DS, T-G, +2 http://identifiers.org/clinvar/37303 ^@ MERTK, IVS1, G-A, +1 http://identifiers.org/clinvar/37387 ^@ NM_007294.3(BRCA1):c.1018delG (p.Val340Terfs) http://identifiers.org/clinvar/37439 ^@ NM_007294.3(BRCA1):c.1972delA (p.Met658Cysfs) http://identifiers.org/clinvar/37490 ^@ NM_007294.3(BRCA1):c.2798G>A (p.Gly933Asp) http://identifiers.org/clinvar/37548 ^@ NM_007294.3(BRCA1):c.3782T>C (p.Leu1261Ser) http://identifiers.org/clinvar/37601 ^@ NM_007294.3(BRCA1):c.4638T>G (p.Asp1546Glu) http://identifiers.org/clinvar/37656 ^@ NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) http://identifiers.org/clinvar/38025 ^@ NM_000059.3(BRCA2):c.6199T>A (p.Ser2067Thr) http://identifiers.org/clinvar/38079 ^@ NM_000059.3(BRCA2):c.700delT (p.Ser234Profs) http://identifiers.org/clinvar/50894 ^@ NM_024312.4(GNPTAB):c.3388_3389insC (p.Val1130Alafs) http://identifiers.org/clinvar/39467 ^@ EXPH5, 1-BP DEL, 5786C http://identifiers.org/clinvar/39518 ^@ NM_012082.3(ZFPM2):c.1632G>A (p.Met544Ile) http://identifiers.org/clinvar/39568 ^@ CLCF1, 676T-C http://identifiers.org/clinvar/39620 ^@ NM_012208.3(HARS2):c.598C>G (p.Leu200Val) http://identifiers.org/clinvar/39670 ^@ NM_000314.6(PTEN):c.405dupA (p.Cys136Metfs) http://identifiers.org/clinvar/39722 ^@ NM_178012.4(TUBB2B):c.350T>C (p.Leu117Pro) http://identifiers.org/clinvar/39773 ^@ NM_001382.3(DPAGT1):c.206T>A (p.Ile69Asn) http://identifiers.org/clinvar/39824 ^@ NM_006567.4(FARS2):c.431A>G (p.Tyr144Cys) http://identifiers.org/clinvar/39967 ^@ NM_001142339.2(GNAL):c.409G>A (p.Val137Met) http://identifiers.org/clinvar/40067 ^@ KLF1, TYR197TER http://identifiers.org/clinvar/40216 ^@ NM_001131005.2(MEF2C):c.80G>C (p.Gly27Ala) http://identifiers.org/clinvar/40354 ^@ NM_004333.4(BRAF):c.980+27G>A http://identifiers.org/clinvar/40424 ^@ NM_005188.3(CBL):c.2484G>A (p.Pro828=) http://identifiers.org/clinvar/40493 ^@ NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) http://identifiers.org/clinvar/40551 ^@ NM_002834.4(PTPN11):c.1472C>A (p.Pro491His) http://identifiers.org/clinvar/40611 ^@ NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) http://identifiers.org/clinvar/40685 ^@ NM_005633.3(SOS1):c.1668A>C (p.Val556=) http://identifiers.org/clinvar/40778 ^@ NM_002755.3(MAP2K1):c.156C>T (p.Ala52=) http://identifiers.org/clinvar/40978 ^@ NM_000032.4(ALAS2):c.1757A>T (p.Tyr586Phe) http://identifiers.org/clinvar/41034 ^@ NM_000748.2(CHRNB2):c.901C>G (p.Leu301Val) http://identifiers.org/clinvar/41091 ^@ NM_003611.2(OFD1):c.2056delT (p.Ser686Profs) http://identifiers.org/clinvar/41148 ^@ NM_003611.2(OFD1):c.837_841delAAAAG (p.Lys280Asnfs) http://identifiers.org/clinvar/41199 ^@ NM_003977.3(AIP):c.715C>T (p.Gln239Ter) http://identifiers.org/clinvar/51159 ^@ NM_000059.3(BRCA2):c.1630A>G (p.Thr544Ala) http://identifiers.org/clinvar/51210 ^@ NM_000059.3(BRCA2):c.1826A>G (p.Gln609Arg) http://identifiers.org/clinvar/51262 ^@ NM_000059.3(BRCA2):c.2260C>A (p.Gln754Lys) http://identifiers.org/clinvar/51313 ^@ NM_000059.3(BRCA2):c.2603delC (p.Thr868Ilefs) http://identifiers.org/clinvar/51363 ^@ NM_000059.3(BRCA2):c.2870delA (p.Asn957Ilefs) http://identifiers.org/clinvar/51413 ^@ NM_000059.3(BRCA2):c.3167_3170delAAAA (p.Gln1056Argfs) http://identifiers.org/clinvar/51465 ^@ NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) http://identifiers.org/clinvar/51516 ^@ NM_000059.3(BRCA2):c.3751dupA (p.Thr1251Asnfs) http://identifiers.org/clinvar/51567 ^@ NM_000059.3(BRCA2):c.3938A>C (p.Tyr1313Ser) http://identifiers.org/clinvar/51618 ^@ NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) http://identifiers.org/clinvar/51670 ^@ NM_000059.3(BRCA2):c.4552G>T (p.Glu1518Ter) http://identifiers.org/clinvar/51722 ^@ NM_000059.3(BRCA2):c.4830G>A (p.Val1610=) http://identifiers.org/clinvar/51773 ^@ NM_000059.3(BRCA2):c.5116_5119delAATA (p.Asn1706Leufs) http://identifiers.org/clinvar/51824 ^@ NM_000059.3(BRCA2):c.5218_5223delTTAAGT (p.Leu1740_Ser1741del) http://identifiers.org/clinvar/51878 ^@ NM_000059.3(BRCA2):c.5542delA (p.Ser1848Valfs) http://identifiers.org/clinvar/51930 ^@ NM_000059.3(BRCA2):c.575T>C (p.Met192Thr) http://identifiers.org/clinvar/51981 ^@ NM_000059.3(BRCA2):c.5984dupA (p.Asn1995Lysfs) http://identifiers.org/clinvar/52032 ^@ NM_000059.3(BRCA2):c.6209_6212delAAAG (p.Glu2070Valfs) http://identifiers.org/clinvar/52085 ^@ NM_000059.3(BRCA2):c.6407_6411delTAAAT (p.Leu2136Cysfs) http://identifiers.org/clinvar/52632 ^@ NM_000059.3(BRCA2):c.8599A>C (p.Thr2867Pro) http://identifiers.org/clinvar/52683 ^@ NM_000059.3(BRCA2):c.880G>T (p.Glu294Ter) http://identifiers.org/clinvar/52733 ^@ NM_000059.3(BRCA2):c.9041C>A (p.Ser3014Ter) http://identifiers.org/clinvar/52784 ^@ NM_000059.3(BRCA2):c.9249A>T (p.Lys3083Asn) http://identifiers.org/clinvar/52836 ^@ NM_000059.3(BRCA2):c.9430delT (p.Ser3144Leufs) http://identifiers.org/clinvar/52886 ^@ NM_000059.3(BRCA2):c.9649-8T>C http://identifiers.org/clinvar/52936 ^@ NM_000218.2(KCNQ1):c.1031C>T (p.Ala344Val) http://identifiers.org/clinvar/52986 ^@ NM_000218.2(KCNQ1):c.1514+1G>A http://identifiers.org/clinvar/53036 ^@ NM_000218.2(KCNQ1):c.341T>C (p.Leu114Pro) http://identifiers.org/clinvar/53086 ^@ NM_000218.2(KCNQ1):c.691C>T (p.Arg231Cys) http://identifiers.org/clinvar/53137 ^@ NM_000218.2(KCNQ1):c.940G>T (p.Gly314Cys) http://identifiers.org/clinvar/56140 ^@ NM_000274.3(OAT):c.978T>A (p.Asn326Lys) http://identifiers.org/clinvar/56191 ^@ NM_000310.3(PPT1):c.363-3T>G http://identifiers.org/clinvar/56496 ^@ NM_004646.3(NPHS1):c.3250delG (p.Val1084Serfs) http://identifiers.org/clinvar/56547 ^@ NM_006493.2(CLN5):c.955_970del16 (p.Gly319Phefs) http://identifiers.org/clinvar/56600 ^@ NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) http://identifiers.org/clinvar/56655 ^@ NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) http://identifiers.org/clinvar/56705 ^@ NM_018941.3(CLN8):c.227A>G (p.Gln76Arg) http://identifiers.org/clinvar/56755 ^@ NM_030943.3(AMN):c.514-34G>A http://identifiers.org/clinvar/56832 ^@ NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) http://identifiers.org/clinvar/57015 ^@ GRCh38/hg38 16p13.3(chr16:6735606-6996218)x1 http://identifiers.org/clinvar/57068 ^@ GRCh38/hg38 Xq21.1(chrX:77784830-78691660)x2 http://identifiers.org/clinvar/57124 ^@ GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3 http://identifiers.org/clinvar/57175 ^@ GRCh37/hg19 Yq11.21-12(chrY:14698756-59031480)x0 http://identifiers.org/clinvar/57227 ^@ GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 http://identifiers.org/clinvar/57280 ^@ GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1 http://identifiers.org/clinvar/57333 ^@ GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1 http://identifiers.org/clinvar/57386 ^@ GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 http://identifiers.org/clinvar/101153 ^@ NM_000090.3(COL3A1):c.2337G>A (p.Lys779=) http://identifiers.org/clinvar/101203 ^@ NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu) http://identifiers.org/clinvar/101253 ^@ NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp) http://identifiers.org/clinvar/101303 ^@ NM_000090.3(COL3A1):c.2681G>C (p.Gly894Ala) http://identifiers.org/clinvar/101353 ^@ NM_000090.3(COL3A1):c.615_629dupACCTGGGCAAGCTGG (p.Pro211_Ser212insGlyGlnAlaGlyPro) http://identifiers.org/clinvar/101403 ^@ NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp) http://identifiers.org/clinvar/101453 ^@ NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu) http://identifiers.org/clinvar/101505 ^@ NM_173812.4(DPY19L2):c.2038A>T (p.Lys680Ter) http://identifiers.org/clinvar/102466 ^@ NM_000277.1(PAH):c.1007A>G (p.Gln336Arg) http://identifiers.org/clinvar/102518 ^@ NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) http://identifiers.org/clinvar/102574 ^@ NM_000277.1(PAH):c.1232C>A (p.Ser411Ter) http://identifiers.org/clinvar/102626 ^@ NM_000277.1(PAH):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/102681 ^@ NM_000277.1(PAH):c.442_509del68 (p.Gly148Trpfs) http://identifiers.org/clinvar/102731 ^@ NM_000277.1(PAH):c.545A>G (p.Glu182Gly) http://identifiers.org/clinvar/102782 ^@ NM_000277.1(PAH):c.676C>T (p.Gln226Ter) http://identifiers.org/clinvar/102832 ^@ NM_000277.1(PAH):c.782G>C (p.Arg261Pro) http://identifiers.org/clinvar/102884 ^@ NM_000277.1(PAH):c.884C>G (p.Ser295Ter) http://identifiers.org/clinvar/102942 ^@ NM_006092.2(NOD1):c.-665G>A http://identifiers.org/clinvar/125636 ^@ NM_007294.3(BRCA1):c.3548_3549delAA (p.Lys1183Argfs) http://identifiers.org/clinvar/125706 ^@ NM_007294.3(BRCA1):c.4338_4339ins4 http://identifiers.org/clinvar/125768 ^@ NM_007294.3(BRCA1):c.5152+1G>A http://identifiers.org/clinvar/125845 ^@ NM_007294.3(BRCA1):c.5407-1G>A http://identifiers.org/clinvar/125902 ^@ NM_007294.3(BRCA1):c.670+7G>A http://identifiers.org/clinvar/125970 ^@ NM_000059.3(BRCA2):c.1854_1855insA (p.Gln619Thrfs) http://identifiers.org/clinvar/126163 ^@ NM_000059.3(BRCA2):c.7977-1G>T http://identifiers.org/clinvar/126230 ^@ NM_001080522.2(CC2D2A):c.1764+45T>G http://identifiers.org/clinvar/126280 ^@ NM_015272.4(RPGRIP1L):c.3936C>T (p.Asp1312=) http://identifiers.org/clinvar/126331 ^@ NM_020732.3(ARID1B):c.4102C>T (p.Gln1368Ter) http://identifiers.org/clinvar/126387 ^@ NM_016381.5(TREX1):c.558_573dup16 (p.Glu192Profs) http://identifiers.org/clinvar/126455 ^@ NM_004299.4(ABCB7):c.627A>T (p.Glu209Asp) http://identifiers.org/clinvar/126517 ^@ NM_005228.4(EGFR):c.2471G>A (p.Gly824Asp) http://identifiers.org/clinvar/126592 ^@ NM_024675.3(PALB2):c.1194G>A (p.Val398=) http://identifiers.org/clinvar/126643 ^@ NM_024675.3(PALB2):c.2275C>A (p.Gln759Lys) http://identifiers.org/clinvar/126694 ^@ NM_024675.3(PALB2):c.2869A>C (p.Lys957Gln) http://identifiers.org/clinvar/126744 ^@ NM_024675.3(PALB2):c.3483T>C (p.Phe1161=) http://identifiers.org/clinvar/126795 ^@ NM_000321.2(RB1):c.2107-1G>C http://identifiers.org/clinvar/126846 ^@ NM_006172.3(NPPA):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/126905 ^@ NM_015884.3(MBTPS2):c.1391T>C (p.Phe464Ser) http://identifiers.org/clinvar/126955 ^@ NM_000428.2(LTBP2):c.4250A>G (p.Gln1417Arg) http://identifiers.org/clinvar/127005 ^@ NM_005732.3(RAD50):c.3618+90C>T http://identifiers.org/clinvar/127055 ^@ NM_134424.3(RAD52):c.467+86A>G http://identifiers.org/clinvar/127112 ^@ NM_000372.4(TYR):c.-9_-7delAGAinsGG http://identifiers.org/clinvar/127193 ^@ NM_021120.3(DLG3):c.357+1G>C http://identifiers.org/clinvar/127279 ^@ NM_000038.5(APC):c.1912A>T (p.Ile638Leu) http://identifiers.org/clinvar/127329 ^@ NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) http://identifiers.org/clinvar/127379 ^@ NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) http://identifiers.org/clinvar/127480 ^@ NM_000057.3(BLM):c.1928G>A (p.Arg643His) http://identifiers.org/clinvar/127530 ^@ NM_000136.2(FANCC):c.1009C>T (p.Leu337Phe) http://identifiers.org/clinvar/127580 ^@ NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter) http://identifiers.org/clinvar/127631 ^@ NM_000251.2(MSH2):c.1582A>C (p.Lys528Gln) http://identifiers.org/clinvar/127690 ^@ NM_000314.4(PTEN):c.210-7delCTTTT http://identifiers.org/clinvar/127740 ^@ NM_000465.3(BARD1):c.54C>G (p.Asn18Lys) http://identifiers.org/clinvar/127791 ^@ NM_000535.6(PMS2):c.475G>A (p.Val159Met) http://identifiers.org/clinvar/162578 ^@ NM_000426.3(LAMA2):c.7250A>G (p.His2417Arg) http://identifiers.org/clinvar/179025 ^@ NM_002524.4(NRAS):c.553C>T (p.Pro185Ser) http://identifiers.org/clinvar/166410 ^@ NM_206933.2(USH2A):c.*4A>G http://identifiers.org/clinvar/165715 ^@ NM_133379.4(TTN):c.*265+198852C>T http://identifiers.org/clinvar/179375 ^@ NM_001267550.2(TTN):c.49296_49315del20 (p.Val16433Leufs) http://identifiers.org/clinvar/178656 ^@ NC_000001.11:g.(?_216292175)_(216327654_?)del http://identifiers.org/clinvar/179075 ^@ NM_206933.2(USH2A):c.11145T>A (p.Tyr3715Ter) http://identifiers.org/clinvar/179225 ^@ NM_206933.2(USH2A):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/166526 ^@ NM_206933.2(USH2A):c.1582G>A (p.Asp528Asn) http://identifiers.org/clinvar/165870 ^@ NM_001256850.1(TTN):c.63494C>T (p.Thr21165Ile) http://identifiers.org/clinvar/178875 ^@ NM_133378.4(TTN):c.59833T>C (p.Leu19945=) http://identifiers.org/clinvar/165962 ^@ NM_001256850.1(TTN):c.50992G>A (p.Val16998Met) http://identifiers.org/clinvar/178156 ^@ NM_133378.4(TTN):c.94816G>A (p.Val31606Ile) http://identifiers.org/clinvar/179275 ^@ NM_001267550.2(TTN):c.81005_81028del24 (p.Gly27002_Ile27009del) http://identifiers.org/clinvar/166029 ^@ NM_133378.4(TTN):c.39507A>C (p.Arg13169Ser) http://identifiers.org/clinvar/179175 ^@ NM_133379.4(TTN):c.14911A>G (p.Ile4971Val) http://identifiers.org/clinvar/166268 ^@ NM_133379.4(TTN):c.12724A>G (p.Ser4242Gly) http://identifiers.org/clinvar/166187 ^@ NM_133378.4(TTN):c.16635G>A (p.Pro5545=) http://identifiers.org/clinvar/166318 ^@ NM_001256850.1(TTN):c.4671G>A (p.Met1557Ile) http://identifiers.org/clinvar/163136 ^@ NM_001369.2(DNAH5):c.10473G>A (p.Thr3491=) http://identifiers.org/clinvar/178606 ^@ NM_005219.4(DIAPH1):c.3765G>A (p.Glu1255=) http://identifiers.org/clinvar/179475 ^@ NM_178335.2(CCDC50):c.1221A>C (p.Arg407Ser) http://identifiers.org/clinvar/162828 ^@ NM_033337.2(CAV3):c.168C>T (p.Gly56=) http://identifiers.org/clinvar/166606 ^@ NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) http://identifiers.org/clinvar/178774 ^@ NM_000118.3(ENG):c.14C>T (p.Thr5Met) http://identifiers.org/clinvar/178724 ^@ NM_001277115.1(DNAH11):c.1702G>A (p.Ala568Thr) http://identifiers.org/clinvar/198516 ^@ NM_004595.4(SMS):c.699G>A (p.Met233Ile) http://identifiers.org/clinvar/198567 ^@ NM_001129765.1(NSDHL):c.773C>T (p.Ser258Leu) http://identifiers.org/clinvar/198619 ^@ NM_152778.2(MFSD8):c.590G>A (p.Gly197Asp) http://identifiers.org/clinvar/198670 ^@ NM_031407.6(HUWE1):c.11996+9C>T http://identifiers.org/clinvar/198723 ^@ NM_000382.2(ALDH3A2):c.1108-3C>T http://identifiers.org/clinvar/200931 ^@ NM_170707.3(LMNA):c.335A>T (p.Glu112Val) http://identifiers.org/clinvar/201236 ^@ NM_001035.2(RYR2):c.3164G>A (p.Arg1055His) http://identifiers.org/clinvar/201290 ^@ NM_001035.2(RYR2):c.9085A>G (p.Ile3029Val) http://identifiers.org/clinvar/201348 ^@ NM_001035.2(RYR2):c.10897G>A (p.Glu3633Lys) http://identifiers.org/clinvar/201181 ^@ NM_001035.2(RYR2):c.11476+10A>C http://identifiers.org/clinvar/201405 ^@ NM_001035.2(RYR2):c.14885A>G (p.Tyr4962Cys) http://identifiers.org/clinvar/201571 ^@ NM_198056.2(SCN5A):c.4519_4527delCAGAAGCCC (p.Gln1507_Pro1509del) http://identifiers.org/clinvar/201514 ^@ NM_198056.2(SCN5A):c.4403T>C (p.Val1468Ala) http://identifiers.org/clinvar/201459 ^@ NM_198056.2(SCN5A):c.1706G>A (p.Arg569Gln) http://identifiers.org/clinvar/200707 ^@ NM_000238.3(KCNH2):c.3112_3129del18insCA (p.Val1038Glnfs) http://identifiers.org/clinvar/200453 ^@ NM_000238.3(KCNH2):c.2417G>C (p.Gly806Ala) http://identifiers.org/clinvar/200602 ^@ NM_000238.3(KCNH2):c.565_568delGGCG (p.Gly189Profs) http://identifiers.org/clinvar/200290 ^@ NM_000238.3(KCNH2):c.515C>T (p.Ala172Val) http://identifiers.org/clinvar/200870 ^@ NM_000218.2(KCNQ1):c.551dupA (p.Tyr184Terfs) http://identifiers.org/clinvar/200817 ^@ NM_000218.2(KCNQ1):c.589C>T (p.Pro197Ser) http://identifiers.org/clinvar/201000 ^@ NM_130799.2(MEN1):c.1341delT (p.Phe447Leufs) http://identifiers.org/clinvar/200135 ^@ NM_000138.4(FBN1):c.8480A>C (p.Tyr2827Ser) http://identifiers.org/clinvar/200076 ^@ NM_000138.4(FBN1):c.6169C>T (p.Arg2057Ter) http://identifiers.org/clinvar/200189 ^@ NM_000138.4(FBN1):c.5726T>C (p.Ile1909Thr) http://identifiers.org/clinvar/200021 ^@ NM_000138.4(FBN1):c.3614A>G (p.Asn1205Ser) http://identifiers.org/clinvar/201114 ^@ NM_002474.2(MYH11):c.4561G>A (p.Asp1521Asn) http://identifiers.org/clinvar/201061 ^@ NM_002474.2(MYH11):c.3291C>T (p.Ala1097=) http://identifiers.org/clinvar/201631 ^@ NM_001103.3(ACTN2):c.700A>C (p.Ile234Leu) http://identifiers.org/clinvar/201687 ^@ NM_004281.3(BAG3):c.743A>G (p.His248Arg) http://identifiers.org/clinvar/201797 ^@ NM_020433.4(JPH2):c.637C>T (p.Arg213Trp) http://identifiers.org/clinvar/201741 ^@ NM_004006.2(DMD):c.8974G>A (p.Val2992Met) http://identifiers.org/clinvar/231400 ^@ NM_000038.5(APC):c.7529A>G (p.Asn2510Ser) http://identifiers.org/clinvar/231800 ^@ NM_005732.3(RAD50):c.1006T>A (p.Ser336Thr) http://identifiers.org/clinvar/231300 ^@ NM_005732.3(RAD50):c.1153C>T (p.Arg385Cys) http://identifiers.org/clinvar/233893 ^@ NM_005732.3(RAD50):c.2003A>T (p.Gln668Leu) http://identifiers.org/clinvar/232901 ^@ NM_000535.6(PMS2):c.1465G>A (p.Glu489Lys) http://identifiers.org/clinvar/232200 ^@ NM_002485.4(NBN):c.1160C>G (p.Ser387Cys) http://identifiers.org/clinvar/232050 ^@ NM_002485.4(NBN):c.995-2A>G http://identifiers.org/clinvar/231700 ^@ NM_000077.4(CDKN2A):c.443C>T (p.Ala148Val) http://identifiers.org/clinvar/232801 ^@ NM_000051.3(ATM):c.239C>T (p.Pro80Leu) http://identifiers.org/clinvar/231850 ^@ NM_000051.3(ATM):c.2284C>T (p.Leu762=) http://identifiers.org/clinvar/230111 ^@ NM_000051.3(ATM):c.6725delC (p.Ser2242Tyrfs) http://identifiers.org/clinvar/232450 ^@ NM_005591.3(MRE11):c.1656A>G (p.Glu552=) http://identifiers.org/clinvar/231900 ^@ NM_000059.3(BRCA2):c.785C>T (p.Ala262Val) http://identifiers.org/clinvar/229961 ^@ NM_000059.3(BRCA2):c.2197G>A (p.Val733Ile) http://identifiers.org/clinvar/233843 ^@ NM_000059.3(BRCA2):c.3737A>T (p.Asn1246Ile) http://identifiers.org/clinvar/232601 ^@ NM_000059.3(BRCA2):c.3885A>G (p.Gln1295=) http://identifiers.org/clinvar/230161 ^@ NM_000059.3(BRCA2):c.6729T>A (p.Ser2243=) http://identifiers.org/clinvar/230411 ^@ NM_000059.3(BRCA2):c.6842-1G>T http://identifiers.org/clinvar/229661 ^@ NM_000059.3(BRCA2):c.7251C>T (p.His2417=) http://identifiers.org/clinvar/230261 ^@ NM_000059.3(BRCA2):c.8514A>G (p.Leu2838=) http://identifiers.org/clinvar/232150 ^@ NM_024675.3(PALB2):c.3232T>A (p.Cys1078Ser) http://identifiers.org/clinvar/232100 ^@ NM_024675.3(PALB2):c.3041T>C (p.Leu1014Pro) http://identifiers.org/clinvar/232550 ^@ NM_024675.3(PALB2):c.1982C>G (p.Pro661Arg) http://identifiers.org/clinvar/231950 ^@ NM_004360.4(CDH1):c.2521G>A (p.Glu841Lys) http://identifiers.org/clinvar/229911 ^@ NM_001042492.2(NF1):c.6360T>C (p.Ala2120=) http://identifiers.org/clinvar/231350 ^@ NM_001042492.2(NF1):c.7981T>C (p.Leu2661=) http://identifiers.org/clinvar/230011 ^@ NM_002878.3(RAD51D):c.239C>T (p.Ala80Val) http://identifiers.org/clinvar/231650 ^@ NM_002878.3(RAD51D):c.7G>A (p.Val3Met) http://identifiers.org/clinvar/233101 ^@ NM_007294.3(BRCA1):c.3289dupA (p.Ser1097Lysfs) http://identifiers.org/clinvar/232500 ^@ NM_007294.3(BRCA1):c.3243T>C (p.Asn1081=) http://identifiers.org/clinvar/233993 ^@ NM_007294.3(BRCA1):c.1944A>G (p.Glu648=) http://identifiers.org/clinvar/231250 ^@ NM_007294.3(BRCA1):c.1878A>G (p.Val626=) http://identifiers.org/clinvar/232651 ^@ NM_007294.3(BRCA1):c.1710A>G (p.Pro570=) http://identifiers.org/clinvar/230061 ^@ NM_007294.3(BRCA1):c.132C>T (p.Cys44=) http://identifiers.org/clinvar/233792 ^@ NM_058216.2(RAD51C):c.386T>C (p.Val129Ala) http://identifiers.org/clinvar/231450 ^@ NM_058216.2(RAD51C):c.1005C>A (p.Cys335Ter) http://identifiers.org/clinvar/229811 ^@ NM_032043.2(BRIP1):c.1942G>A (p.Val648Ile) http://identifiers.org/clinvar/232300 ^@ NM_032043.2(BRIP1):c.1754C>A (p.Ala585Glu) http://identifiers.org/clinvar/229761 ^@ NM_032043.2(BRIP1):c.590C>A (p.Ser197Tyr) http://identifiers.org/clinvar/233051 ^@ NM_000546.5(TP53):c.993+4delC http://identifiers.org/clinvar/232751 ^@ NM_005359.5(SMAD4):c.736C>A (p.Pro246Thr) http://identifiers.org/clinvar/231600 ^@ NM_000455.4(STK11):c.599C>A (p.Ala200Glu) http://identifiers.org/clinvar/231750 ^@ NM_007194.3(CHEK2):c.1386T>C (p.Leu462=) http://identifiers.org/clinvar/229861 ^@ NM_007194.3(CHEK2):c.910A>T (p.Met304Leu) http://identifiers.org/clinvar/238296 ^@ NM_001103.3(ACTN2):c.1193G>A (p.Arg398His) http://identifiers.org/clinvar/241040 ^@ NM_015284.3(SZT2):c.9799-7C>G http://identifiers.org/clinvar/238346 ^@ NM_001128425.1(MUTYH):c.465G>A (p.Lys155=) http://identifiers.org/clinvar/238196 ^@ NM_000969.3(RPL5):c.165G>A (p.Val55=) http://identifiers.org/clinvar/238696 ^@ NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) http://identifiers.org/clinvar/238846 ^@ NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) http://identifiers.org/clinvar/238796 ^@ NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val) http://identifiers.org/clinvar/238746 ^@ NM_001267550.2(TTN):c.33966G>A (p.Pro11322=) http://identifiers.org/clinvar/237746 ^@ NM_000384.2(APOB):c.3617T>C (p.Met1206Thr) http://identifiers.org/clinvar/237846 ^@ NM_000465.3(BARD1):c.93C>G (p.Arg31=) http://identifiers.org/clinvar/237395 ^@ NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) http://identifiers.org/clinvar/240990 ^@ NM_015120.4(ALMS1):c.2664A>G (p.Val888=) http://identifiers.org/clinvar/237446 ^@ NM_000258.2(MYL3):c.301C>G (p.Gln101Glu) http://identifiers.org/clinvar/240089 ^@ NM_005051.2(QARS):c.117+4C>T http://identifiers.org/clinvar/238596 ^@ NM_001148.4(ANK2):c.9598C>T (p.Leu3200Phe) http://identifiers.org/clinvar/240340 ^@ NM_006206.4(PDGFRA):c.3003G>A (p.Lys1001=) http://identifiers.org/clinvar/240840 ^@ NM_012073.4(CCT5):c.437A>T (p.Glu146Val) http://identifiers.org/clinvar/242229 ^@ NM_198253.2(TERT):c.2769G>A (p.Pro923=) http://identifiers.org/clinvar/240240 ^@ NM_005732.3(RAD50):c.3697C>A (p.Pro1233Thr) http://identifiers.org/clinvar/238646 ^@ NM_001206927.1(DNAH8):c.4265G>A (p.Arg1422His) http://identifiers.org/clinvar/241090 ^@ NM_016203.3(PRKAG2):c.1051+10A>G http://identifiers.org/clinvar/238896 ^@ NM_001277115.1(DNAH11):c.12997C>T (p.Pro4333Ser) http://identifiers.org/clinvar/240940 ^@ NM_014855.2(AP5Z1):c.2361G>A (p.Leu787=) http://identifiers.org/clinvar/237896 ^@ NM_000535.6(PMS2):c.1952A>G (p.Lys651Arg) http://identifiers.org/clinvar/262778 ^@ NM_153717.2(EVC):c.2894+18A>G http://identifiers.org/clinvar/257999 ^@ NM_001369.2(DNAH5):c.13338+16C>T http://identifiers.org/clinvar/258049 ^@ NM_001369.2(DNAH5):c.573C>T (p.Asp191=) http://identifiers.org/clinvar/256310 ^@ NM_000505.3(F12):c.619G>C (p.Ala207Pro) http://identifiers.org/clinvar/263028 ^@ NM_182925.4(FLT4):c.1480A>G (p.Thr494Ala) http://identifiers.org/clinvar/259249 ^@ NM_004168.3(SDHA):c.896-20A>G http://identifiers.org/clinvar/256360 ^@ NM_000521.3(HEXB):c.558+45G>A http://identifiers.org/clinvar/256260 ^@ NM_000493.3(COL10A1):c.1633G>C (p.Gly545Arg) http://identifiers.org/clinvar/256060 ^@ NM_000426.3(LAMA2):c.2749+34T>C http://identifiers.org/clinvar/260839 ^@ NM_017651.4(AHI1):c.1780-14C>T http://identifiers.org/clinvar/261139 ^@ NM_019105.6(TNXB):c.4848G>A (p.Gly1616=) http://identifiers.org/clinvar/260439 ^@ NM_014780.4(CUL7):c.3432G>A (p.Thr1144=) http://identifiers.org/clinvar/258349 ^@ NM_001851.4(COL9A1):c.167-11C>T http://identifiers.org/clinvar/259349 ^@ NM_004370.5(COL12A1):c.8237T>C (p.Val2746Ala) http://identifiers.org/clinvar/258149 ^@ NM_001458.4(FLNC):c.5669-12C>T http://identifiers.org/clinvar/258799 ^@ NM_002769.4(PRSS1):c.444G>A (p.Ala148=) http://identifiers.org/clinvar/257899 ^@ NM_001277115.1(DNAH11):c.4620G>A (p.Gln1540=) http://identifiers.org/clinvar/257849 ^@ NM_001277115.1(DNAH11):c.11059A>G (p.Lys3687Glu) http://identifiers.org/clinvar/263128 ^@ NM_198428.2(BBS9):c.270C>T (p.Thr90=) http://identifiers.org/clinvar/260939 ^@ NM_017802.3(DNAAF5):c.906-4T>G http://identifiers.org/clinvar/256160 ^@ NM_000443.3(ABCB4):c.1954A>G (p.Arg652Gly) http://identifiers.org/clinvar/256710 ^@ NM_000553.4(WRN):c.3983-18dupT http://identifiers.org/clinvar/261289 ^@ NM_020476.2(ANK1):c.1320G>A (p.Pro440=) http://identifiers.org/clinvar/261089 ^@ NM_019098.4(CNGB3):c.608G>A (p.Arg203Gln) http://identifiers.org/clinvar/256860 ^@ NM_001003722.1(GLE1):c.823G>A (p.Asp275Asn) http://identifiers.org/clinvar/262428 ^@ NM_139025.4(ADAMTS13):c.173-48G>A http://identifiers.org/clinvar/261189 ^@ NM_019892.5(INPP5E):c.1159+30T>A http://identifiers.org/clinvar/255510 ^@ NM_000197.1(HSD17B3):c.672+33A>G http://identifiers.org/clinvar/260689 ^@ NM_016169.3(SUFU):c.182+16C>T http://identifiers.org/clinvar/257549 ^@ NM_001134363.2(RBM20):c.261C>T (p.Ala87=) http://identifiers.org/clinvar/261339 ^@ NM_020549.4(CHAT):c.896C>T (p.Pro299Leu) http://identifiers.org/clinvar/255610 ^@ NM_000235.3(LIPA):c.539-5C>T http://identifiers.org/clinvar/260489 ^@ NM_014956.4(CEP164):c.4119C>T (p.Asn1373=) http://identifiers.org/clinvar/262678 ^@ NM_152722.4(HEPACAM):c.363G>A (p.Glu121=) http://identifiers.org/clinvar/260789 ^@ NM_016952.4(CDON):c.2623A>G (p.Ser875Gly) http://identifiers.org/clinvar/257499 ^@ NM_001122955.3(BSCL2):c.765+15C>T http://identifiers.org/clinvar/255660 ^@ NM_000260.3(MYO7A):c.1343+50T>A http://identifiers.org/clinvar/261239 ^@ NM_020376.3(PNPLA2):c.187+15G>A http://identifiers.org/clinvar/258199 ^@ NM_001843.3(CNTN1):c.2980+19A>T http://identifiers.org/clinvar/255760 ^@ NM_000289.5(PFKM):c.299G>A (p.Arg100Gln) http://identifiers.org/clinvar/256660 ^@ NM_000552.4(VWF):c.2385T>C (p.Tyr795=) http://identifiers.org/clinvar/258249 ^@ NM_001845.5(COL4A1):c.2130G>A (p.Pro710=) http://identifiers.org/clinvar/260389 ^@ NM_014363.5(SACS):c.-13A>G http://identifiers.org/clinvar/261389 ^@ NM_020937.3(FANCM):c.524C>T (p.Ser175Phe) http://identifiers.org/clinvar/258849 ^@ NM_002863.4(PYGL):c.93T>C (p.Ser31=) http://identifiers.org/clinvar/260289 ^@ NM_013382.5(POMT2):c.1116+35A>G http://identifiers.org/clinvar/261489 ^@ NM_022067.3(VIPAS39):c.234C>T (p.Ser78=) http://identifiers.org/clinvar/256760 ^@ NM_000693.3(ALDH1A3):c.1156A>G (p.Met386Val) http://identifiers.org/clinvar/262378 ^@ NM_138477.2(CDAN1):c.477C>T (p.Pro159=) http://identifiers.org/clinvar/333084 ^@ NM_000090.3(COL3A1):c.*592T>A http://identifiers.org/clinvar/336125 ^@ NM_133259.3(LRPPRC):c.*1371C>T http://identifiers.org/clinvar/336175 ^@ NM_133259.3(LRPPRC):c.114C>T (p.Ser38=) http://identifiers.org/clinvar/333434 ^@ NM_032977.3(CASP10):c.923-3C>T http://identifiers.org/clinvar/333484 ^@ NM_032977.3(CASP10):c.*2869A>C http://identifiers.org/clinvar/333534 ^@ NM_001044385.2(TMEM237):c.*3372C>T http://identifiers.org/clinvar/336375 ^@ NM_139279.5(MCFD2):c.*173G>T http://identifiers.org/clinvar/333584 ^@ NM_020919.3(ALS2):c.4581-7A>G http://identifiers.org/clinvar/333634 ^@ NM_001204.6(BMPR2):c.-301G>A http://identifiers.org/clinvar/333284 ^@ NM_007315.3(STAT1):c.990G>A (p.Gln330=) http://identifiers.org/clinvar/336532 ^@ NM_001135659.2(NRXN1):c.*620A>T http://identifiers.org/clinvar/333784 ^@ NM_005006.6(NDUFS1):c.1120A>G (p.Thr374Ala) http://identifiers.org/clinvar/336682 ^@ NM_002618.3(PEX13):c.*803A>G http://identifiers.org/clinvar/336732 ^@ NM_032180.2(FAM161A):c.*26C>T http://identifiers.org/clinvar/335925 ^@ NM_000104.3(CYP1B1):c.*1460A>G http://identifiers.org/clinvar/333884 ^@ NM_015040.3(PIKFYVE):c.64A>C (p.Thr22Pro) http://identifiers.org/clinvar/336025 ^@ NM_022436.2(ABCG5):c.*621C>T http://identifiers.org/clinvar/336882 ^@ NM_002056.3(GFPT1):c.-34C>T http://identifiers.org/clinvar/336932 ^@ NM_001692.3(ATP6V1B1):c.*211delG http://identifiers.org/clinvar/333684 ^@ NM_001204.6(BMPR2):c.*2901A>C http://identifiers.org/clinvar/336225 ^@ NM_001430.4(EPAS1):c.-231C>G http://identifiers.org/clinvar/336325 ^@ NM_139279.5(MCFD2):c.*3354A>G http://identifiers.org/clinvar/334185 ^@ NM_000384.2(APOB):c.400G>T (p.Ala134Ser) http://identifiers.org/clinvar/334286 ^@ NM_014140.3(SMARCAL1):c.-114G>A http://identifiers.org/clinvar/334085 ^@ NM_000384.2(APOB):c.12024C>T (p.Thr4008=) http://identifiers.org/clinvar/334486 ^@ NM_015311.2(OBSL1):c.4067-12C>T http://identifiers.org/clinvar/337082 ^@ NM_004082.4(DCTN1):c.2258C>T (p.Thr753Met) http://identifiers.org/clinvar/342572 ^@ NM_198196.2(CD96):c.*1437A>G http://identifiers.org/clinvar/342622 ^@ NM_020754.3(ARHGAP31):c.-149G>A http://identifiers.org/clinvar/342822 ^@ NM_000388.3(CASR):c.*1235A>G http://identifiers.org/clinvar/343322 ^@ NM_014382.3(ATP2C1):c.585T>C (p.Cys195=) http://identifiers.org/clinvar/342672 ^@ NM_020754.3(ARHGAP31):c.3876A>G (p.Pro1292=) http://identifiers.org/clinvar/335875 ^@ NM_014946.3(SPAST):c.*2150G>C http://identifiers.org/clinvar/343072 ^@ NM_025265.3(TSEN2):c.657T>C (p.His219=) http://identifiers.org/clinvar/335975 ^@ NM_005633.3(SOS1):c.*3451A>T http://identifiers.org/clinvar/336075 ^@ NM_022437.2(ABCG8):c.1117T>C (p.Cys373Arg) http://identifiers.org/clinvar/357717 ^@ NM_001142800.1(EYS):c.3444-5C>T http://identifiers.org/clinvar/354977 ^@ NM_014028.3(OSTM1):c.*291A>G http://identifiers.org/clinvar/358267 ^@ NM_014165.3(NDUFAF4):c.*323A>T http://identifiers.org/clinvar/355128 ^@ NM_001010892.2(RSPH4A):c.*224C>T http://identifiers.org/clinvar/358367 ^@ NM_005045.3(RELN):c.*660C>A http://identifiers.org/clinvar/355178 ^@ NM_000165.4(GJA1):c.*773delT http://identifiers.org/clinvar/358417 ^@ NM_005045.3(RELN):c.621C>T (p.Asp207=) http://identifiers.org/clinvar/355228 ^@ NM_006073.3(TRDN):c.85G>A (p.Gly29Arg) http://identifiers.org/clinvar/355378 ^@ NM_006208.2(ENPP1):c.*1101G>T http://identifiers.org/clinvar/355528 ^@ NM_000288.3(PEX7):c.130+13C>A http://identifiers.org/clinvar/358717 ^@ NM_001127500.2(MET):c.*1428G>A http://identifiers.org/clinvar/355628 ^@ NM_003764.3(STX11):c.*1571C>G http://identifiers.org/clinvar/358817 ^@ NM_000230.2(LEP):c.181G>A (p.Asp61Asn) http://identifiers.org/clinvar/355978 ^@ NM_032122.4(DTNBP1):c.-159G>A http://identifiers.org/clinvar/352238 ^@ NM_001135243.1(TCOF1):c.*1C>T http://identifiers.org/clinvar/352288 ^@ NM_000405.4(GM2A):c.*1899G>C http://identifiers.org/clinvar/352188 ^@ NM_001135243.1(TCOF1):c.-106A>C http://identifiers.org/clinvar/359906 ^@ NM_018947.5(CYCS):c.*2435G>A http://identifiers.org/clinvar/352538 ^@ NM_001099287.1(NIPAL4):c.*910A>T http://identifiers.org/clinvar/352338 ^@ NM_000337.5(SGCD):c.*150G>T http://identifiers.org/clinvar/352388 ^@ NM_000337.5(SGCD):c.*4340_*4341dupAA http://identifiers.org/clinvar/360056 ^@ NM_198428.2(BBS9):c.-228T>G http://identifiers.org/clinvar/360156 ^@ NM_000168.5(GLI3):c.*3341dupA http://identifiers.org/clinvar/360206 ^@ NM_000168.5(GLI3):c.*655A>G http://identifiers.org/clinvar/352738 ^@ NM_001017995.2(SH3PXD2B):c.*4035G>A http://identifiers.org/clinvar/356967 ^@ NM_006502.2(POLH):c.*2600C>T http://identifiers.org/clinvar/357067 ^@ NM_020745.3(AARS2):c.1661G>A (p.Arg554His) http://identifiers.org/clinvar/360456 ^@ NM_005228.4(EGFR):c.843C>T (p.Pro281=) http://identifiers.org/clinvar/352938 ^@ NM_022455.4(NSD1):c.*4523C>T http://identifiers.org/clinvar/352788 ^@ NM_001017995.2(SH3PXD2B):c.*652_*654dupTCT http://identifiers.org/clinvar/352988 ^@ NM_000505.3(F12):c.1272G>C (p.Thr424=) http://identifiers.org/clinvar/357217 ^@ NM_012120.2(CD2AP):c.*1430dupT http://identifiers.org/clinvar/357317 ^@ NM_003221.3(TFAP2B):c.*1765T>C http://identifiers.org/clinvar/353088 ^@ NM_014244.4(ADAMTS2):c.3367C>T (p.Leu1123Phe) http://identifiers.org/clinvar/353388 ^@ NM_133433.3(NIPBL):c.7362C>T (p.Asp2454=) http://identifiers.org/clinvar/353188 ^@ NM_003900.4(SQSTM1):c.*1480C>T http://identifiers.org/clinvar/357567 ^@ NM_001723.5(DST):c.5059G>A (p.Glu1687Lys) http://identifiers.org/clinvar/353488 ^@ NM_000514.3(GDNF):c.*1713C>T http://identifiers.org/clinvar/353538 ^@ NM_002310.5(LIFR):c.*5169T>A http://identifiers.org/clinvar/353288 ^@ NM_002185.3(IL7R):c.*1253G>A http://identifiers.org/clinvar/357817 ^@ NM_001851.4(COL9A1):c.-74T>C http://identifiers.org/clinvar/357867 ^@ NM_014989.5(RIMS1):c.*75G>A http://identifiers.org/clinvar/358067 ^@ NM_181714.3(LCA5):c.*1577T>G http://identifiers.org/clinvar/300247 ^@ NM_000417.2(IL2RA):c.*93G>A http://identifiers.org/clinvar/307051 ^@ NM_052845.3(MMAB):c.*691A>C http://identifiers.org/clinvar/364515 ^@ NM_001079802.1(FKTN):c.*3432dupT http://identifiers.org/clinvar/364615 ^@ NM_005592.3(MUSK):c.2331C>T (p.Asn777=) http://identifiers.org/clinvar/300697 ^@ NM_016065.3(MRPS16):c.*979C>G http://identifiers.org/clinvar/307551 ^@ NM_024809.4(TCTN2):c.671C>T (p.Thr224Met) http://identifiers.org/clinvar/307651 ^@ NM_004064.4(CDKN1B):c.-366C>T http://identifiers.org/clinvar/300847 ^@ NM_001123.3(ADK):c.*648C>T http://identifiers.org/clinvar/307851 ^@ NM_172364.4(CACNA2D4):c.2189C>G (p.Ala730Gly) http://identifiers.org/clinvar/307901 ^@ NM_019844.3(SLCO1B3):c.1241C>T (p.Thr414Ile) http://identifiers.org/clinvar/308051 ^@ NM_000719.6(CACNA1C):c.212C>T (p.Ala71Val) http://identifiers.org/clinvar/307951 ^@ NM_006446.4(SLCO1B1):c.1332-14T>C http://identifiers.org/clinvar/301047 ^@ NM_007055.3(POLR3A):c.3279C>T (p.Asp1093=) http://identifiers.org/clinvar/308101 ^@ NM_004985.4(KRAS):c.*1637_*1638delTA http://identifiers.org/clinvar/308151 ^@ NM_000719.6(CACNA1C):c.4152A>G (p.Lys1384=) http://identifiers.org/clinvar/308301 ^@ NM_139241.3(FGD4):c.*22G>A http://identifiers.org/clinvar/308701 ^@ NM_153026.2(PRICKLE1):c.*70G>A http://identifiers.org/clinvar/308851 ^@ NM_001017535.1(VDR):c.*1226T>C http://identifiers.org/clinvar/308901 ^@ NM_001844.4(COL2A1):c.*28C>T http://identifiers.org/clinvar/365554 ^@ NM_139025.4(ADAMTS13):c.2308G>A (p.Val770Met) http://identifiers.org/clinvar/365654 ^@ NM_000787.3(DBH):c.1024+9C>T http://identifiers.org/clinvar/298408 ^@ NM_004376.6(COX15):c.*256_*257delGA http://identifiers.org/clinvar/298458 ^@ NM_000392.4(ABCC2):c.2588T>C (p.Leu863Pro) http://identifiers.org/clinvar/365704 ^@ NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) http://identifiers.org/clinvar/366055 ^@ NM_144966.5(FREM1):c.*2378G>A http://identifiers.org/clinvar/366105 ^@ NM_144966.5(FREM1):c.6104G>A (p.Gly2035Glu) http://identifiers.org/clinvar/365754 ^@ NM_000093.4(COL5A1):c.*608G>A http://identifiers.org/clinvar/366205 ^@ NM_003070.4(SMARCA2):c.1422G>A (p.Gln474=) http://identifiers.org/clinvar/366355 ^@ NM_003383.4(VLDLR):c.-21_-19delGGC http://identifiers.org/clinvar/309840 ^@ NM_000456.2(SUOX):c.1050T>C (p.Tyr350=) http://identifiers.org/clinvar/365955 ^@ NM_016219.4(MAN1B1):c.770T>C (p.Phe257Ser) http://identifiers.org/clinvar/309990 ^@ NM_000785.3(CYP27B1):c.*446G>A http://identifiers.org/clinvar/310340 ^@ NM_000239.2(LYZ):c.*289_*290insTTTTTTTTTTTTT http://identifiers.org/clinvar/310440 ^@ NM_001131025.1(PEX5):c.*141G>A http://identifiers.org/clinvar/366805 ^@ NM_005476.5(GNE):c.*2269C>T http://identifiers.org/clinvar/366455 ^@ NM_000459.4(TEK):c.3301-15T>C http://identifiers.org/clinvar/366505 ^@ NM_001256054.2(C9orf72):c.*73G>A http://identifiers.org/clinvar/310795 ^@ NM_005888.3(SLC25A3):c.-38C>T http://identifiers.org/clinvar/366555 ^@ NM_005802.4(TOPORS):c.*117A>G http://identifiers.org/clinvar/366605 ^@ NM_001497.3(B4GALT1):c.*2441G>A http://identifiers.org/clinvar/340432 ^@ NM_006657.2(FTCD):c.622C>T (p.Arg208Cys) http://identifiers.org/clinvar/321869 ^@ NM_006445.3(PRPF8):c.*2C>T http://identifiers.org/clinvar/313034 ^@ NM_025152.2(NUBPL):c.*188T>C http://identifiers.org/clinvar/322758 ^@ NM_145068.3(TRPV3):c.1923C>T (p.Asp641=) http://identifiers.org/clinvar/322658 ^@ NM_000286.2(PEX12):c.-145C>T http://identifiers.org/clinvar/323158 ^@ NM_002230.2(JUP):c.*239G>A http://identifiers.org/clinvar/323358 ^@ NM_032387.4(WNK4):c.*340C>A http://identifiers.org/clinvar/323408 ^@ NM_007294.3(BRCA1):c.*1323A>G http://identifiers.org/clinvar/323558 ^@ NM_000419.4(ITGA2B):c.1157G>A (p.Arg386Gln) http://identifiers.org/clinvar/323658 ^@ NM_005910.5(MAPT):c.*412G>C http://identifiers.org/clinvar/315933 ^@ NM_138477.2(CDAN1):c.2445C>T (p.Gly815=) http://identifiers.org/clinvar/368123 ^@ NM_000132.3(F8):c.1508G>A (p.Arg503His) http://identifiers.org/clinvar/316233 ^@ NM_012388.3(BLOC1S6):c.*797T>A http://identifiers.org/clinvar/316333 ^@ NM_000138.4(FBN1):c.*1437G>A http://identifiers.org/clinvar/316533 ^@ NM_182758.3(WDR72):c.*2592_*2593insTTGTGT http://identifiers.org/clinvar/368573 ^@ NM_006306.3(SMC1A):c.*2423G>A http://identifiers.org/clinvar/316633 ^@ NM_004580.4(RAB27A):c.*949A>G http://identifiers.org/clinvar/368623 ^@ NM_000166.5(GJB1):c.-128G>A http://identifiers.org/clinvar/368673 ^@ NM_001109878.1(TBX22):c.*57A>T http://identifiers.org/clinvar/316083 ^@ NM_025137.3(SPG11):c.6205+10C>G http://identifiers.org/clinvar/316283 ^@ NM_000338.2(SLC12A1):c.*50A>C http://identifiers.org/clinvar/318073 ^@ NM_001143979.1(NDE1):c.947+6469C>A http://identifiers.org/clinvar/371928 ^@ NM_000077.4(CDKN2A):c.458-465G>C http://identifiers.org/clinvar/372078 ^@ NM_020975.4(RET):c.2488G>A (p.Gly830Arg) http://identifiers.org/clinvar/371878 ^@ NM_004329.2(BMPR1A):c.334-16A>G http://identifiers.org/clinvar/371978 ^@ NM_006231.3(POLE):c.720+16T>C http://identifiers.org/clinvar/371828 ^@ NM_000059.3(BRCA2):c.6691_6692delGCinsTT (p.Ala2231Phe) http://identifiers.org/clinvar/372128 ^@ NM_015973.4(GAL):c.116C>A (p.Ala39Glu) http://identifiers.org/clinvar/372202 ^@ NM_013276.2(SHPK):c.355C>T (p.Arg119Ter) http://identifiers.org/clinvar/372261 ^@ NM_032793.4(MFSD2A):c.497C>T (p.Ser166Leu) http://identifiers.org/clinvar/372624 ^@ NM_005633.3(SOS1):c.3256C>G (p.Pro1086Ala) http://identifiers.org/clinvar/372676 ^@ NM_000096.3(CP):c.928C>G (p.Arg310Gly) http://identifiers.org/clinvar/372574 ^@ NM_000238.3(KCNH2):c.1664G>A (p.Cys555Tyr) http://identifiers.org/clinvar/373723 ^@ NM_003482.3(KMT2D):c.7411C>T (p.Arg2471Ter) http://identifiers.org/clinvar/373773 ^@ NM_005163.2(AKT1):c.236A>G (p.Gln79Arg) http://identifiers.org/clinvar/373673 ^@ NM_000215.3(JAK3):c.2358G>A (p.Glu786=) http://identifiers.org/clinvar/373623 ^@ NM_001127221.1(CACNA1A):c.-42C>A http://identifiers.org/clinvar/372728 ^@ NM_000489.4(ATRX):c.6254G>A (p.Arg2085His) http://identifiers.org/clinvar/373823 ^@ NM_007294.3(BRCA1):c.5463_5464insT (p.His1822Serfs) http://identifiers.org/clinvar/373873 ^@ NG_005905.2:g.(?_92501)_(160933_166866)del http://identifiers.org/clinvar/374076 ^@ NM_004525.2(LRP2):c.13753C>T (p.Arg4585Ter) http://identifiers.org/clinvar/374026 ^@ NM_006940.5(SOX5):c.482-2A>C http://identifiers.org/clinvar/373976 ^@ NM_000138.4(FBN1):c.7274A>G (p.Tyr2425Cys) http://identifiers.org/clinvar/373926 ^@ NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter) http://identifiers.org/clinvar/386074 ^@ NM_033109.4(PNPT1):c.223-9A>T http://identifiers.org/clinvar/382481 ^@ NM_133259.3(LRPPRC):c.1369+20C>T http://identifiers.org/clinvar/379987 ^@ NM_014362.3(HIBCH):c.663+19G>T http://identifiers.org/clinvar/381880 ^@ NM_003849.3(SUCLG1):c.-15G>A http://identifiers.org/clinvar/388863 ^@ NM_001135659.2(NRXN1):c.1816C>T (p.Leu606=) http://identifiers.org/clinvar/378289 ^@ NM_001135659.2(NRXN1):c.1427G>A (p.Gly476Asp) http://identifiers.org/clinvar/383884 ^@ NM_001135659.2(NRXN1):c.3837A>T (p.Ala1279=) http://identifiers.org/clinvar/378897 ^@ NM_005006.6(NDUFS1):c.154-15T>C http://identifiers.org/clinvar/381190 ^@ NM_005911.5(MAT2A):c.792C>G (p.Arg264=) http://identifiers.org/clinvar/386774 ^@ NM_024334.2(TMEM43):c.*20C>T http://identifiers.org/clinvar/380688 ^@ NM_015560.2(OPA1):c.1097G>A (p.Arg366Gln) http://identifiers.org/clinvar/383032 ^@ NM_178862.2(STT3B):c.477A>G (p.Thr159=) http://identifiers.org/clinvar/383233 ^@ NM_001135659.2(NRXN1):c.4227G>A (p.Pro1409=) http://identifiers.org/clinvar/389663 ^@ NM_016599.4(MYOZ2):c.-41G>A http://identifiers.org/clinvar/383633 ^@ NM_016955.3(SEPSECS):c.1464A>G (p.Leu488=) http://identifiers.org/clinvar/378339 ^@ NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) http://identifiers.org/clinvar/387074 ^@ NM_006005.3(WFS1):c.924C>T (p.Ser308=) http://identifiers.org/clinvar/378947 ^@ NM_000038.5(APC):c.3393A>G (p.Gln1131=) http://identifiers.org/clinvar/383734 ^@ NM_014049.4(ACAD9):c.*8G>A http://identifiers.org/clinvar/388663 ^@ NM_006734.3(HIVEP2):c.4248C>G (p.Gly1416=) http://identifiers.org/clinvar/383082 ^@ NM_133433.3(NIPBL):c.6438C>T (p.Thr2146=) http://identifiers.org/clinvar/380337 ^@ NM_002290.4(LAMA4):c.3090-18G>A http://identifiers.org/clinvar/382932 ^@ NM_018341.2(ERMARD):c.1944A>G (p.Thr648=) http://identifiers.org/clinvar/380839 ^@ NM_002291.2(LAMB1):c.1407G>A (p.Gly469=) http://identifiers.org/clinvar/388263 ^@ NM_004415.3(DSP):c.123C>G (p.Tyr41Ter) http://identifiers.org/clinvar/389113 ^@ NM_001458.4(FLNC):c.-36G>T http://identifiers.org/clinvar/386124 ^@ NM_000445.4(PLEC):c.7522C>G (p.Gln2508Glu) http://identifiers.org/clinvar/387324 ^@ NM_000445.4(PLEC):c.1710G>T (p.Glu570Asp) http://identifiers.org/clinvar/387863 ^@ NM_012210.3(TRIM32):c.882T>C (p.Ala294=) http://identifiers.org/clinvar/377837 ^@ NM_001034850.2(RETREG1):c.379C>T (p.Arg127Cys) http://identifiers.org/clinvar/382632 ^@ NM_001540.3(HSPB1):c.318G>C (p.Pro106=) http://identifiers.org/clinvar/388763 ^@ NM_003172.3(SURF1):c.657G>A (p.Glu219=) http://identifiers.org/clinvar/383583 ^@ NM_024531.4(SLC52A2):c.359T>C (p.Val120Ala) http://identifiers.org/clinvar/383984 ^@ NM_003165.3(STXBP1):c.795-14C>T http://identifiers.org/clinvar/386574 ^@ NM_018341.2(ERMARD):c.257C>A (p.Thr86Asn) http://identifiers.org/clinvar/380789 ^@ NM_018341.2(ERMARD):c.1618A>G (p.Ser540Gly) http://identifiers.org/clinvar/390652 ^@ NM_004415.3(DSP):c.3642T>A (p.Ile1214=) http://identifiers.org/clinvar/378037 ^@ NM_020822.2(KCNT1):c.1628A>G (p.Gln543Arg) http://identifiers.org/clinvar/133016 ^@ NM_000540.2(RYR1):c.11590+43C>T http://identifiers.org/clinvar/133066 ^@ NM_000540.2(RYR1):c.14410C>T (p.His4804Tyr) http://identifiers.org/clinvar/133116 ^@ NM_000540.2(RYR1):c.2455C>T (p.Arg819Ter) http://identifiers.org/clinvar/133166 ^@ NM_000540.2(RYR1):c.6635T>A (p.Val2212Asp) http://identifiers.org/clinvar/133216 ^@ NM_000540.2(RYR1):c.7926+28A>G http://identifiers.org/clinvar/133292 ^@ NM_021008.3(DEAF1):c.791A>C (p.Gln264Pro) http://identifiers.org/clinvar/133358 ^@ NM_017617.4(NOTCH1):c.5167+189delCinsGG http://identifiers.org/clinvar/133408 ^@ NM_003820.3(TNFRSF14):c.305-249C>T http://identifiers.org/clinvar/133458 ^@ NM_004304.4(ALK):c.522C>A (p.Phe174Leu) http://identifiers.org/clinvar/133509 ^@ NM_000038.5(APC):c.3650A>C (p.Asn1217Thr) http://identifiers.org/clinvar/133559 ^@ NM_152641.3(ARID2):c.1759A>G (p.Ser587Gly) http://identifiers.org/clinvar/133609 ^@ NM_000051.3(ATM):c.2573dupT (p.Asn859Terfs) http://identifiers.org/clinvar/133659 ^@ NM_000489.4(ATRX):c.3541G>C (p.Val1181Leu) http://identifiers.org/clinvar/133709 ^@ NM_000057.3(BLM):c.376C>G (p.Pro126Ala) http://identifiers.org/clinvar/133763 ^@ NM_032043.2(BRIP1):c.964C>T (p.Gln322Ter) http://identifiers.org/clinvar/133813 ^@ NM_005188.3(CBL):c.2710G>A (p.Val904Ile) http://identifiers.org/clinvar/133863 ^@ NM_015083.2(CDK12):c.3797C>T (p.Pro1266Leu) http://identifiers.org/clinvar/135548 ^@ NM_000141.4(FGFR2):c.748+18C>T http://identifiers.org/clinvar/136045 ^@ NM_002485.4(NBN):c.384A>G (p.Leu128=) http://identifiers.org/clinvar/184459 ^@ NM_001042492.2(NF1):c.7569C>T (p.Ser2523=) http://identifiers.org/clinvar/186950 ^@ NM_001042492.2(NF1):c.7738+3G>A http://identifiers.org/clinvar/186248 ^@ NM_002878.3(RAD51D):c.797G>A (p.Arg266His) http://identifiers.org/clinvar/186549 ^@ NM_007294.3(BRCA1):c.3804T>G (p.Asn1268Lys) http://identifiers.org/clinvar/184109 ^@ NM_007294.3(BRCA1):c.3615G>A (p.Gly1205=) http://identifiers.org/clinvar/185698 ^@ NM_007294.3(BRCA1):c.1745C>T (p.Thr582Met) http://identifiers.org/clinvar/186850 ^@ NM_007294.3(BRCA1):c.1308T>C (p.Pro436=) http://identifiers.org/clinvar/187050 ^@ NM_007294.3(BRCA1):c.1131C>A (p.Ser377Arg) http://identifiers.org/clinvar/184709 ^@ NM_007294.3(BRCA1):c.997A>G (p.Thr333Ala) http://identifiers.org/clinvar/186098 ^@ NM_058216.2(RAD51C):c.1119G>A (p.Glu373=) http://identifiers.org/clinvar/186600 ^@ NM_032043.2(BRIP1):c.2870C>T (p.Pro957Leu) http://identifiers.org/clinvar/184209 ^@ NM_032043.2(BRIP1):c.2631A>G (p.Ala877=) http://identifiers.org/clinvar/186498 ^@ NM_000546.5(TP53):c.390C>T (p.Leu130=) http://identifiers.org/clinvar/183958 ^@ NM_000455.4(STK11):c.246G>A (p.Lys82=) http://identifiers.org/clinvar/184509 ^@ NM_000455.4(STK11):c.453C>T (p.Cys151=) http://identifiers.org/clinvar/185798 ^@ NM_000455.4(STK11):c.536C>T (p.Pro179Leu) http://identifiers.org/clinvar/184159 ^@ NM_000455.4(STK11):c.618G>T (p.Ala206=) http://identifiers.org/clinvar/186800 ^@ NM_007194.3(CHEK2):c.593-1G>A http://identifiers.org/clinvar/186900 ^@ NM_007194.3(CHEK2):c.479T>C (p.Ile160Thr) http://identifiers.org/clinvar/189644 ^@ NM_004992.3(MECP2):c.1078_*2524del2908 http://identifiers.org/clinvar/189694 ^@ NM_004992.3(MECP2):c.27-3928_1184del http://identifiers.org/clinvar/189744 ^@ NM_004992.3(MECP2):c.1061_1156del96 (p.Arg354_Pro385del) http://identifiers.org/clinvar/189594 ^@ NM_003159.2(CDKL5):c.526T>G (p.Trp176Gly) http://identifiers.org/clinvar/189544 ^@ NM_003159.2(CDKL5):c.978-49_978-41del9 http://identifiers.org/clinvar/189814 ^@ NC_000017.11:g.(?_68515394)_(68515576_?)del http://identifiers.org/clinvar/190028 ^@ NM_001165963.1(SCN1A):c.3821A>C (p.Tyr1274Ser) http://identifiers.org/clinvar/189978 ^@ NM_001165963.1(SCN1A):c.2780G>T (p.Cys927Phe) http://identifiers.org/clinvar/189928 ^@ NM_001165963.1(SCN1A):c.1170+1G>T http://identifiers.org/clinvar/189878 ^@ NM_001165963.1(SCN1A):c.659_662delTTCT (p.Val220Alafs) http://identifiers.org/clinvar/190214 ^@ NM_004628.4(XPC):c.2251-6A>C http://identifiers.org/clinvar/190163 ^@ NM_000124.3(ERCC6):c.2830-2A>G http://identifiers.org/clinvar/190276 ^@ COL4A3BP, SER132LEU http://identifiers.org/clinvar/190347 ^@ NM_002055.4(GFAP):c.791_792delTGinsCT (p.Leu264Pro) http://identifiers.org/clinvar/190408 ^@ NM_000257.3(MYH7):c.4987G>C (p.Ala1663Pro) http://identifiers.org/clinvar/229259 ^@ NM_000441.1(SLC26A4):c.463A>G (p.Met155Val) http://identifiers.org/clinvar/226587 ^@ NM_001277115.1(DNAH11):c.6117G>A (p.Ala2039=) http://identifiers.org/clinvar/227289 ^@ NM_015404.3(WHRN):c.1833C>T (p.Ser611=) http://identifiers.org/clinvar/227669 ^@ NM_017433.4(MYO3A):c.4088G>A (p.Arg1363Lys) http://identifiers.org/clinvar/227719 ^@ NM_032578.3(MYPN):c.3416G>A (p.Arg1139His) http://identifiers.org/clinvar/227238 ^@ NM_022124.5(CDH23):c.8574C>T (p.Asp2858=) http://identifiers.org/clinvar/229309 ^@ NM_005422.2(TECTA):c.956C>A (p.Thr319Asn) http://identifiers.org/clinvar/226737 ^@ NM_002458.2(MUC5B):c.2769+4C>T http://identifiers.org/clinvar/227769 ^@ NM_001277269.1(OTOG):c.2522+7G>A http://identifiers.org/clinvar/226887 ^@ NM_001277269.1(OTOG):c.3459C>T (p.Leu1153=) http://identifiers.org/clinvar/227569 ^@ NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=) http://identifiers.org/clinvar/226987 ^@ NM_012226.4(P2RX2):c.483C>T (p.Asp161=) http://identifiers.org/clinvar/226937 ^@ NM_173591.3(OTOGL):c.3098A>G (p.Tyr1033Cys) http://identifiers.org/clinvar/227819 ^@ NM_173591.3(OTOGL):c.3157A>T (p.Ile1053Phe) http://identifiers.org/clinvar/226637 ^@ NM_004452.3(ESRRB):c.813C>T (p.Asp271=) http://identifiers.org/clinvar/226787 ^@ NM_016239.3(MYO15A):c.4533C>T (p.Ala1511=) http://identifiers.org/clinvar/229609 ^@ NM_173477.4(USH1G):c.806G>A (p.Arg269Gln) http://identifiers.org/clinvar/226487 ^@ NM_017950.3(CCDC40):c.1144G>A (p.Glu382Lys) http://identifiers.org/clinvar/227339 ^@ NM_001943.4(DSG2):c.216+14_216+15delAG http://identifiers.org/clinvar/226837 ^@ NM_003803.3(MYOM1):c.924C>A (p.Val308=) http://identifiers.org/clinvar/227088 ^@ NM_001039876.2(SYNE4):c.799C>T (p.Arg267Trp) http://identifiers.org/clinvar/227619 ^@ NM_002473.5(MYH9):c.705+14C>T http://identifiers.org/clinvar/229359 ^@ NM_001039141.2(TRIOBP):c.5519G>A (p.Arg1840His) http://identifiers.org/clinvar/227138 ^@ NM_144991.2(TSPEAR):c.542+14C>T http://identifiers.org/clinvar/230211 ^@ NM_000535.6(PMS2):c.353+4A>G http://identifiers.org/clinvar/230311 ^@ NM_000465.3(BARD1):c.1188T>C (p.Pro396=) http://identifiers.org/clinvar/232851 ^@ NM_000465.3(BARD1):c.722C>A (p.Ser241Tyr) http://identifiers.org/clinvar/232400 ^@ NM_000465.3(BARD1):c.-2C>G http://identifiers.org/clinvar/233001 ^@ NM_000251.2(MSH2):c.1480T>C (p.Ser494Pro) http://identifiers.org/clinvar/233943 ^@ NM_000251.2(MSH2):c.2377C>A (p.Gln793Lys) http://identifiers.org/clinvar/232250 ^@ NM_000179.2(MSH6):c.275_276delCAinsTG (p.Pro92Leu) http://identifiers.org/clinvar/229711 ^@ NM_000179.2(MSH6):c.1035T>C (p.Asn345=) http://identifiers.org/clinvar/230361 ^@ NM_000179.2(MSH6):c.2853C>G (p.Leu951=) http://identifiers.org/clinvar/232350 ^@ NM_000179.2(MSH6):c.2858A>G (p.Glu953Gly) http://identifiers.org/clinvar/232000 ^@ NM_000179.2(MSH6):c.3002A>G (p.Lys1001Arg) http://identifiers.org/clinvar/232951 ^@ NM_000249.3(MLH1):c.769A>G (p.Ile257Val) http://identifiers.org/clinvar/263331 ^@ NM_005902.3(SMAD3):c.414G>A (p.Val138=) http://identifiers.org/clinvar/264036 ^@ NM_005902.3(SMAD3):c.1102C>A (p.Arg368=) http://identifiers.org/clinvar/263686 ^@ NM_002474.2(MYH11):c.3910A>C (p.Ile1304Leu) http://identifiers.org/clinvar/263383 ^@ NM_080647.1(TBX1):c.664C>T (p.Leu222=) http://identifiers.org/clinvar/263636 ^@ NM_006440.4(TXNRD2):c.1174T>C (p.Tyr392His) http://identifiers.org/clinvar/264646 ^@ NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/264706 ^@ NM_015093.5(TAB2):c.1705G>A (p.Glu569Lys) http://identifiers.org/clinvar/264757 ^@ NM_001242896.1(DEPDC5):c.1454G>A (p.Arg485Gln) http://identifiers.org/clinvar/264862 ^@ NM_000059.3(BRCA2):c.-40+192C>T http://identifiers.org/clinvar/264962 ^@ NM_000059.3(BRCA2):c.682-602C>T http://identifiers.org/clinvar/264912 ^@ NM_000059.3(BRCA2):c.9256+2337G>A http://identifiers.org/clinvar/264812 ^@ NM_007294.3(BRCA1):c.594-622G>C http://identifiers.org/clinvar/265014 ^@ NM_000350.2(ABCA4):c.2608C>T (p.Pro870Ser) http://identifiers.org/clinvar/265573 ^@ NM_000251.2(MSH2):c.1865C>G (p.Pro622Arg) http://identifiers.org/clinvar/265422 ^@ NM_000532.4(PCCB):c.337C>T (p.Arg113Ter) http://identifiers.org/clinvar/265673 ^@ NM_000094.3(COL7A1):c.5300G>A (p.Gly1767Glu) http://identifiers.org/clinvar/265272 ^@ NM_003280.2(TNNC1):c.141G>T (p.Met47Ile) http://identifiers.org/clinvar/265372 ^@ NM_000038.5(APC):c.1312+5G>C http://identifiers.org/clinvar/265623 ^@ NM_032119.3(ADGRV1):c.10213C>T (p.Arg3405Ter) http://identifiers.org/clinvar/265472 ^@ NM_207122.1(EXT2):c.539G>A (p.Trp180Ter) http://identifiers.org/clinvar/265219 ^@ NM_000424.3(KRT5):c.1675C>T (p.Arg559Ter) http://identifiers.org/clinvar/265322 ^@ NM_130838.1(UBE3A):c.2373_2374delAG (p.Arg791Serfs) http://identifiers.org/clinvar/265167 ^@ NM_000512.4(GALNS):c.415G>A (p.Gly139Ser) http://identifiers.org/clinvar/265067 ^@ NM_018896.4(CACNA1G):c.2599A>C (p.Thr867Pro) http://identifiers.org/clinvar/265117 ^@ NM_001972.3(ELANE):c.67+1delG http://identifiers.org/clinvar/265522 ^@ NM_017929.5(PEX26):c.368T>C (p.Leu123Pro) http://identifiers.org/clinvar/265755 ^@ NM_024818.4(UBA5):c.169A>G (p.Met57Val) http://identifiers.org/clinvar/265860 ^@ NM_000451.3(SHOX):c.*284_*285dupAG http://identifiers.org/clinvar/291641 ^@ NM_015074.3(KIF1B):c.*3202C>A http://identifiers.org/clinvar/291791 ^@ NM_006610.3(MASP2):c.882G>A (p.Thr294=) http://identifiers.org/clinvar/291691 ^@ NM_013296.4(GPSM2):c.-441G>C http://identifiers.org/clinvar/291741 ^@ NM_007375.3(TARDBP):c.*129T>C http://identifiers.org/clinvar/291941 ^@ NM_002524.4(NRAS):c.*3392T>C http://identifiers.org/clinvar/291841 ^@ NM_003051.3(SLC16A1):c.*948G>A http://identifiers.org/clinvar/291891 ^@ NM_013319.2(UBIAD1):c.*1060G>A http://identifiers.org/clinvar/292091 ^@ NM_138959.2(VANGL1):c.*5444C>G http://identifiers.org/clinvar/291991 ^@ NM_002506.2(NGF):c.239G>A (p.Arg80Gln) http://identifiers.org/clinvar/292041 ^@ NM_138959.2(VANGL1):c.*1749G>A http://identifiers.org/clinvar/292980 ^@ NM_003126.2(SPTA1):c.4833G>A (p.Arg1611=) http://identifiers.org/clinvar/293780 ^@ NM_022089.3(ATP13A2):c.2406C>T (p.Gly802=) http://identifiers.org/clinvar/293680 ^@ NM_152281.2(GORAB):c.*1065A>T http://identifiers.org/clinvar/293730 ^@ NM_000639.2(FASLG):c.177_182delGCCGCC (p.Pro61_Pro62del) http://identifiers.org/clinvar/293030 ^@ NM_003126.2(SPTA1):c.1731G>T (p.Leu577Phe) http://identifiers.org/clinvar/294130 ^@ NM_031935.2(HMCN1):c.3422G>A (p.Arg1141His) http://identifiers.org/clinvar/294230 ^@ NM_031935.2(HMCN1):c.11556A>T (p.Ser3852=) http://identifiers.org/clinvar/294280 ^@ NM_031935.2(HMCN1):c.14814A>G (p.Ala4938=) http://identifiers.org/clinvar/293480 ^@ NM_005149.2(TBX19):c.1147C>T (p.Leu383Phe) http://identifiers.org/clinvar/294380 ^@ NM_003748.3(ALDH4A1):c.1082G>C (p.Trp361Ser) http://identifiers.org/clinvar/293530 ^@ NM_006996.2(SLC19A2):c.283C>T (p.Leu95Phe) http://identifiers.org/clinvar/294530 ^@ NM_030787.3(CFHR5):c.-76_-75delGT http://identifiers.org/clinvar/294580 ^@ NM_001994.2(F13B):c.1060T>C (p.Tyr354His) http://identifiers.org/clinvar/293580 ^@ NM_000130.4(F5):c.5558G>T (p.Gly1853Val) http://identifiers.org/clinvar/294630 ^@ NM_018136.4(ASPM):c.4457A>G (p.Tyr1486Cys) http://identifiers.org/clinvar/293630 ^@ NM_000130.4(F5):c.1300G>A (p.Val434Met) http://identifiers.org/clinvar/294930 ^@ NM_003465.2(CHIT1):c.400G>A (p.Gly134Ser) http://identifiers.org/clinvar/293830 ^@ NM_018122.4(DARS2):c.1829G>C (p.Gly610Ala) http://identifiers.org/clinvar/293880 ^@ NM_033343.3(LHX4):c.*289G>A http://identifiers.org/clinvar/293980 ^@ NM_005562.2(LAMC2):c.-39C>T http://identifiers.org/clinvar/344261 ^@ NM_181426.1(CCDC39):c.2626C>T (p.Arg876Cys) http://identifiers.org/clinvar/343372 ^@ NM_153240.4(NPHP3):c.*121_*123delGCT http://identifiers.org/clinvar/344561 ^@ NM_000461.4(THRB):c.*4129C>G http://identifiers.org/clinvar/344661 ^@ NM_003242.5(TGFBR2):c.1042C>T (p.Arg348Cys) http://identifiers.org/clinvar/336632 ^@ NM_001039348.2(EFEMP1):c.134T>C (p.Ile45Thr) http://identifiers.org/clinvar/344761 ^@ NM_015141.3(GPD1L):c.*1634G>A http://identifiers.org/clinvar/336275 ^@ NM_001430.4(EPAS1):c.2353C>A (p.Pro785Thr) http://identifiers.org/clinvar/344911 ^@ NM_000249.3(MLH1):c.*162_*165delGATT http://identifiers.org/clinvar/336832 ^@ NM_002056.3(GFPT1):c.*2509A>T http://identifiers.org/clinvar/336432 ^@ NM_000251.2(MSH2):c.*7C>G http://identifiers.org/clinvar/345011 ^@ NM_001106.3(ACVR2B):c.*6465A>G http://identifiers.org/clinvar/336482 ^@ NM_000145.3(FSHR):c.1330G>A (p.Ala444Thr) http://identifiers.org/clinvar/345061 ^@ NM_198056.2(SCN5A):c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG http://identifiers.org/clinvar/336582 ^@ NM_001135659.2(NRXN1):c.-1255C>G http://identifiers.org/clinvar/336982 ^@ NM_003494.3(DYSF):c.*179G>A http://identifiers.org/clinvar/337032 ^@ NM_015120.4(ALMS1):c.10829A>G (p.Gln3610Arg) http://identifiers.org/clinvar/336782 ^@ NM_002056.3(GFPT1):c.*6126A>G http://identifiers.org/clinvar/344611 ^@ NM_000461.4(THRB):c.*1409T>C http://identifiers.org/clinvar/344811 ^@ NM_006371.4(CRTAP):c.767T>G (p.Phe256Cys) http://identifiers.org/clinvar/344861 ^@ NM_006371.4(CRTAP):c.*3113G>A http://identifiers.org/clinvar/345761 ^@ NM_033629.4(TREX1):c.-515T>C http://identifiers.org/clinvar/345811 ^@ NM_000094.3(COL7A1):c.7273G>T (p.Gly2425Cys) http://identifiers.org/clinvar/345211 ^@ NM_016006.4(ABHD5):c.-30A>G http://identifiers.org/clinvar/345361 ^@ NM_020208.3(SLC6A20):c.*2176T>C http://identifiers.org/clinvar/342372 ^@ NM_033084.4(FANCD2):c.2826G>C (p.Thr942=) http://identifiers.org/clinvar/342272 ^@ NM_016247.3(IMPG2):c.*4121T>G http://identifiers.org/clinvar/345711 ^@ NM_002222.5(ITPR1):c.2235G>T (p.Leu745=) http://identifiers.org/clinvar/342322 ^@ NM_016247.3(IMPG2):c.*426G>A http://identifiers.org/clinvar/342522 ^@ NM_198196.2(CD96):c.419-13T>C http://identifiers.org/clinvar/346800 ^@ NM_014043.3(CHMP2B):c.-205C>T http://identifiers.org/clinvar/345611 ^@ NM_015175.2(NBEAL2):c.51+11C>T http://identifiers.org/clinvar/342422 ^@ NM_000551.3(VHL):c.*938_*942dupGTTTT http://identifiers.org/clinvar/342472 ^@ NM_000551.3(VHL):c.*2541_*2546delTTTTTG http://identifiers.org/clinvar/347000 ^@ NM_000097.5(CPOX):c.-55G>C http://identifiers.org/clinvar/347100 ^@ NM_005908.3(MANBA):c.178-8A>G http://identifiers.org/clinvar/345861 ^@ NM_000094.3(COL7A1):c.3232C>T (p.Arg1078Cys) http://identifiers.org/clinvar/342772 ^@ NM_001023570.3(IQCB1):c.1544G>T (p.Ser515Ile) http://identifiers.org/clinvar/345961 ^@ NM_199069.1(NDUFAF3):c.-118G>A http://identifiers.org/clinvar/342722 ^@ NM_020754.3(ARHGAP31):c.*2743C>G http://identifiers.org/clinvar/346011 ^@ NM_002292.3(LAMB2):c.280C>T (p.Arg94Trp) http://identifiers.org/clinvar/347500 ^@ NM_152618.2(BBS12):c.1207G>A (p.Val403Met) http://identifiers.org/clinvar/342972 ^@ NM_000373.3(UMPS):c.*2230C>T http://identifiers.org/clinvar/342872 ^@ NM_053025.3(MYLK):c.4348C>T (p.Arg1450Trp) http://identifiers.org/clinvar/342922 ^@ NM_015869.4(PPARG):c.438T>C (p.Ala146=) http://identifiers.org/clinvar/347600 ^@ NM_172250.2(MMAA):c.597G>A (p.Glu199=) http://identifiers.org/clinvar/343022 ^@ NM_000373.3(UMPS):c.*4178A>G http://identifiers.org/clinvar/343122 ^@ NM_032638.4(GATA2):c.*482_*484delCTC http://identifiers.org/clinvar/343172 ^@ NM_004637.5(RAB7A):c.*700C>T http://identifiers.org/clinvar/347800 ^@ NM_005141.4(FGB):c.*1617A>T http://identifiers.org/clinvar/343272 ^@ NM_000539.3(RHO):c.-51G>A http://identifiers.org/clinvar/347750 ^@ NM_001080522.2(CC2D2A):c.-212T>C http://identifiers.org/clinvar/347850 ^@ NM_004744.4(LRAT):c.258G>A (p.Gly86=) http://identifiers.org/clinvar/343222 ^@ NM_000174.4(GP9):c.501C>G (p.Gly167=) http://identifiers.org/clinvar/346750 ^@ NM_002942.4(ROBO2):c.*2370C>T http://identifiers.org/clinvar/353588 ^@ NM_002310.5(LIFR):c.*1302T>G http://identifiers.org/clinvar/358467 ^@ NM_006348.3(COG5):c.888C>T (p.Asp296=) http://identifiers.org/clinvar/354038 ^@ NM_017755.5(NSUN2):c.*581T>C http://identifiers.org/clinvar/355027 ^@ NM_014845.5(FIG4):c.-132A>G http://identifiers.org/clinvar/355077 ^@ NM_000493.3(COL10A1):c.*416G>A http://identifiers.org/clinvar/359656 ^@ NM_001277115.1(DNAH11):c.8511-15G>A http://identifiers.org/clinvar/359706 ^@ NM_001277115.1(DNAH11):c.*156T>C http://identifiers.org/clinvar/355478 ^@ NM_172105.3(EYA4):c.*3267C>A http://identifiers.org/clinvar/355278 ^@ NM_000426.3(LAMA2):c.5446-14A>T http://identifiers.org/clinvar/355578 ^@ NM_003630.2(PEX3):c.*129C>T http://identifiers.org/clinvar/355328 ^@ NM_006208.2(ENPP1):c.313+45_313+46dupGT http://identifiers.org/clinvar/359956 ^@ NM_005522.4(HOXA1):c.691G>A (p.Ala231Thr) http://identifiers.org/clinvar/360006 ^@ NM_002047.3(GARS):c.765G>A (p.Ala255=) http://identifiers.org/clinvar/355428 ^@ NM_006208.2(ENPP1):c.*4015G>A http://identifiers.org/clinvar/360256 ^@ NM_000168.5(GLI3):c.444C>T (p.Tyr148=) http://identifiers.org/clinvar/355828 ^@ NM_033071.3(SYNE1):c.21767T>A (p.Leu7256His) http://identifiers.org/clinvar/360306 ^@ NM_014855.2(AP5Z1):c.313C>T (p.His105Tyr) http://identifiers.org/clinvar/355878 ^@ NM_033071.3(SYNE1):c.13010C>G (p.Ala4337Gly) http://identifiers.org/clinvar/355678 ^@ NM_203395.2(IYD):c.762C>T (p.Pro254=) http://identifiers.org/clinvar/360506 ^@ NM_004577.3(PSPH):c.249A>C (p.Gln83His) http://identifiers.org/clinvar/360556 ^@ NM_000181.3(GUSB):c.45G>A (p.Leu15=) http://identifiers.org/clinvar/355778 ^@ NM_203395.2(IYD):c.*5598G>A http://identifiers.org/clinvar/356078 ^@ NM_198586.2(NHLRC1):c.*61C>A http://identifiers.org/clinvar/360656 ^@ NM_000501.3(ELN):c.1507G>A (p.Val503Met) http://identifiers.org/clinvar/360706 ^@ NM_000941.2(POR):c.897C>T (p.Thr299=) http://identifiers.org/clinvar/360756 ^@ NM_001001547.2(CD36):c.390A>T (p.Thr130=) http://identifiers.org/clinvar/360856 ^@ NM_005751.4(AKAP9):c.11549A>G (p.Tyr3850Cys) http://identifiers.org/clinvar/356178 ^@ NM_001080.3(ALDH5A1):c.*2059C>T http://identifiers.org/clinvar/356278 ^@ NM_001710.5(CFB):c.720G>A (p.Glu240=) http://identifiers.org/clinvar/365604 ^@ NM_014694.3(ADAMTSL2):c.2325C>G (p.Ser775=) http://identifiers.org/clinvar/365804 ^@ NM_014564.4(LHX3):c.*582G>A http://identifiers.org/clinvar/365854 ^@ NM_052813.4(CARD9):c.288C>A (p.Gly96=) http://identifiers.org/clinvar/365905 ^@ NM_006412.3(AGPAT2):c.*418G>A http://identifiers.org/clinvar/357117 ^@ NM_001024630.3(RUNX2):c.*1684G>C http://identifiers.org/clinvar/357017 ^@ NM_152732.4(RSPH9):c.385G>A (p.Glu129Lys) http://identifiers.org/clinvar/366155 ^@ NM_144966.5(FREM1):c.1815C>G (p.Ile605Met) http://identifiers.org/clinvar/312384 ^@ NM_000053.3(ATP7B):c.3121C>T (p.Arg1041Trp) http://identifiers.org/clinvar/312484 ^@ NM_052910.2(SLITRK1):c.*1134T>C http://identifiers.org/clinvar/304296 ^@ NM_000280.4(PAX6):c.*4361T>C http://identifiers.org/clinvar/312584 ^@ NM_005708.4(GPC6):c.*1665C>A http://identifiers.org/clinvar/312934 ^@ NM_006177.3(NRL):c.*283delG http://identifiers.org/clinvar/298558 ^@ NM_024747.5(HPS6):c.1201G>A (p.Asp401Asn) http://identifiers.org/clinvar/298958 ^@ NM_004281.3(BAG3):c.693G>A (p.Thr231=) http://identifiers.org/clinvar/313234 ^@ NM_020937.3(FANCM):c.*368C>G http://identifiers.org/clinvar/298808 ^@ NM_001134363.2(RBM20):c.*386T>C http://identifiers.org/clinvar/313334 ^@ NM_002863.4(PYGL):c.-127A>G http://identifiers.org/clinvar/299258 ^@ NM_006214.3(PHYH):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/304796 ^@ NM_004813.2(PEX16):c.348C>T (p.Ile116=) http://identifiers.org/clinvar/313384 ^@ NM_000161.2(GCH1):c.*367G>A http://identifiers.org/clinvar/313434 ^@ NM_007374.2(SIX6):c.651C>T (p.Gly217=) http://identifiers.org/clinvar/299358 ^@ NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) http://identifiers.org/clinvar/304896 ^@ NM_002334.3(LRP4):c.801C>T (p.Thr267=) http://identifiers.org/clinvar/304946 ^@ NM_000256.3(MYBPC3):c.3627+6G>T http://identifiers.org/clinvar/304996 ^@ NM_004551.2(NDUFS3):c.381+6T>C http://identifiers.org/clinvar/305046 ^@ NM_016464.4(TMEM138):c.-520_-518delTCC http://identifiers.org/clinvar/305098 ^@ NM_017841.2(SDHAF2):c.*172delA http://identifiers.org/clinvar/299558 ^@ NM_201590.2(CACNB2):c.747G>A (p.Ala249=) http://identifiers.org/clinvar/299158 ^@ NM_001609.3(ACADSB):c.*4177G>A http://identifiers.org/clinvar/300297 ^@ NM_018055.4(NODAL):c.*121C>A http://identifiers.org/clinvar/300347 ^@ NM_000281.3(PCBD1):c.205G>A (p.Val69Met) http://identifiers.org/clinvar/305987 ^@ NM_001145308.4(LRTOMT):c.-123T>C http://identifiers.org/clinvar/300397 ^@ NM_022124.5(CDH23):c.-15C>A http://identifiers.org/clinvar/300447 ^@ NM_022124.5(CDH23):c.5865C>T (p.Asn1955=) http://identifiers.org/clinvar/329256 ^@ NM_181882.2(PRX):c.3549C>T (p.Tyr1183=) http://identifiers.org/clinvar/329406 ^@ NM_152296.4(ATP1A3):c.2334G>A (p.Thr778=) http://identifiers.org/clinvar/309940 ^@ NM_004984.2(KIF5A):c.1866C>T (p.Thr622=) http://identifiers.org/clinvar/311345 ^@ NM_021954.3(GJA3):c.440G>A (p.Arg147Gln) http://identifiers.org/clinvar/329656 ^@ NM_025136.3(OPA3):c.*1340C>T http://identifiers.org/clinvar/310040 ^@ NM_000552.4(VWF):c.7698G>A (p.Lys2566=) http://identifiers.org/clinvar/310090 ^@ NM_000552.4(VWF):c.114C>T (p.Phe38=) http://identifiers.org/clinvar/310240 ^@ NM_014319.4(LEMD3):c.1813A>G (p.Ile605Val) http://identifiers.org/clinvar/310390 ^@ NM_173353.3(TPH2):c.1444A>G (p.Asn482Asp) http://identifiers.org/clinvar/318675 ^@ NM_020705.2(TBC1D24):c.*2851C>T http://identifiers.org/clinvar/318825 ^@ NM_000034.3(ALDOA):c.61C>T (p.His21Tyr) http://identifiers.org/clinvar/318875 ^@ NM_006662.2(SRCAP):c.3532C>T (p.Arg1178Cys) http://identifiers.org/clinvar/318925 ^@ NM_006662.2(SRCAP):c.*342delC http://identifiers.org/clinvar/312184 ^@ NM_014252.3(SLC25A15):c.*58G>T http://identifiers.org/clinvar/310645 ^@ NM_001920.4(DCN):c.*289A>T http://identifiers.org/clinvar/319075 ^@ NM_003041.3(SLC5A2):c.1844G>C (p.Cys615Ser) http://identifiers.org/clinvar/312284 ^@ NM_000321.2(RB1):c.608-4delT http://identifiers.org/clinvar/310845 ^@ NM_000282.3(PCCA):c.778A>C (p.Ile260Leu) http://identifiers.org/clinvar/319225 ^@ NM_032575.2(GLIS2):c.1476G>A (p.Thr492=) http://identifiers.org/clinvar/312434 ^@ NM_006493.2(CLN5):c.*292G>A http://identifiers.org/clinvar/319325 ^@ NM_014321.3(ORC6):c.*764_*767delCAAT http://identifiers.org/clinvar/319425 ^@ NM_022162.2(NOD2):c.274G>A (p.Val92Ile) http://identifiers.org/clinvar/319476 ^@ NM_022162.2(NOD2):c.*89C>T http://identifiers.org/clinvar/312534 ^@ NM_005708.4(GPC6):c.-133G>T http://identifiers.org/clinvar/312784 ^@ NM_020366.3(RPGRIP1):c.912C>T (p.Tyr304=) http://identifiers.org/clinvar/312834 ^@ NM_001126106.2(SLC7A7):c.-234delT http://identifiers.org/clinvar/312884 ^@ NM_002471.3(MYH6):c.-8G>A http://identifiers.org/clinvar/320115 ^@ NM_001297.4(CNGB1):c.-25G>A http://identifiers.org/clinvar/320265 ^@ NM_004360.4(CDH1):c.1887A>G (p.Glu629=) http://identifiers.org/clinvar/313084 ^@ NM_021914.7(CFL2):c.*1295_*1297delCTT http://identifiers.org/clinvar/313134 ^@ NM_001079668.2(NKX2-1):c.*209T>A http://identifiers.org/clinvar/320365 ^@ NM_015386.2(COG4):c.2163G>A (p.Thr721=) http://identifiers.org/clinvar/313184 ^@ NM_006194.3(PAX9):c.*901C>T http://identifiers.org/clinvar/320515 ^@ NM_021615.4(CHST6):c.*4497G>A http://identifiers.org/clinvar/339432 ^@ NM_025219.2(DNAJC5):c.*3670A>G http://identifiers.org/clinvar/339682 ^@ NM_178817.3(MRAP):c.389C>T (p.Thr130Ile) http://identifiers.org/clinvar/321165 ^@ NM_000485.2(APRT):c.162C>T (p.His54=) http://identifiers.org/clinvar/312334 ^@ NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) http://identifiers.org/clinvar/340082 ^@ NM_000071.2(CBS):c.1200_1202delGGA (p.Glu400del) http://identifiers.org/clinvar/340232 ^@ NM_130445.3(COL18A1):c.2031+9C>T http://identifiers.org/clinvar/340332 ^@ NM_001848.2(COL6A1):c.*87C>T http://identifiers.org/clinvar/342172 ^@ NM_005198.4(CHKB):c.722A>G (p.Asn241Ser) http://identifiers.org/clinvar/328556 ^@ NM_000453.2(SLC5A5):c.*276_*277insCTTT http://identifiers.org/clinvar/328856 ^@ NM_004646.3(NPHS1):c.3311+14T>C http://identifiers.org/clinvar/328956 ^@ NM_032753.3(RAX2):c.*689C>T http://identifiers.org/clinvar/368173 ^@ NM_000444.5(PHEX):c.*218A>C http://identifiers.org/clinvar/329006 ^@ NM_000540.2(RYR1):c.3055C>T (p.Arg1019Trp) http://identifiers.org/clinvar/368323 ^@ NM_006915.2(RP2):c.*1947C>G http://identifiers.org/clinvar/329206 ^@ NM_017827.3(SARS2):c.*140C>T http://identifiers.org/clinvar/368423 ^@ NM_007137.3(ZNF81):c.*2549A>G http://identifiers.org/clinvar/329356 ^@ NM_000709.3(BCKDHA):c.-25G>C http://identifiers.org/clinvar/329556 ^@ NM_025136.3(OPA3):c.*6790T>C http://identifiers.org/clinvar/327717 ^@ NM_005912.2(MC4R):c.-66C>T http://identifiers.org/clinvar/368723 ^@ NM_153252.4(BRWD3):c.5130G>T (p.Gly1710=) http://identifiers.org/clinvar/368773 ^@ NM_024921.3(POF1B):c.*584A>C http://identifiers.org/clinvar/328456 ^@ NM_173483.3(CYP4F22):c.*426C>T http://identifiers.org/clinvar/328506 ^@ NM_000215.3(JAK3):c.2097G>A (p.Ala699=) http://identifiers.org/clinvar/328606 ^@ NM_000095.2(COMP):c.*111A>G http://identifiers.org/clinvar/328706 ^@ NM_001031726.3(C19orf12):c.*1145G>A http://identifiers.org/clinvar/328906 ^@ NM_001083961.1(WDR62):c.699+11G>C http://identifiers.org/clinvar/329606 ^@ NM_025136.3(OPA3):c.*4464G>T http://identifiers.org/clinvar/339482 ^@ NM_012469.3(PRPF6):c.2340-11T>C http://identifiers.org/clinvar/339532 ^@ NM_015192.3(PLCB1):c.*964G>T http://identifiers.org/clinvar/339632 ^@ NM_000484.3(APP):c.1810G>A (p.Val604Met) http://identifiers.org/clinvar/339782 ^@ NM_000219.5(KCNE1):c.-375A>G http://identifiers.org/clinvar/330595 ^@ NM_030957.3(ADAMTS10):c.1935G>A (p.Ala645=) http://identifiers.org/clinvar/340382 ^@ NM_001849.3(COL6A2):c.2712G>A (p.Ala904=) http://identifiers.org/clinvar/340633 ^@ NM_014339.6(IL17RA):c.*1014dupA http://identifiers.org/clinvar/340683 ^@ NM_014339.6(IL17RA):c.*3219A>G http://identifiers.org/clinvar/341133 ^@ NM_000268.3(NF2):c.*2039dupG http://identifiers.org/clinvar/341233 ^@ NM_000343.3(SLC5A1):c.-11dupA http://identifiers.org/clinvar/339732 ^@ NM_000219.5(KCNE1):c.*2007C= http://identifiers.org/clinvar/339932 ^@ NM_000411.6(HLCS):c.*1827C>A http://identifiers.org/clinvar/339982 ^@ NM_000411.6(HLCS):c.-433C>T http://identifiers.org/clinvar/386674 ^@ NM_000368.4(TSC1):c.210+16T>G http://identifiers.org/clinvar/380538 ^@ NM_000314.6(PTEN):c.234C>A (p.Thr78=) http://identifiers.org/clinvar/388513 ^@ NM_007327.3(GRIN1):c.1179G>A (p.Gln393=) http://identifiers.org/clinvar/383182 ^@ NM_000077.4(CDKN2A):c.405G>A (p.Gly135=) http://identifiers.org/clinvar/388163 ^@ NM_000535.6(PMS2):c.753G>A (p.Val251=) http://identifiers.org/clinvar/386824 ^@ NM_021926.3(ALX4):c.596C>T (p.Pro199Leu) http://identifiers.org/clinvar/377487 ^@ NM_014391.2(ANKRD1):c.750+17G>A http://identifiers.org/clinvar/388963 ^@ NM_014000.2(VCL):c.582G>A (p.Ser194=) http://identifiers.org/clinvar/379836 ^@ NM_017780.3(CHD7):c.1170T>G (p.Tyr390Ter) http://identifiers.org/clinvar/382832 ^@ NM_002485.4(NBN):c.504A>C (p.Gly168=) http://identifiers.org/clinvar/387913 ^@ NM_001382.3(DPAGT1):c.497-13T>A http://identifiers.org/clinvar/382180 ^@ NM_006231.3(POLE):c.1296A>G (p.Leu432=) http://identifiers.org/clinvar/383683 ^@ NM_000368.4(TSC1):c.2975+4G>C http://identifiers.org/clinvar/381980 ^@ NM_014191.3(SCN8A):c.4359C>T (p.Phe1453=) http://identifiers.org/clinvar/378189 ^@ NM_000256.3(MYBPC3):c.654+17C>T http://identifiers.org/clinvar/382130 ^@ NM_032273.3(TMEM126A):c.54C>T (p.Ser18=) http://identifiers.org/clinvar/386174 ^@ NM_021625.4(TRPV4):c.2226G>A (p.Leu742=) http://identifiers.org/clinvar/380287 ^@ NM_000785.3(CYP27B1):c.305G>A (p.Gly102Glu) http://identifiers.org/clinvar/384384 ^@ NM_020822.2(KCNT1):c.1036-12T>G http://identifiers.org/clinvar/380087 ^@ NM_030813.5(CLPB):c.930A>G (p.Glu310=) http://identifiers.org/clinvar/384434 ^@ NM_015531.5(C2CD3):c.1615C>T (p.His539Tyr) http://identifiers.org/clinvar/382080 ^@ NM_024678.5(NARS2):c.306A>G (p.Pro102=) http://identifiers.org/clinvar/377587 ^@ NM_000059.3(BRCA2):c.*14C>T http://identifiers.org/clinvar/385824 ^@ NM_000719.6(CACNA1C):c.4527-7C>T http://identifiers.org/clinvar/380889 ^@ NM_022489.3(INF2):c.1503C>T (p.Pro501=) http://identifiers.org/clinvar/386024 ^@ NM_004990.3(MARS):c.1194C>T (p.Asp398=) http://identifiers.org/clinvar/389163 ^@ NM_020987.4(ANK3):c.3917T>G (p.Ile1306Arg) http://identifiers.org/clinvar/378239 ^@ NM_018838.4(NDUFA12):c.333G>A (p.Thr111=) http://identifiers.org/clinvar/389013 ^@ NM_000282.3(PCCA):c.637+18C>T http://identifiers.org/clinvar/390752 ^@ NM_000257.3(MYH7):c.1917G>A (p.Lys639=) http://identifiers.org/clinvar/384084 ^@ NM_000138.4(FBN1):c.1327+12A>G http://identifiers.org/clinvar/377687 ^@ NM_001042432.1(CLN3):c.1135C>T (p.Leu379=) http://identifiers.org/clinvar/383784 ^@ NM_020778.4(ALPK3):c.1935G>A (p.Gly645=) http://identifiers.org/clinvar/382782 ^@ NM_019109.4(ALG1):c.390+13C>A http://identifiers.org/clinvar/386324 ^@ NM_004360.4(CDH1):c.49-11C>G http://identifiers.org/clinvar/377637 ^@ NM_004360.4(CDH1):c.462A>G (p.Arg154=) http://identifiers.org/clinvar/377436 ^@ NM_005159.4(ACTC1):c.455-7C>T http://identifiers.org/clinvar/388363 ^@ NM_152594.2(SPRED1):c.594T>C (p.Gly198=) http://identifiers.org/clinvar/382732 ^@ NM_001271.3(CHD2):c.2973+4A>G http://identifiers.org/clinvar/386424 ^@ NM_006231.3(POLE):c.5484A>G (p.Pro1828=) http://identifiers.org/clinvar/379937 ^@ NM_000126.3(ETFA):c.985A>C (p.Ile329Leu) http://identifiers.org/clinvar/383934 ^@ NM_006231.3(POLE):c.3763T>C (p.Leu1255=) http://identifiers.org/clinvar/386524 ^@ NM_020778.4(ALPK3):c.3136C>T (p.Pro1046Ser) http://identifiers.org/clinvar/387124 ^@ NM_001009944.2(PKD1):c.10325C>T (p.Ala3442Val) http://identifiers.org/clinvar/47439 ^@ NM_133378.4(TTN):c.76849C>T (p.Arg25617Ter) http://identifiers.org/clinvar/47489 ^@ NM_133378.4(TTN):c.81722G>A (p.Arg27241Gln) http://identifiers.org/clinvar/47539 ^@ NM_133378.4(TTN):c.86342G>A (p.Arg28781His) http://identifiers.org/clinvar/47589 ^@ NM_133378.4(TTN):c.90056G>C (p.Arg30019Pro) http://identifiers.org/clinvar/47639 ^@ NM_133378.4(TTN):c.93961G>A (p.Val31321Ile) http://identifiers.org/clinvar/47689 ^@ NM_133378.4(TTN):c.97680A>G (p.Ala32560=) http://identifiers.org/clinvar/47739 ^@ NM_133379.4(TTN):c.11757C>G (p.Phe3919Leu) http://identifiers.org/clinvar/47789 ^@ NM_001256850.1(TTN):c.10361-4553A>G http://identifiers.org/clinvar/47839 ^@ NM_133378.4(TTN):c.10361-1167G>A http://identifiers.org/clinvar/47889 ^@ NM_144573.3(NEXN):c.1368A>C (p.Gly456=) http://identifiers.org/clinvar/47939 ^@ NM_144612.6(LOXHD1):c.4680C>T (p.Cys1560=) http://identifiers.org/clinvar/47989 ^@ NM_005709.3(USH1C):c.1285-2729T>C http://identifiers.org/clinvar/48041 ^@ NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) http://identifiers.org/clinvar/48091 ^@ NM_005572.3(LMNA):c.986G>A (p.Arg329His) http://identifiers.org/clinvar/48141 ^@ NM_001195794.1(CLRN1):c.*5C>T http://identifiers.org/clinvar/48191 ^@ NM_194322.2(OTOF):c.62C>T (p.Pro21Leu) http://identifiers.org/clinvar/48241 ^@ NM_194248.2(OTOF):c.4822G>T (p.Asp1608Tyr) http://identifiers.org/clinvar/48291 ^@ NM_000335.4(SCN5A):c.1756_1761delGCCCTC (p.Ala586_Leu587del) http://identifiers.org/clinvar/48342 ^@ NM_206933.2(USH2A):c.1000C>G (p.Arg334Gly) http://identifiers.org/clinvar/48392 ^@ NM_206933.2(USH2A):c.12295-2A>G http://identifiers.org/clinvar/48442 ^@ NM_206933.2(USH2A):c.14519T>C (p.Leu4840Pro) http://identifiers.org/clinvar/48492 ^@ NM_206933.2(USH2A):c.2829C>A (p.Gly943=) http://identifiers.org/clinvar/218 ^@ NM_000285.3(PEPD):c.605C>T (p.Ser202Phe) http://identifiers.org/clinvar/291 ^@ NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln) http://identifiers.org/clinvar/300 ^@ NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser) http://identifiers.org/clinvar/443 ^@ NM_005581.4(BCAM):c.361C>T (p.Arg121Ter) http://identifiers.org/clinvar/493 ^@ QDPR, IVS3, A-G, 152-BP INS http://identifiers.org/clinvar/525 ^@ NM_001999.3(FBN2):c.3343G>C (p.Asp1115His) http://identifiers.org/clinvar/826 ^@ NM_000038.5(APC):c.1311_1312+1delAAG http://identifiers.org/clinvar/987 ^@ NM_017774.3(CDKAL1):c.371+30101A>G http://identifiers.org/clinvar/1072 ^@ NM_001127897.3(RPGRIP1L):c.394A>T (p.Arg132Ter) http://identifiers.org/clinvar/1081 ^@ NM_058179.3(PSAT1):c.107delG (p.Gly36Alafs) http://identifiers.org/clinvar/1179 ^@ NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) http://identifiers.org/clinvar/1223 ^@ NM_006363.4(SEC23B):c.40C>T (p.Arg14Trp) http://identifiers.org/clinvar/1274 ^@ NM_173660.4(DOK7):c.1263dupC (p.Ser422Leufs) http://identifiers.org/clinvar/1998 ^@ NM_199242.2(UNC13D):c.1754dupT (p.His586Profs) http://identifiers.org/clinvar/2041 ^@ NM_032146.5(ARL6):c.506G>C (p.Gly169Ala) http://identifiers.org/clinvar/2087 ^@ GCDH, IVS1, G-T, +5 http://identifiers.org/clinvar/2132 ^@ SLC39A13, 9-BP DEL, NT483 http://identifiers.org/clinvar/2360 ^@ NM_206933.2(USH2A):c.240_241insGATC (p.Gln81Aspfs) http://identifiers.org/clinvar/2451 ^@ NM_000434.3(NEU1):c.87G>A (p.Trp29Ter) http://identifiers.org/clinvar/2498 ^@ NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) http://identifiers.org/clinvar/2544 ^@ NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) http://identifiers.org/clinvar/2591 ^@ NM_198586.2(NHLRC1):c.593T>A (p.Ile198Asn) http://identifiers.org/clinvar/2637 ^@ NM_153240.4(NPHP3):c.2918G>A (p.Arg973Gln) http://identifiers.org/clinvar/2682 ^@ CCM2, IVS5, G-A, -1 http://identifiers.org/clinvar/2729 ^@ NM_004183.3(BEST1):c.896G>A (p.Gly299Glu) http://identifiers.org/clinvar/2774 ^@ NM_024312.4(GNPTAB):c.10A>C (p.Lys4Gln) http://identifiers.org/clinvar/2819 ^@ NM_017890.4(VPS13B):c.6578T>G (p.Leu2193Arg) http://identifiers.org/clinvar/2864 ^@ NM_173076.2(ABCA12):c.986-?_1061+?del (p.Asp330_Gln354delinsSerfs) http://identifiers.org/clinvar/2955 ^@ XDH, 1-BP DEL, 2567C http://identifiers.org/clinvar/3049 ^@ NM_000487.5(ARSA):c.*96A>G http://identifiers.org/clinvar/3095 ^@ NM_052845.3(MMAB):c.556C>T (p.Arg186Trp) http://identifiers.org/clinvar/3148 ^@ NM_000218.2(KCNQ1):c.919G>C (p.Val307Leu) http://identifiers.org/clinvar/3195 ^@ NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) http://identifiers.org/clinvar/3241 ^@ NM_007171.3(POMT1):c.1260_1262delCCT (p.Leu421del) http://identifiers.org/clinvar/3289 ^@ NM_000268.3(NF2):c.544G>T (p.Glu182Ter) http://identifiers.org/clinvar/3333 ^@ GABABR2, HAPLOTYPE, CACA (rs1435252, rs3780422, rs2779562, rs3750344) http://identifiers.org/clinvar/10398 ^@ NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) http://identifiers.org/clinvar/10445 ^@ GJB1, -528T-G http://identifiers.org/clinvar/10493 ^@ NM_000202.7(IDS):c.1264T>G (p.Cys422Gly) http://identifiers.org/clinvar/10539 ^@ NM_000292.2(PHKA2):c.750_752delGAC (p.Thr251del) http://identifiers.org/clinvar/10584 ^@ NM_000133.3(F9):c.571C>T (p.Arg191Cys) http://identifiers.org/clinvar/10629 ^@ NM_000133.3(F9):c.1369A>T (p.Lys457Ter) http://identifiers.org/clinvar/10675 ^@ FAM58A, IVS4, G-A, -1 http://identifiers.org/clinvar/10765 ^@ NM_000169.2(GLA):c.1147_1149delTTC (p.Phe383del) http://identifiers.org/clinvar/10855 ^@ NM_000054.4(AVPR2):c.410G>T (p.Arg137Leu) http://identifiers.org/clinvar/10900 ^@ SH2D1A, 159-BP DEL http://identifiers.org/clinvar/10946 ^@ NM_001205019.1(GK):c.1525T>C (p.Trp509Arg) http://identifiers.org/clinvar/10992 ^@ NM_000531.5(OTC):c.134T>C (p.Leu45Pro) http://identifiers.org/clinvar/11036 ^@ NM_001399.4(EDA):c.466C>T (p.Arg156Cys) http://identifiers.org/clinvar/11081 ^@ NM_001128834.2(PLP1):c.607G>C (p.Asp203His) http://identifiers.org/clinvar/11126 ^@ NM_000377.2(WAS):c.173C>G (p.Pro58Arg) http://identifiers.org/clinvar/11172 ^@ NM_000117.2(EMD):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/11217 ^@ DMD, AG-T, EX48 http://identifiers.org/clinvar/11262 ^@ DMD, 17-BP DEL, NT6982 http://identifiers.org/clinvar/11307 ^@ NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp) http://identifiers.org/clinvar/11353 ^@ NM_000061.2(BTK):c.141+3_141+4del http://identifiers.org/clinvar/11399 ^@ UPF3B, 2-BP DEL, 867AG http://identifiers.org/clinvar/11409 ^@ NM_014009.3(FOXP3):c.1112T>G (p.Phe371Cys) http://identifiers.org/clinvar/11459 ^@ IKBKG, 4.4-KB DUP http://identifiers.org/clinvar/11510 ^@ NM_001011658.3(TRAPPC2):c.271_275delCAAGA (p.Gln91Argfs) http://identifiers.org/clinvar/11561 ^@ NM_001159702.2(FHL1):c.368A>T (p.His123Leu) http://identifiers.org/clinvar/11611 ^@ NM_005491.4(MAMLD1):c.589G>T (p.Glu197Ter) http://identifiers.org/clinvar/11661 ^@ RPS6KA3, IVS6, A-G, +3 http://identifiers.org/clinvar/11712 ^@ NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) http://identifiers.org/clinvar/11763 ^@ FLNA, 1-BP DEL, 2762G http://identifiers.org/clinvar/11814 ^@ NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) http://identifiers.org/clinvar/11864 ^@ MYO7A, 3-BP DEL, 5146GAG http://identifiers.org/clinvar/11914 ^@ NM_000203.4(IDUA):c.192C>A (p.Tyr64Ter) http://identifiers.org/clinvar/11964 ^@ NM_000108.4(DLD):c.214A>G (p.Lys72Glu) http://identifiers.org/clinvar/12016 ^@ NM_000532.4(PCCB):c.1283C>T (p.Thr428Ile) http://identifiers.org/clinvar/12066 ^@ F10, GLY249ARG http://identifiers.org/clinvar/12116 ^@ C6, 1-BP DEL, 1195C http://identifiers.org/clinvar/12169 ^@ NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) http://identifiers.org/clinvar/12221 ^@ NM_000490.4(AVP):c.61T>C (p.Tyr21His) http://identifiers.org/clinvar/12272 ^@ NM_000463.2(UGT1A1):c.923G>A (p.Gly308Glu) http://identifiers.org/clinvar/12324 ^@ NM_199292.2(TH):c.1234C>A (p.Gln412Lys) http://identifiers.org/clinvar/12375 ^@ NM_000546.5(TP53):c.1031T>C (p.Leu344Pro) http://identifiers.org/clinvar/12426 ^@ NM_000363.4(TNNI3):c.433C>T (p.Arg145Trp) http://identifiers.org/clinvar/12477 ^@ NM_017617.4(NOTCH1):c.4512delC (p.Cys1505Valfs) http://identifiers.org/clinvar/12527 ^@ NM_004612.3(TGFBR1):c.521G>T (p.Gly174Val) http://identifiers.org/clinvar/12577 ^@ NM_002467.4(MYC):c.220C>G (p.Pro74Ala) http://identifiers.org/clinvar/12628 ^@ NM_007313.2(ABL1):c.988T>C (p.Phe330Leu) http://identifiers.org/clinvar/12678 ^@ NM_000362.4(TIMP3):c.536C>G (p.Ser179Cys) http://identifiers.org/clinvar/12730 ^@ NM_198253.2(TERT):c.1234C>T (p.His412Tyr) http://identifiers.org/clinvar/12780 ^@ SDHB, 1-BP DEL, 725C http://identifiers.org/clinvar/12830 ^@ SPTB, BETA-IV DOMAIN http://identifiers.org/clinvar/13483 ^@ NM_000217.2(KCNA1):c.745T>A (p.Phe249Ile) http://identifiers.org/clinvar/13533 ^@ NM_000174.4(GP9):c.70T>C (p.Cys24Arg) http://identifiers.org/clinvar/36668 ^@ NM_174936.3(PCSK9):c.1504-16C>T http://identifiers.org/clinvar/37711 ^@ NM_007294.3(BRCA1):c.956A>G (p.Asn319Ser) http://identifiers.org/clinvar/37762 ^@ NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) http://identifiers.org/clinvar/37815 ^@ NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) http://identifiers.org/clinvar/37867 ^@ NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter) http://identifiers.org/clinvar/37920 ^@ NM_000059.3(BRCA2):c.4741G>A (p.Glu1581Lys) http://identifiers.org/clinvar/37974 ^@ NM_000059.3(BRCA2):c.5575A>G (p.Ile1859Val) http://identifiers.org/clinvar/38129 ^@ NM_000059.3(BRCA2):c.7974C>G (p.Tyr2658Ter) http://identifiers.org/clinvar/38179 ^@ NM_000059.3(BRCA2):c.8695C>T (p.Gln2899Ter) http://identifiers.org/clinvar/38229 ^@ NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) http://identifiers.org/clinvar/38285 ^@ NM_000155.3(GALT):c.163G>T (p.Gly55Cys) http://identifiers.org/clinvar/38484 ^@ NM_000060.4(BTD):c.245C>A (p.Ala82Asp) http://identifiers.org/clinvar/38346 ^@ NM_002437.4(MPV17):c.116_141del26 (p.Arg41Profs) http://identifiers.org/clinvar/38402 ^@ NM_014252.3(SLC25A15):c.818T>A (p.Met273Lys) http://identifiers.org/clinvar/38635 ^@ NM_005332.2(HBZ):c.330_*22601del http://identifiers.org/clinvar/38781 ^@ NM_000495.3:c.4253_4262del;4263_4280dup http://identifiers.org/clinvar/38905 ^@ NM_001007026.1(ATN1):c.1462_1464CAG(90_93) (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnG...(Total 258)) http://identifiers.org/clinvar/38955 ^@ NM_001363.4(DKC1):c.941A>G (p.Lys314Arg) http://identifiers.org/clinvar/39007 ^@ NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280] http://identifiers.org/clinvar/39057 ^@ NM_024312.4(GNPTAB):c.2693dupA (p.Tyr899Valfs) http://identifiers.org/clinvar/39111 ^@ NM_198253.2(TERT):c.2177C>T (p.Thr726Met) http://identifiers.org/clinvar/39164 ^@ NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=) http://identifiers.org/clinvar/39214 ^@ NM_198578.3(LRRK2):c.5610G>T (p.Leu1870Phe) http://identifiers.org/clinvar/39265 ^@ NM_207352.3(CYP4V2):c.400G>T (p.Gly134Ter) http://identifiers.org/clinvar/39426 ^@ NM_004069.4(AP2S1):c.44G>A (p.Arg15His) http://identifiers.org/clinvar/39478 ^@ NM_001567.3(INPPL1):c.278_282delAGACC (p.Gln93Profs) http://identifiers.org/clinvar/39529 ^@ NM_000359.2(TGM1):c.943C>T (p.Arg315Cys) http://identifiers.org/clinvar/39579 ^@ NM_003647.2(DGKE):c.610delA (p.Thr204Glnfs) http://identifiers.org/clinvar/39631 ^@ CHD8, 4-BP DEL, CTTC http://identifiers.org/clinvar/39733 ^@ AAGAB, ARG124TER http://identifiers.org/clinvar/39784 ^@ NM_003036.3(SKI):c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del) http://identifiers.org/clinvar/39835 ^@ NM_002496.3(NDUFS8):c.187G>C (p.Glu63Gln) http://identifiers.org/clinvar/39978 ^@ NM_006662.2(SRCAP):c.7863dupG (p.Gln2622Alafs) http://identifiers.org/clinvar/40090 ^@ NM_000280.4(PAX6):c.112C>T (p.Arg38Trp) http://identifiers.org/clinvar/40242 ^@ NG_009815.1:g.19647-?_28496+?dup http://identifiers.org/clinvar/242673 ^@ NM_003977.3(AIP):c.878_879delAGinsGT (p.Glu293Gly) http://identifiers.org/clinvar/52137 ^@ NM_000059.3(BRCA2):c.6629_6630delAA (p.Glu2210Glyfs) http://identifiers.org/clinvar/52188 ^@ NM_000059.3(BRCA2):c.68-7delT http://identifiers.org/clinvar/52239 ^@ NM_000059.3(BRCA2):c.7007+5G>A http://identifiers.org/clinvar/52290 ^@ NM_000059.3(BRCA2):c.7218T>G (p.Phe2406Leu) http://identifiers.org/clinvar/52340 ^@ NM_000059.3(BRCA2):c.7474_7475delGA (p.Asp2492Tyrfs) http://identifiers.org/clinvar/52390 ^@ NM_000059.3(BRCA2):c.7697dupA (p.Asp2566Glufs) http://identifiers.org/clinvar/52441 ^@ NM_000059.3(BRCA2):c.794-11T>C http://identifiers.org/clinvar/52491 ^@ NM_000059.3(BRCA2):c.8059G>T (p.Val2687Phe) http://identifiers.org/clinvar/52541 ^@ NM_000059.3(BRCA2):c.8298_8299dupAC (p.Pro2767Hisfs) http://identifiers.org/clinvar/52592 ^@ NM_000059.3(BRCA2):c.8452G>A (p.Val2818Ile) http://identifiers.org/clinvar/52643 ^@ NM_000059.3(BRCA2):c.8633-26A>G http://identifiers.org/clinvar/52694 ^@ NM_000059.3(BRCA2):c.8878C>T (p.Gln2960Ter) http://identifiers.org/clinvar/52744 ^@ NM_000059.3(BRCA2):c.9086C>T (p.Ala3029Val) http://identifiers.org/clinvar/52796 ^@ NM_000059.3(BRCA2):c.9263C>T (p.Ala3088Val) http://identifiers.org/clinvar/52847 ^@ NM_000059.3(BRCA2):c.9477C>A (p.Phe3159Leu) http://identifiers.org/clinvar/52897 ^@ NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) http://identifiers.org/clinvar/52947 ^@ NM_000218.2(KCNQ1):c.1066_1071delCAGCAG (p.Gln356_Gln357del) http://identifiers.org/clinvar/52997 ^@ NM_000218.2(KCNQ1):c.1608C>A (p.Tyr536Ter) http://identifiers.org/clinvar/53047 ^@ NM_000218.2(KCNQ1):c.477+5G>A http://identifiers.org/clinvar/53097 ^@ NM_000218.2(KCNQ1):c.760_768delGTGGTCTTC (p.Val254_Phe256del) http://identifiers.org/clinvar/53148 ^@ NM_000218.2(KCNQ1):c.959C>A (p.Pro320His) http://identifiers.org/clinvar/53201 ^@ NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser) http://identifiers.org/clinvar/53253 ^@ NM_000492.3(CFTR):c.1435G>T (p.Glu479Ter) http://identifiers.org/clinvar/53304 ^@ NM_000492.3(CFTR):c.164+1G>C http://identifiers.org/clinvar/53354 ^@ NM_000492.3(CFTR):c.1707T>A (p.Tyr569Ter) http://identifiers.org/clinvar/55683 ^@ NM_007294.3(BRCA1):c.737delT (p.Leu246Terfs) http://identifiers.org/clinvar/55735 ^@ NM_007294.3(BRCA1):c.844_850dupTCATTAC (p.Gln284Leufs) http://identifiers.org/clinvar/55796 ^@ NM_005188.3(CBL):c.1095+19G>T http://identifiers.org/clinvar/55863 ^@ NM_175876.4(EXOC8):c.794A>G (p.Glu265Gly) http://identifiers.org/clinvar/55942 ^@ NM_000027.3(AGA):c.346C>T (p.Arg116Trp) http://identifiers.org/clinvar/55993 ^@ NM_000111.2(SLC26A3):c.2205+3A>G http://identifiers.org/clinvar/56046 ^@ NM_000170.2(GLDC):c.1595C>G (p.Thr532Arg) http://identifiers.org/clinvar/56097 ^@ NM_000170.2(GLDC):c.457G>T (p.Glu153Ter) http://identifiers.org/clinvar/56151 ^@ NM_000243.2(MEFV):c.688G>C (p.Glu230Gln) http://identifiers.org/clinvar/56202 ^@ NM_000310.3(PPT1):c.541G>T (p.Val181Leu) http://identifiers.org/clinvar/56253 ^@ NM_001042432.1(CLN3):c.125+5G>A http://identifiers.org/clinvar/56303 ^@ NM_001080522.2(CC2D2A):c.3289delG (p.Val1097Phefs) http://identifiers.org/clinvar/56355 ^@ NM_001126105.2(SLC7A7):c.1344delC (p.Ile449Leufs) http://identifiers.org/clinvar/56407 ^@ NM_004260.3(RECQL4):c.3072delA (p.Val1026Cysfs) http://identifiers.org/clinvar/56457 ^@ NM_004646.3(NPHS1):c.1954C>T (p.Gln652Ter) http://identifiers.org/clinvar/56507 ^@ NM_004646.3(NPHS1):c.500C>T (p.Pro167Leu) http://identifiers.org/clinvar/56558 ^@ NM_012434.4(SLC17A5):c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del) http://identifiers.org/clinvar/56613 ^@ NM_017777.3(MKS1):c.1048C>G (p.Gln350Glu) http://identifiers.org/clinvar/56666 ^@ NM_017890.4(VPS13B):c.4480_4482delCTT (p.Leu1494del) http://identifiers.org/clinvar/57292 ^@ GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1 http://identifiers.org/clinvar/101164 ^@ NM_000090.3(COL3A1):c.3491G>T (p.Gly1164Val) http://identifiers.org/clinvar/101214 ^@ NM_000090.3(COL3A1):c.2553+1delG (p.Gly816_Ala851del) http://identifiers.org/clinvar/101264 ^@ NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp) http://identifiers.org/clinvar/101314 ^@ NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del) http://identifiers.org/clinvar/101364 ^@ NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu) http://identifiers.org/clinvar/102992 ^@ NM_000246.3(CIITA):c.1007-94A>G http://identifiers.org/clinvar/103042 ^@ NM_004895.4(NLRP3):c.3088dupG (p.Val1030Glyfs) http://identifiers.org/clinvar/103092 ^@ NM_006092.2(NOD1):c.1492delC (p.Leu498Cysfs) http://identifiers.org/clinvar/103142 ^@ NM_024618.3(NLRX1):c.2355-79G>A http://identifiers.org/clinvar/103192 ^@ NM_032206.4(NLRC5):c.424+276C>T http://identifiers.org/clinvar/103242 ^@ NM_138329.2(NLRP6):c.2541-87G>A http://identifiers.org/clinvar/103292 ^@ NM_153447.4(NLRP5):c.3299+30C>T http://identifiers.org/clinvar/103342 ^@ NM_176822.3(NLRP14):c.1976C>T (p.Thr659Ile) http://identifiers.org/clinvar/111216 ^@ NM_000416.2(IFNGR1):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/111266 ^@ NM_003263.3(TLR1):c.224T>C (p.Ile75Thr) http://identifiers.org/clinvar/120228 ^@ NM_017637.5(BNC2):c.1240C>G (p.Leu414Val) http://identifiers.org/clinvar/120278 ^@ NM_000277.1(PAH):c.547_548delGAinsTT (p.Glu183Leu) http://identifiers.org/clinvar/120328 ^@ NM_019040.4(ELP4):c.1143+14176C>A http://identifiers.org/clinvar/125497 ^@ U14680.1:n.1506AtoGinsG http://identifiers.org/clinvar/125568 ^@ NM_007294.3(BRCA1):c.2438dupG (p.Leu814Thrfs) http://identifiers.org/clinvar/125657 ^@ NM_007294.3(BRCA1):c.3867_3871delAAAAT (p.Lys1290Phefs) http://identifiers.org/clinvar/125718 ^@ NM_007294.3(BRCA1):c.4485-90T>C http://identifiers.org/clinvar/125788 ^@ U14680.1:n.5272-42C>A http://identifiers.org/clinvar/125857 ^@ NM_007294.3(BRCA1):c.5468-40T>A http://identifiers.org/clinvar/125919 ^@ U14680.1:n.A>G http://identifiers.org/clinvar/125982 ^@ U43746.1:n.2699_2704delAAATGA http://identifiers.org/clinvar/126046 ^@ NM_000059.3(BRCA2):c.4535G>C (p.Arg1512Pro) http://identifiers.org/clinvar/126120 ^@ NM_000059.3(BRCA2):c.6841+73C>A http://identifiers.org/clinvar/126178 ^@ NM_000059.3(BRCA2):c.8487+19A>G http://identifiers.org/clinvar/126241 ^@ NM_001080522.2(CC2D2A):c.3595-22C>T http://identifiers.org/clinvar/126291 ^@ NM_024809.4(TCTN2):c.83-4C>T http://identifiers.org/clinvar/126342 ^@ NM_003070.4(SMARCA2):c.1122C>G (p.Thr374=) http://identifiers.org/clinvar/127429 ^@ NM_000051.3(ATM):c.68G>A (p.Arg23Gln) http://identifiers.org/clinvar/178117 ^@ NM_001035.2(RYR2):c.2755G>A (p.Val919Met) http://identifiers.org/clinvar/179775 ^@ NM_001035.2(RYR2):c.1005+13A>G http://identifiers.org/clinvar/179675 ^@ NM_001035.2(RYR2):c.2805G>A (p.Met935Ile) http://identifiers.org/clinvar/163494 ^@ NM_201557.3(FHL2):c.81C>A (p.Tyr27Ter) http://identifiers.org/clinvar/165887 ^@ NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) http://identifiers.org/clinvar/179625 ^@ NM_133378.4(TTN):c.57571+13G>T http://identifiers.org/clinvar/166450 ^@ NM_206933.2(USH2A):c.10740+7G>C http://identifiers.org/clinvar/179725 ^@ NM_133378.4(TTN):c.88831G>A (p.Val29611Met) http://identifiers.org/clinvar/178167 ^@ NM_133378.4(TTN):c.83082C>T (p.Ile27694=) http://identifiers.org/clinvar/165761 ^@ NM_133378.4(TTN):c.81314G>A (p.Arg27105Gln) http://identifiers.org/clinvar/178217 ^@ NM_001256850.1(TTN):c.39358C>T (p.Pro13120Ser) http://identifiers.org/clinvar/166082 ^@ NM_001256850.1(TTN):c.35057A>G (p.Glu11686Gly) http://identifiers.org/clinvar/166279 ^@ NM_133379.4(TTN):c.11066delT (p.Val3689Glufs) http://identifiers.org/clinvar/178886 ^@ NM_001256850.1(TTN):c.25512C>T (p.Phe8504=) http://identifiers.org/clinvar/179925 ^@ NM_133378.4(TTN):c.16410C>T (p.Tyr5470=) http://identifiers.org/clinvar/166229 ^@ NM_133432.3(TTN):c.13079delG (p.Gly4360Valfs) http://identifiers.org/clinvar/177966 ^@ NM_001256850.1(TTN):c.10360+3792A>G http://identifiers.org/clinvar/178267 ^@ NM_133378.4(TTN):c.9683C>G (p.Ser3228Cys) http://identifiers.org/clinvar/166329 ^@ NM_133378.4(TTN):c.3476G>A (p.Arg1159His) http://identifiers.org/clinvar/164835 ^@ NM_194248.2(OTOF):c.5203delC (p.Arg1735Glyfs) http://identifiers.org/clinvar/165973 ^@ NM_133378.4(TTN):c.47108T>G (p.Phe15703Cys) http://identifiers.org/clinvar/192165 ^@ NM_133378.4(TTN):c.45418A>G (p.Lys15140Glu) http://identifiers.org/clinvar/164943 ^@ NM_003924.3(PHOX2B):c.870C>A (p.Pro290=) http://identifiers.org/clinvar/178735 ^@ NM_001277115.1(DNAH11):c.12493A>G (p.Met4165Val) http://identifiers.org/clinvar/179875 ^@ NM_000601.5(HGF):c.1041-12T>C http://identifiers.org/clinvar/177765 ^@ NM_005228.4(EGFR):c.2239_2247delTTAAGAGAA (p.Leu747_Glu749del) http://identifiers.org/clinvar/178835 ^@ NM_000337.5(SGCD):c.-148_-122del27 http://identifiers.org/clinvar/165227 ^@ NM_172244.2(SGCD):c.-41A>T http://identifiers.org/clinvar/163597 ^@ NM_032119.3(ADGRV1):c.10936T>C (p.Ser3646Pro) http://identifiers.org/clinvar/178367 ^@ NM_032119.3(ADGRV1):c.12527+6G>T http://identifiers.org/clinvar/198412 ^@ NM_000284.3(PDHA1):c.628A>G (p.Met210Val) http://identifiers.org/clinvar/198462 ^@ NM_001199799.1(ILDR1):c.1292G>A (p.Arg431His) http://identifiers.org/clinvar/198777 ^@ NM_001854.3(COL11A1):c.1021G>C (p.Glu341Gln) http://identifiers.org/clinvar/198828 ^@ NM_005477.2(HCN4):c.2273G>A (p.Arg758His) http://identifiers.org/clinvar/198884 ^@ NM_001123383.1(BCOR):c.3609G>A (p.Val1203=) http://identifiers.org/clinvar/198937 ^@ NM_207346.2(TSEN54):c.914A>G (p.Asn305Ser) http://identifiers.org/clinvar/198988 ^@ NM_000071.2(CBS):c.785C>T (p.Thr262Met) http://identifiers.org/clinvar/199039 ^@ NM_000751.2(CHRND):c.962C>T (p.Thr321Ile) http://identifiers.org/clinvar/199092 ^@ NM_004369.3(COL6A3):c.4117G>A (p.Ala1373Thr) http://identifiers.org/clinvar/199144 ^@ NM_015243.2(VPS13B):c.1296A>G (p.Thr432=) http://identifiers.org/clinvar/199195 ^@ NM_181714.3(LCA5):c.2026G>T (p.Asp676Tyr) http://identifiers.org/clinvar/199250 ^@ NM_001271208.1(NEB):c.19544G>A (p.Arg6515His) http://identifiers.org/clinvar/200944 ^@ NM_170707.3(LMNA):c.1560G>A (p.Trp520Ter) http://identifiers.org/clinvar/199699 ^@ NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) http://identifiers.org/clinvar/199753 ^@ NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) http://identifiers.org/clinvar/199860 ^@ NM_004415.3(DSP):c.1426G>A (p.Val476Met) http://identifiers.org/clinvar/199919 ^@ NM_004415.3(DSP):c.3419delA (p.Asp1140Alafs) http://identifiers.org/clinvar/200486 ^@ NM_000238.3(KCNH2):c.2719G>A (p.Ala907Thr) http://identifiers.org/clinvar/200735 ^@ NM_000238.3(KCNH2):c.1694C>T (p.Ala565Val) http://identifiers.org/clinvar/200626 ^@ NM_000238.3(KCNH2):c.1132dupC (p.Leu378Profs) http://identifiers.org/clinvar/200883 ^@ NM_000218.2(KCNQ1):c.919_921+9delGTGGTAAGTCGG http://identifiers.org/clinvar/200829 ^@ NM_000218.2(KCNQ1):c.962A>C (p.Gln321Pro) http://identifiers.org/clinvar/201020 ^@ NM_130799.2(MEN1):c.1110delT (p.Asp370Glufs) http://identifiers.org/clinvar/200087 ^@ NM_000138.4(FBN1):c.6496G>A (p.Asp2166Asn) http://identifiers.org/clinvar/200033 ^@ NM_000138.4(FBN1):c.4062G>A (p.Trp1354Ter) http://identifiers.org/clinvar/199977 ^@ NM_000138.4(FBN1):c.1726T>G (p.Cys576Gly) http://identifiers.org/clinvar/200148 ^@ NM_000138.4(FBN1):c.1624_1634delAATAATGGACG (p.Asn542Leufs) http://identifiers.org/clinvar/200203 ^@ NM_000138.4(FBN1):c.466A>G (p.Asn156Asp) http://identifiers.org/clinvar/201073 ^@ NM_002474.2(MYH11):c.4240G>A (p.Ala1414Thr) http://identifiers.org/clinvar/199809 ^@ NM_001943.4(DSG2):c.1555G>T (p.Asp519Tyr) http://identifiers.org/clinvar/202134 ^@ NM_024334.2(TMEM43):c.509C>G (p.Pro170Arg) http://identifiers.org/clinvar/202076 ^@ NM_001134363.2(RBM20):c.42C>G (p.Ser14Arg) http://identifiers.org/clinvar/201906 ^@ NM_006393.2(NEBL):c.75_77delAGA (p.Glu25del) http://identifiers.org/clinvar/201851 ^@ NM_007078.2(LDB3):c.1573G>C (p.Gly525Arg) http://identifiers.org/clinvar/201959 ^@ NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) http://identifiers.org/clinvar/202018 ^@ NM_004572.3(PKP2):c.1579delC (p.Leu527Terfs) http://identifiers.org/clinvar/202239 ^@ NC_000006.11:g.(?_57590853)_(62891976_?)dup http://identifiers.org/clinvar/202418 ^@ NM_001256850.1(TTN):c.78730G>T (p.Glu26244Ter) http://identifiers.org/clinvar/202472 ^@ NM_001256850.1(TTN):c.72723_72739del17insAGA (p.Ile24242Aspfs) http://identifiers.org/clinvar/230961 ^@ NM_000038.5(APC):c.7495G>C (p.Val2499Leu) http://identifiers.org/clinvar/233803 ^@ NM_000038.5(APC):c.8258A>G (p.Glu2753Gly) http://identifiers.org/clinvar/233401 ^@ NM_005732.3(RAD50):c.1545C>A (p.Asp515Glu) http://identifiers.org/clinvar/233201 ^@ NM_005732.3(RAD50):c.3187A>T (p.Asn1063Tyr) http://identifiers.org/clinvar/233601 ^@ NM_005732.3(RAD50):c.3933T>C (p.Val1311=) http://identifiers.org/clinvar/229672 ^@ NM_000535.6(PMS2):c.1674C>T (p.Thr558=) http://identifiers.org/clinvar/233904 ^@ NM_000368.4(TSC1):c.1167A>T (p.Gly389=) http://identifiers.org/clinvar/230911 ^@ NM_000368.4(TSC1):c.208A>G (p.Lys70Glu) http://identifiers.org/clinvar/233954 ^@ NM_004329.2(BMPR1A):c.895A>G (p.Thr299Ala) http://identifiers.org/clinvar/230611 ^@ NM_004329.2(BMPR1A):c.1401C>T (p.Tyr467=) http://identifiers.org/clinvar/230761 ^@ NM_000051.3(ATM):c.564delT (p.Arg189Glufs) http://identifiers.org/clinvar/231311 ^@ NM_000051.3(ATM):c.741T>C (p.Phe247=) http://identifiers.org/clinvar/234054 ^@ NM_000051.3(ATM):c.1402A>G (p.Lys468Glu) http://identifiers.org/clinvar/233351 ^@ NM_000051.3(ATM):c.3155C>T (p.Ala1052Val) http://identifiers.org/clinvar/231011 ^@ NM_000051.3(ATM):c.3510dupA (p.Gln1171Thrfs) http://identifiers.org/clinvar/230811 ^@ NM_000051.3(ATM):c.4612-4T>G http://identifiers.org/clinvar/231111 ^@ NM_000051.3(ATM):c.6764T>G (p.Leu2255Arg) http://identifiers.org/clinvar/229722 ^@ NM_000075.3(CDK4):c.519C>T (p.Pro173=) http://identifiers.org/clinvar/233551 ^@ NM_000059.3(BRCA2):c.711_713delTGA (p.Asp237del) http://identifiers.org/clinvar/230711 ^@ NM_000059.3(BRCA2):c.2029T>G (p.Ser677Ala) http://identifiers.org/clinvar/234204 ^@ NM_000059.3(BRCA2):c.2210C>G (p.Ala737Gly) http://identifiers.org/clinvar/231761 ^@ NM_000059.3(BRCA2):c.2492T>C (p.Val831Ala) http://identifiers.org/clinvar/231511 ^@ NM_000059.3(BRCA2):c.2936T>C (p.Ile979Thr) http://identifiers.org/clinvar/230561 ^@ NM_000059.3(BRCA2):c.9099T>C (p.Thr3033=) http://identifiers.org/clinvar/231611 ^@ NM_000059.3(BRCA2):c.9944A>C (p.Lys3315Thr) http://identifiers.org/clinvar/234154 ^@ NM_002382.4(MAX):c.41A>G (p.Glu14Gly) http://identifiers.org/clinvar/229772 ^@ NM_000548.4(TSC2):c.5037G>A (p.Glu1679=) http://identifiers.org/clinvar/233151 ^@ NM_024675.3(PALB2):c.2274C>T (p.Pro758=) http://identifiers.org/clinvar/233501 ^@ NM_024675.3(PALB2):c.1515C>T (p.Ala505=) http://identifiers.org/clinvar/234104 ^@ NM_024675.3(PALB2):c.595C>T (p.Leu199Phe) http://identifiers.org/clinvar/230511 ^@ NM_001042492.2(NF1):c.8409T>C (p.Pro2803=) http://identifiers.org/clinvar/231161 ^@ NM_002878.3(RAD51D):c.871C>T (p.Arg291Cys) http://identifiers.org/clinvar/231261 ^@ NM_002878.3(RAD51D):c.509T>C (p.Val170Ala) http://identifiers.org/clinvar/233854 ^@ NM_007294.3(BRCA1):c.4333C>A (p.Pro1445Thr) http://identifiers.org/clinvar/230861 ^@ NM_007294.3(BRCA1):c.302-5T>C http://identifiers.org/clinvar/232701 ^@ NM_032043.2(BRIP1):c.3717C>T (p.Ser1239=) http://identifiers.org/clinvar/231061 ^@ NM_032043.2(BRIP1):c.2372A>T (p.Asp791Val) http://identifiers.org/clinvar/231411 ^@ NM_032043.2(BRIP1):c.343C>T (p.Pro115Ser) http://identifiers.org/clinvar/231661 ^@ NM_000546.5(TP53):c.604C>G (p.Arg202Gly) http://identifiers.org/clinvar/230661 ^@ NM_000546.5(TP53):c.370T>G (p.Cys124Gly) http://identifiers.org/clinvar/239450 ^@ NM_003001.3(SDHC):c.241+7A>G http://identifiers.org/clinvar/241490 ^@ NM_024529.4(CDC73):c.1032T>G (p.Val344=) http://identifiers.org/clinvar/239550 ^@ NM_003705.4(SLC25A12):c.1172-10delC http://identifiers.org/clinvar/241940 ^@ NM_145038.4(DRC1):c.36G>C (p.Pro12=) http://identifiers.org/clinvar/239800 ^@ NM_004304.4(ALK):c.2133C>T (p.Ser711=) http://identifiers.org/clinvar/239850 ^@ NM_004304.4(ALK):c.924G>A (p.Gly308=) http://identifiers.org/clinvar/237406 ^@ NM_000251.2(MSH2):c.764G>A (p.Ser255Asn) http://identifiers.org/clinvar/237356 ^@ NM_000251.2(MSH2):c.1077-7A>G http://identifiers.org/clinvar/237155 ^@ NM_000179.2(MSH6):c.2315G>A (p.Arg772Gln) http://identifiers.org/clinvar/237206 ^@ NM_000179.2(MSH6):c.4002-2A>G http://identifiers.org/clinvar/241740 ^@ NM_033084.4(FANCD2):c.986C>G (p.Ala329Gly) http://identifiers.org/clinvar/237757 ^@ NM_000388.3(CASR):c.1608+4G>T http://identifiers.org/clinvar/241390 ^@ NM_021629.3(GNB4):c.771A>G (p.Ala257=) http://identifiers.org/clinvar/237306 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA http://identifiers.org/clinvar/242190 ^@ NM_198056.2(SCN5A):c.1927C>T (p.Leu643=) http://identifiers.org/clinvar/240050 ^@ NM_004656.3(BAP1):c.1729+8T>C http://identifiers.org/clinvar/240351 ^@ NM_006206.4(PDGFRA):c.49+4C>T http://identifiers.org/clinvar/240301 ^@ NM_006206.4(PDGFRA):c.1283C>T (p.Thr428Ile) http://identifiers.org/clinvar/237256 ^@ NM_000222.2(KIT):c.2209G>A (p.Asp737Asn) http://identifiers.org/clinvar/242240 ^@ NM_198253.2(TERT):c.3351C>T (p.Ala1117=) http://identifiers.org/clinvar/239650 ^@ NM_004168.3(SDHA):c.1532T>C (p.Leu511Pro) http://identifiers.org/clinvar/241840 ^@ NM_138694.3(PKHD1):c.11738G>A (p.Arg3913His) http://identifiers.org/clinvar/237857 ^@ NM_000492.3(CFTR):c.4243-7delT http://identifiers.org/clinvar/238946 ^@ NM_001277115.1(DNAH11):c.9783G>C (p.Glu3261Asp) http://identifiers.org/clinvar/257610 ^@ NM_001182.4(ALDH7A1):c.518-12T>G http://identifiers.org/clinvar/258060 ^@ NM_001369.2(DNAH5):c.7753-9C>G http://identifiers.org/clinvar/258010 ^@ NM_001369.2(DNAH5):c.2229T>G (p.Asp743Glu) http://identifiers.org/clinvar/260050 ^@ NM_006846.3(SPINK5):c.2358C>T (p.Leu786=) http://identifiers.org/clinvar/261589 ^@ NM_022455.4(NSD1):c.4966+43G>A http://identifiers.org/clinvar/257360 ^@ NM_001080479.2(ARHGEF28):c.1754G>A (p.Arg585Lys) http://identifiers.org/clinvar/260850 ^@ NM_017651.4(AHI1):c.2623+33G>A http://identifiers.org/clinvar/262189 ^@ NM_033071.3(SYNE1):c.24237+28A>T http://identifiers.org/clinvar/262389 ^@ NM_138694.3(PKHD1):c.1603-28T>C http://identifiers.org/clinvar/260350 ^@ NM_014141.5(CNTNAP2):c.3716-7_3716-6delinsTTTCTG http://identifiers.org/clinvar/257460 ^@ NM_001101426.3(ISPD):c.*34C>G http://identifiers.org/clinvar/257910 ^@ NM_001277115.1(DNAH11):c.555A>G (p.Ser185=) http://identifiers.org/clinvar/257860 ^@ NM_001277115.1(DNAH11):c.12387+20T>A http://identifiers.org/clinvar/258999 ^@ NM_003235.4(TG):c.6395C>T (p.Ser2132Leu) http://identifiers.org/clinvar/259199 ^@ NM_003923.2(FOXH1):c.*20A>G http://identifiers.org/clinvar/260900 ^@ NM_017780.3(CHD7):c.2788G>A (p.Glu930Lys) http://identifiers.org/clinvar/262739 ^@ NM_153704.5(TMEM67):c.*19T>C http://identifiers.org/clinvar/259800 ^@ NM_005592.3(MUSK):c.1323T>C (p.His441=) http://identifiers.org/clinvar/260150 ^@ NM_007171.3(POMT1):c.765+19C>T http://identifiers.org/clinvar/262439 ^@ NM_139025.4(ADAMTS13):c.3045-41G>A http://identifiers.org/clinvar/262539 ^@ NM_144966.5(FREM1):c.4617G>A (p.Ala1539=) http://identifiers.org/clinvar/260200 ^@ NM_012144.3(DNAI1):c.1401+17G>A http://identifiers.org/clinvar/259549 ^@ NM_004817.3(TJP2):c.1057-17A>G http://identifiers.org/clinvar/262839 ^@ NM_173551.4(ANKS6):c.1219+18A>T http://identifiers.org/clinvar/260250 ^@ NM_012330.3(KAT6B):c.6162C>T (p.His2054=) http://identifiers.org/clinvar/261989 ^@ NM_032024.4(C10orf11):c.252C>T (p.Asn84=) http://identifiers.org/clinvar/260800 ^@ NM_016952.4(CDON):c.484G>A (p.Glu162Lys) http://identifiers.org/clinvar/260750 ^@ NM_016569.3(TBX3):c.441C>A (p.Ala147=) http://identifiers.org/clinvar/261789 ^@ NM_024809.4(TCTN2):c.360C>G (p.Leu120=) http://identifiers.org/clinvar/258210 ^@ NM_001844.4(COL2A1):c.1366-11C>T http://identifiers.org/clinvar/259900 ^@ NM_006009.3(TUBA1A):c.227-38C>G http://identifiers.org/clinvar/261839 ^@ NM_025114.3(CEP290):c.2586T>C (p.Asn862=) http://identifiers.org/clinvar/260400 ^@ NM_014363.5(SACS):c.8345C>T (p.Ala2782Val) http://identifiers.org/clinvar/257110 ^@ NM_001024858.2(SPTB):c.4003-12T>C http://identifiers.org/clinvar/259399 ^@ NM_004452.3(ESRRB):c.969C>T (p.Ala323=) http://identifiers.org/clinvar/260300 ^@ NM_013382.5(POMT2):c.334-45T>C http://identifiers.org/clinvar/332545 ^@ NM_003659.3(AGPS):c.*1628C>G http://identifiers.org/clinvar/335686 ^@ NM_004304.4(ALK):c.4648C>G (p.Leu1550Val) http://identifiers.org/clinvar/335036 ^@ NM_002242.4(KCNJ13):c.*1500G>A http://identifiers.org/clinvar/335786 ^@ NM_000379.3(XDH):c.1629C>T (p.Phe543=) http://identifiers.org/clinvar/332695 ^@ NM_133378.4(TTN):c.96288C>G (p.Leu32096=) http://identifiers.org/clinvar/332745 ^@ NM_133378.4(TTN):c.77837A>T (p.Lys25946Met) http://identifiers.org/clinvar/332795 ^@ NM_133378.4(TTN):c.61391A>T (p.His20464Leu) http://identifiers.org/clinvar/335886 ^@ NM_014946.3(SPAST):c.*2658A>T http://identifiers.org/clinvar/335186 ^@ NM_004544.3(NDUFA10):c.*925C>G http://identifiers.org/clinvar/332845 ^@ NM_133378.4(TTN):c.44181G>T (p.Lys14727Asn) http://identifiers.org/clinvar/333295 ^@ NM_007315.3(STAT1):c.-155-11T>A http://identifiers.org/clinvar/335436 ^@ NM_194248.2(OTOF):c.4239A>G (p.Lys1413=) http://identifiers.org/clinvar/333345 ^@ NM_001006657.1(WDR35):c.*1489G>A http://identifiers.org/clinvar/335486 ^@ NM_000221.2(KHK):c.250C>T (p.Arg84Cys) http://identifiers.org/clinvar/333445 ^@ NM_032977.3(CASP10):c.*230G>A http://identifiers.org/clinvar/333145 ^@ NM_000393.4(COL5A2):c.1350A>G (p.Gly450=) http://identifiers.org/clinvar/333645 ^@ NM_001204.6(BMPR2):c.1481C>T (p.Ala494Val) http://identifiers.org/clinvar/336443 ^@ NM_000179.2(MSH6):c.2562G>T (p.Lys854Asn) http://identifiers.org/clinvar/335636 ^@ NM_001029883.2(C2orf71):c.3705G>A (p.Pro1235=) http://identifiers.org/clinvar/336593 ^@ NM_001135659.2(NRXN1):c.-1451_-1446delTTCTTT http://identifiers.org/clinvar/335836 ^@ NM_014946.3(SPAST):c.*11T>C http://identifiers.org/clinvar/336693 ^@ NM_002618.3(PEX13):c.*1652G>A http://identifiers.org/clinvar/336743 ^@ NM_032180.2(FAM161A):c.354G>T (p.Gln118His) http://identifiers.org/clinvar/335936 ^@ NM_000104.3(CYP1B1):c.*975A>G http://identifiers.org/clinvar/333495 ^@ NM_032977.3(CASP10):c.*3513A>G http://identifiers.org/clinvar/336793 ^@ NM_002056.3(GFPT1):c.*5302_*5303dupTC http://identifiers.org/clinvar/333545 ^@ NM_001044385.2(TMEM237):c.*2044T>C http://identifiers.org/clinvar/336943 ^@ NM_003494.3(DYSF):c.370A>G (p.Thr124Ala) http://identifiers.org/clinvar/336493 ^@ NM_000145.3(FSHR):c.219G>A (p.Glu73=) http://identifiers.org/clinvar/336543 ^@ NM_001135659.2(NRXN1):c.3672G>C (p.Gln1224His) http://identifiers.org/clinvar/336843 ^@ NM_002056.3(GFPT1):c.*1986_*1987dupCA http://identifiers.org/clinvar/334586 ^@ NM_003590.4(CUL3):c.*2945G>C http://identifiers.org/clinvar/342533 ^@ NM_198196.2(CD96):c.983A>G (p.Asp328Gly) http://identifiers.org/clinvar/334936 ^@ NM_152383.4(DIS3L2):c.1170C>T (p.Leu390=) http://identifiers.org/clinvar/334686 ^@ NM_000092.4(COL4A4):c.*841G>A http://identifiers.org/clinvar/334786 ^@ NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) http://identifiers.org/clinvar/334986 ^@ NM_000751.2(CHRND):c.*580C>T http://identifiers.org/clinvar/342433 ^@ NM_000551.3(VHL):c.*1347C>A http://identifiers.org/clinvar/335086 ^@ NM_000463.2(UGT1A1):c.*440G>C http://identifiers.org/clinvar/335536 ^@ NM_015636.3(EIF2B4):c.1133C>T (p.Ala378Val) http://identifiers.org/clinvar/335136 ^@ NM_004369.3(COL6A3):c.2027T>G (p.Ile676Ser) http://identifiers.org/clinvar/343422 ^@ NM_001063.3(TF):c.-2A>G http://identifiers.org/clinvar/335586 ^@ NM_001029883.2(C2orf71):c.*2300C>T http://identifiers.org/clinvar/342683 ^@ NM_020754.3(ARHGAP31):c.*466C>T http://identifiers.org/clinvar/335236 ^@ NM_004321.7(KIF1A):c.*1694C>T http://identifiers.org/clinvar/335286 ^@ NM_004321.7(KIF1A):c.75G>C (p.Lys25Asn) http://identifiers.org/clinvar/335336 ^@ NM_152783.4(D2HGDH):c.*410G>A http://identifiers.org/clinvar/335736 ^@ NM_000379.3(XDH):c.*1491A>G http://identifiers.org/clinvar/335386 ^@ NM_000182.4(HADHA):c.560G>C (p.Arg187Thr) http://identifiers.org/clinvar/357378 ^@ NM_138694.3(PKHD1):c.*1789G>A http://identifiers.org/clinvar/354588 ^@ NM_002397.4(MEF2C):c.-19G>A http://identifiers.org/clinvar/354638 ^@ NM_000439.4(PCSK1):c.2137C>T (p.Leu713Phe) http://identifiers.org/clinvar/354688 ^@ NM_005068.2(SIM1):c.-127T>C http://identifiers.org/clinvar/354738 ^@ NM_001491.2(GCNT2):c.*2452G>C http://identifiers.org/clinvar/354838 ^@ NM_007214.4(SEC63):c.*2862A>G http://identifiers.org/clinvar/355088 ^@ NM_000493.3(COL10A1):c.*13delC http://identifiers.org/clinvar/355139 ^@ NM_002667.4(PLN):c.*199T>A http://identifiers.org/clinvar/358517 ^@ NM_000441.1(SLC26A4):c.*1123A>G http://identifiers.org/clinvar/355339 ^@ NM_006208.2(ENPP1):c.1296G>C (p.Lys432Asn) http://identifiers.org/clinvar/358567 ^@ NM_000108.4(DLD):c.267+15delT http://identifiers.org/clinvar/355489 ^@ NM_017651.4(AHI1):c.*396_*397dupTG http://identifiers.org/clinvar/355539 ^@ NM_000288.3(PEX7):c.*257_*258insAGT http://identifiers.org/clinvar/359317 ^@ NM_000238.3(KCNH2):c.77-5C>G http://identifiers.org/clinvar/352049 ^@ NM_000112.3(SLC26A2):c.*1221delA http://identifiers.org/clinvar/359417 ^@ NM_022458.3(LMBR1):c.*91C>T http://identifiers.org/clinvar/359517 ^@ NM_001101426.3(ISPD):c.*2464G>A http://identifiers.org/clinvar/359667 ^@ NM_001277115.1(DNAH11):c.9312A>G (p.Gln3104=) http://identifiers.org/clinvar/352099 ^@ NM_005211.3(CSF1R):c.*774A>G http://identifiers.org/clinvar/356428 ^@ NM_001014.4(RPS10):c.-29C>T http://identifiers.org/clinvar/352449 ^@ NM_000337.5(SGCD):c.*7871G>C http://identifiers.org/clinvar/352149 ^@ NM_005211.3(CSF1R):c.1606C>G (p.Leu536Val) http://identifiers.org/clinvar/359867 ^@ NM_018947.5(CYCS):c.*4723_*4725delATA http://identifiers.org/clinvar/356528 ^@ NM_182548.3(LHFPL5):c.*506_*512delACACACAinsTCTCTCTCTCT http://identifiers.org/clinvar/352249 ^@ NM_000405.4(GM2A):c.-102A>G http://identifiers.org/clinvar/359967 ^@ NM_005522.4(HOXA1):c.207C>T (p.His69=) http://identifiers.org/clinvar/356628 ^@ NM_005943.5(MOCS1):c.*1406C>G http://identifiers.org/clinvar/352349 ^@ NM_000337.5(SGCD):c.*906C>T http://identifiers.org/clinvar/352599 ^@ NM_000806.5(GABRA1):c.857-5T>C http://identifiers.org/clinvar/352649 ^@ NM_000816.3(GABRG2):c.*250A>C http://identifiers.org/clinvar/360167 ^@ NM_000168.5(GLI3):c.*2508G>C http://identifiers.org/clinvar/360267 ^@ NM_000168.5(GLI3):c.-78G>T http://identifiers.org/clinvar/356978 ^@ NM_006502.2(POLH):c.*3238C>T http://identifiers.org/clinvar/352749 ^@ NM_001017995.2(SH3PXD2B):c.*3119T>C http://identifiers.org/clinvar/352799 ^@ NM_001017995.2(SH3PXD2B):c.*14T>C http://identifiers.org/clinvar/357128 ^@ NM_001024630.3(RUNX2):c.*2612C>G http://identifiers.org/clinvar/352849 ^@ NM_002449.4(MSX2):c.*510A>G http://identifiers.org/clinvar/357478 ^@ NM_018100.3(EFHC1):c.144C>T (p.Gly48=) http://identifiers.org/clinvar/361006 ^@ NM_014251.2(SLC25A13):c.*310C>T http://identifiers.org/clinvar/357578 ^@ NM_001723.5(DST):c.4090C>G (p.Leu1364Val) http://identifiers.org/clinvar/361457 ^@ NM_001715.2(BLK):c.-530G>A http://identifiers.org/clinvar/353738 ^@ NM_002203.3(ITGA2):c.633G>A (p.Val211=) http://identifiers.org/clinvar/353788 ^@ NM_002203.3(ITGA2):c.*208G>A http://identifiers.org/clinvar/361766 ^@ NM_004519.3(KCNQ3):c.*6956A>G http://identifiers.org/clinvar/361816 ^@ NM_004519.3(KCNQ3):c.*3897C>G http://identifiers.org/clinvar/306211 ^@ NM_024079.4(ALG8):c.1460A>G (p.Tyr487Cys) http://identifiers.org/clinvar/299758 ^@ NM_014915.2(ANKRD26):c.739A>T (p.Arg247Trp) http://identifiers.org/clinvar/299858 ^@ NM_021252.4(RAB18):c.*2529G>A http://identifiers.org/clinvar/306462 ^@ NM_005591.3(MRE11):c.*1554C>G http://identifiers.org/clinvar/300008 ^@ NM_000124.3(ERCC6):c.*1860A>G http://identifiers.org/clinvar/306512 ^@ NM_016156.5(MTMR2):c.*1444C>G http://identifiers.org/clinvar/300158 ^@ NM_033056.3(PCDH15):c.*389G>A http://identifiers.org/clinvar/364265 ^@ NM_001701.3(BAAT):c.*1029A>T http://identifiers.org/clinvar/361106 ^@ NM_017890.4(VPS13B):c.*434_*436delTTA http://identifiers.org/clinvar/306862 ^@ NM_000618.4(IGF1):c.*3933G>C http://identifiers.org/clinvar/300308 ^@ NM_018055.4(NODAL):c.280C>T (p.Arg94Trp) http://identifiers.org/clinvar/364415 ^@ NM_005502.3(ABCA1):c.3542C>T (p.Ser1181Phe) http://identifiers.org/clinvar/300508 ^@ NM_002778.3(PSAP):c.1456C>T (p.His486Tyr) http://identifiers.org/clinvar/307312 ^@ NM_000192.3(TBX5):c.13G>A (p.Asp5Asn) http://identifiers.org/clinvar/364465 ^@ NM_005502.3(ABCA1):c.161-12C>G http://identifiers.org/clinvar/300608 ^@ NM_004273.4(CHST3):c.*1399T>C http://identifiers.org/clinvar/364815 ^@ NM_000177.4(GSN):c.1574G>A (p.Arg525His) http://identifiers.org/clinvar/300808 ^@ NM_014000.2(VCL):c.*990_*991dupAT http://identifiers.org/clinvar/364665 ^@ NM_000031.5(ALAD):c.-156_-155insGC http://identifiers.org/clinvar/365015 ^@ NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp) http://identifiers.org/clinvar/365065 ^@ NM_003165.3(STXBP1):c.*1316C>T http://identifiers.org/clinvar/365115 ^@ NM_003863.3(DPM2):c.-5G>A http://identifiers.org/clinvar/364965 ^@ NM_002316.3(LMX1B):c.*3274T>G http://identifiers.org/clinvar/365215 ^@ NM_000113.2(TOR1A):c.*831C>T http://identifiers.org/clinvar/365265 ^@ NM_054012.3(ASS1):c.*58C>T http://identifiers.org/clinvar/365515 ^@ NM_000368.4(TSC1):c.2556G>C (p.Leu852=) http://identifiers.org/clinvar/365665 ^@ NM_000787.3(DBH):c.1556T>C (p.Ile519Thr) http://identifiers.org/clinvar/309201 ^@ NM_000217.2(KCNA1):c.*3316T>C http://identifiers.org/clinvar/309251 ^@ NM_000486.5(AQP2):c.*1218T>C http://identifiers.org/clinvar/365966 ^@ NM_016219.4(MAN1B1):c.1626C>T (p.Pro542=) http://identifiers.org/clinvar/366016 ^@ NM_024757.4(EHMT1):c.2192+11A>T http://identifiers.org/clinvar/366166 ^@ NM_144966.5(FREM1):c.639A>G (p.Arg213=) http://identifiers.org/clinvar/309901 ^@ NM_005379.3(MYO1A):c.2591+5G>A http://identifiers.org/clinvar/309951 ^@ NM_004984.2(KIF5A):c.2994A>G (p.Gly998=) http://identifiers.org/clinvar/306712 ^@ NM_018979.3(WNK1):c.*1990G>A http://identifiers.org/clinvar/310945 ^@ NM_000123.3(ERCC5):c.*84G>A http://identifiers.org/clinvar/311045 ^@ NM_001845.5(COL4A1):c.3018T>G (p.Leu1006=) http://identifiers.org/clinvar/312695 ^@ NM_022489.3(INF2):c.1806C>T (p.Ile602=) http://identifiers.org/clinvar/321919 ^@ NM_006445.3(PRPF8):c.435-6T>G http://identifiers.org/clinvar/312845 ^@ NM_002471.3(MYH6):c.5367G>A (p.Glu1789=) http://identifiers.org/clinvar/340883 ^@ NM_004782.3(SNAP29):c.*2501G>A http://identifiers.org/clinvar/322419 ^@ NM_003593.2(FOXN1):c.546C>T (p.Asn182=) http://identifiers.org/clinvar/322519 ^@ NM_001045.5(SLC6A4):c.*597C>T http://identifiers.org/clinvar/322769 ^@ NM_145068.3(TRPV3):c.1435A>T (p.Met479Leu) http://identifiers.org/clinvar/341433 ^@ NM_004737.5(LARGE1):c.1320C>T (p.Asp440=) http://identifiers.org/clinvar/323019 ^@ NM_001004334.3(GPR179):c.1595G>A (p.Arg532His) http://identifiers.org/clinvar/341783 ^@ NM_001429.3(EP300):c.726T>A (p.Leu242=) http://identifiers.org/clinvar/323069 ^@ NM_002274.3(KRT13):c.*316C>G http://identifiers.org/clinvar/323119 ^@ NM_000226.3(KRT9):c.1519G>C (p.Gly507Arg) http://identifiers.org/clinvar/323169 ^@ NM_002230.2(JUP):c.1587A>G (p.Gln529=) http://identifiers.org/clinvar/313634 ^@ NM_182914.2(SYNE2):c.17892C>T (p.Asn5964=) http://identifiers.org/clinvar/342183 ^@ NM_000487.5(ARSA):c.*2374C>A http://identifiers.org/clinvar/367784 ^@ NM_002294.2(LAMP2):c.*205C>T http://identifiers.org/clinvar/316144 ^@ NM_014080.4(DUOX2):c.3820G>A (p.Val1274Met) http://identifiers.org/clinvar/368134 ^@ NM_171998.3(RAB39B):c.*1621delA http://identifiers.org/clinvar/368284 ^@ NM_001039891.2(ZNF674):c.*1710G>A http://identifiers.org/clinvar/324058 ^@ NM_000088.3(COL1A1):c.*1175T>G http://identifiers.org/clinvar/324367 ^@ NM_000789.3(ACE):c.682C>T (p.Arg228Cys) http://identifiers.org/clinvar/324417 ^@ NM_000789.3(ACE):c.3630G>A (p.Thr1210=) http://identifiers.org/clinvar/324467 ^@ NM_000334.4(SCN4A):c.*1989C>T http://identifiers.org/clinvar/316833 ^@ NM_002755.3(MAP2K1):c.-405T>G http://identifiers.org/clinvar/324617 ^@ NM_014336.4(AIPL1):c.616A>G (p.Ile206Val) http://identifiers.org/clinvar/324667 ^@ NM_031220.3(PITPNM3):c.*3455_*3456insT http://identifiers.org/clinvar/317133 ^@ NM_000781.2(CYP11A1):c.93G>A (p.Arg31=) http://identifiers.org/clinvar/317183 ^@ NM_003978.4(PSTPIP1):c.1054G>A (p.Glu352Lys) http://identifiers.org/clinvar/324917 ^@ NM_000346.3(SOX9):c.993G>A (p.Ala331=) http://identifiers.org/clinvar/325017 ^@ NM_023036.4(DNAI2):c.1165C>T (p.Arg389Cys) http://identifiers.org/clinvar/325117 ^@ NM_000747.2(CHRNB1):c.*843G>C http://identifiers.org/clinvar/317734 ^@ NM_000246.3(CIITA):c.*261C>T http://identifiers.org/clinvar/317884 ^@ NM_032520.4(GNPTG):c.489C>T (p.Phe163=) http://identifiers.org/clinvar/373234 ^@ NM_080605.3(B3GALT6):c.515C>T (p.Ala172Val) http://identifiers.org/clinvar/373634 ^@ NM_001035.2(RYR2):c.5288T>C (p.Phe1763Ser) http://identifiers.org/clinvar/373384 ^@ NM_152778.2(MFSD8):c.1351-2A>G http://identifiers.org/clinvar/372470 ^@ NM_000535.6(PMS2):c.1743delA (p.Glu582Lysfs) http://identifiers.org/clinvar/372984 ^@ NM_000426.3(LAMA2):c.3555+1G>A http://identifiers.org/clinvar/373684 ^@ NM_015093.5(TAB2):c.1376A>G (p.Asn459Ser) http://identifiers.org/clinvar/372881 ^@ NM_007327.3(GRIN1):c.1670C>T (p.Pro557Leu) http://identifiers.org/clinvar/372364 ^@ NM_000507.3(FBP1):c.960delAinsGG (p.Ser321Valfs) http://identifiers.org/clinvar/373134 ^@ NM_194456.1(KRIT1):c.29C>G (p.Ala10Gly) http://identifiers.org/clinvar/372415 ^@ NM_005592.3(MUSK):c.2300G>A (p.Arg767His) http://identifiers.org/clinvar/373084 ^@ NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter) http://identifiers.org/clinvar/372934 ^@ NM_001376.4(DYNC1H1):c.2327C>T (p.Pro776Leu) http://identifiers.org/clinvar/373034 ^@ NM_001844.4(COL2A1):c.3156dupT (p.Gly1053Trpfs) http://identifiers.org/clinvar/372830 ^@ NM_002470.3(MYH3):c.3611T>C (p.Leu1204Pro) http://identifiers.org/clinvar/373284 ^@ NM_000267.3(NF1):c.3911T>A (p.Leu1304Ter) http://identifiers.org/clinvar/373184 ^@ NM_172107.3(KCNQ2):c.2000C>T (p.Ala667Val) http://identifiers.org/clinvar/372522 ^@ NM_000455.4(STK11):c.735-1G>A http://identifiers.org/clinvar/373484 ^@ NM_003588.3(CUL4B):c.686A>G (p.Asn229Ser) http://identifiers.org/clinvar/373434 ^@ NM_000116.4(TAZ):c.699+1G>A http://identifiers.org/clinvar/373584 ^@ NM_003159.2(CDKL5):c.462T>C (p.Phe154=) http://identifiers.org/clinvar/373534 ^@ NM_024301.4(FKRP):c.317C>T (p.Pro106Leu) http://identifiers.org/clinvar/372778 ^@ NM_000444.5(PHEX):c.2198G>A (p.Cys733Tyr) http://identifiers.org/clinvar/373734 ^@ NM_000397.3(CYBB):c.898-2A>C http://identifiers.org/clinvar/373334 ^@ NM_005710.2(PQBP1):c.746G>A (p.Gly249Glu) http://identifiers.org/clinvar/372314 ^@ NM_005183.3(CACNA1F):c.3433G>T (p.Glu1145Ter) http://identifiers.org/clinvar/373884 ^@ NG_005905.2:g.(113863_118103)_(172307_?)del http://identifiers.org/clinvar/374037 ^@ NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) http://identifiers.org/clinvar/374137 ^@ NM_004415.3(DSP):c.2528C>A (p.Ser843Ter) http://identifiers.org/clinvar/373987 ^@ NM_003995.3(NPR2):c.2162_2172delGTGGTCCTTTC (p.Ser721Ilefs) http://identifiers.org/clinvar/374187 ^@ NM_001009944.2(PKD1):c.11524T>C (p.Trp3842Arg) http://identifiers.org/clinvar/373937 ^@ NM_001009944.2(PKD1):c.5086C>T (p.Gln1696Ter) http://identifiers.org/clinvar/374087 ^@ NM_001429.3(EP300):c.2053+4A>T http://identifiers.org/clinvar/374241 ^@ NM_018249.5(CDK5RAP2):c.1772G>A (p.Arg591Gln) http://identifiers.org/clinvar/384985 ^@ NM_006302.2(MOGS):c.12C>G (p.Gly4=) http://identifiers.org/clinvar/379898 ^@ NM_001615.3(ACTG2):c.565T>C (p.Tyr189His) http://identifiers.org/clinvar/380348 ^@ NM_022912.2(REEP1):c.483A>G (p.Gly161=) http://identifiers.org/clinvar/387974 ^@ NM_015560.2(OPA1):c.1706-19A>C http://identifiers.org/clinvar/385035 ^@ NM_000340.1(SLC2A2):c.240T>C (p.Pro80=) http://identifiers.org/clinvar/383644 ^@ NM_015141.3(GPD1L):c.*16G>A http://identifiers.org/clinvar/389863 ^@ NM_000249.3(MLH1):c.208-9A>G http://identifiers.org/clinvar/381490 ^@ NM_198056.2(SCN5A):c.3471C>T (p.Leu1157=) http://identifiers.org/clinvar/386335 ^@ NM_198056.2(SCN5A):c.274-6C>T http://identifiers.org/clinvar/390613 ^@ NM_000179.2(MSH6):c.2550C>T (p.Tyr850=) http://identifiers.org/clinvar/385835 ^@ NM_005051.2(QARS):c.960C>T (p.Asp320=) http://identifiers.org/clinvar/385785 ^@ NM_000038.5(APC):c.7017T>C (p.Pro2339=) http://identifiers.org/clinvar/390313 ^@ NM_001182.4(ALDH7A1):c.561G>A (p.Leu187=) http://identifiers.org/clinvar/384835 ^@ NM_024582.4(FAT4):c.6219A>G (p.Gln2073=) http://identifiers.org/clinvar/385985 ^@ NM_024582.4(FAT4):c.11482A>G (p.Lys3828Glu) http://identifiers.org/clinvar/381390 ^@ NM_004453.3(ETFDH):c.1518G>A (p.Glu506=) http://identifiers.org/clinvar/379697 ^@ NM_001615.3(ACTG2):c.584C>T (p.Thr195Ile) http://identifiers.org/clinvar/388024 ^@ NM_001999.3(FBN2):c.477T>C (p.Cys159=) http://identifiers.org/clinvar/382292 ^@ NM_001182.4(ALDH7A1):c.1565G>C (p.Cys522Ser) http://identifiers.org/clinvar/384585 ^@ NM_002488.4(NDUFA2):c.30C>T (p.Val10=) http://identifiers.org/clinvar/389813 ^@ NM_006073.3(TRDN):c.1567+19T>C http://identifiers.org/clinvar/379047 ^@ NM_000816.3(GABRG2):c.540C>A (p.Tyr180Ter) http://identifiers.org/clinvar/378545 ^@ NM_198056.2(SCN5A):c.3391-3T>C http://identifiers.org/clinvar/379247 ^@ NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg) http://identifiers.org/clinvar/379747 ^@ NM_002667.4(PLN):c.*17C>G http://identifiers.org/clinvar/387674 ^@ NM_000426.3(LAMA2):c.2766C>T (p.Ala922=) http://identifiers.org/clinvar/383594 ^@ NM_016203.3(PRKAG2):c.115-27881G>A http://identifiers.org/clinvar/379347 ^@ NM_000193.3(SHH):c.423C>A (p.Tyr141Ter) http://identifiers.org/clinvar/377396 ^@ NM_020745.3(AARS2):c.162T>C (p.His54=) http://identifiers.org/clinvar/391013 ^@ NM_147127.4(EVC2):c.1954A>G (p.Ile652Val) http://identifiers.org/clinvar/382392 ^@ NM_138361.5(LRSAM1):c.63G>A (p.Gln21=) http://identifiers.org/clinvar/383483 ^@ NM_000443.3(ABCB4):c.3543G>A (p.Gln1181=) http://identifiers.org/clinvar/386035 ^@ NM_013391.3(DMGDH):c.336C>T (p.Ser112=) http://identifiers.org/clinvar/389413 ^@ NM_014251.2(SLC25A13):c.1371A>G (p.Gln457=) http://identifiers.org/clinvar/377698 ^@ NM_018941.3(CLN8):c.15C>T (p.Ser5=) http://identifiers.org/clinvar/390463 ^@ NM_000742.3(CHRNA2):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/381590 ^@ NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) http://identifiers.org/clinvar/380298 ^@ NG_017041.1:g.4996G>C http://identifiers.org/clinvar/377848 ^@ NM_000136.2(FANCC):c.1485G>C (p.Leu495=) http://identifiers.org/clinvar/385435 ^@ NM_006567.4(FARS2):c.945A>G (p.Gly315=) http://identifiers.org/clinvar/378695 ^@ NM_003172.3(SURF1):c.240+9C>T http://identifiers.org/clinvar/385635 ^@ NM_020822.2(KCNT1):c.1200+15C>T http://identifiers.org/clinvar/383433 ^@ NM_004408.3(DNM1):c.992+13C>A http://identifiers.org/clinvar/385235 ^@ NM_001130438.2(SPTAN1):c.5820C>T (p.Asp1940=) http://identifiers.org/clinvar/382141 ^@ NM_002291.2(LAMB1):c.4281G>T (p.Gly1427=) http://identifiers.org/clinvar/384885 ^@ NM_020822.2(KCNT1):c.3048C>T (p.Asp1016=) http://identifiers.org/clinvar/133027 ^@ NM_000540.2(RYR1):c.11969G>T (p.Gly3990Val) http://identifiers.org/clinvar/133077 ^@ NM_000540.2(RYR1):c.14567C>G (p.Ala4856Gly) http://identifiers.org/clinvar/133570 ^@ NM_152641.3(ARID2):c.4492G>A (p.Ala1498Thr) http://identifiers.org/clinvar/135207 ^@ NM_014159.6(SETD2):c.6664C>T (p.Pro2222Ser) http://identifiers.org/clinvar/135258 ^@ NM_005631.4(SMO):c.99C>G (p.Ser33Arg) http://identifiers.org/clinvar/135308 ^@ NM_001127208.2(TET2):c.100C>T (p.Leu34Phe) http://identifiers.org/clinvar/135358 ^@ NM_000546.5(TP53):c.605G>A (p.Arg202His) http://identifiers.org/clinvar/135409 ^@ NM_000377.2(WAS):c.58C>G (p.Gln20Glu) http://identifiers.org/clinvar/135459 ^@ NM_000380.3(XPA):c.568T>G (p.Ser190Ala) http://identifiers.org/clinvar/135509 ^@ NM_001321790.1(CBLB):c.20C>G (p.Pro7Arg) http://identifiers.org/clinvar/135559 ^@ NM_001127500.2(MET):c.1701+76dupT http://identifiers.org/clinvar/135634 ^@ NM_019592.6(RNF20):c.247C>T (p.Gln83Ter) http://identifiers.org/clinvar/135694 ^@ NM_000038.5(APC):c.2658G>T (p.Gln886His) http://identifiers.org/clinvar/135745 ^@ NM_000051.3(ATM):c.2610C>T (p.Asn870=) http://identifiers.org/clinvar/135802 ^@ NM_000059.3(BRCA2):c.5055A>G (p.Ser1685=) http://identifiers.org/clinvar/135854 ^@ NM_000251.2(MSH2):c.166G>A (p.Glu56Lys) http://identifiers.org/clinvar/135904 ^@ NM_000264.3(PTCH1):c.567T>C (p.His189=) http://identifiers.org/clinvar/135954 ^@ NM_000551.3(VHL):c.274G>T (p.Asp92Tyr) http://identifiers.org/clinvar/136006 ^@ NM_001166110.1(PALLD):c.395G>A (p.Arg132His) http://identifiers.org/clinvar/136056 ^@ NM_004360.4(CDH1):c.1173C>T (p.Val391=) http://identifiers.org/clinvar/136107 ^@ NM_020975.4(RET):c.2037C>T (p.Pro679=) http://identifiers.org/clinvar/136218 ^@ NM_020745.3(AARS2):c.2548A>G (p.Met850Val) http://identifiers.org/clinvar/185009 ^@ NM_001042492.2(NF1):c.7461A>G (p.Thr2487=) http://identifiers.org/clinvar/184120 ^@ NM_007294.3(BRCA1):c.5157G>T (p.Val1719=) http://identifiers.org/clinvar/183819 ^@ NM_032043.2(BRIP1):c.2893A>C (p.Arg965=) http://identifiers.org/clinvar/184809 ^@ NM_032043.2(BRIP1):c.2400C>T (p.Tyr800=) http://identifiers.org/clinvar/185909 ^@ NM_032043.2(BRIP1):c.1362A>C (p.Glu454Asp) http://identifiers.org/clinvar/185409 ^@ NM_000546.5(TP53):c.408A>G (p.Gln136=) http://identifiers.org/clinvar/184070 ^@ NM_005359.5(SMAD4):c.1422A>C (p.Ser474=) http://identifiers.org/clinvar/184909 ^@ NM_000455.4(STK11):c.100G>A (p.Val34Ile) http://identifiers.org/clinvar/184220 ^@ NM_000455.4(STK11):c.678C>T (p.Asn226=) http://identifiers.org/clinvar/184170 ^@ NM_007194.3(CHEK2):c.907T>C (p.Leu303=) http://identifiers.org/clinvar/186059 ^@ NM_007194.3(CHEK2):c.557A>T (p.Asn186Ile) http://identifiers.org/clinvar/189839 ^@ NM_004168.3(SDHA):c.295C>T (p.His99Tyr) http://identifiers.org/clinvar/189889 ^@ NM_001165963.1(SCN1A):c.3439G>T (p.Glu1147Ter) http://identifiers.org/clinvar/189989 ^@ NM_001165963.1(SCN1A):c.2318_2319insT (p.Ile774Hisfs) http://identifiers.org/clinvar/189939 ^@ NM_001165963.1(SCN1A):c.1183_1184delGC (p.Ala395Trpfs) http://identifiers.org/clinvar/190105 ^@ NM_173354.4(SIK1):c.859C>A (p.Pro287Thr) http://identifiers.org/clinvar/190174 ^@ NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) http://identifiers.org/clinvar/190225 ^@ NM_001165963.1(SCN1A):c.2214G>A (p.Trp738Ter) http://identifiers.org/clinvar/190305 ^@ NM_006912.5(RIT1):c.270G>C (p.Met90Ile) http://identifiers.org/clinvar/229170 ^@ NM_016203.3(PRKAG2):c.1212C>G (p.Ile404Met) http://identifiers.org/clinvar/229320 ^@ NM_013390.2(TMEM2):c.491A>T (p.Asp164Val) http://identifiers.org/clinvar/227099 ^@ NM_138691.2(TMC1):c.2260+3_2260+5delTGG http://identifiers.org/clinvar/226498 ^@ NM_022124.5(CDH23):c.5871C>G (p.Pro1957=) http://identifiers.org/clinvar/226898 ^@ NM_001277269.1(OTOG):c.5495C>T (p.Ala1832Val) http://identifiers.org/clinvar/228370 ^@ NM_000256.3(MYBPC3):c.2789delT (p.Leu930Argfs) http://identifiers.org/clinvar/228570 ^@ NM_019887.5(DIABLO):c.179C>T (p.Ala60Val) http://identifiers.org/clinvar/226948 ^@ NM_173591.3(OTOGL):c.4252+12C>T http://identifiers.org/clinvar/229120 ^@ NM_173591.3(OTOGL):c.6805A>G (p.Arg2269Gly) http://identifiers.org/clinvar/228920 ^@ NM_000257.3(MYH7):c.703A>G (p.Thr235Ala) http://identifiers.org/clinvar/229270 ^@ NC_000015.10:g.(?_43600872)_(43610984_?)dup http://identifiers.org/clinvar/227970 ^@ NM_153700.2(STRC):c.4563G>A (p.Arg1521=) http://identifiers.org/clinvar/228870 ^@ NM_001040113.1(MYH11):c.4812+5G>A http://identifiers.org/clinvar/228970 ^@ NM_016239.3(MYO15A):c.869A>G (p.Tyr290Cys) http://identifiers.org/clinvar/228620 ^@ NM_004949.4(DSC2):c.1048G>T (p.Asp350Tyr) http://identifiers.org/clinvar/229020 ^@ NM_003803.3(MYOM1):c.3125C>T (p.Pro1042Leu) http://identifiers.org/clinvar/226798 ^@ NM_003803.3(MYOM1):c.1146C>T (p.His382=) http://identifiers.org/clinvar/228820 ^@ NM_144612.6(LOXHD1):c.2399T>A (p.Val800Glu) http://identifiers.org/clinvar/228520 ^@ NM_001146077.1(CLDN14):c.559G>T (p.Asp187Tyr) http://identifiers.org/clinvar/226548 ^@ NM_000395.2(CSF2RB):c.1596C>T (p.Ser532=) http://identifiers.org/clinvar/227049 ^@ NM_000328.2(RPGR):c.2242-8T>C http://identifiers.org/clinvar/234258 ^@ NM_018136.4(ASPM):c.7426A>G (p.Lys2476Glu) http://identifiers.org/clinvar/234004 ^@ NM_001128425.1(MUTYH):c.254A>G (p.His85Arg) http://identifiers.org/clinvar/233753 ^@ NM_000465.3(BARD1):c.1655C>G (p.Ser552Cys) http://identifiers.org/clinvar/233451 ^@ NM_000179.2(MSH6):c.40T>G (p.Ser14Ala) http://identifiers.org/clinvar/233651 ^@ NM_000179.2(MSH6):c.1134_1135delAA (p.Asp380Terfs) http://identifiers.org/clinvar/233301 ^@ NM_000179.2(MSH6):c.2162G>T (p.Arg721Ile) http://identifiers.org/clinvar/233251 ^@ NM_000179.2(MSH6):c.2260A>T (p.Thr754Ser) http://identifiers.org/clinvar/231561 ^@ NM_000179.2(MSH6):c.2501G>A (p.Ser834Asn) http://identifiers.org/clinvar/233701 ^@ NM_000179.2(MSH6):c.2503C>G (p.Gln835Glu) http://identifiers.org/clinvar/231461 ^@ NM_000179.2(MSH6):c.2688A>G (p.Lys896=) http://identifiers.org/clinvar/231211 ^@ NM_000179.2(MSH6):c.3742C>T (p.His1248Tyr) http://identifiers.org/clinvar/231711 ^@ NM_000551.3(VHL):c.451A>C (p.Ile151Leu) http://identifiers.org/clinvar/231361 ^@ NM_000249.3(MLH1):c.623C>G (p.Pro208Arg) http://identifiers.org/clinvar/230461 ^@ NM_000249.3(MLH1):c.1250C>T (p.Thr417Ile) http://identifiers.org/clinvar/264353 ^@ NM_001456.3(FLNA):c.4533T>C (p.Tyr1511=) http://identifiers.org/clinvar/264453 ^@ NM_005120.2(MED12):c.492T>C (p.Cys164=) http://identifiers.org/clinvar/264873 ^@ NM_000059.3(BRCA2):c.8332-1594T>G http://identifiers.org/clinvar/264923 ^@ NM_000059.3(BRCA2):c.9256+541A>C http://identifiers.org/clinvar/264823 ^@ NM_007294.3(BRCA1):c.134+2994G>C http://identifiers.org/clinvar/264773 ^@ NM_007294.3(BRCA1):c.-19-85_-19-81del http://identifiers.org/clinvar/265912 ^@ NM_174936.3(PCSK9):c.-245G>T http://identifiers.org/clinvar/265966 ^@ NM_003611.2(OFD1):c.52G>T (p.Glu18*) http://identifiers.org/clinvar/266017 ^@ NM_000426.3(LAMA2):c.8665G>A (p.Gly2889Arg) http://identifiers.org/clinvar/266094 ^@ NM_001244189.1(KIAA0586):c.2566T>G (p.Ser856Ala) http://identifiers.org/clinvar/266344 ^@ NM_007294.3(BRCA1):c.3211_3212dupGA (p.Leu1072Asnfs) http://identifiers.org/clinvar/266294 ^@ NM_007294.3(BRCA1):c.2694delA (p.Val899Serfs) http://identifiers.org/clinvar/266244 ^@ NM_007294.3(BRCA1):c.2273delT (p.Leu758Cysfs) http://identifiers.org/clinvar/266194 ^@ NM_007294.3(BRCA1):c.1847delC (p.Ser616Leufs) http://identifiers.org/clinvar/266144 ^@ NM_007294.3(BRCA1):c.1209dupT (p.Glu404Terfs) http://identifiers.org/clinvar/290923 ^@ NM_004006.2(DMD):c.352T>C (p.Trp118Arg) http://identifiers.org/clinvar/290973 ^@ NM_022437.2(ABCG8):c.729C>T (p.Leu243=) http://identifiers.org/clinvar/291023 ^@ NM_024408.3(NOTCH2):c.6363G>C (p.Lys2121Asn) http://identifiers.org/clinvar/291073 ^@ NM_001077525.2(MTMR14):c.567G>A (p.Thr189=) http://identifiers.org/clinvar/291123 ^@ NM_001130987.1(DYSF):c.1329C>A (p.Asn443Lys) http://identifiers.org/clinvar/291174 ^@ NM_001243766.1(POMGNT1):c.1539C>T (p.His513=) http://identifiers.org/clinvar/291224 ^@ NM_001101426.3(ISPD):c.991A>G (p.Ile331Val) http://identifiers.org/clinvar/291274 ^@ NM_003839.3(TNFRSF11A):c.1644G>C (p.Val548=) http://identifiers.org/clinvar/291389 ^@ NM_001918.3(DBT):c.*7307G>C http://identifiers.org/clinvar/291439 ^@ NM_001918.3(DBT):c.*1064dupA http://identifiers.org/clinvar/291489 ^@ NM_001854.3(COL11A1):c.*240A>G http://identifiers.org/clinvar/291539 ^@ NM_001854.3(COL11A1):c.926A>T (p.Tyr309Phe) http://identifiers.org/clinvar/291589 ^@ NM_015074.3(KIF1B):c.*279_*280delCA http://identifiers.org/clinvar/292191 ^@ NM_005957.4(MTHFR):c.*2598C>T http://identifiers.org/clinvar/292291 ^@ NM_000302.3(PLOD1):c.1172A>G (p.Asn391Ser) http://identifiers.org/clinvar/292141 ^@ NM_001232.3(CASQ2):c.-218delTinsCGTGCGTGC http://identifiers.org/clinvar/292441 ^@ NM_005266.6(GJA5):c.*608C>T http://identifiers.org/clinvar/292491 ^@ NM_005850.4(SF3B4):c.-297C>T http://identifiers.org/clinvar/292591 ^@ NM_000396.3(CTSK):c.-185C>T http://identifiers.org/clinvar/292341 ^@ NM_000302.3(PLOD1):c.1790C>T (p.Pro597Leu) http://identifiers.org/clinvar/292691 ^@ NM_152263.3(TPM3):c.*283G>C http://identifiers.org/clinvar/292791 ^@ NM_000298.5(PKLR):c.*1041C>T http://identifiers.org/clinvar/292641 ^@ NM_152263.3(TPM3):c.*4525G>T http://identifiers.org/clinvar/292241 ^@ NM_005957.4(MTHFR):c.867C>A (p.Asp289Glu) http://identifiers.org/clinvar/293041 ^@ NM_003126.2(SPTA1):c.1350+13A>G http://identifiers.org/clinvar/293241 ^@ NM_000309.3(PPOX):c.-113A>G http://identifiers.org/clinvar/292841 ^@ NM_022367.3(SEMA4A):c.-165G>A http://identifiers.org/clinvar/292391 ^@ NM_014874.3(MFN2):c.*864T>C http://identifiers.org/clinvar/293291 ^@ NM_001643.1(APOA2):c.243G>A (p.Thr81=) http://identifiers.org/clinvar/293391 ^@ NM_004431.4(EPHA2):c.*714G>A http://identifiers.org/clinvar/292541 ^@ NM_019032.5(ADAMTSL4):c.1862-11C>T http://identifiers.org/clinvar/293441 ^@ NM_004431.4(EPHA2):c.714G>C (p.Pro238=) http://identifiers.org/clinvar/292741 ^@ NM_001111.4(ADAR):c.*527A>G http://identifiers.org/clinvar/292891 ^@ NM_001012331.1(NTRK1):c.1788-4delA http://identifiers.org/clinvar/292941 ^@ NM_003126.2(SPTA1):c.6868C>T (p.Arg2290Cys) http://identifiers.org/clinvar/293941 ^@ NM_002065.6(GLUL):c.930C>T (p.Asn310=) http://identifiers.org/clinvar/293091 ^@ NM_002241.4(KCNJ10):c.*2040C>G http://identifiers.org/clinvar/293991 ^@ NM_005562.2(LAMC2):c.407A>T (p.Asp136Val) http://identifiers.org/clinvar/292991 ^@ NM_003126.2(SPTA1):c.3697G>A (p.Val1233Ile) http://identifiers.org/clinvar/293141 ^@ NM_000702.3(ATP1A2):c.*147C>T http://identifiers.org/clinvar/293191 ^@ NM_002857.3(PEX19):c.*2637G>A http://identifiers.org/clinvar/293341 ^@ NM_003001.3(SDHC):c.*1181_*1182insA http://identifiers.org/clinvar/293491 ^@ NM_005149.2(TBX19):c.*479G>C http://identifiers.org/clinvar/293541 ^@ NM_000130.4(F5):c.*2328G>C http://identifiers.org/clinvar/293591 ^@ NM_000130.4(F5):c.5022A>G (p.Gly1674=) http://identifiers.org/clinvar/293641 ^@ NM_000130.4(F5):c.165T>C (p.Asn55=) http://identifiers.org/clinvar/294980 ^@ NM_002389.4(CD46):c.*503A>G http://identifiers.org/clinvar/336236 ^@ NM_001430.4(EPAS1):c.218-14_218-13insG http://identifiers.org/clinvar/336393 ^@ NM_139279.5(MCFD2):c.-104_-96delGGGGGGGGG http://identifiers.org/clinvar/343622 ^@ NM_001184.3(ATR):c.436A>G (p.Thr146Ala) http://identifiers.org/clinvar/344522 ^@ NM_015560.2(OPA1):c.*3027A>G http://identifiers.org/clinvar/343672 ^@ NM_031850.3(AGTR1):c.714T>C (p.Gly238=) http://identifiers.org/clinvar/343822 ^@ NM_005677.3(COLQ):c.*1490A>C http://identifiers.org/clinvar/336643 ^@ NM_001039348.2(EFEMP1):c.-261C>A http://identifiers.org/clinvar/336286 ^@ NM_001430.4(EPAS1):c.*117T>A http://identifiers.org/clinvar/336336 ^@ NM_139279.5(MCFD2):c.*2658C>T http://identifiers.org/clinvar/344022 ^@ NM_001041.3(SI):c.3995C>A (p.Ala1332Glu) http://identifiers.org/clinvar/344172 ^@ NM_000340.1(SLC2A2):c.-238A>G http://identifiers.org/clinvar/344372 ^@ NM_000460.3(THPO):c.517G>A (p.Val173Ile) http://identifiers.org/clinvar/336993 ^@ NM_003124.4(SPR):c.*108G>A http://identifiers.org/clinvar/336893 ^@ NM_001002755.2(NFU1):c.166+8T>A http://identifiers.org/clinvar/346161 ^@ NM_052859.3(RFT1):c.*1901G>A http://identifiers.org/clinvar/346361 ^@ NM_001457.3(FLNB):c.7041C>A (p.Phe2347Leu) http://identifiers.org/clinvar/346661 ^@ NM_032682.5(FOXP1):c.-441G>A http://identifiers.org/clinvar/342383 ^@ NM_033084.4(FANCD2):c.*62A>G http://identifiers.org/clinvar/346711 ^@ NM_002942.4(ROBO2):c.3857G>T (p.Arg1286Leu) http://identifiers.org/clinvar/342483 ^@ NM_000551.3(VHL):c.*2715C>T http://identifiers.org/clinvar/342283 ^@ NM_016247.3(IMPG2):c.*3514C>T http://identifiers.org/clinvar/346761 ^@ NM_002942.4(ROBO2):c.*3151A>G http://identifiers.org/clinvar/345661 ^@ NM_015175.2(NBEAL2):c.4169C>T (p.Ser1390Leu) http://identifiers.org/clinvar/342583 ^@ NM_198196.2(CD96):c.*2076delT http://identifiers.org/clinvar/346961 ^@ NM_000097.5(CPOX):c.*475T>A http://identifiers.org/clinvar/347161 ^@ NM_000204.4(CFI):c.1044+9G>A http://identifiers.org/clinvar/342733 ^@ NM_020754.3(ARHGAP31):c.*3166C>G http://identifiers.org/clinvar/342633 ^@ NM_020754.3(ARHGAP31):c.540-6C>T http://identifiers.org/clinvar/347361 ^@ NM_001148.4(ANK2):c.*1166dupT http://identifiers.org/clinvar/346111 ^@ NM_004656.3(BAP1):c.*444C>T http://identifiers.org/clinvar/346211 ^@ NM_003392.4(WNT5A):c.*3864T>C http://identifiers.org/clinvar/346461 ^@ NM_198859.3(PRICKLE2):c.*792dupT http://identifiers.org/clinvar/343522 ^@ NM_024334.2(TMEM43):c.*771_*775delCAAAA http://identifiers.org/clinvar/343572 ^@ NM_004628.4(XPC):c.1469G>A (p.Ser490Asn) http://identifiers.org/clinvar/346611 ^@ NM_032682.5(FOXP1):c.*1125dupA http://identifiers.org/clinvar/348100 ^@ NM_012224.2(NEK1):c.2890+11T>C http://identifiers.org/clinvar/343472 ^@ NM_000532.4(PCCB):c.882C>T (p.Pro294=) http://identifiers.org/clinvar/348200 ^@ NM_000860.5(HPGD):c.680A>G (p.Asn227Ser) http://identifiers.org/clinvar/348150 ^@ NM_000320.2(QDPR):c.*220_*221invTG http://identifiers.org/clinvar/348350 ^@ NM_207352.3(CYP4V2):c.*1159T>A http://identifiers.org/clinvar/346861 ^@ NM_033337.2(CAV3):c.*813delC http://identifiers.org/clinvar/343922 ^@ NM_024996.5(GFM1):c.234+12C>T http://identifiers.org/clinvar/361866 ^@ NM_004519.3(KCNQ3):c.*743C>T http://identifiers.org/clinvar/353988 ^@ NM_001104631.1(PDE4D):c.1692A>G (p.Lys564=) http://identifiers.org/clinvar/361966 ^@ NM_003235.4(TG):c.4743C>T (p.Phe1581=) http://identifiers.org/clinvar/353638 ^@ NM_002310.5(LIFR):c.-19-10C>T http://identifiers.org/clinvar/353688 ^@ NM_000163.4(GHR):c.1788C>G (p.Thr596=) http://identifiers.org/clinvar/353838 ^@ NM_002203.3(ITGA2):c.*2939C>T http://identifiers.org/clinvar/353888 ^@ NM_002495.3(NDUFS4):c.-22C>A http://identifiers.org/clinvar/354538 ^@ NM_002890.2(RASA1):c.*476T>G http://identifiers.org/clinvar/358867 ^@ NM_000883.3(IMPDH1):c.*228G>A http://identifiers.org/clinvar/359017 ^@ NM_020632.2(ATP6V0A4):c.1385C>T (p.Thr462Met) http://identifiers.org/clinvar/359367 ^@ NM_016203.3(PRKAG2):c.-580C>T http://identifiers.org/clinvar/354938 ^@ NM_014028.3(OSTM1):c.*2488delT http://identifiers.org/clinvar/354888 ^@ NM_007214.4(SEC63):c.*123T>A http://identifiers.org/clinvar/354988 ^@ NM_001242957.1(MAK):c.-278A>G http://identifiers.org/clinvar/355289 ^@ NM_000426.3(LAMA2):c.6438A>G (p.Val2146=) http://identifiers.org/clinvar/355389 ^@ NM_006208.2(ENPP1):c.*1299C>T http://identifiers.org/clinvar/355439 ^@ NM_172105.3(EYA4):c.-227dupT http://identifiers.org/clinvar/360117 ^@ NM_133468.4(BMPER):c.1927A>T (p.Ile643Phe) http://identifiers.org/clinvar/364315 ^@ NM_000035.3(ALDOB):c.309C>T (p.Ile103=) http://identifiers.org/clinvar/364715 ^@ NM_012210.3(TRIM32):c.27G>C (p.Leu9=) http://identifiers.org/clinvar/364915 ^@ NM_002316.3(LMX1B):c.*932G>T http://identifiers.org/clinvar/356328 ^@ NM_006929.4(SKIV2L):c.1705G>A (p.Val569Met) http://identifiers.org/clinvar/356578 ^@ NM_001145717.1(PNPLA1):c.*336A>G http://identifiers.org/clinvar/365315 ^@ NM_015046.5(SETX):c.*1442T>G http://identifiers.org/clinvar/365365 ^@ NM_015046.5(SETX):c.2469C>G (p.Phe823Leu) http://identifiers.org/clinvar/361156 ^@ NM_015713.4(RRM2B):c.*1673T>G http://identifiers.org/clinvar/365615 ^@ NM_014694.3(ADAMTSL2):c.*217G>T http://identifiers.org/clinvar/356878 ^@ NM_203290.3(POLR1C):c.634A>G (p.Met212Val) http://identifiers.org/clinvar/361406 ^@ NM_178857.5(RP1L1):c.489C>A (p.Arg163=) http://identifiers.org/clinvar/361566 ^@ NM_014112.4(TRPS1):c.*2538C>T http://identifiers.org/clinvar/356778 ^@ NM_000322.4(PRPH2):c.312C>T (p.Ile104=) http://identifiers.org/clinvar/365865 ^@ NM_052813.4(CARD9):c.-139G>A http://identifiers.org/clinvar/356828 ^@ NM_014780.4(CUL7):c.3463-10T>C http://identifiers.org/clinvar/361666 ^@ NM_000127.2(EXT1):c.-139A>G http://identifiers.org/clinvar/365916 ^@ NM_006412.3(AGPAT2):c.820G>A (p.Val274Met) http://identifiers.org/clinvar/357078 ^@ NM_020745.3(AARS2):c.872C>T (p.Pro291Leu) http://identifiers.org/clinvar/356928 ^@ NM_006502.2(POLH):c.*952C>T http://identifiers.org/clinvar/366116 ^@ NM_144966.5(FREM1):c.4859T>C (p.Val1620Ala) http://identifiers.org/clinvar/357178 ^@ NM_012120.2(CD2AP):c.1651A>G (p.Thr551Ala) http://identifiers.org/clinvar/361916 ^@ NM_003235.4(TG):c.1681A>G (p.Asn561Asp) http://identifiers.org/clinvar/311145 ^@ NM_001846.3(COL4A2):c.2152C>T (p.Pro718Ser) http://identifiers.org/clinvar/311245 ^@ NM_000131.4(F7):c.*628_*630delTCA http://identifiers.org/clinvar/311295 ^@ NM_021954.3(GJA3):c.*2602T>C http://identifiers.org/clinvar/311595 ^@ NM_018451.4(CENPJ):c.*464A>G http://identifiers.org/clinvar/311745 ^@ NM_015087.4(SPG20):c.*1848A>C http://identifiers.org/clinvar/367055 ^@ NM_004170.5(SLC1A1):c.1194-10G>A http://identifiers.org/clinvar/367105 ^@ NM_203447.3(DOCK8):c.*847A>G http://identifiers.org/clinvar/367255 ^@ NM_138691.2(TMC1):c.795A>C (p.Thr265=) http://identifiers.org/clinvar/312095 ^@ NM_207361.5(FREM2):c.*5019A>T http://identifiers.org/clinvar/303957 ^@ NM_003476.4(CSRP3):c.-158A>G http://identifiers.org/clinvar/304007 ^@ NM_004211.4(SLC6A5):c.356A>G (p.His119Arg) http://identifiers.org/clinvar/304107 ^@ NM_213599.2(ANO5):c.2236-5T>G http://identifiers.org/clinvar/312245 ^@ NM_003701.3(TNFSF11):c.*357C>T http://identifiers.org/clinvar/312295 ^@ NM_000321.2(RB1):c.2463A>G (p.Thr821=) http://identifiers.org/clinvar/298769 ^@ NM_005445.3(SMC3):c.1671-6A>G http://identifiers.org/clinvar/312645 ^@ NM_001376.4(DYNC1H1):c.10320G>A (p.Leu3440=) http://identifiers.org/clinvar/367684 ^@ NM_000197.1(HSD17B3):c.91G>A (p.Val31Ile) http://identifiers.org/clinvar/304457 ^@ NM_003477.2(PDHX):c.-129C>T http://identifiers.org/clinvar/298569 ^@ NM_016169.3(SUFU):c.-33C>T http://identifiers.org/clinvar/304507 ^@ NM_000448.2(RAG1):c.2825C>T (p.Thr942Ile) http://identifiers.org/clinvar/299908 ^@ NM_020975.4(RET):c.*388G>A http://identifiers.org/clinvar/299658 ^@ NM_017433.4(MYO3A):c.1746A>G (p.Gln582=) http://identifiers.org/clinvar/305898 ^@ NM_012309.4(SHANK2):c.912+3764G>A http://identifiers.org/clinvar/300358 ^@ NM_018344.5(SLC29A3):c.383+6C>T http://identifiers.org/clinvar/299808 ^@ NM_021252.4(RAB18):c.-182G>A http://identifiers.org/clinvar/300458 ^@ NM_022124.5(CDH23):c.7720T>C (p.Tyr2574His) http://identifiers.org/clinvar/299958 ^@ NM_002900.2(RBP3):c.2871G>T (p.Leu957=) http://identifiers.org/clinvar/300758 ^@ NM_002658.4(PLAU):c.1048T>C (p.Tyr350His) http://identifiers.org/clinvar/306562 ^@ NM_030962.3(SBF2):c.*730G>A http://identifiers.org/clinvar/300258 ^@ NM_000417.2(IL2RA):c.367+12A>T http://identifiers.org/clinvar/329217 ^@ NM_017827.3(SARS2):c.758G>A (p.Arg253Gln) http://identifiers.org/clinvar/317834 ^@ NM_005236.2(ERCC4):c.*675G>T http://identifiers.org/clinvar/317934 ^@ NM_001287.5(CLCN7):c.*396G>A http://identifiers.org/clinvar/310101 ^@ NM_001065.3(TNFRSF1A):c.*333G>A http://identifiers.org/clinvar/310151 ^@ NM_001038.5(SCNN1A):c.648G>A (p.Gln216=) http://identifiers.org/clinvar/329956 ^@ NM_024729.3(MYH14):c.*142C>G http://identifiers.org/clinvar/330006 ^@ NM_144687.3(NLRP12):c.2831G>A (p.Arg944Gln) http://identifiers.org/clinvar/310201 ^@ NM_002076.3(GNS):c.*319C>T http://identifiers.org/clinvar/330106 ^@ NM_015629.3(PRPF31):c.1206G>A (p.Ser402=) http://identifiers.org/clinvar/330156 ^@ NM_206828.3(NLRP7):c.2775A>G (p.Ala925=) http://identifiers.org/clinvar/311795 ^@ NM_000538.3(RFXAP):c.*81G>A http://identifiers.org/clinvar/330206 ^@ NM_001256714.1(DNAAF3):c.1791G>A (p.Pro597=) http://identifiers.org/clinvar/318536 ^@ NM_001083614.1(EARS2):c.*380_*384delACAGA http://identifiers.org/clinvar/330556 ^@ NM_006949.3(STXBP2):c.1375C>T (p.Arg459Trp) http://identifiers.org/clinvar/330606 ^@ NM_030957.3(ADAMTS10):c.1176C>T (p.His392=) http://identifiers.org/clinvar/306612 ^@ NM_018979.3(WNK1):c.5869C>T (p.Arg1957Cys) http://identifiers.org/clinvar/306662 ^@ NM_018979.3(WNK1):c.6603T>C (p.Asp2201=) http://identifiers.org/clinvar/319576 ^@ NM_002968.2(SALL1):c.*1033dupG http://identifiers.org/clinvar/311095 ^@ NM_001846.3(COL4A2):c.-44-5T>C http://identifiers.org/clinvar/320176 ^@ NM_001538.3(HSF4):c.-23C>T http://identifiers.org/clinvar/311645 ^@ NM_015972.3(POLR1D):c.-88G>C http://identifiers.org/clinvar/320376 ^@ NM_015386.2(COG4):c.1017G>A (p.Gln339=) http://identifiers.org/clinvar/311695 ^@ NM_004795.3(KL):c.1540C>T (p.Pro514Ser) http://identifiers.org/clinvar/320426 ^@ NM_001361.4(DHODH):c.666C>G (p.Ser222Arg) http://identifiers.org/clinvar/320476 ^@ NM_024306.4(FA2H):c.*646T>G http://identifiers.org/clinvar/311845 ^@ NM_001127217.2(SMAD9):c.*2201_*2202delTT http://identifiers.org/clinvar/320676 ^@ NM_022041.3(GAN):c.*544C>G http://identifiers.org/clinvar/311995 ^@ NM_207361.5(FREM2):c.5545C>G (p.Gln1849Glu) http://identifiers.org/clinvar/312145 ^@ NM_020751.2(COG6):c.1513C>T (p.Leu505=) http://identifiers.org/clinvar/339643 ^@ NM_000484.3(APP):c.618G>A (p.Ser206=) http://identifiers.org/clinvar/312195 ^@ NM_014252.3(SLC25A15):c.*871T>C http://identifiers.org/clinvar/339743 ^@ NM_000219.5(KCNE1):c.*1583A>C http://identifiers.org/clinvar/339893 ^@ NM_144492.2(CLDN14):c.-46G>A http://identifiers.org/clinvar/339943 ^@ NM_000411.6(HLCS):c.*1273T>A http://identifiers.org/clinvar/312345 ^@ NM_000053.3(ATP7B):c.*1717G>T http://identifiers.org/clinvar/342133 ^@ NM_005138.2(SCO2):c.-135_-132dupCTGC http://identifiers.org/clinvar/328317 ^@ NM_006563.4(KLF1):c.520G>T (p.Gly174Cys) http://identifiers.org/clinvar/367734 ^@ NM_080632.2(UPF3B):c.-100G>A http://identifiers.org/clinvar/328467 ^@ NM_000215.3(JAK3):c.*1531T>C http://identifiers.org/clinvar/328617 ^@ NM_000095.2(COMP):c.867+11G>A http://identifiers.org/clinvar/367884 ^@ NM_002351.4(SH2D1A):c.*1100C>A http://identifiers.org/clinvar/328817 ^@ NM_000285.3(PEPD):c.456G>A (p.Thr152=) http://identifiers.org/clinvar/368084 ^@ NM_000054.4(AVPR2):c.*282G>A http://identifiers.org/clinvar/328867 ^@ NM_004646.3(NPHS1):c.1799A>G (p.Lys600Arg) http://identifiers.org/clinvar/328967 ^@ NM_032753.3(RAX2):c.217-8C>A http://identifiers.org/clinvar/329167 ^@ NM_033064.4(ATCAY):c.*740G>A http://identifiers.org/clinvar/368684 ^@ NM_153252.4(BRWD3):c.*6197T>C http://identifiers.org/clinvar/327867 ^@ NM_005786.5(TSHZ1):c.*731T>C http://identifiers.org/clinvar/329756 ^@ NM_000554.5(CRX):c.*2155G>A http://identifiers.org/clinvar/329856 ^@ NM_017636.3(TRPM4):c.1532T>A (p.Leu511Gln) http://identifiers.org/clinvar/329906 ^@ NM_024729.3(MYH14):c.535G>A (p.Glu179Lys) http://identifiers.org/clinvar/328017 ^@ NM_001128849.1(SMARCA4):c.-32+11C>T http://identifiers.org/clinvar/328117 ^@ NM_000527.4(LDLR):c.*2016G>A http://identifiers.org/clinvar/330056 ^@ NM_002739.4(PRKCG):c.-169G>C http://identifiers.org/clinvar/328167 ^@ NM_002743.3(PRKCSH):c.-119C>G http://identifiers.org/clinvar/328267 ^@ NM_000528.3(MAN2B1):c.1587G>T (p.Pro529=) http://identifiers.org/clinvar/330256 ^@ NM_006087.3(TUBB4A):c.*111G>C http://identifiers.org/clinvar/328367 ^@ NM_000435.2(NOTCH3):c.*354_*355dupTT http://identifiers.org/clinvar/328517 ^@ NM_000215.3(JAK3):c.1453C>T (p.Leu485=) http://identifiers.org/clinvar/328567 ^@ NM_000453.2(SLC5A5):c.*826C>A http://identifiers.org/clinvar/328767 ^@ NM_014270.4(SLC7A9):c.183T>A (p.Ala61=) http://identifiers.org/clinvar/328917 ^@ NM_001083961.1(WDR62):c.2521-13G>C http://identifiers.org/clinvar/330356 ^@ NM_000208.3(INSR):c.*4186T>C http://identifiers.org/clinvar/339593 ^@ NM_000933.3(PLCB4):c.3373-4delG http://identifiers.org/clinvar/330406 ^@ NM_000208.3(INSR):c.*1416delA http://identifiers.org/clinvar/330456 ^@ NM_000208.3(INSR):c.2572A>G (p.Thr858Ala) http://identifiers.org/clinvar/330506 ^@ NM_020533.2(MCOLN1):c.1719G>A (p.Glu573=) http://identifiers.org/clinvar/339793 ^@ NM_001754.4(RUNX1):c.*4238G>T http://identifiers.org/clinvar/341083 ^@ NM_000268.3(NF2):c.*293C>A http://identifiers.org/clinvar/341383 ^@ NM_000362.4(TIMP3):c.*2188C>T http://identifiers.org/clinvar/341483 ^@ NM_002473.5(MYH9):c.*198dupC http://identifiers.org/clinvar/339693 ^@ NM_000628.4(IL10RB):c.174-14T>G http://identifiers.org/clinvar/341633 ^@ NM_003560.2(PLA2G6):c.*160T>C http://identifiers.org/clinvar/341733 ^@ NM_022098.3(XPNPEP3):c.*3366C>T http://identifiers.org/clinvar/339843 ^@ NM_001754.4(RUNX1):c.*1683_*1684delAT http://identifiers.org/clinvar/341883 ^@ NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) http://identifiers.org/clinvar/339993 ^@ NM_020639.2(RIPK4):c.*748A>G http://identifiers.org/clinvar/342033 ^@ NM_024105.3(ALG12):c.*354G>A http://identifiers.org/clinvar/381290 ^@ NM_018238.3(AGK):c.498C>T (p.Ala166=) http://identifiers.org/clinvar/387824 ^@ NM_020822.2(KCNT1):c.841C>A (p.Leu281Ile) http://identifiers.org/clinvar/377748 ^@ NM_004376.6(COX15):c.933C>G (p.Ile311Met) http://identifiers.org/clinvar/387574 ^@ NM_007327.3(GRIN1):c.747C>T (p.Val249=) http://identifiers.org/clinvar/379147 ^@ NM_000535.6(PMS2):c.1145-16G>A http://identifiers.org/clinvar/385735 ^@ NM_201590.2(CACNB2):c.642+176A>G http://identifiers.org/clinvar/387774 ^@ NM_000136.2(FANCC):c.165+12A>G http://identifiers.org/clinvar/379447 ^@ NM_000264.3(PTCH1):c.3622G>A (p.Ala1208Thr) http://identifiers.org/clinvar/390363 ^@ NM_152264.4(SLC39A13):c.-53G>T http://identifiers.org/clinvar/377548 ^@ NM_004281.3(BAG3):c.96G>T (p.Pro32=) http://identifiers.org/clinvar/379197 ^@ NM_000051.3(ATM):c.1515T>C (p.Phe505=) http://identifiers.org/clinvar/382191 ^@ NM_000051.3(ATM):c.4437-7A>G http://identifiers.org/clinvar/390063 ^@ NM_006231.3(POLE):c.42C>A (p.Gly14=) http://identifiers.org/clinvar/385585 ^@ NM_001931.4(DLAT):c.754C>T (p.Leu252=) http://identifiers.org/clinvar/388074 ^@ NM_020297.3(ABCC9):c.1638T>C (p.Ile546=) http://identifiers.org/clinvar/378645 ^@ NM_001130438.2(SPTAN1):c.108G>A (p.Arg36=) http://identifiers.org/clinvar/388424 ^@ NM_005609.3(PYGM):c.*11C>T http://identifiers.org/clinvar/388374 ^@ NM_000391.3(TPP1):c.139C>T (p.Leu47=) http://identifiers.org/clinvar/388274 ^@ NM_000920.3(PC):c.3171G>A (p.Thr1057=) http://identifiers.org/clinvar/383745 ^@ NM_000059.3(BRCA2):c.1161T>C (p.Val387=) http://identifiers.org/clinvar/378595 ^@ NM_024698.5(SLC25A22):c.743-16C>T http://identifiers.org/clinvar/390163 ^@ NM_007327.3(GRIN1):c.2013+19G>A http://identifiers.org/clinvar/390213 ^@ NM_000719.6(CACNA1C):c.2339+20C>T http://identifiers.org/clinvar/388124 ^@ NM_012062.4(DNM1L):c.95G>C (p.Gly32Ala) http://identifiers.org/clinvar/381941 ^@ NM_006231.3(POLE):c.2468+18C>T http://identifiers.org/clinvar/377798 ^@ NM_203447.3(DOCK8):c.1881T>C (p.Phe627=) http://identifiers.org/clinvar/385185 ^@ NM_000020.2(ACVRL1):c.376G>A (p.Val126Met) http://identifiers.org/clinvar/382342 ^@ NM_153026.2(PRICKLE1):c.1359C>T (p.Thr453=) http://identifiers.org/clinvar/390013 ^@ NM_130838.1(UBE3A):c.1764G>A (p.Gln588=) http://identifiers.org/clinvar/379948 ^@ NM_024537.3(CARS2):c.417C>T (p.Leu139=) http://identifiers.org/clinvar/388574 ^@ NM_001376.4(DYNC1H1):c.9075G>A (p.Glu3025=) http://identifiers.org/clinvar/390813 ^@ NM_000059.3(BRCA2):c.4440T>C (p.Tyr1480=) http://identifiers.org/clinvar/387624 ^@ NM_000059.3(BRCA2):c.7530G>A (p.Leu2510=) http://identifiers.org/clinvar/383895 ^@ NM_000051.3(ATM):c.8671+20T>C http://identifiers.org/clinvar/385485 ^@ NM_001271.3(CHD2):c.2001-15C>G http://identifiers.org/clinvar/381790 ^@ NM_001909.4(CTSD):c.552G>A (p.Lys184=) http://identifiers.org/clinvar/384635 ^@ NM_000814.5(GABRB3):c.-804G>C http://identifiers.org/clinvar/388224 ^@ NM_000548.4(TSC2):c.2163G>A (p.Val721=) http://identifiers.org/clinvar/389913 ^@ NM_024675.3(PALB2):c.48+19G>A http://identifiers.org/clinvar/389613 ^@ NM_015531.5(C2CD3):c.2594C>G (p.Ser865Cys) http://identifiers.org/clinvar/390113 ^@ NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) http://identifiers.org/clinvar/384735 ^@ NM_020778.4(ALPK3):c.1805A>G (p.Gln602Arg) http://identifiers.org/clinvar/391063 ^@ NM_002693.2(POLG):c.3282C>G (p.Thr1094=) http://identifiers.org/clinvar/383544 ^@ NM_006231.3(POLE):c.2864+9C>T http://identifiers.org/clinvar/384685 ^@ NM_020778.4(ALPK3):c.1736G>A (p.Gly579Glu) http://identifiers.org/clinvar/47450 ^@ NM_133378.4(TTN):c.78275T>C (p.Ile26092Thr) http://identifiers.org/clinvar/47500 ^@ NM_133378.4(TTN):c.83074dupT (p.Tyr27692Leufs) http://identifiers.org/clinvar/47550 ^@ NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) http://identifiers.org/clinvar/47600 ^@ NM_133378.4(TTN):c.90686A>G (p.Asn30229Ser) http://identifiers.org/clinvar/47650 ^@ NM_133378.4(TTN):c.94815C>T (p.Gly31605=) http://identifiers.org/clinvar/47700 ^@ NM_133378.4(TTN):c.98078C>T (p.Pro32693Leu) http://identifiers.org/clinvar/47750 ^@ NM_133379.4(TTN):c.13210A>G (p.Arg4404Gly) http://identifiers.org/clinvar/47800 ^@ NM_133379.4(TTN):c.16353C>G (p.Tyr5451Ter) http://identifiers.org/clinvar/47850 ^@ NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) http://identifiers.org/clinvar/47900 ^@ NM_144573.3(NEXN):c.1996A>G (p.Thr666Ala) http://identifiers.org/clinvar/47950 ^@ NM_144612.6(LOXHD1):c.6153T>C (p.Asn2051=) http://identifiers.org/clinvar/48002 ^@ NM_005709.3(USH1C):c.1541C>A (p.Thr514Asn) http://identifiers.org/clinvar/141 ^@ NM_033409.3(SLC52A3):c.394C>T (p.Arg132Trp) http://identifiers.org/clinvar/150 ^@ NM_000274.3(OAT):c.163T>C (p.Tyr55His) http://identifiers.org/clinvar/219 ^@ NM_000027.3(AGA):c.488G>C (p.Cys163Ser) http://identifiers.org/clinvar/228 ^@ NM_000027.3(AGA):c.800delT (p.Leu267Argfs) http://identifiers.org/clinvar/403 ^@ NM_000353.2(TAT):c.668C>G (p.Ser223Ter) http://identifiers.org/clinvar/435 ^@ NM_000110.3(DPYD):c.85T>C (p.Cys29Arg) http://identifiers.org/clinvar/444 ^@ NM_207581.3(DUOXA2):c.738C>G (p.Tyr246Ter) http://identifiers.org/clinvar/485 ^@ NM_000317.2(PTS):c.163+694_163+748del55 http://identifiers.org/clinvar/494 ^@ NM_000320.2(QDPR):c.449A>G (p.Tyr150Cys) http://identifiers.org/clinvar/904 ^@ NM_000181.3(GUSB):c.1338G>A (p.Trp446Ter) http://identifiers.org/clinvar/937 ^@ NM_000404.3(GLB1):c.247T>C (p.Tyr83His) http://identifiers.org/clinvar/965 ^@ NM_000275.2(OCA2):c.1182G>A (p.Met394Ile) http://identifiers.org/clinvar/1073 ^@ NM_001127897.3(RPGRIP1L):c.1033C>T (p.Gln345Ter) http://identifiers.org/clinvar/1082 ^@ NM_058179.3(PSAT1):c.299A>C (p.Asp100Ala) http://identifiers.org/clinvar/1319 ^@ NM_001174089.1(SLC4A11):c.589T>C (p.Ser197Pro) http://identifiers.org/clinvar/1364 ^@ NM_001142615.2(EHBP1):c.1185+30064G>A http://identifiers.org/clinvar/1455 ^@ NM_000190.3(HMBS):c.100C>A (p.Gln34Lys) http://identifiers.org/clinvar/1546 ^@ NM_000237.2(LPL):c.665G>A (p.Gly222Glu) http://identifiers.org/clinvar/1591 ^@ NM_001127255.1(NLRP7):c.2078G>A (p.Arg693Gln) http://identifiers.org/clinvar/1640 ^@ NM_000382.2(ALDH3A2):c.943C>T (p.Pro315Ser) http://identifiers.org/clinvar/1686 ^@ NM_000528.3(MAN2B1):c.1915C>T (p.Gln639Ter) http://identifiers.org/clinvar/1731 ^@ NM_001099287.1(NIPAL4):c.527C>A (p.Ala176Asp) http://identifiers.org/clinvar/1782 ^@ NM_000102.3(CYP17A1):c.715C>T (p.Arg239Ter) http://identifiers.org/clinvar/1827 ^@ NM_005767.5(LPAR6):c.562A>T (p.Ile188Phe) http://identifiers.org/clinvar/1872 ^@ POU6F2, C-G, EXON 1C, 5-PRIME UTR http://identifiers.org/clinvar/1917 ^@ NM_001017922.1(ERMAP):c.178C>G (p.Pro60Ala) http://identifiers.org/clinvar/1962 ^@ NM_000022.3(ADA):c.226C>T (p.Arg76Trp) http://identifiers.org/clinvar/2006 ^@ NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) http://identifiers.org/clinvar/2051 ^@ NM_152443.2(RDH12):c.379G>T (p.Gly127Ter) http://identifiers.org/clinvar/2097 ^@ NM_000920.3(PC):c.1351C>T (p.Arg451Cys) http://identifiers.org/clinvar/2142 ^@ NIPBL, 1-BP INS, 7306G http://identifiers.org/clinvar/2234 ^@ NM_000551.3(VHL):c.574C>T (p.Pro192Ser) http://identifiers.org/clinvar/2325 ^@ SYNE1, IVS84AS, A-G, -2 http://identifiers.org/clinvar/2370 ^@ NM_213653.3(HFE2):c.302T>C (p.Leu101Pro) http://identifiers.org/clinvar/2416 ^@ NM_032409.2(PINK1):c.1291T>C (p.Tyr431His) http://identifiers.org/clinvar/2461 ^@ NM_000026.3(ADSL):c.1312T>C (p.Ser438Pro) http://identifiers.org/clinvar/2507 ^@ SOX9, 1-BP INS, 783G http://identifiers.org/clinvar/10178 ^@ NM_000132.3(F8):c.554A>C (p.Lys185Thr) http://identifiers.org/clinvar/10222 ^@ NM_000132.3(F8):c.1636C>T (p.Arg546Trp) http://identifiers.org/clinvar/10268 ^@ NM_000132.3(F8):c.5143C>G (p.Arg1715Gly) http://identifiers.org/clinvar/10312 ^@ NM_000132.3(F8):c.6412_6413delTC (p.Ser2138Hisfs) http://identifiers.org/clinvar/10358 ^@ NM_007325.4(GRIA3):c.2117T>C (p.Met706Thr) http://identifiers.org/clinvar/10407 ^@ NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) http://identifiers.org/clinvar/10456 ^@ COL4A5, 450-KB DEL http://identifiers.org/clinvar/10549 ^@ NM_006915.2(RP2):c.353G>T (p.Arg118Leu) http://identifiers.org/clinvar/10639 ^@ NM_000133.3(F9):c.1120G>T (p.Val374Phe) http://identifiers.org/clinvar/10685 ^@ NM_000266.3(NDP):c.206G>C (p.Cys69Ser) http://identifiers.org/clinvar/10775 ^@ NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser) http://identifiers.org/clinvar/10865 ^@ NM_001111125.2(IQSEC2):c.1075C>T (p.Arg359Cys) http://identifiers.org/clinvar/10910 ^@ NM_002351.4(SH2D1A):c.164G>T (p.Arg55Leu) http://identifiers.org/clinvar/10956 ^@ NM_000475.4(NR0B1):c.273C>A (p.Tyr91Ter) http://identifiers.org/clinvar/11420 ^@ NYX, 24-BP DEL http://identifiers.org/clinvar/11470 ^@ NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) http://identifiers.org/clinvar/11522 ^@ NM_000047.2(ARSE):c.36G>C (p.Arg12Ser) http://identifiers.org/clinvar/11572 ^@ PAK3, IVS6DS, A-G, +4 http://identifiers.org/clinvar/12881 ^@ NM_001040142.1(SCN2A):c.3007C>A (p.Leu1003Ile) http://identifiers.org/clinvar/12931 ^@ NM_003052.4(SLC34A1):c.142_143delGCinsTT (p.Ala48Phe) http://identifiers.org/clinvar/12982 ^@ NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) http://identifiers.org/clinvar/13032 ^@ NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) http://identifiers.org/clinvar/225454 ^@ NM_000324.2(RHAG):c.808G>A (p.Val270Ile) http://identifiers.org/clinvar/13084 ^@ NM_000321.2(RB1):c.2212-1G>A http://identifiers.org/clinvar/13134 ^@ RAG2, 3-BP DEL, NT2018 http://identifiers.org/clinvar/13185 ^@ RDX, 1-BP INS, 1404G http://identifiers.org/clinvar/13236 ^@ NM_000119.2(EPB42):c.922+1G>A http://identifiers.org/clinvar/13287 ^@ FGFR2, ALU INS http://identifiers.org/clinvar/13338 ^@ NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) http://identifiers.org/clinvar/13391 ^@ NM_000207.2(INS):c.137G>A (p.Arg46Gln) http://identifiers.org/clinvar/13443 ^@ NM_000371.3(TTR):c.270A>C (p.Lys90Asn) http://identifiers.org/clinvar/13494 ^@ NM_000217.2(KCNA1):c.763A>G (p.Asn255Asp) http://identifiers.org/clinvar/13544 ^@ NM_006206.4(PDGFRA):c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del) http://identifiers.org/clinvar/36720 ^@ NM_000536.3(RAG2):c.328A>C (p.Met110Leu) http://identifiers.org/clinvar/36773 ^@ NM_000451.3(SHOX):c.279G>T (p.Gly93=) http://identifiers.org/clinvar/36823 ^@ NM_000545.6(HNF1A):c.518_526+37del46 http://identifiers.org/clinvar/36873 ^@ NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) http://identifiers.org/clinvar/36926 ^@ NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) http://identifiers.org/clinvar/37036 ^@ NM_005022.3(PFN1):c.353G>T (p.Gly118Val) http://identifiers.org/clinvar/37100 ^@ FAN1, 2-BP DEL, 2774TT http://identifiers.org/clinvar/37235 ^@ VPS13A, TRP435TER http://identifiers.org/clinvar/37314 ^@ NM_005340.6(HINT1):c.266G>T (p.Gly89Val) http://identifiers.org/clinvar/37398 ^@ NM_007294.3(BRCA1):c.1202G>A (p.Gly401Glu) http://identifiers.org/clinvar/37450 ^@ NM_007294.3(BRCA1):c.213-12A>G http://identifiers.org/clinvar/37504 ^@ NM_007294.3(BRCA1):c.3055A>G (p.Ile1019Val) http://identifiers.org/clinvar/37561 ^@ NM_007294.3(BRCA1):c.4036G>A (p.Glu1346Lys) http://identifiers.org/clinvar/37612 ^@ NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) http://identifiers.org/clinvar/37668 ^@ NM_007294.3(BRCA1):c.5408G>C (p.Gly1803Ala) http://identifiers.org/clinvar/37722 ^@ NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) http://identifiers.org/clinvar/37773 ^@ NM_000059.3(BRCA2):c.2036delA (p.Asn679Ilefs) http://identifiers.org/clinvar/37826 ^@ NM_000059.3(BRCA2):c.3170_3174delAGAAA (p.Lys1057Thrfs) http://identifiers.org/clinvar/37878 ^@ NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) http://identifiers.org/clinvar/37931 ^@ NM_000059.3(BRCA2):c.4910T>G (p.Val1637Gly) http://identifiers.org/clinvar/37985 ^@ NM_000059.3(BRCA2):c.5655C>A (p.Cys1885Ter) http://identifiers.org/clinvar/38037 ^@ NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) http://identifiers.org/clinvar/38090 ^@ NM_000059.3(BRCA2):c.7342_7343delAA (p.Lys2448Aspfs) http://identifiers.org/clinvar/38140 ^@ NM_000059.3(BRCA2):c.8153T>C (p.Ile2718Thr) http://identifiers.org/clinvar/38190 ^@ NM_000059.3(BRCA2):c.8869C>T (p.Gln2957Ter) http://identifiers.org/clinvar/38240 ^@ NM_000059.3(BRCA2):c.9435_9436delGT (p.Ser3147Cysfs) http://identifiers.org/clinvar/38302 ^@ NM_000168.5(GLI3):c.1998_2001delCCGA (p.Pro668Leufs) http://identifiers.org/clinvar/39681 ^@ NM_001164232.1(DDHD2):c.859C>T (p.Arg287Ter) http://identifiers.org/clinvar/40370 ^@ NM_004333.4(BRAF):c.1454T>C (p.Leu485Ser) http://identifiers.org/clinvar/40438 ^@ NM_005343.3(HRAS):c.266C>G (p.Ser89Cys) http://identifiers.org/clinvar/40506 ^@ NM_002834.4(PTPN11):c.317A>C (p.Asp106Ala) http://identifiers.org/clinvar/40562 ^@ NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) http://identifiers.org/clinvar/40627 ^@ NM_002880.3(RAF1):c.1830A>G (p.Gln610=) http://identifiers.org/clinvar/40706 ^@ NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) http://identifiers.org/clinvar/40793 ^@ NM_030662.3(MAP2K2):c.405G>C (p.Gly135=) http://identifiers.org/clinvar/40990 ^@ NM_000095.2(COMP):c.1586C>T (p.Thr529Ile) http://identifiers.org/clinvar/41050 ^@ NM_003611.2(OFD1):c.(?_-360)_828+?del http://identifiers.org/clinvar/41103 ^@ NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys) http://identifiers.org/clinvar/41159 ^@ NM_003977.3(AIP):c.-5G>C http://identifiers.org/clinvar/41212 ^@ NM_003977.3(AIP):c.829G>C (p.Ala277Pro) http://identifiers.org/clinvar/51170 ^@ NM_000059.3(BRCA2):c.1670T>G (p.Leu557Ter) http://identifiers.org/clinvar/51221 ^@ NM_000059.3(BRCA2):c.1889delC (p.Thr630Asnfs) http://identifiers.org/clinvar/51273 ^@ NM_000059.3(BRCA2):c.2372C>A (p.Ser791Ter) http://identifiers.org/clinvar/51324 ^@ NM_000059.3(BRCA2):c.266delC (p.Pro89Argfs) http://identifiers.org/clinvar/51374 ^@ NM_000059.3(BRCA2):c.292T>G (p.Leu98Val) http://identifiers.org/clinvar/51424 ^@ NM_000059.3(BRCA2):c.3211C>T (p.His1071Tyr) http://identifiers.org/clinvar/51476 ^@ NM_000059.3(BRCA2):c.3499A>G (p.Ile1167Val) http://identifiers.org/clinvar/51527 ^@ NM_000059.3(BRCA2):c.37G>T (p.Glu13Ter) http://identifiers.org/clinvar/51579 ^@ NM_000059.3(BRCA2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/51631 ^@ NM_000059.3(BRCA2):c.4318A>G (p.Lys1440Glu) http://identifiers.org/clinvar/51681 ^@ NM_000059.3(BRCA2):c.4593dupA (p.Val1532Serfs) http://identifiers.org/clinvar/51733 ^@ NM_000059.3(BRCA2):c.488_489delGT (p.Ser163Ilefs) http://identifiers.org/clinvar/51785 ^@ NM_000059.3(BRCA2):c.516+18T>G http://identifiers.org/clinvar/51836 ^@ NM_000059.3(BRCA2):c.5286T>A (p.Tyr1762Ter) http://identifiers.org/clinvar/51889 ^@ NM_000059.3(BRCA2):c.5602G>T (p.Asp1868Tyr) http://identifiers.org/clinvar/51941 ^@ NM_000059.3(BRCA2):c.5799_5800delCC (p.Asn1933Lysfs) http://identifiers.org/clinvar/51993 ^@ NM_000059.3(BRCA2):c.6033_6034delTT (p.Ser2012Glnfs) http://identifiers.org/clinvar/52044 ^@ NM_000059.3(BRCA2):c.6276delT (p.His2093Thrfs) http://identifiers.org/clinvar/52097 ^@ NM_000059.3(BRCA2):c.6443_6444delCT (p.Ser2148Tyrfs) http://identifiers.org/clinvar/52149 ^@ NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) http://identifiers.org/clinvar/52199 ^@ NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) http://identifiers.org/clinvar/52250 ^@ NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) http://identifiers.org/clinvar/52402 ^@ NM_000059.3(BRCA2):c.775A>T (p.Arg259Ter) http://identifiers.org/clinvar/52452 ^@ NM_000059.3(BRCA2):c.7976+1G>A http://identifiers.org/clinvar/52502 ^@ NM_000059.3(BRCA2):c.8087delT (p.Leu2696Terfs) http://identifiers.org/clinvar/52553 ^@ NM_000059.3(BRCA2):c.8332-1G>C http://identifiers.org/clinvar/52603 ^@ NM_000059.3(BRCA2):c.8487+3A>G http://identifiers.org/clinvar/52655 ^@ NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) http://identifiers.org/clinvar/52705 ^@ NM_000059.3(BRCA2):c.8944A>C (p.Lys2982Gln) http://identifiers.org/clinvar/52756 ^@ NM_000059.3(BRCA2):c.9117+2T>A http://identifiers.org/clinvar/55953 ^@ NM_000027.3(AGA):c.770C>T (p.Thr257Ile) http://identifiers.org/clinvar/56004 ^@ NM_000111.2(SLC26A3):c.571-1G>T http://identifiers.org/clinvar/56057 ^@ NM_000170.2(GLDC):c.2080G>C (p.Ala694Pro) http://identifiers.org/clinvar/56716 ^@ NM_018941.3(CLN8):c.637_639delTGG (p.Trp213del) http://identifiers.org/clinvar/56766 ^@ NM_153704.5(TMEM67):c.1336G>C (p.Asp446His) http://identifiers.org/clinvar/56891 ^@ NM_006563.4(KLF1):c.892G>C (p.Ala298Pro) http://identifiers.org/clinvar/57026 ^@ GRCh38/hg38 9p24.3(chr9:204193-1516367)x1 http://identifiers.org/clinvar/57081 ^@ GRCh38/hg38 3q22.3(chr3:138946408-138948348)x1 http://identifiers.org/clinvar/57135 ^@ GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3 http://identifiers.org/clinvar/57186 ^@ GRCh38/hg38 20q13.33(chr20:64157529-64277321)x3 http://identifiers.org/clinvar/57239 ^@ GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 http://identifiers.org/clinvar/57345 ^@ GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 http://identifiers.org/clinvar/57397 ^@ GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 http://identifiers.org/clinvar/101414 ^@ NM_000090.3(COL3A1):c.1410delT (p.Gly471Glufs) http://identifiers.org/clinvar/101464 ^@ NM_000090.3(COL3A1):c.1610delG (p.Gly537Alafs) http://identifiers.org/clinvar/101520 ^@ NM_198173.2(GRHL3):c.1171C>T (p.Arg391Cys) http://identifiers.org/clinvar/102477 ^@ NM_000277.1(PAH):c.1028A>G (p.Tyr343Cys) http://identifiers.org/clinvar/102532 ^@ NM_000277.1(PAH):c.1127delA (p.Asn376Ilefs) http://identifiers.org/clinvar/102585 ^@ NM_000277.1(PAH):c.1289T>C (p.Leu430Pro) http://identifiers.org/clinvar/102639 ^@ NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) http://identifiers.org/clinvar/102692 ^@ NM_000277.1(PAH):c.471A>C (p.Arg157Ser) http://identifiers.org/clinvar/102742 ^@ NM_000277.1(PAH):c.581T>C (p.Leu194Pro) http://identifiers.org/clinvar/102793 ^@ NM_000277.1(PAH):c.707-1G>A http://identifiers.org/clinvar/102843 ^@ NM_000277.1(PAH):c.806T>A (p.Ile269Asn) http://identifiers.org/clinvar/102895 ^@ NM_000277.1(PAH):c.922C>G (p.Leu308Val) http://identifiers.org/clinvar/102953 ^@ NM_000246.3(CIITA):c.-696C>T http://identifiers.org/clinvar/103003 ^@ NM_000246.3(CIITA):c.3063-163T>C http://identifiers.org/clinvar/103053 ^@ NM_001174081.2(NLRP2):c.2201+215C>A http://identifiers.org/clinvar/103103 ^@ NM_006092.2(NOD1):c.2537+169A>C http://identifiers.org/clinvar/103153 ^@ NM_032206.4(NLRC5):c.*3G>A http://identifiers.org/clinvar/103203 ^@ NM_032206.4(NLRC5):c.5004-59G>C http://identifiers.org/clinvar/103253 ^@ NM_138329.2(NLRP6):c.311-42G>C http://identifiers.org/clinvar/103303 ^@ NM_153447.4(NLRP5):c.790C>G (p.Gln264Glu) http://identifiers.org/clinvar/103353 ^@ NM_176822.3(NLRP14):c.609C>A (p.Gly203=) http://identifiers.org/clinvar/111227 ^@ NM_000619.2(IFNG):c.367-227G>C http://identifiers.org/clinvar/120087 ^@ NM_000698.4(ALOX5):c.1273-34C>T http://identifiers.org/clinvar/120239 ^@ NM_017637.5(BNC2):c.2789A>G (p.Asp930Gly) http://identifiers.org/clinvar/120289 ^@ NM_000277.1(PAH):c.841C>G (p.Pro281Ala) http://identifiers.org/clinvar/125446 ^@ NM_001080442.2(SLC38A8):c.697G>A (p.Glu233Lys) http://identifiers.org/clinvar/125513 ^@ NM_007294.3(BRCA1):c.1812delA (p.Ala605Hisfs) http://identifiers.org/clinvar/125594 ^@ NM_007294.3(BRCA1):c.2871_2872insA (p.Phe958Ilefs) http://identifiers.org/clinvar/125669 ^@ NM_007294.3(BRCA1):c.302-2_302-1del http://identifiers.org/clinvar/125730 ^@ NM_007294.3(BRCA1):c.4764_4765delTC (p.Arg1589Cysfs) http://identifiers.org/clinvar/126398 ^@ NM_006397.2(RNASEH2A):c.690C>A (p.Phe230Leu) http://identifiers.org/clinvar/126466 ^@ NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) http://identifiers.org/clinvar/126529 ^@ NM_152305.2(POGLUT1):c.652C>T (p.Arg218Ter) http://identifiers.org/clinvar/126603 ^@ NM_024675.3(PALB2):c.1461C>T (p.Val487=) http://identifiers.org/clinvar/126655 ^@ NM_024675.3(PALB2):c.2514+3A>G http://identifiers.org/clinvar/126705 ^@ NM_024675.3(PALB2):c.3024C>T (p.Pro1008=) http://identifiers.org/clinvar/126755 ^@ NM_024675.3(PALB2):c.505C>A (p.Leu169Ile) http://identifiers.org/clinvar/126806 ^@ NM_000321.2(RB1):c.2525dupC (p.Glu843Terfs) http://identifiers.org/clinvar/126859 ^@ NM_004996.3(ABCC1):c.2168G>A (p.Arg723Gln) http://identifiers.org/clinvar/126916 ^@ NM_001127464.2(ZNF469):c.10489G>A (p.Glu3497Lys) http://identifiers.org/clinvar/126966 ^@ NM_017849.3(TMEM127):c.265_268delACAG (p.Thr89Cysfs) http://identifiers.org/clinvar/127016 ^@ NM_002485.4(NBN):c.172-448A>G http://identifiers.org/clinvar/127066 ^@ NM_001399.4(EDA):c.956G>T (p.Ser319Ile) http://identifiers.org/clinvar/127136 ^@ NM_002234.3(KCNA5):c.913G>A (p.Ala305Thr) http://identifiers.org/clinvar/127236 ^@ NM_022166.3(XYLT1):c.439C>T (p.Arg147Ter) http://identifiers.org/clinvar/127290 ^@ NM_000038.5(APC):c.3632T>C (p.Met1211Thr) http://identifiers.org/clinvar/127340 ^@ NM_000051.3(ATM):c.1564_1565delGA (p.Glu522Ilefs) http://identifiers.org/clinvar/127390 ^@ NM_000051.3(ATM):c.4414T>G (p.Leu1472Val) http://identifiers.org/clinvar/127440 ^@ NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) http://identifiers.org/clinvar/127491 ^@ NM_000057.3(BLM):c.2695C>T (p.Arg899Ter) http://identifiers.org/clinvar/127541 ^@ NM_000136.2(FANCC):c.395C>G (p.Ala132Gly) http://identifiers.org/clinvar/127591 ^@ NM_000179.2(MSH6):c.3758T>A (p.Val1253Glu) http://identifiers.org/clinvar/127642 ^@ NM_000251.2(MSH2):c.328A>C (p.Lys110Gln) http://identifiers.org/clinvar/127701 ^@ NM_000455.4(STK11):c.1229C>T (p.Ala410Val) http://identifiers.org/clinvar/127751 ^@ NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) http://identifiers.org/clinvar/127802 ^@ NM_000535.6(PMS2):c.989-1G>T http://identifiers.org/clinvar/159480 ^@ NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) http://identifiers.org/clinvar/177977 ^@ NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) http://identifiers.org/clinvar/179436 ^@ NM_001035.2(RYR2):c.2711A>G (p.Tyr904Cys) http://identifiers.org/clinvar/179236 ^@ NM_001035.2(RYR2):c.9198G>A (p.Glu3066=) http://identifiers.org/clinvar/179486 ^@ NM_133378.4(TTN):c.94307T>A (p.Leu31436Gln) http://identifiers.org/clinvar/179836 ^@ NM_001256850.1(TTN):c.96634A>G (p.Lys32212Glu) http://identifiers.org/clinvar/178936 ^@ NM_133378.4(TTN):c.90824G>A (p.Trp30275Ter) http://identifiers.org/clinvar/179886 ^@ NM_133378.4(TTN):c.80593G>C (p.Asp26865His) http://identifiers.org/clinvar/179686 ^@ NM_133378.4(TTN):c.76694A>G (p.Asn25565Ser) http://identifiers.org/clinvar/179586 ^@ NM_133378.4(TTN):c.53445G>C (p.Lys17815Asn) http://identifiers.org/clinvar/179036 ^@ NM_001256850.1(TTN):c.101897C>T (p.Ala33966Val) http://identifiers.org/clinvar/179636 ^@ NM_133378.4(TTN):c.96026A>G (p.Gln32009Arg) http://identifiers.org/clinvar/179336 ^@ NM_133378.4(TTN):c.44035+1G>C http://identifiers.org/clinvar/179736 ^@ NM_133378.4(TTN):c.1208G>C (p.Ser403Thr) http://identifiers.org/clinvar/179286 ^@ NM_001927.3(DES):c.243C>T (p.Ser81=) http://identifiers.org/clinvar/163147 ^@ NM_001369.2(DNAH5):c.5907T>C (p.Ala1969=) http://identifiers.org/clinvar/163696 ^@ NM_001199799.1(ILDR1):c.1360G>A (p.Glu454Lys) http://identifiers.org/clinvar/179086 ^@ NM_002880.3(RAF1):c.834+8G>A http://identifiers.org/clinvar/164486 ^@ NM_000258.2(MYL3):c.482-1G>A http://identifiers.org/clinvar/178028 ^@ NM_004415.3(DSP):c.3923G>A (p.Arg1308Gln) http://identifiers.org/clinvar/164645 ^@ NM_004999.3(MYO6):c.3270T>C (p.Asn1090=) http://identifiers.org/clinvar/177776 ^@ NM_004333.4(BRAF):c.1742A>G (p.Asn581Ser) http://identifiers.org/clinvar/163097 ^@ NM_001277115.1(DNAH11):c.1956C>T (p.Phe652=) http://identifiers.org/clinvar/179786 ^@ NM_015404.3(WHRN):c.725G>A (p.Arg242His) http://identifiers.org/clinvar/163615 ^@ NM_032119.3(ADGRV1):c.13714A>T (p.Ile4572Phe) http://identifiers.org/clinvar/198423 ^@ NM_000478.5(ALPL):c.787T>C (p.Tyr263His) http://identifiers.org/clinvar/198473 ^@ NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) http://identifiers.org/clinvar/198527 ^@ NM_005199.4(CHRNG):c.775G>A (p.Ala259Thr) http://identifiers.org/clinvar/198578 ^@ NM_020166.4(MCCC1):c.640-2A>G http://identifiers.org/clinvar/198631 ^@ NM_198859.3(PRICKLE2):c.788-6T>C http://identifiers.org/clinvar/198681 ^@ NM_033071.3(SYNE1):c.15124G>A (p.Val5042Ile) http://identifiers.org/clinvar/198788 ^@ NM_004006.2(DMD):c.733A>G (p.Ile245Val) http://identifiers.org/clinvar/198841 ^@ NM_006416.4(SLC35A1):c.890T>G (p.Leu297Arg) http://identifiers.org/clinvar/201193 ^@ NM_001035.2(RYR2):c.499A>G (p.Lys167Glu) http://identifiers.org/clinvar/201248 ^@ NM_001035.2(RYR2):c.4585A>C (p.Thr1529Pro) http://identifiers.org/clinvar/201302 ^@ NM_001035.2(RYR2):c.10528C>A (p.Arg3510Ser) http://identifiers.org/clinvar/201359 ^@ NM_001035.2(RYR2):c.14623G>C (p.Asp4875His) http://identifiers.org/clinvar/201529 ^@ NM_198056.2(SCN5A):c.5140G>A (p.Asp1714Asn) http://identifiers.org/clinvar/201586 ^@ NM_198056.2(SCN5A):c.3709G>A (p.Val1237Ile) http://identifiers.org/clinvar/201470 ^@ NM_198056.2(SCN5A):c.2177G>A (p.Cys726Tyr) http://identifiers.org/clinvar/201416 ^@ NM_198056.2(SCN5A):c.1821C>T (p.Gly607=) http://identifiers.org/clinvar/200319 ^@ NM_000238.3(KCNH2):c.1043T>A (p.Phe348Tyr) http://identifiers.org/clinvar/201125 ^@ NM_181832.2(NF2):c.1540A>G (p.Met514Val) http://identifiers.org/clinvar/201643 ^@ NM_001103.3(ACTN2):c.1799G>A (p.Ser600Asn) http://identifiers.org/clinvar/201917 ^@ NM_144573.3(NEXN):c.512T>C (p.Ile171Thr) http://identifiers.org/clinvar/201698 ^@ NM_001927.3(DES):c.-44G>A http://identifiers.org/clinvar/202089 ^@ NM_000337.5(SGCD):c.755C>T (p.Thr252Met) http://identifiers.org/clinvar/202146 ^@ NM_014000.2(VCL):c.2000C>T (p.Thr667Met) http://identifiers.org/clinvar/202032 ^@ NM_004572.3(PKP2):c.1843T>A (p.Ser615Thr) http://identifiers.org/clinvar/201970 ^@ NM_004572.3(PKP2):c.369G>A (p.Trp123Ter) http://identifiers.org/clinvar/201809 ^@ NM_002230.2(JUP):c.286G>A (p.Glu96Lys) http://identifiers.org/clinvar/201862 ^@ NM_033118.3(MYLK2):c.310C>T (p.Pro104Ser) http://identifiers.org/clinvar/201753 ^@ NM_004006.2(DMD):c.5869C>T (p.Arg1957Trp) http://identifiers.org/clinvar/202200 ^@ NM_000179.2(MSH6):c.175C>A (p.Pro59Thr) http://identifiers.org/clinvar/202429 ^@ NM_001256850.1(TTN):c.96304C>T (p.Arg32102Ter) http://identifiers.org/clinvar/202543 ^@ NM_001256850.1(TTN):c.94261_94262dupGG (p.Leu31422Valfs) http://identifiers.org/clinvar/202485 ^@ NM_001256850.1(TTN):c.82495_82496delCCinsTGTTATTAGTGATATATCTAA (p.Pro27499Cysfs) http://identifiers.org/clinvar/202323 ^@ NM_001256850.1(TTN):c.67018G>A (p.Glu22340Lys) http://identifiers.org/clinvar/232511 ^@ NM_000038.5(APC):c.5262T>A (p.Ser1754=) http://identifiers.org/clinvar/233212 ^@ NM_000038.5(APC):c.5539A>G (p.Thr1847Ala) http://identifiers.org/clinvar/231122 ^@ NM_005732.3(RAD50):c.2658A>G (p.Gln886=) http://identifiers.org/clinvar/232461 ^@ NM_000535.6(PMS2):c.1668A>G (p.Glu556=) http://identifiers.org/clinvar/230822 ^@ NM_000535.6(PMS2):c.1586C>T (p.Ser529Leu) http://identifiers.org/clinvar/231811 ^@ NM_000535.6(PMS2):c.321G>A (p.Arg107=) http://identifiers.org/clinvar/230522 ^@ NM_002485.4(NBN):c.1910T>A (p.Ile637Lys) http://identifiers.org/clinvar/232411 ^@ NM_002485.4(NBN):c.366C>T (p.Val122=) http://identifiers.org/clinvar/232812 ^@ NM_000314.6(PTEN):c.294A>G (p.Leu98=) http://identifiers.org/clinvar/232862 ^@ NM_000051.3(ATM):c.2987A>G (p.His996Arg) http://identifiers.org/clinvar/232712 ^@ NM_000051.3(ATM):c.8158G>A (p.Asp2720Asn) http://identifiers.org/clinvar/232612 ^@ NM_000051.3(ATM):c.8287C>T (p.Arg2763Ter) http://identifiers.org/clinvar/232762 ^@ NM_000051.3(ATM):c.8800A>G (p.Thr2934Ala) http://identifiers.org/clinvar/232561 ^@ NM_017841.2(SDHAF2):c.309C>A (p.Asn103Lys) http://identifiers.org/clinvar/230872 ^@ NM_005591.3(MRE11):c.1390A>G (p.Lys464Glu) http://identifiers.org/clinvar/233262 ^@ NM_005591.3(MRE11):c.806C>G (p.Ser269Ter) http://identifiers.org/clinvar/232962 ^@ NM_005591.3(MRE11):c.804C>T (p.Ser268=) http://identifiers.org/clinvar/230122 ^@ NM_000059.3(BRCA2):c.1871C>G (p.Ala624Gly) http://identifiers.org/clinvar/232261 ^@ NM_000059.3(BRCA2):c.3636_3639delTGAA (p.Asn1212Lysfs) http://identifiers.org/clinvar/232211 ^@ NM_000059.3(BRCA2):c.3803C>T (p.Ser1268Phe) http://identifiers.org/clinvar/233112 ^@ NM_000059.3(BRCA2):c.4003G>T (p.Glu1335Ter) http://identifiers.org/clinvar/230322 ^@ NM_000059.3(BRCA2):c.6755C>G (p.Ser2252Cys) http://identifiers.org/clinvar/230922 ^@ NM_000059.3(BRCA2):c.8771A>G (p.Glu2924Gly) http://identifiers.org/clinvar/232311 ^@ NM_000548.4(TSC2):c.2123T>C (p.Leu708Pro) http://identifiers.org/clinvar/231961 ^@ NM_024675.3(PALB2):c.3113+5G>C http://identifiers.org/clinvar/229922 ^@ NM_024675.3(PALB2):c.773G>A (p.Ser258Asn) http://identifiers.org/clinvar/232361 ^@ NM_024675.3(PALB2):c.663A>G (p.Val221=) http://identifiers.org/clinvar/233012 ^@ NM_004360.4(CDH1):c.105G>A (p.Glu35=) http://identifiers.org/clinvar/229822 ^@ NM_004360.4(CDH1):c.1313C>G (p.Thr438Arg) http://identifiers.org/clinvar/230972 ^@ NM_004360.4(CDH1):c.1636G>A (p.Ala546Thr) http://identifiers.org/clinvar/231222 ^@ NM_001042492.2(NF1):c.843C>T (p.Ile281=) http://identifiers.org/clinvar/231911 ^@ NM_001042492.2(NF1):c.2555T>G (p.Leu852Arg) http://identifiers.org/clinvar/231861 ^@ NM_001042492.2(NF1):c.3490T>G (p.Ser1164Ala) http://identifiers.org/clinvar/231172 ^@ NM_001042492.2(NF1):c.3672G>A (p.Ala1224=) http://identifiers.org/clinvar/232161 ^@ NM_001042492.2(NF1):c.5091G>C (p.Leu1697=) http://identifiers.org/clinvar/230622 ^@ NM_001042492.2(NF1):c.7610T>C (p.Leu2537Ser) http://identifiers.org/clinvar/230272 ^@ NM_001042492.2(NF1):c.8001C>A (p.Thr2667=) http://identifiers.org/clinvar/233062 ^@ NM_001042492.2(NF1):c.8324A>C (p.Asn2775Thr) http://identifiers.org/clinvar/230772 ^@ NM_002878.3(RAD51D):c.806G>T (p.Ser269Ile) http://identifiers.org/clinvar/232662 ^@ NM_002878.3(RAD51D):c.163C>A (p.Arg55=) http://identifiers.org/clinvar/232061 ^@ NM_007294.3(BRCA1):c.5277G>T (p.Lys1759Asn) http://identifiers.org/clinvar/229872 ^@ NM_007294.3(BRCA1):c.3345A>C (p.Glu1115Asp) http://identifiers.org/clinvar/230222 ^@ NM_007294.3(BRCA1):c.3169A>C (p.Ser1057Arg) http://identifiers.org/clinvar/233662 ^@ NM_007294.3(BRCA1):c.2793G>A (p.Val931=) http://identifiers.org/clinvar/230372 ^@ NM_032043.2(BRIP1):c.1536G>A (p.Glu512=) http://identifiers.org/clinvar/230722 ^@ NM_032043.2(BRIP1):c.1045G>T (p.Ala349Ser) http://identifiers.org/clinvar/231272 ^@ NM_032043.2(BRIP1):c.559G>T (p.Val187Phe) http://identifiers.org/clinvar/230472 ^@ NM_000455.4(STK11):c.33G>T (p.Met11Ile) http://identifiers.org/clinvar/231022 ^@ NM_007194.3(CHEK2):c.1401G>C (p.Leu467Phe) http://identifiers.org/clinvar/232111 ^@ NM_007194.3(CHEK2):c.962A>C (p.Glu321Ala) http://identifiers.org/clinvar/242001 ^@ NM_170707.3(LMNA):c.1155G>A (p.Glu385=) http://identifiers.org/clinvar/245859 ^@ NM_002977.3(SCN9A):c.2318C>G (p.Thr773Ser) http://identifiers.org/clinvar/238857 ^@ NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) http://identifiers.org/clinvar/238807 ^@ NM_001267550.2(TTN):c.57864T>G (p.Pro19288=) http://identifiers.org/clinvar/238757 ^@ NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) http://identifiers.org/clinvar/238707 ^@ NM_001267550.2(TTN):c.13817C>G (p.Pro4606Arg) http://identifiers.org/clinvar/240951 ^@ NM_014946.3(SPAST):c.1593A>G (p.Gln531=) http://identifiers.org/clinvar/237418 ^@ NM_000251.2(MSH2):c.961A>T (p.Thr321Ser) http://identifiers.org/clinvar/237367 ^@ NM_000251.2(MSH2):c.1378A>G (p.Met460Val) http://identifiers.org/clinvar/237217 ^@ NM_000179.2(MSH6):c.958C>T (p.Pro320Ser) http://identifiers.org/clinvar/237166 ^@ NM_000179.2(MSH6):c.2804_2805delCT (p.Ser935Terfs) http://identifiers.org/clinvar/238557 ^@ NM_001135659.2(NRXN1):c.2949A>G (p.Leu983=) http://identifiers.org/clinvar/241251 ^@ NM_018062.3(FANCL):c.4G>T (p.Ala2Ser) http://identifiers.org/clinvar/241001 ^@ NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) http://identifiers.org/clinvar/238107 ^@ NM_000551.3(VHL):c.408T>G (p.Phe136Leu) http://identifiers.org/clinvar/241751 ^@ NM_053025.3(MYLK):c.1400C>G (p.Ala467Gly) http://identifiers.org/clinvar/239408 ^@ NM_002880.3(RAF1):c.892A>C (p.Asn298His) http://identifiers.org/clinvar/237317 ^@ NM_000249.3(MLH1):c.1667+2T>C http://identifiers.org/clinvar/242201 ^@ NM_198056.2(SCN5A):c.5226C>T (p.Cys1742=) http://identifiers.org/clinvar/238607 ^@ NM_001166110.1(PALLD):c.1211G>A (p.Arg404His) http://identifiers.org/clinvar/237267 ^@ NM_000222.2(KIT):c.2622G>C (p.Pro874=) http://identifiers.org/clinvar/238957 ^@ NM_001369.2(DNAH5):c.11231C>A (p.Thr3744Asn) http://identifiers.org/clinvar/241501 ^@ NM_024577.3(SH3TC2):c.1861C>T (p.Arg621Cys) http://identifiers.org/clinvar/238657 ^@ NM_001206927.1(DNAH8):c.9194+1G>A http://identifiers.org/clinvar/241401 ^@ NM_021930.5(RINT1):c.2003T>C (p.Phe668Ser) http://identifiers.org/clinvar/238907 ^@ NM_001277115.1(DNAH11):c.3714T>G (p.Pro1238=) http://identifiers.org/clinvar/261800 ^@ NM_025074.6(FRAS1):c.109-15delT http://identifiers.org/clinvar/258510 ^@ NM_001999.3(FBN2):c.2363G>A (p.Arg788His) http://identifiers.org/clinvar/261600 ^@ NM_022464.4(SIL1):c.-6C>G http://identifiers.org/clinvar/255871 ^@ NM_000337.5(SGCD):c.700-19T>C http://identifiers.org/clinvar/263039 ^@ NM_182925.4(FLT4):c.2670C>G (p.His890Gln) http://identifiers.org/clinvar/257371 ^@ NM_001080479.2(ARHGEF28):c.4388G>A (p.Arg1463Gln) http://identifiers.org/clinvar/260450 ^@ NM_014845.5(FIG4):c.447-16G>T http://identifiers.org/clinvar/256071 ^@ NM_000426.3(LAMA2):c.4718-37G>A http://identifiers.org/clinvar/262200 ^@ NM_033071.3(SYNE1):c.7734-49G>A http://identifiers.org/clinvar/261100 ^@ NM_019105.6(TNXB):c.10922-16C>T http://identifiers.org/clinvar/261150 ^@ NM_019105.6(TNXB):c.6696C>T (p.Asp2232=) http://identifiers.org/clinvar/257571 ^@ NM_001145717.1(PNPLA1):c.1564T>C (p.Ser522Pro) http://identifiers.org/clinvar/258360 ^@ NM_001851.4(COL9A1):c.801+11G>C http://identifiers.org/clinvar/260500 ^@ NM_014989.5(RIMS1):c.666A>G (p.Leu222=) http://identifiers.org/clinvar/257271 ^@ NM_001040167.1(LFNG):c.972G>A (p.Ser324=) http://identifiers.org/clinvar/261050 ^@ NM_018685.4(ANLN):c.553A>C (p.Arg185=) http://identifiers.org/clinvar/256221 ^@ NM_000466.2(PEX1):c.358-11G>C http://identifiers.org/clinvar/256171 ^@ NM_000445.4(PLEC):c.255+22G>C http://identifiers.org/clinvar/259260 ^@ NM_004260.3(RECQL4):c.3393+9A>G http://identifiers.org/clinvar/261300 ^@ NM_020476.2(ANK1):c.237C>T (p.Asn79=) http://identifiers.org/clinvar/259110 ^@ NM_003640.4(IKBKAP):c.3037G>A (p.Gly1013Ser) http://identifiers.org/clinvar/261200 ^@ NM_019892.5(INPP5E):c.1802+49G>A http://identifiers.org/clinvar/262100 ^@ NM_032634.3(PIGO):c.512-17C>T http://identifiers.org/clinvar/257521 ^@ NM_001128227.2(GNE):c.1163+36A>C http://identifiers.org/clinvar/256321 ^@ NM_000507.3(FBP1):c.567+31G>A http://identifiers.org/clinvar/255671 ^@ NM_000264.3(PTCH1):c.1710G>T (p.Leu570=) http://identifiers.org/clinvar/256271 ^@ NM_000494.3(COL17A1):c.2904A>G (p.Pro968=) http://identifiers.org/clinvar/262150 ^@ NM_033056.3(PCDH15):c.319-31T>C http://identifiers.org/clinvar/261550 ^@ NM_022124.5(CDH23):c.4846-49T>C http://identifiers.org/clinvar/258810 ^@ NM_002778.3(PSAP):c.1380C>T (p.Pro460=) http://identifiers.org/clinvar/259410 ^@ NM_004523.3(KIF11):c.2770+16A>G http://identifiers.org/clinvar/259460 ^@ NM_004621.5(TRPC6):c.2529C>T (p.Phe843=) http://identifiers.org/clinvar/262989 ^@ NM_181507.1(HPS5):c.825-16T>C http://identifiers.org/clinvar/263289 ^@ NM_207122.1(EXT2):c.1663-566A>G http://identifiers.org/clinvar/261750 ^@ NM_024649.4(BBS1):c.378G>A (p.Leu126=) http://identifiers.org/clinvar/258560 ^@ NM_002180.2(IGHMBP2):c.1554C>T (p.Val518=) http://identifiers.org/clinvar/261250 ^@ NM_020376.3(PNPLA2):c.943C>T (p.Pro315Ser) http://identifiers.org/clinvar/258660 ^@ NM_002465.3(MYBPC1):c.191T>C (p.Val64Ala) http://identifiers.org/clinvar/259060 ^@ NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) http://identifiers.org/clinvar/256671 ^@ NM_000552.4(VWF):c.3539-33G>A http://identifiers.org/clinvar/261850 ^@ NM_025114.3(CEP290):c.6136-19T>G http://identifiers.org/clinvar/262250 ^@ NM_052867.2(NALCN):c.1593C>T (p.Val531=) http://identifiers.org/clinvar/258260 ^@ NM_001845.5(COL4A1):c.4800C>T (p.Ser1600=) http://identifiers.org/clinvar/255821 ^@ NM_000321.2(RB1):c.1390-11A>G http://identifiers.org/clinvar/258710 ^@ NM_002471.3(MYH6):c.4526-34T>C http://identifiers.org/clinvar/257121 ^@ NM_001024858.2(SPTB):c.4564-4G>A http://identifiers.org/clinvar/256821 ^@ NM_000814.5(GABRB3):c.783G>A (p.Ser261=) http://identifiers.org/clinvar/255721 ^@ NM_000275.2(OCA2):c.144G>A (p.Ser48=) http://identifiers.org/clinvar/332506 ^@ NM_002148.3(HOXD10):c.*495A>T http://identifiers.org/clinvar/332906 ^@ NM_133378.4(TTN):c.23922T>G (p.Val7974=) http://identifiers.org/clinvar/332956 ^@ NM_133378.4(TTN):c.4668G>A (p.Pro1556=) http://identifiers.org/clinvar/335097 ^@ NM_004369.3(COL6A3):c.9148G>A (p.Ala3050Thr) http://identifiers.org/clinvar/335147 ^@ NM_004369.3(COL6A3):c.91+15C>T http://identifiers.org/clinvar/333106 ^@ NM_000393.4(COL5A2):c.*1402T>G http://identifiers.org/clinvar/336036 ^@ NM_022436.2(ABCG5):c.1810C>G (p.Gln604Glu) http://identifiers.org/clinvar/337043 ^@ NM_080916.2(DGUOK):c.-8T>C http://identifiers.org/clinvar/333995 ^@ NM_001608.3(ACADL):c.629G>A (p.Ser210Asn) http://identifiers.org/clinvar/334247 ^@ NM_173076.2(ABCA12):c.3976+12C>T http://identifiers.org/clinvar/333945 ^@ NM_015040.3(PIKFYVE):c.*552T>G http://identifiers.org/clinvar/334197 ^@ NM_000465.3(BARD1):c.216-14T>C http://identifiers.org/clinvar/334447 ^@ NM_002181.3(IHH):c.-14C>T http://identifiers.org/clinvar/334497 ^@ NM_015311.2(OBSL1):c.3242T>C (p.Ile1081Thr) http://identifiers.org/clinvar/334297 ^@ NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=) http://identifiers.org/clinvar/334397 ^@ NM_025216.2(WNT10A):c.420C>T (p.Gly140=) http://identifiers.org/clinvar/334697 ^@ NM_000092.4(COL4A4):c.*48G>A http://identifiers.org/clinvar/334747 ^@ NM_000092.4(COL4A4):c.-555G>A http://identifiers.org/clinvar/337193 ^@ NM_000821.6(GGCX):c.*3704G>A http://identifiers.org/clinvar/334947 ^@ NM_152383.4(DIS3L2):c.2424G>A (p.Gln808=) http://identifiers.org/clinvar/337343 ^@ NM_022912.2(REEP1):c.*3056T>C http://identifiers.org/clinvar/335047 ^@ NM_002242.4(KCNJ13):c.*256G>A http://identifiers.org/clinvar/342933 ^@ NM_000373.3(UMPS):c.1157C>T (p.Ala386Val) http://identifiers.org/clinvar/335197 ^@ NM_004544.3(NDUFA10):c.*361A>G http://identifiers.org/clinvar/342333 ^@ NM_016247.3(IMPG2):c.3633+1G>A http://identifiers.org/clinvar/343183 ^@ NM_004637.5(RAB7A):c.*1161C>T http://identifiers.org/clinvar/343383 ^@ NM_153240.4(NPHP3):c.2783A>G (p.Gln928Arg) http://identifiers.org/clinvar/343583 ^@ NM_001184.3(ATR):c.7359_7361dupTAG (p.Ser2453_Arg2454insSer) http://identifiers.org/clinvar/342783 ^@ NM_001023570.3(IQCB1):c.348A>G (p.Leu116=) http://identifiers.org/clinvar/343783 ^@ NM_000096.3(CP):c.782-14C>T http://identifiers.org/clinvar/343883 ^@ NM_004733.3(SLC33A1):c.136G>A (p.Glu46Lys) http://identifiers.org/clinvar/343033 ^@ NM_000373.3(UMPS):c.*4496G>A http://identifiers.org/clinvar/343233 ^@ NM_052985.3(IFT122):c.474A>G (p.Gln158=) http://identifiers.org/clinvar/344083 ^@ NM_000055.3(BCHE):c.*180G>A http://identifiers.org/clinvar/350752 ^@ NM_001999.3(FBN2):c.*244T>C http://identifiers.org/clinvar/350652 ^@ NM_032446.2(MEGF10):c.1602C>T (p.Tyr534=) http://identifiers.org/clinvar/350802 ^@ NM_198253.2(TERT):c.880C>T (p.His294Tyr) http://identifiers.org/clinvar/350702 ^@ NM_032446.2(MEGF10):c.*2222A>G http://identifiers.org/clinvar/350852 ^@ NM_014402.4(UQCRQ):c.*723A>G http://identifiers.org/clinvar/357728 ^@ NM_001142800.1(EYS):c.2562C>T (p.Asp854=) http://identifiers.org/clinvar/357778 ^@ NM_018368.3(LMBRD1):c.116G>A (p.Arg39Gln) http://identifiers.org/clinvar/358078 ^@ NM_181714.3(LCA5):c.*875A>G http://identifiers.org/clinvar/358128 ^@ NM_022726.3(ELOVL4):c.*1038A>G http://identifiers.org/clinvar/358178 ^@ NM_183050.3(BCKDHB):c.*345C>T http://identifiers.org/clinvar/358228 ^@ NM_006416.4(SLC35A1):c.*648T>G http://identifiers.org/clinvar/358628 ^@ NM_014491.3(FOXP2):c.*319A>G http://identifiers.org/clinvar/358678 ^@ NM_001127500.2(MET):c.-165C>G http://identifiers.org/clinvar/355739 ^@ NM_203395.2(IYD):c.*2495C>G http://identifiers.org/clinvar/358828 ^@ NM_000230.2(LEP):c.*422G>C http://identifiers.org/clinvar/358878 ^@ NM_000883.3(IMPDH1):c.769A>G (p.Thr257Ala) http://identifiers.org/clinvar/358978 ^@ NM_005989.3(AKR1D1):c.*1151A>G http://identifiers.org/clinvar/355889 ^@ NM_033071.3(SYNE1):c.10806C>T (p.Asn3602=) http://identifiers.org/clinvar/359078 ^@ NM_018238.3(AGK):c.*1024C>T http://identifiers.org/clinvar/352160 ^@ NM_005211.3(CSF1R):c.835G>A (p.Val279Met) http://identifiers.org/clinvar/359528 ^@ NM_001101426.3(ISPD):c.*2321_*2324dupTGTA http://identifiers.org/clinvar/352060 ^@ NM_000112.3(SLC26A2):c.*2330C>T http://identifiers.org/clinvar/356839 ^@ NM_014780.4(CUL7):c.2555G>A (p.Arg852Gln) http://identifiers.org/clinvar/356939 ^@ NM_006502.2(POLH):c.*1201C>T http://identifiers.org/clinvar/356989 ^@ NM_006502.2(POLH):c.*4112C>T http://identifiers.org/clinvar/360467 ^@ NM_005228.4(EGFR):c.2996G>T (p.Arg999Leu) http://identifiers.org/clinvar/357089 ^@ NM_001024630.3(RUNX2):c.-11_-9delAAG http://identifiers.org/clinvar/352999 ^@ NM_000505.3(F12):c.711C>T (p.Pro237=) http://identifiers.org/clinvar/360817 ^@ NM_005751.4(AKAP9):c.1671A>G (p.Lys557=) http://identifiers.org/clinvar/353049 ^@ NM_014244.4(ADAMTS2):c.*2301C>T http://identifiers.org/clinvar/360917 ^@ NM_000466.2(PEX1):c.3165A>G (p.Gln1055=) http://identifiers.org/clinvar/360967 ^@ NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr) http://identifiers.org/clinvar/353149 ^@ NM_014244.4(ADAMTS2):c.-13C>A http://identifiers.org/clinvar/353549 ^@ NM_002310.5(LIFR):c.*4428T>C http://identifiers.org/clinvar/353249 ^@ NM_014324.5(AMACR):c.*233T>C http://identifiers.org/clinvar/357878 ^@ NM_014989.5(RIMS1):c.*1038A>G http://identifiers.org/clinvar/361577 ^@ NM_014112.4(TRPS1):c.*2092C>T http://identifiers.org/clinvar/357978 ^@ NM_004415.3(DSP):c.*358A>T http://identifiers.org/clinvar/358028 ^@ NM_004999.3(MYO6):c.*2346A>G http://identifiers.org/clinvar/353799 ^@ NM_002203.3(ITGA2):c.*859T>C http://identifiers.org/clinvar/353449 ^@ NM_023073.3(C5orf42):c.4954C>T (p.Leu1652=) http://identifiers.org/clinvar/353499 ^@ NM_000514.3(GDNF):c.*1406G>A http://identifiers.org/clinvar/353899 ^@ NM_006308.2(HSPB3):c.282G>A (p.Leu94=) http://identifiers.org/clinvar/306272 ^@ NM_024698.5(SLC25A22):c.-93C>G http://identifiers.org/clinvar/299819 ^@ NM_021252.4(RAB18):c.394G>T (p.Asp132Tyr) http://identifiers.org/clinvar/306373 ^@ NM_012193.3(FZD4):c.*2581G>T http://identifiers.org/clinvar/300019 ^@ NM_000124.3(ERCC6):c.*900C>T http://identifiers.org/clinvar/306523 ^@ NM_016156.5(MTMR2):c.*910T>A http://identifiers.org/clinvar/300069 ^@ NM_000124.3(ERCC6):c.2337C>T (p.Phe779=) http://identifiers.org/clinvar/300169 ^@ NM_033056.3(PCDH15):c.5480G>T (p.Cys1827Phe) http://identifiers.org/clinvar/361067 ^@ NM_017890.4(VPS13B):c.5647G>A (p.Asp1883Asn) http://identifiers.org/clinvar/300219 ^@ NM_000417.2(IL2RA):c.*1650G>A http://identifiers.org/clinvar/361117 ^@ NM_017890.4(VPS13B):c.*1212_*1215dupTCTC http://identifiers.org/clinvar/306873 ^@ NM_000618.4(IGF1):c.*3388C>T http://identifiers.org/clinvar/306923 ^@ NM_018082.5(POLR3B):c.-95C>T http://identifiers.org/clinvar/364476 ^@ NM_005502.3(ABCA1):c.-141C>G http://identifiers.org/clinvar/364426 ^@ NM_005502.3(ABCA1):c.2649A>G (p.Ile883Met) http://identifiers.org/clinvar/364626 ^@ NM_000031.5(ALAD):c.*1470G>A http://identifiers.org/clinvar/364576 ^@ NM_003640.4(IKBKAP):c.1073G>A (p.Arg358Gln) http://identifiers.org/clinvar/307662 ^@ NM_004064.4(CDKN1B):c.277C>T (p.Arg93Trp) http://identifiers.org/clinvar/364826 ^@ NM_000177.4(GSN):c.2084C>T (p.Thr695Met) http://identifiers.org/clinvar/300908 ^@ NM_012330.3(KAT6B):c.*332C>T http://identifiers.org/clinvar/300958 ^@ NM_002247.3(KCNMA1):c.*15G>A http://identifiers.org/clinvar/364676 ^@ NM_015404.3(WHRN):c.*156G>A http://identifiers.org/clinvar/307862 ^@ NM_172364.4(CACNA2D4):c.1288T>C (p.Tyr430His) http://identifiers.org/clinvar/364776 ^@ NM_018249.5(CDK5RAP2):c.1294G>A (p.Gly432Arg) http://identifiers.org/clinvar/308062 ^@ NM_004985.4(KRAS):c.*4065_*4066delAA http://identifiers.org/clinvar/301158 ^@ NM_000429.2(MAT1A):c.*1206G>A http://identifiers.org/clinvar/301108 ^@ NM_001002295.1(GATA3):c.-264G>T http://identifiers.org/clinvar/308312 ^@ NM_139241.3(FGD4):c.*1133A>C http://identifiers.org/clinvar/308362 ^@ NM_139241.3(FGD4):c.*4454G>A http://identifiers.org/clinvar/301208 ^@ NM_033100.3(CDHR1):c.118G>A (p.Ala40Thr) http://identifiers.org/clinvar/308512 ^@ NM_004572.3(PKP2):c.1180C>T (p.Leu394Phe) http://identifiers.org/clinvar/301308 ^@ NM_033100.3(CDHR1):c.*2428G>A http://identifiers.org/clinvar/308662 ^@ NM_198578.3(LRRK2):c.*736G>C http://identifiers.org/clinvar/308762 ^@ NM_016123.3(IRAK4):c.*2188A>G http://identifiers.org/clinvar/308812 ^@ NM_001017535.1(VDR):c.*2973G>A http://identifiers.org/clinvar/309012 ^@ NM_003482.3(KMT2D):c.13630G>A (p.Gly4544Arg) http://identifiers.org/clinvar/309312 ^@ NM_000617.2(SLC11A2):c.1254T>C (p.Ile418=) http://identifiers.org/clinvar/309412 ^@ NM_014191.3(SCN8A):c.*3717T>G http://identifiers.org/clinvar/366216 ^@ NM_003070.4(SMARCA2):c.2991+10G>A http://identifiers.org/clinvar/366266 ^@ NM_002451.3(MTAP):c.*797C>T http://identifiers.org/clinvar/310301 ^@ NM_021150.3(GRIP1):c.2637G>A (p.Ser879=) http://identifiers.org/clinvar/366666 ^@ NM_001497.3(B4GALT1):c.-60C>T http://identifiers.org/clinvar/310451 ^@ NM_001131025.1(PEX5):c.*722G>A http://identifiers.org/clinvar/366716 ^@ NM_007126.3(VCP):c.1856T>C (p.Ile619Thr) http://identifiers.org/clinvar/310601 ^@ NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu) http://identifiers.org/clinvar/366816 ^@ NM_005476.5(GNE):c.*1204T>C http://identifiers.org/clinvar/366416 ^@ NM_000459.4(TEK):c.1236C>T (p.His412=) http://identifiers.org/clinvar/366966 ^@ NM_203447.3(DOCK8):c.3134C>T (p.Ala1045Val) http://identifiers.org/clinvar/366516 ^@ NM_001256054.2(C9orf72):c.1260-14dupT http://identifiers.org/clinvar/310806 ^@ NM_005888.3(SLC25A3):c.*211T>A http://identifiers.org/clinvar/366566 ^@ NM_005802.4(TOPORS):c.2314C>T (p.Leu772=) http://identifiers.org/clinvar/340493 ^@ NM_006031.5(PCNT):c.4584+9G>T http://identifiers.org/clinvar/322480 ^@ NM_178170.2(NEK8):c.1093G>A (p.Gly365Arg) http://identifiers.org/clinvar/313095 ^@ NM_021914.7(CFL2):c.*35C>T http://identifiers.org/clinvar/313395 ^@ NM_000161.2(GCH1):c.507G>A (p.Ala169=) http://identifiers.org/clinvar/313445 ^@ NM_005982.3(SIX1):c.*1044G>T http://identifiers.org/clinvar/313495 ^@ NM_182914.2(SYNE2):c.2477A>G (p.Asn826Ser) http://identifiers.org/clinvar/313695 ^@ NM_000347.5(SPTB):c.*248G>A http://identifiers.org/clinvar/313745 ^@ NM_000347.5(SPTB):c.2656G>T (p.Val886Leu) http://identifiers.org/clinvar/313845 ^@ NM_152443.2(RDH12):c.*54G>C http://identifiers.org/clinvar/323469 ^@ NM_138387.3(G6PC3):c.727G>A (p.Val243Met) http://identifiers.org/clinvar/323619 ^@ NM_002055.4(GFAP):c.462G>A (p.Lys154=) http://identifiers.org/clinvar/323669 ^@ NM_001123066.3(MAPT):c.*1101A>G http://identifiers.org/clinvar/323719 ^@ NM_005910.5(MAPT):c.*3377G>C http://identifiers.org/clinvar/323819 ^@ NM_004287.4(GOSR2):c.-20T>G http://identifiers.org/clinvar/323869 ^@ NM_000212.2(ITGB3):c.1902C>T (p.Cys634=) http://identifiers.org/clinvar/324176 ^@ NM_015294.4(TRIM37):c.*1025A>G http://identifiers.org/clinvar/368484 ^@ NM_000084.4(CLCN5):c.1348-14G>C http://identifiers.org/clinvar/368534 ^@ NM_000084.4(CLCN5):c.*6372T>C http://identifiers.org/clinvar/316594 ^@ NM_182758.3(WDR72):c.1569+7C>T http://identifiers.org/clinvar/316694 ^@ NM_001018004.1(TPM1):c.*119T>C http://identifiers.org/clinvar/324528 ^@ NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) http://identifiers.org/clinvar/317194 ^@ NM_003978.4(PSTPIP1):c.*122G>A http://identifiers.org/clinvar/316344 ^@ NM_000138.4(FBN1):c.*987C>T http://identifiers.org/clinvar/316394 ^@ NM_000138.4(FBN1):c.-70C>A http://identifiers.org/clinvar/372039 ^@ NM_001127511.2(APC):c.3125_3130delTAAAAC (p.Ile1042_Gln1044delinsLys) http://identifiers.org/clinvar/371989 ^@ NM_000077.4(CDKN2A):c.150+104_150+105delAG http://identifiers.org/clinvar/371939 ^@ NM_006231.3(POLE):c.6236_6254del19 (p.Asn2079Argfs) http://identifiers.org/clinvar/371839 ^@ NM_002878.3(RAD51D):c.576+1G>A http://identifiers.org/clinvar/372089 ^@ NM_058216.2(RAD51C):c.77A>T (p.Lys26Met) http://identifiers.org/clinvar/371789 ^@ NM_000455.4(STK11):c.735-6_735-2del5 http://identifiers.org/clinvar/372146 ^@ NM_001204527.1(SSR4):c.442-1G>A http://identifiers.org/clinvar/372218 ^@ NM_025083.3(EDC3):c.161T>C (p.Phe54Ser) http://identifiers.org/clinvar/372272 ^@ NM_032171.1(CEP78):c.1629-2A>G http://identifiers.org/clinvar/373784 ^@ NM_015120.4(ALMS1):c.8227T>G (p.Cys2743Gly) http://identifiers.org/clinvar/372585 ^@ NM_005633.3(SOS1):c.829C>A (p.Pro277Thr) http://identifiers.org/clinvar/372375 ^@ NM_032119.3(ADGRV1):c.11410C>T (p.Arg3804Ter) http://identifiers.org/clinvar/372482 ^@ NM_000314.6(PTEN):c.1027-1G>A http://identifiers.org/clinvar/372739 ^@ NM_017780.3(CHD7):c.7655dupC (p.Pro2553Thrfs) http://identifiers.org/clinvar/372534 ^@ NM_000359.2(TGM1):c.919C>G (p.Arg307Gly) http://identifiers.org/clinvar/372636 ^@ NM_002755.3(MAP2K1):c.371C>G (p.Pro124Arg) http://identifiers.org/clinvar/372688 ^@ NM_000548.4(TSC2):c.5234G>A (p.Arg1745His) http://identifiers.org/clinvar/372789 ^@ NM_006087.3(TUBB4A):c.535G>C (p.Val179Leu) http://identifiers.org/clinvar/372325 ^@ NM_000080.3(CHRNE):c.905C>G (p.Pro302Arg) http://identifiers.org/clinvar/372426 ^@ NM_020884.4(MYH7B):c.3566C>T (p.Ala1189Val) http://identifiers.org/clinvar/372842 ^@ NM_003491.3(NAA10):c.339G>T (p.Lys113Asn) http://identifiers.org/clinvar/372892 ^@ NM_006306.3(SMC1A):c.3342C>A (p.Asn1114Lys) http://identifiers.org/clinvar/373834 ^@ NG_005905.2:g.163032_170685dup7654 http://identifiers.org/clinvar/374311 ^@ NM_000726.4(CACNB4):c.610delC (p.Gln204Lysfs) http://identifiers.org/clinvar/374376 ^@ NM_207036.1(TCF12):c.1720A>C (p.Lys574Gln) http://identifiers.org/clinvar/381501 ^@ NM_000179.2(MSH6):c.4060C>T (p.Leu1354=) http://identifiers.org/clinvar/389274 ^@ NM_015120.4(ALMS1):c.6902T>C (p.Val2301Ala) http://identifiers.org/clinvar/380599 ^@ NM_182916.2(TRNT1):c.444G>T (p.Ala148=) http://identifiers.org/clinvar/382793 ^@ NM_015929.3(LIPT1):c.753G>A (p.Thr251=) http://identifiers.org/clinvar/383344 ^@ NM_000251.2(MSH2):c.-37C>T http://identifiers.org/clinvar/387635 ^@ NM_000179.2(MSH6):c.57T>C (p.Asp19=) http://identifiers.org/clinvar/388674 ^@ NM_001135659.2(NRXN1):c.3485-109836G>T http://identifiers.org/clinvar/378350 ^@ NM_014476.5(PDLIM3):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/386185 ^@ NM_005051.2(QARS):c.516+13C>A http://identifiers.org/clinvar/389074 ^@ NM_001148.4(ANK2):c.834T>C (p.Asn278=) http://identifiers.org/clinvar/389774 ^@ NM_182896.2(ARL13B):c.712G>A (p.Ala238Thr) http://identifiers.org/clinvar/389624 ^@ NM_015120.4(ALMS1):c.8125A>C (p.Met2709Leu) http://identifiers.org/clinvar/382543 ^@ NM_000038.5(APC):c.2952A>G (p.Glu984=) http://identifiers.org/clinvar/389224 ^@ NM_006790.2(MYOT):c.858T>C (p.Asn286=) http://identifiers.org/clinvar/383043 ^@ NM_002887.3(RARS):c.701+20G>A http://identifiers.org/clinvar/384546 ^@ NM_021072.3(HCN1):c.913A>T (p.Met305Leu) http://identifiers.org/clinvar/379998 ^@ NM_001085411.2(NADK2):c.645-11A>T http://identifiers.org/clinvar/382492 ^@ NM_006828.3(ASCC3):c.6090A>C (p.Leu2030Phe) http://identifiers.org/clinvar/380800 ^@ NM_024582.4(FAT4):c.12813G>A (p.Val4271=) http://identifiers.org/clinvar/380148 ^@ NM_001167734.1(VARS2):c.15T>C (p.Ala5=) http://identifiers.org/clinvar/382593 ^@ NM_016203.3(PRKAG2):c.1020A>G (p.Glu340=) http://identifiers.org/clinvar/387135 ^@ NM_000038.5(APC):c.775C>A (p.Arg259=) http://identifiers.org/clinvar/386985 ^@ NM_000083.2(CLCN1):c.1065-16T>C http://identifiers.org/clinvar/389824 ^@ NM_000501.3(ELN):c.1358-253G>A http://identifiers.org/clinvar/387335 ^@ NM_000445.4(PLEC):c.7566C>T (p.Phe2522=) http://identifiers.org/clinvar/389174 ^@ NM_133468.4(BMPER):c.1087G>A (p.Val363Ile) http://identifiers.org/clinvar/386785 ^@ NM_000535.6(PMS2):c.1269C>A (p.Ala423=) http://identifiers.org/clinvar/381151 ^@ NM_001999.3(FBN2):c.6138G>T (p.Gly2046=) http://identifiers.org/clinvar/382843 ^@ NM_000535.6(PMS2):c.-37C>T http://identifiers.org/clinvar/386935 ^@ NM_000443.3(ABCB4):c.1357-17A>G http://identifiers.org/clinvar/387985 ^@ NM_016203.3(PRKAG2):c.102C>G (p.Arg34=) http://identifiers.org/clinvar/387685 ^@ NM_005431.1(XRCC2):c.453G>A (p.Leu151=) http://identifiers.org/clinvar/380449 ^@ NM_016035.4(COQ4):c.59G>A (p.Arg20Gln) http://identifiers.org/clinvar/384746 ^@ NM_024531.4(SLC52A2):c.228C>T (p.Asp76=) http://identifiers.org/clinvar/382993 ^@ NM_013391.3(DMGDH):c.746-11T>C http://identifiers.org/clinvar/386235 ^@ NM_000089.3(COL1A2):c.1773C>T (p.Arg591=) http://identifiers.org/clinvar/387735 ^@ NM_000089.3(COL1A2):c.3407A>G (p.Asp1136Gly) http://identifiers.org/clinvar/382743 ^@ NM_012210.3(TRIM32):c.603C>T (p.Arg201=) http://identifiers.org/clinvar/384495 ^@ NM_003165.3(STXBP1):c.37+19C>T http://identifiers.org/clinvar/384696 ^@ NM_017617.4(NOTCH1):c.5094C>T (p.Asp1698=) http://identifiers.org/clinvar/385046 ^@ NM_017780.3(CHD7):c.6108G>A (p.Pro2036=) http://identifiers.org/clinvar/133127 ^@ NM_000540.2(RYR1):c.3557-74C>T http://identifiers.org/clinvar/133177 ^@ NM_000540.2(RYR1):c.7027+63G>A http://identifiers.org/clinvar/133227 ^@ NM_000540.2(RYR1):c.8541+34C>T http://identifiers.org/clinvar/133306 ^@ NM_022124.5(CDH23):c.9510+19_9510+25delGGCATCA http://identifiers.org/clinvar/133369 ^@ NM_024408.3(NOTCH2):c.2479+149C>G http://identifiers.org/clinvar/133419 ^@ NM_000546.5(TP53):c.672+35G>T http://identifiers.org/clinvar/133469 ^@ NM_004304.4(ALK):c.776G>A (p.Arg259His) http://identifiers.org/clinvar/133520 ^@ NM_000038.5(APC):c.6754C>G (p.Pro2252Ala) http://identifiers.org/clinvar/133620 ^@ NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) http://identifiers.org/clinvar/133670 ^@ NM_001706.4(BCL6):c.1166A>G (p.Asn389Ser) http://identifiers.org/clinvar/133720 ^@ NM_004333.4(BRAF):c.72G>C (p.Glu24Asp) http://identifiers.org/clinvar/133774 ^@ NM_001211.5(BUB1B):c.572C>T (p.Ser191Phe) http://identifiers.org/clinvar/133824 ^@ NM_001321786.1(CBLB):c.1997T>C (p.Leu666Pro) http://identifiers.org/clinvar/133874 ^@ NM_000075.3(CDK4):c.364C>T (p.Arg122Cys) http://identifiers.org/clinvar/133924 ^@ NM_004380.2(CREBBP):c.2728A>T (p.Thr910Ser) http://identifiers.org/clinvar/133974 ^@ NM_177438.2(DICER1):c.5276A>G (p.Lys1759Arg) http://identifiers.org/clinvar/134024 ^@ NM_005228.4(EGFR):c.1632T>C (p.Gly544=) http://identifiers.org/clinvar/134076 ^@ NM_001005862.2(ERBB2):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/134126 ^@ NM_000122.1(ERCC3):c.350A>G (p.Lys117Arg) http://identifiers.org/clinvar/135218 ^@ NM_014159.6(SETD2):c.784A>C (p.Ser262Arg) http://identifiers.org/clinvar/135269 ^@ NM_005631.4(SMO):c.808G>A (p.Val270Ile) http://identifiers.org/clinvar/135319 ^@ NM_001127208.2(TET2):c.1819G>A (p.Gly607Arg) http://identifiers.org/clinvar/135369 ^@ NM_000368.4(TSC1):c.3169G>A (p.Gly1057Ser) http://identifiers.org/clinvar/135420 ^@ NM_000553.4(WRN):c.1882C>G (p.Leu628Val) http://identifiers.org/clinvar/136157 ^@ NM_058216.2(RAD51C):c.195A>G (p.Arg65=) http://identifiers.org/clinvar/136269 ^@ NM_174917.4(ACSF3):c.5T>C (p.Leu2Pro) http://identifiers.org/clinvar/187161 ^@ NM_002878.3(RAD51D):c.878C>T (p.Ala293Val) http://identifiers.org/clinvar/185270 ^@ NM_002878.3(RAD51D):c.843C>T (p.Ile281=) http://identifiers.org/clinvar/187111 ^@ NM_007294.3(BRCA1):c.5571_5579delGATCCCCCA (p.Gln1857_Pro1859del) http://identifiers.org/clinvar/186911 ^@ NM_007294.3(BRCA1):c.5280C>A (p.Ile1760=) http://identifiers.org/clinvar/187061 ^@ NM_058216.2(RAD51C):c.1109G>A (p.Arg370Gln) http://identifiers.org/clinvar/187311 ^@ NM_032043.2(BRIP1):c.2835A>G (p.Glu945=) http://identifiers.org/clinvar/186309 ^@ NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) http://identifiers.org/clinvar/186661 ^@ NM_032043.2(BRIP1):c.518G>A (p.Arg173His) http://identifiers.org/clinvar/186611 ^@ NM_000546.5(TP53):c.1135C>T (p.Arg379Cys) http://identifiers.org/clinvar/186509 ^@ NM_000546.5(TP53):c.852A>C (p.Thr284=) http://identifiers.org/clinvar/185120 ^@ NM_000546.5(TP53):c.215C>A (p.Pro72His) http://identifiers.org/clinvar/184420 ^@ NM_000455.4(STK11):c.1290C>T (p.Cys430=) http://identifiers.org/clinvar/185370 ^@ NM_007194.3(CHEK2):c.1011C>A (p.Tyr337Ter) http://identifiers.org/clinvar/190358 ^@ NM_002055.4(GFAP):c.1090G>A (p.Ala364Thr) http://identifiers.org/clinvar/228481 ^@ NM_022124.5(CDH23):c.3847G>A (p.Val1283Met) http://identifiers.org/clinvar/228231 ^@ NM_014000.2(VCL):c.874+9C>G http://identifiers.org/clinvar/227780 ^@ NM_001277269.1(OTOG):c.4283G>A (p.Arg1428Gln) http://identifiers.org/clinvar/227830 ^@ NM_012226.4(P2RX2):c.1094G>A (p.Arg365Gln) http://identifiers.org/clinvar/226748 ^@ NM_002471.3(MYH6):c.4359+5A>G http://identifiers.org/clinvar/227250 ^@ NM_006383.3(CIB2):c.141G>A (p.Arg47=) http://identifiers.org/clinvar/227981 ^@ NM_001199107.1(TBC1D24):c.213C>T (p.Ala71=) http://identifiers.org/clinvar/227630 ^@ NM_016239.3(MYO15A):c.10457C>T (p.Ala3486Val) http://identifiers.org/clinvar/228381 ^@ NM_001042492.2(NF1):c.5305C>T (p.Arg1769Ter) http://identifiers.org/clinvar/227580 ^@ NM_001145809.1(MYH14):c.5573G>A (p.Arg1858His) http://identifiers.org/clinvar/227350 ^@ NM_207034.2(EDN3):c.588+48C>T http://identifiers.org/clinvar/228031 ^@ NM_001039141.2(TRIOBP):c.4548T>C (p.Pro1516=) http://identifiers.org/clinvar/228331 ^@ NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del http://identifiers.org/clinvar/227881 ^@ NM_002764.3(PRPS1):c.864+10A>G http://identifiers.org/clinvar/227450 ^@ NM_002230.2(JUP):c.459C>T (p.Asp153=) http://identifiers.org/clinvar/227680 ^@ NM_000260.3(MYO7A):c.285+14C>G http://identifiers.org/clinvar/228281 ^@ NM_000260.3(MYO7A):c.314T>G (p.Val105Gly) http://identifiers.org/clinvar/228431 ^@ NM_001614.3(ACTG1):c.1036C>G (p.Leu346Val) http://identifiers.org/clinvar/229370 ^@ NM_144991.2(TSPEAR):c.1079A>G (p.Lys360Arg) http://identifiers.org/clinvar/230572 ^@ NM_001128425.1(MUTYH):c.504G>A (p.Glu168=) http://identifiers.org/clinvar/231322 ^@ NM_001128425.1(MUTYH):c.7C>G (p.Pro3Ala) http://identifiers.org/clinvar/230172 ^@ NM_000465.3(BARD1):c.1639G>T (p.Glu547Ter) http://identifiers.org/clinvar/231072 ^@ NM_000251.2(MSH2):c.1782dupA (p.Leu595Thrfs) http://identifiers.org/clinvar/229972 ^@ NM_000251.2(MSH2):c.2187G>A (p.Met729Ile) http://identifiers.org/clinvar/230022 ^@ NM_000251.2(MSH2):c.2804G>A (p.Ter935=) http://identifiers.org/clinvar/230422 ^@ NM_000179.2(MSH6):c.87C>G (p.Arg29=) http://identifiers.org/clinvar/232912 ^@ NM_000179.2(MSH6):c.2140T>C (p.Ser714Pro) http://identifiers.org/clinvar/233162 ^@ NM_000179.2(MSH6):c.2240T>G (p.Leu747Arg) http://identifiers.org/clinvar/230072 ^@ NM_000179.2(MSH6):c.2687A>T (p.Lys896Ile) http://identifiers.org/clinvar/232011 ^@ NM_000179.2(MSH6):c.2751C>T (p.Asp917=) http://identifiers.org/clinvar/233712 ^@ NM_000249.3(MLH1):c.1656delC (p.Thr553Profs) http://identifiers.org/clinvar/230672 ^@ NM_000038.5(APC):c.1829A>G (p.Asp610Gly) http://identifiers.org/clinvar/263697 ^@ NM_005902.3(SMAD3):c.764T>G (p.Met255Arg) http://identifiers.org/clinvar/263394 ^@ NM_002474.2(MYH11):c.2649G>A (p.Ser883=) http://identifiers.org/clinvar/263847 ^@ NM_001040113.1(MYH11):c.1701C>T (p.His567=) http://identifiers.org/clinvar/263444 ^@ NM_080647.1(TBX1):c.933A>G (p.Ala311=) http://identifiers.org/clinvar/263897 ^@ NM_001456.3(FLNA):c.76G>C (p.Ala26Pro) http://identifiers.org/clinvar/263647 ^@ NM_004006.2(DMD):c.7281A>G (p.Leu2427=) http://identifiers.org/clinvar/263997 ^@ NM_003239.2:c.698A>T http://identifiers.org/clinvar/264718 ^@ NM_001242896.1(DEPDC5):c.484-1G>A http://identifiers.org/clinvar/264973 ^@ NM_000059.3(BRCA2):c.317-1908_317-1907del http://identifiers.org/clinvar/265179 ^@ NM_000404.3(GLB1):c.464T>G (p.Leu155Arg) http://identifiers.org/clinvar/265078 ^@ NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg) http://identifiers.org/clinvar/265128 ^@ NM_000127.2(EXT1):c.1056+1G>T http://identifiers.org/clinvar/265483 ^@ NM_152419.2(HGSNAT):c.1411G>A (p.Glu471Lys) http://identifiers.org/clinvar/265634 ^@ NM_000051.3(ATM):c.387delA (p.Asp130Ilefs) http://identifiers.org/clinvar/265533 ^@ NM_000051.3(ATM):c.3852delA (p.Asp1285Thrfs) http://identifiers.org/clinvar/265383 ^@ NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) http://identifiers.org/clinvar/265283 ^@ NM_006009.3(TUBA1A):c.790C>G (p.Arg264Gly) http://identifiers.org/clinvar/265584 ^@ NM_024675.3(PALB2):c.3041_3042delTA (p.Leu1014Hisfs) http://identifiers.org/clinvar/265684 ^@ NM_024675.3(PALB2):c.2514+1G>C http://identifiers.org/clinvar/265230 ^@ NM_002386.3(MC1R):c.456C>A (p.Tyr152Ter) http://identifiers.org/clinvar/265433 ^@ NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) http://identifiers.org/clinvar/265333 ^@ NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) http://identifiers.org/clinvar/265025 ^@ NM_000022.3(ADA):c.478+1G>A http://identifiers.org/clinvar/265769 ^@ NM_005918.3(MDH2):c.398C>T (p.Pro133Leu) http://identifiers.org/clinvar/265923 ^@ NM_174936.3(PCSK9):c.400-11G>A http://identifiers.org/clinvar/265873 ^@ NM_000384.2(APOB):c.82+131A>G http://identifiers.org/clinvar/265978 ^@ NM_003611.2(OFD1):c.(?_-359)_(*253_?)del http://identifiers.org/clinvar/266029 ^@ NM_003870.3(IQGAP1):c.3493A>G (p.Lys1165Glu) http://identifiers.org/clinvar/266105 ^@ NM_025132.3(WDR19):c.1434C>G (p.Ile478Met) http://identifiers.org/clinvar/266555 ^@ NM_007294.3(BRCA1):c.5493_5494insTT (p.Val1832Leufs) http://identifiers.org/clinvar/266505 ^@ NM_007294.3(BRCA1):c.4921delG (p.Ala1641Leufs) http://identifiers.org/clinvar/266405 ^@ NM_007294.3(BRCA1):c.3765delC (p.Asn1255Lysfs) http://identifiers.org/clinvar/266355 ^@ NM_007294.3(BRCA1):c.3331_3335delCAAGA (p.Gln1111Ilefs) http://identifiers.org/clinvar/266305 ^@ NM_007294.3(BRCA1):c.2814delA (p.Val939Leufs) http://identifiers.org/clinvar/266205 ^@ NM_007294.3(BRCA1):c.1949_1952delTAAA (p.Ile650Argfs) http://identifiers.org/clinvar/266455 ^@ NM_007294.3(BRCA1):c.418dupA (p.Ser140Lysfs) http://identifiers.org/clinvar/266255 ^@ NM_007294.3(BRCA1):c.237delT (p.Phe79Leufs) http://identifiers.org/clinvar/280768 ^@ NM_006912.5(RIT1):c.575C>T (p.Ala192Val) http://identifiers.org/clinvar/280518 ^@ NM_018136.4(ASPM):c.3082+1G>C http://identifiers.org/clinvar/280468 ^@ NM_015100.3(POGZ):c.2350C>T (p.Arg784Ter) http://identifiers.org/clinvar/290883 ^@ NM_001849.3(COL6A2):c.3058T>C (p.Ter1020Gln) http://identifiers.org/clinvar/290934 ^@ NM_182961.3(SYNE1):c.18114G>A (p.Ala6038=) http://identifiers.org/clinvar/291652 ^@ NM_015074.3(KIF1B):c.*3911A>G http://identifiers.org/clinvar/291702 ^@ NM_013296.4(GPSM2):c.882A>G (p.Leu294=) http://identifiers.org/clinvar/291802 ^@ NM_006610.3(MASP2):c.467G>A (p.Cys156Tyr) http://identifiers.org/clinvar/291902 ^@ NM_013319.2(UBIAD1):c.*1564C>T http://identifiers.org/clinvar/291852 ^@ NM_003051.3(SLC16A1):c.1430T>C (p.Val477Ala) http://identifiers.org/clinvar/291752 ^@ NM_007375.3(TARDBP):c.*1084A>T http://identifiers.org/clinvar/292152 ^@ NM_005957.4(MTHFR):c.*4679C>T http://identifiers.org/clinvar/292002 ^@ NM_138959.2(VANGL1):c.-24C>T http://identifiers.org/clinvar/291952 ^@ NM_002524.4(NRAS):c.*2677A>T http://identifiers.org/clinvar/292052 ^@ NM_138959.2(VANGL1):c.*2351T>G http://identifiers.org/clinvar/292302 ^@ NM_006623.3(PHGDH):c.-11C>T http://identifiers.org/clinvar/292102 ^@ NM_138959.2(VANGL1):c.*6026G>A http://identifiers.org/clinvar/292752 ^@ NM_001111.4(ADAR):c.*317T>G http://identifiers.org/clinvar/292602 ^@ NM_000449.3(RFX5):c.*694delG http://identifiers.org/clinvar/292202 ^@ NM_005957.4(MTHFR):c.*1860G>A http://identifiers.org/clinvar/292702 ^@ NM_006118.3(HAX1):c.-52G>T http://identifiers.org/clinvar/292252 ^@ NM_000302.3(PLOD1):c.-58G>A http://identifiers.org/clinvar/292852 ^@ NM_022367.3(SEMA4A):c.1337C>T (p.Ala446Val) http://identifiers.org/clinvar/292402 ^@ NM_014874.3(MFN2):c.*1276G>A http://identifiers.org/clinvar/292352 ^@ NM_000302.3(PLOD1):c.*61T>C http://identifiers.org/clinvar/292902 ^@ NM_001012331.1(NTRK1):c.*96G>A http://identifiers.org/clinvar/292452 ^@ NM_005266.6(GJA5):c.334G>C (p.Glu112Gln) http://identifiers.org/clinvar/292502 ^@ NM_004698.2(PRPF3):c.1526+14G>T http://identifiers.org/clinvar/292552 ^@ NM_019032.5(ADAMTSL4):c.2392C>T (p.Arg798Trp) http://identifiers.org/clinvar/292652 ^@ NM_152263.3(TPM3):c.*3756C>A http://identifiers.org/clinvar/293741 ^@ NM_000639.2(FASLG):c.*54A>T http://identifiers.org/clinvar/292802 ^@ NM_000298.5(PKLR):c.*267C>T http://identifiers.org/clinvar/293891 ^@ NM_002065.6(GLUL):c.*2307C>T http://identifiers.org/clinvar/293841 ^@ NM_000488.3(SERPINC1):c.-88G>A http://identifiers.org/clinvar/294141 ^@ NM_031935.2(HMCN1):c.4269A>G (p.Pro1423=) http://identifiers.org/clinvar/294241 ^@ NM_031935.2(HMCN1):c.12074G>A (p.Gly4025Asp) http://identifiers.org/clinvar/294341 ^@ NM_003748.3(ALDH4A1):c.*925C>T http://identifiers.org/clinvar/294441 ^@ NM_024529.4(CDC73):c.*1858C>G http://identifiers.org/clinvar/294541 ^@ NM_030787.3(CFHR5):c.485_486dupAA (p.Glu163Lysfs) http://identifiers.org/clinvar/294591 ^@ NM_018136.4(ASPM):c.*81C>T http://identifiers.org/clinvar/293791 ^@ NM_022089.3(ATP13A2):c.1420C>G (p.Pro474Ala) http://identifiers.org/clinvar/294791 ^@ NM_000069.2(CACNA1S):c.-140C>T http://identifiers.org/clinvar/294741 ^@ NM_000069.2(CACNA1S):c.2601C>T (p.Tyr867=) http://identifiers.org/clinvar/293691 ^@ NM_006894.5(FMO3):c.706G>A (p.Val236Ile) http://identifiers.org/clinvar/294841 ^@ NM_001005337.2(PKP1):c.*327C>T http://identifiers.org/clinvar/294891 ^@ NM_001005337.2(PKP1):c.*2858C>A http://identifiers.org/clinvar/343333 ^@ NM_014382.3(ATP2C1):c.2694T>C (p.Val898=) http://identifiers.org/clinvar/344283 ^@ NM_181426.1(CCDC39):c.-80T>C http://identifiers.org/clinvar/343483 ^@ NM_020191.2(MRPS22):c.90G>A (p.Gln30=) http://identifiers.org/clinvar/335986 ^@ NM_005633.3(SOS1):c.*2048_*2050dupAAC http://identifiers.org/clinvar/336086 ^@ NM_022437.2(ABCG8):c.1675G>T (p.Ala559Ser) http://identifiers.org/clinvar/343733 ^@ NM_032383.4(HPS3):c.*170C>T http://identifiers.org/clinvar/336136 ^@ NM_133259.3(LRPPRC):c.*556A>T http://identifiers.org/clinvar/336186 ^@ NM_000341.3(SLC3A1):c.184G>A (p.Val62Ile) http://identifiers.org/clinvar/344772 ^@ NM_015141.3(GPD1L):c.*2386T>C http://identifiers.org/clinvar/344822 ^@ NM_006371.4(CRTAP):c.*539C>G http://identifiers.org/clinvar/344922 ^@ NM_001106.3(ACVR2B):c.*48delA http://identifiers.org/clinvar/345022 ^@ NM_001106.3(ACVR2B):c.*7619C>T http://identifiers.org/clinvar/345272 ^@ NM_016006.4(ABHD5):c.*3186C>T http://identifiers.org/clinvar/345372 ^@ NM_020208.3(SLC6A20):c.*1422A>G http://identifiers.org/clinvar/345422 ^@ NM_020208.3(SLC6A20):c.354+7C>T http://identifiers.org/clinvar/337093 ^@ NM_004082.4(DCTN1):c.810C>G (p.Ala270=) http://identifiers.org/clinvar/337143 ^@ NM_013247.4(HTRA2):c.*443T>A http://identifiers.org/clinvar/345672 ^@ NM_015175.2(NBEAL2):c.5301+11C>T http://identifiers.org/clinvar/344872 ^@ NM_006371.4(CRTAP):c.*3720C>A http://identifiers.org/clinvar/345772 ^@ NM_033629.4(TREX1):c.9G>A (p.Ser3=) http://identifiers.org/clinvar/337243 ^@ NM_000821.6(GGCX):c.*563_*566dupTAAA http://identifiers.org/clinvar/345972 ^@ NM_002292.3(LAMB2):c.5109C>T (p.Arg1703=) http://identifiers.org/clinvar/345122 ^@ NM_198056.2(SCN5A):c.2815C>T (p.Leu939Phe) http://identifiers.org/clinvar/337293 ^@ NM_198843.2(SFTPB):c.*978G>A http://identifiers.org/clinvar/346072 ^@ NM_144499.2(GNAT1):c.*1954C>T http://identifiers.org/clinvar/345322 ^@ NM_182760.3(SUMF1):c.434A>G (p.Tyr145Cys) http://identifiers.org/clinvar/345472 ^@ NM_024513.3(FYCO1):c.*1235C>A http://identifiers.org/clinvar/345522 ^@ NM_024513.3(FYCO1):c.1549T>A (p.Phe517Ile) http://identifiers.org/clinvar/345722 ^@ NM_002222.5(ITPR1):c.3123C>T (p.His1041=) http://identifiers.org/clinvar/345922 ^@ NM_002222.5(ITPR1):c.*1198C>T http://identifiers.org/clinvar/345872 ^@ NM_000094.3(COL7A1):c.1613G>A (p.Arg538His) http://identifiers.org/clinvar/342833 ^@ NM_053025.3(MYLK):c.*1210T>C http://identifiers.org/clinvar/342883 ^@ NM_053025.3(MYLK):c.3024G>A (p.Val1008=) http://identifiers.org/clinvar/343083 ^@ NM_025265.3(TSEN2):c.*56A>T http://identifiers.org/clinvar/342983 ^@ NM_000373.3(UMPS):c.*2712_*2713delTG http://identifiers.org/clinvar/347711 ^@ NM_000901.4(NR3C2):c.*442_*444delTTT http://identifiers.org/clinvar/343133 ^@ NM_032638.4(GATA2):c.*73C>T http://identifiers.org/clinvar/343283 ^@ NM_000539.3(RHO):c.969C>T (p.Cys323=) http://identifiers.org/clinvar/343433 ^@ NM_001063.3(TF):c.521C>T (p.Ser174Leu) http://identifiers.org/clinvar/346622 ^@ NM_032682.5(FOXP1):c.*827G>A http://identifiers.org/clinvar/348161 ^@ NM_000320.2(QDPR):c.157A>G (p.Ile53Val) http://identifiers.org/clinvar/343533 ^@ NM_024334.2(TMEM43):c.*1161C>A http://identifiers.org/clinvar/348311 ^@ NM_207352.3(CYP4V2):c.1289C>T (p.Pro430Leu) http://identifiers.org/clinvar/348411 ^@ NM_133330.2(NSD2):c.-145C>T http://identifiers.org/clinvar/343633 ^@ NM_000935.2(PLOD2):c.*1211C>T http://identifiers.org/clinvar/348461 ^@ NM_133330.2(NSD2):c.*620T>A http://identifiers.org/clinvar/353949 ^@ NM_001104631.1(PDE4D):c.*2166delT http://identifiers.org/clinvar/353699 ^@ NM_000163.4(GHR):c.*693G>A http://identifiers.org/clinvar/358278 ^@ NM_014165.3(NDUFAF4):c.-40C>T http://identifiers.org/clinvar/354149 ^@ NM_003719.3(PDE8B):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/358428 ^@ NM_005045.3(RELN):c.-24_-1dup24 http://identifiers.org/clinvar/354199 ^@ NM_003719.3(PDE8B):c.*863_*864delAA http://identifiers.org/clinvar/358478 ^@ NM_006348.3(COG5):c.160G>C (p.Ala54Pro) http://identifiers.org/clinvar/358528 ^@ NM_000441.1(SLC26A4):c.*2147G>A http://identifiers.org/clinvar/354099 ^@ NM_001038603.2(MARVELD2):c.*210A>G http://identifiers.org/clinvar/358778 ^@ NM_006193.2(PAX4):c.*521C>T http://identifiers.org/clinvar/359028 ^@ NM_020632.2(ATP6V0A4):c.588C>T (p.Asn196=) http://identifiers.org/clinvar/355189 ^@ NM_006073.3(TRDN):c.*2003T>G http://identifiers.org/clinvar/355589 ^@ NM_003630.2(PEX3):c.*895G>A http://identifiers.org/clinvar/355639 ^@ NM_003764.3(STX11):c.*2786T>C http://identifiers.org/clinvar/364526 ^@ NM_001079802.1(FKTN):c.*5161C>T http://identifiers.org/clinvar/355689 ^@ NM_203395.2(IYD):c.*337C>T http://identifiers.org/clinvar/360567 ^@ NM_000048.3(ASL):c.1026G>C (p.Val342=) http://identifiers.org/clinvar/355789 ^@ NM_203395.2(IYD):c.*6119A>G http://identifiers.org/clinvar/360617 ^@ NM_153033.4(KCTD7):c.*2223_*2226dupTGCA http://identifiers.org/clinvar/356139 ^@ NM_001080.3(ALDH5A1):c.1108G>A (p.Val370Ile) http://identifiers.org/clinvar/355839 ^@ NM_033071.3(SYNE1):c.19485G>T (p.Met6495Ile) http://identifiers.org/clinvar/360667 ^@ NM_000501.3(ELN):c.*383T>G http://identifiers.org/clinvar/356189 ^@ NM_001080.3(ALDH5A1):c.*2985C>T http://identifiers.org/clinvar/355939 ^@ NM_033071.3(SYNE1):c.1674G>C (p.Lys558Asn) http://identifiers.org/clinvar/360717 ^@ NM_000941.2(POR):c.1764C>T (p.Asp588=) http://identifiers.org/clinvar/356289 ^@ NM_001710.5(CFB):c.1524C>A (p.His508Gln) http://identifiers.org/clinvar/356039 ^@ NM_003730.4(RNASET2):c.16C>T (p.Leu6=) http://identifiers.org/clinvar/360767 ^@ NM_001001547.2(CD36):c.1133G>T (p.Gly378Val) http://identifiers.org/clinvar/356389 ^@ NM_080680.2(COL11A2):c.3725C>T (p.Ser1242Leu) http://identifiers.org/clinvar/356439 ^@ NM_021922.2(FANCE):c.-56C>T http://identifiers.org/clinvar/361017 ^@ NM_014251.2(SLC25A13):c.1311+3A>G http://identifiers.org/clinvar/356689 ^@ NM_000409.4(GUCA1A):c.-242C>T http://identifiers.org/clinvar/361167 ^@ NM_015713.4(RRM2B):c.*817G>A http://identifiers.org/clinvar/356739 ^@ NM_002098.5(GUCA1B):c.-54A>C http://identifiers.org/clinvar/361367 ^@ NM_178857.5(RP1L1):c.1791C>T (p.Gly597=) http://identifiers.org/clinvar/361520 ^@ NM_014112.4(TRPS1):c.*4754_*4761dupTTTTTTTT http://identifiers.org/clinvar/365765 ^@ NM_000093.4(COL5A1):c.*894T>C http://identifiers.org/clinvar/361727 ^@ NM_014846.3(WASHC5):c.1151-8G>A http://identifiers.org/clinvar/357039 ^@ NM_020745.3(AARS2):c.*982G>A http://identifiers.org/clinvar/366616 ^@ NM_001497.3(B4GALT1):c.*2175G>T http://identifiers.org/clinvar/367116 ^@ NM_004972.3(JAK2):c.-138C>T http://identifiers.org/clinvar/367166 ^@ NM_000170.2(GLDC):c.*257G>A http://identifiers.org/clinvar/367216 ^@ NM_004817.3(TJP2):c.773A>T (p.Asp258Val) http://identifiers.org/clinvar/366766 ^@ NM_003289.3(TPM2):c.*25A>C http://identifiers.org/clinvar/311456 ^@ NM_002010.2(FGF9):c.*1360C>T http://identifiers.org/clinvar/367395 ^@ NM_033305.2(VPS13A):c.5884C>T (p.Arg1962Cys) http://identifiers.org/clinvar/367495 ^@ NM_004560.3(ROR2):c.2649G>A (p.Met883Ile) http://identifiers.org/clinvar/367545 ^@ NM_006415.3(SPTLC1):c.1221A>G (p.Gln407=) http://identifiers.org/clinvar/367016 ^@ NM_001042413.1(GLIS3):c.-524C>T http://identifiers.org/clinvar/298519 ^@ NM_021830.4(TWNK):c.*763T>C http://identifiers.org/clinvar/312595 ^@ NM_005708.4(GPC6):c.*2852C>G http://identifiers.org/clinvar/304357 ^@ NM_000280.4(PAX6):c.711G>A (p.Val237=) http://identifiers.org/clinvar/299019 ^@ NM_000141.4(FGFR2):c.-236G>A http://identifiers.org/clinvar/313145 ^@ NM_001079668.2(NKX2-1):c.435C>G (p.Gly145=) http://identifiers.org/clinvar/313295 ^@ NM_015915.4(ATL1):c.523-13T>C http://identifiers.org/clinvar/299369 ^@ NM_001081.3(CUBN):c.10077G>C (p.Ser3359=) http://identifiers.org/clinvar/313645 ^@ NM_182914.2(SYNE2):c.19034G>A (p.Arg6345Gln) http://identifiers.org/clinvar/299419 ^@ NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) http://identifiers.org/clinvar/299469 ^@ NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) http://identifiers.org/clinvar/313895 ^@ NM_015346.3(ZFYVE26):c.4401C>T (p.Pro1467=) http://identifiers.org/clinvar/299169 ^@ NM_000274.3(OAT):c.911T>A (p.Val304Glu) http://identifiers.org/clinvar/299669 ^@ NM_017433.4(MYO3A):c.3337G>A (p.Val1113Ile) http://identifiers.org/clinvar/305359 ^@ NM_032193.3(RNASEH2C):c.468+8G>A http://identifiers.org/clinvar/305409 ^@ NM_001143985.1(BANF1):c.*128C>A http://identifiers.org/clinvar/300119 ^@ NM_000242.2(MBL2):c.*1857A>G http://identifiers.org/clinvar/299569 ^@ NM_201590.2(CACNB2):c.*10_*11delGT http://identifiers.org/clinvar/305759 ^@ NM_007103.3(NDUFV1):c.*14C>T http://identifiers.org/clinvar/305959 ^@ NM_001360.2(DHCR7):c.241C>T (p.Arg81Trp) http://identifiers.org/clinvar/306009 ^@ NM_001145308.4(LRTOMT):c.*601A>C http://identifiers.org/clinvar/299869 ^@ NM_021252.4(RAB18):c.*3293delC http://identifiers.org/clinvar/306172 ^@ NM_000260.3(MYO7A):c.2107G>A (p.Gly703Arg) http://identifiers.org/clinvar/299919 ^@ NM_020975.4(RET):c.*763C>T http://identifiers.org/clinvar/299969 ^@ NM_002900.2(RBP3):c.2125G>T (p.Val709Leu) http://identifiers.org/clinvar/306323 ^@ NM_032273.3(TMEM126A):c.487A>G (p.Ile163Val) http://identifiers.org/clinvar/300269 ^@ NM_000399.4(EGR2):c.*646C>T http://identifiers.org/clinvar/311056 ^@ NM_001845.5(COL4A1):c.2126C>T (p.Pro709Leu) http://identifiers.org/clinvar/311106 ^@ NM_001846.3(COL4A2):c.574G>T (p.Val192Phe) http://identifiers.org/clinvar/329617 ^@ NM_025136.3(OPA3):c.*3874G>A http://identifiers.org/clinvar/311506 ^@ NM_014363.5(SACS):c.11409G>T (p.Trp3803Cys) http://identifiers.org/clinvar/318236 ^@ NM_004970.2(IGFALS):c.1566G>A (p.Thr522=) http://identifiers.org/clinvar/329867 ^@ NM_017636.3(TRPM4):c.2779-5C>T http://identifiers.org/clinvar/318336 ^@ NM_000548.4(TSC2):c.5267A>G (p.Glu1756Gly) http://identifiers.org/clinvar/330117 ^@ NM_015629.3(PRPF31):c.*197G>C http://identifiers.org/clinvar/318436 ^@ NM_000336.2(SCNN1B):c.1271-10T>C http://identifiers.org/clinvar/330167 ^@ NM_206828.3(NLRP7):c.1491C>T (p.Ile497=) http://identifiers.org/clinvar/310351 ^@ NM_000239.2(LYZ):c.*655G>T http://identifiers.org/clinvar/330217 ^@ NM_001256714.1(DNAAF3):c.735C>T (p.Gly245=) http://identifiers.org/clinvar/330267 ^@ NM_006087.3(TUBB4A):c.189G>A (p.Ala63=) http://identifiers.org/clinvar/330367 ^@ NM_000208.3(INSR):c.*3402_*3404delCAA http://identifiers.org/clinvar/310501 ^@ NM_024685.3(BBS10):c.-48C>G http://identifiers.org/clinvar/330417 ^@ NM_000208.3(INSR):c.*853A>C http://identifiers.org/clinvar/318786 ^@ NM_173201.3(ATP2A1):c.2343G>A (p.Leu781=) http://identifiers.org/clinvar/318836 ^@ NM_000034.3(ALDOA):c.945C>T (p.Gly315=) http://identifiers.org/clinvar/330517 ^@ NM_006702.4(PNPLA6):c.597+6T>G http://identifiers.org/clinvar/306673 ^@ NM_018979.3(WNK1):c.*463C>A http://identifiers.org/clinvar/310656 ^@ NM_001920.4(DCN):c.803C>T (p.Thr268Met) http://identifiers.org/clinvar/310706 ^@ NM_002108.3(HAL):c.1453T>C (p.Phe485Leu) http://identifiers.org/clinvar/319136 ^@ NM_032444.2(SLX4):c.*374C>T http://identifiers.org/clinvar/319186 ^@ NM_032444.2(SLX4):c.489T>G (p.Gly163=) http://identifiers.org/clinvar/310856 ^@ NM_000282.3(PCCA):c.*159T>G http://identifiers.org/clinvar/310906 ^@ NM_000123.3(ERCC5):c.-200G>C http://identifiers.org/clinvar/312495 ^@ NM_052910.2(SLITRK1):c.*67G>A http://identifiers.org/clinvar/319587 ^@ NM_002968.2(SALL1):c.*563delT http://identifiers.org/clinvar/311156 ^@ NM_001846.3(COL4A2):c.3234A>C (p.Ala1078=) http://identifiers.org/clinvar/311256 ^@ NM_000131.4(F7):c.*1054C>A http://identifiers.org/clinvar/311306 ^@ NM_021954.3(GJA3):c.*1449C>T http://identifiers.org/clinvar/312895 ^@ NM_000257.3(MYH7):c.4659C>T (p.His1553=) http://identifiers.org/clinvar/312995 ^@ NM_000359.2(TGM1):c.168G>A (p.Ala56=) http://identifiers.org/clinvar/313345 ^@ NM_001202.5(BMP4):c.*149G>A http://identifiers.org/clinvar/320926 ^@ NM_001127464.2(ZNF469):c.4448_4450delTGC (p.Leu1483del) http://identifiers.org/clinvar/320976 ^@ NM_001127464.2(ZNF469):c.7636C>T (p.His2546Tyr) http://identifiers.org/clinvar/321026 ^@ NM_001127464.2(ZNF469):c.11341G>A (p.Glu3781Lys) http://identifiers.org/clinvar/321276 ^@ NM_003119.3(SPG7):c.306C>T (p.Asn102=) http://identifiers.org/clinvar/328328 ^@ NM_000159.3(GCDH):c.-35+9G>A http://identifiers.org/clinvar/368334 ^@ NM_003334.3(UBA1):c.1242C>T (p.Ser414=) http://identifiers.org/clinvar/329267 ^@ NM_181882.2(PRX):c.2292C>G (p.Pro764=) http://identifiers.org/clinvar/368784 ^@ NM_024921.3(POF1B):c.1374C>T (p.Asn458=) http://identifiers.org/clinvar/329717 ^@ NM_000554.5(CRX):c.*682C>T http://identifiers.org/clinvar/329767 ^@ NM_000554.5(CRX):c.*2602C>T http://identifiers.org/clinvar/330017 ^@ NM_144687.3(NLRP12):c.2575C>T (p.Arg859Trp) http://identifiers.org/clinvar/330467 ^@ NM_000208.3(INSR):c.1932A>C (p.Pro644=) http://identifiers.org/clinvar/330567 ^@ NM_030957.3(ADAMTS10):c.*456delG http://identifiers.org/clinvar/329367 ^@ NM_000709.3(BCKDHA):c.1191C>T (p.Ala397=) http://identifiers.org/clinvar/329417 ^@ NM_152296.4(ATP1A3):c.1500C>T (p.Ala500=) http://identifiers.org/clinvar/329467 ^@ NM_212550.4(BLOC1S3):c.-57A>T http://identifiers.org/clinvar/329567 ^@ NM_025136.3(OPA3):c.*6289A>G http://identifiers.org/clinvar/329667 ^@ NM_025136.3(OPA3):c.*821A>T http://identifiers.org/clinvar/329817 ^@ NM_002103.4(GYS1):c.1077G>A (p.Glu359=) http://identifiers.org/clinvar/329917 ^@ NM_024729.3(MYH14):c.2003G>A (p.Arg668Gln) http://identifiers.org/clinvar/329967 ^@ NM_024729.3(MYH14):c.*474A>G http://identifiers.org/clinvar/340293 ^@ NM_130445.3(COL18A1):c.*638G>A http://identifiers.org/clinvar/340393 ^@ NM_001849.3(COL6A2):c.*61G>A http://identifiers.org/clinvar/340544 ^@ NM_006031.5(PCNT):c.9291T>C (p.Ala3097=) http://identifiers.org/clinvar/340844 ^@ NM_004782.3(SNAP29):c.*519_*520dupAC http://identifiers.org/clinvar/340894 ^@ NM_004782.3(SNAP29):c.*2879C>T http://identifiers.org/clinvar/341144 ^@ NM_000268.3(NF2):c.*2369T>C http://identifiers.org/clinvar/341344 ^@ NM_000362.4(TIMP3):c.289G>A (p.Val97Ile) http://identifiers.org/clinvar/341394 ^@ NM_000362.4(TIMP3):c.*2686C>T http://identifiers.org/clinvar/380649 ^@ NM_000093.4(COL5A1):c.12T>C (p.His4=) http://identifiers.org/clinvar/388774 ^@ NM_007327.3(GRIN1):c.*9G>A http://identifiers.org/clinvar/386635 ^@ NM_000093.4(COL5A1):c.2079C>T (p.Pro693=) http://identifiers.org/clinvar/381051 ^@ NM_014000.2(VCL):c.-13G>A http://identifiers.org/clinvar/383294 ^@ NM_004612.3(TGFBR1):c.135T>C (p.Asn45=) http://identifiers.org/clinvar/386735 ^@ NM_032634.3(PIGO):c.2316C>T (p.Gly772=) http://identifiers.org/clinvar/384045 ^@ NM_001278503.1(STT3A):c.509-15G>T http://identifiers.org/clinvar/387235 ^@ NM_000264.3(PTCH1):c.-20G>A http://identifiers.org/clinvar/380098 ^@ NM_005005.2(NDUFB9):c.-18G>T http://identifiers.org/clinvar/388924 ^@ NM_007078.2(LDB3):c.1668T>C (p.Asn556=) http://identifiers.org/clinvar/380850 ^@ NM_012229.4(NT5C2):c.-137G>C http://identifiers.org/clinvar/381852 ^@ NM_004329.2(BMPR1A):c.897A>T (p.Thr299=) http://identifiers.org/clinvar/387185 ^@ NM_000051.3(ATM):c.5649C>T (p.Ser1883=) http://identifiers.org/clinvar/378656 ^@ NM_001130438.2(SPTAN1):c.2760G>A (p.Lys920=) http://identifiers.org/clinvar/381101 ^@ NM_003476.4(CSRP3):c.174C>T (p.Cys58=) http://identifiers.org/clinvar/384996 ^@ NM_007103.3(NDUFV1):c.326+7G>A http://identifiers.org/clinvar/381251 ^@ NM_014191.3(SCN8A):c.706+13G>A http://identifiers.org/clinvar/389574 ^@ NM_000256.3(MYBPC3):c.81C>T (p.Ala27=) http://identifiers.org/clinvar/386285 ^@ NM_024678.5(NARS2):c.-22G>A http://identifiers.org/clinvar/381751 ^@ NM_000093.4(COL5A1):c.4338+18G>C http://identifiers.org/clinvar/387285 ^@ NM_024809.4(TCTN2):c.1394-12T>C http://identifiers.org/clinvar/386535 ^@ NM_006231.3(POLE):c.2174-11G>A http://identifiers.org/clinvar/389124 ^@ NM_007327.3(GRIN1):c.426G>A (p.Pro142=) http://identifiers.org/clinvar/386585 ^@ NM_007327.3(GRIN1):c.2097G>C (p.Leu699=) http://identifiers.org/clinvar/384896 ^@ NM_203447.3(DOCK8):c.12G>T (p.Leu4=) http://identifiers.org/clinvar/387035 ^@ NM_000077.4(CDKN2A):c.*6C>G http://identifiers.org/clinvar/378556 ^@ NM_014191.3(SCN8A):c.867C>T (p.Asn289=) http://identifiers.org/clinvar/383244 ^@ NM_000814.5(GABRB3):c.585C>T (p.Gly195=) http://identifiers.org/clinvar/378100 ^@ NM_002755.3(MAP2K1):c.177G>A (p.Lys59=) http://identifiers.org/clinvar/378908 ^@ NM_000059.3(BRCA2):c.4404T>C (p.Ser1468=) http://identifiers.org/clinvar/381651 ^@ NM_000190.3(HMBS):c.799G>A (p.Val267Met) http://identifiers.org/clinvar/381201 ^@ NM_016417.2(GLRX5):c.-17C>A http://identifiers.org/clinvar/380901 ^@ NM_014844.4(TECPR2):c.1869G>A (p.Gly623=) http://identifiers.org/clinvar/390863 ^@ NM_004517.3(ILK):c.*2A>G http://identifiers.org/clinvar/378758 ^@ NM_000391.3(TPP1):c.509-5T>C http://identifiers.org/clinvar/388974 ^@ NM_005477.2(HCN4):c.990G>T (p.Pro330=) http://identifiers.org/clinvar/380499 ^@ NM_005050.3(ABCD4):c.514G>A (p.Val172Ile) http://identifiers.org/clinvar/379058 ^@ NM_130838.1(UBE3A):c.978T>C (p.Tyr326=) http://identifiers.org/clinvar/386685 ^@ NM_013227.3(ACAN):c.1013C>T (p.Pro338Leu) http://identifiers.org/clinvar/381451 ^@ NM_174917.4(ACSF3):c.297C>T (p.Ser99=) http://identifiers.org/clinvar/388824 ^@ NM_000548.4(TSC2):c.4850-19C>T http://identifiers.org/clinvar/48052 ^@ NM_170707.3(LMNA):c.1804G>A (p.Gly602Ser) http://identifiers.org/clinvar/48102 ^@ NM_000503.5(EYA1):c.1361-1G>T http://identifiers.org/clinvar/48152 ^@ NM_178335.2(CCDC50):c.1396C>T (p.Arg466Trp) http://identifiers.org/clinvar/48202 ^@ NM_194248.2(OTOF):c.2542G>A (p.Asp848Asn) http://identifiers.org/clinvar/48252 ^@ NM_194248.2(OTOF):c.5097C>T (p.Ile1699=) http://identifiers.org/clinvar/48302 ^@ NM_198056.2(SCN5A):c.4086G>A (p.Arg1362=) http://identifiers.org/clinvar/48353 ^@ NM_206933.2(USH2A):c.10585G>A (p.Gly3529Ser) http://identifiers.org/clinvar/48403 ^@ NM_206933.2(USH2A):c.12666A>G (p.Thr4222=) http://identifiers.org/clinvar/48453 ^@ NM_206933.2(USH2A):c.15076A>G (p.Lys5026Glu) http://identifiers.org/clinvar/48504 ^@ NM_206933.2(USH2A):c.3558delT (p.Cys1186Trpfs) http://identifiers.org/clinvar/142 ^@ NM_033409.3(SLC52A3):c.670T>C (p.Phe224Leu) http://identifiers.org/clinvar/292 ^@ NM_000552.4(VWF):c.4837T>C (p.Ser1613Pro) http://identifiers.org/clinvar/301 ^@ NM_000552.4(VWF):c.3814T>C (p.Cys1272Arg) http://identifiers.org/clinvar/306 ^@ NM_000552.4(VWF):c.8317T>C (p.Cys2773Arg) http://identifiers.org/clinvar/526 ^@ NM_001999.3(FBN2):c.3425G>T (p.Cys1142Phe) http://identifiers.org/clinvar/540 ^@ NM_017866.5(TMEM70):c.317-2A>G http://identifiers.org/clinvar/563 ^@ NM_018344.5(SLC29A3):c.1279G>A (p.Gly427Ser) http://identifiers.org/clinvar/827 ^@ NM_000038.5(APC):c.1098_1099delCT (p.Ser367Cysfs) http://identifiers.org/clinvar/905 ^@ NM_000181.3(GUSB):c.526C>T (p.Leu176Phe) http://identifiers.org/clinvar/1143 ^@ NM_145014.2(HYLS1):c.632A>G (p.Asp211Gly) http://identifiers.org/clinvar/1189 ^@ NM_032496.3(ARHGAP9):c.1108T>G (p.Ser370Ala) http://identifiers.org/clinvar/1233 ^@ NM_152419.2(HGSNAT):c.962T>G (p.Leu321Ter) http://identifiers.org/clinvar/1284 ^@ NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) http://identifiers.org/clinvar/1329 ^@ NM_024685.3(BBS10):c.101G>C (p.Arg34Pro) http://identifiers.org/clinvar/1374 ^@ NM_001142301.1(TMEM67):c.1391G>A (p.Gly464Glu) http://identifiers.org/clinvar/1465 ^@ HMBS, IVS9AS, G-A, -1 http://identifiers.org/clinvar/1510 ^@ NM_000298.5(PKLR):c.1436G>A (p.Arg479His) http://identifiers.org/clinvar/1556 ^@ NM_000237.2(LPL):c.987C>A (p.Tyr329Ter) http://identifiers.org/clinvar/1600 ^@ NM_030916.2(NECTIN4):c.851G>A (p.Arg284Gln) http://identifiers.org/clinvar/1650 ^@ THAP1, 1-BP DEL, 474A http://identifiers.org/clinvar/1696 ^@ LHFPL5, 1-BP DEL, 649G http://identifiers.org/clinvar/1742 ^@ NM_005142.2(GIF):c.68A>G (p.Gln23Arg) http://identifiers.org/clinvar/1792 ^@ NM_000102.3(CYP17A1):c.340T>G (p.Phe114Val) http://identifiers.org/clinvar/1837 ^@ MRAP, IVS3, G-C, +1 http://identifiers.org/clinvar/1882 ^@ NM_000255.3(MUT):c.349G>T (p.Glu117Ter) http://identifiers.org/clinvar/1927 ^@ NM_022132.4(MCCC2):c.838G>T (p.Asp280Tyr) http://identifiers.org/clinvar/1972 ^@ ADA, IVS10AS, G-A, -34 http://identifiers.org/clinvar/2016 ^@ NM_001134831.1(AHI1):c.2368_2369insT (p.Asn790Ilefs) http://identifiers.org/clinvar/2600 ^@ NM_058172.5(ANTXR2):c.314G>A (p.Gly105Asp) http://identifiers.org/clinvar/2647 ^@ NM_000391.3(TPP1):c.851G>T (p.Gly284Val) http://identifiers.org/clinvar/2692 ^@ NM_017436.5(A4GALT):c.548T>A (p.Met183Lys) http://identifiers.org/clinvar/2739 ^@ NM_004183.3(BEST1):c.1470_1471delCA (p.His490Glnfs) http://identifiers.org/clinvar/2784 ^@ NM_000158.3(GBE1):c.143+1G>A http://identifiers.org/clinvar/2829 ^@ VPS13B, 1-BP DEL, 11564A http://identifiers.org/clinvar/2874 ^@ NM_174936.3(PCSK9):c.646T>C (p.Phe216Leu) http://identifiers.org/clinvar/2965 ^@ NM_000271.4(NPC1):c.3639G>C (p.Leu1213Phe) http://identifiers.org/clinvar/3107 ^@ NM_005670.3(EPM2A):c.94T>G (p.Trp32Gly) http://identifiers.org/clinvar/3159 ^@ NM_172250.2(MMAA):c.620A>G (p.Tyr207Cys) http://identifiers.org/clinvar/3204 ^@ NM_001079802.1(FKTN):c.527T>C (p.Phe176Ser) http://identifiers.org/clinvar/3252 ^@ NM_007171.3(POMT1):c.2179_2180delTC (p.Ser727Alafs) http://identifiers.org/clinvar/3299 ^@ NM_000268.3(NF2):c.125_126insG (p.Gly43Argfs) http://identifiers.org/clinvar/3343 ^@ NM_000348.3(SRD5A2):c.753delA (p.Phe252Serfs) http://identifiers.org/clinvar/10594 ^@ NM_000133.3(F9):c.682G>C (p.Val228Leu) http://identifiers.org/clinvar/11000 ^@ NM_000531.5(OTC):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/11046 ^@ EDA, 1-BP INS, 573T http://identifiers.org/clinvar/11091 ^@ NM_001128834.2(PLP1):c.725C>T (p.Ala242Val) http://identifiers.org/clinvar/11136 ^@ NM_001287242.1(ARHGAP6):c.49-45951_49-41228del http://identifiers.org/clinvar/11182 ^@ NM_002621.2(CFP):c.298C>T (p.Arg100Trp) http://identifiers.org/clinvar/11227 ^@ DMD, IVS57, G-C, -1 http://identifiers.org/clinvar/11272 ^@ DMD, IVS65, G-A, +1 http://identifiers.org/clinvar/11317 ^@ NM_000033.3(ABCD1):c.-18_8del26 (p.Met1_Gly66del) http://identifiers.org/clinvar/11363 ^@ NM_000061.2(BTK):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/11622 ^@ DIAPH2, INTRONIC BREAKPOINT http://identifiers.org/clinvar/11672 ^@ SMC1A, 3-BP DEL, 2493CCA http://identifiers.org/clinvar/11723 ^@ NM_000489.4(ATRX):c.4950G>T (p.Lys1650Asn) http://identifiers.org/clinvar/11775 ^@ NM_001110556.1(FLNA):c.5217G>A (p.Thr1739=) http://identifiers.org/clinvar/11825 ^@ NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) http://identifiers.org/clinvar/11875 ^@ NM_000137.2(FAH):c.836A>G (p.Gln279Arg) http://identifiers.org/clinvar/11925 ^@ NM_000203.4(IDUA):c.1091C>T (p.Thr364Met) http://identifiers.org/clinvar/11975 ^@ NM_000481.3(AMT):c.139G>A (p.Gly47Arg) http://identifiers.org/clinvar/12027 ^@ ETFDH, 1-BP DEL, 36A http://identifiers.org/clinvar/12077 ^@ NM_000131.4(F7):c.849_865del17 (p.Arg284Hisfs) http://identifiers.org/clinvar/12127 ^@ C2, 28-BP DEL http://identifiers.org/clinvar/12180 ^@ CYP21A2, VAL304MET http://identifiers.org/clinvar/12232 ^@ NM_004360.4(CDH1):c.1849G>A (p.Ala617Thr) http://identifiers.org/clinvar/12283 ^@ NM_000463.2(UGT1A1):c.1070A>G (p.Gln357Arg) http://identifiers.org/clinvar/12335 ^@ NM_001065.3(TNFRSF1A):c.185G>A (p.Cys62Tyr) http://identifiers.org/clinvar/12386 ^@ NM_000594.3(TNF):c.322C>T (p.Arg108Trp) http://identifiers.org/clinvar/12437 ^@ NM_003282.3(TNNI2):c.527_529delAGA (p.Lys176del) http://identifiers.org/clinvar/12488 ^@ NM_000359.2(TGM1):c.1147G>A (p.Val383Met) http://identifiers.org/clinvar/12538 ^@ THRB, EX4-10DEL http://identifiers.org/clinvar/12588 ^@ NM_004985.4(KRAS):c.173C>T (p.Thr58Ile) http://identifiers.org/clinvar/12639 ^@ HNF1B, 1-BP DEL http://identifiers.org/clinvar/12690 ^@ NM_003235.4(TG):c.2610G>T (p.Gln870His) http://identifiers.org/clinvar/12741 ^@ NM_005546.3(ITK):c.1003C>T (p.Arg335Trp) http://identifiers.org/clinvar/12791 ^@ NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) http://identifiers.org/clinvar/12841 ^@ NM_001024858.2(SPTB):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/12892 ^@ NM_006920.4(SCN1A):c.4250T>C (p.Val1417Ala) http://identifiers.org/clinvar/12942 ^@ SPR, -13G-A http://identifiers.org/clinvar/12993 ^@ NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) http://identifiers.org/clinvar/13349 ^@ NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) http://identifiers.org/clinvar/13403 ^@ NM_000311.4(PRNP):c.628G>A (p.Val210Ile) http://identifiers.org/clinvar/36679 ^@ NM_000444.5(PHEX):c.884_885dupCC (p.Met296Profs) http://identifiers.org/clinvar/36733 ^@ NM_001035.2(RYR2):c.14029C>T (p.Leu4677=) http://identifiers.org/clinvar/36784 ^@ NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys) http://identifiers.org/clinvar/36834 ^@ NM_000545.6(HNF1A):c.954C>T (p.His318=) http://identifiers.org/clinvar/36884 ^@ NM_000364.3(TNNT2):c.294+7G>A http://identifiers.org/clinvar/242684 ^@ NM_000570.4(FCGR3B):c.244A= (p.Asn82=) http://identifiers.org/clinvar/36953 ^@ TERC, 212C-G http://identifiers.org/clinvar/37053 ^@ NM_005349.3(RBPJ):c.188A>G (p.Glu63Gly) http://identifiers.org/clinvar/37115 ^@ NM_144605.4(SEPT12):c.589G>A (p.Asp197Asn) http://identifiers.org/clinvar/37252 ^@ NM_018486.2(HDAC8):c.164+5G>A http://identifiers.org/clinvar/37325 ^@ STK4, TRP250TER http://identifiers.org/clinvar/37410 ^@ NM_007294.3(BRCA1):c.1396C>T (p.Arg466Trp) http://identifiers.org/clinvar/37462 ^@ NM_007294.3(BRCA1):c.2299delA (p.Ser767Alafs) http://identifiers.org/clinvar/37517 ^@ NM_007294.3(BRCA1):c.3247A>C (p.Met1083Leu) http://identifiers.org/clinvar/37572 ^@ NM_007294.3(BRCA1):c.4148C>G (p.Ser1383Ter) http://identifiers.org/clinvar/37625 ^@ NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) http://identifiers.org/clinvar/37679 ^@ NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg) http://identifiers.org/clinvar/37733 ^@ NM_000059.3(BRCA2):c.1257delT (p.Cys419Trpfs) http://identifiers.org/clinvar/38357 ^@ NM_002437.4(MPV17):c.485C>A (p.Ala162Asp) http://identifiers.org/clinvar/38414 ^@ NM_024312.4(GNPTAB):c.1580delC (p.Cys528Valfs) http://identifiers.org/clinvar/38561 ^@ NM_000155.3(GALT):c.1087G>A (p.Glu363Lys) http://identifiers.org/clinvar/38742 ^@ NM_000495.3(COL4A5):c.1-?_3246+?del http://identifiers.org/clinvar/38792 ^@ NM_003060.3(SLC22A5):c.847T>A (p.Trp283Arg) http://identifiers.org/clinvar/38916 ^@ NM_001099274.1(TINF2):c.734C>A (p.Ser245Tyr) http://identifiers.org/clinvar/38966 ^@ NM_002473.5(MYH9):c.4270G>T (p.Asp1424Tyr) http://identifiers.org/clinvar/39018 ^@ NM_024312.4(GNPTAB):c.1001G>A (p.Arg334Gln) http://identifiers.org/clinvar/39068 ^@ NM_024312.4(GNPTAB):c.3249+1G>C http://identifiers.org/clinvar/39125 ^@ NM_198253.2(TERT):c.835G>A (p.Ala279Thr) http://identifiers.org/clinvar/39175 ^@ NM_198578.3(LRRK2):c.3974G>A (p.Arg1325Gln) http://identifiers.org/clinvar/39225 ^@ NM_198578.3(LRRK2):c.6415T>A (p.Cys2139Ser) http://identifiers.org/clinvar/39276 ^@ NM_213599.2(ANO5):c.1407+5G>A http://identifiers.org/clinvar/39438 ^@ NM_198506.4(LRIT3):c.983G>A (p.Cys328Tyr) http://identifiers.org/clinvar/39490 ^@ NM_004826.3(ECEL1):c.1252C>A (p.Arg418Ser) http://identifiers.org/clinvar/39540 ^@ NM_001139.2(ALOX12B):c.2036G>T (p.Arg679Leu) http://identifiers.org/clinvar/39590 ^@ NM_001060.5(TBXA2R):c.722T>G (p.Val241Gly) http://identifiers.org/clinvar/39642 ^@ NM_004670.3(PAPSS2):c.337dupG (p.Ala113Glyfs) http://identifiers.org/clinvar/39694 ^@ NM_005334.2(HCFC1):c.-970T>C http://identifiers.org/clinvar/39744 ^@ BCKDK, 1-BP DEL, 222G http://identifiers.org/clinvar/39795 ^@ NM_012472.5(LRRC6):c.574C>T (p.Gln192Ter) http://identifiers.org/clinvar/39846 ^@ NM_001410.2(MEGF8):c.7099A>G (p.Ser2367Gly) http://identifiers.org/clinvar/40000 ^@ EFEMP2, 1-BP DEL, 577C http://identifiers.org/clinvar/40158 ^@ m.7443A>G http://identifiers.org/clinvar/40257 ^@ NM_002495.3(NDUFS4):c.462delA (p.Lys154Asnfs) http://identifiers.org/clinvar/40387 ^@ NM_004333.4(BRAF):c.1787G>T (p.Gly596Val) http://identifiers.org/clinvar/40452 ^@ NM_004985.4(KRAS):c.65A>G (p.Gln22Arg) http://identifiers.org/clinvar/40577 ^@ NM_002880.3(RAF1):c.-201C>A http://identifiers.org/clinvar/51130 ^@ NM_000059.3(BRCA2):c.1463T>G (p.Ile488Arg) http://identifiers.org/clinvar/51181 ^@ NM_000059.3(BRCA2):c.1744A>G (p.Thr582Ala) http://identifiers.org/clinvar/51233 ^@ NM_000059.3(BRCA2):c.196C>T (p.Gln66Ter) http://identifiers.org/clinvar/51284 ^@ NM_000059.3(BRCA2):c.2435dupA (p.Asn812Lysfs) http://identifiers.org/clinvar/51335 ^@ NM_000059.3(BRCA2):c.273C>G (p.Tyr91Ter) http://identifiers.org/clinvar/52301 ^@ NM_000059.3(BRCA2):c.7261C>T (p.Gln2421Ter) http://identifiers.org/clinvar/52351 ^@ NM_000059.3(BRCA2):c.7543delA (p.Thr2515Hisfs) http://identifiers.org/clinvar/52807 ^@ NM_000059.3(BRCA2):c.9291T>A (p.Cys3097Ter) http://identifiers.org/clinvar/52858 ^@ NM_000059.3(BRCA2):c.9502-2A>C http://identifiers.org/clinvar/52908 ^@ NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) http://identifiers.org/clinvar/52958 ^@ NM_000218.2(KCNQ1):c.1101G>T (p.Gln367His) http://identifiers.org/clinvar/53008 ^@ NM_000218.2(KCNQ1):c.1700T>G (p.Ile567Ser) http://identifiers.org/clinvar/53058 ^@ NM_000218.2(KCNQ1):c.520C>T (p.Arg174Cys) http://identifiers.org/clinvar/53108 ^@ NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) http://identifiers.org/clinvar/53160 ^@ NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) http://identifiers.org/clinvar/53212 ^@ NM_000492.3(CFTR):c.1202G>A (p.Trp401Ter) http://identifiers.org/clinvar/53264 ^@ NM_000492.3(CFTR):c.1482_1483delTT (p.Ser495Leufs) http://identifiers.org/clinvar/53315 ^@ NM_000492.3(CFTR):c.165-2A>G http://identifiers.org/clinvar/53365 ^@ NM_000492.3(CFTR):c.1736A>G (p.Asp579Gly) http://identifiers.org/clinvar/53415 ^@ NM_000492.3(CFTR):c.1919_1920delTT (p.Phe640Terfs) http://identifiers.org/clinvar/53467 ^@ NM_000492.3(CFTR):c.2279C>T (p.Thr760Met) http://identifiers.org/clinvar/53520 ^@ NM_000492.3(CFTR):c.259T>C (p.Phe87Leu) http://identifiers.org/clinvar/53570 ^@ NM_000492.3(CFTR):c.2799A>T (p.Arg933Ser) http://identifiers.org/clinvar/53621 ^@ NM_000492.3(CFTR):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/56108 ^@ NM_000170.2(GLDC):c.887T>G (p.Leu296Arg) http://identifiers.org/clinvar/56163 ^@ NM_001168357.1(PLA2G7):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/56213 ^@ NM_000310.3(PPT1):c.727-2A>T http://identifiers.org/clinvar/56264 ^@ NM_001042432.1(CLN3):c.370dupT (p.Tyr124Leufs) http://identifiers.org/clinvar/56316 ^@ NM_001080522.2(CC2D2A):c.685_687delGAA (p.Glu229del) http://identifiers.org/clinvar/56366 ^@ NM_001126105.2(SLC7A7):c.371T>C (p.Leu124Pro) http://identifiers.org/clinvar/56418 ^@ NM_004646.3(NPHS1):c.1040G>A (p.Gly347Glu) http://identifiers.org/clinvar/56468 ^@ NM_004646.3(NPHS1):c.2225T>C (p.Ile742Thr) http://identifiers.org/clinvar/56518 ^@ NM_004646.3(NPHS1):c.614_621delCACCCCGGinsTT (p.Thr205_Arg207delinsIle) http://identifiers.org/clinvar/56569 ^@ NM_015294.4(TRIM37):c.227T>C (p.Leu76Pro) http://identifiers.org/clinvar/56627 ^@ NM_017777.3(MKS1):c.958G>A (p.Val320Ile) http://identifiers.org/clinvar/56677 ^@ NM_017890.4(VPS13B):c.5750delC (p.Ser1917Phefs) http://identifiers.org/clinvar/56727 ^@ NM_021830.4(TWNK):c.1387C>T (p.Arg463Trp) http://identifiers.org/clinvar/56777 ^@ NM_153704.5(TMEM67):c.2557A>T (p.Lys853Ter) http://identifiers.org/clinvar/56967 ^@ NM_001753.4(CAV1):c.474delA (p.Leu159Serfs) http://identifiers.org/clinvar/57039 ^@ GRCh38/hg38 18q22.2(chr18:69556939-69821230)x3 http://identifiers.org/clinvar/57092 ^@ GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3 http://identifiers.org/clinvar/57147 ^@ GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3 http://identifiers.org/clinvar/57197 ^@ GRCh38/hg38 9q34.3(chr9:137778047-137818152)x1 http://identifiers.org/clinvar/57250 ^@ GRCh38/hg38 Yp11.32-11.2(chrY:10679-1339321)x0 http://identifiers.org/clinvar/57304 ^@ GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3 http://identifiers.org/clinvar/57357 ^@ GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 http://identifiers.org/clinvar/101175 ^@ NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del) http://identifiers.org/clinvar/101225 ^@ NM_000090.3(COL3A1):c.1099_1116del18 (p.Gln367_Gly372del) http://identifiers.org/clinvar/101275 ^@ NP_000081.1:p.Gly780_Asp1013del http://identifiers.org/clinvar/101325 ^@ NM_000090.3(COL3A1):c.1773dupT (p.Lys592Terfs) http://identifiers.org/clinvar/101375 ^@ NM_000090.3(COL3A1):c.3518G>T (p.Gly1173Val) http://identifiers.org/clinvar/101425 ^@ NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) http://identifiers.org/clinvar/101475 ^@ NM_000090.3(COL3A1):c.2023-1G>A (p.Gly675Valfs*116) http://identifiers.org/clinvar/102854 ^@ NM_000277.1(PAH):c.824C>G (p.Pro275Arg) http://identifiers.org/clinvar/125806 ^@ NM_007294.3(BRCA1):c.5200T>C (p.Phe1734Leu) http://identifiers.org/clinvar/125869 ^@ L824X http://identifiers.org/clinvar/125932 ^@ C341Y http://identifiers.org/clinvar/125996 ^@ NM_000059.3(BRCA2):c.2836G>C (p.Asp946His) http://identifiers.org/clinvar/126063 ^@ NM_000059.3(BRCA2):c.5222_5225delGTAA (p.Ser1741Thrfs) http://identifiers.org/clinvar/126134 ^@ NM_000059.3(BRCA2):c.7283delT (p.Leu2428Trpfs) http://identifiers.org/clinvar/126192 ^@ NM_000059.3(BRCA2):c.681+56C>T http://identifiers.org/clinvar/126252 ^@ NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) http://identifiers.org/clinvar/126302 ^@ NM_153704.5(TMEM67):c.2161C>T (p.Pro721Ser) http://identifiers.org/clinvar/126353 ^@ NM_003070.4(SMARCA2):c.705_707delGCA (p.Gln238del) http://identifiers.org/clinvar/126409 ^@ NM_015474.3(SAMHD1):c.1609-1G>C http://identifiers.org/clinvar/126477 ^@ NM_021625.4(TRPV4):c.2330G>A (p.Cys777Tyr) http://identifiers.org/clinvar/126562 ^@ NM_199189.2(MATR3):c.1864A>G (p.Thr622Ala) http://identifiers.org/clinvar/126614 ^@ NM_024675.3(PALB2):c.1676_1677delAAinsG (p.Gln559Argfs) http://identifiers.org/clinvar/126666 ^@ NM_024675.3(PALB2):c.2587-38C>G http://identifiers.org/clinvar/126716 ^@ NM_024675.3(PALB2):c.3128G>C (p.Gly1043Ala) http://identifiers.org/clinvar/126767 ^@ NM_024675.3(PALB2):c.751C>T (p.Gln251Ter) http://identifiers.org/clinvar/126818 ^@ NM_000321.2(RB1):c.103C>T (p.Gln35Ter) http://identifiers.org/clinvar/126871 ^@ NM_000610.3(CD44):c.68-9931G>A http://identifiers.org/clinvar/126927 ^@ NM_001127464.2(ZNF469):c.6007G>A (p.Glu2003Lys) http://identifiers.org/clinvar/126977 ^@ NM_000251.2(MSH2):c.1076+176A>G http://identifiers.org/clinvar/127027 ^@ NM_005591.3(MRE11):c.1995-111G>T http://identifiers.org/clinvar/127079 ^@ NM_005682.6(ADGRG1):c.-153-2202_-153-2188delCAACGGTTGCCAGGG http://identifiers.org/clinvar/127148 ^@ NM_005861.3(STUB1):c.719T>C (p.Met240Thr) http://identifiers.org/clinvar/127250 ^@ NM_014171.5(CRIPT):c.141delT (p.Phe47Leufs) http://identifiers.org/clinvar/127301 ^@ NM_000038.5(APC):c.5017G>A (p.Glu1673Lys) http://identifiers.org/clinvar/165180 ^@ NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) http://identifiers.org/clinvar/165096 ^@ NM_001035.2(RYR2):c.4347T>C (p.Asp1449=) http://identifiers.org/clinvar/178178 ^@ NM_133378.4(TTN):c.79433T>G (p.Met26478Arg) http://identifiers.org/clinvar/165801 ^@ NM_001256850.1(TTN):c.76963delG (p.Glu25655Lysfs) http://identifiers.org/clinvar/178578 ^@ NM_206933.2(USH2A):c.6524G>A (p.Arg2175His) http://identifiers.org/clinvar/165910 ^@ NM_133378.4(TTN):c.55483+8G>A http://identifiers.org/clinvar/166477 ^@ NM_206933.2(USH2A):c.6874C>T (p.Arg2292Cys) http://identifiers.org/clinvar/166106 ^@ NM_133378.4(TTN):c.29848+6T>C http://identifiers.org/clinvar/178228 ^@ NM_133378.4(TTN):c.28339G>A (p.Ala9447Thr) http://identifiers.org/clinvar/166240 ^@ NM_001256850.1(TTN):c.11040T>C (p.Ile3680=) http://identifiers.org/clinvar/178897 ^@ NM_133379.4(TTN):c.12409G>C (p.Asp4137His) http://identifiers.org/clinvar/166290 ^@ NM_001256850.1(TTN):c.10046C>T (p.Thr3349Ile) http://identifiers.org/clinvar/166350 ^@ NM_001256850.1(TTN):c.1398+5G>A http://identifiers.org/clinvar/178278 ^@ NM_001256850.1(TTN):c.289G>A (p.Val97Met) http://identifiers.org/clinvar/164865 ^@ NM_194248.2(OTOF):c.2316-4C>A http://identifiers.org/clinvar/178746 ^@ NM_001369.2(DNAH5):c.8449-12T>C http://identifiers.org/clinvar/165984 ^@ NM_133378.4(TTN):c.45992T>C (p.Ile15331Thr) http://identifiers.org/clinvar/178128 ^@ NM_198056.2(SCN5A):c.5202C>T (p.Asn1734=) http://identifiers.org/clinvar/165245 ^@ NM_000441.1(SLC26A4):c.-4+5G>A http://identifiers.org/clinvar/198895 ^@ NM_020631.4(PLEKHG5):c.713C>G (p.Thr238Ser) http://identifiers.org/clinvar/198948 ^@ NM_001080463.1(DYNC2H1):c.11946C>T (p.Cys3982=) http://identifiers.org/clinvar/199000 ^@ NM_000254.2(MTR):c.858C>T (p.Pro286=) http://identifiers.org/clinvar/199050 ^@ NM_000402.4(G6PD):c.955-16C>T http://identifiers.org/clinvar/199103 ^@ NM_001077482.2(NR1I3):c.1029G>T (p.Gln343His) http://identifiers.org/clinvar/199155 ^@ NM_020223.3(FAM20C):c.1505+5A>G http://identifiers.org/clinvar/199206 ^@ NM_033071.3(SYNE1):c.16994-11_16994-10delTT http://identifiers.org/clinvar/199262 ^@ DOCK2, 2-BP INS http://identifiers.org/clinvar/217366 ^@ NM_130838.1(UBE3A):c.947T>C (p.Met316Thr) http://identifiers.org/clinvar/200956 ^@ NM_170707.3(LMNA):c.381_383delGATinsTGGTCACCTGAGAG (p.Ile128Glyfs) http://identifiers.org/clinvar/201204 ^@ NM_001035.2(RYR2):c.839T>C (p.Leu280Pro) http://identifiers.org/clinvar/199710 ^@ NM_000090.3(COL3A1):c.528+5G>C http://identifiers.org/clinvar/199932 ^@ NM_004415.3(DSP):c.866G>T (p.Cys289Phe) http://identifiers.org/clinvar/199875 ^@ NM_004415.3(DSP):c.2774G>A (p.Arg925Gln) http://identifiers.org/clinvar/200520 ^@ NM_000238.3(KCNH2):c.3052C>G (p.Pro1018Ala) http://identifiers.org/clinvar/200650 ^@ NM_000238.3(KCNH2):c.2395delC (p.Leu799Trpfs) http://identifiers.org/clinvar/200224 ^@ NM_000238.3(KCNH2):c.1581G>A (p.Ala527=) http://identifiers.org/clinvar/200344 ^@ NM_000238.3(KCNH2):c.1471G>A (p.Val491Ile) http://identifiers.org/clinvar/200759 ^@ NM_000238.3(KCNH2):c.373_374insGTGG (p.Phe125Cysfs) http://identifiers.org/clinvar/200897 ^@ NM_000218.2(KCNQ1):c.707T>G (p.Leu236Arg) http://identifiers.org/clinvar/200841 ^@ NM_000218.2(KCNQ1):c.1123A>T (p.Ile375Phe) http://identifiers.org/clinvar/200099 ^@ NM_000138.4(FBN1):c.6959A>T (p.Asp2320Val) http://identifiers.org/clinvar/200047 ^@ NM_000138.4(FBN1):c.4492A>G (p.Ile1498Val) http://identifiers.org/clinvar/200160 ^@ NM_000138.4(FBN1):c.4405delC (p.Arg1469Alafs) http://identifiers.org/clinvar/199990 ^@ NM_000138.4(FBN1):c.2153C>T (p.Thr718Met) http://identifiers.org/clinvar/201085 ^@ NM_002474.2(MYH11):c.5450C>T (p.Ala1817Val) http://identifiers.org/clinvar/201031 ^@ NM_002474.2(MYH11):c.3949C>A (p.Leu1317Ile) http://identifiers.org/clinvar/199765 ^@ NM_024422.4(DSC2):c.994T>C (p.Tyr332His) http://identifiers.org/clinvar/199821 ^@ NM_001943.4(DSG2):c.3167C>T (p.Thr1056Ile) http://identifiers.org/clinvar/201144 ^@ NM_000540.2(RYR1):c.1861A>G (p.Thr621Ala) http://identifiers.org/clinvar/201711 ^@ NM_001927.3(DES):c.146T>C (p.Val49Ala) http://identifiers.org/clinvar/242582 ^@ NM_000414.3(HSD17B4):c.819G>T (p.Trp273Cys) http://identifiers.org/clinvar/202944 ^@ NM_001256850.1(TTN):c.82807C>T (p.Pro27603Ser) http://identifiers.org/clinvar/202894 ^@ NM_001256850.1(TTN):c.74932C>T (p.Arg24978Cys) http://identifiers.org/clinvar/202844 ^@ NM_001256850.1(TTN):c.67901A>T (p.Lys22634Ile) http://identifiers.org/clinvar/202794 ^@ NM_001256850.1(TTN):c.60259C>G (p.Leu20087Val) http://identifiers.org/clinvar/232422 ^@ NM_005732.3(RAD50):c.906G>A (p.Glu302=) http://identifiers.org/clinvar/231522 ^@ NM_005732.3(RAD50):c.2457A>G (p.Ile819Met) http://identifiers.org/clinvar/234165 ^@ NM_005732.3(RAD50):c.3389+1G>A http://identifiers.org/clinvar/231372 ^@ NM_005732.3(RAD50):c.3907A>G (p.Ser1303Gly) http://identifiers.org/clinvar/234215 ^@ NM_004168.3(SDHA):c.935G>C (p.Arg312Pro) http://identifiers.org/clinvar/233764 ^@ NM_000535.6(PMS2):c.2546C>T (p.Thr849Ile) http://identifiers.org/clinvar/234015 ^@ NM_000535.6(PMS2):c.1806C>G (p.Ala602=) http://identifiers.org/clinvar/233412 ^@ NM_000535.6(PMS2):c.702G>A (p.Lys234=) http://identifiers.org/clinvar/231622 ^@ NM_002485.4(NBN):c.896+4T>C http://identifiers.org/clinvar/232122 ^@ NM_020975.4(RET):c.2492G>T (p.Gly831Val) http://identifiers.org/clinvar/232272 ^@ NM_000051.3(ATM):c.3676G>C (p.Asp1226His) http://identifiers.org/clinvar/233915 ^@ NM_000051.3(ATM):c.6848C>T (p.Ser2283Leu) http://identifiers.org/clinvar/231772 ^@ NM_000051.3(ATM):c.8138G>A (p.Arg2713Lys) http://identifiers.org/clinvar/232072 ^@ NM_000051.3(ATM):c.8517C>A (p.Phe2839Leu) http://identifiers.org/clinvar/231572 ^@ NM_000051.3(ATM):c.9166delG (p.Val3056Cysfs) http://identifiers.org/clinvar/229733 ^@ NM_005591.3(MRE11):c.37T>C (p.Phe13Leu) http://identifiers.org/clinvar/233312 ^@ NM_000059.3(BRCA2):c.3984T>C (p.Ser1328=) http://identifiers.org/clinvar/231922 ^@ NM_000059.3(BRCA2):c.7976+4A>G http://identifiers.org/clinvar/230383 ^@ NM_000548.4(TSC2):c.867G>A (p.Ala289=) http://identifiers.org/clinvar/233562 ^@ NM_024675.3(PALB2):c.*4A>G http://identifiers.org/clinvar/232522 ^@ NM_024675.3(PALB2):c.2609T>C (p.Val870Ala) http://identifiers.org/clinvar/234115 ^@ NM_024675.3(PALB2):c.1960A>G (p.Ile654Val) http://identifiers.org/clinvar/232322 ^@ NM_024675.3(PALB2):c.1415A>G (p.Gln472Arg) http://identifiers.org/clinvar/231872 ^@ NM_001042492.2(NF1):c.373C>T (p.Arg125Cys) http://identifiers.org/clinvar/230333 ^@ NM_001042492.2(NF1):c.2856A>G (p.Leu952=) http://identifiers.org/clinvar/231672 ^@ NM_001042492.2(NF1):c.3318C>T (p.Tyr1106=) http://identifiers.org/clinvar/233512 ^@ NM_001042492.2(NF1):c.4878T>C (p.His1626=) http://identifiers.org/clinvar/231472 ^@ NM_001042492.2(NF1):c.5577A>C (p.Leu1859Phe) http://identifiers.org/clinvar/229883 ^@ NM_002878.3(RAD51D):c.716G>A (p.Arg239Gln) http://identifiers.org/clinvar/232172 ^@ NM_002878.3(RAD51D):c.455C>A (p.Ala152Asp) http://identifiers.org/clinvar/231972 ^@ NM_002878.3(RAD51D):c.442C>T (p.Gln148Ter) http://identifiers.org/clinvar/229833 ^@ NM_007294.3(BRCA1):c.5025T>C (p.Thr1675=) http://identifiers.org/clinvar/233462 ^@ NM_007294.3(BRCA1):c.2666dupC (p.Gly890Trpfs) http://identifiers.org/clinvar/231422 ^@ NM_007294.3(BRCA1):c.716A>T (p.His239Leu) http://identifiers.org/clinvar/231722 ^@ NM_007294.3(BRCA1):c.86A>G (p.Glu29Gly) http://identifiers.org/clinvar/233362 ^@ NM_032043.2(BRIP1):c.1762G>A (p.Val588Met) http://identifiers.org/clinvar/233865 ^@ NM_032043.2(BRIP1):c.1659A>G (p.Gln553=) http://identifiers.org/clinvar/232022 ^@ NM_032043.2(BRIP1):c.311C>T (p.Thr104Ile) http://identifiers.org/clinvar/233612 ^@ NM_000455.4(STK11):c.608C>G (p.Pro203Arg) http://identifiers.org/clinvar/229683 ^@ NM_007194.3(CHEK2):c.308T>C (p.Phe103Ser) http://identifiers.org/clinvar/232222 ^@ NM_007194.3(CHEK2):c.222T>C (p.Ile74=) http://identifiers.org/clinvar/238668 ^@ NM_001232.3(CASQ2):c.1015-3C>T http://identifiers.org/clinvar/240762 ^@ NM_007272.2(CTRC):c.110G>A (p.Arg37Gln) http://identifiers.org/clinvar/238168 ^@ NM_000702.3(ATP1A2):c.2636G>A (p.Arg879Gln) http://identifiers.org/clinvar/239561 ^@ NM_003738.4(PTCH2):c.44C>T (p.Thr15Ile) http://identifiers.org/clinvar/240712 ^@ NM_006922.3(SCN3A):c.4878C>T (p.Ala1626=) http://identifiers.org/clinvar/238868 ^@ NM_001267550.2(TTN):c.95379T>G (p.Pro31793=) http://identifiers.org/clinvar/238818 ^@ NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln) http://identifiers.org/clinvar/238768 ^@ NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile) http://identifiers.org/clinvar/238718 ^@ NM_001267550.2(TTN):c.20696A>G (p.Glu6899Gly) http://identifiers.org/clinvar/241312 ^@ NM_020919.3(ALS2):c.475G>A (p.Glu159Lys) http://identifiers.org/clinvar/237818 ^@ NM_000465.3(BARD1):c.1315-4C>G http://identifiers.org/clinvar/239811 ^@ NM_004304.4(ALK):c.2676C>T (p.Ala892=) http://identifiers.org/clinvar/237768 ^@ NM_000388.3(CASR):c.3031C>G (p.Gln1011Glu) http://identifiers.org/clinvar/240662 ^@ NM_006514.3(SCN10A):c.1277G>A (p.Arg426Gln) http://identifiers.org/clinvar/240061 ^@ NM_004656.3(BAP1):c.519T>C (p.Tyr173=) http://identifiers.org/clinvar/238218 ^@ NM_001031717.3(CRELD1):c.575G>A (p.Cys192Tyr) http://identifiers.org/clinvar/238568 ^@ NM_001148.4(ANK2):c.11695G>T (p.Val3899Phe) http://identifiers.org/clinvar/240362 ^@ NM_006206.4(PDGFRA):c.801A>G (p.Pro267=) http://identifiers.org/clinvar/240312 ^@ NM_006206.4(PDGFRA):c.1644T>C (p.Ile548=) http://identifiers.org/clinvar/240212 ^@ NM_005732.3(RAD50):c.1605T>C (p.Arg535=) http://identifiers.org/clinvar/239661 ^@ NM_004168.3(SDHA):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/238618 ^@ NM_001190787.1(MCIDAS):c.120+3G>A http://identifiers.org/clinvar/240162 ^@ NM_005431.1(XRCC2):c.608C>T (p.Ser203Leu) http://identifiers.org/clinvar/258521 ^@ NM_001999.3(FBN2):c.6166+24G>A http://identifiers.org/clinvar/257971 ^@ NM_001369.2(DNAH5):c.10102-29C>T http://identifiers.org/clinvar/258071 ^@ NM_001369.2(DNAH5):c.9721-12A>G http://identifiers.org/clinvar/258021 ^@ NM_001369.2(DNAH5):c.3777G>A (p.Ala1259=) http://identifiers.org/clinvar/263050 ^@ NM_182925.4(FLT4):c.3437G>A (p.Arg1146His) http://identifiers.org/clinvar/256082 ^@ NM_000426.3(LAMA2):c.6706A>C (p.Arg2236=) http://identifiers.org/clinvar/260861 ^@ NM_017651.4(AHI1):c.724C>T (p.Pro242Ser) http://identifiers.org/clinvar/256032 ^@ NM_000409.4(GUCA1A):c.567C>T (p.Asp189=) http://identifiers.org/clinvar/262400 ^@ NM_138694.3(PKHD1):c.3783C>T (p.Gly1261=) http://identifiers.org/clinvar/259610 ^@ NM_005045.3(RELN):c.6523+43_6523+44insACATTGT http://identifiers.org/clinvar/260261 ^@ NM_012470.3(TNPO3):c.2062-12T>G http://identifiers.org/clinvar/257921 ^@ NM_001277115.1(DNAH11):c.6607T>C (p.Leu2203=) http://identifiers.org/clinvar/257871 ^@ NM_001277115.1(DNAH11):c.13278A>G (p.Ala4426=) http://identifiers.org/clinvar/260761 ^@ NM_016616.4(NME8):c.388-3T>C http://identifiers.org/clinvar/263100 ^@ NM_194456.1(KRIT1):c.486-37C>G http://identifiers.org/clinvar/262800 ^@ NM_172218.2(SPAG1):c.1097-20C>T http://identifiers.org/clinvar/259961 ^@ NM_006265.2(RAD21):c.1185G>A (p.Pro395=) http://identifiers.org/clinvar/257671 ^@ NM_001253816.1(SLC52A2):c.*19C>T http://identifiers.org/clinvar/260911 ^@ NM_017780.3(CHD7):c.5894+32C>G http://identifiers.org/clinvar/262750 ^@ NM_153704.5(TMEM67):c.312+30C>G http://identifiers.org/clinvar/260411 ^@ NM_014425.4(INVS):c.273+46C>T http://identifiers.org/clinvar/259811 ^@ NM_005592.3(MUSK):c.628+22C>G http://identifiers.org/clinvar/258621 ^@ NM_002316.3(LMX1B):c.139+19C>T http://identifiers.org/clinvar/260511 ^@ NM_015046.5(SETX):c.6507G>A (p.Gly2169=) http://identifiers.org/clinvar/262450 ^@ NM_139025.4(ADAMTS13):c.4221C>A (p.Thr1407=) http://identifiers.org/clinvar/258171 ^@ NM_001698.2(AUH):c.795C>T (p.Asp265=) http://identifiers.org/clinvar/262850 ^@ NM_173551.4(ANKS6):c.2613G>A (p.Ala871=) http://identifiers.org/clinvar/260161 ^@ NM_007373.3(SHOC2):c.1541-29A>T http://identifiers.org/clinvar/260811 ^@ NM_017433.4(MYO3A):c.4438+18T>C http://identifiers.org/clinvar/260461 ^@ NM_014915.2(ANKRD26):c.2376-16A>G http://identifiers.org/clinvar/260111 ^@ NM_007078.2(LDB3):c.322-20C>T http://identifiers.org/clinvar/260711 ^@ NM_016341.3(PLCE1):c.1405T>A (p.Ser469Thr) http://identifiers.org/clinvar/255932 ^@ NM_000352.4(ABCC8):c.4542C>A (p.Ala1514=) http://identifiers.org/clinvar/263250 ^@ NM_199292.2(TH):c.1070+8C>G http://identifiers.org/clinvar/258971 ^@ NM_003156.3(STIM1):c.1474+17C>G http://identifiers.org/clinvar/258571 ^@ NM_002180.2(IGHMBP2):c.2532G>A (p.Ala844=) http://identifiers.org/clinvar/261461 ^@ NM_021957.3(GYS2):c.1063-15C>G http://identifiers.org/clinvar/258221 ^@ NM_001844.4(COL2A1):c.2050-49G>T http://identifiers.org/clinvar/259761 ^@ NM_005379.3(MYO1A):c.1533+17G>A http://identifiers.org/clinvar/263300 ^@ NM_207361.5(FREM2):c.6977C>T (p.Thr2326Ile) http://identifiers.org/clinvar/261011 ^@ NM_018139.2(DNAAF2):c.129C>T (p.Leu43=) http://identifiers.org/clinvar/335847 ^@ NM_014946.3(SPAST):c.*521A>G http://identifiers.org/clinvar/332756 ^@ NM_133378.4(TTN):c.75488T>C (p.Leu25163Ser) http://identifiers.org/clinvar/332806 ^@ NM_133378.4(TTN):c.57706T>C (p.Trp19236Arg) http://identifiers.org/clinvar/333156 ^@ NM_014585.5(SLC40A1):c.*646C>T http://identifiers.org/clinvar/335997 ^@ NM_005633.3(SOS1):c.*1309A>G http://identifiers.org/clinvar/333256 ^@ NM_007315.3(STAT1):c.*670T>G http://identifiers.org/clinvar/335547 ^@ NM_015636.3(EIF2B4):c.69G>T (p.Gly23=) http://identifiers.org/clinvar/336347 ^@ NM_139279.5(MCFD2):c.*1924T>C http://identifiers.org/clinvar/333556 ^@ NM_001044385.2(TMEM237):c.*470_*473delGAGT http://identifiers.org/clinvar/333206 ^@ NM_000534.4(PMS1):c.823-14A>G http://identifiers.org/clinvar/336454 ^@ NM_000233.3(LHCGR):c.*221G>C http://identifiers.org/clinvar/336504 ^@ NM_001135659.2(NRXN1):c.*2514A>G http://identifiers.org/clinvar/336604 ^@ NM_001135659.2(NRXN1):c.-1475_-1474insACTCTC http://identifiers.org/clinvar/335797 ^@ NM_000379.3(XDH):c.606G>A (p.Thr202=) http://identifiers.org/clinvar/335897 ^@ NM_001011.3(RPS7):c.-36A>C http://identifiers.org/clinvar/336904 ^@ NM_001004311.3(FIGLA):c.*53A>C http://identifiers.org/clinvar/336147 ^@ NM_133259.3(LRPPRC):c.3900+14C>T http://identifiers.org/clinvar/336954 ^@ NM_003494.3(DYSF):c.1522+11G>C http://identifiers.org/clinvar/336297 ^@ NM_001430.4(EPAS1):c.*703_*706dupGAGT http://identifiers.org/clinvar/337104 ^@ NM_006302.2(MOGS):c.2353G>A (p.Gly785Ser) http://identifiers.org/clinvar/333906 ^@ NM_015040.3(PIKFYVE):c.2802T>A (p.Ile934=) http://identifiers.org/clinvar/337404 ^@ NM_004836.6(EIF2AK3):c.2237T>C (p.Met746Thr) http://identifiers.org/clinvar/336554 ^@ NM_001135659.2(NRXN1):c.521T>C (p.Val174Ala) http://identifiers.org/clinvar/337504 ^@ NM_017849.3(TMEM127):c.379C>T (p.Arg127Cys) http://identifiers.org/clinvar/336654 ^@ NM_001114636.1(FANCL):c.947dupA (p.Tyr316Terfs) http://identifiers.org/clinvar/334208 ^@ NM_173076.2(ABCA12):c.*790A>G http://identifiers.org/clinvar/336704 ^@ NM_002618.3(PEX13):c.*2642T>C http://identifiers.org/clinvar/334258 ^@ NM_173076.2(ABCA12):c.2159G>A (p.Gly720Glu) http://identifiers.org/clinvar/334508 ^@ NM_015311.2(OBSL1):c.2168G>A (p.Arg723Lys) http://identifiers.org/clinvar/334308 ^@ NM_015488.4(PNKD):c.37C>T (p.Arg13Trp) http://identifiers.org/clinvar/342444 ^@ NM_000551.3(VHL):c.*1680T>C http://identifiers.org/clinvar/342494 ^@ NM_000551.3(VHL):c.*3128G>A http://identifiers.org/clinvar/334558 ^@ NM_181457.3(PAX3):c.1204G>A (p.Val402Ile) http://identifiers.org/clinvar/342644 ^@ NM_020754.3(ARHGAP31):c.1491C>A (p.Arg497=) http://identifiers.org/clinvar/335247 ^@ NM_004321.7(KIF1A):c.*485C>G http://identifiers.org/clinvar/342294 ^@ NM_016247.3(IMPG2):c.*2435T>C http://identifiers.org/clinvar/335397 ^@ NM_000183.2(HADHB):c.-176G>T http://identifiers.org/clinvar/335447 ^@ NM_194248.2(OTOF):c.2401G>T (p.Glu801Ter) http://identifiers.org/clinvar/335497 ^@ NM_000221.2(KHK):c.790G>A (p.Val264Ile) http://identifiers.org/clinvar/342694 ^@ NM_020754.3(ARHGAP31):c.*1219C>T http://identifiers.org/clinvar/335347 ^@ NM_152783.4(D2HGDH):c.*688G>A http://identifiers.org/clinvar/335747 ^@ NM_000379.3(XDH):c.*829G>A http://identifiers.org/clinvar/335947 ^@ NM_000104.3(CYP1B1):c.*115G>A http://identifiers.org/clinvar/335597 ^@ NM_001029883.2(C2orf71):c.*1746G>A http://identifiers.org/clinvar/335647 ^@ NM_001029883.2(C2orf71):c.2707C>A (p.Pro903Thr) http://identifiers.org/clinvar/336047 ^@ NM_022436.2(ABCG5):c.803T>A (p.Phe268Tyr) http://identifiers.org/clinvar/335697 ^@ NM_004304.4(ALK):c.3085C>G (p.Pro1029Ala) http://identifiers.org/clinvar/336097 ^@ NM_133259.3(LRPPRC):c.*2376C>G http://identifiers.org/clinvar/357389 ^@ NM_138694.3(PKHD1):c.*1217G>A http://identifiers.org/clinvar/357489 ^@ NM_018100.3(EFHC1):c.*121C>A http://identifiers.org/clinvar/354699 ^@ NM_001491.2(GCNT2):c.8T>C (p.Leu3Ser) http://identifiers.org/clinvar/357939 ^@ NM_004415.3(DSP):c.1149A>G (p.Glu383=) http://identifiers.org/clinvar/357989 ^@ NM_004999.3(MYO6):c.262-9C>T http://identifiers.org/clinvar/354999 ^@ NM_004752.3(GCM2):c.*630T>A http://identifiers.org/clinvar/358189 ^@ NM_183050.3(BCKDHB):c.*763G>A http://identifiers.org/clinvar/358289 ^@ NM_003227.3(TFR2):c.1504G>A (p.Val502Ile) http://identifiers.org/clinvar/355200 ^@ NM_006073.3(TRDN):c.*1083T>C http://identifiers.org/clinvar/355500 ^@ NM_017651.4(AHI1):c.2765-9T>C http://identifiers.org/clinvar/359128 ^@ NM_000083.2(CLCN1):c.2901C>T (p.Ala967=) http://identifiers.org/clinvar/359378 ^@ NM_022458.3(LMBR1):c.*2667A>T http://identifiers.org/clinvar/359478 ^@ NM_058246.3(DNAJB6):c.*902C>T http://identifiers.org/clinvar/359578 ^@ NM_001101426.3(ISPD):c.*239G>A http://identifiers.org/clinvar/359828 ^@ NM_004403.2(DFNA5):c.*346G>C http://identifiers.org/clinvar/359978 ^@ NM_006735.3(HOXA2):c.*30A>G http://identifiers.org/clinvar/352460 ^@ NM_005546.3(ITK):c.287G>C (p.Arg96Pro) http://identifiers.org/clinvar/360178 ^@ NM_000168.5(GLI3):c.*2071C>T http://identifiers.org/clinvar/360228 ^@ NM_000168.5(GLI3):c.3631G>A (p.Gly1211Arg) http://identifiers.org/clinvar/352560 ^@ NM_002187.2(IL12B):c.*883C>A http://identifiers.org/clinvar/352660 ^@ NM_000816.3(GABRG2):c.*1392A>T http://identifiers.org/clinvar/352760 ^@ NM_001017995.2(SH3PXD2B):c.*2438A>G http://identifiers.org/clinvar/352910 ^@ NM_022455.4(NSD1):c.*1606G>T http://identifiers.org/clinvar/353110 ^@ NM_014244.4(ADAMTS2):c.2172G>C (p.Val724=) http://identifiers.org/clinvar/357289 ^@ NM_003221.3(TFAP2B):c.*135_*136delTT http://identifiers.org/clinvar/352960 ^@ NM_003052.4(SLC34A1):c.398C>T (p.Ala133Val) http://identifiers.org/clinvar/353160 ^@ NM_003900.4(SQSTM1):c.612A>G (p.Gly204=) http://identifiers.org/clinvar/357339 ^@ NM_003221.3(TFAP2B):c.*3079C>T http://identifiers.org/clinvar/360828 ^@ NM_005751.4(AKAP9):c.4537_4539delGAA (p.Glu1513del) http://identifiers.org/clinvar/353360 ^@ NM_133433.3(NIPBL):c.-428G>C http://identifiers.org/clinvar/353210 ^@ NM_016180.4(SLC45A2):c.*29C>G http://identifiers.org/clinvar/357639 ^@ NM_183227.2(RAB23):c.714A>G (p.Ter238=) http://identifiers.org/clinvar/357689 ^@ NM_001142800.1(EYS):c.7737T>C (p.Thr2579=) http://identifiers.org/clinvar/357739 ^@ NM_001142800.1(EYS):c.1899A>G (p.Gln633=) http://identifiers.org/clinvar/358039 ^@ NM_004999.3(MYO6):c.*3230T>C http://identifiers.org/clinvar/358089 ^@ NM_181714.3(LCA5):c.2006G>T (p.Arg669Met) http://identifiers.org/clinvar/361827 ^@ NM_004519.3(KCNQ3):c.*3280G>C http://identifiers.org/clinvar/300469 ^@ NM_022124.5(CDH23):c.8979+13C>T http://identifiers.org/clinvar/307223 ^@ NM_002834.4(PTPN11):c.-139G>A http://identifiers.org/clinvar/300569 ^@ NM_004273.4(CHST3):c.*203A>G http://identifiers.org/clinvar/307323 ^@ NM_000192.3(TBX5):c.-664G>A http://identifiers.org/clinvar/307373 ^@ NM_005996.3(TBX3):c.700A>G (p.Ile234Val) http://identifiers.org/clinvar/307423 ^@ NM_014365.2(HSPB8):c.*581G>A http://identifiers.org/clinvar/300719 ^@ NM_016065.3(MRPS16):c.247C>A (p.Leu83Ile) http://identifiers.org/clinvar/307573 ^@ NM_012463.3(ATP6V0A2):c.-222C>G http://identifiers.org/clinvar/300769 ^@ NM_002658.4(PLAU):c.*355C>T http://identifiers.org/clinvar/307673 ^@ NM_004064.4(CDKN1B):c.*96C>G http://identifiers.org/clinvar/300819 ^@ NM_014000.2(VCL):c.*1708A>G http://identifiers.org/clinvar/364926 ^@ NM_001174146.1(LMX1B):c.*1389_*1408del20insGTTTT http://identifiers.org/clinvar/307823 ^@ NM_172364.4(CACNA2D4):c.*463G>A http://identifiers.org/clinvar/364976 ^@ NM_002316.3(LMX1B):c.*3716C>G http://identifiers.org/clinvar/307873 ^@ NM_172364.4(CACNA2D4):c.139G>A (p.Val47Met) http://identifiers.org/clinvar/301219 ^@ NM_033100.3(CDHR1):c.547G>A (p.Val183Met) http://identifiers.org/clinvar/365376 ^@ NM_015046.5(SETX):c.472T>G (p.Leu158Val) http://identifiers.org/clinvar/365076 ^@ NM_000118.3(ENG):c.*758A>G http://identifiers.org/clinvar/301319 ^@ NM_001012720.1(RGR):c.460G>A (p.Asp154Asn) http://identifiers.org/clinvar/301419 ^@ NM_000314.6(PTEN):c.-152A>G http://identifiers.org/clinvar/301469 ^@ NM_000314.6(PTEN):c.*1591A>G http://identifiers.org/clinvar/365676 ^@ NM_000787.3(DBH):c.1835T>C (p.Ile612Thr) http://identifiers.org/clinvar/365276 ^@ NM_007171.3(POMT1):c.717G>C (p.Gln239His) http://identifiers.org/clinvar/365326 ^@ NM_015046.5(SETX):c.*717T>C http://identifiers.org/clinvar/365776 ^@ NM_000093.4(COL5A1):c.*1653dupG http://identifiers.org/clinvar/365476 ^@ NM_000368.4(TSC1):c.*1507G>A http://identifiers.org/clinvar/298330 ^@ NM_000195.4(HPS1):c.*403G>A http://identifiers.org/clinvar/365626 ^@ NM_014694.3(ADAMTSL2):c.*609C>T http://identifiers.org/clinvar/298430 ^@ NM_004376.6(COX15):c.-398C>A http://identifiers.org/clinvar/365726 ^@ NM_000093.4(COL5A1):c.4192G>A (p.Ala1398Thr) http://identifiers.org/clinvar/366127 ^@ NM_144966.5(FREM1):c.3872C>G (p.Thr1291Ser) http://identifiers.org/clinvar/309612 ^@ NM_000423.2(KRT2):c.864C>T (p.Asp288=) http://identifiers.org/clinvar/366227 ^@ NM_203447.3(DOCK8):c.34T>G (p.Phe12Val) http://identifiers.org/clinvar/365876 ^@ NM_019892.5(INPP5E):c.*235A>G http://identifiers.org/clinvar/366277 ^@ NM_002451.3(MTAP):c.*1341C>T http://identifiers.org/clinvar/365927 ^@ NM_006412.3(AGPAT2):c.453A>G (p.Thr151=) http://identifiers.org/clinvar/309912 ^@ NM_005379.3(MYO1A):c.1558A>T (p.Ile520Phe) http://identifiers.org/clinvar/366027 ^@ NM_024757.4(EHMT1):c.3214A>G (p.Asn1072Asp) http://identifiers.org/clinvar/310162 ^@ NM_001038.5(SCNN1A):c.-186C>T http://identifiers.org/clinvar/310312 ^@ NM_021150.3(GRIP1):c.553G>A (p.Val185Ile) http://identifiers.org/clinvar/366727 ^@ NM_007126.3(VCP):c.-370G>A http://identifiers.org/clinvar/310767 ^@ NM_003276.2(TMPO):c.1235T>C (p.Ile412Thr) http://identifiers.org/clinvar/310917 ^@ NM_000123.3(ERCC5):c.739A>G (p.Ile247Val) http://identifiers.org/clinvar/312656 ^@ NM_001376.4(DYNC1H1):c.12514-9C>A http://identifiers.org/clinvar/340655 ^@ NM_014339.6(IL17RA):c.*2344C>T http://identifiers.org/clinvar/322130 ^@ NM_016239.3(MYO15A):c.3591G>A (p.Pro1197=) http://identifiers.org/clinvar/340705 ^@ NM_014339.6(IL17RA):c.*4062T>A http://identifiers.org/clinvar/340855 ^@ NM_004782.3(SNAP29):c.*614C>G http://identifiers.org/clinvar/322580 ^@ NM_000267.3(NF1):c.*506T>A http://identifiers.org/clinvar/322630 ^@ NM_002878.3(RAD51D):c.-239C>T http://identifiers.org/clinvar/322780 ^@ NM_145068.3(TRPV3):c.1050G>A (p.Lys350=) http://identifiers.org/clinvar/341544 ^@ NM_013416.3(NCF4):c.-95C>T http://identifiers.org/clinvar/341694 ^@ NM_022098.3(XPNPEP3):c.*1246G>A http://identifiers.org/clinvar/322980 ^@ NM_001004334.3(GPR179):c.5119T>C (p.Trp1707Arg) http://identifiers.org/clinvar/323030 ^@ NM_001004334.3(GPR179):c.810G>A (p.Met270Ile) http://identifiers.org/clinvar/341944 ^@ NM_025225.2(PNPLA3):c.1340G>A (p.Arg447Gln) http://identifiers.org/clinvar/323180 ^@ NM_021939.3(FKBP10):c.-177C>G http://identifiers.org/clinvar/341994 ^@ NM_018006.4(TRMU):c.-178G>A http://identifiers.org/clinvar/342044 ^@ NM_024105.3(ALG12):c.1152C>G (p.Pro384=) http://identifiers.org/clinvar/323430 ^@ NM_025237.2(SOST):c.*1266_*1267insG http://identifiers.org/clinvar/342194 ^@ NM_000487.5(ARSA):c.*1627G>C http://identifiers.org/clinvar/342244 ^@ NM_000487.5(ARSA):c.-136C>G http://identifiers.org/clinvar/367745 ^@ NM_002294.2(LAMP2):c.*3689T>C http://identifiers.org/clinvar/367845 ^@ NM_001167.3(XIAP):c.*5069A>T http://identifiers.org/clinvar/323730 ^@ NM_001193466.1(KANSL1):c.*1551delA http://identifiers.org/clinvar/323830 ^@ NM_004287.4(GOSR2):c.*301T>C http://identifiers.org/clinvar/368095 ^@ NM_001042351.2(G6PD):c.*365G>A http://identifiers.org/clinvar/368195 ^@ NM_014271.3(IL1RAPL1):c.1191G>A (p.Glu397=) http://identifiers.org/clinvar/316655 ^@ NM_000236.2(LIPC):c.264C>T (p.His88=) http://identifiers.org/clinvar/368645 ^@ NM_002637.3(PHKA1):c.3435C>T (p.Ile1145=) http://identifiers.org/clinvar/324728 ^@ NM_031220.3(PITPNM3):c.*924G>A http://identifiers.org/clinvar/324778 ^@ NM_002734.4(PRKAR1A):c.-25C>T http://identifiers.org/clinvar/324828 ^@ NM_000891.2(KCNJ2):c.-88C>T http://identifiers.org/clinvar/324878 ^@ NM_000891.2(KCNJ2):c.*2698T>C http://identifiers.org/clinvar/325078 ^@ NM_000747.2(CHRNB1):c.531G>A (p.Ser177=) http://identifiers.org/clinvar/325178 ^@ NM_001005731.2(ITGB4):c.3317A>G (p.Asp1106Gly) http://identifiers.org/clinvar/317595 ^@ NM_000875.4(IGF1R):c.*4861C>T http://identifiers.org/clinvar/325428 ^@ NM_024599.5(RHBDF2):c.1896+11G>T http://identifiers.org/clinvar/317745 ^@ NM_000246.3(CIITA):c.*709G>T http://identifiers.org/clinvar/372000 ^@ NM_006231.3(POLE):c.4952+13C>T http://identifiers.org/clinvar/372050 ^@ NM_006231.3(POLE):c.1473+19G>A http://identifiers.org/clinvar/371900 ^@ NM_002878.3(RAD51D):c.263+1509C>T http://identifiers.org/clinvar/372100 ^@ NM_032043.2(BRIP1):c.2576-17T>G http://identifiers.org/clinvar/372162 ^@ NM_003412.3(ZIC1):c.1165C>T (p.Gln389Ter) http://identifiers.org/clinvar/372229 ^@ NM_207421.4(PADI6):c.2009_2010delAG (p.Glu670Glyfs) http://identifiers.org/clinvar/372283 ^@ NM_001010874.4(TECRL):c.331+1G>A http://identifiers.org/clinvar/373345 ^@ NM_018328.4(MBD5):c.3857G>A (p.Arg1286Lys) http://identifiers.org/clinvar/373745 ^@ NM_003036.3(SKI):c.1480T>A (p.Ser494Thr) http://identifiers.org/clinvar/372995 ^@ NM_004369.3(COL6A3):c.3809G>A (p.Arg1270Gln) http://identifiers.org/clinvar/373245 ^@ NM_006514.3(SCN10A):c.4825A>G (p.Asn1609Asp) http://identifiers.org/clinvar/373545 ^@ NM_001615.3(ACTG2):c.126+5G>A http://identifiers.org/clinvar/372336 ^@ NM_000094.3(COL7A1):c.4919delG (p.Gly1640Valfs) http://identifiers.org/clinvar/373395 ^@ NM_003998.3(NFKB1):c.794G>A (p.Gly265Glu) http://identifiers.org/clinvar/373795 ^@ NM_016203.3(PRKAG2):c.389C>A (p.Ser130Tyr) http://identifiers.org/clinvar/373295 ^@ NM_014629.3(ARHGEF10):c.2045C>T (p.Ala682Val) http://identifiers.org/clinvar/372945 ^@ NM_133433.3(NIPBL):c.6108+5G>A http://identifiers.org/clinvar/373045 ^@ NM_003165.3(STXBP1):c.148dupA (p.Ile50Asnfs) http://identifiers.org/clinvar/373445 ^@ NM_015335.4(MED13L):c.1992dupA (p.Glu665Argfs) http://identifiers.org/clinvar/373495 ^@ NM_000548.4(TSC2):c.3212_3213delCA (p.Thr1071Lysfs) http://identifiers.org/clinvar/373145 ^@ NM_001070.4(TUBG1):c.1021C>T (p.Arg341Trp) http://identifiers.org/clinvar/373645 ^@ NM_001037.4(SCN1B):c.-1C>T http://identifiers.org/clinvar/373695 ^@ NM_016373.3(WWOX):c.517-19T>C http://identifiers.org/clinvar/373595 ^@ NM_003573.2(LTBP4):c.3967G>A (p.Val1323Met) http://identifiers.org/clinvar/373095 ^@ NM_000022.3(ADA):c.508A>G (p.Lys170Glu) http://identifiers.org/clinvar/373195 ^@ NM_001853.3(COL9A3):c.369+1G>A http://identifiers.org/clinvar/373845 ^@ NG_005905.2:g.169527_180579del11053 http://identifiers.org/clinvar/374098 ^@ NM_003742.2(ABCB11):c.3148C>T (p.Arg1050Cys) http://identifiers.org/clinvar/374198 ^@ NM_000297.3(PKD2):c.815_816delCT (p.Leu273Valfs) http://identifiers.org/clinvar/373998 ^@ NM_182961.3(SYNE1):c.19958G>C (p.Ser6653Thr) http://identifiers.org/clinvar/374048 ^@ NM_058246.3(DNAJB6):c.179A>G (p.Lys60Arg) http://identifiers.org/clinvar/374148 ^@ NM_001613.2(ACTA2):c.1003C>G (p.Pro335Ala) http://identifiers.org/clinvar/373898 ^@ NM_001173454.1(PDHA1):c.179G>C (p.Arg60Thr) http://identifiers.org/clinvar/373948 ^@ NM_000266.3(NDP):c.268C>T (p.Arg90Cys) http://identifiers.org/clinvar/374252 ^@ NM_001429.3(EP300):c.2161dupG (p.Ala721Glyfs) http://identifiers.org/clinvar/374387 ^@ NM_020699.3(GATAD2B):c.694C>T (p.Gln232Ter) http://identifiers.org/clinvar/374322 ^@ NM_001173455.1(PDHA1):c.448G>A (p.Gly150Arg) http://identifiers.org/clinvar/386496 ^@ NM_001256850.1(TTN):c.2226C>A (p.Ser742=) http://identifiers.org/clinvar/383806 ^@ NM_000251.2(MSH2):c.1387-18A>C http://identifiers.org/clinvar/383756 ^@ NM_015120.4(ALMS1):c.3897A>G (p.Gln1299=) http://identifiers.org/clinvar/378161 ^@ NM_000179.2(MSH6):c.267C>T (p.Asp89=) http://identifiers.org/clinvar/383956 ^@ NM_000179.2(MSH6):c.2958C>A (p.Thr986=) http://identifiers.org/clinvar/383555 ^@ NM_000179.2(MSH6):c.3556+3G>T http://identifiers.org/clinvar/378466 ^@ NM_002880.3(RAF1):c.1537-11G>A http://identifiers.org/clinvar/390374 ^@ NM_153240.4(NPHP3):c.1629-17C>A http://identifiers.org/clinvar/379308 ^@ NM_000094.3(COL7A1):c.4928G>A (p.Gly1643Asp) http://identifiers.org/clinvar/378311 ^@ NM_015560.2(OPA1):c.784-11A>C http://identifiers.org/clinvar/382954 ^@ NM_133259.3(LRPPRC):c.1421A>G (p.Gln474Arg) http://identifiers.org/clinvar/382303 ^@ NM_001199251.2(SGO1):c.512T>C (p.Val171Ala) http://identifiers.org/clinvar/382654 ^@ NM_000179.2(MSH6):c.3054C>A (p.Leu1018=) http://identifiers.org/clinvar/389285 ^@ NM_000179.2(MSH6):c.3483T>G (p.Pro1161=) http://identifiers.org/clinvar/379859 ^@ NM_000406.2(GNRHR):c.633T>A (p.Tyr211Ter) http://identifiers.org/clinvar/389085 ^@ NM_000038.5(APC):c.1549-17C>T http://identifiers.org/clinvar/379808 ^@ NM_001148.4(ANK2):c.2819C>G (p.Ala940Gly) http://identifiers.org/clinvar/391274 ^@ NM_018699.3(PRDM5):c.1851C>T (p.Leu617=) http://identifiers.org/clinvar/383705 ^@ NM_000816.3(GABRG2):c.259+19C>T http://identifiers.org/clinvar/385296 ^@ NM_000038.5(APC):c.4386G>A (p.Lys1462=) http://identifiers.org/clinvar/379608 ^@ NM_003722.4(TP63):c.935G>A (p.Cys312Tyr) http://identifiers.org/clinvar/386146 ^@ NM_000249.3(MLH1):c.790+18A>T http://identifiers.org/clinvar/379358 ^@ NM_002397.4(MEF2C):c.100G>T (p.Glu34Ter) http://identifiers.org/clinvar/386346 ^@ NM_001457.3(FLNB):c.1101A>G (p.Val367=) http://identifiers.org/clinvar/386246 ^@ NM_005045.3(RELN):c.5088T>C (p.Leu1696=) http://identifiers.org/clinvar/385646 ^@ NM_033337.2(CAV3):c.114+20C>T http://identifiers.org/clinvar/388935 ^@ NM_017651.4(AHI1):c.3503A>G (p.Glu1168Gly) http://identifiers.org/clinvar/380159 ^@ NM_001167734.1(VARS2):c.2276-10T>C http://identifiers.org/clinvar/386396 ^@ NM_012470.3(TNPO3):c.738G>A (p.Ser246=) http://identifiers.org/clinvar/377959 ^@ NM_000238.3(KCNH2):c.2808C>T (p.Ser936=) http://identifiers.org/clinvar/390724 ^@ NM_001851.4(COL9A1):c.-50A>G http://identifiers.org/clinvar/379708 ^@ NM_004415.3(DSP):c.2023A>G (p.Ile675Val) http://identifiers.org/clinvar/380510 ^@ NM_012160.4(FBXL4):c.978A>G (p.Gln326=) http://identifiers.org/clinvar/382904 ^@ NM_002291.2(LAMB1):c.1370-18C>T http://identifiers.org/clinvar/384056 ^@ NM_000535.6(PMS2):c.1350A>G (p.Lys450=) http://identifiers.org/clinvar/379158 ^@ NM_000535.6(PMS2):c.537+17C>T http://identifiers.org/clinvar/377809 ^@ NM_004415.3(DSP):c.2436+16A>G http://identifiers.org/clinvar/377709 ^@ NM_014141.5(CNTNAP2):c.2136C>T (p.Asn712=) http://identifiers.org/clinvar/379658 ^@ NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) http://identifiers.org/clinvar/385696 ^@ NM_000445.4(PLEC):c.8007G>A (p.Pro2669=) http://identifiers.org/clinvar/389135 ^@ NM_012470.3(TNPO3):c.2061+18G>A http://identifiers.org/clinvar/383104 ^@ NM_017780.3(CHD7):c.1179A>T (p.Pro393=) http://identifiers.org/clinvar/382002 ^@ NM_000535.6(PMS2):c.1095T>C (p.Ser365=) http://identifiers.org/clinvar/385446 ^@ NM_000290.3(PGAM2):c.415-17G>A http://identifiers.org/clinvar/389974 ^@ NM_023073.3(C5orf42):c.1465G>T (p.Val489Phe) http://identifiers.org/clinvar/388535 ^@ NM_000742.3(CHRNA2):c.609C>T (p.Ser203=) http://identifiers.org/clinvar/388485 ^@ NM_002290.4(LAMA4):c.85G>A (p.Asp29Asn) http://identifiers.org/clinvar/380359 ^@ NM_000445.4(PLEC):c.10010C>T (p.Ala3337Val) http://identifiers.org/clinvar/379959 ^@ NM_001916.4(CYC1):c.99T>G (p.Arg33=) http://identifiers.org/clinvar/391324 ^@ NM_003165.3(STXBP1):c.174G>T (p.Val58=) http://identifiers.org/clinvar/385496 ^@ NM_139025.4(ADAMTS13):c.3722T>C (p.Met1241Thr) http://identifiers.org/clinvar/384406 ^@ NM_004408.3(DNM1):c.-17C>A http://identifiers.org/clinvar/133038 ^@ NM_000540.2(RYR1):c.12413T>C (p.Ile4138Thr) http://identifiers.org/clinvar/133088 ^@ NM_000540.2(RYR1):c.14680G>C (p.Ala4894Pro) http://identifiers.org/clinvar/133138 ^@ NM_000540.2(RYR1):c.4934G>A (p.Arg1645Gln) http://identifiers.org/clinvar/133188 ^@ NM_000540.2(RYR1):c.7102C>T (p.Leu2368=) http://identifiers.org/clinvar/133238 ^@ NM_000540.2(RYR1):c.9173-21C>T http://identifiers.org/clinvar/133317 ^@ NM_001199917.1(PGM3):c.1438_1442delCTTAA (p.Leu480Serfs) http://identifiers.org/clinvar/133380 ^@ NM_014159.6(SETD2):c.4839+332G>T http://identifiers.org/clinvar/133430 ^@ NM_000548.4(TSC2):c.336+385C>G http://identifiers.org/clinvar/133480 ^@ NM_004304.4(ALK):c.932G>A (p.Arg311His) http://identifiers.org/clinvar/133531 ^@ NM_000038.5(APC):c.4919G>A (p.Arg1640Gln) http://identifiers.org/clinvar/133581 ^@ NM_015338.5(ASXL1):c.3761A>G (p.Asn1254Ser) http://identifiers.org/clinvar/133631 ^@ NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) http://identifiers.org/clinvar/133681 ^@ NM_001123383.1(BCOR):c.1016C>T (p.Pro339Leu) http://identifiers.org/clinvar/133732 ^@ NM_000059.3(BRCA2):c.6112C>T (p.His2038Tyr) http://identifiers.org/clinvar/133785 ^@ NM_032415.5(CARD11):c.1630A>C (p.Ile544Leu) http://identifiers.org/clinvar/135470 ^@ NM_004628.4(XPC):c.2404G>A (p.Gly802Ser) http://identifiers.org/clinvar/135520 ^@ NM_001005862.2(ERBB2):c.931+19C>T http://identifiers.org/clinvar/135571 ^@ NM_006164.4(NFE2L2):c.402+13A>G http://identifiers.org/clinvar/135646 ^@ NC_000006.10:g.(164665044_164690316)_(170688258_170899992)del http://identifiers.org/clinvar/135705 ^@ NM_000038.5(APC):c.5009C>T (p.Ala1670Val) http://identifiers.org/clinvar/135757 ^@ NM_000051.3(ATM):c.4871A>G (p.His1624Arg) http://identifiers.org/clinvar/135815 ^@ NM_000059.3(BRCA2):c.7559G>C (p.Arg2520Pro) http://identifiers.org/clinvar/135865 ^@ NM_000251.2(MSH2):c.835C>G (p.Leu279Val) http://identifiers.org/clinvar/135915 ^@ NM_000455.4(STK11):c.1185A>G (p.Thr395=) http://identifiers.org/clinvar/135966 ^@ NM_001127500.2(MET):c.3272C>T (p.Pro1091Leu) http://identifiers.org/clinvar/136017 ^@ NM_002354.2(EPCAM):c.159A>C (p.Ala53=) http://identifiers.org/clinvar/136067 ^@ NM_004360.4(CDH1):c.2589C>T (p.Asn863=) http://identifiers.org/clinvar/136118 ^@ NM_020975.4(RET):c.3243T>C (p.Asp1081=) http://identifiers.org/clinvar/136168 ^@ NM_130799.2(MEN1):c.1656T>C (p.Thr552=) http://identifiers.org/clinvar/136229 ^@ NM_020745.3(AARS2):c.1398C>T (p.Ser466=) http://identifiers.org/clinvar/136280 ^@ NM_005159.4(ACTC1):c.270C>T (p.His90=) http://identifiers.org/clinvar/136330 ^@ NM_005751.4(AKAP9):c.4841G>A (p.Arg1614Gln) http://identifiers.org/clinvar/136381 ^@ NM_001148.4(ANK2):c.261G>A (p.Gly87=) http://identifiers.org/clinvar/186672 ^@ NM_001042492.2(NF1):c.7003A>G (p.Thr2335Ala) http://identifiers.org/clinvar/186420 ^@ NM_007294.3(BRCA1):c.316A>C (p.Asn106His) http://identifiers.org/clinvar/185920 ^@ NM_058216.2(RAD51C):c.216_220delACCAA (p.Pro73Ilefs) http://identifiers.org/clinvar/186270 ^@ NM_032043.2(BRIP1):c.1831G>A (p.Val611Ile) http://identifiers.org/clinvar/186622 ^@ NM_032043.2(BRIP1):c.1176A>G (p.Leu392=) http://identifiers.org/clinvar/185970 ^@ NM_000455.4(STK11):c.1044C>T (p.Asp348=) http://identifiers.org/clinvar/184031 ^@ NM_000455.4(STK11):c.1284G>A (p.Ser428=) http://identifiers.org/clinvar/183930 ^@ NM_007194.3(CHEK2):c.1287G>A (p.Glu429=) http://identifiers.org/clinvar/186170 ^@ NM_007194.3(CHEK2):c.910A>G (p.Met304Val) http://identifiers.org/clinvar/190185 ^@ NM_001110556.1(FLNA):c.1850C>T (p.Ser617Leu) http://identifiers.org/clinvar/190236 ^@ NM_005360.4(MAF):c.908A>C (p.Gln303Pro) http://identifiers.org/clinvar/190317 ^@ NM_153816.5(SNX14):c.1894+1G>T http://identifiers.org/clinvar/190369 ^@ NP_002046.1:p.Phe261_Thr302del http://identifiers.org/clinvar/226609 ^@ NM_012144.3(DNAI1):c.639G>A (p.Thr213=) http://identifiers.org/clinvar/229181 ^@ NM_001134363.2(RBM20):c.1013T>C (p.Met338Thr) http://identifiers.org/clinvar/227892 ^@ NM_001134363.2(RBM20):c.1812G>A (p.Lys604=) http://identifiers.org/clinvar/228981 ^@ NM_017433.4(MYO3A):c.2705A>C (p.Asn902Thr) http://identifiers.org/clinvar/229131 ^@ NM_001142771.1(PCDH15):c.4931_4934dupTTGA (p.Ser1646Terfs) http://identifiers.org/clinvar/227841 ^@ NM_033056.3(PCDH15):c.4837G>A (p.Gly1613Arg) http://identifiers.org/clinvar/227009 ^@ NM_033056.3(PCDH15):c.4812G>T (p.Arg1604Ser) http://identifiers.org/clinvar/229631 ^@ NM_014000.2(VCL):c.163G>T (p.Val55Phe) http://identifiers.org/clinvar/227791 ^@ NM_001277269.1(OTOG):c.675G>T (p.Glu225Asp) http://identifiers.org/clinvar/226859 ^@ NM_001277269.1(OTOG):c.1095C>T (p.Val365=) http://identifiers.org/clinvar/226909 ^@ NM_001277269.1(OTOG):c.7516+11A>T http://identifiers.org/clinvar/227160 ^@ NM_005691.3(ABCC9):c.3474-14C>T http://identifiers.org/clinvar/226959 ^@ NM_173591.3(OTOGL):c.5590C>A (p.Pro1864Thr) http://identifiers.org/clinvar/227591 ^@ NM_002471.3(MYH6):c.4125C>G (p.Thr1375=) http://identifiers.org/clinvar/229281 ^@ NM_153700.2(STRC):c.890A>G (p.Asn297Ser) http://identifiers.org/clinvar/227060 ^@ NM_000336.2(SCNN1B):c.777-5T>C http://identifiers.org/clinvar/227641 ^@ NM_016239.3(MYO15A):c.5301G>A (p.Ala1767=) http://identifiers.org/clinvar/227741 ^@ NM_001042492.2(NF1):c.4577+11C>G http://identifiers.org/clinvar/226809 ^@ NM_003803.3(MYOM1):c.2110G>A (p.Glu704Lys) http://identifiers.org/clinvar/227691 ^@ NM_003803.3(MYOM1):c.1901-14T>C http://identifiers.org/clinvar/228631 ^@ NM_001943.4(DSG2):c.2270T>C (p.Met757Thr) http://identifiers.org/clinvar/228831 ^@ NM_144612.6(LOXHD1):c.5201A>G (p.Lys1734Arg) http://identifiers.org/clinvar/226709 ^@ NM_000527.4(LDLR):c.1060+10G>C http://identifiers.org/clinvar/226509 ^@ NM_001039213.3(CEACAM16):c.539C>T (p.Ser180Phe) http://identifiers.org/clinvar/228881 ^@ NM_001145809.1(MYH14):c.5369G>A (p.Arg1790His) http://identifiers.org/clinvar/229331 ^@ NM_000363.4(TNNI3):c.233C>T (p.Thr78Ile) http://identifiers.org/clinvar/226659 ^@ NM_022081.5(HPS4):c.696G>A (p.Pro232=) http://identifiers.org/clinvar/228931 ^@ NM_002473.5(MYH9):c.928A>G (p.Ile310Val) http://identifiers.org/clinvar/228581 ^@ NM_004006.2(DMD):c.1693A>T (p.Thr565Ser) http://identifiers.org/clinvar/228781 ^@ NM_002290.4(LAMA4):c.398C>G (p.Pro133Arg) http://identifiers.org/clinvar/229381 ^@ NM_144991.2(TSPEAR):c.791-14G>C http://identifiers.org/clinvar/234447 ^@ NM_000179.2(MSH6):c.4002-8A>T http://identifiers.org/clinvar/234379 ^@ NM_000431.3(MVK):c.643C>T (p.Arg215Ter) http://identifiers.org/clinvar/234272 ^@ NM_004655.3(AXIN2):c.1419_1421dupCCA (p.His474_Ser475insHis) http://identifiers.org/clinvar/234498 ^@ NM_014646.2(LPIN2):c.1781C>T (p.Pro594Leu) http://identifiers.org/clinvar/234327 ^@ NM_014646.2(LPIN2):c.132_135dupGTGT (p.Ser46Valfs) http://identifiers.org/clinvar/233965 ^@ NM_000465.3(BARD1):c.592delG (p.Ala198Leufs) http://identifiers.org/clinvar/231822 ^@ NM_000465.3(BARD1):c.101G>C (p.Trp34Ser) http://identifiers.org/clinvar/232572 ^@ NM_000251.2(MSH2):c.1250T>G (p.Val417Gly) http://identifiers.org/clinvar/234065 ^@ NM_000251.2(MSH2):c.1539G>A (p.Leu513=) http://identifiers.org/clinvar/232372 ^@ NM_000251.2(MSH2):c.1866A>C (p.Pro622=) http://identifiers.org/clinvar/232472 ^@ NM_000179.2(MSH6):c.545C>T (p.Ala182Val) http://identifiers.org/clinvar/233814 ^@ NM_000179.2(MSH6):c.1539C>T (p.Ile513=) http://identifiers.org/clinvar/229783 ^@ NM_000038.5(APC):c.839C>T (p.Ser280Leu) http://identifiers.org/clinvar/264414 ^@ NM_002474.2(MYH11):c.5595C>T (p.Ala1865=) http://identifiers.org/clinvar/263506 ^@ NM_003098.2(SNTA1):c.312C>T (p.Gly104=) http://identifiers.org/clinvar/263405 ^@ NM_002294.2(LAMP2):c.1091C>T (p.Thr364Ile) http://identifiers.org/clinvar/264464 ^@ NM_004006.2(DMD):c.8212T>C (p.Trp2738Arg) http://identifiers.org/clinvar/264364 ^@ NM_004006.2(DMD):c.2222T>C (p.Val741Ala) http://identifiers.org/clinvar/264729 ^@ NM_001242896.1(DEPDC5):c.1114C>T (p.Gln372Ter) http://identifiers.org/clinvar/264884 ^@ NM_000059.3(BRCA2):c.67+719T>A http://identifiers.org/clinvar/264934 ^@ NM_000059.3(BRCA2):c.8331+2852T>C http://identifiers.org/clinvar/264984 ^@ NM_000059.3(BRCA2):c.8754+816del http://identifiers.org/clinvar/264834 ^@ NM_007294.3(BRCA1):c.5467+885dup http://identifiers.org/clinvar/264784 ^@ NM_007294.3(BRCA1):c.4675+1392T>A http://identifiers.org/clinvar/265036 ^@ NM_033087.3(ALG2):c.1132C>T (p.Arg378Cys) http://identifiers.org/clinvar/266605 ^@ NM_000059.3(BRCA2):c.1058C>A (p.Ser353Ter) http://identifiers.org/clinvar/266155 ^@ NM_007294.3(BRCA1):c.1303_1309delGATCCTCinsAAAGT (p.Asp435Lysfs) http://identifiers.org/clinvar/290984 ^@ NM_024649.4(BBS1):c.48-9C>A http://identifiers.org/clinvar/291034 ^@ NM_013227.3(ACAN):c.6695C>T (p.Thr2232Met) http://identifiers.org/clinvar/291084 ^@ NM_006059.3(LAMC3):c.-2C>T http://identifiers.org/clinvar/291134 ^@ NM_005477.2(HCN4):c.3010C>T (p.Pro1004Ser) http://identifiers.org/clinvar/291185 ^@ NM_002977.3(SCN9A):c.1464C>T (p.Leu488=) http://identifiers.org/clinvar/291235 ^@ NM_002310.5(LIFR):c.2280G>A (p.Leu760=) http://identifiers.org/clinvar/291285 ^@ NM_000492.3(CFTR):c.1210-32T>G http://identifiers.org/clinvar/291450 ^@ NM_001918.3(DBT):c.*347C>T http://identifiers.org/clinvar/291400 ^@ NM_001918.3(DBT):c.*5838G>A http://identifiers.org/clinvar/291500 ^@ NM_001854.3(COL11A1):c.4495C>T (p.Pro1499Ser) http://identifiers.org/clinvar/291550 ^@ NM_001854.3(COL11A1):c.130G>A (p.Ala44Thr) http://identifiers.org/clinvar/291600 ^@ NM_015074.3(KIF1B):c.*744C>A http://identifiers.org/clinvar/291613 ^@ NM_015074.3(KIF1B):c.*1997T>C http://identifiers.org/clinvar/291663 ^@ NM_015074.3(KIF1B):c.*4392A>G http://identifiers.org/clinvar/291713 ^@ NM_013296.4(GPSM2):c.*322T>C http://identifiers.org/clinvar/292063 ^@ NM_138959.2(VANGL1):c.*3289A>G http://identifiers.org/clinvar/291763 ^@ NM_007375.3(TARDBP):c.*2294_*2295insGTTTT http://identifiers.org/clinvar/291913 ^@ NM_003051.3(SLC16A1):c.-163T>C http://identifiers.org/clinvar/292113 ^@ NM_138959.2(VANGL1):c.*6763dupC http://identifiers.org/clinvar/291963 ^@ NM_002524.4(NRAS):c.*1643G>C http://identifiers.org/clinvar/292013 ^@ NM_138959.2(VANGL1):c.1172G>T (p.Arg391Met) http://identifiers.org/clinvar/292163 ^@ NM_005957.4(MTHFR):c.*4084G>A http://identifiers.org/clinvar/292213 ^@ NM_005957.4(MTHFR):c.*934G>A http://identifiers.org/clinvar/293052 ^@ NM_003126.2(SPTA1):c.480C>G (p.Phe160Leu) http://identifiers.org/clinvar/293102 ^@ NM_002241.4(KCNJ10):c.*1764T>G http://identifiers.org/clinvar/293152 ^@ NM_000702.3(ATP1A2):c.*703G>A http://identifiers.org/clinvar/293402 ^@ NM_004431.4(EPHA2):c.*224G>T http://identifiers.org/clinvar/293002 ^@ NM_003126.2(SPTA1):c.3149C>T (p.Pro1050Leu) http://identifiers.org/clinvar/293202 ^@ NM_002857.3(PEX19):c.*1790A>G http://identifiers.org/clinvar/293252 ^@ NM_000309.3(PPOX):c.522C>T (p.Asn174=) http://identifiers.org/clinvar/293552 ^@ NM_000130.4(F5):c.*1170G>A http://identifiers.org/clinvar/293502 ^@ NM_005149.2(TBX19):c.*1235G>A http://identifiers.org/clinvar/293602 ^@ NM_000130.4(F5):c.3949G>A (p.Gly1317Ser) http://identifiers.org/clinvar/293802 ^@ NM_022089.3(ATP13A2):c.951C>T (p.Cys317=) http://identifiers.org/clinvar/293902 ^@ NM_002065.6(GLUL):c.*1913A>T http://identifiers.org/clinvar/293652 ^@ NM_152281.2(GORAB):c.349A>G (p.Thr117Ala) http://identifiers.org/clinvar/292952 ^@ NM_003126.2(SPTA1):c.6390C>T (p.Thr2130=) http://identifiers.org/clinvar/293852 ^@ NM_014625.3(NPHS2):c.-26G>T http://identifiers.org/clinvar/294052 ^@ NM_005562.2(LAMC2):c.*1324C>T http://identifiers.org/clinvar/294102 ^@ NM_031935.2(HMCN1):c.880G>A (p.Ala294Thr) http://identifiers.org/clinvar/293302 ^@ NM_000530.7(MPZ):c.*907_*910dupGAGA http://identifiers.org/clinvar/294202 ^@ NM_031935.2(HMCN1):c.8929G>A (p.Val2977Met) http://identifiers.org/clinvar/293352 ^@ NM_003001.3(SDHC):c.*1584C>G http://identifiers.org/clinvar/293452 ^@ NM_004431.4(EPHA2):c.-152T>C http://identifiers.org/clinvar/293702 ^@ NM_000261.1(MYOC):c.*426C>T http://identifiers.org/clinvar/293752 ^@ NM_000639.2(FASLG):c.*627_*632delGTGTGT http://identifiers.org/clinvar/336197 ^@ NM_000341.3(SLC3A1):c.1012G>C (p.Asp338His) http://identifiers.org/clinvar/336247 ^@ NM_001430.4(EPAS1):c.525G>A (p.Thr175=) http://identifiers.org/clinvar/343344 ^@ NM_014382.3(ATP2C1):c.*1204A>T http://identifiers.org/clinvar/344333 ^@ NM_003907.2(EIF2B5):c.465C>T (p.Val155=) http://identifiers.org/clinvar/344383 ^@ NM_003722.4(TP63):c.766+3A>G http://identifiers.org/clinvar/336404 ^@ NM_002354.2(EPCAM):c.-162T>A http://identifiers.org/clinvar/344533 ^@ NM_000461.4(THRB):c.*5684G>A http://identifiers.org/clinvar/344683 ^@ NM_003242.5(TGFBR2):c.*799A>G http://identifiers.org/clinvar/344783 ^@ NM_000404.3(GLB1):c.1735-5_1735-4dupTC http://identifiers.org/clinvar/344983 ^@ NM_001106.3(ACVR2B):c.*3895T>G http://identifiers.org/clinvar/345033 ^@ NM_001106.3(ACVR2B):c.*8561A>T http://identifiers.org/clinvar/336854 ^@ NM_002056.3(GFPT1):c.*1085A>G http://identifiers.org/clinvar/345233 ^@ NM_016006.4(ABHD5):c.*1009T>A http://identifiers.org/clinvar/345283 ^@ NM_016006.4(ABHD5):c.*3952T>C http://identifiers.org/clinvar/336754 ^@ NM_015910.5(WDPCP):c.*195G>A http://identifiers.org/clinvar/337004 ^@ NM_015120.4(ALMS1):c.-27_-25delCTC http://identifiers.org/clinvar/344483 ^@ NM_015560.2(OPA1):c.825C>T (p.Leu275=) http://identifiers.org/clinvar/337054 ^@ NM_212552.2(BOLA3):c.*190G>A http://identifiers.org/clinvar/336804 ^@ NM_002056.3(GFPT1):c.*4274A>T http://identifiers.org/clinvar/344583 ^@ NM_000461.4(THRB):c.*2912A>G http://identifiers.org/clinvar/344833 ^@ NM_006371.4(CRTAP):c.*1181A>T http://identifiers.org/clinvar/344933 ^@ NM_001106.3(ACVR2B):c.*501G>C http://identifiers.org/clinvar/345083 ^@ NM_198056.2(SCN5A):c.*1074C>G http://identifiers.org/clinvar/345183 ^@ NM_018075.4(ANO10):c.1416A>C (p.Ala472=) http://identifiers.org/clinvar/337554 ^@ NM_014014.4(SNRNP200):c.2268A>G (p.Ser756=) http://identifiers.org/clinvar/337454 ^@ NM_017849.3(TMEM127):c.*2845T>G http://identifiers.org/clinvar/346422 ^@ NM_198859.3(PRICKLE2):c.*4238C>T http://identifiers.org/clinvar/345383 ^@ NM_020208.3(SLC6A20):c.*917G>A http://identifiers.org/clinvar/342344 ^@ NM_016247.3(IMPG2):c.2531G>A (p.Arg844Gln) http://identifiers.org/clinvar/345533 ^@ NM_024513.3(FYCO1):c.868C>T (p.Arg290Cys) http://identifiers.org/clinvar/346722 ^@ NM_002942.4(ROBO2):c.*947C>T http://identifiers.org/clinvar/342394 ^@ NM_033084.4(FANCD2):c.*550C>T http://identifiers.org/clinvar/342544 ^@ NM_198196.2(CD96):c.1419A>G (p.Ala473=) http://identifiers.org/clinvar/346972 ^@ NM_000097.5(CPOX):c.*28delT http://identifiers.org/clinvar/342594 ^@ NM_000796.5(DRD3):c.1151C>A (p.Thr384Asn) http://identifiers.org/clinvar/347222 ^@ NM_001963.5(EGF):c.-127A>C http://identifiers.org/clinvar/347272 ^@ NM_001963.5(EGF):c.*479T>C http://identifiers.org/clinvar/342794 ^@ NM_000388.3(CASR):c.-111C>A http://identifiers.org/clinvar/342844 ^@ NM_053025.3(MYLK):c.*802C>T http://identifiers.org/clinvar/342744 ^@ NM_000187.3(HGD):c.765T>C (p.Ala255=) http://identifiers.org/clinvar/346472 ^@ NM_198859.3(PRICKLE2):c.1675G>A (p.Gly559Ser) http://identifiers.org/clinvar/343294 ^@ NM_000539.3(RHO):c.*467A>G http://identifiers.org/clinvar/348022 ^@ NM_001166108.1(PALLD):c.-139G>T http://identifiers.org/clinvar/348072 ^@ NM_001166108.1(PALLD):c.*2156delA http://identifiers.org/clinvar/348122 ^@ NM_012224.2(NEK1):c.642G>A (p.Lys214=) http://identifiers.org/clinvar/346772 ^@ NM_002942.4(ROBO2):c.*3873C>T http://identifiers.org/clinvar/346872 ^@ NM_000313.3(PROS1):c.*422G>T http://identifiers.org/clinvar/353610 ^@ NM_002310.5(LIFR):c.2766T>C (p.Asp922=) http://identifiers.org/clinvar/353660 ^@ NM_000436.3(OXCT1):c.1080T>C (p.Asp360=) http://identifiers.org/clinvar/362077 ^@ NM_031466.7(TRAPPC9):c.2769G>A (p.Arg923=) http://identifiers.org/clinvar/362177 ^@ NM_000498.3(CYP11B2):c.*746G>A http://identifiers.org/clinvar/358439 ^@ NM_006348.3(COG5):c.*997_*998insTT http://identifiers.org/clinvar/354299 ^@ NM_000046.3(ARSB):c.*608G>A http://identifiers.org/clinvar/354599 ^@ NM_002397.4(MEF2C):c.-442dupC http://identifiers.org/clinvar/354499 ^@ NM_004385.4(VCAN):c.*1671C>T http://identifiers.org/clinvar/354649 ^@ NM_000439.4(PCSK1):c.1096-10C>T http://identifiers.org/clinvar/354549 ^@ NM_002397.4(MEF2C):c.*3666C>T http://identifiers.org/clinvar/359278 ^@ NM_004456.4(EZH2):c.1852-9A>G http://identifiers.org/clinvar/354849 ^@ NM_007214.4(SEC63):c.*2376A>T http://identifiers.org/clinvar/354749 ^@ NM_020381.3(PDSS2):c.*1610T>C http://identifiers.org/clinvar/359328 ^@ NM_016203.3(PRKAG2):c.*964G>A http://identifiers.org/clinvar/354799 ^@ NM_001242957.2(MAK):c.867A>G (p.Val289=) http://identifiers.org/clinvar/354899 ^@ NM_007214.4(SEC63):c.1703_1705delAAG (p.Glu568del) http://identifiers.org/clinvar/355049 ^@ NM_014845.5(FIG4):c.2568G>T (p.Ser856=) http://identifiers.org/clinvar/354949 ^@ NM_014028.3(OSTM1):c.*2145A>T http://identifiers.org/clinvar/355100 ^@ NM_000493.3(COL10A1):c.982G>A (p.Ala328Thr) http://identifiers.org/clinvar/359628 ^@ NM_001277115.1(DNAH11):c.4825C>T (p.Leu1609Phe) http://identifiers.org/clinvar/359728 ^@ NM_032581.3(FAM126A):c.*2904A>T http://identifiers.org/clinvar/355150 ^@ NM_002667.4(PLN):c.*1172T>C http://identifiers.org/clinvar/355250 ^@ NM_000426.3(LAMA2):c.1506C>A (p.Ser502=) http://identifiers.org/clinvar/359778 ^@ NM_032581.3(FAM126A):c.766G>C (p.Ala256Pro) http://identifiers.org/clinvar/359878 ^@ NM_018947.5(CYCS):c.*4109T>A http://identifiers.org/clinvar/359928 ^@ NM_018947.5(CYCS):c.*1343A>G http://identifiers.org/clinvar/355350 ^@ NM_006208.2(ENPP1):c.2124C>A (p.Phe708Leu) http://identifiers.org/clinvar/355400 ^@ NM_006208.2(ENPP1):c.*2076C>T http://identifiers.org/clinvar/355700 ^@ NM_203395.2(IYD):c.*672_*673delCTinsTG http://identifiers.org/clinvar/355600 ^@ NM_003764.3(STX11):c.214T>C (p.Phe72Leu) http://identifiers.org/clinvar/360428 ^@ NM_000790.3(DDC):c.*23C>A http://identifiers.org/clinvar/365026 ^@ NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) http://identifiers.org/clinvar/365176 ^@ NM_001130438.2(SPTAN1):c.6532G>A (p.Glu2178Lys) http://identifiers.org/clinvar/365526 ^@ NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) http://identifiers.org/clinvar/365576 ^@ NM_014694.3(ADAMTSL2):c.392A>G (p.Gln131Arg) http://identifiers.org/clinvar/365826 ^@ NM_014564.4(LHX3):c.-81G>T http://identifiers.org/clinvar/366077 ^@ NM_144966.5(FREM1):c.*1299A>G http://identifiers.org/clinvar/366177 ^@ NM_144966.5(FREM1):c.70A>G (p.Thr24Ala) http://identifiers.org/clinvar/357239 ^@ NM_000255.3(MUT):c.*986G>A http://identifiers.org/clinvar/367645 ^@ NM_000264.3(PTCH1):c.*1413C>G http://identifiers.org/clinvar/311806 ^@ NM_000538.3(RFXAP):c.*1826delT http://identifiers.org/clinvar/311856 ^@ NM_001127217.2(SMAD9):c.*1647T>A http://identifiers.org/clinvar/311906 ^@ NM_001127217.2(SMAD9):c.327G>A (p.Pro109=) http://identifiers.org/clinvar/303918 ^@ NM_005566.3(LDHA):c.*175C>T http://identifiers.org/clinvar/312056 ^@ NM_207361.5(FREM2):c.*1624G>A http://identifiers.org/clinvar/298580 ^@ NM_016169.3(SUFU):c.*376G>A http://identifiers.org/clinvar/312406 ^@ NM_000053.3(ATP7B):c.-97C>T http://identifiers.org/clinvar/304268 ^@ NM_000218.2(KCNQ1):c.*932A>G http://identifiers.org/clinvar/298780 ^@ NM_005445.3(SMC3):c.*158G>A http://identifiers.org/clinvar/304368 ^@ NM_000280.4(PAX6):c.-501delG http://identifiers.org/clinvar/304418 ^@ NM_024426.4(WT1):c.1185C>T (p.Tyr395=) http://identifiers.org/clinvar/312756 ^@ NM_000270.3(PNP):c.*1342A>T http://identifiers.org/clinvar/312806 ^@ NM_001126106.2(SLC7A7):c.*246G>C http://identifiers.org/clinvar/298530 ^@ NM_022039.3(FBXW4):c.1000G>A (p.Glu334Lys) http://identifiers.org/clinvar/298930 ^@ NM_004132.4(HABP2):c.*599delA http://identifiers.org/clinvar/298680 ^@ NM_000494.3(COL17A1):c.*8A>G http://identifiers.org/clinvar/304718 ^@ NM_021926.3(ALX4):c.-81C>T http://identifiers.org/clinvar/298880 ^@ NM_007373.3(SHOC2):c.*1323C>T http://identifiers.org/clinvar/298980 ^@ NM_000141.4(FGFR2):c.*1287A>C http://identifiers.org/clinvar/300519 ^@ NM_002778.3(PSAP):c.923C>T (p.Pro308Leu) http://identifiers.org/clinvar/300669 ^@ NM_004273.4(CHST3):c.*4409C>T http://identifiers.org/clinvar/300869 ^@ NM_012330.3(KAT6B):c.1927A>T (p.Met643Leu) http://identifiers.org/clinvar/329178 ^@ NM_033064.4(ATCAY):c.*1193T>A http://identifiers.org/clinvar/317895 ^@ NM_032520.4(GNPTG):c.887G>A (p.Arg296Gln) http://identifiers.org/clinvar/309862 ^@ NM_012064.3(MIP):c.*1373A>G http://identifiers.org/clinvar/317845 ^@ NM_005236.2(ERCC4):c.*1708G>A http://identifiers.org/clinvar/317995 ^@ NM_014714.3(IFT140):c.3861C>T (p.Asp1287=) http://identifiers.org/clinvar/329628 ^@ NM_025136.3(OPA3):c.*3222C>T http://identifiers.org/clinvar/310012 ^@ NM_001172696.1(TSFM):c.375A>G (p.Thr125=) http://identifiers.org/clinvar/329728 ^@ NM_000554.5(CRX):c.*907C>T http://identifiers.org/clinvar/318247 ^@ NM_004970.2(IGFALS):c.920C>T (p.Pro307Leu) http://identifiers.org/clinvar/310112 ^@ NM_001065.3(TNFRSF1A):c.472+7G>T http://identifiers.org/clinvar/318347 ^@ NM_001039.3(SCNN1G):c.435C>T (p.Ser145=) http://identifiers.org/clinvar/310212 ^@ NM_002076.3(GNS):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/311706 ^@ NM_004795.3(KL):c.2626G>A (p.Asp876Asn) http://identifiers.org/clinvar/311756 ^@ NM_015087.4(SPG20):c.*704_*708delGTATT http://identifiers.org/clinvar/310412 ^@ NM_001131025.1(PEX5):c.-295T>C http://identifiers.org/clinvar/318647 ^@ NM_020705.2(TBC1D24):c.*1659G>A http://identifiers.org/clinvar/310462 ^@ NM_001131025.1(PEX5):c.*1139T>C http://identifiers.org/clinvar/310562 ^@ NM_020661.3(AICDA):c.*1083T>C http://identifiers.org/clinvar/312206 ^@ NM_014252.3(SLC25A15):c.*1721C>T http://identifiers.org/clinvar/312256 ^@ NM_003850.2(SUCLA2):c.*431G>C http://identifiers.org/clinvar/312306 ^@ NM_000321.2(RB1):c.*512A>C http://identifiers.org/clinvar/310717 ^@ NM_002108.3(HAL):c.686C>T (p.Thr229Ile) http://identifiers.org/clinvar/312506 ^@ NM_052910.2(SLITRK1):c.-70G>C http://identifiers.org/clinvar/312606 ^@ NM_005708.4(GPC6):c.*4182C>A http://identifiers.org/clinvar/312856 ^@ NM_002471.3(MYH6):c.3979-10C>A http://identifiers.org/clinvar/312906 ^@ NM_000257.3(MYH7):c.2936C>G (p.Thr979Arg) http://identifiers.org/clinvar/320187 ^@ NM_001538.3(HSF4):c.985C>A (p.Pro329Thr) http://identifiers.org/clinvar/320637 ^@ NM_001130089.1(KARS):c.684G>A (p.Pro228=) http://identifiers.org/clinvar/320687 ^@ NM_022041.3(GAN):c.*1250T>G http://identifiers.org/clinvar/320737 ^@ NM_012213.2(MLYCD):c.1344C>T (p.Cys448=) http://identifiers.org/clinvar/320787 ^@ NM_001451.2(FOXF1):c.60_62delGGG (p.Gly23del) http://identifiers.org/clinvar/311956 ^@ NM_207361.5(FREM2):c.2214A>G (p.Leu738=) http://identifiers.org/clinvar/312106 ^@ NM_207361.5(FREM2):c.*5598T>G http://identifiers.org/clinvar/321037 ^@ NM_001127464.2(ZNF469):c.*216G>A http://identifiers.org/clinvar/321387 ^@ NM_002386.3(MC1R):c.-1177G>C http://identifiers.org/clinvar/340054 ^@ NM_024022.2(TMPRSS3):c.*206A>G http://identifiers.org/clinvar/312356 ^@ NM_000053.3(ATP7B):c.*1182C>T http://identifiers.org/clinvar/312456 ^@ NM_000115.4(EDNRB):c.*1513G>C http://identifiers.org/clinvar/328378 ^@ NM_000435.2(NOTCH3):c.5678G>A (p.Arg1893Gln) http://identifiers.org/clinvar/328428 ^@ NM_173483.3(CYP4F22):c.387T>C (p.Asp129=) http://identifiers.org/clinvar/367695 ^@ NM_000061.2(BTK):c.954T>C (p.Ser318=) http://identifiers.org/clinvar/367895 ^@ NM_004208.3(AIFM1):c.-140C>G http://identifiers.org/clinvar/367945 ^@ NM_004840.2(ARHGEF6):c.468G>A (p.Thr156=) http://identifiers.org/clinvar/328828 ^@ NM_000285.3(PEPD):c.-130T>C http://identifiers.org/clinvar/368145 ^@ NM_171998.3(RAB39B):c.*139_*142delAGAC http://identifiers.org/clinvar/328978 ^@ NM_032753.3(RAX2):c.-60C>A http://identifiers.org/clinvar/368245 ^@ NM_004006.2(DMD):c.4845+4A>T http://identifiers.org/clinvar/368345 ^@ NM_003334.3(UBA1):c.2838+7delG http://identifiers.org/clinvar/368495 ^@ NM_000084.4(CLCN5):c.*1160delT http://identifiers.org/clinvar/329278 ^@ NM_181882.2(PRX):c.1087C>G (p.Pro363Ala) http://identifiers.org/clinvar/368595 ^@ NM_000032.4(ALAS2):c.1107C>T (p.Gly369=) http://identifiers.org/clinvar/329578 ^@ NM_025136.3(OPA3):c.*5873C>T http://identifiers.org/clinvar/327978 ^@ NM_001005360.2(DNM2):c.1335+13C>T http://identifiers.org/clinvar/328128 ^@ NM_000527.4(LDLR):c.*2366G>T http://identifiers.org/clinvar/328278 ^@ NM_000528.3(MAN2B1):c.639C>T (p.Phe213=) http://identifiers.org/clinvar/340104 ^@ NM_000394.3(CRYAA):c.*93T>G http://identifiers.org/clinvar/340304 ^@ NM_130445.3(COL18A1):c.*1222C>T http://identifiers.org/clinvar/340404 ^@ NM_001849.3(COL6A2):c.*202C>T http://identifiers.org/clinvar/340605 ^@ NM_014339.6(IL17RA):c.2038G>T (p.Ala680Ser) http://identifiers.org/clinvar/340755 ^@ NM_017929.5(PEX26):c.815-13C>T http://identifiers.org/clinvar/341494 ^@ NM_002473.5(MYH9):c.5456T>G (p.Leu1819Arg) http://identifiers.org/clinvar/341844 ^@ NM_001429.3(EP300):c.*591_*592dupAA http://identifiers.org/clinvar/339904 ^@ NM_144492.2(CLDN14):c.-527C>G http://identifiers.org/clinvar/341894 ^@ NM_000262.2(NAGA):c.*1090G>A http://identifiers.org/clinvar/339954 ^@ NM_000411.6(HLCS):c.*334A>G http://identifiers.org/clinvar/384156 ^@ NM_001458.4(FLNC):c.3138G>A (p.Pro1046=) http://identifiers.org/clinvar/385746 ^@ NM_032634.3(PIGO):c.969T>G (p.Leu323=) http://identifiers.org/clinvar/385596 ^@ NM_004329.2(BMPR1A):c.1166+19C>T http://identifiers.org/clinvar/390474 ^@ NM_000077.4(CDKN2A):c.*8A>T http://identifiers.org/clinvar/387535 ^@ NM_018941.3(CLN8):c.831C>T (p.Asn277=) http://identifiers.org/clinvar/380109 ^@ NM_004329.2(BMPR1A):c.-268+15C>G http://identifiers.org/clinvar/388085 ^@ NM_006231.3(POLE):c.2319+19C>T http://identifiers.org/clinvar/379458 ^@ NM_000315.3(PTH):c.166C>T (p.Arg56Cys) http://identifiers.org/clinvar/377609 ^@ NM_000719.6(CACNA1C):c.4074+19C>T http://identifiers.org/clinvar/384507 ^@ NM_015665.5(AAAS):c.942G>C (p.Trp314Cys) http://identifiers.org/clinvar/390074 ^@ NM_001876.3(CPT1A):c.556-7A>T http://identifiers.org/clinvar/382804 ^@ NM_004572.3(PKP2):c.980G>A (p.Gly327Glu) http://identifiers.org/clinvar/378211 ^@ NM_000257.3(MYH7):c.1569C>A (p.Leu523=) http://identifiers.org/clinvar/379208 ^@ NG_017041.1:g.5147G>A http://identifiers.org/clinvar/380209 ^@ NM_006231.3(POLE):c.910-6G>C http://identifiers.org/clinvar/388435 ^@ NM_000834.3(GRIN2B):c.540G>A (p.Gln180=) http://identifiers.org/clinvar/378009 ^@ NM_004982.3(KCNJ8):c.507C>T (p.Ile169=) http://identifiers.org/clinvar/389235 ^@ NM_001130004.1(ACTN1):c.2473C>T (p.Arg825Cys) http://identifiers.org/clinvar/388735 ^@ NM_000136.2(FANCC):c.457-15G>T http://identifiers.org/clinvar/384607 ^@ NM_001843.3(CNTN1):c.-12A>G http://identifiers.org/clinvar/390024 ^@ NM_004984.2(KIF5A):c.2539-13G>A http://identifiers.org/clinvar/384106 ^@ NM_000138.4(FBN1):c.1522C>T (p.Gln508Ter) http://identifiers.org/clinvar/377509 ^@ NM_000051.3(ATM):c.2967T>C (p.Thr989=) http://identifiers.org/clinvar/386446 ^@ NM_001271.3(CHD2):c.153C>T (p.Ser51=) http://identifiers.org/clinvar/383856 ^@ NM_000051.3(ATM):c.8964C>T (p.Asp2988=) http://identifiers.org/clinvar/387585 ^@ NM_001376.4(DYNC1H1):c.2283A>G (p.Pro761=) http://identifiers.org/clinvar/377759 ^@ NM_001909.4(CTSD):c.393C>T (p.Tyr131=) http://identifiers.org/clinvar/390324 ^@ NM_000548.4(TSC2):c.1119G>C (p.Gln373His) http://identifiers.org/clinvar/378261 ^@ NM_007103.3(NDUFV1):c.354C>T (p.Asp118=) http://identifiers.org/clinvar/383154 ^@ NM_005477.2(HCN4):c.2637C>T (p.Ser879=) http://identifiers.org/clinvar/388185 ^@ NM_005159.4(ACTC1):c.130-17A>C http://identifiers.org/clinvar/386546 ^@ NM_004360.4(CDH1):c.1842C>T (p.Ile614=) http://identifiers.org/clinvar/382554 ^@ NM_006231.3(POLE):c.1590C>T (p.Asp530=) http://identifiers.org/clinvar/385846 ^@ NM_002693.2(POLG):c.1389G>A (p.Leu463=) http://identifiers.org/clinvar/47461 ^@ NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) http://identifiers.org/clinvar/47511 ^@ NM_133378.4(TTN):c.83869A>G (p.Ile27957Val) http://identifiers.org/clinvar/47561 ^@ NM_133378.4(TTN):c.87949G>A (p.Ala29317Thr) http://identifiers.org/clinvar/47611 ^@ NM_001256850.1(TTN):c.94108T>A (p.Ser31370Thr) http://identifiers.org/clinvar/47661 ^@ TTN:c.9597A>G (p.Glu3199=) http://identifiers.org/clinvar/47711 ^@ NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) http://identifiers.org/clinvar/47761 ^@ NM_133379.4(TTN):c.13792C>T (p.Pro4598Ser) http://identifiers.org/clinvar/47811 ^@ NM_001256850.1(TTN):c.10721C>T (p.Thr3574Ile) http://identifiers.org/clinvar/47861 ^@ NM_138691.2(TMC1):c.145A>C (p.Ile49Leu) http://identifiers.org/clinvar/47911 ^@ NM_144573.3(NEXN):c.733G>A (p.Gly245Arg) http://identifiers.org/clinvar/47961 ^@ NM_147196.2(TMIE):c.388_391delAAGAinsG (p.Lys130_Lys131delinsGlu) http://identifiers.org/clinvar/48013 ^@ NM_005709.3(USH1C):c.307C>T (p.Arg103Cys) http://identifiers.org/clinvar/48063 ^@ NM_005572.3(LMNA):c.350A>G (p.Lys117Arg) http://identifiers.org/clinvar/48113 ^@ NM_000337.5(SGCD):c.-412A>T http://identifiers.org/clinvar/48163 ^@ NM_194248.2(OTOF):c.1045+2T>G http://identifiers.org/clinvar/48313 ^@ NM_198056.2(SCN5A):c.5885C>T (p.Pro1962Leu) http://identifiers.org/clinvar/48364 ^@ NM_206933.2(USH2A):c.11008G>A (p.Glu3670Lys) http://identifiers.org/clinvar/48414 ^@ NM_206933.2(USH2A):c.13222G>A (p.Val4408Ile) http://identifiers.org/clinvar/48464 ^@ NM_206933.2(USH2A):c.15433G>A (p.Val5145Ile) http://identifiers.org/clinvar/48516 ^@ NM_206933.2(USH2A):c.4440C>T (p.Ser1480=) http://identifiers.org/clinvar/22 ^@ NM_001006657.1(WDR35):c.2891delC (p.Pro964Leufs) http://identifiers.org/clinvar/229 ^@ NM_000027.3(AGA):c.214T>C (p.Ser72Pro) http://identifiers.org/clinvar/293 ^@ NM_000552.4(VWF):c.4196G>A (p.Arg1399His) http://identifiers.org/clinvar/302 ^@ NM_000552.4(VWF):c.3940G>C (p.Val1314Leu) http://identifiers.org/clinvar/307 ^@ VWF, 6-BP INS, NT1212 http://identifiers.org/clinvar/404 ^@ NM_000353.2(TAT):c.1249C>T (p.Arg417Ter) http://identifiers.org/clinvar/436 ^@ DPYD, 1-BP DEL, 1897C http://identifiers.org/clinvar/445 ^@ NM_133459.3(CCBE1):c.223T>A (p.Cys75Ser) http://identifiers.org/clinvar/486 ^@ NM_000317.2(PTS):c.84-323A>T http://identifiers.org/clinvar/495 ^@ NM_000320.2(QDPR):c.270G>A (p.Trp90Ter) http://identifiers.org/clinvar/541 ^@ TMEM70, 2-BP INS, 118GT http://identifiers.org/clinvar/828 ^@ NM_000038.5(APC):c.1192_1193delAA (p.Lys398Glufs) http://identifiers.org/clinvar/860 ^@ NM_013319.2(UBIAD1):c.695A>G (p.Asn232Ser) http://identifiers.org/clinvar/933 ^@ NM_000404.3(GLB1):c.1527G>T (p.Trp509Cys) http://identifiers.org/clinvar/938 ^@ NM_000404.3(GLB1):c.1444C>T (p.Arg482Cys) http://identifiers.org/clinvar/1037 ^@ NM_138387.3(G6PC3):c.758G>A (p.Arg253His) http://identifiers.org/clinvar/1042 ^@ NM_138387.3(G6PC3):c.346A>G (p.Met116Val) http://identifiers.org/clinvar/1074 ^@ NM_001127897.3(RPGRIP1L):c.2614C>T (p.Gln872Ter) http://identifiers.org/clinvar/1083 ^@ NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His) http://identifiers.org/clinvar/1199 ^@ MARVELD2, IVS4DS, G-A, +1 http://identifiers.org/clinvar/2061 ^@ NM_152443.2(RDH12):c.377C>T (p.Ala126Val) http://identifiers.org/clinvar/2107 ^@ NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) http://identifiers.org/clinvar/2152 ^@ NM_017929.5(PEX26):c.292C>T (p.Arg98Trp) http://identifiers.org/clinvar/2244 ^@ NM_000433.3(NCF2):c.298C>T (p.Gln100Ter) http://identifiers.org/clinvar/2335 ^@ SYNE1, IVS136AS, A-G, -2 http://identifiers.org/clinvar/2381 ^@ NM_000709.3(BCKDHA):c.929C>G (p.Thr310Arg) http://identifiers.org/clinvar/2426 ^@ NM_001875.4(CPS1):c.2359C>T (p.Arg787Ter) http://identifiers.org/clinvar/2471 ^@ NM_000401.3(EXT2):c.553_556delCTGT (p.Val187Profs) http://identifiers.org/clinvar/2517 ^@ NM_000346.3(SOX9):c.472G>A (p.Ala158Thr) http://identifiers.org/clinvar/2565 ^@ NM_006493.2(CLN5):c.225G>A (p.Trp75Ter) http://identifiers.org/clinvar/2610 ^@ ASPA, 4-BP DEL, 876AGAA http://identifiers.org/clinvar/2657 ^@ NM_198428.2(BBS9):c.1792C>T (p.Arg598Ter) http://identifiers.org/clinvar/2702 ^@ NM_021098.2(CACNA1H):c.844G>A (p.Glu282Lys) http://identifiers.org/clinvar/2749 ^@ NM_004183.3(BEST1):c.680A>G (p.Tyr227Cys) http://identifiers.org/clinvar/2794 ^@ GNPTG, 1-BP INS http://identifiers.org/clinvar/2839 ^@ NM_000019.3(ACAT1):c.1136G>T (p.Gly379Val) http://identifiers.org/clinvar/2885 ^@ NM_025193.3(HSD3B7):c.45_46delAG (p.Gly17Leufs) http://identifiers.org/clinvar/2975 ^@ NPC1, IVS16, G-A, -82 http://identifiers.org/clinvar/3117 ^@ NM_000218.2(KCNQ1):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/3169 ^@ NM_000187.3(HGD):c.457dupG (p.Asp153Glyfs) http://identifiers.org/clinvar/3214 ^@ NM_001079802.1(FKTN):c.509C>A (p.Ala170Glu) http://identifiers.org/clinvar/3263 ^@ MC2R, 1-BP INS, 1347A http://identifiers.org/clinvar/10142 ^@ NM_000132.3(F8):c.1033G>T (p.Val345Leu) http://identifiers.org/clinvar/10188 ^@ NM_000132.3(F8):c.849delT (p.Glu284Lysfs) http://identifiers.org/clinvar/10232 ^@ NM_000132.3(F8):c.1804C>T (p.Arg602Ter) http://identifiers.org/clinvar/10278 ^@ NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) http://identifiers.org/clinvar/10322 ^@ NM_000132.3(F8):c.6631G>C (p.Ala2211Pro) http://identifiers.org/clinvar/242797 ^@ NM_000402.4(G6PD):c.407C>G (p.Ser136Cys) http://identifiers.org/clinvar/10468 ^@ NM_000032.4(ALAS2):c.1427T>A (p.Ile476Asn) http://identifiers.org/clinvar/10513 ^@ NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) http://identifiers.org/clinvar/10559 ^@ F9, -6G-A http://identifiers.org/clinvar/10603 ^@ NM_000133.3(F9):c.892C>T (p.Arg298Ter) http://identifiers.org/clinvar/10649 ^@ NM_000133.3(F9):c.1232G>T (p.Ser411Ile) http://identifiers.org/clinvar/10695 ^@ NM_000266.3(NDP):c.362G>T (p.Arg121Leu) http://identifiers.org/clinvar/10785 ^@ NM_194277.2(FRMD7):c.252G>A (p.Val84=) http://identifiers.org/clinvar/10875 ^@ NM_000284.3(PDHA1):c.1159_1160delAA (p.Lys387Valfs) http://identifiers.org/clinvar/10920 ^@ NM_000397.3(CYBB):c.1244C>A (p.Pro415His) http://identifiers.org/clinvar/10966 ^@ NR0B1, DEL http://identifiers.org/clinvar/11010 ^@ NM_000531.5(OTC):c.386G>A (p.Arg129His) http://identifiers.org/clinvar/11056 ^@ NM_000252.2(MTM1):c.679-1G>A http://identifiers.org/clinvar/11431 ^@ NM_001129765.1(NSDHL):c.451G>T (p.Glu151Ter) http://identifiers.org/clinvar/11482 ^@ IL1RAPL1, EX2-5DEL http://identifiers.org/clinvar/11533 ^@ NM_003688.3(CASK):c.802T>C (p.Tyr268His) http://identifiers.org/clinvar/11583 ^@ NM_001363.4(DKC1):c.109_111delCTT (p.Leu37del) http://identifiers.org/clinvar/11633 ^@ SLC16A2, 1-BP DEL, 1212T http://identifiers.org/clinvar/11684 ^@ NM_000307.4(POU3F4):c.967C>G (p.Arg323Gly) http://identifiers.org/clinvar/11734 ^@ NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) http://identifiers.org/clinvar/11786 ^@ ATP7A, IVS6DS, G-A, +1 http://identifiers.org/clinvar/11836 ^@ MECP2, 11-BP DEL, EX1 http://identifiers.org/clinvar/11886 ^@ NM_001061.4(TBXAS1):c.1463T>C (p.Leu488Pro) http://identifiers.org/clinvar/11936 ^@ BCKDHB, 11-BP DEL http://identifiers.org/clinvar/11987 ^@ NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) http://identifiers.org/clinvar/12038 ^@ NM_001018115.2(FANCD2):c.3707G>A (p.Arg1236His) http://identifiers.org/clinvar/12088 ^@ NM_000131.4(F7):c.1224T>G (p.His408Gln) http://identifiers.org/clinvar/12138 ^@ NM_000387.5(SLC25A20):c.713A>G (p.Gln238Arg) http://identifiers.org/clinvar/12192 ^@ NM_001166120.1(HSD3B2):c.776C>T (p.Thr259Met) http://identifiers.org/clinvar/12244 ^@ NM_004360.4(CDH1):c.1901C>T (p.Ala634Val) http://identifiers.org/clinvar/13044 ^@ NM_000539.3(RHO):c.875C>A (p.Ala292Glu) http://identifiers.org/clinvar/13095 ^@ NM_000321.2(RB1):c.43_65dup23 (p.Pro23Leufs) http://identifiers.org/clinvar/13145 ^@ NM_000448.2(RAG1):c.2735A>G (p.Tyr912Cys) http://identifiers.org/clinvar/13197 ^@ NM_006907.3(PYCR1):c.356G>A (p.Arg119His) http://identifiers.org/clinvar/13247 ^@ NM_002739.4(PRKCG):c.353G>A (p.Gly118Asp) http://identifiers.org/clinvar/13298 ^@ NM_000141.4(FGFR2):c.1882G>A (p.Ala628Thr) http://identifiers.org/clinvar/13454 ^@ NM_000371.3(TTR):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/13505 ^@ NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) http://identifiers.org/clinvar/13555 ^@ NM_000212.2(ITGB3):c.718C>T (p.Arg240Trp) http://identifiers.org/clinvar/37785 ^@ NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile) http://identifiers.org/clinvar/37838 ^@ NM_000059.3(BRCA2):c.3395A>G (p.Lys1132Arg) http://identifiers.org/clinvar/37890 ^@ NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) http://identifiers.org/clinvar/37943 ^@ NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) http://identifiers.org/clinvar/37996 ^@ NM_000059.3(BRCA2):c.5782G>T (p.Glu1928Ter) http://identifiers.org/clinvar/38048 ^@ NM_000059.3(BRCA2):c.6486_6489delACAA (p.Lys2162Asnfs) http://identifiers.org/clinvar/38101 ^@ NM_000059.3(BRCA2):c.7543dupA (p.Thr2515Asnfs) http://identifiers.org/clinvar/38151 ^@ NM_000059.3(BRCA2):c.8309C>A (p.Ala2770Asp) http://identifiers.org/clinvar/38201 ^@ NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) http://identifiers.org/clinvar/38251 ^@ NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) http://identifiers.org/clinvar/38313 ^@ NM_000168.5(GLI3):c.2346_2356delGCTAAAACAAG (p.Arg782Serfs) http://identifiers.org/clinvar/38425 ^@ NM_024312.4(GNPTAB):c.3252delA (p.Pro1085Argfs) http://identifiers.org/clinvar/38573 ^@ NM_000060.4(BTD):c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) http://identifiers.org/clinvar/38753 ^@ NM_000495.4(COL4A5):c.788delC (p.Pro263Leufs) http://identifiers.org/clinvar/38865 ^@ NM_000282.3(PCCA):c.1651G>T (p.Val551Phe) http://identifiers.org/clinvar/38927 ^@ NM_001099274.1(TINF2):c.871A>G (p.Arg291Gly) http://identifiers.org/clinvar/38978 ^@ NM_004614.4(TK2):c.173A>G (p.Asn58Ser) http://identifiers.org/clinvar/39029 ^@ NM_024312.4(GNPTAB):c.1325G>A (p.Cys442Tyr) http://identifiers.org/clinvar/39079 ^@ NM_024312.4(GNPTAB):c.440delC (p.Asn148Thrfs) http://identifiers.org/clinvar/39136 ^@ NM_198578.3(LRRK2):c.155C>T (p.Ser52Phe) http://identifiers.org/clinvar/39186 ^@ NM_198578.3(LRRK2):c.4337C>T (p.Pro1446Leu) http://identifiers.org/clinvar/39236 ^@ NM_198578.3(LRRK2):c.7183G>A (p.Glu2395Lys) http://identifiers.org/clinvar/39287 ^@ NR_001566.1(TERC):n.28_34delGTGGTGG http://identifiers.org/clinvar/39449 ^@ NM_007101.3(SARDH):c.860C>T (p.Pro287Leu) http://identifiers.org/clinvar/39501 ^@ NM_183075.2(CYP2U1):c.1139A>G (p.Glu380Gly) http://identifiers.org/clinvar/39551 ^@ ALOXE3, LEU427PRO http://identifiers.org/clinvar/40518 ^@ NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) http://identifiers.org/clinvar/40640 ^@ NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) http://identifiers.org/clinvar/40726 ^@ NM_005633.3(SOS1):c.3347-1G>A http://identifiers.org/clinvar/40826 ^@ NM_030662.3(MAP2K2):c.844C>T (p.Pro282Ser) http://identifiers.org/clinvar/41001 ^@ NM_000132.3(F8):c.6769A>G (p.Met2257Val) http://identifiers.org/clinvar/41061 ^@ NM_003611.2(OFD1):c.111G>C (p.Lys37Asn) http://identifiers.org/clinvar/41117 ^@ NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs) http://identifiers.org/clinvar/41170 ^@ NM_003977.3(AIP):c.250G>A (p.Glu84Lys) http://identifiers.org/clinvar/41223 ^@ NM_004562.2(PRKN):c.500G>A (p.Ser167Asn) http://identifiers.org/clinvar/51385 ^@ NM_000059.3(BRCA2):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/51435 ^@ NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) http://identifiers.org/clinvar/51487 ^@ NM_000059.3(BRCA2):c.3556_3565delGTTGAAATTA (p.Val1186Asnfs) http://identifiers.org/clinvar/51538 ^@ NM_000059.3(BRCA2):c.383A>G (p.Asp128Gly) http://identifiers.org/clinvar/51590 ^@ NM_000059.3(BRCA2):c.4076delC (p.Thr1359Metfs) http://identifiers.org/clinvar/51642 ^@ NM_000059.3(BRCA2):c.4409_4410delTA (p.Ile1470Lysfs) http://identifiers.org/clinvar/51693 ^@ NM_000059.3(BRCA2):c.466_467insT (p.Asp156Valfs) http://identifiers.org/clinvar/51744 ^@ NM_000059.3(BRCA2):c.4933A>T (p.Lys1645Ter) http://identifiers.org/clinvar/51796 ^@ NM_000059.3(BRCA2):c.516_516+1insC http://identifiers.org/clinvar/51848 ^@ NM_000059.3(BRCA2):c.5380delG (p.Val1794Terfs) http://identifiers.org/clinvar/51900 ^@ NM_000059.3(BRCA2):c.5656C>T (p.Gln1886Ter) http://identifiers.org/clinvar/51952 ^@ NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) http://identifiers.org/clinvar/52004 ^@ NM_000059.3(BRCA2):c.6079A>G (p.Arg2027Gly) http://identifiers.org/clinvar/52055 ^@ NM_000059.3(BRCA2):c.631+43G>T http://identifiers.org/clinvar/52109 ^@ NM_000059.3(BRCA2):c.6458C>T (p.Pro2153Leu) http://identifiers.org/clinvar/52160 ^@ NM_000059.3(BRCA2):c.67+1G>A http://identifiers.org/clinvar/52210 ^@ NM_000059.3(BRCA2):c.6842-19A>G http://identifiers.org/clinvar/52261 ^@ NM_000059.3(BRCA2):c.7060C>T (p.Gln2354Ter) http://identifiers.org/clinvar/52312 ^@ NM_000059.3(BRCA2):c.7360delA (p.Ile2454Phefs) http://identifiers.org/clinvar/52362 ^@ NM_000059.3(BRCA2):c.7617+1G>A http://identifiers.org/clinvar/52413 ^@ NM_000059.3(BRCA2):c.7805+7T>A http://identifiers.org/clinvar/52463 ^@ NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) http://identifiers.org/clinvar/52513 ^@ NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His) http://identifiers.org/clinvar/52564 ^@ NM_000059.3(BRCA2):c.8363G>A (p.Trp2788Ter) http://identifiers.org/clinvar/52614 ^@ NM_000059.3(BRCA2):c.8532_8533delAA (p.Glu2846Glyfs) http://identifiers.org/clinvar/52666 ^@ NM_000059.3(BRCA2):c.8754+11A>C http://identifiers.org/clinvar/52716 ^@ NM_000059.3(BRCA2):c.8970G>A (p.Trp2990Ter) http://identifiers.org/clinvar/52767 ^@ NM_000059.3(BRCA2):c.9175A>G (p.Lys3059Glu) http://identifiers.org/clinvar/52818 ^@ NM_000059.3(BRCA2):c.9350A>C (p.His3117Pro) http://identifiers.org/clinvar/53326 ^@ NM_000492.3(CFTR):c.1670delC (p.Ser557Phefs) http://identifiers.org/clinvar/56224 ^@ NM_000390.3(CHM):c.1609+2dupT http://identifiers.org/clinvar/56275 ^@ NM_001042432.1(CLN3):c.485C>G (p.Ser162Ter) http://identifiers.org/clinvar/56377 ^@ NM_001126105.2(SLC7A7):c.753G>T (p.Glu251Asp) http://identifiers.org/clinvar/56429 ^@ NM_004646.3(NPHS1):c.1138C>T (p.Gln380Ter) http://identifiers.org/clinvar/56479 ^@ NM_004646.3(NPHS1):c.2515delC (p.Gln839Argfs) http://identifiers.org/clinvar/56529 ^@ NM_006493.2(CLN5):c.1103_1106delAACA (p.Lys368Serfs) http://identifiers.org/clinvar/56582 ^@ NM_017739.3(POMGNT1):c.1539+1G>A http://identifiers.org/clinvar/56638 ^@ NM_017890.4(VPS13B):c.11564delA (p.Tyr3855Leufs) http://identifiers.org/clinvar/56688 ^@ NM_017890.4(VPS13B):c.7603C>T (p.Arg2535Ter) http://identifiers.org/clinvar/56738 ^@ NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) http://identifiers.org/clinvar/242645 ^@ NM_000090.3(COL3A1):c.[=/3440_3466del27] (p.Pro1147_Gly1155del) http://identifiers.org/clinvar/102430 ^@ EVC2, 3797T-G, LEU1266TER http://identifiers.org/clinvar/102488 ^@ NM_000277.1(PAH):c.1039C>T (p.Leu347Phe) http://identifiers.org/clinvar/102545 ^@ NM_000277.1(PAH):c.1180G>C (p.Asp394His) http://identifiers.org/clinvar/102597 ^@ NM_000277.1(PAH):c.137delG (p.Gly46Valfs) http://identifiers.org/clinvar/102652 ^@ NM_000277.1(PAH):c.344_347delAAGA (p.Lys115Thrfs) http://identifiers.org/clinvar/102703 ^@ NM_000277.1(PAH):c.500A>G (p.Asn167Ser) http://identifiers.org/clinvar/102753 ^@ NM_000277.1(PAH):c.602A>G (p.His201Arg) http://identifiers.org/clinvar/102804 ^@ NM_000277.1(PAH):c.722G>A (p.Arg241His) http://identifiers.org/clinvar/102906 ^@ NM_000277.1(PAH):c.940delC (p.Pro314Leufs) http://identifiers.org/clinvar/102964 ^@ NM_178844.3(NLRC3):c.-538G>A http://identifiers.org/clinvar/103014 ^@ NM_001033053.2(NLRP1):c.-159C>T http://identifiers.org/clinvar/103064 ^@ NM_001174081.2(NLRP2):c.2879+173G>A http://identifiers.org/clinvar/103114 ^@ NM_022162.2(NOD2):c.*8G>A http://identifiers.org/clinvar/103164 ^@ NM_032206.4(NLRC5):c.2712-121G>C http://identifiers.org/clinvar/103214 ^@ NM_134444.4(NLRP4):c.-175G>A http://identifiers.org/clinvar/103264 ^@ NM_145007.3(NLRP11):c.*85A>G http://identifiers.org/clinvar/103314 ^@ NM_176810.2(NLRP13):c.2650T>A (p.Cys884Ser) http://identifiers.org/clinvar/103364 ^@ NM_178844.3(NLRC3):c.2016-3C>T http://identifiers.org/clinvar/111238 ^@ NM_005534.3(IFNGR2):c.337C>T (p.Leu113=) http://identifiers.org/clinvar/120173 ^@ NM_000767.4(CYP2B6):c.341T>C (p.Ile114Thr) http://identifiers.org/clinvar/120250 ^@ NM_006912.5(RIT1):c.270G>A (p.Met90Ile) http://identifiers.org/clinvar/120300 ^@ NM_001282227.1(ADA2):c.200C>A (p.Ala67Asp) http://identifiers.org/clinvar/125526 ^@ NM_007294.3(BRCA1):c.81-65G>C http://identifiers.org/clinvar/125612 ^@ NM_007294.3(BRCA1):c.212+21G>A http://identifiers.org/clinvar/125680 ^@ NM_007294.3(BRCA1):c.4113delG (p.Cys1372Valfs) http://identifiers.org/clinvar/125744 ^@ NM_007294.3(BRCA1):c.4987-581_4987-499del http://identifiers.org/clinvar/125820 ^@ NM_007294.3(BRCA1):c.5304delC (p.Tyr1769Metfs) http://identifiers.org/clinvar/125882 ^@ NM_007294.3(BRCA1):c.547+24T>G http://identifiers.org/clinvar/125947 ^@ NM_000059.3(BRCA2):c.1538A>G (p.Lys513Arg) http://identifiers.org/clinvar/126145 ^@ U43746.1:n.7829+1G>T http://identifiers.org/clinvar/126204 ^@ U43746.1:n.9476_9491del16 http://identifiers.org/clinvar/126263 ^@ NM_025114.3(CEP290):c.5709+18C>A http://identifiers.org/clinvar/126314 ^@ NM_020732.3(ARID1B):c.1348_1350dupCCG (p.Pro450_Ser451insPro) http://identifiers.org/clinvar/126364 ^@ NM_001128849.1(SMARCA4):c.4680C>T (p.Asp1560=) http://identifiers.org/clinvar/126421 ^@ NM_020822.2(KCNT1):c.862G>A (p.Gly288Ser) http://identifiers.org/clinvar/127351 ^@ NM_000051.3(ATM):c.2502dupA (p.Val835Serfs) http://identifiers.org/clinvar/127401 ^@ NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) http://identifiers.org/clinvar/127451 ^@ NM_000051.3(ATM):c.7897T>G (p.Leu2633Val) http://identifiers.org/clinvar/127502 ^@ NM_000057.3(BLM):c.3651A>T (p.Lys1217Asn) http://identifiers.org/clinvar/127552 ^@ NM_000179.2(MSH6):c.1028C>T (p.Pro343Leu) http://identifiers.org/clinvar/127602 ^@ NM_000179.2(MSH6):c.602_603delAG (p.Glu201Alafs) http://identifiers.org/clinvar/127653 ^@ NM_000251.2(MSH2):c.841T>C (p.Ser281Pro) http://identifiers.org/clinvar/127712 ^@ NM_000465.3(BARD1):c.1028C>T (p.Thr343Ile) http://identifiers.org/clinvar/127762 ^@ NM_000535.6(PMS2):c.1501G>A (p.Val501Met) http://identifiers.org/clinvar/127813 ^@ NM_000546.5(TP53):c.485T>G (p.Ile162Ser) http://identifiers.org/clinvar/159947 ^@ NM_006306.3(SMC1A):c.2131C>T (p.Arg711Trp) http://identifiers.org/clinvar/177635 ^@ NM_001001430.2(TNNT2):c.833G>C (p.Arg278Pro) http://identifiers.org/clinvar/180097 ^@ NM_001035.2(RYR2):c.11174T>C (p.Leu3725Pro) http://identifiers.org/clinvar/163641 ^@ NM_013296.4(GPSM2):c.1816-8A>G http://identifiers.org/clinvar/165533 ^@ NM_000364.3(TNNT2):c.842+1G>T http://identifiers.org/clinvar/179247 ^@ NM_001035.2(RYR2):c.10528C>T (p.Arg3510Cys) http://identifiers.org/clinvar/165118 ^@ NM_001035.2(RYR2):c.10941T>G (p.Pro3647=) http://identifiers.org/clinvar/163530 ^@ NM_024009.2(GJB3):c.477G>A (p.Pro159=) http://identifiers.org/clinvar/164796 ^@ NM_144573.3(NEXN):c.1773A>G (p.Thr591=) http://identifiers.org/clinvar/165659 ^@ NM_133378.4(TTN):c.93455A>G (p.Lys31152Arg) http://identifiers.org/clinvar/179797 ^@ NM_133378.4(TTN):c.73593T>C (p.Asp24531=) http://identifiers.org/clinvar/179697 ^@ NM_133378.4(TTN):c.71405G>A (p.Gly23802Glu) http://identifiers.org/clinvar/179047 ^@ NM_001256850.1(TTN):c.42937G>A (p.Ala14313Thr) http://identifiers.org/clinvar/178339 ^@ NM_001042702.3(DFNB59):c.766+8T>C http://identifiers.org/clinvar/178189 ^@ NM_133378.4(TTN):c.67800T>G (p.Ser22600Arg) http://identifiers.org/clinvar/165842 ^@ NM_133378.4(TTN):c.65686C>T (p.Arg21896Trp) http://identifiers.org/clinvar/180047 ^@ NM_133378.4(TTN):c.90371C>G (p.Thr30124Arg) http://identifiers.org/clinvar/179397 ^@ NM_133378.4(TTN):c.20653G>T (p.Glu6885Ter) http://identifiers.org/clinvar/179647 ^@ NM_133378.4(TTN):c.36581G>A (p.Arg12194Gln) http://identifiers.org/clinvar/179497 ^@ NM_133378.4(TTN):c.27161C>T (p.Ala9054Val) http://identifiers.org/clinvar/178239 ^@ NM_133378.4(TTN):c.18509-14A>G http://identifiers.org/clinvar/179197 ^@ NM_133432.3(TTN):c.10888T>C (p.Phe3630Leu) http://identifiers.org/clinvar/178139 ^@ NM_024334.2(TMEM43):c.442+7G>A http://identifiers.org/clinvar/178589 ^@ NM_006005.3(WFS1):c.1152C>T (p.Phe384=) http://identifiers.org/clinvar/179947 ^@ NM_003280.2(TNNC1):c.203-10C>G http://identifiers.org/clinvar/179147 ^@ NM_006005.3(WFS1):c.654C>T (p.Pro218=) http://identifiers.org/clinvar/165269 ^@ NM_206883.2(SLC26A5):c.1457A>G (p.Tyr486Cys) http://identifiers.org/clinvar/179747 ^@ NM_004999.3(MYO6):c.2972G>A (p.Arg991Gln) http://identifiers.org/clinvar/179997 ^@ NM_004403.2(DFNA5):c.991-15_991-13delTTC http://identifiers.org/clinvar/177787 ^@ NM_005228.4(EGFR):c.2232_2250del19 (p.Lys745Hisfs) http://identifiers.org/clinvar/179297 ^@ NM_032119.3(ADGRV1):c.5568C>T (p.Ala1856=) http://identifiers.org/clinvar/198434 ^@ NM_000719.6(CACNA1C):c.1113+4C>T http://identifiers.org/clinvar/198485 ^@ NM_002834.4(PTPN11):c.806A>G (p.Gln269Arg) http://identifiers.org/clinvar/198539 ^@ NM_006214.3(PHYH):c.734G>A (p.Arg245Gln) http://identifiers.org/clinvar/198591 ^@ NM_024426.4(WT1):c.1107A>G (p.Arg369=) http://identifiers.org/clinvar/198642 ^@ NM_022124.5(CDH23):c.9759C>T (p.Asp3253=) http://identifiers.org/clinvar/198693 ^@ NM_000192.3(TBX5):c.787G>A (p.Val263Met) http://identifiers.org/clinvar/198748 ^@ NM_000709.3(BCKDHA):c.1080C>T (p.Pro360=) http://identifiers.org/clinvar/198799 ^@ NM_004385.4(VCAN):c.8622G>A (p.Ala2874=) http://identifiers.org/clinvar/198853 ^@ NM_014008.4(CCDC22):c.962G>A (p.Arg321Gln) http://identifiers.org/clinvar/198906 ^@ NM_024596.4(MCPH1):c.1480G>A (p.Ala494Thr) http://identifiers.org/clinvar/198959 ^@ NM_004543.4(NEB):c.12532-3delT http://identifiers.org/clinvar/199011 ^@ NM_000316.2(PTH1R):c.645G>T (p.Leu215=) http://identifiers.org/clinvar/199061 ^@ NM_001143979.1(NDE1):c.909A>G (p.Arg303=) http://identifiers.org/clinvar/199115 ^@ NM_005957.4(MTHFR):c.1392C>T (p.Thr464=) http://identifiers.org/clinvar/199166 ^@ NM_022455.4(NSD1):c.4303-4A>G http://identifiers.org/clinvar/199222 ^@ NM_001271208.1(NEB):c.18786C>T (p.Tyr6262=) http://identifiers.org/clinvar/199662 ^@ NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) http://identifiers.org/clinvar/201370 ^@ NM_001035.2(RYR2):c.796G>A (p.Ala266Thr) http://identifiers.org/clinvar/201260 ^@ NM_001035.2(RYR2):c.5821C>A (p.Arg1941Ser) http://identifiers.org/clinvar/201314 ^@ NM_001035.2(RYR2):c.11591A>G (p.Asn3864Ser) http://identifiers.org/clinvar/199723 ^@ NM_000090.3(COL3A1):c.1622G>T (p.Ser541Ile) http://identifiers.org/clinvar/201540 ^@ NM_198056.2(SCN5A):c.5546A>G (p.His1849Arg) http://identifiers.org/clinvar/201483 ^@ NM_198056.2(SCN5A):c.2924G>A (p.Arg975Gln) http://identifiers.org/clinvar/201598 ^@ NM_198056.2(SCN5A):c.2704_2705dupAC (p.Met903Profs) http://identifiers.org/clinvar/201427 ^@ NM_198056.2(SCN5A):c.611+1G>A http://identifiers.org/clinvar/199943 ^@ NM_004415.3(DSP):c.3049_3050dupTT (p.Leu1017Phefs) http://identifiers.org/clinvar/199887 ^@ NM_004415.3(DSP):c.4901G>A (p.Arg1634Gln) http://identifiers.org/clinvar/200113 ^@ NM_000138.4(FBN1):c.7430A>G (p.Gln2477Arg) http://identifiers.org/clinvar/200059 ^@ NM_000138.4(FBN1):c.5097C>G (p.Tyr1699Ter) http://identifiers.org/clinvar/200004 ^@ NM_000138.4(FBN1):c.2746G>A (p.Val916Met) http://identifiers.org/clinvar/199777 ^@ NM_024422.4(DSC2):c.34G>A (p.Gly12Arg) http://identifiers.org/clinvar/199832 ^@ NM_001943.4(DSG2):c.2360A>G (p.Asp787Gly) http://identifiers.org/clinvar/201654 ^@ NM_001103.3(ACTN2):c.2612G>T (p.Gly871Val) http://identifiers.org/clinvar/201930 ^@ NM_144573.3(NEXN):c.1684G>C (p.Glu562Gln) http://identifiers.org/clinvar/202043 ^@ NM_001134363.2(RBM20):c.1451C>T (p.Thr484Ile) http://identifiers.org/clinvar/201873 ^@ NM_032578.3(MYPN):c.3493+14delC http://identifiers.org/clinvar/202161 ^@ NM_014000.2(VCL):c.1708C>T (p.Arg570Ter) http://identifiers.org/clinvar/201985 ^@ NM_004572.3(PKP2):c.1547A>G (p.Lys516Arg) http://identifiers.org/clinvar/202101 ^@ NM_003673.3(TCAP):c.-13A>G http://identifiers.org/clinvar/201821 ^@ NM_002230.2(JUP):c.1099C>G (p.Arg367Gly) http://identifiers.org/clinvar/201765 ^@ NM_001390.4(DTNA):c.614C>T (p.Thr205Met) http://identifiers.org/clinvar/242593 ^@ NM_016124.4(RHD):c.1025T>C (p.Ile342Thr) http://identifiers.org/clinvar/202211 ^@ NM_003900.4(SQSTM1):c.1160C>T (p.Pro387Leu) http://identifiers.org/clinvar/203105 ^@ NM_001256850.1(TTN):c.101344G>T (p.Val33782Phe) http://identifiers.org/clinvar/202284 ^@ NM_001256850.1(TTN):c.97773C>T (p.Val32591=) http://identifiers.org/clinvar/203055 ^@ NM_001256850.1(TTN):c.95509T>G (p.Trp31837Gly) http://identifiers.org/clinvar/202497 ^@ NM_001256850.1(TTN):c.92609_92611delTTTinsA (p.Val30870Aspfs) http://identifiers.org/clinvar/202334 ^@ NM_001256850.1(TTN):c.82709G>A (p.Arg27570His) http://identifiers.org/clinvar/202905 ^@ NM_001256850.1(TTN):c.76379G>T (p.Gly25460Val) http://identifiers.org/clinvar/202855 ^@ NM_001256850.1(TTN):c.69382A>G (p.Asn23128Asp) http://identifiers.org/clinvar/202805 ^@ NM_001256850.1(TTN):c.62174T>C (p.Ile20725Thr) http://identifiers.org/clinvar/233223 ^@ NM_005732.3(RAD50):c.13G>A (p.Glu5Lys) http://identifiers.org/clinvar/230183 ^@ NM_005732.3(RAD50):c.34G>C (p.Val12Leu) http://identifiers.org/clinvar/233825 ^@ NM_005732.3(RAD50):c.2584C>T (p.His862Tyr) http://identifiers.org/clinvar/231183 ^@ NM_004168.3(SDHA):c.1973C>T (p.Pro658Leu) http://identifiers.org/clinvar/232923 ^@ NM_000535.6(PMS2):c.1718C>A (p.Thr573Asn) http://identifiers.org/clinvar/230883 ^@ NM_000535.6(PMS2):c.1464G>A (p.Ala488=) http://identifiers.org/clinvar/231283 ^@ NM_004329.2(BMPR1A):c.246C>A (p.Cys82Ter) http://identifiers.org/clinvar/232773 ^@ NM_004329.2(BMPR1A):c.560G>A (p.Arg187His) http://identifiers.org/clinvar/230633 ^@ NM_000314.6(PTEN):c.908T>G (p.Ile303Ser) http://identifiers.org/clinvar/233723 ^@ NM_000051.3(ATM):c.488A>G (p.Gln163Arg) http://identifiers.org/clinvar/232623 ^@ NM_000051.3(ATM):c.2394T>C (p.Ile798=) http://identifiers.org/clinvar/233775 ^@ NM_000051.3(ATM):c.3866A>G (p.Lys1289Arg) http://identifiers.org/clinvar/233573 ^@ NM_000051.3(ATM):c.5631_5635delCTCGCinsA (p.Phe1877Leufs) http://identifiers.org/clinvar/233023 ^@ NM_000051.3(ATM):c.6975G>C (p.Ala2325=) http://identifiers.org/clinvar/230433 ^@ NM_000051.3(ATM):c.7010G>A (p.Cys2337Tyr) http://identifiers.org/clinvar/232873 ^@ NM_000051.3(ATM):c.7629_7629+4delTGTAA http://identifiers.org/clinvar/230033 ^@ NM_000059.3(BRCA2):c.1302A>G (p.Lys434=) http://identifiers.org/clinvar/230683 ^@ NM_000059.3(BRCA2):c.1776T>C (p.Tyr592=) http://identifiers.org/clinvar/233473 ^@ NM_000059.3(BRCA2):c.5045G>A (p.Ser1682Asn) http://identifiers.org/clinvar/233876 ^@ NM_000059.3(BRCA2):c.10031T>C (p.Leu3344Pro) http://identifiers.org/clinvar/231633 ^@ NM_024675.3(PALB2):c.2750T>C (p.Val917Ala) http://identifiers.org/clinvar/233423 ^@ NM_024675.3(PALB2):c.878G>A (p.Gly293Asp) http://identifiers.org/clinvar/231383 ^@ NM_004360.4(CDH1):c.113C>A (p.Thr38Lys) http://identifiers.org/clinvar/230083 ^@ NM_004360.4(CDH1):c.1091C>T (p.Thr364Ile) http://identifiers.org/clinvar/232973 ^@ NM_004360.4(CDH1):c.2008A>G (p.Met670Val) http://identifiers.org/clinvar/230583 ^@ NM_144997.5(FLCN):c.1539-5T>G http://identifiers.org/clinvar/233373 ^@ NM_001042492.2(NF1):c.235T>C (p.Leu79=) http://identifiers.org/clinvar/230533 ^@ NM_001042492.2(NF1):c.1938T>C (p.Asp646=) http://identifiers.org/clinvar/231733 ^@ NM_001042492.2(NF1):c.2032C>G (p.Pro678Ala) http://identifiers.org/clinvar/231783 ^@ NM_001042492.2(NF1):c.3766C>T (p.Leu1256=) http://identifiers.org/clinvar/231833 ^@ NM_001042492.2(NF1):c.5007T>C (p.Phe1669=) http://identifiers.org/clinvar/231083 ^@ NM_007294.3(BRCA1):c.4997dupA (p.Tyr1666Terfs) http://identifiers.org/clinvar/230483 ^@ NM_007294.3(BRCA1):c.4258C>G (p.Gln1420Glu) http://identifiers.org/clinvar/230733 ^@ NM_007294.3(BRCA1):c.1319T>G (p.Leu440Ter) http://identifiers.org/clinvar/230283 ^@ NM_058216.2(RAD51C):c.-5C>T http://identifiers.org/clinvar/230833 ^@ NM_058216.2(RAD51C):c.698A>G (p.His233Arg) http://identifiers.org/clinvar/233173 ^@ NM_032043.2(BRIP1):c.1660C>G (p.Gln554Glu) http://identifiers.org/clinvar/231333 ^@ NM_032043.2(BRIP1):c.108A>C (p.Leu36Phe) http://identifiers.org/clinvar/230983 ^@ NM_032043.2(BRIP1):c.93+5G>A http://identifiers.org/clinvar/233323 ^@ NM_000546.5(TP53):c.815T>G (p.Val272Gly) http://identifiers.org/clinvar/231033 ^@ NM_000546.5(TP53):c.779C>A (p.Ser260Tyr) http://identifiers.org/clinvar/231133 ^@ NM_000546.5(TP53):c.146A>G (p.Asp49Gly) http://identifiers.org/clinvar/232673 ^@ NM_000546.5(TP53):c.58T>C (p.Ser20Pro) http://identifiers.org/clinvar/230933 ^@ NM_005359.5(SMAD4):c.1405A>G (p.Ile469Val) http://identifiers.org/clinvar/232823 ^@ NM_000455.4(STK11):c.30C>A (p.Gly10=) http://identifiers.org/clinvar/233673 ^@ NM_000455.4(STK11):c.31A>G (p.Met11Val) http://identifiers.org/clinvar/242386 ^@ NM_003632.2(CNTNAP1):c.967T>C (p.Cys323Arg) http://identifiers.org/clinvar/239422 ^@ NM_003000.2(SDHB):c.155C>A (p.Ala52Asp) http://identifiers.org/clinvar/241062 ^@ NM_015488.4(PNKD):c.973C>T (p.Arg325Cys) http://identifiers.org/clinvar/241962 ^@ NM_152383.4(DIS3L2):c.1488T>C (p.His496=) http://identifiers.org/clinvar/239822 ^@ NM_004304.4(ALK):c.336C>G (p.Ala112=) http://identifiers.org/clinvar/239119 ^@ NM_002354.2(EPCAM):c.111C>G (p.Asn37Lys) http://identifiers.org/clinvar/237378 ^@ NM_000251.2(MSH2):c.1938T>C (p.Asp646=) http://identifiers.org/clinvar/241012 ^@ NM_015120.4(ALMS1):c.8242G>T (p.Val2748Leu) http://identifiers.org/clinvar/241762 ^@ NM_053025.3(MYLK):c.4929C>T (p.Asp1643=) http://identifiers.org/clinvar/241712 ^@ NM_032638.4(GATA2):c.*183C>T http://identifiers.org/clinvar/242212 ^@ NM_198253.2(TERT):c.1143C>T (p.Arg381=) http://identifiers.org/clinvar/238968 ^@ NM_001369.2(DNAH5):c.3291dupA (p.Pro1098Thrfs) http://identifiers.org/clinvar/239069 ^@ NM_001903.4(CTNNA1):c.897G>A (p.Glu299=) http://identifiers.org/clinvar/241212 ^@ NM_017838.3(NHP2):c.270A>G (p.Val90=) http://identifiers.org/clinvar/239672 ^@ NM_004168.3(SDHA):c.457-2_457delAGC http://identifiers.org/clinvar/241412 ^@ NM_021930.5(RINT1):c.629T>G (p.Leu210Arg) http://identifiers.org/clinvar/238918 ^@ NM_001277115.1(DNAH11):c.4438C>T (p.Arg1480Ter) http://identifiers.org/clinvar/241112 ^@ NM_016616.4(NME8):c.57G>A (p.Leu19=) http://identifiers.org/clinvar/262761 ^@ NM_153717.2(EVC):c.1026G>C (p.Leu342=) http://identifiers.org/clinvar/261811 ^@ NM_025074.6(FRAS1):c.7011G>A (p.Ala2337=) http://identifiers.org/clinvar/262061 ^@ NM_032446.2(MEGF10):c.116+10T>C http://identifiers.org/clinvar/261561 ^@ NM_022132.4(MCCC2):c.739-25C>T http://identifiers.org/clinvar/259371 ^@ NM_004385.4(VCAN):c.6123C>T (p.Ile2041=) http://identifiers.org/clinvar/262161 ^@ NM_033071.3(SYNE1):c.130-25C>T http://identifiers.org/clinvar/262011 ^@ NM_032122.4(DTNBP1):c.487A>C (p.Arg163=) http://identifiers.org/clinvar/261111 ^@ NM_019105.6(TNXB):c.11525-25T>C http://identifiers.org/clinvar/261161 ^@ NM_019105.6(TNXB):c.7483G>A (p.Gly2495Ser) http://identifiers.org/clinvar/262311 ^@ NM_080680.2(COL11A2):c.4641C>T (p.Leu1547=) http://identifiers.org/clinvar/262411 ^@ NM_138694.3(PKHD1):c.7486+41C>A http://identifiers.org/clinvar/259321 ^@ NM_004370.5(COL12A1):c.1892-6A>T http://identifiers.org/clinvar/258132 ^@ NM_001458.4(FLNC):c.2125G>A (p.Ala709Thr) http://identifiers.org/clinvar/260372 ^@ NM_014251.2(SLC25A13):c.93T>C (p.Gly31=) http://identifiers.org/clinvar/260172 ^@ NM_012082.3(ZFPM2):c.1776T>C (p.Pro592=) http://identifiers.org/clinvar/260272 ^@ NM_012472.5(LRRC6):c.1343T>C (p.Ile448Thr) http://identifiers.org/clinvar/261311 ^@ NM_020476.2(ANK1):c.4390+16C>T http://identifiers.org/clinvar/260022 ^@ NM_006731.2(FKTN):c.370-50T>C http://identifiers.org/clinvar/261361 ^@ NM_020822.2(KCNT1):c.1200+12T>G http://identifiers.org/clinvar/262361 ^@ NM_133497.3(KCNV2):c.1597C>G (p.Leu533Val) http://identifiers.org/clinvar/262911 ^@ NM_175073.2(APTX):c.513G>A (p.Leu171=) http://identifiers.org/clinvar/260122 ^@ NM_007126.3(VCP):c.1360-14C>G http://identifiers.org/clinvar/261761 ^@ NM_024747.5(HPS6):c.*178T>G http://identifiers.org/clinvar/259772 ^@ NM_005445.3(SMC3):c.92-19A>G http://identifiers.org/clinvar/256882 ^@ NM_001008211.1(OPTN):c.553-10G>A http://identifiers.org/clinvar/262111 ^@ NM_032844.4(MASTL):c.-12T>G http://identifiers.org/clinvar/262211 ^@ NM_033100.3(CDHR1):c.2055C>T (p.Ser685=) http://identifiers.org/clinvar/261961 ^@ NM_031433.3(MFRP):c.1374G>T (p.Leu458Phe) http://identifiers.org/clinvar/261711 ^@ NM_024426.4(WT1):c.366C>G (p.Pro122=) http://identifiers.org/clinvar/259171 ^@ NM_003793.3(CTSF):c.722-5C>T http://identifiers.org/clinvar/262811 ^@ NM_172364.4(CACNA2D4):c.1866G>A (p.Pro622=) http://identifiers.org/clinvar/256682 ^@ NM_000552.4(VWF):c.4693G>T (p.Val1565Leu) http://identifiers.org/clinvar/261411 ^@ NM_021150.3(GRIP1):c.2308+15T>C http://identifiers.org/clinvar/262261 ^@ NM_052867.2(NALCN):c.3714C>T (p.Thr1238=) http://identifiers.org/clinvar/261611 ^@ NM_022489.3(INF2):c.2640T>C (p.Asp880=) http://identifiers.org/clinvar/257132 ^@ NM_001024858.2(SPTB):c.6023-8C>T http://identifiers.org/clinvar/259621 ^@ NM_005050.3(ABCD4):c.910G>A (p.Ala304Thr) http://identifiers.org/clinvar/257532 ^@ NM_001130010.2(C15orf41):c.217C>G (p.Leu73Val) http://identifiers.org/clinvar/257632 ^@ NM_001211.5(BUB1B):c.1164G>A (p.Ala388=) http://identifiers.org/clinvar/260322 ^@ NM_014080.4(DUOX2):c.2944C>G (p.Pro982Ala) http://identifiers.org/clinvar/335758 ^@ NM_000379.3(XDH):c.3847C>T (p.Arg1283Ter) http://identifiers.org/clinvar/335808 ^@ NM_000348.3(SRD5A2):c.*686G>T http://identifiers.org/clinvar/335158 ^@ NM_004544.3(NDUFA10):c.*3113G>A http://identifiers.org/clinvar/335308 ^@ NM_152783.4(D2HGDH):c.-98T>G http://identifiers.org/clinvar/333217 ^@ NM_005259.2(MSTN):c.*1362A>G http://identifiers.org/clinvar/335508 ^@ NM_000221.2(KHK):c.*200A>G http://identifiers.org/clinvar/335858 ^@ NM_014946.3(SPAST):c.*1376A>G http://identifiers.org/clinvar/335958 ^@ NM_000104.3(CYP1B1):c.-2G>A http://identifiers.org/clinvar/336058 ^@ NM_022436.2(ABCG5):c.-118A>C http://identifiers.org/clinvar/337354 ^@ NM_022912.2(REEP1):c.*2441C>T http://identifiers.org/clinvar/334107 ^@ NM_000384.2(APOB):c.10128A>G (p.Ala3376=) http://identifiers.org/clinvar/334808 ^@ NM_000091.4(COL4A3):c.*1165G>A http://identifiers.org/clinvar/337204 ^@ NM_000821.6(GGCX):c.*3398T>C http://identifiers.org/clinvar/334658 ^@ NM_000092.4(COL4A4):c.*3636C>T http://identifiers.org/clinvar/335058 ^@ NM_002242.4(KCNJ13):c.-72_-71delCT http://identifiers.org/clinvar/342894 ^@ NM_053025.3(MYLK):c.1952C>T (p.Pro651Leu) http://identifiers.org/clinvar/343094 ^@ NM_002880.3(RAF1):c.*627C>T http://identifiers.org/clinvar/335258 ^@ NM_004321.7(KIF1A):c.4475C>T (p.Pro1492Leu) http://identifiers.org/clinvar/343244 ^@ NM_052985.3(IFT122):c.1911C>G (p.His637Gln) http://identifiers.org/clinvar/335008 ^@ NM_005199.4(CHRNG):c.1030C>T (p.Arg344Cys) http://identifiers.org/clinvar/335408 ^@ NM_000183.2(HADHB):c.1371G>A (p.Ala457=) http://identifiers.org/clinvar/335458 ^@ NM_194248.2(OTOF):c.591G>A (p.Pro197=) http://identifiers.org/clinvar/335108 ^@ NM_004369.3(COL6A3):c.7175-11A>G http://identifiers.org/clinvar/335658 ^@ NM_001029883.2(C2orf71):c.1582C>T (p.Arg528Cys) http://identifiers.org/clinvar/335708 ^@ NM_004304.4(ALK):c.1249G>A (p.Val417Met) http://identifiers.org/clinvar/343744 ^@ NG_011800.2:g.53915T>C http://identifiers.org/clinvar/335558 ^@ NM_144631.5(ZNF513):c.605G>T (p.Gly202Val) http://identifiers.org/clinvar/335908 ^@ NM_000104.3(CYP1B1):c.*2660T>A http://identifiers.org/clinvar/335608 ^@ NM_001029883.2(C2orf71):c.*1259C>T http://identifiers.org/clinvar/336008 ^@ NM_005633.3(SOS1):c.*544C>T http://identifiers.org/clinvar/344044 ^@ NM_001041.3(SI):c.2395A>G (p.Ile799Val) http://identifiers.org/clinvar/343194 ^@ NM_014049.4(ACAD9):c.555T>G (p.Ser185Arg) http://identifiers.org/clinvar/350613 ^@ NM_005573.3(LMNB1):c.642+10T>C http://identifiers.org/clinvar/350563 ^@ NM_001182.4(ALDH7A1):c.*1002_*1003insA http://identifiers.org/clinvar/350863 ^@ NM_014402.4(UQCRQ):c.*1204G>A http://identifiers.org/clinvar/350913 ^@ NM_001369.2(DNAH5):c.*563G>A http://identifiers.org/clinvar/354860 ^@ NM_007214.4(SEC63):c.*1920_*1921insC http://identifiers.org/clinvar/351013 ^@ NM_001369.2(DNAH5):c.12586C>G (p.Gln4196Glu) http://identifiers.org/clinvar/350963 ^@ NM_017415.2(KLHL3):c.*1451A>G http://identifiers.org/clinvar/355060 ^@ NM_003880.3(WISP3):c.168G>T (p.Gln56His) http://identifiers.org/clinvar/355111 ^@ NM_000493.3(COL10A1):c.155-6T>C http://identifiers.org/clinvar/358539 ^@ NM_000111.2(SLC26A3):c.1786T>G (p.Cys596Gly) http://identifiers.org/clinvar/358589 ^@ NM_000108.4(DLD):c.*1688G>A http://identifiers.org/clinvar/358639 ^@ NM_014491.3(FOXP2):c.*1826G>A http://identifiers.org/clinvar/358739 ^@ NM_000492.3(CFTR):c.*303G>C http://identifiers.org/clinvar/358839 ^@ NM_000230.2(LEP):c.*1720A>G http://identifiers.org/clinvar/355800 ^@ NM_033071.3(SYNE1):c.*433A>G http://identifiers.org/clinvar/355850 ^@ NM_033071.3(SYNE1):c.17878G>A (p.Glu5960Lys) http://identifiers.org/clinvar/358939 ^@ NM_018718.2(CEP41):c.1009T>C (p.Ser337Pro) http://identifiers.org/clinvar/358989 ^@ NM_005989.3(AKR1D1):c.*1274A>G http://identifiers.org/clinvar/355950 ^@ NM_033071.3(SYNE1):c.309+14A>G http://identifiers.org/clinvar/359139 ^@ NM_001080413.3(NOBOX):c.1698C>T (p.Ser566=) http://identifiers.org/clinvar/359189 ^@ NM_014141.5(CNTNAP2):c.2460C>T (p.Ser820=) http://identifiers.org/clinvar/356050 ^@ NM_003730.4(RNASET2):c.-251G>C http://identifiers.org/clinvar/359339 ^@ NM_016203.3(PRKAG2):c.*350C>A http://identifiers.org/clinvar/359389 ^@ NM_022458.3(LMBR1):c.*2065A>G http://identifiers.org/clinvar/359439 ^@ NM_022458.3(LMBR1):c.52G>T (p.Val18Leu) http://identifiers.org/clinvar/352121 ^@ NM_005211.3(CSF1R):c.*35C>T http://identifiers.org/clinvar/356200 ^@ NM_000410.3(HFE):c.*417C>T http://identifiers.org/clinvar/352171 ^@ NM_005211.3(CSF1R):c.294C>T (p.His98=) http://identifiers.org/clinvar/359589 ^@ NM_001101426.3(ISPD):c.626G>C (p.Arg209Thr) http://identifiers.org/clinvar/356300 ^@ NM_006929.4(SKIV2L):c.-280G>T http://identifiers.org/clinvar/352221 ^@ NM_001135243.1(TCOF1):c.2923C>G (p.Pro975Ala) http://identifiers.org/clinvar/352321 ^@ NM_000171.3(GLRA1):c.117G>C (p.Ser39=) http://identifiers.org/clinvar/356850 ^@ NM_014780.4(CUL7):c.1215C>T (p.Asn405=) http://identifiers.org/clinvar/356900 ^@ NM_006502.2(POLH):c.660+10A>C http://identifiers.org/clinvar/356950 ^@ NM_006502.2(POLH):c.*1841A>G http://identifiers.org/clinvar/360578 ^@ NM_153033.4(KCTD7):c.-155G>C http://identifiers.org/clinvar/360728 ^@ NM_000941.2(POR):c.*179G>A http://identifiers.org/clinvar/360778 ^@ NM_000601.5(HGF):c.1715A>G (p.Tyr572Cys) http://identifiers.org/clinvar/360978 ^@ NM_000089.3(COL1A2):c.*205A>G http://identifiers.org/clinvar/361328 ^@ NM_178857.5(RP1L1):c.2923T>A (p.Leu975Met) http://identifiers.org/clinvar/361429 ^@ NM_178857.5(RP1L1):c.77C>T (p.Ser26Leu) http://identifiers.org/clinvar/361479 ^@ NM_001715.2(BLK):c.391C>A (p.Arg131=) http://identifiers.org/clinvar/353760 ^@ NM_002203.3(ITGA2):c.2069A>G (p.Gln690Arg) http://identifiers.org/clinvar/361738 ^@ NM_014846.3(WASHC5):c.-124-11dupT http://identifiers.org/clinvar/353860 ^@ NM_002203.3(ITGA2):c.*3918G>C http://identifiers.org/clinvar/361838 ^@ NM_004519.3(KCNQ3):c.*2475C>T http://identifiers.org/clinvar/306283 ^@ NM_024698.5(SLC25A22):c.-238C>T http://identifiers.org/clinvar/306384 ^@ NM_012193.3(FZD4):c.*1481C>T http://identifiers.org/clinvar/306434 ^@ NM_001814.5(CTSC):c.-7C>A http://identifiers.org/clinvar/306534 ^@ NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) http://identifiers.org/clinvar/361078 ^@ NM_017890.4(VPS13B):c.9175G>A (p.Gly3059Ser) http://identifiers.org/clinvar/300280 ^@ NM_000399.4(EGR2):c.169+10G>T http://identifiers.org/clinvar/300430 ^@ NM_022124.5(CDH23):c.4147G>A (p.Asp1383Asn) http://identifiers.org/clinvar/307184 ^@ NM_001681.3(ATP2A2):c.2742-6C>T http://identifiers.org/clinvar/307384 ^@ NM_005996.3(TBX3):c.-198T>C http://identifiers.org/clinvar/364737 ^@ NM_012210.3(TRIM32):c.*1206T>C http://identifiers.org/clinvar/364787 ^@ NM_018249.5(CDK5RAP2):c.-3G>C http://identifiers.org/clinvar/300830 ^@ NM_001123.3(ADK):c.-260A>T http://identifiers.org/clinvar/364987 ^@ NM_002316.3(LMX1B):c.*3957C>A http://identifiers.org/clinvar/364837 ^@ NM_000177.4(GSN):c.*120_*121insG http://identifiers.org/clinvar/365137 ^@ NM_001003722.1(GLE1):c.*111T>C http://identifiers.org/clinvar/308323 ^@ NM_139241.3(FGD4):c.*1781G>A http://identifiers.org/clinvar/365087 ^@ NM_000118.3(ENG):c.1419C>T (p.Ser473=) http://identifiers.org/clinvar/365537 ^@ NM_139025.4(ADAMTS13):c.540-3G>A http://identifiers.org/clinvar/308723 ^@ NM_016123.3(IRAK4):c.-54G>A http://identifiers.org/clinvar/308823 ^@ NM_001017535.1(VDR):c.*2328C>G http://identifiers.org/clinvar/308873 ^@ NM_001017535.1(VDR):c.*70C>T http://identifiers.org/clinvar/308923 ^@ NM_001844.4(COL2A1):c.1680+9C>A http://identifiers.org/clinvar/308973 ^@ NM_003482.3(KMT2D):c.*2077G>A http://identifiers.org/clinvar/309023 ^@ NM_003482.3(KMT2D):c.12084C>T (p.Thr4028=) http://identifiers.org/clinvar/365387 ^@ NM_000368.4(TSC1):c.*4631dupT http://identifiers.org/clinvar/309123 ^@ NM_000217.2(KCNA1):c.-1040G>T http://identifiers.org/clinvar/309273 ^@ NM_000486.5(AQP2):c.*3161A>G http://identifiers.org/clinvar/309423 ^@ NM_014191.3(SCN8A):c.*4311C>G http://identifiers.org/clinvar/309573 ^@ NM_000424.3(KRT5):c.123C>T (p.Gly41=) http://identifiers.org/clinvar/310512 ^@ NM_002469.2(MYF6):c.*185T>G http://identifiers.org/clinvar/366327 ^@ NM_003070.4(SMARCA2):c.4761G>A (p.Thr1587=) http://identifiers.org/clinvar/366827 ^@ NM_005476.5(GNE):c.*722_*724delAAT http://identifiers.org/clinvar/306684 ^@ NM_018979.3(WNK1):c.*1034T>C http://identifiers.org/clinvar/311017 ^@ NM_001845.5(COL4A1):c.*137G>A http://identifiers.org/clinvar/322041 ^@ NM_144997.5(FLCN):c.*914C>T http://identifiers.org/clinvar/340905 ^@ NM_003073.4(SMARCB1):c.-157G>A http://identifiers.org/clinvar/341005 ^@ NM_022081.5(HPS4):c.1641C>T (p.Cys547=) http://identifiers.org/clinvar/322441 ^@ NM_003593.2(FOXN1):c.*254G>A http://identifiers.org/clinvar/341055 ^@ NM_007194.3(CHEK2):c.1461+12A>G http://identifiers.org/clinvar/313106 ^@ NM_020529.2(NFKBIA):c.*81_*83delGAA http://identifiers.org/clinvar/322541 ^@ NM_001045.5(SLC6A4):c.12G>A (p.Thr4=) http://identifiers.org/clinvar/341305 ^@ NM_012179.3(FBXO7):c.-93G>A http://identifiers.org/clinvar/341355 ^@ NM_000362.4(TIMP3):c.*541T>A http://identifiers.org/clinvar/341405 ^@ NM_000362.4(TIMP3):c.*3233T>A http://identifiers.org/clinvar/341505 ^@ NM_002473.5(MYH9):c.4305C>T (p.Ser1435=) http://identifiers.org/clinvar/313406 ^@ NM_000161.2(GCH1):c.-131C>T http://identifiers.org/clinvar/313456 ^@ NM_005982.3(SIX1):c.*443A>G http://identifiers.org/clinvar/341705 ^@ NM_022098.3(XPNPEP3):c.*1798C>T http://identifiers.org/clinvar/313506 ^@ NM_182914.2(SYNE2):c.4070C>T (p.Thr1357Met) http://identifiers.org/clinvar/341805 ^@ NM_001429.3(EP300):c.4311A>C (p.Ala1437=) http://identifiers.org/clinvar/341855 ^@ NM_001429.3(EP300):c.*922_*932delACTCACACACAinsCCC http://identifiers.org/clinvar/342105 ^@ NM_015166.3(MLC1):c.715-5C>A http://identifiers.org/clinvar/342155 ^@ NM_001953.4(TYMP):c.202G>A (p.Gly68Ser) http://identifiers.org/clinvar/367756 ^@ NM_002294.2(LAMP2):c.*2460A>G http://identifiers.org/clinvar/313956 ^@ NM_000021.3(PSEN1):c.*364T>C http://identifiers.org/clinvar/367906 ^@ NM_194277.2(FRMD7):c.*196G>C http://identifiers.org/clinvar/368006 ^@ NM_000133.3(F9):c.*293C>T http://identifiers.org/clinvar/323980 ^@ NM_000080.3(CHRNE):c.1242C>A (p.Gly414=) http://identifiers.org/clinvar/368206 ^@ NM_004006.2(DMD):c.*1758_*1761delTTCA http://identifiers.org/clinvar/368356 ^@ NM_153380.3(ZNF41):c.*49T>C http://identifiers.org/clinvar/324339 ^@ NM_032043.2(BRIP1):c.*339G>C http://identifiers.org/clinvar/324439 ^@ NM_000789.3(ACE):c.*978_*980delGAA http://identifiers.org/clinvar/324539 ^@ NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) http://identifiers.org/clinvar/324589 ^@ NM_014336.4(AIPL1):c.*897_*901delCAAAA http://identifiers.org/clinvar/317356 ^@ NM_198525.2(KIF7):c.2364G>C (p.Arg788Ser) http://identifiers.org/clinvar/317406 ^@ NM_000057.3(BLM):c.2206dupT (p.Tyr736Leufs) http://identifiers.org/clinvar/317456 ^@ NM_000875.4(IGF1R):c.2989G>A (p.Glu997Lys) http://identifiers.org/clinvar/325189 ^@ NM_001005731.2(ITGB4):c.4101T>A (p.Asp1367Glu) http://identifiers.org/clinvar/316405 ^@ NM_014985.3(CEP152):c.*170T>C http://identifiers.org/clinvar/373356 ^@ NM_022114.3(PRDM16):c.1325G>A (p.Arg442Gln) http://identifiers.org/clinvar/372493 ^@ NM_000329.2(RPE65):c.893delA (p.Lys298Serfs) http://identifiers.org/clinvar/373206 ^@ NM_001135659.2(NRXN1):c.2963A>G (p.Asp988Gly) http://identifiers.org/clinvar/372647 ^@ NM_002880.3(RAF1):c.482A>G (p.Asn161Ser) http://identifiers.org/clinvar/372904 ^@ NM_024665.5(TBL1XR1):c.248T>A (p.Leu83Gln) http://identifiers.org/clinvar/372853 ^@ NM_002700.2(POU4F3):c.502delG (p.Ala168Profs) http://identifiers.org/clinvar/372800 ^@ NM_003919.2(SGCE):c.232+1G>T http://identifiers.org/clinvar/372437 ^@ NM_004959.4(NR5A1):c.937C>T (p.Arg313Cys) http://identifiers.org/clinvar/372750 ^@ NM_000426.3(LAMA2):c.8245-2A>G http://identifiers.org/clinvar/373056 ^@ NM_006772.2(SYNGAP1):c.1716G>A (p.Trp572Ter) http://identifiers.org/clinvar/372596 ^@ NM_004092.3(ECHS1):c.817A>G (p.Lys273Glu) http://identifiers.org/clinvar/373406 ^@ NM_000264.3(PTCH1):c.1504-1G>C http://identifiers.org/clinvar/373456 ^@ NM_001081.3(CUBN):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/372956 ^@ NM_001845.5(COL4A1):c.3797G>A (p.Gly1266Asp) http://identifiers.org/clinvar/373706 ^@ NM_006493.2(CLN5):c.878A>G (p.Glu293Gly) http://identifiers.org/clinvar/373006 ^@ NM_170665.3(ATP2A2):c.467G>T (p.Gly156Val) http://identifiers.org/clinvar/373256 ^@ NM_000138.4(FBN1):c.4444G>A (p.Gly1482Ser) http://identifiers.org/clinvar/373306 ^@ NM_000088.3(COL1A1):c.3565C>A (p.Pro1189Thr) http://identifiers.org/clinvar/373156 ^@ NM_001128159.2(VPS53):c.740T>C (p.Ile247Thr) http://identifiers.org/clinvar/373106 ^@ NM_000088.3(COL1A1):c.3208G>A (p.Gly1070Ser) http://identifiers.org/clinvar/373656 ^@ NM_020774.3(MIB1):c.705T>C (p.Gly235=) http://identifiers.org/clinvar/373606 ^@ NM_001943.4(DSG2):c.1100A>G (p.Lys367Arg) http://identifiers.org/clinvar/373506 ^@ NM_001037.4(SCN1B):c.448+199G>A http://identifiers.org/clinvar/373556 ^@ NM_001456.3(FLNA):c.6314A>G (p.Asn2105Ser) http://identifiers.org/clinvar/372546 ^@ NM_000377.2(WAS):c.777+1G>A http://identifiers.org/clinvar/372386 ^@ NM_000206.2(IL2RG):c.43C>T (p.Gln15Ter) http://identifiers.org/clinvar/372700 ^@ NM_000052.6(ATP7A):c.278C>T (p.Thr93Met) http://identifiers.org/clinvar/374440 ^@ NM_000435.2(NOTCH3):c.2182C>T (p.Arg728Cys) http://identifiers.org/clinvar/374490 ^@ NM_007215.3(POLG2):c.290C>T (p.Pro97Leu) http://identifiers.org/clinvar/374540 ^@ NM_183075.2(CYP2U1):c.554delT (p.Arg186Valfs) http://identifiers.org/clinvar/374590 ^@ NM_020919.3(ALS2):c.281T>G (p.Ile94Ser) http://identifiers.org/clinvar/374640 ^@ NM_004006.2(DMD):c.79dupG (p.Ala27Glyfs) http://identifiers.org/clinvar/385157 ^@ NM_005633.3(SOS1):c.1489C>A (p.Arg497=) http://identifiers.org/clinvar/381913 ^@ NM_000090.3(COL3A1):c.1461C>T (p.Ala487=) http://identifiers.org/clinvar/379469 ^@ NM_000179.2(MSH6):c.856G>T (p.Glu286Ter) http://identifiers.org/clinvar/390585 ^@ NM_015120.4(ALMS1):c.12111C>G (p.Thr4037=) http://identifiers.org/clinvar/387646 ^@ NM_000249.3(MLH1):c.1948T>C (p.Leu650=) http://identifiers.org/clinvar/380811 ^@ NM_004130.3(GYG1):c.608+14G>C http://identifiers.org/clinvar/384256 ^@ NM_020166.4(MCCC1):c.1941C>A (p.Gly647=) http://identifiers.org/clinvar/379169 ^@ NM_000249.3(MLH1):c.1410-4G>T http://identifiers.org/clinvar/390735 ^@ NM_006514.3(SCN10A):c.1867+13C>T http://identifiers.org/clinvar/390335 ^@ NM_001148.4(ANK2):c.9936C>T (p.Ser3312=) http://identifiers.org/clinvar/381562 ^@ NM_001999.3(FBN2):c.7293C>T (p.Ala2431=) http://identifiers.org/clinvar/387546 ^@ NM_000816.3(GABRG2):c.15T>C (p.Asn5=) http://identifiers.org/clinvar/380660 ^@ NM_000038.5(APC):c.1023A>G (p.Gln341=) http://identifiers.org/clinvar/381963 ^@ NM_052985.3(IFT122):c.2981A>G (p.Tyr994Cys) http://identifiers.org/clinvar/381462 ^@ NM_003722.4(TP63):c.1177C>T (p.Arg393Ter) http://identifiers.org/clinvar/388496 ^@ NM_020117.10(LARS):c.1306G>A (p.Gly436Ser) http://identifiers.org/clinvar/380020 ^@ NM_013391.3(DMGDH):c.2250+9A>G http://identifiers.org/clinvar/386796 ^@ NM_005654.5(NR2F1):c.1134C>A (p.Arg378=) http://identifiers.org/clinvar/387846 ^@ NM_004415.3(DSP):c.2298-10C>T http://identifiers.org/clinvar/384206 ^@ NM_183050.3(BCKDHB):c.742+7A>T http://identifiers.org/clinvar/379069 ^@ NM_004519.3(KCNQ3):c.1839C>T (p.Ile613=) http://identifiers.org/clinvar/390485 ^@ NM_005431.1(XRCC2):c.121+8A>G http://identifiers.org/clinvar/381813 ^@ NM_000168.5(GLI3):c.1287G>A (p.Pro429=) http://identifiers.org/clinvar/386996 ^@ NM_000445.4(PLEC):c.11424G>A (p.Ser3808=) http://identifiers.org/clinvar/385357 ^@ NM_000445.4(PLEC):c.2058+7G>A http://identifiers.org/clinvar/380912 ^@ NM_000445.4(PLEC):c.-7+15G>T http://identifiers.org/clinvar/378667 ^@ NM_001130438.2(SPTAN1):c.7419G>A (p.Ser2473=) http://identifiers.org/clinvar/390685 ^@ NM_000050.4(ASS1):c.1127+15C>T http://identifiers.org/clinvar/379419 ^@ NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) http://identifiers.org/clinvar/387096 ^@ NM_004519.3(KCNQ3):c.1141-3C>T http://identifiers.org/clinvar/386596 ^@ NM_002290.4(LAMA4):c.1336+15C>G http://identifiers.org/clinvar/384857 ^@ NM_024790.6(CSPP1):c.2575A>C (p.Ser859Arg) http://identifiers.org/clinvar/133049 ^@ NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) http://identifiers.org/clinvar/133099 ^@ NM_000540.2(RYR1):c.152C>A (p.Thr51Asn) http://identifiers.org/clinvar/133149 ^@ NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) http://identifiers.org/clinvar/133252 ^@ NM_005689.2(ABCB6):c.1766G>A (p.Arg589His) http://identifiers.org/clinvar/133835 ^@ NM_001783.3(CD79A):c.419C>A (p.Thr140Asn) http://identifiers.org/clinvar/133885 ^@ NM_004364.4(CEBPA):c.1009A>T (p.Thr337Ser) http://identifiers.org/clinvar/133935 ^@ NM_004380.2(CREBBP):c.964G>C (p.Val322Leu) http://identifiers.org/clinvar/133985 ^@ NM_153759.3(DNMT3A):c.78G>C (p.Glu26Asp) http://identifiers.org/clinvar/134035 ^@ NM_001429.3(EP300):c.2091T>G (p.Ser697Arg) http://identifiers.org/clinvar/134087 ^@ NM_001005862.2(ERBB2):c.146A>C (p.Glu49Ala) http://identifiers.org/clinvar/134137 ^@ NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) http://identifiers.org/clinvar/134187 ^@ NM_000123.3(ERCC5):c.1127C>T (p.Ala376Val) http://identifiers.org/clinvar/134237 ^@ NM_000135.2(FANCA):c.17T>A (p.Val6Asp) http://identifiers.org/clinvar/134288 ^@ NM_000135.2(FANCA):c.553C>A (p.Leu185Ile) http://identifiers.org/clinvar/134338 ^@ NM_021922.2(FANCE):c.1095A>C (p.Arg365Ser) http://identifiers.org/clinvar/134389 ^@ NM_001144913.1(FGFR2):c.2310A>G (p.Ter770Trp) http://identifiers.org/clinvar/135229 ^@ NM_014159.6(SETD2):c.2632G>C (p.Gly878Arg) http://identifiers.org/clinvar/135280 ^@ NM_016169.3(SUFU):c.872T>C (p.Ile291Thr) http://identifiers.org/clinvar/135330 ^@ NM_006290.3(TNFAIP3):c.305A>G (p.Asn102Ser) http://identifiers.org/clinvar/135380 ^@ NM_000548.4(TSC2):c.3542C>T (p.Thr1181Met) http://identifiers.org/clinvar/135431 ^@ NM_000553.4(WRN):c.3422C>T (p.Ser1141Leu) http://identifiers.org/clinvar/135481 ^@ NM_004628.4(XPC):c.872C>G (p.Ser291Cys) http://identifiers.org/clinvar/135531 ^@ NM_000400.3(ERCC2):c.1119-146T>G http://identifiers.org/clinvar/135595 ^@ NM_002136.3(HNRNPA1):c.817T>G (p.Phe273Val) http://identifiers.org/clinvar/135657 ^@ NM_005640.2(TAF4B):c.1831C>T (p.Arg611Ter) http://identifiers.org/clinvar/135717 ^@ NM_000038.5(APC):c.7125A>G (p.Gln2375=) http://identifiers.org/clinvar/135768 ^@ NM_000051.3(ATM):c.6317A>T (p.Asn2106Ile) http://identifiers.org/clinvar/135826 ^@ NM_000077.4(CDKN2A):c.318G>A (p.Val106=) http://identifiers.org/clinvar/135876 ^@ NM_000264.3(PTCH1):c.2134C>T (p.Leu712Phe) http://identifiers.org/clinvar/135926 ^@ NM_000455.4(STK11):c.721G>A (p.Ala241Thr) http://identifiers.org/clinvar/135977 ^@ NM_001127500.2(MET):c.789G>A (p.Thr263=) http://identifiers.org/clinvar/136028 ^@ NM_002354.2(EPCAM):c.597T>C (p.Ser199=) http://identifiers.org/clinvar/136079 ^@ NM_007294.3(BRCA1):c.1704T>G (p.Pro568=) http://identifiers.org/clinvar/136129 ^@ NM_024675.3(PALB2):c.1637T>C (p.Val546Ala) http://identifiers.org/clinvar/136189 ^@ NM_130838.1(UBE3A):c.263_264delTA (p.Ile88Lysfs) http://identifiers.org/clinvar/136291 ^@ NM_001106.3(ACVR2B):c.1344+7G>T http://identifiers.org/clinvar/186031 ^@ NM_002878.3(RAD51D):c.393C>T (p.Asn131=) http://identifiers.org/clinvar/184981 ^@ NM_007294.3(BRCA1):c.5512G>T (p.Val1838Leu) http://identifiers.org/clinvar/184631 ^@ NM_007294.3(BRCA1):c.5430G>A (p.Val1810=) http://identifiers.org/clinvar/185731 ^@ NM_007294.3(BRCA1):c.4422T>C (p.Ala1474=) http://identifiers.org/clinvar/185481 ^@ NM_007294.3(BRCA1):c.2218G>T (p.Val740Leu) http://identifiers.org/clinvar/187522 ^@ NM_007294.3(BRCA1):c.640G>A (p.Asp214Asn) http://identifiers.org/clinvar/184581 ^@ NM_058216.2(RAD51C):c.870T>A (p.Ile290=) http://identifiers.org/clinvar/187222 ^@ NM_000546.5(TP53):c.768A>G (p.Thr256=) http://identifiers.org/clinvar/185581 ^@ NM_000546.5(TP53):c.83A>T (p.Glu28Val) http://identifiers.org/clinvar/184481 ^@ NM_000455.4(STK11):c.1152G>T (p.Arg384=) http://identifiers.org/clinvar/187122 ^@ NM_007194.3(CHEK2):c.1447C>T (p.His483Tyr) http://identifiers.org/clinvar/185681 ^@ NM_007194.3(CHEK2):c.347G>A (p.Gly116Glu) http://identifiers.org/clinvar/228692 ^@ NM_001458.4(FLNC):c.2450T>C (p.Ile817Thr) http://identifiers.org/clinvar/229192 ^@ NM_001134363.2(RBM20):c.2286dupA (p.Glu763Argfs) http://identifiers.org/clinvar/229042 ^@ NM_006393.2(NEBL):c.109_110delTT (p.Leu37Lysfs) http://identifiers.org/clinvar/228492 ^@ NM_022124.5(CDH23):c.3328A>G (p.Ser1110Gly) http://identifiers.org/clinvar/227942 ^@ NM_005411.4(SFTPA1):c.56T>C (p.Val19Ala) http://identifiers.org/clinvar/228792 ^@ NM_007078.2(LDB3):c.1016C>G (p.Ala339Gly) http://identifiers.org/clinvar/227992 ^@ NM_005422.2(TECTA):c.2322C>T (p.Ala774=) http://identifiers.org/clinvar/228192 ^@ NM_153676.3(USH1C):c.1449G>A (p.Ser483=) http://identifiers.org/clinvar/229092 ^@ NM_001277269.1(OTOG):c.4192G>A (p.Asp1398Asn) http://identifiers.org/clinvar/227461 ^@ NM_000218.2(KCNQ1):c.1514+7G>T http://identifiers.org/clinvar/228842 ^@ NM_001145308.4(LRTOMT):c.802C>T (p.His268Tyr) http://identifiers.org/clinvar/228442 ^@ NM_004316.3(ASCL1):c.175_186dupCAGCAGCAGCAG (p.Gln62_Ala63insGlnGlnGlnGln) http://identifiers.org/clinvar/228392 ^@ NM_002834.4(PTPN11):c.181G>T (p.Asp61Tyr) http://identifiers.org/clinvar/229142 ^@ NM_004572.3(PKP2):c.1462G>A (p.Gly488Ser) http://identifiers.org/clinvar/228342 ^@ NM_000115.4(EDNRB):c.618G>A (p.Trp206Ter) http://identifiers.org/clinvar/228892 ^@ NM_002471.3(MYH6):c.3995C>T (p.Ala1332Val) http://identifiers.org/clinvar/228242 ^@ NM_001089.2(ABCA3):c.1609_1611+4delinsCCA http://identifiers.org/clinvar/226570 ^@ NM_178452.5(DNAAF1):c.1077G>A (p.Ala359=) http://identifiers.org/clinvar/228942 ^@ NM_016239.3(MYO15A):c.10181C>T (p.Ala3394Val) http://identifiers.org/clinvar/227511 ^@ NM_144612.6(LOXHD1):c.1788A>G (p.Thr596=) http://identifiers.org/clinvar/228292 ^@ NC_000019.10:g.(?_36003337)_(36008681_?)del http://identifiers.org/clinvar/226520 ^@ NM_006012.2(CLPP):c.405G>A (p.Thr135=) http://identifiers.org/clinvar/228542 ^@ NM_000395.2(CSF2RB):c.673C>T (p.Arg225Cys) http://identifiers.org/clinvar/228042 ^@ NM_001039141.2(TRIOBP):c.6771G>A (p.Gln2257=) http://identifiers.org/clinvar/227311 ^@ NM_004006.2(DMD):c.7660+15A>G http://identifiers.org/clinvar/228592 ^@ NM_004006.2(DMD):c.5476G>C (p.Glu1826Gln) http://identifiers.org/clinvar/230233 ^@ NM_007194.3(CHEK2):c.1399_1401delTTG (p.Leu467del) http://identifiers.org/clinvar/231683 ^@ NM_003001.3(SDHC):c.81T>C (p.Ala27=) http://identifiers.org/clinvar/229983 ^@ NM_000465.3(BARD1):c.2160C>T (p.Val720=) http://identifiers.org/clinvar/232723 ^@ NM_000465.3(BARD1):c.36G>A (p.Pro12=) http://identifiers.org/clinvar/230783 ^@ NM_000251.2(MSH2):c.756G>C (p.Gln252His) http://identifiers.org/clinvar/233123 ^@ NM_000251.2(MSH2):c.1242A>T (p.Leu414=) http://identifiers.org/clinvar/229933 ^@ NM_000251.2(MSH2):c.2447A>G (p.Gln816Arg) http://identifiers.org/clinvar/233623 ^@ NM_000179.2(MSH6):c.873C>T (p.Asn291=) http://identifiers.org/clinvar/231233 ^@ NM_000551.3(VHL):c.175C>T (p.Pro59Ser) http://identifiers.org/clinvar/233273 ^@ NM_000249.3(MLH1):c.43G>A (p.Val15Met) http://identifiers.org/clinvar/233523 ^@ NM_000249.3(MLH1):c.2041G>C (p.Ala681Pro) http://identifiers.org/clinvar/230133 ^@ NM_000038.5(APC):c.74A>G (p.Gln25Arg) http://identifiers.org/clinvar/233073 ^@ NM_000038.5(APC):c.3860T>C (p.Ile1287Thr) http://identifiers.org/clinvar/264158 ^@ NM_000138.4(FBN1):c.1129T>C (p.Cys377Arg) http://identifiers.org/clinvar/264375 ^@ NM_005477.2(HCN4):c.2700C>A (p.Ala900=) http://identifiers.org/clinvar/264108 ^@ NM_017636.3(TRPM4):c.2934T>C (p.Ile978=) http://identifiers.org/clinvar/263808 ^@ NM_000071.2(CBS):c.548C>T (p.Ala183Val) http://identifiers.org/clinvar/263858 ^@ NM_000071.2(CBS):c.52C>T (p.Arg18Cys) http://identifiers.org/clinvar/263958 ^@ NM_005120.2(MED12):c.6201A>G (p.Gln2067=) http://identifiers.org/clinvar/265494 ^@ NM_001271208.1(NEB):c.12018+1G>A http://identifiers.org/clinvar/265645 ^@ NM_000393.4(COL5A2):c.2627G>A (p.Gly876Glu) http://identifiers.org/clinvar/265695 ^@ NM_015265.3(SATB2):c.1515delT (p.Phe505Leufs) http://identifiers.org/clinvar/265294 ^@ NM_025216.2(WNT10A):c.803C>G (p.Ser268Ter) http://identifiers.org/clinvar/265444 ^@ NM_005943.5(MOCS1):c.1102+1G>A http://identifiers.org/clinvar/265394 ^@ NM_000501.3(ELN):c.450C>A (p.Tyr150Ter) http://identifiers.org/clinvar/265344 ^@ NM_003383.4(VLDLR):c.1586G>A (p.Trp529Ter) http://identifiers.org/clinvar/265243 ^@ NM_006077.3(MICU1):c.553C>T (p.Gln185Ter) http://identifiers.org/clinvar/265139 ^@ NM_000043.5(FAS):c.443+1G>A http://identifiers.org/clinvar/265544 ^@ NM_024675.3(PALB2):c.2835-2A>C http://identifiers.org/clinvar/265190 ^@ NM_000833.4(GRIN2A):c.3898A>G (p.Arg1300Gly) http://identifiers.org/clinvar/265595 ^@ NM_001396.3(DYRK1A):c.1125delA (p.Val376Phefs) http://identifiers.org/clinvar/265089 ^@ NM_000397.3(CYBB):c.469C>T (p.Arg157Ter) http://identifiers.org/clinvar/265784 ^@ NR_033294.1(SNORD118):n.-54_-49del http://identifiers.org/clinvar/265934 ^@ NM_174936.3(PCSK9):c.799+26C>T http://identifiers.org/clinvar/265884 ^@ NM_000384.2(APOB):c.3425C>T (p.Ser1142Leu) http://identifiers.org/clinvar/265989 ^@ NM_000548.4(TSC2):c.3695C>T (p.Ser1232Phe) http://identifiers.org/clinvar/266040 ^@ NM_000500.7(CYP21A2):c.158_159delCT (p.Gln54Glufs) http://identifiers.org/clinvar/266116 ^@ NM_020366.3(RPGRIP1):c.900_906+14del21 http://identifiers.org/clinvar/266616 ^@ NM_000059.3(BRCA2):c.1225delGinsTTT (p.Glu409Phefs) http://identifiers.org/clinvar/266666 ^@ NM_000059.3(BRCA2):c.1888delA (p.Thr630Hisfs) http://identifiers.org/clinvar/266516 ^@ NM_007294.3(BRCA1):c.5038_5041dupATTA (p.Thr1681Asnfs) http://identifiers.org/clinvar/266466 ^@ NM_007294.3(BRCA1):c.4285dupT (p.Tyr1429Leufs) http://identifiers.org/clinvar/266416 ^@ NM_007294.3(BRCA1):c.3908_3909dupTG (p.Glu1304Trpfs) http://identifiers.org/clinvar/266366 ^@ NM_007294.3(BRCA1):c.3396delC (p.Leu1133Terfs) http://identifiers.org/clinvar/266316 ^@ NM_007294.3(BRCA1):c.2890G>T (p.Gly964Ter) http://identifiers.org/clinvar/266266 ^@ NM_007294.3(BRCA1):c.2477_2492del16insTG (p.Thr826Metfs) http://identifiers.org/clinvar/266216 ^@ NM_007294.3(BRCA1):c.2086dupA (p.Thr696Asnfs) http://identifiers.org/clinvar/266166 ^@ NM_007294.3(BRCA1):c.1412dupT (p.Asn473Glnfs) http://identifiers.org/clinvar/266566 ^@ NM_007294.3(BRCA1):c.62_65delTCTT (p.Ile21Lysfs) http://identifiers.org/clinvar/290895 ^@ NM_004817.3(TJP2):c.705G>T (p.Arg235=) http://identifiers.org/clinvar/290945 ^@ NM_138694.3(PKHD1):c.642G>A (p.Gln214=) http://identifiers.org/clinvar/290995 ^@ NM_000806.5(GABRA1):c.75-4delT http://identifiers.org/clinvar/291045 ^@ NM_001146289.1(P3H1):c.1068C>T (p.Ile356=) http://identifiers.org/clinvar/291095 ^@ NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) http://identifiers.org/clinvar/291145 ^@ NM_001080442.2(SLC38A8):c.189+11G>T http://identifiers.org/clinvar/291196 ^@ NM_001206977.1(NR1H4):c.518T>C (p.Met173Thr) http://identifiers.org/clinvar/291246 ^@ NM_138694.3(PKHD1):c.2091G>A (p.Thr697=) http://identifiers.org/clinvar/291309 ^@ NM_000478.5(ALPL):c.1454C>T (p.Ala485Val) http://identifiers.org/clinvar/291411 ^@ NM_001918.3(DBT):c.*4446C>G http://identifiers.org/clinvar/291461 ^@ NM_015074.3(KIF1B):c.-80+1G>T http://identifiers.org/clinvar/291511 ^@ NM_001854.3(COL11A1):c.3789A>G (p.Pro1263=) http://identifiers.org/clinvar/291561 ^@ NM_001854.3(COL11A1):c.-258C>A http://identifiers.org/clinvar/291813 ^@ NM_006610.3(MASP2):c.93A>T (p.Ala31=) http://identifiers.org/clinvar/291863 ^@ NM_013319.2(UBIAD1):c.837C>T (p.Cys279=) http://identifiers.org/clinvar/292313 ^@ NM_006623.3(PHGDH):c.624T>C (p.Pro208=) http://identifiers.org/clinvar/292613 ^@ NM_000449.3(RFX5):c.984G>A (p.Arg328=) http://identifiers.org/clinvar/292413 ^@ NM_014874.3(MFN2):c.*1794_*1796delATT http://identifiers.org/clinvar/292563 ^@ NM_019032.5(ADAMTSL4):c.2944-8C>T http://identifiers.org/clinvar/292263 ^@ NM_000198.3(HSD3B2):c.625G>A (p.Gly209Arg) http://identifiers.org/clinvar/293113 ^@ NM_002241.4(KCNJ10):c.*237A>G http://identifiers.org/clinvar/292763 ^@ NM_001111.4(ADAR):c.2920A>G (p.Lys974Glu) http://identifiers.org/clinvar/292863 ^@ NM_022367.3(SEMA4A):c.*187G>A http://identifiers.org/clinvar/293313 ^@ NM_000530.7(MPZ):c.504G>A (p.Val168=) http://identifiers.org/clinvar/292363 ^@ NM_014874.3(MFN2):c.-344C>T http://identifiers.org/clinvar/292963 ^@ NM_003126.2(SPTA1):c.5808G>A (p.Lys1936=) http://identifiers.org/clinvar/292513 ^@ NM_019032.5(ADAMTSL4):c.-143C>T http://identifiers.org/clinvar/292463 ^@ NM_005267.4(GJA8):c.183C>T (p.Cys61=) http://identifiers.org/clinvar/293263 ^@ NM_004550.4(NDUFS2):c.-346G>A http://identifiers.org/clinvar/292663 ^@ NM_152263.3(TPM3):c.*2240C>T http://identifiers.org/clinvar/292713 ^@ NM_001111.4(ADAR):c.*2323_*2330dupCATGCCCC http://identifiers.org/clinvar/292913 ^@ NM_007272.2(CTRC):c.690G>A (p.Glu230=) http://identifiers.org/clinvar/293513 ^@ NM_006996.2(SLC19A2):c.*967A>G http://identifiers.org/clinvar/293713 ^@ NM_000261.1(MYOC):c.865G>A (p.Asp289Asn) http://identifiers.org/clinvar/293563 ^@ NM_000130.4(F5):c.*400C>G http://identifiers.org/clinvar/292813 ^@ NM_000298.5(PKLR):c.727G>A (p.Gly243Ser) http://identifiers.org/clinvar/293013 ^@ NM_003126.2(SPTA1):c.2484C>T (p.Ser828=) http://identifiers.org/clinvar/293163 ^@ NM_000702.3(ATP1A2):c.*1207G>T http://identifiers.org/clinvar/293063 ^@ NM_003126.2(SPTA1):c.-46_-41dupCTCTCT http://identifiers.org/clinvar/293213 ^@ NM_002857.3(PEX19):c.*934A>G http://identifiers.org/clinvar/293413 ^@ NM_004431.4(EPHA2):c.2116-6C>T http://identifiers.org/clinvar/293363 ^@ NM_003001.3(SDHC):c.*2052C>G http://identifiers.org/clinvar/294352 ^@ NM_003748.3(ALDH4A1):c.*464G>A http://identifiers.org/clinvar/294402 ^@ NM_003748.3(ALDH4A1):c.-73C>T http://identifiers.org/clinvar/294452 ^@ NM_024529.4(CDC73):c.*2651T>G http://identifiers.org/clinvar/293463 ^@ NM_005149.2(TBX19):c.603+45_603+48dupGTGT http://identifiers.org/clinvar/294552 ^@ NM_030787.3(CFHR5):c.1641G>A (p.Ala547=) http://identifiers.org/clinvar/294602 ^@ NM_018136.4(ASPM):c.9246T>C (p.Ser3082=) http://identifiers.org/clinvar/293613 ^@ NM_000130.4(F5):c.3255A>C (p.Thr1085=) http://identifiers.org/clinvar/294852 ^@ NM_001005337.2(PKP1):c.*709G>A http://identifiers.org/clinvar/293663 ^@ NM_152281.2(GORAB):c.*47T>G http://identifiers.org/clinvar/295002 ^@ NM_032409.2(PINK1):c.936G>A (p.Arg312=) http://identifiers.org/clinvar/294902 ^@ NM_003465.2(CHIT1):c.*534T>G http://identifiers.org/clinvar/343394 ^@ NM_153240.4(NPHP3):c.208C>T (p.Leu70=) http://identifiers.org/clinvar/344294 ^@ NM_145261.3(DNAJC19):c.*212C>T http://identifiers.org/clinvar/344344 ^@ NM_005787.5(ALG3):c.*152C>T http://identifiers.org/clinvar/343894 ^@ NM_005677.3(COLQ):c.-121_-118delGCAC http://identifiers.org/clinvar/344794 ^@ NM_000404.3(GLB1):c.376A>G (p.Ile126Val) http://identifiers.org/clinvar/344144 ^@ NM_000340.1(SLC2A2):c.*796T>C http://identifiers.org/clinvar/344244 ^@ NM_181426.1(CCDC39):c.*539C>A http://identifiers.org/clinvar/345683 ^@ NM_015175.2(NBEAL2):c.6866G>A (p.Arg2289Gln) http://identifiers.org/clinvar/337254 ^@ NM_000821.6(GGCX):c.*107T>G http://identifiers.org/clinvar/337304 ^@ NM_198843.2(SFTPB):c.816G>A (p.Thr272=) http://identifiers.org/clinvar/337154 ^@ NM_003849.3(SUCLG1):c.959G>A (p.Ser320Asn) http://identifiers.org/clinvar/345883 ^@ NM_000094.3(COL7A1):c.724G>A (p.Glu242Lys) http://identifiers.org/clinvar/345933 ^@ NM_000387.5(SLC25A20):c.*577delT http://identifiers.org/clinvar/345983 ^@ NM_002292.3(LAMB2):c.4007C>T (p.Ala1336Val) http://identifiers.org/clinvar/337604 ^@ NM_020184.3(CNNM4):c.*1045T>C http://identifiers.org/clinvar/346583 ^@ NM_032682.5(FOXP1):c.*2682A>G http://identifiers.org/clinvar/346633 ^@ NM_032682.5(FOXP1):c.*479_*480delCT http://identifiers.org/clinvar/345633 ^@ NM_015175.2(NBEAL2):c.1975C>T (p.Arg659Trp) http://identifiers.org/clinvar/346833 ^@ NM_000306.3(POU1F1):c.*140A>T http://identifiers.org/clinvar/345783 ^@ NM_002222.5(ITPR1):c.7373-11C>T http://identifiers.org/clinvar/346033 ^@ NM_000481.3(AMT):c.503G>C (p.Arg168Thr) http://identifiers.org/clinvar/342944 ^@ NM_000373.3(UMPS):c.*868delT http://identifiers.org/clinvar/346283 ^@ NM_003392.4(WNT5A):c.-592G>T http://identifiers.org/clinvar/342994 ^@ NM_000373.3(UMPS):c.*3065C>T http://identifiers.org/clinvar/343044 ^@ NM_000373.3(UMPS):c.*5027A>G http://identifiers.org/clinvar/347722 ^@ NM_000901.4(NR3C2):c.2139T>C (p.Pro713=) http://identifiers.org/clinvar/346333 ^@ NM_001457.3(FLNB):c.3535G>A (p.Glu1179Lys) http://identifiers.org/clinvar/343144 ^@ NM_032638.4(GATA2):c.-46+13C>T http://identifiers.org/clinvar/343494 ^@ NM_024334.2(TMEM43):c.-190T>C http://identifiers.org/clinvar/346533 ^@ NM_000248.3(MITF):c.*2079A>C http://identifiers.org/clinvar/343594 ^@ NM_001184.3(ATR):c.6090G>A (p.Ala2030=) http://identifiers.org/clinvar/343444 ^@ NM_001063.3(TF):c.1572G>C (p.Leu524=) http://identifiers.org/clinvar/348172 ^@ NM_000860.5(HPGD):c.*1584A>G http://identifiers.org/clinvar/346683 ^@ NM_002942.4(ROBO2):c.1060-10G>A http://identifiers.org/clinvar/343644 ^@ NM_000935.2(PLOD2):c.2058+14T>C http://identifiers.org/clinvar/343694 ^@ NM_032383.4(HPS3):c.716T>G (p.Ile239Ser) http://identifiers.org/clinvar/348222 ^@ NM_000027.3(AGA):c.*220G>C http://identifiers.org/clinvar/343544 ^@ NM_024334.2(TMEM43):c.*1809T>A http://identifiers.org/clinvar/343794 ^@ NM_000096.3(CP):c.-199C>G http://identifiers.org/clinvar/361938 ^@ NM_003235.4(TG):c.3098C>T (p.Ala1033Val) http://identifiers.org/clinvar/353810 ^@ NM_002203.3(ITGA2):c.*1818_*1819insTTGGC http://identifiers.org/clinvar/354060 ^@ NM_017755.5(NSUN2):c.510G>A (p.Leu170=) http://identifiers.org/clinvar/354110 ^@ NM_022132.4(MCCC2):c.*565C>A http://identifiers.org/clinvar/354260 ^@ NM_000046.3(ARSB):c.*3152A>G http://identifiers.org/clinvar/358889 ^@ NM_018718.2(CEP41):c.*4659C>G http://identifiers.org/clinvar/354410 ^@ NM_004385.4(VCAN):c.2943A>T (p.Thr981=) http://identifiers.org/clinvar/354510 ^@ NM_002890.2(RASA1):c.407C>T (p.Pro136Leu) http://identifiers.org/clinvar/354560 ^@ NM_002397.4(MEF2C):c.*3045C>T http://identifiers.org/clinvar/354610 ^@ NM_000439.4(PCSK1):c.*2166C>T http://identifiers.org/clinvar/354660 ^@ NM_005068.2(SIM1):c.*1484T>C http://identifiers.org/clinvar/354810 ^@ NM_007214.4(SEC63):c.*3705T>G http://identifiers.org/clinvar/359239 ^@ NM_014141.5(CNTNAP2):c.*2903T>A http://identifiers.org/clinvar/359289 ^@ NM_004456.4(EZH2):c.87C>T (p.Leu29=) http://identifiers.org/clinvar/354760 ^@ NM_020381.3(PDSS2):c.*655T>C http://identifiers.org/clinvar/354960 ^@ NM_014028.3(OSTM1):c.*1427A>G http://identifiers.org/clinvar/355010 ^@ NM_004752.3(GCM2):c.961G>A (p.Glu321Lys) http://identifiers.org/clinvar/355650 ^@ NM_003764.3(STX11):c.*3336T>C http://identifiers.org/clinvar/364687 ^@ NM_015404.3(WHRN):c.1626+8T>G http://identifiers.org/clinvar/355900 ^@ NM_033071.3(SYNE1):c.8360T>C (p.Leu2787Pro) http://identifiers.org/clinvar/356450 ^@ NM_021922.2(FANCE):c.1007T>C (p.Leu336Pro) http://identifiers.org/clinvar/365237 ^@ NM_000113.2(TOR1A):c.-36C>T http://identifiers.org/clinvar/356600 ^@ NM_005943.5(MOCS1):c.*2213C>T http://identifiers.org/clinvar/356650 ^@ NM_005943.5(MOCS1):c.*139A>G http://identifiers.org/clinvar/356350 ^@ NM_006929.4(SKIV2L):c.3430C>T (p.Arg1144Trp) http://identifiers.org/clinvar/356400 ^@ NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) http://identifiers.org/clinvar/365587 ^@ NM_014694.3(ADAMTSL2):c.1006G>A (p.Glu336Lys) http://identifiers.org/clinvar/356750 ^@ NM_000322.4(PRPH2):c.*1357C>T http://identifiers.org/clinvar/365637 ^@ NM_000787.3(DBH):c.486+13C>T http://identifiers.org/clinvar/357000 ^@ NM_006502.2(POLH):c.*4633C>T http://identifiers.org/clinvar/361688 ^@ NM_002546.3(TNFRSF11B):c.1150T>C (p.Leu384=) http://identifiers.org/clinvar/357200 ^@ NM_012120.2(CD2AP):c.*495_*496insGTGTAT http://identifiers.org/clinvar/361788 ^@ NM_004519.3(KCNQ3):c.*5704C>T http://identifiers.org/clinvar/357050 ^@ NM_020745.3(AARS2):c.*341G>A http://identifiers.org/clinvar/357100 ^@ NM_001024630.3(RUNX2):c.*318C>T http://identifiers.org/clinvar/367177 ^@ NM_000170.2(GLDC):c.2683A>G (p.Met895Val) http://identifiers.org/clinvar/367227 ^@ NM_004817.3(TJP2):c.2384C>T (p.Pro795Leu) http://identifiers.org/clinvar/366877 ^@ NM_016042.3(EXOSC3):c.*118G>T http://identifiers.org/clinvar/367456 ^@ NM_058179.3(PSAT1):c.398-14G>A http://identifiers.org/clinvar/311567 ^@ NM_014363.5(SACS):c.1081A>G (p.Lys361Glu) http://identifiers.org/clinvar/367506 ^@ NM_004560.3(ROR2):c.1416G>A (p.Ala472=) http://identifiers.org/clinvar/312017 ^@ NM_207361.5(FREM2):c.7520-5delT http://identifiers.org/clinvar/367277 ^@ NM_017662.4(TRPM6):c.*886C>T http://identifiers.org/clinvar/312067 ^@ NM_207361.5(FREM2):c.*2266C>G http://identifiers.org/clinvar/312267 ^@ NM_003850.2(SUCLA2):c.817G>A (p.Ala273Thr) http://identifiers.org/clinvar/367606 ^@ NM_000136.2(FANCC):c.*143A>G http://identifiers.org/clinvar/312956 ^@ NM_001099274.1(TINF2):c.74G>C (p.Gly25Ala) http://identifiers.org/clinvar/299180 ^@ NM_000274.3(OAT):c.-60C>T http://identifiers.org/clinvar/304818 ^@ NM_000506.4(F2):c.1541A>G (p.Asn514Ser) http://identifiers.org/clinvar/304868 ^@ NM_002334.3(LRP4):c.3699+5G>C http://identifiers.org/clinvar/299430 ^@ NM_001081.3(CUBN):c.7001-4G>A http://identifiers.org/clinvar/305018 ^@ NM_000062.2(SERPING1):c.117C>G (p.Asp39Glu) http://identifiers.org/clinvar/313706 ^@ NM_000347.5(SPTB):c.5810C>G (p.Ser1937Cys) http://identifiers.org/clinvar/313756 ^@ NM_000347.5(SPTB):c.1866G>A (p.Leu622=) http://identifiers.org/clinvar/299130 ^@ NM_001609.3(ACADSB):c.*2227A>G http://identifiers.org/clinvar/314006 ^@ NM_000021.3(PSEN1):c.*4078C>T http://identifiers.org/clinvar/314056 ^@ NM_031427.3(DNAL1):c.*2113G>C http://identifiers.org/clinvar/314106 ^@ NM_031427.3(DNAL1):c.*5756C>T http://identifiers.org/clinvar/299780 ^@ NM_032844.4(MASTL):c.-199G>C http://identifiers.org/clinvar/305420 ^@ NM_053054.3(CATSPER1):c.2064+6G>A http://identifiers.org/clinvar/299880 ^@ NM_021252.4(RAB18):c.*3927A>G http://identifiers.org/clinvar/305470 ^@ NM_024649.4(BBS1):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/299530 ^@ NM_001081.3(CUBN):c.1036G>C (p.Val346Leu) http://identifiers.org/clinvar/305670 ^@ NM_145200.3(CABP4):c.*683A>G http://identifiers.org/clinvar/300130 ^@ NM_000242.2(MBL2):c.*1287C>T http://identifiers.org/clinvar/305820 ^@ NM_006019.3(TCIRG1):c.2285_2290dupTGGGCC (p.Gly763_Arg764insLeuGly) http://identifiers.org/clinvar/299730 ^@ NM_014915.2(ANKRD26):c.4284A>C (p.Gln1428His) http://identifiers.org/clinvar/306020 ^@ NM_001145308.4(LRTOMT):c.*1788C>G http://identifiers.org/clinvar/299830 ^@ NM_021252.4(RAB18):c.*402T>C http://identifiers.org/clinvar/306233 ^@ NM_024698.5(SLC25A22):c.*1153C>T http://identifiers.org/clinvar/299930 ^@ NM_020975.4(RET):c.*1337A>T http://identifiers.org/clinvar/299980 ^@ NM_002900.2(RBP3):c.1742T>A (p.Leu581Gln) http://identifiers.org/clinvar/306334 ^@ NM_012193.3(FZD4):c.*4678A>G http://identifiers.org/clinvar/306484 ^@ NM_005591.3(MRE11):c.*447T>G http://identifiers.org/clinvar/300780 ^@ NM_014000.2(VCL):c.-62T>G http://identifiers.org/clinvar/311067 ^@ NM_001845.5(COL4A1):c.994G>C (p.Gly332Arg) http://identifiers.org/clinvar/311117 ^@ NM_001846.3(COL4A2):c.1008C>T (p.Pro336=) http://identifiers.org/clinvar/317706 ^@ NM_000246.3(CIITA):c.2286C>A (p.Ile762=) http://identifiers.org/clinvar/311317 ^@ NM_021954.3(GJA3):c.*691G>A http://identifiers.org/clinvar/317956 ^@ NM_001287.5(CLCN7):c.729C>T (p.Ala243=) http://identifiers.org/clinvar/318056 ^@ NM_014714.3(IFT140):c.2454C>T (p.Asp818=) http://identifiers.org/clinvar/311467 ^@ NM_002010.2(FGF9):c.*2363A>G http://identifiers.org/clinvar/329778 ^@ NM_000554.5(CRX):c.*2952G>A http://identifiers.org/clinvar/329878 ^@ NM_030973.3(MED25):c.234C>G (p.Pro78=) http://identifiers.org/clinvar/318258 ^@ NM_004970.2(IGFALS):c.593A>T (p.Glu198Val) http://identifiers.org/clinvar/329978 ^@ NM_030657.3(LIM2):c.40G>A (p.Val14Met) http://identifiers.org/clinvar/330028 ^@ NM_144687.3(NLRP12):c.2044G>A (p.Ala682Thr) http://identifiers.org/clinvar/311867 ^@ NM_001127217.2(SMAD9):c.*970G>A http://identifiers.org/clinvar/311917 ^@ NM_001127217.2(SMAD9):c.-261_-256delCGCTGC http://identifiers.org/clinvar/330378 ^@ NM_000208.3(INSR):c.*2820G>A http://identifiers.org/clinvar/330428 ^@ NM_000208.3(INSR):c.*352_*355dupTTTT http://identifiers.org/clinvar/318897 ^@ NM_006662.2(SRCAP):c.7523C>T (p.Pro2508Leu) http://identifiers.org/clinvar/312167 ^@ NM_014252.3(SLC25A15):c.-304C>G http://identifiers.org/clinvar/319047 ^@ NM_004960.3(FUS):c.*2988C>T http://identifiers.org/clinvar/319197 ^@ NM_032444.2(SLX4):c.-271G>A http://identifiers.org/clinvar/319247 ^@ NM_032575.2(GLIS2):c.*881C>T http://identifiers.org/clinvar/310967 ^@ NM_002312.3(LIG4):c.*129A>G http://identifiers.org/clinvar/311167 ^@ NM_001846.3(COL4A2):c.3642C>T (p.Asp1214=) http://identifiers.org/clinvar/311417 ^@ NM_002010.2(FGF9):c.-118_-117insC http://identifiers.org/clinvar/320148 ^@ NM_004614.4(TK2):c.*809C>T http://identifiers.org/clinvar/313156 ^@ NM_006194.3(PAX9):c.-394+15G>C http://identifiers.org/clinvar/311667 ^@ NM_000059.3(BRCA2):c.*345A>G http://identifiers.org/clinvar/313256 ^@ NM_002408.3(MGAT2):c.360G>A (p.Leu120=) http://identifiers.org/clinvar/311767 ^@ NM_015087.4(SPG20):c.1414G>T (p.Ala472Ser) http://identifiers.org/clinvar/311817 ^@ NM_001127217.2(SMAD9):c.*3572_*3575delCACA http://identifiers.org/clinvar/311967 ^@ NM_207361.5(FREM2):c.3753C>T (p.Ser1251=) http://identifiers.org/clinvar/313556 ^@ NM_182914.2(SYNE2):c.11016T>C (p.Asp3672=) http://identifiers.org/clinvar/313806 ^@ NM_002382.4(MAX):c.*405G>A http://identifiers.org/clinvar/312217 ^@ NM_014252.3(SLC25A15):c.*2328G>T http://identifiers.org/clinvar/313906 ^@ NM_015346.3(ZFYVE26):c.3754C>T (p.Arg1252Cys) http://identifiers.org/clinvar/312317 ^@ NM_000321.2(RB1):c.*1540A>G http://identifiers.org/clinvar/312417 ^@ NM_001004127.2(ALG11):c.*148A>T http://identifiers.org/clinvar/328289 ^@ NM_006397.2(RNASEH2A):c.285G>A (p.Val95=) http://identifiers.org/clinvar/342205 ^@ NM_000487.5(ARSA):c.*1351C>G http://identifiers.org/clinvar/328389 ^@ NM_000435.2(NOTCH3):c.4092G>A (p.Ala1364=) http://identifiers.org/clinvar/367706 ^@ NM_002764.3(PRPS1):c.*178G>A http://identifiers.org/clinvar/328539 ^@ NM_000453.2(SLC5A5):c.1314G>A (p.Pro438=) http://identifiers.org/clinvar/368156 ^@ NM_000444.5(PHEX):c.-33C>T http://identifiers.org/clinvar/329328 ^@ NM_003573.2(LTBP4):c.4123C>G (p.Pro1375Ala) http://identifiers.org/clinvar/329828 ^@ NM_002103.4(GYS1):c.300G>A (p.Lys100=) http://identifiers.org/clinvar/328089 ^@ NM_000527.4(LDLR):c.*1235_*1237delCTA http://identifiers.org/clinvar/328139 ^@ NM_000121.3(EPOR):c.1428C>T (p.Ala476=) http://identifiers.org/clinvar/330178 ^@ NM_206828.3(NLRP7):c.749T>G (p.Phe250Cys) http://identifiers.org/clinvar/330228 ^@ NM_001015878.1(AURKC):c.184C>T (p.Leu62Phe) http://identifiers.org/clinvar/328439 ^@ NM_173483.3(CYP4F22):c.873C>T (p.Ala291=) http://identifiers.org/clinvar/330478 ^@ NM_000208.3(INSR):c.618C>T (p.Val206=) http://identifiers.org/clinvar/330528 ^@ NM_006702.4(PNPLA6):c.2413C>G (p.Leu805Val) http://identifiers.org/clinvar/329428 ^@ NM_152296.4(ATP1A3):c.288C>T (p.Ile96=) http://identifiers.org/clinvar/329928 ^@ NM_024729.3(MYH14):c.3084C>G (p.Phe1028Leu) http://identifiers.org/clinvar/330128 ^@ NM_024075.4(TSEN34):c.397G>C (p.Ala133Pro) http://identifiers.org/clinvar/340955 ^@ NM_004076.4(CRYBB3):c.506G>A (p.Arg169His) http://identifiers.org/clinvar/341155 ^@ NM_000268.3(NF2):c.*2803C>A http://identifiers.org/clinvar/341455 ^@ NM_004737.5(LARGE1):c.-518G>A http://identifiers.org/clinvar/341605 ^@ NM_153609.3(TMPRSS6):c.154C>T (p.Arg52Cys) http://identifiers.org/clinvar/341655 ^@ NM_000026.3(ADSL):c.-35G>T http://identifiers.org/clinvar/341905 ^@ NM_000262.2(NAGA):c.993G>T (p.Leu331=) http://identifiers.org/clinvar/378769 ^@ NM_000368.4(TSC1):c.3405A>G (p.Leu1135=) http://identifiers.org/clinvar/381512 ^@ NM_000368.4(TSC1):c.1263+15G>A http://identifiers.org/clinvar/384907 ^@ NM_000093.4(COL5A1):c.5313C>T (p.Asp1771=) http://identifiers.org/clinvar/389835 ^@ NM_001128227.2(GNE):c.858C>T (p.Asp286=) http://identifiers.org/clinvar/390285 ^@ NM_203447.3(DOCK8):c.2970+16G>A http://identifiers.org/clinvar/386696 ^@ NM_000051.3(ATM):c.-30-17A>G http://identifiers.org/clinvar/389785 ^@ NM_001003800.1(BICD2):c.-32C>T http://identifiers.org/clinvar/379219 ^@ NM_000264.3(PTCH1):c.2437C>G (p.Pro813Ala) http://identifiers.org/clinvar/379619 ^@ NM_000256.3(MYBPC3):c.1351+1G>C http://identifiers.org/clinvar/387196 ^@ NM_032667.6(BSCL2):c.429T>C (p.Ser143=) http://identifiers.org/clinvar/389485 ^@ NM_006096.3(NDRG1):c.808-6G>T http://identifiers.org/clinvar/390435 ^@ NM_004281.3(BAG3):c.1639A>C (p.Thr547Pro) http://identifiers.org/clinvar/381412 ^@ NM_004092.3(ECHS1):c.9C>T (p.Ala3=) http://identifiers.org/clinvar/386057 ^@ NM_006393.2(NEBL):c.48A>G (p.Glu16=) http://identifiers.org/clinvar/387596 ^@ NM_020987.4(ANK3):c.12656C>G (p.Thr4219Ser) http://identifiers.org/clinvar/384657 ^@ NM_000314.6(PTEN):c.80-11A>G http://identifiers.org/clinvar/385457 ^@ NM_000051.3(ATM):c.5430T>G (p.Thr1810=) http://identifiers.org/clinvar/385257 ^@ NM_006231.3(POLE):c.1687-13A>G http://identifiers.org/clinvar/384707 ^@ NM_152264.4(SLC39A13):c.573G>A (p.Ala191=) http://identifiers.org/clinvar/381712 ^@ NM_032667.6(BSCL2):c.825A>G (p.Arg275=) http://identifiers.org/clinvar/389635 ^@ NM_001876.3(CPT1A):c.694-10C>T http://identifiers.org/clinvar/390085 ^@ NM_024537.3(CARS2):c.1074C>T (p.Ser358=) http://identifiers.org/clinvar/387446 ^@ NM_000059.3(BRCA2):c.-60A>G http://identifiers.org/clinvar/383405 ^@ NM_020822.2(KCNT1):c.3606C>T (p.Asp1202=) http://identifiers.org/clinvar/389885 ^@ NM_020297.3(ABCC9):c.4188A>G (p.Pro1396=) http://identifiers.org/clinvar/384957 ^@ NM_032634.3(PIGO):c.900G>A (p.Leu300=) http://identifiers.org/clinvar/385407 ^@ NM_000289.5(PFKM):c.1063-19C>T http://identifiers.org/clinvar/385807 ^@ NM_001698.2(AUH):c.263-11C>T http://identifiers.org/clinvar/390235 ^@ NM_000814.5(GABRB3):c.1005C>G (p.Gly335=) http://identifiers.org/clinvar/386846 ^@ NM_000059.3(BRCA2):c.6937+16T>C http://identifiers.org/clinvar/379519 ^@ NM_000138.4(FBN1):c.6379+2T>C http://identifiers.org/clinvar/381612 ^@ NM_000138.4(FBN1):c.1481G>A (p.Cys494Tyr) http://identifiers.org/clinvar/387896 ^@ NM_000059.3(BRCA2):c.9118-3T>C http://identifiers.org/clinvar/381362 ^@ NM_000051.3(ATM):c.8934T>C (p.Thr2978=) http://identifiers.org/clinvar/389585 ^@ NM_018400.3(SCN3B):c.489C>T (p.Tyr163=) http://identifiers.org/clinvar/387746 ^@ NM_005050.3(ABCD4):c.756G>A (p.Arg252=) http://identifiers.org/clinvar/381863 ^@ NM_024678.5(NARS2):c.1262+6G>A http://identifiers.org/clinvar/381212 ^@ NM_000293.2(PHKB):c.1972-7G>A http://identifiers.org/clinvar/390635 ^@ NM_020778.4(ALPK3):c.3280G>A (p.Gly1094Arg) http://identifiers.org/clinvar/381762 ^@ NM_006231.3(POLE):c.3912C>T (p.Pro1304=) http://identifiers.org/clinvar/387996 ^@ NM_000548.4(TSC2):c.3086T>C (p.Met1029Thr) http://identifiers.org/clinvar/48213 ^@ NM_194248.2(OTOF):c.3076A>T (p.Arg1026Trp) http://identifiers.org/clinvar/48263 ^@ NM_194248.2(OTOF):c.5566C>T (p.Arg1856Trp) http://identifiers.org/clinvar/143 ^@ NM_033409.3(SLC52A3):c.106G>A (p.Glu36Lys) http://identifiers.org/clinvar/405 ^@ NM_000353.2(TAT):c.1085G>T (p.Gly362Val) http://identifiers.org/clinvar/437 ^@ NM_000110.3(DPYD):c.2657G>A (p.Arg886His) http://identifiers.org/clinvar/446 ^@ NM_133459.3(CCBE1):c.305G>C (p.Cys102Ser) http://identifiers.org/clinvar/527 ^@ NM_001999.3(FBN2):c.3759T>G (p.Cys1253Trp) http://identifiers.org/clinvar/564 ^@ NM_018344.5(SLC29A3):c.1330G>T (p.Glu444Ter) http://identifiers.org/clinvar/906 ^@ NM_000181.3(GUSB):c.1050G>C (p.Lys350Asn) http://identifiers.org/clinvar/939 ^@ NM_000404.3(GLB1):c.622C>T (p.Arg208Cys) http://identifiers.org/clinvar/1038 ^@ NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro) http://identifiers.org/clinvar/1043 ^@ FA2H, IVS5DS, G-A, +1 http://identifiers.org/clinvar/1153 ^@ PFKM, IVS6AS, A-C, -2 http://identifiers.org/clinvar/1243 ^@ NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) http://identifiers.org/clinvar/1294 ^@ NM_018006.4(TRMU):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/1339 ^@ NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) http://identifiers.org/clinvar/1384 ^@ NM_001142301.1(TMEM67):c.626G>T (p.Trp209Leu) http://identifiers.org/clinvar/1475 ^@ HMBS, IVS12DS, G-C, +1 http://identifiers.org/clinvar/1520 ^@ LPL, INS http://identifiers.org/clinvar/1566 ^@ NM_000263.3(NAGLU):c.1562C>T (p.Pro521Leu) http://identifiers.org/clinvar/1610 ^@ NM_024884.2(L2HGDH):c.164G>A (p.Gly55Asp) http://identifiers.org/clinvar/1660 ^@ NM_000785.3(CYP27B1):c.1004G>C (p.Arg335Pro) http://identifiers.org/clinvar/1705 ^@ ERCC6, 4-BP INS, 1053TGTC http://identifiers.org/clinvar/1801 ^@ NM_000102.3(CYP17A1):c.81C>A (p.Tyr27Ter) http://identifiers.org/clinvar/1847 ^@ NM_138701.3(MPLKIP):c.277delT (p.Ser93Profs) http://identifiers.org/clinvar/1892 ^@ NM_015488.4(PNKD):c.26C>T (p.Ala9Val) http://identifiers.org/clinvar/1937 ^@ NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) http://identifiers.org/clinvar/1982 ^@ NM_000022.3(ADA):c.1079-15T>A http://identifiers.org/clinvar/2026 ^@ CHD7, TRP2332TER http://identifiers.org/clinvar/2071 ^@ NM_020435.3(GJC2):c.857T>C (p.Met286Thr) http://identifiers.org/clinvar/2117 ^@ AJ298105.1:g.61273_107768del46496ins6086 http://identifiers.org/clinvar/2345 ^@ NM_016341.3(PLCE1):c.1477C>T (p.Arg493Ter) http://identifiers.org/clinvar/2391 ^@ NM_000045.3(ARG1):c.703G>C (p.Gly235Arg) http://identifiers.org/clinvar/2436 ^@ NM_001173464.1(KIF21A):c.2860C>T (p.Arg954Trp) http://identifiers.org/clinvar/2481 ^@ NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) http://identifiers.org/clinvar/2528 ^@ NM_144596.3(TTC8):c.589_594delGAGTAT (p.Glu197_Tyr198del) http://identifiers.org/clinvar/3308 ^@ NM_000383.3(AIRE):c.247A>G (p.Lys83Glu) http://identifiers.org/clinvar/3353 ^@ NM_004698.2(PRPF3):c.1477C>T (p.Pro493Ser) http://identifiers.org/clinvar/10152 ^@ NM_000132.3(F8):c.43C>T (p.Arg15Ter) http://identifiers.org/clinvar/10198 ^@ NM_000132.3(F8):c.943delG (p.Ala315Leufs) http://identifiers.org/clinvar/10242 ^@ NM_000132.3(F8):c.1988C>T (p.Ala663Val) http://identifiers.org/clinvar/10288 ^@ NM_000132.3(F8):c.5600A>G (p.His1867Arg) http://identifiers.org/clinvar/10332 ^@ NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) http://identifiers.org/clinvar/10478 ^@ NM_000032.4(ALAS2):c.475G>T (p.Asp159Tyr) http://identifiers.org/clinvar/11100 ^@ TAZ, IVS2AS, G-A, -1 http://identifiers.org/clinvar/11146 ^@ NM_182680.1(AMELX):c.11G>C (p.Trp4Ser) http://identifiers.org/clinvar/11192 ^@ NM_139058.2(ARX):c.995G>A (p.Arg332His) http://identifiers.org/clinvar/11237 ^@ DMD, IVS2, G-T, -1 http://identifiers.org/clinvar/11282 ^@ NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter) http://identifiers.org/clinvar/11327 ^@ NM_018977.3(NLGN3):c.1351C>T (p.Arg451Cys) http://identifiers.org/clinvar/11373 ^@ NM_000061.2(BTK):c.1223T>C (p.Leu408Pro) http://identifiers.org/clinvar/11442 ^@ NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) http://identifiers.org/clinvar/11493 ^@ NM_006579.2(EBP):c.53T>C (p.Leu18Pro) http://identifiers.org/clinvar/12294 ^@ NM_007122.4(USF1):c.*187C>T http://identifiers.org/clinvar/12346 ^@ TNFRSF1A, CYS55ALA http://identifiers.org/clinvar/12397 ^@ NM_000548.4(TSC2):c.1832G>A (p.Arg611Gln) http://identifiers.org/clinvar/12449 ^@ NM_152263.3(TPM3):c.94C>T (p.Gln32Ter) http://identifiers.org/clinvar/12499 ^@ NM_000359.2(TGM1):c.919C>T (p.Arg307Trp) http://identifiers.org/clinvar/12549 ^@ THRB, 1-BP INS, 1627C http://identifiers.org/clinvar/12600 ^@ NM_005343.3(HRAS):c.35G>T (p.Gly12Val) http://identifiers.org/clinvar/12650 ^@ TTN, 2-BP INS, 43628AT http://identifiers.org/clinvar/12701 ^@ TG, IVS34, G-C, -1 http://identifiers.org/clinvar/12752 ^@ NM_198053.2(CD247):c.208_210delCAGinsTAT (p.Gln70Tyr) http://identifiers.org/clinvar/12802 ^@ NM_004959.4(NR5A1):c.271G>A (p.Gly91Ser) http://identifiers.org/clinvar/12852 ^@ NM_003126.2(SPTA1):c.121C>T (p.Arg41Trp) http://identifiers.org/clinvar/12903 ^@ NM_006920.4(SCN1A):c.4434G>C (p.Gln1478His) http://identifiers.org/clinvar/12953 ^@ NM_001161766.1(AHCY):c.344A>G (p.Tyr115Cys) http://identifiers.org/clinvar/13004 ^@ NM_021133.3(RNASEL):c.793G>T (p.Glu265Ter) http://identifiers.org/clinvar/13055 ^@ NM_000539.3(RHO):c.67C>G (p.Pro23Ala) http://identifiers.org/clinvar/13106 ^@ NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr) http://identifiers.org/clinvar/13156 ^@ NM_000448.2(RAG1):c.940C>T (p.Arg314Trp) http://identifiers.org/clinvar/13208 ^@ NM_003018.3(SFTPC):c.218T>C (p.Ile73Thr) http://identifiers.org/clinvar/13259 ^@ NM_004431.4(EPHA2):c.2819C>T (p.Thr940Ile) http://identifiers.org/clinvar/13310 ^@ NM_000506.4(F2):c.*97G>A http://identifiers.org/clinvar/13360 ^@ PTGER2, G-A POLYMORPHISM http://identifiers.org/clinvar/13414 ^@ NM_000311.4(PRNP):c.398C>T (p.Ala133Val) http://identifiers.org/clinvar/13466 ^@ NM_000371.3(TTR):c.265T>C (p.Tyr89His) http://identifiers.org/clinvar/13516 ^@ NM_002693.2(POLG):c.3218C>T (p.Pro1073Leu) http://identifiers.org/clinvar/36639 ^@ NM_000257.3(MYH7):c.3781A>C (p.Ser1261Arg) http://identifiers.org/clinvar/36691 ^@ NM_000535.6(PMS2):c.2570G>C (p.Gly857Ala) http://identifiers.org/clinvar/36744 ^@ NM_001035.2(RYR2):c.463+10T>C http://identifiers.org/clinvar/36795 ^@ NM_000545.6(HNF1A):c.1107+9C>G http://identifiers.org/clinvar/36845 ^@ NM_000458.3(HNF1B):c.221T>A (p.Leu74Ter) http://identifiers.org/clinvar/36896 ^@ NM_014000.2(VCL):c.2025G>A (p.Val675=) http://identifiers.org/clinvar/36965 ^@ NM_002501.3(NFIX):c.955+1G>T http://identifiers.org/clinvar/37069 ^@ NM_004960.3(FUS):c.1292C>T (p.Pro431Leu) http://identifiers.org/clinvar/37134 ^@ NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) http://identifiers.org/clinvar/37266 ^@ NM_182919.3(TICAM1):c.557C>T (p.Ser186Leu) http://identifiers.org/clinvar/37356 ^@ NM_000155.3(GALT):c.386T>C (p.Met129Thr) http://identifiers.org/clinvar/37421 ^@ NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) http://identifiers.org/clinvar/37473 ^@ NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) http://identifiers.org/clinvar/37531 ^@ NM_007294.3(BRCA1):c.3485delA (p.Asp1162Valfs) http://identifiers.org/clinvar/37584 ^@ NM_007294.3(BRCA1):c.4357+1G>A http://identifiers.org/clinvar/37636 ^@ NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) http://identifiers.org/clinvar/37692 ^@ NM_007294.3(BRCA1):c.670+8C>T http://identifiers.org/clinvar/37744 ^@ NM_000059.3(BRCA2):c.1513A>G (p.Ile505Val) http://identifiers.org/clinvar/37797 ^@ NM_000059.3(BRCA2):c.2693G>C (p.Arg898Thr) http://identifiers.org/clinvar/37849 ^@ NM_000059.3(BRCA2):c.3629A>C (p.Asp1210Ala) http://identifiers.org/clinvar/38162 ^@ NM_000059.3(BRCA2):c.8487+1G>T http://identifiers.org/clinvar/38212 ^@ NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) http://identifiers.org/clinvar/39602 ^@ NM_007332.2(TRPA1):c.2564A>G (p.Asn855Ser) http://identifiers.org/clinvar/39653 ^@ DNAI2, TRP453TER http://identifiers.org/clinvar/39705 ^@ NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) http://identifiers.org/clinvar/39756 ^@ NM_145239.2(PRRT2):c.748C>T (p.Gln250Ter) http://identifiers.org/clinvar/39806 ^@ NM_004055.4(CAPN5):c.728G>T (p.Arg243Leu) http://identifiers.org/clinvar/39857 ^@ NM_015295.2(SMCHD1):c.1608delA (p.Asp537Ilefs) http://identifiers.org/clinvar/40012 ^@ NM_001005216.3(OR2J3):c.677G>A (p.Arg226Gln) http://identifiers.org/clinvar/40187 ^@ NM_000108.4(DLD):c.1444A>G (p.Arg482Gly) http://identifiers.org/clinvar/40332 ^@ NM_004333.4(BRAF):c.-18C>G http://identifiers.org/clinvar/40404 ^@ NM_005188.3(CBL):c.1076_1087delACCATATCAAAG (p.Asp359_Lys362del) http://identifiers.org/clinvar/40472 ^@ NM_002524.4(NRAS):c.112-1_113dup http://identifiers.org/clinvar/40532 ^@ NM_002834.4(PTPN11):c.854-21C>T http://identifiers.org/clinvar/40593 ^@ NM_002880.3(RAF1):c.483T>G (p.Asn161Lys) http://identifiers.org/clinvar/40658 ^@ NM_005633.3(SOS1):c.688T>G (p.Phe230Val) http://identifiers.org/clinvar/40747 ^@ NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) http://identifiers.org/clinvar/40843 ^@ NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) http://identifiers.org/clinvar/41017 ^@ NM_000530.7(MPZ):c.244T>C (p.Tyr82His) http://identifiers.org/clinvar/41073 ^@ NM_003611.2(OFD1):c.1319delT (p.Leu440Glnfs) http://identifiers.org/clinvar/41129 ^@ NM_003611.2(OFD1):c.602delA (p.Asn201Metfs) http://identifiers.org/clinvar/41181 ^@ NM_003977.3(AIP):c.468+16G>T http://identifiers.org/clinvar/41239 ^@ NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) http://identifiers.org/clinvar/51141 ^@ NM_000059.3(BRCA2):c.1547delT (p.Phe516Serfs) http://identifiers.org/clinvar/51192 ^@ NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) http://identifiers.org/clinvar/51245 ^@ NM_000059.3(BRCA2):c.2119G>T (p.Asp707Tyr) http://identifiers.org/clinvar/51295 ^@ NM_000059.3(BRCA2):c.2471_2476delTAAATG (p.Leu824_Arg1160delinsTer) http://identifiers.org/clinvar/51346 ^@ NM_000059.3(BRCA2):c.2798C>G (p.Thr933Arg) http://identifiers.org/clinvar/51396 ^@ NM_000059.3(BRCA2):c.3085A>G (p.Met1029Val) http://identifiers.org/clinvar/51448 ^@ NM_000059.3(BRCA2):c.3310A>C (p.Thr1104Pro) http://identifiers.org/clinvar/51499 ^@ NM_000059.3(BRCA2):c.364delA (p.Thr122Leufs) http://identifiers.org/clinvar/51549 ^@ NM_000059.3(BRCA2):c.3866_3867delAA (p.Lys1289Metfs) http://identifiers.org/clinvar/51601 ^@ NM_000059.3(BRCA2):c.4130delA (p.Asn1377Thrfs) http://identifiers.org/clinvar/51653 ^@ NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) http://identifiers.org/clinvar/51705 ^@ NM_000059.3(BRCA2):c.4732T>G (p.Leu1578Val) http://identifiers.org/clinvar/51755 ^@ NM_000059.3(BRCA2):c.5014dupT (p.Tyr1672Leufs) http://identifiers.org/clinvar/51807 ^@ NM_000059.3(BRCA2):c.5180dupA (p.Asn1727Lysfs) http://identifiers.org/clinvar/51860 ^@ NM_000059.3(BRCA2):c.5428G>A (p.Val1810Ile) http://identifiers.org/clinvar/51912 ^@ NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) http://identifiers.org/clinvar/51964 ^@ NM_000059.3(BRCA2):c.5925T>A (p.Cys1975Ter) http://identifiers.org/clinvar/52015 ^@ NM_000059.3(BRCA2):c.610delC (p.Ser205Valfs) http://identifiers.org/clinvar/52066 ^@ NM_000059.3(BRCA2):c.6325_6326delGT (p.Val2109Terfs) http://identifiers.org/clinvar/52120 ^@ NM_000059.3(BRCA2):c.6527delA (p.Asn2176Thrfs) http://identifiers.org/clinvar/52171 ^@ NM_000059.3(BRCA2):c.6732delA (p.Lys2244Asnfs) http://identifiers.org/clinvar/52221 ^@ NM_000059.3(BRCA2):c.6936T>A (p.Asp2312Glu) http://identifiers.org/clinvar/52869 ^@ NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) http://identifiers.org/clinvar/52919 ^@ NM_000059.3(BRCA2):c.9925G>T (p.Glu3309Ter) http://identifiers.org/clinvar/52969 ^@ NM_000218.2(KCNQ1):c.1178A>T (p.Lys393Met) http://identifiers.org/clinvar/53019 ^@ NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) http://identifiers.org/clinvar/53069 ^@ NM_000218.2(KCNQ1):c.567dupG (p.Arg190Alafs) http://identifiers.org/clinvar/53120 ^@ NM_000218.2(KCNQ1):c.868G>A (p.Glu290Lys) http://identifiers.org/clinvar/53172 ^@ NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) http://identifiers.org/clinvar/53223 ^@ NM_000492.3(CFTR):c.1240_1244delCAAAA (p.Asn415Terfs) http://identifiers.org/clinvar/53275 ^@ NM_000492.3(CFTR):c.1516A>C (p.Ile506Leu) http://identifiers.org/clinvar/53376 ^@ NM_000492.3(CFTR):c.1766+1G>C http://identifiers.org/clinvar/53427 ^@ NM_000492.3(CFTR):c.2017G>T (p.Gly673Ter) http://identifiers.org/clinvar/53481 ^@ NM_000492.3(CFTR):c.235T>C (p.Trp79Arg) http://identifiers.org/clinvar/53531 ^@ NM_000492.3(CFTR):c.2634_2641delGGTTGTGC (p.Leu878Phefs) http://identifiers.org/clinvar/53581 ^@ NM_000492.3(CFTR):c.2859_2890del32 (p.Leu953Phefs) http://identifiers.org/clinvar/53632 ^@ NM_000492.3(CFTR):c.302T>C (p.Leu101Ser) http://identifiers.org/clinvar/53684 ^@ NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) http://identifiers.org/clinvar/53734 ^@ NM_000492.3(CFTR):c.340A>T (p.Lys114Ter) http://identifiers.org/clinvar/53785 ^@ NM_000492.3(CFTR):c.3634G>A (p.Val1212Ile) http://identifiers.org/clinvar/53838 ^@ NM_000492.3(CFTR):c.3883_3886delATTT (p.Ile1295Phefs) http://identifiers.org/clinvar/53889 ^@ NM_000492.3(CFTR):c.410T>A (p.Leu137His) http://identifiers.org/clinvar/56327 ^@ NM_001081.3(CUBN):c.250C>T (p.Gln84Ter) http://identifiers.org/clinvar/56803 ^@ NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) http://identifiers.org/clinvar/56996 ^@ GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 http://identifiers.org/clinvar/57050 ^@ NM_001007532.2(STH):c.(?_-369760)_*(662452_?)del http://identifiers.org/clinvar/57105 ^@ GRCh38/hg38 9p24.3(chr9:204193-266104)x3 http://identifiers.org/clinvar/57158 ^@ GRCh38/hg38 7q11.23(chr7:75065669-75704220)x1 http://identifiers.org/clinvar/57209 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/57262 ^@ GRCh38/hg38 9p24.2(chr9:2267812-2684272)x3 http://identifiers.org/clinvar/57315 ^@ GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3 http://identifiers.org/clinvar/57368 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 http://identifiers.org/clinvar/101186 ^@ NM_000090.3(COL3A1):c.3966delG (p.Lys1323Argfs) http://identifiers.org/clinvar/101236 ^@ NM_000090.3(COL3A1):c.674G>T (p.Gly225Val) http://identifiers.org/clinvar/101286 ^@ NM_000090.3(COL3A1):c.1870-2A>T (p.Gly624_Gln641del) http://identifiers.org/clinvar/101336 ^@ NM_000090.3(COL3A1):c.1861G>T (p.Gly621Trp) http://identifiers.org/clinvar/101386 ^@ NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser) http://identifiers.org/clinvar/101436 ^@ NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu) http://identifiers.org/clinvar/101486 ^@ NM_000090.3(COL3A1):c.2735G>A (p.Gly912Asp) http://identifiers.org/clinvar/102443 ^@ NM_001278503.1(STT3A):c.1877T>C (p.Val626Ala) http://identifiers.org/clinvar/102499 ^@ NM_000277.1(PAH):c.1056delT (p.Glu353Asnfs) http://identifiers.org/clinvar/102557 ^@ NM_000277.1(PAH):c.1199+1G>C http://identifiers.org/clinvar/102608 ^@ NM_000277.1(PAH):c.168+6T>G http://identifiers.org/clinvar/102663 ^@ NM_000277.1(PAH):c.398_401delATCA (p.Asn133Argfs) http://identifiers.org/clinvar/102714 ^@ NM_000277.1(PAH):c.510-6T>G http://identifiers.org/clinvar/102764 ^@ NM_000277.1(PAH):c.619A>G (p.Asn207Asp) http://identifiers.org/clinvar/102815 ^@ NM_000277.1(PAH):c.739G>A (p.Gly247Ser) http://identifiers.org/clinvar/102865 ^@ NM_000277.1(PAH):c.838_842+3del8 http://identifiers.org/clinvar/102917 ^@ NM_000277.1(PAH):c.969A>G (p.Thr323=) http://identifiers.org/clinvar/102975 ^@ NM_001330552.1(NLRC5):c.-796C>G http://identifiers.org/clinvar/103025 ^@ NM_001033053.2(NLRP1):c.3759C>A (p.His1253Gln) http://identifiers.org/clinvar/103075 ^@ NM_001199138.1(NLRC4):c.1811A>G (p.Asn604Ser) http://identifiers.org/clinvar/126009 ^@ NM_000059.3(BRCA2):c.3396A>C (p.Lys1132Asn) http://identifiers.org/clinvar/126079 ^@ NM_000059.3(BRCA2):c.5768A>T (p.Asp1923Val) http://identifiers.org/clinvar/126494 ^@ NM_005654.5(NR2F1):c.339C>A (p.Ser113Arg) http://identifiers.org/clinvar/126575 ^@ NM_024675.3(PALB2):c.-25C>A http://identifiers.org/clinvar/126625 ^@ NM_024675.3(PALB2):c.1810C>T (p.Leu604=) http://identifiers.org/clinvar/126677 ^@ NM_024675.3(PALB2):c.2748+121T>C http://identifiers.org/clinvar/126727 ^@ NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) http://identifiers.org/clinvar/126778 ^@ NM_024675.3(PALB2):c.909C>T (p.Leu303=) http://identifiers.org/clinvar/126829 ^@ NM_000321.2(RB1):c.1107T>C (p.Ile369=) http://identifiers.org/clinvar/126883 ^@ NM_017545.2(HAO1):c.721+1617G>C http://identifiers.org/clinvar/126938 ^@ NM_001127464.2(ZNF469):c.2063C>A (p.Thr688Asn) http://identifiers.org/clinvar/126988 ^@ NM_000249.3(MLH1):c.1912G>A (p.Gly638Arg) http://identifiers.org/clinvar/127038 ^@ NM_020661.3(AICDA):c.405A>G (p.Gln135=) http://identifiers.org/clinvar/127095 ^@ NM_000856.5(GUCY1A3):c.1045C>T (p.Arg349Ter) http://identifiers.org/clinvar/127162 ^@ NM_001101.3(ACTB):c.209C>T (p.Pro70Leu) http://identifiers.org/clinvar/127261 ^@ NM_001127255.1(NLRP7):c.446A>G (p.Asp149Gly) http://identifiers.org/clinvar/127312 ^@ NM_000038.5(APC):c.646C>T (p.Arg216Ter) http://identifiers.org/clinvar/127362 ^@ NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) http://identifiers.org/clinvar/127412 ^@ NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) http://identifiers.org/clinvar/127462 ^@ NM_000051.3(ATM):c.8668C>G (p.Leu2890Val) http://identifiers.org/clinvar/127513 ^@ NM_000057.3(BLM):c.604A>G (p.Asn202Asp) http://identifiers.org/clinvar/127563 ^@ NM_000179.2(MSH6):c.1746T>G (p.Phe582Leu) http://identifiers.org/clinvar/127614 ^@ NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) http://identifiers.org/clinvar/127667 ^@ NM_000314.6(PTEN):c.-1311T>C http://identifiers.org/clinvar/127723 ^@ NM_000465.3(BARD1):c.1793C>A (p.Thr598Asn) http://identifiers.org/clinvar/127773 ^@ NM_000535.6(PMS2):c.2108C>T (p.Thr703Met) http://identifiers.org/clinvar/166497 ^@ NM_206933.2(USH2A):c.5254T>G (p.Leu1752Val) http://identifiers.org/clinvar/179008 ^@ NM_001103.3(ACTN2):c.1108-3C>T http://identifiers.org/clinvar/179158 ^@ NM_001035.2(RYR2):c.594C>T (p.Asn198=) http://identifiers.org/clinvar/165995 ^@ NM_133378.4(TTN):c.44710G>A (p.Asp14904Asn) http://identifiers.org/clinvar/179458 ^@ NM_133378.4(TTN):c.39676G>A (p.Val13226Ile) http://identifiers.org/clinvar/179558 ^@ NM_001256850.1(TTN):c.102211A>C (p.Asn34071His) http://identifiers.org/clinvar/165937 ^@ NM_133378.4(TTN):c.51410G>A (p.Arg17137His) http://identifiers.org/clinvar/179658 ^@ NM_133378.4(TTN):c.51193A>G (p.Ile17065Val) http://identifiers.org/clinvar/179358 ^@ NM_022336.3(EDAR):c.357-4G>A http://identifiers.org/clinvar/178908 ^@ NM_133378.4(TTN):c.64965delT (p.Asp21656Ilefs) http://identifiers.org/clinvar/179608 ^@ NM_133378.4(TTN):c.41662C>T (p.Arg13888Cys) http://identifiers.org/clinvar/179308 ^@ NM_133378.4(TTN):c.33703G>A (p.Glu11235Lys) http://identifiers.org/clinvar/166251 ^@ NM_133378.4(TTN):c.10360+6332T>C http://identifiers.org/clinvar/166131 ^@ NM_133378.4(TTN):c.24977A>G (p.Asn8326Ser) http://identifiers.org/clinvar/179058 ^@ NM_133432.3(TTN):c.12806T>C (p.Met4269Thr) http://identifiers.org/clinvar/166361 ^@ NM_133378.4(TTN):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/178807 ^@ NM_198843.2(SFTPB):c.584G>A (p.Gly195Glu) http://identifiers.org/clinvar/178757 ^@ NM_001369.2(DNAH5):c.1356G>A (p.Lys452=) http://identifiers.org/clinvar/166301 ^@ NM_133378.4(TTN):c.8953A>T (p.Thr2985Ser) http://identifiers.org/clinvar/166585 ^@ NM_006005.3(WFS1):c.1261A>G (p.Ile421Val) http://identifiers.org/clinvar/178858 ^@ NM_198056.2(SCN5A):c.5374G>A (p.Asp1792Asn) http://identifiers.org/clinvar/178958 ^@ NM_032119.3(ADGRV1):c.7873C>T (p.Arg2625Cys) http://identifiers.org/clinvar/198653 ^@ NM_033071.3(SYNE1):c.11723G>A (p.Arg3908His) http://identifiers.org/clinvar/198704 ^@ NM_000272.3(NPHP1):c.905G>A (p.Gly302Glu) http://identifiers.org/clinvar/198759 ^@ NM_000480.2(AMPD3):c.1162-5C>A http://identifiers.org/clinvar/198810 ^@ NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) http://identifiers.org/clinvar/198864 ^@ NM_014795.3(ZEB2):c.980C>A (p.Ser327Ter) http://identifiers.org/clinvar/201215 ^@ NM_001035.2(RYR2):c.1259G>A (p.Arg420Gln) http://identifiers.org/clinvar/201162 ^@ NM_001035.2(RYR2):c.2253T>G (p.Thr751=) http://identifiers.org/clinvar/201385 ^@ NM_001035.2(RYR2):c.6532G>A (p.Val2178Ile) http://identifiers.org/clinvar/201273 ^@ NM_001035.2(RYR2):c.7025G>A (p.Gly2342Glu) http://identifiers.org/clinvar/201326 ^@ NM_001035.2(RYR2):c.12283G>A (p.Gly4095Ser) http://identifiers.org/clinvar/201495 ^@ NM_198056.2(SCN5A):c.3467A>G (p.Asp1156Gly) http://identifiers.org/clinvar/201554 ^@ NM_000335.4(SCN5A):c.1583_1584delGC (p.Ser528Asnfs) http://identifiers.org/clinvar/201440 ^@ NM_198056.2(SCN5A):c.664C>G (p.Arg222Gly) http://identifiers.org/clinvar/200672 ^@ NM_000238.3(KCNH2):c.2775dupG (p.Pro926Alafs) http://identifiers.org/clinvar/200247 ^@ NM_000238.3(KCNH2):c.2607G>A (p.Pro869=) http://identifiers.org/clinvar/200791 ^@ NM_000238.3(KCNH2):c.2053delC (p.Arg685Alafs) http://identifiers.org/clinvar/200391 ^@ NM_000238.3(KCNH2):c.1900A>G (p.Thr634Ala) http://identifiers.org/clinvar/200555 ^@ NM_000238.3(KCNH2):c.147C>G (p.Cys49Trp) http://identifiers.org/clinvar/200911 ^@ NM_000218.2(KCNQ1):c.377A>T (p.His126Leu) http://identifiers.org/clinvar/200852 ^@ NM_000218.2(KCNQ1):c.1545G>T (p.Lys515Asn) http://identifiers.org/clinvar/200968 ^@ NM_130799.2(MEN1):c.784-15_784-14delTC http://identifiers.org/clinvar/200171 ^@ NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs) http://identifiers.org/clinvar/201043 ^@ NM_002474.2(MYH11):c.5796C>T (p.Asn1932=) http://identifiers.org/clinvar/201096 ^@ NM_002474.2(MYH11):c.291C>G (p.Asn97Lys) http://identifiers.org/clinvar/201942 ^@ NM_144573.3(NEXN):c.874G>A (p.Asp292Asn) http://identifiers.org/clinvar/201724 ^@ NM_001927.3(DES):c.1047G>A (p.Met349Ile) http://identifiers.org/clinvar/201885 ^@ NM_032578.3(MYPN):c.1888G>A (p.Glu630Lys) http://identifiers.org/clinvar/201834 ^@ NM_007078.2(LDB3):c.287T>C (p.Val96Ala) http://identifiers.org/clinvar/201668 ^@ NM_014391.2(ANKRD1):c.881A>G (p.His294Arg) http://identifiers.org/clinvar/201613 ^@ NM_020297.3(ABCC9):c.3783T>A (p.Tyr1261Ter) http://identifiers.org/clinvar/201778 ^@ NM_000117.2(EMD):c.20T>A (p.Leu7His) http://identifiers.org/clinvar/203005 ^@ NM_001256850.1(TTN):c.89630T>C (p.Val29877Ala) http://identifiers.org/clinvar/202955 ^@ NM_001256850.1(TTN):c.84023C>T (p.Ser28008Leu) http://identifiers.org/clinvar/233284 ^@ NM_000038.5(APC):c.4441G>T (p.Val1481Phe) http://identifiers.org/clinvar/230394 ^@ NM_000038.5(APC):c.6948A>G (p.Pro2316=) http://identifiers.org/clinvar/229744 ^@ NM_000038.5(APC):c.8235T>C (p.Pro2745=) http://identifiers.org/clinvar/233184 ^@ NM_005732.3(RAD50):c.914A>G (p.Asn305Ser) http://identifiers.org/clinvar/232684 ^@ NM_005732.3(RAD50):c.1195C>T (p.Leu399Phe) http://identifiers.org/clinvar/232884 ^@ NM_005732.3(RAD50):c.2786T>C (p.Leu929Ser) http://identifiers.org/clinvar/230194 ^@ NM_000535.6(PMS2):c.1307G>A (p.Ser436Asn) http://identifiers.org/clinvar/234076 ^@ NM_002485.4(NBN):c.543G>A (p.Leu181=) http://identifiers.org/clinvar/231983 ^@ NM_002485.4(NBN):c.147T>G (p.Thr49=) http://identifiers.org/clinvar/232233 ^@ NM_000077.4(CDKN2A):c.144G>A (p.Pro48=) http://identifiers.org/clinvar/231433 ^@ NM_004329.2(BMPR1A):c.1328G>A (p.Arg443His) http://identifiers.org/clinvar/232333 ^@ NM_004329.2(BMPR1A):c.1569G>A (p.Lys523=) http://identifiers.org/clinvar/229794 ^@ NM_000051.3(ATM):c.875C>T (p.Pro292Leu) http://identifiers.org/clinvar/234226 ^@ NM_000051.3(ATM):c.1591G>C (p.Ala531Pro) http://identifiers.org/clinvar/231883 ^@ NM_000051.3(ATM):c.1702A>G (p.Arg568Gly) http://identifiers.org/clinvar/232133 ^@ NM_000051.3(ATM):c.1924_1926delGAA (p.Glu642del) http://identifiers.org/clinvar/231933 ^@ NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) http://identifiers.org/clinvar/230144 ^@ NM_000051.3(ATM):c.3108C>T (p.Phe1036=) http://identifiers.org/clinvar/232533 ^@ NM_000051.3(ATM):c.3382C>G (p.Gln1128Glu) http://identifiers.org/clinvar/232483 ^@ NM_000051.3(ATM):c.8333A>C (p.Glu2778Ala) http://identifiers.org/clinvar/229994 ^@ NM_000051.3(ATM):c.8906A>G (p.Tyr2969Cys) http://identifiers.org/clinvar/234026 ^@ NM_005591.3(MRE11):c.801A>G (p.Gly267=) http://identifiers.org/clinvar/232183 ^@ NM_000059.3(BRCA2):c.323A>C (p.Asn108Thr) http://identifiers.org/clinvar/233034 ^@ NM_000059.3(BRCA2):c.681+4A>T http://identifiers.org/clinvar/231533 ^@ NM_000059.3(BRCA2):c.1917G>A (p.Leu639=) http://identifiers.org/clinvar/230494 ^@ NM_000059.3(BRCA2):c.3384T>C (p.Thr1128=) http://identifiers.org/clinvar/232283 ^@ NM_024675.3(PALB2):c.1588C>T (p.Leu530Phe) http://identifiers.org/clinvar/230244 ^@ NM_004360.4(CDH1):c.688-4T>C http://identifiers.org/clinvar/232433 ^@ NM_004360.4(CDH1):c.1363G>T (p.Ala455Ser) http://identifiers.org/clinvar/229694 ^@ NM_004360.4(CDH1):c.1549A>G (p.Met517Val) http://identifiers.org/clinvar/230294 ^@ NM_004360.4(CDH1):c.2475G>A (p.Pro825=) http://identifiers.org/clinvar/230444 ^@ NM_001042492.2(NF1):c.629T>G (p.Leu210Ter) http://identifiers.org/clinvar/233234 ^@ NM_001042492.2(NF1):c.1141G>A (p.Val381Ile) http://identifiers.org/clinvar/231583 ^@ NM_001042492.2(NF1):c.1756A>C (p.Thr586Pro) http://identifiers.org/clinvar/231483 ^@ NM_001042492.2(NF1):c.1921A>G (p.Ser641Gly) http://identifiers.org/clinvar/232083 ^@ NM_001042492.2(NF1):c.2517C>T (p.Asn839=) http://identifiers.org/clinvar/229844 ^@ NM_001042492.2(NF1):c.2838C>T (p.Asp946=) http://identifiers.org/clinvar/232734 ^@ NM_001042492.2(NF1):c.5215G>C (p.Val1739Leu) http://identifiers.org/clinvar/233134 ^@ NM_001042492.2(NF1):c.5601G>A (p.Pro1867=) http://identifiers.org/clinvar/230044 ^@ NM_001042492.2(NF1):c.5642C>A (p.Thr1881Asn) http://identifiers.org/clinvar/232584 ^@ NM_001042492.2(NF1):c.7241A>G (p.His2414Arg) http://identifiers.org/clinvar/234126 ^@ NM_007294.3(BRCA1):c.3896A>G (p.Gln1299Arg) http://identifiers.org/clinvar/233926 ^@ NM_007294.3(BRCA1):c.2969T>C (p.Val990Ala) http://identifiers.org/clinvar/234176 ^@ NM_007294.3(BRCA1):c.2836A>T (p.Ile946Phe) http://identifiers.org/clinvar/232834 ^@ NM_058216.2(RAD51C):c.854A>G (p.Gln285Arg) http://identifiers.org/clinvar/229894 ^@ NM_032043.2(BRIP1):c.3556A>G (p.Lys1186Glu) http://identifiers.org/clinvar/233976 ^@ NM_032043.2(BRIP1):c.576delT (p.Val193Terfs) http://identifiers.org/clinvar/232934 ^@ NM_007194.3(CHEK2):c.1402G>A (p.Val468Ile) http://identifiers.org/clinvar/232784 ^@ NM_007194.3(CHEK2):c.660C>T (p.Tyr220=) http://identifiers.org/clinvar/239433 ^@ NM_003000.2(SDHB):c.530G>A (p.Arg177His) http://identifiers.org/clinvar/238229 ^@ NM_001035.2(RYR2):c.2396+10T>C http://identifiers.org/clinvar/241423 ^@ NM_022114.3(PRDM16):c.1719G>A (p.Ala573=) http://identifiers.org/clinvar/238829 ^@ NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) http://identifiers.org/clinvar/238779 ^@ NM_001267550.2(TTN):c.43747+5G>C http://identifiers.org/clinvar/238729 ^@ NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys) http://identifiers.org/clinvar/237779 ^@ NM_000393.4(COL5A2):c.750G>A (p.Pro250=) http://identifiers.org/clinvar/237829 ^@ NM_000465.3(BARD1):c.1985T>G (p.Leu662Arg) http://identifiers.org/clinvar/240973 ^@ NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) http://identifiers.org/clinvar/241223 ^@ NM_017849.3(TMEM127):c.409+7C>T http://identifiers.org/clinvar/240673 ^@ NM_006514.3(SCN10A):c.3803G>A (p.Arg1268Gln) http://identifiers.org/clinvar/241073 ^@ NM_015896.3(ZMYND10):c.970C>A (p.Pro324Thr) http://identifiers.org/clinvar/240723 ^@ NM_007159.4(SLMAP):c.495A>G (p.Leu165=) http://identifiers.org/clinvar/238579 ^@ NM_001148.4(ANK2):c.3893+10T>C http://identifiers.org/clinvar/238279 ^@ NM_001080522.2(CC2D2A):c.4438-9C>A http://identifiers.org/clinvar/240323 ^@ NM_006206.4(PDGFRA):c.2080C>T (p.Leu694=) http://identifiers.org/clinvar/239080 ^@ NM_001999.3(FBN2):c.2539A>G (p.Thr847Ala) http://identifiers.org/clinvar/240223 ^@ NM_005732.3(RAD50):c.2289C>G (p.Arg763=) http://identifiers.org/clinvar/238979 ^@ NM_001369.2(DNAH5):c.5184T>C (p.Ile1728=) http://identifiers.org/clinvar/241373 ^@ NM_021072.3(HCN1):c.218_223delGCGGCG (p.Gly73_Gly74del) http://identifiers.org/clinvar/238629 ^@ NM_001206927.1(DNAH8):c.10678G>A (p.Ala3560Thr) http://identifiers.org/clinvar/238929 ^@ NM_001277115.1(DNAH11):c.6416G>A (p.Arg2139Lys) http://identifiers.org/clinvar/257982 ^@ NM_001369.2(DNAH5):c.11571-9A>G http://identifiers.org/clinvar/258032 ^@ NM_001369.2(DNAH5):c.4258A>G (p.Asn1420Asp) http://identifiers.org/clinvar/263061 ^@ NM_182925.4(FLT4):c.401-34G>A http://identifiers.org/clinvar/261672 ^@ NM_023073.3(C5orf42):c.4986A>C (p.Gln1662His) http://identifiers.org/clinvar/258982 ^@ NM_003220.2(TFAP2A):c.1257C>T (p.Asn419=) http://identifiers.org/clinvar/256093 ^@ NM_000426.3(LAMA2):c.909+32T>A http://identifiers.org/clinvar/256293 ^@ NM_000500.7(CYP21A2):c.318G>C (p.Pro106=) http://identifiers.org/clinvar/261122 ^@ NM_019105.6(TNXB):c.12204+43T>G http://identifiers.org/clinvar/261172 ^@ NM_019105.6(TNXB):c.8839C>A (p.Pro2947Thr) http://identifiers.org/clinvar/259382 ^@ NM_004415.3(DSP):c.1904-49T>A http://identifiers.org/clinvar/257882 ^@ NM_001277115.1(DNAH11):c.3426-18T>G http://identifiers.org/clinvar/257932 ^@ NM_001277115.1(DNAH11):c.7812-18C>G http://identifiers.org/clinvar/258532 ^@ NM_002047.3(GARS):c.124C>G (p.Pro42Ala) http://identifiers.org/clinvar/263111 ^@ NM_198428.2(BBS9):c.1017-6T>C http://identifiers.org/clinvar/260922 ^@ NM_017802.3(DNAAF5):c.1257+13A>G http://identifiers.org/clinvar/261322 ^@ NM_020476.2(ANK1):c.909+7A>G http://identifiers.org/clinvar/262661 ^@ NM_152564.4(VPS13B):c.4362A>G (p.Glu1454=) http://identifiers.org/clinvar/258632 ^@ NM_002316.3(LMX1B):c.948G>A (p.Gln316=) http://identifiers.org/clinvar/256643 ^@ NM_000550.2(TYRP1):c.1409-18dupA http://identifiers.org/clinvar/259432 ^@ NM_004560.3(ROR2):c.938-33C>T http://identifiers.org/clinvar/263261 ^@ NM_201590.2(CACNB2):c.1539C>T (p.Tyr513=) http://identifiers.org/clinvar/260472 ^@ NM_014915.2(ANKRD26):c.59A>G (p.Gln20Arg) http://identifiers.org/clinvar/260722 ^@ NM_016341.3(PLCE1):c.5035+12C>A http://identifiers.org/clinvar/263311 ^@ NM_213599.2(ANO5):c.1227A>G (p.Glu409=) http://identifiers.org/clinvar/256343 ^@ NM_000518.4(HBB):c.*353G>A http://identifiers.org/clinvar/256593 ^@ NM_000543.4(SMPD1):c.1749G>A (p.Ser583=) http://identifiers.org/clinvar/261472 ^@ NM_021957.3(GYS2):c.789A>G (p.Ala263=) http://identifiers.org/clinvar/258232 ^@ NM_001844.4(COL2A1):c.3000G>A (p.Pro1000=) http://identifiers.org/clinvar/256243 ^@ NM_000486.5(AQP2):c.360+3G>A http://identifiers.org/clinvar/256043 ^@ NM_000424.3(KRT5):c.351C>T (p.Leu117=) http://identifiers.org/clinvar/258582 ^@ NM_002206.2(ITGA7):c.1567+12C>T http://identifiers.org/clinvar/256693 ^@ NM_000552.4(VWF):c.6799-14C>T http://identifiers.org/clinvar/261072 ^@ NM_018979.3(WNK1):c.4517G>C (p.Cys1506Ser) http://identifiers.org/clinvar/261622 ^@ NM_022489.3(INF2):c.391+17G>A http://identifiers.org/clinvar/261022 ^@ NM_018139.2(DNAAF2):c.728A>C (p.Glu243Ala) http://identifiers.org/clinvar/258832 ^@ NM_002863.4(PYGL):c.1274G>A (p.Arg425His) http://identifiers.org/clinvar/262511 ^@ NM_144596.3(TTC8):c.*16C>T http://identifiers.org/clinvar/333267 ^@ NM_007315.3(STAT1):c.1727+13G>A http://identifiers.org/clinvar/336158 ^@ NM_133259.3(LRPPRC):c.1762T>G (p.Leu588Val) http://identifiers.org/clinvar/333417 ^@ NM_032977.3(CASP10):c.174C>T (p.Ala58=) http://identifiers.org/clinvar/336358 ^@ NM_139279.5(MCFD2):c.*1314C>T http://identifiers.org/clinvar/333617 ^@ NM_001204.6(BMPR2):c.-930_-928dupGGC http://identifiers.org/clinvar/336465 ^@ NM_000233.3(LHCGR):c.606-5C>T http://identifiers.org/clinvar/333317 ^@ NM_001006657.1(WDR35):c.*3269G>A http://identifiers.org/clinvar/333867 ^@ NM_006891.3(CRYGD):c.499C>T (p.Leu167=) http://identifiers.org/clinvar/336765 ^@ NM_015910.5(WDPCP):c.1310G>T (p.Ser437Ile) http://identifiers.org/clinvar/336815 ^@ NM_002056.3(GFPT1):c.*3385G>A http://identifiers.org/clinvar/336865 ^@ NM_002056.3(GFPT1):c.*383T>G http://identifiers.org/clinvar/333967 ^@ NM_015040.3(PIKFYVE):c.*2173C>T http://identifiers.org/clinvar/336208 ^@ NM_000341.3(SLC3A1):c.1626G>T (p.Lys542Asn) http://identifiers.org/clinvar/336258 ^@ NM_001430.4(EPAS1):c.1035-7C>G http://identifiers.org/clinvar/334118 ^@ NM_000384.2(APOB):c.8889C>T (p.Ile2963=) http://identifiers.org/clinvar/337165 ^@ NM_003849.3(SUCLG1):c.-39C>A http://identifiers.org/clinvar/336415 ^@ NM_002354.2(EPCAM):c.*118T>C http://identifiers.org/clinvar/337365 ^@ NM_022912.2(REEP1):c.*2075_*2077delAAG http://identifiers.org/clinvar/336565 ^@ NM_001135659.2(NRXN1):c.-422C>T http://identifiers.org/clinvar/336615 ^@ NM_001039348.2(EFEMP1):c.*649C>T http://identifiers.org/clinvar/336665 ^@ NM_002618.3(PEX13):c.269A>G (p.Tyr90Cys) http://identifiers.org/clinvar/334369 ^@ NM_000784.3(CYP27A1):c.747G>A (p.Gln249=) http://identifiers.org/clinvar/334419 ^@ NM_025216.2(WNT10A):c.*128T>C http://identifiers.org/clinvar/334469 ^@ NM_015311.2(OBSL1):c.4733A>G (p.Gln1578Arg) http://identifiers.org/clinvar/337615 ^@ NM_020184.3(CNNM4):c.*1937G>A http://identifiers.org/clinvar/342255 ^@ NM_033084.4(FANCD2):c.378-6_378-5delTT http://identifiers.org/clinvar/334569 ^@ NM_003590.4(CUL3):c.*3991A>G http://identifiers.org/clinvar/336965 ^@ NM_003494.3(DYSF):c.3388G>A (p.Val1130Ile) http://identifiers.org/clinvar/337065 ^@ NM_004082.4(DCTN1):c.*49G>A http://identifiers.org/clinvar/342505 ^@ NM_000551.3(VHL):c.*3492_*3493dupAA http://identifiers.org/clinvar/334519 ^@ NM_015311.2(OBSL1):c.1590C>T (p.His530=) http://identifiers.org/clinvar/337215 ^@ NM_000821.6(GGCX):c.*2560A>G http://identifiers.org/clinvar/334669 ^@ NM_000092.4(COL4A4):c.*2120dupA http://identifiers.org/clinvar/337415 ^@ NM_004836.6(EIF2AK3):c.1307-4T>G http://identifiers.org/clinvar/342805 ^@ NM_000388.3(CASR):c.3168G>T (p.Val1056=) http://identifiers.org/clinvar/337515 ^@ NM_014014.4(SNRNP200):c.*497_*498dupAT http://identifiers.org/clinvar/342905 ^@ NM_053025.3(MYLK):c.423-8C>T http://identifiers.org/clinvar/335119 ^@ NM_004369.3(COL6A3):c.5646G>T (p.Ser1882=) http://identifiers.org/clinvar/343105 ^@ NM_002880.3(RAF1):c.-110G>A http://identifiers.org/clinvar/342305 ^@ NM_016247.3(IMPG2):c.*1542A>T http://identifiers.org/clinvar/343155 ^@ NM_004637.5(RAB7A):c.-64_-62delCTC http://identifiers.org/clinvar/342555 ^@ NM_198196.2(CD96):c.*435C>T http://identifiers.org/clinvar/342605 ^@ NM_000796.5(DRD3):c.-105G>A http://identifiers.org/clinvar/342655 ^@ NM_020754.3(ARHGAP31):c.2180C>T (p.Thr727Ile) http://identifiers.org/clinvar/342755 ^@ NM_000187.3(HGD):c.48A>G (p.Ser16=) http://identifiers.org/clinvar/350624 ^@ NM_005573.3(LMNB1):c.*503A>T http://identifiers.org/clinvar/357300 ^@ NM_003221.3(TFAP2B):c.*911_*915delACACA http://identifiers.org/clinvar/357400 ^@ NM_138694.3(PKHD1):c.*220A>G http://identifiers.org/clinvar/350824 ^@ NM_003060.3(SLC22A5):c.*484G>A http://identifiers.org/clinvar/357650 ^@ NM_000129.3(F13A1):c.*995G>T http://identifiers.org/clinvar/357800 ^@ NM_001851.4(COL9A1):c.2617C>G (p.Arg873Gly) http://identifiers.org/clinvar/357850 ^@ NM_014989.5(RIMS1):c.3194+9C>A http://identifiers.org/clinvar/357950 ^@ NM_004415.3(DSP):c.3601G>A (p.Glu1201Lys) http://identifiers.org/clinvar/351024 ^@ NM_001369.2(DNAH5):c.12234C>T (p.Gly4078=) http://identifiers.org/clinvar/358150 ^@ NM_022726.3(ELOVL4):c.-90G>C http://identifiers.org/clinvar/355311 ^@ NM_000426.3(LAMA2):c.*118T>C http://identifiers.org/clinvar/358600 ^@ NM_014491.3(FOXP2):c.-16G>A http://identifiers.org/clinvar/358650 ^@ NM_014491.3(FOXP2):c.*2029A>G http://identifiers.org/clinvar/358750 ^@ NM_000492.3(CFTR):c.*1545C>T http://identifiers.org/clinvar/355711 ^@ NM_203395.2(IYD):c.*1346C>T http://identifiers.org/clinvar/358800 ^@ NM_006193.2(PAX4):c.622-7C>T http://identifiers.org/clinvar/358850 ^@ NM_000230.2(LEP):c.*2595C>A http://identifiers.org/clinvar/355811 ^@ NM_033071.3(SYNE1):c.24912C>T (p.Thr8304=) http://identifiers.org/clinvar/356011 ^@ NM_004562.2(PRKN):c.*114_*115dupAC http://identifiers.org/clinvar/356361 ^@ NM_148919.3(PSMB8):c.804G>A (p.Leu268=) http://identifiers.org/clinvar/356411 ^@ NM_080680.2(COL11A2):c.453T>C (p.Arg151=) http://identifiers.org/clinvar/352421 ^@ NM_000337.5(SGCD):c.*6430G>A http://identifiers.org/clinvar/359939 ^@ NM_018947.5(CYCS):c.-80T>C http://identifiers.org/clinvar/360139 ^@ NM_133468.4(BMPER):c.*1262C>T http://identifiers.org/clinvar/352771 ^@ NM_001017995.2(SH3PXD2B):c.*1430G>A http://identifiers.org/clinvar/352621 ^@ NM_000806.5(GABRA1):c.*1837C>G http://identifiers.org/clinvar/360389 ^@ NM_014855.2(AP5Z1):c.*1701C>G http://identifiers.org/clinvar/352871 ^@ NM_022455.4(NSD1):c.658G>T (p.Gly220Cys) http://identifiers.org/clinvar/352921 ^@ NM_022455.4(NSD1):c.*3291A>G http://identifiers.org/clinvar/360689 ^@ NM_000941.2(POR):c.-5G>C http://identifiers.org/clinvar/353071 ^@ NM_014244.4(ADAMTS2):c.*847C>T http://identifiers.org/clinvar/357250 ^@ NM_000255.3(MUT):c.*126A>G http://identifiers.org/clinvar/360739 ^@ NM_001540.3(HSPB1):c.*100_*103delTAAA http://identifiers.org/clinvar/360839 ^@ NM_005751.4(AKAP9):c.8161-6T>A http://identifiers.org/clinvar/353171 ^@ NM_003900.4(SQSTM1):c.*243C>G http://identifiers.org/clinvar/353421 ^@ NM_023073.3(C5orf42):c.8516C>T (p.Pro2839Leu) http://identifiers.org/clinvar/353221 ^@ NM_014324.5(AMACR):c.*2093A>G http://identifiers.org/clinvar/357700 ^@ NM_001142800.1(EYS):c.6284C>T (p.Pro2095Leu) http://identifiers.org/clinvar/357750 ^@ NM_001142800.1(EYS):c.91G>A (p.Glu31Lys) http://identifiers.org/clinvar/358000 ^@ NM_004999.3(MYO6):c.2946+10T>C http://identifiers.org/clinvar/353821 ^@ NM_002203.3(ITGA2):c.*2392G>A http://identifiers.org/clinvar/358100 ^@ NM_181714.3(LCA5):c.1080A>G (p.Glu360=) http://identifiers.org/clinvar/361039 ^@ NM_017890.4(VPS13B):c.886G>A (p.Glu296Lys) http://identifiers.org/clinvar/300530 ^@ NM_002778.3(PSAP):c.204C>T (p.Asp68=) http://identifiers.org/clinvar/307684 ^@ NM_004064.4(CDKN1B):c.*746G>T http://identifiers.org/clinvar/307734 ^@ NM_000834.3(GRIN2B):c.*30C>G http://identifiers.org/clinvar/307834 ^@ NM_172364.4(CACNA2D4):c.3309+6G>A http://identifiers.org/clinvar/307884 ^@ NM_019844.3(SLCO1B3):c.-90C>T http://identifiers.org/clinvar/301080 ^@ NM_007055.3(POLR3A):c.621G>A (p.Val207=) http://identifiers.org/clinvar/308284 ^@ NM_139241.3(FGD4):c.-36C>A http://identifiers.org/clinvar/301280 ^@ NM_033100.3(CDHR1):c.*893C>T http://identifiers.org/clinvar/308534 ^@ NM_017641.3(KIF21A):c.*690delT http://identifiers.org/clinvar/308684 ^@ NM_153026.2(PRICKLE1):c.*1218G>A http://identifiers.org/clinvar/308784 ^@ NM_020638.2(FGF23):c.*998C>G http://identifiers.org/clinvar/308934 ^@ NM_001844.4(COL2A1):c.532-3C>A http://identifiers.org/clinvar/309034 ^@ NM_003482.3(KMT2D):c.10179G>A (p.Pro3393=) http://identifiers.org/clinvar/301730 ^@ NM_016341.3(PLCE1):c.5313G>T (p.Arg1771Ser) http://identifiers.org/clinvar/365787 ^@ NM_000093.4(COL5A1):c.*2090C>T http://identifiers.org/clinvar/309673 ^@ NM_002272.3(KRT4):c.1203C>T (p.Arg401=) http://identifiers.org/clinvar/309773 ^@ NM_002206.2(ITGA7):c.*358C>T http://identifiers.org/clinvar/366388 ^@ NM_000459.4(TEK):c.-275dupG http://identifiers.org/clinvar/309873 ^@ NM_012064.3(MIP):c.*615A>G http://identifiers.org/clinvar/365988 ^@ NM_016219.4(MAN1B1):c.*498G>C http://identifiers.org/clinvar/309923 ^@ NM_005379.3(MYO1A):c.230+14C>T http://identifiers.org/clinvar/366038 ^@ NM_024757.4(EHMT1):c.*204C>T http://identifiers.org/clinvar/310023 ^@ NM_001172696.1(TSFM):c.*210G>A http://identifiers.org/clinvar/366488 ^@ NM_001256054.2(C9orf72):c.*1058G>T http://identifiers.org/clinvar/310123 ^@ NM_001038.5(SCNN1A):c.*590C>G http://identifiers.org/clinvar/310173 ^@ NM_002076.3(GNS):c.*2560T>G http://identifiers.org/clinvar/366188 ^@ NM_144966.5(FREM1):c.-396C>T http://identifiers.org/clinvar/310373 ^@ NM_000365.5(TPI1):c.*542_*544delCAA http://identifiers.org/clinvar/310573 ^@ NM_020661.3(AICDA):c.*288C>T http://identifiers.org/clinvar/366938 ^@ NM_001042413.1(GLIS3):c.*1197G>C http://identifiers.org/clinvar/310878 ^@ NM_004115.3(FGF14):c.*971_*972dupAA http://identifiers.org/clinvar/310978 ^@ NM_002312.3(LIG4):c.2274T>C (p.Tyr758=) http://identifiers.org/clinvar/312617 ^@ NM_001376.4(DYNC1H1):c.345-10T>G http://identifiers.org/clinvar/340465 ^@ NM_006031.5(PCNT):c.904G>A (p.Glu302Lys) http://identifiers.org/clinvar/312717 ^@ NM_022489.3(INF2):c.*232G>A http://identifiers.org/clinvar/322002 ^@ NM_002615.6(SERPINF1):c.345C>T (p.Ser115=) http://identifiers.org/clinvar/312817 ^@ NM_001126106.2(SLC7A7):c.1095+6T>C http://identifiers.org/clinvar/340716 ^@ NM_014339.6(IL17RA):c.*4737A>G http://identifiers.org/clinvar/312967 ^@ NM_001099274.1(TINF2):c.-277C>G http://identifiers.org/clinvar/340866 ^@ NM_004782.3(SNAP29):c.*1563T>G http://identifiers.org/clinvar/313017 ^@ NM_025152.2(NUBPL):c.-13A>G http://identifiers.org/clinvar/340916 ^@ NM_003073.4(SMARCB1):c.*12_*14dupGCA http://identifiers.org/clinvar/313067 ^@ NM_025152.2(NUBPL):c.*1685A>G http://identifiers.org/clinvar/313217 ^@ NM_020937.3(FANCM):c.4261G>A (p.Glu1421Lys) http://identifiers.org/clinvar/322741 ^@ NM_145068.3(TRPV3):c.*88G>A http://identifiers.org/clinvar/341416 ^@ NM_004737.5(LARGE1):c.*849C>T http://identifiers.org/clinvar/322941 ^@ NM_000458.3(HNF1B):c.*99C>A http://identifiers.org/clinvar/322991 ^@ NM_001004334.3(GPR179):c.3819C>G (p.Ala1273=) http://identifiers.org/clinvar/323141 ^@ NM_000226.3(KRT9):c.195C>T (p.Gly65=) http://identifiers.org/clinvar/323191 ^@ NM_021939.3(FKBP10):c.1256+17dupG http://identifiers.org/clinvar/323241 ^@ NM_139276.2(STAT3):c.2216A>G (p.Asn739Ser) http://identifiers.org/clinvar/323441 ^@ NM_025237.2(SOST):c.147G>A (p.Glu49=) http://identifiers.org/clinvar/323541 ^@ NM_000419.4(ITGA2B):c.*51C>T http://identifiers.org/clinvar/323691 ^@ NM_005910.5(MAPT):c.*2167G>A http://identifiers.org/clinvar/368606 ^@ NM_013444.3(UBQLN2):c.-49_-48dupCT http://identifiers.org/clinvar/316716 ^@ NM_016630.6(SPG21):c.*63C>T http://identifiers.org/clinvar/316866 ^@ NM_005902.3(SMAD3):c.*195G>T http://identifiers.org/clinvar/325589 ^@ NM_006640.4(SEPT9):c.*479C>A http://identifiers.org/clinvar/372011 ^@ NM_006231.3(POLE):c.4729-13dupT http://identifiers.org/clinvar/372061 ^@ NM_006231.3(POLE):c.3459+2T>C http://identifiers.org/clinvar/371911 ^@ NM_006231.3(POLE):c.3378+15C>T http://identifiers.org/clinvar/371811 ^@ NM_007294.3(BRCA1):c.-20+107dupG http://identifiers.org/clinvar/372111 ^@ NM_006412.3(AGPAT2):c.676C>T (p.Gln226Ter) http://identifiers.org/clinvar/372185 ^@ NM_002250.2(KCNN4):c.844G>A (p.Val282Met) http://identifiers.org/clinvar/372241 ^@ NM_138773.3(SLC25A46):c.998C>T (p.Pro333Leu) http://identifiers.org/clinvar/372711 ^@ NM_006017.2(PROM1):c.1354dupT (p.Tyr452Leufs) http://identifiers.org/clinvar/372347 ^@ NM_000094.3(COL7A1):c.7012C>T (p.Arg2338Ter) http://identifiers.org/clinvar/372398 ^@ NM_194456.1(KRIT1):c.1201_1204delCAAA (p.Gln401Thrfs) http://identifiers.org/clinvar/372811 ^@ NM_014244.4(ADAMTS2):c.68T>C (p.Leu23Pro) http://identifiers.org/clinvar/372761 ^@ NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) http://identifiers.org/clinvar/372295 ^@ NM_001171.5(ABCC6):c.3491G>A (p.Arg1164Gln) http://identifiers.org/clinvar/373756 ^@ NM_002471.3(MYH6):c.5710G>A (p.Glu1904Lys) http://identifiers.org/clinvar/372916 ^@ NM_014714.3(IFT140):c.3250_3253dupGCGG (p.Val1085Glyfs) http://identifiers.org/clinvar/372864 ^@ NM_000138.4(FBN1):c.6206delA (p.Lys2069Serfs) http://identifiers.org/clinvar/373806 ^@ NM_015295.2(SMCHD1):c.758T>C (p.Ile253Thr) http://identifiers.org/clinvar/373856 ^@ NM_007294.3:c.-19-48_80+248delinsU77841.1:g.2145_2536 http://identifiers.org/clinvar/374109 ^@ NM_018973.3(DPM3):c.227T>A (p.Leu76Gln) http://identifiers.org/clinvar/374209 ^@ NM_001360.2(DHCR7):c.655T>C (p.Tyr219His) http://identifiers.org/clinvar/373959 ^@ NM_000834.3(GRIN2B):c.2395G>A (p.Gly799Ser) http://identifiers.org/clinvar/374159 ^@ NM_000548.4(TSC2):c.886G>A (p.Val296Met) http://identifiers.org/clinvar/374009 ^@ NM_001098.2(ACO2):c.75C>T (p.Val25=) http://identifiers.org/clinvar/373909 ^@ NM_001099410.1(GPRASP1):c.3379G>C (p.Glu1127Gln) http://identifiers.org/clinvar/374059 ^@ NM_004006.2(DMD):c.5699T>G (p.Leu1900Ter) http://identifiers.org/clinvar/374398 ^@ NM_001145853.1(WFS1):c.1079G>A (p.Cys360Tyr) http://identifiers.org/clinvar/374263 ^@ NM_001845.5(COL4A1):c.3555A>G (p.Lys1185=) http://identifiers.org/clinvar/374333 ^@ NM_031407.6(HUWE1):c.3239G>A (p.Arg1080His) http://identifiers.org/clinvar/374451 ^@ NM_017946.3(FKBP14):c.48_50delTTT (p.Leu17del) http://identifiers.org/clinvar/374501 ^@ NM_001851.4(COL9A1):c.188delT (p.Phe63Serfs) http://identifiers.org/clinvar/374551 ^@ NM_019887.5(DIABLO):c.702_712delCTACCTGCGTG (p.Tyr235Glyfs) http://identifiers.org/clinvar/374601 ^@ NM_080629.2(COL11A1):c.1778G>A (p.Arg593His) http://identifiers.org/clinvar/374651 ^@ NM_003159.2(CDKL5):c.1456G>A (p.Ala486Thr) http://identifiers.org/clinvar/374701 ^@ NM_004614.4(TK2):c.375G>C (p.Gln125His) http://identifiers.org/clinvar/374751 ^@ NM_015346.3(ZFYVE26):c.1170G>A (p.Leu390=) http://identifiers.org/clinvar/374811 ^@ NM_000141.4(FGFR2):c.842A>G (p.Tyr281Cys) http://identifiers.org/clinvar/374861 ^@ NM_005477.2(HCN4):c.1241C>G (p.Ala414Gly) http://identifiers.org/clinvar/389446 ^@ NM_001256850.1(TTN):c.13142-16C>T http://identifiers.org/clinvar/384518 ^@ NM_015120.4(ALMS1):c.3322T>C (p.Tyr1108His) http://identifiers.org/clinvar/388196 ^@ NM_000090.3(COL3A1):c.*7C>T http://identifiers.org/clinvar/378172 ^@ NM_000179.2(MSH6):c.4002-20T>G http://identifiers.org/clinvar/377970 ^@ NM_002156.4(HSPD1):c.732T>G (p.Val244=) http://identifiers.org/clinvar/383767 ^@ NM_015120.4(ALMS1):c.767+20T>A http://identifiers.org/clinvar/378322 ^@ NM_000532.4(PCCB):c.372+15C>T http://identifiers.org/clinvar/389346 ^@ NM_003242.5(TGFBR2):c.1158C>T (p.Leu386=) http://identifiers.org/clinvar/380070 ^@ NM_133259.3(LRPPRC):c.3585C>T (p.Ala1195=) http://identifiers.org/clinvar/377920 ^@ NM_024996.5(GFM1):c.-25C>T http://identifiers.org/clinvar/389946 ^@ NM_005051.2(QARS):c.495C>T (p.Ile165=) http://identifiers.org/clinvar/387457 ^@ NM_182916.2(TRNT1):c.-28+17C>G http://identifiers.org/clinvar/389296 ^@ NM_153717.2(EVC):c.1128G>A (p.Ala376=) http://identifiers.org/clinvar/388096 ^@ NM_001135659.2(NRXN1):c.6G>T (p.Gly2=) http://identifiers.org/clinvar/386257 ^@ NM_001182.4(ALDH7A1):c.650+18T>C http://identifiers.org/clinvar/377870 ^@ NM_001999.3(FBN2):c.6511+4C>T http://identifiers.org/clinvar/378578 ^@ NM_024577.3(SH3TC2):c.1473C>T (p.Phe491=) http://identifiers.org/clinvar/384167 ^@ NM_000806.5(GABRA1):c.-19T>C http://identifiers.org/clinvar/391535 ^@ NM_017651.4(AHI1):c.400C>T (p.Pro134Ser) http://identifiers.org/clinvar/388896 ^@ NM_020117.10(LARS):c.1284G>A (p.Pro428=) http://identifiers.org/clinvar/378072 ^@ NM_020117.10(LARS):c.126-9G>T http://identifiers.org/clinvar/390985 ^@ NM_033071.3(SYNE1):c.15999G>A (p.Ala5333=) http://identifiers.org/clinvar/380571 ^@ NM_001085411.2(NADK2):c.632G>A (p.Arg211His) http://identifiers.org/clinvar/383216 ^@ NM_033071.3(SYNE1):c.19360-12G>C http://identifiers.org/clinvar/378222 ^@ NM_016599.4(MYOZ2):c.561-13T>A http://identifiers.org/clinvar/387407 ^@ NM_152778.2(MFSD8):c.554-9C>G http://identifiers.org/clinvar/386607 ^@ NM_000238.3(KCNH2):c.1419C>T (p.Thr473=) http://identifiers.org/clinvar/382264 ^@ NM_000238.3(KCNH2):c.387C>T (p.Phe129=) http://identifiers.org/clinvar/382965 ^@ NM_183050.3(BCKDHB):c.478-15C>T http://identifiers.org/clinvar/379030 ^@ NM_004415.3(DSP):c.1860G>A (p.Gln620=) http://identifiers.org/clinvar/389396 ^@ NM_018238.3(AGK):c.331G>C (p.Glu111Gln) http://identifiers.org/clinvar/388396 ^@ NM_000238.3(KCNH2):c.1945+20G>A http://identifiers.org/clinvar/388846 ^@ NM_020320.4(RARS2):c.879-10G>A http://identifiers.org/clinvar/378477 ^@ NM_005045.3(RELN):c.3008+11A>G http://identifiers.org/clinvar/390885 ^@ NM_002047.3(GARS):c.531G>A (p.Glu177=) http://identifiers.org/clinvar/387357 ^@ NM_015570.3(AUTS2):c.241A>G (p.Thr81Ala) http://identifiers.org/clinvar/378427 ^@ NM_016203.3(PRKAG2):c.685-3C>T http://identifiers.org/clinvar/382163 ^@ NM_000535.6(PMS2):c.2382T>C (p.Pro794=) http://identifiers.org/clinvar/389496 ^@ NM_019892.5(INPP5E):c.1387+17T>C http://identifiers.org/clinvar/388446 ^@ NM_018341.2(ERMARD):c.1329T>C (p.Cys443=) http://identifiers.org/clinvar/383917 ^@ NM_016035.4(COQ4):c.424G>A (p.Ala142Thr) http://identifiers.org/clinvar/383716 ^@ NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) http://identifiers.org/clinvar/387207 ^@ NM_001130438.2(SPTAN1):c.4887C>T (p.Gly1629=) http://identifiers.org/clinvar/387257 ^@ NM_032340.3(UQCC2):c.372T>C (p.His124=) http://identifiers.org/clinvar/382865 ^@ NM_004408.3(DNM1):c.1894-18G>T http://identifiers.org/clinvar/383666 ^@ NM_006416.4(SLC35A1):c.-23C>T http://identifiers.org/clinvar/386557 ^@ NM_001130438.2(SPTAN1):c.6858G>A (p.Lys2286=) http://identifiers.org/clinvar/133199 ^@ NM_000540.2(RYR1):c.7324-19C>T http://identifiers.org/clinvar/133341 ^@ NM_015509.3(NECAP1):c.142C>T (p.Arg48Ter) http://identifiers.org/clinvar/133391 ^@ NM_003073.4(SMARCB1):c.500+116C>T http://identifiers.org/clinvar/133441 ^@ NM_007313.2(ABL1):c.2551C>A (p.His851Asn) http://identifiers.org/clinvar/133491 ^@ NM_152424.3(AMER1):c.835A>G (p.Ser279Gly) http://identifiers.org/clinvar/133542 ^@ NM_015071.5(ARHGAP26):c.1775A>G (p.Lys592Arg) http://identifiers.org/clinvar/133592 ^@ NM_015338.5(ASXL1):c.1954G>A (p.Gly652Ser) http://identifiers.org/clinvar/133642 ^@ NM_000051.3(ATM):c.8978G>A (p.Arg2993Gln) http://identifiers.org/clinvar/133692 ^@ NM_001123383.1(BCOR):c.3440C>T (p.Thr1147Ile) http://identifiers.org/clinvar/133745 ^@ NM_032043.2(BRIP1):c.1586G>A (p.Gly529Glu) http://identifiers.org/clinvar/133796 ^@ NM_032415.5(CARD11):c.2242A>G (p.Thr748Ala) http://identifiers.org/clinvar/133846 ^@ NM_004360.4(CDH1):c.1888C>G (p.Leu630Val) http://identifiers.org/clinvar/133896 ^@ NM_015125.4(CIC):c.1979C>T (p.Pro660Leu) http://identifiers.org/clinvar/133946 ^@ NM_022148.3(CRLF2):c.269A>G (p.Gln90Arg) http://identifiers.org/clinvar/133996 ^@ NM_001077706.2(ECT2L):c.1709T>C (p.Val570Ala) http://identifiers.org/clinvar/134046 ^@ NM_001429.3(EP300):c.865A>G (p.Met289Val) http://identifiers.org/clinvar/134098 ^@ NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) http://identifiers.org/clinvar/134148 ^@ NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) http://identifiers.org/clinvar/134198 ^@ NM_000127.2(EXT1):c.382G>T (p.Ala128Ser) http://identifiers.org/clinvar/134248 ^@ NM_000135.2(FANCA):c.1928C>G (p.Pro643Arg) http://identifiers.org/clinvar/134299 ^@ NM_000136.2(FANCC):c.1414G>A (p.Gly472Arg) http://identifiers.org/clinvar/134350 ^@ NM_022725.3(FANCF):c.955C>T (p.Pro319Ser) http://identifiers.org/clinvar/134400 ^@ NM_000142.4(FGFR3):c.599G>T (p.Arg200Leu) http://identifiers.org/clinvar/134450 ^@ NM_004119.2(FLT3):c.844G>A (p.Gly282Arg) http://identifiers.org/clinvar/134500 ^@ NM_004484.3(GPC3):c.358C>T (p.Arg120Cys) http://identifiers.org/clinvar/134550 ^@ NM_004972.3(JAK2):c.1700T>C (p.Val567Ala) http://identifiers.org/clinvar/134600 ^@ NM_001291415.1(KDM6A):c.4105A>T (p.Ile1369Phe) http://identifiers.org/clinvar/136240 ^@ NM_000350.2(ABCA4):c.3523-9C>G http://identifiers.org/clinvar/136342 ^@ NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) http://identifiers.org/clinvar/136393 ^@ NM_001148.4(ANK2):c.4123-19T>G http://identifiers.org/clinvar/184642 ^@ NM_001042492.2(NF1):c.8223G>C (p.Thr2741=) http://identifiers.org/clinvar/186683 ^@ NM_002878.3(RAD51D):c.422T>C (p.Leu141Pro) http://identifiers.org/clinvar/185881 ^@ NM_007294.3(BRCA1):c.4081A>G (p.Met1361Val) http://identifiers.org/clinvar/186381 ^@ NM_007294.3(BRCA1):c.3066delA (p.Val1023Terfs) http://identifiers.org/clinvar/184292 ^@ NM_058216.2(RAD51C):c.262C>T (p.Leu88=) http://identifiers.org/clinvar/187633 ^@ NM_058216.2(RAD51C):c.635G>A (p.Arg212His) http://identifiers.org/clinvar/187133 ^@ NM_058216.2(RAD51C):c.923C>G (p.Ala308Gly) http://identifiers.org/clinvar/184542 ^@ NM_032043.2(BRIP1):c.2274A>G (p.Val758=) http://identifiers.org/clinvar/186933 ^@ NM_032043.2(BRIP1):c.1089C>T (p.Asp363=) http://identifiers.org/clinvar/184042 ^@ NM_000546.5(TP53):c.474C>T (p.Arg158=) http://identifiers.org/clinvar/184692 ^@ NM_000455.4(STK11):c.976C>A (p.Pro326Thr) http://identifiers.org/clinvar/227953 ^@ NM_000441.1(SLC26A4):c.948A>C (p.Gly316=) http://identifiers.org/clinvar/227372 ^@ NM_021167.4(GATAD1):c.249+13G>A http://identifiers.org/clinvar/227021 ^@ NM_007171.3(POMT1):c.752G= (p.Arg251=) http://identifiers.org/clinvar/228453 ^@ NM_004281.3(BAG3):c.1015A>G (p.Ile339Val) http://identifiers.org/clinvar/227221 ^@ NM_022124.5(CDH23):c.2711C>T (p.Pro904Leu) http://identifiers.org/clinvar/228503 ^@ NM_022124.5(CDH23):c.7903G>T (p.Val2635Phe) http://identifiers.org/clinvar/227071 ^@ NM_001098668.3(SFTPA2):c.667C>A (p.Gln223Lys) http://identifiers.org/clinvar/229292 ^@ NM_005422.2(TECTA):c.187C>T (p.Arg63Cys) http://identifiers.org/clinvar/228003 ^@ NM_005422.2(TECTA):c.6250+12C>T http://identifiers.org/clinvar/227552 ^@ NM_002458.2(MUC5B):c.15238G>A (p.Gly5080Ser) http://identifiers.org/clinvar/226870 ^@ NM_001277269.1(OTOG):c.2597+10G>A http://identifiers.org/clinvar/227802 ^@ NM_001277269.1(OTOG):c.8011G>A (p.Val2671Met) http://identifiers.org/clinvar/226920 ^@ NM_001277269.1(OTOG):c.8405G>A (p.Arg2802His) http://identifiers.org/clinvar/227472 ^@ NM_004985.4(KRAS):c.451-10T>C http://identifiers.org/clinvar/227852 ^@ NM_004572.3(PKP2):c.978A>G (p.Ala326=) http://identifiers.org/clinvar/226970 ^@ NM_173591.3(OTOGL):c.6429G>A (p.Thr2143=) http://identifiers.org/clinvar/228403 ^@ NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter) http://identifiers.org/clinvar/227652 ^@ NM_016239.3(MYO15A):c.7473+10G>T http://identifiers.org/clinvar/227702 ^@ NM_003803.3(MYOM1):c.4648+7A>G http://identifiers.org/clinvar/226820 ^@ NM_003803.3(MYOM1):c.3945G>A (p.Thr1315=) http://identifiers.org/clinvar/227522 ^@ NM_144612.6(LOXHD1):c.4068G>A (p.Arg1356=) http://identifiers.org/clinvar/226720 ^@ NM_003573.2(LTBP4):c.2265C>T (p.Cys755=) http://identifiers.org/clinvar/227602 ^@ NM_002473.5(MYH9):c.1722C>T (p.Ala574=) http://identifiers.org/clinvar/227171 ^@ NM_001614.3(ACTG1):c.803-13C>T http://identifiers.org/clinvar/234286 ^@ NM_004895.4(NLRP3):c.230C>T (p.Ala77Val) http://identifiers.org/clinvar/234660 ^@ NM_000179.2(MSH6):c.512A>G (p.Glu171Gly) http://identifiers.org/clinvar/234760 ^@ NM_000179.2(MSH6):c.2459G>T (p.Arg820Met) http://identifiers.org/clinvar/233084 ^@ NM_000179.2(MSH6):c.2525C>G (p.Ala842Gly) http://identifiers.org/clinvar/234400 ^@ NM_000314.6(PTEN):c.-986C>T http://identifiers.org/clinvar/234458 ^@ NM_000314.6(PTEN):c.-688G>C http://identifiers.org/clinvar/234710 ^@ NM_000314.6(PTEN):c.242T>G (p.Phe81Cys) http://identifiers.org/clinvar/234509 ^@ NM_000314.6(PTEN):c.945T>A (p.Tyr315Ter) http://identifiers.org/clinvar/234560 ^@ NM_000059.3(BRCA2):c.7479G>A (p.Met2493Ile) http://identifiers.org/clinvar/234610 ^@ NM_004360.4(CDH1):c.1779dupC (p.Ile594Hisfs) http://identifiers.org/clinvar/234338 ^@ NM_014646.2(LPIN2):c.1550G>A (p.Arg517His) http://identifiers.org/clinvar/232634 ^@ NM_003001.3(SDHC):c.431A>C (p.Lys144Thr) http://identifiers.org/clinvar/230094 ^@ NM_000465.3(BARD1):c.1623G>A (p.Ser541=) http://identifiers.org/clinvar/230344 ^@ NM_000465.3(BARD1):c.457_460dupAAAG (p.Val154Glufs) http://identifiers.org/clinvar/232033 ^@ NM_000179.2(MSH6):c.184C>A (p.Arg62Ser) http://identifiers.org/clinvar/230544 ^@ NM_000179.2(MSH6):c.1957G>C (p.Val653Leu) http://identifiers.org/clinvar/232984 ^@ NM_000249.3(MLH1):c.848A>G (p.Tyr283Cys) http://identifiers.org/clinvar/232383 ^@ NM_000249.3(MLH1):c.1468A>G (p.Met490Val) http://identifiers.org/clinvar/229944 ^@ NM_000038.5(APC):c.2105G>A (p.Gly702Glu) http://identifiers.org/clinvar/263416 ^@ NM_000138.4(FBN1):c.7C>T (p.Arg3Ter) http://identifiers.org/clinvar/264069 ^@ NM_020433.4(JPH2):c.648G>A (p.Lys216=) http://identifiers.org/clinvar/263517 ^@ NM_000071.2(CBS):c.981C>T (p.Asn327=) http://identifiers.org/clinvar/264219 ^@ NM_004006.2(DMD):c.7429C>T (p.Arg2477Trp) http://identifiers.org/clinvar/263467 ^@ NM_002474.2:c.5919+5C>G http://identifiers.org/clinvar/264683 ^@ NM_000380.3(XPA):c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs) http://identifiers.org/clinvar/264740 ^@ NM_001242896.1(DEPDC5):c.3696+5G>A http://identifiers.org/clinvar/264895 ^@ NM_000059.3(BRCA2):c.7007+2333_7007+2343del http://identifiers.org/clinvar/264945 ^@ NM_000059.3(BRCA2):c.9256+5961C>A http://identifiers.org/clinvar/264795 ^@ NM_007294.3(BRCA1):c.4676-284_4676-283insACAAGCATTGTTACAGTGAACATT http://identifiers.org/clinvar/264845 ^@ NM_007294.3(BRCA1):c.441+1173dup http://identifiers.org/clinvar/265706 ^@ NM_000433.3(NCF2):c.1524A>C (p.Lys508Asn) http://identifiers.org/clinvar/265150 ^@ NM_000143.3(FH):c.1390+1G>T http://identifiers.org/clinvar/265305 ^@ NM_021007.2(SCN2A):c.4001T>C (p.Ile1334Thr) http://identifiers.org/clinvar/265254 ^@ NM_001165963.1(SCN1A):c.1702C>T (p.Arg568Ter) http://identifiers.org/clinvar/264997 ^@ NM_173076.2(ABCA12):c.178C>T (p.Arg60Ter) http://identifiers.org/clinvar/265201 ^@ NM_002222.5(ITPR1):c.805C>T (p.Arg269Trp) http://identifiers.org/clinvar/265100 ^@ NM_001277115.1(DNAH11):c.10691+2T>C http://identifiers.org/clinvar/265405 ^@ NM_017780.3(CHD7):c.6165_6166delGT (p.Tyr2056Profs) http://identifiers.org/clinvar/265555 ^@ NM_007327.3(GRIN1):c.505G>A (p.Asp169Asn) http://identifiers.org/clinvar/265355 ^@ NM_006231.3(POLE):c.2683G>A (p.Ala895Thr) http://identifiers.org/clinvar/265050 ^@ NM_007294.3(BRCA1):c.4016A>G (p.Glu1339Gly) http://identifiers.org/clinvar/265656 ^@ NM_001005360.2(DNM2):c.1879C>G (p.Pro627Ala) http://identifiers.org/clinvar/265505 ^@ NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) http://identifiers.org/clinvar/265455 ^@ NM_000061.2(BTK):c.1632-2A>G http://identifiers.org/clinvar/265606 ^@ NM_004006.2(DMD):c.10150delA (p.Arg3384Glyfs) http://identifiers.org/clinvar/265795 ^@ NM_001711.5(BGN):c.908A>C (p.Gln303Pro) http://identifiers.org/clinvar/265945 ^@ NM_174936.3(PCSK9):c.1681+39C>T http://identifiers.org/clinvar/265895 ^@ NM_000384.2(APOB):c.13158delA (p.Glu4387Asnfs) http://identifiers.org/clinvar/266000 ^@ NM_004621.5(TRPC6):c.5G>C (p.Ser2Thr) http://identifiers.org/clinvar/266766 ^@ NM_000059.3(BRCA2):c.370_374delATGGA (p.Met124Serfs) http://identifiers.org/clinvar/266716 ^@ NM_000059.3(BRCA2):c.2745_2746delTT (p.Val917Lysfs) http://identifiers.org/clinvar/266816 ^@ NM_000059.3(BRCA2):c.4476delA (p.Glu1493Lysfs) http://identifiers.org/clinvar/291624 ^@ NM_015074.3(KIF1B):c.*2567G>C http://identifiers.org/clinvar/291674 ^@ NM_004565.2(PEX14):c.297C>T (p.Tyr99=) http://identifiers.org/clinvar/291774 ^@ NM_006610.3(MASP2):c.*189G>A http://identifiers.org/clinvar/292024 ^@ NM_138959.2(VANGL1):c.*483A>G http://identifiers.org/clinvar/291874 ^@ NM_013319.2(UBIAD1):c.*239G>A http://identifiers.org/clinvar/292124 ^@ NM_001232.3(CASQ2):c.*138T>C http://identifiers.org/clinvar/291724 ^@ NM_005272.3(GNAT2):c.14C>T (p.Ala5Val) http://identifiers.org/clinvar/291824 ^@ NM_013319.2(UBIAD1):c.417C>T (p.Tyr139=) http://identifiers.org/clinvar/292324 ^@ NM_005518.3(HMGCS2):c.*165C>T http://identifiers.org/clinvar/291924 ^@ NM_003051.3(SLC16A1):c.-349G>A http://identifiers.org/clinvar/292074 ^@ NM_138959.2(VANGL1):c.*4463A>G http://identifiers.org/clinvar/291974 ^@ NM_002524.4(NRAS):c.*344A>G http://identifiers.org/clinvar/292224 ^@ NM_005957.4(MTHFR):c.*367_*369dupCTT http://identifiers.org/clinvar/292274 ^@ NM_000198.3(HSD3B2):c.*276C>T http://identifiers.org/clinvar/292174 ^@ NM_005957.4(MTHFR):c.*3284G>A http://identifiers.org/clinvar/293763 ^@ NM_022089.3(ATP13A2):c.*124C>T http://identifiers.org/clinvar/293813 ^@ NM_018122.4(DARS2):c.128-5T>A http://identifiers.org/clinvar/293963 ^@ NM_002065.6(GLUL):c.-412C>T http://identifiers.org/clinvar/294063 ^@ NM_000433.3(NCF2):c.*508_*512dupGGTTA http://identifiers.org/clinvar/294013 ^@ NM_005562.2(LAMC2):c.2892C>T (p.Asn964=) http://identifiers.org/clinvar/294113 ^@ NM_031935.2(HMCN1):c.2086C>G (p.Leu696Val) http://identifiers.org/clinvar/294163 ^@ NM_031935.2(HMCN1):c.5851+10delC http://identifiers.org/clinvar/294263 ^@ NM_031935.2(HMCN1):c.13313-5C>T http://identifiers.org/clinvar/294313 ^@ NM_031935.2(HMCN1):c.16793G>A (p.Arg5598Gln) http://identifiers.org/clinvar/294363 ^@ NM_003748.3(ALDH4A1):c.1681T>A (p.Tyr561Asn) http://identifiers.org/clinvar/294663 ^@ NM_018136.4(ASPM):c.-189C>G http://identifiers.org/clinvar/294913 ^@ NM_003465.2(CHIT1):c.1281C>G (p.Leu427=) http://identifiers.org/clinvar/294963 ^@ NM_000537.3(REN):c.267G>T (p.Glu89Asp) http://identifiers.org/clinvar/293863 ^@ NM_033343.3(LHX4):c.384C>T (p.Asp128=) http://identifiers.org/clinvar/295013 ^@ NM_032409.2(PINK1):c.*181C>G http://identifiers.org/clinvar/293913 ^@ NM_002065.6(GLUL):c.*1411C>T http://identifiers.org/clinvar/343355 ^@ NM_153240.4(NPHP3):c.*1098C>T http://identifiers.org/clinvar/336308 ^@ NM_001430.4(EPAS1):c.*1225C>T http://identifiers.org/clinvar/344394 ^@ NM_003722.4(TP63):c.*235_*238delGTAG http://identifiers.org/clinvar/344494 ^@ NM_015560.2(OPA1):c.*560T>C http://identifiers.org/clinvar/336108 ^@ NM_133259.3(LRPPRC):c.*1895G>T http://identifiers.org/clinvar/344944 ^@ NM_001106.3(ACVR2B):c.*1375C>T http://identifiers.org/clinvar/336515 ^@ NM_001135659.2(NRXN1):c.*1911G>T http://identifiers.org/clinvar/336915 ^@ NM_001692.3(ATP6V1B1):c.-34C>T http://identifiers.org/clinvar/336715 ^@ NM_032180.2(FAM161A):c.*1210T>C http://identifiers.org/clinvar/345344 ^@ NM_020208.3(SLC6A20):c.*3408A>G http://identifiers.org/clinvar/337015 ^@ NM_015120.4(ALMS1):c.5562G>A (p.Gln1854=) http://identifiers.org/clinvar/345444 ^@ NM_024513.3(FYCO1):c.*3191G>A http://identifiers.org/clinvar/337115 ^@ NM_006302.2(MOGS):c.-106C>T http://identifiers.org/clinvar/344844 ^@ NM_006371.4(CRTAP):c.*1919A>G http://identifiers.org/clinvar/337265 ^@ NM_000821.6(GGCX):c.1242C>T (p.Thr414=) http://identifiers.org/clinvar/344894 ^@ NM_006371.4(CRTAP):c.*4857A>C http://identifiers.org/clinvar/345794 ^@ NM_000094.3(COL7A1):c.8280A>G (p.Gly2760=) http://identifiers.org/clinvar/344994 ^@ NM_001106.3(ACVR2B):c.*4963T>A http://identifiers.org/clinvar/337315 ^@ NM_198843.2(SFTPB):c.-23G>A http://identifiers.org/clinvar/346094 ^@ NM_153281.1(HYAL1):c.-191+15A>G http://identifiers.org/clinvar/345194 ^@ NM_018075.4(ANO10):c.486C>T (p.Leu162=) http://identifiers.org/clinvar/337565 ^@ NM_014014.4(SNRNP200):c.574+9G>A http://identifiers.org/clinvar/337465 ^@ NM_017849.3(TMEM127):c.*2270dupT http://identifiers.org/clinvar/345244 ^@ NM_016006.4(ABHD5):c.*1613T>C http://identifiers.org/clinvar/337665 ^@ NM_001298.2(CNGA3):c.1746C>T (p.Asp582=) http://identifiers.org/clinvar/342405 ^@ NM_000551.3(VHL):c.*266_*269delTCAG http://identifiers.org/clinvar/342355 ^@ NM_016247.3(IMPG2):c.666+10G>A http://identifiers.org/clinvar/342455 ^@ NM_000551.3(VHL):c.*1960G>A http://identifiers.org/clinvar/346933 ^@ NM_182896.2(ARL13B):c.*2160G>A http://identifiers.org/clinvar/345894 ^@ NM_002222.5(ITPR1):c.8001+13_8001+14delAA http://identifiers.org/clinvar/347083 ^@ NM_005908.3(MANBA):c.2296C>T (p.Arg766Trp) http://identifiers.org/clinvar/347133 ^@ NM_005327.4(HADH):c.240G>A (p.Lys80=) http://identifiers.org/clinvar/345944 ^@ NM_000387.5(SLC25A20):c.-2C>A http://identifiers.org/clinvar/342705 ^@ NM_020754.3(ARHGAP31):c.*1712T>C http://identifiers.org/clinvar/346144 ^@ NM_052859.3(RFT1):c.*2820G>A http://identifiers.org/clinvar/343005 ^@ NM_000373.3(UMPS):c.*3374C>G http://identifiers.org/clinvar/347533 ^@ NM_152778.2(MFSD8):c.*533G>A http://identifiers.org/clinvar/342855 ^@ NM_053025.3(MYLK):c.*258G>T http://identifiers.org/clinvar/347583 ^@ NM_031296.2(RAB33B):c.*1310G>A http://identifiers.org/clinvar/342955 ^@ NM_000373.3(UMPS):c.*1298_*1299delTT http://identifiers.org/clinvar/343055 ^@ NM_025265.3(TSEN2):c.-355C>T http://identifiers.org/clinvar/343255 ^@ NM_052985.3(IFT122):c.2730G>A (p.Glu910=) http://identifiers.org/clinvar/343205 ^@ NM_014049.4(ACAD9):c.1650C>G (p.Ala550=) http://identifiers.org/clinvar/343505 ^@ NM_024334.2(TMEM43):c.333G>A (p.Pro111=) http://identifiers.org/clinvar/343305 ^@ NM_000539.3(RHO):c.*970C>T http://identifiers.org/clinvar/343405 ^@ NM_003571.3(BFSP2):c.379C>G (p.Gln127Glu) http://identifiers.org/clinvar/343455 ^@ NM_000532.4(PCCB):c.-34G>A http://identifiers.org/clinvar/348183 ^@ NM_000860.5(HPGD):c.*941C>T http://identifiers.org/clinvar/348233 ^@ NM_000027.3(AGA):c.623-7C>T http://identifiers.org/clinvar/353571 ^@ NM_002310.5(LIFR):c.*2476G>T http://identifiers.org/clinvar/353721 ^@ NM_004465.1(FGF10):c.624A>G (p.Ser208=) http://identifiers.org/clinvar/358350 ^@ NM_198999.2(SLC26A5):c.1590A>G (p.Lys530=) http://identifiers.org/clinvar/358450 ^@ NM_006348.3(COG5):c.2549A>C (p.Gln850Pro) http://identifiers.org/clinvar/358500 ^@ NM_000441.1(SLC26A4):c.1110A>G (p.Val370=) http://identifiers.org/clinvar/354171 ^@ NM_003719.3(PDE8B):c.2263G>A (p.Asp755Asn) http://identifiers.org/clinvar/358900 ^@ NM_018718.2(CEP41):c.*4007C>T http://identifiers.org/clinvar/358950 ^@ NM_018718.2(CEP41):c.-243G>A http://identifiers.org/clinvar/355161 ^@ NM_000165.4(GJA1):c.837G>A (p.Ser279=) http://identifiers.org/clinvar/355361 ^@ NM_006208.2(ENPP1):c.*457T>A http://identifiers.org/clinvar/355411 ^@ NM_006208.2(ENPP1):c.*3126C>T http://identifiers.org/clinvar/355211 ^@ NM_006073.3(TRDN):c.1805-5dupT http://identifiers.org/clinvar/359789 ^@ NM_001031710.2(KLHL7):c.-271C>T http://identifiers.org/clinvar/359839 ^@ NM_004403.2(DFNA5):c.1348C>T (p.Arg450Cys) http://identifiers.org/clinvar/355511 ^@ NM_017651.4(AHI1):c.282G>A (p.Thr94=) http://identifiers.org/clinvar/359889 ^@ NM_018947.5(CYCS):c.*3495G>A http://identifiers.org/clinvar/355561 ^@ NM_000416.2(IFNGR1):c.368G>A (p.Arg123Gln) http://identifiers.org/clinvar/359989 ^@ NM_006735.3(HOXA2):c.-215T>C http://identifiers.org/clinvar/360039 ^@ NM_000823.3(GHRHR):c.*147A>C http://identifiers.org/clinvar/355461 ^@ NM_172105.3(EYA4):c.*1905T>A http://identifiers.org/clinvar/360189 ^@ NM_000168.5(GLI3):c.*1366C>T http://identifiers.org/clinvar/355661 ^@ NM_003764.3(STX11):c.*4070C>A http://identifiers.org/clinvar/356061 ^@ NM_198586.2(NHLRC1):c.*662C>G http://identifiers.org/clinvar/356111 ^@ NM_000367.4(TPMT):c.*44G>A http://identifiers.org/clinvar/360639 ^@ NM_000501.3(ELN):c.886G>A (p.Ala296Thr) http://identifiers.org/clinvar/355861 ^@ NM_033071.3(SYNE1):c.15812C>T (p.Thr5271Met) http://identifiers.org/clinvar/356211 ^@ NM_001109809.2(ZFP57):c.1472C>G (p.Thr491Ser) http://identifiers.org/clinvar/355911 ^@ NM_033071.3(SYNE1):c.7577+14A>G http://identifiers.org/clinvar/356161 ^@ NM_001080.3(ALDH5A1):c.*1230T>G http://identifiers.org/clinvar/356261 ^@ NM_000063.5(C2):c.2253C>T (p.Pro751=) http://identifiers.org/clinvar/356311 ^@ NM_006929.4(SKIV2L):c.132C>T (p.Pro44=) http://identifiers.org/clinvar/365737 ^@ NM_000093.4(COL5A1):c.*42C>G http://identifiers.org/clinvar/365888 ^@ NM_019892.5(INPP5E):c.1136G>A (p.Arg379Lys) http://identifiers.org/clinvar/365938 ^@ NM_006412.3(AGPAT2):c.-61G>C http://identifiers.org/clinvar/366138 ^@ NM_144966.5(FREM1):c.2796C>T (p.Arg932=) http://identifiers.org/clinvar/366788 ^@ NM_003995.3(NPR2):c.2047+11C>T http://identifiers.org/clinvar/366888 ^@ NM_001042413.1(GLIS3):c.*3351_*3352delTG http://identifiers.org/clinvar/298691 ^@ NM_000494.3(COL17A1):c.3772G>A (p.Asp1258Asn) http://identifiers.org/clinvar/298791 ^@ NM_001134363.2(RBM20):c.1053C>T (p.Asp351=) http://identifiers.org/clinvar/304329 ^@ NM_000280.4(PAX6):c.*2393T>C http://identifiers.org/clinvar/312667 ^@ NM_001376.4(DYNC1H1):c.13707G>C (p.Thr4569=) http://identifiers.org/clinvar/304479 ^@ NM_003477.2(PDHX):c.*259G>T http://identifiers.org/clinvar/298541 ^@ NM_022039.3(FBXW4):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/298941 ^@ NM_004132.4(HABP2):c.*1051C>T http://identifiers.org/clinvar/298591 ^@ NM_016169.3(SUFU):c.*1633C>T http://identifiers.org/clinvar/298641 ^@ NM_017649.4(CNNM2):c.1134C>T (p.Leu378=) http://identifiers.org/clinvar/298741 ^@ NM_000494.3(COL17A1):c.1081C>G (p.Leu361Val) http://identifiers.org/clinvar/298841 ^@ NM_001134363.2(RBM20):c.*2229A>G http://identifiers.org/clinvar/304779 ^@ NM_004813.2(PEX16):c.*324G>A http://identifiers.org/clinvar/313367 ^@ NM_000161.2(GCH1):c.*1230C>T http://identifiers.org/clinvar/304829 ^@ NM_002334.3(LRP4):c.*1662C>A http://identifiers.org/clinvar/313467 ^@ NM_005982.3(SIX1):c.-14G>T http://identifiers.org/clinvar/304929 ^@ NM_000107.2(DDB2):c.1234+9G>A http://identifiers.org/clinvar/299491 ^@ NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) http://identifiers.org/clinvar/299091 ^@ NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) http://identifiers.org/clinvar/299641 ^@ NM_017433.4(MYO3A):c.-50A>G http://identifiers.org/clinvar/299191 ^@ NM_000375.2(UROS):c.338A>T (p.Asp113Val) http://identifiers.org/clinvar/305281 ^@ NM_005609.3(PYGM):c.541G>A (p.Asp181Asn) http://identifiers.org/clinvar/299241 ^@ NM_006214.3(PHYH):c.*47G>A http://identifiers.org/clinvar/305381 ^@ NM_016938.4(EFEMP2):c.872C>T (p.Ala291Val) http://identifiers.org/clinvar/305431 ^@ NM_053054.3(CATSPER1):c.1444G>A (p.Ala482Thr) http://identifiers.org/clinvar/299541 ^@ NM_001081.3(CUBN):c.671G>A (p.Arg224His) http://identifiers.org/clinvar/318358 ^@ NM_001039.3(SCNN1G):c.1569+10G>A http://identifiers.org/clinvar/310323 ^@ NM_000619.2(IFNG):c.*9C>T http://identifiers.org/clinvar/318508 ^@ NM_001083614.1(EARS2):c.*2294T>C http://identifiers.org/clinvar/318608 ^@ NM_020705.2(TBC1D24):c.-53C>T http://identifiers.org/clinvar/310523 ^@ NM_018979.3(WNK1):c.-308G>T http://identifiers.org/clinvar/318808 ^@ NM_001770.5(CD19):c.1274C>T (p.Ser425Phe) http://identifiers.org/clinvar/310628 ^@ NM_025114.3(CEP290):c.503G>A (p.Arg168His) http://identifiers.org/clinvar/310828 ^@ NM_018979.3(WNK1):c.4354A>G (p.Thr1452Ala) http://identifiers.org/clinvar/319208 ^@ NM_032575.2(GLIS2):c.127G>A (p.Val43Met) http://identifiers.org/clinvar/312517 ^@ NM_052910.2(SLITRK1):c.-531C>G http://identifiers.org/clinvar/311478 ^@ NM_000231.2(SGCG):c.-88G>A http://identifiers.org/clinvar/312917 ^@ NM_000257.3(MYH7):c.658A>C (p.Ile220Leu) http://identifiers.org/clinvar/311528 ^@ NM_014363.5(SACS):c.6952G>A (p.Ala2318Thr) http://identifiers.org/clinvar/320298 ^@ NM_004360.4(CDH1):c.*1693G>T http://identifiers.org/clinvar/320348 ^@ NM_001605.2(AARS):c.824G>A (p.Gly275Asp) http://identifiers.org/clinvar/313167 ^@ NM_006194.3(PAX9):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/320398 ^@ NM_000353.2(TAT):c.*252C>G http://identifiers.org/clinvar/313267 ^@ NM_002408.3(MGAT2):c.*769G>T http://identifiers.org/clinvar/320698 ^@ NM_022041.3(GAN):c.*1658T>G http://identifiers.org/clinvar/320748 ^@ NM_012213.2(MLYCD):c.*220A>G http://identifiers.org/clinvar/313517 ^@ NM_182914.2(SYNE2):c.5637+13T>A http://identifiers.org/clinvar/313567 ^@ NM_182914.2(SYNE2):c.12151C>G (p.Gln4051Glu) http://identifiers.org/clinvar/321148 ^@ NM_020686.5(ABAT):c.*2794C>G http://identifiers.org/clinvar/313617 ^@ NM_182914.2(SYNE2):c.16300G>A (p.Glu5434Lys) http://identifiers.org/clinvar/320848 ^@ NM_001127464.2(ZNF469):c.98C>T (p.Pro33Leu) http://identifiers.org/clinvar/321348 ^@ NM_000135.2(FANCA):c.2316+9C>T http://identifiers.org/clinvar/340115 ^@ NM_000100.3(CSTB):c.*355C>G http://identifiers.org/clinvar/321602 ^@ NM_000833.4(GRIN2A):c.3668C>G (p.Thr1223Ser) http://identifiers.org/clinvar/321702 ^@ NM_017534.5(MYH2):c.-10T>C http://identifiers.org/clinvar/321752 ^@ NM_002470.3(MYH3):c.1960-8delT http://identifiers.org/clinvar/312567 ^@ NM_005708.4(GPC6):c.*672A>G http://identifiers.org/clinvar/321852 ^@ NM_000304.3(PMP22):c.*542C>T http://identifiers.org/clinvar/328989 ^@ NM_000540.2(RYR1):c.-69T>G http://identifiers.org/clinvar/329039 ^@ NM_000540.2(RYR1):c.5548-9G>T http://identifiers.org/clinvar/329239 ^@ NM_016941.3(DLL3):c.1383A>C (p.Gly461=) http://identifiers.org/clinvar/368656 ^@ NM_004299.4(ABCB7):c.1495G>A (p.Gly499Arg) http://identifiers.org/clinvar/329389 ^@ NM_001022.3(RPS19):c.1-14A>G http://identifiers.org/clinvar/329439 ^@ NM_014297.4(ETHE1):c.*55G>T http://identifiers.org/clinvar/329639 ^@ NM_025136.3(OPA3):c.*2518A>G http://identifiers.org/clinvar/328589 ^@ NM_005535.2(IL12RB1):c.930G>A (p.Ser310=) http://identifiers.org/clinvar/328689 ^@ NM_001031726.3(C19orf12):c.*2100G>T http://identifiers.org/clinvar/328739 ^@ NM_014270.4(SLC7A9):c.*82C>T http://identifiers.org/clinvar/328789 ^@ NM_000285.3(PEPD):c.1311C>T (p.Arg437=) http://identifiers.org/clinvar/328839 ^@ NM_001863.4(COX6B1):c.-47A>G http://identifiers.org/clinvar/328889 ^@ NM_003332.3(TYROBP):c.*103T>A http://identifiers.org/clinvar/329189 ^@ NM_033064.4(ATCAY):c.*1761C>T http://identifiers.org/clinvar/329289 ^@ NM_181882.2(PRX):c.379C>T (p.Leu127=) http://identifiers.org/clinvar/329539 ^@ NM_202001.2(ERCC1):c.-73dupG http://identifiers.org/clinvar/329739 ^@ NM_000554.5(CRX):c.*1289G>A http://identifiers.org/clinvar/329789 ^@ NM_000146.3(FTL):c.*131A>T http://identifiers.org/clinvar/329839 ^@ NM_017636.3(TRPM4):c.92+12G>A http://identifiers.org/clinvar/340165 ^@ NM_000211.4(ITGB2):c.742-5C>G http://identifiers.org/clinvar/340265 ^@ NM_130445.3(COL18A1):c.3358G>A (p.Ala1120Thr) http://identifiers.org/clinvar/340315 ^@ NM_001848.2(COL6A1):c.1209C>G (p.Pro403=) http://identifiers.org/clinvar/340365 ^@ NM_001849.3(COL6A2):c.903C>T (p.Gly301=) http://identifiers.org/clinvar/340415 ^@ NM_006657.2(FTCD):c.1443+9delG http://identifiers.org/clinvar/340666 ^@ NM_014339.6(IL17RA):c.*2838_*2839delCT http://identifiers.org/clinvar/340966 ^@ NM_022081.5(HPS4):c.*1594G>C http://identifiers.org/clinvar/341316 ^@ NM_012179.3(FBXO7):c.1125A>G (p.Leu375=) http://identifiers.org/clinvar/377720 ^@ NM_000093.4(COL5A1):c.513C>T (p.Ser171=) http://identifiers.org/clinvar/380120 ^@ NM_007078.2(LDB3):c.-146G>T http://identifiers.org/clinvar/388696 ^@ NM_001128227.2(GNE):c.1326C>T (p.Ala442=) http://identifiers.org/clinvar/386707 ^@ NM_001080463.1(DYNC2H1):c.1661+16T>C http://identifiers.org/clinvar/391235 ^@ NM_005431.1(XRCC2):c.842G>A (p.Ter281=) http://identifiers.org/clinvar/391035 ^@ NM_002047.3(GARS):c.638G>A (p.Arg213His) http://identifiers.org/clinvar/377520 ^@ NM_000051.3(ATM):c.6096-14A>G http://identifiers.org/clinvar/382715 ^@ NM_000535.6(PMS2):c.2175A>T (p.Ala725=) http://identifiers.org/clinvar/391135 ^@ NM_001497.3(B4GALT1):c.987T>C (p.Ser329=) http://identifiers.org/clinvar/380923 ^@ NM_006096.3(NDRG1):c.393G>A (p.Leu131=) http://identifiers.org/clinvar/389046 ^@ NM_018109.3(MTPAP):c.1128A>G (p.Thr376=) http://identifiers.org/clinvar/384217 ^@ NM_030813.5(CLPB):c.1650+11T>C http://identifiers.org/clinvar/386207 ^@ NM_000051.3(ATM):c.332-5A>T http://identifiers.org/clinvar/380872 ^@ NM_024531.4(SLC52A2):c.-110-5T>C http://identifiers.org/clinvar/379080 ^@ NM_007078.2(LDB3):c.-19G>A http://identifiers.org/clinvar/387107 ^@ NM_012463.3(ATP6V0A2):c.968G>A (p.Cys323Tyr) http://identifiers.org/clinvar/385168 ^@ NM_000051.3(ATM):c.3154-20C>T http://identifiers.org/clinvar/383015 ^@ NM_006231.3(POLE):c.996T>C (p.Phe332=) http://identifiers.org/clinvar/383566 ^@ NM_000051.3(ATM):c.8851-10C>T http://identifiers.org/clinvar/388996 ^@ NM_006831.2(CLP1):c.798G>A (p.Leu266=) http://identifiers.org/clinvar/380671 ^@ NM_005002.4(NDUFA9):c.656-6C>T http://identifiers.org/clinvar/388596 ^@ NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) http://identifiers.org/clinvar/386957 ^@ NM_000368.4(TSC1):c.-44G>A http://identifiers.org/clinvar/386157 ^@ NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) http://identifiers.org/clinvar/391335 ^@ NM_000059.3(BRCA2):c.7296A>G (p.Arg2432=) http://identifiers.org/clinvar/387057 ^@ NM_020751.2(COG6):c.855C>T (p.Leu285=) http://identifiers.org/clinvar/386757 ^@ NM_001376.4(DYNC1H1):c.10627-16C>T http://identifiers.org/clinvar/384317 ^@ NM_001376.4(DYNC1H1):c.12685-3C>T http://identifiers.org/clinvar/386307 ^@ NM_002905.3(RDH5):c.570-8G>C http://identifiers.org/clinvar/383516 ^@ NM_024537.3(CARS2):c.855C>T (p.Asn285=) http://identifiers.org/clinvar/381123 ^@ NM_024490.3(ATP10A):c.1364-4G>T http://identifiers.org/clinvar/380973 ^@ NM_001036.4(RYR3):c.4296C>T (p.Gly1432=) http://identifiers.org/clinvar/389096 ^@ NM_002206.2(ITGA7):c.2958+16G>A http://identifiers.org/clinvar/383316 ^@ NM_000075.3(CDK4):c.-9G>T http://identifiers.org/clinvar/389146 ^@ NM_001613.2(ACTA2):c.622C>T (p.Arg208Cys) http://identifiers.org/clinvar/377820 ^@ NM_001376.4(DYNC1H1):c.12684+14A>G http://identifiers.org/clinvar/382565 ^@ NM_022489.3(INF2):c.668-12G>A http://identifiers.org/clinvar/382915 ^@ NM_001271.3(CHD2):c.1017G>A (p.Glu339=) http://identifiers.org/clinvar/377770 ^@ NM_001931.4(DLAT):c.-15G>A http://identifiers.org/clinvar/383115 ^@ NM_001376.4(DYNC1H1):c.706G>A (p.Val236Ile) http://identifiers.org/clinvar/389896 ^@ NM_006888.4(CALM1):c.324C>T (p.His108=) http://identifiers.org/clinvar/382815 ^@ NM_005159.4(ACTC1):c.130-15T>G http://identifiers.org/clinvar/389796 ^@ NM_003366.3(UQCRC2):c.1279-16G>C http://identifiers.org/clinvar/380421 ^@ NM_017882.2(CLN6):c.487-13G>A http://identifiers.org/clinvar/391435 ^@ NM_016013.3(NDUFAF1):c.543G>A (p.Gly181=) http://identifiers.org/clinvar/388946 ^@ NM_002693.2(POLG):c.21G>A (p.Arg7=) http://identifiers.org/clinvar/381273 ^@ NM_001605.2(AARS):c.2265C>T (p.Val755=) http://identifiers.org/clinvar/381023 ^@ NM_002474.2(MYH11):c.1575+7G>A http://identifiers.org/clinvar/384618 ^@ NM_002768.4(CHMP1A):c.507C>T (p.Pro169=) http://identifiers.org/clinvar/47421 ^@ NM_133378.4(TTN):c.75467T>G (p.Val25156Gly) http://identifiers.org/clinvar/47472 ^@ NM_133378.4(TTN):c.80324G>A (p.Arg26775His) http://identifiers.org/clinvar/47522 ^@ NM_001256850.1(TTN):c.87410C>G (p.Thr29137Arg) http://identifiers.org/clinvar/47572 ^@ NM_001256850.1(TTN):c.91981+4T>C http://identifiers.org/clinvar/47622 ^@ NM_001256850.1(TTN):c.95068T>C (p.Cys31690Arg) http://identifiers.org/clinvar/47672 ^@ NM_133378.4(TTN):c.96710G>T (p.Arg32237Leu) http://identifiers.org/clinvar/47722 ^@ NM_133378.4(TTN):c.99901A>G (p.Ser33301Gly) http://identifiers.org/clinvar/47772 ^@ NM_133379.4(TTN):c.14331G>C (p.Gly4777=) http://identifiers.org/clinvar/47822 ^@ NM_001256850.1(TTN):c.11283C>G (p.Thr3761=) http://identifiers.org/clinvar/47872 ^@ NM_138691.2(TMC1):c.403G>A (p.Gly135Arg) http://identifiers.org/clinvar/47922 ^@ NM_144612.6(LOXHD1):c.1876G>T (p.Gly626Cys) http://identifiers.org/clinvar/47972 ^@ NM_153676.3(USH1C):c.105-16C>T http://identifiers.org/clinvar/48024 ^@ NM_153676.3(USH1C):c.760-4C>T http://identifiers.org/clinvar/48074 ^@ NM_005572.3(LMNA):c.673C>T (p.Arg225Ter) http://identifiers.org/clinvar/48124 ^@ NM_000337.5(SGCD):c.699+71G>A http://identifiers.org/clinvar/48174 ^@ NM_194248.2(OTOF):c.157G>A (p.Ala53Thr) http://identifiers.org/clinvar/48224 ^@ NM_194248.2(OTOF):c.3734-13T>C http://identifiers.org/clinvar/48274 ^@ NM_194248.2(OTOF):c.766-3C>T http://identifiers.org/clinvar/48325 ^@ NM_201555.1(FHL2):c.530G>A (p.Arg177Gln) http://identifiers.org/clinvar/48375 ^@ NM_206933.2(USH2A):c.11411delC (p.Pro3804Leufs) http://identifiers.org/clinvar/48425 ^@ NM_206933.2(USH2A):c.14027A>G (p.Gln4676Arg) http://identifiers.org/clinvar/48475 ^@ NM_206933.2(USH2A):c.1816G>C (p.Asp606His) http://identifiers.org/clinvar/23 ^@ NM_001006657.1(WDR35):c.2623G>A (p.Ala875Thr) http://identifiers.org/clinvar/294 ^@ NM_000552.4(VWF):c.2372C>T (p.Thr791Met) http://identifiers.org/clinvar/308 ^@ NM_000552.4(VWF):c.3614G>A (p.Arg1205His) http://identifiers.org/clinvar/318 ^@ NM_000552.4(VWF):c.1583A>G (p.Asn528Ser) http://identifiers.org/clinvar/487 ^@ RNF168, 1-BP DUP, 397G http://identifiers.org/clinvar/533 ^@ DCAF17, IVS10, T-G, +6 http://identifiers.org/clinvar/565 ^@ NM_018344.5(SLC29A3):c.1309G>A (p.Gly437Arg) http://identifiers.org/clinvar/829 ^@ NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) http://identifiers.org/clinvar/907 ^@ NM_000181.3(GUSB):c.1881G>T (p.Trp627Cys) http://identifiers.org/clinvar/990 ^@ NM_020800.2(IFT80):c.1645_1647delTTA (p.Leu549del) http://identifiers.org/clinvar/1075 ^@ RPGRIP1L, 1-BP DEL, 1721A http://identifiers.org/clinvar/1084 ^@ ZFAT1, IVS9, A-T http://identifiers.org/clinvar/1163 ^@ NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) http://identifiers.org/clinvar/1208 ^@ NM_000429.2(MAT1A):c.791G>A (p.Arg264His) http://identifiers.org/clinvar/1259 ^@ NM_001146289.1(P3H1):c.2073G>A (p.Ala691=) http://identifiers.org/clinvar/1303 ^@ DFNB59, 1-BP DEL, 122A http://identifiers.org/clinvar/1349 ^@ NM_019032.5(ADAMTSL4):c.1785T>G (p.Tyr595Ter) http://identifiers.org/clinvar/1395 ^@ NM_018418.4(SPATA7):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/2163 ^@ NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) http://identifiers.org/clinvar/2209 ^@ NM_024006.5(VKORC1):c.172A>G (p.Arg58Gly) http://identifiers.org/clinvar/2254 ^@ NM_000265.5(NCF1):c.333T>A (p.Cys111Ter) http://identifiers.org/clinvar/2575 ^@ APOC2, 1-BP INS http://identifiers.org/clinvar/2620 ^@ NM_013389.2(NPC1L1):c.163G>T (p.Val55Leu) http://identifiers.org/clinvar/2667 ^@ NM_182760.3(SUMF1):c.1046G>A (p.Arg349Gln) http://identifiers.org/clinvar/2713 ^@ FERMT1, IVS3DS, T-C, +2 http://identifiers.org/clinvar/2759 ^@ NM_014319.4(LEMD3):c.1963C>T (p.Arg655Ter) http://identifiers.org/clinvar/2803 ^@ NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) http://identifiers.org/clinvar/2849 ^@ NM_020184.3(CNNM4):c.971T>C (p.Leu324Pro) http://identifiers.org/clinvar/2895 ^@ NM_000419.4(ITGA2B):c.1544+1G>A http://identifiers.org/clinvar/2986 ^@ NM_000543.4(SMPD1):c.1152G>A (p.Met384Ile) http://identifiers.org/clinvar/3030 ^@ NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) http://identifiers.org/clinvar/3129 ^@ KCNQ1, 3-BP DEL, PHE339DEL http://identifiers.org/clinvar/3224 ^@ NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) http://identifiers.org/clinvar/3273 ^@ NM_024529.4(CDC73):c.53delT (p.Ile18Metfs) http://identifiers.org/clinvar/3318 ^@ NM_020436.4(SALL4):c.1954C>T (p.Gln652Ter) http://identifiers.org/clinvar/10523 ^@ GPR143, 14-BP DEL, NT816 http://identifiers.org/clinvar/10569 ^@ F9, ARG-4GLN http://identifiers.org/clinvar/10613 ^@ NM_000133.3(F9):c.1136G>A (p.Arg379Gln) http://identifiers.org/clinvar/10659 ^@ F9, ALA-10THR http://identifiers.org/clinvar/10704 ^@ AMER1, 1-BP DEL, 671C http://identifiers.org/clinvar/10795 ^@ NM_020717.3(SHROOM4):c.3266C>T (p.Ser1089Leu) http://identifiers.org/clinvar/10885 ^@ NM_000284.3(PDHA1):c.844A>C (p.Met282Leu) http://identifiers.org/clinvar/10930 ^@ CYBB, IVS3, G-A, +5 http://identifiers.org/clinvar/10977 ^@ NM_000475.4(NR0B1):c.109C>T (p.Gln37Ter) http://identifiers.org/clinvar/11020 ^@ NM_001184880.1(PCDH19):c.142G>T (p.Glu48Ter) http://identifiers.org/clinvar/11066 ^@ NM_001015877.1(PHF6):c.134G>A (p.Cys45Tyr) http://identifiers.org/clinvar/11110 ^@ NM_000116.4(TAZ):c.280C>A (p.Arg94Ser) http://identifiers.org/clinvar/11157 ^@ NM_000074.2(CD40LG):c.703G>C (p.Ala235Pro) http://identifiers.org/clinvar/11201 ^@ NM_139058.2(ARX):c.1105G>T (p.Glu369Ter) http://identifiers.org/clinvar/11247 ^@ NM_004006.2(DMD):c.1489C>T (p.Gln497Ter) http://identifiers.org/clinvar/11292 ^@ NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys) http://identifiers.org/clinvar/11337 ^@ TBX22, 1-BP DEL, 1252G http://identifiers.org/clinvar/11383 ^@ NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) http://identifiers.org/clinvar/11544 ^@ NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs) http://identifiers.org/clinvar/11594 ^@ NM_001363.4(DKC1):c.91C>A (p.Gln31Lys) http://identifiers.org/clinvar/11644 ^@ NM_005676.4(RBM10):c.1235G>A (p.Trp412Ter) http://identifiers.org/clinvar/11695 ^@ NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) http://identifiers.org/clinvar/11746 ^@ NM_000489.4(ATRX):c.6811A>G (p.Arg2271Gly) http://identifiers.org/clinvar/11797 ^@ NM_000084.4(CLCN5):c.1942C>T (p.Arg648Ter) http://identifiers.org/clinvar/11847 ^@ NM_000260.3(MYO7A):c.448C>T (p.Arg150Ter) http://identifiers.org/clinvar/11897 ^@ NM_000128.3(F11):c.1211C>A (p.Thr404Asn) http://identifiers.org/clinvar/11947 ^@ NM_001918.3(DBT):c.1448G>T (p.Ter483Leu) http://identifiers.org/clinvar/11999 ^@ NM_000151.3(G6PC):c.883C>T (p.Arg295Cys) http://identifiers.org/clinvar/12049 ^@ NM_000136.2(FANCC):c.67delG (p.Asp23Ilefs) http://identifiers.org/clinvar/12099 ^@ NM_000196.3(HSD11B2):c.680C>T (p.Pro227Leu) http://identifiers.org/clinvar/12149 ^@ BBS1, 1-BP DEL, 1650C http://identifiers.org/clinvar/12204 ^@ NM_000490.4(AVP):c.262G>A (p.Gly88Ser) http://identifiers.org/clinvar/12255 ^@ NM_003361.3(UMOD):c.443G>A (p.Cys148Tyr) http://identifiers.org/clinvar/12306 ^@ NTRK1, IVS7AS, T-A, -33 http://identifiers.org/clinvar/12357 ^@ NM_000546.5(TP53):c.398T>C (p.Met133Thr) http://identifiers.org/clinvar/12408 ^@ NM_001001430.2(TNNT2):c.236T>A (p.Ile79Asn) http://identifiers.org/clinvar/12460 ^@ NM_003289.3(TPM2):c.271C>G (p.Arg91Gly) http://identifiers.org/clinvar/12510 ^@ NM_003242.5(TGFBR2):c.1069G>T (p.Gly357Trp) http://identifiers.org/clinvar/12560 ^@ THRB, 1-BP INS, 1644C http://identifiers.org/clinvar/12611 ^@ NM_005343.3(HRAS):c.437C>T (p.Ala146Val) http://identifiers.org/clinvar/12661 ^@ NM_133378.4(TTN):c.97820_97827delACCAAGTG (p.Gln32608Hisfs) http://identifiers.org/clinvar/12712 ^@ NM_001060.5(TBXA2R):c.179G>T (p.Arg60Leu) http://identifiers.org/clinvar/12763 ^@ SURF1, 1-BP INS, 868T http://identifiers.org/clinvar/12813 ^@ NM_000899.4(KITLG):c.107A>G (p.Asn36Ser) http://identifiers.org/clinvar/12863 ^@ NM_003126.2(SPTA1):c.5190_5310del http://identifiers.org/clinvar/12914 ^@ NM_152296.4(ATP1A3):c.2401G>T (p.Asp801Tyr) http://identifiers.org/clinvar/13015 ^@ NM_000539.3(RHO):c.1039C>T (p.Pro347Ser) http://identifiers.org/clinvar/36650 ^@ NM_033118.3(MYLK2):c.1584G>A (p.Arg528=) http://identifiers.org/clinvar/36703 ^@ NM_002769.4(PRSS1):c.-30_-28delTCC http://identifiers.org/clinvar/36756 ^@ NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr) http://identifiers.org/clinvar/36806 ^@ NM_000545.6(HNF1A):c.1624-15G>A http://identifiers.org/clinvar/37901 ^@ NM_000059.3(BRCA2):c.4414_4415delAA (p.Lys1472Glufs) http://identifiers.org/clinvar/37955 ^@ NM_000059.3(BRCA2):c.5266_5269delGTAT (p.Val1756Ilefs) http://identifiers.org/clinvar/38007 ^@ NM_000059.3(BRCA2):c.5909C>A (p.Ser1970Ter) http://identifiers.org/clinvar/38062 ^@ NM_000059.3(BRCA2):c.6724_6725delGA (p.Asp2242Phefs) http://identifiers.org/clinvar/38112 ^@ NM_000059.3(BRCA2):c.7643A>G (p.His2548Arg) http://identifiers.org/clinvar/38262 ^@ NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) http://identifiers.org/clinvar/38324 ^@ NM_000168.5(GLI3):c.3386_3387delTT (p.Phe1129Terfs) http://identifiers.org/clinvar/38381 ^@ NM_005211.3(CSF1R):c.2546_2548delTCT (p.Phe849del) http://identifiers.org/clinvar/38439 ^@ NM_001256850.1(TTN):c.102966delA (p.Lys34322Asnfs) http://identifiers.org/clinvar/38597 ^@ NM_020630.4(RET):c.1831T>A (p.Cys611Ser) http://identifiers.org/clinvar/38764 ^@ NM_000495.4(COL4A5):c.2483G>A (p.Gly828Glu) http://identifiers.org/clinvar/38877 ^@ NM_000532.4(PCCB):c.1490C>T (p.Ala497Val) http://identifiers.org/clinvar/38938 ^@ NM_001363.4(DKC1):c.1193T>C (p.Leu398Pro) http://identifiers.org/clinvar/38989 ^@ NM_004614.4(TK2):c.389G>A (p.Arg130Gln) http://identifiers.org/clinvar/39040 ^@ NM_024312.4(GNPTAB):c.1759C>T (p.Arg587Ter) http://identifiers.org/clinvar/39090 ^@ NM_024312.4(GNPTAB):c.857dupA (p.Asn287Glufs) http://identifiers.org/clinvar/39147 ^@ NM_198578.3(LRRK2):c.225G>A (p.Ala75=) http://identifiers.org/clinvar/39197 ^@ NM_198578.3(LRRK2):c.4872C>A (p.Gly1624=) http://identifiers.org/clinvar/39248 ^@ NM_207352.3(CYP4V2):c.1020G>A (p.Trp340Ter) http://identifiers.org/clinvar/39299 ^@ NR_001566.1(TERC):n.53_87del35 http://identifiers.org/clinvar/39461 ^@ NM_001111.4(ADAR):c.2615T>C (p.Ile872Thr) http://identifiers.org/clinvar/39512 ^@ NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys) http://identifiers.org/clinvar/39562 ^@ PNPLA1, ALA59VAL http://identifiers.org/clinvar/39613 ^@ NM_001101426.3(ISPD):c.256A>T (p.Arg86Ter) http://identifiers.org/clinvar/39664 ^@ SYNGAP1, 501, G-A, -1 http://identifiers.org/clinvar/39716 ^@ NM_006080.2(SEMA3A):c.1303G>A (p.Val435Ile) http://identifiers.org/clinvar/39767 ^@ NM_001866.2(COX7B):c.196delC (p.Leu66Cysfs) http://identifiers.org/clinvar/39868 ^@ NM_020376.3(PNPLA2):c.467delC (p.Pro156Leufs) http://identifiers.org/clinvar/40052 ^@ NM_001310338.1(MGME1):c.743A>G (p.Tyr248Cys) http://identifiers.org/clinvar/40207 ^@ NM_014813.2(LRIG2):c.2125C>T (p.Arg709Ter) http://identifiers.org/clinvar/40346 ^@ NM_004333.4(BRAF):c.730A>C (p.Thr244Pro) http://identifiers.org/clinvar/40418 ^@ NM_005188.3(CBL):c.2216C>T (p.Ser739Phe) http://identifiers.org/clinvar/40486 ^@ NM_002834.4(PTPN11):c.172A>C (p.Asn58His) http://identifiers.org/clinvar/51204 ^@ NM_000059.3(BRCA2):c.1815dupA (p.Pro606Thrfs) http://identifiers.org/clinvar/51256 ^@ NM_000059.3(BRCA2):c.2221G>T (p.Val741Leu) http://identifiers.org/clinvar/51357 ^@ NM_000059.3(BRCA2):c.2836delG (p.Asp946Ilefs) http://identifiers.org/clinvar/52273 ^@ NM_000059.3(BRCA2):c.7151_7152delAA (p.Gln2384Argfs) http://identifiers.org/clinvar/52323 ^@ NM_000059.3(BRCA2):c.7418G>A (p.Cys2473Tyr) http://identifiers.org/clinvar/52373 ^@ NM_000059.3(BRCA2):c.7631G>A (p.Gly2544Asp) http://identifiers.org/clinvar/52424 ^@ NM_000059.3(BRCA2):c.7832A>G (p.Asp2611Gly) http://identifiers.org/clinvar/52474 ^@ NM_000059.3(BRCA2):c.8021delA (p.Lys2674Argfs) http://identifiers.org/clinvar/52524 ^@ NM_000059.3(BRCA2):c.818C>G (p.Ser273Ter) http://identifiers.org/clinvar/52575 ^@ NM_000059.3(BRCA2):c.8396G>C (p.Arg2799Thr) http://identifiers.org/clinvar/52625 ^@ NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) http://identifiers.org/clinvar/52677 ^@ NM_000059.3(BRCA2):c.8774A>G (p.Gln2925Arg) http://identifiers.org/clinvar/52727 ^@ NM_000059.3(BRCA2):c.9016_9017delTA (p.Tyr3006Glnfs) http://identifiers.org/clinvar/52778 ^@ NM_000059.3(BRCA2):c.9215T>A (p.Val3072Glu) http://identifiers.org/clinvar/52829 ^@ NM_000059.3(BRCA2):c.93G>A (p.Trp31Ter) http://identifiers.org/clinvar/52880 ^@ NM_000059.3(BRCA2):c.9648+10T>G http://identifiers.org/clinvar/52930 ^@ NM_000218.2(KCNQ1):c.1017_1019delCTT (p.Phe340del) http://identifiers.org/clinvar/52980 ^@ NM_000218.2(KCNQ1):c.1354C>T (p.Arg452Trp) http://identifiers.org/clinvar/53030 ^@ NM_000218.2(KCNQ1):c.211_219dupGCCGCGCCC (p.Pro73_Pro74insAlaAlaPro) http://identifiers.org/clinvar/53080 ^@ NM_000218.2(KCNQ1):c.626C>T (p.Ser209Phe) http://identifiers.org/clinvar/53131 ^@ NM_000218.2(KCNQ1):c.926C>G (p.Thr309Arg) http://identifiers.org/clinvar/53183 ^@ NM_000492.3(CFTR):c.1081T>A (p.Trp361Arg) http://identifiers.org/clinvar/53236 ^@ NM_000492.3(CFTR):c.1366G>T (p.Val456Phe) http://identifiers.org/clinvar/53286 ^@ NM_000492.3(CFTR):c.1584+1G>T http://identifiers.org/clinvar/53337 ^@ NM_000492.3(CFTR):c.1680-26T>C http://identifiers.org/clinvar/53387 ^@ NM_000492.3(CFTR):c.1792A>T (p.Lys598Ter) http://identifiers.org/clinvar/53439 ^@ NM_000492.3(CFTR):c.2089dupA (p.Arg697Lysfs) http://identifiers.org/clinvar/53492 ^@ NM_000492.3(CFTR):c.2464G>T (p.Glu822Ter) http://identifiers.org/clinvar/53542 ^@ NM_000492.3(CFTR):c.2679G>T (p.Gly893=) http://identifiers.org/clinvar/56490 ^@ NM_004646.3(NPHS1):c.286C>G (p.Leu96Val) http://identifiers.org/clinvar/56541 ^@ NM_006493.2(CLN5):c.613C>T (p.Pro205Ser) http://identifiers.org/clinvar/56594 ^@ NM_017739.3(POMGNT1):c.1895+1_1895+4delGTGA http://identifiers.org/clinvar/56649 ^@ NM_017890.4(VPS13B):c.2047delC (p.Gln683Serfs) http://identifiers.org/clinvar/56699 ^@ NM_017890.4(VPS13B):c.9406-1G>T http://identifiers.org/clinvar/56749 ^@ NM_030943.3(AMN):c.14delG (p.Gly5Alafs) http://identifiers.org/clinvar/56825 ^@ SMAD2, TRP244CYS http://identifiers.org/clinvar/101197 ^@ NM_000090.3(COL3A1):c.1475G>A (p.Gly492Glu) http://identifiers.org/clinvar/101247 ^@ NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg) http://identifiers.org/clinvar/101297 ^@ NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) http://identifiers.org/clinvar/101347 ^@ NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys) http://identifiers.org/clinvar/101397 ^@ NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp) http://identifiers.org/clinvar/101447 ^@ NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) http://identifiers.org/clinvar/101499 ^@ NM_003611.2(OFD1):c.935+706A>G http://identifiers.org/clinvar/103125 ^@ NM_022162.2(NOD2):c.2631-316A>G http://identifiers.org/clinvar/103175 ^@ NM_032206.4(NLRC5):c.3338+50C>T http://identifiers.org/clinvar/103225 ^@ NM_134444.4(NLRP4):c.2697-194C>G http://identifiers.org/clinvar/103275 ^@ NM_145007.3(NLRP11):c.2454C>T (p.Tyr818=) http://identifiers.org/clinvar/103325 ^@ NM_176811.2(NLRP8):c.2214-57A>C http://identifiers.org/clinvar/103375 ^@ NM_178844.3(NLRC3):c.363C>T (p.Thr121=) http://identifiers.org/clinvar/111249 ^@ NM_005534.3(IFNGR2):c.562-93C>T http://identifiers.org/clinvar/120184 ^@ NM_032861.3(SERAC1):c.202C>T (p.Arg68Ter) http://identifiers.org/clinvar/120261 ^@ NM_000277.1(PAH):c.1171A>G (p.Ser391Gly) http://identifiers.org/clinvar/120311 ^@ NM_024605.3(ARHGAP10):c.716T>A (p.Phe239Tyr) http://identifiers.org/clinvar/125468 ^@ NM_007294.3(BRCA1):c.-19-115T>C http://identifiers.org/clinvar/125546 ^@ NM_007294.3(BRCA1):c.2214delT (p.Val740Cysfs) http://identifiers.org/clinvar/125629 ^@ NM_007294.3(BRCA1):c.3330_3331insA (p.Gln1111Thrfs) http://identifiers.org/clinvar/125696 ^@ U14680.1:n.4305-1643_del3835 http://identifiers.org/clinvar/125759 ^@ NM_007294.3(BRCA1):c.5075-1G>C http://identifiers.org/clinvar/125833 ^@ NM_007294.3(BRCA1):c.5370_5397del28 (p.Val1791Leufs) http://identifiers.org/clinvar/125896 ^@ NM_007294.3(BRCA1):c.594-15G>C http://identifiers.org/clinvar/125958 ^@ NM_000059.3(BRCA2):c.-34T>C http://identifiers.org/clinvar/126022 ^@ NM_000059.3(BRCA2):c.3807T>C (p.Val1269=) http://identifiers.org/clinvar/126096 ^@ NM_000059.3(BRCA2):c.426-12G>A http://identifiers.org/clinvar/126156 ^@ NM_000059.3(BRCA2):c.7764A>T (p.Ile2588=) http://identifiers.org/clinvar/126216 ^@ NM_000059.3(BRCA2):c.9649-6_9649-5insT http://identifiers.org/clinvar/126274 ^@ NM_017777.3(MKS1):c.858+9A>G http://identifiers.org/clinvar/126325 ^@ NM_020732.3(ARID1B):c.3025+38C>T http://identifiers.org/clinvar/126381 ^@ NM_020347.3(LZTFL1):c.778G>T (p.Glu260Ter) http://identifiers.org/clinvar/126445 ^@ NM_000097.5(CPOX):c.980A>G (p.His327Arg) http://identifiers.org/clinvar/126505 ^@ NM_012338.3(TSPAN12):c.146C>T (p.Thr49Met) http://identifiers.org/clinvar/178350 ^@ NM_024009.2(GJB3):c.64C>T (p.Arg22Cys) http://identifiers.org/clinvar/180108 ^@ NM_144573.3(NEXN):c.865-5G>A http://identifiers.org/clinvar/164807 ^@ NM_002524.4(NRAS):c.159G>A (p.Leu53=) http://identifiers.org/clinvar/178869 ^@ NM_133378.4(TTN):c.81407A>G (p.Tyr27136Cys) http://identifiers.org/clinvar/179908 ^@ NM_133378.4(TTN):c.78413G>A (p.Arg26138Gln) http://identifiers.org/clinvar/166006 ^@ NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro) http://identifiers.org/clinvar/166512 ^@ NM_206933.2(USH2A):c.3139C>G (p.Leu1047Val) http://identifiers.org/clinvar/178150 ^@ NM_001267550.2(TTN):c.107961T>C (p.His35987=) http://identifiers.org/clinvar/178818 ^@ NM_133378.4(TTN):c.99953A>G (p.Lys33318Arg) http://identifiers.org/clinvar/165956 ^@ NM_133378.4(TTN):c.49408-11T>C http://identifiers.org/clinvar/178650 ^@ NM_206933.2(USH2A):c.8315C>T (p.Thr2772Ile) http://identifiers.org/clinvar/179958 ^@ NM_007123.5(USH2A):c.3045C>G (p.His1015Gln) http://identifiers.org/clinvar/165860 ^@ NM_001256850.1(TTN):c.65179A>G (p.Ile21727Val) http://identifiers.org/clinvar/178200 ^@ NM_001256850.1(TTN):c.60611C>T (p.Pro20204Leu) http://identifiers.org/clinvar/180058 ^@ NM_001256850.1(TTN):c.92569+1G>C http://identifiers.org/clinvar/165698 ^@ NM_133378.4(TTN):c.89200+8C>T http://identifiers.org/clinvar/179808 ^@ NM_133378.4(TTN):c.42028G>T (p.Asp14010Tyr) http://identifiers.org/clinvar/166150 ^@ NM_133378.4(TTN):c.21430C>T (p.Pro7144Ser) http://identifiers.org/clinvar/166262 ^@ NM_133379.4(TTN):c.13888C>G (p.Leu4630Val) http://identifiers.org/clinvar/178250 ^@ NM_133378.4(TTN):c.14593A>G (p.Lys4865Glu) http://identifiers.org/clinvar/166312 ^@ NM_133378.4(TTN):c.6844T>C (p.Tyr2282His) http://identifiers.org/clinvar/179708 ^@ NM_133378.4(TTN):c.1691C>T (p.Ala564Val) http://identifiers.org/clinvar/178919 ^@ NM_133378.4(TTN):c.5503C>A (p.Gln1835Lys) http://identifiers.org/clinvar/165206 ^@ NM_198843.2(SFTPB):c.232-8C>A http://identifiers.org/clinvar/178600 ^@ NM_178335.2(CCDC50):c.626C>T (p.Ser209Leu) http://identifiers.org/clinvar/165149 ^@ NM_198056.2(SCN5A):c.2990C>A (p.Ala997Asp) http://identifiers.org/clinvar/166600 ^@ NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) http://identifiers.org/clinvar/177646 ^@ NM_005228.4(EGFR):c.2125G>A (p.Glu709Lys) http://identifiers.org/clinvar/177848 ^@ NM_005228.4(EGFR):c.2239_2257del19insCAAT (p.Leu747_Pro753delinsGlnSer) http://identifiers.org/clinvar/198445 ^@ NM_000480.2(AMPD3):c.1043C>T (p.Thr348Met) http://identifiers.org/clinvar/198498 ^@ NM_003722.4(TP63):c.992+10G>A http://identifiers.org/clinvar/198550 ^@ NM_177439.2(FTSJ1):c.468G>A (p.Lys156=) http://identifiers.org/clinvar/198602 ^@ NM_032634.3(PIGO):c.2268G>A (p.Ala756=) http://identifiers.org/clinvar/198919 ^@ NM_153026.2(PRICKLE1):c.2002T>A (p.Ser668Thr) http://identifiers.org/clinvar/198971 ^@ NM_005529.6(HSPG2):c.12004C>G (p.Leu4002Val) http://identifiers.org/clinvar/199022 ^@ NM_000440.2(PDE6A):c.1214A>G (p.Asn405Ser) http://identifiers.org/clinvar/199072 ^@ NM_001853.3(COL9A3):c.468C>T (p.Pro156=) http://identifiers.org/clinvar/199127 ^@ NM_012448.3(STAT5B):c.1101C>A (p.Pro367=) http://identifiers.org/clinvar/199177 ^@ NM_033028.4(BBS4):c.627A>T (p.Gly209=) http://identifiers.org/clinvar/199233 ^@ NM_000540.2(RYR1):c.13851A>G (p.Gly4617=) http://identifiers.org/clinvar/200925 ^@ NM_170707.3(LMNA):c.357-19T>C http://identifiers.org/clinvar/201230 ^@ NM_001035.2(RYR2):c.2507A>G (p.His836Arg) http://identifiers.org/clinvar/201175 ^@ NM_001035.2(RYR2):c.6738G>T (p.Ser2246=) http://identifiers.org/clinvar/199734 ^@ NM_000090.3(COL3A1):c.2668C>T (p.Pro890Ser) http://identifiers.org/clinvar/199843 ^@ NM_004415.3(DSP):c.5707C>A (p.Gln1903Lys) http://identifiers.org/clinvar/199900 ^@ NM_004415.3(DSP):c.6248G>A (p.Arg2083His) http://identifiers.org/clinvar/200428 ^@ NM_000238.3(KCNH2):c.2360T>A (p.Ile787Asn) http://identifiers.org/clinvar/200276 ^@ NM_000238.3(KCNH2):c.344T>G (p.Val115Gly) http://identifiers.org/clinvar/200590 ^@ NM_000238.3(KCNH2):c.303A>T (p.Lys101Asn) http://identifiers.org/clinvar/199676 ^@ NM_001613.2(ACTA2):c.809G>A (p.Gly270Glu) http://identifiers.org/clinvar/200811 ^@ NM_000218.2(KCNQ1):c.1110G>A (p.Ala370=) http://identifiers.org/clinvar/200864 ^@ NM_000218.2(KCNQ1):c.1986C>G (p.Tyr662Ter) http://identifiers.org/clinvar/200994 ^@ NM_130799.2(MEN1):c.79_88delCTGGGCCGAG (p.Leu27Argfs) http://identifiers.org/clinvar/200127 ^@ NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) http://identifiers.org/clinvar/200070 ^@ NM_000138.4(FBN1):c.5825G>T (p.Cys1942Phe) http://identifiers.org/clinvar/200015 ^@ NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) http://identifiers.org/clinvar/200182 ^@ NM_000138.4(FBN1):c.2596A>G (p.Ile866Val) http://identifiers.org/clinvar/199957 ^@ NM_000138.4(FBN1):c.722C>T (p.Thr241Met) http://identifiers.org/clinvar/201054 ^@ NM_002474.2(MYH11):c.2075C>T (p.Ala692Val) http://identifiers.org/clinvar/201108 ^@ NM_002474.2(MYH11):c.1502G>A (p.Arg501His) http://identifiers.org/clinvar/199790 ^@ NM_001943.4(DSG2):c.1808A>G (p.Gln603Arg) http://identifiers.org/clinvar/202114 ^@ NM_024334.2(TMEM43):c.1141G>A (p.Gly381Ser) http://identifiers.org/clinvar/202055 ^@ NM_001134363.2(RBM20):c.1156C>T (p.Gln386Ter) http://identifiers.org/clinvar/201998 ^@ NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) http://identifiers.org/clinvar/202172 ^@ NM_000430.3(PAFAH1B1):c.818G>A (p.Arg273Gln) http://identifiers.org/clinvar/202222 ^@ NC_000023.10:g.(?_6456837)_(8119329_?)del http://identifiers.org/clinvar/203116 ^@ NM_001256850.1(TTN):c.102434C>T (p.Thr34145Ile) http://identifiers.org/clinvar/203066 ^@ NM_001256850.1(TTN):c.97601G>A (p.Arg32534Gln) http://identifiers.org/clinvar/203016 ^@ NM_001256850.1(TTN):c.90694C>A (p.Leu30232Met) http://identifiers.org/clinvar/202966 ^@ NM_001256850.1(TTN):c.85342G>A (p.Glu28448Lys) http://identifiers.org/clinvar/202916 ^@ NM_001256850.1(TTN):c.77941C>A (p.Pro25981Thr) http://identifiers.org/clinvar/202400 ^@ NM_001256850.1(TTN):c.64327C>T (p.Arg21443Ter) http://identifiers.org/clinvar/202816 ^@ NM_001256850.1(TTN):c.63440T>C (p.Leu21147Pro) http://identifiers.org/clinvar/233987 ^@ NM_000038.5(APC):c.6877G>C (p.Gly2293Arg) http://identifiers.org/clinvar/229855 ^@ NM_005732.3(RAD50):c.39G>C (p.Arg13=) http://identifiers.org/clinvar/233836 ^@ NM_005732.3(RAD50):c.158G>C (p.Cys53Ser) http://identifiers.org/clinvar/230844 ^@ NM_005732.3(RAD50):c.1039C>T (p.Leu347Phe) http://identifiers.org/clinvar/230794 ^@ NM_005732.3(RAD50):c.3402A>G (p.Lys1134=) http://identifiers.org/clinvar/231594 ^@ NM_000535.6(PMS2):c.496C>T (p.Leu166=) http://identifiers.org/clinvar/230644 ^@ NM_002485.4(NBN):c.1763A>G (p.Asn588Ser) http://identifiers.org/clinvar/233534 ^@ NM_002485.4(NBN):c.39A>C (p.Gly13=) http://identifiers.org/clinvar/233484 ^@ NM_000077.4(CDKN2A):c.334C>G (p.Arg112Gly) http://identifiers.org/clinvar/229705 ^@ NM_000314.6(PTEN):c.209+1G>T http://identifiers.org/clinvar/231794 ^@ NM_000051.3(ATM):c.4428C>G (p.Ile1476Met) http://identifiers.org/clinvar/229755 ^@ NM_000051.3(ATM):c.5242A>C (p.Ser1748Arg) http://identifiers.org/clinvar/233887 ^@ NM_000051.3(ATM):c.6930T>C (p.Ser2310=) http://identifiers.org/clinvar/229805 ^@ NM_000051.3(ATM):c.7846A>G (p.Met2616Val) http://identifiers.org/clinvar/234237 ^@ NM_005591.3(MRE11):c.55A>G (p.Thr19Ala) http://identifiers.org/clinvar/231444 ^@ NM_005591.3(MRE11):c.18_19delACinsTG (p.Leu7Val) http://identifiers.org/clinvar/233634 ^@ NM_000075.3(CDK4):c.497G>C (p.Ser166Thr) http://identifiers.org/clinvar/233735 ^@ NM_000075.3(CDK4):c.385G>A (p.Asp129Asn) http://identifiers.org/clinvar/233584 ^@ NM_000059.3(BRCA2):c.176delC (p.Pro59Glnfs) http://identifiers.org/clinvar/229655 ^@ NM_000059.3(BRCA2):c.2949A>G (p.Pro983=) http://identifiers.org/clinvar/231344 ^@ NM_000059.3(BRCA2):c.3210A>G (p.Ala1070=) http://identifiers.org/clinvar/233384 ^@ NM_000059.3(BRCA2):c.4323G>A (p.Glu1441=) http://identifiers.org/clinvar/234187 ^@ NM_000059.3(BRCA2):c.5699C>G (p.Ser1900Ter) http://identifiers.org/clinvar/233786 ^@ NM_000059.3(BRCA2):c.6039delA (p.Val2014Tyrfs) http://identifiers.org/clinvar/231894 ^@ NM_000059.3(BRCA2):c.6568G>T (p.Val2190Leu) http://identifiers.org/clinvar/230994 ^@ NM_000059.3(BRCA2):c.7933A>G (p.Arg2645Gly) http://identifiers.org/clinvar/231244 ^@ NM_000059.3(BRCA2):c.9195_9196delTCinsAT (p.Phe3065_Gln3066delinsLeuTer) http://identifiers.org/clinvar/231394 ^@ NM_024675.3(PALB2):c.1919C>A (p.Ser640Ter) http://identifiers.org/clinvar/231044 ^@ NM_004360.4(CDH1):c.1056T>A (p.Gly352=) http://identifiers.org/clinvar/229905 ^@ NM_001042492.2(NF1):c.541C>G (p.Gln181Glu) http://identifiers.org/clinvar/233434 ^@ NM_001042492.2(NF1):c.3497-5A>G http://identifiers.org/clinvar/231644 ^@ NM_001042492.2(NF1):c.3564A>G (p.Gln1188=) http://identifiers.org/clinvar/234037 ^@ NM_002878.3(RAD51D):c.802T>A (p.Trp268Arg) http://identifiers.org/clinvar/230594 ^@ NM_002878.3(RAD51D):c.163C>T (p.Arg55Trp) http://identifiers.org/clinvar/231744 ^@ NM_007294.3(BRCA1):c.5587T>G (p.Tyr1863Asp) http://identifiers.org/clinvar/234087 ^@ NM_007294.3(BRCA1):c.655G>C (p.Asp219His) http://identifiers.org/clinvar/230894 ^@ NM_058216.2(RAD51C):c.634C>A (p.Arg212Ser) http://identifiers.org/clinvar/231694 ^@ NM_058216.2(RAD51C):c.987A>T (p.Ser329=) http://identifiers.org/clinvar/231294 ^@ NM_000546.5(TP53):c.782+2T>G http://identifiers.org/clinvar/234137 ^@ NM_007194.3(CHEK2):c.138G>A (p.Met46Ile) http://identifiers.org/clinvar/231544 ^@ NM_007194.3(CHEK2):c.24G>T (p.Glu8Asp) http://identifiers.org/clinvar/242397 ^@ NM_206933.2(USH2A):c.3368A>G (p.Tyr1123Cys) http://identifiers.org/clinvar/240083 ^@ NM_004980.4(KCND3):c.633G>T (p.Pro211=) http://identifiers.org/clinvar/240684 ^@ NM_006516.2(SLC2A1):c.145G>T (p.Val49Phe) http://identifiers.org/clinvar/237740 ^@ NM_000384.2(APOB):c.13448C>T (p.Ala4483Val) http://identifiers.org/clinvar/237840 ^@ NM_000465.3(BARD1):c.567A>C (p.Ala189=) http://identifiers.org/clinvar/241973 ^@ NM_152383.4(DIS3L2):c.2295T>C (p.Ser765=) http://identifiers.org/clinvar/239833 ^@ NM_004304.4(ALK):c.4203T>C (p.Tyr1401=) http://identifiers.org/clinvar/239130 ^@ NM_002354.2(EPCAM):c.51_56delGGCGAC (p.Ala18_Thr19del) http://identifiers.org/clinvar/240984 ^@ NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) http://identifiers.org/clinvar/239583 ^@ NM_003896.3(ST3GAL5):c.82+1G>C http://identifiers.org/clinvar/242173 ^@ NM_181426.1(CCDC39):c.2407-9T>C http://identifiers.org/clinvar/239533 ^@ NM_003242.5(TGFBR2):c.69G>T (p.Thr23=) http://identifiers.org/clinvar/240334 ^@ NM_006206.4(PDGFRA):c.2742G>C (p.Arg914=) http://identifiers.org/clinvar/239633 ^@ NM_004168.3(SDHA):c.-115-?_*280+?dup2390 http://identifiers.org/clinvar/242223 ^@ NM_198253.2(TERT):c.2106G>A (p.Pro702=) http://identifiers.org/clinvar/240234 ^@ NM_005732.3(RAD50):c.3193G>A (p.Asp1065Asn) http://identifiers.org/clinvar/239683 ^@ NM_004168.3(SDHA):c.777C>T (p.Tyr259=) http://identifiers.org/clinvar/240284 ^@ NM_006073.3(TRDN):c.17C>T (p.Ala6Val) http://identifiers.org/clinvar/237890 ^@ NM_000535.6(PMS2):c.1591G>T (p.Glu531Ter) http://identifiers.org/clinvar/262772 ^@ NM_153717.2(EVC):c.2298C>T (p.Asp766=) http://identifiers.org/clinvar/262072 ^@ NM_032446.2(MEGF10):c.2199C>T (p.Cys733=) http://identifiers.org/clinvar/257993 ^@ NM_001369.2(DNAH5):c.12279+6G>C http://identifiers.org/clinvar/258043 ^@ NM_001369.2(DNAH5):c.5272-32T>C http://identifiers.org/clinvar/263022 ^@ NM_182925.4(FLT4):c.1258+21C>T http://identifiers.org/clinvar/262172 ^@ NM_033071.3(SYNE1):c.17133+38C>T http://identifiers.org/clinvar/260183 ^@ NM_012120.2(CD2AP):c.1275-20G>A http://identifiers.org/clinvar/262422 ^@ NM_138694.3(PKHD1):c.8643-24A>G http://identifiers.org/clinvar/258343 ^@ NM_001851.4(COL9A1):c.1504-14T>A http://identifiers.org/clinvar/259332 ^@ NM_004370.5(COL12A1):c.4479G>A (p.Gln1493=) http://identifiers.org/clinvar/258143 ^@ NM_001458.4(FLNC):c.4161C>T (p.Ile1387=) http://identifiers.org/clinvar/257943 ^@ NM_001277115.1(DNAH11):c.982+8T>A http://identifiers.org/clinvar/257893 ^@ NM_001277115.1(DNAH11):c.4254+8T>C http://identifiers.org/clinvar/257843 ^@ NM_001277115.1(DNAH11):c.10449C>T (p.Ala3483=) http://identifiers.org/clinvar/261972 ^@ NM_031443.3(CCM2):c.384G>A (p.Glu128=) http://identifiers.org/clinvar/260933 ^@ NM_017802.3(DNAAF5):c.2240-12C>T http://identifiers.org/clinvar/260333 ^@ NM_014112.4(TRPS1):c.423G>T (p.Pro141=) http://identifiers.org/clinvar/259282 ^@ NM_004315.5(ASAH1):c.752-19T>C http://identifiers.org/clinvar/260383 ^@ NM_014290.2(TDRD7):c.449T>C (p.Val150Ala) http://identifiers.org/clinvar/262122 ^@ NM_032844.4(MASTL):c.2616T>C (p.Thr872=) http://identifiers.org/clinvar/257343 ^@ NM_001080449.2(DNA2):c.2430C>G (p.Phe810Leu) http://identifiers.org/clinvar/260233 ^@ NM_012330.3(KAT6B):c.1798C>T (p.His600Tyr) http://identifiers.org/clinvar/260733 ^@ NM_016341.3(PLCE1):c.810T>C (p.Cys270=) http://identifiers.org/clinvar/260483 ^@ NM_014956.4(CEP164):c.3090-16A>C http://identifiers.org/clinvar/260783 ^@ NM_016952.4(CDON):c.1671G>A (p.Lys557=) http://identifiers.org/clinvar/259632 ^@ NM_005055.4(RAPSN):c.913-15A>G http://identifiers.org/clinvar/259833 ^@ NM_005609.3(PYGM):c.1870G>A (p.Val624Ile) http://identifiers.org/clinvar/262022 ^@ NM_032273.3(TMEM126A):c.395+10A>G http://identifiers.org/clinvar/259983 ^@ NM_006446.4(SLCO1B1):c.388A>G (p.Asn130Asp) http://identifiers.org/clinvar/258193 ^@ NM_001843.3(CNTN1):c.1805-14C>A http://identifiers.org/clinvar/257143 ^@ NM_001025356.2(ANO6):c.1783-13T>C http://identifiers.org/clinvar/258243 ^@ NM_001844.4(COL2A1):c.654+15T>G http://identifiers.org/clinvar/262572 ^@ NM_145064.2(STAC3):c.258C>T (p.Asn86=) http://identifiers.org/clinvar/260133 ^@ NM_007129.3(ZIC2):c.528C>T (p.Asn176=) http://identifiers.org/clinvar/261922 ^@ NM_030621.4(DICER1):c.307+11delA http://identifiers.org/clinvar/262372 ^@ NM_138477.2(CDAN1):c.2463G>A (p.Gly821=) http://identifiers.org/clinvar/335669 ^@ NM_001029883.2(C2orf71):c.645G>A (p.Leu215=) http://identifiers.org/clinvar/335819 ^@ NM_000348.3(SRD5A2):c.89dupC (p.Ser31Leufs) http://identifiers.org/clinvar/335169 ^@ NM_004544.3(NDUFA10):c.*2297T>G http://identifiers.org/clinvar/335969 ^@ NM_005633.3(SOS1):c.*3725T>C http://identifiers.org/clinvar/335319 ^@ NM_152783.4(D2HGDH):c.1357C>T (p.Leu453Phe) http://identifiers.org/clinvar/332928 ^@ NM_133378.4(TTN):c.12428G>C (p.Arg4143Thr) http://identifiers.org/clinvar/333228 ^@ NM_005259.2(MSTN):c.*290C>T http://identifiers.org/clinvar/336069 ^@ NM_022437.2(ABCG8):c.611G>A (p.Arg204His) http://identifiers.org/clinvar/332978 ^@ NM_201548.4(CERKL):c.*1414_*1417dupATTG http://identifiers.org/clinvar/333028 ^@ NM_002500.4(NEUROD1):c.*642_*643delGT http://identifiers.org/clinvar/333328 ^@ NM_001006657.1(WDR35):c.*2748G>T http://identifiers.org/clinvar/336576 ^@ NM_001135659.2(NRXN1):c.-1011G>A http://identifiers.org/clinvar/333528 ^@ NM_001044385.2(TMEM237):c.*3855A>G http://identifiers.org/clinvar/336019 ^@ NM_005633.3(SOS1):c.2121T>C (p.Asp707=) http://identifiers.org/clinvar/336926 ^@ NM_001692.3(ATP6V1B1):c.1308G>A (p.Glu436=) http://identifiers.org/clinvar/336369 ^@ NM_139279.5(MCFD2):c.*569G>A http://identifiers.org/clinvar/334029 ^@ NM_001875.4(CPS1):c.3121C>T (p.Leu1041=) http://identifiers.org/clinvar/333978 ^@ NM_015040.3(PIKFYVE):c.*3102_*3104dupTTT http://identifiers.org/clinvar/336676 ^@ NM_002618.3(PEX13):c.*298G>C http://identifiers.org/clinvar/336776 ^@ NM_015910.5(WDPCP):c.-227C>G http://identifiers.org/clinvar/336876 ^@ NM_002056.3(GFPT1):c.1543+5A>G http://identifiers.org/clinvar/337026 ^@ NM_015120.4(ALMS1):c.8819A>G (p.Asp2940Gly) http://identifiers.org/clinvar/342516 ^@ NM_198196.2(CD96):c.-115G>A http://identifiers.org/clinvar/334769 ^@ NM_000091.4(COL4A3):c.2881+6G>T http://identifiers.org/clinvar/334819 ^@ NM_000091.4(COL4A3):c.*2180C>T http://identifiers.org/clinvar/342866 ^@ NM_053025.3(MYLK):c.5448C>T (p.Arg1816=) http://identifiers.org/clinvar/335069 ^@ NM_000541.4(SAG):c.489C>T (p.Ala163=) http://identifiers.org/clinvar/342366 ^@ NM_033084.4(FANCD2):c.2181G>A (p.Pro727=) http://identifiers.org/clinvar/335219 ^@ NM_004321.7(KIF1A):c.*2794C>T http://identifiers.org/clinvar/334969 ^@ NM_000751.2(CHRND):c.920C>T (p.Pro307Leu) http://identifiers.org/clinvar/342416 ^@ NM_000551.3(VHL):c.*635G>A http://identifiers.org/clinvar/335519 ^@ NM_002437.4(MPV17):c.*413A>C http://identifiers.org/clinvar/335619 ^@ NM_001029883.2(C2orf71):c.*874G>A http://identifiers.org/clinvar/335719 ^@ NM_004304.4(ALK):c.-5G>A http://identifiers.org/clinvar/343605 ^@ NM_001184.3(ATR):c.4382+6T>C http://identifiers.org/clinvar/342766 ^@ NM_000187.3(HGD):c.-452G>T http://identifiers.org/clinvar/343655 ^@ NM_000935.2(PLOD2):c.-95G>A http://identifiers.org/clinvar/335769 ^@ NM_000379.3(XDH):c.2851G>A (p.Gly951Arg) http://identifiers.org/clinvar/342816 ^@ NM_000388.3(CASR):c.*1093C>T http://identifiers.org/clinvar/343805 ^@ NM_174878.2(CLRN1):c.*315C>T http://identifiers.org/clinvar/343855 ^@ NM_004733.3(SLC33A1):c.*1673_*1676delAAAA http://identifiers.org/clinvar/335569 ^@ NM_001029883.2(C2orf71):c.*3057C>T http://identifiers.org/clinvar/335919 ^@ NM_000104.3(CYP1B1):c.*1895C>T http://identifiers.org/clinvar/344055 ^@ NM_001041.3(SI):c.1398+12T>C http://identifiers.org/clinvar/344105 ^@ NM_145860.1(PDCD10):c.*141C>T http://identifiers.org/clinvar/354571 ^@ NM_002397.4(MEF2C):c.*2390C>T http://identifiers.org/clinvar/357411 ^@ NM_138694.3(PKHD1):c.10724G>T (p.Gly3575Val) http://identifiers.org/clinvar/354771 ^@ NM_001242957.2(MAK):c.*1426_*1428delAAT http://identifiers.org/clinvar/351074 ^@ NM_022464.4(SIL1):c.1321G>A (p.Glu441Lys) http://identifiers.org/clinvar/355021 ^@ NM_004752.3(GCM2):c.116G>A (p.Arg39Gln) http://identifiers.org/clinvar/355272 ^@ NM_000426.3(LAMA2):c.4944C>T (p.Asn1648=) http://identifiers.org/clinvar/351174 ^@ NM_199189.2(MATR3):c.*1633T>C http://identifiers.org/clinvar/355472 ^@ NM_172105.3(EYA4):c.*2588C>T http://identifiers.org/clinvar/359200 ^@ NM_014141.5(CNTNAP2):c.*174_*175dupAA http://identifiers.org/clinvar/359350 ^@ NM_016203.3(PRKAG2):c.186+7C>T http://identifiers.org/clinvar/359450 ^@ NM_058246.3(DNAJB6):c.-43G>T http://identifiers.org/clinvar/352132 ^@ NM_005211.3(CSF1R):c.2535C>G (p.Leu845=) http://identifiers.org/clinvar/352382 ^@ NM_000337.5(SGCD):c.*3962G>A http://identifiers.org/clinvar/359850 ^@ NM_004403.2(DFNA5):c.611A>T (p.Asp204Val) http://identifiers.org/clinvar/359950 ^@ NM_005522.4(HOXA1):c.*250G>C http://identifiers.org/clinvar/352282 ^@ NM_000405.4(GM2A):c.*1362G>C http://identifiers.org/clinvar/356661 ^@ NM_005943.5(MOCS1):c.583+10T>A http://identifiers.org/clinvar/352332 ^@ NM_000337.5(SGCD):c.193-10T>A http://identifiers.org/clinvar/360100 ^@ NM_133468.4(BMPER):c.406G>A (p.Gly136Ser) http://identifiers.org/clinvar/356761 ^@ NM_000322.4(PRPH2):c.*797G>A http://identifiers.org/clinvar/352532 ^@ NM_001099287.1(NIPAL4):c.*566C>A http://identifiers.org/clinvar/352732 ^@ NM_001017995.2(SH3PXD2B):c.*4665_*4668delACTC http://identifiers.org/clinvar/352682 ^@ NM_001034850.2(RETREG1):c.*123T>G http://identifiers.org/clinvar/352782 ^@ NM_001017995.2(SH3PXD2B):c.*861C>T http://identifiers.org/clinvar/357111 ^@ NM_001024630.3(RUNX2):c.*1415G>T http://identifiers.org/clinvar/352832 ^@ NM_001017995.2(SH3PXD2B):c.-67C>T http://identifiers.org/clinvar/357261 ^@ NM_000255.3(MUT):c.1332+3A>C http://identifiers.org/clinvar/352982 ^@ NM_003052.4(SLC34A1):c.*323G>A http://identifiers.org/clinvar/353032 ^@ NM_017838.3(NHP2):c.-73C>T http://identifiers.org/clinvar/357361 ^@ NM_138694.3(PKHD1):c.*3269C>A http://identifiers.org/clinvar/357611 ^@ NM_001723.5(DST):c.1108C>T (p.Arg370Trp) http://identifiers.org/clinvar/361749 ^@ NM_004519.3(KCNQ3):c.*7512T>G http://identifiers.org/clinvar/299791 ^@ NM_032844.4(MASTL):c.985-7C>T http://identifiers.org/clinvar/306445 ^@ NM_000372.4(TYR):c.1270T>A (p.Ser424Thr) http://identifiers.org/clinvar/306645 ^@ NM_139319.2(SLC17A8):c.*715A>C http://identifiers.org/clinvar/306745 ^@ NM_002465.3(MYBPC1):c.2522T>C (p.Ile841Thr) http://identifiers.org/clinvar/306845 ^@ NM_000618.4(IGF1):c.*5079T>C http://identifiers.org/clinvar/306895 ^@ NM_000618.4(IGF1):c.*1386G>A http://identifiers.org/clinvar/300341 ^@ NM_000281.3(PCBD1):c.*404_*405delGT http://identifiers.org/clinvar/300541 ^@ NM_002778.3(PSAP):c.-29C>T http://identifiers.org/clinvar/300691 ^@ NM_016065.3(MRPS16):c.*1409_*1411delCTT http://identifiers.org/clinvar/307645 ^@ NM_012463.3(ATP6V0A2):c.*3603G>A http://identifiers.org/clinvar/307695 ^@ NM_025215.5(PUS1):c.-246G>A http://identifiers.org/clinvar/364948 ^@ NM_002316.3(LMX1B):c.*1995C>G http://identifiers.org/clinvar/308145 ^@ NM_000719.6(CACNA1C):c.3567C>T (p.Cys1189=) http://identifiers.org/clinvar/365248 ^@ NM_054012.3(ASS1):c.-146_-145dupGG http://identifiers.org/clinvar/365048 ^@ NM_003165.3(STXBP1):c.-89G>A http://identifiers.org/clinvar/365398 ^@ NM_000368.4(TSC1):c.*4233G>T http://identifiers.org/clinvar/365098 ^@ NM_000118.3(ENG):c.-63C>T http://identifiers.org/clinvar/365748 ^@ NM_000093.4(COL5A1):c.*283G>A http://identifiers.org/clinvar/365798 ^@ NM_014564.4(LHX3):c.*857C>T http://identifiers.org/clinvar/309184 ^@ NM_000217.2(KCNA1):c.*2278dupC http://identifiers.org/clinvar/365498 ^@ NM_000368.4(TSC1):c.*405A>G http://identifiers.org/clinvar/365548 ^@ NM_139025.4(ADAMTS13):c.1551G>C (p.Gly517=) http://identifiers.org/clinvar/365598 ^@ NM_014694.3(ADAMTSL2):c.1590A>G (p.Pro530=) http://identifiers.org/clinvar/366099 ^@ NM_144966.5(FREM1):c.6528C>T (p.Ser2176=) http://identifiers.org/clinvar/366149 ^@ NM_144966.5(FREM1):c.2170C>T (p.His724Tyr) http://identifiers.org/clinvar/309584 ^@ NM_000423.2(KRT2):c.*354C>T http://identifiers.org/clinvar/309684 ^@ NM_002272.3(KRT4):c.726G>A (p.Val242=) http://identifiers.org/clinvar/309934 ^@ NM_004984.2(KIF5A):c.471C>T (p.His157=) http://identifiers.org/clinvar/309984 ^@ NM_000075.3(CDK4):c.-100G>T http://identifiers.org/clinvar/310034 ^@ NM_000552.4(VWF):c.8096A>G (p.His2699Arg) http://identifiers.org/clinvar/310084 ^@ NM_000552.4(VWF):c.1596C>T (p.Gly532=) http://identifiers.org/clinvar/310134 ^@ NM_001038.5(SCNN1A):c.1559G>C (p.Gly520Ala) http://identifiers.org/clinvar/366199 ^@ NM_003070.4(SMARCA2):c.677A>C (p.Gln226Pro) http://identifiers.org/clinvar/310384 ^@ NM_173353.3(TPH2):c.609-7T>C http://identifiers.org/clinvar/366299 ^@ NM_002451.3(MTAP):c.*2638G>A http://identifiers.org/clinvar/314367 ^@ NM_001040108.1(MLH3):c.*797dupT http://identifiers.org/clinvar/312828 ^@ NM_001126106.2(SLC7A7):c.-18G>A http://identifiers.org/clinvar/322252 ^@ NM_000430.3(PAFAH1B1):c.-304C>A http://identifiers.org/clinvar/341016 ^@ NM_022081.5(HPS4):c.751A>T (p.Thr251Ser) http://identifiers.org/clinvar/322452 ^@ NM_005148.3(UNC119):c.*362C>G http://identifiers.org/clinvar/322552 ^@ NM_001045.5(SLC6A4):c.-500delC http://identifiers.org/clinvar/322602 ^@ NM_000267.3(NF1):c.*2777C>A http://identifiers.org/clinvar/322702 ^@ NM_145068.3(TRPV3):c.*2087T>G http://identifiers.org/clinvar/322652 ^@ NM_000286.2(PEX12):c.1002G>A (p.Arg334=) http://identifiers.org/clinvar/322902 ^@ NM_004937.2(CTNS):c.*1874G>A http://identifiers.org/clinvar/341866 ^@ NM_001429.3(EP300):c.*926A>C http://identifiers.org/clinvar/323252 ^@ NM_139276.2(STAT3):c.-195G>C http://identifiers.org/clinvar/313767 ^@ NM_000347.5(SPTB):c.1431G>A (p.Arg477=) http://identifiers.org/clinvar/323402 ^@ NM_000151.3(G6PC):c.*2532G>A http://identifiers.org/clinvar/342166 ^@ NM_005198.4(CHKB):c.1114-14G>A http://identifiers.org/clinvar/367817 ^@ NM_001167.3(XIAP):c.*2901T>C http://identifiers.org/clinvar/368067 ^@ NM_000033.3(ABCD1):c.*894G>A http://identifiers.org/clinvar/314267 ^@ NM_000428.2(LTBP2):c.5269T>C (p.Cys1757Arg) http://identifiers.org/clinvar/314317 ^@ NM_000428.2(LTBP2):c.450G>T (p.Arg150=) http://identifiers.org/clinvar/368417 ^@ NM_007137.3(ZNF81):c.*1368C>T http://identifiers.org/clinvar/324500 ^@ NM_000334.4(SCN4A):c.*304G>A http://identifiers.org/clinvar/324650 ^@ NM_004655.3(AXIN2):c.1162C>T (p.Arg388Cys) http://identifiers.org/clinvar/324800 ^@ NM_002734.4(PRKAR1A):c.*870G>A http://identifiers.org/clinvar/324850 ^@ NM_000891.2(KCNJ2):c.*1125G>A http://identifiers.org/clinvar/317367 ^@ NM_198525.2(KIF7):c.1296G>A (p.Leu432=) http://identifiers.org/clinvar/325050 ^@ NM_173477.4(USH1G):c.*95C>G http://identifiers.org/clinvar/317467 ^@ NM_000875.4(IGF1R):c.*54dupT http://identifiers.org/clinvar/317517 ^@ NM_000875.4(IGF1R):c.*1856C>T http://identifiers.org/clinvar/317567 ^@ NM_000875.4(IGF1R):c.*3818A>C http://identifiers.org/clinvar/325200 ^@ NM_001005731.2(ITGB4):c.4499-3delC http://identifiers.org/clinvar/317617 ^@ NM_000875.4(IGF1R):c.*5739dupT http://identifiers.org/clinvar/325450 ^@ NM_024599.5(RHBDF2):c.768G>A (p.Ser256=) http://identifiers.org/clinvar/317917 ^@ NM_001287.5(CLCN7):c.*1189G>A http://identifiers.org/clinvar/317967 ^@ NM_001287.5(CLCN7):c.120T>A (p.Ala40=) http://identifiers.org/clinvar/318017 ^@ NM_001143979.1(NDE1):c.-741dupG http://identifiers.org/clinvar/318067 ^@ NM_001143979.1(NDE1):c.832G>C (p.Val278Leu) http://identifiers.org/clinvar/318119 ^@ NM_001143979.1(NDE1):c.*290dupG http://identifiers.org/clinvar/373367 ^@ NM_018328.4(MBD5):c.3367A>G (p.Met1123Val) http://identifiers.org/clinvar/373267 ^@ NM_000393.4(COL5A2):c.1534G>A (p.Val512Ile) http://identifiers.org/clinvar/373117 ^@ NM_001165963.1(SCN1A):c.3898delA (p.Thr1300Glnfs) http://identifiers.org/clinvar/373317 ^@ NM_173653.3(SLC9A9):c.1082C>G (p.Thr361Ser) http://identifiers.org/clinvar/372557 ^@ NM_021007.2(SCN2A):c.640T>C (p.Ser214Pro) http://identifiers.org/clinvar/373817 ^@ NM_002488.4(NDUFA2):c.199delG (p.Ala67Profs) http://identifiers.org/clinvar/373417 ^@ NM_000941.2(POR):c.785A>C (p.Tyr262Ser) http://identifiers.org/clinvar/373217 ^@ NM_003172.3(SURF1):c.751+5G>A http://identifiers.org/clinvar/372967 ^@ NM_004333.4(BRAF):c.826G>C (p.Val276Leu) http://identifiers.org/clinvar/373667 ^@ NM_000314.6(PTEN):c.734A>C (p.Gln245Pro) http://identifiers.org/clinvar/373017 ^@ NM_004523.3(KIF11):c.1040dupT (p.Ser348Glufs) http://identifiers.org/clinvar/373067 ^@ NM_000138.4(FBN1):c.4759delA (p.Ile1587Phefs) http://identifiers.org/clinvar/373167 ^@ NM_015665.5(AAAS):c.500C>A (p.Ala167Glu) http://identifiers.org/clinvar/373767 ^@ NM_001127464.2(ZNF469):c.8325C>T (p.Pro2775=) http://identifiers.org/clinvar/373567 ^@ NM_000548.4(TSC2):c.3454A>C (p.Ser1152Arg) http://identifiers.org/clinvar/373617 ^@ NM_000548.4(TSC2):c.428delT (p.Phe143Serfs) http://identifiers.org/clinvar/372658 ^@ NM_000540.2(RYR1):c.8400+2T>A http://identifiers.org/clinvar/372607 ^@ NM_002055.4(GFAP):c.197G>C (p.Arg66Pro) http://identifiers.org/clinvar/372505 ^@ NM_177550.4(SLC13A5):c.511delG (p.Glu171Serfs) http://identifiers.org/clinvar/373517 ^@ NM_015338.5(ASXL1):c.3894_3897dupAGGC (p.Gln1300Argfs) http://identifiers.org/clinvar/372452 ^@ NM_000444.5(PHEX):c.500G>A (p.Trp167Ter) http://identifiers.org/clinvar/373717 ^@ NM_004992.3(MECP2):c.815delC (p.Pro272Argfs) http://identifiers.org/clinvar/373467 ^@ NM_000489.4(ATRX):c.1608G>T (p.Met536Ile) http://identifiers.org/clinvar/373867 ^@ NG_005905.2:g.(92714_93868)_(172307_?)del http://identifiers.org/clinvar/374070 ^@ NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) http://identifiers.org/clinvar/374020 ^@ NM_000550.2(TYRP1):c.1133A>G (p.Asn378Ser) http://identifiers.org/clinvar/374120 ^@ NM_024757.4(EHMT1):c.1647+2T>C http://identifiers.org/clinvar/374170 ^@ NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) http://identifiers.org/clinvar/374224 ^@ NM_001127231.2(AUTS2):c.1605C>G (p.His535Gln) http://identifiers.org/clinvar/374344 ^@ NM_000547.5(TPO):c.1994G>A (p.Arg665Gln) http://identifiers.org/clinvar/374274 ^@ NM_000264.3(PTCH1):c.114delG (p.Leu39Cysfs) http://identifiers.org/clinvar/374410 ^@ NC_000023.10:g.135622314_136191699dup569386 http://identifiers.org/clinvar/381373 ^@ NM_005633.3(SOS1):c.1269C>T (p.Asn423=) http://identifiers.org/clinvar/377731 ^@ NM_000393.4(COL5A2):c.799-6A>G http://identifiers.org/clinvar/389596 ^@ NM_000551.3(VHL):c.340+14G>T http://identifiers.org/clinvar/377931 ^@ NM_015141.3(GPD1L):c.445C>T (p.Leu149=) http://identifiers.org/clinvar/379931 ^@ NM_000388.3(CASR):c.2405A>G (p.Asn802Ser) http://identifiers.org/clinvar/379830 ^@ NM_003722.4(TP63):c.547C>T (p.Gln183Ter) http://identifiers.org/clinvar/379280 ^@ NM_000249.3(MLH1):c.342T>C (p.Thr114=) http://identifiers.org/clinvar/384918 ^@ NM_000249.3(MLH1):c.885-17T>C http://identifiers.org/clinvar/388507 ^@ NM_000249.3(MLH1):c.1365T>A (p.Thr455=) http://identifiers.org/clinvar/385618 ^@ NM_032806.5(POMGNT2):c.15G>A (p.Ala5=) http://identifiers.org/clinvar/380081 ^@ NM_005051.2(QARS):c.877-17T>C http://identifiers.org/clinvar/378980 ^@ NM_000038.5(APC):c.5376T>C (p.Asn1792=) http://identifiers.org/clinvar/383527 ^@ NM_006005.3(WFS1):c.2310C>T (p.Phe770=) http://identifiers.org/clinvar/383677 ^@ NM_005506.3(SCARB2):c.291A>G (p.Lys97=) http://identifiers.org/clinvar/387507 ^@ NM_022912.2(REEP1):c.32+14T>A http://identifiers.org/clinvar/386518 ^@ NM_018475.4(TMEM165):c.27C>G (p.Gly9=) http://identifiers.org/clinvar/383778 ^@ NM_007255.2(B4GALT7):c.219T>C (p.Arg73=) http://identifiers.org/clinvar/382074 ^@ NM_020166.4(MCCC1):c.267A>C (p.Val89=) http://identifiers.org/clinvar/390096 ^@ NM_001999.3(FBN2):c.6G>C (p.Gly2=) http://identifiers.org/clinvar/388657 ^@ NM_178862.2(STT3B):c.976+14A>G http://identifiers.org/clinvar/383466 ^@ NM_006846.3(SPINK5):c.2667-16T>G http://identifiers.org/clinvar/389696 ^@ NM_001098511.2(KIF2A):c.1119+17T>C http://identifiers.org/clinvar/385018 ^@ NM_001085411.2(NADK2):c.-296T>C http://identifiers.org/clinvar/377831 ^@ NM_000082.3(ERCC8):c.400-1G>A http://identifiers.org/clinvar/391046 ^@ NM_000426.3(LAMA2):c.8637G>C (p.Leu2879=) http://identifiers.org/clinvar/382475 ^@ NM_020381.3(PDSS2):c.915C>T (p.Thr305=) http://identifiers.org/clinvar/385568 ^@ NM_004722.3(AP4M1):c.878C>T (p.Pro293Leu) http://identifiers.org/clinvar/382425 ^@ NM_183050.3(BCKDHB):c.1014A>G (p.Ala338=) http://identifiers.org/clinvar/379630 ^@ NM_153033.4(KCTD7):c.*8C>T http://identifiers.org/clinvar/384128 ^@ NM_004722.3(AP4M1):c.-10C>T http://identifiers.org/clinvar/383828 ^@ NM_000445.4(PLEC):c.11369C>T (p.Ser3790Leu) http://identifiers.org/clinvar/379230 ^@ NM_003060.3(SLC22A5):c.529A>G (p.Met177Val) http://identifiers.org/clinvar/379881 ^@ NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) http://identifiers.org/clinvar/385818 ^@ NM_006904.6(PRKDC):c.3212A>G (p.Asn1071Ser) http://identifiers.org/clinvar/381573 ^@ NM_002485.4(NBN):c.995-12T>C http://identifiers.org/clinvar/390146 ^@ NM_080680.2(COL11A2):c.4689C>T (p.Thr1563=) http://identifiers.org/clinvar/379680 ^@ NM_020745.3(AARS2):c.1756G>A (p.Val586Met) http://identifiers.org/clinvar/388057 ^@ NM_003165.3(STXBP1):c.1360-2A>G http://identifiers.org/clinvar/388307 ^@ NM_021830.4(TWNK):c.116G>A (p.Arg39His) http://identifiers.org/clinvar/380532 ^@ NM_016035.4(COQ4):c.357G>T (p.Pro119=) http://identifiers.org/clinvar/390596 ^@ NM_002291.2(LAMB1):c.1977A>G (p.Pro659=) http://identifiers.org/clinvar/388007 ^@ NM_020822.2(KCNT1):c.3503-18C>T http://identifiers.org/clinvar/133010 ^@ NM_000540.2(RYR1):c.1123-11C>T http://identifiers.org/clinvar/133060 ^@ NM_000540.2(RYR1):c.14209C>T (p.Arg4737Trp) http://identifiers.org/clinvar/133110 ^@ NM_000540.2(RYR1):c.1925+86T>C http://identifiers.org/clinvar/133160 ^@ NM_000540.2(RYR1):c.652G>A (p.Val218Ile) http://identifiers.org/clinvar/133210 ^@ NM_000540.2(RYR1):c.7648C>G (p.Leu2550Val) http://identifiers.org/clinvar/133703 ^@ NM_000057.3(BLM):c.98C>T (p.Ser33Leu) http://identifiers.org/clinvar/135190 ^@ NM_020975.4(RET):c.1465G>A (p.Asp489Asn) http://identifiers.org/clinvar/135240 ^@ NM_014159.6(SETD2):c.4262T>C (p.Leu1421Pro) http://identifiers.org/clinvar/135291 ^@ NM_001127208.2(TET2):c.6004A>G (p.Ile2002Val) http://identifiers.org/clinvar/135341 ^@ NM_006290.3(TNFAIP3):c.1811C>G (p.Thr604Arg) http://identifiers.org/clinvar/135392 ^@ NM_000369.2(TSHR):c.154C>A (p.Pro52Thr) http://identifiers.org/clinvar/135442 ^@ NM_000553.4(WRN):c.4191G>A (p.Glu1397=) http://identifiers.org/clinvar/135492 ^@ NM_004628.4(XPC):c.478G>T (p.Val160Leu) http://identifiers.org/clinvar/135542 ^@ NM_000135.2(FANCA):c.80-13C>T http://identifiers.org/clinvar/135606 ^@ NM_002136.3(HNRNPA1):c.898C>T (p.Arg300Ter) http://identifiers.org/clinvar/135676 ^@ NM_001042498.2(SLC35A2):c.638C>T (p.Ser213Phe) http://identifiers.org/clinvar/135728 ^@ NM_000038.5(APC):c.8524T>G (p.Ser2842Ala) http://identifiers.org/clinvar/135780 ^@ NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) http://identifiers.org/clinvar/135837 ^@ NM_000179.2(MSH6):c.2990A>G (p.Lys997Arg) http://identifiers.org/clinvar/135887 ^@ NM_000264.3(PTCH1):c.2929T>C (p.Tyr977His) http://identifiers.org/clinvar/135937 ^@ NM_000535.6(PMS2):c.1420G>T (p.Ala474Ser) http://identifiers.org/clinvar/135989 ^@ NM_001128425.1(MUTYH):c.700G>A (p.Val234Met) http://identifiers.org/clinvar/136039 ^@ NM_002485.4(NBN):c.1890A>C (p.Ser630=) http://identifiers.org/clinvar/136090 ^@ NM_007294.3(BRCA1):c.593+15A>G http://identifiers.org/clinvar/136140 ^@ NM_032043.2(BRIP1):c.1165G>A (p.Val389Ile) http://identifiers.org/clinvar/136200 ^@ NM_130838.1(UBE3A):c.302-2A>T http://identifiers.org/clinvar/136251 ^@ NM_014049.4(ACAD9):c.554+20G>A http://identifiers.org/clinvar/136302 ^@ NM_020247.4(COQ8A):c.1053C>T (p.Gly351=) http://identifiers.org/clinvar/136353 ^@ NM_000032.4(ALAS2):c.1092G>A (p.Leu364=) http://identifiers.org/clinvar/184003 ^@ NM_007294.3(BRCA1):c.4914A>G (p.Glu1638=) http://identifiers.org/clinvar/183852 ^@ NM_007294.3(BRCA1):c.3394A>G (p.Asn1132Asp) http://identifiers.org/clinvar/186042 ^@ NM_007294.3(BRCA1):c.652T>C (p.Leu218=) http://identifiers.org/clinvar/183702 ^@ NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) http://identifiers.org/clinvar/183752 ^@ NM_000546.5(TP53):c.856G>A (p.Glu286Lys) http://identifiers.org/clinvar/184403 ^@ NM_000546.5(TP53):c.267C>T (p.Pro89=) http://identifiers.org/clinvar/183952 ^@ NM_000546.5(TP53):c.30C>T (p.Val10=) http://identifiers.org/clinvar/184203 ^@ NM_000455.4(STK11):c.636C>T (p.Thr212=) http://identifiers.org/clinvar/183802 ^@ NM_000455.4(STK11):c.910C>T (p.Arg304Trp) http://identifiers.org/clinvar/183902 ^@ NM_007194.3(CHEK2):c.1499C>T (p.Ser500Phe) http://identifiers.org/clinvar/185842 ^@ NM_007194.3(CHEK2):c.655delG (p.Glu219Asnfs) http://identifiers.org/clinvar/184153 ^@ NM_007194.3(CHEK2):c.6T>C (p.Ser2=) http://identifiers.org/clinvar/187787 ^@ NM_030813.5(CLPB):c.803C>T (p.Thr268Met) http://identifiers.org/clinvar/187866 ^@ NM_005957.4(MTHFR):c.136C>T (p.Arg46Trp) http://identifiers.org/clinvar/187916 ^@ NM_004409.4(DMPK):c.*224_*226[1236] http://identifiers.org/clinvar/242604 ^@ NC_000018.10:g.(?_79973783)_(79973853_79977598)del http://identifiers.org/clinvar/229253 ^@ NM_000441.1(SLC26A4):c.1616T>C (p.Ile539Thr) http://identifiers.org/clinvar/226581 ^@ NM_001277115.1(DNAH11):c.13495G>A (p.Glu4499Lys) http://identifiers.org/clinvar/227232 ^@ NM_022124.5(CDH23):c.6138C>T (p.Ile2046=) http://identifiers.org/clinvar/229303 ^@ NM_005422.2(TECTA):c.4802A>G (p.Asn1601Ser) http://identifiers.org/clinvar/226731 ^@ NM_002458.2(MUC5B):c.1440G>A (p.Ala480=) http://identifiers.org/clinvar/229603 ^@ NM_153676.3(USH1C):c.2418C>A (p.Asn806Lys) http://identifiers.org/clinvar/229103 ^@ NM_001277269.1(OTOG):c.7416T>A (p.Asp2472Glu) http://identifiers.org/clinvar/226981 ^@ NM_012226.4(P2RX2):c.1116T>A (p.Pro372=) http://identifiers.org/clinvar/226931 ^@ NM_173591.3(OTOGL):c.1963C>T (p.Pro655Ser) http://identifiers.org/clinvar/228903 ^@ NM_000257.3(MYH7):c.2504A>T (p.Lys835Met) http://identifiers.org/clinvar/228603 ^@ NM_018139.2(DNAAF2):c.1586A>C (p.Gln529Pro) http://identifiers.org/clinvar/227082 ^@ NM_153700.2(STRC):c.3360T>C (p.Cys1120=) http://identifiers.org/clinvar/229203 ^@ NM_001013838.1(CARMIL2):c.2672A>C (p.Gln891Pro) http://identifiers.org/clinvar/226681 ^@ NM_001130089.1(KARS):c.1758C>T (p.Leu586=) http://identifiers.org/clinvar/226781 ^@ NM_016239.3(MYO15A):c.2462A>C (p.Gln821Pro) http://identifiers.org/clinvar/228953 ^@ NM_016239.3(MYO15A):c.4424T>C (p.Ile1475Thr) http://identifiers.org/clinvar/228753 ^@ NM_020433.4(JPH2):c.376G>A (p.Gly126Arg) http://identifiers.org/clinvar/229353 ^@ NM_001039141.2(TRIOBP):c.3948G>A (p.Arg1316=) http://identifiers.org/clinvar/226631 ^@ NM_000501.3(ELN):c.1828G>A (p.Gly610Ser) http://identifiers.org/clinvar/227132 ^@ NM_144991.2(TSPEAR):c.170G>A (p.Arg57Gln) http://identifiers.org/clinvar/227182 ^@ NM_001692.3(ATP6V1B1):c.423G>A (p.Ala141=) http://identifiers.org/clinvar/228053 ^@ NM_144991.2(TSPEAR):c.44C>T (p.Ala15Val) http://identifiers.org/clinvar/229003 ^@ NM_000260.3(MYO7A):c.2506C>T (p.Arg836Cys) http://identifiers.org/clinvar/234297 ^@ NM_004895.4(NLRP3):c.584C>T (p.Thr195Met) http://identifiers.org/clinvar/234621 ^@ NM_000179.2(MSH6):c.599C>G (p.Ser200Ter) http://identifiers.org/clinvar/234771 ^@ NM_000314.6(PTEN):c.-790G>A http://identifiers.org/clinvar/234721 ^@ NM_001065.3(TNFRSF1A):c.1234C>G (p.Pro412Ala) http://identifiers.org/clinvar/234349 ^@ NM_000243.2(MEFV):c.307G>C (p.Asp103His) http://identifiers.org/clinvar/234571 ^@ NM_004360.4(CDH1):c.1057G>A (p.Glu353Lys) http://identifiers.org/clinvar/234520 ^@ NM_004655.3(AXIN2):c.1637G>T (p.Gly546Val) http://identifiers.org/clinvar/234419 ^@ NM_000455.4(STK11):c.1150C>T (p.Arg384Trp) http://identifiers.org/clinvar/234671 ^@ NM_000455.4(STK11):c.1118C>T (p.Pro373Leu) http://identifiers.org/clinvar/233937 ^@ NM_007194.3(CHEK2):c.888T>G (p.Asp296Glu) http://identifiers.org/clinvar/234469 ^@ NM_000116.4(TAZ):c.572G>A (p.Arg191His) http://identifiers.org/clinvar/230694 ^@ NM_003000.2(SDHB):c.221A>C (p.Asp74Ala) http://identifiers.org/clinvar/233334 ^@ NM_001128425.1(MUTYH):c.568G>T (p.Ala190Ser) http://identifiers.org/clinvar/230744 ^@ NM_000465.3(BARD1):c.1960C>G (p.Pro654Ala) http://identifiers.org/clinvar/231844 ^@ NM_000465.3(BARD1):c.954T>C (p.Asn318=) http://identifiers.org/clinvar/231194 ^@ NM_000251.2(MSH2):c.-68-195C>G http://identifiers.org/clinvar/231094 ^@ NM_000251.2(MSH2):c.681A>C (p.Arg227Ser) http://identifiers.org/clinvar/231494 ^@ NM_000179.2(MSH6):c.761C>T (p.Ser254Phe) http://identifiers.org/clinvar/231144 ^@ NM_000179.2(MSH6):c.3468G>A (p.Met1156Ile) http://identifiers.org/clinvar/233684 ^@ NM_000038.5(APC):c.889A>G (p.Thr297Ala) http://identifiers.org/clinvar/230944 ^@ NM_000038.5(APC):c.1626+2T>G http://identifiers.org/clinvar/264436 ^@ NM_002474.2(MYH11):c.4433C>G (p.Ala1478Gly) http://identifiers.org/clinvar/263969 ^@ NM_002474.2(MYH11):c.1220T>C (p.Val407Ala) http://identifiers.org/clinvar/264386 ^@ NM_000169.2(GLA):c.213G>A (p.Glu71=) http://identifiers.org/clinvar/264286 ^@ NM_001456.3(FLNA):c.5883C>T (p.Ala1961=) http://identifiers.org/clinvar/264536 ^@ NM_001456.3(FLNA):c.1686G>A (p.Gly562=) http://identifiers.org/clinvar/264906 ^@ NM_000059.3(BRCA2):c.8332-1591T>G http://identifiers.org/clinvar/264956 ^@ NM_000059.3(BRCA2):c.8754+791C>T http://identifiers.org/clinvar/265061 ^@ NM_024120.4(NDUFAF5):c.327G>C (p.Lys109Asn) http://identifiers.org/clinvar/266077 ^@ NM_033402.4(LRRCC1):c.105-1G>C http://identifiers.org/clinvar/266127 ^@ NM_001273.3(CHD4):c.3518G>T (p.Arg1173Leu) http://identifiers.org/clinvar/266827 ^@ NM_000059.3(BRCA2):c.470dupA (p.Ser158Valfs) http://identifiers.org/clinvar/266627 ^@ NM_000059.3(BRCA2):c.1317delT (p.Thr441Leufs) http://identifiers.org/clinvar/266677 ^@ NM_000059.3(BRCA2):c.2111delC (p.Pro704Glnfs) http://identifiers.org/clinvar/266727 ^@ NM_000059.3(BRCA2):c.2945delT (p.Ile982Asnfs) http://identifiers.org/clinvar/266777 ^@ NM_000059.3(BRCA2):c.3861_3864delTAAT (p.Asn1287Lysfs) http://identifiers.org/clinvar/266877 ^@ NM_000059.3(BRCA2):c.5459_5460dupGC (p.Lys1821Alafs) http://identifiers.org/clinvar/266927 ^@ NM_000059.3(BRCA2):c.6145delG (p.Val2049Trpfs) http://identifiers.org/clinvar/266977 ^@ NM_000059.3(BRCA2):c.6976delT (p.Ser2326Leufs) http://identifiers.org/clinvar/267027 ^@ NM_000059.3(BRCA2):c.7638_7647delTAAACATTGC (p.Lys2547Terfs) http://identifiers.org/clinvar/267077 ^@ NM_000059.3(BRCA2):c.8374_8384delCTTGGATTCTTinsA (p.Leu2792Ilefs) http://identifiers.org/clinvar/266527 ^@ NM_007294.3(BRCA1):c.5155dupG (p.Val1719Glyfs) http://identifiers.org/clinvar/266477 ^@ NM_007294.3(BRCA1):c.4453_4474del22 (p.Thr1485Glufs) http://identifiers.org/clinvar/266427 ^@ NM_007294.3(BRCA1):c.3995_4001delGAGTTGG (p.Gly1332Valfs) http://identifiers.org/clinvar/266377 ^@ NM_007294.3(BRCA1):c.3489_3499delTAGTTTTGCTG (p.Ser1164Lysfs) http://identifiers.org/clinvar/266327 ^@ NM_007294.3(BRCA1):c.3006_3009delCTTT (p.Asn1002Lysfs) http://identifiers.org/clinvar/266277 ^@ NM_007294.3(BRCA1):c.2538_2540delAATinsG (p.Met847Glyfs) http://identifiers.org/clinvar/266227 ^@ NM_007294.3(BRCA1):c.2155_2221dup67 (p.Ser741Terfs) http://identifiers.org/clinvar/266177 ^@ NM_007294.3(BRCA1):c.1637_1685del49insGAAAG (p.Met546Argfs) http://identifiers.org/clinvar/266577 ^@ NM_007294.3(BRCA1):c.778_779dupAA (p.Tyr261Serfs) http://identifiers.org/clinvar/290906 ^@ NM_000466.2(PEX1):c.1797A>G (p.Gly599=) http://identifiers.org/clinvar/290956 ^@ NM_020451.2(SELENON):c.7C>A (p.Arg3=) http://identifiers.org/clinvar/291006 ^@ NM_080680.2(COL11A2):c.5106G>A (p.Thr1702=) http://identifiers.org/clinvar/291056 ^@ NM_001130987.1(DYSF):c.2892C>T (p.His964=) http://identifiers.org/clinvar/291106 ^@ NM_001849.3(COL6A2):c.2454C>T (p.Cys818=) http://identifiers.org/clinvar/291156 ^@ NM_153818.1(PEX10):c.701G>A (p.Arg234His) http://identifiers.org/clinvar/291207 ^@ NM_006790.2(MYOT):c.252G>A (p.Arg84=) http://identifiers.org/clinvar/291257 ^@ NM_000027.3(AGA):c.319C>T (p.Arg107Ter) http://identifiers.org/clinvar/291522 ^@ NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) http://identifiers.org/clinvar/291422 ^@ NM_001918.3(DBT):c.*3455C>T http://identifiers.org/clinvar/291472 ^@ NM_015074.3(KIF1B):c.721-15A>G http://identifiers.org/clinvar/291685 ^@ NM_004565.2(PEX14):c.*515C>T http://identifiers.org/clinvar/291735 ^@ NM_007375.3(TARDBP):c.238+9C>T http://identifiers.org/clinvar/291572 ^@ NM_015074.3(KIF1B):c.3516A>G (p.Arg1172=) http://identifiers.org/clinvar/291635 ^@ NM_015074.3(KIF1B):c.*2895G>A http://identifiers.org/clinvar/292674 ^@ NM_152263.3(TPM3):c.*1791G>A http://identifiers.org/clinvar/292524 ^@ NM_019032.5(ADAMTSL4):c.926G>A (p.Arg309Gln) http://identifiers.org/clinvar/292574 ^@ NM_019032.5(ADAMTSL4):c.*407C>T http://identifiers.org/clinvar/292924 ^@ NM_003126.2(SPTA1):c.*134T>G http://identifiers.org/clinvar/292724 ^@ NM_001111.4(ADAR):c.*1397C>T http://identifiers.org/clinvar/293074 ^@ NM_002241.4(KCNJ10):c.*3170G>A http://identifiers.org/clinvar/293124 ^@ NM_000702.3(ATP1A2):c.111G>A (p.Val37=) http://identifiers.org/clinvar/293174 ^@ NM_000702.3(ATP1A2):c.*1482delC http://identifiers.org/clinvar/292874 ^@ NM_001012331.1(NTRK1):c.288-8C>T http://identifiers.org/clinvar/292424 ^@ NM_213653.3(HFE2):c.409G>A (p.Gly137Ser) http://identifiers.org/clinvar/292374 ^@ NM_014874.3(MFN2):c.1269G>A (p.Thr423=) http://identifiers.org/clinvar/292974 ^@ NM_003126.2(SPTA1):c.5358G>A (p.Gly1786=) http://identifiers.org/clinvar/292474 ^@ NM_005850.4(SF3B4):c.1110G>A (p.Pro370=) http://identifiers.org/clinvar/293374 ^@ NM_006182.2(DDR2):c.716T>C (p.Leu239Pro) http://identifiers.org/clinvar/293424 ^@ NM_004431.4(EPHA2):c.1720G>A (p.Val574Ile) http://identifiers.org/clinvar/292624 ^@ NM_152263.3(TPM3):c.*5926T>C http://identifiers.org/clinvar/293474 ^@ NM_005149.2(TBX19):c.603+15G>T http://identifiers.org/clinvar/292774 ^@ NM_001111.4(ADAR):c.1846G>A (p.Val616Ile) http://identifiers.org/clinvar/293724 ^@ NM_000261.1(MYOC):c.39T>G (p.Pro13=) http://identifiers.org/clinvar/292824 ^@ NM_005572.3(LMNA):c.-225C>A http://identifiers.org/clinvar/293574 ^@ NM_000130.4(F5):c.6360G>A (p.Lys2120=) http://identifiers.org/clinvar/293024 ^@ NM_003126.2(SPTA1):c.1982G>A (p.Arg661His) http://identifiers.org/clinvar/294074 ^@ NM_000433.3(NCF2):c.1498A>G (p.Lys500Glu) http://identifiers.org/clinvar/293224 ^@ NM_002857.3(PEX19):c.*169C>T http://identifiers.org/clinvar/294124 ^@ NM_031935.2(HMCN1):c.2739G>C (p.Leu913=) http://identifiers.org/clinvar/293274 ^@ NM_004550.4(NDUFS2):c.441C>T (p.Asn147=) http://identifiers.org/clinvar/294224 ^@ NM_031935.2(HMCN1):c.10989+5A>G http://identifiers.org/clinvar/293324 ^@ NM_003001.3(SDHC):c.*251C>T http://identifiers.org/clinvar/293524 ^@ NM_006996.2(SLC19A2):c.807+6C>G http://identifiers.org/clinvar/293624 ^@ NM_000130.4(F5):c.1785G>A (p.Glu595=) http://identifiers.org/clinvar/293674 ^@ NM_152281.2(GORAB):c.*884C>A http://identifiers.org/clinvar/335869 ^@ NM_014946.3(SPAST):c.*1829C>T http://identifiers.org/clinvar/344505 ^@ NM_015560.2(OPA1):c.*1919T>A http://identifiers.org/clinvar/344605 ^@ NM_000461.4(THRB):c.*1802G>A http://identifiers.org/clinvar/344705 ^@ NM_003242.5(TGFBR2):c.*1859G>T http://identifiers.org/clinvar/343905 ^@ NM_000060.4(BTD):c.108C>T (p.Tyr36=) http://identifiers.org/clinvar/344805 ^@ NM_006371.4(CRTAP):c.271G>C (p.Ala91Pro) http://identifiers.org/clinvar/336726 ^@ NM_032180.2(FAM161A):c.*311A>C http://identifiers.org/clinvar/336426 ^@ NM_000251.2(MSH2):c.335C>G (p.Ser112Cys) http://identifiers.org/clinvar/336476 ^@ NM_000145.3(FSHR):c.*246T>A http://identifiers.org/clinvar/336526 ^@ NM_001135659.2(NRXN1):c.*1054_*1058delTTCTT http://identifiers.org/clinvar/336626 ^@ NM_001039348.2(EFEMP1):c.732A>G (p.Gln244=) http://identifiers.org/clinvar/344405 ^@ NM_003722.4(TP63):c.*854A>G http://identifiers.org/clinvar/344455 ^@ NM_006580.3(CLDN16):c.*249G>A http://identifiers.org/clinvar/336826 ^@ NM_002056.3(GFPT1):c.*2916A>G http://identifiers.org/clinvar/344555 ^@ NM_000461.4(THRB):c.*4541dupA http://identifiers.org/clinvar/337076 ^@ NM_004082.4(DCTN1):c.3197-13A>G http://identifiers.org/clinvar/344655 ^@ NM_003242.5(TGFBR2):c.-18C>A http://identifiers.org/clinvar/337126 ^@ NM_013247.4(HTRA2):c.-86G>C http://identifiers.org/clinvar/336976 ^@ NM_003494.3(DYSF):c.5526-12A>G http://identifiers.org/clinvar/346494 ^@ NM_000248.3(MITF):c.184A>G (p.Met62Val) http://identifiers.org/clinvar/342266 ^@ NM_033084.4(FANCD2):c.1400C>T (p.Thr467Met) http://identifiers.org/clinvar/342316 ^@ NM_016247.3(IMPG2):c.*568C>A http://identifiers.org/clinvar/346794 ^@ NM_000158.3(GBE1):c.647A>G (p.Tyr216Cys) http://identifiers.org/clinvar/342566 ^@ NM_198196.2(CD96):c.*869G>C http://identifiers.org/clinvar/342666 ^@ NM_020754.3(ARHGAP31):c.3179G>A (p.Gly1060Asp) http://identifiers.org/clinvar/347144 ^@ NM_000204.4(CFI):c.*7G>T http://identifiers.org/clinvar/342716 ^@ NM_020754.3(ARHGAP31):c.*2281C>G http://identifiers.org/clinvar/342616 ^@ NM_020754.3(ARHGAP31):c.-369G>A http://identifiers.org/clinvar/347244 ^@ NM_001963.5(EGF):c.2115A>G (p.Pro705=) http://identifiers.org/clinvar/347294 ^@ NM_153427.2(PITX2):c.*340A>G http://identifiers.org/clinvar/347494 ^@ NM_152618.2(BBS12):c.-124G>A http://identifiers.org/clinvar/347594 ^@ NM_172250.2(MMAA):c.-69G>T http://identifiers.org/clinvar/347694 ^@ NM_000901.4(NR3C2):c.*1452C>T http://identifiers.org/clinvar/346344 ^@ NM_001457.3(FLNB):c.4590T>C (p.Tyr1530=) http://identifiers.org/clinvar/346394 ^@ NM_001457.3(FLNB):c.*1450G>T http://identifiers.org/clinvar/346444 ^@ NM_198859.3(PRICKLE2):c.*2269T>C http://identifiers.org/clinvar/346644 ^@ NM_032682.5(FOXP1):c.1239C>T (p.Pro413=) http://identifiers.org/clinvar/346694 ^@ NM_002942.4(ROBO2):c.1972G>A (p.Val658Ile) http://identifiers.org/clinvar/343555 ^@ NM_004628.4(XPC):c.*428G>A http://identifiers.org/clinvar/343755 ^@ NM_000096.3(CP):c.2557G>A (p.Glu853Lys) http://identifiers.org/clinvar/346844 ^@ NM_000306.3(POU1F1):c.370A>G (p.Met124Val) http://identifiers.org/clinvar/348383 ^@ NM_000128.3(F11):c.*296G>C http://identifiers.org/clinvar/353921 ^@ NM_001104631.1(PDE4D):c.*4622G>T http://identifiers.org/clinvar/354021 ^@ NM_000082.3(ERCC8):c.173+9A>G http://identifiers.org/clinvar/362149 ^@ NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) http://identifiers.org/clinvar/362299 ^@ NM_006765.3(TUSC3):c.-173_-172delCT http://identifiers.org/clinvar/354071 ^@ NM_017755.5(NSUN2):c.-216delT http://identifiers.org/clinvar/362399 ^@ NM_000237.2(LPL):c.-281T>G http://identifiers.org/clinvar/362499 ^@ NM_005144.4(HR):c.2217C>T (p.Ser739=) http://identifiers.org/clinvar/354321 ^@ NM_000046.3(ARSB):c.-276T>C http://identifiers.org/clinvar/354371 ^@ NM_002454.2(MTRR):c.*626C>G http://identifiers.org/clinvar/354471 ^@ NM_004385.4(VCAN):c.*160A>G http://identifiers.org/clinvar/354671 ^@ NM_005068.2(SIM1):c.*183A>T http://identifiers.org/clinvar/354821 ^@ NM_007214.4(SEC63):c.*3480delT http://identifiers.org/clinvar/359300 ^@ NM_000238.3(KCNH2):c.*15G>A http://identifiers.org/clinvar/359400 ^@ NM_022458.3(LMBR1):c.*1444T>G http://identifiers.org/clinvar/354871 ^@ NM_007214.4(SEC63):c.*1398A>C http://identifiers.org/clinvar/354971 ^@ NM_014028.3(OSTM1):c.*953C>T http://identifiers.org/clinvar/354921 ^@ NM_007214.4(SEC63):c.-77C>T http://identifiers.org/clinvar/359600 ^@ NM_001277115.1(DNAH11):c.845T>C (p.Met282Thr) http://identifiers.org/clinvar/359650 ^@ NM_001277115.1(DNAH11):c.6897G>C (p.Glu2299Asp) http://identifiers.org/clinvar/355122 ^@ NM_001010892.2(RSPH4A):c.1559G>A (p.Arg520Gln) http://identifiers.org/clinvar/355172 ^@ NM_000165.4(GJA1):c.*529C>G http://identifiers.org/clinvar/359800 ^@ NM_001031710.2(KLHL7):c.1378A>G (p.Thr460Ala) http://identifiers.org/clinvar/355522 ^@ NM_000288.3(PEX7):c.-56C>T http://identifiers.org/clinvar/359900 ^@ NM_018947.5(CYCS):c.*2799T>G http://identifiers.org/clinvar/360000 ^@ NM_002047.3(GARS):c.-36C>A http://identifiers.org/clinvar/360150 ^@ NM_133468.4(BMPER):c.*2067A>T http://identifiers.org/clinvar/360250 ^@ NM_000168.5(GLI3):c.827-14dupT http://identifiers.org/clinvar/360350 ^@ NM_014855.2(AP5Z1):c.*205G>A http://identifiers.org/clinvar/360400 ^@ NM_014855.2(AP5Z1):c.*2185C>T http://identifiers.org/clinvar/360500 ^@ NM_004577.3(PSPH):c.*316C>T http://identifiers.org/clinvar/364998 ^@ NM_002316.3(LMX1B):c.*4373A>G http://identifiers.org/clinvar/356511 ^@ NM_182548.3(LHFPL5):c.*461_*466delTACATA http://identifiers.org/clinvar/356611 ^@ NM_005943.5(MOCS1):c.*1881T>G http://identifiers.org/clinvar/365298 ^@ NM_007171.3(POMT1):c.*635T>G http://identifiers.org/clinvar/361189 ^@ NM_178857.5(RP1L1):c.*356C>G http://identifiers.org/clinvar/356561 ^@ NM_001145717.1(PNPLA1):c.691G>A (p.Ala231Thr) http://identifiers.org/clinvar/361339 ^@ NM_178857.5(RP1L1):c.2620G>A (p.Gly874Ser) http://identifiers.org/clinvar/356811 ^@ NM_000287.3(PEX6):c.-79C>T http://identifiers.org/clinvar/361389 ^@ NM_178857.5(RP1L1):c.954C>T (p.Asp318=) http://identifiers.org/clinvar/365698 ^@ NM_000093.4(COL5A1):c.-357G>T http://identifiers.org/clinvar/356911 ^@ NM_006502.2(POLH):c.1637A>G (p.Asn546Ser) http://identifiers.org/clinvar/361549 ^@ NM_014112.4(TRPS1):c.*3400C>T http://identifiers.org/clinvar/357011 ^@ NM_006502.2(POLH):c.*5349T>C http://identifiers.org/clinvar/361649 ^@ NM_014112.4(TRPS1):c.-487A>C http://identifiers.org/clinvar/356861 ^@ NM_014780.4(CUL7):c.-236G>A http://identifiers.org/clinvar/365949 ^@ NM_016219.4(MAN1B1):c.620+9C>T http://identifiers.org/clinvar/365999 ^@ NM_024757.4(EHMT1):c.631G>A (p.Val211Ile) http://identifiers.org/clinvar/357161 ^@ NM_012120.2(CD2AP):c.-55_-54insAGG http://identifiers.org/clinvar/357211 ^@ NM_012120.2(CD2AP):c.*502A>G http://identifiers.org/clinvar/357061 ^@ NM_020745.3(AARS2):c.2202G>A (p.Leu734=) http://identifiers.org/clinvar/366249 ^@ NM_002451.3(MTAP):c.768T>G (p.Pro256=) http://identifiers.org/clinvar/361899 ^@ NM_004519.3(KCNQ3):c.-156C>T http://identifiers.org/clinvar/311178 ^@ NM_001846.3(COL4A2):c.4436C>T (p.Pro1479Leu) http://identifiers.org/clinvar/367238 ^@ NM_004817.3(TJP2):c.*187G>C http://identifiers.org/clinvar/311278 ^@ NM_000504.3(F10):c.747+11G>A http://identifiers.org/clinvar/367288 ^@ NM_017662.4(TRPM6):c.*516A>G http://identifiers.org/clinvar/367317 ^@ NM_017662.4(TRPM6):c.2319G>C (p.Gln773His) http://identifiers.org/clinvar/311428 ^@ NM_002010.2(FGF9):c.*124C>A http://identifiers.org/clinvar/311628 ^@ NM_018451.4(CENPJ):c.659C>T (p.Ser220Leu) http://identifiers.org/clinvar/311778 ^@ NM_000538.3(RFXAP):c.-144G>A http://identifiers.org/clinvar/367188 ^@ NM_000170.2(GLDC):c.1581-5C>T http://identifiers.org/clinvar/367417 ^@ NM_033305.2(VPS13A):c.7811G>A (p.Arg2604His) http://identifiers.org/clinvar/312328 ^@ NM_024570.3(RNASEH2B):c.-107G>A http://identifiers.org/clinvar/298702 ^@ NM_000494.3(COL17A1):c.2805A>G (p.Pro935=) http://identifiers.org/clinvar/367667 ^@ NM_000264.3(PTCH1):c.2460C>T (p.Tyr820=) http://identifiers.org/clinvar/298902 ^@ NM_004132.4(HABP2):c.402C>T (p.Tyr134=) http://identifiers.org/clinvar/312878 ^@ NM_002471.3(MYH6):c.1520T>G (p.Ile507Ser) http://identifiers.org/clinvar/304640 ^@ NM_021926.3(ALX4):c.*2469T>C http://identifiers.org/clinvar/304690 ^@ NM_021926.3(ALX4):c.*296C>T http://identifiers.org/clinvar/298752 ^@ NM_000494.3(COL17A1):c.369G>A (p.Arg123=) http://identifiers.org/clinvar/298802 ^@ NM_001134363.2(RBM20):c.3549C>T (p.Ser1183=) http://identifiers.org/clinvar/304740 ^@ NM_018389.4(SLC35C1):c.666G>A (p.Ala222=) http://identifiers.org/clinvar/298852 ^@ NM_001134363.2(RBM20):c.*2925T>G http://identifiers.org/clinvar/304790 ^@ NM_004813.2(PEX16):c.699C>T (p.Leu233=) http://identifiers.org/clinvar/313817 ^@ NM_002382.4(MAX):c.*7C>T http://identifiers.org/clinvar/299691 ^@ NM_014317.4(PDSS1):c.51G>A (p.Ala17=) http://identifiers.org/clinvar/314067 ^@ NM_031427.3(DNAL1):c.*2794G>C http://identifiers.org/clinvar/314167 ^@ NM_005589.3(ALDH6A1):c.*43C>G http://identifiers.org/clinvar/299891 ^@ NM_020975.4(RET):c.1162G>A (p.Val388Ile) http://identifiers.org/clinvar/305731 ^@ NM_003977.3(AIP):c.753G>A (p.Leu251=) http://identifiers.org/clinvar/300191 ^@ NM_033056.3(PCDH15):c.1934G>T (p.Gly645Val) http://identifiers.org/clinvar/305931 ^@ NM_012309.4(SHANK2):c.-36A>G http://identifiers.org/clinvar/306031 ^@ NM_005472.4(KCNE3):c.*2242C>T http://identifiers.org/clinvar/306081 ^@ NM_005472.4(KCNE3):c.*38G>A http://identifiers.org/clinvar/300441 ^@ NM_022124.5(CDH23):c.5228C>A (p.Thr1743Asn) http://identifiers.org/clinvar/300491 ^@ NM_022124.5(CDH23):c.*430A>T http://identifiers.org/clinvar/300591 ^@ NM_004273.4(CHST3):c.*1009C>T http://identifiers.org/clinvar/306345 ^@ NM_012193.3(FZD4):c.*4069G>A http://identifiers.org/clinvar/300641 ^@ NM_004273.4(CHST3):c.*3053C>T http://identifiers.org/clinvar/300091 ^@ NM_000124.3(ERCC6):c.901C>T (p.Pro301Ser) http://identifiers.org/clinvar/300741 ^@ NM_002658.4(PLAU):c.57+6T>C http://identifiers.org/clinvar/306495 ^@ NM_005591.3(MRE11):c.508C>A (p.Gln170Lys) http://identifiers.org/clinvar/306595 ^@ NM_030962.3(SBF2):c.2600C>T (p.Pro867Leu) http://identifiers.org/clinvar/300241 ^@ NM_000417.2(IL2RA):c.*672A>G http://identifiers.org/clinvar/309634 ^@ NM_006121.3(KRT1):c.*95G>A http://identifiers.org/clinvar/311078 ^@ NM_001845.5(COL4A1):c.405C>T (p.Leu135=) http://identifiers.org/clinvar/311128 ^@ NM_001846.3(COL4A2):c.1488G>A (p.Pro496=) http://identifiers.org/clinvar/317767 ^@ NM_004862.3(LITAF):c.*711G>T http://identifiers.org/clinvar/311328 ^@ NM_021954.3(GJA3):c.*198T>C http://identifiers.org/clinvar/318169 ^@ NM_002474.2(MYH11):c.1879G>A (p.Gly627Ser) http://identifiers.org/clinvar/311578 ^@ NM_014363.5(SACS):c.-219A>G http://identifiers.org/clinvar/329989 ^@ NM_144687.3(NLRP12):c.*290A>C http://identifiers.org/clinvar/310184 ^@ NM_002076.3(GNS):c.*1353G>A http://identifiers.org/clinvar/330039 ^@ NM_144687.3(NLRP12):c.641T>C (p.Val214Ala) http://identifiers.org/clinvar/311728 ^@ NM_004795.3(KL):c.*1565T>C http://identifiers.org/clinvar/330189 ^@ NM_206828.3(NLRP7):c.-49C>T http://identifiers.org/clinvar/311828 ^@ NM_001127217.2(SMAD9):c.*3354_*3358delGTTTT http://identifiers.org/clinvar/311928 ^@ NM_207361.5(FREM2):c.-251A>G http://identifiers.org/clinvar/330439 ^@ NM_000208.3(INSR):c.4028G>A (p.Arg1343Gln) http://identifiers.org/clinvar/312028 ^@ NM_207361.5(FREM2):c.8281+10G>A http://identifiers.org/clinvar/330489 ^@ NM_020533.2(MCOLN1):c.405+13G>A http://identifiers.org/clinvar/312128 ^@ NM_020751.2(COG6):c.12C>T (p.Gly4=) http://identifiers.org/clinvar/312228 ^@ NM_003701.3(TNFSF11):c.98C>A (p.Pro33Gln) http://identifiers.org/clinvar/319809 ^@ NM_001043.3(SLC6A2):c.1646T>C (p.Ile549Thr) http://identifiers.org/clinvar/320009 ^@ NM_020312.3(COQ9):c.404C>T (p.Ala135Val) http://identifiers.org/clinvar/312928 ^@ NM_006177.3(NRL):c.*813G>A http://identifiers.org/clinvar/320109 ^@ NM_001297.4(CNGB1):c.327C>T (p.Gly109=) http://identifiers.org/clinvar/320209 ^@ NM_001793.5(CDH3):c.-634_-633insG http://identifiers.org/clinvar/320259 ^@ NM_001793.5(CDH3):c.*405G>A http://identifiers.org/clinvar/320359 ^@ NM_015386.2(COG4):c.*156C>G http://identifiers.org/clinvar/311678 ^@ NM_004795.3(KL):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/320459 ^@ NM_001361.4(DHODH):c.*1051A>G http://identifiers.org/clinvar/320709 ^@ NM_022041.3(GAN):c.*2332dupT http://identifiers.org/clinvar/311978 ^@ NM_207361.5(FREM2):c.4558C>T (p.Arg1520Trp) http://identifiers.org/clinvar/320809 ^@ NM_001451.2(FOXF1):c.*472dupT http://identifiers.org/clinvar/312078 ^@ NM_207361.5(FREM2):c.*3192T>C http://identifiers.org/clinvar/312178 ^@ NM_014252.3(SLC25A15):c.343T>G (p.Phe115Val) http://identifiers.org/clinvar/313867 ^@ NM_015346.3(ZFYVE26):c.*182A>C http://identifiers.org/clinvar/313967 ^@ NM_000021.3(PSEN1):c.*1418G>A http://identifiers.org/clinvar/317667 ^@ NM_000833.4(GRIN2A):c.747C>T (p.Thr249=) http://identifiers.org/clinvar/328300 ^@ NM_006397.2(RNASEH2A):c.*50T>C http://identifiers.org/clinvar/328400 ^@ NM_000435.2(NOTCH3):c.2793-14T>C http://identifiers.org/clinvar/328450 ^@ NM_173483.3(CYP4F22):c.*90C>A http://identifiers.org/clinvar/367767 ^@ NM_002294.2(LAMP2):c.*1672C>T http://identifiers.org/clinvar/328650 ^@ NM_003721.3(RFXANK):c.*9T>C http://identifiers.org/clinvar/367917 ^@ NM_004840.2(ARHGEF6):c.*2395C>G http://identifiers.org/clinvar/367967 ^@ NM_001011658.3(TRAPPC2):c.*1848dupA http://identifiers.org/clinvar/368117 ^@ NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) http://identifiers.org/clinvar/329000 ^@ NM_000540.2(RYR1):c.2823G>A (p.Ala941=) http://identifiers.org/clinvar/329050 ^@ NM_000540.2(RYR1):c.6387C>T (p.Asp2129=) http://identifiers.org/clinvar/329100 ^@ NM_000540.2(RYR1):c.10458C>T (p.Ser3486=) http://identifiers.org/clinvar/329150 ^@ NM_033064.4(ATCAY):c.717G>A (p.Thr239=) http://identifiers.org/clinvar/368717 ^@ NM_153252.4(BRWD3):c.*1473T>A http://identifiers.org/clinvar/329889 ^@ NM_007254.3(PNKP):c.*23A>C http://identifiers.org/clinvar/330339 ^@ NM_000064.3(C3):c.588G>A (p.Pro196=) http://identifiers.org/clinvar/328550 ^@ NM_000453.2(SLC5A5):c.*238C>A http://identifiers.org/clinvar/330089 ^@ NM_015629.3(PRPF31):c.-113G>C http://identifiers.org/clinvar/330139 ^@ NM_024075.4(TSEN34):c.*688T>A http://identifiers.org/clinvar/330239 ^@ NM_175614.4(NDUFA11):c.-83G>C http://identifiers.org/clinvar/330289 ^@ NM_000064.3(C3):c.3993A>G (p.Thr1331=) http://identifiers.org/clinvar/330539 ^@ NM_006702.4(PNPLA6):c.3910-13C>T http://identifiers.org/clinvar/330589 ^@ NM_030957.3(ADAMTS10):c.2239+10T>C http://identifiers.org/clinvar/337815 ^@ NM_024411.4(PDYN):c.*1029A>G http://identifiers.org/clinvar/341566 ^@ NM_013416.3(NCF4):c.*389A>T http://identifiers.org/clinvar/342016 ^@ NM_018006.4(TRMU):c.1158G>A (p.Leu386=) http://identifiers.org/clinvar/387657 ^@ NM_000264.3(PTCH1):c.3169-17T>A http://identifiers.org/clinvar/385218 ^@ NM_002047.3(GARS):c.1578C>T (p.Tyr526=) http://identifiers.org/clinvar/390446 ^@ NM_004612.3(TGFBR1):c.249G>A (p.Pro83=) http://identifiers.org/clinvar/378729 ^@ NM_199292.2(TH):c.1196C>T (p.Thr399Met) http://identifiers.org/clinvar/382275 ^@ NM_033087.3(ALG2):c.258C>T (p.Ala86=) http://identifiers.org/clinvar/379130 ^@ NM_001134363.2(RBM20):c.523A>G (p.Ser175Gly) http://identifiers.org/clinvar/381623 ^@ NM_130799.2(MEN1):c.673G>A (p.Gly225Arg) http://identifiers.org/clinvar/381323 ^@ NM_201590.2(CACNB2):c.1141-4G>A http://identifiers.org/clinvar/385968 ^@ NM_000445.4(PLEC):c.7720C>T (p.Arg2574Trp) http://identifiers.org/clinvar/383727 ^@ NM_006158.4(NEFL):c.855C>T (p.Thr285=) http://identifiers.org/clinvar/379580 ^@ NM_000051.3(ATM):c.3285-15C>T http://identifiers.org/clinvar/381824 ^@ NM_004376.6(COX15):c.582+15A>G http://identifiers.org/clinvar/388207 ^@ NM_174934.3(SCN4B):c.647C>T (p.Pro216Leu) http://identifiers.org/clinvar/391196 ^@ NM_032531.3(KIRREL3):c.622A>G (p.Ile208Val) http://identifiers.org/clinvar/381974 ^@ NM_000218.2(KCNQ1):c.1514+19G>A http://identifiers.org/clinvar/387607 ^@ NM_000093.4(COL5A1):c.2676C>T (p.Gly892=) http://identifiers.org/clinvar/391296 ^@ NM_000093.4(COL5A1):c.2700+16C>T http://identifiers.org/clinvar/379780 ^@ NM_000059.3(BRCA2):c.4354C>T (p.Gln1452Ter) http://identifiers.org/clinvar/385468 ^@ NM_020822.2(KCNT1):c.3609C>G (p.Pro1203=) http://identifiers.org/clinvar/382124 ^@ NM_030962.3(SBF2):c.4128G>A (p.Ala1376=) http://identifiers.org/clinvar/385418 ^@ NM_006231.3(POLE):c.687C>T (p.His229=) http://identifiers.org/clinvar/378880 ^@ NM_002834.4(PTPN11):c.1628C>T (p.Thr543Ile) http://identifiers.org/clinvar/380432 ^@ NM_006231.3(POLE):c.3126G>A (p.Lys1042=) http://identifiers.org/clinvar/384818 ^@ NM_006939.3(SOS2):c.622G>A (p.Ala208Thr) http://identifiers.org/clinvar/382024 ^@ NM_005050.3(ABCD4):c.669-6G>T http://identifiers.org/clinvar/390696 ^@ NM_194279.3(ISCA2):c.-34G>A http://identifiers.org/clinvar/386068 ^@ NM_000289.5(PFKM):c.594-18T>A http://identifiers.org/clinvar/386168 ^@ NM_130838.1(UBE3A):c.81G>A (p.Thr27=) http://identifiers.org/clinvar/379430 ^@ NM_025114.3(CEP290):c.1360-4T>G http://identifiers.org/clinvar/390946 ^@ NM_144670.5(A2ML1):c.3897G>A (p.Thr1299=) http://identifiers.org/clinvar/388157 ^@ NM_000282.3(PCCA):c.42C>T (p.Ala14=) http://identifiers.org/clinvar/388107 ^@ NM_001376.4(DYNC1H1):c.4296C>G (p.Gly1432=) http://identifiers.org/clinvar/381473 ^@ NM_021098.2(CACNA1H):c.486G>T (p.Gly162=) http://identifiers.org/clinvar/380031 ^@ NM_001278503.1(STT3A):c.1117+12C>T http://identifiers.org/clinvar/387807 ^@ NM_001376.4(DYNC1H1):c.11826C>T (p.Pro3942=) http://identifiers.org/clinvar/391396 ^@ NM_014714.3(IFT140):c.386T>G (p.Leu129Trp) http://identifiers.org/clinvar/382576 ^@ NM_003476.4(CSRP3):c.294G>A (p.Pro98=) http://identifiers.org/clinvar/390646 ^@ NM_000218.2(KCNQ1):c.297G>C (p.Pro99=) http://identifiers.org/clinvar/387707 ^@ NM_014714.3(IFT140):c.4264G>A (p.Ala1422Thr) http://identifiers.org/clinvar/378780 ^@ NM_000548.4(TSC2):c.1885C>T (p.Leu629=) http://identifiers.org/clinvar/380381 ^@ NM_000548.4(TSC2):c.4165C>T (p.Pro1389Ser) http://identifiers.org/clinvar/385918 ^@ NM_002693.2(POLG):c.3363A>G (p.Glu1121=) http://identifiers.org/clinvar/47433 ^@ TTN:c.84352C>T (p.Arg28118Cys) http://identifiers.org/clinvar/47483 ^@ NM_001256850.1(TTN):c.83798G>A (p.Arg27933His) http://identifiers.org/clinvar/47533 ^@ NM_133378.4(TTN):c.85768G>C (p.Asp28590His) http://identifiers.org/clinvar/47583 ^@ NM_133378.4(TTN):c.89581G>A (p.Gly29861Ser) http://identifiers.org/clinvar/47633 ^@ NM_133378.4(TTN):c.93508C>T (p.Arg31170Cys) http://identifiers.org/clinvar/47683 ^@ NM_001256850.1(TTN):c.100204C>T (p.Arg33402Cys) http://identifiers.org/clinvar/47733 ^@ NM_001256850.1(TTN):c.10360+1857A>G http://identifiers.org/clinvar/47783 ^@ NM_133379.4(TTN):c.15280_15312del33 (p.Thr5102_Glu5112del) http://identifiers.org/clinvar/47833 ^@ NM_133432.3(TTN):c.12376G>A (p.Val4126Met) http://identifiers.org/clinvar/47883 ^@ NM_139319.2(SLC17A8):c.336T>C (p.Asp112=) http://identifiers.org/clinvar/47933 ^@ NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) http://identifiers.org/clinvar/47983 ^@ NM_153676.3(USH1C):c.1792C>T (p.Arg598Cys) http://identifiers.org/clinvar/48035 ^@ NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) http://identifiers.org/clinvar/48085 ^@ NM_005572.3(LMNA):c.810+13G>A http://identifiers.org/clinvar/48135 ^@ NM_173477.4(USH1G):c.678C>A (p.Gly226=) http://identifiers.org/clinvar/94 ^@ NM_004315.5(ASAH1):c.1006A>G (p.Asn336Asp) http://identifiers.org/clinvar/144 ^@ NM_033409.3(SLC52A3):c.1238T>C (p.Val413Ala) http://identifiers.org/clinvar/231 ^@ NM_182758.3(WDR72):c.2348C>G (p.Ser783Ter) http://identifiers.org/clinvar/406 ^@ NM_000353.2(TAT):c.236-5A>G http://identifiers.org/clinvar/438 ^@ NM_005581.4(BCAM):c.230G>A (p.Arg77His) http://identifiers.org/clinvar/447 ^@ NM_133459.3(CCBE1):c.979G>C (p.Gly327Arg) http://identifiers.org/clinvar/488 ^@ RNF168, 4-BP DEL, 1323ACAA http://identifiers.org/clinvar/615 ^@ NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) http://identifiers.org/clinvar/991 ^@ NM_020800.2(IFT80):c.2101G>C (p.Ala701Pro) http://identifiers.org/clinvar/1044 ^@ NM_024306.4(FA2H):c.103G>T (p.Asp35Tyr) http://identifiers.org/clinvar/1067 ^@ NM_018122.4(DARS2):c.1877T>A (p.Leu626Gln) http://identifiers.org/clinvar/1076 ^@ NM_015272.4(RPGRIP1L):c.2050C>T (p.Gln684Ter) http://identifiers.org/clinvar/1085 ^@ NM_176812.4(CHMP4B):c.386A>T (p.Asp129Val) http://identifiers.org/clinvar/1485 ^@ NM_000190.3(HMBS):c.242T>C (p.Leu81Pro) http://identifiers.org/clinvar/1530 ^@ NM_000237.2(LPL):c.809G>A (p.Arg270His) http://identifiers.org/clinvar/1576 ^@ NM_002150.2(HPD):c.1005C>G (p.Ile335Met) http://identifiers.org/clinvar/1621 ^@ ACADVL, 105-BP DEL http://identifiers.org/clinvar/1670 ^@ CYP27B1, 5-BP DEL/6-BP INS http://identifiers.org/clinvar/1715 ^@ NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) http://identifiers.org/clinvar/1762 ^@ NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) http://identifiers.org/clinvar/1811 ^@ SPRED1, IVS5DS, G-A, +1 http://identifiers.org/clinvar/1857 ^@ D2HGDH, 2-BP DUP, 326TC http://identifiers.org/clinvar/1901 ^@ NM_000060.4(BTD):c.755A>G (p.Asp252Gly) http://identifiers.org/clinvar/1947 ^@ NM_030957.3(ADAMTS10):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/1992 ^@ NM_182896.2(ARL13B):c.246G>A (p.Trp82Ter) http://identifiers.org/clinvar/2036 ^@ NM_017780.3(CHD7):c.164A>G (p.His55Arg) http://identifiers.org/clinvar/2081 ^@ NM_000159.3(GCDH):c.883T>C (p.Tyr295His) http://identifiers.org/clinvar/2127 ^@ NM_005787.5(ALG3):c.353G>A (p.Gly118Asp) http://identifiers.org/clinvar/2174 ^@ NM_022370.3(ROBO3):c.2108G>C (p.Arg703Pro) http://identifiers.org/clinvar/2219 ^@ NM_000551.3(VHL):c.499C>G (p.Arg167Gly) http://identifiers.org/clinvar/2264 ^@ NM_000101.3(CYBA):c.7C>T (p.Gln3Ter) http://identifiers.org/clinvar/2355 ^@ NM_206933.2(USH2A):c.956G>A (p.Cys319Tyr) http://identifiers.org/clinvar/2400 ^@ ASL, IVS5, G-A, +1 http://identifiers.org/clinvar/2446 ^@ NM_000434.3(NEU1):c.779T>A (p.Phe260Tyr) http://identifiers.org/clinvar/2492 ^@ EXT1, 1-BP DEL, 2120T http://identifiers.org/clinvar/2538 ^@ NM_000243.2(MEFV):c.2080A>G (p.Met694Val) http://identifiers.org/clinvar/2586 ^@ NM_198586.2(NHLRC1):c.76T>A (p.Cys26Ser) http://identifiers.org/clinvar/2630 ^@ NM_001037633.1(SIL1):c.603_607delGAAGA (p.Glu201Aspfs) http://identifiers.org/clinvar/10162 ^@ F8, IVS4AS, A-G, -2 http://identifiers.org/clinvar/10207 ^@ NM_000132.3(F8):c.1197_1198delAA (p.Lys399Asnfs) http://identifiers.org/clinvar/10252 ^@ NM_000132.3(F8):c.3548_3549delAA (p.Lys1183Argfs) http://identifiers.org/clinvar/10298 ^@ NM_000132.3(F8):c.5936G>T (p.Gly1979Val) http://identifiers.org/clinvar/10342 ^@ F8, EX14-22DEL http://identifiers.org/clinvar/10488 ^@ NM_000202.7(IDS):c.1505G>C (p.Trp502Ser) http://identifiers.org/clinvar/10533 ^@ NM_000292.2(PHKA2):c.3341C>T (p.Thr1114Ile) http://identifiers.org/clinvar/10579 ^@ NM_000133.3(F9):c.316G>A (p.Gly106Ser) http://identifiers.org/clinvar/10623 ^@ NM_000133.3(F9):c.1307C>T (p.Ala436Val) http://identifiers.org/clinvar/10804 ^@ NM_153252.4(BRWD3):c.4786A>G (p.Lys1596Glu) http://identifiers.org/clinvar/10896 ^@ FTSJ1, IVS2, G DEL, +1 http://identifiers.org/clinvar/10940 ^@ NM_000397.3(CYBB):c.90_92delCCGinsGGT (p.Tyr30Ter) http://identifiers.org/clinvar/10987 ^@ NM_000531.5(OTC):c.422G>A (p.Arg141Gln) http://identifiers.org/clinvar/11030 ^@ NHS, 4.8-KB DEL http://identifiers.org/clinvar/11076 ^@ NM_001128834.2(PLP1):c.467C>T (p.Thr156Ile) http://identifiers.org/clinvar/11453 ^@ NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter) http://identifiers.org/clinvar/11504 ^@ NM_003159.2(CDKL5):c.863C>T (p.Thr288Ile) http://identifiers.org/clinvar/11555 ^@ NM_001159702.2(FHL1):c.310T>C (p.Cys104Arg) http://identifiers.org/clinvar/11605 ^@ DCX, 2-BP DEL, 684CT http://identifiers.org/clinvar/11655 ^@ NM_004586.2(RPS6KA3):c.340C>T (p.Arg114Trp) http://identifiers.org/clinvar/12964 ^@ NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) http://identifiers.org/clinvar/13066 ^@ NM_000324.2(RHAG):c.1139G>T (p.Gly380Val) http://identifiers.org/clinvar/13117 ^@ NM_000329.2(RPE65):c.1087C>A (p.Pro363Thr) http://identifiers.org/clinvar/13168 ^@ NM_000322.4(PRPH2):c.774C>A (p.Tyr258Ter) http://identifiers.org/clinvar/13219 ^@ NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) http://identifiers.org/clinvar/13270 ^@ NM_000141.4(FGFR2):c.983A>G (p.Tyr328Cys) http://identifiers.org/clinvar/13321 ^@ PROS1, IVS11AS, A-G, -9 http://identifiers.org/clinvar/13371 ^@ NM_001042465.2(PSAP):c.1297C>T (p.Gln433Ter) http://identifiers.org/clinvar/13425 ^@ TTR, TYR116VAL http://identifiers.org/clinvar/13477 ^@ NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) http://identifiers.org/clinvar/13527 ^@ NM_003005.3(SELP):c.2266A>C (p.Thr756Pro) http://identifiers.org/clinvar/36856 ^@ NM_000458.3(HNF1B):c.962A>G (p.Asn321Ser) http://identifiers.org/clinvar/36907 ^@ p.X214Trp http://identifiers.org/clinvar/36983 ^@ NM_001277115.1(DNAH11):c.6506C>A (p.Ser2169Ter) http://identifiers.org/clinvar/37082 ^@ NM_005270.4(GLI2):c.864_865delCC (p.His289Profs) http://identifiers.org/clinvar/37168 ^@ NM_005630.2(SLCO2A1):c.754C>T (p.Arg252Ter) http://identifiers.org/clinvar/37296 ^@ NM_014956.4(CEP164):c.277C>T (p.Arg93Trp) http://identifiers.org/clinvar/37381 ^@ NM_005732.3(RAD50):c.3036+5G>A http://identifiers.org/clinvar/37432 ^@ NM_007294.3(BRCA1):c.1877_1878ins4 http://identifiers.org/clinvar/37484 ^@ NM_007294.3(BRCA1):c.2710G>T (p.Glu904Ter) http://identifiers.org/clinvar/37542 ^@ NM_007294.3(BRCA1):c.3700_3704delGTAAA (p.Val1234Glnfs) http://identifiers.org/clinvar/37595 ^@ NM_007294.3(BRCA1):c.4482_4483delAA (p.Arg1495Valfs) http://identifiers.org/clinvar/37648 ^@ NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) http://identifiers.org/clinvar/37705 ^@ NM_007294.3(BRCA1):c.824_825ins10 (p.?) http://identifiers.org/clinvar/37755 ^@ NM_000059.3(BRCA2):c.1756A>G (p.Lys586Glu) http://identifiers.org/clinvar/37809 ^@ NM_000059.3(BRCA2):c.2938G>T (p.Asp980Tyr) http://identifiers.org/clinvar/37860 ^@ NM_000059.3(BRCA2):c.3848dupT (p.Ser1284Lysfs) http://identifiers.org/clinvar/37914 ^@ NM_000059.3(BRCA2):c.4637T>C (p.Phe1546Ser) http://identifiers.org/clinvar/37968 ^@ NM_000059.3(BRCA2):c.5474C>T (p.Ala1825Val) http://identifiers.org/clinvar/38019 ^@ NM_000059.3(BRCA2):c.6125A>G (p.Gln2042Arg) http://identifiers.org/clinvar/38073 ^@ NM_000059.3(BRCA2):c.6937+5A>T http://identifiers.org/clinvar/38123 ^@ NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) http://identifiers.org/clinvar/38173 ^@ NM_000059.3(BRCA2):c.8633-4T>A http://identifiers.org/clinvar/38223 ^@ NM_000059.3(BRCA2):c.9247A>G (p.Lys3083Glu) http://identifiers.org/clinvar/38279 ^@ NM_003060.3(SLC22A5):c.641C>T (p.Ala214Val) http://identifiers.org/clinvar/50884 ^@ NM_000060.4(BTD):c.865G>C (p.Ala289Pro) http://identifiers.org/clinvar/38457 ^@ NM_014363.5(SACS):c.10907G>A (p.Arg3636Gln) http://identifiers.org/clinvar/39817 ^@ OTOG, 1-BP DEL, 5508C http://identifiers.org/clinvar/40544 ^@ NM_002834.4(PTPN11):c.1124A>G (p.Tyr375Cys) http://identifiers.org/clinvar/40605 ^@ NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) http://identifiers.org/clinvar/40678 ^@ NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) http://identifiers.org/clinvar/40764 ^@ NM_030662.3(MAP2K2):c.22delG (p.Val8Cysfs) http://identifiers.org/clinvar/40896 ^@ AMELX, 96-KB DEL http://identifiers.org/clinvar/41028 ^@ NM_000530.7(MPZ):c.649C>T (p.Pro217Ser) http://identifiers.org/clinvar/41084 ^@ NM_003611.2(OFD1):c.162_166delTGGAG (p.Ser54Argfs) http://identifiers.org/clinvar/41141 ^@ NM_003611.2(OFD1):c.709_710delAA (p.Lys237Valfs) http://identifiers.org/clinvar/41193 ^@ NM_003977.3(AIP):c.646G>T (p.Glu216Ter) http://identifiers.org/clinvar/51153 ^@ NM_000059.3(BRCA2):c.1599T>C (p.Thr533=) http://identifiers.org/clinvar/51306 ^@ NM_000059.3(BRCA2):c.2561A>G (p.Asn854Ser) http://identifiers.org/clinvar/51407 ^@ NM_000059.3(BRCA2):c.316+2T>C http://identifiers.org/clinvar/51459 ^@ NM_000059.3(BRCA2):c.3419G>C (p.Ser1140Thr) http://identifiers.org/clinvar/51510 ^@ NM_000059.3(BRCA2):c.370delA (p.Met124Trpfs) http://identifiers.org/clinvar/51561 ^@ NM_000059.3(BRCA2):c.3914T>C (p.Phe1305Ser) http://identifiers.org/clinvar/51612 ^@ NM_000059.3(BRCA2):c.4188delA (p.Glu1397Lysfs) http://identifiers.org/clinvar/51664 ^@ NM_000059.3(BRCA2):c.4537G>A (p.Asp1513Asn) http://identifiers.org/clinvar/51716 ^@ NM_000059.3(BRCA2):c.4798_4800delAAT (p.Asn1600del) http://identifiers.org/clinvar/51767 ^@ NM_000059.3(BRCA2):c.5101C>T (p.Gln1701Ter) http://identifiers.org/clinvar/51818 ^@ NM_000059.3(BRCA2):c.520C>T (p.Arg174Cys) http://identifiers.org/clinvar/51872 ^@ NM_000059.3(BRCA2):c.549T>C (p.Ser183=) http://identifiers.org/clinvar/51924 ^@ NM_000059.3(BRCA2):c.5739T>A (p.Cys1913Ter) http://identifiers.org/clinvar/51975 ^@ NM_000059.3(BRCA2):c.5964_5965delAT (p.Ser1989Argfs) http://identifiers.org/clinvar/52026 ^@ NM_000059.3(BRCA2):c.617C>G (p.Ser206Cys) http://identifiers.org/clinvar/52079 ^@ NM_000059.3(BRCA2):c.6390dupT (p.Lys2131Terfs) http://identifiers.org/clinvar/52131 ^@ NM_000059.3(BRCA2):c.6600_6601delTT (p.Ser2201Terfs) http://identifiers.org/clinvar/52182 ^@ NM_000059.3(BRCA2):c.6770C>G (p.Pro2257Arg) http://identifiers.org/clinvar/52233 ^@ NM_000059.3(BRCA2):c.6991A>G (p.Thr2331Ala) http://identifiers.org/clinvar/52284 ^@ NM_000059.3(BRCA2):c.7195A>G (p.Thr2399Ala) http://identifiers.org/clinvar/52334 ^@ NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly) http://identifiers.org/clinvar/52384 ^@ NM_000059.3(BRCA2):c.7680delT (p.Gln2561Serfs) http://identifiers.org/clinvar/52535 ^@ NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) http://identifiers.org/clinvar/52586 ^@ NM_000059.3(BRCA2):c.8435G>A (p.Gly2812Glu) http://identifiers.org/clinvar/52637 ^@ NM_000059.3(BRCA2):c.8632+135G>A http://identifiers.org/clinvar/52688 ^@ NM_000059.3(BRCA2):c.8827_8828insG (p.Gln2943Argfs) http://identifiers.org/clinvar/52738 ^@ NM_000059.3(BRCA2):c.9063_9078del16 (p.Glu3021Aspfs) http://identifiers.org/clinvar/52790 ^@ NM_000059.3(BRCA2):c.9257-16T>C http://identifiers.org/clinvar/52841 ^@ NM_000059.3(BRCA2):c.9458G>C (p.Gly3153Ala) http://identifiers.org/clinvar/52891 ^@ NM_000059.3(BRCA2):c.9690A>T (p.Leu3230Phe) http://identifiers.org/clinvar/53592 ^@ NM_000492.3(CFTR):c.2909-15T>G http://identifiers.org/clinvar/53643 ^@ NM_000492.3(CFTR):c.3061C>T (p.Pro1021Ser) http://identifiers.org/clinvar/53695 ^@ NM_000492.3(CFTR):c.325T>A (p.Tyr109Asn) http://identifiers.org/clinvar/53745 ^@ NM_000492.3(CFTR):c.3444C>A (p.Asn1148Lys) http://identifiers.org/clinvar/53796 ^@ NM_000492.3(CFTR):c.3730G>A (p.Gly1244Arg) http://identifiers.org/clinvar/53850 ^@ NM_000492.3(CFTR):c.3915T>A (p.Asp1305Glu) http://identifiers.org/clinvar/53900 ^@ NM_000492.3(CFTR):c.4141T>C (p.Tyr1381His) http://identifiers.org/clinvar/53951 ^@ NM_000492.3(CFTR):c.445G>A (p.Gly149Arg) http://identifiers.org/clinvar/54001 ^@ NM_000492.3(CFTR):c.561C>A (p.Asn187Lys) http://identifiers.org/clinvar/54051 ^@ NM_000492.3(CFTR):c.743+1G>A http://identifiers.org/clinvar/54103 ^@ NM_007294.3(BRCA1):c.101delC (p.Pro34Leufs) http://identifiers.org/clinvar/57009 ^@ GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 http://identifiers.org/clinvar/57061 ^@ GRCh38/hg38 4p15.31(chr4:19656960-20172216)x3 http://identifiers.org/clinvar/57118 ^@ GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 http://identifiers.org/clinvar/57169 ^@ GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1 http://identifiers.org/clinvar/57221 ^@ GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 http://identifiers.org/clinvar/57274 ^@ GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 http://identifiers.org/clinvar/57326 ^@ GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 http://identifiers.org/clinvar/57380 ^@ GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3 http://identifiers.org/clinvar/102460 ^@ NM_000277.1(PAH):c.-1C>T http://identifiers.org/clinvar/102512 ^@ NM_000277.1(PAH):c.1066T>C (p.Tyr356His) http://identifiers.org/clinvar/102568 ^@ NM_000277.1(PAH):c.1219C>T (p.Pro407Ser) http://identifiers.org/clinvar/102620 ^@ NM_000277.1(PAH):c.190C>A (p.His64Asn) http://identifiers.org/clinvar/102674 ^@ NM_000277.1(PAH):c.441+4A>G http://identifiers.org/clinvar/102725 ^@ NM_000277.1(PAH):c.527G>C (p.Arg176Pro) http://identifiers.org/clinvar/102776 ^@ NM_000277.1(PAH):c.665A>T (p.Asp222Val) http://identifiers.org/clinvar/102826 ^@ NM_000277.1(PAH):c.763T>G (p.Leu255Val) http://identifiers.org/clinvar/102878 ^@ NM_000277.1(PAH):c.850T>C (p.Cys284Arg) http://identifiers.org/clinvar/102936 ^@ NM_001199138.1(NLRC4):c.2614+63A>G http://identifiers.org/clinvar/102986 ^@ NM_153447.4(NLRP5):c.-397C>T http://identifiers.org/clinvar/103036 ^@ NM_001079821.2(NLRP3):c.2157-126G>A http://identifiers.org/clinvar/103086 ^@ NM_006092.2(NOD1):c.-121-85G>C http://identifiers.org/clinvar/103136 ^@ NM_024618.3(NLRX1):c.2144T>G (p.Val715Gly) http://identifiers.org/clinvar/103186 ^@ NM_032206.4(NLRC5):c.3920+20C>T http://identifiers.org/clinvar/103236 ^@ NM_138329.2(NLRP6):c.2105+139C>T http://identifiers.org/clinvar/103286 ^@ NM_153447.4(NLRP5):c.2616-24G>A http://identifiers.org/clinvar/103336 ^@ NM_176821.3(NLRP10):c.1887T>C (p.Asp629=) http://identifiers.org/clinvar/111210 ^@ NM_000416.2(IFNGR1):c.1268G>A (p.Ser423Asn) http://identifiers.org/clinvar/111260 ^@ NM_005534.3(IFNGR2):c.984G>A (p.Lys328=) http://identifiers.org/clinvar/120218 ^@ NM_198947.3(FAM111B):c.1879A>G (p.Arg627Gly) http://identifiers.org/clinvar/120272 ^@ NM_000277.1(PAH):c.284_285delTCinsCA (p.Ile95Thr) http://identifiers.org/clinvar/120322 ^@ NM_005211.3(CSF1R):c.2060dupT (p.Ser688Glufs) http://identifiers.org/clinvar/125485 ^@ NM_007294.3(BRCA1):c.-2A>T http://identifiers.org/clinvar/125560 ^@ NM_007294.3(BRCA1):c.2376delG (p.Lys793Argfs) http://identifiers.org/clinvar/125646 ^@ U14680.1:n.3829_3830insTdel35 http://identifiers.org/clinvar/125712 ^@ NM_007294.3(BRCA1):c.4463dupA (p.Asn1488Lysfs) http://identifiers.org/clinvar/125778 ^@ NM_007294.3(BRCA1):c.5152+6T>G http://identifiers.org/clinvar/125851 ^@ NM_007294.3(BRCA1):c.5467+2T>C http://identifiers.org/clinvar/125908 ^@ NM_007294.3(BRCA1):c.671-1G>T http://identifiers.org/clinvar/126586 ^@ NM_024675.3(PALB2):c.1050_1053delAACA (p.Thr351Argfs) http://identifiers.org/clinvar/126636 ^@ NM_024675.3(PALB2):c.212-70T>C http://identifiers.org/clinvar/126688 ^@ NM_024675.3(PALB2):c.2835-1G>C http://identifiers.org/clinvar/126738 ^@ NM_024675.3(PALB2):c.3356T>C (p.Leu1119Pro) http://identifiers.org/clinvar/126789 ^@ NM_000321.2(RB1):c.1925T>A (p.Leu642Ter) http://identifiers.org/clinvar/126840 ^@ NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) http://identifiers.org/clinvar/126899 ^@ NM_001005735.1(CHEK2):c.813-74G>C http://identifiers.org/clinvar/126949 ^@ NM_000428.2(LTBP2):c.1295C>T (p.Pro432Leu) http://identifiers.org/clinvar/126999 ^@ NM_005732.3(RAD50):c.1114C>T (p.Gln372Ter) http://identifiers.org/clinvar/127049 ^@ NM_134424.3(RAD52):c.*321C>A http://identifiers.org/clinvar/127106 ^@ NM_001080517.2(SETD5):c.3856delT (p.Ser1286Leufs) http://identifiers.org/clinvar/127173 ^@ NM_006019.3(TCIRG1):c.2206C>A (p.Arg736Ser) http://identifiers.org/clinvar/127272 ^@ NM_207036.1(TCF12):c.1838G>A (p.Arg613His) http://identifiers.org/clinvar/127323 ^@ NM_000038.5(APC):c.8104G>A (p.Ala2702Thr) http://identifiers.org/clinvar/127373 ^@ NM_000051.3(ATM):c.370A>G (p.Ile124Val) http://identifiers.org/clinvar/127423 ^@ NM_000051.3(ATM):c.6232T>C (p.Ser2078Pro) http://identifiers.org/clinvar/127474 ^@ NM_000057.3(BLM):c.1261G>A (p.Ala421Thr) http://identifiers.org/clinvar/127524 ^@ NM_000077.4(CDKN2A):c.298G>T (p.Ala100Ser) http://identifiers.org/clinvar/127574 ^@ NM_000179.2(MSH6):c.2780T>C (p.Ile927Thr) http://identifiers.org/clinvar/127625 ^@ NM_000251.2(MSH2):c.1027A>G (p.Asn343Asp) http://identifiers.org/clinvar/127681 ^@ NM_000314.6(PTEN):c.-909T>C http://identifiers.org/clinvar/127734 ^@ NM_000465.3(BARD1):c.2221G>T (p.Asp741Tyr) http://identifiers.org/clinvar/127784 ^@ NM_000535.6(PMS2):c.2494A>G (p.Thr832Ala) http://identifiers.org/clinvar/158662 ^@ NM_018486.2(HDAC8):c.438-15C>T http://identifiers.org/clinvar/178011 ^@ NM_001232.3(CASQ2):c.270C>A (p.Gly90=) http://identifiers.org/clinvar/179969 ^@ NM_170707.3(LMNA):c.178C>T (p.Arg60Cys) http://identifiers.org/clinvar/179669 ^@ NM_005572.3(LMNA):c.234G>C (p.Lys78Asn) http://identifiers.org/clinvar/177960 ^@ NM_015074.3(KIF1B):c.1639+10C>T http://identifiers.org/clinvar/178061 ^@ NM_005572.3(LMNA):c.1488+14C>T http://identifiers.org/clinvar/165721 ^@ NM_133378.4(TTN):c.86353A>T (p.Thr28785Ser) http://identifiers.org/clinvar/180019 ^@ NM_133378.4(TTN):c.39143C>T (p.Thr13048Met) http://identifiers.org/clinvar/177859 ^@ NM_206933.2(USH2A):c.12295-?_14133+?del http://identifiers.org/clinvar/179719 ^@ NM_001267550.2(TTN):c.91341_91343delGCGinsTAAGTGGGTGTGA (p.Leu30447Phefs) http://identifiers.org/clinvar/179819 ^@ NM_133378.4(TTN):c.82705C>T (p.Pro27569Ser) http://identifiers.org/clinvar/179519 ^@ NM_133378.4(TTN):c.32023G>C (p.Glu10675Gln) http://identifiers.org/clinvar/179419 ^@ NM_001256850.1(TTN):c.22072G>T (p.Asp7358Tyr) http://identifiers.org/clinvar/179369 ^@ NM_133378.4(TTN):c.2082C>T (p.Asp694=) http://identifiers.org/clinvar/179869 ^@ NM_005633.3(SOS1):c.1854C>T (p.Tyr618=) http://identifiers.org/clinvar/165967 ^@ NM_001256850.1(TTN):c.50589C>T (p.Asp16863=) http://identifiers.org/clinvar/177909 ^@ NM_005228.4(EGFR):c.2251_2277del27insGAT (p.Thr751_Ile759delinsAsp) http://identifiers.org/clinvar/179569 ^@ NM_032119.3(ADGRV1):c.670G>A (p.Glu224Lys) http://identifiers.org/clinvar/198456 ^@ NM_001127500.2(MET):c.1932C>T (p.His644=) http://identifiers.org/clinvar/198510 ^@ NM_004385.4(VCAN):c.3713G>C (p.Arg1238Thr) http://identifiers.org/clinvar/198561 ^@ NM_014141.5(CNTNAP2):c.1079A>G (p.Asn360Ser) http://identifiers.org/clinvar/198613 ^@ NM_000244.3(MEN1):c.997C>G (p.His333Asp) http://identifiers.org/clinvar/198664 ^@ NM_182914.2(SYNE2):c.13926A>G (p.Ile4642Met) http://identifiers.org/clinvar/198716 ^@ NM_000326.4(RLBP1):c.744C>T (p.Thr248=) http://identifiers.org/clinvar/198770 ^@ NM_001298.2(CNGA3):c.868C>T (p.Arg290Cys) http://identifiers.org/clinvar/198822 ^@ NM_005477.2(HCN4):c.2523G>A (p.Ser841=) http://identifiers.org/clinvar/198877 ^@ NM_015311.2(OBSL1):c.2715G>T (p.Lys905Asn) http://identifiers.org/clinvar/198931 ^@ NM_198859.3(PRICKLE2):c.2191A>G (p.Ser731Gly) http://identifiers.org/clinvar/198982 ^@ NM_000030.2(AGXT):c.866G>A (p.Arg289His) http://identifiers.org/clinvar/199084 ^@ NM_001079515.2(TBCE):c.833+8G>T http://identifiers.org/clinvar/201284 ^@ NM_001035.2(RYR2):c.8041A>T (p.Met2681Leu) http://identifiers.org/clinvar/201398 ^@ NM_001035.2(RYR2):c.11934G>A (p.Met3978Ile) http://identifiers.org/clinvar/201339 ^@ NM_001035.2(RYR2):c.12608C>T (p.Ala4203Val) http://identifiers.org/clinvar/201507 ^@ NM_198056.2(SCN5A):c.4229T>C (p.Leu1410Pro) http://identifiers.org/clinvar/201565 ^@ NM_198056.2(SCN5A):c.3190_3192delGAG (p.Glu1064del) http://identifiers.org/clinvar/201451 ^@ NM_198056.2(SCN5A):c.1355G>A (p.Gly452Asp) http://identifiers.org/clinvar/200695 ^@ NM_000238.3(KCNH2):c.3079dupC (p.Leu1027Profs) http://identifiers.org/clinvar/201625 ^@ NM_001103.3(ACTN2):c.126+14C>T http://identifiers.org/clinvar/202127 ^@ NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) http://identifiers.org/clinvar/201953 ^@ NM_014476.5(PDLIM3):c.715G>A (p.Asp239Asn) http://identifiers.org/clinvar/202068 ^@ NM_001134363.2(RBM20):c.2299A>C (p.Lys767Gln) http://identifiers.org/clinvar/201680 ^@ NM_004281.3(BAG3):c.512C>T (p.Ser171Phe) http://identifiers.org/clinvar/201900 ^@ NM_006393.2(NEBL):c.326T>C (p.Ile109Thr) http://identifiers.org/clinvar/201845 ^@ NM_007078.2(LDB3):c.1075G>A (p.Asp359Asn) http://identifiers.org/clinvar/201791 ^@ NM_004517.3(ILK):c.669G>T (p.Lys223Asn) http://identifiers.org/clinvar/202010 ^@ NM_004572.3(PKP2):c.256dupT (p.Tyr86Leufs) http://identifiers.org/clinvar/201735 ^@ NM_004006.2(DMD):c.5097C>A (p.Asp1699Glu) http://identifiers.org/clinvar/202233 ^@ NC_000023.10:g.(?_11541839)_(12655449_?)dup http://identifiers.org/clinvar/202525 ^@ NM_001256850.1(TTN):c.83086+5G>A http://identifiers.org/clinvar/202412 ^@ NM_001256850.1(TTN):c.75927C>G (p.Tyr25309Ter) http://identifiers.org/clinvar/202877 ^@ NM_001256850.1(TTN):c.72406A>G (p.Lys24136Glu) http://identifiers.org/clinvar/202466 ^@ NM_001256850.1(TTN):c.67925_67926delAA (p.Lys22642Serfs) http://identifiers.org/clinvar/202827 ^@ NM_001256850.1(TTN):c.65647A>G (p.Thr21883Ala) http://identifiers.org/clinvar/233045 ^@ NM_000038.5(APC):c.6383C>T (p.Ala2128Val) http://identifiers.org/clinvar/231255 ^@ NM_000038.5(APC):c.8140C>T (p.Arg2714Cys) http://identifiers.org/clinvar/231305 ^@ NM_005732.3(RAD50):c.214-5C>T http://identifiers.org/clinvar/230205 ^@ NM_005732.3(RAD50):c.749C>T (p.Pro250Leu) http://identifiers.org/clinvar/230605 ^@ NM_005732.3(RAD50):c.2923-4G>A http://identifiers.org/clinvar/232444 ^@ NM_005732.3(RAD50):c.3475+2T>C http://identifiers.org/clinvar/233797 ^@ NM_005732.3(RAD50):c.3706A>G (p.Asn1236Asp) http://identifiers.org/clinvar/231005 ^@ NM_000077.4(CDKN2A):c.82G>T (p.Val28Leu) http://identifiers.org/clinvar/233295 ^@ NM_000051.3(ATM):c.642delC (p.Lys215Argfs) http://identifiers.org/clinvar/230005 ^@ NM_000051.3(ATM):c.876G>A (p.Pro292=) http://identifiers.org/clinvar/230905 ^@ NM_000051.3(ATM):c.1192G>A (p.Asp398Asn) http://identifiers.org/clinvar/230855 ^@ NM_000051.3(ATM):c.2326T>C (p.Leu776=) http://identifiers.org/clinvar/230655 ^@ NM_000051.3(ATM):c.2436G>A (p.Met812Ile) http://identifiers.org/clinvar/229955 ^@ NM_000051.3(ATM):c.3558A>C (p.Glu1186Asp) http://identifiers.org/clinvar/233848 ^@ NM_000051.3(ATM):c.4501G>T (p.Val1501Phe) http://identifiers.org/clinvar/231155 ^@ NM_000051.3(ATM):c.5867T>A (p.Leu1956His) http://identifiers.org/clinvar/232544 ^@ NM_000051.3(ATM):c.6192C>A (p.Ile2064=) http://identifiers.org/clinvar/232044 ^@ NM_000051.3(ATM):c.8843T>C (p.Ile2948Thr) http://identifiers.org/clinvar/232995 ^@ NM_005591.3(MRE11):c.1952T>A (p.Val651Glu) http://identifiers.org/clinvar/232194 ^@ NM_005591.3(MRE11):c.1840G>A (p.Ala614Thr) http://identifiers.org/clinvar/231205 ^@ NM_005591.3(MRE11):c.454C>T (p.His152Tyr) http://identifiers.org/clinvar/230955 ^@ NM_000059.3(BRCA2):c.68A>T (p.Asp23Val) http://identifiers.org/clinvar/233195 ^@ NM_000059.3(BRCA2):c.2343C>A (p.Asn781Lys) http://identifiers.org/clinvar/231055 ^@ NM_000059.3(BRCA2):c.2611dupT (p.Ser871Phefs) http://identifiers.org/clinvar/230105 ^@ NM_000059.3(BRCA2):c.2659G>A (p.Glu887Lys) http://identifiers.org/clinvar/230055 ^@ NM_000059.3(BRCA2):c.5212A>T (p.Thr1738Ser) http://identifiers.org/clinvar/230805 ^@ NM_000059.3(BRCA2):c.5693A>G (p.Asp1898Gly) http://identifiers.org/clinvar/232494 ^@ NM_000059.3(BRCA2):c.9207T>C (p.Cys3069=) http://identifiers.org/clinvar/232244 ^@ NM_024675.3(PALB2):c.2981T>C (p.Phe994Ser) http://identifiers.org/clinvar/233395 ^@ NM_024675.3(PALB2):c.2690T>G (p.Leu897Arg) http://identifiers.org/clinvar/231405 ^@ NM_024675.3(PALB2):c.2506G>C (p.Val836Leu) http://identifiers.org/clinvar/233145 ^@ NM_004360.4(CDH1):c.297G>A (p.Leu99=) http://identifiers.org/clinvar/230755 ^@ NM_004360.4(CDH1):c.1443T>C (p.Asn481=) http://identifiers.org/clinvar/230255 ^@ NM_004360.4(CDH1):c.2348C>T (p.Thr783Ile) http://identifiers.org/clinvar/232895 ^@ NM_001042492.2(NF1):c.2238T>C (p.Asn746=) http://identifiers.org/clinvar/233495 ^@ NM_001042492.2(NF1):c.2887C>T (p.Gln963Ter) http://identifiers.org/clinvar/230355 ^@ NM_001042492.2(NF1):c.3868A>G (p.Lys1290Glu) http://identifiers.org/clinvar/230555 ^@ NM_001042492.2(NF1):c.3871-4G>C http://identifiers.org/clinvar/233245 ^@ NM_001042492.2(NF1):c.5023_5024delTC (p.Ser1675Argfs) http://identifiers.org/clinvar/230505 ^@ NM_001042492.2(NF1):c.5970A>G (p.Pro1990=) http://identifiers.org/clinvar/233345 ^@ NM_001042492.2(NF1):c.7462C>G (p.Leu2488Val) http://identifiers.org/clinvar/232795 ^@ NM_007294.3(BRCA1):c.5274A>G (p.Arg1758=) http://identifiers.org/clinvar/232294 ^@ NM_007294.3(BRCA1):c.3964A>G (p.Lys1322Glu) http://identifiers.org/clinvar/233095 ^@ NM_032043.2(BRIP1):c.1852T>C (p.Ser618Pro) http://identifiers.org/clinvar/232344 ^@ NM_000546.5(TP53):c.586C>G (p.Arg196Gly) http://identifiers.org/clinvar/231994 ^@ NM_000546.5(TP53):c.456G>A (p.Pro152=) http://identifiers.org/clinvar/230455 ^@ NM_007194.3(CHEK2):c.1486C>T (p.Gln496Ter) http://identifiers.org/clinvar/230405 ^@ NM_007194.3(CHEK2):c.1438G>A (p.Ala480Thr) http://identifiers.org/clinvar/234925 ^@ NM_001254729.1(AP4S1):c.138+3_138+6delAAGT http://identifiers.org/clinvar/235062 ^@ NM_000363.4(TNNI3):c.523C>T (p.Gln175Ter) http://identifiers.org/clinvar/235012 ^@ NC_012920.1:m.4277T>C http://identifiers.org/clinvar/239444 ^@ NM_003000.2(SDHB):c.73-?_*159+?dup http://identifiers.org/clinvar/238240 ^@ NM_001035.2(RYR2):c.6957C>T (p.Val2319=) http://identifiers.org/clinvar/241034 ^@ NM_015284.3(SZT2):c.4360G>A (p.Val1454Ile) http://identifiers.org/clinvar/238340 ^@ NM_001128425.1(MUTYH):c.1537G>T (p.Val513Leu) http://identifiers.org/clinvar/241284 ^@ NM_018328.4(MBD5):c.1327G>A (p.Val443Met) http://identifiers.org/clinvar/238690 ^@ NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn) http://identifiers.org/clinvar/238840 ^@ NM_001267550.2(TTN):c.74608delG (p.Ala24870Leufs) http://identifiers.org/clinvar/238790 ^@ NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) http://identifiers.org/clinvar/238740 ^@ NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) http://identifiers.org/clinvar/241984 ^@ NM_152383.4(DIS3L2):c.702+4A>G http://identifiers.org/clinvar/241934 ^@ NM_145038.4(DRC1):c.1492C>G (p.Leu498Val) http://identifiers.org/clinvar/239141 ^@ NM_002354.2(EPCAM):c.833C>T (p.Ala278Val) http://identifiers.org/clinvar/241734 ^@ NM_033084.4(FANCD2):c.2148C>G (p.Thr716=) http://identifiers.org/clinvar/238590 ^@ NM_001148.4(ANK2):c.7831T>C (p.Tyr2611His) http://identifiers.org/clinvar/239594 ^@ NM_003924.3(PHOX2B):c.760G>A (p.Ala254Thr) http://identifiers.org/clinvar/242234 ^@ NM_198253.2(TERT):c.2971-10G>T http://identifiers.org/clinvar/239091 ^@ NM_001999.3(FBN2):c.6512-7A>G http://identifiers.org/clinvar/238990 ^@ NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val) http://identifiers.org/clinvar/238190 ^@ NM_000816.3(GABRG2):c.789T>G (p.Ser263=) http://identifiers.org/clinvar/241434 ^@ NM_022455.4(NSD1):c.3548_3549insGA (p.Glu1184Metfs) http://identifiers.org/clinvar/239644 ^@ NM_004168.3(SDHA):c.1393C>T (p.Arg465Trp) http://identifiers.org/clinvar/241184 ^@ NM_017651.4(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA http://identifiers.org/clinvar/238640 ^@ NM_001206927.1(DNAH8):c.2685A>G (p.Gln895=) http://identifiers.org/clinvar/239391 ^@ NM_002769.4(PRSS1):c.486T>C (p.Asp162=) http://identifiers.org/clinvar/238940 ^@ NM_001277115.1(DNAH11):c.9098T>C (p.Ile3033Thr) http://identifiers.org/clinvar/238890 ^@ NM_001277115.1(DNAH11):c.11381T>A (p.Leu3794Ter) http://identifiers.org/clinvar/240934 ^@ NM_014855.2(AP5Z1):c.1284C>G (p.Leu428=) http://identifiers.org/clinvar/261583 ^@ NM_022455.4(NSD1):c.2776C>A (p.Arg926=) http://identifiers.org/clinvar/259193 ^@ NM_003900.4(SQSTM1):c.961C>T (p.Arg321Cys) http://identifiers.org/clinvar/263072 ^@ NM_182925.4(FLT4):c.986-45C>T http://identifiers.org/clinvar/259243 ^@ NM_004168.3(SDHA):c.-4A>G http://identifiers.org/clinvar/256354 ^@ NM_000521.3(HEXB):c.1082+26T>A http://identifiers.org/clinvar/262183 ^@ NM_033071.3(SYNE1):c.21978+42G>C http://identifiers.org/clinvar/261133 ^@ NM_019105.6(TNXB):c.3191G>A (p.Arg1064His) http://identifiers.org/clinvar/261433 ^@ NM_021922.2(FANCE):c.1316+19G>A http://identifiers.org/clinvar/262383 ^@ NM_138694.3(PKHD1):c.10746A>G (p.Glu3582=) http://identifiers.org/clinvar/259343 ^@ NM_004370.5(COL12A1):c.6281C>A (p.Thr2094Asn) http://identifiers.org/clinvar/256254 ^@ NM_000492.3(CFTR):c.3807C>T (p.Ile1269=) http://identifiers.org/clinvar/263122 ^@ NM_198428.2(BBS9):c.1849A>C (p.Ile617Leu) http://identifiers.org/clinvar/256304 ^@ NM_000501.3(ELN):c.1357+9C>A http://identifiers.org/clinvar/258993 ^@ NM_003235.4(TG):c.3935A>G (p.Asp1312Gly) http://identifiers.org/clinvar/257054 ^@ NM_001017420.2(ESCO2):c.510G>A (p.Val170=) http://identifiers.org/clinvar/261083 ^@ NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) http://identifiers.org/clinvar/262433 ^@ NM_139025.4(ADAMTS13):c.2105-24C>G http://identifiers.org/clinvar/261333 ^@ NM_020549.4(CHAT):c.258G>A (p.Ser86=) http://identifiers.org/clinvar/257404 ^@ NM_001083116.1(PRF1):c.539+22G>C http://identifiers.org/clinvar/256854 ^@ NM_001002295.1(GATA3):c.621C>T (p.Ala207=) http://identifiers.org/clinvar/259543 ^@ NM_004813.2(PEX16):c.113-11C>T http://identifiers.org/clinvar/261683 ^@ NM_024079.4(ALG8):c.899-43A>G http://identifiers.org/clinvar/261233 ^@ NM_020376.3(PNPLA2):c.1364C>A (p.Pro455Gln) http://identifiers.org/clinvar/259643 ^@ NM_005123.3(NR1H4):c.820-16T>A http://identifiers.org/clinvar/261183 ^@ NM_019844.3(SLCO1B3):c.1557A>G (p.Ala519=) http://identifiers.org/clinvar/256704 ^@ NM_000552.4(VWF):c.8155+50C>T http://identifiers.org/clinvar/256654 ^@ NM_000552.4(VWF):c.1451A>G (p.His484Arg) http://identifiers.org/clinvar/261833 ^@ NM_025114.3(CEP290):c.2052+30delT http://identifiers.org/clinvar/261383 ^@ NM_020937.3(FANCM):c.2632G>T (p.Val878Leu) http://identifiers.org/clinvar/258843 ^@ NM_002863.4(PYGL):c.2534A>G (p.Asn845Ser) http://identifiers.org/clinvar/257104 ^@ NM_001024858.2(SPTB):c.2781G>A (p.Gln927=) http://identifiers.org/clinvar/263272 ^@ NM_205850.2(SLC24A5):c.1079-4A>T http://identifiers.org/clinvar/334980 ^@ NM_000751.2(CHRND):c.*196G>A http://identifiers.org/clinvar/335180 ^@ NM_004544.3(NDUFA10):c.*1229C>G http://identifiers.org/clinvar/333039 ^@ NM_002500.4(NEUROD1):c.129C>A (p.Leu43=) http://identifiers.org/clinvar/333089 ^@ NM_000090.3(COL3A1):c.*799_*800delAG http://identifiers.org/clinvar/333139 ^@ NM_000393.4(COL5A2):c.2852G>A (p.Gly951Glu) http://identifiers.org/clinvar/336219 ^@ NM_001430.4(EPAS1):c.-471C>T http://identifiers.org/clinvar/336269 ^@ NM_001430.4(EPAS1):c.1908T>C (p.Asn636=) http://identifiers.org/clinvar/336319 ^@ NM_001430.4(EPAS1):c.*1724G>A http://identifiers.org/clinvar/337476 ^@ NM_017849.3(TMEM127):c.*1819C>A http://identifiers.org/clinvar/337526 ^@ NM_014014.4(SNRNP200):c.6174+4C>T http://identifiers.org/clinvar/334430 ^@ NM_002181.3(IHH):c.*83A>T http://identifiers.org/clinvar/337576 ^@ NM_020184.3(CNNM4):c.61C>G (p.Leu21Val) http://identifiers.org/clinvar/334380 ^@ NM_025216.2(WNT10A):c.-370C>A http://identifiers.org/clinvar/334780 ^@ NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) http://identifiers.org/clinvar/337176 ^@ NM_000821.6(GGCX):c.*4579G>A http://identifiers.org/clinvar/334530 ^@ NM_015311.2(OBSL1):c.762C>T (p.Thr254=) http://identifiers.org/clinvar/334880 ^@ NM_025243.3(SLC19A3):c.613A>G (p.Arg205Gly) http://identifiers.org/clinvar/337276 ^@ NM_000821.6(GGCX):c.198C>T (p.Val66=) http://identifiers.org/clinvar/334930 ^@ NM_152383.4(DIS3L2):c.265-15C>A http://identifiers.org/clinvar/334630 ^@ NM_003590.4(CUL3):c.1581A>T (p.Ala527=) http://identifiers.org/clinvar/337376 ^@ NM_022912.2(REEP1):c.*1085_*1086delCA http://identifiers.org/clinvar/335030 ^@ NM_002242.4(KCNJ13):c.*1881T>A http://identifiers.org/clinvar/335080 ^@ NM_000463.2(UGT1A1):c.300T>C (p.Phe100=) http://identifiers.org/clinvar/335280 ^@ NM_004321.7(KIF1A):c.430-14G>A http://identifiers.org/clinvar/343216 ^@ NM_000174.4(GP9):c.-78C>A http://identifiers.org/clinvar/343366 ^@ NM_153240.4(NPHP3):c.*652delG http://identifiers.org/clinvar/335230 ^@ NM_004321.7(KIF1A):c.*1972delG http://identifiers.org/clinvar/342916 ^@ NM_053025.3(MYLK):c.-197T>C http://identifiers.org/clinvar/343916 ^@ NM_000060.4(BTD):c.*211G>A http://identifiers.org/clinvar/344016 ^@ NM_001041.3(SI):c.4191G>A (p.Glu1397=) http://identifiers.org/clinvar/344066 ^@ NM_001041.3(SI):c.639T>C (p.Phe213=) http://identifiers.org/clinvar/344116 ^@ NM_005025.4(SERPINI1):c.-239G>A http://identifiers.org/clinvar/350785 ^@ NM_001999.3(FBN2):c.2249-12T>C http://identifiers.org/clinvar/350835 ^@ NM_003060.3(SLC22A5):c.*1214G>A http://identifiers.org/clinvar/350735 ^@ NM_001999.3(FBN2):c.*1118T>C http://identifiers.org/clinvar/357811 ^@ NM_001851.4(COL9A1):c.902C>T (p.Pro301Leu) http://identifiers.org/clinvar/350985 ^@ NM_017415.2(KLHL3):c.1421C>T (p.Ala474Val) http://identifiers.org/clinvar/351135 ^@ NM_001369.2(DNAH5):c.4139G>A (p.Arg1380Gln) http://identifiers.org/clinvar/358161 ^@ NM_022726.3(ELOVL4):c.-262A>G http://identifiers.org/clinvar/358311 ^@ NM_000602.4(SERPINE1):c.555G>C (p.Arg185=) http://identifiers.org/clinvar/351185 ^@ NM_199189.2(MATR3):c.*2200C>T http://identifiers.org/clinvar/351235 ^@ NM_002109.5(HARS):c.*281C>T http://identifiers.org/clinvar/358361 ^@ NM_198999.2(SLC26A5):c.-96T>A http://identifiers.org/clinvar/355322 ^@ NM_000045.3(ARG1):c.*73A>G http://identifiers.org/clinvar/358661 ^@ NM_014491.3(FOXP2):c.*3199G>A http://identifiers.org/clinvar/351485 ^@ NM_054027.4(ANKH):c.*695_*698dupTGAT http://identifiers.org/clinvar/351585 ^@ NM_024577.3(SH3TC2):c.*20564A>T http://identifiers.org/clinvar/351385 ^@ NM_002700.2(POU4F3):c.798A>G (p.Pro266=) http://identifiers.org/clinvar/355722 ^@ NM_203395.2(IYD):c.*1715G>C http://identifiers.org/clinvar/358861 ^@ NM_000883.3(IMPDH1):c.*321G>T http://identifiers.org/clinvar/355972 ^@ NM_032122.4(DTNBP1):c.438A>G (p.Arg146=) http://identifiers.org/clinvar/352193 ^@ NM_001135243.1(TCOF1):c.109-13T>C http://identifiers.org/clinvar/356272 ^@ NM_001710.5(CFB):c.450A>G (p.Arg150=) http://identifiers.org/clinvar/359661 ^@ NM_001277115.1(DNAH11):c.8888C>A (p.Ser2963Tyr) http://identifiers.org/clinvar/352093 ^@ NM_000112.3(SLC26A2):c.*4870dupT http://identifiers.org/clinvar/356372 ^@ NM_080680.2(COL11A2):c.*925G>A http://identifiers.org/clinvar/352143 ^@ NM_005211.3(CSF1R):c.1753+15C>T http://identifiers.org/clinvar/352443 ^@ NM_000337.5(SGCD):c.*7559G>C http://identifiers.org/clinvar/356672 ^@ NM_005943.5(MOCS1):c.-93A>G http://identifiers.org/clinvar/356722 ^@ NM_002098.5(GUCA1B):c.*473G>A http://identifiers.org/clinvar/357072 ^@ NM_020745.3(AARS2):c.1189-16_1189-14delTCT http://identifiers.org/clinvar/353232 ^@ NM_014324.5(AMACR):c.*1560G>A http://identifiers.org/clinvar/353482 ^@ NM_000514.3(GDNF):c.*2059C>T http://identifiers.org/clinvar/361451 ^@ NM_001385.2(DPYS):c.793+10G>T http://identifiers.org/clinvar/361400 ^@ NM_178857.5(RP1L1):c.622C>A (p.Gln208Lys) http://identifiers.org/clinvar/353332 ^@ NM_004172.4(SLC1A3):c.*313dupT http://identifiers.org/clinvar/353382 ^@ NM_133433.3(NIPBL):c.4776+12G>A http://identifiers.org/clinvar/357911 ^@ NM_012434.4(SLC17A5):c.*799T>C http://identifiers.org/clinvar/361660 ^@ NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) http://identifiers.org/clinvar/358061 ^@ NM_004999.3(MYO6):c.*4428A>G http://identifiers.org/clinvar/353532 ^@ NM_002310.5(LIFR):c.*5667T>C http://identifiers.org/clinvar/299852 ^@ NM_021252.4(RAB18):c.*2030G>T http://identifiers.org/clinvar/299952 ^@ NM_002900.2(RBP3):c.3401G>A (p.Gly1134Asp) http://identifiers.org/clinvar/306506 ^@ NM_016156.5(MTMR2):c.*1934T>C http://identifiers.org/clinvar/361050 ^@ NM_017890.4(VPS13B):c.2823C>T (p.Ser941=) http://identifiers.org/clinvar/361100 ^@ NM_017890.4(VPS13B):c.*202T>A http://identifiers.org/clinvar/300052 ^@ NM_000124.3(ERCC6):c.3191A>G (p.Asn1064Ser) http://identifiers.org/clinvar/300102 ^@ NM_000124.3(ERCC6):c.-100A>G http://identifiers.org/clinvar/300302 ^@ NM_018055.4(NODAL):c.514C>G (p.Gln172Glu) http://identifiers.org/clinvar/307006 ^@ NM_052845.3(MMAB):c.*2914G>A http://identifiers.org/clinvar/301041 ^@ NM_007055.3(POLR3A):c.3645C>T (p.Asp1215=) http://identifiers.org/clinvar/308195 ^@ NM_000719.6(CACNA1C):c.*2288G>A http://identifiers.org/clinvar/308245 ^@ NM_000719.6(CACNA1C):c.*4507G>A http://identifiers.org/clinvar/308445 ^@ NM_001040436.2(YARS2):c.*191T>C http://identifiers.org/clinvar/301341 ^@ NM_001080116.1(LDB3):c.*326C>T http://identifiers.org/clinvar/301641 ^@ NM_006204.3(PDE6C):c.2208+14A>C http://identifiers.org/clinvar/301691 ^@ NM_016341.3(PLCE1):c.950G>A (p.Ser317Asn) http://identifiers.org/clinvar/309145 ^@ NM_000217.2(KCNA1):c.412A>C (p.Lys138Gln) http://identifiers.org/clinvar/301841 ^@ NM_001002261.3(ZFYVE27):c.*40A>G http://identifiers.org/clinvar/309245 ^@ NM_000486.5(AQP2):c.*888G>T http://identifiers.org/clinvar/302091 ^@ NM_001080463.1(DYNC2H1):c.10482A>G (p.Gln3494=) http://identifiers.org/clinvar/309645 ^@ NM_006121.3(KRT1):c.1074C>T (p.Tyr358=) http://identifiers.org/clinvar/365848 ^@ NM_052813.4(CARD9):c.693G>A (p.Thr231=) http://identifiers.org/clinvar/366599 ^@ NM_001497.3(B4GALT1):c.*2729C>T http://identifiers.org/clinvar/366649 ^@ NM_001497.3(B4GALT1):c.*226G>A http://identifiers.org/clinvar/310484 ^@ NM_024685.3(BBS10):c.*177T>G http://identifiers.org/clinvar/366349 ^@ NM_003383.4(VLDLR):c.-121C>T http://identifiers.org/clinvar/310739 ^@ NM_018979.3(WNK1):c.1790G>A (p.Ser597Asn) http://identifiers.org/clinvar/310689 ^@ NM_002108.3(HAL):c.*617G>A http://identifiers.org/clinvar/366949 ^@ NM_001042413.1(GLIS3):c.*448G>A http://identifiers.org/clinvar/366549 ^@ NM_005802.4(TOPORS):c.*647dupT http://identifiers.org/clinvar/310939 ^@ NM_000123.3(ERCC5):c.3003A>G (p.Gln1001=) http://identifiers.org/clinvar/340426 ^@ NM_006657.2(FTCD):c.1050C>G (p.Arg350=) http://identifiers.org/clinvar/321913 ^@ NM_006445.3(PRPF8):c.1253C>G (p.Thr418Ser) http://identifiers.org/clinvar/322063 ^@ NM_144997.5(FLCN):c.1300+14C>T http://identifiers.org/clinvar/322013 ^@ NM_002615.6(SERPINF1):c.998-7T>A http://identifiers.org/clinvar/322113 ^@ NM_016239.3(MYO15A):c.723C>T (p.Asp241=) http://identifiers.org/clinvar/341027 ^@ NM_022081.5(HPS4):c.-185A>G http://identifiers.org/clinvar/341077 ^@ NM_000268.3(NF2):c.*106C>T http://identifiers.org/clinvar/313278 ^@ NM_018139.2(DNAAF2):c.1624C>T (p.Arg542Trp) http://identifiers.org/clinvar/341477 ^@ NM_002473.5(MYH9):c.*474C>T http://identifiers.org/clinvar/313428 ^@ NM_007374.2(SIX6):c.-114G>A http://identifiers.org/clinvar/323802 ^@ NM_001193466.1(KANSL1):c.-146_-142delCTCTT http://identifiers.org/clinvar/314178 ^@ NM_005589.3(ALDH6A1):c.730+13A>C http://identifiers.org/clinvar/323902 ^@ NM_000212.2(ITGB3):c.*1960G>A http://identifiers.org/clinvar/314278 ^@ NM_000428.2(LTBP2):c.3891G>A (p.Pro1297=) http://identifiers.org/clinvar/314378 ^@ NM_001040108.1(MLH3):c.3280+14A>T http://identifiers.org/clinvar/324209 ^@ NM_015294.4(TRIM37):c.-18C>T http://identifiers.org/clinvar/324259 ^@ NM_018488.3(TBX4):c.1083G>C (p.Val361=) http://identifiers.org/clinvar/316977 ^@ NM_017882.2(CLN6):c.*470C>T http://identifiers.org/clinvar/317227 ^@ NM_000326.4(RLBP1):c.*322C>T http://identifiers.org/clinvar/317277 ^@ NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) http://identifiers.org/clinvar/325700 ^@ NM_138793.3(CANT1):c.830C>T (p.Pro277Leu) http://identifiers.org/clinvar/325751 ^@ NM_017950.3(CCDC40):c.*18G>A http://identifiers.org/clinvar/371872 ^@ NM_007294.3(BRCA1):c.4358-2720G>A http://identifiers.org/clinvar/372022 ^@ NM_005359.5(SMAD4):c.249+9T>C http://identifiers.org/clinvar/371922 ^@ NM_001256849.1(POLD1):c.970+12G>C http://identifiers.org/clinvar/372122 ^@ NM_000527.4:c.5-kb del http://identifiers.org/clinvar/372196 ^@ NM_006341.3(MAD2L2):c.254T>A (p.Val85Glu) http://identifiers.org/clinvar/372254 ^@ NM_152416.3(NDUFAF6):c.532G>C (p.Ala178Pro) http://identifiers.org/clinvar/372978 ^@ NM_015100.3(POGZ):c.917G>A (p.Arg306Gln) http://identifiers.org/clinvar/372772 ^@ NM_000433.3(NCF2):c.366+1G>C http://identifiers.org/clinvar/372409 ^@ NM_005373.2(MPL):c.391+5G>C http://identifiers.org/clinvar/372824 ^@ NM_001256850.1(TTN):c.99730C>T (p.Arg33244Ter) http://identifiers.org/clinvar/372875 ^@ NM_006218.3(PIK3CA):c.1259_1261dupGTC (p.Cys420_Pro421insArg) http://identifiers.org/clinvar/372308 ^@ NM_014382.3(ATP2C1):c.2375_2378delTTGT (p.Phe792Serfs) http://identifiers.org/clinvar/372516 ^@ NM_006846.3(SPINK5):c.1431-12G>A http://identifiers.org/clinvar/372568 ^@ NM_000218.2(KCNQ1):c.922-1G>A http://identifiers.org/clinvar/372722 ^@ NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) http://identifiers.org/clinvar/372928 ^@ NM_006939.3(SOS2):c.2113G>T (p.Asp705Tyr) http://identifiers.org/clinvar/372618 ^@ NM_002834.4(PTPN11):c.1162G>A (p.Val388Ile) http://identifiers.org/clinvar/372358 ^@ NM_207581.3(DUOXA2):c.463C>G (p.Leu155Val) http://identifiers.org/clinvar/372670 ^@ NM_175614.4(NDUFA11):c.313+1G>A http://identifiers.org/clinvar/373028 ^@ NM_030662.3(MAP2K2):c.1047-3C>T http://identifiers.org/clinvar/372463 ^@ NM_000444.5(PHEX):c.2070+5G>C http://identifiers.org/clinvar/373920 ^@ NM_015074.3(KIF1B):c.2473G>A (p.Glu825Lys) http://identifiers.org/clinvar/373970 ^@ NM_007171.3(POMT1):c.1859G>A (p.Arg620Gln) http://identifiers.org/clinvar/374462 ^@ NM_170589.4(KNL1):c.1292A>G (p.Asp431Gly) http://identifiers.org/clinvar/374512 ^@ NM_004863.3(SPTLC2):c.1148C>T (p.Ala383Val) http://identifiers.org/clinvar/374562 ^@ NM_005989.3(AKR1D1):c.92C>T (p.Ser31Leu) http://identifiers.org/clinvar/374612 ^@ NM_004370.5(COL12A1):c.2012G>C (p.Gly671Ala) http://identifiers.org/clinvar/374662 ^@ NM_003165.3(STXBP1):c.1249+1G>C http://identifiers.org/clinvar/374712 ^@ NM_015046.5(SETX):c.7042dupT (p.Tyr2348Leufs) http://identifiers.org/clinvar/374762 ^@ NM_001034853.1(RPGR):c.2785G>T (p.Glu929Ter) http://identifiers.org/clinvar/374822 ^@ NM_000141.4(FGFR2):c.1645_1646delAAinsCT (p.Asn549Leu) http://identifiers.org/clinvar/374872 ^@ NM_014727.2(KMT2B):c.7050-2A>G http://identifiers.org/clinvar/374939 ^@ NM_000038.5(APC):c.397T>G (p.Tyr133Asp) http://identifiers.org/clinvar/374991 ^@ NM_001329556.1(REEP6):c.557dupC (p.Val187Glyfs) http://identifiers.org/clinvar/375324 ^@ NM_023073.3(C5orf42):c.2080A>G (p.Met694Val) http://identifiers.org/clinvar/375270 ^@ NM_002618.3(PEX13):c.937T>G (p.Trp313Gly) http://identifiers.org/clinvar/375375 ^@ NM_001005463.2(EBF3):c.512G>A (p.Gly171Asp) http://identifiers.org/clinvar/378283 ^@ NM_001135659.2(NRXN1):c.324G>A (p.Pro108=) http://identifiers.org/clinvar/389907 ^@ NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) http://identifiers.org/clinvar/386818 ^@ NM_001692.3(ATP6V1B1):c.262G>A (p.Ala88Thr) http://identifiers.org/clinvar/381634 ^@ NM_173076.2(ABCA12):c.1446A>C (p.Glu482Asp) http://identifiers.org/clinvar/384979 ^@ NM_007208.3(MRPL3):c.630-15G>A http://identifiers.org/clinvar/381434 ^@ NM_005051.2(QARS):c.1295+13T>C http://identifiers.org/clinvar/378538 ^@ NM_198056.2(SCN5A):c.495C>T (p.Thr165=) http://identifiers.org/clinvar/381234 ^@ NM_000179.2(MSH6):c.3456A>G (p.Val1152=) http://identifiers.org/clinvar/389757 ^@ NM_015120.4(ALMS1):c.12301+5G>A http://identifiers.org/clinvar/389407 ^@ NM_006302.2(MOGS):c.297C>T (p.Tyr99=) http://identifiers.org/clinvar/378083 ^@ NM_006859.3(LIAS):c.-29C>T http://identifiers.org/clinvar/386418 ^@ NM_000038.5(APC):c.-848A>G http://identifiers.org/clinvar/386318 ^@ NM_014244.4(ADAMTS2):c.2959-16G>A http://identifiers.org/clinvar/391746 ^@ NM_014244.4(ADAMTS2):c.1373G>A (p.Arg458His) http://identifiers.org/clinvar/383477 ^@ NM_001999.3(FBN2):c.6477T>C (p.His2159=) http://identifiers.org/clinvar/387368 ^@ NM_020117.10(LARS):c.801C>A (p.Leu267=) http://identifiers.org/clinvar/382085 ^@ NM_018297.3(NGLY1):c.1261-11A>G http://identifiers.org/clinvar/384879 ^@ NM_018341.2(ERMARD):c.1695G>A (p.Thr565=) http://identifiers.org/clinvar/385279 ^@ NM_002397.4(MEF2C):c.402+18C>T http://identifiers.org/clinvar/380783 ^@ NM_018341.2(ERMARD):c.6+7C>T http://identifiers.org/clinvar/388757 ^@ NM_000108.4(DLD):c.1182C>T (p.Tyr394=) http://identifiers.org/clinvar/386918 ^@ NM_006567.4(FARS2):c.1344G>A (p.Glu448=) http://identifiers.org/clinvar/389157 ^@ NM_000238.3(KCNH2):c.1128+1775A>G http://identifiers.org/clinvar/381084 ^@ NM_000535.6(PMS2):c.537+9A>G http://identifiers.org/clinvar/390057 ^@ NM_004415.3(DSP):c.2297+1G>A http://identifiers.org/clinvar/380181 ^@ NM_000048.3(ASL):c.1062+16C>G http://identifiers.org/clinvar/383227 ^@ NM_014141.5(CNTNAP2):c.3198C>T (p.Tyr1066=) http://identifiers.org/clinvar/389857 ^@ NM_006096.3(NDRG1):c.*2C>T http://identifiers.org/clinvar/389707 ^@ NM_058246.3(DNAJB6):c.564C>T (p.Phe188=) http://identifiers.org/clinvar/391696 ^@ NM_006766.4(KAT6A):c.4381C>T (p.Gln1461Ter) http://identifiers.org/clinvar/383327 ^@ NM_000083.2(CLCN1):c.2509-16T>G http://identifiers.org/clinvar/378689 ^@ NM_003165.3(STXBP1):c.1249+9G>C http://identifiers.org/clinvar/382776 ^@ NM_032119.3(ADGRV1):c.13434-6A>G http://identifiers.org/clinvar/389607 ^@ NM_002485.4(NBN):c.1397+4T>C http://identifiers.org/clinvar/381584 ^@ NM_000426.3(LAMA2):c.283+1G>A http://identifiers.org/clinvar/387018 ^@ NM_000426.3(LAMA2):c.408C>T (p.Ile136=) http://identifiers.org/clinvar/382876 ^@ NM_018941.3(CLN8):c.*14G>T http://identifiers.org/clinvar/385229 ^@ NM_007327.3(GRIN1):c.570+12C>T http://identifiers.org/clinvar/378233 ^@ NM_002485.4(NBN):c.348C>T (p.Cys116=) http://identifiers.org/clinvar/382726 ^@ NM_018249.5(CDK5RAP2):c.1000-20T>C http://identifiers.org/clinvar/387068 ^@ NM_000255.3(MUT):c.2022C>T (p.Leu674=) http://identifiers.org/clinvar/386768 ^@ NM_000093.4(COL5A1):c.363C>T (p.Asn121=) http://identifiers.org/clinvar/384929 ^@ NM_001130438.2(SPTAN1):c.7014-16C>T http://identifiers.org/clinvar/386868 ^@ NM_002291.2(LAMB1):c.885C>T (p.His295=) http://identifiers.org/clinvar/133286 ^@ NM_002633.2(PGM1):c.1547T>C (p.Leu516Pro) http://identifiers.org/clinvar/133352 ^@ NM_001300.5(KLF6):c.676+28C>T http://identifiers.org/clinvar/133402 ^@ NM_003820.3(TNFRSF14):c.305-401G>T http://identifiers.org/clinvar/133452 ^@ NM_007313.2(ABL1):c.1474C>G (p.Arg492Gly) http://identifiers.org/clinvar/133502 ^@ NM_152424.3(AMER1):c.876G>C (p.Lys292Asn) http://identifiers.org/clinvar/133553 ^@ NM_006015.4(ARID1A):c.5791G>C (p.Glu1931Gln) http://identifiers.org/clinvar/133603 ^@ NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) http://identifiers.org/clinvar/133653 ^@ NM_000489.4(ATRX):c.1423C>G (p.His475Asp) http://identifiers.org/clinvar/133757 ^@ NM_032043.2(BRIP1):c.2804T>G (p.Val935Gly) http://identifiers.org/clinvar/133807 ^@ NM_005188.3(CBL):c.2050C>T (p.Pro684Ser) http://identifiers.org/clinvar/133857 ^@ NM_015083.2(CDK12):c.3391A>G (p.Ile1131Val) http://identifiers.org/clinvar/133907 ^@ NM_015125.4(CIC):c.3202G>A (p.Gly1068Ser) http://identifiers.org/clinvar/133957 ^@ NM_015247.2(CYLD):c.665C>A (p.Thr222Lys) http://identifiers.org/clinvar/134007 ^@ NM_001077706.2(ECT2L):c.452A>G (p.His151Arg) http://identifiers.org/clinvar/134059 ^@ NM_001429.3(EP300):c.6586G>A (p.Gly2196Arg) http://identifiers.org/clinvar/134109 ^@ NM_000400.3(ERCC2):c.974C>T (p.Thr325Met) http://identifiers.org/clinvar/134159 ^@ NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu) http://identifiers.org/clinvar/134209 ^@ NM_000401.3(EXT2):c.331C>G (p.Pro111Ala) http://identifiers.org/clinvar/134259 ^@ NM_000135.2(FANCA):c.2706C>G (p.Asp902Glu) http://identifiers.org/clinvar/134310 ^@ NM_033084.4(FANCD2):c.983G>A (p.Arg328Gln) http://identifiers.org/clinvar/134361 ^@ NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) http://identifiers.org/clinvar/134411 ^@ NM_000142.4(FGFR3):c.1486A>G (p.Lys496Glu) http://identifiers.org/clinvar/134461 ^@ NM_003902.4(FUBP1):c.538G>T (p.Gly180Cys) http://identifiers.org/clinvar/134511 ^@ NM_000545.6(HNF1A):c.1165T>G (p.Leu389Val) http://identifiers.org/clinvar/134561 ^@ NM_004972.3(JAK2):c.718T>C (p.Phe240Leu) http://identifiers.org/clinvar/134611 ^@ NM_002253.2(KDR):c.406G>A (p.Val136Met) http://identifiers.org/clinvar/134663 ^@ NM_003482.3(KMT2D):c.1672C>T (p.Pro558Ser) http://identifiers.org/clinvar/134714 ^@ NM_003482.3(KMT2D):c.13009C>G (p.Pro4337Ala) http://identifiers.org/clinvar/134764 ^@ NM_170606.2(KMT2C):c.6197G>A (p.Arg2066Gln) http://identifiers.org/clinvar/134814 ^@ NM_170606.2(KMT2C):c.13246C>T (p.Pro4416Ser) http://identifiers.org/clinvar/134868 ^@ NM_001172567.1(MYD88):c.160A>T (p.Thr54Ser) http://identifiers.org/clinvar/135201 ^@ NM_014159.6(SETD2):c.5945A>G (p.Asp1982Gly) http://identifiers.org/clinvar/135252 ^@ NM_001128849.1(SMARCA4):c.731C>T (p.Pro244Leu) http://identifiers.org/clinvar/135302 ^@ NM_001127208.2(TET2):c.1745A>G (p.Asn582Ser) http://identifiers.org/clinvar/135352 ^@ NM_003820.3(TNFRSF14):c.408C>T (p.Ala136=) http://identifiers.org/clinvar/135403 ^@ NM_001018036.2(TSHR):c.742C>A (p.Arg248Ser) http://identifiers.org/clinvar/135453 ^@ NM_024426.4(WT1):c.745C>T (p.Pro249Ser) http://identifiers.org/clinvar/135503 ^@ NM_000545.6(HNF1A):c.1309+247G>A http://identifiers.org/clinvar/135553 ^@ NM_000244.3(MEN1):c.-23-135G>A http://identifiers.org/clinvar/186994 ^@ NM_007294.3(BRCA1):c.4574A>G (p.Gln1525Arg) http://identifiers.org/clinvar/185053 ^@ NM_007294.3(BRCA1):c.3816C>A (p.Asn1272Lys) http://identifiers.org/clinvar/187044 ^@ NM_007294.3(BRCA1):c.3392_3393delATinsTA (p.Asp1131Val) http://identifiers.org/clinvar/186543 ^@ NM_058216.2(RAD51C):c.922G>T (p.Ala308Ser) http://identifiers.org/clinvar/186944 ^@ NM_032043.2(BRIP1):c.3140T>C (p.Leu1047Ser) http://identifiers.org/clinvar/187644 ^@ NM_032043.2(BRIP1):c.349G>T (p.Glu117Ter) http://identifiers.org/clinvar/185003 ^@ NM_000546.5(TP53):c.204G>A (p.Glu68=) http://identifiers.org/clinvar/184853 ^@ NM_000455.4(STK11):c.936A>G (p.Lys312=) http://identifiers.org/clinvar/185703 ^@ NM_000455.4(STK11):c.1167C>G (p.Ala389=) http://identifiers.org/clinvar/185403 ^@ NM_007194.3(CHEK2):c.1097T>C (p.Ile366Thr) http://identifiers.org/clinvar/186744 ^@ NM_007194.3(CHEK2):c.104C>G (p.Ser35Cys) http://identifiers.org/clinvar/187694 ^@ NM_007194.3(CHEK2):c.85C>T (p.Gln29Ter) http://identifiers.org/clinvar/187798 ^@ NM_005215.3(DCC):c.1336_1337insAGCC (p.Arg446Glnfs) http://identifiers.org/clinvar/187877 ^@ NM_005957.4(MTHFR):c.587G>A (p.Gly196Asp) http://identifiers.org/clinvar/187927 ^@ NM_004409.4(DMPK):c.*224_*226[160] http://identifiers.org/clinvar/188179 ^@ NM_014946.3(SPAST):c.1291C>T (p.Arg431Ter) http://identifiers.org/clinvar/228564 ^@ NM_015404.3(WHRN):c.35C>T (p.Ser12Leu) http://identifiers.org/clinvar/227333 ^@ NM_014908.3(DOLK):c.1314C>T (p.Leu438=) http://identifiers.org/clinvar/227663 ^@ NM_017433.4(MYO3A):c.1566A>C (p.Gly522=) http://identifiers.org/clinvar/227713 ^@ NM_032578.3(MYPN):c.1188A>G (p.Pro396=) http://identifiers.org/clinvar/226881 ^@ NM_001277269.1(OTOG):c.328+10A>T http://identifiers.org/clinvar/227763 ^@ NM_001277269.1(OTOG):c.1322G>A (p.Arg441Gln) http://identifiers.org/clinvar/227563 ^@ NM_000256.3(MYBPC3):c.1791-10_1791-8delinsCCT http://identifiers.org/clinvar/227533 ^@ NM_001145308.4(LRTOMT):c.118T>C (p.Leu40=) http://identifiers.org/clinvar/227813 ^@ NM_173591.3(OTOGL):c.2330T>C (p.Phe777Ser) http://identifiers.org/clinvar/228264 ^@ NM_004004.5(GJB2):c.389G>C (p.Gly130Ala) http://identifiers.org/clinvar/228614 ^@ NM_031427.3(DNAL1):c.-14T>G http://identifiers.org/clinvar/227964 ^@ NM_153700.2(STRC):c.2016A>G (p.Leu672=) http://identifiers.org/clinvar/228314 ^@ NM_000138.4(FBN1):c.1415A= (p.Tyr472=) http://identifiers.org/clinvar/226831 ^@ NM_003803.3(MYOM1):c.590C>T (p.Thr197Met) http://identifiers.org/clinvar/227383 ^@ NM_133261.2(GIPC3):c.706-7C>T http://identifiers.org/clinvar/228514 ^@ NM_001039213.3(CEACAM16):c.1267+1G>A http://identifiers.org/clinvar/227613 ^@ NM_002473.5(MYH9):c.4653C>T (p.Thr1551=) http://identifiers.org/clinvar/227483 ^@ NM_002294.2(LAMP2):c.276C>T (p.Phe92=) http://identifiers.org/clinvar/234872 ^@ NM_000059.3(BRCA2):c.3059_3060delCT (p.Ser1020Terfs) http://identifiers.org/clinvar/230305 ^@ NM_000059.3(BRCA2):c.5711T>A (p.Leu1904His) http://identifiers.org/clinvar/234821 ^@ NM_000455.4(STK11):c.749C>T (p.Thr250Met) http://identifiers.org/clinvar/232945 ^@ NM_001128425.1(MUTYH):c.576G>A (p.Lys192=) http://identifiers.org/clinvar/232645 ^@ NM_000465.3(BARD1):c.1737A>G (p.Ser579=) http://identifiers.org/clinvar/232094 ^@ NM_000465.3(BARD1):c.1380T>A (p.Ala460=) http://identifiers.org/clinvar/232745 ^@ NM_000465.3(BARD1):c.676G>C (p.Asp226His) http://identifiers.org/clinvar/232695 ^@ NM_000251.2(MSH2):c.-68-32G>A http://identifiers.org/clinvar/230705 ^@ NM_000251.2(MSH2):c.267A>C (p.Val89=) http://identifiers.org/clinvar/232144 ^@ NM_000251.2(MSH2):c.1893A>T (p.Arg631Ser) http://identifiers.org/clinvar/231944 ^@ NM_000179.2(MSH6):c.926C>T (p.Ser309Phe) http://identifiers.org/clinvar/232845 ^@ NM_000249.3(MLH1):c.34G>A (p.Asp12Asn) http://identifiers.org/clinvar/230155 ^@ NM_000249.3(MLH1):c.133A>T (p.Thr45Ser) http://identifiers.org/clinvar/231105 ^@ NM_000249.3(MLH1):c.581T>G (p.Val194Gly) http://identifiers.org/clinvar/232595 ^@ NM_000249.3(MLH1):c.587A>C (p.Lys196Thr) http://identifiers.org/clinvar/232394 ^@ NM_000249.3(MLH1):c.1874A>G (p.Tyr625Cys) http://identifiers.org/clinvar/231355 ^@ NM_000038.5(APC):c.948T>C (p.Tyr316=) http://identifiers.org/clinvar/263880 ^@ NM_000138.4(FBN1):c.1807C>T (p.Gln603Ter) http://identifiers.org/clinvar/263325 ^@ NM_000138.4(FBN1):c.526C>T (p.Gln176Ter) http://identifiers.org/clinvar/263580 ^@ NM_000071.2(CBS):c.342G>A (p.Ala114=) http://identifiers.org/clinvar/264636 ^@ NM_176787.4(PIGN):c.1434+5G>A http://identifiers.org/clinvar/264700 ^@ NM_145331.2(MAP3K7):c.299T>A (p.Val100Glu) http://identifiers.org/clinvar/264751 ^@ NM_001242896.1(DEPDC5):c.640C>G (p.His214Asp) http://identifiers.org/clinvar/264856 ^@ NM_007294.3(BRCA1):c.*873delA http://identifiers.org/clinvar/264806 ^@ NM_007294.3(BRCA1):c.4185+201_4185+206dup http://identifiers.org/clinvar/265008 ^@ NM_000350.2(ABCA4):c.655A>T (p.Arg219Ter) http://identifiers.org/clinvar/265366 ^@ NM_000251.2(MSH2):c.1204C>G (p.Gln402Glu) http://identifiers.org/clinvar/265466 ^@ NM_000388.3(CASR):c.1913G>T (p.Arg638Leu) http://identifiers.org/clinvar/265161 ^@ NM_000806.5(GABRA1):c.640C>T (p.Arg214Cys) http://identifiers.org/clinvar/265667 ^@ NM_005654.5(NR2F1):c.262G>A (p.Val88Met) http://identifiers.org/clinvar/265265 ^@ NM_001082538.2(TCTN1):c.978+1G>T http://identifiers.org/clinvar/265516 ^@ NM_004572.3(PKP2):c.1292T>A (p.Leu431Ter) http://identifiers.org/clinvar/265213 ^@ NM_003482.3(KMT2D):c.1634delT (p.Leu545Argfs) http://identifiers.org/clinvar/265111 ^@ NM_001958.3(EEF1A2):c.1267C>T (p.Arg423Cys) http://identifiers.org/clinvar/265567 ^@ NM_007194.3(CHEK2):c.1170C>A (p.Tyr390Ter) http://identifiers.org/clinvar/265416 ^@ NM_000533.4(PLP1):c.191+1G>A http://identifiers.org/clinvar/265316 ^@ NM_003688.3(CASK):c.2506-2A>G http://identifiers.org/clinvar/265617 ^@ NM_152424.3(AMER1):c.1243_1259del17 (p.Met415Tyrfs) http://identifiers.org/clinvar/265749 ^@ NM_024818.4(UBA5):c.562C>T (p.Arg188Ter) http://identifiers.org/clinvar/265854 ^@ NM_002887.3(RARS):c.1367C>T (p.Ser456Leu) http://identifiers.org/clinvar/265906 ^@ NM_000527.4(LDLR):c.2312-?_*2514del http://identifiers.org/clinvar/266011 ^@ NM_016341.3(PLCE1):c.5549G>A (p.Cys1850Tyr) http://identifiers.org/clinvar/266088 ^@ NM_198428.2(BBS9):c.2115+1G>A http://identifiers.org/clinvar/266638 ^@ NM_000059.3(BRCA2):c.1482_1486delGGCTT (p.Ala495Phefs) http://identifiers.org/clinvar/266688 ^@ NM_000059.3(BRCA2):c.2245_2246insTTCAAAAGTGGAATTCAAAA (p.Ser749Ilefs) http://identifiers.org/clinvar/266538 ^@ NM_007294.3(BRCA1):c.5239delC (p.Gln1747Lysfs) http://identifiers.org/clinvar/266488 ^@ NM_007294.3(BRCA1):c.4622_4623delAG (p.Glu1541Valfs) http://identifiers.org/clinvar/266388 ^@ NM_007294.3(BRCA1):c.3583_3590delCATACACA (p.His1195Phefs) http://identifiers.org/clinvar/266338 ^@ NM_007294.3(BRCA1):c.3143delG (p.Gly1048Valfs) http://identifiers.org/clinvar/266238 ^@ NM_007294.3(BRCA1):c.2205delA (p.Glu736Lysfs) http://identifiers.org/clinvar/266188 ^@ NM_007294.3(BRCA1):c.1795_1798delAATA (p.Asn599Serfs) http://identifiers.org/clinvar/266138 ^@ NM_007294.3(BRCA1):c.1125_1132delAAATAGCA (p.Asn376Hisfs) http://identifiers.org/clinvar/266588 ^@ NM_007294.3(BRCA1):c.873dupA (p.Leu292Thrfs) http://identifiers.org/clinvar/266438 ^@ NM_007294.3(BRCA1):c.406delA (p.Arg136Aspfs) http://identifiers.org/clinvar/290917 ^@ NM_033071.3(SYNE1):c.15164A>C (p.Glu5055Ala) http://identifiers.org/clinvar/290967 ^@ NM_000392.4(ABCC2):c.4348G>T (p.Ala1450Ser) http://identifiers.org/clinvar/291017 ^@ NM_004655.3(AXIN2):c.2510delG (p.Gly837Alafs) http://identifiers.org/clinvar/291067 ^@ NM_201380.3(PLEC):c.7079G>A (p.Arg2360His) http://identifiers.org/clinvar/291533 ^@ NM_001854.3(COL11A1):c.1506T>C (p.Asp502=) http://identifiers.org/clinvar/291785 ^@ NM_006610.3(MASP2):c.1130T>C (p.Val377Ala) http://identifiers.org/clinvar/291885 ^@ NM_013319.2(UBIAD1):c.*847A>T http://identifiers.org/clinvar/291835 ^@ NM_003051.3(SLC16A1):c.*1085delT http://identifiers.org/clinvar/292235 ^@ NM_005957.4(MTHFR):c.1409A>T (p.Glu470Val) http://identifiers.org/clinvar/291935 ^@ NM_000036.2(AMPD1):c.322C>T (p.Arg108Cys) http://identifiers.org/clinvar/291985 ^@ NM_000549.4(TSHB):c.256G>A (p.Gly86Arg) http://identifiers.org/clinvar/292035 ^@ NM_138959.2(VANGL1):c.*1277C>T http://identifiers.org/clinvar/292585 ^@ NM_000396.3(CTSK):c.490C>A (p.Pro164Thr) http://identifiers.org/clinvar/292085 ^@ NM_138959.2(VANGL1):c.*5267G>A http://identifiers.org/clinvar/292385 ^@ NM_014874.3(MFN2):c.*256G>A http://identifiers.org/clinvar/292685 ^@ NM_152263.3(TPM3):c.*903C>T http://identifiers.org/clinvar/292435 ^@ NM_213653.3(HFE2):c.*288A>C http://identifiers.org/clinvar/292135 ^@ NM_001232.3(CASQ2):c.-206_-205dupTG http://identifiers.org/clinvar/292835 ^@ NM_005572.3(LMNA):c.295C>A (p.Arg99Ser) http://identifiers.org/clinvar/292185 ^@ NM_005957.4(MTHFR):c.*2809T>C http://identifiers.org/clinvar/292285 ^@ NM_000302.3(PLOD1):c.577A>C (p.Arg193=) http://identifiers.org/clinvar/292785 ^@ NM_001111.4(ADAR):c.650G>A (p.Ser217Asn) http://identifiers.org/clinvar/292885 ^@ NM_001012331.1(NTRK1):c.1234-15C>G http://identifiers.org/clinvar/292335 ^@ NM_005518.3(HMGCS2):c.851-14G>A http://identifiers.org/clinvar/292985 ^@ NM_003126.2(SPTA1):c.4418C>T (p.Thr1473Met) http://identifiers.org/clinvar/292485 ^@ NM_005850.4(SF3B4):c.-32C>T http://identifiers.org/clinvar/292535 ^@ NM_019032.5(ADAMTSL4):c.1555C>T (p.Arg519Trp) http://identifiers.org/clinvar/292635 ^@ NM_152263.3(TPM3):c.*5028_*5029dupAA http://identifiers.org/clinvar/293774 ^@ NM_022089.3(ATP13A2):c.2808C>T (p.Tyr936=) http://identifiers.org/clinvar/292735 ^@ NM_001111.4(ADAR):c.*844G>C http://identifiers.org/clinvar/293874 ^@ NM_033343.3(LHX4):c.*28C>A http://identifiers.org/clinvar/292935 ^@ NM_003126.2(SPTA1):c.*39G>A http://identifiers.org/clinvar/293924 ^@ NM_002065.6(GLUL):c.*922A>G http://identifiers.org/clinvar/294024 ^@ NM_005562.2(LAMC2):c.3546A>G (p.Pro1182=) http://identifiers.org/clinvar/294174 ^@ NM_031935.2(HMCN1):c.6511C>T (p.Arg2171Cys) http://identifiers.org/clinvar/294274 ^@ NM_031935.2(HMCN1):c.14323G>A (p.Gly4775Arg) http://identifiers.org/clinvar/294424 ^@ NM_024529.4(CDC73):c.*1056A>C http://identifiers.org/clinvar/294474 ^@ NM_000186.3(CFH):c.-175T>C http://identifiers.org/clinvar/294524 ^@ NM_000186.3(CFH):c.3310+12T>C http://identifiers.org/clinvar/294574 ^@ NM_001994.2(F13B):c.1320A>G (p.Glu440=) http://identifiers.org/clinvar/294624 ^@ NM_018136.4(ASPM):c.5470_5472delCAA (p.Gln1824del) http://identifiers.org/clinvar/294674 ^@ NM_201253.2(CRB1):c.2128+15A>C http://identifiers.org/clinvar/294724 ^@ NM_000069.2(CACNA1S):c.3970G>A (p.Ala1324Thr) http://identifiers.org/clinvar/294824 ^@ NM_001005337.2(PKP1):c.1557C>T (p.Ser519=) http://identifiers.org/clinvar/293824 ^@ NM_018122.4(DARS2):c.1182T>C (p.His394=) http://identifiers.org/clinvar/295124 ^@ NM_000228.2(LAMB3):c.911C>T (p.Pro304Leu) http://identifiers.org/clinvar/293974 ^@ NM_005562.2(LAMC2):c.-262T>C http://identifiers.org/clinvar/336169 ^@ NM_133259.3(LRPPRC):c.1156-8dupT http://identifiers.org/clinvar/343316 ^@ NM_014382.3(ATP2C1):c.-64A>G http://identifiers.org/clinvar/343616 ^@ NM_001184.3(ATR):c.2226T>C (p.Cys742=) http://identifiers.org/clinvar/336119 ^@ NM_133259.3(LRPPRC):c.*1563C>T http://identifiers.org/clinvar/343766 ^@ NM_000096.3(CP):c.1575A>G (p.Val525=) http://identifiers.org/clinvar/345105 ^@ NM_198056.2(SCN5A):c.*204T>C http://identifiers.org/clinvar/344166 ^@ NM_000340.1(SLC2A2):c.612+10C>A http://identifiers.org/clinvar/344316 ^@ NM_020166.4(MCCC1):c.131C>T (p.Ala44Val) http://identifiers.org/clinvar/345555 ^@ NM_147196.2(TMIE):c.*695G>A http://identifiers.org/clinvar/345655 ^@ NM_015175.2(NBEAL2):c.3414C>T (p.Ala1138=) http://identifiers.org/clinvar/337226 ^@ NM_000821.6(GGCX):c.*1736dupT http://identifiers.org/clinvar/345755 ^@ NM_002222.5(ITPR1):c.6321+7T>C http://identifiers.org/clinvar/344905 ^@ NM_000249.3(MLH1):c.-22C>T http://identifiers.org/clinvar/345055 ^@ NM_001106.3(ACVR2B):c.*9469C>T http://identifiers.org/clinvar/337426 ^@ NM_004836.6(EIF2AK3):c.-201A>G http://identifiers.org/clinvar/337326 ^@ NM_003896.3(ST3GAL5):c.*415T>C http://identifiers.org/clinvar/346305 ^@ NM_001457.3(FLNB):c.853G>A (p.Gly285Arg) http://identifiers.org/clinvar/345355 ^@ NM_020208.3(SLC6A20):c.*2492T>C http://identifiers.org/clinvar/337626 ^@ NM_001079.3(ZAP70):c.105G>A (p.Leu35=) http://identifiers.org/clinvar/337676 ^@ NM_001298.2(CNGA3):c.*469A>G http://identifiers.org/clinvar/345505 ^@ NM_024513.3(FYCO1):c.2932C>G (p.Leu978Val) http://identifiers.org/clinvar/345605 ^@ NM_002222.5(ITPR1):c.1080G>A (p.Leu360=) http://identifiers.org/clinvar/342466 ^@ NM_000551.3(VHL):c.*2224A>G http://identifiers.org/clinvar/346805 ^@ NM_014043.3(CHMP2B):c.192A>G (p.Gln64=) http://identifiers.org/clinvar/346005 ^@ NM_002292.3(LAMB2):c.1357C>T (p.Arg453Cys) http://identifiers.org/clinvar/343016 ^@ NM_000373.3(UMPS):c.*4018_*4022delATATA http://identifiers.org/clinvar/346205 ^@ NM_003392.4(WNT5A):c.*4339A>G http://identifiers.org/clinvar/343066 ^@ NM_025265.3(TSEN2):c.-20G>A http://identifiers.org/clinvar/346255 ^@ NM_003392.4(WNT5A):c.*1277G>A http://identifiers.org/clinvar/342966 ^@ NM_000373.3(UMPS):c.*1840A>G http://identifiers.org/clinvar/343116 ^@ NM_032638.4(GATA2):c.*882T>A http://identifiers.org/clinvar/343166 ^@ NM_004637.5(RAB7A):c.*183A>G http://identifiers.org/clinvar/346455 ^@ NM_198859.3(PRICKLE2):c.*1495T>C http://identifiers.org/clinvar/343516 ^@ NM_024334.2(TMEM43):c.*312A>C http://identifiers.org/clinvar/343266 ^@ NM_052985.3(IFT122):c.3421G>A (p.Val1141Met) http://identifiers.org/clinvar/343416 ^@ NM_003571.3(BFSP2):c.*159T>G http://identifiers.org/clinvar/343466 ^@ NM_000532.4(PCCB):c.555G>C (p.Thr185=) http://identifiers.org/clinvar/348294 ^@ NM_207352.3(CYP4V2):c.-128A>G http://identifiers.org/clinvar/343816 ^@ NM_174878.2(CLRN1):c.*90A>G http://identifiers.org/clinvar/343566 ^@ NM_004628.4(XPC):c.2138G>A (p.Arg713His) http://identifiers.org/clinvar/343666 ^@ NM_031850.3(AGTR1):c.-137C>A http://identifiers.org/clinvar/343966 ^@ NM_020800.2(IFT80):c.1756A>T (p.Thr586Ser) http://identifiers.org/clinvar/353982 ^@ NM_001104631.1(PDE4D):c.*348_*351delATTT http://identifiers.org/clinvar/354032 ^@ NM_174889.4(NDUFAF2):c.18T>G (p.Asp6Glu) http://identifiers.org/clinvar/353682 ^@ NM_000163.4(GHR):c.875+10G>C http://identifiers.org/clinvar/353732 ^@ NM_002203.3(ITGA2):c.185+10T>C http://identifiers.org/clinvar/358411 ^@ NM_005045.3(RELN):c.2688C>T (p.His896=) http://identifiers.org/clinvar/358561 ^@ NM_000111.2(SLC26A3):c.-40C>T http://identifiers.org/clinvar/354282 ^@ NM_000046.3(ARSB):c.*1499C>G http://identifiers.org/clinvar/354382 ^@ NM_004385.4(VCAN):c.-334C>T http://identifiers.org/clinvar/354182 ^@ NM_003719.3(PDE8B):c.*287C>T http://identifiers.org/clinvar/358711 ^@ NM_001127500.2(MET):c.*995G>T http://identifiers.org/clinvar/362599 ^@ NM_006129.4(BMP1):c.2575+14T>C http://identifiers.org/clinvar/362699 ^@ NM_000742.3(CHRNA2):c.45C>T (p.Ser15=) http://identifiers.org/clinvar/359061 ^@ NM_018238.3(AGK):c.743A>C (p.His248Pro) http://identifiers.org/clinvar/359111 ^@ NM_000083.2(CLCN1):c.1402-9C>T http://identifiers.org/clinvar/359161 ^@ NM_014141.5(CNTNAP2):c.-439C>T http://identifiers.org/clinvar/355372 ^@ NM_006208.2(ENPP1):c.*772A>T http://identifiers.org/clinvar/355872 ^@ NM_033071.3(SYNE1):c.13709T>A (p.Leu4570His) http://identifiers.org/clinvar/355672 ^@ NM_203395.2(IYD):c.-64T>C http://identifiers.org/clinvar/355922 ^@ NM_033071.3(SYNE1):c.5450C>T (p.Ala1817Val) http://identifiers.org/clinvar/360550 ^@ NM_000181.3(GUSB):c.1240C>T (p.Leu414=) http://identifiers.org/clinvar/360600 ^@ NM_153033.4(KCTD7):c.*944C>G http://identifiers.org/clinvar/356222 ^@ NM_001109809.2(ZFP57):c.112C>T (p.Arg38Trp) http://identifiers.org/clinvar/360700 ^@ NM_000941.2(POR):c.517-14_517-13delCT http://identifiers.org/clinvar/356022 ^@ NM_004562.2(PRKN):c.-30T>C http://identifiers.org/clinvar/360750 ^@ NM_001001547.2(CD36):c.121-6T>C http://identifiers.org/clinvar/356322 ^@ NM_006929.4(SKIV2L):c.954C>T (p.Ala318=) http://identifiers.org/clinvar/360950 ^@ NM_000089.3(COL1A2):c.1036-14G>T http://identifiers.org/clinvar/356622 ^@ NM_005943.5(MOCS1):c.*1539_*1540dupAA http://identifiers.org/clinvar/361250 ^@ NM_178857.5(RP1L1):c.5519C>G (p.Ala1840Gly) http://identifiers.org/clinvar/356572 ^@ NM_001145717.1(PNPLA1):c.985T>C (p.Ser329Pro) http://identifiers.org/clinvar/356972 ^@ NM_006502.2(POLH):c.*2901T>C http://identifiers.org/clinvar/361610 ^@ NM_014112.4(TRPS1):c.2766G>A (p.Lys922=) http://identifiers.org/clinvar/361501 ^@ NM_001715.2(BLK):c.*182delC http://identifiers.org/clinvar/365899 ^@ NM_019892.5(INPP5E):c.-347G>A http://identifiers.org/clinvar/357022 ^@ NM_020745.3(AARS2):c.*1720C>T http://identifiers.org/clinvar/356872 ^@ NM_203290.3(POLR1C):c.193A>G (p.Met65Val) http://identifiers.org/clinvar/356922 ^@ NM_006502.2(POLH):c.*671C>T http://identifiers.org/clinvar/357172 ^@ NM_012120.2(CD2AP):c.1181C>A (p.Pro394Gln) http://identifiers.org/clinvar/311139 ^@ NM_001846.3(COL4A2):c.1978+10A>G http://identifiers.org/clinvar/311289 ^@ NM_021954.3(GJA3):c.*3099C>A http://identifiers.org/clinvar/366849 ^@ NM_005476.5(GNE):c.-216C>T http://identifiers.org/clinvar/367428 ^@ NM_033305.2(VPS13A):c.9069A>G (p.Gly3023=) http://identifiers.org/clinvar/366899 ^@ NM_001042413.1(GLIS3):c.*3218A>C http://identifiers.org/clinvar/367478 ^@ NM_001698.2(AUH):c.-30C>G http://identifiers.org/clinvar/367578 ^@ NM_000136.2(FANCC):c.*1895T>G http://identifiers.org/clinvar/367049 ^@ NM_004170.5(SLC1A1):c.875+8A>C http://identifiers.org/clinvar/367328 ^@ NM_017662.4(TRPM6):c.945G>A (p.Val315=) http://identifiers.org/clinvar/367378 ^@ NM_033305.2(VPS13A):c.3813-6T>C http://identifiers.org/clinvar/367528 ^@ NM_006415.3(SPTLC1):c.*1170T>C http://identifiers.org/clinvar/298652 ^@ NM_017649.4(CNNM2):c.*52C>T http://identifiers.org/clinvar/367628 ^@ NM_000264.3(PTCH1):c.*2275T>A http://identifiers.org/clinvar/312628 ^@ NM_001376.4(DYNC1H1):c.4854T>C (p.Tyr1618=) http://identifiers.org/clinvar/304390 ^@ NM_024426.4(WT1):c.*820G>C http://identifiers.org/clinvar/304490 ^@ NM_000448.2(RAG1):c.-10C>T http://identifiers.org/clinvar/313028 ^@ NM_025152.2(NUBPL):c.603A>C (p.Ile201=) http://identifiers.org/clinvar/313078 ^@ NM_021914.7(CFL2):c.*2076_*2078dupCTT http://identifiers.org/clinvar/313178 ^@ NM_006194.3(PAX9):c.*344_*345delAT http://identifiers.org/clinvar/299252 ^@ NM_006214.3(PHYH):c.581C>T (p.Thr194Met) http://identifiers.org/clinvar/313528 ^@ NM_182914.2(SYNE2):c.6793T>C (p.Leu2265=) http://identifiers.org/clinvar/313578 ^@ NM_182914.2(SYNE2):c.12637A>C (p.Thr4213Pro) http://identifiers.org/clinvar/313628 ^@ NM_182914.2(SYNE2):c.17001-8T>C http://identifiers.org/clinvar/304990 ^@ NM_005055.4(RAPSN):c.-202C>T http://identifiers.org/clinvar/313728 ^@ NM_000347.5(SPTB):c.4563+11C>T http://identifiers.org/clinvar/299502 ^@ NM_001081.3(CUBN):c.2571C>T (p.Asn857=) http://identifiers.org/clinvar/299052 ^@ NM_002775.4(HTRA1):c.1221C>T (p.Asp407=) http://identifiers.org/clinvar/313828 ^@ NM_002382.4(MAX):c.-110_-107delAGTG http://identifiers.org/clinvar/313878 ^@ NM_015346.3(ZFYVE26):c.6629C>G (p.Pro2210Arg) http://identifiers.org/clinvar/305142 ^@ NM_002032.2(FTH1):c.388-5T>C http://identifiers.org/clinvar/314078 ^@ NM_031427.3(DNAL1):c.*3598G>A http://identifiers.org/clinvar/305242 ^@ NM_144585.3(SLC22A12):c.1254C>T (p.Leu418=) http://identifiers.org/clinvar/314128 ^@ NM_031427.3(DNAL1):c.*6216dupT http://identifiers.org/clinvar/305292 ^@ NM_005609.3(PYGM):c.-668C>T http://identifiers.org/clinvar/305342 ^@ NM_032193.3(RNASEH2C):c.*747G>A http://identifiers.org/clinvar/305442 ^@ NM_053054.3(CATSPER1):c.730G>A (p.Gly244Arg) http://identifiers.org/clinvar/305492 ^@ NM_000391.3(TPP1):c.*1428T>C http://identifiers.org/clinvar/305592 ^@ NM_006946.2(SPTBN2):c.1011T>G (p.Leu337=) http://identifiers.org/clinvar/305842 ^@ NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) http://identifiers.org/clinvar/300252 ^@ NM_000417.2(IL2RA):c.732C>T (p.Ala244=) http://identifiers.org/clinvar/305892 ^@ NM_012309.4(SHANK2):c.912+6171dupT http://identifiers.org/clinvar/299802 ^@ NM_032844.4(MASTL):c.2523T>C (p.Asn841=) http://identifiers.org/clinvar/306305 ^@ NM_020376.3(PNPLA2):c.964C>T (p.Leu322Phe) http://identifiers.org/clinvar/300002 ^@ NM_000124.3(ERCC6):c.*2155T>C http://identifiers.org/clinvar/300202 ^@ NM_033056.3(PCDH15):c.594G>A (p.Pro198=) http://identifiers.org/clinvar/306606 ^@ NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) http://identifiers.org/clinvar/311039 ^@ NM_001845.5(COL4A1):c.3431C>G (p.Thr1144Arg) http://identifiers.org/clinvar/311089 ^@ NM_001846.3(COL4A2):c.-277A>C http://identifiers.org/clinvar/311189 ^@ NM_001846.3(COL4A2):c.4882-13C>G http://identifiers.org/clinvar/311339 ^@ NM_021954.3(GJA3):c.885G>C (p.Ala295=) http://identifiers.org/clinvar/329650 ^@ NM_025136.3(OPA3):c.*1836C>T http://identifiers.org/clinvar/329750 ^@ NM_000554.5(CRX):c.*1961G>A http://identifiers.org/clinvar/330050 ^@ NM_144687.3(NLRP12):c.-68G>A http://identifiers.org/clinvar/311689 ^@ NM_004795.3(KL):c.967G>A (p.Val323Ile) http://identifiers.org/clinvar/318569 ^@ NM_001089.2(ABCA3):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/330350 ^@ NM_000208.3(INSR):c.*4379C>T http://identifiers.org/clinvar/310534 ^@ NM_018979.3(WNK1):c.-71G>A http://identifiers.org/clinvar/330400 ^@ NM_000208.3(INSR):c.*1870C>G http://identifiers.org/clinvar/310639 ^@ NM_025114.3(CEP290):c.-147A>T http://identifiers.org/clinvar/337826 ^@ NM_024411.4(PDYN):c.*449_*459delCATAAACAAAGinsTAA http://identifiers.org/clinvar/310789 ^@ NM_003276.2(TMPO):c.*994A>G http://identifiers.org/clinvar/337976 ^@ NM_014588.5(VSX1):c.-244G>T http://identifiers.org/clinvar/310889 ^@ NM_004115.3(FGF14):c.*176dupC http://identifiers.org/clinvar/338026 ^@ NM_006899.4(IDH3B):c.252C>T (p.His84=) http://identifiers.org/clinvar/312528 ^@ NM_052910.2(SLITRK1):c.-853C>G http://identifiers.org/clinvar/319570 ^@ NM_015247.2(CYLD):c.*4888_*4889delAT http://identifiers.org/clinvar/312678 ^@ NM_022489.3(INF2):c.507+7G>A http://identifiers.org/clinvar/311239 ^@ NM_000131.4(F7):c.*533A>C http://identifiers.org/clinvar/319820 ^@ NM_001043.3(SLC6A2):c.*398T>C http://identifiers.org/clinvar/311389 ^@ NM_006783.4(GJB6):c.-166A>C http://identifiers.org/clinvar/312978 ^@ NM_000359.2(TGM1):c.1336C>G (p.Pro446Ala) http://identifiers.org/clinvar/320120 ^@ NM_004614.4(TK2):c.*3193G>A http://identifiers.org/clinvar/320170 ^@ NM_001538.3(HSF4):c.-354C>A http://identifiers.org/clinvar/311589 ^@ NM_018451.4(CENPJ):c.*639T>C http://identifiers.org/clinvar/320270 ^@ NM_004360.4(CDH1):c.*193G>C http://identifiers.org/clinvar/313128 ^@ NM_001079668.2(NKX2-1):c.*460delT http://identifiers.org/clinvar/313228 ^@ NM_020937.3(FANCM):c.5887A>G (p.Thr1963Ala) http://identifiers.org/clinvar/313378 ^@ NM_000161.2(GCH1):c.*732A>G http://identifiers.org/clinvar/321209 ^@ NM_000303.2(PMM2):c.-70G>A http://identifiers.org/clinvar/321059 ^@ NM_001127464.2(ZNF469):c.*870delT http://identifiers.org/clinvar/321613 ^@ NM_000833.4(GRIN2A):c.1498-14_1498-13delTG http://identifiers.org/clinvar/340376 ^@ NM_001849.3(COL6A2):c.2423-9C>G http://identifiers.org/clinvar/328461 ^@ NM_000215.3(JAK3):c.*1931delT http://identifiers.org/clinvar/329400 ^@ NM_152296.4(ATP1A3):c.*39C>G http://identifiers.org/clinvar/329600 ^@ NM_025136.3(OPA3):c.*4720_*4723delATAA http://identifiers.org/clinvar/329700 ^@ NM_000554.5(CRX):c.*6G>A http://identifiers.org/clinvar/329800 ^@ NM_002103.4(GYS1):c.*370A>C http://identifiers.org/clinvar/329900 ^@ NM_024729.3(MYH14):c.-13C>T http://identifiers.org/clinvar/330000 ^@ NM_144687.3(NLRP12):c.3088C>G (p.Arg1030Gly) http://identifiers.org/clinvar/330300 ^@ NM_000064.3(C3):c.2745T>C (p.Ala915=) http://identifiers.org/clinvar/330450 ^@ NM_000208.3(INSR):c.2853G>A (p.Pro951=) http://identifiers.org/clinvar/330550 ^@ NM_006949.3(STXBP2):c.613G>A (p.Val205Ile) http://identifiers.org/clinvar/330600 ^@ NM_030957.3(ADAMTS10):c.1794G>C (p.Thr598=) http://identifiers.org/clinvar/337726 ^@ NM_000214.2(JAG1):c.*967_*970delGTTT http://identifiers.org/clinvar/338076 ^@ NM_015338.5(ASXL1):c.252+11T>C http://identifiers.org/clinvar/329450 ^@ NM_014297.4(ETHE1):c.-62C>G http://identifiers.org/clinvar/329500 ^@ NM_000400.3(ERCC2):c.*31G>A http://identifiers.org/clinvar/329950 ^@ NM_024729.3(MYH14):c.5679C>A (p.Asn1893Lys) http://identifiers.org/clinvar/330100 ^@ NM_015629.3(PRPF31):c.735C>T (p.Pro245=) http://identifiers.org/clinvar/330500 ^@ NM_020533.2(MCOLN1):c.1038G>A (p.Glu346=) http://identifiers.org/clinvar/337776 ^@ NM_000214.2(JAG1):c.-507G>A http://identifiers.org/clinvar/337926 ^@ NM_198994.2(TGM6):c.1342C>T (p.Arg448Trp) http://identifiers.org/clinvar/340476 ^@ NM_006031.5(PCNT):c.2247A>C (p.Glu749Asp) http://identifiers.org/clinvar/340527 ^@ NM_006031.5(PCNT):c.7118G>A (p.Gly2373Glu) http://identifiers.org/clinvar/340577 ^@ NM_014339.6(IL17RA):c.625G>A (p.Val209Met) http://identifiers.org/clinvar/340677 ^@ NM_014339.6(IL17RA):c.*3180delG http://identifiers.org/clinvar/340777 ^@ NM_017929.5(PEX26):c.*944C>A http://identifiers.org/clinvar/340827 ^@ NM_004782.3(SNAP29):c.-8C>G http://identifiers.org/clinvar/341127 ^@ NM_000268.3(NF2):c.*2003T>G http://identifiers.org/clinvar/341177 ^@ NM_000268.3(NF2):c.*3715C>A http://identifiers.org/clinvar/341277 ^@ NM_000343.3(SLC5A1):c.*715delG http://identifiers.org/clinvar/341327 ^@ NM_000362.4(TIMP3):c.-1082C>G http://identifiers.org/clinvar/341377 ^@ NM_000362.4(TIMP3):c.*1958T>C http://identifiers.org/clinvar/391646 ^@ NM_002291.2(LAMB1):c.349+19G>A http://identifiers.org/clinvar/388907 ^@ NM_020822.2(KCNT1):c.533C>T (p.Ala178Val) http://identifiers.org/clinvar/384729 ^@ NM_020822.2(KCNT1):c.3502+17C>T http://identifiers.org/clinvar/378991 ^@ NM_000051.3(ATM):c.6168C>T (p.Pro2056=) http://identifiers.org/clinvar/378387 ^@ NM_000535.6(PMS2):c.1545C>T (p.Cys515=) http://identifiers.org/clinvar/379041 ^@ NM_000218.2(KCNQ1):c.1383T>C (p.Tyr461=) http://identifiers.org/clinvar/389357 ^@ NM_032578.3(MYPN):c.3075+20C>T http://identifiers.org/clinvar/380984 ^@ NM_021830.4(TWNK):c.30C>T (p.Pro10=) http://identifiers.org/clinvar/389807 ^@ NM_001613.2(ACTA2):c.553C>T (p.Arg185Ter) http://identifiers.org/clinvar/382035 ^@ NM_032578.3(MYPN):c.3813C>A (p.Ile1271=) http://identifiers.org/clinvar/382926 ^@ NM_032237.4(POMK):c.795C>T (p.Asp265=) http://identifiers.org/clinvar/380231 ^@ NM_006231.3(POLE):c.4552-10G>T http://identifiers.org/clinvar/381784 ^@ NM_006231.3(POLE):c.1795-14C>T http://identifiers.org/clinvar/380934 ^@ NM_005566.3(LDHA):c.*89T>C http://identifiers.org/clinvar/387168 ^@ NM_003476.4(CSRP3):c.147C>A (p.Val49=) http://identifiers.org/clinvar/382826 ^@ NM_000051.3(ATM):c.7630-15G>T http://identifiers.org/clinvar/383377 ^@ NM_000719.6(CACNA1C):c.6342G>A (p.Ala2114=) http://identifiers.org/clinvar/389057 ^@ NM_001909.4(CTSD):c.68+10C>G http://identifiers.org/clinvar/384779 ^@ NM_024678.5(NARS2):c.-25C>G http://identifiers.org/clinvar/391596 ^@ NM_021008.3(DEAF1):c.700T>G (p.Trp234Gly) http://identifiers.org/clinvar/386268 ^@ NM_006231.3(POLE):c.6273C>T (p.Pro2091=) http://identifiers.org/clinvar/388857 ^@ NM_016725.2(FOLR1):c.493+12G>A http://identifiers.org/clinvar/381835 ^@ NM_006231.3(POLE):c.3411G>A (p.Leu1137=) http://identifiers.org/clinvar/382626 ^@ NM_014252.3(SLC25A15):c.55+12T>C http://identifiers.org/clinvar/387118 ^@ NM_006231.3(POLE):c.5736A>G (p.Glu1912=) http://identifiers.org/clinvar/383076 ^@ NM_006231.3(POLE):c.2707-9G>A http://identifiers.org/clinvar/384428 ^@ NM_014191.3(SCN8A):c.3645+19T>G http://identifiers.org/clinvar/386968 ^@ NM_013382.5(POMT2):c.1206A>C (p.Pro402=) http://identifiers.org/clinvar/384378 ^@ NM_004990.3(MARS):c.1540-3C>T http://identifiers.org/clinvar/381184 ^@ NM_001013703.3(EIF2AK4):c.4215C>T (p.Gly1405=) http://identifiers.org/clinvar/380682 ^@ NM_032578.3(MYPN):c.3493+6G>A http://identifiers.org/clinvar/386368 ^@ NM_144670.5(A2ML1):c.4234A>G (p.Thr1412Ala) http://identifiers.org/clinvar/378438 ^@ NM_000314.6(PTEN):c.-1C>T http://identifiers.org/clinvar/379091 ^@ NM_000257.3(MYH7):c.5158-15C>T http://identifiers.org/clinvar/387968 ^@ NM_000051.3(ATM):c.4818T>C (p.Leu1606=) http://identifiers.org/clinvar/389257 ^@ NM_002474.2(MYH11):c.4236G>A (p.Ala1412=) http://identifiers.org/clinvar/386568 ^@ NM_213599.2(ANO5):c.2175T>C (p.His725=) http://identifiers.org/clinvar/385329 ^@ NM_005159.4(ACTC1):c.840T>C (p.Thr280=) http://identifiers.org/clinvar/381384 ^@ NM_000548.4(TSC2):c.4398G>A (p.Ser1466=) http://identifiers.org/clinvar/379141 ^@ NM_004517.3(ILK):c.282T>C (p.Asn94=) http://identifiers.org/clinvar/378333 ^@ NM_000920.3(PC):c.2224-18C>A http://identifiers.org/clinvar/384328 ^@ NM_001244189.1(KIAA0586):c.1412G>A (p.Arg471Lys) http://identifiers.org/clinvar/381985 ^@ NM_001042432.1(CLN3):c.963-16C>A http://identifiers.org/clinvar/378589 ^@ NM_024698.5(SLC25A22):c.-41C>T http://identifiers.org/clinvar/389557 ^@ NM_004360.4(CDH1):c.2298C>T (p.Asp766=) http://identifiers.org/clinvar/378891 ^@ NM_000548.4(TSC2):c.657G>A (p.Leu219=) http://identifiers.org/clinvar/385079 ^@ NM_000548.4(TSC2):c.1258-16G>T http://identifiers.org/clinvar/389507 ^@ NM_000548.4(TSC2):c.3788C>T (p.Pro1263Leu) http://identifiers.org/clinvar/48185 ^@ NM_194248.2(OTOF):c.2075G>A (p.Arg692Gln) http://identifiers.org/clinvar/48235 ^@ NM_194248.2(OTOF):c.4463A>T (p.Asp1488Val) http://identifiers.org/clinvar/48285 ^@ NM_000335.4(SCN5A):c.1538G>A (p.Arg513His) http://identifiers.org/clinvar/48336 ^@ NM_206883.2(SLC26A5):c.1311+3G>T http://identifiers.org/clinvar/48386 ^@ NM_206933.2(USH2A):c.11928G>A (p.Thr3976=) http://identifiers.org/clinvar/48436 ^@ NM_206933.2(USH2A):c.14333C>A (p.Ala4778Asp) http://identifiers.org/clinvar/48486 ^@ NM_206933.2(USH2A):c.2256T>C (p.His752=) http://identifiers.org/clinvar/145 ^@ NM_033409.3(SLC52A3):c.82C>A (p.Pro28Thr) http://identifiers.org/clinvar/295 ^@ NM_000552.4(VWF):c.2446C>T (p.Arg816Trp) http://identifiers.org/clinvar/309 ^@ NM_000552.4(VWF):c.3445T>C (p.Cys1149Arg) http://identifiers.org/clinvar/319 ^@ NM_012338.3(TSPAN12):c.709G>C (p.Ala237Pro) http://identifiers.org/clinvar/370 ^@ NF1, 1-BP DEL, 4071C http://identifiers.org/clinvar/398 ^@ NM_019892.5(INPP5E):c.1688G>A (p.Arg563His) http://identifiers.org/clinvar/439 ^@ NM_005581.4(BCAM):c.1615A>G (p.Thr539Ala) http://identifiers.org/clinvar/534 ^@ NM_001142800.1(EYS):c.2710_2726del17 (p.Asp904Glnfs) http://identifiers.org/clinvar/566 ^@ NM_018344.5(SLC29A3):c.1045delC (p.Leu349Serfs) http://identifiers.org/clinvar/616 ^@ NM_000277.1(PAH):c.965C>G (p.Ala322Gly) http://identifiers.org/clinvar/908 ^@ NM_000181.3(GUSB):c.1069C>T (p.Arg357Ter) http://identifiers.org/clinvar/1173 ^@ NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met) http://identifiers.org/clinvar/1218 ^@ ATP13A2, 1-BP DEL, 3057C http://identifiers.org/clinvar/1269 ^@ NM_017935.4(BANK1):c.182G>A (p.Arg61His) http://identifiers.org/clinvar/1313 ^@ NM_001174089.1(SLC4A11):c.1330_1333delTACGinsA (p.Tyr444_Ala445delinsThr) http://identifiers.org/clinvar/1359 ^@ NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) http://identifiers.org/clinvar/1404 ^@ NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) http://identifiers.org/clinvar/1495 ^@ NM_001039141.2(TRIOBP):c.3349C>T (p.Arg1117Ter) http://identifiers.org/clinvar/1540 ^@ NM_000237.2(LPL):c.337T>C (p.Trp113Arg) http://identifiers.org/clinvar/1586 ^@ NM_001127255.1(NLRP7):c.2077C>T (p.Arg693Trp) http://identifiers.org/clinvar/1635 ^@ NM_001129727.2(PLEKHG4):c.-16C>T http://identifiers.org/clinvar/1680 ^@ MANBA, 375A-G http://identifiers.org/clinvar/1725 ^@ FIG4, 1-BP DEL, 759G http://identifiers.org/clinvar/1777 ^@ NM_000102.3(CYP17A1):c.1435_1438dupATCC (p.Pro480Hisfs) http://identifiers.org/clinvar/1821 ^@ NM_016302.3(CRBN):c.1255C>T (p.Arg419Ter) http://identifiers.org/clinvar/1867 ^@ PDCD10, 54-BP DEL http://identifiers.org/clinvar/1911 ^@ NM_000411.6(HLCS):c.1648G>A (p.Val550Met) http://identifiers.org/clinvar/1957 ^@ NM_000022.3(ADA):c.632G>A (p.Arg211His) http://identifiers.org/clinvar/242820 ^@ NM_000022.3(ADA):c.290A>G (p.Tyr97Cys) http://identifiers.org/clinvar/2000 ^@ NM_199242.2(UNC13D):c.766C>T (p.Arg256Ter) http://identifiers.org/clinvar/2046 ^@ NM_152443.2(RDH12):c.677A>G (p.Tyr226Cys) http://identifiers.org/clinvar/2091 ^@ DFNA5, 3-BP DEL, IVS7, -17CTT http://identifiers.org/clinvar/2137 ^@ NM_001004311.3(FIGLA):c.15_36del22 (p.Gly6Argfs) http://identifiers.org/clinvar/2677 ^@ NM_182760.3(SUMF1):c.653G>A (p.Cys218Tyr) http://identifiers.org/clinvar/2723 ^@ DSG4, IVS3, G-T, +1 http://identifiers.org/clinvar/2769 ^@ NM_024312.4(GNPTAB):c.2574_2575delGA (p.Asn859Glnfs) http://identifiers.org/clinvar/2813 ^@ NM_025074.6(FRAS1):c.4271C>G (p.Ser1424Ter) http://identifiers.org/clinvar/2859 ^@ NM_173076.2(ABCA12):c.7323delC (p.Val2442Serfs) http://identifiers.org/clinvar/2904 ^@ NM_176817.4(TAS2R38):c.145G>C (p.Ala49Pro) http://identifiers.org/clinvar/2996 ^@ NM_000543.4(SMPD1):c.1406A>C (p.Tyr469Ser) http://identifiers.org/clinvar/3042 ^@ NM_000051.3(ATM):c.5309C>G (p.Ser1770Ter) http://identifiers.org/clinvar/3141 ^@ NM_000218.2(KCNQ1):c.350C>T (p.Pro117Leu) http://identifiers.org/clinvar/3236 ^@ NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) http://identifiers.org/clinvar/3283 ^@ NM_000268.3(NF2):c.240+1G>T http://identifiers.org/clinvar/3328 ^@ NM_020436.4(SALL4):c.2713C>T (p.Arg905Ter) http://identifiers.org/clinvar/10714 ^@ GLA, EX3DEL http://identifiers.org/clinvar/11120 ^@ NM_000377.2(WAS):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/11167 ^@ CD40LG, 10-BP DEL http://identifiers.org/clinvar/11211 ^@ NM_004006.2(DMD):c.8944C>T (p.Arg2982Ter) http://identifiers.org/clinvar/11257 ^@ NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter) http://identifiers.org/clinvar/11301 ^@ NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) http://identifiers.org/clinvar/11348 ^@ NM_000061.2(BTK):c.83G>A (p.Arg28His) http://identifiers.org/clinvar/11393 ^@ BTK, 26-BP INS, NT2019 http://identifiers.org/clinvar/11706 ^@ EFNB1, EX2-5DEL http://identifiers.org/clinvar/11757 ^@ NM_001110556.1(FLNA):c.3476A>C (p.Asp1159Ala) http://identifiers.org/clinvar/11808 ^@ NM_000084.4(CLCN5):c.779G>T (p.Gly260Val) http://identifiers.org/clinvar/11858 ^@ NM_000260.3(MYO7A):c.1884C>A (p.Cys628Ter) http://identifiers.org/clinvar/11908 ^@ NM_000203.4(IDUA):c.1205G>A (p.Trp402Ter) http://identifiers.org/clinvar/11958 ^@ NM_000191.2(HMGCL):c.835G>A (p.Glu279Lys) http://identifiers.org/clinvar/12010 ^@ NM_000151.3(G6PC):c.497T>G (p.Val166Gly) http://identifiers.org/clinvar/12060 ^@ F10, SER334PRO http://identifiers.org/clinvar/12110 ^@ C7, 2-BP DEL, 1922AG http://identifiers.org/clinvar/12160 ^@ CYP21A2, 30-KB DEL http://identifiers.org/clinvar/12215 ^@ NM_000490.4(AVP):c.337G>T (p.Glu113Ter) http://identifiers.org/clinvar/12266 ^@ NM_000463.2(UGT1A1):c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) http://identifiers.org/clinvar/12318 ^@ NM_002253.2(KDR):c.1444T>C (p.Cys482Arg) http://identifiers.org/clinvar/12369 ^@ NM_000546.5(TP53):c.451C>A (p.Pro151Thr) http://identifiers.org/clinvar/12420 ^@ NM_000363.4(TNNI3):c.616A>C (p.Lys206Gln) http://identifiers.org/clinvar/12471 ^@ NM_001159287.1(TPI1):c.236G>A (p.Cys79Tyr) http://identifiers.org/clinvar/12521 ^@ NM_004612.3(TGFBR1):c.1199A>G (p.Asp400Gly) http://identifiers.org/clinvar/12571 ^@ THRB, 1-BP INS, 1590T http://identifiers.org/clinvar/12622 ^@ NM_001063.3(TF):c.829G>A (p.Gly277Ser) http://identifiers.org/clinvar/12672 ^@ NM_212472.2(PRKAR1A):c.708+1G>T http://identifiers.org/clinvar/12723 ^@ NM_000367.4(TPMT):c.626-1G>A http://identifiers.org/clinvar/12774 ^@ NM_002354.2(EPCAM):c.499dupC (p.Gln167Profs) http://identifiers.org/clinvar/12824 ^@ SOX2, 1-BP INS, 60G http://identifiers.org/clinvar/12875 ^@ NM_001040142.1(SCN2A):c.562C>T (p.Arg188Trp) http://identifiers.org/clinvar/12925 ^@ NM_000702.3(ATP1A2):c.2936C>T (p.Pro979Leu) http://identifiers.org/clinvar/12975 ^@ NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) http://identifiers.org/clinvar/13026 ^@ NM_000539.3(RHO):c.569A>G (p.Asp190Gly) http://identifiers.org/clinvar/13077 ^@ RB1, IVS20, A-G, -2 http://identifiers.org/clinvar/13128 ^@ NM_002875.4(RAD51):c.-98G>C http://identifiers.org/clinvar/13488 ^@ NM_000217.2(KCNA1):c.530T>A (p.Ile177Asn) http://identifiers.org/clinvar/36662 ^@ NM_014697.2(NOS1AP):c.864C>T (p.Ser288=) http://identifiers.org/clinvar/36714 ^@ NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/36767 ^@ NM_198056.2(SCN5A):c.647C>T (p.Ser216Leu) http://identifiers.org/clinvar/36817 ^@ NM_000545.6(HNF1A):c.313dupG (p.Glu105Glyfs) http://identifiers.org/clinvar/36867 ^@ NM_003242.5(TGFBR2):c.263+7A>G http://identifiers.org/clinvar/36919 ^@ NM_001382.3(DPAGT1):c.324G>C (p.Met108Ile) http://identifiers.org/clinvar/37013 ^@ NM_153033.4(KCTD7):c.322C>A (p.Leu108Met) http://identifiers.org/clinvar/37094 ^@ FAN1, TRP707TER http://identifiers.org/clinvar/37216 ^@ C4ORF26, ARG77TER http://identifiers.org/clinvar/37308 ^@ WDR11, PHE1150LEU http://identifiers.org/clinvar/37392 ^@ NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) http://identifiers.org/clinvar/37444 ^@ NM_007294.3(BRCA1):c.2071delA (p.Arg691Aspfs) http://identifiers.org/clinvar/37495 ^@ NM_007294.3(BRCA1):c.2981_2982delGT (p.Cys994Terfs) http://identifiers.org/clinvar/37555 ^@ NM_007294.3(BRCA1):c.3877G>C (p.Ala1293Pro) http://identifiers.org/clinvar/37606 ^@ NM_007294.3(BRCA1):c.4676-7C>T http://identifiers.org/clinvar/37661 ^@ NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) http://identifiers.org/clinvar/37716 ^@ NM_000059.3(BRCA2):c.-39-20T>C http://identifiers.org/clinvar/37767 ^@ NM_000059.3(BRCA2):c.1865C>T (p.Ala622Val) http://identifiers.org/clinvar/37872 ^@ NM_000059.3(BRCA2):c.3delG (p.Met1Ilefs) http://identifiers.org/clinvar/38619 ^@ NM_020975.4(RET):c.1832_1833delGCinsAT (p.Cys611Tyr) http://identifiers.org/clinvar/38775 ^@ NM_000495.4(COL4A5):c.3046delC (p.Gln1016Serfs) http://identifiers.org/clinvar/38888 ^@ NM_000553.4(WRN):c.2500C>T (p.Arg834Cys) http://identifiers.org/clinvar/38949 ^@ NM_001363.4(DKC1):c.29C>T (p.Pro10Leu) http://identifiers.org/clinvar/39001 ^@ NM_012330.3(KAT6B):c.4205_4206delCT (p.Ser1402Cysfs) http://identifiers.org/clinvar/39051 ^@ NM_024312.4(GNPTAB):c.2422delC (p.Leu808Trpfs) http://identifiers.org/clinvar/39105 ^@ NM_198253.2(TERT):c.2029G>T (p.Gly677Cys) http://identifiers.org/clinvar/39158 ^@ NM_198578.3(LRRK2):c.2918G>A (p.Ser973Asn) http://identifiers.org/clinvar/39208 ^@ NM_198578.3(LRRK2):c.5385G>T (p.Leu1795Phe) http://identifiers.org/clinvar/39259 ^@ NM_207352.3(CYP4V2):c.237G>T (p.Glu79Asp) http://identifiers.org/clinvar/39419 ^@ NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) http://identifiers.org/clinvar/39472 ^@ ABCC8, IVS8, A-G, -1013 http://identifiers.org/clinvar/39523 ^@ NM_000359.2(TGM1):c.1744C>T (p.Gln582Ter) http://identifiers.org/clinvar/39573 ^@ NM_152692.4(C1GALT1C1):c.577T>C (p.Ser193Pro) http://identifiers.org/clinvar/39625 ^@ DYRK1A, 2-BP DEL, 290CT http://identifiers.org/clinvar/39675 ^@ NM_014844.4(TECPR2):c.3416delT (p.Leu1139Argfs) http://identifiers.org/clinvar/39727 ^@ NM_000431.3(MVK):c.417dupC (p.Gly140Argfs) http://identifiers.org/clinvar/39778 ^@ OTOGL, 1-BP DEL, 1430T http://identifiers.org/clinvar/39829 ^@ NM_139242.3(MTFMT):c.374C>T (p.Ser125Leu) http://identifiers.org/clinvar/39972 ^@ NM_001142339.2(GNAL):c.61C>T (p.Arg21Ter) http://identifiers.org/clinvar/40072 ^@ NM_001199397.1(NEK1):c.433G>A (p.Gly145Arg) http://identifiers.org/clinvar/40227 ^@ NM_000080.3(CHRNE):c.892_894delTCT (p.Ser298del) http://identifiers.org/clinvar/40363 ^@ NM_004333.4(BRAF):c.1383A>G (p.Gln461=) http://identifiers.org/clinvar/40430 ^@ NM_005343.3(HRAS):c.35_36delGCinsCT (p.Gly12Ala) http://identifiers.org/clinvar/40500 ^@ NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) http://identifiers.org/clinvar/40556 ^@ NM_002834.4(PTPN11):c.1504T>G (p.Ser502Ala) http://identifiers.org/clinvar/40617 ^@ NM_002880.3(RAF1):c.1423T>C (p.Phe475Leu) http://identifiers.org/clinvar/40697 ^@ NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) http://identifiers.org/clinvar/40784 ^@ NM_002755.3(MAP2K1):c.291+22G>C http://identifiers.org/clinvar/51164 ^@ NM_000059.3(BRCA2):c.1644G>A (p.Gln548=) http://identifiers.org/clinvar/51215 ^@ NM_000059.3(BRCA2):c.1854delCinsAA (p.Gln619Thrfs) http://identifiers.org/clinvar/51267 ^@ NM_000059.3(BRCA2):c.22_23delAG (p.Arg8Alafs) http://identifiers.org/clinvar/51318 ^@ NM_000059.3(BRCA2):c.2636_2637delCT (p.Ser879Terfs) http://identifiers.org/clinvar/51368 ^@ NM_000059.3(BRCA2):c.289G>T (p.Glu97Ter) http://identifiers.org/clinvar/51418 ^@ NM_000059.3(BRCA2):c.3189_3192delGTCA (p.Ser1064Leufs) http://identifiers.org/clinvar/52435 ^@ NM_000059.3(BRCA2):c.7926delT (p.Phe2642Leufs) http://identifiers.org/clinvar/52485 ^@ NM_000059.3(BRCA2):c.8051A>G (p.Lys2684Arg) http://identifiers.org/clinvar/52941 ^@ NM_000218.2(KCNQ1):c.1045T>C (p.Ser349Pro) http://identifiers.org/clinvar/52991 ^@ NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) http://identifiers.org/clinvar/53041 ^@ NM_000218.2(KCNQ1):c.407G>T (p.Cys136Phe) http://identifiers.org/clinvar/53091 ^@ NM_000218.2(KCNQ1):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/53142 ^@ NM_000218.2(KCNQ1):c.946G>A (p.Gly316Arg) http://identifiers.org/clinvar/53194 ^@ NM_000492.3(CFTR):c.1117-5A>G http://identifiers.org/clinvar/53247 ^@ NM_000492.3(CFTR):c.1403T>C (p.Leu468Pro) http://identifiers.org/clinvar/53298 ^@ NM_000492.3(CFTR):c.1610_1611delAC (p.Asp537Glufs) http://identifiers.org/clinvar/53348 ^@ NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) http://identifiers.org/clinvar/53398 ^@ NM_000492.3(CFTR):c.1826A>G (p.His609Arg) http://identifiers.org/clinvar/53450 ^@ NM_000492.3(CFTR):c.2188G>T (p.Glu730Ter) http://identifiers.org/clinvar/53503 ^@ NM_000492.3(CFTR):c.2502dupT (p.Asp835Terfs) http://identifiers.org/clinvar/53553 ^@ NM_000492.3(CFTR):c.274-10C>G http://identifiers.org/clinvar/53603 ^@ NM_000492.3(CFTR):c.2936A>T (p.Asp979Val) http://identifiers.org/clinvar/53655 ^@ NM_000492.3(CFTR):c.3131A>G (p.Glu1044Gly) http://identifiers.org/clinvar/53706 ^@ NM_000492.3(CFTR):c.328delG (p.Asp110Thrfs) http://identifiers.org/clinvar/53756 ^@ NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro) http://identifiers.org/clinvar/53808 ^@ NM_000492.3(CFTR):c.376G>A (p.Gly126Ser) http://identifiers.org/clinvar/53861 ^@ NM_000492.3(CFTR):c.3956C>A (p.Ala1319Glu) http://identifiers.org/clinvar/53912 ^@ NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) http://identifiers.org/clinvar/53962 ^@ NM_000492.3(CFTR):c.476T>C (p.Leu159Ser) http://identifiers.org/clinvar/54012 ^@ NM_000492.3(CFTR):c.579+5G>A http://identifiers.org/clinvar/54062 ^@ NM_000492.3(CFTR):c.80G>A (p.Gly27Glu) http://identifiers.org/clinvar/54114 ^@ NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter) http://identifiers.org/clinvar/54164 ^@ NM_007294.3(BRCA1):c.1214C>A (p.Ser405Ter) http://identifiers.org/clinvar/54214 ^@ NM_007294.3(BRCA1):c.135-18T>G http://identifiers.org/clinvar/54264 ^@ NM_007294.3(BRCA1):c.1471C>T (p.Gln491Ter) http://identifiers.org/clinvar/54315 ^@ NM_007294.3(BRCA1):c.1636_1654del19 (p.Met546Valfs) http://identifiers.org/clinvar/242667 ^@ NM_001142864.3(PIEZO1):c.3350C>T (p.Ser1117Leu) http://identifiers.org/clinvar/56710 ^@ NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys) http://identifiers.org/clinvar/56760 ^@ NM_030943.3(AMN):c.761G>A (p.Gly254Glu) http://identifiers.org/clinvar/56843 ^@ NM_002163.2(IRF8):c.238A>G (p.Thr80Ala) http://identifiers.org/clinvar/57020 ^@ GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 http://identifiers.org/clinvar/57074 ^@ GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 http://identifiers.org/clinvar/57129 ^@ GRCh38/hg38 8q24.3(chr8:142201425-142550407)x1 http://identifiers.org/clinvar/57180 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 http://identifiers.org/clinvar/57232 ^@ GRCh38/hg38 9p23(chr9:10648009-11435662)x1 http://identifiers.org/clinvar/57286 ^@ GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1 http://identifiers.org/clinvar/57339 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 http://identifiers.org/clinvar/57391 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133558988)x3 http://identifiers.org/clinvar/101158 ^@ NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp) http://identifiers.org/clinvar/101208 ^@ NM_000090.3(COL3A1):c.1763_1769delGTGCTCCinsTAAG (p.Gly588_Pro590delinsValSer) http://identifiers.org/clinvar/101258 ^@ NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser) http://identifiers.org/clinvar/101308 ^@ NM_000090.3(COL3A1):c.1808delG (p.Gly603Alafs) http://identifiers.org/clinvar/101358 ^@ NM_000090.3(COL3A1):c.1149+1G>T (p.Gly351_Pro383del) http://identifiers.org/clinvar/101458 ^@ NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu) http://identifiers.org/clinvar/101514 ^@ NM_000339.2(SLC12A3):c.179C>T (p.Thr60Met) http://identifiers.org/clinvar/102471 ^@ NM_000277.1(PAH):c.1022A>C (p.Lys341Thr) http://identifiers.org/clinvar/102526 ^@ NM_000277.1(PAH):c.1101G>A (p.Leu367=) http://identifiers.org/clinvar/102997 ^@ NM_000246.3(CIITA):c.2356C>A (p.Gln786Lys) http://identifiers.org/clinvar/125976 ^@ NM_000059.3(BRCA2):c.-11C>T http://identifiers.org/clinvar/126035 ^@ NM_000059.3(BRCA2):c.4037_4043delCTGTTTGinsT (p.Thr1346_Cys1348delinsIle) http://identifiers.org/clinvar/126110 ^@ NM_000059.3(BRCA2):c.6591delT (p.Glu2198Lysfs) http://identifiers.org/clinvar/126169 ^@ NM_000059.3(BRCA2):c.8208_8209insAG (p.Leu2737Serfs) http://identifiers.org/clinvar/126235 ^@ NM_001080522.2(CC2D2A):c.2830-38G>T http://identifiers.org/clinvar/126285 ^@ NM_024809.4(TCTN2):c.1393+7C>T http://identifiers.org/clinvar/126336 ^@ NM_020732.3(ARID1B):c.5922C>T (p.Ile1974=) http://identifiers.org/clinvar/126392 ^@ NM_016381.5(TREX1):c.790_793dupCAGT (p.Trp265Serfs) http://identifiers.org/clinvar/126460 ^@ NM_181523.2(PIK3R1):c.1906_1907delAA (p.Asn636Profs) http://identifiers.org/clinvar/126522 ^@ NM_173849.2(GSC):c.196_212del17 (p.Gly66Argfs) http://identifiers.org/clinvar/126597 ^@ NM_024675.3(PALB2):c.1317G>A (p.Gly439=) http://identifiers.org/clinvar/126648 ^@ NM_024675.3(PALB2):c.2365C>T (p.Leu789=) http://identifiers.org/clinvar/126699 ^@ NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) http://identifiers.org/clinvar/126749 ^@ NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) http://identifiers.org/clinvar/126800 ^@ NM_000321.2(RB1):c.2227_2230dupTTGA (p.Lys745Aspfs) http://identifiers.org/clinvar/126853 ^@ NM_004996.3(ABCC1):c.1913-609G>A http://identifiers.org/clinvar/126910 ^@ NM_007194.3(CHEK2):c.1421G>A (p.Arg474His) http://identifiers.org/clinvar/126960 ^@ NM_000138.4(FBN1):c.385T>G (p.Cys129Gly) http://identifiers.org/clinvar/127010 ^@ NM_002485.4(NBN):c.1202C>G (p.Pro401Arg) http://identifiers.org/clinvar/127060 ^@ NM_001983.3(ERCC1):c.843+357C>T http://identifiers.org/clinvar/127118 ^@ NM_005051.2(QARS):c.1543C>T (p.Arg515Trp) http://identifiers.org/clinvar/127200 ^@ NM_207341.3(ZP1):c.1169_1176delTTTTCCCA (p.Ile390Thrfs) http://identifiers.org/clinvar/127284 ^@ NM_000038.5(APC):c.3088A>T (p.Lys1030Ter) http://identifiers.org/clinvar/127334 ^@ NM_000051.3(ATM):c.1235G>A (p.Trp412Ter) http://identifiers.org/clinvar/127384 ^@ NM_000051.3(ATM):c.4323A>G (p.Ile1441Met) http://identifiers.org/clinvar/127434 ^@ NM_000051.3(ATM):c.6998C>A (p.Thr2333Lys) http://identifiers.org/clinvar/160794 ^@ GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 http://identifiers.org/clinvar/160845 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/160897 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 http://identifiers.org/clinvar/178880 ^@ NM_001232.3(CASQ2):c.757C>A (p.Arg253Ser) http://identifiers.org/clinvar/166432 ^@ NM_206933.2(USH2A):c.12633T>G (p.Ile4211Met) http://identifiers.org/clinvar/178161 ^@ NM_133378.4(TTN):c.91701C>T (p.Tyr30567=) http://identifiers.org/clinvar/178661 ^@ NM_133378.4(TTN):c.90592G>T (p.Asp30198Tyr) http://identifiers.org/clinvar/178211 ^@ NM_001256850.1(TTN):c.40350C>T (p.Asn13450=) http://identifiers.org/clinvar/179130 ^@ NM_206933.2(USH2A):c.3584G>T (p.Cys1195Phe) http://identifiers.org/clinvar/165881 ^@ NM_133378.4(TTN):c.59740C>T (p.Arg19914Trp) http://identifiers.org/clinvar/178261 ^@ NM_133378.4(TTN):c.10360+4802T>C http://identifiers.org/clinvar/166063 ^@ NM_133378.4(TTN):c.34945G>A (p.Glu11649Lys) http://identifiers.org/clinvar/166221 ^@ NM_133378.4(TTN):c.11331A>C (p.Glu3777Asp) http://identifiers.org/clinvar/166273 ^@ NM_133379.4(TTN):c.12387G>A (p.Leu4129=) http://identifiers.org/clinvar/178511 ^@ NM_194248.2(OTOF):c.2498A>T (p.Gln833Leu) http://identifiers.org/clinvar/166323 ^@ NM_133378.4(TTN):c.3913G>T (p.Gly1305Trp) http://identifiers.org/clinvar/165378 ^@ NM_198253.2(TERT):c.2225G>A (p.Arg742His) http://identifiers.org/clinvar/179030 ^@ NM_198056.2(SCN5A):c.4282G>T (p.Ala1428Ser) http://identifiers.org/clinvar/178930 ^@ NM_004415.3(DSP):c.4172A>G (p.Tyr1391Cys) http://identifiers.org/clinvar/165163 ^@ NM_198056.2(SCN5A):c.44G>C (p.Arg15Thr) http://identifiers.org/clinvar/166612 ^@ NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) http://identifiers.org/clinvar/178729 ^@ NM_001277115.1(DNAH11):c.9102+8G>A http://identifiers.org/clinvar/198417 ^@ NM_033290.3(MID1):c.1266C>T (p.Thr422=) http://identifiers.org/clinvar/199033 ^@ NM_000532.4(PCCB):c.895G>T (p.Val299Phe) http://identifiers.org/clinvar/199138 ^@ NM_015404.3(WHRN):c.2112G>T (p.Leu704=) http://identifiers.org/clinvar/199189 ^@ NM_152778.2(MFSD8):c.863+4A>G http://identifiers.org/clinvar/199244 ^@ NM_033071.3(SYNE1):c.18219A>C (p.Ser6073=) http://identifiers.org/clinvar/200938 ^@ NM_170707.3(LMNA):c.646C>T (p.Arg216Cys) http://identifiers.org/clinvar/201242 ^@ NM_001035.2(RYR2):c.3950C>T (p.Thr1317Met) http://identifiers.org/clinvar/201295 ^@ NM_001035.2(RYR2):c.9518C>T (p.Thr3173Ile) http://identifiers.org/clinvar/201186 ^@ NM_001035.2(RYR2):c.12917T>C (p.Phe4306Ser) http://identifiers.org/clinvar/201353 ^@ NM_001035.2(RYR2):c.13890G>C (p.Trp4630Cys) http://identifiers.org/clinvar/199693 ^@ NM_000090.3(COL3A1):c.1234G>T (p.Ala412Ser) http://identifiers.org/clinvar/199747 ^@ NM_000090.3(COL3A1):c.4072C>T (p.Arg1358Ter) http://identifiers.org/clinvar/199913 ^@ NM_004415.3(DSP):c.47G>C (p.Arg16Pro) http://identifiers.org/clinvar/199854 ^@ NM_004415.3(DSP):c.852G>A (p.Met284Ile) http://identifiers.org/clinvar/200469 ^@ NM_000238.3(KCNH2):c.2576C>T (p.Thr859Ile) http://identifiers.org/clinvar/200612 ^@ NM_000238.3(KCNH2):c.735_754dup20 (p.Arg252Profs) http://identifiers.org/clinvar/200301 ^@ NM_000238.3(KCNH2):c.749C>A (p.Ser250Ter) http://identifiers.org/clinvar/200717 ^@ NM_000238.3(KCNH2):c.244_252dupATCGCGCAG (p.Gln84_Ala85insIleAlaGln) http://identifiers.org/clinvar/200876 ^@ NM_000218.2(KCNQ1):c.251C>G (p.Pro84Arg) http://identifiers.org/clinvar/200823 ^@ NM_000218.2(KCNQ1):c.827C>T (p.Ser276Phe) http://identifiers.org/clinvar/201006 ^@ NM_130799.2(MEN1):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/200195 ^@ NM_000138.4(FBN1):c.6499A>C (p.Thr2167Pro) http://identifiers.org/clinvar/200081 ^@ NM_000138.4(FBN1):c.6403G>A (p.Asp2135Asn) http://identifiers.org/clinvar/200026 ^@ NM_000138.4(FBN1):c.3839-1G>T http://identifiers.org/clinvar/199971 ^@ NM_000138.4(FBN1):c.1553G>T (p.Gly518Val) http://identifiers.org/clinvar/200141 ^@ NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) http://identifiers.org/clinvar/201119 ^@ NM_002474.2(MYH11):c.5787-4707C>T http://identifiers.org/clinvar/201066 ^@ NM_002474.2(MYH11):c.3563G>T (p.Arg1188Leu) http://identifiers.org/clinvar/199801 ^@ NM_001943.4(DSG2):c.2923delG (p.Val975Terfs) http://identifiers.org/clinvar/201856 ^@ NM_007078.2(LDB3):c.54G>T (p.Gln18His) http://identifiers.org/clinvar/203077 ^@ NM_001256850.1(TTN):c.99245G>T (p.Arg33082Ile) http://identifiers.org/clinvar/203027 ^@ NM_001256850.1(TTN):c.92512C>A (p.Arg30838Ser) http://identifiers.org/clinvar/202977 ^@ NM_001256850.1(TTN):c.86384G>A (p.Arg28795Gln) http://identifiers.org/clinvar/202927 ^@ NM_001256850.1(TTN):c.80149A>T (p.Met26717Leu) http://identifiers.org/clinvar/232555 ^@ NM_005732.3(RAD50):c.154delA (p.Ile52Phefs) http://identifiers.org/clinvar/232055 ^@ NM_005732.3(RAD50):c.565T>G (p.Leu189Val) http://identifiers.org/clinvar/233445 ^@ NM_005732.3(RAD50):c.3618+3A>G http://identifiers.org/clinvar/231455 ^@ NM_000535.6(PMS2):c.1520G>A (p.Ser507Asn) http://identifiers.org/clinvar/233948 ^@ NM_002485.4(NBN):c.1509T>C (p.Asn503=) http://identifiers.org/clinvar/232505 ^@ NM_020975.4(RET):c.1266C>T (p.Ile422=) http://identifiers.org/clinvar/231805 ^@ NM_000314.6(PTEN):c.534T>C (p.Tyr178=) http://identifiers.org/clinvar/232455 ^@ NM_000051.3(ATM):c.2805G>A (p.Thr935=) http://identifiers.org/clinvar/234248 ^@ NM_000051.3(ATM):c.4092C>A (p.Asp1364Glu) http://identifiers.org/clinvar/232105 ^@ NM_000051.3(ATM):c.4297T>G (p.Tyr1433Asp) http://identifiers.org/clinvar/234198 ^@ NM_000051.3(ATM):c.4997_4999delAAG (p.Glu1666del) http://identifiers.org/clinvar/232005 ^@ NM_000051.3(ATM):c.5763-2A>C http://identifiers.org/clinvar/231855 ^@ NM_005591.3(MRE11):c.336A>G (p.Gln112=) http://identifiers.org/clinvar/233595 ^@ NM_005591.3(MRE11):c.33C>A (p.Asn11Lys) http://identifiers.org/clinvar/232205 ^@ NM_000059.3(BRCA2):c.4300A>G (p.Lys1434Glu) http://identifiers.org/clinvar/231605 ^@ NM_000059.3(BRCA2):c.4848A>G (p.Leu1616=) http://identifiers.org/clinvar/234098 ^@ NM_000059.3(BRCA2):c.8798G>C (p.Arg2933Thr) http://identifiers.org/clinvar/231955 ^@ NM_000059.3(BRCA2):c.8950T>A (p.Ser2984Thr) http://identifiers.org/clinvar/233998 ^@ NM_000059.3(BRCA2):c.9090A>C (p.Thr3030=) http://identifiers.org/clinvar/233695 ^@ NM_024675.3(PALB2):c.2167A>G (p.Met723Val) http://identifiers.org/clinvar/230466 ^@ NM_004360.4(CDH1):c.1570C>T (p.Arg524Trp) http://identifiers.org/clinvar/229666 ^@ NM_001042492.2(NF1):c.6676C>T (p.Leu2226=) http://identifiers.org/clinvar/231655 ^@ NM_001042492.2(NF1):c.8238T>G (p.Ile2746Met) http://identifiers.org/clinvar/232305 ^@ NM_002878.3(RAD51D):c.407A>G (p.Asp136Gly) http://identifiers.org/clinvar/232606 ^@ NM_007294.3(BRCA1):c.5202delT (p.Phe1734Leufs) http://identifiers.org/clinvar/231705 ^@ NM_007294.3(BRCA1):c.4400_4418del19insTTT (p.Gln1467Leufs) http://identifiers.org/clinvar/234148 ^@ NM_007294.3(BRCA1):c.3710T>C (p.Ile1237Thr) http://identifiers.org/clinvar/229966 ^@ NM_007294.3(BRCA1):c.2095G>C (p.Glu699Gln) http://identifiers.org/clinvar/231505 ^@ NM_007294.3(BRCA1):c.1768_1770delAGTinsC (p.Ser590Hisfs) http://identifiers.org/clinvar/232405 ^@ NM_007294.3(BRCA1):c.1654G>A (p.Gly552Ser) http://identifiers.org/clinvar/234048 ^@ NM_058216.2(RAD51C):c.438A>G (p.Glu146=) http://identifiers.org/clinvar/233898 ^@ NM_058216.2(RAD51C):c.838G>A (p.Val280Ile) http://identifiers.org/clinvar/229916 ^@ NM_032043.2(BRIP1):c.1676C>G (p.Thr559Arg) http://identifiers.org/clinvar/233545 ^@ NM_032043.2(BRIP1):c.1512C>G (p.Ile504Met) http://identifiers.org/clinvar/233747 ^@ NM_032043.2(BRIP1):c.46delT (p.Tyr16Thrfs) http://identifiers.org/clinvar/232155 ^@ NM_007194.3(CHEK2):c.707T>A (p.Leu236Gln) http://identifiers.org/clinvar/232706 ^@ NM_007194.3(CHEK2):c.59A>G (p.Gln20Arg) http://identifiers.org/clinvar/234936 ^@ NM_022080.2(NAPB):c.479C>A (p.Ser160Ter) http://identifiers.org/clinvar/235262 ^@ NM_003193.4(TBCE):c.998G>C (p.Ser333Thr) http://identifiers.org/clinvar/235316 ^@ NM_025074.6(FRAS1):c.10948C>T (p.Gln3650Ter) http://identifiers.org/clinvar/235368 ^@ NM_017890.4(VPS13B):c.6932A>G (p.Gln2311Arg) http://identifiers.org/clinvar/240945 ^@ NM_014874.3(MFN2):c.1946G>A (p.Arg649His) http://identifiers.org/clinvar/238301 ^@ NM_001103.3(ACTN2):c.2631_2632delTG (p.Ala878Thrfs) http://identifiers.org/clinvar/238201 ^@ NM_000975.3(RPL11):c.258T>G (p.Gly86=) http://identifiers.org/clinvar/238351 ^@ NM_001128425.1(MUTYH):c.670G>A (p.Ala224Thr) http://identifiers.org/clinvar/238601 ^@ NM_001165963.1(SCN1A):c.2861A>T (p.Glu954Val) http://identifiers.org/clinvar/238701 ^@ NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val) http://identifiers.org/clinvar/238851 ^@ NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys) http://identifiers.org/clinvar/238801 ^@ NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr) http://identifiers.org/clinvar/238751 ^@ NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) http://identifiers.org/clinvar/239844 ^@ NM_004304.4(ALK):c.4785C>T (p.Ala1595=) http://identifiers.org/clinvar/239794 ^@ NM_004304.4(ALK):c.1234C>T (p.Arg412Cys) http://identifiers.org/clinvar/240995 ^@ NM_015120.4(ALMS1):c.4207A>G (p.Thr1403Ala) http://identifiers.org/clinvar/238101 ^@ NM_000551.3(VHL):c.150C>A (p.Ala50=) http://identifiers.org/clinvar/240044 ^@ NM_004656.3(BAP1):c.1250+7C>G http://identifiers.org/clinvar/240345 ^@ NM_006206.4(PDGFRA):c.318G>A (p.Gln106=) http://identifiers.org/clinvar/240295 ^@ NM_006206.4(PDGFRA):c.1113G>A (p.Gln371=) http://identifiers.org/clinvar/240245 ^@ NM_005732.3(RAD50):c.978T>C (p.His326=) http://identifiers.org/clinvar/238651 ^@ NM_001206927.1(DNAH8):c.5127C>T (p.Leu1709=) http://identifiers.org/clinvar/240845 ^@ NM_012123.3(MTO1):c.1051A>G (p.Met351Val) http://identifiers.org/clinvar/241395 ^@ NM_021930.5(RINT1):c.1334-5_1335delinsTCA http://identifiers.org/clinvar/241095 ^@ NM_016203.3(PRKAG2):c.361A>G (p.Met121Val) http://identifiers.org/clinvar/238901 ^@ NM_001277115.1(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA (p.Lys4501Argfs) http://identifiers.org/clinvar/237901 ^@ NM_000535.6(PMS2):c.2202T>C (p.Val734=) http://identifiers.org/clinvar/262783 ^@ NM_153717.2(EVC):c.802-5_802-3delTTC http://identifiers.org/clinvar/258054 ^@ NM_001369.2(DNAH5):c.6688-48C>T http://identifiers.org/clinvar/258004 ^@ NM_001369.2(DNAH5):c.1644+12A>G http://identifiers.org/clinvar/260044 ^@ NM_006846.3(SPINK5):c.1302+19G>A http://identifiers.org/clinvar/261594 ^@ NM_022455.4(NSD1):c.7161G>A (p.Pro2387=) http://identifiers.org/clinvar/263033 ^@ NM_182925.4(FLT4):c.2168-28A>G http://identifiers.org/clinvar/260444 ^@ NM_014845.5(FIG4):c.*14C>T http://identifiers.org/clinvar/260844 ^@ NM_017651.4(AHI1):c.2373+18A>G http://identifiers.org/clinvar/259104 ^@ NM_003630.2(PEX3):c.-4A>G http://identifiers.org/clinvar/261094 ^@ NM_019105.6(TNXB):c.10194G>A (p.Pro3398=) http://identifiers.org/clinvar/261144 ^@ NM_019105.6(TNXB):c.6030C>T (p.Pro2010=) http://identifiers.org/clinvar/258354 ^@ NM_001851.4(COL9A1):c.2034+19T>C http://identifiers.org/clinvar/260494 ^@ NM_014989.5(RIMS1):c.1776G>A (p.Glu592=) http://identifiers.org/clinvar/258154 ^@ NM_001458.4(FLNC):c.850+18G>A http://identifiers.org/clinvar/259894 ^@ NM_005989.3(AKR1D1):c.856-10G>A http://identifiers.org/clinvar/260694 ^@ NM_016203.3(PRKAG2):c.1052-42C>T http://identifiers.org/clinvar/257904 ^@ NM_001277115.1(DNAH11):c.5329-19A>C http://identifiers.org/clinvar/257854 ^@ NM_001277115.1(DNAH11):c.11497-16C>G http://identifiers.org/clinvar/263133 ^@ NM_198488.3(FAM83H):c.1827C>T (p.Tyr609=) http://identifiers.org/clinvar/260894 ^@ NM_017780.3(CHD7):c.2376+43_2376+48dupTGGACT http://identifiers.org/clinvar/260144 ^@ NM_007171.3(POMT1):c.1892-40G>A http://identifiers.org/clinvar/260194 ^@ NM_012144.3(DNAI1):c.1019+42C>T http://identifiers.org/clinvar/260994 ^@ NM_018076.4(ARMC4):c.2058T>C (p.Asn686=) http://identifiers.org/clinvar/258804 ^@ NM_002778.3(PSAP):c.-10A>G http://identifiers.org/clinvar/260244 ^@ NM_012330.3(KAT6B):c.4097_4105dupAAGAGGAAG (p.Glu1368_Gly1369insGluGluGlu) http://identifiers.org/clinvar/259944 ^@ NM_006204.3(PDE6C):c.203C>T (p.Thr68Ile) http://identifiers.org/clinvar/262683 ^@ NM_152722.4(HEPACAM):c.971A>G (p.Asn324Ser) http://identifiers.org/clinvar/260794 ^@ NM_016952.4(CDON):c.349+39dupT http://identifiers.org/clinvar/262733 ^@ NM_153676.3(USH1C):c.2656-47C>T http://identifiers.org/clinvar/262983 ^@ NM_181507.1(HPS5):c.1511-30G>A http://identifiers.org/clinvar/258554 ^@ NM_002180.2(IGHMBP2):c.*22C>T http://identifiers.org/clinvar/258204 ^@ NM_001843.3(CNTN1):c.90T>C (p.His30=) http://identifiers.org/clinvar/259054 ^@ NM_003482.3(KMT2D):c.15540G>C (p.Val5180=) http://identifiers.org/clinvar/258254 ^@ NM_001845.5(COL4A1):c.432T>A (p.Ala144=) http://identifiers.org/clinvar/260394 ^@ NM_014363.5(SACS):c.1839G>A (p.Gln613=) http://identifiers.org/clinvar/260294 ^@ NM_013382.5(POMT2):c.1577-8delT http://identifiers.org/clinvar/335680 ^@ NM_004304.4(ALK):c.*111C>T http://identifiers.org/clinvar/332939 ^@ NM_133378.4(TTN):c.10115-6T>C http://identifiers.org/clinvar/336080 ^@ NM_022437.2(ABCG8):c.1412-8C>T http://identifiers.org/clinvar/335380 ^@ NM_000182.4(HADHA):c.1655C>T (p.Ala552Val) http://identifiers.org/clinvar/332989 ^@ NM_201548.4(CERKL):c.*780T>C http://identifiers.org/clinvar/333489 ^@ NM_032977.3(CASP10):c.*3071G>A http://identifiers.org/clinvar/335530 ^@ NM_015636.3(EIF2B4):c.*39C>T http://identifiers.org/clinvar/336280 ^@ NM_001430.4(EPAS1):c.2474G>A (p.Arg825Gln) http://identifiers.org/clinvar/336387 ^@ NM_139279.5(MCFD2):c.-90_-89delCG http://identifiers.org/clinvar/335630 ^@ NM_001029883.2(C2orf71):c.*291G>C http://identifiers.org/clinvar/333689 ^@ NM_001204.6(BMPR2):c.*3354G>T http://identifiers.org/clinvar/336687 ^@ NM_002618.3(PEX13):c.*1194G>A http://identifiers.org/clinvar/335930 ^@ NM_000104.3(CYP1B1):c.*1079C>G http://identifiers.org/clinvar/333589 ^@ NM_020919.3(ALS2):c.3930C>A (p.Gly1310=) http://identifiers.org/clinvar/336180 ^@ NM_133259.3(LRPPRC):c.-19C>G http://identifiers.org/clinvar/334090 ^@ NM_000384.2(APOB):c.11855G>A (p.Arg3952His) http://identifiers.org/clinvar/334140 ^@ NM_000384.2(APOB):c.4900G>A (p.Asp1634Asn) http://identifiers.org/clinvar/333939 ^@ NM_015040.3(PIKFYVE):c.5727G>T (p.Ala1909=) http://identifiers.org/clinvar/336537 ^@ NM_001135659.2(NRXN1):c.*383A>G http://identifiers.org/clinvar/334341 ^@ NM_015488.4(PNKD):c.*838C>T http://identifiers.org/clinvar/334190 ^@ NM_000384.2(APOB):c.83-11C>T http://identifiers.org/clinvar/334391 ^@ NM_025216.2(WNT10A):c.-149G>T http://identifiers.org/clinvar/334441 ^@ NM_002181.3(IHH):c.717C>T (p.Thr239=) http://identifiers.org/clinvar/336787 ^@ NM_002056.3(GFPT1):c.*5673C>T http://identifiers.org/clinvar/337637 ^@ NM_001079.3(ZAP70):c.1645A>G (p.Met549Val) http://identifiers.org/clinvar/336837 ^@ NM_002056.3(GFPT1):c.*2364C>T http://identifiers.org/clinvar/336987 ^@ NM_003124.4(SPR):c.-7C>G http://identifiers.org/clinvar/334591 ^@ NM_003590.4(CUL3):c.*2854A>G http://identifiers.org/clinvar/334491 ^@ NM_015311.2(OBSL1):c.3852C>T (p.Gly1284=) http://identifiers.org/clinvar/334541 ^@ NM_015311.2(OBSL1):c.-43_-42delCT http://identifiers.org/clinvar/342627 ^@ NM_020754.3(ARHGAP31):c.203+6C>T http://identifiers.org/clinvar/334691 ^@ NM_000092.4(COL4A4):c.*569C>A http://identifiers.org/clinvar/342877 ^@ NM_053025.3(MYLK):c.4054T>C (p.Trp1352Arg) http://identifiers.org/clinvar/337587 ^@ NM_020184.3(CNNM4):c.1614G>T (p.Ala538=) http://identifiers.org/clinvar/342327 ^@ NM_016247.3(IMPG2):c.*368G>A http://identifiers.org/clinvar/342427 ^@ NM_000551.3(VHL):c.*1172C>T http://identifiers.org/clinvar/342477 ^@ NM_000551.3(VHL):c.*2571A>G http://identifiers.org/clinvar/335580 ^@ NM_001029883.2(C2orf71):c.*2579C>A http://identifiers.org/clinvar/343427 ^@ NM_001063.3(TF):c.216+14G>C http://identifiers.org/clinvar/343477 ^@ NM_000532.4(PCCB):c.1421A>G (p.Lys474Arg) http://identifiers.org/clinvar/335330 ^@ NM_152783.4(D2HGDH):c.*171G>A http://identifiers.org/clinvar/342777 ^@ NM_001023570.3(IQCB1):c.877-11C>T http://identifiers.org/clinvar/335480 ^@ NM_000221.2(KHK):c.-97G>A http://identifiers.org/clinvar/342927 ^@ NM_000373.3(UMPS):c.21T>C (p.Ala7=) http://identifiers.org/clinvar/335880 ^@ NM_014946.3(SPAST):c.*2322T>G http://identifiers.org/clinvar/335730 ^@ NM_004304.4(ALK):c.-624C>G http://identifiers.org/clinvar/335780 ^@ NM_000379.3(XDH):c.1856+7G>A http://identifiers.org/clinvar/357322 ^@ NM_003221.3(TFAP2B):c.*1938dupG http://identifiers.org/clinvar/357372 ^@ NM_138694.3(PKHD1):c.*2304_*2305insA http://identifiers.org/clinvar/354482 ^@ NM_004385.4(VCAN):c.*898_*905delAAAAAAAAinsG http://identifiers.org/clinvar/354782 ^@ NM_001242957.2(MAK):c.*34C>T http://identifiers.org/clinvar/357822 ^@ NM_014989.5(RIMS1):c.-249C>G http://identifiers.org/clinvar/358022 ^@ NM_004999.3(MYO6):c.*1785A>C http://identifiers.org/clinvar/358172 ^@ NM_183050.3(BCKDHB):c.1031C>T (p.Thr344Ile) http://identifiers.org/clinvar/355183 ^@ NM_000165.4(GJA1):c.*1043T>C http://identifiers.org/clinvar/351285 ^@ NM_005219.4(DIAPH1):c.*16C>T http://identifiers.org/clinvar/355533 ^@ NM_000288.3(PEX7):c.737G>A (p.Arg246Lys) http://identifiers.org/clinvar/355733 ^@ NM_203395.2(IYD):c.*2272C>T http://identifiers.org/clinvar/355833 ^@ NM_033071.3(SYNE1):c.21301A>G (p.Asn7101Asp) http://identifiers.org/clinvar/359411 ^@ NM_022458.3(LMBR1):c.*305G>A http://identifiers.org/clinvar/359461 ^@ NM_058246.3(DNAJB6):c.*289C>T http://identifiers.org/clinvar/352043 ^@ NM_000112.3(SLC26A2):c.*896A>G http://identifiers.org/clinvar/352393 ^@ NM_000337.5(SGCD):c.*4608G>A http://identifiers.org/clinvar/352493 ^@ NM_005546.3(ITK):c.*1350G>A http://identifiers.org/clinvar/352643 ^@ NM_000816.3(GABRG2):c.1310G>A (p.Arg437His) http://identifiers.org/clinvar/360261 ^@ NM_000168.5(GLI3):c.280C>T (p.Leu94=) http://identifiers.org/clinvar/352593 ^@ NM_000806.5(GABRA1):c.-111_-106dupGACTCG http://identifiers.org/clinvar/360361 ^@ NM_014855.2(AP5Z1):c.*754G>A http://identifiers.org/clinvar/360461 ^@ NM_005228.4(EGFR):c.1839C>T (p.Ala613=) http://identifiers.org/clinvar/360561 ^@ NM_000181.3(GUSB):c.-50C>T http://identifiers.org/clinvar/360611 ^@ NM_153033.4(KCTD7):c.*1911C>G http://identifiers.org/clinvar/353043 ^@ NM_014244.4(ADAMTS2):c.*2595C>T http://identifiers.org/clinvar/352893 ^@ NM_022455.4(NSD1):c.7575C>T (p.Asp2525=) http://identifiers.org/clinvar/353093 ^@ NM_014244.4(ADAMTS2):c.2914C>T (p.Arg972Cys) http://identifiers.org/clinvar/353143 ^@ NM_014244.4(ADAMTS2):c.321T>C (p.Ser107=) http://identifiers.org/clinvar/353193 ^@ NM_004553.4(NDUFS6):c.310-15T>C http://identifiers.org/clinvar/357422 ^@ NM_138694.3(PKHD1):c.8677C>G (p.His2893Asp) http://identifiers.org/clinvar/360961 ^@ NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) http://identifiers.org/clinvar/357522 ^@ NM_018100.3(EFHC1):c.*2211C>T http://identifiers.org/clinvar/353443 ^@ NM_023073.3(C5orf42):c.6443A>G (p.Asn2148Ser) http://identifiers.org/clinvar/353243 ^@ NM_014324.5(AMACR):c.*714T>C http://identifiers.org/clinvar/357772 ^@ NM_018368.3(LMBRD1):c.980+11T>C http://identifiers.org/clinvar/353343 ^@ NM_004172.4(SLC1A3):c.*981G>A http://identifiers.org/clinvar/353693 ^@ NM_000163.4(GHR):c.*300G>A http://identifiers.org/clinvar/353393 ^@ NM_133433.3(NIPBL):c.*282_*285delACAA http://identifiers.org/clinvar/357972 ^@ NM_004415.3(DSP):c.*137T>C http://identifiers.org/clinvar/353743 ^@ NM_002203.3(ITGA2):c.789T>C (p.Ala263=) http://identifiers.org/clinvar/306216 ^@ NM_024079.4(ALG8):c.898G>A (p.Gly300Ser) http://identifiers.org/clinvar/307356 ^@ NM_005996.3(TBX3):c.1899C>T (p.Ser633=) http://identifiers.org/clinvar/300652 ^@ NM_004273.4(CHST3):c.*3571T>C http://identifiers.org/clinvar/300902 ^@ NM_012330.3(KAT6B):c.*45T>C http://identifiers.org/clinvar/301002 ^@ NM_007055.3(POLR3A):c.*1680C>G http://identifiers.org/clinvar/301152 ^@ NM_000429.2(MAT1A):c.*1924C>T http://identifiers.org/clinvar/301102 ^@ NM_001002295.1(GATA3):c.-370+28dupT http://identifiers.org/clinvar/308306 ^@ NM_139241.3(FGD4):c.*762G>T http://identifiers.org/clinvar/365309 ^@ NM_015046.5(SETX):c.*2002A>G http://identifiers.org/clinvar/365359 ^@ NM_015046.5(SETX):c.3310C>G (p.Gln1104Glu) http://identifiers.org/clinvar/365409 ^@ NM_000368.4(TSC1):c.*3924G>T http://identifiers.org/clinvar/365559 ^@ NM_139025.4(ADAMTS13):c.3044+8A>C http://identifiers.org/clinvar/365159 ^@ NM_001130438.2(SPTAN1):c.1806+15G>T http://identifiers.org/clinvar/301552 ^@ NM_000235.3(LIPA):c.*991T>G http://identifiers.org/clinvar/301752 ^@ NM_002860.3(ALDH18A1):c.*202T>C http://identifiers.org/clinvar/309345 ^@ NM_014191.3(SCN8A):c.-157A>G http://identifiers.org/clinvar/366360 ^@ NM_003383.4(VLDLR):c.449-12C>T http://identifiers.org/clinvar/365960 ^@ NM_016219.4(MAN1B1):c.1110C>G (p.Ser370=) http://identifiers.org/clinvar/309895 ^@ NM_005379.3(MYO1A):c.3095A>C (p.Lys1032Thr) http://identifiers.org/clinvar/366210 ^@ NM_003070.4(SMARCA2):c.1962G>A (p.Gln654=) http://identifiers.org/clinvar/366310 ^@ NM_002451.3(MTAP):c.*3307G>T http://identifiers.org/clinvar/310650 ^@ NM_001920.4(DCN):c.*51A>G http://identifiers.org/clinvar/310700 ^@ NM_002108.3(HAL):c.*132C>T http://identifiers.org/clinvar/310850 ^@ NM_000282.3(PCCA):c.2040+11dupT http://identifiers.org/clinvar/312739 ^@ NM_000270.3(PNP):c.*274C>T http://identifiers.org/clinvar/340638 ^@ NM_014339.6(IL17RA):c.*1113C>G http://identifiers.org/clinvar/312789 ^@ NM_020366.3(RPGRIP1):c.1401A>G (p.Gln467=) http://identifiers.org/clinvar/312989 ^@ NM_000359.2(TGM1):c.361C>T (p.Arg121Cys) http://identifiers.org/clinvar/322413 ^@ NM_003593.2(FOXN1):c.159C>T (p.Ser53=) http://identifiers.org/clinvar/322713 ^@ NM_145068.3(TRPV3):c.*1621delC http://identifiers.org/clinvar/322763 ^@ NM_145068.3(TRPV3):c.1659G>A (p.Leu553=) http://identifiers.org/clinvar/341627 ^@ NM_003560.2(PLA2G6):c.*541C>T http://identifiers.org/clinvar/341777 ^@ NM_001429.3(EP300):c.444G>C (p.Thr148=) http://identifiers.org/clinvar/323113 ^@ NM_000226.3(KRT9):c.1839C>T (p.Tyr613=) http://identifiers.org/clinvar/341977 ^@ NM_006953.3(UPK3A):c.460G>C (p.Ala154Pro) http://identifiers.org/clinvar/342077 ^@ NM_015166.3(MLC1):c.*1773G>C http://identifiers.org/clinvar/367728 ^@ NM_080632.2(UPF3B):c.*206A>G http://identifiers.org/clinvar/323563 ^@ NM_000419.4(ITGA2B):c.799+15C>T http://identifiers.org/clinvar/367928 ^@ NM_004840.2(ARHGEF6):c.*1028A>G http://identifiers.org/clinvar/368028 ^@ NM_001018113.2(FANCB):c.952-13C>T http://identifiers.org/clinvar/323913 ^@ NM_018129.3(PNPO):c.*200C>T http://identifiers.org/clinvar/368378 ^@ NM_153380.3(ZNF41):c.73-7G>A http://identifiers.org/clinvar/368628 ^@ NM_000166.5(GJB1):c.*117C>T http://identifiers.org/clinvar/324911 ^@ NM_000346.3(SOX9):c.372G>C (p.Ala124=) http://identifiers.org/clinvar/325211 ^@ NM_001005731.2(ITGB4):c.4882G>A (p.Glu1628Lys) http://identifiers.org/clinvar/317628 ^@ NM_000875.4(IGF1R):c.*6028A>T http://identifiers.org/clinvar/317728 ^@ NM_000246.3(CIITA):c.*103T>C http://identifiers.org/clinvar/318028 ^@ NM_001143979.1(NDE1):c.-398A>C http://identifiers.org/clinvar/372083 ^@ NM_020975.4(RET):c.73+9278G>A http://identifiers.org/clinvar/372033 ^@ NM_000314.6(PTEN):c.210-26A>G http://identifiers.org/clinvar/371933 ^@ NM_001256849.1(POLD1):c.3218+10A>G http://identifiers.org/clinvar/372140 ^@ NM_001309443.1(SPARC):c.494G>A (p.Arg165His) http://identifiers.org/clinvar/372207 ^@ NM_014339.6(IL17RA):c.268delC (p.Leu90Cysfs) http://identifiers.org/clinvar/372266 ^@ NM_001098802.1(CEP78):c.499+1G>T http://identifiers.org/clinvar/373628 ^@ NM_000702.3(ATP1A2):c.1097G>C (p.Gly366Ala) http://identifiers.org/clinvar/372369 ^@ NM_024009.2(GJB3):c.379_387delCTGTGGTGGinsTTCTTGGA (p.Leu127Phefs) http://identifiers.org/clinvar/373478 ^@ NM_001349.3(DARS):c.944A>G (p.Lys315Arg) http://identifiers.org/clinvar/373778 ^@ NM_001001430.2(TNNT2):c.637G>C (p.Ala213Pro) http://identifiers.org/clinvar/373328 ^@ NM_001271208.1(NEB):c.4720-2A>G http://identifiers.org/clinvar/373128 ^@ NM_000521.3(HEXB):c.274_277dupACCC (p.Leu93Hisfs) http://identifiers.org/clinvar/373428 ^@ NM_178014.3(TUBB):c.322G>A (p.Glu108Lys) http://identifiers.org/clinvar/373678 ^@ NM_000027.3(AGA):c.508-2A>G http://identifiers.org/clinvar/373078 ^@ NM_015570.3(AUTS2):c.1298delT (p.Leu433Profs) http://identifiers.org/clinvar/373178 ^@ NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) http://identifiers.org/clinvar/373228 ^@ NM_001197104.1(KMT2A):c.5287C>T (p.Arg1763Trp) http://identifiers.org/clinvar/373578 ^@ NM_015531.5(C2CD3):c.5404T>C (p.Tyr1802His) http://identifiers.org/clinvar/372420 ^@ NM_000256.3(MYBPC3):c.1486G>C (p.Glu496Gln) http://identifiers.org/clinvar/372319 ^@ NM_025114.3(CEP290):c.7394_7395delAG (p.Glu2465Valfs) http://identifiers.org/clinvar/373728 ^@ NM_031226.2(CYP19A1):c.230A>G (p.Tyr77Cys) http://identifiers.org/clinvar/372475 ^@ NM_002734.4(PRKAR1A):c.951delA (p.Arg317Serfs) http://identifiers.org/clinvar/373278 ^@ NM_000548.4(TSC2):c.2868delC (p.Leu957Terfs) http://identifiers.org/clinvar/373528 ^@ NM_000100.3(CSTB):c.167A>G (p.Lys56Arg) http://identifiers.org/clinvar/373378 ^@ NM_004458.2(ACSL4):c.1187G>A (p.Arg396His) http://identifiers.org/clinvar/373828 ^@ NM_000059.3(BRCA2):c.1370A>G (p.Lys457Arg) http://identifiers.org/clinvar/373878 ^@ NG_005905.2:g.(?_92501)_(168862_170280)dup http://identifiers.org/clinvar/374181 ^@ NM_006516.2(SLC2A1):c.400G>A (p.Gly134Ser) http://identifiers.org/clinvar/374131 ^@ NM_000083.2(CLCN1):c.2635C>T (p.Gln879Ter) http://identifiers.org/clinvar/373931 ^@ NM_000462.3(UBE3A):c.2513_2525dupCTACATCTCATAC (p.Cys843Tyrfs) http://identifiers.org/clinvar/374081 ^@ NM_000138.4(FBN1):c.8016T>G (p.Cys2672Trp) http://identifiers.org/clinvar/373981 ^@ NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile) http://identifiers.org/clinvar/374031 ^@ NM_001243226.2(TCF4):c.2025_2028dupCAAT (p.Ala677Glnfs) http://identifiers.org/clinvar/374235 ^@ NM_015080.3(NRXN2):c.551T>G (p.Leu184Arg) http://identifiers.org/clinvar/374305 ^@ NM_004826.3(ECEL1):c.1470G>A (p.Trp490Ter) http://identifiers.org/clinvar/374370 ^@ NC_000017.10:g.(29111368_?)_(?_30183819)dup http://identifiers.org/clinvar/374423 ^@ NM_006392.3(NOP56):c.1364C>T (p.Ala455Val) http://identifiers.org/clinvar/374473 ^@ NM_002972.3(SBF1):c.5434G>C (p.Asp1812His) http://identifiers.org/clinvar/374950 ^@ NM_001081560.2(DMPK):c.1309G>A (p.Val437Met) http://identifiers.org/clinvar/375220 ^@ NM_001123385.1(BCOR):c.(3502+1_3503-1)_(4173+1_4174-1)del http://identifiers.org/clinvar/386079 ^@ NM_014362.3(HIBCH):c.-11A>G http://identifiers.org/clinvar/383187 ^@ NM_004366.5(CLCN2):c.1327-5T>C http://identifiers.org/clinvar/380042 ^@ NM_007208.3(MRPL3):c.816+12A>C http://identifiers.org/clinvar/385929 ^@ NM_033337.2(CAV3):c.*6G>A http://identifiers.org/clinvar/383789 ^@ NM_022154.5(SLC39A8):c.978C>A (p.Cys326Ter) http://identifiers.org/clinvar/379791 ^@ NM_000251.2(MSH2):c.2027C>G (p.Ser676Ter) http://identifiers.org/clinvar/378144 ^@ NM_000249.3(MLH1):c.1908G>A (p.Leu636=) http://identifiers.org/clinvar/383388 ^@ NM_000249.3(MLH1):c.1989+17A>C http://identifiers.org/clinvar/378550 ^@ NM_198056.2(SCN5A):c.4788C>T (p.Phe1596=) http://identifiers.org/clinvar/388568 ^@ NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp) http://identifiers.org/clinvar/378294 ^@ NM_001135659.2(NRXN1):c.3150A>G (p.Thr1050=) http://identifiers.org/clinvar/379741 ^@ NM_182896.2(ARL13B):c.690-5G>A http://identifiers.org/clinvar/379341 ^@ NM_001148.4(ANK2):c.8240G>A (p.Arg2747His) http://identifiers.org/clinvar/388618 ^@ NM_001999.3(FBN2):c.2802G>A (p.Arg934=) http://identifiers.org/clinvar/386179 ^@ NM_001080522.2(CC2D2A):c.2829+9C>T http://identifiers.org/clinvar/391357 ^@ NM_005859.4(PURA):c.704T>G (p.Val235Gly) http://identifiers.org/clinvar/389268 ^@ NM_000038.5(APC):c.894C>T (p.His298=) http://identifiers.org/clinvar/379992 ^@ NM_015929.3(LIPT1):c.711T>C (p.Ala237=) http://identifiers.org/clinvar/383839 ^@ NM_001999.3(FBN2):c.7960+13T>G http://identifiers.org/clinvar/389118 ^@ NM_033071.3(SYNE1):c.7378T>C (p.Leu2460=) http://identifiers.org/clinvar/380593 ^@ NM_052859.3(RFT1):c.826+7T>C http://identifiers.org/clinvar/378344 ^@ NM_000925.3(PDHB):c.42+16C>T http://identifiers.org/clinvar/389418 ^@ NM_018475.4(TMEM165):c.603T>C (p.Asp201=) http://identifiers.org/clinvar/379541 ^@ NM_001753.4(CAV1):c.30+14G>T http://identifiers.org/clinvar/386629 ^@ NM_004415.3(DSP):c.2991A>C (p.Ala997=) http://identifiers.org/clinvar/388118 ^@ NM_153704.5(TMEM67):c.1288+15C>T http://identifiers.org/clinvar/384039 ^@ NM_000290.3(PGAM2):c.-46A>G http://identifiers.org/clinvar/389068 ^@ NM_000445.4(PLEC):c.6591T>C (p.His2197=) http://identifiers.org/clinvar/383989 ^@ NM_000445.4(PLEC):c.5928A>G (p.Gly1976=) http://identifiers.org/clinvar/378650 ^@ NM_001130438.2(SPTAN1):c.1092A>G (p.Gln364=) http://identifiers.org/clinvar/386679 ^@ NM_001130438.2(SPTAN1):c.1338C>T (p.Ser446=) http://identifiers.org/clinvar/379691 ^@ NM_001130438.2(SPTAN1):c.1953T>C (p.Ala651=) http://identifiers.org/clinvar/390557 ^@ NM_014908.3(DOLK):c.1467G>T (p.Leu489=) http://identifiers.org/clinvar/382987 ^@ NM_013391.3(DMGDH):c.678A>G (p.Ser226=) http://identifiers.org/clinvar/385679 ^@ NM_017866.5(TMEM70):c.588C>T (p.His196=) http://identifiers.org/clinvar/382286 ^@ NM_000093.4(COL5A1):c.2181C>A (p.Gly727=) http://identifiers.org/clinvar/391057 ^@ NM_017617.4(NOTCH1):c.2427C>T (p.Asp809=) http://identifiers.org/clinvar/383438 ^@ NM_032634.3(PIGO):c.2025G>A (p.Ala675=) http://identifiers.org/clinvar/380493 ^@ NM_016035.4(COQ4):c.483G>C (p.Glu161Asp) http://identifiers.org/clinvar/387668 ^@ NM_020822.2(KCNT1):c.2184G>C (p.Leu728=) http://identifiers.org/clinvar/386479 ^@ NM_020822.2(KCNT1):c.3587+20T>G http://identifiers.org/clinvar/133021 ^@ NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) http://identifiers.org/clinvar/133071 ^@ NM_000540.2(RYR1):c.14474G>C (p.Arg4825Pro) http://identifiers.org/clinvar/133121 ^@ NM_000540.2(RYR1):c.2943G>C (p.Thr981=) http://identifiers.org/clinvar/133171 ^@ NM_000540.2(RYR1):c.680A>T (p.Asp227Val) http://identifiers.org/clinvar/133221 ^@ NM_000540.2(RYR1):c.8290G>A (p.Glu2764Lys) http://identifiers.org/clinvar/133300 ^@ NM_000441.1(SLC26A4):c.691G>C (p.Val231Leu) http://identifiers.org/clinvar/133363 ^@ NM_017617.4(NOTCH1):c.5167+115G>A http://identifiers.org/clinvar/133413 ^@ NM_003820.3(TNFRSF14):c.305-98G>A http://identifiers.org/clinvar/133463 ^@ NM_004304.4(ALK):c.2127C>A (p.Asn709Lys) http://identifiers.org/clinvar/133514 ^@ NM_000038.5(APC):c.7621A>G (p.Ile2541Val) http://identifiers.org/clinvar/133564 ^@ NM_152641.3(ARID2):c.3068C>T (p.Pro1023Leu) http://identifiers.org/clinvar/133614 ^@ NM_000051.3(ATM):c.3296A>G (p.Asp1099Gly) http://identifiers.org/clinvar/133664 ^@ NM_004656.3(BAP1):c.1786A>G (p.Ser596Gly) http://identifiers.org/clinvar/133714 ^@ NM_000057.3(BLM):c.1877A>T (p.Tyr626Phe) http://identifiers.org/clinvar/133768 ^@ NM_001211.5(BUB1B):c.1615_1617delAAG (p.Lys540del) http://identifiers.org/clinvar/133818 ^@ NM_001321786.1(CBLB):c.1480A>G (p.Asn494Asp) http://identifiers.org/clinvar/133868 ^@ NM_015083.2(CDK12):c.1703_1705delCTT (p.Ser569del) http://identifiers.org/clinvar/133918 ^@ NM_015125.4(CIC):c.4487G>A (p.Arg1496His) http://identifiers.org/clinvar/135628 ^@ NM_001135937.2(SMAD2):c.732G>C (p.Trp244Cys) http://identifiers.org/clinvar/135688 ^@ NM_000038.5(APC):c.2347G>T (p.Ala783Ser) http://identifiers.org/clinvar/135739 ^@ NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) http://identifiers.org/clinvar/135794 ^@ NM_000059.3(BRCA2):c.267G>A (p.Pro89=) http://identifiers.org/clinvar/135848 ^@ NM_000249.3(MLH1):c.2017T>C (p.Phe673Leu) http://identifiers.org/clinvar/135898 ^@ NM_000264.3(PTCH1):c.4128C>T (p.Ser1376=) http://identifiers.org/clinvar/135948 ^@ NM_000546.5(TP53):c.145G>C (p.Asp49His) http://identifiers.org/clinvar/136000 ^@ NM_016081.3(PALLD):c.3246T>C (p.Tyr1082=) http://identifiers.org/clinvar/136050 ^@ NM_004329.2(BMPR1A):c.198C>T (p.His66=) http://identifiers.org/clinvar/136101 ^@ NM_020975.4(RET):c.1467C>A (p.Asp489Glu) http://identifiers.org/clinvar/136151 ^@ NM_032043.2(BRIP1):c.612C>G (p.Ser204=) http://identifiers.org/clinvar/136211 ^@ NM_134424.3(RAD52):c.967+135G>T http://identifiers.org/clinvar/136262 ^@ NM_001098.2(ACO2):c.486C>T (p.Gly162=) http://identifiers.org/clinvar/136313 ^@ NM_006796.2(AFG3L2):c.1026+8G>A http://identifiers.org/clinvar/136364 ^@ NM_000692.4(ALDH1B1):c.627G>A (p.Lys209=) http://identifiers.org/clinvar/185853 ^@ NM_002878.3(RAD51D):c.339A>C (p.Lys113Asn) http://identifiers.org/clinvar/187055 ^@ NM_007294.3(BRCA1):c.3481G>T (p.Glu1161Ter) http://identifiers.org/clinvar/186203 ^@ NM_007294.3(BRCA1):c.2564A>C (p.Gln855Pro) http://identifiers.org/clinvar/186453 ^@ NM_007294.3(BRCA1):c.1959A>G (p.Lys653=) http://identifiers.org/clinvar/184064 ^@ NM_007294.3(BRCA1):c.378A>G (p.Gln126=) http://identifiers.org/clinvar/184964 ^@ NM_032043.2(BRIP1):c.2100A>G (p.Leu700=) http://identifiers.org/clinvar/187005 ^@ NM_000546.5(TP53):c.782G>C (p.Ser261Thr) http://identifiers.org/clinvar/184014 ^@ NM_000546.5(TP53):c.509C>T (p.Thr170Met) http://identifiers.org/clinvar/186003 ^@ NM_000546.5(TP53):c.249G>A (p.Ala83=) http://identifiers.org/clinvar/183713 ^@ NM_000455.4(STK11):c.666C>T (p.Pro222=) http://identifiers.org/clinvar/184314 ^@ NM_000455.4(STK11):c.*1G>A http://identifiers.org/clinvar/183963 ^@ NM_007194.3(CHEK2):c.1023C>T (p.Asn341=) http://identifiers.org/clinvar/187977 ^@ NM_004409.4(DMPK):c.*224_*226[398] http://identifiers.org/clinvar/188027 ^@ NM_004409.4(DMPK):c.*224_*226[75] http://identifiers.org/clinvar/188128 ^@ NM_000257.3(MYH7):c.2481G>C (p.Trp827Cys) http://identifiers.org/clinvar/188077 ^@ NM_021175.3(HAMP):c.216C>A (p.Cys72Ter) http://identifiers.org/clinvar/242615 ^@ NM_004990.3(MARS):c.1177G>A (p.Ala393Thr) http://identifiers.org/clinvar/226742 ^@ NM_001018116.2(CAVIN4):c.57G>A (p.Ser19=) http://identifiers.org/clinvar/227294 ^@ NM_015404.3(WHRN):c.75C>T (p.Gly25=) http://identifiers.org/clinvar/228025 ^@ NM_001128228.2(TPRN):c.2023G>A (p.Ala675Thr) http://identifiers.org/clinvar/229314 ^@ NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) http://identifiers.org/clinvar/227093 ^@ NM_005422.2(TECTA):c.-13T>C http://identifiers.org/clinvar/227774 ^@ NM_001277269.1(OTOG):c.328+15C>T http://identifiers.org/clinvar/226892 ^@ NM_001277269.1(OTOG):c.4123G>C (p.Ala1375Pro) http://identifiers.org/clinvar/228864 ^@ NM_000256.3(MYBPC3):c.-10G>A http://identifiers.org/clinvar/229114 ^@ NM_173591.3(OTOGL):c.910G>C (p.Ala304Pro) http://identifiers.org/clinvar/226942 ^@ NM_173591.3(OTOGL):c.3400A>G (p.Ile1134Val) http://identifiers.org/clinvar/227824 ^@ NM_173591.3(OTOGL):c.4879G>A (p.Glu1627Lys) http://identifiers.org/clinvar/228914 ^@ NM_000257.3(MYH7):c.5088G>C (p.Glu1696Asp) http://identifiers.org/clinvar/229264 ^@ NM_153700.2(STRC):c.(?_3519)_(3557_?)+28dup http://identifiers.org/clinvar/226642 ^@ NM_001451.2(FOXF1):c.873C>T (p.Ser291=) http://identifiers.org/clinvar/226792 ^@ NM_016239.3(MYO15A):c.915C>T (p.Tyr305=) http://identifiers.org/clinvar/228964 ^@ NM_016239.3(MYO15A):c.6620C>T (p.Pro2207Leu) http://identifiers.org/clinvar/229064 ^@ NM_001042492.2(NF1):c.7439A>G (p.His2480Arg) http://identifiers.org/clinvar/226492 ^@ NM_017950.3(CCDC40):c.2868G>A (p.Lys956=) http://identifiers.org/clinvar/229014 ^@ NM_003803.3(MYOM1):c.*10C>T http://identifiers.org/clinvar/228814 ^@ NM_144612.6(LOXHD1):c.1759C>T (p.Arg587Trp) http://identifiers.org/clinvar/227975 ^@ NM_001039876.2(SYNE4):c.411G>A (p.Met137Ile) http://identifiers.org/clinvar/227243 ^@ NM_001039213.3(CEACAM16):c.941-8C>T http://identifiers.org/clinvar/227574 ^@ NM_001145809.1(MYH14):c.1944C>T (p.Asp648=) http://identifiers.org/clinvar/228764 ^@ NM_000219.5(KCNE1):c.293G>A (p.Arg98Gln) http://identifiers.org/clinvar/229364 ^@ NM_001039141.2(TRIOBP):c.6170G>A (p.Arg2057His) http://identifiers.org/clinvar/226542 ^@ NM_001161529.1(CSF2RA):c.549G>C (p.Leu183=) http://identifiers.org/clinvar/228664 ^@ NM_000501.3(ELN):c.1951G>A (p.Gly651Arg) http://identifiers.org/clinvar/234308 ^@ NM_004895.4(NLRP3):c.3043A>G (p.Lys1015Glu) http://identifiers.org/clinvar/234883 ^@ NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) http://identifiers.org/clinvar/234833 ^@ NM_138361.5(LRSAM1):c.2011C>T (p.Gln671Ter) http://identifiers.org/clinvar/234582 ^@ NM_000136.2(FANCC):c.1363G>T (p.Ala455Ser) http://identifiers.org/clinvar/234430 ^@ NM_000136.2(FANCC):c.706A>G (p.Met236Val) http://identifiers.org/clinvar/234480 ^@ NM_000136.2(FANCC):c.748C>A (p.Leu250Ile) http://identifiers.org/clinvar/234632 ^@ NM_000314.6(PTEN):c.-1140_-1139delCC http://identifiers.org/clinvar/234682 ^@ NM_032667.6(BSCL2):c.1133C>T (p.Thr378Ile) http://identifiers.org/clinvar/234732 ^@ NM_002180.2(IGHMBP2):c.905A>G (p.Gln302Arg) http://identifiers.org/clinvar/231555 ^@ NM_000059.3(BRCA2):c.7426_7428delGAA (p.Glu2476del) http://identifiers.org/clinvar/234360 ^@ NM_000243.2(MEFV):c.826G>T (p.Glu276Ter) http://identifiers.org/clinvar/234782 ^@ NM_014646.2(LPIN2):c.1115C>T (p.Ala372Val) http://identifiers.org/clinvar/234531 ^@ NM_139058.2(ARX):c.1170C>T (p.Gly390=) http://identifiers.org/clinvar/232355 ^@ NM_001128425.1(MUTYH):c.12C>A (p.Leu4=) http://identifiers.org/clinvar/232255 ^@ NM_000465.3(BARD1):c.1598A>T (p.Tyr533Phe) http://identifiers.org/clinvar/229866 ^@ NM_000465.3(BARD1):c.350A>G (p.Asp117Gly) http://identifiers.org/clinvar/233645 ^@ NM_000251.2(MSH2):c.-68-191T>C http://identifiers.org/clinvar/229766 ^@ NM_000179.2(MSH6):c.1827A>T (p.Leu609=) http://identifiers.org/clinvar/232656 ^@ NM_000179.2(MSH6):c.2806G>A (p.Asp936Asn) http://identifiers.org/clinvar/229716 ^@ NM_000179.2(MSH6):c.2963G>T (p.Arg988Leu) http://identifiers.org/clinvar/230016 ^@ NM_000179.2(MSH6):c.3596G>A (p.Ser1199Asn) http://identifiers.org/clinvar/231905 ^@ NM_000249.3(MLH1):c.1299A>G (p.Glu433=) http://identifiers.org/clinvar/231755 ^@ NM_000038.5(APC):c.858T>C (p.His286=) http://identifiers.org/clinvar/229816 ^@ NM_000038.5(APC):c.1959-2A>G http://identifiers.org/clinvar/263641 ^@ NM_002474.2(MYH11):c.2692G>A (p.Ala898Thr) http://identifiers.org/clinvar/263841 ^@ NM_002474.2(MYH11):c.99G>C (p.Lys33Asn) http://identifiers.org/clinvar/263336 ^@ NM_030777.3(SLC2A10):c.1212G>T (p.Gly404=) http://identifiers.org/clinvar/264652 ^@ NM_001204.6(BMPR2):c.1443_1445delAGA (p.Glu481del) http://identifiers.org/clinvar/264712 ^@ NM_001242896.1(DEPDC5):c.59-1G>C http://identifiers.org/clinvar/264762 ^@ NM_001242896.1(DEPDC5):c.3484A>G (p.Ser1162Gly) http://identifiers.org/clinvar/264917 ^@ NM_000059.3(BRCA2):c.632-1199C>T http://identifiers.org/clinvar/264967 ^@ NM_000059.3(BRCA2):c.8633-1008G>A http://identifiers.org/clinvar/264867 ^@ NM_000059.3(BRCA2):c.9257-6553dup http://identifiers.org/clinvar/264817 ^@ NM_007294.3(BRCA1):c.5193+1232_5193+1234del http://identifiers.org/clinvar/265072 ^@ NM_033337.2(CAV3):c.303G>C (p.Trp101Cys) http://identifiers.org/clinvar/265122 ^@ NM_005670.3(EPM2A):c.208G>C (p.Glu70Gln) http://identifiers.org/clinvar/265172 ^@ NM_000161.2(GCH1):c.610delG (p.Val204Terfs) http://identifiers.org/clinvar/265019 ^@ NM_001171.5(ABCC6):c.2861_2866delTCCTCT (p.Phe954_Leu955del) http://identifiers.org/clinvar/266888 ^@ NM_000059.3(BRCA2):c.566_567insG (p.Asp189Glufs) http://identifiers.org/clinvar/266988 ^@ NM_000059.3(BRCA2):c.715dupA (p.Ser239Lysfs) http://identifiers.org/clinvar/266738 ^@ NM_000059.3(BRCA2):c.3171_3172delGA (p.Lys1058Thrfs) http://identifiers.org/clinvar/266788 ^@ NM_000059.3(BRCA2):c.4030_4035delAATGATinsC (p.Asn1344Hisfs) http://identifiers.org/clinvar/266838 ^@ NM_000059.3(BRCA2):c.4930_4937delGAAAAAGA (p.Glu1644Asnfs) http://identifiers.org/clinvar/266938 ^@ NM_000059.3(BRCA2):c.6313delA (p.Ile2105Tyrfs) http://identifiers.org/clinvar/267038 ^@ NM_000059.3(BRCA2):c.7861delT (p.Tyr2621Ilefs) http://identifiers.org/clinvar/267088 ^@ NM_000059.3(BRCA2):c.8466dupT (p.Gln2823Serfs) http://identifiers.org/clinvar/267138 ^@ NM_000059.3(BRCA2):c.9105T>G (p.Tyr3035Ter) http://identifiers.org/clinvar/266288 ^@ NM_007294.3(BRCA1):c.2649_2650delAA (p.Thr884Ilefs) http://identifiers.org/clinvar/267199 ^@ NC_000011.8:g.31379000_31708000del329001 http://identifiers.org/clinvar/267261 ^@ NM_000370.3(TTPA):c.205-1G>T http://identifiers.org/clinvar/267340 ^@ NM_000251.2(MSH2):c.367-?_645+?del http://identifiers.org/clinvar/267407 ^@ c.5395-12A>G http://identifiers.org/clinvar/291117 ^@ NM_004006.2(DMD):c.1482+3A>G http://identifiers.org/clinvar/291168 ^@ NM_001130987.1(DYSF):c.6174-9C>T http://identifiers.org/clinvar/291218 ^@ NM_182961.3(SYNE1):c.25120-8C>A http://identifiers.org/clinvar/291268 ^@ NM_015102.4(NPHP4):c.3012G>A (p.Thr1004=) http://identifiers.org/clinvar/291383 ^@ NM_001918.3(DBT):c.*8554dupA http://identifiers.org/clinvar/291433 ^@ NM_001918.3(DBT):c.*2542delG http://identifiers.org/clinvar/291483 ^@ NM_001854.3(COL11A1):c.*687C>T http://identifiers.org/clinvar/291583 ^@ NM_015074.3(KIF1B):c.4808+9C>T http://identifiers.org/clinvar/291646 ^@ NM_015074.3(KIF1B):c.*3644dupA http://identifiers.org/clinvar/291746 ^@ NM_007375.3(TARDBP):c.*666G>A http://identifiers.org/clinvar/291696 ^@ NM_013296.4(GPSM2):c.-357C>T http://identifiers.org/clinvar/291796 ^@ NM_006610.3(MASP2):c.661T>C (p.Phe221Leu) http://identifiers.org/clinvar/292346 ^@ NM_005518.3(HMGCS2):c.26A>G (p.Lys9Arg) http://identifiers.org/clinvar/291896 ^@ NM_013319.2(UBIAD1):c.*1427T>C http://identifiers.org/clinvar/292046 ^@ NM_138959.2(VANGL1):c.*2099G>T http://identifiers.org/clinvar/291846 ^@ NM_003051.3(SLC16A1):c.*516C>G http://identifiers.org/clinvar/292146 ^@ NM_001232.3(CASQ2):c.-226C>G http://identifiers.org/clinvar/292296 ^@ NM_006623.3(PHGDH):c.-222G>A http://identifiers.org/clinvar/292096 ^@ NM_138959.2(VANGL1):c.*5808C>T http://identifiers.org/clinvar/292196 ^@ NM_005957.4(MTHFR):c.*2474_*2476delAAG http://identifiers.org/clinvar/292246 ^@ NM_005957.4(MTHFR):c.117C>T (p.Pro39=) http://identifiers.org/clinvar/293135 ^@ NM_000702.3(ATP1A2):c.*18C>T http://identifiers.org/clinvar/293185 ^@ NM_000702.3(ATP1A2):c.*1953T>C http://identifiers.org/clinvar/293235 ^@ NM_002857.3(PEX19):c.-4C>T http://identifiers.org/clinvar/293085 ^@ NM_002241.4(KCNJ10):c.*2490G>A http://identifiers.org/clinvar/293385 ^@ NM_006182.2(DDR2):c.*77C>G http://identifiers.org/clinvar/293335 ^@ NM_003001.3(SDHC):c.*780G>A http://identifiers.org/clinvar/293635 ^@ NM_000130.4(F5):c.885C>T (p.Thr295=) http://identifiers.org/clinvar/293435 ^@ NM_004431.4(EPHA2):c.1215C>T (p.His405=) http://identifiers.org/clinvar/293535 ^@ NM_006996.2(SLC19A2):c.-2G>A http://identifiers.org/clinvar/293785 ^@ NM_022089.3(ATP13A2):c.2252-11A>G http://identifiers.org/clinvar/293835 ^@ NM_018122.4(DARS2):c.*653T>G http://identifiers.org/clinvar/294035 ^@ NM_005562.2(LAMC2):c.*848C>T http://identifiers.org/clinvar/293035 ^@ NM_003126.2(SPTA1):c.1600-10A>G http://identifiers.org/clinvar/294085 ^@ NM_000433.3(NCF2):c.443C>T (p.Thr148Met) http://identifiers.org/clinvar/293985 ^@ NM_005562.2(LAMC2):c.69C>T (p.Ser23=) http://identifiers.org/clinvar/293285 ^@ NM_004550.4(NDUFS2):c.*102_*107dupGTGTGT http://identifiers.org/clinvar/294285 ^@ NM_031935.2(HMCN1):c.15256+4A>T http://identifiers.org/clinvar/294335 ^@ NM_003748.3(ALDH4A1):c.*1199A>C http://identifiers.org/clinvar/293485 ^@ NM_005149.2(TBX19):c.*243T>C http://identifiers.org/clinvar/293585 ^@ NM_000130.4(F5):c.5419+11C>G http://identifiers.org/clinvar/293685 ^@ NM_006894.5(FMO3):c.-8G>A http://identifiers.org/clinvar/293735 ^@ NM_000639.2(FASLG):c.280T>G (p.Leu94Val) http://identifiers.org/clinvar/293885 ^@ NM_002065.6(GLUL):c.*2604C>A http://identifiers.org/clinvar/335830 ^@ NM_014946.3(SPAST):c.586+9_586+12delTAAT http://identifiers.org/clinvar/336230 ^@ NM_001430.4(EPAS1):c.-102C>G http://identifiers.org/clinvar/336330 ^@ NM_139279.5(MCFD2):c.*3072_*3073insGG http://identifiers.org/clinvar/335980 ^@ NM_005633.3(SOS1):c.*2503_*2506dupAAAT http://identifiers.org/clinvar/336380 ^@ NM_139279.5(MCFD2):c.*62T>G http://identifiers.org/clinvar/336030 ^@ NM_022436.2(ABCG5):c.*399C>T http://identifiers.org/clinvar/336437 ^@ NM_000179.2(MSH6):c.-51G>T http://identifiers.org/clinvar/336130 ^@ NM_133259.3(LRPPRC):c.*1088G>C http://identifiers.org/clinvar/344666 ^@ NM_003242.5(TGFBR2):c.*105G>A http://identifiers.org/clinvar/336637 ^@ NM_001039348.2(EFEMP1):c.-67G>A http://identifiers.org/clinvar/344766 ^@ NM_015141.3(GPD1L):c.*2012G>T http://identifiers.org/clinvar/336737 ^@ NM_032180.2(FAM161A):c.1408G>C (p.Glu470Gln) http://identifiers.org/clinvar/336487 ^@ NM_000145.3(FSHR):c.685A>G (p.Arg229Gly) http://identifiers.org/clinvar/336587 ^@ NM_001135659.2(NRXN1):c.-1334C>G http://identifiers.org/clinvar/344466 ^@ NM_006580.3(CLDN16):c.*1313G>A http://identifiers.org/clinvar/337037 ^@ NM_015120.4(ALMS1):c.*111A>G http://identifiers.org/clinvar/344566 ^@ NM_000461.4(THRB):c.*3911C>A http://identifiers.org/clinvar/337087 ^@ NM_004082.4(DCTN1):c.1393-7G>T http://identifiers.org/clinvar/336887 ^@ NM_001002755.2(NFU1):c.702G>A (p.Glu234=) http://identifiers.org/clinvar/344616 ^@ NM_000461.4(THRB):c.*1173A>C http://identifiers.org/clinvar/336937 ^@ NM_032601.3(MCEE):c.368T>A (p.Ile123Asn) http://identifiers.org/clinvar/337137 ^@ NM_013247.4(HTRA2):c.1155C>T (p.Pro385=) http://identifiers.org/clinvar/344966 ^@ NM_001106.3(ACVR2B):c.*2364_*2365insC http://identifiers.org/clinvar/337187 ^@ NM_000821.6(GGCX):c.*3921G>A http://identifiers.org/clinvar/337237 ^@ NM_000821.6(GGCX):c.*843_*846delTTAA http://identifiers.org/clinvar/337537 ^@ NM_014014.4(SNRNP200):c.5134-6C>G http://identifiers.org/clinvar/345316 ^@ NM_182760.3(SUMF1):c.664G>C (p.Gly222Arg) http://identifiers.org/clinvar/342277 ^@ NM_016247.3(IMPG2):c.*3780T>A http://identifiers.org/clinvar/345466 ^@ NM_024513.3(FYCO1):c.*1655A>G http://identifiers.org/clinvar/346655 ^@ NM_032682.5(FOXP1):c.-208C>G http://identifiers.org/clinvar/345516 ^@ NM_024513.3(FYCO1):c.1985C>T (p.Ser662Phe) http://identifiers.org/clinvar/342377 ^@ NM_033084.4(FANCD2):c.3788A>G (p.Glu1263Gly) http://identifiers.org/clinvar/345616 ^@ NM_015175.2(NBEAL2):c.474-4C>T http://identifiers.org/clinvar/342527 ^@ NM_198196.2(CD96):c.728G>A (p.Arg243Gln) http://identifiers.org/clinvar/347105 ^@ NM_001059.2(TACR3):c.1311T>C (p.Asn437=) http://identifiers.org/clinvar/342577 ^@ NM_198196.2(CD96):c.*1803G>A http://identifiers.org/clinvar/342727 ^@ NM_020754.3(ARHGAP31):c.*2842T>C http://identifiers.org/clinvar/342677 ^@ NM_020754.3(ARHGAP31):c.4132A>G (p.Ser1378Gly) http://identifiers.org/clinvar/347305 ^@ NM_001148.4(ANK2):c.670-10A>G http://identifiers.org/clinvar/347355 ^@ NM_001148.4(ANK2):c.*535delA http://identifiers.org/clinvar/342827 ^@ NM_053025.3(MYLK):c.*1576G>A http://identifiers.org/clinvar/342977 ^@ NM_000373.3(UMPS):c.*2614G>A http://identifiers.org/clinvar/346405 ^@ NM_000925.3(PDHB):c.710T>A (p.Ile237Lys) http://identifiers.org/clinvar/346505 ^@ NM_000248.3(MITF):c.*115C>T http://identifiers.org/clinvar/346605 ^@ NM_032682.5(FOXP1):c.*1296C>T http://identifiers.org/clinvar/346955 ^@ NM_000097.5(CPOX):c.*927G>A http://identifiers.org/clinvar/353593 ^@ NM_002310.5(LIFR):c.*987C>T http://identifiers.org/clinvar/353793 ^@ NM_002203.3(ITGA2):c.*483delG http://identifiers.org/clinvar/353843 ^@ NM_002203.3(ITGA2):c.*3048G>A http://identifiers.org/clinvar/362210 ^@ NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) http://identifiers.org/clinvar/358472 ^@ NM_006348.3(COG5):c.544A>G (p.Ile182Val) http://identifiers.org/clinvar/358522 ^@ NM_000441.1(SLC26A4):c.*1610C>T http://identifiers.org/clinvar/362360 ^@ NM_177924.4(ASAH1):c.*686T>C http://identifiers.org/clinvar/358572 ^@ NM_000108.4(DLD):c.1503G>A (p.Ala501=) http://identifiers.org/clinvar/354432 ^@ NM_004385.4(VCAN):c.6127G>A (p.Glu2043Lys) http://identifiers.org/clinvar/362560 ^@ NM_003018.3(SFTPC):c.463G>C (p.Ala155Pro) http://identifiers.org/clinvar/362610 ^@ NM_006129.4(BMP1):c.*333G>A http://identifiers.org/clinvar/354582 ^@ NM_002397.4(MEF2C):c.*51_*55delGCTAT http://identifiers.org/clinvar/362710 ^@ NM_000742.3(CHRNA2):c.-471G>A http://identifiers.org/clinvar/354632 ^@ NM_000439.4(PCSK1):c.*471C>G http://identifiers.org/clinvar/362810 ^@ NM_000553.4(WRN):c.3000G>C (p.Arg1000Ser) http://identifiers.org/clinvar/354532 ^@ NM_002890.2(RASA1):c.*97A>G http://identifiers.org/clinvar/354682 ^@ NM_005068.2(SIM1):c.816C>T (p.Cys272=) http://identifiers.org/clinvar/354832 ^@ NM_007214.4(SEC63):c.*3127C>T http://identifiers.org/clinvar/354732 ^@ NM_001491.2(GCNT2):c.*1733T>G http://identifiers.org/clinvar/359311 ^@ NM_000238.3(KCNH2):c.1612A>G (p.Lys538Glu) http://identifiers.org/clinvar/354882 ^@ NM_007214.4(SEC63):c.*396T>C http://identifiers.org/clinvar/359511 ^@ NM_001101426.3(ISPD):c.*2759G>A http://identifiers.org/clinvar/355082 ^@ NM_000493.3(COL10A1):c.*315dupA http://identifiers.org/clinvar/354982 ^@ NM_014028.3(OSTM1):c.950-12T>C http://identifiers.org/clinvar/359561 ^@ NM_001101426.3(ISPD):c.*1146G>T http://identifiers.org/clinvar/359611 ^@ NM_001277115.1(DNAH11):c.2169+6G>T http://identifiers.org/clinvar/355233 ^@ NM_000426.3(LAMA2):c.-103C>T http://identifiers.org/clinvar/355383 ^@ NM_006208.2(ENPP1):c.*1236_*1238delGCT http://identifiers.org/clinvar/355433 ^@ NM_006208.2(ENPP1):c.*4636C>T http://identifiers.org/clinvar/355483 ^@ NM_017651.4(AHI1):c.*1119_*1121delTAT http://identifiers.org/clinvar/359811 ^@ NM_001031710.2(KLHL7):c.*779A>G http://identifiers.org/clinvar/355333 ^@ NM_006208.2(ENPP1):c.313+43_313+46delGTGT http://identifiers.org/clinvar/360011 ^@ NM_002047.3(GARS):c.1100A>G (p.Asn367Ser) http://identifiers.org/clinvar/360061 ^@ NM_198428.2(BBS9):c.385C>T (p.His129Tyr) http://identifiers.org/clinvar/355633 ^@ NM_003764.3(STX11):c.*2160_*2162delGAG http://identifiers.org/clinvar/365209 ^@ NM_014908.3(DOLK):c.-424G>A http://identifiers.org/clinvar/365259 ^@ NM_054012.3(ASS1):c.858A>T (p.Ala286=) http://identifiers.org/clinvar/365459 ^@ NM_000368.4(TSC1):c.*2168C>T http://identifiers.org/clinvar/365659 ^@ NM_000787.3(DBH):c.1173G>A (p.Thr391=) http://identifiers.org/clinvar/365809 ^@ NM_014564.4(LHX3):c.*185T>A http://identifiers.org/clinvar/365910 ^@ NM_006412.3(AGPAT2):c.*217G>A http://identifiers.org/clinvar/366010 ^@ NM_024757.4(EHMT1):c.1513G>A (p.Gly505Ser) http://identifiers.org/clinvar/366060 ^@ NM_144966.5(FREM1):c.*2296G>A http://identifiers.org/clinvar/366110 ^@ NM_144966.5(FREM1):c.5596C>T (p.His1866Tyr) http://identifiers.org/clinvar/366160 ^@ NM_144966.5(FREM1):c.1345C>T (p.Arg449Trp) http://identifiers.org/clinvar/366260 ^@ NM_002451.3(MTAP):c.*393G>C http://identifiers.org/clinvar/311889 ^@ NM_001127217.2(SMAD9):c.*200A>C http://identifiers.org/clinvar/367678 ^@ NM_000264.3(PTCH1):c.-78G>A http://identifiers.org/clinvar/311989 ^@ NM_207361.5(FREM2):c.5264-5T>G http://identifiers.org/clinvar/312189 ^@ NM_014252.3(SLC25A15):c.*515A>G http://identifiers.org/clinvar/298563 ^@ NM_016169.3(SUFU):c.-181A>G http://identifiers.org/clinvar/312339 ^@ NM_024570.3(RNASEH2B):c.*249T>C http://identifiers.org/clinvar/312589 ^@ NM_005708.4(GPC6):c.*2031A>C http://identifiers.org/clinvar/298813 ^@ NM_001134363.2(RBM20):c.*511G>A http://identifiers.org/clinvar/312689 ^@ NM_022489.3(INF2):c.1582C>T (p.Pro528Ser) http://identifiers.org/clinvar/312839 ^@ NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) http://identifiers.org/clinvar/298963 ^@ NM_004281.3(BAG3):c.1634C>G (p.Pro545Arg) http://identifiers.org/clinvar/299113 ^@ NM_001609.3(ACADSB):c.*1508C>T http://identifiers.org/clinvar/314528 ^@ NM_013382.5(POMT2):c.*1317A>G http://identifiers.org/clinvar/299563 ^@ NM_201590.2(CACNB2):c.1354C>T (p.Arg452Cys) http://identifiers.org/clinvar/306266 ^@ NM_024698.5(SLC25A22):c.401C>T (p.Ala134Val) http://identifiers.org/clinvar/300752 ^@ NM_002658.4(PLAU):c.681-7C>T http://identifiers.org/clinvar/300802 ^@ NM_014000.2(VCL):c.*292G>C http://identifiers.org/clinvar/300852 ^@ NM_012330.3(KAT6B):c.-362C>T http://identifiers.org/clinvar/329211 ^@ NM_017827.3(SARS2):c.1321G>A (p.Ala441Thr) http://identifiers.org/clinvar/317678 ^@ NM_000246.3(CIITA):c.294C>T (p.Ile98=) http://identifiers.org/clinvar/309845 ^@ NM_000456.2(SUOX):c.*26C>G http://identifiers.org/clinvar/317828 ^@ NM_005236.2(ERCC4):c.*248G>T http://identifiers.org/clinvar/318130 ^@ NM_001143979.1(NDE1):c.*896A>C http://identifiers.org/clinvar/329811 ^@ NM_002103.4(GYS1):c.1549+7G>A http://identifiers.org/clinvar/310045 ^@ NM_000552.4(VWF):c.6976+11C>T http://identifiers.org/clinvar/329861 ^@ NM_017636.3(TRPM4):c.2229G>A (p.Glu743=) http://identifiers.org/clinvar/318330 ^@ NM_000548.4(TSC2):c.4286C>T (p.Ala1429Val) http://identifiers.org/clinvar/318430 ^@ NM_001089.2(ABCA3):c.2994C>T (p.Arg998=) http://identifiers.org/clinvar/310195 ^@ NM_002076.3(GNS):c.*566A>G http://identifiers.org/clinvar/311739 ^@ NM_015087.4(SPG20):c.*2256G>A http://identifiers.org/clinvar/310295 ^@ NM_021150.3(GRIP1):c.*234G>A http://identifiers.org/clinvar/318480 ^@ NM_153603.3(COG7):c.963C>T (p.Thr321=) http://identifiers.org/clinvar/311839 ^@ NM_001127217.2(SMAD9):c.*2465T>C http://identifiers.org/clinvar/318680 ^@ NM_020705.2(TBC1D24):c.*3218T>G http://identifiers.org/clinvar/311939 ^@ NM_207361.5(FREM2):c.690T>C (p.Tyr230=) http://identifiers.org/clinvar/310595 ^@ NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile) http://identifiers.org/clinvar/310900 ^@ NM_004115.3(FGF14):c.477C>T (p.Ser159=) http://identifiers.org/clinvar/312489 ^@ NM_052910.2(SLITRK1):c.*761G>A http://identifiers.org/clinvar/310950 ^@ NM_002312.3(LIG4):c.*906T>A http://identifiers.org/clinvar/312939 ^@ NM_006177.3(NRL):c.*108C>T http://identifiers.org/clinvar/320420 ^@ NM_001361.4(DHODH):c.154G>C (p.Glu52Gln) http://identifiers.org/clinvar/311789 ^@ NM_000538.3(RFXAP):c.601-4C>T http://identifiers.org/clinvar/320520 ^@ NM_021615.4(CHST6):c.*4305T>C http://identifiers.org/clinvar/320570 ^@ NM_021615.4(CHST6):c.*1426C>A http://identifiers.org/clinvar/320670 ^@ NM_022041.3(GAN):c.*294A>G http://identifiers.org/clinvar/312039 ^@ NM_207361.5(FREM2):c.9282A>C (p.Pro3094=) http://identifiers.org/clinvar/321120 ^@ NM_020686.5(ABAT):c.*1483G>T http://identifiers.org/clinvar/320920 ^@ NM_001127464.2(ZNF469):c.4279C>G (p.Leu1427Val) http://identifiers.org/clinvar/312139 ^@ NM_020751.2(COG6):c.1009+9A>G http://identifiers.org/clinvar/320970 ^@ NM_001127464.2(ZNF469):c.7181C>A (p.Ser2394Tyr) http://identifiers.org/clinvar/321270 ^@ NM_000303.2(PMM2):c.*1301delA http://identifiers.org/clinvar/312239 ^@ NM_003701.3(TNFSF11):c.*94T>G http://identifiers.org/clinvar/312289 ^@ NM_000321.2(RB1):c.1333-9dupT http://identifiers.org/clinvar/312389 ^@ NM_000053.3(ATP7B):c.1834A>G (p.Ile612Val) http://identifiers.org/clinvar/312539 ^@ NM_005708.4(GPC6):c.161-4G>T http://identifiers.org/clinvar/367778 ^@ NM_002294.2(LAMP2):c.*692G>A http://identifiers.org/clinvar/367828 ^@ NM_001167.3(XIAP):c.*3997A>G http://identifiers.org/clinvar/328561 ^@ NM_000453.2(SLC5A5):c.*343T>C http://identifiers.org/clinvar/367978 ^@ NM_001011658.3(TRAPPC2):c.*956_*957insTTTTTTTT http://identifiers.org/clinvar/328861 ^@ NM_004646.3(NPHS1):c.2686C>G (p.Gln896Glu) http://identifiers.org/clinvar/368178 ^@ NM_000444.5(PHEX):c.*361T>C http://identifiers.org/clinvar/329061 ^@ NM_000540.2(RYR1):c.7385C>T (p.Pro2462Leu) http://identifiers.org/clinvar/329111 ^@ NM_000540.2(RYR1):c.11907+8G>A http://identifiers.org/clinvar/329161 ^@ NM_033064.4(ATCAY):c.*441G>C http://identifiers.org/clinvar/368478 ^@ NM_000084.4(CLCN5):c.993G>C (p.Leu331=) http://identifiers.org/clinvar/368578 ^@ NM_006306.3(SMC1A):c.*1240A>G http://identifiers.org/clinvar/329361 ^@ NM_000709.3(BCKDHA):c.435C>T (p.Ala145=) http://identifiers.org/clinvar/329411 ^@ NM_152296.4(ATP1A3):c.1905C>T (p.Ala635=) http://identifiers.org/clinvar/328611 ^@ NM_000095.2(COMP):c.1979C>G (p.Thr660Arg) http://identifiers.org/clinvar/328661 ^@ NM_001031726.3(C19orf12):c.*3402dupT http://identifiers.org/clinvar/328811 ^@ NM_000285.3(PEPD):c.672-9C>G http://identifiers.org/clinvar/329311 ^@ NM_003573.2(LTBP4):c.1915A>G (p.Thr639Ala) http://identifiers.org/clinvar/329761 ^@ NM_000554.5(CRX):c.*2380C>T http://identifiers.org/clinvar/337687 ^@ NM_018848.3(MKKS):c.*21A>G http://identifiers.org/clinvar/340738 ^@ NM_014339.6(IL17RA):c.*5778_*5779dupAA http://identifiers.org/clinvar/340888 ^@ NM_004782.3(SNAP29):c.*2783C>T http://identifiers.org/clinvar/341877 ^@ NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) http://identifiers.org/clinvar/342027 ^@ NM_018006.4(TRMU):c.*268_*269delAG http://identifiers.org/clinvar/391107 ^@ NM_001458.4(FLNC):c.4302C>T (p.Arg1434=) http://identifiers.org/clinvar/385779 ^@ NM_000077.4(CDKN2A):c.-19430T>C http://identifiers.org/clinvar/384640 ^@ NM_020822.2(KCNT1):c.760-19G>A http://identifiers.org/clinvar/388318 ^@ NM_000136.2(FANCC):c.216A>G (p.Ala72=) http://identifiers.org/clinvar/380393 ^@ NM_004612.3(TGFBR1):c.-49C>G http://identifiers.org/clinvar/384289 ^@ NM_000051.3(ATM):c.4410T>C (p.Tyr1470=) http://identifiers.org/clinvar/386029 ^@ NM_004281.3(BAG3):c.1035G>C (p.Glu345Asp) http://identifiers.org/clinvar/389468 ^@ NM_000077.4(CDKN2A):c.9G>A (p.Pro3=) http://identifiers.org/clinvar/384590 ^@ NM_201590.2(CACNB2):c.52-934C>T http://identifiers.org/clinvar/390807 ^@ NM_000535.6(PMS2):c.-19C>T http://identifiers.org/clinvar/388868 ^@ NM_153033.4(KCTD7):c.594C>T (p.Pro198=) http://identifiers.org/clinvar/385579 ^@ NM_000443.3(ABCB4):c.1231-16C>T http://identifiers.org/clinvar/378194 ^@ NM_000256.3(MYBPC3):c.2308+8C>T http://identifiers.org/clinvar/383137 ^@ NM_021830.4(TWNK):c.1609T>C (p.Tyr537His) http://identifiers.org/clinvar/388768 ^@ NM_032667.6(BSCL2):c.1169G>T (p.Arg390Leu) http://identifiers.org/clinvar/385829 ^@ NM_000445.4(PLEC):c.13662C>T (p.Tyr4554=) http://identifiers.org/clinvar/379441 ^@ NM_015631.5(TCTN3):c.-47T>G http://identifiers.org/clinvar/383638 ^@ NM_020975.4(RET):c.2939+20G>A http://identifiers.org/clinvar/378499 ^@ NM_030962.3(SBF2):c.513+17G>C http://identifiers.org/clinvar/391307 ^@ NM_000834.3(GRIN2B):c.80G>T (p.Arg27Leu) http://identifiers.org/clinvar/384239 ^@ NM_001931.4(DLAT):c.1815-17T>G http://identifiers.org/clinvar/384089 ^@ NM_015459.4(ATL3):c.661T>G (p.Tyr221Asp) http://identifiers.org/clinvar/390857 ^@ NM_006059.3(LAMC3):c.1572A>G (p.Gln524=) http://identifiers.org/clinvar/382236 ^@ NM_021625.4(TRPV4):c.330C>T (p.Tyr110=) http://identifiers.org/clinvar/390257 ^@ NM_000920.3(PC):c.1603+4G>T http://identifiers.org/clinvar/384139 ^@ NM_012463.3(ATP6V0A2):c.2005C>G (p.Leu669Val) http://identifiers.org/clinvar/391507 ^@ NM_006231.3(POLE):c.4290+20C>T http://identifiers.org/clinvar/390957 ^@ NM_017617.4(NOTCH1):c.7269A>C (p.Ser2423=) http://identifiers.org/clinvar/391007 ^@ NM_006231.3(POLE):c.762G>A (p.Pro254=) http://identifiers.org/clinvar/390907 ^@ NM_001126106.2(SLC7A7):c.1230A>G (p.Arg410=) http://identifiers.org/clinvar/382486 ^@ NM_004572.3(PKP2):c.1511-5T>C http://identifiers.org/clinvar/383087 ^@ NM_001003800.1(BICD2):c.213C>T (p.Ile71=) http://identifiers.org/clinvar/378244 ^@ NM_005002.4(NDUFA9):c.1104T>C (p.Asp368=) http://identifiers.org/clinvar/384740 ^@ NM_000075.3(CDK4):c.*12G>C http://identifiers.org/clinvar/384690 ^@ NM_144670.5(A2ML1):c.2197T>C (p.Phe733Leu) http://identifiers.org/clinvar/386329 ^@ NM_001613.2(ACTA2):c.174C>T (p.Asp58=) http://identifiers.org/clinvar/384189 ^@ NM_000059.3(BRCA2):c.2994T>G (p.Gly998=) http://identifiers.org/clinvar/386529 ^@ NM_006939.3(SOS2):c.591A>G (p.Leu197=) http://identifiers.org/clinvar/380142 ^@ NM_024740.2(ALG9):c.1383C>T (p.Thr461=) http://identifiers.org/clinvar/390207 ^@ NM_006329.3(FBLN5):c.1086C>T (p.Pro362=) http://identifiers.org/clinvar/390407 ^@ NM_016417.2(GLRX5):c.-9C>T http://identifiers.org/clinvar/380242 ^@ NM_005249.4(FOXG1):c.251C>A (p.Pro84His) http://identifiers.org/clinvar/382386 ^@ NM_153603.3(COG7):c.2013G>A (p.Leu671=) http://identifiers.org/clinvar/388468 ^@ NM_003977.3(AIP):c.25C>T (p.Arg9Trp) http://identifiers.org/clinvar/386379 ^@ NM_003239.4(TGFB3):c.*9G>A http://identifiers.org/clinvar/383688 ^@ NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) http://identifiers.org/clinvar/378449 ^@ NM_025215.5(PUS1):c.22C>T (p.Leu8=) http://identifiers.org/clinvar/385529 ^@ NM_006231.3(POLE):c.2409G>A (p.Ser803=) http://identifiers.org/clinvar/390707 ^@ NM_006231.3(POLE):c.1260C>T (p.Gly420=) http://identifiers.org/clinvar/47444 ^@ TTN:c.7740T>G (p.Ile2580Met) http://identifiers.org/clinvar/47494 ^@ NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) http://identifiers.org/clinvar/47544 ^@ NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) http://identifiers.org/clinvar/47594 ^@ NM_133378.4(TTN):c.90394+9T>A http://identifiers.org/clinvar/47644 ^@ NM_001256850.1(TTN):c.97013C>G (p.Pro32338Arg) http://identifiers.org/clinvar/47694 ^@ NM_133378.4(TTN):c.97878C>T (p.Ser32626=) http://identifiers.org/clinvar/47744 ^@ NM_133379.4(TTN):c.12226G>A (p.Glu4076Lys) http://identifiers.org/clinvar/47794 ^@ NM_133379.4(TTN):c.16075A>G (p.Met5359Val) http://identifiers.org/clinvar/47844 ^@ NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) http://identifiers.org/clinvar/47894 ^@ NM_144573.3(NEXN):c.1680_1682dupGGA (p.Glu562_Gly563insGlu) http://identifiers.org/clinvar/47944 ^@ NM_144612.6(LOXHD1):c.5213+13G>A http://identifiers.org/clinvar/47995 ^@ NM_005709.3(USH1C):c.1326+12C>T http://identifiers.org/clinvar/48046 ^@ NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) http://identifiers.org/clinvar/48096 ^@ NM_170707.3(LMNA):c.961C>T (p.Arg321Ter) http://identifiers.org/clinvar/48146 ^@ NM_174878.2(CLRN1):c.368C>A (p.Ala123Asp) http://identifiers.org/clinvar/48196 ^@ NM_194248.2(OTOF):c.2401_2402delGAinsTT (p.Glu801Leu) http://identifiers.org/clinvar/48246 ^@ NM_194248.2(OTOF):c.5038C>T (p.Arg1680Cys) http://identifiers.org/clinvar/48296 ^@ NM_198056.2(SCN5A):c.2788-6C>T http://identifiers.org/clinvar/48447 ^@ NM_206933.2(USH2A):c.1486A>C (p.Thr496Pro) http://identifiers.org/clinvar/48498 ^@ NM_206933.2(USH2A):c.3170A>G (p.Gln1057Arg) http://identifiers.org/clinvar/31 ^@ NM_138413.3(HOGA1):c.289C>T (p.Arg97Cys) http://identifiers.org/clinvar/32 ^@ HOGA1, IVS, G-T, +4 http://identifiers.org/clinvar/232 ^@ NM_182758.3(WDR72):c.2934G>A (p.Trp978Ter) http://identifiers.org/clinvar/255 ^@ XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN http://identifiers.org/clinvar/296 ^@ NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) http://identifiers.org/clinvar/407 ^@ NM_001165974.1(UROC1):c.1528C>T (p.Arg510Cys) http://identifiers.org/clinvar/489 ^@ QDPR, 3-BP INS, 390ACT http://identifiers.org/clinvar/567 ^@ NM_018344.5(SLC29A3):c.940delT (p.Tyr314Thrfs) http://identifiers.org/clinvar/992 ^@ XPA, IVS3AS, G-C http://identifiers.org/clinvar/1045 ^@ OBSL1, 1-BP INS, 1273A http://identifiers.org/clinvar/1068 ^@ NM_015272.4(RPGRIP1L):c.697A>T (p.Lys233Ter) http://identifiers.org/clinvar/1077 ^@ NM_001127897.3(RPGRIP1L):c.2269delA (p.Thr757Hisfs*13) http://identifiers.org/clinvar/1086 ^@ NM_176812.4(CHMP4B):c.481G>A (p.Glu161Lys) http://identifiers.org/clinvar/2184 ^@ NM_022370.3(ROBO3):c.733C>T (p.Arg245Trp) http://identifiers.org/clinvar/2229 ^@ NM_000551.3(VHL):c.388G>C (p.Val130Leu) http://identifiers.org/clinvar/2274 ^@ NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) http://identifiers.org/clinvar/2365 ^@ NM_213653.3(HFE2):c.959G>T (p.Gly320Val) http://identifiers.org/clinvar/2410 ^@ PINK1, 3-BP INS, 1602CAA http://identifiers.org/clinvar/2456 ^@ NM_000434.3(NEU1):c.674G>C (p.Arg225Pro) http://identifiers.org/clinvar/2501 ^@ EXT1, IVS1DS, G-C http://identifiers.org/clinvar/2596 ^@ ETFA, 3-BP DEL, NT808 http://identifiers.org/clinvar/2641 ^@ NM_000391.3(TPP1):c.1093T>C (p.Cys365Arg) http://identifiers.org/clinvar/2687 ^@ CCM2, 2-BP DEL, 1248AG http://identifiers.org/clinvar/2733 ^@ NM_004183.3(BEST1):c.884_886delTCA (p.Ile295del) http://identifiers.org/clinvar/2779 ^@ NM_000158.3(GBE1):c.1543C>T (p.Arg515Cys) http://identifiers.org/clinvar/2823 ^@ NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) http://identifiers.org/clinvar/2869 ^@ MCFD2, 8-BP DEL, NT263 http://identifiers.org/clinvar/2914 ^@ NM_173477.4(USH1G):c.143T>C (p.Leu48Pro) http://identifiers.org/clinvar/3004 ^@ NM_000226.3(KRT9):c.503T>C (p.Leu168Ser) http://identifiers.org/clinvar/3053 ^@ NM_000487.5(ARSA):c.302G>A (p.Gly101Asp) http://identifiers.org/clinvar/3153 ^@ NM_139057.3(ADAMTS17):c.2458dupG (p.Glu820Glyfs) http://identifiers.org/clinvar/3246 ^@ NM_007171.3(POMT1):c.1770G>C (p.Gln590His) http://identifiers.org/clinvar/3293 ^@ NM_000268.3(NF2):c.1219C>T (p.Gln407Ter) http://identifiers.org/clinvar/3338 ^@ NM_000348.3(SRD5A2):c.468_470delAAT (p.Met157del) http://identifiers.org/clinvar/10172 ^@ NM_000132.3(F8):c.398A>G (p.Tyr133Cys) http://identifiers.org/clinvar/10217 ^@ NM_000132.3(F8):c.1492G>A (p.Gly498Arg) http://identifiers.org/clinvar/10262 ^@ F8, 2-BP DEL, GA http://identifiers.org/clinvar/10307 ^@ NM_000132.3(F8):c.6263C>T (p.Ser2088Phe) http://identifiers.org/clinvar/10352 ^@ NM_000132.3(F8):c.104A>G (p.Tyr35Cys) http://identifiers.org/clinvar/10401 ^@ NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) http://identifiers.org/clinvar/10498 ^@ NM_000202.7(IDS):c.1403G>A (p.Arg468Gln) http://identifiers.org/clinvar/10543 ^@ NM_171998.3(RAB39B):c.21C>A (p.Tyr7Ter) http://identifiers.org/clinvar/10589 ^@ NM_000133.3(F9):c.655C>T (p.Gln219Ter) http://identifiers.org/clinvar/10633 ^@ F9, EX2-8DEL http://identifiers.org/clinvar/10724 ^@ NM_000169.2(GLA):c.101A>G (p.Asn34Ser) http://identifiers.org/clinvar/10814 ^@ PHEX, IVS1AS, G-A, -1 http://identifiers.org/clinvar/10905 ^@ NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile) http://identifiers.org/clinvar/10950 ^@ NM_000475.4(NR0B1):c.1107G>A (p.Trp369Ter) http://identifiers.org/clinvar/10997 ^@ OTC, IVS7DS, A-G, +3 http://identifiers.org/clinvar/11040 ^@ NM_001399.4(EDA):c.1045G>A (p.Ala349Thr) http://identifiers.org/clinvar/11414 ^@ FOXP3, 1-BP DEL http://identifiers.org/clinvar/11464 ^@ IKBKG, IVS8, -1, G-A http://identifiers.org/clinvar/11516 ^@ NM_001011658.3(TRAPPC2):c.238+4T>C http://identifiers.org/clinvar/11566 ^@ NM_022977.2(ACSL4):c.1124C>T (p.Pro375Leu) http://identifiers.org/clinvar/11616 ^@ CACNA1F, 1-BP INS, 991C http://identifiers.org/clinvar/11666 ^@ NM_004586.2(RPS6KA3):c.803T>C (p.Phe268Ser) http://identifiers.org/clinvar/11717 ^@ NM_000686.4(AGTR2):c.402delT (p.Phe134Leufs) http://identifiers.org/clinvar/11768 ^@ NM_001110556.1(FLNA):c.5182G>T (p.Gly1728Cys) http://identifiers.org/clinvar/11819 ^@ NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) http://identifiers.org/clinvar/11869 ^@ NM_000137.2(FAH):c.1009G>A (p.Gly337Ser) http://identifiers.org/clinvar/11919 ^@ NM_000203.4(IDUA):c.1469T>C (p.Leu490Pro) http://identifiers.org/clinvar/11969 ^@ NM_000108.4(DLD):c.1178T>C (p.Ile393Thr) http://identifiers.org/clinvar/12021 ^@ PCCA, 9-BP DEL, 1771IVS, -2 http://identifiers.org/clinvar/12071 ^@ F7, THR359MET http://identifiers.org/clinvar/12121 ^@ NM_000204.4(CFI):c.1420C>T (p.Arg474Ter) http://identifiers.org/clinvar/12174 ^@ CYP21A2, GLY424SER http://identifiers.org/clinvar/12226 ^@ ATP6V1B1, 1-BP DEL http://identifiers.org/clinvar/12277 ^@ NM_000463.2(UGT1A1):c.864+1G>C http://identifiers.org/clinvar/12329 ^@ NM_199292.2(TH):c.826A>C (p.Thr276Pro) http://identifiers.org/clinvar/12380 ^@ NM_000546.5(TP53):c.475_481dupGCCATGG (p.Ala161Glyfs) http://identifiers.org/clinvar/13179 ^@ NM_000322.4(PRPH2):c.136C>T (p.Arg46Ter) http://identifiers.org/clinvar/13230 ^@ BCHE, GLY115ASP AND IVS3AS, T-C, -14 http://identifiers.org/clinvar/13281 ^@ NM_000141.4(FGFR2):c.870G>C (p.Trp290Cys) http://identifiers.org/clinvar/13332 ^@ NM_002834.4(PTPN11):c.1504T>A (p.Ser502Thr) http://identifiers.org/clinvar/13382 ^@ NM_000207.2(INS):c.266G>T (p.Arg89Leu) http://identifiers.org/clinvar/13437 ^@ NM_000371.3(TTR):c.133G>A (p.Ala45Thr) http://identifiers.org/clinvar/13538 ^@ CD36, IVS3 (TG)12 http://identifiers.org/clinvar/37820 ^@ NM_000059.3(BRCA2):c.3158T>G (p.Leu1053Ter) http://identifiers.org/clinvar/37925 ^@ NM_000059.3(BRCA2):c.476-3C>T http://identifiers.org/clinvar/37979 ^@ NM_000059.3(BRCA2):c.5614A>T (p.Lys1872Ter) http://identifiers.org/clinvar/38030 ^@ NM_000059.3(BRCA2):c.6269A>G (p.His2090Arg) http://identifiers.org/clinvar/38084 ^@ NM_000059.3(BRCA2):c.7102T>G (p.Leu2368Val) http://identifiers.org/clinvar/38134 ^@ NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) http://identifiers.org/clinvar/38184 ^@ NM_000059.3(BRCA2):c.8755-9T>A http://identifiers.org/clinvar/38234 ^@ NM_000059.3(BRCA2):c.9377A>G (p.Gln3126Arg) http://identifiers.org/clinvar/38295 ^@ NC_000001.11:g.219817461_219918599del101139 http://identifiers.org/clinvar/38351 ^@ NM_002437.4(MPV17):c.262A>G (p.Lys88Glu) http://identifiers.org/clinvar/38408 ^@ NM_018713.2(SLC30A10):c.500T>C (p.Phe167Ser) http://identifiers.org/clinvar/38497 ^@ NM_000492.3(CFTR):c.2657+5G>A http://identifiers.org/clinvar/38733 ^@ NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) http://identifiers.org/clinvar/38786 ^@ ins10-15kb(intron47);del~40kb3'toCOL4A5 http://identifiers.org/clinvar/38910 ^@ NM_001039958.1(MESP2):c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly) http://identifiers.org/clinvar/38960 ^@ NM_001457.3(FLNB):c.4835G>A (p.Gly1612Asp) http://identifiers.org/clinvar/39012 ^@ NM_016938.4(EFEMP2):c.377A>T (p.Glu126Val) http://identifiers.org/clinvar/39062 ^@ NM_024312.4(GNPTAB):c.2867A>G (p.His956Arg) http://identifiers.org/clinvar/39119 ^@ NM_198253.2(TERT):c.3039C>T (p.His1013=) http://identifiers.org/clinvar/39169 ^@ NM_198578.3(LRRK2):c.3647A>G (p.His1216Arg) http://identifiers.org/clinvar/39219 ^@ NM_198578.3(LRRK2):c.6091A>T (p.Thr2031Ser) http://identifiers.org/clinvar/39270 ^@ NM_207352.3(CYP4V2):c.761A>G (p.His254Arg) http://identifiers.org/clinvar/39432 ^@ NM_001558.3(IL10RA):c.301C>T (p.Arg101Trp) http://identifiers.org/clinvar/39483 ^@ HADH, EX1DEL http://identifiers.org/clinvar/39534 ^@ NM_000359.2(TGM1):c.1923_1927+2delGGCCTGT http://identifiers.org/clinvar/39584 ^@ NM_003000.2(SDHB):c.143A>T (p.Asp48Val) http://identifiers.org/clinvar/39636 ^@ NM_017570.4(OPLAH):c.3265G>A (p.Val1089Ile) http://identifiers.org/clinvar/242678 ^@ NM_005458.7(GABBR2):c.1236+11101G= http://identifiers.org/clinvar/40983 ^@ NM_000084.4(CLCN5):c.1639T>G (p.Trp547Gly) http://identifiers.org/clinvar/41041 ^@ NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp) http://identifiers.org/clinvar/41097 ^@ NM_003611.2(OFD1):c.2261-?_2387+?del http://identifiers.org/clinvar/41153 ^@ NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs) http://identifiers.org/clinvar/41204 ^@ NM_003977.3(AIP):c.769A>G (p.Ile257Val) http://identifiers.org/clinvar/51470 ^@ NM_000059.3(BRCA2):c.3455T>G (p.Leu1152Ter) http://identifiers.org/clinvar/51521 ^@ NM_000059.3(BRCA2):c.3772delA (p.Ile1258Terfs) http://identifiers.org/clinvar/51573 ^@ NM_000059.3(BRCA2):c.3958G>T (p.Glu1320Ter) http://identifiers.org/clinvar/51623 ^@ NM_000059.3(BRCA2):c.4271C>G (p.Ser1424Cys) http://identifiers.org/clinvar/51675 ^@ NM_000059.3(BRCA2):c.4566G>T (p.Leu1522Phe) http://identifiers.org/clinvar/51727 ^@ NM_000059.3(BRCA2):c.4849A>C (p.Ser1617Arg) http://identifiers.org/clinvar/51779 ^@ NM_000059.3(BRCA2):c.5146_5149delTATG (p.Tyr1716Lysfs) http://identifiers.org/clinvar/51830 ^@ NM_000059.3(BRCA2):c.5254C>T (p.His1752Tyr) http://identifiers.org/clinvar/51883 ^@ NM_000059.3(BRCA2):c.5580_5584delAAAAG (p.Lys1860Asnfs) http://identifiers.org/clinvar/51935 ^@ NM_000059.3(BRCA2):c.5778_5779delTG (p.Ser1926Argfs) http://identifiers.org/clinvar/51986 ^@ NM_000059.3(BRCA2):c.6001delT (p.Ser2001Leufs) http://identifiers.org/clinvar/52037 ^@ NM_000059.3(BRCA2):c.6235delG (p.Val2079Cysfs) http://identifiers.org/clinvar/52090 ^@ NM_000059.3(BRCA2):c.6420_6421insA (p.Gly2141Argfs) http://identifiers.org/clinvar/52142 ^@ NM_000059.3(BRCA2):c.6637T>C (p.Ser2213Pro) http://identifiers.org/clinvar/52193 ^@ NM_000059.3(BRCA2):c.681+4A>G http://identifiers.org/clinvar/52244 ^@ NM_000059.3(BRCA2):c.7008-20A>G http://identifiers.org/clinvar/52295 ^@ NM_000059.3(BRCA2):c.7234_7235insG (p.Thr2412Serfs) http://identifiers.org/clinvar/52345 ^@ NM_000059.3(BRCA2):c.7505G>A (p.Arg2502His) http://identifiers.org/clinvar/52396 ^@ NM_000059.3(BRCA2):c.7738C>T (p.Gln2580Ter) http://identifiers.org/clinvar/52446 ^@ NM_000059.3(BRCA2):c.7954delG (p.Val2652Cysfs) http://identifiers.org/clinvar/52496 ^@ NM_000059.3(BRCA2):c.8070_8071dupTT (p.Ser2691Phefs) http://identifiers.org/clinvar/52547 ^@ NM_000059.3(BRCA2):c.8324T>G (p.Met2775Arg) http://identifiers.org/clinvar/52597 ^@ NM_000059.3(BRCA2):c.8474delC (p.Ala2825Aspfs) http://identifiers.org/clinvar/52648 ^@ NM_000059.3(BRCA2):c.8644A>T (p.Lys2882Ter) http://identifiers.org/clinvar/52699 ^@ NM_000059.3(BRCA2):c.8912dupA (p.Leu2972Valfs) http://identifiers.org/clinvar/52750 ^@ NM_000059.3(BRCA2):c.9100dupC (p.Gln3034Profs) http://identifiers.org/clinvar/52801 ^@ NM_000059.3(BRCA2):c.9275_9276delAT (p.Tyr3092Phefs) http://identifiers.org/clinvar/54366 ^@ NM_007294.3(BRCA1):c.1831delC (p.Leu611Terfs) http://identifiers.org/clinvar/102579 ^@ NM_000277.1(PAH):c.1249T>C (p.Tyr417His) http://identifiers.org/clinvar/102633 ^@ NM_000277.1(PAH):c.212G>A (p.Arg71His) http://identifiers.org/clinvar/102686 ^@ NM_000277.1(PAH):c.464G>A (p.Arg155His) http://identifiers.org/clinvar/102736 ^@ NM_000277.1(PAH):c.561G>A (p.Trp187Ter) http://identifiers.org/clinvar/102787 ^@ NM_000277.1(PAH):c.692C>T (p.Ser231Phe) http://identifiers.org/clinvar/102837 ^@ NM_000277.1(PAH):c.796A>G (p.Thr266Ala) http://identifiers.org/clinvar/102889 ^@ NM_000277.1(PAH):c.907T>C (p.Ser303Pro) http://identifiers.org/clinvar/102947 ^@ NM_001282358.1(NLRX1):c.-54C>T http://identifiers.org/clinvar/103047 ^@ NM_001174081.2(NLRP2):c.1020C>A (p.Ala340=) http://identifiers.org/clinvar/103097 ^@ NM_006092.2(NOD1):c.2285+118C>T http://identifiers.org/clinvar/103147 ^@ NM_024618.3(NLRX1):c.70+255G>A http://identifiers.org/clinvar/103197 ^@ NM_032206.4(NLRC5):c.4500-121G>A http://identifiers.org/clinvar/103247 ^@ NM_138329.2(NLRP6):c.30-20C>G http://identifiers.org/clinvar/103297 ^@ NM_153447.4(NLRP5):c.622+253G>A http://identifiers.org/clinvar/103347 ^@ NM_176822.3(NLRP14):c.2805-162C>T http://identifiers.org/clinvar/111221 ^@ NM_000416.2(IFNGR1):c.864C>G (p.Ile288Met) http://identifiers.org/clinvar/111271 ^@ NM_006068.4(TLR6):c.382C>G (p.Leu128Val) http://identifiers.org/clinvar/120233 ^@ NM_017637.5(BNC2):c.1947C>T (p.Thr649=) http://identifiers.org/clinvar/120283 ^@ NM_000277.1(PAH):c.632C>T (p.Pro211Leu) http://identifiers.org/clinvar/125440 ^@ NM_033419.4(PGAP3):c.314C>G (p.Pro105Arg) http://identifiers.org/clinvar/125504 ^@ NM_007294.3(BRCA1):c.1561_1562delGCinsTA (p.Ala521Ter) http://identifiers.org/clinvar/125575 ^@ NM_007294.3(BRCA1):c.2586_2593delGGTTTCAA (p.Val863Alafs) http://identifiers.org/clinvar/125663 ^@ NM_007294.3(BRCA1):c.301+10G>A http://identifiers.org/clinvar/125724 ^@ NM_007294.3(BRCA1):c.4676-11A>G http://identifiers.org/clinvar/125798 ^@ U14680.1:n.5312+3_del13 http://identifiers.org/clinvar/125862 ^@ NM_007294.3(BRCA1):c.442-104G>C http://identifiers.org/clinvar/125925 ^@ NM_000059.3(BRCA2):c.10095delCins11 (p.?) http://identifiers.org/clinvar/126296 ^@ NM_001173991.2(TMEM216):c.264G>A (p.Pro88=) http://identifiers.org/clinvar/126347 ^@ NM_003070.4(SMARCA2):c.4590C>T (p.Ser1530=) http://identifiers.org/clinvar/126403 ^@ NM_015474.3:c.(Exons12-16del) http://identifiers.org/clinvar/127485 ^@ NM_000057.3(BLM):c.2362C>A (p.Leu788Ile) http://identifiers.org/clinvar/127535 ^@ NM_000136.2(FANCC):c.1604G>A (p.Arg535His) http://identifiers.org/clinvar/127585 ^@ NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) http://identifiers.org/clinvar/127636 ^@ NM_000251.2(MSH2):c.1847C>G (p.Pro616Arg) http://identifiers.org/clinvar/127695 ^@ NM_000314.6(PTEN):c.892C>G (p.Gln298Glu) http://identifiers.org/clinvar/127745 ^@ NM_000465.3(BARD1):c.709C>G (p.Gln237Glu) http://identifiers.org/clinvar/127796 ^@ NM_000535.6(PMS2):c.823C>T (p.Gln275Ter) http://identifiers.org/clinvar/159474 ^@ NM_002547.2(OPHN1):c.1749A>C (p.Ala583=) http://identifiers.org/clinvar/160345 ^@ NM_003868.2(FGF16):c.275_293dup19 (p.Ser98Argfs) http://identifiers.org/clinvar/160805 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 http://identifiers.org/clinvar/160856 ^@ GRCh38/hg38 6p25.3(chr6:163083-918985)x1 http://identifiers.org/clinvar/160908 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1 http://identifiers.org/clinvar/160960 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3 http://identifiers.org/clinvar/178673 ^@ NM_001035.2(RYR2):c.3067-16_3067-15delCT http://identifiers.org/clinvar/179430 ^@ NM_001035.2(RYR2):c.2104G>A (p.Gly702Arg) http://identifiers.org/clinvar/178122 ^@ NM_001035.2(RYR2):c.6738G>A (p.Ser2246=) http://identifiers.org/clinvar/178172 ^@ NM_133378.4(TTN):c.82523C>T (p.Thr27508Met) http://identifiers.org/clinvar/179680 ^@ NM_133378.4(TTN):c.71441A>C (p.Asn23814Thr) http://identifiers.org/clinvar/178572 ^@ NM_206933.2(USH2A):c.12088C>T (p.Leu4030=) http://identifiers.org/clinvar/165896 ^@ NM_133378.4(TTN):c.57665T>C (p.Ile19222Thr) http://identifiers.org/clinvar/165770 ^@ NM_133378.4(TTN):c.79812delC (p.Tyr26605Thrfs) http://identifiers.org/clinvar/179330 ^@ NM_133378.4(TTN):c.78996C>T (p.Asn26332=) http://identifiers.org/clinvar/178222 ^@ NM_133378.4(TTN):c.32128G>A (p.Val10710Ile) http://identifiers.org/clinvar/179580 ^@ NM_133378.4(TTN):c.19110A>G (p.Leu6370=) http://identifiers.org/clinvar/179180 ^@ NM_133378.4(TTN):c.34106C>T (p.Ala11369Val) http://identifiers.org/clinvar/166095 ^@ NM_133378.4(TTN):c.31685C>T (p.Pro10562Leu) http://identifiers.org/clinvar/178272 ^@ NM_133378.4(TTN):c.4153G>A (p.Ala1385Thr) http://identifiers.org/clinvar/164845 ^@ NM_194248.2(OTOF):c.4342C>T (p.Arg1448Cys) http://identifiers.org/clinvar/165978 ^@ NM_001256850.1(TTN):c.49237G>C (p.Val16413Leu) http://identifiers.org/clinvar/165398 ^@ NM_003242.5(TGFBR2):c.1580C>T (p.Ala527Val) http://identifiers.org/clinvar/177770 ^@ NM_004415.3(DSP):c.2091A= (p.Gly697=) http://identifiers.org/clinvar/179980 ^@ NM_004415.3(DSP):c.2920delA (p.Thr974Leufs) http://identifiers.org/clinvar/179280 ^@ NM_198056.2(SCN5A):c.5609C>A (p.Ala1870Asp) http://identifiers.org/clinvar/165500 ^@ NM_003280.2(TNNC1):c.56-9T>C http://identifiers.org/clinvar/179730 ^@ NM_000441.1(SLC26A4):c.1253G>A (p.Gly418Glu) http://identifiers.org/clinvar/177971 ^@ NM_005228.4(EGFR):c.2232_2252del21insAAAGTT (p.Glu746_Thr751delinsLeu) http://identifiers.org/clinvar/177820 ^@ NM_016203.3(PRKAG2):c.1508A>G (p.Gln503Arg) http://identifiers.org/clinvar/177920 ^@ NM_005228.4(EGFR):c.2236_2252del17insAT (p.Glu746_Thr751delinsIle) http://identifiers.org/clinvar/177618 ^@ NM_005228.4(EGFR):c.2253_2276del24 (p.Ser752_Ile759del) http://identifiers.org/clinvar/198467 ^@ NM_001159702.2(FHL1):c.939G>A (p.Thr313=) http://identifiers.org/clinvar/198521 ^@ NM_004727.2(SLC24A1):c.2778C>T (p.Pro926=) http://identifiers.org/clinvar/198572 ^@ NM_001123383.1(BCOR):c.3446C>T (p.Ala1149Val) http://identifiers.org/clinvar/198624 ^@ NM_173660.4(DOK7):c.994C>T (p.Arg332Cys) http://identifiers.org/clinvar/198675 ^@ NM_033071.3(SYNE1):c.12888C>T (p.Ile4296=) http://identifiers.org/clinvar/198728 ^@ NM_000425.4(L1CAM):c.924C>T (p.Gly308=) http://identifiers.org/clinvar/198782 ^@ NM_003119.3(SPG7):c.1083G>A (p.Ala361=) http://identifiers.org/clinvar/198835 ^@ NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) http://identifiers.org/clinvar/198889 ^@ NM_018297.3(NGLY1):c.1260+7T>G http://identifiers.org/clinvar/198942 ^@ NM_033071.3(SYNE1):c.15355C>G (p.Gln5119Glu) http://identifiers.org/clinvar/198993 ^@ NM_000153.3(GALC):c.913A>G (p.Ile305Val) http://identifiers.org/clinvar/199097 ^@ NM_004560.3(ROR2):c.*16G>A http://identifiers.org/clinvar/199149 ^@ NM_018328.4(MBD5):c.692T>C (p.Ile231Thr) http://identifiers.org/clinvar/199200 ^@ NM_201253.2(CRB1):c.3383delT (p.Ile1128Thrfs) http://identifiers.org/clinvar/199255 ^@ NM_001098398.1(COPA):c.728A>G (p.Asp243Gly) http://identifiers.org/clinvar/201410 ^@ NM_001035.2(RYR2):c.12271_12272delGCinsAG (p.Ala4091Arg) http://identifiers.org/clinvar/199704 ^@ NM_000090.3(COL3A1):c.3525+19G>A http://identifiers.org/clinvar/201523 ^@ NM_198056.2(SCN5A):c.4981G>A (p.Gly1661Arg) http://identifiers.org/clinvar/201464 ^@ NM_198056.2(SCN5A):c.1891-1G>A http://identifiers.org/clinvar/201577 ^@ NM_198056.2(SCN5A):c.1880C>T (p.Pro627Leu) http://identifiers.org/clinvar/199868 ^@ NM_004415.3(DSP):c.2360A>C (p.Tyr787Ser) http://identifiers.org/clinvar/199926 ^@ NM_004415.3(DSP):c.6398dupG (p.Val2134Cysfs) http://identifiers.org/clinvar/200329 ^@ NM_000238.3(KCNH2):c.1226T>A (p.Val409Glu) http://identifiers.org/clinvar/200209 ^@ NM_000238.3(KCNH2):c.342C>T (p.Pro114=) http://identifiers.org/clinvar/200092 ^@ NM_000138.4(FBN1):c.6707A>T (p.Tyr2236Phe) http://identifiers.org/clinvar/200040 ^@ NM_000138.4(FBN1):c.4210G>A (p.Asp1404Asn) http://identifiers.org/clinvar/200153 ^@ NM_000138.4(FBN1):c.2569_2570delGT (p.Val857Hisfs) http://identifiers.org/clinvar/199984 ^@ NM_000138.4(FBN1):c.1914A>C (p.Glu638Asp) http://identifiers.org/clinvar/199758 ^@ NM_024422.4(DSC2):c.23G>T (p.Gly8Val) http://identifiers.org/clinvar/199814 ^@ NM_001943.4(DSG2):c.1959G>A (p.Met653Ile) http://identifiers.org/clinvar/201636 ^@ NM_001103.3(ACTN2):c.926C>T (p.Pro309Leu) http://identifiers.org/clinvar/201911 ^@ NM_144573.3(NEXN):c.-52-16T>C http://identifiers.org/clinvar/202083 ^@ NM_001134363.2(RBM20):c.1909_1911delAGT (p.Ser637del) http://identifiers.org/clinvar/201692 ^@ NM_003476.4(CSRP3):c.86G>A (p.Ser29Asn) http://identifiers.org/clinvar/202023 ^@ NM_004572.3(PKP2):c.2274delG (p.Asn759Ilefs) http://identifiers.org/clinvar/201964 ^@ NM_004572.3(PKP2):c.1171-17A>G http://identifiers.org/clinvar/202139 ^@ NM_003276.2(TMPO):c.350A>G (p.Asn117Ser) http://identifiers.org/clinvar/201802 ^@ NM_020433.4(JPH2):c.1582G>A (p.Glu528Lys) http://identifiers.org/clinvar/201746 ^@ NM_004006.2(DMD):c.3028G>C (p.Ala1010Pro) http://identifiers.org/clinvar/202194 ^@ NM_020800.2(IFT80):c.869A>G (p.Asn290Ser) http://identifiers.org/clinvar/202423 ^@ NM_001256850.1(TTN):c.83914A>T (p.Lys27972Ter) http://identifiers.org/clinvar/202478 ^@ NM_001256850.1(TTN):c.77793_77794delTCinsA (p.Pro25933Glnfs) http://identifiers.org/clinvar/202888 ^@ NM_001256850.1(TTN):c.73462G>T (p.Asp24488Tyr) http://identifiers.org/clinvar/202838 ^@ NM_001256850.1(TTN):c.67208G>A (p.Gly22403Asp) http://identifiers.org/clinvar/231166 ^@ NM_000038.5(APC):c.4627A>G (p.Lys1543Glu) http://identifiers.org/clinvar/232756 ^@ NM_005732.3(RAD50):c.2738G>A (p.Ser913Asn) http://identifiers.org/clinvar/233656 ^@ NM_000535.6(PMS2):c.851C>G (p.Ser284Ter) http://identifiers.org/clinvar/233056 ^@ NM_000535.6(PMS2):c.455C>G (p.Pro152Arg) http://identifiers.org/clinvar/232906 ^@ NM_000535.6(PMS2):c.170A>C (p.Lys57Thr) http://identifiers.org/clinvar/230316 ^@ NM_002485.4(NBN):c.1622C>G (p.Ala541Gly) http://identifiers.org/clinvar/233006 ^@ NM_002485.4(NBN):c.936G>C (p.Leu312Phe) http://identifiers.org/clinvar/230216 ^@ NM_004329.2(BMPR1A):c.393C>A (p.Asn131Lys) http://identifiers.org/clinvar/230916 ^@ NM_004329.2(BMPR1A):c.1006T>C (p.Tyr336His) http://identifiers.org/clinvar/233456 ^@ NM_000314.6(PTEN):c.64G>C (p.Asp22His) http://identifiers.org/clinvar/231366 ^@ NM_000051.3(ATM):c.119_122delTTAA (p.Ile40Asnfs) http://identifiers.org/clinvar/233758 ^@ NM_000051.3(ATM):c.3576+1G>A http://identifiers.org/clinvar/230366 ^@ NM_000051.3(ATM):c.7357C>T (p.Arg2453Cys) http://identifiers.org/clinvar/230416 ^@ NM_000051.3(ATM):c.8246A>T (p.Lys2749Ile) http://identifiers.org/clinvar/233808 ^@ NM_000051.3(ATM):c.8671+4A>G http://identifiers.org/clinvar/233606 ^@ NM_005591.3(MRE11):c.1165G>A (p.Val389Ile) http://identifiers.org/clinvar/230566 ^@ NM_005591.3(MRE11):c.1145G>C (p.Ser382Thr) http://identifiers.org/clinvar/231466 ^@ NM_000059.3(BRCA2):c.7A>G (p.Ile3Val) http://identifiers.org/clinvar/231216 ^@ NM_000059.3(BRCA2):c.3249T>C (p.Asn1083=) http://identifiers.org/clinvar/230866 ^@ NM_000059.3(BRCA2):c.4845C>T (p.Leu1615=) http://identifiers.org/clinvar/230716 ^@ NM_000059.3(BRCA2):c.5674G>T (p.Gly1892Cys) http://identifiers.org/clinvar/230766 ^@ NM_000059.3(BRCA2):c.5694T>G (p.Asp1898Glu) http://identifiers.org/clinvar/233156 ^@ NM_000059.3(BRCA2):c.8102C>G (p.Ser2701Cys) http://identifiers.org/clinvar/230066 ^@ NM_000059.3(BRCA2):c.9530A>G (p.Glu3177Gly) http://identifiers.org/clinvar/234009 ^@ NM_024675.3(PALB2):c.3475T>C (p.Trp1159Arg) http://identifiers.org/clinvar/233356 ^@ NM_024675.3(PALB2):c.3035C>G (p.Thr1012Ser) http://identifiers.org/clinvar/232856 ^@ NM_024675.3(PALB2):c.170G>T (p.Cys57Phe) http://identifiers.org/clinvar/230166 ^@ NM_004360.4(CDH1):c.595A>T (p.Thr199Ser) http://identifiers.org/clinvar/231066 ^@ NM_004360.4(CDH1):c.2038A>G (p.Thr680Ala) http://identifiers.org/clinvar/231766 ^@ NM_144997.5(FLCN):c.81C>T (p.Ala27=) http://identifiers.org/clinvar/231266 ^@ NM_001042492.2(NF1):c.2250A>G (p.Thr750=) http://identifiers.org/clinvar/232806 ^@ NM_001042492.2(NF1):c.6310T>C (p.Phe2104Leu) http://identifiers.org/clinvar/231316 ^@ NM_002878.3(RAD51D):c.379G>C (p.Gly127Arg) http://identifiers.org/clinvar/230266 ^@ NM_002878.3(RAD51D):c.164G>A (p.Arg55Gln) http://identifiers.org/clinvar/230516 ^@ NM_007294.3(BRCA1):c.4650A>G (p.Thr1550=) http://identifiers.org/clinvar/230616 ^@ NM_007294.3(BRCA1):c.3798C>A (p.Ser1266Arg) http://identifiers.org/clinvar/230816 ^@ NM_007294.3(BRCA1):c.2289delT (p.Val764Terfs) http://identifiers.org/clinvar/231016 ^@ NM_058216.2(RAD51C):c.948T>C (p.His316=) http://identifiers.org/clinvar/233959 ^@ NM_032043.2(BRIP1):c.130T>C (p.Leu44=) http://identifiers.org/clinvar/230666 ^@ NM_000546.5(TP53):c.285T>G (p.Ser95=) http://identifiers.org/clinvar/230966 ^@ NM_007194.3(CHEK2):c.1570G>A (p.Glu524Lys) http://identifiers.org/clinvar/233306 ^@ NM_007194.3(CHEK2):c.1300G>A (p.Val434Met) http://identifiers.org/clinvar/230116 ^@ NM_007194.3(CHEK2):c.387G>A (p.Leu129=) http://identifiers.org/clinvar/235073 ^@ NM_133378.4(TTN):c.77735delG (p.Gly25912Valfs) http://identifiers.org/clinvar/235023 ^@ NM_000256.3(MYBPC3):c.851+1G>A http://identifiers.org/clinvar/235208 ^@ NM_001029891.2(PGAM4):c.649G>A (p.Val217Ile) http://identifiers.org/clinvar/239455 ^@ NM_003001.3(SDHC):c.405+23C>T http://identifiers.org/clinvar/241495 ^@ NM_024529.4(CDC73):c.33C>T (p.Tyr11=) http://identifiers.org/clinvar/239555 ^@ NM_003738.4(PTCH2):c.1864C>T (p.His622Tyr) http://identifiers.org/clinvar/239102 ^@ NM_002156.4(HSPD1):c.1360T>C (p.Leu454=) http://identifiers.org/clinvar/239805 ^@ NM_004304.4(ALK):c.2451C>T (p.Gly817=) http://identifiers.org/clinvar/242195 ^@ NM_198056.2(SCN5A):c.3512G>A (p.Gly1171Asp) http://identifiers.org/clinvar/240055 ^@ NM_004656.3(BAP1):c.2057-4G>T http://identifiers.org/clinvar/241995 ^@ NM_152778.2(MFSD8):c.1429G>A (p.Ala477Thr) http://identifiers.org/clinvar/240306 ^@ NM_006206.4(PDGFRA):c.1401C>A (p.Asn467Lys) http://identifiers.org/clinvar/242245 ^@ NM_198253.2(TERT):c.810C>T (p.Phe270=) http://identifiers.org/clinvar/239505 ^@ NM_003122.4(SPINK1):c.129_131dupTGA (p.Asp44_Pro45insAsp) http://identifiers.org/clinvar/239655 ^@ NM_004168.3(SDHA):c.1661G>A (p.Arg554Gln) http://identifiers.org/clinvar/241845 ^@ NM_138694.3(PKHD1):c.3876C>T (p.Thr1292=) http://identifiers.org/clinvar/261794 ^@ NM_025074.6(FRAS1):c.10153T>G (p.Tyr3385Asp) http://identifiers.org/clinvar/260355 ^@ NM_014208.3(DSPP):c.136-29T>C http://identifiers.org/clinvar/260055 ^@ NM_006846.3(SPINK5):c.3009T>C (p.Gly1003=) http://identifiers.org/clinvar/256815 ^@ NM_000806.5(GABRA1):c.1059+8C>A http://identifiers.org/clinvar/257365 ^@ NM_001080479.2(ARHGEF28):c.267G>A (p.Val89=) http://identifiers.org/clinvar/262194 ^@ NM_033071.3(SYNE1):c.25314+33_25314+36delAACA http://identifiers.org/clinvar/262394 ^@ NM_138694.3(PKHD1):c.2243C>T (p.Ala748Val) http://identifiers.org/clinvar/259354 ^@ NM_004370.5(COL12A1):c.8650-19T>A http://identifiers.org/clinvar/259604 ^@ NM_004999.3(MYO6):c.1144G>A (p.Asp382Asn) http://identifiers.org/clinvar/257515 ^@ NM_001127500.2(MET):c.1392+14G>A http://identifiers.org/clinvar/261344 ^@ NM_020632.2(ATP6V0A4):c.2035G>T (p.Asp679Tyr) http://identifiers.org/clinvar/257265 ^@ NM_001040167.1(LFNG):c.481+3G>A http://identifiers.org/clinvar/260255 ^@ NM_012431.2(SEMA3E):c.603G>T (p.Ala201=) http://identifiers.org/clinvar/261294 ^@ NM_020476.2(ANK1):c.1782C>A (p.Ser594=) http://identifiers.org/clinvar/260405 ^@ NM_014425.4(INVS):c.1131G>A (p.Leu377=) http://identifiers.org/clinvar/259805 ^@ NM_005592.3(MUSK):c.1931T>C (p.Val644Ala) http://identifiers.org/clinvar/260505 ^@ NM_015046.5(SETX):c.4660T>G (p.Cys1554Gly) http://identifiers.org/clinvar/262444 ^@ NM_139025.4(ADAMTS13):c.3250-19T>C http://identifiers.org/clinvar/261194 ^@ NM_019892.5(INPP5E):c.1374T>C (p.Tyr458=) http://identifiers.org/clinvar/262544 ^@ NM_144966.5(FREM1):c.5859T>C (p.Val1953=) http://identifiers.org/clinvar/260205 ^@ NM_012144.3(DNAI1):c.501+16G>A http://identifiers.org/clinvar/262094 ^@ NM_032634.3(PIGO):c.1120-15C>A http://identifiers.org/clinvar/259554 ^@ NM_004817.3(TJP2):c.2992-19G>A http://identifiers.org/clinvar/262844 ^@ NM_173551.4(ANKS6):c.1740C>T (p.Asn580=) http://identifiers.org/clinvar/260455 ^@ NM_014915.2(ANKRD26):c.1207+15A>G http://identifiers.org/clinvar/261394 ^@ NM_020975.4(RET):c.1668C>G (p.Ser556=) http://identifiers.org/clinvar/261544 ^@ NM_022124.5(CDH23):c.2359_2382del24 (p.Leu787_Asp794del) http://identifiers.org/clinvar/259454 ^@ NM_004621.5(TRPC6):c.1211C>T (p.Ala404Val) http://identifiers.org/clinvar/259204 ^@ NM_003977.3(AIP):c.132C>T (p.Asp44=) http://identifiers.org/clinvar/259655 ^@ NM_005169.3(PHOX2A):c.156C>T (p.Leu52=) http://identifiers.org/clinvar/261244 ^@ NM_020376.3(PNPLA2):c.696+15G>A http://identifiers.org/clinvar/261694 ^@ NM_024312.4(GNPTAB):c.3335+14G>A http://identifiers.org/clinvar/262244 ^@ NM_052845.3(MMAB):c.135-23T>C http://identifiers.org/clinvar/256765 ^@ NM_000719.6(CACNA1C):c.1217+11C>T http://identifiers.org/clinvar/256665 ^@ NM_000552.4(VWF):c.3379+13G>A http://identifiers.org/clinvar/261844 ^@ NM_025114.3(CEP290):c.4302+15T>C http://identifiers.org/clinvar/257115 ^@ NM_001024858.2(SPTB):c.4222G>C (p.Gly1408Arg) http://identifiers.org/clinvar/261494 ^@ NM_022067.3(VIPAS39):c.94-46G>T http://identifiers.org/clinvar/262894 ^@ NM_174916.2(UBR1):c.4642A>G (p.Thr1548Ala) http://identifiers.org/clinvar/332500 ^@ NM_002148.3(HOXD10):c.*233T>A http://identifiers.org/clinvar/332850 ^@ NM_133378.4(TTN):c.40402A>C (p.Lys13468Gln) http://identifiers.org/clinvar/332550 ^@ NM_003659.3(AGPS):c.*1836_*1841delGTATAT http://identifiers.org/clinvar/332600 ^@ NM_003659.3(AGPS):c.*4996C>T http://identifiers.org/clinvar/335741 ^@ NM_000379.3(XDH):c.*1081A>G http://identifiers.org/clinvar/335091 ^@ NM_004369.3(COL6A3):c.*606A>T http://identifiers.org/clinvar/332750 ^@ NM_133378.4(TTN):c.76281C>T (p.Asn25427=) http://identifiers.org/clinvar/332800 ^@ NM_133378.4(TTN):c.59281G>A (p.Ala19761Thr) http://identifiers.org/clinvar/335341 ^@ NM_152783.4(D2HGDH):c.*503C>T http://identifiers.org/clinvar/336091 ^@ NM_022437.2(ABCG8):c.1785C>T (p.Phe595=) http://identifiers.org/clinvar/335441 ^@ NM_194248.2(OTOF):c.2992-14A>G http://identifiers.org/clinvar/333100 ^@ NM_000393.4(COL5A2):c.*1852T>C http://identifiers.org/clinvar/333150 ^@ NM_000393.4(COL5A2):c.552C>T (p.Pro184=) http://identifiers.org/clinvar/333200 ^@ NM_000534.4(PMS1):c.141T>C (p.Tyr47=) http://identifiers.org/clinvar/335691 ^@ NM_004304.4(ALK):c.3839C>T (p.Ala1280Val) http://identifiers.org/clinvar/335841 ^@ NM_014946.3(SPAST):c.*244_*247delTTAG http://identifiers.org/clinvar/335941 ^@ NM_000104.3(CYP1B1):c.*493G>A http://identifiers.org/clinvar/335991 ^@ NM_005633.3(SOS1):c.*1678C>A http://identifiers.org/clinvar/336398 ^@ NM_002354.2(EPCAM):c.-253G>C http://identifiers.org/clinvar/337337 ^@ NM_003896.3(ST3GAL5):c.415G>T (p.Val139Leu) http://identifiers.org/clinvar/334291 ^@ NM_014140.3(SMARCAL1):c.600G>A (p.Ser200=) http://identifiers.org/clinvar/334841 ^@ NM_025243.3(SLC19A3):c.*1925A>G http://identifiers.org/clinvar/335041 ^@ NM_002242.4(KCNJ13):c.*761C>T http://identifiers.org/clinvar/334741 ^@ NM_000092.4(COL4A4):c.-102+10C>G http://identifiers.org/clinvar/335141 ^@ NM_004369.3(COL6A3):c.1557C>T (p.Asp519=) http://identifiers.org/clinvar/335191 ^@ NM_004544.3(NDUFA10):c.*489A>G http://identifiers.org/clinvar/343077 ^@ NM_025265.3(TSEN2):c.845A>G (p.Asn282Ser) http://identifiers.org/clinvar/342288 ^@ NM_016247.3(IMPG2):c.*2790G>T http://identifiers.org/clinvar/334891 ^@ NM_004509.3(SP110):c.2048G>A (p.Gly683Asp) http://identifiers.org/clinvar/334941 ^@ NM_152383.4(DIS3L2):c.1809G>A (p.Glu603=) http://identifiers.org/clinvar/343177 ^@ NM_004637.5(RAB7A):c.*929A>T http://identifiers.org/clinvar/335391 ^@ NM_000182.4(HADHA):c.-37T>C http://identifiers.org/clinvar/343227 ^@ NM_052985.3(IFT122):c.-3G>A http://identifiers.org/clinvar/335641 ^@ NM_001029883.2(C2orf71):c.3529C>T (p.Arg1177Trp) http://identifiers.org/clinvar/335241 ^@ NM_004321.7(KIF1A):c.*1205G>A http://identifiers.org/clinvar/335291 ^@ NM_000030.2(AGXT):c.-46G>A http://identifiers.org/clinvar/343627 ^@ NM_001184.3(ATR):c.225C>T (p.Ile75=) http://identifiers.org/clinvar/343877 ^@ NM_004733.3(SLC33A1):c.1149-4A>G http://identifiers.org/clinvar/335541 ^@ NM_015636.3(EIF2B4):c.512A>C (p.Asp171Ala) http://identifiers.org/clinvar/343027 ^@ NM_000373.3(UMPS):c.*4278G>A http://identifiers.org/clinvar/344077 ^@ NM_001041.3(SI):c.1-15C>A http://identifiers.org/clinvar/335791 ^@ NM_000379.3(XDH):c.1184A>T (p.Lys395Met) http://identifiers.org/clinvar/354443 ^@ NM_004385.4(VCAN):c.7493G>T (p.Ser2498Ile) http://identifiers.org/clinvar/354593 ^@ NM_002397.4(MEF2C):c.-208delT http://identifiers.org/clinvar/354643 ^@ NM_000439.4(PCSK1):c.1650T>C (p.Asn550=) http://identifiers.org/clinvar/350796 ^@ NM_001999.3(FBN2):c.-262C>T http://identifiers.org/clinvar/350696 ^@ NM_032446.2(MEGF10):c.*1810C>T http://identifiers.org/clinvar/350746 ^@ NM_001999.3(FBN2):c.*372delT http://identifiers.org/clinvar/350896 ^@ NM_000358.2(TGFBI):c.*21A>G http://identifiers.org/clinvar/350846 ^@ NM_014402.4(UQCRQ):c.*334C>T http://identifiers.org/clinvar/351046 ^@ NM_001369.2(DNAH5):c.10556-15T>C http://identifiers.org/clinvar/350946 ^@ NM_017415.2(KLHL3):c.*2687C>T http://identifiers.org/clinvar/354993 ^@ NM_014028.3(OSTM1):c.-67G>T http://identifiers.org/clinvar/355043 ^@ NM_014845.5(FIG4):c.2096G>A (p.Arg699His) http://identifiers.org/clinvar/355144 ^@ NM_002667.4(PLN):c.*581C>T http://identifiers.org/clinvar/351246 ^@ NM_002109.5(HARS):c.-46A>G http://identifiers.org/clinvar/351346 ^@ NM_001018077.1(NR3C1):c.*946T>G http://identifiers.org/clinvar/358622 ^@ NM_014491.3(FOXP2):c.*229dupA http://identifiers.org/clinvar/351296 ^@ NM_005219.4(DIAPH1):c.1423G>A (p.Glu475Lys) http://identifiers.org/clinvar/351496 ^@ NM_054027.4(ANKH):c.*31A>G http://identifiers.org/clinvar/351596 ^@ NM_024577.3(SH3TC2):c.*19563_*19564dupTT http://identifiers.org/clinvar/351446 ^@ NM_054027.4(ANKH):c.*2511C>T http://identifiers.org/clinvar/358922 ^@ NM_018718.2(CEP41):c.*1579T>C http://identifiers.org/clinvar/355883 ^@ NM_033071.3(SYNE1):c.11843C>T (p.Ala3948Val) http://identifiers.org/clinvar/359322 ^@ NM_016203.3(PRKAG2):c.*1040dupT http://identifiers.org/clinvar/356133 ^@ NM_001080.3(ALDH5A1):c.610-5C>T http://identifiers.org/clinvar/359422 ^@ NM_022458.3(LMBR1):c.1111T>G (p.Phe371Val) http://identifiers.org/clinvar/356183 ^@ NM_001080.3(ALDH5A1):c.*2581T>C http://identifiers.org/clinvar/359472 ^@ NM_058246.3(DNAJB6):c.*699T>C http://identifiers.org/clinvar/356233 ^@ NM_000434.3(NEU1):c.486C>T (p.Ala162=) http://identifiers.org/clinvar/352054 ^@ NM_000112.3(SLC26A2):c.*1892dupT http://identifiers.org/clinvar/352104 ^@ NM_005211.3(CSF1R):c.*561C>T http://identifiers.org/clinvar/356433 ^@ NM_001014.4(RPS10):c.-47A>G http://identifiers.org/clinvar/352154 ^@ NM_005211.3(CSF1R):c.1237G>A (p.Gly413Ser) http://identifiers.org/clinvar/356533 ^@ NM_182548.3(LHFPL5):c.*509_*510insTCTC http://identifiers.org/clinvar/356633 ^@ NM_005943.5(MOCS1):c.*1191C>A http://identifiers.org/clinvar/352354 ^@ NM_000337.5(SGCD):c.*1618T>C http://identifiers.org/clinvar/356783 ^@ NM_000322.4(PRPH2):c.-116C>G http://identifiers.org/clinvar/356933 ^@ NM_006502.2(POLH):c.*1091T>A http://identifiers.org/clinvar/357133 ^@ NM_001024630.3(RUNX2):c.*2712delT http://identifiers.org/clinvar/360811 ^@ NM_005751.4(AKAP9):c.-107C>T http://identifiers.org/clinvar/357633 ^@ NM_183227.2(RAB23):c.*722T>C http://identifiers.org/clinvar/361261 ^@ NM_178857.5(RP1L1):c.4906G>A (p.Glu1636Lys) http://identifiers.org/clinvar/361462 ^@ NM_001715.2(BLK):c.-440G>A http://identifiers.org/clinvar/306316 ^@ NM_020376.3(PNPLA2):c.*596C>G http://identifiers.org/clinvar/299863 ^@ NM_021252.4(RAB18):c.*2974C>G http://identifiers.org/clinvar/299913 ^@ NM_020975.4(RET):c.*509A>G http://identifiers.org/clinvar/306517 ^@ NM_016156.5(MTMR2):c.*1226_*1228delCTT http://identifiers.org/clinvar/300113 ^@ NM_000242.2(MBL2):c.*2048A>G http://identifiers.org/clinvar/361061 ^@ NM_017890.4(VPS13B):c.4626C>G (p.Arg1542=) http://identifiers.org/clinvar/361111 ^@ NM_017890.4(VPS13B):c.*733A>T http://identifiers.org/clinvar/300263 ^@ NM_000399.4(EGR2):c.*1079G>A http://identifiers.org/clinvar/300313 ^@ NM_018055.4(NODAL):c.-9C>T http://identifiers.org/clinvar/307067 ^@ NM_052845.3(MMAB):c.*368_*378delTGTGTGTGTGTinsA http://identifiers.org/clinvar/300463 ^@ NM_022124.5(CDH23):c.8743C>T (p.Arg2915Cys) http://identifiers.org/clinvar/307217 ^@ NM_000432.3(MYL2):c.-12G>C http://identifiers.org/clinvar/307367 ^@ NM_005996.3(TBX3):c.1233G>A (p.Ala411=) http://identifiers.org/clinvar/307417 ^@ NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) http://identifiers.org/clinvar/307467 ^@ NM_000545.6(HNF1A):c.*391G>C http://identifiers.org/clinvar/308456 ^@ NM_001040436.2(YARS2):c.917T>C (p.Phe306Ser) http://identifiers.org/clinvar/308606 ^@ NM_017641.3(KIF21A):c.-345G>A http://identifiers.org/clinvar/308656 ^@ NM_198578.3(LRRK2):c.*364A>C http://identifiers.org/clinvar/365520 ^@ NM_000368.4(TSC1):c.-35G>A http://identifiers.org/clinvar/308706 ^@ NM_153026.2(PRICKLE1):c.1072T>G (p.Tyr358Asp) http://identifiers.org/clinvar/365620 ^@ NM_014694.3(ADAMTSL2):c.*376G>A http://identifiers.org/clinvar/308956 ^@ NM_000289.5(PFKM):c.1946A>G (p.Lys649Arg) http://identifiers.org/clinvar/365770 ^@ NM_000093.4(COL5A1):c.*1260G>A http://identifiers.org/clinvar/309156 ^@ NM_000217.2(KCNA1):c.*511A>G http://identifiers.org/clinvar/365470 ^@ NM_000368.4(TSC1):c.*1680G>A http://identifiers.org/clinvar/365570 ^@ NM_014694.3(ADAMTSL2):c.11G>C (p.Arg4Thr) http://identifiers.org/clinvar/298374 ^@ NM_004376.5(COX15):c.*3647A>T http://identifiers.org/clinvar/365670 ^@ NM_000787.3(DBH):c.1599G>A (p.Ala533=) http://identifiers.org/clinvar/309456 ^@ NM_000020.2(ACVRL1):c.*862G>A http://identifiers.org/clinvar/309556 ^@ NM_000424.3(KRT5):c.1575C>T (p.Ala525=) http://identifiers.org/clinvar/309606 ^@ NM_000423.2(KRT2):c.1272C>T (p.Ile424=) http://identifiers.org/clinvar/302202 ^@ NM_000019.3(ACAT1):c.903G>A (p.Ala301=) http://identifiers.org/clinvar/302252 ^@ NM_000051.3(ATM):c.5632_5635delTCGC (p.Ser1878Lysfs) http://identifiers.org/clinvar/366460 ^@ NM_000459.4(TEK):c.*230T>C http://identifiers.org/clinvar/366660 ^@ NM_001497.3(B4GALT1):c.621G>A (p.Leu207=) http://identifiers.org/clinvar/306617 ^@ NM_018979.3(WNK1):c.6101A>G (p.His2034Arg) http://identifiers.org/clinvar/314339 ^@ NM_014239.3(EIF2B2):c.*48A>C http://identifiers.org/clinvar/322124 ^@ NM_016239.3(MYO15A):c.2259G>T (p.Ala753=) http://identifiers.org/clinvar/322274 ^@ NM_000430.3(PAFAH1B1):c.*806G>A http://identifiers.org/clinvar/322424 ^@ NM_003593.2(FOXN1):c.714T>C (p.Gly238=) http://identifiers.org/clinvar/341038 ^@ NM_022081.5(HPS4):c.-660C>T http://identifiers.org/clinvar/322474 ^@ NM_005148.3(UNC119):c.-44A>G http://identifiers.org/clinvar/341088 ^@ NM_000268.3(NF2):c.*503C>T http://identifiers.org/clinvar/313089 ^@ NM_021914.7(CFL2):c.*718A>G http://identifiers.org/clinvar/322724 ^@ NM_145068.3(TRPV3):c.*1218G>A http://identifiers.org/clinvar/341388 ^@ NM_000362.4(TIMP3):c.*2413G>T http://identifiers.org/clinvar/313239 ^@ NM_002408.3(MGAT2):c.-455C>T http://identifiers.org/clinvar/341438 ^@ NM_004737.5(LARGE1):c.163A>G (p.Thr55Ala) http://identifiers.org/clinvar/313339 ^@ NM_001202.5(BMP4):c.*148_*149insAT http://identifiers.org/clinvar/313389 ^@ NM_000161.2(GCH1):c.*12T>C http://identifiers.org/clinvar/341838 ^@ NM_001429.3(EP300):c.*340dupT http://identifiers.org/clinvar/313589 ^@ NM_182914.2(SYNE2):c.13570G>A (p.Glu4524Lys) http://identifiers.org/clinvar/341938 ^@ NM_025225.2(PNPLA3):c.980-15A>C http://identifiers.org/clinvar/341988 ^@ NM_006953.3(UPK3A):c.*26C>T http://identifiers.org/clinvar/313689 ^@ NM_182914.2(SYNE2):c.*696A>G http://identifiers.org/clinvar/313739 ^@ NM_000347.5(SPTB):c.3425G>A (p.Arg1142Gln) http://identifiers.org/clinvar/342188 ^@ NM_000487.5(ARSA):c.*2091_*2093delCCT http://identifiers.org/clinvar/367989 ^@ NM_001011658.3(TRAPPC2):c.*394T>C http://identifiers.org/clinvar/368039 ^@ NM_001018113.2(FANCB):c.-232G>A http://identifiers.org/clinvar/314239 ^@ NM_006432.3(NPC2):c.212A>G (p.Lys71Arg) http://identifiers.org/clinvar/324170 ^@ NM_017777.3(MKS1):c.80+14C>G http://identifiers.org/clinvar/324322 ^@ NM_032043.2(BRIP1):c.*2082_*2085delTGTC http://identifiers.org/clinvar/324522 ^@ NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) http://identifiers.org/clinvar/324572 ^@ NM_014336.4(AIPL1):c.*1534G>A http://identifiers.org/clinvar/324672 ^@ NM_031220.3(PITPNM3):c.*3452delC http://identifiers.org/clinvar/324922 ^@ NM_000346.3(SOX9):c.*23A>C http://identifiers.org/clinvar/317539 ^@ NM_000875.4(IGF1R):c.*2856_*2857dupTT http://identifiers.org/clinvar/325222 ^@ NM_000154.1(GALK1):c.*85C>T http://identifiers.org/clinvar/318191 ^@ NM_014714.3(IFT140):c.1360-14G>A http://identifiers.org/clinvar/372579 ^@ NM_000350.2(ABCA4):c.3682G>T (p.Glu1228Ter) http://identifiers.org/clinvar/373539 ^@ NM_000060.4(BTD):c.442C>T (p.Arg148Cys) http://identifiers.org/clinvar/373439 ^@ NM_006030.3(CACNA2D2):c.1846-1G>A http://identifiers.org/clinvar/372939 ^@ NM_002880.3(RAF1):c.974A>C (p.Gln325Pro) http://identifiers.org/clinvar/372681 ^@ NM_000414.3(HSD17B4):c.1528G>A (p.Asp510Asn) http://identifiers.org/clinvar/372528 ^@ NM_001135243.1(TCOF1):c.3754_3757delGCAG (p.Ala1252Glnfs) http://identifiers.org/clinvar/373039 ^@ NM_006846.3(SPINK5):c.882+2T>C http://identifiers.org/clinvar/373339 ^@ NM_024582.4(FAT4):c.1163C>T (p.Pro388Leu) http://identifiers.org/clinvar/373639 ^@ NM_173660.4(DOK7):c.1451C>T (p.Pro484Leu) http://identifiers.org/clinvar/373389 ^@ NM_001128429.2(SMARCAD1):c.304G>A (p.Val102Ile) http://identifiers.org/clinvar/373239 ^@ NM_003919.2(SGCE):c.1310C>T (p.Pro437Leu) http://identifiers.org/clinvar/373289 ^@ NM_001256732.2(SSBP2):c.152dupA (p.Asn51Lysfs) http://identifiers.org/clinvar/373189 ^@ NM_000426.3(LAMA2):c.3244C>T (p.His1082Tyr) http://identifiers.org/clinvar/373489 ^@ NM_000287.3(PEX6):c.2891dupA (p.Gln965Alafs) http://identifiers.org/clinvar/372989 ^@ NM_003165.3(STXBP1):c.1549G>T (p.Ala517Ser) http://identifiers.org/clinvar/373689 ^@ NM_001193536.1(DOCK8):c.227_228delGCinsTT (p.Gly76Val) http://identifiers.org/clinvar/373589 ^@ NM_004959.4(NR5A1):c.1180C>G (p.Gln394Glu) http://identifiers.org/clinvar/372783 ^@ NM_000192.3(TBX5):c.710G>C (p.Arg237Pro) http://identifiers.org/clinvar/373739 ^@ NM_004572.3(PKP2):c.2489C>A (p.Ala830Asp) http://identifiers.org/clinvar/372629 ^@ NM_152594.2(SPRED1):c.1282C>T (p.Arg428Cys) http://identifiers.org/clinvar/372835 ^@ NM_002755.3(MAP2K1):c.516+2T>C http://identifiers.org/clinvar/372733 ^@ NM_002755.3(MAP2K1):c.896-7T>C http://identifiers.org/clinvar/372886 ^@ NM_001128849.1(SMARCA4):c.4309C>T (p.Arg1437Trp) http://identifiers.org/clinvar/373789 ^@ NM_017636.3(TRPM4):c.2426C>T (p.Pro809Leu) http://identifiers.org/clinvar/373089 ^@ NM_006767.3(LZTR1):c.1234C>T (p.Arg412Cys) http://identifiers.org/clinvar/373139 ^@ NM_003688.3(CASK):c.2368C>T (p.Gln790Ter) http://identifiers.org/clinvar/373839 ^@ NG_005905.2:g.96347_106508del10162 http://identifiers.org/clinvar/374523 ^@ NM_174917.4(ACSF3):c.1377dupG (p.Val460Glyfs) http://identifiers.org/clinvar/374573 ^@ NM_033071.3(SYNE1):c.10041A>G (p.Ile3347Met) http://identifiers.org/clinvar/374623 ^@ NM_024989.3(PGAP1):c.1220G>A (p.Cys407Tyr) http://identifiers.org/clinvar/374673 ^@ NM_001001396.2(ATP2B4):c.2548G>A (p.Val850Ile) http://identifiers.org/clinvar/374723 ^@ NM_004990.3(MARS):c.2363C>T (p.Thr788Ile) http://identifiers.org/clinvar/374773 ^@ NM_000052.6(ATP7A):c.1893G>C (p.Leu631Phe) http://identifiers.org/clinvar/374833 ^@ KRT14, GLN7TER http://identifiers.org/clinvar/374883 ^@ NM_016011.3(MECR):c.247_250delAATC (p.Asn83Hisfs) http://identifiers.org/clinvar/375281 ^@ NM_005215.3(DCC):c.925delA (p.Thr309Profs) http://identifiers.org/clinvar/375335 ^@ NM_024876.3(COQ8B):c.954_956dupGAC (p.Thr319_Arg320insThr) http://identifiers.org/clinvar/375386 ^@ NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) http://identifiers.org/clinvar/375441 ^@ NM_153427.2(PITX2):c.625_626delTC (p.Ser209Argfs) http://identifiers.org/clinvar/375510 ^@ NM_021007.2(SCN2A):c.751G>A (p.Val251Ile) http://identifiers.org/clinvar/375567 ^@ NM_032578.3(MYPN):c.3169C>T (p.Arg1057Ter) http://identifiers.org/clinvar/375627 ^@ NM_001170629.1(CHD8):c.161G>T (p.Gly54Val) http://identifiers.org/clinvar/375678 ^@ NM_016239.3(MYO15A):c.9229+2T>C http://identifiers.org/clinvar/378802 ^@ NM_001256850.1(TTN):c.10360+3423T>C http://identifiers.org/clinvar/387179 ^@ NM_000179.2(MSH6):c.2841T>C (p.Asn947=) http://identifiers.org/clinvar/388029 ^@ NM_001135659.2(NRXN1):c.-7C>A http://identifiers.org/clinvar/379352 ^@ NM_000388.3(CASR):c.652T>G (p.Tyr218Asp) http://identifiers.org/clinvar/389618 ^@ NM_053025.3(MYLK):c.5055C>T (p.Phe1685=) http://identifiers.org/clinvar/385440 ^@ NM_000532.4(PCCB):c.348A>G (p.Gly116=) http://identifiers.org/clinvar/387979 ^@ NM_000340.1(SLC2A2):c.1251G>A (p.Pro417=) http://identifiers.org/clinvar/379602 ^@ NM_133259.3(LRPPRC):c.365A>G (p.His122Arg) http://identifiers.org/clinvar/379652 ^@ NM_001457.3(FLNB):c.292+12G>C http://identifiers.org/clinvar/381145 ^@ NM_000251.2(MSH2):c.1761C>G (p.Gly587=) http://identifiers.org/clinvar/379102 ^@ NM_000258.2(MYL3):c.157+8G>C http://identifiers.org/clinvar/379302 ^@ NM_005506.3(SCARB2):c.424-4G>A http://identifiers.org/clinvar/391807 ^@ NM_002292.3(LAMB2):c.934T>C (p.Cys312Arg) http://identifiers.org/clinvar/390118 ^@ NM_001148.4(ANK2):c.6982A>C (p.Thr2328Pro) http://identifiers.org/clinvar/389818 ^@ NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) http://identifiers.org/clinvar/390618 ^@ NM_006726.4(LRBA):c.3859A>G (p.Ile1287Val) http://identifiers.org/clinvar/378852 ^@ NM_000551.3(VHL):c.-16C>T http://identifiers.org/clinvar/389718 ^@ NM_000038.5(APC):c.1962A>G (p.Gln654=) http://identifiers.org/clinvar/389868 ^@ NM_023073.3(C5orf42):c.4892C>T (p.Ser1631Leu) http://identifiers.org/clinvar/390418 ^@ NM_012208.3(HARS2):c.*15C>T http://identifiers.org/clinvar/384890 ^@ NM_020117.10(LARS):c.3326-3T>C http://identifiers.org/clinvar/386979 ^@ NM_005670.3(EPM2A):c.-41G>A http://identifiers.org/clinvar/385840 ^@ NM_023073.3(C5orf42):c.7080G>A (p.Pro2360=) http://identifiers.org/clinvar/381545 ^@ NM_006514.3(SCN10A):c.618A>G (p.Ile206Met) http://identifiers.org/clinvar/385490 ^@ NM_005670.3(EPM2A):c.301+5T>C http://identifiers.org/clinvar/390668 ^@ NM_033071.3(SYNE1):c.1083C>T (p.Phe361=) http://identifiers.org/clinvar/380844 ^@ NM_002291.2(LAMB1):c.2920C>G (p.Gln974Glu) http://identifiers.org/clinvar/380794 ^@ NM_024582.4(FAT4):c.6585T>C (p.Asn2195=) http://identifiers.org/clinvar/379802 ^@ NM_005431.1(XRCC2):c.528T>C (p.Cys176=) http://identifiers.org/clinvar/384840 ^@ NM_002047.3(GARS):c.69G>A (p.Arg23=) http://identifiers.org/clinvar/385940 ^@ NM_000501.3(ELN):c.232+3G>A http://identifiers.org/clinvar/385890 ^@ NM_014141.5(CNTNAP2):c.3010+6G>A http://identifiers.org/clinvar/385040 ^@ NM_014251.2(SLC25A13):c.1842-12C>A http://identifiers.org/clinvar/379052 ^@ NM_000238.3(KCNH2):c.1686C>G (p.His562Gln) http://identifiers.org/clinvar/391657 ^@ NM_005045.3(RELN):c.6842C>G (p.Pro2281Arg) http://identifiers.org/clinvar/380053 ^@ NM_002887.3(RARS):c.1092A>G (p.Val364=) http://identifiers.org/clinvar/390818 ^@ NM_001130438.2(SPTAN1):c.1324-12T>C http://identifiers.org/clinvar/379752 ^@ NM_006904.6(PRKDC):c.999G>A (p.Met333Ile) http://identifiers.org/clinvar/391707 ^@ NM_003220.2(TFAP2A):c.251C>T (p.Pro84Leu) http://identifiers.org/clinvar/390318 ^@ NM_000445.4(PLEC):c.5943C>T (p.Asn1981=) http://identifiers.org/clinvar/387329 ^@ NM_017617.4(NOTCH1):c.1669+13G>A http://identifiers.org/clinvar/133032 ^@ NM_000540.2(RYR1):c.12121C>T (p.Arg4041Trp) http://identifiers.org/clinvar/133082 ^@ NM_000540.2(RYR1):c.14639T>C (p.Met4880Thr) http://identifiers.org/clinvar/133132 ^@ NM_000540.2(RYR1):c.463C>A (p.Gln155Lys) http://identifiers.org/clinvar/133182 ^@ NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr) http://identifiers.org/clinvar/133232 ^@ NM_000540.2(RYR1):c.8638G>A (p.Glu2880Lys) http://identifiers.org/clinvar/133968 ^@ NM_177438.2(DICER1):c.179C>T (p.Thr60Ile) http://identifiers.org/clinvar/134018 ^@ NM_005228.4(EGFR):c.1177G>C (p.Asp393His) http://identifiers.org/clinvar/134070 ^@ NM_001005862.2(ERBB2):c.1141T>G (p.Tyr381Asp) http://identifiers.org/clinvar/134120 ^@ NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) http://identifiers.org/clinvar/134170 ^@ NM_000123.3(ERCC5):c.3026G>A (p.Arg1009His) http://identifiers.org/clinvar/134220 ^@ NM_004456.4(EZH2):c.1844C>T (p.Ser615Phe) http://identifiers.org/clinvar/134270 ^@ NM_000135.2(FANCA):c.3538G>A (p.Val1180Met) http://identifiers.org/clinvar/134321 ^@ NM_001018115.2(FANCD2):c.2989C>T (p.Arg997Trp) http://identifiers.org/clinvar/134372 ^@ NM_000043.5(FAS):c.365C>T (p.Thr122Ile) http://identifiers.org/clinvar/134422 ^@ NM_144997.5(FLCN):c.202A>G (p.Ser68Gly) http://identifiers.org/clinvar/134472 ^@ NM_002067.4(GNA11):c.193G>A (p.Ala65Thr) http://identifiers.org/clinvar/134522 ^@ NM_001282386.1(IDH1):c.622T>C (p.Tyr208His) http://identifiers.org/clinvar/134572 ^@ NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) http://identifiers.org/clinvar/134622 ^@ NM_000222.2(KIT):c.1711A>G (p.Ile571Val) http://identifiers.org/clinvar/134674 ^@ NM_003482.3(KMT2D):c.3993_3995delAAC (p.Thr1332del) http://identifiers.org/clinvar/134725 ^@ NM_003482.3(KMT2D):c.13969T>C (p.Ser4657Pro) http://identifiers.org/clinvar/134775 ^@ NM_170606.2(KMT2C):c.7846C>T (p.Pro2616Ser) http://identifiers.org/clinvar/134826 ^@ NM_005373.2(MPL):c.529dupA (p.Asn178Glufs) http://identifiers.org/clinvar/134879 ^@ NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) http://identifiers.org/clinvar/134929 ^@ NM_017617.4(NOTCH1):c.3767C>T (p.Pro1256Leu) http://identifiers.org/clinvar/134979 ^@ NM_024408.3(NOTCH2):c.5161G>A (p.Ala1721Thr) http://identifiers.org/clinvar/135029 ^@ NM_006206.4(PDGFRA):c.1357A>T (p.Ile453Phe) http://identifiers.org/clinvar/135080 ^@ NM_001198.3(PRDM1):c.1306A>G (p.Asn436Asp) http://identifiers.org/clinvar/135131 ^@ NM_004260.3(RECQL4):c.1772C>T (p.Pro591Leu) http://identifiers.org/clinvar/135212 ^@ NM_014159.6(SETD2):c.2275A>G (p.Lys759Glu) http://identifiers.org/clinvar/135263 ^@ NM_005631.4(SMO):c.2177G>A (p.Arg726Gln) http://identifiers.org/clinvar/135313 ^@ NM_001127208.2(TET2):c.3035C>T (p.Pro1012Leu) http://identifiers.org/clinvar/135363 ^@ NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) http://identifiers.org/clinvar/135414 ^@ NM_000377.2(WAS):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/135464 ^@ NM_004628.4(XPC):c.52A>C (p.Ser18Arg) http://identifiers.org/clinvar/135514 ^@ NM_001077706.2(ECT2L):c.1070-1G>C http://identifiers.org/clinvar/135565 ^@ NG_007110.2:g.114262C>T http://identifiers.org/clinvar/135639 ^@ NM_003647.2(DGKE):c.486dupA (p.Val163Serfs) http://identifiers.org/clinvar/135699 ^@ NM_000038.5(APC):c.3901A>G (p.Thr1301Ala) http://identifiers.org/clinvar/135750 ^@ NM_000051.3(ATM):c.3300G>A (p.Thr1100=) http://identifiers.org/clinvar/135808 ^@ NM_000059.3(BRCA2):c.6176G>A (p.Ser2059Asn) http://identifiers.org/clinvar/135909 ^@ NM_000314.6(PTEN):c.258A>G (p.Ala86=) http://identifiers.org/clinvar/135959 ^@ NM_001127500.2(MET):c.1361A>T (p.Asn454Ile) http://identifiers.org/clinvar/136011 ^@ NM_001166110.1(PALLD):c.738+8G>A http://identifiers.org/clinvar/136061 ^@ NM_004360.4(CDH1):c.1689C>T (p.Ala563=) http://identifiers.org/clinvar/136112 ^@ NM_020975.4(RET):c.2692G>T (p.Asp898Tyr) http://identifiers.org/clinvar/136162 ^@ NM_058216.2(RAD51C):c.721G>A (p.Val241Met) http://identifiers.org/clinvar/136223 ^@ NM_020745.3(AARS2):c.678C>T (p.Tyr226=) http://identifiers.org/clinvar/136274 ^@ NM_174917.4(ACSF3):c.342G>C (p.Ala114=) http://identifiers.org/clinvar/185064 ^@ NM_001042492.2(NF1):c.6881C>T (p.Thr2294Ile) http://identifiers.org/clinvar/187205 ^@ NM_001042492.2(NF1):c.8490C>A (p.Phe2830Leu) http://identifiers.org/clinvar/187455 ^@ NM_002878.3(RAD51D):c.217G>A (p.Glu73Lys) http://identifiers.org/clinvar/185264 ^@ NM_007294.3(BRCA1):c.4675+3A>G http://identifiers.org/clinvar/185414 ^@ NM_007294.3(BRCA1):c.3221G>C (p.Arg1074Thr) http://identifiers.org/clinvar/187705 ^@ NM_007294.3(BRCA1):c.1838G>A (p.Arg613Lys) http://identifiers.org/clinvar/185214 ^@ NM_007294.3(BRCA1):c.366T>G (p.Val122=) http://identifiers.org/clinvar/185764 ^@ NM_032043.2(BRIP1):c.370A>C (p.Thr124Pro) http://identifiers.org/clinvar/185814 ^@ NM_000546.5(TP53):c.814G>A (p.Val272Met) http://identifiers.org/clinvar/184614 ^@ NM_007194.3(CHEK2):c.1323C>T (p.Thr441=) http://identifiers.org/clinvar/187816 ^@ NM_014795.3(ZEB2):c.2004G>T (p.Glu668Asp) http://identifiers.org/clinvar/187888 ^@ NM_005957.4(MTHFR):c.1060C>T (p.His354Tyr) http://identifiers.org/clinvar/187938 ^@ NM_004409.4(DMPK):c.*224_*226[216] http://identifiers.org/clinvar/187988 ^@ NM_004409.4(DMPK):c.*224_*226[461] http://identifiers.org/clinvar/188038 ^@ NM_004409.4(DMPK):c.*224_*226[88] http://identifiers.org/clinvar/188295 ^@ NM_000251.2(MSH2):c.1077-?_1276+?dup http://identifiers.org/clinvar/188190 ^@ NM_014946.3(SPAST):c.1165A>G (p.Thr389Ala) http://identifiers.org/clinvar/188140 ^@ NM_020975.4(RET):c.3021G>T (p.Lys1007Asn) http://identifiers.org/clinvar/188242 ^@ NM_004329.2(BMPR1A):c.499A>G (p.Met167Val) http://identifiers.org/clinvar/188088 ^@ NM_000546.5(TP53):c.831_848dup18 (p.Arg283_Thr284insProGlyArgAspArgArg) http://identifiers.org/clinvar/188349 ^@ NM_000546.5(TP53):c.776A>G (p.Asp259Gly) http://identifiers.org/clinvar/188406 ^@ NM_007294.3(BRCA1):c.892_895dupAATG (p.Val299Glufs) http://identifiers.org/clinvar/228975 ^@ NM_017433.4(MYO3A):c.1359+1G>T http://identifiers.org/clinvar/227494 ^@ NM_001080116.1(LDB3):c.322-14C>T http://identifiers.org/clinvar/227444 ^@ NM_004517.3(ILK):c.618+10G>A http://identifiers.org/clinvar/229125 ^@ NM_012226.4(P2RX2):c.748G>A (p.Gly250Arg) http://identifiers.org/clinvar/228425 ^@ NM_005691.3(ABCC9):c.4519G>A (p.Val1507Ile) http://identifiers.org/clinvar/228525 ^@ NM_004086.2(COCH):c.971G>A (p.Arg324Gln) http://identifiers.org/clinvar/228675 ^@ NM_004452.3(ESRRB):c.889G>A (p.Asp297Asn) http://identifiers.org/clinvar/229275 ^@ NM_153700.2(STRC):c.1613G>T (p.Cys538Phe) http://identifiers.org/clinvar/226453 ^@ NM_001089.2(ABCA3):c.-9A>G http://identifiers.org/clinvar/228275 ^@ NM_016239.3(MYO15A):c.6437G>A (p.Arg2146Gln) http://identifiers.org/clinvar/229025 ^@ NM_003803.3(MYOM1):c.3548G>A (p.Arg1183Gln) http://identifiers.org/clinvar/228625 ^@ NM_004949.4(DSC2):c.574A>C (p.Thr192Pro) http://identifiers.org/clinvar/228825 ^@ NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) http://identifiers.org/clinvar/228325 ^@ NM_017721.4(CC2D1A):c.748+1G>T http://identifiers.org/clinvar/226503 ^@ NM_001039213.3(CEACAM16):c.1215T= (p.Thr405=) http://identifiers.org/clinvar/228875 ^@ NM_001145809.1(MYH14):c.2900C>G (p.Thr967Arg) http://identifiers.org/clinvar/229325 ^@ NM_024022.2(TMPRSS3):c.550T>G (p.Leu184Val) http://identifiers.org/clinvar/228925 ^@ NM_002473.5(MYH9):c.4598A>G (p.Gln1533Arg) http://identifiers.org/clinvar/226553 ^@ NM_000395.2(CSF2RB):c.2430C>A (p.Pro810=) http://identifiers.org/clinvar/229375 ^@ NM_144991.2(TSPEAR):c.1925C>G (p.Ala642Gly) http://identifiers.org/clinvar/233106 ^@ NM_001128425.1(MUTYH):c.1209G>A (p.Glu403=) http://identifiers.org/clinvar/233206 ^@ NM_001128425.1(MUTYH):c.1099C>G (p.Pro367Ala) http://identifiers.org/clinvar/233556 ^@ NM_001128425.1(MUTYH):c.507G>A (p.Glu169=) http://identifiers.org/clinvar/233406 ^@ NM_000465.3(BARD1):c.1653A>G (p.Ser551=) http://identifiers.org/clinvar/231416 ^@ NM_000465.3(BARD1):c.1543T>C (p.Ser515Pro) http://identifiers.org/clinvar/233506 ^@ NM_000465.3(BARD1):c.1305T>G (p.Ala435=) http://identifiers.org/clinvar/231816 ^@ NM_000465.3(BARD1):c.1265T>C (p.Val422Ala) http://identifiers.org/clinvar/233909 ^@ NM_000465.3(BARD1):c.737C>G (p.Pro246Arg) http://identifiers.org/clinvar/233706 ^@ NM_000251.2(MSH2):c.1999A>G (p.Ile667Val) http://identifiers.org/clinvar/233256 ^@ NM_000251.2(MSH2):c.2378A>C (p.Gln793Pro) http://identifiers.org/clinvar/232956 ^@ NM_000179.2(MSH6):c.63C>G (p.Asn21Lys) http://identifiers.org/clinvar/233859 ^@ NM_000179.2(MSH6):c.2975A>G (p.Glu992Gly) http://identifiers.org/clinvar/231116 ^@ NM_000038.5(APC):c.1746A>G (p.Glu582=) http://identifiers.org/clinvar/264041 ^@ NM_024422.4(DSC2):c.754A>G (p.Ile252Val) http://identifiers.org/clinvar/264408 ^@ NM_000071.2(CBS):c.1358G>A (p.Gly453Glu) http://identifiers.org/clinvar/263891 ^@ NM_000071.2(CBS):c.394C>A (p.Arg132Ser) http://identifiers.org/clinvar/265477 ^@ NM_002016.1(FLG):c.7264G>T (p.Glu2422Ter) http://identifiers.org/clinvar/265628 ^@ NM_019026.4(TMCO1):c.340C>T (p.Arg114Ter) http://identifiers.org/clinvar/265277 ^@ NM_003722.4(TP63):c.1655T>G (p.Phe552Cys) http://identifiers.org/clinvar/265427 ^@ NM_000426.3(LAMA2):c.7991delG (p.Gly2664Valfs) http://identifiers.org/clinvar/265527 ^@ NM_004456.4(EZH2):c.2007C>G (p.Ser669Arg) http://identifiers.org/clinvar/265578 ^@ NM_000051.3(ATM):c.1235+1delG http://identifiers.org/clinvar/265678 ^@ NM_004572.3(PKP2):c.1511-1G>A http://identifiers.org/clinvar/265377 ^@ NM_007194.3(CHEK2):c.1528C>T (p.Gln510Ter) http://identifiers.org/clinvar/265327 ^@ NM_007194.3(CHEK2):c.470T>G (p.Ile157Ser) http://identifiers.org/clinvar/265224 ^@ NM_000425.4(L1CAM):c.1417C>T (p.Arg473Cys) http://identifiers.org/clinvar/265763 ^@ NM_021815.4(SLC5A7):c.1082G>A (p.Arg361Gln) http://identifiers.org/clinvar/265867 ^@ NM_022068.3(PIEZO2):c.5053C>T (p.Arg1685Ter) http://identifiers.org/clinvar/265917 ^@ NM_174936.3(PCSK9):c.63_65delGCT (p.Leu23del) http://identifiers.org/clinvar/265971 ^@ NM_003611.2(OFD1):c.518-1G>A http://identifiers.org/clinvar/266023 ^@ NM_019023.2(PRMT7):c.1159A>G (p.Arg387Gly) http://identifiers.org/clinvar/266099 ^@ NM_001142301.1(TMEM67):c.2464G>C (p.Glu822Gln) http://identifiers.org/clinvar/266649 ^@ NM_000059.3(BRCA2):c.1668_1671delTTTAinsATT (p.Asn556Lysfs) http://identifiers.org/clinvar/266549 ^@ NM_007294.3(BRCA1):c.5353_5354dupCA (p.Gln1785Hisfs) http://identifiers.org/clinvar/266499 ^@ NM_007294.3(BRCA1):c.4875T>A (p.Tyr1625Ter) http://identifiers.org/clinvar/266449 ^@ NM_007294.3(BRCA1):c.4127delC (p.Thr1376Lysfs) http://identifiers.org/clinvar/266399 ^@ NM_007294.3(BRCA1):c.3679C>T (p.Gln1227Ter) http://identifiers.org/clinvar/266349 ^@ NM_007294.3(BRCA1):c.3266delT (p.Leu1089Cysfs) http://identifiers.org/clinvar/266299 ^@ NM_007294.3(BRCA1):c.2751delC (p.Lys918Serfs) http://identifiers.org/clinvar/266249 ^@ NM_007294.3(BRCA1):c.2322delT (p.Thr775Leufs) http://identifiers.org/clinvar/266199 ^@ NM_007294.3(BRCA1):c.1905_1909delTTGTA (p.Cys636Terfs) http://identifiers.org/clinvar/266149 ^@ NM_007294.3(BRCA1):c.1253delA (p.Glu418Glyfs) http://identifiers.org/clinvar/266599 ^@ NM_007294.3(BRCA1):c.979delA (p.Thr327Hisfs) http://identifiers.org/clinvar/290928 ^@ NM_001849.3(COL6A2):c.1269G>C (p.Pro423=) http://identifiers.org/clinvar/290978 ^@ NM_000492.3(CFTR):c.663G>A (p.Ala221=) http://identifiers.org/clinvar/291028 ^@ NM_002857.3(PEX19):c.21C>G (p.Gly7=) http://identifiers.org/clinvar/291078 ^@ NM_003494.3(DYSF):c.6038C>G (p.Pro2013Arg) http://identifiers.org/clinvar/291128 ^@ NM_001079802.1(FKTN):c.770C>T (p.Ala257Val) http://identifiers.org/clinvar/291179 ^@ NM_015102.4(NPHP4):c.2647_2653delGTGGACAinsATGGACC (p.Val883_Ser885delinsMetAspArg) http://identifiers.org/clinvar/291229 ^@ NM_014028.3(OSTM1):c.143C>G (p.Ser48Trp) http://identifiers.org/clinvar/291279 ^@ NM_003630.2(PEX3):c.473C>G (p.Pro158Arg) http://identifiers.org/clinvar/291394 ^@ NM_001918.3(DBT):c.*6646G>T http://identifiers.org/clinvar/291444 ^@ NM_001918.3(DBT):c.*635C>T http://identifiers.org/clinvar/291494 ^@ NM_001854.3(COL11A1):c.4906A>G (p.Lys1636Glu) http://identifiers.org/clinvar/291544 ^@ NM_001854.3(COL11A1):c.698A>G (p.Tyr233Cys) http://identifiers.org/clinvar/291594 ^@ NM_015074.3(KIF1B):c.*279C>T http://identifiers.org/clinvar/291946 ^@ NM_002524.4(NRAS):c.*2965delT http://identifiers.org/clinvar/292396 ^@ NM_014874.3(MFN2):c.*946C>A http://identifiers.org/clinvar/291996 ^@ NM_138959.2(VANGL1):c.-235_-233dupCGG http://identifiers.org/clinvar/292746 ^@ NM_001111.4(ADAR):c.*468G>A http://identifiers.org/clinvar/292496 ^@ NM_004698.2(PRPF3):c.378C>T (p.Ile126=) http://identifiers.org/clinvar/292846 ^@ NM_022367.3(SEMA4A):c.492C>T (p.Ile164=) http://identifiers.org/clinvar/292696 ^@ NM_152263.3(TPM3):c.495+7G>C http://identifiers.org/clinvar/292996 ^@ NM_003126.2(SPTA1):c.3189-10C>T http://identifiers.org/clinvar/292796 ^@ NM_000298.5(PKLR):c.*582G>A http://identifiers.org/clinvar/292546 ^@ NM_019032.5(ADAMTSL4):c.2178-7C>A http://identifiers.org/clinvar/292446 ^@ NM_005266.6(GJA5):c.*46T>C http://identifiers.org/clinvar/293546 ^@ NM_000130.4(F5):c.*1601C>T http://identifiers.org/clinvar/293246 ^@ NM_000309.3(PPOX):c.-1C>T http://identifiers.org/clinvar/292596 ^@ NM_000449.3(RFX5):c.*1118A>G http://identifiers.org/clinvar/293346 ^@ NM_003001.3(SDHC):c.*1332C>A http://identifiers.org/clinvar/293446 ^@ NM_004431.4(EPHA2):c.507C>T (p.Ser169=) http://identifiers.org/clinvar/292646 ^@ NM_152263.3(TPM3):c.*4203G>A http://identifiers.org/clinvar/293496 ^@ NM_005149.2(TBX19):c.*781A>G http://identifiers.org/clinvar/293596 ^@ NM_000130.4(F5):c.4356C>A (p.Ser1452Arg) http://identifiers.org/clinvar/292946 ^@ NM_003126.2(SPTA1):c.6789-8dupT http://identifiers.org/clinvar/292896 ^@ NM_001012331.1(NTRK1):c.2151C>T (p.Tyr717=) http://identifiers.org/clinvar/293096 ^@ NM_002241.4(KCNJ10):c.*2012_*2019delGTGTGTGT http://identifiers.org/clinvar/293196 ^@ NM_002857.3(PEX19):c.*2156C>G http://identifiers.org/clinvar/293046 ^@ NM_003126.2(SPTA1):c.812+7A>T http://identifiers.org/clinvar/293146 ^@ NM_000702.3(ATP1A2):c.*546G>A http://identifiers.org/clinvar/293296 ^@ NM_001643.1(APOA2):c.-21G>A http://identifiers.org/clinvar/293396 ^@ NM_004431.4(EPHA2):c.*510G>A http://identifiers.org/clinvar/294385 ^@ NM_003748.3(ALDH4A1):c.648C>T (p.Gly216=) http://identifiers.org/clinvar/294485 ^@ NM_000186.3(CFH):c.428-3C>T http://identifiers.org/clinvar/294585 ^@ NM_001994.2(F13B):c.645_647delTTT (p.Leu216del) http://identifiers.org/clinvar/294635 ^@ NM_018136.4(ASPM):c.3791G>A (p.Arg1264His) http://identifiers.org/clinvar/294685 ^@ NM_201253.2(CRB1):c.3202A>G (p.Thr1068Ala) http://identifiers.org/clinvar/294735 ^@ NM_000069.2(CACNA1S):c.2979C>A (p.Ser993Arg) http://identifiers.org/clinvar/293646 ^@ NM_000130.4(F5):c.-84G>A http://identifiers.org/clinvar/293696 ^@ NM_006894.5(FMO3):c.1288T>C (p.Tyr430His) http://identifiers.org/clinvar/294885 ^@ NM_001005337.2(PKP1):c.*2623C>G http://identifiers.org/clinvar/295035 ^@ NM_005216.4(DDOST):c.*570_*577dupTAAATAAA http://identifiers.org/clinvar/344277 ^@ NM_181426.1(CCDC39):c.654T>C (p.Asn218=) http://identifiers.org/clinvar/343377 ^@ NM_153240.4(NPHP3):c.3214C>T (p.Leu1072Phe) http://identifiers.org/clinvar/335891 ^@ NM_014946.3(SPAST):c.*2999dupT http://identifiers.org/clinvar/343527 ^@ NM_024334.2(TMEM43):c.*924T>C http://identifiers.org/clinvar/343577 ^@ NM_004628.4(XPC):c.413-4A>G http://identifiers.org/clinvar/336041 ^@ NM_022436.2(ABCG5):c.1180C>T (p.Leu394=) http://identifiers.org/clinvar/336448 ^@ NM_000233.3(LHCGR):c.*528T>C http://identifiers.org/clinvar/343827 ^@ NM_005677.3(COLQ):c.*1084G>A http://identifiers.org/clinvar/343927 ^@ NM_024996.5(GFM1):c.897C>T (p.Ser299=) http://identifiers.org/clinvar/344027 ^@ NM_001041.3(SI):c.3540T>C (p.Thr1180=) http://identifiers.org/clinvar/344227 ^@ NM_031955.5(SPATA16):c.104C>T (p.Ala35Val) http://identifiers.org/clinvar/344727 ^@ NM_015141.3(GPD1L):c.745G>C (p.Val249Leu) http://identifiers.org/clinvar/344777 ^@ NM_000404.3(GLB1):c.*376C>G http://identifiers.org/clinvar/344827 ^@ NM_006371.4(CRTAP):c.*865C>G http://identifiers.org/clinvar/337287 ^@ NM_198843.2(SFTPB):c.*1235C>T http://identifiers.org/clinvar/344877 ^@ NM_006371.4(CRTAP):c.*4099A>G http://identifiers.org/clinvar/346016 ^@ NM_002292.3(LAMB2):c.-146G>T http://identifiers.org/clinvar/337387 ^@ NM_022912.2(REEP1):c.149C>T (p.Thr50Ile) http://identifiers.org/clinvar/337437 ^@ NM_144563.2(RPIA):c.*15G>A http://identifiers.org/clinvar/337487 ^@ NM_017849.3(TMEM127):c.*1197T>C http://identifiers.org/clinvar/346366 ^@ NM_001457.3(FLNB):c.7487C>T (p.Ser2496Leu) http://identifiers.org/clinvar/346516 ^@ NM_000248.3(MITF):c.*575_*576dupAA http://identifiers.org/clinvar/346566 ^@ NM_032682.5(FOXP1):c.*3414_*3415insTGTGCG http://identifiers.org/clinvar/342338 ^@ NM_016247.3(IMPG2):c.3355A>G (p.Ile1119Val) http://identifiers.org/clinvar/346616 ^@ NM_032682.5(FOXP1):c.*1037_*1041delCTTTT http://identifiers.org/clinvar/345716 ^@ NM_002222.5(ITPR1):c.2687C>T (p.Ala896Val) http://identifiers.org/clinvar/346766 ^@ NM_002942.4(ROBO2):c.*3313T>C http://identifiers.org/clinvar/346916 ^@ NM_182896.2(ARL13B):c.*38A>C http://identifiers.org/clinvar/345816 ^@ NM_000094.3(COL7A1):c.6978+8G>A http://identifiers.org/clinvar/345866 ^@ NM_000094.3(COL7A1):c.2431C>T (p.Arg811Trp) http://identifiers.org/clinvar/346216 ^@ NM_003392.4(WNT5A):c.*3647T>C http://identifiers.org/clinvar/343127 ^@ NM_032638.4(GATA2):c.*200C>T http://identifiers.org/clinvar/343277 ^@ NM_000539.3(RHO):c.480C>A (p.Thr160=) http://identifiers.org/clinvar/343327 ^@ NM_014382.3(ATP2C1):c.1570+9A>G http://identifiers.org/clinvar/346466 ^@ NM_198859.3(PRICKLE2):c.*581dupT http://identifiers.org/clinvar/343677 ^@ NM_031850.3(AGTR1):c.*70T>G http://identifiers.org/clinvar/343727 ^@ NM_032383.4(HPS3):c.*97_*98insTCTCACAC http://identifiers.org/clinvar/346816 ^@ NM_014043.3(CHMP2B):c.*955_*960delAATTTT http://identifiers.org/clinvar/346866 ^@ NM_000313.3(PROS1):c.*1139C>A http://identifiers.org/clinvar/361871 ^@ NM_004519.3(KCNQ3):c.*396A>G http://identifiers.org/clinvar/361921 ^@ NM_003235.4(TG):c.2150G>A (p.Arg717Gln) http://identifiers.org/clinvar/354143 ^@ NM_003719.3(PDE8B):c.-23G>T http://identifiers.org/clinvar/353893 ^@ NM_002495.3(NDUFS4):c.*79A>G http://identifiers.org/clinvar/354193 ^@ NM_003719.3(PDE8B):c.*516A>G http://identifiers.org/clinvar/362221 ^@ NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) http://identifiers.org/clinvar/353943 ^@ NM_001104631.1(PDE4D):c.*2383G>A http://identifiers.org/clinvar/354243 ^@ NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) http://identifiers.org/clinvar/353993 ^@ NM_001104631.1(PDE4D):c.1197A>G (p.Glu399=) http://identifiers.org/clinvar/354343 ^@ NM_002454.2(MTRR):c.208C>T (p.Arg70Cys) http://identifiers.org/clinvar/354293 ^@ NM_000046.3(ARSB):c.*990C>T http://identifiers.org/clinvar/362371 ^@ NM_177924.4(ASAH1):c.*160T>C http://identifiers.org/clinvar/354393 ^@ NM_004385.4(VCAN):c.854C>T (p.Ala285Val) http://identifiers.org/clinvar/358672 ^@ NM_014491.3(FOXP2):c.*3643T>C http://identifiers.org/clinvar/354493 ^@ NM_004385.4(VCAN):c.*1436C>T http://identifiers.org/clinvar/358822 ^@ NM_000230.2(LEP):c.*150G>A http://identifiers.org/clinvar/354543 ^@ NM_002890.2(RASA1):c.*843_*845delATT http://identifiers.org/clinvar/354743 ^@ NM_020381.3(PDSS2):c.*2027A>G http://identifiers.org/clinvar/359172 ^@ NM_014141.5(CNTNAP2):c.-61G>A http://identifiers.org/clinvar/354693 ^@ NM_001491.2(GCNT2):c.-643G>A http://identifiers.org/clinvar/354843 ^@ NM_007214.4(SEC63):c.*2624T>C http://identifiers.org/clinvar/354793 ^@ NM_001242957.2(MAK):c.1317-12T>C http://identifiers.org/clinvar/354943 ^@ NM_014028.3(OSTM1):c.*2344C>G http://identifiers.org/clinvar/355094 ^@ NM_000493.3(COL10A1):c.1350T>C (p.Thr450=) http://identifiers.org/clinvar/355194 ^@ NM_006073.3(TRDN):c.*1866C>T http://identifiers.org/clinvar/359672 ^@ NM_001277115.1(DNAH11):c.10569-15C>T http://identifiers.org/clinvar/359772 ^@ NM_032581.3(FAM126A):c.1171G>C (p.Gly391Arg) http://identifiers.org/clinvar/359872 ^@ NM_018947.5(CYCS):c.*4408A>C http://identifiers.org/clinvar/355783 ^@ NM_203395.2(IYD):c.*5905A>G http://identifiers.org/clinvar/356083 ^@ NM_000367.4(TPMT):c.*2340T>C http://identifiers.org/clinvar/355983 ^@ NM_004562.2(PRKN):c.*2474A>C http://identifiers.org/clinvar/356033 ^@ NM_003730.4(RNASET2):c.380C>T (p.Ala127Val) http://identifiers.org/clinvar/356283 ^@ NM_001710.5(CFB):c.1037-10C>T http://identifiers.org/clinvar/360911 ^@ NM_000466.2(PEX1):c.*133G>C http://identifiers.org/clinvar/356333 ^@ NM_006929.4(SKIV2L):c.2068C>T (p.Arg690Trp) http://identifiers.org/clinvar/361161 ^@ NM_015713.4(RRM2B):c.*1277A>T http://identifiers.org/clinvar/365420 ^@ NM_000368.4(TSC1):c.*3448C>T http://identifiers.org/clinvar/356683 ^@ NM_000409.4(GUCA1A):c.-536T>C http://identifiers.org/clinvar/365720 ^@ NM_000093.4(COL5A1):c.3564C>T (p.Ile1188=) http://identifiers.org/clinvar/356733 ^@ NM_002098.5(GUCA1B):c.475+8G>A http://identifiers.org/clinvar/361621 ^@ NM_014112.4(TRPS1):c.1788T>C (p.Tyr596=) http://identifiers.org/clinvar/356833 ^@ NM_014780.4(CUL7):c.2803C>T (p.Leu935=) http://identifiers.org/clinvar/361671 ^@ NM_000127.2(EXT1):c.-509C>G http://identifiers.org/clinvar/356883 ^@ NM_006502.2(POLH):c.-288C>T http://identifiers.org/clinvar/357083 ^@ NM_020745.3(AARS2):c.25G>A (p.Ala9Thr) http://identifiers.org/clinvar/356983 ^@ NM_006502.2(POLH):c.*3692G>A http://identifiers.org/clinvar/367110 ^@ NM_004972.3(JAK2):c.-455C>T http://identifiers.org/clinvar/311150 ^@ NM_001846.3(COL4A2):c.2587+8C>T http://identifiers.org/clinvar/367260 ^@ NM_138691.2(TMC1):c.2204A>C (p.Lys735Thr) http://identifiers.org/clinvar/366760 ^@ NM_032634.3(PIGO):c.714C>T (p.Gly238=) http://identifiers.org/clinvar/367310 ^@ NM_017662.4(TRPM6):c.3211A>G (p.Asn1071Asp) http://identifiers.org/clinvar/367389 ^@ NM_033305.2(VPS13A):c.5583A>G (p.Thr1861=) http://identifiers.org/clinvar/311550 ^@ NM_014363.5(SACS):c.3345C>T (p.Val1115=) http://identifiers.org/clinvar/366910 ^@ NM_001042413.1(GLIS3):c.*2813C>T http://identifiers.org/clinvar/311850 ^@ NM_001127217.2(SMAD9):c.*2138C>T http://identifiers.org/clinvar/311900 ^@ NM_001127217.2(SMAD9):c.830C>G (p.Ala277Gly) http://identifiers.org/clinvar/312000 ^@ NM_207361.5(FREM2):c.6019+7A>C http://identifiers.org/clinvar/367210 ^@ NM_000170.2(GLDC):c.-168G>A http://identifiers.org/clinvar/312450 ^@ NM_000115.4(EDNRB):c.*2055A>G http://identifiers.org/clinvar/313189 ^@ NM_020937.3(FANCM):c.269C>T (p.Pro90Leu) http://identifiers.org/clinvar/299163 ^@ NM_000274.3(OAT):c.*378A>G http://identifiers.org/clinvar/299263 ^@ NM_006214.3(PHYH):c.-20G>C http://identifiers.org/clinvar/313489 ^@ NM_182914.2(SYNE2):c.1837-11G>A http://identifiers.org/clinvar/299463 ^@ NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) http://identifiers.org/clinvar/313839 ^@ NM_152443.2(RDH12):c.570C>T (p.Ser190=) http://identifiers.org/clinvar/305153 ^@ NM_000327.3(ROM1):c.-478delG http://identifiers.org/clinvar/299663 ^@ NM_017433.4(MYO3A):c.2263-3T>G http://identifiers.org/clinvar/314039 ^@ NM_031427.3(DNAL1):c.*1690A>G http://identifiers.org/clinvar/305353 ^@ NM_032193.3(RNASEH2C):c.*363C>T http://identifiers.org/clinvar/305403 ^@ NM_001143985.1(BANF1):c.-35A>T http://identifiers.org/clinvar/299313 ^@ NM_001033855.2(DCLRE1C):c.1545A>G (p.Gly515=) http://identifiers.org/clinvar/314389 ^@ NM_001040108.1(MLH3):c.1144G>T (p.Val382Leu) http://identifiers.org/clinvar/314489 ^@ NM_004452.3(ESRRB):c.*24G>A http://identifiers.org/clinvar/299963 ^@ NM_002900.2(RBP3):c.2556C>T (p.Ala852=) http://identifiers.org/clinvar/299513 ^@ NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) http://identifiers.org/clinvar/300063 ^@ NM_000124.3(ERCC6):c.2598+7G>A http://identifiers.org/clinvar/305753 ^@ NM_007103.3(NDUFV1):c.1075C>T (p.Arg359Cys) http://identifiers.org/clinvar/300213 ^@ NM_000417.2(IL2RA):c.*1994G>T http://identifiers.org/clinvar/305903 ^@ NM_012309.4(SHANK2):c.912+724C>G http://identifiers.org/clinvar/306053 ^@ NM_005472.4(KCNE3):c.*1087_*1096dupATATATATAT http://identifiers.org/clinvar/300363 ^@ NM_018344.5(SLC29A3):c.714_715invTG (p.Val239Ile) http://identifiers.org/clinvar/299813 ^@ NM_021252.4(RAB18):c.-20C>T http://identifiers.org/clinvar/306417 ^@ NM_001814.5(CTSC):c.1314C>T (p.Tyr438=) http://identifiers.org/clinvar/300163 ^@ NM_033056.3(PCDH15):c.*127dupT http://identifiers.org/clinvar/300863 ^@ NM_012330.3(KAT6B):c.1468C>T (p.Pro490Ser) http://identifiers.org/clinvar/317639 ^@ NM_000875.4(IGF1R):c.*6308T>C http://identifiers.org/clinvar/311100 ^@ NM_001846.3(COL4A2):c.395C>T (p.Pro132Leu) http://identifiers.org/clinvar/317889 ^@ NM_032520.4(GNPTG):c.713G>A (p.Gly238Glu) http://identifiers.org/clinvar/329461 ^@ NM_000483.4(APOC2):c.*203G>A http://identifiers.org/clinvar/311350 ^@ NM_021954.3(GJA3):c.-41G>T http://identifiers.org/clinvar/318091 ^@ NM_001143979.1(NDE1):c.948-9257C>T http://identifiers.org/clinvar/318141 ^@ NM_001143979.1(NDE1):c.*1155A>G http://identifiers.org/clinvar/318241 ^@ NM_004970.2(IGFALS):c.1386C>T (p.Tyr462=) http://identifiers.org/clinvar/311600 ^@ NM_018451.4(CENPJ):c.*303C>A http://identifiers.org/clinvar/329961 ^@ NM_024729.3(MYH14):c.*302G>A http://identifiers.org/clinvar/311750 ^@ NM_015087.4(SPG20):c.*1014A>G http://identifiers.org/clinvar/330161 ^@ NM_206828.3(NLRP7):c.2373G>A (p.Leu791=) http://identifiers.org/clinvar/311800 ^@ NM_000538.3(RFXAP):c.*1194A>G http://identifiers.org/clinvar/330261 ^@ NM_006087.3(TUBB4A):c.1095G>A (p.Ala365=) http://identifiers.org/clinvar/330461 ^@ NM_000208.3(INSR):c.2370G>A (p.Thr790=) http://identifiers.org/clinvar/318930 ^@ NM_000294.2(PHKG2):c.-28G>T http://identifiers.org/clinvar/330611 ^@ NM_030957.3(ADAMTS10):c.356G>A (p.Arg119Gln) http://identifiers.org/clinvar/312150 ^@ NM_020751.2(COG6):c.1947G>A (p.Pro649=) http://identifiers.org/clinvar/318980 ^@ NM_004960.3(FUS):c.-53C>T http://identifiers.org/clinvar/319180 ^@ NM_032444.2(SLX4):c.1115G>A (p.Arg372Gln) http://identifiers.org/clinvar/337937 ^@ NM_198994.2(TGM6):c.1953_1955dupACA (p.Gln652_Leu653insGln) http://identifiers.org/clinvar/312350 ^@ NM_000053.3(ATP7B):c.*1499A>T http://identifiers.org/clinvar/337987 ^@ NM_001042472.2(ABHD12):c.*148C>T http://identifiers.org/clinvar/312500 ^@ NM_052910.2(SLITRK1):c.1492A>G (p.Lys498Glu) http://identifiers.org/clinvar/319380 ^@ NM_000293.2(PHKB):c.*1000delA http://identifiers.org/clinvar/319581 ^@ NM_002968.2(SALL1):c.*904C>T http://identifiers.org/clinvar/319631 ^@ NM_015272.4(RPGRIP1L):c.*980T>C http://identifiers.org/clinvar/319781 ^@ NM_004530.5(MMP2):c.*627T>C http://identifiers.org/clinvar/311300 ^@ NM_021954.3(GJA3):c.*2311A>C http://identifiers.org/clinvar/311400 ^@ NM_006783.4(GJB6):c.-437C>T http://identifiers.org/clinvar/320231 ^@ NM_001793.5(CDH3):c.867+6T>C http://identifiers.org/clinvar/311650 ^@ NM_015972.3(POLR1D):c.150C>G (p.Thr50=) http://identifiers.org/clinvar/311700 ^@ NM_004795.3(KL):c.1811C>A (p.Pro604His) http://identifiers.org/clinvar/313289 ^@ NM_018139.2(DNAAF2):c.263G>A (p.Cys88Tyr) http://identifiers.org/clinvar/313439 ^@ NM_007374.2(SIX6):c.*298A>G http://identifiers.org/clinvar/311950 ^@ NM_207361.5(FREM2):c.1647C>A (p.Phe549Leu) http://identifiers.org/clinvar/313539 ^@ NM_182914.2(SYNE2):c.8862G>A (p.Ala2954=) http://identifiers.org/clinvar/312200 ^@ NM_014252.3(SLC25A15):c.*1485T>A http://identifiers.org/clinvar/313889 ^@ NM_015346.3(ZFYVE26):c.5216G>A (p.Arg1739Gln) http://identifiers.org/clinvar/313989 ^@ NM_000021.3(PSEN1):c.*2836C>T http://identifiers.org/clinvar/321674 ^@ NM_017534.5(MYH2):c.3489T>C (p.Thr1163=) http://identifiers.org/clinvar/321724 ^@ NM_002470.3(MYH3):c.4647G>C (p.Glu1549Asp) http://identifiers.org/clinvar/367739 ^@ NM_002294.2(LAMP2):c.*4961A>G http://identifiers.org/clinvar/367789 ^@ NM_002294.2(LAMP2):c.-103G>C http://identifiers.org/clinvar/367839 ^@ NM_001167.3(XIAP):c.*4889T>C http://identifiers.org/clinvar/368139 ^@ NM_171998.3(RAB39B):c.*1040C>T http://identifiers.org/clinvar/368339 ^@ NM_003334.3(UBA1):c.1702C>G (p.Leu568Val) http://identifiers.org/clinvar/329561 ^@ NM_025136.3(OPA3):c.*6570G>C http://identifiers.org/clinvar/329611 ^@ NM_025136.3(OPA3):c.*4026dupA http://identifiers.org/clinvar/329911 ^@ NM_024729.3(MYH14):c.1395C>T (p.Arg465=) http://identifiers.org/clinvar/330311 ^@ NM_000064.3(C3):c.2184C>T (p.Cys728=) http://identifiers.org/clinvar/330561 ^@ NM_006949.3(STXBP2):c.1620C>T (p.Gly540=) http://identifiers.org/clinvar/337787 ^@ NM_006363.4(SEC23B):c.-52T>G http://identifiers.org/clinvar/337837 ^@ NM_024411.4(PDYN):c.501C>T (p.Asp167=) http://identifiers.org/clinvar/338087 ^@ NM_015338.5(ASXL1):c.1343T>C (p.Leu448Pro) http://identifiers.org/clinvar/338337 ^@ NM_015474.3(SAMHD1):c.*71C>A http://identifiers.org/clinvar/329661 ^@ NM_025136.3(OPA3):c.*1095C>A http://identifiers.org/clinvar/330011 ^@ NM_144687.3(NLRP12):c.2754G>C (p.Leu918=) http://identifiers.org/clinvar/330111 ^@ NM_015629.3(PRPF31):c.1467C>T (p.Val489=) http://identifiers.org/clinvar/338187 ^@ NM_006892.3(DNMT3B):c.*90T>G http://identifiers.org/clinvar/341188 ^@ NM_000355.3(TCN2):c.67A>G (p.Ile23Val) http://identifiers.org/clinvar/341338 ^@ NM_000362.4(TIMP3):c.-304G>A http://identifiers.org/clinvar/341888 ^@ NM_000262.2(NAGA):c.*1788_*1789delTT http://identifiers.org/clinvar/342038 ^@ NM_024105.3(ALG12):c.*51A>G http://identifiers.org/clinvar/387629 ^@ NM_003172.3(SURF1):c.833+3G>A http://identifiers.org/clinvar/381345 ^@ NM_000051.3(ATM):c.4777-15C>T http://identifiers.org/clinvar/378952 ^@ NM_000051.3(ATM):c.4842A>G (p.Leu1614=) http://identifiers.org/clinvar/381195 ^@ NM_006258.3(PRKG1):c.763-15G>T http://identifiers.org/clinvar/378902 ^@ NM_005343.3(HRAS):c.426C>T (p.Ile142=) http://identifiers.org/clinvar/387129 ^@ NM_015459.4(ATL3):c.1422C>G (p.Asn474Lys) http://identifiers.org/clinvar/379202 ^@ NM_000314.6(PTEN):c.254-6C>T http://identifiers.org/clinvar/378752 ^@ NM_000391.3(TPP1):c.-3A>G http://identifiers.org/clinvar/379702 ^@ NM_032578.3(MYPN):c.1892G>A (p.Arg631Lys) http://identifiers.org/clinvar/385390 ^@ NM_024698.5(SLC25A22):c.654G>A (p.Ala218=) http://identifiers.org/clinvar/392057 ^@ NM_006766.4(KAT6A):c.2437-3C>G http://identifiers.org/clinvar/381495 ^@ NM_004982.3(KCNJ8):c.465C>T (p.Ala155=) http://identifiers.org/clinvar/387079 ^@ NM_032667.6(BSCL2):c.468C>T (p.Leu156=) http://identifiers.org/clinvar/381295 ^@ NM_000059.3(BRCA2):c.801A>C (p.Gly267=) http://identifiers.org/clinvar/381946 ^@ NM_006231.3(POLE):c.3279C>T (p.Ala1093=) http://identifiers.org/clinvar/387529 ^@ NM_020822.2(KCNT1):c.*13C>T http://identifiers.org/clinvar/389568 ^@ NM_019892.5(INPP5E):c.1387+9G>A http://identifiers.org/clinvar/381795 ^@ NM_000059.3(BRCA2):c.8332-17T>C http://identifiers.org/clinvar/387829 ^@ NM_007327.3(GRIN1):c.630G>A (p.Glu210=) http://identifiers.org/clinvar/391757 ^@ NM_000834.3(GRIN2B):c.1555C>T (p.Arg519Ter) http://identifiers.org/clinvar/390768 ^@ NM_001376.4(DYNC1H1):c.2463G>A (p.Ala821=) http://identifiers.org/clinvar/379152 ^@ NM_000719.6(CACNA1C):c.4317C>T (p.Asn1439=) http://identifiers.org/clinvar/387429 ^@ NM_000719.6(CACNA1C):c.3489C>G (p.Gly1163=) http://identifiers.org/clinvar/381745 ^@ NM_014319.4(LEMD3):c.1873C>T (p.Arg625Ter) http://identifiers.org/clinvar/391907 ^@ NM_003276.2(TMPO):c.263G>A (p.Arg88Gln) http://identifiers.org/clinvar/382497 ^@ NM_002860.3(ALDH18A1):c.2195G>A (p.Arg732His) http://identifiers.org/clinvar/384790 ^@ NM_000059.3(BRCA2):c.300A>G (p.Lys100=) http://identifiers.org/clinvar/390268 ^@ NM_000059.3(BRCA2):c.8928C>T (p.Ser2976=) http://identifiers.org/clinvar/386729 ^@ NM_002693.2(POLG):c.2613C>T (p.Gly871=) http://identifiers.org/clinvar/384339 ^@ NM_005249.4(FOXG1):c.907G>A (p.Ala303Thr) http://identifiers.org/clinvar/379552 ^@ NM_000051.3(ATM):c.8152-17G>A http://identifiers.org/clinvar/390218 ^@ NM_002471.3(MYH6):c.3417A>G (p.Ser1139=) http://identifiers.org/clinvar/390068 ^@ NM_153603.3(COG7):c.1409+7C>G http://identifiers.org/clinvar/391607 ^@ NM_182758.3(WDR72):c.1739C>T (p.Ser580Leu) http://identifiers.org/clinvar/380693 ^@ NM_004863.3(SPTLC2):c.1176+7G>A http://identifiers.org/clinvar/386879 ^@ NM_016373.3(WWOX):c.173-11T>C http://identifiers.org/clinvar/379853 ^@ NM_000548.4(TSC2):c.3727G>T (p.Glu1243Ter) http://identifiers.org/clinvar/389668 ^@ NM_020778.4(ALPK3):c.5633C>T (p.Ala1878Val) http://identifiers.org/clinvar/387029 ^@ NM_000548.4(TSC2):c.4989+5G>A http://identifiers.org/clinvar/48347 ^@ NM_206933.2(USH2A):c.1036A>C (p.Asn346His) http://identifiers.org/clinvar/48397 ^@ NM_206933.2(USH2A):c.12343C>T (p.Arg4115Cys) http://identifiers.org/clinvar/44 ^@ NM_001083961.1(WDR62):c.3839_3855del17 (p.Gly1280Alafs) http://identifiers.org/clinvar/90 ^@ HPSE2, 1-BP INS, 57C http://identifiers.org/clinvar/146 ^@ NM_000274.3(OAT):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/357 ^@ NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter) http://identifiers.org/clinvar/371 ^@ NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) http://identifiers.org/clinvar/399 ^@ NM_019892.5(INPP5E):c.1304G>A (p.Arg435Gln) http://identifiers.org/clinvar/408 ^@ NM_001165974.1(UROC1):c.209T>C (p.Leu70Pro) http://identifiers.org/clinvar/535 ^@ NM_001142800.1(EYS):c.2260-51191_2992+45990del http://identifiers.org/clinvar/608 ^@ NM_000277.1(PAH):c.143T>C (p.Leu48Ser) http://identifiers.org/clinvar/617 ^@ NM_000277.1(PAH):c.1243G>A (p.Asp415Asn) http://identifiers.org/clinvar/970 ^@ fragile site, folic acid type, rare, fra(12)(q13.1) http://identifiers.org/clinvar/993 ^@ NM_000380.3(XPA):c.323G>T (p.Cys108Phe) http://identifiers.org/clinvar/1183 ^@ CYP11B1, IVS3DS, G-T, +16 http://identifiers.org/clinvar/1228 ^@ NM_006364.3(SEC23A):c.1144T>C (p.Phe382Leu) http://identifiers.org/clinvar/1279 ^@ NM_173660.4(DOK7):c.601C>T (p.Arg201Ter) http://identifiers.org/clinvar/1323 ^@ NM_001174089.1(SLC4A11):c.1147G>A (p.Glu383Lys) http://identifiers.org/clinvar/1369 ^@ NM_001142301.1(TMEM67):c.884A>C (p.Gln295Pro) http://identifiers.org/clinvar/1414 ^@ NM_001041.3(SI):c.350A>G (p.Gln117Arg) http://identifiers.org/clinvar/1504 ^@ nsv513790 http://identifiers.org/clinvar/1550 ^@ NM_000237.2(LPL):c.953A>G (p.Asn318Ser) http://identifiers.org/clinvar/1596 ^@ NM_144687.3(NLRP12):c.850C>T (p.Arg284Ter) http://identifiers.org/clinvar/1645 ^@ THAP1, 5-BP INS/3-BP DEL, NT134 http://identifiers.org/clinvar/1690 ^@ NM_002108.3(HAL):c.623G>T (p.Arg208Leu) http://identifiers.org/clinvar/1736 ^@ NM_001017420.2(ESCO2):c.505C>T (p.Arg169Ter) http://identifiers.org/clinvar/1787 ^@ NM_000102.3(CYP17A1):c.1040G>A (p.Arg347His) http://identifiers.org/clinvar/1831 ^@ NM_001023570.3(IQCB1):c.424_425delTT (p.Phe142Profs) http://identifiers.org/clinvar/1877 ^@ NM_000255.3(MUT):c.52C>T (p.Gln18Ter) http://identifiers.org/clinvar/1921 ^@ NM_022132.4(MCCC2):c.464G>A (p.Arg155Gln) http://identifiers.org/clinvar/1967 ^@ NM_000022.3(ADA):c.643G>A (p.Ala215Thr) http://identifiers.org/clinvar/2010 ^@ NM_001134831.1(AHI1):c.1051C>T (p.Arg351Ter) http://identifiers.org/clinvar/2056 ^@ NM_152443.2(RDH12):c.523T>C (p.Ser175Pro) http://identifiers.org/clinvar/2101 ^@ NM_001040716.1(PC):c.1748G>T (p.Arg583Leu) http://identifiers.org/clinvar/2466 ^@ NM_000026.3(ADSL):c.736A>G (p.Lys246Glu) http://identifiers.org/clinvar/2511 ^@ NM_000346.3(SOX9):c.517A>G (p.Lys173Glu) http://identifiers.org/clinvar/10137 ^@ F8, EX5DEL http://identifiers.org/clinvar/10182 ^@ F8, IVS5AS, A-G, -2 http://identifiers.org/clinvar/10227 ^@ NM_000132.3(F8):c.1682A>G (p.Asp561Gly) http://identifiers.org/clinvar/10272 ^@ NM_000132.3(F8):c.5325G>C (p.Leu1775Phe) http://identifiers.org/clinvar/10317 ^@ NM_000132.3(F8):c.6518C>T (p.Thr2173Ile) http://identifiers.org/clinvar/10363 ^@ NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) http://identifiers.org/clinvar/10412 ^@ NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) http://identifiers.org/clinvar/10462 ^@ NM_000495.4(COL4A5):c.1561G>T (p.Gly521Cys) http://identifiers.org/clinvar/10507 ^@ NG_009105.2:g.(14209_14212)_(15675_15678)del http://identifiers.org/clinvar/10553 ^@ NM_000351.5(STS):c.1337G>A (p.Cys446Tyr) http://identifiers.org/clinvar/11086 ^@ NM_001128834.2(PLP1):c.128C>T (p.Thr43Ile) http://identifiers.org/clinvar/11130 ^@ WAS, IVS6AS, G-A, -1 http://identifiers.org/clinvar/11177 ^@ EMD, 1-BP DEL, FS236TER http://identifiers.org/clinvar/11221 ^@ NM_004006.2(DMD):c.253C>T (p.Gln85Ter) http://identifiers.org/clinvar/11267 ^@ NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) http://identifiers.org/clinvar/11311 ^@ ABCD1, 1-BP DEL, 2204G http://identifiers.org/clinvar/11358 ^@ NM_000061.2(BTK):c.557dupA (p.Pro187Alafs) http://identifiers.org/clinvar/11402 ^@ NM_015884.3(MBTPS2):c.680A>T (p.His227Leu) http://identifiers.org/clinvar/11425 ^@ NM_022567.2(NYX):c.302T>C (p.Ile101Thr) http://identifiers.org/clinvar/11476 ^@ NM_001042537.1(SLC9A6):c.860_865delAAAGTG (p.Glu287_Ser288del) http://identifiers.org/clinvar/11527 ^@ NM_000047.2(ARSE):c.1475G>A (p.Cys492Tyr) http://identifiers.org/clinvar/12431 ^@ NM_000363.4(TNNI3):c.555C>G (p.Asn185Lys) http://identifiers.org/clinvar/12482 ^@ NM_000359.2(TGM1):c.479C>G (p.Ser160Cys) http://identifiers.org/clinvar/12532 ^@ NM_000660.6(TGFB1):c.241T>C (p.Tyr81His) http://identifiers.org/clinvar/12582 ^@ NM_004985.4(KRAS):c.35G>A (p.Gly12Asp) http://identifiers.org/clinvar/12633 ^@ NM_030751.5(ZEB1):c.233A>C (p.Asn78Thr) http://identifiers.org/clinvar/12684 ^@ NM_000549.4(TSHB):c.145G>A (p.Gly49Arg) http://identifiers.org/clinvar/12735 ^@ NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) http://identifiers.org/clinvar/12785 ^@ NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) http://identifiers.org/clinvar/12835 ^@ NM_001024858.2(SPTB):c.604T>C (p.Trp202Arg) http://identifiers.org/clinvar/12886 ^@ NM_006920.4(SCN1A):c.4935C>G (p.Ile1645Met) http://identifiers.org/clinvar/12936 ^@ HTR2A, 102T-C http://identifiers.org/clinvar/12987 ^@ NM_000540.2(RYR1):c.14647-1449A>G http://identifiers.org/clinvar/13037 ^@ NM_000539.3(RHO):c.158C>G (p.Pro53Arg) http://identifiers.org/clinvar/13089 ^@ NM_000321.2(RB1):c.2211G>A (p.Glu737=) http://identifiers.org/clinvar/13139 ^@ NM_000448.2(RAG1):c.2164G>A (p.Glu722Lys) http://identifiers.org/clinvar/13190 ^@ NM_006907.3(PYCR1):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/13241 ^@ NM_002743.3(PRKCSH):c.1240C>T (p.Gln414Ter) http://identifiers.org/clinvar/13292 ^@ NM_000141.4(FGFR2):c.940-3_946delinsACC http://identifiers.org/clinvar/13343 ^@ NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) http://identifiers.org/clinvar/13396 ^@ NM_000311.4(PRNP):c.350C>T (p.Ala117Val) http://identifiers.org/clinvar/13448 ^@ NM_000371.3(TTR):c.350C>G (p.Ala117Gly) http://identifiers.org/clinvar/13499 ^@ NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) http://identifiers.org/clinvar/13549 ^@ NM_006206.4(PDGFRA):c.1696_1713del18 (p.Ser566_Glu571del) http://identifiers.org/clinvar/36673 ^@ NM_000444.5(PHEX):c.1404+2T>G http://identifiers.org/clinvar/36727 ^@ NM_020630.4(RET):c.2080C>T (p.Arg694Trp) http://identifiers.org/clinvar/36778 ^@ NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) http://identifiers.org/clinvar/36828 ^@ NM_000545.6(HNF1A):c.731G>T (p.Arg244Ile) http://identifiers.org/clinvar/36878 ^@ NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) http://identifiers.org/clinvar/37041 ^@ NM_001077620.2(PRCD):c.64C>T (p.Arg22Ter) http://identifiers.org/clinvar/37109 ^@ NM_152296.4(ATP1A3):c.2431T>C (p.Ser811Pro) http://identifiers.org/clinvar/37244 ^@ NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) http://identifiers.org/clinvar/37319 ^@ NM_005050.3(ABCD4):c.956A>G (p.Tyr319Cys) http://identifiers.org/clinvar/37403 ^@ NM_007294.3(BRCA1):c.135-15C>G http://identifiers.org/clinvar/37455 ^@ NM_007294.3(BRCA1):c.2207A>C (p.Glu736Ala) http://identifiers.org/clinvar/37510 ^@ NM_007294.3(BRCA1):c.3130A>G (p.Ile1044Val) http://identifiers.org/clinvar/37566 ^@ NM_007294.3(BRCA1):c.4096+3A>G http://identifiers.org/clinvar/37618 ^@ NM_007294.3(BRCA1):c.4986+1G>T http://identifiers.org/clinvar/37673 ^@ NM_007294.3(BRCA1):c.5467+1G>A http://identifiers.org/clinvar/37727 ^@ NM_000059.3(BRCA2):c.1166C>T (p.Pro389Leu) http://identifiers.org/clinvar/37778 ^@ NM_000059.3(BRCA2):c.2240A>G (p.Glu747Gly) http://identifiers.org/clinvar/37832 ^@ NM_000059.3(BRCA2):c.3299A>T (p.Asn1100Ile) http://identifiers.org/clinvar/38307 ^@ NM_000168.5(GLI3):c.2139delC (p.Cys713Terfs) http://identifiers.org/clinvar/39688 ^@ NM_006383.3(CIB2):c.192G>C (p.Glu64Asp) http://identifiers.org/clinvar/39738 ^@ NM_005505.4(SCARB1):c.523A>G (p.Thr175Ala) http://identifiers.org/clinvar/39789 ^@ NM_001083614.1(EARS2):c.328G>A (p.Gly110Ser) http://identifiers.org/clinvar/39840 ^@ TWIST2, 1-BP DEL, 168C http://identifiers.org/clinvar/39983 ^@ NM_020964.2(EPG5):c.2575G>T (p.Glu859Ter) http://identifiers.org/clinvar/40115 ^@ NM_000297.3(PKD2):c.305_306insGAG (p.Glu102_Val103insArg) http://identifiers.org/clinvar/40247 ^@ NM_007215.3(POLG2):c.614C>G (p.Pro205Arg) http://identifiers.org/clinvar/40376 ^@ NM_004333.4(BRAF):c.1517+35G>C http://identifiers.org/clinvar/40444 ^@ NM_005343.3(HRAS):c.450+144C>T http://identifiers.org/clinvar/40512 ^@ NM_002834.4(PTPN11):c.417G>T (p.Glu139Asp) http://identifiers.org/clinvar/40570 ^@ NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) http://identifiers.org/clinvar/40632 ^@ NM_007373.3(SHOC2):c.-159T>C http://identifiers.org/clinvar/40715 ^@ NM_005633.3(SOS1):c.2998A>T (p.Ser1000Cys) http://identifiers.org/clinvar/40811 ^@ NM_030662.3(MAP2K2):c.603C>T (p.Leu201=) http://identifiers.org/clinvar/40995 ^@ NM_000095.2(COMP):c.1754C>T (p.Thr585Met) http://identifiers.org/clinvar/41055 ^@ NM_003611.2(OFD1):c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) http://identifiers.org/clinvar/41111 ^@ NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) http://identifiers.org/clinvar/41164 ^@ NM_003977.3(AIP):c.145G>A (p.Val49Met) http://identifiers.org/clinvar/41217 ^@ NM_003977.3(AIP):c.987C>T (p.Ser329=) http://identifiers.org/clinvar/51175 ^@ NM_000059.3(BRCA2):c.1689G>A (p.Trp563Ter) http://identifiers.org/clinvar/51227 ^@ NM_000059.3(BRCA2):c.1912T>G (p.Leu638Val) http://identifiers.org/clinvar/51278 ^@ NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) http://identifiers.org/clinvar/51329 ^@ NM_000059.3(BRCA2):c.26C>T (p.Pro9Leu) http://identifiers.org/clinvar/51379 ^@ NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) http://identifiers.org/clinvar/51429 ^@ NM_000059.3(BRCA2):c.3235delT (p.Ser1079Leufs) http://identifiers.org/clinvar/51481 ^@ NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) http://identifiers.org/clinvar/51532 ^@ NM_000059.3(BRCA2):c.3824_3827delTAGA (p.Ile1275Lysfs) http://identifiers.org/clinvar/51584 ^@ NM_000059.3(BRCA2):c.4037_4038delCT (p.Thr1346Serfs) http://identifiers.org/clinvar/51636 ^@ NM_000059.3(BRCA2):c.4372C>T (p.His1458Tyr) http://identifiers.org/clinvar/51687 ^@ NM_000059.3(BRCA2):c.4647_4650delAGAG (p.Lys1549Asnfs) http://identifiers.org/clinvar/51738 ^@ NM_000059.3(BRCA2):c.4901T>C (p.Phe1634Ser) http://identifiers.org/clinvar/51790 ^@ NM_000059.3(BRCA2):c.516+7A>G http://identifiers.org/clinvar/51841 ^@ NM_000059.3(BRCA2):c.5344C>A (p.Gln1782Lys) http://identifiers.org/clinvar/51894 ^@ NM_000059.3(BRCA2):c.5626G>T (p.Glu1876Ter) http://identifiers.org/clinvar/51946 ^@ NM_000059.3(BRCA2):c.5829_5830delTA (p.Lys1944Asnfs) http://identifiers.org/clinvar/51998 ^@ NM_000059.3(BRCA2):c.6065C>G (p.Ser2022Ter) http://identifiers.org/clinvar/52049 ^@ NM_000059.3(BRCA2):c.6296G>C (p.Arg2099Thr) http://identifiers.org/clinvar/52103 ^@ NM_000059.3(BRCA2):c.6447_6448delTA (p.Lys2150Serfs) http://identifiers.org/clinvar/52154 ^@ NM_000059.3(BRCA2):c.6678delA (p.Ala2227Glnfs) http://identifiers.org/clinvar/52204 ^@ NM_000059.3(BRCA2):c.6841+1delG http://identifiers.org/clinvar/52255 ^@ NM_000059.3(BRCA2):c.7047delT (p.Phe2349Leufs) http://identifiers.org/clinvar/52852 ^@ NM_000059.3(BRCA2):c.9500A>C (p.Glu3167Ala) http://identifiers.org/clinvar/52902 ^@ NM_000059.3(BRCA2):c.9816T>G (p.Asp3272Glu) http://identifiers.org/clinvar/52952 ^@ NM_000218.2(KCNQ1):c.1083_1088dupGAAGCA (p.Lys362_His363insGlnLys) http://identifiers.org/clinvar/53002 ^@ NM_000218.2(KCNQ1):c.1661T>C (p.Val554Ala) http://identifiers.org/clinvar/53052 ^@ NM_000218.2(KCNQ1):c.502G>A (p.Gly168Arg) http://identifiers.org/clinvar/53102 ^@ NM_000218.2(KCNQ1):c.776G>T (p.Arg259Leu) http://identifiers.org/clinvar/53153 ^@ NM_000218.2(KCNQ1):c.998_999delCT (p.Ser333Cysfs) http://identifiers.org/clinvar/53206 ^@ NM_000492.3(CFTR):c.1175T>C (p.Val392Ala) http://identifiers.org/clinvar/53258 ^@ NM_000492.3(CFTR):c.1453A>T (p.Ser485Cys) http://identifiers.org/clinvar/53309 ^@ NM_000492.3(CFTR):c.164+9A>T http://identifiers.org/clinvar/53359 ^@ NM_000492.3(CFTR):c.1720C>T (p.Pro574Ser) http://identifiers.org/clinvar/53409 ^@ NM_000492.3(CFTR):c.1882G>C (p.Gly628Arg) http://identifiers.org/clinvar/53461 ^@ NM_000492.3(CFTR):c.224G>T (p.Arg75Leu) http://identifiers.org/clinvar/53514 ^@ NM_000492.3(CFTR):c.2571G>A (p.Lys857=) http://identifiers.org/clinvar/53564 ^@ NM_000492.3(CFTR):c.276A>T (p.Glu92Asp) http://identifiers.org/clinvar/53614 ^@ NM_000492.3(CFTR):c.2989-2A>G http://identifiers.org/clinvar/53666 ^@ NM_000492.3(CFTR):c.3158C>T (p.Thr1053Ile) http://identifiers.org/clinvar/53717 ^@ NM_000492.3(CFTR):c.3315delG (p.Met1105Ilefs) http://identifiers.org/clinvar/53820 ^@ NM_000492.3(CFTR):c.3844T>C (p.Trp1282Arg) http://identifiers.org/clinvar/53872 ^@ NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) http://identifiers.org/clinvar/53923 ^@ NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys) http://identifiers.org/clinvar/53973 ^@ NM_000492.3(CFTR):c.490-116A>G http://identifiers.org/clinvar/54023 ^@ NM_000492.3(CFTR):c.601delG (p.Val201Cysfs) http://identifiers.org/clinvar/54075 ^@ NM_000492.3(CFTR):c.870-1113_870-1110delGAAT http://identifiers.org/clinvar/54125 ^@ NM_007294.3(BRCA1):c.1091delC (p.Pro364Leufs) http://identifiers.org/clinvar/54175 ^@ NM_007294.3(BRCA1):c.1251T>G (p.Asn417Lys) http://identifiers.org/clinvar/54225 ^@ NM_007294.3(BRCA1):c.1380delA (p.Phe461Leufs) http://identifiers.org/clinvar/54276 ^@ NM_007294.3(BRCA1):c.150delA (p.Lys50Asnfs) http://identifiers.org/clinvar/57141 ^@ GRCh38/hg38 8q23.1(chr8:106784262-107356237)x3 http://identifiers.org/clinvar/57191 ^@ GRCh38/hg38 15q26.3(chr15:101642152-101843270)x3 http://identifiers.org/clinvar/57244 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-7776150)x0 http://identifiers.org/clinvar/57298 ^@ GRCh38/hg38 5q14.3(chr5:89052330-89487275)x1 http://identifiers.org/clinvar/57351 ^@ GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3 http://identifiers.org/clinvar/57402 ^@ GRCh38/hg38 5p15.33(chr5:138272-710438)x3 http://identifiers.org/clinvar/101169 ^@ NM_000090.3(COL3A1):c.1974_1977+4del (p.Gly642_Pro659del) http://identifiers.org/clinvar/101219 ^@ NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384) http://identifiers.org/clinvar/101269 ^@ NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) http://identifiers.org/clinvar/101319 ^@ NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del) http://identifiers.org/clinvar/101369 ^@ NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg) http://identifiers.org/clinvar/101419 ^@ NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg) http://identifiers.org/clinvar/101469 ^@ NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) http://identifiers.org/clinvar/101530 ^@ NM_001013703.3(EIF2AK4):c.860-1G>A http://identifiers.org/clinvar/102482 ^@ NM_000277.1(PAH):c.1031G>T (p.Gly344Val) http://identifiers.org/clinvar/102538 ^@ NM_000277.1(PAH):c.1157A>G (p.Tyr386Cys) http://identifiers.org/clinvar/102591 ^@ NM_000277.1(PAH):c.1316-15T>C http://identifiers.org/clinvar/102645 ^@ NM_000277.1(PAH):c.283A>T (p.Ile95Phe) http://identifiers.org/clinvar/102697 ^@ NM_000277.1(PAH):c.482T>C (p.Phe161Ser) http://identifiers.org/clinvar/102747 ^@ NM_000277.1(PAH):c.593_614del22 (p.Tyr198Cysfs) http://identifiers.org/clinvar/102798 ^@ NM_000277.1(PAH):c.716G>A (p.Gly239Asp) http://identifiers.org/clinvar/102848 ^@ NM_000277.1(PAH):c.810_814delACATG (p.His271Ilefs) http://identifiers.org/clinvar/102900 ^@ NM_000277.1(PAH):c.929_939delCTCTGGGTGCA (p.Leu311Terfs) http://identifiers.org/clinvar/102958 ^@ NM_178844.3(NLRC3):c.2940-184G>T http://identifiers.org/clinvar/103008 ^@ NM_000246.3(CIITA):c.481+167G>A http://identifiers.org/clinvar/103058 ^@ NM_001174081.2(NLRP2):c.239A>C (p.His80Pro) http://identifiers.org/clinvar/103108 ^@ NM_006092.2(NOD1):c.2697G>C (p.Lys899Asn) http://identifiers.org/clinvar/103158 ^@ NM_032206.4(NLRC5):c.2075+154T>C http://identifiers.org/clinvar/103208 ^@ NM_032206.4(NLRC5):c.5321+11G>A http://identifiers.org/clinvar/125989 ^@ NM_000059.3(BRCA2):c.2629C>G (p.Pro877Ala) http://identifiers.org/clinvar/126053 ^@ NM_000059.3(BRCA2):c.4809_4810insA (p.Leu1604Thrfs) http://identifiers.org/clinvar/126126 ^@ NM_000059.3(BRCA2):c.496C>T (p.His166Tyr) http://identifiers.org/clinvar/126185 ^@ U43746.1:n.8861-24_del26 http://identifiers.org/clinvar/126246 ^@ NM_001080522.2(CC2D2A):c.541-25G>T http://identifiers.org/clinvar/126471 ^@ NM_021625.4(TRPV4):c.1812C>G (p.Ile604Met) http://identifiers.org/clinvar/126541 ^@ NM_000406.2(GNRHR):c.94A>G (p.Thr32Ala) http://identifiers.org/clinvar/126608 ^@ NM_024675.3(PALB2):c.1572A>G (p.Ser524=) http://identifiers.org/clinvar/126660 ^@ NM_024675.3(PALB2):c.2559C>T (p.Gly853=) http://identifiers.org/clinvar/126710 ^@ NM_024675.3(PALB2):c.3113+131G>T http://identifiers.org/clinvar/126761 ^@ NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) http://identifiers.org/clinvar/126812 ^@ NM_000321.2(RB1):c.446C>G (p.Ser149Ter) http://identifiers.org/clinvar/126865 ^@ NM_001622.2(AHSG):c.574-298T>G http://identifiers.org/clinvar/126921 ^@ NM_001127464.2(ZNF469):c.2643C>G (p.Ser881=) http://identifiers.org/clinvar/126971 ^@ NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) http://identifiers.org/clinvar/127021 ^@ NM_005591.3(MRE11):c.*1228A>G http://identifiers.org/clinvar/127073 ^@ NM_000806.5(GABRA1):c.751G>A (p.Gly251Ser) http://identifiers.org/clinvar/127142 ^@ NM_153485.2(NUP155):c.1172G>A (p.Arg391His) http://identifiers.org/clinvar/127243 ^@ NM_001111283.2(IGF1):c.292C>T (p.Arg98Trp) http://identifiers.org/clinvar/127295 ^@ NM_000038.5(APC):c.4360A>G (p.Lys1454Glu) http://identifiers.org/clinvar/127345 ^@ NM_000051.3(ATM):c.2269G>A (p.Gly757Arg) http://identifiers.org/clinvar/127395 ^@ NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) http://identifiers.org/clinvar/127445 ^@ NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) http://identifiers.org/clinvar/127496 ^@ NM_000057.3(BLM):c.3200G>A (p.Cys1067Tyr) http://identifiers.org/clinvar/127546 ^@ NM_000136.2(FANCC):c.828A>G (p.Ile276Met) http://identifiers.org/clinvar/127596 ^@ NM_000179.2(MSH6):c.3976A>T (p.Met1326Leu) http://identifiers.org/clinvar/127756 ^@ NM_000535.6(PMS2):c.1238_1239delAAinsGG (p.Lys413Arg) http://identifiers.org/clinvar/127807 ^@ NM_000546.5(TP53):c.328delC (p.Arg110Valfs) http://identifiers.org/clinvar/161011 ^@ GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 http://identifiers.org/clinvar/161061 ^@ GRCh38/hg38 4q22.1-22.2(chr4:92513191-94071223)x3 http://identifiers.org/clinvar/161111 ^@ NM_005214.4(CTLA4):c.567+5G>C http://identifiers.org/clinvar/161188 ^@ NM_000492.3(CFTR):c.1210-12_1210-6T[9] http://identifiers.org/clinvar/242627 ^@ NM_005154.4(USP8):c.2150A>G (p.Tyr717Cys) http://identifiers.org/clinvar/178941 ^@ NM_013296.4(GPSM2):c.249A>G (p.Glu83=) http://identifiers.org/clinvar/179691 ^@ NM_001035.2(RYR2):c.10495-14A>G http://identifiers.org/clinvar/178690 ^@ NM_004700.3(KCNQ4):c.829G>A (p.Gly277Arg) http://identifiers.org/clinvar/179041 ^@ NM_133378.4(TTN):c.76274C>A (p.Thr25425Asn) http://identifiers.org/clinvar/166466 ^@ NM_206933.2(USH2A):c.8993C>G (p.Ser2998Cys) http://identifiers.org/clinvar/178891 ^@ NM_133378.4(TTN):c.98015G>A (p.Arg32672Gln) http://identifiers.org/clinvar/179291 ^@ NM_133378.4(TTN):c.31998C>T (p.Phe10666=) http://identifiers.org/clinvar/166234 ^@ NM_133432.3(TTN):c.12551T>G (p.Ile4184Ser) http://identifiers.org/clinvar/179441 ^@ NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) http://identifiers.org/clinvar/166284 ^@ NM_001256850.1(TTN):c.10360+1369C>T http://identifiers.org/clinvar/178991 ^@ NM_005219.4(DIAPH1):c.2525A>G (p.Gln842Arg) http://identifiers.org/clinvar/166341 ^@ NM_133378.4(TTN):c.2084T>C (p.Val695Ala) http://identifiers.org/clinvar/178740 ^@ NM_001369.2(DNAH5):c.13359A>G (p.Thr4453=) http://identifiers.org/clinvar/179391 ^@ NM_005219.4(DIAPH1):c.3099T>C (p.Asp1033=) http://identifiers.org/clinvar/179791 ^@ NM_198056.2(SCN5A):c.152C>T (p.Ala51Val) http://identifiers.org/clinvar/179091 ^@ NM_016203.3(PRKAG2):c.807G>A (p.Lys269=) http://identifiers.org/clinvar/178840 ^@ NM_032119.3(ADGRV1):c.-11G>A http://identifiers.org/clinvar/198793 ^@ NM_004369.3(COL6A3):c.3446G>A (p.Arg1149Gln) http://identifiers.org/clinvar/198846 ^@ NM_006790.2(MYOT):c.1152A>G (p.Arg384=) http://identifiers.org/clinvar/217360 ^@ NM_003159.2(CDKL5):c.470C>T (p.Ala157Val) http://identifiers.org/clinvar/200949 ^@ NM_170707.3(LMNA):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/201198 ^@ NM_001035.2(RYR2):c.704G>A (p.Arg235Lys) http://identifiers.org/clinvar/201254 ^@ NM_001035.2(RYR2):c.5170G>A (p.Glu1724Lys) http://identifiers.org/clinvar/201308 ^@ NM_001035.2(RYR2):c.11140T>G (p.Phe3714Val) http://identifiers.org/clinvar/201364 ^@ NM_001035.2(RYR2):c.14869T>A (p.Cys4957Ser) http://identifiers.org/clinvar/201534 ^@ NM_198056.2(SCN5A):c.5297T>A (p.Met1766Lys) http://identifiers.org/clinvar/201591 ^@ NM_198056.2(SCN5A):c.4338G>A (p.Met1446Ile) http://identifiers.org/clinvar/201421 ^@ NM_198056.2(SCN5A):c.3540G>A (p.Ala1180=) http://identifiers.org/clinvar/201475 ^@ NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) http://identifiers.org/clinvar/200501 ^@ NM_000238.3(KCNH2):c.2780G>T (p.Trp927Leu) http://identifiers.org/clinvar/200747 ^@ NM_000238.3(KCNH2):c.1881C>A (p.Phe627Leu) http://identifiers.org/clinvar/200636 ^@ NM_000238.3(KCNH2):c.1423_1425delTAC (p.Tyr475del) http://identifiers.org/clinvar/201131 ^@ NM_020975.4(RET):c.2542A>G (p.Met848Val) http://identifiers.org/clinvar/200889 ^@ NM_000218.2(KCNQ1):c.165_187del23 (p.Gly57Cysfs) http://identifiers.org/clinvar/200835 ^@ NM_000218.2(KCNQ1):c.1033-2A>C http://identifiers.org/clinvar/201079 ^@ NM_002474.2(MYH11):c.4735G>A (p.Asp1579Asn) http://identifiers.org/clinvar/201025 ^@ NM_002474.2(MYH11):c.2520+8C>A http://identifiers.org/clinvar/201648 ^@ NM_001103.3(ACTN2):c.2377G>A (p.Glu793Lys) http://identifiers.org/clinvar/201922 ^@ NM_144573.3(NEXN):c.1094C>G (p.Ser365Cys) http://identifiers.org/clinvar/201703 ^@ NM_001927.3(DES):c.832C>T (p.Arg278Trp) http://identifiers.org/clinvar/202037 ^@ NM_002667.4(PLN):c.26G>A (p.Arg9His) http://identifiers.org/clinvar/201867 ^@ NM_032578.3(MYPN):c.112T>A (p.Ser38Thr) http://identifiers.org/clinvar/201978 ^@ NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) http://identifiers.org/clinvar/201814 ^@ NM_002230.2(JUP):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/202094 ^@ NM_000116.4(TAZ):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/201759 ^@ NM_004006.2(DMD):c.2623-1G>T http://identifiers.org/clinvar/203088 ^@ NM_001256850.1(TTN):c.100055C>T (p.Thr33352Met) http://identifiers.org/clinvar/203038 ^@ NM_001256850.1(TTN):c.93530G>A (p.Arg31177Lys) http://identifiers.org/clinvar/202988 ^@ NM_001256850.1(TTN):c.87479C>T (p.Ala29160Val) http://identifiers.org/clinvar/202938 ^@ NM_001256850.1(TTN):c.82328C>A (p.Pro27443His) http://identifiers.org/clinvar/233117 ^@ NM_000038.5(APC):c.6363_6365delTGC (p.Ala2122del) http://identifiers.org/clinvar/232817 ^@ NM_000038.5(APC):c.6950T>C (p.Leu2317Ser) http://identifiers.org/clinvar/231966 ^@ NM_005732.3(RAD50):c.2204T>A (p.Met735Lys) http://identifiers.org/clinvar/232116 ^@ NM_000535.6(PMS2):c.2499C>T (p.His833=) http://identifiers.org/clinvar/231666 ^@ NM_000535.6(PMS2):c.1884A>G (p.Arg628=) http://identifiers.org/clinvar/231866 ^@ NM_000535.6(PMS2):c.314G>A (p.Gly105Asp) http://identifiers.org/clinvar/230627 ^@ NM_002485.4(NBN):c.660A>G (p.Gln220=) http://identifiers.org/clinvar/230177 ^@ NM_002485.4(NBN):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/232366 ^@ NM_000077.4(CDKN2A):c.278C>G (p.Thr93Arg) http://identifiers.org/clinvar/231916 ^@ NM_000314.6(PTEN):c.103A>G (p.Met35Val) http://identifiers.org/clinvar/232166 ^@ NM_000051.3(ATM):c.984_986delTAG (p.Ser328del) http://identifiers.org/clinvar/232416 ^@ NM_000051.3(ATM):c.3565C>T (p.Leu1189Phe) http://identifiers.org/clinvar/234109 ^@ NM_000051.3(ATM):c.3596A>G (p.Glu1199Gly) http://identifiers.org/clinvar/232566 ^@ NM_000051.3(ATM):c.4258_4260delCTT (p.Leu1420del) http://identifiers.org/clinvar/233267 ^@ NM_000051.3(ATM):c.7189C>T (p.Gln2397Ter) http://identifiers.org/clinvar/230427 ^@ NM_000051.3(ATM):c.8248T>A (p.Leu2750Ile) http://identifiers.org/clinvar/234209 ^@ NM_000051.3(ATM):c.8471G>A (p.Cys2824Tyr) http://identifiers.org/clinvar/232767 ^@ NM_000059.3(BRCA2):c.3688T>G (p.Ser1230Ala) http://identifiers.org/clinvar/233067 ^@ NM_000059.3(BRCA2):c.8457T>C (p.Asp2819=) http://identifiers.org/clinvar/229877 ^@ NM_000059.3(BRCA2):c.9995C>A (p.Ser3332Tyr) http://identifiers.org/clinvar/230327 ^@ NM_024675.3(PALB2):c.3306C>T (p.Ser1102=) http://identifiers.org/clinvar/232717 ^@ NM_024675.3(PALB2):c.2919A>G (p.Thr973=) http://identifiers.org/clinvar/232316 ^@ NM_004360.4(CDH1):c.158G>C (p.Gly53Ala) http://identifiers.org/clinvar/231716 ^@ NM_004360.4(CDH1):c.2249A>G (p.Asp750Gly) http://identifiers.org/clinvar/230377 ^@ NM_144997.5(FLCN):c.810C>A (p.Thr270=) http://identifiers.org/clinvar/230227 ^@ NM_001042492.2(NF1):c.1352T>C (p.Val451Ala) http://identifiers.org/clinvar/232516 ^@ NM_001042492.2(NF1):c.1519T>C (p.Leu507=) http://identifiers.org/clinvar/233017 ^@ NM_001042492.2(NF1):c.1714delG (p.Glu572Argfs) http://identifiers.org/clinvar/229977 ^@ NM_001042492.2(NF1):c.2747A>G (p.Asn916Ser) http://identifiers.org/clinvar/232617 ^@ NM_001042492.2(NF1):c.3074G>A (p.Arg1025Lys) http://identifiers.org/clinvar/230677 ^@ NM_001042492.2(NF1):c.6013G>A (p.Asp2005Asn) http://identifiers.org/clinvar/232216 ^@ NM_001042492.2(NF1):c.7416T>C (p.Pro2472=) http://identifiers.org/clinvar/231516 ^@ NM_002878.3(RAD51D):c.22C>G (p.Leu8Val) http://identifiers.org/clinvar/231566 ^@ NM_007294.3(BRCA1):c.4286A>G (p.Tyr1429Cys) http://identifiers.org/clinvar/230277 ^@ NM_007294.3(BRCA1):c.3160G>A (p.Val1054Met) http://identifiers.org/clinvar/233217 ^@ NM_007294.3(BRCA1):c.2236G>T (p.Asp746Tyr) http://identifiers.org/clinvar/231616 ^@ NM_058216.2(RAD51C):c.158C>G (p.Ser53Cys) http://identifiers.org/clinvar/232667 ^@ NM_058216.2(RAD51C):c.336G>C (p.Gly112=) http://identifiers.org/clinvar/230577 ^@ NM_058216.2(RAD51C):c.705+1G>A http://identifiers.org/clinvar/234159 ^@ NM_032043.2(BRIP1):c.408A>G (p.Ala136=) http://identifiers.org/clinvar/234059 ^@ NM_000546.5(TP53):c.1066G>C (p.Gly356Arg) http://identifiers.org/clinvar/230477 ^@ NM_000546.5(TP53):c.401T>G (p.Phe134Cys) http://identifiers.org/clinvar/229927 ^@ NM_000546.5(TP53):c.12G>A (p.Pro4=) http://identifiers.org/clinvar/232867 ^@ NM_007194.3(CHEK2):c.1351G>A (p.Val451Ile) http://identifiers.org/clinvar/229727 ^@ NM_007194.3(CHEK2):c.414A>C (p.Thr138=) http://identifiers.org/clinvar/234983 ^@ NM_004281.3(BAG3):c.784G>A (p.Ala262Thr) http://identifiers.org/clinvar/235034 ^@ NM_000257.3(MYH7):c.4519+1G>C http://identifiers.org/clinvar/235084 ^@ NM_023110.2(FGFR1):c.749G>C (p.Arg250Pro) http://identifiers.org/clinvar/235220 ^@ NM_001127464.2(ZNF469):c.7403G>A (p.Arg2468Gln) http://identifiers.org/clinvar/235273 ^@ NM_032444.2(SLX4):c.2824G>C (p.Glu942Gln) http://identifiers.org/clinvar/235327 ^@ NM_000426.3(LAMA2):c.6128A>G (p.Gln2043Arg) http://identifiers.org/clinvar/235380 ^@ NM_014363.5(SACS):c.4118C>T (p.Ala1373Val) http://identifiers.org/clinvar/235434 ^@ NC_012920.1:m.4023T>C http://identifiers.org/clinvar/235488 ^@ NM_020988.2(GNAO1):c.983A>G (p.Asp328Gly) http://identifiers.org/clinvar/240956 ^@ NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg) http://identifiers.org/clinvar/238862 ^@ NM_001267550.2(TTN):c.89494G>C (p.Asp29832His) http://identifiers.org/clinvar/238812 ^@ NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe) http://identifiers.org/clinvar/238762 ^@ NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe) http://identifiers.org/clinvar/238712 ^@ NM_001267550.2(TTN):c.180T>C (p.Asp60=) http://identifiers.org/clinvar/241006 ^@ NM_015120.4(ALMS1):c.614A>C (p.Glu205Ala) http://identifiers.org/clinvar/238112 ^@ NM_000551.3(VHL):c.585G>C (p.Gln195His) http://identifiers.org/clinvar/238612 ^@ NM_001166110.1(PALLD):c.496A>C (p.Thr166Pro) http://identifiers.org/clinvar/240356 ^@ NM_006206.4(PDGFRA):c.669C>T (p.Thr223=) http://identifiers.org/clinvar/238962 ^@ NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) http://identifiers.org/clinvar/239413 ^@ NM_002890.2(RASA1):c.2909_2913dupTTTTA (p.Asp972Phefs) http://identifiers.org/clinvar/240706 ^@ NM_006772.2(SYNGAP1):c.2016G>A (p.Thr672=) http://identifiers.org/clinvar/241406 ^@ NM_021930.5(RINT1):c.2165G>A (p.Arg722Lys) http://identifiers.org/clinvar/238912 ^@ NM_001277115.1(DNAH11):c.3609T>C (p.Tyr1203=) http://identifiers.org/clinvar/258515 ^@ NM_001999.3(FBN2):c.2989+38A>C http://identifiers.org/clinvar/258065 ^@ NM_001369.2(DNAH5):c.9147T>C (p.Asn3049=) http://identifiers.org/clinvar/258015 ^@ NM_001369.2(DNAH5):c.2708A>C (p.Asn903Thr) http://identifiers.org/clinvar/256826 ^@ NM_000816.3(GABRG2):c.90G>C (p.Leu30=) http://identifiers.org/clinvar/263044 ^@ NM_182925.4(FLT4):c.3198C>T (p.Pro1066=) http://identifiers.org/clinvar/261555 ^@ NM_022132.4(MCCC2):c.1373+27A>G http://identifiers.org/clinvar/261255 ^@ NM_020381.3(PDSS2):c.93C>G (p.Thr31=) http://identifiers.org/clinvar/260855 ^@ NM_017651.4(AHI1):c.3165+42G>C http://identifiers.org/clinvar/261105 ^@ NM_019105.6(TNXB):c.11258-48A>G http://identifiers.org/clinvar/261155 ^@ NM_019105.6(TNXB):c.7235C>T (p.Pro2412Leu) http://identifiers.org/clinvar/261055 ^@ NM_018718.2(CEP41):c.575-14delT http://identifiers.org/clinvar/257915 ^@ NM_001277115.1(DNAH11):c.6041+18T>C http://identifiers.org/clinvar/257865 ^@ NM_001277115.1(DNAH11):c.12964G>A (p.Ala4322Thr) http://identifiers.org/clinvar/260755 ^@ NM_016616.4(NME8):c.1247+34C>T http://identifiers.org/clinvar/258165 ^@ NM_001540.3(HSPB1):c.-19C>T http://identifiers.org/clinvar/263094 ^@ NM_194456.1(KRIT1):c.1326C>G (p.Thr442=) http://identifiers.org/clinvar/261305 ^@ NM_020476.2(ANK1):c.3224C>T (p.Thr1075Ile) http://identifiers.org/clinvar/260905 ^@ NM_017780.3(CHD7):c.4644+36C>T http://identifiers.org/clinvar/262744 ^@ NM_153704.5(TMEM67):c.2199T>C (p.Tyr733=) http://identifiers.org/clinvar/259115 ^@ NM_003640.4(IKBKAP):c.741-15dupT http://identifiers.org/clinvar/260805 ^@ NM_016952.4(CDON):c.76+21G>A http://identifiers.org/clinvar/258965 ^@ NM_003156.3(STIM1):c.*10G>C http://identifiers.org/clinvar/258565 ^@ NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) http://identifiers.org/clinvar/257965 ^@ NM_001360.2(DHCR7):c.321+34C>A http://identifiers.org/clinvar/258815 ^@ NM_002834.4(PTPN11):c.1448-38G>C http://identifiers.org/clinvar/258215 ^@ NM_001844.4(COL2A1):c.1681-38G>A http://identifiers.org/clinvar/261755 ^@ NM_024685.3(BBS10):c.1669A>G (p.Ile557Val) http://identifiers.org/clinvar/258665 ^@ NM_002469.2(MYF6):c.*19C>A http://identifiers.org/clinvar/258265 ^@ NM_001845.5(COL4A1):c.859-10T>C http://identifiers.org/clinvar/261605 ^@ NM_022489.3(INF2):c.1949+16A>G http://identifiers.org/clinvar/258715 ^@ NM_002471.3(MYH6):c.5598A>G (p.Leu1866=) http://identifiers.org/clinvar/257126 ^@ NM_001024858.2(SPTB):c.4779A>G (p.Ala1593=) http://identifiers.org/clinvar/261355 ^@ NM_020806.4(GPHN):c.65-9T>C http://identifiers.org/clinvar/332561 ^@ NM_003659.3(AGPS):c.*1878_*1883delGTATAT http://identifiers.org/clinvar/332611 ^@ NM_003690.4(PRKRA):c.*573_*575dupTGT http://identifiers.org/clinvar/333350 ^@ NM_001006657.1(WDR35):c.*1129C>T http://identifiers.org/clinvar/336191 ^@ NM_000341.3(SLC3A1):c.478G>C (p.Val160Leu) http://identifiers.org/clinvar/336241 ^@ NM_001430.4(EPAS1):c.218-11C>G http://identifiers.org/clinvar/336341 ^@ NM_139279.5(MCFD2):c.*2163A>G http://identifiers.org/clinvar/336548 ^@ NM_001135659.2(NRXN1):c.2818A>C (p.Arg940=) http://identifiers.org/clinvar/336648 ^@ NM_001039348.2(EFEMP1):c.-494C>G http://identifiers.org/clinvar/333400 ^@ NM_001006657.1(WDR35):c.847G>A (p.Val283Met) http://identifiers.org/clinvar/336698 ^@ NM_002618.3(PEX13):c.*1998T>C http://identifiers.org/clinvar/333450 ^@ NM_032977.3(CASP10):c.*657G>C http://identifiers.org/clinvar/336748 ^@ NM_015910.5(WDPCP):c.*604_*605delCA http://identifiers.org/clinvar/333500 ^@ NM_001228.4(CASP8):c.539A>G (p.Lys180Arg) http://identifiers.org/clinvar/333550 ^@ NM_001044385.2(TMEM237):c.*1151C>T http://identifiers.org/clinvar/333950 ^@ NM_015040.3(PIKFYVE):c.*777A>G http://identifiers.org/clinvar/336848 ^@ NM_002056.3(GFPT1):c.*1461T>G http://identifiers.org/clinvar/336898 ^@ NM_001002755.2(NFU1):c.-119G>A http://identifiers.org/clinvar/336141 ^@ NM_133259.3(LRPPRC):c.*399G>A http://identifiers.org/clinvar/337048 ^@ NM_080916.2(DGUOK):c.592-9delG http://identifiers.org/clinvar/334151 ^@ NM_000384.2(APOB):c.3712C>A (p.Leu1238Ile) http://identifiers.org/clinvar/336291 ^@ NM_001430.4(EPAS1):c.*527G>T http://identifiers.org/clinvar/334000 ^@ NM_001608.3(ACADL):c.233+13T>C http://identifiers.org/clinvar/337198 ^@ NM_000821.6(GGCX):c.*3516_*3517dupTT http://identifiers.org/clinvar/336498 ^@ NM_001135659.2(NRXN1):c.*3123C>T http://identifiers.org/clinvar/334202 ^@ NM_000465.3(BARD1):c.-83C>T http://identifiers.org/clinvar/334252 ^@ NM_173076.2(ABCA12):c.3248C>G (p.Ala1083Gly) http://identifiers.org/clinvar/334302 ^@ NM_014140.3(SMARCAL1):c.*13G>T http://identifiers.org/clinvar/336598 ^@ NM_001135659.2(NRXN1):c.-1459_-1452dupCTCTCTCT http://identifiers.org/clinvar/337498 ^@ NM_017849.3(TMEM127):c.*249G>A http://identifiers.org/clinvar/334051 ^@ NM_001875.4(CPS1):c.*946C>T http://identifiers.org/clinvar/336798 ^@ NM_002056.3(GFPT1):c.*4944A>G http://identifiers.org/clinvar/342488 ^@ NM_000551.3(VHL):c.*2812A>C http://identifiers.org/clinvar/337148 ^@ NM_003849.3(SUCLG1):c.*207A>G http://identifiers.org/clinvar/342588 ^@ NM_198196.2(CD96):c.*2090A>G http://identifiers.org/clinvar/334552 ^@ NM_181457.3(PAX3):c.*181C>T http://identifiers.org/clinvar/342638 ^@ NM_020754.3(ARHGAP31):c.1044C>T (p.Asp348=) http://identifiers.org/clinvar/334602 ^@ NM_003590.4(CUL3):c.*2192T>C http://identifiers.org/clinvar/337298 ^@ NM_198843.2(SFTPB):c.*30C>T http://identifiers.org/clinvar/337398 ^@ NM_004836.6(EIF2AK3):c.*175A>T http://identifiers.org/clinvar/337448 ^@ NM_017849.3(TMEM127):c.*3209A>G http://identifiers.org/clinvar/342888 ^@ NM_053025.3(MYLK):c.2589G>A (p.Glu863=) http://identifiers.org/clinvar/342938 ^@ NM_000373.3(UMPS):c.*56delT http://identifiers.org/clinvar/337648 ^@ NM_001298.2(CNGA3):c.-287C>T http://identifiers.org/clinvar/342988 ^@ NM_000373.3(UMPS):c.*2716T>C http://identifiers.org/clinvar/343038 ^@ NM_000373.3(UMPS):c.*4862A>G http://identifiers.org/clinvar/343138 ^@ NM_032638.4(GATA2):c.724A>G (p.Thr242Ala) http://identifiers.org/clinvar/343238 ^@ NM_052985.3(IFT122):c.1303C>T (p.Arg435Trp) http://identifiers.org/clinvar/342738 ^@ NM_000187.3(HGD):c.1176C>T (p.Ala392=) http://identifiers.org/clinvar/342838 ^@ NM_053025.3(MYLK):c.*1041G>T http://identifiers.org/clinvar/350607 ^@ NM_005573.3(LMNB1):c.-382C>G http://identifiers.org/clinvar/357433 ^@ NM_138694.3(PKHD1):c.6866-5A>G http://identifiers.org/clinvar/357483 ^@ NM_018100.3(EFHC1):c.1194T>C (p.Phe398=) http://identifiers.org/clinvar/350657 ^@ NM_032446.2(MEGF10):c.1876C>G (p.Gln626Glu) http://identifiers.org/clinvar/357533 ^@ NM_001723.5(DST):c.*603A>G http://identifiers.org/clinvar/350807 ^@ NM_003060.3(SLC22A5):c.-139G>T http://identifiers.org/clinvar/350707 ^@ NM_032446.2(MEGF10):c.*2663T>C http://identifiers.org/clinvar/350907 ^@ NM_001369.2(DNAH5):c.*1342T>G http://identifiers.org/clinvar/350857 ^@ NM_014402.4(UQCRQ):c.*979G>A http://identifiers.org/clinvar/357833 ^@ NM_014989.5(RIMS1):c.813-14T>G http://identifiers.org/clinvar/350957 ^@ NM_017415.2(KLHL3):c.*2023G>C http://identifiers.org/clinvar/358083 ^@ NM_181714.3(LCA5):c.*634A>C http://identifiers.org/clinvar/358133 ^@ NM_022726.3(ELOVL4):c.*609G>A http://identifiers.org/clinvar/358183 ^@ NM_183050.3(BCKDHB):c.*559_*560dupTT http://identifiers.org/clinvar/355294 ^@ NM_000426.3(LAMA2):c.7057C>T (p.Arg2353Cys) http://identifiers.org/clinvar/351107 ^@ NM_022464.4(SIL1):c.-98C>T http://identifiers.org/clinvar/355394 ^@ NM_006208.2(ENPP1):c.*1559G>T http://identifiers.org/clinvar/358583 ^@ NM_000108.4(DLD):c.*947G>T http://identifiers.org/clinvar/355494 ^@ NM_017651.4(AHI1):c.*68C>T http://identifiers.org/clinvar/355544 ^@ NM_000288.3(PEX7):c.*306T>G http://identifiers.org/clinvar/355744 ^@ NM_203395.2(IYD):c.*2815G>A http://identifiers.org/clinvar/358883 ^@ NM_018718.2(CEP41):c.*5102G>A http://identifiers.org/clinvar/358933 ^@ NM_018718.2(CEP41):c.*705G>A http://identifiers.org/clinvar/351796 ^@ NM_024577.3(SH3TC2):c.*6104C>T http://identifiers.org/clinvar/356344 ^@ NM_006929.4(SKIV2L):c.3070-7T>C http://identifiers.org/clinvar/352454 ^@ NM_000337.5(SGCD):c.*8380A>G http://identifiers.org/clinvar/352604 ^@ NM_000806.5(GABRA1):c.*302A>G http://identifiers.org/clinvar/360072 ^@ NM_198428.2(BBS9):c.2593A>G (p.Thr865Ala) http://identifiers.org/clinvar/360222 ^@ NM_000168.5(GLI3):c.4524C>T (p.Ala1508=) http://identifiers.org/clinvar/352554 ^@ NM_002187.2(IL12B):c.*1095C>A http://identifiers.org/clinvar/352754 ^@ NM_001017995.2(SH3PXD2B):c.*2885A>T http://identifiers.org/clinvar/360422 ^@ NM_014855.2(AP5Z1):c.*3005delC http://identifiers.org/clinvar/360522 ^@ NM_004577.3(PSPH):c.-228C>G http://identifiers.org/clinvar/352954 ^@ NM_003052.4(SLC34A1):c.110-6C>T http://identifiers.org/clinvar/360572 ^@ NM_000048.3(ASL):c.*265C>T http://identifiers.org/clinvar/360622 ^@ NM_153033.4(KCTD7):c.*2805C>T http://identifiers.org/clinvar/353004 ^@ NM_000505.3(F12):c.-3G>A http://identifiers.org/clinvar/352854 ^@ NM_002449.4(MSX2):c.*658C>T http://identifiers.org/clinvar/352904 ^@ NM_022455.4(NSD1):c.*1116G>A http://identifiers.org/clinvar/357333 ^@ NM_003221.3(TFAP2B):c.*2506C>T http://identifiers.org/clinvar/353054 ^@ NM_014244.4(ADAMTS2):c.*1941C>T http://identifiers.org/clinvar/360872 ^@ NM_194456.1(KRIT1):c.*378dupA http://identifiers.org/clinvar/360922 ^@ NM_000466.2(PEX1):c.2584-10delT http://identifiers.org/clinvar/353104 ^@ NM_014244.4(ADAMTS2):c.2439C>T (p.His813=) http://identifiers.org/clinvar/361022 ^@ NM_014251.2(SLC25A13):c.1088G>T (p.Gly363Val) http://identifiers.org/clinvar/353604 ^@ NM_002310.5(LIFR):c.*262A>G http://identifiers.org/clinvar/357733 ^@ NM_001142800.1(EYS):c.2027C>T (p.Thr676Met) http://identifiers.org/clinvar/353254 ^@ NM_014324.5(AMACR):c.712C>T (p.Pro238Ser) http://identifiers.org/clinvar/357783 ^@ NM_018368.3(LMBRD1):c.-57T>C http://identifiers.org/clinvar/353304 ^@ NM_004172.4(SLC1A3):c.-449C>T http://identifiers.org/clinvar/357883 ^@ NM_014989.5(RIMS1):c.*1446A>G http://identifiers.org/clinvar/357933 ^@ NM_004415.3(DSP):c.-157G>A http://identifiers.org/clinvar/357983 ^@ NM_004415.3(DSP):c.*681C>A http://identifiers.org/clinvar/353754 ^@ NM_002203.3(ITGA2):c.1602+15dupA http://identifiers.org/clinvar/353554 ^@ NM_002310.5(LIFR):c.*4243A>G http://identifiers.org/clinvar/306328 ^@ NM_012193.3(FZD4):c.*5250delT http://identifiers.org/clinvar/361072 ^@ NM_017890.4(VPS13B):c.7163A>G (p.Lys2388Arg) http://identifiers.org/clinvar/361122 ^@ NM_017890.4(VPS13B):c.*1540T>C http://identifiers.org/clinvar/300663 ^@ NM_004273.4(CHST3):c.*4095A>G http://identifiers.org/clinvar/300713 ^@ NM_016065.3(MRPS16):c.*280C>T http://identifiers.org/clinvar/300763 ^@ NM_002658.4(PLAU):c.*52T>A http://identifiers.org/clinvar/300813 ^@ NM_014000.2(VCL):c.*1403C>T http://identifiers.org/clinvar/307717 ^@ NM_000834.3(GRIN2B):c.*1074C>T http://identifiers.org/clinvar/307767 ^@ NM_000900.3(MGP):c.*140T>C http://identifiers.org/clinvar/301013 ^@ NM_007055.3(POLR3A):c.*1159C>T http://identifiers.org/clinvar/301063 ^@ NM_007055.3(POLR3A):c.1901A>G (p.Asn634Ser) http://identifiers.org/clinvar/308267 ^@ NM_000719.6(CACNA1C):c.*5970A>C http://identifiers.org/clinvar/301213 ^@ NM_033100.3(CDHR1):c.159C>T (p.His53=) http://identifiers.org/clinvar/308667 ^@ NM_198578.3(LRRK2):c.*971C>A http://identifiers.org/clinvar/301363 ^@ NM_004329.2(BMPR1A):c.*746A>G http://identifiers.org/clinvar/301413 ^@ NM_000314.6(PTEN):c.-355G>A http://identifiers.org/clinvar/308817 ^@ NM_001017535.1(VDR):c.*2658dupG http://identifiers.org/clinvar/309017 ^@ NM_003482.3(KMT2D):c.12945A>C (p.Gln4315His) http://identifiers.org/clinvar/301863 ^@ NM_001002261.3(ZFYVE27):c.*1379G>A http://identifiers.org/clinvar/366171 ^@ NM_144966.5(FREM1):c.516C>T (p.Thr172=) http://identifiers.org/clinvar/365820 ^@ NM_014564.4(LHX3):c.469+3C>T http://identifiers.org/clinvar/366221 ^@ NM_003070.4(SMARCA2):c.3685-6C>A http://identifiers.org/clinvar/302163 ^@ NM_001025389.1(AMPD3):c.981G>T (p.Lys327Asn) http://identifiers.org/clinvar/366321 ^@ NM_003070.4(SMARCA2):c.4679G>A (p.Arg1560Gln) http://identifiers.org/clinvar/302213 ^@ NM_000019.3(ACAT1):c.*123_*127dupAACTT http://identifiers.org/clinvar/309806 ^@ NM_002206.2(ITGA7):c.-184C>T http://identifiers.org/clinvar/302313 ^@ NM_002906.3(RDX):c.*1289_*1290delTA http://identifiers.org/clinvar/366021 ^@ NM_024757.4(EHMT1):c.2882G>A (p.Arg961Gln) http://identifiers.org/clinvar/302363 ^@ NM_002906.3(RDX):c.-290C>A http://identifiers.org/clinvar/366071 ^@ NM_144966.5(FREM1):c.*1700T>C http://identifiers.org/clinvar/366121 ^@ NM_144966.5(FREM1):c.4504G>A (p.Val1502Met) http://identifiers.org/clinvar/310406 ^@ NM_001131025.1(PEX5):c.-486C>G http://identifiers.org/clinvar/366621 ^@ NM_001497.3(B4GALT1):c.*1766C>T http://identifiers.org/clinvar/310456 ^@ NM_001131025.1(PEX5):c.*991_*992dupCC http://identifiers.org/clinvar/310506 ^@ NM_002469.2(MYF6):c.172G>A (p.Gly58Arg) http://identifiers.org/clinvar/310556 ^@ NM_020661.3(AICDA):c.*1173C>T http://identifiers.org/clinvar/366721 ^@ NM_007126.3(VCP):c.18-5T>C http://identifiers.org/clinvar/366821 ^@ NM_001128227.2(GNE):c.*1020_*1037dup18 http://identifiers.org/clinvar/366471 ^@ NM_000459.4(TEK):c.*556G>C http://identifiers.org/clinvar/366521 ^@ NM_001256054.2(C9orf72):c.1260-16_1260-14delTTT http://identifiers.org/clinvar/310961 ^@ NM_002312.3(LIG4):c.*306A>G http://identifiers.org/clinvar/312600 ^@ NM_005708.4(GPC6):c.*3716A>T http://identifiers.org/clinvar/312900 ^@ NM_000257.3(MYH7):c.3974C>T (p.Ala1325Val) http://identifiers.org/clinvar/312950 ^@ NM_001099274.1(TINF2):c.767G>A (p.Arg256Gln) http://identifiers.org/clinvar/313000 ^@ NM_004086.2(COCH):c.-66C>T http://identifiers.org/clinvar/314789 ^@ NM_018418.4(SPATA7):c.1425G>T (p.Leu475Phe) http://identifiers.org/clinvar/313050 ^@ NM_025152.2(NUBPL):c.*1119_*1120insA http://identifiers.org/clinvar/314889 ^@ NM_006329.3(FBLN5):c.-413C>T http://identifiers.org/clinvar/313450 ^@ NM_005982.3(SIX1):c.*766delT http://identifiers.org/clinvar/322974 ^@ NM_001004334.3(GPR179):c.5982C>T (p.Ala1994=) http://identifiers.org/clinvar/323024 ^@ NM_001004334.3(GPR179):c.1070T>C (p.Leu357Pro) http://identifiers.org/clinvar/323124 ^@ NM_000226.3(KRT9):c.1336C>T (p.Arg446Trp) http://identifiers.org/clinvar/323924 ^@ NM_018129.3(PNPO):c.*791G>A http://identifiers.org/clinvar/368639 ^@ NM_002637.3(PHKA1):c.*553C>T http://identifiers.org/clinvar/314639 ^@ NM_004863.3(SPTLC2):c.*1521G>A http://identifiers.org/clinvar/314839 ^@ NM_018319.3(TDP1):c.1705A>G (p.Thr569Ala) http://identifiers.org/clinvar/325072 ^@ NM_000747.2(CHRNB1):c.-19C>T http://identifiers.org/clinvar/325773 ^@ NM_000152.4(GAA):c.54C>T (p.Leu18=) http://identifiers.org/clinvar/325873 ^@ NM_001139.2(ALOX12B):c.1655-9G>A http://identifiers.org/clinvar/371794 ^@ NM_004168.3(SDHA):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/371944 ^@ NM_006231.3(POLE):c.6004+11A>G http://identifiers.org/clinvar/371894 ^@ NM_004360.4(CDH1):c.-124-164delT http://identifiers.org/clinvar/372094 ^@ NM_058216.2(RAD51C):c.837+14A>G http://identifiers.org/clinvar/372044 ^@ NM_000546.5(TP53):c.74+14T>C http://identifiers.org/clinvar/371994 ^@ NM_001256849.1(POLD1):c.1892+11C>T http://identifiers.org/clinvar/372155 ^@ NM_002444.2(MSN):c.1657C>T (p.Arg553Ter) http://identifiers.org/clinvar/372223 ^@ NM_176869.2(PPA2):c.280A>G (p.Met94Val) http://identifiers.org/clinvar/372277 ^@ NM_181783.3(TMTC3):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/372330 ^@ NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) http://identifiers.org/clinvar/372897 ^@ NM_005029.3(PITX3):c.646C>T (p.Gln216Ter) http://identifiers.org/clinvar/372380 ^@ NM_000545.6(HNF1A):c.526C>T (p.Gln176Ter) http://identifiers.org/clinvar/372847 ^@ NM_005002.4(NDUFA9):c.655+5G>A http://identifiers.org/clinvar/373889 ^@ NM_000059.3:c.(9257_9501)ins(400) http://identifiers.org/clinvar/373992 ^@ NM_014141.5(CNTNAP2):c.536A>G (p.Tyr179Cys) http://identifiers.org/clinvar/374042 ^@ NM_001844.4(COL2A1):c.3023G>T (p.Gly1008Val) http://identifiers.org/clinvar/374092 ^@ NM_004960.3(FUS):c.13+10_13+12delGGC http://identifiers.org/clinvar/373942 ^@ NM_001942.3(DSG1):c.604G>T (p.Glu202Ter) http://identifiers.org/clinvar/374142 ^@ NM_000540.2(RYR1):c.14713C>A (p.Pro4905Thr) http://identifiers.org/clinvar/374192 ^@ NM_002547.2(OPHN1):c.746T>C (p.Leu249Pro) http://identifiers.org/clinvar/374246 ^@ NM_001039590.2(USP9X):c.5339_5340delCC (p.Thr1780Serfs) http://identifiers.org/clinvar/374316 ^@ NM_000057.3(BLM):c.4140T>G (p.Ser1380Arg) http://identifiers.org/clinvar/374381 ^@ NM_138736.2(GNAO1):c.692A>G (p.Tyr231Cys) http://identifiers.org/clinvar/374434 ^@ NM_182978.3(GNAL):c.461_462delAG (p.Lys155Asnfs) http://identifiers.org/clinvar/374484 ^@ NM_015548.4(DST):c.10548G>T (p.Arg3516Ser) http://identifiers.org/clinvar/374534 ^@ NM_181661.2(VPS13B):c.78A>G (p.Leu26=) http://identifiers.org/clinvar/374584 ^@ NM_014244.4(ADAMTS2):c.3038A>C (p.Gln1013Pro) http://identifiers.org/clinvar/374634 ^@ NM_001844.4(COL2A1):c.2946C>T (p.Ile982=) http://identifiers.org/clinvar/374684 ^@ NM_015046.5(SETX):c.832G>A (p.Ala278Thr) http://identifiers.org/clinvar/374734 ^@ NM_000257.3(MYH7):c.346-1G>A http://identifiers.org/clinvar/374785 ^@ NM_004977.2(KCNC3):c.46G>A (p.Ala16Thr) http://identifiers.org/clinvar/374844 ^@ NM_021964.2(ZNF148):c.970dupT (p.Ser324Phefs) http://identifiers.org/clinvar/374894 ^@ NM_138773.3(SLC25A46):c.425C>T (p.Thr142Ile) http://identifiers.org/clinvar/374961 ^@ NM_001040113.1(MYH11):c.4055G>A (p.Arg1352Gln) http://identifiers.org/clinvar/375231 ^@ NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del http://identifiers.org/clinvar/375292 ^@ NM_003995.3(NPR2):c.1758_1758delC (p.Cys586Terfs) http://identifiers.org/clinvar/375347 ^@ NM_014317.4(PDSS1):c.661_662insT (p.Arg221Leufs) http://identifiers.org/clinvar/375398 ^@ NM_001199162.1(USP19):c.1536G>T (p.Glu512Asp) http://identifiers.org/clinvar/391768 ^@ NM_015120.4(ALMS1):c.8647C>T (p.Leu2883Phe) http://identifiers.org/clinvar/386790 ^@ NM_000179.2(MSH6):c.1200G>A (p.Glu400=) http://identifiers.org/clinvar/389079 ^@ NM_000179.2(MSH6):c.1509C>A (p.Ser503=) http://identifiers.org/clinvar/380103 ^@ NM_014362.3(HIBCH):c.517+15T>A http://identifiers.org/clinvar/388929 ^@ NM_000179.2(MSH6):c.1923A>G (p.Glu641=) http://identifiers.org/clinvar/392118 ^@ NM_001875.4(CPS1):c.2454A>G (p.Pro818=) http://identifiers.org/clinvar/391518 ^@ NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) http://identifiers.org/clinvar/382948 ^@ NM_000551.3(VHL):c.-47C>G http://identifiers.org/clinvar/389229 ^@ NM_001683.3(ATP2B2):c.885G>C (p.Glu295Asp) http://identifiers.org/clinvar/388329 ^@ NM_005051.2(QARS):c.837A>T (p.Gly279=) http://identifiers.org/clinvar/386490 ^@ NM_003280.2(TNNC1):c.102C>A (p.Gly34=) http://identifiers.org/clinvar/380956 ^@ NM_006514.3(SCN10A):c.1525T>C (p.Ser509Pro) http://identifiers.org/clinvar/387290 ^@ NM_152393.3(KLHL40):c.1371G>A (p.Val457=) http://identifiers.org/clinvar/383098 ^@ NM_005051.2(QARS):c.1615-17C>G http://identifiers.org/clinvar/384200 ^@ NM_015697.7(COQ2):c.404-12A>G http://identifiers.org/clinvar/382648 ^@ NM_001148.4(ANK2):c.1095C>T (p.Tyr365=) http://identifiers.org/clinvar/383148 ^@ NM_001148.4(ANK2):c.10807A>G (p.Ile3603Val) http://identifiers.org/clinvar/381056 ^@ NM_001182.4(ALDH7A1):c.133C>T (p.Leu45=) http://identifiers.org/clinvar/384300 ^@ NM_024582.4(FAT4):c.11814A>G (p.Ser3938=) http://identifiers.org/clinvar/383750 ^@ NM_058172.5(ANTXR2):c.1144G>T (p.Gly382Cys) http://identifiers.org/clinvar/386240 ^@ NM_000806.5(GABRA1):c.477-6C>T http://identifiers.org/clinvar/380303 ^@ NM_005506.3(SCARB2):c.-18C>T http://identifiers.org/clinvar/389179 ^@ NM_022132.4(MCCC2):c.330C>T (p.Asp110=) http://identifiers.org/clinvar/380805 ^@ NM_021911.2(GABRB2):c.1308C>T (p.Ala436=) http://identifiers.org/clinvar/388279 ^@ NM_001167734.1(VARS2):c.2586G>C (p.Ser862=) http://identifiers.org/clinvar/389129 ^@ NM_005051.2(QARS):c.243C>T (p.Ile81=) http://identifiers.org/clinvar/380454 ^@ NM_012160.4(FBXL4):c.468T>C (p.Ala156=) http://identifiers.org/clinvar/388179 ^@ NM_005045.3(RELN):c.8119+17G>A http://identifiers.org/clinvar/384450 ^@ NM_002667.4(PLN):c.-98+17G>A http://identifiers.org/clinvar/380153 ^@ NM_001167734.1(VARS2):c.1378C>T (p.Leu460=) http://identifiers.org/clinvar/382096 ^@ NM_001069.2(TUBB2A):c.1172G>A (p.Arg391His) http://identifiers.org/clinvar/383399 ^@ NM_005431.1(XRCC2):c.-15C>G http://identifiers.org/clinvar/391168 ^@ NM_004519.3(KCNQ3):c.2556T>G (p.Pro852=) http://identifiers.org/clinvar/384050 ^@ NM_016203.3(PRKAG2):c.1584+19T>C http://identifiers.org/clinvar/380855 ^@ NM_000038.5(APC):c.7833A>G (p.Thr2611=) http://identifiers.org/clinvar/391818 ^@ NM_000193.3(SHH):c.1060A>G (p.Ile354Val) http://identifiers.org/clinvar/389379 ^@ NM_006348.3(COG5):c.-8C>T http://identifiers.org/clinvar/383950 ^@ NM_014141.5(CNTNAP2):c.2043C>T (p.Tyr681=) http://identifiers.org/clinvar/381406 ^@ NM_014324.5(AMACR):c.247+20G>A http://identifiers.org/clinvar/380654 ^@ NM_001130438.2(SPTAN1):c.4540G>A (p.Ala1514Thr) http://identifiers.org/clinvar/384000 ^@ NM_000368.4(TSC1):c.2625+15G>A http://identifiers.org/clinvar/386990 ^@ NM_000445.4(PLEC):c.9733C>T (p.Arg3245Trp) http://identifiers.org/clinvar/387240 ^@ NM_005670.3(EPM2A):c.870G>A (p.Arg290=) http://identifiers.org/clinvar/388829 ^@ NM_006766.4(KAT6A):c.5878A>C (p.Ser1960Arg) http://identifiers.org/clinvar/383449 ^@ NM_004408.3(DNM1):c.2238C>T (p.Asn746=) http://identifiers.org/clinvar/382146 ^@ NM_007327.3(GRIN1):c.1513C>T (p.Leu505=) http://identifiers.org/clinvar/378661 ^@ NM_001130438.2(SPTAN1):c.4906-15C>T http://identifiers.org/clinvar/392068 ^@ NM_080680.2(COL11A2):c.324T>C (p.Gly108=) http://identifiers.org/clinvar/388379 ^@ NM_006415.3(SPTLC1):c.888T>C (p.Asn296=) http://identifiers.org/clinvar/391968 ^@ NM_000368.4(TSC1):c.*14A>T http://identifiers.org/clinvar/387390 ^@ NM_004415.3(DSP):c.5414G>A (p.Cys1805Tyr) http://identifiers.org/clinvar/381306 ^@ NM_033163.3(FGF8):c.32+11C>T http://identifiers.org/clinvar/386290 ^@ NM_004092.3(ECHS1):c.240G>A (p.Pro80=) http://identifiers.org/clinvar/133311 ^@ NM_206933.2(USH2A):c.1724G>T (p.Cys575Phe) http://identifiers.org/clinvar/133374 ^@ NM_001347827.1(PDGFRA):c.2345C>T (p.Thr782Met) http://identifiers.org/clinvar/133424 ^@ NM_000548.4(TSC2):c.336+10A>G http://identifiers.org/clinvar/133474 ^@ NM_004304.4(ALK):c.4472A>G (p.Lys1491Arg) http://identifiers.org/clinvar/133525 ^@ NM_000038.5(APC):c.3007G>A (p.Asp1003Asn) http://identifiers.org/clinvar/133575 ^@ NM_015338.5(ASXL1):c.999G>T (p.Met333Ile) http://identifiers.org/clinvar/133625 ^@ NM_000051.3(ATM):c.275A>C (p.Lys92Thr) http://identifiers.org/clinvar/133675 ^@ NM_001706.4(BCL6):c.1375C>T (p.Arg459Cys) http://identifiers.org/clinvar/133725 ^@ NM_007294.3(BRCA1):c.787G>A (p.Gly263Ser) http://identifiers.org/clinvar/133779 ^@ NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu) http://identifiers.org/clinvar/133829 ^@ NM_001321786.1(CBLB):c.827G>A (p.Arg276Gln) http://identifiers.org/clinvar/133879 ^@ NM_000077.4(CDKN2A):c.16G>A (p.Gly6Arg) http://identifiers.org/clinvar/133929 ^@ NM_004380.2(CREBBP):c.346A>G (p.Ser116Gly) http://identifiers.org/clinvar/133979 ^@ NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) http://identifiers.org/clinvar/134029 ^@ NM_005228.4(EGFR):c.2963A>C (p.His988Pro) http://identifiers.org/clinvar/134081 ^@ NM_001005862.2(ERBB2):c.3338C>T (p.Pro1113Leu) http://identifiers.org/clinvar/134131 ^@ NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) http://identifiers.org/clinvar/134181 ^@ NM_000123.3(ERCC5):c.641G>A (p.Arg214His) http://identifiers.org/clinvar/134231 ^@ NM_017709.3(FAM46C):c.89C>G (p.Thr30Ser) http://identifiers.org/clinvar/134282 ^@ NM_000135.2(FANCA):c.4249C>G (p.His1417Asp) http://identifiers.org/clinvar/134332 ^@ NM_021922.2(FANCE):c.94G>A (p.Ala32Thr) http://identifiers.org/clinvar/134383 ^@ NM_033632.3(FBXW7):c.58A>G (p.Arg20Gly) http://identifiers.org/clinvar/134433 ^@ NM_004119.2(FLT3):c.1249A>C (p.Ile417Leu) http://identifiers.org/clinvar/134483 ^@ NM_001077490.2(GNAS):c.940C>T (p.Arg314Trp) http://identifiers.org/clinvar/134533 ^@ NM_002185.3(IL7R):c.1066A>G (p.Ile356Val) http://identifiers.org/clinvar/134583 ^@ NM_000215.3(JAK3):c.851G>A (p.Gly284Glu) http://identifiers.org/clinvar/134633 ^@ NM_001300.5(KLF6):c.428C>T (p.Ser143Phe) http://identifiers.org/clinvar/134685 ^@ NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) http://identifiers.org/clinvar/135859 ^@ NM_000251.2(MSH2):c.2615A>G (p.Lys872Arg) http://identifiers.org/clinvar/136324 ^@ NM_004208.3(AIFM1):c.1416T>C (p.Ala472=) http://identifiers.org/clinvar/136375 ^@ NM_001182.4(ALDH7A1):c.1263G>A (p.Ala421=) http://identifiers.org/clinvar/185964 ^@ NM_002878.3(RAD51D):c.792C>T (p.Leu264=) http://identifiers.org/clinvar/187466 ^@ NM_007294.3(BRCA1):c.5027T>G (p.Leu1676Ter) http://identifiers.org/clinvar/187166 ^@ NM_007294.3(BRCA1):c.2536G>A (p.Glu846Lys) http://identifiers.org/clinvar/183924 ^@ NM_007294.3(BRCA1):c.1275T>A (p.Ser425=) http://identifiers.org/clinvar/184875 ^@ NM_007294.3(BRCA1):c.20G>A (p.Arg7His) http://identifiers.org/clinvar/187716 ^@ NM_058216.2(RAD51C):c.181_182delCT (p.Leu61Alafs) http://identifiers.org/clinvar/186364 ^@ NM_058216.2(RAD51C):c.709C>T (p.Arg237Ter) http://identifiers.org/clinvar/187416 ^@ NM_032043.2(BRIP1):c.2992_2995delAAGA (p.Lys998Glufs) http://identifiers.org/clinvar/185025 ^@ NM_032043.2(BRIP1):c.1962C>T (p.Gly654=) http://identifiers.org/clinvar/184625 ^@ NM_000546.5(TP53):c.222C>T (p.Ala74=) http://identifiers.org/clinvar/184225 ^@ NM_000455.4(STK11):c.564C>T (p.Gly188=) http://identifiers.org/clinvar/184025 ^@ NM_000455.4(STK11):c.609G>A (p.Pro203=) http://identifiers.org/clinvar/184125 ^@ NM_007194.3(CHEK2):c.1566C>T (p.Pro522=) http://identifiers.org/clinvar/183874 ^@ NM_007194.3(CHEK2):c.1063C>T (p.Leu355=) http://identifiers.org/clinvar/188458 ^@ NM_004415.3(DSP):c.1292dupA (p.Tyr431Terfs) http://identifiers.org/clinvar/226853 ^@ NM_016616.4(NME8):c.1007G>A (p.Arg336His) http://identifiers.org/clinvar/227735 ^@ NM_006393.2(NEBL):c.2748G>T (p.Pro916=) http://identifiers.org/clinvar/227003 ^@ NM_001142771.1(PCDH15):c.4686G>A (p.Thr1562=) http://identifiers.org/clinvar/227835 ^@ NM_001142771.1(PCDH15):c.4584G>A (p.Gln1528=) http://identifiers.org/clinvar/227785 ^@ NM_001277269.1(OTOG):c.5339A>G (p.Glu1780Gly) http://identifiers.org/clinvar/226903 ^@ NM_001277269.1(OTOG):c.6329-7C>T http://identifiers.org/clinvar/227685 ^@ NM_000260.3(MYO7A):c.4254C>T (p.Pro1418=) http://identifiers.org/clinvar/226953 ^@ NM_173591.3(OTOGL):c.5200T>A (p.Leu1734Ile) http://identifiers.org/clinvar/227585 ^@ NM_002471.3(MYH6):c.2805C>T (p.Asn935=) http://identifiers.org/clinvar/227154 ^@ NM_001089.2(ABCA3):c.5101G>A (p.Glu1701Lys) http://identifiers.org/clinvar/227455 ^@ NM_001130089.1(KARS):c.792G>C (p.Leu264=) http://identifiers.org/clinvar/227635 ^@ NM_016239.3(MYO15A):c.1762C>A (p.Arg588=) http://identifiers.org/clinvar/227986 ^@ NM_003673.3(TCAP):c.346C>T (p.Leu116=) http://identifiers.org/clinvar/226803 ^@ NM_003803.3(MYOM1):c.1799A>T (p.Glu600Val) http://identifiers.org/clinvar/227255 ^@ NM_006012.2(CLPP):c.555+15C>T http://identifiers.org/clinvar/228036 ^@ NM_001039141.2(TRIOBP):c.5393C>T (p.Ser1798Leu) http://identifiers.org/clinvar/227305 ^@ NM_004006.2(DMD):c.145C>T (p.Arg49Cys) http://identifiers.org/clinvar/234743 ^@ NM_000179.2(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785Glnfs) http://identifiers.org/clinvar/234373 ^@ NM_000179.2(MSH6):c.2561_2562delAG (p.Lys854Asnfs) http://identifiers.org/clinvar/234492 ^@ NM_000179.2(MSH6):c.3278G>T (p.Gly1093Val) http://identifiers.org/clinvar/234793 ^@ NM_000535.6(PMS2):c.2491A>G (p.Ile831Val) http://identifiers.org/clinvar/234593 ^@ NM_000535.6(PMS2):c.107G>A (p.Ser36Asn) http://identifiers.org/clinvar/234894 ^@ NM_000314.6(PTEN):c.-1234C>T http://identifiers.org/clinvar/234263 ^@ NM_000051.3(ATM):c.2377-6T>A http://identifiers.org/clinvar/234693 ^@ NM_000834.3(GRIN2B):c.3413G>T (p.Arg1138Leu) http://identifiers.org/clinvar/234441 ^@ NM_000834.3(GRIN2B):c.2557_2558delGT (p.Val853Leufs) http://identifiers.org/clinvar/234643 ^@ NM_000257.3(MYH7):c.572T>A (p.Val191Asp) http://identifiers.org/clinvar/234543 ^@ NM_000214.2(JAG1):c.269_270delGG (p.Gly90Alafs) http://identifiers.org/clinvar/234320 ^@ NM_000214.2(JAG1):c.703C>T (p.Arg235Ter) http://identifiers.org/clinvar/234844 ^@ NM_000166.5(GJB1):c.542T>A (p.Val181Glu) http://identifiers.org/clinvar/230077 ^@ NM_001128425.1(MUTYH):c.1195G>T (p.Ala399Ser) http://identifiers.org/clinvar/233167 ^@ NM_000465.3(BARD1):c.1903+1G>T http://identifiers.org/clinvar/229677 ^@ NM_000465.3(BARD1):c.1216C>T (p.Arg406Ter) http://identifiers.org/clinvar/232466 ^@ NM_000465.3(BARD1):c.896C>G (p.Thr299Ser) http://identifiers.org/clinvar/230527 ^@ NM_000251.2(MSH2):c.-68-10T>A http://identifiers.org/clinvar/229827 ^@ NM_000251.2(MSH2):c.1390G>T (p.Glu464Ter) http://identifiers.org/clinvar/232016 ^@ NM_000179.2(MSH6):c.627+3G>A http://identifiers.org/clinvar/232266 ^@ NM_000179.2(MSH6):c.3921T>C (p.Asn1307=) http://identifiers.org/clinvar/229777 ^@ NM_000179.2(MSH6):c.3974A>G (p.Lys1325Arg) http://identifiers.org/clinvar/232066 ^@ NM_000249.3(MLH1):c.-285G>T http://identifiers.org/clinvar/230027 ^@ NM_000249.3(MLH1):c.691delA (p.Ile231Leufs) http://identifiers.org/clinvar/230127 ^@ NM_000038.5(APC):c.1705G>A (p.Val569Met) http://identifiers.org/clinvar/263500 ^@ NM_024422.4(DSC2):c.236T>G (p.Val79Gly) http://identifiers.org/clinvar/263702 ^@ NM_024422.4(DSC2):c.321G>T (p.Lys107Asn) http://identifiers.org/clinvar/264252 ^@ NM_001456.3(FLNA):c.5116G>A (p.Ala1706Thr) http://identifiers.org/clinvar/264723 ^@ NM_001242896.1(DEPDC5):c.727C>T (p.Arg243Ter) http://identifiers.org/clinvar/264878 ^@ NM_000059.3(BRCA2):c.-59_-57delGAA http://identifiers.org/clinvar/264978 ^@ NM_000059.3(BRCA2):c.6842-1496del http://identifiers.org/clinvar/264928 ^@ NM_000059.3(BRCA2):c.9257-2082del http://identifiers.org/clinvar/264778 ^@ NM_007294.3(BRCA1):c.441+1734G>A http://identifiers.org/clinvar/264828 ^@ NM_007294.3(BRCA1):c.134+224del http://identifiers.org/clinvar/265083 ^@ NM_201253.2(CRB1):c.584G>T (p.Cys195Phe) http://identifiers.org/clinvar/265288 ^@ NM_206933.2(USH2A):c.3187_3188delCA (p.Gln1063Serfs) http://identifiers.org/clinvar/265438 ^@ NM_000147.4(FUCA1):c.393T>A (p.Tyr131Ter) http://identifiers.org/clinvar/265589 ^@ NM_021007.2(SCN2A):c.4308+1G>A http://identifiers.org/clinvar/265488 ^@ NM_003494.3(DYSF):c.1639-6T>A http://identifiers.org/clinvar/265184 ^@ NM_013334.3(GMPPB):c.260-1G>A http://identifiers.org/clinvar/265388 ^@ NM_000089.3(COL1A2):c.1360G>T (p.Gly454Cys) http://identifiers.org/clinvar/265639 ^@ NM_000089.3(COL1A2):c.2567G>A (p.Gly856Glu) http://identifiers.org/clinvar/265133 ^@ NM_207122.1(EXT2):c.544C>T (p.Arg182Ter) http://identifiers.org/clinvar/265237 ^@ NM_130799.2(MEN1):c.772C>T (p.Gln258Ter) http://identifiers.org/clinvar/265689 ^@ NM_013275.5(ANKRD11):c.2175_2178delCAAA (p.Asn725Lysfs) http://identifiers.org/clinvar/265030 ^@ NM_000382.2(ALDH3A2):c.386-2A>T http://identifiers.org/clinvar/265338 ^@ NM_172107.3(KCNQ2):c.624delG (p.Met208Ilefs) http://identifiers.org/clinvar/265538 ^@ NM_007194.3(CHEK2):c.606delT (p.Phe202Leufs) http://identifiers.org/clinvar/265775 ^@ NM_138927.2(SON):c.6002_6003insCC (p.Arg2002Glnfs) http://identifiers.org/clinvar/265928 ^@ NM_174936.3(PCSK9):c.657+114del http://identifiers.org/clinvar/265878 ^@ NM_000384.2(APOB):c.1280G>A (p.Arg427Gln) http://identifiers.org/clinvar/265983 ^@ NM_000338.2(SLC12A1):c.843G>C (p.Glu281Asp) http://identifiers.org/clinvar/266034 ^@ NM_021032.4(FGF12):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/267280 ^@ NM_021971.2(GMPPB):c.951+1G>A http://identifiers.org/clinvar/266110 ^@ NM_001849.3(COL6A2):c.2040dupT (p.Ile681Tyrfs) http://identifiers.org/clinvar/266999 ^@ NM_000059.3(BRCA2):c.729_730insC (p.Asp244Argfs) http://identifiers.org/clinvar/267149 ^@ NM_000059.3(BRCA2):c.927delA (p.Leu310Tyrfs) http://identifiers.org/clinvar/266699 ^@ NM_000059.3(BRCA2):c.2451_2452dupGA (p.Asn818Argfs) http://identifiers.org/clinvar/266749 ^@ NM_000059.3(BRCA2):c.3390delT (p.Phe1130Leufs) http://identifiers.org/clinvar/266799 ^@ NM_000059.3(BRCA2):c.4285_4286insT (p.Gln1429Leufs) http://identifiers.org/clinvar/266849 ^@ NM_000059.3(BRCA2):c.5119_5122delACTG (p.Thr1707Glnfs) http://identifiers.org/clinvar/266899 ^@ NM_000059.3(BRCA2):c.5835dupA (p.Ser1946Ilefs) http://identifiers.org/clinvar/266949 ^@ NM_000059.3(BRCA2):c.6447delT (p.Val2151Phefs) http://identifiers.org/clinvar/267049 ^@ NM_000059.3(BRCA2):c.8008_8030del23 (p.Ser2670Lysfs) http://identifiers.org/clinvar/267099 ^@ NM_000059.3(BRCA2):c.8572delC (p.Gln2858Asnfs) http://identifiers.org/clinvar/267218 ^@ NM_007294.3(BRCA1):c.4820T>C (p.Val1607Ala) http://identifiers.org/clinvar/267351 ^@ NM_001733.4(C1R):c.1073G>T (p.Cys358Phe) http://identifiers.org/clinvar/267420 ^@ NM_017780.3(CHD7):c.2504_2508delATCTT (p.Tyr835Serfs) http://identifiers.org/clinvar/267656 ^@ NM_000059.3(BRCA2):c.67+1del http://identifiers.org/clinvar/267556 ^@ NM_007294.3(BRCA1):c.4676-?_4986+?del http://identifiers.org/clinvar/267506 ^@ NM_007294.3(BRCA1):c.135-?_670+?del http://identifiers.org/clinvar/267606 ^@ NM_007294.3(BRCA1):c.5468-2A>T http://identifiers.org/clinvar/291757 ^@ NM_007375.3(TARDBP):c.*1795A>G http://identifiers.org/clinvar/291707 ^@ NM_013296.4(GPSM2):c.1473delG (p.Phe492Serfs) http://identifiers.org/clinvar/291657 ^@ NM_015074.3(KIF1B):c.*4113C>T http://identifiers.org/clinvar/291907 ^@ NM_013319.2(UBIAD1):c.*1810delA http://identifiers.org/clinvar/291607 ^@ NM_015074.3(KIF1B):c.*1134G>A http://identifiers.org/clinvar/291807 ^@ NM_006610.3(MASP2):c.377C>T (p.Pro126Leu) http://identifiers.org/clinvar/291857 ^@ NM_013319.2(UBIAD1):c.751C>A (p.Leu251Ile) http://identifiers.org/clinvar/292057 ^@ NM_138959.2(VANGL1):c.*2581G>A http://identifiers.org/clinvar/292107 ^@ NM_138959.2(VANGL1):c.*6321T>G http://identifiers.org/clinvar/292207 ^@ NM_005957.4(MTHFR):c.*1389G>A http://identifiers.org/clinvar/291957 ^@ NM_002524.4(NRAS):c.*2510_*2515delTAGTTA http://identifiers.org/clinvar/292257 ^@ NM_000198.3(HSD3B2):c.308-8G>A http://identifiers.org/clinvar/292007 ^@ NM_138959.2(VANGL1):c.575T>C (p.Leu192Pro) http://identifiers.org/clinvar/292157 ^@ NM_005957.4(MTHFR):c.*4489T>C http://identifiers.org/clinvar/292307 ^@ NM_006623.3(PHGDH):c.318C>T (p.Ala106=) http://identifiers.org/clinvar/293896 ^@ NM_002065.6(GLUL):c.*2021G>T http://identifiers.org/clinvar/293796 ^@ NM_022089.3(ATP13A2):c.1203C>T (p.Cys401=) http://identifiers.org/clinvar/294046 ^@ NM_005562.2(LAMC2):c.*1097C>T http://identifiers.org/clinvar/294096 ^@ NM_031935.2(HMCN1):c.498+15A>C http://identifiers.org/clinvar/294146 ^@ NM_031935.2(HMCN1):c.4440T>C (p.Thr1480=) http://identifiers.org/clinvar/294196 ^@ NM_031935.2(HMCN1):c.8241A>G (p.Ala2747=) http://identifiers.org/clinvar/294246 ^@ NM_031935.2(HMCN1):c.12230-7A>C http://identifiers.org/clinvar/294296 ^@ NM_031935.2(HMCN1):c.15551C>G (p.Thr5184Ser) http://identifiers.org/clinvar/294446 ^@ NM_024529.4(CDC73):c.*2131A>T http://identifiers.org/clinvar/294596 ^@ NM_018136.4(ASPM):c.10095C>T (p.Gly3365=) http://identifiers.org/clinvar/294796 ^@ NM_001005337.2(PKP1):c.-116C>G http://identifiers.org/clinvar/293746 ^@ NM_000639.2(FASLG):c.*406G>T http://identifiers.org/clinvar/293846 ^@ NM_014625.3(NPHS2):c.874-11_874-10delAT http://identifiers.org/clinvar/294996 ^@ NM_002389.4(CD46):c.*1963C>T http://identifiers.org/clinvar/343388 ^@ NM_153240.4(NPHP3):c.1565C>T (p.Pro522Leu) http://identifiers.org/clinvar/344477 ^@ NM_015560.2(OPA1):c.-102G>A http://identifiers.org/clinvar/345127 ^@ NM_198056.2(SCN5A):c.1800G>A (p.Val600=) http://identifiers.org/clinvar/345277 ^@ NM_016006.4(ABHD5):c.*3680A>C http://identifiers.org/clinvar/336998 ^@ NM_003124.4(SPR):c.*597C>A http://identifiers.org/clinvar/344527 ^@ NM_000996.2(RPL35A):c.-31C>T http://identifiers.org/clinvar/344577 ^@ NM_000461.4(THRB):c.*3324dupA http://identifiers.org/clinvar/336948 ^@ NM_003494.3(DYSF):c.1180+13C>T http://identifiers.org/clinvar/345677 ^@ NM_015175.2(NBEAL2):c.5881+11G>A http://identifiers.org/clinvar/337098 ^@ NM_004082.4(DCTN1):c.59C>T (p.Ala20Val) http://identifiers.org/clinvar/345777 ^@ NM_033629.4(TREX1):c.418A>G (p.Met140Val) http://identifiers.org/clinvar/344927 ^@ NM_001106.3(ACVR2B):c.*338C>G http://identifiers.org/clinvar/337248 ^@ NM_000821.6(GGCX):c.*309A>G http://identifiers.org/clinvar/337348 ^@ NM_022912.2(REEP1):c.*2794A>C http://identifiers.org/clinvar/346177 ^@ NM_052859.3(RFT1):c.*334A>G http://identifiers.org/clinvar/337548 ^@ NM_014014.4(SNRNP200):c.3550T>C (p.Leu1184=) http://identifiers.org/clinvar/345377 ^@ NM_020208.3(SLC6A20):c.*1192T>C http://identifiers.org/clinvar/337598 ^@ NM_020184.3(CNNM4):c.*364A>G http://identifiers.org/clinvar/342388 ^@ NM_033084.4(FANCD2):c.*399G>A http://identifiers.org/clinvar/345727 ^@ NM_002222.5(ITPR1):c.3389A>G (p.Asp1130Gly) http://identifiers.org/clinvar/345577 ^@ NM_000316.2(PTH1R):c.128G>A (p.Arg43His) http://identifiers.org/clinvar/345627 ^@ NM_015175.2(NBEAL2):c.1532G>C (p.Arg511Pro) http://identifiers.org/clinvar/342538 ^@ NM_198196.2(CD96):c.1264G>T (p.Val422Leu) http://identifiers.org/clinvar/342438 ^@ NM_000551.3(VHL):c.*1481G>A http://identifiers.org/clinvar/342688 ^@ NM_020754.3(ARHGAP31):c.*985_*986insC http://identifiers.org/clinvar/347266 ^@ NM_001963.5(EGF):c.*184A>C http://identifiers.org/clinvar/342788 ^@ NM_001023570.3(IQCB1):c.-185C>G http://identifiers.org/clinvar/346077 ^@ NM_153281.1(HYAL1):c.*492C>T http://identifiers.org/clinvar/346227 ^@ NM_003392.4(WNT5A):c.*2811C>T http://identifiers.org/clinvar/343088 ^@ NM_025265.3(TSEN2):c.*448C>G http://identifiers.org/clinvar/343288 ^@ NM_000539.3(RHO):c.*205C>T http://identifiers.org/clinvar/347866 ^@ NM_004744.4(LRAT):c.*1585T>G http://identifiers.org/clinvar/343188 ^@ NM_014049.4(ACAD9):c.-57_-56dupGT http://identifiers.org/clinvar/343438 ^@ NM_001063.3(TF):c.686T>C (p.Ile229Thr) http://identifiers.org/clinvar/343488 ^@ NM_020191.2(MRPS22):c.652A>G (p.Met218Val) http://identifiers.org/clinvar/343538 ^@ NM_024334.2(TMEM43):c.*1535T>C http://identifiers.org/clinvar/343338 ^@ NM_014382.3(ATP2C1):c.*498_*502delTGTAA http://identifiers.org/clinvar/343638 ^@ NM_000935.2(PLOD2):c.*683C>T http://identifiers.org/clinvar/343588 ^@ NM_004628.4(XPC):c.-4C>T http://identifiers.org/clinvar/358283 ^@ NM_003227.3(TFR2):c.2367G>A (p.Ala789=) http://identifiers.org/clinvar/358433 ^@ NM_005045.3(RELN):c.-100_-98delTCT http://identifiers.org/clinvar/358483 ^@ NM_006348.3(COG5):c.-169G>T http://identifiers.org/clinvar/362521 ^@ NM_005144.4(HR):c.1305T>C (p.Phe435=) http://identifiers.org/clinvar/362621 ^@ NM_006158.4(NEFL):c.*1344G>A http://identifiers.org/clinvar/362821 ^@ NM_000553.4(WRN):c.*553dupA http://identifiers.org/clinvar/359033 ^@ NM_020632.2(ATP6V0A4):c.-25C>G http://identifiers.org/clinvar/362871 ^@ NM_023110.2(FGFR1):c.*1211G>T http://identifiers.org/clinvar/363071 ^@ NM_006749.4(SLC20A2):c.1572C>T (p.Gly524=) http://identifiers.org/clinvar/363121 ^@ NM_018105.2(THAP1):c.*141A>G http://identifiers.org/clinvar/355244 ^@ NM_000426.3(LAMA2):c.818G>A (p.Arg273Lys) http://identifiers.org/clinvar/355344 ^@ NM_006208.2(ENPP1):c.1798T>C (p.Tyr600His) http://identifiers.org/clinvar/359922 ^@ NM_018947.5(CYCS):c.*1718T>C http://identifiers.org/clinvar/355594 ^@ NM_003630.2(PEX3):c.*1335A>G http://identifiers.org/clinvar/360122 ^@ NM_133468.4(BMPER):c.*123_*128delGTGTAT http://identifiers.org/clinvar/355794 ^@ NM_033071.3(SYNE1):c.*667delA http://identifiers.org/clinvar/355844 ^@ NM_033071.3(SYNE1):c.18786G>C (p.Leu6262Phe) http://identifiers.org/clinvar/355644 ^@ NM_003764.3(STX11):c.*3104dupT http://identifiers.org/clinvar/355694 ^@ NM_203395.2(IYD):c.*531G>T http://identifiers.org/clinvar/360472 ^@ NM_005228.4(EGFR):c.*35C>T http://identifiers.org/clinvar/355994 ^@ NM_004562.2(PRKN):c.*1601G>A http://identifiers.org/clinvar/356044 ^@ NM_003730.4(RNASET2):c.-104G>T http://identifiers.org/clinvar/360722 ^@ NM_000941.2(POR):c.1948G>A (p.Val650Met) http://identifiers.org/clinvar/360772 ^@ NM_001001547.2(CD36):c.*202G>T http://identifiers.org/clinvar/356394 ^@ NM_080680.2(COL11A2):c.3267G>A (p.Val1089=) http://identifiers.org/clinvar/356244 ^@ NM_000063.5(C2):c.313G>A (p.Gly105Arg) http://identifiers.org/clinvar/360972 ^@ NM_000089.3(COL1A2):c.3754A>G (p.Thr1252Ala) http://identifiers.org/clinvar/356494 ^@ NM_182548.3(LHFPL5):c.*170A>G http://identifiers.org/clinvar/356544 ^@ NM_182548.3(LHFPL5):c.*522_*527dupTCTCTC http://identifiers.org/clinvar/365921 ^@ NM_006412.3(AGPAT2):c.662-5C>G http://identifiers.org/clinvar/365971 ^@ NM_016219.4(MAN1B1):c.1881C>T (p.Phe627=) http://identifiers.org/clinvar/366671 ^@ NM_001497.3(B4GALT1):c.-132C>G http://identifiers.org/clinvar/366971 ^@ NM_203447.3(DOCK8):c.3234+15delC http://identifiers.org/clinvar/367021 ^@ NM_001042413.1(GLIS3):c.-681C>T http://identifiers.org/clinvar/298774 ^@ NM_005445.3(SMC3):c.2535+28dupT http://identifiers.org/clinvar/298824 ^@ NM_001134363.2(RBM20):c.*999A>G http://identifiers.org/clinvar/312700 ^@ NM_022489.3(INF2):c.2053A>G (p.Ile685Val) http://identifiers.org/clinvar/298524 ^@ NM_022039.3(FBXW4):c.*311_*314dupTATT http://identifiers.org/clinvar/299074 ^@ NM_001609.3(ACADSB):c.544G>T (p.Gly182Cys) http://identifiers.org/clinvar/313150 ^@ NM_006194.3(PAX9):c.-719C>T http://identifiers.org/clinvar/313200 ^@ NM_020937.3(FANCM):c.1741C>T (p.Arg581Cys) http://identifiers.org/clinvar/313300 ^@ NM_015915.4(ATL1):c.705C>T (p.Phe235=) http://identifiers.org/clinvar/298924 ^@ NM_004132.4(HABP2):c.*236A>C http://identifiers.org/clinvar/313550 ^@ NM_182914.2(SYNE2):c.10164G>A (p.Ser3388=) http://identifiers.org/clinvar/299024 ^@ NM_000141.4(FGFR2):c.-458C>A http://identifiers.org/clinvar/299474 ^@ NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) http://identifiers.org/clinvar/313800 ^@ NM_002382.4(MAX):c.*603C>G http://identifiers.org/clinvar/299124 ^@ NM_001609.3(ACADSB):c.*2060G>A http://identifiers.org/clinvar/299624 ^@ NM_178161.2(PTF1A):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/299174 ^@ NM_000274.3(OAT):c.110C>T (p.Pro37Leu) http://identifiers.org/clinvar/299674 ^@ NM_017433.4(MYO3A):c.3862A>G (p.Thr1288Ala) http://identifiers.org/clinvar/305464 ^@ NM_024649.4(BBS1):c.981C>T (p.Pro327=) http://identifiers.org/clinvar/299524 ^@ NM_001081.3(CUBN):c.1604A>G (p.Tyr535Cys) http://identifiers.org/clinvar/299724 ^@ NM_014915.2(ANKRD26):c.*68_*69delAT http://identifiers.org/clinvar/299774 ^@ NM_032844.4(MASTL):c.-481C>T http://identifiers.org/clinvar/306227 ^@ NM_024079.4(ALG8):c.32G>C (p.Gly11Ala) http://identifiers.org/clinvar/311111 ^@ NM_001846.3(COL4A2):c.783C>A (p.Ile261=) http://identifiers.org/clinvar/329322 ^@ NM_003573.2(LTBP4):c.2999C>G (p.Pro1000Arg) http://identifiers.org/clinvar/329372 ^@ NM_000709.3(BCKDHA):c.*125C>T http://identifiers.org/clinvar/317839 ^@ NM_005236.2(ERCC4):c.*875A>G http://identifiers.org/clinvar/310056 ^@ NM_000552.4(VWF):c.5785A>T (p.Asn1929Tyr) http://identifiers.org/clinvar/318441 ^@ NM_000336.2(SCNN1B):c.1545C>T (p.Ile515=) http://identifiers.org/clinvar/310356 ^@ NM_000365.5(TPI1):c.-29C>T http://identifiers.org/clinvar/318641 ^@ NM_020705.2(TBC1D24):c.*1238G>C http://identifiers.org/clinvar/318841 ^@ NM_000034.3(ALDOA):c.*72T>G http://identifiers.org/clinvar/319041 ^@ NM_004960.3(FUS):c.*2443A>G http://identifiers.org/clinvar/310711 ^@ NM_002108.3(HAL):c.1106G>A (p.Arg369Gln) http://identifiers.org/clinvar/319291 ^@ NM_018206.5(VPS35):c.1488T>C (p.His496=) http://identifiers.org/clinvar/311011 ^@ NM_001845.5(COL4A1):c.*587C>A http://identifiers.org/clinvar/319441 ^@ NM_022162.2(NOD2):c.875C>T (p.Ala292Val) http://identifiers.org/clinvar/319492 ^@ NM_022162.2(NOD2):c.*1156G>A http://identifiers.org/clinvar/312550 ^@ NM_005708.4(GPC6):c.1341C>T (p.Pro447=) http://identifiers.org/clinvar/312800 ^@ NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) http://identifiers.org/clinvar/313100 ^@ NM_020529.2(NFKBIA):c.*366G>A http://identifiers.org/clinvar/313250 ^@ NM_002408.3(MGAT2):c.-161C>G http://identifiers.org/clinvar/320431 ^@ NM_001361.4(DHODH):c.807T>A (p.Ser269Arg) http://identifiers.org/clinvar/320581 ^@ NM_021615.4(CHST6):c.*1047G>T http://identifiers.org/clinvar/313400 ^@ NM_000161.2(GCH1):c.-56G>A http://identifiers.org/clinvar/320781 ^@ NM_178452.5(DNAAF1):c.2070G>A (p.Pro690=) http://identifiers.org/clinvar/321081 ^@ NM_020686.5(ABAT):c.957T>G (p.His319Gln) http://identifiers.org/clinvar/313600 ^@ NM_182914.2(SYNE2):c.14340+11C>T http://identifiers.org/clinvar/313650 ^@ NM_182914.2(SYNE2):c.19204G>A (p.Glu6402Lys) http://identifiers.org/clinvar/320981 ^@ NM_001127464.2(ZNF469):c.7996C>T (p.Arg2666Cys) http://identifiers.org/clinvar/313700 ^@ NM_000347.5(SPTB):c.6270-8_6270-6dupTTC http://identifiers.org/clinvar/313850 ^@ NM_015346.3(ZFYVE26):c.*1740C>A http://identifiers.org/clinvar/321281 ^@ NM_003119.3(SPG7):c.1295C>T (p.Thr432Met) http://identifiers.org/clinvar/328722 ^@ NM_001031726.3(C19orf12):c.*437C>T http://identifiers.org/clinvar/328822 ^@ NM_000285.3(PEPD):c.259G>A (p.Asp87Asn) http://identifiers.org/clinvar/328872 ^@ NM_004646.3(NPHS1):c.1110T>C (p.Val370=) http://identifiers.org/clinvar/328972 ^@ NM_032753.3(RAX2):c.19G>A (p.Glu7Lys) http://identifiers.org/clinvar/329172 ^@ NM_033064.4(ATCAY):c.*976C>G http://identifiers.org/clinvar/329272 ^@ NM_181882.2(PRX):c.1891C>G (p.Leu631Val) http://identifiers.org/clinvar/329422 ^@ NM_152296.4(ATP1A3):c.994-3C>G http://identifiers.org/clinvar/329522 ^@ NM_000400.3(ERCC2):c.776G>A (p.Cys259Tyr) http://identifiers.org/clinvar/329572 ^@ NM_025136.3(OPA3):c.*6104_*6105delAA http://identifiers.org/clinvar/368789 ^@ NM_024921.3(POF1B):c.641A>G (p.Gln214Arg) http://identifiers.org/clinvar/329622 ^@ NM_025136.3(OPA3):c.*3531G>T http://identifiers.org/clinvar/328672 ^@ NM_001031726.3(C19orf12):c.*3096_*3097insG http://identifiers.org/clinvar/337748 ^@ NM_000214.2(JAG1):c.2917-7G>A http://identifiers.org/clinvar/329072 ^@ NM_000540.2(RYR1):c.7881G>A (p.Val2627=) http://identifiers.org/clinvar/329222 ^@ NM_017827.3(SARS2):c.394-5C>G http://identifiers.org/clinvar/329672 ^@ NM_025136.3(OPA3):c.*577T>C http://identifiers.org/clinvar/329722 ^@ NM_000554.5(CRX):c.*756T>A http://identifiers.org/clinvar/329772 ^@ NM_000554.5(CRX):c.*2785C>T http://identifiers.org/clinvar/337698 ^@ NM_018848.3(MKKS):c.-159A>G http://identifiers.org/clinvar/340849 ^@ NM_004782.3(SNAP29):c.*515_*522delACACACTC http://identifiers.org/clinvar/340899 ^@ NM_004782.3(SNAP29):c.*3015G>A http://identifiers.org/clinvar/386190 ^@ NM_020822.2(KCNT1):c.237C>T (p.Ser79=) http://identifiers.org/clinvar/392168 ^@ NM_007078.2(LDB3):c.1437G>C (p.Gly479=) http://identifiers.org/clinvar/386440 ^@ NM_016042.3(EXOSC3):c.588T>C (p.Asp196=) http://identifiers.org/clinvar/386840 ^@ NM_000238.3(KCNH2):c.*17G>C http://identifiers.org/clinvar/388229 ^@ NM_001003800.1(BICD2):c.478C>T (p.Arg160Cys) http://identifiers.org/clinvar/389279 ^@ NM_000051.3(ATM):c.5011G>T (p.Val1671Phe) http://identifiers.org/clinvar/383549 ^@ NM_000535.6(PMS2):c.1144+20C>T http://identifiers.org/clinvar/389329 ^@ NM_001909.4(CTSD):c.945C>T (p.Ile315=) http://identifiers.org/clinvar/381156 ^@ NM_000256.3(MYBPC3):c.2397C>T (p.Gly799=) http://identifiers.org/clinvar/389029 ^@ NM_024649.4(BBS1):c.830+3A>G http://identifiers.org/clinvar/388979 ^@ NM_014391.2(ANKRD1):c.750+5G>A http://identifiers.org/clinvar/391418 ^@ NM_012330.3(KAT6B):c.5592T>C (p.Ser1864=) http://identifiers.org/clinvar/391018 ^@ NM_002485.4(NBN):c.585-15T>C http://identifiers.org/clinvar/384350 ^@ NM_006231.3(POLE):c.1806G>A (p.Glu602=) http://identifiers.org/clinvar/383198 ^@ NM_006231.3(POLE):c.1014C>T (p.Pro338=) http://identifiers.org/clinvar/388129 ^@ NM_020297.3(ABCC9):c.1501G>A (p.Gly501Ser) http://identifiers.org/clinvar/391618 ^@ NM_020822.2(KCNT1):c.1695C>A (p.Arg565=) http://identifiers.org/clinvar/382447 ^@ NM_006231.3(POLE):c.3027G>T (p.Val1009=) http://identifiers.org/clinvar/380704 ^@ NM_000257.3(MYH7):c.84C>G (p.Thr28=) http://identifiers.org/clinvar/390918 ^@ NM_000136.2(FANCC):c.1072+14G>C http://identifiers.org/clinvar/383299 ^@ NM_213649.1(SFXN4):c.7C>T (p.Leu3=) http://identifiers.org/clinvar/388779 ^@ NM_014254.2(TMEM5):c.882C>T (p.Asn294=) http://identifiers.org/clinvar/383800 ^@ NM_000059.3(BRCA2):c.10195G>A (p.Ala3399Thr) http://identifiers.org/clinvar/387490 ^@ NM_001271.3(CHD2):c.907G>A (p.Gly303Ser) http://identifiers.org/clinvar/389429 ^@ NM_000548.4(TSC2):c.3918C>T (p.Gly1306=) http://identifiers.org/clinvar/387190 ^@ NM_004517.3(ILK):c.351+19A>T http://identifiers.org/clinvar/381106 ^@ NM_001018005.1(TPM1):c.639+10G>A http://identifiers.org/clinvar/384250 ^@ NM_139242.3(MTFMT):c.721+11G>A http://identifiers.org/clinvar/382798 ^@ NM_019109.4(ALG1):c.902-20G>A http://identifiers.org/clinvar/381256 ^@ NM_002693.2(POLG):c.2598+15T>G http://identifiers.org/clinvar/382397 ^@ NM_022041.3(GAN):c.1362A>G (p.Leu454=) http://identifiers.org/clinvar/380404 ^@ NM_000833.4(GRIN2A):c.2250C>T (p.Ile750=) http://identifiers.org/clinvar/386140 ^@ NM_000834.3(GRIN2B):c.4014C>T (p.His1338=) http://identifiers.org/clinvar/388879 ^@ NM_145691.3(ATPAF2):c.705G>A (p.Leu235=) http://identifiers.org/clinvar/47455 ^@ NM_133378.4(TTN):c.78822T>G (p.Val26274=) http://identifiers.org/clinvar/47505 ^@ NM_133378.4(TTN):c.83628C>T (p.Asn27876=) http://identifiers.org/clinvar/47555 ^@ NM_133378.4(TTN):c.87593C>T (p.Ser29198Phe) http://identifiers.org/clinvar/47605 ^@ NM_133378.4(TTN):c.90979+7G>C http://identifiers.org/clinvar/47655 ^@ NM_133378.4(TTN):c.95129G>T (p.Gly31710Val) http://identifiers.org/clinvar/47705 ^@ NM_133378.4(TTN):c.98741C>G (p.Thr32914Ser) http://identifiers.org/clinvar/47755 ^@ NM_001256850.1(TTN):c.10360+4179T>C http://identifiers.org/clinvar/47805 ^@ NM_133432.3(TTN):c.10385C>T (p.Thr3462Ile) http://identifiers.org/clinvar/47855 ^@ NM_138691.2(TMC1):c.1070A>G (p.Asn357Ser) http://identifiers.org/clinvar/47905 ^@ NM_144573.3(NEXN):c.341_342delAA (p.Gln114Argfs) http://identifiers.org/clinvar/47955 ^@ NM_144672.3(OTOA):c.615C>T (p.Arg205=) http://identifiers.org/clinvar/48007 ^@ NM_005709.3(USH1C):c.1599C>T (p.Ile533=) http://identifiers.org/clinvar/48057 ^@ NM_005572.3(LMNA):c.198T>C (p.Ser66=) http://identifiers.org/clinvar/48107 ^@ NM_172058.3(EYA1):c.1755T>C (p.His585=) http://identifiers.org/clinvar/48157 ^@ NM_178335.2(CCDC50):c.678A>G (p.Lys226=) http://identifiers.org/clinvar/48207 ^@ NM_194248.2(OTOF):c.2859C>T (p.Val953=) http://identifiers.org/clinvar/48257 ^@ NM_194248.2(OTOF):c.51C>T (p.Gly17=) http://identifiers.org/clinvar/48307 ^@ NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) http://identifiers.org/clinvar/48358 ^@ NM_206933.2(USH2A):c.10769C>T (p.Pro3590Leu) http://identifiers.org/clinvar/48408 ^@ NM_206933.2(USH2A):c.12868C>T (p.Gln4290Ter) http://identifiers.org/clinvar/48458 ^@ NM_206933.2(USH2A):c.1522G>A (p.Ala508Thr) http://identifiers.org/clinvar/48509 ^@ NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) http://identifiers.org/clinvar/49 ^@ NM_001199107.1(TBC1D24):c.1544C>T (p.Ala515Val) http://identifiers.org/clinvar/147 ^@ NM_000274.3(OAT):c.159delC (p.His53Glnfs) http://identifiers.org/clinvar/233 ^@ NM_182758.3(WDR72):c.2857delA (p.Ser953Valfs) http://identifiers.org/clinvar/256 ^@ NM_004628.4(XPC):c.1292_1293delAA (p.Lys431Argfs) http://identifiers.org/clinvar/288 ^@ NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) http://identifiers.org/clinvar/297 ^@ NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter) http://identifiers.org/clinvar/372 ^@ NM_000267.3(NF1):c.5710G>T (p.Glu1904Ter) http://identifiers.org/clinvar/536 ^@ NM_001142800.1(EYS):c.1767-24596_2023+238135del http://identifiers.org/clinvar/568 ^@ NM_018344.5(SLC29A3):c.347T>G (p.Met116Arg) http://identifiers.org/clinvar/1069 ^@ NM_015272.4(RPGRIP1L):c.1843A>C (p.Thr615Pro) http://identifiers.org/clinvar/1078 ^@ NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) http://identifiers.org/clinvar/1087 ^@ NM_017791.2(FLVCR2):c.1289C>G (p.Thr430Arg) http://identifiers.org/clinvar/1148 ^@ NM_001178007.1(BBS12):c.335_337delTAG (p.Val113del) http://identifiers.org/clinvar/1193 ^@ NM_001029871.3(RSPO4):c.218G>A (p.Cys73Tyr) http://identifiers.org/clinvar/1238 ^@ NM_152419.2(HGSNAT):c.1553C>T (p.Ser518Phe) http://identifiers.org/clinvar/1289 ^@ NM_001002261.3(ZFYVE27):c.572G>T (p.Gly191Val) http://identifiers.org/clinvar/1333 ^@ NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) http://identifiers.org/clinvar/1379 ^@ NM_153704.5(TMEM67):c.2556+1G>T http://identifiers.org/clinvar/1424 ^@ NM_015506.2(MMACHC):c.331C>T (p.Arg111Ter) http://identifiers.org/clinvar/1515 ^@ PKLR, -83G-C http://identifiers.org/clinvar/2147 ^@ NM_015384.4(NIPBL):c.3737C>G (p.Ala1246Gly) http://identifiers.org/clinvar/2194 ^@ NM_178857.5(RP1L1):c.2878T>C (p.Trp960Arg) http://identifiers.org/clinvar/2239 ^@ NM_000433.3(NCF2):c.399_400dupGA (p.Lys134Argfs) http://identifiers.org/clinvar/2284 ^@ NM_015046.5(SETX):c.4087C>T (p.Arg1363Ter) http://identifiers.org/clinvar/2376 ^@ BCKDHA, 8-BP DEL, 887-894 http://identifiers.org/clinvar/2420 ^@ NM_001875.4(CPS1):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/2605 ^@ NM_000049.2(ASPA):c.854A>C (p.Glu285Ala) http://identifiers.org/clinvar/2651 ^@ GORAB, 2-BP DEL/2-BP INS, NT-1 http://identifiers.org/clinvar/2697 ^@ NM_017436.5(A4GALT):c.1029dupC (p.Thr344Hisfs) http://identifiers.org/clinvar/2743 ^@ NM_004183.3(BEST1):c.122T>C (p.Leu41Pro) http://identifiers.org/clinvar/2789 ^@ GBE1, 1-BP INS, 38A http://identifiers.org/clinvar/2833 ^@ NM_000019.3(ACAT1):c.547G>A (p.Gly183Arg) http://identifiers.org/clinvar/2924 ^@ SAR1B, 2-BP DEL, 75TG http://identifiers.org/clinvar/3014 ^@ NM_133497.3(KCNV2):c.767C>G (p.Ser256Trp) http://identifiers.org/clinvar/3064 ^@ NM_000487.5(ARSA):c.413C>T (p.Pro138Leu) http://identifiers.org/clinvar/3111 ^@ LRPPRC, 8-BP DEL, EXON 35 http://identifiers.org/clinvar/3163 ^@ NM_173353.3(TPH2):c.907C>T (p.Arg303Trp) http://identifiers.org/clinvar/3209 ^@ NM_001079802.1(FKTN):c.1073A>C (p.Gln358Pro) http://identifiers.org/clinvar/3258 ^@ NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) http://identifiers.org/clinvar/3302 ^@ LIPH, 5-BP DEL, NT346 http://identifiers.org/clinvar/3348 ^@ NM_000348.3(SRD5A2):c.635C>G (p.Pro212Arg) http://identifiers.org/clinvar/100058 ^@ NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) http://identifiers.org/clinvar/10599 ^@ NM_000133.3(F9):c.804T>G (p.Cys268Trp) http://identifiers.org/clinvar/10643 ^@ NM_000133.3(F9):c.328G>A (p.Asp110Asn) http://identifiers.org/clinvar/10734 ^@ NM_000169.2(GLA):c.791A>T (p.Asp264Val) http://identifiers.org/clinvar/10824 ^@ FGD1, 1-BP INS, 2122G http://identifiers.org/clinvar/10915 ^@ BCOR, EX9-15DEL http://identifiers.org/clinvar/10960 ^@ NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS http://identifiers.org/clinvar/11005 ^@ OTC, IVS2, G-A, -1 http://identifiers.org/clinvar/11050 ^@ NLGN4, 1-BP INS, 1186T http://identifiers.org/clinvar/11096 ^@ PLP1, IVS3DS, A-G, +4 http://identifiers.org/clinvar/11140 ^@ NM_182680.1(AMELX):c.152C>T (p.Thr51Ile) http://identifiers.org/clinvar/11187 ^@ NM_139058.2(ARX):c.428_451dup24 (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/11231 ^@ DMD, EX1DEL http://identifiers.org/clinvar/11277 ^@ DMD, 1-BP DEL, 10683C http://identifiers.org/clinvar/11321 ^@ NM_004085.3(TIMM8A):c.198C>G (p.Cys66Trp) http://identifiers.org/clinvar/11368 ^@ NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) http://identifiers.org/clinvar/11577 ^@ OPHN1, 1-BP DEL, NT1578 http://identifiers.org/clinvar/11627 ^@ NM_001493.2(GDI1):c.208C>T (p.Arg70Ter) http://identifiers.org/clinvar/11678 ^@ NM_000307.4(POU3F4):c.604A>T (p.Lys202Ter) http://identifiers.org/clinvar/11728 ^@ NM_000489.4(ATRX):c.7156C>T (p.Arg2386Ter) http://identifiers.org/clinvar/11780 ^@ ATP7A, IVSXDS, A-T, +3 http://identifiers.org/clinvar/11830 ^@ MECP2, 240-BP DEL, NT1161 http://identifiers.org/clinvar/11880 ^@ NM_002769.4(PRSS1):c.235G>A (p.Glu79Lys) http://identifiers.org/clinvar/11930 ^@ NM_000431.3(MVK):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/11980 ^@ NM_000481.3(AMT):c.574C>T (p.Gln192Ter) http://identifiers.org/clinvar/12032 ^@ NM_000221.2(KHK):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/12082 ^@ F7, -94C-G http://identifiers.org/clinvar/12132 ^@ NM_000387.5(SLC25A20):c.897dupC (p.Asn300Glnfs) http://identifiers.org/clinvar/12185 ^@ HSD3B2, 1-BP INS http://identifiers.org/clinvar/12238 ^@ CDH1, IVS1AS, A-G, -2 http://identifiers.org/clinvar/12288 ^@ NM_001072.3(UGT1A6):c.862-10021T>G http://identifiers.org/clinvar/12340 ^@ NM_001065.3(TNFRSF1A):c.350G>A (p.Cys117Tyr) http://identifiers.org/clinvar/12391 ^@ TSC2, 1-BP DEL, 5110A http://identifiers.org/clinvar/12443 ^@ NM_003280.2(TNNC1):c.23C>T (p.Ala8Val) http://identifiers.org/clinvar/12543 ^@ NM_001128177.1(THRB):c.994G>A (p.Gly332Arg) http://identifiers.org/clinvar/12695 ^@ NM_003235.4(TG):c.886C>T (p.Arg296Ter) http://identifiers.org/clinvar/12746 ^@ NM_000733.3(CD3E):c.128_129delCC (p.Thr43Asnfs) http://identifiers.org/clinvar/12796 ^@ NM_004959.4(NR5A1):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/12846 ^@ NM_003126.2(SPTA1):c.2909C>A (p.Ala970Asp) http://identifiers.org/clinvar/12897 ^@ NM_006920.4(SCN1A):c.603-91G>A http://identifiers.org/clinvar/12947 ^@ FUT2, DEL http://identifiers.org/clinvar/12998 ^@ ROM1, 1-BP INS, 114G http://identifiers.org/clinvar/242791 ^@ NM_000448.2(RAG1):c.1519C>T (p.Arg507Trp) http://identifiers.org/clinvar/36685 ^@ NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) http://identifiers.org/clinvar/36738 ^@ NM_001035.2(RYR2):c.2204-7C>G http://identifiers.org/clinvar/36789 ^@ NM_139276.2(STAT3):c.1780G>A (p.Glu594Lys) http://identifiers.org/clinvar/36839 ^@ NM_000458.3(HNF1B):c.1325T>C (p.Met442Thr) http://identifiers.org/clinvar/36890 ^@ NM_000371.3(TTR):c.210T>A (p.Ser70Arg) http://identifiers.org/clinvar/36959 ^@ NM_002501.3(NFIX):c.1008_1012delCTCTC (p.Ser337Glyfs) http://identifiers.org/clinvar/37884 ^@ NM_000059.3(BRCA2):c.4151T>A (p.Leu1384Ter) http://identifiers.org/clinvar/37937 ^@ NM_000059.3(BRCA2):c.4979C>T (p.Pro1660Leu) http://identifiers.org/clinvar/37990 ^@ NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) http://identifiers.org/clinvar/38042 ^@ NM_000059.3(BRCA2):c.6399_6401delAAA (p.Asn2135del) http://identifiers.org/clinvar/38095 ^@ NM_000059.3(BRCA2):c.7419_7420delTG (p.Cys2473Terfs) http://identifiers.org/clinvar/38145 ^@ NM_000059.3(BRCA2):c.8239G>A (p.Val2747Ile) http://identifiers.org/clinvar/38195 ^@ NM_000059.3(BRCA2):c.8940dupA (p.Glu2981Argfs) http://identifiers.org/clinvar/38245 ^@ NM_000059.3(BRCA2):c.9522T>A (p.Asn3174Lys) http://identifiers.org/clinvar/38362 ^@ NM_002769.4(PRSS1):c.415T>A (p.Cys139Ser) http://identifiers.org/clinvar/38419 ^@ NM_024312.4(GNPTAB):c.2533C>T (p.Gln845Ter) http://identifiers.org/clinvar/38799 ^@ NM_000492.3(CFTR):c.489+1G>T http://identifiers.org/clinvar/38747 ^@ NM_000495.4(COL4A5):c.430G>C (p.Gly144Arg) http://identifiers.org/clinvar/38921 ^@ NM_001099274.1(TINF2):c.848C>A (p.Pro283His) http://identifiers.org/clinvar/38972 ^@ NM_001040138.2(CKLF):c.-7863_-2035delinsoAC010542.7:g.65062_65110 http://identifiers.org/clinvar/39023 ^@ NM_024312.4(GNPTAB):c.118-?_203+?dup86 http://identifiers.org/clinvar/39073 ^@ NM_024312.4(GNPTAB):c.342_343delCA (p.Thr115Asnfs) http://identifiers.org/clinvar/39130 ^@ NM_198578.3(LRRK2):c.1096G>A (p.Val366Met) http://identifiers.org/clinvar/39180 ^@ NM_198578.3(LRRK2):c.4258G>A (p.Asp1420Asn) http://identifiers.org/clinvar/39230 ^@ NM_198578.3(LRRK2):c.6782A>T (p.Asn2261Ile) http://identifiers.org/clinvar/39281 ^@ NR_001566.1(TERC):n.117A>C http://identifiers.org/clinvar/39443 ^@ NR_023343.1(RNU4ATAC):n.124G>A http://identifiers.org/clinvar/39495 ^@ SLC5A7, 1-BP DEL, 1497G http://identifiers.org/clinvar/39545 ^@ NM_001139.2(ALOX12B):c.1642C>T (p.Arg548Trp) http://identifiers.org/clinvar/39595 ^@ NM_020822.2(KCNT1):c.1421G>A (p.Arg474His) http://identifiers.org/clinvar/39647 ^@ NM_002524.4(NRAS):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/39699 ^@ NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter) http://identifiers.org/clinvar/40288 ^@ NM_002335.3(LRP5):c.1145C>T (p.Pro382Leu) http://identifiers.org/clinvar/40393 ^@ NM_004333.4(BRAF):c.1992+16G>C http://identifiers.org/clinvar/40465 ^@ NM_004985.4(KRAS):c.458A>G (p.Asp153Gly) http://identifiers.org/clinvar/40523 ^@ NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) http://identifiers.org/clinvar/52306 ^@ NM_000059.3(BRCA2):c.7307A>T (p.Asn2436Ile) http://identifiers.org/clinvar/52356 ^@ NM_000059.3(BRCA2):c.7562T>C (p.Ile2521Thr) http://identifiers.org/clinvar/52407 ^@ NM_000059.3(BRCA2):c.7772A>G (p.Asn2591Ser) http://identifiers.org/clinvar/52457 ^@ NM_000059.3(BRCA2):c.7977-7C>G http://identifiers.org/clinvar/52507 ^@ NM_000059.3(BRCA2):c.8111C>T (p.Ser2704Phe) http://identifiers.org/clinvar/52558 ^@ NM_000059.3(BRCA2):c.8348dupC (p.Arg2784Serfs) http://identifiers.org/clinvar/52608 ^@ NM_000059.3(BRCA2):c.8505delA (p.Ser2836Leufs) http://identifiers.org/clinvar/52660 ^@ NM_000059.3(BRCA2):c.8713_8716delTATG (p.Tyr2905Lysfs) http://identifiers.org/clinvar/52710 ^@ NM_000059.3(BRCA2):c.8953+5G>T http://identifiers.org/clinvar/52761 ^@ NM_000059.3(BRCA2):c.913G>A (p.Glu305Lys) http://identifiers.org/clinvar/52812 ^@ NM_000059.3(BRCA2):c.930_931delAT (p.Cys311Phefs) http://identifiers.org/clinvar/52863 ^@ NM_000059.3(BRCA2):c.952A>T (p.Lys318Ter) http://identifiers.org/clinvar/52913 ^@ NM_000059.3(BRCA2):c.9905G>A (p.Arg3302Lys) http://identifiers.org/clinvar/52963 ^@ NM_000218.2(KCNQ1):c.1128+1G>T http://identifiers.org/clinvar/53013 ^@ NM_000218.2(KCNQ1):c.1725_1728delCGTC (p.Val576Glnfs) http://identifiers.org/clinvar/53063 ^@ NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) http://identifiers.org/clinvar/53114 ^@ NM_000218.2(KCNQ1):c.828_830delCTC (p.Ser277del) http://identifiers.org/clinvar/53165 ^@ NM_000492.3(CFTR):c.1012A>G (p.Thr338Ala) http://identifiers.org/clinvar/53217 ^@ NM_000492.3(CFTR):c.1210-1G>C http://identifiers.org/clinvar/53269 ^@ NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr) http://identifiers.org/clinvar/53320 ^@ NM_000492.3(CFTR):c.1652delG (p.Gly551Valfs) http://identifiers.org/clinvar/53370 ^@ NM_000492.3(CFTR):c.1745C>G (p.Thr582Arg) http://identifiers.org/clinvar/53421 ^@ NM_000492.3(CFTR):c.1986_1989delAACT (p.Thr663Argfs) http://identifiers.org/clinvar/53474 ^@ NM_000492.3(CFTR):c.2327C>G (p.Ser776Ter) http://identifiers.org/clinvar/53525 ^@ NM_000492.3(CFTR):c.2619+3A>G http://identifiers.org/clinvar/53575 ^@ NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) http://identifiers.org/clinvar/53626 ^@ NM_000492.3(CFTR):c.3014T>G (p.Ile1005Arg) http://identifiers.org/clinvar/54326 ^@ NM_007294.3(BRCA1):c.1690A>C (p.Asn564His) http://identifiers.org/clinvar/54377 ^@ NM_007294.3(BRCA1):c.1879G>A (p.Val627Ile) http://identifiers.org/clinvar/54427 ^@ NM_007294.3(BRCA1):c.1985A>G (p.His662Arg) http://identifiers.org/clinvar/54477 ^@ NM_007294.3(BRCA1):c.2155_2168delAAAGAATTTGTCAA (p.Lys719Serfs) http://identifiers.org/clinvar/54527 ^@ NM_007294.3(BRCA1):c.2309C>A (p.Ser770Ter) http://identifiers.org/clinvar/54577 ^@ NM_007294.3(BRCA1):c.2476delA (p.Thr826Glnfs) http://identifiers.org/clinvar/54627 ^@ NM_007294.3(BRCA1):c.2646_2648delTGC (p.Cys882_Ser1217delinsTer) http://identifiers.org/clinvar/101280 ^@ NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu) http://identifiers.org/clinvar/101330 ^@ NP_000081.1:p.Gly555_Asp587del http://identifiers.org/clinvar/101380 ^@ NM_000090.3(COL3A1):c.3417+1G>C (p.Gly1122_Arg1139del+) http://identifiers.org/clinvar/101430 ^@ NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) http://identifiers.org/clinvar/101480 ^@ NM_000090.3(COL3A1):c.3417+1G>T (p.Gly1122_Arg1139del+) http://identifiers.org/clinvar/103258 ^@ NM_138329.2(NLRP6):c.851T>C (p.Leu284Pro) http://identifiers.org/clinvar/103308 ^@ NM_176810.2(NLRP13):c.2112-290T>G http://identifiers.org/clinvar/103358 ^@ NM_178844.3(NLRC3):c.179-40C>A http://identifiers.org/clinvar/111232 ^@ NM_005534.3(IFNGR2):c.207-109A>G http://identifiers.org/clinvar/120092 ^@ NM_001629.3(ALOX5AP):c.323+2451T>C http://identifiers.org/clinvar/120244 ^@ NM_017637.5(BNC2):c.916C>G (p.Pro306Ala) http://identifiers.org/clinvar/120294 ^@ NM_000277.1(PAH):c.913-3C>G http://identifiers.org/clinvar/125519 ^@ NM_007294.3(BRCA1):c.80+4A>T http://identifiers.org/clinvar/125674 ^@ NM_007294.3(BRCA1):c.4097-141A>C http://identifiers.org/clinvar/125738 ^@ NM_007294.3(BRCA1):c.4986+1G>A http://identifiers.org/clinvar/125812 ^@ NM_007294.3(BRCA1):c.5277+48_5277+49insGTATTCCACTCC http://identifiers.org/clinvar/125874 ^@ NM_007294.3(BRCA1):c.456_457delCA (p.Ser153Cysfs) http://identifiers.org/clinvar/125937 ^@ NM_000059.3(BRCA2):c.1231delA (p.Ile411Tyrfs) http://identifiers.org/clinvar/126001 ^@ NM_000059.3(BRCA2):c.2978G>A (p.Trp993Ter) http://identifiers.org/clinvar/126069 ^@ NM_000059.3(BRCA2):c.5492dupT (p.Ser1832Ilefs) http://identifiers.org/clinvar/126139 ^@ NM_000059.3(BRCA2):c.7505G>C (p.Arg2502Pro) http://identifiers.org/clinvar/126198 ^@ NM_000059.3(BRCA2):c.9066_9067insAA (p.Ala3023Lysfs) http://identifiers.org/clinvar/126257 ^@ NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) http://identifiers.org/clinvar/126307 ^@ NM_153704.5(TMEM67):c.781G>A (p.Asp261Asn) http://identifiers.org/clinvar/126358 ^@ NM_001128849.1(SMARCA4):c.1509A>G (p.Ala503=) http://identifiers.org/clinvar/126415 ^@ NG_021296.1:g.30239_72010dup41772 http://identifiers.org/clinvar/126482 ^@ NM_021625.4(TRPV4):c.717G>C (p.Gln239His) http://identifiers.org/clinvar/126569 ^@ NM_024675.3(PALB2):c.49-104C>T http://identifiers.org/clinvar/127647 ^@ NM_000251.2(MSH2):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/127706 ^@ NM_000455.4(STK11):c.875A>T (p.Tyr292Phe) http://identifiers.org/clinvar/159941 ^@ NM_006306.3(SMC1A):c.1457A>G (p.Asp486Gly) http://identifiers.org/clinvar/160361 ^@ NM_002386.3(MC1R):c.793G>A (p.Val265Ile) http://identifiers.org/clinvar/160816 ^@ GRCh38/hg38 12p11.1(chr12:33392214-34603274)x3 http://identifiers.org/clinvar/160867 ^@ GRCh38/hg38 2q13(chr2:110104900-110207160)x0 http://identifiers.org/clinvar/160920 ^@ GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 http://identifiers.org/clinvar/161410 ^@ NM_001543.4(NDST1):c.1926G>T (p.Glu642Asp) http://identifiers.org/clinvar/179891 ^@ NM_133378.4(TTN):c.88144G>A (p.Glu29382Lys) http://identifiers.org/clinvar/179002 ^@ NM_133378.4(TTN):c.73154C>T (p.Thr24385Met) http://identifiers.org/clinvar/165919 ^@ NM_133378.4(TTN):c.54211T>C (p.Tyr18071His) http://identifiers.org/clinvar/166483 ^@ NM_206933.2(USH2A):c.6492A>C (p.Lys2164Asn) http://identifiers.org/clinvar/178583 ^@ NM_206933.2(USH2A):c.2332G>T (p.Asp778Tyr) http://identifiers.org/clinvar/180041 ^@ NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) http://identifiers.org/clinvar/180091 ^@ NM_133378.4(TTN):c.87577G>A (p.Glu29193Lys) http://identifiers.org/clinvar/178183 ^@ NM_133378.4(TTN):c.76444A>G (p.Ile25482Val) http://identifiers.org/clinvar/165824 ^@ NM_133378.4(TTN):c.71151T>C (p.Asp23717=) http://identifiers.org/clinvar/178233 ^@ NM_133378.4(TTN):c.24455C>T (p.Pro8152Leu) http://identifiers.org/clinvar/166245 ^@ NM_133432.3(TTN):c.10726G>A (p.Glu3576Lys) http://identifiers.org/clinvar/166117 ^@ NM_133378.4(TTN):c.28030+4C>T http://identifiers.org/clinvar/166295 ^@ NM_133378.4(TTN):c.9820A>C (p.Lys3274Gln) http://identifiers.org/clinvar/166355 ^@ NM_133378.4(TTN):c.1068G>A (p.Glu356=) http://identifiers.org/clinvar/165989 ^@ NM_133378.4(TTN):c.45476C>G (p.Ser15159Cys) http://identifiers.org/clinvar/178383 ^@ NM_001199799.1(ILDR1):c.1324C>T (p.Arg442Cys) http://identifiers.org/clinvar/178133 ^@ NM_198056.2(SCN5A):c.1890+14G>A http://identifiers.org/clinvar/177931 ^@ NM_000258.2(MYL3):c.187C>T (p.Arg63Cys) http://identifiers.org/clinvar/166574 ^@ NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) http://identifiers.org/clinvar/177781 ^@ NM_004415.3(DSP):c.2723G>A (p.Arg908His) http://identifiers.org/clinvar/178633 ^@ NM_206883.2(SLC26A5):c.570+6G>A http://identifiers.org/clinvar/165256 ^@ NM_000441.1(SLC26A4):c.1545-7delC http://identifiers.org/clinvar/178333 ^@ NM_004403.2(DFNA5):c.658G>A (p.Gly220Ser) http://identifiers.org/clinvar/198428 ^@ NM_000532.4(PCCB):c.683C>T (p.Pro228Leu) http://identifiers.org/clinvar/198478 ^@ NM_001144996.1(ITGA7):c.1011-4A>G http://identifiers.org/clinvar/198532 ^@ NM_005603.4(ATP8B1):c.607A>G (p.Lys203Glu) http://identifiers.org/clinvar/198583 ^@ NM_020630.4(RET):c.1300A>G (p.Ser434Gly) http://identifiers.org/clinvar/198636 ^@ NM_207122.1(EXT2):c.1080-18T>A http://identifiers.org/clinvar/198686 ^@ NM_000030.2(AGXT):c.836T>C (p.Ile279Thr) http://identifiers.org/clinvar/198741 ^@ NM_000532.4(PCCB):c.877G>A (p.Asp293Asn) http://identifiers.org/clinvar/198900 ^@ NM_021939.3(FKBP10):c.1307T>C (p.Ile436Thr) http://identifiers.org/clinvar/198953 ^@ NM_182914.2(SYNE2):c.15248A>G (p.Asp5083Gly) http://identifiers.org/clinvar/199005 ^@ NM_000282.3(PCCA):c.686T>A (p.Met229Lys) http://identifiers.org/clinvar/199055 ^@ NM_001080522.2(CC2D2A):c.603C>T (p.Pro201=) http://identifiers.org/clinvar/199109 ^@ NM_005529.6(HSPG2):c.959-5C>T http://identifiers.org/clinvar/199160 ^@ NM_020732.3(ARID1B):c.2692C>T (p.Arg898Ter) http://identifiers.org/clinvar/199215 ^@ NM_000540.2(RYR1):c.13044G>A (p.Ala4348=) http://identifiers.org/clinvar/199436 ^@ NM_014176.3(UBE2T):c.4C>G (p.Gln2Glu) http://identifiers.org/clinvar/200961 ^@ NM_170707.3(LMNA):c.978_979delAC (p.Leu327Glyfs) http://identifiers.org/clinvar/201209 ^@ NM_001035.2(RYR2):c.1144G>A (p.Val382Met) http://identifiers.org/clinvar/199716 ^@ NM_000090.3(COL3A1):c.1028T>C (p.Phe343Ser) http://identifiers.org/clinvar/199881 ^@ NM_004415.3(DSP):c.3805C>T (p.Arg1269Ter) http://identifiers.org/clinvar/199937 ^@ NM_004415.3(DSP):c.6055G>T (p.Ala2019Ser) http://identifiers.org/clinvar/200235 ^@ NM_000238.3(KCNH2):c.2398+58C>T http://identifiers.org/clinvar/200363 ^@ NM_000238.3(KCNH2):c.1675C>T (p.Leu559Phe) http://identifiers.org/clinvar/200537 ^@ NM_000238.3(KCNH2):c.77-1G>A http://identifiers.org/clinvar/200105 ^@ NM_000138.4(FBN1):c.7125T>A (p.Cys2375Ter) http://identifiers.org/clinvar/200165 ^@ NM_000138.4(FBN1):c.5957dupC (p.Gly1987Argfs) http://identifiers.org/clinvar/200052 ^@ NM_000138.4(FBN1):c.4621C>T (p.Arg1541Ter) http://identifiers.org/clinvar/199997 ^@ NM_000138.4(FBN1):c.2434G>A (p.Glu812Lys) http://identifiers.org/clinvar/201090 ^@ NM_002474.2(MYH11):c.5666C>T (p.Ala1889Val) http://identifiers.org/clinvar/201037 ^@ NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) http://identifiers.org/clinvar/199771 ^@ NM_024422.4(DSC2):c.2245A>C (p.Lys749Gln) http://identifiers.org/clinvar/199826 ^@ NM_001943.4(DSG2):c.2649_2651delCTC (p.Ser884del) http://identifiers.org/clinvar/201153 ^@ NM_000540.2(RYR1):c.14815G>A (p.Asp4939Asn) http://identifiers.org/clinvar/202153 ^@ NM_014000.2(VCL):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/242587 ^@ NM_004369.3(COL6A3):c.6859delC (p.Arg2287Glyfs) http://identifiers.org/clinvar/202205 ^@ NM_000388.3(CASR):c.2482A>C (p.Thr828Pro) http://identifiers.org/clinvar/203099 ^@ NM_001256850.1(TTN):c.100589C>T (p.Thr33530Ile) http://identifiers.org/clinvar/203049 ^@ NM_001256850.1(TTN):c.94595G>A (p.Cys31532Tyr) http://identifiers.org/clinvar/202999 ^@ NM_001256850.1(TTN):c.89152G>A (p.Val29718Ile) http://identifiers.org/clinvar/202490 ^@ NM_133378.4(TTN):c.81565delA (p.Lys27189Serfs) http://identifiers.org/clinvar/202949 ^@ NM_001256850.1(TTN):c.83666T>A (p.Ile27889Asn) http://identifiers.org/clinvar/202899 ^@ NM_001256850.1(TTN):c.75491A>C (p.Glu25164Ala) http://identifiers.org/clinvar/202849 ^@ NM_001256850.1(TTN):c.68503G>A (p.Glu22835Lys) http://identifiers.org/clinvar/202799 ^@ NM_001256850.1(TTN):c.60896A>G (p.Asn20299Ser) http://identifiers.org/clinvar/231577 ^@ NM_000038.5(APC):c.7856A>C (p.Glu2619Ala) http://identifiers.org/clinvar/231827 ^@ NM_005732.3(RAD50):c.199G>A (p.Val67Ile) http://identifiers.org/clinvar/231777 ^@ NM_005732.3(RAD50):c.1978G>T (p.Ala660Ser) http://identifiers.org/clinvar/230977 ^@ NM_005732.3(RAD50):c.3206G>T (p.Arg1069Ile) http://identifiers.org/clinvar/230877 ^@ NM_004168.3(SDHA):c.1151C>G (p.Ser384Ter) http://identifiers.org/clinvar/233769 ^@ NM_002485.4(NBN):c.1417C>A (p.Gln473Lys) http://identifiers.org/clinvar/231677 ^@ NM_002485.4(NBN):c.120G>C (p.Ser40=) http://identifiers.org/clinvar/232967 ^@ NM_020975.4(RET):c.1066C>T (p.Leu356=) http://identifiers.org/clinvar/234070 ^@ NM_004329.2(BMPR1A):c.1439G>T (p.Arg480Leu) http://identifiers.org/clinvar/230727 ^@ NM_000314.6(PTEN):c.819T>C (p.Phe273=) http://identifiers.org/clinvar/231277 ^@ NM_000051.3(ATM):c.3078-1G>A http://identifiers.org/clinvar/231127 ^@ NM_000051.3(ATM):c.3102T>C (p.Tyr1034=) http://identifiers.org/clinvar/234020 ^@ NM_000051.3(ATM):c.3256C>T (p.Arg1086Cys) http://identifiers.org/clinvar/233567 ^@ NM_000051.3(ATM):c.4145C>T (p.Pro1382Leu) http://identifiers.org/clinvar/231427 ^@ NM_000051.3(ATM):c.5263A>G (p.Met1755Val) http://identifiers.org/clinvar/231727 ^@ NM_000051.3(ATM):c.7577G>C (p.Arg2526Thr) http://identifiers.org/clinvar/233467 ^@ NM_005591.3(MRE11):c.2004C>T (p.Ser668=) http://identifiers.org/clinvar/231527 ^@ NM_000059.3(BRCA2):c.5979A>G (p.Leu1993=) http://identifiers.org/clinvar/231927 ^@ NM_000548.4(TSC2):c.2122C>T (p.Leu708=) http://identifiers.org/clinvar/233517 ^@ NM_000548.4(TSC2):c.2515A>G (p.Met839Val) http://identifiers.org/clinvar/231477 ^@ NM_000548.4(TSC2):c.4990-3C>T http://identifiers.org/clinvar/231227 ^@ NM_024675.3(PALB2):c.2968G>T (p.Glu990Ter) http://identifiers.org/clinvar/229738 ^@ NM_024675.3(PALB2):c.1732A>G (p.Ser578Gly) http://identifiers.org/clinvar/234120 ^@ NM_004360.4(CDH1):c.821G>A (p.Gly274Asp) http://identifiers.org/clinvar/230777 ^@ NM_004360.4(CDH1):c.1286C>T (p.Pro429Leu) http://identifiers.org/clinvar/233667 ^@ NM_004360.4(CDH1):c.2071G>A (p.Ala691Thr) http://identifiers.org/clinvar/231077 ^@ NM_004360.4(CDH1):c.2265T>C (p.Tyr755=) http://identifiers.org/clinvar/233417 ^@ NM_004360.4(CDH1):c.2296-2A>G http://identifiers.org/clinvar/233717 ^@ NM_001042492.2(NF1):c.6333A>G (p.Val2111=) http://identifiers.org/clinvar/231627 ^@ NM_007294.3(BRCA1):c.3505G>T (p.Asp1169Tyr) http://identifiers.org/clinvar/233617 ^@ NM_007294.3(BRCA1):c.1836dupG (p.Arg613Glufs) http://identifiers.org/clinvar/231027 ^@ NM_007294.3(BRCA1):c.1776C>T (p.Ser592=) http://identifiers.org/clinvar/231377 ^@ NM_007294.3(BRCA1):c.219A>G (p.Leu73=) http://identifiers.org/clinvar/230827 ^@ NM_058216.2(RAD51C):c.-2C>T http://identifiers.org/clinvar/234220 ^@ NM_032043.2(BRIP1):c.2498T>C (p.Ile833Thr) http://identifiers.org/clinvar/229788 ^@ NM_032043.2(BRIP1):c.400C>A (p.Leu134Met) http://identifiers.org/clinvar/231327 ^@ NM_007194.3(CHEK2):c.1113C>T (p.His371=) http://identifiers.org/clinvar/233819 ^@ NM_007194.3(CHEK2):c.788_790dupAGG (p.Glu263_Ala264insGlu) http://identifiers.org/clinvar/229688 ^@ NM_007194.3(CHEK2):c.409_410delCGinsTC (p.Arg137Ser) http://identifiers.org/clinvar/235541 ^@ NC_012920.1:m.9368A>G http://identifiers.org/clinvar/235592 ^@ NM_001854.3(COL11A1):c.4606C>G (p.Pro1536Ala) http://identifiers.org/clinvar/235642 ^@ NM_000124.3(ERCC6):c.1337G>A (p.Gly446Asp) http://identifiers.org/clinvar/242380 ^@ NM_000157.3(GBA):c.167T>G (p.Val56Gly) http://identifiers.org/clinvar/242006 ^@ NM_170707.3(LMNA):c.93G>A (p.Glu31=) http://identifiers.org/clinvar/239816 ^@ NM_004304.4(ALK):c.2928C>T (p.His976=) http://identifiers.org/clinvar/241756 ^@ NM_053025.3(MYLK):c.2776C>T (p.Arg926Cys) http://identifiers.org/clinvar/242206 ^@ NM_198056.2(SCN5A):c.656G>A (p.Arg219His) http://identifiers.org/clinvar/240667 ^@ NM_006514.3(SCN10A):c.3133C>A (p.Pro1045Thr) http://identifiers.org/clinvar/240066 ^@ NM_004656.3(BAP1):c.779A>G (p.Gln260Arg) http://identifiers.org/clinvar/240917 ^@ NM_014476.5(PDLIM3):c.836C>T (p.Thr279Met) http://identifiers.org/clinvar/240317 ^@ NM_006206.4(PDGFRA):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/240367 ^@ NM_006206.4(PDGFRA):c.983A>G (p.Asn328Ser) http://identifiers.org/clinvar/241856 ^@ NM_139076.2(FAM175A):c.299A>T (p.Tyr100Phe) http://identifiers.org/clinvar/240217 ^@ NM_005732.3(RAD50):c.1794-7A>C http://identifiers.org/clinvar/239063 ^@ NM_001903.4(CTNNA1):c.2013G>A (p.Ala671=) http://identifiers.org/clinvar/239666 ^@ NM_004168.3(SDHA):c.287C>T (p.Thr96Ile) http://identifiers.org/clinvar/239113 ^@ NM_002290.4(LAMA4):c.3145G>A (p.Gly1049Ser) http://identifiers.org/clinvar/239213 ^@ NM_002667.4(PLN):c.-211-218C>T http://identifiers.org/clinvar/261805 ^@ NM_025074.6(FRAS1):c.2450C>T (p.Ala817Val) http://identifiers.org/clinvar/257976 ^@ NM_001369.2(DNAH5):c.11280A>G (p.Leu3760=) http://identifiers.org/clinvar/258026 ^@ NM_001369.2(DNAH5):c.4053+13C>T http://identifiers.org/clinvar/263055 ^@ NM_182925.4(FLT4):c.3962G>A (p.Arg1321Gln) http://identifiers.org/clinvar/257376 ^@ NM_001080479.2(ARHGEF28):c.673T>C (p.Trp225Arg) http://identifiers.org/clinvar/259365 ^@ NM_004385.4(VCAN):c.4422T>C (p.Thr1474=) http://identifiers.org/clinvar/262155 ^@ NM_033071.3(SYNE1):c.11848T>C (p.Cys3950Arg) http://identifiers.org/clinvar/262205 ^@ NM_033071.3(SYNE1):c.9785C>T (p.Ser3262Leu) http://identifiers.org/clinvar/257626 ^@ NM_001206927.1(DNAH8):c.10141-4delA http://identifiers.org/clinvar/262405 ^@ NM_138694.3(PKHD1):c.5236+31_5236+34delCTTT http://identifiers.org/clinvar/259615 ^@ NM_005045.3(RELN):c.8667+45T>C http://identifiers.org/clinvar/258126 ^@ NM_001458.4(FLNC):c.1549+15C>A http://identifiers.org/clinvar/260266 ^@ NM_012470.3(TNPO3):c.321+16C>T http://identifiers.org/clinvar/262305 ^@ NM_058246.3(DNAJB6):c.176-20A>G http://identifiers.org/clinvar/257876 ^@ NM_001277115.1(DNAH11):c.188G>C (p.Gly63Ala) http://identifiers.org/clinvar/257926 ^@ NM_001277115.1(DNAH11):c.7332G>A (p.Pro2444=) http://identifiers.org/clinvar/261955 ^@ NM_031243.2(HNRNPA2B1):c.681T>C (p.Phe227=) http://identifiers.org/clinvar/262805 ^@ NM_172218.2(SPAG1):c.991G>A (p.Glu331Lys) http://identifiers.org/clinvar/258176 ^@ NM_001715.2(BLK):c.1302G>A (p.Val434=) http://identifiers.org/clinvar/259916 ^@ NM_006096.3(NDRG1):c.64-6T>C http://identifiers.org/clinvar/260916 ^@ NM_017780.3(CHD7):c.8322C>G (p.Gly2774=) http://identifiers.org/clinvar/262755 ^@ NM_153704.5(TMEM67):c.717A>G (p.Val239=) http://identifiers.org/clinvar/262655 ^@ NM_152564.4(VPS13B):c.11052C>G (p.Leu3684=) http://identifiers.org/clinvar/260416 ^@ NM_014425.4(INVS):c.3153T>C (p.Tyr1051=) http://identifiers.org/clinvar/260216 ^@ NM_012210.3(TRIM32):c.770C>G (p.Thr257Arg) http://identifiers.org/clinvar/260516 ^@ NM_015046.5(SETX):c.7100+27A>G http://identifiers.org/clinvar/262455 ^@ NM_139025.4(ADAMTS13):c.987+11C>T http://identifiers.org/clinvar/257526 ^@ NM_001128227.2(GNE):c.51+34T>C http://identifiers.org/clinvar/262855 ^@ NM_173551.4(ANKS6):c.615C>T (p.Ala205=) http://identifiers.org/clinvar/259766 ^@ NM_005445.3(SMC3):c.1410-30_1410-25delATTAAA http://identifiers.org/clinvar/260466 ^@ NM_014915.2(ANKRD26):c.3658G>C (p.Val1220Leu) http://identifiers.org/clinvar/259165 ^@ NM_003793.3(CTSF):c.1166-10C>T http://identifiers.org/clinvar/260166 ^@ NM_012062.4(DNM1L):c.251-7T>C http://identifiers.org/clinvar/258226 ^@ NM_001844.4(COL2A1):c.2302-32T>C http://identifiers.org/clinvar/257326 ^@ NM_001065.3(TNFRSF1A):c.36A>G (p.Pro12=) http://identifiers.org/clinvar/262255 ^@ NM_052867.2(NALCN):c.2305C>T (p.His769Tyr) http://identifiers.org/clinvar/258076 ^@ NM_001376.4(DYNC1H1):c.9469-20A>T http://identifiers.org/clinvar/260316 ^@ NM_014080.4(DUOX2):c.1693+10G>A http://identifiers.org/clinvar/334952 ^@ NM_152383.4(DIS3L2):c.*103A>G http://identifiers.org/clinvar/335702 ^@ NM_004304.4(ALK):c.2430C>T (p.Ser810=) http://identifiers.org/clinvar/332911 ^@ NM_133378.4(TTN):c.20425G>A (p.Gly6809Ser) http://identifiers.org/clinvar/332761 ^@ NM_133378.4(TTN):c.73819G>A (p.Gly24607Ser) http://identifiers.org/clinvar/333211 ^@ NM_000534.4(PMS1):c.1975G>T (p.Ala659Ser) http://identifiers.org/clinvar/335402 ^@ NM_000183.2(HADHB):c.135G>A (p.Thr45=) http://identifiers.org/clinvar/333061 ^@ NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) http://identifiers.org/clinvar/333161 ^@ NM_014585.5(SLC40A1):c.1654G>A (p.Ala552Thr) http://identifiers.org/clinvar/335602 ^@ NM_001029883.2(C2orf71):c.*1525C>T http://identifiers.org/clinvar/333311 ^@ NM_002156.4(HSPD1):c.429T>C (p.Gly143=) http://identifiers.org/clinvar/333711 ^@ NM_001204.6(BMPR2):c.*5522C>T http://identifiers.org/clinvar/336559 ^@ NM_001135659.2(NRXN1):c.-217C>G http://identifiers.org/clinvar/335852 ^@ NM_014946.3(SPAST):c.*815_*828delCTTCCTGATGGAATinsAAC http://identifiers.org/clinvar/333461 ^@ NM_032977.3(CASP10):c.*1366T>C http://identifiers.org/clinvar/333861 ^@ NM_014929.3(FASTKD2):c.*3896A>C http://identifiers.org/clinvar/336759 ^@ NM_015910.5(WDPCP):c.2159-13T>C http://identifiers.org/clinvar/336002 ^@ NM_005633.3(SOS1):c.*855G>A http://identifiers.org/clinvar/336809 ^@ NM_002056.3(GFPT1):c.*3987_*3989delATT http://identifiers.org/clinvar/333961 ^@ NM_015040.3(PIKFYVE):c.*1923A>G http://identifiers.org/clinvar/337009 ^@ NM_015120.4(ALMS1):c.1329A>G (p.Glu443=) http://identifiers.org/clinvar/336659 ^@ NM_001114636.1(FANCL):c.-44C>T http://identifiers.org/clinvar/334012 ^@ NM_001875.4(CPS1):c.295C>A (p.Pro99Thr) http://identifiers.org/clinvar/336859 ^@ NM_002056.3(GFPT1):c.*800G>T http://identifiers.org/clinvar/336959 ^@ NM_003494.3(DYSF):c.2355+14G>A http://identifiers.org/clinvar/342349 ^@ NM_016247.3(IMPG2):c.1495C>A (p.Pro499Thr) http://identifiers.org/clinvar/337059 ^@ NM_212552.2(BOLA3):c.-8G>A http://identifiers.org/clinvar/342399 ^@ NM_000551.3(VHL):c.-125C>A http://identifiers.org/clinvar/334652 ^@ NM_000092.4(COL4A4):c.*3940T>C http://identifiers.org/clinvar/334702 ^@ NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) http://identifiers.org/clinvar/337109 ^@ NM_006302.2(MOGS):c.1517G>A (p.Arg506Gln) http://identifiers.org/clinvar/334902 ^@ NM_004509.3(SP110):c.1568T>C (p.Met523Thr) http://identifiers.org/clinvar/342799 ^@ NM_000388.3(CASR):c.1665T>C (p.Ile555=) http://identifiers.org/clinvar/335052 ^@ NM_002242.4(KCNJ13):c.*94A>C http://identifiers.org/clinvar/335302 ^@ NM_000030.2(AGXT):c.1071+13G>A http://identifiers.org/clinvar/335002 ^@ NM_005199.4(CHRNG):c.367G>A (p.Glu123Lys) http://identifiers.org/clinvar/335652 ^@ NM_001029883.2(C2orf71):c.1968G>T (p.Arg656Ser) http://identifiers.org/clinvar/335252 ^@ NM_004321.7(KIF1A):c.*35C>A http://identifiers.org/clinvar/335352 ^@ NM_001035256.2(POMC):c.*63C>T http://identifiers.org/clinvar/342849 ^@ NM_053025.3(MYLK):c.*612C>A http://identifiers.org/clinvar/335802 ^@ NM_000348.3(SRD5A2):c.*1290C>G http://identifiers.org/clinvar/335452 ^@ NM_194248.2(OTOF):c.1227G>C (p.Gly409=) http://identifiers.org/clinvar/335552 ^@ NM_144631.5(ZNF513):c.1568G>A (p.Arg523Gln) http://identifiers.org/clinvar/343988 ^@ NM_020800.2(IFT80):c.-243G>A http://identifiers.org/clinvar/344038 ^@ NM_001041.3(SI):c.2737-8delC http://identifiers.org/clinvar/336052 ^@ NM_022436.2(ABCG5):c.570G>A (p.Leu190=) http://identifiers.org/clinvar/335752 ^@ NM_000379.3(XDH):c.*475A>C http://identifiers.org/clinvar/354704 ^@ NM_001491.2(GCNT2):c.442G>A (p.Ala148Thr) http://identifiers.org/clinvar/357594 ^@ NM_001723.5(DST):c.3027+7A>T http://identifiers.org/clinvar/357644 ^@ NM_183227.2(RAB23):c.301T>G (p.Ser101Ala) http://identifiers.org/clinvar/354954 ^@ NM_014028.3(OSTM1):c.*1883T>C http://identifiers.org/clinvar/355155 ^@ NM_000165.4(GJA1):c.-161G>T http://identifiers.org/clinvar/351257 ^@ NM_005219.4(DIAPH1):c.*1625_*1627delTCC http://identifiers.org/clinvar/351457 ^@ NM_054027.4(ANKH):c.*2107A>G http://identifiers.org/clinvar/351557 ^@ NM_054027.4(ANKH):c.313+12G>A http://identifiers.org/clinvar/355555 ^@ NM_000416.2(IFNGR1):c.862-4A>G http://identifiers.org/clinvar/351507 ^@ NM_003122.4(SPINK1):c.*77delT http://identifiers.org/clinvar/351357 ^@ NM_001018077.1(NR3C1):c.*409delC http://identifiers.org/clinvar/351607 ^@ NM_024577.3(SH3TC2):c.*18635C>T http://identifiers.org/clinvar/351707 ^@ NM_024577.3(SH3TC2):c.*10573T>C http://identifiers.org/clinvar/351807 ^@ NM_024577.3(SH3TC2):c.*5576C>T http://identifiers.org/clinvar/359183 ^@ NM_014141.5(CNTNAP2):c.1257G>A (p.Leu419=) http://identifiers.org/clinvar/351757 ^@ NM_024577.3(SH3TC2):c.*8277G>A http://identifiers.org/clinvar/359333 ^@ NM_016203.3(PRKAG2):c.*612G>A http://identifiers.org/clinvar/352165 ^@ NM_005211.3(CSF1R):c.726C>T (p.Thr242=) http://identifiers.org/clinvar/359533 ^@ NM_001101426.3(ISPD):c.*2251G>A http://identifiers.org/clinvar/359583 ^@ NM_001101426.3(ISPD):c.1251+4G>A http://identifiers.org/clinvar/359933 ^@ NM_018947.5(CYCS):c.*950A>G http://identifiers.org/clinvar/356694 ^@ NM_000409.4(GUCA1A):c.*227C>A http://identifiers.org/clinvar/352415 ^@ NM_000337.5(SGCD):c.*5990T>A http://identifiers.org/clinvar/352615 ^@ NM_000806.5(GABRA1):c.*1512G>A http://identifiers.org/clinvar/352715 ^@ NM_012188.4(FOXI1):c.*397A>T http://identifiers.org/clinvar/352515 ^@ NM_001099287.1(NIPAL4):c.730G>T (p.Val244Phe) http://identifiers.org/clinvar/352665 ^@ NM_000816.3(GABRG2):c.*1636T>C http://identifiers.org/clinvar/356994 ^@ NM_006502.2(POLH):c.*4414dupG http://identifiers.org/clinvar/360483 ^@ NM_005228.4(EGFR):c.*926G>A http://identifiers.org/clinvar/352765 ^@ NM_001017995.2(SH3PXD2B):c.*2032G>A http://identifiers.org/clinvar/352815 ^@ NM_001017995.2(SH3PXD2B):c.1126A>G (p.Ile376Val) http://identifiers.org/clinvar/357144 ^@ NM_001024630.3(RUNX2):c.*3345G>A http://identifiers.org/clinvar/352865 ^@ NM_002449.4(MSX2):c.*1249T>C http://identifiers.org/clinvar/352965 ^@ NM_003052.4(SLC34A1):c.774T>C (p.His258=) http://identifiers.org/clinvar/357344 ^@ NM_003221.3(TFAP2B):c.*3716A>G http://identifiers.org/clinvar/357394 ^@ NM_138694.3(PKHD1):c.*934G>T http://identifiers.org/clinvar/357444 ^@ NM_138694.3(PKHD1):c.2079G>T (p.Leu693=) http://identifiers.org/clinvar/353115 ^@ NM_014244.4(ADAMTS2):c.2028C>T (p.Asp676=) http://identifiers.org/clinvar/357494 ^@ NM_018100.3(EFHC1):c.*527C>T http://identifiers.org/clinvar/353215 ^@ NM_016180.4(SLC45A2):c.1089C>T (p.Tyr363=) http://identifiers.org/clinvar/357694 ^@ NM_001142800.1(EYS):c.7056-15T>A http://identifiers.org/clinvar/361372 ^@ NM_178857.5(RP1L1):c.1540G>A (p.Gly514Ser) http://identifiers.org/clinvar/299824 ^@ NM_021252.4(RAB18):c.*150C>T http://identifiers.org/clinvar/300024 ^@ NM_000124.3(ERCC6):c.*643G>A http://identifiers.org/clinvar/300074 ^@ NM_000124.3(ERCC6):c.2022T>A (p.Ser674=) http://identifiers.org/clinvar/306578 ^@ NM_030962.3(SBF2):c.5004C>T (p.Thr1668=) http://identifiers.org/clinvar/306778 ^@ NM_024312.4(GNPTAB):c.*890_*891dupAG http://identifiers.org/clinvar/306928 ^@ NM_018082.5(POLR3B):c.423T>C (p.Arg141=) http://identifiers.org/clinvar/300324 ^@ NM_001083116.1(PRF1):c.*96G>A http://identifiers.org/clinvar/307378 ^@ NM_005996.3(TBX3):c.61C>T (p.Leu21=) http://identifiers.org/clinvar/307428 ^@ NM_014365.2(HSPB8):c.*684G>A http://identifiers.org/clinvar/300724 ^@ NM_016065.3(MRPS16):c.16A>C (p.Thr6Pro) http://identifiers.org/clinvar/300774 ^@ NM_002658.4(PLAU):c.*688C>T http://identifiers.org/clinvar/300974 ^@ NM_002247.3(KCNMA1):c.31A>G (p.Ser11Gly) http://identifiers.org/clinvar/298335 ^@ NM_000195.4(HPS1):c.2058G>C (p.Gln686His) http://identifiers.org/clinvar/298385 ^@ NM_004376.6(COX15):c.*2312dupT http://identifiers.org/clinvar/365681 ^@ NM_000787.3(DBH):c.*222C>T http://identifiers.org/clinvar/309417 ^@ NM_014191.3(SCN8A):c.*4077T>C http://identifiers.org/clinvar/366132 ^@ NM_144966.5(FREM1):c.3708G>A (p.Thr1236=) http://identifiers.org/clinvar/309567 ^@ NM_000424.3(KRT5):c.381C>T (p.Phe127=) http://identifiers.org/clinvar/365781 ^@ NM_000093.4(COL5A1):c.*1807G>C http://identifiers.org/clinvar/302063 ^@ NM_001080463.1(DYNC2H1):c.7540+14G>A http://identifiers.org/clinvar/366082 ^@ NM_144966.5(FREM1):c.*1073G>A http://identifiers.org/clinvar/366182 ^@ NM_144966.5(FREM1):c.-135G>C http://identifiers.org/clinvar/310367 ^@ NM_000365.5(TPI1):c.*178G>A http://identifiers.org/clinvar/310417 ^@ NM_001131025.1(PEX5):c.498A>G (p.Gln166=) http://identifiers.org/clinvar/310467 ^@ NM_024685.3(BBS10):c.*1250A>G http://identifiers.org/clinvar/312911 ^@ NM_000257.3(MYH7):c.1749C>T (p.Ala583=) http://identifiers.org/clinvar/314700 ^@ NM_000369.2(TSHR):c.*116G>A http://identifiers.org/clinvar/322335 ^@ NM_080669.5(SLC46A1):c.*4884G>T http://identifiers.org/clinvar/314750 ^@ NM_000153.3(GALC):c.1162-4dupT http://identifiers.org/clinvar/322385 ^@ NM_080669.5(SLC46A1):c.*1392C>A http://identifiers.org/clinvar/322685 ^@ NM_145068.3(TRPV3):c.*2808C>T http://identifiers.org/clinvar/314950 ^@ NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) http://identifiers.org/clinvar/341249 ^@ NM_000343.3(SLC5A1):c.1129+7T>G http://identifiers.org/clinvar/341349 ^@ NM_000362.4(TIMP3):c.*87T>C http://identifiers.org/clinvar/322735 ^@ NM_145068.3(TRPV3):c.*656G>T http://identifiers.org/clinvar/315000 ^@ NM_000295.4(SERPINA1):c.*1294T>C http://identifiers.org/clinvar/315050 ^@ NM_177438.2(DICER1):c.*3473T>C http://identifiers.org/clinvar/341599 ^@ NM_153609.3(TMPRSS6):c.606A>C (p.Leu202=) http://identifiers.org/clinvar/341699 ^@ NM_022098.3(XPNPEP3):c.*1452A>G http://identifiers.org/clinvar/323085 ^@ NM_002274.3(KRT13):c.869G>A (p.Arg290Gln) http://identifiers.org/clinvar/342199 ^@ NM_000487.5(ARSA):c.*1476G>A http://identifiers.org/clinvar/313900 ^@ NM_015346.3(ZFYVE26):c.4066T>G (p.Cys1356Gly) http://identifiers.org/clinvar/367750 ^@ NM_002294.2(LAMP2):c.*3249T>C http://identifiers.org/clinvar/314050 ^@ NM_031427.3(DNAL1):c.*1968C>T http://identifiers.org/clinvar/367900 ^@ NM_194277.2(FRMD7):c.*665A>T http://identifiers.org/clinvar/314250 ^@ NM_000428.2(LTBP2):c.*1302G>C http://identifiers.org/clinvar/368100 ^@ NM_001042351.2(G6PD):c.771-11T>C http://identifiers.org/clinvar/314300 ^@ NM_000428.2(LTBP2):c.2283C>T (p.Ser761=) http://identifiers.org/clinvar/368400 ^@ NM_007137.3(ZNF81):c.*65A>G http://identifiers.org/clinvar/314450 ^@ NM_003239.4(TGFB3):c.517-6C>G http://identifiers.org/clinvar/314500 ^@ NM_004452.3(ESRRB):c.*690C>T http://identifiers.org/clinvar/324281 ^@ NM_018488.3(TBX4):c.*383G>T http://identifiers.org/clinvar/314550 ^@ NM_013382.5(POMT2):c.*119T>C http://identifiers.org/clinvar/324433 ^@ NM_000789.3(ACE):c.*689T>C http://identifiers.org/clinvar/324683 ^@ NM_031220.3(PITPNM3):c.*3239C>T http://identifiers.org/clinvar/324633 ^@ NM_004655.3(AXIN2):c.*794C>A http://identifiers.org/clinvar/324783 ^@ NM_002734.4(PRKAR1A):c.678C>T (p.Ile226=) http://identifiers.org/clinvar/325033 ^@ NM_173477.4(USH1G):c.*1656T>C http://identifiers.org/clinvar/317450 ^@ NM_000875.4(IGF1R):c.1828+11C>T http://identifiers.org/clinvar/317500 ^@ NM_000875.4(IGF1R):c.*1268delA http://identifiers.org/clinvar/325283 ^@ NM_199242.2(UNC13D):c.-229C>G http://identifiers.org/clinvar/317800 ^@ NM_032520.4(GNPTG):c.-60C>T http://identifiers.org/clinvar/317850 ^@ NM_005236.2(ERCC4):c.*1897A>C http://identifiers.org/clinvar/318102 ^@ NM_001143979.1(NDE1):c.948-4894G>A http://identifiers.org/clinvar/372431 ^@ NM_000433.3(NCF2):c.257+1G>A http://identifiers.org/clinvar/373800 ^@ NM_001103.3(ACTN2):c.1984C>T (p.Arg662Trp) http://identifiers.org/clinvar/372950 ^@ NM_001165963.1(SCN1A):c.1090A>C (p.Ser364Arg) http://identifiers.org/clinvar/373650 ^@ NM_024582.4(FAT4):c.3328G>A (p.Glu1110Lys) http://identifiers.org/clinvar/372540 ^@ NM_003722.4(TP63):c.1727T>C (p.Ile576Thr) http://identifiers.org/clinvar/373350 ^@ NM_001059.2(TACR3):c.548+2T>C http://identifiers.org/clinvar/372794 ^@ NM_001457.3(FLNB):c.572C>T (p.Pro191Leu) http://identifiers.org/clinvar/373300 ^@ NM_021942.5(TRAPPC11):c.2407C>T (p.Gln803Ter) http://identifiers.org/clinvar/372744 ^@ NM_000165.4(GJA1):c.605G>A (p.Arg202His) http://identifiers.org/clinvar/373100 ^@ NM_016628.4(WAC):c.1556+1G>A http://identifiers.org/clinvar/373250 ^@ NM_003476.4(CSRP3):c.282G>T (p.Gln94His) http://identifiers.org/clinvar/372487 ^@ NM_000448.2(RAG1):c.527G>T (p.Cys176Phe) http://identifiers.org/clinvar/373700 ^@ NM_014254.2(TMEM5):c.940A>G (p.Ser314Gly) http://identifiers.org/clinvar/373200 ^@ NM_013279.3(MYRF):c.2309+1G>A http://identifiers.org/clinvar/372590 ^@ NM_002834.4(PTPN11):c.178G>C (p.Gly60Arg) http://identifiers.org/clinvar/373600 ^@ NM_007129.3(ZIC2):c.1076-5C>T http://identifiers.org/clinvar/372694 ^@ NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) http://identifiers.org/clinvar/372641 ^@ NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) http://identifiers.org/clinvar/373500 ^@ NM_000339.2(SLC12A3):c.2186G>A (p.Gly729Asp) http://identifiers.org/clinvar/373450 ^@ NM_001410.2(MEGF8):c.3810G>A (p.Thr1270=) http://identifiers.org/clinvar/373750 ^@ NM_001396.3(DYRK1A):c.982C>T (p.Arg328Trp) http://identifiers.org/clinvar/373000 ^@ NM_006767.3(LZTR1):c.2378T>A (p.Leu793Gln) http://identifiers.org/clinvar/373050 ^@ NM_004187.3(KDM5C):c.3404dupT (p.Ser1136Valfs) http://identifiers.org/clinvar/373550 ^@ NM_001145408.1(NONO):c.230_231delTT (p.Phe77Cysfs) http://identifiers.org/clinvar/373400 ^@ NM_002049.3(GATA1):c.919C>T (p.Arg307Cys) http://identifiers.org/clinvar/373150 ^@ NM_001111125.2(IQSEC2):c.503G>T (p.Arg168Leu) http://identifiers.org/clinvar/373850 ^@ NG_005905.2:g.139641_147792dup8152 http://identifiers.org/clinvar/374153 ^@ NM_000388.3(CASR):c.2449G>A (p.Val817Ile) http://identifiers.org/clinvar/374203 ^@ NM_000138.4(FBN1):c.478T>C (p.Cys160Arg) http://identifiers.org/clinvar/374257 ^@ NM_005933.3(KMT2A):c.2318dupC (p.Ser774Valfs) http://identifiers.org/clinvar/374327 ^@ NM_000834.3(GRIN2B):c.1821G>C (p.Trp607Cys) http://identifiers.org/clinvar/375458 ^@ NM_000168.5(GLI3):c.2000G>T (p.Arg667Leu) http://identifiers.org/clinvar/375521 ^@ NM_003165.3(STXBP1):c.1408G>T (p.Glu470Ter) http://identifiers.org/clinvar/375580 ^@ NM_001733.4(C1R):c.1113C>G (p.Cys371Trp) http://identifiers.org/clinvar/375638 ^@ NM_001198903.1(YY1AP1):c.724C>T (p.Gln242Ter) http://identifiers.org/clinvar/375708 ^@ NM_001199107.1(TBC1D24):c.404C>T (p.Pro135Leu) http://identifiers.org/clinvar/375783 ^@ NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr) http://identifiers.org/clinvar/375833 ^@ NM_000527.4(LDLR):c.2125A>G (p.Arg709Gly) http://identifiers.org/clinvar/375886 ^@ NM_004304.4(ALK):c.3673G>A (p.Asp1225Asn) http://identifiers.org/clinvar/375936 ^@ NM_000125.3(ESR1):c.1604C>A (p.Pro535His) http://identifiers.org/clinvar/387540 ^@ NM_001135659.2(NRXN1):c.*13A>C http://identifiers.org/clinvar/382208 ^@ NM_020919.3(ALS2):c.2638C>G (p.Leu880Val) http://identifiers.org/clinvar/383761 ^@ NM_015120.4(ALMS1):c.8484G>T (p.Arg2828Ser) http://identifiers.org/clinvar/391179 ^@ NM_001039550.1(DNAJB2):c.759G>A (p.Glu253=) http://identifiers.org/clinvar/391379 ^@ NM_144736.4(NDUFAF7):c.1023A>C (p.Arg341=) http://identifiers.org/clinvar/379663 ^@ NM_003722.4(TP63):c.325-18471A>G http://identifiers.org/clinvar/390029 ^@ NM_052859.3(RFT1):c.657C>T (p.Ser219=) http://identifiers.org/clinvar/388490 ^@ NM_015141.3(GPD1L):c.959+7C>A http://identifiers.org/clinvar/388740 ^@ NM_198056.2(SCN5A):c.5811C>T (p.Ser1937=) http://identifiers.org/clinvar/382007 ^@ NM_198056.2(SCN5A):c.4438-19T>C http://identifiers.org/clinvar/388540 ^@ NM_000481.3(AMT):c.203C>T (p.Ser68Leu) http://identifiers.org/clinvar/380114 ^@ NM_004742.2(MAGI1):c.1123A>G (p.Ile375Val) http://identifiers.org/clinvar/385551 ^@ NM_001182.4(ALDH7A1):c.1490-7T>C http://identifiers.org/clinvar/385901 ^@ NM_005506.3(SCARB2):c.424-5C>T http://identifiers.org/clinvar/382559 ^@ NM_000440.2(PDE6A):c.750A>G (p.Glu250=) http://identifiers.org/clinvar/379813 ^@ NM_001182.4(ALDH7A1):c.1415+7C>T http://identifiers.org/clinvar/390629 ^@ NM_003042.3(SLC6A1):c.187G>A (p.Gly63Ser) http://identifiers.org/clinvar/387940 ^@ NM_001999.3(FBN2):c.2160C>T (p.Pro720=) http://identifiers.org/clinvar/389979 ^@ NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) http://identifiers.org/clinvar/385001 ^@ NM_002887.3(RARS):c.479-5A>G http://identifiers.org/clinvar/379063 ^@ NM_198056.2(SCN5A):c.2381T>C (p.Met794Thr) http://identifiers.org/clinvar/383610 ^@ NM_000083.2(CLCN1):c.-16C>G http://identifiers.org/clinvar/384011 ^@ NM_152778.2(MFSD8):c.154+19T>C http://identifiers.org/clinvar/388140 ^@ NM_147127.4(EVC2):c.3094C>T (p.Leu1032=) http://identifiers.org/clinvar/392218 ^@ NM_001851.4(COL9A1):c.2106G>A (p.Lys702=) http://identifiers.org/clinvar/385851 ^@ NM_000535.6(PMS2):c.353+3G>A http://identifiers.org/clinvar/385351 ^@ NM_000038.5(APC):c.135+17T>G http://identifiers.org/clinvar/382609 ^@ NM_153033.4(KCTD7):c.606T>C (p.Tyr202=) http://identifiers.org/clinvar/378863 ^@ NM_005431.1(XRCC2):c.-48G>A http://identifiers.org/clinvar/390879 ^@ NM_023110.2(FGFR1):c.2331C>G (p.Ser777=) http://identifiers.org/clinvar/388690 ^@ NM_001458.4(FLNC):c.4952-10C>T http://identifiers.org/clinvar/385201 ^@ NM_002485.4(NBN):c.2122C>T (p.Leu708=) http://identifiers.org/clinvar/384951 ^@ NM_153704.5(TMEM67):c.652-16A>G http://identifiers.org/clinvar/383861 ^@ NM_001130438.2(SPTAN1):c.3235C>G (p.Leu1079Val) http://identifiers.org/clinvar/383710 ^@ NM_002538.3(OCLN):c.754A>G (p.Met252Val) http://identifiers.org/clinvar/380064 ^@ NM_013391.3(DMGDH):c.1589C>G (p.Ala530Gly) http://identifiers.org/clinvar/390079 ^@ NM_003172.3(SURF1):c.516-8T>C http://identifiers.org/clinvar/385501 ^@ NM_005654.5(NR2F1):c.153G>A (p.Thr51=) http://identifiers.org/clinvar/383510 ^@ NM_000093.4(COL5A1):c.3201A>G (p.Pro1067=) http://identifiers.org/clinvar/388840 ^@ NM_014846.3(WASHC5):c.418-9T>G http://identifiers.org/clinvar/384801 ^@ NM_002290.4(LAMA4):c.3675+8C>T http://identifiers.org/clinvar/389829 ^@ NM_017617.4(NOTCH1):c.3643+8C>G http://identifiers.org/clinvar/390529 ^@ NM_003640.4(IKBKAP):c.2025C>T (p.Ala675=) http://identifiers.org/clinvar/379163 ^@ NM_007171.3(POMT1):c.1509C>T (p.His503=) http://identifiers.org/clinvar/379613 ^@ NM_003165.3(STXBP1):c.1250-20C>T http://identifiers.org/clinvar/386001 ^@ NM_004408.3(DNM1):c.552T>C (p.Ser184=) http://identifiers.org/clinvar/385801 ^@ NM_021830.4(TWNK):c.1593-6G>A http://identifiers.org/clinvar/133043 ^@ NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) http://identifiers.org/clinvar/133093 ^@ NM_000540.2(RYR1):c.14817C>A (p.Asp4939Glu) http://identifiers.org/clinvar/133143 ^@ NM_000540.2(RYR1):c.5182T>C (p.Ser1728Pro) http://identifiers.org/clinvar/133193 ^@ NM_000540.2(RYR1):c.7282G>A (p.Ala2428Thr) http://identifiers.org/clinvar/134736 ^@ NM_170606.2(KMT2C):c.1365A>G (p.Ile455Met) http://identifiers.org/clinvar/134786 ^@ NM_170606.2(KMT2C):c.11173A>C (p.Thr3725Pro) http://identifiers.org/clinvar/134837 ^@ NM_005373.2(MPL):c.1063A>G (p.Lys355Glu) http://identifiers.org/clinvar/134890 ^@ NM_000267.3(NF1):c.7774C>G (p.Pro2592Ala) http://identifiers.org/clinvar/134940 ^@ NM_017617.4(NOTCH1):c.5011G>A (p.Val1671Ile) http://identifiers.org/clinvar/134990 ^@ NM_002520.6(NPM1):c.474_476delTGC (p.Ala160del) http://identifiers.org/clinvar/135040 ^@ NM_181523.2(PIK3R1):c.526A>G (p.Met176Val) http://identifiers.org/clinvar/135091 ^@ NM_001198.3(PRDM1):c.2312G>A (p.Gly771Asp) http://identifiers.org/clinvar/135142 ^@ NM_004260.3(RECQL4):c.2705G>A (p.Arg902Gln) http://identifiers.org/clinvar/135223 ^@ NM_014159.6(SETD2):c.310C>A (p.Pro104Thr) http://identifiers.org/clinvar/135274 ^@ NM_003745.1(SOCS1):c.398G>C (p.Gly133Ala) http://identifiers.org/clinvar/135324 ^@ NM_001127208.2(TET2):c.2604T>G (p.Phe868Leu) http://identifiers.org/clinvar/135374 ^@ NM_000548.4(TSC2):c.2348C>T (p.Thr783Ile) http://identifiers.org/clinvar/135425 ^@ NM_000553.4(WRN):c.2950T>A (p.Leu984Ile) http://identifiers.org/clinvar/135475 ^@ NM_004628.4(XPC):c.142C>T (p.Leu48Phe) http://identifiers.org/clinvar/135525 ^@ NM_000400.3(ERCC2):c.1119-25dupC http://identifiers.org/clinvar/135576 ^@ NM_005631.4(SMO):c.2057C>T (p.Ala686Val) http://identifiers.org/clinvar/135651 ^@ NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) http://identifiers.org/clinvar/135710 ^@ NM_000038.5(APC):c.597G>A (p.Ala199=) http://identifiers.org/clinvar/135762 ^@ NM_000051.3(ATM):c.574C>G (p.His192Asp) http://identifiers.org/clinvar/135820 ^@ NM_000059.3(BRCA2):c.9390A>G (p.Glu3130=) http://identifiers.org/clinvar/135870 ^@ NM_000264.3(PTCH1):c.1308C>T (p.Asp436=) http://identifiers.org/clinvar/135920 ^@ NM_000455.4(STK11):c.434A>G (p.Glu145Gly) http://identifiers.org/clinvar/135971 ^@ NM_001127500.2(MET):c.467C>T (p.Ser156Leu) http://identifiers.org/clinvar/136022 ^@ NM_002354.2(EPCAM):c.466C>T (p.Pro156Ser) http://identifiers.org/clinvar/136073 ^@ NM_005359.5(SMAD4):c.1606C>T (p.Leu536=) http://identifiers.org/clinvar/136123 ^@ NM_020975.4(RET):c.693C>T (p.Arg231=) http://identifiers.org/clinvar/136173 ^@ NM_001159287.1(TPI1):c.143dupG (p.Asn49Lysfs) http://identifiers.org/clinvar/136234 ^@ NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) http://identifiers.org/clinvar/185325 ^@ NM_001042492.2(NF1):c.7708A>G (p.Arg2570Gly) http://identifiers.org/clinvar/186175 ^@ NM_002878.3(RAD51D):c.879G>A (p.Ala293=) http://identifiers.org/clinvar/183785 ^@ NM_002878.3(RAD51D):c.234C>T (p.Ser78=) http://identifiers.org/clinvar/186375 ^@ NM_007294.3(BRCA1):c.3411G>A (p.Met1137Ile) http://identifiers.org/clinvar/186225 ^@ NM_007294.3(BRCA1):c.3323_3324delTA (p.Ile1108Lysfs) http://identifiers.org/clinvar/185425 ^@ NM_007294.3(BRCA1):c.699A>G (p.Val233=) http://identifiers.org/clinvar/185275 ^@ NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) http://identifiers.org/clinvar/186325 ^@ NM_032043.2(BRIP1):c.1989C>A (p.Thr663=) http://identifiers.org/clinvar/186025 ^@ NM_032043.2(BRIP1):c.1114C>A (p.Leu372Ile) http://identifiers.org/clinvar/185675 ^@ NM_032043.2(BRIP1):c.1053A>G (p.Pro351=) http://identifiers.org/clinvar/183835 ^@ NM_000546.5(TP53):c.234A>G (p.Ala78=) http://identifiers.org/clinvar/185375 ^@ NM_005359.5(SMAD4):c.104T>C (p.Phe35Ser) http://identifiers.org/clinvar/184286 ^@ NM_000455.4(STK11):c.1128G>A (p.Glu376=) http://identifiers.org/clinvar/184136 ^@ NM_007194.3(CHEK2):c.1377T>A (p.Ala459=) http://identifiers.org/clinvar/185775 ^@ NM_007194.3(CHEK2):c.1118A>G (p.Lys373Arg) http://identifiers.org/clinvar/185975 ^@ NM_007194.3(CHEK2):c.1091T>C (p.Ile364Thr) http://identifiers.org/clinvar/187770 ^@ NM_001010898.3(SLC6A17):c.1898C>G (p.Pro633Arg) http://identifiers.org/clinvar/187827 ^@ NM_000314.6(PTEN):c.545T>C (p.Leu182Ser) http://identifiers.org/clinvar/187899 ^@ NM_005957.4(MTHFR):c.1724T>G (p.Val575Gly) http://identifiers.org/clinvar/187949 ^@ NM_004409.4(DMPK):c.*224_*226[261] http://identifiers.org/clinvar/187999 ^@ NM_004409.4(DMPK):c.*224_*226[536] http://identifiers.org/clinvar/188049 ^@ NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del http://identifiers.org/clinvar/188254 ^@ NM_000038.5(APC):c.1588G>A (p.Val530Met) http://identifiers.org/clinvar/188202 ^@ NM_001127500.2(MET):c.2417T>C (p.Val806Ala) http://identifiers.org/clinvar/188100 ^@ NM_002047.3(GARS):c.803C>T (p.Thr268Ile) http://identifiers.org/clinvar/188307 ^@ NM_000059.3(BRCA2):c.2389A>G (p.Lys797Glu) http://identifiers.org/clinvar/188360 ^@ NM_000267.3(NF1):c.6310C>G (p.Leu2104Val) http://identifiers.org/clinvar/188151 ^@ NM_000546.5(TP53):c.1087A>G (p.Arg363Gly) http://identifiers.org/clinvar/188469 ^@ NM_004415.3(DSP):c.5363A>G (p.Gln1788Arg) http://identifiers.org/clinvar/188569 ^@ NM_000256.3(MYBPC3):c.2435A>G (p.Lys812Arg) http://identifiers.org/clinvar/188519 ^@ NM_000256.3(MYBPC3):c.88G>A (p.Glu30Lys) http://identifiers.org/clinvar/188619 ^@ NM_000257.3(MYH7):c.2922+82C>T http://identifiers.org/clinvar/188419 ^@ NM_007294.3(BRCA1):c.5260G>A (p.Glu1754Lys) http://identifiers.org/clinvar/188669 ^@ NM_000363.4(TNNI3):c.12-23C>G http://identifiers.org/clinvar/226514 ^@ NM_000739.2(CHRM2):c.1197T>C (p.Thr399=) http://identifiers.org/clinvar/226614 ^@ NM_203447.3(DOCK8):c.3840+3A>G http://identifiers.org/clinvar/229186 ^@ NM_001134363.2(RBM20):c.1529T>C (p.Phe510Ser) http://identifiers.org/clinvar/228986 ^@ NM_017433.4(MYO3A):c.585+3C>T http://identifiers.org/clinvar/229136 ^@ NM_033056.3(PCDH15):c.1985A>G (p.Asn662Ser) http://identifiers.org/clinvar/229036 ^@ NM_032578.3(MYPN):c.3763G>A (p.Val1255Met) http://identifiers.org/clinvar/228486 ^@ NM_022124.5(CDH23):c.1752+6G>A http://identifiers.org/clinvar/227215 ^@ NM_022124.5(CDH23):c.10033A>C (p.Met3345Leu) http://identifiers.org/clinvar/227065 ^@ NM_001098668.3(SFTPA2):c.148G>C (p.Val50Leu) http://identifiers.org/clinvar/229086 ^@ NM_001277269.1(OTOG):c.2312C>T (p.Ala771Val) http://identifiers.org/clinvar/228286 ^@ NM_004572.3(PKP2):c.1034+1G>T http://identifiers.org/clinvar/228886 ^@ NM_002471.3(MYH6):c.1336G>A (p.Ala446Thr) http://identifiers.org/clinvar/228686 ^@ NM_000138.4(FBN1):c.6314-15G>A http://identifiers.org/clinvar/229286 ^@ NM_001199107.1(TBC1D24):c.*2G>A http://identifiers.org/clinvar/228836 ^@ NM_144612.6(LOXHD1):c.6338T>C (p.Phe2113Ser) http://identifiers.org/clinvar/226714 ^@ NM_144612.6(LOXHD1):c.2825_2827delAGA (p.Lys942del) http://identifiers.org/clinvar/226464 ^@ NM_212550.4(BLOC1S3):c.339G>A (p.Leu113=) http://identifiers.org/clinvar/228786 ^@ NM_002294.2(LAMP2):c.602T>C (p.Ile201Thr) http://identifiers.org/clinvar/228586 ^@ NM_004006.2(DMD):c.3805C>T (p.His1269Tyr) http://identifiers.org/clinvar/228336 ^@ NM_001399.4(EDA):c.319_322dupGGGC (p.Gln108Argfs) http://identifiers.org/clinvar/227165 ^@ NM_001614.3(ACTG1):c.18C>T (p.Ala6=) http://identifiers.org/clinvar/234386 ^@ NM_001012331.1(NTRK1):c.16C>T (p.Arg6Trp) http://identifiers.org/clinvar/234704 ^@ NM_001999.3(FBN2):c.1724-2A>G http://identifiers.org/clinvar/234604 ^@ NM_000535.6(PMS2):c.2445+1G>T http://identifiers.org/clinvar/234503 ^@ NM_000059.3(BRCA2):c.5225A>T (p.Asn1742Ile) http://identifiers.org/clinvar/234654 ^@ NM_004360.4(CDH1):c.1712-2A>C http://identifiers.org/clinvar/234554 ^@ NM_004360.4(CDH1):c.1679C>G (p.Thr560Arg) http://identifiers.org/clinvar/234280 ^@ NM_032043.2(BRIP1):c.1473+13_1473+14delTT http://identifiers.org/clinvar/234452 ^@ NM_004655.3(AXIN2):c.1987T>C (p.Trp663Arg) http://identifiers.org/clinvar/234332 ^@ NM_014646.2(LPIN2):c.1274C>T (p.Ser425Leu) http://identifiers.org/clinvar/234804 ^@ NM_001130823.2(DNMT1):c.3031C>T (p.Arg1011Trp) http://identifiers.org/clinvar/234170 ^@ NM_007194.3(CHEK2):c.1522C>G (p.Leu508Val) http://identifiers.org/clinvar/231977 ^@ NM_000143.3(FH):c.1389A>G (p.Ile463Met) http://identifiers.org/clinvar/231877 ^@ NM_001128425.1(MUTYH):c.1518+1G>T http://identifiers.org/clinvar/233870 ^@ NM_001128425.1(MUTYH):c.1394C>T (p.Pro465Leu) http://identifiers.org/clinvar/229888 ^@ NM_000465.3(BARD1):c.2189A>C (p.Gln730Pro) http://identifiers.org/clinvar/233367 ^@ NM_000465.3(BARD1):c.994A>C (p.Ile332Leu) http://identifiers.org/clinvar/233920 ^@ NM_000465.3(BARD1):c.347A>G (p.His116Arg) http://identifiers.org/clinvar/233317 ^@ NM_000465.3(BARD1):c.107A>C (p.His36Pro) http://identifiers.org/clinvar/229838 ^@ NM_000251.2(MSH2):c.-1C>T http://identifiers.org/clinvar/232917 ^@ NM_000179.2(MSH6):c.2983G>A (p.Glu995Lys) http://identifiers.org/clinvar/231177 ^@ NM_000249.3(MLH1):c.2080_2081delGAinsTC (p.Glu694Ser) http://identifiers.org/clinvar/230927 ^@ NM_000038.5(APC):c.266C>G (p.Ser89Ter) http://identifiers.org/clinvar/233970 ^@ NM_000038.5(APC):c.933+1G>A http://identifiers.org/clinvar/264369 ^@ NM_024422.4(DSC2):c.2202G>A (p.Gln734=) http://identifiers.org/clinvar/264269 ^@ NM_006440.4(TXNRD2):c.1341T>G (p.Tyr447Ter) http://identifiers.org/clinvar/266610 ^@ NM_000059.3(BRCA2):c.110C>A (p.Ser37Ter) http://identifiers.org/clinvar/267110 ^@ NM_000059.3(BRCA2):c.884delT (p.Val295Aspfs) http://identifiers.org/clinvar/266660 ^@ NM_000059.3(BRCA2):c.1792delA (p.Thr598Hisfs) http://identifiers.org/clinvar/266710 ^@ NM_000059.3(BRCA2):c.2553delC (p.Phe851Leufs) http://identifiers.org/clinvar/266760 ^@ NM_000059.3(BRCA2):c.3596_3599delACTG (p.Asp1199Valfs) http://identifiers.org/clinvar/266810 ^@ NM_000059.3(BRCA2):c.4404dupT (p.Asp1469Terfs) http://identifiers.org/clinvar/266860 ^@ NM_000059.3(BRCA2):c.5213delC (p.Thr1738Ilefs) http://identifiers.org/clinvar/266910 ^@ NM_000059.3(BRCA2):c.5975C>G (p.Ser1992Ter) http://identifiers.org/clinvar/266960 ^@ NM_000059.3(BRCA2):c.6536_6537insA (p.Leu2180Phefs) http://identifiers.org/clinvar/267010 ^@ NM_000059.3(BRCA2):c.7434dupA (p.Asp2479Argfs) http://identifiers.org/clinvar/267060 ^@ NM_000059.3(BRCA2):c.8201delC (p.Pro2734Leufs) http://identifiers.org/clinvar/267160 ^@ NM_000059.3(BRCA2):c.9418_9430delGCTGGAGATTTTT (p.Ala3140Leufs) http://identifiers.org/clinvar/266560 ^@ NM_007294.3(BRCA1):c.5536delC (p.Gln1846Serfs) http://identifiers.org/clinvar/266510 ^@ NM_007294.3(BRCA1):c.5019delC (p.His1673Glnfs) http://identifiers.org/clinvar/266460 ^@ NM_007294.3(BRCA1):c.4218delG (p.Lys1406Asnfs) http://identifiers.org/clinvar/266410 ^@ NM_007294.3(BRCA1):c.3840_3850delTCAGGAACATC (p.Gln1281Profs) http://identifiers.org/clinvar/266360 ^@ NM_007294.3(BRCA1):c.3360dupT (p.Asn1121Terfs) http://identifiers.org/clinvar/266310 ^@ NM_007294.3(BRCA1):c.2861_2864delTATC (p.Leu954Hisfs) http://identifiers.org/clinvar/266260 ^@ NM_007294.3(BRCA1):c.2411delA (p.Gln804Argfs) http://identifiers.org/clinvar/266160 ^@ NM_007294.3(BRCA1):c.1354delG (p.Val452Terfs) http://identifiers.org/clinvar/266210 ^@ NM_007294.3(BRCA1):c.202dupA (p.Ile68Asnfs) http://identifiers.org/clinvar/267230 ^@ NM_015247.2(CYLD):c.968_977delCAAGAGGTGT (p.Ser323Leufs) http://identifiers.org/clinvar/267291 ^@ NM_002317.6(LOX):c.839G>T (p.Ser280Ile) http://identifiers.org/clinvar/267377 ^@ c.7327C>T http://identifiers.org/clinvar/267431 ^@ NM_017780.3(CHD7):c.4837_4838delCT (p.Leu1613Alafs) http://identifiers.org/clinvar/267517 ^@ NM_007294.3(BRCA1):c.301+1G>C http://identifiers.org/clinvar/290889 ^@ NM_001044.4(SLC6A3):c.1676C>T (p.Ala559Val) http://identifiers.org/clinvar/290939 ^@ NM_001165928.3(DAG1):c.2169A>T (p.Pro723=) http://identifiers.org/clinvar/290989 ^@ NM_000744.6(CHRNA4):c.1053C>T (p.Ile351=) http://identifiers.org/clinvar/291039 ^@ NM_025114.3(CEP290):c.3409C>T (p.Arg1137Trp) http://identifiers.org/clinvar/291089 ^@ NM_002633.2(PGM1):c.1600-3C>T http://identifiers.org/clinvar/291139 ^@ NM_000152.4(GAA):c.2222A>T (p.Asp741Val) http://identifiers.org/clinvar/291190 ^@ NM_000214.2(JAG1):c.2604T>C (p.Ser868=) http://identifiers.org/clinvar/291240 ^@ NM_000425.4(L1CAM):c.1249G>A (p.Ala417Thr) http://identifiers.org/clinvar/291290 ^@ NM_003742.2(ABCB11):c.2811A>T (p.Gly937=) http://identifiers.org/clinvar/291405 ^@ NM_001918.3(DBT):c.*5328C>G http://identifiers.org/clinvar/291455 ^@ NM_001918.3(DBT):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/291505 ^@ NM_001854.3(COL11A1):c.4222G>A (p.Gly1408Ser) http://identifiers.org/clinvar/291555 ^@ NM_001854.3(COL11A1):c.-75C>T http://identifiers.org/clinvar/291668 ^@ NM_015074.3(KIF1B):c.*4742C>A http://identifiers.org/clinvar/291618 ^@ NM_015074.3(KIF1B):c.*2042C>T http://identifiers.org/clinvar/291768 ^@ NM_007375.3(TARDBP):c.*2740G>A http://identifiers.org/clinvar/292407 ^@ NM_014874.3(MFN2):c.*1546G>A http://identifiers.org/clinvar/292557 ^@ NM_019032.5(ADAMTSL4):c.2591G>A (p.Arg864Gln) http://identifiers.org/clinvar/292657 ^@ NM_152263.3(TPM3):c.*2719G>A http://identifiers.org/clinvar/292707 ^@ NM_006118.3(HAX1):c.593C>T (p.Pro198Leu) http://identifiers.org/clinvar/292757 ^@ NM_001111.4(ADAR):c.3645C>G (p.Pro1215=) http://identifiers.org/clinvar/292507 ^@ NM_004698.2(PRPF3):c.*42C>T http://identifiers.org/clinvar/292807 ^@ NM_000298.5(PKLR):c.1365C>T (p.Thr455=) http://identifiers.org/clinvar/292857 ^@ NM_022367.3(SEMA4A):c.2167C>T (p.Arg723Cys) http://identifiers.org/clinvar/293207 ^@ NM_002857.3(PEX19):c.*1335G>T http://identifiers.org/clinvar/292357 ^@ NM_000302.3(PLOD1):c.*308C>G http://identifiers.org/clinvar/293407 ^@ NM_004431.4(EPHA2):c.2898G>A (p.Lys966=) http://identifiers.org/clinvar/292457 ^@ NM_005266.6(GJA5):c.-67G>A http://identifiers.org/clinvar/293007 ^@ NM_003126.2(SPTA1):c.2672G>A (p.Arg891Gln) http://identifiers.org/clinvar/293357 ^@ NM_003001.3(SDHC):c.*1784G>C http://identifiers.org/clinvar/293157 ^@ NM_000702.3(ATP1A2):c.*932T>C http://identifiers.org/clinvar/292607 ^@ NM_000449.3(RFX5):c.*224T>C http://identifiers.org/clinvar/293607 ^@ NM_000130.4(F5):c.3442T>C (p.Ser1148Pro) http://identifiers.org/clinvar/293457 ^@ NM_005149.2(TBX19):c.315C>T (p.Asn105=) http://identifiers.org/clinvar/293507 ^@ NM_006996.2(SLC19A2):c.*1814G>A http://identifiers.org/clinvar/293657 ^@ NM_152281.2(GORAB):c.635G>A (p.Arg212Gln) http://identifiers.org/clinvar/292907 ^@ NM_007272.2(CTRC):c.82G>A (p.Ala28Thr) http://identifiers.org/clinvar/293707 ^@ NM_000261.1(MYOC):c.*71G>A http://identifiers.org/clinvar/292957 ^@ NM_003126.2(SPTA1):c.6121-11delT http://identifiers.org/clinvar/293757 ^@ NM_000639.2(FASLG):c.*817A>G http://identifiers.org/clinvar/293107 ^@ NM_002241.4(KCNJ10):c.*991A>G http://identifiers.org/clinvar/293057 ^@ NM_003126.2(SPTA1):c.224T>C (p.Ile75Thr) http://identifiers.org/clinvar/293257 ^@ NM_000309.3(PPOX):c.1062T>C (p.Pro354=) http://identifiers.org/clinvar/293307 ^@ NM_000530.7(MPZ):c.*624C>T http://identifiers.org/clinvar/293557 ^@ NM_000130.4(F5):c.*838T>C http://identifiers.org/clinvar/344188 ^@ NM_198407.2(GHSR):c.*813A>G http://identifiers.org/clinvar/335902 ^@ NM_001011.3(RPS7):c.39C>T (p.Gly13=) http://identifiers.org/clinvar/335952 ^@ NM_000104.3(CYP1B1):c.1168C>T (p.Arg390Cys) http://identifiers.org/clinvar/344438 ^@ NM_003722.4(TP63):c.*2719_*2720delTT http://identifiers.org/clinvar/336409 ^@ NM_002354.2(EPCAM):c.131G>A (p.Arg44His) http://identifiers.org/clinvar/336459 ^@ NM_000233.3(LHCGR):c.1875A>T (p.Ile625=) http://identifiers.org/clinvar/336609 ^@ NM_001039348.2(EFEMP1):c.*962C>A http://identifiers.org/clinvar/343938 ^@ NM_024996.5(GFM1):c.*6C>T http://identifiers.org/clinvar/344088 ^@ NM_000055.3(BCHE):c.1736A>G (p.Asn579Ser) http://identifiers.org/clinvar/336509 ^@ NM_001135659.2(NRXN1):c.*2377T>C http://identifiers.org/clinvar/344488 ^@ NM_015560.2(OPA1):c.*56C>T http://identifiers.org/clinvar/344588 ^@ NM_000461.4(THRB):c.*2637G>A http://identifiers.org/clinvar/336909 ^@ NM_001004311.3(FIGLA):c.422G>C (p.Ser141Thr) http://identifiers.org/clinvar/344738 ^@ NM_015141.3(GPD1L):c.*406C>G http://identifiers.org/clinvar/344788 ^@ NM_000404.3(GLB1):c.1480-8C>G http://identifiers.org/clinvar/344838 ^@ NM_006371.4(CRTAP):c.*1467G>A http://identifiers.org/clinvar/345927 ^@ NM_000387.5(SLC25A20):c.*782T>C http://identifiers.org/clinvar/346327 ^@ NM_001457.3(FLNB):c.2908G>A (p.Gly970Arg) http://identifiers.org/clinvar/346477 ^@ NM_198859.3(PRICKLE2):c.636G>A (p.Gly212=) http://identifiers.org/clinvar/346527 ^@ NM_000248.3(MITF):c.*1893C>T http://identifiers.org/clinvar/346627 ^@ NM_032682.5(FOXP1):c.*567delA http://identifiers.org/clinvar/342299 ^@ NM_016247.3(IMPG2):c.*1737T>C http://identifiers.org/clinvar/346877 ^@ NM_000313.3(PROS1):c.*155T>A http://identifiers.org/clinvar/342649 ^@ NM_020754.3(ARHGAP31):c.1701G>A (p.Pro567=) http://identifiers.org/clinvar/345877 ^@ NM_000094.3(COL7A1):c.1370C>T (p.Pro457Leu) http://identifiers.org/clinvar/342699 ^@ NM_020754.3(ARHGAP31):c.*1391_*1394delCTCA http://identifiers.org/clinvar/342749 ^@ NM_000187.3(HGD):c.372C>T (p.Asp124=) http://identifiers.org/clinvar/347377 ^@ NM_003619.3(PRSS12):c.*830C>T http://identifiers.org/clinvar/347527 ^@ NM_152778.2(MFSD8):c.*1515T>A http://identifiers.org/clinvar/347577 ^@ NM_031296.2(RAB33B):c.*701G>T http://identifiers.org/clinvar/347727 ^@ NM_000901.4(NR3C2):c.1713T>C (p.Ser571=) http://identifiers.org/clinvar/346577 ^@ NM_032682.5(FOXP1):c.*2942A>G http://identifiers.org/clinvar/346677 ^@ NM_002942.4(ROBO2):c.471C>T (p.Pro157=) http://identifiers.org/clinvar/343688 ^@ NM_032383.4(HPS3):c.-70T>C http://identifiers.org/clinvar/343788 ^@ NM_000096.3(CP):c.164A>G (p.Tyr55Cys) http://identifiers.org/clinvar/343838 ^@ NM_005677.3(COLQ):c.*421G>A http://identifiers.org/clinvar/348416 ^@ NM_133330.2(NSD2):c.-43G>A http://identifiers.org/clinvar/346927 ^@ NM_182896.2(ARL13B):c.*1619G>A http://identifiers.org/clinvar/362132 ^@ NM_000497.3(CYP11B1):c.*634G>A http://identifiers.org/clinvar/354154 ^@ NM_003719.3(PDE8B):c.672G>A (p.Ala224=) http://identifiers.org/clinvar/362182 ^@ NM_000498.3(CYP11B2):c.*566C>T http://identifiers.org/clinvar/354304 ^@ NM_000046.3(ARSB):c.1502G>A (p.Arg501His) http://identifiers.org/clinvar/354354 ^@ NM_002454.2(MTRR):c.687C>T (p.Thr229=) http://identifiers.org/clinvar/362382 ^@ NM_177924.4(ASAH1):c.361G>A (p.Ala121Thr) http://identifiers.org/clinvar/354204 ^@ NM_003719.3(PDE8B):c.*1007delG http://identifiers.org/clinvar/354504 ^@ NM_002890.2(RASA1):c.209A>G (p.Glu70Gly) http://identifiers.org/clinvar/354554 ^@ NM_002397.4(MEF2C):c.*3298T>C http://identifiers.org/clinvar/354604 ^@ NM_002397.4(MEF2C):c.-528_-526dupCCT http://identifiers.org/clinvar/359133 ^@ NM_001080413.3(NOBOX):c.1900C>A (p.Pro634Thr) http://identifiers.org/clinvar/354654 ^@ NM_000439.4(PCSK1):c.-21G>A http://identifiers.org/clinvar/354854 ^@ NM_007214.4(SEC63):c.*1932_*1937delCTACCA http://identifiers.org/clinvar/354904 ^@ NM_007214.4(SEC63):c.1441-5C>T http://identifiers.org/clinvar/354804 ^@ NM_001242957.2(MAK):c.405T>G (p.Gly135=) http://identifiers.org/clinvar/359683 ^@ NM_001277115.1(DNAH11):c.12174C>T (p.Ala4058=) http://identifiers.org/clinvar/360233 ^@ NM_000168.5(GLI3):c.3015C>T (p.Ala1005=) http://identifiers.org/clinvar/356794 ^@ NM_000287.3(PEX6):c.2736G>A (p.Ala912=) http://identifiers.org/clinvar/356644 ^@ NM_005943.5(MOCS1):c.*544C>G http://identifiers.org/clinvar/365731 ^@ NM_000093.4(COL5A1):c.4795G>C (p.Glu1599Gln) http://identifiers.org/clinvar/361526 ^@ NM_014112.4(TRPS1):c.*4741G>T http://identifiers.org/clinvar/361582 ^@ NM_014112.4(TRPS1):c.*1980_*1981insG http://identifiers.org/clinvar/356844 ^@ NM_014780.4(CUL7):c.1846A>G (p.Ser616Gly) http://identifiers.org/clinvar/361682 ^@ NM_002546.3(TNFRSF11B):c.*682T>C http://identifiers.org/clinvar/356894 ^@ NM_006502.2(POLH):c.-98A>C http://identifiers.org/clinvar/357094 ^@ NM_001024630.3(RUNX2):c.887C>T (p.Pro296Leu) http://identifiers.org/clinvar/356944 ^@ NM_006502.2(POLH):c.*1615C>T http://identifiers.org/clinvar/361782 ^@ NM_004519.3(KCNQ3):c.*6174A>G http://identifiers.org/clinvar/357044 ^@ NM_020745.3(AARS2):c.*555_*556insATAAA http://identifiers.org/clinvar/361882 ^@ NM_004519.3(KCNQ3):c.145G>A (p.Asp49Asn) http://identifiers.org/clinvar/366232 ^@ NM_003070.4(SMARCA2):c.4207G>A (p.Val1403Met) http://identifiers.org/clinvar/366282 ^@ NM_002451.3(MTAP):c.*1621_*1622delAA http://identifiers.org/clinvar/311161 ^@ NM_001846.3(COL4A2):c.3396C>T (p.Phe1132=) http://identifiers.org/clinvar/311261 ^@ NM_000131.4(F7):c.*1275A>G http://identifiers.org/clinvar/311411 ^@ NM_002010.2(FGF9):c.-335delT http://identifiers.org/clinvar/367121 ^@ NM_004972.3(JAK2):c.337C>G (p.Leu113Val) http://identifiers.org/clinvar/311911 ^@ NM_001127217.2(SMAD9):c.-223_-221dupCCG http://identifiers.org/clinvar/367171 ^@ NM_000170.2(GLDC):c.2988G>C (p.Gln996His) http://identifiers.org/clinvar/311961 ^@ NM_207361.5(FREM2):c.2978A>G (p.Glu993Gly) http://identifiers.org/clinvar/312011 ^@ NM_207361.5(FREM2):c.6669A>G (p.Gln2223=) http://identifiers.org/clinvar/312061 ^@ NM_207361.5(FREM2):c.*1731A>G http://identifiers.org/clinvar/367350 ^@ NM_033305.2(VPS13A):c.1020A>G (p.Glu340=) http://identifiers.org/clinvar/312161 ^@ NM_020751.2(COG6):c.*1196A>T http://identifiers.org/clinvar/367400 ^@ NM_033305.2(VPS13A):c.6379-12T>G http://identifiers.org/clinvar/298535 ^@ NM_022039.3(FBXW4):c.716A>G (p.His239Arg) http://identifiers.org/clinvar/367450 ^@ NM_058179.3(PSAT1):c.-12G>C http://identifiers.org/clinvar/367550 ^@ NM_006415.3(SPTLC1):c.452G>T (p.Arg151Leu) http://identifiers.org/clinvar/312411 ^@ NM_001004127.2(ALG11):c.256T>G (p.Leu86Val) http://identifiers.org/clinvar/298885 ^@ NM_007373.3(SHOC2):c.*1487G>T http://identifiers.org/clinvar/298935 ^@ NM_004132.4(HABP2):c.*788G>A http://identifiers.org/clinvar/298985 ^@ NM_000141.4(FGFR2):c.*674G>T http://identifiers.org/clinvar/298835 ^@ NM_001134363.2(RBM20):c.*1768C>T http://identifiers.org/clinvar/314200 ^@ NM_182894.2(VSX2):c.863G>A (p.Arg288Gln) http://identifiers.org/clinvar/299874 ^@ NM_021252.4(RAB18):c.*3584C>T http://identifiers.org/clinvar/299974 ^@ NM_002900.2(RBP3):c.1919T>C (p.Val640Ala) http://identifiers.org/clinvar/314800 ^@ NM_198309.3(TTC8):c.769-11C>T http://identifiers.org/clinvar/305864 ^@ NM_002180.2(IGHMBP2):c.2883G>A (p.Leu961=) http://identifiers.org/clinvar/300374 ^@ NM_018344.5(SLC29A3):c.*124C>T http://identifiers.org/clinvar/300424 ^@ NM_022124.5(CDH23):c.3369+12G>A http://identifiers.org/clinvar/300474 ^@ NM_022124.5(CDH23):c.9616C>T (p.Arg3206Cys) http://identifiers.org/clinvar/300524 ^@ NM_002778.3(PSAP):c.570G>T (p.Gln190His) http://identifiers.org/clinvar/300574 ^@ NM_004273.4(CHST3):c.*346C>T http://identifiers.org/clinvar/306428 ^@ NM_001814.5(CTSC):c.509A>G (p.Tyr170Cys) http://identifiers.org/clinvar/300124 ^@ NM_000242.2(MBL2):c.*1691G>A http://identifiers.org/clinvar/300224 ^@ NM_000417.2(IL2RA):c.*1461T>C http://identifiers.org/clinvar/306628 ^@ NM_139319.2(SLC17A8):c.658G>A (p.Ala220Thr) http://identifiers.org/clinvar/317650 ^@ NM_000875.4(IGF1R):c.*6770A>T http://identifiers.org/clinvar/311211 ^@ NM_001846.3(COL4A2):c.*650T>C http://identifiers.org/clinvar/309867 ^@ NM_012064.3(MIP):c.*1103C>T http://identifiers.org/clinvar/309917 ^@ NM_005379.3(MYO1A):c.935_937delAAG (p.Glu312del) http://identifiers.org/clinvar/309967 ^@ NM_000075.3(CDK4):c.*689C>T http://identifiers.org/clinvar/318000 ^@ NM_014714.3(IFT140):c.3693G>A (p.Thr1231=) http://identifiers.org/clinvar/310017 ^@ NM_001172696.1(TSFM):c.751G>T (p.Val251Leu) http://identifiers.org/clinvar/311561 ^@ NM_014363.5(SACS):c.1608G>A (p.Pro536=) http://identifiers.org/clinvar/311711 ^@ NM_004795.3(KL):c.*26T>G http://identifiers.org/clinvar/311761 ^@ NM_015087.4(SPG20):c.*446T>C http://identifiers.org/clinvar/310317 ^@ NM_021150.3(GRIP1):c.-165A>C http://identifiers.org/clinvar/330522 ^@ NM_006702.4(PNPLA6):c.1245+8T>C http://identifiers.org/clinvar/306678 ^@ NM_018979.3(WNK1):c.*643G>A http://identifiers.org/clinvar/312261 ^@ NM_003850.2(SUCLA2):c.*220C>T http://identifiers.org/clinvar/337898 ^@ NM_198994.2(TGM6):c.-36T>C http://identifiers.org/clinvar/312361 ^@ NM_000053.3(ATP7B):c.*1014A>G http://identifiers.org/clinvar/311061 ^@ NM_001845.5(COL4A1):c.1858G>C (p.Ala620Pro) http://identifiers.org/clinvar/338148 ^@ NM_006892.3(DNMT3B):c.-224C>A http://identifiers.org/clinvar/319742 ^@ NM_004530.5(MMP2):c.-114G>A http://identifiers.org/clinvar/338448 ^@ NM_000457.4(HNF4A):c.*906A>C http://identifiers.org/clinvar/311311 ^@ NM_021954.3(GJA3):c.*1176A>C http://identifiers.org/clinvar/311361 ^@ NM_004004.5(GJB2):c.*931C>T http://identifiers.org/clinvar/311461 ^@ NM_002010.2(FGF9):c.*1847G>T http://identifiers.org/clinvar/311511 ^@ NM_014363.5(SACS):c.10576A>G (p.Ile3526Val) http://identifiers.org/clinvar/320242 ^@ NM_001793.5(CDH3):c.1593G>A (p.Thr531=) http://identifiers.org/clinvar/311611 ^@ NM_018451.4(CENPJ):c.3068G>A (p.Arg1023His) http://identifiers.org/clinvar/320342 ^@ NM_001605.2(AARS):c.1410C>T (p.Ile470=) http://identifiers.org/clinvar/311661 ^@ NM_000059.3(BRCA2):c.963A>G (p.Gln321=) http://identifiers.org/clinvar/311811 ^@ NM_001127217.2(SMAD9):c.*3756_*3759delTTCT http://identifiers.org/clinvar/320892 ^@ NM_001127464.2(ZNF469):c.2810A>T (p.Asp937Val) http://identifiers.org/clinvar/312111 ^@ NM_207361.5(FREM2):c.*5627delT http://identifiers.org/clinvar/314100 ^@ NM_031427.3(DNAL1):c.*5287A>G http://identifiers.org/clinvar/312461 ^@ NM_000115.4(EDNRB):c.*1260G>A http://identifiers.org/clinvar/367800 ^@ NM_001167.3(XIAP):c.*579G>A http://identifiers.org/clinvar/367850 ^@ NM_001167.3(XIAP):c.*5368C>T http://identifiers.org/clinvar/367950 ^@ NM_004840.2(ARHGEF6):c.-232G>A http://identifiers.org/clinvar/368050 ^@ NM_000033.3(ABCD1):c.1810G>A (p.Val604Ile) http://identifiers.org/clinvar/328933 ^@ NM_001083961.1(WDR62):c.4312T>A (p.Leu1438Met) http://identifiers.org/clinvar/368150 ^@ NM_014332.2(SMPX):c.*45A>T http://identifiers.org/clinvar/368200 ^@ NM_004006.2(DMD):c.*2234_*2238dupAAGTT http://identifiers.org/clinvar/329033 ^@ NM_000540.2(RYR1):c.4763C>T (p.Pro1588Leu) http://identifiers.org/clinvar/368350 ^@ NM_153380.3(ZNF41):c.*1033A>G http://identifiers.org/clinvar/329283 ^@ NM_181882.2(PRX):c.597C>T (p.Ala199=) http://identifiers.org/clinvar/330172 ^@ NM_206828.3(NLRP7):c.1137G>A (p.Lys379=) http://identifiers.org/clinvar/330372 ^@ NM_000208.3(INSR):c.*3010delC http://identifiers.org/clinvar/337798 ^@ NM_006363.4(SEC23B):c.1809A>G (p.Ser603=) http://identifiers.org/clinvar/337948 ^@ NM_014588.5(VSX1):c.*496A>G http://identifiers.org/clinvar/329083 ^@ NM_000540.2(RYR1):c.8715G>C (p.Leu2905=) http://identifiers.org/clinvar/329133 ^@ NM_000540.2(RYR1):c.13998+3G>A http://identifiers.org/clinvar/338398 ^@ NM_005461.4(MAFB):c.*410G>A http://identifiers.org/clinvar/330022 ^@ NM_144687.3(NLRP12):c.2309A>C (p.Lys770Thr) http://identifiers.org/clinvar/330072 ^@ NM_002739.4(PRKCG):c.2059A>G (p.Ser687Gly) http://identifiers.org/clinvar/330272 ^@ NM_000064.3(C3):c.4850+12C>A http://identifiers.org/clinvar/330322 ^@ NM_000064.3(C3):c.1653G>T (p.Val551=) http://identifiers.org/clinvar/330572 ^@ NM_030957.3(ADAMTS10):c.*238dupC http://identifiers.org/clinvar/338248 ^@ NM_032034.3(SLC4A11):c.1215C>T (p.Ile405=) http://identifiers.org/clinvar/338198 ^@ NM_006892.3(DNMT3B):c.*942A>T http://identifiers.org/clinvar/338348 ^@ NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) http://identifiers.org/clinvar/338548 ^@ NM_004994.2(MMP9):c.649+3G>T http://identifiers.org/clinvar/341199 ^@ NM_000355.3(TCN2):c.581-8A>C http://identifiers.org/clinvar/341749 ^@ NM_022098.3(XPNPEP3):c.*4702G>A http://identifiers.org/clinvar/341799 ^@ NM_001429.3(EP300):c.2787A>G (p.Ala929=) http://identifiers.org/clinvar/341849 ^@ NM_001429.3(EP300):c.*815A>C http://identifiers.org/clinvar/341999 ^@ NM_018006.4(TRMU):c.-117G>C http://identifiers.org/clinvar/390929 ^@ NM_000093.4(COL5A1):c.3528+19G>T http://identifiers.org/clinvar/385751 ^@ NM_020822.2(KCNT1):c.1983C>T (p.Pro661=) http://identifiers.org/clinvar/389529 ^@ NM_001003800.1(BICD2):c.1842A>G (p.Pro614=) http://identifiers.org/clinvar/390729 ^@ NM_000722.3(CACNA2D1):c.1899G>A (p.Ser633=) http://identifiers.org/clinvar/385651 ^@ NM_007078.2(LDB3):c.1815C>T (p.Phe605=) http://identifiers.org/clinvar/381556 ^@ NM_004329.2(BMPR1A):c.334-11T>C http://identifiers.org/clinvar/385401 ^@ NM_007103.3(NDUFV1):c.701-8C>T http://identifiers.org/clinvar/385951 ^@ NM_000051.3(ATM):c.497-14T>A http://identifiers.org/clinvar/382508 ^@ NM_005472.4(KCNE3):c.-30G>A http://identifiers.org/clinvar/382358 ^@ NM_002834.4(PTPN11):c.853+17C>T http://identifiers.org/clinvar/385301 ^@ NM_004329.2(BMPR1A):c.675+19T>C http://identifiers.org/clinvar/385151 ^@ NM_001885.2(CRYAB):c.*16T>C http://identifiers.org/clinvar/392318 ^@ NM_020297.3(ABCC9):c.3097-15T>A http://identifiers.org/clinvar/386051 ^@ NM_000218.2(KCNQ1):c.1935C>T (p.Gly645=) http://identifiers.org/clinvar/379563 ^@ NM_014191.3(SCN8A):c.1779G>C (p.Glu593Asp) http://identifiers.org/clinvar/382659 ^@ NM_021625.4(TRPV4):c.871C>T (p.Leu291=) http://identifiers.org/clinvar/383811 ^@ NM_002180.2(IGHMBP2):c.273G>C (p.Leu91=) http://identifiers.org/clinvar/382709 ^@ NM_006231.3(POLE):c.4006-15C>T http://identifiers.org/clinvar/379363 ^@ NM_014191.3(SCN8A):c.474G>A (p.Ser158=) http://identifiers.org/clinvar/379864 ^@ NM_018109.3(MTPAP):c.585G>A (p.Lys195=) http://identifiers.org/clinvar/383660 ^@ NM_001478.4(B4GALNT1):c.1455C>G (p.Ser485=) http://identifiers.org/clinvar/390429 ^@ NM_001846.3(COL4A2):c.1898G>A (p.Gly633Asp) http://identifiers.org/clinvar/386101 ^@ NM_000059.3(BRCA2):c.4083G>A (p.Gln1361=) http://identifiers.org/clinvar/383560 ^@ NM_000059.3(BRCA2):c.7805+10G>T http://identifiers.org/clinvar/392268 ^@ NM_000059.3(BRCA2):c.8355T>C (p.Pro2785=) http://identifiers.org/clinvar/387740 ^@ NM_020751.2(COG6):c.1233A>G (p.Lys411=) http://identifiers.org/clinvar/387990 ^@ NM_001278503.1(STT3A):c.149+20C>T http://identifiers.org/clinvar/380014 ^@ NM_001278503.1(STT3A):c.672C>G (p.Leu224=) http://identifiers.org/clinvar/390829 ^@ NM_000218.2(KCNQ1):c.999T>G (p.Ser333=) http://identifiers.org/clinvar/388790 ^@ NM_031418.3(ANO3):c.704A>G (p.Tyr235Cys) http://identifiers.org/clinvar/379713 ^@ NM_000548.4(TSC2):c.1946+7G>A http://identifiers.org/clinvar/388440 ^@ NM_007347.4(AP4E1):c.-47C>A http://identifiers.org/clinvar/381456 ^@ NM_024678.5(NARS2):c.1095C>T (p.Phe365=) http://identifiers.org/clinvar/378763 ^@ NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) http://identifiers.org/clinvar/385051 ^@ NM_001271.3(CHD2):c.1371A>G (p.Glu457=) http://identifiers.org/clinvar/382157 ^@ NM_001171.5(ABCC6):c.1112T>C (p.Met371Thr) http://identifiers.org/clinvar/381857 ^@ NM_000303.2(PMM2):c.*19G>A http://identifiers.org/clinvar/382107 ^@ NM_000137.2(FAH):c.961-17G>A http://identifiers.org/clinvar/387640 ^@ NM_000137.2(FAH):c.1026G>A (p.Pro342=) http://identifiers.org/clinvar/383961 ^@ NM_006231.3(POLE):c.3417C>T (p.Ser1139=) http://identifiers.org/clinvar/47466 ^@ NM_133378.4(TTN):c.79959T>C (p.Ser26653=) http://identifiers.org/clinvar/47516 ^@ NM_133378.4(TTN):c.84180A>T (p.Arg28060Ser) http://identifiers.org/clinvar/47566 ^@ NM_133378.4(TTN):c.88454T>C (p.Ile29485Thr) http://identifiers.org/clinvar/47616 ^@ NM_133378.4(TTN):c.91636T>C (p.Leu30546=) http://identifiers.org/clinvar/47666 ^@ NM_133378.4(TTN):c.96488A>G (p.Tyr32163Cys) http://identifiers.org/clinvar/47716 ^@ NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) http://identifiers.org/clinvar/47766 ^@ NM_133379.4(TTN):c.13980C>G (p.His4660Gln) http://identifiers.org/clinvar/47816 ^@ NM_001256850.1(TTN):c.11166C>T (p.Pro3722=) http://identifiers.org/clinvar/47866 ^@ NM_138691.2(TMC1):c.2044G>C (p.Glu682Gln) http://identifiers.org/clinvar/47916 ^@ NM_144612.6(LOXHD1):c.1087G>A (p.Val363Ile) http://identifiers.org/clinvar/47966 ^@ NM_152594.2(SPRED1):c.177T>C (p.Phe59=) http://identifiers.org/clinvar/48018 ^@ NM_153676.3(USH1C):c.497-4G>A http://identifiers.org/clinvar/48068 ^@ NM_170707.3(LMNA):c.485T>C (p.Leu162Pro) http://identifiers.org/clinvar/48168 ^@ NM_194248.2(OTOF):c.1424A>G (p.Glu475Gly) http://identifiers.org/clinvar/40 ^@ NM_001083961.1(WDR62):c.4205_4208delTGCC (p.Val1402Glyfs) http://identifiers.org/clinvar/50 ^@ NM_001199107.1(TBC1D24):c.751T>C (p.Phe251Leu) http://identifiers.org/clinvar/170 ^@ NM_000274.3(OAT):c.1058G>A (p.Gly353Asp) http://identifiers.org/clinvar/234 ^@ NM_000398.6(CYB5R3):c.382T>C (p.Ser128Pro) http://identifiers.org/clinvar/257 ^@ NM_004628.4(XPC):c.2033+2T>G http://identifiers.org/clinvar/409 ^@ NM_002111.6(HTT):c.53_55[(41_?)] (p.Gln40(41_?)) http://identifiers.org/clinvar/450 ^@ NM_133459.3(CCBE1):c.520T>C (p.Cys174Arg) http://identifiers.org/clinvar/609 ^@ NM_000277.1(PAH):c.662A>G (p.Glu221Gly) http://identifiers.org/clinvar/618 ^@ NM_000277.1(PAH):c.916A>G (p.Ile306Val) http://identifiers.org/clinvar/650 ^@ NM_000130.4(F5):c.2401C>T (p.Gln801Ter) http://identifiers.org/clinvar/691 ^@ NM_000147.4(FUCA1):c.857A>G (p.Gln286Arg) http://identifiers.org/clinvar/924 ^@ NM_000404.3(GLB1):c.1369C>T (p.Arg457Ter) http://identifiers.org/clinvar/971 ^@ FANCI, 2T-C http://identifiers.org/clinvar/980 ^@ ARMS2, 443-BP DEL/54-BP INS http://identifiers.org/clinvar/994 ^@ XPA, 5-BP DEL http://identifiers.org/clinvar/1088 ^@ FLVCR2, 6-BP DEL, NT329 http://identifiers.org/clinvar/1560 ^@ NM_000263.3(NAGLU):c.2021G>A (p.Arg674His) http://identifiers.org/clinvar/1605 ^@ RSPO1, IVS5DS, G-A, +1 http://identifiers.org/clinvar/1655 ^@ NM_014043.3(CHMP2B):c.493C>T (p.Gln165Ter) http://identifiers.org/clinvar/1747 ^@ GIF, 1-BP DEL 161A http://identifiers.org/clinvar/1797 ^@ NM_000102.3(CYP17A1):c.1216T>C (p.Trp406Arg) http://identifiers.org/clinvar/1841 ^@ NM_206898.1(MRAP):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/1887 ^@ NM_000255.3(MUT):c.322C>T (p.Arg108Cys) http://identifiers.org/clinvar/1931 ^@ NM_020166.4(MCCC1):c.1594G>C (p.Asp532His) http://identifiers.org/clinvar/1977 ^@ NM_000022.3(ADA):c.221G>T (p.Gly74Val) http://identifiers.org/clinvar/2020 ^@ NM_001003841.2(SLC6A19):c.718C>T (p.Arg240Ter) http://identifiers.org/clinvar/2066 ^@ NM_018100.3(EFHC1):c.757G>T (p.Asp253Tyr) http://identifiers.org/clinvar/2111 ^@ NG_013368.1:g.5604_20276del14673 http://identifiers.org/clinvar/2157 ^@ NM_017929.5(PEX26):c.134T>C (p.Leu45Pro) http://identifiers.org/clinvar/2203 ^@ NM_018668.4(VPS33B):c.89T>C (p.Leu30Pro) http://identifiers.org/clinvar/2249 ^@ NM_000265.5(NCF1):c.75_76delGT (p.Tyr26Hisfs) http://identifiers.org/clinvar/2386 ^@ ARG1, 4-BP DEL http://identifiers.org/clinvar/2430 ^@ NM_153006.2(NAGS):c.1307dupT (p.Thr439Hisfs) http://identifiers.org/clinvar/2476 ^@ NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) http://identifiers.org/clinvar/2521 ^@ NM_144599.4(NIPA1):c.316G>C (p.Gly106Arg) http://identifiers.org/clinvar/2615 ^@ NM_000049.2(ASPA):c.746A>T (p.Asp249Val) http://identifiers.org/clinvar/2661 ^@ NM_198428.2(BBS9):c.442+1G>C http://identifiers.org/clinvar/10147 ^@ NM_000132.3(F8):c.6955C>T (p.Pro2319Ser) http://identifiers.org/clinvar/10192 ^@ NM_000132.3(F8):c.902G>A (p.Arg301His) http://identifiers.org/clinvar/10237 ^@ NM_000132.3(F8):c.1892A>G (p.Asn631Ser) http://identifiers.org/clinvar/10282 ^@ NM_000132.3(F8):c.5533A>C (p.Thr1845Pro) http://identifiers.org/clinvar/10327 ^@ NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) http://identifiers.org/clinvar/10374 ^@ NM_000402.4(G6PD):c.576-60C>G http://identifiers.org/clinvar/10424 ^@ NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) http://identifiers.org/clinvar/10472 ^@ NM_000032.4(ALAS2):c.895A>C (p.Lys299Gln) http://identifiers.org/clinvar/10563 ^@ F9, IVS1, 192A-G http://identifiers.org/clinvar/10925 ^@ NM_000397.3(CYBB):c.466G>A (p.Ala156Thr) http://identifiers.org/clinvar/11436 ^@ NM_003413.3(ZIC3):c.745C>T (p.Gln249Ter) http://identifiers.org/clinvar/11487 ^@ EBP, 1-BP DEL, 390A http://identifiers.org/clinvar/11538 ^@ NM_003611.2(OFD1):c.312delG (p.Val105Tyrfs) http://identifiers.org/clinvar/11588 ^@ NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del http://identifiers.org/clinvar/12493 ^@ NM_000359.2(TGM1):c.1175G>A (p.Gly392Asp) http://identifiers.org/clinvar/12594 ^@ NM_033360.3(KRAS):c.15A>T (p.Lys5Asn) http://identifiers.org/clinvar/12644 ^@ HNF1B, IVS2DS, G-T, +1 http://identifiers.org/clinvar/13049 ^@ NM_000539.3(RHO):c.491C>A (p.Ala164Glu) http://identifiers.org/clinvar/13100 ^@ NM_000326.4(RLBP1):c.700C>T (p.Arg234Trp) http://identifiers.org/clinvar/13150 ^@ RAG1, 13-BP DEL, NT1723 http://identifiers.org/clinvar/13202 ^@ SFTPB, 1-BP DEL, 1553T http://identifiers.org/clinvar/13252 ^@ NM_002739.4(PRKCG):c.2091_*98del102 http://identifiers.org/clinvar/13304 ^@ NM_000506.3(F2):c.1381C>T (p.Arg461Trp) http://identifiers.org/clinvar/13354 ^@ NM_001035256.2(POMC):c.433delC (p.Arg145Alafs) http://identifiers.org/clinvar/13408 ^@ NM_000311.4(PRNP):c.512A>G (p.Asn171Ser) http://identifiers.org/clinvar/13459 ^@ NM_000371.3(TTR):c.199G>A (p.Gly67Arg) http://identifiers.org/clinvar/13510 ^@ NM_002693.2(POLG):c.1491G>C (p.Gln497His) http://identifiers.org/clinvar/13560 ^@ ITGB3, IVSiDS, G-T, EXiDEL http://identifiers.org/clinvar/37058 ^@ NM_015631.5(TCTN3):c.1327C>T (p.Gln443Ter) http://identifiers.org/clinvar/37128 ^@ NM_004984.2(KIF5A):c.2263G>A (p.Glu755Lys) http://identifiers.org/clinvar/37260 ^@ NM_003036.3(SKI):c.101G>A (p.Gly34Asp) http://identifiers.org/clinvar/37350 ^@ NM_000155.3(GALT):c.777G>A (p.Arg259=) http://identifiers.org/clinvar/37415 ^@ NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) http://identifiers.org/clinvar/37467 ^@ NM_007294.3(BRCA1):c.2424delT (p.Phe808Leufs) http://identifiers.org/clinvar/37525 ^@ NM_007294.3(BRCA1):c.3354G>T (p.Gln1118His) http://identifiers.org/clinvar/37578 ^@ NM_007294.3(BRCA1):c.4243delG (p.Glu1415Lysfs) http://identifiers.org/clinvar/37630 ^@ NM_007294.3(BRCA1):c.5074+1G>T http://identifiers.org/clinvar/37684 ^@ NM_007294.3(BRCA1):c.571G>A (p.Val191Ile) http://identifiers.org/clinvar/37738 ^@ NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) http://identifiers.org/clinvar/37790 ^@ NM_000059.3(BRCA2):c.2555A>G (p.Asn852Ser) http://identifiers.org/clinvar/37843 ^@ NM_000059.3(BRCA2):c.348T>G (p.Ser116Arg) http://identifiers.org/clinvar/37895 ^@ NM_000059.3(BRCA2):c.433_435delGTT (p.Val145del) http://identifiers.org/clinvar/37949 ^@ NM_000059.3(BRCA2):c.518delG (p.Gly173Valfs) http://identifiers.org/clinvar/38001 ^@ NM_000059.3(BRCA2):c.5851_5854delAGTT (p.Ser1951Trpfs) http://identifiers.org/clinvar/38053 ^@ NM_000059.3(BRCA2):c.6566dupA (p.Asn2189Lysfs) http://identifiers.org/clinvar/38106 ^@ NM_000059.3(BRCA2):c.756_757delCA (p.Asp252Glufs) http://identifiers.org/clinvar/38156 ^@ NM_000059.3(BRCA2):c.8360G>A (p.Arg2787His) http://identifiers.org/clinvar/38206 ^@ NM_000059.3(BRCA2):c.9060_9061insTT (p.Glu3021Leufs) http://identifiers.org/clinvar/38256 ^@ NM_000059.3(BRCA2):c.9617A>C (p.Gln3206Pro) http://identifiers.org/clinvar/38318 ^@ NM_000168.5(GLI3):c.2620delC (p.Arg874Alafs) http://identifiers.org/clinvar/38375 ^@ NM_005211.3(CSF1R):c.2308G>C (p.Ala770Pro) http://identifiers.org/clinvar/38430 ^@ NM_024312.4(GNPTAB):c.555_556ins296 (p.?) http://identifiers.org/clinvar/38578 ^@ NM_000060.4(BTD):c.407dupA (p.Val137Glyfs) http://identifiers.org/clinvar/38758 ^@ NM_000495.4(COL4A5):c.1835G>A (p.Gly612Asp) http://identifiers.org/clinvar/39749 ^@ NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) http://identifiers.org/clinvar/39800 ^@ ABCC2, 168-BP DEL, NT2272 http://identifiers.org/clinvar/39851 ^@ NM_001170961.1(IGSF1):c.2248delG (p.Glu750Lysfs) http://identifiers.org/clinvar/40006 ^@ NM_012275.2(IL36RN):c.368C>G (p.Thr123Arg) http://identifiers.org/clinvar/40177 ^@ NM_194248.2(OTOF):c.1621G>A (p.Gly541Ser) http://identifiers.org/clinvar/40586 ^@ NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/40647 ^@ NM_005633.3(SOS1):c.253T>A (p.Trp85Arg) http://identifiers.org/clinvar/40738 ^@ NM_002755.3(MAP2K1):c.-2A>G http://identifiers.org/clinvar/40832 ^@ NM_030662.3(MAP2K2):c.893C>T (p.Pro298Leu) http://identifiers.org/clinvar/41009 ^@ NM_000399.4(EGR2):c.1160C>A (p.Thr387Asn) http://identifiers.org/clinvar/41066 ^@ NM_003611.2(OFD1):c.121C>T (p.Arg41Ter) http://identifiers.org/clinvar/41123 ^@ NM_003611.2(OFD1):c.431dupT (p.Leu144Phefs) http://identifiers.org/clinvar/41175 ^@ NM_003977.3(AIP):c.350delG (p.Gly117Alafs) http://identifiers.org/clinvar/41233 ^@ NM_005476.5(GNE):c.527A>T (p.Asp176Val) http://identifiers.org/clinvar/51135 ^@ NM_000059.3(BRCA2):c.1499delG (p.Gly500Valfs) http://identifiers.org/clinvar/51186 ^@ NM_000059.3(BRCA2):c.1763A>G (p.Asn588Ser) http://identifiers.org/clinvar/51238 ^@ NM_000059.3(BRCA2):c.2049_2050delTC (p.Gln684Glyfs) http://identifiers.org/clinvar/51289 ^@ NM_000059.3(BRCA2):c.2450delA (p.Lys817Argfs) http://identifiers.org/clinvar/51340 ^@ NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) http://identifiers.org/clinvar/51390 ^@ NM_000059.3(BRCA2):c.305A>G (p.Lys102Arg) http://identifiers.org/clinvar/51441 ^@ NM_000059.3(BRCA2):c.3270G>C (p.Met1090Ile) http://identifiers.org/clinvar/51492 ^@ NM_000059.3(BRCA2):c.3598T>A (p.Cys1200Ser) http://identifiers.org/clinvar/51543 ^@ NM_000059.3(BRCA2):c.3859_3860delAA (p.Asn1287Terfs) http://identifiers.org/clinvar/51595 ^@ NM_000059.3(BRCA2):c.4097_4098insCATC (p.Lys1367Ilefs) http://identifiers.org/clinvar/51647 ^@ NM_000059.3(BRCA2):c.442T>C (p.Cys148Arg) http://identifiers.org/clinvar/51698 ^@ NM_000059.3(BRCA2):c.469_470delAA (p.Lys157Valfs) http://identifiers.org/clinvar/51749 ^@ NM_000059.3(BRCA2):c.4954G>C (p.Ala1652Pro) http://identifiers.org/clinvar/51801 ^@ NM_000059.3(BRCA2):c.517-2A>G http://identifiers.org/clinvar/51853 ^@ NM_000059.3(BRCA2):c.539T>C (p.Ile180Thr) http://identifiers.org/clinvar/51905 ^@ NM_000059.3(BRCA2):c.5665delA (p.Ile1889Leufs) http://identifiers.org/clinvar/51957 ^@ NM_000059.3(BRCA2):c.5869A>G (p.Ile1957Val) http://identifiers.org/clinvar/52009 ^@ NM_000059.3(BRCA2):c.6086A>G (p.Glu2029Gly) http://identifiers.org/clinvar/52060 ^@ NM_000059.3(BRCA2):c.632-1G>A http://identifiers.org/clinvar/52114 ^@ NM_000059.3(BRCA2):c.6490_6492delCAGinsGACT (p.Gln2164Aspfs) http://identifiers.org/clinvar/52165 ^@ NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) http://identifiers.org/clinvar/52215 ^@ NM_000059.3(BRCA2):c.6871A>G (p.Asn2291Asp) http://identifiers.org/clinvar/52671 ^@ NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=) http://identifiers.org/clinvar/53678 ^@ NM_000492.3(CFTR):c.3197G>T (p.Arg1066Leu) http://identifiers.org/clinvar/53728 ^@ NM_000492.3(CFTR):c.3371_3373delAAG (p.Glu1124del) http://identifiers.org/clinvar/53779 ^@ NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) http://identifiers.org/clinvar/53831 ^@ NM_000492.3(CFTR):c.3874-19_3874-17delCTT http://identifiers.org/clinvar/53883 ^@ NM_000492.3(CFTR):c.4077_4080delTGTTinsAA (p.Val1360Thrfs) http://identifiers.org/clinvar/53934 ^@ NM_000492.3(CFTR):c.4252G>T (p.Glu1418Ter) http://identifiers.org/clinvar/53984 ^@ NM_000492.3(CFTR):c.50delT (p.Phe17Serfs) http://identifiers.org/clinvar/54034 ^@ NM_000492.3(CFTR):c.648G>T (p.Trp216Cys) http://identifiers.org/clinvar/54086 ^@ NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) http://identifiers.org/clinvar/54136 ^@ NM_007294.3(BRCA1):c.1121C>T (p.Thr374Ile) http://identifiers.org/clinvar/54186 ^@ NM_007294.3(BRCA1):c.1287dupA (p.Asp430Argfs) http://identifiers.org/clinvar/54236 ^@ NM_007294.3(BRCA1):c.1390delA (p.Thr464Profs) http://identifiers.org/clinvar/54287 ^@ NM_007294.3(BRCA1):c.1530delA (p.Gly511Alafs) http://identifiers.org/clinvar/54337 ^@ NM_007294.3(BRCA1):c.172C>G (p.Pro58Ala) http://identifiers.org/clinvar/54388 ^@ NM_007294.3(BRCA1):c.1898delC (p.Pro633Hisfs) http://identifiers.org/clinvar/54438 ^@ NM_007294.3(BRCA1):c.2019delA (p.Glu673Aspfs) http://identifiers.org/clinvar/54488 ^@ NM_007294.3(BRCA1):c.2188G>T (p.Glu730Ter) http://identifiers.org/clinvar/54538 ^@ NM_007294.3(BRCA1):c.2331T>A (p.Tyr777Ter) http://identifiers.org/clinvar/54588 ^@ NM_007294.3(BRCA1):c.2513delA (p.Asn838Thrfs) http://identifiers.org/clinvar/54638 ^@ NM_007294.3(BRCA1):c.2675T>C (p.Leu892Ser) http://identifiers.org/clinvar/54688 ^@ NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) http://identifiers.org/clinvar/54738 ^@ NM_007294.3(BRCA1):c.2989_2990dupAA (p.Asn997Lysfs) http://identifiers.org/clinvar/54788 ^@ NM_007294.3(BRCA1):c.3169_3172delAGTA (p.Ser1057Leufs) http://identifiers.org/clinvar/54838 ^@ NM_007294.3(BRCA1):c.3325_3329delAAAAA (p.Lys1109Alafs) http://identifiers.org/clinvar/101180 ^@ NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys) http://identifiers.org/clinvar/101230 ^@ NP_000081.1:p.Gly555_Pro797del http://identifiers.org/clinvar/102435 ^@ NM_001040436.2(YARS2):c.1078C>T (p.Arg360Ter) http://identifiers.org/clinvar/102493 ^@ NM_000277.1(PAH):c.1047_1048insGTCA (p.Ser350Valfs) http://identifiers.org/clinvar/102550 ^@ NM_000277.1(PAH):c.1194A>G (p.Lys398=) http://identifiers.org/clinvar/102602 ^@ NM_000277.1(PAH):c.161T>C (p.Leu54Ser) http://identifiers.org/clinvar/102657 ^@ NM_000277.1(PAH):c.365C>A (p.Pro122Gln) http://identifiers.org/clinvar/102708 ^@ NM_000277.1(PAH):c.509+1delG http://identifiers.org/clinvar/102758 ^@ NM_000277.1(PAH):c.612T>G (p.Tyr204Ter) http://identifiers.org/clinvar/102809 ^@ NM_000277.1(PAH):c.733G>A (p.Val245Met) http://identifiers.org/clinvar/102859 ^@ NM_000277.1(PAH):c.828G>T (p.Met276Ile) http://identifiers.org/clinvar/102911 ^@ NM_000277.1(PAH):c.963C>T (p.Leu321=) http://identifiers.org/clinvar/102969 ^@ NM_022162.2(NOD2):c.-824A>G http://identifiers.org/clinvar/103019 ^@ NM_001033053.2(NLRP1):c.271+186G>A http://identifiers.org/clinvar/103069 ^@ NM_001174081.2(NLRP2):c.325+3A>C http://identifiers.org/clinvar/103119 ^@ NM_022162.2(NOD2):c.2262G>A (p.Leu754=) http://identifiers.org/clinvar/103169 ^@ NM_032206.4(NLRC5):c.2940-161G>A http://identifiers.org/clinvar/103219 ^@ NM_134444.4(NLRP4):c.1857-68G>A http://identifiers.org/clinvar/103269 ^@ NM_145007.3(NLRP11):c.1841+256A>G http://identifiers.org/clinvar/103319 ^@ NM_176810.2(NLRP13):c.458-188G>A http://identifiers.org/clinvar/103369 ^@ NM_178844.3(NLRC3):c.2184-293G>C http://identifiers.org/clinvar/120255 ^@ NM_144670.5(A2ML1):c.619G>C (p.Gly207Arg) http://identifiers.org/clinvar/120305 ^@ NM_001282227.1(ADA2):c.626C>T (p.Pro209Leu) http://identifiers.org/clinvar/125536 ^@ NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) http://identifiers.org/clinvar/125617 ^@ NM_007294.3(BRCA1):c.213-77T>A http://identifiers.org/clinvar/125686 ^@ NM_007294.3(BRCA1):c.4185+12_4185+13delGT http://identifiers.org/clinvar/126619 ^@ NM_024675.3(PALB2):c.1684+42_1684+43insTGA http://identifiers.org/clinvar/126671 ^@ NM_024675.3(PALB2):c.2661C>A (p.Ile887=) http://identifiers.org/clinvar/126721 ^@ NM_024675.3(PALB2):c.3201+115T>C http://identifiers.org/clinvar/126772 ^@ NM_024675.3(PALB2):c.814G>A (p.Glu272Lys) http://identifiers.org/clinvar/126823 ^@ NM_000321.2(RB1):c.937G>T (p.Glu313Ter) http://identifiers.org/clinvar/126876 ^@ NM_000610.3(CD44):c.234-905G>A http://identifiers.org/clinvar/126932 ^@ NM_001127464.2(ZNF469):c.8912G>T (p.Gly2971Val) http://identifiers.org/clinvar/126982 ^@ NM_000251.2(MSH2):c.*387C>A http://identifiers.org/clinvar/127032 ^@ NM_005591.3(MRE11):c.1099-217A>G http://identifiers.org/clinvar/127088 ^@ NM_001739.1(CA5A):c.555G>A (p.Lys185=) http://identifiers.org/clinvar/127156 ^@ NM_025132.3(WDR19):c.682C>T (p.Gln228Ter) http://identifiers.org/clinvar/127255 ^@ NM_001127255.1(NLRP7):c.1080C>A (p.Gly360=) http://identifiers.org/clinvar/127306 ^@ NM_000038.5(APC):c.5528C>T (p.Pro1843Leu) http://identifiers.org/clinvar/127356 ^@ NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) http://identifiers.org/clinvar/127406 ^@ NM_000051.3(ATM):c.5329_5349dup21 (p.Glu1783_Asn1784insValProArgPheAspLysGlu) http://identifiers.org/clinvar/127456 ^@ NM_000051.3(ATM):c.8156G>A (p.Arg2719His) http://identifiers.org/clinvar/127507 ^@ NM_000057.3(BLM):c.3991A>G (p.Arg1331Gly) http://identifiers.org/clinvar/127557 ^@ NM_000179.2(MSH6):c.1189T>C (p.Tyr397His) http://identifiers.org/clinvar/127607 ^@ NM_000179.2(MSH6):c.926C>G (p.Ser309Cys) http://identifiers.org/clinvar/127659 ^@ NM_000314.6(PTEN):c.-1060C>G http://identifiers.org/clinvar/127717 ^@ NM_000465.3(BARD1):c.1569-13C>G http://identifiers.org/clinvar/127767 ^@ NM_000535.6(PMS2):c.1883G>A (p.Arg628Gln) http://identifiers.org/clinvar/127818 ^@ NM_000546.5(TP53):c.604C>T (p.Arg202Cys) http://identifiers.org/clinvar/160971 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/161022 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/161072 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 http://identifiers.org/clinvar/161122 ^@ NM_152296.4(ATP1A3):c.410C>T (p.Ser137Phe) http://identifiers.org/clinvar/161354 ^@ NM_000313.3(PROS1):c.284G>A (p.Gly95Glu) http://identifiers.org/clinvar/161254 ^@ NM_000238.3(KCNH2):c.2536C>G (p.Pro846Ala) http://identifiers.org/clinvar/161304 ^@ NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) http://identifiers.org/clinvar/161204 ^@ NM_000020.2(ACVRL1):c.890A>G (p.His297Arg) http://identifiers.org/clinvar/177792 ^@ NM_206933.2(USH2A):c.14986A>T (p.Ile4996Phe) http://identifiers.org/clinvar/179702 ^@ NM_001103.3(ACTN2):c.1361A>C (p.His454Pro) http://identifiers.org/clinvar/178194 ^@ NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) http://identifiers.org/clinvar/179752 ^@ NM_133378.4(TTN):c.52233G>A (p.Gly17411=) http://identifiers.org/clinvar/179502 ^@ NM_133378.4(TTN):c.88774A>G (p.Ser29592Gly) http://identifiers.org/clinvar/179602 ^@ NM_133378.4(TTN):c.70358C>G (p.Pro23453Arg) http://identifiers.org/clinvar/180102 ^@ NM_001256850.1(TTN):c.39976C>T (p.Arg13326Ter) http://identifiers.org/clinvar/179052 ^@ NM_133378.4(TTN):c.30106C>T (p.Pro10036Ser) http://identifiers.org/clinvar/179802 ^@ NM_133378.4(TTN):c.22469-13C>T http://identifiers.org/clinvar/179252 ^@ NM_133378.4(TTN):c.17425A>C (p.Thr5809Pro) http://identifiers.org/clinvar/178751 ^@ NM_001369.2(DNAH5):c.4152A>G (p.Thr1384=) http://identifiers.org/clinvar/179402 ^@ NM_005633.3(SOS1):c.21C>T (p.Pro7=) http://identifiers.org/clinvar/179152 ^@ NM_005219.4(DIAPH1):c.3360G>A (p.Glu1120=) http://identifiers.org/clinvar/177842 ^@ NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) http://identifiers.org/clinvar/177691 ^@ NM_005228.4(EGFR):c.2237_2257del21insTCT (p.Glu746_Pro753delinsValSer) http://identifiers.org/clinvar/177943 ^@ NM_005228.4(EGFR):c.2239_2264del26insACGAGAGA (p.Leu747_Ala755delinsThrArgAsp) http://identifiers.org/clinvar/179202 ^@ NM_004415.3(DSP):c.8487_8498delCCGCTCGGGATC (p.Ser2843_Arg2846del) http://identifiers.org/clinvar/179102 ^@ NM_032119.3(ADGRV1):c.12721G>A (p.Ala4241Thr) http://identifiers.org/clinvar/198439 ^@ NM_000875.4(IGF1R):c.1474G>A (p.Val492Ile) http://identifiers.org/clinvar/198491 ^@ NM_003282.3(TNNI2):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/198544 ^@ NM_006516.2(SLC2A1):c.938C>A (p.Ser313Tyr) http://identifiers.org/clinvar/198596 ^@ NM_031433.3(MFRP):c.773-9C>T http://identifiers.org/clinvar/198647 ^@ NM_033071.3(SYNE1):c.11646T>C (p.Asp3882=) http://identifiers.org/clinvar/198698 ^@ NM_000214.2(JAG1):c.1101C>T (p.Thr367=) http://identifiers.org/clinvar/198753 ^@ NM_000843.3(GRM6):c.2054C>G (p.Ser685Trp) http://identifiers.org/clinvar/198804 ^@ NM_004385.4(VCAN):c.6934G>A (p.Gly2312Arg) http://identifiers.org/clinvar/198858 ^@ NM_014467.2(SRPX2):c.920A>G (p.Gln307Arg) http://identifiers.org/clinvar/198911 ^@ NM_024753.4(TTC21B):c.796-3T>C http://identifiers.org/clinvar/198964 ^@ NM_182914.2(SYNE2):c.15928T>C (p.Leu5310=) http://identifiers.org/clinvar/199016 ^@ NM_001008216.1(GALE):c.772C>T (p.Leu258=) http://identifiers.org/clinvar/201605 ^@ NM_003000.2(SDHB):c.330_333dupTCTA (p.Ala112Serfs) http://identifiers.org/clinvar/201379 ^@ NM_001035.2(RYR2):c.3037C>T (p.Arg1013Trp) http://identifiers.org/clinvar/201265 ^@ NM_001035.2(RYR2):c.6598C>T (p.Leu2200Phe) http://identifiers.org/clinvar/201319 ^@ NM_001035.2(RYR2):c.11965A>G (p.Asn3989Asp) http://identifiers.org/clinvar/201546 ^@ NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) http://identifiers.org/clinvar/201489 ^@ NM_198056.2(SCN5A):c.3093C>T (p.Gly1031=) http://identifiers.org/clinvar/201432 ^@ NM_198056.2(SCN5A):c.483-1G>A http://identifiers.org/clinvar/200660 ^@ NM_000238.3(KCNH2):c.2724_2728dupGGGGC (p.Pro910Argfs) http://identifiers.org/clinvar/200775 ^@ NM_000238.3(KCNH2):c.170C>T (p.Ala57Val) http://identifiers.org/clinvar/200903 ^@ NM_000218.2(KCNQ1):c.1201C>T (p.Arg401Trp) http://identifiers.org/clinvar/200846 ^@ NM_000218.2(KCNQ1):c.1336G>A (p.Asp446Asn) http://identifiers.org/clinvar/201936 ^@ NM_144573.3(NEXN):c.2000G>A (p.Cys667Tyr) http://identifiers.org/clinvar/201716 ^@ NM_001927.3(DES):c.1412A>C (p.Ter471Ser) http://identifiers.org/clinvar/202049 ^@ NM_001134363.2(RBM20):c.2862C>T (p.Asp954=) http://identifiers.org/clinvar/201879 ^@ NM_032578.3(MYPN):c.625T>G (p.Ser209Ala) http://identifiers.org/clinvar/201659 ^@ NM_014391.2(ANKRD1):c.369G>A (p.Thr123=) http://identifiers.org/clinvar/201992 ^@ NM_004572.3(PKP2):c.19C>T (p.Pro7Ser) http://identifiers.org/clinvar/202107 ^@ NM_003673.3(TCAP):c.499G>A (p.Gly167Ser) http://identifiers.org/clinvar/201828 ^@ NM_002230.2(JUP):c.1876G>A (p.Ala626Thr) http://identifiers.org/clinvar/201771 ^@ NM_000117.2(EMD):c.466G>A (p.Gly156Ser) http://identifiers.org/clinvar/202216 ^@ NC_000023.10:g.(?_38485991)_(38626762_?)dup http://identifiers.org/clinvar/229988 ^@ NM_000038.5(APC):c.5033_5035delGGG (p.Gly1678del) http://identifiers.org/clinvar/230238 ^@ NM_000038.5(APC):c.5652A>C (p.Ala1884=) http://identifiers.org/clinvar/232377 ^@ NM_005732.3(RAD50):c.291A>G (p.Gln97=) http://identifiers.org/clinvar/232227 ^@ NM_005732.3(RAD50):c.1208G>A (p.Arg403Lys) http://identifiers.org/clinvar/232828 ^@ NM_004168.3(SDHA):c.739A>G (p.Ile247Val) http://identifiers.org/clinvar/231288 ^@ NM_000535.6(PMS2):c.1902T>C (p.His634=) http://identifiers.org/clinvar/232678 ^@ NM_020975.4(RET):c.1437C>A (p.Ala479=) http://identifiers.org/clinvar/230288 ^@ NM_020975.4(RET):c.1649-5T>C http://identifiers.org/clinvar/230788 ^@ NM_000051.3(ATM):c.1364T>C (p.Val455Ala) http://identifiers.org/clinvar/232978 ^@ NM_000051.3(ATM):c.1683A>G (p.Gln561=) http://identifiers.org/clinvar/232928 ^@ NM_000051.3(ATM):c.1880T>G (p.Phe627Cys) http://identifiers.org/clinvar/230438 ^@ NM_000051.3(ATM):c.4133C>T (p.Pro1378Leu) http://identifiers.org/clinvar/230738 ^@ NM_000051.3(ATM):c.4949A>C (p.Asn1650Thr) http://identifiers.org/clinvar/233078 ^@ NM_000051.3(ATM):c.5319+1G>A http://identifiers.org/clinvar/231188 ^@ NM_000051.3(ATM):c.7487G>A (p.Gly2496Glu) http://identifiers.org/clinvar/232277 ^@ NM_000075.3(CDK4):c.684-4A>G http://identifiers.org/clinvar/232177 ^@ NM_000059.3(BRCA2):c.2719A>G (p.Lys907Glu) http://identifiers.org/clinvar/231238 ^@ NM_000059.3(BRCA2):c.7008-3C>T http://identifiers.org/clinvar/231088 ^@ NM_000059.3(BRCA2):c.8494G>C (p.Glu2832Gln) http://identifiers.org/clinvar/232077 ^@ NM_000059.3(BRCA2):c.9906_9907delGAinsTT (p.Arg3302_Ser3303delinsSerCys) http://identifiers.org/clinvar/230388 ^@ NM_000548.4(TSC2):c.4565A>T (p.Asn1522Ile) http://identifiers.org/clinvar/230588 ^@ NM_024675.3(PALB2):c.71T>C (p.Leu24Ser) http://identifiers.org/clinvar/232027 ^@ NM_004360.4(CDH1):c.793G>C (p.Glu265Gln) http://identifiers.org/clinvar/230538 ^@ NM_144997.5(FLCN):c.844A>T (p.Thr282Ser) http://identifiers.org/clinvar/230688 ^@ NM_001042492.2(NF1):c.171C>T (p.Gly57=) http://identifiers.org/clinvar/233278 ^@ NM_001042492.2(NF1):c.529A>G (p.Ile177Val) http://identifiers.org/clinvar/233228 ^@ NM_001042492.2(NF1):c.1892G>A (p.Gly631Glu) http://identifiers.org/clinvar/231038 ^@ NM_007294.3(BRCA1):c.4764T>A (p.Ala1588=) http://identifiers.org/clinvar/232778 ^@ NM_007294.3(BRCA1):c.3154A>G (p.Asn1052Asp) http://identifiers.org/clinvar/230088 ^@ NM_007294.3(BRCA1):c.445G>A (p.Glu149Lys) http://identifiers.org/clinvar/232628 ^@ NM_007294.3(BRCA1):c.427G>C (p.Glu143Gln) http://identifiers.org/clinvar/232427 ^@ NM_007294.3(BRCA1):c.69G>C (p.Glu23Asp) http://identifiers.org/clinvar/230338 ^@ NM_032043.2(BRIP1):c.1793T>C (p.Val598Ala) http://identifiers.org/clinvar/230188 ^@ NM_032043.2(BRIP1):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/229938 ^@ NM_032043.2(BRIP1):c.785A>C (p.Glu262Ala) http://identifiers.org/clinvar/232527 ^@ NM_032043.2(BRIP1):c.633delT (p.Gly212Alafs) http://identifiers.org/clinvar/232878 ^@ NM_007194.3(CHEK2):c.1321A>G (p.Thr441Ala) http://identifiers.org/clinvar/232728 ^@ NM_007194.3(CHEK2):c.917G>A (p.Gly306Glu) http://identifiers.org/clinvar/232578 ^@ NM_007194.3(CHEK2):c.356A>G (p.Lys119Arg) http://identifiers.org/clinvar/235045 ^@ NM_016203.3(PRKAG2):c.611T>A (p.Phe204Tyr) http://identifiers.org/clinvar/234995 ^@ NM_000219.5(KCNE1):c.158T>G (p.Phe53Cys) http://identifiers.org/clinvar/235095 ^@ NM_001429.3(EP300):c.769_786del18 (p.Tyr257_Gly262del) http://identifiers.org/clinvar/235232 ^@ NM_032382.4(COG8):c.1591C>T (p.Pro531Ser) http://identifiers.org/clinvar/235286 ^@ NM_003990.4(PAX2):c.43+5G>T http://identifiers.org/clinvar/235338 ^@ NM_006015.4(ARID1A):c.3977_3978insGCA (p.Gln1334_Arg1335insGln) http://identifiers.org/clinvar/235391 ^@ NM_003018.3(SFTPC):c.115G>A (p.Val39Met) http://identifiers.org/clinvar/235447 ^@ NM_139241.3(FGD4):c.1562A>G (p.Asp521Gly) http://identifiers.org/clinvar/235499 ^@ NC_012920.1:m.12810A>G http://identifiers.org/clinvar/235552 ^@ NM_001033855.2(DCLRE1C):c.1739C>T (p.Pro580Leu) http://identifiers.org/clinvar/235603 ^@ NM_001127222.1(CACNA1A):c.6958_6960dupCAG (p.Gln2325_Ala2326insGln) http://identifiers.org/clinvar/235655 ^@ NC_012920.1:m.14911C>T http://identifiers.org/clinvar/235709 ^@ NM_000425.4(L1CAM):c.992-2A>G http://identifiers.org/clinvar/235771 ^@ NM_173076.2(ABCA12):c.859C>G (p.Arg287Gly) http://identifiers.org/clinvar/235843 ^@ NM_022068.3(PIEZO2):c.2993T>C (p.Met998Thr) http://identifiers.org/clinvar/236014 ^@ NM_033507.1(GCK):c.1151C>T (p.Ser384Leu) http://identifiers.org/clinvar/236077 ^@ NM_000350.2(ABCA4):c.1009T>C (p.Phe337Leu) http://identifiers.org/clinvar/239427 ^@ NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) http://identifiers.org/clinvar/239477 ^@ NM_003036.3(SKI):c.1971C>T (p.Gly657=) http://identifiers.org/clinvar/241417 ^@ NM_022051.2(EGLN1):c.471G>C (p.Gln157His) http://identifiers.org/clinvar/240967 ^@ NM_015102.4(NPHP4):c.2219G>A (p.Arg740His) http://identifiers.org/clinvar/241867 ^@ NM_144573.3(NEXN):c.688-10G>A http://identifiers.org/clinvar/238873 ^@ NM_001267550.2(TTN):c.97451_97452delCT (p.Ser32484Leufs) http://identifiers.org/clinvar/238823 ^@ NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser) http://identifiers.org/clinvar/238773 ^@ NM_001267550.2(TTN):c.40690A>G (p.Lys13564Glu) http://identifiers.org/clinvar/238723 ^@ NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln) http://identifiers.org/clinvar/239074 ^@ NM_001927.3(DES):c.1310G>A (p.Gly437Asp) http://identifiers.org/clinvar/241967 ^@ NM_152383.4(DIS3L2):c.1911A>C (p.Ala637=) http://identifiers.org/clinvar/239124 ^@ NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) http://identifiers.org/clinvar/241017 ^@ NM_015120.4(ALMS1):c.948T>C (p.Ser316=) http://identifiers.org/clinvar/241717 ^@ NM_032638.4(GATA2):c.1359G>A (p.Leu453=) http://identifiers.org/clinvar/241467 ^@ NM_024334.2(TMEM43):c.136T>C (p.Ser46Pro) http://identifiers.org/clinvar/242267 ^@ NR_001566.1(TERC):n.-99C>G http://identifiers.org/clinvar/242167 ^@ NM_181426.1(CCDC39):c.1073_1076delCAAA (p.Thr358Asnfs) http://identifiers.org/clinvar/239527 ^@ NM_003242.5(TGFBR2):c.1171C>T (p.Leu391=) http://identifiers.org/clinvar/241067 ^@ NM_015896.3(ZMYND10):c.1105C>T (p.Arg369Trp) http://identifiers.org/clinvar/238573 ^@ NM_001148.4(ANK2):c.2598C>G (p.Asp866Glu) http://identifiers.org/clinvar/242217 ^@ NM_198253.2(TERT):c.1392C>T (p.Phe464=) http://identifiers.org/clinvar/238973 ^@ NM_001369.2(DNAH5):c.4286A>G (p.Tyr1429Cys) http://identifiers.org/clinvar/238623 ^@ NM_001190787.1(MCIDAS):c.856G>A (p.Glu286Lys) http://identifiers.org/clinvar/238923 ^@ NM_001277115.1(DNAH11):c.4944+1G>A http://identifiers.org/clinvar/261816 ^@ NM_025074.6(FRAS1):c.8745C>T (p.Phe2915=) http://identifiers.org/clinvar/262066 ^@ NM_032446.2(MEGF10):c.1839G>A (p.Arg613=) http://identifiers.org/clinvar/263105 ^@ NM_198253.2(TERT):c.2256T>C (p.His752=) http://identifiers.org/clinvar/258526 ^@ NM_001999.3(FBN2):c.6990G>A (p.Arg2330=) http://identifiers.org/clinvar/258776 ^@ NM_002609.3(PDGFRB):c.2601A>G (p.Leu867=) http://identifiers.org/clinvar/261666 ^@ NM_023073.3(C5orf42):c.1736C>T (p.Ala579Val) http://identifiers.org/clinvar/259376 ^@ NM_004385.4(VCAN):c.9234G>A (p.Glu3078=) http://identifiers.org/clinvar/262166 ^@ NM_033071.3(SYNE1):c.15705-49G>A http://identifiers.org/clinvar/261116 ^@ NM_019105.6(TNXB):c.11644+16G>A http://identifiers.org/clinvar/261166 ^@ NM_019105.6(TNXB):c.8111G>A (p.Arg2704His) http://identifiers.org/clinvar/259326 ^@ NM_004370.5(COL12A1):c.2481G>A (p.Thr827=) http://identifiers.org/clinvar/258476 ^@ NM_001868.3(CPA1):c.600C>T (p.Tyr200=) http://identifiers.org/clinvar/260766 ^@ NM_016616.4(NME8):c.621+48G>T http://identifiers.org/clinvar/259677 ^@ NM_005228.4(EGFR):c.1887T>A (p.Thr629=) http://identifiers.org/clinvar/259276 ^@ NM_004315.5(ASAH1):c.127-50G>A http://identifiers.org/clinvar/259176 ^@ NM_003816.2(ADAM9):c.78C>A (p.Val26=) http://identifiers.org/clinvar/261316 ^@ NM_020476.2(ANK1):c.5265G>A (p.Val1755=) http://identifiers.org/clinvar/258626 ^@ NM_002316.3(LMX1B):c.546C>T (p.Asp182=) http://identifiers.org/clinvar/259476 ^@ NM_004629.1(FANCG):c.1433+9G>A http://identifiers.org/clinvar/262116 ^@ NM_032844.4(MASTL):c.1858C>G (p.Pro620Ala) http://identifiers.org/clinvar/262216 ^@ NM_033100.3(CDHR1):c.486G>C (p.Arg162Ser) http://identifiers.org/clinvar/260716 ^@ NM_016341.3(PLCE1):c.227C>T (p.Ala76Val) http://identifiers.org/clinvar/258826 ^@ NM_002860.3(ALDH18A1):c.304-34A>G http://identifiers.org/clinvar/260666 ^@ NM_015631.5(TCTN3):c.1096-14C>A http://identifiers.org/clinvar/259026 ^@ NM_003282.3(TNNI2):c.57+17G>C http://identifiers.org/clinvar/263255 ^@ NM_199292.2(TH):c.406-38_406-35delTTCT http://identifiers.org/clinvar/261716 ^@ NM_024426.4(WT1):c.872+16G>A http://identifiers.org/clinvar/258976 ^@ NM_003156.3(STIM1):c.1928G>A (p.Arg643His) http://identifiers.org/clinvar/259626 ^@ NM_005055.4(RAPSN):c.192+46G>A http://identifiers.org/clinvar/258576 ^@ NM_002180.2(IGHMBP2):c.602T>C (p.Leu201Ser) http://identifiers.org/clinvar/261416 ^@ NM_021625.4(TRPV4):c.1891+47C>T http://identifiers.org/clinvar/259226 ^@ NM_004064.4(CDKN1B):c.326T>G (p.Val109Gly) http://identifiers.org/clinvar/261466 ^@ NM_021957.3(GYS2):c.1422+23C>G http://identifiers.org/clinvar/261216 ^@ NM_020297.3(ABCC9):c.2769+28A>C http://identifiers.org/clinvar/261066 ^@ NM_018979.3(WNK1):c.1287A>G (p.Ala429=) http://identifiers.org/clinvar/261616 ^@ NM_022489.3(INF2):c.3153C>T (p.Asp1051=) http://identifiers.org/clinvar/261016 ^@ NM_018139.2(DNAAF2):c.1863+16A>G http://identifiers.org/clinvar/257137 ^@ NM_001024858.2(SPTB):c.6891G>A (p.Ala2297=) http://identifiers.org/clinvar/263305 ^@ NM_207581.3(DUOXA2):c.554+6T>C http://identifiers.org/clinvar/335063 ^@ NM_000541.4(SAG):c.-278A>G http://identifiers.org/clinvar/332672 ^@ NM_133378.4(TTN):c.*197C>G http://identifiers.org/clinvar/335163 ^@ NM_004544.3(NDUFA10):c.*2685C>A http://identifiers.org/clinvar/335263 ^@ NM_004321.7(KIF1A):c.3820-12C>T http://identifiers.org/clinvar/336102 ^@ NM_133259.3(LRPPRC):c.*2048dupG http://identifiers.org/clinvar/335413 ^@ NM_000183.2(HADHB):c.*244T>G http://identifiers.org/clinvar/336152 ^@ NM_133259.3(LRPPRC):c.2680C>T (p.Leu894Phe) http://identifiers.org/clinvar/336202 ^@ NM_000341.3(SLC3A1):c.1258T>G (p.Ser420Ala) http://identifiers.org/clinvar/337209 ^@ NM_000821.6(GGCX):c.*2974G>A http://identifiers.org/clinvar/337309 ^@ NM_198843.2(SFTPB):c.596C>T (p.Ala199Val) http://identifiers.org/clinvar/334213 ^@ NM_173076.2(ABCA12):c.*522_*524dupATG http://identifiers.org/clinvar/334463 ^@ NM_015311.2(OBSL1):c.5101G>A (p.Ala1701Thr) http://identifiers.org/clinvar/334413 ^@ NM_025216.2(WNT10A):c.1061C>T (p.Ser354Leu) http://identifiers.org/clinvar/334713 ^@ NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) http://identifiers.org/clinvar/342499 ^@ NM_000551.3(VHL):c.*3330_*3336dupACAAAAA http://identifiers.org/clinvar/342599 ^@ NM_000796.5(DRD3):c.691T>A (p.Cys231Ser) http://identifiers.org/clinvar/337259 ^@ NM_000821.6(GGCX):c.2081G>A (p.Arg694His) http://identifiers.org/clinvar/334613 ^@ NM_003590.4(CUL3):c.*1498C>G http://identifiers.org/clinvar/334963 ^@ NM_000751.2(CHRND):c.255C>A (p.Asp85Glu) http://identifiers.org/clinvar/335013 ^@ NM_005199.4(CHRNG):c.1259C>T (p.Pro420Leu) http://identifiers.org/clinvar/334763 ^@ NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) http://identifiers.org/clinvar/337609 ^@ NM_020184.3(CNNM4):c.*1482C>T http://identifiers.org/clinvar/342949 ^@ NM_000373.3(UMPS):c.*1080A>G http://identifiers.org/clinvar/337659 ^@ NM_001298.2(CNGA3):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/334863 ^@ NM_025243.3(SLC19A3):c.*778G>C http://identifiers.org/clinvar/334913 ^@ NM_004509.3(SP110):c.584-10C>G http://identifiers.org/clinvar/343249 ^@ NM_052985.3(IFT122):c.2208G>T (p.Lys736Asn) http://identifiers.org/clinvar/335313 ^@ NM_152783.4(D2HGDH):c.540T>C (p.Tyr180=) http://identifiers.org/clinvar/344049 ^@ NM_001041.3(SI):c.1796C>T (p.Ala599Val) http://identifiers.org/clinvar/350668 ^@ NM_032446.2(MEGF10):c.2980+14A>G http://identifiers.org/clinvar/350718 ^@ NM_032446.2(MEGF10):c.*3577T>C http://identifiers.org/clinvar/357994 ^@ NM_004999.3(MYO6):c.1180G>A (p.Val394Ile) http://identifiers.org/clinvar/350968 ^@ NM_017415.2(KLHL3):c.*1055A>G http://identifiers.org/clinvar/358394 ^@ NM_005045.3(RELN):c.5599A>C (p.Arg1867=) http://identifiers.org/clinvar/358594 ^@ NM_000108.4(DLD):c.*1877A>G http://identifiers.org/clinvar/355505 ^@ NM_017651.4(AHI1):c.1904C>T (p.Pro635Leu) http://identifiers.org/clinvar/358944 ^@ NM_018718.2(CEP41):c.289G>A (p.Ala97Thr) http://identifiers.org/clinvar/355905 ^@ NM_033071.3(SYNE1):c.7734-4T>C http://identifiers.org/clinvar/359094 ^@ NM_000083.2(CLCN1):c.261C>T (p.Thr87=) http://identifiers.org/clinvar/356005 ^@ NM_004562.2(PRKN):c.*820A>T http://identifiers.org/clinvar/356105 ^@ NM_000367.4(TPMT):c.*515G>A http://identifiers.org/clinvar/356255 ^@ NM_000063.5(C2):c.1902+5G>A http://identifiers.org/clinvar/356955 ^@ NM_006502.2(POLH):c.*1959A>C http://identifiers.org/clinvar/357005 ^@ NM_006502.2(POLH):c.*4837dupA http://identifiers.org/clinvar/360683 ^@ NM_000501.3(ELN):c.*1194A>G http://identifiers.org/clinvar/360733 ^@ NM_001540.3(HSPB1):c.-129G>T http://identifiers.org/clinvar/360983 ^@ NM_000089.3(COL1A2):c.*654_*655insGTTGTCC http://identifiers.org/clinvar/353465 ^@ NM_023073.3(C5orf42):c.792T>C (p.Asp264=) http://identifiers.org/clinvar/353565 ^@ NM_002310.5(LIFR):c.*3163T>C http://identifiers.org/clinvar/357894 ^@ NM_014989.5(RIMS1):c.*2251G>A http://identifiers.org/clinvar/357944 ^@ NM_004415.3(DSP):c.2404G>A (p.Asp802Asn) http://identifiers.org/clinvar/353415 ^@ NM_023073.3(C5orf42):c.9101A>G (p.His3034Arg) http://identifiers.org/clinvar/358044 ^@ NM_004999.3(MYO6):c.*3509G>A http://identifiers.org/clinvar/358094 ^@ NM_181714.3(LCA5):c.1260G>A (p.Lys420=) http://identifiers.org/clinvar/358144 ^@ NM_022726.3(ELOVL4):c.*40A>C http://identifiers.org/clinvar/306238 ^@ NM_024698.5(SLC25A22):c.*940T>C http://identifiers.org/clinvar/299785 ^@ NM_032844.4(MASTL):c.-53G>A http://identifiers.org/clinvar/299935 ^@ NM_020975.4(RET):c.*1558A>C http://identifiers.org/clinvar/306539 ^@ NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) http://identifiers.org/clinvar/306639 ^@ NM_139319.2(SLC17A8):c.*178G>A http://identifiers.org/clinvar/306789 ^@ NM_024312.4(GNPTAB):c.*143G>A http://identifiers.org/clinvar/306839 ^@ NM_000618.4(IGF1):c.*5533C>T http://identifiers.org/clinvar/300285 ^@ NM_018055.4(NODAL):c.*886G>A http://identifiers.org/clinvar/307778 ^@ NM_000900.3(MGP):c.-117C>T http://identifiers.org/clinvar/307928 ^@ NM_019844.3(SLCO1B3):c.*622G>A http://identifiers.org/clinvar/308278 ^@ NM_139241.3(FGD4):c.-421A>C http://identifiers.org/clinvar/308478 ^@ NM_004572.3(PKP2):c.*1023C>T http://identifiers.org/clinvar/301374 ^@ NM_005271.4(GLUD1):c.*1464C>T http://identifiers.org/clinvar/308778 ^@ NM_020638.2(FGF23):c.*1575T>C http://identifiers.org/clinvar/301424 ^@ NM_000314.6(PTEN):c.*74T>C http://identifiers.org/clinvar/308728 ^@ NM_016123.3(IRAK4):c.713C>T (p.Ala238Val) http://identifiers.org/clinvar/301524 ^@ NM_000043.5(FAS):c.103T>C (p.Leu35=) http://identifiers.org/clinvar/308828 ^@ NM_001017535.1(VDR):c.*2143A>T http://identifiers.org/clinvar/308878 ^@ NM_001017535.1(VDR):c.1048G>A (p.Ala350Thr) http://identifiers.org/clinvar/301674 ^@ NM_016341.3(PLCE1):c.-165T>C http://identifiers.org/clinvar/301774 ^@ NM_002860.3(ALDH18A1):c.842C>T (p.Ala281Val) http://identifiers.org/clinvar/301824 ^@ NM_138413.3(HOGA1):c.*950G>A http://identifiers.org/clinvar/365881 ^@ NM_019892.5(INPP5E):c.1407C>T (p.Phe469=) http://identifiers.org/clinvar/301874 ^@ NM_030962.3(SBF2):c.514-12C>T http://identifiers.org/clinvar/366032 ^@ NM_024757.4(EHMT1):c.3716+4C>T http://identifiers.org/clinvar/302074 ^@ NM_001080463.1(DYNC2H1):c.8780C>T (p.Thr2927Met) http://identifiers.org/clinvar/302124 ^@ NM_001080463.1(DYNC2H1):c.12478-6C>T http://identifiers.org/clinvar/302274 ^@ NM_000051.3(ATM):c.*1670G>A http://identifiers.org/clinvar/302324 ^@ NM_002906.3(RDX):c.*1284G>A http://identifiers.org/clinvar/302374 ^@ NM_024740.2(ALG9):c.*3125A>T http://identifiers.org/clinvar/366532 ^@ NM_001256054.2(C9orf72):c.-115A>C http://identifiers.org/clinvar/366632 ^@ NM_001497.3(B4GALT1):c.*1080T>C http://identifiers.org/clinvar/310517 ^@ NM_002469.2(MYF6):c.*411T>G http://identifiers.org/clinvar/310567 ^@ NM_020661.3(AICDA):c.*718C>A http://identifiers.org/clinvar/366832 ^@ NM_005476.5(GNE):c.*693A>T http://identifiers.org/clinvar/366432 ^@ NM_000459.4(TEK):c.1869G>A (p.Gly623=) http://identifiers.org/clinvar/310672 ^@ NM_002108.3(HAL):c.*1518C>T http://identifiers.org/clinvar/366482 ^@ NM_133497.3(KCNV2):c.*262T>A http://identifiers.org/clinvar/314311 ^@ NM_000428.2(LTBP2):c.1301C>T (p.Pro434Leu) http://identifiers.org/clinvar/312711 ^@ NM_022489.3(INF2):c.3563C>T (p.Ser1188Phe) http://identifiers.org/clinvar/341110 ^@ NM_000268.3(NF2):c.*1326T>C http://identifiers.org/clinvar/313111 ^@ NM_020529.2(NFKBIA):c.554C>T (p.Thr185Met) http://identifiers.org/clinvar/341260 ^@ NM_000343.3(SLC5A1):c.1772-5C>A http://identifiers.org/clinvar/341360 ^@ NM_000362.4(TIMP3):c.*1179T>C http://identifiers.org/clinvar/313261 ^@ NM_002408.3(MGAT2):c.*366C>G http://identifiers.org/clinvar/313411 ^@ NM_172337.2(OTX2):c.*648C>G http://identifiers.org/clinvar/313661 ^@ NM_182914.2(SYNE2):c.20383-9G>A http://identifiers.org/clinvar/323485 ^@ NM_000342.3(SLC4A1):c.*1237C>T http://identifiers.org/clinvar/323885 ^@ NM_000212.2(ITGB3):c.*674G>T http://identifiers.org/clinvar/324344 ^@ NM_032043.2(BRIP1):c.*158T>C http://identifiers.org/clinvar/368700 ^@ NM_153252.4(BRWD3):c.*3850G>C http://identifiers.org/clinvar/324494 ^@ NM_000334.4(SCN4A):c.*710T>C http://identifiers.org/clinvar/324594 ^@ NM_014336.4(AIPL1):c.*606G>A http://identifiers.org/clinvar/325483 ^@ NM_001077620.2(PRCD):c.*605G>A http://identifiers.org/clinvar/325633 ^@ NM_000546.5(TP53):c.*613C>A http://identifiers.org/clinvar/325533 ^@ NM_006640.4(SEPT9):c.-318C>T http://identifiers.org/clinvar/325733 ^@ NM_017950.3(CCDC40):c.1544C>T (p.Ala515Val) http://identifiers.org/clinvar/371855 ^@ NM_000038.5(APC):c.6371T>A (p.Leu2124Ter) http://identifiers.org/clinvar/371805 ^@ NM_004168.3(SDHA):c.1534C>T (p.Arg512Ter) http://identifiers.org/clinvar/371905 ^@ NM_006231.3(POLE):c.5174-6G>C http://identifiers.org/clinvar/371955 ^@ NM_001256849.1(POLD1):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/372005 ^@ NM_001256849.1(POLD1):c.1776-19G>A http://identifiers.org/clinvar/372105 ^@ NM_006412.3(AGPAT2):c.299G>A (p.Ser100Asn) http://identifiers.org/clinvar/372167 ^@ P4HA2, 2-BP DEL, 1349GT http://identifiers.org/clinvar/372234 ^@ NM_014026.4(DCPS):c.636+1G>A http://identifiers.org/clinvar/372391 ^@ NM_004980.4(KCND3):c.5C>A (p.Ala2Glu) http://identifiers.org/clinvar/372551 ^@ NM_001165963.1(SCN1A):c.2589+1G>T http://identifiers.org/clinvar/372288 ^@ NM_000350.2(ABCA4):c.1834C>T (p.Gln612Ter) http://identifiers.org/clinvar/372755 ^@ NM_000248.3(MITF):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/372341 ^@ NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) http://identifiers.org/clinvar/372498 ^@ NM_016038.3(SBDS):c.388G>A (p.Val130Met) http://identifiers.org/clinvar/372652 ^@ NM_012330.3(KAT6B):c.4379delT (p.Leu1460Terfs) http://identifiers.org/clinvar/372601 ^@ NM_001693.3(ATP6V1B2):c.1316_1318delTTG (p.Val439del) http://identifiers.org/clinvar/372442 ^@ NM_000280.4(PAX6):c.916+1G>C http://identifiers.org/clinvar/372805 ^@ NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) http://identifiers.org/clinvar/372858 ^@ NM_000256.3(MYBPC3):c.2334delC (p.Lys779Argfs) http://identifiers.org/clinvar/372705 ^@ NM_004985.4(KRAS):c.15A>C (p.Lys5Asn) http://identifiers.org/clinvar/373061 ^@ NM_001193466.1(KANSL1):c.1579_1582delATTG (p.Ile527Valfs) http://identifiers.org/clinvar/373011 ^@ NM_133644.3(GTPBP3):c.8G>C (p.Arg3Pro) http://identifiers.org/clinvar/372909 ^@ NM_172107.3(KCNQ2):c.743T>C (p.Phe248Ser) http://identifiers.org/clinvar/372961 ^@ NM_007254.3(PNKP):c.1188+1G>A http://identifiers.org/clinvar/374103 ^@ NM_002977.3(SCN9A):c.377+5C>T http://identifiers.org/clinvar/374053 ^@ NM_000094.3(COL7A1):c.8047G>A (p.Gly2683Ser) http://identifiers.org/clinvar/373903 ^@ NM_015046.5(SETX):c.2607_2609delAAA (p.Lys870del) http://identifiers.org/clinvar/374003 ^@ NM_002055.4(GFAP):c.1046A>C (p.Tyr349Ser) http://identifiers.org/clinvar/373953 ^@ NM_005022.3(PFN1):c.341T>G (p.Met114Arg) http://identifiers.org/clinvar/374392 ^@ NM_181332.2(NLGN4X):c.301C>T (p.Arg101Ter) http://identifiers.org/clinvar/374445 ^@ NM_004586.2(RPS6KA3):c.122A>G (p.Gln41Arg) http://identifiers.org/clinvar/374495 ^@ NM_002335.3(LRP5):c.2457C>G (p.Tyr819Ter) http://identifiers.org/clinvar/374545 ^@ NM_001197104.1(KMT2A):c.2004T>G (p.Ser668=) http://identifiers.org/clinvar/374595 ^@ NM_005876.4(SPEG):c.7810C>T (p.Leu2604Phe) http://identifiers.org/clinvar/374645 ^@ NM_020822.2(KCNT1):c.1156C>T (p.Leu386Phe) http://identifiers.org/clinvar/374695 ^@ NM_024996.5(GFM1):c.827dupT (p.Ser277Phefs) http://identifiers.org/clinvar/374745 ^@ NM_020822.2(KCNT1):c.1776C>T (p.Gly592=) http://identifiers.org/clinvar/374805 ^@ NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys) http://identifiers.org/clinvar/374855 ^@ NM_007198.3(PLPBP):c.320-2A>G http://identifiers.org/clinvar/374912 ^@ NM_001242875.2(ELP2):c.1580G>T (p.Arg527Leu) http://identifiers.org/clinvar/374972 ^@ NM_006231.3(POLE):c.4169G>A (p.Arg1390His) http://identifiers.org/clinvar/375247 ^@ NM_001282225.1(ADA2):c.927G>A (p.Met309Ile) http://identifiers.org/clinvar/375304 ^@ NM_015365.2(AMMECR1):c.530G>A (p.Gly177Asp) http://identifiers.org/clinvar/375358 ^@ NM_000520.5(HEXA):c.805+1G>C http://identifiers.org/clinvar/375409 ^@ NM_000140.3(FECH):c.1001C>T (p.Pro334Leu) http://identifiers.org/clinvar/375470 ^@ NM_003156.3(STIM1):c.1276C>T (p.Arg426Cys) http://identifiers.org/clinvar/375532 ^@ NM_000814.5(GABRB3):c.372A>C (p.Leu124Phe) http://identifiers.org/clinvar/375592 ^@ NM_024928.4(STN1):c.469G>T (p.Asp157Tyr) http://identifiers.org/clinvar/375844 ^@ NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) http://identifiers.org/clinvar/375794 ^@ NM_000527.4(LDLR):c.681delC (p.Asp227Glufs) http://identifiers.org/clinvar/375897 ^@ NM_006218.3(PIK3CA):c.1634A>T (p.Glu545Val) http://identifiers.org/clinvar/384211 ^@ NM_014362.3(HIBCH):c.*3T>C http://identifiers.org/clinvar/391729 ^@ NM_005911.5(MAT2A):c.477G>A (p.Lys159=) http://identifiers.org/clinvar/387301 ^@ NM_004321.7(KIF1A):c.3946T>A (p.Ser1316Thr) http://identifiers.org/clinvar/382909 ^@ NM_005051.2(QARS):c.117+17C>T http://identifiers.org/clinvar/383159 ^@ NM_000249.3(MLH1):c.1990-17G>C http://identifiers.org/clinvar/381267 ^@ NM_000251.2(MSH2):c.2775A>G (p.Glu925=) http://identifiers.org/clinvar/380816 ^@ NM_024582.4(FAT4):c.11399C>T (p.Ser3800Phe) http://identifiers.org/clinvar/392179 ^@ NM_016006.4(ABHD5):c.715A>G (p.Met239Val) http://identifiers.org/clinvar/381417 ^@ NM_000158.3(GBE1):c.143+11A>C http://identifiers.org/clinvar/386951 ^@ NM_001182.4(ALDH7A1):c.1008+4A>G http://identifiers.org/clinvar/392529 ^@ NM_015120.4(ALMS1):c.12392A>G (p.Gln4131Arg) http://identifiers.org/clinvar/384361 ^@ NM_000038.5(APC):c.1647G>A (p.Arg549=) http://identifiers.org/clinvar/387101 ^@ NM_006070.5(TFG):c.765A>C (p.Ala255=) http://identifiers.org/clinvar/379224 ^@ NM_000094.3(COL7A1):c.6101G>C (p.Gly2034Ala) http://identifiers.org/clinvar/389040 ^@ NM_012160.4(FBXL4):c.351G>A (p.Thr117=) http://identifiers.org/clinvar/384261 ^@ NM_012123.3(MTO1):c.-45C>A http://identifiers.org/clinvar/391979 ^@ NM_004370.5(COL12A1):c.3550C>A (p.Pro1184Thr) http://identifiers.org/clinvar/385412 ^@ NM_006416.4(SLC35A1):c.949A>C (p.Arg317=) http://identifiers.org/clinvar/381067 ^@ NM_020745.3(AARS2):c.1150-4C>G http://identifiers.org/clinvar/386751 ^@ NM_000083.2(CLCN1):c.633C>T (p.Ala211=) http://identifiers.org/clinvar/381767 ^@ NM_000535.6(PMS2):c.-30A>C http://identifiers.org/clinvar/388890 ^@ NM_020117.10(LARS):c.433-11A>G http://identifiers.org/clinvar/389290 ^@ NM_001101.3(ACTB):c.-23T>C http://identifiers.org/clinvar/391679 ^@ NM_015214.2(DDHD2):c.1058-13A>G http://identifiers.org/clinvar/387051 ^@ NM_002290.4(LAMA4):c.3663A>G (p.Pro1221=) http://identifiers.org/clinvar/385312 ^@ NM_002485.4(NBN):c.-46C>G http://identifiers.org/clinvar/389090 ^@ NM_006766.4(KAT6A):c.571G>T (p.Val191Leu) http://identifiers.org/clinvar/392029 ^@ NM_004408.3(DNM1):c.822G>A (p.Thr274=) http://identifiers.org/clinvar/380164 ^@ NM_001167734.1(VARS2):c.3236G>A (p.Arg1079Gln) http://identifiers.org/clinvar/381818 ^@ NM_003640.4(IKBKAP):c.2631C>T (p.Ala877=) http://identifiers.org/clinvar/385162 ^@ NM_020745.3(AARS2):c.2682+18C>T http://identifiers.org/clinvar/379074 ^@ NM_003165.3(STXBP1):c.552G>A (p.Lys184=) http://identifiers.org/clinvar/386251 ^@ NM_020822.2(KCNT1):c.759+6C>T http://identifiers.org/clinvar/385212 ^@ NM_004408.3(DNM1):c.1893+12G>A http://identifiers.org/clinvar/378471 ^@ NM_001134363.2(RBM20):c.153G>T (p.Pro51=) http://identifiers.org/clinvar/383009 ^@ NM_004281.3(BAG3):c.870C>A (p.Pro290=) http://identifiers.org/clinvar/384912 ^@ NM_001033855.2(DCLRE1C):c.*4T>C http://identifiers.org/clinvar/389340 ^@ NM_006393.2(NEBL):c.2612-11C>T http://identifiers.org/clinvar/133243 ^@ NM_000540.2(RYR1):c.9554+190G>T http://identifiers.org/clinvar/133323 ^@ NM_139242.3(MTFMT):c.146_153delGGGTGCTC (p.Arg49Leufs) http://identifiers.org/clinvar/133385 ^@ NM_001128849.1(SMARCA4):c.3546+16G>A http://identifiers.org/clinvar/133435 ^@ NM_007313.2(ABL1):c.2683A>G (p.Arg895Gly) http://identifiers.org/clinvar/133485 ^@ NM_004304.4(ALK):c.1427T>C (p.Val476Ala) http://identifiers.org/clinvar/133536 ^@ NM_000038.5(APC):c.8182G>A (p.Val2728Met) http://identifiers.org/clinvar/133586 ^@ NM_015338.5(ASXL1):c.3692C>T (p.Ser1231Phe) http://identifiers.org/clinvar/133636 ^@ NM_000051.3(ATM):c.8071C>T (p.Arg2691Cys) http://identifiers.org/clinvar/133686 ^@ NM_001123383.1(BCOR):c.2129G>A (p.Arg710His) http://identifiers.org/clinvar/133737 ^@ NM_000059.3(BRCA2):c.7160C>T (p.Ala2387Val) http://identifiers.org/clinvar/133790 ^@ NM_032415.5(CARD11):c.1823G>A (p.Arg608His) http://identifiers.org/clinvar/133840 ^@ NM_001039933.2(CD79B):c.500C>T (p.Thr167Met) http://identifiers.org/clinvar/133890 ^@ NM_007194.3(CHEK2):c.953G>A (p.Arg318His) http://identifiers.org/clinvar/133940 ^@ NM_004380.2(CREBBP):c.6658G>A (p.Gly2220Ser) http://identifiers.org/clinvar/133990 ^@ NM_001077706.2(ECT2L):c.1579G>A (p.Glu527Lys) http://identifiers.org/clinvar/134040 ^@ NM_001429.3(EP300):c.2576T>C (p.Ile859Thr) http://identifiers.org/clinvar/134092 ^@ NM_000400.3(ERCC2):c.1276C>G (p.Pro426Ala) http://identifiers.org/clinvar/134142 ^@ NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) http://identifiers.org/clinvar/134192 ^@ NM_000123.3(ERCC5):c.1880C>A (p.Ala627Glu) http://identifiers.org/clinvar/134242 ^@ NM_000135.2(FANCA):c.1235C>T (p.Ala412Val) http://identifiers.org/clinvar/134293 ^@ NM_000135.2(FANCA):c.755A>G (p.Asp252Gly) http://identifiers.org/clinvar/134343 ^@ NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) http://identifiers.org/clinvar/134394 ^@ NM_000142.4(FGFR3):c.62C>A (p.Ser21Tyr) http://identifiers.org/clinvar/134444 ^@ NM_004119.2(FLT3):c.452A>G (p.Asn151Ser) http://identifiers.org/clinvar/134494 ^@ NM_001077490.2(GNAS):c.948G>C (p.Thr316=) http://identifiers.org/clinvar/134544 ^@ NM_002227.3(JAK1):c.2498A>G (p.Asn833Ser) http://identifiers.org/clinvar/134594 ^@ NM_001291415.1(KDM6A):c.88G>A (p.Ala30Thr) http://identifiers.org/clinvar/134645 ^@ NM_001127500.2(MET):c.3576T>C (p.His1192=) http://identifiers.org/clinvar/135102 ^@ NM_000264.3(PTCH1):c.3766G>A (p.Val1256Met) http://identifiers.org/clinvar/135234 ^@ NM_014159.6(SETD2):c.3142G>A (p.Glu1048Lys) http://identifiers.org/clinvar/135285 ^@ NM_016169.3(SUFU):c.1028G>A (p.Arg343His) http://identifiers.org/clinvar/135335 ^@ NM_006290.3(TNFAIP3):c.619A>C (p.Ile207Leu) http://identifiers.org/clinvar/135385 ^@ NM_000548.4(TSC2):c.4007C>T (p.Ser1336Leu) http://identifiers.org/clinvar/135436 ^@ NM_000553.4(WRN):c.3785C>G (p.Thr1262Arg) http://identifiers.org/clinvar/135486 ^@ NM_004628.4(XPC):c.1780C>T (p.Arg594Cys) http://identifiers.org/clinvar/135536 ^@ NM_000123.3(ERCC5):c.-1C>G http://identifiers.org/clinvar/135600 ^@ NM_002136.3(HNRNPA1):c.841T>C (p.Phe281Leu) http://identifiers.org/clinvar/136285 ^@ NM_001103.3(ACTN2):c.1332C>T (p.His444=) http://identifiers.org/clinvar/136335 ^@ NM_005751.4(AKAP9):c.6945+8C>T http://identifiers.org/clinvar/136387 ^@ NM_001148.4(ANK2):c.2592T>C (p.Pro864=) http://identifiers.org/clinvar/187277 ^@ NM_002878.3(RAD51D):c.868C>T (p.Arg290Trp) http://identifiers.org/clinvar/185036 ^@ NM_002878.3(RAD51D):c.185C>T (p.Ser62Leu) http://identifiers.org/clinvar/187427 ^@ NM_007294.3(BRCA1):c.2765C>T (p.Thr922Ile) http://identifiers.org/clinvar/185686 ^@ NM_007294.3(BRCA1):c.1491C>G (p.Pro497=) http://identifiers.org/clinvar/184686 ^@ NM_032043.2(BRIP1):c.3276G>A (p.Pro1092=) http://identifiers.org/clinvar/185336 ^@ NM_032043.2(BRIP1):c.2871T>C (p.Pro957=) http://identifiers.org/clinvar/183986 ^@ NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) http://identifiers.org/clinvar/184936 ^@ NM_032043.2(BRIP1):c.2524C>T (p.Leu842Phe) http://identifiers.org/clinvar/185386 ^@ NM_032043.2(BRIP1):c.1897A>C (p.Ile633Leu) http://identifiers.org/clinvar/184786 ^@ NM_032043.2(BRIP1):c.984C>T (p.Phe328=) http://identifiers.org/clinvar/184736 ^@ NM_005359.5(SMAD4):c.647A>G (p.Asn216Ser) http://identifiers.org/clinvar/228397 ^@ NM_000441.1(SLC26A4):c.2224delA (p.Ile742Phefs) http://identifiers.org/clinvar/227316 ^@ NM_001277115.1(DNAH11):c.11200A>C (p.Lys3734Gln) http://identifiers.org/clinvar/227416 ^@ NM_024915.3(GRHL2):c.1416T>C (p.Pro472=) http://identifiers.org/clinvar/228347 ^@ NM_000503.5(EYA1):c.896C>A (p.Ser299Ter) http://identifiers.org/clinvar/227897 ^@ NM_001134363.2(RBM20):c.954A>G (p.Gln318=) http://identifiers.org/clinvar/228497 ^@ NM_022124.5(CDH23):c.5519G>A (p.Arg1840Gln) http://identifiers.org/clinvar/227997 ^@ NM_005422.2(TECTA):c.3315C>T (p.Tyr1105=) http://identifiers.org/clinvar/228197 ^@ NM_005709.3(USH1C):c.921G>A (p.Ala307=) http://identifiers.org/clinvar/226914 ^@ NM_001277269.1(OTOG):c.805G>A (p.Val269Ile) http://identifiers.org/clinvar/226864 ^@ NM_001277269.1(OTOG):c.1833G>A (p.Arg611=) http://identifiers.org/clinvar/227796 ^@ NM_001277269.1(OTOG):c.7667G>A (p.Arg2556Gln) http://identifiers.org/clinvar/227846 ^@ NM_004572.3(PKP2):c.1806+15A>C http://identifiers.org/clinvar/226964 ^@ NM_173591.3(OTOGL):c.6129C>T (p.Leu2043=) http://identifiers.org/clinvar/227596 ^@ NM_000257.3(MYH7):c.3438C>T (p.Ile1146=) http://identifiers.org/clinvar/227366 ^@ NM_004452.3(ESRRB):c.943G>A (p.Ala315Thr) http://identifiers.org/clinvar/228297 ^@ NM_001018005.1(TPM1):c.496G>A (p.Ala166Thr) http://identifiers.org/clinvar/227646 ^@ NM_016239.3(MYO15A):c.6060C>T (p.Ala2020=) http://identifiers.org/clinvar/227746 ^@ NM_001042492.2(NF1):c.6732G>A (p.Leu2244=) http://identifiers.org/clinvar/226814 ^@ NM_003803.3(MYOM1):c.2673G>C (p.Leu891=) http://identifiers.org/clinvar/227696 ^@ NM_003803.3(MYOM1):c.2350G>A (p.Glu784Lys) http://identifiers.org/clinvar/227516 ^@ NM_144612.6(LOXHD1):c.3279C>T (p.His1093=) http://identifiers.org/clinvar/228597 ^@ NM_004006.2(DMD):c.31+83105G>A http://identifiers.org/clinvar/228047 ^@ NM_144991.2(TSPEAR):c.151G>A (p.Val51Ile) http://identifiers.org/clinvar/228447 ^@ NM_001692.3(ATP6V1B1):c.5C>A (p.Ala2Asp) http://identifiers.org/clinvar/234855 ^@ NM_000249.3(MLH1):c.754T>C (p.Ser252Pro) http://identifiers.org/clinvar/234754 ^@ NM_004387.3(NKX2-5):c.938C>T (p.Ser313Leu) http://identifiers.org/clinvar/234905 ^@ NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter) http://identifiers.org/clinvar/230638 ^@ NM_001128425.1(MUTYH):c.912C>G (p.Ser304Arg) http://identifiers.org/clinvar/230038 ^@ NM_001128425.1(MUTYH):c.731G>A (p.Cys244Tyr) http://identifiers.org/clinvar/231138 ^@ NM_001128425.1(MUTYH):c.165A>C (p.Ala55=) http://identifiers.org/clinvar/232127 ^@ NM_000465.3(BARD1):c.1872delT (p.Leu625Serfs) http://identifiers.org/clinvar/232477 ^@ NM_000465.3(BARD1):c.1311T>C (p.Ile437=) http://identifiers.org/clinvar/233028 ^@ NM_000251.2(MSH2):c.-68-28G>A http://identifiers.org/clinvar/230988 ^@ NM_000179.2(MSH6):c.1151G>A (p.Arg384Lys) http://identifiers.org/clinvar/230488 ^@ NM_000179.2(MSH6):c.3843G>A (p.Glu1281=) http://identifiers.org/clinvar/233178 ^@ NM_000249.3(MLH1):c.741C>T (p.Ser247=) http://identifiers.org/clinvar/233128 ^@ NM_000249.3(MLH1):c.918delT (p.Asn306Lysfs) http://identifiers.org/clinvar/230138 ^@ NM_000249.3(MLH1):c.1076T>C (p.Met359Thr) http://identifiers.org/clinvar/230838 ^@ NM_000038.5(APC):c.1333C>G (p.Gln445Glu) http://identifiers.org/clinvar/232327 ^@ NM_000038.5(APC):c.4020T>C (p.Ser1340=) http://identifiers.org/clinvar/263563 ^@ NM_024422.4(DSC2):c.2353G>A (p.Glu785Lys) http://identifiers.org/clinvar/263613 ^@ NM_020433.4(JPH2):c.45C>T (p.Cys15=) http://identifiers.org/clinvar/263813 ^@ NM_000071.2(CBS):c.1436T>C (p.Val479Ala) http://identifiers.org/clinvar/264213 ^@ NM_001456.3(FLNA):c.3756G>A (p.Ala1252=) http://identifiers.org/clinvar/263511 ^@ NM_004006.2(DMD):c.10940G>A (p.Ser3647Asn) http://identifiers.org/clinvar/263360 ^@ NM_001103.2:c.378C>T http://identifiers.org/clinvar/263461 ^@ NM_004006.2:c.8810G>A http://identifiers.org/clinvar/264677 ^@ NM_005055.4(RAPSN):c.-199C>G http://identifiers.org/clinvar/264734 ^@ NM_001242896.1(DEPDC5):c.1759C>T (p.Arg587Ter) http://identifiers.org/clinvar/264889 ^@ NM_000059.3(BRCA2):c.7008-1934_7008-1933dup http://identifiers.org/clinvar/264939 ^@ NM_000059.3(BRCA2):c.8332-2952del http://identifiers.org/clinvar/264789 ^@ NM_007294.3(BRCA1):c.*1327G>A http://identifiers.org/clinvar/264839 ^@ NM_007294.3(BRCA1):c.81-1947A>G http://identifiers.org/clinvar/265248 ^@ NM_005373.2(MPL):c.317C>T (p.Pro106Leu) http://identifiers.org/clinvar/265399 ^@ NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) http://identifiers.org/clinvar/265299 ^@ NM_001165963.1(SCN1A):c.4581+2T>C http://identifiers.org/clinvar/265700 ^@ NM_001256850.1(TTN):c.44490G>A (p.Trp14830Ter) http://identifiers.org/clinvar/265195 ^@ NM_002185.3(IL7R):c.221+2T>G http://identifiers.org/clinvar/265044 ^@ NM_000050.4(ASS1):c.919C>T (p.Arg307Cys) http://identifiers.org/clinvar/265499 ^@ NM_000280.4(PAX6):c.199A>T (p.Arg67Ter) http://identifiers.org/clinvar/265144 ^@ NM_139241.3(FGD4):c.1397_1398delCA (p.Thr466Serfs) http://identifiers.org/clinvar/264991 ^@ NM_015665.5(AAAS):c.1058T>C (p.Ile353Thr) http://identifiers.org/clinvar/265549 ^@ NM_000059.3(BRCA2):c.4562_4563delTAinsCG (p.Leu1521Pro) http://identifiers.org/clinvar/265349 ^@ NM_000153.3(GALC):c.956A>G (p.Tyr319Cys) http://identifiers.org/clinvar/265094 ^@ NM_000781.2(CYP11A1):c.835delA (p.Ile279Tyrfs) http://identifiers.org/clinvar/265650 ^@ NM_001271043.2(NFIX):c.974_978delATGCA (p.Asp325Glyfs) http://identifiers.org/clinvar/265449 ^@ NM_003560.2(PLA2G6):c.208C>T (p.Arg70Ter) http://identifiers.org/clinvar/265600 ^@ NM_000061.2(BTK):c.307C>T (p.Gln103Ter) http://identifiers.org/clinvar/265789 ^@ NM_001415.3(EIF2S3):c.1394_1397delTCAA (p.Ile465Serfs) http://identifiers.org/clinvar/265939 ^@ NM_174936.3(PCSK9):c.1120G>C (p.Asp374His) http://identifiers.org/clinvar/265889 ^@ NM_000384.2(APOB):c.7853T>C (p.Ile2618Thr) http://identifiers.org/clinvar/265994 ^@ NM_017780.3(CHD7):c.2731C>T (p.Leu911Phe) http://identifiers.org/clinvar/266471 ^@ NM_007294.3(BRCA1):c.4349C>G (p.Ser1450Ter) http://identifiers.org/clinvar/267667 ^@ NM_000059.3(BRCA2):c.6938-1G>A http://identifiers.org/clinvar/267717 ^@ NM_000059.3(BRCA2):c.9118-2A>C http://identifiers.org/clinvar/267567 ^@ NM_007294.3(BRCA1):c.4987-2508_5074+84del http://identifiers.org/clinvar/267617 ^@ NM_007294.3(BRCA1):c.671-2A>G http://identifiers.org/clinvar/267796 ^@ NM_138704.3(NSMCE3):c.626C>T (p.Pro209Leu) http://identifiers.org/clinvar/267847 ^@ 46;XY;t(9;11)(q34;p11.2)dn http://identifiers.org/clinvar/267897 ^@ 46;XY;t(6;8)(q13;q13)dn http://identifiers.org/clinvar/267947 ^@ 46;XX;t(2;14)(q21;q24.3)dn http://identifiers.org/clinvar/290900 ^@ NM_000271.4(NPC1):c.974_975insGA (p.Asp325Glufs) http://identifiers.org/clinvar/290950 ^@ NM_002618.3(PEX13):c.1044T>C (p.Val348=) http://identifiers.org/clinvar/291000 ^@ NM_014336.4(AIPL1):c.1090G>T (p.Ala364Ser) http://identifiers.org/clinvar/292068 ^@ NM_138959.2(VANGL1):c.*3544C>T http://identifiers.org/clinvar/291718 ^@ NM_005272.3(GNAT2):c.928C>T (p.Leu310Phe) http://identifiers.org/clinvar/291818 ^@ NM_013319.2(UBIAD1):c.-47T>G http://identifiers.org/clinvar/292168 ^@ NM_005957.4(MTHFR):c.*4041G>A http://identifiers.org/clinvar/291868 ^@ NM_003051.3(SLC16A1):c.362-14_362-11delTATT http://identifiers.org/clinvar/291918 ^@ NM_003051.3(SLC16A1):c.-249C>T http://identifiers.org/clinvar/292018 ^@ NM_138959.2(VANGL1):c.*300C>T http://identifiers.org/clinvar/291968 ^@ NM_002524.4(NRAS):c.*774A>G http://identifiers.org/clinvar/292568 ^@ NM_019032.5(ADAMTSL4):c.*120G>A http://identifiers.org/clinvar/292268 ^@ NM_000198.3(HSD3B2):c.1084C>T (p.Arg362Trp) http://identifiers.org/clinvar/292718 ^@ NM_001111.4(ADAR):c.*1728C>T http://identifiers.org/clinvar/292418 ^@ NM_213653.3(HFE2):c.-135T>C http://identifiers.org/clinvar/292118 ^@ NM_001232.3(CASQ2):c.*1017delA http://identifiers.org/clinvar/292518 ^@ NM_019032.5(ADAMTSL4):c.232C>T (p.Leu78Phe) http://identifiers.org/clinvar/292868 ^@ NM_022367.3(SEMA4A):c.*570A>C http://identifiers.org/clinvar/292618 ^@ NM_000449.3(RFX5):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/292218 ^@ NM_005957.4(MTHFR):c.*702delT http://identifiers.org/clinvar/292318 ^@ NM_006623.3(PHGDH):c.1158G>A (p.Ala386=) http://identifiers.org/clinvar/292368 ^@ NM_014874.3(MFN2):c.-212T>C http://identifiers.org/clinvar/292818 ^@ NM_000298.5(PKLR):c.181C>T (p.Leu61=) http://identifiers.org/clinvar/293068 ^@ NM_002241.4(KCNJ10):c.*3853G>C http://identifiers.org/clinvar/292468 ^@ NM_005267.4(GJA8):c.875T>C (p.Leu292Pro) http://identifiers.org/clinvar/292668 ^@ NM_152263.3(TPM3):c.*2138T>C http://identifiers.org/clinvar/292768 ^@ NM_001111.4(ADAR):c.2079+8G>A http://identifiers.org/clinvar/293807 ^@ NM_003000.2(SDHB):c.*133T>C http://identifiers.org/clinvar/292918 ^@ NM_003126.2(SPTA1):c.*323T>C http://identifiers.org/clinvar/293957 ^@ NM_002065.6(GLUL):c.-280C>T http://identifiers.org/clinvar/292968 ^@ NM_003126.2(SPTA1):c.5566-10A>G http://identifiers.org/clinvar/293018 ^@ NM_003126.2(SPTA1):c.2323T>C (p.Phe775Leu) http://identifiers.org/clinvar/294207 ^@ NM_031935.2(HMCN1):c.9081A>G (p.Val3027=) http://identifiers.org/clinvar/294407 ^@ NM_024529.4(CDC73):c.-121G>A http://identifiers.org/clinvar/294457 ^@ NM_024529.4(CDC73):c.*2982T>C http://identifiers.org/clinvar/294657 ^@ NM_018136.4(ASPM):c.193C>A (p.Leu65Met) http://identifiers.org/clinvar/294707 ^@ NM_000069.2(CACNA1S):c.5020A>C (p.Asn1674His) http://identifiers.org/clinvar/294857 ^@ NM_001005337.2(PKP1):c.*924T>C http://identifiers.org/clinvar/294807 ^@ NM_001005337.2(PKP1):c.482G>A (p.Cys161Tyr) http://identifiers.org/clinvar/294957 ^@ NM_000537.3(REN):c.630C>T (p.Phe210=) http://identifiers.org/clinvar/293857 ^@ NM_033343.3(LHX4):c.37G>A (p.Val13Ile) http://identifiers.org/clinvar/293907 ^@ NM_002065.6(GLUL):c.*1692A>G http://identifiers.org/clinvar/344199 ^@ NM_198407.2(GHSR):c.1017A>G (p.Gly339=) http://identifiers.org/clinvar/343349 ^@ NM_014382.3(ATP2C1):c.*1564C>T http://identifiers.org/clinvar/343499 ^@ NM_024334.2(TMEM43):c.32G>A (p.Arg11Gln) http://identifiers.org/clinvar/343599 ^@ NM_001184.3(ATR):c.5739-14_5739-6delGTTACTTCCinsT http://identifiers.org/clinvar/343749 ^@ NM_000096.3(CP):c.*137C>T http://identifiers.org/clinvar/336252 ^@ NM_001430.4(EPAS1):c.780-15T>A http://identifiers.org/clinvar/336302 ^@ NM_001430.4(EPAS1):c.*833G>A http://identifiers.org/clinvar/336352 ^@ NM_139279.5(MCFD2):c.*1724C>T http://identifiers.org/clinvar/343999 ^@ NM_001041.3(SI):c.5405C>G (p.Thr1802Ser) http://identifiers.org/clinvar/344988 ^@ NM_001106.3(ACVR2B):c.*4423A>G http://identifiers.org/clinvar/345038 ^@ NM_001106.3(ACVR2B):c.*9038G>A http://identifiers.org/clinvar/345188 ^@ NM_018075.4(ANO10):c.1012G>A (p.Asp338Asn) http://identifiers.org/clinvar/336709 ^@ NM_032180.2(FAM161A):c.*1549G>T http://identifiers.org/clinvar/337159 ^@ NM_003849.3(SUCLG1):c.201+8T>A http://identifiers.org/clinvar/345588 ^@ NM_000316.2(PTH1R):c.473C>G (p.Pro158Arg) http://identifiers.org/clinvar/345738 ^@ NM_002222.5(ITPR1):c.4551C>T (p.Ser1517=) http://identifiers.org/clinvar/337359 ^@ NM_022912.2(REEP1):c.*2111_*2112insT http://identifiers.org/clinvar/337409 ^@ NM_004836.6(EIF2AK3):c.2064C>A (p.Ser688Arg) http://identifiers.org/clinvar/337459 ^@ NM_017849.3(TMEM127):c.*2548T>C http://identifiers.org/clinvar/346038 ^@ NM_000481.3(AMT):c.84C>T (p.Cys28=) http://identifiers.org/clinvar/337509 ^@ NM_017849.3(TMEM127):c.-59C>T http://identifiers.org/clinvar/346088 ^@ NM_153281.1(HYAL1):c.384C>T (p.Ile128=) http://identifiers.org/clinvar/337559 ^@ NM_014014.4(SNRNP200):c.1098C>T (p.Thr366=) http://identifiers.org/clinvar/342449 ^@ NM_000551.3(VHL):c.*1782T>G http://identifiers.org/clinvar/345638 ^@ NM_015175.2(NBEAL2):c.2376G>A (p.Arg792=) http://identifiers.org/clinvar/342549 ^@ NM_198196.2(CD96):c.*125G>A http://identifiers.org/clinvar/345788 ^@ NM_000094.3(COL7A1):c.*65T>C http://identifiers.org/clinvar/342999 ^@ NM_000373.3(UMPS):c.*3183dupA http://identifiers.org/clinvar/342899 ^@ NM_053025.3(MYLK):c.969G>A (p.Glu323=) http://identifiers.org/clinvar/343049 ^@ NM_015869.4(PPARG):c.1371A>G (p.Ser457=) http://identifiers.org/clinvar/343099 ^@ NM_002880.3(RAF1):c.*190G>A http://identifiers.org/clinvar/347677 ^@ NM_000901.4(NR3C2):c.*2354T>C http://identifiers.org/clinvar/343199 ^@ NM_014049.4(ACAD9):c.1331C>T (p.Ala444Val) http://identifiers.org/clinvar/343149 ^@ NM_004637.5(RAB7A):c.-209_-204dupTGGCGG http://identifiers.org/clinvar/347877 ^@ NM_004744.4(LRAT):c.*2529C>T http://identifiers.org/clinvar/347927 ^@ NM_000824.4(GLRB):c.1044A>G (p.Ala348=) http://identifiers.org/clinvar/343299 ^@ NM_000539.3(RHO):c.*741T>C http://identifiers.org/clinvar/348027 ^@ NM_001166108.1(PALLD):c.186G>A (p.Lys62=) http://identifiers.org/clinvar/348077 ^@ NM_001166108.1(PALLD):c.*2184G>A http://identifiers.org/clinvar/343399 ^@ NM_003571.3(BFSP2):c.100T>C (p.Ser34Pro) http://identifiers.org/clinvar/343449 ^@ NM_001063.3(TF):c.1785C>T (p.Asn595=) http://identifiers.org/clinvar/343699 ^@ NM_032383.4(HPS3):c.884+25delT http://identifiers.org/clinvar/343549 ^@ NM_004628.4(XPC):c.*756T>C http://identifiers.org/clinvar/348377 ^@ NM_000128.3(F11):c.1200G>A (p.Pro400=) http://identifiers.org/clinvar/343649 ^@ NM_000935.2(PLOD2):c.533G>A (p.Arg178His) http://identifiers.org/clinvar/343949 ^@ NM_024996.5(GFM1):c.*766G>T http://identifiers.org/clinvar/354015 ^@ NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) http://identifiers.org/clinvar/353765 ^@ NM_002203.3(ITGA2):c.2429A>G (p.Gln810Arg) http://identifiers.org/clinvar/358294 ^@ NM_003227.3(TFR2):c.849+6T>A http://identifiers.org/clinvar/358344 ^@ NM_198999.2(SLC26A5):c.2177C>T (p.Ala726Val) http://identifiers.org/clinvar/353915 ^@ NM_001104631.1(PDE4D):c.*5000A>G http://identifiers.org/clinvar/354065 ^@ NM_017755.5(NSUN2):c.-27C>A http://identifiers.org/clinvar/358694 ^@ NM_001127500.2(MET):c.4128C>T (p.Asn1376=) http://identifiers.org/clinvar/354215 ^@ NM_003664.4(AP3B1):c.*379A>G http://identifiers.org/clinvar/362632 ^@ NM_006158.4(NEFL):c.*687G>C http://identifiers.org/clinvar/354315 ^@ NM_000046.3(ARSB):c.82C>T (p.Leu28=) http://identifiers.org/clinvar/354415 ^@ NM_004385.4(VCAN):c.3201G>A (p.Glu1067=) http://identifiers.org/clinvar/363332 ^@ NM_017813.4(IMPAD1):c.*5302C>T http://identifiers.org/clinvar/363432 ^@ NM_017780.3(CHD7):c.-447_-445dupGCG http://identifiers.org/clinvar/355305 ^@ NM_000426.3(LAMA2):c.8836G>A (p.Gly2946Arg) http://identifiers.org/clinvar/355355 ^@ NM_006208.2(ENPP1):c.*38G>A http://identifiers.org/clinvar/355255 ^@ NM_000426.3(LAMA2):c.2097-3T>C http://identifiers.org/clinvar/355405 ^@ NM_006208.2(ENPP1):c.*2342G>T http://identifiers.org/clinvar/355655 ^@ NM_003764.3(STX11):c.*3749T>C http://identifiers.org/clinvar/355705 ^@ NM_203395.2(IYD):c.*794A>G http://identifiers.org/clinvar/355755 ^@ NM_203395.2(IYD):c.*3655G>A http://identifiers.org/clinvar/356055 ^@ NM_003730.4(RNASET2):c.-396T>C http://identifiers.org/clinvar/360583 ^@ NM_153033.4(KCTD7):c.-46C>G http://identifiers.org/clinvar/356155 ^@ NM_001080.3(ALDH5A1):c.*765G>A http://identifiers.org/clinvar/356305 ^@ NM_006929.4(SKIV2L):c.-195C>T http://identifiers.org/clinvar/356405 ^@ NM_080680.2(COL11A2):c.1818+15G>A http://identifiers.org/clinvar/356455 ^@ NM_021922.2(FANCE):c.*151A>G http://identifiers.org/clinvar/360883 ^@ NM_194456.1(KRIT1):c.1412-9G>A http://identifiers.org/clinvar/356205 ^@ NM_000410.3(HFE):c.*801T>C http://identifiers.org/clinvar/356555 ^@ NM_001145717.1(PNPLA1):c.235G>A (p.Val79Met) http://identifiers.org/clinvar/361033 ^@ NM_014251.2(SLC25A13):c.-160C>T http://identifiers.org/clinvar/361133 ^@ NM_015713.4(RRM2B):c.*3078G>T http://identifiers.org/clinvar/356355 ^@ NM_006929.4(SKIV2L):c.3719C>T (p.Ala1240Val) http://identifiers.org/clinvar/361183 ^@ NM_015713.4(RRM2B):c.-153G>T http://identifiers.org/clinvar/356505 ^@ NM_182548.3(LHFPL5):c.*455_*460delCACACA http://identifiers.org/clinvar/365831 ^@ NM_052813.4(CARD9):c.*130G>A http://identifiers.org/clinvar/365932 ^@ NM_006412.3(AGPAT2):c.189C>T (p.Ile63=) http://identifiers.org/clinvar/361743 ^@ NM_014846.3(WASHC5):c.-245C>G http://identifiers.org/clinvar/367182 ^@ NM_000170.2(GLDC):c.2149A>G (p.Ile717Val) http://identifiers.org/clinvar/366682 ^@ NM_012144.3(DNAI1):c.-83G>C http://identifiers.org/clinvar/311172 ^@ NM_001846.3(COL4A2):c.4096G>A (p.Asp1366Asn) http://identifiers.org/clinvar/366732 ^@ NM_004629.1(FANCG):c.1638T>C (p.Gly546=) http://identifiers.org/clinvar/311272 ^@ NM_000504.3(F10):c.348C>T (p.Phe116=) http://identifiers.org/clinvar/366782 ^@ NM_003995.3(NPR2):c.853G>A (p.Ala285Thr) http://identifiers.org/clinvar/311422 ^@ NM_002010.2(FGF9):c.283C>G (p.Leu95Val) http://identifiers.org/clinvar/367461 ^@ NM_058179.3(PSAT1):c.1059C>T (p.Asp353=) http://identifiers.org/clinvar/367561 ^@ NM_000507.3(FBP1):c.-59A>T http://identifiers.org/clinvar/311822 ^@ NM_001127217.2(SMAD9):c.*3560_*3561dupTA http://identifiers.org/clinvar/367082 ^@ NM_004170.5(SLC1A1):c.*1100T>C http://identifiers.org/clinvar/298635 ^@ NM_017649.4(CNNM2):c.113G>A (p.Arg38Gln) http://identifiers.org/clinvar/298785 ^@ NM_001134363.2(RBM20):c.128A>C (p.Gln43Pro) http://identifiers.org/clinvar/312611 ^@ NM_005708.4(GPC6):c.*4656T>A http://identifiers.org/clinvar/312761 ^@ NM_001145.4(ANG):c.-534C>T http://identifiers.org/clinvar/298585 ^@ NM_016169.3(SUFU):c.*915G>C http://identifiers.org/clinvar/313061 ^@ NM_025152.2(NUBPL):c.*1155dupG http://identifiers.org/clinvar/299035 ^@ NM_001099667.1(ARMS2):c.*161C>T http://identifiers.org/clinvar/299285 ^@ NM_001033855.2(DCLRE1C):c.*878C>G http://identifiers.org/clinvar/313461 ^@ NM_005982.3(SIX1):c.*276_*279delCAAA http://identifiers.org/clinvar/313761 ^@ NM_000347.5(SPTB):c.1606G>A (p.Asp536Asn) http://identifiers.org/clinvar/299085 ^@ NM_001609.3(ACADSB):c.1156A>G (p.Ile386Val) http://identifiers.org/clinvar/313861 ^@ NM_015346.3(ZFYVE26):c.*751C>G http://identifiers.org/clinvar/305175 ^@ NM_032667.6(BSCL2):c.747C>T (p.Ile249=) http://identifiers.org/clinvar/305275 ^@ NM_005609.3(PYGM):c.1196G>A (p.Arg399Gln) http://identifiers.org/clinvar/299235 ^@ NM_021980.4(OPTN):c.*1089G>A http://identifiers.org/clinvar/314161 ^@ NM_005589.3(ALDH6A1):c.*403T>C http://identifiers.org/clinvar/299435 ^@ NM_001081.3(CUBN):c.6729G>A (p.Pro2243=) http://identifiers.org/clinvar/299485 ^@ NM_001081.3(CUBN):c.3995A>G (p.Asn1332Ser) http://identifiers.org/clinvar/305625 ^@ NM_000920.3(PC):c.1514-6C>T http://identifiers.org/clinvar/305675 ^@ NM_145200.3(CABP4):c.*1223G>A http://identifiers.org/clinvar/300185 ^@ NM_033056.3(PCDH15):c.2807C>T (p.Ala936Val) http://identifiers.org/clinvar/299635 ^@ NM_017433.4(MYO3A):c.-312G>A http://identifiers.org/clinvar/300235 ^@ NM_000417.2(IL2RA):c.*889G>A http://identifiers.org/clinvar/299835 ^@ NM_021252.4(RAB18):c.*758A>T http://identifiers.org/clinvar/306138 ^@ NM_006755.1(TALDO1):c.952G>A (p.Asp318Asn) http://identifiers.org/clinvar/306339 ^@ NM_012193.3(FZD4):c.*4414T>C http://identifiers.org/clinvar/306389 ^@ NM_012193.3(FZD4):c.*827A>G http://identifiers.org/clinvar/300135 ^@ NM_000242.2(MBL2):c.*1134C>T http://identifiers.org/clinvar/317611 ^@ NM_000875.4(IGF1R):c.*5633A>G http://identifiers.org/clinvar/311122 ^@ NM_001846.3(COL4A2):c.1256C>T (p.Ala419Val) http://identifiers.org/clinvar/329633 ^@ NM_025136.3(OPA3):c.*2896G>A http://identifiers.org/clinvar/311472 ^@ NM_002010.2(FGF9):c.*2586A>G http://identifiers.org/clinvar/311622 ^@ NM_018451.4(CENPJ):c.1595C>T (p.Pro532Leu) http://identifiers.org/clinvar/329983 ^@ NM_144687.3(NLRP12):c.*430G>A http://identifiers.org/clinvar/311672 ^@ NM_000059.3(BRCA2):c.*545T>C http://identifiers.org/clinvar/318352 ^@ NM_001039.3(SCNN1G):c.663G>T (p.Ser221=) http://identifiers.org/clinvar/318602 ^@ NM_001089.2(ABCA3):c.-670C>T http://identifiers.org/clinvar/311772 ^@ NM_015087.4(SPG20):c.-33C>T http://identifiers.org/clinvar/330183 ^@ NM_206828.3(NLRP7):c.390G>A (p.Gln130=) http://identifiers.org/clinvar/318702 ^@ NM_020705.2(TBC1D24):c.*4128G>A http://identifiers.org/clinvar/310617 ^@ NM_025114.3(CEP290):c.1623+10G>T http://identifiers.org/clinvar/310822 ^@ NM_018979.3(WNK1):c.3664-15T>A http://identifiers.org/clinvar/330533 ^@ NM_006702.4(PNPLA6):c.2889C>T (p.Gly963=) http://identifiers.org/clinvar/337859 ^@ NM_000361.2(THBD):c.*1239G>A http://identifiers.org/clinvar/319152 ^@ NM_032444.2(SLX4):c.4494G>A (p.Leu1498=) http://identifiers.org/clinvar/310922 ^@ NM_000123.3(ERCC5):c.1460C>T (p.Pro487Leu) http://identifiers.org/clinvar/319352 ^@ NM_000293.2(PHKB):c.1802C>T (p.Ala601Val) http://identifiers.org/clinvar/312511 ^@ NM_052910.2(SLITRK1):c.-242_-241dupTT http://identifiers.org/clinvar/338209 ^@ NM_003098.2(SNTA1):c.*79C>A http://identifiers.org/clinvar/312661 ^@ NM_001376.4(DYNC1H1):c.13152G>A (p.Ala4384=) http://identifiers.org/clinvar/311222 ^@ NM_000131.4(F7):c.169C>A (p.Arg57=) http://identifiers.org/clinvar/338359 ^@ NM_153638.3(PANK2):c.281G>C (p.Arg94Pro) http://identifiers.org/clinvar/312811 ^@ NM_001126106.2(SLC7A7):c.1400A>T (p.Lys467Met) http://identifiers.org/clinvar/311322 ^@ NM_021954.3(GJA3):c.*509A>G http://identifiers.org/clinvar/311372 ^@ NM_004004.5(GJB2):c.241C>G (p.Leu81Val) http://identifiers.org/clinvar/320053 ^@ NM_001297.4(CNGB1):c.*33A>G http://identifiers.org/clinvar/312961 ^@ NM_001099274.1(TINF2):c.-161G>A http://identifiers.org/clinvar/311522 ^@ NM_014363.5(SACS):c.7857T>C (p.Thr2619=) http://identifiers.org/clinvar/311572 ^@ NM_014363.5(SACS):c.345+14C>T http://identifiers.org/clinvar/313011 ^@ NM_004086.2(COCH):c.*407C>T http://identifiers.org/clinvar/311722 ^@ NM_004795.3(KL):c.*1007T>C http://identifiers.org/clinvar/313311 ^@ NM_015915.4(ATL1):c.*392C>A http://identifiers.org/clinvar/313511 ^@ NM_182914.2(SYNE2):c.5020T>C (p.Leu1674=) http://identifiers.org/clinvar/321092 ^@ NM_020686.5(ABAT):c.*99G>C http://identifiers.org/clinvar/313811 ^@ NM_002382.4(MAX):c.*297C>T http://identifiers.org/clinvar/321546 ^@ NM_000833.4(GRIN2A):c.*3753C>G http://identifiers.org/clinvar/314211 ^@ NM_182894.2(VSX2):c.*261G>T http://identifiers.org/clinvar/321746 ^@ NM_002470.3(MYH3):c.2683-14C>A http://identifiers.org/clinvar/329333 ^@ NM_003573.2(LTBP4):c.*126G>T http://identifiers.org/clinvar/368600 ^@ NM_000032.4(ALAS2):c.416-11T>C http://identifiers.org/clinvar/329383 ^@ NM_001022.3(RPS19):c.-151G>T http://identifiers.org/clinvar/329583 ^@ NM_025136.3(OPA3):c.*5597C>T http://identifiers.org/clinvar/329783 ^@ NM_000554.5(CRX):c.*3301T>C http://identifiers.org/clinvar/329833 ^@ NM_002103.4(GYS1):c.-125C>T http://identifiers.org/clinvar/329883 ^@ NM_030973.3(MED25):c.1377C>T (p.Thr459=) http://identifiers.org/clinvar/329933 ^@ NM_024729.3(MYH14):c.3696C>T (p.Ala1232=) http://identifiers.org/clinvar/330133 ^@ NM_024075.4(TSEN34):c.*109A>G http://identifiers.org/clinvar/330283 ^@ NM_000064.3(C3):c.4457-5C>T http://identifiers.org/clinvar/330483 ^@ NM_020533.2(MCOLN1):c.-88G>T http://identifiers.org/clinvar/337709 ^@ NM_018848.3(MKKS):c.-649+6T>G http://identifiers.org/clinvar/338109 ^@ NM_015338.5(ASXL1):c.3378C>T (p.His1126=) http://identifiers.org/clinvar/338159 ^@ NM_006892.3(DNMT3B):c.922-8C>T http://identifiers.org/clinvar/329433 ^@ NM_152296.4(ATP1A3):c.15A>G (p.Lys5=) http://identifiers.org/clinvar/329533 ^@ NM_202001.2(ERCC1):c.948C>G (p.Thr316=) http://identifiers.org/clinvar/329683 ^@ NM_025136.3(OPA3):c.*80G>T http://identifiers.org/clinvar/330033 ^@ NM_144687.3(NLRP12):c.986G>A (p.Arg329Gln) http://identifiers.org/clinvar/330083 ^@ NM_002739.4(PRKCG):c.*596C>T http://identifiers.org/clinvar/330233 ^@ NM_175614.4(NDUFA11):c.*69_*70delGT http://identifiers.org/clinvar/330333 ^@ NM_000064.3(C3):c.819C>T (p.Phe273=) http://identifiers.org/clinvar/330433 ^@ NM_000208.3(INSR):c.*288delC http://identifiers.org/clinvar/330583 ^@ NM_030957.3(ADAMTS10):c.2530+9G>A http://identifiers.org/clinvar/337809 ^@ NM_024411.4(PDYN):c.*1394C>A http://identifiers.org/clinvar/337909 ^@ NM_198994.2(TGM6):c.727G>A (p.Gly243Ser) http://identifiers.org/clinvar/337959 ^@ NM_014588.5(VSX1):c.731A>G (p.His244Arg) http://identifiers.org/clinvar/338059 ^@ NM_033118.3(MYLK2):c.*654C>T http://identifiers.org/clinvar/338259 ^@ NM_032034.3(SLC4A11):c.290-6C>T http://identifiers.org/clinvar/341310 ^@ NM_012179.3(FBXO7):c.425C>G (p.Pro142Arg) http://identifiers.org/clinvar/341610 ^@ NM_006941.3(SOX10):c.*712G>T http://identifiers.org/clinvar/383310 ^@ NM_001458.4(FLNC):c.6957C>T (p.Ala2319=) http://identifiers.org/clinvar/383209 ^@ NM_001613.2(ACTA2):c.958A>C (p.Thr320Pro) http://identifiers.org/clinvar/390140 ^@ NM_002047.3(GARS):c.93G>A (p.Leu31=) http://identifiers.org/clinvar/386201 ^@ NM_001134363.2(RBM20):c.237G>A (p.Pro79=) http://identifiers.org/clinvar/391029 ^@ NM_005566.3(LDHA):c.*15A>G http://identifiers.org/clinvar/379374 ^@ NM_000264.3(PTCH1):c.585-1G>C http://identifiers.org/clinvar/389990 ^@ NM_152264.4(SLC39A13):c.*19C>T http://identifiers.org/clinvar/380264 ^@ NM_001613.2(ACTA2):c.455-18C>T http://identifiers.org/clinvar/389190 ^@ NM_001080449.2(DNA2):c.74+13G>C http://identifiers.org/clinvar/382959 ^@ NM_052845.3(MMAB):c.645-4C>T http://identifiers.org/clinvar/384562 ^@ NM_025215.5(PUS1):c.-46A>G http://identifiers.org/clinvar/379174 ^@ NM_000051.3(ATM):c.8526A>G (p.Pro2842=) http://identifiers.org/clinvar/380565 ^@ NM_024790.6(CSPP1):c.3205+13A>G http://identifiers.org/clinvar/385112 ^@ NM_000051.3(ATM):c.3746+17C>G http://identifiers.org/clinvar/380364 ^@ NM_000051.3(ATM):c.7516-5G>A http://identifiers.org/clinvar/386801 ^@ NM_213599.2(ANO5):c.1036A>C (p.Ile346Leu) http://identifiers.org/clinvar/386351 ^@ NM_001931.4(DLAT):c.675C>T (p.Ala225=) http://identifiers.org/clinvar/386151 ^@ NM_005188.3(CBL):c.1495C>A (p.Arg499=) http://identifiers.org/clinvar/385262 ^@ NM_004517.3(ILK):c.-109C>T http://identifiers.org/clinvar/391429 ^@ NM_017547.3(FOXRED1):c.536+9C>G http://identifiers.org/clinvar/378924 ^@ NM_005343.3(HRAS):c.162C>T (p.Asp54=) http://identifiers.org/clinvar/386501 ^@ NM_004183.3(BEST1):c.1054G>A (p.Ala352Thr) http://identifiers.org/clinvar/380214 ^@ NM_006231.3(POLE):c.4530A>G (p.Ala1510=) http://identifiers.org/clinvar/385062 ^@ NM_030962.3(SBF2):c.3979-4G>T http://identifiers.org/clinvar/389490 ^@ NM_001376.4(DYNC1H1):c.13372+15G>A http://identifiers.org/clinvar/383109 ^@ NM_032634.3(PIGO):c.2124G>A (p.Leu708=) http://identifiers.org/clinvar/384712 ^@ NM_006939.3(SOS2):c.3075+7C>T http://identifiers.org/clinvar/387351 ^@ NM_003239.4(TGFB3):c.647-12C>G http://identifiers.org/clinvar/384762 ^@ NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=) http://identifiers.org/clinvar/389440 ^@ NM_002206.2(ITGA7):c.1505+14G>C http://identifiers.org/clinvar/391479 ^@ NM_052867.2(NALCN):c.2008C>T (p.Gln670Ter) http://identifiers.org/clinvar/378622 ^@ NM_005902.3(SMAD3):c.798G>A (p.Ser266=) http://identifiers.org/clinvar/379124 ^@ NM_000059.3(BRCA2):c.516+17G>C http://identifiers.org/clinvar/388940 ^@ NM_001376.4(DYNC1H1):c.13218+18G>C http://identifiers.org/clinvar/391929 ^@ NM_000051.3(ATM):c.5005+15T>C http://identifiers.org/clinvar/392229 ^@ NM_004863.3(SPTLC2):c.300C>T (p.His100=) http://identifiers.org/clinvar/391129 ^@ NM_000218.2(KCNQ1):c.605-18C>G http://identifiers.org/clinvar/386651 ^@ NM_024675.3(PALB2):c.2587-16G>A http://identifiers.org/clinvar/381017 ^@ NM_001199107.1(TBC1D24):c.-15G>A http://identifiers.org/clinvar/388990 ^@ NM_001171.5(ABCC6):c.841A>G (p.Lys281Glu) http://identifiers.org/clinvar/378774 ^@ NM_000548.4(TSC2):c.1120-17C>T http://identifiers.org/clinvar/386301 ^@ NM_006231.3(POLE):c.204+8C>G http://identifiers.org/clinvar/48118 ^@ NM_000337.5(SGCD):c.390delA (p.Ala131Profs) http://identifiers.org/clinvar/48218 ^@ NM_194248.2(OTOF):c.3571-6C>A http://identifiers.org/clinvar/48268 ^@ NM_194248.2(OTOF):c.5713-2A>G http://identifiers.org/clinvar/48318 ^@ NM_198056.2(SCN5A):c.87A>G (p.Ala29=) http://identifiers.org/clinvar/48369 ^@ NM_206933.2(USH2A):c.11231+1G>T http://identifiers.org/clinvar/48419 ^@ NM_206933.2(USH2A):c.13440G>A (p.Arg4480=) http://identifiers.org/clinvar/48469 ^@ NM_206933.2(USH2A):c.1556A>G (p.Gln519Arg) http://identifiers.org/clinvar/48521 ^@ NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) http://identifiers.org/clinvar/214885 ^@ NM_025152.2(NUBPL):c.166G>A (p.Gly56Arg) http://identifiers.org/clinvar/61 ^@ NM_006642.3(SDCCAG8):c.679A>T (p.Lys227Ter) http://identifiers.org/clinvar/107 ^@ NM_017849.3(TMEM127):c.410-2A>C http://identifiers.org/clinvar/139 ^@ NM_033409.3(SLC52A3):c.1325_1326delTC (p.Leu442Argfs) http://identifiers.org/clinvar/148 ^@ NM_000274.3(OAT):c.550_552delGCT (p.Ala184del) http://identifiers.org/clinvar/289 ^@ NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) http://identifiers.org/clinvar/298 ^@ NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) http://identifiers.org/clinvar/373 ^@ NM_000267.3(NF1):c.2531T>G (p.Leu844Arg) http://identifiers.org/clinvar/537 ^@ NM_001142800.1(EYS):c.5857G>T (p.Glu1953Ter) http://identifiers.org/clinvar/569 ^@ NM_018344.5(SLC29A3):c.1346C>G (p.Thr449Arg) http://identifiers.org/clinvar/619 ^@ NM_000277.1(PAH):c.1162G>A (p.Val388Met) http://identifiers.org/clinvar/1079 ^@ NM_015272.4(RPGRIP1L):c.2413C>T (p.Arg805Ter) http://identifiers.org/clinvar/1158 ^@ NM_001166686.1(PFKM):c.496C>T (p.Arg166Ter) http://identifiers.org/clinvar/1202 ^@ NM_000429.2(MAT1A):c.966T>G (p.Ile322Met) http://identifiers.org/clinvar/1253 ^@ NM_022356.3(P3H1):c.1080+1G>T http://identifiers.org/clinvar/1299 ^@ DFNB59, 1-BP INS, 113T http://identifiers.org/clinvar/1343 ^@ CEP290, 5-BP DEL, 1260TAAAG http://identifiers.org/clinvar/1434 ^@ NM_001177317.1(SLC34A3):c.756G>A (p.Gln252=) http://identifiers.org/clinvar/1525 ^@ NM_000237.2(LPL):c.811T>A (p.Ser271Thr) http://identifiers.org/clinvar/1570 ^@ NM_000263.3(NAGLU):c.942C>G (p.Phe314Leu) http://identifiers.org/clinvar/1615 ^@ NM_014780.4(CUL7):c.4451_4452delTG (p.Val1484Glyfs) http://identifiers.org/clinvar/217761 ^@ NM_000787.3(DBH):c.301G>A (p.Val101Met) http://identifiers.org/clinvar/1757 ^@ NM_000251.2(MSH2):c.1786_1788delAAT (p.Asn596del) http://identifiers.org/clinvar/1806 ^@ NM_000102.3(CYP17A1):c.1358T>C (p.Phe453Ser) http://identifiers.org/clinvar/1851 ^@ NM_001193311.1(SUGCT):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/1897 ^@ NM_000060.4(BTD):c.1595C>T (p.Thr532Met) http://identifiers.org/clinvar/1941 ^@ NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) http://identifiers.org/clinvar/1987 ^@ NM_207361.5(FREM2):c.5914G>A (p.Glu1972Lys) http://identifiers.org/clinvar/2708 ^@ FERMT3, IVS13AS, A-G, -2 http://identifiers.org/clinvar/2753 ^@ LEMD3, 3-BP DEL/1-BP INS http://identifiers.org/clinvar/2799 ^@ NM_032520.4(GNPTG):c.316G>A (p.Gly106Ser) http://identifiers.org/clinvar/2843 ^@ NM_000019.3(ACAT1):c.278A>G (p.Asn93Ser) http://identifiers.org/clinvar/2934 ^@ NM_002076.3(GNS):c.1168C>T (p.Gln390Ter) http://identifiers.org/clinvar/3025 ^@ NM_000051.3(ATM):c.103C>T (p.Arg35Ter) http://identifiers.org/clinvar/3074 ^@ NM_000487.5(ARSA):c.739G>A (p.Gly247Arg) http://identifiers.org/clinvar/3121 ^@ NM_000218.2(KCNQ1):c.1022C>T (p.Ala341Val) http://identifiers.org/clinvar/3173 ^@ NM_000187.3(HGD):c.1102A>G (p.Met368Val) http://identifiers.org/clinvar/3219 ^@ NM_013382.5(POMT2):c.1006+1G>A http://identifiers.org/clinvar/3268 ^@ NM_024529.4(CDC73):c.25C>T (p.Arg9Ter) http://identifiers.org/clinvar/3312 ^@ NM_000383.3(AIRE):c.1513delG (p.Ala505Profs) http://identifiers.org/clinvar/3358 ^@ NM_006445.3(PRPF8):c.6901C>A (p.Pro2301Thr) http://identifiers.org/clinvar/10518 ^@ NM_000273.2(GPR143):c.695C>A (p.Thr232Lys) http://identifiers.org/clinvar/10608 ^@ NM_000133.3(F9):c.1058T>C (p.Val353Ala) http://identifiers.org/clinvar/10653 ^@ F9, -26G-C http://identifiers.org/clinvar/10744 ^@ NM_000169.2(GLA):c.1081G>C (p.Gly361Arg) http://identifiers.org/clinvar/10834 ^@ NM_004463.2(FGD1):c.1396A>G (p.Met466Val) http://identifiers.org/clinvar/10971 ^@ NM_000475.4(NR0B1):c.1142T>A (p.Leu381His) http://identifiers.org/clinvar/11015 ^@ PCDH19, 1-BP INS, 1091C http://identifiers.org/clinvar/11060 ^@ NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) http://identifiers.org/clinvar/11105 ^@ NM_000116.4(TAZ):c.589G>A (p.Gly197Arg) http://identifiers.org/clinvar/11150 ^@ NM_000390.3(CHM):c.1471G>T (p.Glu491Ter) http://identifiers.org/clinvar/11197 ^@ NM_139058.2(ARX):c.1028T>A (p.Leu343Gln) http://identifiers.org/clinvar/11241 ^@ NM_004006.2(DMD):c.691T>A (p.Tyr231Asn) http://identifiers.org/clinvar/11287 ^@ DMD, IVS25, A-G, +2036 http://identifiers.org/clinvar/11331 ^@ TBX22, IVS4DS, G-A, +1 http://identifiers.org/clinvar/11378 ^@ NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) http://identifiers.org/clinvar/11638 ^@ NM_006517.4(SLC16A2):c.1481T>C (p.Leu494Pro) http://identifiers.org/clinvar/11689 ^@ NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) http://identifiers.org/clinvar/11740 ^@ NM_000489.4(ATRX):c.20+1G>A http://identifiers.org/clinvar/11791 ^@ ATP7A, EX3-4 DEL http://identifiers.org/clinvar/11841 ^@ NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/11891 ^@ NM_000128.3(F11):c.403G>T (p.Glu135Ter) http://identifiers.org/clinvar/11941 ^@ BCKDHB, 8-BP INS, NT1109 http://identifiers.org/clinvar/11992 ^@ NM_002863.4(PYGL):c.1768+1G>A http://identifiers.org/clinvar/12043 ^@ NM_000136.2(FANCC):c.1661T>C (p.Leu554Pro) http://identifiers.org/clinvar/12093 ^@ NM_000196.3(HSD11B2):c.622C>T (p.Arg208Cys) http://identifiers.org/clinvar/12143 ^@ NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) http://identifiers.org/clinvar/12197 ^@ NM_014000.2(VCL):c.2923C>T (p.Arg975Trp) http://identifiers.org/clinvar/12249 ^@ CDH1, 1137G-A http://identifiers.org/clinvar/12299 ^@ UQCRB, 4-BP DEL, NT338 http://identifiers.org/clinvar/12351 ^@ NM_000546.5(TP53):c.215C>G (p.Pro72Arg) http://identifiers.org/clinvar/12402 ^@ NM_000548.4(TSC2):c.5238_5255del18 (p.His1746_Arg1751del) http://identifiers.org/clinvar/12454 ^@ NM_152263.3(TPM3):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/12504 ^@ NM_003242.5(TGFBR2):c.1524G>A (p.Gln508=) http://identifiers.org/clinvar/12554 ^@ NM_001128177.1(THRB):c.700G>A (p.Ala234Thr) http://identifiers.org/clinvar/12605 ^@ NM_005343.3(HRAS):c.350A>G (p.Lys117Arg) http://identifiers.org/clinvar/12655 ^@ NM_001256850.1(TTN):c.2228C>T (p.Ala743Val) http://identifiers.org/clinvar/12706 ^@ TG, IVS5DS, G-A, +1 http://identifiers.org/clinvar/12757 ^@ SURF1, 765C-T http://identifiers.org/clinvar/12807 ^@ NM_004959.4(NR5A1):c.390delG (p.Pro131Argfs) http://identifiers.org/clinvar/12857 ^@ NM_003126.2(SPTA1):c.620T>C (p.Leu207Pro) http://identifiers.org/clinvar/12908 ^@ NM_000343.3(SLC5A1):c.83A>G (p.Asp28Gly) http://identifiers.org/clinvar/12958 ^@ NM_001035.2(RYR2):c.7157A>T (p.Asn2386Ile) http://identifiers.org/clinvar/36644 ^@ NM_000432.3(MYL2):c.353+33C>G http://identifiers.org/clinvar/36696 ^@ NM_016203.3(PRKAG2):c.1593G>A (p.Arg531=) http://identifiers.org/clinvar/36749 ^@ NM_001035.2(RYR2):c.7488C>T (p.Leu2496=) http://identifiers.org/clinvar/36800 ^@ NM_000545.6(HNF1A):c.1323G>A (p.Thr441=) http://identifiers.org/clinvar/36850 ^@ NM_000458.3(HNF1B):c.511T>C (p.Trp171Arg) http://identifiers.org/clinvar/36901 ^@ NM_000551.3(VHL):c.340+5G>C http://identifiers.org/clinvar/36972 ^@ WNT10A, GLY95LYS http://identifiers.org/clinvar/37478 ^@ NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) http://identifiers.org/clinvar/37536 ^@ NM_007294.3(BRCA1):c.3652A>G (p.Ser1218Gly) http://identifiers.org/clinvar/37589 ^@ NM_007294.3(BRCA1):c.4391delC (p.Pro1464Leufs) http://identifiers.org/clinvar/37641 ^@ NM_007294.3(BRCA1):c.5152+10A>G http://identifiers.org/clinvar/37698 ^@ NM_007294.3(BRCA1):c.798_799delTT (p.Ser267Lysfs) http://identifiers.org/clinvar/38870 ^@ NM_000282.3(PCCA):c.937C>T (p.Arg313Ter) http://identifiers.org/clinvar/38932 ^@ NM_001363.4(DKC1):c.1050G>A (p.Met350Ile) http://identifiers.org/clinvar/38983 ^@ NM_004614.4(TK2):c.278A>G (p.Asn93Ser) http://identifiers.org/clinvar/39034 ^@ NM_024312.4(GNPTAB):c.1399delG (p.Asp467Ilefs) http://identifiers.org/clinvar/39084 ^@ NM_024312.4(GNPTAB):c.625_629delAGGGG (p.Arg209Leufs) http://identifiers.org/clinvar/39141 ^@ NM_198578.3(LRRK2):c.1847A>G (p.Lys616Arg) http://identifiers.org/clinvar/39191 ^@ NM_198578.3(LRRK2):c.4541G>A (p.Arg1514Gln) http://identifiers.org/clinvar/39241 ^@ NM_198578.3(LRRK2):c.7435A>G (p.Asn2479Asp) http://identifiers.org/clinvar/39292 ^@ NR_001566.1(TERC):n.35C>T http://identifiers.org/clinvar/39455 ^@ NM_001111.4(ADAR):c.2675G>A (p.Arg892His) http://identifiers.org/clinvar/39506 ^@ NM_003094.3(SNRPE):c.133G>A (p.Gly45Ser) http://identifiers.org/clinvar/39556 ^@ NM_019032.5(ADAMTSL4):c.826_836delCGTGCATCCCC (p.Arg276Serfs) http://identifiers.org/clinvar/39607 ^@ NM_014254.2(TMEM5):c.279delA (p.Gly94Glufs) http://identifiers.org/clinvar/39658 ^@ NM_000834.3(GRIN2B):c.1367G>A (p.Cys456Tyr) http://identifiers.org/clinvar/39710 ^@ NM_018486.2(HDAC8):c.490C>T (p.Arg164Ter) http://identifiers.org/clinvar/39761 ^@ NM_172107.3(KCNQ2):c.1636A>G (p.Met546Val) http://identifiers.org/clinvar/39811 ^@ NM_133497.3(KCNV2):c.442G>T (p.Glu148Ter) http://identifiers.org/clinvar/39862 ^@ NM_001080414.3(CCDC88C):c.5841_5842delAG (p.Glu1949Glyfs) http://identifiers.org/clinvar/40046 ^@ NM_006231.3(POLE):c.1270C>G (p.Leu424Val) http://identifiers.org/clinvar/40201 ^@ NM_000080.3(CHRNE):c.223T>C (p.Trp75Arg) http://identifiers.org/clinvar/40337 ^@ NM_004333.4(BRAF):c.78G>T (p.Glu26Asp) http://identifiers.org/clinvar/40412 ^@ NM_005188.3(CBL):c.1459A>G (p.Met487Val) http://identifiers.org/clinvar/40478 ^@ NM_002834.4(PTPN11):c.14+25G>C http://identifiers.org/clinvar/40537 ^@ NM_002834.4(PTPN11):c.933+11C>T http://identifiers.org/clinvar/40599 ^@ NM_002880.3(RAF1):c.768G>T (p.Arg256Ser) http://identifiers.org/clinvar/51146 ^@ NM_000059.3(BRCA2):c.1573A>T (p.Thr525Ser) http://identifiers.org/clinvar/51197 ^@ NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) http://identifiers.org/clinvar/51250 ^@ NM_000059.3(BRCA2):c.2150delG (p.Cys717Leufs) http://identifiers.org/clinvar/51300 ^@ NM_000059.3(BRCA2):c.2528C>T (p.Ala843Val) http://identifiers.org/clinvar/51351 ^@ NM_000059.3(BRCA2):c.2810_2811delAA (p.Gln937Argfs) http://identifiers.org/clinvar/51401 ^@ NM_000059.3(BRCA2):c.3122G>A (p.Ser1041Asn) http://identifiers.org/clinvar/51453 ^@ NM_000059.3(BRCA2):c.3362C>G (p.Ser1121Ter) http://identifiers.org/clinvar/51504 ^@ NM_000059.3(BRCA2):c.3680_3681delTG (p.Leu1227Glnfs) http://identifiers.org/clinvar/51554 ^@ NM_000059.3(BRCA2):c.3895_3897delGAA (p.Glu1299del) http://identifiers.org/clinvar/52266 ^@ NM_000059.3(BRCA2):c.7090G>A (p.Glu2364Lys) http://identifiers.org/clinvar/52317 ^@ NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) http://identifiers.org/clinvar/52367 ^@ NM_000059.3(BRCA2):c.7618-16T>G http://identifiers.org/clinvar/52418 ^@ NM_000059.3(BRCA2):c.7806-2A>G http://identifiers.org/clinvar/52468 ^@ NM_000059.3(BRCA2):c.8002A>T (p.Arg2668Ter) http://identifiers.org/clinvar/52518 ^@ NM_000059.3(BRCA2):c.8172_8175dupGTGG (p.Tyr2726Valfs) http://identifiers.org/clinvar/52569 ^@ NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) http://identifiers.org/clinvar/52619 ^@ NM_000059.3(BRCA2):c.8548G>A (p.Glu2850Lys) http://identifiers.org/clinvar/52721 ^@ NM_000059.3(BRCA2):c.8988_8990delATAinsTT (p.Leu2996Phefs) http://identifiers.org/clinvar/52772 ^@ NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) http://identifiers.org/clinvar/52823 ^@ NM_000059.3(BRCA2):c.9374T>A (p.Leu3125His) http://identifiers.org/clinvar/52874 ^@ NM_000059.3(BRCA2):c.9611C>G (p.Thr3204Ser) http://identifiers.org/clinvar/52924 ^@ NM_000059.3(BRCA2):c.994delA (p.Ile332Phefs) http://identifiers.org/clinvar/52974 ^@ NM_000218.2(KCNQ1):c.1265dupA (p.Phe423Valfs) http://identifiers.org/clinvar/53024 ^@ NM_000218.2(KCNQ1):c.1888C>G (p.Pro630Ala) http://identifiers.org/clinvar/53074 ^@ NM_000218.2(KCNQ1):c.577T>C (p.Phe193Leu) http://identifiers.org/clinvar/53125 ^@ NM_000218.2(KCNQ1):c.917G>T (p.Gly306Val) http://identifiers.org/clinvar/53177 ^@ NM_000492.3(CFTR):c.105dupA (p.Asp36Argfs) http://identifiers.org/clinvar/53228 ^@ NM_000492.3(CFTR):c.1322T>C (p.Leu441Pro) http://identifiers.org/clinvar/53280 ^@ NM_000492.3(CFTR):c.1538A>G (p.Asp513Gly) http://identifiers.org/clinvar/53331 ^@ NM_000492.3(CFTR):c.1679+1643G>T http://identifiers.org/clinvar/53381 ^@ NM_000492.3(CFTR):c.1766+73T>G http://identifiers.org/clinvar/53432 ^@ NM_000492.3(CFTR):c.2051_2052delAA (p.Lys684Thrfs) http://identifiers.org/clinvar/53486 ^@ NM_000492.3(CFTR):c.2411A>T (p.Glu804Val) http://identifiers.org/clinvar/53536 ^@ NM_000492.3(CFTR):c.2657+2_2657+3insA http://identifiers.org/clinvar/53586 ^@ NM_000492.3(CFTR):c.2883G>T (p.Met961Ile) http://identifiers.org/clinvar/53637 ^@ NM_000492.3(CFTR):c.303dupA (p.Leu102Thrfs) http://identifiers.org/clinvar/53689 ^@ NM_000492.3(CFTR):c.3229_3230delCT (p.Leu1077Valfs) http://identifiers.org/clinvar/53945 ^@ NM_000492.3(CFTR):c.43delC (p.Leu15Phefs) http://identifiers.org/clinvar/53995 ^@ NM_000492.3(CFTR):c.54-13C>G http://identifiers.org/clinvar/54045 ^@ NM_000492.3(CFTR):c.714delT (p.Leu240Terfs) http://identifiers.org/clinvar/54097 ^@ NM_000492.3(CFTR):c.987delA (p.Gly330Glufs) http://identifiers.org/clinvar/54147 ^@ NM_007294.3(BRCA1):c.114G>T (p.Lys38Asn) http://identifiers.org/clinvar/101191 ^@ NM_000090.3(COL3A1):c.547G>C (p.Gly183Arg) http://identifiers.org/clinvar/101241 ^@ NM_000090.3(COL3A1):c.1149+5G>A (p.Gly351_Pro383del) http://identifiers.org/clinvar/101291 ^@ NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg) http://identifiers.org/clinvar/101341 ^@ NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val) http://identifiers.org/clinvar/101391 ^@ NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del) http://identifiers.org/clinvar/101441 ^@ NM_000090.3(COL3A1):c.3544G>A (p.Gly1182Arg) http://identifiers.org/clinvar/101491 ^@ NM_000090.3(COL3A1):c.4286_4287delTT (p.Phe1429Terfs) http://identifiers.org/clinvar/111243 ^@ NM_005534.3(IFNGR2):c.413-59A>G http://identifiers.org/clinvar/120178 ^@ NM_004820.4(CYP7B1):c.260G>T (p.Gly87Val) http://identifiers.org/clinvar/125749 ^@ NM_007294.3(BRCA1):c.4987-92A>G http://identifiers.org/clinvar/125827 ^@ NM_007294.3(BRCA1):c.5332+4A>G http://identifiers.org/clinvar/125888 ^@ U14680.1:n.667-57delT http://identifiers.org/clinvar/125952 ^@ NM_000059.3(BRCA2):c.1668_1671delTTTAins3 http://identifiers.org/clinvar/126014 ^@ NM_000059.3(BRCA2):c.3458delA (p.Lys1153Argfs) http://identifiers.org/clinvar/126088 ^@ NM_000059.3(BRCA2):c.6058G>A (p.Glu2020Lys) http://identifiers.org/clinvar/126150 ^@ U43746.1:n.7830-16T>G http://identifiers.org/clinvar/126210 ^@ NM_000059.3(BRCA2):c.9384_9385insG (p.Pro3129Alafs) http://identifiers.org/clinvar/126268 ^@ NM_025114.3(CEP290):c.7210-22T>C http://identifiers.org/clinvar/126319 ^@ NM_020732.3(ARID1B):c.2038-35G>A http://identifiers.org/clinvar/126371 ^@ NM_022458.3(LMBR1):c.423+4915C>T http://identifiers.org/clinvar/126426 ^@ NM_005472.4(KCNE3):c.10A>G (p.Thr4Ala) http://identifiers.org/clinvar/126499 ^@ NM_003638.2(ITGA8):c.1622_1626delAGGTG (p.Glu541Alafs) http://identifiers.org/clinvar/126580 ^@ NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) http://identifiers.org/clinvar/126630 ^@ NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) http://identifiers.org/clinvar/126682 ^@ NM_024675.3(PALB2):c.2794G>A (p.Val932Met) http://identifiers.org/clinvar/126732 ^@ NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) http://identifiers.org/clinvar/126783 ^@ NM_024675.3(PALB2):c.999C>T (p.Thr333=) http://identifiers.org/clinvar/126834 ^@ NM_000321.2(RB1):c.1332+1G>A http://identifiers.org/clinvar/126888 ^@ NM_017545.2(HAO1):c.289+5965C>T http://identifiers.org/clinvar/126943 ^@ NM_001127464.2(ZNF469):c.5060G>A (p.Arg1687Lys) http://identifiers.org/clinvar/126993 ^@ NM_005732.3(RAD50):c.213+73A>C http://identifiers.org/clinvar/127043 ^@ NM_134424.3(RAD52):c.*468C>T http://identifiers.org/clinvar/127100 ^@ NM_001069.2(TUBB2A):c.741C>G (p.Asn247Lys) http://identifiers.org/clinvar/127167 ^@ NM_001101.3(ACTB):c.356T>C (p.Met119Thr) http://identifiers.org/clinvar/127266 ^@ NM_006620.3(HBS1L):c.-380A>C http://identifiers.org/clinvar/127317 ^@ NM_000038.5(APC):c.7088A>G (p.Lys2363Arg) http://identifiers.org/clinvar/127367 ^@ NM_000051.3(ATM):c.3175G>A (p.Ala1059Thr) http://identifiers.org/clinvar/127417 ^@ NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) http://identifiers.org/clinvar/127468 ^@ NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) http://identifiers.org/clinvar/159952 ^@ NM_006306.3(SMC1A):c.285C>G (p.Ala95=) http://identifiers.org/clinvar/159901 ^@ NM_006517.4(SLC16A2):c.979G>A (p.Gly327Arg) http://identifiers.org/clinvar/160375 ^@ NM_001039569.1(AP1S3):c.97C>T (p.Arg33Trp) http://identifiers.org/clinvar/160827 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 http://identifiers.org/clinvar/160880 ^@ GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 http://identifiers.org/clinvar/160931 ^@ GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 http://identifiers.org/clinvar/160982 ^@ GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 http://identifiers.org/clinvar/161033 ^@ GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 http://identifiers.org/clinvar/161083 ^@ GRCh38/hg38 14q32.33(chr14:106112755-106318409)x3 http://identifiers.org/clinvar/161133 ^@ NM_152296.4(ATP1A3):c.2263G>T (p.Gly755Cys) http://identifiers.org/clinvar/161215 ^@ NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) http://identifiers.org/clinvar/161315 ^@ NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) http://identifiers.org/clinvar/161265 ^@ NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) http://identifiers.org/clinvar/161365 ^@ NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) http://identifiers.org/clinvar/161423 ^@ NM_001519.3(BRF1):c.677C>T (p.Ser226Leu) http://identifiers.org/clinvar/161534 ^@ NM_001145277.1(NECAP2):c.462G>T (p.Glu154Asp) http://identifiers.org/clinvar/161634 ^@ NM_005398.6(PPP1R3C):c.458A>G (p.Gln153Arg) http://identifiers.org/clinvar/161484 ^@ NM_001005270.4(OR4C12):c.74C>T (p.Thr25Met) http://identifiers.org/clinvar/161584 ^@ NM_001819.2(CHGB):c.1308A>C (p.Glu436Asp) http://identifiers.org/clinvar/178913 ^@ NM_001256850.1(TTN):c.94071delA (p.Lys31357Asnfs) http://identifiers.org/clinvar/166000 ^@ NM_133378.4(TTN):c.44192C>T (p.Pro14731Leu) http://identifiers.org/clinvar/165853 ^@ NM_133378.4(TTN):c.63628G>A (p.Ala21210Thr) http://identifiers.org/clinvar/166506 ^@ NM_206933.2(USH2A):c.4030A>G (p.Met1344Val) http://identifiers.org/clinvar/180002 ^@ NM_133378.4(TTN):c.51377G>A (p.Cys17126Tyr) http://identifiers.org/clinvar/165950 ^@ NM_001256850.1(TTN):c.53010T>C (p.Asp17670=) http://identifiers.org/clinvar/166140 ^@ NM_133378.4(TTN):c.23944T>C (p.Cys7982Arg) http://identifiers.org/clinvar/178244 ^@ NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) http://identifiers.org/clinvar/166256 ^@ NM_001256850.1(TTN):c.10361-5598C>T http://identifiers.org/clinvar/166306 ^@ NM_001256850.1(TTN):c.8069C>T (p.Thr2690Ile) http://identifiers.org/clinvar/166590 ^@ NM_006005.3(WFS1):c.1491C>T (p.Val497=) http://identifiers.org/clinvar/179013 ^@ NM_004415.3(DSP):c.3507C>T (p.Tyr1169=) http://identifiers.org/clinvar/178594 ^@ NM_006005.3(WFS1):c.1674C>T (p.Arg558=) http://identifiers.org/clinvar/178963 ^@ NM_004333.4(BRAF):c.622A>G (p.Ile208Val) http://identifiers.org/clinvar/199066 ^@ NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) http://identifiers.org/clinvar/199120 ^@ NM_006204.3(PDE6C):c.1266C>T (p.Thr422=) http://identifiers.org/clinvar/199171 ^@ NM_024596.4(MCPH1):c.1930A>G (p.Lys644Glu) http://identifiers.org/clinvar/199227 ^@ NM_033071.3(SYNE1):c.17614T>C (p.Ser5872Pro) http://identifiers.org/clinvar/201222 ^@ NM_001035.2(RYR2):c.1775G>A (p.Gly592Glu) http://identifiers.org/clinvar/201167 ^@ NM_001035.2(RYR2):c.3720C>T (p.Ala1240=) http://identifiers.org/clinvar/199728 ^@ NM_000090.3(COL3A1):c.2132G>T (p.Gly711Val) http://identifiers.org/clinvar/199837 ^@ NM_004415.3(DSP):c.1731G>A (p.Met577Ile) http://identifiers.org/clinvar/199894 ^@ NM_004415.3(DSP):c.5821A>G (p.Lys1941Glu) http://identifiers.org/clinvar/200260 ^@ NM_000238.3(KCNH2):c.3331-14delT http://identifiers.org/clinvar/200801 ^@ NM_000238.3(KCNH2):c.3107delG (p.Gly1036Alafs) http://identifiers.org/clinvar/200682 ^@ NM_000238.3(KCNH2):c.2792delC (p.Pro931Argfs) http://identifiers.org/clinvar/200407 ^@ NM_000238.3(KCNH2):c.2104C>T (p.Gln702Ter) http://identifiers.org/clinvar/200575 ^@ NM_000238.3(KCNH2):c.275G>T (p.Arg92Leu) http://identifiers.org/clinvar/199669 ^@ NM_001613.2(ACTA2):c.344A>G (p.Lys115Arg) http://identifiers.org/clinvar/200857 ^@ NM_000218.2(KCNQ1):c.1772G>T (p.Arg591Leu) http://identifiers.org/clinvar/200981 ^@ NM_130799.2(MEN1):c.784-9G>A http://identifiers.org/clinvar/200120 ^@ NM_000138.4(FBN1):c.7775G>A (p.Cys2592Tyr) http://identifiers.org/clinvar/199950 ^@ NM_000138.4(FBN1):c.5917+3A>G http://identifiers.org/clinvar/200064 ^@ NM_000138.4(FBN1):c.5443G>A (p.Gly1815Ser) http://identifiers.org/clinvar/200009 ^@ NM_000138.4(FBN1):c.3013G>A (p.Glu1005Lys) http://identifiers.org/clinvar/200176 ^@ NM_000138.4(FBN1):c.225delT (p.Gly76Alafs) http://identifiers.org/clinvar/201048 ^@ NM_002474.2(MYH11):c.988G>A (p.Val330Met) http://identifiers.org/clinvar/201101 ^@ NM_002474.2(MYH11):c.769G>A (p.Val257Met) http://identifiers.org/clinvar/199782 ^@ NM_024422.4(DSC2):c.1123C>G (p.Arg375Gly) http://identifiers.org/clinvar/200918 ^@ NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) http://identifiers.org/clinvar/203110 ^@ NM_001256850.1(TTN):c.102071A>G (p.Lys34024Arg) http://identifiers.org/clinvar/202339 ^@ NM_001256850.1(TTN):c.98653G>C (p.Glu32885Gln) http://identifiers.org/clinvar/203060 ^@ NM_001256850.1(TTN):c.95659A>G (p.Lys31887Glu) http://identifiers.org/clinvar/203010 ^@ NM_001256850.1(TTN):c.90140T>C (p.Leu30047Ser) http://identifiers.org/clinvar/202960 ^@ NM_001256850.1(TTN):c.84793G>A (p.Asp28265Asn) http://identifiers.org/clinvar/202910 ^@ NM_001256850.1(TTN):c.77000T>C (p.Val25667Ala) http://identifiers.org/clinvar/202860 ^@ NM_001256850.1(TTN):c.70328G>A (p.Arg23443Gln) http://identifiers.org/clinvar/202810 ^@ NM_001256850.1(TTN):c.62486T>C (p.Ile20829Thr) http://identifiers.org/clinvar/232288 ^@ NM_000038.5(APC):c.7731A>G (p.Ser2577=) http://identifiers.org/clinvar/231888 ^@ NM_005732.3(RAD50):c.885+5G>A http://identifiers.org/clinvar/232488 ^@ NM_000535.6(PMS2):c.1084A>T (p.Met362Leu) http://identifiers.org/clinvar/232388 ^@ NM_002485.4(NBN):c.1086A>G (p.Thr362=) http://identifiers.org/clinvar/229749 ^@ NM_000314.6(PTEN):c.97_98delAT (p.Ile33Cysfs) http://identifiers.org/clinvar/232188 ^@ NM_000051.3(ATM):c.479C>T (p.Ser160Phe) http://identifiers.org/clinvar/232238 ^@ NM_000051.3(ATM):c.1009C>A (p.Arg337Ser) http://identifiers.org/clinvar/231688 ^@ NM_000051.3(ATM):c.1803-4G>A http://identifiers.org/clinvar/233578 ^@ NM_000051.3(ATM):c.2281A>G (p.Thr761Ala) http://identifiers.org/clinvar/233478 ^@ NM_000051.3(ATM):c.2330G>A (p.Arg777Lys) http://identifiers.org/clinvar/232689 ^@ NM_000051.3(ATM):c.3080A>C (p.His1027Pro) http://identifiers.org/clinvar/234231 ^@ NM_000051.3(ATM):c.5777C>T (p.Thr1926Ile) http://identifiers.org/clinvar/233931 ^@ NM_000051.3(ATM):c.6100C>A (p.Arg2034=) http://identifiers.org/clinvar/231638 ^@ NM_003002.3(SDHD):c.340T>A (p.Tyr114Asn) http://identifiers.org/clinvar/231838 ^@ NM_005591.3(MRE11):c.186T>C (p.Phe62=) http://identifiers.org/clinvar/233378 ^@ NM_000059.3(BRCA2):c.3263C>T (p.Pro1088Leu) http://identifiers.org/clinvar/233728 ^@ NM_000059.3(BRCA2):c.5021G>C (p.Ser1674Thr) http://identifiers.org/clinvar/233780 ^@ NM_000059.3(BRCA2):c.5630delA (p.Asn1877Thrfs) http://identifiers.org/clinvar/232138 ^@ NM_000059.3(BRCA2):c.7082A>T (p.His2361Leu) http://identifiers.org/clinvar/229899 ^@ NM_000059.3(BRCA2):c.7506C>G (p.Arg2502=) http://identifiers.org/clinvar/233628 ^@ NM_000059.3(BRCA2):c.9093_9094delAAinsG (p.Thr3033Leufs) http://identifiers.org/clinvar/231588 ^@ NM_000059.3(BRCA2):c.9559A>G (p.Asn3187Asp) http://identifiers.org/clinvar/230888 ^@ NM_000059.3(BRCA2):c.9904A>G (p.Arg3302Gly) http://identifiers.org/clinvar/232438 ^@ NM_000059.3(BRCA2):c.10053T>A (p.Ala3351=) http://identifiers.org/clinvar/229799 ^@ NM_000548.4(TSC2):c.1958G>A (p.Arg653Lys) http://identifiers.org/clinvar/233428 ^@ NM_000548.4(TSC2):c.2856C>A (p.Pro952=) http://identifiers.org/clinvar/231438 ^@ NM_024675.3(PALB2):c.2849C>T (p.Ser950Phe) http://identifiers.org/clinvar/231788 ^@ NM_024675.3(PALB2):c.2403C>G (p.Asp801Glu) http://identifiers.org/clinvar/233328 ^@ NM_024675.3(PALB2):c.2167A>T (p.Met723Leu) http://identifiers.org/clinvar/233528 ^@ NM_024675.3(PALB2):c.347T>A (p.Leu116Ter) http://identifiers.org/clinvar/233981 ^@ NM_024675.3(PALB2):c.330A>G (p.Gly110=) http://identifiers.org/clinvar/234181 ^@ NM_004360.4(CDH1):c.1707C>A (p.Asp569Glu) http://identifiers.org/clinvar/233830 ^@ NM_004360.4(CDH1):c.1983T>C (p.Gly661=) http://identifiers.org/clinvar/232639 ^@ NM_001042492.2(NF1):c.176C>G (p.Thr59Ser) http://identifiers.org/clinvar/231988 ^@ NM_001042492.2(NF1):c.4942A>G (p.Thr1648Ala) http://identifiers.org/clinvar/229699 ^@ NM_001042492.2(NF1):c.5004C>G (p.Gly1668=) http://identifiers.org/clinvar/230938 ^@ NM_001042492.2(NF1):c.5812+1G>A http://identifiers.org/clinvar/231338 ^@ NM_002878.3(RAD51D):c.869G>A (p.Arg290Gln) http://identifiers.org/clinvar/232038 ^@ NM_002878.3(RAD51D):c.480+3A>G http://identifiers.org/clinvar/231938 ^@ NM_002878.3(RAD51D):c.433C>T (p.Arg145Cys) http://identifiers.org/clinvar/234081 ^@ NM_002878.3(RAD51D):c.335G>C (p.Gly112Ala) http://identifiers.org/clinvar/232538 ^@ NM_007194.3(CHEK2):c.1367C>T (p.Ser456Leu) http://identifiers.org/clinvar/233678 ^@ NM_007194.3(CHEK2):c.1076A>G (p.Glu359Gly) http://identifiers.org/clinvar/231538 ^@ NM_007194.3(CHEK2):c.399A>G (p.Thr133=) http://identifiers.org/clinvar/242391 ^@ NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) http://identifiers.org/clinvar/238834 ^@ NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val) http://identifiers.org/clinvar/238784 ^@ NM_001267550.2(TTN):c.45779T>C (p.Leu15260Pro) http://identifiers.org/clinvar/238734 ^@ NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val) http://identifiers.org/clinvar/239827 ^@ NM_004304.4(ALK):c.3600G>C (p.Ala1200=) http://identifiers.org/clinvar/240678 ^@ NM_006514.3(SCN10A):c.4663A>T (p.Ile1555Phe) http://identifiers.org/clinvar/240278 ^@ NM_006030.3(CACNA2D2):c.3393G>A (p.Pro1131=) http://identifiers.org/clinvar/240328 ^@ NM_006206.4(PDGFRA):c.231C>T (p.Asn77=) http://identifiers.org/clinvar/240228 ^@ NM_005732.3(RAD50):c.2756T>C (p.Leu919Ser) http://identifiers.org/clinvar/239677 ^@ NM_004168.3(SDHA):c.622-5T>C http://identifiers.org/clinvar/239627 ^@ NM_004100.4(EYA4):c.1671G>A (p.Ala557=) http://identifiers.org/clinvar/238634 ^@ NM_001206927.1(DNAH8):c.12264C>T (p.Asp4088=) http://identifiers.org/clinvar/262766 ^@ NM_153717.2(EVC):c.1464+20T>C http://identifiers.org/clinvar/260677 ^@ NM_015697.7(COQ2):c.30G>A (p.Arg10=) http://identifiers.org/clinvar/262466 ^@ NM_139281.2(WDR36):c.790A>G (p.Ile264Val) http://identifiers.org/clinvar/257987 ^@ NM_001369.2(DNAH5):c.1198-24C>A http://identifiers.org/clinvar/258037 ^@ NM_001369.2(DNAH5):c.507G>A (p.Ser169=) http://identifiers.org/clinvar/263016 ^@ NM_182925.4(FLT4):c.1103+18C>T http://identifiers.org/clinvar/263066 ^@ NM_182925.4(FLT4):c.59-24C>T http://identifiers.org/clinvar/254738 ^@ NM_000046.3(ARSB):c.123C>A (p.Ala41=) http://identifiers.org/clinvar/262416 ^@ NM_138694.3(PKHD1):c.8022G>T (p.Leu2674=) http://identifiers.org/clinvar/258337 ^@ NM_001851.4(COL9A1):c.1066-3T>C http://identifiers.org/clinvar/258137 ^@ NM_001458.4(FLNC):c.2390-14C>T http://identifiers.org/clinvar/257887 ^@ NM_001277115.1(DNAH11):c.3853-16T>A http://identifiers.org/clinvar/257937 ^@ NM_001277115.1(DNAH11):c.8829T>C (p.Asp2943=) http://identifiers.org/clinvar/258537 ^@ NM_002047.3(GARS):c.659-43C>A http://identifiers.org/clinvar/263116 ^@ NM_198428.2(BBS9):c.1284C>T (p.Thr428=) http://identifiers.org/clinvar/261966 ^@ NM_031443.3(CCM2):c.204+37C>T http://identifiers.org/clinvar/260927 ^@ NM_017802.3(DNAAF5):c.1410G>A (p.Pro470=) http://identifiers.org/clinvar/260177 ^@ NM_012082.3(ZFPM2):c.302-13C>T http://identifiers.org/clinvar/260277 ^@ NM_012472.5(LRRC6):c.609C>T (p.Asn203=) http://identifiers.org/clinvar/259977 ^@ NM_006412.3(AGPAT2):c.49_51dupCTG (p.Leu17_Val18insLeu) http://identifiers.org/clinvar/260127 ^@ NM_007126.3(VCP):c.577-21_577-18delCTTT http://identifiers.org/clinvar/260377 ^@ NM_014290.2(TDRD7):c.1800T>C (p.Cys600=) http://identifiers.org/clinvar/257337 ^@ NM_001080114.1(LDB3):c.322-50G>C http://identifiers.org/clinvar/260727 ^@ NM_016341.3(PLCE1):c.5670G>A (p.Pro1890=) http://identifiers.org/clinvar/260477 ^@ NM_014956.4(CEP164):c.194+13G>T http://identifiers.org/clinvar/260027 ^@ NM_006757.3(TNNT3):c.367-9T>C http://identifiers.org/clinvar/263316 ^@ NM_213599.2(ANO5):c.604G>A (p.Glu202Lys) http://identifiers.org/clinvar/261027 ^@ NM_018389.4(SLC35C1):c.536-32A>G http://identifiers.org/clinvar/262816 ^@ NM_172364.4(CACNA2D4):c.2746G>A (p.Asp916Asn) http://identifiers.org/clinvar/258237 ^@ NM_001844.4(COL2A1):c.4095T>C (p.Asn1365=) http://identifiers.org/clinvar/258587 ^@ NM_002206.2(ITGA7):c.459C>G (p.Ile153Met) http://identifiers.org/clinvar/258837 ^@ NM_002863.4(PYGL):c.2177+34T>C http://identifiers.org/clinvar/257187 ^@ NM_001034852.2(SMOC1):c.1161C>T (p.Phe387=) http://identifiers.org/clinvar/262516 ^@ NM_144596.3(TTC8):c.329+48T>C http://identifiers.org/clinvar/262666 ^@ NM_152594.2(SPRED1):c.207+37A>G http://identifiers.org/clinvar/257637 ^@ NM_001211.5(BUB1B):c.282G>A (p.Lys94=) http://identifiers.org/clinvar/260327 ^@ NM_014080.4(DUOX2):c.4479C>G (p.Pro1493=) http://identifiers.org/clinvar/335713 ^@ NM_004304.4(ALK):c.507T>C (p.Asn169=) http://identifiers.org/clinvar/333022 ^@ NM_002500.4(NEUROD1):c.*1033T>G http://identifiers.org/clinvar/335963 ^@ NM_005633.3(SOS1):c.*4265A>G http://identifiers.org/clinvar/336013 ^@ NM_005633.3(SOS1):c.*223C>T http://identifiers.org/clinvar/332972 ^@ NM_133378.4(TTN):c.583+4C>T http://identifiers.org/clinvar/333372 ^@ NM_001006657.1(WDR35):c.3059C>G (p.Thr1020Arg) http://identifiers.org/clinvar/333422 ^@ NM_002381.4(MATN3):c.671G>A (p.Arg224Gln) http://identifiers.org/clinvar/336263 ^@ NM_001430.4(EPAS1):c.1228G>A (p.Ala410Thr) http://identifiers.org/clinvar/333522 ^@ NM_001228.4(CASP8):c.*591T>C http://identifiers.org/clinvar/336313 ^@ NM_001430.4(EPAS1):c.*1276G>A http://identifiers.org/clinvar/335613 ^@ NM_001029883.2(C2orf71):c.*1065A>G http://identifiers.org/clinvar/333272 ^@ NM_007315.3(STAT1):c.1347+8T>G http://identifiers.org/clinvar/335663 ^@ NM_001029883.2(C2orf71):c.1382T>C (p.Ile461Thr) http://identifiers.org/clinvar/333672 ^@ NM_001204.6(BMPR2):c.*1466T>G http://identifiers.org/clinvar/333722 ^@ NM_001204.6(BMPR2):c.*6695C>T http://identifiers.org/clinvar/336570 ^@ NM_001135659.2(NRXN1):c.-602G>A http://identifiers.org/clinvar/335913 ^@ NM_000104.3(CYP1B1):c.*2333G>A http://identifiers.org/clinvar/333922 ^@ NM_015040.3(PIKFYVE):c.4629A>G (p.Ala1543=) http://identifiers.org/clinvar/336920 ^@ NM_001692.3(ATP6V1B1):c.926A>G (p.Glu309Gly) http://identifiers.org/clinvar/337070 ^@ NM_004082.4(DCTN1):c.3594C>T (p.Thr1198=) http://identifiers.org/clinvar/333822 ^@ NM_014929.3(FASTKD2):c.*1159G>A http://identifiers.org/clinvar/334023 ^@ NM_001875.4(CPS1):c.1478C>T (p.Thr493Ile) http://identifiers.org/clinvar/333972 ^@ NM_015040.3(PIKFYVE):c.*2495A>G http://identifiers.org/clinvar/334073 ^@ NM_000384.2(APOB):c.12983A>G (p.Tyr4328Cys) http://identifiers.org/clinvar/336620 ^@ NM_001039348.2(EFEMP1):c.*146T>A http://identifiers.org/clinvar/336670 ^@ NM_002618.3(PEX13):c.1078C>G (p.Leu360Val) http://identifiers.org/clinvar/336970 ^@ NM_003494.3(DYSF):c.4071C>T (p.Leu1357=) http://identifiers.org/clinvar/334474 ^@ NM_015311.2(OBSL1):c.4440C>T (p.Ala1480=) http://identifiers.org/clinvar/342760 ^@ NM_000187.3(HGD):c.-221G>A http://identifiers.org/clinvar/342260 ^@ NM_033084.4(FANCD2):c.1137G>T (p.Val379=) http://identifiers.org/clinvar/342360 ^@ NM_016247.3(IMPG2):c.34C>G (p.Leu12Val) http://identifiers.org/clinvar/342460 ^@ NM_000551.3(VHL):c.*2090delT http://identifiers.org/clinvar/342510 ^@ NM_000551.3(VHL):c.*3616C>T http://identifiers.org/clinvar/335563 ^@ NM_144631.5(ZNF513):c.-51C>T http://identifiers.org/clinvar/342610 ^@ NM_000796.5(DRD3):c.-286A>C http://identifiers.org/clinvar/342660 ^@ NM_020754.3(ARHGAP31):c.2568G>A (p.Gly856=) http://identifiers.org/clinvar/335813 ^@ NM_000348.3(SRD5A2):c.*90_*91delCCinsATATATATATATATATATATATATATATATATATATAT http://identifiers.org/clinvar/335513 ^@ NM_000221.2(KHK):c.*580T>C http://identifiers.org/clinvar/336063 ^@ NM_022437.2(ABCG8):c.94A>G (p.Ser32Gly) http://identifiers.org/clinvar/335763 ^@ NM_000379.3(XDH):c.3249C>T (p.Ser1083=) http://identifiers.org/clinvar/357405 ^@ NM_138694.3(PKHD1):c.11507-12delT http://identifiers.org/clinvar/354615 ^@ NM_000439.4(PCSK1):c.*1733G>A http://identifiers.org/clinvar/357605 ^@ NM_001723.5(DST):c.1989T>C (p.Ile663=) http://identifiers.org/clinvar/357655 ^@ NM_000129.3(F13A1):c.*627G>A http://identifiers.org/clinvar/354915 ^@ NM_007214.4(SEC63):c.340-12dupG http://identifiers.org/clinvar/351068 ^@ NM_001369.2(DNAH5):c.6791G>A (p.Ser2264Asn) http://identifiers.org/clinvar/351218 ^@ NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) http://identifiers.org/clinvar/355065 ^@ NM_003880.3(WISP3):c.807A>G (p.Gln269=) http://identifiers.org/clinvar/355166 ^@ NM_000165.4(GJA1):c.*163G>A http://identifiers.org/clinvar/355216 ^@ NM_006073.3(TRDN):c.1092A>C (p.Lys364Asn) http://identifiers.org/clinvar/351368 ^@ NM_001018077.1(NR3C1):c.1764C>T (p.His588=) http://identifiers.org/clinvar/355416 ^@ NM_006208.2(ENPP1):c.*3468delT http://identifiers.org/clinvar/355466 ^@ NM_172105.3(EYA4):c.*2269C>T http://identifiers.org/clinvar/351468 ^@ NM_054027.4(ANKH):c.*1271A>C http://identifiers.org/clinvar/355566 ^@ NM_000416.2(IFNGR1):c.-72C>T http://identifiers.org/clinvar/351568 ^@ NM_024577.3(SH3TC2):c.*22199C>T http://identifiers.org/clinvar/351518 ^@ NM_006846.3(SPINK5):c.739C>T (p.Arg247Cys) http://identifiers.org/clinvar/355766 ^@ NM_203395.2(IYD):c.*4676_*4677insGGGGGTGATTCACCT http://identifiers.org/clinvar/351768 ^@ NM_024577.3(SH3TC2):c.*7391A>C http://identifiers.org/clinvar/351618 ^@ NM_024577.3(SH3TC2):c.*17317G>A http://identifiers.org/clinvar/351668 ^@ NM_024577.3(SH3TC2):c.*13598A>G http://identifiers.org/clinvar/351918 ^@ NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) http://identifiers.org/clinvar/351718 ^@ NM_024577.3(SH3TC2):c.*10105C>T http://identifiers.org/clinvar/352018 ^@ NM_000112.3(SLC26A2):c.-163T>C http://identifiers.org/clinvar/351968 ^@ NM_000440.2(PDE6A):c.*938A>C http://identifiers.org/clinvar/359694 ^@ NM_001277115.1(DNAH11):c.13162+12C>T http://identifiers.org/clinvar/359944 ^@ NM_005522.4(HOXA1):c.*1150C>T http://identifiers.org/clinvar/356705 ^@ NM_002098.5(GUCA1B):c.*1018C>T http://identifiers.org/clinvar/352426 ^@ NM_000337.5(SGCD):c.*6660delA http://identifiers.org/clinvar/352526 ^@ NM_001099287.1(NIPAL4):c.*79C>T http://identifiers.org/clinvar/360244 ^@ NM_000168.5(GLI3):c.1647+13G>A http://identifiers.org/clinvar/360344 ^@ NM_014855.2(AP5Z1):c.2047C>A (p.Gln683Lys) http://identifiers.org/clinvar/357055 ^@ NM_020745.3(AARS2):c.2871A>G (p.Ser957=) http://identifiers.org/clinvar/352726 ^@ NM_001017995.2(SH3PXD2B):c.*4828T>A http://identifiers.org/clinvar/360444 ^@ NM_000790.3(DDC):c.6C>T (p.Asn2=) http://identifiers.org/clinvar/352776 ^@ NM_001017995.2(SH3PXD2B):c.*1246G>A http://identifiers.org/clinvar/357155 ^@ NM_012120.2(CD2AP):c.-267G>A http://identifiers.org/clinvar/357205 ^@ NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTGTGTG http://identifiers.org/clinvar/353076 ^@ NM_014244.4(ADAMTS2):c.*445G>A http://identifiers.org/clinvar/357255 ^@ NM_000255.3(MUT):c.1808+15T>C http://identifiers.org/clinvar/357355 ^@ NM_138694.3(PKHD1):c.*3520T>C http://identifiers.org/clinvar/353126 ^@ NM_014244.4(ADAMTS2):c.1069G>A (p.Asp357Asn) http://identifiers.org/clinvar/357505 ^@ NM_018100.3(EFHC1):c.*1025_*1044dup20 http://identifiers.org/clinvar/353176 ^@ NM_003900.4(SQSTM1):c.*539T>G http://identifiers.org/clinvar/357555 ^@ NM_001723.5(DST):c.6633A>G (p.Ala2211=) http://identifiers.org/clinvar/353226 ^@ NM_014324.5(AMACR):c.*1942C>T http://identifiers.org/clinvar/357705 ^@ NM_001142800.1(EYS):c.5409A>G (p.Ser1803=) http://identifiers.org/clinvar/357905 ^@ NM_012434.4(SLC17A5):c.*1332delT http://identifiers.org/clinvar/358155 ^@ NM_022726.3(ELOVL4):c.-235C>T http://identifiers.org/clinvar/299985 ^@ NM_002900.2(RBP3):c.1207G>A (p.Ala403Thr) http://identifiers.org/clinvar/300035 ^@ NM_000124.3(ERCC6):c.4391G>C (p.Cys1464Ser) http://identifiers.org/clinvar/307189 ^@ NM_001681.3(ATP2A2):c.*40G>A http://identifiers.org/clinvar/300585 ^@ NM_004273.4(CHST3):c.*855A>C http://identifiers.org/clinvar/307689 ^@ NM_004064.4(CDKN1B):c.*980G>A http://identifiers.org/clinvar/307789 ^@ NM_006205.2(PDE6H):c.*358T>G http://identifiers.org/clinvar/300985 ^@ NM_007055.3(POLR3A):c.*2039C>T http://identifiers.org/clinvar/308039 ^@ NM_005691.3(ABCC9):c.1670C>G (p.Thr557Ser) http://identifiers.org/clinvar/308089 ^@ NM_004985.4(KRAS):c.*2279dupT http://identifiers.org/clinvar/301185 ^@ NM_000429.2(MAT1A):c.952-9T>C http://identifiers.org/clinvar/301135 ^@ NM_001002295.1(GATA3):c.*267G>A http://identifiers.org/clinvar/308489 ^@ NM_004572.3(PKP2):c.*607A>C http://identifiers.org/clinvar/301285 ^@ NM_033100.3(CDHR1):c.*937C>T http://identifiers.org/clinvar/301335 ^@ NM_001080116.1(LDB3):c.548+7G>A http://identifiers.org/clinvar/298346 ^@ NM_000195.4(HPS1):c.692C>T (p.Pro231Leu) http://identifiers.org/clinvar/365993 ^@ NM_024757.4(EHMT1):c.324C>T (p.His108=) http://identifiers.org/clinvar/298446 ^@ NM_000392.4(ABCC2):c.1058G>A (p.Arg353His) http://identifiers.org/clinvar/309578 ^@ NM_000424.3(KRT5):c.-73T>C http://identifiers.org/clinvar/365893 ^@ NM_019892.5(INPP5E):c.136G>A (p.Glu46Lys) http://identifiers.org/clinvar/365943 ^@ NM_016219.4(MAN1B1):c.41C>T (p.Ser14Phe) http://identifiers.org/clinvar/309978 ^@ NM_000075.3(CDK4):c.747T>C (p.Phe249=) http://identifiers.org/clinvar/302474 ^@ NM_001931.4(DLAT):c.*1109C>T http://identifiers.org/clinvar/366093 ^@ NM_144966.5(FREM1):c.*341dupA http://identifiers.org/clinvar/302524 ^@ NM_001680.4(FXYD2):c.76G>A (p.Val26Ile) http://identifiers.org/clinvar/366193 ^@ NM_003070.4(SMARCA2):c.97C>T (p.Pro33Ser) http://identifiers.org/clinvar/310378 ^@ NM_173353.3(TPH2):c.122C>A (p.Ser41Tyr) http://identifiers.org/clinvar/302774 ^@ NM_005188.3(CBL):c.-41C>T http://identifiers.org/clinvar/314411 ^@ NM_017791.2(FLVCR2):c.329_334delACATCT (p.Asn110_Phe112delinsIle) http://identifiers.org/clinvar/312722 ^@ NM_022489.3(INF2):c.*544G>A http://identifiers.org/clinvar/314711 ^@ NM_000369.2(TSHR):c.*909C>T http://identifiers.org/clinvar/313022 ^@ NM_025152.2(NUBPL):c.285C>T (p.Asn95=) http://identifiers.org/clinvar/322446 ^@ NM_003593.2(FOXN1):c.*461C>T http://identifiers.org/clinvar/322496 ^@ NM_178170.2(NEK8):c.*420C>T http://identifiers.org/clinvar/315011 ^@ NM_000295.4(SERPINA1):c.*725G>A http://identifiers.org/clinvar/315111 ^@ NM_177438.2(DICER1):c.915C>T (p.Asp305=) http://identifiers.org/clinvar/322996 ^@ NM_001004334.3(GPR179):c.3569G>A (p.Arg1190Gln) http://identifiers.org/clinvar/341760 ^@ NM_022098.3(XPNPEP3):c.*5915delT http://identifiers.org/clinvar/341810 ^@ NM_001429.3(EP300):c.4908C>T (p.Asp1636=) http://identifiers.org/clinvar/341960 ^@ NM_025225.2(PNPLA3):c.*988_*989dupAA http://identifiers.org/clinvar/323296 ^@ NM_000263.3(NAGLU):c.683G>A (p.Arg228Gln) http://identifiers.org/clinvar/342060 ^@ NM_024105.3(ALG12):c.99G>A (p.Val33=) http://identifiers.org/clinvar/342160 ^@ NM_005198.4(CHKB):c.*216C>G http://identifiers.org/clinvar/314061 ^@ NM_031427.3(DNAL1):c.*2541C>T http://identifiers.org/clinvar/367961 ^@ NM_003413.3(ZIC3):c.*1540G>A http://identifiers.org/clinvar/368161 ^@ NM_000444.5(PHEX):c.489A>G (p.Ser163=) http://identifiers.org/clinvar/314461 ^@ NM_003239.4(TGFB3):c.-547dupC http://identifiers.org/clinvar/314511 ^@ NM_013382.5(POMT2):c.*2093A>G http://identifiers.org/clinvar/314611 ^@ NM_004863.3(SPTLC2):c.*3274C>T http://identifiers.org/clinvar/314661 ^@ NM_004863.3(SPTLC2):c.*135C>A http://identifiers.org/clinvar/314761 ^@ NM_000153.3(GALC):c.81C>T (p.Ala27=) http://identifiers.org/clinvar/314861 ^@ NM_006329.3(FBLN5):c.*648G>A http://identifiers.org/clinvar/314911 ^@ NM_004239.4(TRIP11):c.*430A>G http://identifiers.org/clinvar/325094 ^@ NM_207346.2(TSEN54):c.1415G>A (p.Arg472Gln) http://identifiers.org/clinvar/325144 ^@ NM_001005731.2(ITGB4):c.1560C>T (p.Cys520=) http://identifiers.org/clinvar/325244 ^@ NM_199242.2(UNC13D):c.3079G>A (p.Gly1027Arg) http://identifiers.org/clinvar/315161 ^@ NM_139057.3(ADAMTS17):c.*2138C>T http://identifiers.org/clinvar/325394 ^@ NM_004035.6(ACOX1):c.-173C>T http://identifiers.org/clinvar/325544 ^@ NM_006640.4(SEPT9):c.388C>T (p.Arg130Trp) http://identifiers.org/clinvar/325795 ^@ NM_000152.4(GAA):c.2753C>T (p.Ser918Phe) http://identifiers.org/clinvar/318163 ^@ NM_002474.2(MYH11):c.2703G>T (p.Glu901Asp) http://identifiers.org/clinvar/325845 ^@ NM_000199.3(SGSH):c.166C>T (p.Arg56Cys) http://identifiers.org/clinvar/371816 ^@ NM_006624.5(ZMYND11):c.117-4238T>A http://identifiers.org/clinvar/372066 ^@ NM_000059.3(BRCA2):c.4474A>T (p.Lys1492Ter) http://identifiers.org/clinvar/371866 ^@ NM_007294.3(BRCA1):c.5278-22C>T http://identifiers.org/clinvar/372116 ^@ NM_032667.6(BSCL2):c.193delCinsGGA (p.Pro65Glyfs) http://identifiers.org/clinvar/372190 ^@ NM_003805.4(CRADD):c.508C>T (p.Arg170Cys) http://identifiers.org/clinvar/372246 ^@ NM_020810.3(TRMT5):c.312_315delAATA (p.Ile105Serfs) http://identifiers.org/clinvar/373511 ^@ NM_000748.2(CHRNB2):c.373G>A (p.Gly125Ser) http://identifiers.org/clinvar/373411 ^@ NM_005026.3(PIK3CD):c.3029A>C (p.Glu1010Ala) http://identifiers.org/clinvar/373711 ^@ NM_018328.4(MBD5):c.19T>A (p.Cys7Ser) http://identifiers.org/clinvar/373561 ^@ NM_000751.2(CHRND):c.946G>A (p.Gly316Ser) http://identifiers.org/clinvar/373361 ^@ NM_014795.3(ZEB2):c.430T>A (p.Phe144Ile) http://identifiers.org/clinvar/373211 ^@ NM_022455.4(NSD1):c.6289A>G (p.Lys2097Glu) http://identifiers.org/clinvar/373461 ^@ NM_001130438.2(SPTAN1):c.3161G>A (p.Arg1054His) http://identifiers.org/clinvar/373611 ^@ NM_014141.5(CNTNAP2):c.3559A>G (p.Ile1187Val) http://identifiers.org/clinvar/373661 ^@ NM_017617.4(NOTCH1):c.1553C>T (p.Thr518Met) http://identifiers.org/clinvar/373761 ^@ NM_006086.3(TUBB3):c.614A>C (p.Glu205Ala) http://identifiers.org/clinvar/373261 ^@ NM_020774.3(MIB1):c.2235G>T (p.Gln745His) http://identifiers.org/clinvar/373161 ^@ NM_033419.4(PGAP3):c.477G>C (p.Arg159Ser) http://identifiers.org/clinvar/373111 ^@ NM_000516.5(GNAS):c.1093delT (p.Cys365Alafs) http://identifiers.org/clinvar/373311 ^@ NM_020461.3(TUBGCP6):c.5389C>T (p.Arg1797Cys) http://identifiers.org/clinvar/373811 ^@ NM_001456.3(FLNA):c.2828delG (p.Gly943Valfs) http://identifiers.org/clinvar/373861 ^@ NG_005905.2:g.(?_92501)_(113863_118103)del http://identifiers.org/clinvar/373914 ^@ NM_198159.2(MITF):c.794A>G (p.Tyr265Cys) http://identifiers.org/clinvar/374114 ^@ NM_001844.4(COL2A1):c.1916G>A (p.Gly639Asp) http://identifiers.org/clinvar/373964 ^@ NM_001271.3(CHD2):c.949A>G (p.Ile317Val) http://identifiers.org/clinvar/374164 ^@ NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys) http://identifiers.org/clinvar/374064 ^@ NM_001145809.1(MYH14):c.1945+6G>A http://identifiers.org/clinvar/374014 ^@ NM_000266.3(NDP):c.314C>T (p.Ala105Val) http://identifiers.org/clinvar/374214 ^@ NM_000255.3(MUT):c.38C>T (p.Pro13Leu) http://identifiers.org/clinvar/374268 ^@ NM_001040142.1(SCN2A):c.2229_2230delAC (p.Lys743Asnfs) http://identifiers.org/clinvar/374338 ^@ NM_006412.3(AGPAT2):c.503G>A (p.Trp168Ter) http://identifiers.org/clinvar/374403 ^@ NM_001008537.2(KIAA2022):c.4248dupT (p.Gly1417Trpfs) http://identifiers.org/clinvar/375650 ^@ NM_004181.4(UCHL1):c.647C>A (p.Ala216Asp) http://identifiers.org/clinvar/375739 ^@ NM_031267.3(CDK13):c.2252G>A (p.Arg751Gln) http://identifiers.org/clinvar/387751 ^@ NM_133259.3(LRPPRC):c.2388A>G (p.Ala796=) http://identifiers.org/clinvar/391340 ^@ NM_000249.3(MLH1):c.1559-9G>C http://identifiers.org/clinvar/379774 ^@ NM_015662.2(IFT172):c.4628C>T (p.Thr1543Met) http://identifiers.org/clinvar/383571 ^@ NM_000249.3(MLH1):c.21T>C (p.Val7=) http://identifiers.org/clinvar/380626 ^@ NM_000179.2(MSH6):c.3483T>C (p.Pro1161=) http://identifiers.org/clinvar/380025 ^@ NM_005051.2(QARS):c.1957-9C>T http://identifiers.org/clinvar/391090 ^@ NM_006005.3(WFS1):c.231C>T (p.Thr77=) http://identifiers.org/clinvar/386812 ^@ NM_015512.4(DNAH1):c.7805+6C>T http://identifiers.org/clinvar/382620 ^@ NM_000158.3(GBE1):c.*5G>A http://identifiers.org/clinvar/382068 ^@ NM_000158.3(GBE1):c.1080G>A (p.Thr360=) http://identifiers.org/clinvar/380375 ^@ NM_000038.5(APC):c.532-7G>C http://identifiers.org/clinvar/383772 ^@ NM_018699.3(PRDM5):c.491A>T (p.Lys164Ile) http://identifiers.org/clinvar/384523 ^@ NM_021911.2(GABRB2):c.482T>C (p.Met161Thr) http://identifiers.org/clinvar/390540 ^@ NM_000816.3(GABRG2):c.333C>T (p.Tyr111=) http://identifiers.org/clinvar/386712 ^@ NM_002887.3(RARS):c.9A>G (p.Val3=) http://identifiers.org/clinvar/384573 ^@ NM_003060.3(SLC22A5):c.1368A>G (p.Thr456=) http://identifiers.org/clinvar/388501 ^@ NM_001098511.2(KIF2A):c.1701C>G (p.Gly567=) http://identifiers.org/clinvar/382419 ^@ NM_004130.3(GYG1):c.267C>T (p.Cys89=) http://identifiers.org/clinvar/381567 ^@ NM_000404.3(GLB1):c.902C>T (p.Ala301Val) http://identifiers.org/clinvar/382570 ^@ NM_006846.3(SPINK5):c.1431-13C>T http://identifiers.org/clinvar/386512 ^@ NM_001167734.1(VARS2):c.2557-19C>T http://identifiers.org/clinvar/386362 ^@ NM_007255.2(B4GALT7):c.297G>T (p.Val99=) http://identifiers.org/clinvar/380275 ^@ NM_002397.4(MEF2C):c.308C>T (p.Ala103Val) http://identifiers.org/clinvar/380526 ^@ NM_006567.4(FARS2):c.462G>T (p.Ala154=) http://identifiers.org/clinvar/388151 ^@ NM_018368.3(LMBRD1):c.405T>C (p.Thr135=) http://identifiers.org/clinvar/385862 ^@ NM_001457.3(FLNB):c.7255G>A (p.Val2419Ile) http://identifiers.org/clinvar/390190 ^@ NM_001723.5(DST):c.1122A>T (p.Thr374=) http://identifiers.org/clinvar/386762 ^@ NM_018341.2(ERMARD):c.-29A>T http://identifiers.org/clinvar/390890 ^@ NM_016203.3(PRKAG2):c.810T>C (p.Cys270=) http://identifiers.org/clinvar/380676 ^@ NM_018238.3(AGK):c.880C>A (p.Leu294Ile) http://identifiers.org/clinvar/391190 ^@ NM_000722.3(CACNA2D1):c.2463+13T>A http://identifiers.org/clinvar/385812 ^@ NM_020320.4(RARS2):c.201A>G (p.Arg67=) http://identifiers.org/clinvar/390990 ^@ NM_000445.4(PLEC):c.5211C>T (p.Ala1737=) http://identifiers.org/clinvar/389351 ^@ NM_022464.4(SIL1):c.1030-14G>A http://identifiers.org/clinvar/390440 ^@ NM_000445.4(PLEC):c.13717G>A (p.Val4573Met) http://identifiers.org/clinvar/383822 ^@ NM_000168.5(GLI3):c.1242+16C>T http://identifiers.org/clinvar/381667 ^@ NM_000535.6(PMS2):c.1251T>C (p.Ile417=) http://identifiers.org/clinvar/388901 ^@ NM_002485.4(NBN):c.-15T>A http://identifiers.org/clinvar/390790 ^@ NM_001003800.1(BICD2):c.1044G>A (p.Leu348=) http://identifiers.org/clinvar/381617 ^@ NM_000136.2(FANCC):c.-13C>T http://identifiers.org/clinvar/390690 ^@ NM_213649.1(SFXN4):c.471C>T (p.Tyr157=) http://identifiers.org/clinvar/133054 ^@ NM_000540.2(RYR1):c.13941_13946delGAGCCT (p.Ser4648_Leu4649del) http://identifiers.org/clinvar/133104 ^@ NM_000540.2(RYR1):c.1615T>C (p.Phe539Leu) http://identifiers.org/clinvar/133154 ^@ NM_000540.2(RYR1):c.5988C>T (p.Arg1996=) http://identifiers.org/clinvar/133204 ^@ NM_000540.2(RYR1):c.7487C>T (p.Pro2496Leu) http://identifiers.org/clinvar/133280 ^@ NM_000546.5(TP53):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/133346 ^@ NM_032237.4(POMK):c.325C>T (p.Gln109Ter) http://identifiers.org/clinvar/133396 ^@ NM_003820.3(TNFRSF14):c.304+624C>T http://identifiers.org/clinvar/133446 ^@ NM_007313.2(ABL1):c.2638G>A (p.Ala880Thr) http://identifiers.org/clinvar/133496 ^@ NM_152424.3(AMER1):c.1951G>A (p.Val651Ile) http://identifiers.org/clinvar/133547 ^@ NM_006015.4(ARID1A):c.3524C>T (p.Pro1175Leu) http://identifiers.org/clinvar/133597 ^@ NM_015338.5(ASXL1):c.3889G>A (p.Val1297Ile) http://identifiers.org/clinvar/133647 ^@ NM_000489.4(ATRX):c.5576A>G (p.Asn1859Ser) http://identifiers.org/clinvar/133697 ^@ NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) http://identifiers.org/clinvar/133751 ^@ NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) http://identifiers.org/clinvar/133801 ^@ NM_032415.5(CARD11):c.3025G>A (p.Val1009Ile) http://identifiers.org/clinvar/133851 ^@ NM_004360.4(CDH1):c.322A>G (p.Arg108Gly) http://identifiers.org/clinvar/133901 ^@ NM_015125.4(CIC):c.2687C>T (p.Pro896Leu) http://identifiers.org/clinvar/133951 ^@ NM_001904.3(CTNNB1):c.1597A>G (p.Ile533Val) http://identifiers.org/clinvar/134001 ^@ NM_001077706.2(ECT2L):c.12C>A (p.Phe4Leu) http://identifiers.org/clinvar/134053 ^@ NM_001429.3(EP300):c.6413C>T (p.Ala2138Val) http://identifiers.org/clinvar/134696 ^@ NM_003482.3(KMT2D):c.7229G>A (p.Arg2410Gln) http://identifiers.org/clinvar/134747 ^@ NM_170606.2(KMT2C):c.3955G>C (p.Asp1319His) http://identifiers.org/clinvar/134797 ^@ NM_170606.2(KMT2C):c.10444G>A (p.Val3482Ile) http://identifiers.org/clinvar/134849 ^@ NM_000179.2(MSH6):c.1864A>C (p.Ile622Leu) http://identifiers.org/clinvar/134901 ^@ NM_006164.4(NFE2L2):c.529T>G (p.Leu177Val) http://identifiers.org/clinvar/134951 ^@ NM_017617.4(NOTCH1):c.6733G>A (p.Gly2245Arg) http://identifiers.org/clinvar/135001 ^@ NM_016734.2(PAX5):c.638C>T (p.Ser213Leu) http://identifiers.org/clinvar/135051 ^@ NM_000534.4(PMS1):c.1643A>G (p.Lys548Arg) http://identifiers.org/clinvar/135153 ^@ NM_004260.3(RECQL4):c.3443C>T (p.Ser1148Phe) http://identifiers.org/clinvar/135662 ^@ NM_017837.3(PIGV):c.494C>A (p.Ala165Glu) http://identifiers.org/clinvar/135722 ^@ NM_000038.5(APC):c.8144C>T (p.Thr2715Ile) http://identifiers.org/clinvar/135773 ^@ NM_000051.3(ATM):c.6765T>C (p.Leu2255=) http://identifiers.org/clinvar/135831 ^@ NM_000179.2(MSH6):c.1790dupA (p.Gly599Argfs) http://identifiers.org/clinvar/135881 ^@ NM_000264.3(PTCH1):c.2560+7C>T http://identifiers.org/clinvar/135931 ^@ NM_000455.4(STK11):c.971C>T (p.Pro324Leu) http://identifiers.org/clinvar/135983 ^@ NM_001128425.1(MUTYH):c.1255G>A (p.Ala419Thr) http://identifiers.org/clinvar/136033 ^@ NM_002354.2(EPCAM):c.859-6A>G http://identifiers.org/clinvar/136084 ^@ NM_007294.3(BRCA1):c.338A>G (p.Asn113Ser) http://identifiers.org/clinvar/136134 ^@ NM_024675.3(PALB2):c.2571G>A (p.Leu857=) http://identifiers.org/clinvar/136194 ^@ NM_130838.1(UBE3A):c.403dupT (p.Ser135Phefs) http://identifiers.org/clinvar/136245 ^@ NM_004299.4(ABCB7):c.1742C>T (p.Ala581Val) http://identifiers.org/clinvar/136296 ^@ NM_020247.4(COQ8A):c.78C>T (p.His26=) http://identifiers.org/clinvar/136347 ^@ NM_005751.4(AKAP9):c.1389G>T (p.Met463Ile) http://identifiers.org/clinvar/136398 ^@ NM_001148.4(ANK2):c.11790C>T (p.Ile3930=) http://identifiers.org/clinvar/186888 ^@ NM_002878.3(RAD51D):c.966A>G (p.Thr322=) http://identifiers.org/clinvar/184247 ^@ NM_002878.3(RAD51D):c.349T>A (p.Cys117Ser) http://identifiers.org/clinvar/186738 ^@ NM_007294.3(BRCA1):c.2920T>C (p.Leu974=) http://identifiers.org/clinvar/186688 ^@ NM_007294.3(BRCA1):c.1186G>A (p.Asp396Asn) http://identifiers.org/clinvar/186086 ^@ NM_000546.5(TP53):c.1000G>A (p.Gly334Arg) http://identifiers.org/clinvar/186587 ^@ NM_000546.5(TP53):c.436T>G (p.Trp146Gly) http://identifiers.org/clinvar/186236 ^@ NM_000546.5(TP53):c.376-2A>G http://identifiers.org/clinvar/184097 ^@ NM_000546.5(TP53):c.255T>C (p.Pro85=) http://identifiers.org/clinvar/184297 ^@ NM_000455.4(STK11):c.57G>C (p.Ser19=) http://identifiers.org/clinvar/184047 ^@ NM_000455.4(STK11):c.1259C>T (p.Ala420Val) http://identifiers.org/clinvar/187781 ^@ NM_030813.5(CLPB):c.1937G>T (p.Gly646Val) http://identifiers.org/clinvar/187857 ^@ NM_004990.3(MARS):c.2398C>A (p.Pro800Thr) http://identifiers.org/clinvar/187910 ^@ NM_004409.4(DMPK):c.*224_*226[1080] http://identifiers.org/clinvar/187960 ^@ NM_004409.4(DMPK):c.*224_*226[339] http://identifiers.org/clinvar/188010 ^@ NM_004409.4(DMPK):c.*224_*226[593] http://identifiers.org/clinvar/188267 ^@ NM_000251.2(MSH2):c.956A>T (p.Asp319Val) http://identifiers.org/clinvar/188162 ^@ NM_000535.6(PMS2):c.1702C>T (p.Pro568Ser) http://identifiers.org/clinvar/188111 ^@ NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) http://identifiers.org/clinvar/188372 ^@ NM_024675.3(PALB2):c.3351-?_*(1_?)del http://identifiers.org/clinvar/188319 ^@ NM_024675.3(PALB2):c.2587-?_*(1_?)del http://identifiers.org/clinvar/188213 ^@ NM_007294.3(BRCA1):c.2425G>A (p.Glu809Lys) http://identifiers.org/clinvar/188060 ^@ NM_000546.5(TP53):c.589G>A (p.Val197Met) http://identifiers.org/clinvar/188680 ^@ NM_001001430.2(TNNT2):c.134-29C>G http://identifiers.org/clinvar/188580 ^@ NM_000256.3(MYBPC3):c.3314C>G (p.Ala1105Gly) http://identifiers.org/clinvar/188530 ^@ NM_000256.3(MYBPC3):c.655-18G>A http://identifiers.org/clinvar/188430 ^@ NM_000059.3(BRCA2):c.5394T>C (p.Asn1798=) http://identifiers.org/clinvar/188630 ^@ NM_000257.3(MYH7):c.3861G>C (p.Leu1287=) http://identifiers.org/clinvar/188480 ^@ NM_000152.4(GAA):c.1375G>A (p.Asp459Asn) http://identifiers.org/clinvar/188730 ^@ NM_014625.3(NPHS2):c.503G>A (p.Arg168His) http://identifiers.org/clinvar/188780 ^@ NM_019098.4(CNGB3):c.644-1G>C http://identifiers.org/clinvar/188881 ^@ NM_017890.4(VPS13B):c.5334dupT (p.Gly1779Trpfs) http://identifiers.org/clinvar/188931 ^@ NM_000352.4(ABCC8):c.4411G>A (p.Asp1471Asn) http://identifiers.org/clinvar/188830 ^@ NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) http://identifiers.org/clinvar/242598 ^@ NM_018249.5(CDK5RAP2):c.280G>C (p.Gly94Arg) http://identifiers.org/clinvar/226675 ^@ NM_001101426.3(ISPD):c.534+13T>A http://identifiers.org/clinvar/227176 ^@ NM_139025.4(ADAMTS13):c.2195C>T (p.Ala732Val) http://identifiers.org/clinvar/229047 ^@ NM_006393.2(NEBL):c.2681G>A (p.Gly894Glu) http://identifiers.org/clinvar/227226 ^@ NM_022124.5(CDH23):c.4947G>A (p.Thr1649=) http://identifiers.org/clinvar/229247 ^@ NM_005411.4(SFTPA1):c.649G>A (p.Ala217Thr) http://identifiers.org/clinvar/228797 ^@ NM_007078.2(LDB3):c.991G>A (p.Ala331Thr) http://identifiers.org/clinvar/229197 ^@ NM_002906.3(RDX):c.1154A>C (p.Glu385Ala) http://identifiers.org/clinvar/229297 ^@ NM_005422.2(TECTA):c.2752C>G (p.Pro918Ala) http://identifiers.org/clinvar/226925 ^@ NM_001277269.1(OTOG):c.953C>A (p.Ala318Asp) http://identifiers.org/clinvar/226875 ^@ NM_001277269.1(OTOG):c.2775G>A (p.Ser925=) http://identifiers.org/clinvar/229097 ^@ NM_001277269.1(OTOG):c.6215G>T (p.Arg2072Leu) http://identifiers.org/clinvar/227807 ^@ NM_001277269.1(OTOG):c.8283C>T (p.Asn2761=) http://identifiers.org/clinvar/229147 ^@ NM_004572.3(PKP2):c.725C>T (p.Thr242Met) http://identifiers.org/clinvar/227657 ^@ NM_005379.3(MYO1A):c.2162G>A (p.Arg721Gln) http://identifiers.org/clinvar/226975 ^@ NM_173591.3(OTOGL):c.6832C>T (p.Pro2278Ser) http://identifiers.org/clinvar/227076 ^@ NM_001127217.2(SMAD9):c.12C>T (p.Thr4=) http://identifiers.org/clinvar/226625 ^@ NM_000115.4(EDNRB):c.552C= (p.Ser184=) http://identifiers.org/clinvar/228897 ^@ NM_002471.3(MYH6):c.5458C>T (p.Arg1820Trp) http://identifiers.org/clinvar/228847 ^@ NM_002755.3(MAP2K1):c.729G>T (p.Gln243His) http://identifiers.org/clinvar/226575 ^@ NM_178452.5(DNAAF1):c.1505C>T (p.Pro502Leu) http://identifiers.org/clinvar/228947 ^@ NM_016239.3(MYO15A):c.4109G>A (p.Arg1370His) http://identifiers.org/clinvar/226775 ^@ NM_016239.3(MYO15A):c.10573A>G (p.Ser3525Gly) http://identifiers.org/clinvar/226825 ^@ NM_003803.3(MYOM1):c.4662C>T (p.Ala1554=) http://identifiers.org/clinvar/229597 ^@ NM_000371.3(TTR):c.418G>T (p.Ala140Ser) http://identifiers.org/clinvar/227707 ^@ NM_003803.3(MYOM1):c.739G>A (p.Glu247Lys) http://identifiers.org/clinvar/228697 ^@ NM_133261.2(GIPC3):c.*15G>A http://identifiers.org/clinvar/227126 ^@ NM_001039141.2(TRIOBP):c.504C>A (p.Asp168Glu) http://identifiers.org/clinvar/227958 ^@ NM_006941.3(SOX10):c.1353C>T (p.Ser451=) http://identifiers.org/clinvar/228997 ^@ NM_000260.3(MYO7A):c.1117C>T (p.Arg373Cys) http://identifiers.org/clinvar/234291 ^@ NM_004895.4(NLRP3):c.2431G>A (p.Gly811Ser) http://identifiers.org/clinvar/234412 ^@ NM_002977.3(SCN9A):c.4612T>C (p.Trp1538Arg) http://identifiers.org/clinvar/234565 ^@ NM_000179.2(MSH6):c.1440A>T (p.Val480=) http://identifiers.org/clinvar/234665 ^@ NM_000179.2(MSH6):c.3527G>A (p.Arg1176Lys) http://identifiers.org/clinvar/232589 ^@ NM_000535.6(PMS2):c.11C>G (p.Ala4Gly) http://identifiers.org/clinvar/234514 ^@ NM_000314.6(PTEN):c.352_353delCA (p.His118Cysfs) http://identifiers.org/clinvar/234463 ^@ NM_000059.3(BRCA2):c.6988A>G (p.Ile2330Val) http://identifiers.org/clinvar/234343 ^@ NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) http://identifiers.org/clinvar/234615 ^@ NM_000214.2(JAG1):c.3048+1G>T http://identifiers.org/clinvar/234765 ^@ NM_007194.3(CHEK2):c.876delT (p.Phe292Leufs) http://identifiers.org/clinvar/234715 ^@ NM_007194.3(CHEK2):c.908+1G>T http://identifiers.org/clinvar/231738 ^@ NM_003000.2(SDHB):c.200+3G>C http://identifiers.org/clinvar/234131 ^@ NM_000465.3(BARD1):c.1859G>A (p.Cys620Tyr) http://identifiers.org/clinvar/232088 ^@ NM_000251.2(MSH2):c.1924G>A (p.Val642Ile) http://identifiers.org/clinvar/232739 ^@ NM_000251.2(MSH2):c.2004delTinsCA (p.Gly669Argfs) http://identifiers.org/clinvar/231388 ^@ NM_000179.2(MSH6):c.2493C>T (p.Pro831=) http://identifiers.org/clinvar/233881 ^@ NM_000179.2(MSH6):c.3202C>A (p.Arg1068=) http://identifiers.org/clinvar/234031 ^@ NM_000179.2(MSH6):c.3215G>A (p.Gly1072Asp) http://identifiers.org/clinvar/232338 ^@ NM_000249.3(MLH1):c.2065C>A (p.Gln689Lys) http://identifiers.org/clinvar/229849 ^@ NM_000038.5(APC):c.3774A>G (p.Thr1258=) http://identifiers.org/clinvar/231488 ^@ NM_000038.5(APC):c.3932T>G (p.Ile1311Ser) http://identifiers.org/clinvar/263472 ^@ NM_002474.2(MYH11):c.2000C>T (p.Thr667Met) http://identifiers.org/clinvar/264280 ^@ NM_002230.2(JUP):c.1824G>A (p.Leu608=) http://identifiers.org/clinvar/263371 ^@ NM_004415.2:c.741T>G http://identifiers.org/clinvar/263574 ^@ NM_004612.2:c.76_78dupCG http://identifiers.org/clinvar/264688 ^@ NM_004082.4(DCTN1):c.233A>G (p.Tyr78Cys) http://identifiers.org/clinvar/264745 ^@ NM_001242896.1(DEPDC5):c.4260delG (p.Glu1421ArgfsTer153) http://identifiers.org/clinvar/264900 ^@ NM_000059.3(BRCA2):c.6841+1334T>A http://identifiers.org/clinvar/264950 ^@ NM_000059.3(BRCA2):c.7805+1290C>A http://identifiers.org/clinvar/264800 ^@ NM_007294.3(BRCA1):c.134+1651dup http://identifiers.org/clinvar/264850 ^@ NM_007294.3(BRCA1):c.-20+519_-20+523del http://identifiers.org/clinvar/265002 ^@ NM_173076.2(ABCA12):c.1660C>T (p.Gln554Ter) http://identifiers.org/clinvar/265259 ^@ NM_003038.4(SLC1A4):c.766G>A (p.Glu256Lys) http://identifiers.org/clinvar/265055 ^@ NM_000059.3(BRCA2):c.2490C>G (p.Asn830Lys) http://identifiers.org/clinvar/265105 ^@ NM_207581.3(DUOXA2):c.205+2T>C http://identifiers.org/clinvar/265155 ^@ NM_144997.5(FLCN):c.1601delA (p.Lys534Serfs) http://identifiers.org/clinvar/265206 ^@ NM_000216.3(ANOS1):c.1891C>T (p.Arg631Ter) http://identifiers.org/clinvar/266049 ^@ NM_012224.2(NEK1):c.2053G>A (p.Val685Met) http://identifiers.org/clinvar/266121 ^@ NM_005918.3(MDH2):c.596delG (p.Gly199Alafs) http://identifiers.org/clinvar/266621 ^@ NM_000059.3(BRCA2):c.126T>A (p.Tyr42Ter) http://identifiers.org/clinvar/266671 ^@ NM_000059.3(BRCA2):c.1981_1984dupAGCT (p.Ser662Terfs) http://identifiers.org/clinvar/266721 ^@ NM_000059.3(BRCA2):c.2775dupT (p.Thr926Tyrfs) http://identifiers.org/clinvar/266771 ^@ NM_000059.3(BRCA2):c.3741delT (p.Ser1248Valfs) http://identifiers.org/clinvar/266821 ^@ NM_000059.3(BRCA2):c.4576dupA (p.Thr1526Asnfs) http://identifiers.org/clinvar/266871 ^@ NM_000059.3(BRCA2):c.5329_5334delAAGAATinsG (p.Lys1777Glyfs) http://identifiers.org/clinvar/266921 ^@ NM_000059.3(BRCA2):c.6082_6083delGA (p.Glu2028Argfs) http://identifiers.org/clinvar/266971 ^@ NM_000059.3(BRCA2):c.6698delC (p.Ala2233Valfs) http://identifiers.org/clinvar/267021 ^@ NM_000059.3(BRCA2):c.7561delA (p.Ile2521Serfs) http://identifiers.org/clinvar/267071 ^@ NM_000059.3(BRCA2):c.8327_8331delTAAAG (p.Leu2776Tyrfs) http://identifiers.org/clinvar/267121 ^@ NM_000059.3(BRCA2):c.8941G>T (p.Glu2981Ter) http://identifiers.org/clinvar/267171 ^@ NM_000059.3(BRCA2):c.9748dupT (p.Ser3250Phefs) http://identifiers.org/clinvar/266521 ^@ NM_007294.3(BRCA1):c.5065dupA (p.Met1689Asnfs) http://identifiers.org/clinvar/266421 ^@ NM_007294.3(BRCA1):c.3959delC (p.Ser1320Phefs) http://identifiers.org/clinvar/266371 ^@ NM_007294.3(BRCA1):c.3461T>G (p.Leu1154Ter) http://identifiers.org/clinvar/266321 ^@ NM_007294.3(BRCA1):c.2951_2952delTT (p.Phe984Serfs) http://identifiers.org/clinvar/266271 ^@ NM_007294.3(BRCA1):c.2501delG (p.Gly834Aspfs) http://identifiers.org/clinvar/266221 ^@ NM_007294.3(BRCA1):c.2127_2128insGA (p.Thr710Glufs) http://identifiers.org/clinvar/266171 ^@ NM_007294.3(BRCA1):c.1505delT (p.Leu502Terfs) http://identifiers.org/clinvar/266571 ^@ NM_007294.3(BRCA1):c.707delC (p.Thr236Metfs) http://identifiers.org/clinvar/267241 ^@ NM_015247.2(CYLD):c.1778G>A (p.Gly593Asp) http://identifiers.org/clinvar/267316 ^@ NM_021008.3(DEAF1):c.997+4A>C http://identifiers.org/clinvar/267389 ^@ c.7883_7887del5 http://identifiers.org/clinvar/267442 ^@ NM_001172303.2(MASTL):c.811+2T>G http://identifiers.org/clinvar/267528 ^@ NM_007294.3(BRCA1):c.4186-?_5277+?del http://identifiers.org/clinvar/267578 ^@ NM_007294.3(BRCA1):c.5153-?_5193+?del http://identifiers.org/clinvar/267858 ^@ 46;XX;t(1;19)(p34.1;p13.1)dn http://identifiers.org/clinvar/267908 ^@ 46;XY;t(3;18)(q13.2;q11.2)dn http://identifiers.org/clinvar/267958 ^@ 46;XY;inv(10)(q21.2q22.3)pat http://identifiers.org/clinvar/268008 ^@ 46;XX;inv(5)(q14q33)dn http://identifiers.org/clinvar/268061 ^@ NC_000023.10:g.(?_139102248)_(139697913_?)dup http://identifiers.org/clinvar/291050 ^@ NM_014244.4(ADAMTS2):c.94C>T (p.Pro32Ser) http://identifiers.org/clinvar/291100 ^@ NM_015102.4(NPHP4):c.3110A>C (p.Glu1037Ala) http://identifiers.org/clinvar/291150 ^@ NM_000392.4(ABCC2):c.650A>C (p.Tyr217Ser) http://identifiers.org/clinvar/291201 ^@ NM_000543.4(SMPD1):c.733T>C (p.Tyr245His) http://identifiers.org/clinvar/291251 ^@ NM_003742.2(ABCB11):c.2298G>A (p.Gly766=) http://identifiers.org/clinvar/291314 ^@ NM_000540.2(RYR1):c.15088C>T (p.Arg5030Cys) http://identifiers.org/clinvar/291416 ^@ NM_001918.3(DBT):c.*4273C>A http://identifiers.org/clinvar/291466 ^@ NM_015074.3(KIF1B):c.168C>T (p.Tyr56=) http://identifiers.org/clinvar/291516 ^@ NM_001854.3(COL11A1):c.3447C>T (p.Pro1149=) http://identifiers.org/clinvar/291566 ^@ NM_015074.3(KIF1B):c.3121+9A>G http://identifiers.org/clinvar/292179 ^@ NM_005957.4(MTHFR):c.*3046G>A http://identifiers.org/clinvar/293168 ^@ NM_000702.3(ATP1A2):c.*1280G>A http://identifiers.org/clinvar/293268 ^@ NM_004550.4(NDUFS2):c.-28C>T http://identifiers.org/clinvar/293418 ^@ NM_004431.4(EPHA2):c.1941G>T (p.Thr647=) http://identifiers.org/clinvar/293468 ^@ NM_005149.2(TBX19):c.603+45_603+48delGTGT http://identifiers.org/clinvar/293568 ^@ NM_000130.4(F5):c.*157A>T http://identifiers.org/clinvar/293368 ^@ NM_003001.3(SDHC):c.*2264G>T http://identifiers.org/clinvar/293818 ^@ NM_003000.2(SDHB):c.-81G>T http://identifiers.org/clinvar/293618 ^@ NM_000130.4(F5):c.2864G>T (p.Ser955Ile) http://identifiers.org/clinvar/293668 ^@ NM_152281.2(GORAB):c.*598A>G http://identifiers.org/clinvar/293918 ^@ NM_002065.6(GLUL):c.*1218G>A http://identifiers.org/clinvar/293118 ^@ NM_002241.4(KCNJ10):c.1123C>T (p.Arg375Cys) http://identifiers.org/clinvar/293218 ^@ NM_002857.3(PEX19):c.*487T>A http://identifiers.org/clinvar/294118 ^@ NM_031935.2(HMCN1):c.2164G>A (p.Glu722Lys) http://identifiers.org/clinvar/294068 ^@ NM_000433.3(NCF2):c.*393dupA http://identifiers.org/clinvar/294168 ^@ NM_031935.2(HMCN1):c.6029-11G>T http://identifiers.org/clinvar/293318 ^@ NM_003001.3(SDHC):c.406-13delG http://identifiers.org/clinvar/294268 ^@ NM_031935.2(HMCN1):c.13868G>A (p.Arg4623Gln) http://identifiers.org/clinvar/294318 ^@ NM_031935.2(HMCN1):c.*234G>A http://identifiers.org/clinvar/294368 ^@ NM_003748.3(ALDH4A1):c.1381G>A (p.Asp461Asn) http://identifiers.org/clinvar/293518 ^@ NM_006996.2(SLC19A2):c.*390T>G http://identifiers.org/clinvar/293768 ^@ NM_022089.3(ATP13A2):c.3301C>T (p.Leu1101Phe) http://identifiers.org/clinvar/293718 ^@ NM_000261.1(MYOC):c.440G>A (p.Arg147Gln) http://identifiers.org/clinvar/293868 ^@ NM_033343.3(LHX4):c.775C>G (p.Arg259Gly) http://identifiers.org/clinvar/293968 ^@ NM_002065.6(GLUL):c.-672_-671delCT http://identifiers.org/clinvar/336213 ^@ NM_000341.3(SLC3A1):c.1854_1859delGAGAAT (p.Met618_Arg619del) http://identifiers.org/clinvar/335863 ^@ NM_014946.3(SPAST):c.*1543_*1544insT http://identifiers.org/clinvar/336420 ^@ NM_002354.2(EPCAM):c.*261G>C http://identifiers.org/clinvar/336113 ^@ NM_133259.3(LRPPRC):c.*1665C>G http://identifiers.org/clinvar/336163 ^@ NM_133259.3(LRPPRC):c.1419T>C (p.Asp473=) http://identifiers.org/clinvar/343899 ^@ NM_005677.3(COLQ):c.-121G>A http://identifiers.org/clinvar/344849 ^@ NM_006371.4(CRTAP):c.*2242A>C http://identifiers.org/clinvar/336720 ^@ NM_032180.2(FAM161A):c.*815delA http://identifiers.org/clinvar/336363 ^@ NM_139279.5(MCFD2):c.*1043G>A http://identifiers.org/clinvar/344899 ^@ NM_006371.4(CRTAP):c.*5216G>A http://identifiers.org/clinvar/336470 ^@ NM_000233.3(LHCGR):c.81G>A (p.Glu27=) http://identifiers.org/clinvar/336520 ^@ NM_001135659.2(NRXN1):c.*1243_*1246dupACAC http://identifiers.org/clinvar/345199 ^@ NM_018075.4(ANO10):c.-67C>T http://identifiers.org/clinvar/344299 ^@ NM_145261.3(DNAJC19):c.-121C>T http://identifiers.org/clinvar/345249 ^@ NM_016006.4(ABHD5):c.*1758_*1759insG http://identifiers.org/clinvar/345349 ^@ NM_020208.3(SLC6A20):c.*2685T>C http://identifiers.org/clinvar/336770 ^@ NM_015910.5(WDPCP):c.83A>T (p.Asp28Val) http://identifiers.org/clinvar/336820 ^@ NM_002056.3(GFPT1):c.*3091A>T http://identifiers.org/clinvar/344549 ^@ NM_000461.4(THRB):c.*4917G>A http://identifiers.org/clinvar/336870 ^@ NM_002056.3(GFPT1):c.*86C>A http://identifiers.org/clinvar/344649 ^@ NM_003242.5(TGFBR2):c.-302A>G http://identifiers.org/clinvar/344699 ^@ NM_003242.5(TGFBR2):c.*1572A>G http://identifiers.org/clinvar/344749 ^@ NM_015141.3(GPD1L):c.*1058A>G http://identifiers.org/clinvar/337020 ^@ NM_015120.4(ALMS1):c.6142T>A (p.Ser2048Thr) http://identifiers.org/clinvar/344999 ^@ NM_001106.3(ACVR2B):c.*5201T>C http://identifiers.org/clinvar/345049 ^@ NM_001106.3(ACVR2B):c.*9319T>A http://identifiers.org/clinvar/345099 ^@ NM_198056.2(SCN5A):c.*516G>T http://identifiers.org/clinvar/346438 ^@ NM_198859.3(PRICKLE2):c.*2772A>G http://identifiers.org/clinvar/346538 ^@ NM_000248.3(MITF):c.*2505C>T http://identifiers.org/clinvar/342410 ^@ NM_000551.3(VHL):c.*385delT http://identifiers.org/clinvar/346738 ^@ NM_002942.4(ROBO2):c.*1619dupA http://identifiers.org/clinvar/342310 ^@ NM_016247.3(IMPG2):c.*810C>T http://identifiers.org/clinvar/346788 ^@ NM_000158.3(GBE1):c.1581G>A (p.Thr527=) http://identifiers.org/clinvar/346888 ^@ NM_000313.3(PROS1):c.684C>T (p.Cys228=) http://identifiers.org/clinvar/342560 ^@ NM_198196.2(CD96):c.*807A>G http://identifiers.org/clinvar/345699 ^@ NM_015175.2(NBEAL2):c.*155C>A http://identifiers.org/clinvar/347088 ^@ NM_005908.3(MANBA):c.1705-13C>A http://identifiers.org/clinvar/347138 ^@ NM_005327.4(HADH):c.*305T>A http://identifiers.org/clinvar/342710 ^@ NM_020754.3(ARHGAP31):c.*2051C>A http://identifiers.org/clinvar/347338 ^@ NM_001148.4(ANK2):c.8814T>A (p.Ser2938=) http://identifiers.org/clinvar/342810 ^@ NM_000388.3(CASR):c.*574C>G http://identifiers.org/clinvar/347488 ^@ NM_176824.2(BBS7):c.487C>T (p.Pro163Ser) http://identifiers.org/clinvar/342860 ^@ NM_053025.3(MYLK):c.*165delA http://identifiers.org/clinvar/347638 ^@ NM_172250.2(MMAA):c.*2019A>G http://identifiers.org/clinvar/346338 ^@ NM_001457.3(FLNB):c.3771G>A (p.Pro1257=) http://identifiers.org/clinvar/346388 ^@ NM_001457.3(FLNB):c.*1233T>C http://identifiers.org/clinvar/346688 ^@ NM_002942.4(ROBO2):c.1694G>C (p.Ser565Thr) http://identifiers.org/clinvar/343849 ^@ NM_005677.3(COLQ):c.788C>T (p.Pro263Leu) http://identifiers.org/clinvar/346838 ^@ NM_000306.3(POU1F1):c.667A>G (p.Ile223Val) http://identifiers.org/clinvar/361943 ^@ NM_003235.4(TG):c.3217+14G>T http://identifiers.org/clinvar/361993 ^@ NM_003235.4(TG):c.7264G>A (p.Ala2422Thr) http://identifiers.org/clinvar/362043 ^@ NM_006096.3(NDRG1):c.-19+14C>G http://identifiers.org/clinvar/358355 ^@ NM_198999.2(SLC26A5):c.472A>G (p.Ile158Val) http://identifiers.org/clinvar/362193 ^@ NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) http://identifiers.org/clinvar/362343 ^@ NM_006765.3(TUSC3):c.*2146A>T http://identifiers.org/clinvar/362843 ^@ NM_000349.2(STAR):c.*88G>C http://identifiers.org/clinvar/354765 ^@ NM_020381.3(PDSS2):c.*140C>T http://identifiers.org/clinvar/359144 ^@ NM_001080413.3(NOBOX):c.1154+11T>C http://identifiers.org/clinvar/363043 ^@ NM_000037.3(ANK1):c.704C>A (p.Thr235Lys) http://identifiers.org/clinvar/354715 ^@ NM_001491.2(GCNT2):c.*196A>G http://identifiers.org/clinvar/363193 ^@ NM_005914.3(MCM4):c.-701C>A http://identifiers.org/clinvar/359344 ^@ NM_016203.3(PRKAG2):c.787C>A (p.Arg263=) http://identifiers.org/clinvar/363293 ^@ NM_006269.1(RP1):c.3699C>T (p.Ser1233=) http://identifiers.org/clinvar/354865 ^@ NM_007214.4(SEC63):c.*1705G>A http://identifiers.org/clinvar/355316 ^@ NM_000045.3(ARG1):c.-21A>C http://identifiers.org/clinvar/355366 ^@ NM_006208.2(ENPP1):c.*563G>A http://identifiers.org/clinvar/359744 ^@ NM_032581.3(FAM126A):c.*1596A>G http://identifiers.org/clinvar/359794 ^@ NM_001031710.2(KLHL7):c.-145C>T http://identifiers.org/clinvar/355266 ^@ NM_000426.3(LAMA2):c.3666C>A (p.Asp1222Glu) http://identifiers.org/clinvar/355516 ^@ NM_017651.4(AHI1):c.-284G>A http://identifiers.org/clinvar/355666 ^@ NM_003764.3(STX11):c.*4283G>A http://identifiers.org/clinvar/360094 ^@ NM_133468.4(BMPER):c.-108G>A http://identifiers.org/clinvar/360144 ^@ NM_133468.4(BMPER):c.*1484delG http://identifiers.org/clinvar/360294 ^@ NM_000162.3(GCK):c.*356G>A http://identifiers.org/clinvar/360394 ^@ NM_014855.2(AP5Z1):c.*1760G>A http://identifiers.org/clinvar/356655 ^@ NM_005943.5(MOCS1):c.981+12C>T http://identifiers.org/clinvar/356755 ^@ NM_000322.4(PRPH2):c.*1007C>A http://identifiers.org/clinvar/366043 ^@ NM_024757.4(EHMT1):c.*870T>G http://identifiers.org/clinvar/361893 ^@ NM_004519.3(KCNQ3):c.-140_-139dupGG http://identifiers.org/clinvar/366243 ^@ NM_003070.4(SMARCA2):c.4440G>A (p.Thr1480=) http://identifiers.org/clinvar/312022 ^@ NM_207361.5(FREM2):c.7984-10G>A http://identifiers.org/clinvar/367282 ^@ NM_017662.4(TRPM6):c.*750_*751delAT http://identifiers.org/clinvar/312072 ^@ NM_207361.5(FREM2):c.*2458G>C http://identifiers.org/clinvar/298596 ^@ NM_016169.3(SUFU):c.*1936C>T http://identifiers.org/clinvar/298646 ^@ NM_017649.4(CNNM2):c.2012C>T (p.Ala671Val) http://identifiers.org/clinvar/298696 ^@ NM_000494.3(COL17A1):c.3418+8T>A http://identifiers.org/clinvar/312572 ^@ NM_005708.4(GPC6):c.*1169T>C http://identifiers.org/clinvar/298796 ^@ NM_001134363.2(RBM20):c.1429+10G>T http://identifiers.org/clinvar/312622 ^@ NM_001376.4(DYNC1H1):c.2071A>C (p.Met691Leu) http://identifiers.org/clinvar/298546 ^@ NM_022039.3(FBXW4):c.-113G>A http://identifiers.org/clinvar/298746 ^@ NM_000494.3(COL17A1):c.630G>A (p.Thr210=) http://identifiers.org/clinvar/298896 ^@ NM_004132.4(HABP2):c.95G>T (p.Ser32Ile) http://identifiers.org/clinvar/298946 ^@ NM_004132.4(HABP2):c.*1160G>A http://identifiers.org/clinvar/314261 ^@ NM_000428.2(LTBP2):c.*167G>A http://identifiers.org/clinvar/314811 ^@ NM_018319.3(TDP1):c.-276_-274dupCCG http://identifiers.org/clinvar/315061 ^@ NM_177438.2(DICER1):c.*2811T>C http://identifiers.org/clinvar/315311 ^@ NM_139057.3(ADAMTS17):c.756C>T (p.Ala252=) http://identifiers.org/clinvar/309628 ^@ NM_000423.2(KRT2):c.133C>T (p.Arg45Cys) http://identifiers.org/clinvar/329244 ^@ NM_181882.2(PRX):c.*144C>T http://identifiers.org/clinvar/317661 ^@ NM_000875.4(IGF1R):c.*6974A>G http://identifiers.org/clinvar/309728 ^@ NM_015665.5(AAAS):c.1244T>C (p.Met415Thr) http://identifiers.org/clinvar/317761 ^@ NM_004862.3(LITAF):c.*904G>A http://identifiers.org/clinvar/317811 ^@ NM_005236.2(ERCC4):c.1284G>A (p.Ala428=) http://identifiers.org/clinvar/309878 ^@ NM_012064.3(MIP):c.*342C>T http://identifiers.org/clinvar/318061 ^@ NM_001143979.1(NDE1):c.632C>T (p.Ser211Phe) http://identifiers.org/clinvar/310078 ^@ NM_000552.4(VWF):c.1945+15T>A http://identifiers.org/clinvar/318563 ^@ NM_001089.2(ABCA3):c.942C>G (p.Leu314=) http://identifiers.org/clinvar/318463 ^@ NM_153603.3(COG7):c.2052G>A (p.Ser684=) http://identifiers.org/clinvar/318663 ^@ NM_020705.2(TBC1D24):c.*2548T>C http://identifiers.org/clinvar/318763 ^@ NM_003321.4(TUFM):c.-132G>A http://identifiers.org/clinvar/318863 ^@ NM_006662.2(SRCAP):c.1611G>C (p.Gln537His) http://identifiers.org/clinvar/312122 ^@ NM_207361.5(FREM2):c.*6289C>T http://identifiers.org/clinvar/312272 ^@ NM_003850.2(SUCLA2):c.68C>G (p.Thr23Arg) http://identifiers.org/clinvar/312322 ^@ NM_024570.3(RNASEH2B):c.-313C>G http://identifiers.org/clinvar/312422 ^@ NM_001004127.2(ALG11):c.*468G>T http://identifiers.org/clinvar/312672 ^@ NM_001376.4(DYNC1H1):c.*232C>T http://identifiers.org/clinvar/319753 ^@ NM_004530.5(MMP2):c.1066C>T (p.Leu356=) http://identifiers.org/clinvar/320003 ^@ NM_020312.3(COQ9):c.-25C>T http://identifiers.org/clinvar/312872 ^@ NM_002471.3(MYH6):c.2363C>T (p.Thr788Met) http://identifiers.org/clinvar/320103 ^@ NM_001297.4(CNGB1):c.761+15A>G http://identifiers.org/clinvar/338709 ^@ NM_006420.2(ARFGEF2):c.*70C>T http://identifiers.org/clinvar/320153 ^@ NM_004614.4(TK2):c.*485C>G http://identifiers.org/clinvar/338760 ^@ NM_020436.4(SALL4):c.*125T>A http://identifiers.org/clinvar/320303 ^@ NM_032382.4(COG8):c.*506C>T http://identifiers.org/clinvar/320603 ^@ NM_021615.4(CHST6):c.1030C>T (p.Arg344Cys) http://identifiers.org/clinvar/311872 ^@ NM_001127217.2(SMAD9):c.*793C>G http://identifiers.org/clinvar/311922 ^@ NM_001127217.2(SMAD9):c.-264C>G http://identifiers.org/clinvar/320803 ^@ NM_001451.2(FOXF1):c.*309_*310insT http://identifiers.org/clinvar/320953 ^@ NM_001127464.2(ZNF469):c.6304C>G (p.Leu2102Val) http://identifiers.org/clinvar/312172 ^@ NM_014252.3(SLC25A15):c.-167G>A http://identifiers.org/clinvar/321353 ^@ NM_000135.2(FANCA):c.1901-9T>G http://identifiers.org/clinvar/314011 ^@ NM_031427.3(DNAL1):c.-155C>T http://identifiers.org/clinvar/314111 ^@ NM_031427.3(DNAL1):c.*5981G>A http://identifiers.org/clinvar/312472 ^@ NM_000115.4(EDNRB):c.318T>C (p.Val106=) http://identifiers.org/clinvar/342110 ^@ NM_015166.3(MLC1):c.35A>C (p.Tyr12Ser) http://identifiers.org/clinvar/367861 ^@ NM_001167.3(XIAP):c.*6251C>T http://identifiers.org/clinvar/368011 ^@ NM_000133.3(F9):c.*794A>G http://identifiers.org/clinvar/368061 ^@ NM_000033.3(ABCD1):c.*564G>A http://identifiers.org/clinvar/368111 ^@ NM_000132.3(F8):c.*426G>A http://identifiers.org/clinvar/368311 ^@ NM_006915.2(RP2):c.*808delT http://identifiers.org/clinvar/368361 ^@ NM_153380.3(ZNF41):c.1997C>T (p.Ala666Val) http://identifiers.org/clinvar/368411 ^@ NM_007137.3(ZNF81):c.*802C>T http://identifiers.org/clinvar/368461 ^@ NM_003179.2(SYP):c.*727G>A http://identifiers.org/clinvar/368511 ^@ NM_000084.4(CLCN5):c.*3071A>G http://identifiers.org/clinvar/368561 ^@ NM_006306.3(SMC1A):c.*3671C>T http://identifiers.org/clinvar/368711 ^@ NM_153252.4(BRWD3):c.*2323G>A http://identifiers.org/clinvar/329194 ^@ NM_033064.4(ATCAY):c.*2356C>T http://identifiers.org/clinvar/338459 ^@ NM_000457.4(HNF4A):c.*1299_*1306delTCCTCCCT http://identifiers.org/clinvar/338009 ^@ NM_006899.4(IDH3B):c.*212A>G http://identifiers.org/clinvar/338509 ^@ NM_000022.3(ADA):c.591T>A (p.His197Gln) http://identifiers.org/clinvar/338559 ^@ NM_004994.2(MMP9):c.2003G>A (p.Arg668Gln) http://identifiers.org/clinvar/338810 ^@ NM_000782.4(CYP24A1):c.*50C>T http://identifiers.org/clinvar/383922 ^@ NM_018238.3(AGK):c.671A>G (p.Tyr224Cys) http://identifiers.org/clinvar/383671 ^@ NM_020822.2(KCNT1):c.854+10G>A http://identifiers.org/clinvar/386262 ^@ NM_020822.2(KCNT1):c.2730-15G>A http://identifiers.org/clinvar/382269 ^@ NM_020987.4(ANK3):c.6697G>T (p.Val2233Phe) http://identifiers.org/clinvar/385962 ^@ NM_000136.2(FANCC):c.166-18T>C http://identifiers.org/clinvar/387701 ^@ NM_000051.3(ATM):c.6342C>T (p.Ser2114=) http://identifiers.org/clinvar/379724 ^@ NM_018972.2(GDAP1):c.693A>T (p.Pro231=) http://identifiers.org/clinvar/382118 ^@ NM_000391.3(TPP1):c.1515A>G (p.Pro505=) http://identifiers.org/clinvar/388751 ^@ NM_004990.3(MARS):c.1209C>T (p.Gly403=) http://identifiers.org/clinvar/382319 ^@ NM_002973.3(ATXN2):c.2336A>T (p.Glu779Val) http://identifiers.org/clinvar/388051 ^@ NM_020822.2(KCNT1):c.855-7G>A http://identifiers.org/clinvar/388301 ^@ NM_012309.4(SHANK2):c.912+2319C>A http://identifiers.org/clinvar/385912 ^@ NM_007327.3(GRIN1):c.864G>A (p.Val288=) http://identifiers.org/clinvar/380225 ^@ NM_006231.3(POLE):c.2340G>A (p.Ser780=) http://identifiers.org/clinvar/382369 ^@ NM_001698.2(AUH):c.655+15C>T http://identifiers.org/clinvar/382820 ^@ NM_001134363.2(RBM20):c.1668+12T>G http://identifiers.org/clinvar/379824 ^@ NM_000059.3(BRCA2):c.6132C>A (p.Gly2044=) http://identifiers.org/clinvar/388201 ^@ NM_000138.4(FBN1):c.863-3C>T http://identifiers.org/clinvar/382219 ^@ NM_000126.3(ETFA):c.-42C>T http://identifiers.org/clinvar/384072 ^@ NM_022489.3(INF2):c.508-13G>A http://identifiers.org/clinvar/390840 ^@ NM_002471.3(MYH6):c.3420C>T (p.Asp1140=) http://identifiers.org/clinvar/391140 ^@ NM_020778.4(ALPK3):c.3134G>A (p.Arg1045Gln) http://identifiers.org/clinvar/386012 ^@ NM_000051.3(ATM):c.8584+13T>C http://identifiers.org/clinvar/390290 ^@ NM_001271.3(CHD2):c.3456-19C>T http://identifiers.org/clinvar/390940 ^@ NM_001909.4(CTSD):c.534C>G (p.Val178=) http://identifiers.org/clinvar/392429 ^@ NM_001909.4(CTSD):c.489G>A (p.Ala163=) http://identifiers.org/clinvar/388001 ^@ NM_022489.3(INF2):c.782G>A (p.Arg261Gln) http://identifiers.org/clinvar/384022 ^@ NM_000256.3(MYBPC3):c.3814+1G>A http://identifiers.org/clinvar/380426 ^@ NM_000548.4(TSC2):c.4332C>T (p.Pro1444=) http://identifiers.org/clinvar/386412 ^@ NM_000257.3(MYH7):c.-24C>T http://identifiers.org/clinvar/385762 ^@ NM_003978.4(PSTPIP1):c.838+10G>A http://identifiers.org/clinvar/388401 ^@ NM_004360.4(CDH1):c.1137+20G>A http://identifiers.org/clinvar/379925 ^@ NM_170665.3(ATP2A2):c.2384A>G (p.Asn795Ser) http://identifiers.org/clinvar/385512 ^@ NM_013275.5(ANKRD11):c.6923G>T (p.Gly2308Val) http://identifiers.org/clinvar/391240 ^@ NM_003978.4(PSTPIP1):c.837C>G (p.Pro279=) http://identifiers.org/clinvar/47427 ^@ NM_133378.4(TTN):c.75907A>T (p.Thr25303Ser) http://identifiers.org/clinvar/47477 ^@ NM_133378.4(TTN):c.80690C>T (p.Ser26897Phe) http://identifiers.org/clinvar/47527 ^@ TTN:c.8492G>A (p.Ser2831Asn) http://identifiers.org/clinvar/47577 ^@ NM_001256850.1(TTN):c.92075G>A (p.Arg30692His) http://identifiers.org/clinvar/47627 ^@ NM_133378.4(TTN):c.92713G>A (p.Gly30905Ser) http://identifiers.org/clinvar/47677 ^@ NM_001256850.1(TTN):c.99846A>C (p.Thr33282=) http://identifiers.org/clinvar/47727 ^@ NM_001256850.1(TTN):c.10360+1283C>T http://identifiers.org/clinvar/47777 ^@ NM_133379.4(TTN):c.14806A>T (p.Thr4936Ser) http://identifiers.org/clinvar/47827 ^@ NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) http://identifiers.org/clinvar/47877 ^@ NM_138691.2(TMC1):c.760G>A (p.Val254Ile) http://identifiers.org/clinvar/47927 ^@ NM_144612.6(LOXHD1):c.2223C>T (p.Leu741=) http://identifiers.org/clinvar/47977 ^@ NM_005709.3(USH1C):c.127G>A (p.Val43Met) http://identifiers.org/clinvar/48029 ^@ NM_005572.3(LMNA):c.1111_1125delATGGAGATCCACGCC (p.Met371_Ala375del) http://identifiers.org/clinvar/48079 ^@ NM_005572.3(LMNA):c.763delC (p.Gln255Argfs) http://identifiers.org/clinvar/48129 ^@ NM_173477.4(USH1G):c.251T>C (p.Leu84Pro) http://identifiers.org/clinvar/108 ^@ NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) http://identifiers.org/clinvar/171 ^@ NM_000274.3(OAT):c.1172G>A (p.Trp391Ter) http://identifiers.org/clinvar/235 ^@ NM_000398.6(CYB5R3):c.173G>A (p.Arg58Gln) http://identifiers.org/clinvar/258 ^@ NM_004628.4(XPC):c.566_567delAT (p.Tyr189Serfs) http://identifiers.org/clinvar/410 ^@ NM_032273.3(TMEM126A):c.163C>T (p.Arg55Ter) http://identifiers.org/clinvar/451 ^@ NM_000097.5(CPOX):c.991C>T (p.Arg331Trp) http://identifiers.org/clinvar/510 ^@ NM_001142446.1(ANK1):c.5620C>T (p.Arg1874Ter) http://identifiers.org/clinvar/651 ^@ NM_000130.4(F5):c.3481C>T (p.Arg1161Ter) http://identifiers.org/clinvar/683 ^@ NM_000147.4(FUCA1):c.1138G>T (p.Glu380Ter) http://identifiers.org/clinvar/692 ^@ NM_000147.4(FUCA1):c.1229T>G (p.Leu410Arg) http://identifiers.org/clinvar/972 ^@ NM_001113378.1(FANCI):c.3854G>A (p.Arg1285Gln) http://identifiers.org/clinvar/981 ^@ NM_024782.2(NHEJ1):c.169C>G (p.Arg57Gly) http://identifiers.org/clinvar/995 ^@ NM_000380.3(XPA):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/1089 ^@ NM_017791.2(FLVCR2):c.1192C>G (p.Leu398Val) http://identifiers.org/clinvar/1665 ^@ CYP27B1, 7-BP DUP http://identifiers.org/clinvar/2030 ^@ NM_017780.3(CHD7):c.1666-3238A>G http://identifiers.org/clinvar/2076 ^@ NM_020435.3(GJC2):c.914_947del34 (p.Pro305Argfs) http://identifiers.org/clinvar/2168 ^@ NM_007214.4(SEC63):c.442_443insA (p.Ala148Aspfs) http://identifiers.org/clinvar/2213 ^@ GLIS2, IVS5DS, G-T, +1 http://identifiers.org/clinvar/2259 ^@ NM_000101.3(CYBA):c.354C>A (p.Ser118Arg) http://identifiers.org/clinvar/2304 ^@ NM_005609.3(PYGM):c.1187T>C (p.Leu396Pro) http://identifiers.org/clinvar/2396 ^@ ARG1, IVS4AS, A-G, -2 http://identifiers.org/clinvar/2440 ^@ NM_001173464.1(KIF21A):c.2839A>G (p.Met947Val) http://identifiers.org/clinvar/2487 ^@ UNC93B1, 781G-A http://identifiers.org/clinvar/2532 ^@ NM_144596.3(TTC8):c.115-2A>G http://identifiers.org/clinvar/2625 ^@ NM_001037633.1(SIL1):c.331C>T (p.Arg111Ter) http://identifiers.org/clinvar/2671 ^@ NM_182760.3(SUMF1):c.661delG (p.Ala221Glnfs) http://identifiers.org/clinvar/2718 ^@ NM_017671.4(FERMT1):c.862C>T (p.Arg288Ter) http://identifiers.org/clinvar/2763 ^@ NM_024312.4(GNPTAB):c.310C>T (p.Gln104Ter) http://identifiers.org/clinvar/2808 ^@ CLN8, 3-BP DEL, 180GAA http://identifiers.org/clinvar/2944 ^@ NM_014028.3(OSTM1):c.36T>A (p.Cys12Ter) http://identifiers.org/clinvar/2990 ^@ NM_000543.4(SMPD1):c.996delC (p.Phe333Serfs) http://identifiers.org/clinvar/3037 ^@ ATM, IVS61DS, 2-BP INS, +2TA http://identifiers.org/clinvar/3084 ^@ NM_000487.5(ARSA):c.1150G>A (p.Glu384Lys) http://identifiers.org/clinvar/3134 ^@ NM_000218.2(KCNQ1):c.922-1G>C http://identifiers.org/clinvar/3184 ^@ NM_017653.3(DYM):c.48C>G (p.Tyr16Ter) http://identifiers.org/clinvar/3229 ^@ NM_013382.5(POMT2):c.551C>T (p.Thr184Met) http://identifiers.org/clinvar/3278 ^@ CDC73, 4-BP DEL, 685AGAG http://identifiers.org/clinvar/10157 ^@ F8, 10-BP INS, FS http://identifiers.org/clinvar/10201 ^@ NM_000132.3(F8):c.986G>A (p.Cys329Tyr) http://identifiers.org/clinvar/10247 ^@ NM_000132.3(F8):c.2215G>A (p.Glu739Lys) http://identifiers.org/clinvar/10292 ^@ NM_000132.3(F8):c.5710G>A (p.Glu1904Lys) http://identifiers.org/clinvar/10337 ^@ F8, EX3-5DEL http://identifiers.org/clinvar/10386 ^@ NM_000402.4(G6PD):c.961G>A (p.Val321Met) http://identifiers.org/clinvar/10434 ^@ NM_001097642.2(GJB1):c.397T>C (p.Trp133Arg) http://identifiers.org/clinvar/10482 ^@ NM_000032.4(ALAS2):c.1706_1709delAGTG (p.Glu569Glyfs) http://identifiers.org/clinvar/10528 ^@ NM_000292.2(PHKA2):c.2296C>T (p.Gln766Ter) http://identifiers.org/clinvar/10573 ^@ NM_000133.3(F9):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/10618 ^@ NM_000133.3(F9):c.1088G>T (p.Gly363Val) http://identifiers.org/clinvar/10663 ^@ F9, 17747G-A http://identifiers.org/clinvar/10709 ^@ NM_001008222.2(ZDHHC9):c.172_175delCGCT (p.Arg58Thrfs) http://identifiers.org/clinvar/10754 ^@ GLA, 1-BP INS, NT1040 http://identifiers.org/clinvar/10844 ^@ NM_000054.4(AVPR2):c.1009C>T (p.Arg337Ter) http://identifiers.org/clinvar/10935 ^@ CYBB, 252G-A http://identifiers.org/clinvar/10981 ^@ NM_001032383.1(PQBP1):c.461_462delAG (p.Glu154Alafs) http://identifiers.org/clinvar/11025 ^@ NM_198270.3(NHS):c.1117C>T (p.Arg373Ter) http://identifiers.org/clinvar/11070 ^@ NM_001015877.1(PHF6):c.22A>T (p.Lys8Ter) http://identifiers.org/clinvar/11447 ^@ IKBKG, EXON 4-10 DEL http://identifiers.org/clinvar/11498 ^@ CDKL5, 4-BP DEL, 166GAAA http://identifiers.org/clinvar/11549 ^@ FHL1, 3-BP INS, 381ATC http://identifiers.org/clinvar/11599 ^@ NM_178152.2(DCX):c.373T>C (p.Tyr125His) http://identifiers.org/clinvar/11649 ^@ NM_004541.3(NDUFA1):c.111G>C (p.Arg37Ser) http://identifiers.org/clinvar/11700 ^@ NM_005629.3(SLC6A8):c.259G>A (p.Gly87Arg) http://identifiers.org/clinvar/11751 ^@ NM_001110556.1(FLNA):c.287_291delGGCCC (p.Arg96Hisfs) http://identifiers.org/clinvar/11802 ^@ NM_000084.4(CLCN5):c.731C>T (p.Ser244Leu) http://identifiers.org/clinvar/11852 ^@ NM_000260.3(MYO7A):c.905G>A (p.Arg302His) http://identifiers.org/clinvar/11902 ^@ NM_000128.3(F11):c.809A>T (p.Lys270Ile) http://identifiers.org/clinvar/11952 ^@ NM_001918.3(DBT):c.1355A>G (p.His452Arg) http://identifiers.org/clinvar/12004 ^@ NM_000151.3(G6PC):c.113A>T (p.Asp38Val) http://identifiers.org/clinvar/12054 ^@ NM_000504.3(F10):c.813delC (p.Leu272Terfs) http://identifiers.org/clinvar/12104 ^@ C7, 2-BP DEL, 2137TG http://identifiers.org/clinvar/12154 ^@ NM_000500.7(CYP21A2):c.806G>C (p.Ser269Thr) http://identifiers.org/clinvar/12209 ^@ NM_000490.4(AVP):c.277G>T (p.Gly93Trp) http://identifiers.org/clinvar/12260 ^@ NM_003361.3(UMOD):c.383A>G (p.Asn128Ser) http://identifiers.org/clinvar/13009 ^@ GRK1, EX5DEL http://identifiers.org/clinvar/13060 ^@ NM_000324.2(RHAG):c.836G>A (p.Gly279Glu) http://identifiers.org/clinvar/13111 ^@ NM_000440.2(PDE6A):c.1032C>A (p.Ser344Arg) http://identifiers.org/clinvar/13161 ^@ NM_000448.2(RAG1):c.2326C>T (p.Arg776Trp) http://identifiers.org/clinvar/13213 ^@ NM_003018.3(SFTPC):c.196G>A (p.Glu66Lys) http://identifiers.org/clinvar/13264 ^@ NM_000141.4(FGFR2):c.1018T>C (p.Tyr340His) http://identifiers.org/clinvar/13315 ^@ NM_002827.3(PTPN1):c.*104dupG http://identifiers.org/clinvar/13365 ^@ NM_001042465.2(PSAP):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/13419 ^@ NM_000371.3(TTR):c.401A>G (p.Tyr134Cys) http://identifiers.org/clinvar/13471 ^@ NM_002234.3(KCNA5):c.1727C>T (p.Ala576Val) http://identifiers.org/clinvar/13521 ^@ NM_000297.3(PKD2):c.1390C>T (p.Arg464Ter) http://identifiers.org/clinvar/242228 ^@ NM_198253.2(TERT):c.2371G>A (p.Val791Ile) http://identifiers.org/clinvar/37074 ^@ NM_001197104.1(KMT2A):c.7144C>T (p.Arg2382Ter) http://identifiers.org/clinvar/37139 ^@ NM_022787.3(NMNAT1):c.457C>G (p.Leu153Val) http://identifiers.org/clinvar/37290 ^@ NM_020921.3(NIN):c.3665A>G (p.Gln1222Arg) http://identifiers.org/clinvar/37375 ^@ NM_000257.3(MYH7):c.77C>T (p.Ala26Val) http://identifiers.org/clinvar/37426 ^@ NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) http://identifiers.org/clinvar/37749 ^@ NM_000059.3(BRCA2):c.1600G>A (p.Glu534Lys) http://identifiers.org/clinvar/37803 ^@ NM_000059.3(BRCA2):c.280C>T (p.Pro94Ser) http://identifiers.org/clinvar/37854 ^@ NM_000059.3(BRCA2):c.370A>C (p.Met124Leu) http://identifiers.org/clinvar/37908 ^@ NM_000059.3(BRCA2):c.451G>A (p.Val151Ile) http://identifiers.org/clinvar/37960 ^@ NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs) http://identifiers.org/clinvar/38012 ^@ NM_000059.3(BRCA2):c.5986G>T (p.Ala1996Ser) http://identifiers.org/clinvar/38067 ^@ NM_000059.3(BRCA2):c.682-12_682-11delTA http://identifiers.org/clinvar/38117 ^@ NM_000059.3(BRCA2):c.7762_7764delATAins2 http://identifiers.org/clinvar/38167 ^@ NM_000059.3(BRCA2):c.8548_8551delGAAG (p.Glu2850Glnfs) http://identifiers.org/clinvar/38217 ^@ NM_000059.3(BRCA2):c.9155G>A (p.Arg3052Gln) http://identifiers.org/clinvar/38267 ^@ NM_000059.3(BRCA2):c.998dupT (p.His334Profs) http://identifiers.org/clinvar/38329 ^@ NM_001146040.1(GLRA1):c.737G>A (p.Arg246Gln) http://identifiers.org/clinvar/38386 ^@ NM_005247.2(FGF3):c.394delC (p.Arg132Glyfs) http://identifiers.org/clinvar/38444 ^@ NM_139241.2(FGD4):c.1698G>H http://identifiers.org/clinvar/38610 ^@ NM_020630.4(RET):c.2098A>T (p.Met700Leu) http://identifiers.org/clinvar/38769 ^@ NM_000495.4(COL4A5):c.2696_2705delGTATGATGGG (p.Gly899Aspfs) http://identifiers.org/clinvar/38882 ^@ NM_000532.4(PCCB):c.280G>T (p.Gly94Ter) http://identifiers.org/clinvar/38943 ^@ NM_001363.4(DKC1):c.127A>G (p.Lys43Glu) http://identifiers.org/clinvar/39152 ^@ NM_198578.3(LRRK2):c.2611A>G (p.Lys871Glu) http://identifiers.org/clinvar/39202 ^@ NM_198578.3(LRRK2):c.4959A>G (p.Leu1653=) http://identifiers.org/clinvar/39253 ^@ NM_207352.3(CYP4V2):c.1198C>T (p.Arg400Cys) http://identifiers.org/clinvar/39466 ^@ NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) http://identifiers.org/clinvar/40666 ^@ NM_005633.3(SOS1):c.1269C>G (p.Asn423Lys) http://identifiers.org/clinvar/40754 ^@ NM_002755.3(MAP2K1):c.711G>A (p.Gly237=) http://identifiers.org/clinvar/40871 ^@ NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) http://identifiers.org/clinvar/41022 ^@ NM_000530.7(MPZ):c.487G>C (p.Gly163Arg) http://identifiers.org/clinvar/41078 ^@ NM_003611.2(OFD1):c.1360_1363delCTTA (p.Leu454Asnfs) http://identifiers.org/clinvar/41134 ^@ NM_003611.2(OFD1):c.653delA (p.Lys218Serfs) http://identifiers.org/clinvar/41186 ^@ NM_003977.3(AIP):c.500delC (p.Pro167Hisfs) http://identifiers.org/clinvar/51606 ^@ NM_000059.3(BRCA2):c.4151delT (p.Leu1384Cysfs) http://identifiers.org/clinvar/51658 ^@ NM_000059.3(BRCA2):c.4513A>G (p.Thr1505Ala) http://identifiers.org/clinvar/51710 ^@ NM_000059.3(BRCA2):c.475+3A>G http://identifiers.org/clinvar/51760 ^@ NM_000059.3(BRCA2):c.5051C>G (p.Thr1684Ser) http://identifiers.org/clinvar/51812 ^@ NM_000059.3(BRCA2):c.5197dupT (p.Ser1733Phefs) http://identifiers.org/clinvar/51865 ^@ NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) http://identifiers.org/clinvar/51918 ^@ NM_000059.3(BRCA2):c.5728_5730delAAT (p.Asn1910del) http://identifiers.org/clinvar/51969 ^@ NM_000059.3(BRCA2):c.5946_5949delTGGA (p.Ser1982Argfs) http://identifiers.org/clinvar/52020 ^@ NM_000059.3(BRCA2):c.6154delT (p.Ser2052Hisfs) http://identifiers.org/clinvar/52072 ^@ NM_000059.3(BRCA2):c.6353_6366delTAAACTCAGAAATG (p.Val2118Glyfs) http://identifiers.org/clinvar/52125 ^@ NM_000059.3(BRCA2):c.6547G>T (p.Glu2183Ter) http://identifiers.org/clinvar/52176 ^@ NM_000059.3(BRCA2):c.6754dupT (p.Ser2252Phefs) http://identifiers.org/clinvar/52226 ^@ NM_000059.3(BRCA2):c.6956G>C (p.Arg2319Thr) http://identifiers.org/clinvar/52278 ^@ NM_000059.3(BRCA2):c.7177dupA (p.Met2393Asnfs) http://identifiers.org/clinvar/52328 ^@ NM_000059.3(BRCA2):c.7436-14T>G http://identifiers.org/clinvar/52378 ^@ NM_000059.3(BRCA2):c.7655_7658delTTAA (p.Ile2552Thrfs) http://identifiers.org/clinvar/52429 ^@ NM_000059.3(BRCA2):c.7872_7873delTA (p.Tyr2624Terfs) http://identifiers.org/clinvar/52479 ^@ NM_000059.3(BRCA2):c.8032_8033dupAG (p.Asp2679Glyfs) http://identifiers.org/clinvar/52529 ^@ NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) http://identifiers.org/clinvar/52580 ^@ NM_000059.3(BRCA2):c.8415dupA (p.Ser2806Ilefs) http://identifiers.org/clinvar/52631 ^@ NM_000059.3(BRCA2):c.8594dupT (p.Leu2865Phefs) http://identifiers.org/clinvar/52682 ^@ NM_000059.3(BRCA2):c.8808G>C (p.Leu2936Phe) http://identifiers.org/clinvar/52732 ^@ NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) http://identifiers.org/clinvar/52783 ^@ NM_000059.3(BRCA2):c.9247A>T (p.Lys3083Ter) http://identifiers.org/clinvar/52834 ^@ NM_000059.3(BRCA2):c.9425A>G (p.Asp3142Gly) http://identifiers.org/clinvar/52885 ^@ NM_000059.3(BRCA2):c.9649-2A>G http://identifiers.org/clinvar/53739 ^@ NM_000492.3(CFTR):c.3421_3424dupAGTA (p.Thr1142Lysfs) http://identifiers.org/clinvar/53790 ^@ NM_000492.3(CFTR):c.3717+45G>A http://identifiers.org/clinvar/53844 ^@ NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile) http://identifiers.org/clinvar/53894 ^@ NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) http://identifiers.org/clinvar/54197 ^@ NM_007294.3(BRCA1):c.1319delT (p.Leu440Terfs) http://identifiers.org/clinvar/54247 ^@ NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) http://identifiers.org/clinvar/54298 ^@ NM_007294.3(BRCA1):c.1573G>A (p.Val525Ile) http://identifiers.org/clinvar/54348 ^@ NM_007294.3(BRCA1):c.1789G>T (p.Glu597Ter) http://identifiers.org/clinvar/54399 ^@ NM_007294.3(BRCA1):c.1916T>A (p.Leu639Ter) http://identifiers.org/clinvar/54449 ^@ NM_007294.3(BRCA1):c.2063_2066delCAAG (p.Thr688Ilefs) http://identifiers.org/clinvar/54499 ^@ NM_007294.3(BRCA1):c.220C>T (p.Gln74Ter) http://identifiers.org/clinvar/54549 ^@ NM_007294.3(BRCA1):c.2359dupG (p.Glu787Glyfs) http://identifiers.org/clinvar/54599 ^@ NM_007294.3(BRCA1):c.2558dupA (p.Asp853Glufs) http://identifiers.org/clinvar/54649 ^@ NM_007294.3(BRCA1):c.2692A>G (p.Lys898Glu) http://identifiers.org/clinvar/54699 ^@ NM_007294.3(BRCA1):c.2848dupT (p.Ser950Phefs) http://identifiers.org/clinvar/54749 ^@ NM_007294.3(BRCA1):c.3018_3021delTTCA (p.His1006Glnfs) http://identifiers.org/clinvar/54799 ^@ NM_007294.3(BRCA1):c.321delT (p.Phe107Leufs) http://identifiers.org/clinvar/54849 ^@ NM_007294.3(BRCA1):c.3340G>T (p.Glu1114Ter) http://identifiers.org/clinvar/54899 ^@ NM_007294.3(BRCA1):c.3488C>T (p.Thr1163Ile) http://identifiers.org/clinvar/54950 ^@ NM_007294.3(BRCA1):c.3642_3643delGA (p.Asn1215Leufs) http://identifiers.org/clinvar/55002 ^@ NM_007294.3(BRCA1):c.3779delT (p.Leu1260Tyrfs) http://identifiers.org/clinvar/55052 ^@ NM_007294.3(BRCA1):c.3927_3930delTACA (p.Asn1309Lysfs) http://identifiers.org/clinvar/55103 ^@ NM_007294.3(BRCA1):c.4097-2A>G http://identifiers.org/clinvar/102448 ^@ NM_001040147.2(SERPINB7):c.455-1G>A http://identifiers.org/clinvar/102504 ^@ NM_000277.1(PAH):c.1065+3A>C http://identifiers.org/clinvar/102562 ^@ NM_000277.1(PAH):c.1199G>C (p.Arg400Thr) http://identifiers.org/clinvar/102613 ^@ NM_000277.1(PAH):c.169_171delGAG (p.Glu57del) http://identifiers.org/clinvar/102668 ^@ NM_000277.1(PAH):c.436C>T (p.His146Tyr) http://identifiers.org/clinvar/102719 ^@ NM_000277.1(PAH):c.517C>A (p.Pro173Thr) http://identifiers.org/clinvar/102769 ^@ NM_000277.1(PAH):c.648C>G (p.Tyr216Ter) http://identifiers.org/clinvar/102820 ^@ NM_000277.1(PAH):c.743T>G (p.Leu248Arg) http://identifiers.org/clinvar/102872 ^@ NM_000277.1(PAH):c.842+5G>A http://identifiers.org/clinvar/102922 ^@ NM_000277.1(PAH):c.981T>G (p.Phe327Leu) http://identifiers.org/clinvar/102980 ^@ NM_144687.3(NLRP12):c.2072+738G>T http://identifiers.org/clinvar/103030 ^@ NM_001033053.2(NLRP1):c.4069+2512A>G http://identifiers.org/clinvar/103080 ^@ NM_001199138.1(NLRC4):c.2522-35A>T http://identifiers.org/clinvar/103130 ^@ NM_024618.3(NLRX1):c.-47A>G http://identifiers.org/clinvar/103180 ^@ NM_032206.4(NLRC5):c.3506+7C>T http://identifiers.org/clinvar/103230 ^@ NM_138329.2(NLRP6):c.1665G>A (p.Arg555=) http://identifiers.org/clinvar/103280 ^@ NM_153447.4(NLRP5):c.1384C>T (p.Arg462Cys) http://identifiers.org/clinvar/103330 ^@ NM_176811.2(NLRP8):c.284G>C (p.Arg95Pro) http://identifiers.org/clinvar/111204 ^@ NM_000416.2(IFNGR1):c.*313delC http://identifiers.org/clinvar/111254 ^@ NM_005534.3(IFNGR2):c.722-91A>T http://identifiers.org/clinvar/120212 ^@ NM_001955.4(EDN1):c.271A>G (p.Lys91Glu) http://identifiers.org/clinvar/120266 ^@ NM_000277.1(PAH):c.164T>C (p.Phe55Ser) http://identifiers.org/clinvar/120316 ^@ NM_004996.3(ABCC1):c.596C>T (p.Ser199Leu) http://identifiers.org/clinvar/125474 ^@ NM_007294.3(BRCA1):c.-19-5T>C http://identifiers.org/clinvar/125553 ^@ NM_007294.3(BRCA1):c.2309C>T (p.Ser770Leu) http://identifiers.org/clinvar/125635 ^@ NM_007294.3(BRCA1):c.3516_3517ins100 (p.?) http://identifiers.org/clinvar/125703 ^@ NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) http://identifiers.org/clinvar/127518 ^@ NM_000057.3(BLM):c.968A>G (p.Lys323Arg) http://identifiers.org/clinvar/127568 ^@ NM_000179.2(MSH6):c.2171C>G (p.Ala724Gly) http://identifiers.org/clinvar/127619 ^@ NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu) http://identifiers.org/clinvar/127675 ^@ NM_000314.6(PTEN):c.-821G>C http://identifiers.org/clinvar/127728 ^@ NM_000465.3(BARD1):c.1994A>G (p.Glu665Gly) http://identifiers.org/clinvar/127778 ^@ NM_000535.6(PMS2):c.2335G>A (p.Gly779Arg) http://identifiers.org/clinvar/161684 ^@ NM_014757.4(MAML1):c.1163G>T (p.Gly388Val) http://identifiers.org/clinvar/179113 ^@ NM_206933.2(USH2A):c.14332G>T (p.Ala4778Ser) http://identifiers.org/clinvar/179463 ^@ NM_001256850.1(TTN):c.94887C>T (p.Val31629=) http://identifiers.org/clinvar/179713 ^@ NM_133378.4(TTN):c.90980-10A>G http://identifiers.org/clinvar/179363 ^@ NM_133378.4(TTN):c.49252C>A (p.Pro16418Thr) http://identifiers.org/clinvar/179763 ^@ NM_133378.4(TTN):c.12046C>A (p.Pro4016Thr) http://identifiers.org/clinvar/179413 ^@ NM_133379.4(TTN):c.15520A>G (p.Ile5174Val) http://identifiers.org/clinvar/177803 ^@ NM_001927.3(DES):c.75A= (p.Pro25=) http://identifiers.org/clinvar/179513 ^@ NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?)) http://identifiers.org/clinvar/178605 ^@ NM_005219.4(DIAPH1):c.891G>A (p.Pro297=) http://identifiers.org/clinvar/179813 ^@ NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) http://identifiers.org/clinvar/179063 ^@ NM_198999.2(SLC26A5):c.1572C>T (p.Asp524=) http://identifiers.org/clinvar/180063 ^@ NM_001277115.1(DNAH11):c.6437G>A (p.Arg2146His) http://identifiers.org/clinvar/177651 ^@ NM_005228.4(EGFR):c.2238_2251delATTAAGAGAAGCAAinsGC (p.Leu747_Thr751delinsPro) http://identifiers.org/clinvar/177954 ^@ NM_005228.4(EGFR):c.2317_2318insCGAACCCCC (p.Pro772_His773insProAsnPro) http://identifiers.org/clinvar/177903 ^@ NM_016203.3(PRKAG2):c.1030C>T (p.His344Tyr) http://identifiers.org/clinvar/179213 ^@ NM_001277115.1(DNAH11):c.10009A>C (p.Ile3337Leu) http://identifiers.org/clinvar/198450 ^@ NM_000086.2(CLN3):c.393T>C (p.Ser131=) http://identifiers.org/clinvar/198503 ^@ NM_004006.2(DMD):c.627delA (p.Ile209Metfs) http://identifiers.org/clinvar/198555 ^@ NM_013382.5(POMT2):c.884C>T (p.Thr295Ile) http://identifiers.org/clinvar/198607 ^@ NM_054027.4(ANKH):c.846A>G (p.Thr282=) http://identifiers.org/clinvar/198658 ^@ NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) http://identifiers.org/clinvar/198709 ^@ NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) http://identifiers.org/clinvar/198764 ^@ NM_024549.5(TCTN1):c.892G>A (p.Val298Ile) http://identifiers.org/clinvar/198816 ^@ NM_005216.4(DDOST):c.866A>G (p.Tyr289Cys) http://identifiers.org/clinvar/198871 ^@ NM_015120.4(ALMS1):c.6963G>A (p.Gln2321=) http://identifiers.org/clinvar/198925 ^@ NM_198270.3(NHS):c.4797G>C (p.Arg1599=) http://identifiers.org/clinvar/198976 ^@ NM_033071.3(SYNE1):c.16879A>G (p.Ile5627Val) http://identifiers.org/clinvar/199027 ^@ NM_000489.4(ATRX):c.830T>G (p.Val277Gly) http://identifiers.org/clinvar/199077 ^@ NM_002335.3(LRP5):c.1968C>T (p.His656=) http://identifiers.org/clinvar/199132 ^@ NM_014639.3(TTC37):c.585G>A (p.Lys195=) http://identifiers.org/clinvar/199182 ^@ NM_015384.4(NIPBL):c.1392T>A (p.Pro464=) http://identifiers.org/clinvar/199238 ^@ NM_031935.2(HMCN1):c.15010A>T (p.Thr5004Ser) http://identifiers.org/clinvar/201278 ^@ NM_001035.2(RYR2):c.7189G>T (p.Asp2397Tyr) http://identifiers.org/clinvar/201392 ^@ NM_001035.2(RYR2):c.9161A>G (p.Lys3054Arg) http://identifiers.org/clinvar/201332 ^@ NM_001035.2(RYR2):c.12427A>C (p.Lys4143Gln) http://identifiers.org/clinvar/199741 ^@ NM_000090.3(COL3A1):c.3307G>C (p.Ala1103Pro) http://identifiers.org/clinvar/201500 ^@ NM_198056.2(SCN5A):c.3823G>T (p.Asp1275Tyr) http://identifiers.org/clinvar/201559 ^@ NM_198056.2(SCN5A):c.2533delG (p.Val845Cysfs) http://identifiers.org/clinvar/201445 ^@ NM_198056.2(SCN5A):c.820G>A (p.Gly274Ser) http://identifiers.org/clinvar/199848 ^@ NM_004415.3(DSP):c.273+3A>G http://identifiers.org/clinvar/199906 ^@ NM_004415.3(DSP):c.6907G>C (p.Asp2303His) http://identifiers.org/clinvar/200133 ^@ NM_000138.4(FBN1):c.8461A>C (p.Lys2821Gln) http://identifiers.org/clinvar/200075 ^@ NM_000138.4(FBN1):c.6164-2A>T http://identifiers.org/clinvar/200020 ^@ NM_000138.4(FBN1):c.3596A>G (p.Asp1199Gly) http://identifiers.org/clinvar/199965 ^@ NM_000138.4(FBN1):c.1148-2A>C http://identifiers.org/clinvar/199795 ^@ NM_001943.4(DSG2):c.98A>G (p.Asn33Ser) http://identifiers.org/clinvar/202120 ^@ NM_024334.2(TMEM43):c.751G>A (p.Asp251Asn) http://identifiers.org/clinvar/201947 ^@ NM_014476.5(PDLIM3):c.696C>T (p.Asp232=) http://identifiers.org/clinvar/201784 ^@ NM_021167.4(GATAD1):c.613A>G (p.Ile205Val) http://identifiers.org/clinvar/202061 ^@ NM_001134363.2(RBM20):c.1867C>T (p.Arg623Trp) http://identifiers.org/clinvar/201890 ^@ NM_032578.3(MYPN):c.3206G>A (p.Arg1069His) http://identifiers.org/clinvar/201839 ^@ NM_007078.2(LDB3):c.536A>G (p.Asp179Gly) http://identifiers.org/clinvar/201673 ^@ NM_014391.2(ANKRD1):c.449A>T (p.Asp150Val) http://identifiers.org/clinvar/201619 ^@ NM_020297.3(ABCC9):c.3473+4A>G http://identifiers.org/clinvar/202003 ^@ NM_004572.3(PKP2):c.202G>A (p.Gly68Ser) http://identifiers.org/clinvar/201729 ^@ NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) http://identifiers.org/clinvar/202227 ^@ NC_000018.9:g.(?_74241380)_(78013620_?)del http://identifiers.org/clinvar/202405 ^@ NM_001256850.1(TTN):c.69415C>T (p.Arg23139Ter) http://identifiers.org/clinvar/202460 ^@ NM_001256850.1(TTN):c.64722delT (p.Ser21574Argfs) http://identifiers.org/clinvar/230849 ^@ NM_005732.3(RAD50):c.232G>A (p.Val78Met) http://identifiers.org/clinvar/233791 ^@ NM_005732.3(RAD50):c.3373T>A (p.Tyr1125Asn) http://identifiers.org/clinvar/233239 ^@ NM_005732.3(RAD50):c.3929A>C (p.Asn1310Thr) http://identifiers.org/clinvar/230549 ^@ NM_000535.6(PMS2):c.1720C>G (p.Pro574Ala) http://identifiers.org/clinvar/230199 ^@ NM_000535.6(PMS2):c.164-4C>A http://identifiers.org/clinvar/230999 ^@ NM_004329.2(BMPR1A):c.309T>G (p.Tyr103Ter) http://identifiers.org/clinvar/230449 ^@ NM_004329.2(BMPR1A):c.430G>C (p.Gly144Arg) http://identifiers.org/clinvar/233741 ^@ NM_000314.6(PTEN):c.447A>G (p.Gln149=) http://identifiers.org/clinvar/233039 ^@ NM_000051.3(ATM):c.1751A>C (p.Gln584Pro) http://identifiers.org/clinvar/230299 ^@ NM_000051.3(ATM):c.3291C>G (p.Phe1097Leu) http://identifiers.org/clinvar/233689 ^@ NM_000051.3(ATM):c.4150C>A (p.His1384Asn) http://identifiers.org/clinvar/233639 ^@ NM_000051.3(ATM):c.4244A>G (p.Tyr1415Cys) http://identifiers.org/clinvar/233339 ^@ NM_000051.3(ATM):c.5665T>A (p.Leu1889Met) http://identifiers.org/clinvar/230399 ^@ NM_000051.3(ATM):c.5675-3C>G http://identifiers.org/clinvar/231049 ^@ NM_000051.3(ATM):c.7664A>G (p.His2555Arg) http://identifiers.org/clinvar/231099 ^@ NM_000051.3(ATM):c.8818_8821dupAACT (p.Ser2941Terfs) http://identifiers.org/clinvar/233489 ^@ NM_000059.3(BRCA2):c.47A>G (p.Lys16Arg) http://identifiers.org/clinvar/230949 ^@ NM_000059.3(BRCA2):c.834delC (p.Cys279Alafs) http://identifiers.org/clinvar/230349 ^@ NM_000059.3(BRCA2):c.1851A>C (p.Ser617=) http://identifiers.org/clinvar/233389 ^@ NM_000059.3(BRCA2):c.2231C>A (p.Ser744Ter) http://identifiers.org/clinvar/231249 ^@ NM_000059.3(BRCA2):c.2772C>T (p.Asn924=) http://identifiers.org/clinvar/233439 ^@ NM_000059.3(BRCA2):c.2956A>T (p.Asn986Tyr) http://identifiers.org/clinvar/230149 ^@ NM_000059.3(BRCA2):c.3351A>T (p.Ile1117=) http://identifiers.org/clinvar/234042 ^@ NM_000059.3(BRCA2):c.6781G>T (p.Glu2261Ter) http://identifiers.org/clinvar/230899 ^@ NM_000059.3(BRCA2):c.8264G>T (p.Gly2755Val) http://identifiers.org/clinvar/233842 ^@ NM_024675.3(PALB2):c.2630G>A (p.Trp877Ter) http://identifiers.org/clinvar/232989 ^@ NM_024675.3(PALB2):c.1020T>C (p.Asn340=) http://identifiers.org/clinvar/230599 ^@ NM_004360.4(CDH1):c.1796C>T (p.Thr599Ile) http://identifiers.org/clinvar/230049 ^@ NM_001042492.2(NF1):c.234T>A (p.Asn78Lys) http://identifiers.org/clinvar/230799 ^@ NM_001042492.2(NF1):c.948G>A (p.Leu316=) http://identifiers.org/clinvar/229999 ^@ NM_001042492.2(NF1):c.2188A>C (p.Asn730His) http://identifiers.org/clinvar/230699 ^@ NM_001042492.2(NF1):c.3362A>G (p.Glu1121Gly) http://identifiers.org/clinvar/233589 ^@ NM_001042492.2(NF1):c.3978A>T (p.Leu1326Phe) http://identifiers.org/clinvar/229949 ^@ NM_001042492.2(NF1):c.6082G>C (p.Ala2028Pro) http://identifiers.org/clinvar/232889 ^@ NM_002878.3(RAD51D):c.449T>G (p.Leu150Arg) http://identifiers.org/clinvar/230249 ^@ NM_007294.3(BRCA1):c.3035G>A (p.Arg1012Lys) http://identifiers.org/clinvar/232789 ^@ NM_007294.3(BRCA1):c.2960A>G (p.Lys987Arg) http://identifiers.org/clinvar/233289 ^@ NM_007294.3(BRCA1):c.1090C>A (p.Pro364Thr) http://identifiers.org/clinvar/233942 ^@ NM_032043.2(BRIP1):c.3360T>C (p.Asp1120=) http://identifiers.org/clinvar/232839 ^@ NM_032043.2(BRIP1):c.374G>C (p.Cys125Ser) http://identifiers.org/clinvar/233189 ^@ NM_000546.5(TP53):c.144C>T (p.Asp48=) http://identifiers.org/clinvar/233539 ^@ NM_000455.4(STK11):c.626C>A (p.Thr209Asn) http://identifiers.org/clinvar/232939 ^@ NM_007194.3(CHEK2):c.1520C>A (p.Ala507Asp) http://identifiers.org/clinvar/230649 ^@ NM_007194.3(CHEK2):c.1148C>A (p.Thr383Asn) http://identifiers.org/clinvar/235056 ^@ NM_001035.2(RYR2):c.9887T>C (p.Met3296Thr) http://identifiers.org/clinvar/235006 ^@ NC_012920.1:m.3548T>C http://identifiers.org/clinvar/235144 ^@ NM_152263.3(TPM3):c.657_659delAGA (p.Glu219del) http://identifiers.org/clinvar/235245 ^@ NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) http://identifiers.org/clinvar/235297 ^@ NM_000448.2(RAG1):c.2005G>A (p.Glu669Lys) http://identifiers.org/clinvar/235349 ^@ NM_014795.3(ZEB2):c.1115delA (p.Lys372Serfs) http://identifiers.org/clinvar/235404 ^@ NM_015311.2(OBSL1):c.4192G>A (p.Val1398Ile) http://identifiers.org/clinvar/235459 ^@ NM_147127.4(EVC2):c.2029C>A (p.Arg677=) http://identifiers.org/clinvar/235511 ^@ NC_012920.1:m.6260G>A http://identifiers.org/clinvar/235564 ^@ NM_002693.2(POLG):c.127_128insGGC (p.Arg42_Gln43insArg) http://identifiers.org/clinvar/235614 ^@ NM_000255.3(MUT):c.781A>G (p.Ile261Val) http://identifiers.org/clinvar/235667 ^@ NM_021625.4(TRPV4):c.114T>A (p.Asn38Lys) http://identifiers.org/clinvar/235727 ^@ NM_005559.3(LAMA1):c.2657C>T (p.Ala886Val) http://identifiers.org/clinvar/235783 ^@ NC_012920.1:m.5951A>G http://identifiers.org/clinvar/235854 ^@ NM_033517.1(SHANK3):c.2909_2924dup16 (p.Pro976Argfs) http://identifiers.org/clinvar/236038 ^@ NM_016239.3(MYO15A):c.8340G>A (p.Thr2780=) http://identifiers.org/clinvar/236138 ^@ NM_000350.2(ABCA4):c.5714+4C>T http://identifiers.org/clinvar/236088 ^@ NM_000350.2(ABCA4):c.1891G>A (p.Gly631Arg) http://identifiers.org/clinvar/236188 ^@ NM_014625.3(NPHS2):c.104G>A (p.Gly35Asp) http://identifiers.org/clinvar/236276 ^@ NM_000059.3(BRCA2):c.160_161delAA (p.Asn54Glnfs) http://identifiers.org/clinvar/236327 ^@ NC_000022.9:g.21995356_23326630dup1331275 http://identifiers.org/clinvar/239438 ^@ NM_003000.2(SDHB):c.710C>G (p.Pro237Arg) http://identifiers.org/clinvar/241428 ^@ NM_022114.3(PRDM16):c.3102C>T (p.Asn1034=) http://identifiers.org/clinvar/242028 ^@ NM_174936.3(PCSK9):c.720C>T (p.Gly240=) http://identifiers.org/clinvar/241978 ^@ NM_152383.4(DIS3L2):c.309T>C (p.Asn103=) http://identifiers.org/clinvar/239838 ^@ NM_004304.4(ALK):c.4536A>G (p.Thr1512=) http://identifiers.org/clinvar/239135 ^@ NM_002354.2(EPCAM):c.601C>G (p.Gln201Glu) http://identifiers.org/clinvar/240978 ^@ NM_015120.4(ALMS1):c.11604C>T (p.Phe3868=) http://identifiers.org/clinvar/239588 ^@ NM_003924.3(PHOX2B):c.639C>G (p.Gly213=) http://identifiers.org/clinvar/239085 ^@ NM_001999.3(FBN2):c.460A>G (p.Met154Val) http://identifiers.org/clinvar/240239 ^@ NM_005732.3(RAD50):c.351C>T (p.Val117=) http://identifiers.org/clinvar/238984 ^@ NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) http://identifiers.org/clinvar/239638 ^@ NM_004168.3(SDHA):c.1196C>T (p.Pro399Leu) http://identifiers.org/clinvar/238934 ^@ NM_001277115.1(DNAH11):c.8362C>G (p.His2788Asp) http://identifiers.org/clinvar/262077 ^@ NM_032446.2(MEGF10):c.588G>A (p.Gln196=) http://identifiers.org/clinvar/260038 ^@ NM_006790.2(MYOT):c.634-15T>C http://identifiers.org/clinvar/259187 ^@ NM_003900.4(SQSTM1):c.1044G>A (p.Pro348=) http://identifiers.org/clinvar/261677 ^@ NM_023073.3(C5orf42):c.8212-15G>A http://identifiers.org/clinvar/262177 ^@ NM_033071.3(SYNE1):c.19855-29dupT http://identifiers.org/clinvar/261177 ^@ NM_019105.6(TNXB):c.9434-48G>T http://identifiers.org/clinvar/261127 ^@ NM_019105.6(TNXB):c.1949G>A (p.Arg650His) http://identifiers.org/clinvar/260188 ^@ NM_012120.2(CD2AP):c.1898A>G (p.Lys633Arg) http://identifiers.org/clinvar/259337 ^@ NM_004370.5(COL12A1):c.5225G>A (p.Arg1742His) http://identifiers.org/clinvar/258987 ^@ NM_003235.4(TG):c.1260G>A (p.Gly420=) http://identifiers.org/clinvar/260138 ^@ NM_007171.3(POMT1):c.-6T>G http://identifiers.org/clinvar/259037 ^@ NM_003289.3(TPM2):c.375-25C>T http://identifiers.org/clinvar/262127 ^@ NM_032844.4(MASTL):c.812-28G>A http://identifiers.org/clinvar/261327 ^@ NM_020549.4(CHAT):c.1135G>C (p.Asp379His) http://identifiers.org/clinvar/260238 ^@ NM_012330.3(KAT6B):c.3310_3312dupGAA (p.Glu1104_Asn1105insGlu) http://identifiers.org/clinvar/259287 ^@ NM_004329.2(BMPR1A):c.675+12G>A http://identifiers.org/clinvar/257498 ^@ NM_001122955.3(BSCL2):c.60C>G (p.Asp20Glu) http://identifiers.org/clinvar/259838 ^@ NM_005609.3(PYGM):c.540C>T (p.Ala180=) http://identifiers.org/clinvar/259137 ^@ NM_003737.3(DCHS1):c.1986+17A>T http://identifiers.org/clinvar/258637 ^@ NM_002335.3(LRP5):c.3297C>T (p.Asp1099=) http://identifiers.org/clinvar/259688 ^@ NM_005247.2(FGF3):c.408G>A (p.Thr136=) http://identifiers.org/clinvar/257398 ^@ NM_001082538.2(TCTN1):c.1671C>A (p.Ser557=) http://identifiers.org/clinvar/257548 ^@ NM_001131025.1(PEX5):c.1718+17A>G http://identifiers.org/clinvar/261827 ^@ NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) http://identifiers.org/clinvar/261627 ^@ NM_022489.3(INF2):c.624C>T (p.Pro208=) http://identifiers.org/clinvar/261227 ^@ NM_020366.3(RPGRIP1):c.2215+7G>A http://identifiers.org/clinvar/260288 ^@ NM_013382.5(POMT2):c.1007-32G>A http://identifiers.org/clinvar/261927 ^@ NM_030621.4(DICER1):c.574-19G>T http://identifiers.org/clinvar/334974 ^@ NM_000751.2(CHRND):c.1473G>T (p.Gln491His) http://identifiers.org/clinvar/335024 ^@ NM_005199.4(CHRNG):c.*589_*590dupCC http://identifiers.org/clinvar/335074 ^@ NM_000541.4(SAG):c.1208T>C (p.Val403Ala) http://identifiers.org/clinvar/332983 ^@ NM_201548.4(CERKL):c.*1045G>A http://identifiers.org/clinvar/333033 ^@ NM_002500.4(NEUROD1):c.*370_*371insT http://identifiers.org/clinvar/335124 ^@ NM_004369.3(COL6A3):c.3862G>A (p.Ala1288Thr) http://identifiers.org/clinvar/335224 ^@ NM_004321.7(KIF1A):c.*2542C>T http://identifiers.org/clinvar/333133 ^@ NM_000393.4(COL5A2):c.3633+12A>G http://identifiers.org/clinvar/333183 ^@ NM_000534.4(PMS1):c.-489G>A http://identifiers.org/clinvar/336431 ^@ NM_000251.2(MSH2):c.2463C>T (p.Val821=) http://identifiers.org/clinvar/333233 ^@ NM_005259.2(MSTN):c.*41G>T http://identifiers.org/clinvar/336481 ^@ NM_000145.3(FSHR):c.1576T>C (p.Leu526=) http://identifiers.org/clinvar/335774 ^@ NM_000379.3(XDH):c.2198-7T>A http://identifiers.org/clinvar/333383 ^@ NM_001006657.1(WDR35):c.2295C>T (p.Asp765=) http://identifiers.org/clinvar/335874 ^@ NM_014946.3(SPAST):c.*1995A>G http://identifiers.org/clinvar/337320 ^@ NM_003896.3(ST3GAL5):c.*678C>T http://identifiers.org/clinvar/334274 ^@ NM_173076.2(ABCA12):c.880C>G (p.Leu294Val) http://identifiers.org/clinvar/337370 ^@ NM_022912.2(REEP1):c.*1580T>C http://identifiers.org/clinvar/337470 ^@ NM_017849.3(TMEM127):c.*2086C>T http://identifiers.org/clinvar/334324 ^@ NM_015488.4(PNKD):c.653G>A (p.Arg218Gln) http://identifiers.org/clinvar/334374 ^@ NM_000784.3(CYP27A1):c.1184+9G>T http://identifiers.org/clinvar/337120 ^@ NM_013247.4(HTRA2):c.-359G>A http://identifiers.org/clinvar/334524 ^@ NM_015311.2(OBSL1):c.1255C>T (p.Arg419Cys) http://identifiers.org/clinvar/334824 ^@ NM_000091.4(COL4A3):c.*2308T>C http://identifiers.org/clinvar/337570 ^@ NM_014014.4(SNRNP200):c.-27G>A http://identifiers.org/clinvar/342910 ^@ NM_053025.3(MYLK):c.-24C>T http://identifiers.org/clinvar/343060 ^@ NM_025265.3(TSEN2):c.-201C>T http://identifiers.org/clinvar/335274 ^@ NM_004321.7(KIF1A):c.2089+12C>T http://identifiers.org/clinvar/335324 ^@ NM_152783.4(D2HGDH):c.1523A>G (p.Lys508Arg) http://identifiers.org/clinvar/334924 ^@ NM_152383.4(DIS3L2):c.-102G>A http://identifiers.org/clinvar/335374 ^@ NM_000182.4(HADHA):c.2113G>A (p.Val705Ile) http://identifiers.org/clinvar/343260 ^@ NM_052985.3(IFT122):c.3281G>A (p.Arg1094His) http://identifiers.org/clinvar/343360 ^@ NM_153240.4(NPHP3):c.*784C>T http://identifiers.org/clinvar/335174 ^@ NM_004544.3(NDUFA10):c.*1957G>A http://identifiers.org/clinvar/335724 ^@ NM_004304.4(ALK):c.-292G>A http://identifiers.org/clinvar/343760 ^@ NM_000096.3(CP):c.2286-15delG http://identifiers.org/clinvar/335424 ^@ NM_194248.2(OTOF):c.*650C>A http://identifiers.org/clinvar/343960 ^@ NM_020800.2(IFT80):c.*42G>A http://identifiers.org/clinvar/343210 ^@ NM_014049.4(ACAD9):c.*68C>T http://identifiers.org/clinvar/354426 ^@ NM_004385.4(VCAN):c.5427C>T (p.His1809=) http://identifiers.org/clinvar/350529 ^@ NM_001182.4(ALDH7A1):c.*2549G>C http://identifiers.org/clinvar/350679 ^@ NM_032446.2(MEGF10):c.*559G>A http://identifiers.org/clinvar/350779 ^@ NM_001999.3(FBN2):c.3480C>T (p.Asp1160=) http://identifiers.org/clinvar/350829 ^@ NM_003060.3(SLC22A5):c.*956_*957insTA http://identifiers.org/clinvar/354926 ^@ NM_014028.3(OSTM1):c.*3329A>G http://identifiers.org/clinvar/358055 ^@ NM_004999.3(MYO6):c.*4113dupA http://identifiers.org/clinvar/350929 ^@ NM_017415.2(KLHL3):c.*3341delA http://identifiers.org/clinvar/351229 ^@ NM_002488.4(NDUFA2):c.-53A>G http://identifiers.org/clinvar/351129 ^@ NM_001369.2(DNAH5):c.4338C>G (p.Leu1446=) http://identifiers.org/clinvar/358555 ^@ NM_000111.2(SLC26A3):c.571-9T>C http://identifiers.org/clinvar/358605 ^@ NM_014491.3(FOXP2):c.598-10C>T http://identifiers.org/clinvar/351279 ^@ NM_005219.4(DIAPH1):c.*367C>G http://identifiers.org/clinvar/351329 ^@ NM_001018077.1(NR3C1):c.*2567A>G http://identifiers.org/clinvar/351579 ^@ NM_024577.3(SH3TC2):c.*21482_*21485delAAAC http://identifiers.org/clinvar/351379 ^@ NM_002700.2(POU4F3):c.-44C>A http://identifiers.org/clinvar/351679 ^@ NM_024577.3(SH3TC2):c.*12509T>C http://identifiers.org/clinvar/355816 ^@ NM_033071.3(SYNE1):c.23765+11A>T http://identifiers.org/clinvar/358905 ^@ NM_018718.2(CEP41):c.*3526dupT http://identifiers.org/clinvar/351629 ^@ NM_024577.3(SH3TC2):c.*16900_*16901delCA http://identifiers.org/clinvar/355966 ^@ NM_032122.4(DTNBP1):c.668-14delT http://identifiers.org/clinvar/356066 ^@ NM_198586.2(NHLRC1):c.*406A>G http://identifiers.org/clinvar/359405 ^@ NM_022458.3(LMBR1):c.*728G>A http://identifiers.org/clinvar/359455 ^@ NM_058246.3(DNAJB6):c.692-13G>T http://identifiers.org/clinvar/359755 ^@ NM_032581.3(FAM126A):c.*515A>T http://identifiers.org/clinvar/356466 ^@ NM_003322.5(TULP1):c.1341G>A (p.Leu447=) http://identifiers.org/clinvar/356666 ^@ NM_005943.5(MOCS1):c.421C>G (p.Gln141Glu) http://identifiers.org/clinvar/357016 ^@ NM_152732.4(RSPH9):c.276G>A (p.Met92Ile) http://identifiers.org/clinvar/360644 ^@ NM_000501.3(ELN):c.1096+47_1096+50dupGTGT http://identifiers.org/clinvar/360694 ^@ NM_000941.2(POR):c.169T>C (p.Phe57Leu) http://identifiers.org/clinvar/360744 ^@ NM_001001547.2(CD36):c.-211C>T http://identifiers.org/clinvar/360794 ^@ NM_000443.3(ABCB4):c.2137G>A (p.Val713Met) http://identifiers.org/clinvar/360844 ^@ NM_005751.4(AKAP9):c.9229G>A (p.Ala3077Thr) http://identifiers.org/clinvar/361194 ^@ NM_178857.5(RP1L1):c.*265G>T http://identifiers.org/clinvar/361294 ^@ NM_178857.5(RP1L1):c.4003G>A (p.Gly1335Arg) http://identifiers.org/clinvar/353376 ^@ NM_133433.3(NIPBL):c.2856G>A (p.Ala952=) http://identifiers.org/clinvar/361604 ^@ NM_014112.4(TRPS1):c.*73T>C http://identifiers.org/clinvar/353426 ^@ NM_023073.3(C5orf42):c.8035C>T (p.Arg2679Trp) http://identifiers.org/clinvar/361704 ^@ NM_002546.3(TNFRSF11B):c.-284C>T http://identifiers.org/clinvar/361754 ^@ NM_004519.3(KCNQ3):c.*7371T>G http://identifiers.org/clinvar/353876 ^@ NM_176806.3(MOCS2):c.*216C>T http://identifiers.org/clinvar/306350 ^@ NM_012193.3(FZD4):c.*3933_*3940delTTTGTTTG http://identifiers.org/clinvar/299996 ^@ NM_002900.2(RBP3):c.258C>T (p.Arg86=) http://identifiers.org/clinvar/306450 ^@ NM_005591.3(MRE11):c.*2501A>G http://identifiers.org/clinvar/300046 ^@ NM_000124.3(ERCC6):c.3482G>C (p.Ser1161Thr) http://identifiers.org/clinvar/300146 ^@ NM_000242.2(MBL2):c.*99T>G http://identifiers.org/clinvar/306750 ^@ NM_002465.3(MYBPC1):c.*19+3A>G http://identifiers.org/clinvar/300246 ^@ NM_000417.2(IL2RA):c.*103C>T http://identifiers.org/clinvar/306850 ^@ NM_000618.4(IGF1):c.*4540C>T http://identifiers.org/clinvar/306900 ^@ NM_000618.4(IGF1):c.*722G>T http://identifiers.org/clinvar/308689 ^@ NM_153026.2(PRICKLE1):c.*715G>T http://identifiers.org/clinvar/308839 ^@ NM_001017535.1(VDR):c.*1982C>T http://identifiers.org/clinvar/308889 ^@ NM_001017535.1(VDR):c.-84+15G>C http://identifiers.org/clinvar/302335 ^@ NM_002906.3(RDX):c.*800C>T http://identifiers.org/clinvar/366443 ^@ NM_000459.4(TEK):c.2718C>G (p.Pro906=) http://identifiers.org/clinvar/302485 ^@ NM_003002.3(SDHD):c.*186A>G http://identifiers.org/clinvar/366593 ^@ NM_175073.2(APTX):c.484-12T>G http://identifiers.org/clinvar/366643 ^@ NM_001497.3(B4GALT1):c.*386C>T http://identifiers.org/clinvar/302635 ^@ NM_174934.3(SCN4B):c.*785G>A http://identifiers.org/clinvar/310528 ^@ NM_018979.3(WNK1):c.-234T>C http://identifiers.org/clinvar/302735 ^@ NM_000190.3(HMBS):c.1026G>A (p.Leu342=) http://identifiers.org/clinvar/366743 ^@ NM_004629.1(FANCG):c.-450G>C http://identifiers.org/clinvar/310633 ^@ NM_025114.3(CEP290):c.31A>G (p.Met11Val) http://identifiers.org/clinvar/366393 ^@ NM_000459.4(TEK):c.309A>C (p.Glu103Asp) http://identifiers.org/clinvar/366893 ^@ NM_001042413.1(GLIS3):c.*3338T>A http://identifiers.org/clinvar/366943 ^@ NM_001042413.1(GLIS3):c.*818C>T http://identifiers.org/clinvar/314322 ^@ NM_000428.2(LTBP2):c.-55G>A http://identifiers.org/clinvar/322207 ^@ NM_000382.2(ALDH3A2):c.86C>T (p.Ala29Val) http://identifiers.org/clinvar/322507 ^@ NM_001045.5(SLC6A4):c.*2019C>T http://identifiers.org/clinvar/322557 ^@ NM_000267.3(NF1):c.-237dupC http://identifiers.org/clinvar/322607 ^@ NM_000267.3(NF1):c.*3248G>A http://identifiers.org/clinvar/313222 ^@ NM_020937.3(FANCM):c.4878T>C (p.Asp1626=) http://identifiers.org/clinvar/313272 ^@ NM_018139.2(DNAAF2):c.*191A>G http://identifiers.org/clinvar/322807 ^@ NM_145068.3(TRPV3):c.-220G>A http://identifiers.org/clinvar/341571 ^@ NM_153609.3(TMPRSS6):c.*503C>G http://identifiers.org/clinvar/313422 ^@ NM_172337.2(OTX2):c.97+12C>T http://identifiers.org/clinvar/315361 ^@ NM_144599.4(NIPA1):c.*3393A>T http://identifiers.org/clinvar/313722 ^@ NM_000347.5(SPTB):c.4973+4C>T http://identifiers.org/clinvar/342071 ^@ NM_015166.3(MLC1):c.*2163T>G http://identifiers.org/clinvar/342171 ^@ NM_005198.4(CHKB):c.745T>C (p.Leu249=) http://identifiers.org/clinvar/313922 ^@ NM_015346.3(ZFYVE26):c.769G>A (p.Glu257Lys) http://identifiers.org/clinvar/323596 ^@ NM_002055.4(GFAP):c.*1522T>C http://identifiers.org/clinvar/367772 ^@ NM_002294.2(LAMP2):c.*1314T>C http://identifiers.org/clinvar/323646 ^@ NM_005910.5(MAPT):c.462G>A (p.Pro154=) http://identifiers.org/clinvar/314122 ^@ NM_031427.3(DNAL1):c.*6140T>G http://identifiers.org/clinvar/368122 ^@ NM_000132.3(F8):c.2383A>G (p.Arg795Gly) http://identifiers.org/clinvar/324152 ^@ NM_053013.3(ENO3):c.1235+3A>G http://identifiers.org/clinvar/324253 ^@ NM_018488.3(TBX4):c.759T>A (p.Asp253Glu) http://identifiers.org/clinvar/324505 ^@ NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) http://identifiers.org/clinvar/324755 ^@ NM_031220.3(PITPNM3):c.1019G>A (p.Arg340Gln) http://identifiers.org/clinvar/324805 ^@ NM_002734.4(PRKAR1A):c.*1168A>T http://identifiers.org/clinvar/371916 ^@ NM_006231.3(POLE):c.6379C>T (p.Arg2127Ter) http://identifiers.org/clinvar/371966 ^@ NM_024675.3(PALB2):c.3202-1G>A http://identifiers.org/clinvar/372352 ^@ NM_201253.2(CRB1):c.2506C>A (p.Pro836Thr) http://identifiers.org/clinvar/373072 ^@ NM_014795.3(ZEB2):c.1821_1824delTGAA (p.Asn607Lysfs) http://identifiers.org/clinvar/372403 ^@ NM_000228.2(LAMB3):c.2842delG (p.Val948Cysfs) http://identifiers.org/clinvar/373022 ^@ NM_001006657.1(WDR35):c.584_585delTG (p.Leu195Glnfs) http://identifiers.org/clinvar/372921 ^@ NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter) http://identifiers.org/clinvar/372972 ^@ NM_001165963.1(SCN1A):c.2606T>C (p.Leu869Ser) http://identifiers.org/clinvar/373422 ^@ NM_000388.3(CASR):c.1619C>T (p.Ser540Phe) http://identifiers.org/clinvar/372817 ^@ NM_014846.3(WASHC5):c.1847C>T (p.Ser616Phe) http://identifiers.org/clinvar/373672 ^@ NM_006766.4(KAT6A):c.4210dupG (p.Glu1404Glyfs) http://identifiers.org/clinvar/372302 ^@ NM_020732.3(ARID1B):c.2776C>T (p.Gln926Ter) http://identifiers.org/clinvar/373622 ^@ NM_000238.3(KCNH2):c.3007G>A (p.Asp1003Asn) http://identifiers.org/clinvar/372612 ^@ NM_025114.3(CEP290):c.268A>T (p.Lys90Ter) http://identifiers.org/clinvar/372716 ^@ NM_007103.3(NDUFV1):c.1162+4A>C http://identifiers.org/clinvar/372562 ^@ NM_005249.4(FOXG1):c.511G>T (p.Glu171Ter) http://identifiers.org/clinvar/373222 ^@ NM_002206.2(ITGA7):c.2909C>T (p.Ala970Val) http://identifiers.org/clinvar/373472 ^@ NM_020937.3(FANCM):c.1636G>A (p.Gly546Ser) http://identifiers.org/clinvar/372664 ^@ NM_002225.3(IVD):c.10A>C (p.Met4Leu) http://identifiers.org/clinvar/373122 ^@ NM_021098.2(CACNA1H):c.4754G>T (p.Arg1585Leu) http://identifiers.org/clinvar/373372 ^@ NM_002470.3(MYH3):c.1625C>G (p.Pro542Arg) http://identifiers.org/clinvar/372510 ^@ NM_005585.4(SMAD6):c.1069T>A (p.Phe357Ile) http://identifiers.org/clinvar/372766 ^@ NM_000137.2(FAH):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/373572 ^@ NM_001130823.2(DNMT1):c.56C>T (p.Ser19Leu) http://identifiers.org/clinvar/373172 ^@ NM_003573.2(LTBP4):c.4201G>A (p.Gly1401Arg) http://identifiers.org/clinvar/372869 ^@ NM_133644.3(GTPBP3):c.155G>A (p.Arg52Gln) http://identifiers.org/clinvar/372457 ^@ NM_000444.5(PHEX):c.1180C>T (p.Gln394Ter) http://identifiers.org/clinvar/373522 ^@ NM_004606.4(TAF1):c.5531A>G (p.Tyr1844Cys) http://identifiers.org/clinvar/374456 ^@ NM_014946.3(SPAST):c.1501A>C (p.Ile501Leu) http://identifiers.org/clinvar/374506 ^@ NM_015120.4(ALMS1):c.1735delA (p.Arg579Glyfs) http://identifiers.org/clinvar/374556 ^@ NM_001458.4(FLNC):c.1082G>A (p.Arg361His) http://identifiers.org/clinvar/374606 ^@ NM_000051.3(ATM):c.6447T>C (p.Tyr2149=) http://identifiers.org/clinvar/374656 ^@ NM_006514.3(SCN10A):c.3704C>T (p.Ala1235Val) http://identifiers.org/clinvar/374706 ^@ NM_005943.5(MOCS1):c.55G>A (p.Gly19Ser) http://identifiers.org/clinvar/374756 ^@ NM_001267550.2(TTN):c.43185C>A (p.Ala14395=) http://identifiers.org/clinvar/374816 ^@ NM_000141.4(FGFR2):c.1012G>C (p.Gly338Arg) http://identifiers.org/clinvar/374866 ^@ NM_033068.2(ACPT):c.397G>A (p.Glu133Lys) http://identifiers.org/clinvar/374929 ^@ NM_000709.3(BCKDHA):c.399delCinsAA (p.Asn134Lysfs) http://identifiers.org/clinvar/374984 ^@ NM_139312.2(YME1L1):c.616C>T (p.Arg206Trp) http://identifiers.org/clinvar/375264 ^@ NM_001015877.1(PHF6):c.113delA (p.Lys38Argfs) http://identifiers.org/clinvar/375316 ^@ NM_014855.2(AP5Z1):c.1732C>T (p.Gln578Ter) http://identifiers.org/clinvar/375369 ^@ NM_052867.2(NALCN):c.1639A>G (p.Met547Val) http://identifiers.org/clinvar/375424 ^@ NM_001453.2(FOXC1):c.316C>T (p.Gln106Ter) http://identifiers.org/clinvar/375490 ^@ NM_001003694.1(BRPF1):c.2982C>G (p.Tyr994Ter) http://identifiers.org/clinvar/375543 ^@ NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) http://identifiers.org/clinvar/375608 ^@ NM_018713.2(SLC30A10):c.496_553del58 (p.Ala166Glnfs) http://identifiers.org/clinvar/375661 ^@ NM_000767.4(CYP2B6):c.823-197T>C http://identifiers.org/clinvar/375753 ^@ NG_000006.1:g.32867_38062del5196 http://identifiers.org/clinvar/375805 ^@ NM_000527.4(LDLR):c.940+2T>G http://identifiers.org/clinvar/375855 ^@ NM_001040108.1(MLH3):c.713A>G (p.Tyr238Cys) http://identifiers.org/clinvar/375908 ^@ NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) http://identifiers.org/clinvar/378935 ^@ NM_005633.3(SOS1):c.-21C>G http://identifiers.org/clinvar/390301 ^@ NM_015120.4(ALMS1):c.-45C>G http://identifiers.org/clinvar/384773 ^@ NM_022912.2(REEP1):c.156G>A (p.Glu52=) http://identifiers.org/clinvar/390151 ^@ NM_000249.3(MLH1):c.1986T>C (p.Thr662=) http://identifiers.org/clinvar/381578 ^@ NM_003907.2(EIF2B5):c.380T>C (p.Leu127Pro) http://identifiers.org/clinvar/390701 ^@ NM_133259.3(LRPPRC):c.1677+11C>T http://identifiers.org/clinvar/387062 ^@ NM_015560.2(OPA1):c.679-4G>A http://identifiers.org/clinvar/391940 ^@ NM_000179.2(MSH6):c.2064C>G (p.Val688=) http://identifiers.org/clinvar/390451 ^@ NM_001148.4(ANK2):c.7707A>G (p.Ala2569=) http://identifiers.org/clinvar/381278 ^@ NM_024582.4(FAT4):c.13599G>A (p.Lys4533=) http://identifiers.org/clinvar/381879 ^@ NM_003060.3(SLC22A5):c.934A>G (p.Ile312Val) http://identifiers.org/clinvar/390001 ^@ NM_181705.3(LYRM7):c.51C>T (p.Thr17=) http://identifiers.org/clinvar/390551 ^@ NM_000038.5(APC):c.8277T>C (p.Arg2759=) http://identifiers.org/clinvar/392340 ^@ NM_006073.3(TRDN):c.1035T>C (p.Ile345=) http://identifiers.org/clinvar/387962 ^@ NM_198056.2(SCN5A):c.4749C>G (p.Arg1583=) http://identifiers.org/clinvar/387712 ^@ NM_002454.2(MTRR):c.1544C>T (p.Ala515Val) http://identifiers.org/clinvar/391540 ^@ NM_013352.3(DSE):c.495G>T (p.Leu165Phe) http://identifiers.org/clinvar/389401 ^@ NM_018368.3(LMBRD1):c.1510-17C>T http://identifiers.org/clinvar/379085 ^@ NM_014165.3(NDUFAF4):c.-25C>T http://identifiers.org/clinvar/378835 ^@ NM_001069.2(TUBB2A):c.564T>G (p.Ser188=) http://identifiers.org/clinvar/387412 ^@ NM_033071.3(SYNE1):c.10578A>T (p.Ser3526=) http://identifiers.org/clinvar/382920 ^@ NM_024582.4(FAT4):c.12065G>A (p.Arg4022Gln) http://identifiers.org/clinvar/381829 ^@ NM_020732.3(ARID1B):c.2960C>G (p.Ser987Cys) http://identifiers.org/clinvar/385123 ^@ NM_000238.3(KCNH2):c.3108C>T (p.Gly1036=) http://identifiers.org/clinvar/384422 ^@ NM_004415.3(DSP):c.3981C>A (p.Ile1327=) http://identifiers.org/clinvar/392690 ^@ NM_000238.3(KCNH2):c.1851C>A (p.Phe617Leu) http://identifiers.org/clinvar/385223 ^@ NM_018941.3(CLN8):c.186C>T (p.Val62=) http://identifiers.org/clinvar/379235 ^@ NM_000238.3(KCNH2):c.1128+1810C>T http://identifiers.org/clinvar/391840 ^@ NM_000089.3(COL1A2):c.1971+17A>G http://identifiers.org/clinvar/381778 ^@ NM_001130438.2(SPTAN1):c.6195C>T (p.Ser2065=) http://identifiers.org/clinvar/384372 ^@ NM_023073.3(C5orf42):c.2613C>G (p.Arg871=) http://identifiers.org/clinvar/380726 ^@ NM_000535.6(PMS2):c.-29G>A http://identifiers.org/clinvar/381378 ^@ NM_000742.3(CHRNA2):c.1158C>T (p.Pro386=) http://identifiers.org/clinvar/387812 ^@ NM_032237.4(POMK):c.-222G>T http://identifiers.org/clinvar/389801 ^@ NM_006904.6(PRKDC):c.42G>A (p.Arg14=) http://identifiers.org/clinvar/387562 ^@ NM_000445.4(PLEC):c.800-20T>G http://identifiers.org/clinvar/380777 ^@ NM_004408.3(DNM1):c.1008C>T (p.Phe336=) http://identifiers.org/clinvar/384623 ^@ NM_018341.2(ERMARD):c.1060-12A>G http://identifiers.org/clinvar/392290 ^@ NM_002485.4(NBN):c.2235-19C>T http://identifiers.org/clinvar/389851 ^@ NM_000368.4(TSC1):c.1333+9T>A http://identifiers.org/clinvar/133015 ^@ NM_000540.2(RYR1):c.11590+13C>T http://identifiers.org/clinvar/134103 ^@ NM_000400.3(ERCC2):c.2069G>A (p.Arg690Gln) http://identifiers.org/clinvar/134153 ^@ NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) http://identifiers.org/clinvar/134203 ^@ NM_000401.3(EXT2):c.1811A>G (p.His604Arg) http://identifiers.org/clinvar/134253 ^@ NM_000135.2(FANCA):c.2216C>T (p.Pro739Leu) http://identifiers.org/clinvar/134304 ^@ NM_000136.2(FANCC):c.416G>A (p.Gly139Glu) http://identifiers.org/clinvar/134355 ^@ NM_022725.3(FANCF):c.728G>A (p.Gly243Glu) http://identifiers.org/clinvar/134405 ^@ NM_000142.4(FGFR3):c.1559C>T (p.Ser520Leu) http://identifiers.org/clinvar/134455 ^@ NM_003902.4(FUBP1):c.56G>A (p.Gly19Asp) http://identifiers.org/clinvar/134505 ^@ NM_000545.6(HNF1A):c.225C>T (p.Asp75=) http://identifiers.org/clinvar/134555 ^@ NM_004972.3(JAK2):c.3188G>A (p.Arg1063His) http://identifiers.org/clinvar/134605 ^@ NM_002253.2(KDR):c.1615G>A (p.Gly539Arg) http://identifiers.org/clinvar/134656 ^@ NM_000249.3(MLH1):c.52C>T (p.Arg18Cys) http://identifiers.org/clinvar/134708 ^@ NM_003482.3(KMT2D):c.8695G>A (p.Gly2899Ser) http://identifiers.org/clinvar/134758 ^@ NM_170606.2(KMT2C):c.5792C>T (p.Ser1931Leu) http://identifiers.org/clinvar/134808 ^@ NM_170606.2(KMT2C):c.11942A>C (p.Asn3981Thr) http://identifiers.org/clinvar/134861 ^@ NM_001128425.1(MUTYH):c.1000C>A (p.Pro334Thr) http://identifiers.org/clinvar/134912 ^@ NM_017617.4(NOTCH1):c.2108G>A (p.Arg703His) http://identifiers.org/clinvar/134962 ^@ NM_024408.3(NOTCH2):c.2573C>G (p.Thr858Ser) http://identifiers.org/clinvar/135012 ^@ NM_006206.4(PDGFRA):c.1417A>G (p.Ile473Val) http://identifiers.org/clinvar/135062 ^@ NM_000535.6(PMS2):c.1360_1361delCTinsTC (p.Leu454Ser) http://identifiers.org/clinvar/135113 ^@ NM_002834.4(PTPN11):c.148G>A (p.Ala50Thr) http://identifiers.org/clinvar/135165 ^@ NM_004260.3(RECQL4):c.755C>T (p.Pro252Leu) http://identifiers.org/clinvar/135195 ^@ NM_003001.3(SDHC):c.*20T>G http://identifiers.org/clinvar/135245 ^@ NM_005359.5(SMAD4):c.947A>G (p.Asn316Ser) http://identifiers.org/clinvar/135296 ^@ NM_001127208.2(TET2):c.5103G>A (p.Met1701Ile) http://identifiers.org/clinvar/135346 ^@ NM_006290.3(TNFAIP3):c.2036T>C (p.Ile679Thr) http://identifiers.org/clinvar/135397 ^@ NM_000369.2(TSHR):c.1033G>A (p.Asp345Asn) http://identifiers.org/clinvar/135447 ^@ NM_000553.4(WRN):c.667A>G (p.Ile223Val) http://identifiers.org/clinvar/135497 ^@ NM_005089.3(ZRSR2):c.748G>A (p.Val250Met) http://identifiers.org/clinvar/135547 ^@ NM_000141.4(FGFR2):c.939+11T>C http://identifiers.org/clinvar/136044 ^@ NM_002485.4(NBN):c.279G>A (p.Ser93=) http://identifiers.org/clinvar/185447 ^@ NM_002878.3(RAD51D):c.185_200del16 (p.Ser62Leufs) http://identifiers.org/clinvar/187738 ^@ NM_007294.3(BRCA1):c.5278-3C>T http://identifiers.org/clinvar/184697 ^@ NM_007294.3(BRCA1):c.2862A>G (p.Leu954=) http://identifiers.org/clinvar/187588 ^@ NM_058216.2(RAD51C):c.1004G>A (p.Cys335Tyr) http://identifiers.org/clinvar/184847 ^@ NM_032043.2(BRIP1):c.667C>T (p.Gln223Ter) http://identifiers.org/clinvar/184647 ^@ NM_000546.5(TP53):c.661G>A (p.Glu221Lys) http://identifiers.org/clinvar/184947 ^@ NM_000455.4(STK11):c.990C>G (p.Asp330Glu) http://identifiers.org/clinvar/185097 ^@ NM_007194.3(CHEK2):c.902delT (p.Leu301Trpfs) http://identifiers.org/clinvar/187792 ^@ NM_005215.3(DCC):c.2105A>G (p.Asn702Ser) http://identifiers.org/clinvar/187871 ^@ NM_005957.4(MTHFR):c.264_302dup39 (p.Pro101_Gly102insLeuTyrIleAspValThrTrpHisProAlaGlyAspPro) http://identifiers.org/clinvar/187921 ^@ NM_004409.4(DMPK):c.*224_*226[134] http://identifiers.org/clinvar/187971 ^@ NM_004409.4(DMPK):c.*224_*226[375] http://identifiers.org/clinvar/188021 ^@ NM_004409.4(DMPK):c.*224_*226[688] http://identifiers.org/clinvar/188122 ^@ NM_001128425.1(MUTYH):c.859G>A (p.Ala287Thr) http://identifiers.org/clinvar/188071 ^@ NM_000179.2(MSH6):c.2144_2145delAC (p.Thr716Serfs) http://identifiers.org/clinvar/188224 ^@ NM_000179.2(MSH6):c.3994T>A (p.Leu1332Ile) http://identifiers.org/clinvar/188173 ^@ NM_000038.5(APC):c.7193C>T (p.Ser2398Phe) http://identifiers.org/clinvar/188278 ^@ NM_000264.3(PTCH1):c.3826C>G (p.His1276Asp) http://identifiers.org/clinvar/188384 ^@ NM_000135.2(FANCA):c.3403_3405delTTC (p.Phe1135del) http://identifiers.org/clinvar/188330 ^@ NM_007294.3(BRCA1):c.2231C>A (p.Ala744Asp) http://identifiers.org/clinvar/188541 ^@ NM_000256.3(MYBPC3):c.1091-24C>T http://identifiers.org/clinvar/188491 ^@ NM_001110219.2(GJB6):c.498G>A (p.Val166=) http://identifiers.org/clinvar/188441 ^@ NM_000059.3(BRCA2):c.9472A>G (p.Thr3158Ala) http://identifiers.org/clinvar/229258 ^@ NM_000441.1(SLC26A4):c.441G>A (p.Met147Ile) http://identifiers.org/clinvar/228558 ^@ NM_004403.2(DFNA5):c.712C>T (p.Arg238Ter) http://identifiers.org/clinvar/227427 ^@ NM_000601.5(HGF):c.471A>G (p.Pro157=) http://identifiers.org/clinvar/227557 ^@ NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys) http://identifiers.org/clinvar/228008 ^@ NM_004817.3(TJP2):c.3407+7G>A http://identifiers.org/clinvar/228408 ^@ NM_138691.2(TMC1):c.1939T>C (p.Ser647Pro) http://identifiers.org/clinvar/228458 ^@ NM_004281.3(BAG3):c.695A>T (p.His232Leu) http://identifiers.org/clinvar/228508 ^@ NM_022124.5(CDH23):c.9413G>A (p.Arg3138Gln) http://identifiers.org/clinvar/229108 ^@ NM_001277269.1(OTOG):c.8381C>T (p.Thr2794Met) http://identifiers.org/clinvar/229008 ^@ NM_000260.3(MYO7A):c.5264C>T (p.Ala1755Val) http://identifiers.org/clinvar/228908 ^@ NM_000257.3(MYH7):c.3591_3592delCGinsAAGAAGC (p.Asp1198Argfs) http://identifiers.org/clinvar/227277 ^@ NM_001888.4(CRYM):c.279G>A (p.Gln93=) http://identifiers.org/clinvar/228758 ^@ NM_001130089.1(KARS):c.358G>C (p.Glu120Gln) http://identifiers.org/clinvar/228958 ^@ NM_016239.3(MYO15A):c.5693G>A (p.Arg1898Gln) http://identifiers.org/clinvar/227527 ^@ NM_144612.6(LOXHD1):c.4824C>G (p.Val1608=) http://identifiers.org/clinvar/228808 ^@ NM_144612.6(LOXHD1):c.1912G>A (p.Val638Met) http://identifiers.org/clinvar/228358 ^@ NM_000527.4(LDLR):c.313+1G>C http://identifiers.org/clinvar/227377 ^@ NM_133261.2(GIPC3):c.132G>C (p.Ala44=) http://identifiers.org/clinvar/227607 ^@ NM_002473.5(MYH9):c.3255C>T (p.Leu1085=) http://identifiers.org/clinvar/228658 ^@ NM_001399.4(EDA):c.527-6T>G http://identifiers.org/clinvar/228258 ^@ NM_001399.4(EDA):c.911A>C (p.Tyr304Ser) http://identifiers.org/clinvar/227477 ^@ NM_002290.4(LAMA4):c.343G>A (p.Asp115Asn) http://identifiers.org/clinvar/234916 ^@ NM_000179.2(MSH6):c.419G>T (p.Arg140Met) http://identifiers.org/clinvar/234866 ^@ NM_000314.6(PTEN):c.-763G>A http://identifiers.org/clinvar/234815 ^@ NM_000314.6(PTEN):c.869T>C (p.Val290Ala) http://identifiers.org/clinvar/230749 ^@ NM_001128425.1(MUTYH):c.103G>A (p.Gly35Arg) http://identifiers.org/clinvar/233892 ^@ NM_001128425.1(MUTYH):c.37-5T>G http://identifiers.org/clinvar/233139 ^@ NM_000179.2(MSH6):c.106G>T (p.Ala36Ser) http://identifiers.org/clinvar/233089 ^@ NM_000179.2(MSH6):c.2873A>G (p.Gln958Arg) http://identifiers.org/clinvar/233992 ^@ NM_000179.2(MSH6):c.2974G>A (p.Glu992Lys) http://identifiers.org/clinvar/231149 ^@ NM_000249.3(MLH1):c.1732-4C>G http://identifiers.org/clinvar/231199 ^@ NM_000249.3(MLH1):c.1824T>G (p.Ala608=) http://identifiers.org/clinvar/230099 ^@ NM_000038.5(APC):c.1743+5C>T http://identifiers.org/clinvar/230499 ^@ NM_000038.5(APC):c.4043G>C (p.Arg1348Thr) http://identifiers.org/clinvar/263874 ^@ NM_002474.2(MYH11):c.4135A>C (p.Lys1379Gln) http://identifiers.org/clinvar/264024 ^@ NM_002474.2(MYH11):c.5360G>A (p.Arg1787Gln) http://identifiers.org/clinvar/263824 ^@ NM_030777.3(SLC2A10):c.1274T>C (p.Phe425Ser) http://identifiers.org/clinvar/264224 ^@ NM_000071.2(CBS):c.615G>C (p.Gly205=) http://identifiers.org/clinvar/263924 ^@ NM_000071.2(CBS):c.469G>A (p.Ala157Thr) http://identifiers.org/clinvar/265510 ^@ NM_000465.3(BARD1):c.1935_1954del20 (p.Cys645Terfs) http://identifiers.org/clinvar/265561 ^@ NM_000038.5(APC):c.136-2A>G http://identifiers.org/clinvar/265360 ^@ NM_000521.3(HEXB):c.298delC (p.Arg100Aspfs) http://identifiers.org/clinvar/265661 ^@ NM_000535.6(PMS2):c.2446-2A>G http://identifiers.org/clinvar/265611 ^@ NM_000051.3(ATM):c.601C>T (p.Gln201Ter) http://identifiers.org/clinvar/265410 ^@ NM_004006.2(DMD):c.9471_9474delTTAT (p.Ile3157Metfs) http://identifiers.org/clinvar/265460 ^@ NM_000044.4(AR):c.2257C>T (p.Arg753Ter) http://identifiers.org/clinvar/265310 ^@ NM_001399.4(EDA):c.707-1G>A http://identifiers.org/clinvar/265743 ^@ NM_000902.3(MME):c.71G>A (p.Trp24Ter) http://identifiers.org/clinvar/265840 ^@ NM_012343.3(NNT):c.1163A>C (p.Tyr388Ser) http://identifiers.org/clinvar/265950 ^@ NM_174936.3(PCSK9):c.*75C>T http://identifiers.org/clinvar/265900 ^@ NM_000527.4(LDLR):c.818-3C>G http://identifiers.org/clinvar/266005 ^@ NM_138694.3(PKHD1):c.1472A>C (p.His491Pro) http://identifiers.org/clinvar/266082 ^@ NM_003157.5(NEK4):c.2017dupA (p.Ile673Asnfs) http://identifiers.org/clinvar/266632 ^@ NM_000059.3(BRCA2):c.1376T>G (p.Leu459Ter) http://identifiers.org/clinvar/266682 ^@ NM_000059.3(BRCA2):c.2197delG (p.Val733Serfs) http://identifiers.org/clinvar/266532 ^@ NM_007294.3(BRCA1):c.5208_5247del40insTC (p.Arg1737Glnfs) http://identifiers.org/clinvar/266482 ^@ NM_007294.3(BRCA1):c.4569_4570insCC (p.Ser1524Profs) http://identifiers.org/clinvar/266432 ^@ NM_007294.3(BRCA1):c.4039dupA (p.Arg1347Lysfs) http://identifiers.org/clinvar/266382 ^@ NM_007294.3(BRCA1):c.3541_3542delGT (p.Val1181Profs) http://identifiers.org/clinvar/266332 ^@ NM_007294.3(BRCA1):c.3075_3076insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA (p.Ile1026Glyfs) http://identifiers.org/clinvar/266282 ^@ NM_007294.3(BRCA1):c.2577_2578insTT (p.Thr860Leufs) http://identifiers.org/clinvar/266232 ^@ NM_007294.3(BRCA1):c.2193delA (p.Glu732Lysfs) http://identifiers.org/clinvar/266582 ^@ NM_007294.3(BRCA1):c.815_816insTCCATGTGGA (p.Glu272Aspfs) http://identifiers.org/clinvar/266182 ^@ NM_007294.3(BRCA1):c.171dupG (p.Pro58Alafs) http://identifiers.org/clinvar/266132 ^@ NM_007294.3(BRCA1):c.102delT (p.Val35Serfs) http://identifiers.org/clinvar/267628 ^@ NM_000059.3(BRCA2):c.200_1910-877dup http://identifiers.org/clinvar/267678 ^@ NM_000059.3(BRCA2):c.7435+1G>C http://identifiers.org/clinvar/267728 ^@ NM_007294.3(BRCA1):c.213-1G>T http://identifiers.org/clinvar/267807 ^@ 46;XY;t(7;9)(q21;p23)dn http://identifiers.org/clinvar/268124 ^@ NM_018263.5(ASXL2):c.1225_1228delCCAA (p.Pro409Asnfs) http://identifiers.org/clinvar/268192 ^@ NC_000005.9:g.(?_33947411)_(34736875_?)dup http://identifiers.org/clinvar/279604 ^@ NM_030813.5(CLPB):c.748C>T (p.Arg250Ter) http://identifiers.org/clinvar/290911 ^@ NM_080680.2(COL11A2):c.2081_2085delGGAAGinsA (p.Gly694Glufs) http://identifiers.org/clinvar/290961 ^@ NM_001083614.1(EARS2):c.485G>A (p.Arg162Gln) http://identifiers.org/clinvar/291011 ^@ NM_020732.3(ARID1B):c.4014-1G>A http://identifiers.org/clinvar/291061 ^@ NM_000426.3(LAMA2):c.2318G>A (p.Cys773Tyr) http://identifiers.org/clinvar/291111 ^@ NM_012470.3(TNPO3):c.437T>A (p.Ile146Asn) http://identifiers.org/clinvar/291162 ^@ NM_003482.3(KMT2D):c.9474G>C (p.Gln3158His) http://identifiers.org/clinvar/291212 ^@ NM_000152.4(GAA):c.1075+9T>C http://identifiers.org/clinvar/291262 ^@ NM_000214.2(JAG1):c.2113+5G>A http://identifiers.org/clinvar/291377 ^@ NM_001918.3(DBT):c.*8983dupG http://identifiers.org/clinvar/291427 ^@ NM_001918.3(DBT):c.*3135G>A http://identifiers.org/clinvar/291477 ^@ NM_001854.3(COL11A1):c.*1183A>G http://identifiers.org/clinvar/291527 ^@ NM_001854.3(COL11A1):c.1949C>G (p.Pro650Arg) http://identifiers.org/clinvar/291577 ^@ NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) http://identifiers.org/clinvar/291879 ^@ NM_013319.2(UBIAD1):c.*552G>A http://identifiers.org/clinvar/291929 ^@ NM_000036.2(AMPD1):c.1669T>A (p.Ser557Thr) http://identifiers.org/clinvar/291979 ^@ NM_002524.4(NRAS):c.-179G>C http://identifiers.org/clinvar/292379 ^@ NM_014874.3(MFN2):c.*36G>A http://identifiers.org/clinvar/292079 ^@ NM_138959.2(VANGL1):c.*4840T>C http://identifiers.org/clinvar/292029 ^@ NM_138959.2(VANGL1):c.*758G>A http://identifiers.org/clinvar/292529 ^@ NM_019032.5(ADAMTSL4):c.1131G>A (p.Ala377=) http://identifiers.org/clinvar/292679 ^@ NM_152263.3(TPM3):c.*1152C>T http://identifiers.org/clinvar/292129 ^@ NM_001232.3(CASQ2):c.926A>G (p.Asp309Gly) http://identifiers.org/clinvar/292479 ^@ NM_005850.4(SF3B4):c.600G>A (p.Pro200=) http://identifiers.org/clinvar/292979 ^@ NM_003126.2(SPTA1):c.4919C>G (p.Ala1640Gly) http://identifiers.org/clinvar/292229 ^@ NM_005957.4(MTHFR):c.*21C>T http://identifiers.org/clinvar/292279 ^@ NM_000302.3(PLOD1):c.184G>A (p.Glu62Lys) http://identifiers.org/clinvar/292879 ^@ NM_001012331.1(NTRK1):c.585G>A (p.Thr195=) http://identifiers.org/clinvar/292329 ^@ NM_005518.3(HMGCS2):c.1420+13T>C http://identifiers.org/clinvar/292429 ^@ NM_213653.3(HFE2):c.828C>A (p.Ile276=) http://identifiers.org/clinvar/292929 ^@ NM_003126.2(SPTA1):c.*121_*132dupTGTGTGTGTGTG http://identifiers.org/clinvar/292579 ^@ NM_019032.5(ADAMTSL4):c.*674C>T http://identifiers.org/clinvar/292629 ^@ NM_152263.3(TPM3):c.*5583C>T http://identifiers.org/clinvar/293479 ^@ NM_005149.2(TBX19):c.1053-11dupT http://identifiers.org/clinvar/292729 ^@ NM_001111.4(ADAR):c.*1016C>T http://identifiers.org/clinvar/292829 ^@ NM_005572.3(LMNA):c.-128T>C http://identifiers.org/clinvar/292779 ^@ NM_001111.4(ADAR):c.1300C>T (p.Pro434Ser) http://identifiers.org/clinvar/293029 ^@ NM_003126.2(SPTA1):c.1817A>G (p.Asp606Gly) http://identifiers.org/clinvar/293429 ^@ NM_004431.4(EPHA2):c.1533G>A (p.Thr511=) http://identifiers.org/clinvar/294518 ^@ NM_000186.3(CFH):c.3134-7T>C http://identifiers.org/clinvar/294568 ^@ NM_001994.2(F13B):c.1961C>T (p.Ser654Phe) http://identifiers.org/clinvar/294818 ^@ NM_001005337.2(PKP1):c.1116G>C (p.Leu372=) http://identifiers.org/clinvar/295018 ^@ NM_032409.2(PINK1):c.*415C>G http://identifiers.org/clinvar/335824 ^@ NM_014946.3(SPAST):c.-168G>A http://identifiers.org/clinvar/344160 ^@ NM_000340.1(SLC2A2):c.1402C>G (p.Leu468Val) http://identifiers.org/clinvar/344210 ^@ NM_031955.5(SPATA16):c.1117G>A (p.Asp373Asn) http://identifiers.org/clinvar/343460 ^@ NM_000532.4(PCCB):c.185G>C (p.Gly62Ala) http://identifiers.org/clinvar/343510 ^@ NM_024334.2(TMEM43):c.*93C>T http://identifiers.org/clinvar/343560 ^@ NM_004628.4(XPC):c.*96C>G http://identifiers.org/clinvar/344010 ^@ NM_001041.3(SI):c.4569G>A (p.Met1523Ile) http://identifiers.org/clinvar/344060 ^@ NM_001041.3(SI):c.1106A>G (p.Lys369Arg) http://identifiers.org/clinvar/337220 ^@ NM_000821.6(GGCX):c.*2285T>A http://identifiers.org/clinvar/337270 ^@ NM_000821.6(GGCX):c.789C>T (p.Asp263=) http://identifiers.org/clinvar/345799 ^@ NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) http://identifiers.org/clinvar/337170 ^@ NM_003849.3(SUCLG1):c.-186G>A http://identifiers.org/clinvar/337420 ^@ NM_004836.6(EIF2AK3):c.68T>G (p.Leu23Arg) http://identifiers.org/clinvar/345949 ^@ NM_000387.5(SLC25A20):c.-80G>C http://identifiers.org/clinvar/345999 ^@ NM_002292.3(LAMB2):c.2435G>A (p.Arg812His) http://identifiers.org/clinvar/337520 ^@ NM_014014.4(SNRNP200):c.*209T>C http://identifiers.org/clinvar/346099 ^@ NM_153281.1(HYAL1):c.-320_-319delCT http://identifiers.org/clinvar/346149 ^@ NM_052859.3(RFT1):c.*2646T>C http://identifiers.org/clinvar/337670 ^@ NM_001298.2(CNGA3):c.2050G>A (p.Gly684Arg) http://identifiers.org/clinvar/346449 ^@ NM_198859.3(PRICKLE2):c.*1868G>C http://identifiers.org/clinvar/346499 ^@ NM_000248.3(MITF):c.959T>C (p.Val320Ala) http://identifiers.org/clinvar/337620 ^@ NM_001079.3(ZAP70):c.-186C>A http://identifiers.org/clinvar/346649 ^@ NM_032682.5(FOXP1):c.1129A>G (p.Lys377Glu) http://identifiers.org/clinvar/346699 ^@ NM_002942.4(ROBO2):c.2394C>T (p.Ser798=) http://identifiers.org/clinvar/346849 ^@ NM_033337.2(CAV3):c.259C>T (p.Leu87Phe) http://identifiers.org/clinvar/346899 ^@ NM_000313.3(PROS1):c.-135C>T http://identifiers.org/clinvar/345749 ^@ NM_002222.5(ITPR1):c.5277C>T (p.Asn1759=) http://identifiers.org/clinvar/342960 ^@ NM_000373.3(UMPS):c.*1349G>A http://identifiers.org/clinvar/343110 ^@ NM_032638.4(GATA2):c.*1543T>C http://identifiers.org/clinvar/343010 ^@ NM_000373.3(UMPS):c.*3537G>A http://identifiers.org/clinvar/347738 ^@ NM_000901.4(NR3C2):c.103G>C (p.Glu35Gln) http://identifiers.org/clinvar/346399 ^@ NM_000925.3(PDHB):c.*296C>G http://identifiers.org/clinvar/343160 ^@ NM_004637.5(RAB7A):c.552C>T (p.Asn184=) http://identifiers.org/clinvar/343410 ^@ NM_003571.3(BFSP2):c.701T>C (p.Leu234Pro) http://identifiers.org/clinvar/343310 ^@ NM_000539.3(RHO):c.*1455T>C http://identifiers.org/clinvar/343610 ^@ NM_001184.3(ATR):c.3497A>C (p.His1166Pro) http://identifiers.org/clinvar/343710 ^@ NM_032383.4(HPS3):c.2124C>T (p.Gly708=) http://identifiers.org/clinvar/343910 ^@ NM_000060.4(BTD):c.1172C>T (p.Pro391Leu) http://identifiers.org/clinvar/343660 ^@ NM_000935.2(PLOD2):c.-455C>T http://identifiers.org/clinvar/353926 ^@ NM_001104631.1(PDE4D):c.*4001C>G http://identifiers.org/clinvar/354026 ^@ NM_174889.4(NDUFAF2):c.-110A>C http://identifiers.org/clinvar/354076 ^@ NM_017755.5(NSUN2):c.-342C>T http://identifiers.org/clinvar/353776 ^@ NM_002203.3(ITGA2):c.3021T>G (p.Thr1007=) http://identifiers.org/clinvar/353826 ^@ NM_002203.3(ITGA2):c.*2529_*2532delTAGT http://identifiers.org/clinvar/354176 ^@ NM_003719.3(PDE8B):c.*28C>G http://identifiers.org/clinvar/354476 ^@ NM_004385.4(VCAN):c.*730A>G http://identifiers.org/clinvar/358705 ^@ NM_001127500.2(MET):c.*655C>T http://identifiers.org/clinvar/354526 ^@ NM_002890.2(RASA1):c.2608T>C (p.Leu870=) http://identifiers.org/clinvar/354276 ^@ NM_000046.3(ARSB):c.*1989C>T http://identifiers.org/clinvar/354326 ^@ NM_000046.3(ARSB):c.-408_-405delAACT http://identifiers.org/clinvar/354576 ^@ NM_002397.4(MEF2C):c.*2267delA http://identifiers.org/clinvar/359105 ^@ NM_000083.2(CLCN1):c.756G>A (p.Val252=) http://identifiers.org/clinvar/354776 ^@ NM_001242957.2(MAK):c.*728C>T http://identifiers.org/clinvar/359205 ^@ NM_014141.5(CNTNAP2):c.*634A>G http://identifiers.org/clinvar/354826 ^@ NM_007214.4(SEC63):c.*3393C>T http://identifiers.org/clinvar/359255 ^@ NM_014141.5(CNTNAP2):c.*3796C>T http://identifiers.org/clinvar/354976 ^@ NM_014028.3(OSTM1):c.*331A>G http://identifiers.org/clinvar/361094 ^@ NM_017890.4(VPS13B):c.11119+13G>A http://identifiers.org/clinvar/355866 ^@ NM_033071.3(SYNE1):c.15195T>C (p.His5065=) http://identifiers.org/clinvar/356016 ^@ NM_004562.2(PRKN):c.1289G>A (p.Gly430Asp) http://identifiers.org/clinvar/360544 ^@ NM_000535.6(PMS2):c.705+3A>G http://identifiers.org/clinvar/355916 ^@ NM_033071.3(SYNE1):c.6929C>T (p.Thr2310Met) http://identifiers.org/clinvar/356316 ^@ NM_006929.4(SKIV2L):c.452A>G (p.Gln151Arg) http://identifiers.org/clinvar/356116 ^@ NM_000367.4(TPMT):c.339C>T (p.Thr113=) http://identifiers.org/clinvar/356366 ^@ NM_148919.3(PSMB8):c.192C>T (p.Asn64=) http://identifiers.org/clinvar/356166 ^@ NM_001080.3(ALDH5A1):c.*1322C>T http://identifiers.org/clinvar/356216 ^@ NM_001109809.2(ZFP57):c.553A>G (p.Ser185Gly) http://identifiers.org/clinvar/361445 ^@ NM_001385.2(DPYS):c.*200T>C http://identifiers.org/clinvar/361244 ^@ NM_178857.5(RP1L1):c.5643A>G (p.Gly1881=) http://identifiers.org/clinvar/356766 ^@ NM_000322.4(PRPH2):c.*484delT http://identifiers.org/clinvar/361344 ^@ NM_178857.5(RP1L1):c.2441A>G (p.Glu814Gly) http://identifiers.org/clinvar/356616 ^@ NM_005943.5(MOCS1):c.*1770C>T http://identifiers.org/clinvar/356716 ^@ NM_002098.5(GUCA1B):c.*507C>G http://identifiers.org/clinvar/356966 ^@ NM_006502.2(POLH):c.*2513A>T http://identifiers.org/clinvar/357066 ^@ NM_020745.3(AARS2):c.1682G>C (p.Arg561Thr) http://identifiers.org/clinvar/311083 ^@ NM_001845.5(COL4A1):c.82A>G (p.Lys28Glu) http://identifiers.org/clinvar/311133 ^@ NM_001846.3(COL4A2):c.1772C>G (p.Pro591Arg) http://identifiers.org/clinvar/366693 ^@ NM_012144.3(DNAI1):c.1719-11C>T http://identifiers.org/clinvar/311183 ^@ NM_001846.3(COL4A2):c.4617G>A (p.Ala1539=) http://identifiers.org/clinvar/311383 ^@ NM_006783.4(GJB6):c.60C>T (p.Ile20=) http://identifiers.org/clinvar/367422 ^@ NM_033305.2(VPS13A):c.8350T>G (p.Ser2784Ala) http://identifiers.org/clinvar/311733 ^@ NM_004795.3(KL):c.*1750T>C http://identifiers.org/clinvar/367043 ^@ NM_004170.5(SLC1A1):c.441-11G>A http://identifiers.org/clinvar/311833 ^@ NM_001127217.2(SMAD9):c.*2905T>C http://identifiers.org/clinvar/367243 ^@ NM_004817.3(TJP2):c.*729G>A http://identifiers.org/clinvar/367372 ^@ NM_033305.2(VPS13A):c.3083A>G (p.Glu1028Gly) http://identifiers.org/clinvar/367472 ^@ NM_001698.2(AUH):c.*259_*262delTTTA http://identifiers.org/clinvar/367522 ^@ NM_004560.3(ROR2):c.-102G>T http://identifiers.org/clinvar/367572 ^@ NM_000136.2(FANCC):c.*2296G>A http://identifiers.org/clinvar/299246 ^@ NM_006214.3(PHYH):c.792C>T (p.His264=) http://identifiers.org/clinvar/313472 ^@ NM_005982.3(SIX1):c.-184A>C http://identifiers.org/clinvar/313672 ^@ NM_182914.2(SYNE2):c.*103G>A http://identifiers.org/clinvar/313822 ^@ NM_002382.4(MAX):c.-80G>A http://identifiers.org/clinvar/299646 ^@ NM_017433.4(MYO3A):c.610G>A (p.Asp204Asn) http://identifiers.org/clinvar/299746 ^@ NM_014915.2(ANKRD26):c.1565-4T>C http://identifiers.org/clinvar/314222 ^@ NM_182894.2(VSX2):c.*1311G>A http://identifiers.org/clinvar/299296 ^@ NM_001033855.2(DCLRE1C):c.*550dupA http://identifiers.org/clinvar/299896 ^@ NM_020975.4(RET):c.2050C>T (p.Pro684Ser) http://identifiers.org/clinvar/314372 ^@ NM_001040108.1(MLH3):c.3987+7C>A http://identifiers.org/clinvar/305536 ^@ NM_006946.2(SPTBN2):c.6374+15G>A http://identifiers.org/clinvar/299946 ^@ NM_002900.2(RBP3):c.*388G>A http://identifiers.org/clinvar/305586 ^@ NM_006946.2(SPTBN2):c.1434C>T (p.Ser478=) http://identifiers.org/clinvar/299496 ^@ NM_001081.3(CUBN):c.2922C>T (p.Phe974=) http://identifiers.org/clinvar/305736 ^@ NM_003977.3(AIP):c.*64G>A http://identifiers.org/clinvar/305786 ^@ NM_006019.3(TCIRG1):c.555G>C (p.Leu185=) http://identifiers.org/clinvar/300296 ^@ NM_018055.4(NODAL):c.*356G>A http://identifiers.org/clinvar/305986 ^@ NM_001145308.4(LRTOMT):c.-149C>T http://identifiers.org/clinvar/300346 ^@ NM_000281.3(PCBD1):c.*29G>A http://identifiers.org/clinvar/299796 ^@ NM_032844.4(MASTL):c.1703A>C (p.Asn568Thr) http://identifiers.org/clinvar/306199 ^@ NM_000260.3(MYO7A):c.5851G>C (p.Asp1951His) http://identifiers.org/clinvar/306249 ^@ NM_024698.5(SLC25A22):c.*693G>C http://identifiers.org/clinvar/300096 ^@ NM_000124.3(ERCC6):c.-15+11G>A http://identifiers.org/clinvar/306550 ^@ NM_030962.3(SBF2):c.*1686G>A http://identifiers.org/clinvar/306600 ^@ NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) http://identifiers.org/clinvar/329294 ^@ NM_181882.2(PRX):c.-160C>T http://identifiers.org/clinvar/329444 ^@ NM_014297.4(ETHE1):c.197A>G (p.Lys66Arg) http://identifiers.org/clinvar/329494 ^@ NM_212550.4(BLOC1S3):c.*1869G>A http://identifiers.org/clinvar/311333 ^@ NM_021954.3(GJA3):c.1233C>T (p.Leu411=) http://identifiers.org/clinvar/329594 ^@ NM_025136.3(OPA3):c.*4857A>T http://identifiers.org/clinvar/311433 ^@ NM_002010.2(FGF9):c.*274_*277delATGT http://identifiers.org/clinvar/329844 ^@ NM_017636.3(TRPM4):c.267+14C>G http://identifiers.org/clinvar/311533 ^@ NM_014363.5(SACS):c.6561C>T (p.Ile2187=) http://identifiers.org/clinvar/311583 ^@ NM_014363.5(SACS):c.-531G>A http://identifiers.org/clinvar/330044 ^@ NM_144687.3(NLRP12):c.298C>T (p.Pro100Ser) http://identifiers.org/clinvar/311683 ^@ NM_004795.3(KL):c.476A>G (p.Asn159Ser) http://identifiers.org/clinvar/330094 ^@ NM_015629.3(PRPF31):c.177+7G>A http://identifiers.org/clinvar/311783 ^@ NM_000538.3(RFXAP):c.77C>G (p.Pro26Arg) http://identifiers.org/clinvar/330244 ^@ NM_175614.4(NDUFA11):c.-217A>G http://identifiers.org/clinvar/330294 ^@ NM_000064.3(C3):c.3216G>T (p.Arg1072=) http://identifiers.org/clinvar/330344 ^@ NM_000208.3(INSR):c.*4760G>A http://identifiers.org/clinvar/337820 ^@ NM_024411.4(PDYN):c.*743T>C http://identifiers.org/clinvar/337870 ^@ NM_000361.2(THBD):c.*497G>A http://identifiers.org/clinvar/310733 ^@ NM_002108.3(HAL):c.-216A>C http://identifiers.org/clinvar/310783 ^@ NM_003276.2(TMPO):c.*447G>A http://identifiers.org/clinvar/337970 ^@ NM_014588.5(VSX1):c.173C>T (p.Pro58Leu) http://identifiers.org/clinvar/319263 ^@ NM_032575.2(GLIS2):c.*1826C>T http://identifiers.org/clinvar/310983 ^@ NM_002312.3(LIG4):c.1568C>G (p.Ala523Gly) http://identifiers.org/clinvar/319413 ^@ NM_024589.2(ROGDI):c.-320C>G http://identifiers.org/clinvar/311033 ^@ NM_001845.5(COL4A1):c.3949+10C>T http://identifiers.org/clinvar/319514 ^@ NM_015247.2(CYLD):c.*698T>G http://identifiers.org/clinvar/319564 ^@ NM_015247.2(CYLD):c.*4561G>A http://identifiers.org/clinvar/319814 ^@ NM_001043.3(SLC6A2):c.*91C>T http://identifiers.org/clinvar/319914 ^@ NM_000339.2(SLC12A3):c.2272A>C (p.Ile758Leu) http://identifiers.org/clinvar/313122 ^@ NM_001079668.2(NKX2-1):c.*820A>G http://identifiers.org/clinvar/313372 ^@ NM_000161.2(GCH1):c.*1122A>T http://identifiers.org/clinvar/313522 ^@ NM_182914.2(SYNE2):c.6247A>T (p.Ile2083Phe) http://identifiers.org/clinvar/312183 ^@ NM_014252.3(SLC25A15):c.*48T>A http://identifiers.org/clinvar/321253 ^@ NM_000303.2(PMM2):c.*972C>T http://identifiers.org/clinvar/312233 ^@ NM_003701.3(TNFSF11):c.403G>A (p.Val135Ile) http://identifiers.org/clinvar/321203 ^@ NM_000512.4(GALNS):c.566+5T>C http://identifiers.org/clinvar/321303 ^@ NM_000135.2(FANCA):c.*1011C>T http://identifiers.org/clinvar/312283 ^@ NM_000321.2(RB1):c.393C>G (p.Phe131Leu) http://identifiers.org/clinvar/321557 ^@ NM_000833.4(GRIN2A):c.*2975G>A http://identifiers.org/clinvar/314172 ^@ NM_005589.3(ALDH6A1):c.1397T>C (p.Val466Ala) http://identifiers.org/clinvar/321707 ^@ NM_002470.3(MYH3):c.*31T>G http://identifiers.org/clinvar/321807 ^@ NM_001303.3(COX10):c.-40G>A http://identifiers.org/clinvar/342221 ^@ NM_000487.5(ARSA):c.*682G>C http://identifiers.org/clinvar/326745 ^@ NM_015559.2(SETBP1):c.2310G>A (p.Ala770=) http://identifiers.org/clinvar/367722 ^@ NM_080632.2(UPF3B):c.*741G>A http://identifiers.org/clinvar/326795 ^@ NM_015559.2(SETBP1):c.*2987dupT http://identifiers.org/clinvar/326845 ^@ NM_144612.6(LOXHD1):c.3924C>T (p.Tyr1308=) http://identifiers.org/clinvar/326895 ^@ NM_017653.3(DYM):c.1251+12T>C http://identifiers.org/clinvar/368072 ^@ NM_000054.4(AVPR2):c.125C>T (p.Ala42Val) http://identifiers.org/clinvar/329694 ^@ NM_000554.5(CRX):c.78G>A (p.Met26Ile) http://identifiers.org/clinvar/329744 ^@ NM_000554.5(CRX):c.*1654dupA http://identifiers.org/clinvar/329994 ^@ NM_144687.3(NLRP12):c.*161A>C http://identifiers.org/clinvar/330144 ^@ NM_024075.4(TSEN34):c.*928A>G http://identifiers.org/clinvar/330194 ^@ NM_003283.5(TNNT1):c.355G>A (p.Glu119Lys) http://identifiers.org/clinvar/330394 ^@ NM_000208.3(INSR):c.*2145_*2146dupAA http://identifiers.org/clinvar/330444 ^@ NM_000208.3(INSR):c.3370-12T>G http://identifiers.org/clinvar/330594 ^@ NM_030957.3(ADAMTS10):c.1987C>A (p.Pro663Thr) http://identifiers.org/clinvar/338020 ^@ NM_006899.4(IDH3B):c.830T>C (p.Ile277Thr) http://identifiers.org/clinvar/338070 ^@ NM_015338.5(ASXL1):c.-93C>G http://identifiers.org/clinvar/338270 ^@ NM_000687.3(AHCY):c.973-7C>T http://identifiers.org/clinvar/329394 ^@ NM_001022.3(RPS19):c.172+5G>C http://identifiers.org/clinvar/338370 ^@ NM_153638.3(PANK2):c.*407A>G http://identifiers.org/clinvar/329894 ^@ NM_007254.3(PNKP):c.1231_1234delACAG (p.Thr411Profs) http://identifiers.org/clinvar/337720 ^@ NM_000214.2(JAG1):c.*1212_*1214delACT http://identifiers.org/clinvar/337770 ^@ NM_000214.2(JAG1):c.-384T>G http://identifiers.org/clinvar/341621 ^@ NM_006941.3(SOX10):c.429-12A>G http://identifiers.org/clinvar/341671 ^@ NM_022098.3(XPNPEP3):c.1049A>G (p.Asn350Ser) http://identifiers.org/clinvar/341771 ^@ NM_001429.3(EP300):c.-133A>G http://identifiers.org/clinvar/392490 ^@ NM_000264.3(PTCH1):c.1215+14C>T http://identifiers.org/clinvar/387012 ^@ NM_007327.3(GRIN1):c.394-19G>A http://identifiers.org/clinvar/389951 ^@ NM_004281.3(BAG3):c.498C>T (p.His166=) http://identifiers.org/clinvar/381328 ^@ NM_000077.4(CDKN2A):c.-19546G>C http://identifiers.org/clinvar/384873 ^@ NM_000507.3(FBP1):c.*4C>T http://identifiers.org/clinvar/381929 ^@ NM_000314.6(PTEN):c.210-6T>C http://identifiers.org/clinvar/385523 ^@ NM_000051.3(ATM):c.1607+13T>C http://identifiers.org/clinvar/386862 ^@ NM_006158.4(NEFL):c.1275C>T (p.Gly425=) http://identifiers.org/clinvar/381028 ^@ NM_030962.3(SBF2):c.2937G>A (p.Leu979=) http://identifiers.org/clinvar/389001 ^@ NM_030962.3(SBF2):c.2907A>G (p.Gly969=) http://identifiers.org/clinvar/390501 ^@ NM_014000.2(VCL):c.261G>A (p.Lys87=) http://identifiers.org/clinvar/378885 ^@ NM_000051.3(ATM):c.3994-12G>T http://identifiers.org/clinvar/389751 ^@ NM_000051.3(ATM):c.4109+15A>C http://identifiers.org/clinvar/385323 ^@ NM_000314.6(PTEN):c.664G>A (p.Val222Met) http://identifiers.org/clinvar/392040 ^@ NM_018400.3(SCN3B):c.*23-15T>A http://identifiers.org/clinvar/379835 ^@ NM_000834.3(GRIN2B):c.1356C>T (p.Tyr452=) http://identifiers.org/clinvar/389051 ^@ NM_016035.4(COQ4):c.202+20G>A http://identifiers.org/clinvar/391640 ^@ NM_000719.6(CACNA1C):c.1391-17C>G http://identifiers.org/clinvar/379685 ^@ NM_000920.3(PC):c.1181T>C (p.Ile394Thr) http://identifiers.org/clinvar/379735 ^@ NM_024678.5(NARS2):c.727C>T (p.Arg243Ter) http://identifiers.org/clinvar/384923 ^@ NM_020822.2(KCNT1):c.1200+16G>A http://identifiers.org/clinvar/383421 ^@ NM_000059.3(BRCA2):c.1218C>T (p.Ala406=) http://identifiers.org/clinvar/390601 ^@ NM_006231.3(POLE):c.48T>C (p.Asp16=) http://identifiers.org/clinvar/391440 ^@ NM_000834.3(GRIN2B):c.4410T>C (p.Asn1470=) http://identifiers.org/clinvar/380928 ^@ NM_014844.4(TECPR2):c.1614A>G (p.Pro538=) http://identifiers.org/clinvar/385423 ^@ NM_006231.3(POLE):c.3252C>T (p.Pro1084=) http://identifiers.org/clinvar/384723 ^@ NM_006939.3(SOS2):c.3490-18A>C http://identifiers.org/clinvar/387912 ^@ NM_021957.3(GYS2):c.1554A>G (p.Glu518=) http://identifiers.org/clinvar/379285 ^@ NM_014191.3(SCN8A):c.3150T>G (p.Gly1050=) http://identifiers.org/clinvar/378735 ^@ NM_001065.3(TNFRSF1A):c.935G>A (p.Arg312Lys) http://identifiers.org/clinvar/381678 ^@ NM_021150.3(GRIP1):c.1489A>G (p.Ile497Val) http://identifiers.org/clinvar/379785 ^@ NM_000494.3(COL17A1):c.332-1G>A http://identifiers.org/clinvar/385173 ^@ NM_001134363.2(RBM20):c.3000T>A (p.Pro1000=) http://identifiers.org/clinvar/392140 ^@ NM_003482.3(KMT2D):c.2317C>T (p.Gln773Ter) http://identifiers.org/clinvar/390651 ^@ NM_201590.2(CACNB2):c.1327-8G>A http://identifiers.org/clinvar/391690 ^@ NM_004984.2(KIF5A):c.604A>C (p.Ser202Arg) http://identifiers.org/clinvar/381478 ^@ NM_000138.4(FBN1):c.5423-18G>A http://identifiers.org/clinvar/378985 ^@ NM_000051.3(ATM):c.5006-18T>A http://identifiers.org/clinvar/389101 ^@ NM_000051.3(ATM):c.7928-6A>T http://identifiers.org/clinvar/381178 ^@ NM_001013703.3(EIF2AK4):c.99T>C (p.Ile33=) http://identifiers.org/clinvar/378785 ^@ NM_000548.4(TSC2):c.2743-19G>A http://identifiers.org/clinvar/384222 ^@ NM_000138.4(FBN1):c.2113+2T>G http://identifiers.org/clinvar/387762 ^@ NM_025152.2(NUBPL):c.422+8T>C http://identifiers.org/clinvar/392090 ^@ NM_005477.2(HCN4):c.2003G>A (p.Arg668Gln) http://identifiers.org/clinvar/391490 ^@ NM_020778.4(ALPK3):c.903C>A (p.Ile301=) http://identifiers.org/clinvar/385273 ^@ NM_002693.2(POLG):c.2427-18C>A http://identifiers.org/clinvar/380978 ^@ NM_000548.4(TSC2):c.2837+12G>A http://identifiers.org/clinvar/383471 ^@ NM_006086.3(TUBB3):c.1113C>T (p.Ser371=) http://identifiers.org/clinvar/47438 ^@ NM_133378.4(TTN):c.76819T>C (p.Trp25607Arg) http://identifiers.org/clinvar/47488 ^@ NM_133378.4(TTN):c.81613A>T (p.Ile27205Leu) http://identifiers.org/clinvar/48179 ^@ NM_194248.2(OTOF):c.1800G>A (p.Ser600=) http://identifiers.org/clinvar/48229 ^@ NM_194248.2(OTOF):c.4023+1G>A http://identifiers.org/clinvar/48279 ^@ NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) http://identifiers.org/clinvar/48330 ^@ NM_201555.1(FHL2):c.724C>T (p.Arg242Trp) http://identifiers.org/clinvar/48380 ^@ NM_206933.2(USH2A):c.11677C>A (p.Pro3893Thr) http://identifiers.org/clinvar/48430 ^@ NM_206933.2(USH2A):c.14184C>T (p.Cys4728=) http://identifiers.org/clinvar/48480 ^@ NM_206933.2(USH2A):c.1954A>G (p.Ser652Gly) http://identifiers.org/clinvar/14 ^@ NM_000410.3(HFE):c.892+48G>A http://identifiers.org/clinvar/29 ^@ NM_138413.3(HOGA1):c.944_946delAGG (p.Glu315del) http://identifiers.org/clinvar/57 ^@ NM_006642.3(SDCCAG8):c.1420delG (p.Glu474Serfs) http://identifiers.org/clinvar/62 ^@ NM_001708.2(OPN1SW):c.235G>A (p.Gly79Arg) http://identifiers.org/clinvar/149 ^@ NM_000274.3(OAT):c.1186C>T (p.Arg396Ter) http://identifiers.org/clinvar/172 ^@ NM_000274.3(OAT):c.1180T>C (p.Cys394Arg) http://identifiers.org/clinvar/337 ^@ NM_000267.3(NF1):c.5448dupC (p.Ser1817Leufs) http://identifiers.org/clinvar/360 ^@ NF1, DEL http://identifiers.org/clinvar/374 ^@ NF1, IVS27DS, G-C, +1 http://identifiers.org/clinvar/411 ^@ NM_016360.3(TACO1):c.472dupC (p.His158Profs) http://identifiers.org/clinvar/538 ^@ NM_001142800.1(EYS):c.9405T>A (p.Tyr3135Ter) http://identifiers.org/clinvar/973 ^@ NM_001113378.1(FANCI):c.3853C>T (p.Arg1285Ter) http://identifiers.org/clinvar/1168 ^@ NM_000505.3(F12):c.158A>G (p.Tyr53Cys) http://identifiers.org/clinvar/1212 ^@ GNASAS, 4.7-KB DEL http://identifiers.org/clinvar/1263 ^@ NM_001142279.2(RNASEH2B):c.554T>G (p.Val185Gly) http://identifiers.org/clinvar/1308 ^@ NM_001174089.1(SLC4A11):c.305_308delAGAA (p.Lys102Thrfs) http://identifiers.org/clinvar/1353 ^@ NM_170601.4(SIAE):c.1211T>C (p.Phe404Ser) http://identifiers.org/clinvar/1444 ^@ HMBS, IVS1DS, G-T, +1 http://identifiers.org/clinvar/1535 ^@ LPL, IVS2DS, G-A, +1 http://identifiers.org/clinvar/1580 ^@ NM_139281.2(WDR36):c.1973A>G (p.Asp658Gly) http://identifiers.org/clinvar/1628 ^@ NM_000018.3(ACADVL):c.1144A>C (p.Lys382Gln) http://identifiers.org/clinvar/1675 ^@ MANBA, IVS-AS, A-G, -2 http://identifiers.org/clinvar/1769 ^@ nsv513794 http://identifiers.org/clinvar/1816 ^@ NM_152594.2(SPRED1):c.131T>A (p.Val44Asp) http://identifiers.org/clinvar/1861 ^@ NM_022912.2(REEP1):c.*43G>T http://identifiers.org/clinvar/1906 ^@ HLCS, 1-BP DEL, 780G http://identifiers.org/clinvar/1951 ^@ NM_145261.3(DNAJC19):c.130-1G>C http://identifiers.org/clinvar/2853 ^@ CNNM4, 83-BP DEL, NT62 http://identifiers.org/clinvar/3322 ^@ NM_020436.4(SALL4):c.2593C>T (p.Arg865Ter) http://identifiers.org/clinvar/10167 ^@ NM_000132.3(F8):c.323A>C (p.Lys108Thr) http://identifiers.org/clinvar/10211 ^@ NM_000132.3(F8):c.1293delG (p.Asn432Thrfs) http://identifiers.org/clinvar/10257 ^@ F8, 1-BP INS, A, CODON 1414 http://identifiers.org/clinvar/10301 ^@ NM_000132.3(F8):c.5961delA (p.Glu1988Argfs) http://identifiers.org/clinvar/10347 ^@ F8, EX19-21DEL http://identifiers.org/clinvar/37203 ^@ NM_000402.4(G6PD):c.632A>T (p.Asp211Val) http://identifiers.org/clinvar/11115 ^@ NM_000377.2(WAS):c.257G>A (p.Arg86His) http://identifiers.org/clinvar/11161 ^@ CD40LG, THR211ASP http://identifiers.org/clinvar/11206 ^@ ARX, 1-BP DEL, 1465G http://identifiers.org/clinvar/11251 ^@ NM_004006.2(DMD):c.2317A>G (p.Lys773Glu) http://identifiers.org/clinvar/11297 ^@ NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser) http://identifiers.org/clinvar/11342 ^@ NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) http://identifiers.org/clinvar/11388 ^@ NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) http://identifiers.org/clinvar/12312 ^@ NM_001007792.1(NTRK1):c.1651A>G (p.Met551Val) http://identifiers.org/clinvar/12363 ^@ NM_000546.5(TP53):c.358A>T (p.Lys120Ter) http://identifiers.org/clinvar/12414 ^@ NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp) http://identifiers.org/clinvar/12465 ^@ NM_003289.3(TPM2):c.415_417delGAG (p.Glu139del) http://identifiers.org/clinvar/12515 ^@ NM_003242.5(TGFBR2):c.1379G>A (p.Arg460His) http://identifiers.org/clinvar/12565 ^@ NM_001128177.1(THRB):c.1302C>A (p.Cys434Ter) http://identifiers.org/clinvar/12616 ^@ NM_001063.3(TF):c.2012G>A (p.Gly671Glu) http://identifiers.org/clinvar/12666 ^@ PRKAR1A, 1-BP DEL, 710G http://identifiers.org/clinvar/12717 ^@ THBD, -33G-A http://identifiers.org/clinvar/12768 ^@ NM_003172.3(SURF1):c.371G>A (p.Gly124Glu) http://identifiers.org/clinvar/12818 ^@ NM_003106.3(SOX2):c.463C>T (p.Gln155Ter) http://identifiers.org/clinvar/12869 ^@ NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) http://identifiers.org/clinvar/12919 ^@ NM_000702.3(ATP1A2):c.2192T>C (p.Met731Thr) http://identifiers.org/clinvar/12969 ^@ NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) http://identifiers.org/clinvar/13020 ^@ NM_000539.3(RHO):c.260T>A (p.Val87Asp) http://identifiers.org/clinvar/13071 ^@ NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) http://identifiers.org/clinvar/13122 ^@ NM_000537.3(REN):c.1159C>T (p.Arg387Ter) http://identifiers.org/clinvar/13173 ^@ NM_000322.4(PRPH2):c.629C>G (p.Pro210Arg) http://identifiers.org/clinvar/13224 ^@ BCHE Johannesburg http://identifiers.org/clinvar/13275 ^@ NM_000141.4(FGFR2):c.1026C>G (p.Cys342Trp) http://identifiers.org/clinvar/13326 ^@ NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) http://identifiers.org/clinvar/13376 ^@ NM_006006.4(ZBTB16):c.1849A>G (p.Met617Val) http://identifiers.org/clinvar/13430 ^@ NM_000371.3(TTR):c.149T>C (p.Val50Ala) http://identifiers.org/clinvar/13482 ^@ NM_000217.2(KCNA1):c.520G>T (p.Val174Phe) http://identifiers.org/clinvar/13532 ^@ NM_000174.4(GP9):c.167T>C (p.Leu56Pro) http://identifiers.org/clinvar/36655 ^@ NM_033118.3(MYLK2):c.972+14G>A http://identifiers.org/clinvar/36708 ^@ NM_002834.4(PTPN11):c.255C>T (p.His85=) http://identifiers.org/clinvar/36761 ^@ NM_198056.2(SCN5A):c.4218G>A (p.Gly1406=) http://identifiers.org/clinvar/36811 ^@ NM_000545.6(HNF1A):c.1745A>G (p.His582Arg) http://identifiers.org/clinvar/36861 ^@ NM_003242.5(TGFBR2):c.1152T>A (p.Asn384Lys) http://identifiers.org/clinvar/36912 ^@ NM_000377.2(WAS):c.538C>A (p.His180Asn) http://identifiers.org/clinvar/37007 ^@ CAMTA1, 539-KB DUP, EX3-5 http://identifiers.org/clinvar/37088 ^@ NM_001135599.3(TGFB2):c.771C>A (p.Cys257Ter) http://identifiers.org/clinvar/37302 ^@ MERTK, 9-KB DEL http://identifiers.org/clinvar/37386 ^@ NM_007294.3(BRCA1):c.1016delA (p.Lys339Argfs) http://identifiers.org/clinvar/37438 ^@ NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) http://identifiers.org/clinvar/37489 ^@ NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) http://identifiers.org/clinvar/37547 ^@ NM_007294.3(BRCA1):c.3771_3772delGGinsC (p.Glu1257Aspfs) http://identifiers.org/clinvar/37600 ^@ NM_007294.3(BRCA1):c.457A>C (p.Ser153Arg) http://identifiers.org/clinvar/37655 ^@ NM_007294.3(BRCA1):c.5289dupG (p.Leu1764Alafs) http://identifiers.org/clinvar/37710 ^@ NM_007294.3(BRCA1):c.952_1015del64 (p.His318Argfs) http://identifiers.org/clinvar/38994 ^@ NM_004614.4(TK2):c.575G>A (p.Arg192Lys) http://identifiers.org/clinvar/39045 ^@ NM_024312.4(GNPTAB):c.2089dupC (p.Leu697Profs) http://identifiers.org/clinvar/50893 ^@ NM_024312.4(GNPTAB):c.3392C>T (p.Ser1131Phe) http://identifiers.org/clinvar/39517 ^@ NM_012082.3(ZFPM2):c.681T>G (p.Ile227Met) http://identifiers.org/clinvar/39567 ^@ CLCF1, CYS16ARG http://identifiers.org/clinvar/39618 ^@ NM_006206.4(PDGFRA):c.3155C>T (p.Thr1052Met) http://identifiers.org/clinvar/39669 ^@ NM_000314.6(PTEN):c.392C>T (p.Thr131Ile) http://identifiers.org/clinvar/39721 ^@ NM_178012.4(TUBB2B):c.767A>G (p.Asn256Ser) http://identifiers.org/clinvar/39772 ^@ NM_002633.2(PGM1):c.1507C>T (p.Arg503Ter) http://identifiers.org/clinvar/39823 ^@ NM_001289.5(CLIC2):c.303C>G (p.His101Gln) http://identifiers.org/clinvar/39966 ^@ NM_000827.3(GRIA1):c.1906G>A (p.Ala636Thr) http://identifiers.org/clinvar/40066 ^@ NM_006563.4(KLF1):c.1071C>A (p.His357Gln) http://identifiers.org/clinvar/40215 ^@ MEF2C, 1-BP DUP, 99T http://identifiers.org/clinvar/40352 ^@ NM_004333.4(BRAF):c.784C>A (p.Gln262Lys) http://identifiers.org/clinvar/40423 ^@ NM_005188.3(CBL):c.2360G>A (p.Arg787His) http://identifiers.org/clinvar/40492 ^@ NM_002834.4(PTPN11):c.179_182delGTGAinsT (p.Gly60_Asp61delinsVal) http://identifiers.org/clinvar/40550 ^@ NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser) http://identifiers.org/clinvar/40610 ^@ NM_002880.3(RAF1):c.917C>T (p.Ser306Leu) http://identifiers.org/clinvar/40684 ^@ NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) http://identifiers.org/clinvar/40772 ^@ NM_030662.3(MAP2K2):c.274A>G (p.Arg92Gly) http://identifiers.org/clinvar/40977 ^@ NM_032487.4(ACTRT3):c.831_*2687del2976 http://identifiers.org/clinvar/41033 ^@ NM_000748.2(CHRNB2):c.859G>T (p.Val287Leu) http://identifiers.org/clinvar/41146 ^@ NM_003611.2(OFD1):c.823C>T (p.Gln275Ter) http://identifiers.org/clinvar/41198 ^@ NM_003977.3(AIP):c.714C>T (p.Cys238=) http://identifiers.org/clinvar/51158 ^@ NM_000059.3(BRCA2):c.1627C>A (p.His543Asn) http://identifiers.org/clinvar/51209 ^@ NM_000059.3(BRCA2):c.1825C>T (p.Gln609Ter) http://identifiers.org/clinvar/51261 ^@ NM_000059.3(BRCA2):c.2259delT (p.Gln754Asnfs) http://identifiers.org/clinvar/51312 ^@ NM_000059.3(BRCA2):c.2599A>G (p.Thr867Ala) http://identifiers.org/clinvar/51362 ^@ NM_000059.3(BRCA2):c.2860_2862delGAG (p.Glu954del) http://identifiers.org/clinvar/51412 ^@ NM_000059.3(BRCA2):c.3166C>T (p.Gln1056Ter) http://identifiers.org/clinvar/51464 ^@ NM_000059.3(BRCA2):c.3442C>T (p.Gln1148Ter) http://identifiers.org/clinvar/51515 ^@ NM_000059.3(BRCA2):c.3749A>G (p.Glu1250Gly) http://identifiers.org/clinvar/51566 ^@ NM_000059.3(BRCA2):c.3936_3954del19 (p.Asn1312Lysfs) http://identifiers.org/clinvar/51877 ^@ NM_000059.3(BRCA2):c.5526delT (p.Ala1843Hisfs) http://identifiers.org/clinvar/51929 ^@ NM_000059.3(BRCA2):c.5754_5755delTA (p.His1918Glnfs) http://identifiers.org/clinvar/51980 ^@ NM_000059.3(BRCA2):c.5981A>G (p.Gln1994Arg) http://identifiers.org/clinvar/52031 ^@ NM_000059.3(BRCA2):c.6206delT (p.Leu2069Terfs) http://identifiers.org/clinvar/52084 ^@ NM_000059.3(BRCA2):c.6406_6407delTT (p.Leu2136Lysfs) http://identifiers.org/clinvar/52935 ^@ NM_000218.2(KCNQ1):c.1028C>T (p.Pro343Leu) http://identifiers.org/clinvar/52985 ^@ NM_000218.2(KCNQ1):c.1513_1514delCA (p.Gln505Alafs) http://identifiers.org/clinvar/53035 ^@ NM_000218.2(KCNQ1):c.332A>G (p.Tyr111Cys) http://identifiers.org/clinvar/53085 ^@ NM_000218.2(KCNQ1):c.686G>A (p.Gly229Asp) http://identifiers.org/clinvar/53136 ^@ NM_000218.2(KCNQ1):c.940G>C (p.Gly314Arg) http://identifiers.org/clinvar/53188 ^@ NM_000492.3(CFTR):c.1106_1111dupACAAAA (p.Lys370_Ile371insAsnLys) http://identifiers.org/clinvar/53241 ^@ NM_000492.3(CFTR):c.1393-18G>A http://identifiers.org/clinvar/53291 ^@ NM_000492.3(CFTR):c.1585-9T>A http://identifiers.org/clinvar/53342 ^@ NM_000492.3(CFTR):c.1687T>G (p.Tyr563Asp) http://identifiers.org/clinvar/53392 ^@ NM_000492.3(CFTR):c.1802T>C (p.Ile601Thr) http://identifiers.org/clinvar/53444 ^@ NM_000492.3(CFTR):c.2156T>A (p.Leu719Ter) http://identifiers.org/clinvar/53497 ^@ NM_000492.3(CFTR):c.2490+2_2490+7delTAGGTA http://identifiers.org/clinvar/53547 ^@ NM_000492.3(CFTR):c.2719A>G (p.Ile907Val) http://identifiers.org/clinvar/53597 ^@ NM_000492.3(CFTR):c.2918T>A (p.Leu973His) http://identifiers.org/clinvar/53649 ^@ NM_000492.3(CFTR):c.3094T>A (p.Tyr1032Asn) http://identifiers.org/clinvar/53700 ^@ NM_000492.3(CFTR):c.326_327delAT (p.Tyr109Terfs) http://identifiers.org/clinvar/53750 ^@ NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) http://identifiers.org/clinvar/53801 ^@ NM_000492.3(CFTR):c.3745G>A (p.Gly1249Arg) http://identifiers.org/clinvar/53855 ^@ NM_000492.3(CFTR):c.3927G>T (p.Gln1309His) http://identifiers.org/clinvar/53906 ^@ NM_000492.3(CFTR):c.415_416insGA (p.His139Argfs) http://identifiers.org/clinvar/53956 ^@ NM_000492.3(CFTR):c.455T>G (p.Met152Arg) http://identifiers.org/clinvar/54006 ^@ NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) http://identifiers.org/clinvar/54056 ^@ NM_000492.3(CFTR):c.773delG (p.Arg258Asnfs) http://identifiers.org/clinvar/54108 ^@ NM_007294.3(BRCA1):c.1054G>T (p.Glu352Ter) http://identifiers.org/clinvar/54158 ^@ NM_007294.3(BRCA1):c.1188delT (p.Asp396Glufs) http://identifiers.org/clinvar/101202 ^@ NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg) http://identifiers.org/clinvar/101252 ^@ NM_000090.3(COL3A1):c.2995G>C (p.Gly999Arg) http://identifiers.org/clinvar/101302 ^@ NM_000090.3(COL3A1):c.962G>T (p.Gly321Val) http://identifiers.org/clinvar/101352 ^@ NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val) http://identifiers.org/clinvar/101402 ^@ NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg) http://identifiers.org/clinvar/101452 ^@ NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser) http://identifiers.org/clinvar/101504 ^@ NM_173812.4(DPY19L2):c.869G>A (p.Arg290His) http://identifiers.org/clinvar/102465 ^@ NM_000277.1(PAH):c.1006C>T (p.Gln336Ter) http://identifiers.org/clinvar/102517 ^@ NM_000277.1(PAH):c.1089G>T (p.Lys363Asn) http://identifiers.org/clinvar/102573 ^@ NM_000277.1(PAH):c.122T>C (p.Leu41Pro) http://identifiers.org/clinvar/102625 ^@ NM_000277.1(PAH):c.199T>C (p.Ser67Pro) http://identifiers.org/clinvar/102680 ^@ NM_000277.1(PAH):c.442G>A (p.Gly148Ser) http://identifiers.org/clinvar/102730 ^@ NM_000277.1(PAH):c.535T>C (p.Tyr179His) http://identifiers.org/clinvar/102781 ^@ NM_000277.1(PAH):c.674C>G (p.Pro225Arg) http://identifiers.org/clinvar/102831 ^@ NM_000277.1(PAH):c.775G>A (p.Ala259Thr) http://identifiers.org/clinvar/102883 ^@ NM_000277.1(PAH):c.869A>G (p.His290Arg) http://identifiers.org/clinvar/102941 ^@ NM_006092.2(NOD1):c.-585G>C http://identifiers.org/clinvar/102991 ^@ NM_000246.3(CIITA):c.1007-54C>T http://identifiers.org/clinvar/103041 ^@ NM_001079821.2(NLRP3):c.3011+129T>C http://identifiers.org/clinvar/103091 ^@ NM_006092.2(NOD1):c.1458C>T (p.Ser486=) http://identifiers.org/clinvar/103141 ^@ NM_024618.3(NLRX1):c.2354+248A>G http://identifiers.org/clinvar/103191 ^@ NM_032206.4(NLRC5):c.424+238C>T http://identifiers.org/clinvar/125767 ^@ NM_007294.3(BRCA1):c.5152+13C>A http://identifiers.org/clinvar/125844 ^@ NM_007294.3(BRCA1):c.5406+9T>C http://identifiers.org/clinvar/125901 ^@ NM_007294.3(BRCA1):c.670+45G>A http://identifiers.org/clinvar/125967 ^@ NM_000059.3(BRCA2):c.-26G>T http://identifiers.org/clinvar/126029 ^@ NM_000059.3(BRCA2):c.3966C>T (p.Asn1322=) http://identifiers.org/clinvar/126102 ^@ NM_000059.3(BRCA2):c.6449_6450insTA (p.Lys2150Asnfs) http://identifiers.org/clinvar/126162 ^@ NM_000059.3(BRCA2):c.7921_7926delGAATTTinsAG (p.Glu2641Argfs) http://identifiers.org/clinvar/126229 ^@ NM_001080522.2(CC2D2A):c.156C>T (p.Ser52=) http://identifiers.org/clinvar/126279 ^@ NM_015272.4(RPGRIP1L):c.3790G>A (p.Asp1264Asn) http://identifiers.org/clinvar/126330 ^@ NM_020732.3(ARID1B):c.4014-7A>G http://identifiers.org/clinvar/126386 ^@ NM_016381.5(TREX1):c.531_533dupGGC (p.Ala178_His179insAla) http://identifiers.org/clinvar/126515 ^@ NM_005228.4(EGFR):c.2327G>A (p.Arg776His) http://identifiers.org/clinvar/126591 ^@ NM_024675.3(PALB2):c.1145G>T (p.Ser382Ile) http://identifiers.org/clinvar/126642 ^@ NM_024675.3(PALB2):c.2256A>G (p.Gly752=) http://identifiers.org/clinvar/126693 ^@ NM_024675.3(PALB2):c.2865T>A (p.Ser955Arg) http://identifiers.org/clinvar/126743 ^@ NM_024675.3(PALB2):c.344G>T (p.Gly115Val) http://identifiers.org/clinvar/126794 ^@ NM_000321.2(RB1):c.2101G>A (p.Asp701Asn) http://identifiers.org/clinvar/126845 ^@ NM_000321.2(RB1):c.227_228dupTA (p.Thr77Terfs) http://identifiers.org/clinvar/126904 ^@ NM_015884.3(MBTPS2):c.671-9T>G http://identifiers.org/clinvar/126954 ^@ NM_000428.2(LTBP2):c.3571G>A (p.Glu1191Lys) http://identifiers.org/clinvar/127004 ^@ NM_005732.3(RAD50):c.3230G>A (p.Arg1077Gln) http://identifiers.org/clinvar/127054 ^@ NM_134424.3(RAD52):c.*315T>A http://identifiers.org/clinvar/127111 ^@ NM_005013.2(NUCB2):c.-166G>C http://identifiers.org/clinvar/127192 ^@ NM_005096.3(ZMYM3):c.1321C>T (p.Arg441Trp) http://identifiers.org/clinvar/127278 ^@ NM_000038.5(APC):c.1825G>A (p.Val609Ile) http://identifiers.org/clinvar/127328 ^@ NM_000051.3(ATM):c.1010G>A (p.Arg337His) http://identifiers.org/clinvar/127378 ^@ NM_000051.3(ATM):c.3931C>T (p.Gln1311Ter) http://identifiers.org/clinvar/159963 ^@ NM_006306.3(SMC1A):c.616-6G>A http://identifiers.org/clinvar/160788 ^@ GRCh38/hg38 12q14.1(chr12:58773370-59370427)x1 http://identifiers.org/clinvar/160838 ^@ GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1 http://identifiers.org/clinvar/160891 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 http://identifiers.org/clinvar/160943 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 http://identifiers.org/clinvar/160993 ^@ GRCh38/hg38 6p25.3(chr6:259528-293493)x3 http://identifiers.org/clinvar/161044 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/161094 ^@ NM_006208.2(ENPP1):c.2002G>A (p.Glu668Lys) http://identifiers.org/clinvar/161144 ^@ NM_152296.4(ATP1A3):c.2429T>G (p.Ile810Ser) http://identifiers.org/clinvar/161226 ^@ NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) http://identifiers.org/clinvar/161326 ^@ NM_000257.3(MYH7):c.2608C>T (p.Arg870Cys) http://identifiers.org/clinvar/161276 ^@ NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) http://identifiers.org/clinvar/161376 ^@ NM_000540.2(RYR1):c.11557G>A (p.Glu3853Lys) http://identifiers.org/clinvar/161442 ^@ NM_002529.3(NTRK1):c.717+4A>T http://identifiers.org/clinvar/161545 ^@ NM_001166664.1(CD244):c.695G>A (p.Arg232Lys) http://identifiers.org/clinvar/161595 ^@ NM_002337.3(LRPAP1):c.347A>G (p.Asn116Ser) http://identifiers.org/clinvar/161495 ^@ NM_001018074.1(NR3C1):c.1244G>T (p.Gly415Val) http://identifiers.org/clinvar/161695 ^@ NM_015525.3(IBTK):c.3506A>T (p.Asn1169Ile) http://identifiers.org/clinvar/161645 ^@ NM_006157.4(NELL1):c.1666G>T (p.Gly556Ter) http://identifiers.org/clinvar/162079 ^@ NM_002019.4(FLT1):c.2871A>T (p.Leu957=) http://identifiers.org/clinvar/179174 ^@ NM_206933.2(USH2A):c.14602G>A (p.Val4868Met) http://identifiers.org/clinvar/179324 ^@ NM_001035.2(RYR2):c.5639A>T (p.Glu1880Val) http://identifiers.org/clinvar/179124 ^@ NM_133378.4(TTN):c.83772T>G (p.Tyr27924Ter) http://identifiers.org/clinvar/178205 ^@ NM_001256850.1(TTN):c.53689A>G (p.Thr17897Ala) http://identifiers.org/clinvar/166524 ^@ NM_206933.2(USH2A):c.1608C>T (p.Cys536=) http://identifiers.org/clinvar/178155 ^@ NM_133378.4(TTN):c.96206G>A (p.Arg32069Gln) http://identifiers.org/clinvar/179224 ^@ NM_133378.4(TTN):c.40370G>A (p.Ser13457Asn) http://identifiers.org/clinvar/178874 ^@ NM_133379.4(TTN):c.13589T>G (p.Ile4530Arg) http://identifiers.org/clinvar/178823 ^@ NM_133378.4(TTN):c.31994-4A>G http://identifiers.org/clinvar/178255 ^@ NM_133378.4(TTN):c.12502G>A (p.Ala4168Thr) http://identifiers.org/clinvar/179574 ^@ NM_133432.3(TTN):c.12940G>A (p.Val4314Ile) http://identifiers.org/clinvar/166317 ^@ NM_133378.4(TTN):c.5052T>C (p.Tyr1684=) http://identifiers.org/clinvar/178505 ^@ NM_194248.2(OTOF):c.4800-11C>T http://identifiers.org/clinvar/166605 ^@ NM_006005.3(WFS1):c.2323T>G (p.Phe775Val) http://identifiers.org/clinvar/178655 ^@ NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) http://identifiers.org/clinvar/179524 ^@ NM_198056.2(SCN5A):c.3261G>A (p.Glu1087=) http://identifiers.org/clinvar/179374 ^@ NM_000441.1(SLC26A4):c.1283C>T (p.Ala428Val) http://identifiers.org/clinvar/178723 ^@ NM_001277115.1(DNAH11):c.1065A>G (p.Pro355=) http://identifiers.org/clinvar/179624 ^@ NM_172244.2(SGCD):c.383-17_383-10delCTCTCTAT http://identifiers.org/clinvar/200930 ^@ NM_170707.3(LMNA):c.329G>C (p.Arg110Pro) http://identifiers.org/clinvar/199685 ^@ NM_000069.2(CACNA1S):c.2047C>T (p.Arg683Cys) http://identifiers.org/clinvar/201289 ^@ NM_001035.2(RYR2):c.37T>C (p.Phe13Leu) http://identifiers.org/clinvar/201235 ^@ NM_001035.2(RYR2):c.3151C>T (p.Arg1051Cys) http://identifiers.org/clinvar/201180 ^@ NM_001035.2(RYR2):c.11402+7_11402+9delACT http://identifiers.org/clinvar/201346 ^@ NM_001035.2(RYR2):c.13411G>A (p.Gly4471Arg) http://identifiers.org/clinvar/201404 ^@ NM_001035.2(RYR2):c.14278G>A (p.Val4760Ile) http://identifiers.org/clinvar/201513 ^@ NM_198056.2(SCN5A):c.4397T>C (p.Ile1466Thr) http://identifiers.org/clinvar/201570 ^@ NM_198056.2(SCN5A):c.4140_4142delCAA (p.Asn1380del) http://identifiers.org/clinvar/201458 ^@ NM_198056.2(SCN5A):c.1654G>T (p.Gly552Trp) http://identifiers.org/clinvar/200705 ^@ NM_000238.3(KCNH2):c.3105_3112dupGGGCGACG (p.Val1038Glyfs) http://identifiers.org/clinvar/200448 ^@ NM_000238.3(KCNH2):c.2398+57G>T http://identifiers.org/clinvar/200600 ^@ NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) http://identifiers.org/clinvar/200288 ^@ NM_000238.3(KCNH2):c.455C>G (p.Thr152Ser) http://identifiers.org/clinvar/200869 ^@ NM_000218.2(KCNQ1):c.81C>A (p.Ser27Arg) http://identifiers.org/clinvar/200816 ^@ NM_000218.2(KCNQ1):c.587A>C (p.Lys196Thr) http://identifiers.org/clinvar/200999 ^@ NM_130799.2(MEN1):c.1546delC (p.Arg516Glyfs) http://identifiers.org/clinvar/200187 ^@ NM_000138.4(FBN1):c.5015G>A (p.Cys1672Tyr) http://identifiers.org/clinvar/201113 ^@ NM_002474.2(MYH11):c.4177G>C (p.Gly1393Arg) http://identifiers.org/clinvar/201060 ^@ NM_002474.2(MYH11):c.3281C>T (p.Ala1094Val) http://identifiers.org/clinvar/201630 ^@ NM_001103.3(ACTN2):c.620A>G (p.Asp207Gly) http://identifiers.org/clinvar/202075 ^@ NM_001134363.2(RBM20):c.3464T>C (p.Val1155Ala) http://identifiers.org/clinvar/201686 ^@ NM_004281.3(BAG3):c.1267_1276delCTGAAAGTGG (p.Leu423Lysfs) http://identifiers.org/clinvar/201905 ^@ NM_006393.2(NEBL):c.2271G>A (p.Met757Ile) http://identifiers.org/clinvar/201850 ^@ NM_007078.2(LDB3):c.1567C>G (p.Pro523Ala) http://identifiers.org/clinvar/201958 ^@ NM_004572.3(PKP2):c.2300-6T>C http://identifiers.org/clinvar/202017 ^@ NM_004572.3(PKP2):c.1531_1540delTCTAATGACA (p.Ser511Asnfs) http://identifiers.org/clinvar/201796 ^@ NM_020433.4(JPH2):c.572C>G (p.Pro191Arg) http://identifiers.org/clinvar/201740 ^@ NM_004013.2(DMD):c.928G>A (p.Asp310Asn) http://identifiers.org/clinvar/203071 ^@ NM_001256850.1(TTN):c.98507T>C (p.Ile32836Thr) http://identifiers.org/clinvar/203021 ^@ NM_001256850.1(TTN):c.91376T>C (p.Val30459Ala) http://identifiers.org/clinvar/202971 ^@ NM_001256850.1(TTN):c.85990T>C (p.Tyr28664His) http://identifiers.org/clinvar/202921 ^@ NM_001256850.1(TTN):c.78356A>T (p.Asn26119Ile) http://identifiers.org/clinvar/202871 ^@ NM_001256850.1(TTN):c.71855T>A (p.Phe23952Tyr) http://identifiers.org/clinvar/202821 ^@ NM_001256850.1(TTN):c.65083G>A (p.Val21695Ile) http://identifiers.org/clinvar/232299 ^@ NM_000038.5(APC):c.4811C>G (p.Pro1604Arg) http://identifiers.org/clinvar/231699 ^@ NM_000038.5(APC):c.6201T>C (p.Asn2067=) http://identifiers.org/clinvar/231549 ^@ NM_000038.5(APC):c.7471A>G (p.Met2491Val) http://identifiers.org/clinvar/229710 ^@ NM_000038.5(APC):c.8515C>T (p.Leu2839Phe) http://identifiers.org/clinvar/229810 ^@ NM_005732.3(RAD50):c.366-4G>A http://identifiers.org/clinvar/234242 ^@ NM_005732.3(RAD50):c.2129A>G (p.Asp710Gly) http://identifiers.org/clinvar/232399 ^@ NM_005732.3(RAD50):c.3242A>T (p.Tyr1081Phe) http://identifiers.org/clinvar/231999 ^@ NM_000535.6(PMS2):c.2182_2187delACTCTCinsGCTC (p.Thr728Alafs) http://identifiers.org/clinvar/229760 ^@ NM_002485.4(NBN):c.2073C>T (p.Val691=) http://identifiers.org/clinvar/232149 ^@ NM_002485.4(NBN):c.977A>G (p.Gln326Arg) http://identifiers.org/clinvar/230010 ^@ NM_020975.4(RET):c.981G>C (p.Gln327His) http://identifiers.org/clinvar/232049 ^@ NM_004329.2(BMPR1A):c.831C>A (p.Ile277=) http://identifiers.org/clinvar/231949 ^@ NM_000314.6(PTEN):c.585dupT (p.His196Serfs) http://identifiers.org/clinvar/231899 ^@ NM_000314.6(PTEN):c.673T>C (p.Tyr225His) http://identifiers.org/clinvar/231299 ^@ NM_000051.3(ATM):c.157A>C (p.Lys53Gln) http://identifiers.org/clinvar/229910 ^@ NM_000051.3(ATM):c.391T>C (p.Ser131Pro) http://identifiers.org/clinvar/232199 ^@ NM_000051.3(ATM):c.2751C>G (p.Ser917=) http://identifiers.org/clinvar/234192 ^@ NM_000051.3(ATM):c.3030C>T (p.Asn1010=) http://identifiers.org/clinvar/230510 ^@ NM_000051.3(ATM):c.6194T>C (p.Ile2065Thr) http://identifiers.org/clinvar/232449 ^@ NM_000051.3(ATM):c.6367A>G (p.Ser2123Gly) http://identifiers.org/clinvar/234142 ^@ NM_000051.3(ATM):c.7946C>T (p.Ala2649Val) http://identifiers.org/clinvar/231399 ^@ NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) http://identifiers.org/clinvar/230160 ^@ NM_000051.3(ATM):c.8940T>G (p.Leu2980=) http://identifiers.org/clinvar/231449 ^@ NM_005591.3(MRE11):c.1447C>T (p.Arg483Ter) http://identifiers.org/clinvar/230410 ^@ NM_005591.3(MRE11):c.267C>G (p.Val89=) http://identifiers.org/clinvar/232349 ^@ NM_000059.3(BRCA2):c.833G>T (p.Ser278Ile) http://identifiers.org/clinvar/231749 ^@ NM_000548.4(TSC2):c.2180C>T (p.Pro727Leu) http://identifiers.org/clinvar/230460 ^@ NM_024675.3(PALB2):c.2512C>G (p.Gln838Glu) http://identifiers.org/clinvar/230560 ^@ NM_024675.3(PALB2):c.1035A>C (p.Leu345Phe) http://identifiers.org/clinvar/230110 ^@ NM_001042492.2(NF1):c.2550G>T (p.Val850=) http://identifiers.org/clinvar/229660 ^@ NM_001042492.2(NF1):c.5664C>T (p.Ile1888=) http://identifiers.org/clinvar/231349 ^@ NM_007294.3(BRCA1):c.2947delC (p.Leu983Phefs) http://identifiers.org/clinvar/230060 ^@ NM_007294.3(BRCA1):c.2433dupC (p.Lys812Glnfs) http://identifiers.org/clinvar/231599 ^@ NM_007294.3(BRCA1):c.1232_1235delATGTinsCA (p.Asp411Alafs) http://identifiers.org/clinvar/231499 ^@ NM_007294.3(BRCA1):c.1139A>C (p.Gln380Pro) http://identifiers.org/clinvar/232600 ^@ NM_007294.3(BRCA1):c.739A>G (p.Asn247Asp) http://identifiers.org/clinvar/234092 ^@ NM_007294.3(BRCA1):c.98A>C (p.Glu33Ala) http://identifiers.org/clinvar/232249 ^@ NM_032043.2(BRIP1):c.2686A>G (p.Ile896Val) http://identifiers.org/clinvar/229960 ^@ NM_007194.3(CHEK2):c.1197delT (p.Thr401Leufs) http://identifiers.org/clinvar/232099 ^@ NM_007194.3(CHEK2):c.886G>T (p.Asp296Tyr) http://identifiers.org/clinvar/231849 ^@ NM_007194.3(CHEK2):c.520C>G (p.Leu174Val) http://identifiers.org/clinvar/232499 ^@ NM_007194.3(CHEK2):c.517G>A (p.Glu173Lys) http://identifiers.org/clinvar/234930 ^@ NM_003052.4(SLC34A1):c.458G>C (p.Gly153Ala) http://identifiers.org/clinvar/235067 ^@ NM_000366.5(TPM1):c.69G>C (p.Glu23Asp) http://identifiers.org/clinvar/235017 ^@ NC_012920.1:m.4363T>C http://identifiers.org/clinvar/235192 ^@ NM_181336.3(LEMD2):c.38T>G (p.Leu13Arg) http://identifiers.org/clinvar/235256 ^@ NM_000018.3(ACADVL):c.1613G>C (p.Arg538Pro) http://identifiers.org/clinvar/235309 ^@ NM_181503.2(EXOSC8):c.55-12_55-11delAT http://identifiers.org/clinvar/235360 ^@ NM_002180.2(IGHMBP2):c.548-10T>G http://identifiers.org/clinvar/235415 ^@ NM_000044.4(AR):c.1804T>G (p.Cys602Gly) http://identifiers.org/clinvar/235470 ^@ NM_000272.3(NPHP1):c.689C>T (p.Ala230Val) http://identifiers.org/clinvar/235524 ^@ NM_000426.3(LAMA2):c.5909G>C (p.Cys1970Ser) http://identifiers.org/clinvar/235575 ^@ NM_001080517.2(SETD5):c.382A>G (p.Ile128Val) http://identifiers.org/clinvar/242402 ^@ NM_004826.3(ECEL1):c.797_801delATGGGinsGCT (p.Asp266Glyfs) http://identifiers.org/clinvar/240689 ^@ NM_006594.4(AP4B1):c.891T>C (p.Leu297=) http://identifiers.org/clinvar/241039 ^@ NM_015284.3(SZT2):c.8030G>A (p.Arg2677Gln) http://identifiers.org/clinvar/238845 ^@ NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394Asnfs) http://identifiers.org/clinvar/240989 ^@ NM_015120.4(ALMS1):c.2661A>G (p.Lys887=) http://identifiers.org/clinvar/240339 ^@ NM_006206.4(PDGFRA):c.2997G>C (p.Lys999Asn) http://identifiers.org/clinvar/240839 ^@ NM_012073.4(CCT5):c.1086C>G (p.Ile362Met) http://identifiers.org/clinvar/240939 ^@ NM_014855.2(AP5Z1):c.2248C>A (p.Arg750=) http://identifiers.org/clinvar/262777 ^@ NM_153717.2(EVC):c.2505G>A (p.Ser835=) http://identifiers.org/clinvar/257998 ^@ NM_001369.2(DNAH5):c.13126-39G>A http://identifiers.org/clinvar/258048 ^@ NM_001369.2(DNAH5):c.5709+18G>T http://identifiers.org/clinvar/261588 ^@ NM_022455.4(NSD1):c.480C>T (p.Asp160=) http://identifiers.org/clinvar/263027 ^@ NM_182925.4(FLT4):c.1422-10G>A http://identifiers.org/clinvar/260838 ^@ NM_017651.4(AHI1):c.1719C>T (p.Asp573=) http://identifiers.org/clinvar/261138 ^@ NM_019105.6(TNXB):c.4241G>A (p.Arg1414Gln) http://identifiers.org/clinvar/260438 ^@ NM_014780.4(CUL7):c.339C>T (p.Asp113=) http://identifiers.org/clinvar/259988 ^@ NM_006502.2(POLH):c.1783A>G (p.Met595Val) http://identifiers.org/clinvar/258348 ^@ NM_001851.4(COL9A1):c.1666-32G>A http://identifiers.org/clinvar/263077 ^@ NM_183050.3(BCKDHB):c.86C>T (p.Ala29Val) http://identifiers.org/clinvar/258148 ^@ NM_001458.4(FLNC):c.5398+16T>C http://identifiers.org/clinvar/258798 ^@ NM_002769.4(PRSS1):c.200+8T>C http://identifiers.org/clinvar/257898 ^@ NM_001277115.1(DNAH11):c.4576T>C (p.Leu1526=) http://identifiers.org/clinvar/257848 ^@ NM_001277115.1(DNAH11):c.10782G>A (p.Pro3594=) http://identifiers.org/clinvar/263127 ^@ NM_198428.2(BBS9):c.2632+9C>A http://identifiers.org/clinvar/260938 ^@ NM_017802.3(DNAAF5):c.72G>A (p.Ala24=) http://identifiers.org/clinvar/261088 ^@ NM_019098.4(CNGB3):c.354G>T (p.Pro118=) http://identifiers.org/clinvar/254749 ^@ NM_000050.4(ASS1):c.838+38A>G http://identifiers.org/clinvar/262427 ^@ NM_139025.4(ADAMTS13):c.173-18C>T http://identifiers.org/clinvar/261188 ^@ NM_019892.5(INPP5E):c.1159+26C>T http://identifiers.org/clinvar/260688 ^@ NM_016169.3(SUFU):c.1365+19T>C http://identifiers.org/clinvar/261338 ^@ NM_020549.4(CHAT):c.753-26C>T http://identifiers.org/clinvar/259938 ^@ NM_006204.3(PDE6C):c.1098G>A (p.Ala366=) http://identifiers.org/clinvar/260488 ^@ NM_014956.4(CEP164):c.3932C>G (p.Thr1311Ser) http://identifiers.org/clinvar/262677 ^@ NM_152722.4(HEPACAM):c.339G>A (p.Gln113=) http://identifiers.org/clinvar/260788 ^@ NM_016952.4(CDON):c.2545-42A>G http://identifiers.org/clinvar/261238 ^@ NM_020376.3(PNPLA2):c.1458C>T (p.Pro486=) http://identifiers.org/clinvar/258198 ^@ NM_001843.3(CNTN1):c.2824-6T>C http://identifiers.org/clinvar/262577 ^@ NM_145064.2(STAC3):c.842A>G (p.Asn281Ser) http://identifiers.org/clinvar/258248 ^@ NM_001845.5(COL4A1):c.1991-16G>A http://identifiers.org/clinvar/261388 ^@ NM_020937.3(FANCM):c.4905T>C (p.Phe1635=) http://identifiers.org/clinvar/258848 ^@ NM_002863.4(PYGL):c.773-31T>C http://identifiers.org/clinvar/261488 ^@ NM_022067.3(VIPAS39):c.1357-35G>C http://identifiers.org/clinvar/262377 ^@ NM_138477.2(CDAN1):c.443C>T (p.Ala148Val) http://identifiers.org/clinvar/336024 ^@ NM_022436.2(ABCG5):c.*622C>T http://identifiers.org/clinvar/336174 ^@ NM_133259.3(LRPPRC):c.130C>G (p.Arg44Gly) http://identifiers.org/clinvar/333433 ^@ NM_032977.3(CASP10):c.923-12G>T http://identifiers.org/clinvar/335524 ^@ NM_002437.4(MPV17):c.*80C>T http://identifiers.org/clinvar/333583 ^@ NM_020919.3(ALS2):c.4958G>A (p.Arg1653His) http://identifiers.org/clinvar/333633 ^@ NM_001204.6(BMPR2):c.-310A>G http://identifiers.org/clinvar/335674 ^@ NM_001029883.2(C2orf71):c.60G>A (p.Gln20=) http://identifiers.org/clinvar/333733 ^@ NM_012092.3(ICOS):c.150A>G (p.Gln50=) http://identifiers.org/clinvar/336631 ^@ NM_001039348.2(EFEMP1):c.207C>A (p.Leu69=) http://identifiers.org/clinvar/333833 ^@ NM_014929.3(FASTKD2):c.*1520dupG http://identifiers.org/clinvar/336731 ^@ NM_032180.2(FAM161A):c.*41_*43delAGC http://identifiers.org/clinvar/336781 ^@ NM_002056.3(GFPT1):c.*6284G>A http://identifiers.org/clinvar/333533 ^@ NM_001044385.2(TMEM237):c.*3385C>T http://identifiers.org/clinvar/336224 ^@ NM_001430.4(EPAS1):c.-255G>T http://identifiers.org/clinvar/337031 ^@ NM_015120.4(ALMS1):c.10300A>G (p.Thr3434Ala) http://identifiers.org/clinvar/333783 ^@ NM_005006.6(NDUFS1):c.1363A>G (p.Ile455Val) http://identifiers.org/clinvar/336324 ^@ NM_001430.4(EPAS1):c.*1916C>A http://identifiers.org/clinvar/334184 ^@ NM_000384.2(APOB):c.433C>T (p.Pro145Ser) http://identifiers.org/clinvar/337231 ^@ NM_000821.6(GGCX):c.*1186A>G http://identifiers.org/clinvar/337281 ^@ NM_000821.6(GGCX):c.24G>A (p.Ala8=) http://identifiers.org/clinvar/334034 ^@ NM_001875.4(CPS1):c.3874C>T (p.His1292Tyr) http://identifiers.org/clinvar/334235 ^@ NM_173076.2(ABCA12):c.5386T>C (p.Tyr1796His) http://identifiers.org/clinvar/334084 ^@ NM_000384.2(APOB):c.12088-14T>C http://identifiers.org/clinvar/334134 ^@ NM_000384.2(APOB):c.5763A>G (p.Gly1921=) http://identifiers.org/clinvar/337631 ^@ NM_001079.3(ZAP70):c.672C>T (p.Pro224=) http://identifiers.org/clinvar/334285 ^@ NM_014140.3(SMARCAL1):c.-137A>G http://identifiers.org/clinvar/334535 ^@ NM_015311.2(OBSL1):c.557A>G (p.Asp186Gly) http://identifiers.org/clinvar/336831 ^@ NM_002056.3(GFPT1):c.*2510A>T http://identifiers.org/clinvar/342271 ^@ NM_033084.4(FANCD2):c.1546-8T>C http://identifiers.org/clinvar/334385 ^@ NM_025216.2(WNT10A):c.-270G>C http://identifiers.org/clinvar/334435 ^@ NM_002181.3(IHH):c.873G>A (p.Arg291=) http://identifiers.org/clinvar/342421 ^@ NM_000551.3(VHL):c.*823G>A http://identifiers.org/clinvar/334485 ^@ NM_015311.2(OBSL1):c.4067-11G>A http://identifiers.org/clinvar/334635 ^@ NM_003590.4(CUL3):c.304C>A (p.Leu102Ile) http://identifiers.org/clinvar/342721 ^@ NM_020754.3(ARHGAP31):c.*2743C>A http://identifiers.org/clinvar/342771 ^@ NM_001023570.3(IQCB1):c.1595G>A (p.Gly532Glu) http://identifiers.org/clinvar/342921 ^@ NM_015869.4(PPARG):c.288C>T (p.Asp96=) http://identifiers.org/clinvar/343071 ^@ NM_025265.3(TSEN2):c.635A>C (p.Glu212Ala) http://identifiers.org/clinvar/343121 ^@ NM_032638.4(GATA2):c.*508G>A http://identifiers.org/clinvar/342571 ^@ NM_198196.2(CD96):c.*1364G>A http://identifiers.org/clinvar/335624 ^@ NM_001029883.2(C2orf71):c.*599G>A http://identifiers.org/clinvar/343571 ^@ NM_004628.4(XPC):c.1539G>A (p.Met513Ile) http://identifiers.org/clinvar/343671 ^@ NM_031850.3(AGTR1):c.532C>A (p.Leu178Ile) http://identifiers.org/clinvar/342971 ^@ NM_000373.3(UMPS):c.*2202delC http://identifiers.org/clinvar/335924 ^@ NM_000104.3(CYP1B1):c.*1491G>T http://identifiers.org/clinvar/335974 ^@ NM_005633.3(SOS1):c.*3463A>G http://identifiers.org/clinvar/343171 ^@ NM_004637.5(RAB7A):c.*625T>C http://identifiers.org/clinvar/336074 ^@ NM_022437.2(ABCG8):c.1061G>A (p.Arg354His) http://identifiers.org/clinvar/343221 ^@ NM_000174.4(GP9):c.438G>A (p.Pro146=) http://identifiers.org/clinvar/336124 ^@ NM_133259.3(LRPPRC):c.*1387_*1390dupACTG http://identifiers.org/clinvar/357416 ^@ NM_138694.3(PKHD1):c.9544G>A (p.Val3182Ile) http://identifiers.org/clinvar/354626 ^@ NM_000439.4(PCSK1):c.*1041T>A http://identifiers.org/clinvar/354676 ^@ NM_005068.2(SIM1):c.2111A>T (p.Gln704Leu) http://identifiers.org/clinvar/354726 ^@ NM_001491.2(GCNT2):c.*1112G>A http://identifiers.org/clinvar/357766 ^@ NM_018368.3(LMBRD1):c.*125A>G http://identifiers.org/clinvar/357816 ^@ NM_001851.4(COL9A1):c.71C>T (p.Ala24Val) http://identifiers.org/clinvar/357866 ^@ NM_014989.5(RIMS1):c.*44G>A http://identifiers.org/clinvar/357916 ^@ NM_012434.4(SLC17A5):c.*478C>T http://identifiers.org/clinvar/358116 ^@ NM_181714.3(LCA5):c.-553G>C http://identifiers.org/clinvar/355076 ^@ NM_000493.3(COL10A1):c.*511T>C http://identifiers.org/clinvar/355177 ^@ NM_000165.4(GJA1):c.*772_*773dupTT http://identifiers.org/clinvar/355427 ^@ NM_006208.2(ENPP1):c.*3838G>A http://identifiers.org/clinvar/355527 ^@ NM_000288.3(PEX7):c.130+11G>T http://identifiers.org/clinvar/355727 ^@ NM_203395.2(IYD):c.*1941A>G http://identifiers.org/clinvar/355777 ^@ NM_203395.2(IYD):c.*5573A>C http://identifiers.org/clinvar/351929 ^@ NM_054027.4(ANKH):c.-89_-80delGCTCGCCCCGinsTC http://identifiers.org/clinvar/355927 ^@ NM_033071.3(SYNE1):c.3957G>C (p.Glu1319Asp) http://identifiers.org/clinvar/351779 ^@ NM_024577.3(SH3TC2):c.*6873_*6875delACA http://identifiers.org/clinvar/352029 ^@ NM_000112.3(SLC26A2):c.1761C>G (p.Leu587=) http://identifiers.org/clinvar/356277 ^@ NM_001710.5(CFB):c.672C>T (p.Tyr224=) http://identifiers.org/clinvar/359855 ^@ NM_004403.2(DFNA5):c.480G>C (p.Gln160His) http://identifiers.org/clinvar/360105 ^@ NM_133468.4(BMPER):c.857G>T (p.Cys286Phe) http://identifiers.org/clinvar/360155 ^@ NM_000168.5(GLI3):c.*3369C>A http://identifiers.org/clinvar/352687 ^@ NM_001034850.2(RETREG1):c.1013C>T (p.Pro338Leu) http://identifiers.org/clinvar/360405 ^@ NM_014855.2(AP5Z1):c.*2490G>C http://identifiers.org/clinvar/357116 ^@ NM_001024630.3(RUNX2):c.*1549T>A http://identifiers.org/clinvar/352837 ^@ NM_002449.4(MSX2):c.635C>G (p.Ala212Gly) http://identifiers.org/clinvar/357166 ^@ NM_012120.2(CD2AP):c.401T>A (p.Ile134Asn) http://identifiers.org/clinvar/357216 ^@ NM_012120.2(CD2AP):c.*1208C>A http://identifiers.org/clinvar/353087 ^@ NM_014244.4(ADAMTS2):c.3423G>A (p.Glu1141=) http://identifiers.org/clinvar/352937 ^@ NM_022455.4(NSD1):c.*4459G>T http://identifiers.org/clinvar/357266 ^@ NM_000255.3(MUT):c.-155delT http://identifiers.org/clinvar/357316 ^@ NM_003221.3(TFAP2B):c.*1742T>C http://identifiers.org/clinvar/353037 ^@ NM_014244.4(ADAMTS2):c.*2926_*2928delAAC http://identifiers.org/clinvar/357366 ^@ NM_138694.3(PKHD1):c.*2857A>C http://identifiers.org/clinvar/357466 ^@ NM_052872.3(IL17F):c.482A>G (p.His161Arg) http://identifiers.org/clinvar/360955 ^@ NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser) http://identifiers.org/clinvar/361155 ^@ NM_015713.4(RRM2B):c.*1717T>A http://identifiers.org/clinvar/353537 ^@ NM_002310.5(LIFR):c.*5184G>A http://identifiers.org/clinvar/353237 ^@ NM_014324.5(AMACR):c.*1144A>G http://identifiers.org/clinvar/353287 ^@ NM_002185.3(IL7R):c.*1238A>T http://identifiers.org/clinvar/357966 ^@ NM_004415.3(DSP):c.8217G>A (p.Pro2739=) http://identifiers.org/clinvar/358016 ^@ NM_004999.3(MYO6):c.*1522C>T http://identifiers.org/clinvar/353437 ^@ NM_023073.3(C5orf42):c.7331G>A (p.Gly2444Glu) http://identifiers.org/clinvar/358066 ^@ NM_181714.3(LCA5):c.*1680C>A http://identifiers.org/clinvar/353487 ^@ NM_000514.3(GDNF):c.*1785G>T http://identifiers.org/clinvar/306210 ^@ NM_000260.3(MYO7A):c.*504C>T http://identifiers.org/clinvar/361105 ^@ NM_017890.4(VPS13B):c.*378_*381delATTT http://identifiers.org/clinvar/361055 ^@ NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) http://identifiers.org/clinvar/307200 ^@ NM_001082538.2(TCTN1):c.-140A>G http://identifiers.org/clinvar/300596 ^@ NM_004273.4(CHST3):c.*1090G>A http://identifiers.org/clinvar/300696 ^@ NM_016065.3(MRPS16):c.*1074A>C http://identifiers.org/clinvar/300796 ^@ NM_014000.2(VCL):c.2802C>T (p.Ala934=) http://identifiers.org/clinvar/307700 ^@ NM_025215.5(PUS1):c.423C>A (p.Arg141=) http://identifiers.org/clinvar/300996 ^@ NM_007055.3(POLR3A):c.*1825T>G http://identifiers.org/clinvar/307900 ^@ NM_019844.3(SLCO1B3):c.1135+8A>G http://identifiers.org/clinvar/308050 ^@ NM_000719.6(CACNA1C):c.108G>A (p.Ala36=) http://identifiers.org/clinvar/301046 ^@ NM_007055.3(POLR3A):c.3280G>A (p.Asp1094Asn) http://identifiers.org/clinvar/308150 ^@ NM_000719.6(CACNA1C):c.3948C>T (p.Asn1316=) http://identifiers.org/clinvar/366304 ^@ NM_002451.3(MTAP):c.*2968T>C http://identifiers.org/clinvar/310039 ^@ NM_000552.4(VWF):c.7729+8A>G http://identifiers.org/clinvar/366504 ^@ NM_001256054.2(C9orf72):c.*122G>A http://identifiers.org/clinvar/366704 ^@ NM_007126.3(VCP):c.*906A>G http://identifiers.org/clinvar/366354 ^@ NM_003383.4(VLDLR):c.-56C>T http://identifiers.org/clinvar/366754 ^@ NM_032634.3(PIGO):c.3070-12C>G http://identifiers.org/clinvar/366854 ^@ NM_012203.1(GRHPR):c.336C>T (p.Ala112=) http://identifiers.org/clinvar/366904 ^@ NM_001042413.1(GLIS3):c.*2914G>T http://identifiers.org/clinvar/366454 ^@ NM_000459.4(TEK):c.3201-4G>A http://identifiers.org/clinvar/366954 ^@ NM_001042413.1(GLIS3):c.2323C>T (p.His775Tyr) http://identifiers.org/clinvar/367004 ^@ NM_203447.3(DOCK8):c.4497G>A (p.Glu1499=) http://identifiers.org/clinvar/367054 ^@ NM_004170.5(SLC1A1):c.1193+11G>A http://identifiers.org/clinvar/312733 ^@ NM_000270.3(PNP):c.620G>A (p.Arg207His) http://identifiers.org/clinvar/314472 ^@ NM_052873.2(IFT43):c.*28G>A http://identifiers.org/clinvar/314622 ^@ NM_004863.3(SPTLC2):c.*2702G>A http://identifiers.org/clinvar/312983 ^@ NM_000359.2(TGM1):c.838G>A (p.Glu280Lys) http://identifiers.org/clinvar/314722 ^@ NM_000369.2(TSHR):c.*1695T>C http://identifiers.org/clinvar/314772 ^@ NM_018418.4(SPATA7):c.-111G>A http://identifiers.org/clinvar/314872 ^@ NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=) http://identifiers.org/clinvar/313183 ^@ NM_006194.3(PAX9):c.*818C>T http://identifiers.org/clinvar/313233 ^@ NM_020937.3(FANCM):c.*254dupG http://identifiers.org/clinvar/315272 ^@ NM_139057.3(ADAMTS17):c.2067C>T (p.Cys689=) http://identifiers.org/clinvar/313533 ^@ NM_182914.2(SYNE2):c.7643+9A>G http://identifiers.org/clinvar/323057 ^@ NM_001254.3(CDC6):c.845T>C (p.Val282Ala) http://identifiers.org/clinvar/323157 ^@ NM_002230.2(JUP):c.*286C>T http://identifiers.org/clinvar/323307 ^@ NM_000263.3(NAGLU):c.*198delT http://identifiers.org/clinvar/323657 ^@ NM_005910.5(MAPT):c.*334A>G http://identifiers.org/clinvar/323907 ^@ NM_018129.3(PNPO):c.-115G>A http://identifiers.org/clinvar/323957 ^@ NM_000080.3(CHRNE):c.*744_*745insA http://identifiers.org/clinvar/368172 ^@ NM_000444.5(PHEX):c.*48G>A http://identifiers.org/clinvar/368272 ^@ NM_022567.2(NYX):c.1253C>G (p.Ser418Cys) http://identifiers.org/clinvar/324007 ^@ NM_005220.2(DLX3):c.*1205A>C http://identifiers.org/clinvar/324107 ^@ NM_000088.3(COL1A1):c.2613+14G>A http://identifiers.org/clinvar/314422 ^@ NM_017791.2(FLVCR2):c.*155C>T http://identifiers.org/clinvar/314522 ^@ NM_013382.5(POMT2):c.*1610T>C http://identifiers.org/clinvar/368672 ^@ NM_001109878.1(TBX22):c.*6C>A http://identifiers.org/clinvar/314922 ^@ NM_004239.4(TRIP11):c.*163C>T http://identifiers.org/clinvar/315022 ^@ NM_000295.4(SERPINA1):c.*1C>T http://identifiers.org/clinvar/315422 ^@ NM_144599.4(NIPA1):c.801G>T (p.Val267=) http://identifiers.org/clinvar/315372 ^@ NM_144599.4(NIPA1):c.*2727dupA http://identifiers.org/clinvar/325756 ^@ NM_017950.3(CCDC40):c.*202T>C http://identifiers.org/clinvar/317972 ^@ NM_001287.5(CLCN7):c.-32G>A http://identifiers.org/clinvar/318124 ^@ NM_001143979.1(NDE1):c.*481T>A http://identifiers.org/clinvar/372077 ^@ NM_058195.3(CDKN2A):c.-33G>A http://identifiers.org/clinvar/371877 ^@ NM_000314.6(PTEN):c.210-17T>C http://identifiers.org/clinvar/371927 ^@ NM_006231.3(POLE):c.4952+20_4952+22delTGT http://identifiers.org/clinvar/372027 ^@ NM_024675.3(PALB2):c.1684+10G>T http://identifiers.org/clinvar/371977 ^@ NM_002878.3(RAD51D):c.739-10T>C http://identifiers.org/clinvar/372127 ^@ DSP, LEU622PRO http://identifiers.org/clinvar/372201 ^@ NM_001079515.2(TBCE):c.464T>A (p.Ile155Asn) http://identifiers.org/clinvar/372260 ^@ NM_032793.4(MFSD2A):c.476C>T (p.Thr159Met) http://identifiers.org/clinvar/373322 ^@ NM_021007.2(SCN2A):c.1351G>A (p.Glu451Lys) http://identifiers.org/clinvar/373272 ^@ NM_001034850.2(RETREG1):c.1226T>C (p.Met409Thr) http://identifiers.org/clinvar/373722 ^@ NM_001184742.1(ZBTB33):c.37C>G (p.Gln13Glu) http://identifiers.org/clinvar/373772 ^@ NM_000044.4(AR):c.1616+3A>C http://identifiers.org/clinvar/373822 ^@ NM_000059.3(BRCA2):c.6014_6017delATAG (p.Asp2005Valfs) http://identifiers.org/clinvar/373872 ^@ NG_012772.3:g.(?_5001)_(88292_?)del http://identifiers.org/clinvar/374025 ^@ NM_004380.2(CREBBP):c.3698G>A (p.Arg1233Lys) http://identifiers.org/clinvar/374075 ^@ NM_005360.4(MAF):c.188C>G (p.Pro63Arg) http://identifiers.org/clinvar/374175 ^@ NM_004278.3(PIGL):c.176C>A (p.Pro59His) http://identifiers.org/clinvar/374125 ^@ NM_000151.3(G6PC):c.551G>T (p.Gly184Val) http://identifiers.org/clinvar/373925 ^@ NM_172107.3(KCNQ2):c.1067T>G (p.Leu356Arg) http://identifiers.org/clinvar/373975 ^@ NM_001129765.1(NSDHL):c.1054C>G (p.Leu352Val) http://identifiers.org/clinvar/374229 ^@ NM_001282531.2(ADNP):c.673C>T (p.Arg225Ter) http://identifiers.org/clinvar/374349 ^@ NM_015311.2(OBSL1):c.2474delT (p.Val825Alafs) http://identifiers.org/clinvar/374299 ^@ NC_000019.9:g.(?_44015589)_(44015719_?)del http://identifiers.org/clinvar/374417 ^@ NM_003282.3(TNNI2):c.378_389delGCTGGGCTCGAA (p.Leu127_Lys130del) http://identifiers.org/clinvar/374467 ^@ NM_015284.3(SZT2):c.74G>A (p.Arg25Gln) http://identifiers.org/clinvar/374517 ^@ NM_000158.3(GBE1):c.760A>G (p.Thr254Ala) http://identifiers.org/clinvar/374567 ^@ NM_000445.4(PLEC):c.5110G>A (p.Gly1704Ser) http://identifiers.org/clinvar/374617 ^@ NM_000260.3(MYO7A):c.6203T>G (p.Leu2068Arg) http://identifiers.org/clinvar/374667 ^@ NM_001845.5(COL4A1):c.1270C>A (p.Gln424Lys) http://identifiers.org/clinvar/374717 ^@ NM_000487.5(ARSA):c.325G>A (p.Val109Met) http://identifiers.org/clinvar/374767 ^@ NM_001134363.2(RBM20):c.3424G>A (p.Val1142Met) http://identifiers.org/clinvar/374827 ^@ NM_000142.4(FGFR3):c.1480A>G (p.Ile494Val) http://identifiers.org/clinvar/374877 ^@ NM_014727.2(KMT2B):c.7549C>T (p.Arg2517Trp) http://identifiers.org/clinvar/374944 ^@ NM_000069.2(CACNA1S):c.526G>T (p.Val176Leu) http://identifiers.org/clinvar/375214 ^@ NM_003165.3(STXBP1):c.902+1G>A http://identifiers.org/clinvar/375275 ^@ NM_152710.3(TBATA):c.157C>T (p.Arg53Cys) http://identifiers.org/clinvar/375329 ^@ NM_020247.4(COQ8A):c.1136T>A (p.Leu379Ter) http://identifiers.org/clinvar/383883 ^@ NM_001135659.2(NRXN1):c.3485-110016C>T http://identifiers.org/clinvar/386023 ^@ NM_014929.3(FASTKD2):c.-57C>T http://identifiers.org/clinvar/391551 ^@ NM_015120.4(ALMS1):c.2439A>G (p.Ser813=) http://identifiers.org/clinvar/388712 ^@ NM_000465.3(BARD1):c.2094T>G (p.Gly698=) http://identifiers.org/clinvar/391201 ^@ NM_000249.3(MLH1):c.116+12G>A http://identifiers.org/clinvar/391001 ^@ NM_005051.2(QARS):c.452-10A>G http://identifiers.org/clinvar/391851 ^@ NM_015141.3(GPD1L):c.-47C>G http://identifiers.org/clinvar/385573 ^@ NM_001148.4(ANK2):c.4287A>C (p.Ser1429=) http://identifiers.org/clinvar/383031 ^@ NM_017875.2(SLC25A38):c.196A>G (p.Arg66Gly) http://identifiers.org/clinvar/382681 ^@ NM_005051.2(QARS):c.1671G>T (p.Val557=) http://identifiers.org/clinvar/386823 ^@ NM_147127.4(EVC2):c.3288A>G (p.Gln1096=) http://identifiers.org/clinvar/386423 ^@ NM_000038.5(APC):c.730-19G>A http://identifiers.org/clinvar/388612 ^@ NM_015120.4(ALMS1):c.10465G>C (p.Val3489Leu) http://identifiers.org/clinvar/387123 ^@ NM_000038.5(APC):c.5922C>T (p.Asp1974=) http://identifiers.org/clinvar/387223 ^@ NM_002397.4(MEF2C):c.72G>A (p.Arg24=) http://identifiers.org/clinvar/384684 ^@ NM_013352.3(DSE):c.74C>T (p.Thr25Ile) http://identifiers.org/clinvar/391251 ^@ NM_004100.4(EYA4):c.1537C>T (p.Gln513Ter) http://identifiers.org/clinvar/386673 ^@ NM_005670.3(EPM2A):c.-3G>A http://identifiers.org/clinvar/386573 ^@ NM_033071.3(SYNE1):c.6403-11T>C http://identifiers.org/clinvar/388562 ^@ NM_000249.3(MLH1):c.*4T>C http://identifiers.org/clinvar/382931 ^@ NM_018341.2(ERMARD):c.192C>T (p.Tyr64=) http://identifiers.org/clinvar/380788 ^@ NM_018341.2(ERMARD):c.1617C>T (p.Ile539=) http://identifiers.org/clinvar/391301 ^@ NM_005051.2(QARS):c.1863+10G>C http://identifiers.org/clinvar/390801 ^@ NM_004656.3(BAP1):c.659+18G>T http://identifiers.org/clinvar/384083 ^@ NM_002667.4(PLN):c.-40C>T http://identifiers.org/clinvar/392790 ^@ NM_006772.2(SYNGAP1):c.509+5A>C http://identifiers.org/clinvar/383532 ^@ NM_020732.3(ARID1B):c.2699C>T (p.Pro900Leu) http://identifiers.org/clinvar/389162 ^@ NM_006567.4(FARS2):c.646C>T (p.Gln216Ter) http://identifiers.org/clinvar/382480 ^@ NM_006348.3(COG5):c.1843-14T>G http://identifiers.org/clinvar/391651 ^@ NM_000441.1(SLC26A4):c.2206C>T (p.Gln736Ter) http://identifiers.org/clinvar/383131 ^@ NM_001458.4(FLNC):c.4737+15A>G http://identifiers.org/clinvar/383081 ^@ NM_000168.5(GLI3):c.2006C>T (p.Thr669Ile) http://identifiers.org/clinvar/391951 ^@ NM_001182.4(ALDH7A1):c.650+15C>G http://identifiers.org/clinvar/389112 ^@ NM_001458.4(FLNC):c.8013C>T (p.Gly2671=) http://identifiers.org/clinvar/384333 ^@ NM_020632.2(ATP6V0A4):c.1231G>T (p.Asp411Tyr) http://identifiers.org/clinvar/382631 ^@ NM_003640.4(IKBKAP):c.2204+18G>C http://identifiers.org/clinvar/383733 ^@ NM_133436.3(ASNS):c.146G>A (p.Arg49Gln) http://identifiers.org/clinvar/381139 ^@ NM_001130438.2(SPTAN1):c.2796C>T (p.His932=) http://identifiers.org/clinvar/390851 ^@ NM_023073.3(C5orf42):c.8439C>G (p.Ser2813=) http://identifiers.org/clinvar/388912 ^@ NM_001130438.2(SPTAN1):c.6959+5C>G http://identifiers.org/clinvar/380939 ^@ NM_033071.3(SYNE1):c.10166+18C>G http://identifiers.org/clinvar/379535 ^@ NM_000441.1(SLC26A4):c.2100A>G (p.Ile700Met) http://identifiers.org/clinvar/380838 ^@ NM_002291.2(LAMB1):c.1776T>G (p.Pro592=) http://identifiers.org/clinvar/133065 ^@ NM_000540.2(RYR1):c.1441-24T>C http://identifiers.org/clinvar/133115 ^@ NM_000540.2(RYR1):c.2361-68C>T http://identifiers.org/clinvar/133165 ^@ NM_000540.2(RYR1):c.6628G>T (p.Val2210Phe) http://identifiers.org/clinvar/133215 ^@ NM_000540.2(RYR1):c.7888G>C (p.Val2630Leu) http://identifiers.org/clinvar/133291 ^@ NM_021008.3(DEAF1):c.683T>G (p.Ile228Ser) http://identifiers.org/clinvar/133357 ^@ NM_017617.4(NOTCH1):c.5167+208C>T http://identifiers.org/clinvar/133407 ^@ NM_003820.3(TNFRSF14):c.305-308C>T http://identifiers.org/clinvar/133457 ^@ NM_004304.4(ALK):c.106C>T (p.Pro36Ser) http://identifiers.org/clinvar/133508 ^@ NM_000038.5(APC):c.2123A>G (p.Lys708Arg) http://identifiers.org/clinvar/133558 ^@ NM_152641.3(ARID2):c.1472C>G (p.Thr491Ser) http://identifiers.org/clinvar/133608 ^@ NM_000051.3(ATM):c.2449G>C (p.Asp817His) http://identifiers.org/clinvar/133658 ^@ NM_000489.4(ATRX):c.2761G>T (p.Val921Phe) http://identifiers.org/clinvar/133708 ^@ NM_000057.3(BLM):c.419A>G (p.Glu140Gly) http://identifiers.org/clinvar/133762 ^@ NM_032043.2(BRIP1):c.932delA (p.Tyr311Phefs) http://identifiers.org/clinvar/133812 ^@ NM_005188.3(CBL):c.2530A>C (p.Ser844Arg) http://identifiers.org/clinvar/133862 ^@ NM_015083.2(CDK12):c.4388A>G (p.Tyr1463Cys) http://identifiers.org/clinvar/133912 ^@ NM_015125.4(CIC):c.3602G>A (p.Gly1201Asp) http://identifiers.org/clinvar/133962 ^@ NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) http://identifiers.org/clinvar/134012 ^@ NM_001077706.2(ECT2L):c.839A>G (p.Asp280Gly) http://identifiers.org/clinvar/134315 ^@ NM_001018115.2(FANCD2):c.2141C>T (p.Pro714Leu) http://identifiers.org/clinvar/134366 ^@ NM_004629.1(FANCG):c.640C>T (p.Arg214Cys) http://identifiers.org/clinvar/134416 ^@ NM_000143.3(FH):c.1013T>C (p.Ile338Thr) http://identifiers.org/clinvar/135611 ^@ NM_002136.3(HNRNPA1):c.940T>C (p.Tyr314His) http://identifiers.org/clinvar/135682 ^@ NM_000038.5(APC):c.1203G>T (p.Arg401Ser) http://identifiers.org/clinvar/135733 ^@ NM_000051.3(ATM):c.146C>T (p.Ser49Phe) http://identifiers.org/clinvar/135786 ^@ NM_000051.3(ATM):c.8861_8863delATG (p.Asp2955del) http://identifiers.org/clinvar/135842 ^@ NM_000179.2(MSH6):c.3649A>G (p.Arg1217Gly) http://identifiers.org/clinvar/135892 ^@ NM_000264.3(PTCH1):c.3531C>T (p.Phe1177=) http://identifiers.org/clinvar/135942 ^@ NM_000535.6(PMS2):c.21G>C (p.Ser7=) http://identifiers.org/clinvar/135994 ^@ NM_001166110.1(PALLD):c.103G>C (p.Ala35Pro) http://identifiers.org/clinvar/136095 ^@ NM_020975.4(RET):c.1158G>A (p.Ala386=) http://identifiers.org/clinvar/136145 ^@ NM_032043.2(BRIP1):c.1731G>A (p.Lys577=) http://identifiers.org/clinvar/136205 ^@ NM_130838.1(UBE3A):c.710T>C (p.Leu237Pro) http://identifiers.org/clinvar/136256 ^@ NM_014049.4(ACAD9):c.1683C>T (p.His561=) http://identifiers.org/clinvar/136307 ^@ NM_000026.3(ADSL):c.216C>T (p.Ile72=) http://identifiers.org/clinvar/136358 ^@ NM_000032.4(ALAS2):c.282A>G (p.Glu94=) http://identifiers.org/clinvar/187149 ^@ NM_002878.3(RAD51D):c.434G>A (p.Arg145His) http://identifiers.org/clinvar/184408 ^@ NM_007294.3(BRCA1):c.4131C>T (p.Ser1377=) http://identifiers.org/clinvar/186497 ^@ NM_007294.3(BRCA1):c.4099G>T (p.Glu1367Ter) http://identifiers.org/clinvar/184458 ^@ NM_007294.3(BRCA1):c.4071A>G (p.Glu1357=) http://identifiers.org/clinvar/186699 ^@ NM_007294.3(BRCA1):c.3347T>G (p.Val1116Gly) http://identifiers.org/clinvar/186397 ^@ NM_007294.3(BRCA1):c.2407_2408delAG (p.Gln804Valfs) http://identifiers.org/clinvar/186047 ^@ NM_007294.3(BRCA1):c.255G>A (p.Glu85=) http://identifiers.org/clinvar/184008 ^@ NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) http://identifiers.org/clinvar/184958 ^@ NM_032043.2(BRIP1):c.1040T>C (p.Leu347Pro) http://identifiers.org/clinvar/186147 ^@ NM_032043.2(BRIP1):c.379+4_379+5delAT http://identifiers.org/clinvar/184508 ^@ NM_000455.4(STK11):c.627C>T (p.Thr209=) http://identifiers.org/clinvar/186548 ^@ NM_007194.3(CHEK2):c.1222_1237del16 (p.Val408Terfs) http://identifiers.org/clinvar/188691 ^@ NM_001001430.2(TNNT2):c.821+22C>T http://identifiers.org/clinvar/188591 ^@ NM_000256.3(MYBPC3):c.3803T>C (p.Leu1268Pro) http://identifiers.org/clinvar/188641 ^@ NM_000257.3(MYH7):c.5139G>A (p.Val1713=) http://identifiers.org/clinvar/188892 ^@ NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) http://identifiers.org/clinvar/188791 ^@ NM_005562.2(LAMC2):c.667C>T (p.Arg223Ter) http://identifiers.org/clinvar/189143 ^@ NM_138694.3(PKHD1):c.7916C>A (p.Ser2639Ter) http://identifiers.org/clinvar/189043 ^@ NM_000466.2(PEX1):c.2916delA (p.Gly973Alafs) http://identifiers.org/clinvar/188942 ^@ NM_001360.2(DHCR7):c.1426T>C (p.Ter476Gln) http://identifiers.org/clinvar/188992 ^@ NM_024685.3(BBS10):c.1599_1602delAACT (p.Thr534Ilefs) http://identifiers.org/clinvar/189193 ^@ NM_000053.3(ATP7B):c.314C>A (p.Ser105Ter) http://identifiers.org/clinvar/188741 ^@ NM_004937.2(CTNS):c.292dupA (p.Thr98Asnfs) http://identifiers.org/clinvar/188841 ^@ NM_000152.4(GAA):c.1051delG (p.Val351Cysfs) http://identifiers.org/clinvar/189093 ^@ NM_000017.3(ACADS):c.682_683delGA (p.Glu228Argfs) http://identifiers.org/clinvar/242609 ^@ NM_004168.3(SDHA):c.328G>C (p.Ala110Pro) http://identifiers.org/clinvar/227288 ^@ NM_015404.3(WHRN):c.1824G>A (p.Gln608=) http://identifiers.org/clinvar/227187 ^@ NM_004281.3(BAG3):c.705G>A (p.Ala235=) http://identifiers.org/clinvar/227668 ^@ NM_017433.4(MYO3A):c.3842T>G (p.Phe1281Cys) http://identifiers.org/clinvar/227718 ^@ NM_032578.3(MYPN):c.2880T>G (p.Ser960=) http://identifiers.org/clinvar/227237 ^@ NM_022124.5(CDH23):c.6927C>T (p.Ala2309=) http://identifiers.org/clinvar/229308 ^@ NM_005422.2(TECTA):c.721G>A (p.Val241Ile) http://identifiers.org/clinvar/227768 ^@ NM_001277269.1(OTOG):c.2434G>A (p.Asp812Asn) http://identifiers.org/clinvar/226886 ^@ NM_001277269.1(OTOG):c.3444+15C>T http://identifiers.org/clinvar/227568 ^@ NM_000256.3(MYBPC3):c.3477T>C (p.Phe1159=) http://identifiers.org/clinvar/226986 ^@ NM_012226.4(P2RX2):c.420-13G>A http://identifiers.org/clinvar/228858 ^@ NM_198080.3(MSRB3):c.82G>C (p.Gly28Arg) http://identifiers.org/clinvar/227818 ^@ NM_173591.3(OTOGL):c.2993T>C (p.Val998Ala) http://identifiers.org/clinvar/226936 ^@ NM_173591.3(OTOGL):c.3042A>G (p.Gln1014=) http://identifiers.org/clinvar/226786 ^@ NM_016239.3(MYO15A):c.3999C>T (p.Ala1333=) http://identifiers.org/clinvar/229608 ^@ NM_173477.4(USH1G):c.43G>C (p.Glu15Gln) http://identifiers.org/clinvar/227338 ^@ NM_001943.4(DSG2):c.2127T>C (p.His709=) http://identifiers.org/clinvar/226836 ^@ NM_003803.3(MYOM1):c.91C>A (p.Arg31=) http://identifiers.org/clinvar/227087 ^@ NM_001039876.2(SYNE4):c.543G>A (p.Arg181=) http://identifiers.org/clinvar/227538 ^@ NM_030662.3(MAP2K2):c.174C>T (p.Leu58=) http://identifiers.org/clinvar/227618 ^@ NM_002473.5(MYH9):c.615C>T (p.Gly205=) http://identifiers.org/clinvar/229358 ^@ NM_001039141.2(TRIOBP):c.5266C>T (p.Arg1756Trp) http://identifiers.org/clinvar/227137 ^@ NM_144991.2(TSPEAR):c.534G>A (p.Pro178=) http://identifiers.org/clinvar/234877 ^@ NM_001012331.1(NTRK1):c.1643G>A (p.Arg548Gln) http://identifiers.org/clinvar/234576 ^@ NM_004895.4(NLRP3):c.298C>T (p.Arg100Cys) http://identifiers.org/clinvar/234302 ^@ NM_004895.4(NLRP3):c.1845A>T (p.Lys615Asn) http://identifiers.org/clinvar/234474 ^@ NM_004895.4(NLRP3):c.2398C>A (p.Leu800Met) http://identifiers.org/clinvar/234826 ^@ NM_002977.3(SCN9A):c.3289A>G (p.Ser1097Gly) http://identifiers.org/clinvar/234626 ^@ NM_000179.2(MSH6):c.4016_4017dupCT (p.Ser1340Leufs) http://identifiers.org/clinvar/234424 ^@ NM_198056.2(SCN5A):c.4927A>C (p.Ile1643Leu) http://identifiers.org/clinvar/234776 ^@ NM_001999.3(FBN2):c.2878G>A (p.Glu960Lys) http://identifiers.org/clinvar/234676 ^@ NM_006158.4(NEFL):c.487G>C (p.Glu163Gln) http://identifiers.org/clinvar/231649 ^@ NM_000314.6(PTEN):c.17_18delAA (p.Lys6Argfs) http://identifiers.org/clinvar/234726 ^@ NM_000059.3(BRCA2):c.5014T>C (p.Tyr1672His) http://identifiers.org/clinvar/234525 ^@ NM_000059.3(BRCA2):c.6304G>A (p.Val2102Ile) http://identifiers.org/clinvar/234354 ^@ NM_000243.2(MEFV):c.427_442dup16 (p.Glu148Alafs) http://identifiers.org/clinvar/230210 ^@ NM_000251.2(MSH2):c.-68-194G>T http://identifiers.org/clinvar/230360 ^@ NM_000251.2(MSH2):c.-68-33G>C http://identifiers.org/clinvar/232549 ^@ NM_000251.2(MSH2):c.2718A>G (p.Ile906Met) http://identifiers.org/clinvar/231799 ^@ NM_000179.2(MSH6):c.328G>A (p.Val110Ile) http://identifiers.org/clinvar/230260 ^@ NM_000179.2(MSH6):c.1900T>C (p.Leu634=) http://identifiers.org/clinvar/230310 ^@ NM_000179.2(MSH6):c.4004_4007dupAAGT (p.Cys1337Serfs) http://identifiers.org/clinvar/229860 ^@ NM_000551.3(VHL):c.250G>C (p.Val84Leu) http://identifiers.org/clinvar/230610 ^@ NM_000038.5(APC):c.3146G>A (p.Trp1049Ter) http://identifiers.org/clinvar/264591 ^@ NM_017636.3(TRPM4):c.1119C>A (p.Phe373Leu) http://identifiers.org/clinvar/263382 ^@ NM_003098.2(SNTA1):c.567A>C (p.Ser189=) http://identifiers.org/clinvar/264491 ^@ NM_001456.3(FLNA):c.4208T>G (p.Met1403Arg) http://identifiers.org/clinvar/264641 ^@ NM_176787.4(PIGN):c.694A>T (p.Lys232Ter) http://identifiers.org/clinvar/264705 ^@ NM_145331.2(MAP3K7):c.721T>A (p.Trp241Arg) http://identifiers.org/clinvar/264756 ^@ NM_001242896.1(DEPDC5):c.1355C>T (p.Ala452Val) http://identifiers.org/clinvar/264911 ^@ NM_000059.3(BRCA2):c.316+314_316+318del http://identifiers.org/clinvar/264961 ^@ NM_000059.3(BRCA2):c.1909+389C>T http://identifiers.org/clinvar/264861 ^@ NM_000059.3(BRCA2):c.8331+3351del http://identifiers.org/clinvar/264811 ^@ NM_007294.3(BRCA1):c.135-563C>T http://identifiers.org/clinvar/265066 ^@ NM_000721.3(CACNA1E):c.1054G>A (p.Gly352Arg) http://identifiers.org/clinvar/265013 ^@ NM_000350.2(ABCA4):c.2353C>T (p.Arg785Cys) http://identifiers.org/clinvar/265271 ^@ NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) http://identifiers.org/clinvar/265166 ^@ NM_021911.2(GABRB2):c.909G>T (p.Lys303Asn) http://identifiers.org/clinvar/265218 ^@ NM_000424.3(KRT5):c.555+1G>A http://identifiers.org/clinvar/265572 ^@ NM_024675.3(PALB2):c.3295_3301delACGACTC (p.Thr1099Serfs) http://identifiers.org/clinvar/265622 ^@ NM_007294.3(BRCA1):c.5569delC (p.Gln1857Argfs) http://identifiers.org/clinvar/265116 ^@ NM_004247.3(EFTUD2):c.2698_2701delGTCT (p.Val900Serfs) http://identifiers.org/clinvar/265672 ^@ NM_001193416.2(DDX3X):c.635C>A (p.Pro212His) http://identifiers.org/clinvar/265754 ^@ NM_024818.4(UBA5):c.503G>A (p.Gly168Glu) http://identifiers.org/clinvar/265859 ^@ NM_000451.3(SHOX):c.*41C>A http://identifiers.org/clinvar/266732 ^@ NM_000059.3(BRCA2):c.2990T>G (p.Leu997Ter) http://identifiers.org/clinvar/266782 ^@ NM_000059.3(BRCA2):c.3957_3958delTG (p.Asn1319Lysfs) http://identifiers.org/clinvar/266832 ^@ NM_000059.3(BRCA2):c.4783C>T (p.Gln1595Ter) http://identifiers.org/clinvar/266882 ^@ NM_000059.3(BRCA2):c.5580_5583delAAAA (p.Lys1861Terfs) http://identifiers.org/clinvar/266932 ^@ NM_000059.3(BRCA2):c.6246delA (p.Glu2082Aspfs) http://identifiers.org/clinvar/266982 ^@ NM_000059.3(BRCA2):c.7024_7044del21insTG (p.Gln2342Cysfs) http://identifiers.org/clinvar/267032 ^@ NM_000059.3(BRCA2):c.7708A>T (p.Lys2570Ter) http://identifiers.org/clinvar/267082 ^@ NM_000059.3(BRCA2):c.8395A>T (p.Arg2799Ter) http://identifiers.org/clinvar/267132 ^@ NM_000059.3(BRCA2):c.9034dupG (p.Ala3012Glyfs) http://identifiers.org/clinvar/267193 ^@ NC_000011.8:g.31779000_31933000del154001 http://identifiers.org/clinvar/267252 ^@ NM_015247.2(CYLD):c.2390_2391delAT (p.Tyr797Terfs) http://identifiers.org/clinvar/267329 ^@ NC_000016.10:g.(?_15708805)_(15838258_?)dup http://identifiers.org/clinvar/267401 ^@ c.2284_2285delCT http://identifiers.org/clinvar/267483 ^@ NC_000016.9:g.(?_89475451)_(89652148_?)del http://identifiers.org/clinvar/267743 ^@ NM_181833.2(NF2):c.447+19449_447+25070del http://identifiers.org/clinvar/267639 ^@ NM_000059.3(BRCA2):c.317-?_425+?dup http://identifiers.org/clinvar/267689 ^@ NM_000059.3(BRCA2):c.7976+2C>A http://identifiers.org/clinvar/267589 ^@ NM_007294.3(BRCA1):c.5278-?_5332+?del http://identifiers.org/clinvar/267539 ^@ NM_007294.3(BRCA1):c.442-?_4185+?del http://identifiers.org/clinvar/267818 ^@ 46;X;t(Y;3)(p11.2;p12.3)dn http://identifiers.org/clinvar/267869 ^@ 46;XX;t(6;13)(q21;q32)dn http://identifiers.org/clinvar/267919 ^@ 46;XY;t(6;11)(p12.2;p13)dn http://identifiers.org/clinvar/267969 ^@ 46;X;inv(X)(p11.21p11.23) http://identifiers.org/clinvar/268019 ^@ 46;XY;t(1;4)(q32;q11) http://identifiers.org/clinvar/268072 ^@ NC_000011.9:g.(?_86561752)_(86786833_?)del http://identifiers.org/clinvar/292190 ^@ NM_005957.4(MTHFR):c.*2653C>T http://identifiers.org/clinvar/292290 ^@ NM_000302.3(PLOD1):c.975+13C>T http://identifiers.org/clinvar/292390 ^@ NM_014874.3(MFN2):c.*777T>C http://identifiers.org/clinvar/292090 ^@ NM_138959.2(VANGL1):c.*5447_*5448delTC http://identifiers.org/clinvar/292240 ^@ NM_005957.4(MTHFR):c.870C>T (p.Asn290=) http://identifiers.org/clinvar/292340 ^@ NM_005518.3(HMGCS2):c.174C>T (p.Ala58=) http://identifiers.org/clinvar/292140 ^@ NM_001232.3(CASQ2):c.-212_-211insATGTGT http://identifiers.org/clinvar/293329 ^@ NM_003001.3(SDHC):c.*518G>A http://identifiers.org/clinvar/293229 ^@ NM_002857.3(PEX19):c.433-11G>T http://identifiers.org/clinvar/293579 ^@ NM_000130.4(F5):c.5589C>A (p.Pro1863=) http://identifiers.org/clinvar/293779 ^@ NM_022089.3(ATP13A2):c.2407G>A (p.Val803Ile) http://identifiers.org/clinvar/293529 ^@ NM_006996.2(SLC19A2):c.487A>T (p.Ser163Cys) http://identifiers.org/clinvar/293829 ^@ NM_018122.4(DARS2):c.1804A>G (p.Ile602Val) http://identifiers.org/clinvar/293079 ^@ NM_002241.4(KCNJ10):c.*2827C>T http://identifiers.org/clinvar/294029 ^@ NM_005562.2(LAMC2):c.*400T>C http://identifiers.org/clinvar/293129 ^@ NM_000702.3(ATP1A2):c.627T>C (p.Cys209=) http://identifiers.org/clinvar/293879 ^@ NM_033343.3(LHX4):c.*286G>C http://identifiers.org/clinvar/293179 ^@ NM_000702.3(ATP1A2):c.*1629T>C http://identifiers.org/clinvar/294079 ^@ NM_000433.3(NCF2):c.1247A>G (p.Gln416Arg) http://identifiers.org/clinvar/293279 ^@ NM_004550.4(NDUFS2):c.1212+7A>G http://identifiers.org/clinvar/294179 ^@ NM_031935.2(HMCN1):c.7017A>G (p.Val2339=) http://identifiers.org/clinvar/294229 ^@ NM_031935.2(HMCN1):c.11423C>T (p.Pro3808Leu) http://identifiers.org/clinvar/293379 ^@ NM_006182.2(DDR2):c.1508G>C (p.Cys503Ser) http://identifiers.org/clinvar/293629 ^@ NM_000130.4(F5):c.1391C>T (p.Thr464Ile) http://identifiers.org/clinvar/294729 ^@ NM_000069.2(CACNA1S):c.3628G>A (p.Gly1210Arg) http://identifiers.org/clinvar/293679 ^@ NM_152281.2(GORAB):c.*1064T>A http://identifiers.org/clinvar/294929 ^@ NM_003465.2(CHIT1):c.422A>C (p.Tyr141Ser) http://identifiers.org/clinvar/293729 ^@ NM_000639.2(FASLG):c.147G>A (p.Pro49=) http://identifiers.org/clinvar/293979 ^@ NM_005562.2(LAMC2):c.-89A>G http://identifiers.org/clinvar/343321 ^@ NM_014382.3(ATP2C1):c.532-6C>T http://identifiers.org/clinvar/343471 ^@ NM_000532.4(PCCB):c.865C>T (p.Arg289Cys) http://identifiers.org/clinvar/336374 ^@ NM_139279.5(MCFD2):c.*311G>A http://identifiers.org/clinvar/344510 ^@ NM_015560.2(OPA1):c.*2283A>G http://identifiers.org/clinvar/336581 ^@ NM_001135659.2(NRXN1):c.-1219C>T http://identifiers.org/clinvar/336274 ^@ NM_001430.4(EPAS1):c.2296A>C (p.Thr766Pro) http://identifiers.org/clinvar/344810 ^@ NM_006371.4(CRTAP):c.756G>C (p.Glu252Asp) http://identifiers.org/clinvar/336681 ^@ NM_002618.3(PEX13):c.*775G>A http://identifiers.org/clinvar/344960 ^@ NM_001106.3(ACVR2B):c.*2318C>T http://identifiers.org/clinvar/336881 ^@ NM_002056.3(GFPT1):c.223+5C>T http://identifiers.org/clinvar/336531 ^@ NM_001135659.2(NRXN1):c.*814G>A http://identifiers.org/clinvar/336931 ^@ NM_001692.3(ATP6V1B1):c.*80C>T http://identifiers.org/clinvar/344360 ^@ NM_005787.5(ALG3):c.222C>T (p.Tyr74=) http://identifiers.org/clinvar/345260 ^@ NM_016006.4(ABHD5):c.*2324G>T http://identifiers.org/clinvar/336981 ^@ NM_003494.3(DYSF):c.*142G>A http://identifiers.org/clinvar/344410 ^@ NM_003722.4(TP63):c.*1217T>C http://identifiers.org/clinvar/345510 ^@ NM_024513.3(FYCO1):c.2399G>A (p.Arg800Gln) http://identifiers.org/clinvar/337131 ^@ NM_013247.4(HTRA2):c.507-9C>A http://identifiers.org/clinvar/337081 ^@ NM_004082.4(DCTN1):c.2278A>G (p.Met760Val) http://identifiers.org/clinvar/337331 ^@ NM_003896.3(ST3GAL5):c.*140A>T http://identifiers.org/clinvar/337181 ^@ NM_000821.6(GGCX):c.*4314T>C http://identifiers.org/clinvar/337481 ^@ NM_017849.3(TMEM127):c.*1620C>T http://identifiers.org/clinvar/337381 ^@ NM_022912.2(REEP1):c.*724G>C http://identifiers.org/clinvar/345310 ^@ NM_182760.3(SUMF1):c.*214A>G http://identifiers.org/clinvar/337431 ^@ NM_144563.2(RPIA):c.527+11T>C http://identifiers.org/clinvar/337531 ^@ NM_014014.4(SNRNP200):c.5775C>G (p.Ala1925=) http://identifiers.org/clinvar/337681 ^@ NM_001298.2(CNGA3):c.*1050A>G http://identifiers.org/clinvar/337581 ^@ NM_020184.3(CNNM4):c.434T>C (p.Met145Thr) http://identifiers.org/clinvar/342371 ^@ NM_033084.4(FANCD2):c.2826G>A (p.Thr942=) http://identifiers.org/clinvar/342321 ^@ NM_016247.3(IMPG2):c.*430T>C http://identifiers.org/clinvar/342521 ^@ NM_198196.2(CD96):c.270T>C (p.Thr90=) http://identifiers.org/clinvar/342471 ^@ NM_000551.3(VHL):c.*2540_*2545delTTTTTT http://identifiers.org/clinvar/342671 ^@ NM_020754.3(ARHGAP31):c.3802G>A (p.Gly1268Arg) http://identifiers.org/clinvar/342621 ^@ NM_020754.3(ARHGAP31):c.-165_-159dupCCCGCGG http://identifiers.org/clinvar/347349 ^@ NM_001148.4(ANK2):c.11686G>T (p.Val3896Leu) http://identifiers.org/clinvar/342871 ^@ NM_053025.3(MYLK):c.4415+9A>G http://identifiers.org/clinvar/342821 ^@ NM_000388.3(CASR):c.*1201C>T http://identifiers.org/clinvar/347549 ^@ NM_031296.2(RAB33B):c.-348G>C http://identifiers.org/clinvar/347599 ^@ NM_172250.2(MMAA):c.383T>C (p.Leu128Pro) http://identifiers.org/clinvar/343021 ^@ NM_000373.3(UMPS):c.*4138T>G http://identifiers.org/clinvar/347699 ^@ NM_000901.4(NR3C2):c.*1307C>G http://identifiers.org/clinvar/343271 ^@ NM_052985.3(IFT122):c.*16C>T http://identifiers.org/clinvar/347799 ^@ NM_005141.4(FGB):c.*1550C>T http://identifiers.org/clinvar/343371 ^@ NM_153240.4(NPHP3):c.*139T>G http://identifiers.org/clinvar/343421 ^@ NM_001063.3(TF):c.-65G>C http://identifiers.org/clinvar/347949 ^@ NM_000824.4(GLRB):c.*1243A>G http://identifiers.org/clinvar/348099 ^@ NM_012224.2(NEK1):c.2915A>C (p.His972Pro) http://identifiers.org/clinvar/343521 ^@ NM_024334.2(TMEM43):c.*738G>A http://identifiers.org/clinvar/353587 ^@ NM_002310.5(LIFR):c.*1459T>G http://identifiers.org/clinvar/361954 ^@ NM_003235.4(TG):c.3964T>C (p.Leu1322=) http://identifiers.org/clinvar/358316 ^@ NM_000602.4(SERPINE1):c.*361T>C http://identifiers.org/clinvar/362104 ^@ NM_000497.3(CYP11B1):c.*1852T>G http://identifiers.org/clinvar/362154 ^@ NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) http://identifiers.org/clinvar/362204 ^@ NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) http://identifiers.org/clinvar/362254 ^@ NM_130849.3(SLC39A4):c.594C>T (p.Ala198=) http://identifiers.org/clinvar/362404 ^@ NM_000237.2(LPL):c.-38C>G http://identifiers.org/clinvar/362604 ^@ NM_006129.4(BMP1):c.2724C>T (p.Thr908=) http://identifiers.org/clinvar/363054 ^@ NM_006749.4(SLC20A2):c.*926C>T http://identifiers.org/clinvar/363204 ^@ NM_005914.3(MCM4):c.-253C>T http://identifiers.org/clinvar/355026 ^@ NM_014845.5(FIG4):c.-134C>G http://identifiers.org/clinvar/355127 ^@ NM_001010892.2(RSPH4A):c.*64A>C http://identifiers.org/clinvar/355227 ^@ NM_006073.3(TRDN):c.134G>T (p.Ser45Ile) http://identifiers.org/clinvar/355627 ^@ NM_003764.3(STX11):c.*1542C>T http://identifiers.org/clinvar/360055 ^@ NM_198428.2(BBS9):c.-259G>A http://identifiers.org/clinvar/355677 ^@ NM_203395.2(IYD):c.745G>A (p.Val249Met) http://identifiers.org/clinvar/355477 ^@ NM_172105.3(EYA4):c.*3014T>C http://identifiers.org/clinvar/355827 ^@ NM_033071.3(SYNE1):c.21803C>A (p.Ala7268Asp) http://identifiers.org/clinvar/356077 ^@ NM_198586.2(NHLRC1):c.*85T>A http://identifiers.org/clinvar/360655 ^@ NM_000501.3(ELN):c.1470T>C (p.Gly490=) http://identifiers.org/clinvar/356377 ^@ NM_080680.2(COL11A2):c.*439C>A http://identifiers.org/clinvar/356127 ^@ NM_001080.3(ALDH5A1):c.208C>A (p.Leu70Ile) http://identifiers.org/clinvar/360855 ^@ NM_005751.4(AKAP9):c.11335A>C (p.Lys3779Gln) http://identifiers.org/clinvar/356177 ^@ NM_001080.3(ALDH5A1):c.*1918G>A http://identifiers.org/clinvar/356227 ^@ NM_000434.3(NEU1):c.*445T>G http://identifiers.org/clinvar/356327 ^@ NM_006929.4(SKIV2L):c.1694C>T (p.Ala565Val) http://identifiers.org/clinvar/356427 ^@ NM_001014.4(RPS10):c.-21C>G http://identifiers.org/clinvar/361205 ^@ NM_178857.5(RP1L1):c.7004A>G (p.His2335Arg) http://identifiers.org/clinvar/366154 ^@ NM_144966.5(FREM1):c.2073C>T (p.Ser691=) http://identifiers.org/clinvar/366204 ^@ NM_003070.4(SMARCA2):c.791-7C>T http://identifiers.org/clinvar/366254 ^@ NM_003070.4(SMARCA2):c.4584A>G (p.Ser1528=) http://identifiers.org/clinvar/298607 ^@ NM_016169.3(SUFU):c.*2668C>T http://identifiers.org/clinvar/312433 ^@ NM_006493.2(CLN5):c.*180C>T http://identifiers.org/clinvar/312483 ^@ NM_052910.2(SLITRK1):c.*1149dupT http://identifiers.org/clinvar/312583 ^@ NM_005708.4(GPC6):c.*1610A>C http://identifiers.org/clinvar/312783 ^@ NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) http://identifiers.org/clinvar/312833 ^@ NM_001126106.2(SLC7A7):c.-175+7G>C http://identifiers.org/clinvar/298557 ^@ NM_024747.5(HPS6):c.1181T>C (p.Val394Ala) http://identifiers.org/clinvar/313033 ^@ NM_025152.2(NUBPL):c.*135T>G http://identifiers.org/clinvar/299057 ^@ NM_002775.4(HTRA1):c.*217T>A http://identifiers.org/clinvar/313133 ^@ NM_001079668.2(NKX2-1):c.*210T>A http://identifiers.org/clinvar/299157 ^@ NM_001609.3(ACADSB):c.*4135G>A http://identifiers.org/clinvar/298757 ^@ NM_000494.3(COL17A1):c.-12+10C>T http://identifiers.org/clinvar/299257 ^@ NM_006214.3(PHYH):c.321G>A (p.Ser107=) http://identifiers.org/clinvar/298857 ^@ NM_001134363.2(RBM20):c.*3289C>T http://identifiers.org/clinvar/313383 ^@ NM_000161.2(GCH1):c.*507C>G http://identifiers.org/clinvar/299307 ^@ NM_001033855.2(DCLRE1C):c.*220delC http://identifiers.org/clinvar/299657 ^@ NM_017433.4(MYO3A):c.1662-9T>A http://identifiers.org/clinvar/299357 ^@ NM_001081.3(CUBN):c.10752A>T (p.Pro3584=) http://identifiers.org/clinvar/299407 ^@ NM_001081.3(CUBN):c.8222C>A (p.Thr2741Asn) http://identifiers.org/clinvar/299457 ^@ NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) http://identifiers.org/clinvar/314572 ^@ NM_004863.3(SPTLC2):c.*6018A>C http://identifiers.org/clinvar/299607 ^@ NM_201590.2(CACNB2):c.*995T>A http://identifiers.org/clinvar/314972 ^@ NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) http://identifiers.org/clinvar/306260 ^@ NM_024698.5(SLC25A22):c.742+9A>G http://identifiers.org/clinvar/300646 ^@ NM_004273.4(CHST3):c.*3306A>G http://identifiers.org/clinvar/300896 ^@ NM_012330.3(KAT6B):c.5512G>T (p.Ala1838Ser) http://identifiers.org/clinvar/309789 ^@ NM_002206.2(ITGA7):c.1639A>G (p.Ser547Gly) http://identifiers.org/clinvar/309839 ^@ NM_000456.2(SUOX):c.983C>T (p.Thr328Ile) http://identifiers.org/clinvar/329405 ^@ NM_152296.4(ATP1A3):c.2419-7C>T http://identifiers.org/clinvar/309889 ^@ NM_012064.3(MIP):c.-10C>A http://identifiers.org/clinvar/329705 ^@ NM_000554.5(CRX):c.*252C>T http://identifiers.org/clinvar/329855 ^@ NM_017636.3(TRPM4):c.1473A>G (p.Leu491=) http://identifiers.org/clinvar/318274 ^@ NM_004970.2(IGFALS):c.-32G>A http://identifiers.org/clinvar/310189 ^@ NM_002076.3(GNS):c.*826G>A http://identifiers.org/clinvar/310239 ^@ NM_014319.4(LEMD3):c.1720A>G (p.Ile574Val) http://identifiers.org/clinvar/318424 ^@ NM_000336.2(SCNN1B):c.586-15T>C http://identifiers.org/clinvar/310339 ^@ NM_000239.2(LYZ):c.*280_*289dupTTTTTTTTTT http://identifiers.org/clinvar/311883 ^@ NM_001127217.2(SMAD9):c.*435delC http://identifiers.org/clinvar/312033 ^@ NM_207361.5(FREM2):c.8757A>G (p.Leu2919=) http://identifiers.org/clinvar/310794 ^@ NM_005888.3(SLC25A3):c.-61G>T http://identifiers.org/clinvar/312333 ^@ NM_024570.3(RNASEH2B):c.822+6T>C http://identifiers.org/clinvar/319274 ^@ NM_018206.5(VPS35):c.*287_*288insAAAC http://identifiers.org/clinvar/310894 ^@ NM_004115.3(FGF14):c.664G>A (p.Gly222Arg) http://identifiers.org/clinvar/319374 ^@ NM_000293.2(PHKB):c.*595G>A http://identifiers.org/clinvar/311044 ^@ NM_001845.5(COL4A1):c.3164C>T (p.Pro1055Leu) http://identifiers.org/clinvar/312633 ^@ NM_001376.4(DYNC1H1):c.5472C>T (p.Ser1824=) http://identifiers.org/clinvar/312683 ^@ NM_022489.3(INF2):c.1078G>A (p.Val360Ile) http://identifiers.org/clinvar/338420 ^@ NM_005461.4(MAFB):c.-310G>A http://identifiers.org/clinvar/312883 ^@ NM_002471.3(MYH6):c.212T>C (p.Val71Ala) http://identifiers.org/clinvar/338670 ^@ NM_000311.4(PRNP):c.*1063G>A http://identifiers.org/clinvar/338971 ^@ NM_004738.4(VAPB):c.*3260C>T http://identifiers.org/clinvar/320664 ^@ NM_022041.3(GAN):c.*81T>C http://identifiers.org/clinvar/313483 ^@ NM_182914.2(SYNE2):c.280A>G (p.Ile94Val) http://identifiers.org/clinvar/311933 ^@ NM_207361.5(FREM2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/311983 ^@ NM_207361.5(FREM2):c.4889T>C (p.Val1630Ala) http://identifiers.org/clinvar/320814 ^@ NM_001451.2(FOXF1):c.*591G>T http://identifiers.org/clinvar/321114 ^@ NM_020686.5(ABAT):c.*1202G>A http://identifiers.org/clinvar/312083 ^@ NM_207361.5(FREM2):c.*3731A>C http://identifiers.org/clinvar/313633 ^@ NM_182914.2(SYNE2):c.17832G>A (p.Ala5944=) http://identifiers.org/clinvar/320964 ^@ NM_001127464.2(ZNF469):c.6995C>T (p.Pro2332Leu) http://identifiers.org/clinvar/321264 ^@ NM_000303.2(PMM2):c.*1219C>T http://identifiers.org/clinvar/321364 ^@ NM_000135.2(FANCA):c.793-9T>C http://identifiers.org/clinvar/321514 ^@ NM_000833.4(GRIN2A):c.*6149C>G http://identifiers.org/clinvar/367822 ^@ NM_001167.3(XIAP):c.*3383T>C http://identifiers.org/clinvar/368372 ^@ NM_153380.3(ZNF41):c.627T>C (p.Ser209=) http://identifiers.org/clinvar/368522 ^@ NM_000084.4(CLCN5):c.*4692C>T http://identifiers.org/clinvar/368572 ^@ NM_006306.3(SMC1A):c.*2435T>G http://identifiers.org/clinvar/368622 ^@ NM_000206.2(IL2RG):c.-66T>C http://identifiers.org/clinvar/329505 ^@ NM_000400.3(ERCC2):c.2094G>A (p.Gln698=) http://identifiers.org/clinvar/368722 ^@ NM_153252.4(BRWD3):c.*121C>G http://identifiers.org/clinvar/368772 ^@ NM_024921.3(POF1B):c.*635T>C http://identifiers.org/clinvar/329905 ^@ NM_024729.3(MYH14):c.440C>T (p.Pro147Leu) http://identifiers.org/clinvar/337831 ^@ NM_024411.4(PDYN):c.*231C>G http://identifiers.org/clinvar/338470 ^@ NM_000457.4(HNF4A):c.*2374G>C http://identifiers.org/clinvar/338570 ^@ NM_001250.5(CD40):c.52-15C>T http://identifiers.org/clinvar/338620 ^@ NM_030777.3(SLC2A10):c.*1143G>T http://identifiers.org/clinvar/329655 ^@ NM_025136.3(OPA3):c.*1387C>T http://identifiers.org/clinvar/329755 ^@ NM_000554.5(CRX):c.*2137G>A http://identifiers.org/clinvar/338871 ^@ NM_002591.3(PCK1):c.179T>C (p.Met60Thr) http://identifiers.org/clinvar/329955 ^@ NM_024729.3(MYH14):c.*122A>C http://identifiers.org/clinvar/337781 ^@ NM_006363.4(SEC23B):c.-232C>G http://identifiers.org/clinvar/338520 ^@ NM_000308.3(CTSA):c.-172A>C http://identifiers.org/clinvar/338720 ^@ NM_006420.2(ARFGEF2):c.*1200A>G http://identifiers.org/clinvar/338821 ^@ NM_000782.4(CYP24A1):c.990+9G>A http://identifiers.org/clinvar/341821 ^@ NM_001429.3(EP300):c.6374A>G (p.His2125Arg) http://identifiers.org/clinvar/384734 ^@ NM_012470.3(TNPO3):c.2273+16G>A http://identifiers.org/clinvar/380687 ^@ NM_001003800.1(BICD2):c.1333G>A (p.Glu445Lys) http://identifiers.org/clinvar/388962 ^@ NM_000136.2(FANCC):c.1330-11C>T http://identifiers.org/clinvar/392101 ^@ NM_001077653.2(TBX20):c.632A>T (p.Asn211Ile) http://identifiers.org/clinvar/382079 ^@ NM_024678.5(NARS2):c.-27C>A http://identifiers.org/clinvar/392001 ^@ NM_000742.3(CHRNA2):c.869C>T (p.Pro290Leu) http://identifiers.org/clinvar/384283 ^@ NM_007078.2(LDB3):c.468C>T (p.Ala156=) http://identifiers.org/clinvar/384634 ^@ NM_000742.3(CHRNA2):c.12C>T (p.Ser4=) http://identifiers.org/clinvar/379635 ^@ NM_000051.3(ATM):c.5763-11T>C http://identifiers.org/clinvar/390401 ^@ NM_001382.3(DPAGT1):c.644-10G>A http://identifiers.org/clinvar/383833 ^@ NM_153026.2(PRICKLE1):c.2127T>C (p.Tyr709=) http://identifiers.org/clinvar/382981 ^@ NM_000050.4(ASS1):c.-19G>A http://identifiers.org/clinvar/380989 ^@ NM_007103.3(NDUFV1):c.155+12C>T http://identifiers.org/clinvar/388762 ^@ NM_003172.3(SURF1):c.241-7A>C http://identifiers.org/clinvar/382029 ^@ NM_000093.4(COL5A1):c.277+20G>C http://identifiers.org/clinvar/391801 ^@ NM_000260.3(MYO7A):c.1871C>A (p.Thr624Lys) http://identifiers.org/clinvar/382230 ^@ NM_016464.4(TMEM138):c.377-8C>G http://identifiers.org/clinvar/383582 ^@ NM_032667.6(BSCL2):c.212+15C>G http://identifiers.org/clinvar/380136 ^@ NM_213595.3(ISCU):c.144C>T (p.Asn48=) http://identifiers.org/clinvar/384233 ^@ NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) http://identifiers.org/clinvar/385923 ^@ NM_012309.4(SHANK2):c.912+4074G>A http://identifiers.org/clinvar/382380 ^@ NM_024678.5(NARS2):c.174A>G (p.Glu58=) http://identifiers.org/clinvar/381039 ^@ NM_000059.3(BRCA2):c.7341T>C (p.Asn2447=) http://identifiers.org/clinvar/382831 ^@ NM_000059.3(BRCA2):c.8733A>G (p.Ala2911=) http://identifiers.org/clinvar/384033 ^@ NM_007327.3(GRIN1):c.2444-14G>A http://identifiers.org/clinvar/383933 ^@ NM_006231.3(POLE):c.-8A>G http://identifiers.org/clinvar/388312 ^@ NM_000834.3(GRIN2B):c.2813G>A (p.Arg938His) http://identifiers.org/clinvar/389362 ^@ NM_013382.5(POMT2):c.1983C>T (p.Leu661=) http://identifiers.org/clinvar/380186 ^@ NM_001126106.2(SLC7A7):c.272C>T (p.Ala91Val) http://identifiers.org/clinvar/388362 ^@ NM_000548.4(TSC2):c.5307C>T (p.His1769=) http://identifiers.org/clinvar/380387 ^@ NM_006177.3(NRL):c.199C>T (p.Pro67Ser) http://identifiers.org/clinvar/391901 ^@ NM_006888.4(CALM1):c.18C>T (p.Thr6=) http://identifiers.org/clinvar/386523 ^@ NM_020778.4(ALPK3):c.4571+11G>A http://identifiers.org/clinvar/379936 ^@ NM_014365.2(HSPB8):c.-35T>A http://identifiers.org/clinvar/386623 ^@ NM_006231.3(POLE):c.3796-20G>A http://identifiers.org/clinvar/384183 ^@ NM_006231.3(POLE):c.2468+12C>T http://identifiers.org/clinvar/379585 ^@ NM_000833.4(GRIN2A):c.669C>T (p.His223=) http://identifiers.org/clinvar/47538 ^@ NM_133378.4(TTN):c.86264C>T (p.Ala28755Val) http://identifiers.org/clinvar/47588 ^@ NM_133378.4(TTN):c.90056G>A (p.Arg30019His) http://identifiers.org/clinvar/47638 ^@ NM_001267550.2(TTN):c.101406C>G (p.Val33802=) http://identifiers.org/clinvar/47688 ^@ NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) http://identifiers.org/clinvar/47738 ^@ NM_133379.4(TTN):c.11741C>G (p.Thr3914Arg) http://identifiers.org/clinvar/47788 ^@ NM_133379.4(TTN):c.15782T>C (p.Ile5261Thr) http://identifiers.org/clinvar/47838 ^@ NM_001256850.1(TTN):c.12643A>C (p.Thr4215Pro) http://identifiers.org/clinvar/47888 ^@ NM_144573.3(NEXN):c.1366G>A (p.Gly456Arg) http://identifiers.org/clinvar/47938 ^@ NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) http://identifiers.org/clinvar/47988 ^@ NM_153676.3(USH1C):c.2047C>T (p.Pro683Ser) http://identifiers.org/clinvar/48040 ^@ NM_170707.3(LMNA):c.150C>T (p.Arg50=) http://identifiers.org/clinvar/48090 ^@ NM_170707.3(LMNA):c.868G>A (p.Glu290Lys) http://identifiers.org/clinvar/48140 ^@ NM_173477.4(USH1G):c.84C>T (p.Pro28=) http://identifiers.org/clinvar/48190 ^@ NM_194322.2(OTOF):c.68T>G (p.Ile23Ser) http://identifiers.org/clinvar/48240 ^@ NM_194248.2(OTOF):c.4718T>C (p.Ile1573Thr) http://identifiers.org/clinvar/48290 ^@ NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) http://identifiers.org/clinvar/48341 ^@ NM_198999.2(SLC26A5):c.989A>G (p.Asn330Ser) http://identifiers.org/clinvar/48391 ^@ NM_206933.2(USH2A):c.12093C>T (p.Tyr4031=) http://identifiers.org/clinvar/48441 ^@ NM_206933.2(USH2A):c.14517G>A (p.Thr4839=) http://identifiers.org/clinvar/48491 ^@ NM_206933.2(USH2A):c.2777G>A (p.Arg926His) http://identifiers.org/clinvar/15 ^@ NM_000410.3(HFE):c.157G>A (p.Val53Met) http://identifiers.org/clinvar/30 ^@ NM_138413.3(HOGA1):c.860G>T (p.Gly287Val) http://identifiers.org/clinvar/236 ^@ NM_000398.6(CYB5R3):c.446T>C (p.Leu149Pro) http://identifiers.org/clinvar/539 ^@ EYS, 1-BP DELETION, 6714T http://identifiers.org/clinvar/571 ^@ NM_024120.4(NDUFAF5):c.477A>C (p.Leu159Phe) http://identifiers.org/clinvar/580 ^@ NM_000277.1(PAH):c.838G>A (p.Glu280Lys) http://identifiers.org/clinvar/652 ^@ F5, 1-BP DEL, 2952T http://identifiers.org/clinvar/684 ^@ FUCA1, IVS5DS, G-A, +1 http://identifiers.org/clinvar/693 ^@ NM_001145320.1(ADAMTSL2):c.440C>T (p.Pro147Leu) http://identifiers.org/clinvar/996 ^@ NM_000380.3(XPA):c.619C>T (p.Arg207Ter) http://identifiers.org/clinvar/1090 ^@ NM_017791.2(FLVCR2):c.473C>A (p.Ser158Ter) http://identifiers.org/clinvar/1178 ^@ NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met) http://identifiers.org/clinvar/1222 ^@ NM_032985.4(SEC23B):c.325G>A (p.Glu109Lys) http://identifiers.org/clinvar/1273 ^@ NM_173660.4(DOK7):c.1124_1127dupTGCC (p.Ala378Serfs) http://identifiers.org/clinvar/1318 ^@ SLC4A11, 32-BP DEL, NT2423 http://identifiers.org/clinvar/1363 ^@ NM_148960.2(CLDN19):c.269T>C (p.Leu90Pro) http://identifiers.org/clinvar/1409 ^@ NM_153609.3(TMPRSS6):c.2055_2058dupCCCC (p.Val687Profs) http://identifiers.org/clinvar/1454 ^@ NM_000190.3(HMBS):c.91G>A (p.Ala31Thr) http://identifiers.org/clinvar/1997 ^@ NM_199242.2(UNC13D):c.216delC (p.Asn73Thrfs) http://identifiers.org/clinvar/2040 ^@ NM_032146.5(ARL6):c.364C>T (p.Arg122Ter) http://identifiers.org/clinvar/2086 ^@ NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys) http://identifiers.org/clinvar/2131 ^@ NM_005787.5(ALG3):c.470T>A (p.Met157Lys) http://identifiers.org/clinvar/2179 ^@ NM_022370.3(ROBO3):c.14T>C (p.Leu5Pro) http://identifiers.org/clinvar/2223 ^@ NM_000551.3(VHL):c.292T>C (p.Tyr98His) http://identifiers.org/clinvar/2269 ^@ NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) http://identifiers.org/clinvar/2314 ^@ NM_005609.3(PYGM):c.1722T>G (p.Tyr574Ter) http://identifiers.org/clinvar/2405 ^@ NM_032409.2(PINK1):c.813C>A (p.His271Gln) http://identifiers.org/clinvar/2450 ^@ NM_000434.3(NEU1):c.727G>A (p.Gly243Arg) http://identifiers.org/clinvar/2497 ^@ NM_000127.2(EXT1):c.528_535delCAAAGTGC (p.Lys177Glufs) http://identifiers.org/clinvar/2543 ^@ NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) http://identifiers.org/clinvar/2590 ^@ NM_198586.2(NHLRC1):c.793C>T (p.Arg265Ter) http://identifiers.org/clinvar/2636 ^@ NM_153240.4(NPHP3):c.1729C>T (p.Arg577Ter) http://identifiers.org/clinvar/2681 ^@ NM_031443.3(CCM2):c.319C>T (p.Gln107Ter) http://identifiers.org/clinvar/2728 ^@ NM_004183.3(BEST1):c.253T>C (p.Tyr85His) http://identifiers.org/clinvar/2773 ^@ NM_024312.4(GNPTAB):c.3335+6T>G http://identifiers.org/clinvar/2818 ^@ NM_017890.4(VPS13B):c.3348_3349delCT (p.Cys1117Phefs) http://identifiers.org/clinvar/2863 ^@ NM_173076.2(ABCA12):c.3535G>A (p.Gly1179Arg) http://identifiers.org/clinvar/2909 ^@ SBF2, EX11-12DEL http://identifiers.org/clinvar/2954 ^@ NM_000379.3(XDH):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/3048 ^@ NM_000051.3(ATM):c.146C>G (p.Ser49Cys) http://identifiers.org/clinvar/3094 ^@ NM_000487.5(ARSA):c.1279C>A (p.Pro427Thr) http://identifiers.org/clinvar/3194 ^@ NM_032830.2(UTP4):c.1693C>T (p.Arg565Trp) http://identifiers.org/clinvar/3240 ^@ NM_007171.3(POMT1):c.2110dupG (p.Ala704Glyfs) http://identifiers.org/clinvar/10397 ^@ NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) http://identifiers.org/clinvar/10444 ^@ NM_001097642.2(GJB1):c.254C>G (p.Ser85Cys) http://identifiers.org/clinvar/10492 ^@ NC_000023.11:g.(?_149478764)_(149505354_?)del http://identifiers.org/clinvar/10538 ^@ NM_000292.2(PHKA2):c.556C>T (p.Arg186Cys) http://identifiers.org/clinvar/10583 ^@ F9, TRP194TER http://identifiers.org/clinvar/10628 ^@ NM_000133.3(F9):c.1357T>C (p.Trp453Arg) http://identifiers.org/clinvar/10674 ^@ FAM58A, 1-BP DUP http://identifiers.org/clinvar/10719 ^@ NM_000169.2(GLA):c.118C>T (p.Pro40Ser) http://identifiers.org/clinvar/10764 ^@ NM_000169.2(GLA):c.58G>C (p.Ala20Pro) http://identifiers.org/clinvar/10809 ^@ NM_033290.3(MID1):c.343G>T (p.Glu115Ter) http://identifiers.org/clinvar/10854 ^@ NM_000054.4(AVPR2):c.409C>T (p.Arg137Cys) http://identifiers.org/clinvar/10945 ^@ NM_001205019.1(GK):c.1255C>T (p.Arg419Ter) http://identifiers.org/clinvar/10991 ^@ NM_000531.5(OTC):c.460G>T (p.Glu154Ter) http://identifiers.org/clinvar/11035 ^@ NM_001399.4(EDA):c.463C>T (p.Arg155Cys) http://identifiers.org/clinvar/11080 ^@ NM_001128834.2(PLP1):c.671T>C (p.Leu224Pro) http://identifiers.org/clinvar/11125 ^@ NM_000377.2(WAS):c.809T>C (p.Leu270Pro) http://identifiers.org/clinvar/11171 ^@ EMD, 2-BP DEL, NT564 http://identifiers.org/clinvar/11216 ^@ DMD, 1-BP INS, EX12 http://identifiers.org/clinvar/11261 ^@ NM_004006.2(DMD):c.6373C>T (p.Gln2125Ter) http://identifiers.org/clinvar/11306 ^@ NM_000033.3(ABCD1):c.1552delC (p.Arg518Glyfs) http://identifiers.org/clinvar/11352 ^@ NM_000061.2(BTK):c.228_231delAAGA (p.Glu76Aspfs) http://identifiers.org/clinvar/11398 ^@ UPF3B, 4-BP DEL, 674GAAA http://identifiers.org/clinvar/11408 ^@ FOXP3, 20-BP DEL, 3-BP INS, NT1290 http://identifiers.org/clinvar/11458 ^@ IKBKG, 13-BP DUP, NT1166 http://identifiers.org/clinvar/11509 ^@ NM_001011658.3(TRAPPC2):c.157_158delAT (p.Met53Valfs) http://identifiers.org/clinvar/11560 ^@ NM_001449.4(FHL1):c.688+1G>A http://identifiers.org/clinvar/11610 ^@ NM_178152.2(DCX):c.211G>T (p.Ala71Ser) http://identifiers.org/clinvar/11660 ^@ NM_004586.2(RPS6KA3):c.566T>A (p.Ile189Lys) http://identifiers.org/clinvar/11711 ^@ NM_004429.4(EFNB1):c.472A>G (p.Met158Val) http://identifiers.org/clinvar/11762 ^@ NM_001110556.1(FLNA):c.4904_4912delGTGCCGTGC (p.Arg1635_Val1637del) http://identifiers.org/clinvar/11813 ^@ MECP2, 44-BP DEL, NT1152 http://identifiers.org/clinvar/11863 ^@ NM_000260.3(MYO7A):c.1373A>T (p.Asn458Ile) http://identifiers.org/clinvar/11913 ^@ IDUA, IVS5AS, G-A, -7 http://identifiers.org/clinvar/11963 ^@ INVS, 1-BP DEL, 1453C http://identifiers.org/clinvar/12015 ^@ NM_000532.4(PCCB):c.502G>A (p.Glu168Lys) http://identifiers.org/clinvar/12065 ^@ F10, GLU32GLN http://identifiers.org/clinvar/12115 ^@ C6, 1-BP DEL, 879G http://identifiers.org/clinvar/12168 ^@ CYP21A2, IVS7DS, G-C, +1 http://identifiers.org/clinvar/12220 ^@ NM_000490.4(AVP):c.346T>G (p.Cys116Gly) http://identifiers.org/clinvar/12271 ^@ NM_000463.2(UGT1A1):c.513_515delCTT (p.Phe171del) http://identifiers.org/clinvar/12323 ^@ NM_001715.2(BLK):c.*505G>T http://identifiers.org/clinvar/12374 ^@ NM_000546.5(TP53):c.524G>A (p.Arg175His) http://identifiers.org/clinvar/12829 ^@ SPTB, BETA-IV DOMAIN http://identifiers.org/clinvar/36667 ^@ NM_174936.3(PCSK9):c.1503+67T>C http://identifiers.org/clinvar/36719 ^@ NM_000536.3(RAG2):c.217C>T (p.Arg73Cys) http://identifiers.org/clinvar/36772 ^@ NM_000337.5(SGCD):c.294+8T>C http://identifiers.org/clinvar/36822 ^@ NM_000545.6(HNF1A):c.467C>T (p.Thr156Met) http://identifiers.org/clinvar/37760 ^@ NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) http://identifiers.org/clinvar/37814 ^@ NM_000059.3(BRCA2):c.3009_3010delCA (p.His1003Glnfs) http://identifiers.org/clinvar/37866 ^@ NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) http://identifiers.org/clinvar/37919 ^@ NM_000059.3(BRCA2):c.4712_4713delAG (p.Glu1571Glyfs) http://identifiers.org/clinvar/37973 ^@ NM_000059.3(BRCA2):c.5554G>A (p.Val1852Ile) http://identifiers.org/clinvar/38024 ^@ NM_000059.3(BRCA2):c.6196G>A (p.Val2066Ile) http://identifiers.org/clinvar/38078 ^@ NM_000059.3(BRCA2):c.7008-5T>C http://identifiers.org/clinvar/38128 ^@ NM_000059.3(BRCA2):c.7963C>T (p.Gln2655Ter) http://identifiers.org/clinvar/38178 ^@ NM_000059.3(BRCA2):c.8680delC (p.Gln2894Lysfs) http://identifiers.org/clinvar/38228 ^@ NM_000059.3(BRCA2):c.9294C>A (p.Tyr3098Ter) http://identifiers.org/clinvar/38284 ^@ NM_020630.4(RET):c.1826G>T (p.Cys609Phe) http://identifiers.org/clinvar/38483 ^@ NM_000060.4(BTD):c.128A>G (p.His43Arg) http://identifiers.org/clinvar/38344 ^@ NM_001457.3(FLNB):c.512T>A (p.Leu171Gln) http://identifiers.org/clinvar/38401 ^@ NM_014252.3(SLC25A15):c.658G>A (p.Gly220Arg) http://identifiers.org/clinvar/38629 ^@ NM_020975.4(RET):c.2647_2648delGCinsTT (p.Ala883Phe) http://identifiers.org/clinvar/38780 ^@ NM_000495.4(COL4A5):c.4235delG (p.Gly1412Aspfs) http://identifiers.org/clinvar/38904 ^@ NM_001007026.1(ATN1):c.1462_1464CAG(6_35) (p.Gln494_Gln502del) http://identifiers.org/clinvar/38954 ^@ NM_001363.4(DKC1):c.91C>G (p.Gln31Glu) http://identifiers.org/clinvar/39006 ^@ NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(850) http://identifiers.org/clinvar/39056 ^@ NM_024312.4(GNPTAB):c.2664C>G (p.Tyr888Ter) http://identifiers.org/clinvar/39110 ^@ NM_198253.2(TERT):c.2162C>G (p.Pro721Arg) http://identifiers.org/clinvar/39163 ^@ NM_198578.3(LRRK2):c.3333G>T (p.Gln1111His) http://identifiers.org/clinvar/39213 ^@ NM_198578.3(LRRK2):c.5606T>C (p.Met1869Thr) http://identifiers.org/clinvar/39264 ^@ NM_207352.3(CYP4V2):c.367A>G (p.Met123Val) http://identifiers.org/clinvar/39425 ^@ NM_004069.4(AP2S1):c.44G>T (p.Arg15Leu) http://identifiers.org/clinvar/39477 ^@ NM_001567.3(INPPL1):c.1975C>T (p.Pro659Ser) http://identifiers.org/clinvar/39528 ^@ NM_000359.2(TGM1):c.376C>T (p.Arg126Cys) http://identifiers.org/clinvar/41090 ^@ NM_003611.2(OFD1):c.2044dupA (p.Ile682Asnfs) http://identifiers.org/clinvar/51617 ^@ NM_000059.3(BRCA2):c.4258delG (p.Asp1420Ilefs) http://identifiers.org/clinvar/51669 ^@ NM_000059.3(BRCA2):c.4551_4554delAGAA (p.Lys1517Asnfs) http://identifiers.org/clinvar/51721 ^@ NM_000059.3(BRCA2):c.4829_4830delTG (p.Val1610Glyfs) http://identifiers.org/clinvar/51772 ^@ NM_000059.3(BRCA2):c.5115_5119delAAATA (p.Asn1706Cysfs) http://identifiers.org/clinvar/51823 ^@ NM_000059.3(BRCA2):c.5217_5224delTTTAAGTA (p.Tyr1739Terfs) http://identifiers.org/clinvar/52136 ^@ NM_000059.3(BRCA2):c.6627_6634delAGAAGTTT (p.Ile2209Metfs) http://identifiers.org/clinvar/52187 ^@ NM_000059.3(BRCA2):c.68-7T>A http://identifiers.org/clinvar/52238 ^@ NM_000059.3(BRCA2):c.7007+1G>T http://identifiers.org/clinvar/52289 ^@ NM_000059.3(BRCA2):c.7211_7212delAA (p.Lys2404Serfs) http://identifiers.org/clinvar/52339 ^@ NM_000059.3(BRCA2):c.7471C>T (p.Gln2491Ter) http://identifiers.org/clinvar/52389 ^@ NM_000059.3(BRCA2):c.7696G>T (p.Asp2566Tyr) http://identifiers.org/clinvar/52440 ^@ NM_000059.3(BRCA2):c.7934delG (p.Arg2645Asnfs) http://identifiers.org/clinvar/52490 ^@ NM_000059.3(BRCA2):c.8058delT (p.Val2687Phefs) http://identifiers.org/clinvar/52540 ^@ NM_000059.3(BRCA2):c.8285delC (p.Pro2762Leufs) http://identifiers.org/clinvar/52591 ^@ NM_000059.3(BRCA2):c.8451T>A (p.Cys2817Ter) http://identifiers.org/clinvar/52642 ^@ NM_000059.3(BRCA2):c.8633-16C>G http://identifiers.org/clinvar/52693 ^@ NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val) http://identifiers.org/clinvar/52743 ^@ NM_000059.3(BRCA2):c.9085G>A (p.Ala3029Thr) http://identifiers.org/clinvar/52795 ^@ NM_000059.3(BRCA2):c.9262dupG (p.Ala3088Glyfs) http://identifiers.org/clinvar/52846 ^@ NM_000059.3(BRCA2):c.9474delA (p.Phe3159Serfs) http://identifiers.org/clinvar/52896 ^@ NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) http://identifiers.org/clinvar/52946 ^@ NM_000218.2(KCNQ1):c.1066C>T (p.Gln356Ter) http://identifiers.org/clinvar/52996 ^@ NM_000218.2(KCNQ1):c.1588C>T (p.Gln530Ter) http://identifiers.org/clinvar/53046 ^@ NM_000218.2(KCNQ1):c.470T>G (p.Phe157Cys) http://identifiers.org/clinvar/53096 ^@ NM_000218.2(KCNQ1):c.760G>T (p.Val254Leu) http://identifiers.org/clinvar/53200 ^@ NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) http://identifiers.org/clinvar/53252 ^@ NM_000492.3(CFTR):c.1433_1434delCA (p.Ser478Terfs) http://identifiers.org/clinvar/53303 ^@ NM_000492.3(CFTR):c.164+1G>A http://identifiers.org/clinvar/53353 ^@ NM_000492.3(CFTR):c.1706A>G (p.Tyr569Cys) http://identifiers.org/clinvar/53403 ^@ NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) http://identifiers.org/clinvar/53455 ^@ NM_000492.3(CFTR):c.2215delG (p.Val739Tyrfs) http://identifiers.org/clinvar/53508 ^@ NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter) http://identifiers.org/clinvar/53558 ^@ NM_000492.3(CFTR):c.2750A>G (p.Tyr917Cys) http://identifiers.org/clinvar/54208 ^@ NM_007294.3(BRCA1):c.133_134delAA (p.Lys45Ilefs) http://identifiers.org/clinvar/54258 ^@ NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) http://identifiers.org/clinvar/54309 ^@ NM_007294.3(BRCA1):c.1612C>T (p.Gln538Ter) http://identifiers.org/clinvar/54359 ^@ NM_007294.3(BRCA1):c.181T>A (p.Cys61Ser) http://identifiers.org/clinvar/54410 ^@ NM_007294.3(BRCA1):c.1952delA (p.Lys651Argfs) http://identifiers.org/clinvar/54460 ^@ NM_007294.3(BRCA1):c.2105T>G (p.Leu702Ter) http://identifiers.org/clinvar/54510 ^@ NM_007294.3(BRCA1):c.2241delC (p.Asp749Ilefs) http://identifiers.org/clinvar/54560 ^@ NM_007294.3(BRCA1):c.2410C>T (p.Gln804Ter) http://identifiers.org/clinvar/54610 ^@ NM_007294.3(BRCA1):c.2591C>G (p.Ser864Ter) http://identifiers.org/clinvar/54660 ^@ NM_007294.3(BRCA1):c.2726dupA (p.Asn909Lysfs) http://identifiers.org/clinvar/54710 ^@ NM_007294.3(BRCA1):c.2887delA (p.Thr963Leufs) http://identifiers.org/clinvar/54760 ^@ NM_007294.3(BRCA1):c.3040A>T (p.Met1014Leu) http://identifiers.org/clinvar/54810 ^@ NM_007294.3(BRCA1):c.3257T>G (p.Leu1086Ter) http://identifiers.org/clinvar/54860 ^@ NM_007294.3(BRCA1):c.3367G>T (p.Asp1123Tyr) http://identifiers.org/clinvar/54910 ^@ NM_007294.3(BRCA1):c.3540_3541delCG (p.Val1181Profs) http://identifiers.org/clinvar/54962 ^@ NM_007294.3(BRCA1):c.3693dupT (p.Gly1232Trpfs) http://identifiers.org/clinvar/55013 ^@ NM_007294.3(BRCA1):c.3813dupT (p.Asn1272Terfs) http://identifiers.org/clinvar/55063 ^@ NM_007294.3(BRCA1):c.3967delC (p.Gln1323Lysfs) http://identifiers.org/clinvar/55114 ^@ NM_007294.3(BRCA1):c.415C>T (p.Gln139Ter) http://identifiers.org/clinvar/55165 ^@ NM_007294.3(BRCA1):c.4307_4308delCT (p.Ser1436Phefs) http://identifiers.org/clinvar/55216 ^@ NM_007294.3(BRCA1):c.4487C>G (p.Ser1496Ter) http://identifiers.org/clinvar/55266 ^@ NM_007294.3(BRCA1):c.470C>G (p.Ser157Cys) http://identifiers.org/clinvar/55317 ^@ NM_007294.3(BRCA1):c.4930G>T (p.Glu1644Ter) http://identifiers.org/clinvar/55367 ^@ NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter) http://identifiers.org/clinvar/103241 ^@ NM_138329.2(NLRP6):c.2541-36C>A http://identifiers.org/clinvar/103291 ^@ NM_153447.4(NLRP5):c.3299+19T>C http://identifiers.org/clinvar/103341 ^@ NM_176822.3(NLRP14):c.1281_1282delGT (p.Cys428Profs) http://identifiers.org/clinvar/111215 ^@ NM_000416.2(IFNGR1):c.547-131C>T http://identifiers.org/clinvar/111265 ^@ NM_003263.3(TLR1):c.2020G>A (p.Val674Ile) http://identifiers.org/clinvar/120227 ^@ NM_017637.5(BNC2):c.1239T>C (p.Asp413=) http://identifiers.org/clinvar/120277 ^@ NM_000277.1(PAH):c.504C>A (p.Tyr168Ter) http://identifiers.org/clinvar/120327 ^@ NM_001130145.2(YAP1):c.1066G>T (p.Glu356Ter) http://identifiers.org/clinvar/125495 ^@ NM_007294.3(BRCA1):c.1356delA (p.Glu453Argfs) http://identifiers.org/clinvar/125567 ^@ NM_007294.3(BRCA1):c.135-2A>G http://identifiers.org/clinvar/125655 ^@ NM_007294.3(BRCA1):c.3830dupC (p.Ala1279Glyfs) http://identifiers.org/clinvar/125717 ^@ U14680.1:n.4604-64C>G http://identifiers.org/clinvar/125786 ^@ NM_007294.3(BRCA1):c.5153-26A>G http://identifiers.org/clinvar/125856 ^@ NM_007294.3(BRCA1):c.5468-1G>A http://identifiers.org/clinvar/125918 ^@ NM_007294.3(BRCA1):c.851_852ins7 http://identifiers.org/clinvar/125981 ^@ NM_000059.3(BRCA2):c.2439dupT (p.Pro814Serfs) http://identifiers.org/clinvar/126045 ^@ NM_000059.3(BRCA2):c.4478A>G (p.Glu1493Gly) http://identifiers.org/clinvar/126118 ^@ NM_000059.3(BRCA2):c.476-9_476-8insT http://identifiers.org/clinvar/126177 ^@ NM_000059.3(BRCA2):c.8483_8484ins11 (p.?) http://identifiers.org/clinvar/126240 ^@ NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) http://identifiers.org/clinvar/126290 ^@ NM_024809.4(TCTN2):c.765-43A>T http://identifiers.org/clinvar/126341 ^@ NM_003070.4(SMARCA2):c.-5G>A http://identifiers.org/clinvar/126397 ^@ NM_006397.2(RNASEH2A):c.322C>T (p.Arg108Trp) http://identifiers.org/clinvar/126465 ^@ NM_021625.4(TRPV4):c.1566_1568dupCCT (p.Leu523_Phe524insLeu) http://identifiers.org/clinvar/126528 ^@ NM_152305.2(POGLUT1):c.11G>A (p.Trp4Ter) http://identifiers.org/clinvar/126602 ^@ NM_024675.3(PALB2):c.1431C>T (p.Thr477=) http://identifiers.org/clinvar/126654 ^@ NM_024675.3(PALB2):c.2469C>A (p.Leu823=) http://identifiers.org/clinvar/126704 ^@ NM_024675.3(PALB2):c.2997-624G>C http://identifiers.org/clinvar/127428 ^@ NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) http://identifiers.org/clinvar/127479 ^@ NM_000057.3(BLM):c.191A>T (p.Asp64Val) http://identifiers.org/clinvar/127529 ^@ NM_000136.2(FANCC):c.1001G>A (p.Arg334Gln) http://identifiers.org/clinvar/127579 ^@ NM_000179.2(MSH6):c.3137A>G (p.Asp1046Gly) http://identifiers.org/clinvar/127630 ^@ NM_000251.2(MSH2):c.1505A>G (p.Asp502Gly) http://identifiers.org/clinvar/127687 ^@ NM_000314.6(PTEN):c.1052_1054delTAG (p.Val351del) http://identifiers.org/clinvar/127739 ^@ NM_000465.3(BARD1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/127790 ^@ NM_000535.6(PMS2):c.354-5C>G http://identifiers.org/clinvar/160799 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x4 http://identifiers.org/clinvar/161845 ^@ NM_181808.3(POLN):c.2267G>A (p.Arg756Gln) http://identifiers.org/clinvar/161795 ^@ NM_058192.2(RPUSD1):c.521A>G (p.His174Arg) http://identifiers.org/clinvar/161745 ^@ NM_021140.3(KDM6A):c.452dupA (p.Ala152Serfs) http://identifiers.org/clinvar/162017 ^@ NM_018075.4(ANO10):c.1843G>A (p.Asp615Asn) http://identifiers.org/clinvar/179824 ^@ NM_206933.2(USH2A):c.15581G>A (p.Arg5194His) http://identifiers.org/clinvar/179774 ^@ NM_206933.2(USH2A):c.12877G>A (p.Gly4293Ser) http://identifiers.org/clinvar/178116 ^@ NM_001035.2(RYR2):c.3054T>C (p.Tyr1018=) http://identifiers.org/clinvar/177965 ^@ NM_001035.2(RYR2):c.14756+12C>T http://identifiers.org/clinvar/178166 ^@ NM_133378.4(TTN):c.87878A>G (p.Tyr29293Cys) http://identifiers.org/clinvar/178216 ^@ NM_001267550.2(TTN):c.43167C>T (p.Ser14389=) http://identifiers.org/clinvar/178266 ^@ NM_001267550.2(TTN):c.10104T>G (p.Val3368=) http://identifiers.org/clinvar/178016 ^@ NM_001927.3(DES):c.665G>A (p.Arg222His) http://identifiers.org/clinvar/179874 ^@ NM_006005.3(WFS1):c.1645C>G (p.Leu549Val) http://identifiers.org/clinvar/178666 ^@ NM_002880.3(RAF1):c.1108+9_1108+21del http://identifiers.org/clinvar/177663 ^@ NM_005228.4(EGFR):c.2235_2243delGGAATTAAG (p.Leu747_Glu749del) http://identifiers.org/clinvar/177764 ^@ NM_005228.4(EGFR):c.2236G>C (p.Glu746Gln) http://identifiers.org/clinvar/177914 ^@ NM_000337.5(SGCD):c.394G>A (p.Val132Ile) http://identifiers.org/clinvar/180124 ^@ NM_032119.3(ADGRV1):c.1510-7A>T http://identifiers.org/clinvar/198461 ^@ NM_001195263.1(PDZD7):c.878G>A (p.Arg293Gln) http://identifiers.org/clinvar/198515 ^@ NM_004565.2(PEX14):c.575C>G (p.Ala192Gly) http://identifiers.org/clinvar/198566 ^@ NM_001127713.1(ATL1):c.631-7T>A http://identifiers.org/clinvar/198618 ^@ NM_152778.2(MFSD8):c.656T>C (p.Phe219Ser) http://identifiers.org/clinvar/198669 ^@ NM_005529.6(HSPG2):c.10498G>A (p.Val3500Met) http://identifiers.org/clinvar/198721 ^@ NM_033290.3(MID1):c.1447_1447+1insAACA http://identifiers.org/clinvar/198776 ^@ NM_001492.5(GDF1):c.326-14T>C http://identifiers.org/clinvar/198827 ^@ NM_005477.2(HCN4):c.2979G>A (p.Thr993=) http://identifiers.org/clinvar/198883 ^@ NM_017653.3(DYM):c.621-2A>G http://identifiers.org/clinvar/198936 ^@ NM_207346.2(TSEN54):c.984T>C (p.Ala328=) http://identifiers.org/clinvar/198987 ^@ NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) http://identifiers.org/clinvar/199038 ^@ NM_000751.2(CHRND):c.933-9T>C http://identifiers.org/clinvar/199091 ^@ NM_004369.3(COL6A3):c.4217C>T (p.Thr1406Met) http://identifiers.org/clinvar/199143 ^@ NM_017780.3(CHD7):c.2614-7G>T http://identifiers.org/clinvar/199194 ^@ NM_181426.1(CCDC39):c.1035-5T>C http://identifiers.org/clinvar/199249 ^@ NM_133378.4(TTN):c.25368dupT (p.Val8457Cysfs) http://identifiers.org/clinvar/199752 ^@ NM_000090.3(COL3A1):c.565G>A (p.Gly189Ser) http://identifiers.org/clinvar/199698 ^@ NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) http://identifiers.org/clinvar/199859 ^@ NM_004415.3(DSP):c.1102A>T (p.Ile368Phe) http://identifiers.org/clinvar/199918 ^@ NM_004415.3(DSP):c.2870_2874delCAATT (p.Ser957Terfs) http://identifiers.org/clinvar/200202 ^@ NM_000138.4(FBN1):c.8198C>G (p.Thr2733Arg) http://identifiers.org/clinvar/200086 ^@ NM_000138.4(FBN1):c.6453C>G (p.Cys2151Trp) http://identifiers.org/clinvar/200032 ^@ NM_000138.4(FBN1):c.4050C>A (p.Cys1350Ter) http://identifiers.org/clinvar/199976 ^@ NM_000138.4(FBN1):c.1694G>A (p.Arg565Gln) http://identifiers.org/clinvar/200146 ^@ NM_000138.4(FBN1):c.803_811delCTTTTGAGT (p.Ser268_Glu270del) http://identifiers.org/clinvar/199807 ^@ NM_001943.4(DSG2):c.1195G>A (p.Glu399Lys) http://identifiers.org/clinvar/202133 ^@ NM_024334.2(TMEM43):c.424G>C (p.Glu142Gln) http://identifiers.org/clinvar/202188 ^@ NM_000284.3(PDHA1):c.422G>A (p.Arg141Gln) http://identifiers.org/clinvar/202238 ^@ NC_000016.9:g.(?_6344789)_(6673241_?)dup http://identifiers.org/clinvar/203082 ^@ NM_001256850.1(TTN):c.99596G>A (p.Arg33199Gln) http://identifiers.org/clinvar/203032 ^@ NM_001256850.1(TTN):c.92683G>T (p.Val30895Leu) http://identifiers.org/clinvar/202982 ^@ NM_001256850.1(TTN):c.86491A>T (p.Asn28831Tyr) http://identifiers.org/clinvar/202932 ^@ NM_001256850.1(TTN):c.81079A>G (p.Ile27027Val) http://identifiers.org/clinvar/202882 ^@ NM_001256850.1(TTN):c.73019C>G (p.Pro24340Arg) http://identifiers.org/clinvar/202471 ^@ NM_001256850.1(TTN):c.72254delG (p.Gly24085Valfs) http://identifiers.org/clinvar/202832 ^@ NM_001256850.1(TTN):c.66356G>T (p.Ser22119Ile) http://identifiers.org/clinvar/231910 ^@ NM_000038.5(APC):c.4365T>C (p.Asn1455=) http://identifiers.org/clinvar/233903 ^@ NM_000038.5(APC):c.5292G>C (p.Gln1764His) http://identifiers.org/clinvar/234053 ^@ NM_000038.5(APC):c.7615C>T (p.Leu2539Phe) http://identifiers.org/clinvar/231410 ^@ NM_000038.5(APC):c.7932T>C (p.Ile2644=) http://identifiers.org/clinvar/234103 ^@ NM_005732.3(RAD50):c.1692C>G (p.Thr564=) http://identifiers.org/clinvar/232650 ^@ NM_000535.6(PMS2):c.2137C>T (p.Gln713Ter) http://identifiers.org/clinvar/233100 ^@ NM_000535.6(PMS2):c.1576G>A (p.Asp526Asn) http://identifiers.org/clinvar/233150 ^@ NM_000535.6(PMS2):c.1373C>G (p.Thr458Ser) http://identifiers.org/clinvar/233300 ^@ NM_000535.6(PMS2):c.325dupG (p.Glu109Glyfs) http://identifiers.org/clinvar/231310 ^@ NM_000535.6(PMS2):c.14A>T (p.Glu5Val) http://identifiers.org/clinvar/231710 ^@ NM_002485.4(NBN):c.1370A>G (p.Asn457Ser) http://identifiers.org/clinvar/233400 ^@ NM_020975.4(RET):c.828C>G (p.Val276=) http://identifiers.org/clinvar/230910 ^@ NM_000314.6(PTEN):c.949delG (p.Val317Tyrfs) http://identifiers.org/clinvar/230760 ^@ NM_000051.3(ATM):c.719T>G (p.Leu240Arg) http://identifiers.org/clinvar/231510 ^@ NM_000051.3(ATM):c.951T>G (p.Asp317Glu) http://identifiers.org/clinvar/231660 ^@ NM_000051.3(ATM):c.1768G>T (p.Glu590Ter) http://identifiers.org/clinvar/232060 ^@ NM_000051.3(ATM):c.6999A>G (p.Thr2333=) http://identifiers.org/clinvar/233752 ^@ NM_000051.3(ATM):c.8422G>A (p.Val2808Met) http://identifiers.org/clinvar/231160 ^@ NM_000051.3(ATM):c.9049C>T (p.Leu3017=) http://identifiers.org/clinvar/232700 ^@ NM_005591.3(MRE11):c.1074A>G (p.Pro358=) http://identifiers.org/clinvar/233600 ^@ NM_000059.3(BRCA2):c.2151T>A (p.Cys717Ter) http://identifiers.org/clinvar/233953 ^@ NM_000059.3(BRCA2):c.4447delA (p.Thr1483Glnfs) http://identifiers.org/clinvar/232850 ^@ NM_000059.3(BRCA2):c.4460_4461delAA (p.Lys1487Thrfs) http://identifiers.org/clinvar/230860 ^@ NM_000059.3(BRCA2):c.6450A>C (p.Lys2150Asn) http://identifiers.org/clinvar/233050 ^@ NM_000059.3(BRCA2):c.8849A>G (p.Lys2950Arg) http://identifiers.org/clinvar/233350 ^@ NM_000059.3(BRCA2):c.9135A>G (p.Leu3045=) http://identifiers.org/clinvar/233802 ^@ NM_000548.4(TSC2):c.2239C>A (p.Leu747Met) http://identifiers.org/clinvar/231110 ^@ NM_000548.4(TSC2):c.2370C>T (p.Tyr790=) http://identifiers.org/clinvar/230710 ^@ NM_001042492.2(NF1):c.747A>G (p.Leu249=) http://identifiers.org/clinvar/230660 ^@ NM_001042492.2(NF1):c.1584delG (p.Leu529Serfs) http://identifiers.org/clinvar/231610 ^@ NM_001042492.2(NF1):c.1972C>T (p.Leu658Phe) http://identifiers.org/clinvar/233450 ^@ NM_001042492.2(NF1):c.2643G>A (p.Met881Ile) http://identifiers.org/clinvar/234003 ^@ NM_001042492.2(NF1):c.3903G>A (p.Leu1301=) http://identifiers.org/clinvar/231810 ^@ NM_001042492.2(NF1):c.6801A>G (p.Ile2267Met) http://identifiers.org/clinvar/231210 ^@ NM_002878.3(RAD51D):c.*4G>A http://identifiers.org/clinvar/231010 ^@ NM_002878.3(RAD51D):c.945G>A (p.Gly315=) http://identifiers.org/clinvar/233200 ^@ NM_002878.3(RAD51D):c.609G>T (p.Val203=) http://identifiers.org/clinvar/233853 ^@ NM_007294.3(BRCA1):c.2973A>C (p.Lys991Asn) http://identifiers.org/clinvar/233500 ^@ NM_007294.3(BRCA1):c.1717T>C (p.Ser573Pro) http://identifiers.org/clinvar/231260 ^@ NM_032043.2(BRIP1):c.983T>C (p.Phe328Ser) http://identifiers.org/clinvar/231060 ^@ NM_000546.5(TP53):c.818G>C (p.Arg273Pro) http://identifiers.org/clinvar/233700 ^@ NM_000546.5(TP53):c.321C>T (p.Tyr107=) http://identifiers.org/clinvar/233650 ^@ NM_000546.5(TP53):c.273G>A (p.Trp91Ter) http://identifiers.org/clinvar/232750 ^@ NM_000546.5(TP53):c.214C>A (p.Pro72Thr) http://identifiers.org/clinvar/233550 ^@ NM_007194.3(CHEK2):c.442A>G (p.Arg148Gly) http://identifiers.org/clinvar/235625 ^@ NM_000527.4(LDLR):c.67+18C>A http://identifiers.org/clinvar/235678 ^@ NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) http://identifiers.org/clinvar/235741 ^@ NM_020812.3(DOCK6):c.4216T>G (p.Ser1406Ala) http://identifiers.org/clinvar/235813 ^@ NM_001127464.2(ZNF469):c.3566C>T (p.Pro1189Leu) http://identifiers.org/clinvar/235887 ^@ NM_003718.4(CDK13):c.2525A>G (p.Asn842Ser) http://identifiers.org/clinvar/236049 ^@ NM_206933.2(USH2A):c.9685delG (p.Glu3229Argfs) http://identifiers.org/clinvar/236149 ^@ NM_000350.2(ABCA4):c.6647C>T (p.Ala2216Val) http://identifiers.org/clinvar/236099 ^@ NM_000350.2(ABCA4):c.3093delA (p.Gly1032Glufs) http://identifiers.org/clinvar/236207 ^@ NM_014191.3(SCN8A):c.800T>C (p.Leu267Ser) http://identifiers.org/clinvar/236287 ^@ NM_198578.3(LRRK2):c.1132C>T (p.Leu378Phe) http://identifiers.org/clinvar/236338 ^@ NC_000016.8:g.76830780_76944805del114026 http://identifiers.org/clinvar/236388 ^@ NC_000007.13:g.69450234_69638393del188160 http://identifiers.org/clinvar/236539 ^@ NM_206933.2(USH2A):c.2661C>G (p.Tyr887Ter) http://identifiers.org/clinvar/236439 ^@ NM_006204.3(PDE6C):c.1894A>T (p.Arg632Trp) http://identifiers.org/clinvar/236489 ^@ NM_006915.2(RP2):c.260_268delCTAACTGCA (p.Thr87_Cys89del) http://identifiers.org/clinvar/239449 ^@ NM_003001.3(SDHC):c.164A>G (p.His55Arg) http://identifiers.org/clinvar/239549 ^@ NM_003680.3(YARS):c.63T>C (p.Val21=) http://identifiers.org/clinvar/241939 ^@ NM_145038.4(DRC1):c.2166+6C>T http://identifiers.org/clinvar/239799 ^@ NM_004304.4(ALK):c.2011C>T (p.Pro671Ser) http://identifiers.org/clinvar/239849 ^@ NM_004304.4(ALK):c.702T>G (p.Pro234=) http://identifiers.org/clinvar/239146 ^@ NM_002354.2(EPCAM):c.99G>A (p.Lys33=) http://identifiers.org/clinvar/241739 ^@ NM_033084.4(FANCD2):c.4303_4310delGAGTCTGG (p.Glu1435Hisfs) http://identifiers.org/clinvar/240049 ^@ NM_004656.3(BAP1):c.1548G>A (p.Pro516=) http://identifiers.org/clinvar/242189 ^@ NM_183075.2(CYP2U1):c.515C>T (p.Pro172Leu) http://identifiers.org/clinvar/240300 ^@ NM_006206.4(PDGFRA):c.1283C>G (p.Thr428Ser) http://identifiers.org/clinvar/236589 ^@ NM_000038.5(APC):c.3340C>T (p.Arg1114Ter) http://identifiers.org/clinvar/242239 ^@ NM_198253.2(TERT):c.3333G>A (p.Thr1111=) http://identifiers.org/clinvar/239649 ^@ NM_004168.3(SDHA):c.1432+7G>C http://identifiers.org/clinvar/238895 ^@ NM_001277115.1(DNAH11):c.126G>A (p.Glu42=) http://identifiers.org/clinvar/238945 ^@ NM_001277115.1(DNAH11):c.9732C>G (p.Phe3244Leu) http://identifiers.org/clinvar/259899 ^@ NM_006005.3(WFS1):c.2623G>A (p.Val875Met) http://identifiers.org/clinvar/258059 ^@ NM_001369.2(DNAH5):c.7752+24C>T http://identifiers.org/clinvar/258009 ^@ NM_001369.2(DNAH5):c.2067T>C (p.His689=) http://identifiers.org/clinvar/260049 ^@ NM_006846.3(SPINK5):c.2132G>A (p.Arg711Gln) http://identifiers.org/clinvar/263038 ^@ NM_182925.4(FLT4):c.2543-14C>T http://identifiers.org/clinvar/259248 ^@ NM_004168.3(SDHA):c.771-11A>G http://identifiers.org/clinvar/262188 ^@ NM_033071.3(SYNE1):c.23415-45T>C http://identifiers.org/clinvar/262388 ^@ NM_138694.3(PKHD1):c.130+9G>A http://identifiers.org/clinvar/258359 ^@ NM_001851.4(COL9A1):c.2470C>A (p.Pro824Thr) http://identifiers.org/clinvar/259348 ^@ NM_004370.5(COL12A1):c.7898T>C (p.Val2633Ala) http://identifiers.org/clinvar/260349 ^@ NM_014141.5(CNTNAP2):c.3476-15C>A http://identifiers.org/clinvar/257909 ^@ NM_001277115.1(DNAH11):c.5511G>A (p.Trp1837Ter) http://identifiers.org/clinvar/257859 ^@ NM_001277115.1(DNAH11):c.12196-12C>G http://identifiers.org/clinvar/259198 ^@ NM_003919.2(SGCE):c.391-43A>C http://identifiers.org/clinvar/258998 ^@ NM_003235.4(TG):c.6200-7T>A http://identifiers.org/clinvar/259799 ^@ NM_005592.3(MUSK):c.1189T>C (p.Tyr397His) http://identifiers.org/clinvar/260149 ^@ NM_007171.3(POMT1):c.428-21T>C http://identifiers.org/clinvar/262438 ^@ NM_139025.4(ADAMTS13):c.2910C>T (p.Val970=) http://identifiers.org/clinvar/255060 ^@ NM_000093.4(COL5A1):c.2034+24C>T http://identifiers.org/clinvar/262538 ^@ NM_144966.5(FREM1):c.3657A>G (p.Ala1219=) http://identifiers.org/clinvar/260199 ^@ NM_012144.3(DNAI1):c.1365A>G (p.Ser455=) http://identifiers.org/clinvar/259548 ^@ NM_004817.3(TJP2):c.-16G>T http://identifiers.org/clinvar/262838 ^@ NM_173551.4(ANKS6):c.1134T>C (p.Tyr378=) http://identifiers.org/clinvar/260249 ^@ NM_012330.3(KAT6B):c.5967C>T (p.Leu1989=) http://identifiers.org/clinvar/261988 ^@ NM_032024.4(C10orf11):c.21delC (p.Ser8Alafs) http://identifiers.org/clinvar/262738 ^@ NM_153676.3(USH1C):c.580-27G>A http://identifiers.org/clinvar/262988 ^@ NM_181507.1(HPS5):c.824+34A>C http://identifiers.org/clinvar/259749 ^@ NM_005343.3(HRAS):c.57G>C (p.Leu19=) http://identifiers.org/clinvar/261788 ^@ NM_024809.4(TCTN2):c.1612+13C>T http://identifiers.org/clinvar/258209 ^@ NM_001844.4(COL2A1):c.1287T>C (p.Gly429=) http://identifiers.org/clinvar/261838 ^@ NM_025114.3(CEP290):c.2554C>A (p.Gln852Lys) http://identifiers.org/clinvar/258259 ^@ NM_001845.5(COL4A1):c.4797G>A (p.Ala1599=) http://identifiers.org/clinvar/257559 ^@ NM_001145.4(ANG):c.330T>G (p.Gly110=) http://identifiers.org/clinvar/260299 ^@ NM_013382.5(POMT2):c.1912C>A (p.Arg638=) http://identifiers.org/clinvar/332494 ^@ NM_002148.3(HOXD10):c.*231_*234dupTATA http://identifiers.org/clinvar/335635 ^@ NM_001029883.2(C2orf71):c.*27G>A http://identifiers.org/clinvar/332894 ^@ NM_133378.4(TTN):c.27724A>T (p.Ile9242Phe) http://identifiers.org/clinvar/334985 ^@ NM_000751.2(CHRND):c.*547G>C http://identifiers.org/clinvar/332594 ^@ NM_003659.3(AGPS):c.*4618A>G http://identifiers.org/clinvar/335735 ^@ NM_000379.3(XDH):c.*1494A>G http://identifiers.org/clinvar/335785 ^@ NM_000379.3(XDH):c.1686+8C>T http://identifiers.org/clinvar/335185 ^@ NM_004544.3(NDUFA10):c.*1011A>G http://identifiers.org/clinvar/332844 ^@ NM_133378.4(TTN):c.44358C>A (p.Asp14786Glu) http://identifiers.org/clinvar/335335 ^@ NM_152783.4(D2HGDH):c.*411dupG http://identifiers.org/clinvar/332944 ^@ NM_133378.4(TTN):c.7891G>A (p.Val2631Ile) http://identifiers.org/clinvar/335385 ^@ NM_000182.4(HADHA):c.585T>A (p.Pro195=) http://identifiers.org/clinvar/332994 ^@ NM_201548.4(CERKL):c.*472A>T http://identifiers.org/clinvar/333394 ^@ NM_001006657.1(WDR35):c.1283A>T (p.Asp428Val) http://identifiers.org/clinvar/333444 ^@ NM_032977.3(CASP10):c.*136A>G http://identifiers.org/clinvar/333144 ^@ NM_000393.4(COL5A2):c.1923+8T>C http://identifiers.org/clinvar/335585 ^@ NM_001029883.2(C2orf71):c.*2442G>A http://identifiers.org/clinvar/335685 ^@ NM_004304.4(ALK):c.*45G>A http://identifiers.org/clinvar/333294 ^@ NM_007315.3(STAT1):c.-140G>C http://identifiers.org/clinvar/333744 ^@ NM_012092.3(ICOS):c.*855T>C http://identifiers.org/clinvar/335885 ^@ NM_014946.3(SPAST):c.*2589T>G http://identifiers.org/clinvar/335935 ^@ NM_000104.3(CYP1B1):c.*981T>C http://identifiers.org/clinvar/333544 ^@ NM_001044385.2(TMEM237):c.*2141C>T http://identifiers.org/clinvar/336942 ^@ NM_003494.3(DYSF):c.222G>A (p.Thr74=) http://identifiers.org/clinvar/336392 ^@ NM_139279.5(MCFD2):c.-95C>G http://identifiers.org/clinvar/334735 ^@ NM_000092.4(COL4A4):c.816+12A>T http://identifiers.org/clinvar/334885 ^@ NM_025243.3(SLC19A3):c.-60C>T http://identifiers.org/clinvar/335085 ^@ NM_000463.2(UGT1A1):c.*339G>C http://identifiers.org/clinvar/334835 ^@ NM_025243.3(SLC19A3):c.*2104T>C http://identifiers.org/clinvar/335485 ^@ NM_000221.2(KHK):c.210-5A>G http://identifiers.org/clinvar/335535 ^@ NM_015636.3(EIF2B4):c.1307G>T (p.Cys436Phe) http://identifiers.org/clinvar/343771 ^@ NM_000096.3(CP):c.1309A>G (p.Lys437Glu) http://identifiers.org/clinvar/344021 ^@ NM_001041.3(SI):c.4026A>G (p.Thr1342=) http://identifiers.org/clinvar/344121 ^@ NM_005025.4(SERPINI1):c.106C>A (p.Arg36Ser) http://identifiers.org/clinvar/350690 ^@ NM_032446.2(MEGF10):c.*1410G>T http://identifiers.org/clinvar/354587 ^@ NM_002397.4(MEF2C):c.-17G>C http://identifiers.org/clinvar/354637 ^@ NM_000439.4(PCSK1):c.2253G>A (p.Glu751=) http://identifiers.org/clinvar/354837 ^@ NM_007214.4(SEC63):c.*2876T>C http://identifiers.org/clinvar/350890 ^@ NM_000358.2(TGFBI):c.1513G>A (p.Val505Ile) http://identifiers.org/clinvar/357727 ^@ NM_001142800.1(EYS):c.2613C>T (p.Asp871=) http://identifiers.org/clinvar/357777 ^@ NM_018368.3(LMBRD1):c.384T>C (p.Asp128=) http://identifiers.org/clinvar/350840 ^@ NM_014402.4(UQCRQ):c.*18C>T http://identifiers.org/clinvar/351040 ^@ NM_001369.2(DNAH5):c.10983T>A (p.Asp3661Glu) http://identifiers.org/clinvar/350990 ^@ NM_017415.2(KLHL3):c.904-5C>T http://identifiers.org/clinvar/355087 ^@ NM_000493.3(COL10A1):c.*157A>G http://identifiers.org/clinvar/351090 ^@ NM_001369.2(DNAH5):c.5472C>T (p.Ser1824=) http://identifiers.org/clinvar/351240 ^@ NM_002109.5(HARS):c.382C>T (p.Arg128Cys) http://identifiers.org/clinvar/351140 ^@ NM_001369.2(DNAH5):c.4054-4T>C http://identifiers.org/clinvar/351290 ^@ NM_005219.4(DIAPH1):c.2032C>T (p.Pro678Ser) http://identifiers.org/clinvar/358666 ^@ NM_014491.3(FOXP2):c.*3457G>A http://identifiers.org/clinvar/358716 ^@ NM_001127500.2(MET):c.*1326A>G http://identifiers.org/clinvar/351640 ^@ NM_024577.3(SH3TC2):c.*16257T>C http://identifiers.org/clinvar/351390 ^@ NM_054027.4(ANKH):c.*6129G>A http://identifiers.org/clinvar/358816 ^@ NM_000230.2(LEP):c.144+15C>T http://identifiers.org/clinvar/351540 ^@ NM_006846.3(SPINK5):c.2905A>G (p.Lys969Glu) http://identifiers.org/clinvar/355977 ^@ NM_032122.4(DTNBP1):c.-142G>A http://identifiers.org/clinvar/351740 ^@ NM_024577.3(SH3TC2):c.*9357T>G http://identifiers.org/clinvar/359216 ^@ NM_014141.5(CNTNAP2):c.*1249G>A http://identifiers.org/clinvar/356027 ^@ NM_003730.4(RNASET2):c.706C>T (p.Arg236Trp) http://identifiers.org/clinvar/359566 ^@ NM_001101426.3(ISPD):c.*988G>T http://identifiers.org/clinvar/356477 ^@ NM_003322.5(TULP1):c.26G>A (p.Arg9Gln) http://identifiers.org/clinvar/359866 ^@ NM_018947.5(CYCS):c.*4818C>T http://identifiers.org/clinvar/356877 ^@ NM_203290.3(POLR1C):c.598G>A (p.Ala200Thr) http://identifiers.org/clinvar/356927 ^@ NM_006502.2(POLH):c.*871G>A http://identifiers.org/clinvar/360316 ^@ NM_014855.2(AP5Z1):c.702C>T (p.Asp234=) http://identifiers.org/clinvar/357027 ^@ NM_020745.3(AARS2):c.*1603C>G http://identifiers.org/clinvar/357277 ^@ NM_003221.3(TFAP2B):c.540+28_540+31dupCAAA http://identifiers.org/clinvar/352948 ^@ NM_022455.4(NSD1):c.*4604C>T http://identifiers.org/clinvar/357377 ^@ NM_138694.3(PKHD1):c.*1933G>A http://identifiers.org/clinvar/357427 ^@ NM_138694.3(PKHD1):c.8068T>C (p.Trp2690Arg) http://identifiers.org/clinvar/357827 ^@ NM_014989.5(RIMS1):c.-13G>T http://identifiers.org/clinvar/357877 ^@ NM_014989.5(RIMS1):c.*1025G>T http://identifiers.org/clinvar/361665 ^@ NM_000127.2(EXT1):c.-129A>G http://identifiers.org/clinvar/361715 ^@ NM_014846.3(WASHC5):c.2850+4T>C http://identifiers.org/clinvar/353787 ^@ NM_002203.3(ITGA2):c.*95dupT http://identifiers.org/clinvar/361815 ^@ NM_004519.3(KCNQ3):c.*3957A>G http://identifiers.org/clinvar/363754 ^@ NM_018972.2(GDAP1):c.*1923C>T http://identifiers.org/clinvar/363854 ^@ NM_019098.4(CNGB3):c.*798A>C http://identifiers.org/clinvar/299907 ^@ NM_020975.4(RET):c.*368G>T http://identifiers.org/clinvar/306511 ^@ NM_016156.5(MTMR2):c.*1568C>T http://identifiers.org/clinvar/306561 ^@ NM_030962.3(SBF2):c.*875G>A http://identifiers.org/clinvar/306661 ^@ NM_139319.2(SLC17A8):c.*1716C>T http://identifiers.org/clinvar/300207 ^@ NM_033056.3(PCDH15):c.-155G>C http://identifiers.org/clinvar/306761 ^@ NM_153694.4(SYCP3):c.*183A>G http://identifiers.org/clinvar/307061 ^@ NM_052845.3(MMAB):c.*378_*379dupTG http://identifiers.org/clinvar/307111 ^@ NM_000431.3(MVK):c.*660G>A http://identifiers.org/clinvar/300457 ^@ NM_022124.5(CDH23):c.7661-9C>T http://identifiers.org/clinvar/307161 ^@ NM_001681.3(ATP2A2):c.136+11C>T http://identifiers.org/clinvar/307211 ^@ NM_000432.3(MYL2):c.*102C>A http://identifiers.org/clinvar/307261 ^@ NM_002834.4(PTPN11):c.*3244A>G http://identifiers.org/clinvar/300557 ^@ NM_004273.4(CHST3):c.276C>A (p.Ser92Arg) http://identifiers.org/clinvar/307411 ^@ NM_014365.2(HSPB8):c.-457A>G http://identifiers.org/clinvar/300657 ^@ NM_004273.4(CHST3):c.*3884A>G http://identifiers.org/clinvar/300707 ^@ NM_016065.3(MRPS16):c.*566A>G http://identifiers.org/clinvar/300907 ^@ NM_012330.3(KAT6B):c.*325A>G http://identifiers.org/clinvar/308600 ^@ NM_017641.3(KIF21A):c.-203C>G http://identifiers.org/clinvar/308750 ^@ NM_016123.3(IRAK4):c.*1435T>G http://identifiers.org/clinvar/309000 ^@ NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) http://identifiers.org/clinvar/301696 ^@ NM_016341.3(PLCE1):c.1389G>A (p.Ser463=) http://identifiers.org/clinvar/309200 ^@ NM_000217.2(KCNA1):c.*3268C>T http://identifiers.org/clinvar/309250 ^@ NM_000486.5(AQP2):c.*1207T>C http://identifiers.org/clinvar/309450 ^@ NM_000020.2(ACVRL1):c.*242A>G http://identifiers.org/clinvar/302046 ^@ NM_001080463.1(DYNC2H1):c.5511C>T (p.Asp1837=) http://identifiers.org/clinvar/309850 ^@ NM_001029.3(RPS26):c.-209T>G http://identifiers.org/clinvar/302296 ^@ NM_000051.3(ATM):c.*3198T>G http://identifiers.org/clinvar/302396 ^@ NM_024740.2(ALG9):c.*2010_*2011delAA http://identifiers.org/clinvar/302546 ^@ NM_001558.3(IL10RA):c.459A>G (p.Ala153=) http://identifiers.org/clinvar/310300 ^@ NM_021150.3(GRIP1):c.2714G>A (p.Arg905His) http://identifiers.org/clinvar/314483 ^@ NM_004452.3(ESRRB):c.239C>T (p.Ala80Val) http://identifiers.org/clinvar/322268 ^@ NM_000430.3(PAFAH1B1):c.*468C>A http://identifiers.org/clinvar/314683 ^@ NM_004863.3(SPTLC2):c.-37C>T http://identifiers.org/clinvar/322318 ^@ NM_000430.3(PAFAH1B1):c.*3072T>C http://identifiers.org/clinvar/322568 ^@ NM_000267.3(NF1):c.730+16dupA http://identifiers.org/clinvar/322668 ^@ NM_000049.2(ASPA):c.905C>T (p.Thr302Met) http://identifiers.org/clinvar/315083 ^@ NM_177438.2(DICER1):c.*1048A>G http://identifiers.org/clinvar/341632 ^@ NM_003560.2(PLA2G6):c.*183_*187delCCGCC http://identifiers.org/clinvar/341782 ^@ NM_001429.3(EP300):c.684C>G (p.Pro228=) http://identifiers.org/clinvar/341882 ^@ NM_052945.3(TNFRSF13C):c.165G>A (p.Thr55=) http://identifiers.org/clinvar/341982 ^@ NM_006953.3(UPK3A):c.560G>A (p.Arg187His) http://identifiers.org/clinvar/313733 ^@ NM_000347.5(SPTB):c.4075C>T (p.Arg1359Trp) http://identifiers.org/clinvar/342032 ^@ NM_024105.3(ALG12):c.*450_*451delAG http://identifiers.org/clinvar/323318 ^@ NM_032387.4(WNK4):c.1477-13A>G http://identifiers.org/clinvar/323368 ^@ NM_000151.3(G6PC):c.*211T>C http://identifiers.org/clinvar/313933 ^@ NM_015346.3(ZFYVE26):c.81A>T (p.Gly27=) http://identifiers.org/clinvar/314133 ^@ NM_031427.3(DNAL1):c.*6324G>A http://identifiers.org/clinvar/367933 ^@ NM_004840.2(ARHGEF6):c.*220T>G http://identifiers.org/clinvar/314183 ^@ NM_005589.3(ALDH6A1):c.186+6C>T http://identifiers.org/clinvar/368033 ^@ NM_001018113.2(FANCB):c.357A>T (p.Glu119Asp) http://identifiers.org/clinvar/368133 ^@ NM_171998.3(RAB39B):c.*1656T= http://identifiers.org/clinvar/314383 ^@ NM_001040108.1(MLH3):c.2390G>A (p.Arg797His) http://identifiers.org/clinvar/314533 ^@ NM_013382.5(POMT2):c.*1058G>A http://identifiers.org/clinvar/324416 ^@ NM_000789.3(ACE):c.3380+5C>T http://identifiers.org/clinvar/324466 ^@ NM_000334.4(SCN4A):c.*2072G>A http://identifiers.org/clinvar/314783 ^@ NM_018418.4(SPATA7):c.546T>C (p.Ser182=) http://identifiers.org/clinvar/324716 ^@ NM_031220.3(PITPNM3):c.*2024_*2025delGA http://identifiers.org/clinvar/324766 ^@ NM_031220.3(PITPNM3):c.274+14G>T http://identifiers.org/clinvar/314933 ^@ NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) http://identifiers.org/clinvar/324816 ^@ NM_002734.4(PRKAR1A):c.*2018C>T http://identifiers.org/clinvar/314983 ^@ NM_004239.4(TRIP11):c.-58C>T http://identifiers.org/clinvar/324866 ^@ NM_000891.2(KCNJ2):c.*1720_*1721dupTT http://identifiers.org/clinvar/325116 ^@ NM_000747.2(CHRNB1):c.*778C>T http://identifiers.org/clinvar/325316 ^@ NM_004035.6(ACOX1):c.*4039G>T http://identifiers.org/clinvar/315183 ^@ NM_139057.3(ADAMTS17):c.*1490C>T http://identifiers.org/clinvar/372829 ^@ NM_004980.4(KCND3):c.1195G>C (p.Val399Leu) http://identifiers.org/clinvar/373233 ^@ NM_001114748.1(TMEM240):c.373G>A (p.Asp125Asn) http://identifiers.org/clinvar/373583 ^@ NM_003036.3(SKI):c.1420C>G (p.Pro474Ala) http://identifiers.org/clinvar/373033 ^@ NM_014795.3(ZEB2):c.2100C>G (p.Tyr700Ter) http://identifiers.org/clinvar/373283 ^@ NM_021007.2(SCN2A):c.1199C>G (p.Thr400Arg) http://identifiers.org/clinvar/373533 ^@ NM_001165963.1(SCN1A):c.2404G>A (p.Val802Ile) http://identifiers.org/clinvar/373433 ^@ NM_145693.3(LPIN1):c.2054+5G>A http://identifiers.org/clinvar/372414 ^@ NM_000179.2(MSH6):c.3573dupT (p.Val1192Cysfs) http://identifiers.org/clinvar/372623 ^@ NM_005633.3(SOS1):c.3329C>T (p.Ser1110Leu) http://identifiers.org/clinvar/372675 ^@ NM_005633.3(SOS1):c.1859A>G (p.Asp620Gly) http://identifiers.org/clinvar/372983 ^@ NM_000460.3(THPO):c.247G>A (p.Asp83Asn) http://identifiers.org/clinvar/373483 ^@ NM_000203.4(IDUA):c.1118A>C (p.Asn373Thr) http://identifiers.org/clinvar/372880 ^@ NM_001069.2(TUBB2A):c.1240A>C (p.Asn414His) http://identifiers.org/clinvar/373633 ^@ NM_019892.5(INPP5E):c.1652C>T (p.Thr551Met) http://identifiers.org/clinvar/373383 ^@ NM_020732.3(ARID1B):c.3016_3020dupAGCTC (p.Ala1009Argfs) http://identifiers.org/clinvar/372468 ^@ NM_000535.6(PMS2):c.445delT (p.Tyr149Thrfs) http://identifiers.org/clinvar/372573 ^@ NM_000059.3(BRCA2):c.8557A>T (p.Lys2853Ter) http://identifiers.org/clinvar/372313 ^@ NM_000719.6(CACNA1C):c.1553G>A (p.Arg518His) http://identifiers.org/clinvar/373333 ^@ NM_014191.3(SCN8A):c.2533T>C (p.Ser845Pro) http://identifiers.org/clinvar/373683 ^@ NM_002470.3(MYH3):c.2389C>T (p.Leu797Phe) http://identifiers.org/clinvar/372521 ^@ NM_139276.2(STAT3):c.1919A>T (p.Tyr640Phe) http://identifiers.org/clinvar/373133 ^@ NM_001242896.1(DEPDC5):c.4513G>A (p.Val1505Ile) http://identifiers.org/clinvar/372363 ^@ NM_001429.3(EP300):c.4783T>G (p.Phe1595Val) http://identifiers.org/clinvar/372933 ^@ NM_005629.3(SLC6A8):c.1319G>A (p.Arg440His) http://identifiers.org/clinvar/372777 ^@ NM_000444.5(PHEX):c.1736G>T (p.Gly579Val) http://identifiers.org/clinvar/372727 ^@ NM_004586.2(RPS6KA3):c.356G>C (p.Arg119Pro) http://identifiers.org/clinvar/373183 ^@ NM_001111125.2(IQSEC2):c.248C>T (p.Pro83Leu) http://identifiers.org/clinvar/373083 ^@ NM_153252.4(BRWD3):c.2598_2601dupAAAT (p.Leu868Lysfs) http://identifiers.org/clinvar/375380 ^@ NM_004963.3(GUCY2C):c.410T>C (p.Leu137Ser) http://identifiers.org/clinvar/375435 ^@ NC_000006.12:g.(?_1610445)_(1612107_?)del http://identifiers.org/clinvar/375504 ^@ NM_017929.5(PEX26):c.296G>A (p.Trp99Ter) http://identifiers.org/clinvar/375554 ^@ NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser) http://identifiers.org/clinvar/375621 ^@ NM_006772.2(SYNGAP1):c.1685delC (p.Pro562Argfs) http://identifiers.org/clinvar/375672 ^@ NM_152524.5(SGO2):c.1453_1454delGA (p.Glu485Lysfs) http://identifiers.org/clinvar/375766 ^@ NM_015295.2(SMCHD1):c.403A>T (p.Ser135Cys) http://identifiers.org/clinvar/375816 ^@ NM_000527.4(LDLR):c.1478delC (p.Ser493Leufs) http://identifiers.org/clinvar/375866 ^@ NM_053025.3(MYLK):c.3184G>T (p.Ala1062Ser) http://identifiers.org/clinvar/375919 ^@ NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) http://identifiers.org/clinvar/385334 ^@ NM_015120.4(ALMS1):c.876T>G (p.Ser292Arg) http://identifiers.org/clinvar/386973 ^@ NM_001135659.2(NRXN1):c.3667-18T>C http://identifiers.org/clinvar/381940 ^@ NM_002056.3(GFPT1):c.41G>A (p.Arg14Gln) http://identifiers.org/clinvar/388273 ^@ NM_007208.3(MRPL3):c.739-7C>T http://identifiers.org/clinvar/390212 ^@ NM_015120.4(ALMS1):c.7291A>G (p.Ser2431Gly) http://identifiers.org/clinvar/382692 ^@ NM_004369.3(COL6A3):c.4116C>T (p.Asn1372=) http://identifiers.org/clinvar/385834 ^@ NM_004321.7(KIF1A):c.1741+18G>A http://identifiers.org/clinvar/379396 ^@ NM_002880.3(RAF1):c.1272C>T (p.Cys424=) http://identifiers.org/clinvar/390412 ^@ NM_014049.4(ACAD9):c.1832A>G (p.Tyr611Cys) http://identifiers.org/clinvar/385384 ^@ NM_153240.4(NPHP3):c.2931A>G (p.Leu977=) http://identifiers.org/clinvar/390162 ^@ NM_001148.4(ANK2):c.6830A>G (p.Lys2277Arg) http://identifiers.org/clinvar/379246 ^@ NM_000038.5(APC):c.-30359C>G http://identifiers.org/clinvar/384834 ^@ NM_001080522.2(CC2D2A):c.3145C>A (p.Arg1049=) http://identifiers.org/clinvar/383482 ^@ NM_024592.4(SRD5A3):c.364+19T>C http://identifiers.org/clinvar/388673 ^@ NM_001182.4(ALDH7A1):c.1565+15T>C http://identifiers.org/clinvar/387773 ^@ NM_000038.5(APC):c.672C>T (p.Ile224=) http://identifiers.org/clinvar/384884 ^@ NM_033071.3(SYNE1):c.25485C>T (p.Gly8495=) http://identifiers.org/clinvar/392351 ^@ NM_004387.3(NKX2-5):c.827C>G (p.Ala276Gly) http://identifiers.org/clinvar/379496 ^@ NM_022455.4(NSD1):c.6010-1G>A http://identifiers.org/clinvar/381689 ^@ NM_033629.4(TREX1):c.667G>A (p.Ala223Thr) http://identifiers.org/clinvar/379696 ^@ NM_000094.3(COL7A1):c.8102G>T (p.Gly2701Val) http://identifiers.org/clinvar/388323 ^@ NM_001069.2(TUBB2A):c.189C>G (p.Ala63=) http://identifiers.org/clinvar/388773 ^@ NM_005654.5(NR2F1):c.531C>T (p.Asp177=) http://identifiers.org/clinvar/384934 ^@ NM_005045.3(RELN):c.4986C>G (p.Thr1662=) http://identifiers.org/clinvar/390662 ^@ NM_012470.3(TNPO3):c.120+9C>A http://identifiers.org/clinvar/388123 ^@ NM_014141.5(CNTNAP2):c.1349-13T>G http://identifiers.org/clinvar/380888 ^@ NM_024582.4(FAT4):c.12849T>C (p.Asp4283=) http://identifiers.org/clinvar/388723 ^@ NM_004415.3(DSP):c.561C>T (p.Val187=) http://identifiers.org/clinvar/384984 ^@ NM_001167734.1(VARS2):c.1323C>T (p.Ser441=) http://identifiers.org/clinvar/384784 ^@ NM_020320.4(RARS2):c.1616T>C (p.Leu539Pro) http://identifiers.org/clinvar/389712 ^@ NM_002291.2(LAMB1):c.3447C>T (p.Gly1149=) http://identifiers.org/clinvar/385434 ^@ NM_006567.4(FARS2):c.324G>A (p.Pro108=) http://identifiers.org/clinvar/387073 ^@ NM_018368.3(LMBRD1):c.405+8T>C http://identifiers.org/clinvar/385784 ^@ NM_000535.6(PMS2):c.324G>A (p.Gly108=) http://identifiers.org/clinvar/388473 ^@ NM_000089.3(COL1A2):c.2842C>A (p.Arg948Ser) http://identifiers.org/clinvar/389412 ^@ NM_012160.4(FBXL4):c.1353A>G (p.Ser451=) http://identifiers.org/clinvar/385134 ^@ NM_006096.3(NDRG1):c.732G>A (p.Pro244=) http://identifiers.org/clinvar/385734 ^@ NM_000118.3(ENG):c.1455G>A (p.Glu485=) http://identifiers.org/clinvar/392301 ^@ NM_000445.4(PLEC):c.8548C>T (p.Arg2850Cys) http://identifiers.org/clinvar/390712 ^@ NM_002485.4(NBN):c.584+7T>A http://identifiers.org/clinvar/387323 ^@ NM_000445.4(PLEC):c.258C>T (p.Ala86=) http://identifiers.org/clinvar/392401 ^@ NM_020822.2(KCNT1):c.3156+15T>C http://identifiers.org/clinvar/385084 ^@ NM_003165.3(STXBP1):c.326-4G>A http://identifiers.org/clinvar/381489 ^@ NM_000093.4(COL5A1):c.5370+14G>A http://identifiers.org/clinvar/392151 ^@ NM_004415.3(DSP):c.6047G>T (p.Gly2016Val) http://identifiers.org/clinvar/379546 ^@ NM_020320.4(RARS2):c.1338G>C (p.Lys446Asn) http://identifiers.org/clinvar/382140 ^@ NM_002291.2(LAMB1):c.3342C>T (p.Cys1114=) http://identifiers.org/clinvar/133026 ^@ NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) http://identifiers.org/clinvar/133076 ^@ NM_000540.2(RYR1):c.1453A>G (p.Met485Val) http://identifiers.org/clinvar/133126 ^@ NM_000540.2(RYR1):c.3418C>T (p.Arg1140Cys) http://identifiers.org/clinvar/133176 ^@ NM_000540.2(RYR1):c.7027+27C>T http://identifiers.org/clinvar/133226 ^@ NM_000540.2(RYR1):c.8518C>T (p.Arg2840Trp) http://identifiers.org/clinvar/134064 ^@ NM_001429.3(EP300):c.1403A>T (p.Tyr468Phe) http://identifiers.org/clinvar/134114 ^@ NM_000400.3(ERCC2):c.545C>T (p.Ala182Val) http://identifiers.org/clinvar/134164 ^@ NM_000123.3(ERCC5):c.2877A>C (p.Arg959Ser) http://identifiers.org/clinvar/134214 ^@ NM_207122.1(EXT2):c.896G>A (p.Arg299His) http://identifiers.org/clinvar/134264 ^@ NM_000135.2(FANCA):c.3263C>T (p.Ser1088Phe) http://identifiers.org/clinvar/134466 ^@ NM_001145661.1(GATA2):c.748C>G (p.Pro250Ala) http://identifiers.org/clinvar/134516 ^@ NM_001282386.1(IDH1):c.211G>A (p.Val71Ile) http://identifiers.org/clinvar/134566 ^@ NM_000215.3(JAK3):c.1561C>G (p.Leu521Val) http://identifiers.org/clinvar/134616 ^@ NM_002253.2(KDR):c.889G>A (p.Val297Ile) http://identifiers.org/clinvar/134668 ^@ NM_003482.3(KMT2D):c.2656C>A (p.Pro886Thr) http://identifiers.org/clinvar/134719 ^@ NM_003482.3(KMT2D):c.12980G>A (p.Ser4327Asn) http://identifiers.org/clinvar/134769 ^@ NM_170606.2(KMT2C):c.7259T>G (p.Leu2420Arg) http://identifiers.org/clinvar/134819 ^@ NM_005373.2(MPL):c.1621C>T (p.Gln541Ter) http://identifiers.org/clinvar/134873 ^@ NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr) http://identifiers.org/clinvar/134923 ^@ NM_017617.4(NOTCH1):c.64C>T (p.Pro22Ser) http://identifiers.org/clinvar/134973 ^@ NM_024408.3(NOTCH2):c.3995G>A (p.Arg1332His) http://identifiers.org/clinvar/135023 ^@ NM_006206.4(PDGFRA):c.86C>T (p.Ser29Phe) http://identifiers.org/clinvar/135074 ^@ NM_001198.3(PRDM1):c.220G>A (p.Gly74Ser) http://identifiers.org/clinvar/135125 ^@ NM_000321.2(RB1):c.920C>T (p.Thr307Ile) http://identifiers.org/clinvar/135176 ^@ NM_004260.3(RECQL4):c.1565G>A (p.Arg522His) http://identifiers.org/clinvar/135206 ^@ NM_014159.6(SETD2):c.6269G>A (p.Arg2090Gln) http://identifiers.org/clinvar/135257 ^@ NM_003073.4(SMARCB1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/135307 ^@ NM_001127208.2(TET2):c.899A>G (p.Asp300Gly) http://identifiers.org/clinvar/135357 ^@ NM_003820.3(TNFRSF14):c.797C>T (p.Thr266Met) http://identifiers.org/clinvar/135408 ^@ NM_000377.2(WAS):c.39_40delAGinsCC (p.Gly14Arg) http://identifiers.org/clinvar/135458 ^@ NM_000380.3(XPA):c.571C>G (p.Leu191Val) http://identifiers.org/clinvar/135508 ^@ NM_001321786.1(CBLB):c.71-1G>T http://identifiers.org/clinvar/135558 ^@ NM_001127500.2(MET):c.1701+75T>G http://identifiers.org/clinvar/135633 ^@ NM_017588.2(WDR5):c.19A>C (p.Lys7Gln) http://identifiers.org/clinvar/135693 ^@ NM_000038.5(APC):c.2640C>T (p.Ile880=) http://identifiers.org/clinvar/135744 ^@ NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) http://identifiers.org/clinvar/135801 ^@ NM_000059.3(BRCA2):c.5045G>C (p.Ser1682Thr) http://identifiers.org/clinvar/135853 ^@ NM_000249.3(MLH1):c.42A>C (p.Thr14=) http://identifiers.org/clinvar/135903 ^@ NM_000264.3(PTCH1):c.500C>A (p.Ala167Asp) http://identifiers.org/clinvar/135953 ^@ NM_000551.3(VHL):c.25G>A (p.Asp9Asn) http://identifiers.org/clinvar/136005 ^@ NM_001166110.1(PALLD):c.366G>C (p.Gln122His) http://identifiers.org/clinvar/136055 ^@ NM_004360.4(CDH1):c.1003C>T (p.Arg335Ter) http://identifiers.org/clinvar/136106 ^@ NM_020975.4(RET):c.2001A>T (p.Pro667=) http://identifiers.org/clinvar/136156 ^@ NM_058216.2(RAD51C):c.146-8A>G http://identifiers.org/clinvar/136217 ^@ NM_020745.3(AARS2):c.2440G>A (p.Val814Met) http://identifiers.org/clinvar/136267 ^@ NM_174917.4(ACSF3):c.1367-13C>G http://identifiers.org/clinvar/185908 ^@ NM_002878.3(RAD51D):c.621G>T (p.Ser207=) http://identifiers.org/clinvar/187349 ^@ NM_007294.3(BRCA1):c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp) http://identifiers.org/clinvar/187199 ^@ NM_007294.3(BRCA1):c.4151G>A (p.Gly1384Glu) http://identifiers.org/clinvar/183818 ^@ NM_000455.4(STK11):c.846C>G (p.Leu282=) http://identifiers.org/clinvar/187299 ^@ NM_000455.4(STK11):c.899delT (p.Ile300Thrfs) http://identifiers.org/clinvar/186108 ^@ NM_007194.3(CHEK2):c.600C>G (p.Val200=) http://identifiers.org/clinvar/186358 ^@ NM_007194.3(CHEK2):c.135G>A (p.Thr45=) http://identifiers.org/clinvar/187803 ^@ NM_002875.4(RAD51):c.406A>T (p.Ile136Phe) http://identifiers.org/clinvar/187882 ^@ NM_005957.4(MTHFR):c.764G>T (p.Gly255Val) http://identifiers.org/clinvar/187932 ^@ NM_004409.4(DMPK):c.*224_*226[181] http://identifiers.org/clinvar/187982 ^@ NM_004409.4(DMPK):c.*224_*226[437] http://identifiers.org/clinvar/188032 ^@ NM_004409.4(DMPK):c.*224_*226[814] http://identifiers.org/clinvar/188399 ^@ NM_000251.2(MSH2):c.261dupT (p.Val89Cysfs) http://identifiers.org/clinvar/188133 ^@ NM_000251.2(MSH2):c.1070A>C (p.Glu357Ala) http://identifiers.org/clinvar/188236 ^@ NM_176824.2(BBS7):c.2063A>G (p.Asn688Ser) http://identifiers.org/clinvar/188184 ^@ NM_001127500.2(MET):c.2963G>A (p.Arg988His) http://identifiers.org/clinvar/188289 ^@ NM_000264.3(PTCH1):c.3793G>A (p.Ala1265Thr) http://identifiers.org/clinvar/188082 ^@ NM_000264.3(PTCH1):c.3168+2T>C http://identifiers.org/clinvar/188342 ^@ NM_000546.5(TP53):c.1102C>T (p.His368Tyr) http://identifiers.org/clinvar/188552 ^@ NM_000256.3(MYBPC3):c.1513A>T (p.Lys505Ter) http://identifiers.org/clinvar/188652 ^@ NM_004572.3(PKP2):c.224-3C>G http://identifiers.org/clinvar/188602 ^@ NM_000257.3(MYH7):c.829C>G (p.Leu277Val) http://identifiers.org/clinvar/188452 ^@ NM_001943.4(DSG2):c.828_828+2delGGT http://identifiers.org/clinvar/188502 ^@ NM_001110792.1(MECP2):c.1197_1224del28 (p.Pro400Argfs) http://identifiers.org/clinvar/189004 ^@ NM_000228.2(LAMB3):c.1365_1366delCA (p.Asn456Argfs) http://identifiers.org/clinvar/189054 ^@ NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) http://identifiers.org/clinvar/188953 ^@ NM_000053.3(ATP7B):c.3244-2A>G http://identifiers.org/clinvar/188802 ^@ NM_000053.3(ATP7B):c.3007G>A (p.Ala1003Thr) http://identifiers.org/clinvar/188903 ^@ NM_000152.4(GAA):c.172C>T (p.Gln58Ter) http://identifiers.org/clinvar/188852 ^@ NM_000159.3(GCDH):c.1147C>T (p.Arg383Cys) http://identifiers.org/clinvar/228619 ^@ NM_014908.3(DOLK):c.725G>A (p.Ser242Asn) http://identifiers.org/clinvar/228369 ^@ NM_000256.3(MYBPC3):c.2504delG (p.Arg835Profs) http://identifiers.org/clinvar/228869 ^@ NM_000256.3(MYBPC3):c.821+3G>T http://identifiers.org/clinvar/228419 ^@ NM_005691.3(ABCC9):c.1933A>G (p.Lys645Glu) http://identifiers.org/clinvar/229119 ^@ NM_173591.3(OTOGL):c.3884A>T (p.His1295Leu) http://identifiers.org/clinvar/228919 ^@ NM_000257.3(MYH7):c.686C>T (p.Ala229Val) http://identifiers.org/clinvar/229269 ^@ NM_152594.2(SPRED1):c.587C>T (p.Thr196Ile) http://identifiers.org/clinvar/227969 ^@ NM_153700.2(STRC):c.4399G>A (p.Val1467Ile) http://identifiers.org/clinvar/229069 ^@ NM_144672.3(OTOA):c.96G>T (p.Leu32Phe) http://identifiers.org/clinvar/228969 ^@ NM_016239.3(MYO15A):c.8602-8_8602-5delTGAC http://identifiers.org/clinvar/229019 ^@ NM_003803.3(MYOM1):c.2383C>G (p.Arg795Gly) http://identifiers.org/clinvar/228819 ^@ NM_144612.6(LOXHD1):c.2696G>C (p.Arg899Pro) http://identifiers.org/clinvar/228519 ^@ NM_001146077.1(CLDN14):c.488C>T (p.Ala163Val) http://identifiers.org/clinvar/228269 ^@ NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) http://identifiers.org/clinvar/234536 ^@ NM_004360.4(CDH1):c.2273_2275delAAG (p.Glu758del) http://identifiers.org/clinvar/232950 ^@ NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) http://identifiers.org/clinvar/234485 ^@ NM_004655.3(AXIN2):c.1181G>A (p.Arg394His) http://identifiers.org/clinvar/230810 ^@ NM_001128425.1(MUTYH):c.1280G>T (p.Trp427Leu) http://identifiers.org/clinvar/231860 ^@ NM_001128425.1(MUTYH):c.131G>A (p.Ser44Asn) http://identifiers.org/clinvar/234153 ^@ NM_000251.2(MSH2):c.-68-44G>A http://identifiers.org/clinvar/231360 ^@ NM_000251.2(MSH2):c.374C>T (p.Pro125Leu) http://identifiers.org/clinvar/231760 ^@ NM_000251.2(MSH2):c.849T>C (p.Asp283=) http://identifiers.org/clinvar/230960 ^@ NM_000251.2(MSH2):c.2118C>A (p.Asp706Glu) http://identifiers.org/clinvar/233250 ^@ NM_000251.2(MSH2):c.2120G>C (p.Cys707Ser) http://identifiers.org/clinvar/232900 ^@ NM_000179.2(MSH6):c.772A>T (p.Ile258Phe) http://identifiers.org/clinvar/232010 ^@ NM_000179.2(MSH6):c.921T>C (p.Asn307=) http://identifiers.org/clinvar/231460 ^@ NM_000179.2(MSH6):c.1354A>C (p.Met452Leu) http://identifiers.org/clinvar/231560 ^@ NM_000249.3(MLH1):c.1090delA (p.Thr364Glnfs) http://identifiers.org/clinvar/233000 ^@ NM_000249.3(MLH1):c.1687A>G (p.Ile563Val) http://identifiers.org/clinvar/232800 ^@ NM_000038.5(APC):c.1743+1G>T http://identifiers.org/clinvar/231960 ^@ NM_000038.5(APC):c.2870A>G (p.Lys957Arg) http://identifiers.org/clinvar/264302 ^@ NM_005477.2(HCN4):c.3077G>A (p.Ser1026Asn) http://identifiers.org/clinvar/264085 ^@ NM_004006.2(DMD):c.1603-4C>G http://identifiers.org/clinvar/263735 ^@ NM_004006.2(DMD):c.1882_1884delCTT (p.Leu628del) http://identifiers.org/clinvar/265471 ^@ NM_022336.3(EDAR):c.1073G>A (p.Arg358Gln) http://identifiers.org/clinvar/265421 ^@ NM_002454.2(MTRR):c.1573C>T (p.Arg525Ter) http://identifiers.org/clinvar/265371 ^@ NM_000118.3(ENG):c.277C>T (p.Arg93Ter) http://identifiers.org/clinvar/265521 ^@ NM_000070.2(CAPN3):c.1115+5G>C http://identifiers.org/clinvar/265321 ^@ NM_000422.2(KRT17):c.290_292delCCT (p.Ser97del) http://identifiers.org/clinvar/265911 ^@ NM_174936.3(PCSK9):c.-287G>A http://identifiers.org/clinvar/265965 ^@ NM_003611.2(OFD1):c.62_63insT (p.Lys21Aspfs*8) http://identifiers.org/clinvar/266016 ^@ NM_000263.3(NAGLU):c.1944dupG (p.Trp649Valfs) http://identifiers.org/clinvar/266093 ^@ NM_025114.3(CEP290):c.673_674delTT (p.Leu225Asnfs) http://identifiers.org/clinvar/266643 ^@ NM_000059.3(BRCA2):c.1538_1541delAAGA (p.Lys513Argfs) http://identifiers.org/clinvar/266693 ^@ NM_000059.3(BRCA2):c.2271_2272delAA (p.Leu759Phefs) http://identifiers.org/clinvar/266743 ^@ NM_000059.3(BRCA2):c.3263dupC (p.Gln1089Serfs) http://identifiers.org/clinvar/266793 ^@ NM_000059.3(BRCA2):c.4146_4149delAGAT (p.Glu1382Aspfs) http://identifiers.org/clinvar/266843 ^@ NM_000059.3(BRCA2):c.5039_5040delCT (p.Ser1680Cysfs) http://identifiers.org/clinvar/266893 ^@ NM_000059.3(BRCA2):c.5723_5724delTA (p.Leu1908Argfs) http://identifiers.org/clinvar/266943 ^@ NM_000059.3(BRCA2):c.6385G>T (p.Glu2129Ter) http://identifiers.org/clinvar/266993 ^@ NM_000059.3(BRCA2):c.7212delA (p.Val2405Serfs) http://identifiers.org/clinvar/267043 ^@ NM_000059.3(BRCA2):c.7933A>T (p.Arg2645Ter) http://identifiers.org/clinvar/267093 ^@ NM_000059.3(BRCA2):c.8513T>G (p.Leu2838Ter) http://identifiers.org/clinvar/267143 ^@ NM_000059.3(BRCA2):c.9147C>A (p.Tyr3049Ter) http://identifiers.org/clinvar/266543 ^@ NM_007294.3(BRCA1):c.5300_5301delGT (p.Cys1767Leufs) http://identifiers.org/clinvar/266493 ^@ NM_007294.3(BRCA1):c.4743delA (p.Asp1582Thrfs) http://identifiers.org/clinvar/266343 ^@ NM_007294.3(BRCA1):c.3210dupA (p.Glu1071Argfs) http://identifiers.org/clinvar/266293 ^@ NM_007294.3(BRCA1):c.2687_2693delGTCCAAA (p.Ser896Lysfs) http://identifiers.org/clinvar/266243 ^@ NM_007294.3(BRCA1):c.2223dupT (p.Asn742Terfs) http://identifiers.org/clinvar/266193 ^@ NM_007294.3(BRCA1):c.1844_1845insG (p.Ser616Phefs) http://identifiers.org/clinvar/266143 ^@ NM_007294.3(BRCA1):c.1209_1210delTG (p.Glu404Ilefs) http://identifiers.org/clinvar/266393 ^@ NM_007294.3(BRCA1):c.361dupG (p.Glu121Glyfs) http://identifiers.org/clinvar/266593 ^@ NM_007294.3(BRCA1):c.93delC (p.Lys32Argfs) http://identifiers.org/clinvar/266443 ^@ NM_007294.3(BRCA1):c.40delG (p.Val14Serfs) http://identifiers.org/clinvar/267206 ^@ NM_001415.3(EIF2S3):c.777T>G (p.Ile259Met) http://identifiers.org/clinvar/267266 ^@ NM_003070.4(SMARCA2):c.2552A>G (p.Asp851Gly) http://identifiers.org/clinvar/267345 ^@ NC_000010.11:g.(?_87960841)_(87960878_?)del http://identifiers.org/clinvar/267414 ^@ NM_017780.3(CHD7):c.496C>T (p.Gln166Ter) http://identifiers.org/clinvar/268136 ^@ NM_005506.3(SCARB2):c.296delA (p.Asn99Ilefs) http://identifiers.org/clinvar/268207 ^@ NM_032504.1(UNC80):c.1806G>C (p.Gln602His) http://identifiers.org/clinvar/279615 ^@ NM_030957.3(ADAMTS10):c.2521T>C (p.Cys841Arg) http://identifiers.org/clinvar/290922 ^@ NM_001165928.3(DAG1):c.93G>T (p.Trp31Cys) http://identifiers.org/clinvar/290972 ^@ NM_024408.3(NOTCH2):c.6999G>A (p.Ala2333=) http://identifiers.org/clinvar/291022 ^@ NM_003742.2(ABCB11):c.1360G>T (p.Val454Leu) http://identifiers.org/clinvar/291072 ^@ NM_000747.2(CHRNB1):c.229G>A (p.Val77Met) http://identifiers.org/clinvar/291122 ^@ NM_004369.3(COL6A3):c.9096G>C (p.Leu3032=) http://identifiers.org/clinvar/291173 ^@ NM_004006.2(DMD):c.2508T>C (p.Tyr836=) http://identifiers.org/clinvar/291223 ^@ NM_000152.4(GAA):c.2109C>T (p.Tyr703=) http://identifiers.org/clinvar/291273 ^@ NM_052985.3(IFT122):c.41+15G>T http://identifiers.org/clinvar/291388 ^@ NM_001918.3(DBT):c.*8073C>T http://identifiers.org/clinvar/291438 ^@ NM_001918.3(DBT):c.*1747A>G http://identifiers.org/clinvar/291488 ^@ NM_001854.3(COL11A1):c.*301A>G http://identifiers.org/clinvar/291538 ^@ NM_001854.3(COL11A1):c.1011A>T (p.Ile337=) http://identifiers.org/clinvar/291588 ^@ NM_015074.3(KIF1B):c.*275_*280dupCACACA http://identifiers.org/clinvar/292540 ^@ NM_019032.5(ADAMTSL4):c.1861+13C>T http://identifiers.org/clinvar/292690 ^@ NM_152263.3(TPM3):c.*325G>A http://identifiers.org/clinvar/292590 ^@ NM_000396.3(CTSK):c.-91G>A http://identifiers.org/clinvar/292940 ^@ NM_003126.2(SPTA1):c.6889C>T (p.Arg2297Trp) http://identifiers.org/clinvar/292990 ^@ NM_003126.2(SPTA1):c.3829C>T (p.Arg1277Cys) http://identifiers.org/clinvar/293040 ^@ NM_003126.2(SPTA1):c.1396G>C (p.Asp466His) http://identifiers.org/clinvar/293090 ^@ NM_002241.4(KCNJ10):c.*2062T>G http://identifiers.org/clinvar/293140 ^@ NM_000702.3(ATP1A2):c.*143G>T http://identifiers.org/clinvar/292790 ^@ NM_000298.5(PKLR):c.*1067T>C http://identifiers.org/clinvar/293290 ^@ NM_004550.4(NDUFS2):c.*187G>A http://identifiers.org/clinvar/293390 ^@ NM_004431.4(EPHA2):c.*742T>A http://identifiers.org/clinvar/292440 ^@ NM_005266.6(GJA5):c.*616T>C http://identifiers.org/clinvar/292490 ^@ NM_005850.4(SF3B4):c.-263dupA http://identifiers.org/clinvar/293190 ^@ NM_002857.3(PEX19):c.*2717A>G http://identifiers.org/clinvar/293590 ^@ NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) http://identifiers.org/clinvar/293340 ^@ NM_003001.3(SDHC):c.*1098T>C http://identifiers.org/clinvar/293640 ^@ NM_000130.4(F5):c.437G>A (p.Arg146Gln) http://identifiers.org/clinvar/292640 ^@ NM_152263.3(TPM3):c.*4541T>A http://identifiers.org/clinvar/293540 ^@ NM_006996.2(SLC19A2):c.-196C>A http://identifiers.org/clinvar/292740 ^@ NM_001111.4(ADAR):c.*619C>T http://identifiers.org/clinvar/292840 ^@ NM_005572.3(LMNA):c.*36G>A http://identifiers.org/clinvar/292890 ^@ NM_001012331.1(NTRK1):c.1710C>T (p.Phe570=) http://identifiers.org/clinvar/293240 ^@ NM_000309.3(PPOX):c.-119T>C http://identifiers.org/clinvar/293440 ^@ NM_004431.4(EPHA2):c.830C>T (p.Ser277Leu) http://identifiers.org/clinvar/293490 ^@ NM_005149.2(TBX19):c.*469G>A http://identifiers.org/clinvar/294679 ^@ NM_201253.2(CRB1):c.2419C>T (p.Leu807=) http://identifiers.org/clinvar/295029 ^@ NM_032409.2(PINK1):c.*673_*675dupCTT http://identifiers.org/clinvar/294979 ^@ NM_002389.4(CD46):c.*180T>C http://identifiers.org/clinvar/295129 ^@ NM_000228.2(LAMB3):c.777C>T (p.Cys259=) http://identifiers.org/clinvar/335835 ^@ NM_014946.3(SPAST):c.1744T>C (p.Leu582=) http://identifiers.org/clinvar/336442 ^@ NM_000179.2(MSH6):c.1267C>A (p.Leu423Ile) http://identifiers.org/clinvar/344671 ^@ NM_003242.5(TGFBR2):c.*328A>C http://identifiers.org/clinvar/343871 ^@ NM_004733.3(SLC33A1):c.*169delA http://identifiers.org/clinvar/344821 ^@ NM_006371.4(CRTAP):c.*526G>C http://identifiers.org/clinvar/344221 ^@ NM_031955.5(SPATA16):c.397A>G (p.Met133Val) http://identifiers.org/clinvar/344271 ^@ NM_181426.1(CCDC39):c.1198G>T (p.Gly400Cys) http://identifiers.org/clinvar/344321 ^@ NM_020166.4(MCCC1):c.-132C>T http://identifiers.org/clinvar/336892 ^@ NM_001002755.2(NFU1):c.167-13T>G http://identifiers.org/clinvar/345710 ^@ NM_002222.5(ITPR1):c.2159+14G>A http://identifiers.org/clinvar/345660 ^@ NM_015175.2(NBEAL2):c.4123G>A (p.Gly1375Ser) http://identifiers.org/clinvar/345760 ^@ NM_002222.5(ITPR1):c.6910G>A (p.Ala2304Thr) http://identifiers.org/clinvar/345860 ^@ NM_000094.3(COL7A1):c.3233G>A (p.Arg1078His) http://identifiers.org/clinvar/345021 ^@ NM_001106.3(ACVR2B):c.*7424A>G http://identifiers.org/clinvar/346060 ^@ NM_144499.2(GNAT1):c.*516T>G http://identifiers.org/clinvar/346160 ^@ NM_052859.3(RFT1):c.*1975C>T http://identifiers.org/clinvar/346460 ^@ NM_198859.3(PRICKLE2):c.*995C>A http://identifiers.org/clinvar/345610 ^@ NM_015175.2(NBEAL2):c.-14_-9dupAGCCGG http://identifiers.org/clinvar/346810 ^@ NM_014043.3(CHMP2B):c.*106dupA http://identifiers.org/clinvar/345810 ^@ NM_000094.3(COL7A1):c.7286C>T (p.Pro2429Leu) http://identifiers.org/clinvar/345960 ^@ NM_199069.1(NDUFAF3):c.-126G>C http://identifiers.org/clinvar/346010 ^@ NM_002292.3(LAMB2):c.386-15C>T http://identifiers.org/clinvar/346410 ^@ NM_000925.3(PDHB):c.249T>C (p.Ile83=) http://identifiers.org/clinvar/346610 ^@ NM_032682.5(FOXP1):c.*1131T>G http://identifiers.org/clinvar/343621 ^@ NM_001184.3(ATR):c.489T>C (p.Asn163=) http://identifiers.org/clinvar/343721 ^@ NM_032383.4(HPS3):c.*127_*134dupCACACACA http://identifiers.org/clinvar/346910 ^@ NM_182896.2(ARL13B):c.1006C>T (p.Arg336Trp) http://identifiers.org/clinvar/361915 ^@ NM_003235.4(TG):c.1567T>C (p.Ser523Pro) http://identifiers.org/clinvar/354137 ^@ NM_000521.3(HEXB):c.1612G>A (p.Glu538Lys) http://identifiers.org/clinvar/353887 ^@ NM_176806.3(MOCS2):c.-37T>C http://identifiers.org/clinvar/362215 ^@ NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) http://identifiers.org/clinvar/353937 ^@ NM_001104631.1(PDE4D):c.*2768T>G http://identifiers.org/clinvar/353987 ^@ NM_001104631.1(PDE4D):c.1707C>T (p.Ile569=) http://identifiers.org/clinvar/358566 ^@ NM_000108.4(DLD):c.117G>A (p.Pro39=) http://identifiers.org/clinvar/362365 ^@ NM_177924.4(ASAH1):c.*244C>T http://identifiers.org/clinvar/354487 ^@ NM_004385.4(VCAN):c.*961T>C http://identifiers.org/clinvar/362565 ^@ NM_003018.3(SFTPC):c.*18+12G>A http://identifiers.org/clinvar/358766 ^@ NM_012338.3(TSPAN12):c.-102G>A http://identifiers.org/clinvar/354337 ^@ NM_000046.3(ARSB):c.-1058A>G http://identifiers.org/clinvar/358916 ^@ NM_018718.2(CEP41):c.*2386A>G http://identifiers.org/clinvar/354687 ^@ NM_005068.2(SIM1):c.-58T>C http://identifiers.org/clinvar/354537 ^@ NM_002890.2(RASA1):c.*448T>G http://identifiers.org/clinvar/359116 ^@ NM_000083.2(CLCN1):c.2124C>T (p.Phe708=) http://identifiers.org/clinvar/359166 ^@ NM_014141.5(CNTNAP2):c.-218A>G http://identifiers.org/clinvar/359266 ^@ NM_014141.5(CNTNAP2):c.*4260C>T http://identifiers.org/clinvar/354887 ^@ NM_007214.4(SEC63):c.*129G>A http://identifiers.org/clinvar/363254 ^@ NM_005914.3(MCM4):c.*1134A>C http://identifiers.org/clinvar/359416 ^@ NM_022458.3(LMBR1):c.*100T>G http://identifiers.org/clinvar/355037 ^@ NM_014845.5(FIG4):c.350C>T (p.Ala117Val) http://identifiers.org/clinvar/359516 ^@ NM_001101426.3(ISPD):c.*2488G>A http://identifiers.org/clinvar/363604 ^@ NM_020361.4(CPA6):c.1021A>G (p.Ile341Val) http://identifiers.org/clinvar/363804 ^@ NM_000318.2(PEX2):c.*727T>C http://identifiers.org/clinvar/363904 ^@ NM_002485.4(NBN):c.*757A>G http://identifiers.org/clinvar/356627 ^@ NM_005943.5(MOCS1):c.*1432T>C http://identifiers.org/clinvar/356527 ^@ NM_182548.3(LHFPL5):c.*505_*506insTCTC http://identifiers.org/clinvar/361305 ^@ NM_178857.5(RP1L1):c.3664A>G (p.Thr1222Ala) http://identifiers.org/clinvar/356577 ^@ NM_001145717.1(PNPLA1):c.*267C>T http://identifiers.org/clinvar/361405 ^@ NM_178857.5(RP1L1):c.501A>G (p.Thr167=) http://identifiers.org/clinvar/356677 ^@ NM_018965.3(TREM2):c.393C>T (p.Asp131=) http://identifiers.org/clinvar/356727 ^@ NM_002098.5(GUCA1B):c.*295G>A http://identifiers.org/clinvar/356977 ^@ NM_006502.2(POLH):c.*3225G>A http://identifiers.org/clinvar/356777 ^@ NM_000322.4(PRPH2):c.649A>G (p.Ser217Gly) http://identifiers.org/clinvar/357077 ^@ NM_020745.3(AARS2):c.879C>T (p.Leu293=) http://identifiers.org/clinvar/357127 ^@ NM_001024630.3(RUNX2):c.*2479C>A http://identifiers.org/clinvar/367104 ^@ NM_203447.3(DOCK8):c.*845T>C http://identifiers.org/clinvar/367154 ^@ NM_004972.3(JAK2):c.*1329_*1330delGT http://identifiers.org/clinvar/311144 ^@ NM_001846.3(COL4A2):c.2095+9C>T http://identifiers.org/clinvar/367254 ^@ NM_138691.2(TMC1):c.703G>T (p.Ala235Ser) http://identifiers.org/clinvar/367304 ^@ NM_017662.4(TRPM6):c.4569A>T (p.Thr1523=) http://identifiers.org/clinvar/367333 ^@ NM_017662.4(TRPM6):c.-161A>G http://identifiers.org/clinvar/311444 ^@ NM_002010.2(FGF9):c.*442T>C http://identifiers.org/clinvar/311544 ^@ NM_014363.5(SACS):c.4302A>G (p.Leu1434=) http://identifiers.org/clinvar/311744 ^@ NM_015087.4(SPG20):c.*1892G>A http://identifiers.org/clinvar/311794 ^@ NM_000538.3(RFXAP):c.*55A>G http://identifiers.org/clinvar/311844 ^@ NM_001127217.2(SMAD9):c.*2216G>A http://identifiers.org/clinvar/312194 ^@ NM_014252.3(SLC25A15):c.*684C>T http://identifiers.org/clinvar/312294 ^@ NM_000321.2(RB1):c.2106+8A>G http://identifiers.org/clinvar/367583 ^@ NM_000136.2(FANCC):c.*1516A>G http://identifiers.org/clinvar/313333 ^@ NM_002863.4(PYGL):c.-29A>C http://identifiers.org/clinvar/313683 ^@ NM_182914.2(SYNE2):c.*507C>A http://identifiers.org/clinvar/314033 ^@ NM_031427.3(DNAL1):c.*980G>A http://identifiers.org/clinvar/314283 ^@ NM_000428.2(LTBP2):c.3278-15G>A http://identifiers.org/clinvar/299857 ^@ NM_021252.4(RAB18):c.*2476G>A http://identifiers.org/clinvar/314433 ^@ NM_017791.2(FLVCR2):c.*1427_*1428dupGT http://identifiers.org/clinvar/300007 ^@ NM_000124.3(ERCC6):c.*1872C>T http://identifiers.org/clinvar/314633 ^@ NM_004863.3(SPTLC2):c.*1936A>T http://identifiers.org/clinvar/300107 ^@ NM_000242.2(MBL2):c.*2470A>C http://identifiers.org/clinvar/300157 ^@ NM_033056.3(PCDH15):c.*414G>C http://identifiers.org/clinvar/305747 ^@ NM_007103.3(NDUFV1):c.563G>A (p.Gly188Asp) http://identifiers.org/clinvar/305847 ^@ NM_002180.2(IGHMBP2):c.1587T>G (p.Gly529=) http://identifiers.org/clinvar/300257 ^@ NM_000417.2(IL2RA):c.427G>A (p.Val143Met) http://identifiers.org/clinvar/299757 ^@ NM_014915.2(ANKRD26):c.789C>G (p.Asp263Glu) http://identifiers.org/clinvar/305947 ^@ NM_001360.2(DHCR7):c.*261G>A http://identifiers.org/clinvar/300357 ^@ NM_018344.5(SLC29A3):c.300+3A>G http://identifiers.org/clinvar/306047 ^@ NM_005472.4(KCNE3):c.*1399T>C http://identifiers.org/clinvar/309600 ^@ NM_000423.2(KRT2):c.1500T>C (p.Thr500=) http://identifiers.org/clinvar/309700 ^@ NM_002272.3(KRT4):c.405G>A (p.Thr135=) http://identifiers.org/clinvar/311094 ^@ NM_001846.3(COL4A2):c.-101G>A http://identifiers.org/clinvar/309750 ^@ NM_001173467.2(SP7):c.*1252G>T http://identifiers.org/clinvar/311294 ^@ NM_021954.3(GJA3):c.*2829A>T http://identifiers.org/clinvar/311344 ^@ NM_021954.3(GJA3):c.545A>G (p.Asp182Gly) http://identifiers.org/clinvar/311394 ^@ NM_006783.4(GJB6):c.-319A>G http://identifiers.org/clinvar/318185 ^@ NM_014714.3(IFT140):c.1862G>A (p.Arg621Gln) http://identifiers.org/clinvar/310100 ^@ NM_001065.3(TNFRSF1A):c.*350dupT http://identifiers.org/clinvar/310200 ^@ NM_002076.3(GNS):c.*334C>T http://identifiers.org/clinvar/311694 ^@ NM_004795.3(KL):c.1407T>C (p.Gly469=) http://identifiers.org/clinvar/330305 ^@ NM_000064.3(C3):c.2421G>C (p.Val807=) http://identifiers.org/clinvar/311944 ^@ NM_207361.5(FREM2):c.1191C>T (p.Pro397=) http://identifiers.org/clinvar/311994 ^@ NM_207361.5(FREM2):c.5519G>A (p.Arg1840Gln) http://identifiers.org/clinvar/330505 ^@ NM_020533.2(MCOLN1):c.1707-14C>T http://identifiers.org/clinvar/319074 ^@ NM_003041.3(SLC5A2):c.1792+12T>C http://identifiers.org/clinvar/338231 ^@ NM_032034.3(SLC4A11):c.*34C>T http://identifiers.org/clinvar/338281 ^@ NM_000687.3(AHCY):c.29-4G>A http://identifiers.org/clinvar/311244 ^@ NM_000131.4(F7):c.*620C>T http://identifiers.org/clinvar/319875 ^@ NM_031885.3(BBS2):c.-133C>T http://identifiers.org/clinvar/338481 ^@ NM_000457.4(HNF4A):c.*2703dupT http://identifiers.org/clinvar/311494 ^@ NM_014363.5(SACS):c.*677C>T http://identifiers.org/clinvar/338731 ^@ NM_006420.2(ARFGEF2):c.*1969G>C http://identifiers.org/clinvar/320175 ^@ NM_001538.3(HSF4):c.-186C>T http://identifiers.org/clinvar/320275 ^@ NM_004360.4(CDH1):c.*346A>T http://identifiers.org/clinvar/311644 ^@ NM_015972.3(POLR1D):c.-107C>T http://identifiers.org/clinvar/320325 ^@ NM_001605.2(AARS):c.2715T>C (p.Val905=) http://identifiers.org/clinvar/320375 ^@ NM_015386.2(COG4):c.1195+8C>T http://identifiers.org/clinvar/311894 ^@ NM_001127217.2(SMAD9):c.1117G>A (p.Val373Ile) http://identifiers.org/clinvar/320875 ^@ NM_001127464.2(ZNF469):c.1896G>A (p.Ser632=) http://identifiers.org/clinvar/312144 ^@ NM_020751.2(COG6):c.1459G>A (p.Val487Ile) http://identifiers.org/clinvar/313833 ^@ NM_152443.2(RDH12):c.-253G>A http://identifiers.org/clinvar/312244 ^@ NM_003701.3(TNFSF11):c.*333_*343delTGAAGTGGAGA http://identifiers.org/clinvar/312344 ^@ NM_000053.3(ATP7B):c.*1756T>C http://identifiers.org/clinvar/314083 ^@ NM_031427.3(DNAL1):c.*4032A>G http://identifiers.org/clinvar/314233 ^@ NM_182894.2(VSX2):c.*1764A>G http://identifiers.org/clinvar/326406 ^@ NM_024422.4(DSC2):c.-392G>A http://identifiers.org/clinvar/342132 ^@ NM_005138.2(SCO2):c.-114G>C http://identifiers.org/clinvar/367883 ^@ NM_002351.4(SH2D1A):c.*866A>G http://identifiers.org/clinvar/368083 ^@ NM_000054.4(AVPR2):c.*257G>A http://identifiers.org/clinvar/327156 ^@ NM_005359.5(SMAD4):c.*3398A>G http://identifiers.org/clinvar/368233 ^@ NM_004006.2(DMD):c.10146C>G (p.Thr3382=) http://identifiers.org/clinvar/330055 ^@ NM_002739.4(PRKCG):c.-233C>T http://identifiers.org/clinvar/330205 ^@ NM_001256714.1(DNAAF3):c.*28A>C http://identifiers.org/clinvar/330255 ^@ NM_006087.3(TUBB4A):c.*260G>C http://identifiers.org/clinvar/330355 ^@ NM_000208.3(INSR):c.*4195T>C http://identifiers.org/clinvar/330555 ^@ NM_006949.3(STXBP2):c.1247-1G>C http://identifiers.org/clinvar/337981 ^@ NM_001042472.2(ABHD12):c.*414delA http://identifiers.org/clinvar/338031 ^@ NM_032609.2(COX4I2):c.1-6C>T http://identifiers.org/clinvar/338081 ^@ NM_015338.5(ASXL1):c.891G>A (p.Thr297=) http://identifiers.org/clinvar/338331 ^@ NM_015474.3(SAMHD1):c.*536C>T http://identifiers.org/clinvar/338381 ^@ NM_005461.4(MAFB):c.*1591T>C http://identifiers.org/clinvar/338431 ^@ NM_000457.4(HNF4A):c.*76G>A http://identifiers.org/clinvar/338581 ^@ NM_001250.5(CD40):c.*216A>C http://identifiers.org/clinvar/338631 ^@ NM_030777.3(SLC2A10):c.*2176T>C http://identifiers.org/clinvar/338782 ^@ NM_020436.4(SALL4):c.408T>C (p.Asn136=) http://identifiers.org/clinvar/338832 ^@ NM_000782.4(CYP24A1):c.359G>T (p.Arg120Leu) http://identifiers.org/clinvar/338932 ^@ NM_004738.4(VAPB):c.574-4G>A http://identifiers.org/clinvar/339032 ^@ NM_001001433.2(STX16):c.-673C>G http://identifiers.org/clinvar/330405 ^@ NM_000208.3(INSR):c.*1432C>T http://identifiers.org/clinvar/330455 ^@ NM_000208.3(INSR):c.2573C>T (p.Thr858Met) http://identifiers.org/clinvar/338131 ^@ NM_015338.5(ASXL1):c.*921T>C http://identifiers.org/clinvar/338181 ^@ NM_006892.3(DNMT3B):c.1996+6C>T http://identifiers.org/clinvar/338531 ^@ NM_000308.3(CTSA):c.753G>A (p.Trp251Ter) http://identifiers.org/clinvar/341682 ^@ NM_022098.3(XPNPEP3):c.*467C>T http://identifiers.org/clinvar/383944 ^@ NM_020987.4(ANK3):c.7925C>G (p.Ser2642Cys) http://identifiers.org/clinvar/390512 ^@ NM_020944.2(GBA2):c.787-19T>C http://identifiers.org/clinvar/385034 ^@ NM_004092.3(ECHS1):c.489G>A (p.Pro163=) http://identifiers.org/clinvar/379847 ^@ NM_000280.4(PAX6):c.486G>A (p.Trp162Ter) http://identifiers.org/clinvar/383282 ^@ NM_007078.2(LDB3):c.689+3902G>A http://identifiers.org/clinvar/379346 ^@ NM_005343.3(HRAS):c.450+174G>A http://identifiers.org/clinvar/387673 ^@ NM_000445.4(PLEC):c.10554C>T (p.Arg3518=) http://identifiers.org/clinvar/382441 ^@ NM_032273.3(TMEM126A):c.271T>C (p.Leu91=) http://identifiers.org/clinvar/389512 ^@ NM_000051.3(ATM):c.3942T>C (p.Thr1314=) http://identifiers.org/clinvar/382190 ^@ NM_000051.3(ATM):c.8786+16T>C http://identifiers.org/clinvar/393001 ^@ NM_000256.3(MYBPC3):c.1624+13G>C http://identifiers.org/clinvar/382491 ^@ NM_014191.3(SCN8A):c.3147C>T (p.Thr1049=) http://identifiers.org/clinvar/379146 ^@ NM_000368.4(TSC1):c.2945A>G (p.Lys982Arg) http://identifiers.org/clinvar/382642 ^@ NM_002180.2(IGHMBP2):c.548-20C>T http://identifiers.org/clinvar/387573 ^@ NM_016725.2(FOLR1):c.-9+9C>T http://identifiers.org/clinvar/382391 ^@ NM_014365.2(HSPB8):c.432-16C>T http://identifiers.org/clinvar/387823 ^@ NM_020822.2(KCNT1):c.879G>A (p.Glu293=) http://identifiers.org/clinvar/383382 ^@ NM_006231.3(POLE):c.3978C>T (p.Ile1326=) http://identifiers.org/clinvar/390062 ^@ NM_000059.3(BRCA2):c.6841+6T>C http://identifiers.org/clinvar/379046 ^@ NM_000257.3(MYH7):c.4275C>A (p.Ile1425=) http://identifiers.org/clinvar/378996 ^@ NM_006009.3(TUBA1A):c.1227T>G (p.Val409=) http://identifiers.org/clinvar/381890 ^@ NM_014191.3(SCN8A):c.-55+20C>G http://identifiers.org/clinvar/390012 ^@ NM_006329.3(FBLN5):c.1185+18G>A http://identifiers.org/clinvar/392901 ^@ NM_001845.5(COL4A1):c.2659C>T (p.Pro887Ser) http://identifiers.org/clinvar/393051 ^@ NM_004667.5(HERC2):c.11716C>T (p.Arg3906Cys) http://identifiers.org/clinvar/392951 ^@ NM_002225.3(IVD):c.590T>A (p.Phe197Tyr) http://identifiers.org/clinvar/392651 ^@ NM_000059.3(BRCA2):c.3975T>C (p.Thr1325=) http://identifiers.org/clinvar/386923 ^@ NM_001080449.2(DNA2):c.1415+16A>C http://identifiers.org/clinvar/387423 ^@ NM_015634.3(KIF1BP):c.1389A>C (p.Pro463=) http://identifiers.org/clinvar/389862 ^@ NM_000321.2(RB1):c.2521-9A>C http://identifiers.org/clinvar/382592 ^@ NM_000548.4(TSC2):c.2742+20A>C http://identifiers.org/clinvar/390112 ^@ NM_002471.3(MYH6):c.2721C>T (p.Cys907=) http://identifiers.org/clinvar/379296 ^@ NM_000257.3(MYH7):c.5790+15T>G http://identifiers.org/clinvar/382542 ^@ NM_173201.3(ATP2A1):c.2776C>T (p.Pro926Ser) http://identifiers.org/clinvar/387923 ^@ NM_003239.4(TGFB3):c.826C>T (p.Pro276Ser) http://identifiers.org/clinvar/382341 ^@ NM_002693.2(POLG):c.*4T>C http://identifiers.org/clinvar/392851 ^@ NM_005477.2(HCN4):c.2274C>T (p.Arg758=) http://identifiers.org/clinvar/381389 ^@ NM_003119.3(SPG7):c.1656C>T (p.Val552=) http://identifiers.org/clinvar/385484 ^@ NM_000548.4(TSC2):c.4275G>A (p.Gly1425=) http://identifiers.org/clinvar/47449 ^@ NM_133378.4(TTN):c.78065G>A (p.Arg26022Gln) http://identifiers.org/clinvar/47499 ^@ NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) http://identifiers.org/clinvar/47799 ^@ NM_133379.4(TTN):c.16328T>C (p.Val5443Ala) http://identifiers.org/clinvar/47849 ^@ NM_001256850.1(TTN):c.10303+2430T>C http://identifiers.org/clinvar/47899 ^@ NM_144573.3(NEXN):c.1949_1951delGAG (p.Gly650del) http://identifiers.org/clinvar/47949 ^@ NM_144612.6(LOXHD1):c.6107C>T (p.Ala2036Val) http://identifiers.org/clinvar/48001 ^@ NM_005709.3(USH1C):c.1518C>T (p.Asn506=) http://identifiers.org/clinvar/164 ^@ NM_000274.3(OAT):c.955C>T (p.His319Tyr) http://identifiers.org/clinvar/237 ^@ NM_000398.6(CYB5R3):c.316G>A (p.Val106Met) http://identifiers.org/clinvar/260 ^@ NM_004628.4(XPC):c.413-9T>A http://identifiers.org/clinvar/375 ^@ NM_000308.3(CTSA):c.1372T>G (p.Phe458Val) http://identifiers.org/clinvar/412 ^@ NM_003730.4(RNASET2):c.550T>C (p.Cys184Arg) http://identifiers.org/clinvar/621 ^@ NM_000277.1(PAH):c.731C>T (p.Pro244Leu) http://identifiers.org/clinvar/653 ^@ F5, 1-BP INS, 5493G http://identifiers.org/clinvar/685 ^@ NM_000147.4(FUCA1):c.244C>T (p.Gln82Ter) http://identifiers.org/clinvar/694 ^@ NM_001145320.1(ADAMTSL2):c.338G>A (p.Arg113His) http://identifiers.org/clinvar/974 ^@ FANCI, IVS31AS, A-G, -88 http://identifiers.org/clinvar/1545 ^@ NM_000237.2(LPL):c.306A>C (p.Arg102Ser) http://identifiers.org/clinvar/1590 ^@ NLRP7, 1-BP INS, 337G http://identifiers.org/clinvar/1685 ^@ NM_000528.3(MAN2B1):c.2278C>T (p.Arg760Ter) http://identifiers.org/clinvar/1730 ^@ NIPAL4, ALA114ASN http://identifiers.org/clinvar/1781 ^@ CYP17A1, 469-BP INS, 518-BP DEL http://identifiers.org/clinvar/1826 ^@ LPAR6, 4-BP INS, 69CATG http://identifiers.org/clinvar/1871 ^@ NM_007252.3(POU6F2):c.573G>T (p.Gln191His) http://identifiers.org/clinvar/1916 ^@ NM_001017922.1(ERMAP):c.169G>A (p.Gly57Arg) http://identifiers.org/clinvar/1961 ^@ NM_000022.3(ADA):c.890C>A (p.Pro297Gln) http://identifiers.org/clinvar/2005 ^@ SGCG, 2-BP DEL, 801TC http://identifiers.org/clinvar/2050 ^@ NM_152443.2(RDH12):c.184C>T (p.Arg62Ter) http://identifiers.org/clinvar/2096 ^@ NM_000920.3(PC):c.434T>C (p.Val145Ala) http://identifiers.org/clinvar/2141 ^@ NIPBL, 1-BP DEL, 150G http://identifiers.org/clinvar/2189 ^@ NM_207352.3(CYP4V2):c.1523G>A (p.Arg508His) http://identifiers.org/clinvar/2233 ^@ NM_000551.3(VHL):c.241C>T (p.Pro81Ser) http://identifiers.org/clinvar/2279 ^@ NM_014874.3(MFN2):c.617C>T (p.Thr206Ile) http://identifiers.org/clinvar/2324 ^@ NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) http://identifiers.org/clinvar/2415 ^@ NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter) http://identifiers.org/clinvar/2460 ^@ NM_175053.3(KRT74):c.444C>G (p.Asn148Lys) http://identifiers.org/clinvar/2506 ^@ SOX9, 583C-T http://identifiers.org/clinvar/2554 ^@ NM_000243.2(MEFV):c.443A>T (p.Glu148Val) http://identifiers.org/clinvar/2646 ^@ NM_000391.3(TPP1):c.616C>T (p.Arg206Cys) http://identifiers.org/clinvar/2691 ^@ DFNB31, IVS2DS, G-A, +1 http://identifiers.org/clinvar/3288 ^@ NM_000268.3(NF2):c.286_288delTTC (p.Phe96del) http://identifiers.org/clinvar/3332 ^@ GABABR2, HAPLOTYPE, TATA (rs1435252, rs3780422, rs2779562, rs3750344) http://identifiers.org/clinvar/10177 ^@ NM_000132.3(F8):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/10221 ^@ NM_000132.3(F8):c.1630G>A (p.Asp544Asn) http://identifiers.org/clinvar/10267 ^@ NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) http://identifiers.org/clinvar/10311 ^@ NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr) http://identifiers.org/clinvar/10357 ^@ NM_007325.4(GRIA3):c.1891C>A (p.Arg631Ser) http://identifiers.org/clinvar/11419 ^@ NM_014009.3(FOXP3):c.1099T>C (p.Phe367Leu) http://identifiers.org/clinvar/11469 ^@ NM_003639.4(IKBKG):c.517C>G (p.Arg173Gly) http://identifiers.org/clinvar/11521 ^@ NM_005120.2(MED12):c.3020A>G (p.Asn1007Ser) http://identifiers.org/clinvar/11571 ^@ NM_002578.4(PAK3):c.1337G>C (p.Trp446Ser) http://identifiers.org/clinvar/11621 ^@ CACNA1F, 425-BP DEL http://identifiers.org/clinvar/11671 ^@ NM_005333.4(HCCS):c.649C>T (p.Arg217Cys) http://identifiers.org/clinvar/12425 ^@ NM_000363.4(TNNI3):c.532A>G (p.Lys178Glu) http://identifiers.org/clinvar/12476 ^@ NM_017617.4(NOTCH1):c.3319C>T (p.Arg1107Ter) http://identifiers.org/clinvar/12526 ^@ NM_004612.3(TGFBR1):c.1459C>T (p.Arg487Trp) http://identifiers.org/clinvar/12576 ^@ NM_002467.4(MYC):c.162G>C (p.Glu54Asp) http://identifiers.org/clinvar/12627 ^@ NM_007313.2(ABL1):c.814T>C (p.Tyr272His) http://identifiers.org/clinvar/12677 ^@ NM_000362.4(TIMP3):c.572A>G (p.Tyr191Cys) http://identifiers.org/clinvar/12729 ^@ NM_198253.2(TERT):c.604G>A (p.Ala202Thr) http://identifiers.org/clinvar/12779 ^@ NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) http://identifiers.org/clinvar/12880 ^@ NM_021007.2(SCN2A):c.3956G>A (p.Arg1319Gln) http://identifiers.org/clinvar/12930 ^@ NM_000702.3(ATP1A2):c.1127C>T (p.Thr376Met) http://identifiers.org/clinvar/12981 ^@ NM_000540.2(RYR1):c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del) http://identifiers.org/clinvar/13031 ^@ RHO, 12-BP DEL, EX1 http://identifiers.org/clinvar/13083 ^@ NM_000321.2(RB1):c.1949_1957delTTTATAAAA (p.Phe650_Lys928del) http://identifiers.org/clinvar/13133 ^@ NM_000536.3(RAG2):c.283G>A (p.Gly95Arg) http://identifiers.org/clinvar/13184 ^@ NM_002906.3(RDX):c.1732G>A (p.Asp578Asn) http://identifiers.org/clinvar/13235 ^@ NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) http://identifiers.org/clinvar/13286 ^@ NM_000141.4(FGFR2):c.1052C>G (p.Ser351Cys) http://identifiers.org/clinvar/13337 ^@ NM_002834.4(PTPN11):c.227A>T (p.Glu76Val) http://identifiers.org/clinvar/13390 ^@ NM_000207.2(INS):c.16C>T (p.Arg6Cys) http://identifiers.org/clinvar/13442 ^@ NM_000371.3(TTR):c.325G>C (p.Glu109Gln) http://identifiers.org/clinvar/13493 ^@ NM_000217.2(KCNA1):c.677C>A (p.Thr226Lys) http://identifiers.org/clinvar/13543 ^@ NM_006206.4(PDGFRA):c.2525A>T (p.Asp842Val) http://identifiers.org/clinvar/36872 ^@ NM_024334.2(TMEM43):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/37035 ^@ NM_005022.3(PFN1):c.341T>C (p.Met114Thr) http://identifiers.org/clinvar/37099 ^@ FAN1, IVS3DS, G-A, +1 http://identifiers.org/clinvar/37234 ^@ MCM4, IVS1AS, A-G, -2 http://identifiers.org/clinvar/37313 ^@ NM_005340.6(HINT1):c.250T>C (p.Cys84Arg) http://identifiers.org/clinvar/37397 ^@ NM_007294.3(BRCA1):c.1175_1218del44 (p.Leu392Argfs) http://identifiers.org/clinvar/37449 ^@ NM_007294.3(BRCA1):c.213-11T>G http://identifiers.org/clinvar/37503 ^@ NM_007294.3(BRCA1):c.3052_3053ins5 http://identifiers.org/clinvar/37560 ^@ NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs) http://identifiers.org/clinvar/37611 ^@ NM_007294.3(BRCA1):c.4807_4821delCCCCAATTGAAAGTT (p.Pro1603_Val1607del) http://identifiers.org/clinvar/37667 ^@ NM_007294.3(BRCA1):c.5406+5G>T http://identifiers.org/clinvar/37721 ^@ NM_000059.3(BRCA2):c.10153C>T (p.Arg3385Cys) http://identifiers.org/clinvar/37772 ^@ NM_000059.3(BRCA2):c.2026T>C (p.Cys676Arg) http://identifiers.org/clinvar/37825 ^@ NM_000059.3(BRCA2):c.317-10A>G http://identifiers.org/clinvar/37877 ^@ NM_000059.3(BRCA2):c.4092_4093delAT (p.Ile1364Metfs) http://identifiers.org/clinvar/37930 ^@ NM_000059.3(BRCA2):c.4905G>T (p.Leu1635Phe) http://identifiers.org/clinvar/37984 ^@ NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter) http://identifiers.org/clinvar/38036 ^@ NM_000059.3(BRCA2):c.632-16A>C http://identifiers.org/clinvar/38089 ^@ NM_000059.3(BRCA2):c.7258G>T (p.Glu2420Ter) http://identifiers.org/clinvar/38139 ^@ NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) http://identifiers.org/clinvar/38189 ^@ NM_000059.3(BRCA2):c.8867A>C (p.Glu2956Ala) http://identifiers.org/clinvar/38239 ^@ NM_000059.3(BRCA2):c.9401delG (p.Gly3134Alafs) http://identifiers.org/clinvar/38356 ^@ NM_002437.4(MPV17):c.451dupC (p.Leu151Profs) http://identifiers.org/clinvar/38413 ^@ NM_024312.4(GNPTAB):c.1196C>T (p.Ser399Phe) http://identifiers.org/clinvar/38301 ^@ NM_000157.3(GBA):c.1226A>C (p.Asn409Thr) http://identifiers.org/clinvar/38556 ^@ NM_000155.3(GALT):c.959C>T (p.Ala320Val) http://identifiers.org/clinvar/38741 ^@ NM_000495.4(COL4A5):c.(?_-202)-1982_(81_?)del http://identifiers.org/clinvar/39578 ^@ NM_003647.2(DGKE):c.127C>T (p.Gln43Ter) http://identifiers.org/clinvar/39630 ^@ NM_020920.3(CHD8):c.3172C>T (p.Arg1058Ter) http://identifiers.org/clinvar/39680 ^@ NM_015214.2(DDHD2):c.1546C>T (p.Arg516Ter) http://identifiers.org/clinvar/39732 ^@ AAGAB, ARG161TER http://identifiers.org/clinvar/39783 ^@ NM_003036.3(SKI):c.101G>T (p.Gly34Val) http://identifiers.org/clinvar/39834 ^@ NM_002496.3(NDUFS8):c.476C>A (p.Ala159Asp) http://identifiers.org/clinvar/39977 ^@ NM_000372.4(TYR):c.272G>A (p.Cys91Tyr) http://identifiers.org/clinvar/40089 ^@ EIF4E, 1-BP INS, -25C http://identifiers.org/clinvar/40232 ^@ NM_024531.4(SLC52A2):c.1255G>A (p.Gly419Ser) http://identifiers.org/clinvar/40369 ^@ NM_004333.4(BRAF):c.1447A>C (p.Lys483Gln) http://identifiers.org/clinvar/40437 ^@ NM_005343.3(HRAS):c.257A>C (p.Asn86Thr) http://identifiers.org/clinvar/40505 ^@ NM_002834.4(PTPN11):c.289G>C (p.Glu97Gln) http://identifiers.org/clinvar/40561 ^@ NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) http://identifiers.org/clinvar/40626 ^@ NM_002880.3(RAF1):c.1755A>G (p.Val585=) http://identifiers.org/clinvar/40704 ^@ NM_002755.3(MAP2K1):c.-85G>C http://identifiers.org/clinvar/40792 ^@ NM_030662.3(MAP2K2):c.383C>G (p.Pro128Arg) http://identifiers.org/clinvar/40988 ^@ NM_000095.2(COMP):c.1417_1419delGAC (p.Asp473del) http://identifiers.org/clinvar/41047 ^@ NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) http://identifiers.org/clinvar/41102 ^@ NM_003611.2(OFD1):c.247C>T (p.Gln83Ter) http://identifiers.org/clinvar/41158 ^@ NM_003977.2(AIP):c.-1212_279+578del http://identifiers.org/clinvar/41210 ^@ NM_003977.3(AIP):c.811C>T (p.Arg271Trp) http://identifiers.org/clinvar/51169 ^@ NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) http://identifiers.org/clinvar/51220 ^@ NM_000059.3(BRCA2):c.1888dupA (p.Thr630Asnfs) http://identifiers.org/clinvar/51272 ^@ NM_000059.3(BRCA2):c.2357C>G (p.Ser786Cys) http://identifiers.org/clinvar/51323 ^@ NM_000059.3(BRCA2):c.2657A>T (p.Asn886Ile) http://identifiers.org/clinvar/51373 ^@ NM_000059.3(BRCA2):c.2927_2929delCCT (p.Ser976del) http://identifiers.org/clinvar/51423 ^@ NM_000059.3(BRCA2):c.3206C>T (p.Ser1069Phe) http://identifiers.org/clinvar/51475 ^@ NM_000059.3(BRCA2):c.3496G>A (p.Val1166Ile) http://identifiers.org/clinvar/51526 ^@ NM_000059.3(BRCA2):c.379G>T (p.Ala127Ser) http://identifiers.org/clinvar/51578 ^@ NM_000059.3(BRCA2):c.3975_3978dupTGCT (p.Ala1327Cysfs) http://identifiers.org/clinvar/51630 ^@ NM_000059.3(BRCA2):c.4315G>A (p.Ala1439Thr) http://identifiers.org/clinvar/51680 ^@ NM_000059.3(BRCA2):c.4593delA (p.Val1532Leufs) http://identifiers.org/clinvar/51732 ^@ NM_000059.3(BRCA2):c.4889C>G (p.Ser1630Ter) http://identifiers.org/clinvar/51784 ^@ NM_000059.3(BRCA2):c.516+18T>C http://identifiers.org/clinvar/51835 ^@ NM_000059.3(BRCA2):c.5285A>C (p.Tyr1762Ser) http://identifiers.org/clinvar/51888 ^@ NM_000059.3(BRCA2):c.559G>A (p.Glu187Lys) http://identifiers.org/clinvar/51940 ^@ NM_000059.3(BRCA2):c.5796_5797delTA (p.His1932Glnfs) http://identifiers.org/clinvar/51992 ^@ NM_000059.3(BRCA2):c.602C>G (p.Pro201Arg) http://identifiers.org/clinvar/52043 ^@ NM_000059.3(BRCA2):c.6270_6271delTA (p.His2090Glnfs) http://identifiers.org/clinvar/52096 ^@ NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) http://identifiers.org/clinvar/53147 ^@ NM_000218.2(KCNQ1):c.958C>G (p.Pro320Ala) http://identifiers.org/clinvar/53608 ^@ NM_000492.3(CFTR):c.2953G>T (p.Asp985Tyr) http://identifiers.org/clinvar/53660 ^@ NM_000492.3(CFTR):c.3139_3139+1delGG http://identifiers.org/clinvar/53711 ^@ NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro) http://identifiers.org/clinvar/53762 ^@ NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) http://identifiers.org/clinvar/53814 ^@ NM_000492.3(CFTR):c.3808G>T (p.Asp1270Tyr) http://identifiers.org/clinvar/53866 ^@ NM_000492.3(CFTR):c.3976delT (p.Ser1326Leufs) http://identifiers.org/clinvar/53917 ^@ NM_000492.3(CFTR):c.4200_4201delTG (p.Cys1400Terfs) http://identifiers.org/clinvar/53967 ^@ NM_000492.3(CFTR):c.482A>G (p.Tyr161Cys) http://identifiers.org/clinvar/54017 ^@ NM_000492.3(CFTR):c.592G>C (p.Ala198Pro) http://identifiers.org/clinvar/54067 ^@ NM_000492.3(CFTR):c.842T>C (p.Met281Thr) http://identifiers.org/clinvar/54119 ^@ NM_007294.3(BRCA1):c.1080_1081insA (p.Ser361Ilefs) http://identifiers.org/clinvar/54169 ^@ NM_007294.3(BRCA1):c.1232_1233delAT (p.Asp411Glyfs) http://identifiers.org/clinvar/54219 ^@ NM_007294.3(BRCA1):c.135A>T (p.Lys45Asn) http://identifiers.org/clinvar/54270 ^@ NM_007294.3(BRCA1):c.1499_1508dupATAAATTAAA (p.Arg504Terfs) http://identifiers.org/clinvar/54320 ^@ NM_007294.3(BRCA1):c.1660G>T (p.Glu554Ter) http://identifiers.org/clinvar/54371 ^@ NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) http://identifiers.org/clinvar/54421 ^@ NM_007294.3(BRCA1):c.1964A>T (p.Tyr655Phe) http://identifiers.org/clinvar/54471 ^@ NM_007294.3(BRCA1):c.212G>A (p.Arg71Lys) http://identifiers.org/clinvar/54521 ^@ NM_007294.3(BRCA1):c.2283_2284delAA (p.Arg762Ilefs) http://identifiers.org/clinvar/54571 ^@ NM_007294.3(BRCA1):c.2440_2441insA (p.Leu814Hisfs) http://identifiers.org/clinvar/54621 ^@ NM_007294.3(BRCA1):c.2612dupC (p.Phe872Valfs) http://identifiers.org/clinvar/54671 ^@ NM_007294.3(BRCA1):c.2752A>C (p.Lys918Gln) http://identifiers.org/clinvar/54721 ^@ NM_007294.3(BRCA1):c.2921dupT (p.Leu974Phefs) http://identifiers.org/clinvar/54771 ^@ NM_007294.3(BRCA1):c.3108delT (p.Phe1036Leufs) http://identifiers.org/clinvar/54821 ^@ NM_007294.3(BRCA1):c.3288_3289delAA (p.Leu1098Serfs) http://identifiers.org/clinvar/54871 ^@ NM_007294.3(BRCA1):c.3410T>C (p.Met1137Thr) http://identifiers.org/clinvar/101163 ^@ NM_000090.3(COL3A1):c.682G>C (p.Gly228Arg) http://identifiers.org/clinvar/101213 ^@ NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del) http://identifiers.org/clinvar/101263 ^@ NM_000090.3(COL3A1):c.2284-2A>G (p.Gly762_Lys779del) http://identifiers.org/clinvar/101313 ^@ NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp) http://identifiers.org/clinvar/101363 ^@ NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val) http://identifiers.org/clinvar/101413 ^@ NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del) http://identifiers.org/clinvar/101463 ^@ NM_000090.3(COL3A1):c.1456-10T>G (p.Arg485_Gly486insTyrPheGln) http://identifiers.org/clinvar/101519 ^@ NM_198173.2(GRHL3):c.1419+1G>T http://identifiers.org/clinvar/102476 ^@ NM_000277.1(PAH):c.1027T>G (p.Tyr343Asp) http://identifiers.org/clinvar/102531 ^@ NM_000277.1(PAH):c.111dupG (p.Ile38Aspfs) http://identifiers.org/clinvar/102584 ^@ NM_000277.1(PAH):c.1271T>C (p.Leu424Ser) http://identifiers.org/clinvar/102638 ^@ NM_000277.1(PAH):c.241_256del16 (p.Thr81Valfs) http://identifiers.org/clinvar/102691 ^@ NM_000277.1(PAH):c.470G>T (p.Arg157Ile) http://identifiers.org/clinvar/102741 ^@ NM_000277.1(PAH):c.580_581delCT (p.Leu194Glufs) http://identifiers.org/clinvar/102792 ^@ NM_000277.1(PAH):c.706+17G>T http://identifiers.org/clinvar/102842 ^@ NM_000277.1(PAH):c.805A>C (p.Ile269Leu) http://identifiers.org/clinvar/102894 ^@ NM_000277.1(PAH):c.913-7A>G http://identifiers.org/clinvar/102952 ^@ NM_176821.3(NLRP10):c.-452T>G http://identifiers.org/clinvar/103002 ^@ NM_000246.3(CIITA):c.2945C>T (p.Ala982Val) http://identifiers.org/clinvar/103052 ^@ NM_001174081.2(NLRP2):c.2031-80G>T http://identifiers.org/clinvar/103102 ^@ NM_006092.2(NOD1):c.2454-116G>C http://identifiers.org/clinvar/103152 ^@ NM_032206.4(NLRC5):c.*285C>T http://identifiers.org/clinvar/125445 ^@ NM_001080442.2(SLC38A8):c.1234G>A (p.Gly412Arg) http://identifiers.org/clinvar/126754 ^@ NM_024675.3(PALB2):c.503C>A (p.Ser168Ter) http://identifiers.org/clinvar/126805 ^@ NM_000321.2(RB1):c.2520+1G>A http://identifiers.org/clinvar/126858 ^@ NM_004996.3(ABCC1):c.1988+890G>T http://identifiers.org/clinvar/126915 ^@ NM_001127464.2(ZNF469):c.1020C>T (p.Gly340=) http://identifiers.org/clinvar/126965 ^@ NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) http://identifiers.org/clinvar/127015 ^@ NM_002485.4(NBN):c.481-168C>T http://identifiers.org/clinvar/127065 ^@ NM_001983.3(ERCC1):c.106-83G>A http://identifiers.org/clinvar/127135 ^@ NM_005356.4(LCK):c.1022T>C (p.Leu341Pro) http://identifiers.org/clinvar/127235 ^@ NM_022166.3(XYLT1):c.1792C>T (p.Arg598Cys) http://identifiers.org/clinvar/127289 ^@ NM_000038.5(APC):c.3472A>T (p.Arg1158Ter) http://identifiers.org/clinvar/127339 ^@ NM_000051.3(ATM):c.1516G>T (p.Gly506Cys) http://identifiers.org/clinvar/127389 ^@ NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) http://identifiers.org/clinvar/127439 ^@ NM_000051.3(ATM):c.7274G>T (p.Gly2425Val) http://identifiers.org/clinvar/127490 ^@ NM_000057.3(BLM):c.2683T>G (p.Cys895Gly) http://identifiers.org/clinvar/127540 ^@ NM_000136.2(FANCC):c.355_360delTCTCATinsA (p.Ser119Asnfs) http://identifiers.org/clinvar/127590 ^@ NM_000179.2(MSH6):c.3746_3749dupACCA (p.His1250Glnfs) http://identifiers.org/clinvar/127641 ^@ NM_000251.2(MSH2):c.2801C>T (p.Thr934Met) http://identifiers.org/clinvar/127700 ^@ NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) http://identifiers.org/clinvar/127750 ^@ NM_000465.3(BARD1):c.976A>G (p.Asn326Asp) http://identifiers.org/clinvar/127801 ^@ NM_000535.6(PMS2):c.916G>A (p.Val306Met) http://identifiers.org/clinvar/159479 ^@ NM_002547.2(OPHN1):c.702+29G>A http://identifiers.org/clinvar/160850 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 http://identifiers.org/clinvar/160902 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 http://identifiers.org/clinvar/160954 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 http://identifiers.org/clinvar/161005 ^@ GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3 http://identifiers.org/clinvar/161055 ^@ GRCh38/hg38 22q13.33(chr22:50658268-50739836)x1 http://identifiers.org/clinvar/161105 ^@ NM_030777.3(SLC2A10):c.425G>T (p.Gly142Val) http://identifiers.org/clinvar/161155 ^@ NM_152296.4(ATP1A3):c.1109C>A (p.Thr370Asn) http://identifiers.org/clinvar/161387 ^@ NM_001035511.1(SDHC):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/161337 ^@ NM_000312.3(PROC):c.52G>A (p.Gly18Ser) http://identifiers.org/clinvar/161237 ^@ NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val) http://identifiers.org/clinvar/161287 ^@ NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) http://identifiers.org/clinvar/161456 ^@ NG_032173.1:g.5495_5498delGTAA http://identifiers.org/clinvar/161656 ^@ NM_007112.4(THBS3):c.1440G>T (p.Gln480His) http://identifiers.org/clinvar/161506 ^@ NM_001041.3(SI):c.2094C>A (p.Phe698Leu) http://identifiers.org/clinvar/161606 ^@ NM_003052.4(SLC34A1):c.13G>A (p.Gly5Arg) http://identifiers.org/clinvar/161806 ^@ NM_144587.3(BTBD16):c.82C>T (p.Pro28Ser) http://identifiers.org/clinvar/161556 ^@ NM_001184789.1(PARD3):c.573C>G (p.Cys191Trp) http://identifiers.org/clinvar/161706 ^@ NM_017539.2(DNAH3):c.6268C>A (p.His2090Asn) http://identifiers.org/clinvar/161756 ^@ NM_022119.3(PRSS22):c.806G>A (p.Arg269His) http://identifiers.org/clinvar/161856 ^@ NM_199340.3(LRRC37A3):c.3859delG (p.Ala1287Leufs) http://identifiers.org/clinvar/162035 ^@ NM_000663.4(ABAT):c.1433T>C (p.Leu478Pro) http://identifiers.org/clinvar/162091 ^@ NM_183357.2(ADCY5):c.2176G>A (p.Ala726Thr) http://identifiers.org/clinvar/162155 ^@ NM_001396.3(DYRK1A):c.1036T>C (p.Ser346Pro) http://identifiers.org/clinvar/162218 ^@ NM_198271.4(LMOD3):c.1099_1100delAA (p.Asn367Glnfs) http://identifiers.org/clinvar/162429 ^@ NG_007386.2:g.73292_77846del4555 http://identifiers.org/clinvar/162500 ^@ NM_000256.3(MYBPC3):c.852-1G>T http://identifiers.org/clinvar/177925 ^@ NM_206933.2(USH2A):c.14454G>A (p.Pro4818=) http://identifiers.org/clinvar/178985 ^@ NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) http://identifiers.org/clinvar/178935 ^@ NM_144573.3(NEXN):c.237T>C (p.Ala79=) http://identifiers.org/clinvar/179735 ^@ NM_206933.2(USH2A):c.1784T>C (p.Phe595Ser) http://identifiers.org/clinvar/179585 ^@ NM_133378.4(TTN):c.57015C>T (p.Asp19005=) http://identifiers.org/clinvar/179535 ^@ NM_133378.4(TTN):c.84763G>A (p.Gly28255Ser) http://identifiers.org/clinvar/178885 ^@ NM_133378.4(TTN):c.31044A>G (p.Glu10348=) http://identifiers.org/clinvar/179185 ^@ NM_133378.4(TTN):c.24362G>A (p.Arg8121Gln) http://identifiers.org/clinvar/179685 ^@ NM_001256850.1(TTN):c.22114G>A (p.Asp7372Asn) http://identifiers.org/clinvar/179485 ^@ NM_003280.2(TNNC1):c.480G>A (p.Val160=) http://identifiers.org/clinvar/177775 ^@ NM_004333.4(BRAF):c.1405G>A (p.Gly469Arg) http://identifiers.org/clinvar/178734 ^@ NM_001277115.1(DNAH11):c.11418C>T (p.Phe3806=) http://identifiers.org/clinvar/198422 ^@ NM_001252634.1(THRB):c.735C>T (p.Phe245=) http://identifiers.org/clinvar/198472 ^@ NM_001845.5(COL4A1):c.393G>A (p.Glu131=) http://identifiers.org/clinvar/198526 ^@ NM_005045.3(RELN):c.697G>A (p.Ala233Thr) http://identifiers.org/clinvar/198577 ^@ NM_018977.3(NLGN3):c.*8T>C http://identifiers.org/clinvar/198630 ^@ NM_178170.2(NEK8):c.1055G>T (p.Arg352Leu) http://identifiers.org/clinvar/198680 ^@ NM_005529.6(HSPG2):c.10937G>A (p.Arg3646His) http://identifiers.org/clinvar/198734 ^@ NM_000487.5(ARSA):c.1447G>A (p.Glu483Lys) http://identifiers.org/clinvar/198787 ^@ NM_003722.4(TP63):c.1083G>A (p.Lys361=) http://identifiers.org/clinvar/198840 ^@ NM_001281463.1(SMC1A):c.1257C>T (p.Tyr419=) http://identifiers.org/clinvar/198894 ^@ NM_020631.4(PLEKHG5):c.719A>G (p.Asp240Gly) http://identifiers.org/clinvar/198947 ^@ NM_033071.3(SYNE1):c.15650G>C (p.Gly5217Ala) http://identifiers.org/clinvar/198999 ^@ NM_000214.2(JAG1):c.1207C>T (p.Gln403Ter) http://identifiers.org/clinvar/199049 ^@ NM_001023570.3(IQCB1):c.817G>T (p.Glu273Ter) http://identifiers.org/clinvar/200943 ^@ NM_170707.3(LMNA):c.1279C>T (p.Arg427Cys) http://identifiers.org/clinvar/201192 ^@ NM_001035.2(RYR2):c.458C>T (p.Thr153Ile) http://identifiers.org/clinvar/201247 ^@ NM_001035.2(RYR2):c.4507A>G (p.Asn1503Asp) http://identifiers.org/clinvar/201301 ^@ NM_001035.2(RYR2):c.10523T>C (p.Ile3508Thr) http://identifiers.org/clinvar/201358 ^@ NM_001035.2(RYR2):c.14465G>A (p.Arg4822His) http://identifiers.org/clinvar/201124 ^@ NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) http://identifiers.org/clinvar/201528 ^@ NM_198056.2(SCN5A):c.5108G>A (p.Cys1703Tyr) http://identifiers.org/clinvar/201585 ^@ NM_198056.2(SCN5A):c.3575G>A (p.Trp1192Ter) http://identifiers.org/clinvar/201469 ^@ NM_198056.2(SCN5A):c.2048G>C (p.Cys683Ser) http://identifiers.org/clinvar/201415 ^@ NM_198056.2(SCN5A):c.1141-4C>T http://identifiers.org/clinvar/200484 ^@ NM_000238.3(KCNH2):c.2932G>T (p.Glu978Ter) http://identifiers.org/clinvar/200733 ^@ NM_000238.3(KCNH2):c.1684C>T (p.His562Tyr) http://identifiers.org/clinvar/200624 ^@ NM_000238.3(KCNH2):c.1014delC (p.Asn339Thrfs) http://identifiers.org/clinvar/200315 ^@ NM_000238.3(KCNH2):c.983G>A (p.Arg328His) http://identifiers.org/clinvar/200882 ^@ NM_000218.2(KCNQ1):c.569_582delGGCTGCGCTTTGCC (p.Arg190Profs) http://identifiers.org/clinvar/200828 ^@ NM_000218.2(KCNQ1):c.961C>T (p.Gln321Ter) http://identifiers.org/clinvar/201019 ^@ NM_130799.2(MEN1):c.358_360delAAG (p.Lys120del) http://identifiers.org/clinvar/201071 ^@ NM_002474.2(MYH11):c.4016G>A (p.Arg1339His) http://identifiers.org/clinvar/201642 ^@ NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) http://identifiers.org/clinvar/201916 ^@ NM_144573.3(NEXN):c.442G>A (p.Glu148Lys) http://identifiers.org/clinvar/201697 ^@ NM_001927.3(DES):c.640-16G>A http://identifiers.org/clinvar/201969 ^@ NM_004572.3(PKP2):c.2578-8T>G http://identifiers.org/clinvar/202031 ^@ NM_004572.3(PKP2):c.1744C>T (p.Leu582Phe) http://identifiers.org/clinvar/201808 ^@ NM_002230.2(JUP):c.209G>C (p.Gly70Ala) http://identifiers.org/clinvar/201861 ^@ NM_033118.3(MYLK2):c.281C>T (p.Pro94Leu) http://identifiers.org/clinvar/201752 ^@ NM_004006.2(DMD):c.5785G>C (p.Val1929Leu) http://identifiers.org/clinvar/202542 ^@ NM_001256850.1(TTN):c.92600_92604delTATTT (p.Ile30867Argfs) http://identifiers.org/clinvar/233211 ^@ NM_000038.5(APC):c.4710T>A (p.Asp1570Glu) http://identifiers.org/clinvar/230271 ^@ NM_000038.5(APC):c.5956C>A (p.Pro1986Thr) http://identifiers.org/clinvar/229771 ^@ NM_005732.3(RAD50):c.288G>A (p.Val96=) http://identifiers.org/clinvar/229671 ^@ NM_005732.3(RAD50):c.1651_1653dupCAA (p.Gln551_Ile552insGln) http://identifiers.org/clinvar/232761 ^@ NM_005732.3(RAD50):c.2273A>G (p.Asn758Ser) http://identifiers.org/clinvar/230521 ^@ NM_005732.3(RAD50):c.3109G>A (p.Glu1037Lys) http://identifiers.org/clinvar/232911 ^@ NM_000535.6(PMS2):c.667A>G (p.Ile223Val) http://identifiers.org/clinvar/232510 ^@ NM_002485.4(NBN):c.658C>G (p.Gln220Glu) http://identifiers.org/clinvar/234203 ^@ NM_002485.4(NBN):c.199A>G (p.Thr67Ala) http://identifiers.org/clinvar/230671 ^@ NM_000077.4(CDKN2A):c.87G>A (p.Arg29=) http://identifiers.org/clinvar/230421 ^@ NM_000077.4(CDKN2A):c.44G>A (p.Trp15Ter) http://identifiers.org/clinvar/230621 ^@ NM_004329.2(BMPR1A):c.347C>T (p.Ala116Val) http://identifiers.org/clinvar/229721 ^@ NM_000051.3(ATM):c.49C>A (p.His17Asn) http://identifiers.org/clinvar/232861 ^@ NM_000051.3(ATM):c.147C>T (p.Ser49=) http://identifiers.org/clinvar/232661 ^@ NM_000051.3(ATM):c.2838+4A>G http://identifiers.org/clinvar/230071 ^@ NM_000051.3(ATM):c.3504C>T (p.Cys1168=) http://identifiers.org/clinvar/232961 ^@ NM_000051.3(ATM):c.5583G>A (p.Leu1861=) http://identifiers.org/clinvar/232110 ^@ NM_000051.3(ATM):c.9103C>T (p.Leu3035Phe) http://identifiers.org/clinvar/230371 ^@ NM_005591.3(MRE11):c.1326_1326+8dupGGTAATTTC http://identifiers.org/clinvar/230471 ^@ NM_005591.3(MRE11):c.364G>C (p.Val122Leu) http://identifiers.org/clinvar/232210 ^@ NM_000075.3(CDK4):c.851T>C (p.Ile284Thr) http://identifiers.org/clinvar/233161 ^@ NM_000075.3(CDK4):c.567C>T (p.Ser189=) http://identifiers.org/clinvar/232560 ^@ NM_000059.3(BRCA2):c.1236C>T (p.Pro412=) http://identifiers.org/clinvar/230571 ^@ NM_000059.3(BRCA2):c.8331+2T>G http://identifiers.org/clinvar/230121 ^@ NM_000059.3(BRCA2):c.9331G>A (p.Glu3111Lys) http://identifiers.org/clinvar/229821 ^@ NM_000548.4(TSC2):c.4017C>T (p.Val1339=) http://identifiers.org/clinvar/229871 ^@ NM_024675.3(PALB2):c.3276C>T (p.Leu1092=) http://identifiers.org/clinvar/233311 ^@ NM_024675.3(PALB2):c.59A>T (p.Lys20Ile) http://identifiers.org/clinvar/230171 ^@ NM_001042492.2(NF1):c.297G>A (p.Lys99=) http://identifiers.org/clinvar/230021 ^@ NM_001042492.2(NF1):c.4472C>T (p.Ala1491Val) http://identifiers.org/clinvar/232410 ^@ NM_001042492.2(NF1):c.4578-5T>C http://identifiers.org/clinvar/232160 ^@ NM_001042492.2(NF1):c.5221C>T (p.His1741Tyr) http://identifiers.org/clinvar/232310 ^@ NM_001042492.2(NF1):c.7305C>T (p.Ser2435=) http://identifiers.org/clinvar/232711 ^@ NM_007294.3(BRCA1):c.5574C>T (p.Ile1858=) http://identifiers.org/clinvar/232360 ^@ NM_007294.3(BRCA1):c.3979C>T (p.Gln1327Ter) http://identifiers.org/clinvar/232260 ^@ NM_032043.2(BRIP1):c.3473T>G (p.Leu1158Trp) http://identifiers.org/clinvar/233111 ^@ NM_032043.2(BRIP1):c.2905+1G>A http://identifiers.org/clinvar/229921 ^@ NM_032043.2(BRIP1):c.2102T>C (p.Leu701Ser) http://identifiers.org/clinvar/232611 ^@ NM_007194.3(CHEK2):c.616G>A (p.Val206Ile) http://identifiers.org/clinvar/233261 ^@ NM_007194.3(CHEK2):c.254C>G (p.Pro85Arg) http://identifiers.org/clinvar/234977 ^@ NM_001103.3(ACTN2):c.1691C>T (p.Thr564Met) http://identifiers.org/clinvar/235028 ^@ NM_000257.3(MYH7):c.1906G>A (p.Gly636Ser) http://identifiers.org/clinvar/235078 ^@ NM_005270.4(GLI2):c.2237G>A (p.Trp746Ter) http://identifiers.org/clinvar/235213 ^@ NM_012431.2(SEMA3E):c.337-11delT http://identifiers.org/clinvar/235267 ^@ NM_032444.2(SLX4):c.4046G>C (p.Gly1349Ala) http://identifiers.org/clinvar/235321 ^@ NM_173076.2(ABCA12):c.821A>G (p.Gln274Arg) http://identifiers.org/clinvar/235374 ^@ NC_012920.1:m.9545A>G http://identifiers.org/clinvar/235427 ^@ NM_002972.3(SBF1):c.2127+4C>T http://identifiers.org/clinvar/235482 ^@ NM_198688.3(KRTAP10-6):c.107A>C (p.Asp36Ala) http://identifiers.org/clinvar/235535 ^@ NM_000136.2(FANCC):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/235586 ^@ NM_030653.3(DDX11):c.2223C>G (p.Ser741Arg) http://identifiers.org/clinvar/235636 ^@ NM_001127897.3(RPGRIP1L):c.3466C>T (p.Arg1156Cys) http://identifiers.org/clinvar/236110 ^@ NM_000350.2(ABCA4):c.4253+5G>A http://identifiers.org/clinvar/236160 ^@ NM_004621.5(TRPC6):c.2435T>C (p.Ile812Thr) http://identifiers.org/clinvar/236228 ^@ NM_016111.3(TELO2):c.779C>T (p.Pro260Leu) http://identifiers.org/clinvar/236298 ^@ NP_940980.3:p.T2423S http://identifiers.org/clinvar/242000 ^@ NM_170707.3(LMNA):c.1090G>A (p.Asp364Asn) http://identifiers.org/clinvar/239560 ^@ NM_003738.4(PTCH2):c.3139C>T (p.Arg1047Trp) http://identifiers.org/clinvar/240950 ^@ NM_014946.3(SPAST):c.1496G>A (p.Arg499His) http://identifiers.org/clinvar/241250 ^@ NM_018062.3(FANCL):c.426_438delTGCTTCTGGTAGA (p.Asp142Glufs) http://identifiers.org/clinvar/239510 ^@ NM_003124.4(SPR):c.628C>T (p.Arg210Trp) http://identifiers.org/clinvar/241000 ^@ NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) http://identifiers.org/clinvar/239407 ^@ NM_002880.3(RAF1):c.391C>T (p.Leu131=) http://identifiers.org/clinvar/240350 ^@ NM_006206.4(PDGFRA):c.420G>A (p.Val140=) http://identifiers.org/clinvar/241500 ^@ NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) http://identifiers.org/clinvar/239660 ^@ NM_004168.3(SDHA):c.1979C>G (p.Ala660Gly) http://identifiers.org/clinvar/240850 ^@ NM_012123.3(MTO1):c.922A>G (p.Thr308Ala) http://identifiers.org/clinvar/241400 ^@ NM_021930.5(RINT1):c.1985T>C (p.Leu662Ser) http://identifiers.org/clinvar/258509 ^@ NM_001999.3(FBN2):c.2249-19A>G http://identifiers.org/clinvar/261599 ^@ NM_022455.4(NSD1):c.927+48A>G http://identifiers.org/clinvar/260449 ^@ NM_014845.5(FIG4):c.2559G>A (p.Ser853=) http://identifiers.org/clinvar/260849 ^@ NM_017651.4(AHI1):c.2623+10dupT http://identifiers.org/clinvar/262199 ^@ NM_033071.3(SYNE1):c.7051-21T>A http://identifiers.org/clinvar/261099 ^@ NM_019105.6(TNXB):c.10887G>A (p.Lys3629=) http://identifiers.org/clinvar/261149 ^@ NM_019105.6(TNXB):c.6544+8T>A http://identifiers.org/clinvar/260499 ^@ NM_014989.5(RIMS1):c.648G>A (p.Ser216=) http://identifiers.org/clinvar/259609 ^@ NM_005045.3(RELN):c.473+22C>T http://identifiers.org/clinvar/261049 ^@ NM_018685.4(ANLN):c.2883+18C>A http://identifiers.org/clinvar/259259 ^@ NM_004260.3(RECQL4):c.3249C>T (p.Pro1083=) http://identifiers.org/clinvar/261299 ^@ NM_020476.2(ANK1):c.2349C>T (p.Thr783=) http://identifiers.org/clinvar/260899 ^@ NM_017780.3(CHD7):c.276C>T (p.Asn92=) http://identifiers.org/clinvar/259109 ^@ NM_003640.4(IKBKAP):c.2855A>T (p.Lys952Ile) http://identifiers.org/clinvar/261199 ^@ NM_019892.5(INPP5E):c.1550-14C>T http://identifiers.org/clinvar/261399 ^@ NM_020975.4(RET):c.868-6C>T http://identifiers.org/clinvar/261549 ^@ NM_022124.5(CDH23):c.4488+32C>G http://identifiers.org/clinvar/258809 ^@ NM_002778.3(PSAP):c.1350+5G>A http://identifiers.org/clinvar/259409 ^@ NM_004523.3(KIF11):c.2153A>T (p.His718Leu) http://identifiers.org/clinvar/259459 ^@ NM_004621.5(TRPC6):c.2142G>A (p.Thr714=) http://identifiers.org/clinvar/260799 ^@ NM_016952.4(CDON):c.3662T>A (p.Ile1221Asn) http://identifiers.org/clinvar/263288 ^@ NM_207122.1(EXT2):c.1663-500G>C http://identifiers.org/clinvar/261749 ^@ NM_024649.4(BBS1):c.1626A>G (p.Pro542=) http://identifiers.org/clinvar/258559 ^@ NM_002180.2(IGHMBP2):c.1538-8C>G http://identifiers.org/clinvar/261249 ^@ NM_020376.3(PNPLA2):c.919+4C>T http://identifiers.org/clinvar/258659 ^@ NM_002465.3(MYBPC1):c.179-20_179-12delTCCTCCTTT http://identifiers.org/clinvar/260749 ^@ NM_016569.3(TBX3):c.171G>A (p.Pro57=) http://identifiers.org/clinvar/259059 ^@ NM_003482.3(KMT2D):c.4518C>A (p.Thr1506=) http://identifiers.org/clinvar/254710 ^@ NM_000020.2(ACVRL1):c.314-35A>G http://identifiers.org/clinvar/258859 ^@ NM_002905.3(RDH5):c.97A>G (p.Ile33Val) http://identifiers.org/clinvar/255160 ^@ NM_000123.3(ERCC5):c.264+7G>A http://identifiers.org/clinvar/260399 ^@ NM_014363.5(SACS):c.7528G>A (p.Ala2510Thr) http://identifiers.org/clinvar/254760 ^@ NM_000053.3(ATP7B):c.1620C>T (p.Leu540=) http://identifiers.org/clinvar/258709 ^@ NM_002471.3(MYH6):c.2292+18C>T http://identifiers.org/clinvar/254860 ^@ NM_000070.2(CAPN3):c.1525-35delC http://identifiers.org/clinvar/332555 ^@ NM_003659.3(AGPS):c.*1862_*1867delATGCAT http://identifiers.org/clinvar/334996 ^@ NM_000751.2(CHRND):c.*1240T>C http://identifiers.org/clinvar/332605 ^@ NM_003659.3(AGPS):c.*5155C>T http://identifiers.org/clinvar/336085 ^@ NM_022437.2(ABCG8):c.1569A>G (p.Pro523=) http://identifiers.org/clinvar/336335 ^@ NM_139279.5(MCFD2):c.*2675C>G http://identifiers.org/clinvar/336592 ^@ NM_001135659.2(NRXN1):c.-1444_-1441delTTTC http://identifiers.org/clinvar/336792 ^@ NM_002056.3(GFPT1):c.*5325T>G http://identifiers.org/clinvar/333594 ^@ NM_020919.3(ALS2):c.2712G>A (p.Thr904=) http://identifiers.org/clinvar/336185 ^@ NM_000341.3(SLC3A1):c.166G>A (p.Glu56Lys) http://identifiers.org/clinvar/336285 ^@ NM_001430.4(EPAS1):c.*111A>G http://identifiers.org/clinvar/334145 ^@ NM_000384.2(APOB):c.4216+4A>G http://identifiers.org/clinvar/333994 ^@ NM_001608.3(ACADL):c.651G>A (p.Ala217=) http://identifiers.org/clinvar/337242 ^@ NM_000821.6(GGCX):c.*598C>T http://identifiers.org/clinvar/336542 ^@ NM_001135659.2(NRXN1):c.3766C>T (p.Arg1256Cys) http://identifiers.org/clinvar/334095 ^@ NM_000384.2(APOB):c.11571G>A (p.Val3857=) http://identifiers.org/clinvar/337492 ^@ NM_017849.3(TMEM127):c.*760dupA http://identifiers.org/clinvar/336842 ^@ NM_002056.3(GFPT1):c.*2219C>T http://identifiers.org/clinvar/334546 ^@ NM_015311.2(OBSL1):c.-97A>G http://identifiers.org/clinvar/334346 ^@ NM_015488.4(PNKD):c.*1118T>A http://identifiers.org/clinvar/334596 ^@ NM_003590.4(CUL3):c.*2469G>C http://identifiers.org/clinvar/334496 ^@ NM_015311.2(OBSL1):c.3561T>C (p.Pro1187=) http://identifiers.org/clinvar/342682 ^@ NM_020754.3(ARHGAP31):c.*269A>G http://identifiers.org/clinvar/334946 ^@ NM_152383.4(DIS3L2):c.2207C>T (p.Ala736Val) http://identifiers.org/clinvar/337392 ^@ NM_004836.6(EIF2AK3):c.*459G>T http://identifiers.org/clinvar/342782 ^@ NM_001023570.3(IQCB1):c.482A>G (p.Gln161Arg) http://identifiers.org/clinvar/337442 ^@ NM_144563.2(RPIA):c.*712T>C http://identifiers.org/clinvar/342832 ^@ NM_053025.3(MYLK):c.*1262_*1265delGTGT http://identifiers.org/clinvar/335096 ^@ NM_004369.3(COL6A3):c.9329-4A>T http://identifiers.org/clinvar/337542 ^@ NM_014014.4(SNRNP200):c.4424G>A (p.Arg1475His) http://identifiers.org/clinvar/334746 ^@ NM_000092.4(COL4A4):c.-527G>A http://identifiers.org/clinvar/337592 ^@ NM_020184.3(CNNM4):c.2154C>T (p.Asn718=) http://identifiers.org/clinvar/334796 ^@ NM_000091.4(COL4A3):c.*647T>G http://identifiers.org/clinvar/342982 ^@ NM_000373.3(UMPS):c.*2706_*2713dupTGTGTGTG http://identifiers.org/clinvar/342382 ^@ NM_033084.4(FANCD2):c.*44C>T http://identifiers.org/clinvar/335196 ^@ NM_004544.3(NDUFA10):c.*389C>T http://identifiers.org/clinvar/334846 ^@ NM_025243.3(SLC19A3):c.*1792C>T http://identifiers.org/clinvar/335246 ^@ NM_004321.7(KIF1A):c.*552G>A http://identifiers.org/clinvar/335296 ^@ NM_000030.2(AGXT):c.524+3G>A http://identifiers.org/clinvar/343332 ^@ NM_014382.3(ATP2C1):c.2598G>A (p.Lys866=) http://identifiers.org/clinvar/335146 ^@ NM_004369.3(COL6A3):c.414C>T (p.Ala138=) http://identifiers.org/clinvar/342582 ^@ NM_198196.2(CD96):c.*2064C>T http://identifiers.org/clinvar/343532 ^@ NM_024334.2(TMEM43):c.*1160A>G http://identifiers.org/clinvar/342732 ^@ NM_020754.3(ARHGAP31):c.*3123A>G http://identifiers.org/clinvar/343032 ^@ NM_000373.3(UMPS):c.*4486G>A http://identifiers.org/clinvar/335985 ^@ NM_005633.3(SOS1):c.*2063_*2066dupACAG http://identifiers.org/clinvar/343132 ^@ NM_032638.4(GATA2):c.*84A>G http://identifiers.org/clinvar/336035 ^@ NM_022436.2(ABCG5):c.1850C>G (p.Thr617Arg) http://identifiers.org/clinvar/336135 ^@ NM_133259.3(LRPPRC):c.*577G>T http://identifiers.org/clinvar/350751 ^@ NM_001999.3(FBN2):c.*273T>C http://identifiers.org/clinvar/350801 ^@ NM_001999.3(FBN2):c.-435C>T http://identifiers.org/clinvar/358077 ^@ NM_181714.3(LCA5):c.*903A>G http://identifiers.org/clinvar/358127 ^@ NM_022726.3(ELOVL4):c.*1048G>A http://identifiers.org/clinvar/358227 ^@ NM_006416.4(SLC35A1):c.*525_*528dupAACT http://identifiers.org/clinvar/355138 ^@ NM_002667.4(PLN):c.*90G>A http://identifiers.org/clinvar/358527 ^@ NM_000441.1(SLC26A4):c.*2047A>G http://identifiers.org/clinvar/358677 ^@ NM_001127500.2(MET):c.-180C>A http://identifiers.org/clinvar/355688 ^@ NM_203395.2(IYD):c.*241G>A http://identifiers.org/clinvar/358777 ^@ NM_006193.2(PAX4):c.*514_*521delACACTGACinsTGAT http://identifiers.org/clinvar/355788 ^@ NM_203395.2(IYD):c.*6088G>T http://identifiers.org/clinvar/355888 ^@ NM_033071.3(SYNE1):c.10848A>C (p.Gln3616His) http://identifiers.org/clinvar/356188 ^@ NM_001080.3(ALDH5A1):c.*2861G>A http://identifiers.org/clinvar/351940 ^@ NM_000440.2(PDE6A):c.*2662A>G http://identifiers.org/clinvar/356238 ^@ NM_000434.3(NEU1):c.-49C>T http://identifiers.org/clinvar/360116 ^@ NM_133468.4(BMPER):c.1818C>A (p.Thr606=) http://identifiers.org/clinvar/353248 ^@ NM_014324.5(AMACR):c.*449T>C http://identifiers.org/clinvar/353298 ^@ NM_002185.3(IL7R):c.*1702A>C http://identifiers.org/clinvar/360916 ^@ NM_000466.2(PEX1):c.3250A>G (p.Met1084Val) http://identifiers.org/clinvar/360966 ^@ NM_000089.3(COL1A2):c.3014G>A (p.Arg1005His) http://identifiers.org/clinvar/353148 ^@ NM_014244.4(ADAMTS2):c.68_70delTGC (p.Leu23del) http://identifiers.org/clinvar/353498 ^@ NM_000514.3(GDNF):c.*1534G>A http://identifiers.org/clinvar/353698 ^@ NM_000163.4(GHR):c.*692C>A http://identifiers.org/clinvar/353848 ^@ NM_002203.3(ITGA2):c.*3308_*3310delCCT http://identifiers.org/clinvar/306322 ^@ NM_032273.3(TMEM126A):c.-16G>C http://identifiers.org/clinvar/306372 ^@ NM_012193.3(FZD4):c.*2619T>C http://identifiers.org/clinvar/306422 ^@ NM_001814.5(CTSC):c.948G>C (p.Leu316=) http://identifiers.org/clinvar/361066 ^@ NM_017890.4(VPS13B):c.5344G>A (p.Ala1782Thr) http://identifiers.org/clinvar/361116 ^@ NM_017890.4(VPS13B):c.*1207G>C http://identifiers.org/clinvar/306822 ^@ NM_024312.4(GNPTAB):c.54T>C (p.Tyr18=) http://identifiers.org/clinvar/307861 ^@ NM_172364.4(CACNA2D4):c.1497G>A (p.Ser499=) http://identifiers.org/clinvar/307961 ^@ NM_006446.4(SLCO1B1):c.*40C>G http://identifiers.org/clinvar/308511 ^@ NM_004572.3(PKP2):c.1231G>A (p.Val411Ile) http://identifiers.org/clinvar/301307 ^@ NM_033100.3(CDHR1):c.*2357G>A http://identifiers.org/clinvar/301357 ^@ NM_004329.2(BMPR1A):c.*85G>A http://identifiers.org/clinvar/301507 ^@ NM_001613.2(ACTA2):c.808+14G>A http://identifiers.org/clinvar/308811 ^@ NM_001017535.1(VDR):c.*2974A>T http://identifiers.org/clinvar/301557 ^@ NM_000235.3(LIPA):c.*858A>C http://identifiers.org/clinvar/301607 ^@ NM_014391.2(ANKRD1):c.346-21_346-20dupAT http://identifiers.org/clinvar/308911 ^@ NM_001844.4(COL2A1):c.3494C>T (p.Pro1165Leu) http://identifiers.org/clinvar/308961 ^@ NM_000289.5(PFKM):c.*134G>A http://identifiers.org/clinvar/301807 ^@ NM_138413.3(HOGA1):c.*313A>C http://identifiers.org/clinvar/366415 ^@ NM_000459.4(TEK):c.1172C>T (p.Thr391Ile) http://identifiers.org/clinvar/310000 ^@ NM_000785.3(CYP27B1):c.788T>G (p.Phe263Cys) http://identifiers.org/clinvar/366465 ^@ NM_000459.4(TEK):c.*381C>G http://identifiers.org/clinvar/366565 ^@ NM_005802.4(TOPORS):c.2347G>C (p.Gly783Arg) http://identifiers.org/clinvar/310350 ^@ NM_000239.2(LYZ):c.*565G>T http://identifiers.org/clinvar/366615 ^@ NM_001497.3(B4GALT1):c.*2172_*2176delGTTGT http://identifiers.org/clinvar/310400 ^@ NM_173353.3(TPH2):c.*705G>A http://identifiers.org/clinvar/366815 ^@ NM_005476.5(GNE):c.*1575C>T http://identifiers.org/clinvar/310705 ^@ NM_002108.3(HAL):c.1763+9A>C http://identifiers.org/clinvar/310755 ^@ NM_003276.2(TMPO):c.-234T>C http://identifiers.org/clinvar/311055 ^@ NM_001845.5(COL4A1):c.2160C>T (p.Gly720=) http://identifiers.org/clinvar/312894 ^@ NM_000257.3(MYH7):c.4828G>A (p.Glu1610Lys) http://identifiers.org/clinvar/312994 ^@ NM_000359.2(TGM1):c.177C>T (p.Asp59=) http://identifiers.org/clinvar/313044 ^@ NM_025152.2(NUBPL):c.*836C>G http://identifiers.org/clinvar/313394 ^@ NM_000161.2(GCH1):c.509+8T>A http://identifiers.org/clinvar/313444 ^@ NM_005982.3(SIX1):c.*1079T>A http://identifiers.org/clinvar/315483 ^@ NM_002420.5(TRPM1):c.*447G>C http://identifiers.org/clinvar/313594 ^@ NM_182914.2(SYNE2):c.14057A>G (p.Glu4686Gly) http://identifiers.org/clinvar/315633 ^@ NM_018648.3(NOP10):c.*45G>C http://identifiers.org/clinvar/315683 ^@ NM_005159.4(ACTC1):c.*708G>T http://identifiers.org/clinvar/315733 ^@ NM_152594.2(SPRED1):c.564G>A (p.Met188Ile) http://identifiers.org/clinvar/323568 ^@ NM_000419.4(ITGA2B):c.625-7C>T http://identifiers.org/clinvar/323668 ^@ NM_001123066.3(MAPT):c.*1067T>C http://identifiers.org/clinvar/323718 ^@ NM_005910.5(MAPT):c.*3361_*3363delTGT http://identifiers.org/clinvar/324018 ^@ NM_005220.2(DLX3):c.*124C>A http://identifiers.org/clinvar/324118 ^@ NM_000088.3(COL1A1):c.528C>T (p.Ser176=) http://identifiers.org/clinvar/324175 ^@ NM_015294.4(TRIM37):c.*1084C>T http://identifiers.org/clinvar/368633 ^@ NM_002637.3(PHKA1):c.*1263_*1264dupGT http://identifiers.org/clinvar/324477 ^@ NM_000334.4(SCN4A):c.*1572T>G http://identifiers.org/clinvar/324527 ^@ NM_000334.4(SCN4A):c.2854-5C>T http://identifiers.org/clinvar/324577 ^@ NM_014336.4(AIPL1):c.*1391C>T http://identifiers.org/clinvar/315383 ^@ NM_144599.4(NIPA1):c.*2148C>A http://identifiers.org/clinvar/315433 ^@ NM_022807.4(SNRPN):c.-596delC http://identifiers.org/clinvar/315583 ^@ NM_133647.1(SLC12A6):c.*1815C>T http://identifiers.org/clinvar/325616 ^@ NM_006640.4(SEPT9):c.*1847G>A http://identifiers.org/clinvar/325666 ^@ NM_138793.3(CANT1):c.*1484C>A http://identifiers.org/clinvar/325767 ^@ NM_000152.4(GAA):c.-338C>G http://identifiers.org/clinvar/371788 ^@ NM_000038.5(APC):c.4456_4458delGAT (p.Asp1486del) http://identifiers.org/clinvar/371838 ^@ NM_004168.3(SDHA):c.1414G>A (p.Glu472Lys) http://identifiers.org/clinvar/372088 ^@ NM_020975.4(RET):c.2110G>T (p.Val704Phe) http://identifiers.org/clinvar/371888 ^@ NM_006231.3(POLE):c.5173+17A>G http://identifiers.org/clinvar/371988 ^@ NM_004360.4(CDH1):c.2439+14G>A http://identifiers.org/clinvar/371938 ^@ NM_001256849.1(POLD1):c.1775+7C>T http://identifiers.org/clinvar/372145 ^@ NM_001204527.1(SSR4):c.441+1G>A http://identifiers.org/clinvar/372212 ^@ NM_013247.4(HTRA2):c.728_730delTGCinsCAT (p.Leu243_Pro244delinsProSer) http://identifiers.org/clinvar/372271 ^@ NM_032171.1(CEP78):c.1254+5G>A http://identifiers.org/clinvar/373783 ^@ NM_001103.3(ACTN2):c.65A>T (p.Gln22Leu) http://identifiers.org/clinvar/372635 ^@ NM_005633.3(SOS1):c.1459G>A (p.Glu487Lys) http://identifiers.org/clinvar/373094 ^@ NM_000539.3(RHO):c.359delG (p.Gly120Alafs) http://identifiers.org/clinvar/372374 ^@ NM_032119.3(ADGRV1):c.11122-2A>G http://identifiers.org/clinvar/372788 ^@ NM_006415.3(SPTLC1):c.992C>A (p.Ser331Tyr) http://identifiers.org/clinvar/372738 ^@ NM_017780.3(CHD7):c.6757G>T (p.Glu2253Ter) http://identifiers.org/clinvar/372481 ^@ NM_000314.6(PTEN):c.320A>T (p.Asp107Val) http://identifiers.org/clinvar/372841 ^@ NM_000536.3(RAG2):c.518A>G (p.Asn173Ser) http://identifiers.org/clinvar/372891 ^@ NM_005188.3(CBL):c.665T>C (p.Met222Thr) http://identifiers.org/clinvar/372584 ^@ NM_003476.4(CSRP3):c.364C>T (p.Arg122Ter) http://identifiers.org/clinvar/372533 ^@ NM_000359.2(TGM1):c.876+2T>C http://identifiers.org/clinvar/372425 ^@ NM_017534.5(MYH2):c.1975-1G>C http://identifiers.org/clinvar/372944 ^@ NM_000213.4(ITGB4):c.755G>T (p.Arg252Leu) http://identifiers.org/clinvar/373733 ^@ NM_013275.5(ANKRD11):c.5030_5031delAA (p.Lys1677Argfs) http://identifiers.org/clinvar/373044 ^@ NM_003079.4(SMARCE1):c.751C>T (p.Arg251Ter) http://identifiers.org/clinvar/372686 ^@ NM_002608.3(PDGFB):c.386G>A (p.Arg129His) http://identifiers.org/clinvar/372324 ^@ NM_000390.3(CHM):c.1437dupA (p.Glu480Argfs) http://identifiers.org/clinvar/372994 ^@ NM_018486.2(HDAC8):c.595T>A (p.Ser199Thr) http://identifiers.org/clinvar/373833 ^@ NG_005905.2:g.158009_169399del11391 http://identifiers.org/clinvar/373883 ^@ NG_005905.2:g.(160933_166866)_(172307_?)del http://identifiers.org/clinvar/374186 ^@ NM_000751.2(CHRND):c.822delT (p.Ser274Argfs) http://identifiers.org/clinvar/374036 ^@ NC_000003.12:g.10133799_10141895del8097 http://identifiers.org/clinvar/373986 ^@ NM_000802.3(FOLR1):c.287G>A (p.Cys96Tyr) http://identifiers.org/clinvar/374086 ^@ NM_001376.4(DYNC1H1):c.7640C>T (p.Pro2547Leu) http://identifiers.org/clinvar/374136 ^@ NM_000540.2(RYR1):c.4236C>G (p.His1412Gln) http://identifiers.org/clinvar/373936 ^@ NM_020533.2(MCOLN1):c.378C>G (p.Tyr126Ter) http://identifiers.org/clinvar/374240 ^@ NM_001346813.1(ARID1B):c.6477delT (p.Asp2161Ilefs) http://identifiers.org/clinvar/374310 ^@ NM_021209.4(NLRC4):c.512C>T (p.Ser171Phe) http://identifiers.org/clinvar/374375 ^@ NM_014191.3(SCN8A):c.4403A>G (p.Asn1468Ser) http://identifiers.org/clinvar/374478 ^@ NM_138694.3(PKHD1):c.9576C>T (p.Ser3192=) http://identifiers.org/clinvar/374528 ^@ NM_004523.3(KIF11):c.2267+4delA http://identifiers.org/clinvar/374578 ^@ NM_000530.7(MPZ):c.284T>C (p.Phe95Ser) http://identifiers.org/clinvar/374628 ^@ NM_014629.3(ARHGEF10):c.2658C>A (p.Ser886Arg) http://identifiers.org/clinvar/374678 ^@ NM_000257.3(MYH7):c.4200T>C (p.Ala1400=) http://identifiers.org/clinvar/374728 ^@ NM_005051.2(QARS):c.2068C>T (p.Arg690Cys) http://identifiers.org/clinvar/374778 ^@ NM_002661.4(PLCG2):c.3365T>A (p.Phe1122Tyr) http://identifiers.org/clinvar/374838 ^@ NM_000459.4(TEK):c.921C>A (p.Tyr307Ter) http://identifiers.org/clinvar/374888 ^@ NM_022089.3(ATP13A2):c.1550C>T (p.Thr517Ile) http://identifiers.org/clinvar/374955 ^@ NM_000238.3(KCNH2):c.872T>G (p.Met291Arg) http://identifiers.org/clinvar/375225 ^@ NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/375286 ^@ NM_005215.3(DCC):c.2260G>A (p.Val754Met) http://identifiers.org/clinvar/375392 ^@ NM_022095.3(ZNF335):c.3787G>T (p.Glu1263Ter) http://identifiers.org/clinvar/390023 ^@ NM_000090.3(COL3A1):c.3984T>C (p.Phe1328=) http://identifiers.org/clinvar/380548 ^@ NM_015929.3(LIPT1):c.315A>G (p.Thr105=) http://identifiers.org/clinvar/387134 ^@ NM_002156.4(HSPD1):c.607-10C>T http://identifiers.org/clinvar/389023 ^@ NM_000551.3(VHL):c.66G>A (p.Glu22=) http://identifiers.org/clinvar/386584 ^@ NM_004637.5(RAB7A):c.-6T>C http://identifiers.org/clinvar/380598 ^@ NM_182916.2(TRNT1):c.133C>T (p.Leu45=) http://identifiers.org/clinvar/386134 ^@ NM_000249.3(MLH1):c.1818A>T (p.Gly606=) http://identifiers.org/clinvar/391112 ^@ NM_002880.3(RAF1):c.423+12A>T http://identifiers.org/clinvar/384444 ^@ NM_001148.4(ANK2):c.1387-18A>G http://identifiers.org/clinvar/383593 ^@ NM_198056.2(SCN5A):c.4215G>T (p.Val1405=) http://identifiers.org/clinvar/384745 ^@ NM_024582.4(FAT4):c.12375G>A (p.Val4125=) http://identifiers.org/clinvar/386434 ^@ NM_006005.3(WFS1):c.1929C>T (p.Ile643=) http://identifiers.org/clinvar/386384 ^@ NM_152778.2(MFSD8):c.1035C>T (p.Ile345=) http://identifiers.org/clinvar/391912 ^@ NM_002253.2(KDR):c.2266+1G>T http://identifiers.org/clinvar/386784 ^@ NM_000142.4(FGFR3):c.1645+15G>A http://identifiers.org/clinvar/382842 ^@ NM_000038.5(APC):c.-19+20T>C http://identifiers.org/clinvar/387184 ^@ NM_000551.3(VHL):c.463+9G>A http://identifiers.org/clinvar/380749 ^@ NM_000038.5(APC):c.5298T>C (p.Asp1766=) http://identifiers.org/clinvar/388923 ^@ NM_000426.3(LAMA2):c.8244+13A>G http://identifiers.org/clinvar/389623 ^@ NM_004168.3(SDHA):c.833C>T (p.Ala278Val) http://identifiers.org/clinvar/389073 ^@ NM_033071.3(SYNE1):c.9672+11C>T http://identifiers.org/clinvar/380097 ^@ NM_001085411.2(NADK2):c.258G>A (p.Arg86=) http://identifiers.org/clinvar/383092 ^@ NM_021911.2(GABRB2):c.438C>G (p.Gly146=) http://identifiers.org/clinvar/387084 ^@ NM_022455.4(NSD1):c.7115C>A (p.Pro2372His) http://identifiers.org/clinvar/379997 ^@ NM_001085411.2(NADK2):c.-22C>T http://identifiers.org/clinvar/389173 ^@ NM_181523.2(PIK3R1):c.1814+3A>G http://identifiers.org/clinvar/391712 ^@ NM_001723.5(DST):c.4993C>T (p.Gln1665Ter) http://identifiers.org/clinvar/386234 ^@ NM_013334.3(GMPPB):c.403-16C>T http://identifiers.org/clinvar/382892 ^@ NM_033071.3(SYNE1):c.15704+20C>T http://identifiers.org/clinvar/380799 ^@ NM_024582.4(FAT4):c.12208-5C>T http://identifiers.org/clinvar/391312 ^@ NM_001851.4(COL9A1):c.1404G>A (p.Gln468=) http://identifiers.org/clinvar/386284 ^@ NM_014251.2(SLC25A13):c.849-4A>G http://identifiers.org/clinvar/383493 ^@ NM_006416.4(SLC35A1):c.-35C>T http://identifiers.org/clinvar/386884 ^@ NM_004722.3(AP4M1):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/389323 ^@ NM_024790.6(CSPP1):c.1272+15C>T http://identifiers.org/clinvar/391262 ^@ NM_000089.3(COL1A2):c.325-7C>A http://identifiers.org/clinvar/380950 ^@ NM_004408.3(DNM1):c.46C>A (p.Leu16Met) http://identifiers.org/clinvar/380347 ^@ NM_133433.3(NIPBL):c.2768G>T (p.Gly923Val) http://identifiers.org/clinvar/384144 ^@ NM_153033.4(KCTD7):c.291C>T (p.Ile97=) http://identifiers.org/clinvar/389823 ^@ NM_000093.4(COL5A1):c.4659G>A (p.Pro1553=) http://identifiers.org/clinvar/389523 ^@ NM_000445.4(PLEC):c.13674C>T (p.Tyr4558=) http://identifiers.org/clinvar/383443 ^@ NM_018249.5(CDK5RAP2):c.3954C>T (p.Asn1318=) http://identifiers.org/clinvar/381250 ^@ NM_000368.4(TSC1):c.997C>T (p.Pro333Ser) http://identifiers.org/clinvar/133305 ^@ NM_022124.5(CDH23):c.4104+4A>T http://identifiers.org/clinvar/133368 ^@ NM_024408.3(NOTCH2):c.2479+225A>G http://identifiers.org/clinvar/133418 ^@ NC_000017.11:g.7666228C>G http://identifiers.org/clinvar/133468 ^@ NM_004304.4(ALK):c.3139G>A (p.Ala1047Thr) http://identifiers.org/clinvar/133519 ^@ NM_000038.5(APC):c.3875C>T (p.Thr1292Met) http://identifiers.org/clinvar/133569 ^@ NM_152641.3(ARID2):c.4438G>C (p.Gly1480Arg) http://identifiers.org/clinvar/133619 ^@ NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) http://identifiers.org/clinvar/133669 ^@ NM_001706.4(BCL6):c.143C>T (p.Thr48Met) http://identifiers.org/clinvar/133719 ^@ NM_004333.4(BRAF):c.61G>A (p.Gly21Arg) http://identifiers.org/clinvar/133773 ^@ NM_001211.5(BUB1B):c.388C>T (p.Arg130Cys) http://identifiers.org/clinvar/133823 ^@ NM_001321786.1(CBLB):c.1949G>C (p.Ser650Thr) http://identifiers.org/clinvar/133873 ^@ NM_000075.3(CDK4):c.254G>A (p.Arg85Gln) http://identifiers.org/clinvar/133923 ^@ NM_015125.4(CIC):c.1430G>C (p.Gly477Ala) http://identifiers.org/clinvar/133973 ^@ NM_177438.2(DICER1):c.4923T>G (p.Cys1641Trp) http://identifiers.org/clinvar/134023 ^@ NM_005228.4(EGFR):c.1580G>A (p.Arg527Gln) http://identifiers.org/clinvar/134075 ^@ NM_001005862.2(ERBB2):c.50G>A (p.Arg17His) http://identifiers.org/clinvar/134125 ^@ NM_000122.1(ERCC3):c.307A>G (p.Ile103Val) http://identifiers.org/clinvar/134175 ^@ NM_000123.3(ERCC5):c.2995T>G (p.Leu999Val) http://identifiers.org/clinvar/134225 ^@ NM_004456.4(EZH2):c.848C>T (p.Thr283Met) http://identifiers.org/clinvar/134276 ^@ NM_000135.2(FANCA):c.370A>T (p.Ile124Phe) http://identifiers.org/clinvar/134326 ^@ NM_001018115.2(FANCD2):c.4301T>G (p.Val1434Gly) http://identifiers.org/clinvar/134377 ^@ NM_025133.4(FBXO11):c.124A>T (p.Thr42Ser) http://identifiers.org/clinvar/134427 ^@ NM_144997.5(FLCN):c.715C>T (p.Arg239Cys) http://identifiers.org/clinvar/134477 ^@ NM_001309883.1(GNAS):c.992_993insGCAGCCCCT (p.Pro336_Gln337insLeuGlnPro) http://identifiers.org/clinvar/134527 ^@ NM_002185.3(IL7R):c.590C>T (p.Pro197Leu) http://identifiers.org/clinvar/135217 ^@ NM_014159.6(SETD2):c.3229A>G (p.Thr1077Ala) http://identifiers.org/clinvar/135268 ^@ NM_005631.4(SMO):c.672G>T (p.Glu224Asp) http://identifiers.org/clinvar/135318 ^@ NM_001127208.2(TET2):c.1285G>A (p.Gly429Arg) http://identifiers.org/clinvar/135368 ^@ NM_000368.4(TSC1):c.3140C>T (p.Thr1047Ile) http://identifiers.org/clinvar/135419 ^@ NM_000553.4(WRN):c.1835C>G (p.Ser612Cys) http://identifiers.org/clinvar/136318 ^@ NM_018238.3(AGK):c.101+5C>T http://identifiers.org/clinvar/136369 ^@ NM_001182.4(ALDH7A1):c.193-20C>T http://identifiers.org/clinvar/187610 ^@ NM_001042492.2(NF1):c.6900A>C (p.Lys2300Asn) http://identifiers.org/clinvar/184769 ^@ NM_007294.3(BRCA1):c.2670G>T (p.Gly890=) http://identifiers.org/clinvar/184519 ^@ NM_007294.3(BRCA1):c.1215A>G (p.Ser405=) http://identifiers.org/clinvar/185419 ^@ NM_007294.3(BRCA1):c.1071A>G (p.Lys357=) http://identifiers.org/clinvar/184319 ^@ NM_007294.3(BRCA1):c.828A>G (p.Thr276=) http://identifiers.org/clinvar/187210 ^@ NM_032043.2(BRIP1):c.2873T>A (p.Leu958Gln) http://identifiers.org/clinvar/187710 ^@ NM_000455.4(STK11):c.117C>G (p.Arg39=) http://identifiers.org/clinvar/184219 ^@ NM_000455.4(STK11):c.1142G>C (p.Gly381Ala) http://identifiers.org/clinvar/186960 ^@ NM_007194.3(CHEK2):c.364delG (p.Glu122Asnfs) http://identifiers.org/clinvar/183968 ^@ NM_007194.3(CHEK2):c.296T>C (p.Leu99Pro) http://identifiers.org/clinvar/188702 ^@ NM_001018005.1(TPM1):c.639+22G>C http://identifiers.org/clinvar/189154 ^@ NM_000128.3(F11):c.1613C>T (p.Pro538Leu) http://identifiers.org/clinvar/189104 ^@ NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) http://identifiers.org/clinvar/188752 ^@ NM_024649.4(BBS1):c.436C>T (p.Arg146Ter) http://identifiers.org/clinvar/189204 ^@ NM_016035.4(COQ4):c.190C>T (p.Pro64Ser) http://identifiers.org/clinvar/189272 ^@ NM_014795.3(ZEB2):c.703delG (p.Glu235Argfs) http://identifiers.org/clinvar/189331 ^@ NM_001146077.1(CLDN14):c.242G>A (p.Arg81His) http://identifiers.org/clinvar/189421 ^@ NM_000314.6(PTEN):c.-685G>A http://identifiers.org/clinvar/189481 ^@ NM_000314.6(PTEN):c.254-2A>G http://identifiers.org/clinvar/227249 ^@ NM_000739.2(CHRM2):c.773A>G (p.Asn258Ser) http://identifiers.org/clinvar/227880 ^@ NM_016203.3(PRKAG2):c.981A>G (p.Leu327=) http://identifiers.org/clinvar/229319 ^@ NM_138691.2(TMC1):c.884+2dupT http://identifiers.org/clinvar/228480 ^@ NM_022124.5(CDH23):c.3739C>T (p.Arg1247Cys) http://identifiers.org/clinvar/228330 ^@ NM_022124.5(CDH23):c.9556C>T (p.Arg3186Ter) http://identifiers.org/clinvar/228230 ^@ NM_014000.2(VCL):c.390+11T>G http://identifiers.org/clinvar/227499 ^@ NM_007078.2(LDB3):c.897-14T>C http://identifiers.org/clinvar/227779 ^@ NM_001277269.1(OTOG):c.4206G>A (p.Ser1402=) http://identifiers.org/clinvar/228380 ^@ NM_000260.3(MYO7A):c.5845_5855delATTGCAGACAA (p.Ile1949Glyfs) http://identifiers.org/clinvar/227299 ^@ NM_019887.5(DIABLO):c.175A>G (p.Ile59Val) http://identifiers.org/clinvar/227829 ^@ NM_012226.4(P2RX2):c.1041A>C (p.Ser347=) http://identifiers.org/clinvar/229369 ^@ NM_000548.4(TSC2):c.3002G>A (p.Gly1001Glu) http://identifiers.org/clinvar/227980 ^@ NM_001199107.1(TBC1D24):c.1570C>T (p.Arg524Trp) http://identifiers.org/clinvar/227629 ^@ NM_016239.3(MYO15A):c.10121G>A (p.Arg3374His) http://identifiers.org/clinvar/228630 ^@ NM_001943.4(DSG2):c.1688T>G (p.Leu563Arg) http://identifiers.org/clinvar/227579 ^@ NM_001145809.1(MYH14):c.4417G>A (p.Val1473Met) http://identifiers.org/clinvar/227349 ^@ NM_207034.2(EDN3):c.585G>C (p.Gly195=) http://identifiers.org/clinvar/228030 ^@ NM_001039141.2(TRIOBP):c.4497T>G (p.Thr1499=) http://identifiers.org/clinvar/228580 ^@ NM_004006.2(DMD):c.3281T>C (p.Leu1094Ser) http://identifiers.org/clinvar/227048 ^@ NM_000328.2(RPGR):c.2241+11T>C http://identifiers.org/clinvar/227449 ^@ NM_002230.2(JUP):c.2086+13C>T http://identifiers.org/clinvar/227679 ^@ NM_000260.3(MYO7A):c.2181T>C (p.Phe727=) http://identifiers.org/clinvar/228280 ^@ NM_000260.3(MYO7A):c.2904G>A (p.Glu968=) http://identifiers.org/clinvar/228430 ^@ NM_001614.3(ACTG1):c.*11C>T http://identifiers.org/clinvar/234257 ^@ NM_018136.4(ASPM):c.7296dupA (p.Ala2433Serfs) http://identifiers.org/clinvar/234435 ^@ NM_018136.4(ASPM):c.6183_6184delGA (p.Lys2062Ilefs) http://identifiers.org/clinvar/234838 ^@ NM_000179.2(MSH6):c.782C>T (p.Ser261Phe) http://identifiers.org/clinvar/234687 ^@ NM_000179.2(MSH6):c.1690T>A (p.Ser564Thr) http://identifiers.org/clinvar/234888 ^@ NM_000314.6(PTEN):c.-997C>G http://identifiers.org/clinvar/234637 ^@ NM_000431.3(MVK):c.819G>A (p.Leu273=) http://identifiers.org/clinvar/234587 ^@ NM_000834.3(GRIN2B):c.2926_2928delAAG (p.Lys976del) http://identifiers.org/clinvar/234314 ^@ NM_000834.3(GRIN2B):c.1147T>A (p.Ser383Thr) http://identifiers.org/clinvar/234365 ^@ NM_000243.2(MEFV):c.2040G>T (p.Met680Ile) http://identifiers.org/clinvar/234737 ^@ NM_032043.2(BRIP1):c.316C>A (p.Arg106Ser) http://identifiers.org/clinvar/234787 ^@ NM_004655.3(AXIN2):c.1169G>A (p.Ser390Asn) http://identifiers.org/clinvar/230321 ^@ NM_001128425.1(MUTYH):c.855A>G (p.Leu285=) http://identifiers.org/clinvar/230221 ^@ NM_000251.2(MSH2):c.855C>G (p.Asn285Lys) http://identifiers.org/clinvar/232460 ^@ NM_000179.2(MSH6):c.1830G>A (p.Lys610=) http://identifiers.org/clinvar/233061 ^@ NM_000179.2(MSH6):c.3270G>C (p.Glu1090Asp) http://identifiers.org/clinvar/233361 ^@ NM_000249.3(MLH1):c.242C>G (p.Thr81Ser) http://identifiers.org/clinvar/233011 ^@ NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) http://identifiers.org/clinvar/232811 ^@ NM_000038.5(APC):c.2672T>C (p.Met891Thr) http://identifiers.org/clinvar/229971 ^@ NM_000038.5(APC):c.4015G>A (p.Gly1339Ser) http://identifiers.org/clinvar/263544 ^@ NM_001018005.1(TPM1):c.555C>T (p.Leu185=) http://identifiers.org/clinvar/263393 ^@ NM_002474.2(MYH11):c.4239C>T (p.Ala1413=) http://identifiers.org/clinvar/263341 ^@ NM_002474.2(MYH11):c.471C>T (p.Ile157=) http://identifiers.org/clinvar/264602 ^@ NM_006440.4(TXNRD2):c.1514T>A (p.Val505Asp) http://identifiers.org/clinvar/263996 ^@ NM_001456.3(FLNA):c.5550C>T (p.Phe1850=) http://identifiers.org/clinvar/263846 ^@ NM_000090.3:c.4059T>G http://identifiers.org/clinvar/264717 ^@ NM_001242896.1(DEPDC5):c.454_455delAT (p.Met152ValfsTer6) http://identifiers.org/clinvar/264772 ^@ KDM6B, PRO888SER http://identifiers.org/clinvar/264972 ^@ NM_000059.3(BRCA2):c.7007+1407C>T http://identifiers.org/clinvar/264922 ^@ NM_000059.3(BRCA2):c.7008-1390A>G http://identifiers.org/clinvar/264872 ^@ NM_000059.3(BRCA2):c.8632+1347C>T http://identifiers.org/clinvar/264822 ^@ NM_007294.3(BRCA1):c.547+791del http://identifiers.org/clinvar/265229 ^@ NM_000228.2(LAMB3):c.1132+5G>A http://identifiers.org/clinvar/265024 ^@ NM_001100.3(ACTA1):c.243G>A (p.Trp81Ter) http://identifiers.org/clinvar/265432 ^@ NM_022356.3(P3H1):c.392C>A (p.Ser131Ter) http://identifiers.org/clinvar/265077 ^@ NM_000094.3(COL7A1):c.7442G>A (p.Gly2481Asp) http://identifiers.org/clinvar/265332 ^@ NM_000426.3(LAMA2):c.6488delA (p.Lys2163Argfs) http://identifiers.org/clinvar/265482 ^@ NM_194456.1(KRIT1):c.1731-2A>G http://identifiers.org/clinvar/265127 ^@ NM_000127.2(EXT1):c.962+1G>T http://identifiers.org/clinvar/265583 ^@ NM_000051.3(ATM):c.1692T>A (p.Cys564Ter) http://identifiers.org/clinvar/265382 ^@ NM_000051.3(ATM):c.4683_4689delTTTAGAT (p.Asp1563Phefs) http://identifiers.org/clinvar/265633 ^@ NM_024675.3(PALB2):c.3017delT (p.Leu1006Terfs) http://identifiers.org/clinvar/265683 ^@ NM_004483.4(GCSH):c.226C>T (p.Gln76Ter) http://identifiers.org/clinvar/265532 ^@ NM_000833.4(GRIN2A):c.1692delG (p.Met564Ilefs) http://identifiers.org/clinvar/265178 ^@ NM_002055.4(GFAP):c.1003G>A (p.Gly335Arg) http://identifiers.org/clinvar/265282 ^@ NM_207346.2(TSEN54):c.670_671delAA (p.Lys224Glufs) http://identifiers.org/clinvar/265768 ^@ NM_021044.3(DHH):c.1027T>C (p.Cys343Arg) http://identifiers.org/clinvar/265872 ^@ NM_000384.2(APOB):c.-18G>A http://identifiers.org/clinvar/267650 ^@ NG_012772.3:g.29037_29045delAACAGTACTins5 http://identifiers.org/clinvar/267700 ^@ NM_000059.3(BRCA2):c.8488-1G>T http://identifiers.org/clinvar/267550 ^@ NM_007294.3(BRCA1):c.4485-?_5074+?del http://identifiers.org/clinvar/267500 ^@ NM_007294.3(BRCA1):c.135-?_212+?del http://identifiers.org/clinvar/267600 ^@ NM_007294.3(BRCA1):c.5333-1G>T http://identifiers.org/clinvar/267779 ^@ NM_006087.3(TUBB4A):c.845G>C (p.R282P) http://identifiers.org/clinvar/267830 ^@ 46;X;t(X;5)(q24;q13)dn http://identifiers.org/clinvar/267880 ^@ 46;XY;t(1;2)(q31.2;p15) http://identifiers.org/clinvar/267930 ^@ 46;XX;t(6:17)(q13;q21)dn http://identifiers.org/clinvar/267980 ^@ 46;XY;t(1;3)(q32.3;q21.1) http://identifiers.org/clinvar/268030 ^@ 46;XY;t(10;17)(p13;q23)dn http://identifiers.org/clinvar/268148 ^@ NM_005506.3(SCARB2):c.1412A>G (p.Glu471Gly) http://identifiers.org/clinvar/273674 ^@ NM_001759.3(CCND2):c.851T>G (p.Val284Gly) http://identifiers.org/clinvar/280151 ^@ NM_006912.5(RIT1):c.259G>C (p.Asp87His) http://identifiers.org/clinvar/290882 ^@ NM_001849.3(COL6A2):c.2538G>A (p.Glu846=) http://identifiers.org/clinvar/290933 ^@ NM_213599.2(ANO5):c.1495G>A (p.Ala499Thr) http://identifiers.org/clinvar/290983 ^@ NM_014336.4(AIPL1):c.1101T>C (p.Pro367=) http://identifiers.org/clinvar/291033 ^@ NM_004625.3(WNT7A):c.72-8C>T http://identifiers.org/clinvar/292351 ^@ NM_000302.3(PLOD1):c.2160C>T (p.Ile720=) http://identifiers.org/clinvar/292451 ^@ NM_005266.6(GJA5):c.342C>G (p.Ala114=) http://identifiers.org/clinvar/292501 ^@ NM_004698.2(PRPF3):c.1455A>G (p.Leu485=) http://identifiers.org/clinvar/292701 ^@ NM_006118.3(HAX1):c.-53delC http://identifiers.org/clinvar/292851 ^@ NM_022367.3(SEMA4A):c.1215G>T (p.Thr405=) http://identifiers.org/clinvar/292751 ^@ NM_001111.4(ADAR):c.*319delA http://identifiers.org/clinvar/292801 ^@ NM_000298.5(PKLR):c.*275C>T http://identifiers.org/clinvar/292401 ^@ NM_014874.3(MFN2):c.*1258G>A http://identifiers.org/clinvar/292651 ^@ NM_152263.3(TPM3):c.*3756dupC http://identifiers.org/clinvar/293790 ^@ NM_022089.3(ATP13A2):c.1442C>T (p.Thr481Met) http://identifiers.org/clinvar/293890 ^@ NM_002065.6(GLUL):c.*2313C>T http://identifiers.org/clinvar/292901 ^@ NM_001012331.1(NTRK1):c.*56C>G http://identifiers.org/clinvar/293840 ^@ NM_000488.3(SERPINC1):c.-57G>A http://identifiers.org/clinvar/293940 ^@ NM_002065.6(GLUL):c.*101dupT http://identifiers.org/clinvar/294290 ^@ NM_031935.2(HMCN1):c.15421G>A (p.Asp5141Asn) http://identifiers.org/clinvar/294490 ^@ NM_000186.3(CFH):c.1204C>T (p.His402Tyr) http://identifiers.org/clinvar/294540 ^@ NM_030787.3(CFHR5):c.434G>A (p.Gly145Glu) http://identifiers.org/clinvar/294640 ^@ NM_018136.4(ASPM):c.2936+11_2936+14delGAAA http://identifiers.org/clinvar/294690 ^@ NM_201253.2(CRB1):c.3878+15A>T http://identifiers.org/clinvar/294740 ^@ NM_000069.2(CACNA1S):c.2692G>A (p.Val898Met) http://identifiers.org/clinvar/293690 ^@ NM_006894.5(FMO3):c.628-6T>C http://identifiers.org/clinvar/294940 ^@ NM_003465.2(CHIT1):c.56-8C>T http://identifiers.org/clinvar/293740 ^@ NM_000639.2(FASLG):c.*32T>C http://identifiers.org/clinvar/336235 ^@ NM_001430.4(EPAS1):c.146C>A (p.Ser49Tyr) http://identifiers.org/clinvar/343632 ^@ NM_001184.3(ATR):c.-91C>G http://identifiers.org/clinvar/336642 ^@ NM_001039348.2(EFEMP1):c.-251G>C http://identifiers.org/clinvar/336692 ^@ NM_002618.3(PEX13):c.*1566A>T http://identifiers.org/clinvar/336385 ^@ NM_139279.5(MCFD2):c.-7+11T>A http://identifiers.org/clinvar/336492 ^@ NM_000145.3(FSHR):c.225-11T>C http://identifiers.org/clinvar/345221 ^@ NM_016006.4(ABHD5):c.662-10T>G http://identifiers.org/clinvar/345321 ^@ NM_182760.3(SUMF1):c.491A>T (p.Glu164Val) http://identifiers.org/clinvar/336742 ^@ NM_032180.2(FAM161A):c.706A>G (p.Ile236Val) http://identifiers.org/clinvar/336992 ^@ NM_003124.4(SPR):c.*50C>T http://identifiers.org/clinvar/345371 ^@ NM_020208.3(SLC6A20):c.*1506A>T http://identifiers.org/clinvar/337042 ^@ NM_080916.2(DGUOK):c.-21G>T http://identifiers.org/clinvar/337092 ^@ NM_004082.4(DCTN1):c.999C>G (p.Asp333Glu) http://identifiers.org/clinvar/345471 ^@ NM_024513.3(FYCO1):c.*1285G>C http://identifiers.org/clinvar/345521 ^@ NM_024513.3(FYCO1):c.1628_1629delAA (p.Lys543Argfs) http://identifiers.org/clinvar/337142 ^@ NM_013247.4(HTRA2):c.*384C>A http://identifiers.org/clinvar/337342 ^@ NM_003896.3(ST3GAL5):c.-102G>C http://identifiers.org/clinvar/337192 ^@ NM_000821.6(GGCX):c.*3752G>A http://identifiers.org/clinvar/345971 ^@ NM_002292.3(LAMB2):c.5286T>C (p.Asn1762=) http://identifiers.org/clinvar/346021 ^@ NM_000481.3(AMT):c.*696C>T http://identifiers.org/clinvar/337292 ^@ NM_198843.2(SFTPB):c.*1020C>T http://identifiers.org/clinvar/346071 ^@ NM_144499.2(GNAT1):c.*1789A>G http://identifiers.org/clinvar/345171 ^@ NM_018075.4(ANO10):c.*179C>T http://identifiers.org/clinvar/346171 ^@ NM_052859.3(RFT1):c.*645C>T http://identifiers.org/clinvar/337642 ^@ NM_001079.3(ZAP70):c.*289G>C http://identifiers.org/clinvar/345271 ^@ NM_016006.4(ABHD5):c.*3050_*3051delAA http://identifiers.org/clinvar/342282 ^@ NM_016247.3(IMPG2):c.*3599A>G http://identifiers.org/clinvar/342432 ^@ NM_000551.3(VHL):c.*1330A>G http://identifiers.org/clinvar/342482 ^@ NM_000551.3(VHL):c.*2670G>C http://identifiers.org/clinvar/345571 ^@ NM_000258.2(MYL3):c.96T>A (p.Pro32=) http://identifiers.org/clinvar/342332 ^@ NM_016247.3(IMPG2):c.*45G>A http://identifiers.org/clinvar/342532 ^@ NM_198196.2(CD96):c.939A>G (p.Glu313=) http://identifiers.org/clinvar/342632 ^@ NM_020754.3(ARHGAP31):c.473C>T (p.Ser158Phe) http://identifiers.org/clinvar/345821 ^@ NM_000094.3(COL7A1):c.6357G>A (p.Pro2119=) http://identifiers.org/clinvar/346121 ^@ NM_004656.3(BAP1):c.931+10G>C http://identifiers.org/clinvar/342882 ^@ NM_053025.3(MYLK):c.3565+7C>T http://identifiers.org/clinvar/342932 ^@ NM_000373.3(UMPS):c.1038A>G (p.Pro346=) http://identifiers.org/clinvar/343182 ^@ NM_004637.5(RAB7A):c.*1142G>A http://identifiers.org/clinvar/347710 ^@ NM_000901.4(NR3C2):c.*474_*475insTAA http://identifiers.org/clinvar/343082 ^@ NM_025265.3(TSEN2):c.1248+15G>C http://identifiers.org/clinvar/343282 ^@ NM_000539.3(RHO):c.959C>A (p.Thr320Asn) http://identifiers.org/clinvar/343432 ^@ NM_001063.3(TF):c.432C>T (p.Ser144=) http://identifiers.org/clinvar/343232 ^@ NM_052985.3(IFT122):c.228C>T (p.Ser76=) http://identifiers.org/clinvar/347910 ^@ NM_000824.4(GLRB):c.-182C>T http://identifiers.org/clinvar/347960 ^@ NM_004453.3(ETFDH):c.*53delA http://identifiers.org/clinvar/343382 ^@ NM_153240.4(NPHP3):c.2881C>G (p.Gln961Glu) http://identifiers.org/clinvar/348210 ^@ NM_000860.5(HPGD):c.-235C>A http://identifiers.org/clinvar/343482 ^@ NM_000532.4(PCCB):c.*128_*132delAAATT http://identifiers.org/clinvar/348310 ^@ NM_207352.3(CYP4V2):c.1225+14A>G http://identifiers.org/clinvar/343582 ^@ NM_001184.3(ATR):c.7471G>A (p.Val2491Ile) http://identifiers.org/clinvar/358177 ^@ NM_183050.3(BCKDHB):c.*304G>A http://identifiers.org/clinvar/358277 ^@ NM_014165.3(NDUFAF4):c.-33G>T http://identifiers.org/clinvar/358427 ^@ NM_005045.3(RELN):c.-21_-1dup21 http://identifiers.org/clinvar/358627 ^@ NM_014491.3(FOXP2):c.*285T>C http://identifiers.org/clinvar/354198 ^@ NM_003719.3(PDE8B):c.*864delA http://identifiers.org/clinvar/358727 ^@ NM_001127500.2(MET):c.*2079G>A http://identifiers.org/clinvar/359127 ^@ NM_000083.2(CLCN1):c.2786C>T (p.Thr929Ile) http://identifiers.org/clinvar/362965 ^@ NM_000037.3(ANK1):c.*1074A>G http://identifiers.org/clinvar/363015 ^@ NM_000037.3(ANK1):c.2403G>A (p.Lys801=) http://identifiers.org/clinvar/363215 ^@ NM_005914.3(MCM4):c.236-4A>G http://identifiers.org/clinvar/363365 ^@ NM_017813.4(IMPAD1):c.*2382A>G http://identifiers.org/clinvar/355188 ^@ NM_006073.3(TRDN):c.*2091A>C http://identifiers.org/clinvar/355388 ^@ NM_006208.2(ENPP1):c.*1290T>A http://identifiers.org/clinvar/355488 ^@ NM_017651.4(AHI1):c.*447T>A http://identifiers.org/clinvar/363865 ^@ NM_019098.4(CNGB3):c.*51C>T http://identifiers.org/clinvar/355288 ^@ NM_000426.3(LAMA2):c.6429+10T>G http://identifiers.org/clinvar/355588 ^@ NM_003630.2(PEX3):c.*793T>C http://identifiers.org/clinvar/359966 ^@ NM_005522.4(HOXA1):c.213C>T (p.His71=) http://identifiers.org/clinvar/360016 ^@ NM_002047.3(GARS):c.1809+14T>C http://identifiers.org/clinvar/360216 ^@ NM_000168.5(GLI3):c.*185G>A http://identifiers.org/clinvar/355738 ^@ NM_203395.2(IYD):c.*2477G>A http://identifiers.org/clinvar/355538 ^@ NM_000288.3(PEX7):c.*38G>A http://identifiers.org/clinvar/360416 ^@ NM_014855.2(AP5Z1):c.*2784C>T http://identifiers.org/clinvar/360566 ^@ NM_000048.3(ASL):c.656-5C>A http://identifiers.org/clinvar/360616 ^@ NM_153033.4(KCTD7):c.*2175C>A http://identifiers.org/clinvar/360666 ^@ NM_000501.3(ELN):c.*251C>T http://identifiers.org/clinvar/355988 ^@ NM_004562.2(PRKN):c.*2194G>A http://identifiers.org/clinvar/360716 ^@ NM_000941.2(POR):c.1759A>G (p.Arg587Gly) http://identifiers.org/clinvar/356338 ^@ NM_006929.4(SKIV2L):c.2401A>G (p.Met801Val) http://identifiers.org/clinvar/360816 ^@ NM_005751.4(AKAP9):c.1644A>G (p.Arg548=) http://identifiers.org/clinvar/356388 ^@ NM_080680.2(COL11A2):c.3850C>T (p.Arg1284Trp) http://identifiers.org/clinvar/361576 ^@ NM_014112.4(TRPS1):c.*2110G>A http://identifiers.org/clinvar/311155 ^@ NM_001846.3(COL4A2):c.3208-14A>G http://identifiers.org/clinvar/303246 ^@ NM_022370.3(ROBO3):c.1852G>A (p.Gly618Ser) http://identifiers.org/clinvar/303296 ^@ NM_152722.4(HEPACAM):c.*1278C>T http://identifiers.org/clinvar/367394 ^@ NM_033305.2(VPS13A):c.5802A>G (p.Leu1934=) http://identifiers.org/clinvar/311555 ^@ NM_014363.5(SACS):c.2497G>A (p.Glu833Lys) http://identifiers.org/clinvar/311605 ^@ NM_018451.4(CENPJ):c.*83_*85delATT http://identifiers.org/clinvar/367015 ^@ NM_001042413.1(GLIS3):c.-523C>G http://identifiers.org/clinvar/367344 ^@ NM_033305.2(VPS13A):c.283+20delA http://identifiers.org/clinvar/298518 ^@ NM_021830.4(TWNK):c.*747C>G http://identifiers.org/clinvar/367444 ^@ NM_033305.2(VPS13A):c.*942C>T http://identifiers.org/clinvar/367544 ^@ NM_006415.3(SPTLC1):c.1254+10C>T http://identifiers.org/clinvar/312444 ^@ NM_000115.4(EDNRB):c.*2309T>C http://identifiers.org/clinvar/312644 ^@ NM_001376.4(DYNC1H1):c.9210G>A (p.Pro3070=) http://identifiers.org/clinvar/312794 ^@ NM_020366.3(RPGRIP1):c.2618A>G (p.His873Arg) http://identifiers.org/clinvar/312944 ^@ NM_001099274.1(TINF2):c.*53G>A http://identifiers.org/clinvar/298568 ^@ NM_016169.3(SUFU):c.-81C>T http://identifiers.org/clinvar/298968 ^@ NM_004281.3(BAG3):c.*267C>A http://identifiers.org/clinvar/298618 ^@ NM_000102.3(CYP17A1):c.*65C>A http://identifiers.org/clinvar/313144 ^@ NM_001079668.2(NKX2-1):c.535G>T (p.Val179Leu) http://identifiers.org/clinvar/298718 ^@ NM_000494.3(COL17A1):c.2128+8A>C http://identifiers.org/clinvar/299168 ^@ NM_000274.3(OAT):c.1160-13T>A http://identifiers.org/clinvar/313244 ^@ NM_002408.3(MGAT2):c.-360G>T http://identifiers.org/clinvar/313294 ^@ NM_015915.4(ATL1):c.417+3A>G http://identifiers.org/clinvar/299268 ^@ NM_001033855.2(DCLRE1C):c.*1394C>T http://identifiers.org/clinvar/298918 ^@ NM_004132.4(HABP2):c.1177G>C (p.Glu393Gln) http://identifiers.org/clinvar/313494 ^@ NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) http://identifiers.org/clinvar/313644 ^@ NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) http://identifiers.org/clinvar/299468 ^@ NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) http://identifiers.org/clinvar/299518 ^@ NM_001081.3(CUBN):c.1926C>T (p.Asp642=) http://identifiers.org/clinvar/299618 ^@ NM_201590.2(CACNB2):c.*1965C>T http://identifiers.org/clinvar/299668 ^@ NM_017433.4(MYO3A):c.3256G>A (p.Ala1086Thr) http://identifiers.org/clinvar/299218 ^@ NM_021980.4(OPTN):c.963C>T (p.Ser321=) http://identifiers.org/clinvar/299318 ^@ NM_001033855.2(DCLRE1C):c.799T>C (p.Trp267Arg) http://identifiers.org/clinvar/315783 ^@ NM_152594.2(SPRED1):c.*4781C>A http://identifiers.org/clinvar/315133 ^@ NM_139057.3(ADAMTS17):c.*2605G>C http://identifiers.org/clinvar/309950 ^@ NM_004984.2(KIF5A):c.2927C>T (p.Thr976Ile) http://identifiers.org/clinvar/311405 ^@ NM_002010.2(FGF9):c.-712C>T http://identifiers.org/clinvar/329716 ^@ NM_000554.5(CRX):c.*679G>A http://identifiers.org/clinvar/318285 ^@ NM_003361.3(UMOD):c.1623G>T (p.Gly541=) http://identifiers.org/clinvar/318385 ^@ NM_001089.2(ABCA3):c.*312G>T http://identifiers.org/clinvar/311705 ^@ NM_004795.3(KL):c.2619T>C (p.Asn873=) http://identifiers.org/clinvar/318485 ^@ NM_153603.3(COG7):c.721C>A (p.Gln241Lys) http://identifiers.org/clinvar/318735 ^@ NM_003321.4(TUFM):c.*398G>A http://identifiers.org/clinvar/330416 ^@ NM_000208.3(INSR):c.*926_*927insG http://identifiers.org/clinvar/318785 ^@ NM_173201.3(ATP2A1):c.2310C>T (p.Gly770=) http://identifiers.org/clinvar/310600 ^@ NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) http://identifiers.org/clinvar/337742 ^@ NM_000214.2(JAG1):c.*6C>T http://identifiers.org/clinvar/310655 ^@ NM_001920.4(DCN):c.879C>T (p.Tyr293=) http://identifiers.org/clinvar/310855 ^@ NM_000282.3(PCCA):c.*158dupA http://identifiers.org/clinvar/312394 ^@ NM_000053.3(ATP7B):c.1172C>T (p.Ser391Leu) http://identifiers.org/clinvar/319335 ^@ NM_000293.2(PHKB):c.491A>G (p.Tyr164Cys) http://identifiers.org/clinvar/319385 ^@ NM_000293.2(PHKB):c.*1753G>A http://identifiers.org/clinvar/311005 ^@ NM_001845.5(COL4A1):c.*1014C>T http://identifiers.org/clinvar/338242 ^@ NM_032034.3(SLC4A11):c.1971C>T (p.Ala657=) http://identifiers.org/clinvar/312694 ^@ NM_022489.3(INF2):c.1777G>A (p.Glu593Lys) http://identifiers.org/clinvar/312744 ^@ NM_000270.3(PNP):c.*595C>T http://identifiers.org/clinvar/312844 ^@ NM_002471.3(MYH6):c.5403G>A (p.Glu1801=) http://identifiers.org/clinvar/313344 ^@ NM_001202.5(BMP4):c.*146_*148dupAAA http://identifiers.org/clinvar/339182 ^@ NM_017671.4(FERMT1):c.*1417T>C http://identifiers.org/clinvar/339332 ^@ NM_172107.3(KCNQ2):c.1281A>G (p.Gly427=) http://identifiers.org/clinvar/321175 ^@ NM_000512.4(GALNS):c.*503T>G http://identifiers.org/clinvar/321275 ^@ NM_003119.3(SPG7):c.141G>A (p.Arg47=) http://identifiers.org/clinvar/321325 ^@ NM_000135.2(FANCA):c.4302C>T (p.Ala1434=) http://identifiers.org/clinvar/321375 ^@ NM_000135.2(FANCA):c.59G>A (p.Arg20Lys) http://identifiers.org/clinvar/321525 ^@ NM_000833.4(GRIN2A):c.*5740A>C http://identifiers.org/clinvar/312494 ^@ NM_052910.2(SLITRK1):c.*167C>G http://identifiers.org/clinvar/312544 ^@ NM_005708.4(GPC6):c.1137A>C (p.Thr379=) http://identifiers.org/clinvar/326467 ^@ NM_001943.4(DSG2):c.-55G>C http://identifiers.org/clinvar/368333 ^@ NM_003334.3(UBA1):c.1137C>T (p.Asp379=) http://identifiers.org/clinvar/368383 ^@ NM_153380.3(ZNF41):c.-300_-295dupGCACGC http://identifiers.org/clinvar/368483 ^@ NM_000084.4(CLCN5):c.1263C>T (p.Gly421=) http://identifiers.org/clinvar/368533 ^@ NM_000084.4(CLCN5):c.*6278_*6280dupGTA http://identifiers.org/clinvar/329666 ^@ NM_025136.3(OPA3):c.*922G>T http://identifiers.org/clinvar/329766 ^@ NM_000554.5(CRX):c.*2573C>T http://identifiers.org/clinvar/329866 ^@ NM_017636.3(TRPM4):c.2674C>T (p.Arg892Cys) http://identifiers.org/clinvar/330066 ^@ NM_002739.4(PRKCG):c.1722C>T (p.Tyr574=) http://identifiers.org/clinvar/330366 ^@ NM_000208.3(INSR):c.*3463A>G http://identifiers.org/clinvar/337842 ^@ NM_024411.4(PDYN):c.-162A>G http://identifiers.org/clinvar/329816 ^@ NM_002103.4(GYS1):c.1145G>A (p.Gly382Asp) http://identifiers.org/clinvar/329916 ^@ NM_024729.3(MYH14):c.1966G>A (p.Gly656Ser) http://identifiers.org/clinvar/330016 ^@ NM_144687.3(NLRP12):c.2576G>A (p.Arg859Gln) http://identifiers.org/clinvar/337692 ^@ NM_018848.3(MKKS):c.463C>T (p.Arg155Cys) http://identifiers.org/clinvar/337792 ^@ NM_006363.4(SEC23B):c.1198T>C (p.Phe400Leu) http://identifiers.org/clinvar/338192 ^@ NM_006892.3(DNMT3B):c.*443C>T http://identifiers.org/clinvar/339282 ^@ NM_001853.3(COL9A3):c.931G>A (p.Val311Met) http://identifiers.org/clinvar/382942 ^@ NM_000368.4(TSC1):c.110G>A (p.Arg37His) http://identifiers.org/clinvar/383643 ^@ NM_007327.3(GRIN1):c.1548G>A (p.Pro516=) http://identifiers.org/clinvar/384845 ^@ NM_014141.5(CNTNAP2):c.234C>T (p.Asp78=) http://identifiers.org/clinvar/387034 ^@ NM_014391.2(ANKRD1):c.49A>G (p.Asn17Asp) http://identifiers.org/clinvar/389223 ^@ NM_001101426.3(ISPD):c.790-14T>C http://identifiers.org/clinvar/385095 ^@ NM_006393.2(NEBL):c.2412T>C (p.Pro804=) http://identifiers.org/clinvar/391662 ^@ NM_014317.4(PDSS1):c.832-15C>T http://identifiers.org/clinvar/391962 ^@ NM_203447.3(DOCK8):c.1839A>G (p.Glu613=) http://identifiers.org/clinvar/384494 ^@ NM_001909.4(CTSD):c.705-4C>T http://identifiers.org/clinvar/389723 ^@ NM_000048.3(ASL):c.399G>A (p.Ser133=) http://identifiers.org/clinvar/385195 ^@ NM_201590.2(CACNB2):c.1326+8G>A http://identifiers.org/clinvar/383543 ^@ NM_000445.4(PLEC):c.6022C>T (p.Arg2008Trp) http://identifiers.org/clinvar/384895 ^@ NM_005343.3(HRAS):c.450+124C>T http://identifiers.org/clinvar/386484 ^@ NM_014191.3(SCN8A):c.4446C>T (p.Thr1482=) http://identifiers.org/clinvar/392112 ^@ NM_005888.3(SLC25A3):c.-5+17C>A http://identifiers.org/clinvar/389773 ^@ NM_020822.2(KCNT1):c.2674G>A (p.Glu892Lys) http://identifiers.org/clinvar/380849 ^@ NM_024678.5(NARS2):c.720G>A (p.Pro240=) http://identifiers.org/clinvar/391062 ^@ NM_021625.4(TRPV4):c.126G>A (p.Gly42=) http://identifiers.org/clinvar/383994 ^@ NM_032634.3(PIGO):c.300C>T (p.Phe100=) http://identifiers.org/clinvar/389923 ^@ NM_005249.4(FOXG1):c.477G>A (p.Ala159=) http://identifiers.org/clinvar/390073 ^@ NM_182476.2(COQ6):c.204C>T (p.Leu68=) http://identifiers.org/clinvar/386984 ^@ NM_001003800.1(BICD2):c.72C>G (p.Ala24=) http://identifiers.org/clinvar/384645 ^@ NM_014191.3(SCN8A):c.996A>G (p.Gln332=) http://identifiers.org/clinvar/383744 ^@ NM_033056.3(PCDH15):c.3877C>A (p.Arg1293=) http://identifiers.org/clinvar/391362 ^@ NM_020987.4(ANK3):c.2143G>A (p.Val715Ile) http://identifiers.org/clinvar/383393 ^@ NM_005902.3(SMAD3):c.207-26869C>A http://identifiers.org/clinvar/386534 ^@ NM_000059.3(BRCA2):c.3720G>A (p.Leu1240=) http://identifiers.org/clinvar/391412 ^@ NM_002471.3(MYH6):c.3732+13C>T http://identifiers.org/clinvar/387284 ^@ NM_001376.4(DYNC1H1):c.1191C>T (p.Gly397=) http://identifiers.org/clinvar/386684 ^@ NM_002474.2(MYH11):c.4680C>T (p.Asp1560=) http://identifiers.org/clinvar/390762 ^@ NM_002474.2(MYH11):c.2599C>A (p.Arg867=) http://identifiers.org/clinvar/380698 ^@ NM_000548.4(TSC2):c.3468A>G (p.Pro1156=) http://identifiers.org/clinvar/384344 ^@ NM_000138.4(FBN1):c.6724C>T (p.Arg2242Cys) http://identifiers.org/clinvar/380147 ^@ NM_001085372.2(UQCC3):c.265G>A (p.Gly89Ser) http://identifiers.org/clinvar/380498 ^@ NM_005050.3(ABCD4):c.492C>G (p.Leu164=) http://identifiers.org/clinvar/391812 ^@ NM_000293.2(PHKB):c.1759A>C (p.Met587Leu) http://identifiers.org/clinvar/392012 ^@ NM_020778.4(ALPK3):c.2294T>G (p.Met765Arg) http://identifiers.org/clinvar/390812 ^@ NM_004360.4(CDH1):c.2296-19C>T http://identifiers.org/clinvar/385245 ^@ NM_016373.3(WWOX):c.1056+16C>A http://identifiers.org/clinvar/390912 ^@ NM_007347.4(AP4E1):c.1566C>G (p.Ser522=) http://identifiers.org/clinvar/381000 ^@ NM_002474.2(MYH11):c.1566C>T (p.Ile522=) http://identifiers.org/clinvar/383042 ^@ NM_174917.4(ACSF3):c.-187C>T http://identifiers.org/clinvar/385045 ^@ NM_000548.4(TSC2):c.83C>A (p.Pro28His) http://identifiers.org/clinvar/384094 ^@ NM_000135.2(FANCA):c.1489C>T (p.Pro497Ser) http://identifiers.org/clinvar/47549 ^@ NM_001256850.1(TTN):c.90160G>A (p.Gly30054Arg) http://identifiers.org/clinvar/47599 ^@ NM_001267550.2(TTN):c.98299_98300delAG (p.Arg32767Glyfs) http://identifiers.org/clinvar/47649 ^@ NM_133378.4(TTN):c.94724T>C (p.Met31575Thr) http://identifiers.org/clinvar/47699 ^@ NM_133378.4(TTN):c.98065G>A (p.Glu32689Lys) http://identifiers.org/clinvar/47749 ^@ NM_133379.4(TTN):c.13165G>A (p.Val4389Ile) http://identifiers.org/clinvar/48051 ^@ NM_170707.3(LMNA):c.1773C>T (p.Cys591=) http://identifiers.org/clinvar/48101 ^@ NM_172058.3(EYA1):c.1278C>T (p.Gly426=) http://identifiers.org/clinvar/48151 ^@ NM_178335.2(CCDC50):c.1269C>A (p.Ser423=) http://identifiers.org/clinvar/48201 ^@ NM_194248.2(OTOF):c.2523+5G>A http://identifiers.org/clinvar/48251 ^@ NM_194248.2(OTOF):c.5091G>A (p.Pro1697=) http://identifiers.org/clinvar/48301 ^@ NM_198056.2(SCN5A):c.354C>T (p.His118=) http://identifiers.org/clinvar/48352 ^@ NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg) http://identifiers.org/clinvar/48402 ^@ NM_206933.2(USH2A):c.12608A>G (p.Gln4203Arg) http://identifiers.org/clinvar/48452 ^@ NM_206933.2(USH2A):c.15038C>T (p.Thr5013Ile) http://identifiers.org/clinvar/48503 ^@ NM_007123.5(USH2A):c.3547_3548delAT (p.Ile1183Phefs) http://identifiers.org/clinvar/54 ^@ NM_152269.4(C12orf65):c.210delA (p.Gly72Alafs) http://identifiers.org/clinvar/376 ^@ NM_000308.3(CTSA):c.746+3A>G http://identifiers.org/clinvar/503 ^@ NM_001010892.2(RSPH4A):c.460C>T (p.Gln154Ter) http://identifiers.org/clinvar/572 ^@ NM_000893.3(KNG1):c.586C>T (p.Arg196Ter) http://identifiers.org/clinvar/988 ^@ SUCLG1, 2-BP DEL, 113AT http://identifiers.org/clinvar/997 ^@ NM_000380.3(XPA):c.348T>A (p.Tyr116Ter) http://identifiers.org/clinvar/1091 ^@ NM_017791.2(FLVCR2):c.839C>G (p.Pro280Arg) http://identifiers.org/clinvar/1100 ^@ NM_000642.2(AGL):c.1735+1G>T http://identifiers.org/clinvar/1142 ^@ NM_001142617.1(STRA6):c.69G>A (p.Trp23Ter) http://identifiers.org/clinvar/1188 ^@ NM_001077620.2(PRCD):c.5G>A (p.Cys2Tyr) http://identifiers.org/clinvar/1232 ^@ NM_152419.2(HGSNAT):c.848C>T (p.Pro283Leu) http://identifiers.org/clinvar/1283 ^@ NM_032790.3(ORAI1):c.271C>T (p.Arg91Trp) http://identifiers.org/clinvar/1328 ^@ NM_024685.3(BBS10):c.271dupT (p.Cys91Leufs) http://identifiers.org/clinvar/2738 ^@ NM_004183.3(BEST1):c.140G>A (p.Arg47His) http://identifiers.org/clinvar/2783 ^@ NM_000158.3(GBE1):c.993-?_1618+?del http://identifiers.org/clinvar/2828 ^@ VPS13B, EX6-16DEL http://identifiers.org/clinvar/2873 ^@ NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) http://identifiers.org/clinvar/2919 ^@ NM_024077.4(SECISBP2):c.1619G>A (p.Arg540Gln) http://identifiers.org/clinvar/2964 ^@ NM_000271.4(NPC1):c.3263A>G (p.Tyr1088Cys) http://identifiers.org/clinvar/3009 ^@ NM_000226.3(KRT9):c.482A>T (p.Asn161Ile) http://identifiers.org/clinvar/3058 ^@ NM_000487.5(ARSA):c.1210+1G>A http://identifiers.org/clinvar/3106 ^@ NM_005670.3(EPM2A):c.950dupT (p.Gln319Profs) http://identifiers.org/clinvar/3158 ^@ NM_172250.2(MMAA):c.283C>T (p.Gln95Ter) http://identifiers.org/clinvar/3203 ^@ NM_001079802.1(FKTN):c.1167dupA (p.Phe390Ilefs) http://identifiers.org/clinvar/3251 ^@ POMT1, IVS12DS, G-A, +1 http://identifiers.org/clinvar/3298 ^@ NC_000022.11:g.(29668447_29671826)_(29681601_?)del http://identifiers.org/clinvar/3342 ^@ NM_000348.3(SRD5A2):c.679C>T (p.Arg227Ter) http://identifiers.org/clinvar/10406 ^@ NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) http://identifiers.org/clinvar/10455 ^@ COL4A5, 10-15-KB INS, 40-KB DEL http://identifiers.org/clinvar/10501 ^@ NM_000202.7(IDS):c.349_351delTCC (p.Ser117del) http://identifiers.org/clinvar/10548 ^@ RP2, 1-BP DEL http://identifiers.org/clinvar/10593 ^@ NM_000133.3(F9):c.682G>T (p.Val228Phe) http://identifiers.org/clinvar/10638 ^@ F9, 1-BP DEL, ASP85FS http://identifiers.org/clinvar/10684 ^@ NM_000266.3(NDP):c.370C>T (p.Leu124Phe) http://identifiers.org/clinvar/10729 ^@ NM_000169.2(GLA):c.606T>G (p.Cys202Trp) http://identifiers.org/clinvar/10774 ^@ NM_000169.2(GLA):c.815A>G (p.Asn272Ser) http://identifiers.org/clinvar/10819 ^@ NM_000444.5(PHEX):c.1664T>C (p.Leu555Pro) http://identifiers.org/clinvar/10864 ^@ NM_001111125.2(IQSEC2):c.2273G>A (p.Arg758Gln) http://identifiers.org/clinvar/10955 ^@ NR0B1, 1-BP DEL http://identifiers.org/clinvar/11045 ^@ NM_001399.4(EDA):c.1072C>G (p.Gln358Glu) http://identifiers.org/clinvar/11090 ^@ NM_001128834.2(PLP1):c.434G>A (p.Trp145Ter) http://identifiers.org/clinvar/11135 ^@ WAS, 1-BP DEL, CODON 241, C http://identifiers.org/clinvar/11181 ^@ NM_002621.2(CFP):c.481C>T (p.Arg161Ter) http://identifiers.org/clinvar/11226 ^@ DMD, IVS19, A-C, +3 http://identifiers.org/clinvar/11271 ^@ DMD, 4-BP DEL, NT9679 http://identifiers.org/clinvar/11316 ^@ ABCD1, IVS1DS, G-A, -1 http://identifiers.org/clinvar/11362 ^@ NM_000061.2(BTK):c.755G>A (p.Trp252Ter) http://identifiers.org/clinvar/11722 ^@ NM_000489.4(ATRX):c.4840T>C (p.Cys1614Arg) http://identifiers.org/clinvar/11774 ^@ NM_001110556.1(FLNA):c.3872C>T (p.Pro1291Leu) http://identifiers.org/clinvar/11824 ^@ NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) http://identifiers.org/clinvar/11874 ^@ NM_000137.2(FAH):c.554-1G>T http://identifiers.org/clinvar/11924 ^@ NM_000203.4(IDUA):c.1855C>G (p.Arg619Gly) http://identifiers.org/clinvar/11974 ^@ NM_000481.3(AMT):c.806G>A (p.Gly269Asp) http://identifiers.org/clinvar/12026 ^@ NM_004453.3(ETFDH):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/12076 ^@ NM_000131.4(F7):c.1061C>T (p.Ala354Val) http://identifiers.org/clinvar/12126 ^@ NM_000204.4(CFI):c.1555G>A (p.Asp519Asn) http://identifiers.org/clinvar/12179 ^@ CYP21A2, ARG408CYS http://identifiers.org/clinvar/12231 ^@ NM_004360.4(CDH1):c.2131C>G (p.Leu711Val) http://identifiers.org/clinvar/12282 ^@ NM_000463.2(UGT1A1):c.-1352A= http://identifiers.org/clinvar/12334 ^@ NM_199292.2(TH):c.1076G>T (p.Cys359Phe) http://identifiers.org/clinvar/12385 ^@ TNF, LEU29SER http://identifiers.org/clinvar/12436 ^@ NM_003282.3(TNNI2):c.466C>T (p.Arg156Ter) http://identifiers.org/clinvar/12487 ^@ NM_000359.2(TGM1):c.1187G>T (p.Arg396Leu) http://identifiers.org/clinvar/12537 ^@ NM_001128177.1(THRB):c.1358C>A (p.Pro453His) http://identifiers.org/clinvar/12587 ^@ NM_004985.4(KRAS):c.458A>T (p.Asp153Val) http://identifiers.org/clinvar/12638 ^@ NM_000458.3(HNF1B):c.301G>T (p.Glu101Ter) http://identifiers.org/clinvar/12689 ^@ TG, IVS3, C-G, -3 http://identifiers.org/clinvar/12740 ^@ CCL5, 168923, T/C http://identifiers.org/clinvar/12790 ^@ SDHB, IVS4DS, G-C, +1 http://identifiers.org/clinvar/12840 ^@ NM_001024858.2(SPTB):c.6191G>C (p.Arg2064Pro) http://identifiers.org/clinvar/12891 ^@ NM_006920.4(SCN1A):c.3776A>C (p.Lys1259Thr) http://identifiers.org/clinvar/12941 ^@ NM_003124.4(SPR):c.448A>G (p.Arg150Gly) http://identifiers.org/clinvar/12992 ^@ NM_000540.2(RYR1):c.13909A>G (p.Thr4637Ala) http://identifiers.org/clinvar/13043 ^@ NM_000539.3(RHO):c.620T>G (p.Met207Arg) http://identifiers.org/clinvar/36678 ^@ NM_000444.5(PHEX):c.349+1G>C http://identifiers.org/clinvar/36732 ^@ NM_001035.2(RYR2):c.13260+14A>G http://identifiers.org/clinvar/242683 ^@ NM_198253.2(TERT):c.2599G>A (p.Val867Met) http://identifiers.org/clinvar/38791 ^@ NP_003051.1:p.Gly218fs http://identifiers.org/clinvar/38915 ^@ NM_001099274.1(TINF2):c.706C>T (p.Pro236Ser) http://identifiers.org/clinvar/38965 ^@ NM_002473.5(MYH9):c.3494G>T (p.Arg1165Leu) http://identifiers.org/clinvar/39017 ^@ NM_024312.4(GNPTAB):c.1000C>T (p.Arg334Ter) http://identifiers.org/clinvar/39067 ^@ NM_024312.4(GNPTAB):c.3232delT (p.Tyr1078Thrfs) http://identifiers.org/clinvar/39124 ^@ NM_198253.2(TERT):c.430G>A (p.Val144Met) http://identifiers.org/clinvar/39174 ^@ NM_198578.3(LRRK2):c.3960G>T (p.Arg1320Ser) http://identifiers.org/clinvar/39224 ^@ NM_198578.3(LRRK2):c.6356C>T (p.Pro2119Leu) http://identifiers.org/clinvar/39275 ^@ NM_207352.3(CYP4V2):c.992A>C (p.His331Pro) http://identifiers.org/clinvar/39437 ^@ NM_017436.5(A4GALT):c.631C>G (p.Gln211Glu) http://identifiers.org/clinvar/39489 ^@ NM_004826.3(ECEL1):c.344_355delACCTGGACGCCA (p.Asn115_Ala118del) http://identifiers.org/clinvar/39539 ^@ NM_001139.2(ALOX12B):c.1294C>T (p.Arg432Ter) http://identifiers.org/clinvar/39589 ^@ NM_002609.3(PDGFRB):c.2959C>T (p.Arg987Trp) http://identifiers.org/clinvar/39641 ^@ NM_144577.3(CCDC114):c.939delT (p.His313Glnfs) http://identifiers.org/clinvar/39693 ^@ HS6ST1, MET394VAL http://identifiers.org/clinvar/39743 ^@ NM_005881.3(BCKDK):c.466C>T (p.Arg156Ter) http://identifiers.org/clinvar/39794 ^@ NM_012472.5(LRRC6):c.598_599delAA (p.Lys200Glufs) http://identifiers.org/clinvar/39845 ^@ NM_001410.2(MEGF8):c.4496G>A (p.Arg1499His) http://identifiers.org/clinvar/39995 ^@ NM_030653.3(DDX11):c.788G>A (p.Arg263Gln) http://identifiers.org/clinvar/40153 ^@ m.9191T>C http://identifiers.org/clinvar/40256 ^@ NM_002354.2(EPCAM):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/40386 ^@ NM_004333.4(BRAF):c.1775T>C (p.Ile592Thr) http://identifiers.org/clinvar/40450 ^@ NM_176795.4(HRAS):c.*251A>C http://identifiers.org/clinvar/40517 ^@ NM_002834.4(PTPN11):c.757-69T>C http://identifiers.org/clinvar/40576 ^@ NM_002880.3(RAF1):c.-204G>C http://identifiers.org/clinvar/40639 ^@ NM_007373.3(SHOC2):c.1337A>G (p.Asn446Ser) http://identifiers.org/clinvar/51129 ^@ NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) http://identifiers.org/clinvar/51180 ^@ NM_000059.3(BRCA2):c.172G>T (p.Glu58Ter) http://identifiers.org/clinvar/51232 ^@ NM_000059.3(BRCA2):c.1959A>G (p.Glu653=) http://identifiers.org/clinvar/51283 ^@ NM_000059.3(BRCA2):c.2435delA (p.Asn812Ilefs) http://identifiers.org/clinvar/51334 ^@ NM_000059.3(BRCA2):c.273C>A (p.Tyr91Ter) http://identifiers.org/clinvar/51434 ^@ NM_000059.3(BRCA2):c.3262_3263delCC (p.Pro1088Serfs) http://identifiers.org/clinvar/52148 ^@ NM_000059.3(BRCA2):c.6652dupG (p.Asp2218Glyfs) http://identifiers.org/clinvar/52198 ^@ NM_000059.3(BRCA2):c.682-1G>C http://identifiers.org/clinvar/52249 ^@ NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) http://identifiers.org/clinvar/52300 ^@ NM_000059.3(BRCA2):c.7254_7255delAG (p.Arg2418Serfs) http://identifiers.org/clinvar/52350 ^@ NM_000059.3(BRCA2):c.7538delC (p.Ala2513Glufs) http://identifiers.org/clinvar/52401 ^@ NM_000059.3(BRCA2):c.7757G>A (p.Trp2586Ter) http://identifiers.org/clinvar/52451 ^@ NM_000059.3(BRCA2):c.7976+12G>A http://identifiers.org/clinvar/52501 ^@ NM_000059.3(BRCA2):c.8087T>A (p.Leu2696Ter) http://identifiers.org/clinvar/52552 ^@ NM_000059.3(BRCA2):c.8331G>A (p.Lys2777=) http://identifiers.org/clinvar/52602 ^@ NM_000059.3(BRCA2):c.8487+1G>A http://identifiers.org/clinvar/52654 ^@ NM_000059.3(BRCA2):c.8665G>T (p.Ala2889Ser) http://identifiers.org/clinvar/52704 ^@ NM_000059.3(BRCA2):c.8933C>A (p.Ser2978Ter) http://identifiers.org/clinvar/52755 ^@ NM_000059.3(BRCA2):c.9117+1G>T http://identifiers.org/clinvar/52806 ^@ NM_000059.3(BRCA2):c.9286G>T (p.Glu3096Ter) http://identifiers.org/clinvar/52857 ^@ NM_000059.3(BRCA2):c.9502-28A>G http://identifiers.org/clinvar/52907 ^@ NM_000059.3(BRCA2):c.9843A>C (p.Pro3281=) http://identifiers.org/clinvar/52957 ^@ NM_000218.2(KCNQ1):c.1097G>C (p.Arg366Pro) http://identifiers.org/clinvar/53007 ^@ NM_000218.2(KCNQ1):c.1700T>C (p.Ile567Thr) http://identifiers.org/clinvar/53057 ^@ NM_000218.2(KCNQ1):c.518T>A (p.Val173Asp) http://identifiers.org/clinvar/53107 ^@ NM_000218.2(KCNQ1):c.796delC (p.Leu266Cysfs) http://identifiers.org/clinvar/53159 ^@ NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) http://identifiers.org/clinvar/53211 ^@ NM_000492.3(CFTR):c.11C>A (p.Ser4Ter) http://identifiers.org/clinvar/53263 ^@ NM_000492.3(CFTR):c.1478A>G (p.Gln493Arg) http://identifiers.org/clinvar/53314 ^@ NM_000492.3(CFTR):c.165-1G>A http://identifiers.org/clinvar/53364 ^@ NM_000492.3(CFTR):c.1736A>C (p.Asp579Ala) http://identifiers.org/clinvar/53414 ^@ NM_000492.3(CFTR):c.1915G>T (p.Asp639Tyr) http://identifiers.org/clinvar/53466 ^@ NM_000492.3(CFTR):c.2276_2277delCC (p.Pro759Hisfs) http://identifiers.org/clinvar/54921 ^@ NM_007294.3(BRCA1):c.3580delA (p.Thr1194Profs) http://identifiers.org/clinvar/54973 ^@ NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) http://identifiers.org/clinvar/55024 ^@ NM_007294.3(BRCA1):c.3841_3843delCAG (p.Gln1281del) http://identifiers.org/clinvar/55074 ^@ NM_007294.3(BRCA1):c.4002_4005delTCTG (p.Leu1335Valfs) http://identifiers.org/clinvar/55125 ^@ NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) http://identifiers.org/clinvar/55176 ^@ NM_007294.3(BRCA1):c.4347A>G (p.Thr1449=) http://identifiers.org/clinvar/55227 ^@ NM_007294.3(BRCA1):c.455T>C (p.Leu152Pro) http://identifiers.org/clinvar/55277 ^@ NM_007294.3(BRCA1):c.4743A>C (p.Glu1581Asp) http://identifiers.org/clinvar/55328 ^@ NM_007294.3(BRCA1):c.4945delA (p.Arg1649Glufs) http://identifiers.org/clinvar/55378 ^@ NM_007294.3(BRCA1):c.5075-1G>T http://identifiers.org/clinvar/55428 ^@ NM_007294.3(BRCA1):c.5152+66G>A http://identifiers.org/clinvar/55478 ^@ NM_007294.3(BRCA1):c.5245C>G (p.Pro1749Ala) http://identifiers.org/clinvar/55531 ^@ NM_007294.3(BRCA1):c.5332G>C (p.Asp1778His) http://identifiers.org/clinvar/55581 ^@ NM_007294.3(BRCA1):c.5445G>A (p.Trp1815Ter) http://identifiers.org/clinvar/55631 ^@ NM_007294.3(BRCA1):c.5561T>C (p.Leu1854Pro) http://identifiers.org/clinvar/101174 ^@ NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) http://identifiers.org/clinvar/101224 ^@ NM_000090.3(COL3A1):c.582+2dupT (p.Gly177_Pro194del) http://identifiers.org/clinvar/101274 ^@ NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val) http://identifiers.org/clinvar/101324 ^@ NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) http://identifiers.org/clinvar/101374 ^@ NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp) http://identifiers.org/clinvar/101424 ^@ NM_000090.3(COL3A1):c.1870-2A>G (p.Gly624_Gln641del) http://identifiers.org/clinvar/101474 ^@ NM_000090.3(COL3A1):c.413delC (p.Pro138Leufs) http://identifiers.org/clinvar/102428 ^@ NM_004188.6(GFI1B):c.859C>T (p.Gln287Ter) http://identifiers.org/clinvar/102487 ^@ NM_000277.1(PAH):c.1038delG (p.Leu347Serfs) http://identifiers.org/clinvar/103202 ^@ NM_032206.4(NLRC5):c.4920-60G>A http://identifiers.org/clinvar/103252 ^@ NM_138329.2(NLRP6):c.311-26G>T http://identifiers.org/clinvar/103302 ^@ NM_153447.4(NLRP5):c.679+340T>C http://identifiers.org/clinvar/103352 ^@ NM_176822.3(NLRP14):c.3147-109T>C http://identifiers.org/clinvar/111226 ^@ NM_000619.2(IFNG):c.366+360G>C http://identifiers.org/clinvar/111276 ^@ NM_005105.4(RBM8A):c.67+93A>T http://identifiers.org/clinvar/120238 ^@ NM_017637.5(BNC2):c.2768C>T (p.Ala923Val) http://identifiers.org/clinvar/120288 ^@ NM_000277.1(PAH):c.837delC (p.Glu280Asnfs) http://identifiers.org/clinvar/125512 ^@ NM_007294.3(BRCA1):c.70_71insTGTC (p.Cys24Leufs) http://identifiers.org/clinvar/125593 ^@ NM_007294.3(BRCA1):c.2868delT (p.Gln957Serfs) http://identifiers.org/clinvar/125668 ^@ NM_007294.3(BRCA1):c.302-2A>T http://identifiers.org/clinvar/125729 ^@ NM_007294.3(BRCA1):c.4730C>A (p.Ser1577Tyr) http://identifiers.org/clinvar/125804 ^@ NM_007294.3(BRCA1):c.5194-1G>A http://identifiers.org/clinvar/125867 ^@ NM_007294.3(BRCA1):c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs) http://identifiers.org/clinvar/125931 ^@ NM_000059.3(BRCA2):c.995_996insG (p.Ile332Metfs) http://identifiers.org/clinvar/125995 ^@ NM_000059.3(BRCA2):c.2833_2834insTT (p.Lys945Ilefs) http://identifiers.org/clinvar/126062 ^@ NM_000059.3(BRCA2):c.5153A>G (p.Asn1718Ser) http://identifiers.org/clinvar/126133 ^@ NM_000059.3(BRCA2):c.7242A>G (p.Ser2414=) http://identifiers.org/clinvar/126191 ^@ NM_000059.3(BRCA2):c.8800_8801ins346 (p.?) http://identifiers.org/clinvar/126251 ^@ NM_025114.3(CEP290):c.251-10A>T http://identifiers.org/clinvar/126301 ^@ NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) http://identifiers.org/clinvar/126352 ^@ NM_003070.4(SMARCA2):c.690_707dup18 (p.Gln238_Pro239insGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/126408 ^@ NM_015474.3(SAMHD1):c.1503+1G>T http://identifiers.org/clinvar/126476 ^@ NM_021625.4(TRPV4):c.2198G>A (p.Trp733Ter) http://identifiers.org/clinvar/126561 ^@ NM_199189.2(MATR3):c.344T>G (p.Phe115Cys) http://identifiers.org/clinvar/126613 ^@ NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) http://identifiers.org/clinvar/127026 ^@ NM_005591.3(MRE11):c.1995-94G>A http://identifiers.org/clinvar/127078 ^@ NM_004598.3(SPOCK1):c.239A>T (p.Asp80Val) http://identifiers.org/clinvar/160354 ^@ NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) http://identifiers.org/clinvar/160810 ^@ GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 http://identifiers.org/clinvar/160861 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x3 http://identifiers.org/clinvar/160913 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 http://identifiers.org/clinvar/160965 ^@ GRCh38/hg38 9p24.3(chr9:204193-295405)x3 http://identifiers.org/clinvar/161016 ^@ GRCh38/hg38 1q21.2(chr1:147756734-147776466)x3 http://identifiers.org/clinvar/161116 ^@ NM_016026.3(RDH11):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/161195 ^@ NM_001114748.1(TMEM240):c.239C>T (p.Thr80Met) http://identifiers.org/clinvar/161348 ^@ NM_000313.3(PROS1):c.1907A>G (p.Tyr636Cys) http://identifiers.org/clinvar/161248 ^@ NM_000161.2(GCH1):c.610G>A (p.Val204Ile) http://identifiers.org/clinvar/161298 ^@ NM_001040108.1(MLH3):c.2941G>A (p.Gly981Ser) http://identifiers.org/clinvar/161399 ^@ NM_000548.4(TSC2):c.223G>A (p.Glu75Lys) http://identifiers.org/clinvar/161517 ^@ NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) http://identifiers.org/clinvar/161467 ^@ NM_000435.2(NOTCH3):c.146G>T (p.Cys49Phe) http://identifiers.org/clinvar/179785 ^@ NM_001035.2(RYR2):c.4209A>G (p.Ala1403=) http://identifiers.org/clinvar/178127 ^@ NM_001035.2(RYR2):c.14484G>T (p.Gly4828=) http://identifiers.org/clinvar/179885 ^@ NM_133378.4(TTN):c.53271C>T (p.Ile17757=) http://identifiers.org/clinvar/178577 ^@ NM_206933.2(USH2A):c.10510C>G (p.Pro3504Ala) http://identifiers.org/clinvar/178996 ^@ NM_133378.4(TTN):c.68323A>G (p.Lys22775Glu) http://identifiers.org/clinvar/179046 ^@ NM_133378.4(TTN):c.50715A>G (p.Gln16905=) http://identifiers.org/clinvar/178177 ^@ NM_133378.4(TTN):c.80174G>A (p.Arg26725His) http://identifiers.org/clinvar/178227 ^@ NM_001256850.1(TTN):c.31642G>C (p.Val10548Leu) http://identifiers.org/clinvar/179985 ^@ NM_133378.4(TTN):c.31411G>A (p.Glu10471Lys) http://identifiers.org/clinvar/178896 ^@ NM_133379.4(TTN):c.12484C>T (p.Gln4162Ter) http://identifiers.org/clinvar/178627 ^@ NM_194248.2(OTOF):c.5039G>A (p.Arg1680His) http://identifiers.org/clinvar/178745 ^@ NM_001369.2(DNAH5):c.8586G>T (p.Leu2862Phe) http://identifiers.org/clinvar/178277 ^@ NM_001256850.1(TTN):c.687T>C (p.Phe229=) http://identifiers.org/clinvar/178027 ^@ NM_004415.3(DSP):c.1920C>T (p.Ile640=) http://identifiers.org/clinvar/180085 ^@ NM_004403.2(DFNA5):c.1218T>C (p.Thr406=) http://identifiers.org/clinvar/180035 ^@ NM_032119.3(ADGRV1):c.15667G>A (p.Gly5223Arg) http://identifiers.org/clinvar/199102 ^@ NM_004994.2(MMP9):c.1465C>G (p.Pro489Ala) http://identifiers.org/clinvar/199154 ^@ NM_018328.4(MBD5):c.664C>T (p.Pro222Ser) http://identifiers.org/clinvar/199205 ^@ NM_032119.3(ADGRV1):c.18804T>G (p.Gly6268=) http://identifiers.org/clinvar/199261 ^@ DOCK2, ARG751SER http://identifiers.org/clinvar/217365 ^@ NM_130838.1(UBE3A):c.2503_2508delCTTAAA (p.Leu835_Lys836del) http://identifiers.org/clinvar/200955 ^@ NM_170707.3(LMNA):c.339dupT (p.Lys114Terfs) http://identifiers.org/clinvar/201203 ^@ NM_001035.2(RYR2):c.818C>T (p.Ser273Phe) http://identifiers.org/clinvar/201259 ^@ NM_001035.2(RYR2):c.5762G>A (p.Arg1921Gln) http://identifiers.org/clinvar/201313 ^@ NM_001035.2(RYR2):c.11588G>A (p.Gly3863Asp) http://identifiers.org/clinvar/199709 ^@ NM_000090.3(COL3A1):c.266C>G (p.Pro89Arg) http://identifiers.org/clinvar/199931 ^@ NM_004415.3(DSP):c.197A>T (p.Gln66Leu) http://identifiers.org/clinvar/199874 ^@ NM_004415.3(DSP):c.2765C>T (p.Thr922Ile) http://identifiers.org/clinvar/200518 ^@ NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter) http://identifiers.org/clinvar/200648 ^@ NM_000238.3(KCNH2):c.2115delG (p.Trp705Cysfs) http://identifiers.org/clinvar/200757 ^@ NM_000238.3(KCNH2):c.1946-2A>C http://identifiers.org/clinvar/200342 ^@ NM_000238.3(KCNH2):c.1459G>A (p.Gly487Ser) http://identifiers.org/clinvar/200222 ^@ NM_000238.3(KCNH2):c.1353G>A (p.Pro451=) http://identifiers.org/clinvar/200895 ^@ NM_000218.2(KCNQ1):c.605A>G (p.Asp202Gly) http://identifiers.org/clinvar/200840 ^@ NM_000218.2(KCNQ1):c.1105C>G (p.Pro369Ala) http://identifiers.org/clinvar/200098 ^@ NM_000138.4(FBN1):c.6923T>C (p.Leu2308Pro) http://identifiers.org/clinvar/200046 ^@ NM_000138.4(FBN1):c.4460-9C>A http://identifiers.org/clinvar/200158 ^@ NM_000138.4(FBN1):c.3424_3427dupCCTG (p.Gly1143Alafs) http://identifiers.org/clinvar/199989 ^@ NM_000138.4(FBN1):c.2147G>A (p.Gly716Glu) http://identifiers.org/clinvar/201084 ^@ NM_002474.2(MYH11):c.5375G>A (p.Arg1792Gln) http://identifiers.org/clinvar/201030 ^@ NM_002474.2(MYH11):c.3651+6_3651+11delGCTTTT http://identifiers.org/clinvar/199764 ^@ NM_024422.4(DSC2):c.901A>G (p.Thr301Ala) http://identifiers.org/clinvar/199820 ^@ NM_001943.4(DSG2):c.2906C>T (p.Ala969Val) http://identifiers.org/clinvar/201143 ^@ NM_000540.2(RYR1):c.14304-6C>A http://identifiers.org/clinvar/202088 ^@ NM_000337.5(SGCD):c.191T>C (p.Ile64Thr) http://identifiers.org/clinvar/202145 ^@ NM_014000.2(VCL):c.81C>T (p.His27=) http://identifiers.org/clinvar/242581 ^@ NM_017882.2(CLN6):c.829_837delGTCGCCTGG (p.Val277_Trp279del) http://identifiers.org/clinvar/203093 ^@ NM_001256850.1(TTN):c.100381G>A (p.Ala33461Thr) http://identifiers.org/clinvar/202428 ^@ NM_001256850.1(TTN):c.94066+1G>A http://identifiers.org/clinvar/203043 ^@ NM_001256850.1(TTN):c.94036T>C (p.Ser31346Pro) http://identifiers.org/clinvar/202993 ^@ NM_001256850.1(TTN):c.88343G>A (p.Arg29448His) http://identifiers.org/clinvar/202484 ^@ NM_001256850.1(TTN):c.82432delG (p.Ala27478Leufs) http://identifiers.org/clinvar/202893 ^@ NM_001256850.1(TTN):c.74777A>G (p.Asn24926Ser) http://identifiers.org/clinvar/202843 ^@ NM_001256850.1(TTN):c.67793T>C (p.Met22598Thr) http://identifiers.org/clinvar/202322 ^@ NM_001256850.1(TTN):c.63805G>A (p.Gly21269Arg) http://identifiers.org/clinvar/202793 ^@ NM_001256850.1(TTN):c.60221G>T (p.Arg20074Leu) http://identifiers.org/clinvar/231321 ^@ NM_000038.5(APC):c.6279C>T (p.Ser2093=) http://identifiers.org/clinvar/229832 ^@ NM_000038.5(APC):c.7095A>G (p.Ser2365=) http://identifiers.org/clinvar/233511 ^@ NM_000038.5(APC):c.7889T>C (p.Val2630Ala) http://identifiers.org/clinvar/231421 ^@ NM_005732.3(RAD50):c.1706A>C (p.Tyr569Ser) http://identifiers.org/clinvar/233864 ^@ NM_005732.3(RAD50):c.2977C>G (p.His993Asp) http://identifiers.org/clinvar/231721 ^@ NM_002485.4(NBN):c.2211G>T (p.Glu737Asp) http://identifiers.org/clinvar/229732 ^@ NM_000368.4(TSC1):c.1878G>A (p.Glu626=) http://identifiers.org/clinvar/231771 ^@ NM_000314.6(PTEN):c.144C>G (p.Asn48Lys) http://identifiers.org/clinvar/231171 ^@ NM_000051.3(ATM):c.381A>G (p.Thr127=) http://identifiers.org/clinvar/231021 ^@ NM_000051.3(ATM):c.5531A>G (p.Tyr1844Cys) http://identifiers.org/clinvar/231221 ^@ NM_000051.3(ATM):c.8967A>G (p.Gln2989=) http://identifiers.org/clinvar/234164 ^@ NM_017841.2(SDHAF2):c.359A>G (p.Tyr120Cys) http://identifiers.org/clinvar/233763 ^@ NM_000059.3(BRCA2):c.238A>G (p.Ile80Val) http://identifiers.org/clinvar/234014 ^@ NM_000059.3(BRCA2):c.1067C>T (p.Ser356Phe) http://identifiers.org/clinvar/233461 ^@ NM_000059.3(BRCA2):c.2181A>G (p.Ser727=) http://identifiers.org/clinvar/234114 ^@ NM_000059.3(BRCA2):c.2725C>A (p.Leu909Ile) http://identifiers.org/clinvar/232421 ^@ NM_000059.3(BRCA2):c.3000T>G (p.Ile1000Met) http://identifiers.org/clinvar/231821 ^@ NM_000059.3(BRCA2):c.4464C>G (p.His1488Gln) http://identifiers.org/clinvar/230771 ^@ NM_000059.3(BRCA2):c.6092C>G (p.Thr2031Ser) http://identifiers.org/clinvar/230921 ^@ NM_000059.3(BRCA2):c.6715G>A (p.Glu2239Lys) http://identifiers.org/clinvar/230821 ^@ NM_000059.3(BRCA2):c.8165C>A (p.Thr2722Lys) http://identifiers.org/clinvar/231521 ^@ NM_000059.3(BRCA2):c.10176A>G (p.Lys3392=) http://identifiers.org/clinvar/230871 ^@ NM_024675.3(PALB2):c.2904T>C (p.Ala968=) http://identifiers.org/clinvar/229932 ^@ NM_024675.3(PALB2):c.2586G>C (p.Lys862Asn) http://identifiers.org/clinvar/231071 ^@ NM_024675.3(PALB2):c.2257C>A (p.Arg753=) http://identifiers.org/clinvar/233411 ^@ NM_024675.3(PALB2):c.1925T>C (p.Met642Thr) http://identifiers.org/clinvar/231271 ^@ NM_024675.3(PALB2):c.35delA (p.Glu12Glyfs) http://identifiers.org/clinvar/234064 ^@ NM_004360.4(CDH1):c.480C>T (p.Pro160=) http://identifiers.org/clinvar/231871 ^@ NM_001042492.2(NF1):c.2957C>T (p.Ala986Val) http://identifiers.org/clinvar/233964 ^@ NM_001042492.2(NF1):c.4637T>C (p.Leu1546Pro) http://identifiers.org/clinvar/231121 ^@ NM_001042492.2(NF1):c.5025C>T (p.Ser1675=) http://identifiers.org/clinvar/231471 ^@ NM_001042492.2(NF1):c.5093C>G (p.Thr1698Ser) http://identifiers.org/clinvar/229682 ^@ NM_001042492.2(NF1):c.8440C>T (p.Arg2814Cys) http://identifiers.org/clinvar/231621 ^@ NM_002878.3(RAD51D):c.944G>T (p.Gly315Val) http://identifiers.org/clinvar/233914 ^@ NM_002878.3(RAD51D):c.823C>A (p.Arg275=) http://identifiers.org/clinvar/231921 ^@ NM_058216.2(RAD51C):c.923C>T (p.Ala308Val) http://identifiers.org/clinvar/231371 ^@ NM_032043.2(BRIP1):c.3097C>A (p.Pro1033Thr) http://identifiers.org/clinvar/233813 ^@ NM_032043.2(BRIP1):c.1375A>G (p.Arg459Gly) http://identifiers.org/clinvar/229882 ^@ NM_032043.2(BRIP1):c.888G>C (p.Glu296Asp) http://identifiers.org/clinvar/234214 ^@ NM_000546.5(TP53):c.668C>T (p.Pro223Leu) http://identifiers.org/clinvar/230721 ^@ NM_005359.5(SMAD4):c.565C>G (p.Arg189Gly) http://identifiers.org/clinvar/231571 ^@ NM_007194.3(CHEK2):c.507T>G (p.Phe169Leu) http://identifiers.org/clinvar/235691 ^@ NM_001163809.1(WDR81):c.3532G>A (p.Ala1178Thr) http://identifiers.org/clinvar/235753 ^@ NM_000016.5(ACADM):c.849+1G>A http://identifiers.org/clinvar/235826 ^@ NM_001567.3(INPPL1):c.2071C>T (p.Arg691Trp) http://identifiers.org/clinvar/235898 ^@ NM_024870.3(PREX2):c.428G>A (p.Arg143Gln) http://identifiers.org/clinvar/236349 ^@ NC_000003.10:g.2004929_2934627dup929699 http://identifiers.org/clinvar/236399 ^@ NM_000157.3(GBA):c.415G>C (p.Ala139Pro) http://identifiers.org/clinvar/236450 ^@ NM_000440.2(PDE6A):c.367G>T (p.Asp123Tyr) http://identifiers.org/clinvar/236500 ^@ NM_006445.3(PRPF8):c.4131C>T (p.Ser1377=) http://identifiers.org/clinvar/236550 ^@ NM_000435.2(NOTCH3):c.6498_6577del80 (p.Ala2167Profs) http://identifiers.org/clinvar/240761 ^@ NM_007272.2(CTRC):c.-59C>T http://identifiers.org/clinvar/240711 ^@ NM_006922.3(SCN3A):c.4807+7A>G http://identifiers.org/clinvar/239810 ^@ NM_004304.4(ALK):c.2633-6C>T http://identifiers.org/clinvar/241750 ^@ NM_053025.3(MYLK):c.1271A>T (p.Glu424Val) http://identifiers.org/clinvar/242200 ^@ NM_198056.2(SCN5A):c.4980C>T (p.Ile1660=) http://identifiers.org/clinvar/240661 ^@ NM_006514.3(SCN10A):c.1157T>G (p.Phe386Cys) http://identifiers.org/clinvar/240060 ^@ NM_004656.3(BAP1):c.501G>A (p.Ala167=) http://identifiers.org/clinvar/240311 ^@ NM_006206.4(PDGFRA):c.162A>G (p.Glu54=) http://identifiers.org/clinvar/240361 ^@ NM_006206.4(PDGFRA):c.759+7A>G http://identifiers.org/clinvar/236600 ^@ NM_000038.5(APC):c.4505G>T (p.Cys1502Phe) http://identifiers.org/clinvar/236650 ^@ NM_000038.5(APC):c.7822G>A (p.Ala2608Thr) http://identifiers.org/clinvar/240211 ^@ NM_005732.3(RAD50):c.1552C>T (p.Leu518=) http://identifiers.org/clinvar/240161 ^@ NM_005431.1(XRCC2):c.39+8C>G http://identifiers.org/clinvar/261799 ^@ NM_025074.6(FRAS1):c.10877T>C (p.Val3626Ala) http://identifiers.org/clinvar/257970 ^@ NM_001369.2(DNAH5):c.10035T>C (p.Cys3345=) http://identifiers.org/clinvar/258070 ^@ NM_001369.2(DNAH5):c.9681A>G (p.Lys3227=) http://identifiers.org/clinvar/258020 ^@ NM_001369.2(DNAH5):c.3598+20T>C http://identifiers.org/clinvar/263049 ^@ NM_182925.4(FLT4):c.3220-29A>G http://identifiers.org/clinvar/260860 ^@ NM_017651.4(AHI1):c.399G>T (p.Val133=) http://identifiers.org/clinvar/262399 ^@ NM_138694.3(PKHD1):c.3629-32A>G http://identifiers.org/clinvar/257920 ^@ NM_001277115.1(DNAH11):c.6469-17A>G http://identifiers.org/clinvar/257870 ^@ NM_001277115.1(DNAH11):c.13257A>G (p.Gly4419=) http://identifiers.org/clinvar/260760 ^@ NM_016616.4(NME8):c.33+15T>G http://identifiers.org/clinvar/255171 ^@ NM_000127.2(EXT1):c.1284+25G>A http://identifiers.org/clinvar/260910 ^@ NM_017780.3(CHD7):c.5757C>G (p.Ala1919=) http://identifiers.org/clinvar/262749 ^@ NM_153704.5(TMEM67):c.2952A>G (p.Ala984=) http://identifiers.org/clinvar/260410 ^@ NM_014425.4(INVS):c.2568G>A (p.Arg856=) http://identifiers.org/clinvar/259810 ^@ NM_005592.3(MUSK):c.358+20G>A http://identifiers.org/clinvar/260510 ^@ NM_015046.5(SETX):c.6106+14G>A http://identifiers.org/clinvar/262449 ^@ NM_139025.4(ADAMTS13):c.4077+32T>C http://identifiers.org/clinvar/255071 ^@ NM_000093.4(COL5A1):c.2845-17C>A http://identifiers.org/clinvar/262099 ^@ NM_032634.3(PIGO):c.461C>A (p.Ala154Asp) http://identifiers.org/clinvar/258170 ^@ NM_001698.2(AUH):c.331-6G>A http://identifiers.org/clinvar/262849 ^@ NM_173551.4(ANKS6):c.2271C>T (p.Ser757=) http://identifiers.org/clinvar/260160 ^@ NM_007373.3(SHOC2):c.1162-16T>G http://identifiers.org/clinvar/260810 ^@ NM_017433.4(MYO3A):c.1104_1105delCGinsTA (p.Val369Ile) http://identifiers.org/clinvar/260460 ^@ NM_014915.2(ANKRD26):c.1596_1598delAGA (p.Glu533del) http://identifiers.org/clinvar/262149 ^@ NM_033056.3(PCDH15):c.3010-48G>A http://identifiers.org/clinvar/260260 ^@ NM_012463.3(ATP6V0A2):c.732-23T>C http://identifiers.org/clinvar/258220 ^@ NM_001844.4(COL2A1):c.1913C>T (p.Thr638Ile) http://identifiers.org/clinvar/261849 ^@ NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) http://identifiers.org/clinvar/255221 ^@ NM_000131.4(F7):c.806-20G>A http://identifiers.org/clinvar/261010 ^@ NM_018139.2(DNAAF2):c.1299C>T (p.Pro433=) http://identifiers.org/clinvar/254871 ^@ NM_000070.2(CAPN3):c.379+11G>A http://identifiers.org/clinvar/332855 ^@ NM_133378.4(TTN):c.39698C>T (p.Thr13233Ile) http://identifiers.org/clinvar/332905 ^@ NM_133378.4(TTN):c.24124G>T (p.Val8042Phe) http://identifiers.org/clinvar/332955 ^@ NM_133378.4(TTN):c.5001T>C (p.Tyr1667=) http://identifiers.org/clinvar/335746 ^@ NM_000379.3(XDH):c.*878T>C http://identifiers.org/clinvar/333005 ^@ NM_201548.4(CERKL):c.1500T>C (p.Asp500=) http://identifiers.org/clinvar/333155 ^@ NM_014585.5(SLC40A1):c.*735dupA http://identifiers.org/clinvar/335996 ^@ NM_005633.3(SOS1):c.*1333_*1336dupAAGT http://identifiers.org/clinvar/336046 ^@ NM_022436.2(ABCG5):c.900C>G (p.Phe300Leu) http://identifiers.org/clinvar/336146 ^@ NM_133259.3(LRPPRC):c.3900+15C>T http://identifiers.org/clinvar/333055 ^@ NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) http://identifiers.org/clinvar/336246 ^@ NM_001430.4(EPAS1):c.218-9C>T http://identifiers.org/clinvar/336296 ^@ NM_001430.4(EPAS1):c.*680dupT http://identifiers.org/clinvar/333205 ^@ NM_000534.4(PMS1):c.401C>T (p.Pro134Leu) http://identifiers.org/clinvar/333605 ^@ NM_020919.3(ALS2):c.-95G>C http://identifiers.org/clinvar/333655 ^@ NM_001204.6(BMPR2):c.*106C>T http://identifiers.org/clinvar/333355 ^@ NM_001006657.1(WDR35):c.*1006G>A http://identifiers.org/clinvar/335796 ^@ NM_000379.3(XDH):c.617C>T (p.Pro206Leu) http://identifiers.org/clinvar/335896 ^@ NM_001011.3(RPS7):c.-44C>T http://identifiers.org/clinvar/336803 ^@ NM_002056.3(GFPT1):c.*4520G>C http://identifiers.org/clinvar/337003 ^@ NM_015120.4(ALMS1):c.-39delC http://identifiers.org/clinvar/337053 ^@ NM_080916.2(DGUOK):c.*206_*210dupAGTTA http://identifiers.org/clinvar/337103 ^@ NM_006302.2(MOGS):c.*165G>A http://identifiers.org/clinvar/333805 ^@ NM_014929.3(FASTKD2):c.1428-13C>G http://identifiers.org/clinvar/333855 ^@ NM_014929.3(FASTKD2):c.*3472C>T http://identifiers.org/clinvar/333905 ^@ NM_015040.3(PIKFYVE):c.2795T>C (p.Leu932Ser) http://identifiers.org/clinvar/336403 ^@ NM_002354.2(EPCAM):c.-189C>G http://identifiers.org/clinvar/336453 ^@ NM_000233.3(LHCGR):c.*273T>C http://identifiers.org/clinvar/336503 ^@ NM_001135659.2(NRXN1):c.*2535C>T http://identifiers.org/clinvar/336603 ^@ NM_001135659.2(NRXN1):c.-1455C>T http://identifiers.org/clinvar/336653 ^@ NM_001114636.1(FANCL):c.984G>A (p.Val328=) http://identifiers.org/clinvar/336753 ^@ NM_015910.5(WDPCP):c.*323A>G http://identifiers.org/clinvar/336903 ^@ NM_001002755.2(NFU1):c.-200G>A http://identifiers.org/clinvar/342543 ^@ NM_198196.2(CD96):c.1410G>C (p.Pro470=) http://identifiers.org/clinvar/334896 ^@ NM_004509.3(SP110):c.1815+14A>G http://identifiers.org/clinvar/342893 ^@ NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) http://identifiers.org/clinvar/342343 ^@ NM_016247.3(IMPG2):c.2800T>C (p.Leu934=) http://identifiers.org/clinvar/335696 ^@ NM_004304.4(ALK):c.3173-11C>T http://identifiers.org/clinvar/335346 ^@ NM_152783.4(D2HGDH):c.*680G>C http://identifiers.org/clinvar/335396 ^@ NM_000183.2(HADHB):c.-185G>C http://identifiers.org/clinvar/335446 ^@ NM_194248.2(OTOF):c.2402A>T (p.Glu801Val) http://identifiers.org/clinvar/335496 ^@ NM_000221.2(KHK):c.683_685delAGG (p.Glu228del) http://identifiers.org/clinvar/335546 ^@ NM_015636.3(EIF2B4):c.95C>A (p.Thr32Asn) http://identifiers.org/clinvar/343982 ^@ NM_020800.2(IFT80):c.282G>A (p.Lys94=) http://identifiers.org/clinvar/335596 ^@ NM_001029883.2(C2orf71):c.*1798C>T http://identifiers.org/clinvar/335646 ^@ NM_001029883.2(C2orf71):c.2803G>A (p.Glu935Lys) http://identifiers.org/clinvar/336096 ^@ NM_022437.2(ABCG8):c.*523_*531delCGTGAACAA http://identifiers.org/clinvar/344082 ^@ NM_000055.3(BCHE):c.*189G>A http://identifiers.org/clinvar/344132 ^@ NM_005025.4(SERPINI1):c.959C>G (p.Ala320Gly) http://identifiers.org/clinvar/354548 ^@ NM_002397.4(MEF2C):c.*3842T>G http://identifiers.org/clinvar/357488 ^@ NM_018100.3(EFHC1):c.*99T>A http://identifiers.org/clinvar/354698 ^@ NM_001491.2(GCNT2):c.-231G>T http://identifiers.org/clinvar/354748 ^@ NM_020381.3(PDSS2):c.*1653T>C http://identifiers.org/clinvar/357788 ^@ NM_018368.3(LMBRD1):c.-250G>C http://identifiers.org/clinvar/354898 ^@ NM_007214.4(SEC63):c.1936-10_1936-9dupTT http://identifiers.org/clinvar/354948 ^@ NM_014028.3(OSTM1):c.*2277G>A http://identifiers.org/clinvar/354998 ^@ NM_004752.3(GCM2):c.*634C>T http://identifiers.org/clinvar/351201 ^@ NM_001369.2(DNAH5):c.2431+5G>A http://identifiers.org/clinvar/351151 ^@ NM_199189.2(MATR3):c.*305A>C http://identifiers.org/clinvar/351251 ^@ NM_002109.5(HARS):c.-185G>T http://identifiers.org/clinvar/355199 ^@ NM_006073.3(TRDN):c.*1405T>A http://identifiers.org/clinvar/355349 ^@ NM_006208.2(ENPP1):c.2106T>C (p.Ser702=) http://identifiers.org/clinvar/351101 ^@ NM_022464.4(SIL1):c.164A>G (p.Glu55Gly) http://identifiers.org/clinvar/351451 ^@ NM_054027.4(ANKH):c.*2243C>T http://identifiers.org/clinvar/355549 ^@ NM_000416.2(IFNGR1):c.*206A>G http://identifiers.org/clinvar/351501 ^@ NM_054027.4(ANKH):c.1278G>A (p.Ala426=) http://identifiers.org/clinvar/355599 ^@ NM_003764.3(STX11):c.63C>T (p.Asp21=) http://identifiers.org/clinvar/351351 ^@ NM_001018077.1(NR3C1):c.*768_*769dupAA http://identifiers.org/clinvar/351551 ^@ NM_006846.3(SPINK5):c.*330T>C http://identifiers.org/clinvar/355699 ^@ NM_203395.2(IYD):c.*672C>T http://identifiers.org/clinvar/351401 ^@ NM_054027.4(ANKH):c.*5725G>T http://identifiers.org/clinvar/355749 ^@ NM_203395.2(IYD):c.*3004C>T http://identifiers.org/clinvar/351701 ^@ NM_024577.3(SH3TC2):c.*10968G>A http://identifiers.org/clinvar/351601 ^@ NM_024577.3(SH3TC2):c.*19342A>G http://identifiers.org/clinvar/351801 ^@ NM_024577.3(SH3TC2):c.*5799C>T http://identifiers.org/clinvar/351651 ^@ NM_024577.3(SH3TC2):c.*15311delA http://identifiers.org/clinvar/351751 ^@ NM_024577.3(SH3TC2):c.*8438_*8439dupCT http://identifiers.org/clinvar/359427 ^@ NM_022458.3(LMBR1):c.682A>G (p.Thr228Ala) http://identifiers.org/clinvar/351951 ^@ NM_000440.2(PDE6A):c.*2079delG http://identifiers.org/clinvar/359577 ^@ NM_001101426.3(ISPD):c.*303G>A http://identifiers.org/clinvar/359727 ^@ NM_032581.3(FAM126A):c.*2905T>C http://identifiers.org/clinvar/359977 ^@ NM_006735.3(HOXA2):c.*108C>T http://identifiers.org/clinvar/356688 ^@ NM_000409.4(GUCA1A):c.-293G>A http://identifiers.org/clinvar/360077 ^@ NM_198428.2(BBS9):c.*336A>G http://identifiers.org/clinvar/360277 ^@ NM_000290.3(PGAM2):c.324G>A (p.Gly108=) http://identifiers.org/clinvar/360527 ^@ NM_004577.3(PSPH):c.-442A>G http://identifiers.org/clinvar/357138 ^@ NM_001024630.3(RUNX2):c.*2890A>G http://identifiers.org/clinvar/357588 ^@ NM_001723.5(DST):c.3346C>T (p.His1116Tyr) http://identifiers.org/clinvar/361216 ^@ NM_178857.5(RP1L1):c.6603A>T (p.Ala2201=) http://identifiers.org/clinvar/361266 ^@ NM_178857.5(RP1L1):c.4795C>G (p.Leu1599Val) http://identifiers.org/clinvar/361416 ^@ NM_178857.5(RP1L1):c.335C>G (p.Thr112Ser) http://identifiers.org/clinvar/361467 ^@ NM_001715.2(BLK):c.-203C>T http://identifiers.org/clinvar/363915 ^@ NM_153704.5(TMEM67):c.-33delG http://identifiers.org/clinvar/364015 ^@ NM_001001557.3(GDF6):c.*998G>C http://identifiers.org/clinvar/300018 ^@ NM_000124.3(ERCC6):c.*933G>A http://identifiers.org/clinvar/300118 ^@ NM_000242.2(MBL2):c.*1879A>C http://identifiers.org/clinvar/306572 ^@ NM_030962.3(SBF2):c.*40A>C http://identifiers.org/clinvar/306922 ^@ NM_018082.5(POLR3B):c.-106A>G http://identifiers.org/clinvar/300368 ^@ NM_018344.5(SLC29A3):c.1001A>G (p.Asn334Ser) http://identifiers.org/clinvar/307022 ^@ NM_052845.3(MMAB):c.*1873_*1874delTA http://identifiers.org/clinvar/300418 ^@ NM_022124.5(CDH23):c.2869C>T (p.Arg957Cys) http://identifiers.org/clinvar/307072 ^@ NM_052845.3(MMAB):c.*376T>A http://identifiers.org/clinvar/300518 ^@ NM_002778.3(PSAP):c.1000A>T (p.Thr334Ser) http://identifiers.org/clinvar/300568 ^@ NM_004273.4(CHST3):c.1428C>T (p.Phe476=) http://identifiers.org/clinvar/307322 ^@ NM_000192.3(TBX5):c.-648C>G http://identifiers.org/clinvar/307372 ^@ NM_005996.3(TBX3):c.777C>T (p.Ile259=) http://identifiers.org/clinvar/300718 ^@ NM_016065.3(MRPS16):c.275-7C>A http://identifiers.org/clinvar/307672 ^@ NM_004064.4(CDKN1B):c.*88A>G http://identifiers.org/clinvar/301018 ^@ NM_007055.3(POLR3A):c.*920T>C http://identifiers.org/clinvar/301068 ^@ NM_007055.3(POLR3A):c.1724A>T (p.Lys575Met) http://identifiers.org/clinvar/308122 ^@ NM_004985.4(KRAS):c.*176C>T http://identifiers.org/clinvar/309211 ^@ NM_000217.2(KCNA1):c.*4289T>A http://identifiers.org/clinvar/309111 ^@ NM_006009.3(TUBA1A):c.663T>C (p.Arg221=) http://identifiers.org/clinvar/298329 ^@ NM_000195.4(HPS1):c.*452G>A http://identifiers.org/clinvar/309311 ^@ NM_000617.2(SLC11A2):c.1258A>G (p.Ile420Val) http://identifiers.org/clinvar/309411 ^@ NM_014191.3(SCN8A):c.*3706delG http://identifiers.org/clinvar/309761 ^@ NM_001173467.2(SP7):c.1216C>T (p.Pro406Ser) http://identifiers.org/clinvar/309811 ^@ NM_002905.3(RDH5):c.265G>A (p.Val89Ile) http://identifiers.org/clinvar/309861 ^@ NM_012064.3(MIP):c.*1777dupG http://identifiers.org/clinvar/309911 ^@ NM_005379.3(MYO1A):c.1753T>G (p.Tyr585Asp) http://identifiers.org/clinvar/310061 ^@ NM_000552.4(VWF):c.5277C>T (p.Asp1759=) http://identifiers.org/clinvar/302607 ^@ NM_174934.3(SCN4B):c.*1962C>T http://identifiers.org/clinvar/302657 ^@ NM_000733.3(CD3E):c.-112G>A http://identifiers.org/clinvar/303007 ^@ NM_005422.2(TECTA):c.2367+9C>T http://identifiers.org/clinvar/314294 ^@ NM_000428.2(LTBP2):c.2788+15C>G http://identifiers.org/clinvar/314344 ^@ NM_001040108.1(MLH3):c.*3206C>T http://identifiers.org/clinvar/312705 ^@ NM_022489.3(INF2):c.3078C>T (p.Ser1026=) http://identifiers.org/clinvar/312755 ^@ NM_000270.3(PNP):c.*1272T>C http://identifiers.org/clinvar/322179 ^@ NM_016239.3(MYO15A):c.9772G>A (p.Val3258Ile) http://identifiers.org/clinvar/314594 ^@ NM_004863.3(SPTLC2):c.*4115G>T http://identifiers.org/clinvar/314644 ^@ NM_004863.3(SPTLC2):c.*1153T>A http://identifiers.org/clinvar/322279 ^@ NM_000430.3(PAFAH1B1):c.*1056C>T http://identifiers.org/clinvar/322679 ^@ NM_145068.3(TRPV3):c.*3149T>C http://identifiers.org/clinvar/314994 ^@ NM_004239.4(TRIP11):c.-365C>G http://identifiers.org/clinvar/322979 ^@ NM_001004334.3(GPR179):c.5350C>A (p.Pro1784Thr) http://identifiers.org/clinvar/341843 ^@ NM_001429.3(EP300):c.*592dupA http://identifiers.org/clinvar/323129 ^@ NM_000226.3(KRT9):c.1045-9G>T http://identifiers.org/clinvar/323279 ^@ NM_012232.5(CAVIN1):c.462G>C (p.Met154Ile) http://identifiers.org/clinvar/323379 ^@ NM_000151.3(G6PC):c.*1012C>T http://identifiers.org/clinvar/313794 ^@ NM_002382.4(MAX):c.*1123A>C http://identifiers.org/clinvar/342143 ^@ NM_001953.4(TYMP):c.930G>A (p.Gly310=) http://identifiers.org/clinvar/367744 ^@ NM_002294.2(LAMP2):c.*4562A>G http://identifiers.org/clinvar/313994 ^@ NM_000021.3(PSEN1):c.*3360A>G http://identifiers.org/clinvar/367844 ^@ NM_001167.3(XIAP):c.*5068_*5069insT http://identifiers.org/clinvar/314094 ^@ NM_031427.3(DNAL1):c.*4536C>T http://identifiers.org/clinvar/367894 ^@ NM_004208.3(AIFM1):c.72C>T (p.Cys24=) http://identifiers.org/clinvar/367944 ^@ NM_004840.2(ARHGEF6):c.642C>T (p.Val214=) http://identifiers.org/clinvar/314194 ^@ NM_182894.2(VSX2):c.533G>A (p.Arg178Gln) http://identifiers.org/clinvar/314244 ^@ NM_000428.2(LTBP2):c.*2026T>C http://identifiers.org/clinvar/368244 ^@ NM_004006.2(DMD):c.5047A>C (p.Thr1683Pro) http://identifiers.org/clinvar/368394 ^@ NM_007137.3(ZNF81):c.999T>C (p.Thr333=) http://identifiers.org/clinvar/368444 ^@ NM_007137.3(ZNF81):c.*4848G>A http://identifiers.org/clinvar/324275 ^@ NM_018488.3(TBX4):c.*136_*139delGTAT http://identifiers.org/clinvar/324427 ^@ NM_000789.3(ACE):c.*444C>T http://identifiers.org/clinvar/368694 ^@ NM_153252.4(BRWD3):c.*5133G>T http://identifiers.org/clinvar/314794 ^@ NM_018418.4(SPATA7):c.1683A>G (p.Thr561=) http://identifiers.org/clinvar/324727 ^@ NM_031220.3(PITPNM3):c.*959delG http://identifiers.org/clinvar/314894 ^@ NM_004239.4(TRIP11):c.*1744G>A http://identifiers.org/clinvar/325477 ^@ NM_001077620.2(PRCD):c.*265C>T http://identifiers.org/clinvar/325627 ^@ NM_000546.5(TP53):c.*773C>T http://identifiers.org/clinvar/373594 ^@ NM_003036.3(SKI):c.464C>G (p.Ala155Gly) http://identifiers.org/clinvar/373794 ^@ NM_015265.3(SATB2):c.1942_1943delCT (p.Leu648Phefs) http://identifiers.org/clinvar/373394 ^@ NM_002381.4(MATN3):c.946G>A (p.Gly316Arg) http://identifiers.org/clinvar/373144 ^@ NM_001010938.1(TNK2):c.1204-2A>G http://identifiers.org/clinvar/373494 ^@ NM_001034850.2(RETREG1):c.904T>C (p.Ser302Pro) http://identifiers.org/clinvar/373694 ^@ NM_001101426.3(ISPD):c.895G>C (p.Gly299Arg) http://identifiers.org/clinvar/373444 ^@ NM_001851.4(COL9A1):c.1557+6T>C http://identifiers.org/clinvar/373294 ^@ NM_020822.2(KCNT1):c.1067G>A (p.Arg356Gln) http://identifiers.org/clinvar/373244 ^@ NM_000719.6(CACNA1C):c.3061T>G (p.Cys1021Gly) http://identifiers.org/clinvar/373344 ^@ NM_000267.3(NF1):c.7852C>G (p.Leu2618Val) http://identifiers.org/clinvar/373194 ^@ NM_001083961.1(WDR62):c.3937G>A (p.Val1313Met) http://identifiers.org/clinvar/373544 ^@ NM_001396.3(DYRK1A):c.665-2A>G http://identifiers.org/clinvar/373744 ^@ NM_001127221.1(CACNA1A):c.3556+3G>T http://identifiers.org/clinvar/373644 ^@ NM_003611.2(OFD1):c.549dupT (p.Ala184Cysfs) http://identifiers.org/clinvar/373844 ^@ NG_005905.2:g.117282_121246del3965 http://identifiers.org/clinvar/373897 ^@ NM_153767.3(KCNJ1):c.262A>T (p.Lys88Ter) http://identifiers.org/clinvar/373997 ^@ NM_002700.2(POU4F3):c.553C>T (p.Arg185Cys) http://identifiers.org/clinvar/374147 ^@ NM_006940.5(SOX5):c.904C>T (p.Pro302Ser) http://identifiers.org/clinvar/374097 ^@ NM_000296.3(PKD1):c.8311G>A (p.Glu2771Lys) http://identifiers.org/clinvar/373947 ^@ NM_001042492.2(NF1):c.2410-1G>A http://identifiers.org/clinvar/374197 ^@ NM_001390.4(DTNA):c.177A>G (p.Ile59Met) http://identifiers.org/clinvar/374047 ^@ NM_006306.3(SMC1A):c.1996T>C (p.Trp666Arg) http://identifiers.org/clinvar/374251 ^@ NM_020812.3(DOCK6):c.934C>T (p.His312Tyr) http://identifiers.org/clinvar/374321 ^@ NM_012063.3(DNM1L):c.1135G>A (p.Glu379Lys) http://identifiers.org/clinvar/374386 ^@ NM_080629.2(COL11A1):c.2790+5G>A http://identifiers.org/clinvar/374439 ^@ NM_001127221.1(CACNA1A):c.55_56insGAGGAGGCTCCGGGG (p.Gly18_Ala19insGlyGlyGlySerGly) http://identifiers.org/clinvar/375340 ^@ NM_015697.7(COQ2):c.1197delT (p.Asn401IlefsTer15) http://identifiers.org/clinvar/375447 ^@ NM_007294.3(BRCA1):c.4981G>A (p.Glu1661Lys) http://identifiers.org/clinvar/375515 ^@ NM_001165963.1(SCN1A):c.4814A>T (p.Asn1605Ile) http://identifiers.org/clinvar/375573 ^@ NM_024529.4(CDC73):c.132-2A>G http://identifiers.org/clinvar/375632 ^@ NM_032531.3(KIRREL3):c.2019G>A (p.Met673Ile) http://identifiers.org/clinvar/375691 ^@ NM_003500.3(ACOX2):c.673C>T (p.Arg225Trp) http://identifiers.org/clinvar/375777 ^@ NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) http://identifiers.org/clinvar/375827 ^@ NM_000527.4(LDLR):c.1982C>T (p.Pro661Leu) http://identifiers.org/clinvar/375880 ^@ NM_175629.2(DNMT3A):c.2645G>C (p.Arg882Pro) http://identifiers.org/clinvar/375930 ^@ NM_000222.2(KIT):c.2465A>T (p.Asn822Ile) http://identifiers.org/clinvar/387434 ^@ NM_001256850.1(TTN):c.11922C>G (p.Val3974=) http://identifiers.org/clinvar/390823 ^@ NM_001256850.1(TTN):c.918C>T (p.Ser306=) http://identifiers.org/clinvar/380659 ^@ NM_000551.3(VHL):c.-38C>T http://identifiers.org/clinvar/391473 ^@ NM_000179.2(MSH6):c.2979A>G (p.Glu993=) http://identifiers.org/clinvar/387734 ^@ NM_000551.3(VHL):c.315G>C (p.Thr105=) http://identifiers.org/clinvar/386045 ^@ NM_014049.4(ACAD9):c.675G>A (p.Val225=) http://identifiers.org/clinvar/382151 ^@ NM_007208.3(MRPL3):c.782T>C (p.Met261Thr) http://identifiers.org/clinvar/392512 ^@ NM_015120.4(ALMS1):c.3382C>T (p.Pro1128Ser) http://identifiers.org/clinvar/381650 ^@ NM_000060.4(BTD):c.664G>A (p.Asp222Asn) http://identifiers.org/clinvar/383504 ^@ NM_018297.3(NGLY1):c.582G>A (p.Ala194=) http://identifiers.org/clinvar/392262 ^@ NM_006514.3(SCN10A):c.-8A>T http://identifiers.org/clinvar/381851 ^@ NM_007208.3(MRPL3):c.277+4A>C http://identifiers.org/clinvar/380108 ^@ NM_005051.2(QARS):c.854A>G (p.Asn285Ser) http://identifiers.org/clinvar/385795 ^@ NM_133259.3(LRPPRC):c.651-15G>A http://identifiers.org/clinvar/385945 ^@ NM_000249.3(MLH1):c.172T>C (p.Leu58=) http://identifiers.org/clinvar/393112 ^@ NM_006859.3(LIAS):c.708T>G (p.His236Gln) http://identifiers.org/clinvar/383755 ^@ NM_015120.4(ALMS1):c.327+21G>A http://identifiers.org/clinvar/388084 ^@ NM_000038.5(APC):c.6654A>G (p.Gln2218=) http://identifiers.org/clinvar/382101 ^@ NM_000038.5(APC):c.3207G>A (p.Arg1069=) http://identifiers.org/clinvar/393012 ^@ NM_053025.3(MYLK):c.2009A>T (p.His670Leu) http://identifiers.org/clinvar/388384 ^@ NM_032446.2(MEGF10):c.3180A>G (p.Pro1060=) http://identifiers.org/clinvar/388634 ^@ NM_002454.2(MTRR):c.1575A>C (p.Arg525=) http://identifiers.org/clinvar/386395 ^@ NM_000426.3(LAMA2):c.4857A>G (p.Leu1619=) http://identifiers.org/clinvar/379307 ^@ NM_000094.3(COL7A1):c.4670G>A (p.Gly1557Glu) http://identifiers.org/clinvar/386345 ^@ NM_001457.3(FLNB):c.282C>T (p.Leu94=) http://identifiers.org/clinvar/382603 ^@ NM_020320.4(RARS2):c.451+9T>C http://identifiers.org/clinvar/390473 ^@ NM_198999.2(SLC26A5):c.889-5T>C http://identifiers.org/clinvar/380158 ^@ NM_001167734.1(VARS2):c.2196+18G>T http://identifiers.org/clinvar/379958 ^@ NM_006348.3(COG5):c.327+16T>A http://identifiers.org/clinvar/379757 ^@ NM_001101.3(ACTB):c.363+16C>T http://identifiers.org/clinvar/380258 ^@ NM_004415.3(DSP):c.939+17C>T http://identifiers.org/clinvar/388534 ^@ NM_024531.4(SLC52A2):c.643C>T (p.Leu215=) http://identifiers.org/clinvar/381600 ^@ NM_000162.3(GCK):c.364-1G>A http://identifiers.org/clinvar/385745 ^@ NM_012470.3(TNPO3):c.1209A>G (p.Val403=) http://identifiers.org/clinvar/392212 ^@ NM_138361.5(LRSAM1):c.120G>A (p.Glu40=) http://identifiers.org/clinvar/385895 ^@ NM_001204824.1(KCNQ3):c.759G>A (p.Lys253=) http://identifiers.org/clinvar/386445 ^@ NM_000445.4(PLEC):c.8694C>T (p.Cys2898=) http://identifiers.org/clinvar/384945 ^@ NM_001130438.2(SPTAN1):c.2785C>T (p.Leu929=) http://identifiers.org/clinvar/383905 ^@ NM_000048.3(ASL):c.-44+10C>T http://identifiers.org/clinvar/387584 ^@ NM_000742.3(CHRNA2):c.150G>T (p.Pro50=) http://identifiers.org/clinvar/387534 ^@ NM_003165.3(STXBP1):c.249C>T (p.Ser83=) http://identifiers.org/clinvar/381700 ^@ NM_001130438.2(SPTAN1):c.2951G>A (p.Arg984Gln) http://identifiers.org/clinvar/379908 ^@ NM_001130438.2(SPTAN1):c.3160C>T (p.Arg1054Cys) http://identifiers.org/clinvar/392412 ^@ NM_017890.4(VPS13B):c.2788C>T (p.Gln930Ter) http://identifiers.org/clinvar/133037 ^@ NM_000540.2(RYR1):c.12406C>A (p.Arg4136Ser) http://identifiers.org/clinvar/133087 ^@ NM_000540.2(RYR1):c.14680G>A (p.Ala4894Thr) http://identifiers.org/clinvar/133137 ^@ NM_000540.2(RYR1):c.488G>T (p.Arg163Leu) http://identifiers.org/clinvar/133187 ^@ NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr) http://identifiers.org/clinvar/133237 ^@ NM_000540.2(RYR1):c.9123-61C>T http://identifiers.org/clinvar/133316 ^@ NM_001199917.1(PGM3):c.1585G>C (p.Glu529Gln) http://identifiers.org/clinvar/133379 ^@ NM_014225.5(PPP2R1A):c.78+113C>T http://identifiers.org/clinvar/133429 ^@ NM_000548.4(TSC2):c.336+377T>C http://identifiers.org/clinvar/133580 ^@ NM_015338.5(ASXL1):c.3745A>G (p.Met1249Val) http://identifiers.org/clinvar/133630 ^@ NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) http://identifiers.org/clinvar/133680 ^@ NM_001123383.1(BCOR):c.586A>C (p.Met196Leu) http://identifiers.org/clinvar/133731 ^@ NM_000059.3(BRCA2):c.3485C>T (p.Ala1162Val) http://identifiers.org/clinvar/133784 ^@ NM_032415.5(CARD11):c.1590A>C (p.Glu530Asp) http://identifiers.org/clinvar/134577 ^@ NM_000215.3(JAK3):c.58T>A (p.Ser20Thr) http://identifiers.org/clinvar/134627 ^@ NM_000222.2(KIT):c.2866C>T (p.Arg956Trp) http://identifiers.org/clinvar/134679 ^@ NM_003482.3(KMT2D):c.5477G>T (p.Gly1826Val) http://identifiers.org/clinvar/134730 ^@ NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) http://identifiers.org/clinvar/134780 ^@ NM_170606.2(KMT2C):c.9071G>C (p.Ser3024Thr) http://identifiers.org/clinvar/134831 ^@ NM_005373.2(MPL):c.742_743insCTGG (p.Asn250Trpfs) http://identifiers.org/clinvar/134884 ^@ NM_001042492.2(NF1):c.2572T>C (p.Ser858Pro) http://identifiers.org/clinvar/134934 ^@ NM_017617.4(NOTCH1):c.4129C>T (p.Pro1377Ser) http://identifiers.org/clinvar/134984 ^@ NM_024408.3(NOTCH2):c.7190C>G (p.Ala2397Gly) http://identifiers.org/clinvar/135034 ^@ NM_003924.3(PHOX2B):c.617C>G (p.Pro206Arg) http://identifiers.org/clinvar/135085 ^@ NM_001198.3(PRDM1):c.857G>C (p.Arg286Pro) http://identifiers.org/clinvar/135136 ^@ NM_004260.3(RECQL4):c.2377C>T (p.Pro793Ser) http://identifiers.org/clinvar/135187 ^@ NM_020975.4(RET):c.1336G>C (p.Gly446Arg) http://identifiers.org/clinvar/135469 ^@ NM_004628.4(XPC):c.2061G>A (p.Arg687=) http://identifiers.org/clinvar/135519 ^@ NM_001289936.1(ERBB2):c.22C>A (p.Pro8Thr) http://identifiers.org/clinvar/135570 ^@ NM_181825.2(NF2):c.*644A>G http://identifiers.org/clinvar/135645 ^@ NC_000006.10:g.(162784565_163027519)_(170688258_170899992)del http://identifiers.org/clinvar/135704 ^@ NM_000038.5(APC):c.4905G>A (p.Gly1635=) http://identifiers.org/clinvar/135756 ^@ NM_000051.3(ATM):c.482A>C (p.Gln161Pro) http://identifiers.org/clinvar/135814 ^@ NM_000059.3(BRCA2):c.750G>A (p.Val250=) http://identifiers.org/clinvar/135864 ^@ NM_000251.2(MSH2):c.819A>G (p.Val273=) http://identifiers.org/clinvar/135914 ^@ NM_000455.4(STK11):c.1113G>A (p.Gln371=) http://identifiers.org/clinvar/135965 ^@ NM_001127500.2(MET):c.2638-9T>C http://identifiers.org/clinvar/136016 ^@ NM_002354.2(EPCAM):c.147T>C (p.Thr49=) http://identifiers.org/clinvar/136066 ^@ NM_004360.4(CDH1):c.2439+10C>T http://identifiers.org/clinvar/136117 ^@ NM_020975.4(RET):c.31C>G (p.Leu11Val) http://identifiers.org/clinvar/136167 ^@ NM_130799.2(MEN1):c.1594G>T (p.Gly532Cys) http://identifiers.org/clinvar/136228 ^@ NM_020745.3(AARS2):c.1196A>G (p.Asn399Ser) http://identifiers.org/clinvar/136279 ^@ NM_001613.2(ACTA2):c.370-19T>C http://identifiers.org/clinvar/136329 ^@ NM_001625.3(AK2):c.219G>C (p.Leu73=) http://identifiers.org/clinvar/136380 ^@ NM_001148.4(ANK2):c.-39G>T http://identifiers.org/clinvar/186419 ^@ NM_001042492.2(NF1):c.8061T>C (p.Ser2687=) http://identifiers.org/clinvar/185169 ^@ NM_002878.3(RAD51D):c.972G>T (p.Gln324His) http://identifiers.org/clinvar/186269 ^@ NM_002878.3(RAD51D):c.473_480+1delAGGAACAGG http://identifiers.org/clinvar/187761 ^@ NM_007294.3(BRCA1):c.3857G>C (p.Ser1286Thr) http://identifiers.org/clinvar/184030 ^@ NM_007294.3(BRCA1):c.1728A>G (p.Lys576=) http://identifiers.org/clinvar/184380 ^@ NM_007294.3(BRCA1):c.834T>G (p.Thr278=) http://identifiers.org/clinvar/186871 ^@ NM_032043.2(BRIP1):c.2611C>T (p.His871Tyr) http://identifiers.org/clinvar/185619 ^@ NM_032043.2(BRIP1):c.537A>G (p.Glu179=) http://identifiers.org/clinvar/185319 ^@ NM_000546.5(TP53):c.827C>G (p.Ala276Gly) http://identifiers.org/clinvar/183879 ^@ NM_005359.5(SMAD4):c.940A>G (p.Ile314Val) http://identifiers.org/clinvar/185219 ^@ NM_007194.3(CHEK2):c.1562G>A (p.Arg521Gln) http://identifiers.org/clinvar/186921 ^@ NM_007194.3(CHEK2):c.409_417delCGAACATAC (p.Arg137_Tyr139del) http://identifiers.org/clinvar/187821 ^@ NC_000005.9:g.(?_174397487)_(180686444_?)del http://identifiers.org/clinvar/187893 ^@ NM_005957.4(MTHFR):c.1320G>A (p.Ser440=) http://identifiers.org/clinvar/187943 ^@ NM_004409.4(DMPK):c.*224_*226[236] http://identifiers.org/clinvar/187993 ^@ NM_004409.4(DMPK):c.*224_*226[501] http://identifiers.org/clinvar/188043 ^@ NM_004409.4(DMPK):c.*224_*226[98] http://identifiers.org/clinvar/188248 ^@ NM_000535.6(PMS2):c.1901A>G (p.His634Arg) http://identifiers.org/clinvar/188354 ^@ NM_130799.2(MEN1):c.1567G>C (p.Ala523Pro) http://identifiers.org/clinvar/188094 ^@ NM_004360.4(CDH1):c.164-?_*(1_?)dup http://identifiers.org/clinvar/188195 ^@ NM_000304.3(PMP22):c.185T>G (p.Leu62Arg) http://identifiers.org/clinvar/188301 ^@ NM_181882.2(PRX):c.3400G>T (p.Val1134Leu) http://identifiers.org/clinvar/188145 ^@ NM_003098.2(SNTA1):c.1442C>T (p.Ser481Leu) http://identifiers.org/clinvar/188513 ^@ NM_000251.2(MSH2):c.475dupA (p.Arg159Lysfs) http://identifiers.org/clinvar/188463 ^@ NM_004415.3(DSP):c.2822G>A (p.Arg941Gln) http://identifiers.org/clinvar/188563 ^@ NM_000256.3(MYBPC3):c.2189C>T (p.Thr730Ile) http://identifiers.org/clinvar/188663 ^@ NM_004572.3(PKP2):c.2443_2448delAACACCinsGAAA (p.Asn815Glufs) http://identifiers.org/clinvar/188613 ^@ NM_000257.3(MYH7):c.2044+39A>T http://identifiers.org/clinvar/188411 ^@ NM_007294.3(BRCA1):c.4185+14G>C http://identifiers.org/clinvar/188964 ^@ NM_000027.3(AGA):c.34G>T (p.Val12Leu) http://identifiers.org/clinvar/188914 ^@ NM_000128.3(F11):c.408C>A (p.Cys136Ter) http://identifiers.org/clinvar/188813 ^@ NM_138694.3(PKHD1):c.6992T>A (p.Ile2331Lys) http://identifiers.org/clinvar/188863 ^@ NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) http://identifiers.org/clinvar/189015 ^@ NM_000053.3(ATP7B):c.3649_3654delGTTCTG (p.Val1217_Leu1218del) http://identifiers.org/clinvar/188713 ^@ NM_000053.3(ATP7B):c.2804C>T (p.Thr935Met) http://identifiers.org/clinvar/188763 ^@ NM_000303.2(PMM2):c.470T>C (p.Phe157Ser) http://identifiers.org/clinvar/228980 ^@ NM_004999.3(MYO6):c.3646C>G (p.Leu1216Val) http://identifiers.org/clinvar/229130 ^@ NM_001142771.1(PCDH15):c.*14A>G http://identifiers.org/clinvar/228880 ^@ NM_002471.3(MYH6):c.2368A>G (p.Met790Val) http://identifiers.org/clinvar/229280 ^@ NM_153700.2(STRC):c.877G>A (p.Gly293Ser) http://identifiers.org/clinvar/228830 ^@ NM_144612.6(LOXHD1):c.4877-3C>A http://identifiers.org/clinvar/229330 ^@ NM_000363.4(TNNI3):c.109-15A>G http://identifiers.org/clinvar/228930 ^@ NM_002473.5(MYH9):c.5225_5239delAGGGCAACACGGAGC (p.Gln1742_Glu1746del) http://identifiers.org/clinvar/227310 ^@ NM_004006.2(DMD):c.7596C>T (p.Thr2532=) http://identifiers.org/clinvar/228780 ^@ NM_002290.4(LAMA4):c.254A>G (p.Asn85Ser) http://identifiers.org/clinvar/229380 ^@ NM_144991.2(TSPEAR):c.608G>A (p.Arg203Gln) http://identifiers.org/clinvar/234648 ^@ NM_000179.2(MSH6):c.3662C>G (p.Thr1221Arg) http://identifiers.org/clinvar/234446 ^@ NM_000314.6(PTEN):c.635-1G>C http://identifiers.org/clinvar/234378 ^@ NM_000431.3(MVK):c.226+4A>G http://identifiers.org/clinvar/234548 ^@ NM_004360.4(CDH1):c.1336G>A (p.Ala446Thr) http://identifiers.org/clinvar/234271 ^@ NM_004655.3(AXIN2):c.356A>G (p.Gln119Arg) http://identifiers.org/clinvar/234326 ^@ NM_014646.2(LPIN2):c.56A>G (p.Tyr19Cys) http://identifiers.org/clinvar/234598 ^@ NM_000455.4(STK11):c.827G>A (p.Gly276Asp) http://identifiers.org/clinvar/234698 ^@ NM_000214.2(JAG1):c.2312A>G (p.Lys771Arg) http://identifiers.org/clinvar/234497 ^@ NM_007194.3(CHEK2):c.920G>A (p.Gly307Glu) http://identifiers.org/clinvar/229982 ^@ NM_001128425.1(MUTYH):c.1461C>T (p.Ser487=) http://identifiers.org/clinvar/230971 ^@ NM_001128425.1(MUTYH):c.467G>A (p.Trp156Ter) http://identifiers.org/clinvar/231671 ^@ NM_000465.3(BARD1):c.1708C>G (p.Leu570Val) http://identifiers.org/clinvar/231971 ^@ NM_000251.2(MSH2):c.-68-173A>T http://identifiers.org/clinvar/229782 ^@ NM_000251.2(MSH2):c.160G>A (p.Ala54Thr) http://identifiers.org/clinvar/232371 ^@ NM_000251.2(MSH2):c.1144C>T (p.Arg382Cys) http://identifiers.org/clinvar/233561 ^@ NM_000179.2(MSH6):c.383G>A (p.Arg128His) http://identifiers.org/clinvar/233661 ^@ NM_000179.2(MSH6):c.1932G>A (p.Arg644=) http://identifiers.org/clinvar/233711 ^@ NM_000179.2(MSH6):c.3524C>G (p.Thr1175Ser) http://identifiers.org/clinvar/233611 ^@ NM_000038.5(APC):c.4015G>C (p.Gly1339Arg) http://identifiers.org/clinvar/264463 ^@ NM_002474.2(MYH11):c.2562G>A (p.Met854Ile) http://identifiers.org/clinvar/264933 ^@ NM_000059.3(BRCA2):c.7805+507A>G http://identifiers.org/clinvar/264883 ^@ NM_000059.3(BRCA2):c.8331+943T>G http://identifiers.org/clinvar/264983 ^@ NM_000059.3(BRCA2):c.9257-6271G>A http://identifiers.org/clinvar/264833 ^@ NM_007294.3(BRCA1):c.5277+315T>C http://identifiers.org/clinvar/264783 ^@ NM_007294.3(BRCA1):c.442-740_442-738del http://identifiers.org/clinvar/265138 ^@ NM_033084.4(FANCD2):c.2605+1G>A http://identifiers.org/clinvar/265035 ^@ NM_001004127.2(ALG11):c.1402C>T (p.Arg468Cys) http://identifiers.org/clinvar/265088 ^@ NM_000397.3(CYBB):c.448G>T (p.Glu150Ter) http://identifiers.org/clinvar/265922 ^@ NM_174936.3(PCSK9):c.400-22C>A http://identifiers.org/clinvar/267285 ^@ NM_000146.3(FTL):c.-178T>G http://identifiers.org/clinvar/265977 ^@ NM_003611.2(OFD1):c.1990dupC (p.Leu665Thrfs*35) http://identifiers.org/clinvar/266028 ^@ NM_001029882.3(AHDC1):c.2229delG (p.Ser744Profs) http://identifiers.org/clinvar/266104 ^@ NM_003611.2(OFD1):c.1246delC (p.Gln416Serfs) http://identifiers.org/clinvar/266804 ^@ NM_000059.3(BRCA2):c.433_437delGTTCT (p.Val145Thrfs) http://identifiers.org/clinvar/266604 ^@ NM_000059.3(BRCA2):c.1053dupA (p.Tyr352Ilefs) http://identifiers.org/clinvar/266654 ^@ NM_000059.3(BRCA2):c.1705_1706delCA (p.Gln569Glufs) http://identifiers.org/clinvar/266704 ^@ NM_000059.3(BRCA2):c.2509_2513delGAAAA (p.Glu837Ilefs) http://identifiers.org/clinvar/266754 ^@ NM_000059.3(BRCA2):c.3497delT (p.Val1166Alafs) http://identifiers.org/clinvar/266854 ^@ NM_000059.3(BRCA2):c.5157_5160delTTCA (p.Asn1719Lysfs) http://identifiers.org/clinvar/266904 ^@ NM_000059.3(BRCA2):c.5919delT (p.Asn1973Lysfs) http://identifiers.org/clinvar/266954 ^@ NM_000059.3(BRCA2):c.6510dupA (p.Val2171Serfs) http://identifiers.org/clinvar/267004 ^@ NM_000059.3(BRCA2):c.7363delC (p.His2455Ilefs) http://identifiers.org/clinvar/267054 ^@ NM_000059.3(BRCA2):c.8067_8068insTT (p.Val2690Leufs) http://identifiers.org/clinvar/267104 ^@ NM_000059.3(BRCA2):c.8710_8711insAG (p.Leu2904Glnfs) http://identifiers.org/clinvar/267154 ^@ NM_000059.3(BRCA2):c.9351dupT (p.Met3118Tyrfs) http://identifiers.org/clinvar/266554 ^@ NM_007294.3(BRCA1):c.5486_5510del25 (p.Glu1829Glyfs) http://identifiers.org/clinvar/266504 ^@ NM_007294.3(BRCA1):c.4891delA (p.Ser1631Valfs) http://identifiers.org/clinvar/266454 ^@ NM_007294.3(BRCA1):c.4175delT (p.Leu1392Terfs) http://identifiers.org/clinvar/266404 ^@ NM_007294.3(BRCA1):c.3756_3760delGTCTA (p.Ser1253Glufs) http://identifiers.org/clinvar/266304 ^@ NM_007294.3(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930Leufs) http://identifiers.org/clinvar/266254 ^@ NM_007294.3(BRCA1):c.2368_2369delAC (p.Thr790Serfs) http://identifiers.org/clinvar/266204 ^@ NM_007294.3(BRCA1):c.1942G>T (p.Glu648Ter) http://identifiers.org/clinvar/266154 ^@ NM_007294.3(BRCA1):c.1288dupG (p.Asp430Glyfs) http://identifiers.org/clinvar/266354 ^@ NM_007294.3(BRCA1):c.331delG (p.Glu111Lysfs) http://identifiers.org/clinvar/267223 ^@ NM_007294.3(BRCA1):c.442-43_524del http://identifiers.org/clinvar/291083 ^@ NM_001099922.2(ALG13):c.1910T>C (p.Met637Thr) http://identifiers.org/clinvar/291133 ^@ NM_004006.2(DMD):c.3603+7A>G http://identifiers.org/clinvar/291184 ^@ NM_030665.3(RAI1):c.3096delG (p.Gln1035Argfs) http://identifiers.org/clinvar/291234 ^@ NM_013227.3(ACAN):c.3351C>T (p.Thr1117=) http://identifiers.org/clinvar/291284 ^@ NM_000392.4(ABCC2):c.2641G>A (p.Glu881Lys) http://identifiers.org/clinvar/291399 ^@ NM_001918.3(DBT):c.*5875T>G http://identifiers.org/clinvar/291449 ^@ NM_001918.3(DBT):c.*456C>G http://identifiers.org/clinvar/291499 ^@ NM_001854.3(COL11A1):c.4594C>G (p.Pro1532Ala) http://identifiers.org/clinvar/291549 ^@ NM_001854.3(COL11A1):c.318A>G (p.Lys106=) http://identifiers.org/clinvar/291599 ^@ NM_015074.3(KIF1B):c.*712G>A http://identifiers.org/clinvar/293001 ^@ NM_003126.2(SPTA1):c.3160A>T (p.Thr1054Ser) http://identifiers.org/clinvar/292951 ^@ NM_003126.2(SPTA1):c.6530+15A>T http://identifiers.org/clinvar/293051 ^@ NM_003126.2(SPTA1):c.679-5A>C http://identifiers.org/clinvar/293101 ^@ NM_002241.4(KCNJ10):c.*1788C>T http://identifiers.org/clinvar/292551 ^@ NM_019032.5(ADAMTSL4):c.2305C>G (p.Leu769Val) http://identifiers.org/clinvar/293401 ^@ NM_004431.4(EPHA2):c.*284C>T http://identifiers.org/clinvar/293301 ^@ NM_000530.7(MPZ):c.*954C>A http://identifiers.org/clinvar/292601 ^@ NM_000449.3(RFX5):c.*838A>G http://identifiers.org/clinvar/293801 ^@ NM_022089.3(ATP13A2):c.1040-6C>T http://identifiers.org/clinvar/293501 ^@ NM_005149.2(TBX19):c.*1234C>T http://identifiers.org/clinvar/293651 ^@ NM_152281.2(GORAB):c.263A>G (p.Glu88Gly) http://identifiers.org/clinvar/293601 ^@ NM_000130.4(F5):c.4035A>G (p.Gln1345=) http://identifiers.org/clinvar/293751 ^@ NM_000639.2(FASLG):c.*629_*632delGTGT http://identifiers.org/clinvar/293151 ^@ NM_000702.3(ATP1A2):c.*686G>A http://identifiers.org/clinvar/294051 ^@ NM_005562.2(LAMC2):c.*1265G>C http://identifiers.org/clinvar/293201 ^@ NM_002857.3(PEX19):c.*1852C>G http://identifiers.org/clinvar/293951 ^@ NM_002065.6(GLUL):c.-158C>T http://identifiers.org/clinvar/294101 ^@ NM_031935.2(HMCN1):c.861G>A (p.Val287=) http://identifiers.org/clinvar/294151 ^@ NM_031935.2(HMCN1):c.4515C>G (p.Asp1505Glu) http://identifiers.org/clinvar/293251 ^@ NM_000309.3(PPOX):c.471+3G>A http://identifiers.org/clinvar/293451 ^@ NM_004431.4(EPHA2):c.-81G>T http://identifiers.org/clinvar/293351 ^@ NM_003001.3(SDHC):c.*1534G>T http://identifiers.org/clinvar/293551 ^@ NM_000130.4(F5):c.*1246C>T http://identifiers.org/clinvar/293701 ^@ NM_006894.5(FMO3):c.*374A>G http://identifiers.org/clinvar/295040 ^@ NM_005216.4(DDOST):c.*577_*578insTAAATAAATAAATAAAAAAAAAAA http://identifiers.org/clinvar/295140 ^@ NM_000228.2(LAMB3):c.388G>T (p.Gly130Cys) http://identifiers.org/clinvar/335846 ^@ NM_014946.3(SPAST):c.*494C>T http://identifiers.org/clinvar/344232 ^@ NM_031955.5(SPATA16):c.-142G>A http://identifiers.org/clinvar/344282 ^@ NM_181426.1(CCDC39):c.42G>A (p.Gly14=) http://identifiers.org/clinvar/335946 ^@ NM_000104.3(CYP1B1):c.*118C>G http://identifiers.org/clinvar/344382 ^@ NM_003722.4(TP63):c.699A>G (p.Lys233=) http://identifiers.org/clinvar/344532 ^@ NM_000461.4(THRB):c.*5728G>A http://identifiers.org/clinvar/343682 ^@ NM_031850.3(AGTR1):c.*362G>A http://identifiers.org/clinvar/343732 ^@ NM_032383.4(HPS3):c.*135T>C http://identifiers.org/clinvar/336553 ^@ NM_001135659.2(NRXN1):c.752G>A (p.Arg251His) http://identifiers.org/clinvar/343782 ^@ NM_000096.3(CP):c.788A>G (p.Asn263Ser) http://identifiers.org/clinvar/344782 ^@ NM_000404.3(GLB1):c.*182A>G http://identifiers.org/clinvar/336346 ^@ NM_139279.5(MCFD2):c.*1995G>A http://identifiers.org/clinvar/336703 ^@ NM_002618.3(PEX13):c.*2356T>C http://identifiers.org/clinvar/345332 ^@ NM_002222.5(ITPR1):c.-244G>A http://identifiers.org/clinvar/345382 ^@ NM_020208.3(SLC6A20):c.*1044delC http://identifiers.org/clinvar/336853 ^@ NM_002056.3(GFPT1):c.*1090G>A http://identifiers.org/clinvar/344582 ^@ NM_000461.4(THRB):c.*3017C>T http://identifiers.org/clinvar/344732 ^@ NM_015141.3(GPD1L):c.*132T>C http://identifiers.org/clinvar/336953 ^@ NM_003494.3(DYSF):c.1415A>G (p.Asn472Ser) http://identifiers.org/clinvar/344832 ^@ NM_006371.4(CRTAP):c.*1124C>A http://identifiers.org/clinvar/344882 ^@ NM_006371.4(CRTAP):c.*4422C>G http://identifiers.org/clinvar/342393 ^@ NM_033084.4(FANCD2):c.*538G>A http://identifiers.org/clinvar/342293 ^@ NM_016247.3(IMPG2):c.*2566delA http://identifiers.org/clinvar/342493 ^@ NM_000551.3(VHL):c.*3021T>C http://identifiers.org/clinvar/342443 ^@ NM_000551.3(VHL):c.*1677C>T http://identifiers.org/clinvar/342593 ^@ NM_198196.2(CD96):c.*2514T>G http://identifiers.org/clinvar/342693 ^@ NM_020754.3(ARHGAP31):c.*1186A>G http://identifiers.org/clinvar/342643 ^@ NM_020754.3(ARHGAP31):c.1371G>T (p.Ser457=) http://identifiers.org/clinvar/342843 ^@ NM_053025.3(MYLK):c.*812C>A http://identifiers.org/clinvar/342743 ^@ NM_000187.3(HGD):c.835C>A (p.Leu279Met) http://identifiers.org/clinvar/342793 ^@ NM_000388.3(CASR):c.-137C>A http://identifiers.org/clinvar/342943 ^@ NM_000373.3(UMPS):c.*814C>T http://identifiers.org/clinvar/346521 ^@ NM_000248.3(MITF):c.*1150T>C http://identifiers.org/clinvar/346621 ^@ NM_032682.5(FOXP1):c.*923_*928dupCAGAAA http://identifiers.org/clinvar/346721 ^@ NM_002942.4(ROBO2):c.*699G>T http://identifiers.org/clinvar/346771 ^@ NM_002942.4(ROBO2):c.*3809A>C http://identifiers.org/clinvar/343882 ^@ NM_004733.3(SLC33A1):c.169G>C (p.Gly57Arg) http://identifiers.org/clinvar/343932 ^@ NM_024996.5(GFM1):c.1343A>G (p.Asp448Gly) http://identifiers.org/clinvar/348460 ^@ NM_133330.2(NSD2):c.*593G>T http://identifiers.org/clinvar/361876 ^@ NM_004519.3(KCNQ3):c.1980C>A (p.Thr660=) http://identifiers.org/clinvar/361976 ^@ NM_003235.4(TG):c.5485C>T (p.Arg1829Trp) http://identifiers.org/clinvar/354448 ^@ NM_004385.4(VCAN):c.7743T>C (p.Asp2581=) http://identifiers.org/clinvar/362576 ^@ NM_006129.4(BMP1):c.178G>A (p.Glu60Lys) http://identifiers.org/clinvar/354498 ^@ NM_004385.4(VCAN):c.*1652G>C http://identifiers.org/clinvar/354598 ^@ NM_002397.4(MEF2C):c.-414A>G http://identifiers.org/clinvar/354648 ^@ NM_000439.4(PCSK1):c.1179T>C (p.Ala393=) http://identifiers.org/clinvar/359277 ^@ NM_014141.5(CNTNAP2):c.*5337delC http://identifiers.org/clinvar/354848 ^@ NM_007214.4(SEC63):c.*2456G>A http://identifiers.org/clinvar/359477 ^@ NM_058246.3(DNAJB6):c.*787G>T http://identifiers.org/clinvar/355048 ^@ NM_014845.5(FIG4):c.2547-4A>G http://identifiers.org/clinvar/355299 ^@ NM_000426.3(LAMA2):c.7708A>G (p.Thr2570Ala) http://identifiers.org/clinvar/363965 ^@ NM_018444.3(PDP1):c.*1609A>G http://identifiers.org/clinvar/355399 ^@ NM_006208.2(ENPP1):c.*2036A>G http://identifiers.org/clinvar/355449 ^@ NM_172105.3(EYA4):c.*333G>A http://identifiers.org/clinvar/360177 ^@ NM_000168.5(GLI3):c.*2117A>G http://identifiers.org/clinvar/360227 ^@ NM_000168.5(GLI3):c.3984C>T (p.Leu1328=) http://identifiers.org/clinvar/360477 ^@ NM_005228.4(EGFR):c.*281_*282insGA http://identifiers.org/clinvar/355799 ^@ NM_033071.3(SYNE1):c.*449T>C http://identifiers.org/clinvar/356588 ^@ NM_005943.5(MOCS1):c.*2696C>G http://identifiers.org/clinvar/356438 ^@ NM_021922.2(FANCE):c.-100C>T http://identifiers.org/clinvar/356538 ^@ NM_182548.3(LHFPL5):c.*511_*512insTCTCTC http://identifiers.org/clinvar/361366 ^@ NM_178857.5(RP1L1):c.1806G>C (p.Thr602=) http://identifiers.org/clinvar/356638 ^@ NM_005943.5(MOCS1):c.*852A>G http://identifiers.org/clinvar/356838 ^@ NM_014780.4(CUL7):c.2603A>G (p.Asn868Ser) http://identifiers.org/clinvar/356738 ^@ NM_002098.5(GUCA1B):c.-35C>T http://identifiers.org/clinvar/356888 ^@ NM_006502.2(POLH):c.-239G>T http://identifiers.org/clinvar/356938 ^@ NM_006502.2(POLH):c.*1179G>A http://identifiers.org/clinvar/356988 ^@ NM_006502.2(POLH):c.*3847G>A http://identifiers.org/clinvar/357188 ^@ NM_012120.2(CD2AP):c.*490_*495dupGTGTGT http://identifiers.org/clinvar/357088 ^@ NM_001024630.3(RUNX2):c.-40C>T http://identifiers.org/clinvar/303107 ^@ NM_006918.4(SC5D):c.*4912C>T http://identifiers.org/clinvar/303157 ^@ NM_018400.3(SCN3B):c.*2203C>A http://identifiers.org/clinvar/367165 ^@ NM_000170.2(GLDC):c.*410G>C http://identifiers.org/clinvar/311255 ^@ NM_000131.4(F7):c.*991G>A http://identifiers.org/clinvar/367265 ^@ NM_138691.2(TMC1):c.*106G>C http://identifiers.org/clinvar/303507 ^@ NM_016952.4(CDON):c.1940C>T (p.Pro647Leu) http://identifiers.org/clinvar/367644 ^@ NM_000264.3(PTCH1):c.*1535T>C http://identifiers.org/clinvar/311855 ^@ NM_001127217.2(SMAD9):c.*1667A>G http://identifiers.org/clinvar/364065 ^@ NM_014290.2(TDRD7):c.854C>T (p.Thr285Met) http://identifiers.org/clinvar/312055 ^@ NM_207361.5(FREM2):c.*1597A>G http://identifiers.org/clinvar/364165 ^@ NM_004612.3(TGFBR1):c.*3314A>G http://identifiers.org/clinvar/312255 ^@ NM_003850.2(SUCLA2):c.*468A>G http://identifiers.org/clinvar/312555 ^@ NM_005708.4(GPC6):c.1601G>A (p.Arg534His) http://identifiers.org/clinvar/312655 ^@ NM_001376.4(DYNC1H1):c.12258C>T (p.Thr4086=) http://identifiers.org/clinvar/298879 ^@ NM_007373.3(SHOC2):c.*1245T>C http://identifiers.org/clinvar/312805 ^@ NM_001126106.2(SLC7A7):c.*323_*326dupGTCT http://identifiers.org/clinvar/298529 ^@ NM_022039.3(FBXW4):c.1008C>T (p.His336=) http://identifiers.org/clinvar/312955 ^@ NM_001099274.1(TINF2):c.359A>G (p.Gln120Arg) http://identifiers.org/clinvar/313005 ^@ NM_004086.2(COCH):c.1478-10T>C http://identifiers.org/clinvar/298579 ^@ NM_016169.3(SUFU):c.*352C>G http://identifiers.org/clinvar/313694 ^@ NM_000347.5(SPTB):c.*252A>G http://identifiers.org/clinvar/313844 ^@ NM_152443.2(RDH12):c.*27G>A http://identifiers.org/clinvar/313944 ^@ NM_000021.3(PSEN1):c.21G>A (p.Pro7=) http://identifiers.org/clinvar/314144 ^@ NM_031427.3(DNAL1):c.*7076C>T http://identifiers.org/clinvar/299768 ^@ NM_014915.2(ANKRD26):c.-113A>C http://identifiers.org/clinvar/299818 ^@ NM_021252.4(RAB18):c.298G>C (p.Asp100His) http://identifiers.org/clinvar/299868 ^@ NM_021252.4(RAB18):c.*3193C>T http://identifiers.org/clinvar/314444 ^@ NM_003239.4(TGFB3):c.*255C>T http://identifiers.org/clinvar/314494 ^@ NM_004452.3(ESRRB):c.*376C>G http://identifiers.org/clinvar/314544 ^@ NM_013382.5(POMT2):c.*594G>A http://identifiers.org/clinvar/300168 ^@ NM_033056.3(PCDH15):c.5566G>A (p.Glu1856Lys) http://identifiers.org/clinvar/314844 ^@ NM_018319.3(TDP1):c.*264G>T http://identifiers.org/clinvar/314944 ^@ NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) http://identifiers.org/clinvar/305858 ^@ NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) http://identifiers.org/clinvar/306008 ^@ NM_001145308.4(LRTOMT):c.*437T>C http://identifiers.org/clinvar/299918 ^@ NM_020975.4(RET):c.*749dupC http://identifiers.org/clinvar/299968 ^@ NM_002900.2(RBP3):c.2247C>T (p.Asp749=) http://identifiers.org/clinvar/300068 ^@ NM_000124.3(ERCC6):c.2365C>G (p.Leu789Val) http://identifiers.org/clinvar/306472 ^@ NM_005591.3(MRE11):c.*669C>G http://identifiers.org/clinvar/300818 ^@ NM_014000.2(VCL):c.*1709_*1712dupAAGA http://identifiers.org/clinvar/300868 ^@ NM_012330.3(KAT6B):c.1675A>G (p.Lys559Glu) http://identifiers.org/clinvar/300268 ^@ NM_000399.4(EGR2):c.*655G>A http://identifiers.org/clinvar/309961 ^@ NM_004984.2(KIF5A):c.*435C>T http://identifiers.org/clinvar/310011 ^@ NM_001172696.1(TSFM):c.361-14A>G http://identifiers.org/clinvar/310111 ^@ NM_001065.3(TNFRSF1A):c.532G>A (p.Glu178Lys) http://identifiers.org/clinvar/318546 ^@ NM_001089.2(ABCA3):c.1336G>A (p.Asp446Asn) http://identifiers.org/clinvar/318596 ^@ NM_001089.2(ABCA3):c.-502C>G http://identifiers.org/clinvar/311755 ^@ NM_015087.4(SPG20):c.*716G>A http://identifiers.org/clinvar/330166 ^@ NM_206828.3(NLRP7):c.1548T>C (p.Ile516=) http://identifiers.org/clinvar/318646 ^@ NM_020705.2(TBC1D24):c.*1658C>T http://identifiers.org/clinvar/318746 ^@ NM_003321.4(TUFM):c.894T>C (p.His298=) http://identifiers.org/clinvar/311955 ^@ NM_207361.5(FREM2):c.2165G>A (p.Arg722Lys) http://identifiers.org/clinvar/312005 ^@ NM_207361.5(FREM2):c.6307C>T (p.Arg2103Cys) http://identifiers.org/clinvar/330466 ^@ NM_000208.3(INSR):c.2007C>T (p.Phe669=) http://identifiers.org/clinvar/330516 ^@ NM_006702.4(PNPLA6):c.531G>A (p.Pro177=) http://identifiers.org/clinvar/337942 ^@ NM_198994.2(TGM6):c.*87C>A http://identifiers.org/clinvar/312355 ^@ NM_000053.3(ATP7B):c.*1265A>G http://identifiers.org/clinvar/312505 ^@ NM_052910.2(SLITRK1):c.117C>T (p.His39=) http://identifiers.org/clinvar/319536 ^@ NM_015247.2(CYLD):c.*2305A>T http://identifiers.org/clinvar/319586 ^@ NM_002968.2(SALL1):c.*588delT http://identifiers.org/clinvar/319836 ^@ NM_001043.3(SLC6A2):c.*998A>C http://identifiers.org/clinvar/311305 ^@ NM_021954.3(GJA3):c.*1565A>G http://identifiers.org/clinvar/319936 ^@ NM_000339.2(SLC12A3):c.*518T>A http://identifiers.org/clinvar/338492 ^@ NM_000457.4(HNF4A):c.*3024C>T http://identifiers.org/clinvar/312905 ^@ NM_000257.3(MYH7):c.2955G>A (p.Leu985=) http://identifiers.org/clinvar/338642 ^@ NM_000311.4(PRNP):c.-22C>G http://identifiers.org/clinvar/338692 ^@ NM_006420.2(ARFGEF2):c.2286_2288delGTT (p.Phe763del) http://identifiers.org/clinvar/320336 ^@ NM_001605.2(AARS):c.1824G>A (p.Thr608=) http://identifiers.org/clinvar/338843 ^@ NM_000782.4(CYP24A1):c.-76C>T http://identifiers.org/clinvar/320536 ^@ NM_021615.4(CHST6):c.*3490T>C http://identifiers.org/clinvar/320636 ^@ NM_001130089.1(KARS):c.753+6C>T http://identifiers.org/clinvar/311905 ^@ NM_001127217.2(SMAD9):c.348A>G (p.Pro116=) http://identifiers.org/clinvar/320736 ^@ NM_012213.2(MLYCD):c.1336G>A (p.Gly446Ser) http://identifiers.org/clinvar/339443 ^@ NM_025219.2(DNAJC5):c.*4131C>T http://identifiers.org/clinvar/312105 ^@ NM_207361.5(FREM2):c.*5598_*5599dupTA http://identifiers.org/clinvar/312155 ^@ NM_020751.2(COG6):c.*205C>G http://identifiers.org/clinvar/312205 ^@ NM_014252.3(SLC25A15):c.*1682C>T http://identifiers.org/clinvar/313894 ^@ NM_015346.3(ZFYVE26):c.4502C>T (p.Thr1501Met) http://identifiers.org/clinvar/314044 ^@ NM_031427.3(DNAL1):c.*1802A>T http://identifiers.org/clinvar/312405 ^@ NM_000053.3(ATP7B):c.-75C>A http://identifiers.org/clinvar/312455 ^@ NM_000115.4(EDNRB):c.*1514G>T http://identifiers.org/clinvar/326967 ^@ NM_001080467.2(MYO5B):c.*1610G>C http://identifiers.org/clinvar/368144 ^@ NM_171998.3(RAB39B):c.*282G>T http://identifiers.org/clinvar/327217 ^@ NM_005359.5(SMAD4):c.*6423G>C http://identifiers.org/clinvar/327417 ^@ NM_000140.3(FECH):c.*394C>G http://identifiers.org/clinvar/368594 ^@ NM_000032.4(ALAS2):c.1321G>A (p.Glu441Lys) http://identifiers.org/clinvar/368644 ^@ NM_002637.3(PHKA1):c.3511G>A (p.Ala1171Thr) http://identifiers.org/clinvar/330216 ^@ NM_001256714.1(DNAAF3):c.919G>A (p.Ala307Thr) http://identifiers.org/clinvar/337892 ^@ NM_000361.2(THBD):c.656G>T (p.Gly219Val) http://identifiers.org/clinvar/338292 ^@ NM_000178.3(GSS):c.*2G>A http://identifiers.org/clinvar/338742 ^@ NM_006420.2(ARFGEF2):c.*2805_*2806dupAA http://identifiers.org/clinvar/338893 ^@ NM_002591.3(PCK1):c.1658C>T (p.Thr553Met) http://identifiers.org/clinvar/337992 ^@ NM_001042472.2(ABHD12):c.802G>T (p.Ala268Ser) http://identifiers.org/clinvar/338442 ^@ NM_000457.4(HNF4A):c.*446G>A http://identifiers.org/clinvar/338542 ^@ NM_000308.3(CTSA):c.*266T>A http://identifiers.org/clinvar/338592 ^@ NM_030777.3(SLC2A10):c.625C>T (p.Leu209=) http://identifiers.org/clinvar/339193 ^@ NM_017671.4(FERMT1):c.*902A>G http://identifiers.org/clinvar/339493 ^@ NM_015192.3(PLCB1):c.-1G>C http://identifiers.org/clinvar/339543 ^@ NM_015192.3(PLCB1):c.*1930G>T http://identifiers.org/clinvar/391273 ^@ NM_017617.4(NOTCH1):c.6375C>T (p.His2125=) http://identifiers.org/clinvar/393162 ^@ NM_012330.3(KAT6B):c.355G>C (p.Glu119Gln) http://identifiers.org/clinvar/380008 ^@ NM_213649.1(SFXN4):c.617-3C>T http://identifiers.org/clinvar/392612 ^@ NM_006393.2(NEBL):c.2964C>T (p.Asp988=) http://identifiers.org/clinvar/390323 ^@ NM_016042.3(EXOSC3):c.627-3C>T http://identifiers.org/clinvar/390723 ^@ NM_006258.3(PRKG1):c.906A>C (p.Gly302=) http://identifiers.org/clinvar/382402 ^@ NM_000048.3(ASL):c.291+7C>G http://identifiers.org/clinvar/390373 ^@ NM_020987.4(ANK3):c.6895G>A (p.Ala2299Thr) http://identifiers.org/clinvar/385395 ^@ NM_007078.2(LDB3):c.1521C>T (p.Thr507=) http://identifiers.org/clinvar/386645 ^@ NM_004517.3(ILK):c.12T>A (p.Ile4=) http://identifiers.org/clinvar/379557 ^@ NM_002180.2(IGHMBP2):c.2612-16C>T http://identifiers.org/clinvar/383554 ^@ NM_000051.3(ATM):c.6573-12C>T http://identifiers.org/clinvar/388034 ^@ NM_213599.2(ANO5):c.295-16T>A http://identifiers.org/clinvar/385845 ^@ NM_000834.3(GRIN2B):c.96C>A (p.Pro32=) http://identifiers.org/clinvar/385645 ^@ NM_000719.6(CACNA1C):c.-27T>G http://identifiers.org/clinvar/390223 ^@ NM_000256.3(MYBPC3):c.3168C>T (p.Ala1056=) http://identifiers.org/clinvar/391223 ^@ NM_001130438.2(SPTAN1):c.5508C>T (p.Ser1836=) http://identifiers.org/clinvar/392312 ^@ NM_014384.2(ACAD8):c.473A>G (p.Tyr158Cys) http://identifiers.org/clinvar/381450 ^@ NM_000050.4(ASS1):c.-6+8C>T http://identifiers.org/clinvar/379657 ^@ NM_000372.4(TYR):c.976C>T (p.Gln326Ter) http://identifiers.org/clinvar/380308 ^@ NM_000093.4(COL5A1):c.4586C>A (p.Pro1529His) http://identifiers.org/clinvar/392162 ^@ NM_002180.2(IGHMBP2):c.246C>T (p.Ser82=) http://identifiers.org/clinvar/381800 ^@ NM_024678.5(NARS2):c.513+15G>A http://identifiers.org/clinvar/387984 ^@ NM_052845.3(MMAB):c.624C>T (p.Asn208=) http://identifiers.org/clinvar/386595 ^@ NM_003850.2(SUCLA2):c.36C>G (p.Ala12=) http://identifiers.org/clinvar/379607 ^@ NM_005249.4(FOXG1):c.406G>T (p.Glu136Ter) http://identifiers.org/clinvar/380208 ^@ NM_006231.3(POLE):c.62+15C>T http://identifiers.org/clinvar/391073 ^@ NM_004863.3(SPTLC2):c.1057G>A (p.Gly353Ser) http://identifiers.org/clinvar/390623 ^@ NM_152594.2(SPRED1):c.1176G>A (p.Ser392=) http://identifiers.org/clinvar/382252 ^@ NM_000059.3(BRCA2):c.7086G>A (p.Leu2362=) http://identifiers.org/clinvar/390273 ^@ NM_000051.3(ATM):c.2250+15A>G http://identifiers.org/clinvar/380509 ^@ NM_000137.2(FAH):c.165C>T (p.Leu55=) http://identifiers.org/clinvar/383805 ^@ NM_000051.3(ATM):c.2638+18A>G http://identifiers.org/clinvar/387384 ^@ NM_002474.2(MYH11):c.1401+3A>G http://identifiers.org/clinvar/382201 ^@ NM_001171.5(ABCC6):c.336C>A (p.Leu112=) http://identifiers.org/clinvar/392962 ^@ NM_133647.1(SLC12A6):c.186G>A (p.Glu62=) http://identifiers.org/clinvar/388484 ^@ NM_000138.4(FBN1):c.7929T>C (p.Ser2643=) http://identifiers.org/clinvar/387484 ^@ NM_000548.4(TSC2):c.4549C>A (p.Pro1517Thr) http://identifiers.org/clinvar/381951 ^@ NM_005249.4(FOXG1):c.1203C>T (p.Ser401=) http://identifiers.org/clinvar/382653 ^@ NM_004360.4(CDH1):c.163+14G>T http://identifiers.org/clinvar/387784 ^@ NM_002474.2(MYH11):c.2412-9C>G http://identifiers.org/clinvar/392812 ^@ NM_016239.3(MYO15A):c.2194C>T (p.Pro732Ser) http://identifiers.org/clinvar/47460 ^@ NM_133378.4(TTN):c.79383T>C (p.Leu26461=) http://identifiers.org/clinvar/47510 ^@ NM_001256850.1(TTN):c.86642-13C>T http://identifiers.org/clinvar/47560 ^@ NM_133378.4(TTN):c.87948C>T (p.Thr29316=) http://identifiers.org/clinvar/47610 ^@ NM_133378.4(TTN):c.91208G>A (p.Arg30403His) http://identifiers.org/clinvar/47660 ^@ NM_001256850.1(TTN):c.9571C>G (p.Gln3191Glu) http://identifiers.org/clinvar/47710 ^@ NM_133378.4(TTN):c.98915T>C (p.Ile32972Thr) http://identifiers.org/clinvar/47760 ^@ NM_133379.4(TTN):c.13746A>G (p.Gln4582=) http://identifiers.org/clinvar/47810 ^@ NM_001267550.2(TTN):c.11657delA (p.Asp3886Valfs) http://identifiers.org/clinvar/47860 ^@ NM_138691.2(TMC1):c.1457T>C (p.Met486Thr) http://identifiers.org/clinvar/47910 ^@ NM_144573.3(NEXN):c.732C>A (p.Pro244=) http://identifiers.org/clinvar/47960 ^@ NM_147196.2(TMIE):c.366T>G (p.Asp122Glu) http://identifiers.org/clinvar/48012 ^@ NM_005709.3(USH1C):c.294C>T (p.Leu98=) http://identifiers.org/clinvar/151 ^@ NM_000274.3(OAT):c.278G>T (p.Cys93Phe) http://identifiers.org/clinvar/160 ^@ NM_000274.3(OAT):c.734A>G (p.Tyr245Cys) http://identifiers.org/clinvar/165 ^@ NM_000274.3(OAT):c.425_520del (p.Gly142_Ala173del) http://identifiers.org/clinvar/261 ^@ NM_004628.4(XPC):c.413-24A>G http://identifiers.org/clinvar/413 ^@ RNASET2, 2.5-KB DEL http://identifiers.org/clinvar/504 ^@ NM_001010892.2(RSPH4A):c.325C>T (p.Gln109Ter) http://identifiers.org/clinvar/581 ^@ NM_000277.1(PAH):c.331C>T (p.Arg111Ter) http://identifiers.org/clinvar/622 ^@ NM_000277.1(PAH):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/654 ^@ NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) http://identifiers.org/clinvar/686 ^@ NM_000147.4(FUCA1):c.1160G>A (p.Trp387Ter) http://identifiers.org/clinvar/989 ^@ NM_020800.2(IFT80):c.315C>G (p.His105Gln) http://identifiers.org/clinvar/998 ^@ XPA, IVS1DS, T-G, +2 http://identifiers.org/clinvar/1092 ^@ NM_017791.2(FLVCR2):c.977C>T (p.Ala326Val) http://identifiers.org/clinvar/1101 ^@ AGL, EcoRI FRAGMENT INS http://identifiers.org/clinvar/1110 ^@ NM_025137.3(SPG11):c.529_533delATATT (p.Ile177Serfs) http://identifiers.org/clinvar/1373 ^@ NM_153704.5(TMEM67):c.651+2T>G http://identifiers.org/clinvar/1419 ^@ NM_001041.3(SI):c.3218G>A (p.Gly1073Asp) http://identifiers.org/clinvar/1464 ^@ NM_000190.3(HMBS):c.331G>A (p.Gly111Arg) http://identifiers.org/clinvar/1555 ^@ LPL, -93T-G http://identifiers.org/clinvar/1695 ^@ NM_182548.3(LHFPL5):c.380A>G (p.Tyr127Cys) http://identifiers.org/clinvar/1740 ^@ NM_001017420.2(ESCO2):c.604C>T (p.Gln202Ter) http://identifiers.org/clinvar/1791 ^@ NM_000102.3(CYP17A1):c.278T>G (p.Phe93Cys) http://identifiers.org/clinvar/1836 ^@ MRAP, IVS3, G-T, +1 http://identifiers.org/clinvar/1881 ^@ NM_000255.3(MUT):c.2150G>T (p.Gly717Val) http://identifiers.org/clinvar/1926 ^@ NM_022132.4(MCCC2):c.569A>G (p.His190Arg) http://identifiers.org/clinvar/1971 ^@ NM_000022.3(ADA):c.872C>T (p.Ser291Leu) http://identifiers.org/clinvar/2015 ^@ NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) http://identifiers.org/clinvar/2060 ^@ RDH12, 1-BP DEL, 776G http://identifiers.org/clinvar/205400 ^@ NM_018100.3(EFHC1):c.229C>A (p.Pro77Thr) http://identifiers.org/clinvar/2106 ^@ NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) http://identifiers.org/clinvar/2151 ^@ NM_015384.4(NIPBL):c.-321_-320delCCinsA http://identifiers.org/clinvar/2199 ^@ NM_001145809.1(MYH14):c.1150G>T (p.Gly384Cys) http://identifiers.org/clinvar/2243 ^@ NM_000433.3(NCF2):c.366+1G>A http://identifiers.org/clinvar/2289 ^@ NM_015046.5(SETX):c.1166T>C (p.Leu389Ser) http://identifiers.org/clinvar/2334 ^@ NM_033071.3(SYNE1):c.25237G>A (p.Glu8413Lys) http://identifiers.org/clinvar/2380 ^@ NM_000709.3(BCKDHA):c.745G>A (p.Gly249Ser) http://identifiers.org/clinvar/2425 ^@ CPS1, 1-BP DEL, 1528G http://identifiers.org/clinvar/2470 ^@ NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) http://identifiers.org/clinvar/2516 ^@ NM_000346.3(SOX9):c.462C>G (p.Phe154Leu) http://identifiers.org/clinvar/2564 ^@ NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) http://identifiers.org/clinvar/2656 ^@ NM_198428.2(BBS9):c.1789+1G>A http://identifiers.org/clinvar/10141 ^@ NM_000132.3(F8):c.985T>C (p.Cys329Arg) http://identifiers.org/clinvar/10187 ^@ NM_000132.3(F8):c.832G>A (p.Gly278Arg) http://identifiers.org/clinvar/10231 ^@ NM_000132.3(F8):c.1729T>C (p.Ser577Pro) http://identifiers.org/clinvar/10277 ^@ NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr) http://identifiers.org/clinvar/10321 ^@ NM_000132.3(F8):c.6544C>T (p.Arg2182Cys) http://identifiers.org/clinvar/10369 ^@ NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) http://identifiers.org/clinvar/10419 ^@ G6PD AMSTERDAM http://identifiers.org/clinvar/10467 ^@ NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln) http://identifiers.org/clinvar/10512 ^@ NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys) http://identifiers.org/clinvar/10558 ^@ F9, -20T-A http://identifiers.org/clinvar/10602 ^@ NM_000133.3(F9):c.881G>A (p.Arg294Gln) http://identifiers.org/clinvar/10648 ^@ F9, IVS4, 4442-BP DEL http://identifiers.org/clinvar/10694 ^@ NM_000266.3(NDP):c.328T>G (p.Cys110Gly) http://identifiers.org/clinvar/10739 ^@ NM_000169.2(GLA):c.979C>A (p.Gln327Lys) http://identifiers.org/clinvar/10784 ^@ FRMD7, IVS3DS, T-G, +2 http://identifiers.org/clinvar/10829 ^@ FGD1, 1-BP INS, 528C http://identifiers.org/clinvar/10874 ^@ NM_000284.3(PDHA1):c.937_939delAAG (p.Lys313del) http://identifiers.org/clinvar/10965 ^@ NM_000475.4(NR0B1):c.873G>C (p.Trp291Cys) http://identifiers.org/clinvar/11055 ^@ NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) http://identifiers.org/clinvar/11430 ^@ NM_001129765.1(NSDHL):c.544G>C (p.Ala182Pro) http://identifiers.org/clinvar/11481 ^@ NM_014271.3(IL1RAPL1):c.1460G>A (p.Trp487Ter) http://identifiers.org/clinvar/11532 ^@ NM_003688.3(CASK):c.83G>T (p.Arg28Leu) http://identifiers.org/clinvar/11582 ^@ NM_001363.4(DKC1):c.106T>G (p.Phe36Val) http://identifiers.org/clinvar/12037 ^@ NM_000892.4(KLKB1):c.428G>A (p.Ser143Asn) http://identifiers.org/clinvar/13094 ^@ NM_000321.2(RB1):c.1818T>A (p.Tyr606Ter) http://identifiers.org/clinvar/13144 ^@ NM_000448.2(RAG1):c.1186C>T (p.Arg396Cys) http://identifiers.org/clinvar/13196 ^@ NM_006907.3(PYCR1):c.355C>G (p.Arg119Gly) http://identifiers.org/clinvar/13246 ^@ NM_002739.4(PRKCG):c.383G>A (p.Gly128Asp) http://identifiers.org/clinvar/13297 ^@ NM_000141.4(FGFR2):c.1947_1949delAGA (p.Arg649_Asp650delinsSer) http://identifiers.org/clinvar/13348 ^@ NM_002834.4(PTPN11):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/13402 ^@ NM_000311.4(PRNP):c.650A>G (p.Gln217Arg) http://identifiers.org/clinvar/13453 ^@ NM_000371.3(TTR):c.250T>C (p.Phe84Leu) http://identifiers.org/clinvar/13504 ^@ NM_002693.2(POLG):c.2617G>T (p.Glu873Ter) http://identifiers.org/clinvar/13554 ^@ NM_000212.2(ITGB3):c.433G>T (p.Asp145Tyr) http://identifiers.org/clinvar/36783 ^@ NM_139276.2(STAT3):c.1003C>T (p.Arg335Trp) http://identifiers.org/clinvar/36833 ^@ NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg) http://identifiers.org/clinvar/36883 ^@ NM_000363.4(TNNI3):c.562G>A (p.Val188Met) http://identifiers.org/clinvar/36952 ^@ TERC, 143G-A http://identifiers.org/clinvar/37046 ^@ NM_152424.3(AMER1):c.811C>T (p.Gln271Ter) http://identifiers.org/clinvar/37114 ^@ NM_144605.4(SEPT12):c.266C>T (p.Thr89Met) http://identifiers.org/clinvar/37249 ^@ NM_133497.3(KCNV2):c.226C>T (p.Gln76Ter) http://identifiers.org/clinvar/37324 ^@ STK4, 1-BP DEL, 1103T http://identifiers.org/clinvar/37409 ^@ NM_007294.3(BRCA1):c.1389_1390delAAinsG (p.Thr464Profs) http://identifiers.org/clinvar/37461 ^@ NM_007294.3(BRCA1):c.2299A>G (p.Ser767Gly) http://identifiers.org/clinvar/37516 ^@ NM_007294.3(BRCA1):c.3228_3229delAG (p.Gly1077Alafs) http://identifiers.org/clinvar/37571 ^@ NM_007294.3(BRCA1):c.4127C>G (p.Thr1376Arg) http://identifiers.org/clinvar/37624 ^@ NM_007294.3(BRCA1):c.5035_5039delCTAAT (p.Leu1679Tyrfs) http://identifiers.org/clinvar/37678 ^@ NM_007294.3(BRCA1):c.548-9delA http://identifiers.org/clinvar/37732 ^@ NM_000059.3(BRCA2):c.1253C>A (p.Ser418Ter) http://identifiers.org/clinvar/37784 ^@ NM_000059.3(BRCA2):c.2409T>G (p.Tyr803Ter) http://identifiers.org/clinvar/37837 ^@ NM_000059.3(BRCA2):c.3349A>G (p.Ile1117Val) http://identifiers.org/clinvar/37889 ^@ NM_000059.3(BRCA2):c.4222C>T (p.Gln1408Ter) http://identifiers.org/clinvar/37942 ^@ NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) http://identifiers.org/clinvar/37995 ^@ NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) http://identifiers.org/clinvar/38047 ^@ NM_000059.3(BRCA2):c.6468_6469delTC (p.Gln2157Ilefs) http://identifiers.org/clinvar/38100 ^@ NM_000059.3(BRCA2):c.7499G>C (p.Arg2500Thr) http://identifiers.org/clinvar/38150 ^@ NM_000059.3(BRCA2):c.8300C>G (p.Pro2767Arg) http://identifiers.org/clinvar/38200 ^@ NM_000059.3(BRCA2):c.8972G>A (p.Arg2991His) http://identifiers.org/clinvar/38250 ^@ NM_000059.3(BRCA2):c.9581C>A (p.Pro3194Gln) http://identifiers.org/clinvar/38312 ^@ NM_000168.5(GLI3):c.2197_2198delAC (p.Thr733Argfs) http://identifiers.org/clinvar/40723 ^@ NM_005633.3(SOS1):c.3290G>C (p.Ser1097Thr) http://identifiers.org/clinvar/40825 ^@ NM_030662.3(MAP2K2):c.823C>T (p.Leu275=) http://identifiers.org/clinvar/41000 ^@ NM_000132.3(F8):c.3864A>C (p.Ser1288=) http://identifiers.org/clinvar/41060 ^@ NM_003611.2(OFD1):c.111G>A (p.Lys37=) http://identifiers.org/clinvar/41116 ^@ NM_003611.2(OFD1):c.382-3C>G http://identifiers.org/clinvar/41169 ^@ NM_003977.3(AIP):c.249G>T (p.Gly83=) http://identifiers.org/clinvar/41222 ^@ NM_004562.2(PRKN):c.1180G>A (p.Asp394Asn) http://identifiers.org/clinvar/51384 ^@ NM_000059.3(BRCA2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/51486 ^@ NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs) http://identifiers.org/clinvar/51537 ^@ NM_000059.3(BRCA2):c.3839A>T (p.Asp1280Val) http://identifiers.org/clinvar/51589 ^@ NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) http://identifiers.org/clinvar/51641 ^@ NM_000059.3(BRCA2):c.439C>T (p.Gln147Ter) http://identifiers.org/clinvar/51692 ^@ NM_000059.3(BRCA2):c.4662T>G (p.Ser1554Arg) http://identifiers.org/clinvar/51743 ^@ NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) http://identifiers.org/clinvar/51795 ^@ NM_000059.3(BRCA2):c.516G>A (p.Lys172=) http://identifiers.org/clinvar/51847 ^@ NM_000059.3(BRCA2):c.5355dupT (p.Ser1786Terfs) http://identifiers.org/clinvar/51899 ^@ NM_000059.3(BRCA2):c.5651T>C (p.Ile1884Thr) http://identifiers.org/clinvar/51951 ^@ NM_000059.3(BRCA2):c.5851_5854dupAGTT (p.Leu1952Terfs) http://identifiers.org/clinvar/52003 ^@ NM_000059.3(BRCA2):c.6078_6079delAA (p.Glu2028Argfs) http://identifiers.org/clinvar/52054 ^@ NM_000059.3(BRCA2):c.631+3A>G http://identifiers.org/clinvar/52108 ^@ NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr) http://identifiers.org/clinvar/52159 ^@ NM_000059.3(BRCA2):c.6698C>A (p.Ala2233Asp) http://identifiers.org/clinvar/52209 ^@ NM_000059.3(BRCA2):c.6842-14A>G http://identifiers.org/clinvar/52260 ^@ NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) http://identifiers.org/clinvar/52311 ^@ NM_000059.3(BRCA2):c.733A>T (p.Arg245Ter) http://identifiers.org/clinvar/52361 ^@ NM_000059.3(BRCA2):c.7612A>T (p.Lys2538Ter) http://identifiers.org/clinvar/52412 ^@ NM_000059.3(BRCA2):c.7805+6C>G http://identifiers.org/clinvar/52462 ^@ NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) http://identifiers.org/clinvar/52512 ^@ NM_000059.3(BRCA2):c.8141A>G (p.Gln2714Arg) http://identifiers.org/clinvar/52563 ^@ NM_000059.3(BRCA2):c.8362T>C (p.Trp2788Arg) http://identifiers.org/clinvar/52613 ^@ NM_000059.3(BRCA2):c.8528delA (p.Asn2843Metfs) http://identifiers.org/clinvar/52665 ^@ NM_000059.3(BRCA2):c.8754+111C>T http://identifiers.org/clinvar/52715 ^@ NM_000059.3(BRCA2):c.8962A>G (p.Ser2988Gly) http://identifiers.org/clinvar/52766 ^@ NM_000059.3(BRCA2):c.9172A>G (p.Ser3058Gly) http://identifiers.org/clinvar/52817 ^@ NM_000059.3(BRCA2):c.9344A>G (p.Lys3115Arg) http://identifiers.org/clinvar/52868 ^@ NM_000059.3(BRCA2):c.9562G>A (p.Asp3188Asn) http://identifiers.org/clinvar/53519 ^@ NM_000492.3(CFTR):c.259T>A (p.Phe87Ile) http://identifiers.org/clinvar/53569 ^@ NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) http://identifiers.org/clinvar/53620 ^@ NM_000492.3(CFTR):c.2998delA (p.Ile1000Leufs) http://identifiers.org/clinvar/53671 ^@ NM_000492.3(CFTR):c.3179A>C (p.Lys1060Thr) http://identifiers.org/clinvar/53722 ^@ NM_000492.3(CFTR):c.3353C>T (p.Ser1118Phe) http://identifiers.org/clinvar/53773 ^@ NM_000492.3(CFTR):c.3584A>C (p.Asn1195Thr) http://identifiers.org/clinvar/53825 ^@ NM_000492.3(CFTR):c.3868C>T (p.Pro1290Ser) http://identifiers.org/clinvar/53877 ^@ NM_000492.3(CFTR):c.4039dupA (p.Ser1347Lysfs) http://identifiers.org/clinvar/53928 ^@ NM_000492.3(CFTR):c.4242+10T>C http://identifiers.org/clinvar/53978 ^@ NM_000492.3(CFTR):c.496A>G (p.Lys166Glu) http://identifiers.org/clinvar/54028 ^@ NM_000492.3(CFTR):c.618G>T (p.Leu206Phe) http://identifiers.org/clinvar/54080 ^@ NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) http://identifiers.org/clinvar/54130 ^@ NM_007294.3(BRCA1):c.1106_1108delATG (p.Asp369del) http://identifiers.org/clinvar/54180 ^@ NM_007294.3(BRCA1):c.1262A>G (p.Glu421Gly) http://identifiers.org/clinvar/54230 ^@ NM_007294.3(BRCA1):c.1384G>A (p.Gly462Arg) http://identifiers.org/clinvar/54281 ^@ NM_007294.3(BRCA1):c.1513_1514insT (p.Lys505Ilefs) http://identifiers.org/clinvar/54331 ^@ NM_007294.3(BRCA1):c.1713_1717delAGAAT (p.Glu572Thrfs) http://identifiers.org/clinvar/54382 ^@ NM_007294.3(BRCA1):c.188T>C (p.Leu63Ser) http://identifiers.org/clinvar/54432 ^@ NM_007294.3(BRCA1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/54482 ^@ NM_007294.3(BRCA1):c.2174delG (p.Ser725Thrfs) http://identifiers.org/clinvar/54532 ^@ NM_007294.3(BRCA1):c.2314delG (p.Val772Tyrfs) http://identifiers.org/clinvar/54582 ^@ NM_007294.3(BRCA1):c.2483_2485delGCT (p.Gly828_Phe829delinsVal) http://identifiers.org/clinvar/54632 ^@ NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) http://identifiers.org/clinvar/54682 ^@ NM_007294.3(BRCA1):c.2798_2799delGT (p.Gly933Alafs) http://identifiers.org/clinvar/54732 ^@ NM_007294.3(BRCA1):c.2963C>A (p.Ser988Ter) http://identifiers.org/clinvar/54782 ^@ NM_007294.3(BRCA1):c.3155delA (p.Asn1052Metfs) http://identifiers.org/clinvar/54832 ^@ NM_007294.3(BRCA1):c.3308G>T (p.Cys1103Phe) http://identifiers.org/clinvar/54882 ^@ NM_007294.3(BRCA1):c.342_343delTC (p.Pro115Terfs) http://identifiers.org/clinvar/102544 ^@ NM_000277.1(PAH):c.1175T>C (p.Phe392Ser) http://identifiers.org/clinvar/102596 ^@ NM_000277.1(PAH):c.1355dupA (p.Ter453Valfs) http://identifiers.org/clinvar/102651 ^@ NM_000277.1(PAH):c.329C>T (p.Ser110Leu) http://identifiers.org/clinvar/102702 ^@ NM_000277.1(PAH):c.498C>A (p.Tyr166Ter) http://identifiers.org/clinvar/102752 ^@ NM_000277.1(PAH):c.601C>T (p.His201Tyr) http://identifiers.org/clinvar/102803 ^@ NM_000277.1(PAH):c.721C>T (p.Arg241Cys) http://identifiers.org/clinvar/102853 ^@ NM_000277.1(PAH):c.823C>T (p.Pro275Ser) http://identifiers.org/clinvar/102905 ^@ NM_000277.1(PAH):c.940C>T (p.Pro314Ser) http://identifiers.org/clinvar/102963 ^@ NM_178844.3(NLRC3):c.-341G>T http://identifiers.org/clinvar/103013 ^@ NM_001033053.2(NLRP1):c.*351T>A http://identifiers.org/clinvar/103063 ^@ NM_017852.4(NLRP2):c.2870_2871delGA (p.Arg957Metfs) http://identifiers.org/clinvar/103113 ^@ NM_022162.2(NOD2):c.*80T>C http://identifiers.org/clinvar/103163 ^@ NM_032206.4(NLRC5):c.2477+55C>G http://identifiers.org/clinvar/103213 ^@ NM_134444.4(NLRP4):c.*164T>A http://identifiers.org/clinvar/103263 ^@ NM_144687.3(NLRP12):c.968T>C (p.Leu323Pro) http://identifiers.org/clinvar/103313 ^@ NM_176810.2(NLRP13):c.2619-85C>T http://identifiers.org/clinvar/103363 ^@ NM_178844.3(NLRC3):c.1929-115C>G http://identifiers.org/clinvar/111237 ^@ NM_005534.3(IFNGR2):c.207-80G>A http://identifiers.org/clinvar/120172 ^@ NM_000767.4(CYP2B6):c.329G>T (p.Gly110Val) http://identifiers.org/clinvar/120249 ^@ NM_005633.3(SOS1):c.2138G>A (p.Arg713Gln) http://identifiers.org/clinvar/120299 ^@ NM_001282227.1(ADA2):c.1232A>G (p.Tyr411Cys) http://identifiers.org/clinvar/125525 ^@ NM_007294.3(BRCA1):c.81-20C>T http://identifiers.org/clinvar/125611 ^@ U14680.1:n.331+1G>A,del22 http://identifiers.org/clinvar/125679 ^@ NM_007294.3(BRCA1):c.4111_4112insATCT (p.Gly1371Aspfs) http://identifiers.org/clinvar/125743 ^@ NM_007294.3(BRCA1):c.4987-40G>C http://identifiers.org/clinvar/126665 ^@ NM_024675.3(PALB2):c.2587-37G>C http://identifiers.org/clinvar/126715 ^@ NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) http://identifiers.org/clinvar/126766 ^@ NM_024675.3(PALB2):c.72delG (p.Arg26Glyfs) http://identifiers.org/clinvar/126817 ^@ NM_000321.2(RB1):c.72_74delGCC (p.Pro29del) http://identifiers.org/clinvar/126870 ^@ NM_000610.3(CD44):c.68-13570A>T http://identifiers.org/clinvar/126926 ^@ NM_001127464.2(ZNF469):c.4826G>C (p.Arg1609Pro) http://identifiers.org/clinvar/126976 ^@ NM_000251.2(MSH2):c.874A>T (p.Thr292Ser) http://identifiers.org/clinvar/127147 ^@ NM_005861.3(STUB1):c.367C>G (p.Leu123Val) http://identifiers.org/clinvar/127249 ^@ NM_014171.5(CRIPT):c.133_134insGG (p.Ala45Glyfs) http://identifiers.org/clinvar/127300 ^@ NM_000038.5(APC):c.4900C>G (p.Pro1634Ala) http://identifiers.org/clinvar/127350 ^@ NM_000051.3(ATM):c.2450A>T (p.Asp817Val) http://identifiers.org/clinvar/127400 ^@ NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) http://identifiers.org/clinvar/127450 ^@ NM_000051.3(ATM):c.7788+8G>T http://identifiers.org/clinvar/127501 ^@ NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) http://identifiers.org/clinvar/127551 ^@ NM_000136.2(FANCC):c.974C>T (p.Ala325Val) http://identifiers.org/clinvar/127601 ^@ NM_000179.2(MSH6):c.577T>G (p.Leu193Val) http://identifiers.org/clinvar/127652 ^@ NM_000251.2(MSH2):c.70C>T (p.Gln24Ter) http://identifiers.org/clinvar/127711 ^@ NM_000455.4(STK11):c.970C>T (p.Pro324Ser) http://identifiers.org/clinvar/127761 ^@ NM_000535.6(PMS2):c.1490G>A (p.Gly497Asp) http://identifiers.org/clinvar/127812 ^@ NM_000546.5(TP53):c.472C>T (p.Arg158Cys) http://identifiers.org/clinvar/161066 ^@ GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 http://identifiers.org/clinvar/161667 ^@ NM_013340.3(PCDHB1):c.1655T>C (p.Val552Ala) http://identifiers.org/clinvar/161617 ^@ NM_003664.4(AP3B1):c.1526G>A (p.Arg509Gln) http://identifiers.org/clinvar/161817 ^@ NM_152753.3(SCUBE3):c.2462C>T (p.Pro821Leu) http://identifiers.org/clinvar/161767 ^@ NM_023078.4(PYCR3):c.52C>T (p.Pro18Ser) http://identifiers.org/clinvar/161717 ^@ NM_018430.3(TSNAXIP1):c.1594G>A (p.Ala532Thr) http://identifiers.org/clinvar/161567 ^@ NM_001199866.1(KIF16B):c.1979G>A (p.Arg660His) http://identifiers.org/clinvar/161979 ^@ NM_019022.3(TMX3):c.116G>A (p.Arg39Gln) http://identifiers.org/clinvar/162046 ^@ NM_001281501.1(FADS2):c.142-2713_142-2692del http://identifiers.org/clinvar/162103 ^@ NM_000059.3(BRCA2):c.3291dupT (p.Asn1098Terfs) http://identifiers.org/clinvar/162166 ^@ NC_000006.12:g.30806580G>A http://identifiers.org/clinvar/162378 ^@ NM_152778.2(MFSD8):c.1006G>C (p.Glu336Gln) http://identifiers.org/clinvar/162458 ^@ NM_014305.3(TGDS):c.294T>G (p.Phe98Leu) http://identifiers.org/clinvar/162512 ^@ NM_005360.4(MAF):c.161C>T (p.Ser54Leu) http://identifiers.org/clinvar/162593 ^@ NM_007171.3(POMT1):c.1569_1574dupGCGGGA (p.Glu527_Leu528insArgGlu) http://identifiers.org/clinvar/177937 ^@ NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) http://identifiers.org/clinvar/179446 ^@ NM_031475.2(ESPN):c.1094C>T (p.Pro365Leu) http://identifiers.org/clinvar/179396 ^@ NM_031475.2(ESPN):c.2026A>G (p.Thr676Ala) http://identifiers.org/clinvar/177634 ^@ NM_001001430.2(TNNT2):c.536C>T (p.Ser179Phe) http://identifiers.org/clinvar/179596 ^@ NM_133378.4(TTN):c.97360G>A (p.Glu32454Lys) http://identifiers.org/clinvar/179796 ^@ NM_133378.4(TTN):c.95007C>T (p.Cys31669=) http://identifiers.org/clinvar/179896 ^@ NM_133378.4(TTN):c.88955C>T (p.Thr29652Ile) http://identifiers.org/clinvar/179646 ^@ NM_001256850.1(TTN):c.46816+14C>A http://identifiers.org/clinvar/180096 ^@ NM_133378.4(TTN):c.52298C>T (p.Pro17433Leu) http://identifiers.org/clinvar/179246 ^@ NM_133378.4(TTN):c.17812C>T (p.Arg5938Trp) http://identifiers.org/clinvar/162843 ^@ NM_181426.1(CCDC39):c.1248A>G (p.Glu416=) http://identifiers.org/clinvar/177987 ^@ NM_016203.3(PRKAG2):c.*2C>T http://identifiers.org/clinvar/198433 ^@ NM_000709.3(BCKDHA):c.861_868delAGGCCCCG (p.Gly288Valfs) http://identifiers.org/clinvar/198483 ^@ NM_002633.2(PGM1):c.1103C>T (p.Ala368Val) http://identifiers.org/clinvar/198538 ^@ NM_006037.3(HDAC4):c.681C>T (p.His227=) http://identifiers.org/clinvar/198590 ^@ NM_024426.4(WT1):c.1116T>C (p.Pro372=) http://identifiers.org/clinvar/198641 ^@ NM_022124.5(CDH23):c.10036G>C (p.Glu3346Gln) http://identifiers.org/clinvar/198691 ^@ NM_000070.2(CAPN3):c.1072A>G (p.Asn358Asp) http://identifiers.org/clinvar/198746 ^@ NM_000702.3(ATP1A2):c.836G>A (p.Arg279Gln) http://identifiers.org/clinvar/198798 ^@ NM_004385.4(VCAN):c.6902T>A (p.Phe2301Tyr) http://identifiers.org/clinvar/198852 ^@ NM_012469.3(PRPF6):c.891C>T (p.Leu297=) http://identifiers.org/clinvar/198905 ^@ NM_024079.4(ALG8):c.856T>G (p.Trp286Gly) http://identifiers.org/clinvar/198958 ^@ NM_005529.6(HSPG2):c.11475C>T (p.Ile3825=) http://identifiers.org/clinvar/199010 ^@ NM_000310.3(PPT1):c.810delG (p.Leu271Terfs) http://identifiers.org/clinvar/201369 ^@ NM_001035.2(RYR2):c.568A>G (p.Arg190Gly) http://identifiers.org/clinvar/201426 ^@ NM_198056.2(SCN5A):c.6014C>T (p.Pro2005Leu) http://identifiers.org/clinvar/201597 ^@ NM_198056.2(SCN5A):c.5985C>G (p.Tyr1995Ter) http://identifiers.org/clinvar/201539 ^@ NM_198056.2(SCN5A):c.5482G>A (p.Ala1828Thr) http://identifiers.org/clinvar/201482 ^@ NM_198056.2(SCN5A):c.2859C>G (p.Asp953Glu) http://identifiers.org/clinvar/199886 ^@ NM_004415.3(DSP):c.4492A>G (p.Lys1498Glu) http://identifiers.org/clinvar/201653 ^@ NM_001103.3(ACTN2):c.517A>G (p.Ile173Val) http://identifiers.org/clinvar/201929 ^@ NM_144573.3(NEXN):c.1618A>G (p.Met540Val) http://identifiers.org/clinvar/201710 ^@ NM_001927.3(DES):c.1280A>G (p.Asn427Ser) http://identifiers.org/clinvar/202042 ^@ NM_001134363.2(RBM20):c.674C>T (p.Thr225Ile) http://identifiers.org/clinvar/201872 ^@ NM_032578.3(MYPN):c.3493+11C>T http://identifiers.org/clinvar/202160 ^@ NM_014000.2(VCL):c.1583G>A (p.Arg528His) http://identifiers.org/clinvar/201983 ^@ NM_004572.3(PKP2):c.1378G>C (p.Asp460His) http://identifiers.org/clinvar/201820 ^@ NM_002230.2(JUP):c.989C>A (p.Thr330Asn) http://identifiers.org/clinvar/201764 ^@ NM_001390.4(DTNA):c.*2627G>A http://identifiers.org/clinvar/202100 ^@ NM_000116.4(TAZ):c.526C>T (p.His176Tyr) http://identifiers.org/clinvar/202210 ^@ NM_003900.4(SQSTM1):c.1132A>T (p.Lys378Ter) http://identifiers.org/clinvar/202283 ^@ NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) http://identifiers.org/clinvar/202495 ^@ NM_001256850.1(TTN):c.92127dupA (p.Glu30710Argfs) http://identifiers.org/clinvar/202333 ^@ NM_001256850.1(TTN):c.80315C>A (p.Thr26772Asn) http://identifiers.org/clinvar/232622 ^@ NM_000038.5(APC):c.4440G>A (p.Gln1480=) http://identifiers.org/clinvar/233824 ^@ NM_000038.5(APC):c.5944A>T (p.Lys1982Ter) http://identifiers.org/clinvar/230982 ^@ NM_000038.5(APC):c.7754A>C (p.Lys2585Thr) http://identifiers.org/clinvar/232521 ^@ NM_005732.3(RAD50):c.2502G>C (p.Glu834Asp) http://identifiers.org/clinvar/231132 ^@ NM_005732.3(RAD50):c.2744dupT (p.Leu915Phefs) http://identifiers.org/clinvar/230332 ^@ NM_005732.3(RAD50):c.3514A>T (p.Asn1172Tyr) http://identifiers.org/clinvar/230882 ^@ NM_000535.6(PMS2):c.2260G>A (p.Val754Ile) http://identifiers.org/clinvar/233022 ^@ NM_000535.6(PMS2):c.1630G>A (p.Asp544Asn) http://identifiers.org/clinvar/230282 ^@ NM_000535.6(PMS2):c.1506T>C (p.Asp502=) http://identifiers.org/clinvar/230832 ^@ NM_002485.4(NBN):c.2226T>A (p.Asp742Glu) http://identifiers.org/clinvar/232822 ^@ NM_000051.3(ATM):c.43delC (p.Leu15Terfs) http://identifiers.org/clinvar/232972 ^@ NM_000051.3(ATM):c.1168G>A (p.Glu390Lys) http://identifiers.org/clinvar/230232 ^@ NM_000051.3(ATM):c.3704delC (p.Pro1235Leufs) http://identifiers.org/clinvar/233272 ^@ NM_000051.3(ATM):c.4570C>G (p.Leu1524Val) http://identifiers.org/clinvar/233372 ^@ NM_000051.3(ATM):c.5703G>A (p.Leu1901=) http://identifiers.org/clinvar/230532 ^@ NM_000051.3(ATM):c.6475T>G (p.Cys2159Gly) http://identifiers.org/clinvar/230782 ^@ NM_000051.3(ATM):c.7322T>C (p.Val2441Ala) http://identifiers.org/clinvar/230632 ^@ NM_000051.3(ATM):c.8278C>G (p.Leu2760Val) http://identifiers.org/clinvar/232271 ^@ NM_005591.3(MRE11):c.2058T>G (p.Phe686Leu) http://identifiers.org/clinvar/232571 ^@ NM_005591.3(MRE11):c.1176A>G (p.Pro392=) http://identifiers.org/clinvar/232672 ^@ NM_005591.3(MRE11):c.1107T>C (p.Tyr369=) http://identifiers.org/clinvar/230932 ^@ NM_000059.3(BRCA2):c.413_417delGTCTT (p.Cys138Terfs) http://identifiers.org/clinvar/232221 ^@ NM_000059.3(BRCA2):c.1235C>T (p.Pro412Leu) http://identifiers.org/clinvar/232121 ^@ NM_000059.3(BRCA2):c.1909+3A>G http://identifiers.org/clinvar/230582 ^@ NM_000059.3(BRCA2):c.2641G>T (p.Glu881Ter) http://identifiers.org/clinvar/231082 ^@ NM_000059.3(BRCA2):c.2838T>G (p.Asp946Glu) http://identifiers.org/clinvar/232922 ^@ NM_000059.3(BRCA2):c.5992C>G (p.Gln1998Glu) http://identifiers.org/clinvar/232321 ^@ NM_000059.3(BRCA2):c.6441C>T (p.His2147=) http://identifiers.org/clinvar/233672 ^@ NM_000059.3(BRCA2):c.7341_7342delTA (p.Asn2447Lysfs) http://identifiers.org/clinvar/230732 ^@ NM_000059.3(BRCA2):c.7519C>G (p.Pro2507Ala) http://identifiers.org/clinvar/232722 ^@ NM_024675.3(PALB2):c.3261C>T (p.Ser1087=) http://identifiers.org/clinvar/233122 ^@ NM_024675.3(PALB2):c.2674G>T (p.Glu892Ter) http://identifiers.org/clinvar/232171 ^@ NM_024675.3(PALB2):c.1744T>C (p.Ser582Pro) http://identifiers.org/clinvar/233774 ^@ NM_001042492.2(NF1):c.1621A>G (p.Ile541Val) http://identifiers.org/clinvar/230182 ^@ NM_001042492.2(NF1):c.3417A>G (p.Ala1139=) http://identifiers.org/clinvar/230432 ^@ NM_001042492.2(NF1):c.5329G>A (p.Val1777Ile) http://identifiers.org/clinvar/232872 ^@ NM_001042492.2(NF1):c.5719T>C (p.Phe1907Leu) http://identifiers.org/clinvar/231282 ^@ NM_001042492.2(NF1):c.5959C>G (p.Gln1987Glu) http://identifiers.org/clinvar/232021 ^@ NM_001042492.2(NF1):c.6819+5C>A http://identifiers.org/clinvar/233722 ^@ NM_001042492.2(NF1):c.7313A>G (p.Tyr2438Cys) http://identifiers.org/clinvar/230132 ^@ NM_002878.3(RAD51D):c.634G>C (p.Val212Leu) http://identifiers.org/clinvar/230482 ^@ NM_007294.3(BRCA1):c.4748G>A (p.Arg1583Lys) http://identifiers.org/clinvar/230032 ^@ NM_007294.3(BRCA1):c.3720G>A (p.Gln1240=) http://identifiers.org/clinvar/233875 ^@ NM_007294.3(BRCA1):c.3569C>T (p.Pro1190Leu) http://identifiers.org/clinvar/233222 ^@ NM_032043.2(BRIP1):c.3006G>C (p.Trp1002Cys) http://identifiers.org/clinvar/231332 ^@ NM_032043.2(BRIP1):c.2623G>C (p.Glu875Gln) http://identifiers.org/clinvar/232772 ^@ NM_032043.2(BRIP1):c.1958C>T (p.Ser653Leu) http://identifiers.org/clinvar/231182 ^@ NM_032043.2(BRIP1):c.1473+1G>A http://identifiers.org/clinvar/230682 ^@ NM_032043.2(BRIP1):c.590C>G (p.Ser197Cys) http://identifiers.org/clinvar/230382 ^@ NM_000546.5(TP53):c.946C>A (p.Pro316Thr) http://identifiers.org/clinvar/232071 ^@ NM_007194.3(CHEK2):c.974A>T (p.Lys325Met) http://identifiers.org/clinvar/235039 ^@ NM_001256267.1(MYPN):c.3580C>T (p.Arg1194Cys) http://identifiers.org/clinvar/234988 ^@ NM_024422.4(DSC2):c.82G>T (p.Ala28Ser) http://identifiers.org/clinvar/235089 ^@ NM_005618.3(DLL1):c.1802_1804delACA (p.Asp601_Ile602delinsVal) http://identifiers.org/clinvar/235225 ^@ NC_012920.1:m.9353C>T http://identifiers.org/clinvar/235278 ^@ NM_020964.2(EPG5):c.299C>T (p.Thr100Ile) http://identifiers.org/clinvar/235332 ^@ NM_017651.4(AHI1):c.1152-11T>G http://identifiers.org/clinvar/235385 ^@ NM_182734.2(PLCB1):c.3116T>C (p.Ile1039Thr) http://identifiers.org/clinvar/235440 ^@ NM_001131025.1(PEX5):c.966+3G>A http://identifiers.org/clinvar/235493 ^@ NM_001278716.1(FBXL4):c.1440dupA (p.Leu481Thrfs) http://identifiers.org/clinvar/235546 ^@ NC_012920.1:m.8790G>A http://identifiers.org/clinvar/235597 ^@ NM_000159.3(GCDH):c.271+3G>A http://identifiers.org/clinvar/235648 ^@ NM_207118.2(GTF2H5):c.-35+6T>G http://identifiers.org/clinvar/235703 ^@ NM_018943.2(TUBA8):c.1093G>A (p.Gly365Arg) http://identifiers.org/clinvar/235765 ^@ NM_020247.4(COQ8A):c.989A>G (p.Tyr330Cys) http://identifiers.org/clinvar/235837 ^@ NM_052867.2(NALCN):c.934C>A (p.Leu312Ile) http://identifiers.org/clinvar/235918 ^@ NM_001168272.1(ITPR1):c.6763+5G>T http://identifiers.org/clinvar/236121 ^@ NM_000350.2(ABCA4):c.4739T>C (p.Leu1580Ser) http://identifiers.org/clinvar/236071 ^@ NM_000350.2(ABCA4):c.160T>G (p.Cys54Gly) http://identifiers.org/clinvar/236171 ^@ NM_004621.5(TRPC6):c.1294-23T>A http://identifiers.org/clinvar/236259 ^@ NM_003491.3(NAA10):c.382T>A (p.Phe128Ile) http://identifiers.org/clinvar/236310 ^@ NC_000015.8:g.19359417_30302218del10942802 http://identifiers.org/clinvar/239421 ^@ NM_003000.2(SDHB):c.126delT (p.Phe42Leufs) http://identifiers.org/clinvar/241311 ^@ NM_020919.3(ALS2):c.4498G>A (p.Glu1500Lys) http://identifiers.org/clinvar/241061 ^@ NM_015488.4(PNKD):c.65G>A (p.Arg22Gln) http://identifiers.org/clinvar/241961 ^@ NM_152383.4(DIS3L2):c.1447C>G (p.Arg483Gly) http://identifiers.org/clinvar/241011 ^@ NM_015120.4(ALMS1):c.7673C>T (p.Ser2558Phe) http://identifiers.org/clinvar/241761 ^@ NM_053025.3(MYLK):c.4838-7G>A http://identifiers.org/clinvar/241861 ^@ NM_139076.2(FAM175A):c.87+7C>T http://identifiers.org/clinvar/242211 ^@ NM_198253.2(TERT):c.1138C>T (p.Pro380Ser) http://identifiers.org/clinvar/241111 ^@ NM_016616.4(NME8):c.1400-?_*15+?dup http://identifiers.org/clinvar/241411 ^@ NM_021930.5(RINT1):c.553C>G (p.Pro185Ala) http://identifiers.org/clinvar/261810 ^@ NM_025074.6(FRAS1):c.6924C>T (p.Val2308=) http://identifiers.org/clinvar/262060 ^@ NM_032446.2(MEGF10):c.1114C>T (p.Leu372=) http://identifiers.org/clinvar/258520 ^@ NM_001999.3(FBN2):c.5675-10delT http://identifiers.org/clinvar/261560 ^@ NM_022132.4(MCCC2):c.738+36G>A http://identifiers.org/clinvar/259370 ^@ NM_004385.4(VCAN):c.5750A>T (p.Tyr1917Phe) http://identifiers.org/clinvar/262160 ^@ NM_033071.3(SYNE1):c.12582-12A>G http://identifiers.org/clinvar/262010 ^@ NM_032122.4(DTNBP1):c.355+21G>C http://identifiers.org/clinvar/261110 ^@ NM_019105.6(TNXB):c.11524+46C>T http://identifiers.org/clinvar/261160 ^@ NM_019105.6(TNXB):c.7461C>T (p.Arg2487=) http://identifiers.org/clinvar/262310 ^@ NM_080680.2(COL11A2):c.2682+26A>C http://identifiers.org/clinvar/262410 ^@ NM_138694.3(PKHD1):c.6774A>C (p.Val2258=) http://identifiers.org/clinvar/259320 ^@ NM_004370.5(COL12A1):c.1830T>G (p.Phe610Leu) http://identifiers.org/clinvar/255421 ^@ NM_000168.5(GLI3):c.1357-17C>G http://identifiers.org/clinvar/263099 ^@ NM_194456.1(KRIT1):c.355+29_355+30delTT http://identifiers.org/clinvar/261310 ^@ NM_020476.2(ANK1):c.4385C>T (p.Ala1462Val) http://identifiers.org/clinvar/258770 ^@ NM_002485.4(NBN):c.703-18G>A http://identifiers.org/clinvar/258620 ^@ NM_002316.3(LMX1B):c.1086C>T (p.Ser362=) http://identifiers.org/clinvar/261360 ^@ NM_020822.2(KCNT1):c.1036-15G>A http://identifiers.org/clinvar/262360 ^@ NM_133497.3(KCNV2):c.1497C>T (p.Tyr499=) http://identifiers.org/clinvar/262110 ^@ NM_032844.4(MASTL):c.*29T>C http://identifiers.org/clinvar/262210 ^@ NM_033100.3(CDHR1):c.1662A>G (p.Glu554=) http://identifiers.org/clinvar/261710 ^@ NM_024426.4(WT1):c.198G>T (p.Pro66=) http://identifiers.org/clinvar/258970 ^@ NM_003156.3(STIM1):c.1302G>A (p.Glu434=) http://identifiers.org/clinvar/261760 ^@ NM_024741.2(ZNF408):c.581_592delTGACAGAAGTGG (p.Val194_Val197del) http://identifiers.org/clinvar/259170 ^@ NM_003793.3(CTSF):c.458A>G (p.Gln153Arg) http://identifiers.org/clinvar/258570 ^@ NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) http://identifiers.org/clinvar/261460 ^@ NM_021957.3(GYS2):c.*6A>T http://identifiers.org/clinvar/261410 ^@ NM_021150.3(GRIP1):c.2305C>G (p.Gln769Glu) http://identifiers.org/clinvar/262260 ^@ NM_052867.2(NALCN):c.3570T>C (p.Leu1190=) http://identifiers.org/clinvar/263299 ^@ NM_207361.5(FREM2):c.576G>A (p.Glu192=) http://identifiers.org/clinvar/261610 ^@ NM_022489.3(INF2):c.2630G>A (p.Arg877Gln) http://identifiers.org/clinvar/261960 ^@ NM_031427.3(DNAL1):c.43-4A>G http://identifiers.org/clinvar/259620 ^@ NM_005050.3(ABCD4):c.184T>C (p.Leu62=) http://identifiers.org/clinvar/255371 ^@ NM_000153.3(GALC):c.1670+19A>T http://identifiers.org/clinvar/334907 ^@ NM_004509.3(SP110):c.1038G>C (p.Ser346=) http://identifiers.org/clinvar/332616 ^@ NM_003690.4(PRKRA):c.*180C>T http://identifiers.org/clinvar/332666 ^@ NM_133378.4(TTN):c.*664G>T http://identifiers.org/clinvar/335157 ^@ NM_004544.3(NDUFA10):c.*3141C>T http://identifiers.org/clinvar/332916 ^@ NM_133378.4(TTN):c.17541A>G (p.Gln5847=) http://identifiers.org/clinvar/333266 ^@ NM_007315.3(STAT1):c.1866C>T (p.Asn622=) http://identifiers.org/clinvar/333955 ^@ NM_015040.3(PIKFYVE):c.*1196A>G http://identifiers.org/clinvar/334056 ^@ NM_000384.2(APOB):c.*265G>A http://identifiers.org/clinvar/334257 ^@ NM_173076.2(ABCA12):c.2185T>C (p.Leu729=) http://identifiers.org/clinvar/337403 ^@ NM_004836.6(EIF2AK3):c.2500G>A (p.Ala834Thr) http://identifiers.org/clinvar/337453 ^@ NM_017849.3(TMEM127):c.*2888delT http://identifiers.org/clinvar/334005 ^@ NM_001875.4(CPS1):c.-128G>A http://identifiers.org/clinvar/334457 ^@ NM_001927.3(DES):c.*662G>A http://identifiers.org/clinvar/334307 ^@ NM_015488.4(PNKD):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/334407 ^@ NM_025216.2(WNT10A):c.841C>A (p.Pro281Thr) http://identifiers.org/clinvar/334707 ^@ NM_000092.4(COL4A4):c.4082-8C>T http://identifiers.org/clinvar/334557 ^@ NM_181457.3(PAX3):c.1229A>T (p.Tyr410Phe) http://identifiers.org/clinvar/334607 ^@ NM_003590.4(CUL3):c.*2037delT http://identifiers.org/clinvar/337353 ^@ NM_022912.2(REEP1):c.*2518G>C http://identifiers.org/clinvar/335057 ^@ NM_002242.4(KCNJ13):c.474G>A (p.Ala158=) http://identifiers.org/clinvar/337503 ^@ NM_017849.3(TMEM127):c.472C>G (p.Gln158Glu) http://identifiers.org/clinvar/334757 ^@ NM_000091.4(COL4A3):c.516C>T (p.Asp172=) http://identifiers.org/clinvar/334807 ^@ NM_000091.4(COL4A3):c.*1071G>A http://identifiers.org/clinvar/335207 ^@ NM_004544.3(NDUFA10):c.-93G>T http://identifiers.org/clinvar/343043 ^@ NM_000373.3(UMPS):c.*5014C>T http://identifiers.org/clinvar/334857 ^@ NM_025243.3(SLC19A3):c.*1072A>C http://identifiers.org/clinvar/343093 ^@ NM_002880.3(RAF1):c.*640T>C http://identifiers.org/clinvar/343143 ^@ NM_032638.4(GATA2):c.-42C>G http://identifiers.org/clinvar/334957 ^@ NM_152383.4(DIS3L2):c.*255C>T http://identifiers.org/clinvar/343293 ^@ NM_000539.3(RHO):c.*440C>G http://identifiers.org/clinvar/343493 ^@ NM_024334.2(TMEM43):c.-204T>C http://identifiers.org/clinvar/343543 ^@ NM_024334.2(TMEM43):c.*1770A>G http://identifiers.org/clinvar/343643 ^@ NM_000935.2(PLOD2):c.*37A>G http://identifiers.org/clinvar/343693 ^@ NM_032383.4(HPS3):c.573T>C (p.Val191=) http://identifiers.org/clinvar/343193 ^@ NM_014049.4(ACAD9):c.346+15delC http://identifiers.org/clinvar/344143 ^@ NM_000340.1(SLC2A2):c.*909C>T http://identifiers.org/clinvar/350712 ^@ NM_032446.2(MEGF10):c.*3461A>G http://identifiers.org/clinvar/350762 ^@ NM_001999.3(FBN2):c.7897G>A (p.Gly2633Ser) http://identifiers.org/clinvar/350812 ^@ NM_003060.3(SLC22A5):c.522C>T (p.Phe174=) http://identifiers.org/clinvar/350862 ^@ NM_014402.4(UQCRQ):c.*1175delG http://identifiers.org/clinvar/350912 ^@ NM_001369.2(DNAH5):c.*649G>C http://identifiers.org/clinvar/351012 ^@ NM_001369.2(DNAH5):c.12631G>A (p.Glu4211Lys) http://identifiers.org/clinvar/357988 ^@ NM_004999.3(MYO6):c.262-12T>G http://identifiers.org/clinvar/358188 ^@ NM_183050.3(BCKDHB):c.*731C>T http://identifiers.org/clinvar/351062 ^@ NM_001369.2(DNAH5):c.7449G>A (p.Leu2483=) http://identifiers.org/clinvar/358488 ^@ NM_006348.3(COG5):c.-367C>G http://identifiers.org/clinvar/351362 ^@ NM_001018077.1(NR3C1):c.*36G>A http://identifiers.org/clinvar/351412 ^@ NM_054027.4(ANKH):c.*4624A>C http://identifiers.org/clinvar/358588 ^@ NM_000108.4(DLD):c.*1451T>C http://identifiers.org/clinvar/351262 ^@ NM_005219.4(DIAPH1):c.*1444T>G http://identifiers.org/clinvar/351462 ^@ NM_054027.4(ANKH):c.*1711C>A http://identifiers.org/clinvar/358688 ^@ NM_001127500.2(MET):c.1965+11T>G http://identifiers.org/clinvar/351512 ^@ NM_054027.4(ANKH):c.963A>G (p.Ala321=) http://identifiers.org/clinvar/351562 ^@ NM_024577.3(SH3TC2):c.*22553dupA http://identifiers.org/clinvar/358938 ^@ NM_018718.2(CEP41):c.*277A>G http://identifiers.org/clinvar/351612 ^@ NM_024577.3(SH3TC2):c.*18299C>T http://identifiers.org/clinvar/356099 ^@ NM_000367.4(TPMT):c.*1218G>A http://identifiers.org/clinvar/356149 ^@ NM_001080.3(ALDH5A1):c.*472C>T http://identifiers.org/clinvar/356549 ^@ NM_182548.3(LHFPL5):c.*790A>G http://identifiers.org/clinvar/356599 ^@ NM_005943.5(MOCS1):c.*2396C>T http://identifiers.org/clinvar/356749 ^@ NM_000322.4(PRPH2):c.*1375C>T http://identifiers.org/clinvar/356799 ^@ NM_000287.3(PEX6):c.1234-11A>G http://identifiers.org/clinvar/356849 ^@ NM_014780.4(CUL7):c.1265G>T (p.Trp422Leu) http://identifiers.org/clinvar/356899 ^@ NM_006502.2(POLH):c.491-4T>G http://identifiers.org/clinvar/356999 ^@ NM_006502.2(POLH):c.*4624G>A http://identifiers.org/clinvar/357049 ^@ NM_020745.3(AARS2):c.*343G>A http://identifiers.org/clinvar/357099 ^@ NM_001024630.3(RUNX2):c.*304G>A http://identifiers.org/clinvar/353209 ^@ NM_004168.3(SDHA):c.*189C>T http://identifiers.org/clinvar/353259 ^@ NM_002185.3(IL7R):c.83-2A>T http://identifiers.org/clinvar/353309 ^@ NM_004172.4(SLC1A3):c.212A>G (p.Tyr71Cys) http://identifiers.org/clinvar/361127 ^@ NM_015713.4(RRM2B):c.*3489A>G http://identifiers.org/clinvar/353409 ^@ NM_023073.3(C5orf42):c.*441A>C http://identifiers.org/clinvar/361277 ^@ NM_178857.5(RP1L1):c.4482A>G (p.Gln1494=) http://identifiers.org/clinvar/357838 ^@ NM_014989.5(RIMS1):c.1382C>T (p.Ala461Val) http://identifiers.org/clinvar/361478 ^@ NM_001715.2(BLK):c.311G>T (p.Arg104Ile) http://identifiers.org/clinvar/353459 ^@ NM_023073.3(C5orf42):c.1872C>T (p.Ser624=) http://identifiers.org/clinvar/353859 ^@ NM_002203.3(ITGA2):c.*3889A>G http://identifiers.org/clinvar/358138 ^@ NM_022726.3(ELOVL4):c.*360A>G http://identifiers.org/clinvar/363776 ^@ NM_000318.2(PEX2):c.*2430T>C http://identifiers.org/clinvar/363876 ^@ NM_019098.4(CNGB3):c.886_896delACTTCTACAAAinsT (p.Thr296Tyrfs) http://identifiers.org/clinvar/363826 ^@ NM_000318.2(PEX2):c.-367A>G http://identifiers.org/clinvar/299879 ^@ NM_021252.4(RAB18):c.*3803_*3804insT http://identifiers.org/clinvar/363976 ^@ NM_018444.3(PDP1):c.*1961G>C http://identifiers.org/clinvar/306383 ^@ NM_012193.3(FZD4):c.*1695A>C http://identifiers.org/clinvar/306483 ^@ NM_005591.3(MRE11):c.*511G>A http://identifiers.org/clinvar/306533 ^@ NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) http://identifiers.org/clinvar/300129 ^@ NM_000242.2(MBL2):c.*1429A>C http://identifiers.org/clinvar/301868 ^@ NM_030962.3(SBF2):c.946C>T (p.Leu316=) http://identifiers.org/clinvar/300179 ^@ NM_033056.3(PCDH15):c.3782A>C (p.Glu1261Ala) http://identifiers.org/clinvar/306883 ^@ NM_000618.4(IGF1):c.*2377dupA http://identifiers.org/clinvar/300429 ^@ NM_022124.5(CDH23):c.4103C>T (p.Thr1368Met) http://identifiers.org/clinvar/307872 ^@ NM_172364.4(CACNA2D4):c.227+11C>T http://identifiers.org/clinvar/307972 ^@ NM_000719.6(CACNA1C):c.-233C>T http://identifiers.org/clinvar/307922 ^@ NM_019844.3(SLCO1B3):c.*399A>G http://identifiers.org/clinvar/308272 ^@ NM_000719.6(CACNA1C):c.*6533T>C http://identifiers.org/clinvar/308422 ^@ NM_012062.4(DNM1L):c.*1338C>T http://identifiers.org/clinvar/308472 ^@ NM_004572.3(PKP2):c.*1246C>T http://identifiers.org/clinvar/301318 ^@ NM_001012720.1(RGR):c.259G>A (p.Gly87Ser) http://identifiers.org/clinvar/308672 ^@ NM_198578.3(LRRK2):c.*1140A>T http://identifiers.org/clinvar/301368 ^@ NM_004329.2(BMPR1A):c.*1224A>G http://identifiers.org/clinvar/301618 ^@ NM_006204.3(PDE6C):c.316G>A (p.Gly106Ser) http://identifiers.org/clinvar/301718 ^@ NM_016341.3(PLCE1):c.4165G>A (p.Glu1389Lys) http://identifiers.org/clinvar/301818 ^@ NM_138413.3(HOGA1):c.*498G>A http://identifiers.org/clinvar/309422 ^@ NM_014191.3(SCN8A):c.*4281_*4282delTC http://identifiers.org/clinvar/302068 ^@ NM_001080463.1(DYNC2H1):c.8311+10A>G http://identifiers.org/clinvar/302118 ^@ NM_001080463.1(DYNC2H1):c.12275G>A (p.Arg4092His) http://identifiers.org/clinvar/302318 ^@ NM_002906.3(RDX):c.*1284_*1289dupGTGTGT http://identifiers.org/clinvar/302468 ^@ NM_001931.4(DLAT):c.*246A>G http://identifiers.org/clinvar/366926 ^@ NM_001042413.1(GLIS3):c.*1827T>G http://identifiers.org/clinvar/367076 ^@ NM_004170.5(SLC1A1):c.*726G>A http://identifiers.org/clinvar/314255 ^@ NM_000428.2(LTBP2):c.*743G>A http://identifiers.org/clinvar/314305 ^@ NM_000428.2(LTBP2):c.1796C>T (p.Pro599Leu) http://identifiers.org/clinvar/321890 ^@ NM_006445.3(PRPF8):c.3729C>T (p.Arg1243=) http://identifiers.org/clinvar/322140 ^@ NM_016239.3(MYO15A):c.4142+6T>C http://identifiers.org/clinvar/322390 ^@ NM_080669.5(SLC46A1):c.*1076G>A http://identifiers.org/clinvar/313105 ^@ NM_020529.2(NFKBIA):c.*126G>A http://identifiers.org/clinvar/313155 ^@ NM_006194.3(PAX9):c.-455C>G http://identifiers.org/clinvar/313305 ^@ NM_015915.4(ATL1):c.1173C>T (p.His391=) http://identifiers.org/clinvar/313405 ^@ NM_000161.2(GCH1):c.-125A>C http://identifiers.org/clinvar/313455 ^@ NM_005982.3(SIX1):c.*578_*581delTTTA http://identifiers.org/clinvar/313505 ^@ NM_182914.2(SYNE2):c.3971C>T (p.Ala1324Val) http://identifiers.org/clinvar/313605 ^@ NM_182914.2(SYNE2):c.15218A>G (p.Asn5073Ser) http://identifiers.org/clinvar/313655 ^@ NM_182914.2(SYNE2):c.19938C>T (p.Thr6646=) http://identifiers.org/clinvar/313755 ^@ NM_000347.5(SPTB):c.1896A>G (p.Gln632=) http://identifiers.org/clinvar/315694 ^@ NM_005159.4(ACTC1):c.*388G>A http://identifiers.org/clinvar/313905 ^@ NM_015346.3(ZFYVE26):c.3757C>T (p.Leu1253=) http://identifiers.org/clinvar/315844 ^@ NM_144508.4(KNL1):c.812C>G (p.Thr271Ser) http://identifiers.org/clinvar/313955 ^@ NM_000021.3(PSEN1):c.*360A>C http://identifiers.org/clinvar/323779 ^@ NM_001193466.1(KANSL1):c.1676A>G (p.His559Arg) http://identifiers.org/clinvar/315994 ^@ NM_173500.3(TTBK2):c.1360C>T (p.Arg454Cys) http://identifiers.org/clinvar/316044 ^@ NM_201631.3(TGM5):c.1471C>T (p.Pro491Ser) http://identifiers.org/clinvar/323979 ^@ NM_000080.3(CHRNE):c.1289T>G (p.Val430Gly) http://identifiers.org/clinvar/314355 ^@ NM_001040108.1(MLH3):c.*1896A>G http://identifiers.org/clinvar/324029 ^@ NM_005220.2(DLX3):c.-131C>G http://identifiers.org/clinvar/314405 ^@ NM_017791.2(FLVCR2):c.-111T>C http://identifiers.org/clinvar/324236 ^@ NM_000717.4(CA4):c.744+3G>A http://identifiers.org/clinvar/368544 ^@ NM_006306.3(SMC1A):c.*5481G>A http://identifiers.org/clinvar/324538 ^@ NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) http://identifiers.org/clinvar/315044 ^@ NM_177438.2(DICER1):c.*4039G>A http://identifiers.org/clinvar/315394 ^@ NM_144599.4(NIPA1):c.*1846dupA http://identifiers.org/clinvar/315494 ^@ NM_002420.5(TRPM1):c.4242C>A (p.Pro1414=) http://identifiers.org/clinvar/315194 ^@ NM_139057.3(ADAMTS17):c.*1218T>C http://identifiers.org/clinvar/315744 ^@ NM_152594.2(SPRED1):c.*592_*595dupATAT http://identifiers.org/clinvar/372099 ^@ NM_020975.4(RET):c.3040-11C>G http://identifiers.org/clinvar/372049 ^@ NM_006231.3(POLE):c.3275+12_3275+37dup26 http://identifiers.org/clinvar/371899 ^@ NM_007294.3(BRCA1):c.-20+55G>A http://identifiers.org/clinvar/371949 ^@ NM_000546.5(TP53):c.74+9A>C http://identifiers.org/clinvar/371999 ^@ NM_001256849.1(POLD1):c.1686+11G>A http://identifiers.org/clinvar/371849 ^@ NM_007194.3(CHEK2):c.1095+19G>A http://identifiers.org/clinvar/372161 ^@ NM_003412.3(ZIC1):c.1163C>A (p.Ser388Ter) http://identifiers.org/clinvar/372228 ^@ NM_207421.4(PADI6):c.1141C>T (p.Gln381Ter) http://identifiers.org/clinvar/372282 ^@ NM_024854.3(PYROXD1):c.1160_1163dupCAAA (p.Lys388Asnfs) http://identifiers.org/clinvar/372903 ^@ NM_001165963.1(SCN1A):c.4280A>T (p.Gln1427Leu) http://identifiers.org/clinvar/372852 ^@ NM_018297.3(NGLY1):c.1150-1G>C http://identifiers.org/clinvar/372335 ^@ NM_000094.3(COL7A1):c.4767delA (p.Asp1590Thrfs) http://identifiers.org/clinvar/372699 ^@ NM_178012.4(TUBB2B):c.55A>C (p.Lys19Gln) http://identifiers.org/clinvar/372749 ^@ NM_000260.3(MYO7A):c.4074delC (p.Glu1359Argfs) http://identifiers.org/clinvar/372492 ^@ NM_024570.3(RNASEH2B):c.245-8A>G http://identifiers.org/clinvar/372595 ^@ NM_130838.1(UBE3A):c.1420A>G (p.Asn474Asp) http://identifiers.org/clinvar/373005 ^@ NM_000267.3(NF1):c.1591C>T (p.Gln531Ter) http://identifiers.org/clinvar/372955 ^@ NM_002474.2(MYH11):c.2297G>A (p.Ser766Asn) http://identifiers.org/clinvar/372799 ^@ NM_152296.4(ATP1A3):c.2116G>A (p.Gly706Arg) http://identifiers.org/clinvar/372646 ^@ NM_000444.5(PHEX):c.1313T>C (p.Leu438Ser) http://identifiers.org/clinvar/372436 ^@ NM_000475.4(NR0B1):c.580delG (p.Ala194Argfs) http://identifiers.org/clinvar/372385 ^@ NM_003639.4(IKBKG):c.672-2A>G http://identifiers.org/clinvar/372545 ^@ NM_000377.2(WAS):c.559+5G>A http://identifiers.org/clinvar/374489 ^@ NM_007215.3(POLG2):c.319C>A (p.Arg107=) http://identifiers.org/clinvar/374539 ^@ NM_000051.3(ATM):c.751G>A (p.Val251Met) http://identifiers.org/clinvar/374589 ^@ NM_020919.3(ALS2):c.4451G>A (p.Arg1484Gln) http://identifiers.org/clinvar/374639 ^@ NM_004006.2(DMD):c.5601A>C (p.Gln1867His) http://identifiers.org/clinvar/374689 ^@ NM_030973.3(MED25):c.769C>G (p.Leu257Val) http://identifiers.org/clinvar/374739 ^@ NM_003322.5(TULP1):c.1333G>A (p.Gly445Ser) http://identifiers.org/clinvar/374799 ^@ NM_005188.3(CBL):c.1945A>G (p.Met649Val) http://identifiers.org/clinvar/374849 ^@ NM_004644.4(AP3B2):c.2522_2525delTCAC (p.Leu841Glnfs) http://identifiers.org/clinvar/374904 ^@ NM_022068.3(PIEZO2):c.3020_3030delCTGAGAACTTC (p.Pro1007Leufs) http://identifiers.org/clinvar/374966 ^@ NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) http://identifiers.org/clinvar/375238 ^@ NM_003060.3(SLC22A5):c.1188T>G (p.Tyr396Ter) http://identifiers.org/clinvar/375297 ^@ NM_001162426.1(TSC1):c.2266G>T (p.Glu756Ter) http://identifiers.org/clinvar/375352 ^@ NM_000520.5(HEXA):c.460-1G>A http://identifiers.org/clinvar/375403 ^@ NM_203290.3(POLR1C):c.614delG (p.Gly205Alafs) http://identifiers.org/clinvar/375463 ^@ NM_022124.5(CDH23):c.478G>A (p.Asp160Asn) http://identifiers.org/clinvar/375526 ^@ NM_020822.2(KCNT1):c.2839A>G (p.Lys947Glu) http://identifiers.org/clinvar/375585 ^@ NM_001042537.1(SLC9A6):c.882delT (p.Ala295Profs) http://identifiers.org/clinvar/375643 ^@ NM_016483.6(PHF7):c.583C>T (p.His195Tyr) http://identifiers.org/clinvar/375788 ^@ NM_000527.4(LDLR):c.664_681del18 (p.Cys222_Asp227del) http://identifiers.org/clinvar/375838 ^@ NM_000527.4(LDLR):c.2346G>C (p.Lys782Asn) http://identifiers.org/clinvar/375891 ^@ NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys) http://identifiers.org/clinvar/392523 ^@ NM_015120.4(ALMS1):c.7016C>A (p.Thr2339Lys) http://identifiers.org/clinvar/392773 ^@ NM_024334.2(TMEM43):c.882+3G>A http://identifiers.org/clinvar/389484 ^@ NM_017875.2(SLC25A38):c.18T>G (p.Arg6=) http://identifiers.org/clinvar/385256 ^@ NM_000249.3(MLH1):c.545+10A>C http://identifiers.org/clinvar/389584 ^@ NM_001148.4(ANK2):c.1153T>C (p.Leu385=) http://identifiers.org/clinvar/380911 ^@ NM_024582.4(FAT4):c.14914C>T (p.Pro4972Ser) http://identifiers.org/clinvar/386295 ^@ NM_006005.3(WFS1):c.129A>T (p.Ala43=) http://identifiers.org/clinvar/385106 ^@ NM_005051.2(QARS):c.632-20C>T http://identifiers.org/clinvar/383304 ^@ NM_005051.2(QARS):c.451+19G>A http://identifiers.org/clinvar/384355 ^@ NM_001059.2(TACR3):c.534C>T (p.Ala178=) http://identifiers.org/clinvar/382853 ^@ NM_000038.5(APC):c.3897T>A (p.Ala1299=) http://identifiers.org/clinvar/392073 ^@ NM_000337.5(SGCD):c.594G>T (p.Arg198=) http://identifiers.org/clinvar/381211 ^@ NM_014244.4(ADAMTS2):c.1488C>T (p.Phe496=) http://identifiers.org/clinvar/389834 ^@ NM_014244.4(ADAMTS2):c.1083T>C (p.Asp361=) http://identifiers.org/clinvar/384105 ^@ NM_001683.3(ATP2B2):c.1492G>A (p.Ala498Thr) http://identifiers.org/clinvar/380760 ^@ NM_001999.3(FBN2):c.5548+20T>C http://identifiers.org/clinvar/381912 ^@ NM_003242.5(TGFBR2):c.1464G>A (p.Lys488=) http://identifiers.org/clinvar/387095 ^@ NM_033071.3(SYNE1):c.9563G>A (p.Ser3188Asn) http://identifiers.org/clinvar/381461 ^@ NM_001167734.1(VARS2):c.2668C>T (p.Leu890=) http://identifiers.org/clinvar/383003 ^@ NM_000094.3(COL7A1):c.4120-20T>C http://identifiers.org/clinvar/391973 ^@ NM_001458.4(FLNC):c.469C>G (p.Arg157Gly) http://identifiers.org/clinvar/380810 ^@ NM_018341.2(ERMARD):c.274A>G (p.Ile92Val) http://identifiers.org/clinvar/381511 ^@ NM_000232.4(SGCB):c.-16C>G http://identifiers.org/clinvar/382953 ^@ NM_006348.3(COG5):c.386-18A>G http://identifiers.org/clinvar/384305 ^@ NM_002291.2(LAMB1):c.4236C>T (p.Gly1412=) http://identifiers.org/clinvar/386795 ^@ NM_005506.3(SCARB2):c.704+17A>G http://identifiers.org/clinvar/384505 ^@ NM_014208.3(DSPP):c.52-1G>C http://identifiers.org/clinvar/384205 ^@ NM_183050.3(BCKDHB):c.477+14C>T http://identifiers.org/clinvar/382012 ^@ NM_005751.4(AKAP9):c.5505A>G (p.Ile1835Met) http://identifiers.org/clinvar/387595 ^@ NM_000127.2(EXT1):c.1279C>G (p.Leu427Val) http://identifiers.org/clinvar/387795 ^@ NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) http://identifiers.org/clinvar/392173 ^@ NM_004519.3(KCNQ3):c.478-16A>T http://identifiers.org/clinvar/392023 ^@ NM_004408.3(DNM1):c.162-17C>T http://identifiers.org/clinvar/384956 ^@ NM_018941.3(CLN8):c.-113G>T http://identifiers.org/clinvar/384856 ^@ NM_024790.6(CSPP1):c.1245G>C (p.Ala415=) http://identifiers.org/clinvar/387395 ^@ NM_002290.4(LAMA4):c.4090A>C (p.Ile1364Leu) http://identifiers.org/clinvar/388934 ^@ NM_020822.2(KCNT1):c.1992C>T (p.Ser664=) http://identifiers.org/clinvar/389334 ^@ NM_020822.2(KCNT1):c.2008+7C>T http://identifiers.org/clinvar/381261 ^@ NM_003165.3(STXBP1):c.531G>A (p.Ala177=) http://identifiers.org/clinvar/389184 ^@ NM_016035.4(COQ4):c.168C>T (p.Ser56=) http://identifiers.org/clinvar/387945 ^@ NM_201590.2(CACNB2):c.642+601A>G http://identifiers.org/clinvar/133479 ^@ NM_004304.4(ALK):c.4255G>A (p.Glu1419Lys) http://identifiers.org/clinvar/133530 ^@ NM_000038.5(APC):c.4420G>A (p.Ala1474Thr) http://identifiers.org/clinvar/133834 ^@ NM_001783.3(CD79A):c.371G>A (p.Arg124His) http://identifiers.org/clinvar/133884 ^@ NM_058197.4(CDKN2A):c.170C>T (p.Ala57Val) http://identifiers.org/clinvar/133934 ^@ NM_004380.2(CREBBP):c.895A>G (p.Ser299Gly) http://identifiers.org/clinvar/133984 ^@ NM_153759.3(DNMT3A):c.235G>A (p.Asp79Asn) http://identifiers.org/clinvar/134034 ^@ NM_201284.1(EGFR):c.2108C>T (p.Ser703Phe) http://identifiers.org/clinvar/134086 ^@ NM_001005862.2(ERBB2):c.3599G>T (p.Arg1200Leu) http://identifiers.org/clinvar/134136 ^@ NM_005236.2(ERCC4):c.2477C>T (p.Ala826Val) http://identifiers.org/clinvar/134186 ^@ NM_000123.3(ERCC5):c.1802A>G (p.Glu601Gly) http://identifiers.org/clinvar/134236 ^@ NM_000135.2(FANCA):c.24C>G (p.Asn8Lys) http://identifiers.org/clinvar/134287 ^@ NM_000135.2(FANCA):c.542C>T (p.Ala181Val) http://identifiers.org/clinvar/134337 ^@ NM_021922.2(FANCE):c.1074dupC (p.Asn359Glnfs) http://identifiers.org/clinvar/134388 ^@ NM_000141.4(FGFR2):c.23T>G (p.Ile8Ser) http://identifiers.org/clinvar/134438 ^@ NM_004119.2(FLT3):c.2888C>T (p.Ser963Leu) http://identifiers.org/clinvar/134488 ^@ NM_016592.3(GNAS):c.345_356delCGAGTCCGAAAT (p.Ile119_Glu122del) http://identifiers.org/clinvar/134538 ^@ NM_002185.3(IL7R):c.1092T>G (p.Asp364Glu) http://identifiers.org/clinvar/134588 ^@ NM_004187.3(KDM5C):c.2705A>G (p.Gln902Arg) http://identifiers.org/clinvar/134639 ^@ NM_005120.2(MED12):c.1313G>A (p.Arg438His) http://identifiers.org/clinvar/134690 ^@ NM_003482.3(KMT2D):c.6812C>T (p.Pro2271Leu) http://identifiers.org/clinvar/134741 ^@ NM_170606.2(KMT2C):c.1700A>G (p.Asn567Ser) http://identifiers.org/clinvar/134791 ^@ NM_170606.2(KMT2C):c.10928C>T (p.Thr3643Ile) http://identifiers.org/clinvar/134842 ^@ NM_000251.2(MSH2):c.1631T>C (p.Ile544Thr) http://identifiers.org/clinvar/134895 ^@ NM_000268.3(NF2):c.1007G>A (p.Arg336Gln) http://identifiers.org/clinvar/134945 ^@ NM_017617.4(NOTCH1):c.7648A>G (p.Ile2550Val) http://identifiers.org/clinvar/134995 ^@ NM_024675.3(PALB2):c.2456A>G (p.Lys819Arg) http://identifiers.org/clinvar/135045 ^@ NM_000534.4(PMS1):c.575A>G (p.His192Arg) http://identifiers.org/clinvar/135096 ^@ NM_000264.3(PTCH1):c.2558A>G (p.Gln853Arg) http://identifiers.org/clinvar/135147 ^@ NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) http://identifiers.org/clinvar/135228 ^@ NM_014159.6(SETD2):c.2302G>C (p.Val768Leu) http://identifiers.org/clinvar/135279 ^@ NM_016169.3(SUFU):c.518G>A (p.Arg173Lys) http://identifiers.org/clinvar/135329 ^@ NM_017628.4(TET2):c.3424T>A (p.Cys1142Ser) http://identifiers.org/clinvar/135379 ^@ NM_000548.4(TSC2):c.846C>A (p.Asp282Glu) http://identifiers.org/clinvar/135430 ^@ NM_000553.4(WRN):c.3251C>T (p.Ser1084Leu) http://identifiers.org/clinvar/185380 ^@ NM_002878.3(RAD51D):c.108G>A (p.Leu36=) http://identifiers.org/clinvar/184730 ^@ NM_007294.3(BRCA1):c.5562G>A (p.Leu1854=) http://identifiers.org/clinvar/187571 ^@ NM_007294.3(BRCA1):c.5259A>G (p.Arg1753=) http://identifiers.org/clinvar/184980 ^@ NM_007294.3(BRCA1):c.4710C>T (p.Leu1570=) http://identifiers.org/clinvar/185580 ^@ NM_007294.3(BRCA1):c.4319A>G (p.Glu1440Gly) http://identifiers.org/clinvar/184630 ^@ NM_007294.3(BRCA1):c.3688T>C (p.Leu1230=) http://identifiers.org/clinvar/187671 ^@ NM_007294.3(BRCA1):c.2050C>A (p.Pro684Thr) http://identifiers.org/clinvar/187421 ^@ NM_007294.3(BRCA1):c.811G>T (p.Val271Leu) http://identifiers.org/clinvar/187171 ^@ NM_007294.3(BRCA1):c.212+1delG http://identifiers.org/clinvar/184780 ^@ NM_007194.3(CHEK2):c.1344T>C (p.Ile448=) http://identifiers.org/clinvar/187775 ^@ NM_052867.2(NALCN):c.1733A>C (p.Tyr578Ser) http://identifiers.org/clinvar/187847 ^@ NM_058163.2(TSR2):c.191A>G (p.Glu64Gly) http://identifiers.org/clinvar/187904 ^@ NM_005957.4(MTHFR):c.1808C>G (p.Ser603Cys) http://identifiers.org/clinvar/188054 ^@ NM_004608.3(TBX6):c.1250dupT (p.Leu419Serfs) http://identifiers.org/clinvar/188261 ^@ NM_000179.2(MSH6):c.3711G>C (p.Glu1237Asp) http://identifiers.org/clinvar/188207 ^@ NM_000038.5(APC):c.2716T>G (p.Ser906Ala) http://identifiers.org/clinvar/188366 ^@ NM_001369.2(DNAH5):c.9218A>G (p.Tyr3073Cys) http://identifiers.org/clinvar/188105 ^@ NM_000059.3(BRCA2):c.9160C>T (p.Pro3054Ser) http://identifiers.org/clinvar/188312 ^@ NM_000267.3(NF1):c.3494T>A (p.Ile1165Lys) http://identifiers.org/clinvar/188156 ^@ NM_003611.2(OFD1):c.1294A>G (p.Lys432Glu) http://identifiers.org/clinvar/189115 ^@ NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) http://identifiers.org/clinvar/189165 ^@ NM_000466.2(PEX1):c.1501_1502delCT (p.Leu501Glufs) http://identifiers.org/clinvar/189065 ^@ NM_000152.4(GAA):c.655G>A (p.Gly219Arg) http://identifiers.org/clinvar/189231 ^@ NM_005682.6(ADGRG1):c.10C>T (p.Gln4Ter) http://identifiers.org/clinvar/189283 ^@ NM_014795.3(ZEB2):c.460delG (p.Glu154Argfs) http://identifiers.org/clinvar/189342 ^@ NM_177405.2(ADA2):c.355A>G (p.Thr119Ala) http://identifiers.org/clinvar/189433 ^@ NM_000314.6(PTEN):c.-1195_-1184delAAGCCGCAGCAA http://identifiers.org/clinvar/189495 ^@ NM_000314.6(PTEN):c.-868G>T http://identifiers.org/clinvar/189705 ^@ NM_004992.3(MECP2):c.(?_378)_(1185_?)del (p.(?)) http://identifiers.org/clinvar/189755 ^@ NM_004992.3(MECP2):c.1163_1216del54 (p.Pro388_Pro405del) http://identifiers.org/clinvar/189655 ^@ NM_004992.3(MECP2):c.1128_1179del52 (p.Lys377Argfs) http://identifiers.org/clinvar/189605 ^@ NM_003159.2(CDKL5):c.679_691delCTAGGACCACTTCinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) http://identifiers.org/clinvar/189555 ^@ NM_003159.2(CDKL5):c.1341delC (p.Phe447Leufs) http://identifiers.org/clinvar/227891 ^@ NM_001134363.2(RBM20):c.1612C>T (p.Leu538=) http://identifiers.org/clinvar/227840 ^@ NM_033056.3(PCDH15):c.4463A>G (p.Asn1488Ser) http://identifiers.org/clinvar/228491 ^@ NM_022124.5(CDH23):c.380A>G (p.Asp127Gly) http://identifiers.org/clinvar/227991 ^@ NM_005422.2(TECTA):c.2271G>A (p.Lys757=) http://identifiers.org/clinvar/228191 ^@ NM_153676.3(USH1C):c.1413+13C>T http://identifiers.org/clinvar/227790 ^@ NM_001277269.1(OTOG):c.6703G>A (p.Val2235Met) http://identifiers.org/clinvar/227460 ^@ NM_000218.2(KCNQ1):c.1374C>T (p.Val458=) http://identifiers.org/clinvar/227590 ^@ NM_002471.3(MYH6):c.3787G>A (p.Val1263Met) http://identifiers.org/clinvar/227640 ^@ NM_016239.3(MYO15A):c.4407T>C (p.Ser1469=) http://identifiers.org/clinvar/227740 ^@ NM_000267.3(NF1):c.1450C>T (p.Leu484=) http://identifiers.org/clinvar/227690 ^@ NM_003803.3(MYOM1):c.1340-14delT http://identifiers.org/clinvar/227510 ^@ NM_144612.6(LOXHD1):c.1244T>G (p.Val415Gly) http://identifiers.org/clinvar/227540 ^@ NM_030662.3(MAP2K2):c.705+11G>A http://identifiers.org/clinvar/228041 ^@ NM_001039141.2(TRIOBP):c.6575+14G>A http://identifiers.org/clinvar/228291 ^@ NM_006941.3(SOX10):c.401T>C (p.Leu134Pro) http://identifiers.org/clinvar/228591 ^@ NM_004006.2(DMD):c.5208C>A (p.Asp1736Glu) http://identifiers.org/clinvar/228241 ^@ NM_001039891.2(ZNF674):c.990_991delCA (p.Ile331Terfs) http://identifiers.org/clinvar/228391 ^@ NM_000307.4(POU3F4):c.607_610delCAAA (p.Gln203Glufs) http://identifiers.org/clinvar/228541 ^@ NM_001885.2(CRYAB):c.368G>A (p.Arg123Gln) http://identifiers.org/clinvar/234899 ^@ NM_004321.7(KIF1A):c.815A>G (p.Asn272Ser) http://identifiers.org/clinvar/234798 ^@ NM_000179.2(MSH6):c.457+2dupT http://identifiers.org/clinvar/234849 ^@ NM_002485.4(NBN):c.817_848dup32 (p.Asp284Glnfs) http://identifiers.org/clinvar/234748 ^@ NM_005159.4(ACTC1):c.299C>T (p.Pro100Leu) http://identifiers.org/clinvar/233072 ^@ NM_000143.3(FH):c.468C>A (p.Val156=) http://identifiers.org/clinvar/233172 ^@ NM_000465.3(BARD1):c.82C>A (p.Pro28Thr) http://identifiers.org/clinvar/231232 ^@ NM_000465.3(BARD1):c.69_70delGCinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25Glyfs) http://identifiers.org/clinvar/230082 ^@ NM_000465.3(BARD1):c.61C>T (p.Arg21Cys) http://identifiers.org/clinvar/233322 ^@ NM_000251.2(MSH2):c.22A>T (p.Thr8Ser) http://identifiers.org/clinvar/232471 ^@ NM_000179.2(MSH6):c.3857T>C (p.Leu1286Pro) http://identifiers.org/clinvar/231032 ^@ NM_000249.3(MLH1):c.1698T>C (p.Tyr566=) http://identifiers.org/clinvar/264107 ^@ NM_002474.2(MYH11):c.5742C>T (p.Asn1914=) http://identifiers.org/clinvar/263807 ^@ NM_002474.2(MYH11):c.2098C>T (p.Arg700Trp) http://identifiers.org/clinvar/263607 ^@ NM_006440.4(TXNRD2):c.1511T>C (p.Val504Ala) http://identifiers.org/clinvar/263404 ^@ NM_080647.1(TBX1):c.143_145dupCGC (p.Pro48_Arg49insPro) http://identifiers.org/clinvar/263352 ^@ NM_004006.2(DMD):c.4684A>G (p.Arg1562Gly) http://identifiers.org/clinvar/264728 ^@ NM_001242896.1(DEPDC5):c.1093_1099dupGATTTGG (p.Val367GlyfsTer20) http://identifiers.org/clinvar/265493 ^@ NM_001271208.1(NEB):c.24632_24633delCT (p.Pro8211Argfs) http://identifiers.org/clinvar/265293 ^@ NM_025216.2(WNT10A):c.742C>T (p.Arg248Ter) http://identifiers.org/clinvar/265443 ^@ NM_001904.3(CTNNB1):c.283C>T (p.Arg95Ter) http://identifiers.org/clinvar/265242 ^@ NM_130799.2(MEN1):c.1590delA (p.Gly531Valfs) http://identifiers.org/clinvar/265543 ^@ NM_004360.4(CDH1):c.1354_1357delCTAC (p.Leu452Thrfs) http://identifiers.org/clinvar/265189 ^@ NM_000833.4(GRIN2A):c.2356+11G>A http://identifiers.org/clinvar/265644 ^@ NM_000088.3(COL1A1):c.3123delC (p.Ala1042Leufs) http://identifiers.org/clinvar/265393 ^@ NM_003073.4(SMARCB1):c.1096C>T (p.Arg366Cys) http://identifiers.org/clinvar/265694 ^@ NM_007194.3(CHEK2):c.902T>A (p.Leu301Ter) http://identifiers.org/clinvar/265343 ^@ NM_004484.3(GPC3):c.175+1G>A http://identifiers.org/clinvar/265594 ^@ NM_003688.3(CASK):c.2512A>T (p.Lys838Ter) http://identifiers.org/clinvar/265783 ^@ NR_033294.1(SNORD118):n.*5C>G http://identifiers.org/clinvar/265933 ^@ NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) http://identifiers.org/clinvar/265883 ^@ NM_000384.2(APOB):c.1829A>G (p.Asp610Gly) http://identifiers.org/clinvar/265988 ^@ NM_198428.2(BBS9):c.785T>C (p.Val262Ala) http://identifiers.org/clinvar/266039 ^@ NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) http://identifiers.org/clinvar/266615 ^@ NM_000059.3(BRCA2):c.1195delA (p.Thr399Profs) http://identifiers.org/clinvar/266665 ^@ NM_000059.3(BRCA2):c.1888_1889insAA (p.Thr630Lysfs) http://identifiers.org/clinvar/266565 ^@ NM_007294.3(BRCA1):c.5560delC (p.Leu1854Terfs) http://identifiers.org/clinvar/266515 ^@ NM_007294.3(BRCA1):c.5030_5033dupCTAA (p.Leu1679Terfs) http://identifiers.org/clinvar/266465 ^@ NM_007294.3(BRCA1):c.4284_4285delCTinsG (p.Ser1428Argfs) http://identifiers.org/clinvar/266415 ^@ NM_007294.3(BRCA1):c.3907_3908delTTinsGGA (p.Leu1303Glyfs) http://identifiers.org/clinvar/266365 ^@ NM_007294.3(BRCA1):c.3395delA (p.Asn1132Thrfs) http://identifiers.org/clinvar/266315 ^@ NM_007294.3(BRCA1):c.2882delA (p.Asn961Thrfs) http://identifiers.org/clinvar/266265 ^@ NM_007294.3(BRCA1):c.2473delG (p.Asp825Thrfs) http://identifiers.org/clinvar/266215 ^@ NM_007294.3(BRCA1):c.2086_2089delACTT (p.Thr696Serfs) http://identifiers.org/clinvar/266165 ^@ NM_007294.3(BRCA1):c.140_141insT (p.Met48Hisfs) http://identifiers.org/clinvar/267356 ^@ NM_001733.4(C1R):c.869A>G (p.Asp290Gly) http://identifiers.org/clinvar/267425 ^@ NM_017780.3(CHD7):c.3526C>T (p.Gln1176Ter) http://identifiers.org/clinvar/267661 ^@ NM_000059.3(BRCA2):c.6879delT (p.Phe2293Leufs) http://identifiers.org/clinvar/267711 ^@ NM_000059.3(BRCA2):c.8954-15T>G http://identifiers.org/clinvar/267561 ^@ NM_007294.3(BRCA1):c.4986+1_4986+2ins65 http://identifiers.org/clinvar/267611 ^@ NM_007294.3(BRCA1):c.670+1del http://identifiers.org/clinvar/267511 ^@ NM_007294.3(BRCA1):c.-19-2A>G http://identifiers.org/clinvar/267790 ^@ NM_006087.3(TUBB4A):c.1162A>G (p.M388V) http://identifiers.org/clinvar/267841 ^@ 46;XX;t(7;13)(p13;q34)dn http://identifiers.org/clinvar/267891 ^@ 46;XY;t(9;15)(q13;q11.2)dn http://identifiers.org/clinvar/267941 ^@ 46;XY;inv(6)(p22q13)dn http://identifiers.org/clinvar/267991 ^@ 46;XX;inv(12)(p11.2q15) http://identifiers.org/clinvar/268041 ^@ 46;XY;t(5;7)(q35;q33)dn http://identifiers.org/clinvar/268106 ^@ NM_181789.2(GLDN):c.95C>A (p.Ala32Glu) http://identifiers.org/clinvar/268170 ^@ NM_005993.4(TBCD):c.2280C>A (p.Tyr760Ter) http://identifiers.org/clinvar/279587 ^@ NM_000339.2(SLC12A3):c.1338delC (p.Met447Terfs) http://identifiers.org/clinvar/290894 ^@ NM_015295.2(SMCHD1):c.5038C>G (p.Pro1680Ala) http://identifiers.org/clinvar/290944 ^@ NM_001079867.1(PEX2):c.795T>C (p.Tyr265=) http://identifiers.org/clinvar/290994 ^@ NM_020361.4(CPA6):c.367C>G (p.His123Asp) http://identifiers.org/clinvar/291410 ^@ NM_001918.3(DBT):c.*4506A>G http://identifiers.org/clinvar/291460 ^@ NM_015074.3(KIF1B):c.-127G>A http://identifiers.org/clinvar/292862 ^@ NM_022367.3(SEMA4A):c.*181C>T http://identifiers.org/clinvar/292662 ^@ NM_152263.3(TPM3):c.*2298T>C http://identifiers.org/clinvar/292712 ^@ NM_001111.4(ADAR):c.*2586C>T http://identifiers.org/clinvar/292612 ^@ NM_000449.3(RFX5):c.1226C>G (p.Pro409Arg) http://identifiers.org/clinvar/292762 ^@ NM_001111.4(ADAR):c.3018C>T (p.Asn1006=) http://identifiers.org/clinvar/292812 ^@ NM_000298.5(PKLR):c.790C>T (p.Leu264=) http://identifiers.org/clinvar/293901 ^@ NM_002065.6(GLUL):c.*1910_*1913delAAGAinsTCATTTAAGT http://identifiers.org/clinvar/294351 ^@ NM_003748.3(ALDH4A1):c.*502A>G http://identifiers.org/clinvar/294401 ^@ NM_003748.3(ALDH4A1):c.-65G>C http://identifiers.org/clinvar/294501 ^@ NM_000186.3(CFH):c.2236+8T>A http://identifiers.org/clinvar/294551 ^@ NM_030787.3(CFHR5):c.1586T>G (p.Leu529Arg) http://identifiers.org/clinvar/294601 ^@ NM_018136.4(ASPM):c.9439A>G (p.Ile3147Val) http://identifiers.org/clinvar/294751 ^@ NM_000069.2(CACNA1S):c.1948+13G>C http://identifiers.org/clinvar/294901 ^@ NM_003465.2(CHIT1):c.*599C>G http://identifiers.org/clinvar/294851 ^@ NM_001005337.2(PKP1):c.*683A>G http://identifiers.org/clinvar/294951 ^@ NM_000537.3(REN):c.961-12C>A http://identifiers.org/clinvar/295001 ^@ NM_032409.2(PINK1):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/293851 ^@ NM_014625.3(NPHS2):c.148C>T (p.Arg50Trp) http://identifiers.org/clinvar/344193 ^@ NM_198407.2(GHSR):c.*472C>T http://identifiers.org/clinvar/343343 ^@ NM_014382.3(ATP2C1):c.*1203delC http://identifiers.org/clinvar/343593 ^@ NM_001184.3(ATR):c.6197G>A (p.Arg2066Gln) http://identifiers.org/clinvar/336196 ^@ NM_000341.3(SLC3A1):c.892-6C>G http://identifiers.org/clinvar/343843 ^@ NM_005677.3(COLQ):c.*85G>A http://identifiers.org/clinvar/343993 ^@ NM_020800.2(IFT80):c.-410G>T http://identifiers.org/clinvar/344093 ^@ NM_000055.3(BCHE):c.1137G>A (p.Gln379=) http://identifiers.org/clinvar/345032 ^@ NM_001106.3(ACVR2B):c.*8512A>C http://identifiers.org/clinvar/345182 ^@ NM_018075.4(ANO10):c.1477-14G>A http://identifiers.org/clinvar/344293 ^@ NM_145261.3(DNAJC19):c.*325T>C http://identifiers.org/clinvar/345232 ^@ NM_016006.4(ABHD5):c.*879G>A http://identifiers.org/clinvar/337153 ^@ NM_003849.3(SUCLG1):c.1028G>C (p.Arg343Thr) http://identifiers.org/clinvar/337203 ^@ NM_000821.6(GGCX):c.*3401_*3402dupCA http://identifiers.org/clinvar/345682 ^@ NM_015175.2(NBEAL2):c.6723C>T (p.Asn2241=) http://identifiers.org/clinvar/337303 ^@ NM_198843.2(SFTPB):c.851G>A (p.Arg284His) http://identifiers.org/clinvar/345082 ^@ NM_198056.2(SCN5A):c.*1087G>A http://identifiers.org/clinvar/337253 ^@ NM_000821.6(GGCX):c.*108G>T http://identifiers.org/clinvar/345982 ^@ NM_002292.3(LAMB2):c.4011T>C (p.His1337=) http://identifiers.org/clinvar/346082 ^@ NM_153281.1(HYAL1):c.1292G>A (p.Arg431Gln) http://identifiers.org/clinvar/337553 ^@ NM_014014.4(SNRNP200):c.2422-8C>T http://identifiers.org/clinvar/346182 ^@ NM_052859.3(RFT1):c.*127G>A http://identifiers.org/clinvar/346232 ^@ NM_003392.4(WNT5A):c.*2711delC http://identifiers.org/clinvar/337603 ^@ NM_020184.3(CNNM4):c.*965A>G http://identifiers.org/clinvar/345432 ^@ NM_020208.3(SLC6A20):c.-84G>T http://identifiers.org/clinvar/337653 ^@ NM_001298.2(CNGA3):c.215+11A>G http://identifiers.org/clinvar/345582 ^@ NM_000316.2(PTH1R):c.313+4C>T http://identifiers.org/clinvar/345632 ^@ NM_015175.2(NBEAL2):c.1948G>A (p.Gly650Arg) http://identifiers.org/clinvar/345832 ^@ NM_000094.3(COL7A1):c.5605-14T>C http://identifiers.org/clinvar/346132 ^@ NM_003280.2(TNNC1):c.55+9C>A http://identifiers.org/clinvar/342993 ^@ NM_000373.3(UMPS):c.*3026G>A http://identifiers.org/clinvar/346282 ^@ NM_003392.4(WNT5A):c.-575G>A http://identifiers.org/clinvar/346332 ^@ NM_001457.3(FLNB):c.3515C>T (p.Ser1172Leu) http://identifiers.org/clinvar/343243 ^@ NM_052985.3(IFT122):c.1866G>T (p.Ser622=) http://identifiers.org/clinvar/343443 ^@ NM_001063.3(TF):c.1302C>T (p.Ser434=) http://identifiers.org/clinvar/343393 ^@ NM_153240.4(NPHP3):c.260C>G (p.Ala87Gly) http://identifiers.org/clinvar/348171 ^@ NM_000860.5(HPGD):c.*1618A>T http://identifiers.org/clinvar/343743 ^@ NG_009847.1:g.48363A>G http://identifiers.org/clinvar/346832 ^@ NM_000306.3(POU1F1):c.*141A>T http://identifiers.org/clinvar/353959 ^@ NM_001104631.1(PDE4D):c.*1638G>A http://identifiers.org/clinvar/353809 ^@ NM_002203.3(ITGA2):c.*1764delA http://identifiers.org/clinvar/354209 ^@ NM_003719.3(PDE8B):c.*1520T>C http://identifiers.org/clinvar/354109 ^@ NM_022132.4(MCCC2):c.*526C>T http://identifiers.org/clinvar/354159 ^@ NM_003719.3(PDE8B):c.1299G>A (p.Leu433=) http://identifiers.org/clinvar/358638 ^@ NM_014491.3(FOXP2):c.*1701A>C http://identifiers.org/clinvar/362626 ^@ NM_006158.4(NEFL):c.*1155T>G http://identifiers.org/clinvar/362676 ^@ NM_000742.3(CHRNA2):c.*1006G>A http://identifiers.org/clinvar/362726 ^@ NM_001017420.2(ESCO2):c.-68T>G http://identifiers.org/clinvar/363276 ^@ NM_006269.1(RP1):c.-12-12T>C http://identifiers.org/clinvar/359538 ^@ NM_001101426.3(ISPD):c.*2223_*2226dupGTAC http://identifiers.org/clinvar/363476 ^@ NM_017780.3(CHD7):c.6924G>A (p.Ser2308=) http://identifiers.org/clinvar/363726 ^@ NM_018972.2(GDAP1):c.*751A>G http://identifiers.org/clinvar/363926 ^@ NM_153704.5(TMEM67):c.2570C>G (p.Ala857Gly) http://identifiers.org/clinvar/364226 ^@ NM_014425.4(INVS):c.1317C>T (p.Cys439=) http://identifiers.org/clinvar/364326 ^@ NM_005502.3(ABCA1):c.*3029A>G http://identifiers.org/clinvar/364376 ^@ NM_005502.3(ABCA1):c.*16delC http://identifiers.org/clinvar/355999 ^@ NM_004562.2(PRKN):c.*1281C>T http://identifiers.org/clinvar/356049 ^@ NM_003730.4(RNASET2):c.-227G>T http://identifiers.org/clinvar/356199 ^@ NM_000410.3(HFE):c.*301C>A http://identifiers.org/clinvar/360677 ^@ NM_000501.3(ELN):c.*659G>C http://identifiers.org/clinvar/355949 ^@ NM_033071.3(SYNE1):c.330G>A (p.Pro110=) http://identifiers.org/clinvar/360727 ^@ NM_000941.2(POR):c.*150_*152delCTC http://identifiers.org/clinvar/360777 ^@ NM_000601.5(HGF):c.1765G>A (p.Val589Ile) http://identifiers.org/clinvar/356399 ^@ NM_080680.2(COL11A2):c.2416C>T (p.Arg806Cys) http://identifiers.org/clinvar/360827 ^@ NM_005751.4(AKAP9):c.4293G>A (p.Leu1431=) http://identifiers.org/clinvar/356499 ^@ NM_182548.3(LHFPL5):c.*419T>C http://identifiers.org/clinvar/356299 ^@ NM_006929.4(SKIV2L):c.-370C>T http://identifiers.org/clinvar/356699 ^@ NM_000409.4(GUCA1A):c.*627T>A http://identifiers.org/clinvar/361227 ^@ NM_178857.5(RP1L1):c.6322G>A (p.Gly2108Arg) http://identifiers.org/clinvar/356949 ^@ NM_006502.2(POLH):c.*1819A>G http://identifiers.org/clinvar/357149 ^@ NM_012120.2(CD2AP):c.-441C>A http://identifiers.org/clinvar/361787 ^@ NM_004519.3(KCNQ3):c.*5719C>T http://identifiers.org/clinvar/311116 ^@ NM_001846.3(COL4A2):c.992A>G (p.Asp331Gly) http://identifiers.org/clinvar/366676 ^@ NM_203447.3(DOCK8):c.1623C>G (p.His541Gln) http://identifiers.org/clinvar/311216 ^@ NM_001846.3(COL4A2):c.*800G>A http://identifiers.org/clinvar/367355 ^@ NM_033305.2(VPS13A):c.1596-10_1596-8delTTT http://identifiers.org/clinvar/366826 ^@ NM_005476.5(GNE):c.*719_*724dupAATAAT http://identifiers.org/clinvar/311466 ^@ NM_002010.2(FGF9):c.*2325A>G http://identifiers.org/clinvar/311566 ^@ NM_014363.5(SACS):c.1173T>C (p.Ser391=) http://identifiers.org/clinvar/367555 ^@ NM_000507.3(FBP1):c.889A>G (p.Thr297Ala) http://identifiers.org/clinvar/367126 ^@ NM_004972.3(JAK2):c.1470T>C (p.Asn490=) http://identifiers.org/clinvar/364176 ^@ NM_004612.3(TGFBR1):c.*3830T>C http://identifiers.org/clinvar/367405 ^@ NM_033305.2(VPS13A):c.6906T>A (p.Ser2302Arg) http://identifiers.org/clinvar/313255 ^@ NM_002408.3(MGAT2):c.261G>T (p.Leu87=) http://identifiers.org/clinvar/299229 ^@ NM_021980.4(OPTN):c.*413G>A http://identifiers.org/clinvar/299279 ^@ NM_001033855.2(DCLRE1C):c.*1060G>A http://identifiers.org/clinvar/313555 ^@ NM_182914.2(SYNE2):c.10881C>T (p.Ile3627=) http://identifiers.org/clinvar/299579 ^@ NM_201590.2(CACNB2):c.*124_*127dupATTA http://identifiers.org/clinvar/299179 ^@ NM_000274.3(OAT):c.-53C>T http://identifiers.org/clinvar/314105 ^@ NM_031427.3(DNAL1):c.*5630delA http://identifiers.org/clinvar/299729 ^@ NM_014915.2(ANKRD26):c.4497A>G (p.Leu1499=) http://identifiers.org/clinvar/299979 ^@ NM_002900.2(RBP3):c.1754C>A (p.Pro585His) http://identifiers.org/clinvar/299379 ^@ NM_001081.3(CUBN):c.9525G>A (p.Ser3175=) http://identifiers.org/clinvar/300079 ^@ NM_000124.3(ERCC6):c.1436G>A (p.Arg479His) http://identifiers.org/clinvar/299629 ^@ NM_178161.2(PTF1A):c.*117A>G http://identifiers.org/clinvar/300279 ^@ NM_000399.4(EGR2):c.246C>G (p.Val82=) http://identifiers.org/clinvar/315094 ^@ NM_177438.2(DICER1):c.*465A>G http://identifiers.org/clinvar/299779 ^@ NM_032844.4(MASTL):c.-226G>A http://identifiers.org/clinvar/300379 ^@ NM_018344.5(SLC29A3):c.*429C>T http://identifiers.org/clinvar/306182 ^@ NM_000260.3(MYO7A):c.3415G>A (p.Gly1139Ser) http://identifiers.org/clinvar/299929 ^@ NM_020975.4(RET):c.*1278delG http://identifiers.org/clinvar/306282 ^@ NM_024698.5(SLC25A22):c.-237G>A http://identifiers.org/clinvar/315594 ^@ NM_133647.1(SLC12A6):c.*1098G>A http://identifiers.org/clinvar/315644 ^@ NM_005159.4(ACTC1):c.*2275C>T http://identifiers.org/clinvar/300029 ^@ NM_000124.3(ERCC6):c.*232dupT http://identifiers.org/clinvar/306583 ^@ NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) http://identifiers.org/clinvar/300229 ^@ NM_000417.2(IL2RA):c.*1061C>T http://identifiers.org/clinvar/315944 ^@ NM_138477.2(CDAN1):c.1839G>A (p.Gly613=) http://identifiers.org/clinvar/311166 ^@ NM_001846.3(COL4A2):c.3634+13G>A http://identifiers.org/clinvar/311366 ^@ NM_004004.5(GJB2):c.*482A>G http://identifiers.org/clinvar/311416 ^@ NM_002010.2(FGF9):c.-118_-117dupTT http://identifiers.org/clinvar/330127 ^@ NM_024075.4(TSEN34):c.262C>T (p.Arg88Cys) http://identifiers.org/clinvar/310361 ^@ NM_000365.5(TPI1):c.543+5C>G http://identifiers.org/clinvar/310511 ^@ NM_002469.2(MYF6):c.*182T>C http://identifiers.org/clinvar/318946 ^@ NM_000294.2(PHKG2):c.*839A>G http://identifiers.org/clinvar/306683 ^@ NM_018979.3(WNK1):c.*772_*776delTACTT http://identifiers.org/clinvar/337753 ^@ NM_000214.2(JAG1):c.2199C>T (p.Gly733=) http://identifiers.org/clinvar/318996 ^@ NM_004960.3(FUS):c.*270A>G http://identifiers.org/clinvar/337803 ^@ NM_006363.4(SEC23B):c.*493A>G http://identifiers.org/clinvar/319096 ^@ NM_000243.2(MEFV):c.*639G>A http://identifiers.org/clinvar/310866 ^@ NM_004115.3(FGF14):c.*1445_*1446dupTT http://identifiers.org/clinvar/319296 ^@ NM_018206.5(VPS35):c.89T>A (p.Met30Lys) http://identifiers.org/clinvar/319346 ^@ NM_000293.2(PHKB):c.1350C>T (p.Ile450=) http://identifiers.org/clinvar/338053 ^@ NM_033118.3(MYLK2):c.*288G>A http://identifiers.org/clinvar/311016 ^@ NM_001845.5(COL4A1):c.*176A>G http://identifiers.org/clinvar/338253 ^@ NM_032034.3(SLC4A11):c.739G>A (p.Val247Ile) http://identifiers.org/clinvar/311066 ^@ NM_001845.5(COL4A1):c.1000-13C>G http://identifiers.org/clinvar/319647 ^@ NM_015272.4(RPGRIP1L):c.3839T>C (p.Phe1280Ser) http://identifiers.org/clinvar/338303 ^@ NM_000178.3(GSS):c.-16G>A http://identifiers.org/clinvar/319697 ^@ NM_001080432.2(FTO):c.*361C>A http://identifiers.org/clinvar/319797 ^@ NM_001043.3(SLC6A2):c.848C>G (p.Thr283Arg) http://identifiers.org/clinvar/319847 ^@ NM_031885.3(BBS2):c.*91C>T http://identifiers.org/clinvar/311316 ^@ NM_021954.3(GJA3):c.*744A>G http://identifiers.org/clinvar/319947 ^@ NM_000339.2(SLC12A3):c.*1204T>C http://identifiers.org/clinvar/311516 ^@ NM_014363.5(SACS):c.8755G>T (p.Ala2919Ser) http://identifiers.org/clinvar/320097 ^@ NM_001297.4(CNGB1):c.1275C>G (p.Ala425=) http://identifiers.org/clinvar/313055 ^@ NM_025152.2(NUBPL):c.*1147dupA http://identifiers.org/clinvar/313205 ^@ NM_020937.3(FANCM):c.2339A>C (p.Glu780Ala) http://identifiers.org/clinvar/339293 ^@ NM_001853.3(COL9A3):c.1449C>T (p.Asn483=) http://identifiers.org/clinvar/313705 ^@ NM_000347.5(SPTB):c.5915G>A (p.Arg1972Gln) http://identifiers.org/clinvar/321236 ^@ NM_000303.2(PMM2):c.*368C>G http://identifiers.org/clinvar/313805 ^@ NM_002382.4(MAX):c.*461C>T http://identifiers.org/clinvar/321286 ^@ NM_003119.3(SPG7):c.1971C>T (p.Ile657=) http://identifiers.org/clinvar/321386 ^@ NM_002386.3(MC1R):c.-1209C>T http://identifiers.org/clinvar/314005 ^@ NM_000021.3(PSEN1):c.*4030A>G http://identifiers.org/clinvar/321486 ^@ NM_000833.4(GRIN2A):c.*7293delT http://identifiers.org/clinvar/314055 ^@ NM_031427.3(DNAL1):c.*2094C>G http://identifiers.org/clinvar/314155 ^@ NM_031427.3(DNAL1):c.*7692A>G http://identifiers.org/clinvar/326828 ^@ NM_144612.6(LOXHD1):c.6147C>T (p.Tyr2049=) http://identifiers.org/clinvar/326928 ^@ NM_001080467.2(MYO5B):c.*3153T>C http://identifiers.org/clinvar/327028 ^@ NM_001080467.2(MYO5B):c.3396+9T>C http://identifiers.org/clinvar/327178 ^@ NM_005359.5(SMAD4):c.*5259A>T http://identifiers.org/clinvar/330177 ^@ NM_206828.3(NLRP7):c.835G>T (p.Val279Leu) http://identifiers.org/clinvar/337703 ^@ NM_018848.3(MKKS):c.-477G>T http://identifiers.org/clinvar/338103 ^@ NM_015338.5(ASXL1):c.2908A>G (p.Ser970Gly) http://identifiers.org/clinvar/329927 ^@ NM_024729.3(MYH14):c.3049-12T>C http://identifiers.org/clinvar/330027 ^@ NM_144687.3(NLRP12):c.2046A>G (p.Ala682=) http://identifiers.org/clinvar/339243 ^@ NM_017671.4(FERMT1):c.-185A>G http://identifiers.org/clinvar/330227 ^@ NM_001015878.1(AURKC):c.-80dupC http://identifiers.org/clinvar/330277 ^@ NM_000064.3(C3):c.4645C>A (p.Leu1549Met) http://identifiers.org/clinvar/330527 ^@ NM_006702.4(PNPLA6):c.2288-11C>A http://identifiers.org/clinvar/337853 ^@ NM_000361.2(THBD):c.*1869G>A http://identifiers.org/clinvar/337903 ^@ NM_198994.2(TGM6):c.95T>G (p.Val32Gly) http://identifiers.org/clinvar/337953 ^@ NM_014588.5(VSX1):c.*159G>A http://identifiers.org/clinvar/338003 ^@ NM_001042472.2(ABHD12):c.-118T>C http://identifiers.org/clinvar/338153 ^@ NM_006892.3(DNMT3B):c.143-8C>T http://identifiers.org/clinvar/339343 ^@ NM_172107.3(KCNQ2):c.-169G>T http://identifiers.org/clinvar/382703 ^@ NM_000077.4(CDKN2A):c.396G>C (p.Ala132=) http://identifiers.org/clinvar/385006 ^@ NM_001080449.2(DNA2):c.1649A>G (p.Asn550Ser) http://identifiers.org/clinvar/389634 ^@ NM_016203.3(PRKAG2):c.1679-3C>T http://identifiers.org/clinvar/383203 ^@ NM_001134363.2(RBM20):c.1527+9G>A http://identifiers.org/clinvar/384706 ^@ NM_152264.4(SLC39A13):c.301+20C>T http://identifiers.org/clinvar/384455 ^@ NM_006393.2(NEBL):c.2868+9C>T http://identifiers.org/clinvar/387845 ^@ NM_032578.3(MYPN):c.2949G>A (p.Lys983=) http://identifiers.org/clinvar/389084 ^@ NM_000051.3(ATM):c.3771A>C (p.Pro1257=) http://identifiers.org/clinvar/381011 ^@ NM_000051.3(ATM):c.4560T>C (p.Ile1520=) http://identifiers.org/clinvar/381361 ^@ NM_000051.3(ATM):c.4437-20T>G http://identifiers.org/clinvar/384606 ^@ NM_004408.3(DNM1):c.-15G>T http://identifiers.org/clinvar/387345 ^@ NM_001876.3(CPT1A):c.1983C>T (p.Tyr661=) http://identifiers.org/clinvar/381411 ^@ NM_001876.3(CPT1A):c.1055G>A (p.Arg352Gln) http://identifiers.org/clinvar/381311 ^@ NM_032667.6(BSCL2):c.814-8C>T http://identifiers.org/clinvar/391873 ^@ NM_000093.4(COL5A1):c.2899-13G>T http://identifiers.org/clinvar/392323 ^@ NM_002336.2(LRP6):c.3178C>T (p.Arg1060Ter) http://identifiers.org/clinvar/381761 ^@ NM_006231.3(POLE):c.2640G>A (p.Thr880=) http://identifiers.org/clinvar/389684 ^@ NM_006888.4(CALM1):c.178+18A>G http://identifiers.org/clinvar/383153 ^@ NM_004612.3(TGFBR1):c.204C>T (p.Asn68=) http://identifiers.org/clinvar/381161 ^@ NM_025114.3(CEP290):c.6358-4G>A http://identifiers.org/clinvar/392723 ^@ NM_017649.4(CNNM2):c.2318C>T (p.Pro773Leu) http://identifiers.org/clinvar/387445 ^@ NM_000059.3(BRCA2):c.960A>G (p.Leu320=) http://identifiers.org/clinvar/389134 ^@ NM_002206.2(ITGA7):c.1409+11C>T http://identifiers.org/clinvar/389784 ^@ NM_025137.3(SPG11):c.2280C>T (p.Cys760=) http://identifiers.org/clinvar/387145 ^@ NM_001080449.2(DNA2):c.491A>G (p.Glu164Gly) http://identifiers.org/clinvar/385156 ^@ NM_000059.3(BRCA2):c.10018G>A (p.Ala3340Thr) http://identifiers.org/clinvar/381611 ^@ NM_000138.4(FBN1):c.1670G>A (p.Cys557Tyr) http://identifiers.org/clinvar/392623 ^@ NM_000314.6(PTEN):c.1125T>C (p.Asp375=) http://identifiers.org/clinvar/387245 ^@ NM_001376.4(DYNC1H1):c.7476A>G (p.Arg2492=) http://identifiers.org/clinvar/389284 ^@ NM_000051.3(ATM):c.5763-12A>G http://identifiers.org/clinvar/387695 ^@ NM_000051.3(ATM):c.6777T>C (p.Ser2259=) http://identifiers.org/clinvar/384405 ^@ NM_001271.3(CHD2):c.3573G>A (p.Gln1191=) http://identifiers.org/clinvar/389534 ^@ NM_003476.4(CSRP3):c.-54G>T http://identifiers.org/clinvar/391723 ^@ NM_006946.2(SPTBN2):c.6679C>T (p.Arg2227Cys) http://identifiers.org/clinvar/381061 ^@ NM_016725.2(FOLR1):c.714C>T (p.Pro238=) http://identifiers.org/clinvar/388684 ^@ NM_016373.3(WWOX):c.618G>C (p.Val206=) http://identifiers.org/clinvar/380709 ^@ NM_006231.3(POLE):c.4552-11C>T http://identifiers.org/clinvar/386845 ^@ NM_006231.3(POLE):c.2721T>C (p.Asn907=) http://identifiers.org/clinvar/382753 ^@ NM_006231.3(POLE):c.2027-12C>T http://identifiers.org/clinvar/48062 ^@ NM_170707.3(LMNA):c.357C>T (p.Arg119=) http://identifiers.org/clinvar/48112 ^@ NM_000337.5(SGCD):c.-372C>G http://identifiers.org/clinvar/48162 ^@ NM_194248.2(OTOF):c.100G>A (p.Val34Ile) http://identifiers.org/clinvar/48212 ^@ NM_194248.2(OTOF):c.297G>A (p.Thr99=) http://identifiers.org/clinvar/48262 ^@ NM_194248.2(OTOF):c.5558G>A (p.Arg1853Gln) http://identifiers.org/clinvar/48312 ^@ NM_198056.2(SCN5A):c.5860G>A (p.Glu1954Lys) http://identifiers.org/clinvar/48363 ^@ NM_206933.2(USH2A):c.10933G>A (p.Val3645Ile) http://identifiers.org/clinvar/48413 ^@ NM_206933.2(USH2A):c.13191G>A (p.Glu4397=) http://identifiers.org/clinvar/48463 ^@ NM_206933.2(USH2A):c.15428G>A (p.Arg5143His) http://identifiers.org/clinvar/48515 ^@ NM_206933.2(USH2A):c.4371G>A (p.Ser1457=) http://identifiers.org/clinvar/152 ^@ NM_000274.3(OAT):c.461G>T (p.Arg154Leu) http://identifiers.org/clinvar/161 ^@ NM_000274.3(OAT):c.1134C>T (p.Asn378=) http://identifiers.org/clinvar/166 ^@ OAT, ALU INS http://identifiers.org/clinvar/377 ^@ NM_000308.3(CTSA):c.200A>G (p.Gln67Arg) http://identifiers.org/clinvar/573 ^@ NM_001102416.2(KNG1):c.1493delA (p.Lys498Serfs) http://identifiers.org/clinvar/600 ^@ NM_000277.1(PAH):c.764T>C (p.Leu255Ser) http://identifiers.org/clinvar/623 ^@ NM_000277.1(PAH):c.1066-3C>T http://identifiers.org/clinvar/1152 ^@ PFKM, IVS15DS, G-T, +1 http://identifiers.org/clinvar/1198 ^@ NM_001038603.2(MARVELD2):c.1498C>T (p.Arg500Ter) http://identifiers.org/clinvar/1242 ^@ NM_032753.3(RAX2):c.417_422dupCCCGGG (p.Gly141_Leu142insProGly) http://identifiers.org/clinvar/1293 ^@ NM_018006.4(TRMU):c.815G>A (p.Gly272Asp) http://identifiers.org/clinvar/1338 ^@ NM_025114.3(CEP290):c.2249T>G (p.Leu750Ter) http://identifiers.org/clinvar/1383 ^@ NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) http://identifiers.org/clinvar/1429 ^@ NM_001177317.1(SLC34A3):c.846G>A (p.Pro282=) http://identifiers.org/clinvar/1474 ^@ NM_000190.3(HMBS):c.766C>A (p.His256Asn) http://identifiers.org/clinvar/1565 ^@ NM_000263.3(NAGLU):c.1927C>T (p.Arg643Cys) http://identifiers.org/clinvar/1704 ^@ NM_000124.3(ERCC6):c.972dupA (p.Glu325Argfs) http://identifiers.org/clinvar/1751 ^@ NM_000787.3(DBH):c.342C>A (p.Asp114Glu) http://identifiers.org/clinvar/1800 ^@ NM_000102.3(CYP17A1):c.601T>A (p.Tyr201Asn) http://identifiers.org/clinvar/1846 ^@ MPLKIP, EX1-2DEL http://identifiers.org/clinvar/1891 ^@ NM_004693.2(KRT75):c.481G>A (p.Ala161Thr) http://identifiers.org/clinvar/1936 ^@ NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) http://identifiers.org/clinvar/2025 ^@ CHD7, IVS26AS, G-A, -7 http://identifiers.org/clinvar/2070 ^@ NM_018100.3(EFHC1):c.883C>T (p.Gln295Ter) http://identifiers.org/clinvar/2701 ^@ NM_021098.2(CACNA1H):c.483C>A (p.Phe161Leu) http://identifiers.org/clinvar/2748 ^@ NM_004183.3(BEST1):c.682G>A (p.Asp228Asn) http://identifiers.org/clinvar/2793 ^@ NM_000158.3(GBE1):c.1643G>A (p.Trp548Ter) http://identifiers.org/clinvar/2838 ^@ NM_000019.3(ACAT1):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/2884 ^@ NM_025193.3(HSD3B7):c.439G>A (p.Glu147Lys) http://identifiers.org/clinvar/2929 ^@ NM_001033503.2(SAR1B):c.554G>T (p.Gly185Val) http://identifiers.org/clinvar/2974 ^@ NM_000271.4(NPC1):c.530G>A (p.Cys177Tyr) http://identifiers.org/clinvar/3019 ^@ NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) http://identifiers.org/clinvar/3069 ^@ NM_000487.5(ARSA):c.511G>A (p.Asp171Asn) http://identifiers.org/clinvar/3116 ^@ NM_000218.2(KCNQ1):c.935C>T (p.Thr312Ile) http://identifiers.org/clinvar/3168 ^@ NM_000187.3(HGD):c.481G>A (p.Gly161Arg) http://identifiers.org/clinvar/3213 ^@ NM_001079802.1(FKTN):c.340G>A (p.Ala114Thr) http://identifiers.org/clinvar/3262 ^@ NM_000529.2(MC2R):c.319G>A (p.Asp107Asn) http://identifiers.org/clinvar/3307 ^@ NM_000383.3(AIRE):c.769C>T (p.Arg257Ter) http://identifiers.org/clinvar/3352 ^@ NM_004698.2(PRPF3):c.1481C>T (p.Thr494Met) http://identifiers.org/clinvar/242796 ^@ NM_000202.7(IDS):c.1466G>C (p.Gly489Ala) http://identifiers.org/clinvar/11145 ^@ NM_182680.1(AMELX):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/11191 ^@ ARX, 1-BP DEL, 790C http://identifiers.org/clinvar/11236 ^@ NM_004006.2(DMD):c.10019G>A (p.Cys3340Tyr) http://identifiers.org/clinvar/11281 ^@ DMD, ALU INS http://identifiers.org/clinvar/11326 ^@ NM_004085.3(TIMM8A):c.127delT (p.Cys43Valfs) http://identifiers.org/clinvar/11372 ^@ BTK, 16-BP INS, NT1263 http://identifiers.org/clinvar/11632 ^@ NM_006517.4(SLC16A2):c.1313T>C (p.Leu438Pro) http://identifiers.org/clinvar/11683 ^@ NM_000307.4(POU3F4):c.990A>T (p.Arg330Ser) http://identifiers.org/clinvar/11733 ^@ ATRX, 751A-G http://identifiers.org/clinvar/11785 ^@ ATP7A, IVS6DS, T-A, +6 http://identifiers.org/clinvar/11835 ^@ NM_004992.3(MECP2):c.298C>G (p.Leu100Val) http://identifiers.org/clinvar/11885 ^@ NM_002769.4(PRSS1):c.361G>A (p.Ala121Thr) http://identifiers.org/clinvar/11935 ^@ NM_000431.3(MVK):c.16_34del19 (p.Leu6Glyfs) http://identifiers.org/clinvar/11986 ^@ NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg) http://identifiers.org/clinvar/12087 ^@ F7, GLU25LYS http://identifiers.org/clinvar/12137 ^@ NM_000387.5(SLC25A20):c.199-10T>G http://identifiers.org/clinvar/12191 ^@ NM_001166120.1(HSD3B2):c.664C>A (p.Pro222Thr) http://identifiers.org/clinvar/12243 ^@ CDH1, 1-BP INS, 1588C http://identifiers.org/clinvar/12293 ^@ UNG, 2-BP DEL, 497AT http://identifiers.org/clinvar/12345 ^@ NM_001065.3(TNFRSF1A):c.295T>A (p.Cys99Ser) http://identifiers.org/clinvar/12396 ^@ NM_000548.4(TSC2):c.1513C>T (p.Arg505Ter) http://identifiers.org/clinvar/12448 ^@ NM_152263.3(TPM3):c.855-1G>A http://identifiers.org/clinvar/12498 ^@ NM_000359.2(TGM1):c.866A>C (p.Asn289Thr) http://identifiers.org/clinvar/12548 ^@ NM_001128177.1(THRB):c.1349T>A (p.Leu450His) http://identifiers.org/clinvar/12599 ^@ PDGFB, PDGFB/COL1A1 FUSION http://identifiers.org/clinvar/12649 ^@ NM_001256850.1(TTN):c.2219G>T (p.Arg740Leu) http://identifiers.org/clinvar/12700 ^@ NM_003235.4(TG):c.6725G>A (p.Arg2242His) http://identifiers.org/clinvar/12751 ^@ NM_198053.2(CD247):c.209A>T (p.Gln70Leu) http://identifiers.org/clinvar/12801 ^@ NM_004959.4(NR5A1):c.234G>A (p.Met78Ile) http://identifiers.org/clinvar/12851 ^@ NM_003126.2(SPTA1):c.145C>T (p.Leu49Phe) http://identifiers.org/clinvar/12902 ^@ NM_006920.4(SCN1A):c.4462T>C (p.Phe1488Leu) http://identifiers.org/clinvar/12952 ^@ NM_001161766.1(AHCY):c.252G>A (p.Trp84Ter) http://identifiers.org/clinvar/13003 ^@ NM_000996.2(RPL35A):c.304C>T (p.Arg102Ter) http://identifiers.org/clinvar/13054 ^@ NM_000539.3(RHO):c.281C>T (p.Thr94Ile) http://identifiers.org/clinvar/13309 ^@ NM_000506.4(F2):c.462_463insT (p.Asn155Terfs) http://identifiers.org/clinvar/13359 ^@ POMC, 1-BP DEL, NT6996 http://identifiers.org/clinvar/13413 ^@ NM_000311.4(PRNP):c.313C>A (p.Pro105Thr) http://identifiers.org/clinvar/13465 ^@ NM_000371.3(TTR):c.149T>G (p.Val50Gly) http://identifiers.org/clinvar/13515 ^@ NM_002693.2(POLG):c.679C>T (p.Arg227Trp) http://identifiers.org/clinvar/36638 ^@ NM_000257.3(MYH7):c.3337G>A (p.Ala1113Thr) http://identifiers.org/clinvar/36690 ^@ NM_000535.6(PMS2):c.2466T>C (p.Leu822=) http://identifiers.org/clinvar/36743 ^@ NM_001035.2(RYR2):c.4069G>C (p.Asp1357His) http://identifiers.org/clinvar/36794 ^@ NM_000116.4(TAZ):c.110-17C>T http://identifiers.org/clinvar/36844 ^@ NM_000458.3(HNF1B):c.1654-4G>A http://identifiers.org/clinvar/36895 ^@ NM_080911.2(UNG):c.732G>A (p.Gln244=) http://identifiers.org/clinvar/36964 ^@ NM_002501.3(NFIX):c.955+1G>A http://identifiers.org/clinvar/37063 ^@ NM_001161581.1(POC1A):c.398T>C (p.Leu133Pro) http://identifiers.org/clinvar/37133 ^@ NM_022787.3(NMNAT1):c.619C>T (p.Arg207Trp) http://identifiers.org/clinvar/37265 ^@ NM_182919.3(TICAM1):c.421C>T (p.Arg141Ter) http://identifiers.org/clinvar/37355 ^@ NM_000155.3(GALT):c.82G>A (p.Asp28Asn) http://identifiers.org/clinvar/37420 ^@ NM_007294.3(BRCA1):c.1534C>T (p.Leu512Phe) http://identifiers.org/clinvar/37472 ^@ NM_007294.3(BRCA1):c.2475delC (p.Asp825Glufs) http://identifiers.org/clinvar/37530 ^@ NM_007294.3(BRCA1):c.3442delG (p.Glu1148Argfs) http://identifiers.org/clinvar/37583 ^@ NM_007294.3(BRCA1):c.42C>A (p.Val14=) http://identifiers.org/clinvar/37635 ^@ NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) http://identifiers.org/clinvar/37691 ^@ NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) http://identifiers.org/clinvar/37743 ^@ NM_000059.3(BRCA2):c.1487C>T (p.Ser496Phe) http://identifiers.org/clinvar/38424 ^@ NM_024312.4(GNPTAB):c.3249+1G>A http://identifiers.org/clinvar/38752 ^@ NM_000495.4(COL4A5):c.682G>T (p.Glu228Ter) http://identifiers.org/clinvar/38863 ^@ NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) http://identifiers.org/clinvar/38926 ^@ NM_001099274.1(TINF2):c.865_866delCCinsAG (p.Pro289Ser) http://identifiers.org/clinvar/38977 ^@ NM_004614.4(TK2):c.156+2T>C http://identifiers.org/clinvar/39028 ^@ NM_024312.4(GNPTAB):c.1285-2A>G http://identifiers.org/clinvar/39078 ^@ NM_024312.4(GNPTAB):c.3741_3744delAGAA (p.Glu1248Leufs) http://identifiers.org/clinvar/39135 ^@ NM_198578.3(LRRK2):c.1517G>A (p.Arg506Gln) http://identifiers.org/clinvar/39185 ^@ NM_198578.3(LRRK2):c.4324G>C (p.Ala1442Pro) http://identifiers.org/clinvar/39235 ^@ NM_198578.3(LRRK2):c.7168G>A (p.Val2390Met) http://identifiers.org/clinvar/39286 ^@ NR_001566.1(TERC):n.228G>A http://identifiers.org/clinvar/39448 ^@ NM_007101.3(SARDH):c.211G>T (p.Val71Phe) http://identifiers.org/clinvar/39500 ^@ NM_183075.2(CYP2U1):c.947A>T (p.Asp316Val) http://identifiers.org/clinvar/39550 ^@ ALOXE3, ARG145HIS http://identifiers.org/clinvar/39601 ^@ NM_004208.3(AIFM1):c.1478A>T (p.Glu493Val) http://identifiers.org/clinvar/39652 ^@ DNAH5, GLY1047ARG http://identifiers.org/clinvar/39704 ^@ NM_006218.3(PIK3CA):c.1133G>A (p.Cys378Tyr) http://identifiers.org/clinvar/39755 ^@ NM_145239.2(PRRT2):c.291delC (p.Asn98Thrfs) http://identifiers.org/clinvar/39805 ^@ NM_003106.3(SOX2):c.837delC (p.Gly280Alafs) http://identifiers.org/clinvar/39856 ^@ NM_015295.2(SMCHD1):c.2068C>T (p.Pro690Ser) http://identifiers.org/clinvar/40011 ^@ NM_001005216.3(OR2J3):c.337A>G (p.Thr113Ala) http://identifiers.org/clinvar/40186 ^@ NM_000108.4(DLD):c.1436A>T (p.Asp479Val) http://identifiers.org/clinvar/40302 ^@ NM_004625.3(WNT7A):c.214G>A (p.Glu72Lys) http://identifiers.org/clinvar/40402 ^@ NM_005188.3(CBL):c.698A>G (p.Asn233Ser) http://identifiers.org/clinvar/40471 ^@ NM_002524.4(NRAS):c.37G>T (p.Gly13Cys) http://identifiers.org/clinvar/40531 ^@ NM_002834.4(PTPN11):c.854-30T>C http://identifiers.org/clinvar/40592 ^@ NM_002880.3(RAF1):c.452T>C (p.Phe151Ser) http://identifiers.org/clinvar/51140 ^@ NM_000059.3(BRCA2):c.1540dupG (p.Glu514Glyfs) http://identifiers.org/clinvar/51191 ^@ NM_000059.3(BRCA2):c.1784A>G (p.His595Arg) http://identifiers.org/clinvar/51244 ^@ NM_000059.3(BRCA2):c.2103_2106delTATT (p.Phe701Leufs) http://identifiers.org/clinvar/51294 ^@ NM_000059.3(BRCA2):c.2471T>G (p.Leu824Ter) http://identifiers.org/clinvar/51345 ^@ NM_000059.3(BRCA2):c.2786dupT (p.Leu929Phefs) http://identifiers.org/clinvar/51395 ^@ NM_000059.3(BRCA2):c.3076A>T (p.Lys1026Ter) http://identifiers.org/clinvar/52918 ^@ NM_000059.3(BRCA2):c.9925G>A (p.Glu3309Lys) http://identifiers.org/clinvar/52968 ^@ NM_000218.2(KCNQ1):c.1174_1176dupTGG (p.Trp392_Lys393insTrp) http://identifiers.org/clinvar/53018 ^@ NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) http://identifiers.org/clinvar/53068 ^@ NM_000218.2(KCNQ1):c.566G>A (p.Gly189Glu) http://identifiers.org/clinvar/53119 ^@ NM_000218.2(KCNQ1):c.862_880del19 (p.Val288Trpfs) http://identifiers.org/clinvar/53171 ^@ NM_000492.3(CFTR):c.1037T>C (p.Leu346Pro) http://identifiers.org/clinvar/53222 ^@ NM_000492.3(CFTR):c.1240C>T (p.Gln414Ter) http://identifiers.org/clinvar/53274 ^@ NM_000492.3(CFTR):c.1510G>T (p.Glu504Ter) http://identifiers.org/clinvar/53325 ^@ NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) http://identifiers.org/clinvar/53375 ^@ NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) http://identifiers.org/clinvar/53426 ^@ NM_000492.3(CFTR):c.2013_2015delAGA (p.Glu672del) http://identifiers.org/clinvar/53480 ^@ NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) http://identifiers.org/clinvar/53530 ^@ NM_000492.3(CFTR):c.2620-6T>C http://identifiers.org/clinvar/53580 ^@ NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) http://identifiers.org/clinvar/53631 ^@ NM_000492.3(CFTR):c.3025G>A (p.Ala1009Thr) http://identifiers.org/clinvar/53683 ^@ NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) http://identifiers.org/clinvar/53733 ^@ NM_000492.3(CFTR):c.3409A>G (p.Met1137Val) http://identifiers.org/clinvar/53784 ^@ NM_000492.3(CFTR):c.3629T>A (p.Met1210Lys) http://identifiers.org/clinvar/53836 ^@ NM_000492.3(CFTR):c.387delT (p.Leu130Serfs) http://identifiers.org/clinvar/53888 ^@ NM_000492.3(CFTR):c.40A>T (p.Lys14Ter) http://identifiers.org/clinvar/53939 ^@ NM_000492.3(CFTR):c.42delA (p.Lys14Asnfs) http://identifiers.org/clinvar/53989 ^@ NM_000492.3(CFTR):c.53+4A>T http://identifiers.org/clinvar/54039 ^@ NM_000492.3(CFTR):c.675T>A (p.Cys225Ter) http://identifiers.org/clinvar/54091 ^@ NM_000492.3:c.948 http://identifiers.org/clinvar/54141 ^@ NM_007294.3(BRCA1):c.112_113delAA (p.Lys38Valfs) http://identifiers.org/clinvar/54191 ^@ NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser) http://identifiers.org/clinvar/54241 ^@ NM_007294.3(BRCA1):c.1399A>T (p.Lys467Ter) http://identifiers.org/clinvar/54932 ^@ NM_007294.3(BRCA1):c.3601G>A (p.Gly1201Ser) http://identifiers.org/clinvar/54984 ^@ NM_007294.3(BRCA1):c.3736delA (p.Thr1246Profs) http://identifiers.org/clinvar/55035 ^@ NM_007294.3(BRCA1):c.3878C>A (p.Ala1293Asp) http://identifiers.org/clinvar/55086 ^@ NM_007294.3(BRCA1):c.4049dupG (p.Glu1352Glyfs) http://identifiers.org/clinvar/55137 ^@ NM_007294.3(BRCA1):c.4198A>G (p.Met1400Val) http://identifiers.org/clinvar/55187 ^@ NM_007294.3(BRCA1):c.4389C>A (p.Tyr1463Ter) http://identifiers.org/clinvar/55238 ^@ NM_007294.3(BRCA1):c.4611_4612insG (p.Gln1538Alafs) http://identifiers.org/clinvar/55288 ^@ NM_007294.3(BRCA1):c.4789A>G (p.Thr1597Ala) http://identifiers.org/clinvar/55339 ^@ NM_007294.3(BRCA1):c.4985T>C (p.Phe1662Ser) http://identifiers.org/clinvar/55389 ^@ NM_007294.3(BRCA1):c.5085T>A (p.Phe1695Leu) http://identifiers.org/clinvar/55439 ^@ NM_007294.3(BRCA1):c.5161_5163delCAG (p.Gln1721del) http://identifiers.org/clinvar/55489 ^@ NM_007294.3(BRCA1):c.5260G>T (p.Glu1754Ter) http://identifiers.org/clinvar/55542 ^@ NM_007294.3(BRCA1):c.5341G>T (p.Glu1781Ter) http://identifiers.org/clinvar/55592 ^@ NM_007294.3(BRCA1):c.5478G>T (p.Gln1826His) http://identifiers.org/clinvar/55642 ^@ NM_007294.3(BRCA1):c.591C>T (p.Cys197=) http://identifiers.org/clinvar/55695 ^@ NM_007294.3(BRCA1):c.768_769insAG (p.His257Serfs) http://identifiers.org/clinvar/55746 ^@ NM_007294.3(BRCA1):c.8T>G (p.Leu3Ter) http://identifiers.org/clinvar/55814 ^@ NM_020812.3(DOCK6):c.2520dupT (p.Arg841Serfs) http://identifiers.org/clinvar/55880 ^@ NM_004656.3(BAP1):c.1654delG (p.Asp552Ilefs) http://identifiers.org/clinvar/101185 ^@ NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) http://identifiers.org/clinvar/101235 ^@ NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ) http://identifiers.org/clinvar/101285 ^@ NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg) http://identifiers.org/clinvar/101335 ^@ NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val) http://identifiers.org/clinvar/101385 ^@ NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu) http://identifiers.org/clinvar/101435 ^@ NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter) http://identifiers.org/clinvar/101485 ^@ NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del) http://identifiers.org/clinvar/102440 ^@ NM_017775.3(TTC19):c.829C>T (p.Gln277Ter) http://identifiers.org/clinvar/102498 ^@ NM_000277.1(PAH):c.1055delG (p.Gly352Valfs) http://identifiers.org/clinvar/102864 ^@ NM_000277.1(PAH):c.838G>C (p.Glu280Gln) http://identifiers.org/clinvar/102916 ^@ NM_000277.1(PAH):c.969+6T>A http://identifiers.org/clinvar/125818 ^@ NM_007294.3(BRCA1):c.5278-4_5278-2del http://identifiers.org/clinvar/125881 ^@ NM_007294.3(BRCA1):c.547+1G>A http://identifiers.org/clinvar/125946 ^@ NM_000059.3(BRCA2):c.1504A>C (p.Lys502Gln) http://identifiers.org/clinvar/126008 ^@ NM_000059.3(BRCA2):c.132_133ins8 http://identifiers.org/clinvar/126077 ^@ M1915T http://identifiers.org/clinvar/126144 ^@ U43746.1:n.7829+1G>A http://identifiers.org/clinvar/126203 ^@ NM_000059.3(BRCA2):c.9227G>T (p.Gly3076Val) http://identifiers.org/clinvar/126262 ^@ NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) http://identifiers.org/clinvar/126312 ^@ NM_020732.3(ARID1B):c.1285A>G (p.Met429Val) http://identifiers.org/clinvar/126363 ^@ NM_001128849.1(SMARCA4):c.4590C>T (p.Tyr1530=) http://identifiers.org/clinvar/126420 ^@ NM_021978.3(ST14):c.2034delG (p.Leu678Phefs) http://identifiers.org/clinvar/242644 ^@ NM_000155.2(GALT):c.-1039_753del http://identifiers.org/clinvar/126493 ^@ NM_005654.5(NR2F1):c.344G>C (p.Arg115Pro) http://identifiers.org/clinvar/126574 ^@ NM_024675.3(PALB2):c.-200-?_3113+?del http://identifiers.org/clinvar/126624 ^@ NM_024675.3(PALB2):c.1743A>G (p.Leu581=) http://identifiers.org/clinvar/126676 ^@ NM_024675.3(PALB2):c.2732C>T (p.Thr911Ile) http://identifiers.org/clinvar/126726 ^@ NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) http://identifiers.org/clinvar/126777 ^@ NM_024675.3(PALB2):c.899C>T (p.Thr300Ile) http://identifiers.org/clinvar/126828 ^@ NM_000321.2(RB1):c.1060_1061delCA (p.Gln354Glufs) http://identifiers.org/clinvar/126882 ^@ NM_017545.2(HAO1):c.814-4211G>A http://identifiers.org/clinvar/126937 ^@ NM_001127464.2(ZNF469):c.1627G>A (p.Gly543Ser) http://identifiers.org/clinvar/126987 ^@ NM_000249.3(MLH1):c.1668-35G>A http://identifiers.org/clinvar/127037 ^@ NM_020661.3(AICDA):c.*446G>A http://identifiers.org/clinvar/127094 ^@ NM_000856.5(GUCY1A3):c.1086+1G>A http://identifiers.org/clinvar/127161 ^@ NM_001101.3(ACTB):c.193C>T (p.Leu65Phe) http://identifiers.org/clinvar/127260 ^@ NM_001127255.1(NLRP7):c.1823C>T (p.Ser608Phe) http://identifiers.org/clinvar/127311 ^@ NM_000038.5(APC):c.6383delC (p.Ala2128Valfs) http://identifiers.org/clinvar/159946 ^@ NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) http://identifiers.org/clinvar/160369 ^@ NM_003051.3(SLC16A1):c.41dupC (p.Asp15Argfs) http://identifiers.org/clinvar/160821 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 http://identifiers.org/clinvar/160872 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 http://identifiers.org/clinvar/160925 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/160976 ^@ GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1 http://identifiers.org/clinvar/161027 ^@ GRCh38/hg38 6q27(chr6:167963663-168157303)x3 http://identifiers.org/clinvar/161077 ^@ GRCh38/hg38 9p24.3(chr9:204193-332515)x1 http://identifiers.org/clinvar/161127 ^@ NM_152296.4(ATP1A3):c.998G>T (p.Cys333Phe) http://identifiers.org/clinvar/161259 ^@ NM_000222.2(KIT):c.532G>A (p.Ala178Thr) http://identifiers.org/clinvar/161209 ^@ NM_000724.3(CACNB2):c.215C>T (p.Ala72Val) http://identifiers.org/clinvar/161359 ^@ NM_020975.4(RET):c.3191T>C (p.Met1064Thr) http://identifiers.org/clinvar/161309 ^@ NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) http://identifiers.org/clinvar/161415 ^@ NM_182758.3(WDR72):c.1467_1468delAT (p.Val491Aspfs) http://identifiers.org/clinvar/161478 ^@ NM_001003827.1:c.-5G>A http://identifiers.org/clinvar/178388 ^@ NM_004700.3(KCNQ4):c.465A>C (p.Gly155=) http://identifiers.org/clinvar/179457 ^@ NM_201557.3(FHL2):c.678C>A (p.Asn226Lys) http://identifiers.org/clinvar/178188 ^@ NM_001256850.1(TTN):c.70839G>T (p.Val23613=) http://identifiers.org/clinvar/178038 ^@ NM_201557.3(FHL2):c.109G>T (p.Ala37Ser) http://identifiers.org/clinvar/178238 ^@ NM_133378.4(TTN):c.19335C>T (p.Asp6445=) http://identifiers.org/clinvar/178907 ^@ NM_133378.4(TTN):c.1851A>C (p.Thr617=) http://identifiers.org/clinvar/178756 ^@ NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) http://identifiers.org/clinvar/178138 ^@ NM_024334.2(TMEM43):c.280G>A (p.Ala94Thr) http://identifiers.org/clinvar/178588 ^@ NM_006005.3(WFS1):c.997G>T (p.Val333Phe) http://identifiers.org/clinvar/179507 ^@ NM_006005.3(WFS1):c.1935G>T (p.Leu645=) http://identifiers.org/clinvar/178957 ^@ NM_004999.3(MYO6):c.238C>T (p.Arg80Ter) http://identifiers.org/clinvar/178338 ^@ NM_015404.3(WHRN):c.955G>T (p.Gly319Trp) http://identifiers.org/clinvar/199060 ^@ NM_001134363.2(RBM20):c.2318A>G (p.Lys773Arg) http://identifiers.org/clinvar/199114 ^@ NM_005765.2(ATP6AP2):c.980A>G (p.Asn327Ser) http://identifiers.org/clinvar/199165 ^@ NM_022437.2(ABCG8):c.1387G>A (p.Val463Ile) http://identifiers.org/clinvar/199221 ^@ NM_001271208.1(NEB):c.18842A>G (p.Glu6281Gly) http://identifiers.org/clinvar/199656 ^@ NM_207111.3(RNF216):c.1616A>G (p.Tyr539Cys) http://identifiers.org/clinvar/200967 ^@ NM_170707.3(LMNA):c.1698+16C>T http://identifiers.org/clinvar/201214 ^@ NM_001035.2(RYR2):c.1258C>T (p.Arg420Trp) http://identifiers.org/clinvar/201161 ^@ NM_001035.2(RYR2):c.2204-16G>T http://identifiers.org/clinvar/201272 ^@ NM_001035.2(RYR2):c.6950C>A (p.Ala2317Glu) http://identifiers.org/clinvar/201325 ^@ NM_001035.2(RYR2):c.12272C>T (p.Ala4091Val) http://identifiers.org/clinvar/199722 ^@ NM_000090.3(COL3A1):c.1472G>A (p.Arg491Gln) http://identifiers.org/clinvar/199942 ^@ NM_004415.3(DSP):c.151C>T (p.Gln51Ter) http://identifiers.org/clinvar/200670 ^@ NM_000238.3(KCNH2):c.2768delC (p.Pro923Argfs) http://identifiers.org/clinvar/200245 ^@ NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) http://identifiers.org/clinvar/200789 ^@ NM_000238.3(KCNH2):c.1815delC (p.Ser606Profs) http://identifiers.org/clinvar/200378 ^@ NM_000238.3(KCNH2):c.1733A>C (p.His578Pro) http://identifiers.org/clinvar/200553 ^@ NM_000238.3(KCNH2):c.139G>T (p.Gly47Cys) http://identifiers.org/clinvar/200910 ^@ NM_000218.2(KCNQ1):c.373T>G (p.Tyr125Asp) http://identifiers.org/clinvar/200851 ^@ NM_000218.2(KCNQ1):c.1685+1G>A http://identifiers.org/clinvar/200111 ^@ NM_000138.4(FBN1):c.7267G>T (p.Gly2423Ter) http://identifiers.org/clinvar/200170 ^@ NM_000138.4(FBN1):c.6722_6725dupACCG (p.Arg2243Profs) http://identifiers.org/clinvar/200058 ^@ NM_000138.4(FBN1):c.5021G>T (p.Cys1674Phe) http://identifiers.org/clinvar/200003 ^@ NM_000138.4(FBN1):c.2806C>T (p.Gln936Ter) http://identifiers.org/clinvar/201042 ^@ NM_002474.2(MYH11):c.5787-4707C>G http://identifiers.org/clinvar/201095 ^@ NM_002474.2(MYH11):c.217A>C (p.Lys73Gln) http://identifiers.org/clinvar/199776 ^@ NM_024422.4(DSC2):c.4G>A (p.Glu2Lys) http://identifiers.org/clinvar/199831 ^@ NM_001943.4(DSG2):c.2372_2373delCA (p.Thr791Serfs) http://identifiers.org/clinvar/201723 ^@ NM_001927.3(DES):c.833G>C (p.Arg278Pro) http://identifiers.org/clinvar/201777 ^@ NM_000117.2(EMD):c.671C>T (p.Pro224Leu) http://identifiers.org/clinvar/242592 ^@ NM_016124.4(RHD):c.1063G>A (p.Gly355Ser) http://identifiers.org/clinvar/203104 ^@ NM_001256850.1(TTN):c.101210C>G (p.Ala33737Gly) http://identifiers.org/clinvar/203054 ^@ NM_001256850.1(TTN):c.95506G>C (p.Glu31836Gln) http://identifiers.org/clinvar/203004 ^@ NM_001256850.1(TTN):c.89579T>C (p.Ile29860Thr) http://identifiers.org/clinvar/202954 ^@ NM_001256850.1(TTN):c.83908G>A (p.Val27970Met) http://identifiers.org/clinvar/202904 ^@ NM_001256850.1(TTN):c.76366G>C (p.Val25456Leu) http://identifiers.org/clinvar/202854 ^@ NM_001256850.1(TTN):c.69262G>A (p.Ala23088Thr) http://identifiers.org/clinvar/202804 ^@ NM_001256850.1(TTN):c.62140C>T (p.Pro20714Ser) http://identifiers.org/clinvar/232583 ^@ NM_000038.5(APC):c.4939A>T (p.Thr1647Ser) http://identifiers.org/clinvar/232082 ^@ NM_005732.3(RAD50):c.2377A>G (p.Thr793Ala) http://identifiers.org/clinvar/233472 ^@ NM_005732.3(RAD50):c.3260A>G (p.His1087Arg) http://identifiers.org/clinvar/232132 ^@ NM_005732.3(RAD50):c.3516T>C (p.Asn1172=) http://identifiers.org/clinvar/232382 ^@ NM_000535.6(PMS2):c.1116C>T (p.Val372=) http://identifiers.org/clinvar/229893 ^@ NM_000535.6(PMS2):c.555C>T (p.Val185=) http://identifiers.org/clinvar/231932 ^@ NM_000535.6(PMS2):c.451C>T (p.Arg151Cys) http://identifiers.org/clinvar/229843 ^@ NM_000535.6(PMS2):c.5A>G (p.Glu2Gly) http://identifiers.org/clinvar/232332 ^@ NM_020975.4(RET):c.544C>T (p.Pro182Ser) http://identifiers.org/clinvar/232432 ^@ NM_000314.6(PTEN):c.816C>T (p.His272=) http://identifiers.org/clinvar/233572 ^@ NM_000051.3(ATM):c.1782A>G (p.Glu594=) http://identifiers.org/clinvar/231382 ^@ NM_000051.3(ATM):c.9039A>G (p.Leu3013=) http://identifiers.org/clinvar/231782 ^@ NM_000059.3(BRCA2):c.888T>A (p.Tyr296Ter) http://identifiers.org/clinvar/231432 ^@ NM_000059.3(BRCA2):c.2835dupA (p.Asp946Argfs) http://identifiers.org/clinvar/233622 ^@ NM_000059.3(BRCA2):c.7891C>A (p.Leu2631Met) http://identifiers.org/clinvar/231632 ^@ NM_000059.3(BRCA2):c.8404C>G (p.Pro2802Ala) http://identifiers.org/clinvar/234025 ^@ NM_000059.3(BRCA2):c.9259C>A (p.Leu3087Ile) http://identifiers.org/clinvar/231532 ^@ NM_000059.3(BRCA2):c.9409_9412delACTT (p.Thr3137Tyrfs) http://identifiers.org/clinvar/233422 ^@ NM_024675.3(PALB2):c.2053A>G (p.Lys685Glu) http://identifiers.org/clinvar/231582 ^@ NM_024675.3(PALB2):c.1771C>G (p.Pro591Ala) http://identifiers.org/clinvar/232182 ^@ NM_024675.3(PALB2):c.1638C>T (p.Val546=) http://identifiers.org/clinvar/229943 ^@ NM_024675.3(PALB2):c.38A>G (p.Glu13Gly) http://identifiers.org/clinvar/232232 ^@ NM_004360.4(CDH1):c.1183A>G (p.Thr395Ala) http://identifiers.org/clinvar/230343 ^@ NM_001042492.2(NF1):c.2581G>C (p.Ala861Pro) http://identifiers.org/clinvar/231982 ^@ NM_001042492.2(NF1):c.2885A>G (p.Glu962Gly) http://identifiers.org/clinvar/231832 ^@ NM_001042492.2(NF1):c.6293C>T (p.Ala2098Val) http://identifiers.org/clinvar/234225 ^@ NM_001042492.2(NF1):c.7700C>T (p.Pro2567Leu) http://identifiers.org/clinvar/232482 ^@ NM_002878.3(RAD51D):c.910G>T (p.Gly304Cys) http://identifiers.org/clinvar/233522 ^@ NM_007294.3(BRCA1):c.4606G>C (p.Glu1536Gln) http://identifiers.org/clinvar/229793 ^@ NM_007294.3(BRCA1):c.2131A>G (p.Lys711Glu) http://identifiers.org/clinvar/231732 ^@ NM_007294.3(BRCA1):c.1140dupG (p.Lys381Glufs) http://identifiers.org/clinvar/234175 ^@ NM_058216.2(RAD51C):c.404G>A (p.Cys135Tyr) http://identifiers.org/clinvar/233975 ^@ NM_032043.2(BRIP1):c.3251C>T (p.Thr1084Ile) http://identifiers.org/clinvar/231682 ^@ NM_032043.2(BRIP1):c.2059G>A (p.Val687Met) http://identifiers.org/clinvar/229693 ^@ NM_000546.5(TP53):c.188C>G (p.Ala63Gly) http://identifiers.org/clinvar/231882 ^@ NM_007194.3(CHEK2):c.185C>T (p.Ser62Phe) http://identifiers.org/clinvar/235050 ^@ NM_001035.2(RYR2):c.100A>C (p.Lys34Gln) http://identifiers.org/clinvar/235129 ^@ NM_004526.3(MCM2):c.130C>T (p.Arg44Cys) http://identifiers.org/clinvar/235237 ^@ NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter) http://identifiers.org/clinvar/235291 ^@ NM_005689.2(ABCB6):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/235343 ^@ NC_012920.1:m.8932C>T http://identifiers.org/clinvar/235397 ^@ NM_005135.2(SLC12A6):c.1304C>T (p.Thr435Met) http://identifiers.org/clinvar/235452 ^@ NM_015120.4(ALMS1):c.11057G>A (p.Ser3686Asn) http://identifiers.org/clinvar/242385 ^@ NM_016111.3(TELO2):c.514C>T (p.Gln172Ter) http://identifiers.org/clinvar/236360 ^@ NC_000008.9:g.3624157_3929480del305324 http://identifiers.org/clinvar/236410 ^@ NM_000310.3(PPT1):c.532_532delG (p.Glu178Asnfs) http://identifiers.org/clinvar/236461 ^@ NM_001298.2(CNGA3):c.248G>A (p.Trp83Ter) http://identifiers.org/clinvar/236511 ^@ NM_001297.4(CNGB1):c.2544dupG (p.Leu849Alafs) http://identifiers.org/clinvar/237115 ^@ NM_000143.3(FH):c.379G>T (p.Val127Leu) http://identifiers.org/clinvar/241422 ^@ NM_022114.3(PRDM16):c.1632C>T (p.Asp544=) http://identifiers.org/clinvar/239821 ^@ NM_004304.4(ALK):c.3354C>A (p.Leu1118=) http://identifiers.org/clinvar/240972 ^@ NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) http://identifiers.org/clinvar/240071 ^@ NM_004733.3(SLC33A1):c.1266+9G>C http://identifiers.org/clinvar/240672 ^@ NM_006514.3(SCN10A):c.3705G>A (p.Ala1235=) http://identifiers.org/clinvar/240722 ^@ NM_007159.4(SLMAP):c.1866T>A (p.Leu622=) http://identifiers.org/clinvar/240322 ^@ NM_006206.4(PDGFRA):c.201C>T (p.Ser67=) http://identifiers.org/clinvar/236561 ^@ NM_000038.5(APC):c.14C>T (p.Ser5Leu) http://identifiers.org/clinvar/236611 ^@ NM_000038.5(APC):c.4987G>T (p.Glu1663Ter) http://identifiers.org/clinvar/240222 ^@ NM_005732.3(RAD50):c.2026G>A (p.Glu676Lys) http://identifiers.org/clinvar/239671 ^@ NM_004168.3(SDHA):c.456+6G>T http://identifiers.org/clinvar/241372 ^@ NM_021072.3(HCN1):c.1338G>A (p.Glu446=) http://identifiers.org/clinvar/262760 ^@ NM_153717.2(EVC):c.1018C>A (p.Arg340=) http://identifiers.org/clinvar/257981 ^@ NM_001369.2(DNAH5):c.11570+4C>T http://identifiers.org/clinvar/258031 ^@ NM_001369.2(DNAH5):c.4254G>A (p.Leu1418=) http://identifiers.org/clinvar/255132 ^@ NM_000112.3(SLC26A2):c.2046G>A (p.Leu682=) http://identifiers.org/clinvar/263060 ^@ NM_182925.4(FLT4):c.401-19G>C http://identifiers.org/clinvar/255182 ^@ NM_000129.3(F13A1):c.1112+17A>G http://identifiers.org/clinvar/258131 ^@ NM_001458.4(FLNC):c.2122-27T>C http://identifiers.org/clinvar/258531 ^@ NM_002047.3(GARS):c.1032-23A>T http://identifiers.org/clinvar/260771 ^@ NM_016616.4(NME8):c.994+19A>G http://identifiers.org/clinvar/260921 ^@ NM_017802.3(DNAAF5):c.1056C>T (p.Leu352=) http://identifiers.org/clinvar/260371 ^@ NM_014251.2(SLC25A13):c.328+6A>G http://identifiers.org/clinvar/260171 ^@ NM_012082.3(ZFPM2):c.1362A>G (p.Pro454=) http://identifiers.org/clinvar/260271 ^@ NM_012472.5(LRRC6):c.1245A>G (p.Lys415=) http://identifiers.org/clinvar/262660 ^@ NM_152564.4(VPS13B):c.3262C>G (p.Pro1088Ala) http://identifiers.org/clinvar/254732 ^@ NM_000035.3(ALDOB):c.799+6G>A http://identifiers.org/clinvar/260021 ^@ NM_006731.2(FKTN):c.1044+44A>G http://identifiers.org/clinvar/258631 ^@ NM_002316.3(LMX1B):c.930G>A (p.Thr310=) http://identifiers.org/clinvar/258981 ^@ NM_003165.3(STXBP1):c.30C>T (p.Val10=) http://identifiers.org/clinvar/255082 ^@ NM_000093.4(COL5A1):c.3745-37G>A http://identifiers.org/clinvar/254882 ^@ NM_000077.4(CDKN2A):c.150+1255C>A http://identifiers.org/clinvar/260121 ^@ NM_007126.3(VCP):c.129+47G>A http://identifiers.org/clinvar/255682 ^@ NM_000264.3(PTCH1):c.3168+34A>G http://identifiers.org/clinvar/259771 ^@ NM_005445.3(SMC3):c.548-45A>C http://identifiers.org/clinvar/260471 ^@ NM_014915.2(ANKRD26):c.576G>A (p.Gln192=) http://identifiers.org/clinvar/260721 ^@ NM_016341.3(PLCE1):c.4902T>C (p.Ala1634=) http://identifiers.org/clinvar/255532 ^@ NM_000207.2(INS):c.187+11T>C http://identifiers.org/clinvar/263310 ^@ NM_213599.2(ANO5):c.1181-48T>A http://identifiers.org/clinvar/261421 ^@ NM_021625.4(TRPV4):c.903C>G (p.Val301=) http://identifiers.org/clinvar/262810 ^@ NM_172364.4(CACNA2D4):c.1599A>G (p.Ser533=) http://identifiers.org/clinvar/261471 ^@ NM_021957.3(GYS2):c.577G>A (p.Ala193Thr) http://identifiers.org/clinvar/258231 ^@ NM_001844.4(COL2A1):c.2949C>T (p.Val983=) http://identifiers.org/clinvar/258581 ^@ NM_002206.2(ITGA7):c.1464C>T (p.Ile488=) http://identifiers.org/clinvar/254782 ^@ NM_000059.3(BRCA2):c.2646T>A (p.Leu882=) http://identifiers.org/clinvar/255632 ^@ NM_000257.3(MYH7):c.5655+32G>A http://identifiers.org/clinvar/261021 ^@ NM_018139.2(DNAAF2):c.58G>C (p.Val20Leu) http://identifiers.org/clinvar/258831 ^@ NM_002863.4(PYGL):c.1119C>T (p.Phe373=) http://identifiers.org/clinvar/255732 ^@ NM_000275.2(OCA2):c.999C>T (p.Ile333=) http://identifiers.org/clinvar/260321 ^@ NM_014080.4(DUOX2):c.2334+10C>T http://identifiers.org/clinvar/335807 ^@ NM_000348.3(SRD5A2):c.*1056G>C http://identifiers.org/clinvar/335257 ^@ NM_004321.7(KIF1A):c.4548C>T (p.Tyr1516=) http://identifiers.org/clinvar/333366 ^@ NM_001006657.1(WDR35):c.*380G>A http://identifiers.org/clinvar/333466 ^@ NM_032977.3(CASP10):c.*1688A>G http://identifiers.org/clinvar/336357 ^@ NM_139279.5(MCFD2):c.*1346G>T http://identifiers.org/clinvar/333566 ^@ NM_001044385.2(TMEM237):c.-59G>A http://identifiers.org/clinvar/333616 ^@ NM_001204.6(BMPR2):c.-1114A>C http://identifiers.org/clinvar/335607 ^@ NM_001029883.2(C2orf71):c.*1278C>A http://identifiers.org/clinvar/333666 ^@ NM_001204.6(BMPR2):c.*995G>A http://identifiers.org/clinvar/335657 ^@ NM_001029883.2(C2orf71):c.1604T>C (p.Leu535Pro) http://identifiers.org/clinvar/335707 ^@ NM_004304.4(ALK):c.1550A>G (p.His517Arg) http://identifiers.org/clinvar/333716 ^@ NM_001204.6(BMPR2):c.*5946C>T http://identifiers.org/clinvar/333766 ^@ NM_005006.6(NDUFS1):c.*756A>T http://identifiers.org/clinvar/335907 ^@ NM_000104.3(CYP1B1):c.*3078G>A http://identifiers.org/clinvar/335957 ^@ NM_000104.3(CYP1B1):c.-1-14C>T http://identifiers.org/clinvar/333516 ^@ NM_001228.4(CASP8):c.*304C>T http://identifiers.org/clinvar/336007 ^@ NM_005633.3(SOS1):c.*642T>C http://identifiers.org/clinvar/336814 ^@ NM_002056.3(GFPT1):c.*3576A>G http://identifiers.org/clinvar/336864 ^@ NM_002056.3(GFPT1):c.*395C>T http://identifiers.org/clinvar/336207 ^@ NM_000341.3(SLC3A1):c.1510C>T (p.Arg504Cys) http://identifiers.org/clinvar/333816 ^@ NM_014929.3(FASTKD2):c.*585G>C http://identifiers.org/clinvar/333866 ^@ NM_014929.3(FASTKD2):c.*4360A>G http://identifiers.org/clinvar/336414 ^@ NM_002354.2(EPCAM):c.*73C>T http://identifiers.org/clinvar/336464 ^@ NM_000233.3(LHCGR):c.610C>T (p.Leu204=) http://identifiers.org/clinvar/334268 ^@ NM_173076.2(ABCA12):c.1296A>G (p.Gln432=) http://identifiers.org/clinvar/336514 ^@ NM_001135659.2(NRXN1):c.*2222A>G http://identifiers.org/clinvar/334067 ^@ NM_000384.2(APOB):c.13601A>G (p.Tyr4534Cys) http://identifiers.org/clinvar/334318 ^@ NM_015488.4(PNKD):c.476A>T (p.Glu159Val) http://identifiers.org/clinvar/337464 ^@ NM_017849.3(TMEM127):c.*2291_*2292delAA http://identifiers.org/clinvar/334117 ^@ NM_000384.2(APOB):c.8912A>C (p.Asn2971Thr) http://identifiers.org/clinvar/336614 ^@ NM_001039348.2(EFEMP1):c.*668C>T http://identifiers.org/clinvar/334218 ^@ NM_173076.2(ABCA12):c.*26G>A http://identifiers.org/clinvar/336714 ^@ NM_032180.2(FAM161A):c.*1223A>G http://identifiers.org/clinvar/337014 ^@ NM_015120.4(ALMS1):c.3409A>G (p.Thr1137Ala) http://identifiers.org/clinvar/334618 ^@ NM_003590.4(CUL3):c.*940C>T http://identifiers.org/clinvar/337064 ^@ NM_004082.4(DCTN1):c.*57C>T http://identifiers.org/clinvar/337164 ^@ NM_003849.3(SUCLG1):c.-39C>G http://identifiers.org/clinvar/342754 ^@ NM_000187.3(HGD):c.141G>A (p.Ser47=) http://identifiers.org/clinvar/342304 ^@ NM_016247.3(IMPG2):c.*1554C>T http://identifiers.org/clinvar/342354 ^@ NM_016247.3(IMPG2):c.887+10C>T http://identifiers.org/clinvar/342454 ^@ NM_000551.3(VHL):c.*1922G>A http://identifiers.org/clinvar/335457 ^@ NM_194248.2(OTOF):c.611A>C (p.Asp204Ala) http://identifiers.org/clinvar/343304 ^@ NM_000539.3(RHO):c.*948T>C http://identifiers.org/clinvar/342504 ^@ NM_000551.3(VHL):c.*3482dupA http://identifiers.org/clinvar/343354 ^@ NM_153240.4(NPHP3):c.*1121A>G http://identifiers.org/clinvar/335557 ^@ NM_144631.5(ZNF513):c.619C>T (p.Arg207Cys) http://identifiers.org/clinvar/342654 ^@ NM_020754.3(ARHGAP31):c.2036C>T (p.Thr679Ile) http://identifiers.org/clinvar/335357 ^@ NM_001035256.2(POMC):c.158A>G (p.Asp53Gly) http://identifiers.org/clinvar/342804 ^@ NM_000388.3(CASR):c.3054C>T (p.Cys1018=) http://identifiers.org/clinvar/335757 ^@ NM_000379.3(XDH):c.3875A>G (p.Lys1292Arg) http://identifiers.org/clinvar/335407 ^@ NM_000183.2(HADHB):c.825T>C (p.Val275=) http://identifiers.org/clinvar/343004 ^@ NM_000373.3(UMPS):c.*3367C>A http://identifiers.org/clinvar/357299 ^@ NM_003221.3(TFAP2B):c.*910_*911delAA http://identifiers.org/clinvar/354459 ^@ NM_004385.4(VCAN):c.8454G>A (p.Ala2818=) http://identifiers.org/clinvar/354509 ^@ NM_002890.2(RASA1):c.360C>A (p.Pro120=) http://identifiers.org/clinvar/357399 ^@ NM_138694.3(PKHD1):c.*308C>T http://identifiers.org/clinvar/354559 ^@ NM_002397.4(MEF2C):c.*3046G>A http://identifiers.org/clinvar/357649 ^@ NM_000129.3(F13A1):c.*1030G>T http://identifiers.org/clinvar/357749 ^@ NM_001142800.1(EYS):c.281C>A (p.Pro94Gln) http://identifiers.org/clinvar/354959 ^@ NM_014028.3(OSTM1):c.*1441delA http://identifiers.org/clinvar/351212 ^@ NM_001369.2(DNAH5):c.1382A>G (p.Gln461Arg) http://identifiers.org/clinvar/358199 ^@ NM_183050.3(BCKDHB):c.*1158T>G http://identifiers.org/clinvar/358249 ^@ NM_014165.3(NDUFAF4):c.*1443G>A http://identifiers.org/clinvar/358299 ^@ NM_003227.3(TFR2):c.479C>T (p.Thr160Ile) http://identifiers.org/clinvar/355210 ^@ NM_006073.3(TRDN):c.2078A>G (p.Tyr693Cys) http://identifiers.org/clinvar/355510 ^@ NM_017651.4(AHI1):c.612T>G (p.Ile204Met) http://identifiers.org/clinvar/355560 ^@ NM_000416.2(IFNGR1):c.490G>A (p.Glu164Lys) http://identifiers.org/clinvar/355610 ^@ NM_003764.3(STX11):c.*770C>T http://identifiers.org/clinvar/355660 ^@ NM_003764.3(STX11):c.*4053_*4054dupAA http://identifiers.org/clinvar/351662 ^@ NM_024577.3(SH3TC2):c.*14628C>T http://identifiers.org/clinvar/351762 ^@ NM_024577.3(SH3TC2):c.*8077A>G http://identifiers.org/clinvar/351862 ^@ NM_024577.3(SH3TC2):c.*1979C>T http://identifiers.org/clinvar/351912 ^@ NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) http://identifiers.org/clinvar/359238 ^@ NM_014141.5(CNTNAP2):c.*2875dupG http://identifiers.org/clinvar/352012 ^@ NM_000112.3(SLC26A2):c.-256G>A http://identifiers.org/clinvar/360238 ^@ NM_000168.5(GLI3):c.2412C>G (p.Val804=) http://identifiers.org/clinvar/360338 ^@ NM_014855.2(AP5Z1):c.1806-12C>T http://identifiers.org/clinvar/360438 ^@ NM_000790.3(DDC):c.412G>A (p.Gly138Arg) http://identifiers.org/clinvar/360488 ^@ NM_005228.4(EGFR):c.*1616T>C http://identifiers.org/clinvar/360888 ^@ NM_194456.1(KRIT1):c.846-5dupA http://identifiers.org/clinvar/357449 ^@ NM_138694.3(PKHD1):c.1693+10G>A http://identifiers.org/clinvar/357499 ^@ NM_018100.3(EFHC1):c.*896C>T http://identifiers.org/clinvar/360988 ^@ NM_003919.2(SGCE):c.1025G>A (p.Arg342Gln) http://identifiers.org/clinvar/357699 ^@ NM_001142800.1(EYS):c.6714delT (p.Ile2239Serfs) http://identifiers.org/clinvar/353620 ^@ NM_002310.5(LIFR):c.2066-14T>C http://identifiers.org/clinvar/357849 ^@ NM_014989.5(RIMS1):c.3171C>T (p.Ser1057=) http://identifiers.org/clinvar/358049 ^@ NM_004999.3(MYO6):c.*3835C>T http://identifiers.org/clinvar/353520 ^@ NM_000514.3(GDNF):c.-51A>G http://identifiers.org/clinvar/306193 ^@ NM_000260.3(MYO7A):c.5265G>A (p.Ala1755=) http://identifiers.org/clinvar/300529 ^@ NM_002778.3(PSAP):c.227T>A (p.Met76Lys) http://identifiers.org/clinvar/307433 ^@ NM_000017.3(ACADS):c.-56C>G http://identifiers.org/clinvar/300929 ^@ NM_002247.3(KCNMA1):c.*1935A>G http://identifiers.org/clinvar/307833 ^@ NM_172364.4(CACNA2D4):c.3339G>A (p.Ser1113=) http://identifiers.org/clinvar/307883 ^@ NM_019844.3(SLCO1B3):c.-128delC http://identifiers.org/clinvar/307933 ^@ NM_006446.4(SLCO1B1):c.314G>T (p.Gly105Val) http://identifiers.org/clinvar/307983 ^@ NM_021957.3(GYS2):c.*259T>A http://identifiers.org/clinvar/301129 ^@ NM_001002295.1(GATA3):c.1266G>A (p.Pro422=) http://identifiers.org/clinvar/301329 ^@ NM_001012720.1(RGR):c.*494G>C http://identifiers.org/clinvar/301629 ^@ NM_006204.3(PDE6C):c.1004C>A (p.Pro335Gln) http://identifiers.org/clinvar/298340 ^@ NM_000195.4(HPS1):c.1647C>T (p.Arg549=) http://identifiers.org/clinvar/309872 ^@ NM_012064.3(MIP):c.*674G>A http://identifiers.org/clinvar/309922 ^@ NM_005379.3(MYO1A):c.325+9C>G http://identifiers.org/clinvar/310322 ^@ NM_000619.2(IFNG):c.*107A>G http://identifiers.org/clinvar/310777 ^@ NM_003276.2(TMPO):c.*281C>T http://identifiers.org/clinvar/314455 ^@ NM_003239.4(TGFB3):c.-178C>T http://identifiers.org/clinvar/314505 ^@ NM_004452.3(ESRRB):c.*1109G>C http://identifiers.org/clinvar/312816 ^@ NM_001126106.2(SLC7A7):c.1119G>A (p.Leu373=) http://identifiers.org/clinvar/314555 ^@ NM_013382.5(POMT2):c.1464G>A (p.Ser488=) http://identifiers.org/clinvar/322340 ^@ NM_080669.5(SLC46A1):c.*4636C>T http://identifiers.org/clinvar/322690 ^@ NM_145068.3(TRPV3):c.*2611G>A http://identifiers.org/clinvar/322840 ^@ NM_004937.2(CTNS):c.444G>A (p.Met148Ile) http://identifiers.org/clinvar/315405 ^@ NM_144599.4(NIPA1):c.*1127C>G http://identifiers.org/clinvar/315355 ^@ NM_144599.4(NIPA1):c.*3707G>C http://identifiers.org/clinvar/323190 ^@ NM_021939.3(FKBP10):c.1098C>T (p.Phe366=) http://identifiers.org/clinvar/315605 ^@ NM_133647.1(SLC12A6):c.*244G>A http://identifiers.org/clinvar/323340 ^@ NM_032387.4(WNK4):c.2474C>T (p.Pro825Leu) http://identifiers.org/clinvar/315655 ^@ NM_005159.4(ACTC1):c.*1513T>C http://identifiers.org/clinvar/323390 ^@ NM_000151.3(G6PC):c.*1552A>T http://identifiers.org/clinvar/315805 ^@ NM_002225.3(IVD):c.*195C>T http://identifiers.org/clinvar/323740 ^@ NM_001193466.1(KANSL1):c.*1287G>T http://identifiers.org/clinvar/323840 ^@ NM_004287.4(GOSR2):c.*1446A>T http://identifiers.org/clinvar/368105 ^@ NM_000132.3(F8):c.*1672G>A http://identifiers.org/clinvar/323990 ^@ NM_000080.3(CHRNE):c.797C>T (p.Ala266Val) http://identifiers.org/clinvar/368305 ^@ NM_006915.2(RP2):c.-26G>T http://identifiers.org/clinvar/368405 ^@ NM_007137.3(ZNF81):c.*455G>A http://identifiers.org/clinvar/368505 ^@ NM_000084.4(CLCN5):c.*2324G>A http://identifiers.org/clinvar/368605 ^@ NM_013444.3(UBQLN2):c.-163G>T http://identifiers.org/clinvar/314605 ^@ NM_004863.3(SPTLC2):c.*3526A>T http://identifiers.org/clinvar/314705 ^@ NM_000369.2(TSHR):c.*245C>T http://identifiers.org/clinvar/314755 ^@ NM_000153.3(GALC):c.450A>T (p.Pro150=) http://identifiers.org/clinvar/314905 ^@ NM_004239.4(TRIP11):c.*891A>G http://identifiers.org/clinvar/324988 ^@ NM_000018.3(ACADVL):c.636C>T (p.Ala212=) http://identifiers.org/clinvar/325088 ^@ NM_207346.2(TSEN54):c.862G>A (p.Val288Ile) http://identifiers.org/clinvar/325238 ^@ NM_199242.2(UNC13D):c.*317C>T http://identifiers.org/clinvar/315155 ^@ NM_139057.3(ADAMTS17):c.*2279G>A http://identifiers.org/clinvar/325338 ^@ NM_004035.6(ACOX1):c.*1977C>T http://identifiers.org/clinvar/315255 ^@ NM_139057.3(ADAMTS17):c.3111C>A (p.Ile1037=) http://identifiers.org/clinvar/325789 ^@ NM_000152.4(GAA):c.2030T>A (p.Leu677Gln) http://identifiers.org/clinvar/325889 ^@ NM_001139.2(ALOX12B):c.528-8C>T http://identifiers.org/clinvar/371910 ^@ NM_004329.2(BMPR1A):c.1167-13T>G http://identifiers.org/clinvar/372010 ^@ NM_006231.3(POLE):c.2027-16A>G http://identifiers.org/clinvar/371860 ^@ NM_007294.3(BRCA1):c.4358-2715C>A http://identifiers.org/clinvar/371810 ^@ NM_000455.4(STK11):c.920+7_920+8delGGinsCA http://identifiers.org/clinvar/371960 ^@ NM_007194.3(CHEK2):c.593-9C>T http://identifiers.org/clinvar/372110 ^@ NM_006412.3(AGPAT2):c.661+2T>G http://identifiers.org/clinvar/372183 ^@ NM_003321.4(TUFM):c.162delC (p.Tyr54Terfs) http://identifiers.org/clinvar/372240 ^@ NM_138773.3(SLC25A46):c.882_885dupTTAC (p.Asn296Leufs) http://identifiers.org/clinvar/373755 ^@ NM_022114.3(PRDM16):c.2780A>C (p.His927Pro) http://identifiers.org/clinvar/373505 ^@ NM_001103.3(ACTN2):c.1442A>G (p.Asp481Gly) http://identifiers.org/clinvar/373205 ^@ NM_003108.3(SOX11):c.1153_1160delGCGGCGGC (p.Ala385Argfs) http://identifiers.org/clinvar/373255 ^@ NM_015120.4(ALMS1):c.6827A>G (p.Lys2276Arg) http://identifiers.org/clinvar/373455 ^@ NM_002977.3(SCN9A):c.1966A>G (p.Lys656Glu) http://identifiers.org/clinvar/373405 ^@ NM_003722.4(TP63):c.1682G>A (p.Cys561Tyr) http://identifiers.org/clinvar/373605 ^@ NM_015120.4(ALMS1):c.11146A>G (p.Lys3716Glu) http://identifiers.org/clinvar/373705 ^@ NM_000258.2(MYL3):c.26A>G (p.Lys9Arg) http://identifiers.org/clinvar/372346 ^@ NM_000094.3(COL7A1):c.6781C>T (p.Arg2261Ter) http://identifiers.org/clinvar/373155 ^@ NM_020732.3(ARID1B):c.769G>T (p.Gly257Ter) http://identifiers.org/clinvar/373355 ^@ NM_024577.3(SH3TC2):c.148C>T (p.Pro50Ser) http://identifiers.org/clinvar/373555 ^@ NM_002471.3(MYH6):c.5077G>A (p.Val1693Met) http://identifiers.org/clinvar/373655 ^@ NM_000834.3(GRIN2B):c.2759G>A (p.Ser920Asn) http://identifiers.org/clinvar/372294 ^@ NM_001171.5(ABCC6):c.1132C>T (p.Gln378Ter) http://identifiers.org/clinvar/373805 ^@ NM_004975.3(KCNB1):c.908G>A (p.Arg303Gln) http://identifiers.org/clinvar/373305 ^@ NM_001083962.1(TCF4):c.1037C>G (p.Ser346Ter) http://identifiers.org/clinvar/373105 ^@ NM_003588.3(CUL4B):c.685A>G (p.Asn229Asp) http://identifiers.org/clinvar/373055 ^@ NM_000044.4(AR):c.2039_2056del18 (p.Ala680_Val685del) http://identifiers.org/clinvar/373855 ^@ NG_005905.2:g.152586_159830del7245ins27 http://identifiers.org/clinvar/374208 ^@ NM_001127207.1(SMARCAL1):c.723C>A (p.Cys241Ter) http://identifiers.org/clinvar/374158 ^@ NM_133433.3(NIPBL):c.6242G>C (p.Gly2081Ala) http://identifiers.org/clinvar/373908 ^@ NM_198578.3(LRRK2):c.5647T>C (p.Phe1883Leu) http://identifiers.org/clinvar/374108 ^@ NM_000267.3(NF1):c.1721+3A>G http://identifiers.org/clinvar/373958 ^@ NM_001042492.2(NF1):c.2709G>A (p.Val903=) http://identifiers.org/clinvar/374058 ^@ NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) http://identifiers.org/clinvar/374008 ^@ NM_001098.2(ACO2):c.76C>T (p.Leu26=) http://identifiers.org/clinvar/374397 ^@ NM_016180.4(SLC45A2):c.163dupT (p.Tyr55Leufs) http://identifiers.org/clinvar/374262 ^@ NM_000093.4(COL5A1):c.3762delT (p.Gly1255Alafs) http://identifiers.org/clinvar/374332 ^@ NC_000023.10:g.(31838467_31853996)_(31855256_31867499)del http://identifiers.org/clinvar/374810 ^@ NM_022970.3(FGFR2):c.833_834delGCinsTA (p.Cys278Leu) http://identifiers.org/clinvar/374860 ^@ NM_005477.2(HCN4):c.1441T>C (p.Tyr481His) http://identifiers.org/clinvar/391184 ^@ NM_001256850.1(TTN):c.8418C>T (p.Ala2806=) http://identifiers.org/clinvar/388545 ^@ NM_000179.2(MSH6):c.-7T>A http://identifiers.org/clinvar/391834 ^@ NM_000145.3(FSHR):c.803G>T (p.Ser268Ile) http://identifiers.org/clinvar/383014 ^@ NM_000179.2(MSH6):c.2229G>A (p.Leu743=) http://identifiers.org/clinvar/389445 ^@ NM_003494.3(DYSF):c.5292C>T (p.His1764=) http://identifiers.org/clinvar/389295 ^@ NM_024334.2(TMEM43):c.630G>A (p.Lys210=) http://identifiers.org/clinvar/385406 ^@ NM_020166.4(MCCC1):c.1341A>G (p.Ala447=) http://identifiers.org/clinvar/388145 ^@ NM_006371.4(CRTAP):c.516A>G (p.Leu172=) http://identifiers.org/clinvar/388495 ^@ NM_001029883.2(C2orf71):c.2864G>A (p.Arg955Gln) http://identifiers.org/clinvar/388895 ^@ NM_018297.3(NGLY1):c.131+11A>G http://identifiers.org/clinvar/383114 ^@ NM_004393.5(DAG1):c.2271C>T (p.Ala757=) http://identifiers.org/clinvar/390384 ^@ NM_004656.3(BAP1):c.1890+11G>C http://identifiers.org/clinvar/384416 ^@ NM_032446.2(MEGF10):c.-7G>A http://identifiers.org/clinvar/379818 ^@ NM_001182.4(ALDH7A1):c.1317+20G>C http://identifiers.org/clinvar/379869 ^@ NM_020117.10(LARS):c.3409G>A (p.Glu1137Lys) http://identifiers.org/clinvar/382764 ^@ NM_005340.6(HINT1):c.*13G>T http://identifiers.org/clinvar/382112 ^@ NM_002887.3(RARS):c.1410A>T (p.Leu470=) http://identifiers.org/clinvar/382564 ^@ NM_198056.2(SCN5A):c.4893C>A (p.Gly1631=) http://identifiers.org/clinvar/390934 ^@ NM_006514.3(SCN10A):c.2382G>A (p.Leu794=) http://identifiers.org/clinvar/385656 ^@ NM_004168.3(SDHA):c.456+9C>T http://identifiers.org/clinvar/382964 ^@ NM_002495.3(NDUFS4):c.-6A>C http://identifiers.org/clinvar/389095 ^@ NM_017651.4(AHI1):c.2714G>C (p.Cys905Ser) http://identifiers.org/clinvar/388695 ^@ NM_000232.4(SGCB):c.-21G>C http://identifiers.org/clinvar/384567 ^@ NM_018475.4(TMEM165):c.899-17T>A http://identifiers.org/clinvar/388245 ^@ NM_000048.3(ASL):c.927G>T (p.Gly309=) http://identifiers.org/clinvar/379668 ^@ NM_014141.5(CNTNAP2):c.98-20T>G http://identifiers.org/clinvar/393023 ^@ NM_001018116.2(CAVIN4):c.344A>G (p.Lys115Arg) http://identifiers.org/clinvar/383315 ^@ NM_014244.4(ADAMTS2):c.2558C>G (p.Ser853Cys) http://identifiers.org/clinvar/380019 ^@ NM_013391.3(DMGDH):c.372T>G (p.Gly124=) http://identifiers.org/clinvar/383515 ^@ NM_014251.2(SLC25A13):c.212+16A>C http://identifiers.org/clinvar/385506 ^@ NM_000445.4(PLEC):c.4125+16C>T http://identifiers.org/clinvar/393223 ^@ NM_017651.4(AHI1):c.1205C>T (p.Pro402Leu) http://identifiers.org/clinvar/386156 ^@ NM_004408.3(DNM1):c.1423-14A>G http://identifiers.org/clinvar/382664 ^@ NM_004408.3(DNM1):c.1906-6T>C http://identifiers.org/clinvar/385356 ^@ NM_020822.2(KCNT1):c.3239G>T (p.Gly1080Val) http://identifiers.org/clinvar/380420 ^@ NM_017617.4(NOTCH1):c.7369C>G (p.Leu2457Val) http://identifiers.org/clinvar/133048 ^@ NM_000540.2(RYR1):c.13470G>A (p.Glu4490=) http://identifiers.org/clinvar/133098 ^@ NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) http://identifiers.org/clinvar/133148 ^@ NM_000540.2(RYR1):c.533A>T (p.Tyr178Phe) http://identifiers.org/clinvar/133198 ^@ NM_000540.2(RYR1):c.7317G>C (p.Glu2439Asp) http://identifiers.org/clinvar/133249 ^@ NM_000277.1:c.664-665delGA http://identifiers.org/clinvar/133328 ^@ NM_001029882.3(AHDC1):c.2547delC (p.Ser850Profs) http://identifiers.org/clinvar/133390 ^@ NM_003073.4(SMARCB1):c.500+114A>G http://identifiers.org/clinvar/133440 ^@ NM_007313.2(ABL1):c.2486C>T (p.Pro829Leu) http://identifiers.org/clinvar/133490 ^@ NM_152424.3(AMER1):c.3127A>G (p.Ser1043Gly) http://identifiers.org/clinvar/133541 ^@ NM_015071.5(ARHGAP26):c.1245delTinsGTGGGG (p.Val416Trpfs) http://identifiers.org/clinvar/133591 ^@ NM_015338.5(ASXL1):c.1817G>A (p.Arg606Gln) http://identifiers.org/clinvar/133641 ^@ NM_000051.3(ATM):c.8734A>G (p.Arg2912Gly) http://identifiers.org/clinvar/133691 ^@ NM_001123383.1(BCOR):c.5132A>C (p.His1711Pro) http://identifiers.org/clinvar/133743 ^@ NM_000059.3(BRCA2):c.340C>T (p.His114Tyr) http://identifiers.org/clinvar/133795 ^@ NM_032415.5(CARD11):c.2120G>A (p.Arg707His) http://identifiers.org/clinvar/135480 ^@ NM_004628.4(XPC):c.736C>T (p.Pro246Ser) http://identifiers.org/clinvar/135530 ^@ NM_000400.3(ERCC2):c.1119-116C>G http://identifiers.org/clinvar/135594 ^@ NM_002136.3(HNRNPA1):c.817T>C (p.Phe273Leu) http://identifiers.org/clinvar/135656 ^@ NM_000080.3(CHRNE):c.421C>A (p.Pro141Thr) http://identifiers.org/clinvar/135716 ^@ NM_000038.5(APC):c.6985A>G (p.Ile2329Val) http://identifiers.org/clinvar/135767 ^@ NM_000051.3(ATM):c.6315G>C (p.Arg2105Ser) http://identifiers.org/clinvar/135825 ^@ NM_000075.3(CDK4):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/135875 ^@ NM_000264.3(PTCH1):c.2019C>T (p.His673=) http://identifiers.org/clinvar/135925 ^@ NM_000455.4(STK11):c.663G>A (p.Pro221=) http://identifiers.org/clinvar/135976 ^@ NM_001127500.2(MET):c.713T>C (p.Leu238Ser) http://identifiers.org/clinvar/136027 ^@ NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) http://identifiers.org/clinvar/136078 ^@ NM_007294.3(BRCA1):c.1196A>G (p.His399Arg) http://identifiers.org/clinvar/136128 ^@ NM_024675.3(PALB2):c.12T>C (p.Pro4=) http://identifiers.org/clinvar/136188 ^@ NM_130838.1(UBE3A):c.199_202dupAAAG (p.Gly68Glufs) http://identifiers.org/clinvar/136239 ^@ NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) http://identifiers.org/clinvar/136290 ^@ NM_001106.3(ACVR2B):c.1075-5C>T http://identifiers.org/clinvar/136341 ^@ NM_005751.4(AKAP9):c.8665C>T (p.Leu2889=) http://identifiers.org/clinvar/136392 ^@ NM_001148.4(ANK2):c.3963T>C (p.Ile1321=) http://identifiers.org/clinvar/184191 ^@ NM_007294.3(BRCA1):c.1401G>A (p.Lys467=) http://identifiers.org/clinvar/183940 ^@ NM_032043.2(BRIP1):c.1071A>G (p.Glu357=) http://identifiers.org/clinvar/184441 ^@ NM_032043.2(BRIP1):c.795G>A (p.Arg265=) http://identifiers.org/clinvar/183991 ^@ NM_032043.2(BRIP1):c.69G>A (p.Pro23=) http://identifiers.org/clinvar/183740 ^@ NM_000546.5(TP53):c.1149C>T (p.Leu383=) http://identifiers.org/clinvar/183890 ^@ NM_000455.4(STK11):c.426C>T (p.Ser142=) http://identifiers.org/clinvar/183840 ^@ NM_000455.4(STK11):c.777C>T (p.Asn259=) http://identifiers.org/clinvar/184691 ^@ NM_000455.4(STK11):c.1041G>A (p.Ala347=) http://identifiers.org/clinvar/186080 ^@ NM_007194.3(CHEK2):c.1214A>G (p.Asn405Ser) http://identifiers.org/clinvar/186130 ^@ NM_007194.3(CHEK2):c.592+4A>G http://identifiers.org/clinvar/187954 ^@ NM_004409.4(DMPK):c.*224_*226[303] http://identifiers.org/clinvar/188004 ^@ NM_004409.4(DMPK):c.*224_*226[56] http://identifiers.org/clinvar/188474 ^@ NM_004415.3(DSP):c.8068C>T (p.Pro2690Ser) http://identifiers.org/clinvar/188574 ^@ NM_000256.3(MYBPC3):c.3017C>A (p.Thr1006Asn) http://identifiers.org/clinvar/188524 ^@ NM_000256.3(MYBPC3):c.339C>T (p.Ala113=) http://identifiers.org/clinvar/188424 ^@ NM_000059.3(BRCA2):c.516+21A>T http://identifiers.org/clinvar/188624 ^@ NM_000257.3(MYH7):c.3345C>T (p.Ile1115=) http://identifiers.org/clinvar/188674 ^@ NM_000363.4(TNNI3):c.439G>C (p.Val147Leu) http://identifiers.org/clinvar/188774 ^@ NM_000030.2(AGXT):c.777-1G>C http://identifiers.org/clinvar/188875 ^@ NM_174878.2(CLRN1):c.502dupA (p.Ile168Asnfs) http://identifiers.org/clinvar/188975 ^@ NM_000288.3(PEX7):c.188+1G>C http://identifiers.org/clinvar/189076 ^@ NM_000288.3(PEX7):c.618G>A (p.Trp206Ter) http://identifiers.org/clinvar/189026 ^@ NM_138694.3(PKHD1):c.1480C>T (p.Arg494Ter) http://identifiers.org/clinvar/188824 ^@ NM_005609.3(PYGM):c.808C>T (p.Arg270Ter) http://identifiers.org/clinvar/189176 ^@ NM_004004.5(GJB2):c.230G>A (p.Trp77Ter) http://identifiers.org/clinvar/188925 ^@ NM_004004.5(GJB2):c.119C>G (p.Ala40Gly) http://identifiers.org/clinvar/188724 ^@ NM_002225.3(IVD):c.466-3_466-2delCAinsGG http://identifiers.org/clinvar/189126 ^@ NM_000520.5(HEXA):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/189243 ^@ NM_000231.2(SGCG):c.525delT (p.Phe175Leufs) http://identifiers.org/clinvar/189295 ^@ NM_004771.3(MMP20):c.611A>G (p.His204Arg) http://identifiers.org/clinvar/189357 ^@ NM_030753.4(WNT3):c.638G>A (p.Gly213Asp) http://identifiers.org/clinvar/189444 ^@ NM_000314.6(PTEN):c.126_128dupTGA (p.Leu42_Glu43insAsp) http://identifiers.org/clinvar/189514 ^@ NM_001103.3(ACTN2):c.332G>T (p.Gly111Val) http://identifiers.org/clinvar/189616 ^@ NM_005249.4(FOXG1):c.577G>A (p.Ala193Thr) http://identifiers.org/clinvar/189666 ^@ NM_004992.3(MECP2):c.1164_1194del31 (p.Pro391Alafs) http://identifiers.org/clinvar/189716 ^@ NM_004992.3(MECP2):c.731_1166del436 (p.Gln244Leufs) http://identifiers.org/clinvar/189766 ^@ NM_001110792.1(MECP2):c.-27_-26delAGinsTT http://identifiers.org/clinvar/189566 ^@ NM_003159.2(CDKL5):c.1784dupG (p.Leu596Thrfs) http://identifiers.org/clinvar/189850 ^@ NM_001165963.1(SCN1A):c.5250_5251insGG (p.Ser1751Glyfs) http://identifiers.org/clinvar/227952 ^@ NM_000441.1(SLC26A4):c.2007C>T (p.Asp669=) http://identifiers.org/clinvar/229191 ^@ NM_001134363.2(RBM20):c.2183_2185delAAG (p.Glu728del) http://identifiers.org/clinvar/229291 ^@ NM_005422.2(TECTA):c.1621G>A (p.Val541Met) http://identifiers.org/clinvar/229091 ^@ NM_001277269.1(OTOG):c.4183C>T (p.Arg1395Cys) http://identifiers.org/clinvar/227801 ^@ NM_001277269.1(OTOG):c.7926C>T (p.Ser2642=) http://identifiers.org/clinvar/228841 ^@ NM_001145308.4(LRTOMT):c.53A>C (p.Asp18Ala) http://identifiers.org/clinvar/227851 ^@ NM_004572.3(PKP2):c.795G>T (p.Gly265=) http://identifiers.org/clinvar/228891 ^@ NM_002471.3(MYH6):c.3857A>T (p.Asn1286Ile) http://identifiers.org/clinvar/229341 ^@ NM_001018005.1(TPM1):c.364G>A (p.Glu122Lys) http://identifiers.org/clinvar/227751 ^@ NM_144672.3(OTOA):c.981-125T>C http://identifiers.org/clinvar/228691 ^@ NM_144997.5(FLCN):c.1177-5_1177-3delCTC http://identifiers.org/clinvar/227651 ^@ NM_016239.3(MYO15A):c.7431G>A (p.Gln2477=) http://identifiers.org/clinvar/228941 ^@ NM_016239.3(MYO15A):c.10076C>T (p.Pro3359Leu) http://identifiers.org/clinvar/227701 ^@ NM_003803.3(MYOM1):c.3539A>G (p.Asp1180Gly) http://identifiers.org/clinvar/227601 ^@ NM_002473.5(MYH9):c.1587C>T (p.Asp529=) http://identifiers.org/clinvar/227551 ^@ NC_012920.1:m.979C>T http://identifiers.org/clinvar/234659 ^@ NM_014845.5(FIG4):c.2439_2441delAGA (p.Glu813del) http://identifiers.org/clinvar/234759 ^@ NM_000535.6(PMS2):c.2522G>A (p.Trp841Ter) http://identifiers.org/clinvar/234508 ^@ NM_000535.6(PMS2):c.631C>T (p.Arg211Ter) http://identifiers.org/clinvar/234709 ^@ NM_006415.3(SPTLC1):c.208G>T (p.Val70Phe) http://identifiers.org/clinvar/234399 ^@ NM_000314.6(PTEN):c.-1047C>A http://identifiers.org/clinvar/234457 ^@ NM_000314.6(PTEN):c.-859A>C http://identifiers.org/clinvar/234809 ^@ NM_004655.3(AXIN2):c.1046T>C (p.Leu349Pro) http://identifiers.org/clinvar/234337 ^@ NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) http://identifiers.org/clinvar/234609 ^@ NM_001005360.2(DNM2):c.2576_2581delCCATTA (p.Thr859_Ile860del) http://identifiers.org/clinvar/234285 ^@ NM_007194.3(CHEK2):c.1376-12T>C http://identifiers.org/clinvar/234559 ^@ NM_007194.3(CHEK2):c.526G>C (p.Gly176Arg) http://identifiers.org/clinvar/234860 ^@ NM_002764.3(PRPS1):c.247A>T (p.Ser83Cys) http://identifiers.org/clinvar/230393 ^@ NM_000465.3(BARD1):c.1993G>A (p.Glu665Lys) http://identifiers.org/clinvar/231482 ^@ NM_000251.2(MSH2):c.2102A>C (p.Glu701Ala) http://identifiers.org/clinvar/232282 ^@ NM_000179.2(MSH6):c.495T>C (p.Phe165=) http://identifiers.org/clinvar/232532 ^@ NM_000179.2(MSH6):c.3230C>A (p.Pro1077Gln) http://identifiers.org/clinvar/233925 ^@ NM_000179.2(MSH6):c.3801+3A>G http://identifiers.org/clinvar/232032 ^@ NM_000249.3(MLH1):c.-332C>T http://identifiers.org/clinvar/234075 ^@ NM_000249.3(MLH1):c.225T>C (p.Ile75=) http://identifiers.org/clinvar/234125 ^@ NM_000249.3(MLH1):c.1647T>C (p.Leu549=) http://identifiers.org/clinvar/229743 ^@ NM_000038.5(APC):c.1538T>C (p.Val513Ala) http://identifiers.org/clinvar/264474 ^@ NM_001018005.1(TPM1):c.250G>A (p.Asp84Asn) http://identifiers.org/clinvar/264624 ^@ NM_005902.3(SMAD3):c.48G>A (p.Leu16=) http://identifiers.org/clinvar/263516 ^@ NM_002474.2(MYH11):c.1115T>C (p.Met372Thr) http://identifiers.org/clinvar/264574 ^@ NM_001943.4(DSG2):c.3266G>A (p.Gly1089Asp) http://identifiers.org/clinvar/264682 ^@ NM_006502.2(POLH):c.1075-?_1244+?del http://identifiers.org/clinvar/264739 ^@ NM_001242896.1(DEPDC5):c.3444delA (p.Ile1148MetfsTer24) http://identifiers.org/clinvar/264894 ^@ NM_000059.3(BRCA2):c.7806-2003C>T http://identifiers.org/clinvar/264944 ^@ NM_000059.3(BRCA2):c.8487+82G>A http://identifiers.org/clinvar/264794 ^@ NM_007294.3(BRCA1):c.5278-464G>A http://identifiers.org/clinvar/264844 ^@ NM_007294.3(BRCA1):c.4358-1142A>G http://identifiers.org/clinvar/265099 ^@ NM_001277115.1(DNAH11):c.5924+1G>C http://identifiers.org/clinvar/264996 ^@ NM_001605.2(AARS):c.2218G>C (p.Val740Leu) http://identifiers.org/clinvar/265049 ^@ NM_007294.3(BRCA1):c.3106T>C (p.Phe1036Leu) http://identifiers.org/clinvar/266715 ^@ NM_000059.3(BRCA2):c.271_272delTA (p.Tyr91Profs) http://identifiers.org/clinvar/266765 ^@ NM_000059.3(BRCA2):c.3685_3686delGT (p.Val1229Phefs) http://identifiers.org/clinvar/266815 ^@ NM_000059.3(BRCA2):c.4467_4474delAATACTGAinsTGTTTTT (p.Lys1489Asnfs) http://identifiers.org/clinvar/266865 ^@ NM_000059.3(BRCA2):c.5219delT (p.Leu1740Terfs) http://identifiers.org/clinvar/266915 ^@ NM_000059.3(BRCA2):c.6016_6019delAGTA (p.Ser2006Profs) http://identifiers.org/clinvar/266965 ^@ NM_000059.3(BRCA2):c.6580dupA (p.Ile2194Asnfs) http://identifiers.org/clinvar/267015 ^@ NM_000059.3(BRCA2):c.7501C>T (p.Gln2501Ter) http://identifiers.org/clinvar/267065 ^@ NM_000059.3(BRCA2):c.8290dupG (p.Ala2764Glyfs) http://identifiers.org/clinvar/267115 ^@ NM_000059.3(BRCA2):c.8915T>A (p.Leu2972Ter) http://identifiers.org/clinvar/267165 ^@ NM_000059.3(BRCA2):c.9537_9544delGCTTATGC (p.Leu3180Tyrfs) http://identifiers.org/clinvar/267235 ^@ NM_015247.2(CYLD):c.1537dupT (p.Cys513Leufs) http://identifiers.org/clinvar/267299 ^@ NM_032776.2(JMJD1C):c.488C>T (p.Pro163Leu) http://identifiers.org/clinvar/267382 ^@ c.8264_8268del5 http://identifiers.org/clinvar/267436 ^@ NM_017780.3(CHD7):c.6148C>T (p.Arg2050Ter) http://identifiers.org/clinvar/267672 ^@ NM_000059.3(BRCA2):c.7008-?_8331+?del http://identifiers.org/clinvar/267722 ^@ NM_000059.3(BRCA2):c.9257-2A>G http://identifiers.org/clinvar/267572 ^@ NM_007294.3(BRCA1):c.5075-?_5193+?del http://identifiers.org/clinvar/267622 ^@ NM_007294.3(BRCA1):c.81-?_4185+?del http://identifiers.org/clinvar/267522 ^@ NM_007294.3(BRCA1):c.3388_3408del21ins16 (p.?) http://identifiers.org/clinvar/267801 ^@ 46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2>2qter;8qter>8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)dn http://identifiers.org/clinvar/267852 ^@ 46;XY;t(2;14)(p23;q13)dn http://identifiers.org/clinvar/267902 ^@ 46;XY;t(3;5)(q24;p15.3)dn http://identifiers.org/clinvar/267952 ^@ 46;XX;t(9;16)(q22.3;p11.2)dn http://identifiers.org/clinvar/268002 ^@ 46;XY;t(1;5)(p34.1;q13.1) http://identifiers.org/clinvar/268052 ^@ NM_080675.3(SUN5):c.851C>G (p.Ser284Ter) http://identifiers.org/clinvar/268118 ^@ NM_144772.2(NAXE):c.516+1G>A http://identifiers.org/clinvar/268186 ^@ NM_000271.4(NPC1):c.1547G>A (p.Cys516Tyr) http://identifiers.org/clinvar/291044 ^@ NM_003722.4(TP63):c.1653-9C>T http://identifiers.org/clinvar/291094 ^@ NM_015909.3(NBAS):c.4228A>G (p.Thr1410Ala) http://identifiers.org/clinvar/291144 ^@ NM_001278182.1(EOMES):c.380_381insCGCCGC (p.Ala130_Thr131insAlaAla) http://identifiers.org/clinvar/291195 ^@ NM_000271.4(NPC1):c.956-7C>G http://identifiers.org/clinvar/291245 ^@ NM_015102.4(NPHP4):c.2032G>T (p.Ala678Ser) http://identifiers.org/clinvar/291306 ^@ NM_000179.2(MSH6):c.3966dupA (p.Phe1323Ilefs) http://identifiers.org/clinvar/291510 ^@ NM_015074.3(KIF1B):c.1020-5delT http://identifiers.org/clinvar/291560 ^@ NM_001854.3(COL11A1):c.-231dupC http://identifiers.org/clinvar/292912 ^@ NM_007272.2(CTRC):c.638A>G (p.Asn213Ser) http://identifiers.org/clinvar/293412 ^@ NM_004431.4(EPHA2):c.2239G>A (p.Val747Ile) http://identifiers.org/clinvar/293162 ^@ NM_000702.3(ATP1A2):c.*1095T>A http://identifiers.org/clinvar/293562 ^@ NM_000130.4(F5):c.*441C>T http://identifiers.org/clinvar/293762 ^@ NM_022089.3(ATP13A2):c.*130C>T http://identifiers.org/clinvar/293912 ^@ NM_002065.6(GLUL):c.*1469_*1470delGT http://identifiers.org/clinvar/293712 ^@ NM_000261.1(MYOC):c.871G>A (p.Val291Ile) http://identifiers.org/clinvar/292962 ^@ NM_003126.2(SPTA1):c.5834-15G>A http://identifiers.org/clinvar/294012 ^@ NM_005562.2(LAMC2):c.2736T>C (p.Asn912=) http://identifiers.org/clinvar/293862 ^@ NM_033343.3(LHX4):c.248+13G>A http://identifiers.org/clinvar/293012 ^@ NM_003126.2(SPTA1):c.2506A>G (p.Arg836Gly) http://identifiers.org/clinvar/293062 ^@ NM_003126.2(SPTA1):c.10T>C (p.Phe4Leu) http://identifiers.org/clinvar/294062 ^@ NM_000433.3(NCF2):c.*517dupT http://identifiers.org/clinvar/293112 ^@ NM_002241.4(KCNJ10):c.*362A>T http://identifiers.org/clinvar/293212 ^@ NM_002857.3(PEX19):c.*998G>A http://identifiers.org/clinvar/294112 ^@ NM_031935.2(HMCN1):c.1973A>G (p.Tyr658Cys) http://identifiers.org/clinvar/293262 ^@ NM_004550.4(NDUFS2):c.-388G>T http://identifiers.org/clinvar/294212 ^@ NM_031935.2(HMCN1):c.9522T>A (p.Asp3174Glu) http://identifiers.org/clinvar/293362 ^@ NM_003001.3(SDHC):c.*1918G>A http://identifiers.org/clinvar/293312 ^@ NM_000530.7(MPZ):c.515T>C (p.Leu172Pro) http://identifiers.org/clinvar/294262 ^@ NM_031935.2(HMCN1):c.13310A>G (p.Gln4437Arg) http://identifiers.org/clinvar/293462 ^@ NM_005149.2(TBX19):c.603+47_603+48dupGT http://identifiers.org/clinvar/293512 ^@ NM_006996.2(SLC19A2):c.*1493G>A http://identifiers.org/clinvar/293612 ^@ NM_000130.4(F5):c.3261C>G (p.Pro1087=) http://identifiers.org/clinvar/293662 ^@ NM_152281.2(GORAB):c.1016C>T (p.Ala339Val) http://identifiers.org/clinvar/293812 ^@ NM_018122.4(DARS2):c.-522G>C http://identifiers.org/clinvar/293962 ^@ NM_002065.6(GLUL):c.-399G>C http://identifiers.org/clinvar/335857 ^@ NM_014946.3(SPAST):c.*1231C>T http://identifiers.org/clinvar/336257 ^@ NM_001430.4(EPAS1):c.1035-6delC http://identifiers.org/clinvar/336307 ^@ NM_001430.4(EPAS1):c.*1207A>C http://identifiers.org/clinvar/344343 ^@ NM_003907.2(EIF2B5):c.*360_*361delAG http://identifiers.org/clinvar/344493 ^@ NM_015560.2(OPA1):c.*376A>G http://identifiers.org/clinvar/336057 ^@ NM_022436.2(ABCG5):c.27C>T (p.Pro9=) http://identifiers.org/clinvar/336107 ^@ NM_133259.3(LRPPRC):c.*1911G>A http://identifiers.org/clinvar/344643 ^@ NM_000461.4(THRB):c.-115+5G>C http://identifiers.org/clinvar/336157 ^@ NM_133259.3(LRPPRC):c.1863T>G (p.Asn621Lys) http://identifiers.org/clinvar/344743 ^@ NM_015141.3(GPD1L):c.*793G>A http://identifiers.org/clinvar/344793 ^@ NM_000404.3(GLB1):c.553-8A>G http://identifiers.org/clinvar/336664 ^@ NM_002618.3(PEX13):c.260A>G (p.Asn87Ser) http://identifiers.org/clinvar/344893 ^@ NM_006371.4(CRTAP):c.*4809A>G http://identifiers.org/clinvar/344993 ^@ NM_001106.3(ACVR2B):c.*4890T>C http://identifiers.org/clinvar/336564 ^@ NM_001135659.2(NRXN1):c.-421A>C http://identifiers.org/clinvar/345343 ^@ NM_020208.3(SLC6A20):c.*3436C>G http://identifiers.org/clinvar/336764 ^@ NM_015910.5(WDPCP):c.1322T>C (p.Met441Thr) http://identifiers.org/clinvar/344593 ^@ NM_000461.4(THRB):c.*2346T>C http://identifiers.org/clinvar/344693 ^@ NM_003242.5(TGFBR2):c.*1211A>T http://identifiers.org/clinvar/336914 ^@ NM_001004311.3(FIGLA):c.84C>A (p.Asp28Glu) http://identifiers.org/clinvar/336964 ^@ NM_003494.3(DYSF):c.3107C>T (p.Thr1036Ile) http://identifiers.org/clinvar/337114 ^@ NM_006302.2(MOGS):c.85C>G (p.Arg29Gly) http://identifiers.org/clinvar/345143 ^@ NM_017875.2(SLC25A38):c.12C>T (p.Asn4=) http://identifiers.org/clinvar/337514 ^@ NM_017849.3(TMEM127):c.-242G>A http://identifiers.org/clinvar/345293 ^@ NM_182760.3(SUMF1):c.*805C>T http://identifiers.org/clinvar/337564 ^@ NM_014014.4(SNRNP200):c.631-4A>T http://identifiers.org/clinvar/337414 ^@ NM_004836.6(EIF2AK3):c.1332G>A (p.Leu444=) http://identifiers.org/clinvar/346432 ^@ NM_198859.3(PRICKLE2):c.*2980_*2981dupCA http://identifiers.org/clinvar/346482 ^@ NM_198859.3(PRICKLE2):c.-271A>G http://identifiers.org/clinvar/345393 ^@ NM_020208.3(SLC6A20):c.1747C>T (p.Leu583Phe) http://identifiers.org/clinvar/337614 ^@ NM_020184.3(CNNM4):c.*1754G>A http://identifiers.org/clinvar/342254 ^@ NM_033084.4(FANCD2):c.33G>A (p.Glu11=) http://identifiers.org/clinvar/345493 ^@ NM_024513.3(FYCO1):c.4394C>T (p.Thr1465Met) http://identifiers.org/clinvar/342404 ^@ NM_000551.3(VHL):c.639T>C (p.Asp213=) http://identifiers.org/clinvar/346882 ^@ NM_000313.3(PROS1):c.1377A>G (p.Gly459=) http://identifiers.org/clinvar/342554 ^@ NM_198196.2(CD96):c.*396C>T http://identifiers.org/clinvar/342604 ^@ NM_000796.5(DRD3):c.-38A>C http://identifiers.org/clinvar/347182 ^@ NM_198506.4(LRIT3):c.505C>A (p.Pro169Thr) http://identifiers.org/clinvar/342704 ^@ NM_020754.3(ARHGAP31):c.*1692G>T http://identifiers.org/clinvar/347282 ^@ NM_001963.5(EGF):c.*1222A>G http://identifiers.org/clinvar/342854 ^@ NM_053025.3(MYLK):c.*334_*335insAAATGC http://identifiers.org/clinvar/347482 ^@ NM_176824.2(BBS7):c.1505A>G (p.His502Arg) http://identifiers.org/clinvar/347532 ^@ NM_152778.2(MFSD8):c.*695A>G http://identifiers.org/clinvar/347582 ^@ NM_031296.2(RAB33B):c.*1303C>T http://identifiers.org/clinvar/342904 ^@ NM_053025.3(MYLK):c.559C>T (p.Arg187Trp) http://identifiers.org/clinvar/347632 ^@ NM_172250.2(MMAA):c.*1897_*1901delCTGTT http://identifiers.org/clinvar/347682 ^@ NM_000901.4(NR3C2):c.*1840_*1843delATTA http://identifiers.org/clinvar/347732 ^@ NM_000901.4(NR3C2):c.1398T>C (p.Tyr466=) http://identifiers.org/clinvar/347932 ^@ NM_000824.4(GLRB):c.*160G>A http://identifiers.org/clinvar/347982 ^@ NM_006017.2(PROM1):c.1982T>C (p.Leu661Ser) http://identifiers.org/clinvar/346582 ^@ NM_032682.5(FOXP1):c.*2757dupA http://identifiers.org/clinvar/346932 ^@ NM_182896.2(ARL13B):c.*2141T>C http://identifiers.org/clinvar/353670 ^@ NM_000436.3(OXCT1):c.-54G>A http://identifiers.org/clinvar/353770 ^@ NM_002203.3(ITGA2):c.2568G>A (p.Leu856=) http://identifiers.org/clinvar/362137 ^@ NM_000497.3(CYP11B1):c.*471A>C http://identifiers.org/clinvar/358399 ^@ NM_005045.3(RELN):c.4937-15A>T http://identifiers.org/clinvar/362387 ^@ NM_177924.4(ASAH1):c.-6A>G http://identifiers.org/clinvar/362437 ^@ NM_000237.2(LPL):c.*1159C>T http://identifiers.org/clinvar/362937 ^@ NM_003816.2(ADAM9):c.2069-4C>A http://identifiers.org/clinvar/354659 ^@ NM_000439.4(PCSK1):c.-147C>G http://identifiers.org/clinvar/354809 ^@ NM_007214.4(SEC63):c.*3772G>A http://identifiers.org/clinvar/354759 ^@ NM_020381.3(PDSS2):c.*726A>G http://identifiers.org/clinvar/354859 ^@ NM_007214.4(SEC63):c.*1926_*1931delAAAAAA http://identifiers.org/clinvar/359388 ^@ NM_022458.3(LMBR1):c.*2066G>C http://identifiers.org/clinvar/354909 ^@ NM_007214.4(SEC63):c.828+13T>C http://identifiers.org/clinvar/355160 ^@ NM_000165.4(GJA1):c.456G>A (p.Leu152=) http://identifiers.org/clinvar/355110 ^@ NM_000493.3(COL10A1):c.212G>A (p.Arg71Gln) http://identifiers.org/clinvar/359788 ^@ NM_032581.3(FAM126A):c.-202C>T http://identifiers.org/clinvar/359888 ^@ NM_018947.5(CYCS):c.*3495G>T http://identifiers.org/clinvar/359938 ^@ NM_018947.5(CYCS):c.147C>T (p.Tyr49=) http://identifiers.org/clinvar/355360 ^@ NM_006208.2(ENPP1):c.*389G>A http://identifiers.org/clinvar/359988 ^@ NM_006735.3(HOXA2):c.-193T>C http://identifiers.org/clinvar/355410 ^@ NM_006208.2(ENPP1):c.*3017C>T http://identifiers.org/clinvar/360038 ^@ NM_000823.3(GHRHR):c.*51C>T http://identifiers.org/clinvar/355460 ^@ NM_172105.3(EYA4):c.*1867C>T http://identifiers.org/clinvar/360388 ^@ NM_014855.2(AP5Z1):c.*1687T>C http://identifiers.org/clinvar/360538 ^@ NM_004577.3(PSPH):c.-715T>C http://identifiers.org/clinvar/360838 ^@ NM_005751.4(AKAP9):c.7556A>G (p.Tyr2519Cys) http://identifiers.org/clinvar/303268 ^@ NM_022370.3(ROBO3):c.3300G>A (p.Pro1100=) http://identifiers.org/clinvar/303368 ^@ NM_145014.2(HYLS1):c.*262A>C http://identifiers.org/clinvar/303468 ^@ NM_016952.4(CDON):c.*1216G>A http://identifiers.org/clinvar/303668 ^@ NM_000890.3(KCNJ5):c.*1338delC http://identifiers.org/clinvar/367655 ^@ NM_000264.3(PTCH1):c.*748_*749insACTT http://identifiers.org/clinvar/303768 ^@ NM_000352.4(ABCC8):c.2993G>C (p.Arg998Pro) http://identifiers.org/clinvar/311866 ^@ NM_001127217.2(SMAD9):c.*991C>T http://identifiers.org/clinvar/312066 ^@ NM_207361.5(FREM2):c.*2159G>A http://identifiers.org/clinvar/312416 ^@ NM_001004127.2(ALG11):c.1208-6T>C http://identifiers.org/clinvar/298790 ^@ NM_001134363.2(RBM20):c.1002A>G (p.Thr334=) http://identifiers.org/clinvar/298840 ^@ NM_001134363.2(RBM20):c.*2202C>T http://identifiers.org/clinvar/312716 ^@ NM_022489.3(INF2):c.*136C>T http://identifiers.org/clinvar/298590 ^@ NM_016169.3(SUFU):c.*1451C>T http://identifiers.org/clinvar/298990 ^@ NM_000141.4(FGFR2):c.*324A>G http://identifiers.org/clinvar/298690 ^@ NM_000494.3(COL17A1):c.3825C>A (p.Pro1275=) http://identifiers.org/clinvar/299490 ^@ NM_001081.3(CUBN):c.3417A>G (p.Leu1139=) http://identifiers.org/clinvar/315005 ^@ NM_000295.4(SERPINA1):c.*1195G>A http://identifiers.org/clinvar/315055 ^@ NM_177438.2(DICER1):c.*3185G>T http://identifiers.org/clinvar/306093 ^@ NM_001235.3(SERPINH1):c.-189G>A http://identifiers.org/clinvar/315305 ^@ NM_139057.3(ADAMTS17):c.1008G>A (p.Val336=) http://identifiers.org/clinvar/306143 ^@ NM_006755.1(TALDO1):c.*12G>A http://identifiers.org/clinvar/300479 ^@ NM_022124.5(CDH23):c.10010T>C (p.Leu3337Pro) http://identifiers.org/clinvar/315505 ^@ NM_002420.5(TRPM1):c.2712C>T (p.Leu904=) http://identifiers.org/clinvar/315705 ^@ NM_005159.4(ACTC1):c.809-14_809-13dupTG http://identifiers.org/clinvar/300729 ^@ NM_016065.3(MRPS16):c.-120_-118delCGG http://identifiers.org/clinvar/300779 ^@ NM_002658.4(PLAU):c.*935A>G http://identifiers.org/clinvar/309722 ^@ NM_015665.5(AAAS):c.1515T>C (p.Pro505=) http://identifiers.org/clinvar/310122 ^@ NM_001038.5(SCNN1A):c.*633G>T http://identifiers.org/clinvar/310172 ^@ NM_002076.3(GNS):c.*2611dupT http://identifiers.org/clinvar/311666 ^@ NM_000059.3(BRCA2):c.*292A>C http://identifiers.org/clinvar/311816 ^@ NM_001127217.2(SMAD9):c.*3574_*3575delCA http://identifiers.org/clinvar/310522 ^@ NM_018979.3(WNK1):c.-328C>G http://identifiers.org/clinvar/312016 ^@ NM_207361.5(FREM2):c.7335T>C (p.Gly2445=) http://identifiers.org/clinvar/310622 ^@ NM_025114.3(CEP290):c.942+6T>G http://identifiers.org/clinvar/310827 ^@ NM_018979.3(WNK1):c.4320C>T (p.Ile1440=) http://identifiers.org/clinvar/312166 ^@ NM_014252.3(SLC25A15):c.-320G>C http://identifiers.org/clinvar/312316 ^@ NM_000321.2(RB1):c.*1527_*1528delTT http://identifiers.org/clinvar/312366 ^@ NM_000053.3(ATP7B):c.*870C>T http://identifiers.org/clinvar/312566 ^@ NM_005708.4(GPC6):c.*522G>A http://identifiers.org/clinvar/312766 ^@ NM_001145.4(ANG):c.-383C>G http://identifiers.org/clinvar/312866 ^@ NM_002471.3(MYH6):c.3164G>A (p.Arg1055Gln) http://identifiers.org/clinvar/338603 ^@ NM_030777.3(SLC2A10):c.*171C>T http://identifiers.org/clinvar/312966 ^@ NM_001099274.1(TINF2):c.-266G>A http://identifiers.org/clinvar/338703 ^@ NM_006420.2(ARFGEF2):c.4526G>A (p.Arg1509His) http://identifiers.org/clinvar/320547 ^@ NM_021615.4(CHST6):c.*2652C>T http://identifiers.org/clinvar/320647 ^@ NM_022041.3(GAN):c.-74G>C http://identifiers.org/clinvar/339254 ^@ NM_017671.4(FERMT1):c.-606G>C http://identifiers.org/clinvar/339304 ^@ NM_001853.3(COL9A3):c.1735C>A (p.Pro579Thr) http://identifiers.org/clinvar/339404 ^@ NM_025219.2(DNAJC5):c.*2208C>T http://identifiers.org/clinvar/339454 ^@ NM_012469.3(PRPF6):c.-83A>G http://identifiers.org/clinvar/321147 ^@ NM_020686.5(ABAT):c.*2749T>C http://identifiers.org/clinvar/320847 ^@ NM_001127464.2(ZNF469):c.81G>A (p.Pro27=) http://identifiers.org/clinvar/339604 ^@ NM_000933.3(PLCB4):c.*563delG http://identifiers.org/clinvar/339654 ^@ NM_000484.3(APP):c.-132G>T http://identifiers.org/clinvar/312266 ^@ NM_003850.2(SUCLA2):c.1074A>C (p.Thr358=) http://identifiers.org/clinvar/321347 ^@ NM_000135.2(FANCA):c.2395C>T (p.Pro799Ser) http://identifiers.org/clinvar/321447 ^@ NM_002386.3(MC1R):c.*263C>T http://identifiers.org/clinvar/312466 ^@ NM_000115.4(EDNRB):c.*585G>C http://identifiers.org/clinvar/342204 ^@ NM_000487.5(ARSA):c.*1369C>T http://identifiers.org/clinvar/368005 ^@ NM_000133.3(F9):c.*197G>A http://identifiers.org/clinvar/368055 ^@ NM_000033.3(ABCD1):c.*259A>G http://identifiers.org/clinvar/368255 ^@ NM_004006.2(DMD):c.-155C>T http://identifiers.org/clinvar/327428 ^@ NM_000140.3(FECH):c.854A>G (p.Gln285Arg) http://identifiers.org/clinvar/368555 ^@ NM_006306.3(SMC1A):c.*4382A>G http://identifiers.org/clinvar/327578 ^@ NM_005570.3(LMAN1):c.214+7C>T http://identifiers.org/clinvar/368705 ^@ NM_153252.4(BRWD3):c.*2831C>T http://identifiers.org/clinvar/368755 ^@ NM_021998.4(ZNF711):c.*632A>G http://identifiers.org/clinvar/338503 ^@ NM_000022.3(ADA):c.*152C>T http://identifiers.org/clinvar/338854 ^@ NM_144773.3(PROKR2):c.991G>A (p.Val331Met) http://identifiers.org/clinvar/338804 ^@ NM_000782.4(CYP24A1):c.*317T>C http://identifiers.org/clinvar/338904 ^@ NM_002591.3(PCK1):c.*357_*362delATGTGT http://identifiers.org/clinvar/338954 ^@ NM_004738.4(VAPB):c.*1483_*1486delGTGT http://identifiers.org/clinvar/339004 ^@ NM_004738.4(VAPB):c.*5233_*5237delTTATT http://identifiers.org/clinvar/339054 ^@ NM_001001433.2(STX16):c.644A>T (p.His215Leu) http://identifiers.org/clinvar/339154 ^@ NM_207034.2(EDN3):c.*957C>T http://identifiers.org/clinvar/339204 ^@ NM_017671.4(FERMT1):c.*42A>G http://identifiers.org/clinvar/338553 ^@ NM_004994.2(MMP9):c.997+5C>T http://identifiers.org/clinvar/338754 ^@ NM_003859.2(DPM1):c.295+8G>A http://identifiers.org/clinvar/339504 ^@ NM_015192.3(PLCB1):c.1668A>G (p.Glu556=) http://identifiers.org/clinvar/391334 ^@ NM_001003800.1(BICD2):c.1620C>T (p.His540=) http://identifiers.org/clinvar/390984 ^@ NM_001003800.1(BICD2):c.1387C>T (p.Arg463Cys) http://identifiers.org/clinvar/379919 ^@ NM_006214.3(PHYH):c.840C>A (p.Cys280Ter) http://identifiers.org/clinvar/386606 ^@ NM_001164277.1(SLC37A4):c.784+6A>T http://identifiers.org/clinvar/388345 ^@ NM_203447.3(DOCK8):c.2440+12C>G http://identifiers.org/clinvar/393173 ^@ NM_000089.3(COL1A2):c.3691A>G (p.Thr1231Ala) http://identifiers.org/clinvar/383665 ^@ NM_005005.2(NDUFB9):c.-47G>T http://identifiers.org/clinvar/389245 ^@ NM_001080463.1(DYNC2H1):c.12060+19C>T http://identifiers.org/clinvar/385856 ^@ NM_001080449.2(DNA2):c.2697+18T>C http://identifiers.org/clinvar/379518 ^@ NM_000314.6(PTEN):c.635-9A>G http://identifiers.org/clinvar/388845 ^@ NM_005097.3(LGI1):c.498A>C (p.Thr166=) http://identifiers.org/clinvar/379468 ^@ NM_002485.4(NBN):c.-49C>T http://identifiers.org/clinvar/385456 ^@ NM_006231.3(POLE):c.424-10C>T http://identifiers.org/clinvar/390784 ^@ NM_018249.5(CDK5RAP2):c.383+11T>G http://identifiers.org/clinvar/385706 ^@ NM_001843.3(CNTN1):c.497-17G>T http://identifiers.org/clinvar/380620 ^@ NM_006059.3(LAMC3):c.*19G>A http://identifiers.org/clinvar/383215 ^@ NM_002206.2(ITGA7):c.2146A>C (p.Met716Leu) http://identifiers.org/clinvar/386306 ^@ NM_002905.3(RDH5):c.-32-9C>T http://identifiers.org/clinvar/385606 ^@ NM_000543.4(SMPD1):c.1427G>A (p.Arg476Gln) http://identifiers.org/clinvar/390284 ^@ NM_000920.3(PC):c.159C>T (p.Phe53=) http://identifiers.org/clinvar/388995 ^@ NM_025114.3(CEP290):c.6145A>G (p.Ile2049Val) http://identifiers.org/clinvar/383715 ^@ NM_012463.3(ATP6V0A2):c.604G>A (p.Val202Met) http://identifiers.org/clinvar/386006 ^@ NM_012463.3(ATP6V0A2):c.1606-12G>A http://identifiers.org/clinvar/383816 ^@ NM_004985.4(KRAS):c.-9C>T http://identifiers.org/clinvar/383866 ^@ NM_001376.4(DYNC1H1):c.12663G>A (p.Thr4221=) http://identifiers.org/clinvar/385806 ^@ NM_175073.2(APTX):c.-5+8C>A http://identifiers.org/clinvar/388945 ^@ NM_032634.3(PIGO):c.2854+7C>A http://identifiers.org/clinvar/385956 ^@ NM_001844.4(COL2A1):c.2655A>T (p.Gly885=) http://identifiers.org/clinvar/382513 ^@ NM_020297.3(ABCC9):c.407-13T>C http://identifiers.org/clinvar/390434 ^@ NM_144670.5(A2ML1):c.976G>T (p.Glu326Ter) http://identifiers.org/clinvar/379618 ^@ NM_201590.2(CACNB2):c.*10G>A http://identifiers.org/clinvar/391384 ^@ NM_018109.3(MTPAP):c.654C>T (p.Ala218=) http://identifiers.org/clinvar/386406 ^@ NM_000059.3(BRCA2):c.1923T>C (p.Ser641=) http://identifiers.org/clinvar/380319 ^@ NM_000257.3(MYH7):c.4354-6G>A http://identifiers.org/clinvar/390134 ^@ NM_003239.4(TGFB3):c.558C>T (p.Ile186=) http://identifiers.org/clinvar/382914 ^@ NM_000548.4(TSC2):c.2054C>G (p.Pro685Arg) http://identifiers.org/clinvar/390634 ^@ NM_002471.3(MYH6):c.1734C>T (p.Phe578=) http://identifiers.org/clinvar/386356 ^@ NM_002496.3(NDUFS8):c.576G>T (p.Gly192=) http://identifiers.org/clinvar/380169 ^@ NM_016417.2(GLRX5):c.435C>T (p.Ser145=) http://identifiers.org/clinvar/382162 ^@ NM_004360.4(CDH1):c.832+9A>T http://identifiers.org/clinvar/384016 ^@ NM_001271.3(CHD2):c.568C>T (p.Arg190Cys) http://identifiers.org/clinvar/390584 ^@ NM_001127464.2(ZNF469):c.-18C>A http://identifiers.org/clinvar/388395 ^@ NM_006231.3(POLE):c.6531+15C>T http://identifiers.org/clinvar/381072 ^@ NM_005262.2(GFER):c.*3G>T http://identifiers.org/clinvar/383615 ^@ NM_017882.2(CLN6):c.-27C>A http://identifiers.org/clinvar/382714 ^@ NM_006231.3(POLE):c.3777C>A (p.Pro1259=) http://identifiers.org/clinvar/47420 ^@ NM_133378.4(TTN):c.7545C>T (p.Tyr2515=) http://identifiers.org/clinvar/47471 ^@ NM_133378.4(TTN):c.80305+13C>T http://identifiers.org/clinvar/47521 ^@ NM_133378.4(TTN):c.84487A>G (p.Ile28163Val) http://identifiers.org/clinvar/47571 ^@ NM_133378.4(TTN):c.8919C>G (p.Ser2973=) http://identifiers.org/clinvar/47621 ^@ NM_001256850.1(TTN):c.94978G>A (p.Glu31660Lys) http://identifiers.org/clinvar/47671 ^@ NM_133378.4(TTN):c.96681G>A (p.Lys32227=) http://identifiers.org/clinvar/47721 ^@ NM_133378.4(TTN):c.9988+9G>A http://identifiers.org/clinvar/47771 ^@ NM_133379.4(TTN):c.14327T>C (p.Leu4776Ser) http://identifiers.org/clinvar/47821 ^@ NM_133379.4(TTN):c.*265+4320C>T http://identifiers.org/clinvar/47871 ^@ NM_138691.2(TMC1):c.339G>A (p.Met113Ile) http://identifiers.org/clinvar/47921 ^@ NM_144612.6(LOXHD1):c.1810-6C>G http://identifiers.org/clinvar/47971 ^@ NM_005709.3(USH1C):c.101A>G (p.His34Arg) http://identifiers.org/clinvar/48023 ^@ NM_005709.3(USH1C):c.648G>A (p.Leu216=) http://identifiers.org/clinvar/48073 ^@ NM_005572.3(LMNA):c.643C>G (p.Leu215Val) http://identifiers.org/clinvar/48123 ^@ NM_000337.5(SGCD):c.699+18C>G http://identifiers.org/clinvar/48173 ^@ NM_194248.2(OTOF):c.1530C>T (p.Ile510=) http://identifiers.org/clinvar/48324 ^@ NM_201555.1(FHL2):c.462T>C (p.Tyr154=) http://identifiers.org/clinvar/48374 ^@ NM_206933.2(USH2A):c.11404G>A (p.Glu3802Lys) http://identifiers.org/clinvar/48424 ^@ NM_206933.2(USH2A):c.13984C>G (p.Gln4662Glu) http://identifiers.org/clinvar/48474 ^@ NM_007123.5(USH2A):c.1731C>T (p.Cys577=) http://identifiers.org/clinvar/262 ^@ NM_004628.4(XPC):c.1643_1644delTG (p.Val548Alafs) http://identifiers.org/clinvar/303 ^@ NM_000552.4(VWF):c.2435delC (p.Pro812Argfs) http://identifiers.org/clinvar/414 ^@ RNASET2, IVS5AS, A-G, -2 http://identifiers.org/clinvar/496 ^@ NM_173560.3(RFX6):c.380+2T>C http://identifiers.org/clinvar/505 ^@ NM_001010892.2(RSPH4A):c.1468C>T (p.Arg490Ter) http://identifiers.org/clinvar/655 ^@ NM_000130.4(F5):c.1160T>C (p.Ile387Thr) http://identifiers.org/clinvar/687 ^@ NM_000147.4(FUCA1):c.648C>A (p.Tyr216Ter) http://identifiers.org/clinvar/1093 ^@ FLVCR2, IVS7DS, T-C, +2 http://identifiers.org/clinvar/1102 ^@ NM_000642.2(AGL):c.4342G>C (p.Gly1448Arg) http://identifiers.org/clinvar/1207 ^@ MAT1A, 2-BP DEL, 1043TG http://identifiers.org/clinvar/2116 ^@ NM_003477.2(PDHX):c.620delC (p.Pro207Leufs) http://identifiers.org/clinvar/2162 ^@ NM_213599.2(ANO5):c.1066T>G (p.Cys356Gly) http://identifiers.org/clinvar/2208 ^@ NM_024006.5(VKORC1):c.134T>C (p.Val45Ala) http://identifiers.org/clinvar/2253 ^@ NM_000265.5(NCF1):c.271C>T (p.Gln91Ter) http://identifiers.org/clinvar/2299 ^@ NM_005609.3(PYGM):c.613G>A (p.Gly205Ser) http://identifiers.org/clinvar/2344 ^@ NM_016341.3(PLCE1):c.1146delG (p.Ser383Glnfs) http://identifiers.org/clinvar/2390 ^@ NM_000045.3(ARG1):c.365G>A (p.Trp122Ter) http://identifiers.org/clinvar/2435 ^@ NM_006548.5(IGF2BP2):c.239+29254C>A http://identifiers.org/clinvar/2480 ^@ NM_024577.3(SH3TC2):c.530-2A>G http://identifiers.org/clinvar/2527 ^@ NM_017680.4(ASPN):c.112_114GAT(14) (p.Asp50_Glu51insAsp) http://identifiers.org/clinvar/2574 ^@ NM_000483.4(APOC2):c.177C>A (p.Tyr59Ter) http://identifiers.org/clinvar/2666 ^@ NM_182760.3(SUMF1):c.1045C>T (p.Arg349Trp) http://identifiers.org/clinvar/2712 ^@ NM_178443.2(FERMT3):c.1537C>T (p.Arg513Ter) http://identifiers.org/clinvar/2758 ^@ NM_014319.4(LEMD3):c.2564G>A (p.Trp855Ter) http://identifiers.org/clinvar/2802 ^@ NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) http://identifiers.org/clinvar/2848 ^@ NM_020184.3(CNNM4):c.707G>A (p.Arg236Gln) http://identifiers.org/clinvar/2894 ^@ NM_000419.4(ITGA2B):c.818G>A (p.Gly273Asp) http://identifiers.org/clinvar/2939 ^@ NM_001902.5(CTH):c.200C>T (p.Thr67Ile) http://identifiers.org/clinvar/2985 ^@ SMPD1, 2-BP DEL, LEU178FS http://identifiers.org/clinvar/3079 ^@ ARSA, IVS5DS, G-T, -1, GLY325CYS http://identifiers.org/clinvar/3128 ^@ NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) http://identifiers.org/clinvar/3179 ^@ NM_138477.2(CDAN1):c.2015C>T (p.P672L) http://identifiers.org/clinvar/3223 ^@ NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter) http://identifiers.org/clinvar/3272 ^@ NM_024529.4(CDC73):c.191T>C (p.Leu64Pro) http://identifiers.org/clinvar/10151 ^@ F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL http://identifiers.org/clinvar/10197 ^@ NM_000132.3(F8):c.940A>G (p.Thr314Ala) http://identifiers.org/clinvar/10241 ^@ NM_000132.3(F8):c.1965C>G (p.Tyr655Ter) http://identifiers.org/clinvar/10287 ^@ NM_000132.3(F8):c.5593G>T (p.Asp1865Tyr) http://identifiers.org/clinvar/10331 ^@ NM_000132.3(F8):c.6912_6916delAAATC (p.Asn2305Argfs) http://identifiers.org/clinvar/10379 ^@ NM_000402.4(G6PD):c.1451G>A (p.Arg484His) http://identifiers.org/clinvar/10429 ^@ NM_002049.3(GATA1):c.154_173dup20 (p.Ala59Glnfs) http://identifiers.org/clinvar/10477 ^@ NM_000032.4(ALAS2):c.1184G>A (p.Cys395Tyr) http://identifiers.org/clinvar/10522 ^@ NM_000273.2(GPR143):c.266C>T (p.Ser89Phe) http://identifiers.org/clinvar/10568 ^@ NM_000133.3(F9):c.52T>C (p.Cys18Arg) http://identifiers.org/clinvar/10612 ^@ NM_000133.3(F9):c.1135C>T (p.Arg379Ter) http://identifiers.org/clinvar/10658 ^@ NM_000133.3(F9):c.1256T>A (p.Val419Glu) http://identifiers.org/clinvar/10703 ^@ NM_203473.2(PORCN):c.222G>A (p.Trp74Ter) http://identifiers.org/clinvar/10749 ^@ GLA, 13-BP DEL, NT125 http://identifiers.org/clinvar/10794 ^@ NM_024921.3(POF1B):c.986G>A (p.Arg329Gln) http://identifiers.org/clinvar/10839 ^@ NM_000054.4(AVPR2):c.607C>T (p.Arg203Cys) http://identifiers.org/clinvar/10884 ^@ NM_000284.3(PDHA1):c.943G>A (p.Asp315Asn) http://identifiers.org/clinvar/10976 ^@ NM_000475.4(NR0B1):c.890T>C (p.Leu297Pro) http://identifiers.org/clinvar/11065 ^@ NM_001015877.1(PHF6):c.700A>G (p.Lys234Glu) http://identifiers.org/clinvar/11441 ^@ NM_003413.3(ZIC3):c.763T>G (p.Trp255Gly) http://identifiers.org/clinvar/11492 ^@ NM_006579.2(EBP):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/11543 ^@ NM_003611.2(OFD1):c.2123_2126dupAAGA (p.Asn711Lysfs) http://identifiers.org/clinvar/11593 ^@ NM_001363.4(DKC1):c.113T>C (p.Ile38Thr) http://identifiers.org/clinvar/11643 ^@ NM_005676.4(RBM10):c.1893dupA (p.Pro632Thrfs) http://identifiers.org/clinvar/11694 ^@ NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter) http://identifiers.org/clinvar/11745 ^@ NM_000489.4(ATRX):c.659G>A (p.Cys220Tyr) http://identifiers.org/clinvar/11796 ^@ NM_001127899.3(CLCN5):c.1047G>A (p.Trp349Ter) http://identifiers.org/clinvar/11846 ^@ NM_004992.3(MECP2):c.710delG (p.Gly237Valfs) http://identifiers.org/clinvar/11896 ^@ NM_000128.3(F11):c.438C>A (p.Cys146Ter) http://identifiers.org/clinvar/11946 ^@ NM_001918.3(DBT):c.1017_1018insNC_000001.11:g.100207187_100207312 http://identifiers.org/clinvar/11998 ^@ NM_000151.3(G6PC):c.247C>T (p.Arg83Cys) http://identifiers.org/clinvar/12048 ^@ NM_000136.2(FANCC):c.1555dupA (p.Thr519Asnfs) http://identifiers.org/clinvar/12098 ^@ NM_000196.3(HSD11B2):c.835C>T (p.Arg279Cys) http://identifiers.org/clinvar/12148 ^@ NM_024649.4(BBS1):c.700G>A (p.Glu234Lys) http://identifiers.org/clinvar/12202 ^@ NM_003383.4(VLDLR):c.2339delT (p.Ile780Thrfs) http://identifiers.org/clinvar/12254 ^@ UMOD, 27-BP DEL, NT1966 http://identifiers.org/clinvar/13105 ^@ NM_000283.3(PDE6B):c.1488delC (p.Thr497Profs) http://identifiers.org/clinvar/13155 ^@ NM_000448.2(RAG1):c.2942A>C (p.Gln981Pro) http://identifiers.org/clinvar/13207 ^@ SFTPC, IVS4DS, G-A, +1 http://identifiers.org/clinvar/13258 ^@ NM_004431.4(EPHA2):c.2842G>T (p.Gly948Trp) http://identifiers.org/clinvar/13565 ^@ NM_000212.2(ITGB3):c.1924G>T (p.Glu642Ter) http://identifiers.org/clinvar/37796 ^@ NM_000059.3(BRCA2):c.2658_2659delTG (p.Asn886Lysfs) http://identifiers.org/clinvar/37848 ^@ NM_000059.3(BRCA2):c.3620A>G (p.Tyr1207Cys) http://identifiers.org/clinvar/37900 ^@ NM_000059.3(BRCA2):c.440A>T (p.Gln147Leu) http://identifiers.org/clinvar/37954 ^@ NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs) http://identifiers.org/clinvar/38006 ^@ NM_000059.3(BRCA2):c.5897A>G (p.His1966Arg) http://identifiers.org/clinvar/38061 ^@ NM_000059.3(BRCA2):c.67+4T>C http://identifiers.org/clinvar/38111 ^@ NM_000059.3(BRCA2):c.7618C>A (p.Leu2540Met) http://identifiers.org/clinvar/38161 ^@ NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg) http://identifiers.org/clinvar/38211 ^@ NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) http://identifiers.org/clinvar/38261 ^@ NM_000059.3(BRCA2):c.971G>C (p.Arg324Thr) http://identifiers.org/clinvar/38323 ^@ NM_000168.5(GLI3):c.3324C>G (p.Tyr1108Ter) http://identifiers.org/clinvar/38380 ^@ NM_005211.3(CSF1R):c.2546T>C (p.Phe849Ser) http://identifiers.org/clinvar/38438 ^@ NM_133378.4(TTN):c.100133A>C (p.His33378Pro) http://identifiers.org/clinvar/38596 ^@ NM_020630.4(RET):c.1826G>C (p.Cys609Ser) http://identifiers.org/clinvar/38763 ^@ NM_000495.4(COL4A5):c.2434_2441delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC (p.Pro812Asnfs) http://identifiers.org/clinvar/38875 ^@ NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA (p.Gly407Argfs) http://identifiers.org/clinvar/38937 ^@ NM_001363.4(DKC1):c.115A>G (p.Lys39Glu) http://identifiers.org/clinvar/38988 ^@ NM_004614.4(TK2):c.388C>T (p.Arg130Trp) http://identifiers.org/clinvar/39039 ^@ NM_024312.4(GNPTAB):c.171delA (p.Asp58Thrfs) http://identifiers.org/clinvar/39089 ^@ NM_024312.4(GNPTAB):c.755_759delCCTCT (p.Ser252Terfs) http://identifiers.org/clinvar/39146 ^@ NM_198578.3(LRRK2):c.2167A>G (p.Ile723Val) http://identifiers.org/clinvar/39196 ^@ NM_198578.3(LRRK2):c.4838T>C (p.Val1613Ala) http://identifiers.org/clinvar/39246 ^@ NM_198578.3(LRRK2):c.936G>T (p.Ala312=) http://identifiers.org/clinvar/39297 ^@ NR_001566.1(TERC):n.48A>G http://identifiers.org/clinvar/39460 ^@ NM_001111.4(ADAR):c.2997G>T (p.Lys999Asn) http://identifiers.org/clinvar/39511 ^@ NM_000168.5(GLI3):c.1616_1617delGA (p.Arg539Thrfs) http://identifiers.org/clinvar/39561 ^@ PNPLA1, GLU131TER http://identifiers.org/clinvar/40656 ^@ NM_005633.3(SOS1):c.571G>A (p.Glu191Lys) http://identifiers.org/clinvar/40746 ^@ NM_002755.3(MAP2K1):c.383G>A (p.Gly128Asp) http://identifiers.org/clinvar/40842 ^@ NM_030662.3(MAP2K2):c.1112G>A (p.Arg371Gln) http://identifiers.org/clinvar/41016 ^@ NM_000530.7(MPZ):c.241C>T (p.His81Tyr) http://identifiers.org/clinvar/41072 ^@ NM_003611.2(OFD1):c.1318delC (p.Leu440Terfs) http://identifiers.org/clinvar/41128 ^@ NM_003611.2(OFD1):c.594_598delAAAGC (p.Leu200Terfs) http://identifiers.org/clinvar/41180 ^@ NM_003977.3(AIP):c.429G>A (p.Gln143=) http://identifiers.org/clinvar/41238 ^@ NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) http://identifiers.org/clinvar/51447 ^@ NM_000059.3(BRCA2):c.3301C>T (p.His1101Tyr) http://identifiers.org/clinvar/51498 ^@ NM_000059.3(BRCA2):c.3645_3646delGTinsTAAAAAG (p.Phe1216Lysfs) http://identifiers.org/clinvar/51548 ^@ NM_000059.3(BRCA2):c.3863dupA (p.Asn1288Lysfs) http://identifiers.org/clinvar/51600 ^@ NM_000059.3(BRCA2):c.4121delA (p.Lys1374Argfs) http://identifiers.org/clinvar/51652 ^@ NM_000059.3(BRCA2):c.4471_4474delCTGA (p.Leu1491Lysfs) http://identifiers.org/clinvar/51704 ^@ NM_000059.3(BRCA2):c.4731_4736delATTAGCinsG (p.Leu1578Metfs) http://identifiers.org/clinvar/51754 ^@ NM_000059.3(BRCA2):c.5003C>G (p.Ala1668Gly) http://identifiers.org/clinvar/51806 ^@ NM_000059.3(BRCA2):c.5180delA (p.Asn1727Metfs) http://identifiers.org/clinvar/51859 ^@ NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) http://identifiers.org/clinvar/51911 ^@ NM_000059.3(BRCA2):c.5702_5703delAG (p.Glu1901Glyfs) http://identifiers.org/clinvar/51963 ^@ NM_000059.3(BRCA2):c.5904_5907delAGTC (p.Val1969Hisfs) http://identifiers.org/clinvar/52014 ^@ NM_000059.3(BRCA2):c.610_613dupCTTA (p.Ser205Thrfs) http://identifiers.org/clinvar/52065 ^@ NM_000059.3(BRCA2):c.632-9A>G http://identifiers.org/clinvar/52119 ^@ NM_000059.3(BRCA2):c.6509_6510delAA (p.Lys2170Serfs) http://identifiers.org/clinvar/52170 ^@ NM_000059.3(BRCA2):c.6722C>T (p.Thr2241Ile) http://identifiers.org/clinvar/52220 ^@ NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) http://identifiers.org/clinvar/52272 ^@ NM_000059.3(BRCA2):c.7118G>C (p.Ser2373Thr) http://identifiers.org/clinvar/52322 ^@ NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr) http://identifiers.org/clinvar/52372 ^@ NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) http://identifiers.org/clinvar/52423 ^@ NM_000059.3(BRCA2):c.7826G>A (p.Gly2609Asp) http://identifiers.org/clinvar/52473 ^@ NM_000059.3(BRCA2):c.8020_8021delAA (p.Lys2674Aspfs) http://identifiers.org/clinvar/52523 ^@ NM_000059.3(BRCA2):c.818C>A (p.Ser273Ter) http://identifiers.org/clinvar/52574 ^@ NM_000059.3(BRCA2):c.8395delA (p.Arg2799Aspfs) http://identifiers.org/clinvar/52624 ^@ NM_000059.3(BRCA2):c.8572C>T (p.Gln2858Ter) http://identifiers.org/clinvar/52676 ^@ NM_000059.3(BRCA2):c.8773C>T (p.Gln2925Ter) http://identifiers.org/clinvar/52726 ^@ NM_000059.3(BRCA2):c.9007G>T (p.Gly3003Ter) http://identifiers.org/clinvar/52777 ^@ NM_000059.3(BRCA2):c.9213G>T (p.Glu3071Asp) http://identifiers.org/clinvar/52828 ^@ NM_000059.3(BRCA2):c.9393delC (p.Lys3132Asnfs) http://identifiers.org/clinvar/53285 ^@ NM_000492.3(CFTR):c.1584+1G>A http://identifiers.org/clinvar/54292 ^@ NM_007294.3(BRCA1):c.1561_1564delGCAGinsTAAA (p.Ala521Ter) http://identifiers.org/clinvar/54342 ^@ NM_007294.3(BRCA1):c.1756C>T (p.Pro586Ser) http://identifiers.org/clinvar/54393 ^@ NM_007294.3(BRCA1):c.1906delT (p.Cys636Valfs) http://identifiers.org/clinvar/54443 ^@ NM_007294.3(BRCA1):c.2037delGinsCC (p.Lys679Asnfs) http://identifiers.org/clinvar/54493 ^@ NM_007294.3(BRCA1):c.2196delA (p.Glu733Argfs) http://identifiers.org/clinvar/54543 ^@ NM_007294.3(BRCA1):c.2350_2351delTC (p.Ser784Valfs) http://identifiers.org/clinvar/54593 ^@ NM_007294.3(BRCA1):c.2534T>C (p.Ile845Thr) http://identifiers.org/clinvar/54643 ^@ NM_007294.3(BRCA1):c.2682delA (p.Lys894Asnfs) http://identifiers.org/clinvar/54693 ^@ NM_007294.3(BRCA1):c.2834_2836delGTA (p.Ser945del) http://identifiers.org/clinvar/54743 ^@ NM_007294.3(BRCA1):c.2998_3003delGAGGAA (p.Glu1000_Glu1001del) http://identifiers.org/clinvar/54793 ^@ NM_007294.3(BRCA1):c.3183delA (p.Ile1061Metfs) http://identifiers.org/clinvar/54843 ^@ NM_007294.3(BRCA1):c.3329dupA (p.Gln1111Alafs) http://identifiers.org/clinvar/54893 ^@ NM_007294.3(BRCA1):c.346G>A (p.Glu116Lys) http://identifiers.org/clinvar/54943 ^@ NM_007294.3(BRCA1):c.3626delT (p.Leu1209Terfs) http://identifiers.org/clinvar/54995 ^@ NM_007294.3(BRCA1):c.3760_3761insT (p.Lys1254Ilefs) http://identifiers.org/clinvar/55046 ^@ NM_007294.3(BRCA1):c.390C>A (p.Tyr130Ter) http://identifiers.org/clinvar/55097 ^@ NM_007294.3(BRCA1):c.4074G>A (p.Glu1358=) http://identifiers.org/clinvar/55148 ^@ NM_007294.3(BRCA1):c.4237G>T (p.Glu1413Ter) http://identifiers.org/clinvar/55199 ^@ NM_007294.3(BRCA1):c.4435delG (p.Val1479Cysfs) http://identifiers.org/clinvar/55249 ^@ NM_007294.3(BRCA1):c.4643C>T (p.Thr1548Met) http://identifiers.org/clinvar/55300 ^@ NM_007294.3(BRCA1):c.4838_4839insC (p.Pro1614Serfs) http://identifiers.org/clinvar/55350 ^@ NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met) http://identifiers.org/clinvar/55400 ^@ NM_007294.3(BRCA1):c.509G>A (p.Arg170Gln) http://identifiers.org/clinvar/55450 ^@ NM_007294.3(BRCA1):c.5193+2delT http://identifiers.org/clinvar/55502 ^@ NM_007294.3(BRCA1):c.5278-1G>T http://identifiers.org/clinvar/55553 ^@ NM_007294.3(BRCA1):c.5365G>T (p.Ala1789Ser) http://identifiers.org/clinvar/55603 ^@ NM_007294.3(BRCA1):c.5503delC (p.Arg1835Glufs) http://identifiers.org/clinvar/102556 ^@ NM_000277.1(PAH):c.1199+1G>A http://identifiers.org/clinvar/102607 ^@ NM_000277.1(PAH):c.168+5G>T http://identifiers.org/clinvar/102662 ^@ NM_000277.1(PAH):c.386A>T (p.Asp129Val) http://identifiers.org/clinvar/102713 ^@ NM_000277.1(PAH):c.510-6T>A http://identifiers.org/clinvar/102763 ^@ NM_000277.1(PAH):c.618C>G (p.Tyr206Ter) http://identifiers.org/clinvar/102814 ^@ NM_000277.1(PAH):c.737delC (p.Ala246Valfs) http://identifiers.org/clinvar/102974 ^@ NM_001330552.1(NLRC5):c.-1063G>A http://identifiers.org/clinvar/103024 ^@ NM_001033053.2(NLRP1):c.3533-91A>G http://identifiers.org/clinvar/103074 ^@ NM_001199138.1(NLRC4):c.1570G>A (p.Ala524Thr) http://identifiers.org/clinvar/103124 ^@ NM_022162.2(NOD2):c.2547-41G>A http://identifiers.org/clinvar/103174 ^@ NM_032206.4(NLRC5):c.3248+56T>A http://identifiers.org/clinvar/103224 ^@ NM_134444.4(NLRP4):c.2697-169A>G http://identifiers.org/clinvar/103274 ^@ NM_145007.3(NLRP11):c.2343-32A>G http://identifiers.org/clinvar/103324 ^@ NM_176811.2(NLRP8):c.2170G>A (p.Ala724Thr) http://identifiers.org/clinvar/103374 ^@ NM_178844.3(NLRC3):c.*2C>T http://identifiers.org/clinvar/111248 ^@ NM_005534.3(IFNGR2):c.528T>C (p.Tyr176=) http://identifiers.org/clinvar/120183 ^@ NM_001040616.2(LINS1):c.1219_1222+1delAAAGG http://identifiers.org/clinvar/120260 ^@ NM_000277.1(PAH):c.1163T>C (p.Val388Ala) http://identifiers.org/clinvar/120310 ^@ NM_000277.1(PAH):c.155delT (p.Leu52Cysfs) http://identifiers.org/clinvar/125467 ^@ NM_007294.3(BRCA1):c.-19-10T>C http://identifiers.org/clinvar/125542 ^@ NM_007294.3(BRCA1):c.2188dupG (p.Glu730Glyfs) http://identifiers.org/clinvar/125625 ^@ NM_007294.3(BRCA1):c.3327_3329delAAA (p.Lys1110del) http://identifiers.org/clinvar/125695 ^@ NM_007294.3(BRCA1):c.4186-11C>T http://identifiers.org/clinvar/125756 ^@ NM_007294.3(BRCA1):c.5056dupC (p.His1686Profs) http://identifiers.org/clinvar/125832 ^@ NM_007294.3(BRCA1):c.5352dupA (p.Gln1785Thrfs) http://identifiers.org/clinvar/126155 ^@ NM_000059.3(BRCA2):c.7719dupA (p.Trp2574Metfs) http://identifiers.org/clinvar/126215 ^@ U43746.1:n.9877-68_9877-65delTTAC http://identifiers.org/clinvar/126273 ^@ NM_017777.3(MKS1):c.191-44G>A http://identifiers.org/clinvar/126324 ^@ NM_020732.3(ARID1B):c.3025+21C>T http://identifiers.org/clinvar/126380 ^@ NM_020347.3(LZTFL1):c.260T>C (p.Leu87Pro) http://identifiers.org/clinvar/127361 ^@ NM_000051.3(ATM):c.2919A>G (p.Leu973=) http://identifiers.org/clinvar/127411 ^@ NM_000051.3(ATM):c.5791delGinsCCT (p.Ala1931Profs) http://identifiers.org/clinvar/127461 ^@ NM_000051.3(ATM):c.8594T>C (p.Ile2865Thr) http://identifiers.org/clinvar/127512 ^@ NM_000057.3(BLM):c.542G>T (p.Ser181Ile) http://identifiers.org/clinvar/127562 ^@ NM_000179.2(MSH6):c.1652G>A (p.Gly551Asp) http://identifiers.org/clinvar/127613 ^@ NM_000249.3(MLH1):c.1379A>C (p.Glu460Ala) http://identifiers.org/clinvar/127666 ^@ NM_000314.6(PTEN):c.-1243G>A http://identifiers.org/clinvar/127722 ^@ NM_000465.3(BARD1):c.1718T>C (p.Ile573Thr) http://identifiers.org/clinvar/127772 ^@ NM_000535.6(PMS2):c.20C>T (p.Ser7Leu) http://identifiers.org/clinvar/159907 ^@ NM_006517.4(SLC16A2):c.449C>A (p.Ala150Glu) http://identifiers.org/clinvar/160782 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 http://identifiers.org/clinvar/160832 ^@ GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 http://identifiers.org/clinvar/161578 ^@ NM_001243.4(TNFRSF8):c.271G>T (p.Asp91Tyr) http://identifiers.org/clinvar/161678 ^@ NM_014639.3(TTC37):c.140G>C (p.Gly47Ala) http://identifiers.org/clinvar/161628 ^@ NM_004984.2(KIF5A):c.2492C>T (p.Ser831Phe) http://identifiers.org/clinvar/161528 ^@ NM_001142776.2(CHAC1):c.405G>A (p.Trp135Ter) http://identifiers.org/clinvar/161828 ^@ NM_173531.3(ZNF100):c.407delG (p.Gly136Glufs) http://identifiers.org/clinvar/161778 ^@ NM_031485.3(GRWD1):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/161728 ^@ NM_020062.3(SLC2A4RG):c.1060C>A (p.Arg354Ser) http://identifiers.org/clinvar/161992 ^@ NM_005154.4(USP8):c.2152T>C (p.Ser718Pro) http://identifiers.org/clinvar/162058 ^@ NM_001244008.1(KIF1A):c.647G>C (p.Arg216Pro) http://identifiers.org/clinvar/162118 ^@ NM_005211.3(CSF1R):c.2342C>T (p.Ala781Val) http://identifiers.org/clinvar/162177 ^@ NM_001645.3(APOC1):c.*459A>G http://identifiers.org/clinvar/162389 ^@ NM_152515.4(CKAP2L):c.554_555delAA (p.Lys185Argfs) http://identifiers.org/clinvar/162470 ^@ NM_021949.3(ATP2B3):c.1277_1282delTCGTGG (p.Val426_Val427del) http://identifiers.org/clinvar/162523 ^@ NM_172362.2(KCNH1):c.651G>C (p.Lys217Asn) http://identifiers.org/clinvar/162610 ^@ NM_032856.3(WDR73):c.129T>G (p.Tyr43Ter) http://identifiers.org/clinvar/178649 ^@ NM_206933.2(USH2A):c.12817T>C (p.Tyr4273His) http://identifiers.org/clinvar/178349 ^@ NM_024009.2(GJB3):c.372C>T (p.His124=) http://identifiers.org/clinvar/179657 ^@ NM_000364.3(TNNT2):c.329A>G (p.Asn110Ser) http://identifiers.org/clinvar/177746 ^@ NM_206933.2(USH2A):c.14753C>T (p.Thr4918Met) http://identifiers.org/clinvar/179857 ^@ NM_133378.4(TTN):c.85970T>C (p.Ile28657Thr) http://identifiers.org/clinvar/179957 ^@ NM_133378.4(TTN):c.64948A>C (p.Asn21650His) http://identifiers.org/clinvar/180107 ^@ NM_133378.4(TTN):c.60491C>A (p.Ser20164Ter) http://identifiers.org/clinvar/178199 ^@ NM_133378.4(TTN):c.58456+15C>T http://identifiers.org/clinvar/178249 ^@ NM_133378.4(TTN):c.15046A>C (p.Lys5016Gln) http://identifiers.org/clinvar/179057 ^@ NM_133432.3(TTN):c.13170C>T (p.Ser4390=) http://identifiers.org/clinvar/179807 ^@ NM_194248.2(OTOF):c.3124A>G (p.Met1042Val) http://identifiers.org/clinvar/163158 ^@ NM_001369.2(DNAH5):c.1503T>C (p.Ile501=) http://identifiers.org/clinvar/179307 ^@ NM_147196.2(TMIE):c.391_393dupAAG (p.Lys131_Asp132insLys) http://identifiers.org/clinvar/162854 ^@ NM_178335.2(CCDC50):c.153G>A (p.Leu51=) http://identifiers.org/clinvar/163108 ^@ NM_001277115.1(DNAH11):c.7552G>A (p.Val2518Ile) http://identifiers.org/clinvar/177645 ^@ NM_005228.4(EGFR):c.2237_2251delAATTAAGAGAAGCAA (p.Glu746_Thr751delinsAla) http://identifiers.org/clinvar/163374 ^@ NM_005228.4(EGFR):c.2308_2310delGACinsTGGG (p.Asp770Trpfs) http://identifiers.org/clinvar/179907 ^@ NM_032119.3(ADGRV1):c.17856+4G>A http://identifiers.org/clinvar/198444 ^@ NM_001023570.3(IQCB1):c.574C>T (p.Leu192=) http://identifiers.org/clinvar/198497 ^@ NM_003494.3(DYSF):c.681C>T (p.Ile227=) http://identifiers.org/clinvar/198549 ^@ NM_007254.3(PNKP):c.650C>G (p.Thr217Ser) http://identifiers.org/clinvar/198601 ^@ NM_032634.3(PIGO):c.2004G>A (p.Leu668=) http://identifiers.org/clinvar/198652 ^@ NM_001271208.1(NEB):c.11077-5delT http://identifiers.org/clinvar/198703 ^@ NM_000272.3(NPHP1):c.830G>A (p.Arg277Gln) http://identifiers.org/clinvar/198758 ^@ NM_001006657.1(WDR35):c.770T>C (p.Val257Ala) http://identifiers.org/clinvar/198809 ^@ NM_004530.5(MMP2):c.1287delG (p.Asn430Thrfs) http://identifiers.org/clinvar/198863 ^@ NM_014795.3(ZEB2):c.1877G>A (p.Gly626Glu) http://identifiers.org/clinvar/198918 ^@ NM_153026.2(PRICKLE1):c.2216C>T (p.Ser739Phe) http://identifiers.org/clinvar/198970 ^@ NM_133378.4(TTN):c.22210A>G (p.Lys7404Glu) http://identifiers.org/clinvar/199021 ^@ NM_000430.3(PAFAH1B1):c.907_910delAAAA (p.Lys303Valfs) http://identifiers.org/clinvar/199071 ^@ NM_001851.4(COL9A1):c.904G>A (p.Gly302Ser) http://identifiers.org/clinvar/199126 ^@ NM_012301.3(MAGI2):c.1391A>G (p.Asp464Gly) http://identifiers.org/clinvar/199176 ^@ NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) http://identifiers.org/clinvar/199232 ^@ NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg) http://identifiers.org/clinvar/201384 ^@ NM_001035.2(RYR2):c.6523A>G (p.Met2175Val) http://identifiers.org/clinvar/199733 ^@ NM_000090.3(COL3A1):c.2665A>T (p.Asn889Tyr) http://identifiers.org/clinvar/201494 ^@ NM_198056.2(SCN5A):c.3404G>T (p.Ser1135Ile) http://identifiers.org/clinvar/201553 ^@ NM_198056.2(SCN5A):c.1428_1431delCAAG (p.Ser476Argfs) http://identifiers.org/clinvar/201439 ^@ NM_198056.2(SCN5A):c.612-207G>A http://identifiers.org/clinvar/199842 ^@ NM_004415.3(DSP):c.5005C>T (p.Leu1669Phe) http://identifiers.org/clinvar/199899 ^@ NM_004415.3(DSP):c.6188G>A (p.Arg2063Gln) http://identifiers.org/clinvar/199675 ^@ NM_001613.2(ACTA2):c.808G>A (p.Gly270Arg) http://identifiers.org/clinvar/200126 ^@ NM_000138.4(FBN1):c.8010C>G (p.Tyr2670Ter) http://identifiers.org/clinvar/200069 ^@ NM_000138.4(FBN1):c.5801G>A (p.Cys1934Tyr) http://identifiers.org/clinvar/200014 ^@ NM_000138.4(FBN1):c.3184G>A (p.Asp1062Asn) http://identifiers.org/clinvar/199955 ^@ NM_000138.4(FBN1):c.539-1G>A http://identifiers.org/clinvar/199789 ^@ NM_001943.4(DSG2):c.1573A>G (p.Asn525Asp) http://identifiers.org/clinvar/201941 ^@ NM_144573.3(NEXN):c.1445_1446delAA (p.Lys482Argfs) http://identifiers.org/clinvar/202054 ^@ NM_001134363.2(RBM20):c.1040A>G (p.Tyr347Cys) http://identifiers.org/clinvar/201884 ^@ NM_032578.3(MYPN):c.1594G>A (p.Val532Met) http://identifiers.org/clinvar/201667 ^@ NM_014391.2(ANKRD1):c.860C>T (p.Thr287Met) http://identifiers.org/clinvar/201612 ^@ NM_020297.3(ABCC9):c.3604A>G (p.Thr1202Ala) http://identifiers.org/clinvar/201997 ^@ NM_004572.3(PKP2):c.1849C>T (p.Gln617Ter) http://identifiers.org/clinvar/202113 ^@ NM_003673.3(TCAP):c.110+5G>T http://identifiers.org/clinvar/201833 ^@ NM_002230.2(JUP):c.958C>T (p.Arg320Cys) http://identifiers.org/clinvar/202171 ^@ NM_001127660.1(MFN2):c.746C>T (p.Ser249Phe) http://identifiers.org/clinvar/202221 ^@ NC_000014.8:g.(?_28062826)_(28192913_?)del http://identifiers.org/clinvar/203115 ^@ NM_001256850.1(TTN):c.102416G>A (p.Arg34139His) http://identifiers.org/clinvar/203065 ^@ NM_001256850.1(TTN):c.97416T>G (p.Cys32472Trp) http://identifiers.org/clinvar/202815 ^@ NM_001256850.1(TTN):c.62995G>A (p.Val20999Ile) http://identifiers.org/clinvar/229993 ^@ NM_000038.5(APC):c.5627G>T (p.Arg1876Met) http://identifiers.org/clinvar/231293 ^@ NM_005732.3(RAD50):c.925C>T (p.His309Tyr) http://identifiers.org/clinvar/230493 ^@ NM_000535.6(PMS2):c.2437C>G (p.Arg813Gly) http://identifiers.org/clinvar/230193 ^@ NM_000535.6(PMS2):c.1159A>C (p.Met387Leu) http://identifiers.org/clinvar/230693 ^@ NM_000535.6(PMS2):c.859A>G (p.Arg287Gly) http://identifiers.org/clinvar/230093 ^@ NM_002485.4(NBN):c.793G>T (p.Ala265Ser) http://identifiers.org/clinvar/233533 ^@ NM_002485.4(NBN):c.777A>G (p.Glu259=) http://identifiers.org/clinvar/230843 ^@ NM_000051.3(ATM):c.2497G>T (p.Gly833Ter) http://identifiers.org/clinvar/230743 ^@ NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) http://identifiers.org/clinvar/232833 ^@ NM_000051.3(ATM):c.6785C>A (p.Ala2262Asp) http://identifiers.org/clinvar/233483 ^@ NM_000051.3(ATM):c.8046T>C (p.Thr2682=) http://identifiers.org/clinvar/231193 ^@ NM_017841.2(SDHAF2):c.206G>A (p.Arg69His) http://identifiers.org/clinvar/233433 ^@ NM_000075.3(CDK4):c.901A>C (p.Asn301His) http://identifiers.org/clinvar/233133 ^@ NM_000075.3(CDK4):c.728C>A (p.Ser243Tyr) http://identifiers.org/clinvar/231643 ^@ NM_000059.3(BRCA2):c.1756A>T (p.Lys586Ter) http://identifiers.org/clinvar/232733 ^@ NM_000059.3(BRCA2):c.2933A>G (p.Asn978Ser) http://identifiers.org/clinvar/232933 ^@ NM_000059.3(BRCA2):c.2968A>G (p.Met990Val) http://identifiers.org/clinvar/233785 ^@ NM_000059.3(BRCA2):c.4427A>G (p.Asp1476Gly) http://identifiers.org/clinvar/231343 ^@ NM_000059.3(BRCA2):c.4485C>T (p.Val1495=) http://identifiers.org/clinvar/232983 ^@ NM_000059.3(BRCA2):c.6532C>G (p.His2178Asp) http://identifiers.org/clinvar/232883 ^@ NM_000059.3(BRCA2):c.6581T>C (p.Ile2194Thr) http://identifiers.org/clinvar/233333 ^@ NM_000059.3(BRCA2):c.6868T>C (p.Leu2290=) http://identifiers.org/clinvar/230293 ^@ NM_000059.3(BRCA2):c.7319A>C (p.His2440Pro) http://identifiers.org/clinvar/231093 ^@ NM_000059.3(BRCA2):c.8897T>C (p.Val2966Ala) http://identifiers.org/clinvar/233886 ^@ NM_000059.3(BRCA2):c.8952A>G (p.Ser2984=) http://identifiers.org/clinvar/230643 ^@ NM_000548.4(TSC2):c.4671C>G (p.Ser1557Arg) http://identifiers.org/clinvar/230043 ^@ NM_024675.3(PALB2):c.2470delT (p.Cys824Valfs) http://identifiers.org/clinvar/231143 ^@ NM_024675.3(PALB2):c.2411_2412delCT (p.Ser804Cysfs) http://identifiers.org/clinvar/230993 ^@ NM_004360.4(CDH1):c.1571G>A (p.Arg524Gln) http://identifiers.org/clinvar/233583 ^@ NM_004360.4(CDH1):c.1951A>G (p.Ile651Val) http://identifiers.org/clinvar/232633 ^@ NM_001042492.2(NF1):c.2821A>G (p.Ile941Val) http://identifiers.org/clinvar/232783 ^@ NM_001042492.2(NF1):c.4378C>T (p.His1460Tyr) http://identifiers.org/clinvar/233083 ^@ NM_001042492.2(NF1):c.5805C>T (p.Ser1935=) http://identifiers.org/clinvar/231443 ^@ NM_007294.3(BRCA1):c.4856C>T (p.Thr1619Ile) http://identifiers.org/clinvar/233033 ^@ NM_007294.3(BRCA1):c.1886G>T (p.Arg629Ile) http://identifiers.org/clinvar/233383 ^@ NM_058216.2(RAD51C):c.855G>T (p.Gln285His) http://identifiers.org/clinvar/231693 ^@ NM_032043.2(BRIP1):c.618G>A (p.Ser206=) http://identifiers.org/clinvar/232683 ^@ NM_000546.5(TP53):c.827C>A (p.Ala276Asp) http://identifiers.org/clinvar/233233 ^@ NM_000455.4(STK11):c.1017G>A (p.Pro339=) http://identifiers.org/clinvar/230943 ^@ NM_007194.3(CHEK2):c.52_84del33 (p.Cys18_Ser28del) http://identifiers.org/clinvar/235000 ^@ NM_000218.2(KCNQ1):c.1537A>T (p.Thr513Ser) http://identifiers.org/clinvar/235504 ^@ NM_000178.3(GSS):c.1388C>T (p.Ala463Val) http://identifiers.org/clinvar/235557 ^@ NM_020639.2(RIPK4):c.2101C>T (p.Pro701Ser) http://identifiers.org/clinvar/235608 ^@ NM_000481.3(AMT):c.898A>G (p.Met300Val) http://identifiers.org/clinvar/235660 ^@ NM_006015.4(ARID1A):c.1207C>T (p.Gln403Ter) http://identifiers.org/clinvar/235714 ^@ NM_000359.2(TGM1):c.1559A>G (p.Glu520Gly) http://identifiers.org/clinvar/235776 ^@ NM_022455.4(NSD1):c.4918T>A (p.Cys1640Ser) http://identifiers.org/clinvar/235848 ^@ NM_005710.2(PQBP1):c.731C>T (p.Pro244Leu) http://identifiers.org/clinvar/242396 ^@ NM_206933.2(USH2A):c.240_241insGTAC (p.Gln81Valfs) http://identifiers.org/clinvar/236032 ^@ NM_172105.3(EYA4):c.441delC (p.Tyr148Ilefs) http://identifiers.org/clinvar/236132 ^@ NM_000350.2(ABCA4):c.5478C>T (p.Asn1826=) http://identifiers.org/clinvar/236082 ^@ NM_000350.2(ABCA4):c.1584C>A (p.Tyr528Ter) http://identifiers.org/clinvar/236182 ^@ NM_004621.5(TRPC6):c.171-68G>A http://identifiers.org/clinvar/236270 ^@ NM_007294.3(BRCA1):c.2933dupA (p.Tyr978Terfs) http://identifiers.org/clinvar/236321 ^@ NC_000017.9:g.14040467_15411904dup1371438 http://identifiers.org/clinvar/236371 ^@ NC_000015.9:g.20306549_26208861dup5902313 http://identifiers.org/clinvar/236472 ^@ NM_201253.2(CRB1):c.807dupA (p.Pro270Thrfs) http://identifiers.org/clinvar/236522 ^@ NM_006017.2(PROM1):c.2309delC (p.Pro770Leufs) http://identifiers.org/clinvar/236422 ^@ NM_015629.3(PRPF31):c.121C>G (p.Leu41Val) http://identifiers.org/clinvar/240082 ^@ NM_004958.3(MTOR):c.831G>T (p.Met277Ile) http://identifiers.org/clinvar/241972 ^@ NM_152383.4(DIS3L2):c.2270delT (p.Phe757Serfs) http://identifiers.org/clinvar/239832 ^@ NM_004304.4(ALK):c.4190T>C (p.Leu1397Ser) http://identifiers.org/clinvar/241222 ^@ NM_017849.3(TMEM127):c.292G>A (p.Ala98Thr) http://identifiers.org/clinvar/241722 ^@ NM_032638.4(GATA2):c.279G>A (p.Pro93=) http://identifiers.org/clinvar/242172 ^@ NM_181426.1(CCDC39):c.232C>T (p.Arg78Cys) http://identifiers.org/clinvar/241072 ^@ NM_015896.3(ZMYND10):c.794C>T (p.Ala265Val) http://identifiers.org/clinvar/236572 ^@ NM_000038.5(APC):c.2228T>G (p.Met743Arg) http://identifiers.org/clinvar/236622 ^@ NM_000038.5(APC):c.5708A>G (p.Asn1903Ser) http://identifiers.org/clinvar/242222 ^@ NM_198253.2(TERT):c.2098C>T (p.Gln700Ter) http://identifiers.org/clinvar/239682 ^@ NM_004168.3(SDHA):c.724G>A (p.Gly242Arg) http://identifiers.org/clinvar/239632 ^@ NM_004100.4(EYA4):c.987G>T (p.Met329Ile) http://identifiers.org/clinvar/262771 ^@ NM_153717.2(EVC):c.2279G>A (p.Arg760Gln) http://identifiers.org/clinvar/259782 ^@ NM_005506.3(SCARB2):c.33G>T (p.Thr11=) http://identifiers.org/clinvar/261821 ^@ NM_025074.6(FRAS1):c.95A>G (p.Asp32Gly) http://identifiers.org/clinvar/262071 ^@ NM_032446.2(MEGF10):c.219-7T>C http://identifiers.org/clinvar/261671 ^@ NM_023073.3(C5orf42):c.4403C>G (p.Ser1468Cys) http://identifiers.org/clinvar/262171 ^@ NM_033071.3(SYNE1):c.16993+20G>A http://identifiers.org/clinvar/261121 ^@ NM_019105.6(TNXB):c.12204+39dupA http://identifiers.org/clinvar/261171 ^@ NM_019105.6(TNXB):c.8785+35G>A http://identifiers.org/clinvar/260182 ^@ NM_012120.2(CD2AP):c.1275-18G>A http://identifiers.org/clinvar/262421 ^@ NM_138694.3(PKHD1):c.8441-32G>C http://identifiers.org/clinvar/259331 ^@ NM_004370.5(COL12A1):c.4245T>C (p.Tyr1415=) http://identifiers.org/clinvar/259381 ^@ NM_004415.3(DSP):c.1141-44C>T http://identifiers.org/clinvar/255432 ^@ NM_000168.5(GLI3):c.2802G>A (p.Ala934=) http://identifiers.org/clinvar/261971 ^@ NM_031443.3(CCM2):c.358G>A (p.Val120Ile) http://identifiers.org/clinvar/260332 ^@ NM_014112.4(TRPS1):c.2823+15C>A http://identifiers.org/clinvar/259281 ^@ NM_004315.5(ASAH1):c.505+45A>G http://identifiers.org/clinvar/261321 ^@ NM_020476.2(ANK1):c.654C>A (p.Asn218Lys) http://identifiers.org/clinvar/262021 ^@ NM_032237.4(POMK):c.624G>C (p.Leu208=) http://identifiers.org/clinvar/259431 ^@ NM_004560.3(ROR2):c.494+25G>A http://identifiers.org/clinvar/260382 ^@ NM_014290.2(TDRD7):c.33A>G (p.Leu11=) http://identifiers.org/clinvar/262121 ^@ NM_032844.4(MASTL):c.2480-33T>C http://identifiers.org/clinvar/260232 ^@ NM_012330.3(KAT6B):c.1062-16C>G http://identifiers.org/clinvar/260032 ^@ NM_006757.3(TNNT3):c.83-48A>G http://identifiers.org/clinvar/259631 ^@ NM_005055.4(RAPSN):c.790-5T>C http://identifiers.org/clinvar/259832 ^@ NM_005609.3(PYGM):c.1621-19delT http://identifiers.org/clinvar/262221 ^@ NM_033124.4(CCDC65):c.880C>T (p.Arg294Cys) http://identifiers.org/clinvar/261071 ^@ NM_018979.3(WNK1):c.3489+4C>T http://identifiers.org/clinvar/260132 ^@ NM_007129.3(ZIC2):c.282G>C (p.Ala94=) http://identifiers.org/clinvar/261621 ^@ NM_022489.3(INF2):c.3747G>A (p.Gln1249=) http://identifiers.org/clinvar/259982 ^@ NM_006432.3(NPC2):c.190+14G>A http://identifiers.org/clinvar/261921 ^@ NM_030621.4(DICER1):c.3033G>A (p.Ala1011=) http://identifiers.org/clinvar/262371 ^@ NM_138477.2(CDAN1):c.2408-3C>T http://identifiers.org/clinvar/335018 ^@ NM_005199.4(CHRNG):c.*126C>T http://identifiers.org/clinvar/332577 ^@ NM_003659.3(AGPS):c.*2730G>A http://identifiers.org/clinvar/332927 ^@ NM_133378.4(TTN):c.12543G>A (p.Gly4181=) http://identifiers.org/clinvar/332627 ^@ NM_003690.4(PRKRA):c.515-11delT http://identifiers.org/clinvar/335818 ^@ NM_000348.3(SRD5A2):c.230G>A (p.Gly77Glu) http://identifiers.org/clinvar/335918 ^@ NM_000104.3(CYP1B1):c.*1938G>A http://identifiers.org/clinvar/335218 ^@ NM_004321.7(KIF1A):c.*2851G>A http://identifiers.org/clinvar/333127 ^@ NM_000393.4(COL5A2):c.*211T>A http://identifiers.org/clinvar/335468 ^@ NM_194248.2(OTOF):c.-73G>A http://identifiers.org/clinvar/333077 ^@ NM_000090.3(COL3A1):c.*317C>A http://identifiers.org/clinvar/335618 ^@ NM_001029883.2(C2orf71):c.*903A>G http://identifiers.org/clinvar/335668 ^@ NM_001029883.2(C2orf71):c.679G>A (p.Glu227Lys) http://identifiers.org/clinvar/335768 ^@ NM_000379.3(XDH):c.2911G>A (p.Glu971Lys) http://identifiers.org/clinvar/335868 ^@ NM_014946.3(SPAST):c.*1783C>T http://identifiers.org/clinvar/337214 ^@ NM_000821.6(GGCX):c.*2647T>C http://identifiers.org/clinvar/334768 ^@ NM_000091.4(COL4A3):c.2747-11C>A http://identifiers.org/clinvar/334818 ^@ NM_000091.4(COL4A3):c.*2145A>C http://identifiers.org/clinvar/337314 ^@ NM_198843.2(SFTPB):c.6C>T (p.His2=) http://identifiers.org/clinvar/334718 ^@ NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) http://identifiers.org/clinvar/335118 ^@ NM_004369.3(COL6A3):c.5655G>C (p.Val1885=) http://identifiers.org/clinvar/342954 ^@ NM_000373.3(UMPS):c.*1299delT http://identifiers.org/clinvar/343054 ^@ NM_025265.3(TSEN2):c.-373C>T http://identifiers.org/clinvar/335318 ^@ NM_152783.4(D2HGDH):c.1199A>G (p.Tyr400Cys) http://identifiers.org/clinvar/343154 ^@ NM_004637.5(RAB7A):c.-97C>G http://identifiers.org/clinvar/335368 ^@ NM_000182.4(HADHA):c.*389C>G http://identifiers.org/clinvar/334968 ^@ NM_000751.2(CHRND):c.893G>A (p.Arg298His) http://identifiers.org/clinvar/335068 ^@ NM_000541.4(SAG):c.321G>C (p.Leu107=) http://identifiers.org/clinvar/335568 ^@ NM_144631.5(ZNF513):c.-213G>A http://identifiers.org/clinvar/335168 ^@ NM_004544.3(NDUFA10):c.*2309G>A http://identifiers.org/clinvar/335268 ^@ NM_004321.7(KIF1A):c.3438C>T (p.Ala1146=) http://identifiers.org/clinvar/335718 ^@ NM_004304.4(ALK):c.32C>T (p.Pro11Leu) http://identifiers.org/clinvar/343604 ^@ NM_001184.3(ATR):c.4407C>T (p.Thr1469=) http://identifiers.org/clinvar/343804 ^@ NM_174878.2(CLRN1):c.*372C>T http://identifiers.org/clinvar/343954 ^@ NM_020800.2(IFT80):c.*844G>T http://identifiers.org/clinvar/335968 ^@ NM_005633.3(SOS1):c.*3727G>C http://identifiers.org/clinvar/344104 ^@ NM_145860.1(PDCD10):c.*174C>T http://identifiers.org/clinvar/354620 ^@ NM_000439.4(PCSK1):c.*1401C>T http://identifiers.org/clinvar/350623 ^@ NM_005573.3(LMNB1):c.*239C>T http://identifiers.org/clinvar/357560 ^@ NM_001723.5(DST):c.5930C>G (p.Thr1977Arg) http://identifiers.org/clinvar/354720 ^@ NM_001491.2(GCNT2):c.*671C>T http://identifiers.org/clinvar/354770 ^@ NM_001242957.2(MAK):c.*1436_*1438delACT http://identifiers.org/clinvar/350873 ^@ NM_000358.2(TGFBI):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/354970 ^@ NM_014028.3(OSTM1):c.*1023A>G http://identifiers.org/clinvar/350923 ^@ NM_017415.2(KLHL3):c.*4210A>G http://identifiers.org/clinvar/355070 ^@ NM_000493.3(COL10A1):c.*1025C>T http://identifiers.org/clinvar/351173 ^@ NM_199189.2(MATR3):c.*1482A>T http://identifiers.org/clinvar/351323 ^@ NM_001018077.1(NR3C1):c.*3077G>A http://identifiers.org/clinvar/351223 ^@ NM_002488.4(NDUFA2):c.191A>G (p.Lys64Arg) http://identifiers.org/clinvar/358599 ^@ NM_014491.3(FOXP2):c.-99G>A http://identifiers.org/clinvar/351273 ^@ NM_005219.4(DIAPH1):c.*755T>C http://identifiers.org/clinvar/351373 ^@ NM_001018077.1(NR3C1):c.753G>A (p.Pro251=) http://identifiers.org/clinvar/358799 ^@ NM_006193.2(PAX4):c.748-3delT http://identifiers.org/clinvar/355810 ^@ NM_033071.3(SYNE1):c.24926G>A (p.Arg8309His) http://identifiers.org/clinvar/351573 ^@ NM_024577.3(SH3TC2):c.*21786G>A http://identifiers.org/clinvar/358949 ^@ NM_018718.2(CEP41):c.-178C>A http://identifiers.org/clinvar/359099 ^@ NM_000083.2(CLCN1):c.450C>T (p.Tyr150=) http://identifiers.org/clinvar/355960 ^@ NM_032122.4(DTNBP1):c.*105A>G http://identifiers.org/clinvar/356110 ^@ NM_000367.4(TPMT):c.*60T>C http://identifiers.org/clinvar/356210 ^@ NM_001109809.2(ZFP57):c.*55T>C http://identifiers.org/clinvar/359499 ^@ NM_001101426.3(ISPD):c.*3191C>A http://identifiers.org/clinvar/359549 ^@ NM_001101426.3(ISPD):c.*2127_*2128delAT http://identifiers.org/clinvar/359649 ^@ NM_001277115.1(DNAH11):c.6867A>G (p.Ala2289=) http://identifiers.org/clinvar/356410 ^@ NM_080680.2(COL11A2):c.830C>A (p.Pro277His) http://identifiers.org/clinvar/356610 ^@ NM_005943.5(MOCS1):c.*1885A>C http://identifiers.org/clinvar/356960 ^@ NM_006502.2(POLH):c.*2080G>T http://identifiers.org/clinvar/360638 ^@ NM_000501.3(ELN):c.861G>A (p.Gly287=) http://identifiers.org/clinvar/361138 ^@ NM_015713.4(RRM2B):c.*2822A>T http://identifiers.org/clinvar/361238 ^@ NM_178857.5(RP1L1):c.5821C>G (p.Gln1941Glu) http://identifiers.org/clinvar/361439 ^@ NM_178857.5(RP1L1):c.-165G>A http://identifiers.org/clinvar/361489 ^@ NM_001715.2(BLK):c.974A>C (p.Lys325Thr) http://identifiers.org/clinvar/361748 ^@ NM_004519.3(KCNQ3):c.*7689A>G http://identifiers.org/clinvar/353870 ^@ NM_176806.3(MOCS2):c.*900delG http://identifiers.org/clinvar/306243 ^@ NM_024698.5(SLC25A22):c.*780C>T http://identifiers.org/clinvar/363987 ^@ NM_177965.3(C8orf37):c.*1949C>G http://identifiers.org/clinvar/306494 ^@ NM_005591.3(MRE11):c.545-13A>G http://identifiers.org/clinvar/300040 ^@ NM_000124.3(ERCC6):c.3965G>T (p.Gly1322Val) http://identifiers.org/clinvar/300090 ^@ NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) http://identifiers.org/clinvar/306594 ^@ NM_030962.3(SBF2):c.2611-19_2611-16delAATC http://identifiers.org/clinvar/306794 ^@ NM_024312.4(GNPTAB):c.3693G>C (p.Gln1231His) http://identifiers.org/clinvar/306844 ^@ NM_000618.4(IGF1):c.*5187A>G http://identifiers.org/clinvar/300290 ^@ NM_018055.4(NODAL):c.*678G>A http://identifiers.org/clinvar/300340 ^@ NM_001083116.1(PRF1):c.-109G>A http://identifiers.org/clinvar/306994 ^@ NM_080911.2(UNG):c.*788dupT http://identifiers.org/clinvar/300390 ^@ NM_022124.5(CDH23):c.-176_-170dupGAGCGGC http://identifiers.org/clinvar/300740 ^@ NM_002658.4(PLAU):c.43G>T (p.Val15Leu) http://identifiers.org/clinvar/308483 ^@ NM_004572.3(PKP2):c.*910C>A http://identifiers.org/clinvar/308833 ^@ NM_001017535.1(VDR):c.*2100_*2105delTACAAA http://identifiers.org/clinvar/301779 ^@ NM_002860.3(ALDH18A1):c.-69_-66dupCGCG http://identifiers.org/clinvar/309333 ^@ NM_002234.3(KCNA5):c.140A>G (p.Lys47Arg) http://identifiers.org/clinvar/309283 ^@ NM_000617.2(SLC11A2):c.*1599C>T http://identifiers.org/clinvar/301879 ^@ NM_004621.5(TRPC6):c.*1038T>G http://identifiers.org/clinvar/309483 ^@ NM_000020.2(ACVRL1):c.*2380C>G http://identifiers.org/clinvar/309583 ^@ NM_000423.2(KRT2):c.*411C>T http://identifiers.org/clinvar/302129 ^@ NM_001080463.1(DYNC2H1):c.12838A>C (p.Thr4280Pro) http://identifiers.org/clinvar/302329 ^@ NM_002906.3(RDX):c.*1242_*1245delGAGA http://identifiers.org/clinvar/302379 ^@ NM_024740.2(ALG9):c.*2496_*2500delATATA http://identifiers.org/clinvar/302479 ^@ NM_001931.4(DLAT):c.*1595G>A http://identifiers.org/clinvar/306694 ^@ NM_018979.3(WNK1):c.*1342G>T http://identifiers.org/clinvar/302879 ^@ NM_005188.3(CBL):c.*6008T>C http://identifiers.org/clinvar/366937 ^@ NM_001042413.1(GLIS3):c.*1286G>A http://identifiers.org/clinvar/314316 ^@ NM_000428.2(LTBP2):c.800C>T (p.Ser267Leu) http://identifiers.org/clinvar/322051 ^@ NM_144997.5(FLCN):c.*442T>C http://identifiers.org/clinvar/322101 ^@ NM_016239.3(MYO15A):c.-227G>A http://identifiers.org/clinvar/322251 ^@ NM_000430.3(PAFAH1B1):c.-306C>A http://identifiers.org/clinvar/313466 ^@ NM_005982.3(SIX1):c.180C>G (p.Arg60=) http://identifiers.org/clinvar/313616 ^@ NM_182914.2(SYNE2):c.16194C>T (p.Ala5398=) http://identifiers.org/clinvar/313766 ^@ NM_000347.5(SPTB):c.1493G>A (p.Arg498His) http://identifiers.org/clinvar/313866 ^@ NM_015346.3(ZFYVE26):c.*365A>G http://identifiers.org/clinvar/323590 ^@ NM_213607.2(CCDC103):c.*789C>A http://identifiers.org/clinvar/367816 ^@ NM_001167.3(XIAP):c.*2845C>T http://identifiers.org/clinvar/314216 ^@ NM_182894.2(VSX2):c.*855G>A http://identifiers.org/clinvar/324146 ^@ NM_053013.3(ENO3):c.789G>C (p.Ser263=) http://identifiers.org/clinvar/314366 ^@ NM_001040108.1(MLH3):c.*889G>A http://identifiers.org/clinvar/324247 ^@ NM_018488.3(TBX4):c.187-15C>T http://identifiers.org/clinvar/324297 ^@ NM_032043.2(BRIP1):c.*3307T>C http://identifiers.org/clinvar/324349 ^@ NM_032043.2(BRIP1):c.3020C>A (p.Ser1007Tyr) http://identifiers.org/clinvar/324399 ^@ NM_000789.3(ACE):c.2582A>T (p.His861Leu) http://identifiers.org/clinvar/324599 ^@ NM_014336.4(AIPL1):c.*153_*155delCAA http://identifiers.org/clinvar/314816 ^@ NM_018319.3(TDP1):c.-230-4G>T http://identifiers.org/clinvar/324799 ^@ NM_002734.4(PRKAR1A):c.*847A>G http://identifiers.org/clinvar/324949 ^@ NM_000346.3(SOX9):c.*1989delT http://identifiers.org/clinvar/325099 ^@ NM_207346.2(TSEN54):c.*167T>C http://identifiers.org/clinvar/325199 ^@ NM_001005731.2(ITGB4):c.4497C>T (p.Gly1499=) http://identifiers.org/clinvar/315855 ^@ NM_144508.4(KNL1):c.2949A>G (p.Leu983=) http://identifiers.org/clinvar/315955 ^@ NM_138477.2(CDAN1):c.237G>C (p.Ser79=) http://identifiers.org/clinvar/316355 ^@ NM_000138.4(FBN1):c.*286C>T http://identifiers.org/clinvar/372863 ^@ NM_006912.5(RIT1):c.245T>G (p.Phe82Cys) http://identifiers.org/clinvar/373716 ^@ NM_018328.4(MBD5):c.1811delA (p.Asn604Ilefs) http://identifiers.org/clinvar/372556 ^@ NM_021007.2(SCN2A):c.4861T>C (p.Ser1621Pro) http://identifiers.org/clinvar/373166 ^@ NM_016953.3(PDE11A):c.497C>T (p.Pro166Leu) http://identifiers.org/clinvar/373366 ^@ NM_004369.3(COL6A3):c.8596C>T (p.Pro2866Ser) http://identifiers.org/clinvar/373566 ^@ NM_020800.2(IFT80):c.869dupA (p.Asn290Lysfs) http://identifiers.org/clinvar/372966 ^@ NM_001165963.1(SCN1A):c.4321G>A (p.Ala1441Thr) http://identifiers.org/clinvar/373316 ^@ NM_001134745.2(LRRTM4):c.343delA (p.Ile115Phefs) http://identifiers.org/clinvar/373066 ^@ NM_003108.3(SOX11):c.594C>A (p.Tyr198Ter) http://identifiers.org/clinvar/373416 ^@ NM_012464.4(TLL1):c.544A>G (p.Met182Val) http://identifiers.org/clinvar/373266 ^@ NM_021167.4(GATAD1):c.233delG (p.Gly78Alafs) http://identifiers.org/clinvar/373116 ^@ NM_017890.4(VPS13B):c.11246_11249dupAGGG (p.Leu3751Glyfs) http://identifiers.org/clinvar/372397 ^@ NM_194456.1(KRIT1):c.907_913delTTACTAA (p.Leu303Alafs) http://identifiers.org/clinvar/373516 ^@ NM_170665.3(ATP2A2):c.1543-2A>C http://identifiers.org/clinvar/372710 ^@ NM_000256.3(MYBPC3):c.236dupA (p.Tyr79Terfs) http://identifiers.org/clinvar/372657 ^@ NM_005188.3(CBL):c.2677C>T (p.Arg893Trp) http://identifiers.org/clinvar/372915 ^@ NM_005188.3(CBL):c.2504G>A (p.Arg835Gln) http://identifiers.org/clinvar/373466 ^@ NM_002334.3(LRP4):c.5513G>A (p.Arg1838Gln) http://identifiers.org/clinvar/373616 ^@ NM_018451.4(CENPJ):c.1273G>A (p.Ala425Thr) http://identifiers.org/clinvar/372760 ^@ NM_000552.4(VWF):c.7988G>C (p.Arg2663Pro) http://identifiers.org/clinvar/373216 ^@ NM_014844.4(TECPR2):c.1861T>G (p.Ser621Ala) http://identifiers.org/clinvar/372606 ^@ NM_000138.4(FBN1):c.7879G>C (p.Gly2627Arg) http://identifiers.org/clinvar/373016 ^@ NM_152594.2(SPRED1):c.-22A>C http://identifiers.org/clinvar/372504 ^@ NM_000339.2(SLC12A3):c.2883+1G>T http://identifiers.org/clinvar/372810 ^@ NM_030773.3(TUBB1):c.779T>C (p.Phe260Ser) http://identifiers.org/clinvar/373666 ^@ NM_000169.2(GLA):c.994_995delAGinsGA (p.Arg332Glu) http://identifiers.org/clinvar/372451 ^@ NM_000444.5(PHEX):c.436+1G>C http://identifiers.org/clinvar/374450 ^@ NM_005249.4(FOXG1):c.885delCinsCC (p.Gly296Argfs) http://identifiers.org/clinvar/374500 ^@ NM_015386.2(COG4):c.558T>C (p.Asp186=) http://identifiers.org/clinvar/374550 ^@ NM_005422.2(TECTA):c.2358delG (p.Glu787Lysfs) http://identifiers.org/clinvar/374600 ^@ NM_032409.2(PINK1):c.802C>G (p.Leu268Val) http://identifiers.org/clinvar/374650 ^@ NM_001849.3(COL6A2):c.1142G>C (p.Arg381Thr) http://identifiers.org/clinvar/374700 ^@ NM_004380.2(CREBBP):c.4459C>T (p.His1487Tyr) http://identifiers.org/clinvar/374750 ^@ NM_000045.3(ARG1):c.83C>T (p.Pro28Leu) http://identifiers.org/clinvar/374919 ^@ NM_001128608.1(MAPKBP1):c.2444-1G>A http://identifiers.org/clinvar/374977 ^@ NM_005359.5(SMAD4):c.463A>G (p.Ser155Gly) http://identifiers.org/clinvar/375252 ^@ NM_000243.2(MEFV):c.1211A>G (p.His404Arg) http://identifiers.org/clinvar/375310 ^@ NM_015692.2(CPAMD8):c.2352dupC (p.Arg785Glnfs) http://identifiers.org/clinvar/375363 ^@ NM_000520.5(HEXA):c.1360G>C (p.Gly454Arg) http://identifiers.org/clinvar/375414 ^@ NM_001033053.2(NLRP1):c.197C>T (p.Ala66Val) http://identifiers.org/clinvar/375476 ^@ NM_152365.2(KDF1):c.753C>A (p.Phe251Leu) http://identifiers.org/clinvar/375537 ^@ NM_000834.3(GRIN2B):c.4315C>G (p.Pro1439Ala) http://identifiers.org/clinvar/375601 ^@ NM_002485.4(NBN):c.330T>G (p.Tyr110Ter) http://identifiers.org/clinvar/375655 ^@ NM_000795.3(DRD2):c.811-83G>T http://identifiers.org/clinvar/375746 ^@ NM_000517.4(HBA2):c.95+2_95+6delTGAGG http://identifiers.org/clinvar/375849 ^@ NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) http://identifiers.org/clinvar/375799 ^@ NM_000527.4(LDLR):c.743G>C (p.Cys248Ser) http://identifiers.org/clinvar/375902 ^@ NM_006206.4(PDGFRA):c.1977C>G (p.Asn659Lys) http://identifiers.org/clinvar/392834 ^@ NM_015120.4(ALMS1):c.1200A>G (p.Thr400=) http://identifiers.org/clinvar/385317 ^@ NM_000179.2(MSH6):c.-46T>G http://identifiers.org/clinvar/384667 ^@ NM_000251.2(MSH2):c.2028A>G (p.Ser676=) http://identifiers.org/clinvar/392734 ^@ NM_001044385.2(TMEM237):c.678-4T>G http://identifiers.org/clinvar/389795 ^@ NM_033109.4(PNPT1):c.1496-10C>T http://identifiers.org/clinvar/392134 ^@ NM_001002755.2(NFU1):c.-21C>T http://identifiers.org/clinvar/385167 ^@ NM_000551.3(VHL):c.48G>A (p.Glu16=) http://identifiers.org/clinvar/381572 ^@ NM_000551.3(VHL):c.420C>A (p.Leu140=) http://identifiers.org/clinvar/392784 ^@ NM_015560.2(OPA1):c.1003C>T (p.Pro335Ser) http://identifiers.org/clinvar/392384 ^@ NM_001457.3(FLNB):c.4066G>A (p.Ala1356Thr) http://identifiers.org/clinvar/392484 ^@ NM_000251.2(MSH2):c.-11G>A http://identifiers.org/clinvar/390195 ^@ NM_006371.4(CRTAP):c.636A>C (p.Arg212=) http://identifiers.org/clinvar/385417 ^@ NM_000249.3(MLH1):c.380+17T>C http://identifiers.org/clinvar/381372 ^@ NM_198056.2(SCN5A):c.3111C>A (p.Gly1037=) http://identifiers.org/clinvar/391934 ^@ NM_052859.3(RFT1):c.1324C>T (p.Arg442Trp) http://identifiers.org/clinvar/390645 ^@ NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) http://identifiers.org/clinvar/390595 ^@ NM_024582.4(FAT4):c.1296T>C (p.Pro432=) http://identifiers.org/clinvar/390545 ^@ NM_024582.4(FAT4):c.5598G>A (p.Thr1866=) http://identifiers.org/clinvar/390395 ^@ NM_012224.2(NEK1):c.-9A>G http://identifiers.org/clinvar/387606 ^@ NM_001999.3(FBN2):c.3322A>C (p.Met1108Leu) http://identifiers.org/clinvar/381222 ^@ NM_183357.2(ADCY5):c.1902G>C (p.Glu634Asp) http://identifiers.org/clinvar/387906 ^@ NM_002185.3(IL7R):c.831C>T (p.Pro277=) http://identifiers.org/clinvar/387706 ^@ NM_023073.3(C5orf42):c.5651A>C (p.Lys1884Thr) http://identifiers.org/clinvar/387006 ^@ NM_032446.2(MEGF10):c.303C>T (p.Ser101=) http://identifiers.org/clinvar/391734 ^@ NM_001184.3(ATR):c.2342-20T>C http://identifiers.org/clinvar/379980 ^@ NM_004130.3(GYG1):c.552G>A (p.Pro184=) http://identifiers.org/clinvar/391684 ^@ NM_020166.4(MCCC1):c.-42C>T http://identifiers.org/clinvar/392334 ^@ NM_000816.3(GABRG2):c.1260T>C (p.Cys420=) http://identifiers.org/clinvar/387756 ^@ NM_001167734.1(VARS2):c.3181-10C>T http://identifiers.org/clinvar/391484 ^@ NM_019105.6(TNXB):c.6367G>A (p.Asp2123Asn) http://identifiers.org/clinvar/388006 ^@ NM_033071.3(SYNE1):c.21261G>A (p.Leu7087=) http://identifiers.org/clinvar/390145 ^@ NM_006073.3(TRDN):c.1951+16G>A http://identifiers.org/clinvar/381422 ^@ NM_012160.4(FBXL4):c.*3T>C http://identifiers.org/clinvar/390245 ^@ NM_002047.3(GARS):c.492C>G (p.Thr164=) http://identifiers.org/clinvar/387106 ^@ NM_012470.3(TNPO3):c.-36A>G http://identifiers.org/clinvar/386067 ^@ NM_000443.3(ABCB4):c.1143A>G (p.Ser381=) http://identifiers.org/clinvar/385717 ^@ NM_001458.4(FLNC):c.6175G>A (p.Val2059Met) http://identifiers.org/clinvar/384917 ^@ NM_002485.4(NBN):c.171+12A>G http://identifiers.org/clinvar/390695 ^@ NM_000035.3(ALDOB):c.522C>T (p.Tyr174=) http://identifiers.org/clinvar/387856 ^@ NM_004408.3(DNM1):c.386-14G>A http://identifiers.org/clinvar/385767 ^@ NM_000535.6(PMS2):c.2175-9G>A http://identifiers.org/clinvar/387656 ^@ NM_024790.6(CSPP1):c.-12C>T http://identifiers.org/clinvar/379729 ^@ NM_000445.4(PLEC):c.4667G>A (p.Arg1556His) http://identifiers.org/clinvar/390045 ^@ NM_000426.3(LAMA2):c.4436+6A>G http://identifiers.org/clinvar/392234 ^@ NM_017617.4(NOTCH1):c.2353+14G>A http://identifiers.org/clinvar/385617 ^@ NM_000136.2(FANCC):c.1035T>G (p.Ser345=) http://identifiers.org/clinvar/393184 ^@ NM_004370.5(COL12A1):c.7477G>A (p.Glu2493Lys) http://identifiers.org/clinvar/390345 ^@ NM_004408.3(DNM1):c.1422+7C>A http://identifiers.org/clinvar/389495 ^@ NM_020822.2(KCNT1):c.1338-3C>T http://identifiers.org/clinvar/386017 ^@ NM_201590.2(CACNB2):c.-200095G>A http://identifiers.org/clinvar/133009 ^@ NM_000540.2(RYR1):c.1122+95T>C http://identifiers.org/clinvar/133059 ^@ NM_000540.2(RYR1):c.14201G>A (p.Gly4734Glu) http://identifiers.org/clinvar/133109 ^@ NM_000540.2(RYR1):c.1878T>G (p.Pro626=) http://identifiers.org/clinvar/133209 ^@ NM_000540.2(RYR1):c.7584C>T (p.Pro2528=) http://identifiers.org/clinvar/133845 ^@ NM_004360.4(CDH1):c.1370C>T (p.Thr457Met) http://identifiers.org/clinvar/133895 ^@ NM_015125.4(CIC):c.2105A>G (p.Asn702Ser) http://identifiers.org/clinvar/133945 ^@ NM_004380.2(CREBBP):c.2068G>T (p.Ala690Ser) http://identifiers.org/clinvar/133995 ^@ NM_001077706.2(ECT2L):c.1780G>A (p.Ala594Thr) http://identifiers.org/clinvar/134045 ^@ NM_001429.3(EP300):c.752A>G (p.Asn251Ser) http://identifiers.org/clinvar/134097 ^@ NM_000400.3(ERCC2):c.1802G>A (p.Arg601Gln) http://identifiers.org/clinvar/134147 ^@ NM_005236.2(ERCC4):c.988G>C (p.Asp330His) http://identifiers.org/clinvar/134197 ^@ NM_000127.2(EXT1):c.122G>A (p.Ser41Asn) http://identifiers.org/clinvar/134247 ^@ NM_000135.2(FANCA):c.1927C>G (p.Pro643Ala) http://identifiers.org/clinvar/134298 ^@ NM_000136.2(FANCC):c.1345G>A (p.Val449Met) http://identifiers.org/clinvar/134349 ^@ NM_022725.3(FANCF):c.557C>T (p.Ala186Val) http://identifiers.org/clinvar/134399 ^@ NM_000142.4(FGFR3):c.193G>A (p.Gly65Arg) http://identifiers.org/clinvar/134449 ^@ NM_004119.2(FLT3):c.784C>T (p.Leu262Phe) http://identifiers.org/clinvar/134499 ^@ NM_001077490.2(GNAS):c.474G>A (p.Leu158=) http://identifiers.org/clinvar/134549 ^@ NM_002227.3(JAK1):c.1078C>T (p.Arg360Trp) http://identifiers.org/clinvar/134599 ^@ NM_001291415.1(KDM6A):c.3335A>T (p.His1112Leu) http://identifiers.org/clinvar/134650 ^@ NM_001127500.2(MET):c.4027G>A (p.Glu1343Lys) http://identifiers.org/clinvar/134701 ^@ NM_003482.3(KMT2D):c.6832T>G (p.Phe2278Val) http://identifiers.org/clinvar/134752 ^@ NM_170606.2(KMT2C):c.5357_5358insACA (p.Gln1787_Phe1788insGln) http://identifiers.org/clinvar/134802 ^@ NM_170606.2(KMT2C):c.10639T>C (p.Ser3547Pro) http://identifiers.org/clinvar/134855 ^@ NM_000179.2(MSH6):c.3233T>C (p.Val1078Ala) http://identifiers.org/clinvar/134906 ^@ NM_006164.4(NFE2L2):c.802G>A (p.Val268Met) http://identifiers.org/clinvar/134956 ^@ NM_017617.4(NOTCH1):c.6980G>A (p.Arg2327Gln) http://identifiers.org/clinvar/135006 ^@ NM_018313.4(PBRM1):c.1097A>G (p.Tyr366Cys) http://identifiers.org/clinvar/135056 ^@ NM_000534.4(PMS1):c.1744G>A (p.Val582Ile) http://identifiers.org/clinvar/135107 ^@ NM_000264.3(PTCH1):c.4303G>A (p.Val1435Met) http://identifiers.org/clinvar/135158 ^@ NM_004260.3(RECQL4):c.212A>G (p.Glu71Gly) http://identifiers.org/clinvar/135189 ^@ NM_020975.4(RET):c.1438G>A (p.Glu480Lys) http://identifiers.org/clinvar/135239 ^@ NM_014159.6(SETD2):c.4193T>C (p.Ile1398Thr) http://identifiers.org/clinvar/135290 ^@ NM_001127208.2(TET2):c.5453A>T (p.Lys1818Ile) http://identifiers.org/clinvar/135340 ^@ NM_006290.3(TNFAIP3):c.1771C>G (p.Leu591Val) http://identifiers.org/clinvar/135391 ^@ NM_000369.2(TSHR):c.145A>G (p.Ser49Gly) http://identifiers.org/clinvar/135441 ^@ NM_000553.4(WRN):c.4051G>A (p.Ala1351Thr) http://identifiers.org/clinvar/135491 ^@ NM_004628.4(XPC):c.1841T>C (p.Phe614Ser) http://identifiers.org/clinvar/135541 ^@ NM_000135.2(FANCA):c.3934+55T>A http://identifiers.org/clinvar/135605 ^@ NM_002136.3(HNRNPA1):c.896C>T (p.Pro299Leu) http://identifiers.org/clinvar/135675 ^@ NM_001042498.2(SLC35A2):c.972delT (p.Phe324Leufs) http://identifiers.org/clinvar/135727 ^@ NM_000038.5(APC):c.8477G>A (p.Ser2826Asn) http://identifiers.org/clinvar/135778 ^@ NM_000051.3(ATM):c.7788G>A (p.Glu2596=) http://identifiers.org/clinvar/135836 ^@ NM_000179.2(MSH6):c.2561_2562delAGinsTT (p.Lys854Ile) http://identifiers.org/clinvar/135886 ^@ NM_000264.3(PTCH1):c.2887+10G>A http://identifiers.org/clinvar/135936 ^@ NM_000535.6(PMS2):c.1376C>A (p.Ser459Ter) http://identifiers.org/clinvar/135988 ^@ NM_001128425.1(MUTYH):c.607C>T (p.Arg203Cys) http://identifiers.org/clinvar/136038 ^@ NM_002485.4(NBN):c.1845+3A>G http://identifiers.org/clinvar/136089 ^@ NM_007294.3(BRCA1):c.5157G>A (p.Val1719=) http://identifiers.org/clinvar/136139 ^@ NM_024675.3(PALB2):c.769G>A (p.Gly257Ser) http://identifiers.org/clinvar/136199 ^@ NM_130838.1(UBE3A):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/136250 ^@ NM_020297.3(ABCC9):c.2643+17G>C http://identifiers.org/clinvar/187632 ^@ NM_001042492.2(NF1):c.6955G>A (p.Ala2319Thr) http://identifiers.org/clinvar/185941 ^@ NM_001042492.2(NF1):c.7988C>T (p.Ser2663Phe) http://identifiers.org/clinvar/185341 ^@ NM_002878.3(RAD51D):c.145-4_145-3delGCinsTT http://identifiers.org/clinvar/187732 ^@ NM_007294.3(BRCA1):c.3248T>C (p.Met1083Thr) http://identifiers.org/clinvar/185491 ^@ NM_007294.3(BRCA1):c.2500G>C (p.Gly834Arg) http://identifiers.org/clinvar/187382 ^@ NM_058216.2(RAD51C):c.340G>A (p.Gly114Arg) http://identifiers.org/clinvar/184991 ^@ NM_058216.2(RAD51C):c.621T>A (p.His207Gln) http://identifiers.org/clinvar/185741 ^@ NM_032043.2(BRIP1):c.158_159delGCinsTT (p.Ser53Ile) http://identifiers.org/clinvar/187032 ^@ NM_032043.2(BRIP1):c.29T>C (p.Ile10Thr) http://identifiers.org/clinvar/185841 ^@ NM_005359.5(SMAD4):c.1547A>G (p.Gln516Arg) http://identifiers.org/clinvar/187786 ^@ NM_030813.5(CLPB):c.1249C>T (p.Arg417Ter) http://identifiers.org/clinvar/187865 ^@ NM_005957.4(MTHFR):c.-13-28_-13-27delCT http://identifiers.org/clinvar/187915 ^@ NM_004409.4(DMPK):c.*224_*226[123] http://identifiers.org/clinvar/187965 ^@ NM_004409.4(DMPK):c.*224_*226[353] http://identifiers.org/clinvar/188015 ^@ NM_004409.4(DMPK):c.*224_*226[62] http://identifiers.org/clinvar/188116 ^@ NM_000179.2(MSH6):c.3844A>C (p.Thr1282Pro) http://identifiers.org/clinvar/188167 ^@ NM_000038.5(APC):c.925G>T (p.Gly309Ter) http://identifiers.org/clinvar/188272 ^@ NM_000264.3(PTCH1):c.113G>T (p.Gly38Val) http://identifiers.org/clinvar/188065 ^@ NM_000075.3(CDK4):c.*5T>C http://identifiers.org/clinvar/188218 ^@ NM_004360.4(CDH1):c.1738A>G (p.Thr580Ala) http://identifiers.org/clinvar/188324 ^@ NM_032043.2(BRIP1):c.617C>T (p.Ser206Leu) http://identifiers.org/clinvar/189950 ^@ NM_001165963.1(SCN1A):c.2603delA (p.Lys868Serfs) http://identifiers.org/clinvar/189900 ^@ NM_001165963.1(SCN1A):c.2213G>T (p.Trp738Leu) http://identifiers.org/clinvar/190000 ^@ NM_001165963.1(SCN1A):c.1439_1442delCAGA (p.Asp481Alafs) http://identifiers.org/clinvar/190121 ^@ NM_004958.3(MTOR):c.4448G>T (p.Cys1483Phe) http://identifiers.org/clinvar/242603 ^@ NC_000018.9:g.73376178_78077248del4701071 http://identifiers.org/clinvar/228552 ^@ NM_015404.3(WHRN):c.2418+3G>A http://identifiers.org/clinvar/228502 ^@ NM_022124.5(CDH23):c.752C>T (p.Pro251Leu) http://identifiers.org/clinvar/228002 ^@ NM_005422.2(TECTA):c.5808C>T (p.Leu1936=) http://identifiers.org/clinvar/229102 ^@ NM_173591.3(OTOGL):c.1555G>A (p.Glu519Lys) http://identifiers.org/clinvar/228902 ^@ NM_000257.3(MYH7):c.2480G>T (p.Trp827Leu) http://identifiers.org/clinvar/228602 ^@ NM_018139.2(DNAAF2):c.1463G>A (p.Gly488Glu) http://identifiers.org/clinvar/228252 ^@ NM_031427.3(DNAL1):c.224_230delTATCTTT (p.Leu75Terfs) http://identifiers.org/clinvar/228402 ^@ NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) http://identifiers.org/clinvar/228952 ^@ NM_016239.3(MYO15A):c.4354G>A (p.Ala1452Thr) http://identifiers.org/clinvar/227521 ^@ NM_144612.6(LOXHD1):c.3855C>T (p.Asp1285=) http://identifiers.org/clinvar/228752 ^@ NM_020433.4(JPH2):c.1655C>T (p.Pro552Leu) http://identifiers.org/clinvar/228052 ^@ NM_144991.2(TSPEAR):c.337G>A (p.Glu113Lys) http://identifiers.org/clinvar/228452 ^@ NM_001692.3(ATP6V1B1):c.941G>A (p.Arg314His) http://identifiers.org/clinvar/229002 ^@ NM_000260.3(MYO7A):c.2308G>A (p.Ala770Thr) http://identifiers.org/clinvar/234910 ^@ NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) http://identifiers.org/clinvar/230243 ^@ NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) http://identifiers.org/clinvar/230443 ^@ NM_000143.3(FH):c.316delG (p.Val106Terfs) http://identifiers.org/clinvar/230143 ^@ NM_001128425.1(MUTYH):c.608G>A (p.Arg203His) http://identifiers.org/clinvar/230893 ^@ NM_001128425.1(MUTYH):c.17C>G (p.Ser6Cys) http://identifiers.org/clinvar/231243 ^@ NM_000465.3(BARD1):c.1945_1946delGAinsTT (p.Glu649Leu) http://identifiers.org/clinvar/233835 ^@ NM_000465.3(BARD1):c.656A>G (p.Asn219Ser) http://identifiers.org/clinvar/231793 ^@ NM_000465.3(BARD1):c.296G>A (p.Arg99Lys) http://identifiers.org/clinvar/230793 ^@ NM_000465.3(BARD1):c.215+5_215+8delGTAA http://identifiers.org/clinvar/230593 ^@ NM_000465.3(BARD1):c.93C>T (p.Arg31=) http://identifiers.org/clinvar/230543 ^@ NM_000251.2(MSH2):c.617C>G (p.Thr206Ser) http://identifiers.org/clinvar/233683 ^@ NM_000251.2(MSH2):c.834A>G (p.Glu278=) http://identifiers.org/clinvar/233734 ^@ NM_000251.2(MSH2):c.955G>A (p.Asp319Asn) http://identifiers.org/clinvar/233183 ^@ NM_000251.2(MSH2):c.2011A>G (p.Asn671Asp) http://identifiers.org/clinvar/233633 ^@ NM_000251.2(MSH2):c.2415C>T (p.Leu805=) http://identifiers.org/clinvar/231043 ^@ NM_000179.2(MSH6):c.2559G>A (p.Lys853=) http://identifiers.org/clinvar/231743 ^@ NM_000249.3(MLH1):c.478G>T (p.Ala160Ser) http://identifiers.org/clinvar/233283 ^@ NM_000038.5(APC):c.2002C>T (p.His668Tyr) http://identifiers.org/clinvar/264435 ^@ NM_000138.4(FBN1):c.1195C>G (p.Pro399Ala) http://identifiers.org/clinvar/264118 ^@ NM_002474.2(MYH11):c.3776C>T (p.Ala1259Val) http://identifiers.org/clinvar/264018 ^@ NM_001943.4(DSG2):c.2575A>G (p.Thr859Ala) http://identifiers.org/clinvar/264485 ^@ NM_006440.4(TXNRD2):c.529-5C>T http://identifiers.org/clinvar/264168 ^@ NM_001456.3(FLNA):c.1032C>A (p.Val344=) http://identifiers.org/clinvar/265454 ^@ NM_005529.6(HSPG2):c.7006+1G>A http://identifiers.org/clinvar/265149 ^@ NM_000143.3(FH):c.1205A>G (p.His402Arg) http://identifiers.org/clinvar/265304 ^@ NM_006516.2(SLC2A1):c.679+5G>T http://identifiers.org/clinvar/265253 ^@ NM_005595.4(NFIA):c.361C>T (p.Arg121Cys) http://identifiers.org/clinvar/265705 ^@ NM_000348.3(SRD5A2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/265404 ^@ NM_017780.3(CHD7):c.1714C>T (p.Gln572Ter) http://identifiers.org/clinvar/265605 ^@ NM_000368.4(TSC1):c.2593C>T (p.Gln865Ter) http://identifiers.org/clinvar/265655 ^@ NM_024757.4(EHMT1):c.2867+5G>A http://identifiers.org/clinvar/265554 ^@ NM_000051.3(ATM):c.3841delA (p.Ser1281Valfs) http://identifiers.org/clinvar/265354 ^@ NM_006086.3(TUBB3):c.1172G>T (p.Arg391Leu) http://identifiers.org/clinvar/265200 ^@ NM_000211.4(ITGB2):c.1602C>A (p.Cys534Ter) http://identifiers.org/clinvar/265504 ^@ NM_000444.5(PHEX):c.1363G>T (p.Glu455Ter) http://identifiers.org/clinvar/265794 ^@ NM_001711.5(BGN):c.5G>A (p.Trp2Ter) http://identifiers.org/clinvar/265944 ^@ NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala) http://identifiers.org/clinvar/265894 ^@ NM_000384.2(APOB):c.12460G>A (p.Glu4154Lys) http://identifiers.org/clinvar/265999 ^@ NM_000338.2(SLC12A1):c.1163delT (p.Phe388Serfs) http://identifiers.org/clinvar/266076 ^@ NM_138568.3(EXOC3L2):c.398dupC (p.Leu134Thrfs) http://identifiers.org/clinvar/266126 ^@ NM_001273.3(CHD4):c.3380G>A (p.Arg1127Gln) http://identifiers.org/clinvar/266626 ^@ NM_000059.3(BRCA2):c.1298dupA (p.Asn433Lysfs) http://identifiers.org/clinvar/267076 ^@ NM_000059.3(BRCA2):c.8362_8363delTG (p.Trp2788Valfs) http://identifiers.org/clinvar/266526 ^@ NM_007294.3(BRCA1):c.5148T>A (p.Tyr1716Ter) http://identifiers.org/clinvar/266476 ^@ NM_007294.3(BRCA1):c.4417delT (p.Ser1473Leufs) http://identifiers.org/clinvar/266426 ^@ NM_007294.3(BRCA1):c.3990_3993delCCAG (p.Ser1330Argfs) http://identifiers.org/clinvar/266376 ^@ NM_007294.3(BRCA1):c.3485_3491delATACTAG (p.Asp1162Valfs) http://identifiers.org/clinvar/266326 ^@ NM_007294.3(BRCA1):c.2981delG (p.Cys994Leufs) http://identifiers.org/clinvar/266276 ^@ NM_007294.3(BRCA1):c.2536G>T (p.Glu846Ter) http://identifiers.org/clinvar/266226 ^@ NM_007294.3(BRCA1):c.2149G>T (p.Glu717Ter) http://identifiers.org/clinvar/266176 ^@ NM_007294.3(BRCA1):c.1618G>T (p.Glu540Ter) http://identifiers.org/clinvar/266576 ^@ NM_007294.3(BRCA1):c.750_751delGA (p.Lys251Alafs) http://identifiers.org/clinvar/279598 ^@ NM_001282531.2(ADNP):c.2188C>T (p.Arg730Ter) http://identifiers.org/clinvar/290905 ^@ NM_000392.4(ABCC2):c.974C>G (p.Ser325Ter) http://identifiers.org/clinvar/290955 ^@ NM_138694.3(PKHD1):c.270A>G (p.Thr90=) http://identifiers.org/clinvar/291005 ^@ NM_000260.3(MYO7A):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/291055 ^@ NM_000036.2(AMPD1):c.561G>A (p.Ser187=) http://identifiers.org/clinvar/291105 ^@ NM_153240.4(NPHP3):c.233G>T (p.Gly78Val) http://identifiers.org/clinvar/291155 ^@ NM_001165927.1(MKS1):c.466C>T (p.Arg156Trp) http://identifiers.org/clinvar/291206 ^@ NM_012470.3(TNPO3):c.2431-6A>C http://identifiers.org/clinvar/291256 ^@ NM_001844.4(COL2A1):c.2490_2491delCGinsAA (p.Gly831Arg) http://identifiers.org/clinvar/291421 ^@ NM_001918.3(DBT):c.*3461A>G http://identifiers.org/clinvar/291471 ^@ NM_015074.3(KIF1B):c.608+7T>C http://identifiers.org/clinvar/291521 ^@ NM_015074.3(KIF1B):c.1222T>C (p.Leu408=) http://identifiers.org/clinvar/291571 ^@ NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=) http://identifiers.org/clinvar/292973 ^@ NM_003126.2(SPTA1):c.5378G>A (p.Arg1793Gln) http://identifiers.org/clinvar/292823 ^@ NM_005572.3(LMNA):c.-226C>T http://identifiers.org/clinvar/293423 ^@ NM_004431.4(EPHA2):c.1843C>T (p.Arg615Trp) http://identifiers.org/clinvar/293323 ^@ NM_003001.3(SDHC):c.*247C>G http://identifiers.org/clinvar/293023 ^@ NM_003126.2(SPTA1):c.2015T>C (p.Leu672Ser) http://identifiers.org/clinvar/293073 ^@ NM_002241.4(KCNJ10):c.*3180G>C http://identifiers.org/clinvar/293173 ^@ NM_000702.3(ATP1A2):c.*1355C>T http://identifiers.org/clinvar/293523 ^@ NM_006996.2(SLC19A2):c.845T>C (p.Leu282Pro) http://identifiers.org/clinvar/293223 ^@ NM_002857.3(PEX19):c.*172G>C http://identifiers.org/clinvar/293573 ^@ NM_000130.4(F5):c.6459T>C (p.Tyr2153=) http://identifiers.org/clinvar/292873 ^@ NM_001012331.1(NTRK1):c.287+12G>A http://identifiers.org/clinvar/292923 ^@ NM_003126.2(SPTA1):c.*167A>G http://identifiers.org/clinvar/293123 ^@ NM_000702.3(ATP1A2):c.-70G>A http://identifiers.org/clinvar/293273 ^@ NM_004550.4(NDUFS2):c.337A>G (p.Ile113Val) http://identifiers.org/clinvar/294312 ^@ NM_031935.2(HMCN1):c.16773G>A (p.Val5591=) http://identifiers.org/clinvar/293373 ^@ NM_006182.2(DDR2):c.476T>C (p.Ile159Thr) http://identifiers.org/clinvar/294412 ^@ NM_024529.4(CDC73):c.659T>C (p.Val220Ala) http://identifiers.org/clinvar/293473 ^@ NM_005149.2(TBX19):c.603+13G>T http://identifiers.org/clinvar/294462 ^@ NM_024529.4(CDC73):c.*3419T>A http://identifiers.org/clinvar/294562 ^@ NM_030787.3(CFHR5):c.*802T>G http://identifiers.org/clinvar/294612 ^@ NM_018136.4(ASPM):c.7372A>G (p.Arg2458Gly) http://identifiers.org/clinvar/293623 ^@ NM_000130.4(F5):c.2042A>G (p.Asp681Gly) http://identifiers.org/clinvar/293673 ^@ NM_152281.2(GORAB):c.*883G>A http://identifiers.org/clinvar/294862 ^@ NM_001005337.2(PKP1):c.*1229C>T http://identifiers.org/clinvar/344204 ^@ NM_031955.5(SPATA16):c.1526C>T (p.Ala509Val) http://identifiers.org/clinvar/344254 ^@ NM_181426.1(CCDC39):c.*325C>A http://identifiers.org/clinvar/344304 ^@ NM_020166.4(MCCC1):c.1894C>T (p.Pro632Ser) http://identifiers.org/clinvar/343504 ^@ NM_024334.2(TMEM43):c.279C>T (p.Gly93=) http://identifiers.org/clinvar/343554 ^@ NM_004628.4(XPC):c.*452G>A http://identifiers.org/clinvar/336018 ^@ NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) http://identifiers.org/clinvar/344604 ^@ NM_000461.4(THRB):c.*1866T>C http://identifiers.org/clinvar/337264 ^@ NM_000821.6(GGCX):c.1492C>T (p.Arg498Cys) http://identifiers.org/clinvar/337364 ^@ NM_022912.2(REEP1):c.*2076_*2077delAG http://identifiers.org/clinvar/345843 ^@ NM_000094.3(COL7A1):c.4927G>A (p.Gly1643Ser) http://identifiers.org/clinvar/346193 ^@ NM_052859.3(RFT1):c.696+5_696+8delGTAA http://identifiers.org/clinvar/346243 ^@ NM_003392.4(WNT5A):c.*1791G>T http://identifiers.org/clinvar/346293 ^@ NM_001457.3(FLNB):c.-95C>G http://identifiers.org/clinvar/337664 ^@ NM_001298.2(CNGA3):c.1679C>T (p.Ser560Leu) http://identifiers.org/clinvar/346443 ^@ NM_198859.3(PRICKLE2):c.*2288C>T http://identifiers.org/clinvar/346743 ^@ NM_002942.4(ROBO2):c.*1950T>G http://identifiers.org/clinvar/345643 ^@ NM_015175.2(NBEAL2):c.2532G>A (p.Arg844=) http://identifiers.org/clinvar/345893 ^@ NM_002222.5(ITPR1):c.7977C>A (p.Gly2659=) http://identifiers.org/clinvar/345793 ^@ NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) http://identifiers.org/clinvar/345993 ^@ NM_002292.3(LAMB2):c.3036C>T (p.His1012=) http://identifiers.org/clinvar/343104 ^@ NM_002880.3(RAF1):c.21T>C (p.Ala7=) http://identifiers.org/clinvar/346393 ^@ NM_001457.3(FLNB):c.*1427G>T http://identifiers.org/clinvar/343404 ^@ NM_003571.3(BFSP2):c.369C>T (p.His123=) http://identifiers.org/clinvar/343204 ^@ NM_014049.4(ACAD9):c.1496A>G (p.Asn499Ser) http://identifiers.org/clinvar/343254 ^@ NM_052985.3(IFT122):c.2586C>T (p.Cys862=) http://identifiers.org/clinvar/343454 ^@ NM_000532.4(PCCB):c.-35G>A http://identifiers.org/clinvar/343654 ^@ NM_000935.2(PLOD2):c.-81C>T http://identifiers.org/clinvar/343704 ^@ NM_032383.4(HPS3):c.1208C>T (p.Ala403Val) http://identifiers.org/clinvar/343754 ^@ NM_000096.3(CP):c.2565C>T (p.Leu855=) http://identifiers.org/clinvar/348332 ^@ NM_207352.3(CYP4V2):c.*1051_*1056dupCACACA http://identifiers.org/clinvar/343854 ^@ NM_005677.3(COLQ):c.300C>T (p.Ser100=) http://identifiers.org/clinvar/348382 ^@ NM_000128.3(F11):c.*265A>G http://identifiers.org/clinvar/343904 ^@ NM_000060.4(BTD):c.-5G>T http://identifiers.org/clinvar/348432 ^@ NM_133330.2(NSD2):c.1330A>G (p.Thr444Ala) http://identifiers.org/clinvar/354170 ^@ NM_003719.3(PDE8B):c.2235G>A (p.Lys745=) http://identifiers.org/clinvar/353920 ^@ NM_001104631.1(PDE4D):c.*4659T>G http://identifiers.org/clinvar/362298 ^@ NM_006765.3(TUSC3):c.-191C>T http://identifiers.org/clinvar/354070 ^@ NM_017755.5(NSUN2):c.-193G>C http://identifiers.org/clinvar/362348 ^@ NM_006765.3(TUSC3):c.*2456C>A http://identifiers.org/clinvar/354320 ^@ NM_000046.3(ARSB):c.-265G>A http://identifiers.org/clinvar/354470 ^@ NM_004385.4(VCAN):c.*31A>G http://identifiers.org/clinvar/358699 ^@ NM_001127500.2(MET):c.*216C>A http://identifiers.org/clinvar/358749 ^@ NM_000492.3(CFTR):c.*1294G>A http://identifiers.org/clinvar/354270 ^@ NM_000046.3(ARSB):c.*2543_*2545dupTTT http://identifiers.org/clinvar/354570 ^@ NM_002397.4(MEF2C):c.*2413T>C http://identifiers.org/clinvar/354520 ^@ NM_002890.2(RASA1):c.1777-15_1777-14insA http://identifiers.org/clinvar/354670 ^@ NM_005068.2(SIM1):c.*348A>T http://identifiers.org/clinvar/359199 ^@ NM_014141.5(CNTNAP2):c.*175dupA http://identifiers.org/clinvar/354870 ^@ NM_007214.4(SEC63):c.*1433T>C http://identifiers.org/clinvar/354920 ^@ NM_007214.4(SEC63):c.125-13delT http://identifiers.org/clinvar/355121 ^@ NM_001010892.2(RSPH4A):c.1514T>C (p.Phe505Ser) http://identifiers.org/clinvar/355020 ^@ NM_004752.3(GCM2):c.156C>T (p.Ser52=) http://identifiers.org/clinvar/363587 ^@ NM_004820.4(CYP7B1):c.261A>G (p.Gly87=) http://identifiers.org/clinvar/359749 ^@ NM_032581.3(FAM126A):c.*1318A>G http://identifiers.org/clinvar/363787 ^@ NM_000318.2(PEX2):c.*1811C>T http://identifiers.org/clinvar/364037 ^@ NM_001001557.3(GDF6):c.*172A>G http://identifiers.org/clinvar/361088 ^@ NM_017890.4(VPS13B):c.10175C>A (p.Thr3392Asn) http://identifiers.org/clinvar/364237 ^@ NM_014425.4(INVS):c.*73T>A http://identifiers.org/clinvar/364287 ^@ NM_001701.3(BAAT):c.-209C>T http://identifiers.org/clinvar/355860 ^@ NM_033071.3(SYNE1):c.15897C>A (p.His5299Gln) http://identifiers.org/clinvar/355910 ^@ NM_033071.3(SYNE1):c.7734-19_7734-13dupTTTTTTT http://identifiers.org/clinvar/356010 ^@ NM_004562.2(PRKN):c.*301G>C http://identifiers.org/clinvar/356060 ^@ NM_198586.2(NHLRC1):c.*720T>C http://identifiers.org/clinvar/356160 ^@ NM_001080.3(ALDH5A1):c.*1221C>T http://identifiers.org/clinvar/360688 ^@ NM_000941.2(POR):c.-5G>A http://identifiers.org/clinvar/356260 ^@ NM_000063.5(C2):c.2201G>T (p.Arg734Leu) http://identifiers.org/clinvar/356460 ^@ NM_003322.5(TULP1):c.*318T>G http://identifiers.org/clinvar/356810 ^@ NM_000287.3(PEX6):c.-71C>G http://identifiers.org/clinvar/361388 ^@ NM_178857.5(RP1L1):c.960C>T (p.Ser320=) http://identifiers.org/clinvar/356660 ^@ NM_005943.5(MOCS1):c.645+9G>C http://identifiers.org/clinvar/356710 ^@ NM_002098.5(GUCA1B):c.*832G>A http://identifiers.org/clinvar/361598 ^@ NM_014112.4(TRPS1):c.*486A>G http://identifiers.org/clinvar/356860 ^@ NM_014780.4(CUL7):c.-168C>T http://identifiers.org/clinvar/356910 ^@ NM_006502.2(POLH):c.1483G>A (p.Glu495Lys) http://identifiers.org/clinvar/357110 ^@ NM_001024630.3(RUNX2):c.*1278T>C http://identifiers.org/clinvar/357010 ^@ NM_006502.2(POLH):c.*5199A>G http://identifiers.org/clinvar/311077 ^@ NM_001845.5(COL4A1):c.501C>T (p.Pro167=) http://identifiers.org/clinvar/367237 ^@ NM_004817.3(TJP2):c.*183G>A http://identifiers.org/clinvar/311277 ^@ NM_000504.3(F10):c.633C>G (p.Thr211=) http://identifiers.org/clinvar/311327 ^@ NM_021954.3(GJA3):c.*243G>A http://identifiers.org/clinvar/311627 ^@ NM_018451.4(CENPJ):c.671C>T (p.Pro224Leu) http://identifiers.org/clinvar/367566 ^@ NM_000507.3(FBP1):c.-219C>T http://identifiers.org/clinvar/366987 ^@ NM_001042413.1(GLIS3):c.1044C>T (p.Tyr348=) http://identifiers.org/clinvar/367037 ^@ NM_004170.5(SLC1A1):c.123C>T (p.His41=) http://identifiers.org/clinvar/311977 ^@ NM_207361.5(FREM2):c.4319C>A (p.Thr1440Lys) http://identifiers.org/clinvar/312027 ^@ NM_207361.5(FREM2):c.8226C>T (p.Ala2742=) http://identifiers.org/clinvar/367287 ^@ NM_017662.4(TRPM6):c.*527G>A http://identifiers.org/clinvar/364137 ^@ NM_004612.3(TGFBR1):c.*2101_*2102insGT http://identifiers.org/clinvar/364187 ^@ NM_004612.3(TGFBR1):c.*4499G>A http://identifiers.org/clinvar/367416 ^@ NM_033305.2(VPS13A):c.7806+6A>G http://identifiers.org/clinvar/312327 ^@ NM_024570.3(RNASEH2B):c.-112C>T http://identifiers.org/clinvar/367516 ^@ NM_004560.3(ROR2):c.471G>A (p.Thr157=) http://identifiers.org/clinvar/367616 ^@ NM_000264.3(PTCH1):c.*3337T>C http://identifiers.org/clinvar/313016 ^@ NM_025152.2(NUBPL):c.-25A>G http://identifiers.org/clinvar/299090 ^@ NM_001609.3(ACADSB):c.1228+20_1228+21delTT http://identifiers.org/clinvar/299340 ^@ NM_001081.3(CUBN):c.*329C>T http://identifiers.org/clinvar/299390 ^@ NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) http://identifiers.org/clinvar/313566 ^@ NM_182914.2(SYNE2):c.12108+3A>G http://identifiers.org/clinvar/313666 ^@ NM_182914.2(SYNE2):c.20497G>A (p.Glu6833Lys) http://identifiers.org/clinvar/314016 ^@ NM_031427.3(DNAL1):c.195C>T (p.Asn65=) http://identifiers.org/clinvar/299190 ^@ NM_000375.2(UROS):c.475+14T>A http://identifiers.org/clinvar/314066 ^@ NM_031427.3(DNAL1):c.*2736A>G http://identifiers.org/clinvar/314166 ^@ NM_005589.3(ALDH6A1):c.*142C>T http://identifiers.org/clinvar/300140 ^@ NM_000242.2(MBL2):c.*675C>T http://identifiers.org/clinvar/300190 ^@ NM_033056.3(PCDH15):c.2220+9A>G http://identifiers.org/clinvar/299840 ^@ NM_021252.4(RAB18):c.*1089C>A http://identifiers.org/clinvar/300440 ^@ NM_022124.5(CDH23):c.5037C>T (p.Ile1679=) http://identifiers.org/clinvar/299940 ^@ NM_020975.4(RET):c.*1646T>G http://identifiers.org/clinvar/300240 ^@ NM_000417.2(IL2RA):c.*676C>T http://identifiers.org/clinvar/311127 ^@ NM_001846.3(COL4A2):c.1451G>C (p.Arg484Thr) http://identifiers.org/clinvar/311227 ^@ NM_000131.4(F7):c.1003T>C (p.Phe335Leu) http://identifiers.org/clinvar/311377 ^@ NM_006783.4(GJB6):c.*301G>C http://identifiers.org/clinvar/311477 ^@ NM_000231.2(SGCG):c.-118G>A http://identifiers.org/clinvar/311727 ^@ NM_004795.3(KL):c.*1509T>G http://identifiers.org/clinvar/330188 ^@ NM_206828.3(NLRP7):c.-39-3C>T http://identifiers.org/clinvar/330288 ^@ NM_000064.3(C3):c.4030-4C>T http://identifiers.org/clinvar/311927 ^@ NM_207361.5(FREM2):c.-260A>G http://identifiers.org/clinvar/330388 ^@ NM_000208.3(INSR):c.*2405A>T http://identifiers.org/clinvar/318857 ^@ NM_006662.2(SRCAP):c.492+11C>T http://identifiers.org/clinvar/312077 ^@ NM_207361.5(FREM2):c.*3094T>C http://identifiers.org/clinvar/337714 ^@ NM_000214.2(JAG1):c.*1637A>G http://identifiers.org/clinvar/312277 ^@ NM_003850.2(SUCLA2):c.-49C>G http://identifiers.org/clinvar/337864 ^@ NM_000361.2(THBD):c.*793A>G http://identifiers.org/clinvar/319207 ^@ NM_032444.2(SLX4):c.-616C>T http://identifiers.org/clinvar/338014 ^@ NM_006899.4(IDH3B):c.1061A>G (p.Lys354Arg) http://identifiers.org/clinvar/338114 ^@ NM_015338.5(ASXL1):c.3776C>T (p.Pro1259Leu) http://identifiers.org/clinvar/338164 ^@ NM_006892.3(DNMT3B):c.1219G>A (p.Gly407Ser) http://identifiers.org/clinvar/311177 ^@ NM_001846.3(COL4A2):c.4428G>A (p.Pro1476=) http://identifiers.org/clinvar/319808 ^@ NM_001043.3(SLC6A2):c.1489+9G>A http://identifiers.org/clinvar/338464 ^@ NM_000457.4(HNF4A):c.*1832G>A http://identifiers.org/clinvar/338514 ^@ NM_000308.3(CTSA):c.-292T>C http://identifiers.org/clinvar/311427 ^@ NM_002010.2(FGF9):c.*56C>T http://identifiers.org/clinvar/320058 ^@ NM_001297.4(CNGB1):c.3560G>A (p.Arg1187Gln) http://identifiers.org/clinvar/338714 ^@ NM_006420.2(ARFGEF2):c.*368A>G http://identifiers.org/clinvar/313216 ^@ NM_020937.3(FANCM):c.4222+7T>G http://identifiers.org/clinvar/313266 ^@ NM_002408.3(MGAT2):c.*722T>C http://identifiers.org/clinvar/313316 ^@ NM_015915.4(ATL1):c.*653T>C http://identifiers.org/clinvar/311827 ^@ NM_001127217.2(SMAD9):c.*3423T>C http://identifiers.org/clinvar/313416 ^@ NM_172337.2(OTX2):c.*219G>A http://identifiers.org/clinvar/313516 ^@ NM_182914.2(SYNE2):c.5637+12A>G http://identifiers.org/clinvar/313716 ^@ NM_000347.5(SPTB):c.5277C>T (p.Asp1759=) http://identifiers.org/clinvar/312177 ^@ NM_014252.3(SLC25A15):c.278G>A (p.Arg93Gln) http://identifiers.org/clinvar/313816 ^@ NM_002382.4(MAX):c.*44G>A http://identifiers.org/clinvar/312227 ^@ NM_003701.3(TNFSF11):c.45G>A (p.Ser15=) http://identifiers.org/clinvar/312377 ^@ NM_000053.3(ATP7B):c.4185G>C (p.Leu1395=) http://identifiers.org/clinvar/321551 ^@ NM_000833.4(GRIN2A):c.*3396T>G http://identifiers.org/clinvar/314116 ^@ NM_031427.3(DNAL1):c.*6162_*6163dupTG http://identifiers.org/clinvar/321651 ^@ NM_002472.2(MYH8):c.846G>A (p.Ala282=) http://identifiers.org/clinvar/326439 ^@ NM_177986.4(DSG4):c.1725A>G (p.Ala575=) http://identifiers.org/clinvar/326489 ^@ NM_001943.4(DSG2):c.3044T>C (p.Met1015Thr) http://identifiers.org/clinvar/326739 ^@ NM_015559.2(SETBP1):c.1490C>T (p.Pro497Leu) http://identifiers.org/clinvar/326839 ^@ NM_144612.6(LOXHD1):c.4690C>T (p.Leu1564Phe) http://identifiers.org/clinvar/368016 ^@ NM_000133.3(F9):c.*1110delA http://identifiers.org/clinvar/368116 ^@ NM_000132.3(F8):c.6871A>G (p.Thr2291Ala) http://identifiers.org/clinvar/327389 ^@ NM_000140.3(FECH):c.*1915G>T http://identifiers.org/clinvar/327439 ^@ NM_005603.4(ATP8B1):c.*1940A>G http://identifiers.org/clinvar/330138 ^@ NM_024075.4(TSEN34):c.*497T= http://identifiers.org/clinvar/330338 ^@ NM_000064.3(C3):c.600-14C>T http://identifiers.org/clinvar/330488 ^@ NM_020533.2(MCOLN1):c.405+6G>C http://identifiers.org/clinvar/337964 ^@ NM_014588.5(VSX1):c.452A>G (p.Asn151Ser) http://identifiers.org/clinvar/339754 ^@ NM_000219.5(KCNE1):c.*1043T>C http://identifiers.org/clinvar/330538 ^@ NM_006702.4(PNPLA6):c.3798C>T (p.Asp1266=) http://identifiers.org/clinvar/337764 ^@ NM_000214.2(JAG1):c.-73G>C http://identifiers.org/clinvar/338214 ^@ NM_003098.2(SNTA1):c.1181G>A (p.Arg394His) http://identifiers.org/clinvar/338314 ^@ NM_000557.4(GDF5):c.*193G>T http://identifiers.org/clinvar/338364 ^@ NM_153638.3(PANK2):c.1413-14_1413-13insCCCCCT http://identifiers.org/clinvar/338564 ^@ NM_004994.2(MMP9):c.*189C>T http://identifiers.org/clinvar/338815 ^@ NM_000782.4(CYP24A1):c.1125G>A (p.Pro375=) http://identifiers.org/clinvar/385867 ^@ NM_001458.4(FLNC):c.3847A>G (p.Thr1283Ala) http://identifiers.org/clinvar/390445 ^@ NM_017617.4(NOTCH1):c.4930C>T (p.Leu1644=) http://identifiers.org/clinvar/385917 ^@ NM_007327.3(GRIN1):c.1044C>T (p.Phe348=) http://identifiers.org/clinvar/381272 ^@ NM_001540.3(HSPB1):c.501C>T (p.Ala167=) http://identifiers.org/clinvar/387256 ^@ NM_005609.3(PYGM):c.773-18C>T http://identifiers.org/clinvar/388506 ^@ NM_000314.6(PTEN):c.492+14T>A http://identifiers.org/clinvar/386956 ^@ NM_024698.5(SLC25A22):c.-168T>C http://identifiers.org/clinvar/381823 ^@ NM_032273.3(TMEM126A):c.234A>G (p.Thr78=) http://identifiers.org/clinvar/383415 ^@ NM_000051.3(ATM):c.1052A>T (p.Asp351Val) http://identifiers.org/clinvar/379880 ^@ NM_017890.4(VPS13B):c.292-1G>A http://identifiers.org/clinvar/385817 ^@ NM_001278503.1(STT3A):c.-34T>C http://identifiers.org/clinvar/381973 ^@ NM_000218.2(KCNQ1):c.1806G>A (p.Leu602=) http://identifiers.org/clinvar/385667 ^@ NM_017547.3(FOXRED1):c.1404C>T (p.Pro468=) http://identifiers.org/clinvar/381022 ^@ NM_000093.4(COL5A1):c.3744+19C>T http://identifiers.org/clinvar/379779 ^@ NM_000017.3(ACADS):c.1153G>T (p.Ala385Ser) http://identifiers.org/clinvar/388056 ^@ NM_020822.2(KCNT1):c.1122G>T (p.Val374=) http://identifiers.org/clinvar/385267 ^@ NM_006231.3(POLE):c.6201T>C (p.Thr2067=) http://identifiers.org/clinvar/385367 ^@ NM_022489.3(INF2):c.-10G>C http://identifiers.org/clinvar/390095 ^@ NM_003482.3(KMT2D):c.2868G>C (p.Glu956Asp) http://identifiers.org/clinvar/393134 ^@ NM_000719.6(CACNA1C):c.1917C>G (p.Asn639Lys) http://identifiers.org/clinvar/392184 ^@ NM_001081.3(CUBN):c.6125-2A>G http://identifiers.org/clinvar/386906 ^@ NM_000059.3(BRCA2):c.-10G>C http://identifiers.org/clinvar/389645 ^@ NM_020987.4(ANK3):c.10679G>A (p.Arg3560Gln) http://identifiers.org/clinvar/387806 ^@ NM_000070.2(CAPN3):c.945+14C>T http://identifiers.org/clinvar/381322 ^@ NM_032578.3(MYPN):c.1483+11T>C http://identifiers.org/clinvar/384967 ^@ NM_000059.3(BRCA2):c.5586G>A (p.Val1862=) http://identifiers.org/clinvar/381772 ^@ NM_000059.3(BRCA2):c.*3A>G http://identifiers.org/clinvar/384216 ^@ NM_024537.3(CARS2):c.564G>A (p.Thr188=) http://identifiers.org/clinvar/390495 ^@ NM_001018005.1(TPM1):c.375-17C>T http://identifiers.org/clinvar/389995 ^@ NM_024740.2(ALG9):c.-11C>T http://identifiers.org/clinvar/385967 ^@ NM_001376.4(DYNC1H1):c.9903G>A (p.Lys3301=) http://identifiers.org/clinvar/387956 ^@ NM_005343.3(HRAS):c.291-8C>T http://identifiers.org/clinvar/381122 ^@ NM_005249.4(FOXG1):c.459G>T (p.Gly153=) http://identifiers.org/clinvar/389745 ^@ NM_024675.3(PALB2):c.429G>T (p.Leu143=) http://identifiers.org/clinvar/389845 ^@ NM_000814.5(GABRB3):c.81T>C (p.Ser27=) http://identifiers.org/clinvar/387206 ^@ NM_198525.2(KIF7):c.2958C>T (p.Ser986=) http://identifiers.org/clinvar/392434 ^@ NM_007347.4(AP4E1):c.133G>A (p.Ala45Thr) http://identifiers.org/clinvar/392284 ^@ NM_006231.3(POLE):c.3651C>T (p.Leu1217=) http://identifiers.org/clinvar/393284 ^@ NM_002470.3(MYH3):c.1141G>T (p.Val381Leu) http://identifiers.org/clinvar/48223 ^@ NM_194248.2(OTOF):c.3734-10A>C http://identifiers.org/clinvar/48273 ^@ NM_194248.2(OTOF):c.710+10C>T http://identifiers.org/clinvar/153 ^@ NM_000274.3(OAT):c.539G>C (p.Arg180Thr) http://identifiers.org/clinvar/167 ^@ NM_000274.3(OAT):c.550G>A (p.Ala184Thr) http://identifiers.org/clinvar/240 ^@ NM_000398.6(CYB5R3):c.655C>T (p.Arg219Ter) http://identifiers.org/clinvar/369 ^@ NM_000267.3(NF1):c.7126+3A>C http://identifiers.org/clinvar/378 ^@ NM_000308.3(CTSA):c.247T>C (p.Trp83Arg) http://identifiers.org/clinvar/415 ^@ RNASET2, 1-BP DEL, 332+1G http://identifiers.org/clinvar/574 ^@ NM_000893.3(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG http://identifiers.org/clinvar/624 ^@ NM_000277.1(PAH):c.997C>T (p.Leu333Phe) http://identifiers.org/clinvar/688 ^@ FUCA1, 1-BP DEL, EX2 http://identifiers.org/clinvar/1111 ^@ NM_025137.3(SPG11):c.118C>T (p.Gln40Ter) http://identifiers.org/clinvar/1162 ^@ NM_014846.3(WASHC5):c.1857G>C (p.Leu619Phe) http://identifiers.org/clinvar/1258 ^@ NM_001146289.1(P3H1):c.1102C>T (p.Arg368Ter) http://identifiers.org/clinvar/1302 ^@ DFNB59, 1-BP DEL, 988G http://identifiers.org/clinvar/1348 ^@ NM_138959.2(VANGL1):c.983T>C (p.Met328Thr) http://identifiers.org/clinvar/1394 ^@ NM_017777.3(MKS1):c.1112_1114delTCT (p.Phe371del) http://identifiers.org/clinvar/1439 ^@ NM_015697.7(COQ2):c.683A>G (p.Asn228Ser) http://identifiers.org/clinvar/1484 ^@ NM_000190.3(HMBS):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/1575 ^@ NM_001171993.1(HPD):c.483C>G (p.Tyr161Ter) http://identifiers.org/clinvar/1620 ^@ NM_001608.3(ACADL):c.997A>C (p.Lys333Gln) http://identifiers.org/clinvar/1714 ^@ ERCC8, 279-BP DEL, 81-BP DEL http://identifiers.org/clinvar/1761 ^@ NM_000251.2(MSH2):c.269_290dup22 (p.Tyr98Argfs) http://identifiers.org/clinvar/1810 ^@ NM_152594.2(SPRED1):c.70C>T (p.Arg24Ter) http://identifiers.org/clinvar/1856 ^@ NM_152783.4(D2HGDH):c.1315A>G (p.Asn439Asp) http://identifiers.org/clinvar/1900 ^@ NM_000060.4(BTD):c.1330G>C (p.Asp444His) http://identifiers.org/clinvar/1946 ^@ NM_030957.3(ADAMTS10):c.810+1G>A http://identifiers.org/clinvar/1991 ^@ NM_182896.2(ARL13B):c.236G>A (p.Arg79Gln) http://identifiers.org/clinvar/2354 ^@ NM_206933.2(USH2A):c.779T>G (p.Leu260Ter) http://identifiers.org/clinvar/3317 ^@ NM_000383.3(AIRE):c.239T>G (p.Val80Gly) http://identifiers.org/clinvar/10161 ^@ F8, 23-BP DEL, FS http://identifiers.org/clinvar/10206 ^@ NM_000132.3(F8):c.1174T>C (p.Ser392Pro) http://identifiers.org/clinvar/10251 ^@ NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) http://identifiers.org/clinvar/10297 ^@ NM_000132.3(F8):c.5900G>A (p.Gly1967Asp) http://identifiers.org/clinvar/10341 ^@ F8, EX14-21DEL http://identifiers.org/clinvar/10391 ^@ NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) http://identifiers.org/clinvar/10439 ^@ NM_001097642.2(GJB1):c.37G>T (p.Val13Leu) http://identifiers.org/clinvar/11156 ^@ CHM, L1 INS http://identifiers.org/clinvar/11200 ^@ NM_139058.2(ARX):c.998C>A (p.Thr333Asn) http://identifiers.org/clinvar/11246 ^@ NM_004006.2(DMD):c.1438G>T (p.Gly480Ter) http://identifiers.org/clinvar/11291 ^@ DMD, EX45-47DEL http://identifiers.org/clinvar/11336 ^@ NM_001109878.1(TBX22):c.790A>T (p.Asn264Tyr) http://identifiers.org/clinvar/11382 ^@ BTK, IVS16DS, G-T, +1 http://identifiers.org/clinvar/11452 ^@ NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter) http://identifiers.org/clinvar/12305 ^@ NTRK1, IVS4, G-C, -1 AND ARG85SER http://identifiers.org/clinvar/12356 ^@ NM_000546.5(TP53):c.743G>A (p.Arg248Gln) http://identifiers.org/clinvar/12407 ^@ NM_000548.4(TSC2):c.1322G>A (p.Trp441Ter) http://identifiers.org/clinvar/12459 ^@ NM_001018005.1(TPM1):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/12509 ^@ NM_003242.5(TGFBR2):c.1063G>C (p.Ala355Pro) http://identifiers.org/clinvar/12559 ^@ NM_001128177.1(THRB):c.1313G>A (p.Arg438His) http://identifiers.org/clinvar/12610 ^@ NM_176795.4(HRAS):c.173C>T (p.Thr58Ile) http://identifiers.org/clinvar/12660 ^@ TTN:c.106668delA (p.Lys35556Argfs) http://identifiers.org/clinvar/12711 ^@ NM_004614.4(TK2):c.159C>G (p.Ile53Met) http://identifiers.org/clinvar/12762 ^@ NM_003172.3(SURF1):c.751C>T (p.Gln251Ter) http://identifiers.org/clinvar/12812 ^@ KITLG, -326A-G, 5-PRIME UTR http://identifiers.org/clinvar/12862 ^@ NM_003126.2(SPTA1):c.2806-13T>G http://identifiers.org/clinvar/12913 ^@ NM_152296.4(ATP1A3):c.2338T>C (p.Phe780Leu) http://identifiers.org/clinvar/12963 ^@ NM_001035.2(RYR2):c.14579C>G (p.Ala4860Gly) http://identifiers.org/clinvar/13014 ^@ NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) http://identifiers.org/clinvar/13116 ^@ NM_000329.2(RPE65):c.1355T>G (p.Val452Gly) http://identifiers.org/clinvar/13167 ^@ NM_000322.4(PRPH2):c.515G>A (p.Arg172Gln) http://identifiers.org/clinvar/13218 ^@ NM_000055.2(BCHE):c.812C>T (p.Thr271Met) http://identifiers.org/clinvar/13269 ^@ NM_000141.4(FGFR2):c.1031C>G (p.Ala344Gly) http://identifiers.org/clinvar/13320 ^@ NM_000313.3(PROS1):c.2031A>T (p.Ter677Tyr) http://identifiers.org/clinvar/13370 ^@ NM_001042465.2(PSAP):c.1153T>G (p.Cys385Gly) http://identifiers.org/clinvar/13424 ^@ NM_000371.3(TTR):c.391C>A (p.Leu131Met) http://identifiers.org/clinvar/13476 ^@ NM_000219.5(KCNE1):c.20C>T (p.Thr7Ile) http://identifiers.org/clinvar/13526 ^@ NM_002644.3(PIGR):c.1739C>T (p.Ala580Val) http://identifiers.org/clinvar/36649 ^@ NM_033118.3(MYLK2):c.1082+11G>A http://identifiers.org/clinvar/36702 ^@ NM_006261.4(PROP1):c.46C>T (p.Arg16Ter) http://identifiers.org/clinvar/36754 ^@ NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) http://identifiers.org/clinvar/36805 ^@ NM_000545.6(HNF1A):c.1539C>T (p.Thr513=) http://identifiers.org/clinvar/36855 ^@ NM_000458.3(HNF1B):c.951C>G (p.Ala317=) http://identifiers.org/clinvar/36906 ^@ NM_000551.3(VHL):c.549G>A (p.Ser183=) http://identifiers.org/clinvar/36982 ^@ NM_001277115.1(DNAH11):c.7772C>T (p.Pro2591Leu) http://identifiers.org/clinvar/37081 ^@ NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) http://identifiers.org/clinvar/37167 ^@ SLCO2A1, 1-BP INS, 830T http://identifiers.org/clinvar/37295 ^@ NM_014956.4(CEP164):c.32A>C (p.Gln11Pro) http://identifiers.org/clinvar/37380 ^@ NM_005732.3(RAD50):c.980G>A (p.Arg327His) http://identifiers.org/clinvar/37431 ^@ NM_007294.3(BRCA1):c.1854delG (p.Arg618Serfs) http://identifiers.org/clinvar/37483 ^@ NM_007294.3(BRCA1):c.2706_2707dupAT (p.Cys903Tyrfs) http://identifiers.org/clinvar/37541 ^@ NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu) http://identifiers.org/clinvar/37594 ^@ NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) http://identifiers.org/clinvar/37647 ^@ NM_007294.3(BRCA1):c.5194-2A>G http://identifiers.org/clinvar/37703 ^@ NM_007294.3(BRCA1):c.81-6T>C http://identifiers.org/clinvar/38172 ^@ NM_000059.3(BRCA2):c.8633-2A>G http://identifiers.org/clinvar/39612 ^@ NM_001101426.3(ISPD):c.713C>T (p.Thr238Ile) http://identifiers.org/clinvar/39663 ^@ NM_000833.4(GRIN2A):c.1655C>G (p.Pro552Arg) http://identifiers.org/clinvar/39715 ^@ SEMA3A, 213-KB DEL http://identifiers.org/clinvar/39766 ^@ NM_002465.3(MYBPC1):c.952C>T (p.Arg318Ter) http://identifiers.org/clinvar/39816 ^@ NM_181690.2(AKT3):c.49G>A (p.Glu17Lys) http://identifiers.org/clinvar/39867 ^@ NM_020376.3(PNPLA2):c.757+1G>T http://identifiers.org/clinvar/40051 ^@ NM_001310338.1(MGME1):c.456G>A (p.Trp152Ter) http://identifiers.org/clinvar/40206 ^@ NM_014813.2(LRIG2):c.1230delA (p.Glu410Aspfs) http://identifiers.org/clinvar/40343 ^@ NM_004333.4(BRAF):c.439A>G (p.Ser147Gly) http://identifiers.org/clinvar/40417 ^@ NM_005188.3(CBL):c.2206A>G (p.Asn736Asp) http://identifiers.org/clinvar/40485 ^@ NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) http://identifiers.org/clinvar/40542 ^@ NM_002834.4(PTPN11):c.1093-9C>A http://identifiers.org/clinvar/40604 ^@ NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) http://identifiers.org/clinvar/40674 ^@ NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) http://identifiers.org/clinvar/40762 ^@ NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) http://identifiers.org/clinvar/40891 ^@ NM_000557.4(GDF5):c.1139G>A (p.Arg380Gln) http://identifiers.org/clinvar/41027 ^@ NM_000530.7(MPZ):c.645+1G>T http://identifiers.org/clinvar/41083 ^@ NM_003611.2(OFD1):c.1587delA (p.Ala530Leufs) http://identifiers.org/clinvar/41140 ^@ NM_003611.2(OFD1):c.707_719delAAAAGTATGAAAA (p.Lys236Argfs) http://identifiers.org/clinvar/41191 ^@ NM_003977.3(AIP):c.601A>T (p.Lys201Ter) http://identifiers.org/clinvar/51152 ^@ NM_000059.3(BRCA2):c.1597delA (p.Thr533Leufs) http://identifiers.org/clinvar/51202 ^@ NM_000059.3(BRCA2):c.1813_1814insC (p.Ile605Thrfs) http://identifiers.org/clinvar/51255 ^@ NM_000059.3(BRCA2):c.2209G>T (p.Ala737Ser) http://identifiers.org/clinvar/51305 ^@ NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) http://identifiers.org/clinvar/51356 ^@ NM_000059.3(BRCA2):c.2836_2837delGA (p.Asp946Phefs) http://identifiers.org/clinvar/51406 ^@ NM_000059.3(BRCA2):c.314T>G (p.Leu105Ter) http://identifiers.org/clinvar/51458 ^@ NM_000059.3(BRCA2):c.3413A>T (p.Gln1138Leu) http://identifiers.org/clinvar/51509 ^@ NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs) http://identifiers.org/clinvar/51560 ^@ NM_000059.3(BRCA2):c.3911delC (p.Thr1304Ilefs) http://identifiers.org/clinvar/51611 ^@ NM_000059.3(BRCA2):c.4174G>A (p.Val1392Ile) http://identifiers.org/clinvar/51663 ^@ NM_000059.3(BRCA2):c.4536_4539dupTGAT (p.Glu1514Terfs) http://identifiers.org/clinvar/51715 ^@ NM_000059.3(BRCA2):c.4797delT (p.Asn1599Lysfs) http://identifiers.org/clinvar/51766 ^@ NM_000059.3(BRCA2):c.5098G>A (p.Gly1700Ser) http://identifiers.org/clinvar/51817 ^@ NM_000059.3(BRCA2):c.5208delA (p.Asp1737Ilefs) http://identifiers.org/clinvar/51871 ^@ NM_000059.3(BRCA2):c.5479A>G (p.Ile1827Val) http://identifiers.org/clinvar/51923 ^@ NM_000059.3(BRCA2):c.5734G>T (p.Glu1912Ter) http://identifiers.org/clinvar/51974 ^@ NM_000059.3(BRCA2):c.595_599dupGCTAC (p.Pro201Leufs) http://identifiers.org/clinvar/52025 ^@ NM_000059.3(BRCA2):c.6178delA (p.Thr2060Glnfs) http://identifiers.org/clinvar/52078 ^@ NM_000059.3(BRCA2):c.6384A>C (p.Lys2128Asn) http://identifiers.org/clinvar/52130 ^@ NM_000059.3(BRCA2):c.6589delA (p.Thr2197Leufs) http://identifiers.org/clinvar/52879 ^@ NM_000059.3(BRCA2):c.9648+106delT http://identifiers.org/clinvar/52929 ^@ NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) http://identifiers.org/clinvar/52979 ^@ NM_000218.2(KCNQ1):c.1345dupG (p.Glu449Glyfs) http://identifiers.org/clinvar/53029 ^@ NM_000218.2(KCNQ1):c.2025dupG (p.Ser676Valfs) http://identifiers.org/clinvar/53079 ^@ NM_000218.2(KCNQ1):c.612C>G (p.Ile204Met) http://identifiers.org/clinvar/53130 ^@ NM_000218.2(KCNQ1):c.923T>A (p.Val308Asp) http://identifiers.org/clinvar/53182 ^@ NM_000492.3(CFTR):c.1079C>G (p.Thr360Arg) http://identifiers.org/clinvar/53234 ^@ NM_000492.3(CFTR):c.1355A>C (p.Gln452Pro) http://identifiers.org/clinvar/53336 ^@ NM_000492.3(CFTR):c.1679+5A>G http://identifiers.org/clinvar/53386 ^@ NM_000492.3(CFTR):c.178G>A (p.Glu60Lys) http://identifiers.org/clinvar/53438 ^@ NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg) http://identifiers.org/clinvar/53491 ^@ NM_000492.3(CFTR):c.2464G>A (p.Glu822Lys) http://identifiers.org/clinvar/53541 ^@ NM_000492.3(CFTR):c.266A>G (p.Tyr89Cys) http://identifiers.org/clinvar/53591 ^@ NM_000492.3(CFTR):c.2909-11_2909-5delGTATATT http://identifiers.org/clinvar/53642 ^@ NM_000492.3(CFTR):c.305T>C (p.Leu102Pro) http://identifiers.org/clinvar/53694 ^@ NM_000492.3(CFTR):c.3257C>T (p.Thr1086Ile) http://identifiers.org/clinvar/53744 ^@ NM_000492.3(CFTR):c.3443A>G (p.Asn1148Ser) http://identifiers.org/clinvar/53795 ^@ NM_000492.3(CFTR):c.3719T>G (p.Val1240Gly) http://identifiers.org/clinvar/53849 ^@ NM_000492.3(CFTR):c.3909_3914delCTTGGAinsTGT (p.Leu1304_Asp1305delinsVal) http://identifiers.org/clinvar/53899 ^@ NM_000492.3(CFTR):c.4140delA (p.Tyr1381Thrfs) http://identifiers.org/clinvar/53950 ^@ NM_000492.3(CFTR):c.444_445insCTA (p.Ile148_Gly149insLeu) http://identifiers.org/clinvar/54000 ^@ NM_000492.3(CFTR):c.558C>A (p.Asn186Lys) http://identifiers.org/clinvar/54050 ^@ NM_000492.3(CFTR):c.741C>G (p.Tyr247Ter) http://identifiers.org/clinvar/54102 ^@ NM_007294.3(BRCA1):c.1011dupA (p.Val340Glyfs) http://identifiers.org/clinvar/54152 ^@ NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) http://identifiers.org/clinvar/54604 ^@ NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) http://identifiers.org/clinvar/54654 ^@ NM_007294.3(BRCA1):c.2709delT (p.Cys903Trpfs) http://identifiers.org/clinvar/55653 ^@ NM_007294.3(BRCA1):c.64_65delTT (p.Leu22Argfs) http://identifiers.org/clinvar/55706 ^@ NM_007294.3(BRCA1):c.792T>G (p.Ser264Arg) http://identifiers.org/clinvar/55757 ^@ NM_007294.3(BRCA1):c.927delA (p.Lys309Asnfs) http://identifiers.org/clinvar/55829 ^@ NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) http://identifiers.org/clinvar/55906 ^@ NM_007259.4(VPS45):c.671C>A (p.Thr224Asn) http://identifiers.org/clinvar/55965 ^@ NM_000111.2(SLC26A3):c.1148_1149delTA (p.Ile383Serfs) http://identifiers.org/clinvar/56018 ^@ NM_000112.3(SLC26A2):c.1976delT (p.Leu659Terfs) http://identifiers.org/clinvar/56069 ^@ NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) http://identifiers.org/clinvar/56122 ^@ NM_000274.3(OAT):c.311A>G (p.Gln104Arg) http://identifiers.org/clinvar/56174 ^@ NM_000310.3(PPT1):c.114delG (p.Trp38Cysfs) http://identifiers.org/clinvar/101196 ^@ NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser) http://identifiers.org/clinvar/101246 ^@ NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val) http://identifiers.org/clinvar/101296 ^@ NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) http://identifiers.org/clinvar/101346 ^@ NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg) http://identifiers.org/clinvar/101396 ^@ NM_000090.3(COL3A1):c.2534dupC (p.Gly846Trpfs) http://identifiers.org/clinvar/101446 ^@ NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val) http://identifiers.org/clinvar/101496 ^@ NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) http://identifiers.org/clinvar/102459 ^@ NM_000277.1(PAH):c.-147C>T http://identifiers.org/clinvar/102510 ^@ NM_000277.1(PAH):c.1066-31G>A http://identifiers.org/clinvar/102567 ^@ NM_000277.1(PAH):c.1217T>C (p.Ile406Thr) http://identifiers.org/clinvar/102619 ^@ NM_000277.1(PAH):c.187A>C (p.Thr63Pro) http://identifiers.org/clinvar/102673 ^@ NM_000277.1(PAH):c.441+47C>T http://identifiers.org/clinvar/102724 ^@ NM_000277.1(PAH):c.527G>A (p.Arg176Gln) http://identifiers.org/clinvar/102775 ^@ NM_000277.1(PAH):c.665A>G (p.Asp222Gly) http://identifiers.org/clinvar/102825 ^@ NM_000277.1(PAH):c.760T>A (p.Phe254Ile) http://identifiers.org/clinvar/102877 ^@ NM_000277.1(PAH):c.848T>A (p.Ile283Asn) http://identifiers.org/clinvar/102927 ^@ NM_000277.1(PAH):c.995G>A (p.Gly332Glu) http://identifiers.org/clinvar/102985 ^@ NM_153447.4(NLRP5):c.-405T>A http://identifiers.org/clinvar/103035 ^@ NM_001079821.2(NLRP3):c.2157-109C>A http://identifiers.org/clinvar/103085 ^@ NM_001199138.1(NLRC4):c.928C>T (p.Arg310Ter) http://identifiers.org/clinvar/125895 ^@ NM_007294.3(BRCA1):c.593+10A>G http://identifiers.org/clinvar/125957 ^@ NM_000059.3(BRCA2):c.-39-7T>C http://identifiers.org/clinvar/126020 ^@ NM_000059.3(BRCA2):c.3730_3734delATTGAins4 http://identifiers.org/clinvar/126095 ^@ NM_000059.3(BRCA2):c.425+67A>C http://identifiers.org/clinvar/126431 ^@ NM_001017975.4(HFM1):c.3929_3930delCCinsG (p.Pro1310Argfs) http://identifiers.org/clinvar/126504 ^@ NM_012338.3(TSPAN12):c.67-1G>C http://identifiers.org/clinvar/126585 ^@ NM_024675.3(PALB2):c.1050_1051delAAinsTCT (p.Gln350Hisfs) http://identifiers.org/clinvar/126635 ^@ NM_024675.3(PALB2):c.212-58A>C http://identifiers.org/clinvar/126687 ^@ NM_024675.3(PALB2):c.2834+21_2834+27del http://identifiers.org/clinvar/126737 ^@ NM_024675.3(PALB2):c.3350+4A>G http://identifiers.org/clinvar/126788 ^@ NM_000321.2(RB1):c.1909C>T (p.Gln637Ter) http://identifiers.org/clinvar/126839 ^@ NM_000321.2(RB1):c.1472T>C (p.Leu491Pro) http://identifiers.org/clinvar/126898 ^@ NM_007194.3(CHEK2):c.122C>T (p.Ser41Phe) http://identifiers.org/clinvar/126948 ^@ NM_000428.2(LTBP2):c.4720+7G>A http://identifiers.org/clinvar/126998 ^@ NM_005732.3(RAD50):c.1052-38C>T http://identifiers.org/clinvar/127048 ^@ NM_134424.3(RAD52):c.*322T>A http://identifiers.org/clinvar/127105 ^@ NM_001080517.2(SETD5):c.3771dupG (p.Ser1258Glufs) http://identifiers.org/clinvar/127172 ^@ NM_001101.3(ACTB):c.625G>A (p.Val209Met) http://identifiers.org/clinvar/127271 ^@ NM_207036.1(TCF12):c.1366dupA (p.Ile456Asnfs) http://identifiers.org/clinvar/127322 ^@ NM_000038.5(APC):c.8068G>A (p.Ala2690Thr) http://identifiers.org/clinvar/127372 ^@ NM_000051.3(ATM):c.3449G>C (p.Arg1150Thr) http://identifiers.org/clinvar/127422 ^@ NM_000051.3(ATM):c.6178C>T (p.Arg2060Cys) http://identifiers.org/clinvar/127473 ^@ NM_000057.3(BLM):c.11T>C (p.Val4Ala) http://identifiers.org/clinvar/127624 ^@ NM_000251.2(MSH2):c.-3G>C http://identifiers.org/clinvar/127680 ^@ NM_000314.6(PTEN):c.-907T>G http://identifiers.org/clinvar/127733 ^@ NM_000465.3(BARD1):c.2207A>T (p.Tyr736Phe) http://identifiers.org/clinvar/127783 ^@ NM_000535.6(PMS2):c.2437C>T (p.Arg813Trp) http://identifiers.org/clinvar/158661 ^@ NM_018486.2(HDAC8):c.421_423delTGG (p.Trp141del) http://identifiers.org/clinvar/160885 ^@ GRCh38/hg38 3q29(chr3:196013486-197590232)x1 http://identifiers.org/clinvar/160937 ^@ GRCh37/hg19 17q12(chr17:34856055-36248918)x3 http://identifiers.org/clinvar/160987 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 http://identifiers.org/clinvar/161038 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 http://identifiers.org/clinvar/161088 ^@ GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 http://identifiers.org/clinvar/161138 ^@ NM_152296.4(ATP1A3):c.2318A>G (p.Asn773Ser) http://identifiers.org/clinvar/161320 ^@ NM_000257.3(MYH7):c.5561C>T (p.Thr1854Met) http://identifiers.org/clinvar/161270 ^@ NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) http://identifiers.org/clinvar/161370 ^@ NM_000540.2(RYR1):c.3800C>G (p.Pro1267Arg) http://identifiers.org/clinvar/161220 ^@ NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) http://identifiers.org/clinvar/161433 ^@ NM_006261.4(PROP1):c.274C>T (p.Gln92Ter) http://identifiers.org/clinvar/161839 ^@ NM_178556.4(TRIML1):c.1188A>T (p.Lys396Asn) http://identifiers.org/clinvar/161639 ^@ NM_005723.3(TSPAN5):c.268C>A (p.Leu90Ile) http://identifiers.org/clinvar/161589 ^@ NM_001999.3(FBN2):c.6177A>C (p.Glu2059Asp) http://identifiers.org/clinvar/161539 ^@ NM_001160036.1(RHOBTB2):c.458C>G (p.Pro153Arg) http://identifiers.org/clinvar/161789 ^@ NM_033439.3(IL33):c.712G>A (p.Val238Met) http://identifiers.org/clinvar/161689 ^@ NM_015011.1(MYO16):c.3428T>G (p.Leu1143Trp) http://identifiers.org/clinvar/161739 ^@ NM_020856.3(TSHZ3):c.1181C>T (p.Ser394Leu) http://identifiers.org/clinvar/161489 ^@ NM_001007561.2(IRGQ):c.1795G>A (p.Gly599Ser) http://identifiers.org/clinvar/162009 ^@ NC_000014.9:g.100489287_100900640del411354 http://identifiers.org/clinvar/162073 ^@ NM_002019.4(FLT1):c.3175-69A>T http://identifiers.org/clinvar/162129 ^@ NM_005211.3(CSF1R):c.2562T>A (p.Asn854Lys) http://identifiers.org/clinvar/162198 ^@ NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) http://identifiers.org/clinvar/162400 ^@ NM_014264.4(PLK4):c.2811-5C>G http://identifiers.org/clinvar/162481 ^@ NM_004208.3(AIFM1):c.1424C>T (p.Pro475Leu) http://identifiers.org/clinvar/162547 ^@ NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) http://identifiers.org/clinvar/162627 ^@ NM_001199252.2(SGO1):c.67A>G (p.Lys23Glu) http://identifiers.org/clinvar/162739 ^@ NM_001103.3(ACTN2):c.2063A>G (p.Tyr688Cys) http://identifiers.org/clinvar/179418 ^@ NM_133378.4(TTN):c.87426C>A (p.Gly29142=) http://identifiers.org/clinvar/179268 ^@ NM_206933.2(USH2A):c.10312G>A (p.Ala3438Thr) http://identifiers.org/clinvar/179068 ^@ NM_206933.2(USH2A):c.10896C>T (p.Leu3632=) http://identifiers.org/clinvar/179618 ^@ NM_201557.3(FHL2):c.671G>T (p.Cys224Phe) http://identifiers.org/clinvar/178918 ^@ NM_133378.4(TTN):c.33800G>A (p.Arg11267Gln) http://identifiers.org/clinvar/178817 ^@ NM_133378.4(TTN):c.18629G>A (p.Arg6210Lys) http://identifiers.org/clinvar/179668 ^@ NM_004415.3(DSP):c.4490G>A (p.Arg1497Gln) http://identifiers.org/clinvar/179118 ^@ NM_004403.2(DFNA5):c.991T>C (p.Cys331Arg) http://identifiers.org/clinvar/198663 ^@ NM_182914.2(SYNE2):c.13918-6T>C http://identifiers.org/clinvar/198714 ^@ NM_000303.2(PMM2):c.713G>A (p.Arg238His) http://identifiers.org/clinvar/198821 ^@ NM_005477.2(HCN4):c.2601C>A (p.Ala867=) http://identifiers.org/clinvar/201174 ^@ NM_001035.2(RYR2):c.-50_-48dupCCG http://identifiers.org/clinvar/201229 ^@ NM_001035.2(RYR2):c.2399T>C (p.Val800Ala) http://identifiers.org/clinvar/201283 ^@ NM_001035.2(RYR2):c.7925G>A (p.Arg2642Lys) http://identifiers.org/clinvar/201338 ^@ NM_001035.2(RYR2):c.12583G>A (p.Asp4195Asn) http://identifiers.org/clinvar/201506 ^@ NM_198056.2(SCN5A):c.4109A>G (p.Asp1370Gly) http://identifiers.org/clinvar/201564 ^@ NM_198056.2(SCN5A):c.3142_3153delCCCATCGCTGTGinsTCTGACTGTGT (p.Pro1048Serfs) http://identifiers.org/clinvar/201450 ^@ NM_198056.2(SCN5A):c.1273G>A (p.Ala425Thr) http://identifiers.org/clinvar/201397 ^@ NM_198056.2(SCN5A):c.42C>T (p.Arg14=) http://identifiers.org/clinvar/200693 ^@ NM_000238.3(KCNH2):c.2959_2960delCT (p.Leu987Valfs) http://identifiers.org/clinvar/200425 ^@ NM_000238.3(KCNH2):c.2326C>T (p.Leu776Phe) http://identifiers.org/clinvar/200272 ^@ NM_000238.3(KCNH2):c.51C>G (p.Thr17=) http://identifiers.org/clinvar/200588 ^@ NM_000238.3(KCNH2):c.31C>T (p.Gln11Ter) http://identifiers.org/clinvar/200810 ^@ NM_000218.2(KCNQ1):c.1033-3C>T http://identifiers.org/clinvar/200863 ^@ NM_000218.2(KCNQ1):c.1829C>A (p.Thr610Asn) http://identifiers.org/clinvar/200993 ^@ NM_130799.2(MEN1):c.57_58insT (p.Val20Cysfs) http://identifiers.org/clinvar/200181 ^@ NM_000138.4(FBN1):c.2582G>A (p.Arg861Gln) http://identifiers.org/clinvar/201053 ^@ NM_002474.2(MYH11):c.1768G>A (p.Ala590Thr) http://identifiers.org/clinvar/201107 ^@ NM_002474.2(MYH11):c.1202T>C (p.Ile401Thr) http://identifiers.org/clinvar/200923 ^@ NM_000527.4(LDLR):c.2098G>A (p.Asp700Asn) http://identifiers.org/clinvar/201624 ^@ NM_001103.3(ACTN2):c.2644G>A (p.Ala882Thr) http://identifiers.org/clinvar/201678 ^@ NM_004281.3(BAG3):c.-50C>T http://identifiers.org/clinvar/201899 ^@ NM_006393.2(NEBL):c.2307T>C (p.Ala769=) http://identifiers.org/clinvar/201844 ^@ NM_007078.2(LDB3):c.955G>A (p.Ala319Thr) http://identifiers.org/clinvar/201790 ^@ NM_004517.3(ILK):c.184G>A (p.Val62Ile) http://identifiers.org/clinvar/201734 ^@ NM_004006.2(DMD):c.4973G>A (p.Ser1658Asn) http://identifiers.org/clinvar/203015 ^@ NM_001256850.1(TTN):c.90643C>T (p.Arg30215Cys) http://identifiers.org/clinvar/202965 ^@ NM_001256850.1(TTN):c.85327A>G (p.Lys28443Glu) http://identifiers.org/clinvar/202915 ^@ NM_001256850.1(TTN):c.77936G>T (p.Cys25979Phe) http://identifiers.org/clinvar/202865 ^@ NM_001256850.1(TTN):c.71096T>A (p.Val23699Asp) http://identifiers.org/clinvar/230004 ^@ NM_005732.3(RAD50):c.645A>T (p.Gln215His) http://identifiers.org/clinvar/229954 ^@ NM_005732.3(RAD50):c.2330C>T (p.Thr777Ile) http://identifiers.org/clinvar/229704 ^@ NM_004168.3(SDHA):c.64-3C>T http://identifiers.org/clinvar/230054 ^@ NM_004168.3(SDHA):c.106A>G (p.Thr36Ala) http://identifiers.org/clinvar/231993 ^@ NM_000535.6(PMS2):c.2155C>T (p.Gln719Ter) http://identifiers.org/clinvar/234136 ^@ NM_000535.6(PMS2):c.705G>A (p.Gln235=) http://identifiers.org/clinvar/232093 ^@ NM_002485.4(NBN):c.2227_2228delCT (p.Leu743Phefs) http://identifiers.org/clinvar/233044 ^@ NM_002485.4(NBN):c.687T>G (p.Phe229Leu) http://identifiers.org/clinvar/230504 ^@ NM_000368.4(TSC1):c.2938G>A (p.Glu980Lys) http://identifiers.org/clinvar/231543 ^@ NM_000368.4(TSC1):c.1749C>T (p.Pro583=) http://identifiers.org/clinvar/232644 ^@ NM_020975.4(RET):c.2462A>G (p.Lys821Arg) http://identifiers.org/clinvar/230554 ^@ NM_000314.6(PTEN):c.949G>A (p.Val317Ile) http://identifiers.org/clinvar/230404 ^@ NM_000051.3(ATM):c.606_609delTGAC (p.Gly204Terfs) http://identifiers.org/clinvar/232343 ^@ NM_000051.3(ATM):c.2251-1G>C http://identifiers.org/clinvar/231843 ^@ NM_000051.3(ATM):c.4437-1G>C http://identifiers.org/clinvar/234186 ^@ NM_000051.3(ATM):c.7901A>T (p.Asp2634Val) http://identifiers.org/clinvar/232293 ^@ NM_005591.3(MRE11):c.716A>G (p.Asp239Gly) http://identifiers.org/clinvar/232143 ^@ NM_005591.3(MRE11):c.292T>C (p.Ser98Pro) http://identifiers.org/clinvar/232243 ^@ NM_000059.3(BRCA2):c.102A>G (p.Glu34=) http://identifiers.org/clinvar/230304 ^@ NM_000059.3(BRCA2):c.2629C>A (p.Pro877Thr) http://identifiers.org/clinvar/232193 ^@ NM_000059.3(BRCA2):c.3555A>G (p.Thr1185=) http://identifiers.org/clinvar/230354 ^@ NM_000059.3(BRCA2):c.4137G>A (p.Gln1379=) http://identifiers.org/clinvar/229904 ^@ NM_000059.3(BRCA2):c.4685A>C (p.Gln1562Pro) http://identifiers.org/clinvar/229654 ^@ NM_000059.3(BRCA2):c.5988A>G (p.Ala1996=) http://identifiers.org/clinvar/232794 ^@ NM_000059.3(BRCA2):c.7977-4_7977-3delTT http://identifiers.org/clinvar/232894 ^@ NM_000059.3(BRCA2):c.9350A>G (p.His3117Arg) http://identifiers.org/clinvar/232594 ^@ NM_024675.3(PALB2):c.3350G>A (p.Arg1117Lys) http://identifiers.org/clinvar/232994 ^@ NM_144997.5(FLCN):c.164A>G (p.Asn55Ser) http://identifiers.org/clinvar/230104 ^@ NM_144997.5(FLCN):c.59delT (p.Phe20Serfs) http://identifiers.org/clinvar/233986 ^@ NM_001042492.2(NF1):c.108T>C (p.Thr36=) http://identifiers.org/clinvar/232944 ^@ NM_001042492.2(NF1):c.1529A>G (p.Asn510Ser) http://identifiers.org/clinvar/231893 ^@ NM_001042492.2(NF1):c.2476A>C (p.Ile826Leu) http://identifiers.org/clinvar/229804 ^@ NM_001042492.2(NF1):c.2589_2592delTAGC (p.Ser864Hisfs) http://identifiers.org/clinvar/231393 ^@ NM_001042492.2(NF1):c.3727C>T (p.Leu1243=) http://identifiers.org/clinvar/232744 ^@ NM_001042492.2(NF1):c.4266dupT (p.Glu1423Terfs) http://identifiers.org/clinvar/232443 ^@ NM_001042492.2(NF1):c.6546C>T (p.Tyr2182=) http://identifiers.org/clinvar/234236 ^@ NM_007294.3(BRCA1):c.4097G>A (p.Gly1366Asp) http://identifiers.org/clinvar/232493 ^@ NM_007294.3(BRCA1):c.3750G>A (p.Glu1250=) http://identifiers.org/clinvar/232694 ^@ NM_007294.3(BRCA1):c.3241A>G (p.Asn1081Asp) http://identifiers.org/clinvar/232543 ^@ NM_007294.3(BRCA1):c.456delC (p.Ser153Valfs) http://identifiers.org/clinvar/233936 ^@ NM_058216.2(RAD51C):c.397C>A (p.Gln133Lys) http://identifiers.org/clinvar/229854 ^@ NM_058216.2(RAD51C):c.837+1G>A http://identifiers.org/clinvar/230204 ^@ NM_032043.2(BRIP1):c.291C>T (p.Asn97=) http://identifiers.org/clinvar/233244 ^@ NM_000546.5(TP53):c.1088G>A (p.Arg363Lys) http://identifiers.org/clinvar/234036 ^@ NM_000546.5(TP53):c.715A>G (p.Asn239Asp) http://identifiers.org/clinvar/230254 ^@ NM_000546.5(TP53):c.640C>A (p.His214Asn) http://identifiers.org/clinvar/234924 ^@ NM_007077.4(AP4S1):c.289C>T (p.Arg97Ter) http://identifiers.org/clinvar/235061 ^@ NM_003280.2(TNNC1):c.431A>G (p.Asn144Ser) http://identifiers.org/clinvar/235011 ^@ NC_012920.1:m.10046T>C http://identifiers.org/clinvar/235186 ^@ NM_018946.3(NANS):c.448+1G>A http://identifiers.org/clinvar/235250 ^@ NM_000411.6(HLCS):c.2005C>T (p.His669Tyr) http://identifiers.org/clinvar/235303 ^@ NM_003664.4(AP3B1):c.2042A>G (p.Glu681Gly) http://identifiers.org/clinvar/235354 ^@ NM_000356.3(TCOF1):c.1730C>T (p.Ala577Val) http://identifiers.org/clinvar/241033 ^@ NM_015284.3(SZT2):c.4310-5A>G http://identifiers.org/clinvar/237127 ^@ NM_000179.2(MSH6):c.1134A>C (p.Arg378Ser) http://identifiers.org/clinvar/237177 ^@ NM_000179.2(MSH6):c.3079G>A (p.Val1027Ile) http://identifiers.org/clinvar/240983 ^@ NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) http://identifiers.org/clinvar/237328 ^@ NM_000249.3(MLH1):c.2024G>T (p.Ser675Ile) http://identifiers.org/clinvar/240683 ^@ NM_006514.3(SCN10A):c.87T>C (p.Ala29=) http://identifiers.org/clinvar/240333 ^@ NM_006206.4(PDGFRA):c.273G>A (p.Ser91=) http://identifiers.org/clinvar/237278 ^@ NM_000222.2(KIT):c.504G>A (p.Ala168=) http://identifiers.org/clinvar/240233 ^@ NM_005732.3(RAD50):c.3164+4T>C http://identifiers.org/clinvar/241433 ^@ NM_022455.4(NSD1):c.2340G>A (p.Ser780=) http://identifiers.org/clinvar/240283 ^@ NM_006073.3(TRDN):c.1627C>A (p.Gln543Lys) http://identifiers.org/clinvar/241183 ^@ NM_017651.4(AHI1):c.1693C>T (p.Arg565Cys) http://identifiers.org/clinvar/240883 ^@ NM_014141.5(CNTNAP2):c.18C>A (p.Arg6=) http://identifiers.org/clinvar/240933 ^@ NM_014855.2(AP5Z1):c.1267G>A (p.Gly423Arg) http://identifiers.org/clinvar/261582 ^@ NM_022455.4(NSD1):c.2731C>T (p.Leu911=) http://identifiers.org/clinvar/263021 ^@ NM_182925.4(FLT4):c.1258+14G>A http://identifiers.org/clinvar/263071 ^@ NM_182925.4(FLT4):c.816+18G>C http://identifiers.org/clinvar/254943 ^@ NM_000082.3(ERCC8):c.482-17C>T http://identifiers.org/clinvar/261182 ^@ NM_019105.6(TNXB):c.9693T>C (p.His3231=) http://identifiers.org/clinvar/261132 ^@ NM_019105.6(TNXB):c.2977C>T (p.Leu993=) http://identifiers.org/clinvar/261432 ^@ NM_021922.2(FANCE):c.1071C>T (p.Leu357=) http://identifiers.org/clinvar/255743 ^@ NM_000287.3(PEX6):c.813G>T (p.Ala271=) http://identifiers.org/clinvar/258342 ^@ NM_001851.4(COL9A1):c.14+39A>G http://identifiers.org/clinvar/263121 ^@ NM_198428.2(BBS9):c.1694-6T>C http://identifiers.org/clinvar/255443 ^@ NM_000168.5(GLI3):c.4609C>T (p.Arg1537Cys) http://identifiers.org/clinvar/260932 ^@ NM_017802.3(DNAAF5):c.2228G>A (p.Arg743Lys) http://identifiers.org/clinvar/258992 ^@ NM_003235.4(TG):c.3848-20T>C http://identifiers.org/clinvar/261082 ^@ NM_019098.4(CNGB3):c.1356G>A (p.Gln452=) http://identifiers.org/clinvar/255143 ^@ NM_000118.3(ENG):c.1687-7C>T http://identifiers.org/clinvar/254743 ^@ NM_000050.4(ASS1):c.174+21A>G http://identifiers.org/clinvar/255093 ^@ NM_000093.4(COL5A1):c.4955-48G>A http://identifiers.org/clinvar/263271 ^@ NM_203447.3(DOCK8):c.895-16T>C http://identifiers.org/clinvar/261332 ^@ NM_020549.4(CHAT):c.2178G>A (p.Pro726=) http://identifiers.org/clinvar/260732 ^@ NM_016341.3(PLCE1):c.6771G>A (p.Lys2257=) http://identifiers.org/clinvar/258892 ^@ NM_003002.3(SDHD):c.314+20delA http://identifiers.org/clinvar/260482 ^@ NM_014956.4(CEP164):c.2963C>G (p.Thr988Ser) http://identifiers.org/clinvar/260782 ^@ NM_016952.4(CDON):c.1296G>A (p.Pro432=) http://identifiers.org/clinvar/258642 ^@ NM_002335.3(LRP5):c.884-4T>C http://identifiers.org/clinvar/261232 ^@ NM_020376.3(PNPLA2):c.1327C>G (p.Leu443Val) http://identifiers.org/clinvar/255493 ^@ NM_000192.3(TBX5):c.755+35A>G http://identifiers.org/clinvar/254693 ^@ NM_000017.3(ACADS):c.*4C>T http://identifiers.org/clinvar/258242 ^@ NM_001844.4(COL2A1):c.610-34T>C http://identifiers.org/clinvar/262571 ^@ NM_145064.2(STAC3):c.1086G>A (p.Glu362=) http://identifiers.org/clinvar/261032 ^@ NM_018451.4(CENPJ):c.3619-12G>T http://identifiers.org/clinvar/261382 ^@ NM_020937.3(FANCM):c.229A>G (p.Thr77Ala) http://identifiers.org/clinvar/258842 ^@ NM_002863.4(PYGL):c.244-34G>A http://identifiers.org/clinvar/258592 ^@ NM_002225.3(IVD):c.97C>T (p.His33Tyr) http://identifiers.org/clinvar/255293 ^@ NM_000138.4(FBN1):c.3465C>T (p.Asp1155=) http://identifiers.org/clinvar/336068 ^@ NM_022437.2(ABCG8):c.342G>A (p.Leu114=) http://identifiers.org/clinvar/336318 ^@ NM_001430.4(EPAS1):c.*1620G>C http://identifiers.org/clinvar/336368 ^@ NM_139279.5(MCFD2):c.*693G>C http://identifiers.org/clinvar/333627 ^@ NM_001204.6(BMPR2):c.-704C>G http://identifiers.org/clinvar/336475 ^@ NM_000145.3(FSHR):c.*256C>T http://identifiers.org/clinvar/336525 ^@ NM_001135659.2(NRXN1):c.*1090G>A http://identifiers.org/clinvar/333327 ^@ NM_001006657.1(WDR35):c.*2797G>A http://identifiers.org/clinvar/333877 ^@ NM_006891.3(CRYGD):c.-39C>T http://identifiers.org/clinvar/336775 ^@ NM_015910.5(WDPCP):c.-188G>C http://identifiers.org/clinvar/333527 ^@ NM_001044385.2(TMEM237):c.*4020T>A http://identifiers.org/clinvar/336825 ^@ NM_002056.3(GFPT1):c.*3019G>T http://identifiers.org/clinvar/333577 ^@ NM_020919.3(ALS2):c.*893C>T http://identifiers.org/clinvar/333727 ^@ NM_001204.6(BMPR2):c.*7306A>G http://identifiers.org/clinvar/337025 ^@ NM_015120.4(ALMS1):c.8482A>C (p.Arg2828=) http://identifiers.org/clinvar/334128 ^@ NM_000384.2(APOB):c.7242A>C (p.Glu2414Asp) http://identifiers.org/clinvar/337075 ^@ NM_004082.4(DCTN1):c.3478A>C (p.Asn1160His) http://identifiers.org/clinvar/333927 ^@ NM_015040.3(PIKFYVE):c.4989C>T (p.Cys1663=) http://identifiers.org/clinvar/337375 ^@ NM_022912.2(REEP1):c.*1224A>G http://identifiers.org/clinvar/337425 ^@ NM_004836.6(EIF2AK3):c.-195G>T http://identifiers.org/clinvar/336575 ^@ NM_001135659.2(NRXN1):c.-951T>C http://identifiers.org/clinvar/337525 ^@ NM_014014.4(SNRNP200):c.6203T>A (p.Ile2068Asn) http://identifiers.org/clinvar/334379 ^@ NM_025216.2(WNT10A):c.-400T>G http://identifiers.org/clinvar/336675 ^@ NM_002618.3(PEX13):c.*263A>T http://identifiers.org/clinvar/334479 ^@ NM_015311.2(OBSL1):c.4181G>A (p.Arg1394His) http://identifiers.org/clinvar/336725 ^@ NM_032180.2(FAM161A):c.*617G>A http://identifiers.org/clinvar/334229 ^@ NM_173076.2(ABCA12):c.6102C>T (p.Asn2034=) http://identifiers.org/clinvar/342365 ^@ NM_033084.4(FANCD2):c.2067C>T (p.Tyr689=) http://identifiers.org/clinvar/336875 ^@ NM_002056.3(GFPT1):c.1947C>T (p.Ser649=) http://identifiers.org/clinvar/336925 ^@ NM_001692.3(ATP6V1B1):c.1276G>A (p.Val426Met) http://identifiers.org/clinvar/334429 ^@ NM_002181.3(IHH):c.*175C>G http://identifiers.org/clinvar/342715 ^@ NM_020754.3(ARHGAP31):c.*2192G>T http://identifiers.org/clinvar/337325 ^@ NM_003896.3(ST3GAL5):c.*455G>A http://identifiers.org/clinvar/342815 ^@ NM_000388.3(CASR):c.*1015A>G http://identifiers.org/clinvar/337475 ^@ NM_017849.3(TMEM127):c.*1819C>G http://identifiers.org/clinvar/342965 ^@ NM_000373.3(UMPS):c.*1711T>G http://identifiers.org/clinvar/343165 ^@ NM_004637.5(RAB7A):c.*196_*197dupCA http://identifiers.org/clinvar/343315 ^@ NM_014382.3(ATP2C1):c.-66C>T http://identifiers.org/clinvar/342515 ^@ NM_198196.2(CD96):c.-117G>A http://identifiers.org/clinvar/342565 ^@ NM_198196.2(CD96):c.*844A>G http://identifiers.org/clinvar/343415 ^@ NM_003571.3(BFSP2):c.*140delG http://identifiers.org/clinvar/342765 ^@ NM_000187.3(HGD):c.-446G>T http://identifiers.org/clinvar/342915 ^@ NM_053025.3(MYLK):c.-186+10C>A http://identifiers.org/clinvar/343015 ^@ NM_000373.3(UMPS):c.*3990A>T http://identifiers.org/clinvar/350534 ^@ NM_001182.4(ALDH7A1):c.*2423C>T http://identifiers.org/clinvar/350834 ^@ NM_003060.3(SLC22A5):c.*1179G>T http://identifiers.org/clinvar/350684 ^@ NM_032446.2(MEGF10):c.*1052C>A http://identifiers.org/clinvar/357710 ^@ NM_001142800.1(EYS):c.4606C>A (p.Gln1536Lys) http://identifiers.org/clinvar/350984 ^@ NM_017415.2(KLHL3):c.1518C>T (p.Ser506=) http://identifiers.org/clinvar/358310 ^@ NM_000602.4(SERPINE1):c.537C>T (p.Ala179=) http://identifiers.org/clinvar/355221 ^@ NM_006073.3(TRDN):c.510A>G (p.Gly170=) http://identifiers.org/clinvar/355271 ^@ NM_000426.3(LAMA2):c.4790A>T (p.Asn1597Ile) http://identifiers.org/clinvar/355371 ^@ NM_006208.2(ENPP1):c.*772A>G http://identifiers.org/clinvar/355471 ^@ NM_172105.3(EYA4):c.*2511G>A http://identifiers.org/clinvar/351673 ^@ NM_024577.3(SH3TC2):c.*13230C>T http://identifiers.org/clinvar/358910 ^@ NM_018718.2(CEP41):c.*3069T>C http://identifiers.org/clinvar/355921 ^@ NM_033071.3(SYNE1):c.5841G>A (p.Gly1947=) http://identifiers.org/clinvar/351723 ^@ NM_024577.3(SH3TC2):c.*10079A>G http://identifiers.org/clinvar/352023 ^@ NM_000112.3(SLC26A2):c.793C>T (p.Leu265Phe) http://identifiers.org/clinvar/351823 ^@ NM_024577.3(SH3TC2):c.*4446G>C http://identifiers.org/clinvar/351873 ^@ NM_024577.3(SH3TC2):c.*932T>A http://identifiers.org/clinvar/359849 ^@ NM_004403.2(DFNA5):c.612C>T (p.Asp204=) http://identifiers.org/clinvar/359899 ^@ NM_018947.5(CYCS):c.*2801T>C http://identifiers.org/clinvar/360099 ^@ NM_133468.4(BMPER):c.372G>A (p.Pro124=) http://identifiers.org/clinvar/360299 ^@ NM_000162.3(GCK):c.393C>T (p.Ser131=) http://identifiers.org/clinvar/360449 ^@ NM_005228.4(EGFR):c.-216G>T http://identifiers.org/clinvar/357360 ^@ NM_138694.3(PKHD1):c.*3323T>C http://identifiers.org/clinvar/360849 ^@ NM_005751.4(AKAP9):c.10710A>G (p.Glu3570=) http://identifiers.org/clinvar/360949 ^@ NM_000089.3(COL1A2):c.892-13C>G http://identifiers.org/clinvar/358010 ^@ NM_004999.3(MYO6):c.*1139delA http://identifiers.org/clinvar/307194 ^@ NM_001681.3(ATP2A2):c.*628A>G http://identifiers.org/clinvar/364437 ^@ NM_005502.3(ABCA1):c.2089G>A (p.Ala697Thr) http://identifiers.org/clinvar/364487 ^@ NM_001079802.1(FKTN):c.277A>G (p.Thr93Ala) http://identifiers.org/clinvar/364537 ^@ NM_003640.4(IKBKAP):c.*1277T>G http://identifiers.org/clinvar/307644 ^@ NM_012463.3(ATP6V0A2):c.*3553G>A http://identifiers.org/clinvar/364587 ^@ NM_003640.4(IKBKAP):c.-155A>G http://identifiers.org/clinvar/364637 ^@ NM_000031.5(ALAD):c.*381G>A http://identifiers.org/clinvar/300990 ^@ NM_007055.3(POLR3A):c.*1924G>A http://identifiers.org/clinvar/307994 ^@ NM_021957.3(GYS2):c.1389T>C (p.Ile463=) http://identifiers.org/clinvar/308294 ^@ NM_139241.3(FGD4):c.1059C>T (p.Pro353=) http://identifiers.org/clinvar/301290 ^@ NM_033100.3(CDHR1):c.*1252C>T http://identifiers.org/clinvar/308844 ^@ NM_001017535.1(VDR):c.*1666A>C http://identifiers.org/clinvar/308894 ^@ NM_001844.4(COL2A1):c.*406A>G http://identifiers.org/clinvar/302090 ^@ NM_001080463.1(DYNC2H1):c.10347+6A>G http://identifiers.org/clinvar/309783 ^@ NM_002206.2(ITGA7):c.2217C>T (p.Ser739=) http://identifiers.org/clinvar/302240 ^@ NM_000051.3(ATM):c.-111G>A http://identifiers.org/clinvar/309933 ^@ NM_004984.2(KIF5A):c.396+14G>A http://identifiers.org/clinvar/309983 ^@ NM_000075.3(CDK4):c.-60C>G http://identifiers.org/clinvar/310133 ^@ NM_001038.5(SCNN1A):c.1686G>A (p.Ser562=) http://identifiers.org/clinvar/310233 ^@ NM_014319.4(LEMD3):c.1154C>G (p.Ser385Cys) http://identifiers.org/clinvar/310283 ^@ NM_021150.3(GRIP1):c.*735_*738dupAACA http://identifiers.org/clinvar/310533 ^@ NM_018979.3(WNK1):c.-91T>G http://identifiers.org/clinvar/303029 ^@ NM_005422.2(TECTA):c.4965C>T (p.Gly1655=) http://identifiers.org/clinvar/310988 ^@ NM_002312.3(LIG4):c.807C>T (p.Tyr269=) http://identifiers.org/clinvar/321862 ^@ NM_000304.3(PMP22):c.79-6C>T http://identifiers.org/clinvar/312727 ^@ NM_000270.3(PNP):c.11+5G>T http://identifiers.org/clinvar/314466 ^@ NM_052873.2(IFT43):c.21G>A (p.Leu7=) http://identifiers.org/clinvar/312777 ^@ NM_001145.4(ANG):c.441G>A (p.Pro147=) http://identifiers.org/clinvar/312827 ^@ NM_001126106.2(SLC7A7):c.234C>T (p.Val78=) http://identifiers.org/clinvar/314616 ^@ NM_004863.3(SPTLC2):c.*2960C>T http://identifiers.org/clinvar/314666 ^@ NM_004863.3(SPTLC2):c.1569+8G>T http://identifiers.org/clinvar/314766 ^@ NM_000153.3(GALC):c.-21C>T http://identifiers.org/clinvar/314866 ^@ NM_006329.3(FBLN5):c.*423T>C http://identifiers.org/clinvar/313177 ^@ NM_006194.3(PAX9):c.*328T>A http://identifiers.org/clinvar/322701 ^@ NM_145068.3(TRPV3):c.*2093C>T http://identifiers.org/clinvar/315016 ^@ NM_000295.4(SERPINA1):c.*419C>A http://identifiers.org/clinvar/322651 ^@ NM_000286.2(PEX12):c.*166C>A http://identifiers.org/clinvar/313327 ^@ NM_002863.4(PYGL):c.1004C>A (p.Ala335Asp) http://identifiers.org/clinvar/315066 ^@ NM_177438.2(DICER1):c.*2380T>C http://identifiers.org/clinvar/313377 ^@ NM_000161.2(GCH1):c.*736A>G http://identifiers.org/clinvar/315416 ^@ NM_144599.4(NIPA1):c.*435_*436delGT http://identifiers.org/clinvar/313477 ^@ NM_182914.2(SYNE2):c.-202G>C http://identifiers.org/clinvar/315366 ^@ NM_144599.4(NIPA1):c.*3126C>T http://identifiers.org/clinvar/315466 ^@ NM_000275.2(OCA2):c.1453G>A (p.Gly485Arg) http://identifiers.org/clinvar/313577 ^@ NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) http://identifiers.org/clinvar/323201 ^@ NM_021939.3(FKBP10):c.*549G>A http://identifiers.org/clinvar/323301 ^@ NM_000263.3(NAGLU):c.1503G>A (p.Val501=) http://identifiers.org/clinvar/315666 ^@ NM_005159.4(ACTC1):c.*1070A>C http://identifiers.org/clinvar/323701 ^@ NM_005910.5(MAPT):c.*2681C>G http://identifiers.org/clinvar/323751 ^@ NM_001193466.1(KANSL1):c.*742G>A http://identifiers.org/clinvar/323801 ^@ NM_001193466.1(KANSL1):c.-61C>T http://identifiers.org/clinvar/323851 ^@ NM_004287.4(GOSR2):c.*2195C>A http://identifiers.org/clinvar/316066 ^@ NM_201631.3(TGM5):c.10+11C>T http://identifiers.org/clinvar/323901 ^@ NM_000212.2(ITGB3):c.*1932C>G http://identifiers.org/clinvar/368416 ^@ NM_007137.3(ZNF81):c.*1216G>C http://identifiers.org/clinvar/314516 ^@ NM_013382.5(POMT2):c.*1805G>A http://identifiers.org/clinvar/368666 ^@ NM_001109878.1(TBX22):c.559G>A (p.Glu187Lys) http://identifiers.org/clinvar/315116 ^@ NM_177438.2(DICER1):c.-144G>C http://identifiers.org/clinvar/315266 ^@ NM_139057.3(ADAMTS17):c.2590C>T (p.Arg864Trp) http://identifiers.org/clinvar/315316 ^@ NM_139057.3(ADAMTS17):c.552G>C (p.Trp184Cys) http://identifiers.org/clinvar/315566 ^@ NM_133647.1(SLC12A6):c.*2523C>T http://identifiers.org/clinvar/325499 ^@ NM_001077620.2(PRCD):c.*1397A>G http://identifiers.org/clinvar/325599 ^@ NM_006640.4(SEPT9):c.*789G>A http://identifiers.org/clinvar/316166 ^@ NM_014080.4(DUOX2):c.2394G>A (p.Val798=) http://identifiers.org/clinvar/325800 ^@ NM_000152.4(GAA):c.*98A>T http://identifiers.org/clinvar/371971 ^@ NM_024675.3(PALB2):c.3256delC (p.Arg1086Glufs) http://identifiers.org/clinvar/371921 ^@ NM_002878.3(RAD51D):c.85delG (p.Val29Trpfs) http://identifiers.org/clinvar/371821 ^@ NM_007294.3(BRCA1):c.*1286C>T http://identifiers.org/clinvar/371871 ^@ NM_000455.4(STK11):c.920+29G>A http://identifiers.org/clinvar/372021 ^@ NM_001256849.1(POLD1):c.1686+15C>T http://identifiers.org/clinvar/372071 ^@ NM_001256849.1(POLD1):c.2155-8C>T http://identifiers.org/clinvar/372121 ^@ NM_000527.4:c.>15-kb del http://identifiers.org/clinvar/372195 ^@ NM_004544.3(NDUFA10):c.384_385insAAT (p.Ser128_Tyr129insAsn) http://identifiers.org/clinvar/372253 ^@ NM_024120.4(NDUFAF5):c.749G>T (p.Gly250Val) http://identifiers.org/clinvar/373816 ^@ NM_000016.5(ACADM):c.1159G>C (p.Val387Leu) http://identifiers.org/clinvar/372771 ^@ NM_004004.5(GJB2):c.146C>T (p.Ala49Val) http://identifiers.org/clinvar/372721 ^@ NM_152594.2(SPRED1):c.1048_1060delGGAAAATGTCAGG (p.Gly350Metfs) http://identifiers.org/clinvar/372307 ^@ NM_000049.2(ASPA):c.427A>T (p.Ile143Phe) http://identifiers.org/clinvar/373766 ^@ NM_033517.1(SHANK3):c.2613C>G (p.Tyr871Ter) http://identifiers.org/clinvar/373866 ^@ NG_005905.2:g.(147057_150288)_(172307_?)del http://identifiers.org/clinvar/373919 ^@ NM_020451.2(SELENON):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/374019 ^@ NM_000523.3(HOXD13):c.820C>T (p.Arg274Ter) http://identifiers.org/clinvar/374069 ^@ NM_001165928.3(DAG1):c.932G>A (p.Arg311Gln) http://identifiers.org/clinvar/374169 ^@ NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) http://identifiers.org/clinvar/374119 ^@ NM_000296.3(PKD1):c.4846G>T (p.Glu1616Ter) http://identifiers.org/clinvar/373969 ^@ NM_006306.3(SMC1A):c.2981A>G (p.Gln994Arg) http://identifiers.org/clinvar/374223 ^@ NM_003165.3(STXBP1):c.1082C>T (p.Thr361Ile) http://identifiers.org/clinvar/374273 ^@ NM_013275.5(ANKRD11):c.3122C>A (p.Ser1041Ter) http://identifiers.org/clinvar/374343 ^@ NM_000271.4(NPC1):c.2747A>G (p.Asn916Ser) http://identifiers.org/clinvar/374409 ^@ NC_000023.10:g.135549274_136126345dup577072 http://identifiers.org/clinvar/374461 ^@ NM_181882.2(PRX):c.1441G>T (p.Val481Leu) http://identifiers.org/clinvar/374511 ^@ NM_000260.3(MYO7A):c.3602G>A (p.Cys1201Tyr) http://identifiers.org/clinvar/374561 ^@ NM_001278074.1(COL5A1):c.2382C>T (p.Val794=) http://identifiers.org/clinvar/374611 ^@ NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) http://identifiers.org/clinvar/374661 ^@ NM_012431.2(SEMA3E):c.2220A>G (p.Lys740=) http://identifiers.org/clinvar/374711 ^@ NM_000414.3(HSD17B4):c.2179_2180delCA (p.Gln727Aspfs) http://identifiers.org/clinvar/374761 ^@ NM_006920.4(SCN1A):c.4549-3C>T http://identifiers.org/clinvar/374821 ^@ NM_000141.4(FGFR2):c.1645A>C (p.Asn549His) http://identifiers.org/clinvar/374871 ^@ NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) http://identifiers.org/clinvar/374938 ^@ NM_000038.5(APC):c.2723C>G (p.Ser908Cys) http://identifiers.org/clinvar/374989 ^@ NM_138393.2(REEP6):c.404T>C (p.Leu135Pro) http://identifiers.org/clinvar/375269 ^@ NM_005765.2(ATP6AP2):c.168+6T>A http://identifiers.org/clinvar/382524 ^@ NM_000179.2(MSH6):c.628-9G>A http://identifiers.org/clinvar/386617 ^@ NM_033109.4(PNPT1):c.429A>G (p.Pro143=) http://identifiers.org/clinvar/391895 ^@ NM_015120.4(ALMS1):c.139G>A (p.Val47Met) http://identifiers.org/clinvar/392884 ^@ NM_015120.4(ALMS1):c.6527C>T (p.Ala2176Val) http://identifiers.org/clinvar/388806 ^@ NM_002222.5(ITPR1):c.279C>T (p.His93=) http://identifiers.org/clinvar/390895 ^@ NM_000158.3(GBE1):c.313+15G>A http://identifiers.org/clinvar/386167 ^@ NM_024582.4(FAT4):c.3417T>C (p.Phe1139=) http://identifiers.org/clinvar/380481 ^@ NM_001457.3(FLNB):c.4222+8A>G http://identifiers.org/clinvar/386417 ^@ NM_000038.5(APC):c.-30569A>G http://identifiers.org/clinvar/377470 ^@ NM_001148.4(ANK2):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/391645 ^@ NM_032446.2(MEGF10):c.917+6G>T http://identifiers.org/clinvar/380933 ^@ NM_024582.4(FAT4):c.8476G>A (p.Asp2826Asn) http://identifiers.org/clinvar/380882 ^@ NM_024582.4(FAT4):c.3769C>G (p.Gln1257Glu) http://identifiers.org/clinvar/384377 ^@ NM_020117.10(LARS):c.1731T>C (p.Tyr577=) http://identifiers.org/clinvar/384227 ^@ NM_006859.3(LIAS):c.393+4G>A http://identifiers.org/clinvar/391045 ^@ NM_006005.3(WFS1):c.1740G>A (p.Val580=) http://identifiers.org/clinvar/380030 ^@ NM_002887.3(RARS):c.7G>A (p.Val3Ile) http://identifiers.org/clinvar/386717 ^@ NM_001167734.1(VARS2):c.1221C>T (p.Ile407=) http://identifiers.org/clinvar/380983 ^@ NM_002397.4(MEF2C):c.615G>A (p.Thr205=) http://identifiers.org/clinvar/388956 ^@ NM_003900.4(SQSTM1):c.756C>T (p.Gly252=) http://identifiers.org/clinvar/389406 ^@ NM_001167734.1(VARS2):c.729C>T (p.Ala243=) http://identifiers.org/clinvar/383827 ^@ NM_001458.4(FLNC):c.600C>T (p.Pro200=) http://identifiers.org/clinvar/393084 ^@ NM_001868.3(CPA1):c.657C>G (p.Ile219Met) http://identifiers.org/clinvar/390795 ^@ NM_005045.3(RELN):c.6579G>A (p.Lys2193=) http://identifiers.org/clinvar/380531 ^@ NM_006348.3(COG5):c.632-17G>A http://identifiers.org/clinvar/383025 ^@ NM_020408.5(LYRM4):c.207+18T>C http://identifiers.org/clinvar/383526 ^@ NM_006005.3(WFS1):c.1761G>C (p.Arg587=) http://identifiers.org/clinvar/380280 ^@ NM_004415.3(DSP):c.1045-8T>C http://identifiers.org/clinvar/380731 ^@ NM_004415.3(DSP):c.3729A>G (p.Ser1243=) http://identifiers.org/clinvar/381233 ^@ NM_000038.5(APC):c.6903A>G (p.Arg2301=) http://identifiers.org/clinvar/388556 ^@ NM_005431.1(XRCC2):c.-29A>G http://identifiers.org/clinvar/387017 ^@ NM_001458.4(FLNC):c.7990+9C>T http://identifiers.org/clinvar/391245 ^@ NM_000501.3(ELN):c.644-8C>T http://identifiers.org/clinvar/386367 ^@ NM_000445.4(PLEC):c.11620G>A (p.Val3874Met) http://identifiers.org/clinvar/386817 ^@ NM_020732.3(ARID1B):c.1685T>A (p.Ile562Asn) http://identifiers.org/clinvar/390845 ^@ NM_004408.3(DNM1):c.1558-14C>T http://identifiers.org/clinvar/388106 ^@ NM_007327.3(GRIN1):c.2589+6G>T http://identifiers.org/clinvar/388456 ^@ NM_001130438.2(SPTAN1):c.1550G>C (p.Ser517Thr) http://identifiers.org/clinvar/387067 ^@ NM_020745.3(AARS2):c.966C>T (p.Arg322=) http://identifiers.org/clinvar/389006 ^@ NM_000368.4(TSC1):c.-80-5C>T http://identifiers.org/clinvar/381083 ^@ NM_000136.2(FANCC):c.345G>A (p.Gln115=) http://identifiers.org/clinvar/383676 ^@ NM_020822.2(KCNT1):c.3027+18C>T http://identifiers.org/clinvar/391195 ^@ NM_006393.2(NEBL):c.2518+10C>T http://identifiers.org/clinvar/382925 ^@ NM_002291.2(LAMB1):c.3141C>T (p.Cys1047=) http://identifiers.org/clinvar/133159 ^@ NM_000540.2(RYR1):c.6488G>C (p.Arg2163Pro) http://identifiers.org/clinvar/133285 ^@ NM_000546.5(TP53):c.462C>T (p.Gly154=) http://identifiers.org/clinvar/133351 ^@ NM_001300.5(KLF6):c.676+61C>T http://identifiers.org/clinvar/133401 ^@ NM_003820.3(TNFRSF14):c.305-462G>T http://identifiers.org/clinvar/133451 ^@ NM_007313.2(ABL1):c.865G>T (p.Val289Leu) http://identifiers.org/clinvar/133501 ^@ NM_152424.3(AMER1):c.85G>A (p.Ala29Thr) http://identifiers.org/clinvar/133552 ^@ NM_006015.4(ARID1A):c.5717G>A (p.Arg1906Gln) http://identifiers.org/clinvar/133602 ^@ NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) http://identifiers.org/clinvar/133652 ^@ NM_000489.4(ATRX):c.3641A>T (p.Asn1214Ile) http://identifiers.org/clinvar/133702 ^@ NM_000057.3(BLM):c.3637G>A (p.Glu1213Lys) http://identifiers.org/clinvar/133756 ^@ NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) http://identifiers.org/clinvar/133806 ^@ NM_032415.5(CARD11):c.1262T>C (p.Met421Thr) http://identifiers.org/clinvar/133856 ^@ NM_015083.2(CDK12):c.2964C>T (p.Phe988=) http://identifiers.org/clinvar/133906 ^@ NM_015125.4(CIC):c.2956C>G (p.Leu986Val) http://identifiers.org/clinvar/133956 ^@ NM_015247.2(CYLD):c.344A>G (p.Asn115Ser) http://identifiers.org/clinvar/134006 ^@ NM_001077706.2(ECT2L):c.272C>T (p.Ser91Phe) http://identifiers.org/clinvar/134058 ^@ NM_001429.3(EP300):c.6504G>A (p.Met2168Ile) http://identifiers.org/clinvar/134108 ^@ NM_000400.3(ERCC2):c.81_82delGCinsTT (p.Glu27_Leu28delinsAspPhe) http://identifiers.org/clinvar/134158 ^@ NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr) http://identifiers.org/clinvar/134208 ^@ NM_207122.1(EXT2):c.520A>C (p.Met174Leu) http://identifiers.org/clinvar/134258 ^@ NM_000135.2(FANCA):c.2567T>C (p.Leu856Ser) http://identifiers.org/clinvar/134309 ^@ NM_001243744.1(FANCC):c.1361G>A (p.Gly454Asp) http://identifiers.org/clinvar/134360 ^@ NM_004629.1(FANCG):c.1157C>G (p.Pro386Arg) http://identifiers.org/clinvar/134410 ^@ NM_000142.4(FGFR3):c.1349C>T (p.Thr450Met) http://identifiers.org/clinvar/134460 ^@ NM_003902.4(FUBP1):c.243A>C (p.Gln81His) http://identifiers.org/clinvar/134510 ^@ NM_000545.6(HNF1A):c.716C>T (p.Ala239Val) http://identifiers.org/clinvar/134560 ^@ NM_004972.3(JAK2):c.721A>C (p.Ser241Arg) http://identifiers.org/clinvar/134610 ^@ NM_002253.2(KDR):c.170G>C (p.Arg57Thr) http://identifiers.org/clinvar/136301 ^@ NM_020247.4(COQ8A):c.948C>T (p.Leu316=) http://identifiers.org/clinvar/136352 ^@ NM_000032.4(ALAS2):c.828C>T (p.Cys276=) http://identifiers.org/clinvar/186743 ^@ NM_001042492.2(NF1):c.7387_7389delCTT (p.Leu2463del) http://identifiers.org/clinvar/185891 ^@ NM_001042492.2(NF1):c.7442G>T (p.Gly2481Val) http://identifiers.org/clinvar/184602 ^@ NM_001042492.2(NF1):c.7998C>T (p.Asn2666=) http://identifiers.org/clinvar/184302 ^@ NM_001042492.2(NF1):c.8394C>T (p.Asn2798=) http://identifiers.org/clinvar/186491 ^@ NM_002878.3(RAD51D):c.593G>T (p.Gly198Val) http://identifiers.org/clinvar/183951 ^@ NM_007294.3(BRCA1):c.5572A>C (p.Ile1858Leu) http://identifiers.org/clinvar/186693 ^@ NM_007294.3(BRCA1):c.4379delG (p.Ser1460Ilefs) http://identifiers.org/clinvar/187243 ^@ NM_007294.3(BRCA1):c.3901A>G (p.Ser1301Gly) http://identifiers.org/clinvar/184402 ^@ NM_007294.3(BRCA1):c.2883C>T (p.Asn961=) http://identifiers.org/clinvar/184852 ^@ NM_007294.3(BRCA1):c.2569T>C (p.Leu857=) http://identifiers.org/clinvar/187093 ^@ NM_058216.2(RAD51C):c.240G>A (p.Glu80=) http://identifiers.org/clinvar/186893 ^@ NM_058216.2(RAD51C):c.905G>T (p.Gly302Val) http://identifiers.org/clinvar/186793 ^@ NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) http://identifiers.org/clinvar/186643 ^@ NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) http://identifiers.org/clinvar/183901 ^@ NM_000546.5(TP53):c.147T>C (p.Asp49=) http://identifiers.org/clinvar/187443 ^@ NM_005359.5(SMAD4):c.599T>C (p.Leu200Pro) http://identifiers.org/clinvar/183751 ^@ NM_005359.5(SMAD4):c.852A>G (p.Gln284=) http://identifiers.org/clinvar/184352 ^@ NM_000455.4(STK11):c.462C>T (p.His154=) http://identifiers.org/clinvar/187393 ^@ NM_007194.3(CHEK2):c.1052A>G (p.Glu351Gly) http://identifiers.org/clinvar/187643 ^@ NM_007194.3(CHEK2):c.278G>A (p.Trp93Ter) http://identifiers.org/clinvar/188377 ^@ NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr) http://identifiers.org/clinvar/188685 ^@ NM_001001430.2(TNNT2):c.423G>C (p.Arg141=) http://identifiers.org/clinvar/188585 ^@ NM_000256.3(MYBPC3):c.3547T>C (p.Phe1183Leu) http://identifiers.org/clinvar/188535 ^@ NM_000256.3(MYBPC3):c.779delT (p.Met260Argfs) http://identifiers.org/clinvar/188435 ^@ NM_000059.3(BRCA2):c.6777_6778delTG (p.Asn2259Lysfs) http://identifiers.org/clinvar/188635 ^@ NM_000257.3(MYH7):c.4353+42G>A http://identifiers.org/clinvar/188485 ^@ NM_000152.4(GAA):c.2459C>T (p.Ala820Val) http://identifiers.org/clinvar/188986 ^@ NM_000030.2(AGXT):c.1049G>A (p.Gly350Asp) http://identifiers.org/clinvar/188735 ^@ NM_000187.3(HGD):c.1336T>C (p.Ter446Arg) http://identifiers.org/clinvar/188835 ^@ NM_000441.1(SLC26A4):c.1919G>A (p.Trp640Ter) http://identifiers.org/clinvar/188886 ^@ NM_000053.3(ATP7B):c.3263T>A (p.Leu1088Ter) http://identifiers.org/clinvar/189037 ^@ NM_000053.3(ATP7B):c.254G>T (p.Gly85Val) http://identifiers.org/clinvar/189187 ^@ NM_000382.2(ALDH3A2):c.901_903delGCTinsCC (p.Ala301Profs) http://identifiers.org/clinvar/188785 ^@ NM_000152.4(GAA):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/188936 ^@ NM_000152.4(GAA):c.1827delC (p.Tyr609Terfs) http://identifiers.org/clinvar/189087 ^@ NM_000017.3(ACADS):c.409C>T (p.Gln137Ter) http://identifiers.org/clinvar/189137 ^@ NM_000500.7:c.*28699080dupT http://identifiers.org/clinvar/189254 ^@ NM_002240.4(KCNJ6):c.455_457delCCA (p.Thr152del) http://identifiers.org/clinvar/189307 ^@ NM_174936.3(PCSK9):c.449_450delTT (p.Phe150Cysfs) http://identifiers.org/clinvar/189389 ^@ NM_130797.3(DPP6):c.1153A>C (p.Met385Leu) http://identifiers.org/clinvar/189527 ^@ NM_000314.6(PTEN):c.-691C>T http://identifiers.org/clinvar/189455 ^@ NM_000314.6(PTEN):c.-28C>T http://identifiers.org/clinvar/189677 ^@ NM_004992.3(MECP2):c.(?_-226)_26+?del http://identifiers.org/clinvar/189577 ^@ NM_003159.2(CDKL5):c.-253_2276+?del http://identifiers.org/clinvar/189727 ^@ NM_004992.3(MECP2):c.849_1236del388 (p.Lys284Alafs) http://identifiers.org/clinvar/189627 ^@ NM_004992.3(MECP2):c.431A>G (p.Lys144Arg) http://identifiers.org/clinvar/189861 ^@ NM_001165963.1(SCN1A):c.3637C>T (p.Arg1213Ter) http://identifiers.org/clinvar/227662 ^@ NM_017433.4(MYO3A):c.1029A>G (p.Leu343=) http://identifiers.org/clinvar/229302 ^@ NM_005422.2(TECTA):c.6089T>C (p.Ile2030Thr) http://identifiers.org/clinvar/229602 ^@ NM_153676.3(USH1C):c.2192G>A (p.Arg731Gln) http://identifiers.org/clinvar/227762 ^@ NM_001277269.1(OTOG):c.1321C>T (p.Arg441Trp) http://identifiers.org/clinvar/227562 ^@ NM_000256.3(MYBPC3):c.1308C>T (p.Cys436=) http://identifiers.org/clinvar/227812 ^@ NM_173591.3(OTOGL):c.1788G>T (p.Gln596His) http://identifiers.org/clinvar/227963 ^@ NM_139276.2(STAT3):c.1366-9C>T http://identifiers.org/clinvar/227612 ^@ NM_002473.5(MYH9):c.4344+10C>T http://identifiers.org/clinvar/229352 ^@ NM_001039141.2(TRIOBP):c.111C>G (p.Tyr37Ter) http://identifiers.org/clinvar/234296 ^@ NM_004895.4(NLRP3):c.634G>A (p.Asp212Asn) http://identifiers.org/clinvar/234820 ^@ NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) http://identifiers.org/clinvar/234468 ^@ NM_000179.2(MSH6):c.3076G>C (p.Asp1026His) http://identifiers.org/clinvar/234620 ^@ NM_000314.6(PTEN):c.492+2T>C http://identifiers.org/clinvar/234519 ^@ NM_014365.2(HSPB8):c.32A>G (p.His11Arg) http://identifiers.org/clinvar/234348 ^@ NM_000243.2(MEFV):c.233A>T (p.Asn78Ile) http://identifiers.org/clinvar/234720 ^@ NM_032043.2(BRIP1):c.2617A>T (p.Thr873Ser) http://identifiers.org/clinvar/234570 ^@ NM_032043.2(BRIP1):c.2119C>T (p.Arg707Cys) http://identifiers.org/clinvar/234770 ^@ NM_004655.3(AXIN2):c.2405+4A>G http://identifiers.org/clinvar/234418 ^@ NM_000455.4(STK11):c.920+12C>T http://identifiers.org/clinvar/231943 ^@ NM_007194.3(CHEK2):c.1420C>A (p.Arg474Ser) http://identifiers.org/clinvar/234670 ^@ NM_007194.3(CHEK2):c.916G>T (p.Gly306Trp) http://identifiers.org/clinvar/234871 ^@ NM_000166.5(GJB1):c.151T>C (p.Phe51Leu) http://identifiers.org/clinvar/233094 ^@ NM_001128425.1(MUTYH):c.453_458dupATGGAT (p.Trp152_Met153insIleTrp) http://identifiers.org/clinvar/231593 ^@ NM_001128425.1(MUTYH):c.-4G>A http://identifiers.org/clinvar/229754 ^@ NM_000465.3(BARD1):c.1501G>A (p.Ala501Thr) http://identifiers.org/clinvar/234086 ^@ NM_000465.3(BARD1):c.1340T>C (p.Leu447Pro) http://identifiers.org/clinvar/233144 ^@ NM_000251.2(MSH2):c.-68-90G>T http://identifiers.org/clinvar/230454 ^@ NM_000179.2(MSH6):c.754T>G (p.Ser252Ala) http://identifiers.org/clinvar/231493 ^@ NM_000179.2(MSH6):c.1192G>A (p.Val398Met) http://identifiers.org/clinvar/232043 ^@ NM_000179.2(MSH6):c.4026G>C (p.Arg1342Ser) http://identifiers.org/clinvar/230154 ^@ NM_000038.5(APC):c.221-1G>C http://identifiers.org/clinvar/232393 ^@ NM_000038.5(APC):c.2557G>A (p.Glu853Lys) http://identifiers.org/clinvar/263879 ^@ NM_030777.3(SLC2A10):c.781G>A (p.Val261Ile) http://identifiers.org/clinvar/264229 ^@ NM_004006.2(DMD):c.2884C>G (p.Leu962Val) http://identifiers.org/clinvar/264635 ^@ NM_176787.4(PIGN):c.2340T>A (p.Tyr780Ter) http://identifiers.org/clinvar/264699 ^@ NM_145331.2(MAP3K7):c.208G>C (p.Glu70Gln) http://identifiers.org/clinvar/264750 ^@ NM_001242896.1(DEPDC5):c.268G>A (p.Val90Ile) http://identifiers.org/clinvar/264955 ^@ NM_000059.3(BRCA2):c.-162G>A http://identifiers.org/clinvar/264905 ^@ NM_000059.3(BRCA2):c.316+2287G>C http://identifiers.org/clinvar/264855 ^@ NM_007294.3(BRCA1):c.4185+3033A>G http://identifiers.org/clinvar/264805 ^@ NM_007294.3(BRCA1):c.441+1383T>A http://identifiers.org/clinvar/265007 ^@ NM_000350.2(ABCA4):c.294C>G (p.Asn98Lys) http://identifiers.org/clinvar/265515 ^@ NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) http://identifiers.org/clinvar/265365 ^@ NM_000465.3(BARD1):c.2002-2A>C http://identifiers.org/clinvar/265415 ^@ NM_000038.5(APC):c.573T>A (p.Tyr191Ter) http://identifiers.org/clinvar/265315 ^@ NM_000051.3(ATM):c.6814G>A (p.Glu2272Lys) http://identifiers.org/clinvar/265566 ^@ NM_000051.3(ATM):c.8288delG (p.Arg2763Glnfs) http://identifiers.org/clinvar/265264 ^@ NM_000192.3(TBX5):c.755G>C (p.Ser252Thr) http://identifiers.org/clinvar/265666 ^@ NM_020297.3(ABCC9):c.3460C>G (p.Arg1154Gly) http://identifiers.org/clinvar/265616 ^@ NM_014444.4(TUBGCP4):c.726delCinsAA (p.Leu243Thrfs) http://identifiers.org/clinvar/265160 ^@ NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) http://identifiers.org/clinvar/265060 ^@ NM_000061.2(BTK):c.1760T>C (p.Met587Thr) http://identifiers.org/clinvar/265212 ^@ NM_021140.3(KDM6A):c.2326_2329delGACA (p.Asp776Ilefs) http://identifiers.org/clinvar/265110 ^@ NM_006579.2(EBP):c.439C>T (p.Arg147Cys) http://identifiers.org/clinvar/265465 ^@ NM_005183.3(CACNA1F):c.148C>T (p.Arg50Ter) http://identifiers.org/clinvar/265748 ^@ NM_024818.4(UBA5):c.181C>T (p.Arg61Ter) http://identifiers.org/clinvar/265850 ^@ NM_001232.3(CASQ2):c.539A>G (p.Lys180Arg) http://identifiers.org/clinvar/265905 ^@ NM_000527.4(LDLR):c.1846-?_2311+?dup http://identifiers.org/clinvar/265958 ^@ NM_000050.4(ASS1):c.773+49C>T http://identifiers.org/clinvar/266826 ^@ NM_000059.3(BRCA2):c.470delA (p.Lys157Serfs) http://identifiers.org/clinvar/266676 ^@ NM_000059.3(BRCA2):c.2095_2096delCA (p.Gln699Valfs) http://identifiers.org/clinvar/266726 ^@ NM_000059.3(BRCA2):c.2896dupA (p.Thr966Asnfs) http://identifiers.org/clinvar/266776 ^@ NM_000059.3(BRCA2):c.3829_3830delAA (p.Asn1277Serfs) http://identifiers.org/clinvar/266876 ^@ NM_000059.3(BRCA2):c.5442_5445dupGACT (p.Ser1816Aspfs) http://identifiers.org/clinvar/266926 ^@ NM_000059.3(BRCA2):c.6137_6138delCA (p.Ser2046Leufs) http://identifiers.org/clinvar/266976 ^@ NM_000059.3(BRCA2):c.6960delG (p.Leu2320Phefs) http://identifiers.org/clinvar/267026 ^@ NM_000059.3(BRCA2):c.7631delG (p.Gly2544Alafs) http://identifiers.org/clinvar/267126 ^@ NM_000059.3(BRCA2):c.8986_8987insAGAT (p.Leu2996Terfs) http://identifiers.org/clinvar/267176 ^@ NM_000059.3(BRCA2):c.9871delT (p.Ser3291Leufs) http://identifiers.org/clinvar/267246 ^@ NM_015247.2(CYLD):c.2138_2139dupAC (p.Phe714Thrfs) http://identifiers.org/clinvar/267321 ^@ NM_000546.5(TP53):c.796_808delGGACGGAACAGCT (p.Gly266Leufs) http://identifiers.org/clinvar/267394 ^@ c.6095G>A http://identifiers.org/clinvar/267477 ^@ NC_000016.9:g.(?_88755312)_(89584412_?)del http://identifiers.org/clinvar/267633 ^@ NM_000059.3(BRCA2):c.-227-?_7007+?del http://identifiers.org/clinvar/267683 ^@ NM_000059.3(BRCA2):c.7436-2A>G http://identifiers.org/clinvar/267533 ^@ NM_007294.3(BRCA1):c.4358-?_4484+?dup http://identifiers.org/clinvar/267583 ^@ NM_007294.3(BRCA1):c.5194-1730_5277+1996delins268 http://identifiers.org/clinvar/267733 ^@ NM_003865.2(HESX1):c.385G>A (p.Val129Ile) http://identifiers.org/clinvar/267812 ^@ 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn http://identifiers.org/clinvar/267863 ^@ 46;Y;inv(X)(q13q24)mat http://identifiers.org/clinvar/267913 ^@ 46;XX;t(2;7;8;3;16)(q24.2;q31.32;q24.11;q26.2;q22) http://identifiers.org/clinvar/267963 ^@ 46;XY;t(5;9)(q11.1;q22.33) http://identifiers.org/clinvar/268013 ^@ 46;XX;inv(6)(p11.1q21)dn http://identifiers.org/clinvar/268066 ^@ NC_000002.11:g.(?_124771097)_(125341075_?)dup http://identifiers.org/clinvar/268129 ^@ NM_000121.3(EPOR):c.1310G>A (p.Arg437His) http://identifiers.org/clinvar/293723 ^@ NM_000261.1(MYOC):c.114G>A (p.Arg38=) http://identifiers.org/clinvar/293873 ^@ NM_033343.3(LHX4):c.*26C>T http://identifiers.org/clinvar/294023 ^@ NM_005562.2(LAMC2):c.3503C>A (p.Ala1168Asp) http://identifiers.org/clinvar/294073 ^@ NM_000433.3(NCF2):c.1552G>C (p.Asp518His) http://identifiers.org/clinvar/294123 ^@ NM_031935.2(HMCN1):c.2436A>C (p.Leu812Phe) http://identifiers.org/clinvar/294173 ^@ NM_031935.2(HMCN1):c.6435G>A (p.Leu2145=) http://identifiers.org/clinvar/294223 ^@ NM_031935.2(HMCN1):c.10982G>C (p.Arg3661Pro) http://identifiers.org/clinvar/294323 ^@ NM_031935.2(HMCN1):c.*674C>T http://identifiers.org/clinvar/294373 ^@ NM_003748.3(ALDH4A1):c.1252G>C (p.Gly418Arg) http://identifiers.org/clinvar/294473 ^@ NM_000186.3(CFH):c.-195T>C http://identifiers.org/clinvar/294523 ^@ NM_000186.3(CFH):c.3207T>C (p.Ser1069=) http://identifiers.org/clinvar/293773 ^@ NM_022089.3(ATP13A2):c.2952G>A (p.Ala984=) http://identifiers.org/clinvar/294873 ^@ NM_001005337.2(PKP1):c.*1716C>T http://identifiers.org/clinvar/294823 ^@ NM_001005337.2(PKP1):c.1504-15G>T http://identifiers.org/clinvar/293823 ^@ NM_018122.4(DARS2):c.1063T>A (p.Phe355Ile) http://identifiers.org/clinvar/294973 ^@ NM_002389.4(CD46):c.946+9A>G http://identifiers.org/clinvar/295023 ^@ NM_032409.2(PINK1):c.*534A>G http://identifiers.org/clinvar/336168 ^@ NM_133259.3(LRPPRC):c.1262-12T>C http://identifiers.org/clinvar/336218 ^@ NM_001430.4(EPAS1):c.-472G>A http://identifiers.org/clinvar/336268 ^@ NM_001430.4(EPAS1):c.1833C>T (p.Ala611=) http://identifiers.org/clinvar/343465 ^@ NM_000532.4(PCCB):c.554C>T (p.Thr185Met) http://identifiers.org/clinvar/336425 ^@ NM_000251.2(MSH2):c.209C>A (p.Ala70Glu) http://identifiers.org/clinvar/336118 ^@ NM_133259.3(LRPPRC):c.*1564G>A http://identifiers.org/clinvar/344954 ^@ NM_001106.3(ACVR2B):c.*2025G>C http://identifiers.org/clinvar/345054 ^@ NM_001106.3(ACVR2B):c.*9443_*9469del27insT http://identifiers.org/clinvar/345104 ^@ NM_198056.2(SCN5A):c.*290G>A http://identifiers.org/clinvar/345154 ^@ NM_017875.2(SLC25A38):c.*370C>T http://identifiers.org/clinvar/345204 ^@ NM_018075.4(ANO10):c.-102C>A http://identifiers.org/clinvar/336625 ^@ NM_001039348.2(EFEMP1):c.761-18_761-15dupTATA http://identifiers.org/clinvar/345254 ^@ NM_016006.4(ABHD5):c.*1934delA http://identifiers.org/clinvar/344454 ^@ NM_006580.3(CLDN16):c.*243C>T http://identifiers.org/clinvar/344504 ^@ NM_015560.2(OPA1):c.*1815T>C http://identifiers.org/clinvar/344554 ^@ NM_000461.4(THRB):c.*4595_*4596delAA http://identifiers.org/clinvar/345504 ^@ NM_024513.3(FYCO1):c.3234C>A (p.Asp1078Glu) http://identifiers.org/clinvar/337125 ^@ NM_013247.4(HTRA2):c.-136C>G http://identifiers.org/clinvar/345604 ^@ NM_002222.5(ITPR1):c.952-6C>T http://identifiers.org/clinvar/337175 ^@ NM_000821.6(GGCX):c.*4726A>C http://identifiers.org/clinvar/336975 ^@ NM_003494.3(DYSF):c.5411C>T (p.Thr1804Ile) http://identifiers.org/clinvar/345704 ^@ NM_015175.2(NBEAL2):c.*263C>T http://identifiers.org/clinvar/337275 ^@ NM_000821.6(GGCX):c.339C>T (p.Asp113=) http://identifiers.org/clinvar/344854 ^@ NM_006371.4(CRTAP):c.*2837G>T http://identifiers.org/clinvar/337225 ^@ NM_000821.6(GGCX):c.*1819A>C http://identifiers.org/clinvar/346004 ^@ NM_002292.3(LAMB2):c.1423C>T (p.Arg475Trp) http://identifiers.org/clinvar/346054 ^@ NM_144499.2(GNAT1):c.926G>C (p.Arg309Pro) http://identifiers.org/clinvar/337575 ^@ NM_020184.3(CNNM4):c.-90C>T http://identifiers.org/clinvar/345354 ^@ NM_020208.3(SLC6A20):c.*2563_*2565delCTT http://identifiers.org/clinvar/345404 ^@ NM_020208.3(SLC6A20):c.1086G>A (p.Ser362=) http://identifiers.org/clinvar/337625 ^@ NM_001079.3(ZAP70):c.-59T>C http://identifiers.org/clinvar/342315 ^@ NM_016247.3(IMPG2):c.*685_*726del42insGTGC http://identifiers.org/clinvar/345554 ^@ NM_147196.2(TMIE):c.*691G>A http://identifiers.org/clinvar/342415 ^@ NM_000551.3(VHL):c.*597G>A http://identifiers.org/clinvar/342465 ^@ NM_000551.3(VHL):c.*2140C>T http://identifiers.org/clinvar/346943 ^@ NM_177976.3(ARL6):c.536-4T>C http://identifiers.org/clinvar/342615 ^@ NM_020754.3(ARHGAP31):c.-390G>C http://identifiers.org/clinvar/345754 ^@ NM_002222.5(ITPR1):c.5991+11T>A http://identifiers.org/clinvar/347093 ^@ NM_005908.3(MANBA):c.1112+8A>C http://identifiers.org/clinvar/342665 ^@ NM_020754.3(ARHGAP31):c.3104C>T (p.Thr1035Ile) http://identifiers.org/clinvar/342865 ^@ NM_053025.3(MYLK):c.5703G>A (p.Thr1901=) http://identifiers.org/clinvar/346104 ^@ NM_004656.3(BAP1):c.*1064C>T http://identifiers.org/clinvar/347393 ^@ NM_003619.3(PRSS12):c.2088T>C (p.His696=) http://identifiers.org/clinvar/346204 ^@ NM_003392.4(WNT5A):c.*4356T>C http://identifiers.org/clinvar/347643 ^@ NM_172250.2(MMAA):c.*2378A>G http://identifiers.org/clinvar/343115 ^@ NM_032638.4(GATA2):c.*884A>T http://identifiers.org/clinvar/343215 ^@ NM_000174.4(GP9):c.-128C>T http://identifiers.org/clinvar/343065 ^@ NM_025265.3(TSEN2):c.-130T>C http://identifiers.org/clinvar/347743 ^@ NM_000901.4(NR3C2):c.-213G>A http://identifiers.org/clinvar/347793 ^@ NM_005141.4(FGB):c.*1372T>A http://identifiers.org/clinvar/343265 ^@ NM_052985.3(IFT122):c.3418+7C>T http://identifiers.org/clinvar/343365 ^@ NM_153240.4(NPHP3):c.*652_*653delGA http://identifiers.org/clinvar/347943 ^@ NM_000824.4(GLRB):c.*853T>C http://identifiers.org/clinvar/343515 ^@ NM_024334.2(TMEM43):c.*277C>T http://identifiers.org/clinvar/346893 ^@ NM_000313.3(PROS1):c.119G>T (p.Arg40Leu) http://identifiers.org/clinvar/353631 ^@ NM_002310.5(LIFR):c.346C>T (p.His116Tyr) http://identifiers.org/clinvar/358210 ^@ NM_183050.3(BCKDHB):c.*1892T>C http://identifiers.org/clinvar/353681 ^@ NM_000163.4(GHR):c.660G>T (p.Leu220Phe) http://identifiers.org/clinvar/358260 ^@ NM_014165.3(NDUFAF4):c.*690G>A http://identifiers.org/clinvar/354131 ^@ NM_000521.3(HEXB):c.670-14_670-13delAT http://identifiers.org/clinvar/358410 ^@ NM_005045.3(RELN):c.3009-10G>A http://identifiers.org/clinvar/362498 ^@ NM_005144.4(HR):c.2298G>A (p.Ala766=) http://identifiers.org/clinvar/358760 ^@ NM_012338.3(TSPAN12):c.*39C>T http://identifiers.org/clinvar/358860 ^@ NM_000883.3(IMPDH1):c.*597G>A http://identifiers.org/clinvar/362648 ^@ NM_006158.4(NEFL):c.-68T>A http://identifiers.org/clinvar/362798 ^@ NM_000553.4(WRN):c.839+25dupT http://identifiers.org/clinvar/363048 ^@ NM_000037.3(ANK1):c.617G>A (p.Gly206Glu) http://identifiers.org/clinvar/363098 ^@ NM_006749.4(SLC20A2):c.-288G>C http://identifiers.org/clinvar/363198 ^@ NM_005914.3(MCM4):c.-453T>C http://identifiers.org/clinvar/363248 ^@ NM_005914.3(MCM4):c.*507delA http://identifiers.org/clinvar/363498 ^@ NM_017780.3(CHD7):c.*731G>A http://identifiers.org/clinvar/363648 ^@ NM_000503.5(EYA1):c.1475+15G>A http://identifiers.org/clinvar/355421 ^@ NM_006208.2(ENPP1):c.*3615dupT http://identifiers.org/clinvar/355321 ^@ NM_000045.3(ARG1):c.944T>C (p.Ile315Thr) http://identifiers.org/clinvar/359949 ^@ NM_005522.4(HOXA1):c.*331C>A http://identifiers.org/clinvar/359999 ^@ NM_002047.3(GARS):c.-59C>T http://identifiers.org/clinvar/360049 ^@ NM_198428.2(BBS9):c.-429G>C http://identifiers.org/clinvar/355821 ^@ NM_033071.3(SYNE1):c.23122T>C (p.Leu7708=) http://identifiers.org/clinvar/355971 ^@ NM_032122.4(DTNBP1):c.489-12_489-8delTTTTT http://identifiers.org/clinvar/355721 ^@ NM_203395.2(IYD):c.*1714C>T http://identifiers.org/clinvar/356021 ^@ NM_004562.2(PRKN):c.7+4C>T http://identifiers.org/clinvar/360549 ^@ NM_000181.3(GUSB):c.1790-5dupT http://identifiers.org/clinvar/355771 ^@ NM_203395.2(IYD):c.*5208G>A http://identifiers.org/clinvar/356121 ^@ NM_000367.4(TPMT):c.-30T>A http://identifiers.org/clinvar/356171 ^@ NM_001080.3(ALDH5A1):c.*1485C>T http://identifiers.org/clinvar/360999 ^@ NM_014251.2(SLC25A13):c.*909C>G http://identifiers.org/clinvar/356321 ^@ NM_006929.4(SKIV2L):c.901C>T (p.Pro301Ser) http://identifiers.org/clinvar/303429 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACACACATATA http://identifiers.org/clinvar/303529 ^@ NM_016952.4(CDON):c.-61-9_-61-7delCTT http://identifiers.org/clinvar/303729 ^@ NM_000525.3(KCNJ11):c.*92C>T http://identifiers.org/clinvar/303829 ^@ NM_001909.4(CTSD):c.*140G>T http://identifiers.org/clinvar/298501 ^@ NM_021830.4(TWNK):c.1101C>T (p.Ile367=) http://identifiers.org/clinvar/298751 ^@ NM_000494.3(COL17A1):c.384T>C (p.Ser128=) http://identifiers.org/clinvar/312627 ^@ NM_001376.4(DYNC1H1):c.4331C>T (p.Ala1444Val) http://identifiers.org/clinvar/312677 ^@ NM_022489.3(INF2):c.144C>T (p.Val48=) http://identifiers.org/clinvar/312877 ^@ NM_002471.3(MYH6):c.1588G>A (p.Gly530Ser) http://identifiers.org/clinvar/313077 ^@ NM_021914.7(CFL2):c.*2233delT http://identifiers.org/clinvar/313127 ^@ NM_001079668.2(NKX2-1):c.*459_*460dupTT http://identifiers.org/clinvar/298701 ^@ NM_000494.3(COL17A1):c.2868T>A (p.Pro956=) http://identifiers.org/clinvar/313227 ^@ NM_020937.3(FANCM):c.5824G>A (p.Ala1942Thr) http://identifiers.org/clinvar/298801 ^@ NM_001134363.2(RBM20):c.3266C>G (p.Pro1089Arg) http://identifiers.org/clinvar/313427 ^@ NM_007374.2(SIX6):c.-149C>T http://identifiers.org/clinvar/313527 ^@ NM_182914.2(SYNE2):c.6736G>A (p.Gly2246Ser) http://identifiers.org/clinvar/298951 ^@ NM_004281.3(BAG3):c.-284G>C http://identifiers.org/clinvar/313627 ^@ NM_182914.2(SYNE2):c.16639G>A (p.Asp5547Asn) http://identifiers.org/clinvar/299001 ^@ NM_000141.4(FGFR2):c.1548G>A (p.Val516=) http://identifiers.org/clinvar/313677 ^@ NM_182914.2(SYNE2):c.*221T>C http://identifiers.org/clinvar/299051 ^@ NM_002775.4(HTRA1):c.879C>T (p.Thr293=) http://identifiers.org/clinvar/299601 ^@ NM_201590.2(CACNB2):c.*786_*789dupATTG http://identifiers.org/clinvar/299151 ^@ NM_001609.3(ACADSB):c.*3619T>C http://identifiers.org/clinvar/299351 ^@ NM_001081.3(CUBN):c.*134G>A http://identifiers.org/clinvar/314416 ^@ NM_017791.2(FLVCR2):c.953-15C>T http://identifiers.org/clinvar/314566 ^@ NM_013382.5(POMT2):c.-128C>T http://identifiers.org/clinvar/299651 ^@ NM_017433.4(MYO3A):c.1053+11_1053+12invCA http://identifiers.org/clinvar/314966 ^@ NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) http://identifiers.org/clinvar/300490 ^@ NM_022124.5(CDH23):c.*361C>A http://identifiers.org/clinvar/315516 ^@ NM_002420.5(TRPM1):c.2083G>C (p.Ala695Pro) http://identifiers.org/clinvar/300590 ^@ NM_004273.4(CHST3):c.*1006T>C http://identifiers.org/clinvar/315766 ^@ NM_152594.2(SPRED1):c.*3192G>A http://identifiers.org/clinvar/309633 ^@ NM_006121.3(KRT1):c.*275G>A http://identifiers.org/clinvar/309733 ^@ NM_015665.5(AAAS):c.843C>G (p.Pro281=) http://identifiers.org/clinvar/309883 ^@ NM_012064.3(MIP):c.*94T>G http://identifiers.org/clinvar/310033 ^@ NM_000552.4(VWF):c.8155+8C>T http://identifiers.org/clinvar/310183 ^@ NM_002076.3(GNS):c.*1456C>T http://identifiers.org/clinvar/310383 ^@ NM_173353.3(TPH2):c.540A>G (p.Pro180=) http://identifiers.org/clinvar/310483 ^@ NM_024685.3(BBS10):c.*498A>G http://identifiers.org/clinvar/310738 ^@ NM_018979.3(WNK1):c.1526T>C (p.Ile509Thr) http://identifiers.org/clinvar/310638 ^@ NM_025114.3(CEP290):c.-118C>G http://identifiers.org/clinvar/319218 ^@ NM_032575.2(GLIS2):c.1326C>T (p.Ala442=) http://identifiers.org/clinvar/312577 ^@ NM_005708.4(GPC6):c.*1297C>T http://identifiers.org/clinvar/312927 ^@ NM_006177.3(NRL):c.*834G>C http://identifiers.org/clinvar/313027 ^@ NM_025152.2(NUBPL):c.573G>A (p.Val191=) http://identifiers.org/clinvar/313277 ^@ NM_018139.2(DNAAF2):c.1687G>T (p.Ala563Ser) http://identifiers.org/clinvar/339165 ^@ NM_017671.4(FERMT1):c.*2227C>T http://identifiers.org/clinvar/339315 ^@ NM_001853.3(COL9A3):c.*163C>T http://identifiers.org/clinvar/321108 ^@ NM_020686.5(ABAT):c.*942C>T http://identifiers.org/clinvar/321058 ^@ NM_001127464.2(ZNF469):c.*845T>C http://identifiers.org/clinvar/339715 ^@ NM_172201.1(KCNE2):c.-80C>T http://identifiers.org/clinvar/321208 ^@ NM_000512.4(GALNS):c.121-4G>A http://identifiers.org/clinvar/321508 ^@ NM_000833.4(GRIN2A):c.*6452G>A http://identifiers.org/clinvar/312527 ^@ NM_052910.2(SLITRK1):c.-744dupA http://identifiers.org/clinvar/326750 ^@ NM_015559.2(SETBP1):c.3237T>C (p.Leu1079=) http://identifiers.org/clinvar/368366 ^@ NM_153380.3(ZNF41):c.1275A>T (p.Ala425=) http://identifiers.org/clinvar/327539 ^@ NM_005570.3(LMAN1):c.*2929T>C http://identifiers.org/clinvar/327639 ^@ NM_133459.3(CCBE1):c.*2372C>T http://identifiers.org/clinvar/368716 ^@ NM_153252.4(BRWD3):c.*1592G>C http://identifiers.org/clinvar/327789 ^@ NM_005786.5(TSHZ1):c.-117C>T http://identifiers.org/clinvar/338664 ^@ NM_000311.4(PRNP):c.*697A>G http://identifiers.org/clinvar/339065 ^@ NM_001001433.2(STX16):c.*436G>C http://identifiers.org/clinvar/339365 ^@ NM_025219.2(DNAJC5):c.*276C>T http://identifiers.org/clinvar/339515 ^@ NM_015192.3(PLCB1):c.3135C>A (p.Val1045=) http://identifiers.org/clinvar/339815 ^@ NM_001754.4(RUNX1):c.*3060T>C http://identifiers.org/clinvar/339915 ^@ NM_000411.6(HLCS):c.*3141_*3142dupAT http://identifiers.org/clinvar/339115 ^@ NM_207034.2(EDN3):c.-248G>A http://identifiers.org/clinvar/339215 ^@ NM_017671.4(FERMT1):c.1416G>A (p.Ser472=) http://identifiers.org/clinvar/339265 ^@ NM_001853.3(COL9A3):c.102_110delCGGCCCCCC (p.Pro39_Gly41del) http://identifiers.org/clinvar/339415 ^@ NM_025219.2(DNAJC5):c.*2912C>T http://identifiers.org/clinvar/339565 ^@ NM_000933.3(PLCB4):c.1611+12C>T http://identifiers.org/clinvar/339615 ^@ NM_000933.3(PLCB4):c.*1585dupT http://identifiers.org/clinvar/339765 ^@ NM_000219.5(KCNE1):c.*373A>G http://identifiers.org/clinvar/340015 ^@ NM_020639.2(RIPK4):c.1980C>T (p.Gly660=) http://identifiers.org/clinvar/389806 ^@ NM_005763.3(AASS):c.191G>A (p.Arg64Gln) http://identifiers.org/clinvar/387217 ^@ NM_001458.4(FLNC):c.2507C>A (p.Pro836Gln) http://identifiers.org/clinvar/383626 ^@ NM_020822.2(KCNT1):c.334+10G>A http://identifiers.org/clinvar/388906 ^@ NM_006415.3(SPTLC1):c.1402G>T (p.Ala468Ser) http://identifiers.org/clinvar/382725 ^@ NM_020822.2(KCNT1):c.3502+12C>T http://identifiers.org/clinvar/380782 ^@ NM_001101.3(ACTB):c.124-4C>T http://identifiers.org/clinvar/383075 ^@ NM_000051.3(ATM):c.6753C>T (p.Leu2251=) http://identifiers.org/clinvar/381133 ^@ NM_000051.3(ATM):c.9087T>G (p.Gly3029=) http://identifiers.org/clinvar/382775 ^@ NM_022124.5(CDH23):c.6453C>A (p.Thr2151=) http://identifiers.org/clinvar/388406 ^@ NM_014000.2(VCL):c.3259-5T>C http://identifiers.org/clinvar/391445 ^@ NM_001134363.2(RBM20):c.3677A>G (p.Lys1226Arg) http://identifiers.org/clinvar/380681 ^@ NM_014000.2(VCL):c.1074G>A (p.Gln358=) http://identifiers.org/clinvar/384427 ^@ NM_007175.6(ERLIN2):c.431T>C (p.Ile144Thr) http://identifiers.org/clinvar/384027 ^@ NM_014391.2(ANKRD1):c.175C>G (p.Gln59Glu) http://identifiers.org/clinvar/391845 ^@ NM_006231.3(POLE):c.4952+10G>A http://identifiers.org/clinvar/386267 ^@ NM_000051.3(ATM):c.7927+13T>A http://identifiers.org/clinvar/386867 ^@ NM_001130438.2(SPTAN1):c.5245G>A (p.Gly1749Arg) http://identifiers.org/clinvar/383276 ^@ NM_005002.4(NDUFA9):c.1005A>G (p.Leu335=) http://identifiers.org/clinvar/392045 ^@ NM_024426.4(WT1):c.676C>T (p.Pro226Ser) http://identifiers.org/clinvar/386967 ^@ NM_007171.3(POMT1):c.985C>T (p.Leu329=) http://identifiers.org/clinvar/381033 ^@ NM_021625.4(TRPV4):c.2088C>T (p.Ile696=) http://identifiers.org/clinvar/391595 ^@ NM_006231.3(POLE):c.5812-19G>A http://identifiers.org/clinvar/380230 ^@ NM_006231.3(POLE):c.2320-13A>G http://identifiers.org/clinvar/391695 ^@ NM_021625.4(TRPV4):c.*8A>C http://identifiers.org/clinvar/390995 ^@ NM_007327.3(GRIN1):c.1198-7C>T http://identifiers.org/clinvar/391795 ^@ NM_001160147.1(DDHD1):c.1911G>A (p.Ala637=) http://identifiers.org/clinvar/381283 ^@ NM_005888.3(SLC25A3):c.644+7A>G http://identifiers.org/clinvar/386517 ^@ NM_213649.1(SFXN4):c.750A>G (p.Leu250=) http://identifiers.org/clinvar/382173 ^@ NM_004281.3(BAG3):c.1593A>G (p.Ala531=) http://identifiers.org/clinvar/381183 ^@ NM_001013703.3(EIF2AK4):c.4174-17G>T http://identifiers.org/clinvar/382073 ^@ NM_002225.3(IVD):c.244-18G>A http://identifiers.org/clinvar/380832 ^@ NM_004984.2(KIF5A):c.446-18T>C http://identifiers.org/clinvar/390945 ^@ NM_144670.5(A2ML1):c.1050T>C (p.Phe350=) http://identifiers.org/clinvar/383777 ^@ NM_144670.5(A2ML1):c.2367G>A (p.Pro789=) http://identifiers.org/clinvar/391295 ^@ NM_001613.2(ACTA2):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/380180 ^@ NM_032374.4(APOPT1):c.390A>G (p.Leu130=) http://identifiers.org/clinvar/392984 ^@ NM_001376.4(DYNC1H1):c.8186G>A (p.Arg2729His) http://identifiers.org/clinvar/382023 ^@ NM_002474.2(MYH11):c.1503C>T (p.Arg501=) http://identifiers.org/clinvar/384578 ^@ NM_005050.3(ABCD4):c.1705C>T (p.Leu569=) http://identifiers.org/clinvar/388656 ^@ NM_000034.3(ALDOA):c.-88T>G http://identifiers.org/clinvar/380581 ^@ NM_002225.3(IVD):c.560-18C>T http://identifiers.org/clinvar/391345 ^@ NM_014080.4(DUOX2):c.3416-2A>C http://identifiers.org/clinvar/383175 ^@ NM_000548.4(TSC2):c.1303C>T (p.His435Tyr) http://identifiers.org/clinvar/382625 ^@ NM_017775.3(TTC19):c.87C>T (p.Leu29=) http://identifiers.org/clinvar/47432 ^@ NM_133378.4(TTN):c.76559G>A (p.Ser25520Asn) http://identifiers.org/clinvar/47482 ^@ NM_133378.4(TTN):c.80806G>A (p.Asp26936Asn) http://identifiers.org/clinvar/47532 ^@ NM_133378.4(TTN):c.85683C>T (p.Ser28561=) http://identifiers.org/clinvar/47582 ^@ NM_001256850.1(TTN):c.92334T>C (p.Ile30778=) http://identifiers.org/clinvar/47632 ^@ NM_001256850.1(TTN):c.96141T>C (p.Asp32047=) http://identifiers.org/clinvar/47682 ^@ NM_133378.4(TTN):c.97289C>A (p.Thr32430Asn) http://identifiers.org/clinvar/47732 ^@ NM_133379.4(TTN):c.11075G>C (p.Ser3692Thr) http://identifiers.org/clinvar/47782 ^@ NM_001256850.1(TTN):c.10361-5203G>A http://identifiers.org/clinvar/47832 ^@ NM_001256850.1(TTN):c.12035G>A (p.Arg4012Lys) http://identifiers.org/clinvar/47882 ^@ NM_139319.2(SLC17A8):c.171G>A (p.Thr57=) http://identifiers.org/clinvar/47932 ^@ NM_144612.6(LOXHD1):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/47982 ^@ NM_005709.3(USH1C):c.1285-7619C>T http://identifiers.org/clinvar/48034 ^@ NM_005572.3(LMNA):c.1242C>T (p.Ser414=) http://identifiers.org/clinvar/48084 ^@ NM_170707.3(LMNA):c.799T>C (p.Tyr267His) http://identifiers.org/clinvar/48134 ^@ NM_173477.4(USH1G):c.566G>A (p.Arg189Gln) http://identifiers.org/clinvar/48184 ^@ NM_194248.2(OTOF):c.2037C>T (p.Ala679=) http://identifiers.org/clinvar/48234 ^@ NM_194248.2(OTOF):c.4341G>A (p.Glu1447=) http://identifiers.org/clinvar/48284 ^@ NM_001099404.1(SCN5A):c.1441C>T (p.Arg481Trp) http://identifiers.org/clinvar/48335 ^@ NM_206883.2(SLC26A5):c.1233+14A>G http://identifiers.org/clinvar/48385 ^@ NM_206933.2(USH2A):c.11927C>T (p.Thr3976Met) http://identifiers.org/clinvar/48435 ^@ NM_206933.2(USH2A):c.14322C>T (p.Ser4774=) http://identifiers.org/clinvar/48485 ^@ NM_206933.2(USH2A):c.2167+4C>T http://identifiers.org/clinvar/37 ^@ NM_001201543.1(FAM161A):c.1355_1356delCA (p.Thr452Serfs) http://identifiers.org/clinvar/72 ^@ NM_000374.4(UROD):c.942G>A (p.Glu314=) http://identifiers.org/clinvar/263 ^@ NM_178452.5(DNAAF1):c.1349dupC (p.Pro451Alafs) http://identifiers.org/clinvar/497 ^@ NM_173560.3(RFX6):c.224-12A>G http://identifiers.org/clinvar/506 ^@ NM_001142446.1(ANK1):c.5128G>T (p.Glu1710Ter) http://identifiers.org/clinvar/529 ^@ NM_018139.2(DNAAF2):c.23C>A (p.Ser8Ter) http://identifiers.org/clinvar/543 ^@ NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) http://identifiers.org/clinvar/656 ^@ NM_000312.3(PROC):c.1042C>T (p.Arg348Ter) http://identifiers.org/clinvar/1094 ^@ NM_000642.2(AGL):c.4529dupA (p.Tyr1510Terfs) http://identifiers.org/clinvar/1103 ^@ NM_000642.2(AGL):c.3965delT (p.Val1322Alafs) http://identifiers.org/clinvar/1112 ^@ NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs) http://identifiers.org/clinvar/1172 ^@ CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA http://identifiers.org/clinvar/1217 ^@ FAM126A, 4-KB DEL http://identifiers.org/clinvar/1268 ^@ NM_194318.3(B3GLCT):c.1178G>A (p.Gly393Glu) http://identifiers.org/clinvar/1312 ^@ NM_001174089.1(SLC4A11):c.425_432delGCTTCGCC (p.Arg142Glnfs) http://identifiers.org/clinvar/1358 ^@ NM_170740.1(ALDH5A1):c.1273C>T (p.Arg425Ter) http://identifiers.org/clinvar/2035 ^@ CHD7, IVS8, G-A, +5 http://identifiers.org/clinvar/2080 ^@ NM_020435.3(GJC2):c.778C>T (p.Arg260Cys) http://identifiers.org/clinvar/2126 ^@ NM_015645.4(C1QTNF5):c.489C>G (p.Ser163Arg) http://identifiers.org/clinvar/2173 ^@ ROBO3, 1-BP INS, 3325G http://identifiers.org/clinvar/2218 ^@ NM_000551.3(VHL):c.499C>T (p.Arg167Trp) http://identifiers.org/clinvar/242819 ^@ NM_000433.3(NCF2):c.479A>T (p.Asp160Val) http://identifiers.org/clinvar/2263 ^@ NM_000101.3(CYBA):c.214T>C (p.Tyr72His) http://identifiers.org/clinvar/2309 ^@ NM_005609.3(PYGM):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/2445 ^@ NEU1, 1-BP DEL, 1337C http://identifiers.org/clinvar/2491 ^@ ATCAY, IVS9, G-T, +3, SER301ARG http://identifiers.org/clinvar/2537 ^@ NM_001002020.2(PUS1):c.574G>T (p.Glu192Ter) http://identifiers.org/clinvar/2584 ^@ NM_000483.4(APOC2):c.255C>A (p.Tyr85Ter) http://identifiers.org/clinvar/2676 ^@ NM_182760.3(SUMF1):c.1042G>C (p.Ala348Pro) http://identifiers.org/clinvar/2722 ^@ NM_177986.4(DSG4):c.2038dupT (p.Ser680Phefs) http://identifiers.org/clinvar/2768 ^@ NM_024312.4(GNPTAB):c.2715+1G>A http://identifiers.org/clinvar/2812 ^@ NM_025074.6(FRAS1):c.3799C>T (p.Gln1267Ter) http://identifiers.org/clinvar/2858 ^@ NM_173076.2(ABCA12):c.4615G>A (p.Glu1539Lys) http://identifiers.org/clinvar/2903 ^@ NM_000419.4(ITGA2B):c.1878G>C (p.Gln626His) http://identifiers.org/clinvar/2949 ^@ NM_030665.3(RAI1):c.5423G>A (p.Ser1808Asn) http://identifiers.org/clinvar/2995 ^@ NM_000543.4(SMPD1):c.1451C>A (p.Ala484Glu) http://identifiers.org/clinvar/3041 ^@ NM_000051.3(ATM):c.4081C>T (p.Gln1361Ter) http://identifiers.org/clinvar/3089 ^@ NM_000487.5(ARSA):c.410T>C (p.Leu137Pro) http://identifiers.org/clinvar/3140 ^@ NM_000218.2(KCNQ1):c.1766G>A (p.Gly589Asp) http://identifiers.org/clinvar/3189 ^@ NM_017653.3(DYM):c.259G>A (p.Glu87Lys) http://identifiers.org/clinvar/3235 ^@ POMT2, IVS12AS, G-A, -14 http://identifiers.org/clinvar/3282 ^@ NM_000268.3(NF2):c.1079T>C (p.Leu360Pro) http://identifiers.org/clinvar/10487 ^@ NM_000202.7(IDS):c.998C>T (p.Ser333Leu) http://identifiers.org/clinvar/10532 ^@ NM_000292.2(PHKA2):c.421_423delTTC (p.Phe141del) http://identifiers.org/clinvar/10578 ^@ NM_000133.3(F9):c.301C>G (p.Pro101Ala) http://identifiers.org/clinvar/10622 ^@ NM_000133.3(F9):c.1307C>A (p.Ala436Glu) http://identifiers.org/clinvar/10668 ^@ NM_000133.3(F9):c.1151G>T (p.Arg384Leu) http://identifiers.org/clinvar/10713 ^@ NM_000169.2(GLA):c.1066C>T (p.Arg356Trp) http://identifiers.org/clinvar/10759 ^@ GLA, EX3-4DEL http://identifiers.org/clinvar/10803 ^@ NM_153252.4(BRWD3):c.946dupA (p.Arg316Lysfs) http://identifiers.org/clinvar/10849 ^@ NM_000054.4(AVPR2):c.410G>A (p.Arg137His) http://identifiers.org/clinvar/10895 ^@ FTSJ1, 196C-T http://identifiers.org/clinvar/10986 ^@ OTC, DEL http://identifiers.org/clinvar/11075 ^@ NM_001128834.2(PLP1):c.44C>T (p.Pro15Leu) http://identifiers.org/clinvar/11166 ^@ CD40LG, 8-BP DEL http://identifiers.org/clinvar/11210 ^@ NM_004006.2(DMD):c.5551C>T (p.Gln1851Ter) http://identifiers.org/clinvar/11256 ^@ NM_004006.2(DMD):c.4213C>T (p.Gln1405Ter) http://identifiers.org/clinvar/11300 ^@ NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln) http://identifiers.org/clinvar/11347 ^@ NM_000061.2(BTK):c.1750+5G>A http://identifiers.org/clinvar/11392 ^@ NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) http://identifiers.org/clinvar/11503 ^@ NM_003159.2(CDKL5):c.215T>C (p.Ile72Thr) http://identifiers.org/clinvar/11554 ^@ NM_001159702.2(FHL1):c.449G>A (p.Cys150Tyr) http://identifiers.org/clinvar/11604 ^@ DCX, 2-BP INS, 36AG http://identifiers.org/clinvar/11654 ^@ NM_004586.2(RPS6KA3):c.326-1G>C http://identifiers.org/clinvar/11705 ^@ SLC6A8, 3-BP DEL, 1006AAC http://identifiers.org/clinvar/11756 ^@ NM_001110556.1(FLNA):c.760G>A (p.Glu254Lys) http://identifiers.org/clinvar/11807 ^@ CLCN5, ALU INS, EX11 http://identifiers.org/clinvar/11857 ^@ MYO7A, 9-BP DEL, EX22 http://identifiers.org/clinvar/11907 ^@ NM_000373.3(UMPS):c.326T>G (p.Val109Gly) http://identifiers.org/clinvar/92627 ^@ NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg) http://identifiers.org/clinvar/11957 ^@ NM_000191.2(HMGCL):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/12059 ^@ NM_000504.3(F10):c.859A>T (p.Arg287Trp) http://identifiers.org/clinvar/12109 ^@ C7, 1-BP DEL, 1309A http://identifiers.org/clinvar/12159 ^@ NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser) http://identifiers.org/clinvar/12214 ^@ NM_000490.4(AVP):c.160G>C (p.Gly54Arg) http://identifiers.org/clinvar/12265 ^@ NM_001145031.2(PLAU):c.371C>T (p.Pro124Leu) http://identifiers.org/clinvar/12317 ^@ NM_002253.2(KDR):c.3439C>T (p.Pro1147Ser) http://identifiers.org/clinvar/12368 ^@ NM_000546.5(TP53):c.839G>C (p.Arg280Thr) http://identifiers.org/clinvar/12419 ^@ NM_000363.4(TNNI3):c.433C>G (p.Arg145Gly) http://identifiers.org/clinvar/12570 ^@ THRB, 1-BP DEL, CODON 438, C http://identifiers.org/clinvar/12621 ^@ NM_001063.3(TF):c.229G>A (p.Asp77Asn) http://identifiers.org/clinvar/12671 ^@ PRKAR1A, 16-BP DEL http://identifiers.org/clinvar/12773 ^@ NM_002354.2(EPCAM):c.197G>A (p.Cys66Tyr) http://identifiers.org/clinvar/36661 ^@ NM_014697.2(NOS1AP):c.1217C>T (p.Ala406Val) http://identifiers.org/clinvar/36713 ^@ NM_000448.2(RAG1):c.2904C>A (p.Asn968Lys) http://identifiers.org/clinvar/36766 ^@ NM_198056.2(SCN5A):c.630G>A (p.Val210=) http://identifiers.org/clinvar/36816 ^@ NM_000545.6(HNF1A):c.281C>T (p.Pro94Leu) http://identifiers.org/clinvar/37754 ^@ NM_000059.3(BRCA2):c.1755_1759delGAAAA (p.Lys585Asnfs) http://identifiers.org/clinvar/37808 ^@ NM_000059.3(BRCA2):c.2937A>G (p.Ile979Met) http://identifiers.org/clinvar/37859 ^@ NM_000059.3(BRCA2):c.3847_3848delGT (p.Val1283Lysfs) http://identifiers.org/clinvar/37913 ^@ NM_000059.3(BRCA2):c.4631delA (p.Asn1544Thrfs) http://identifiers.org/clinvar/37967 ^@ NM_000059.3(BRCA2):c.5471dupA (p.Asn1824Lysfs) http://identifiers.org/clinvar/38018 ^@ NM_000059.3(BRCA2):c.6125A>C (p.Gln2042Pro) http://identifiers.org/clinvar/38072 ^@ NM_000059.3(BRCA2):c.688A>T (p.Lys230Ter) http://identifiers.org/clinvar/38122 ^@ NM_000059.3(BRCA2):c.7857G>A (p.Trp2619Ter) http://identifiers.org/clinvar/38222 ^@ NM_000059.3(BRCA2):c.9242T>C (p.Val3081Ala) http://identifiers.org/clinvar/38278 ^@ NM_000060.4(BTD):c.968A>G (p.His323Arg) http://identifiers.org/clinvar/38617 ^@ NM_020975.4(RET):c.1544_1545delGCinsCT (p.Cys515Ser) http://identifiers.org/clinvar/38774 ^@ NM_000495.4(COL4A5):c.3017-?_3246+?del http://identifiers.org/clinvar/38887 ^@ NM_000553.4(WRN):c.2179dupT (p.Cys727Leufs) http://identifiers.org/clinvar/38948 ^@ NM_001363.4(DKC1):c.204C>A (p.His68Gln) http://identifiers.org/clinvar/39000 ^@ NM_012203.1(GRHPR):c.866-25_866-10CT(8_9) http://identifiers.org/clinvar/39050 ^@ NM_024312.4(GNPTAB):c.232_234delGTT (p.Val78del) http://identifiers.org/clinvar/39103 ^@ TERT:c.1710G>Y (p.Lys570Asn) http://identifiers.org/clinvar/39157 ^@ NM_198578.3(LRRK2):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/39207 ^@ NM_198578.3(LRRK2):c.5183G>T (p.Arg1728Leu) http://identifiers.org/clinvar/39258 ^@ NM_207352.3(CYP4V2):c.1526C>T (p.Pro509Leu) http://identifiers.org/clinvar/39418 ^@ NM_003361.3(UMOD):c.649T>G (p.Cys217Gly) http://identifiers.org/clinvar/39471 ^@ ABCC8, 1-BP DUP, 512T http://identifiers.org/clinvar/39522 ^@ NM_000359.2(TGM1):c.1303_1307delTTCCA (p.Phe435Cysfs) http://identifiers.org/clinvar/39572 ^@ NM_001168272.1(ITPR1):c.1759A>G (p.Asn587Asp) http://identifiers.org/clinvar/39971 ^@ NM_182978.3(GNAL):c.822dupA (p.Arg275Thrfs) http://identifiers.org/clinvar/40071 ^@ NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs) http://identifiers.org/clinvar/40223 ^@ NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) http://identifiers.org/clinvar/40362 ^@ NM_004333.4(BRAF):c.1332G>A (p.Arg444=) http://identifiers.org/clinvar/52181 ^@ NM_000059.3(BRCA2):c.676A>G (p.Thr226Ala) http://identifiers.org/clinvar/52232 ^@ NM_000059.3(BRCA2):c.6990_6994delTACCT (p.Ile2330Metfs) http://identifiers.org/clinvar/52283 ^@ NM_000059.3(BRCA2):c.7193C>G (p.Thr2398Ser) http://identifiers.org/clinvar/52333 ^@ NM_000059.3(BRCA2):c.7443delT (p.Thr2482Glnfs) http://identifiers.org/clinvar/52383 ^@ NM_000059.3(BRCA2):c.767delC (p.Thr256Lysfs) http://identifiers.org/clinvar/52434 ^@ NM_000059.3(BRCA2):c.7915C>G (p.Pro2639Ala) http://identifiers.org/clinvar/52484 ^@ NM_000059.3(BRCA2):c.8047_8054dupGCAAAAAC (p.Leu2686Glnfs) http://identifiers.org/clinvar/52534 ^@ NM_000059.3(BRCA2):c.8237_8238delCA (p.Thr2746Serfs) http://identifiers.org/clinvar/52585 ^@ NM_000059.3(BRCA2):c.8432A>G (p.Asp2811Gly) http://identifiers.org/clinvar/52636 ^@ NM_000059.3(BRCA2):c.8629G>T (p.Glu2877Ter) http://identifiers.org/clinvar/52687 ^@ NM_000059.3(BRCA2):c.8824G>A (p.Ala2942Thr) http://identifiers.org/clinvar/52737 ^@ NM_000059.3(BRCA2):c.905C>G (p.Thr302Ser) http://identifiers.org/clinvar/52789 ^@ NM_000059.3(BRCA2):c.9257-10delT http://identifiers.org/clinvar/52840 ^@ NM_000059.3(BRCA2):c.9455_9456delAG (p.Glu3152Glyfs) http://identifiers.org/clinvar/52890 ^@ NM_000059.3(BRCA2):c.9677A>G (p.Tyr3226Cys) http://identifiers.org/clinvar/52940 ^@ NM_000218.2(KCNQ1):c.1033G>C (p.Gly345Arg) http://identifiers.org/clinvar/52990 ^@ NM_000218.2(KCNQ1):c.1541T>C (p.Ile514Thr) http://identifiers.org/clinvar/53040 ^@ NM_000218.2(KCNQ1):c.394A>C (p.Ile132Leu) http://identifiers.org/clinvar/53090 ^@ NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) http://identifiers.org/clinvar/53141 ^@ NM_000218.2(KCNQ1):c.944A>T (p.Tyr315Phe) http://identifiers.org/clinvar/53193 ^@ NM_000492.3(CFTR):c.1117-30_1117-29delTA http://identifiers.org/clinvar/53246 ^@ NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) http://identifiers.org/clinvar/53297 ^@ NM_000492.3(CFTR):c.1606A>T (p.Lys536Ter) http://identifiers.org/clinvar/53347 ^@ NM_000492.3(CFTR):c.169T>G (p.Trp57Gly) http://identifiers.org/clinvar/53397 ^@ NM_000492.3(CFTR):c.1823A>G (p.Glu608Gly) http://identifiers.org/clinvar/53449 ^@ NM_000492.3(CFTR):c.217delC (p.Leu73Phefs) http://identifiers.org/clinvar/53502 ^@ NM_000492.3(CFTR):c.2496C>A (p.Cys832Ter) http://identifiers.org/clinvar/54202 ^@ NM_007294.3(BRCA1):c.1326T>A (p.Cys442Ter) http://identifiers.org/clinvar/54252 ^@ NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) http://identifiers.org/clinvar/54303 ^@ NM_007294.3(BRCA1):c.1600C>T (p.Gln534Ter) http://identifiers.org/clinvar/54353 ^@ NM_007294.3(BRCA1):c.179delA (p.Gln60Argfs) http://identifiers.org/clinvar/54404 ^@ NM_007294.3(BRCA1):c.1934C>A (p.Ser645Tyr) http://identifiers.org/clinvar/54454 ^@ NM_007294.3(BRCA1):c.2079_2080delCA (p.Asp693Glufs) http://identifiers.org/clinvar/54504 ^@ NM_007294.3(BRCA1):c.2216_2217delAA (p.Lys739Serfs) http://identifiers.org/clinvar/54554 ^@ NM_007294.3(BRCA1):c.2390_2391delAA (p.Glu797Alafs) http://identifiers.org/clinvar/54704 ^@ NM_007294.3(BRCA1):c.286G>A (p.Asp96Asn) http://identifiers.org/clinvar/54754 ^@ NM_007294.3(BRCA1):c.3020C>G (p.Ser1007Ter) http://identifiers.org/clinvar/54804 ^@ NM_007294.3(BRCA1):c.3239T>A (p.Leu1080Ter) http://identifiers.org/clinvar/54854 ^@ NM_007294.3(BRCA1):c.3354_3355delGA (p.Gln1118Hisfs) http://identifiers.org/clinvar/54904 ^@ NM_007294.3(BRCA1):c.3505_3509delGACAT (p.Asp1169Terfs) http://identifiers.org/clinvar/54956 ^@ NM_007294.3(BRCA1):c.3655G>A (p.Glu1219Lys) http://identifiers.org/clinvar/55007 ^@ NM_007294.3(BRCA1):c.3785C>T (p.Ser1262Leu) http://identifiers.org/clinvar/55057 ^@ NM_007294.3(BRCA1):c.3944C>A (p.Pro1315His) http://identifiers.org/clinvar/55108 ^@ NM_007294.3(BRCA1):c.4123G>T (p.Glu1375Ter) http://identifiers.org/clinvar/55159 ^@ NM_007294.3(BRCA1):c.4266dupG (p.Ser1423Glufs) http://identifiers.org/clinvar/55210 ^@ NM_007294.3(BRCA1):c.4484+14A>G http://identifiers.org/clinvar/55260 ^@ NM_007294.3(BRCA1):c.4684_4685delCC (p.Pro1562Leufs) http://identifiers.org/clinvar/55311 ^@ NM_007294.3(BRCA1):c.4903G>T (p.Glu1635Ter) http://identifiers.org/clinvar/55361 ^@ NM_007294.3(BRCA1):c.5044G>A (p.Glu1682Lys) http://identifiers.org/clinvar/55411 ^@ NM_007294.3(BRCA1):c.5137delG (p.Val1713Terfs) http://identifiers.org/clinvar/55461 ^@ NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) http://identifiers.org/clinvar/55514 ^@ NM_007294.3(BRCA1):c.5307T>A (p.Tyr1769Ter) http://identifiers.org/clinvar/55564 ^@ NM_007294.3(BRCA1):c.5406+5G>A http://identifiers.org/clinvar/55614 ^@ NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro) http://identifiers.org/clinvar/242666 ^@ NM_001142864.3(PIEZO1):c.1848+31C>G http://identifiers.org/clinvar/55976 ^@ NM_000111.2(SLC26A3):c.1515-2delA http://identifiers.org/clinvar/56029 ^@ NM_000112.3(SLC26A2):c.906_907delCT (p.Cys303Terfs) http://identifiers.org/clinvar/56080 ^@ NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) http://identifiers.org/clinvar/56134 ^@ NM_000274.3(OAT):c.710G>A (p.Gly237Asp) http://identifiers.org/clinvar/101157 ^@ NM_000090.3(COL3A1):c.3509G>A (p.Gly1170Asp) http://identifiers.org/clinvar/101207 ^@ NM_000090.3(COL3A1):c.3223_3240del18 (p.Ala1075_Gly1080del) http://identifiers.org/clinvar/101257 ^@ NM_000090.3(COL3A1):c.3490G>T (p.Gly1164Trp) http://identifiers.org/clinvar/101307 ^@ NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp) http://identifiers.org/clinvar/101357 ^@ NM_000090.3(COL3A1):c.1923+2_1923+5delTAAG (p.Gly624_Gln641del) http://identifiers.org/clinvar/103135 ^@ NM_024618.3(NLRX1):c.1656C>T (p.Leu552=) http://identifiers.org/clinvar/103185 ^@ NM_032206.4(NLRC5):c.3905G>A (p.Arg1302Gln) http://identifiers.org/clinvar/103235 ^@ NM_138329.2(NLRP6):c.2078G>A (p.Arg693Gln) http://identifiers.org/clinvar/103285 ^@ NM_153447.4(NLRP5):c.2572T>C (p.Cys858Arg) http://identifiers.org/clinvar/103335 ^@ NM_176821.3(NLRP10):c.1873_1875delAAG (p.Lys625del) http://identifiers.org/clinvar/111209 ^@ NM_000416.2(IFNGR1):c.1204_1230dup27 (p.Asn410_Gly411insCysSerGluSerAspHisSerArgAsn) http://identifiers.org/clinvar/111259 ^@ NM_005534.3(IFNGR2):c.889G>A (p.Asp297Asn) http://identifiers.org/clinvar/120217 ^@ NM_198947.3(FAM111B):c.1861T>G (p.Tyr621Asp) http://identifiers.org/clinvar/120271 ^@ NM_000277.1(PAH):c.205_210dupCCTTCT (p.Ser70_Arg71insProSer) http://identifiers.org/clinvar/120321 ^@ NM_004102.4(FABP3):c.395delA (p.Glu132Glyfs) http://identifiers.org/clinvar/125484 ^@ NM_007294.3(BRCA1):c.-3G>C http://identifiers.org/clinvar/125559 ^@ U14680.1:n.2494delC http://identifiers.org/clinvar/125644 ^@ NM_007294.3(BRCA1):c.3649_3650insA (p.Ser1217Tyrfs) http://identifiers.org/clinvar/125710 ^@ NM_007294.3(BRCA1):c.4358-10C>T http://identifiers.org/clinvar/125777 ^@ NM_007294.3(BRCA1):c.5152+6T>C http://identifiers.org/clinvar/125850 ^@ NM_007294.3(BRCA1):c.5464_5465insT (p.His1822Leufs) http://identifiers.org/clinvar/125907 ^@ NM_007294.3(BRCA1):c.671-18_671-16delATT http://identifiers.org/clinvar/125975 ^@ NM_000059.3(BRCA2):c.-12T>G http://identifiers.org/clinvar/126034 ^@ NM_000059.3(BRCA2):c.4027A>G (p.Lys1343Glu) http://identifiers.org/clinvar/126109 ^@ NM_000059.3(BRCA2):c.6535dupG (p.Val2179Glyfs) http://identifiers.org/clinvar/126168 ^@ NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) http://identifiers.org/clinvar/126234 ^@ NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) http://identifiers.org/clinvar/126284 ^@ NM_024809.4(TCTN2):c.1235-28A>G http://identifiers.org/clinvar/126335 ^@ NM_020732.3(ARID1B):c.5207A>C (p.Glu1736Ala) http://identifiers.org/clinvar/126391 ^@ NM_016381.5(TREX1):c.774_827dup54 (p.Ala276_His277insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) http://identifiers.org/clinvar/127523 ^@ NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) http://identifiers.org/clinvar/127573 ^@ NM_000179.2(MSH6):c.2712T>G (p.Asp904Glu) http://identifiers.org/clinvar/160793 ^@ GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x3 http://identifiers.org/clinvar/161281 ^@ NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) http://identifiers.org/clinvar/178010 ^@ NM_001232.3(CASQ2):c.540G>A (p.Lys180=) http://identifiers.org/clinvar/167816 ^@ NM_206933.2(USH2A):c.5048A>G (p.Asn1683Ser) http://identifiers.org/clinvar/179818 ^@ NM_001035.2(RYR2):c.3656A>C (p.Lys1219Thr) http://identifiers.org/clinvar/179718 ^@ NM_001267550.2(TTN):c.46078_46092delATTAAAGACTGTGGC (p.Ile15360_Gly15364del) http://identifiers.org/clinvar/180118 ^@ NM_206933.2(USH2A):c.1601A>G (p.Tyr534Cys) http://identifiers.org/clinvar/180068 ^@ NM_133378.4(TTN):c.92949C>A (p.Gly30983=) http://identifiers.org/clinvar/178160 ^@ NM_001256850.1(TTN):c.95046C>T (p.Ile31682=) http://identifiers.org/clinvar/178210 ^@ NM_001256850.1(TTN):c.41657T>A (p.Met13886Lys) http://identifiers.org/clinvar/178260 ^@ NM_133379.4(TTN):c.14240A>T (p.Asp4747Val) http://identifiers.org/clinvar/179968 ^@ NM_133378.4(TTN):c.22323C>T (p.Ser7441=) http://identifiers.org/clinvar/179918 ^@ NM_133378.4(TTN):c.13768G>A (p.Val4590Ile) http://identifiers.org/clinvar/163067 ^@ NM_005219.4(DIAPH1):c.3230C>G (p.Pro1077Arg) http://identifiers.org/clinvar/178510 ^@ NM_194248.2(OTOF):c.2507G>A (p.Arg836His) http://identifiers.org/clinvar/178110 ^@ NM_002880.3(RAF1):c.321-14T>A http://identifiers.org/clinvar/178778 ^@ NM_032383.4(HPS3):c.1479G>A (p.Thr493=) http://identifiers.org/clinvar/163262 ^@ NM_004415.3(DSP):c.3474dupA (p.Glu1159Argfs) http://identifiers.org/clinvar/178728 ^@ NM_001277115.1(DNAH11):c.7335G>A (p.Ser2445=) http://identifiers.org/clinvar/177808 ^@ NM_005228.4(EGFR):c.2235_2251del17insAATTC (p.Glu746_Thr751delinsIlePro) http://identifiers.org/clinvar/162805 ^@ NM_004333.4(BRAF):c.-77_-72delGCCTCC http://identifiers.org/clinvar/163119 ^@ NM_001277115.1(DNAH11):c.10411G>A (p.Glu3471Lys) http://identifiers.org/clinvar/163660 ^@ NM_000601.5(HGF):c.983G>T (p.Arg328Leu) http://identifiers.org/clinvar/198455 ^@ NM_001111035.2(ACP5):c.814C>T (p.Arg272Cys) http://identifiers.org/clinvar/198509 ^@ NM_004385.4(VCAN):c.3957C>A (p.His1319Gln) http://identifiers.org/clinvar/198560 ^@ NM_014141.5(CNTNAP2):c.1037A>G (p.Asn346Ser) http://identifiers.org/clinvar/198612 ^@ NM_001177317.1(SLC34A3):c.756+9G>A http://identifiers.org/clinvar/198769 ^@ NM_001242957.2(MAK):c.710G>A (p.Arg237His) http://identifiers.org/clinvar/198876 ^@ NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) http://identifiers.org/clinvar/198930 ^@ NM_198859.3(PRICKLE2):c.2219C>T (p.Ser740Phe) http://identifiers.org/clinvar/198981 ^@ NM_000026.3(ADSL):c.895A>G (p.Met299Val) http://identifiers.org/clinvar/199032 ^@ NM_000531.5(OTC):c.870T>C (p.Thr290=) http://identifiers.org/clinvar/199083 ^@ NM_003165.3(STXBP1):c.704G>A (p.Arg235Gln) http://identifiers.org/clinvar/199137 ^@ NM_015404.3(WHRN):c.2203G>A (p.Val735Ile) http://identifiers.org/clinvar/199188 ^@ NM_001128225.2(SLC39A13):c.978C>T (p.Gly326=) http://identifiers.org/clinvar/199243 ^@ NM_004543.4(NEB):c.14182_14183delGCinsAA (p.Ala4728Asn) http://identifiers.org/clinvar/200936 ^@ NM_170707.3(LMNA):c.471G>A (p.Thr157=) http://identifiers.org/clinvar/199692 ^@ NM_000090.3(COL3A1):c.1051-13G>A http://identifiers.org/clinvar/199746 ^@ NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) http://identifiers.org/clinvar/199853 ^@ NM_004415.3(DSP):c.841A>G (p.Arg281Gly) http://identifiers.org/clinvar/199912 ^@ NM_004415.3(DSP):c.8531G>T (p.Gly2844Val) http://identifiers.org/clinvar/200875 ^@ NM_000218.2(KCNQ1):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/200822 ^@ NM_000218.2(KCNQ1):c.758C>T (p.Ser253Phe) http://identifiers.org/clinvar/201004 ^@ NM_130799.2(MEN1):c.1710_1715delCAACTC (p.Ile570_Ser572delinsMet) http://identifiers.org/clinvar/200194 ^@ NM_000138.4(FBN1):c.6496G>T (p.Asp2166Tyr) http://identifiers.org/clinvar/200080 ^@ NM_000138.4(FBN1):c.6313G>C (p.Glu2105Gln) http://identifiers.org/clinvar/200025 ^@ NM_000138.4(FBN1):c.3838G>A (p.Asp1280Asn) http://identifiers.org/clinvar/199970 ^@ NM_000138.4(FBN1):c.1552G>A (p.Gly518Arg) http://identifiers.org/clinvar/200140 ^@ NM_000138.4(FBN1):c.229G>A (p.Gly77Arg) http://identifiers.org/clinvar/201065 ^@ NM_002474.2(MYH11):c.3563G>A (p.Arg1188Gln) http://identifiers.org/clinvar/199800 ^@ NM_001943.4(DSG2):c.769C>T (p.Gln257Ter) http://identifiers.org/clinvar/202126 ^@ NM_024334.2(TMEM43):c.244C>G (p.Pro82Ala) http://identifiers.org/clinvar/201952 ^@ NM_014476.5(PDLIM3):c.573T>A (p.Asn191Lys) http://identifiers.org/clinvar/202067 ^@ NM_001134363.2(RBM20):c.2287G>A (p.Glu763Lys) http://identifiers.org/clinvar/202009 ^@ NM_004572.3(PKP2):c.240delC (p.Ser81Alafs) http://identifiers.org/clinvar/202182 ^@ NM_020812.3(DOCK6):c.4469G>A (p.Arg1490Gln) http://identifiers.org/clinvar/202232 ^@ NC_000003.11:g.(?_73524387)_(73613399_?)del http://identifiers.org/clinvar/203076 ^@ NM_001256850.1(TTN):c.99170G>A (p.Arg33057Gln) http://identifiers.org/clinvar/203026 ^@ NM_001256850.1(TTN):c.92324C>T (p.Ser30775Leu) http://identifiers.org/clinvar/202976 ^@ NM_001256850.1(TTN):c.86276A>T (p.Tyr28759Phe) http://identifiers.org/clinvar/202523 ^@ NM_001256850.1(TTN):c.81193C>T (p.Arg27065Ter) http://identifiers.org/clinvar/202926 ^@ NM_001256850.1(TTN):c.80041C>T (p.Arg26681Cys) http://identifiers.org/clinvar/202410 ^@ NM_001256850.1(TTN):c.73774G>T (p.Glu24592Ter) http://identifiers.org/clinvar/202876 ^@ NM_001256850.1(TTN):c.72265A>G (p.Ile24089Val) http://identifiers.org/clinvar/202465 ^@ NM_001256850.1(TTN):c.67057_67063delGCATATGinsTA (p.Ala22353Terfs) http://identifiers.org/clinvar/202826 ^@ NM_001256850.1(TTN):c.65584T>G (p.Cys21862Gly) http://identifiers.org/clinvar/233746 ^@ NM_000038.5(APC):c.5472T>C (p.Asn1824=) http://identifiers.org/clinvar/234047 ^@ NM_000038.5(APC):c.6281delC (p.Pro2094Leufs) http://identifiers.org/clinvar/229765 ^@ NM_000038.5(APC):c.7412C>T (p.Pro2471Leu) http://identifiers.org/clinvar/231654 ^@ NM_000038.5(APC):c.7715C>G (p.Ser2572Ter) http://identifiers.org/clinvar/231504 ^@ NM_005732.3(RAD50):c.1385A>G (p.Tyr462Cys) http://identifiers.org/clinvar/230754 ^@ NM_005732.3(RAD50):c.2395C>G (p.Gln799Glu) http://identifiers.org/clinvar/232844 ^@ NM_005732.3(RAD50):c.2650C>T (p.Arg884Cys) http://identifiers.org/clinvar/233544 ^@ NM_005732.3(RAD50):c.3807T>C (p.His1269=) http://identifiers.org/clinvar/233997 ^@ NM_000535.6(PMS2):c.1854G>A (p.Leu618=) http://identifiers.org/clinvar/234247 ^@ NM_000535.6(PMS2):c.892G>A (p.Asp298Asn) http://identifiers.org/clinvar/233194 ^@ NM_000535.6(PMS2):c.226G>C (p.Glu76Gln) http://identifiers.org/clinvar/233947 ^@ NM_004329.2(BMPR1A):c.967T>A (p.Cys323Ser) http://identifiers.org/clinvar/231154 ^@ NM_000314.6(PTEN):c.847C>T (p.Pro283Ser) http://identifiers.org/clinvar/233644 ^@ NM_000314.6(PTEN):c.870A>G (p.Val290=) http://identifiers.org/clinvar/231354 ^@ NM_000051.3(ATM):c.200A>G (p.Tyr67Cys) http://identifiers.org/clinvar/231004 ^@ NM_000051.3(ATM):c.1296G>C (p.Leu432=) http://identifiers.org/clinvar/231204 ^@ NM_000051.3(ATM):c.2805G>T (p.Thr935=) http://identifiers.org/clinvar/233444 ^@ NM_005591.3(MRE11):c.1350A>G (p.Thr450=) http://identifiers.org/clinvar/231054 ^@ NM_000059.3(BRCA2):c.2623_2624delGT (p.Val875Glnfs) http://identifiers.org/clinvar/231604 ^@ NM_000059.3(BRCA2):c.3405C>A (p.Tyr1135Ter) http://identifiers.org/clinvar/231404 ^@ NM_000059.3(BRCA2):c.5266G>C (p.Val1756Leu) http://identifiers.org/clinvar/231754 ^@ NM_000059.3(BRCA2):c.5719T>A (p.Ser1907Thr) http://identifiers.org/clinvar/233294 ^@ NM_000059.3(BRCA2):c.6524A>G (p.Glu2175Gly) http://identifiers.org/clinvar/234197 ^@ NM_000059.3(BRCA2):c.9874C>T (p.Pro3292Ser) http://identifiers.org/clinvar/230604 ^@ NM_000059.3(BRCA2):c.10030C>G (p.Leu3344Val) http://identifiers.org/clinvar/231804 ^@ NM_024675.3(PALB2):c.3027T>C (p.Pro1009=) http://identifiers.org/clinvar/233796 ^@ NM_024675.3(PALB2):c.2635delA (p.Arg879Glufs) http://identifiers.org/clinvar/230954 ^@ NM_024675.3(PALB2):c.870G>A (p.Glu290=) http://identifiers.org/clinvar/231554 ^@ NM_004360.4(CDH1):c.1855C>T (p.Leu619Phe) http://identifiers.org/clinvar/231304 ^@ NM_001042492.2(NF1):c.586G>A (p.Glu196Lys) http://identifiers.org/clinvar/231104 ^@ NM_001042492.2(NF1):c.1721+5A>G http://identifiers.org/clinvar/229665 ^@ NM_001042492.2(NF1):c.1734T>C (p.Leu578=) http://identifiers.org/clinvar/231704 ^@ NM_001042492.2(NF1):c.3051A>C (p.Gln1017His) http://identifiers.org/clinvar/233847 ^@ NM_001042492.2(NF1):c.4943C>T (p.Thr1648Ile) http://identifiers.org/clinvar/231454 ^@ NM_001042492.2(NF1):c.7011T>G (p.Leu2337=) http://identifiers.org/clinvar/230704 ^@ NM_001042492.2(NF1):c.7609T>C (p.Leu2537=) http://identifiers.org/clinvar/230804 ^@ NM_032043.2(BRIP1):c.2556C>T (p.Asn852=) http://identifiers.org/clinvar/234097 ^@ NM_007194.3(CHEK2):c.494G>A (p.Gly165Asp) http://identifiers.org/clinvar/233394 ^@ NM_007194.3(CHEK2):c.14_20delCGGATGT (p.Ser5Leufs) http://identifiers.org/clinvar/235409 ^@ NM_001297.4(CNGB1):c.2854G>A (p.Val952Met) http://identifiers.org/clinvar/235464 ^@ NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) http://identifiers.org/clinvar/235518 ^@ NM_033517.1(SHANK3):c.3097G>A (p.Gly1033Arg) http://identifiers.org/clinvar/235569 ^@ NM_000037.3(ANK1):c.2495G>A (p.Arg832Gln) http://identifiers.org/clinvar/235619 ^@ NC_012920.1:m.3849G>A http://identifiers.org/clinvar/235672 ^@ NM_015120.4(ALMS1):c.9619A>G (p.Thr3207Ala) http://identifiers.org/clinvar/235732 ^@ NM_001001557.3(GDF6):c.73C>T (p.Gln25Ter) http://identifiers.org/clinvar/235807 ^@ NM_001034116.1(EIF2B4):c.302G>T (p.Arg101Leu) http://identifiers.org/clinvar/235859 ^@ NM_000159.3(GCDH):c.87G>A (p.Gln29=) http://identifiers.org/clinvar/236143 ^@ NM_000350.2(ABCA4):c.5973G>C (p.Val1991=) http://identifiers.org/clinvar/236093 ^@ NM_000350.2(ABCA4):c.2609C>T (p.Pro870Leu) http://identifiers.org/clinvar/236193 ^@ NM_000455.4(STK11):c.709G>T (p.Asp237Tyr) http://identifiers.org/clinvar/236281 ^@ NM_000059.3(BRCA2):c.6696delA (p.Ala2233Leufs) http://identifiers.org/clinvar/236332 ^@ NC_000016.8:g.5715799_6819584dup1103786 http://identifiers.org/clinvar/236382 ^@ NC_000016.9:g.6295074_6395368del100295 http://identifiers.org/clinvar/236533 ^@ NM_206933.2(USH2A):c.3158-2A>G http://identifiers.org/clinvar/236433 ^@ NM_152443.2(RDH12):c.383T>G (p.Val128Gly) http://identifiers.org/clinvar/236483 ^@ NM_001034853.1(RPGR):c.908G>A (p.Gly303Glu) http://identifiers.org/clinvar/240294 ^@ NM_006172.3(NPPA):c.78T>A (p.Asn26Lys) http://identifiers.org/clinvar/241983 ^@ NM_152383.4(DIS3L2):c.702+10T>G http://identifiers.org/clinvar/239843 ^@ NM_004304.4(ALK):c.472C>A (p.Pro158Thr) http://identifiers.org/clinvar/241733 ^@ NM_033084.4(FANCD2):c.1810G>A (p.Asp604Asn) http://identifiers.org/clinvar/240043 ^@ NM_004656.3(BAP1):c.1217A>T (p.Glu406Val) http://identifiers.org/clinvar/240344 ^@ NM_006206.4(PDGFRA):c.3179T>A (p.Ile1060Asn) http://identifiers.org/clinvar/236583 ^@ NM_000038.5(APC):c.2855C>A (p.Ala952Asp) http://identifiers.org/clinvar/236633 ^@ NM_000038.5(APC):c.6741T>C (p.Ser2247=) http://identifiers.org/clinvar/242233 ^@ NM_198253.2(TERT):c.2946T>C (p.Cys982=) http://identifiers.org/clinvar/240244 ^@ NM_005732.3(RAD50):c.3930T>C (p.Asn1310=) http://identifiers.org/clinvar/255793 ^@ NM_000297.3(PKD2):c.2586C>T (p.Ala862=) http://identifiers.org/clinvar/260043 ^@ NM_006846.3(SPINK5):c.1103G>A (p.Ser368Asn) http://identifiers.org/clinvar/259192 ^@ NM_003900.4(SQSTM1):c.954C>T (p.Ser318=) http://identifiers.org/clinvar/260843 ^@ NM_017651.4(AHI1):c.2299G>T (p.Val767Leu) http://identifiers.org/clinvar/262182 ^@ NM_033071.3(SYNE1):c.21443+13T>C http://identifiers.org/clinvar/260193 ^@ NM_012120.2(CD2AP):c.809-11C>A http://identifiers.org/clinvar/262382 ^@ NM_138694.3(PKHD1):c.10331T>C (p.Val3444Ala) http://identifiers.org/clinvar/259342 ^@ NM_004370.5(COL12A1):c.6198A>C (p.Pro2066=) http://identifiers.org/clinvar/259893 ^@ NM_005989.3(AKR1D1):c.60C>T (p.Ile20=) http://identifiers.org/clinvar/260693 ^@ NM_016203.3(PRKAG2):c.1051+36C>T http://identifiers.org/clinvar/254954 ^@ NM_000089.3(COL1A2):c.1665+15A>G http://identifiers.org/clinvar/260143 ^@ NM_007171.3(POMT1):c.1793T>C (p.Val598Ala) http://identifiers.org/clinvar/262432 ^@ NM_139025.4(ADAMTS13):c.19C>T (p.Arg7Trp) http://identifiers.org/clinvar/255054 ^@ NM_000093.4(COL5A1):c.1720-34C>T http://identifiers.org/clinvar/260243 ^@ NM_012330.3(KAT6B):c.4097_4105delAAGAGGAAG (p.Glu1366_Glu1368del) http://identifiers.org/clinvar/259943 ^@ NM_006204.3(PDE6C):c.1935+10C>A http://identifiers.org/clinvar/255993 ^@ NM_000392.4(ABCC2):c.1446C>G (p.Thr482=) http://identifiers.org/clinvar/259542 ^@ NM_004771.3(MMP20):c.842C>A (p.Thr281Asn) http://identifiers.org/clinvar/262682 ^@ NM_152722.4(HEPACAM):c.877+14C>T http://identifiers.org/clinvar/260793 ^@ NM_016952.4(CDON):c.3294G>A (p.Thr1098=) http://identifiers.org/clinvar/262732 ^@ NM_153676.3(USH1C):c.2381-46G>A http://identifiers.org/clinvar/259142 ^@ NM_003737.3(DCHS1):c.7147-9A>G http://identifiers.org/clinvar/261682 ^@ NM_024079.4(ALG8):c.674-29T>C http://identifiers.org/clinvar/259642 ^@ NM_005123.3(NR1H4):c.1233T>C (p.Leu411=) http://identifiers.org/clinvar/261832 ^@ NM_025114.3(CEP290):c.2052+27T>C http://identifiers.org/clinvar/260393 ^@ NM_014363.5(SACS):c.171+6C>T http://identifiers.org/clinvar/260293 ^@ NM_013382.5(POMT2):c.1408C>T (p.Leu470=) http://identifiers.org/clinvar/332888 ^@ NM_133378.4(TTN):c.29149A>G (p.Ile9717Val) http://identifiers.org/clinvar/332588 ^@ NM_003659.3(AGPS):c.*3977T>G http://identifiers.org/clinvar/335729 ^@ NM_004304.4(ALK):c.-566G>T http://identifiers.org/clinvar/332638 ^@ NM_003690.4(PRKRA):c.-65C>G http://identifiers.org/clinvar/335779 ^@ NM_000379.3(XDH):c.1857-4G>A http://identifiers.org/clinvar/333038 ^@ NM_002500.4(NEUROD1):c.646G>A (p.Val216Ile) http://identifiers.org/clinvar/332738 ^@ NM_133378.4(TTN):c.81288T>C (p.Asp27096=) http://identifiers.org/clinvar/335879 ^@ NM_014946.3(SPAST):c.*2318G>A http://identifiers.org/clinvar/335929 ^@ NM_000104.3(CYP1B1):c.*1141A>G http://identifiers.org/clinvar/332838 ^@ NM_133378.4(TTN):c.45532G>A (p.Ala15178Thr) http://identifiers.org/clinvar/335229 ^@ NM_004321.7(KIF1A):c.*2133T>C http://identifiers.org/clinvar/335329 ^@ NM_152783.4(D2HGDH):c.*93T>C http://identifiers.org/clinvar/335429 ^@ NM_194248.2(OTOF):c.5623G>A (p.Val1875Met) http://identifiers.org/clinvar/332988 ^@ NM_201548.4(CERKL):c.*869C>T http://identifiers.org/clinvar/335479 ^@ NM_000221.2(KHK):c.-140G>A http://identifiers.org/clinvar/333488 ^@ NM_032977.3(CASP10):c.*3019C>T http://identifiers.org/clinvar/335529 ^@ NM_002437.4(MPV17):c.-11G>C http://identifiers.org/clinvar/333138 ^@ NM_000393.4(COL5A2):c.3040-8T>C http://identifiers.org/clinvar/333238 ^@ NM_005259.2(MSTN):c.490G>A (p.Glu164Lys) http://identifiers.org/clinvar/333288 ^@ NM_007315.3(STAT1):c.634-13C>T http://identifiers.org/clinvar/333388 ^@ NM_001006657.1(WDR35):c.1904T>G (p.Ile635Ser) http://identifiers.org/clinvar/336686 ^@ NM_002618.3(PEX13):c.*956G>T http://identifiers.org/clinvar/333838 ^@ NM_014929.3(FASTKD2):c.*2114delT http://identifiers.org/clinvar/333938 ^@ NM_015040.3(PIKFYVE):c.5727G>A (p.Ala1909=) http://identifiers.org/clinvar/333538 ^@ NM_001044385.2(TMEM237):c.*2682G>C http://identifiers.org/clinvar/333588 ^@ NM_020919.3(ALS2):c.4123-4T>C http://identifiers.org/clinvar/336936 ^@ NM_032601.3(MCEE):c.428G>A (p.Arg143His) http://identifiers.org/clinvar/333638 ^@ NM_001204.6(BMPR2):c.86A>G (p.Asn29Ser) http://identifiers.org/clinvar/333788 ^@ NM_005006.6(NDUFS1):c.262-15delT http://identifiers.org/clinvar/336379 ^@ NM_139279.5(MCFD2):c.*64T>C http://identifiers.org/clinvar/336386 ^@ NM_139279.5(MCFD2):c.-34C>A http://identifiers.org/clinvar/336436 ^@ NM_000179.2(MSH6):c.-56G>T http://identifiers.org/clinvar/336486 ^@ NM_000145.3(FSHR):c.688A>G (p.Ile230Val) http://identifiers.org/clinvar/334579 ^@ NM_003590.4(CUL3):c.*3392A>G http://identifiers.org/clinvar/336986 ^@ NM_003124.4(SPR):c.-40C>G http://identifiers.org/clinvar/334629 ^@ NM_003590.4(CUL3):c.1708-14delT http://identifiers.org/clinvar/342526 ^@ NM_198196.2(CD96):c.634C>T (p.Leu212Phe) http://identifiers.org/clinvar/334829 ^@ NM_025243.3(SLC19A3):c.*2139G>A http://identifiers.org/clinvar/334879 ^@ NM_025243.3(SLC19A3):c.977G>T (p.Gly326Val) http://identifiers.org/clinvar/334929 ^@ NM_152383.4(DIS3L2):c.263C>T (p.Pro88Leu) http://identifiers.org/clinvar/335079 ^@ NM_000463.2(UGT1A1):c.294T>C (p.Asn98=) http://identifiers.org/clinvar/334729 ^@ NM_000092.4(COL4A4):c.1821G>A (p.Ala607=) http://identifiers.org/clinvar/335279 ^@ NM_004321.7(KIF1A):c.714G>A (p.Thr238=) http://identifiers.org/clinvar/335379 ^@ NM_000182.4(HADHA):c.1690-14C>T http://identifiers.org/clinvar/335029 ^@ NM_002242.4(KCNJ13):c.*2324C>T http://identifiers.org/clinvar/342576 ^@ NM_198196.2(CD96):c.*1801G>A http://identifiers.org/clinvar/335629 ^@ NM_001029883.2(C2orf71):c.*399C>T http://identifiers.org/clinvar/342676 ^@ NM_020754.3(ARHGAP31):c.4110G>A (p.Lys1370=) http://identifiers.org/clinvar/335679 ^@ NM_004304.4(ALK):c.*185C>T http://identifiers.org/clinvar/343615 ^@ NM_001184.3(ATR):c.2503T>C (p.Leu835=) http://identifiers.org/clinvar/343815 ^@ NM_174878.2(CLRN1):c.*115G>A http://identifiers.org/clinvar/335829 ^@ NM_014946.3(SPAST):c.484G>A (p.Val162Ile) http://identifiers.org/clinvar/343915 ^@ NM_000060.4(BTD):c.*57T>A http://identifiers.org/clinvar/335579 ^@ NM_001029883.2(C2orf71):c.*2584C>T http://identifiers.org/clinvar/344065 ^@ NM_001041.3(SI):c.691A>G (p.Thr231Ala) http://identifiers.org/clinvar/344115 ^@ NM_005025.4(SERPINI1):c.-283C>T http://identifiers.org/clinvar/354481 ^@ NM_004385.4(VCAN):c.*883_*885delCAA http://identifiers.org/clinvar/357521 ^@ NM_018100.3(EFHC1):c.*2164G>A http://identifiers.org/clinvar/351084 ^@ NM_022464.4(SIL1):c.487C>T (p.Pro163Ser) http://identifiers.org/clinvar/355482 ^@ NM_017651.4(AHI1):c.*1288T>C http://identifiers.org/clinvar/351434 ^@ NM_054027.4(ANKH):c.*3559G>C http://identifiers.org/clinvar/351534 ^@ NM_006846.3(SPINK5):c.2666+4C>T http://identifiers.org/clinvar/351734 ^@ NM_024577.3(SH3TC2):c.*9972T>C http://identifiers.org/clinvar/351584 ^@ NM_024577.3(SH3TC2):c.*20773G>T http://identifiers.org/clinvar/351784 ^@ NM_024577.3(SH3TC2):c.*6623G>A http://identifiers.org/clinvar/359060 ^@ NM_018238.3(AGK):c.637T>C (p.Ser213Pro) http://identifiers.org/clinvar/351984 ^@ NM_000440.2(PDE6A):c.1952A>G (p.Asn651Ser) http://identifiers.org/clinvar/359260 ^@ NM_014141.5(CNTNAP2):c.*3928C>T http://identifiers.org/clinvar/359360 ^@ NM_016203.3(PRKAG2):c.-322T>C http://identifiers.org/clinvar/359460 ^@ NM_058246.3(DNAJB6):c.*118G>A http://identifiers.org/clinvar/359610 ^@ NM_001277115.1(DNAH11):c.2156A>G (p.Asn719Ser) http://identifiers.org/clinvar/352034 ^@ NM_000112.3(SLC26A2):c.*205G>A http://identifiers.org/clinvar/359660 ^@ NM_001277115.1(DNAH11):c.8572G>A (p.Gly2858Ser) http://identifiers.org/clinvar/359760 ^@ NM_032581.3(FAM126A):c.*384A>G http://identifiers.org/clinvar/356471 ^@ NM_003322.5(TULP1):c.499+12G>C http://identifiers.org/clinvar/356571 ^@ NM_001145717.1(PNPLA1):c.962G>A (p.Arg321Lys) http://identifiers.org/clinvar/356621 ^@ NM_005943.5(MOCS1):c.*1592C>G http://identifiers.org/clinvar/356721 ^@ NM_002098.5(GUCA1B):c.*477C>T http://identifiers.org/clinvar/356921 ^@ NM_006502.2(POLH):c.*639G>A http://identifiers.org/clinvar/360310 ^@ NM_014855.2(AP5Z1):c.417G>A (p.Ala139=) http://identifiers.org/clinvar/356971 ^@ NM_006502.2(POLH):c.*2812_*2820delGTAATCCCAinsCC http://identifiers.org/clinvar/360360 ^@ NM_014855.2(AP5Z1):c.*734G>C http://identifiers.org/clinvar/357071 ^@ NM_020745.3(AARS2):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/357121 ^@ NM_001024630.3(RUNX2):c.*2001G>A http://identifiers.org/clinvar/357171 ^@ NM_012120.2(CD2AP):c.992T>A (p.Leu331His) http://identifiers.org/clinvar/357321 ^@ NM_003221.3(TFAP2B):c.*1925G>T http://identifiers.org/clinvar/357421 ^@ NM_138694.3(PKHD1):c.8887G>A (p.Val2963Ile) http://identifiers.org/clinvar/357571 ^@ NM_001723.5(DST):c.4734G>A (p.Glu1578=) http://identifiers.org/clinvar/357621 ^@ NM_001723.5(DST):c.98T>C (p.Leu33Ser) http://identifiers.org/clinvar/361450 ^@ NM_001385.2(DPYS):c.817A>G (p.Ile273Val) http://identifiers.org/clinvar/361500 ^@ NM_001715.2(BLK):c.*176C>T http://identifiers.org/clinvar/361709 ^@ NM_014846.3(WASHC5):c.*40delA http://identifiers.org/clinvar/363798 ^@ NM_000318.2(PEX2):c.*1194A>G http://identifiers.org/clinvar/299851 ^@ NM_021252.4(RAB18):c.*1943G>A http://identifiers.org/clinvar/306355 ^@ NM_012193.3(FZD4):c.*3792A>T http://identifiers.org/clinvar/363998 ^@ NM_177965.3(C8orf37):c.*383C>T http://identifiers.org/clinvar/306405 ^@ NM_012193.3(FZD4):c.1440A>G (p.Lys480=) http://identifiers.org/clinvar/361099 ^@ NM_017890.4(VPS13B):c.*140G>A http://identifiers.org/clinvar/363948 ^@ NM_018444.3(PDP1):c.*368C>G http://identifiers.org/clinvar/306655 ^@ NM_139319.2(SLC17A8):c.*1520_*1521dupTT http://identifiers.org/clinvar/364398 ^@ NM_005502.3(ABCA1):c.4760A>G (p.Lys1587Arg) http://identifiers.org/clinvar/300301 ^@ NM_018055.4(NODAL):c.550C>T (p.Pro184Ser) http://identifiers.org/clinvar/364448 ^@ NM_005502.3(ABCA1):c.1055-7T>C http://identifiers.org/clinvar/364498 ^@ NM_001079802.1(FKTN):c.*1133A>G http://identifiers.org/clinvar/364348 ^@ NM_005502.3(ABCA1):c.*1476A>G http://identifiers.org/clinvar/307155 ^@ NM_001681.3(ATP2A2):c.-167C>T http://identifiers.org/clinvar/300501 ^@ NM_001042465.2(PSAP):c.*574G>C http://identifiers.org/clinvar/300551 ^@ NM_004273.4(CHST3):c.-265C>G http://identifiers.org/clinvar/364698 ^@ NM_015404.3(WHRN):c.549G>A (p.Arg183=) http://identifiers.org/clinvar/364798 ^@ NM_000177.4(GSN):c.316G>A (p.Gly106Arg) http://identifiers.org/clinvar/300751 ^@ NM_002658.4(PLAU):c.602G>T (p.Arg201Leu) http://identifiers.org/clinvar/364598 ^@ NM_005592.3(MUSK):c.206+10C>T http://identifiers.org/clinvar/300851 ^@ NM_012330.3(KAT6B):c.-424_-419dupTGGCGG http://identifiers.org/clinvar/300951 ^@ NM_002247.3(KCNMA1):c.*488C>A http://identifiers.org/clinvar/364898 ^@ NM_002316.3(LMX1B):c.*230C>T http://identifiers.org/clinvar/309194 ^@ NM_000217.2(KCNA1):c.*2758G>A http://identifiers.org/clinvar/309244 ^@ NM_000486.5(AQP2):c.*842C>T http://identifiers.org/clinvar/309544 ^@ NM_002282.3(KRT83):c.147C>A (p.Gly49=) http://identifiers.org/clinvar/309794 ^@ NM_002206.2(ITGA7):c.904G>A (p.Ala302Thr) http://identifiers.org/clinvar/302340 ^@ NM_002906.3(RDX):c.*156A>G http://identifiers.org/clinvar/302440 ^@ NM_001931.4(DLAT):c.-471C>T http://identifiers.org/clinvar/302490 ^@ NM_003002.3(SDHD):c.*532A>T http://identifiers.org/clinvar/310144 ^@ NM_001038.5(SCNN1A):c.978C>T (p.Asn326=) http://identifiers.org/clinvar/310194 ^@ NM_002076.3(GNS):c.*574G>A http://identifiers.org/clinvar/302840 ^@ NM_005188.3(CBL):c.*3854G>A http://identifiers.org/clinvar/314277 ^@ NM_000428.2(LTBP2):c.4089C>T (p.Asn1363=) http://identifiers.org/clinvar/314627 ^@ NM_004863.3(SPTLC2):c.*2314C>T http://identifiers.org/clinvar/322262 ^@ NM_000430.3(PAFAH1B1):c.618T>A (p.His206Gln) http://identifiers.org/clinvar/322312 ^@ NM_000430.3(PAFAH1B1):c.*2862G>A http://identifiers.org/clinvar/322462 ^@ NM_005148.3(UNC119):c.526G>A (p.Asp176Asn) http://identifiers.org/clinvar/314827 ^@ NM_018319.3(TDP1):c.716A>G (p.His239Arg) http://identifiers.org/clinvar/322512 ^@ NM_001045.5(SLC6A4):c.*1329G>A http://identifiers.org/clinvar/322712 ^@ NM_145068.3(TRPV3):c.*1625C>G http://identifiers.org/clinvar/314977 ^@ NM_004239.4(TRIP11):c.405T>C (p.Ala135=) http://identifiers.org/clinvar/322762 ^@ NM_145068.3(TRPV3):c.1698G>A (p.Thr566=) http://identifiers.org/clinvar/322962 ^@ NM_001004334.3(GPR179):c.*304A>G http://identifiers.org/clinvar/323012 ^@ NM_001004334.3(GPR179):c.2248T>A (p.Ser750Thr) http://identifiers.org/clinvar/323162 ^@ NM_002230.2(JUP):c.2167_2172delGACTAC (p.Asp723_Tyr724del) http://identifiers.org/clinvar/323262 ^@ NM_012232.5(CAVIN1):c.*1479G>A http://identifiers.org/clinvar/313777 ^@ NM_000347.5(SPTB):c.646C>T (p.Arg216Trp) http://identifiers.org/clinvar/313827 ^@ NM_002382.4(MAX):c.-110_-107dupAGTG http://identifiers.org/clinvar/367727 ^@ NM_080632.2(UPF3B):c.*395G>A http://identifiers.org/clinvar/315816 ^@ NM_002225.3(IVD):c.*809G>A http://identifiers.org/clinvar/313927 ^@ NM_015346.3(ZFYVE26):c.443G>C (p.Arg148Pro) http://identifiers.org/clinvar/315866 ^@ NM_144508.4(KNL1):c.5235G>T (p.Glu1745Asp) http://identifiers.org/clinvar/367877 ^@ NM_002351.4(SH2D1A):c.*257A>T http://identifiers.org/clinvar/367927 ^@ NM_004840.2(ARHGEF6):c.*1141G>T http://identifiers.org/clinvar/316016 ^@ NM_000119.2(EPB42):c.1255A>C (p.Ile419Leu) http://identifiers.org/clinvar/314227 ^@ NM_182894.2(VSX2):c.*1521T>C http://identifiers.org/clinvar/368277 ^@ NM_022567.2(NYX):c.*414C>T http://identifiers.org/clinvar/324101 ^@ NM_000088.3(COL1A1):c.3424-6C>A http://identifiers.org/clinvar/314427 ^@ NM_017791.2(FLVCR2):c.*734delG http://identifiers.org/clinvar/316466 ^@ NM_031226.2(CYP19A1):c.*166T>A http://identifiers.org/clinvar/314477 ^@ NM_004452.3(ESRRB):c.-236C>T http://identifiers.org/clinvar/324258 ^@ NM_018488.3(TBX4):c.1070C>T (p.Ala357Val) http://identifiers.org/clinvar/314527 ^@ NM_013382.5(POMT2):c.*1337C>T http://identifiers.org/clinvar/324360 ^@ NM_000789.3(ACE):c.164C>T (p.Ser55Phe) http://identifiers.org/clinvar/368727 ^@ NM_153252.4(BRWD3):c.2184G>A (p.Ala728=) http://identifiers.org/clinvar/314727 ^@ NM_000153.3(GALC):c.*1588T>G http://identifiers.org/clinvar/324910 ^@ NM_000346.3(SOX9):c.27G>A (p.Lys9=) http://identifiers.org/clinvar/325110 ^@ NM_000747.2(CHRNB1):c.*71C>T http://identifiers.org/clinvar/315916 ^@ NM_138477.2(CDAN1):c.*142A>G http://identifiers.org/clinvar/316216 ^@ NM_001482.2(GATM):c.-274C>T http://identifiers.org/clinvar/316266 ^@ NM_000338.2(SLC12A1):c.2199G>A (p.Ala733=) http://identifiers.org/clinvar/316366 ^@ NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) http://identifiers.org/clinvar/316416 ^@ NM_014985.3(CEP152):c.3378C>T (p.Ala1126=) http://identifiers.org/clinvar/373677 ^@ NM_005270.4(GLI2):c.649C>G (p.Arg217Gly) http://identifiers.org/clinvar/372669 ^@ NM_006516.2(SLC2A1):c.1256G>T (p.Gly419Val) http://identifiers.org/clinvar/373077 ^@ NM_005633.3(SOS1):c.1880T>G (p.Phe627Cys) http://identifiers.org/clinvar/372977 ^@ NM_001165963.1(SCN1A):c.2941C>A (p.Leu981Ile) http://identifiers.org/clinvar/373227 ^@ NM_005051.2(QARS):c.1774G>C (p.Val592Leu) http://identifiers.org/clinvar/373377 ^@ NM_002397.4(MEF2C):c.93G>T (p.Lys31Asn) http://identifiers.org/clinvar/372617 ^@ NM_004333.4(BRAF):c.398C>T (p.Ser133Leu) http://identifiers.org/clinvar/373327 ^@ NM_006772.2(SYNGAP1):c.490C>T (p.Arg164Ter) http://identifiers.org/clinvar/372357 ^@ NM_001193536.1(DOCK8):c.3815A>G (p.Tyr1272Cys) http://identifiers.org/clinvar/372408 ^@ NM_130799.2(MEN1):c.773_775dupAGC (p.Gln258_Leu259insGln) http://identifiers.org/clinvar/373577 ^@ NM_015531.5(C2CD3):c.2663G>A (p.Arg888Gln) http://identifiers.org/clinvar/373177 ^@ NM_001082538.2(TCTN1):c.1387T>C (p.Trp463Arg) http://identifiers.org/clinvar/373727 ^@ NM_002334.3(LRP4):c.3729_3730delCAinsTT (p.Asn1244Tyr) http://identifiers.org/clinvar/372874 ^@ NM_000260.3(MYO7A):c.5636+2T>A http://identifiers.org/clinvar/373127 ^@ NM_001271.3(CHD2):c.1462C>T (p.Gln488Ter) http://identifiers.org/clinvar/373277 ^@ NM_000548.4(TSC2):c.1214A>T (p.Glu405Val) http://identifiers.org/clinvar/372926 ^@ NM_002755.3(MAP2K1):c.179_193delTGGGAGAACTGAAGG (p.Val60_Lys64del) http://identifiers.org/clinvar/372515 ^@ NM_016630.6(SPG21):c.736C>T (p.Arg246Ter) http://identifiers.org/clinvar/373477 ^@ NM_020988.2(GNAO1):c.620C>A (p.Ser207Tyr) http://identifiers.org/clinvar/372567 ^@ NM_002755.3(MAP2K1):c.1172C>T (p.Ala391Val) http://identifiers.org/clinvar/373627 ^@ NM_177550.4(SLC13A5):c.1330C>T (p.Pro444Ser) http://identifiers.org/clinvar/373527 ^@ NM_001271.3(CHD2):c.5392G>A (p.Asp1798Asn) http://identifiers.org/clinvar/373427 ^@ NM_000018.3(ACADVL):c.1730_1740delCCATGGTGGTG (p.Ala577Glyfs) http://identifiers.org/clinvar/373027 ^@ NM_001271043.2(NFIX):c.583+1G>A http://identifiers.org/clinvar/372823 ^@ NM_001429.3(EP300):c.5483T>C (p.Leu1828Pro) http://identifiers.org/clinvar/372462 ^@ NM_000444.5(PHEX):c.1768+2dupT http://identifiers.org/clinvar/374130 ^@ NM_001099404.1(SCN5A):c.1255C>T (p.Gln419Ter) http://identifiers.org/clinvar/374180 ^@ NM_138694.3(PKHD1):c.5081dupG (p.Val1695Cysfs) http://identifiers.org/clinvar/374030 ^@ NM_032043.2(BRIP1):c.3413A>G (p.Asp1138Gly) http://identifiers.org/clinvar/374080 ^@ NC_012920.1:m.14598T>C http://identifiers.org/clinvar/375323 ^@ NM_000500.7(CYP21A2):c.830_841delTCCTGGAAGGGC (p.Leu277_Gly280del) http://identifiers.org/clinvar/375374 ^@ NM_138615.2(DHX30):c.1478G>A (p.Arg493His) http://identifiers.org/clinvar/375429 ^@ NM_001453.2(FOXC1):c.718_719delCT (p.Leu240Valfs) http://identifiers.org/clinvar/375495 ^@ NM_001005463.2(EBF3):c.196A>G (p.Asn66Asp) http://identifiers.org/clinvar/375548 ^@ NM_004315.5(ASAH1):c.458A>G (p.Tyr153Cys) http://identifiers.org/clinvar/375615 ^@ NM_006772.2(SYNGAP1):c.1908_1909delTT (p.Ser637Glnfs) http://identifiers.org/clinvar/375666 ^@ NM_001166694.1(CHRNA3):c.1390-2867C>T http://identifiers.org/clinvar/375760 ^@ NM_015295.2(SMCHD1):c.1034A>G (p.Gln345Arg) http://identifiers.org/clinvar/375810 ^@ NM_000527.4(LDLR):c.1187delG (p.Gly396Alafs) http://identifiers.org/clinvar/375860 ^@ NM_000384.2(APOB):c.1648G>C (p.Asp550His) http://identifiers.org/clinvar/375913 ^@ NC_000004.11:g.55593612_55593612delGTT http://identifiers.org/clinvar/387567 ^@ NM_001256850.1(TTN):c.8184C>T (p.Val2728=) http://identifiers.org/clinvar/385778 ^@ NM_000179.2(MSH6):c.457+14C>A http://identifiers.org/clinvar/385878 ^@ NM_000179.2(MSH6):c.1005T>C (p.Asn335=) http://identifiers.org/clinvar/392595 ^@ NM_001135659.2(NRXN1):c.1314G>A (p.Thr438=) http://identifiers.org/clinvar/389856 ^@ NM_002880.3(RAF1):c.435G>T (p.Thr145=) http://identifiers.org/clinvar/392695 ^@ NM_015120.4(ALMS1):c.767+17G>T http://identifiers.org/clinvar/379991 ^@ NM_015929.3(LIPT1):c.565T>C (p.Leu189=) http://identifiers.org/clinvar/392495 ^@ NM_014946.3(SPAST):c.19C>A (p.Arg7=) http://identifiers.org/clinvar/384038 ^@ NM_015340.3(LARS2):c.2238C>T (p.Asp746=) http://identifiers.org/clinvar/392645 ^@ NM_139125.3(MASP1):c.*5808C>T http://identifiers.org/clinvar/381984 ^@ NM_198056.2(SCN5A):c.5511C>T (p.Asn1837=) http://identifiers.org/clinvar/381884 ^@ NM_017875.2(SLC25A38):c.276+13C>A http://identifiers.org/clinvar/389506 ^@ NM_005506.3(SCARB2):c.1089T>C (p.His363=) http://identifiers.org/clinvar/392795 ^@ NM_005859.4(PURA):c.685A>T (p.Lys229Ter) http://identifiers.org/clinvar/385428 ^@ NM_002495.3(NDUFS4):c.150A>G (p.Thr50=) http://identifiers.org/clinvar/388167 ^@ NM_014423.3(AFF4):c.1592G>A (p.Arg531Gln) http://identifiers.org/clinvar/384878 ^@ NM_018341.2(ERMARD):c.265C>A (p.Gln89Lys) http://identifiers.org/clinvar/388717 ^@ NM_000258.2(MYL3):c.501C>T (p.Asp167=) http://identifiers.org/clinvar/385678 ^@ NM_005051.2(QARS):c.1295+20G>C http://identifiers.org/clinvar/384828 ^@ NM_033071.3(SYNE1):c.5122-11G>T http://identifiers.org/clinvar/383637 ^@ NM_018475.4(TMEM165):c.899-11C>G http://identifiers.org/clinvar/391156 ^@ NM_000722.3(CACNA2D1):c.2869C>T (p.Leu957=) http://identifiers.org/clinvar/392895 ^@ NM_000535.6(PMS2):c.1893G>A (p.Gln631=) http://identifiers.org/clinvar/389556 ^@ NM_000535.6(PMS2):c.1731G>A (p.Lys577=) http://identifiers.org/clinvar/382485 ^@ NM_004959.4(NR5A1):c.1197C>T (p.Ala399=) http://identifiers.org/clinvar/385378 ^@ NM_058246.3(DNAJB6):c.*17G>A http://identifiers.org/clinvar/383687 ^@ NM_138361.5(LRSAM1):c.619+13C>T http://identifiers.org/clinvar/393095 ^@ NM_000445.4(PLEC):c.4825C>T (p.Arg1609Cys) http://identifiers.org/clinvar/382235 ^@ NM_006158.4(NEFL):c.1461G>A (p.Glu487=) http://identifiers.org/clinvar/390406 ^@ NM_022132.4(MCCC2):c.302C>A (p.Ser101Tyr) http://identifiers.org/clinvar/392245 ^@ NM_003829.4(MPDZ):c.2389T>C (p.Ser797Pro) http://identifiers.org/clinvar/390706 ^@ NM_002485.4(NBN):c.2234+12T>C http://identifiers.org/clinvar/392145 ^@ NM_015713.4(RRM2B):c.-2C>T http://identifiers.org/clinvar/383426 ^@ NM_002485.4(NBN):c.38-20T>A http://identifiers.org/clinvar/392345 ^@ NM_002290.4(LAMA4):c.4960+9A>G http://identifiers.org/clinvar/388067 ^@ NM_002290.4(LAMA4):c.3225A>G (p.Pro1075=) http://identifiers.org/clinvar/385228 ^@ NM_020822.2(KCNT1):c.2166G>A (p.Leu722=) http://identifiers.org/clinvar/387717 ^@ NM_017617.4(NOTCH1):c.4718C>T (p.Thr1573Met) http://identifiers.org/clinvar/389956 ^@ NM_017617.4(NOTCH1):c.2868C>T (p.Asn956=) http://identifiers.org/clinvar/385928 ^@ NM_001003800.1(BICD2):c.1128G>A (p.Thr376=) http://identifiers.org/clinvar/384928 ^@ NM_003165.3(STXBP1):c.1461+12G>A http://identifiers.org/clinvar/388117 ^@ NM_020822.2(KCNT1):c.477C>G (p.Ser159=) http://identifiers.org/clinvar/392995 ^@ NM_000494.3(COL17A1):c.1910C>A (p.Pro637His) http://identifiers.org/clinvar/385078 ^@ NM_007171.3(POMT1):c.1765-19A>G http://identifiers.org/clinvar/133020 ^@ NM_000540.2(RYR1):c.11778G>A (p.Gln3926=) http://identifiers.org/clinvar/133070 ^@ NM_000540.2(RYR1):c.14471T>C (p.Leu4824Pro) http://identifiers.org/clinvar/134662 ^@ NM_003482.3(KMT2D):c.1579C>T (p.Pro527Ser) http://identifiers.org/clinvar/134713 ^@ NM_003482.3(KMT2D):c.12800C>T (p.Pro4267Leu) http://identifiers.org/clinvar/134763 ^@ NM_170606.2(KMT2C):c.6634C>G (p.Pro2212Ala) http://identifiers.org/clinvar/134813 ^@ NM_170606.2(KMT2C):c.12964C>T (p.Pro4322Ser) http://identifiers.org/clinvar/134867 ^@ NM_001128425.1(MUTYH):c.1547C>T (p.Pro516Leu) http://identifiers.org/clinvar/134917 ^@ NM_017617.4(NOTCH1):c.2473A>G (p.Thr825Ala) http://identifiers.org/clinvar/134967 ^@ NM_024408.3(NOTCH2):c.3625T>G (p.Phe1209Val) http://identifiers.org/clinvar/135017 ^@ NM_006206.4(PDGFRA):c.46A>T (p.Thr16Ser) http://identifiers.org/clinvar/135068 ^@ NM_000535.6(PMS2):c.1267G>A (p.Ala423Thr) http://identifiers.org/clinvar/135119 ^@ NM_000321.2(RB1):c.1573G>A (p.Ala525Thr) http://identifiers.org/clinvar/135170 ^@ NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln) http://identifiers.org/clinvar/135200 ^@ NM_014159.6(SETD2):c.5369G>C (p.Arg1790Pro) http://identifiers.org/clinvar/135251 ^@ NM_001128849.1(SMARCA4):c.589C>T (p.Pro197Ser) http://identifiers.org/clinvar/135301 ^@ NM_001127208.2(TET2):c.959_961delAAC (p.Gln321del) http://identifiers.org/clinvar/135351 ^@ NM_003820.3(TNFRSF14):c.405C>T (p.Cys135=) http://identifiers.org/clinvar/135402 ^@ NM_000369.2(TSHR):c.697G>A (p.Val233Met) http://identifiers.org/clinvar/135452 ^@ NM_000553.4(WRN):c.1149G>T (p.Leu383Phe) http://identifiers.org/clinvar/135502 ^@ NM_000545.6(HNF1A):c.1309+238G>A http://identifiers.org/clinvar/135552 ^@ NM_002253.2(KDR):c.-1G>T http://identifiers.org/clinvar/135627 ^@ NM_001042603.2(KDM5A):c.4522C>T (p.Arg1508Trp) http://identifiers.org/clinvar/135687 ^@ NM_000038.5(APC):c.2262T>G (p.Val754=) http://identifiers.org/clinvar/135738 ^@ NM_000051.3(ATM):c.192A>G (p.Leu64=) http://identifiers.org/clinvar/135793 ^@ NM_000059.3(BRCA2):c.2211A>C (p.Ala737=) http://identifiers.org/clinvar/135847 ^@ NM_000249.3(MLH1):c.1502T>G (p.Ile501Ser) http://identifiers.org/clinvar/135897 ^@ NM_000264.3(PTCH1):c.3867C>T (p.Asp1289=) http://identifiers.org/clinvar/135947 ^@ NM_000535.6(PMS2):c.883C>T (p.Arg295Trp) http://identifiers.org/clinvar/135999 ^@ NM_001166110.1(PALLD):c.1757G>A (p.Gly586Glu) http://identifiers.org/clinvar/136049 ^@ NM_004329.2(BMPR1A):c.1474-9A>G http://identifiers.org/clinvar/136100 ^@ NM_020975.4(RET):c.1437C>T (p.Ala479=) http://identifiers.org/clinvar/184263 ^@ NM_001042492.2(NF1):c.7368A>G (p.Lys2456=) http://identifiers.org/clinvar/185402 ^@ NM_001042492.2(NF1):c.7526C>T (p.Pro2509Leu) http://identifiers.org/clinvar/185702 ^@ NM_007294.3(BRCA1):c.5238C>G (p.His1746Gln) http://identifiers.org/clinvar/185202 ^@ NM_007294.3(BRCA1):c.3965A>C (p.Lys1322Thr) http://identifiers.org/clinvar/185302 ^@ NM_007294.3(BRCA1):c.3918G>C (p.Leu1306Phe) http://identifiers.org/clinvar/186252 ^@ NM_007294.3(BRCA1):c.3758C>G (p.Ser1253Cys) http://identifiers.org/clinvar/184013 ^@ NM_007294.3(BRCA1):c.3435T>C (p.Val1145=) http://identifiers.org/clinvar/185002 ^@ NM_000546.5(TP53):c.657C>A (p.Pro219=) http://identifiers.org/clinvar/186002 ^@ NM_005359.5(SMAD4):c.1571_1574delGGATins19 (p.?) http://identifiers.org/clinvar/185602 ^@ NM_000455.4(STK11):c.334C>G (p.Gln112Glu) http://identifiers.org/clinvar/184163 ^@ NM_000455.4(STK11):c.1235A>G (p.Asn412Ser) http://identifiers.org/clinvar/185552 ^@ NM_007194.3(CHEK2):c.661_664dupATCA (p.Met222Asnfs) http://identifiers.org/clinvar/187797 ^@ NM_005215.3(DCC):c.1140+1G>A (p.V329GfsTer15) http://identifiers.org/clinvar/187876 ^@ NM_005957.4(MTHFR):c.548G>A (p.Arg183Gln) http://identifiers.org/clinvar/187926 ^@ NM_004409.4(DMPK):c.*224_*226[158] http://identifiers.org/clinvar/187976 ^@ NM_004409.4(DMPK):c.*224_*226[397] http://identifiers.org/clinvar/188026 ^@ NM_004409.4(DMPK):c.*224_*226[74] http://identifiers.org/clinvar/188178 ^@ NM_002156.4(HSPD1):c.794A>G (p.Asn265Ser) http://identifiers.org/clinvar/188283 ^@ NM_001166110.1(PALLD):c.1967A>G (p.Asn656Ser) http://identifiers.org/clinvar/188229 ^@ NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) http://identifiers.org/clinvar/188335 ^@ NM_001080463.1(DYNC2H1):c.10258C>G (p.Pro3420Ala) http://identifiers.org/clinvar/188127 ^@ NM_198309.3(TTC8):c.454G>C (p.Gly152Arg) http://identifiers.org/clinvar/188076 ^@ NM_024675.3(PALB2):c.85A>G (p.Ser29Gly) http://identifiers.org/clinvar/188391 ^@ NM_032043.2(BRIP1):c.2447G>A (p.Trp816Ter) http://identifiers.org/clinvar/188546 ^@ NM_000256.3(MYBPC3):c.1226+54C>T http://identifiers.org/clinvar/188646 ^@ NM_000257.3(MYH7):c.5560-74C>T http://identifiers.org/clinvar/188596 ^@ NM_000257.3(MYH7):c.530C>T (p.Thr177Ile) http://identifiers.org/clinvar/188696 ^@ NM_001018005.1(TPM1):c.413A>G (p.Glu138Gly) http://identifiers.org/clinvar/188446 ^@ NM_001943.4(DSG2):c.523+1G>A http://identifiers.org/clinvar/188496 ^@ NM_001110792.1(MECP2):c.738_752delTGAGGGGGGTGGGGC (p.Glu247_Ala251del) http://identifiers.org/clinvar/188846 ^@ NM_000228.2(LAMB3):c.565-2A>G http://identifiers.org/clinvar/188746 ^@ NM_138694.3(PKHD1):c.3766delC (p.Gln1256Argfs) http://identifiers.org/clinvar/189098 ^@ NM_138694.3(PKHD1):c.1880T>A (p.Met627Lys) http://identifiers.org/clinvar/188897 ^@ NM_000466.2(PEX1):c.643_647delACCAA (p.Thr215Alafs) http://identifiers.org/clinvar/188796 ^@ NM_005476.5(GNE):c.612G>A (p.Trp204Ter) http://identifiers.org/clinvar/188947 ^@ NM_000053.3(ATP7B):c.4051C>T (p.Gln1351Ter) http://identifiers.org/clinvar/188997 ^@ NM_000153.3(GALC):c.1591C>T (p.Arg531Cys) http://identifiers.org/clinvar/189048 ^@ NM_000057.3(BLM):c.3028delG (p.Asp1010Metfs) http://identifiers.org/clinvar/242614 ^@ NM_004990.3(MARS):c.1700C>T (p.Ser567Leu) http://identifiers.org/clinvar/189777 ^@ NM_001110792.1(MECP2):c.62+2_62+3delTG http://identifiers.org/clinvar/190011 ^@ NM_001165963.1(SCN1A):c.4985C>T (p.Ala1662Val) http://identifiers.org/clinvar/189911 ^@ NM_001165963.1(SCN1A):c.4573C>T (p.Arg1525Ter) http://identifiers.org/clinvar/189961 ^@ NM_001165963.1(SCN1A):c.2792G>C (p.Arg931Pro) http://identifiers.org/clinvar/190146 ^@ NM_000124.3(ERCC6):c.1280dupT (p.Ser429Lysfs) http://identifiers.org/clinvar/190196 ^@ NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) http://identifiers.org/clinvar/190252 ^@ NM_005055.4(RAPSN):c.1083_1084dupCT (p.Tyr362Serfs) http://identifiers.org/clinvar/190330 ^@ NM_014423.3(AFF4):c.761C>G (p.Thr254Ser) http://identifiers.org/clinvar/190387 ^@ NM_016343.3(CENPF):c.8692C>T (p.Arg2898Ter) http://identifiers.org/clinvar/228863 ^@ NM_001018116.2(CAVIN4):c.920G>C (p.Ser307Thr) http://identifiers.org/clinvar/228563 ^@ NM_015404.3(WHRN):c.2510G>A (p.Arg837His) http://identifiers.org/clinvar/229313 ^@ NM_138691.2(TMC1):c.1018A>G (p.Met340Val) http://identifiers.org/clinvar/229113 ^@ NM_173591.3(OTOGL):c.2479A>G (p.Thr827Ala) http://identifiers.org/clinvar/228663 ^@ NM_001201397.1(EDNRB):c.7A>T (p.Lys3Ter) http://identifiers.org/clinvar/228913 ^@ NM_000257.3(MYH7):c.4832C>T (p.Ala1611Val) http://identifiers.org/clinvar/228263 ^@ NM_144997.5(FLCN):c.553T>C (p.Ser185Pro) http://identifiers.org/clinvar/228963 ^@ NM_016239.3(MYO15A):c.5893C>T (p.Arg1965Cys) http://identifiers.org/clinvar/229063 ^@ NM_001042492.2(NF1):c.5509G>A (p.Asp1837Asn) http://identifiers.org/clinvar/228613 ^@ NM_023036.4(DNAI2):c.571C>T (p.Pro191Ser) http://identifiers.org/clinvar/228813 ^@ NM_144612.6(LOXHD1):c.1640G>A (p.Arg547His) http://identifiers.org/clinvar/228513 ^@ NM_001039213.3(CEACAM16):c.1186A>G (p.Thr396Ala) http://identifiers.org/clinvar/228763 ^@ NM_000219.5(KCNE1):c.292C>G (p.Arg98Gly) http://identifiers.org/clinvar/229013 ^@ NM_003803.3(MYOM1):c.1175_1339[3] (p.Asn446_Gly447insValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspLysPheAspValSerPheGlyArgGluGlyGluThrMetSerLeuGlyCysArgValValIleThrProGluIleLysHisPheGlnProGluIleGlnTrpTyrArgAsnValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspL...(Total 360)) http://identifiers.org/clinvar/234307 ^@ NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn) http://identifiers.org/clinvar/234429 ^@ NM_004333.4(BRAF):c.259A>G (p.Ser87Gly) http://identifiers.org/clinvar/234581 ^@ NM_002485.4(NBN):c.38-3C>G http://identifiers.org/clinvar/234479 ^@ NM_000834.3(GRIN2B):c.1970A>G (p.Glu657Gly) http://identifiers.org/clinvar/234359 ^@ NM_000243.2(MEFV):c.577G>A (p.Ala193Thr) http://identifiers.org/clinvar/234530 ^@ NM_000214.2(JAG1):c.860A>G (p.Asn287Ser) http://identifiers.org/clinvar/230654 ^@ NM_000465.3(BARD1):c.2110A>G (p.Ser704Gly) http://identifiers.org/clinvar/231254 ^@ NM_000465.3(BARD1):c.1729C>T (p.Leu577=) http://identifiers.org/clinvar/230904 ^@ NM_000465.3(BARD1):c.1626A>C (p.Leu542=) http://identifiers.org/clinvar/229715 ^@ NM_000465.3(BARD1):c.294T>A (p.Asn98Lys) http://identifiers.org/clinvar/233594 ^@ NM_000465.3(BARD1):c.55G>T (p.Glu19Ter) http://identifiers.org/clinvar/233494 ^@ NM_000251.2(MSH2):c.-68-193C>A http://identifiers.org/clinvar/233897 ^@ NM_000038.5(APC):c.489G>C (p.Gln163His) http://identifiers.org/clinvar/233344 ^@ NM_000038.5(APC):c.703T>C (p.Leu235=) http://identifiers.org/clinvar/230854 ^@ NM_000038.5(APC):c.1531G>T (p.Gly511Ter) http://identifiers.org/clinvar/233694 ^@ NM_000038.5(APC):c.2898T>C (p.Ser966=) http://identifiers.org/clinvar/263979 ^@ NM_001456.3(FLNA):c.3638G>A (p.Gly1213Asp) http://identifiers.org/clinvar/266010 ^@ NM_004621.5(TRPC6):c.304T>A (p.Phe102Ile) http://identifiers.org/clinvar/266087 ^@ NM_033028.4(BBS4):c.1226delG (p.Ser409Thrfs) http://identifiers.org/clinvar/266687 ^@ NM_000059.3(BRCA2):c.224_225insA (p.Ser76Phefs) http://identifiers.org/clinvar/267087 ^@ NM_000059.3(BRCA2):c.846_847delCA (p.Ile283Trpfs) http://identifiers.org/clinvar/266637 ^@ NM_000059.3(BRCA2):c.1454delA (p.Lys485Serfs) http://identifiers.org/clinvar/266737 ^@ NM_000059.3(BRCA2):c.3170delA (p.Lys1057Argfs) http://identifiers.org/clinvar/266787 ^@ NM_000059.3(BRCA2):c.4021dupT (p.Ser1341Phefs) http://identifiers.org/clinvar/266837 ^@ NM_000059.3(BRCA2):c.4912A>T (p.Lys1638Ter) http://identifiers.org/clinvar/266887 ^@ NM_000059.3(BRCA2):c.5653dupT (p.Cys1885Leufs) http://identifiers.org/clinvar/266937 ^@ NM_000059.3(BRCA2):c.6304_6305delGT (p.Val2102Ilefs) http://identifiers.org/clinvar/266987 ^@ NM_000059.3(BRCA2):c.7152delA (p.Val2385Phefs) http://identifiers.org/clinvar/267037 ^@ NM_000059.3(BRCA2):c.7815_7816delTG (p.Cys2605Terfs) http://identifiers.org/clinvar/267137 ^@ NM_000059.3(BRCA2):c.9089delC (p.Thr3030Lysfs) http://identifiers.org/clinvar/266537 ^@ NM_007294.3(BRCA1):c.5230_5237delAGAAACCA (p.Arg1744Profs) http://identifiers.org/clinvar/266487 ^@ NM_007294.3(BRCA1):c.4618_4621delGAAGinsAAA (p.Glu1540Lysfs) http://identifiers.org/clinvar/266437 ^@ NM_007294.3(BRCA1):c.4069G>T (p.Glu1357Ter) http://identifiers.org/clinvar/266387 ^@ NM_007294.3(BRCA1):c.3582_3589delCCATACAC (p.His1195Phefs) http://identifiers.org/clinvar/266337 ^@ NM_007294.3(BRCA1):c.3117_3120delCAGC (p.Ser1040Glnfs) http://identifiers.org/clinvar/266287 ^@ NM_007294.3(BRCA1):c.2648_2649insGGCA (p.Thr884Alafs) http://identifiers.org/clinvar/266237 ^@ NM_007294.3(BRCA1):c.2202dupA (p.Leu735Thrfs) http://identifiers.org/clinvar/266187 ^@ NM_007294.3(BRCA1):c.1779_1785delTATGGAA (p.Met594Serfs) http://identifiers.org/clinvar/266137 ^@ NM_007294.3(BRCA1):c.1104delA (p.Asp369Metfs) http://identifiers.org/clinvar/266587 ^@ NM_007294.3(BRCA1):c.862delA (p.Ser288Alafs) http://identifiers.org/clinvar/267198 ^@ NC_000011.8:g.31234395_31751815del517421 http://identifiers.org/clinvar/267260 ^@ NC_000003.11:g.(?_195756054)_(197344665_?)del http://identifiers.org/clinvar/267338 ^@ NC_000023.10:g.(?_103031918)_(103045531_?)dup http://identifiers.org/clinvar/268197 ^@ NC_000007.13:g.(?_9593631)_(9652744_?)del http://identifiers.org/clinvar/279609 ^@ NM_030813.5(CLPB):c.1700A>G (p.Tyr567Cys) http://identifiers.org/clinvar/290916 ^@ NM_003494.3(DYSF):c.2766C>T (p.Ala922=) http://identifiers.org/clinvar/290966 ^@ NM_024408.3(NOTCH2):c.6251T>A (p.Ile2084Asn) http://identifiers.org/clinvar/291016 ^@ NM_001165927.1(MKS1):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/291066 ^@ NM_001267550.2(TTN):c.26406_26418delCAATGCTGGAAAAinsTGGAAA (p.Asn8803Glyfs) http://identifiers.org/clinvar/291116 ^@ NM_003494.3(DYSF):c.3243C>T (p.Leu1081=) http://identifiers.org/clinvar/291167 ^@ NM_017534.5(MYH2):c.2270T>C (p.Ile757Thr) http://identifiers.org/clinvar/291217 ^@ NM_001927.3(DES):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/291267 ^@ NM_018849.2(ABCB4):c.3355C>G (p.Leu1119Val) http://identifiers.org/clinvar/291382 ^@ NM_001918.3(DBT):c.*8607G>A http://identifiers.org/clinvar/291432 ^@ NM_001918.3(DBT):c.*2619G>A http://identifiers.org/clinvar/291482 ^@ NM_001854.3(COL11A1):c.*715A>G http://identifiers.org/clinvar/291532 ^@ NM_001854.3(COL11A1):c.1630-13T>C http://identifiers.org/clinvar/291582 ^@ NM_015074.3(KIF1B):c.4682G>A (p.Cys1561Tyr) http://identifiers.org/clinvar/293334 ^@ NM_003001.3(SDHC):c.*685C>T http://identifiers.org/clinvar/293584 ^@ NM_000130.4(F5):c.5419+11C>T http://identifiers.org/clinvar/293084 ^@ NM_002241.4(KCNJ10):c.*2520C>T http://identifiers.org/clinvar/293134 ^@ NM_000702.3(ATP1A2):c.2130C>T (p.Ala710=) http://identifiers.org/clinvar/293184 ^@ NM_000702.3(ATP1A2):c.*1815G>C http://identifiers.org/clinvar/293234 ^@ NM_002857.3(PEX19):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/293284 ^@ NM_004550.4(NDUFS2):c.*106_*107dupGT http://identifiers.org/clinvar/293384 ^@ NM_006182.2(DDR2):c.*42C>A http://identifiers.org/clinvar/293434 ^@ NM_004431.4(EPHA2):c.1252G>A (p.Val418Ile) http://identifiers.org/clinvar/293484 ^@ NM_005149.2(TBX19):c.*186G>A http://identifiers.org/clinvar/293534 ^@ NM_006996.2(SLC19A2):c.10C>T (p.Pro4Ser) http://identifiers.org/clinvar/344465 ^@ NM_006580.3(CLDN16):c.*1178C>T http://identifiers.org/clinvar/344515 ^@ NM_015560.2(OPA1):c.*2416C>T http://identifiers.org/clinvar/343765 ^@ NM_000096.3(CP):c.1713+3A>G http://identifiers.org/clinvar/344715 ^@ NM_003242.5(TGFBR2):c.*2332A>C http://identifiers.org/clinvar/336636 ^@ NM_001039348.2(EFEMP1):c.-64C>T http://identifiers.org/clinvar/336736 ^@ NM_032180.2(FAM161A):c.1673G>A (p.Arg558Lys) http://identifiers.org/clinvar/336786 ^@ NM_002056.3(GFPT1):c.*5901delG http://identifiers.org/clinvar/336536 ^@ NM_001135659.2(NRXN1):c.*385G>A http://identifiers.org/clinvar/344315 ^@ NM_020166.4(MCCC1):c.388G>A (p.Gly130Ser) http://identifiers.org/clinvar/344365 ^@ NM_000460.3(THPO):c.*500A>G http://identifiers.org/clinvar/344415 ^@ NM_003722.4(TP63):c.*1702G>A http://identifiers.org/clinvar/336836 ^@ NM_002056.3(GFPT1):c.*2368C>T http://identifiers.org/clinvar/336886 ^@ NM_001002755.2(NFU1):c.*103G>A http://identifiers.org/clinvar/344665 ^@ NM_003242.5(TGFBR2):c.*86A>G http://identifiers.org/clinvar/344765 ^@ NM_015141.3(GPD1L):c.*1862A>G http://identifiers.org/clinvar/346154 ^@ NM_052859.3(RFT1):c.*2350C>T http://identifiers.org/clinvar/337675 ^@ NM_001298.2(CNGA3):c.*418T>C http://identifiers.org/clinvar/346704 ^@ NM_002942.4(ROBO2):c.3137-14G>A http://identifiers.org/clinvar/346854 ^@ NM_033337.2(CAV3):c.*592G>A http://identifiers.org/clinvar/342626 ^@ NM_020754.3(ARHGAP31):c.100+9C>T http://identifiers.org/clinvar/345804 ^@ NM_000094.3(COL7A1):c.7687-6C>T http://identifiers.org/clinvar/347154 ^@ NM_000204.4(CFI):c.1410T>C (p.Ser470=) http://identifiers.org/clinvar/347204 ^@ NM_198506.4(LRIT3):c.*550G>A http://identifiers.org/clinvar/347254 ^@ NM_001963.5(EGF):c.3073G>T (p.Ala1025Ser) http://identifiers.org/clinvar/342726 ^@ NM_020754.3(ARHGAP31):c.*2802G>A http://identifiers.org/clinvar/347504 ^@ NM_152618.2(BBS12):c.1590A>G (p.Leu530=) http://identifiers.org/clinvar/346254 ^@ NM_003392.4(WNT5A):c.*1357A>G http://identifiers.org/clinvar/346354 ^@ NM_001457.3(FLNB):c.6108C>T (p.Ser2036=) http://identifiers.org/clinvar/346504 ^@ NM_000248.3(MITF):c.*48T>C http://identifiers.org/clinvar/348193 ^@ NM_000860.5(HPGD):c.*207G>A http://identifiers.org/clinvar/343665 ^@ NM_031850.3(AGTR1):c.-192G>T http://identifiers.org/clinvar/343715 ^@ NM_032383.4(HPS3):c.2887+19dupT http://identifiers.org/clinvar/343565 ^@ NM_004628.4(XPC):c.2161G>A (p.Glu721Lys) http://identifiers.org/clinvar/343865 ^@ NM_004733.3(SLC33A1):c.*595A>C http://identifiers.org/clinvar/348393 ^@ NM_000128.3(F11):c.*902G>A http://identifiers.org/clinvar/346954 ^@ NM_000097.5(CPOX):c.*939A>G http://identifiers.org/clinvar/348443 ^@ NM_133330.2(NSD2):c.3126C>T (p.His1042=) http://identifiers.org/clinvar/353981 ^@ NM_001104631.1(PDE4D):c.*421A>G http://identifiers.org/clinvar/354081 ^@ NM_001038603.2(MARVELD2):c.454G>A (p.Ala152Thr) http://identifiers.org/clinvar/353831 ^@ NM_002203.3(ITGA2):c.*2653T>G http://identifiers.org/clinvar/362159 ^@ NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) http://identifiers.org/clinvar/358510 ^@ NM_000441.1(SLC26A4):c.*614C>T http://identifiers.org/clinvar/362359 ^@ NM_177924.4(ASAH1):c.*687C>G http://identifiers.org/clinvar/354431 ^@ NM_004385.4(VCAN):c.5836C>T (p.His1946Tyr) http://identifiers.org/clinvar/358660 ^@ NM_014491.3(FOXP2):c.*2970T>A http://identifiers.org/clinvar/354231 ^@ NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) http://identifiers.org/clinvar/354631 ^@ NM_000439.4(PCSK1):c.*597T>C http://identifiers.org/clinvar/354531 ^@ NM_002890.2(RASA1):c.*16T>C http://identifiers.org/clinvar/354731 ^@ NM_001491.2(GCNT2):c.*1672_*1675delTATT http://identifiers.org/clinvar/359110 ^@ NM_000083.2(CLCN1):c.1396A>C (p.Met466Leu) http://identifiers.org/clinvar/354781 ^@ NM_001242957.2(MAK):c.*226G>A http://identifiers.org/clinvar/359310 ^@ NM_000238.3(KCNH2):c.2145+9A>T http://identifiers.org/clinvar/354831 ^@ NM_007214.4(SEC63):c.*3128G>A http://identifiers.org/clinvar/354981 ^@ NM_014028.3(OSTM1):c.*147G>T http://identifiers.org/clinvar/354881 ^@ NM_007214.4(SEC63):c.*411C>T http://identifiers.org/clinvar/363348 ^@ NM_017813.4(IMPAD1):c.*3739C>T http://identifiers.org/clinvar/355132 ^@ NM_001010892.2(RSPH4A):c.*500G>A http://identifiers.org/clinvar/363848 ^@ NM_019098.4(CNGB3):c.*1371G>T http://identifiers.org/clinvar/359860 ^@ NM_004403.2(DFNA5):c.-216C>T http://identifiers.org/clinvar/355432 ^@ NM_006208.2(ENPP1):c.*4586G>A http://identifiers.org/clinvar/360110 ^@ NM_133468.4(BMPER):c.1323C>T (p.Asn441=) http://identifiers.org/clinvar/364648 ^@ NM_000031.5(ALAD):c.463T>C (p.Leu155=) http://identifiers.org/clinvar/364748 ^@ NM_018249.5(CDK5RAP2):c.5235G>C (p.Gln1745His) http://identifiers.org/clinvar/364848 ^@ NM_000550.2(TYRP1):c.-69G>T http://identifiers.org/clinvar/356521 ^@ NM_182548.3(LHFPL5):c.*483T>C http://identifiers.org/clinvar/356671 ^@ NM_005943.5(MOCS1):c.152G>T (p.Arg51Leu) http://identifiers.org/clinvar/361249 ^@ NM_178857.5(RP1L1):c.5589T>A (p.Ala1863=) http://identifiers.org/clinvar/356821 ^@ NM_014780.4(CUL7):c.4625G>A (p.Arg1542Gln) http://identifiers.org/clinvar/361659 ^@ NM_000127.2(EXT1):c.962+8_962+11delTCTG http://identifiers.org/clinvar/357021 ^@ NM_020745.3(AARS2):c.*1811C>T http://identifiers.org/clinvar/361759 ^@ NM_004519.3(KCNQ3):c.*7143A>G http://identifiers.org/clinvar/361809 ^@ NM_004519.3(KCNQ3):c.*4243A>T http://identifiers.org/clinvar/303090 ^@ NM_006918.4(SC5D):c.*3106G>A http://identifiers.org/clinvar/303390 ^@ NM_016952.4(CDON):c.*3210A>G http://identifiers.org/clinvar/303440 ^@ NM_016952.4(CDON):c.*2371_*2376dupCACACA http://identifiers.org/clinvar/311538 ^@ NM_014363.5(SACS):c.5930A>G (p.Lys1977Arg) http://identifiers.org/clinvar/367527 ^@ NM_006415.3(SPTLC1):c.*1226G>T http://identifiers.org/clinvar/367577 ^@ NM_000136.2(FANCC):c.*1968G>A http://identifiers.org/clinvar/311838 ^@ NM_001127217.2(SMAD9):c.*2506_*2511delTAATCT http://identifiers.org/clinvar/311938 ^@ NM_207361.5(FREM2):c.532C>A (p.Gln178Lys) http://identifiers.org/clinvar/312088 ^@ NM_207361.5(FREM2):c.*4504G>A http://identifiers.org/clinvar/312188 ^@ NM_014252.3(SLC25A15):c.*420T>G http://identifiers.org/clinvar/312338 ^@ NM_024570.3(RNASEH2B):c.*246A>G http://identifiers.org/clinvar/298762 ^@ NM_005445.3(SMC3):c.-65T>A http://identifiers.org/clinvar/298812 ^@ NM_001134363.2(RBM20):c.*484C>G http://identifiers.org/clinvar/367677 ^@ NM_000264.3(PTCH1):c.46G>A (p.Gly16Ser) http://identifiers.org/clinvar/364098 ^@ NM_004612.3(TGFBR1):c.479A>G (p.Asn160Ser) http://identifiers.org/clinvar/312738 ^@ NM_000270.3(PNP):c.*254C>T http://identifiers.org/clinvar/298862 ^@ NM_007373.3(SHOC2):c.774A>G (p.Gly258=) http://identifiers.org/clinvar/313977 ^@ NM_000021.3(PSEN1):c.*1958T>C http://identifiers.org/clinvar/299751 ^@ NM_014915.2(ANKRD26):c.1176T>C (p.Tyr392=) http://identifiers.org/clinvar/314377 ^@ NM_001040108.1(MLH3):c.3384T>C (p.Thr1128=) http://identifiers.org/clinvar/299951 ^@ NM_002900.2(RBP3):c.3635C>T (p.Thr1212Ile) http://identifiers.org/clinvar/300001 ^@ NM_000124.3(ERCC6):c.*2237C>T http://identifiers.org/clinvar/314677 ^@ NM_004863.3(SPTLC2):c.620G>T (p.Arg207Leu) http://identifiers.org/clinvar/314777 ^@ NM_018418.4(SPATA7):c.207G>A (p.Ser69=) http://identifiers.org/clinvar/299701 ^@ NM_014317.4(PDSS1):c.1027-7_1027-6delTT http://identifiers.org/clinvar/300201 ^@ NM_033056.3(PCDH15):c.665A>G (p.Tyr222Cys) http://identifiers.org/clinvar/314927 ^@ NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) http://identifiers.org/clinvar/306204 ^@ NM_000260.3(MYO7A):c.*101G>A http://identifiers.org/clinvar/299901 ^@ NM_020975.4(RET):c.2876G>A (p.Arg959Gln) http://identifiers.org/clinvar/300601 ^@ NM_004273.4(CHST3):c.*1185C>G http://identifiers.org/clinvar/300651 ^@ NM_004273.4(CHST3):c.*3565A>G http://identifiers.org/clinvar/300701 ^@ NM_016065.3(MRPS16):c.*741A>T http://identifiers.org/clinvar/306455 ^@ NM_005591.3(MRE11):c.*2258G>C http://identifiers.org/clinvar/300151 ^@ NM_000242.2(MBL2):c.163A>G (p.Thr55Ala) http://identifiers.org/clinvar/300801 ^@ NM_014000.2(VCL):c.*212C>A http://identifiers.org/clinvar/300251 ^@ NM_000417.2(IL2RA):c.753C>T (p.Ile251=) http://identifiers.org/clinvar/309744 ^@ NM_015665.5(AAAS):c.-73G>A http://identifiers.org/clinvar/311138 ^@ NM_001846.3(COL4A2):c.1948C>T (p.Pro650Ser) http://identifiers.org/clinvar/309844 ^@ NM_000456.2(SUOX):c.1586G>A (p.Arg529Gln) http://identifiers.org/clinvar/309944 ^@ NM_004984.2(KIF5A):c.2418G>A (p.Thr806=) http://identifiers.org/clinvar/309994 ^@ NM_000785.3(CYP27B1):c.*76G>A http://identifiers.org/clinvar/310044 ^@ NM_000552.4(VWF):c.7007C>T (p.Pro2336Leu) http://identifiers.org/clinvar/311638 ^@ NM_015972.3(POLR1D):c.-176A>G http://identifiers.org/clinvar/310344 ^@ NM_000239.2(LYZ):c.*418C>A http://identifiers.org/clinvar/311888 ^@ NM_001127217.2(SMAD9):c.*298A>G http://identifiers.org/clinvar/312038 ^@ NM_207361.5(FREM2):c.9238C>T (p.Leu3080=) http://identifiers.org/clinvar/330599 ^@ NM_030957.3(ADAMTS10):c.1803T>C (p.Cys601=) http://identifiers.org/clinvar/312138 ^@ NM_020751.2(COG6):c.828A>C (p.Thr276=) http://identifiers.org/clinvar/337825 ^@ NM_024411.4(PDYN):c.*522C>T http://identifiers.org/clinvar/312238 ^@ NM_003701.3(TNFSF11):c.*48T>C http://identifiers.org/clinvar/337975 ^@ NM_014588.5(VSX1):c.-239G>C http://identifiers.org/clinvar/311038 ^@ NM_001845.5(COL4A1):c.3506-7C>G http://identifiers.org/clinvar/311088 ^@ NM_001845.5(COL4A1):c.-103G>A http://identifiers.org/clinvar/338175 ^@ NM_006892.3(DNMT3B):c.1760-5C>G http://identifiers.org/clinvar/338225 ^@ NM_003098.2(SNTA1):c.-200C>T http://identifiers.org/clinvar/338275 ^@ NM_000687.3(AHCY):c.578A>G (p.Tyr193Cys) http://identifiers.org/clinvar/311188 ^@ NM_001846.3(COL4A2):c.4882-15C>T http://identifiers.org/clinvar/319769 ^@ NM_004530.5(MMP2):c.1842C>G (p.Pro614=) http://identifiers.org/clinvar/312788 ^@ NM_020366.3(RPGRIP1):c.1200G>A (p.Glu400=) http://identifiers.org/clinvar/338475 ^@ NM_000457.4(HNF4A):c.*2674_*2675delGC http://identifiers.org/clinvar/311388 ^@ NM_006783.4(GJB6):c.-149G>A http://identifiers.org/clinvar/320019 ^@ NM_020312.3(COQ9):c.*630A>G http://identifiers.org/clinvar/311488 ^@ NM_000231.2(SGCG):c.*571_*576delATTAAA http://identifiers.org/clinvar/338625 ^@ NM_030777.3(SLC2A10):c.*1394G>A http://identifiers.org/clinvar/338675 ^@ NM_000311.4(PRNP):c.*1588C>T http://identifiers.org/clinvar/311588 ^@ NM_018451.4(CENPJ):c.*683dupA http://identifiers.org/clinvar/320369 ^@ NM_015386.2(COG4):c.1827+12G>C http://identifiers.org/clinvar/311738 ^@ NM_015087.4(SPG20):c.*2299T>C http://identifiers.org/clinvar/311988 ^@ NM_207361.5(FREM2):c.5060A>C (p.Glu1687Ala) http://identifiers.org/clinvar/313877 ^@ NM_015346.3(ZFYVE26):c.6819G>A (p.Arg2273=) http://identifiers.org/clinvar/312288 ^@ NM_000321.2(RB1):c.1140C>T (p.Asn380=) http://identifiers.org/clinvar/314077 ^@ NM_031427.3(DNAL1):c.*3556_*3558dupGTT http://identifiers.org/clinvar/321562 ^@ NM_000833.4(GRIN2A):c.*2773_*2774dupAA http://identifiers.org/clinvar/314127 ^@ NM_031427.3(DNAL1):c.*6163_*6164insTGCACG http://identifiers.org/clinvar/314177 ^@ NM_005589.3(ALDH6A1):c.731-12T>C http://identifiers.org/clinvar/326900 ^@ NM_017653.3(DYM):c.920C>T (p.Ala307Val) http://identifiers.org/clinvar/368027 ^@ NM_001018113.2(FANCB):c.1078A>G (p.Thr360Ala) http://identifiers.org/clinvar/327150 ^@ NM_005359.5(SMAD4):c.*2962C>T http://identifiers.org/clinvar/368127 ^@ NM_171998.3(RAB39B):c.*2100C>T http://identifiers.org/clinvar/327800 ^@ NM_005786.5(TSHZ1):c.331C>A (p.Pro111Thr) http://identifiers.org/clinvar/328150 ^@ NM_000121.3(EPOR):c.568G>T (p.Ala190Ser) http://identifiers.org/clinvar/337775 ^@ NM_000214.2(JAG1):c.-483C>T http://identifiers.org/clinvar/337875 ^@ NM_000361.2(THBD):c.*277G>A http://identifiers.org/clinvar/338125 ^@ NM_015338.5(ASXL1):c.*285G>C http://identifiers.org/clinvar/338325 ^@ NM_000557.4(GDF5):c.-39C>T http://identifiers.org/clinvar/338425 ^@ NM_000457.4(HNF4A):c.290+17dupT http://identifiers.org/clinvar/338575 ^@ NM_001250.5(CD40):c.647-4_647-3dupTT http://identifiers.org/clinvar/338826 ^@ NM_000782.4(CYP24A1):c.732+7A>T http://identifiers.org/clinvar/338926 ^@ NM_004738.4(VAPB):c.-152C>A http://identifiers.org/clinvar/338976 ^@ NM_004738.4(VAPB):c.*3516C>G http://identifiers.org/clinvar/330449 ^@ NM_000208.3(INSR):c.2933T>A (p.Phe978Tyr) http://identifiers.org/clinvar/330499 ^@ NM_020533.2(MCOLN1):c.1021G>A (p.Val341Ile) http://identifiers.org/clinvar/330549 ^@ NM_006949.3(STXBP2):c.578+11dupC http://identifiers.org/clinvar/338025 ^@ NM_006899.4(IDH3B):c.399-12G>T http://identifiers.org/clinvar/338375 ^@ NM_005461.4(MAFB):c.*1787T>C http://identifiers.org/clinvar/338525 ^@ NM_000308.3(CTSA):c.249-7dupC http://identifiers.org/clinvar/338776 ^@ NM_020436.4(SALL4):c.1113C>G (p.Val371=) http://identifiers.org/clinvar/338876 ^@ NM_002591.3(PCK1):c.462A>G (p.Ser154=) http://identifiers.org/clinvar/381433 ^@ NM_002489.3(NDUFA4):c.-13C>T http://identifiers.org/clinvar/381834 ^@ NM_000051.3(ATM):c.7852A>C (p.Arg2618=) http://identifiers.org/clinvar/385178 ^@ NM_000051.3(ATM):c.9048A>G (p.Lys3016=) http://identifiers.org/clinvar/381733 ^@ NM_052968.4(APOA5):c.289C>T (p.Gln97Ter) http://identifiers.org/clinvar/382535 ^@ NM_000391.3(TPP1):c.1362A>G (p.Ala454=) http://identifiers.org/clinvar/382335 ^@ NM_016725.2(FOLR1):c.358-18T>A http://identifiers.org/clinvar/390556 ^@ NM_001080449.2(DNA2):c.2358G>A (p.Gly786=) http://identifiers.org/clinvar/383838 ^@ NM_000051.3(ATM):c.1951C>T (p.Leu651=) http://identifiers.org/clinvar/387867 ^@ NM_000525.3(KCNJ11):c.903C>T (p.Arg301=) http://identifiers.org/clinvar/387767 ^@ NM_001278503.1(STT3A):c.616-12A>G http://identifiers.org/clinvar/392945 ^@ NM_014191.3(SCN8A):c.158C>G (p.Pro53Arg) http://identifiers.org/clinvar/382084 ^@ NM_004990.3(MARS):c.2204+11G>A http://identifiers.org/clinvar/390356 ^@ NM_020822.2(KCNT1):c.2070C>T (p.Gly690=) http://identifiers.org/clinvar/392545 ^@ NM_000231.2(SGCG):c.579-2A>G http://identifiers.org/clinvar/382586 ^@ NM_030813.5(CLPB):c.1254C>T (p.His418=) http://identifiers.org/clinvar/383587 ^@ NM_024698.5(SLC25A22):c.146+7G>A http://identifiers.org/clinvar/381783 ^@ NM_006231.3(POLE):c.-29C>G http://identifiers.org/clinvar/392295 ^@ NM_001376.4(DYNC1H1):c.3533G>A (p.Arg1178Gln) http://identifiers.org/clinvar/391106 ^@ NM_000719.6(CACNA1C):c.2854-10C>G http://identifiers.org/clinvar/387417 ^@ NM_022489.3(INF2):c.3103G>A (p.Gly1035Ser) http://identifiers.org/clinvar/392445 ^@ NM_032634.3(PIGO):c.1776C>G (p.Gly592=) http://identifiers.org/clinvar/391206 ^@ NM_005050.3(ABCD4):c.1230G>A (p.Lys410=) http://identifiers.org/clinvar/387917 ^@ NM_000507.3(FBP1):c.78C>T (p.Arg26=) http://identifiers.org/clinvar/381333 ^@ NM_004572.3(PKP2):c.1688+7C>T http://identifiers.org/clinvar/392095 ^@ NM_152594.2(SPRED1):c.281T>C (p.Ile94Thr) http://identifiers.org/clinvar/389706 ^@ NM_007078.2(LDB3):c.2124G>A (p.Pro708=) http://identifiers.org/clinvar/390206 ^@ NM_002471.3(MYH6):c.3860-12T>C http://identifiers.org/clinvar/383476 ^@ NM_000059.3(BRCA2):c.7008-17T>G http://identifiers.org/clinvar/385528 ^@ NM_000051.3(ATM):c.6453-17T>G http://identifiers.org/clinvar/381533 ^@ NM_007129.3(ZIC2):c.627A>G (p.Gln209=) http://identifiers.org/clinvar/388517 ^@ NM_152594.2(SPRED1):c.636A>C (p.Val212=) http://identifiers.org/clinvar/381934 ^@ NM_000138.4(FBN1):c.1774G>T (p.Gly592Cys) http://identifiers.org/clinvar/392395 ^@ NM_030813.5(CLPB):c.1770+7G>A http://identifiers.org/clinvar/384678 ^@ NM_020778.4(ALPK3):c.3417C>G (p.Ala1139=) http://identifiers.org/clinvar/383788 ^@ NM_130468.3(CHST14):c.891C>G (p.Gly297=) http://identifiers.org/clinvar/385828 ^@ NM_016373.3(WWOX):c.517-10C>G http://identifiers.org/clinvar/47443 ^@ NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) http://identifiers.org/clinvar/47493 ^@ NM_133378.4(TTN):c.82243G>A (p.Val27415Met) http://identifiers.org/clinvar/47543 ^@ NM_133378.4(TTN):c.87124G>A (p.Ala29042Thr) http://identifiers.org/clinvar/47593 ^@ NM_133378.4(TTN):c.90391C>T (p.Leu30131Phe) http://identifiers.org/clinvar/47643 ^@ NM_133378.4(TTN):c.94187G>A (p.Arg31396His) http://identifiers.org/clinvar/47693 ^@ NM_133378.4(TTN):c.97825G>A (p.Val32609Met) http://identifiers.org/clinvar/47743 ^@ NM_001256850.1(TTN):c.10360+2899T>C http://identifiers.org/clinvar/47793 ^@ NM_133379.4(TTN):c.16020T>C (p.His5340=) http://identifiers.org/clinvar/47843 ^@ NM_133432.3(TTN):c.13255A>C (p.Asn4419His) http://identifiers.org/clinvar/47893 ^@ NM_144573.3(NEXN):c.1677_1682delGGAGGA (p.Glu561_Glu562del) http://identifiers.org/clinvar/47943 ^@ NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) http://identifiers.org/clinvar/48045 ^@ NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg) http://identifiers.org/clinvar/154 ^@ NM_000274.3(OAT):c.808G>C (p.Ala270Pro) http://identifiers.org/clinvar/168 ^@ NM_000274.3(OAT):c.722C>T (p.Pro241Leu) http://identifiers.org/clinvar/200 ^@ NM_001173991.2(TMEM216):c.230G>C (p.Gly77Ala) http://identifiers.org/clinvar/241 ^@ NM_000398.6(CYB5R3):c.610T>C (p.Cys204Arg) http://identifiers.org/clinvar/448 ^@ NM_133459.3(CCBE1):c.683_684insT (p.Leu229Profs) http://identifiers.org/clinvar/575 ^@ NM_001102416.2(KNG1):c.1216dupC (p.His406Profs) http://identifiers.org/clinvar/625 ^@ NM_000277.1(PAH):c.1169A>G (p.Glu390Gly) http://identifiers.org/clinvar/1403 ^@ NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg) http://identifiers.org/clinvar/1449 ^@ NM_000190.3(HMBS):c.446G>A (p.Arg149Gln) http://identifiers.org/clinvar/1494 ^@ NM_001039141.2(TRIOBP):c.3202C>T (p.Arg1068Ter) http://identifiers.org/clinvar/1585 ^@ NM_001127255.1(NLRP7):c.2471+1G>A http://identifiers.org/clinvar/1634 ^@ NM_000018.3(ACADVL):c.1349G>A (p.Arg450His) http://identifiers.org/clinvar/1724 ^@ FIG4, 8-BP DEL, NT1043 http://identifiers.org/clinvar/1776 ^@ NM_001191061.1(SLC25A22):c.706G>T (p.Gly236Trp) http://identifiers.org/clinvar/1820 ^@ NM_012414.3(RAB3GAP2):c.3154G>T (p.Gly1052Cys) http://identifiers.org/clinvar/1866 ^@ PDCD10, 103C-T http://identifiers.org/clinvar/1910 ^@ NM_000411.6(HLCS):c.1741G>A (p.Gly581Ser) http://identifiers.org/clinvar/1956 ^@ NM_000022.3(ADA):c.302G>A (p.Arg101Gln) http://identifiers.org/clinvar/2045 ^@ NM_032146.5(ARL6):c.266C>T (p.Ala89Val) http://identifiers.org/clinvar/2090 ^@ DFNA5, INS/DEL, EX8DEL http://identifiers.org/clinvar/2136 ^@ NM_130810.3(DNAAF4):c.1249G>T (p.Glu417Ter) http://identifiers.org/clinvar/2183 ^@ ROBO3, 2-BP DEL, 1886TT http://identifiers.org/clinvar/2228 ^@ NM_000551.3(VHL):c.334T>A (p.Tyr112Asn) http://identifiers.org/clinvar/2273 ^@ NM_014874.3(MFN2):c.205G>T (p.Val69Phe) http://identifiers.org/clinvar/2319 ^@ ETHE1, 1-BP INS, 604G http://identifiers.org/clinvar/2364 ^@ NM_201548.4(CERKL):c.769C>T (p.Arg257Ter) http://identifiers.org/clinvar/2455 ^@ NEU1, IVSEDS, G-C, +1 http://identifiers.org/clinvar/2500 ^@ NM_000127.2(EXT1):c.1018C>T (p.Arg340Cys) http://identifiers.org/clinvar/2549 ^@ NM_000243.2(MEFV):c.2282G>A (p.Arg761His) http://identifiers.org/clinvar/3327 ^@ SALL4, DEL http://identifiers.org/clinvar/10171 ^@ NM_000132.3(F8):c.396A>C (p.Glu132Asp) http://identifiers.org/clinvar/10216 ^@ NM_000132.3(F8):c.1481T>C (p.Ile494Thr) http://identifiers.org/clinvar/10261 ^@ NM_000132.3(F8):c.4379delA (p.Asn1460Ilefs) http://identifiers.org/clinvar/10306 ^@ NM_000132.3(F8):c.6193T>C (p.Trp2065Arg) http://identifiers.org/clinvar/10351 ^@ NM_000132.3(F8):c.592T>G (p.Cys198Gly) http://identifiers.org/clinvar/10400 ^@ NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) http://identifiers.org/clinvar/10449 ^@ GJB1, -526G-C http://identifiers.org/clinvar/10769 ^@ NM_000169.2(GLA):c.427G>C (p.Ala143Pro) http://identifiers.org/clinvar/10813 ^@ PHEX, 2-BP DEL, 675TC http://identifiers.org/clinvar/11413 ^@ NM_014009.3(FOXP3):c.750_752delGGA (p.Glu251del) http://identifiers.org/clinvar/11463 ^@ IKBKG, 1-BP INS, 1409A http://identifiers.org/clinvar/12470 ^@ NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu) http://identifiers.org/clinvar/12520 ^@ NM_004612.3(TGFBR1):c.953T>G (p.Met318Arg) http://identifiers.org/clinvar/12823 ^@ SOX2, 20-BP DEL, NT70 http://identifiers.org/clinvar/12874 ^@ NM_001172560.1(SSTR5):c.718C>T (p.Arg240Trp) http://identifiers.org/clinvar/12924 ^@ NM_000702.3(ATP1A2):c.2152G>A (p.Asp718Asn) http://identifiers.org/clinvar/12974 ^@ NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) http://identifiers.org/clinvar/13025 ^@ NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) http://identifiers.org/clinvar/13076 ^@ NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) http://identifiers.org/clinvar/13127 ^@ NM_002875.4(RAD51):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/13178 ^@ NM_000322.4(PRPH2):c.461_463delAGA (p.Lys154del) http://identifiers.org/clinvar/13229 ^@ BCHE*FS126 http://identifiers.org/clinvar/13280 ^@ NM_000141.4(FGFR2):c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer) http://identifiers.org/clinvar/13331 ^@ NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) http://identifiers.org/clinvar/13381 ^@ NM_000207.2(INS):c.274G>T (p.Val92Leu) http://identifiers.org/clinvar/13436 ^@ NM_000371.3(TTR):c.199G>C (p.Gly67Arg) http://identifiers.org/clinvar/13487 ^@ NM_000217.2(KCNA1):c.1210G>A (p.Val404Ile) http://identifiers.org/clinvar/13537 ^@ CD36, G1439C, 1-BP DEL, 1444A http://identifiers.org/clinvar/36866 ^@ NM_003242.5(TGFBR2):c.1540T>C (p.Cys514Arg) http://identifiers.org/clinvar/36918 ^@ NM_001382.3(DPAGT1):c.349G>A (p.Val117Ile) http://identifiers.org/clinvar/37012 ^@ NM_153033.4(KCTD7):c.343G>T (p.Asp115Tyr) http://identifiers.org/clinvar/37093 ^@ NM_000428.2(LTBP2):c.3529G>A (p.Val1177Met) http://identifiers.org/clinvar/37215 ^@ NM_016169.3(SUFU):c.367C>T (p.Arg123Cys) http://identifiers.org/clinvar/37307 ^@ NM_006129.4(BMP1):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/37391 ^@ NM_007294.3(BRCA1):c.1121delC (p.Thr374Asnfs) http://identifiers.org/clinvar/37443 ^@ NM_007294.3(BRCA1):c.2060A>C (p.Gln687Pro) http://identifiers.org/clinvar/37494 ^@ NM_007294.3(BRCA1):c.2963C>T (p.Ser988Leu) http://identifiers.org/clinvar/37554 ^@ NM_007294.3(BRCA1):c.3868A>T (p.Lys1290Ter) http://identifiers.org/clinvar/37605 ^@ NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln) http://identifiers.org/clinvar/37660 ^@ NM_007294.3(BRCA1):c.5363G>T (p.Gly1788Val) http://identifiers.org/clinvar/37715 ^@ NM_000059.3(BRCA2):c.-39-12_-39-10delTCT http://identifiers.org/clinvar/37766 ^@ NM_000059.3(BRCA2):c.1850C>G (p.Ser617Ter) http://identifiers.org/clinvar/37819 ^@ NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter) http://identifiers.org/clinvar/37871 ^@ NM_000059.3(BRCA2):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/37924 ^@ NM_000059.3(BRCA2):c.476-3C>A http://identifiers.org/clinvar/37978 ^@ NM_000059.3(BRCA2):c.5603_5606delACAG (p.Asp1868Valfs) http://identifiers.org/clinvar/38029 ^@ NM_000059.3(BRCA2):c.6267_6269delGCAinsC (p.Glu2089Aspfs) http://identifiers.org/clinvar/38083 ^@ NM_000059.3(BRCA2):c.7096C>G (p.Leu2366Val) http://identifiers.org/clinvar/38133 ^@ NM_000059.3(BRCA2):c.7977-3_7977-1del3ins2 http://identifiers.org/clinvar/38183 ^@ NM_000059.3(BRCA2):c.8755-1G>A http://identifiers.org/clinvar/38233 ^@ NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) http://identifiers.org/clinvar/38290 ^@ NM_000060.4(BTD):c.470G>A (p.Arg157His) http://identifiers.org/clinvar/38350 ^@ NM_002437.4(MPV17):c.234_242delTGGCACCAC (p.Gly79_Thr81del) http://identifiers.org/clinvar/39624 ^@ DYRK1A, 1-BP DEL, C http://identifiers.org/clinvar/39674 ^@ DDHD1, IVS11AS, G-T, -1 http://identifiers.org/clinvar/39726 ^@ NM_000431.3(MVK):c.604G>A (p.Gly202Arg) http://identifiers.org/clinvar/39777 ^@ NC_000017.11:g.(?_70643580)_(71603774_?)del http://identifiers.org/clinvar/39828 ^@ NM_139242.3(MTFMT):c.382C>T (p.Arg128Ter) http://identifiers.org/clinvar/40428 ^@ NM_005188.3(CBL):c.2692A>G (p.Ile898Val) http://identifiers.org/clinvar/40499 ^@ NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) http://identifiers.org/clinvar/40555 ^@ NM_002834.4(PTPN11):c.1502G>A (p.Arg501Lys) http://identifiers.org/clinvar/40616 ^@ NM_002880.3(RAF1):c.1279A>G (p.Ser427Gly) http://identifiers.org/clinvar/40696 ^@ NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) http://identifiers.org/clinvar/40782 ^@ NM_002755.3(MAP2K1):c.237C>T (p.Gly79=) http://identifiers.org/clinvar/40982 ^@ NM_000084.4(CLCN5):c.1637A>G (p.Lys546Arg) http://identifiers.org/clinvar/41040 ^@ NM_001080116.1(LDB3):c.440C>T (p.Ala147Val) http://identifiers.org/clinvar/41096 ^@ NM_003611.2(OFD1):c.2261-1G>T http://identifiers.org/clinvar/41152 ^@ NM_003611.2(OFD1):c.871A>T (p.Lys291Ter) http://identifiers.org/clinvar/41203 ^@ NM_003977.3(AIP):c.74_81delTCCCGGACins7 http://identifiers.org/clinvar/51163 ^@ NM_000059.3(BRCA2):c.1640C>T (p.Ser547Leu) http://identifiers.org/clinvar/51214 ^@ NM_000059.3(BRCA2):c.1852G>C (p.Ala618Pro) http://identifiers.org/clinvar/51266 ^@ NM_000059.3(BRCA2):c.2287delC (p.His763Metfs) http://identifiers.org/clinvar/51317 ^@ NM_000059.3(BRCA2):c.262_263delCT (p.Leu88Alafs) http://identifiers.org/clinvar/51367 ^@ NM_000059.3(BRCA2):c.2899C>G (p.Leu967Val) http://identifiers.org/clinvar/51417 ^@ NM_000059.3(BRCA2):c.3170A>G (p.Lys1057Arg) http://identifiers.org/clinvar/51469 ^@ NM_000059.3(BRCA2):c.3453delC (p.Leu1152Terfs) http://identifiers.org/clinvar/51520 ^@ NM_000059.3(BRCA2):c.3767A>G (p.His1256Arg) http://identifiers.org/clinvar/51571 ^@ NM_000059.3(BRCA2):c.3944G>A (p.Arg1315Lys) http://identifiers.org/clinvar/51622 ^@ NM_000059.3(BRCA2):c.426-47G>T http://identifiers.org/clinvar/51674 ^@ NM_000059.3(BRCA2):c.455C>A (p.Thr152Lys) http://identifiers.org/clinvar/51726 ^@ NM_000059.3(BRCA2):c.4848_4849delAA (p.Ser1617Terfs) http://identifiers.org/clinvar/51778 ^@ NM_000059.3(BRCA2):c.5141_5144delATTT (p.Tyr1714Cysfs) http://identifiers.org/clinvar/51829 ^@ NM_000059.3(BRCA2):c.5250delC (p.Tyr1751Thrfs) http://identifiers.org/clinvar/51882 ^@ NM_000059.3(BRCA2):c.5577_5580delTAAA (p.Lys1861Terfs) http://identifiers.org/clinvar/51934 ^@ NM_000059.3(BRCA2):c.5774_5777delAGAG (p.Gln1925Leufs) http://identifiers.org/clinvar/51985 ^@ NM_000059.3(BRCA2):c.5delC (p.Pro2Leufs) http://identifiers.org/clinvar/52036 ^@ NM_000059.3(BRCA2):c.6220_6222delCACinsAA (p.His2074Lysfs) http://identifiers.org/clinvar/52089 ^@ NM_000059.3(BRCA2):c.6420T>G (p.Gly2140=) http://identifiers.org/clinvar/52546 ^@ NM_000059.3(BRCA2):c.8324T>C (p.Met2775Thr) http://identifiers.org/clinvar/53552 ^@ NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) http://identifiers.org/clinvar/53602 ^@ NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) http://identifiers.org/clinvar/53654 ^@ NM_000492.3(CFTR):c.3124C>T (p.Gln1042Ter) http://identifiers.org/clinvar/53705 ^@ NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) http://identifiers.org/clinvar/53755 ^@ NM_000492.3(CFTR):c.346G>C (p.Glu116Gln) http://identifiers.org/clinvar/53806 ^@ NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu) http://identifiers.org/clinvar/53860 ^@ NM_000492.3(CFTR):c.3953T>C (p.Val1318Ala) http://identifiers.org/clinvar/53911 ^@ NM_000492.3(CFTR):c.4170delA (p.Ala1391Hisfs) http://identifiers.org/clinvar/53961 ^@ NM_000492.3(CFTR):c.476T>A (p.Leu159Ter) http://identifiers.org/clinvar/54011 ^@ NM_000492.3(CFTR):c.579+3A>T http://identifiers.org/clinvar/54061 ^@ NM_000492.3(CFTR):c.79G>T (p.Gly27Ter) http://identifiers.org/clinvar/54113 ^@ NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) http://identifiers.org/clinvar/54163 ^@ NM_007294.3(BRCA1):c.1208C>T (p.Ser403Phe) http://identifiers.org/clinvar/54213 ^@ NM_007294.3(BRCA1):c.134+3_134+6delAAGT http://identifiers.org/clinvar/54263 ^@ NM_007294.3(BRCA1):c.146T>G (p.Leu49Arg) http://identifiers.org/clinvar/54314 ^@ NM_007294.3(BRCA1):c.1631A>C (p.Gln544Pro) http://identifiers.org/clinvar/54365 ^@ NM_007294.3(BRCA1):c.182_183delGT (p.Cys61Serfs) http://identifiers.org/clinvar/54415 ^@ NM_007294.3(BRCA1):c.1960A>G (p.Lys654Glu) http://identifiers.org/clinvar/54465 ^@ NM_007294.3(BRCA1):c.212+1G>T http://identifiers.org/clinvar/54515 ^@ NM_007294.3(BRCA1):c.2253_2254delGT (p.Met751Ilefs) http://identifiers.org/clinvar/54565 ^@ NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) http://identifiers.org/clinvar/54615 ^@ NM_007294.3(BRCA1):c.2600A>G (p.Gln867Arg) http://identifiers.org/clinvar/54665 ^@ NM_007294.3(BRCA1):c.2739T>A (p.Asn913Lys) http://identifiers.org/clinvar/54715 ^@ NM_007294.3(BRCA1):c.2914G>T (p.Gly972Ter) http://identifiers.org/clinvar/54765 ^@ NM_007294.3(BRCA1):c.3072C>G (p.Ser1024Arg) http://identifiers.org/clinvar/54815 ^@ NM_007294.3(BRCA1):c.3268C>T (p.Gln1090Ter) http://identifiers.org/clinvar/55666 ^@ NM_007294.3(BRCA1):c.685delT (p.Ser229Leufs) http://identifiers.org/clinvar/55717 ^@ NM_007294.3(BRCA1):c.81-2delA http://identifiers.org/clinvar/55768 ^@ NM_007294.3(BRCA1):c.964delG (p.Ala322Leufs) http://identifiers.org/clinvar/55840 ^@ NM_145038.4(DRC1):c.352C>T (p.Gln118Ter) http://identifiers.org/clinvar/55918 ^@ NM_001482.2(GATM):c.1111dupA (p.Met371Asnfs) http://identifiers.org/clinvar/56185 ^@ NM_000310.3(PPT1):c.255_257delCTT (p.Phe85del) http://identifiers.org/clinvar/56235 ^@ NM_000481.3(AMT):c.59delC (p.Pro20Argfs) http://identifiers.org/clinvar/56286 ^@ NM_001042432.1(CLN3):c.586dupG (p.Ala196Glyfs) http://identifiers.org/clinvar/56338 ^@ NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg) http://identifiers.org/clinvar/56389 ^@ NM_002299.3(LCT):c.4419C>G (p.Tyr1473Ter) http://identifiers.org/clinvar/56440 ^@ NM_004646.3(NPHS1):c.139delG (p.Ala47Profs) http://identifiers.org/clinvar/101407 ^@ NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu) http://identifiers.org/clinvar/101457 ^@ NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val) http://identifiers.org/clinvar/101509 ^@ NM_173812.4(DPY19L2):c.1218+1G>A http://identifiers.org/clinvar/102470 ^@ NM_000277.1(PAH):c.1021A>T (p.Lys341Ter) http://identifiers.org/clinvar/102525 ^@ NM_000277.1(PAH):c.1100T>C (p.Leu367Pro) http://identifiers.org/clinvar/102578 ^@ NM_000277.1(PAH):c.1249T>A (p.Tyr417Asn) http://identifiers.org/clinvar/102632 ^@ NM_000277.1(PAH):c.208_210delTCT (p.Ser70del) http://identifiers.org/clinvar/102685 ^@ NM_000277.1(PAH):c.460T>C (p.Tyr154His) http://identifiers.org/clinvar/102735 ^@ NM_000277.1(PAH):c.559T>C (p.Trp187Arg) http://identifiers.org/clinvar/102786 ^@ NM_000277.1(PAH):c.691T>C (p.Ser231Pro) http://identifiers.org/clinvar/102836 ^@ NM_000277.1(PAH):c.794G>A (p.Cys265Tyr) http://identifiers.org/clinvar/102888 ^@ NM_000277.1(PAH):c.904delT (p.Ser303Profs) http://identifiers.org/clinvar/102946 ^@ NM_001282358.1(NLRX1):c.-154T>C http://identifiers.org/clinvar/102996 ^@ NM_000246.3(CIITA):c.207C>G (p.Asp69Glu) http://identifiers.org/clinvar/103046 ^@ NM_001079821.2(NLRP3):c.494A>G (p.Asn165Ser) http://identifiers.org/clinvar/103096 ^@ NM_006092.2(NOD1):c.2285+112G>A http://identifiers.org/clinvar/103146 ^@ NM_024618.3(NLRX1):c.70+243G>C http://identifiers.org/clinvar/103196 ^@ NM_032206.4(NLRC5):c.4407-9C>A http://identifiers.org/clinvar/103246 ^@ NM_138329.2(NLRP6):c.29+250G>A http://identifiers.org/clinvar/103346 ^@ NM_176822.3(NLRP14):c.2633+52T>C http://identifiers.org/clinvar/111220 ^@ NM_000416.2(IFNGR1):c.861+42T>G http://identifiers.org/clinvar/111270 ^@ NM_006068.4(TLR6):c.2124G>C (p.Gln708His) http://identifiers.org/clinvar/120232 ^@ NM_017637.5(BNC2):c.1868C>A (p.Pro623His) http://identifiers.org/clinvar/120282 ^@ NM_000277.1(PAH):c.612T>C (p.Tyr204=) http://identifiers.org/clinvar/125439 ^@ NM_033419.4(PGAP3):c.914A>G (p.Asp305Gly) http://identifiers.org/clinvar/125503 ^@ NM_007294.3(BRCA1):c.1518delG (p.Arg507Aspfs) http://identifiers.org/clinvar/125572 ^@ U14680.1:n.2607dupAAGTATCCAT http://identifiers.org/clinvar/126459 ^@ NM_181523.2(PIK3R1):c.1892G>A (p.Arg631Gln) http://identifiers.org/clinvar/126521 ^@ NM_033056.3(PCDH15):c.2367_2369delTGT (p.Val790del) http://identifiers.org/clinvar/126596 ^@ NM_024675.3(PALB2):c.1314delA (p.Phe440Leufs) http://identifiers.org/clinvar/126647 ^@ NM_024675.3(PALB2):c.232G>A (p.Val78Ile) http://identifiers.org/clinvar/126698 ^@ NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) http://identifiers.org/clinvar/126748 ^@ NM_024675.3(PALB2):c.395delT (p.Val132Alafs) http://identifiers.org/clinvar/126799 ^@ NG_009009.1:g.1662319T>A http://identifiers.org/clinvar/126852 ^@ NM_004996.3(ABCC1):c.1913-617C>T http://identifiers.org/clinvar/126909 ^@ NM_007194.3(CHEK2):c.1336A>G (p.Asn446Asp) http://identifiers.org/clinvar/126959 ^@ NM_000428.2(LTBP2):c.5376delC (p.Cys1793Alafs) http://identifiers.org/clinvar/127009 ^@ NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) http://identifiers.org/clinvar/127059 ^@ NM_001641.3(APEX1):c.441C>T (p.Gly147=) http://identifiers.org/clinvar/127117 ^@ NM_005051.2(QARS):c.169T>C (p.Tyr57His) http://identifiers.org/clinvar/127283 ^@ NM_000038.5(APC):c.3070C>T (p.Pro1024Ser) http://identifiers.org/clinvar/127333 ^@ NM_000051.3(ATM):c.1234T>C (p.Trp412Arg) http://identifiers.org/clinvar/127383 ^@ NM_000051.3(ATM):c.4201T>A (p.Leu1401Ile) http://identifiers.org/clinvar/127433 ^@ NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) http://identifiers.org/clinvar/127484 ^@ NM_000057.3(BLM):c.2333C>G (p.Ser778Cys) http://identifiers.org/clinvar/127534 ^@ NM_000136.2(FANCC):c.1575T>G (p.Phe525Leu) http://identifiers.org/clinvar/127584 ^@ NM_000179.2(MSH6):c.3260C>A (p.Pro1087His) http://identifiers.org/clinvar/127635 ^@ NM_000251.2(MSH2):c.1744delG (p.Val582Serfs) http://identifiers.org/clinvar/127694 ^@ NM_000314.6(PTEN):c.884_885insTT (p.Cys296Tyrfs) http://identifiers.org/clinvar/127744 ^@ NM_000465.3(BARD1):c.690C>G (p.Asp230Glu) http://identifiers.org/clinvar/127795 ^@ NM_000535.6(PMS2):c.710A>T (p.Gln237Leu) http://identifiers.org/clinvar/160844 ^@ GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1 http://identifiers.org/clinvar/160896 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 http://identifiers.org/clinvar/160948 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 http://identifiers.org/clinvar/160998 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25299502-25507576)x1 http://identifiers.org/clinvar/161049 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 http://identifiers.org/clinvar/161099 ^@ NM_030777.3(SLC2A10):c.1411+480_1547+299del (p.Gly471_Arg515delXfs) http://identifiers.org/clinvar/161149 ^@ NM_152296.4(ATP1A3):c.2780G>A (p.Cys927Tyr) http://identifiers.org/clinvar/161381 ^@ NM_001035.2(RYR2):c.3038G>A (p.Arg1013Gln) http://identifiers.org/clinvar/161231 ^@ NM_000118.3(ENG):c.1510G>A (p.Val504Met) http://identifiers.org/clinvar/161331 ^@ NM_004572.3(PKP2):c.1465G>A (p.Gly489Arg) http://identifiers.org/clinvar/161447 ^@ NM_015978.2(TNNI3K):c.1577G>A (p.Gly526Asp) http://identifiers.org/clinvar/161750 ^@ NM_021815.4(SLC5A7):c.1175C>T (p.Ala392Val) http://identifiers.org/clinvar/161700 ^@ NM_016247.3(IMPG2):c.1265C>T (p.Pro422Leu) http://identifiers.org/clinvar/161500 ^@ NM_001029884.2(PLEKHG1):c.2293C>T (p.Arg765Trp) http://identifiers.org/clinvar/161650 ^@ NM_006774.4(INMT):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/161850 ^@ NM_198151.3(HEPACAM2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/161800 ^@ NM_130391.3(PTPRD):c.4471C>T (p.Arg1491Cys) http://identifiers.org/clinvar/161600 ^@ NM_002802.2(PSMC1):c.279+8G>A http://identifiers.org/clinvar/161550 ^@ NM_001172646.1(PLCB4):c.408C>A (p.Phe136Leu) http://identifiers.org/clinvar/162022 ^@ NM_012203.1(GRHPR):c.904C>T (p.Arg302Cys) http://identifiers.org/clinvar/162084 ^@ NM_002887.3(RARS):c.1535G>A (p.Arg512Gln) http://identifiers.org/clinvar/162146 ^@ NM_004771.3(MMP20):c.954-4768T>C http://identifiers.org/clinvar/162212 ^@ NM_032228.5(FAR1):c.495_507delAGTAGTCTATCCAinsT (p.Glu165_Pro169delinsAsp) http://identifiers.org/clinvar/162413 ^@ NM_170707.3(LMNA):c.1968+1G>C http://identifiers.org/clinvar/162494 ^@ GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3 http://identifiers.org/clinvar/162568 ^@ NM_001079802.1(FKTN):c.668C>T (p.Thr223Ile) http://identifiers.org/clinvar/179079 ^@ NM_024009.2(GJB3):c.99G>A (p.Val33=) http://identifiers.org/clinvar/179529 ^@ NM_133378.4(TTN):c.90330T>C (p.Cys30110=) http://identifiers.org/clinvar/180029 ^@ NM_206933.2(USH2A):c.9621T>C (p.Cys3207=) http://identifiers.org/clinvar/179979 ^@ NM_133378.4(TTN):c.54057A>C (p.Thr18019=) http://identifiers.org/clinvar/179179 ^@ NM_133378.4(TTN):c.14343C>T (p.Pro4781=) http://identifiers.org/clinvar/179229 ^@ NM_133378.4(TTN):c.27417G>A (p.Glu9139=) http://identifiers.org/clinvar/180079 ^@ NM_133378.4(TTN):c.18799C>T (p.Pro6267Ser) http://identifiers.org/clinvar/178660 ^@ NM_001927.3(DES):c.600delG (p.Lys201Argfs) http://identifiers.org/clinvar/179829 ^@ NM_198056.2(SCN5A):c.1936delC (p.Gln646Argfs) http://identifiers.org/clinvar/163285 ^@ NM_004415.3(DSP):c.6654C>G (p.Thr2218=) http://identifiers.org/clinvar/179679 ^@ NM_004999.3(MYO6):c.2716T>C (p.Ser906Pro) http://identifiers.org/clinvar/177617 ^@ NM_005228.4(EGFR):c.2254_2277del24 (p.Ser752_Ile759del) http://identifiers.org/clinvar/198416 ^@ NM_000329.2(RPE65):c.675C>G (p.Ile225Met) http://identifiers.org/clinvar/198466 ^@ NM_001159702.2(FHL1):c.889-8C>T http://identifiers.org/clinvar/198520 ^@ NM_004727.2(SLC24A1):c.2445C>T (p.His815=) http://identifiers.org/clinvar/198571 ^@ NM_001243766.1(POMGNT1):c.549C>T (p.Phe183=) http://identifiers.org/clinvar/198623 ^@ NM_173660.4(DOK7):c.1403_1408delGCCCTG (p.Gly468_Pro469del) http://identifiers.org/clinvar/198674 ^@ NM_033071.3(SYNE1):c.14586G>T (p.Glu4862Asp) http://identifiers.org/clinvar/198727 ^@ NM_000404.3(GLB1):c.809A>C (p.Tyr270Ser) http://identifiers.org/clinvar/198781 ^@ NM_003073.4(SMARCB1):c.1033G>T (p.Asp345Tyr) http://identifiers.org/clinvar/198834 ^@ NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) http://identifiers.org/clinvar/198888 ^@ NM_018100.3(EFHC1):c.1306C>T (p.Arg436Cys) http://identifiers.org/clinvar/201241 ^@ NM_001035.2(RYR2):c.3823G>A (p.Gly1275Ser) http://identifiers.org/clinvar/201409 ^@ NM_001035.2(RYR2):c.8596_8598delGGA (p.Gly2866del) http://identifiers.org/clinvar/201294 ^@ NM_001035.2(RYR2):c.9412T>C (p.Tyr3138His) http://identifiers.org/clinvar/201185 ^@ NM_001035.2(RYR2):c.12858C>T (p.Ser4286=) http://identifiers.org/clinvar/201352 ^@ NM_001035.2(RYR2):c.13822C>T (p.Arg4608Trp) http://identifiers.org/clinvar/201522 ^@ NM_198056.2(SCN5A):c.4951A>G (p.Met1651Val) http://identifiers.org/clinvar/201463 ^@ NM_198056.2(SCN5A):c.1891-5C>G http://identifiers.org/clinvar/201576 ^@ NM_198056.2(SCN5A):c.1705C>G (p.Arg569Gly) http://identifiers.org/clinvar/200464 ^@ NM_000238.3(KCNH2):c.2504G>A (p.Arg835Gln) http://identifiers.org/clinvar/200610 ^@ NM_000238.3(KCNH2):c.732delG (p.Gly246Alafs) http://identifiers.org/clinvar/200299 ^@ NM_000238.3(KCNH2):c.719C>T (p.Pro240Leu) http://identifiers.org/clinvar/200715 ^@ NM_000238.3(KCNH2):c.81dupT (p.Lys28Terfs) http://identifiers.org/clinvar/201118 ^@ NM_002474.2(MYH11):c.5755C>T (p.Arg1919Cys) http://identifiers.org/clinvar/201635 ^@ NM_001103.3(ACTN2):c.2527-1G>A http://identifiers.org/clinvar/202081 ^@ NM_001134363.2(RBM20):c.1748G>A (p.Gly583Asp) http://identifiers.org/clinvar/201910 ^@ NM_006393.2(NEBL):c.2644C>T (p.Arg882Ter) http://identifiers.org/clinvar/201855 ^@ NM_007078.2(LDB3):c.2092G>T (p.Ala698Ser) http://identifiers.org/clinvar/201691 ^@ NM_003476.4(CSRP3):c.509-20C>A http://identifiers.org/clinvar/202022 ^@ NM_004572.3(PKP2):c.2013delC (p.Lys672Argfs) http://identifiers.org/clinvar/201963 ^@ NM_004572.3(PKP2):c.1095G>A (p.Met365Ile) http://identifiers.org/clinvar/202138 ^@ NM_003276.2(TMPO):c.232G>C (p.Gly78Arg) http://identifiers.org/clinvar/201801 ^@ NM_020433.4(JPH2):c.1246C>T (p.Arg416Cys) http://identifiers.org/clinvar/201745 ^@ NM_004006.2(DMD):c.2734G>A (p.Val912Met) http://identifiers.org/clinvar/202422 ^@ NM_001256850.1(TTN):c.82828C>T (p.Arg27610Ter) http://identifiers.org/clinvar/202477 ^@ NM_001256850.1(TTN):c.77735delG (p.Gly25912Glufs) http://identifiers.org/clinvar/233055 ^@ NM_005732.3(RAD50):c.1168_1169delGA (p.Glu390Lysfs) http://identifiers.org/clinvar/233005 ^@ NM_005732.3(RAD50):c.1494A>C (p.Glu498Asp) http://identifiers.org/clinvar/230015 ^@ NM_000535.6(PMS2):c.1713C>T (p.Leu571=) http://identifiers.org/clinvar/233105 ^@ NM_000535.6(PMS2):c.538G>C (p.Glu180Gln) http://identifiers.org/clinvar/230165 ^@ NM_000535.6(PMS2):c.403C>G (p.Leu135Val) http://identifiers.org/clinvar/230415 ^@ NM_002485.4(NBN):c.91T>C (p.Cys31Arg) http://identifiers.org/clinvar/232304 ^@ NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) http://identifiers.org/clinvar/232805 ^@ NM_004329.2(BMPR1A):c.600T>C (p.Ile200=) http://identifiers.org/clinvar/229815 ^@ NM_004329.2(BMPR1A):c.1549A>G (p.Ile517Val) http://identifiers.org/clinvar/230315 ^@ NM_000051.3(ATM):c.496+1G>A http://identifiers.org/clinvar/232605 ^@ NM_000051.3(ATM):c.1394_1395delGT (p.Cys465Serfs) http://identifiers.org/clinvar/230715 ^@ NM_000051.3(ATM):c.2466A>G (p.Leu822=) http://identifiers.org/clinvar/230265 ^@ NM_000051.3(ATM):c.4674G>A (p.Thr1558=) http://identifiers.org/clinvar/232104 ^@ NM_000051.3(ATM):c.6116A>G (p.Glu2039Gly) http://identifiers.org/clinvar/230515 ^@ NM_000051.3(ATM):c.6741T>G (p.Ile2247Met) http://identifiers.org/clinvar/232504 ^@ NM_000051.3(ATM):c.8788T>G (p.Cys2930Gly) http://identifiers.org/clinvar/230065 ^@ NM_005591.3(MRE11):c.121G>C (p.Asp41His) http://identifiers.org/clinvar/229965 ^@ NM_000059.3(BRCA2):c.367A>G (p.Lys123Glu) http://identifiers.org/clinvar/232404 ^@ NM_000059.3(BRCA2):c.1416G>A (p.Gln472=) http://identifiers.org/clinvar/233155 ^@ NM_000059.3(BRCA2):c.5197_5198delTC (p.Ser1733Argfs) http://identifiers.org/clinvar/230665 ^@ NM_024675.3(PALB2):c.3061G>A (p.Gly1021Arg) http://identifiers.org/clinvar/232905 ^@ NM_024675.3(PALB2):c.1847A>G (p.Asp616Gly) http://identifiers.org/clinvar/231854 ^@ NM_024675.3(PALB2):c.466_467delAT (p.Ile156Phefs) http://identifiers.org/clinvar/232354 ^@ NM_004360.4(CDH1):c.1569T>C (p.Tyr523=) http://identifiers.org/clinvar/232054 ^@ NM_004360.4(CDH1):c.1645G>A (p.Asp549Asn) http://identifiers.org/clinvar/232755 ^@ NM_004360.4(CDH1):c.1872T>C (p.Ser624=) http://identifiers.org/clinvar/232554 ^@ NM_004360.4(CDH1):c.2053G>C (p.Val685Leu) http://identifiers.org/clinvar/229915 ^@ NM_144997.5(FLCN):c.1709G>A (p.Arg570His) http://identifiers.org/clinvar/230565 ^@ NM_001042492.2(NF1):c.504A>G (p.Ser168=) http://identifiers.org/clinvar/230115 ^@ NM_001042492.2(NF1):c.4642C>T (p.Pro1548Ser) http://identifiers.org/clinvar/232454 ^@ NM_001042492.2(NF1):c.7190-5T>C http://identifiers.org/clinvar/230365 ^@ NM_001042492.2(NF1):c.7781G>A (p.Arg2594His) http://identifiers.org/clinvar/231115 ^@ NM_002878.3(RAD51D):c.101C>T (p.Ala34Val) http://identifiers.org/clinvar/230865 ^@ NM_007294.3(BRCA1):c.2625A>G (p.Pro875=) http://identifiers.org/clinvar/232955 ^@ NM_007294.3(BRCA1):c.74C>T (p.Pro25Leu) http://identifiers.org/clinvar/232705 ^@ NM_058216.2(RAD51C):c.211A>T (p.Asn71Tyr) http://identifiers.org/clinvar/232204 ^@ NM_032043.2(BRIP1):c.2373T>A (p.Asp791Glu) http://identifiers.org/clinvar/232254 ^@ NM_032043.2(BRIP1):c.2254A>C (p.Lys752Gln) http://identifiers.org/clinvar/232154 ^@ NM_032043.2(BRIP1):c.57T>C (p.Tyr19=) http://identifiers.org/clinvar/231165 ^@ NM_000546.5(TP53):c.587G>C (p.Arg196Pro) http://identifiers.org/clinvar/231015 ^@ NM_000546.5(TP53):c.187G>A (p.Ala63Thr) http://identifiers.org/clinvar/230965 ^@ NM_000455.4(STK11):c.1157T>G (p.Leu386Arg) http://identifiers.org/clinvar/234935 ^@ NM_001302946.1(TRNT1):c.609-26T>C http://identifiers.org/clinvar/235072 ^@ NM_133378.4(TTN):c.72177dupT (p.Arg24060Serfs) http://identifiers.org/clinvar/235022 ^@ NM_000256.3(MYBPC3):c.756C>A (p.Phe252Leu) http://identifiers.org/clinvar/235207 ^@ NC_012920.1:m.869C>T http://identifiers.org/clinvar/235261 ^@ NM_002150.2(HPD):c.15T>G (p.Ser5Arg) http://identifiers.org/clinvar/235315 ^@ NC_012920.1:m.4219G>A http://identifiers.org/clinvar/235367 ^@ NM_000081.3(LYST):c.10941-7C>A http://identifiers.org/clinvar/235421 ^@ NM_020964.2(EPG5):c.2063T>C (p.Phe688Ser) http://identifiers.org/clinvar/235476 ^@ NM_004667.5(HERC2):c.5132C>T (p.Thr1711Ile) http://identifiers.org/clinvar/235529 ^@ NM_018648.3(NOP10):c.34G>C (p.Asp12His) http://identifiers.org/clinvar/235580 ^@ NM_000057.3(BLM):c.3827C>T (p.Ala1276Val) http://identifiers.org/clinvar/235630 ^@ NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) http://identifiers.org/clinvar/235684 ^@ NM_001846.3(COL4A2):c.2102A>G (p.Lys701Arg) http://identifiers.org/clinvar/235746 ^@ NM_000259.3(MYO5A):c.5065G>A (p.Val1689Ile) http://identifiers.org/clinvar/235892 ^@ NM_178014.3(TUBB):c.662C>T (p.Thr221Ile) http://identifiers.org/clinvar/236104 ^@ NM_000350.2(ABCA4):c.3813G>A (p.Glu1271=) http://identifiers.org/clinvar/236154 ^@ NM_004621.5(TRPC6):c.2644+29C>T http://identifiers.org/clinvar/236216 ^@ NM_012102.3(RERE):c.3466G>A (p.Gly1156Arg) http://identifiers.org/clinvar/236292 ^@ NM_198578.3(LRRK2):c.4314A>G (p.Ile1438Met) http://identifiers.org/clinvar/236343 ^@ NC_000002.10:g.50885246_51112391del227146 http://identifiers.org/clinvar/236393 ^@ NC_000015.9:g.22750305_23114440del364136 http://identifiers.org/clinvar/241494 ^@ NM_024529.4(CDC73):c.1333G>A (p.Val445Ile) http://identifiers.org/clinvar/237389 ^@ NM_000251.2(MSH2):c.232G>A (p.Val78Ile) http://identifiers.org/clinvar/237138 ^@ NM_000179.2(MSH6):c.1527G>A (p.Val509=) http://identifiers.org/clinvar/237188 ^@ NM_000179.2(MSH6):c.3350G>T (p.Cys1117Phe) http://identifiers.org/clinvar/240994 ^@ NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) http://identifiers.org/clinvar/237339 ^@ NM_000249.3(MLH1):c.42A>G (p.Thr14=) http://identifiers.org/clinvar/237239 ^@ NM_000222.2(KIT):c.1290A>G (p.Ala430=) http://identifiers.org/clinvar/241994 ^@ NM_152732.4(RSPH9):c.263C>T (p.Ala88Val) http://identifiers.org/clinvar/241844 ^@ NM_138694.3(PKHD1):c.3481G>C (p.Glu1161Gln) http://identifiers.org/clinvar/241394 ^@ NM_021930.5(RINT1):c.1187A>G (p.Asn396Ser) http://identifiers.org/clinvar/237289 ^@ NM_000238.3(KCNH2):c.1332G>A (p.Glu444=) http://identifiers.org/clinvar/241094 ^@ NM_016203.3(PRKAG2):c.161G>A (p.Gly54Asp) http://identifiers.org/clinvar/240944 ^@ NM_014855.2(AP5Z1):c.849C>T (p.Ala283=) http://identifiers.org/clinvar/261593 ^@ NM_022455.4(NSD1):c.5712C>T (p.Pro1904=) http://identifiers.org/clinvar/263032 ^@ NM_182925.4(FLT4):c.1921C>T (p.Pro641Ser) http://identifiers.org/clinvar/255404 ^@ NM_000163.4(GHR):c.1473C>T (p.Ser491=) http://identifiers.org/clinvar/256054 ^@ NM_000426.3(LAMA2):c.1782+14T>C http://identifiers.org/clinvar/262193 ^@ NM_033071.3(SYNE1):c.25314+24C>T http://identifiers.org/clinvar/261093 ^@ NM_019105.6(TNXB):c.*39G>A http://identifiers.org/clinvar/261143 ^@ NM_019105.6(TNXB):c.5713G>A (p.Glu1905Lys) http://identifiers.org/clinvar/259353 ^@ NM_004370.5(COL12A1):c.8524-6C>A http://identifiers.org/clinvar/259603 ^@ NM_004999.3(MYO6):c.1078+19dupT http://identifiers.org/clinvar/261343 ^@ NM_020632.2(ATP6V0A4):c.1812T>C (p.His604=) http://identifiers.org/clinvar/258803 ^@ NM_002769.4(PRSS1):c.738T>C (p.Asn246=) http://identifiers.org/clinvar/261793 ^@ NM_024915.3(GRHL2):c.1764-19C>T http://identifiers.org/clinvar/259003 ^@ NM_003235.4(TG):c.7920C>T (p.Tyr2640=) http://identifiers.org/clinvar/263132 ^@ NM_198488.3(FAM83H):c.1493C>T (p.Pro498Leu) http://identifiers.org/clinvar/261293 ^@ NM_020476.2(ANK1):c.1686G>A (p.Pro562=) http://identifiers.org/clinvar/260893 ^@ NM_017780.3(CHD7):c.2218G>A (p.Asp740Asn) http://identifiers.org/clinvar/261193 ^@ NM_019892.5(INPP5E):c.1299G>A (p.Ala433=) http://identifiers.org/clinvar/262093 ^@ NM_032634.3(PIGO):c.1119+7A>G http://identifiers.org/clinvar/255454 ^@ NM_000170.2(GLDC):c.2316-6dupA http://identifiers.org/clinvar/259553 ^@ NM_004817.3(TJP2):c.239+14delC http://identifiers.org/clinvar/259453 ^@ NM_004612.3(TGFBR1):c.805+39A>G http://identifiers.org/clinvar/261393 ^@ NM_020975.4(RET):c.1029C>T (p.Asn343=) http://identifiers.org/clinvar/261543 ^@ NM_022124.5(CDH23):c.1753-43T>C http://identifiers.org/clinvar/256104 ^@ NM_000429.2(MAT1A):c.1131C>T (p.Tyr377=) http://identifiers.org/clinvar/255504 ^@ NM_000195.4(HPS1):c.669-17T>C http://identifiers.org/clinvar/254754 ^@ NM_000051.3(ATM):c.6573-16A>G http://identifiers.org/clinvar/262982 ^@ NM_181507.1(HPS5):c.*5A>G http://identifiers.org/clinvar/260943 ^@ NM_017841.2(SDHAF2):c.36+17T>C http://identifiers.org/clinvar/261243 ^@ NM_020376.3(PNPLA2):c.678C>T (p.Leu226=) http://identifiers.org/clinvar/261693 ^@ NM_024312.4(GNPTAB):c.-41_-39delGGC http://identifiers.org/clinvar/255754 ^@ NM_000289.5(PFKM):c.1880+27A>G http://identifiers.org/clinvar/259053 ^@ NM_003482.3(KMT2D):c.10508-11T>G http://identifiers.org/clinvar/261843 ^@ NM_025114.3(CEP290):c.3310-48C>A http://identifiers.org/clinvar/255604 ^@ NM_000231.2(SGCG):c.860G>A (p.Ser287Asn) http://identifiers.org/clinvar/261493 ^@ NM_022067.3(VIPAS39):c.837-43T>C http://identifiers.org/clinvar/255954 ^@ NM_000369.2(TSHR):c.615-22_615-19dupCTCT http://identifiers.org/clinvar/255154 ^@ NM_000119.2(EPB42):c.543T>C (p.Asn181=) http://identifiers.org/clinvar/255304 ^@ NM_000138.4(FBN1):c.6497-23G>C http://identifiers.org/clinvar/260493 ^@ NM_014985.3(CEP152):c.3612G>T (p.Gly1204=) http://identifiers.org/clinvar/334940 ^@ NM_152383.4(DIS3L2):c.1680G>A (p.Leu560=) http://identifiers.org/clinvar/335040 ^@ NM_002242.4(KCNJ13):c.*957A>G http://identifiers.org/clinvar/336029 ^@ NM_022436.2(ABCG5):c.*416G>A http://identifiers.org/clinvar/336129 ^@ NM_133259.3(LRPPRC):c.*1121G>T http://identifiers.org/clinvar/336229 ^@ NM_001430.4(EPAS1):c.-111G>C http://identifiers.org/clinvar/336279 ^@ NM_001430.4(EPAS1):c.2457G>A (p.Val819=) http://identifiers.org/clinvar/336329 ^@ NM_139279.5(MCFD2):c.*3099G>A http://identifiers.org/clinvar/336079 ^@ NM_022437.2(ABCG8):c.1412-9_1412-8insT http://identifiers.org/clinvar/336179 ^@ NM_133259.3(LRPPRC):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/334139 ^@ NM_000384.2(APOB):c.4929G>A (p.Ala1643=) http://identifiers.org/clinvar/333988 ^@ NM_001608.3(ACADL):c.*621G>A http://identifiers.org/clinvar/337236 ^@ NM_000821.6(GGCX):c.*856T>C http://identifiers.org/clinvar/337286 ^@ NM_198843.2(SFTPB):c.*1539A>C http://identifiers.org/clinvar/334089 ^@ NM_000384.2(APOB):c.11904-15T>A http://identifiers.org/clinvar/337436 ^@ NM_144563.2(RPIA):c.858A>G (p.Leu286=) http://identifiers.org/clinvar/334390 ^@ NM_025216.2(WNT10A):c.-153G>A http://identifiers.org/clinvar/337036 ^@ NM_015120.4(ALMS1):c.*105A>G http://identifiers.org/clinvar/334640 ^@ NM_000092.4(COL4A4):c.*4491_*4494dupAAGA http://identifiers.org/clinvar/334440 ^@ NM_002181.3(IHH):c.753T>C (p.Pro251=) http://identifiers.org/clinvar/334840 ^@ NM_025243.3(SLC19A3):c.*1953G>A http://identifiers.org/clinvar/337336 ^@ NM_003896.3(ST3GAL5):c.556C>T (p.His186Tyr) http://identifiers.org/clinvar/335090 ^@ NM_004369.3(COL6A3):c.*663T>G http://identifiers.org/clinvar/335140 ^@ NM_004369.3(COL6A3):c.1562C>T (p.Ser521Leu) http://identifiers.org/clinvar/335240 ^@ NM_004321.7(KIF1A):c.*1237C>T http://identifiers.org/clinvar/335290 ^@ NM_004321.7(KIF1A):c.-55C>T http://identifiers.org/clinvar/343176 ^@ NM_004637.5(RAB7A):c.*922A>G http://identifiers.org/clinvar/334990 ^@ NM_000751.2(CHRND):c.*676G>A http://identifiers.org/clinvar/343476 ^@ NM_000532.4(PCCB):c.1402G>A (p.Ala468Thr) http://identifiers.org/clinvar/343576 ^@ NM_004628.4(XPC):c.537-16dupT http://identifiers.org/clinvar/342826 ^@ NM_053025.3(MYLK):c.*1630G>A http://identifiers.org/clinvar/343026 ^@ NM_000373.3(UMPS):c.*4263T>C http://identifiers.org/clinvar/343976 ^@ NM_020800.2(IFT80):c.710G>A (p.Trp237Ter) http://identifiers.org/clinvar/343076 ^@ NM_025265.3(TSEN2):c.768G>A (p.Glu256=) http://identifiers.org/clinvar/335979 ^@ NM_005633.3(SOS1):c.*2567T>A http://identifiers.org/clinvar/343126 ^@ NM_032638.4(GATA2):c.*410C>T http://identifiers.org/clinvar/344126 ^@ NM_005025.4(SERPINI1):c.404C>T (p.Ala135Val) http://identifiers.org/clinvar/350645 ^@ NM_032446.2(MEGF10):c.1058G>A (p.Arg353His) http://identifiers.org/clinvar/350745 ^@ NM_001999.3(FBN2):c.*514A>C http://identifiers.org/clinvar/357871 ^@ NM_014989.5(RIMS1):c.*517dupT http://identifiers.org/clinvar/358021 ^@ NM_004999.3(MYO6):c.*1738A>G http://identifiers.org/clinvar/355682 ^@ NM_203395.2(IYD):c.*31T>C http://identifiers.org/clinvar/351395 ^@ NM_054027.4(ANKH):c.*5912delT http://identifiers.org/clinvar/355782 ^@ NM_203395.2(IYD):c.*5785dupA http://identifiers.org/clinvar/355882 ^@ NM_033071.3(SYNE1):c.11866-12G>T http://identifiers.org/clinvar/356032 ^@ NM_003730.4(RNASET2):c.516T>C (p.Leu172=) http://identifiers.org/clinvar/356082 ^@ NM_198586.2(NHLRC1):c.397G>A (p.Ala133Thr) http://identifiers.org/clinvar/356232 ^@ NM_000434.3(NEU1):c.799-4T>C http://identifiers.org/clinvar/356432 ^@ NM_001014.4(RPS10):c.-43T>G http://identifiers.org/clinvar/356532 ^@ NM_182548.3(LHFPL5):c.*509_*510insTC http://identifiers.org/clinvar/360510 ^@ NM_004577.3(PSPH):c.145C>T (p.Arg49Trp) http://identifiers.org/clinvar/360710 ^@ NM_000941.2(POR):c.1104G>A (p.Thr368=) http://identifiers.org/clinvar/360960 ^@ NM_000089.3(COL1A2):c.2025+9A>G http://identifiers.org/clinvar/361410 ^@ NM_178857.5(RP1L1):c.428C>T (p.Ser143Phe) http://identifiers.org/clinvar/358121 ^@ NM_022726.3(ELOVL4):c.*1669T>G http://identifiers.org/clinvar/306265 ^@ NM_024698.5(SLC25A22):c.463G>T (p.Gly155Cys) http://identifiers.org/clinvar/306366 ^@ NM_012193.3(FZD4):c.*2956_*2960delTGGGTinsAGTTAAAAGC http://identifiers.org/clinvar/306416 ^@ NM_001814.5(CTSC):c.*253T>C http://identifiers.org/clinvar/299962 ^@ NM_002900.2(RBP3):c.2591G>A (p.Arg864Gln) http://identifiers.org/clinvar/306466 ^@ NM_005591.3(MRE11):c.*1083T>C http://identifiers.org/clinvar/300162 ^@ NM_033056.3(PCDH15):c.*135T>C http://identifiers.org/clinvar/306866 ^@ NM_000618.4(IGF1):c.*3707dupA http://identifiers.org/clinvar/307655 ^@ NM_004064.4(CDKN1B):c.-254C>G http://identifiers.org/clinvar/307905 ^@ NM_019844.3(SLCO1B3):c.1366C>T (p.Leu456Phe) http://identifiers.org/clinvar/307955 ^@ NM_006446.4(SLCO1B1):c.1495A>G (p.Ile499Val) http://identifiers.org/clinvar/301101 ^@ NM_001002295.1(GATA3):c.-413C>T http://identifiers.org/clinvar/308355 ^@ NM_139241.3(FGD4):c.*3920delA http://identifiers.org/clinvar/301151 ^@ NM_001002295.1(GATA3):c.*1072C>A http://identifiers.org/clinvar/308405 ^@ NM_012062.4(DNM1L):c.*420C>G http://identifiers.org/clinvar/308605 ^@ NM_017641.3(KIF21A):c.-339C>A http://identifiers.org/clinvar/301351 ^@ NM_004329.2(BMPR1A):c.530+13T>G http://identifiers.org/clinvar/301401 ^@ NM_005271.4(GLUD1):c.-44C>T http://identifiers.org/clinvar/301601 ^@ NM_014391.2(ANKRD1):c.*286C>T http://identifiers.org/clinvar/308905 ^@ NM_001844.4(COL2A1):c.4250A>G (p.Asn1417Ser) http://identifiers.org/clinvar/308955 ^@ NM_000289.5(PFKM):c.1338G>A (p.Gly446=) http://identifiers.org/clinvar/298462 ^@ NM_000392.4(ABCC2):c.3239T>C (p.Ile1080Thr) http://identifiers.org/clinvar/301901 ^@ NM_004621.5(TRPC6):c.2410-11A>G http://identifiers.org/clinvar/302001 ^@ NM_001080463.1(DYNC2H1):c.366+10G>A http://identifiers.org/clinvar/302251 ^@ NM_000051.3(ATM):c.4977A>T (p.Ile1659=) http://identifiers.org/clinvar/310749 ^@ NM_018979.3(WNK1):c.2468A>G (p.His823Arg) http://identifiers.org/clinvar/306666 ^@ NM_018979.3(WNK1):c.*47C>G http://identifiers.org/clinvar/306716 ^@ NM_018979.3(WNK1):c.*2244T>G http://identifiers.org/clinvar/311049 ^@ NM_001845.5(COL4A1):c.2732C>T (p.Pro911Leu) http://identifiers.org/clinvar/312938 ^@ NM_006177.3(NRL):c.*113C>A http://identifiers.org/clinvar/313088 ^@ NM_021914.7(CFL2):c.*925T>C http://identifiers.org/clinvar/315077 ^@ NM_177438.2(DICER1):c.*1449_*1450insT http://identifiers.org/clinvar/313388 ^@ NM_000161.2(GCH1):c.*20C>T http://identifiers.org/clinvar/313588 ^@ NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) http://identifiers.org/clinvar/313638 ^@ NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr) http://identifiers.org/clinvar/315627 ^@ NM_133647.1(SLC12A6):c.-26C>G http://identifiers.org/clinvar/315727 ^@ NM_152594.2(SPRED1):c.-201G>A http://identifiers.org/clinvar/323562 ^@ NM_000419.4(ITGA2B):c.858C>T (p.Val286=) http://identifiers.org/clinvar/315877 ^@ NM_016013.3(NDUFAF1):c.538A>G (p.Ser180Gly) http://identifiers.org/clinvar/323712 ^@ NM_005910.5(MAPT):c.*2991C>T http://identifiers.org/clinvar/315977 ^@ NM_173500.3(TTBK2):c.3418C>T (p.Pro1140Ser) http://identifiers.org/clinvar/314138 ^@ NM_031427.3(DNAL1):c.*6694A>G http://identifiers.org/clinvar/316027 ^@ NM_000119.2(EPB42):c.100+7G>A http://identifiers.org/clinvar/316077 ^@ NM_025137.3(SPG11):c.6950G>A (p.Gly2317Asp) http://identifiers.org/clinvar/316127 ^@ NM_014080.4(DUOX2):c.*624C>T http://identifiers.org/clinvar/324169 ^@ NM_017777.3(MKS1):c.102A>G (p.Thr34=) http://identifiers.org/clinvar/368427 ^@ NM_007137.3(ZNF81):c.*2719C>A http://identifiers.org/clinvar/368477 ^@ NM_000084.4(CLCN5):c.715C>T (p.Arg239Cys) http://identifiers.org/clinvar/324269 ^@ NM_018488.3(TBX4):c.*130_*137dupGTGTGTGT http://identifiers.org/clinvar/368577 ^@ NM_006306.3(SMC1A):c.*1559G>A http://identifiers.org/clinvar/324521 ^@ NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) http://identifiers.org/clinvar/324721 ^@ NM_031220.3(PITPNM3):c.*1656G>A http://identifiers.org/clinvar/315677 ^@ NM_005159.4(ACTC1):c.*777C>T http://identifiers.org/clinvar/315777 ^@ NM_152594.2(SPRED1):c.*4046G>A http://identifiers.org/clinvar/315927 ^@ NM_138477.2(CDAN1):c.2868C>T (p.Ala956=) http://identifiers.org/clinvar/325761 ^@ NM_017950.3(CCDC40):c.*383G>A http://identifiers.org/clinvar/316177 ^@ NM_014080.4(DUOX2):c.1302A>G (p.Arg434=) http://identifiers.org/clinvar/316277 ^@ NM_000338.2(SLC12A1):c.2929G>A (p.Gly977Ser) http://identifiers.org/clinvar/325811 ^@ NM_000199.3(SGSH):c.*1008C>T http://identifiers.org/clinvar/371832 ^@ NM_004168.3(SDHA):c.770+12A>G http://identifiers.org/clinvar/371982 ^@ NM_000077.4(CDKN2A):c.150+40C>T http://identifiers.org/clinvar/372082 ^@ NM_020975.4(RET):c.2393-14C>T http://identifiers.org/clinvar/371932 ^@ NM_006231.3(POLE):c.4005+20G>A http://identifiers.org/clinvar/372139 ^@ NM_002875.4(RAD51):c.877G>A (p.Ala293Thr) http://identifiers.org/clinvar/372206 ^@ NM_014339.6(IL17RA):c.196C>T (p.Arg66Ter) http://identifiers.org/clinvar/372265 ^@ NM_152522.5(ARL6IP6):c.192G>A (p.Trp64Ter) http://identifiers.org/clinvar/372732 ^@ NM_013339.3(ALG6):c.908_910delGTT (p.Cys303del) http://identifiers.org/clinvar/372885 ^@ NM_021007.2(SCN2A):c.2765G>A (p.Arg922His) http://identifiers.org/clinvar/372578 ^@ NM_005633.3(SOS1):c.1627T>C (p.Ser543Pro) http://identifiers.org/clinvar/372474 ^@ NM_018699.3(PRDM5):c.775dupG (p.Asp259Glyfs) http://identifiers.org/clinvar/372527 ^@ NM_000192.3(TBX5):c.670C>T (p.Gln224Ter) http://identifiers.org/clinvar/372318 ^@ NM_018451.4(CENPJ):c.469C>T (p.Gln157Ter) http://identifiers.org/clinvar/372419 ^@ NM_000256.3(MYBPC3):c.659A>G (p.Tyr220Cys) http://identifiers.org/clinvar/372680 ^@ NM_152594.2(SPRED1):c.38G>A (p.Ser13Asn) http://identifiers.org/clinvar/372834 ^@ NM_000138.4(FBN1):c.7432_7435delGAGG (p.Glu2478Metfs) http://identifiers.org/clinvar/372782 ^@ NM_000199.3(SGSH):c.235A>C (p.Thr79Pro) http://identifiers.org/clinvar/372938 ^@ NM_173483.3(CYP4F22):c.223-10C>G http://identifiers.org/clinvar/373777 ^@ NM_003491.3(NAA10):c.440T>C (p.Met147Thr) http://identifiers.org/clinvar/372368 ^@ NM_014009.3(FOXP3):c.1009C>T (p.Arg337Ter) http://identifiers.org/clinvar/372628 ^@ NM_031407.6(HUWE1):c.12680T>C (p.Leu4227Ser) http://identifiers.org/clinvar/373827 ^@ NM_007294.3(BRCA1):c.5006C>T (p.Ala1669Val) http://identifiers.org/clinvar/373877 ^@ NG_005905.2:g.(?_92501)_(168862_170280)del http://identifiers.org/clinvar/373980 ^@ NM_021008.3(DEAF1):c.667G>A (p.Gly223Ser) http://identifiers.org/clinvar/373930 ^@ NM_000834.3(GRIN2B):c.2002G>A (p.Asp668Asn) http://identifiers.org/clinvar/374234 ^@ NM_016529.5(ATP8A2):c.1883G>A (p.Cys628Tyr) http://identifiers.org/clinvar/374354 ^@ NM_005660.2(SLC35A2):c.617_620delTCGT (p.Val206Glyfs) http://identifiers.org/clinvar/374304 ^@ NC_000001.10:g.(161255241_?)_(?_161276497)del http://identifiers.org/clinvar/374422 ^@ NM_199292.2(TH):c.12C>T (p.Pro4=) http://identifiers.org/clinvar/374472 ^@ NM_000387.5(SLC25A20):c.138T>C (p.Pro46=) http://identifiers.org/clinvar/374522 ^@ NM_001127464.2(ZNF469):c.10277G>A (p.Arg3426Gln) http://identifiers.org/clinvar/374572 ^@ NM_001271208.1(NEB):c.183_184insCTGGCACAGCCAGCA (p.Ala61_Ser62insLeuAlaGlnProAla) http://identifiers.org/clinvar/374622 ^@ NM_014795.3(ZEB2):c.1542G>T (p.Pro514=) http://identifiers.org/clinvar/374672 ^@ NM_002972.3(SBF1):c.898-4G>A http://identifiers.org/clinvar/374722 ^@ NM_020822.2(KCNT1):c.1664G>A (p.Arg555His) http://identifiers.org/clinvar/374772 ^@ NM_015268.3(DNAJC13):c.1059A>G (p.Glu353=) http://identifiers.org/clinvar/374832 ^@ HRG, CYS223ARG http://identifiers.org/clinvar/374882 ^@ NM_016011.3(MECR):c.772-C>T http://identifiers.org/clinvar/374949 ^@ NM_000109.3(DMD):c.679C>A (p.Leu227Ile) http://identifiers.org/clinvar/375219 ^@ NM_003500.3(ACOX2):c.207T>A (p.Tyr69Ter) http://identifiers.org/clinvar/375334 ^@ NM_024876.3(COQ8B):c.101G>A (p.Trp34Ter) http://identifiers.org/clinvar/375385 ^@ NM_032943.4(SYTL2):c.890delG (p.Ser297Thrfs) http://identifiers.org/clinvar/375440 ^@ NM_153427.2(PITX2):c.555_576del22 (p.Thr186Serfs) http://identifiers.org/clinvar/375626 ^@ NM_001170629.1(CHD8):c.4762A>T (p.Arg1588Trp) http://identifiers.org/clinvar/375677 ^@ NM_016239.3(MYO15A):c.8224+3A>G http://identifiers.org/clinvar/375771 ^@ NM_000527.4(LDLR):c.-124dupA http://identifiers.org/clinvar/375821 ^@ NM_000527.4(LDLR):c.1730G>A (p.Trp577Ter) http://identifiers.org/clinvar/375874 ^@ NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) http://identifiers.org/clinvar/375924 ^@ NM_000222.2(KIT):c.1965T>G (p.Asn655Lys) http://identifiers.org/clinvar/391406 ^@ NM_015120.4(ALMS1):c.12117+14G>T http://identifiers.org/clinvar/388867 ^@ NM_001135659.2(NRXN1):c.1458T>C (p.Asn486=) http://identifiers.org/clinvar/387328 ^@ NM_015120.4(ALMS1):c.3314G>A (p.Gly1105Asp) http://identifiers.org/clinvar/389417 ^@ NM_178862.2(STT3B):c.2322A>G (p.Ala774=) http://identifiers.org/clinvar/386528 ^@ NM_000249.3(MLH1):c.306+3A>G http://identifiers.org/clinvar/386378 ^@ NM_006514.3(SCN10A):c.4090-19C>T http://identifiers.org/clinvar/381594 ^@ NM_153240.4(NPHP3):c.3422T>C (p.Leu1141Pro) http://identifiers.org/clinvar/386028 ^@ NM_000249.3(MLH1):c.117-16C>G http://identifiers.org/clinvar/385339 ^@ NM_001148.4(ANK2):c.2739C>G (p.Ala913=) http://identifiers.org/clinvar/377481 ^@ NM_001148.4(ANK2):c.11628A>G (p.Glu3876=) http://identifiers.org/clinvar/380191 ^@ NM_018475.4(TMEM165):c.294C>T (p.Val98=) http://identifiers.org/clinvar/386878 ^@ NM_005051.2(QARS):c.1863+18A>C http://identifiers.org/clinvar/383086 ^@ NM_005051.2(QARS):c.118-12C>T http://identifiers.org/clinvar/380492 ^@ NM_000158.3(GBE1):c.24G>A (p.Ala8=) http://identifiers.org/clinvar/380793 ^@ NM_024582.4(FAT4):c.2944T>C (p.Leu982=) http://identifiers.org/clinvar/387778 ^@ NM_001999.3(FBN2):c.2487G>T (p.Thr829=) http://identifiers.org/clinvar/392006 ^@ NM_001999.3(FBN2):c.1078+20G>A http://identifiers.org/clinvar/389867 ^@ NM_001999.3(FBN2):c.5692G>A (p.Glu1898Lys) http://identifiers.org/clinvar/380141 ^@ NM_003060.3(SLC22A5):c.1441G>A (p.Val481Ile) http://identifiers.org/clinvar/384989 ^@ NM_014049.4(ACAD9):c.634-5C>T http://identifiers.org/clinvar/380542 ^@ NM_000426.3(LAMA2):c.1814C>T (p.Thr605Ile) http://identifiers.org/clinvar/385239 ^@ NM_022464.4(SIL1):c.-37C>T http://identifiers.org/clinvar/384939 ^@ NM_002538.3(OCLN):c.237C>T (p.Ile79=) http://identifiers.org/clinvar/384238 ^@ NM_013391.3(DMGDH):c.1479G>A (p.Pro493=) http://identifiers.org/clinvar/390856 ^@ NM_002291.2(LAMB1):c.3391+19C>T http://identifiers.org/clinvar/392406 ^@ NM_033071.3(SYNE1):c.9021C>A (p.His3007Gln) http://identifiers.org/clinvar/392356 ^@ NM_000089.3(COL1A2):c.2078G>A (p.Arg693Gln) http://identifiers.org/clinvar/383487 ^@ NM_006416.4(SLC35A1):c.354+19A>G http://identifiers.org/clinvar/391656 ^@ NM_005045.3(RELN):c.3655A>G (p.Ile1219Val) http://identifiers.org/clinvar/386578 ^@ NM_000083.2(CLCN1):c.1977C>A (p.Ala659=) http://identifiers.org/clinvar/385089 ^@ NM_001540.3(HSPB1):c.573T>C (p.Leu191=) http://identifiers.org/clinvar/385139 ^@ NM_003165.3(STXBP1):c.237A>T (p.Pro79=) http://identifiers.org/clinvar/389067 ^@ NM_000445.4(PLEC):c.475C>T (p.Leu159=) http://identifiers.org/clinvar/384689 ^@ NM_013352.3(DSE):c.1142T>C (p.Val381Ala) http://identifiers.org/clinvar/382936 ^@ NM_020822.2(KCNT1):c.1626A>G (p.Gly542=) http://identifiers.org/clinvar/380994 ^@ NM_003640.4(IKBKAP):c.1143G>A (p.Val381=) http://identifiers.org/clinvar/386978 ^@ NM_012210.3(TRIM32):c.660G>A (p.Val220=) http://identifiers.org/clinvar/392556 ^@ NM_033071.3(SYNE1):c.3141T>A (p.Thr1047=) http://identifiers.org/clinvar/391856 ^@ NM_017780.3(CHD7):c.4247C>G (p.Thr1416Arg) http://identifiers.org/clinvar/391556 ^@ NM_032634.3(PIGO):c.2854+10C>T http://identifiers.org/clinvar/381694 ^@ NM_003165.3(STXBP1):c.247-13C>G http://identifiers.org/clinvar/384488 ^@ NM_000264.3(PTCH1):c.3291C>T (p.Thr1097=) http://identifiers.org/clinvar/385389 ^@ NM_020822.2(KCNT1):c.601-13C>T http://identifiers.org/clinvar/392456 ^@ NM_004612.3(TGFBR1):c.733G>A (p.Glu245Lys) http://identifiers.org/clinvar/382986 ^@ NM_012160.4(FBXL4):c.429A>G (p.Leu143=) http://identifiers.org/clinvar/383337 ^@ NM_002291.2(LAMB1):c.3444G>A (p.Thr1148=) http://identifiers.org/clinvar/380843 ^@ NM_002291.2(LAMB1):c.1135C>T (p.Pro379Ser) http://identifiers.org/clinvar/133120 ^@ NM_000540.2(RYR1):c.2712G>A (p.Pro904=) http://identifiers.org/clinvar/133170 ^@ NM_000540.2(RYR1):c.677T>A (p.Met226Lys) http://identifiers.org/clinvar/133220 ^@ NM_000540.2(RYR1):c.8198G>A (p.Gly2733Asp) http://identifiers.org/clinvar/133296 ^@ NM_015275.2(WASHC4):c.3056C>G (p.Pro1019Arg) http://identifiers.org/clinvar/133362 ^@ NM_017617.4(NOTCH1):c.5167+142A>C http://identifiers.org/clinvar/133412 ^@ NM_003820.3(TNFRSF14):c.305-171G>A http://identifiers.org/clinvar/133462 ^@ NM_004304.4(ALK):c.2039C>T (p.Thr680Ile) http://identifiers.org/clinvar/133513 ^@ NM_000038.5(APC):c.7543A>G (p.Ile2515Val) http://identifiers.org/clinvar/133563 ^@ NM_152641.3(ARID2):c.4223A>G (p.Lys1408Arg) http://identifiers.org/clinvar/133613 ^@ NM_000051.3(ATM):c.3139A>G (p.Lys1047Glu) http://identifiers.org/clinvar/133663 ^@ NM_004656.3(BAP1):c.1408G>A (p.Gly470Arg) http://identifiers.org/clinvar/133713 ^@ NM_000057.3(BLM):c.1741A>G (p.Thr581Ala) http://identifiers.org/clinvar/133767 ^@ NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile) http://identifiers.org/clinvar/133817 ^@ NM_001321786.1(CBLB):c.1462A>G (p.Met488Val) http://identifiers.org/clinvar/133867 ^@ NM_015083.2(CDK12):c.4375T>C (p.Tyr1459His) http://identifiers.org/clinvar/133917 ^@ NM_015125.4(CIC):c.4616C>T (p.Pro1539Leu) http://identifiers.org/clinvar/133967 ^@ NM_177438.2(DICER1):c.2614G>A (p.Ala872Thr) http://identifiers.org/clinvar/134017 ^@ NM_001077706.2(ECT2L):c.1145C>A (p.Ala382Asp) http://identifiers.org/clinvar/134069 ^@ NM_001005862.2(ERBB2):c.1079C>T (p.Ala360Val) http://identifiers.org/clinvar/134119 ^@ NM_000122.1(ERCC3):c.1996G>A (p.Asp666Asn) http://identifiers.org/clinvar/134169 ^@ NM_000123.3(ERCC5):c.3356C>T (p.Ala1119Val) http://identifiers.org/clinvar/134219 ^@ NM_001178083.1(EXT2):c.1196G>A (p.Arg399Lys) http://identifiers.org/clinvar/134269 ^@ NM_000135.2(FANCA):c.3583C>T (p.Arg1195Trp) http://identifiers.org/clinvar/134320 ^@ NM_001018115.2(FANCD2):c.2965C>G (p.Pro989Ala) http://identifiers.org/clinvar/134371 ^@ NM_000043.5(FAS):c.46G>A (p.Ala16Thr) http://identifiers.org/clinvar/134421 ^@ NM_030917.3(FIP1L1):c.101A>G (p.His34Arg) http://identifiers.org/clinvar/134471 ^@ NM_001002295.1(GATA3):c.1186G>A (p.Ala396Thr) http://identifiers.org/clinvar/134521 ^@ NM_001282386.1(IDH1):c.665G>T (p.Arg222Leu) http://identifiers.org/clinvar/134978 ^@ NM_024408.3(NOTCH2):c.5065A>T (p.Ile1689Phe) http://identifiers.org/clinvar/135211 ^@ NM_014159.6(SETD2):c.2155A>G (p.Asn719Asp) http://identifiers.org/clinvar/135262 ^@ NM_005631.4(SMO):c.2314C>T (p.Arg772Cys) http://identifiers.org/clinvar/135312 ^@ NM_001127208.2(TET2):c.2440C>T (p.Arg814Cys) http://identifiers.org/clinvar/135362 ^@ NM_000368.4(TSC1):c.1282_1283delGCinsCT (p.Ala428Leu) http://identifiers.org/clinvar/135413 ^@ NM_000377.2(WAS):c.391G>A (p.Glu131Lys) http://identifiers.org/clinvar/135463 ^@ NM_000380.3(XPA):c.683G>A (p.Arg228Gln) http://identifiers.org/clinvar/136150 ^@ NM_032043.2(BRIP1):c.386C>T (p.Pro129Leu) http://identifiers.org/clinvar/136210 ^@ NM_000249.3(MLH1):c.791-79A>G http://identifiers.org/clinvar/136261 ^@ NM_000018.3(ACADVL):c.693T>A (p.Ser231=) http://identifiers.org/clinvar/136312 ^@ NM_006796.2(AFG3L2):c.752+6C>T http://identifiers.org/clinvar/136363 ^@ NM_000692.4(ALDH1B1):c.526G>A (p.Val176Ile) http://identifiers.org/clinvar/186452 ^@ NM_007294.3(BRCA1):c.3658delG (p.Asp1220Metfs) http://identifiers.org/clinvar/187054 ^@ NM_007294.3(BRCA1):c.3428C>G (p.Ser1143Cys) http://identifiers.org/clinvar/187504 ^@ NM_007294.3(BRCA1):c.2881A>C (p.Asn961His) http://identifiers.org/clinvar/186604 ^@ NM_058216.2(RAD51C):c.653_654delAG (p.Glu218Valfs) http://identifiers.org/clinvar/185363 ^@ NM_058216.2(RAD51C):c.744T>C (p.Phe248=) http://identifiers.org/clinvar/186352 ^@ NM_032043.2(BRIP1):c.3605A>G (p.Glu1202Gly) http://identifiers.org/clinvar/187654 ^@ NM_032043.2(BRIP1):c.2479C>A (p.Gln827Lys) http://identifiers.org/clinvar/187004 ^@ NM_032043.2(BRIP1):c.2228A>C (p.Tyr743Ser) http://identifiers.org/clinvar/187404 ^@ NM_032043.2(BRIP1):c.668A>G (p.Gln223Arg) http://identifiers.org/clinvar/184863 ^@ NM_000546.5(TP53):c.413C>T (p.Ala138Val) http://identifiers.org/clinvar/187254 ^@ NM_000546.5(TP53):c.394_409del16 (p.Lys132Trpfs) http://identifiers.org/clinvar/186402 ^@ NM_000455.4(STK11):c.207G>T (p.Ser69=) http://identifiers.org/clinvar/184713 ^@ NM_000455.4(STK11):c.471C>T (p.Phe157=) http://identifiers.org/clinvar/184313 ^@ NM_000455.4(STK11):c.631C>T (p.Arg211Trp) http://identifiers.org/clinvar/189148 ^@ NM_000441.1(SLC26A4):c.365dupT (p.Ile124Tyrfs) http://identifiers.org/clinvar/189198 ^@ NM_001199752.2(CPT1C):c.109C>T (p.Arg37Cys) http://identifiers.org/clinvar/189266 ^@ NM_014795.3(ZEB2):c.2687_2688dupCA (p.Ala897Glnfs) http://identifiers.org/clinvar/189318 ^@ NM_005859.4(PURA):c.616A>T (p.Ile206Phe) http://identifiers.org/clinvar/189473 ^@ NM_000314.6(PTEN):c.-1044T>A http://identifiers.org/clinvar/189411 ^@ NM_000314.6(PTEN):c.511C>T (p.Gln171Ter) http://identifiers.org/clinvar/189638 ^@ NM_004992.3(MECP2):c.1041_*29del450 http://identifiers.org/clinvar/189738 ^@ NM_001110792.1(MECP2):c.998_1303del306insG (p.Lys333Serfs) http://identifiers.org/clinvar/189588 ^@ NM_003159.2(CDKL5):c.404-1385_554+59del http://identifiers.org/clinvar/189538 ^@ NM_003159.2(CDKL5):c.405T>C (p.Asp135=) http://identifiers.org/clinvar/189688 ^@ NM_004992.3:c.(?_27)_(1185_?)del http://identifiers.org/clinvar/189793 ^@ NM_183059.2(RD3):c.137_138delAG (p.Glu46Alafs) http://identifiers.org/clinvar/189922 ^@ NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe) http://identifiers.org/clinvar/189972 ^@ NM_001165963.1(SCN1A):c.2100delC (p.Met701Trpfs) http://identifiers.org/clinvar/189872 ^@ NM_001165963.1(SCN1A):c.1072C>T (p.Pro358Ser) http://identifiers.org/clinvar/190022 ^@ NM_001165963.1(SCN1A):c.1663_2176del http://identifiers.org/clinvar/190207 ^@ NM_000380.3(XPA):c.545_546insTA (p.Leu182Phefs) http://identifiers.org/clinvar/190157 ^@ NM_000124.3(ERCC6):c.1999delA (p.Thr667Profs) http://identifiers.org/clinvar/190263 ^@ NM_014361.3(CNTN5):c.3016G>A (p.Val1006Ile) http://identifiers.org/clinvar/190341 ^@ NM_002055.4(GFAP):c.365_373dupAGCTGCGGC (p.Arg124_Leu125insGlnLeuArg) http://identifiers.org/clinvar/190401 ^@ NM_000257.3(MYH7):c.4850_4852delAGA (p.Lys1617del) http://identifiers.org/clinvar/228024 ^@ NM_001128228.2(TPRN):c.1996G>A (p.Val666Met) http://identifiers.org/clinvar/227773 ^@ NM_001277269.1(OTOG):c.2868C>T (p.Phe956=) http://identifiers.org/clinvar/228424 ^@ NM_020297.3(ABCC9):c.*5G>C http://identifiers.org/clinvar/228274 ^@ NM_198080.3(MSRB3):c.285-1G>A http://identifiers.org/clinvar/227823 ^@ NM_173591.3(OTOGL):c.4819C>A (p.Arg1607=) http://identifiers.org/clinvar/228324 ^@ NM_000059.3(BRCA2):c.3187C>T (p.Gln1063Ter) http://identifiers.org/clinvar/228374 ^@ NM_016239.3(MYO15A):c.9303+1G>T http://identifiers.org/clinvar/228474 ^@ NM_145045.4(CCDC151):c.914A>G (p.Lys305Arg) http://identifiers.org/clinvar/227974 ^@ NM_001039876.2(SYNE4):c.1127C>T (p.Ala376Val) http://identifiers.org/clinvar/227573 ^@ NM_001145809.1(MYH14):c.1155C>T (p.Asn385=) http://identifiers.org/clinvar/229363 ^@ NM_001039141.2(TRIOBP):c.5705A>C (p.Lys1902Thr) http://identifiers.org/clinvar/234631 ^@ NM_000535.6(PMS2):c.321G>C (p.Arg107=) http://identifiers.org/clinvar/234781 ^@ NM_000059.3(BRCA2):c.5005T>A (p.Leu1669Ile) http://identifiers.org/clinvar/234882 ^@ NM_000059.3(BRCA2):c.6811A>G (p.Lys2271Glu) http://identifiers.org/clinvar/234832 ^@ NM_032043.2(BRIP1):c.1_2delAT (p.Met1Valfs) http://identifiers.org/clinvar/234681 ^@ NM_001130823.2(DNMT1):c.919A>G (p.Lys307Glu) http://identifiers.org/clinvar/234731 ^@ NM_181882.2(PRX):c.1825C>T (p.Pro609Ser) http://identifiers.org/clinvar/232004 ^@ NM_001128425.1(MUTYH):c.1513T>C (p.Cys505Arg) http://identifiers.org/clinvar/230915 ^@ NM_001128425.1(MUTYH):c.337T>A (p.Trp113Arg) http://identifiers.org/clinvar/230465 ^@ NM_000251.2(MSH2):c.149C>A (p.Ala50Glu) http://identifiers.org/clinvar/231904 ^@ NM_000251.2(MSH2):c.763A>G (p.Ser255Gly) http://identifiers.org/clinvar/229865 ^@ NM_000251.2(MSH2):c.1303G>A (p.Val435Ile) http://identifiers.org/clinvar/230615 ^@ NM_000251.2(MSH2):c.1986G>A (p.Gln662=) http://identifiers.org/clinvar/232655 ^@ NM_000251.2(MSH2):c.2595C>T (p.Ile865=) http://identifiers.org/clinvar/234147 ^@ NM_000179.2(MSH6):c.3607C>T (p.His1203Tyr) http://identifiers.org/clinvar/230215 ^@ NM_000038.5(APC):c.251G>T (p.Gly84Val) http://identifiers.org/clinvar/231065 ^@ NM_000038.5(APC):c.443T>A (p.Leu148His) http://identifiers.org/clinvar/232855 ^@ NM_000038.5(APC):c.588C>T (p.Ile196=) http://identifiers.org/clinvar/231954 ^@ NM_000038.5(APC):c.1902T>G (p.Ser634Arg) http://identifiers.org/clinvar/264040 ^@ NM_005477.2(HCN4):c.1155C>T (p.Leu385=) http://identifiers.org/clinvar/263740 ^@ NM_001943.4(DSG2):c.273A>G (p.Gly91=) http://identifiers.org/clinvar/264596 ^@ NM_000363.4(TNNI3):c.143A>C (p.Gln48Pro) http://identifiers.org/clinvar/264546 ^@ NM_020433.4(JPH2):c.624C>T (p.Ala208=) http://identifiers.org/clinvar/263890 ^@ NM_030777.3(SLC2A10):c.1548G>T (p.Arg516=) http://identifiers.org/clinvar/263690 ^@ NM_006440.4(TXNRD2):c.46C>T (p.Arg16Trp) http://identifiers.org/clinvar/264651 ^@ NM_001204.6(BMPR2):c.1277-10_1277-9insGGG http://identifiers.org/clinvar/264711 ^@ NM_017905.4(TMCO3):c.-129G>A http://identifiers.org/clinvar/264761 ^@ NM_001242896.1(DEPDC5):c.3241A>C (p.Thr1081Pro) http://identifiers.org/clinvar/264866 ^@ NM_000059.3(BRCA2):c.317-1775C>T http://identifiers.org/clinvar/264966 ^@ NM_000059.3(BRCA2):c.632-679A>G http://identifiers.org/clinvar/264916 ^@ NM_000059.3(BRCA2):c.8332-1173del http://identifiers.org/clinvar/264816 ^@ NM_007294.3(BRCA1):c.5194-2381T>G http://identifiers.org/clinvar/265476 ^@ NM_002016.1(FLG):c.7267_7268delCA (p.Gln2423Valfs) http://identifiers.org/clinvar/265276 ^@ NM_003722.4(TP63):c.956G>A (p.Arg319His) http://identifiers.org/clinvar/265376 ^@ NM_000038.5(APC):c.1715T>A (p.Leu572Ter) http://identifiers.org/clinvar/265577 ^@ NM_000038.5(APC):c.7931_7937delTTTATCA (p.Ile2644Lysfs) http://identifiers.org/clinvar/265426 ^@ NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter) http://identifiers.org/clinvar/265627 ^@ NM_020732.3(ARID1B):c.3025+1G>A http://identifiers.org/clinvar/265121 ^@ NM_000501.3(ELN):c.2058delA (p.Gly688Valfs) http://identifiers.org/clinvar/265071 ^@ NM_024537.3(CARS2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/265018 ^@ NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) http://identifiers.org/clinvar/265326 ^@ NM_024675.3(PALB2):c.1424C>G (p.Ser475Ter) http://identifiers.org/clinvar/265526 ^@ NM_006565.3(CTCF):c.1220A>G (p.Tyr407Cys) http://identifiers.org/clinvar/265171 ^@ NM_022041.3(GAN):c.1445C>T (p.Ala482Val) http://identifiers.org/clinvar/265677 ^@ NM_000214.2(JAG1):c.377_378delTCinsAA (p.Phe126Ter) http://identifiers.org/clinvar/265223 ^@ NM_000425.4(L1CAM):c.1453C>T (p.Arg485Ter) http://identifiers.org/clinvar/265762 ^@ NM_021815.4(SLC5A7):c.313C>T (p.Pro105Ser) http://identifiers.org/clinvar/265866 ^@ NM_005911.5(MAT2A):c.1031A>C (p.Glu344Ala) http://identifiers.org/clinvar/265916 ^@ NM_174936.3(PCSK9):c.60_65dupGCTGCT (p.Leu23_Gly24insLeuLeu) http://identifiers.org/clinvar/265970 ^@ NM_003611.2(OFD1):c.508_509delGA (p.Asp170Phefs*4) http://identifiers.org/clinvar/266348 ^@ NM_007294.3(BRCA1):c.3262_3277del16 (p.Val1088Serfs) http://identifiers.org/clinvar/267406 ^@ c.8786+1G>A http://identifiers.org/clinvar/267694 ^@ NM_000059.3(BRCA2):c.8332-?_8632+?del http://identifiers.org/clinvar/267644 ^@ NM_000059.3(BRCA2):c.426-6_438del http://identifiers.org/clinvar/267594 ^@ NM_007294.3(BRCA1):c.5297T>A (p.Ile1766Asn) http://identifiers.org/clinvar/267494 ^@ NM_007294.3(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244Aspfs) http://identifiers.org/clinvar/267544 ^@ NM_007294.3(BRCA1):c.442-1129_547+223del http://identifiers.org/clinvar/267773 ^@ NM_006087.3(TUBB4A):c.4C>T (p.R2W) http://identifiers.org/clinvar/267823 ^@ 46;XY;t(6;11)(q23;q21)or(q25;q21)dn http://identifiers.org/clinvar/267874 ^@ 46;XX;inv(2)(p23q31.3) http://identifiers.org/clinvar/267924 ^@ 46;XY;t(16;20)(q23.1;p11.22) http://identifiers.org/clinvar/267974 ^@ 46;XY;t(1;15)(p22.3;q15) http://identifiers.org/clinvar/268024 ^@ 46;XY;t(2;19)(q12;p13.2)dn http://identifiers.org/clinvar/268084 ^@ NM_001177676.1(GPR68):c.386_835del450 (p.Phe129_Asn278del) http://identifiers.org/clinvar/268141 ^@ NM_005506.3(SCARB2):c.704+5G>A http://identifiers.org/clinvar/268212 ^@ NM_000113.2(TOR1A):c.40_45delGCGCCG (p.Ala14_Pro15del) http://identifiers.org/clinvar/293634 ^@ NM_000130.4(F5):c.886G>A (p.Ala296Thr) http://identifiers.org/clinvar/293684 ^@ NM_152281.2(GORAB):c.*1298T>C http://identifiers.org/clinvar/293884 ^@ NM_002065.6(GLUL):c.*2631G>A http://identifiers.org/clinvar/293984 ^@ NM_005562.2(LAMC2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/294034 ^@ NM_005562.2(LAMC2):c.*816A>T http://identifiers.org/clinvar/294284 ^@ NM_031935.2(HMCN1):c.15182C>T (p.Ala5061Val) http://identifiers.org/clinvar/294334 ^@ NM_003748.3(ALDH4A1):c.*1239G>C http://identifiers.org/clinvar/294584 ^@ NM_001994.2(F13B):c.796G>C (p.Val266Leu) http://identifiers.org/clinvar/294634 ^@ NM_018136.4(ASPM):c.3845T>C (p.Leu1282Pro) http://identifiers.org/clinvar/294684 ^@ NM_201253.2(CRB1):c.2917C>G (p.Leu973Val) http://identifiers.org/clinvar/293784 ^@ NM_022089.3(ATP13A2):c.2263C>G (p.Gln755Glu) http://identifiers.org/clinvar/294834 ^@ NM_001005337.2(PKP1):c.*177delT http://identifiers.org/clinvar/293734 ^@ NM_000639.2(FASLG):c.278C>T (p.Ala93Val) http://identifiers.org/clinvar/293834 ^@ NM_018122.4(DARS2):c.*642C>A http://identifiers.org/clinvar/294884 ^@ NM_001005337.2(PKP1):c.*2571_*2572insCCACCCTGACCC http://identifiers.org/clinvar/294934 ^@ NM_003465.2(CHIT1):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/343326 ^@ NM_014382.3(ATP2C1):c.1348G>A (p.Ala450Thr) http://identifiers.org/clinvar/336586 ^@ NM_001135659.2(NRXN1):c.-1310G>C http://identifiers.org/clinvar/343876 ^@ NM_004733.3(SLC33A1):c.1267-4G>A http://identifiers.org/clinvar/343926 ^@ NM_024996.5(GFM1):c.702A>G (p.Arg234=) http://identifiers.org/clinvar/344815 ^@ NM_006371.4(CRTAP):c.*67C>A http://identifiers.org/clinvar/344965 ^@ NM_001106.3(ACVR2B):c.*2362_*2364delAAT http://identifiers.org/clinvar/345215 ^@ NM_016006.4(ABHD5):c.26A>G (p.Asp9Gly) http://identifiers.org/clinvar/345265 ^@ NM_016006.4(ABHD5):c.*2542A>G http://identifiers.org/clinvar/345315 ^@ NM_182760.3(SUMF1):c.891C>T (p.Asn297=) http://identifiers.org/clinvar/345415 ^@ NM_020208.3(SLC6A20):c.599C>T (p.Ala200Val) http://identifiers.org/clinvar/345465 ^@ NM_024513.3(FYCO1):c.*1748C>T http://identifiers.org/clinvar/345565 ^@ NM_002222.5(ITPR1):c.625-14A>T http://identifiers.org/clinvar/337136 ^@ NM_013247.4(HTRA2):c.1131A>G (p.Leu377=) http://identifiers.org/clinvar/337086 ^@ NM_004082.4(DCTN1):c.1822G>A (p.Val608Met) http://identifiers.org/clinvar/344915 ^@ NM_001106.3(ACVR2B):c.283G>C (p.Glu95Gln) http://identifiers.org/clinvar/345815 ^@ NM_000094.3(COL7A1):c.7037G>A (p.Arg2346His) http://identifiers.org/clinvar/337386 ^@ NM_022912.2(REEP1):c.417+15G>C http://identifiers.org/clinvar/337186 ^@ NM_000821.6(GGCX):c.*3924A>G http://identifiers.org/clinvar/345115 ^@ NM_198056.2(SCN5A):c.4827G>A (p.Ser1609=) http://identifiers.org/clinvar/337486 ^@ NM_017849.3(TMEM127):c.*1233C>T http://identifiers.org/clinvar/345165 ^@ NM_018075.4(ANO10):c.*438A>T http://identifiers.org/clinvar/337536 ^@ NM_014014.4(SNRNP200):c.5317C>T (p.Leu1773=) http://identifiers.org/clinvar/337586 ^@ NM_020184.3(CNNM4):c.1474G>A (p.Gly492Ser) http://identifiers.org/clinvar/337636 ^@ NM_001079.3(ZAP70):c.1617C>T (p.Pro539=) http://identifiers.org/clinvar/345365 ^@ NM_020208.3(SLC6A20):c.*1786_*1787delAA http://identifiers.org/clinvar/345615 ^@ NM_015175.2(NBEAL2):c.440A>G (p.Asp147Gly) http://identifiers.org/clinvar/345665 ^@ NM_015175.2(NBEAL2):c.4367G>A (p.Arg1456His) http://identifiers.org/clinvar/345765 ^@ NM_033629.4(TREX1):c.-199A>G http://identifiers.org/clinvar/345915 ^@ NM_002222.5(ITPR1):c.*1169_*1170insAA http://identifiers.org/clinvar/342776 ^@ NM_001023570.3(IQCB1):c.1129+13A>G http://identifiers.org/clinvar/346065 ^@ NM_144499.2(GNAT1):c.*1187G>A http://identifiers.org/clinvar/342926 ^@ NM_000373.3(UMPS):c.18A>G (p.Ala6=) http://identifiers.org/clinvar/342876 ^@ NM_053025.3(MYLK):c.4104C>T (p.Ile1368=) http://identifiers.org/clinvar/347554 ^@ NM_031296.2(RAB33B):c.-167A>C http://identifiers.org/clinvar/342976 ^@ NM_000373.3(UMPS):c.*2605G>A http://identifiers.org/clinvar/343226 ^@ NM_052985.3(IFT122):c.-206A>G http://identifiers.org/clinvar/347854 ^@ NM_004744.4(LRAT):c.*298_*301delAATT http://identifiers.org/clinvar/347954 ^@ NM_004453.3(ETFDH):c.-97G>A http://identifiers.org/clinvar/343276 ^@ NM_000539.3(RHO):c.381C>G (p.Ser127=) http://identifiers.org/clinvar/343376 ^@ NM_153240.4(NPHP3):c.3563A>G (p.Lys1188Arg) http://identifiers.org/clinvar/348104 ^@ NM_012224.2(NEK1):c.2239C>G (p.His747Asp) http://identifiers.org/clinvar/343426 ^@ NM_001063.3(TF):c.154G>A (p.Asp52Asn) http://identifiers.org/clinvar/343526 ^@ NM_024334.2(TMEM43):c.*850G>A http://identifiers.org/clinvar/343626 ^@ NM_001184.3(ATR):c.260G>T (p.Ser87Ile) http://identifiers.org/clinvar/358171 ^@ NM_183050.3(BCKDHB):c.987C>T (p.His329=) http://identifiers.org/clinvar/358221 ^@ NM_006416.4(SLC35A1):c.*302A>G http://identifiers.org/clinvar/358371 ^@ NM_005045.3(RELN):c.*136G>A http://identifiers.org/clinvar/353892 ^@ NM_002495.3(NDUFS4):c.*46G>A http://identifiers.org/clinvar/354192 ^@ NM_003719.3(PDE8B):c.*512T>C http://identifiers.org/clinvar/358471 ^@ NM_006348.3(COG5):c.631+10T>G http://identifiers.org/clinvar/353942 ^@ NM_001104631.1(PDE4D):c.*2484T>C http://identifiers.org/clinvar/353992 ^@ NM_001104631.1(PDE4D):c.1287+6G>A http://identifiers.org/clinvar/354342 ^@ NM_002454.2(MTRR):c.6G>A (p.Arg2=) http://identifiers.org/clinvar/354042 ^@ NM_017755.5(NSUN2):c.*140T>C http://identifiers.org/clinvar/354142 ^@ NM_003719.3(PDE8B):c.-24C>T http://identifiers.org/clinvar/358621 ^@ NM_014491.3(FOXP2):c.*208T>C http://identifiers.org/clinvar/358771 ^@ NM_012338.3(TSPAN12):c.-251delT http://identifiers.org/clinvar/354242 ^@ NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) http://identifiers.org/clinvar/362609 ^@ NM_006129.4(BMP1):c.*325C>G http://identifiers.org/clinvar/354292 ^@ NM_000046.3(ARSB):c.*1147G>A http://identifiers.org/clinvar/362659 ^@ NM_000825.3(GNRH1):c.-854A>C http://identifiers.org/clinvar/363309 ^@ NM_006269.1(RP1):c.5701C>T (p.Leu1901Phe) http://identifiers.org/clinvar/355081 ^@ NM_000493.3(COL10A1):c.*317T>A http://identifiers.org/clinvar/363409 ^@ NM_017813.4(IMPAD1):c.336G>A (p.Leu112=) http://identifiers.org/clinvar/363459 ^@ NM_017780.3(CHD7):c.3299G>A (p.Arg1100His) http://identifiers.org/clinvar/355182 ^@ NM_000165.4(GJA1):c.*1018_*1021delTTTT http://identifiers.org/clinvar/363559 ^@ NM_000370.3(TTPA):c.663+10A>G http://identifiers.org/clinvar/355332 ^@ NM_006208.2(ENPP1):c.313+45_313+46delGT http://identifiers.org/clinvar/355282 ^@ NM_000426.3(LAMA2):c.5665A>G (p.Lys1889Glu) http://identifiers.org/clinvar/355532 ^@ NM_000288.3(PEX7):c.615C>T (p.Asp205=) http://identifiers.org/clinvar/359960 ^@ NM_005522.4(HOXA1):c.549C>A (p.Leu183=) http://identifiers.org/clinvar/355382 ^@ NM_006208.2(ENPP1):c.*1221A>G http://identifiers.org/clinvar/361060 ^@ NM_017890.4(VPS13B):c.3865A>G (p.Thr1289Ala) http://identifiers.org/clinvar/361110 ^@ NM_017890.4(VPS13B):c.*705T>C http://identifiers.org/clinvar/355732 ^@ NM_203395.2(IYD):c.*2203G>A http://identifiers.org/clinvar/355582 ^@ NM_003630.2(PEX3):c.*319A>T http://identifiers.org/clinvar/360410 ^@ NM_014855.2(AP5Z1):c.*2599T>C http://identifiers.org/clinvar/355932 ^@ NM_033071.3(SYNE1):c.3403G>C (p.Asp1135His) http://identifiers.org/clinvar/355982 ^@ NM_004562.2(PRKN):c.*2475A>C http://identifiers.org/clinvar/360560 ^@ NM_000181.3(GUSB):c.-20C>T http://identifiers.org/clinvar/355832 ^@ NM_033071.3(SYNE1):c.21309G>C (p.Gln7103His) http://identifiers.org/clinvar/356182 ^@ NM_001080.3(ALDH5A1):c.*2449A>G http://identifiers.org/clinvar/356282 ^@ NM_001710.5(CFB):c.1037-10C>G http://identifiers.org/clinvar/360910 ^@ NM_000466.2(PEX1):c.*241T>C http://identifiers.org/clinvar/361010 ^@ NM_014251.2(SLC25A13):c.1945G>C (p.Gly649Arg) http://identifiers.org/clinvar/356332 ^@ NM_006929.4(SKIV2L):c.2060C>A (p.Ser687Tyr) http://identifiers.org/clinvar/356382 ^@ NM_080680.2(COL11A2):c.4872C>T (p.Tyr1624=) http://identifiers.org/clinvar/361210 ^@ NM_178857.5(RP1L1):c.6816C>T (p.Val2272=) http://identifiers.org/clinvar/361360 ^@ NM_178857.5(RP1L1):c.2049C>T (p.Thr683=) http://identifiers.org/clinvar/356782 ^@ NM_000322.4(PRPH2):c.-60C>T http://identifiers.org/clinvar/356832 ^@ NM_014780.4(CUL7):c.3027C>T (p.His1009=) http://identifiers.org/clinvar/311199 ^@ NM_001846.3(COL4A2):c.*25T>C http://identifiers.org/clinvar/311299 ^@ NM_021954.3(GJA3):c.*2416A>G http://identifiers.org/clinvar/311699 ^@ NM_004795.3(KL):c.1780C>T (p.Arg594Cys) http://identifiers.org/clinvar/303840 ^@ NM_001909.4(CTSD):c.111G>C (p.Ser37=) http://identifiers.org/clinvar/298512 ^@ NM_021830.4(TWNK):c.*476_*477delGA http://identifiers.org/clinvar/367488 ^@ NM_004560.3(ROR2):c.*520C>T http://identifiers.org/clinvar/312438 ^@ NM_006493.2(CLN5):c.*954T>C http://identifiers.org/clinvar/304290 ^@ NM_000280.4(PAX6):c.*4919_*4921delATTinsCACAGATTAAAAGAAATG http://identifiers.org/clinvar/312888 ^@ NM_000257.3(MYH7):c.*105T>C http://identifiers.org/clinvar/298612 ^@ NM_016169.3(SUFU):c.*3239_*3241delCGT http://identifiers.org/clinvar/299012 ^@ NM_000141.4(FGFR2):c.-74G>A http://identifiers.org/clinvar/313138 ^@ NM_001079668.2(NKX2-1):c.1200C>T (p.Thr400=) http://identifiers.org/clinvar/313188 ^@ NM_020937.3(FANCM):c.171G>C (p.Leu57Phe) http://identifiers.org/clinvar/299112 ^@ NM_001609.3(ACADSB):c.*1445A>T http://identifiers.org/clinvar/313288 ^@ NM_018139.2(DNAAF2):c.332G>C (p.Arg111Pro) http://identifiers.org/clinvar/299412 ^@ NM_001081.3(CUBN):c.8062+5G>A http://identifiers.org/clinvar/313738 ^@ NM_000347.5(SPTB):c.3479G>A (p.Arg1160His) http://identifiers.org/clinvar/299212 ^@ NM_021980.4(OPTN):c.441G>A (p.Val147=) http://identifiers.org/clinvar/299362 ^@ NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) http://identifiers.org/clinvar/299512 ^@ NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) http://identifiers.org/clinvar/299562 ^@ NM_201590.2(CACNB2):c.1330T>G (p.Ser444Ala) http://identifiers.org/clinvar/300212 ^@ NM_000417.2(IL2RA):c.*2055T>C http://identifiers.org/clinvar/299812 ^@ NM_021252.4(RAB18):c.-41A>G http://identifiers.org/clinvar/315427 ^@ NM_144599.4(NIPA1):c.-19G>A http://identifiers.org/clinvar/306165 ^@ NM_000260.3(MYO7A):c.1242C>T (p.Ile414=) http://identifiers.org/clinvar/315377 ^@ NM_144599.4(NIPA1):c.*2469A>G http://identifiers.org/clinvar/300062 ^@ NM_000124.3(ERCC6):c.2645A>G (p.Tyr882Cys) http://identifiers.org/clinvar/300112 ^@ NM_000242.2(MBL2):c.*2066G>T http://identifiers.org/clinvar/306566 ^@ NM_030962.3(SBF2):c.*375G>C http://identifiers.org/clinvar/311099 ^@ NM_001846.3(COL4A2):c.361-5C>T http://identifiers.org/clinvar/315177 ^@ NM_139057.3(ADAMTS17):c.*1741A>T http://identifiers.org/clinvar/315227 ^@ NM_139057.3(ADAMTS17):c.*465G>A http://identifiers.org/clinvar/311349 ^@ NM_021954.3(GJA3):c.84G>A (p.Val28=) http://identifiers.org/clinvar/311449 ^@ NM_002010.2(FGF9):c.*713T>C http://identifiers.org/clinvar/311549 ^@ NM_014363.5(SACS):c.3545C>T (p.Ala1182Val) http://identifiers.org/clinvar/310394 ^@ NM_173353.3(TPH2):c.*325delC http://identifiers.org/clinvar/310649 ^@ NM_001920.4(DCN):c.*105G>A http://identifiers.org/clinvar/310699 ^@ NM_002108.3(HAL):c.*191C>T http://identifiers.org/clinvar/337936 ^@ NM_198994.2(TGM6):c.1690C>T (p.Pro564Ser) http://identifiers.org/clinvar/310899 ^@ NM_004115.3(FGF14):c.481T>C (p.Leu161=) http://identifiers.org/clinvar/312488 ^@ NM_052910.2(SLITRK1):c.*801A>C http://identifiers.org/clinvar/319379 ^@ NM_000293.2(PHKB):c.*982delC http://identifiers.org/clinvar/310999 ^@ NM_002312.3(LIG4):c.-132A>G http://identifiers.org/clinvar/338036 ^@ NM_032609.2(COX4I2):c.396G>A (p.Pro132=) http://identifiers.org/clinvar/338086 ^@ NM_015338.5(ASXL1):c.1336G>A (p.Val446Ile) http://identifiers.org/clinvar/311149 ^@ NM_001846.3(COL4A2):c.2484T>C (p.Pro828=) http://identifiers.org/clinvar/312838 ^@ NM_001126106.2(SLC7A7):c.-281T>C http://identifiers.org/clinvar/311399 ^@ NM_006783.4(GJB6):c.-433G>A http://identifiers.org/clinvar/311499 ^@ NM_014363.5(SACS):c.13031A>G (p.Asn4344Ser) http://identifiers.org/clinvar/312988 ^@ NM_000359.2(TGM1):c.366G>A (p.Ser122=) http://identifiers.org/clinvar/311599 ^@ NM_018451.4(CENPJ):c.*308_*310delAAG http://identifiers.org/clinvar/313038 ^@ NM_025152.2(NUBPL):c.*357C>G http://identifiers.org/clinvar/339026 ^@ NM_004738.4(VAPB):c.*6687_*6689delATG http://identifiers.org/clinvar/339076 ^@ NM_001001433.2(STX16):c.*1581G>C http://identifiers.org/clinvar/313338 ^@ NM_001202.5(BMP4):c.*148_*149delAG http://identifiers.org/clinvar/339126 ^@ NM_207034.2(EDN3):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/339226 ^@ NM_017671.4(FERMT1):c.722T>C (p.Val241Ala) http://identifiers.org/clinvar/313488 ^@ NM_182914.2(SYNE2):c.1482G>A (p.Leu494=) http://identifiers.org/clinvar/339326 ^@ NM_172107.3(KCNQ2):c.*248C>T http://identifiers.org/clinvar/313538 ^@ NM_182914.2(SYNE2):c.8761A>C (p.Lys2921Gln) http://identifiers.org/clinvar/339476 ^@ NM_012469.3(PRPF6):c.1524+10A>G http://identifiers.org/clinvar/339676 ^@ NM_178817.3(MRAP):c.106+15G>C http://identifiers.org/clinvar/321269 ^@ NM_000303.2(PMM2):c.*1297C>T http://identifiers.org/clinvar/339826 ^@ NM_001754.4(RUNX1):c.*2594_*2597delTATT http://identifiers.org/clinvar/312388 ^@ NM_000053.3(ATP7B):c.2469G>C (p.Glu823Asp) http://identifiers.org/clinvar/321673 ^@ NM_017534.5(MYH2):c.3567A>G (p.Leu1189=) http://identifiers.org/clinvar/340276 ^@ NM_130445.3(COL18A1):c.*71G>A http://identifiers.org/clinvar/321823 ^@ NM_001303.3(COX10):c.*322T>C http://identifiers.org/clinvar/368677 ^@ NM_153252.4(BRWD3):c.*6957C>G http://identifiers.org/clinvar/337886 ^@ NM_000361.2(THBD):c.1083G>A (p.Glu361=) http://identifiers.org/clinvar/338136 ^@ NM_015338.5(ASXL1):c.*1185C>T http://identifiers.org/clinvar/338286 ^@ NM_000687.3(AHCY):c.-124C>A http://identifiers.org/clinvar/339176 ^@ NM_017671.4(FERMT1):c.*2058C>T http://identifiers.org/clinvar/339376 ^@ NM_025219.2(DNAJC5):c.*853C>T http://identifiers.org/clinvar/339726 ^@ NM_000219.5(KCNE1):c.*2320G>T http://identifiers.org/clinvar/339776 ^@ NM_000219.5(KCNE1):c.-100T>C http://identifiers.org/clinvar/339876 ^@ NM_001754.4(RUNX1):c.613+8C>T http://identifiers.org/clinvar/337836 ^@ NM_024411.4(PDYN):c.520C>T (p.Arg174Cys) http://identifiers.org/clinvar/340026 ^@ NM_020639.2(RIPK4):c.936+6G>A http://identifiers.org/clinvar/340076 ^@ NM_000071.2(CBS):c.*299G>A http://identifiers.org/clinvar/338186 ^@ NM_006892.3(DNMT3B):c.*70G>A http://identifiers.org/clinvar/339426 ^@ NM_025219.2(DNAJC5):c.*3375C>T http://identifiers.org/clinvar/380944 ^@ NM_012470.3(TNPO3):c.2154G>T (p.Arg718=) http://identifiers.org/clinvar/383287 ^@ NM_014000.2(VCL):c.168+20C>A http://identifiers.org/clinvar/386078 ^@ NM_001698.2(AUH):c.135G>A (p.Ala45=) http://identifiers.org/clinvar/384739 ^@ NM_000051.3(ATM):c.1257A>G (p.Leu419=) http://identifiers.org/clinvar/386128 ^@ NM_016203.3(PRKAG2):c.591C>G (p.Pro197=) http://identifiers.org/clinvar/389717 ^@ NM_000051.3(ATM):c.7035A>G (p.Leu2345=) http://identifiers.org/clinvar/381244 ^@ NM_000051.3(ATM):c.8118T>C (p.Gly2706=) http://identifiers.org/clinvar/384438 ^@ NM_003156.3(STIM1):c.386-11T>C http://identifiers.org/clinvar/387128 ^@ NM_003054.4(SLC18A2):c.1071-4G>A http://identifiers.org/clinvar/389317 ^@ NM_005097.3(LGI1):c.132C>T (p.Ala44=) http://identifiers.org/clinvar/386728 ^@ NM_020975.4(RET):c.2358T>C (p.His786=) http://identifiers.org/clinvar/384288 ^@ NM_000051.3(ATM):c.2638+11A>G http://identifiers.org/clinvar/389167 ^@ NM_006231.3(POLE):c.6657+8G>A http://identifiers.org/clinvar/385289 ^@ NM_006231.3(POLE):c.6021G>T (p.Val2007=) http://identifiers.org/clinvar/391806 ^@ NM_001080463.1(DYNC2H1):c.10904C>T (p.Thr3635Ile) http://identifiers.org/clinvar/388767 ^@ NM_000051.3(ATM):c.8466T>C (p.Asp2822=) http://identifiers.org/clinvar/383387 ^@ NM_000051.3(ATM):c.1071T>C (p.Phe357=) http://identifiers.org/clinvar/392156 ^@ NM_138361.5(LRSAM1):c.1589G>A (p.Arg530Gln) http://identifiers.org/clinvar/380392 ^@ NM_005343.3(HRAS):c.54G>A (p.Ala18=) http://identifiers.org/clinvar/383237 ^@ NM_000391.3(TPP1):c.18-10G>T http://identifiers.org/clinvar/388967 ^@ NM_003282.3(TNNI2):c.-23+14C>T http://identifiers.org/clinvar/390906 ^@ NM_018389.4(SLC35C1):c.1047G>A (p.Pro349=) http://identifiers.org/clinvar/387078 ^@ NM_002496.3(NDUFS8):c.200-8G>T http://identifiers.org/clinvar/380642 ^@ NM_006231.3(POLE):c.6330+18C>T http://identifiers.org/clinvar/385039 ^@ NM_052845.3(MMAB):c.348+19C>T http://identifiers.org/clinvar/383437 ^@ NM_007327.3(GRIN1):c.-35C>A http://identifiers.org/clinvar/389467 ^@ NM_001376.4(DYNC1H1):c.5283C>T (p.Asn1761=) http://identifiers.org/clinvar/389117 ^@ NM_001376.4(DYNC1H1):c.8177+12C>G http://identifiers.org/clinvar/386228 ^@ NM_001376.4(DYNC1H1):c.11596-20G>A http://identifiers.org/clinvar/386928 ^@ NM_002408.3(MGAT2):c.120G>T (p.Pro40=) http://identifiers.org/clinvar/389017 ^@ NM_005050.3(ABCD4):c.1042C>T (p.Arg348Trp) http://identifiers.org/clinvar/386428 ^@ NM_012062.4(DNM1L):c.138G>A (p.Val46=) http://identifiers.org/clinvar/384188 ^@ NM_000059.3(BRCA2):c.3531C>T (p.Asp1177=) http://identifiers.org/clinvar/383036 ^@ NM_000053.3(ATP7B):c.1215C>T (p.Pro405=) http://identifiers.org/clinvar/377581 ^@ NM_000059.3(BRCA2):c.4530C>T (p.Pro1510=) http://identifiers.org/clinvar/389517 ^@ NM_000051.3(ATM):c.4436+20C>G http://identifiers.org/clinvar/380692 ^@ NM_004863.3(SPTLC2):c.-30G>C http://identifiers.org/clinvar/382886 ^@ NM_001376.4(DYNC1H1):c.13515+9G>A http://identifiers.org/clinvar/389817 ^@ NM_003476.4(CSRP3):c.-117-109G>A http://identifiers.org/clinvar/392056 ^@ NM_001170629.1(CHD8):c.2487-2A>G http://identifiers.org/clinvar/386628 ^@ NM_004360.4(CDH1):c.687+11C>T http://identifiers.org/clinvar/391006 ^@ NM_004360.4(CDH1):c.2316G>T (p.Leu772=) http://identifiers.org/clinvar/380743 ^@ NM_005475.2(SH2B3):c.494C>G (p.Thr165Ser) http://identifiers.org/clinvar/389367 ^@ NM_002435.2(MPI):c.671-4T>G http://identifiers.org/clinvar/47994 ^@ NM_005709.3(USH1C):c.1294A>G (p.Lys432Glu) http://identifiers.org/clinvar/48095 ^@ NM_170707.3(LMNA):c.958delC (p.Leu320Phefs) http://identifiers.org/clinvar/48145 ^@ NM_001195794.1(CLRN1):c.301_305delGTCAT (p.Val101Serfs) http://identifiers.org/clinvar/48195 ^@ NM_194248.2(OTOF):c.237G>A (p.Gly79=) http://identifiers.org/clinvar/48245 ^@ NM_194248.2(OTOF):c.4995G>C (p.Leu1665=) http://identifiers.org/clinvar/48295 ^@ NM_198056.2(SCN5A):c.2770G>A (p.Val924Ile) http://identifiers.org/clinvar/48346 ^@ NM_206933.2(USH2A):c.10470G>T (p.Val3490=) http://identifiers.org/clinvar/48396 ^@ NM_206933.2(USH2A):c.12332C>T (p.Ser4111Phe) http://identifiers.org/clinvar/48446 ^@ NM_206933.2(USH2A):c.14817G>A (p.Ser4939=) http://identifiers.org/clinvar/48497 ^@ NM_206933.2(USH2A):c.3158-6A>G http://identifiers.org/clinvar/53 ^@ NM_152269.4(C12orf65):c.248delT (p.Val83Glyfs) http://identifiers.org/clinvar/169 ^@ NM_000274.3(OAT):c.749G>C (p.Arg250Pro) http://identifiers.org/clinvar/498 ^@ NM_173560.3(RFX6):c.672+2T>G http://identifiers.org/clinvar/507 ^@ NM_000037.3(ANK1):c.-108T>C http://identifiers.org/clinvar/544 ^@ NM_001145308.4(LRTOMT):c.313T>C (p.Trp105Arg) http://identifiers.org/clinvar/576 ^@ NM_000277.1(PAH):c.1315+1G>A http://identifiers.org/clinvar/626 ^@ NM_000277.1(PAH):c.1076C>G (p.Ser359Ter) http://identifiers.org/clinvar/689 ^@ FUCA1, 1-BP DEL, EX5 http://identifiers.org/clinvar/721 ^@ NM_001109809.2(ZFP57):c.898_905delACCCAGGC (p.Thr300Terfs) http://identifiers.org/clinvar/1095 ^@ NM_000642.2(AGL):c.16C>T (p.Gln6Ter) http://identifiers.org/clinvar/1104 ^@ NM_000642.2(AGL):c.1999delC (p.Gln667Argfs) http://identifiers.org/clinvar/1113 ^@ NM_025137.3(SPG11):c.2472_2473insT (p.Lys825Terfs) http://identifiers.org/clinvar/1182 ^@ CYP11B1, CYP11B1/CYP11B2 CHIMERA http://identifiers.org/clinvar/1227 ^@ NM_032985.4(SEC23B):c.649C>T (p.Arg217Ter) http://identifiers.org/clinvar/1278 ^@ NM_173660.4(DOK7):c.539G>C (p.Gly180Ala) http://identifiers.org/clinvar/1322 ^@ SLC4A11, 2-BP DEL, 99TC http://identifiers.org/clinvar/1368 ^@ NM_153704.5(TMEM67):c.2315_2322+5del13insGG http://identifiers.org/clinvar/1413 ^@ NM_001041.3(SI):c.1022T>C (p.Leu341Pro) http://identifiers.org/clinvar/1644 ^@ NM_000382.2(ALDH3A2):c.1157A>G (p.Asn386Ser) http://identifiers.org/clinvar/1735 ^@ NM_001017420.2(ESCO2):c.1615T>G (p.Trp539Gly) http://identifiers.org/clinvar/1786 ^@ CYP17A1, IVS7+5G-A http://identifiers.org/clinvar/1830 ^@ NM_001023570.3(IQCB1):c.1381C>T (p.Arg461Ter) http://identifiers.org/clinvar/2595 ^@ NM_000126.3(ETFA):c.346G>A (p.Gly116Arg) http://identifiers.org/clinvar/2640 ^@ NM_153240.4(NPHP3):c.2104C>T (p.Arg702Ter) http://identifiers.org/clinvar/2686 ^@ NM_001029835.2(CCM2):c.656T>G (p.Leu219Arg) http://identifiers.org/clinvar/2732 ^@ NM_004183.3(BEST1):c.16A>C (p.Thr6Pro) http://identifiers.org/clinvar/2778 ^@ NM_000158.3(GBE1):c.671T>C (p.Leu224Pro) http://identifiers.org/clinvar/2822 ^@ NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) http://identifiers.org/clinvar/2868 ^@ MCFD2, 1-BP DEL, 249T http://identifiers.org/clinvar/2913 ^@ SBF2, IVS32DS, G-C, +1 http://identifiers.org/clinvar/2959 ^@ NM_000271.4(NPC1):c.3467A>G (p.Asn1156Ser) http://identifiers.org/clinvar/3003 ^@ NM_000226.3(KRT9):c.482A>G (p.Asn161Ser) http://identifiers.org/clinvar/3052 ^@ NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) http://identifiers.org/clinvar/3099 ^@ NM_005670.3(EPM2A):c.835G>A (p.Gly279Ser) http://identifiers.org/clinvar/3152 ^@ NM_181507.1(HPS5):c.2025_2028delAGTT (p.Val676Metfs) http://identifiers.org/clinvar/3199 ^@ NM_006731.2(FKTN):c.*4392_*4393insAB185332.1 http://identifiers.org/clinvar/3245 ^@ NM_007171.3(POMT1):c.1540C>T (p.Arg514Ter) http://identifiers.org/clinvar/3292 ^@ NM_000268.3(NF2):c.1021C>T (p.Arg341Ter) http://identifiers.org/clinvar/3337 ^@ NM_000348.3(SRD5A2):c.736C>T (p.Arg246Trp) http://identifiers.org/clinvar/10497 ^@ NM_000202.7(IDS):c.1402C>T (p.Arg468Trp) http://identifiers.org/clinvar/10542 ^@ NM_171998.3(RAB39B):c.215+1G>A http://identifiers.org/clinvar/10588 ^@ NM_000133.3(F9):c.580A>G (p.Thr194Ala) http://identifiers.org/clinvar/10632 ^@ F9, EX1-3DEL http://identifiers.org/clinvar/10679 ^@ NM_000266.3(NDP):c.269G>C (p.Arg90Pro) http://identifiers.org/clinvar/10859 ^@ NM_000276.3(OCRL):c.1572C>G (p.His524Gln) http://identifiers.org/clinvar/10904 ^@ NM_002351.4(SH2D1A):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/10996 ^@ NM_000531.5(OTC):c.717+2T>C http://identifiers.org/clinvar/11085 ^@ NM_001128834.2(PLP1):c.560T>C (p.Ile187Thr) http://identifiers.org/clinvar/11176 ^@ NM_000117.2(EMD):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/11220 ^@ NM_004006.2(DMD):c.6955C>T (p.Gln2319Ter) http://identifiers.org/clinvar/11266 ^@ NM_004006.2(DMD):c.7402G>T (p.Glu2468Ter) http://identifiers.org/clinvar/11310 ^@ NM_000033.3(ABCD1):c.1817C>T (p.Ser606Leu) http://identifiers.org/clinvar/11357 ^@ NM_000061.2(BTK):c.389delA (p.Asn130Thrfs) http://identifiers.org/clinvar/11401 ^@ NM_080632.2(UPF3B):c.478T>G (p.Tyr160Asp) http://identifiers.org/clinvar/11515 ^@ NM_001011658.3(TRAPPC2):c.329C>A (p.Ser110Ter) http://identifiers.org/clinvar/11565 ^@ ACSL4, IVS10, A-G, -2 http://identifiers.org/clinvar/11615 ^@ NM_005183.3(CACNA1F):c.2905C>T (p.Arg969Ter) http://identifiers.org/clinvar/11665 ^@ RPS6KA3, IVS3, L1 INS, -8 http://identifiers.org/clinvar/11716 ^@ NM_000686.4(AGTR2):c.62G>T (p.Gly21Val) http://identifiers.org/clinvar/11767 ^@ NM_001110556.1(FLNA):c.383C>T (p.Ala128Val) http://identifiers.org/clinvar/11818 ^@ NM_004992.3(MECP2):c.167_168delCC (p.Pro56Argfs) http://identifiers.org/clinvar/11868 ^@ NM_000137.2(FAH):c.1021C>T (p.Arg341Trp) http://identifiers.org/clinvar/11918 ^@ NM_000203.4(IDUA):c.1475G>C (p.Arg492Pro) http://identifiers.org/clinvar/11968 ^@ NM_000108.4(DLD):c.1483A>G (p.Arg495Gly) http://identifiers.org/clinvar/12020 ^@ PCCA, 4-BP DEL, 1824IVS, +3 http://identifiers.org/clinvar/12070 ^@ F7, ARG247HIS http://identifiers.org/clinvar/12120 ^@ CFI, 2-BP INS, 1205AT http://identifiers.org/clinvar/12173 ^@ NM_000500.7(CYP21A2):c.713T>A (p.Val238Glu) http://identifiers.org/clinvar/12225 ^@ NM_001692.3(ATP6V1B1):c.91C>T (p.Arg31Ter) http://identifiers.org/clinvar/12276 ^@ NM_000463.2(UGT1A1):c.474_475insT (p.Ile159Tyrfs) http://identifiers.org/clinvar/12328 ^@ NM_199292.2(TH):c.1010G>A (p.Arg337His) http://identifiers.org/clinvar/12379 ^@ NM_000546.5(TP53):c.1010G>A (p.Arg337His) http://identifiers.org/clinvar/12430 ^@ NM_000363.4(TNNI3):c.106A>C (p.Lys36Gln) http://identifiers.org/clinvar/12481 ^@ NM_000359.2(TGM1):c.428G>A (p.Arg143His) http://identifiers.org/clinvar/12531 ^@ NM_000660.6(TGFB1):c.652C>T (p.Arg218Cys) http://identifiers.org/clinvar/12581 ^@ NM_033360.3(KRAS):c.175G>A (p.Ala59Thr) http://identifiers.org/clinvar/12632 ^@ ZEB1, 1350C-T http://identifiers.org/clinvar/12682 ^@ NM_003301.5(TRHR):c.49C>T (p.Arg17Ter) http://identifiers.org/clinvar/12734 ^@ TERT, -1327T-C http://identifiers.org/clinvar/12784 ^@ SDHB, 1.0-KB DEL, EX1 http://identifiers.org/clinvar/36672 ^@ NM_174936.3(PCSK9):c.658-7C>T http://identifiers.org/clinvar/36725 ^@ NM_020630.4(RET):c.1880-2A>G http://identifiers.org/clinvar/36777 ^@ NM_003098.2(SNTA1):c.311-6G>C http://identifiers.org/clinvar/36827 ^@ NM_000545.6(HNF1A):c.713+14C>T http://identifiers.org/clinvar/37318 ^@ NM_005340.6(HINT1):c.278G>A (p.Gly93Asp) http://identifiers.org/clinvar/37402 ^@ NM_007294.3(BRCA1):c.134A>C (p.Lys45Thr) http://identifiers.org/clinvar/37454 ^@ NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) http://identifiers.org/clinvar/37509 ^@ NM_007294.3(BRCA1):c.3112G>T (p.Glu1038Ter) http://identifiers.org/clinvar/38407 ^@ NM_018713.2(SLC30A10):c.292_402del111 (p.Val98_Phe134del) http://identifiers.org/clinvar/38494 ^@ NM_000492.3(CFTR):c.579+1G>T http://identifiers.org/clinvar/38730 ^@ NM_000492.3(CFTR):c.178G>T (p.Glu60Ter) http://identifiers.org/clinvar/38785 ^@ NM_000495.4(COL4A5):c.4439C>G (p.Thr1480Arg) http://identifiers.org/clinvar/38909 ^@ NM_001039958.1(MESP2):c.385A>T (p.Ile129Phe) http://identifiers.org/clinvar/38959 ^@ NM_001363.4(DKC1):c.965G>A (p.Arg322Gln) http://identifiers.org/clinvar/39011 ^@ NM_016938.4(EFEMP2):c.376G>A (p.Glu126Lys) http://identifiers.org/clinvar/39061 ^@ NM_024312.4(GNPTAB):c.2866C>T (p.His956Tyr) http://identifiers.org/clinvar/39118 ^@ NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) http://identifiers.org/clinvar/39168 ^@ NM_198578.3(LRRK2):c.3574A>G (p.Ile1192Val) http://identifiers.org/clinvar/39218 ^@ NM_198578.3(LRRK2):c.6035T>C (p.Ile2012Thr) http://identifiers.org/clinvar/39269 ^@ NM_207352.3(CYP4V2):c.759dupA (p.His254Thrfs) http://identifiers.org/clinvar/39430 ^@ NM_001558.3(IL10RA):c.784C>T (p.Arg262Cys) http://identifiers.org/clinvar/39482 ^@ NM_005327.4(HADH):c.706C>T (p.Arg236Ter) http://identifiers.org/clinvar/39533 ^@ NM_000359.2(TGM1):c.1187G>A (p.Arg396His) http://identifiers.org/clinvar/39583 ^@ NM_000146.3(FTL):c.89C>T (p.Thr30Ile) http://identifiers.org/clinvar/39635 ^@ NM_017570.4(OPLAH):c.969C>A (p.Ser323Arg) http://identifiers.org/clinvar/39687 ^@ NM_006383.3(CIB2):c.368T>C (p.Ile123Thr) http://identifiers.org/clinvar/39737 ^@ AAGAB, IVS, G-A, +1 http://identifiers.org/clinvar/39788 ^@ NM_001083614.1(EARS2):c.502A>G (p.Arg168Gly) http://identifiers.org/clinvar/39839 ^@ NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) http://identifiers.org/clinvar/39982 ^@ NM_020964.2(EPG5):c.3481C>T (p.Arg1161Ter) http://identifiers.org/clinvar/242677 ^@ NM_005458.7(GABBR2):c.460-23G= http://identifiers.org/clinvar/40114 ^@ NC_000004.11:g.88957372-?_89042944+?dup http://identifiers.org/clinvar/40246 ^@ POLG2, 24-BP INS, NT1207 http://identifiers.org/clinvar/40375 ^@ NM_004333.4(BRAF):c.1513C>T (p.Leu505Phe) http://identifiers.org/clinvar/40442 ^@ NM_005343.3(HRAS):c.378A>G (p.Glu126=) http://identifiers.org/clinvar/51174 ^@ NM_000059.3(BRCA2):c.1681G>T (p.Gly561Ter) http://identifiers.org/clinvar/51226 ^@ NM_000059.3(BRCA2):c.1911T>G (p.Gly637=) http://identifiers.org/clinvar/51277 ^@ NM_000059.3(BRCA2):c.240A>G (p.Ile80Met) http://identifiers.org/clinvar/51328 ^@ NM_000059.3(BRCA2):c.2698A>G (p.Asn900Asp) http://identifiers.org/clinvar/51378 ^@ NM_000059.3(BRCA2):c.2957dupA (p.Asn986Lysfs) http://identifiers.org/clinvar/51428 ^@ NM_000059.3(BRCA2):c.322A>C (p.Asn108His) http://identifiers.org/clinvar/52141 ^@ NM_000059.3(BRCA2):c.6635_6636delGT (p.Cys2212Phefs) http://identifiers.org/clinvar/52192 ^@ NM_000059.3(BRCA2):c.6809delG (p.Gly2270Glufs) http://identifiers.org/clinvar/52243 ^@ NM_000059.3(BRCA2):c.7008-13C>T http://identifiers.org/clinvar/52294 ^@ NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) http://identifiers.org/clinvar/52344 ^@ NM_000059.3(BRCA2):c.7491_7493delGAA (p.Lys2498del) http://identifiers.org/clinvar/52395 ^@ NM_000059.3(BRCA2):c.772C>T (p.Gln258Ter) http://identifiers.org/clinvar/52445 ^@ NM_000059.3(BRCA2):c.7947A>G (p.Pro2649=) http://identifiers.org/clinvar/52495 ^@ NM_000059.3(BRCA2):c.8068_8069delGT (p.Val2690Phefs) http://identifiers.org/clinvar/52596 ^@ NM_000059.3(BRCA2):c.8463dupT (p.Ile2822Tyrfs) http://identifiers.org/clinvar/52647 ^@ NM_000059.3(BRCA2):c.8642_8643insTT (p.Lys2882Terfs) http://identifiers.org/clinvar/52698 ^@ NM_000059.3(BRCA2):c.8912delA (p.Lys2971Serfs) http://identifiers.org/clinvar/52749 ^@ NM_000059.3(BRCA2):c.9100C>T (p.Gln3034Ter) http://identifiers.org/clinvar/52800 ^@ NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) http://identifiers.org/clinvar/52851 ^@ NM_000059.3(BRCA2):c.94T>C (p.Phe32Leu) http://identifiers.org/clinvar/52901 ^@ NM_000059.3(BRCA2):c.9806G>A (p.Arg3269Lys) http://identifiers.org/clinvar/52951 ^@ NM_000218.2(KCNQ1):c.1079G>C (p.Arg360Thr) http://identifiers.org/clinvar/53001 ^@ NM_000218.2(KCNQ1):c.1643G>A (p.Gly548Asp) http://identifiers.org/clinvar/53051 ^@ NM_000218.2(KCNQ1):c.500_502delTCG (p.Phe167_Gly168delinsTrp) http://identifiers.org/clinvar/53101 ^@ NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) http://identifiers.org/clinvar/53152 ^@ NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg) http://identifiers.org/clinvar/53205 ^@ NM_000492.3(CFTR):c.1162_1168delACGACTA (p.Thr388Glnfs) http://identifiers.org/clinvar/53257 ^@ NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) http://identifiers.org/clinvar/53308 ^@ NM_000492.3(CFTR):c.164+3_164+4insT http://identifiers.org/clinvar/53358 ^@ NM_000492.3(CFTR):c.1714G>A (p.Asp572Asn) http://identifiers.org/clinvar/53408 ^@ NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) http://identifiers.org/clinvar/53460 ^@ NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) http://identifiers.org/clinvar/53513 ^@ NM_000492.3(CFTR):c.2563G>A (p.Val855Ile) http://identifiers.org/clinvar/53819 ^@ NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) http://identifiers.org/clinvar/53871 ^@ NM_000492.3(CFTR):c.4003C>T (p.Leu1335Phe) http://identifiers.org/clinvar/53922 ^@ NM_000492.3(CFTR):c.420dupA (p.Ala141Serfs) http://identifiers.org/clinvar/53972 ^@ NM_000492.3(CFTR):c.489G>A (p.Lys163=) http://identifiers.org/clinvar/54022 ^@ NM_000492.3(CFTR):c.601G>A (p.Val201Met) http://identifiers.org/clinvar/54865 ^@ NM_007294.3(BRCA1):c.3397_3398delTT (p.Leu1133Argfs) http://identifiers.org/clinvar/54915 ^@ NM_007294.3(BRCA1):c.3549_3550delAGinsT (p.Lys1183Asnfs) http://identifiers.org/clinvar/54967 ^@ NM_007294.3(BRCA1):c.3704delA (p.Asn1235Thrfs) http://identifiers.org/clinvar/55018 ^@ NM_007294.3(BRCA1):c.3822_3823insT (p.Ile1275Tyrfs) http://identifiers.org/clinvar/55068 ^@ NM_007294.3(BRCA1):c.3981delG (p.Gln1327Hisfs) http://identifiers.org/clinvar/55119 ^@ NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn) http://identifiers.org/clinvar/55170 ^@ NM_007294.3(BRCA1):c.4331_4332delAT (p.Asn1444Thrfs) http://identifiers.org/clinvar/55221 ^@ NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) http://identifiers.org/clinvar/55271 ^@ NM_007294.3(BRCA1):c.4724delC (p.Pro1575Leufs) http://identifiers.org/clinvar/55322 ^@ NM_007294.3(BRCA1):c.4936delG (p.Val1646Serfs) http://identifiers.org/clinvar/55372 ^@ NM_007294.3(BRCA1):c.5071dupA (p.Thr1691Asnfs) http://identifiers.org/clinvar/55422 ^@ NM_007294.3(BRCA1):c.5150delT (p.Phe1717Serfs) http://identifiers.org/clinvar/55472 ^@ NM_007294.3(BRCA1):c.5236C>A (p.His1746Asn) http://identifiers.org/clinvar/55525 ^@ NM_007294.3(BRCA1):c.5323_5324delAT (p.Met1775Alafs) http://identifiers.org/clinvar/55575 ^@ NM_007294.3(BRCA1):c.5426T>C (p.Val1809Ala) http://identifiers.org/clinvar/55625 ^@ NM_007294.3(BRCA1):c.5553dupC (p.Thr1852Hisfs) http://identifiers.org/clinvar/55677 ^@ NM_007294.3(BRCA1):c.716A>G (p.His239Arg) http://identifiers.org/clinvar/55728 ^@ NM_007294.3(BRCA1):c.827_828insT (p.Asn277Lysfs) http://identifiers.org/clinvar/55790 ^@ NM_000059.3(BRCA2):c.1325C>A (p.Ser442Ter) http://identifiers.org/clinvar/55857 ^@ NM_015250.3(BICD2):c.320C>T (p.Ser107Leu) http://identifiers.org/clinvar/55934 ^@ NM_182710.2(KAT5):c.638T>G (p.Val213Gly) http://identifiers.org/clinvar/55987 ^@ NM_000111.2(SLC26A3):c.1990delG (p.Val664Terfs) http://identifiers.org/clinvar/56040 ^@ NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) http://identifiers.org/clinvar/56091 ^@ NM_000170.2(GLDC):c.2896A>G (p.Arg966Gly) http://identifiers.org/clinvar/56145 ^@ NM_000243.2(MEFV):c.1910A>G (p.Asp637Gly) http://identifiers.org/clinvar/56196 ^@ NM_000310.3(PPT1):c.456C>A (p.Cys152Ter) http://identifiers.org/clinvar/101168 ^@ NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg) http://identifiers.org/clinvar/101218 ^@ NM_000090.3(COL3A1):c.665G>T (p.Gly222Val) http://identifiers.org/clinvar/101268 ^@ NM_000090.3(COL3A1):c.690+2T>A (p.Gly213_Asp230del) http://identifiers.org/clinvar/101318 ^@ NP_000081.1:p.Gly984Thr http://identifiers.org/clinvar/101368 ^@ NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del) http://identifiers.org/clinvar/103296 ^@ NM_153447.4(NLRP5):c.62+1G>A http://identifiers.org/clinvar/125661 ^@ NM_007294.3(BRCA1):c.4050_4051insG (p.Leu1351Valfs) http://identifiers.org/clinvar/125723 ^@ NM_007294.3(BRCA1):c.4676-10T>A http://identifiers.org/clinvar/125794 ^@ U14680.1:n.5312+13G>A http://identifiers.org/clinvar/125861 ^@ NM_007294.3(BRCA1):c.5490delA (p.Pro1831Leufs) http://identifiers.org/clinvar/125924 ^@ U43746.1:n.1021+65delT http://identifiers.org/clinvar/125988 ^@ NM_000059.3(BRCA2):c.2595delA (p.Glu866Lysfs) http://identifiers.org/clinvar/126051 ^@ NM_000059.3(BRCA2):c.4718_4719ins4 http://identifiers.org/clinvar/126125 ^@ NM_000059.3(BRCA2):c.7008-20_7008-17del4 http://identifiers.org/clinvar/126183 ^@ NM_000059.3(BRCA2):c.8578_8579delAA (p.Lys2860Glufs) http://identifiers.org/clinvar/126245 ^@ NM_001080522.2(CC2D2A):c.4407C>G (p.Ser1469Arg) http://identifiers.org/clinvar/126295 ^@ NM_024809.4(TCTN2):c.898C>T (p.Leu300=) http://identifiers.org/clinvar/126346 ^@ NM_003070.4(SMARCA2):c.3672G>A (p.Glu1224=) http://identifiers.org/clinvar/126402 ^@ NM_015474.3:c.(Exons1-13del) http://identifiers.org/clinvar/126470 ^@ NM_021625.4(TRPV4):c.1798G>T (p.Gly600Trp) http://identifiers.org/clinvar/126540 ^@ NM_000406.2(GNRHR):c.842C>T (p.Thr281Ile) http://identifiers.org/clinvar/126607 ^@ NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) http://identifiers.org/clinvar/126659 ^@ NM_024675.3(PALB2):c.2521delA (p.Thr841Glnfs) http://identifiers.org/clinvar/126709 ^@ NM_024675.3(PALB2):c.3056T>C (p.Val1019Ala) http://identifiers.org/clinvar/126760 ^@ NM_024675.3(PALB2):c.620C>G (p.Pro207Arg) http://identifiers.org/clinvar/126811 ^@ NM_000321.2(RB1):c.438_441delTGCT (p.Asn146Lysfs) http://identifiers.org/clinvar/126864 ^@ NM_199173.5(BGLAP):c.*304G>A http://identifiers.org/clinvar/126920 ^@ NM_001127464.2(ZNF469):c.2478G>T (p.Pro826=) http://identifiers.org/clinvar/126970 ^@ NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) http://identifiers.org/clinvar/127020 ^@ NM_005591.3(MRE11):c.*1746G>T http://identifiers.org/clinvar/127072 ^@ NM_001735.2(C5):c.2653C>T (p.Arg885Cys) http://identifiers.org/clinvar/127141 ^@ NM_052968.4(APOA5):c.*158C>T http://identifiers.org/clinvar/127241 ^@ NM_000059.3(BRCA2):c.9152delC (p.Pro3051Hisfs) http://identifiers.org/clinvar/160804 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 http://identifiers.org/clinvar/160855 ^@ GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 http://identifiers.org/clinvar/160907 ^@ GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3 http://identifiers.org/clinvar/160959 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 http://identifiers.org/clinvar/161010 ^@ GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1 http://identifiers.org/clinvar/161060 ^@ GRCh38/hg38 7q11.22(chr7:70891025-71072442)x3 http://identifiers.org/clinvar/161110 ^@ NM_005214.4(CTLA4):c.75delG (p.Leu28Phefs) http://identifiers.org/clinvar/161160 ^@ NM_001195610.1(DCDC2):c.1271A>C (p.Gln424Pro) http://identifiers.org/clinvar/161292 ^@ NM_001257374.2(LMNA):c.665G>A (p.Ser222Asn) http://identifiers.org/clinvar/161342 ^@ NM_000312.3(PROC):c.565C>T (p.Arg189Trp) http://identifiers.org/clinvar/161393 ^@ NM_004612.3(TGFBR1):c.1433A>G (p.Asn478Ser) http://identifiers.org/clinvar/161242 ^@ NM_000138.4(FBN1):c.2056G>A (p.Ala686Thr) http://identifiers.org/clinvar/161461 ^@ NM_000181.3(GUSB):c.1253T>G (p.Phe418Cys) http://identifiers.org/clinvar/161511 ^@ NM_001094.4(ASIC2):c.976C>A (p.His326Asn) http://identifiers.org/clinvar/162820 ^@ NM_001232.3(CASQ2):c.338G>A (p.Ser113Asn) http://identifiers.org/clinvar/178571 ^@ NM_206933.2(USH2A):c.14754G>A (p.Thr4918=) http://identifiers.org/clinvar/178121 ^@ NM_001035.2(RYR2):c.6320C>T (p.Thr2107Met) http://identifiers.org/clinvar/163878 ^@ NM_170707.3(LMNA):c.1634G>A (p.Arg545His) http://identifiers.org/clinvar/163754 ^@ NM_004700.3(KCNQ4):c.1325T>C (p.Met442Thr) http://identifiers.org/clinvar/242625 ^@ NM_133378.4(TTN):c.68689_68692delAACA (p.Asn22897Terfs) http://identifiers.org/clinvar/178171 ^@ NM_133378.4(TTN):c.84679G>A (p.Val28227Ile) http://identifiers.org/clinvar/178221 ^@ NM_133378.4(TTN):c.32164C>A (p.Pro10722Thr) http://identifiers.org/clinvar/178672 ^@ NM_133378.4(TTN):c.26752_26761delACGGCAGAGC (p.Thr8918Cysfs) http://identifiers.org/clinvar/178271 ^@ NM_133378.4(TTN):c.4261C>T (p.Arg1421Trp) http://identifiers.org/clinvar/179879 ^@ NM_194248.2(OTOF):c.322A>G (p.Ile108Val) http://identifiers.org/clinvar/178739 ^@ NM_001277115.1(DNAH11):c.13128C>A (p.Leu4376=) http://identifiers.org/clinvar/163130 ^@ NM_001277115.1(DNAH11):c.13502A>G (p.Lys4501Arg) http://identifiers.org/clinvar/162752 ^@ NM_003664.4(AP3B1):c.2016T>C (p.Ala672=) http://identifiers.org/clinvar/163588 ^@ NM_032119.3(ADGRV1):c.9447+6G>A http://identifiers.org/clinvar/198941 ^@ NM_000540.2(RYR1):c.11360-9T>A http://identifiers.org/clinvar/198992 ^@ NM_000096.3(CP):c.1632T= (p.Asp544=) http://identifiers.org/clinvar/199043 ^@ NM_000875.4(IGF1R):c.1963G>A (p.Gly655Ser) http://identifiers.org/clinvar/199096 ^@ NM_004560.3(ROR2):c.2395C>T (p.Pro799Ser) http://identifiers.org/clinvar/199148 ^@ NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) http://identifiers.org/clinvar/199199 ^@ NM_201253.2(CRB1):c.3317A>G (p.Tyr1106Cys) http://identifiers.org/clinvar/199254 ^@ NM_001098398.1(COPA):c.698G>A (p.Arg233His) http://identifiers.org/clinvar/217359 ^@ NM_003159.2(CDKL5):c.1591A>G (p.Thr531Ala) http://identifiers.org/clinvar/200948 ^@ NM_170707.3(LMNA):c.1880G>A (p.Arg627His) http://identifiers.org/clinvar/199703 ^@ NM_000090.3(COL3A1):c.3202-14delT http://identifiers.org/clinvar/199867 ^@ NM_004415.3(DSP):c.2297G>C (p.Ser766Thr) http://identifiers.org/clinvar/199925 ^@ NM_004415.3(DSP):c.6273delA (p.Ala2092Leufs) http://identifiers.org/clinvar/200497 ^@ NM_000238.3(KCNH2):c.2774G>T (p.Gly925Val) http://identifiers.org/clinvar/200743 ^@ NM_000238.3(KCNH2):c.1837A>T (p.Thr613Ser) http://identifiers.org/clinvar/200634 ^@ NM_000238.3(KCNH2):c.1319dupC (p.Pro441Alafs) http://identifiers.org/clinvar/200327 ^@ NM_000238.3(KCNH2):c.1193G>A (p.Trp398Ter) http://identifiers.org/clinvar/200833 ^@ NM_000218.2(KCNQ1):c.1011C>G (p.Ile337Met) http://identifiers.org/clinvar/200888 ^@ NM_000218.2(KCNQ1):c.1686delG (p.Arg562Serfs) http://identifiers.org/clinvar/200207 ^@ NM_000138.4(FBN1):c.8064delT (p.Gly2689Glufs) http://identifiers.org/clinvar/200091 ^@ NM_000138.4(FBN1):c.6697C>T (p.Pro2233Ser) http://identifiers.org/clinvar/200037 ^@ NM_000138.4(FBN1):c.4146T>A (p.Asn1382Lys) http://identifiers.org/clinvar/200152 ^@ NM_000138.4(FBN1):c.2262_2263delTG (p.Tyr754Terfs) http://identifiers.org/clinvar/199983 ^@ NM_000138.4(FBN1):c.1890C>A (p.Asn630Lys) http://identifiers.org/clinvar/201078 ^@ NM_002474.2(MYH11):c.4717A>G (p.Lys1573Glu) http://identifiers.org/clinvar/201024 ^@ NM_002474.2(MYH11):c.1732A>G (p.Ile578Val) http://identifiers.org/clinvar/199757 ^@ NM_024422.4(DSC2):c.2033C>T (p.Thr678Ile) http://identifiers.org/clinvar/199813 ^@ NM_001943.4(DSG2):c.1885C>T (p.Pro629Ser) http://identifiers.org/clinvar/202193 ^@ NM_004333.4(BRAF):c.1783T>C (p.Phe595Leu) http://identifiers.org/clinvar/203087 ^@ NM_001256850.1(TTN):c.100030A>G (p.Ser33344Gly) http://identifiers.org/clinvar/203037 ^@ NM_001256850.1(TTN):c.93363C>G (p.Ile31121Met) http://identifiers.org/clinvar/202987 ^@ NM_001256850.1(TTN):c.86960G>A (p.Arg28987Lys) http://identifiers.org/clinvar/202937 ^@ NM_001256850.1(TTN):c.82087G>A (p.Gly27363Ser) http://identifiers.org/clinvar/202887 ^@ NM_001256850.1(TTN):c.73400A>G (p.Gln24467Arg) http://identifiers.org/clinvar/202837 ^@ NM_001256850.1(TTN):c.67153G>A (p.Ala22385Thr) http://identifiers.org/clinvar/232315 ^@ NM_005732.3(RAD50):c.3590T>C (p.Met1197Thr) http://identifiers.org/clinvar/233455 ^@ NM_000535.6(PMS2):c.2049C>G (p.Asn683Lys) http://identifiers.org/clinvar/231665 ^@ NM_000535.6(PMS2):c.1926A>G (p.Glu642=) http://identifiers.org/clinvar/234058 ^@ NM_000535.6(PMS2):c.20C>G (p.Ser7Trp) http://identifiers.org/clinvar/233705 ^@ NM_002485.4(NBN):c.937G>T (p.Ala313Ser) http://identifiers.org/clinvar/232165 ^@ NM_002485.4(NBN):c.188delT (p.Ile63Thrfs) http://identifiers.org/clinvar/232065 ^@ NM_000051.3(ATM):c.787C>T (p.Leu263Phe) http://identifiers.org/clinvar/233757 ^@ NM_000051.3(ATM):c.1129T>C (p.Ser377Pro) http://identifiers.org/clinvar/233505 ^@ NM_000051.3(ATM):c.2143C>T (p.Leu715Phe) http://identifiers.org/clinvar/231315 ^@ NM_000051.3(ATM):c.2317A>C (p.Ile773Leu) http://identifiers.org/clinvar/231865 ^@ NM_000051.3(ATM):c.2878C>A (p.Pro960Thr) http://identifiers.org/clinvar/229676 ^@ NM_000051.3(ATM):c.4397G>A (p.Arg1466Gln) http://identifiers.org/clinvar/232365 ^@ NM_000051.3(ATM):c.6255T>A (p.Asp2085Glu) http://identifiers.org/clinvar/231615 ^@ NM_000051.3(ATM):c.6443A>G (p.Lys2148Arg) http://identifiers.org/clinvar/233958 ^@ NM_005591.3(MRE11):c.1622G>T (p.Ser541Ile) http://identifiers.org/clinvar/231415 ^@ NM_005591.3(MRE11):c.315-2A>G http://identifiers.org/clinvar/231715 ^@ NM_000059.3(BRCA2):c.451_452dupGT (p.Thr152Terfs) http://identifiers.org/clinvar/231265 ^@ NM_000059.3(BRCA2):c.2264C>G (p.Ser755Cys) http://identifiers.org/clinvar/233605 ^@ NM_000059.3(BRCA2):c.2929T>C (p.Leu977=) http://identifiers.org/clinvar/234008 ^@ NM_000059.3(BRCA2):c.3516G>T (p.Ser1172=) http://identifiers.org/clinvar/234108 ^@ NM_000059.3(BRCA2):c.5654G>T (p.Cys1885Phe) http://identifiers.org/clinvar/233858 ^@ NM_000059.3(BRCA2):c.5973T>G (p.Ala1991=) http://identifiers.org/clinvar/230765 ^@ NM_000059.3(BRCA2):c.8212G>A (p.Ala2738Thr) http://identifiers.org/clinvar/233655 ^@ NM_000059.3(BRCA2):c.9550C>G (p.Leu3184Val) http://identifiers.org/clinvar/233355 ^@ NM_024675.3(PALB2):c.2850C>T (p.Ser950=) http://identifiers.org/clinvar/232415 ^@ NM_024675.3(PALB2):c.1079A>G (p.Asp360Gly) http://identifiers.org/clinvar/233255 ^@ NM_001042492.2(NF1):c.2668C>A (p.Pro890Thr) http://identifiers.org/clinvar/231515 ^@ NM_001042492.2(NF1):c.3690G>T (p.Val1230=) http://identifiers.org/clinvar/233555 ^@ NM_001042492.2(NF1):c.5114G>A (p.Arg1705Lys) http://identifiers.org/clinvar/233807 ^@ NM_001042492.2(NF1):c.6162G>T (p.Met2054Ile) http://identifiers.org/clinvar/230815 ^@ NM_007294.3(BRCA1):c.4358-1G>A http://identifiers.org/clinvar/233305 ^@ NM_007294.3(BRCA1):c.1829G>A (p.Arg610Lys) http://identifiers.org/clinvar/231215 ^@ NM_007294.3(BRCA1):c.1662G>C (p.Glu554Asp) http://identifiers.org/clinvar/232515 ^@ NM_007294.3(BRCA1):c.309C>T (p.Asn103=) http://identifiers.org/clinvar/232015 ^@ NM_058216.2(RAD51C):c.395C>T (p.Thr132Ile) http://identifiers.org/clinvar/232115 ^@ NM_058216.2(RAD51C):c.840A>G (p.Val280=) http://identifiers.org/clinvar/234158 ^@ NM_032043.2(BRIP1):c.2287G>C (p.Gly763Arg) http://identifiers.org/clinvar/231815 ^@ NM_000546.5(TP53):c.976G>T (p.Glu326Ter) http://identifiers.org/clinvar/233908 ^@ NM_000546.5(TP53):c.902delC (p.Pro301Glnfs) http://identifiers.org/clinvar/232215 ^@ NM_007194.3(CHEK2):c.1391A>G (p.Lys464Arg) http://identifiers.org/clinvar/236544 ^@ NM_206933.2(USH2A):c.10612C>T (p.Arg3538Ter) http://identifiers.org/clinvar/236444 ^@ NM_001142564.1(CNGA1):c.1754T>G (p.Met585Arg) http://identifiers.org/clinvar/236494 ^@ NM_153676.3(USH1C):c.1210+5G>A http://identifiers.org/clinvar/237751 ^@ NM_000384.2(APOB):c.8148C>T (p.Ile2716=) http://identifiers.org/clinvar/237400 ^@ NM_000251.2(MSH2):c.646-8delC http://identifiers.org/clinvar/237149 ^@ NM_000179.2(MSH6):c.199C>A (p.Pro67Thr) http://identifiers.org/clinvar/237200 ^@ NM_000179.2(MSH6):c.3867C>G (p.Phe1289Leu) http://identifiers.org/clinvar/237350 ^@ NM_000249.3(MLH1):c.885-8C>T http://identifiers.org/clinvar/242194 ^@ NM_198056.2(SCN5A):c.3491C>T (p.Pro1164Leu) http://identifiers.org/clinvar/240355 ^@ NM_006206.4(PDGFRA):c.628+4C>T http://identifiers.org/clinvar/240305 ^@ NM_006206.4(PDGFRA):c.1388C>G (p.Thr463Ser) http://identifiers.org/clinvar/237250 ^@ NM_000222.2(KIT):c.1860C>T (p.Val620=) http://identifiers.org/clinvar/236594 ^@ NM_000038.5(APC):c.3743C>T (p.Thr1248Ile) http://identifiers.org/clinvar/236644 ^@ NM_000038.5(APC):c.7395T>C (p.Leu2465=) http://identifiers.org/clinvar/242244 ^@ NM_198253.2(TERT):c.800A>G (p.Asp267Gly) http://identifiers.org/clinvar/240705 ^@ NM_006772.2(SYNGAP1):c.1776A>G (p.Ser592=) http://identifiers.org/clinvar/237300 ^@ NM_000238.3(KCNH2):c.3216G>A (p.Thr1072=) http://identifiers.org/clinvar/260354 ^@ NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) http://identifiers.org/clinvar/260054 ^@ NM_006846.3(SPINK5):c.2965-10G>C http://identifiers.org/clinvar/263043 ^@ NM_182925.4(FLT4):c.3147C>T (p.Asp1049=) http://identifiers.org/clinvar/260854 ^@ NM_017651.4(AHI1):c.3110-22_3110-19delTCAC http://identifiers.org/clinvar/262393 ^@ NM_138694.3(PKHD1):c.1964+22G>A http://identifiers.org/clinvar/260754 ^@ NM_016616.4(NME8):c.1247+25A>G http://identifiers.org/clinvar/260254 ^@ NM_012431.2(SEMA3E):c.1272G>A (p.Leu424=) http://identifiers.org/clinvar/263093 ^@ NM_194456.1(KRIT1):c.1140G>A (p.Thr380=) http://identifiers.org/clinvar/260904 ^@ NM_017780.3(CHD7):c.4629T>C (p.Asp1543=) http://identifiers.org/clinvar/262743 ^@ NM_153704.5(TMEM67):c.2010A>G (p.Thr670=) http://identifiers.org/clinvar/260404 ^@ NM_014425.4(INVS):c.1079-13G>C http://identifiers.org/clinvar/259804 ^@ NM_005592.3(MUSK):c.1927+50T>C http://identifiers.org/clinvar/260504 ^@ NM_015046.5(SETX):c.3345C>G (p.Ala1115=) http://identifiers.org/clinvar/262443 ^@ NM_139025.4(ADAMTS13):c.3159G>A (p.Ala1053=) http://identifiers.org/clinvar/255065 ^@ NM_000093.4(COL5A1):c.2593-15T>C http://identifiers.org/clinvar/262543 ^@ NM_144966.5(FREM1):c.5004C>A (p.Ile1668=) http://identifiers.org/clinvar/260204 ^@ NM_012144.3(DNAI1):c.2002-8C>T http://identifiers.org/clinvar/262843 ^@ NM_173551.4(ANKS6):c.165C>T (p.Ala55=) http://identifiers.org/clinvar/260454 ^@ NM_014915.2(ANKRD26):c.-59G>A http://identifiers.org/clinvar/260804 ^@ NM_016952.4(CDON):c.641-41G>A http://identifiers.org/clinvar/259654 ^@ NM_005169.3(PHOX2A):c.-19G>A http://identifiers.org/clinvar/258814 ^@ NM_002834.4(PTPN11):c.1278C>T (p.His426=) http://identifiers.org/clinvar/254765 ^@ NM_000053.3(ATP7B):c.2484C>T (p.Gly828=) http://identifiers.org/clinvar/258714 ^@ NM_002471.3(MYH6):c.5565+22A>G http://identifiers.org/clinvar/254865 ^@ NM_000070.2(CAPN3):c.2051-11C>T http://identifiers.org/clinvar/262893 ^@ NM_174916.2(UBR1):c.4054-4C>G http://identifiers.org/clinvar/332499 ^@ NM_002148.3(HOXD10):c.*229_*234dupTATATA http://identifiers.org/clinvar/335640 ^@ NM_001029883.2(C2orf71):c.3590G>A (p.Arg1197His) http://identifiers.org/clinvar/332899 ^@ NM_133378.4(TTN):c.26601C>A (p.Tyr8867Ter) http://identifiers.org/clinvar/332699 ^@ NM_133378.4(TTN):c.94171G>A (p.Glu31391Lys) http://identifiers.org/clinvar/335840 ^@ NM_014946.3(SPAST):c.*157A>C http://identifiers.org/clinvar/332799 ^@ NM_133378.4(TTN):c.59352T>C (p.Leu19784=) http://identifiers.org/clinvar/332849 ^@ NM_133378.4(TTN):c.40967G>C (p.Trp13656Ser) http://identifiers.org/clinvar/333149 ^@ NM_000393.4(COL5A2):c.744+7G>A http://identifiers.org/clinvar/333249 ^@ NM_007315.3(STAT1):c.*1260A>G http://identifiers.org/clinvar/332999 ^@ NM_201548.4(CERKL):c.*276G>T http://identifiers.org/clinvar/336240 ^@ NM_001430.4(EPAS1):c.218-11_218-10insG http://identifiers.org/clinvar/333099 ^@ NM_000393.4(COL5A2):c.*1894C>A http://identifiers.org/clinvar/336547 ^@ NM_001135659.2(NRXN1):c.3357A>G (p.Gly1119=) http://identifiers.org/clinvar/335740 ^@ NM_000379.3(XDH):c.*1094A>C http://identifiers.org/clinvar/333749 ^@ NM_012092.3(ICOS):c.*995C>T http://identifiers.org/clinvar/335790 ^@ NM_000379.3(XDH):c.1242+7T>C http://identifiers.org/clinvar/333799 ^@ NM_014929.3(FASTKD2):c.-15A>G http://identifiers.org/clinvar/333449 ^@ NM_032977.3(CASP10):c.*480A>G http://identifiers.org/clinvar/336847 ^@ NM_002056.3(GFPT1):c.*1540A>T http://identifiers.org/clinvar/336040 ^@ NM_022436.2(ABCG5):c.1258G>A (p.Val420Ile) http://identifiers.org/clinvar/333649 ^@ NM_001204.6(BMPR2):c.2748T>C (p.Leu916=) http://identifiers.org/clinvar/336340 ^@ NM_139279.5(MCFD2):c.*2169G>A http://identifiers.org/clinvar/333849 ^@ NM_014929.3(FASTKD2):c.*3005A>G http://identifiers.org/clinvar/333899 ^@ NM_015040.3(PIKFYVE):c.2164A>G (p.Thr722Ala) http://identifiers.org/clinvar/336597 ^@ NM_001135659.2(NRXN1):c.-1457_-1452dupCTCTCT http://identifiers.org/clinvar/336697 ^@ NM_002618.3(PEX13):c.*1961T>C http://identifiers.org/clinvar/336947 ^@ NM_003494.3(DYSF):c.1119C>T (p.Gly373=) http://identifiers.org/clinvar/335390 ^@ NM_000182.4(HADHA):c.16G>C (p.Ala6Pro) http://identifiers.org/clinvar/335540 ^@ NM_015636.3(EIF2B4):c.721A>G (p.Thr241Ala) http://identifiers.org/clinvar/335690 ^@ NM_004304.4(ALK):c.4344C>T (p.Ser1448=) http://identifiers.org/clinvar/335340 ^@ NM_152783.4(D2HGDH):c.*499G>A http://identifiers.org/clinvar/354442 ^@ NM_004385.4(VCAN):c.7489A>G (p.Lys2497Glu) http://identifiers.org/clinvar/354592 ^@ NM_002397.4(MEF2C):c.-208dupT http://identifiers.org/clinvar/357482 ^@ NM_018100.3(EFHC1):c.800A>G (p.Tyr267Cys) http://identifiers.org/clinvar/354842 ^@ NM_007214.4(SEC63):c.*2662G>A http://identifiers.org/clinvar/351045 ^@ NM_001369.2(DNAH5):c.10593T>A (p.Ser3531=) http://identifiers.org/clinvar/354942 ^@ NM_014028.3(OSTM1):c.*2351delC http://identifiers.org/clinvar/350945 ^@ NM_017415.2(KLHL3):c.*2763C>T http://identifiers.org/clinvar/358182 ^@ NM_183050.3(BCKDHB):c.*560dupT http://identifiers.org/clinvar/358232 ^@ NM_020320.4(RARS2):c.1492A>G (p.Ile498Val) http://identifiers.org/clinvar/358282 ^@ NM_003227.3(TFR2):c.*116C>T http://identifiers.org/clinvar/358332 ^@ NM_000602.4(SERPINE1):c.*1295C>T http://identifiers.org/clinvar/355143 ^@ NM_002667.4(PLN):c.*436_*438delCCA http://identifiers.org/clinvar/355243 ^@ NM_000426.3(LAMA2):c.805A>G (p.Ile269Val) http://identifiers.org/clinvar/351145 ^@ NM_199189.2(MATR3):c.*60A>G http://identifiers.org/clinvar/355393 ^@ NM_006208.2(ENPP1):c.*1539A>G http://identifiers.org/clinvar/355443 ^@ NM_172105.3(EYA4):c.347C>T (p.Ala116Val) http://identifiers.org/clinvar/351245 ^@ NM_002109.5(HARS):c.-23G>A http://identifiers.org/clinvar/351495 ^@ NM_054027.4(ANKH):c.*52G>A http://identifiers.org/clinvar/351595 ^@ NM_024577.3(SH3TC2):c.*19564dupT http://identifiers.org/clinvar/351445 ^@ NM_054027.4(ANKH):c.*2543G>C http://identifiers.org/clinvar/351545 ^@ NM_006846.3(SPINK5):c.3186+8C>T http://identifiers.org/clinvar/351695 ^@ NM_024577.3(SH3TC2):c.*11160C>T http://identifiers.org/clinvar/351795 ^@ NM_024577.3(SH3TC2):c.*6162C>T http://identifiers.org/clinvar/359021 ^@ NM_020632.2(ATP6V0A4):c.1030-14T>A http://identifiers.org/clinvar/359121 ^@ NM_000083.2(CLCN1):c.2230C>A (p.Pro744Thr) http://identifiers.org/clinvar/351945 ^@ NM_000440.2(PDE6A):c.*2336C>T http://identifiers.org/clinvar/351745 ^@ NM_024577.3(SH3TC2):c.*8878T>A http://identifiers.org/clinvar/359271 ^@ NM_014141.5(CNTNAP2):c.*4797G>C http://identifiers.org/clinvar/359321 ^@ NM_016203.3(PRKAG2):c.*1041dupC http://identifiers.org/clinvar/359471 ^@ NM_058246.3(DNAJB6):c.*639A>G http://identifiers.org/clinvar/359571 ^@ NM_001101426.3(ISPD):c.*520C>T http://identifiers.org/clinvar/359921 ^@ NM_018947.5(CYCS):c.*1758C>T http://identifiers.org/clinvar/356682 ^@ NM_018965.3(TREM2):c.-51G>A http://identifiers.org/clinvar/360071 ^@ NM_198428.2(BBS9):c.2538C>T (p.Ile846=) http://identifiers.org/clinvar/360171 ^@ NM_000168.5(GLI3):c.*2357T>A http://identifiers.org/clinvar/357182 ^@ NM_012120.2(CD2AP):c.*319A>C http://identifiers.org/clinvar/357282 ^@ NM_003221.3(TFAP2B):c.1131G>A (p.Pro377=) http://identifiers.org/clinvar/357332 ^@ NM_003221.3(TFAP2B):c.*2499G>C http://identifiers.org/clinvar/357382 ^@ NM_138694.3(PKHD1):c.*1559T>C http://identifiers.org/clinvar/357432 ^@ NM_138694.3(PKHD1):c.7192T>G (p.Trp2398Gly) http://identifiers.org/clinvar/357532 ^@ NM_001723.5(DST):c.*605G>A http://identifiers.org/clinvar/357682 ^@ NM_001142800.1(EYS):c.*529A>C http://identifiers.org/clinvar/357732 ^@ NM_001142800.1(EYS):c.2039T>C (p.Ile680Thr) http://identifiers.org/clinvar/357782 ^@ NM_018368.3(LMBRD1):c.-18T>A http://identifiers.org/clinvar/357882 ^@ NM_014989.5(RIMS1):c.*1453dupA http://identifiers.org/clinvar/361820 ^@ NM_004519.3(KCNQ3):c.*3701G>A http://identifiers.org/clinvar/358132 ^@ NM_022726.3(ELOVL4):c.*667T>C http://identifiers.org/clinvar/299862 ^@ NM_021252.4(RAB18):c.*2943A>G http://identifiers.org/clinvar/363909 ^@ NM_002485.4(NBN):c.*273G>A http://identifiers.org/clinvar/363959 ^@ NM_018444.3(PDP1):c.*1127T>C http://identifiers.org/clinvar/364009 ^@ NM_001001557.3(GDF6):c.*2122C>T http://identifiers.org/clinvar/364259 ^@ NM_001701.3(BAAT):c.*1164C>T http://identifiers.org/clinvar/307016 ^@ NM_052845.3(MMAB):c.*2342G>A http://identifiers.org/clinvar/307066 ^@ NM_052845.3(MMAB):c.*374_*379delTGTGTG http://identifiers.org/clinvar/300412 ^@ NM_022124.5(CDH23):c.2235C>T (p.Ile745=) http://identifiers.org/clinvar/307116 ^@ NM_021625.4(TRPV4):c.*365C>T http://identifiers.org/clinvar/300562 ^@ NM_004273.4(CHST3):c.570C>T (p.Asp190=) http://identifiers.org/clinvar/364459 ^@ NM_005502.3(ABCA1):c.497A>G (p.Lys166Arg) http://identifiers.org/clinvar/300662 ^@ NM_004273.4(CHST3):c.*4049C>A http://identifiers.org/clinvar/307516 ^@ NM_001414.3(EIF2B1):c.*640T>C http://identifiers.org/clinvar/307566 ^@ NM_024809.4(TCTN2):c.*258G>C http://identifiers.org/clinvar/364559 ^@ NM_003640.4(IKBKAP):c.3469G>A (p.Val1157Ile) http://identifiers.org/clinvar/300762 ^@ NM_002658.4(PLAU):c.*3G>A http://identifiers.org/clinvar/364659 ^@ NM_000031.5(ALAD):c.-76+15G>T http://identifiers.org/clinvar/300962 ^@ NM_002247.3(KCNMA1):c.1749+11G>A http://identifiers.org/clinvar/364759 ^@ NM_018249.5(CDK5RAP2):c.3026-4G>A http://identifiers.org/clinvar/307966 ^@ NM_006446.4(SLCO1B1):c.*427G>T http://identifiers.org/clinvar/308066 ^@ NM_004985.4(KRAS):c.*3760A>C http://identifiers.org/clinvar/301112 ^@ NM_001002295.1(GATA3):c.-69G>A http://identifiers.org/clinvar/308316 ^@ NM_139241.3(FGD4):c.*1354A>G http://identifiers.org/clinvar/365059 ^@ NM_003165.3(STXBP1):c.*878C>T http://identifiers.org/clinvar/301562 ^@ NM_000235.3(LIPA):c.*643C>T http://identifiers.org/clinvar/309155 ^@ NM_000217.2(KCNA1):c.*486G>C http://identifiers.org/clinvar/309255 ^@ NM_000486.5(AQP2):c.*1562T>C http://identifiers.org/clinvar/298373 ^@ NM_004376.5(COX15):c.*3661T>C http://identifiers.org/clinvar/309505 ^@ NM_002282.3(KRT83):c.1042-4C>A http://identifiers.org/clinvar/309555 ^@ NM_000424.3(KRT5):c.1705G>A (p.Gly569Arg) http://identifiers.org/clinvar/309605 ^@ NM_000423.2(KRT2):c.1281C>T (p.Ala427=) http://identifiers.org/clinvar/310105 ^@ NM_001065.3(TNFRSF1A):c.1356T>A (p.Ser452Arg) http://identifiers.org/clinvar/302551 ^@ NM_001558.3(IL10RA):c.785G>A (p.Arg262His) http://identifiers.org/clinvar/302601 ^@ NM_174934.3(SCN4B):c.*2220G>T http://identifiers.org/clinvar/302701 ^@ NM_001164277.1(SLC37A4):c.*125G>C http://identifiers.org/clinvar/302851 ^@ NM_005188.3(CBL):c.*4390C>G http://identifiers.org/clinvar/310710 ^@ NM_002108.3(HAL):c.1315G>A (p.Val439Ile) http://identifiers.org/clinvar/302901 ^@ NM_005188.3(CBL):c.*7447A>G http://identifiers.org/clinvar/310760 ^@ NM_003276.2(TMPO):c.81G>T (p.Leu27=) http://identifiers.org/clinvar/302951 ^@ NM_015645.4(C1QTNF5):c.-1131C>T http://identifiers.org/clinvar/312599 ^@ NM_005708.4(GPC6):c.*3701G>A http://identifiers.org/clinvar/312649 ^@ NM_001376.4(DYNC1H1):c.10800T>C (p.Ile3600=) http://identifiers.org/clinvar/314388 ^@ NM_001040108.1(MLH3):c.1300A>G (p.Asn434Asp) http://identifiers.org/clinvar/322073 ^@ NM_144997.5(FLCN):c.-45A>G http://identifiers.org/clinvar/322123 ^@ NM_016239.3(MYO15A):c.2020C>T (p.Pro674Ser) http://identifiers.org/clinvar/314638 ^@ NM_004863.3(SPTLC2):c.*1655G>C http://identifiers.org/clinvar/322423 ^@ NM_003593.2(FOXN1):c.709G>A (p.Gly237Ser) http://identifiers.org/clinvar/314838 ^@ NM_018319.3(TDP1):c.1366+10G>A http://identifiers.org/clinvar/322523 ^@ NM_001045.5(SLC6A4):c.*441T>C http://identifiers.org/clinvar/314938 ^@ NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) http://identifiers.org/clinvar/322723 ^@ NM_145068.3(TRPV3):c.*1229G>C http://identifiers.org/clinvar/315388 ^@ NM_144599.4(NIPA1):c.*2015G>C http://identifiers.org/clinvar/323023 ^@ NM_001004334.3(GPR179):c.1217G>A (p.Arg406His) http://identifiers.org/clinvar/315338 ^@ NM_144599.4(NIPA1):c.*5185C>T http://identifiers.org/clinvar/323173 ^@ NM_002230.2(JUP):c.-51C>G http://identifiers.org/clinvar/313788 ^@ NM_002382.4(MAX):c.*1308C>T http://identifiers.org/clinvar/313888 ^@ NM_015346.3(ZFYVE26):c.5225C>G (p.Ser1742Cys) http://identifiers.org/clinvar/367738 ^@ NM_002294.2(LAMP2):c.*4963delG http://identifiers.org/clinvar/314338 ^@ NM_014239.3(EIF2B2):c.1045_1047delCAT (p.His349del) http://identifiers.org/clinvar/368338 ^@ NM_003334.3(UBA1):c.1543C>A (p.Arg515=) http://identifiers.org/clinvar/314438 ^@ NM_003239.4(TGFB3):c.*824T>C http://identifiers.org/clinvar/316427 ^@ NM_014985.3(CEP152):c.962A>G (p.Asn321Ser) http://identifiers.org/clinvar/314488 ^@ NM_004452.3(ESRRB):c.1419C>T (p.Pro473=) http://identifiers.org/clinvar/316577 ^@ NM_182758.3(WDR72):c.3253+3G>A http://identifiers.org/clinvar/314588 ^@ NM_004863.3(SPTLC2):c.*4478C>A http://identifiers.org/clinvar/368638 ^@ NM_002637.3(PHKA1):c.*629_*630delCT http://identifiers.org/clinvar/316677 ^@ NM_000236.2(LIPC):c.1231G>A (p.Gly411Ser) http://identifiers.org/clinvar/314988 ^@ NM_004239.4(TRIP11):c.-267A>G http://identifiers.org/clinvar/315038 ^@ NM_000295.4(SERPINA1):c.-188G>A http://identifiers.org/clinvar/315088 ^@ NM_177438.2(DICER1):c.*891A>C http://identifiers.org/clinvar/324921 ^@ NM_000346.3(SOX9):c.*18G>A http://identifiers.org/clinvar/324971 ^@ NM_018714.2(COG1):c.2304A>G (p.Thr768=) http://identifiers.org/clinvar/315488 ^@ NM_002420.5(TRPM1):c.4678G>A (p.Val1560Met) http://identifiers.org/clinvar/325321 ^@ NM_004035.6(ACOX1):c.*3621C>G http://identifiers.org/clinvar/325471 ^@ NM_024599.5(RHBDF2):c.-272C>A http://identifiers.org/clinvar/325621 ^@ NM_000546.5(TP53):c.*977G>C http://identifiers.org/clinvar/325571 ^@ NM_006640.4(SEPT9):c.*5_*6insG http://identifiers.org/clinvar/325772 ^@ NM_000152.4(GAA):c.-62A>C http://identifiers.org/clinvar/371893 ^@ NM_006231.3(POLE):c.2026+14G>T http://identifiers.org/clinvar/371993 ^@ NM_004360.4(CDH1):c.1009-14C>T http://identifiers.org/clinvar/372093 ^@ NM_058216.2(RAD51C):c.571+16A>G http://identifiers.org/clinvar/373788 ^@ NM_001035.2(RYR2):c.4733C>G (p.Pro1578Arg) http://identifiers.org/clinvar/373488 ^@ NM_021969.2(NR0B2):c.122G>A (p.Cys41Tyr) http://identifiers.org/clinvar/373388 ^@ NM_006726.4(LRBA):c.6476A>G (p.Asn2159Ser) http://identifiers.org/clinvar/373688 ^@ NM_006514.3(SCN10A):c.3474C>G (p.Ile1158Met) http://identifiers.org/clinvar/373088 ^@ NM_000142.4(FGFR3):c.2374dupG (p.Asp792Glyfs) http://identifiers.org/clinvar/373738 ^@ NM_004415.3(DSP):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/373288 ^@ NM_000314.6(PTEN):c.95T>C (p.Ile32Thr) http://identifiers.org/clinvar/373138 ^@ NM_006204.3(PDE6C):c.724-1G>T http://identifiers.org/clinvar/373538 ^@ NM_012463.3(ATP6V0A2):c.2246A>G (p.Asn749Ser) http://identifiers.org/clinvar/372988 ^@ NM_020366.3(RPGRIP1):c.3339+5G>A http://identifiers.org/clinvar/373338 ^@ NM_014363.5(SACS):c.11884A>T (p.Ile3962Leu) http://identifiers.org/clinvar/373238 ^@ NM_177550.4(SLC13A5):c.1227dupC (p.Ile410Hisfs) http://identifiers.org/clinvar/373438 ^@ NM_000346.3(SOX9):c.479G>C (p.Arg160Pro) http://identifiers.org/clinvar/373188 ^@ NM_173201.3(ATP2A1):c.2588C>G (p.Pro863Arg) http://identifiers.org/clinvar/373038 ^@ NM_176787.4(PIGN):c.181G>T (p.Glu61Ter) http://identifiers.org/clinvar/373638 ^@ NM_004992.3(MECP2):c.377+2dupT http://identifiers.org/clinvar/373588 ^@ NM_000047.2(ARSE):c.752C>T (p.Ala251Val) http://identifiers.org/clinvar/373838 ^@ NG_005905.2:g.116321_140085del http://identifiers.org/clinvar/374041 ^@ NM_000092.4(COL4A4):c.3055G>C (p.Glu1019Gln) http://identifiers.org/clinvar/374091 ^@ NM_018392.4(ZGRF1):c.3596_3597delCT (p.Ser1199Cysfs) http://identifiers.org/clinvar/373991 ^@ NM_001376.4(DYNC1H1):c.5311G>A (p.Gly1771Arg) http://identifiers.org/clinvar/374141 ^@ NM_000296.3(PKD1):c.2079dupG (p.Pro694Alafs) http://identifiers.org/clinvar/374191 ^@ NM_004006.2(DMD):c.1637G>A (p.Trp546Ter) http://identifiers.org/clinvar/373941 ^@ NM_000273.2(GPR143):c.12_36del25 (p.Leu6Glyfs) http://identifiers.org/clinvar/375509 ^@ NM_021007.2(SCN2A):c.4031G>A (p.Cys1344Tyr) http://identifiers.org/clinvar/375566 ^@ NM_032578.3(MYPN):c.1129C>T (p.Arg377Ter) http://identifiers.org/clinvar/390317 ^@ NM_003494.3(DYSF):c.4905C>T (p.Cys1635=) http://identifiers.org/clinvar/380202 ^@ NM_000179.2(MSH6):c.-38C>G http://identifiers.org/clinvar/390067 ^@ NM_212552.2(BOLA3):c.258+9A>C http://identifiers.org/clinvar/382446 ^@ NM_000179.2(MSH6):c.2400T>G (p.Val800=) http://identifiers.org/clinvar/388728 ^@ NM_014929.3(FASTKD2):c.1255-16A>G http://identifiers.org/clinvar/391217 ^@ NM_033109.4(PNPT1):c.1074-12A>G http://identifiers.org/clinvar/380453 ^@ NM_004130.3(GYG1):c.159A>G (p.Thr53=) http://identifiers.org/clinvar/389078 ^@ NM_000249.3(MLH1):c.2064G>A (p.Lys688=) http://identifiers.org/clinvar/393106 ^@ NM_001184.3(ATR):c.6898-15C>T http://identifiers.org/clinvar/389178 ^@ NM_133259.3(LRPPRC):c.1677+18T>A http://identifiers.org/clinvar/390417 ^@ NM_005787.5(ALG3):c.24C>T (p.Arg8=) http://identifiers.org/clinvar/388078 ^@ NM_004656.3(BAP1):c.528C>T (p.Ile176=) http://identifiers.org/clinvar/381544 ^@ NM_006514.3(SCN10A):c.4763G>A (p.Arg1588Gln) http://identifiers.org/clinvar/390617 ^@ NM_000179.2(MSH6):c.2283G>A (p.Arg761=) http://identifiers.org/clinvar/383097 ^@ NM_005051.2(QARS):c.1014T>C (p.Tyr338=) http://identifiers.org/clinvar/383749 ^@ NM_058172.5(ANTXR2):c.134T>G (p.Leu45Arg) http://identifiers.org/clinvar/381895 ^@ NM_000038.5(APC):c.4512C>G (p.Ser1504=) http://identifiers.org/clinvar/388478 ^@ NM_001148.4(ANK2):c.10770A>G (p.Glu3590=) http://identifiers.org/clinvar/385639 ^@ NM_025132.3(WDR19):c.2421+5C>G http://identifiers.org/clinvar/381344 ^@ NM_000038.5(APC):c.835-15G>A http://identifiers.org/clinvar/390267 ^@ NM_000038.5(APC):c.7146A>T (p.Thr2382=) http://identifiers.org/clinvar/391267 ^@ NM_001999.3(FBN2):c.533-4G>T http://identifiers.org/clinvar/391017 ^@ NM_000249.3(MLH1):c.31C>T (p.Leu11=) http://identifiers.org/clinvar/388578 ^@ NM_033071.3(SYNE1):c.16962C>T (p.Thr5654=) http://identifiers.org/clinvar/383698 ^@ NM_005051.2(QARS):c.693C>T (p.Phe231=) http://identifiers.org/clinvar/382597 ^@ NM_003280.2(TNNC1):c.24+6G>A http://identifiers.org/clinvar/390367 ^@ NM_033071.3(SYNE1):c.26009+18T>A http://identifiers.org/clinvar/382195 ^@ NM_014141.5(CNTNAP2):c.741C>G (p.Leu247=) http://identifiers.org/clinvar/385989 ^@ NM_018341.2(ERMARD):c.1112A>G (p.His371Arg) http://identifiers.org/clinvar/392956 ^@ NM_178014.3(TUBB):c.682C>G (p.Leu228Val) http://identifiers.org/clinvar/386189 ^@ NM_001458.4(FLNC):c.3951C>T (p.Thr1317=) http://identifiers.org/clinvar/389228 ^@ NM_000742.3(CHRNA2):c.141G>A (p.Thr47=) http://identifiers.org/clinvar/387928 ^@ NM_000535.6(PMS2):c.2025A>G (p.Glu675=) http://identifiers.org/clinvar/392856 ^@ NM_001018116.2(CAVIN4):c.161T>G (p.Ile54Arg) http://identifiers.org/clinvar/387878 ^@ NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) http://identifiers.org/clinvar/391167 ^@ NM_022455.4(NSD1):c.198A>G (p.Pro66=) http://identifiers.org/clinvar/387378 ^@ NM_002485.4(NBN):c.2149A>G (p.Thr717Ala) http://identifiers.org/clinvar/383598 ^@ NM_017651.4(AHI1):c.573A>C (p.Ala191=) http://identifiers.org/clinvar/389128 ^@ NM_153704.5(TMEM67):c.1351C>A (p.Arg451=) http://identifiers.org/clinvar/388528 ^@ NM_001130438.2(SPTAN1):c.7248C>T (p.Ser2416=) http://identifiers.org/clinvar/382496 ^@ NM_021830.4(TWNK):c.799C>G (p.Leu267Val) http://identifiers.org/clinvar/383548 ^@ NM_005445.3(SMC3):c.562A>G (p.Lys188Glu) http://identifiers.org/clinvar/382296 ^@ NM_001130438.2(SPTAN1):c.5734-11T>G http://identifiers.org/clinvar/133031 ^@ NM_000540.2(RYR1):c.12095-129G>C http://identifiers.org/clinvar/133081 ^@ NM_000540.2(RYR1):c.14627A>G (p.Lys4876Arg) http://identifiers.org/clinvar/133131 ^@ NM_000540.2(RYR1):c.45+300T>C http://identifiers.org/clinvar/133181 ^@ NM_000540.2(RYR1):c.7043A>G (p.Glu2348Gly) http://identifiers.org/clinvar/133231 ^@ NM_000540.2(RYR1):c.8617-35C>T http://identifiers.org/clinvar/133310 ^@ NM_194248.2(OTOF):c.897+1G>T http://identifiers.org/clinvar/133373 ^@ NM_018313.4(PBRM1):c.1541+2334A>G http://identifiers.org/clinvar/133423 ^@ NM_000548.4(TSC2):c.-30+1G>T http://identifiers.org/clinvar/133473 ^@ NM_004304.4(ALK):c.4416A>T (p.Glu1472Asp) http://identifiers.org/clinvar/133524 ^@ NM_000038.5(APC):c.1959G>A (p.Arg653=) http://identifiers.org/clinvar/133574 ^@ NM_152641.3(ARID2):c.292G>A (p.Glu98Lys) http://identifiers.org/clinvar/133624 ^@ NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln) http://identifiers.org/clinvar/133674 ^@ NM_001706.4(BCL6):c.1364C>T (p.Thr455Met) http://identifiers.org/clinvar/133724 ^@ NM_007294.3(BRCA1):c.3277G>T (p.Val1093Phe) http://identifiers.org/clinvar/133778 ^@ NM_001211.5(BUB1B):c.1041_1042delTG (p.Ala348Thrfs) http://identifiers.org/clinvar/133828 ^@ NM_001321786.1(CBLB):c.905A>C (p.Gln302Pro) http://identifiers.org/clinvar/133878 ^@ NM_000077.4(CDKN2A):c.149A>T (p.Gln50Leu) http://identifiers.org/clinvar/134571 ^@ NM_000215.3(JAK3):c.2062A>T (p.Ile688Phe) http://identifiers.org/clinvar/134621 ^@ NM_000222.2(KIT):c.1588G>A (p.Val530Ile) http://identifiers.org/clinvar/134673 ^@ NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) http://identifiers.org/clinvar/134724 ^@ NM_003482.3(KMT2D):c.13796C>T (p.Ala4599Val) http://identifiers.org/clinvar/134774 ^@ NM_170606.2(KMT2C):c.8507A>G (p.Lys2836Arg) http://identifiers.org/clinvar/134825 ^@ NM_005373.2(MPL):c.340G>A (p.Val114Met) http://identifiers.org/clinvar/134878 ^@ NM_002485.4(NBN):c.797C>T (p.Pro266Leu) http://identifiers.org/clinvar/134928 ^@ NM_017617.4(NOTCH1):c.3598G>A (p.Asp1200Asn) http://identifiers.org/clinvar/135028 ^@ NM_006206.4(PDGFRA):c.1122G>C (p.Arg374Ser) http://identifiers.org/clinvar/135079 ^@ NM_001198.3(PRDM1):c.1147A>G (p.Thr383Ala) http://identifiers.org/clinvar/135130 ^@ NM_004260.3(RECQL4):c.1708C>T (p.Arg570Trp) http://identifiers.org/clinvar/135181 ^@ NM_020975.4(RET):c.3185A>G (p.Tyr1062Cys) http://identifiers.org/clinvar/135513 ^@ NM_030621.4(DICER1):c.5095+13C>T http://identifiers.org/clinvar/135564 ^@ NM_005373.2(MPL):c.1565+5C>T http://identifiers.org/clinvar/135638 ^@ NM_003647.2(DGKE):c.472dupT (p.Trp158Leufs) http://identifiers.org/clinvar/135698 ^@ NM_000038.5(APC):c.3628C>T (p.His1210Tyr) http://identifiers.org/clinvar/135749 ^@ NM_000051.3(ATM):c.3208G>A (p.Val1070Ile) http://identifiers.org/clinvar/135807 ^@ NM_000059.3(BRCA2):c.6173T>G (p.Phe2058Cys) http://identifiers.org/clinvar/135858 ^@ NM_000251.2(MSH2):c.2575G>A (p.Glu859Lys) http://identifiers.org/clinvar/135908 ^@ NM_000264.3(PTCH1):c.884C>T (p.Pro295Leu) http://identifiers.org/clinvar/135958 ^@ NM_001127500.2(MET):c.1312C>G (p.Leu438Val) http://identifiers.org/clinvar/136010 ^@ NM_001166110.1(PALLD):c.640-9G>A http://identifiers.org/clinvar/136060 ^@ NM_004360.4(CDH1):c.1565+6T>C http://identifiers.org/clinvar/136111 ^@ NM_020975.4(RET):c.2449C>T (p.Arg817Cys) http://identifiers.org/clinvar/136161 ^@ NM_058216.2(RAD51C):c.602T>C (p.Leu201Pro) http://identifiers.org/clinvar/136222 ^@ NM_020745.3(AARS2):c.420G>A (p.Gly140=) http://identifiers.org/clinvar/136273 ^@ NM_174917.4(ACSF3):c.315T>C (p.Asp105=) http://identifiers.org/clinvar/136323 ^@ NM_004208.3(AIFM1):c.1329C>T (p.Tyr443=) http://identifiers.org/clinvar/136374 ^@ NM_001182.4(ALDH7A1):c.1094-20C>G http://identifiers.org/clinvar/183873 ^@ NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) http://identifiers.org/clinvar/186213 ^@ NM_032043.2(BRIP1):c.1208G>A (p.Arg403Gln) http://identifiers.org/clinvar/185813 ^@ NM_032043.2(BRIP1):c.357T>C (p.Asn119=) http://identifiers.org/clinvar/186063 ^@ NM_000546.5(TP53):c.255T>A (p.Pro85=) http://identifiers.org/clinvar/186363 ^@ NM_000546.5(TP53):c.145G>A (p.Asp49Asn) http://identifiers.org/clinvar/186313 ^@ NM_000546.5(TP53):c.100C>G (p.Pro34Ala) http://identifiers.org/clinvar/183973 ^@ NM_000455.4(STK11):c.219C>T (p.Cys73=) http://identifiers.org/clinvar/184074 ^@ NM_000455.4(STK11):c.720G>A (p.Ser240=) http://identifiers.org/clinvar/184124 ^@ NM_007194.3(CHEK2):c.1176G>T (p.Ala392=) http://identifiers.org/clinvar/186263 ^@ NM_007194.3(CHEK2):c.322T>A (p.Cys108Ser) http://identifiers.org/clinvar/187815 ^@ NM_014795.3(ZEB2):c.808-1G>T http://identifiers.org/clinvar/187887 ^@ NM_005957.4(MTHFR):c.1042C>T (p.Pro348Ser) http://identifiers.org/clinvar/187937 ^@ NM_004409.4(DMPK):c.*224_*226[214] http://identifiers.org/clinvar/187987 ^@ NM_004409.4(DMPK):c.*224_*226[46] http://identifiers.org/clinvar/188037 ^@ NM_004409.4(DMPK):c.*224_*226[84] http://identifiers.org/clinvar/188241 ^@ NM_000038.5(APC):c.6966G>C (p.Gln2322His) http://identifiers.org/clinvar/188294 ^@ NM_003227.3(TFR2):c.829G>T (p.Val277Leu) http://identifiers.org/clinvar/188189 ^@ NM_032667.6(BSCL2):c.690C>G (p.Phe230Leu) http://identifiers.org/clinvar/188139 ^@ NM_015346.3(ZFYVE26):c.5678G>T (p.Ser1893Ile) http://identifiers.org/clinvar/188087 ^@ NM_005359.5(SMAD4):c.1448G>A (p.Ser483Asn) http://identifiers.org/clinvar/188348 ^@ NM_000455.4(STK11):c.580G>A (p.Asp194Asn) http://identifiers.org/clinvar/188507 ^@ NM_000249.3(MLH1):c.1_116del116 (p.Met1Phefs) http://identifiers.org/clinvar/188457 ^@ NM_004415.3(DSP):c.1267-30G>A http://identifiers.org/clinvar/188557 ^@ NM_000256.3(MYBPC3):c.1791-15A>G http://identifiers.org/clinvar/188657 ^@ NM_004572.3(PKP2):c.1170+1G>A http://identifiers.org/clinvar/188607 ^@ NM_000257.3(MYH7):c.1579-17C>T http://identifiers.org/clinvar/188707 ^@ NM_001018005.1(TPM1):c.851+25C>T http://identifiers.org/clinvar/188405 ^@ NM_007294.3(BRCA1):c.885_886delCA (p.Asp295Glufs) http://identifiers.org/clinvar/188857 ^@ NM_000310.3(PPT1):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/188757 ^@ NM_000128.3(F11):c.961_962delTG (p.Cys321Hisfs) http://identifiers.org/clinvar/188958 ^@ NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) http://identifiers.org/clinvar/188807 ^@ NM_005609.3(PYGM):c.1797delT (p.Phe599Leufs) http://identifiers.org/clinvar/188908 ^@ NM_000053.3(ATP7B):c.4088C>T (p.Ser1363Phe) http://identifiers.org/clinvar/189059 ^@ NM_000152.4(GAA):c.365delT (p.Met122Argfs) http://identifiers.org/clinvar/189009 ^@ NM_000152.4(GAA):c.2608C>T (p.Arg870Ter) http://identifiers.org/clinvar/189599 ^@ NM_003159.2(CDKL5):c.91A>G (p.Arg31Gly) http://identifiers.org/clinvar/189549 ^@ NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) http://identifiers.org/clinvar/227734 ^@ NM_006393.2(NEBL):c.2547C>T (p.Gly849=) http://identifiers.org/clinvar/228974 ^@ NM_017433.4(MYO3A):c.1207A>G (p.Ser403Gly) http://identifiers.org/clinvar/227684 ^@ NM_000260.3(MYO7A):c.3924+31_3924+46dup http://identifiers.org/clinvar/228574 ^@ NM_019887.5(DIABLO):c.315+6T>A http://identifiers.org/clinvar/229124 ^@ NM_012226.4(P2RX2):c.143G>A (p.Arg48Gln) http://identifiers.org/clinvar/227584 ^@ NM_002471.3(MYH6):c.1131C>T (p.Asp377=) http://identifiers.org/clinvar/228524 ^@ NM_004086.2(COCH):c.271C>T (p.Arg91Ter) http://identifiers.org/clinvar/228674 ^@ NM_004452.3(ESRRB):c.397+5G>A http://identifiers.org/clinvar/229274 ^@ NC_000015.10:g.(?_43600534)_(43601014_?)dup http://identifiers.org/clinvar/227634 ^@ NM_016239.3(MYO15A):c.1387A>G (p.Met463Val) http://identifiers.org/clinvar/228624 ^@ NM_004949.4(DSC2):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/229024 ^@ NM_003803.3(MYOM1):c.3413G>A (p.Arg1138His) http://identifiers.org/clinvar/228824 ^@ NM_144612.6(LOXHD1):c.3941C>T (p.Thr1314Ile) http://identifiers.org/clinvar/228874 ^@ NM_001145809.1(MYH14):c.3914G>A (p.Arg1305His) http://identifiers.org/clinvar/229324 ^@ NM_024022.2(TMPRSS3):c.1172C>T (p.Thr391Met) http://identifiers.org/clinvar/228924 ^@ NM_002473.5(MYH9):c.2159+6C>T http://identifiers.org/clinvar/229374 ^@ NM_144991.2(TSPEAR):c.1864G>A (p.Gly622Ser) http://identifiers.org/clinvar/234371 ^@ NM_000249.3(MLH1):c.589-9_589-6delGTTT http://identifiers.org/clinvar/234440 ^@ NM_000535.6(PMS2):c.418A>G (p.Asn140Asp) http://identifiers.org/clinvar/234490 ^@ NM_000314.6(PTEN):c.-851G>A http://identifiers.org/clinvar/234262 ^@ NM_000051.3(ATM):c.799A>G (p.Thr267Ala) http://identifiers.org/clinvar/234541 ^@ NM_004655.3(AXIN2):c.1904A>G (p.His635Arg) http://identifiers.org/clinvar/234319 ^@ NM_000214.2(JAG1):c.694+1G>A http://identifiers.org/clinvar/232465 ^@ NM_003000.2(SDHB):c.264C>G (p.Thr88=) http://identifiers.org/clinvar/231765 ^@ NM_000143.3(FH):c.92C>T (p.Ala31Val) http://identifiers.org/clinvar/231965 ^@ NM_001128425.1(MUTYH):c.755A>G (p.Asp252Gly) http://identifiers.org/clinvar/233205 ^@ NM_000465.3(BARD1):c.1768G>T (p.Val590Leu) http://identifiers.org/clinvar/229776 ^@ NM_000251.2(MSH2):c.464T>A (p.Val155Asp) http://identifiers.org/clinvar/229726 ^@ NM_000251.2(MSH2):c.488T>C (p.Val163Ala) http://identifiers.org/clinvar/233405 ^@ NM_000251.2(MSH2):c.938T>C (p.Phe313Ser) http://identifiers.org/clinvar/231465 ^@ NM_000251.2(MSH2):c.1749T>C (p.Asn583=) http://identifiers.org/clinvar/232265 ^@ NM_000179.2(MSH6):c.916G>A (p.Gly306Arg) http://identifiers.org/clinvar/231915 ^@ NM_000179.2(MSH6):c.1958T>C (p.Val653Ala) http://identifiers.org/clinvar/231365 ^@ NM_000179.2(MSH6):c.3841G>C (p.Glu1281Gln) http://identifiers.org/clinvar/231565 ^@ NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) http://identifiers.org/clinvar/234208 ^@ NM_000249.3(MLH1):c.196A>G (p.Thr66Ala) http://identifiers.org/clinvar/264722 ^@ NM_001242896.1(DEPDC5):c.730C>T (p.Gln244Ter) http://identifiers.org/clinvar/264877 ^@ NM_000059.3(BRCA2):c.681+325_681+326dup http://identifiers.org/clinvar/264977 ^@ NM_000059.3(BRCA2):c.6842-839del http://identifiers.org/clinvar/264927 ^@ NM_000059.3(BRCA2):c.8331+1715del http://identifiers.org/clinvar/264827 ^@ NM_007294.3(BRCA1):c.4358-1475del http://identifiers.org/clinvar/264777 ^@ NM_007294.3(BRCA1):c.134+1335dup http://identifiers.org/clinvar/265082 ^@ NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) http://identifiers.org/clinvar/265132 ^@ NM_000127.2(EXT1):c.1878C>G (p.Tyr626Ter) http://identifiers.org/clinvar/265029 ^@ NM_000382.2(ALDH3A2):c.374_378delCCATC (p.Ala125Glyfs) http://identifiers.org/clinvar/266022 ^@ NM_019023.2(PRMT7):c.95G>C (p.Arg32Thr) http://identifiers.org/clinvar/266098 ^@ NM_001244189.1(KIAA0586):c.4191delA (p.Arg1397Serfs) http://identifiers.org/clinvar/266948 ^@ NM_000059.3(BRCA2):c.643G>T (p.Glu215Ter) http://identifiers.org/clinvar/266998 ^@ NM_000059.3(BRCA2):c.728dupA (p.Asn243Lysfs) http://identifiers.org/clinvar/267048 ^@ NM_000059.3(BRCA2):c.798delT (p.Phe266Leufs) http://identifiers.org/clinvar/266648 ^@ NM_000059.3(BRCA2):c.1621G>T (p.Glu541Ter) http://identifiers.org/clinvar/266698 ^@ NM_000059.3(BRCA2):c.2430_2437delCAAAAATA (p.Lys811Serfs) http://identifiers.org/clinvar/266748 ^@ NM_000059.3(BRCA2):c.3346_3347delAC (p.Thr1116Tyrfs) http://identifiers.org/clinvar/266798 ^@ NM_000059.3(BRCA2):c.4264_4270delGAGACTT (p.Glu1422Leufs) http://identifiers.org/clinvar/266848 ^@ NM_000059.3(BRCA2):c.5115_5119delAAATAinsG (p.Ile1705Metfs) http://identifiers.org/clinvar/266898 ^@ NM_000059.3(BRCA2):c.5835_5842dupATCACCTT (p.Cys1948Tyrfs) http://identifiers.org/clinvar/267098 ^@ NM_000059.3(BRCA2):c.8566delG (p.Glu2856Argfs) http://identifiers.org/clinvar/267148 ^@ NM_000059.3(BRCA2):c.9277_9287delTTGTCAGACGA (p.Leu3093Metfs) http://identifiers.org/clinvar/266548 ^@ NM_007294.3(BRCA1):c.5348delT (p.Met1783Argfs) http://identifiers.org/clinvar/266498 ^@ NM_007294.3(BRCA1):c.4860_4941del82 (p.Asp1621Lysfs) http://identifiers.org/clinvar/266448 ^@ NM_007294.3(BRCA1):c.4126_4129delACAA (p.Thr1376Alafs) http://identifiers.org/clinvar/266398 ^@ NM_007294.3(BRCA1):c.3669delT (p.Cys1225Alafs) http://identifiers.org/clinvar/266298 ^@ NM_007294.3(BRCA1):c.2750delT (p.Ile917Thrfs) http://identifiers.org/clinvar/266248 ^@ NM_007294.3(BRCA1):c.2314_2315delGT (p.Val772Thrfs) http://identifiers.org/clinvar/266148 ^@ NM_007294.3(BRCA1):c.1252dupG (p.Glu418Glyfs) http://identifiers.org/clinvar/266598 ^@ NM_007294.3(BRCA1):c.966delT (p.Gly323Glufs) http://identifiers.org/clinvar/266198 ^@ NM_007294.3(BRCA1):c.190_211del22 (p.Cys64Glyfs) http://identifiers.org/clinvar/267277 ^@ NM_005918.3(MDH2):c.109G>A (p.Gly37Arg) http://identifiers.org/clinvar/267217 ^@ NM_007294.3(BRCA1):c.242A>T (p.Gln81Leu) http://identifiers.org/clinvar/267350 ^@ NM_001733.4:c.149_150TC>AT http://identifiers.org/clinvar/267419 ^@ NM_017780.3(CHD7):c.2215G>T (p.Glu739Ter) http://identifiers.org/clinvar/267705 ^@ NM_000059.3(BRCA2):c.8755-?_9117+?del http://identifiers.org/clinvar/267784 ^@ NM_006087.3(TUBB4A):c.968T>G (p.M323R) http://identifiers.org/clinvar/267835 ^@ 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn http://identifiers.org/clinvar/267885 ^@ 46;XY;t(2;6)(q33;q21)dn http://identifiers.org/clinvar/267935 ^@ 46;XX;inv(6)(p24q11)dn http://identifiers.org/clinvar/290927 ^@ NM_001849.3(COL6A2):c.1720G>C (p.Val574Leu) http://identifiers.org/clinvar/290977 ^@ NM_138694.3(PKHD1):c.2269A>C (p.Ile757Leu) http://identifiers.org/clinvar/291027 ^@ NM_005603.4(ATP8B1):c.1659C>T (p.Pro553=) http://identifiers.org/clinvar/291077 ^@ NM_033071.3(SYNE1):c.16994-9C>A http://identifiers.org/clinvar/291127 ^@ NM_213599.2(ANO5):c.899T>A (p.Ile300Asn) http://identifiers.org/clinvar/291178 ^@ NM_014053.3(FLVCR1):c.1619_1631delAAGAACCAAAAACinsGACCCAAAAAT (p.Gln540Argfs) http://identifiers.org/clinvar/291228 ^@ NM_001849.3(COL6A2):c.2940G>A (p.Val980=) http://identifiers.org/clinvar/291278 ^@ NM_003742.2(ABCB11):c.1769A>G (p.Asp590Gly) http://identifiers.org/clinvar/291393 ^@ NM_001918.3(DBT):c.*6901T>A http://identifiers.org/clinvar/291443 ^@ NM_001918.3(DBT):c.*682_*685delTTAA http://identifiers.org/clinvar/291493 ^@ NM_001854.3(COL11A1):c.4965T>G (p.Ser1655=) http://identifiers.org/clinvar/291543 ^@ NM_001854.3(COL11A1):c.828A>G (p.Ala276=) http://identifiers.org/clinvar/291593 ^@ NM_015074.3(KIF1B):c.*281_*282dupTA http://identifiers.org/clinvar/293345 ^@ NM_003001.3(SDHC):c.*1323G>A http://identifiers.org/clinvar/293595 ^@ NM_000130.4(F5):c.4405T>C (p.Ser1469Pro) http://identifiers.org/clinvar/293795 ^@ NM_022089.3(ATP13A2):c.1208C>A (p.Ala403Glu) http://identifiers.org/clinvar/293495 ^@ NM_005149.2(TBX19):c.*746A>G http://identifiers.org/clinvar/293695 ^@ NM_006894.5(FMO3):c.1204A>G (p.Met402Val) http://identifiers.org/clinvar/293645 ^@ NM_000130.4(F5):c.-40T>C http://identifiers.org/clinvar/293745 ^@ NM_000639.2(FASLG):c.*306A>C http://identifiers.org/clinvar/293995 ^@ NM_005562.2(LAMC2):c.589C>T (p.Arg197Cys) http://identifiers.org/clinvar/293895 ^@ NM_002065.6(GLUL):c.*2074G>A http://identifiers.org/clinvar/294045 ^@ NM_005562.2(LAMC2):c.*1067C>T http://identifiers.org/clinvar/294095 ^@ NM_031935.2(HMCN1):c.57C>T (p.Ser19=) http://identifiers.org/clinvar/294145 ^@ NM_031935.2(HMCN1):c.4439C>T (p.Thr1480Ile) http://identifiers.org/clinvar/294195 ^@ NM_031935.2(HMCN1):c.8166T>C (p.Asn2722=) http://identifiers.org/clinvar/294245 ^@ NM_031935.2(HMCN1):c.12189G>A (p.Pro4063=) http://identifiers.org/clinvar/293395 ^@ NM_004431.4(EPHA2):c.*624C>T http://identifiers.org/clinvar/294295 ^@ NM_031935.2(HMCN1):c.15531T>C (p.Cys5177=) http://identifiers.org/clinvar/293445 ^@ NM_004431.4(EPHA2):c.523C>T (p.Arg175Cys) http://identifiers.org/clinvar/293545 ^@ NM_000130.4(F5):c.*1780G>T http://identifiers.org/clinvar/293845 ^@ NM_014625.3(NPHS2):c.*54G>C http://identifiers.org/clinvar/295034 ^@ NM_005216.4(DDOST):c.*574_*577dupTAAA http://identifiers.org/clinvar/295134 ^@ NM_005216.4(DDOST):c.834C>T (p.Pro278=) http://identifiers.org/clinvar/344176 ^@ NM_198407.2(GHSR):c.*1608C>T http://identifiers.org/clinvar/344226 ^@ NM_031955.5(SPATA16):c.105G>A (p.Ala35=) http://identifiers.org/clinvar/344276 ^@ NM_181426.1(CCDC39):c.821G>A (p.Gly274Glu) http://identifiers.org/clinvar/335890 ^@ NM_014946.3(SPAST):c.*2987G>C http://identifiers.org/clinvar/335940 ^@ NM_000104.3(CYP1B1):c.*661T>A http://identifiers.org/clinvar/335990 ^@ NM_005633.3(SOS1):c.*1684G>C http://identifiers.org/clinvar/344426 ^@ NM_003722.4(TP63):c.*2197C>A http://identifiers.org/clinvar/336397 ^@ NM_002354.2(EPCAM):c.-280G>C http://identifiers.org/clinvar/336090 ^@ NM_022437.2(ABCG8):c.1782C>T (p.Ser594=) http://identifiers.org/clinvar/344576 ^@ NM_000461.4(THRB):c.*3459C>T http://identifiers.org/clinvar/336497 ^@ NM_001135659.2(NRXN1):c.*3278T>G http://identifiers.org/clinvar/344626 ^@ NM_000461.4(THRB):c.*602G>A http://identifiers.org/clinvar/336140 ^@ NM_133259.3(LRPPRC):c.*409C>G http://identifiers.org/clinvar/336190 ^@ NM_000341.3(SLC3A1):c.460G>T (p.Ala154Ser) http://identifiers.org/clinvar/336290 ^@ NM_001430.4(EPAS1):c.*486C>T http://identifiers.org/clinvar/344826 ^@ NM_006371.4(CRTAP):c.*777C>A http://identifiers.org/clinvar/344876 ^@ NM_006371.4(CRTAP):c.*3949C>T http://identifiers.org/clinvar/336747 ^@ NM_032180.2(FAM161A):c.-41T>C http://identifiers.org/clinvar/336447 ^@ NM_000233.3(LHCGR):c.*535G>A http://identifiers.org/clinvar/345026 ^@ NM_001106.3(ACVR2B):c.*7719delA http://identifiers.org/clinvar/336647 ^@ NM_001039348.2(EFEMP1):c.-464C>T http://identifiers.org/clinvar/344376 ^@ NM_000460.3(THPO):c.-136T>C http://identifiers.org/clinvar/336797 ^@ NM_002056.3(GFPT1):c.*5001G>A http://identifiers.org/clinvar/345476 ^@ NM_024513.3(FYCO1):c.*1056C>T http://identifiers.org/clinvar/336897 ^@ NM_001002755.2(NFU1):c.-66C>T http://identifiers.org/clinvar/344676 ^@ NM_003242.5(TGFBR2):c.*598G>T http://identifiers.org/clinvar/344926 ^@ NM_001106.3(ACVR2B):c.*204C>T http://identifiers.org/clinvar/345076 ^@ NM_198056.2(SCN5A):c.*1496T>G http://identifiers.org/clinvar/345126 ^@ NM_198056.2(SCN5A):c.1870C>A (p.Leu624Ile) http://identifiers.org/clinvar/346165 ^@ NM_052859.3(RFT1):c.*1533G>A http://identifiers.org/clinvar/346265 ^@ NM_003392.4(WNT5A):c.*38C>T http://identifiers.org/clinvar/346515 ^@ NM_000248.3(MITF):c.*576dupA http://identifiers.org/clinvar/345426 ^@ NM_020208.3(SLC6A20):c.258T>A (p.Gly86=) http://identifiers.org/clinvar/346565 ^@ NM_032682.5(FOXP1):c.*3407_*3414dupTGTGTGTG http://identifiers.org/clinvar/346715 ^@ NM_002942.4(ROBO2):c.4064G>A (p.Arg1355His) http://identifiers.org/clinvar/346315 ^@ NM_001457.3(FLNB):c.1748-5C>G http://identifiers.org/clinvar/346365 ^@ NM_001457.3(FLNB):c.7167C>T (p.Ala2389=) http://identifiers.org/clinvar/346615 ^@ NM_032682.5(FOXP1):c.*1043T>A http://identifiers.org/clinvar/346765 ^@ NM_002942.4(ROBO2):c.*3288delT http://identifiers.org/clinvar/346865 ^@ NM_000313.3(PROS1):c.*1167_*1170delTTTG http://identifiers.org/clinvar/362120 ^@ NM_000497.3(CYP11B1):c.*1076C>T http://identifiers.org/clinvar/362270 ^@ NM_003923.2(FOXH1):c.*472G>T http://identifiers.org/clinvar/354392 ^@ NM_004385.4(VCAN):c.690T>C (p.Tyr230=) http://identifiers.org/clinvar/362770 ^@ NM_001017420.2(ESCO2):c.*982T>C http://identifiers.org/clinvar/354492 ^@ NM_004385.4(VCAN):c.*1429A>G http://identifiers.org/clinvar/354692 ^@ NM_001491.2(GCNT2):c.-662_-657delTTACAAinsCCCCACTTTTT http://identifiers.org/clinvar/359071 ^@ NM_018238.3(AGK):c.*320G>A http://identifiers.org/clinvar/354742 ^@ NM_020381.3(PDSS2):c.*2032dupA http://identifiers.org/clinvar/359171 ^@ NM_014141.5(CNTNAP2):c.-115G>A http://identifiers.org/clinvar/354792 ^@ NM_020381.3(PDSS2):c.-237T>C http://identifiers.org/clinvar/354892 ^@ NM_007214.4(SEC63):c.1936-4_1936-3insT http://identifiers.org/clinvar/355042 ^@ NM_014845.5(FIG4):c.1863C>A (p.Thr621=) http://identifiers.org/clinvar/355093 ^@ NM_000493.3(COL10A1):c.1420C>T (p.Pro474Ser) http://identifiers.org/clinvar/363709 ^@ NM_017866.5(TMEM70):c.*714G>A http://identifiers.org/clinvar/359771 ^@ NM_032581.3(FAM126A):c.1220G>A (p.Arg407Gln) http://identifiers.org/clinvar/355493 ^@ NM_017651.4(AHI1):c.*80C>T http://identifiers.org/clinvar/355293 ^@ NM_000426.3(LAMA2):c.6832A>G (p.Met2278Val) http://identifiers.org/clinvar/355593 ^@ NM_003630.2(PEX3):c.*1332A>G http://identifiers.org/clinvar/355343 ^@ NM_006208.2(ENPP1):c.1566-14T>C http://identifiers.org/clinvar/360121 ^@ NM_133468.4(BMPER):c.*52C>T http://identifiers.org/clinvar/364309 ^@ NM_000035.3(ALDOB):c.698T>A (p.Met233Lys) http://identifiers.org/clinvar/355543 ^@ NM_000288.3(PEX7):c.*305C>T http://identifiers.org/clinvar/360271 ^@ NM_000290.3(PGAM2):c.596-3T>C http://identifiers.org/clinvar/364359 ^@ NM_005502.3(ABCA1):c.*1204A>T http://identifiers.org/clinvar/364509 ^@ NM_001079802.1(FKTN):c.*2904G>A http://identifiers.org/clinvar/364809 ^@ NM_000177.4(GSN):c.1323C>T (p.Asp441=) http://identifiers.org/clinvar/364959 ^@ NM_002316.3(LMX1B):c.*2831C>T http://identifiers.org/clinvar/364859 ^@ NM_000550.2(TYRP1):c.1560A>G (p.Gln520=) http://identifiers.org/clinvar/365009 ^@ NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) http://identifiers.org/clinvar/356482 ^@ NM_182548.3(LHFPL5):c.-161A>G http://identifiers.org/clinvar/356582 ^@ NM_001145717.1(PNPLA1):c.*528G>C http://identifiers.org/clinvar/356982 ^@ NM_006502.2(POLH):c.*3685G>A http://identifiers.org/clinvar/357132 ^@ NM_001024630.3(RUNX2):c.*2697delC http://identifiers.org/clinvar/361770 ^@ NM_004519.3(KCNQ3):c.*6632T>C http://identifiers.org/clinvar/357032 ^@ NM_020745.3(AARS2):c.*1359A>G http://identifiers.org/clinvar/357232 ^@ NM_012120.2(CD2AP):c.*2449C>A http://identifiers.org/clinvar/361920 ^@ NM_003235.4(TG):c.1900G>A (p.Gly634Arg) http://identifiers.org/clinvar/303101 ^@ NM_006918.4(SC5D):c.*3793_*3794delTT http://identifiers.org/clinvar/303251 ^@ NM_022370.3(ROBO3):c.2310C>T (p.Gly770=) http://identifiers.org/clinvar/303451 ^@ NM_016952.4(CDON):c.*1816C>T http://identifiers.org/clinvar/303501 ^@ NM_016952.4(CDON):c.2239G>A (p.Gly747Arg) http://identifiers.org/clinvar/303551 ^@ NM_017547.3(FOXRED1):c.*392G>A http://identifiers.org/clinvar/303601 ^@ NM_000890.3(KCNJ5):c.-295C>G http://identifiers.org/clinvar/367688 ^@ NM_000197.1(HSD17B3):c.-29A>G http://identifiers.org/clinvar/312099 ^@ NM_207361.5(FREM2):c.*5491G>A http://identifiers.org/clinvar/298573 ^@ NM_016169.3(SUFU):c.756+10G>C http://identifiers.org/clinvar/298673 ^@ NM_000494.3(COL17A1):c.*638G>A http://identifiers.org/clinvar/298823 ^@ NM_001134363.2(RBM20):c.*985G>C http://identifiers.org/clinvar/364159 ^@ NM_004612.3(TGFBR1):c.*3056C>A http://identifiers.org/clinvar/312799 ^@ NM_020366.3(RPGRIP1):c.3444C>G (p.Phe1148Leu) http://identifiers.org/clinvar/312849 ^@ NM_002471.3(MYH6):c.4829G>A (p.Arg1610His) http://identifiers.org/clinvar/312899 ^@ NM_000257.3(MYH7):c.4158C>T (p.Leu1386=) http://identifiers.org/clinvar/313838 ^@ NM_152443.2(RDH12):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/314288 ^@ NM_000428.2(LTBP2):c.3047C>T (p.Thr1016Ile) http://identifiers.org/clinvar/314738 ^@ NM_000153.3(GALC):c.*627A>G http://identifiers.org/clinvar/300312 ^@ NM_018055.4(NODAL):c.125C>T (p.Ala42Val) http://identifiers.org/clinvar/300362 ^@ NM_018344.5(SLC29A3):c.688G>A (p.Ala230Thr) http://identifiers.org/clinvar/300462 ^@ NM_022124.5(CDH23):c.8644T>C (p.Phe2882Leu) http://identifiers.org/clinvar/315438 ^@ NM_022807.4(SNRPN):c.-386C>T http://identifiers.org/clinvar/315538 ^@ NM_002420.5(TRPM1):c.42C>A (p.Asn14Lys) http://identifiers.org/clinvar/300712 ^@ NM_016065.3(MRPS16):c.*450delC http://identifiers.org/clinvar/300262 ^@ NM_000417.2(IL2RA):c.-211C>G http://identifiers.org/clinvar/315188 ^@ NM_139057.3(ADAMTS17):c.*1348dupA http://identifiers.org/clinvar/309805 ^@ NM_002206.2(ITGA7):c.-158G>C http://identifiers.org/clinvar/309855 ^@ NM_001029.3(RPS26):c.-31C>G http://identifiers.org/clinvar/310005 ^@ NM_000785.3(CYP27B1):c.-22C>G http://identifiers.org/clinvar/310205 ^@ NM_002076.3(GNS):c.1650T>C (p.His550=) http://identifiers.org/clinvar/311749 ^@ NM_015087.4(SPG20):c.*1456G>A http://identifiers.org/clinvar/311799 ^@ NM_000538.3(RFXAP):c.*1092A>G http://identifiers.org/clinvar/311849 ^@ NM_001127217.2(SMAD9):c.*2179delC http://identifiers.org/clinvar/311949 ^@ NM_207361.5(FREM2):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/311999 ^@ NM_207361.5(FREM2):c.5789C>T (p.Pro1930Leu) http://identifiers.org/clinvar/312149 ^@ NM_020751.2(COG6):c.1851A>C (p.Thr617=) http://identifiers.org/clinvar/312199 ^@ NM_014252.3(SLC25A15):c.*1345G>C http://identifiers.org/clinvar/312349 ^@ NM_000053.3(ATP7B):c.*1558T>A http://identifiers.org/clinvar/312399 ^@ NM_000053.3(ATP7B):c.618T>A (p.Phe206Leu) http://identifiers.org/clinvar/312549 ^@ NM_005708.4(GPC6):c.1272C>T (p.Asn424=) http://identifiers.org/clinvar/319580 ^@ NM_002968.2(SALL1):c.*922T>G http://identifiers.org/clinvar/338336 ^@ NM_015474.3(SAMHD1):c.*95T>C http://identifiers.org/clinvar/319830 ^@ NM_001043.3(SLC6A2):c.*777G>A http://identifiers.org/clinvar/312749 ^@ NM_000270.3(PNP):c.*1057T>C http://identifiers.org/clinvar/319880 ^@ NM_031885.3(BBS2):c.-177C>T http://identifiers.org/clinvar/320030 ^@ NM_001297.4(CNGB1):c.*1149G>A http://identifiers.org/clinvar/320080 ^@ NM_001297.4(CNGB1):c.2098C>T (p.Leu700Phe) http://identifiers.org/clinvar/338787 ^@ NM_020436.4(SALL4):c.131-9T>C http://identifiers.org/clinvar/338887 ^@ NM_002591.3(PCK1):c.954C>T (p.Asp318=) http://identifiers.org/clinvar/320380 ^@ NM_015386.2(COG4):c.388A>G (p.Ile130Val) http://identifiers.org/clinvar/339137 ^@ NM_207034.2(EDN3):c.*145C>A http://identifiers.org/clinvar/320630 ^@ NM_001130089.1(KARS):c.1551T>G (p.Phe517Leu) http://identifiers.org/clinvar/311899 ^@ NM_001127217.2(SMAD9):c.971C>T (p.Thr324Met) http://identifiers.org/clinvar/339287 ^@ NM_001853.3(COL9A3):c.1245C>A (p.Gly415=) http://identifiers.org/clinvar/320730 ^@ NM_012213.2(MLYCD):c.998G>T (p.Gly333Val) http://identifiers.org/clinvar/339337 ^@ NM_172107.3(KCNQ2):c.387+9C>T http://identifiers.org/clinvar/320780 ^@ NM_178452.5(DNAAF1):c.2061_2063dupTCC (p.Pro688_Val689insPro) http://identifiers.org/clinvar/312049 ^@ NM_207361.5(FREM2):c.*1121G>A http://identifiers.org/clinvar/339537 ^@ NM_015192.3(PLCB1):c.*1644T>C http://identifiers.org/clinvar/313938 ^@ NM_015346.3(ZFYVE26):c.-120G>T http://identifiers.org/clinvar/321330 ^@ NM_000135.2(FANCA):c.3935-6T>C http://identifiers.org/clinvar/313988 ^@ NM_000021.3(PSEN1):c.*2758T>G http://identifiers.org/clinvar/312299 ^@ NM_000321.2(RB1):c.*172G>A http://identifiers.org/clinvar/312499 ^@ NM_052910.2(SLITRK1):c.1538G>A (p.Gly513Glu) http://identifiers.org/clinvar/326811 ^@ NM_015559.2(SETBP1):c.*4010C>T http://identifiers.org/clinvar/367838 ^@ NM_001167.3(XIAP):c.*4884C>T http://identifiers.org/clinvar/367888 ^@ NM_004208.3(AIFM1):c.*49C>T http://identifiers.org/clinvar/368038 ^@ NM_001018113.2(FANCB):c.-230A>T http://identifiers.org/clinvar/368388 ^@ NM_007137.3(ZNF81):c.-146C>T http://identifiers.org/clinvar/368438 ^@ NM_007137.3(ZNF81):c.*4100G>A http://identifiers.org/clinvar/368488 ^@ NM_000084.4(CLCN5):c.*349G>A http://identifiers.org/clinvar/327561 ^@ NM_005570.3(LMAN1):c.*1168C>T http://identifiers.org/clinvar/368588 ^@ NM_006306.3(SMC1A):c.*41G>A http://identifiers.org/clinvar/327661 ^@ NM_133459.3(CCBE1):c.*1992A>T http://identifiers.org/clinvar/368688 ^@ NM_153252.4(BRWD3):c.*5790G>A http://identifiers.org/clinvar/327761 ^@ NM_173630.3(RTTN):c.725_727dupGAG (p.Gly242_Asp243insGly) http://identifiers.org/clinvar/328111 ^@ NM_000527.4(LDLR):c.*1858G>A http://identifiers.org/clinvar/338486 ^@ NM_000457.4(HNF4A):c.*2777delG http://identifiers.org/clinvar/338586 ^@ NM_001250.5(CD40):c.*677G>A http://identifiers.org/clinvar/338987 ^@ NM_004738.4(VAPB):c.*4206G>A http://identifiers.org/clinvar/339037 ^@ NM_001001433.2(STX16):c.-409G>A http://identifiers.org/clinvar/339087 ^@ NM_001001433.2(STX16):c.*1928C>T http://identifiers.org/clinvar/339187 ^@ NM_017671.4(FERMT1):c.*1076C>T http://identifiers.org/clinvar/339387 ^@ NM_025219.2(DNAJC5):c.*1304G>A http://identifiers.org/clinvar/339437 ^@ NM_025219.2(DNAJC5):c.*4057C>T http://identifiers.org/clinvar/339487 ^@ NM_012469.3(PRPF6):c.2688G>T (p.Glu896Asp) http://identifiers.org/clinvar/339687 ^@ NM_178817.3(MRAP):c.*108A>G http://identifiers.org/clinvar/339737 ^@ NM_000219.5(KCNE1):c.*1838T>A http://identifiers.org/clinvar/328161 ^@ NM_002743.3(PRKCSH):c.-336G>A http://identifiers.org/clinvar/338436 ^@ NM_000457.4(HNF4A):c.*242T>C http://identifiers.org/clinvar/338536 ^@ NM_000308.3(CTSA):c.1090G>A (p.Val364Met) http://identifiers.org/clinvar/338636 ^@ NM_030777.3(SLC2A10):c.*2365T>A http://identifiers.org/clinvar/338837 ^@ NM_000782.4(CYP24A1):c.114G>T (p.Pro38=) http://identifiers.org/clinvar/338937 ^@ NM_004738.4(VAPB):c.*375C>G http://identifiers.org/clinvar/339587 ^@ NM_000933.3(PLCB4):c.2961-6T>C http://identifiers.org/clinvar/385939 ^@ NM_000051.3(ATM):c.-27G>T http://identifiers.org/clinvar/386589 ^@ NM_000051.3(ATM):c.97C>T (p.Leu33=) http://identifiers.org/clinvar/387628 ^@ NM_004092.3(ECHS1):c.-22C>T http://identifiers.org/clinvar/382747 ^@ NM_005609.3(PYGM):c.1692C>T (p.Phe564=) http://identifiers.org/clinvar/380252 ^@ NM_001204824.1(KCNQ3):c.118-15T>C http://identifiers.org/clinvar/386339 ^@ NM_004281.3(BAG3):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/392756 ^@ NM_018941.3(CLN8):c.88G>A (p.Ala30Thr) http://identifiers.org/clinvar/383047 ^@ NM_001080449.2(DNA2):c.1057+16T>C http://identifiers.org/clinvar/385439 ^@ NM_004373.3(COX6A1):c.249G>A (p.Pro83=) http://identifiers.org/clinvar/386289 ^@ NM_015214.2(DDHD2):c.1168C>T (p.Leu390=) http://identifiers.org/clinvar/383799 ^@ NM_000051.3(ATM):c.3577-15T>C http://identifiers.org/clinvar/391117 ^@ NM_004572.3(PKP2):c.1707C>T (p.Gly569=) http://identifiers.org/clinvar/389028 ^@ NM_024649.4(BBS1):c.569A>T (p.Lys190Met) http://identifiers.org/clinvar/388128 ^@ NM_005430.3(WNT1):c.521T>C (p.Ile174Thr) http://identifiers.org/clinvar/393006 ^@ NM_000218.2(KCNQ1):c.797T>G (p.Leu266Arg) http://identifiers.org/clinvar/390567 ^@ NM_000280.4(PAX6):c.917-3C>G http://identifiers.org/clinvar/388378 ^@ NM_000920.3(PC):c.1023-14C>A http://identifiers.org/clinvar/382947 ^@ NM_000059.3(BRCA2):c.8331+16C>T http://identifiers.org/clinvar/380503 ^@ NM_005050.3(ABCD4):c.1302G>A (p.Leu434=) http://identifiers.org/clinvar/386089 ^@ NM_000075.3(CDK4):c.306A>C (p.Thr102=) http://identifiers.org/clinvar/382346 ^@ NM_000059.3(BRCA2):c.648A>G (p.Ala216=) http://identifiers.org/clinvar/390717 ^@ NM_001256024.1(ARHGAP22):c.1759G>T (p.Asp587Tyr) http://identifiers.org/clinvar/388428 ^@ NM_000282.3(PCCA):c.1284+16G>A http://identifiers.org/clinvar/385739 ^@ NM_002755.3(MAP2K1):c.80+14G>A http://identifiers.org/clinvar/393206 ^@ NM_174934.3(SCN4B):c.196T>C (p.Phe66Leu) http://identifiers.org/clinvar/392806 ^@ NM_000138.4(FBN1):c.8052-3C>G http://identifiers.org/clinvar/388628 ^@ NM_000548.4(TSC2):c.3599G>A (p.Arg1200Gln) http://identifiers.org/clinvar/381444 ^@ NM_001085372.2(UQCC3):c.121-11C>T http://identifiers.org/clinvar/381394 ^@ NM_002496.3(NDUFS8):c.300G>A (p.Ala100=) http://identifiers.org/clinvar/386239 ^@ NM_198525.2(KIF7):c.759G>T (p.Leu253=) http://identifiers.org/clinvar/390767 ^@ NM_012463.3(ATP6V0A2):c.422G>T (p.Arg141Leu) http://identifiers.org/clinvar/390217 ^@ NM_020778.4(ALPK3):c.173C>T (p.Pro58Leu) http://identifiers.org/clinvar/47454 ^@ NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) http://identifiers.org/clinvar/47504 ^@ NM_133378.4(TTN):c.83367T>G (p.Thr27789=) http://identifiers.org/clinvar/47554 ^@ NM_133378.4(TTN):c.87555C>T (p.Leu29185=) http://identifiers.org/clinvar/47604 ^@ NM_133378.4(TTN):c.90891A>G (p.Glu30297=) http://identifiers.org/clinvar/47654 ^@ NM_133378.4(TTN):c.95033G>A (p.Arg31678His) http://identifiers.org/clinvar/47704 ^@ NM_133378.4(TTN):c.98571G>C (p.Gly32857=) http://identifiers.org/clinvar/47754 ^@ NM_133379.4(TTN):c.13374T>C (p.His4458=) http://identifiers.org/clinvar/47804 ^@ NM_001256850.1(TTN):c.10361-3829T>C http://identifiers.org/clinvar/47854 ^@ NM_138691.2(TMC1):c.1019T>C (p.Met340Thr) http://identifiers.org/clinvar/47904 ^@ NM_144573.3(NEXN):c.299-3T>C http://identifiers.org/clinvar/47954 ^@ NM_144672.3(OTOA):c.44T>A (p.Phe15Tyr) http://identifiers.org/clinvar/69 ^@ NM_000374.4(UROD):c.874C>G (p.Arg292Gly) http://identifiers.org/clinvar/83 ^@ NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) http://identifiers.org/clinvar/155 ^@ NM_000274.3(OAT):c.812G>A (p.Arg271Lys) http://identifiers.org/clinvar/201 ^@ NM_024598.3(USB1):c.504-2A>C http://identifiers.org/clinvar/242 ^@ NM_000398.6(CYB5R3):c.817_819delATG (p.Met273del) http://identifiers.org/clinvar/385 ^@ NM_000308.3(CTSA):c.1369G>A (p.Gly457Ser) http://identifiers.org/clinvar/449 ^@ NM_133459.3(CCBE1):c.472C>T (p.Arg158Cys) http://identifiers.org/clinvar/722 ^@ NM_000015.2(NAT2):c.590G>A (p.Arg197Gln) http://identifiers.org/clinvar/1096 ^@ NM_000642.2(AGL):c.2039G>A (p.Trp680Ter) http://identifiers.org/clinvar/1459 ^@ HMBS, 1-BP DEL, 174C http://identifiers.org/clinvar/1503 ^@ NM_004035.6(ACOX1):c.372_389del18 (p.Phe124_Asn129del) http://identifiers.org/clinvar/1595 ^@ NDUFAF2, 1-BP DEL, 103A http://identifiers.org/clinvar/1876 ^@ NM_020376.3(PNPLA2):c.865C>T (p.Gln289Ter) http://identifiers.org/clinvar/1920 ^@ NM_022132.4(MCCC2):c.295G>C (p.Glu99Gln) http://identifiers.org/clinvar/1966 ^@ NM_000022.3(ADA):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/2055 ^@ NM_152443.2(RDH12):c.295C>A (p.Leu99Ile) http://identifiers.org/clinvar/2100 ^@ NM_001040716.1(PC):c.467G>A (p.Arg156Gln) http://identifiers.org/clinvar/2146 ^@ NM_133433.3(NIPBL):c.5167C>T (p.Arg1723Ter) http://identifiers.org/clinvar/2193 ^@ NM_178857.5(RP1L1):c.133C>T (p.Arg45Trp) http://identifiers.org/clinvar/2238 ^@ NM_000551.3(VHL):c.491A>G (p.Gln164Arg) http://identifiers.org/clinvar/2283 ^@ NM_153026.2(PRICKLE1):c.311G>A (p.Arg104Gln) http://identifiers.org/clinvar/2329 ^@ NM_033071.3(SYNE1):c.22918C>T (p.Gln7640Ter) http://identifiers.org/clinvar/2374 ^@ LRRC8A, 1-BP INS, 2681T, TRANSLOCATION 20 http://identifiers.org/clinvar/2465 ^@ NM_000026.3(ADSL):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/2510 ^@ NM_000346.3(SOX9):c.1320C>G (p.Tyr440Ter) http://identifiers.org/clinvar/2559 ^@ ALG8, 1-BP INS, 396A http://identifiers.org/clinvar/2604 ^@ NM_058172.5(ANTXR2):c.1073dupC (p.Ala359Cysfs) http://identifiers.org/clinvar/2650 ^@ NM_152281.2(GORAB):c.442G>T (p.Glu148Ter) http://identifiers.org/clinvar/2832 ^@ NM_000019.3(ACAT1):c.1138G>A (p.Ala380Thr) http://identifiers.org/clinvar/2878 ^@ NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) http://identifiers.org/clinvar/2923 ^@ NM_001033503.2(SAR1B):c.409G>A (p.Asp137Asn) http://identifiers.org/clinvar/2969 ^@ NM_000271.4(NPC1):c.2974G>C (p.Gly992Arg) http://identifiers.org/clinvar/3013 ^@ NM_133497.3(KCNV2):c.1016_1024delACCTGGTGG (p.Asp339_Val341del) http://identifiers.org/clinvar/3110 ^@ NM_133259.3(LRPPRC):c.1061C>T (p.Ala354Val) http://identifiers.org/clinvar/10136 ^@ F8, EX5DEL http://identifiers.org/clinvar/10181 ^@ NM_000132.3(F8):c.687_688delAG (p.Glu230Asnfs) http://identifiers.org/clinvar/10226 ^@ NM_000132.3(F8):c.1660A>G (p.Ser554Gly) http://identifiers.org/clinvar/10271 ^@ NM_000132.3(F8):c.5323T>G (p.Leu1775Val) http://identifiers.org/clinvar/10316 ^@ NM_000132.3(F8):c.6515C>A (p.Pro2172Gln) http://identifiers.org/clinvar/10362 ^@ NM_000402.4(G6PD):c.944G>A (p.Arg315His) http://identifiers.org/clinvar/10411 ^@ G6PD NARA http://identifiers.org/clinvar/10460 ^@ COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION http://identifiers.org/clinvar/10506 ^@ NM_020061.5(OPN1LW):c.1013G>A (p.Gly338Glu) http://identifiers.org/clinvar/10552 ^@ NM_000351.5(STS):c.1114T>A (p.Trp372Arg) http://identifiers.org/clinvar/10598 ^@ F9, TRP215TER http://identifiers.org/clinvar/10642 ^@ NM_000133.3(F9):c.1187G>C (p.Cys396Ser) http://identifiers.org/clinvar/10689 ^@ NM_000266.3(NDP):c.38T>G (p.Leu13Arg) http://identifiers.org/clinvar/10733 ^@ NM_000169.2(GLA):c.679C>T (p.Arg227Ter) http://identifiers.org/clinvar/10779 ^@ NM_003916.4(AP1S2):c.180-5_180-2delTACA http://identifiers.org/clinvar/10823 ^@ PHEX, IVS4, T-C, +6 http://identifiers.org/clinvar/10869 ^@ FANCB, 1-BP INS, 811T http://identifiers.org/clinvar/10914 ^@ BCOR, 1-BP DEL, 3881A http://identifiers.org/clinvar/11424 ^@ NM_022567.2(NYX):c.281G>C (p.Arg94Pro) http://identifiers.org/clinvar/11474 ^@ NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) http://identifiers.org/clinvar/11526 ^@ NM_000047.2(ARSE):c.733G>C (p.Gly245Arg) http://identifiers.org/clinvar/11576 ^@ NM_004299.4(ABCB7):c.1234G>C (p.Val412Leu) http://identifiers.org/clinvar/11626 ^@ NM_001493.2(GDI1):c.275T>C (p.Leu92Pro) http://identifiers.org/clinvar/11779 ^@ NG_011506.1:g.15883_17827del1945insTG http://identifiers.org/clinvar/11829 ^@ NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/11879 ^@ PRSS1, 3-BP DEL http://identifiers.org/clinvar/11929 ^@ NM_000431.3(MVK):c.1129G>A (p.Val377Ile) http://identifiers.org/clinvar/11979 ^@ NM_000481.3(AMT):c.959G>A (p.Arg320His) http://identifiers.org/clinvar/12031 ^@ NM_000221.2(KHK):c.118G>A (p.Gly40Arg) http://identifiers.org/clinvar/12081 ^@ F7, -61T-G http://identifiers.org/clinvar/12131 ^@ NM_000063.5(C2):c.1360+62G>T http://identifiers.org/clinvar/12834 ^@ SPTB, 1-BP DEL, FS2075TER http://identifiers.org/clinvar/12885 ^@ NM_006920.4(SCN1A):c.4024G>C (p.Val1342Leu) http://identifiers.org/clinvar/12935 ^@ NM_001045.5(SLC6A4):c.1273A>G (p.Ile425Val) http://identifiers.org/clinvar/12986 ^@ NM_000540.2(RYR1):c.14587_14607del21 (p.Phe4863_Asp4869del) http://identifiers.org/clinvar/13036 ^@ NM_000539.3(RHO):c.745G>T (p.Glu249Ter) http://identifiers.org/clinvar/13088 ^@ RB1, GLN675TER http://identifiers.org/clinvar/13138 ^@ NM_000536.3(RAG2):c.1352G>C (p.Gly451Ala) http://identifiers.org/clinvar/13189 ^@ NM_000925.3(PDHB):c.1030C>T (p.Pro344Ser) http://identifiers.org/clinvar/13240 ^@ PRKCSH, 2-BP DEL, IVS16GT, +1 http://identifiers.org/clinvar/13291 ^@ NM_000141.4(FGFR2):c.940-1G>A http://identifiers.org/clinvar/13342 ^@ NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) http://identifiers.org/clinvar/13395 ^@ NM_000311.4(PRNP):c.305C>T (p.Pro102Leu) http://identifiers.org/clinvar/13447 ^@ NM_000371.3(TTR):c.241G>A (p.Glu81Lys) http://identifiers.org/clinvar/13498 ^@ NM_002693.2(POLG):c.8G>C (p.Arg3Pro) http://identifiers.org/clinvar/13548 ^@ NM_006206.4(PDGFRA):c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del) http://identifiers.org/clinvar/36877 ^@ NM_003276.2(TMPO):c.950C>G (p.Thr317Ser) http://identifiers.org/clinvar/36945 ^@ NM_198253.2(TERT):c.164T>A (p.Leu55Gln) http://identifiers.org/clinvar/37040 ^@ NM_005125.1(CCS):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/37108 ^@ NM_152296.4(ATP1A3):c.2443G>A (p.Glu815Lys) http://identifiers.org/clinvar/37240 ^@ NM_030787.3(CFHR5):c.583T>A (p.Ser195Thr) http://identifiers.org/clinvar/37565 ^@ NM_007294.3(BRCA1):c.4096+1G>A http://identifiers.org/clinvar/37616 ^@ NM_007294.3(BRCA1):c.4964_4982del19 (p.Ser1655Tyrfs) http://identifiers.org/clinvar/37672 ^@ NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) http://identifiers.org/clinvar/37726 ^@ NM_000059.3(BRCA2):c.1156delG (p.Glu386Lysfs) http://identifiers.org/clinvar/37777 ^@ NM_000059.3(BRCA2):c.2231C>G (p.Ser744Ter) http://identifiers.org/clinvar/37830 ^@ NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) http://identifiers.org/clinvar/37883 ^@ NM_000059.3(BRCA2):c.4146_4148delAGA (p.Glu1382del) http://identifiers.org/clinvar/37936 ^@ NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) http://identifiers.org/clinvar/37989 ^@ NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) http://identifiers.org/clinvar/38041 ^@ NM_000059.3(BRCA2):c.6373dupA (p.Thr2125Asnfs) http://identifiers.org/clinvar/38094 ^@ NM_000059.3(BRCA2):c.7414_7415delAA (p.Lys2472Valfs) http://identifiers.org/clinvar/38144 ^@ NM_000059.3(BRCA2):c.8227G>A (p.Gly2743Ser) http://identifiers.org/clinvar/38194 ^@ NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) http://identifiers.org/clinvar/38244 ^@ NM_000059.3(BRCA2):c.9502-12T>C http://identifiers.org/clinvar/38306 ^@ NM_000168.5(GLI3):c.2110C>T (p.Gln704Ter) http://identifiers.org/clinvar/38361 ^@ NM_002769.4(PRSS1):c.116T>C (p.Val39Ala) http://identifiers.org/clinvar/38418 ^@ NM_024312.4(GNPTAB):c.2188delTinsAAA (p.Leu730Lysfs) http://identifiers.org/clinvar/38971 ^@ NM_004614.4:c.-270+2561delins;7287-7335inv http://identifiers.org/clinvar/39022 ^@ NM_024312.4(GNPTAB):c.1123C>T (p.Arg375Ter) http://identifiers.org/clinvar/39072 ^@ NM_024312.4(GNPTAB):c.3428dupA (p.Asn1143Lysfs) http://identifiers.org/clinvar/39129 ^@ NM_198578.3(LRRK2):c.1088A>G (p.Asn363Ser) http://identifiers.org/clinvar/39179 ^@ NM_198578.3(LRRK2):c.4229C>T (p.Thr1410Met) http://identifiers.org/clinvar/40511 ^@ NM_002834.4(PTPN11):c.333-3T>C http://identifiers.org/clinvar/40569 ^@ NM_002834.4(PTPN11):c.1600-95C>T http://identifiers.org/clinvar/40631 ^@ NM_002880.3(RAF1):c.*266C>T http://identifiers.org/clinvar/40714 ^@ NM_005633.3(SOS1):c.2997T>C (p.Asn999=) http://identifiers.org/clinvar/40808 ^@ NM_030662.3(MAP2K2):c.580+6G>A http://identifiers.org/clinvar/40994 ^@ NM_000095.2(COMP):c.1754C>G (p.Thr585Arg) http://identifiers.org/clinvar/41054 ^@ NM_003611.2:c.1056C>G http://identifiers.org/clinvar/41109 ^@ NM_003611.2(OFD1):c.312+2_312+8delTAAAGTC http://identifiers.org/clinvar/41163 ^@ NM_003977.3(AIP):c.138_161del24 (p.Gly47_Arg54del) http://identifiers.org/clinvar/41216 ^@ NM_003977.3(AIP):c.965C>T (p.Ala322Val) http://identifiers.org/clinvar/51480 ^@ NM_000059.3(BRCA2):c.3515C>G (p.Ser1172Trp) http://identifiers.org/clinvar/51531 ^@ NM_000059.3(BRCA2):c.3824T>C (p.Ile1275Thr) http://identifiers.org/clinvar/51583 ^@ NM_000059.3(BRCA2):c.4023A>C (p.Ser1341=) http://identifiers.org/clinvar/51635 ^@ NM_000059.3(BRCA2):c.4352A>G (p.Asp1451Gly) http://identifiers.org/clinvar/51686 ^@ NM_000059.3(BRCA2):c.4638dupT (p.Asp1547Terfs) http://identifiers.org/clinvar/51737 ^@ NM_000059.3(BRCA2):c.4898T>A (p.Ile1633Asn) http://identifiers.org/clinvar/51789 ^@ NM_000059.3(BRCA2):c.516+2T>A http://identifiers.org/clinvar/51840 ^@ NM_000059.3(BRCA2):c.5342A>G (p.Asp1781Gly) http://identifiers.org/clinvar/51893 ^@ NM_000059.3(BRCA2):c.5624delA (p.Lys1875Argfs) http://identifiers.org/clinvar/51945 ^@ NM_000059.3(BRCA2):c.5823delA (p.Val1942Phefs) http://identifiers.org/clinvar/51997 ^@ NM_000059.3(BRCA2):c.6060_6063delACAT (p.Glu2020Aspfs) http://identifiers.org/clinvar/52048 ^@ NM_000059.3(BRCA2):c.6293C>T (p.Ser2098Phe) http://identifiers.org/clinvar/52102 ^@ NM_000059.3(BRCA2):c.6446_6450delTTAAA (p.Ile2149Serfs) http://identifiers.org/clinvar/52153 ^@ NM_000059.3(BRCA2):c.6676_6677delGA (p.Glu2226Serfs) http://identifiers.org/clinvar/52203 ^@ NM_000059.3(BRCA2):c.6833_6837delTCTTA (p.Ile2278Serfs) http://identifiers.org/clinvar/52254 ^@ NM_000059.3(BRCA2):c.7040C>A (p.Pro2347Gln) http://identifiers.org/clinvar/52305 ^@ NM_000059.3(BRCA2):c.7303C>T (p.Gln2435Ter) http://identifiers.org/clinvar/52355 ^@ NM_000059.3(BRCA2):c.7561A>G (p.Ile2521Val) http://identifiers.org/clinvar/52406 ^@ NM_000059.3(BRCA2):c.7766C>A (p.Pro2589His) http://identifiers.org/clinvar/52456 ^@ NM_000059.3(BRCA2):c.7977-2delA http://identifiers.org/clinvar/52506 ^@ NM_000059.3(BRCA2):c.8103T>G (p.Ser2701=) http://identifiers.org/clinvar/52557 ^@ NM_000059.3(BRCA2):c.8343delC (p.Asn2781Lysfs) http://identifiers.org/clinvar/52607 ^@ NM_000059.3(BRCA2):c.8504C>A (p.Ser2835Ter) http://identifiers.org/clinvar/52659 ^@ NM_000059.3(BRCA2):c.86_87delTT (p.Leu29Glnfs) http://identifiers.org/clinvar/52709 ^@ NM_000059.3(BRCA2):c.8953+1G>A http://identifiers.org/clinvar/52760 ^@ NM_000059.3(BRCA2):c.9118G>A (p.Val3040Ile) http://identifiers.org/clinvar/53563 ^@ NM_000492.3(CFTR):c.2763_2764dupAG (p.Val922Glufs) http://identifiers.org/clinvar/53613 ^@ NM_000492.3(CFTR):c.2989-1G>A http://identifiers.org/clinvar/53665 ^@ NM_000492.3(CFTR):c.314T>A (p.Ile105Asn) http://identifiers.org/clinvar/53716 ^@ NM_000492.3(CFTR):c.3314T>G (p.Met1105Arg) http://identifiers.org/clinvar/53767 ^@ NM_000492.3(CFTR):c.3530delA (p.Lys1177Serfs) http://identifiers.org/clinvar/54074 ^@ NM_000492.3(CFTR):c.868C>T (p.Gln290Ter) http://identifiers.org/clinvar/54124 ^@ NM_007294.3(BRCA1):c.1088delA (p.Asn363Ilefs) http://identifiers.org/clinvar/54174 ^@ NM_007294.3(BRCA1):c.1250A>G (p.Asn417Ser) http://identifiers.org/clinvar/54224 ^@ NM_007294.3(BRCA1):c.1374delC (p.Asp458Glufs) http://identifiers.org/clinvar/54275 ^@ NM_007294.3(BRCA1):c.1508delA (p.Lys503Serfs) http://identifiers.org/clinvar/54325 ^@ NM_007294.3(BRCA1):c.168A>T (p.Lys56Asn) http://identifiers.org/clinvar/54376 ^@ NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) http://identifiers.org/clinvar/54426 ^@ NM_007294.3(BRCA1):c.1984C>T (p.His662Tyr) http://identifiers.org/clinvar/54476 ^@ NM_007294.3(BRCA1):c.2155A>T (p.Lys719Ter) http://identifiers.org/clinvar/54526 ^@ NM_007294.3(BRCA1):c.2308delT (p.Ser770Hisfs) http://identifiers.org/clinvar/54576 ^@ NM_007294.3(BRCA1):c.2474A>T (p.Asp825Val) http://identifiers.org/clinvar/54626 ^@ NM_007294.3(BRCA1):c.2643delA (p.Glu881Aspfs) http://identifiers.org/clinvar/54676 ^@ NM_007294.3(BRCA1):c.2765C>G (p.Thr922Arg) http://identifiers.org/clinvar/54726 ^@ NM_007294.3(BRCA1):c.2934delT (p.Arg979Valfs) http://identifiers.org/clinvar/54776 ^@ NM_007294.3(BRCA1):c.3143G>A (p.Gly1048Asp) http://identifiers.org/clinvar/54826 ^@ NM_007294.3(BRCA1):c.329_330delAG (p.Lys110Argfs) http://identifiers.org/clinvar/54876 ^@ NM_007294.3(BRCA1):c.3418_3420delAGT (p.Ser1140del) http://identifiers.org/clinvar/55131 ^@ NM_007294.3(BRCA1):c.4185G>A (p.Gln1395=) http://identifiers.org/clinvar/55181 ^@ NM_007294.3(BRCA1):c.4357+6T>G http://identifiers.org/clinvar/55232 ^@ NM_007294.3(BRCA1):c.457_458delAG (p.Ser153Cysfs) http://identifiers.org/clinvar/55282 ^@ NM_007294.3(BRCA1):c.4764delT (p.Arg1589Valfs) http://identifiers.org/clinvar/55333 ^@ NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) http://identifiers.org/clinvar/56247 ^@ NM_001042432.1(CLN3):c.1056+3A>C http://identifiers.org/clinvar/56297 ^@ NM_001080522.2(CC2D2A):c.1339delG (p.Ala447Argfs) http://identifiers.org/clinvar/56349 ^@ NM_001126105.2(SLC7A7):c.1093A>T (p.Asn365Tyr) http://identifiers.org/clinvar/56401 ^@ NM_004260.3(RECQL4):c.1885_1888delCGGG (p.Arg629Serfs) http://identifiers.org/clinvar/56451 ^@ NM_004646.3(NPHS1):c.1801G>C (p.Gly601Arg) http://identifiers.org/clinvar/56501 ^@ NM_004646.3(NPHS1):c.3482G>T (p.Gly1161Val) http://identifiers.org/clinvar/56552 ^@ NM_012434.4(SLC17A5):c.1138_1139delGT (p.Val380Serfs) http://identifiers.org/clinvar/56606 ^@ NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) http://identifiers.org/clinvar/56660 ^@ NM_017890.4(VPS13B):c.3666+2T>C http://identifiers.org/clinvar/101418 ^@ NM_000090.3(COL3A1):c.2095G>C (p.Gly699Arg) http://identifiers.org/clinvar/101468 ^@ NM_000090.3(COL3A1):c.1456-13_1499del (p.Gly486_Lys503del) http://identifiers.org/clinvar/101529 ^@ NM_001013703.3(EIF2AK4):c.3448C>T (p.Arg1150Ter) http://identifiers.org/clinvar/102481 ^@ NM_000277.1(PAH):c.1031G>A (p.Gly344Asp) http://identifiers.org/clinvar/102537 ^@ NM_000277.1(PAH):c.1156T>G (p.Tyr386Asp) http://identifiers.org/clinvar/102590 ^@ NM_000277.1(PAH):c.1315+6T>A http://identifiers.org/clinvar/102644 ^@ NM_000277.1(PAH):c.281T>G (p.Ile94Ser) http://identifiers.org/clinvar/102696 ^@ NM_000277.1(PAH):c.47_48delCT (p.Ser16Terfs) http://identifiers.org/clinvar/102746 ^@ NM_000277.1(PAH):c.592_613del22 (p.Tyr198Serfs) http://identifiers.org/clinvar/102797 ^@ NM_000277.1(PAH):c.715G>A (p.Gly239Ser) http://identifiers.org/clinvar/102847 ^@ NM_000277.1(PAH):c.810A>T (p.Arg270Ser) http://identifiers.org/clinvar/102899 ^@ NM_000277.1(PAH):c.929C>T (p.Ser310Phe) http://identifiers.org/clinvar/102957 ^@ NM_000246.3(CIITA):c.-168G>A http://identifiers.org/clinvar/103007 ^@ NM_000246.3(CIITA):c.359-23G>T http://identifiers.org/clinvar/103057 ^@ NM_001174081.2(NLRP2):c.2202-222A>G http://identifiers.org/clinvar/103107 ^@ NM_006092.2(NOD1):c.254T>A (p.Phe85Tyr) http://identifiers.org/clinvar/103157 ^@ NM_032206.4(NLRC5):c.2075+113A>G http://identifiers.org/clinvar/103207 ^@ NM_032206.4(NLRC5):c.5251A>G (p.Lys1751Glu) http://identifiers.org/clinvar/103257 ^@ NM_138329.2(NLRP6):c.795G>A (p.Pro265=) http://identifiers.org/clinvar/103307 ^@ NM_176810.2(NLRP13):c.2112-208G>A http://identifiers.org/clinvar/103357 ^@ NM_178844.3(NLRC3):c.1782G>A (p.Arg594=) http://identifiers.org/clinvar/111231 ^@ NM_005534.3(IFNGR2):c.1008G>A (p.Thr336=) http://identifiers.org/clinvar/120091 ^@ NM_001171174.1(CX3CR1):c.881T>C (p.Phe294Ser) http://identifiers.org/clinvar/120243 ^@ NM_017637.5(BNC2):c.84A>T (p.Ala28=) http://identifiers.org/clinvar/120293 ^@ NM_000277.1(PAH):c.912+3A>C http://identifiers.org/clinvar/125450 ^@ NM_020207.4(ERCC6L2):c.1236_1239delAACA (p.Thr413Cysfs) http://identifiers.org/clinvar/127294 ^@ NM_000038.5(APC):c.4336G>A (p.Ala1446Thr) http://identifiers.org/clinvar/127344 ^@ NM_000051.3(ATM):c.202A>G (p.Ile68Val) http://identifiers.org/clinvar/127394 ^@ NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) http://identifiers.org/clinvar/127444 ^@ NM_000051.3(ATM):c.7450G>A (p.Val2484Ile) http://identifiers.org/clinvar/127495 ^@ NM_000057.3(BLM):c.3117A>G (p.Ile1039Met) http://identifiers.org/clinvar/127545 ^@ NM_000136.2(FANCC):c.708G>A (p.Met236Ile) http://identifiers.org/clinvar/127595 ^@ NM_000179.2(MSH6):c.3972G>C (p.Glu1324Asp) http://identifiers.org/clinvar/127646 ^@ NM_000251.2(MSH2):c.403C>T (p.Leu135Phe) http://identifiers.org/clinvar/127705 ^@ NM_000455.4(STK11):c.842C>A (p.Pro281Gln) http://identifiers.org/clinvar/127755 ^@ NM_000535.6(PMS2):c.1233A>T (p.Glu411Asp) http://identifiers.org/clinvar/127806 ^@ NM_000546.5(TP53):c.28G>A (p.Val10Ile) http://identifiers.org/clinvar/161861 ^@ NM_213589.2(RAPH1):c.1123G>T (p.Glu375Ter) http://identifiers.org/clinvar/161761 ^@ NM_022481.5(ARAP3):c.2806C>T (p.Arg936Trp) http://identifiers.org/clinvar/161661 ^@ NM_012301.3(MAGI2):c.1340A>T (p.Asp447Val) http://identifiers.org/clinvar/161711 ^@ NM_017864.3(INTS8):c.165delG (p.Glu56Asnfs) http://identifiers.org/clinvar/161611 ^@ NM_003306.1(TRPC4):c.523C>T (p.Arg175Cys) http://identifiers.org/clinvar/161561 ^@ NM_001193306.1(FPR1):c.772C>T (p.Gln258Ter) http://identifiers.org/clinvar/161811 ^@ NM_145812.2(AIFM1):c.485C>T (p.Pro162Leu) http://identifiers.org/clinvar/162040 ^@ NM_001844.4(COL2A1):c.3357_3358insCT (p.Glu1120Leufs) http://identifiers.org/clinvar/162096 ^@ NM_002972.3(SBF1):c.1327G>A (p.Asp443Asn) http://identifiers.org/clinvar/162160 ^@ NM_001396.3(DYRK1A):c.1763C>A (p.Thr588Asn) http://identifiers.org/clinvar/162369 ^@ NC_012920.1:m.5631G>A http://identifiers.org/clinvar/162434 ^@ NM_153818.1(PEX10):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/162505 ^@ NM_004415.3(DSP):c.4180C>T (p.Gln1394Ter) http://identifiers.org/clinvar/162585 ^@ NM_004737.5(LARGE1):c.2255C>G (p.Ala752Gly) http://identifiers.org/clinvar/179990 ^@ NM_133378.4(TTN):c.48592G>C (p.Ala16198Pro) http://identifiers.org/clinvar/179190 ^@ NM_133378.4(TTN):c.92343A>C (p.Thr30781=) http://identifiers.org/clinvar/179890 ^@ NM_133378.4(TTN):c.88160A>T (p.Gln29387Leu) http://identifiers.org/clinvar/179040 ^@ NM_001256850.1(TTN):c.82188G>A (p.Glu27396=) http://identifiers.org/clinvar/179940 ^@ NM_133378.4(TTN):c.78673A>G (p.Thr26225Ala) http://identifiers.org/clinvar/179290 ^@ NM_133378.4(TTN):c.44702-6T>A http://identifiers.org/clinvar/179240 ^@ NM_133378.4(TTN):c.42545-15T>G http://identifiers.org/clinvar/180090 ^@ NM_133378.4(TTN):c.30560-14T>C http://identifiers.org/clinvar/179640 ^@ NM_133378.4(TTN):c.15078G>A (p.Gln5026=) http://identifiers.org/clinvar/179090 ^@ NM_194248.2(OTOF):c.4227+5G>C http://identifiers.org/clinvar/163141 ^@ NM_001369.2(DNAH5):c.7468_7488del21 (p.Trp2490_Leu2496del) http://identifiers.org/clinvar/179540 ^@ NM_194248.2(OTOF):c.5868C>T (p.Tyr1956=) http://identifiers.org/clinvar/179740 ^@ NM_198056.2(SCN5A):c.4698C>G (p.Leu1566=) http://identifiers.org/clinvar/179840 ^@ NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?)) http://identifiers.org/clinvar/177880 ^@ NM_002880.3(RAF1):c.-361G>T http://identifiers.org/clinvar/179140 ^@ NM_004415.3(DSP):c.1397T>C (p.Leu466Pro) http://identifiers.org/clinvar/179690 ^@ NM_000441.1(SLC26A4):c.2029C>T (p.Arg677Trp) http://identifiers.org/clinvar/198427 ^@ NM_000512.4(GALNS):c.665G>A (p.Arg222Gln) http://identifiers.org/clinvar/198477 ^@ NM_002109.5(HARS):c.694C>T (p.Arg232Cys) http://identifiers.org/clinvar/198531 ^@ NM_001128227.2(GNE):c.1210T>G (p.Phe404Val) http://identifiers.org/clinvar/198582 ^@ NM_020754.3(ARHGAP31):c.820C>T (p.Pro274Ser) http://identifiers.org/clinvar/198635 ^@ NM_201590.2(CACNB2):c.711G>A (p.Leu237=) http://identifiers.org/clinvar/198685 ^@ NM_000019.3(ACAT1):c.766T>A (p.Tyr256Asn) http://identifiers.org/clinvar/198740 ^@ NM_000532.4(PCCB):c.815G>A (p.Arg272Gln) http://identifiers.org/clinvar/198792 ^@ NM_004369.3(COL6A3):c.3138G>T (p.Leu1046=) http://identifiers.org/clinvar/198845 ^@ NM_006642.3(SDCCAG8):c.925G>A (p.Val309Ile) http://identifiers.org/clinvar/198899 ^@ NM_021150.3(GRIP1):c.817T>C (p.Cys273Arg) http://identifiers.org/clinvar/198952 ^@ NM_001267550.2(TTN):c.24736G>A (p.Glu8246Lys) http://identifiers.org/clinvar/199004 ^@ NM_000275.2(OCA2):c.1015G>T (p.Ala339Ser) http://identifiers.org/clinvar/199054 ^@ NM_001080522.2(CC2D2A):c.644G>T (p.Arg215Ile) http://identifiers.org/clinvar/199214 ^@ NM_000540.2(RYR1):c.12625-1G>T http://identifiers.org/clinvar/199435 ^@ NM_005045.3(RELN):c.9526G>A (p.Glu3176Lys) http://identifiers.org/clinvar/201197 ^@ NM_001035.2(RYR2):c.689G>A (p.Gly230Asp) http://identifiers.org/clinvar/201253 ^@ NM_001035.2(RYR2):c.4990G>T (p.Val1664Phe) http://identifiers.org/clinvar/201307 ^@ NM_001035.2(RYR2):c.11024C>G (p.Ala3675Gly) http://identifiers.org/clinvar/201363 ^@ NM_001035.2(RYR2):c.14845T>C (p.Trp4949Arg) http://identifiers.org/clinvar/201129 ^@ NM_174936.3(PCSK9):c.1486C>T (p.Arg496Trp) http://identifiers.org/clinvar/199714 ^@ NM_000090.3(COL3A1):c.842C>A (p.Pro281His) http://identifiers.org/clinvar/201533 ^@ NM_198056.2(SCN5A):c.5231G>T (p.Ser1744Ile) http://identifiers.org/clinvar/201590 ^@ NM_198056.2(SCN5A):c.4299G>C (p.Gly1433=) http://identifiers.org/clinvar/201420 ^@ NM_198056.2(SCN5A):c.3048G>A (p.Thr1016=) http://identifiers.org/clinvar/201474 ^@ NM_198056.2(SCN5A):c.2431C>T (p.Arg811Cys) http://identifiers.org/clinvar/199879 ^@ NM_004415.3(DSP):c.3701A>G (p.Asn1234Ser) http://identifiers.org/clinvar/199936 ^@ NM_004415.3(DSP):c.5101A>G (p.Ile1701Val) http://identifiers.org/clinvar/199769 ^@ NM_024422.4(DSC2):c.1576T>G (p.Ser526Ala) http://identifiers.org/clinvar/199825 ^@ NM_001943.4(DSG2):c.1015delG (p.Glu339Lysfs) http://identifiers.org/clinvar/201647 ^@ NM_001103.3(ACTN2):c.2194G>A (p.Ala732Thr) http://identifiers.org/clinvar/201921 ^@ NM_144573.3(NEXN):c.1028C>T (p.Ala343Val) http://identifiers.org/clinvar/201702 ^@ NM_001927.3(DES):c.727C>T (p.His243Tyr) http://identifiers.org/clinvar/202036 ^@ NM_002667.4(PLN):c.145G>A (p.Val49Met) http://identifiers.org/clinvar/202152 ^@ NM_014000.2(VCL):c.50C>A (p.Ala17Glu) http://identifiers.org/clinvar/201977 ^@ NM_004572.3(PKP2):c.1063C>T (p.Arg355Ter) http://identifiers.org/clinvar/201813 ^@ NM_002230.2(JUP):c.529C>T (p.Arg177Trp) http://identifiers.org/clinvar/201866 ^@ NM_033118.3(MYLK2):c.1204G>T (p.Val402Phe) http://identifiers.org/clinvar/202093 ^@ NM_000116.4(TAZ):c.582G>A (p.Trp194Ter) http://identifiers.org/clinvar/201757 ^@ NM_004009.3(DMD):c.2239C>T (p.Arg747Trp) http://identifiers.org/clinvar/202204 ^@ NM_000251.2(MSH2):c.2459G>A (p.Gly820Asp) http://identifiers.org/clinvar/202489 ^@ NM_001256850.1(TTN):c.84083dupT (p.Leu28029Profs) http://identifiers.org/clinvar/202327 ^@ NM_001256850.1(TTN):c.70046G>T (p.Gly23349Val) http://identifiers.org/clinvar/232816 ^@ NM_000038.5(APC):c.5479C>T (p.Leu1827Phe) http://identifiers.org/clinvar/230026 ^@ NM_000038.5(APC):c.5714A>G (p.Gln1905Arg) http://identifiers.org/clinvar/230076 ^@ NM_005732.3(RAD50):c.148A>C (p.Lys50Gln) http://identifiers.org/clinvar/233666 ^@ NM_005732.3(RAD50):c.1625C>G (p.Thr542Ser) http://identifiers.org/clinvar/233818 ^@ NM_005732.3(RAD50):c.2549G>A (p.Arg850His) http://identifiers.org/clinvar/230426 ^@ NM_000535.6(PMS2):c.1687C>A (p.Arg563=) http://identifiers.org/clinvar/230226 ^@ NM_002485.4(NBN):c.379G>A (p.Ala127Thr) http://identifiers.org/clinvar/230926 ^@ NM_020975.4(RET):c.1998G>C (p.Lys666Asn) http://identifiers.org/clinvar/233566 ^@ NM_000051.3(ATM):c.175G>T (p.Ala59Ser) http://identifiers.org/clinvar/232565 ^@ NM_000051.3(ATM):c.925A>G (p.Arg309Gly) http://identifiers.org/clinvar/233516 ^@ NM_000051.3(ATM):c.2549A>G (p.Glu850Gly) http://identifiers.org/clinvar/230676 ^@ NM_000051.3(ATM):c.4209C>T (p.Ser1403=) http://identifiers.org/clinvar/233016 ^@ NM_000051.3(ATM):c.5979_5983delTAAAG (p.Ser1993Argfs) http://identifiers.org/clinvar/230576 ^@ NM_000051.3(ATM):c.6217C>T (p.Leu2073Phe) http://identifiers.org/clinvar/232866 ^@ NM_000051.3(ATM):c.7602C>T (p.Gly2534=) http://identifiers.org/clinvar/229826 ^@ NM_000051.3(ATM):c.7793G>A (p.Arg2598Gln) http://identifiers.org/clinvar/230526 ^@ NM_005591.3(MRE11):c.1548T>G (p.Asp516Glu) http://identifiers.org/clinvar/230726 ^@ NM_005591.3(MRE11):c.1492G>A (p.Asp498Asn) http://identifiers.org/clinvar/230376 ^@ NM_005591.3(MRE11):c.339T>C (p.Asp113=) http://identifiers.org/clinvar/231076 ^@ NM_000059.3(BRCA2):c.1115A>G (p.Asn372Ser) http://identifiers.org/clinvar/230826 ^@ NM_000059.3(BRCA2):c.1457A>G (p.Gln486Arg) http://identifiers.org/clinvar/233416 ^@ NM_000059.3(BRCA2):c.1910G>T (p.Gly637Val) http://identifiers.org/clinvar/232666 ^@ NM_000059.3(BRCA2):c.2969T>A (p.Met990Lys) http://identifiers.org/clinvar/233716 ^@ NM_000059.3(BRCA2):c.3317G>A (p.Ser1106Asn) http://identifiers.org/clinvar/232716 ^@ NM_000059.3(BRCA2):c.6463C>T (p.Leu2155Phe) http://identifiers.org/clinvar/232966 ^@ NM_000059.3(BRCA2):c.9356T>A (p.Leu3119Ter) http://identifiers.org/clinvar/230326 ^@ NM_000059.3(BRCA2):c.9911G>A (p.Cys3304Tyr) http://identifiers.org/clinvar/229926 ^@ NM_000548.4(TSC2):c.3257_3259delGGG (p.Gly1086del) http://identifiers.org/clinvar/232766 ^@ NM_024675.3(PALB2):c.3471A>T (p.Gln1157His) http://identifiers.org/clinvar/233366 ^@ NM_024675.3(PALB2):c.1263G>A (p.Arg421=) http://identifiers.org/clinvar/230176 ^@ NM_024675.3(PALB2):c.1206delT (p.Leu403Cysfs) http://identifiers.org/clinvar/233066 ^@ NM_024675.3(PALB2):c.194C>G (p.Pro65Arg) http://identifiers.org/clinvar/230776 ^@ NM_004360.4(CDH1):c.1257T>C (p.Asp419=) http://identifiers.org/clinvar/232916 ^@ NM_001042492.2(NF1):c.3114-4A>G http://identifiers.org/clinvar/233616 ^@ NM_001042492.2(NF1):c.3871-4G>A http://identifiers.org/clinvar/233869 ^@ NM_001042492.2(NF1):c.5991G>A (p.Trp1997Ter) http://identifiers.org/clinvar/233166 ^@ NM_001042492.2(NF1):c.6300T>C (p.Leu2100=) http://identifiers.org/clinvar/233116 ^@ NM_001042492.2(NF1):c.6642G>A (p.Glu2214=) http://identifiers.org/clinvar/229876 ^@ NM_001042492.2(NF1):c.7234delA (p.Ile2412Phefs) http://identifiers.org/clinvar/230276 ^@ NM_007294.3(BRCA1):c.5176delA (p.Arg1726Glufs) http://identifiers.org/clinvar/233216 ^@ NM_007294.3(BRCA1):c.2235A>C (p.Glu745Asp) http://identifiers.org/clinvar/230126 ^@ NM_007294.3(BRCA1):c.1002delC (p.Ser335Alafs) http://identifiers.org/clinvar/233919 ^@ NM_058216.2(RAD51C):c.514C>G (p.Leu172Val) http://identifiers.org/clinvar/232616 ^@ NM_032043.2(BRIP1):c.3412G>A (p.Asp1138Asn) http://identifiers.org/clinvar/230476 ^@ NM_032043.2(BRIP1):c.1704T>G (p.Asn568Lys) http://identifiers.org/clinvar/233466 ^@ NM_000455.4(STK11):c.159C>G (p.Asp53Glu) http://identifiers.org/clinvar/230626 ^@ NM_007194.3(CHEK2):c.1462-3C>T http://identifiers.org/clinvar/230976 ^@ NM_007194.3(CHEK2):c.1134C>T (p.Thr378=) http://identifiers.org/clinvar/234982 ^@ NM_004281.3(BAG3):c.699C>A (p.Tyr233Ter) http://identifiers.org/clinvar/235033 ^@ NM_000257.3(MYH7):c.4402G>A (p.Glu1468Lys) http://identifiers.org/clinvar/235083 ^@ NM_033163.3(FGF8):c.617G>A (p.Arg206Gln) http://identifiers.org/clinvar/235219 ^@ NM_024105.3(ALG12):c.1288A>G (p.Thr430Ala) http://identifiers.org/clinvar/235272 ^@ NM_020732.3(ARID1B):c.6272T>C (p.Ile2091Thr) http://identifiers.org/clinvar/235326 ^@ NC_012920.1:m.8538T>C http://identifiers.org/clinvar/235379 ^@ NC_012920.1:m.7819C>A http://identifiers.org/clinvar/235433 ^@ NM_080669.5(SLC46A1):c.1366C>T (p.Pro456Ser) http://identifiers.org/clinvar/235487 ^@ NM_000124.3(ERCC6):c.3643G>A (p.Ala1215Thr) http://identifiers.org/clinvar/235540 ^@ NM_153609.3(TMPRSS6):c.1336C>T (p.Arg446Trp) http://identifiers.org/clinvar/235591 ^@ NC_012920.1:m.3447A>G http://identifiers.org/clinvar/235641 ^@ NC_012920.1:m.9509T>C http://identifiers.org/clinvar/235696 ^@ NC_012920.1:m.6071T>C http://identifiers.org/clinvar/235758 ^@ NM_020435.3(GJC2):c.108C>T (p.Ile36=) http://identifiers.org/clinvar/235831 ^@ NM_052867.2(NALCN):c.3493A>C (p.Thr1165Pro) http://identifiers.org/clinvar/235903 ^@ NM_001204197.1(NBEA):c.16C>T (p.Arg6Ter) http://identifiers.org/clinvar/236065 ^@ 15q15.3 deletion http://identifiers.org/clinvar/236115 ^@ NM_000350.2(ABCA4):c.4519G>A (p.Gly1507Arg) http://identifiers.org/clinvar/236165 ^@ NM_004621.5(TRPC6):c.2010-67A>T http://identifiers.org/clinvar/236241 ^@ NM_001183.5(ATP6AP1):c.1036G>A (p.Glu346Lys) http://identifiers.org/clinvar/236304 ^@ NC_000015.8:g.26762141_30302218del3540078 http://identifiers.org/clinvar/240955 ^@ NM_015074.3(KIF1B):c.186C>T (p.Pro62=) http://identifiers.org/clinvar/242005 ^@ NM_170707.3(LMNA):c.928C>T (p.Gln310Ter) http://identifiers.org/clinvar/237851 ^@ NM_000488.3(SERPINC1):c.716T>C (p.Ile239Thr) http://identifiers.org/clinvar/241005 ^@ NM_015120.4(ALMS1):c.60_77dup18 (p.Glu29_Ala30insGluGluGluGluGluGlu) http://identifiers.org/clinvar/241755 ^@ NM_053025.3(MYLK):c.2140+6G>A http://identifiers.org/clinvar/241855 ^@ NM_139076.2(FAM175A):c.1214G>A (p.Arg405Gln) http://identifiers.org/clinvar/241505 ^@ NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) http://identifiers.org/clinvar/241405 ^@ NM_021930.5(RINT1):c.2159G>A (p.Cys720Tyr) http://identifiers.org/clinvar/261804 ^@ NM_025074.6(FRAS1):c.2060A>G (p.Asp687Gly) http://identifiers.org/clinvar/258914 ^@ NM_003122.4(SPINK1):c.231G>A (p.Gly77=) http://identifiers.org/clinvar/259364 ^@ NM_004385.4(VCAN):c.393C>T (p.Asp131=) http://identifiers.org/clinvar/261254 ^@ NM_020381.3(PDSS2):c.876+6T>C http://identifiers.org/clinvar/259915 ^@ NM_006073.3(TRDN):c.2051-19G>A http://identifiers.org/clinvar/256065 ^@ NM_000426.3(LAMA2):c.3175-22G>A http://identifiers.org/clinvar/259164 ^@ NM_003764.3(STX11):c.829A>G (p.Thr277Ala) http://identifiers.org/clinvar/262154 ^@ NM_033071.3(SYNE1):c.11535+15C>T http://identifiers.org/clinvar/261104 ^@ NM_019105.6(TNXB):c.11258-20G>A http://identifiers.org/clinvar/261154 ^@ NM_019105.6(TNXB):c.7168+5G>A http://identifiers.org/clinvar/259614 ^@ NM_005045.3(RELN):c.8120-21A>C http://identifiers.org/clinvar/261054 ^@ NM_018718.2(CEP41):c.423-18C>A http://identifiers.org/clinvar/261954 ^@ NM_031243.2(HNRNPA2B1):c.555A>G (p.Arg185=) http://identifiers.org/clinvar/255415 ^@ NM_000168.5(GLI3):c.1029-16dupT http://identifiers.org/clinvar/256165 ^@ NM_000443.3(ABCB4):c.459T>C (p.Phe153=) http://identifiers.org/clinvar/256215 ^@ NM_000466.2(PEX1):c.-137T>C http://identifiers.org/clinvar/261304 ^@ NM_020476.2(ANK1):c.315C>T (p.Asn105=) http://identifiers.org/clinvar/259114 ^@ NM_003640.4(IKBKAP):c.545T>A (p.Met182Lys) http://identifiers.org/clinvar/261204 ^@ NM_019892.5(INPP5E):c.853T>C (p.Leu285=) http://identifiers.org/clinvar/256265 ^@ NM_000494.3(COL17A1):c.1267+13C>T http://identifiers.org/clinvar/259765 ^@ NM_005445.3(SMC3):c.1092-18T>C http://identifiers.org/clinvar/255315 ^@ NM_000141.4(FGFR2):c.1864-17T>G http://identifiers.org/clinvar/261004 ^@ NM_018109.3(MTPAP):c.1312+3A>G http://identifiers.org/clinvar/255165 ^@ NM_000124.3(ERCC6):c.2825C>T (p.Thr942Met) http://identifiers.org/clinvar/261554 ^@ NM_022124.5(CDH23):c.7225-22C>T http://identifiers.org/clinvar/255815 ^@ NM_000314.6(PTEN):c.960A>G (p.Leu320=) http://identifiers.org/clinvar/259464 ^@ NM_004621.5(TRPC6):c.888G>A (p.Thr296=) http://identifiers.org/clinvar/255565 ^@ NM_000218.2(KCNQ1):c.1033-4C>T http://identifiers.org/clinvar/256315 ^@ NM_000506.4(F2):c.423-7G>C http://identifiers.org/clinvar/255665 ^@ NM_000260.3(MYO7A):c.6438+50A>T http://identifiers.org/clinvar/255765 ^@ NM_000289.5(PFKM):c.594-41A>G http://identifiers.org/clinvar/261754 ^@ NM_024685.3(BBS10):c.1545T>C (p.Asp515=) http://identifiers.org/clinvar/261854 ^@ NM_025114.3(CEP290):c.7034+40T>A http://identifiers.org/clinvar/259214 ^@ NM_004004.5(GJB2):c.-22-35G>T http://identifiers.org/clinvar/261604 ^@ NM_022489.3(INF2):c.1736-18C>T http://identifiers.org/clinvar/261354 ^@ NM_020806.4(GPHN):c.202-6T>C http://identifiers.org/clinvar/255715 ^@ NM_000275.2(OCA2):c.1047C>T (p.Ile349=) http://identifiers.org/clinvar/335651 ^@ NM_001029883.2(C2orf71):c.2022C>A (p.Phe674Leu) http://identifiers.org/clinvar/335001 ^@ NM_005199.4(CHRNG):c.357C>T (p.Asp119=) http://identifiers.org/clinvar/335101 ^@ NM_004369.3(COL6A3):c.8137A>G (p.Arg2713Gly) http://identifiers.org/clinvar/332660 ^@ NM_001042702.3(DFNB59):c.753C>A (p.Ile251=) http://identifiers.org/clinvar/335151 ^@ NM_004544.3(NDUFA10):c.*3557G>A http://identifiers.org/clinvar/332760 ^@ NM_133378.4(TTN):c.74429A>C (p.Lys24810Thr) http://identifiers.org/clinvar/335201 ^@ NM_004544.3(NDUFA10):c.749+11C>T http://identifiers.org/clinvar/333160 ^@ NM_014585.5(SLC40A1):c.*50G>A http://identifiers.org/clinvar/333260 ^@ NM_007315.3(STAT1):c.*428G>C http://identifiers.org/clinvar/333949 ^@ NM_015040.3(PIKFYVE):c.*772dupT http://identifiers.org/clinvar/334100 ^@ NM_000384.2(APOB):c.11362G>A (p.Glu3788Lys) http://identifiers.org/clinvar/336997 ^@ NM_003124.4(SPR):c.*410C>G http://identifiers.org/clinvar/337147 ^@ NM_003849.3(SUCLG1):c.*218A>G http://identifiers.org/clinvar/337197 ^@ NM_000821.6(GGCX):c.*3606G>A http://identifiers.org/clinvar/337247 ^@ NM_000821.6(GGCX):c.*421_*422dupTG http://identifiers.org/clinvar/334050 ^@ NM_001875.4(CPS1):c.*849A>G http://identifiers.org/clinvar/334501 ^@ NM_015311.2(OBSL1):c.2721T>C (p.Tyr907=) http://identifiers.org/clinvar/334401 ^@ NM_025216.2(WNT10A):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/334651 ^@ NM_000092.4(COL4A4):c.*3948C>T http://identifiers.org/clinvar/334901 ^@ NM_004509.3(SP110):c.1591-6T>G http://identifiers.org/clinvar/334951 ^@ NM_152383.4(DIS3L2):c.*86delT http://identifiers.org/clinvar/337347 ^@ NM_022912.2(REEP1):c.*2827T>C http://identifiers.org/clinvar/337397 ^@ NM_004836.6(EIF2AK3):c.*271T>G http://identifiers.org/clinvar/342837 ^@ NM_053025.3(MYLK):c.*1135G>A http://identifiers.org/clinvar/335051 ^@ NM_002242.4(KCNJ13):c.*102T>G http://identifiers.org/clinvar/342887 ^@ NM_053025.3(MYLK):c.2779G>A (p.Ala927Thr) http://identifiers.org/clinvar/337547 ^@ NM_014014.4(SNRNP200):c.3632A>G (p.Asp1211Gly) http://identifiers.org/clinvar/342937 ^@ NM_000373.3(UMPS):c.*28A>G http://identifiers.org/clinvar/337647 ^@ NM_001298.2(CNGA3):c.-326G>A http://identifiers.org/clinvar/334851 ^@ NM_025243.3(SLC19A3):c.*1427T>C http://identifiers.org/clinvar/343387 ^@ NM_153240.4(NPHP3):c.1813C>T (p.Arg605Cys) http://identifiers.org/clinvar/343437 ^@ NM_001063.3(TF):c.635+13T>A http://identifiers.org/clinvar/343637 ^@ NM_000935.2(PLOD2):c.*764A>G http://identifiers.org/clinvar/342987 ^@ NM_000373.3(UMPS):c.*2715_*2718delATGC http://identifiers.org/clinvar/343037 ^@ NM_000373.3(UMPS):c.*4765_*4767delCCT http://identifiers.org/clinvar/343137 ^@ NM_032638.4(GATA2):c.800C>T (p.Pro267Leu) http://identifiers.org/clinvar/343187 ^@ NM_014049.4(ACAD9):c.-91G>T http://identifiers.org/clinvar/343237 ^@ NM_052985.3(IFT122):c.1162-14C>T http://identifiers.org/clinvar/343287 ^@ NM_000539.3(RHO):c.*139_*140delTT http://identifiers.org/clinvar/350606 ^@ NM_005573.3(LMNB1):c.-437C>G http://identifiers.org/clinvar/350756 ^@ NM_001999.3(FBN2):c.8601A>G (p.Thr2867=) http://identifiers.org/clinvar/350806 ^@ NM_003060.3(SLC22A5):c.-207C>G http://identifiers.org/clinvar/350906 ^@ NM_001369.2(DNAH5):c.*1361G>T http://identifiers.org/clinvar/354853 ^@ NM_007214.4(SEC63):c.*1941C>T http://identifiers.org/clinvar/350956 ^@ NM_017415.2(KLHL3):c.*2080A>C http://identifiers.org/clinvar/351106 ^@ NM_022464.4(SIL1):c.-94G>C http://identifiers.org/clinvar/351056 ^@ NM_001369.2(DNAH5):c.8006A>T (p.Asp2669Val) http://identifiers.org/clinvar/351206 ^@ NM_001369.2(DNAH5):c.1870G>A (p.Ala624Thr) http://identifiers.org/clinvar/358432 ^@ NM_005045.3(RELN):c.-35G>C http://identifiers.org/clinvar/351306 ^@ NM_005219.4(DIAPH1):c.200C>T (p.Ala67Val) http://identifiers.org/clinvar/351356 ^@ NM_001018077.1(NR3C1):c.*409dupC http://identifiers.org/clinvar/358732 ^@ NM_000492.3(CFTR):c.2559T>C (p.Ile853=) http://identifiers.org/clinvar/358782 ^@ NM_006193.2(PAX4):c.*492_*493dupGC http://identifiers.org/clinvar/351406 ^@ NM_054027.4(ANKH):c.*5281delA http://identifiers.org/clinvar/351456 ^@ NM_054027.4(ANKH):c.*2113delC http://identifiers.org/clinvar/351556 ^@ NM_054027.4(ANKH):c.314-13C>T http://identifiers.org/clinvar/358832 ^@ NM_000230.2(LEP):c.*1014C>G http://identifiers.org/clinvar/358882 ^@ NM_000883.3(IMPDH1):c.-69T>G http://identifiers.org/clinvar/358932 ^@ NM_018718.2(CEP41):c.*747G>A http://identifiers.org/clinvar/359032 ^@ NM_020632.2(ATP6V0A4):c.118-3T>A http://identifiers.org/clinvar/355943 ^@ NM_033071.3(SYNE1):c.1197G>A (p.Val399=) http://identifiers.org/clinvar/359132 ^@ NM_001080413.3(NOBOX):c.1938A>G (p.Ser646=) http://identifiers.org/clinvar/355993 ^@ NM_004562.2(PRKN):c.*1685A>G http://identifiers.org/clinvar/356143 ^@ NM_001080.3(ALDH5A1):c.*40T>C http://identifiers.org/clinvar/359632 ^@ NM_001277115.1(DNAH11):c.5186C>A (p.Pro1729His) http://identifiers.org/clinvar/356443 ^@ NM_021922.2(FANCE):c.248+7C>A http://identifiers.org/clinvar/356493 ^@ NM_182548.3(LHFPL5):c.*169G>C http://identifiers.org/clinvar/356593 ^@ NM_005943.5(MOCS1):c.*2625G>A http://identifiers.org/clinvar/356743 ^@ NM_000322.4(PRPH2):c.*1687C>T http://identifiers.org/clinvar/356843 ^@ NM_014780.4(CUL7):c.2115C>T (p.His705=) http://identifiers.org/clinvar/360771 ^@ NM_001001547.2(CD36):c.*47A>G http://identifiers.org/clinvar/360821 ^@ NM_005751.4(AKAP9):c.3318+13C>A http://identifiers.org/clinvar/360971 ^@ NM_000089.3(COL1A2):c.3712-13C>T http://identifiers.org/clinvar/361021 ^@ NM_014251.2(SLC25A13):c.1177+5G>A http://identifiers.org/clinvar/361472 ^@ NM_001715.2(BLK):c.-9T>C http://identifiers.org/clinvar/306226 ^@ NM_024079.4(ALG8):c.251A>G (p.Tyr84Cys) http://identifiers.org/clinvar/363820 ^@ NM_000318.2(PEX2):c.-164C>A http://identifiers.org/clinvar/363870 ^@ NM_019098.4(CNGB3):c.1714C>G (p.Leu572Val) http://identifiers.org/clinvar/299823 ^@ NM_021252.4(RAB18):c.*99C>T http://identifiers.org/clinvar/306276 ^@ NM_024698.5(SLC25A22):c.-155T>C http://identifiers.org/clinvar/306327 ^@ NM_012193.3(FZD4):c.*5282_*5283delTT http://identifiers.org/clinvar/363920 ^@ NM_153704.5(TMEM67):c.1446C>T (p.Asn482=) http://identifiers.org/clinvar/300123 ^@ NM_000242.2(MBL2):c.*1694G>T http://identifiers.org/clinvar/306577 ^@ NM_030962.3(SBF2):c.5231+14C>T http://identifiers.org/clinvar/364020 ^@ NM_001001557.3(GDF6):c.*711G>T http://identifiers.org/clinvar/364270 ^@ NM_001701.3(BAAT):c.*611G>A http://identifiers.org/clinvar/306877 ^@ NM_000618.4(IGF1):c.*3226C>G http://identifiers.org/clinvar/364420 ^@ NM_005502.3(ABCA1):c.3204C>T (p.Arg1068=) http://identifiers.org/clinvar/308416 ^@ NM_001278464.1(DNM1L):c.*1213G>T http://identifiers.org/clinvar/308566 ^@ NM_017641.3(KIF21A):c.2743C>T (p.Arg915Cys) http://identifiers.org/clinvar/308916 ^@ NM_001844.4(COL2A1):c.2819G>A (p.Arg940Gln) http://identifiers.org/clinvar/309066 ^@ NM_003482.3(KMT2D):c.4000T>G (p.Ser1334Ala) http://identifiers.org/clinvar/309166 ^@ NM_000217.2(KCNA1):c.*1012A>T http://identifiers.org/clinvar/309216 ^@ NM_000217.2(KCNA1):c.*4718C>T http://identifiers.org/clinvar/309316 ^@ NM_000617.2(SLC11A2):c.647C>T (p.Thr216Ile) http://identifiers.org/clinvar/309366 ^@ NM_014191.3(SCN8A):c.4542C>T (p.Ile1514=) http://identifiers.org/clinvar/309516 ^@ NM_002282.3(KRT83):c.843C>T (p.Ala281=) http://identifiers.org/clinvar/302112 ^@ NM_001080463.1(DYNC2H1):c.11670+4A>T http://identifiers.org/clinvar/302262 ^@ NM_000051.3(ATM):c.*540dupA http://identifiers.org/clinvar/310405 ^@ NM_001131025.1(PEX5):c.-515G>T http://identifiers.org/clinvar/310455 ^@ NM_001131025.1(PEX5):c.*960C>G http://identifiers.org/clinvar/302762 ^@ NM_005188.3(CBL):c.-126_-125insTGGCGG http://identifiers.org/clinvar/310605 ^@ NM_025114.3(CEP290):c.3950A>C (p.Lys1317Thr) http://identifiers.org/clinvar/302862 ^@ NM_005188.3(CBL):c.*5123C>T http://identifiers.org/clinvar/310910 ^@ NM_000123.3(ERCC5):c.-72C>T http://identifiers.org/clinvar/310960 ^@ NM_002312.3(LIG4):c.*352A>C http://identifiers.org/clinvar/321984 ^@ NM_017775.3(TTC19):c.*1791T>C http://identifiers.org/clinvar/322134 ^@ NM_016239.3(MYO15A):c.4038+6_4038+7insTCAG http://identifiers.org/clinvar/322234 ^@ NM_000382.2(ALDH3A2):c.*1452C>G http://identifiers.org/clinvar/322284 ^@ NM_000430.3(PAFAH1B1):c.*1356C>T http://identifiers.org/clinvar/312999 ^@ NM_000359.2(TGM1):c.-42C>T http://identifiers.org/clinvar/322434 ^@ NM_003593.2(FOXN1):c.1657A>G (p.Ser553Gly) http://identifiers.org/clinvar/322684 ^@ NM_145068.3(TRPV3):c.*2895C>G http://identifiers.org/clinvar/313199 ^@ NM_020937.3(FANCM):c.1576C>G (p.Leu526Val) http://identifiers.org/clinvar/313299 ^@ NM_015915.4(ATL1):c.693T>C (p.Gly231=) http://identifiers.org/clinvar/322634 ^@ NM_000286.2(PEX12):c.*922T>C http://identifiers.org/clinvar/315288 ^@ NM_139057.3(ADAMTS17):c.1587G>C (p.Ala529=) http://identifiers.org/clinvar/313599 ^@ NM_182914.2(SYNE2):c.14225C>T (p.Ala4742Val) http://identifiers.org/clinvar/313699 ^@ NM_000347.5(SPTB):c.6324G>A (p.Ala2108=) http://identifiers.org/clinvar/323423 ^@ NM_007294.3(BRCA1):c.-86C>T http://identifiers.org/clinvar/315688 ^@ NM_005159.4(ACTC1):c.*619A>T http://identifiers.org/clinvar/314049 ^@ NM_031427.3(DNAL1):c.*1900T>C http://identifiers.org/clinvar/314099 ^@ NM_031427.3(DNAL1):c.*5216G>A http://identifiers.org/clinvar/323723 ^@ NM_005910.5(MAPT):c.*3765G>A http://identifiers.org/clinvar/315938 ^@ NM_138477.2(CDAN1):c.2059C>T (p.Arg687Cys) http://identifiers.org/clinvar/315988 ^@ NM_173500.3(TTBK2):c.2210T>C (p.Ile737Thr) http://identifiers.org/clinvar/367949 ^@ NM_004840.2(ARHGEF6):c.-222T>A http://identifiers.org/clinvar/367999 ^@ NM_000133.3(F9):c.391+7A>G http://identifiers.org/clinvar/314199 ^@ NM_182894.2(VSX2):c.810C>G (p.Pro270=) http://identifiers.org/clinvar/323923 ^@ NM_018129.3(PNPO):c.*764dupT http://identifiers.org/clinvar/316188 ^@ NM_014080.4(DUOX2):c.377C>T (p.Ala126Val) http://identifiers.org/clinvar/324023 ^@ NM_005220.2(DLX3):c.582G>A (p.Pro194=) http://identifiers.org/clinvar/316338 ^@ NM_000138.4(FBN1):c.*1298C>G http://identifiers.org/clinvar/316588 ^@ NM_182758.3(WDR72):c.2497T>G (p.Ser833Ala) http://identifiers.org/clinvar/324332 ^@ NM_032043.2(BRIP1):c.*900C>A http://identifiers.org/clinvar/324482 ^@ NM_000334.4(SCN4A):c.*1324T>C http://identifiers.org/clinvar/316838 ^@ NM_002755.3(MAP2K1):c.1130C>T (p.Ser377Phe) http://identifiers.org/clinvar/315788 ^@ NM_152594.2(SPRED1):c.*5090dupT http://identifiers.org/clinvar/315888 ^@ NM_000070.2(CAPN3):c.-300C>G http://identifiers.org/clinvar/316288 ^@ NM_000338.2(SLC12A1):c.*153T>C http://identifiers.org/clinvar/316388 ^@ NM_000138.4(FBN1):c.885T>G (p.Ile295Met) http://identifiers.org/clinvar/371793 ^@ NM_000038.5(APC):c.7402T>G (p.Ser2468Ala) http://identifiers.org/clinvar/372154 ^@ NM_002444.2(MSN):c.511C>T (p.Arg171Trp) http://identifiers.org/clinvar/372222 ^@ NM_176869.2(PPA2):c.514G>A (p.Glu172Lys) http://identifiers.org/clinvar/372276 ^@ NM_181783.3(TMTC3):c.199C>G (p.His67Asp) http://identifiers.org/clinvar/372793 ^@ NM_000702.3(ATP1A2):c.152G>A (p.Arg51His) http://identifiers.org/clinvar/372846 ^@ NM_000530.7(MPZ):c.68-1G>C http://identifiers.org/clinvar/373249 ^@ NM_001035.2(RYR2):c.3844T>C (p.Cys1282Arg) http://identifiers.org/clinvar/372999 ^@ NM_001165963.1(SCN1A):c.1377+1delG http://identifiers.org/clinvar/372329 ^@ NM_000094.3(COL7A1):c.682+1G>A http://identifiers.org/clinvar/372743 ^@ NM_004387.3(NKX2-5):c.356C>A (p.Ala119Glu) http://identifiers.org/clinvar/372589 ^@ NM_000238.3(KCNH2):c.121G>C (p.Val41Leu) http://identifiers.org/clinvar/372693 ^@ NM_000188.2(HK1):c.1370C>T (p.Thr457Met) http://identifiers.org/clinvar/372379 ^@ NM_000190.3(HMBS):c.532G>A (p.Asp178Asn) http://identifiers.org/clinvar/372430 ^@ NM_000260.3(MYO7A):c.1555-8C>G http://identifiers.org/clinvar/373399 ^@ NM_002465.3(MYBPC1):c.1493A>G (p.Glu498Gly) http://identifiers.org/clinvar/372896 ^@ NM_020547.3(AMHR2):c.1387C>T (p.Arg463Cys) http://identifiers.org/clinvar/373299 ^@ NM_014967.4(FAN1):c.1090A>C (p.Asn364His) http://identifiers.org/clinvar/373449 ^@ NM_022166.3(XYLT1):c.421C>T (p.Arg141Trp) http://identifiers.org/clinvar/372949 ^@ NM_001127464.2(ZNF469):c.1609G>A (p.Val537Met) http://identifiers.org/clinvar/373349 ^@ NM_003331.4(TYK2):c.2494C>T (p.Arg832Trp) http://identifiers.org/clinvar/372486 ^@ NM_058216.2(RAD51C):c.561_562delCA (p.His187Glnfs) http://identifiers.org/clinvar/372539 ^@ NM_000546.5(TP53):c.626_627delGA (p.Arg209Lysfs) http://identifiers.org/clinvar/372640 ^@ NM_030662.3(MAP2K2):c.1036G>A (p.Val346Ile) http://identifiers.org/clinvar/373099 ^@ NM_000444.5(PHEX):c.1586+6T>G http://identifiers.org/clinvar/374245 ^@ NM_203475.2(PORCN):c.565T>C (p.Trp189Arg) http://identifiers.org/clinvar/374315 ^@ NM_000057.3(BLM):c.1544delA (p.Asn515Metfs) http://identifiers.org/clinvar/374380 ^@ NM_017534.5(MYH2):c.1160C>T (p.Ala387Val) http://identifiers.org/clinvar/374433 ^@ NM_178857.5(RP1L1):c.2456G>C (p.Gly819Ala) http://identifiers.org/clinvar/374483 ^@ NM_001160148.1(DDHD1):c.2649C>T (p.Phe883=) http://identifiers.org/clinvar/374533 ^@ NM_001184880.1(PCDH19):c.2975C>T (p.Ala992Val) http://identifiers.org/clinvar/374583 ^@ NM_014244.4(ADAMTS2):c.3076G>A (p.Gly1026Ser) http://identifiers.org/clinvar/374633 ^@ NM_002427.3(MMP13):c.788A>G (p.Gln263Arg) http://identifiers.org/clinvar/374683 ^@ NM_175073.2(APTX):c.164A>G (p.Tyr55Cys) http://identifiers.org/clinvar/374733 ^@ NM_024740.2(ALG9):c.1659C>T (p.Pro553=) http://identifiers.org/clinvar/374784 ^@ NM_003919.2(SGCE):c.667delT (p.Tyr223Metfs) http://identifiers.org/clinvar/374843 ^@ NM_021964.2(ZNF148):c.1583dupA (p.Ser529Glufs) http://identifiers.org/clinvar/374893 ^@ NM_138773.3(SLC25A46):c.413T>G (p.Leu138Arg) http://identifiers.org/clinvar/374960 ^@ NM_000179.2(MSH6):c.2782A>G (p.Thr928Ala) http://identifiers.org/clinvar/375230 ^@ NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del http://identifiers.org/clinvar/375291 ^@ NM_003995.3(NPR2):c.2302T>C (p.Cys768Arg) http://identifiers.org/clinvar/375345 ^@ NM_182476.2(COQ6):c.1383delG (p.Ile462LeufsTer18) http://identifiers.org/clinvar/375397 ^@ NM_001199162.1(USP19):c.1624G>T (p.Val542Leu) http://identifiers.org/clinvar/375457 ^@ NM_001853.3(COL9A3):c.1747C>T (p.Arg583Cys) http://identifiers.org/clinvar/375520 ^@ NM_003165.3(STXBP1):c.57_59delAAA (p.Ile19_Lys20delinsMet) http://identifiers.org/clinvar/375579 ^@ NM_001733.4(C1R):c.1092G>C (p.Trp364Cys) http://identifiers.org/clinvar/375637 ^@ NM_000093.4(COL5A1):c.2203dupC (p.Gln735Profs) http://identifiers.org/clinvar/375707 ^@ NM_001199107.1(TBC1D24):c.1078C>T (p.Arg360Cys) http://identifiers.org/clinvar/375782 ^@ NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) http://identifiers.org/clinvar/375832 ^@ NM_000527.4(LDLR):c.2085delC (p.Cys696Alafs) http://identifiers.org/clinvar/375885 ^@ NM_004304.4(ALK):c.3735C>G (p.Phe1245Leu) http://identifiers.org/clinvar/387689 ^@ NM_001256850.1(TTN):c.10115-17T>G http://identifiers.org/clinvar/389828 ^@ NM_000393.4(COL5A2):c.4114-20A>G http://identifiers.org/clinvar/389728 ^@ NM_000179.2(MSH6):c.1842C>G (p.Ser614=) http://identifiers.org/clinvar/384550 ^@ NM_001135659.2(NRXN1):c.4548A>G (p.Ala1516=) http://identifiers.org/clinvar/391667 ^@ NM_015929.3(LIPT1):c.1053A>G (p.Thr351=) http://identifiers.org/clinvar/391917 ^@ NM_006514.3(SCN10A):c.5626A>G (p.Thr1876Ala) http://identifiers.org/clinvar/381455 ^@ NM_018297.3(NGLY1):c.1722A>G (p.Gln574=) http://identifiers.org/clinvar/385200 ^@ NM_000179.2(MSH6):c.2919T>G (p.Gly973=) http://identifiers.org/clinvar/389428 ^@ NM_004393.5(DAG1):c.2406C>T (p.Asp802=) http://identifiers.org/clinvar/387839 ^@ NM_001135659.2(NRXN1):c.1880-11C>G http://identifiers.org/clinvar/377492 ^@ NM_000038.5(APC):c.4143A>C (p.Pro1381=) http://identifiers.org/clinvar/384299 ^@ NM_024582.4(FAT4):c.9885G>A (p.Val3295=) http://identifiers.org/clinvar/380905 ^@ NM_024582.4(FAT4):c.14355C>T (p.Val4785=) http://identifiers.org/clinvar/387639 ^@ NM_014402.4(UQCRQ):c.165G>C (p.Val55=) http://identifiers.org/clinvar/380754 ^@ NM_014476.5(PDLIM3):c.-33C>T http://identifiers.org/clinvar/381005 ^@ NM_014845.5(FIG4):c.446+9G>A http://identifiers.org/clinvar/384199 ^@ NM_000045.3(ARG1):c.131-11T>C http://identifiers.org/clinvar/380804 ^@ NM_021911.2(GABRB2):c.542-11T>C http://identifiers.org/clinvar/381205 ^@ NM_032340.3(UQCC2):c.321G>A (p.Met107Ile) http://identifiers.org/clinvar/391317 ^@ NM_002397.4(MEF2C):c.225G>T (p.Pro75=) http://identifiers.org/clinvar/383348 ^@ NM_000038.5(APC):c.1035A>T (p.Ile345=) http://identifiers.org/clinvar/384850 ^@ NM_006348.3(COG5):c.1842+7G>A http://identifiers.org/clinvar/384800 ^@ NM_001999.3(FBN2):c.8192+6G>A http://identifiers.org/clinvar/381755 ^@ NM_001999.3(FBN2):c.7594+12G>A http://identifiers.org/clinvar/387039 ^@ NM_000337.5(SGCD):c.-80G>T http://identifiers.org/clinvar/391517 ^@ NM_001130438.2(SPTAN1):c.1584A>G (p.Glu528=) http://identifiers.org/clinvar/387139 ^@ NM_001916.4(CYC1):c.681G>A (p.Leu227=) http://identifiers.org/clinvar/391767 ^@ NM_006059.3(LAMC3):c.3276G>A (p.Glu1092=) http://identifiers.org/clinvar/390328 ^@ NM_000093.4(COL5A1):c.231C>T (p.Val77=) http://identifiers.org/clinvar/390528 ^@ NM_024790.6(CSPP1):c.3390T>G (p.Leu1130=) http://identifiers.org/clinvar/389678 ^@ NM_002485.4(NBN):c.1998C>T (p.Asn666=) http://identifiers.org/clinvar/384700 ^@ NM_013352.3(DSE):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/386989 ^@ NM_000445.4(PLEC):c.2694-19T>A http://identifiers.org/clinvar/392467 ^@ NM_017570.4(OPLAH):c.2770C>T (p.Arg924Cys) http://identifiers.org/clinvar/391567 ^@ NM_003923.2(FOXH1):c.44A>C (p.Glu15Ala) http://identifiers.org/clinvar/384099 ^@ NM_017617.4(NOTCH1):c.2588-2A>C http://identifiers.org/clinvar/389978 ^@ NM_002485.4(NBN):c.703-17T>C http://identifiers.org/clinvar/390428 ^@ NM_003172.3(SURF1):c.447C>T (p.Gly149=) http://identifiers.org/clinvar/385100 ^@ NM_001134363.2(RBM20):c.2835A>G (p.Thr945=) http://identifiers.org/clinvar/133928 ^@ NM_004380.2(CREBBP):c.3611A>T (p.Tyr1204Phe) http://identifiers.org/clinvar/133978 ^@ NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) http://identifiers.org/clinvar/134028 ^@ NM_005228.4(EGFR):c.2981_2983delACTinsGTG (p.Asp994_Ser995delinsGlyAla) http://identifiers.org/clinvar/134080 ^@ NM_001005862.2(ERBB2):c.3337C>A (p.Pro1113Thr) http://identifiers.org/clinvar/134130 ^@ NM_000122.1(ERCC3):c.1421dupA (p.Asp474Glufs) http://identifiers.org/clinvar/134180 ^@ NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) http://identifiers.org/clinvar/134230 ^@ NM_017709.3(FAM46C):c.773C>T (p.Thr258Ile) http://identifiers.org/clinvar/134281 ^@ NM_000135.2(FANCA):c.4036G>A (p.Ala1346Thr) http://identifiers.org/clinvar/134331 ^@ NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) http://identifiers.org/clinvar/134382 ^@ NM_033632.3(FBXW7):c.397A>G (p.Arg133Gly) http://identifiers.org/clinvar/134432 ^@ NM_144997.5(FLCN):c.1049G>A (p.Arg350Gln) http://identifiers.org/clinvar/134482 ^@ NM_001077490.2(GNAS):c.1351C>T (p.Arg451Trp) http://identifiers.org/clinvar/134532 ^@ NM_002185.3(IL7R):c.1043A>C (p.Asn348Thr) http://identifiers.org/clinvar/134582 ^@ NM_000215.3(JAK3):c.843G>C (p.Trp281Cys) http://identifiers.org/clinvar/134632 ^@ NM_001300.5(KLF6):c.276C>A (p.Ser92Arg) http://identifiers.org/clinvar/134684 ^@ NM_003482.3(KMT2D):c.191G>A (p.Arg64Gln) http://identifiers.org/clinvar/134735 ^@ NM_170606.2(KMT2C):c.1424_1426delATC (p.His475del) http://identifiers.org/clinvar/134785 ^@ NM_170606.2(KMT2C):c.10723A>G (p.Thr3575Ala) http://identifiers.org/clinvar/134836 ^@ NM_005373.2(MPL):c.1120_1121delACinsGG (p.Thr374Gly) http://identifiers.org/clinvar/134889 ^@ NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) http://identifiers.org/clinvar/134939 ^@ NM_017617.4(NOTCH1):c.4823G>A (p.Arg1608His) http://identifiers.org/clinvar/134989 ^@ NM_002520.6(NPM1):c.428C>G (p.Ser143Cys) http://identifiers.org/clinvar/135039 ^@ NM_181523.2(PIK3R1):c.978G>A (p.Met326Ile) http://identifiers.org/clinvar/135090 ^@ NM_001198.3(PRDM1):c.2233G>A (p.Val745Met) http://identifiers.org/clinvar/135141 ^@ NM_004260.3(RECQL4):c.2467G>A (p.Glu823Lys) http://identifiers.org/clinvar/135222 ^@ NM_014159.6(SETD2):c.2783C>G (p.Thr928Arg) http://identifiers.org/clinvar/135273 ^@ NM_003745.1(SOCS1):c.16C>G (p.Gln6Glu) http://identifiers.org/clinvar/135323 ^@ NM_001127208.2(TET2):c.2599T>C (p.Tyr867His) http://identifiers.org/clinvar/135373 ^@ NM_000548.4(TSC2):c.1912G>A (p.Val638Met) http://identifiers.org/clinvar/135424 ^@ NM_000553.4(WRN):c.2937T>G (p.Ile979Met) http://identifiers.org/clinvar/135919 ^@ NM_000455.4(STK11):c.301C>G (p.Leu101Val) http://identifiers.org/clinvar/187215 ^@ NM_001042492.2(NF1):c.7057_7059delGAC (p.Asp2353del) http://identifiers.org/clinvar/187065 ^@ NM_002878.3(RAD51D):c.907A>G (p.Thr303Ala) http://identifiers.org/clinvar/184924 ^@ NM_002878.3(RAD51D):c.131G>A (p.Gly44Asp) http://identifiers.org/clinvar/185124 ^@ NM_007294.3(BRCA1):c.5396C>T (p.Thr1799Ile) http://identifiers.org/clinvar/184874 ^@ NM_007294.3(BRCA1):c.4764T>C (p.Ala1588=) http://identifiers.org/clinvar/184974 ^@ NM_007294.3(BRCA1):c.4366A>G (p.Thr1456Ala) http://identifiers.org/clinvar/184374 ^@ NM_007294.3(BRCA1):c.3238T>C (p.Leu1080=) http://identifiers.org/clinvar/184424 ^@ NM_007294.3(BRCA1):c.2706A>G (p.Glu902=) http://identifiers.org/clinvar/184574 ^@ NM_007294.3(BRCA1):c.1842G>A (p.Lys614=) http://identifiers.org/clinvar/187465 ^@ NM_007294.3(BRCA1):c.1300A>G (p.Ser434Gly) http://identifiers.org/clinvar/185074 ^@ NM_058216.2(RAD51C):c.630T>G (p.Tyr210Ter) http://identifiers.org/clinvar/184224 ^@ NM_032043.2(BRIP1):c.225C>T (p.Gly75=) http://identifiers.org/clinvar/187769 ^@ NM_001010898.3(SLC6A17):c.484G>A (p.Gly162Arg) http://identifiers.org/clinvar/187826 ^@ NC_000020.10:g.(?_47682662)_(49884981_?)del http://identifiers.org/clinvar/187898 ^@ NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter) http://identifiers.org/clinvar/187948 ^@ NM_004409.4(DMPK):c.*224_*226[260] http://identifiers.org/clinvar/187998 ^@ NM_004409.4(DMPK):c.*224_*226[53] http://identifiers.org/clinvar/188048 ^@ NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del http://identifiers.org/clinvar/188150 ^@ NM_000264.3(PTCH1):c.2440A>C (p.Asn814His) http://identifiers.org/clinvar/188359 ^@ NM_000051.3(ATM):c.902G>A (p.Gly301Asp) http://identifiers.org/clinvar/188201 ^@ NM_000051.3(ATM):c.6107A>G (p.Tyr2036Cys) http://identifiers.org/clinvar/188099 ^@ NM_130799.2(MEN1):c.1409C>T (p.Pro470Leu) http://identifiers.org/clinvar/188253 ^@ NM_000059.3(BRCA2):c.3807_3808invTG (p.Val1270Phefs) http://identifiers.org/clinvar/188306 ^@ NM_000267.3(NF1):c.4269+2T>C http://identifiers.org/clinvar/189109 ^@ NM_000053.3(ATP7B):c.1924G>C (p.Asp642His) http://identifiers.org/clinvar/189159 ^@ NM_000018.3(ACADVL):c.433C>T (p.Gln145Ter) http://identifiers.org/clinvar/189225 ^@ NM_000080.3(CHRNE):c.1033-2A>T http://identifiers.org/clinvar/189277 ^@ NM_014795.3(ZEB2):c.1884delT (p.Phe628Leufs) http://identifiers.org/clinvar/189336 ^@ NM_001190442.1(CAST):c.1585delG (p.Val529Trpfs) http://identifiers.org/clinvar/189488 ^@ NM_000314.6(PTEN):c.437T>A (p.Leu146Ter) http://identifiers.org/clinvar/189427 ^@ NM_000314.6(PTEN):c.802-18_802-14delCTTTT http://identifiers.org/clinvar/189649 ^@ NM_004992.3(MECP2):c.1101_(1396_?)del (p.His(368_?)Alafs) http://identifiers.org/clinvar/189749 ^@ NM_004992.3(MECP2):c.1123_1191del69 (p.Ser375_Glu397del) http://identifiers.org/clinvar/189699 ^@ NM_004992.3(MECP2):c.27-6215_1190del http://identifiers.org/clinvar/189821 ^@ NM_002334.3(LRP4):c.3830G>A (p.Arg1277His) http://identifiers.org/clinvar/189983 ^@ NM_001165963.1(SCN1A):c.5284_5291dupGGAATTTT (p.Phe1764Leufs) http://identifiers.org/clinvar/189883 ^@ NM_001165963.1(SCN1A):c.3730C>T (p.Gln1244Ter) http://identifiers.org/clinvar/189933 ^@ NM_001165963.1(SCN1A):c.3706G>C (p.Ala1236Pro) http://identifiers.org/clinvar/190034 ^@ NC_000006.11:g.(?_129040519)_(129222690_?)del http://identifiers.org/clinvar/190168 ^@ NM_000124.3(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203Argfs) http://identifiers.org/clinvar/190219 ^@ NM_007254.3(PNKP):c.1221_1223delCAC (p.Thr408del) http://identifiers.org/clinvar/190287 ^@ NM_006245.3(PPP2R5D):c.602C>G (p.Pro201Arg) http://identifiers.org/clinvar/190413 ^@ NC_000018.9(TXNL4A):g.77748604_77748637del34 http://identifiers.org/clinvar/228985 ^@ NM_017433.4(MYO3A):c.4840C>T (p.Gln1614Ter) http://identifiers.org/clinvar/229035 ^@ NM_032578.3(MYPN):c.3156C>T (p.His1052=) http://identifiers.org/clinvar/228485 ^@ NM_022124.5(CDH23):c.1672G>A (p.Val558Met) http://identifiers.org/clinvar/227784 ^@ NM_001277269.1(OTOG):c.5288G>A (p.Arg1763His) http://identifiers.org/clinvar/227885 ^@ NM_002834.4(PTPN11):c.831T>C (p.Asn277=) http://identifiers.org/clinvar/228285 ^@ NM_173591.3(OTOGL):c.814_815delAT (p.Met272Valfs) http://identifiers.org/clinvar/228385 ^@ NM_173591.3(OTOGL):c.948delG (p.Leu316Phefs) http://identifiers.org/clinvar/228885 ^@ NM_002471.3(MYH6):c.1154C>T (p.Ser385Leu) http://identifiers.org/clinvar/227985 ^@ NM_001199107.1(TBC1D24):c.90T>C (p.Thr30=) http://identifiers.org/clinvar/228335 ^@ NM_023036.4(DNAI2):c.1304G>A (p.Trp435Ter) http://identifiers.org/clinvar/228835 ^@ NM_144612.6(LOXHD1):c.6043A>T (p.Ile2015Phe) http://identifiers.org/clinvar/228035 ^@ NM_001039141.2(TRIOBP):c.5378A>C (p.Glu1793Ala) http://identifiers.org/clinvar/228785 ^@ NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del (p.(?)) http://identifiers.org/clinvar/228585 ^@ NM_004006.2(DMD):c.32-14A>G http://identifiers.org/clinvar/234692 ^@ NM_020631.4(PLEKHG5):c.2458G>A (p.Gly820Ser) http://identifiers.org/clinvar/234893 ^@ NM_002977.3(SCN9A):c.1660C>A (p.Leu554Ile) http://identifiers.org/clinvar/234592 ^@ NM_000249.3(MLH1):c.404T>C (p.Leu135Pro) http://identifiers.org/clinvar/234742 ^@ NM_001065.3(TNFRSF1A):c.1058-6C>G http://identifiers.org/clinvar/234792 ^@ NM_000059.3(BRCA2):c.9517_9518insTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT (p.Cys3173Phefs) http://identifiers.org/clinvar/234642 ^@ NM_032043.2(BRIP1):c.143C>A (p.Thr48Lys) http://identifiers.org/clinvar/234843 ^@ NM_014646.2(LPIN2):c.959C>T (p.Thr320Ile) http://identifiers.org/clinvar/229976 ^@ NM_000465.3(BARD1):c.439T>A (p.Phe147Ile) http://identifiers.org/clinvar/233266 ^@ NM_000251.2(MSH2):c.2584G>A (p.Gly862Arg) http://identifiers.org/clinvar/231026 ^@ NM_000249.3(MLH1):c.1043T>C (p.Leu348Ser) http://identifiers.org/clinvar/230876 ^@ NM_000249.3(MLH1):c.1522_1523delAG (p.Leu509Profs) http://identifiers.org/clinvar/233316 ^@ NM_000249.3(MLH1):c.1559-3C>T http://identifiers.org/clinvar/233768 ^@ NM_000038.5(APC):c.2546A>G (p.Asp849Gly) http://identifiers.org/clinvar/264101 ^@ NM_030777.3(SLC2A10):c.581C>T (p.Thr194Ile) http://identifiers.org/clinvar/263851 ^@ NM_000071.2(CBS):c.441C>T (p.Ser147=) http://identifiers.org/clinvar/263801 ^@ NM_004006.2(DMD):c.1704+3G>A http://identifiers.org/clinvar/264201 ^@ NM_004006.2(DMD):c.694A>C (p.Ile232Leu) http://identifiers.org/clinvar/265537 ^@ NM_002016.1(FLG):c.2929C>T (p.Gln977Ter) http://identifiers.org/clinvar/265287 ^@ NM_206933.2(USH2A):c.5836C>T (p.Arg1946Ter) http://identifiers.org/clinvar/265437 ^@ NM_001256850.1(TTN):c.76114C>T (p.Arg25372Ter) http://identifiers.org/clinvar/265487 ^@ NM_003494.3(DYSF):c.1129C>T (p.Arg377Ter) http://identifiers.org/clinvar/265183 ^@ NM_000168.5(GLI3):c.4606T>A (p.Ser1536Thr) http://identifiers.org/clinvar/265387 ^@ NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser) http://identifiers.org/clinvar/265638 ^@ NM_017780.3(CHD7):c.6613C>T (p.Gln2205Ter) http://identifiers.org/clinvar/265236 ^@ NM_130799.2(MEN1):c.668T>C (p.Leu223Pro) http://identifiers.org/clinvar/265688 ^@ NM_001193466.1(KANSL1):c.1532delT (p.Leu511Terfs) http://identifiers.org/clinvar/265337 ^@ NM_000546.5(TP53):c.643A>G (p.Ser215Gly) http://identifiers.org/clinvar/265588 ^@ NM_007194.3(CHEK2):c.629_632delCAGT (p.Ser210Phefs) http://identifiers.org/clinvar/265774 ^@ NM_138927.2(SON):c.5549_5550delGA (p.Arg1850Ilefs) http://identifiers.org/clinvar/265927 ^@ NM_174936.3(PCSK9):c.657+107C>T http://identifiers.org/clinvar/265877 ^@ NM_000384.2(APOB):c.905-16A>C http://identifiers.org/clinvar/265982 ^@ NM_000186.3(CFH):c.2950T>C (p.Cys984Arg) http://identifiers.org/clinvar/266033 ^@ NM_013275.5(ANKRD11):c.2408_2412delAAAAA (p.Lys803Argfs) http://identifiers.org/clinvar/266109 ^@ NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs) http://identifiers.org/clinvar/266509 ^@ NM_007294.3(BRCA1):c.5013dupA (p.His1672Thrfs) http://identifiers.org/clinvar/266459 ^@ NM_007294.3(BRCA1):c.4216A>T (p.Lys1406Ter) http://identifiers.org/clinvar/266409 ^@ NM_007294.3(BRCA1):c.3839_3843delCTCAG (p.Ser1280Terfs) http://identifiers.org/clinvar/266309 ^@ NM_007294.3(BRCA1):c.2850dupT (p.Arg951Terfs) http://identifiers.org/clinvar/266259 ^@ NM_007294.3(BRCA1):c.2398_2411delAAATGTGTGAGTCA (p.Lys800Valfs) http://identifiers.org/clinvar/266209 ^@ NM_007294.3(BRCA1):c.2012dupG (p.Lys672Terfs) http://identifiers.org/clinvar/266159 ^@ NM_007294.3(BRCA1):c.1347delC (p.Lys450Asnfs) http://identifiers.org/clinvar/266359 ^@ NM_007294.3(BRCA1):c.335delA (p.Asn112Ilefs) http://identifiers.org/clinvar/267655 ^@ NM_000059.3(BRCA2):c.67+1154_316+2261del http://identifiers.org/clinvar/267505 ^@ NM_007294.3(BRCA1):c.135-?_547+?dup http://identifiers.org/clinvar/267605 ^@ NM_007294.3(BRCA1):c.5468-11_5520dup http://identifiers.org/clinvar/267555 ^@ NM_007294.3(BRCA1):c.4675+2T>C http://identifiers.org/clinvar/267985 ^@ 46;XY;inv(9)(p21.2p22.1) http://identifiers.org/clinvar/268035 ^@ 46;XX;t(19;21)(q13.3;q22.3)dn http://identifiers.org/clinvar/268099 ^@ NM_006578.3(GNB5):c.994C>T (p.Arg332Ter) http://identifiers.org/clinvar/268155 ^@ NM_001005463.2(EBF3):c.488G>T (p.Arg163Leu) http://identifiers.org/clinvar/279900 ^@ NM_003126.2(SPTA1):c.5950A>T (p.Arg1984Ter) http://identifiers.org/clinvar/290888 ^@ NM_007075.3(WDR45):c.939C>T (p.Phe313=) http://identifiers.org/clinvar/290938 ^@ NM_004369.3(COL6A3):c.6210+5G>T http://identifiers.org/clinvar/290988 ^@ NM_206933.2(USH2A):c.3317-8C>A http://identifiers.org/clinvar/291038 ^@ NM_006031.5(PCNT):c.1246A>G (p.Ile416Val) http://identifiers.org/clinvar/291138 ^@ NM_173591.3(OTOGL):c.3186+1G>A http://identifiers.org/clinvar/291189 ^@ NM_000463.2(UGT1A1):c.137C>T (p.Ala46Val) http://identifiers.org/clinvar/291239 ^@ NM_001127464.2(ZNF469):c.6360delG (p.Gln2121Serfs) http://identifiers.org/clinvar/291289 ^@ NM_003742.2(ABCB11):c.1297C>G (p.Pro433Ala) http://identifiers.org/clinvar/291404 ^@ NM_001918.3(DBT):c.*5546G>A http://identifiers.org/clinvar/291454 ^@ NM_001918.3(DBT):c.1111G>A (p.Ala371Thr) http://identifiers.org/clinvar/291504 ^@ NM_001854.3(COL11A1):c.4303-13delT http://identifiers.org/clinvar/294595 ^@ NM_018136.4(ASPM):c.10096G>A (p.Gly3366Arg) http://identifiers.org/clinvar/294695 ^@ NM_201253.2(CRB1):c.*393T>C http://identifiers.org/clinvar/294895 ^@ NM_001001430.2(TNNT2):c.661A>G (p.Ile221Val) http://identifiers.org/clinvar/294945 ^@ NM_003465.2(CHIT1):c.-40G>A http://identifiers.org/clinvar/295145 ^@ NM_000228.2(LAMB3):c.225_226delCA (p.His75Glnfs) http://identifiers.org/clinvar/343337 ^@ NM_014382.3(ATP2C1):c.*343T>A http://identifiers.org/clinvar/343587 ^@ NM_001184.3(ATR):c.6226C>G (p.Leu2076Val) http://identifiers.org/clinvar/343987 ^@ NM_020800.2(IFT80):c.-183C>T http://identifiers.org/clinvar/344037 ^@ NM_001041.3(SI):c.2789A>G (p.Gln930Arg) http://identifiers.org/clinvar/337047 ^@ NM_080916.2(DGUOK):c.568A>T (p.Ile190Phe) http://identifiers.org/clinvar/337097 ^@ NM_004082.4(DCTN1):c.60G>A (p.Ala20=) http://identifiers.org/clinvar/345726 ^@ NM_002222.5(ITPR1):c.3385A>G (p.Met1129Val) http://identifiers.org/clinvar/337297 ^@ NM_198843.2(SFTPB):c.*362A>C http://identifiers.org/clinvar/345926 ^@ NM_002222.5(ITPR1):c.*1481delG http://identifiers.org/clinvar/345876 ^@ NM_000094.3(COL7A1):c.1468G>A (p.Gly490Ser) http://identifiers.org/clinvar/345976 ^@ NM_002292.3(LAMB2):c.5021G>A (p.Arg1674Gln) http://identifiers.org/clinvar/337447 ^@ NM_017849.3(TMEM127):c.*3348G>C http://identifiers.org/clinvar/337597 ^@ NM_020184.3(CNNM4):c.*203delA http://identifiers.org/clinvar/337497 ^@ NM_017849.3(TMEM127):c.*338G>A http://identifiers.org/clinvar/346426 ^@ NM_198859.3(PRICKLE2):c.*3864T>C http://identifiers.org/clinvar/346876 ^@ NM_000313.3(PROS1):c.*197C>T http://identifiers.org/clinvar/345676 ^@ NM_015175.2(NBEAL2):c.5769G>A (p.Ser1923=) http://identifiers.org/clinvar/345826 ^@ NM_000094.3(COL7A1):c.5988C>T (p.Ile1996=) http://identifiers.org/clinvar/342787 ^@ NM_001023570.3(IQCB1):c.-178C>T http://identifiers.org/clinvar/346126 ^@ NM_004656.3(BAP1):c.74A>G (p.Lys25Arg) http://identifiers.org/clinvar/343087 ^@ NM_025265.3(TSEN2):c.*419A>G http://identifiers.org/clinvar/347615 ^@ NM_172250.2(MMAA):c.*306T>A http://identifiers.org/clinvar/347665 ^@ NM_172250.2(MMAA):c.*3621G>A http://identifiers.org/clinvar/347865 ^@ NM_004744.4(LRAT):c.*1338T>G http://identifiers.org/clinvar/343487 ^@ NM_020191.2(MRPS22):c.648+19delT http://identifiers.org/clinvar/343537 ^@ NM_024334.2(TMEM43):c.*1452C>A http://identifiers.org/clinvar/346476 ^@ NM_198859.3(PRICKLE2):c.690C>T (p.Gly230=) http://identifiers.org/clinvar/346526 ^@ NM_000248.3(MITF):c.*1869G>T http://identifiers.org/clinvar/346626 ^@ NM_032682.5(FOXP1):c.*596delC http://identifiers.org/clinvar/348165 ^@ NM_000320.2(QDPR):c.-81delC http://identifiers.org/clinvar/348315 ^@ NM_207352.3(CYP4V2):c.1536C>T (p.Gly512=) http://identifiers.org/clinvar/343787 ^@ NM_000096.3(CP):c.347C>A (p.Pro116His) http://identifiers.org/clinvar/343837 ^@ NM_005677.3(COLQ):c.*425C>T http://identifiers.org/clinvar/348365 ^@ NM_207352.3(CYP4V2):c.*2622A>T http://identifiers.org/clinvar/346826 ^@ NM_014043.3(CHMP2B):c.*1589G>A http://identifiers.org/clinvar/358482 ^@ NM_006348.3(COG5):c.-56G>A http://identifiers.org/clinvar/354253 ^@ NM_003664.4(AP3B1):c.280-6dupT http://identifiers.org/clinvar/358532 ^@ NM_000111.2(SLC26A3):c.*196T>C http://identifiers.org/clinvar/354153 ^@ NM_003719.3(PDE8B):c.591-7A>G http://identifiers.org/clinvar/354353 ^@ NM_002454.2(MTRR):c.540G>A (p.Val180=) http://identifiers.org/clinvar/358982 ^@ NM_005989.3(AKR1D1):c.*1173A>T http://identifiers.org/clinvar/354653 ^@ NM_000439.4(PCSK1):c.284G>A (p.Arg95His) http://identifiers.org/clinvar/359182 ^@ NM_014141.5(CNTNAP2):c.983G>A (p.Ser328Asn) http://identifiers.org/clinvar/354703 ^@ NM_001491.2(GCNT2):c.330G>A (p.Arg110=) http://identifiers.org/clinvar/354753 ^@ NM_020381.3(PDSS2):c.*1219A>G http://identifiers.org/clinvar/359332 ^@ NM_016203.3(PRKAG2):c.*614A>T http://identifiers.org/clinvar/363170 ^@ NM_152419.2(HGSNAT):c.*1378C>T http://identifiers.org/clinvar/359382 ^@ NM_022458.3(LMBR1):c.*2489T>C http://identifiers.org/clinvar/363270 ^@ NM_003068.4(SNAI2):c.-36T>A http://identifiers.org/clinvar/363320 ^@ NM_017813.4(IMPAD1):c.*5821C>T http://identifiers.org/clinvar/359482 ^@ NM_001101426.3(ISPD):c.*4116A>G http://identifiers.org/clinvar/354803 ^@ NM_001242957.2(MAK):c.787G>A (p.Glu263Lys) http://identifiers.org/clinvar/363520 ^@ NM_024596.4(MCPH1):c.437-15T>C http://identifiers.org/clinvar/363770 ^@ NM_000318.2(PEX2):c.*2894T>C http://identifiers.org/clinvar/361071 ^@ NM_017890.4(VPS13B):c.6751C>T (p.His2251Tyr) http://identifiers.org/clinvar/364320 ^@ NM_005502.3(ABCA1):c.*3254T>C http://identifiers.org/clinvar/360371 ^@ NM_014855.2(AP5Z1):c.*953T>C http://identifiers.org/clinvar/355693 ^@ NM_203395.2(IYD):c.*479C>T http://identifiers.org/clinvar/360521 ^@ NM_004577.3(PSPH):c.-235_-213del23insC http://identifiers.org/clinvar/355793 ^@ NM_033071.3(SYNE1):c.*750G>T http://identifiers.org/clinvar/356093 ^@ NM_000367.4(TPMT):c.*1590T>C http://identifiers.org/clinvar/360621 ^@ NM_153033.4(KCTD7):c.*2746G>C http://identifiers.org/clinvar/355893 ^@ NM_033071.3(SYNE1):c.9918G>T (p.Ala3306=) http://identifiers.org/clinvar/360671 ^@ NM_000501.3(ELN):c.*501_*502insA http://identifiers.org/clinvar/356193 ^@ NM_001080.3(ALDH5A1):c.*3277C>T http://identifiers.org/clinvar/356043 ^@ NM_003730.4(RNASET2):c.-77delG http://identifiers.org/clinvar/356343 ^@ NM_006929.4(SKIV2L):c.2764C>G (p.Pro922Ala) http://identifiers.org/clinvar/356293 ^@ NM_001710.5(CFB):c.1778+9G>A http://identifiers.org/clinvar/361221 ^@ NM_178857.5(RP1L1):c.6522A>G (p.Gln2174=) http://identifiers.org/clinvar/356543 ^@ NM_182548.3(LHFPL5):c.*514T>A http://identifiers.org/clinvar/361271 ^@ NM_178857.5(RP1L1):c.4620G>C (p.Glu1540Asp) http://identifiers.org/clinvar/361321 ^@ NM_178857.5(RP1L1):c.3027G>A (p.Ala1009=) http://identifiers.org/clinvar/356693 ^@ NM_000409.4(GUCA1A):c.*76C>A http://identifiers.org/clinvar/356943 ^@ NM_006502.2(POLH):c.*1563dupA http://identifiers.org/clinvar/311310 ^@ NM_021954.3(GJA3):c.*1232T>C http://identifiers.org/clinvar/311460 ^@ NM_002010.2(FGF9):c.*1741C>T http://identifiers.org/clinvar/367399 ^@ NM_033305.2(VPS13A):c.6378+15A>T http://identifiers.org/clinvar/367449 ^@ NM_033305.2(VPS13A):c.*1378C>A http://identifiers.org/clinvar/303651 ^@ NM_000890.3(KCNJ5):c.*896_*905delGTTTTGTTTT http://identifiers.org/clinvar/303751 ^@ NM_000352.4(ABCC8):c.4239G>T (p.Pro1413=) http://identifiers.org/clinvar/303851 ^@ NM_181507.1(HPS5):c.*956T>G http://identifiers.org/clinvar/304101 ^@ NM_213599.2(ANO5):c.1277T>C (p.Leu426Pro) http://identifiers.org/clinvar/304201 ^@ NM_022725.3(FANCF):c.860A>G (p.Tyr287Cys) http://identifiers.org/clinvar/304301 ^@ NM_000280.4(PAX6):c.*3958G>A http://identifiers.org/clinvar/304351 ^@ NM_000280.4(PAX6):c.*335T>C http://identifiers.org/clinvar/304401 ^@ NM_024426.4(WT1):c.*542G>A http://identifiers.org/clinvar/364120 ^@ NM_004612.3(TGFBR1):c.*1515G>A http://identifiers.org/clinvar/298923 ^@ NM_004132.4(HABP2):c.*235C>T http://identifiers.org/clinvar/313249 ^@ NM_002408.3(MGAT2):c.-234T>C http://identifiers.org/clinvar/299423 ^@ NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) http://identifiers.org/clinvar/299023 ^@ NM_000141.4(FGFR2):c.-371C>T http://identifiers.org/clinvar/313799 ^@ NM_002382.4(MAX):c.*610_*611delCA http://identifiers.org/clinvar/299523 ^@ NM_001081.3(CUBN):c.1653C>T (p.Ser551=) http://identifiers.org/clinvar/313849 ^@ NM_015346.3(ZFYVE26):c.*1768C>T http://identifiers.org/clinvar/313899 ^@ NM_015346.3(ZFYVE26):c.4072C>T (p.Arg1358Cys) http://identifiers.org/clinvar/299173 ^@ NM_000274.3(OAT):c.123T>C (p.Asp41=) http://identifiers.org/clinvar/299223 ^@ NM_021980.4(OPTN):c.1612+10G>A http://identifiers.org/clinvar/314149 ^@ NM_031427.3(DNAL1):c.*7350C>T http://identifiers.org/clinvar/299273 ^@ NM_001033855.2(DCLRE1C):c.*1276C>G http://identifiers.org/clinvar/299873 ^@ NM_021252.4(RAB18):c.*3559C>T http://identifiers.org/clinvar/299373 ^@ NM_001081.3(CUBN):c.9843A>G (p.Thr3281=) http://identifiers.org/clinvar/299973 ^@ NM_002900.2(RBP3):c.1933C>T (p.His645Tyr) http://identifiers.org/clinvar/300073 ^@ NM_000124.3(ERCC6):c.2125G>A (p.Val709Ile) http://identifiers.org/clinvar/300173 ^@ NM_033056.3(PCDH15):c.5177C>T (p.Thr1726Ile) http://identifiers.org/clinvar/299923 ^@ NM_020975.4(RET):c.*1103C>T http://identifiers.org/clinvar/306377 ^@ NM_012193.3(FZD4):c.*2302A>G http://identifiers.org/clinvar/306477 ^@ NM_005591.3(MRE11):c.*650_*659dupTCTCTCTCTC http://identifiers.org/clinvar/311060 ^@ NM_001845.5(COL4A1):c.2007C>T (p.Pro669=) http://identifiers.org/clinvar/310355 ^@ NM_000239.2(LYZ):c.*890T>C http://identifiers.org/clinvar/310555 ^@ NM_020661.3(AICDA):c.*1206C>T http://identifiers.org/clinvar/312060 ^@ NM_207361.5(FREM2):c.*1706C>A http://identifiers.org/clinvar/337747 ^@ NM_000214.2(JAG1):c.3297G>A (p.Pro1099=) http://identifiers.org/clinvar/306677 ^@ NM_018979.3(WNK1):c.*642G>A http://identifiers.org/clinvar/337847 ^@ NM_024411.4(PDYN):c.-382C>T http://identifiers.org/clinvar/310860 ^@ NM_004115.3(FGF14):c.*1761G>C http://identifiers.org/clinvar/319541 ^@ NM_015247.2(CYLD):c.*2615A>G http://identifiers.org/clinvar/319591 ^@ NM_002968.2(SALL1):c.*192T>C http://identifiers.org/clinvar/311110 ^@ NM_001846.3(COL4A2):c.732C>T (p.Asp244=) http://identifiers.org/clinvar/311260 ^@ NM_000131.4(F7):c.*1240C>G http://identifiers.org/clinvar/319841 ^@ NM_001043.3(SLC6A2):c.*1262G>A http://identifiers.org/clinvar/311360 ^@ NM_004004.5(GJB2):c.*979A>G http://identifiers.org/clinvar/311510 ^@ NM_014363.5(SACS):c.10699G>A (p.Glu3567Lys) http://identifiers.org/clinvar/311610 ^@ NM_018451.4(CENPJ):c.3618+7T>C http://identifiers.org/clinvar/313099 ^@ NM_020529.2(NFKBIA):c.*421G>A http://identifiers.org/clinvar/311660 ^@ NM_000059.3(BRCA2):c.561G>A (p.Glu187=) http://identifiers.org/clinvar/312010 ^@ NM_207361.5(FREM2):c.6606G>A (p.Glu2202=) http://identifiers.org/clinvar/321080 ^@ NM_020686.5(ABAT):c.864C>T (p.Ala288=) http://identifiers.org/clinvar/313649 ^@ NM_182914.2(SYNE2):c.19194C>T (p.Ala6398=) http://identifiers.org/clinvar/320980 ^@ NM_001127464.2(ZNF469):c.7983G>A (p.Gly2661=) http://identifiers.org/clinvar/313749 ^@ NM_000347.5(SPTB):c.2250C>T (p.Gly750=) http://identifiers.org/clinvar/313949 ^@ NM_000021.3(PSEN1):c.1248+8T>C http://identifiers.org/clinvar/340087 ^@ NM_000071.2(CBS):c.600G>A (p.Pro200=) http://identifiers.org/clinvar/321530 ^@ NM_000833.4(GRIN2A):c.*5447G>T http://identifiers.org/clinvar/340237 ^@ NM_130445.3(COL18A1):c.2148G>A (p.Ser716=) http://identifiers.org/clinvar/321684 ^@ NM_017534.5(MYH2):c.2396G>C (p.Arg799Thr) http://identifiers.org/clinvar/340287 ^@ NM_130445.3(COL18A1):c.*484C>T http://identifiers.org/clinvar/314249 ^@ NM_000428.2(LTBP2):c.*1518_*1520dupGTT http://identifiers.org/clinvar/326422 ^@ NM_177986.4(DSG4):c.587A>G (p.Tyr196Cys) http://identifiers.org/clinvar/326722 ^@ NM_015559.2(SETBP1):c.-21C>T http://identifiers.org/clinvar/327122 ^@ NM_005359.5(SMAD4):c.*1067G>A http://identifiers.org/clinvar/327222 ^@ NM_001083962.1(TCF4):c.*5503T>C http://identifiers.org/clinvar/327372 ^@ NM_000140.3(FECH):c.*2599C>T http://identifiers.org/clinvar/328261 ^@ NM_000528.3(MAN2B1):c.2267+3G>C http://identifiers.org/clinvar/337797 ^@ NM_006363.4(SEC23B):c.1512T>C (p.Asn504=) http://identifiers.org/clinvar/337897 ^@ NM_000361.2(THBD):c.-58G>C http://identifiers.org/clinvar/337997 ^@ NM_001042472.2(ABHD12):c.203T>C (p.Val68Ala) http://identifiers.org/clinvar/338097 ^@ NM_015338.5(ASXL1):c.2419G>A (p.Val807Ile) http://identifiers.org/clinvar/337697 ^@ NM_018848.3(MKKS):c.-58T>C http://identifiers.org/clinvar/339887 ^@ NM_144492.2(CLDN14):c.535A>G (p.Thr179Ala) http://identifiers.org/clinvar/340037 ^@ NM_020639.2(RIPK4):c.35C>G (p.Ala12Gly) http://identifiers.org/clinvar/337947 ^@ NM_014588.5(VSX1):c.*506T>C http://identifiers.org/clinvar/340137 ^@ NM_000211.4(ITGB2):c.2310G>A (p.Ter770=) http://identifiers.org/clinvar/338197 ^@ NM_006892.3(DNMT3B):c.*827A>G http://identifiers.org/clinvar/339937 ^@ NM_000411.6(HLCS):c.*1614dupA http://identifiers.org/clinvar/377792 ^@ NM_203447.3(DOCK8):c.156+1383T>C http://identifiers.org/clinvar/384650 ^@ NM_020822.2(KCNT1):c.2136C>T (p.Pro712=) http://identifiers.org/clinvar/377842 ^@ NM_000136.2(FANCC):c.543G>A (p.Ala181=) http://identifiers.org/clinvar/391467 ^@ NM_001134363.2(RBM20):c.3084G>A (p.Glu1028=) http://identifiers.org/clinvar/387389 ^@ NM_004517.3(ILK):c.1296C>T (p.Asp432=) http://identifiers.org/clinvar/392417 ^@ NM_002860.3(ALDH18A1):c.1598T>G (p.Val533Gly) http://identifiers.org/clinvar/390028 ^@ NM_032578.3(MYPN):c.1317+7A>C http://identifiers.org/clinvar/387739 ^@ NM_006904.6(PRKDC):c.-29G>A http://identifiers.org/clinvar/387939 ^@ NM_052968.4(APOA5):c.118A>G (p.Arg40Gly) http://identifiers.org/clinvar/389328 ^@ NM_000051.3(ATM):c.2115C>G (p.Tyr705Ter) http://identifiers.org/clinvar/387789 ^@ NM_003640.4(IKBKAP):c.3636G>A (p.Pro1212=) http://identifiers.org/clinvar/384950 ^@ NM_001130438.2(SPTAN1):c.6303C>T (p.Phe2101=) http://identifiers.org/clinvar/384149 ^@ NM_000391.3(TPP1):c.645C>T (p.Asp215=) http://identifiers.org/clinvar/380653 ^@ NM_007103.3(NDUFV1):c.831C>T (p.Asn277=) http://identifiers.org/clinvar/377892 ^@ NM_016725.2(FOLR1):c.396G>A (p.Val132=) http://identifiers.org/clinvar/389928 ^@ NM_002180.2(IGHMBP2):c.2612-13G>A http://identifiers.org/clinvar/386939 ^@ NM_006231.3(POLE):c.6057T>C (p.Ala2019=) http://identifiers.org/clinvar/389378 ^@ NM_006231.3(POLE):c.3777C>T (p.Pro1259=) http://identifiers.org/clinvar/392267 ^@ NM_000059.3(BRCA2):c.10235T>G (p.Ile3412Ser) http://identifiers.org/clinvar/377692 ^@ NM_006493.2(CLN5):c.834C>T (p.Tyr278=) http://identifiers.org/clinvar/381555 ^@ NM_000077.4(CDKN2A):c.-19370C>G http://identifiers.org/clinvar/391967 ^@ NM_006231.3(POLE):c.4357A>C (p.Arg1453=) http://identifiers.org/clinvar/390078 ^@ NM_001126106.2(SLC7A7):c.681C>T (p.Asp227=) http://identifiers.org/clinvar/384249 ^@ NM_021957.3(GYS2):c.1710T>C (p.Phe570=) http://identifiers.org/clinvar/380553 ^@ NM_004990.3(MARS):c.2180G>A (p.Arg727Gln) http://identifiers.org/clinvar/388878 ^@ NM_177438.2(DICER1):c.*20A>G http://identifiers.org/clinvar/383999 ^@ NM_153026.2(PRICKLE1):c.1563G>A (p.Leu521=) http://identifiers.org/clinvar/391617 ^@ NM_025114.3(CEP290):c.6882T>C (p.Thr2294=) http://identifiers.org/clinvar/386739 ^@ NM_014191.3(SCN8A):c.4350C>T (p.Phe1450=) http://identifiers.org/clinvar/392067 ^@ NM_020987.4(ANK3):c.12436G>A (p.Gly4146Arg) http://identifiers.org/clinvar/386839 ^@ NM_032578.3(MYPN):c.2169G>T (p.Pro723=) http://identifiers.org/clinvar/381806 ^@ NM_007055.3(POLR3A):c.2741G>A (p.Gly914Glu) http://identifiers.org/clinvar/392217 ^@ NM_001376.4(DYNC1H1):c.12849G>A (p.Lys4283=) http://identifiers.org/clinvar/392517 ^@ NM_020778.4(ALPK3):c.3255G>A (p.Pro1085=) http://identifiers.org/clinvar/388928 ^@ NM_013227.3(ACAN):c.898G>A (p.Gly300Ser) http://identifiers.org/clinvar/384349 ^@ NM_000059.3(BRCA2):c.10179A>G (p.Glu3393=) http://identifiers.org/clinvar/380854 ^@ NM_000051.3(ATM):c.8850+8A>G http://identifiers.org/clinvar/381405 ^@ NM_001004127.2(ALG11):c.1032T>G (p.Gly344=) http://identifiers.org/clinvar/383498 ^@ NM_000138.4(FBN1):c.7743C>T (p.Cys2581=) http://identifiers.org/clinvar/389478 ^@ NM_005609.3(PYGM):c.120C>T (p.Leu40=) http://identifiers.org/clinvar/392117 ^@ NM_153603.3(COG7):c.687+7A>C http://identifiers.org/clinvar/392567 ^@ NM_000161.2(GCH1):c.153C>A (p.Asp51Glu) http://identifiers.org/clinvar/377742 ^@ NM_182476.2(COQ6):c.453T>C (p.Ala151=) http://identifiers.org/clinvar/387889 ^@ NM_005902.3(SMAD3):c.483C>T (p.Pro161=) http://identifiers.org/clinvar/383448 ^@ NM_004863.3(SPTLC2):c.756+17T>G http://identifiers.org/clinvar/387289 ^@ NM_001101362.2(KBTBD13):c.963G>A (p.Val321=) http://identifiers.org/clinvar/389628 ^@ NM_020778.4(ALPK3):c.1490A>G (p.Tyr497Cys) http://identifiers.org/clinvar/48006 ^@ NM_153676.3(USH1C):c.2490+12G>C http://identifiers.org/clinvar/48056 ^@ NM_170707.3(LMNA):c.1912G>A (p.Gly638Arg) http://identifiers.org/clinvar/48106 ^@ NM_000503.5(EYA1):c.1748T>C (p.Leu583Pro) http://identifiers.org/clinvar/48156 ^@ NM_178335.2(CCDC50):c.651T>C (p.His217=) http://identifiers.org/clinvar/48206 ^@ NM_194248.2(OTOF):c.2829C>T (p.Gly943=) http://identifiers.org/clinvar/48256 ^@ NM_194248.2(OTOF):c.5193-1G>A http://identifiers.org/clinvar/48306 ^@ NM_198056.2(SCN5A):c.53G>A (p.Arg18Gln) http://identifiers.org/clinvar/48357 ^@ NM_206933.2(USH2A):c.10759C>T (p.Gln3587Ter) http://identifiers.org/clinvar/48407 ^@ NM_206933.2(USH2A):c.12743A>G (p.His4248Arg) http://identifiers.org/clinvar/48457 ^@ NM_206933.2(USH2A):c.15144G>A (p.Ala5048=) http://identifiers.org/clinvar/48508 ^@ NM_206933.2(USH2A):c.3812-8T>G http://identifiers.org/clinvar/17 ^@ NM_000410.3(HFE):c.381A>C (p.Gln127His) http://identifiers.org/clinvar/79 ^@ LIPA, 934G-A http://identifiers.org/clinvar/156 ^@ NM_000274.3(OAT):c.1205T>C (p.Leu402Pro) http://identifiers.org/clinvar/358 ^@ NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) http://identifiers.org/clinvar/386 ^@ NM_000308.3(CTSA):c.1271T>C (p.Met424Thr) http://identifiers.org/clinvar/499 ^@ NM_173560.3(RFX6):c.649T>C (p.Ser217Pro) http://identifiers.org/clinvar/508 ^@ NM_020475.2(ANK1):c.-73_-72delTG http://identifiers.org/clinvar/531 ^@ DCAF17, 1-BP DEL, 50C http://identifiers.org/clinvar/545 ^@ NM_001145308.4(LRTOMT):c.328G>A (p.Glu110Lys) http://identifiers.org/clinvar/577 ^@ NM_000277.1(PAH):c.1222C>T (p.Arg408Trp) http://identifiers.org/clinvar/831 ^@ NM_000038.5(APC):c.937_938delGA (p.Glu313Asnfs) http://identifiers.org/clinvar/1105 ^@ AGL, IVS33DS, G-A, +5 http://identifiers.org/clinvar/1114 ^@ NM_025137.3(SPG11):c.442+1G>C http://identifiers.org/clinvar/1147 ^@ NM_001178007.1(BBS12):c.1063C>T (p.Arg355Ter) http://identifiers.org/clinvar/1192 ^@ NM_001029871.3(RSPO4):c.353G>A (p.Cys118Tyr) http://identifiers.org/clinvar/1237 ^@ NM_152419.2(HGSNAT):c.1030C>T (p.Arg344Cys) http://identifiers.org/clinvar/1288 ^@ NM_145167.2(PIGM):c.-270C>G http://identifiers.org/clinvar/1332 ^@ NM_024685.3(BBS10):c.32T>G (p.Val11Gly) http://identifiers.org/clinvar/1378 ^@ NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr) http://identifiers.org/clinvar/1423 ^@ NM_015506.2(MMACHC):c.394C>T (p.Arg132Ter) http://identifiers.org/clinvar/1469 ^@ NM_000190.3(HMBS):c.739T>C (p.Cys247Arg) http://identifiers.org/clinvar/1514 ^@ NM_000298.5(PKLR):c.389C>A (p.Ser130Tyr) http://identifiers.org/clinvar/1604 ^@ RSPO1, EX4 DEL http://identifiers.org/clinvar/38798 ^@ NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu) http://identifiers.org/clinvar/1654 ^@ NM_014043.3(CHMP2B):c.618A>C (p.Gln206His) http://identifiers.org/clinvar/1746 ^@ NM_005142.2(GIF):c.137C>T (p.Ser46Leu) http://identifiers.org/clinvar/1796 ^@ NM_000102.3(CYP17A1):c.1084C>T (p.Arg362Cys) http://identifiers.org/clinvar/1840 ^@ MRAP, IVS3, T INS, +3 http://identifiers.org/clinvar/2696 ^@ NM_017436.5(A4GALT):c.240_242delCTT (p.Phe81del) http://identifiers.org/clinvar/2742 ^@ NM_004183.3(BEST1):c.949G>A (p.Val317Met) http://identifiers.org/clinvar/2788 ^@ NM_000158.3(GBE1):c.1883A>G (p.His628Arg) http://identifiers.org/clinvar/3063 ^@ NM_000487.5(ARSA):c.370G>A (p.Gly124Ser) http://identifiers.org/clinvar/3162 ^@ NM_173353.3(TPH2):c.1322G>A (p.Arg441His) http://identifiers.org/clinvar/3208 ^@ NM_001079802.1(FKTN):c.920G>A (p.Arg307Gln) http://identifiers.org/clinvar/3257 ^@ NM_016616.4(NME8):c.271-27C>T http://identifiers.org/clinvar/3301 ^@ LIPH, EX4 DEL http://identifiers.org/clinvar/3347 ^@ NM_000348.3(SRD5A2):c.145G>A (p.Ala49Thr) http://identifiers.org/clinvar/10146 ^@ NM_000132.3(F8):c.5167G>A (p.Glu1723Lys) http://identifiers.org/clinvar/10191 ^@ NM_000132.3(F8):c.896A>T (p.Asn299Ile) http://identifiers.org/clinvar/11004 ^@ OTC, 1-BP DEL, 403G http://identifiers.org/clinvar/11095 ^@ PLP1, IVS3DS, T-C, +2 http://identifiers.org/clinvar/11186 ^@ NM_139058.2(ARX):c.304_306GCG[17] (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/11230 ^@ NM_004006.2(DMD):c.503C>A (p.Ala168Asp) http://identifiers.org/clinvar/11276 ^@ NM_004006.2(DMD):c.10262C>T (p.Ala3421Val) http://identifiers.org/clinvar/11320 ^@ NM_004085.3(TIMM8A):c.70G>T (p.Glu24Ter) http://identifiers.org/clinvar/11367 ^@ NM_000061.2(BTK):c.919A>G (p.Arg307Gly) http://identifiers.org/clinvar/11677 ^@ POU3F4, ASP215TER http://identifiers.org/clinvar/11727 ^@ NM_000489.4(ATRX):c.6488A>G (p.Tyr2163Cys) http://identifiers.org/clinvar/12184 ^@ NM_001166120.1(HSD3B2):c.512G>A (p.Trp171Ter) http://identifiers.org/clinvar/12237 ^@ NM_004360.4(CDH1):c.2095C>T (p.Gln699Ter) http://identifiers.org/clinvar/12287 ^@ NM_000463.2(UGT1A1):c.44T>G (p.Leu15Arg) http://identifiers.org/clinvar/12339 ^@ NM_001065.3(TNFRSF1A):c.349T>C (p.Cys117Arg) http://identifiers.org/clinvar/12390 ^@ TNF, -863C-A http://identifiers.org/clinvar/12442 ^@ NM_003280.2(TNNC1):c.86T>A (p.Leu29Gln) http://identifiers.org/clinvar/12492 ^@ NM_000359.2(TGM1):c.832G>A (p.Gly278Arg) http://identifiers.org/clinvar/12542 ^@ NM_001128177.1(THRB):c.949G>A (p.Ala317Thr) http://identifiers.org/clinvar/12593 ^@ NM_033360.3(KRAS):c.37G>C (p.Gly13Arg) http://identifiers.org/clinvar/12643 ^@ HNF1B, IVS2DS, G-A, +1 http://identifiers.org/clinvar/12694 ^@ NM_003235.4(TG):c.5986T>A (p.Cys1996Ser) http://identifiers.org/clinvar/12745 ^@ NM_000733.3(CD3E):c.176G>A (p.Trp59Ter) http://identifiers.org/clinvar/12795 ^@ NM_004959.4(NR5A1):c.764G>T (p.Arg255Leu) http://identifiers.org/clinvar/12845 ^@ NM_003126.2(SPTA1):c.1412A>C (p.Gln471Pro) http://identifiers.org/clinvar/12896 ^@ NM_006920.4(SCN1A):c.434T>C (p.Met145Thr) http://identifiers.org/clinvar/12946 ^@ NM_000511.5(FUT2):c.418A>T (p.Ile140Phe) http://identifiers.org/clinvar/12997 ^@ ROM1, 1-BP INS, 80G http://identifiers.org/clinvar/13048 ^@ NM_000539.3(RHO):c.341G>A (p.Gly114Asp) http://identifiers.org/clinvar/13099 ^@ RLBP1, 324G-A http://identifiers.org/clinvar/13149 ^@ NM_000448.2(RAG1):c.2210G>A (p.Arg737His) http://identifiers.org/clinvar/13201 ^@ SFTPB, 2-BP INS, 375C-GAA http://identifiers.org/clinvar/13251 ^@ NM_002739.4(PRKCG):c.303C>G (p.His101Gln) http://identifiers.org/clinvar/13303 ^@ NM_000506.3(F2):c.940C>T (p.Arg314Cys) http://identifiers.org/clinvar/13353 ^@ NM_001035256.2(POMC):c.313G>T (p.Glu105Ter) http://identifiers.org/clinvar/13407 ^@ NM_000311.4(PRNP):c.547A>G (p.Thr183Ala) http://identifiers.org/clinvar/13458 ^@ NM_000371.3(TTR):c.371G>A (p.Arg124His) http://identifiers.org/clinvar/36684 ^@ NM_004572.3(PKP2):c.336+17T>G http://identifiers.org/clinvar/36737 ^@ NM_001035.2(RYR2):c.1863C>T (p.His621=) http://identifiers.org/clinvar/36788 ^@ NM_139276.2(STAT3):c.1772A>T (p.Lys591Met) http://identifiers.org/clinvar/36838 ^@ NM_000458.3(HNF1B):c.1045+12T>C http://identifiers.org/clinvar/36889 ^@ NM_000371.3(TTR):c.208A>C (p.Ser70Arg) http://identifiers.org/clinvar/36958 ^@ NM_002501.3(NFIX):c.1037dupT (p.Thr347Hisfs) http://identifiers.org/clinvar/37057 ^@ TCTN3, 4-BP DEL, NT650 http://identifiers.org/clinvar/37127 ^@ NM_004984.2(KIF5A):c.751G>A (p.Glu251Lys) http://identifiers.org/clinvar/37259 ^@ NM_003036.3(SKI):c.94C>G (p.Leu32Val) http://identifiers.org/clinvar/37414 ^@ NM_007294.3(BRCA1):c.1459G>T (p.Val487Phe) http://identifiers.org/clinvar/37466 ^@ NM_007294.3(BRCA1):c.2411_2412delAG (p.Gln804Leufs) http://identifiers.org/clinvar/37524 ^@ NM_007294.3(BRCA1):c.3352C>T (p.Gln1118Ter) http://identifiers.org/clinvar/37576 ^@ NM_007294.3(BRCA1):c.4219C>G (p.Leu1407Val) http://identifiers.org/clinvar/38746 ^@ c82-?_5058+?del http://identifiers.org/clinvar/38920 ^@ NM_001099274.1(TINF2):c.847C>T (p.Pro283Ser) http://identifiers.org/clinvar/39229 ^@ NM_198578.3(LRRK2):c.6566A>G (p.Tyr2189Cys) http://identifiers.org/clinvar/39280 ^@ NR_001566.1(TERC):n.100T>A http://identifiers.org/clinvar/39442 ^@ NR_023343.1(RNU4ATAC):n.66G>C http://identifiers.org/clinvar/39494 ^@ NG_032971.1:g.32476_53457del20982insAATTAAGGTATA http://identifiers.org/clinvar/39544 ^@ ALOX12B, IVS2, G-A, -1 http://identifiers.org/clinvar/39594 ^@ NM_020822.2(KCNT1):c.2800G>A (p.Ala934Thr) http://identifiers.org/clinvar/39646 ^@ NM_001015880.1(PAPSS2):c.661delA (p.Ile221Serfs) http://identifiers.org/clinvar/39698 ^@ NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu) http://identifiers.org/clinvar/39748 ^@ NM_015120.4(ALMS1):c.10945G>T (p.Glu3649Ter) http://identifiers.org/clinvar/39799 ^@ NM_021110.3(COL14A1):c.4505C>T (p.Pro1502Leu) http://identifiers.org/clinvar/39850 ^@ NM_001170961.1(IGSF1):c.2931G>A (p.Trp977Ter) http://identifiers.org/clinvar/40005 ^@ NM_012275.2(IL36RN):c.115+6T>C http://identifiers.org/clinvar/40287 ^@ NM_002335.3(LRP5):c.1655C>T (p.Thr552Met) http://identifiers.org/clinvar/40391 ^@ NM_004333.4(BRAF):c.1929A>G (p.Gly643=) http://identifiers.org/clinvar/40464 ^@ NM_004985.4(KRAS):c.451-9G>A http://identifiers.org/clinvar/40522 ^@ NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) http://identifiers.org/clinvar/40585 ^@ NM_002880.3(RAF1):c.119G>A (p.Arg40His) http://identifiers.org/clinvar/40646 ^@ NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) http://identifiers.org/clinvar/41008 ^@ NM_000399.4(EGR2):c.1142G>A (p.Arg381His) http://identifiers.org/clinvar/41065 ^@ NM_003611.2(OFD1):c.1193_1196delAATC (p.Gln398Leufs) http://identifiers.org/clinvar/41122 ^@ NM_003611.2(OFD1):c.431T>A (p.Leu144Ter) http://identifiers.org/clinvar/41174 ^@ NM_003977.3(AIP):c.308A>G (p.Lys103Arg) http://identifiers.org/clinvar/41231 ^@ NM_004862.3(LITAF):c.403C>T (p.Pro135Ser) http://identifiers.org/clinvar/51134 ^@ NM_000059.3(BRCA2):c.1496_1497delAG (p.Gln499Argfs) http://identifiers.org/clinvar/51185 ^@ NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) http://identifiers.org/clinvar/51237 ^@ NM_000059.3(BRCA2):c.2026delT (p.Cys676Valfs) http://identifiers.org/clinvar/51288 ^@ NM_000059.3(BRCA2):c.244A>T (p.Lys82Ter) http://identifiers.org/clinvar/51339 ^@ NM_000059.3(BRCA2):c.276dupA (p.Ser93Ilefs) http://identifiers.org/clinvar/51389 ^@ NM_000059.3(BRCA2):c.3051delC (p.Lys1018Serfs) http://identifiers.org/clinvar/51748 ^@ NM_000059.3(BRCA2):c.4952delC (p.Pro1651Leufs) http://identifiers.org/clinvar/51800 ^@ NM_000059.3(BRCA2):c.517-1G>A http://identifiers.org/clinvar/52811 ^@ NM_000059.3(BRCA2):c.9309A>G (p.Ile3103Met) http://identifiers.org/clinvar/52862 ^@ NM_000059.3(BRCA2):c.9513_9516delACTT (p.Leu3172Alafs) http://identifiers.org/clinvar/52912 ^@ NM_000059.3(BRCA2):c.9890C>G (p.Ala3297Gly) http://identifiers.org/clinvar/52962 ^@ NM_000218.2(KCNQ1):c.1124_1127delTTCA (p.Ile375Argfs) http://identifiers.org/clinvar/53012 ^@ NM_000218.2(KCNQ1):c.1719C>A (p.Phe573Leu) http://identifiers.org/clinvar/53062 ^@ NM_000218.2(KCNQ1):c.533delCinsGG (p.Ala178Glyfs) http://identifiers.org/clinvar/53112 ^@ NM_000218.2(KCNQ1):c.824_826delTCT (p.Phe275del) http://identifiers.org/clinvar/53164 ^@ NM_000492.3(CFTR):c.100_117del18 (p.Leu34_Gln39del) http://identifiers.org/clinvar/53216 ^@ NM_000492.3(CFTR):c.1209G>C (p.Glu403Asp) http://identifiers.org/clinvar/53268 ^@ NM_000492.3(CFTR):c.1495C>G (p.Pro499Ala) http://identifiers.org/clinvar/53319 ^@ NM_000492.3(CFTR):c.1650delA (p.Gly551Valfs) http://identifiers.org/clinvar/53369 ^@ NM_000492.3(CFTR):c.1744A>T (p.Thr582Ser) http://identifiers.org/clinvar/53419 ^@ NM_000492.3(CFTR):c.1981delA (p.Ile661Serfs) http://identifiers.org/clinvar/53473 ^@ NM_000492.3(CFTR):c.2324_2325delAC (p.His775Leufs) http://identifiers.org/clinvar/53524 ^@ NM_000492.3(CFTR):c.2619+2T>A http://identifiers.org/clinvar/53574 ^@ NM_000492.3(CFTR):c.2825delT (p.Ile942Thrfs) http://identifiers.org/clinvar/53625 ^@ NM_000492.3(CFTR):c.3008G>A (p.Gly1003Glu) http://identifiers.org/clinvar/53677 ^@ NM_000492.3(CFTR):c.3196C>A (p.Arg1066Ser) http://identifiers.org/clinvar/53727 ^@ NM_000492.3(CFTR):c.3368-1G>A http://identifiers.org/clinvar/53778 ^@ NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) http://identifiers.org/clinvar/53830 ^@ NM_000492.3(CFTR):c.3874-14C>G http://identifiers.org/clinvar/53882 ^@ NM_000492.3(CFTR):c.4071_4073delTAGinsAA (p.Arg1358Asnfs) http://identifiers.org/clinvar/53933 ^@ NM_000492.3(CFTR):c.4251delA (p.Glu1418Argfs) http://identifiers.org/clinvar/53983 ^@ NM_000492.3(CFTR):c.509G>A (p.Arg170His) http://identifiers.org/clinvar/54033 ^@ NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) http://identifiers.org/clinvar/54926 ^@ NM_007294.3(BRCA1):c.3587C>T (p.Thr1196Ile) http://identifiers.org/clinvar/54978 ^@ NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter) http://identifiers.org/clinvar/55029 ^@ NM_007294.3(BRCA1):c.3851A>G (p.His1284Arg) http://identifiers.org/clinvar/55079 ^@ NM_007294.3(BRCA1):c.4036_4038delGAA (p.Glu1346del) http://identifiers.org/clinvar/55383 ^@ NM_007294.3(BRCA1):c.5075A>T (p.Asp1692Val) http://identifiers.org/clinvar/55433 ^@ NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) http://identifiers.org/clinvar/55483 ^@ NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro) http://identifiers.org/clinvar/55536 ^@ NM_007294.3(BRCA1):c.5333-2A>T http://identifiers.org/clinvar/55586 ^@ NM_007294.3(BRCA1):c.5467+5G>C http://identifiers.org/clinvar/55636 ^@ NM_007294.3(BRCA1):c.557C>T (p.Ser186Phe) http://identifiers.org/clinvar/55689 ^@ NM_007294.3(BRCA1):c.755G>A (p.Arg252His) http://identifiers.org/clinvar/55740 ^@ NM_007294.3(BRCA1):c.851_852delAG (p.Gln284Profs) http://identifiers.org/clinvar/55807 ^@ NM_001142864.3(PIEZO1):c.6058G>A (p.Ala2020Thr) http://identifiers.org/clinvar/55871 ^@ NM_015340.3(LARS2):c.1565C>A (p.Thr522Asn) http://identifiers.org/clinvar/55947 ^@ NM_000027.3(AGA):c.439T>C (p.Ser147Pro) http://identifiers.org/clinvar/55998 ^@ NM_000111.2(SLC26A3):c.386C>T (p.Pro129Leu) http://identifiers.org/clinvar/56051 ^@ NM_000170.2(GLDC):c.1822_1832delTATGACCAGGT (p.Tyr608Leufs) http://identifiers.org/clinvar/56102 ^@ NM_000170.2(GLDC):c.706C>T (p.Arg236Ter) http://identifiers.org/clinvar/56156 ^@ NM_014585.5(SLC40A1):c.473G>T (p.Trp158Leu) http://identifiers.org/clinvar/56207 ^@ NM_000310.3(PPT1):c.566C>G (p.Pro189Arg) http://identifiers.org/clinvar/56258 ^@ NM_001042432.1(CLN3):c.214C>T (p.Gln72Ter) http://identifiers.org/clinvar/56308 ^@ NM_001080522.2(CC2D2A):c.3584delT (p.Phe1195Serfs) http://identifiers.org/clinvar/56360 ^@ NM_001126105.2(SLC7A7):c.1417C>T (p.Arg473Ter) http://identifiers.org/clinvar/56462 ^@ NM_004646.3(NPHS1):c.2126T>G (p.Val709Gly) http://identifiers.org/clinvar/56512 ^@ NM_004646.3(NPHS1):c.526+5G>C http://identifiers.org/clinvar/56563 ^@ NM_015294.4(TRIM37):c.1037_1040dupAGAT (p.Met347Ilefs) http://identifiers.org/clinvar/56619 ^@ NM_017777.3(MKS1):c.184_190delACTGCCA (p.Thr62Valfs) http://identifiers.org/clinvar/56671 ^@ NM_017890.4(VPS13B):c.5215_5232del18 (p.Ser1739_Gln1744del) http://identifiers.org/clinvar/56721 ^@ NM_018965.3(TREM2):c.269delG (p.Gly90Valfs) http://identifiers.org/clinvar/101329 ^@ NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg) http://identifiers.org/clinvar/101379 ^@ NM_000090.3(COL3A1):c.2636G>T (p.Gly879Val) http://identifiers.org/clinvar/101429 ^@ NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp) http://identifiers.org/clinvar/101479 ^@ NM_000090.3(COL3A1):c.2553+1G>C (p.Gly816_Ala851del) http://identifiers.org/clinvar/102434 ^@ NM_001040436.2(YARS2):c.572G>A (p.Gly191Asp) http://identifiers.org/clinvar/102601 ^@ NM_000277.1(PAH):c.158G>A (p.Arg53His) http://identifiers.org/clinvar/102656 ^@ NM_000277.1(PAH):c.359G>A (p.Trp120Ter) http://identifiers.org/clinvar/102707 ^@ NM_000277.1(PAH):c.509+1G>A http://identifiers.org/clinvar/102757 ^@ NM_000277.1(PAH):c.60G>C (p.Gln20His) http://identifiers.org/clinvar/102808 ^@ NM_000277.1(PAH):c.728G>T (p.Arg243Leu) http://identifiers.org/clinvar/102858 ^@ NM_000277.1(PAH):c.827T>G (p.Met276Arg) http://identifiers.org/clinvar/102910 ^@ NM_000277.1(PAH):c.960G>C (p.Lys320Asn) http://identifiers.org/clinvar/102968 ^@ NM_178844.3(NLRC3):c.-1352G>A http://identifiers.org/clinvar/125518 ^@ NM_007294.3(BRCA1):c.80+2T>G http://identifiers.org/clinvar/125603 ^@ NM_007294.3(BRCA1):c.3053_3054insTGAGA (p.Ile1019Glufs) http://identifiers.org/clinvar/125673 ^@ NM_007294.3(BRCA1):c.4097-11T>C http://identifiers.org/clinvar/125737 ^@ NM_007294.3(BRCA1):c.4944_4945delAA (p.Arg1649Asnfs) http://identifiers.org/clinvar/125811 ^@ NM_007294.3(BRCA1):c.5277+47_5277+48ins20 http://identifiers.org/clinvar/125873 ^@ NM_007294.3(BRCA1):c.*36C>G http://identifiers.org/clinvar/125936 ^@ NM_000059.3(BRCA2):c.1190_1191insTTAG (p.Gln397Hisfs) http://identifiers.org/clinvar/126000 ^@ NM_000059.3(BRCA2):c.2957A>T (p.Asn986Ile) http://identifiers.org/clinvar/126067 ^@ A1843E http://identifiers.org/clinvar/126138 ^@ NM_000059.3(BRCA2):c.7487A>C (p.Lys2496Thr) http://identifiers.org/clinvar/126197 ^@ U43746.1:n.9279+1G>A http://identifiers.org/clinvar/126256 ^@ NM_025114.3(CEP290):c.3574-9T>G http://identifiers.org/clinvar/126306 ^@ NM_153704.5(TMEM67):c.748G>A (p.Gly250Arg) http://identifiers.org/clinvar/126357 ^@ NM_001128849.1(SMARCA4):c.1419+8C>T http://identifiers.org/clinvar/126413 ^@ NM_015474.3(SAMHD1):c.649_650insG (p.Phe217Cysfs) http://identifiers.org/clinvar/126481 ^@ NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) http://identifiers.org/clinvar/126568 ^@ NM_024675.3(PALB2):c.*347A>C http://identifiers.org/clinvar/126618 ^@ NM_024675.3(PALB2):c.1684+39_1684+41dup http://identifiers.org/clinvar/126670 ^@ NM_024675.3(PALB2):c.2612A>G (p.Asp871Gly) http://identifiers.org/clinvar/126720 ^@ NM_024675.3(PALB2):c.3201+112A>G http://identifiers.org/clinvar/126771 ^@ NM_024675.3(PALB2):c.807T>C (p.Gly269=) http://identifiers.org/clinvar/126822 ^@ NM_000321.2(RB1):c.884dupA (p.Asn295Lysfs) http://identifiers.org/clinvar/126875 ^@ NM_000610.3(CD44):c.68-5493C>T http://identifiers.org/clinvar/126931 ^@ NM_001127464.2(ZNF469):c.77G>C (p.Ser26Thr) http://identifiers.org/clinvar/126981 ^@ NM_000251.2(MSH2):c.*61T>A http://identifiers.org/clinvar/127031 ^@ NM_005591.3(MRE11):c.1475C>A (p.Ala492Asp) http://identifiers.org/clinvar/159940 ^@ NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) http://identifiers.org/clinvar/160360 ^@ NM_002386.3(MC1R):c.575T>C (p.Leu192Pro) http://identifiers.org/clinvar/160815 ^@ GRCh38/hg38 9p24.3(chr9:204193-381489)x1 http://identifiers.org/clinvar/160866 ^@ GRCh38/hg38 7q21.3(chr7:93410151-93604672)x1 http://identifiers.org/clinvar/160919 ^@ GRCh38/hg38 15q11.2(chr15:22787972-23066575)x3 http://identifiers.org/clinvar/160970 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 http://identifiers.org/clinvar/161021 ^@ GRCh38/hg38 7p22.3(chr7:101528-227833)x3 http://identifiers.org/clinvar/161071 ^@ GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 http://identifiers.org/clinvar/161121 ^@ NM_152296.4(ATP1A3):c.410C>A (p.Ser137Tyr) http://identifiers.org/clinvar/161353 ^@ NM_000313.3(PROS1):c.676T>A (p.Cys226Ser) http://identifiers.org/clinvar/161253 ^@ NM_000190.3(HMBS):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/161303 ^@ NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) http://identifiers.org/clinvar/161203 ^@ NM_000020.2(ACVRL1):c.1157G>A (p.Arg386His) http://identifiers.org/clinvar/161409 ^@ NM_001543.4(NDST1):c.2126G>A (p.Arg709Gln) http://identifiers.org/clinvar/161472 ^@ NM_000845.2(GRM8):c.2554C>T (p.Arg852Cys) http://identifiers.org/clinvar/161822 ^@ NM_153267.4(MAMDC2):c.58G>A (p.Asp20Asn) http://identifiers.org/clinvar/161522 ^@ NM_001127615.2(ENOX1):c.759_765delATCCCCG (p.Ser254Leufs) http://identifiers.org/clinvar/161986 ^@ NM_002769.4(PRSS1):c.347G>C (p.Arg116Pro) http://identifiers.org/clinvar/162052 ^@ NM_001244008.1(KIF1A):c.173C>T (p.Ser58Leu) http://identifiers.org/clinvar/162112 ^@ NM_005211.3(CSF1R):c.2450T>C (p.Leu817Pro) http://identifiers.org/clinvar/178582 ^@ NM_206933.2(USH2A):c.2001C>T (p.His667=) http://identifiers.org/clinvar/178182 ^@ NM_133378.4(TTN):c.77189G>A (p.Arg25730Gln) http://identifiers.org/clinvar/179051 ^@ NM_133378.4(TTN):c.34352G>A (p.Arg11451His) http://identifiers.org/clinvar/179301 ^@ NM_133378.4(TTN):c.33770G>A (p.Arg11257Gln) http://identifiers.org/clinvar/178232 ^@ NM_001256850.1(TTN):c.27790A>G (p.Ile9264Val) http://identifiers.org/clinvar/178132 ^@ NM_198056.2(SCN5A):c.3207G>A (p.Thr1069=) http://identifiers.org/clinvar/178282 ^@ NM_004415.3(DSP):c.939+1G>A http://identifiers.org/clinvar/178382 ^@ NM_001199799.1(ILDR1):c.1159T>C (p.Ser387Pro) http://identifiers.org/clinvar/178032 ^@ NM_004415.3(DSP):c.5178C>A (p.Asn1726Lys) http://identifiers.org/clinvar/178332 ^@ NM_004403.2(DFNA5):c.1122C>T (p.Pro374=) http://identifiers.org/clinvar/163975 ^@ NR_029615.1(MIR183):n.105C>A http://identifiers.org/clinvar/163602 ^@ NM_032119.3(ADGRV1):c.12207C>T (p.Thr4069=) http://identifiers.org/clinvar/199108 ^@ NM_005506.3(SCARB2):c.1136C>T (p.Ala379Val) http://identifiers.org/clinvar/199159 ^@ NM_020686.5(ABAT):c.587C>T (p.Thr196Met) http://identifiers.org/clinvar/200960 ^@ NM_170707.3(LMNA):c.973dupG (p.Asp325Glyfs) http://identifiers.org/clinvar/201604 ^@ NM_003000.2(SDHB):c.210dupC (p.Met71Hisfs) http://identifiers.org/clinvar/201208 ^@ NM_001035.2(RYR2):c.1082G>A (p.Cys361Tyr) http://identifiers.org/clinvar/201264 ^@ NM_001035.2(RYR2):c.6515T>A (p.Met2172Lys) http://identifiers.org/clinvar/201545 ^@ NM_198056.2(SCN5A):c.5845G>A (p.Ala1949Thr) http://identifiers.org/clinvar/201488 ^@ NM_198056.2(SCN5A):c.3553C>T (p.Gln1185Ter) http://identifiers.org/clinvar/201431 ^@ NM_198056.2(SCN5A):c.421A>T (p.Ile141Phe) http://identifiers.org/clinvar/200534 ^@ NM_000238.3(KCNH2):c.3365C>T (p.Pro1122Leu) http://identifiers.org/clinvar/200658 ^@ NM_000238.3(KCNH2):c.2690_2691delAGinsC (p.Lys897Thrfs) http://identifiers.org/clinvar/200233 ^@ NM_000238.3(KCNH2):c.2398+58C>A http://identifiers.org/clinvar/200767 ^@ NM_000238.3(KCNH2):c.2261T>G (p.Leu754Arg) http://identifiers.org/clinvar/200360 ^@ NM_000238.3(KCNH2):c.1610G>A (p.Arg537Gln) http://identifiers.org/clinvar/200902 ^@ NM_000218.2(KCNQ1):c.1176G>A (p.Trp392Ter) http://identifiers.org/clinvar/200845 ^@ NM_000218.2(KCNQ1):c.1251+2T>C http://identifiers.org/clinvar/200104 ^@ NM_000138.4(FBN1):c.7111T>C (p.Trp2371Arg) http://identifiers.org/clinvar/200164 ^@ NM_000138.4(FBN1):c.5893delG (p.Ala1965Leufs) http://identifiers.org/clinvar/200051 ^@ NM_000138.4(FBN1):c.4586C>A (p.Thr1529Asn) http://identifiers.org/clinvar/199996 ^@ NM_000138.4(FBN1):c.2418A>G (p.Glu806=) http://identifiers.org/clinvar/201089 ^@ NM_002474.2(MYH11):c.5585G>A (p.Arg1862His) http://identifiers.org/clinvar/201036 ^@ NM_002474.2(MYH11):c.5172-13G>A http://identifiers.org/clinvar/201152 ^@ NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) http://identifiers.org/clinvar/201715 ^@ NM_001927.3(DES):c.1371+1G>C http://identifiers.org/clinvar/201658 ^@ NM_014391.2(ANKRD1):c.346-13_346-10delATTT http://identifiers.org/clinvar/201827 ^@ NM_002230.2(JUP):c.1705A>T (p.Ile569Phe) http://identifiers.org/clinvar/201770 ^@ NM_001390.4(DTNA):c.646G>T (p.Asp216Tyr) http://identifiers.org/clinvar/242586 ^@ NM_004369.3(COL6A3):c.6064-5G>A http://identifiers.org/clinvar/203098 ^@ NM_001256850.1(TTN):c.100568G>A (p.Arg33523His) http://identifiers.org/clinvar/203048 ^@ NM_001256850.1(TTN):c.94555G>A (p.Val31519Ile) http://identifiers.org/clinvar/202998 ^@ NM_001256850.1(TTN):c.89129C>T (p.Ser29710Leu) http://identifiers.org/clinvar/202948 ^@ NM_001256850.1(TTN):c.83573T>G (p.Leu27858Arg) http://identifiers.org/clinvar/202898 ^@ NM_001256850.1(TTN):c.75415C>A (p.Pro25139Thr) http://identifiers.org/clinvar/202848 ^@ NM_001256850.1(TTN):c.68411C>T (p.Thr22804Ile) http://identifiers.org/clinvar/202798 ^@ NM_001256850.1(TTN):c.60871G>A (p.Gly20291Arg) http://identifiers.org/clinvar/230437 ^@ NM_000038.5(APC):c.5092G>A (p.Asp1698Asn) http://identifiers.org/clinvar/229937 ^@ NM_000038.5(APC):c.6573A>G (p.Gly2191=) http://identifiers.org/clinvar/232326 ^@ NM_005732.3(RAD50):c.1545C>T (p.Asp515=) http://identifiers.org/clinvar/231876 ^@ NM_005732.3(RAD50):c.2017C>G (p.Leu673Val) http://identifiers.org/clinvar/231826 ^@ NM_005732.3(RAD50):c.2108C>T (p.Ser703Phe) http://identifiers.org/clinvar/232376 ^@ NM_005732.3(RAD50):c.3010A>G (p.Met1004Val) http://identifiers.org/clinvar/231726 ^@ NM_000535.6(PMS2):c.993C>T (p.Cys331=) http://identifiers.org/clinvar/229687 ^@ NM_000535.6(PMS2):c.416A>G (p.His139Arg) http://identifiers.org/clinvar/230187 ^@ NM_058195.3(CDKN2A):c.30G>T (p.Arg10=) http://identifiers.org/clinvar/231426 ^@ NM_000051.3(ATM):c.2115C>T (p.Tyr705=) http://identifiers.org/clinvar/232276 ^@ NM_000051.3(ATM):c.3277A>G (p.Ile1093Val) http://identifiers.org/clinvar/232226 ^@ NM_000051.3(ATM):c.3410G>A (p.Ser1137Asn) http://identifiers.org/clinvar/231126 ^@ NM_000051.3(ATM):c.3998A>T (p.Asp1333Val) http://identifiers.org/clinvar/231676 ^@ NM_000051.3(ATM):c.4241C>G (p.Ser1414Cys) http://identifiers.org/clinvar/234219 ^@ NM_000051.3(ATM):c.5956A>G (p.Ile1986Val) http://identifiers.org/clinvar/231476 ^@ NM_000051.3(ATM):c.6965G>T (p.Ser2322Ile) http://identifiers.org/clinvar/231276 ^@ NM_000051.3(ATM):c.8161G>C (p.Asp2721His) http://identifiers.org/clinvar/234169 ^@ NM_000051.3(ATM):c.8266A>C (p.Lys2756Gln) http://identifiers.org/clinvar/234019 ^@ NM_003002.3(SDHD):c.356C>T (p.Ala119Val) http://identifiers.org/clinvar/229837 ^@ NM_005591.3(MRE11):c.714T>C (p.Ile238=) http://identifiers.org/clinvar/231776 ^@ NM_000075.3(CDK4):c.-2G>A http://identifiers.org/clinvar/233969 ^@ NM_000059.3(BRCA2):c.550C>G (p.Leu184Val) http://identifiers.org/clinvar/232026 ^@ NM_000059.3(BRCA2):c.2327A>G (p.Lys776Arg) http://identifiers.org/clinvar/229737 ^@ NM_000059.3(BRCA2):c.4242G>A (p.Thr1414=) http://identifiers.org/clinvar/232126 ^@ NM_000059.3(BRCA2):c.5913T>C (p.Ser1971=) http://identifiers.org/clinvar/232076 ^@ NM_000059.3(BRCA2):c.7505G>T (p.Arg2502Leu) http://identifiers.org/clinvar/230287 ^@ NM_000059.3(BRCA2):c.8479C>G (p.Pro2827Ala) http://identifiers.org/clinvar/231626 ^@ NM_004360.4(CDH1):c.1382C>T (p.Pro461Leu) http://identifiers.org/clinvar/230337 ^@ NM_004360.4(CDH1):c.2603G>A (p.Arg868His) http://identifiers.org/clinvar/230137 ^@ NM_144997.5(FLCN):c.557G>A (p.Trp186Ter) http://identifiers.org/clinvar/229787 ^@ NM_001042492.2(NF1):c.134A>G (p.Asn45Ser) http://identifiers.org/clinvar/231976 ^@ NM_001042492.2(NF1):c.6306_6307insT (p.Leu2103Serfs) http://identifiers.org/clinvar/231226 ^@ NM_001042492.2(NF1):c.7668G>C (p.Arg2556Ser) http://identifiers.org/clinvar/231376 ^@ NM_007294.3(BRCA1):c.5221G>A (p.Val1741Ile) http://identifiers.org/clinvar/231176 ^@ NM_007294.3(BRCA1):c.4646A>T (p.Glu1549Val) http://identifiers.org/clinvar/232176 ^@ NM_007294.3(BRCA1):c.4552C>A (p.Gln1518Lys) http://identifiers.org/clinvar/231926 ^@ NM_007294.3(BRCA1):c.2402delG (p.Cys801Leufs) http://identifiers.org/clinvar/229887 ^@ NM_058216.2(RAD51C):c.935G>A (p.Arg312Gln) http://identifiers.org/clinvar/232426 ^@ NM_032043.2(BRIP1):c.3041G>C (p.Gly1014Ala) http://identifiers.org/clinvar/231526 ^@ NM_032043.2(BRIP1):c.2497A>G (p.Ile833Val) http://identifiers.org/clinvar/230237 ^@ NM_032043.2(BRIP1):c.1510dupA (p.Ile504Asnfs) http://identifiers.org/clinvar/234069 ^@ NM_007194.3(CHEK2):c.238C>T (p.Pro80Ser) http://identifiers.org/clinvar/235044 ^@ NM_004572.3(PKP2):c.730C>G (p.Pro244Ala) http://identifiers.org/clinvar/234994 ^@ NM_005477.2(HCN4):c.2797G>T (p.Ala933Ser) http://identifiers.org/clinvar/235094 ^@ NM_181459.3(PAX3):c.415A>T (p.Lys139Ter) http://identifiers.org/clinvar/235231 ^@ NM_153603.3(COG7):c.170-11_170-9delTTT http://identifiers.org/clinvar/235285 ^@ NM_004782.3(SNAP29):c.487A>G (p.Ser163Gly) http://identifiers.org/clinvar/235337 ^@ NM_000183.2(HADHB):c.397A>G (p.Thr133Ala) http://identifiers.org/clinvar/235390 ^@ NM_031466.7(TRAPPC9):c.289T>C (p.Phe97Leu) http://identifiers.org/clinvar/236354 ^@ NC_000004.10:g.114077690_118094709dup4017020 http://identifiers.org/clinvar/236455 ^@ NM_006343.2(MERTK):c.1866G>C (p.Lys622Asn) http://identifiers.org/clinvar/236505 ^@ NM_020366.3(RPGRIP1):c.1445T>A (p.Leu482Ter) http://identifiers.org/clinvar/240766 ^@ NM_007272.2(CTRC):c.674A>C (p.Glu225Ala) http://identifiers.org/clinvar/241416 ^@ NM_022051.2(EGLN1):c.319G>T (p.Ala107Ser) http://identifiers.org/clinvar/237109 ^@ NM_000143.3(FH):c.1237-14_1237-9dupTCACTC http://identifiers.org/clinvar/240966 ^@ NM_015102.4(NPHP4):c.2031C>T (p.Pro677=) http://identifiers.org/clinvar/240716 ^@ NM_006922.3(SCN3A):c.5656G>A (p.Val1886Ile) http://identifiers.org/clinvar/237411 ^@ NM_000251.2(MSH2):c.79C>A (p.Pro27Thr) http://identifiers.org/clinvar/237361 ^@ NM_000251.2(MSH2):c.121G>T (p.Asp41Tyr) http://identifiers.org/clinvar/237211 ^@ NM_000179.2(MSH6):c.60C>T (p.Ala20=) http://identifiers.org/clinvar/237160 ^@ NM_000179.2(MSH6):c.2562G>C (p.Lys854Asn) http://identifiers.org/clinvar/241016 ^@ NM_015120.4(ALMS1):c.9433dupA (p.Thr3145Asnfs) http://identifiers.org/clinvar/237311 ^@ NM_000249.3(MLH1):c.1371A>G (p.Glu457=) http://identifiers.org/clinvar/242205 ^@ NM_198056.2(SCN5A):c.5753A>G (p.Gln1918Arg) http://identifiers.org/clinvar/240666 ^@ NM_006514.3(SCN10A):c.2972C>T (p.Pro991Leu) http://identifiers.org/clinvar/241066 ^@ NM_015896.3(ZMYND10):c.1073A>G (p.Gln358Arg) http://identifiers.org/clinvar/240916 ^@ NM_014476.5(PDLIM3):c.778G>A (p.Val260Met) http://identifiers.org/clinvar/240366 ^@ NM_006206.4(PDGFRA):c.899A>C (p.Lys300Thr) http://identifiers.org/clinvar/240316 ^@ NM_006206.4(PDGFRA):c.1782G>A (p.Val594=) http://identifiers.org/clinvar/237261 ^@ NM_000222.2(KIT):c.2358G>T (p.Lys786Asn) http://identifiers.org/clinvar/236555 ^@ NM_000038.5(APC):c.-85-?_*2113+?del http://identifiers.org/clinvar/236605 ^@ NM_000038.5(APC):c.4701delA (p.Asp1568Metfs) http://identifiers.org/clinvar/236655 ^@ NM_000038.5(APC):c.8306A>G (p.Lys2769Arg) http://identifiers.org/clinvar/263104 ^@ NM_198253.2(TERT):c.1849C>T (p.Leu617=) http://identifiers.org/clinvar/263054 ^@ NM_182925.4(FLT4):c.3959G>A (p.Arg1320Gln) http://identifiers.org/clinvar/262204 ^@ NM_033071.3(SYNE1):c.9672+47C>T http://identifiers.org/clinvar/261165 ^@ NM_019105.6(TNXB):c.7797G>A (p.Leu2599=) http://identifiers.org/clinvar/262404 ^@ NM_138694.3(PKHD1):c.5125C>T (p.Leu1709Phe) http://identifiers.org/clinvar/260265 ^@ NM_012470.3(TNPO3):c.2661C>T (p.Ala887=) http://identifiers.org/clinvar/262304 ^@ NM_058246.3(DNAJB6):c.-26-7C>T http://identifiers.org/clinvar/260765 ^@ NM_016616.4(NME8):c.594C>G (p.Val198=) http://identifiers.org/clinvar/255426 ^@ NM_000168.5(GLI3):c.1911T>C (p.His637=) http://identifiers.org/clinvar/262804 ^@ NM_172218.2(SPAG1):c.939+13T>C http://identifiers.org/clinvar/261315 ^@ NM_020476.2(ANK1):c.5096+16T>C http://identifiers.org/clinvar/260915 ^@ NM_017780.3(CHD7):c.7428T>C (p.Asp2476=) http://identifiers.org/clinvar/261065 ^@ NM_018972.2(GDAP1):c.507T>G (p.Ser169=) http://identifiers.org/clinvar/262754 ^@ NM_153704.5(TMEM67):c.507-19T>C http://identifiers.org/clinvar/262654 ^@ NM_152564.4(VPS13B):c.11044+33C>A http://identifiers.org/clinvar/260415 ^@ NM_014425.4(INVS):c.3017-5T>G http://identifiers.org/clinvar/260215 ^@ NM_012210.3(TRIM32):c.1710G>A (p.Ser570=) http://identifiers.org/clinvar/260515 ^@ NM_015046.5(SETX):c.6936-27T>G http://identifiers.org/clinvar/262454 ^@ NM_139025.4(ADAMTS13):c.936C>T (p.Arg312=) http://identifiers.org/clinvar/255076 ^@ NM_000093.4(COL5A1):c.3205-18C>G http://identifiers.org/clinvar/255676 ^@ NM_000264.3(PTCH1):c.2250+46C>T http://identifiers.org/clinvar/262854 ^@ NM_173551.4(ANKS6):c.609C>T (p.His203=) http://identifiers.org/clinvar/260465 ^@ NM_014915.2(ANKRD26):c.3384G>A (p.Lys1128=) http://identifiers.org/clinvar/260715 ^@ NM_016341.3(PLCE1):c.2124G>A (p.Val708=) http://identifiers.org/clinvar/263254 ^@ NM_199292.2(TH):c.360G>A (p.Arg120=) http://identifiers.org/clinvar/261415 ^@ NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) http://identifiers.org/clinvar/261465 ^@ NM_021957.3(GYS2):c.1251C>T (p.Asn417=) http://identifiers.org/clinvar/261215 ^@ NM_020297.3(ABCC9):c.2355A>T (p.Thr785=) http://identifiers.org/clinvar/260165 ^@ NM_012062.4(DNM1L):c.120A>C (p.Ser40=) http://identifiers.org/clinvar/262254 ^@ NM_052867.2(NALCN):c.2241C>T (p.Pro747=) http://identifiers.org/clinvar/255626 ^@ NM_000257.3(MYH7):c.1266T>C (p.Tyr422=) http://identifiers.org/clinvar/261015 ^@ NM_018139.2(DNAAF2):c.1851C>T (p.Asn617=) http://identifiers.org/clinvar/260365 ^@ NM_014239.3(EIF2B2):c.433+44C>A http://identifiers.org/clinvar/255376 ^@ NM_000153.3(GALC):c.397T>C (p.Leu133=) http://identifiers.org/clinvar/254876 ^@ NM_000070.2(CAPN3):c.73C>T (p.His25Tyr) http://identifiers.org/clinvar/260315 ^@ NM_014080.4(DUOX2):c.1461G>C (p.Gly487=) http://identifiers.org/clinvar/263304 ^@ NM_207581.3(DUOXA2):c.341-4A>G http://identifiers.org/clinvar/335701 ^@ NM_004304.4(ALK):c.2488A>T (p.Met830Leu) http://identifiers.org/clinvar/335851 ^@ NM_014946.3(SPAST):c.*765A>C http://identifiers.org/clinvar/335251 ^@ NM_004321.7(KIF1A):c.*108C>T http://identifiers.org/clinvar/335301 ^@ NM_000030.2(AGXT):c.1071+12C>T http://identifiers.org/clinvar/335451 ^@ NM_194248.2(OTOF):c.1570G>A (p.Gly524Arg) http://identifiers.org/clinvar/336151 ^@ NM_133259.3(LRPPRC):c.3364+6T>A http://identifiers.org/clinvar/335551 ^@ NM_144631.5(ZNF513):c.*129G>A http://identifiers.org/clinvar/336458 ^@ NM_000233.3(LHCGR):c.2002A>C (p.Thr668Pro) http://identifiers.org/clinvar/336508 ^@ NM_001135659.2(NRXN1):c.*2384delT http://identifiers.org/clinvar/333710 ^@ NM_001204.6(BMPR2):c.*5408G>T http://identifiers.org/clinvar/336608 ^@ NM_001039348.2(EFEMP1):c.*1004C>G http://identifiers.org/clinvar/336708 ^@ NM_002618.3(PEX13):c.*3044delT http://identifiers.org/clinvar/333460 ^@ NM_032977.3(CASP10):c.*1257G>A http://identifiers.org/clinvar/333860 ^@ NM_014929.3(FASTKD2):c.*3775C>T http://identifiers.org/clinvar/333910 ^@ NM_015040.3(PIKFYVE):c.2993C>G (p.Thr998Ser) http://identifiers.org/clinvar/336101 ^@ NM_133259.3(LRPPRC):c.*2099C>A http://identifiers.org/clinvar/333660 ^@ NM_001204.6(BMPR2):c.*378T>G http://identifiers.org/clinvar/336958 ^@ NM_003494.3(DYSF):c.1863G>A (p.Gly621=) http://identifiers.org/clinvar/336201 ^@ NM_000341.3(SLC3A1):c.1200A>G (p.Pro400=) http://identifiers.org/clinvar/334111 ^@ NM_000384.2(APOB):c.9530A>G (p.Tyr3177Cys) http://identifiers.org/clinvar/337008 ^@ NM_015120.4(ALMS1):c.1267G>A (p.Asp423Asn) http://identifiers.org/clinvar/333760 ^@ NM_012092.3(ICOS):c.*1773G>C http://identifiers.org/clinvar/336351 ^@ NM_139279.5(MCFD2):c.*1752T>C http://identifiers.org/clinvar/337308 ^@ NM_198843.2(SFTPB):c.606G>C (p.Gly202=) http://identifiers.org/clinvar/334212 ^@ NM_173076.2(ABCA12):c.*539dupG http://identifiers.org/clinvar/334262 ^@ NM_173076.2(ABCA12):c.1625T>C (p.Val542Ala) http://identifiers.org/clinvar/334061 ^@ NM_000384.2(APOB):c.*171C>T http://identifiers.org/clinvar/337508 ^@ NM_017849.3(TMEM127):c.-37A>G http://identifiers.org/clinvar/336658 ^@ NM_001114636.1(FANCL):c.-40C>A http://identifiers.org/clinvar/334011 ^@ NM_001875.4(CPS1):c.195C>T (p.Ser65=) http://identifiers.org/clinvar/334462 ^@ NM_015311.2(OBSL1):c.5270C>T (p.Pro1757Leu) http://identifiers.org/clinvar/334362 ^@ NM_000784.3(CYP27A1):c.-357dupC http://identifiers.org/clinvar/337208 ^@ NM_000821.6(GGCX):c.*3047G>A http://identifiers.org/clinvar/337358 ^@ NM_022912.2(REEP1):c.*2192G>A http://identifiers.org/clinvar/337458 ^@ NM_017849.3(TMEM127):c.*2642C>T http://identifiers.org/clinvar/343048 ^@ NM_015869.4(PPARG):c.1206C>A (p.Phe402Leu) http://identifiers.org/clinvar/343398 ^@ NM_003571.3(BFSP2):c.75G>A (p.Ala25=) http://identifiers.org/clinvar/335951 ^@ NM_000104.3(CYP1B1):c.1202A>G (p.His401Arg) http://identifiers.org/clinvar/343098 ^@ NM_002880.3(RAF1):c.*348T>C http://identifiers.org/clinvar/336051 ^@ NM_022436.2(ABCG5):c.610G>A (p.Ala204Thr) http://identifiers.org/clinvar/344087 ^@ NM_000055.3(BCHE):c.1770C>T (p.Asn590=) http://identifiers.org/clinvar/335751 ^@ NM_000379.3(XDH):c.*518A>G http://identifiers.org/clinvar/335801 ^@ NM_000379.3(XDH):c.-66G>C http://identifiers.org/clinvar/343298 ^@ NM_000539.3(RHO):c.*715C>T http://identifiers.org/clinvar/354453 ^@ NM_004385.4(VCAN):c.8063C>T (p.Pro2688Leu) http://identifiers.org/clinvar/357343 ^@ NM_003221.3(TFAP2B):c.*3578A>G http://identifiers.org/clinvar/350617 ^@ NM_005573.3(LMNB1):c.1190G>A (p.Arg397His) http://identifiers.org/clinvar/357593 ^@ NM_001723.5(DST):c.3139C>T (p.Arg1047Trp) http://identifiers.org/clinvar/358043 ^@ NM_004999.3(MYO6):c.*3473delA http://identifiers.org/clinvar/355003 ^@ NM_004752.3(GCM2):c.*521C>A http://identifiers.org/clinvar/355053 ^@ NM_014845.5(FIG4):c.*150_*151delAT http://identifiers.org/clinvar/355104 ^@ NM_000493.3(COL10A1):c.460G>A (p.Val154Met) http://identifiers.org/clinvar/355404 ^@ NM_006208.2(ENPP1):c.*2301A>G http://identifiers.org/clinvar/355454 ^@ NM_172105.3(EYA4):c.*1350G>A http://identifiers.org/clinvar/355604 ^@ NM_003764.3(STX11):c.589G>A (p.Val197Met) http://identifiers.org/clinvar/351606 ^@ NM_024577.3(SH3TC2):c.*19002A>G http://identifiers.org/clinvar/351656 ^@ NM_024577.3(SH3TC2):c.*14985A>G http://identifiers.org/clinvar/356054 ^@ NM_003730.4(RNASET2):c.-392G>C http://identifiers.org/clinvar/351856 ^@ NM_024577.3(SH3TC2):c.*2361A>T http://identifiers.org/clinvar/351906 ^@ NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) http://identifiers.org/clinvar/351956 ^@ NM_000440.2(PDE6A):c.*1762A>G http://identifiers.org/clinvar/359832 ^@ NM_004403.2(DFNA5):c.*273C>T http://identifiers.org/clinvar/360182 ^@ NM_000168.5(GLI3):c.*1691C>T http://identifiers.org/clinvar/360232 ^@ NM_000168.5(GLI3):c.3117G>A (p.Ala1039=) http://identifiers.org/clinvar/360582 ^@ NM_153033.4(KCTD7):c.-69C>T http://identifiers.org/clinvar/360732 ^@ NM_000941.2(POR):c.*372G>A http://identifiers.org/clinvar/360782 ^@ NM_000601.5(HGF):c.438C>A (p.Gly146=) http://identifiers.org/clinvar/357443 ^@ NM_138694.3(PKHD1):c.2463C>G (p.Ala821=) http://identifiers.org/clinvar/357693 ^@ NM_001142800.1(EYS):c.7202G>C (p.Gly2401Ala) http://identifiers.org/clinvar/358093 ^@ NM_181714.3(LCA5):c.1497A>G (p.Leu499=) http://identifiers.org/clinvar/306237 ^@ NM_024698.5(SLC25A22):c.*1013C>A http://identifiers.org/clinvar/300223 ^@ NM_000417.2(IL2RA):c.*1539T>C http://identifiers.org/clinvar/300373 ^@ NM_018344.5(SLC29A3):c.*103G>T http://identifiers.org/clinvar/300473 ^@ NM_022124.5(CDH23):c.9291G>T (p.Lys3097Asn) http://identifiers.org/clinvar/307227 ^@ NM_002834.4(PTPN11):c.*41_*46delTTTCAC http://identifiers.org/clinvar/300523 ^@ NM_002778.3(PSAP):c.577-10T>C http://identifiers.org/clinvar/307277 ^@ NM_000192.3(TBX5):c.*926T>C http://identifiers.org/clinvar/364470 ^@ NM_005502.3(ABCA1):c.-76dupG http://identifiers.org/clinvar/364770 ^@ NM_018249.5(CDK5RAP2):c.1969-6T>C http://identifiers.org/clinvar/307527 ^@ NM_001414.3(EIF2B1):c.*196A>T http://identifiers.org/clinvar/307577 ^@ NM_012463.3(ATP6V0A2):c.264G>A (p.Ala88=) http://identifiers.org/clinvar/364820 ^@ NM_000177.4(GSN):c.1708G>A (p.Ala570Thr) http://identifiers.org/clinvar/307627 ^@ NM_012463.3(ATP6V0A2):c.*2344_*2346dupCTT http://identifiers.org/clinvar/307677 ^@ NM_004064.4(CDKN1B):c.*327C>T http://identifiers.org/clinvar/307727 ^@ NM_000834.3(GRIN2B):c.*285G>A http://identifiers.org/clinvar/364620 ^@ NM_000031.5(ALAD):c.*1864A>C http://identifiers.org/clinvar/300923 ^@ NM_002247.3(KCNMA1):c.*2226A>G http://identifiers.org/clinvar/307827 ^@ NM_172364.4(CACNA2D4):c.*73G>C http://identifiers.org/clinvar/301023 ^@ NM_007055.3(POLR3A):c.*620G>A http://identifiers.org/clinvar/365170 ^@ NM_001130438.2(SPTAN1):c.4958C>T (p.Ala1653Val) http://identifiers.org/clinvar/301123 ^@ NM_001002295.1(GATA3):c.631G>A (p.Ala211Thr) http://identifiers.org/clinvar/364870 ^@ NM_000550.2(TYRP1):c.*573T>G http://identifiers.org/clinvar/365320 ^@ NM_015046.5(SETX):c.*1224G>C http://identifiers.org/clinvar/301373 ^@ NM_005271.4(GLUD1):c.*1545C>T http://identifiers.org/clinvar/301423 ^@ NM_000314.6(PTEN):c.802-2delA http://identifiers.org/clinvar/365220 ^@ NM_000113.2(TOR1A):c.*454T>A http://identifiers.org/clinvar/298434 ^@ NM_004376.6(COX15):c.-597A>C http://identifiers.org/clinvar/309816 ^@ NM_002905.3(RDH5):c.793A>G (p.Ser265Gly) http://identifiers.org/clinvar/310016 ^@ NM_001172696.1(TSFM):c.602G>C (p.Gly201Ala) http://identifiers.org/clinvar/310116 ^@ NM_001065.3(TNFRSF1A):c.-233C>T http://identifiers.org/clinvar/310216 ^@ NM_002076.3(GNS):c.-168dupC http://identifiers.org/clinvar/310266 ^@ NM_021150.3(GRIP1):c.*1548_*1551dupAACA http://identifiers.org/clinvar/302962 ^@ NG_012235.1:g.7041G>A http://identifiers.org/clinvar/312610 ^@ NM_005708.4(GPC6):c.*4547G>T http://identifiers.org/clinvar/312660 ^@ NM_001376.4(DYNC1H1):c.13149C>T (p.Thr4383=) http://identifiers.org/clinvar/314399 ^@ NM_001040108.1(MLH3):c.-149G>C http://identifiers.org/clinvar/312710 ^@ NM_022489.3(INF2):c.3550G>A (p.Ala1184Thr) http://identifiers.org/clinvar/312860 ^@ NM_002471.3(MYH6):c.3604G>A (p.Val1202Met) http://identifiers.org/clinvar/314599 ^@ NM_004863.3(SPTLC2):c.*3882_*3884delGTT http://identifiers.org/clinvar/312960 ^@ NM_001099274.1(TINF2):c.-93T>C http://identifiers.org/clinvar/322784 ^@ NM_145068.3(TRPV3):c.936G>A (p.Thr312=) http://identifiers.org/clinvar/322834 ^@ NM_004937.2(CTNS):c.94G>A (p.Val32Ile) http://identifiers.org/clinvar/313360 ^@ NM_000161.2(GCH1):c.*1719C>T http://identifiers.org/clinvar/315299 ^@ NM_139057.3(ADAMTS17):c.1248G>A (p.Glu416=) http://identifiers.org/clinvar/322884 ^@ NM_004937.2(CTNS):c.*1176_*1179delCTGT http://identifiers.org/clinvar/313460 ^@ NM_005982.3(SIX1):c.*297T>G http://identifiers.org/clinvar/315399 ^@ NM_144599.4(NIPA1):c.*1563C>T http://identifiers.org/clinvar/323084 ^@ NM_002274.3(KRT13):c.897+6C>T http://identifiers.org/clinvar/323284 ^@ NM_000263.3(NAGLU):c.-228C>G http://identifiers.org/clinvar/367749 ^@ NM_002294.2(LAMP2):c.*3351_*3354delGTTA http://identifiers.org/clinvar/367899 ^@ NM_194277.2(FRMD7):c.*752_*755delGTTT http://identifiers.org/clinvar/314349 ^@ NM_001040108.1(MLH3):c.*2965C>T http://identifiers.org/clinvar/368549 ^@ NM_006306.3(SMC1A):c.*5197T>C http://identifiers.org/clinvar/314649 ^@ NM_004863.3(SPTLC2):c.*823G>T http://identifiers.org/clinvar/368699 ^@ NM_153252.4(BRWD3):c.*4194C>A http://identifiers.org/clinvar/314799 ^@ NM_198309.3(TTC8):c.300-15T>A http://identifiers.org/clinvar/324732 ^@ NM_031220.3(PITPNM3):c.*582dupG http://identifiers.org/clinvar/316988 ^@ NM_017882.2(CLN6):c.*140_*143delCGTG http://identifiers.org/clinvar/314899 ^@ NM_004239.4(TRIP11):c.*1294A>G http://identifiers.org/clinvar/324832 ^@ NM_000891.2(KCNJ2):c.531C>T (p.Gly177=) http://identifiers.org/clinvar/315049 ^@ NM_177438.2(DICER1):c.*3736T>G http://identifiers.org/clinvar/325082 ^@ NM_207346.2(TSEN54):c.285+12G>A http://identifiers.org/clinvar/315499 ^@ NM_002420.5(TRPM1):c.3872C>T (p.Thr1291Met) http://identifiers.org/clinvar/315199 ^@ NM_139057.3(ADAMTS17):c.*1054T>C http://identifiers.org/clinvar/315249 ^@ NM_139057.3(ADAMTS17):c.3219C>T (p.Tyr1073=) http://identifiers.org/clinvar/325432 ^@ NM_024599.5(RHBDF2):c.1725+12T>C http://identifiers.org/clinvar/325682 ^@ NM_138793.3(CANT1):c.*829G>A http://identifiers.org/clinvar/371954 ^@ NM_006231.3(POLE):c.4952+17C>T http://identifiers.org/clinvar/372054 ^@ NM_006231.3(POLE):c.3275+14C>G http://identifiers.org/clinvar/372004 ^@ NM_007294.3(BRCA1):c.5467+22G>C http://identifiers.org/clinvar/371854 ^@ NM_000455.4(STK11):c.290+22C>T http://identifiers.org/clinvar/371904 ^@ NM_001256849.1(POLD1):c.3218+17G>A http://identifiers.org/clinvar/372104 ^@ NM_006412.3(AGPAT2):c.194G>A (p.Trp65Ter) http://identifiers.org/clinvar/373149 ^@ NM_015726.3(DCAF8):c.152C>T (p.Thr51Ile) http://identifiers.org/clinvar/373699 ^@ NM_018136.4(ASPM):c.1674T>A (p.Tyr558Ter) http://identifiers.org/clinvar/373649 ^@ NM_001182.4(ALDH7A1):c.1376T>C (p.Ile459Thr) http://identifiers.org/clinvar/373799 ^@ NM_002887.3(RARS):c.1443_1446delAAGA (p.Arg482Thrfs) http://identifiers.org/clinvar/373749 ^@ NM_002180.2(IGHMBP2):c.547+1G>A http://identifiers.org/clinvar/373499 ^@ NM_017617.4(NOTCH1):c.1543G>C (p.Glu515Gln) http://identifiers.org/clinvar/373199 ^@ NM_003239.4(TGFB3):c.781C>T (p.Arg261Cys) http://identifiers.org/clinvar/373599 ^@ NM_002474.2(MYH11):c.2666A>C (p.Lys889Thr) http://identifiers.org/clinvar/373549 ^@ NM_000833.4(GRIN2A):c.3163G>C (p.Glu1055Gln) http://identifiers.org/clinvar/373049 ^@ NM_001193416.2(DDX3X):c.372_373delCA (p.Asn124Lysfs) http://identifiers.org/clinvar/373849 ^@ NG_005905.2:g.147946_153049del5104 http://identifiers.org/clinvar/374002 ^@ NM_001079821.2(NLRP3):c.1805A>G (p.Gln602Arg) http://identifiers.org/clinvar/373902 ^@ NM_025216.2(WNT10A):c.667C>T (p.Arg223Cys) http://identifiers.org/clinvar/374052 ^@ NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) http://identifiers.org/clinvar/373952 ^@ NM_006772.2(SYNGAP1):c.3200delC (p.Pro1067Hisfs) http://identifiers.org/clinvar/374202 ^@ NM_014112.4(TRPS1):c.2794G>A (p.Ala932Thr) http://identifiers.org/clinvar/374102 ^@ NM_000296.3(PKD1):c.3520C>T (p.Gln1174Ter) http://identifiers.org/clinvar/374152 ^@ NM_004247.3(EFTUD2):c.2047A>T (p.Asn683Tyr) http://identifiers.org/clinvar/374256 ^@ NM_017519.2(ARID1B):c.17G>A (p.Gly6Asp) http://identifiers.org/clinvar/374391 ^@ NM_006306.3(SMC1A):c.116C>G (p.Ser39Ter) http://identifiers.org/clinvar/374326 ^@ NM_031206.4(LAS1L):c.1243C>T (p.Arg415Trp) http://identifiers.org/clinvar/374444 ^@ NM_018993.3(RIN2):c.1642G>A (p.Val548Met) http://identifiers.org/clinvar/374544 ^@ NM_002160.3(TNC):c.4172A>G (p.Gln1391Arg) http://identifiers.org/clinvar/374594 ^@ NM_005876.4(SPEG):c.4730-4C>T http://identifiers.org/clinvar/374644 ^@ NM_152564.4(VPS13B):c.5436_5450delTGACATATTTATTAC (p.Asp1813_Thr1817del) http://identifiers.org/clinvar/374694 ^@ NM_001136194.1(FASTKD2):c.76T>C (p.Trp26Arg) http://identifiers.org/clinvar/374744 ^@ NM_172107.3(KCNQ2):c.815T>C (p.Leu272Pro) http://identifiers.org/clinvar/374804 ^@ NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) http://identifiers.org/clinvar/374854 ^@ NM_007198.3(PLPBP):c.207+1G>A http://identifiers.org/clinvar/374911 ^@ NM_001242875.2(ELP2):c.1858A>C (p.Thr620Pro) http://identifiers.org/clinvar/375935 ^@ NM_000125.3(ESR1):c.1601T>A (p.Val534Glu) http://identifiers.org/clinvar/383559 ^@ NM_000251.2(MSH2):c.943-5A>T http://identifiers.org/clinvar/382006 ^@ NM_000393.4(COL5A2):c.1617+9G>T http://identifiers.org/clinvar/385950 ^@ NM_001079.3(ZAP70):c.1290-16T>C http://identifiers.org/clinvar/392917 ^@ NM_003042.3(SLC6A1):c.929A>C (p.Asn310Thr) http://identifiers.org/clinvar/391728 ^@ NM_198056.2(SCN5A):c.2931C>G (p.Thr977=) http://identifiers.org/clinvar/391028 ^@ NM_024996.5(GFM1):c.2059C>T (p.Leu687=) http://identifiers.org/clinvar/393017 ^@ NM_024334.2(TMEM43):c.1000+12G>A http://identifiers.org/clinvar/388539 ^@ NM_000481.3(AMT):c.401A>G (p.Asn134Ser) http://identifiers.org/clinvar/390828 ^@ NM_015141.3(GPD1L):c.384C>T (p.Pro128=) http://identifiers.org/clinvar/385600 ^@ NM_000179.2(MSH6):c.2226C>T (p.Asn742=) http://identifiers.org/clinvar/385400 ^@ NM_015340.3(LARS2):c.2602G>A (p.Glu868Lys) http://identifiers.org/clinvar/381016 ^@ NM_152778.2(MFSD8):c.1230C>T (p.Tyr410=) http://identifiers.org/clinvar/391328 ^@ NM_000258.2(MYL3):c.465C>T (p.His155=) http://identifiers.org/clinvar/383609 ^@ NM_005051.2(QARS):c.1388+7G>A http://identifiers.org/clinvar/390578 ^@ NM_018699.3(PRDM5):c.1632G>A (p.Pro544=) http://identifiers.org/clinvar/380815 ^@ NM_024582.4(FAT4):c.405C>T (p.Phe135=) http://identifiers.org/clinvar/383760 ^@ NM_015120.4(ALMS1):c.6857G>C (p.Arg2286Pro) http://identifiers.org/clinvar/385800 ^@ NM_212552.2(BOLA3):c.169+14C>A http://identifiers.org/clinvar/392967 ^@ NM_001080522.2(CC2D2A):c.380G>A (p.Arg127Gln) http://identifiers.org/clinvar/385750 ^@ NM_000806.5(GABRA1):c.74+19A>G http://identifiers.org/clinvar/382558 ^@ NM_022455.4(NSD1):c.3588G>T (p.Val1196=) http://identifiers.org/clinvar/382507 ^@ NM_001999.3(FBN2):c.4296C>T (p.Tyr1432=) http://identifiers.org/clinvar/388689 ^@ NM_021911.2(GABRB2):c.723C>T (p.Asn241=) http://identifiers.org/clinvar/380966 ^@ NM_022455.4(NSD1):c.4473G>A (p.Ser1491=) http://identifiers.org/clinvar/392617 ^@ NM_014244.4(ADAMTS2):c.773G>A (p.Arg258His) http://identifiers.org/clinvar/384010 ^@ NM_198586.2(NHLRC1):c.285A>G (p.Ser95=) http://identifiers.org/clinvar/384260 ^@ NM_022132.4(MCCC2):c.969T>C (p.Ala323=) http://identifiers.org/clinvar/391228 ^@ NM_002291.2(LAMB1):c.3762-4A>G http://identifiers.org/clinvar/383709 ^@ NM_002291.2(LAMB1):c.1572G>A (p.Ala524=) http://identifiers.org/clinvar/383509 ^@ NM_001148.4(ANK2):c.11133C>T (p.Ile3711=) http://identifiers.org/clinvar/385450 ^@ NM_016203.3(PRKAG2):c.1479G>A (p.Thr493=) http://identifiers.org/clinvar/391128 ^@ NM_080680.2(COL11A2):c.5083C>T (p.Arg1695Trp) http://identifiers.org/clinvar/383659 ^@ NM_004722.3(AP4M1):c.255-16C>T http://identifiers.org/clinvar/391428 ^@ NM_020745.3(AARS2):c.2255+7C>T http://identifiers.org/clinvar/391578 ^@ NM_006947.3(SRP72):c.433G>C (p.Glu145Gln) http://identifiers.org/clinvar/382708 ^@ NM_000535.6(PMS2):c.1008T>G (p.Val336=) http://identifiers.org/clinvar/384511 ^@ NM_000038.5(APC):c.1662A>C (p.Arg554=) http://identifiers.org/clinvar/388489 ^@ NM_004415.3(DSP):c.2631-5C>T http://identifiers.org/clinvar/390778 ^@ NM_004415.3(DSP):c.5257A>C (p.Arg1753=) http://identifiers.org/clinvar/380916 ^@ NM_014846.3(WASHC5):c.186+17G>A http://identifiers.org/clinvar/384060 ^@ NM_000038.5(APC):c.6699T>C (p.Ile2233=) http://identifiers.org/clinvar/384360 ^@ NM_006904.6(PRKDC):c.3462G>A (p.Pro1154=) http://identifiers.org/clinvar/390928 ^@ NM_000238.3(KCNH2):c.1648C>T (p.Leu550=) http://identifiers.org/clinvar/384210 ^@ NM_016203.3(PRKAG2):c.1129T>C (p.Leu377=) http://identifiers.org/clinvar/381956 ^@ NM_001101.3(ACTB):c.1044G>A (p.Ser348=) http://identifiers.org/clinvar/389139 ^@ NM_004168.3(SDHA):c.1835G>A (p.Gly612Glu) http://identifiers.org/clinvar/386050 ^@ NM_000048.3(ASL):c.656-14T>A http://identifiers.org/clinvar/385900 ^@ NM_019892.5(INPP5E):c.1875G>A (p.Glu625=) http://identifiers.org/clinvar/385300 ^@ NM_000077.4(CDKN2A):c.*8A>G http://identifiers.org/clinvar/384561 ^@ NM_003165.3(STXBP1):c.1462-13C>G http://identifiers.org/clinvar/390178 ^@ NM_020822.2(KCNT1):c.1612C>T (p.Arg538Cys) http://identifiers.org/clinvar/381856 ^@ NM_004092.3(ECHS1):c.286+8C>T http://identifiers.org/clinvar/392767 ^@ NM_201590.2(CACNB2):c.223C>T (p.His75Tyr) http://identifiers.org/clinvar/133042 ^@ NM_000540.2(RYR1):c.12848A>T (p.Glu4283Val) http://identifiers.org/clinvar/133092 ^@ NM_000540.2(RYR1):c.14804-1G>T http://identifiers.org/clinvar/133142 ^@ NM_000540.2(RYR1):c.5110G>A (p.Gly1704Ser) http://identifiers.org/clinvar/133192 ^@ NM_000540.2(RYR1):c.7261G>C (p.Ala2421Pro) http://identifiers.org/clinvar/133242 ^@ NM_000540.2(RYR1):c.947G>T (p.Arg316Leu) http://identifiers.org/clinvar/133321 ^@ NM_015599.2(PGM3):c.1504G>T (p.Asp502Tyr) http://identifiers.org/clinvar/133384 ^@ NM_001128849.1(SMARCA4):c.2617-86G>A http://identifiers.org/clinvar/133434 ^@ NM_007313.2(ABL1):c.2066A>G (p.Asn689Ser) http://identifiers.org/clinvar/133484 ^@ NM_004304.4(ALK):c.1215A>T (p.Glu405Asp) http://identifiers.org/clinvar/133535 ^@ NM_000038.5(APC):c.8146G>C (p.Val2716Leu) http://identifiers.org/clinvar/133585 ^@ NM_015338.5(ASXL1):c.3662C>A (p.Thr1221Lys) http://identifiers.org/clinvar/133635 ^@ NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) http://identifiers.org/clinvar/133685 ^@ NM_001123383.1(BCOR):c.626C>T (p.Ser209Leu) http://identifiers.org/clinvar/133736 ^@ NM_000059.3(BRCA2):c.5411T>C (p.Val1804Ala) http://identifiers.org/clinvar/134191 ^@ NM_000123.3(ERCC5):c.1738C>T (p.Pro580Ser) http://identifiers.org/clinvar/134241 ^@ NM_000135.2(FANCA):c.1049G>A (p.Arg350Gln) http://identifiers.org/clinvar/135474 ^@ NM_004628.4(XPC):c.2633C>G (p.Ala878Gly) http://identifiers.org/clinvar/135524 ^@ NM_000400.3(ERCC2):c.1119-19C>T http://identifiers.org/clinvar/135575 ^@ NM_005631.4(SMO):c.1939C>T (p.Pro647Ser) http://identifiers.org/clinvar/135650 ^@ NM_002609.3(PDGFRB):c.2083C>T (p.Arg695Cys) http://identifiers.org/clinvar/135709 ^@ NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) http://identifiers.org/clinvar/135761 ^@ NM_000051.3(ATM):c.5639C>T (p.Thr1880Met) http://identifiers.org/clinvar/135819 ^@ NM_000059.3(BRCA2):c.8993C>T (p.Ser2998Phe) http://identifiers.org/clinvar/135869 ^@ NM_000264.3(PTCH1):c.123T>C (p.Arg41=) http://identifiers.org/clinvar/135970 ^@ NM_001127500.2(MET):c.4159T>C (p.Leu1387=) http://identifiers.org/clinvar/136021 ^@ NM_002354.2(EPCAM):c.342C>T (p.Ser114=) http://identifiers.org/clinvar/136071 ^@ NM_005359.5(SMAD4):c.(?_-1)_249+?dup http://identifiers.org/clinvar/136122 ^@ NM_020975.4(RET):c.667G>A (p.Val223Met) http://identifiers.org/clinvar/136172 ^@ NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser) http://identifiers.org/clinvar/136233 ^@ NM_000350.2(ABCA4):c.5018+8A>G http://identifiers.org/clinvar/136284 ^@ NM_001103.3(ACTN2):c.441G>A (p.Ser147=) http://identifiers.org/clinvar/136334 ^@ NM_005751.4(AKAP9):c.5830A>G (p.Ile1944Val) http://identifiers.org/clinvar/136386 ^@ NM_001148.4(ANK2):c.2377-8C>T http://identifiers.org/clinvar/184185 ^@ NM_001042492.2(NF1):c.7755C>T (p.Ser2585=) http://identifiers.org/clinvar/185774 ^@ NM_002878.3(RAD51D):c.824G>A (p.Arg275Gln) http://identifiers.org/clinvar/184685 ^@ NM_007294.3(BRCA1):c.4227G>A (p.Gln1409=) http://identifiers.org/clinvar/186726 ^@ NM_032043.2(BRIP1):c.3651G>A (p.Trp1217Ter) http://identifiers.org/clinvar/185524 ^@ NM_032043.2(BRIP1):c.3436A>G (p.Lys1146Glu) http://identifiers.org/clinvar/186424 ^@ NM_032043.2(BRIP1):c.2097+1G>C http://identifiers.org/clinvar/186474 ^@ NM_032043.2(BRIP1):c.1692T>C (p.Ile564=) http://identifiers.org/clinvar/186074 ^@ NM_032043.2(BRIP1):c.83T>A (p.Met28Lys) http://identifiers.org/clinvar/186826 ^@ NM_000455.4(STK11):c.116G>T (p.Arg39Leu) http://identifiers.org/clinvar/184285 ^@ NM_000455.4(STK11):c.366G>A (p.Lys122=) http://identifiers.org/clinvar/184235 ^@ NM_000455.4(STK11):c.468C>T (p.Tyr156=) http://identifiers.org/clinvar/183985 ^@ NM_007194.3(CHEK2):c.1176G>A (p.Ala392=) http://identifiers.org/clinvar/185924 ^@ NM_007194.3(CHEK2):c.475T>C (p.Tyr159His) http://identifiers.org/clinvar/188468 ^@ NM_004415.3(DSP):c.5194G>A (p.Asp1732Asn) http://identifiers.org/clinvar/188568 ^@ NM_000256.3(MYBPC3):c.2413+2dupT http://identifiers.org/clinvar/188518 ^@ NM_000256.3(MYBPC3):c.67G>C (p.Ala23Pro) http://identifiers.org/clinvar/188618 ^@ NM_000257.3(MYH7):c.2812G>T (p.Ala938Ser) http://identifiers.org/clinvar/188418 ^@ NM_007294.3(BRCA1):c.5193+22C>T http://identifiers.org/clinvar/188668 ^@ NM_000363.4(TNNI3):c.12-52_12-49dupAGAC http://identifiers.org/clinvar/188818 ^@ NM_000642.2(AGL):c.94C>T (p.Gln32Ter) http://identifiers.org/clinvar/188869 ^@ NM_000441.1(SLC26A4):c.2127delT (p.Phe709Leufs) http://identifiers.org/clinvar/189120 ^@ NM_000352.4(ABCC8):c.2124_2127delGACT (p.Thr709Terfs) http://identifiers.org/clinvar/188919 ^@ NM_000352.4(ABCC8):c.1678G>A (p.Val560Met) http://identifiers.org/clinvar/189070 ^@ NM_004004.5(GJB2):c.508_511dupAACG (p.Ala171Glufs) http://identifiers.org/clinvar/188969 ^@ NM_000153.3(GALC):c.1700A>C (p.Tyr567Ser) http://identifiers.org/clinvar/188768 ^@ NM_000382.2(ALDH3A2):c.551C>T (p.Thr184Met) http://identifiers.org/clinvar/188718 ^@ NM_004937.2(CTNS):c.614_616delACG (p.Asp205del) http://identifiers.org/clinvar/189020 ^@ NM_004937.2(CTNS):c.809_811delCCT (p.Ser270del) http://identifiers.org/clinvar/189170 ^@ NM_000487.5(ARSA):c.1223_1231delGTGATACCA (p.Ser408_Thr410del) http://identifiers.org/clinvar/189236 ^@ NM_003573.2(LTBP4):c.254delT (p.Leu85Argfs) http://identifiers.org/clinvar/189288 ^@ NM_014795.3(ZEB2):c.2177_2180delCTTT (p.Ser726Tyrfs) http://identifiers.org/clinvar/189349 ^@ NM_006522.3(WNT6):c.570G>A (p.Arg190=) http://identifiers.org/clinvar/189500 ^@ NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) http://identifiers.org/clinvar/189438 ^@ NM_000314.6(PTEN):c.547_549delAAGinsT (p.Lys183Terfs) http://identifiers.org/clinvar/189610 ^@ NM_005249.4(FOXG1):c.136C>T (p.Gln46Ter) http://identifiers.org/clinvar/189660 ^@ NM_001110792.1(MECP2):c.1188_*29del339 http://identifiers.org/clinvar/189710 ^@ NM_004992.3(MECP2):c.481_987del507ins8 http://identifiers.org/clinvar/189760 ^@ NM_004992.3(MECP2):c.377A>G (p.Asn126Ser) http://identifiers.org/clinvar/189560 ^@ NM_003159.2(CDKL5):c.1550delT (p.Phe517Serfs) http://identifiers.org/clinvar/229185 ^@ NM_001134363.2(RBM20):c.1779A>T (p.Arg593Ser) http://identifiers.org/clinvar/229135 ^@ NM_033056.3(PCDH15):c.1606G>C (p.Ala536Pro) http://identifiers.org/clinvar/229085 ^@ NM_001277269.1(OTOG):c.1991+4C>A http://identifiers.org/clinvar/227595 ^@ NM_000257.3(MYH7):c.2976G>A (p.Leu992=) http://identifiers.org/clinvar/228685 ^@ NM_000138.4(FBN1):c.5225-3C>A http://identifiers.org/clinvar/229285 ^@ NM_001199107.1(TBC1D24):c.621G>C (p.Gln207His) http://identifiers.org/clinvar/227645 ^@ NM_016239.3(MYO15A):c.5568G>A (p.Pro1856=) http://identifiers.org/clinvar/227745 ^@ NM_001042492.2(NF1):c.6366A>G (p.Thr2122=) http://identifiers.org/clinvar/227695 ^@ NM_003803.3(MYOM1):c.2064G>A (p.Thr688=) http://identifiers.org/clinvar/229335 ^@ NM_000363.4(TNNI3):c.624T>G (p.Phe208Leu) http://identifiers.org/clinvar/234451 ^@ NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala) http://identifiers.org/clinvar/234653 ^@ NM_000090.3(COL3A1):c.2490G>A (p.Pro830=) http://identifiers.org/clinvar/234553 ^@ NM_000179.2(MSH6):c.1943G>T (p.Ser648Ile) http://identifiers.org/clinvar/234703 ^@ NM_000179.2(MSH6):c.3802-7_3802-4delTCTT http://identifiers.org/clinvar/234385 ^@ NM_002485.4(NBN):c.1398-10T>A http://identifiers.org/clinvar/234854 ^@ NM_000059.3(BRCA2):c.430G>A (p.Val144Ile) http://identifiers.org/clinvar/234278 ^@ NM_000059.3(BRCA2):c.4067T>C (p.Leu1356Ser) http://identifiers.org/clinvar/234753 ^@ NM_000059.3(BRCA2):c.6894A>T (p.Glu2298Asp) http://identifiers.org/clinvar/234502 ^@ NM_000243.2(MEFV):c.1337A>C (p.Glu446Ala) http://identifiers.org/clinvar/234803 ^@ NM_004360.4(CDH1):c.427C>T (p.Pro143Ser) http://identifiers.org/clinvar/234904 ^@ NM_004360.4(CDH1):c.2547_2548insA (p.Ser850Ilefs) http://identifiers.org/clinvar/234331 ^@ NM_014646.2(LPIN2):c.1099G>A (p.Ala367Thr) http://identifiers.org/clinvar/234603 ^@ NM_000116.4(TAZ):c.778-2A>G http://identifiers.org/clinvar/230387 ^@ NM_003000.2(SDHB):c.566G>T (p.Cys189Phe) http://identifiers.org/clinvar/230087 ^@ NM_000465.3(BARD1):c.159-5A>G http://identifiers.org/clinvar/231576 ^@ NM_000251.2(MSH2):c.1017A>G (p.Gln339=) http://identifiers.org/clinvar/231326 ^@ NM_000251.2(MSH2):c.2032T>C (p.Tyr678His) http://identifiers.org/clinvar/234119 ^@ NM_000249.3(MLH1):c.174_175delGAinsT (p.Leu58Phefs) http://identifiers.org/clinvar/264568 ^@ NM_005902.3(SMAD3):c.1009+5A>C http://identifiers.org/clinvar/264268 ^@ NM_020433.4(JPH2):c.483G>A (p.Thr161=) http://identifiers.org/clinvar/264368 ^@ NM_000071.2(CBS):c.844_845insCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGAT (p.Glu283Serfs) http://identifiers.org/clinvar/263409 ^@ NM_006440.4(TXNRD2):c.246C>T (p.Leu82=) http://identifiers.org/clinvar/263359 ^@ NM_001103.2:c.351T>C http://identifiers.org/clinvar/264733 ^@ NM_001242896.1(DEPDC5):c.1746_1752delCATGCTG (p.Leu584PhefsTer12) http://identifiers.org/clinvar/264938 ^@ NM_000059.3(BRCA2):c.7007+1569A>G http://identifiers.org/clinvar/264888 ^@ NM_000059.3(BRCA2):c.9256+1913G>A http://identifiers.org/clinvar/264788 ^@ NM_007294.3(BRCA1):c.5074+760G>A http://identifiers.org/clinvar/264838 ^@ NM_007294.3(BRCA1):c.81-414_81-413dup http://identifiers.org/clinvar/264990 ^@ NM_015665.5(AAAS):c.1159C>T (p.Gln387Ter) http://identifiers.org/clinvar/265448 ^@ NM_003560.2(PLA2G6):c.2221C>T (p.Arg741Trp) http://identifiers.org/clinvar/265498 ^@ NM_000444.5(PHEX):c.221_222delTG (p.Val74Glyfs) http://identifiers.org/clinvar/265040 ^@ NM_139058.2(ARX):c.989G>A (p.Arg330His) http://identifiers.org/clinvar/265093 ^@ NM_000397.3(CYBB):c.1449G>A (p.Trp483Ter) http://identifiers.org/clinvar/266609 ^@ NM_000059.3(BRCA2):c.1097T>G (p.Leu366Ter) http://identifiers.org/clinvar/266659 ^@ NM_000059.3(BRCA2):c.1787_1799delATGAAACATCTTA (p.Asp596Valfs) http://identifiers.org/clinvar/266709 ^@ NM_000059.3(BRCA2):c.2539dupA (p.Arg847Lysfs) http://identifiers.org/clinvar/266759 ^@ NM_000059.3(BRCA2):c.3564_3567delTAAA (p.Lys1189Glyfs) http://identifiers.org/clinvar/266809 ^@ NM_000059.3(BRCA2):c.4402_4403insA (p.Ser1468Tyrfs) http://identifiers.org/clinvar/266859 ^@ NM_000059.3(BRCA2):c.5205delA (p.Lys1735Asnfs) http://identifiers.org/clinvar/266909 ^@ NM_000059.3(BRCA2):c.5966dupC (p.Asp1990Argfs) http://identifiers.org/clinvar/266959 ^@ NM_000059.3(BRCA2):c.6532_6533insT (p.His2178Leufs) http://identifiers.org/clinvar/267009 ^@ NM_000059.3(BRCA2):c.7425delA (p.Glu2476Asnfs) http://identifiers.org/clinvar/267059 ^@ NM_000059.3(BRCA2):c.8195T>A (p.Leu2732Ter) http://identifiers.org/clinvar/267109 ^@ NM_000059.3(BRCA2):c.8830delA (p.Ile2944Serfs) http://identifiers.org/clinvar/267159 ^@ NM_000059.3(BRCA2):c.9413T>G (p.Leu3138Ter) http://identifiers.org/clinvar/266559 ^@ NM_007294.3(BRCA1):c.5535C>G (p.Tyr1845Ter) http://identifiers.org/clinvar/267229 ^@ NM_015247.2(CYLD):c.911dupC (p.Ala305Serfs) http://identifiers.org/clinvar/267376 ^@ c.2810_2811insCTAG http://identifiers.org/clinvar/267430 ^@ NM_017780.3(CHD7):c.4393C>T (p.Arg1465Ter) http://identifiers.org/clinvar/267666 ^@ NM_000059.3(BRCA2):c.6938-?_7007+?dup http://identifiers.org/clinvar/267716 ^@ NM_000059.3(BRCA2):c.9118-1G>A http://identifiers.org/clinvar/267566 ^@ NM_007294.3(BRCA1):c.4987-2341_5074+2676del http://identifiers.org/clinvar/267516 ^@ NG_005905.2:g.125407_125411delCCATCins3 http://identifiers.org/clinvar/267616 ^@ NM_007294.3(BRCA1):c.671-26_1781del http://identifiers.org/clinvar/267795 ^@ NM_138704.3(NSMCE3):c.790C>T (p.Leu264Phe) http://identifiers.org/clinvar/267846 ^@ 46;X;t(X;17)(q22;p13.3)dn http://identifiers.org/clinvar/267896 ^@ 46;XX;t(2;8)(q33;p21)dn http://identifiers.org/clinvar/267946 ^@ 46;XX;inv(4)(q34.2q35.2).ish http://identifiers.org/clinvar/280412 ^@ NM_002016.1(FLG):c.1063C>T (p.Gln355Ter) http://identifiers.org/clinvar/291088 ^@ NM_022168.3(IFIH1):c.1166G>A (p.Gly389Glu) http://identifiers.org/clinvar/291554 ^@ NM_001854.3(COL11A1):c.-50A>G http://identifiers.org/clinvar/293556 ^@ NM_000130.4(F5):c.*873C>T http://identifiers.org/clinvar/293856 ^@ NM_033343.3(LHX4):c.-120C>T http://identifiers.org/clinvar/293656 ^@ NM_152281.2(GORAB):c.597-9A>T http://identifiers.org/clinvar/293706 ^@ NM_000261.1(MYOC):c.*182C>A http://identifiers.org/clinvar/294056 ^@ NM_005562.2(LAMC2):c.*1617A>G http://identifiers.org/clinvar/294006 ^@ NM_005562.2(LAMC2):c.1675G>A (p.Gly559Arg) http://identifiers.org/clinvar/294106 ^@ NM_031935.2(HMCN1):c.1266C>G (p.Ser422=) http://identifiers.org/clinvar/293606 ^@ NM_000130.4(F5):c.3455A>C (p.Glu1152Ala) http://identifiers.org/clinvar/293806 ^@ NM_022089.3(ATP13A2):c.-170C>T http://identifiers.org/clinvar/293756 ^@ NM_000639.2(FASLG):c.*754G>A http://identifiers.org/clinvar/293956 ^@ NM_002065.6(GLUL):c.-262C>G http://identifiers.org/clinvar/293906 ^@ NM_002065.6(GLUL):c.*1762A>G http://identifiers.org/clinvar/344237 ^@ NM_181426.1(CCDC39):c.*753G>A http://identifiers.org/clinvar/336301 ^@ NM_001430.4(EPAS1):c.*814dupA http://identifiers.org/clinvar/335901 ^@ NM_001011.3(RPS7):c.-13C>T http://identifiers.org/clinvar/336001 ^@ NM_005633.3(SOS1):c.*909G>A http://identifiers.org/clinvar/336408 ^@ NM_002354.2(EPCAM):c.21C>A (p.Leu7=) http://identifiers.org/clinvar/344537 ^@ NM_000461.4(THRB):c.*5367C>T http://identifiers.org/clinvar/344737 ^@ NM_015141.3(GPD1L):c.*335A>T http://identifiers.org/clinvar/336251 ^@ NM_001430.4(EPAS1):c.779+8G>T http://identifiers.org/clinvar/336758 ^@ NM_015910.5(WDPCP):c.2169G>C (p.Leu723=) http://identifiers.org/clinvar/336808 ^@ NM_002056.3(GFPT1):c.*4053T>A http://identifiers.org/clinvar/336858 ^@ NM_002056.3(GFPT1):c.*867G>A http://identifiers.org/clinvar/344137 ^@ NM_000340.1(SLC2A2):c.*1257C>T http://identifiers.org/clinvar/345087 ^@ NM_198056.2(SCN5A):c.*963C>T http://identifiers.org/clinvar/336908 ^@ NM_001004311.3(FIGLA):c.443C>T (p.Ser148Leu) http://identifiers.org/clinvar/344287 ^@ NM_145261.3(DNAJC19):c.*645A>C http://identifiers.org/clinvar/336558 ^@ NM_001135659.2(NRXN1):c.-209A>G http://identifiers.org/clinvar/344337 ^@ NM_003907.2(EIF2B5):c.1621C>T (p.Arg541Trp) http://identifiers.org/clinvar/344387 ^@ NM_003722.4(TP63):c.1374A>G (p.Ser458=) http://identifiers.org/clinvar/344437 ^@ NM_003722.4(TP63):c.*2636delA http://identifiers.org/clinvar/344487 ^@ NM_015560.2(OPA1):c.2166+10T>C http://identifiers.org/clinvar/337058 ^@ NM_212552.2(BOLA3):c.137G>A (p.Arg46Gln) http://identifiers.org/clinvar/344837 ^@ NM_006371.4(CRTAP):c.*1460C>T http://identifiers.org/clinvar/344887 ^@ NM_006371.4(CRTAP):c.*4647T>A http://identifiers.org/clinvar/337108 ^@ NM_006302.2(MOGS):c.1587C>T (p.Asp529=) http://identifiers.org/clinvar/344937 ^@ NM_001106.3(ACVR2B):c.*744T>C http://identifiers.org/clinvar/337158 ^@ NM_003849.3(SUCLG1):c.242A>G (p.Lys81Arg) http://identifiers.org/clinvar/337408 ^@ NM_004836.6(EIF2AK3):c.2073T>C (p.Asp691=) http://identifiers.org/clinvar/337258 ^@ NM_000821.6(GGCX):c.2084+12delA http://identifiers.org/clinvar/345137 ^@ NM_017875.2(SLC25A38):c.-227G>A http://identifiers.org/clinvar/345287 ^@ NM_182760.3(SUMF1):c.*949G>A http://identifiers.org/clinvar/337558 ^@ NM_014014.4(SNRNP200):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/345337 ^@ NM_002222.5(ITPR1):c.-2A>G http://identifiers.org/clinvar/346976 ^@ NM_000097.5(CPOX):c.1054C>T (p.Arg352Cys) http://identifiers.org/clinvar/347076 ^@ NM_005908.3(MANBA):c.*8T>G http://identifiers.org/clinvar/347376 ^@ NM_003619.3(PRSS12):c.*842C>G http://identifiers.org/clinvar/347726 ^@ NM_000901.4(NR3C2):c.1791A>G (p.Ser597=) http://identifiers.org/clinvar/343148 ^@ NM_032638.4(GATA2):c.-276T>G http://identifiers.org/clinvar/343348 ^@ NM_014382.3(ATP2C1):c.*1471T>A http://identifiers.org/clinvar/343198 ^@ NM_014049.4(ACAD9):c.1258C>T (p.Arg420Cys) http://identifiers.org/clinvar/343248 ^@ NM_052985.3(IFT122):c.2171G>A (p.Arg724Gln) http://identifiers.org/clinvar/348026 ^@ NM_001166108.1(PALLD):c.65A>G (p.Lys22Arg) http://identifiers.org/clinvar/361881 ^@ NM_004519.3(KCNQ3):c.170T>C (p.Leu57Pro) http://identifiers.org/clinvar/361931 ^@ NM_003235.4(TG):c.2761+11G>T http://identifiers.org/clinvar/361981 ^@ NM_003235.4(TG):c.5976-15C>T http://identifiers.org/clinvar/362031 ^@ NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) http://identifiers.org/clinvar/362131 ^@ NM_000497.3(CYP11B1):c.*670A>C http://identifiers.org/clinvar/362381 ^@ NM_177924.4(ASAH1):c.372T>A (p.Asp124Glu) http://identifiers.org/clinvar/362431 ^@ NM_000237.2(LPL):c.*846G>C http://identifiers.org/clinvar/362531 ^@ NM_005144.4(HR):c.120G>A (p.Pro40=) http://identifiers.org/clinvar/362581 ^@ NM_006129.4(BMP1):c.1178G>A (p.Arg393Gln) http://identifiers.org/clinvar/362631 ^@ NM_006158.4(NEFL):c.*856T>C http://identifiers.org/clinvar/354553 ^@ NM_002397.4(MEF2C):c.*3387A>T http://identifiers.org/clinvar/362681 ^@ NM_000742.3(CHRNA2):c.*771C>T http://identifiers.org/clinvar/354403 ^@ NM_004385.4(VCAN):c.2159T>C (p.Val720Ala) http://identifiers.org/clinvar/354603 ^@ NM_002397.4(MEF2C):c.-522C>A http://identifiers.org/clinvar/362781 ^@ NM_000553.4(WRN):c.-297dupG http://identifiers.org/clinvar/362881 ^@ NM_023110.2(FGFR1):c.*723G>C http://identifiers.org/clinvar/354953 ^@ NM_014028.3(OSTM1):c.*1932dupT http://identifiers.org/clinvar/355154 ^@ NM_000165.4(GJA1):c.-188G>T http://identifiers.org/clinvar/359732 ^@ NM_032581.3(FAM126A):c.*2381_*2382delAT http://identifiers.org/clinvar/355204 ^@ NM_006073.3(TRDN):c.*496A>T http://identifiers.org/clinvar/359782 ^@ NM_032581.3(FAM126A):c.356A>G (p.His119Arg) http://identifiers.org/clinvar/355254 ^@ NM_000426.3(LAMA2):c.1716G>C (p.Ala572=) http://identifiers.org/clinvar/355704 ^@ NM_203395.2(IYD):c.*792C>T http://identifiers.org/clinvar/355504 ^@ NM_017651.4(AHI1):c.1911T>G (p.Ile637Met) http://identifiers.org/clinvar/364570 ^@ NM_003640.4(IKBKAP):c.1878C>T (p.Asp626=) http://identifiers.org/clinvar/360482 ^@ NM_005228.4(EGFR):c.*774T>C http://identifiers.org/clinvar/356154 ^@ NM_001080.3(ALDH5A1):c.*696T>C http://identifiers.org/clinvar/364920 ^@ NM_002316.3(LMX1B):c.*1266T>G http://identifiers.org/clinvar/364970 ^@ NM_002316.3(LMX1B):c.*3379C>T http://identifiers.org/clinvar/356004 ^@ NM_004562.2(PRKN):c.*887_*890delGATA http://identifiers.org/clinvar/365120 ^@ NM_003863.3(DPM2):c.-319G>A http://identifiers.org/clinvar/360832 ^@ NM_005751.4(AKAP9):c.5725G>A (p.Ala1909Thr) http://identifiers.org/clinvar/360882 ^@ NM_194456.1(KRIT1):c.2080_2085delGATACT (p.Asp694_Thr695del) http://identifiers.org/clinvar/360932 ^@ NM_000466.2(PEX1):c.129+10C>T http://identifiers.org/clinvar/365370 ^@ NM_015046.5(SETX):c.1693T>C (p.Phe565Leu) http://identifiers.org/clinvar/357143 ^@ NM_001024630.3(RUNX2):c.*3329T>C http://identifiers.org/clinvar/356993 ^@ NM_006502.2(POLH):c.*4393_*4397delTATTT http://identifiers.org/clinvar/361781 ^@ NM_004519.3(KCNQ3):c.*6199C>T http://identifiers.org/clinvar/357043 ^@ NM_020745.3(AARS2):c.*633_*634insGGTATGGGTGCCCT http://identifiers.org/clinvar/361831 ^@ NM_004519.3(KCNQ3):c.*3216G>C http://identifiers.org/clinvar/357243 ^@ NM_000255.3(MUT):c.*558A>G http://identifiers.org/clinvar/303162 ^@ NM_018400.3(SCN3B):c.*1927A>G http://identifiers.org/clinvar/303462 ^@ NM_016952.4(CDON):c.*1429C>T http://identifiers.org/clinvar/303512 ^@ NM_016952.4(CDON):c.1818G>T (p.Leu606=) http://identifiers.org/clinvar/311760 ^@ NM_015087.4(SPG20):c.*451G>A http://identifiers.org/clinvar/311810 ^@ NM_001127217.2(SMAD9):c.*3768_*3770delAAC http://identifiers.org/clinvar/303762 ^@ NM_000352.4(ABCC8):c.3552G>A (p.Ala1184=) http://identifiers.org/clinvar/311910 ^@ NM_001127217.2(SMAD9):c.-141C>T http://identifiers.org/clinvar/311960 ^@ NM_207361.5(FREM2):c.2749G>A (p.Glu917Lys) http://identifiers.org/clinvar/303962 ^@ NM_003476.4(CSRP3):c.-182delT http://identifiers.org/clinvar/298534 ^@ NM_022039.3(FBXW4):c.770+13T>G http://identifiers.org/clinvar/312210 ^@ NM_014252.3(SLC25A15):c.*1945G>A http://identifiers.org/clinvar/367549 ^@ NM_006415.3(SPTLC1):c.640A>G (p.Met214Val) http://identifiers.org/clinvar/304262 ^@ NM_000218.2(KCNQ1):c.*875A>G http://identifiers.org/clinvar/298734 ^@ NM_000494.3(COL17A1):c.1375G>A (p.Gly459Ser) http://identifiers.org/clinvar/298834 ^@ NM_001134363.2(RBM20):c.*1723G>A http://identifiers.org/clinvar/299034 ^@ NM_001099667.1(ARMS2):c.*15A>G http://identifiers.org/clinvar/299184 ^@ NM_000375.2(UROS):c.*99A>G http://identifiers.org/clinvar/299234 ^@ NM_021980.4(OPTN):c.*1063C>A http://identifiers.org/clinvar/313310 ^@ NM_015915.4(ATL1):c.*305T>C http://identifiers.org/clinvar/299284 ^@ NM_001033855.2(DCLRE1C):c.*878C>T http://identifiers.org/clinvar/298884 ^@ NM_007373.3(SHOC2):c.*1487delG http://identifiers.org/clinvar/299334 ^@ NM_001081.3(CUBN):c.*470T>C http://identifiers.org/clinvar/299084 ^@ NM_001609.3(ACADSB):c.1128+3A>T http://identifiers.org/clinvar/314299 ^@ NM_000428.2(LTBP2):c.2541A>G (p.Arg847=) http://identifiers.org/clinvar/314699 ^@ NM_000369.2(TSHR):c.*18C>A http://identifiers.org/clinvar/315449 ^@ NM_022807.4(SNRPN):c.-39G>A http://identifiers.org/clinvar/300623 ^@ NM_004273.4(CHST3):c.*1960G>A http://identifiers.org/clinvar/300673 ^@ NM_004273.4(CHST3):c.*4495G>A http://identifiers.org/clinvar/300873 ^@ NM_012330.3(KAT6B):c.3033A>G (p.Leu1011=) http://identifiers.org/clinvar/309766 ^@ NM_001173467.2(SP7):c.140C>T (p.Pro47Leu) http://identifiers.org/clinvar/309966 ^@ NM_000075.3(CDK4):c.*690G>A http://identifiers.org/clinvar/310166 ^@ NM_002076.3(GNS):c.*2783C>T http://identifiers.org/clinvar/310316 ^@ NM_021150.3(GRIP1):c.-158G>A http://identifiers.org/clinvar/310721 ^@ NM_002108.3(HAL):c.423A>T (p.Thr141=) http://identifiers.org/clinvar/312310 ^@ NM_000321.2(RB1):c.*788C>A http://identifiers.org/clinvar/310921 ^@ NM_000123.3(ERCC5):c.1287T>C (p.Asp429=) http://identifiers.org/clinvar/338247 ^@ NM_032034.3(SLC4A11):c.1467G>A (p.Ser489=) http://identifiers.org/clinvar/338297 ^@ NM_000178.3(GSS):c.1158G>A (p.Leu386=) http://identifiers.org/clinvar/312760 ^@ NM_001145.4(ANG):c.-579G>C http://identifiers.org/clinvar/312810 ^@ NM_001126106.2(SLC7A7):c.1405C>T (p.Pro469Ser) http://identifiers.org/clinvar/338497 ^@ NM_000457.4(HNF4A):c.*3142delA http://identifiers.org/clinvar/338547 ^@ NM_004994.2(MMP9):c.464C>T (p.Thr155Ile) http://identifiers.org/clinvar/338697 ^@ NM_006420.2(ARFGEF2):c.3900C>T (p.Tyr1300=) http://identifiers.org/clinvar/338998 ^@ NM_004738.4(VAPB):c.*4868C>T http://identifiers.org/clinvar/313260 ^@ NM_002408.3(MGAT2):c.*310A>G http://identifiers.org/clinvar/311710 ^@ NM_004795.3(KL):c.*8C>T http://identifiers.org/clinvar/320591 ^@ NM_021615.4(CHST6):c.*588T>G http://identifiers.org/clinvar/339198 ^@ NM_017671.4(FERMT1):c.*266A>C http://identifiers.org/clinvar/311860 ^@ NM_001127217.2(SMAD9):c.*1224A>G http://identifiers.org/clinvar/339248 ^@ NM_017671.4(FERMT1):c.-354G>C http://identifiers.org/clinvar/339298 ^@ NM_001853.3(COL9A3):c.1573A>G (p.Ile525Val) http://identifiers.org/clinvar/320741 ^@ NM_012213.2(MLYCD):c.*27C>T http://identifiers.org/clinvar/320791 ^@ NM_001451.2(FOXF1):c.645C>T (p.His215=) http://identifiers.org/clinvar/339548 ^@ NM_015192.3(PLCB1):c.*2510C>T http://identifiers.org/clinvar/320941 ^@ NM_001127464.2(ZNF469):c.5464C>A (p.Pro1822Thr) http://identifiers.org/clinvar/312110 ^@ NM_207361.5(FREM2):c.*5615_*5616insG http://identifiers.org/clinvar/339598 ^@ NM_000933.3(PLCB4):c.*209A>C http://identifiers.org/clinvar/321191 ^@ NM_000512.4(GALNS):c.1247T>C (p.Ile416Thr) http://identifiers.org/clinvar/321291 ^@ NM_003119.3(SPG7):c.*97G>A http://identifiers.org/clinvar/321341 ^@ NM_000135.2(FANCA):c.3138C>T (p.His1046=) http://identifiers.org/clinvar/321441 ^@ NM_002386.3(MC1R):c.819C>T (p.Cys273=) http://identifiers.org/clinvar/312360 ^@ NM_000053.3(ATP7B):c.*1036C>T http://identifiers.org/clinvar/367799 ^@ NM_001167.3(XIAP):c.*482G>A http://identifiers.org/clinvar/367849 ^@ NM_001167.3(XIAP):c.*5295A>T http://identifiers.org/clinvar/368149 ^@ NM_014332.2(SMPX):c.*395T>G http://identifiers.org/clinvar/368199 ^@ NM_004006.2(DMD):c.*2314T>C http://identifiers.org/clinvar/368399 ^@ NM_007137.3(ZNF81):c.*55C>G http://identifiers.org/clinvar/327422 ^@ NM_000140.3(FECH):c.*60T>C http://identifiers.org/clinvar/368449 ^@ NM_007137.3(ZNF81):c.*5422A>G http://identifiers.org/clinvar/327522 ^@ NM_013435.2(RAX):c.*917C>T http://identifiers.org/clinvar/327572 ^@ NM_005570.3(LMAN1):c.846G>A (p.Ser282=) http://identifiers.org/clinvar/368649 ^@ NM_002637.3(PHKA1):c.868C>T (p.Arg290Cys) http://identifiers.org/clinvar/327672 ^@ NM_133459.3(CCBE1):c.*1434C>G http://identifiers.org/clinvar/327772 ^@ NM_005786.5(TSHZ1):c.-433_-432dupGG http://identifiers.org/clinvar/327822 ^@ NM_005786.5(TSHZ1):c.1404G>T (p.Ala468=) http://identifiers.org/clinvar/327872 ^@ NM_021074.4(NDUFV2):c.-94A>T http://identifiers.org/clinvar/327972 ^@ NM_001005360.2(DNM2):c.-19G>T http://identifiers.org/clinvar/328372 ^@ NM_000435.2(NOTCH3):c.6532C>T (p.Pro2178Ser) http://identifiers.org/clinvar/328422 ^@ NM_173483.3(CYP4F22):c.-123G>A http://identifiers.org/clinvar/338597 ^@ NM_030777.3(SLC2A10):c.1489G>A (p.Val497Ile) http://identifiers.org/clinvar/338747 ^@ NM_006420.2(ARFGEF2):c.*3486T>A http://identifiers.org/clinvar/339098 ^@ NM_001001433.2(STX16):c.*2348delC http://identifiers.org/clinvar/339448 ^@ NM_025219.2(DNAJC5):c.*4454G>A http://identifiers.org/clinvar/338347 ^@ NM_015474.3(SAMHD1):c.401G>A (p.Arg134Gln) http://identifiers.org/clinvar/338647 ^@ NM_000311.4(PRNP):c.204T>C (p.Pro68=) http://identifiers.org/clinvar/338798 ^@ NM_000782.4(CYP24A1):c.*712_*713delGT http://identifiers.org/clinvar/338898 ^@ NM_002591.3(PCK1):c.*120T>G http://identifiers.org/clinvar/392817 ^@ NM_032634.3(PIGO):c.2165C>T (p.Ala722Val) http://identifiers.org/clinvar/382908 ^@ NM_020822.2(KCNT1):c.434+10G>A http://identifiers.org/clinvar/386550 ^@ NM_203447.3(DOCK8):c.4346C>T (p.Ser1449Leu) http://identifiers.org/clinvar/383860 ^@ NM_020822.2(KCNT1):c.3495C>T (p.Thr1165=) http://identifiers.org/clinvar/388289 ^@ NM_000193.3(SHH):c.475G>A (p.Gly159Ser) http://identifiers.org/clinvar/382658 ^@ NM_002047.3(GARS):c.366A>G (p.Ala122=) http://identifiers.org/clinvar/383008 ^@ NM_001101.3(ACTB):c.985-6C>T http://identifiers.org/clinvar/388189 ^@ NM_001909.4(CTSD):c.*17G>A http://identifiers.org/clinvar/393167 ^@ NM_004519.3(KCNQ3):c.2035G>A (p.Asp679Asn) http://identifiers.org/clinvar/383960 ^@ NM_004329.2(BMPR1A):c.27A>G (p.Arg9=) http://identifiers.org/clinvar/380564 ^@ NM_000314.6(PTEN):c.216T>C (p.Ala72=) http://identifiers.org/clinvar/391628 ^@ NM_016938.4(EFEMP2):c.321C>A (p.Asn107Lys) http://identifiers.org/clinvar/388789 ^@ NM_000391.3(TPP1):c.1146-18G>A http://identifiers.org/clinvar/382257 ^@ NM_006231.3(POLE):c.3379-12C>T http://identifiers.org/clinvar/388239 ^@ NM_006231.3(POLE):c.2562-20G>C http://identifiers.org/clinvar/388089 ^@ NM_000834.3(GRIN2B):c.1080G>T (p.Pro360=) http://identifiers.org/clinvar/388389 ^@ NM_004408.3(DNM1):c.1524G>A (p.Lys508=) http://identifiers.org/clinvar/382106 ^@ NM_016035.4(COQ4):c.614G>A (p.Arg205Gln) http://identifiers.org/clinvar/384110 ^@ NM_004572.3(PKP2):c.1688+10C>T http://identifiers.org/clinvar/389039 ^@ NM_003156.3(STIM1):c.1138-8C>T http://identifiers.org/clinvar/385650 ^@ NM_000256.3(MYBPC3):c.927-10C>G http://identifiers.org/clinvar/391678 ^@ NM_006231.3(POLE):c.3159C>T (p.Ser1053=) http://identifiers.org/clinvar/388039 ^@ NM_000834.3(GRIN2B):c.1881C>T (p.Thr627=) http://identifiers.org/clinvar/386200 ^@ NM_004985.4(KRAS):c.451-5604T>C http://identifiers.org/clinvar/388139 ^@ NM_003480.3(MFAP5):c.6G>A (p.Ser2=) http://identifiers.org/clinvar/382808 ^@ NM_000138.4(FBN1):c.736+9G>A http://identifiers.org/clinvar/380514 ^@ NM_005050.3(ABCD4):c.669-13T>G http://identifiers.org/clinvar/393117 ^@ NM_014080.4(DUOX2):c.2504G>A (p.Gly835Asp) http://identifiers.org/clinvar/382457 ^@ NM_153603.3(COG7):c.534G>A (p.Glu178=) http://identifiers.org/clinvar/388939 ^@ NM_030962.3(SBF2):c.*20C>G http://identifiers.org/clinvar/386350 ^@ NM_001605.2(AARS):c.2532G>A (p.Lys844=) http://identifiers.org/clinvar/389189 ^@ NM_174917.4(ACSF3):c.-29G>C http://identifiers.org/clinvar/392717 ^@ NM_006231.3(POLE):c.3933T>C (p.Pro1311=) http://identifiers.org/clinvar/387000 ^@ NM_000548.4(TSC2):c.3814+15G>A http://identifiers.org/clinvar/47465 ^@ NM_001256850.1(TTN):c.82700A>T (p.Tyr27567Phe) http://identifiers.org/clinvar/47515 ^@ NM_133378.4(TTN):c.84148+8T>A http://identifiers.org/clinvar/47565 ^@ NM_001256850.1(TTN):c.8843C>T (p.Ser2948Leu) http://identifiers.org/clinvar/47615 ^@ NM_133378.4(TTN):c.9160G>A (p.Glu3054Lys) http://identifiers.org/clinvar/47665 ^@ NM_133379.4(TTN):c.*265+212679C>T http://identifiers.org/clinvar/47715 ^@ NM_001256850.1(TTN):c.101934C>T (p.Asn33978=) http://identifiers.org/clinvar/47765 ^@ NM_133379.4(TTN):c.13948C>T (p.Pro4650Ser) http://identifiers.org/clinvar/47815 ^@ NM_133432.3(TTN):c.11323G>A (p.Ala3775Thr) http://identifiers.org/clinvar/47865 ^@ NM_138691.2(TMC1):c.1988A>G (p.Asp663Gly) http://identifiers.org/clinvar/47915 ^@ NM_144573.3(NEXN):c.995A>C (p.Glu332Ala) http://identifiers.org/clinvar/47965 ^@ NM_152594.2(SPRED1):c.124G>A (p.Val42Ile) http://identifiers.org/clinvar/48017 ^@ NM_153676.3(USH1C):c.496+21G>T http://identifiers.org/clinvar/48067 ^@ NM_170707.3(LMNA):c.448A>C (p.Thr150Pro) http://identifiers.org/clinvar/48117 ^@ NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) http://identifiers.org/clinvar/48167 ^@ NM_194248.2(OTOF):c.129C>T (p.Asp43=) http://identifiers.org/clinvar/48217 ^@ NM_194248.2(OTOF):c.3507G>A (p.Ser1169=) http://identifiers.org/clinvar/48267 ^@ NM_194248.2(OTOF):c.5712+6C>G http://identifiers.org/clinvar/48317 ^@ NM_000335.4(SCN5A):c.756T>C (p.Asp252=) http://identifiers.org/clinvar/48368 ^@ NM_206933.2(USH2A):c.11225A>G (p.Asn3742Ser) http://identifiers.org/clinvar/48418 ^@ NM_206933.2(USH2A):c.13404A>G (p.Arg4468=) http://identifiers.org/clinvar/48468 ^@ NM_206933.2(USH2A):c.15562A>G (p.Ser5188Gly) http://identifiers.org/clinvar/48520 ^@ NM_007123.5(USH2A):c.4586A>T (p.Lys1529Ile) http://identifiers.org/clinvar/4 ^@ NM_014630.2(ZNF592):c.3136G>A (p.Gly1046Arg) http://identifiers.org/clinvar/5 ^@ NM_017547.3(FOXRED1):c.694C>T (p.Gln232Ter) http://identifiers.org/clinvar/45 ^@ NM_015910.5(WDPCP):c.76-1G>T http://identifiers.org/clinvar/65 ^@ NM_000374.4(UROD):c.842G>T (p.Gly281Val) http://identifiers.org/clinvar/202 ^@ NM_001195302.1(USB1):c.629_639+1del12 http://identifiers.org/clinvar/243 ^@ NM_000398.6(CYB5R3):c.895_897delTTC (p.Phe299del) http://identifiers.org/clinvar/509 ^@ NM_001142446.1(ANK1):c.5286G>A (p.Trp1762Ter) http://identifiers.org/clinvar/700 ^@ NM_000512.4(GALNS):c.1156C>T (p.Arg386Cys) http://identifiers.org/clinvar/723 ^@ NM_000015.2(NAT2):c.341T>C (p.Ile114Thr) http://identifiers.org/clinvar/1106 ^@ NM_000642.2(AGL):c.1222C>T (p.Arg408Ter) http://identifiers.org/clinvar/1157 ^@ NM_001166686.1(PFKM):c.329G>T (p.Arg110Leu) http://identifiers.org/clinvar/1886 ^@ NM_000255.3(MUT):c.655A>T (p.Asn219Tyr) http://identifiers.org/clinvar/1930 ^@ NM_020166.4(MCCC1):c.1155A>C (p.Arg385Ser) http://identifiers.org/clinvar/1976 ^@ NM_000022.3(ADA):c.33+1G>C http://identifiers.org/clinvar/2065 ^@ NM_018100.3(EFHC1):c.628G>A (p.Asp210Asn) http://identifiers.org/clinvar/2110 ^@ NM_001931.4(DLAT):c.1728C>A (p.Phe576Leu) http://identifiers.org/clinvar/2156 ^@ NM_017929.5(PEX26):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/2202 ^@ NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter) http://identifiers.org/clinvar/2248 ^@ NM_000433.3(NCF2):c.1183C>T (p.Arg395Trp) http://identifiers.org/clinvar/2339 ^@ NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) http://identifiers.org/clinvar/2385 ^@ SLC36A2, IVS1, G-A, +1 http://identifiers.org/clinvar/2475 ^@ NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter) http://identifiers.org/clinvar/2520 ^@ NM_144599.4(NIPA1):c.134C>G (p.Thr45Arg) http://identifiers.org/clinvar/2569 ^@ NM_006493.2(CLN5):c.377G>A (p.Cys126Tyr) http://identifiers.org/clinvar/2614 ^@ NM_001128085.1(ASPA):c.71A>G (p.Glu24Gly) http://identifiers.org/clinvar/2660 ^@ NM_198428.2(BBS9):c.1063C>T (p.Gln355Ter) http://identifiers.org/clinvar/2706 ^@ NM_021098.2(CACNA1H):c.2626G>A (p.Ala876Thr) http://identifiers.org/clinvar/2752 ^@ LEMD3, 457C-T http://identifiers.org/clinvar/2798 ^@ GNPTG, IVS8AS, A-G, -2 http://identifiers.org/clinvar/2842 ^@ NM_000019.3(ACAT1):c.1083dupA (p.Ala362Serfs) http://identifiers.org/clinvar/2889 ^@ NM_000419.4(ITGA2B):c.409-2_419delAGGCCTGCGCCCC http://identifiers.org/clinvar/2933 ^@ NM_002076.3(GNS):c.1169delA (p.Gln390Argfs) http://identifiers.org/clinvar/2979 ^@ NM_000271.4(NPC1):c.3611_3614delTTAC (p.Leu1204Glnfs) http://identifiers.org/clinvar/3023 ^@ NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) http://identifiers.org/clinvar/10236 ^@ NM_000132.3(F8):c.1834C>T (p.Arg612Cys) http://identifiers.org/clinvar/10281 ^@ NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) http://identifiers.org/clinvar/10326 ^@ NM_000132.3(F8):c.6699delG (p.Arg2234Glyfs) http://identifiers.org/clinvar/10373 ^@ NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) http://identifiers.org/clinvar/10423 ^@ NM_002049.3(GATA1):c.613G>A (p.Val205Met) http://identifiers.org/clinvar/10471 ^@ NM_000032.4(ALAS2):c.871G>A (p.Gly291Ser) http://identifiers.org/clinvar/10517 ^@ NM_000273.2(GPR143):c.455G>A (p.Ser152Asn) http://identifiers.org/clinvar/10562 ^@ F9, ILE-40PHE http://identifiers.org/clinvar/10607 ^@ NM_000133.3(F9):c.1025C>T (p.Thr342Met) http://identifiers.org/clinvar/10652 ^@ NM_000133.3(F9):c.872A>T (p.Glu291Val) http://identifiers.org/clinvar/10699 ^@ NM_000266.3(NDP):c.302C>T (p.Ser101Phe) http://identifiers.org/clinvar/10743 ^@ NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) http://identifiers.org/clinvar/10789 ^@ NM_194277.2(FRMD7):c.685C>G (p.Arg229Gly) http://identifiers.org/clinvar/10833 ^@ FGD1, 1-BP INS, 945C http://identifiers.org/clinvar/10879 ^@ NM_000284.3(PDHA1):c.904C>T (p.Arg302Cys) http://identifiers.org/clinvar/10924 ^@ NM_000397.3(CYBB):c.731G>C (p.Cys244Ser) http://identifiers.org/clinvar/10970 ^@ NR0B1, 1-BP DEL, 501A http://identifiers.org/clinvar/11014 ^@ NM_000531.5(OTC):c.119G>A (p.Arg40His) http://identifiers.org/clinvar/11104 ^@ TAZ, 1-BP DEL http://identifiers.org/clinvar/11240 ^@ DMD, 1-BP INS, 402A http://identifiers.org/clinvar/11286 ^@ NM_004006.2(DMD):c.9225-285A>G http://identifiers.org/clinvar/11330 ^@ NM_001109878.1(TBX22):c.352G>T (p.Gly118Cys) http://identifiers.org/clinvar/11377 ^@ NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) http://identifiers.org/clinvar/11435 ^@ NM_003413.3(ZIC3):c.1222A>T (p.Lys408Ter) http://identifiers.org/clinvar/11486 ^@ EBP, IVS3DS, G-T, +1 http://identifiers.org/clinvar/11537 ^@ NM_003611.2(OFD1):c.1303A>C (p.Ser435Arg) http://identifiers.org/clinvar/11587 ^@ NM_001363.4(DKC1):c.1058C>T (p.Ala353Val) http://identifiers.org/clinvar/11637 ^@ nsv513796 http://identifiers.org/clinvar/11688 ^@ NM_004484.3(GPC3):c.1292+1G>T http://identifiers.org/clinvar/11739 ^@ NM_000489.4(ATRX):c.4862C>T (p.Thr1621Met) http://identifiers.org/clinvar/11790 ^@ ATP7A, 8-BP DEL, NT408 http://identifiers.org/clinvar/11840 ^@ MECP2, 2-BP DEL, 488GG http://identifiers.org/clinvar/11890 ^@ NM_000128.3(F11):c.1716+1G>A http://identifiers.org/clinvar/11940 ^@ BCKDHB, 4-BP DEL, IVS9 http://identifiers.org/clinvar/11991 ^@ GLDC, 2607C-A http://identifiers.org/clinvar/12042 ^@ FANCD2, EX17 DEL http://identifiers.org/clinvar/13509 ^@ NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) http://identifiers.org/clinvar/13559 ^@ NM_000212.2(ITGB3):c.1297C>G (p.Pro433Ala) http://identifiers.org/clinvar/37629 ^@ NM_007294.3(BRCA1):c.5074+1G>A http://identifiers.org/clinvar/37683 ^@ NM_007294.3(BRCA1):c.5578dupC (p.His1860Profs) http://identifiers.org/clinvar/37737 ^@ NM_000059.3(BRCA2):c.1310_1313delAAGA (p.Lys437Ilefs) http://identifiers.org/clinvar/37789 ^@ NM_000059.3(BRCA2):c.2507C>T (p.Pro836Leu) http://identifiers.org/clinvar/37842 ^@ NM_000059.3(BRCA2):c.3453C>G (p.Ile1151Met) http://identifiers.org/clinvar/37894 ^@ NM_000059.3(BRCA2):c.4319_4320delAA (p.Lys1440Argfs) http://identifiers.org/clinvar/37948 ^@ NM_000059.3(BRCA2):c.5164A>T (p.Ser1722Cys) http://identifiers.org/clinvar/38000 ^@ NM_000059.3(BRCA2):c.582G>A (p.Trp194Ter) http://identifiers.org/clinvar/38052 ^@ NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) http://identifiers.org/clinvar/38105 ^@ NM_000059.3(BRCA2):c.7567_7568delCT (p.Leu2523Glufs) http://identifiers.org/clinvar/38155 ^@ NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) http://identifiers.org/clinvar/38205 ^@ NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) http://identifiers.org/clinvar/38255 ^@ NM_000059.3(BRCA2):c.9616C>G (p.Gln3206Glu) http://identifiers.org/clinvar/38317 ^@ NM_000168.5(GLI3):c.2567C>A (p.Ser856Ter) http://identifiers.org/clinvar/38374 ^@ NM_005211.3(CSF1R):c.2297T>C (p.Met766Thr) http://identifiers.org/clinvar/38429 ^@ NM_024312.4(GNPTAB):c.3613C>T (p.Arg1205Ter) http://identifiers.org/clinvar/38577 ^@ NM_000060.4(BTD):c.1237G>A (p.Gly413Ser) http://identifiers.org/clinvar/38757 ^@ NM_000495.4(COL4A5):c.1744G>A (p.Gly582Arg) http://identifiers.org/clinvar/38869 ^@ NM_000282.3(PCCA):c.862A>G (p.Arg288Gly) http://identifiers.org/clinvar/38931 ^@ NM_001363.4(DKC1):c.1049T>C (p.Met350Thr) http://identifiers.org/clinvar/38982 ^@ NM_004614.4(TK2):c.268C>T (p.Arg90Cys) http://identifiers.org/clinvar/39033 ^@ NM_024312.4(GNPTAB):c.1385dupA (p.Asp462Glufs) http://identifiers.org/clinvar/39083 ^@ NM_024312.4(GNPTAB):c.571+3A>C http://identifiers.org/clinvar/39140 ^@ NM_198578.3(LRRK2):c.1674G= (p.Gly558=) http://identifiers.org/clinvar/39190 ^@ NM_198578.3(LRRK2):c.4448G>A (p.Arg1483Gln) http://identifiers.org/clinvar/40737 ^@ NM_005633.3(SOS1):c.3802G>A (p.Gly1268Ser) http://identifiers.org/clinvar/40830 ^@ NM_030662.3(MAP2K2):c.884C>T (p.Ser295Leu) http://identifiers.org/clinvar/51440 ^@ NM_000059.3(BRCA2):c.3269delT (p.Met1090Serfs) http://identifiers.org/clinvar/51491 ^@ NM_000059.3(BRCA2):c.3593delA (p.Asn1198Metfs) http://identifiers.org/clinvar/51542 ^@ NM_000059.3(BRCA2):c.3856A>G (p.Lys1286Glu) http://identifiers.org/clinvar/51594 ^@ NM_000059.3(BRCA2):c.4095delT (p.Lys1367Asnfs) http://identifiers.org/clinvar/51646 ^@ NM_000059.3(BRCA2):c.4423delA (p.Met1475Trpfs) http://identifiers.org/clinvar/51697 ^@ NM_000059.3(BRCA2):c.4695_4698dupGACC (p.Leu1567Aspfs) http://identifiers.org/clinvar/51852 ^@ NM_000059.3(BRCA2):c.5390C>G (p.Ala1797Gly) http://identifiers.org/clinvar/51904 ^@ NM_000059.3(BRCA2):c.5665A>T (p.Ile1889Phe) http://identifiers.org/clinvar/51956 ^@ NM_000059.3(BRCA2):c.5866G>C (p.Asp1956His) http://identifiers.org/clinvar/52008 ^@ NM_000059.3(BRCA2):c.6085G>T (p.Glu2029Ter) http://identifiers.org/clinvar/52059 ^@ NM_000059.3(BRCA2):c.632-18_632-17delTA http://identifiers.org/clinvar/52113 ^@ NM_000059.3(BRCA2):c.6490C>T (p.Gln2164Ter) http://identifiers.org/clinvar/52164 ^@ NM_000059.3(BRCA2):c.67+82C>G http://identifiers.org/clinvar/52214 ^@ NM_000059.3(BRCA2):c.6848C>A (p.Pro2283His) http://identifiers.org/clinvar/52265 ^@ NM_000059.3(BRCA2):c.7088A>G (p.Tyr2363Cys) http://identifiers.org/clinvar/52316 ^@ NM_000059.3(BRCA2):c.7394C>T (p.Ala2465Val) http://identifiers.org/clinvar/52366 ^@ NM_000059.3(BRCA2):c.7618-114_7618-112delAGT http://identifiers.org/clinvar/52417 ^@ NM_000059.3(BRCA2):c.7806-1G>T http://identifiers.org/clinvar/52467 ^@ NM_000059.3(BRCA2):c.79A>G (p.Ile27Val) http://identifiers.org/clinvar/52517 ^@ NM_000059.3(BRCA2):c.8171G>T (p.Gly2724Val) http://identifiers.org/clinvar/52568 ^@ NM_000059.3(BRCA2):c.8375T>C (p.Leu2792Pro) http://identifiers.org/clinvar/52618 ^@ NM_000059.3(BRCA2):c.8546delA (p.Lys2849Argfs) http://identifiers.org/clinvar/52670 ^@ NM_000059.3(BRCA2):c.8754+5G>T http://identifiers.org/clinvar/52720 ^@ NM_000059.3(BRCA2):c.8980_8983delTCAG (p.Ser2994Ilefs) http://identifiers.org/clinvar/52771 ^@ NM_000059.3(BRCA2):c.918dupT (p.Ser307Terfs) http://identifiers.org/clinvar/52822 ^@ NM_000059.3(BRCA2):c.9367A>G (p.Ser3123Gly) http://identifiers.org/clinvar/52873 ^@ NM_000059.3(BRCA2):c.9610A>G (p.Thr3204Ala) http://identifiers.org/clinvar/53023 ^@ NM_000218.2(KCNQ1):c.1876_1893del18 (p.Gly626_Pro631del) http://identifiers.org/clinvar/53073 ^@ NM_000218.2(KCNQ1):c.575G>C (p.Arg192Pro) http://identifiers.org/clinvar/53124 ^@ NM_000218.2(KCNQ1):c.914G>A (p.Trp305Ter) http://identifiers.org/clinvar/53176 ^@ NM_000492.3(CFTR):c.1059A>C (p.Gln353His) http://identifiers.org/clinvar/53227 ^@ NM_000492.3(CFTR):c.131A>G (p.Asp44Gly) http://identifiers.org/clinvar/54085 ^@ NM_000492.3(CFTR):c.920G>A (p.Ser307Asn) http://identifiers.org/clinvar/54135 ^@ NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter) http://identifiers.org/clinvar/54185 ^@ NM_007294.3(BRCA1):c.1279G>T (p.Glu427Ter) http://identifiers.org/clinvar/54235 ^@ NM_007294.3(BRCA1):c.1390_1391insG (p.Thr464Serfs) http://identifiers.org/clinvar/54286 ^@ NM_007294.3(BRCA1):c.1529C>G (p.Ser510Ter) http://identifiers.org/clinvar/54336 ^@ NM_007294.3(BRCA1):c.1729_1730delGA (p.Glu577Ilefs) http://identifiers.org/clinvar/54387 ^@ NM_007294.3(BRCA1):c.1897C>T (p.Pro633Ser) http://identifiers.org/clinvar/54437 ^@ NM_007294.3(BRCA1):c.2017delG (p.Glu673Asnfs) http://identifiers.org/clinvar/54487 ^@ NM_007294.3(BRCA1):c.2183G>A (p.Arg728Lys) http://identifiers.org/clinvar/54537 ^@ NM_007294.3(BRCA1):c.232delA (p.Arg78Aspfs) http://identifiers.org/clinvar/54587 ^@ NM_007294.3(BRCA1):c.2507_2508delAA (p.Glu836Glyfs) http://identifiers.org/clinvar/54637 ^@ NM_007294.3(BRCA1):c.2671delT (p.Ser891Profs) http://identifiers.org/clinvar/54687 ^@ NM_007294.3(BRCA1):c.2812_2813delCCinsG (p.Pro938Glufs) http://identifiers.org/clinvar/54737 ^@ NM_007294.3(BRCA1):c.2980delT (p.Cys994Valfs) http://identifiers.org/clinvar/54787 ^@ NM_007294.3(BRCA1):c.3169A>G (p.Ser1057Gly) http://identifiers.org/clinvar/54837 ^@ NM_007294.3(BRCA1):c.3323_3326delTAAA (p.Ile1108Lysfs) http://identifiers.org/clinvar/54887 ^@ NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser) http://identifiers.org/clinvar/54937 ^@ NM_007294.3(BRCA1):c.3613G>C (p.Gly1205Arg) http://identifiers.org/clinvar/54989 ^@ NM_007294.3(BRCA1):c.3756_3757delGT (p.Ser1253Terfs) http://identifiers.org/clinvar/55040 ^@ NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) http://identifiers.org/clinvar/55091 ^@ NM_007294.3(BRCA1):c.4057_4061delGAAAA (p.Glu1353Terfs) http://identifiers.org/clinvar/55142 ^@ NM_007294.3(BRCA1):c.4210delC (p.Leu1404Terfs) http://identifiers.org/clinvar/55193 ^@ NM_007294.3(BRCA1):c.4402A>C (p.Asn1468His) http://identifiers.org/clinvar/55243 ^@ NM_007294.3(BRCA1):c.4625_4626delCT (p.Ser1542Trpfs) http://identifiers.org/clinvar/55294 ^@ NM_007294.3(BRCA1):c.4813T>C (p.Leu1605=) http://identifiers.org/clinvar/55344 ^@ NM_007294.3(BRCA1):c.4986+6T>G http://identifiers.org/clinvar/56412 ^@ NM_004328.4(BCS1L):c.320+1G>T http://identifiers.org/clinvar/56771 ^@ NM_153704.5(TMEM67):c.224-2delA http://identifiers.org/clinvar/56904 ^@ NM_005664.3(MKRN3):c.482dupC (p.Ala162Glyfs) http://identifiers.org/clinvar/57031 ^@ GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3 http://identifiers.org/clinvar/57086 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 http://identifiers.org/clinvar/102492 ^@ NM_000277.1(PAH):c.1046C>T (p.Ser349Leu) http://identifiers.org/clinvar/102549 ^@ NM_000277.1(PAH):c.1184C>G (p.Ala395Gly) http://identifiers.org/clinvar/103018 ^@ NM_001033053.2(NLRP1):c.271+181G>A http://identifiers.org/clinvar/103068 ^@ NM_001174081.2(NLRP2):c.325+129G>A http://identifiers.org/clinvar/103118 ^@ NM_022162.2(NOD2):c.2004G>A (p.Pro668=) http://identifiers.org/clinvar/103168 ^@ NM_032206.4(NLRC5):c.2871-27A>C http://identifiers.org/clinvar/103218 ^@ NM_134444.4(NLRP4):c.1856+50C>T http://identifiers.org/clinvar/103268 ^@ NM_145007.3(NLRP11):c.150A>G (p.Glu50=) http://identifiers.org/clinvar/103318 ^@ NM_176810.2(NLRP13):c.457+143T>G http://identifiers.org/clinvar/103368 ^@ NM_178844.3(NLRC3):c.2184-248T>G http://identifiers.org/clinvar/111242 ^@ NM_005534.3(IFNGR2):c.413-53_413-48delTCTATA http://identifiers.org/clinvar/120177 ^@ NM_004589.3(SCO1):c.394G>A (p.Gly132Ser) http://identifiers.org/clinvar/120254 ^@ NM_144670.5(A2ML1):c.3287C>T (p.Ser1096Phe) http://identifiers.org/clinvar/120304 ^@ NM_001282227.1(ADA2):c.13G>A (p.Gly5Arg) http://identifiers.org/clinvar/125535 ^@ NM_007294.3(BRCA1):c.2077_2078insTA (p.Asp693Valfs) http://identifiers.org/clinvar/125616 ^@ NM_007294.3(BRCA1):c.213-3C>G http://identifiers.org/clinvar/125685 ^@ NM_007294.3(BRCA1):c.4185+10G>C http://identifiers.org/clinvar/125748 ^@ NM_007294.3(BRCA1):c.4987-69G>A http://identifiers.org/clinvar/125826 ^@ NM_007294.3(BRCA1):c.5332+31G>A http://identifiers.org/clinvar/125887 ^@ NM_007294.3(BRCA1):c.548-3delT http://identifiers.org/clinvar/125951 ^@ NM_000059.3(BRCA2):c.1648dupG (p.Glu550Glyfs) http://identifiers.org/clinvar/126087 ^@ NM_000059.3(BRCA2):c.5993A>G (p.Gln1998Arg) http://identifiers.org/clinvar/126149 ^@ U43746.1:n.7830-15T>G http://identifiers.org/clinvar/126209 ^@ NM_000059.3(BRCA2):c.9330_9334delTGAGGins3 http://identifiers.org/clinvar/126267 ^@ NM_025114.3(CEP290):c.7035-38C>G http://identifiers.org/clinvar/126318 ^@ NM_020732.3(ARID1B):c.1927-3T>A http://identifiers.org/clinvar/126368 ^@ NM_003073.4(SMARCB1):c.897G>A (p.Ser299=) http://identifiers.org/clinvar/126425 ^@ NC_000004.12:g.92060162_92335756del275595 http://identifiers.org/clinvar/127087 ^@ NM_001739.1(CA5A):c.697T>C (p.Ser233Pro) http://identifiers.org/clinvar/127155 ^@ NM_025132.3(WDR19):c.1477G>C (p.Asp493His) http://identifiers.org/clinvar/127254 ^@ NM_001127255.1(NLRP7):c.-39-4C>G http://identifiers.org/clinvar/127305 ^@ NM_000038.5(APC):c.531+5G>A http://identifiers.org/clinvar/127355 ^@ NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) http://identifiers.org/clinvar/127405 ^@ NM_000051.3(ATM):c.5290delC (p.Leu1764Tyrfs) http://identifiers.org/clinvar/127455 ^@ NM_000051.3(ATM):c.8113G>T (p.Val2705Leu) http://identifiers.org/clinvar/127506 ^@ NM_000057.3(BLM):c.3934G>A (p.Ala1312Thr) http://identifiers.org/clinvar/127556 ^@ NM_000179.2(MSH6):c.1176T>A (p.Asp392Glu) http://identifiers.org/clinvar/127606 ^@ NM_000179.2(MSH6):c.821G>A (p.Ser274Asn) http://identifiers.org/clinvar/127658 ^@ NM_000314.4:c.-(903_882)dupGGGACTCTTTATGCGCTGCGGC http://identifiers.org/clinvar/127716 ^@ NM_000465.3(BARD1):c.1568T>C (p.Val523Ala) http://identifiers.org/clinvar/127766 ^@ NM_000535.6(PMS2):c.1723A>G (p.Asn575Asp) http://identifiers.org/clinvar/127817 ^@ NM_000546.5(TP53):c.580C>T (p.Leu194Phe) http://identifiers.org/clinvar/159951 ^@ NM_006306.3(SMC1A):c.2456T>G (p.Ile819Ser) http://identifiers.org/clinvar/159900 ^@ NM_006517.4(SLC16A2):c.916C>T (p.Gln306Ter) http://identifiers.org/clinvar/161572 ^@ NM_001206572.1(SORCS1):c.3380C>T (p.Pro1127Leu) http://identifiers.org/clinvar/161772 ^@ NM_025113.3(RUBCNL):c.1141C>T (p.Arg381Ter) http://identifiers.org/clinvar/161622 ^@ NM_004448.3(ERBB2):c.2706G>C (p.Gln902His) http://identifiers.org/clinvar/161722 ^@ NM_018714.2(COG1):c.1348C>T (p.Gln450Ter) http://identifiers.org/clinvar/161672 ^@ NM_014258.3(SYCP2):c.2365-8T>C http://identifiers.org/clinvar/162171 ^@ NM_001099667.1(ARMS2):c.297+881C>T http://identifiers.org/clinvar/162383 ^@ NM_001040456.2(RHBDD2):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/162464 ^@ NM_002834.4(PTPN11):c.1508G>C (p.Gly503Ala) http://identifiers.org/clinvar/162517 ^@ NM_005360.4(MAF):c.185C>G (p.Thr62Arg) http://identifiers.org/clinvar/162599 ^@ NM_013382.5(POMT2):c.1484+1G>T http://identifiers.org/clinvar/177993 ^@ NM_206933.2(USH2A):c.12612G= (p.Thr4204=) http://identifiers.org/clinvar/179551 ^@ NM_001103.3(ACTN2):c.1975-6C>G http://identifiers.org/clinvar/179601 ^@ NM_133378.4(TTN):c.89227A>G (p.Met29743Val) http://identifiers.org/clinvar/178193 ^@ NM_001256850.1(TTN):c.65133A>G (p.Arg21711=) http://identifiers.org/clinvar/179851 ^@ NM_206933.2(USH2A):c.12275G>A (p.Arg4092Lys) http://identifiers.org/clinvar/178243 ^@ NM_133378.4(TTN):c.17495C>T (p.Ala5832Val) http://identifiers.org/clinvar/179801 ^@ NM_133378.4(TTN):c.15550A>T (p.Ser5184Cys) http://identifiers.org/clinvar/163029 ^@ NM_001927.3(DES):c.1374C>T (p.Val458=) http://identifiers.org/clinvar/163152 ^@ NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) http://identifiers.org/clinvar/178593 ^@ NM_006005.3(WFS1):c.1632C>T (p.Ser544=) http://identifiers.org/clinvar/163102 ^@ NM_001277115.1(DNAH11):c.3630G>A (p.Gln1210=) http://identifiers.org/clinvar/163343 ^@ NM_005228.4(EGFR):c.2235_2249delGGAATTAAGAGAAGC (p.Glu746_Ala750del) http://identifiers.org/clinvar/179151 ^@ NM_032119.3(ADGRV1):c.18311-9dupT http://identifiers.org/clinvar/198438 ^@ NM_000843.3(GRM6):c.1462C>T (p.Gln488Ter) http://identifiers.org/clinvar/198490 ^@ NM_003165.3(STXBP1):c.548T>C (p.Leu183Pro) http://identifiers.org/clinvar/198543 ^@ NM_006516.2(SLC2A1):c.972+7delC http://identifiers.org/clinvar/198595 ^@ NM_030662.3(MAP2K2):c.763C>T (p.Leu255=) http://identifiers.org/clinvar/198646 ^@ NM_001271208.1(NEB):c.11004G>A (p.Thr3668=) http://identifiers.org/clinvar/198697 ^@ NM_000208.3(INSR):c.1650G>A (p.Ala550=) http://identifiers.org/clinvar/198752 ^@ NM_000828.4(GRIA3):c.1181G>A (p.Arg394Gln) http://identifiers.org/clinvar/198803 ^@ NM_004385.4(VCAN):c.4323G>A (p.Gln1441=) http://identifiers.org/clinvar/198857 ^@ NM_014425.4(INVS):c.913G>A (p.Val305Ile) http://identifiers.org/clinvar/198910 ^@ NM_024698.5(SLC25A22):c.725C>T (p.Ala242Val) http://identifiers.org/clinvar/198963 ^@ NM_005529.6(HSPG2):c.11717G>A (p.Arg3906Gln) http://identifiers.org/clinvar/199015 ^@ NM_001008216.1(GALE):c.755T>C (p.Ile252Thr) http://identifiers.org/clinvar/199065 ^@ NM_001287.5(CLCN7):c.822+17T>C http://identifiers.org/clinvar/199119 ^@ NM_006059.3(LAMC3):c.1630+5C>G http://identifiers.org/clinvar/199170 ^@ NM_023073.3(C5orf42):c.968C>T (p.Thr323Met) http://identifiers.org/clinvar/199226 ^@ NM_033071.3(SYNE1):c.17584G>A (p.Ala5862Thr) http://identifiers.org/clinvar/201376 ^@ NM_001035.2(RYR2):c.1727A>G (p.His576Arg) http://identifiers.org/clinvar/201318 ^@ NM_001035.2(RYR2):c.11965A>C (p.Asn3989His) http://identifiers.org/clinvar/199727 ^@ NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) http://identifiers.org/clinvar/199836 ^@ NM_004415.3(DSP):c.1344G>A (p.Leu448=) http://identifiers.org/clinvar/199668 ^@ NM_001613.2(ACTA2):c.247G>A (p.Asp83Asn) http://identifiers.org/clinvar/199781 ^@ NM_024422.4(DSC2):c.370C>T (p.His124Tyr) http://identifiers.org/clinvar/201935 ^@ NM_144573.3(NEXN):c.1935C>G (p.Phe645Leu) http://identifiers.org/clinvar/202047 ^@ NM_001134363.2(RBM20):c.2231A>T (p.Asn744Ile) http://identifiers.org/clinvar/201878 ^@ NM_032578.3(MYPN):c.230A>T (p.Asn77Ile) http://identifiers.org/clinvar/202165 ^@ NM_014000.2(VCL):c.736C>T (p.Arg246Cys) http://identifiers.org/clinvar/201991 ^@ NM_004572.3(PKP2):c.14G>A (p.Gly5Asp) http://identifiers.org/clinvar/202106 ^@ NM_003673.3(TCAP):c.475T>A (p.Ser159Thr) http://identifiers.org/clinvar/242597 ^@ NM_016124.4(RHD):c.602C>G (p.Thr201Arg) http://identifiers.org/clinvar/202215 ^@ NC_000005.9:g.(?_55550)_(159673_?)dup http://identifiers.org/clinvar/203059 ^@ NM_001256850.1(TTN):c.95645C>A (p.Pro31882Gln) http://identifiers.org/clinvar/202338 ^@ NM_001256850.1(TTN):c.92689C>T (p.Arg30897Cys) http://identifiers.org/clinvar/203009 ^@ NM_001256850.1(TTN):c.89933G>A (p.Arg29978Gln) http://identifiers.org/clinvar/202959 ^@ NM_001256850.1(TTN):c.84766C>T (p.Leu28256Phe) http://identifiers.org/clinvar/202909 ^@ NM_001256850.1(TTN):c.76835A>G (p.Asn25612Ser) http://identifiers.org/clinvar/202859 ^@ NM_001256850.1(TTN):c.70118A>G (p.Glu23373Gly) http://identifiers.org/clinvar/202809 ^@ NM_001256850.1(TTN):c.62434G>A (p.Gly20812Arg) http://identifiers.org/clinvar/233077 ^@ NM_000038.5(APC):c.6059_6062delGTTT (p.Cys2020Serfs) http://identifiers.org/clinvar/231537 ^@ NM_000038.5(APC):c.7128G>C (p.Gln2376His) http://identifiers.org/clinvar/230887 ^@ NM_005732.3(RAD50):c.304T>C (p.Cys102Arg) http://identifiers.org/clinvar/231137 ^@ NM_005732.3(RAD50):c.670C>T (p.Arg224Cys) http://identifiers.org/clinvar/230787 ^@ NM_005732.3(RAD50):c.2177G>T (p.Arg726Leu) http://identifiers.org/clinvar/233377 ^@ NM_005732.3(RAD50):c.2980A>T (p.Lys994Ter) http://identifiers.org/clinvar/233427 ^@ NM_005732.3(RAD50):c.3694G>A (p.Glu1232Lys) http://identifiers.org/clinvar/233527 ^@ NM_000535.6(PMS2):c.2535T>C (p.His845=) http://identifiers.org/clinvar/230037 ^@ NM_000535.6(PMS2):c.1209C>G (p.Ser403=) http://identifiers.org/clinvar/233577 ^@ NM_000535.6(PMS2):c.45C>G (p.Ile15Met) http://identifiers.org/clinvar/230687 ^@ NM_002485.4(NBN):c.1720T>G (p.Leu574Val) http://identifiers.org/clinvar/230737 ^@ NM_000051.3(ATM):c.2942G>A (p.Arg981His) http://identifiers.org/clinvar/232827 ^@ NM_000051.3(ATM):c.6456A>G (p.Val2152=) http://identifiers.org/clinvar/231637 ^@ NM_000051.3(ATM):c.6755C>A (p.Thr2252Asn) http://identifiers.org/clinvar/233477 ^@ NM_000051.3(ATM):c.8624A>C (p.Asn2875Thr) http://identifiers.org/clinvar/233677 ^@ NM_000051.3(ATM):c.8802delC (p.Met2935Trpfs) http://identifiers.org/clinvar/232777 ^@ NM_000051.3(ATM):c.8860T>C (p.Tyr2954His) http://identifiers.org/clinvar/231687 ^@ NM_000075.3(CDK4):c.408C>T (p.Ile136=) http://identifiers.org/clinvar/232627 ^@ NM_000059.3(BRCA2):c.-1A>T http://identifiers.org/clinvar/231337 ^@ NM_000059.3(BRCA2):c.721A>T (p.Lys241Ter) http://identifiers.org/clinvar/232476 ^@ NM_000059.3(BRCA2):c.1775A>G (p.Tyr592Cys) http://identifiers.org/clinvar/229987 ^@ NM_000059.3(BRCA2):c.2089A>G (p.Lys697Glu) http://identifiers.org/clinvar/232526 ^@ NM_000059.3(BRCA2):c.9104A>T (p.Tyr3035Phe) http://identifiers.org/clinvar/232927 ^@ NM_000548.4(TSC2):c.420G>A (p.Leu140=) http://identifiers.org/clinvar/232977 ^@ NM_024675.3(PALB2):c.3089C>T (p.Thr1030Ile) http://identifiers.org/clinvar/233829 ^@ NM_024675.3(PALB2):c.2787T>C (p.Tyr929=) http://identifiers.org/clinvar/233127 ^@ NM_024675.3(PALB2):c.1238C>A (p.Thr413Lys) http://identifiers.org/clinvar/231887 ^@ NM_024675.3(PALB2):c.140C>A (p.Ser47Tyr) http://identifiers.org/clinvar/231587 ^@ NM_004360.4(CDH1):c.1534G>A (p.Glu512Lys) http://identifiers.org/clinvar/231087 ^@ NM_004360.4(CDH1):c.1906G>A (p.Ala636Thr) http://identifiers.org/clinvar/232727 ^@ NM_004360.4(CDH1):c.2333C>T (p.Ala778Val) http://identifiers.org/clinvar/230937 ^@ NM_001042492.2(NF1):c.2329T>A (p.Trp777Arg) http://identifiers.org/clinvar/233227 ^@ NM_001042492.2(NF1):c.3513G>A (p.Lys1171=) http://identifiers.org/clinvar/232577 ^@ NM_001042492.2(NF1):c.6975T>C (p.Leu2325=) http://identifiers.org/clinvar/231837 ^@ NM_002878.3(RAD51D):c.835G>A (p.Asp279Asn) http://identifiers.org/clinvar/231437 ^@ NM_002878.3(RAD51D):c.144+5G>C http://identifiers.org/clinvar/233727 ^@ NM_007294.3(BRCA1):c.4162C>T (p.Gln1388Ter) http://identifiers.org/clinvar/233327 ^@ NM_007294.3(BRCA1):c.1928G>T (p.Ser643Ile) http://identifiers.org/clinvar/230587 ^@ NM_058216.2(RAD51C):c.905-2delA http://identifiers.org/clinvar/231187 ^@ NM_058216.2(RAD51C):c.912T>C (p.Ser304=) http://identifiers.org/clinvar/231237 ^@ NM_032043.2(BRIP1):c.2343A>T (p.Thr781=) http://identifiers.org/clinvar/233627 ^@ NM_000546.5(TP53):c.329G>C (p.Arg110Pro) http://identifiers.org/clinvar/231387 ^@ NM_000546.5(TP53):c.28G>C (p.Val10Leu) http://identifiers.org/clinvar/232877 ^@ NM_005359.5(SMAD4):c.1487G>A (p.Arg496His) http://identifiers.org/clinvar/231287 ^@ NM_007194.3(CHEK2):c.1160C>A (p.Thr387Asn) http://identifiers.org/clinvar/235446 ^@ NM_001130144.2(LTBP3):c.3364C>T (p.Gln1122Ter) http://identifiers.org/clinvar/235498 ^@ NC_012920.1:m.5553T>C http://identifiers.org/clinvar/235551 ^@ NM_003124.4(SPR):c.655C>T (p.Arg219Ter) http://identifiers.org/clinvar/235602 ^@ NM_015120.4(ALMS1):c.11670A>G (p.Ala3890=) http://identifiers.org/clinvar/235654 ^@ NC_012920.1:m.3796A>T http://identifiers.org/clinvar/235708 ^@ NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) http://identifiers.org/clinvar/235770 ^@ NM_001277269.1(OTOG):c.8689C>T (p.Arg2897Cys) http://identifiers.org/clinvar/235842 ^@ NM_022068.3(PIEZO2):c.6662C>T (p.Thr2221Ile) http://identifiers.org/clinvar/235923 ^@ NM_001168272.1(ITPR1):c.7615G>C (p.Gly2539Arg) http://identifiers.org/clinvar/242390 ^@ NM_016239.3(MYO15A):c.373_374delCG (p.Arg125Valfs) http://identifiers.org/clinvar/236126 ^@ NM_000350.2(ABCA4):c.5196+1013A>G http://identifiers.org/clinvar/236076 ^@ NM_000350.2(ABCA4):c.956T>G (p.Leu319Arg) http://identifiers.org/clinvar/236176 ^@ NM_004621.5(TRPC6):c.946-8T>C http://identifiers.org/clinvar/236264 ^@ NM_000059.3(BRCA2):c.682-2A>G http://identifiers.org/clinvar/236315 ^@ NC_000001.9:g.144970465_146293282dup1322818 http://identifiers.org/clinvar/236365 ^@ NC_000015.8:g.20301669_20638370del336702 http://identifiers.org/clinvar/236516 ^@ NM_000350.2(ABCA4):c.3098delA (p.Lys1033Serfs) http://identifiers.org/clinvar/236416 ^@ NM_006269.1(RP1):c.2032C>T (p.Gln678Ter) http://identifiers.org/clinvar/236466 ^@ NM_025114.3(CEP290):c.2052+1_2052+2delGT http://identifiers.org/clinvar/241866 ^@ NM_144573.3(NEXN):c.687+4A>T http://identifiers.org/clinvar/237812 ^@ NM_000465.3(BARD1):c.1007G>A (p.Cys336Tyr) http://identifiers.org/clinvar/241966 ^@ NM_152383.4(DIS3L2):c.1894G>A (p.Val632Met) http://identifiers.org/clinvar/237762 ^@ NM_000388.3(CASR):c.2064C>T (p.Phe688=) http://identifiers.org/clinvar/241716 ^@ NM_032638.4(GATA2):c.121C>G (p.Pro41Ala) http://identifiers.org/clinvar/236566 ^@ NM_000038.5(APC):c.191G>A (p.Gly64Glu) http://identifiers.org/clinvar/236616 ^@ NM_000038.5(APC):c.5264C>T (p.Ala1755Val) http://identifiers.org/clinvar/242216 ^@ NM_198253.2(TERT):c.1336C>A (p.Arg446Ser) http://identifiers.org/clinvar/262765 ^@ NM_153717.2(EVC):c.1115C>T (p.Thr372Met) http://identifiers.org/clinvar/261815 ^@ NM_025074.6(FRAS1):c.8439C>T (p.Asp2813=) http://identifiers.org/clinvar/262465 ^@ NM_139281.2(WDR36):c.2181A>T (p.Val727=) http://identifiers.org/clinvar/262065 ^@ NM_032446.2(MEGF10):c.1785T>C (p.Pro595=) http://identifiers.org/clinvar/261665 ^@ NM_023073.3(C5orf42):c.*18G>T http://identifiers.org/clinvar/259375 ^@ NM_004385.4(VCAN):c.9075G>A (p.Thr3025=) http://identifiers.org/clinvar/256076 ^@ NM_000426.3(LAMA2):c.5727-24T>A http://identifiers.org/clinvar/262165 ^@ NM_033071.3(SYNE1):c.156T>C (p.Asp52=) http://identifiers.org/clinvar/261115 ^@ NM_019105.6(TNXB):c.11644+10C>G http://identifiers.org/clinvar/255826 ^@ NM_000322.4(PRPH2):c.801C>T (p.Val267=) http://identifiers.org/clinvar/262415 ^@ NM_138694.3(PKHD1):c.7873T>C (p.Leu2625=) http://identifiers.org/clinvar/259325 ^@ NM_004370.5(COL12A1):c.2275C>T (p.Pro759Ser) http://identifiers.org/clinvar/261965 ^@ NM_031443.3(CCM2):c.157G>A (p.Val53Ile) http://identifiers.org/clinvar/256176 ^@ NM_000445.4(PLEC):c.3922-18C>T http://identifiers.org/clinvar/259275 ^@ NM_004315.5(ASAH1):c.127-3C>T http://identifiers.org/clinvar/259175 ^@ NM_003816.2(ADAM9):c.1130+15_1130+18dupTCTT http://identifiers.org/clinvar/262665 ^@ NM_152564.4(VPS13B):c.8622-47C>T http://identifiers.org/clinvar/259976 ^@ NM_006412.3(AGPAT2):c.345C>T (p.Cys115=) http://identifiers.org/clinvar/260126 ^@ NM_007126.3(VCP):c.2316-48C>T http://identifiers.org/clinvar/256326 ^@ NM_000507.3(FBP1):c.960A>G (p.Gly320=) http://identifiers.org/clinvar/261765 ^@ NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) http://identifiers.org/clinvar/256276 ^@ NM_000494.3(COL17A1):c.629C>T (p.Thr210Met) http://identifiers.org/clinvar/262115 ^@ NM_032844.4(MASTL):c.1782C>T (p.Ile594=) http://identifiers.org/clinvar/262215 ^@ NM_033100.3(CDHR1):c.477A>G (p.Ala159=) http://identifiers.org/clinvar/259025 ^@ NM_003282.3(TNNI2):c.277-17G>A http://identifiers.org/clinvar/260026 ^@ NM_006757.3(TNNT3):c.367-16A>G http://identifiers.org/clinvar/261715 ^@ NM_024426.4(WT1):c.770-20G>T http://identifiers.org/clinvar/258975 ^@ NM_003156.3(STIM1):c.1813C>G (p.Pro605Ala) http://identifiers.org/clinvar/259625 ^@ NM_005055.4(RAPSN):c.162G>A (p.Ser54=) http://identifiers.org/clinvar/259225 ^@ NM_004055.4(CAPN5):c.971+11A>G http://identifiers.org/clinvar/262815 ^@ NM_172364.4(CACNA2D4):c.237A>G (p.Leu79=) http://identifiers.org/clinvar/256676 ^@ NM_000552.4(VWF):c.390C>T (p.Ser130=) http://identifiers.org/clinvar/262265 ^@ NM_052867.2(NALCN):c.515+7G>A http://identifiers.org/clinvar/261615 ^@ NM_022489.3(INF2):c.3108T>C (p.Leu1036=) http://identifiers.org/clinvar/262515 ^@ NM_144596.3(TTC8):c.194A>G (p.Asp65Gly) http://identifiers.org/clinvar/255726 ^@ NM_000275.2(OCA2):c.1952-16A>G http://identifiers.org/clinvar/334912 ^@ NM_004509.3(SP110):c.584-9C>T http://identifiers.org/clinvar/332871 ^@ NM_133378.4(TTN):c.35612G>A (p.Arg11871His) http://identifiers.org/clinvar/335712 ^@ NM_004304.4(ALK):c.510C>T (p.Leu170=) http://identifiers.org/clinvar/332921 ^@ NM_133378.4(TTN):c.14914G>A (p.Val4972Met) http://identifiers.org/clinvar/335062 ^@ NM_000541.4(SAG):c.-331G>T http://identifiers.org/clinvar/332971 ^@ NM_133378.4(TTN):c.617C>A (p.Thr206Lys) http://identifiers.org/clinvar/335762 ^@ NM_000379.3(XDH):c.3271G>C (p.Val1091Leu) http://identifiers.org/clinvar/335112 ^@ NM_004369.3(COL6A3):c.6852C>T (p.Ile2284=) http://identifiers.org/clinvar/332671 ^@ NM_133378.4(TTN):c.*274G>A http://identifiers.org/clinvar/335812 ^@ NM_000348.3(SRD5A2):c.*90_*91delCCinsATATATATATATATATATATATATATATATATATAT http://identifiers.org/clinvar/332721 ^@ NM_133378.4(TTN):c.88125A>G (p.Gly29375=) http://identifiers.org/clinvar/335312 ^@ NM_152783.4(D2HGDH):c.454C>T (p.Arg152Cys) http://identifiers.org/clinvar/335412 ^@ NM_000183.2(HADHB):c.*241T>G http://identifiers.org/clinvar/333071 ^@ NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) http://identifiers.org/clinvar/335512 ^@ NM_000221.2(KHK):c.*540G>C http://identifiers.org/clinvar/333571 ^@ NM_020919.3(ALS2):c.*1249G>A http://identifiers.org/clinvar/337658 ^@ NM_001298.2(CNGA3):c.566+6C>T http://identifiers.org/clinvar/334812 ^@ NM_000091.4(COL4A3):c.*1681A>G http://identifiers.org/clinvar/334562 ^@ NM_181457.3(PAX3):c.47C>T (p.Pro16Leu) http://identifiers.org/clinvar/334862 ^@ NM_025243.3(SLC19A3):c.*803G>A http://identifiers.org/clinvar/334612 ^@ NM_003590.4(CUL3):c.*1506G>A http://identifiers.org/clinvar/335012 ^@ NM_005199.4(CHRNG):c.1230G>A (p.Ala410=) http://identifiers.org/clinvar/337608 ^@ NM_020184.3(CNNM4):c.*1362G>A http://identifiers.org/clinvar/335262 ^@ NM_004321.7(KIF1A):c.4005G>A (p.Ala1335=) http://identifiers.org/clinvar/335462 ^@ NM_194248.2(OTOF):c.327+5G>T http://identifiers.org/clinvar/335162 ^@ NM_004544.3(NDUFA10):c.*2997G>A http://identifiers.org/clinvar/335562 ^@ NM_144631.5(ZNF513):c.-48G>C http://identifiers.org/clinvar/335612 ^@ NM_001029883.2(C2orf71):c.*1157G>A http://identifiers.org/clinvar/335662 ^@ NM_001029883.2(C2orf71):c.1452C>T (p.Ser484=) http://identifiers.org/clinvar/343798 ^@ NM_174878.2(CLRN1):c.*1039A>T http://identifiers.org/clinvar/343848 ^@ NM_005677.3(COLQ):c.912C>T (p.Tyr304=) http://identifiers.org/clinvar/343998 ^@ NM_001041.3(SI):c.*68T>C http://identifiers.org/clinvar/350517 ^@ NM_198253.2(TERT):c.3191C>T (p.Pro1064Leu) http://identifiers.org/clinvar/357304 ^@ NM_003221.3(TFAP2B):c.*922_*925delCACA http://identifiers.org/clinvar/350567 ^@ NM_001182.4(ALDH7A1):c.*998_*1000dupAAA http://identifiers.org/clinvar/357404 ^@ NM_138694.3(PKHD1):c.11507-5C>T http://identifiers.org/clinvar/350717 ^@ NM_032446.2(MEGF10):c.*3575T>G http://identifiers.org/clinvar/350667 ^@ NM_032446.2(MEGF10):c.2810C>T (p.Ala937Val) http://identifiers.org/clinvar/354714 ^@ NM_001491.2(GCNT2):c.*130C>T http://identifiers.org/clinvar/354764 ^@ NM_020381.3(PDSS2):c.*259G>A http://identifiers.org/clinvar/350767 ^@ NM_001999.3(FBN2):c.6583C>T (p.Arg2195Cys) http://identifiers.org/clinvar/350867 ^@ NM_000358.2(TGFBI):c.141C>T (p.Asn47=) http://identifiers.org/clinvar/354864 ^@ NM_007214.4(SEC63):c.*1790_*1792delGTT http://identifiers.org/clinvar/350917 ^@ NM_001369.2(DNAH5):c.13825C>A (p.Pro4609Thr) http://identifiers.org/clinvar/351017 ^@ NM_001369.2(DNAH5):c.12396C>T (p.Thr4132=) http://identifiers.org/clinvar/350967 ^@ NM_017415.2(KLHL3):c.*1104G>A http://identifiers.org/clinvar/358243 ^@ NM_014165.3(NDUFAF4):c.*1727T>C http://identifiers.org/clinvar/351167 ^@ NM_199189.2(MATR3):c.*1239A>G http://identifiers.org/clinvar/351317 ^@ NM_001018077.1(NR3C1):c.*3466T>C http://identifiers.org/clinvar/351367 ^@ NM_001018077.1(NR3C1):c.2034C>T (p.Asp678=) http://identifiers.org/clinvar/351417 ^@ NM_054027.4(ANKH):c.*4244T>A http://identifiers.org/clinvar/351517 ^@ NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) http://identifiers.org/clinvar/358743 ^@ NM_000492.3(CFTR):c.*842delA http://identifiers.org/clinvar/351567 ^@ NM_024577.3(SH3TC2):c.*22212G>A http://identifiers.org/clinvar/355854 ^@ NM_033071.3(SYNE1):c.17299A>C (p.Thr5767Pro) http://identifiers.org/clinvar/351617 ^@ NM_024577.3(SH3TC2):c.*17662T>C http://identifiers.org/clinvar/355904 ^@ NM_033071.3(SYNE1):c.7735G>A (p.Glu2579Lys) http://identifiers.org/clinvar/359143 ^@ NM_001080413.3(NOBOX):c.1322C>G (p.Pro441Arg) http://identifiers.org/clinvar/359243 ^@ NM_014141.5(CNTNAP2):c.*3227G>T http://identifiers.org/clinvar/351967 ^@ NM_000440.2(PDE6A):c.*951C>T http://identifiers.org/clinvar/359543 ^@ NM_001101426.3(ISPD):c.*2192_*2195delTGTA http://identifiers.org/clinvar/352017 ^@ NM_000112.3(SLC26A2):c.-183G>C http://identifiers.org/clinvar/356354 ^@ NM_006929.4(SKIV2L):c.3711C>T (p.Ile1237=) http://identifiers.org/clinvar/356504 ^@ NM_182548.3(LHFPL5):c.*459_*460delCA http://identifiers.org/clinvar/357004 ^@ NM_006502.2(POLH):c.*4807delC http://identifiers.org/clinvar/357104 ^@ NM_001024630.3(RUNX2):c.*608T>C http://identifiers.org/clinvar/357204 ^@ NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTGTG http://identifiers.org/clinvar/357354 ^@ NM_003221.3(TFAP2B):c.*4215_*4216delGT http://identifiers.org/clinvar/357504 ^@ NM_018100.3(EFHC1):c.*1027_*1044dup18 http://identifiers.org/clinvar/361032 ^@ NM_014251.2(SLC25A13):c.-127G>A http://identifiers.org/clinvar/361282 ^@ NM_178857.5(RP1L1):c.4401G>T (p.Arg1467Ser) http://identifiers.org/clinvar/361540 ^@ NM_014112.4(TRPS1):c.*4159T>C http://identifiers.org/clinvar/361592 ^@ NM_014112.4(TRPS1):c.*684T>C http://identifiers.org/clinvar/361842 ^@ NM_004519.3(KCNQ3):c.*2166A>G http://identifiers.org/clinvar/299784 ^@ NM_032844.4(MASTL):c.-106T>C http://identifiers.org/clinvar/299884 ^@ NM_020975.4(RET):c.-158G>A http://identifiers.org/clinvar/299934 ^@ NM_020975.4(RET):c.*1506G>A http://identifiers.org/clinvar/299984 ^@ NM_002900.2(RBP3):c.1323C>T (p.Tyr441=) http://identifiers.org/clinvar/363881 ^@ NM_019098.4(CNGB3):c.595G>A (p.Glu199Lys) http://identifiers.org/clinvar/300034 ^@ NM_000124.3(ERCC6):c.4393G>A (p.Val1465Ile) http://identifiers.org/clinvar/306538 ^@ NM_016156.5(MTMR2):c.1504G>C (p.Glu502Gln) http://identifiers.org/clinvar/306588 ^@ NM_030962.3(SBF2):c.3016C>T (p.Pro1006Ser) http://identifiers.org/clinvar/306638 ^@ NM_139319.2(SLC17A8):c.*71T>C http://identifiers.org/clinvar/364281 ^@ NM_001701.3(BAAT):c.264A>G (p.Leu88=) http://identifiers.org/clinvar/306788 ^@ NM_024312.4(GNPTAB):c.*323T>C http://identifiers.org/clinvar/364331 ^@ NM_005502.3(ABCA1):c.*2611A>G http://identifiers.org/clinvar/300284 ^@ NM_018055.4(NODAL):c.*887C>T http://identifiers.org/clinvar/300484 ^@ NM_022124.5(CDH23):c.*85G>A http://identifiers.org/clinvar/364831 ^@ NM_000177.4(GSN):c.*97_*98insGGTG http://identifiers.org/clinvar/308227 ^@ NM_000719.6(CACNA1C):c.*4025C>T http://identifiers.org/clinvar/308427 ^@ NM_012062.4(DNM1L):c.*1526T>C http://identifiers.org/clinvar/308777 ^@ NM_020638.2(FGF23):c.*1772G>A http://identifiers.org/clinvar/301773 ^@ NM_002860.3(ALDH18A1):c.933+14G>A http://identifiers.org/clinvar/301823 ^@ NM_138413.3(HOGA1):c.*850G>T http://identifiers.org/clinvar/309277 ^@ NM_000617.2(SLC11A2):c.*2289G>T http://identifiers.org/clinvar/309577 ^@ NM_000424.3(KRT5):c.-69C>T http://identifiers.org/clinvar/302073 ^@ NM_001080463.1(DYNC2H1):c.8612G>A (p.Arg2871Gln) http://identifiers.org/clinvar/302173 ^@ NM_001025389.1(AMPD3):c.1516A>G (p.Asn506Asp) http://identifiers.org/clinvar/302223 ^@ NM_000019.3(ACAT1):c.*464A>G http://identifiers.org/clinvar/302273 ^@ NM_000051.3(ATM):c.*1640C>T http://identifiers.org/clinvar/302423 ^@ NM_024740.2(ALG9):c.*243G>A http://identifiers.org/clinvar/302573 ^@ NM_001558.3(IL10RA):c.*1352G>A http://identifiers.org/clinvar/306688 ^@ NM_018979.3(WNK1):c.*1146G>A http://identifiers.org/clinvar/306738 ^@ NM_018979.3(WNK1):c.*2583C>T http://identifiers.org/clinvar/302873 ^@ NM_005188.3(CBL):c.*5860T>C http://identifiers.org/clinvar/302923 ^@ NG_012235.1:g.12377C>G http://identifiers.org/clinvar/314260 ^@ NM_000428.2(LTBP2):c.*206C>T http://identifiers.org/clinvar/322095 ^@ NM_145691.3(ATPAF2):c.634G>T (p.Ala212Ser) http://identifiers.org/clinvar/322245 ^@ NM_000430.3(PAFAH1B1):c.-525G>C http://identifiers.org/clinvar/314710 ^@ NM_000369.2(TSHR):c.*728A>G http://identifiers.org/clinvar/322345 ^@ NM_080669.5(SLC46A1):c.*4316C>G http://identifiers.org/clinvar/314810 ^@ NM_018319.3(TDP1):c.-292G>T http://identifiers.org/clinvar/322545 ^@ NM_001045.5(SLC6A4):c.-173C>G http://identifiers.org/clinvar/313210 ^@ NM_020937.3(FANCM):c.3096T>C (p.Asp1032=) http://identifiers.org/clinvar/323045 ^@ NM_003673.3(TCAP):c.111-13C>A http://identifiers.org/clinvar/313610 ^@ NM_182914.2(SYNE2):c.15483+13G>A http://identifiers.org/clinvar/315649 ^@ NM_005159.4(ACTC1):c.*1893C>T http://identifiers.org/clinvar/367710 ^@ NM_002764.3(PRPS1):c.*725T>C http://identifiers.org/clinvar/315849 ^@ NM_144508.4(KNL1):c.1768G>T (p.Ala590Ser) http://identifiers.org/clinvar/367810 ^@ NM_001167.3(XIAP):c.*2401C>T http://identifiers.org/clinvar/315899 ^@ NM_000070.2(CAPN3):c.*170G>C http://identifiers.org/clinvar/316299 ^@ NM_000138.4(FBN1):c.*2578C>T http://identifiers.org/clinvar/314410 ^@ NM_017791.2(FLVCR2):c.286A>G (p.Met96Val) http://identifiers.org/clinvar/316349 ^@ NM_000138.4(FBN1):c.*867G>T http://identifiers.org/clinvar/316449 ^@ NM_031226.2(CYP19A1):c.*2039G>T http://identifiers.org/clinvar/324241 ^@ NM_018488.3(TBX4):c.17G>C (p.Gly6Ala) http://identifiers.org/clinvar/316549 ^@ NM_182758.3(WDR72):c.*1583T>C http://identifiers.org/clinvar/324443 ^@ NM_016360.3(TACO1):c.261C>T (p.Asn87=) http://identifiers.org/clinvar/314760 ^@ NM_000153.3(GALC):c.96G>T (p.Leu32=) http://identifiers.org/clinvar/314860 ^@ NM_006329.3(FBLN5):c.*653G>A http://identifiers.org/clinvar/324693 ^@ NM_004655.3(AXIN2):c.-260T>G http://identifiers.org/clinvar/324843 ^@ NM_000891.2(KCNJ2):c.*646_*648dupGTT http://identifiers.org/clinvar/325293 ^@ NM_004035.6(ACOX1):c.*5134A>G http://identifiers.org/clinvar/315699 ^@ NM_005159.4(ACTC1):c.*224G>C http://identifiers.org/clinvar/315749 ^@ NM_152594.2(SPRED1):c.*1040G>A http://identifiers.org/clinvar/316049 ^@ NM_201631.3(TGM5):c.1104C>T (p.Asn368=) http://identifiers.org/clinvar/316099 ^@ NM_025137.3(SPG11):c.2621-15T>G http://identifiers.org/clinvar/316149 ^@ NM_014080.4(DUOX2):c.3518C>T (p.Ser1173Phe) http://identifiers.org/clinvar/372166 ^@ NM_004199.2(P4HA2):c.419A>G (p.Gln140Arg) http://identifiers.org/clinvar/372233 ^@ NM_014026.4(DCPS):c.201+2T>C http://identifiers.org/clinvar/372857 ^@ NM_003238.4(TGFB2):c.644-2A>G http://identifiers.org/clinvar/373360 ^@ NM_021007.2(SCN2A):c.4121T>A (p.Met1374Lys) http://identifiers.org/clinvar/373060 ^@ NM_004826.3(ECEL1):c.4G>T (p.Glu2Ter) http://identifiers.org/clinvar/373010 ^@ NM_022356.3(P3H1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/372600 ^@ NM_003467.2(CXCR4):c.1003G>A (p.Gly335Ser) http://identifiers.org/clinvar/372340 ^@ NM_000094.3(COL7A1):c.5499C>T (p.Gly1833=) http://identifiers.org/clinvar/373410 ^@ NM_003998.3(NFKB1):c.862G>A (p.Glu288Lys) http://identifiers.org/clinvar/373160 ^@ NM_013334.3(GMPPB):c.1019A>G (p.Tyr340Cys) http://identifiers.org/clinvar/373310 ^@ NM_025074.6(FRAS1):c.7999A>G (p.Ile2667Val) http://identifiers.org/clinvar/372908 ^@ NM_006846.3(SPINK5):c.2740-1G>C http://identifiers.org/clinvar/373460 ^@ NM_000521.3(HEXB):c.838T>A (p.Leu280Ile) http://identifiers.org/clinvar/373260 ^@ NM_000093.4(COL5A1):c.2722C>T (p.Pro908Ser) http://identifiers.org/clinvar/372651 ^@ NM_001134363.2(RBM20):c.1913C>A (p.Pro638Gln) http://identifiers.org/clinvar/372804 ^@ NM_006749.4(SLC20A2):c.82G>A (p.Asp28Asn) http://identifiers.org/clinvar/373210 ^@ NM_003165.3(STXBP1):c.1652G>T (p.Arg551Leu) http://identifiers.org/clinvar/372441 ^@ NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) http://identifiers.org/clinvar/372754 ^@ NM_000088.3(COL1A1):c.1354-12G>A http://identifiers.org/clinvar/372960 ^@ NM_000243.2(MEFV):c.1873A>C (p.Lys625Gln) http://identifiers.org/clinvar/372550 ^@ NM_000267.3(NF1):c.2325+3A>G http://identifiers.org/clinvar/373110 ^@ NM_001005360.2(DNM2):c.1565G>T (p.Arg522Leu) http://identifiers.org/clinvar/372704 ^@ NM_001271043.2(NFIX):c.512T>G (p.Val171Gly) http://identifiers.org/clinvar/372287 ^@ NM_001605.2(AARS):c.1528C>T (p.Arg510Cys) http://identifiers.org/clinvar/372390 ^@ NM_000215.3(JAK3):c.2636A>G (p.His879Arg) http://identifiers.org/clinvar/372497 ^@ NM_000330.3(RS1):c.668G>A (p.Cys223Tyr) http://identifiers.org/clinvar/374494 ^@ NM_002335.3(LRP5):c.477delC (p.Ala161Leufs) http://identifiers.org/clinvar/374971 ^@ NM_006231.3(POLE):c.5558T>C (p.Ile1853Thr) http://identifiers.org/clinvar/375246 ^@ NM_001282225.1(ADA2):c.145C>T (p.Arg49Trp) http://identifiers.org/clinvar/375302 ^@ NM_001128177.1(THRB):c.1351T>G (p.Phe451Val) http://identifiers.org/clinvar/375357 ^@ NM_000520.5(HEXA):c.805G>C (p.Gly269Arg) http://identifiers.org/clinvar/375408 ^@ NM_001271208.1(NEB):c.23847+2T>C http://identifiers.org/clinvar/375468 ^@ NM_000168.5(GLI3):c.4436T>C (p.Leu1479Ser) http://identifiers.org/clinvar/375531 ^@ NM_000814.5(GABRB3):c.761C>T (p.Ser254Phe) http://identifiers.org/clinvar/375591 ^@ NM_024928.4(STN1):c.404G>C (p.Arg135Thr) http://identifiers.org/clinvar/375649 ^@ NM_004181.4(UCHL1):c.533G>A (p.Arg178Gln) http://identifiers.org/clinvar/375738 ^@ NM_031267.3(CDK13):c.2140G>C (p.Gly714Arg) http://identifiers.org/clinvar/375843 ^@ NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) http://identifiers.org/clinvar/375793 ^@ NM_000527.4(LDLR):c.680_692delACGAGGAAAACTG (p.Asp227Alafs) http://identifiers.org/clinvar/375896 ^@ NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) http://identifiers.org/clinvar/378155 ^@ NM_000251.2(MSH2):c.366+18T>C http://identifiers.org/clinvar/389939 ^@ NM_000090.3(COL3A1):c.2608-2A>C http://identifiers.org/clinvar/393028 ^@ NM_015120.4(ALMS1):c.8536A>G (p.Ile2846Val) http://identifiers.org/clinvar/387350 ^@ NM_015120.4(ALMS1):c.11875+18G>A http://identifiers.org/clinvar/382368 ^@ NM_004321.7(KIF1A):c.4209C>T (p.Thr1403=) http://identifiers.org/clinvar/385461 ^@ NM_183357.2(ADCY5):c.191A>C (p.Gln64Pro) http://identifiers.org/clinvar/391478 ^@ NM_000249.3(MLH1):c.2184T>A (p.Ile728=) http://identifiers.org/clinvar/381716 ^@ NM_000096.3(CP):c.1948G>A (p.Gly650Arg) http://identifiers.org/clinvar/381416 ^@ NM_000158.3(GBE1):c.-28G>T http://identifiers.org/clinvar/389989 ^@ NM_000249.3(MLH1):c.1872C>T (p.Asp624=) http://identifiers.org/clinvar/388300 ^@ NM_024582.4(FAT4):c.1128G>A (p.Val376=) http://identifiers.org/clinvar/392528 ^@ NM_015120.4(ALMS1):c.4451T>C (p.Ile1484Thr) http://identifiers.org/clinvar/387650 ^@ NM_005506.3(SCARB2):c.-48G>A http://identifiers.org/clinvar/391928 ^@ NM_005219.4(DIAPH1):c.2794C>T (p.Arg932Ter) http://identifiers.org/clinvar/387750 ^@ NM_024996.5(GFM1):c.1626A>G (p.Gln542=) http://identifiers.org/clinvar/389839 ^@ NM_033071.3(SYNE1):c.8784G>A (p.Thr2928=) http://identifiers.org/clinvar/392978 ^@ NM_005654.5(NR2F1):c.226G>A (p.Gly76Ser) http://identifiers.org/clinvar/392728 ^@ NM_006772.2(SYNGAP1):c.2362T>A (p.Ser788Thr) http://identifiers.org/clinvar/388250 ^@ NM_174889.4(NDUFAF2):c.218-20A>C http://identifiers.org/clinvar/383359 ^@ NM_033071.3(SYNE1):c.25102+18A>C http://identifiers.org/clinvar/386900 ^@ NM_020732.3(ARID1B):c.3748A>C (p.Lys1250Gln) http://identifiers.org/clinvar/384911 ^@ NM_002667.4(PLN):c.-14G>A http://identifiers.org/clinvar/381867 ^@ NM_152778.2(MFSD8):c.-18C>T http://identifiers.org/clinvar/389689 ^@ NM_024592.4(SRD5A3):c.672C>T (p.Leu224=) http://identifiers.org/clinvar/390389 ^@ NM_000535.6(PMS2):c.2276-17A>G http://identifiers.org/clinvar/381116 ^@ NM_000038.5(APC):c.1761C>T (p.Ser587=) http://identifiers.org/clinvar/383309 ^@ NM_001458.4(FLNC):c.4456+13C>T http://identifiers.org/clinvar/377953 ^@ NM_000238.3(KCNH2):c.1158T>C (p.Pro386=) http://identifiers.org/clinvar/377903 ^@ NM_000806.5(GABRA1):c.846A>G (p.Arg282=) http://identifiers.org/clinvar/384811 ^@ NM_007255.2(B4GALT7):c.-26C>T http://identifiers.org/clinvar/385561 ^@ NM_001098511.2(KIF2A):c.*5G>T http://identifiers.org/clinvar/385861 ^@ NM_000050.4(ASS1):c.566+20C>T http://identifiers.org/clinvar/381566 ^@ NM_017780.3(CHD7):c.4787A>G (p.Asp1596Gly) http://identifiers.org/clinvar/387050 ^@ NM_000093.4(COL5A1):c.4231-16C>T http://identifiers.org/clinvar/392828 ^@ NM_017617.4(NOTCH1):c.5638+19A>G http://identifiers.org/clinvar/385211 ^@ NM_004408.3(DNM1):c.-33G>A http://identifiers.org/clinvar/383409 ^@ NM_001130438.2(SPTAN1):c.-20T>C http://identifiers.org/clinvar/385361 ^@ NM_003165.3(STXBP1):c.429+12T>C http://identifiers.org/clinvar/389589 ^@ NM_006567.4(FARS2):c.1059G>A (p.Lys353=) http://identifiers.org/clinvar/383158 ^@ NM_000093.4(COL5A1):c.1197C>T (p.Asp399=) http://identifiers.org/clinvar/381917 ^@ NM_004415.3(DSP):c.2298-16C>T http://identifiers.org/clinvar/392228 ^@ NM_020822.2(KCNT1):c.1769+20A>G http://identifiers.org/clinvar/133053 ^@ NM_000540.2(RYR1):c.13934G>A (p.Arg4645Gln) http://identifiers.org/clinvar/133103 ^@ NM_000540.2(RYR1):c.1598G>A (p.Arg533His) http://identifiers.org/clinvar/133789 ^@ NM_032415.5(CARD11):c.1741G>A (p.Ala581Thr) http://identifiers.org/clinvar/133839 ^@ NM_001039933.2(CD79B):c.182C>T (p.Thr61Met) http://identifiers.org/clinvar/133889 ^@ NM_007194.3(CHEK2):c.731A>G (p.Lys244Arg) http://identifiers.org/clinvar/133939 ^@ NM_004380.2(CREBBP):c.5770G>A (p.Val1924Met) http://identifiers.org/clinvar/133989 ^@ NM_001077706.2(ECT2L):c.1532C>T (p.Ala511Val) http://identifiers.org/clinvar/134039 ^@ NM_001429.3(EP300):c.2773C>A (p.Pro925Thr) http://identifiers.org/clinvar/134091 ^@ NM_001005862.2(ERBB2):c.644C>T (p.Thr215Met) http://identifiers.org/clinvar/134141 ^@ NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) http://identifiers.org/clinvar/134292 ^@ NM_000135.2(FANCA):c.764_766delGAA (p.Arg255del) http://identifiers.org/clinvar/134342 ^@ NM_021922.2(FANCE):c.1141C>T (p.Arg381Cys) http://identifiers.org/clinvar/134393 ^@ NM_000141.4(FGFR2):c.942C>T (p.Ala314=) http://identifiers.org/clinvar/134443 ^@ NM_004119.2(FLT3):c.190G>A (p.Gly64Arg) http://identifiers.org/clinvar/134493 ^@ NM_001077490.2(GNAS):c.1611C>G (p.Ala537=) http://identifiers.org/clinvar/134543 ^@ NM_002227.3(JAK1):c.2234C>T (p.Thr745Met) http://identifiers.org/clinvar/134593 ^@ NM_004187.3(KDM5C):c.4498G>A (p.Glu1500Lys) http://identifiers.org/clinvar/134644 ^@ NM_001127500.2(MET):c.3031A>G (p.Thr1011Ala) http://identifiers.org/clinvar/134695 ^@ NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) http://identifiers.org/clinvar/134746 ^@ NM_170606.2(KMT2C):c.3487G>C (p.Val1163Leu) http://identifiers.org/clinvar/134796 ^@ NM_170606.2(KMT2C):c.10024G>T (p.Ala3342Ser) http://identifiers.org/clinvar/134848 ^@ NM_000179.2(MSH6):c.476C>T (p.Ala159Val) http://identifiers.org/clinvar/134900 ^@ NM_006164.4(NFE2L2):c.128G>A (p.Arg43Gln) http://identifiers.org/clinvar/134950 ^@ NM_017617.4(NOTCH1):c.6536G>A (p.Arg2179Gln) http://identifiers.org/clinvar/135000 ^@ NM_016734.2(PAX5):c.451G>A (p.Val151Ile) http://identifiers.org/clinvar/135050 ^@ NM_000534.4(PMS1):c.2377T>G (p.Tyr793Asp) http://identifiers.org/clinvar/135101 ^@ NM_000264.3(PTCH1):c.3617G>A (p.Arg1206His) http://identifiers.org/clinvar/135152 ^@ NM_004260.3(RECQL4):c.3337G>C (p.Gly1113Arg) http://identifiers.org/clinvar/135233 ^@ NM_014159.6(SETD2):c.3131G>A (p.Ser1044Asn) http://identifiers.org/clinvar/135284 ^@ NM_016169.3(SUFU):c.1084C>T (p.Arg362Cys) http://identifiers.org/clinvar/135334 ^@ NM_006290.3(TNFAIP3):c.380T>G (p.Phe127Cys) http://identifiers.org/clinvar/135384 ^@ NM_000548.4(TSC2):c.3963G>C (p.Glu1321Asp) http://identifiers.org/clinvar/135435 ^@ NM_000553.4(WRN):c.3731C>T (p.Thr1244Met) http://identifiers.org/clinvar/135485 ^@ NM_004628.4(XPC):c.1496C>T (p.Ala499Val) http://identifiers.org/clinvar/135535 ^@ NM_000123.3(ERCC5):c.-1C>T http://identifiers.org/clinvar/135599 ^@ NM_002136.3(HNRNPA1):c.839A>G (p.Asn280Ser) http://identifiers.org/clinvar/135661 ^@ NM_012470.3(TNPO3):c.2453G>C (p.Arg818Pro) http://identifiers.org/clinvar/135721 ^@ NM_000038.5(APC):c.8042C>T (p.Pro2681Leu) http://identifiers.org/clinvar/135772 ^@ NM_000051.3(ATM):c.6572+4T>C http://identifiers.org/clinvar/135830 ^@ NM_000179.2(MSH6):c.1599G>C (p.Glu533Asp) http://identifiers.org/clinvar/135880 ^@ NM_000264.3(PTCH1):c.252G>A (p.Gln84=) http://identifiers.org/clinvar/135930 ^@ NM_000455.4(STK11):c.96C>G (p.Thr32=) http://identifiers.org/clinvar/135981 ^@ NM_001128425.1(MUTYH):c.1186+9A>T http://identifiers.org/clinvar/136032 ^@ NM_002354.2(EPCAM):c.859-6A>C http://identifiers.org/clinvar/136083 ^@ NM_007294.3(BRCA1):c.2943A>T (p.Pro981=) http://identifiers.org/clinvar/136133 ^@ NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) http://identifiers.org/clinvar/185385 ^@ NM_007294.3(BRCA1):c.3993G>A (p.Gln1331=) http://identifiers.org/clinvar/186185 ^@ NM_007294.3(BRCA1):c.2238C>A (p.Asp746Glu) http://identifiers.org/clinvar/185485 ^@ NM_007294.3(BRCA1):c.123C>T (p.His41=) http://identifiers.org/clinvar/185535 ^@ NM_058216.2(RAD51C):c.115C>G (p.Leu39Val) http://identifiers.org/clinvar/186085 ^@ NM_058216.2(RAD51C):c.992G>T (p.Ser331Ile) http://identifiers.org/clinvar/185785 ^@ NM_058216.2(RAD51C):c.1061C>T (p.Ala354Val) http://identifiers.org/clinvar/187426 ^@ NM_032043.2(BRIP1):c.2328C>T (p.Ala776=) http://identifiers.org/clinvar/187476 ^@ NM_032043.2(BRIP1):c.2010dupT (p.Glu671Terfs) http://identifiers.org/clinvar/185285 ^@ NM_000546.5(TP53):c.906delG (p.Ser303Alafs) http://identifiers.org/clinvar/185935 ^@ NM_000455.4(STK11):c.1101G>A (p.Thr367=) http://identifiers.org/clinvar/185035 ^@ NM_000455.4(STK11):c.1213A>T (p.Arg405Trp) http://identifiers.org/clinvar/187576 ^@ NM_007194.3(CHEK2):c.514A>G (p.Thr172Ala) http://identifiers.org/clinvar/187780 ^@ NM_030813.5(CLPB):c.1305_1307invGGG (p.Glu435_Gly436delinsAsp) http://identifiers.org/clinvar/187856 ^@ NM_133443.3(GPT2):c.459C>G (p.Ser153Arg) http://identifiers.org/clinvar/187909 ^@ NM_004409.4(DMPK):c.*224_*226[107] http://identifiers.org/clinvar/187959 ^@ NM_004409.4(DMPK):c.*224_*226[333] http://identifiers.org/clinvar/188009 ^@ NM_004409.4(DMPK):c.*224_*226[59] http://identifiers.org/clinvar/188059 ^@ NM_001127500.2(MET):c.3563G>A (p.Arg1188Gln) http://identifiers.org/clinvar/188266 ^@ NM_001127500.2(MET):c.4198C>T (p.Arg1400Ter) http://identifiers.org/clinvar/188161 ^@ NM_000535.6(PMS2):c.1654C>A (p.His552Asn) http://identifiers.org/clinvar/188371 ^@ NM_020975.4(RET):c.2731-?_*(1_?)del http://identifiers.org/clinvar/188110 ^@ NM_000051.3(ATM):c.928A>G (p.Ser310Gly) http://identifiers.org/clinvar/188318 ^@ NM_000059.3(BRCA2):c.5969A>G (p.Asp1990Gly) http://identifiers.org/clinvar/188212 ^@ NM_000059.3(BRCA2):c.7597T>G (p.Ser2533Ala) http://identifiers.org/clinvar/188679 ^@ NM_001001430.2(TNNT2):c.53-22C>A http://identifiers.org/clinvar/188729 ^@ NM_000466.2(PEX1):c.2926+1G>A http://identifiers.org/clinvar/189944 ^@ NM_001165963.1(SCN1A):c.5461C>T (p.Gln1821Ter) http://identifiers.org/clinvar/189994 ^@ NM_001165963.1(SCN1A):c.4554delA (p.Lys1518Asnfs) http://identifiers.org/clinvar/189844 ^@ NM_001165963.1(SCN1A):c.2593C>T (p.Arg865Ter) http://identifiers.org/clinvar/189894 ^@ NM_001165963.1(SCN1A):c.121A>T (p.Lys41Ter) http://identifiers.org/clinvar/190110 ^@ NM_144498.2(OSBPL2):c.156_157delTC (p.Gln53Argfs) http://identifiers.org/clinvar/190179 ^@ NM_001110556.1(FLNA):c.6635_6638delTCAG (p.Val2212Alafs) http://identifiers.org/clinvar/190230 ^@ NM_002337.3(LRPAP1):c.199delC (p.Gln67Serfs) http://identifiers.org/clinvar/190311 ^@ DNM1, 130984491A-T http://identifiers.org/clinvar/190363 ^@ NM_002055.4(GFAP):c.1193C>T (p.Ser398Phe) http://identifiers.org/clinvar/190452 ^@ NM_001039523.2(CHRNA1):c.762C>T (p.Arg254=) http://identifiers.org/clinvar/228996 ^@ NM_004999.3(MYO6):c.3610C>T (p.Arg1204Trp) http://identifiers.org/clinvar/228396 ^@ NM_000441.1(SLC26A4):c.2171A>G (p.Asp724Gly) http://identifiers.org/clinvar/228696 ^@ NM_021167.4(GATAD1):c.96T>G (p.His32Gln) http://identifiers.org/clinvar/228346 ^@ NM_000503.5(EYA1):c.396_406delGCCGTACGGCA (p.Gln132Hisfs) http://identifiers.org/clinvar/227896 ^@ NM_001134363.2(RBM20):c.600T>G (p.Thr200=) http://identifiers.org/clinvar/228246 ^@ NM_004281.3(BAG3):c.730C>T (p.Gln244Ter) http://identifiers.org/clinvar/229046 ^@ NM_006393.2(NEBL):c.2588C>G (p.Ser863Cys) http://identifiers.org/clinvar/228496 ^@ NM_022124.5(CDH23):c.5179A>G (p.Thr1727Ala) http://identifiers.org/clinvar/228796 ^@ NM_007078.2(LDB3):c.789G>A (p.Trp263Ter) http://identifiers.org/clinvar/227996 ^@ NM_005422.2(TECTA):c.2604G>T (p.Thr868=) http://identifiers.org/clinvar/228196 ^@ NM_153676.3(USH1C):c.7C>A (p.Arg3=) http://identifiers.org/clinvar/227795 ^@ NM_001277269.1(OTOG):c.7546G>A (p.Ala2516Thr) http://identifiers.org/clinvar/228896 ^@ NM_002471.3(MYH6):c.5101C>T (p.Arg1701Trp) http://identifiers.org/clinvar/228846 ^@ NM_002755.3(MAP2K1):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/228946 ^@ NM_016239.3(MYO15A):c.3005C>A (p.Thr1002Asn) http://identifiers.org/clinvar/228296 ^@ NM_024022.2(TMPRSS3):c.238C>T (p.Arg80Cys) http://identifiers.org/clinvar/228596 ^@ NM_004006.2(DMD):c.9362-3C>T http://identifiers.org/clinvar/228046 ^@ NM_144991.2(TSPEAR):c.1515G>A (p.Ser505=) http://identifiers.org/clinvar/228446 ^@ NM_001692.3(ATP6V1B1):c.1394G>T (p.Arg465Leu) http://identifiers.org/clinvar/230837 ^@ NM_000249.3(MLH1):c.1146G>C (p.Gln382His) http://identifiers.org/clinvar/231737 ^@ NM_003000.2(SDHB):c.194T>A (p.Leu65His) http://identifiers.org/clinvar/230487 ^@ NM_001128425.1(MUTYH):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/233177 ^@ NM_000465.3(BARD1):c.1161C>T (p.Phe387=) http://identifiers.org/clinvar/230637 ^@ NM_000465.3(BARD1):c.281A>C (p.Asp94Ala) http://identifiers.org/clinvar/230537 ^@ NM_000251.2(MSH2):c.186G>C (p.Gly62=) http://identifiers.org/clinvar/233027 ^@ NM_000251.2(MSH2):c.816G>A (p.Ala272=) http://identifiers.org/clinvar/231037 ^@ NM_000251.2(MSH2):c.1344delC (p.Lys449Serfs) http://identifiers.org/clinvar/233779 ^@ NM_000251.2(MSH2):c.1653T>A (p.Phe551Leu) http://identifiers.org/clinvar/232677 ^@ NM_000251.2(MSH2):c.2158A>G (p.Lys720Glu) http://identifiers.org/clinvar/230987 ^@ NM_000179.2(MSH6):c.2217A>G (p.Thr739=) http://identifiers.org/clinvar/231787 ^@ NM_000179.2(MSH6):c.2660_2662dupTTA (p.Leu887_Lys888insIle) http://identifiers.org/clinvar/231487 ^@ NM_000179.2(MSH6):c.2805_2806insTT (p.Asp936Leufs) http://identifiers.org/clinvar/233277 ^@ NM_000179.2(MSH6):c.3663A>G (p.Thr1221=) http://identifiers.org/clinvar/263812 ^@ NM_002474.2(MYH11):c.4884C>T (p.Asp1628=) http://identifiers.org/clinvar/263862 ^@ NM_002474.2(MYH11):c.472G>A (p.Ala158Thr) http://identifiers.org/clinvar/264212 ^@ NM_017636.3(TRPM4):c.618G>A (p.Ser206=) http://identifiers.org/clinvar/265247 ^@ NM_015702.2(MMADHC):c.472C>T (p.Arg158Ter) http://identifiers.org/clinvar/265599 ^@ NR_001566.1(TERC):n.109_123delTGACTTTCAGCGGGC http://identifiers.org/clinvar/265143 ^@ NM_012160.4(FBXL4):c.1641_1642delTG (p.Cys547Terfs) http://identifiers.org/clinvar/265699 ^@ NM_000089.3(COL1A2):c.1108G>T (p.Gly370Cys) http://identifiers.org/clinvar/265398 ^@ NM_017780.3(CHD7):c.151C>T (p.Gln51Ter) http://identifiers.org/clinvar/265298 ^@ NM_000077.4(CDKN2A):c.-19413C>G http://identifiers.org/clinvar/265649 ^@ NM_000051.3(ATM):c.4416delG (p.Ile1473Phefs) http://identifiers.org/clinvar/265548 ^@ NM_000051.3(ATM):c.6628delC (p.Gln2210Serfs) http://identifiers.org/clinvar/265194 ^@ NM_000206.2(IL2RG):c.270-15A>G http://identifiers.org/clinvar/265348 ^@ NM_000489.4(ATRX):c.1738delG (p.Ala580Leufs) http://identifiers.org/clinvar/265788 ^@ NR_033294.1(SNORD118):n.145C>T http://identifiers.org/clinvar/265938 ^@ NM_174936.3(PCSK9):c.996+65G>C http://identifiers.org/clinvar/265888 ^@ NM_000384.2(APOB):c.5690G>A (p.Arg1897His) http://identifiers.org/clinvar/265993 ^@ NM_000088.3(COL1A1):c.3935G>A (p.Trp1312Ter) http://identifiers.org/clinvar/266048 ^@ NM_012224.2(NEK1):c.1705T>A (p.Phe569Ile) http://identifiers.org/clinvar/266120 ^@ NM_000046.3(ARSB):c.290A>G (p.Gln97Arg) http://identifiers.org/clinvar/266620 ^@ NM_000059.3(BRCA2):c.1253C>G (p.Ser418Ter) http://identifiers.org/clinvar/266670 ^@ NM_000059.3(BRCA2):c.1943C>G (p.Ser648Ter) http://identifiers.org/clinvar/266820 ^@ NM_000059.3(BRCA2):c.4540_4541insCGAT (p.Glu1514Alafs) http://identifiers.org/clinvar/266870 ^@ NM_000059.3(BRCA2):c.5303_5311delTTGATTCTGinsA (p.Leu1768Glnfs) http://identifiers.org/clinvar/266920 ^@ NM_000059.3(BRCA2):c.6081dupA (p.Glu2028Argfs) http://identifiers.org/clinvar/266970 ^@ NM_000059.3(BRCA2):c.6676G>T (p.Glu2226Ter) http://identifiers.org/clinvar/267020 ^@ NM_000059.3(BRCA2):c.7558delC (p.Arg2520Glufs) http://identifiers.org/clinvar/267070 ^@ NM_000059.3(BRCA2):c.8324_8325insA (p.Met2775Ilefs) http://identifiers.org/clinvar/266520 ^@ NM_007294.3(BRCA1):c.5058_5059insCAAC (p.Val1687Glnfs) http://identifiers.org/clinvar/266470 ^@ NM_007294.3(BRCA1):c.4342dupA (p.Ser1448Lysfs) http://identifiers.org/clinvar/266420 ^@ NM_007294.3(BRCA1):c.3952_3955delATTG (p.Ile1318Valfs) http://identifiers.org/clinvar/266320 ^@ NM_007294.3(BRCA1):c.2917_2920delCTTT (p.Leu973Tyrfs) http://identifiers.org/clinvar/266270 ^@ NM_007294.3(BRCA1):c.2490_2497dupGTATCCAT (p.Leu833Cysfs) http://identifiers.org/clinvar/266220 ^@ NM_007294.3(BRCA1):c.2125_2126insAGT (p.Phe709_Asn1043delinsTer) http://identifiers.org/clinvar/266170 ^@ NM_007294.3(BRCA1):c.1504_1507delTTAA (p.Leu502Serfs) http://identifiers.org/clinvar/266570 ^@ NM_007294.3(BRCA1):c.704delA (p.Asn235Ilefs) http://identifiers.org/clinvar/266370 ^@ NM_007294.3(BRCA1):c.342delT (p.Pro115Leufs) http://identifiers.org/clinvar/267996 ^@ 46;XY;inv(4)(q12q13.2) http://identifiers.org/clinvar/268046 ^@ NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) http://identifiers.org/clinvar/268112 ^@ NM_024298.4(MBOAT7):c.758_778del21 (p.Glu253_Ala259del) http://identifiers.org/clinvar/268175 ^@ NM_005993.4(TBCD):c.1130G>A (p.Arg377Gln) http://identifiers.org/clinvar/279592 ^@ NM_001165963.1(SCN1A):c.1025C>A (p.Ala342Glu) http://identifiers.org/clinvar/280473 ^@ NM_005518.3(HMGCS2):c.862C>T (p.Arg288Ter) http://identifiers.org/clinvar/290899 ^@ NM_024408.3(NOTCH2):c.4699C>T (p.Arg1567Trp) http://identifiers.org/clinvar/290949 ^@ NM_014425.4(INVS):c.2224G>A (p.Val742Met) http://identifiers.org/clinvar/290999 ^@ NM_001793.5(CDH3):c.119C>A (p.Ala40Glu) http://identifiers.org/clinvar/291049 ^@ NM_000495.4(COL4A5):c.858T>C (p.Gly286=) http://identifiers.org/clinvar/291099 ^@ NM_015102.4(NPHP4):c.2647G>A (p.Val883Met) http://identifiers.org/clinvar/291149 ^@ NM_138694.3(PKHD1):c.10684C>A (p.His3562Asn) http://identifiers.org/clinvar/291200 ^@ NM_000392.4(ABCC2):c.577-3C>T http://identifiers.org/clinvar/291250 ^@ NM_138694.3(PKHD1):c.723G>A (p.Lys241=) http://identifiers.org/clinvar/291313 ^@ NM_213599.2(ANO5):c.758A>C (p.His253Pro) http://identifiers.org/clinvar/291415 ^@ NM_001918.3(DBT):c.*4281delC http://identifiers.org/clinvar/291465 ^@ NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr) http://identifiers.org/clinvar/294356 ^@ NM_003748.3(ALDH4A1):c.*210C>A http://identifiers.org/clinvar/294406 ^@ NM_024529.4(CDC73):c.-143G>C http://identifiers.org/clinvar/294556 ^@ NM_030787.3(CFHR5):c.*397C>G http://identifiers.org/clinvar/294906 ^@ NM_003465.2(CHIT1):c.*99G>A http://identifiers.org/clinvar/295156 ^@ NM_005216.4(DDOST):c.366C>T (p.Gly122=) http://identifiers.org/clinvar/295056 ^@ NM_000228.2(LAMB3):c.*392C>T http://identifiers.org/clinvar/294956 ^@ NM_000537.3(REN):c.649G>A (p.Gly217Arg) http://identifiers.org/clinvar/343448 ^@ NM_001063.3(TF):c.1688-4C>A http://identifiers.org/clinvar/343498 ^@ NM_024334.2(TMEM43):c.-130G>A http://identifiers.org/clinvar/343648 ^@ NM_000935.2(PLOD2):c.616-13T>A http://identifiers.org/clinvar/344548 ^@ NM_000461.4(THRB):c.*4920A>G http://identifiers.org/clinvar/344598 ^@ NM_000461.4(THRB):c.*2182T>C http://identifiers.org/clinvar/344698 ^@ NM_003242.5(TGFBR2):c.*1521G>A http://identifiers.org/clinvar/343898 ^@ NM_005677.3(COLQ):c.-121delGinsACACACGCA http://identifiers.org/clinvar/344048 ^@ NM_001041.3(SI):c.1797G>T (p.Ala599=) http://identifiers.org/clinvar/344098 ^@ NM_000055.3(BCHE):c.186A>G (p.Ala62=) http://identifiers.org/clinvar/344298 ^@ NM_145261.3(DNAJC19):c.118C>T (p.Leu40=) http://identifiers.org/clinvar/344348 ^@ NM_005787.5(ALG3):c.1084G>A (p.Val362Ile) http://identifiers.org/clinvar/345437 ^@ NM_024513.3(FYCO1):c.*3527G>A http://identifiers.org/clinvar/344648 ^@ NM_003242.5(TGFBR2):c.-307C>T http://identifiers.org/clinvar/344748 ^@ NM_015141.3(GPD1L):c.*1053G>A http://identifiers.org/clinvar/345587 ^@ NM_000316.2(PTH1R):c.436C>A (p.Arg146=) http://identifiers.org/clinvar/345637 ^@ NM_015175.2(NBEAL2):c.2375G>A (p.Arg792Gln) http://identifiers.org/clinvar/345687 ^@ NM_015175.2(NBEAL2):c.7177C>T (p.His2393Tyr) http://identifiers.org/clinvar/345837 ^@ NM_000094.3(COL7A1):c.5307+7G>C http://identifiers.org/clinvar/345987 ^@ NM_002292.3(LAMB2):c.3355G>A (p.Gly1119Ser) http://identifiers.org/clinvar/346037 ^@ NM_000481.3(AMT):c.152C>T (p.Ala51Val) http://identifiers.org/clinvar/346437 ^@ NM_198859.3(PRICKLE2):c.*2782C>G http://identifiers.org/clinvar/346537 ^@ NM_000248.3(MITF):c.*2458G>A http://identifiers.org/clinvar/346687 ^@ NM_002942.4(ROBO2):c.1544A>T (p.Asn515Ile) http://identifiers.org/clinvar/345537 ^@ NM_024513.3(FYCO1):c.753G>T (p.Glu251Asp) http://identifiers.org/clinvar/346787 ^@ NM_000158.3(GBE1):c.1604A>G (p.Tyr535Cys) http://identifiers.org/clinvar/345937 ^@ NM_000387.5(SLC25A20):c.*274C>T http://identifiers.org/clinvar/347287 ^@ NM_001963.5(EGF):c.*1356T>C http://identifiers.org/clinvar/346187 ^@ NM_052859.3(RFT1):c.957G>C (p.Gln319His) http://identifiers.org/clinvar/346237 ^@ NM_003392.4(WNT5A):c.*2011G>A http://identifiers.org/clinvar/346387 ^@ NM_001457.3(FLNB):c.*1217G>A http://identifiers.org/clinvar/343598 ^@ NM_001184.3(ATR):c.5899-8delT http://identifiers.org/clinvar/346737 ^@ NM_002942.4(ROBO2):c.*1579A>G http://identifiers.org/clinvar/348276 ^@ NM_001151.3(SLC25A4):c.*2529C>T http://identifiers.org/clinvar/343748 ^@ NG_011800.2:g.53675A>G http://identifiers.org/clinvar/343548 ^@ NM_004628.4(XPC):c.*792A>G http://identifiers.org/clinvar/348376 ^@ NM_000128.3(F11):c.1028+9T>C http://identifiers.org/clinvar/361992 ^@ NM_003235.4(TG):c.7202C>T (p.Ala2401Val) http://identifiers.org/clinvar/358293 ^@ NM_003227.3(TFR2):c.1076T>A (p.Ile359Asn) http://identifiers.org/clinvar/358443 ^@ NM_006348.3(COG5):c.*612G>C http://identifiers.org/clinvar/358493 ^@ NM_000441.1(SLC26A4):c.-8G>A http://identifiers.org/clinvar/358593 ^@ NM_000108.4(DLD):c.*1857A>C http://identifiers.org/clinvar/358643 ^@ NM_014491.3(FOXP2):c.*1947C>T http://identifiers.org/clinvar/354514 ^@ NM_002890.2(RASA1):c.1102+10T>C http://identifiers.org/clinvar/354414 ^@ NM_004385.4(VCAN):c.3188T>C (p.Leu1063Pro) http://identifiers.org/clinvar/358993 ^@ NM_005989.3(AKR1D1):c.*1311A>C http://identifiers.org/clinvar/354614 ^@ NM_000439.4(PCSK1):c.*1842G>A http://identifiers.org/clinvar/354464 ^@ NM_004385.4(VCAN):c.9291G>A (p.Pro3097=) http://identifiers.org/clinvar/359093 ^@ NM_000083.2(CLCN1):c.215G>C (p.Arg72Thr) http://identifiers.org/clinvar/354814 ^@ NM_007214.4(SEC63):c.*3510T>A http://identifiers.org/clinvar/363081 ^@ NM_006749.4(SLC20A2):c.909G>A (p.Ala303=) http://identifiers.org/clinvar/359343 ^@ NM_016203.3(PRKAG2):c.*55C>T http://identifiers.org/clinvar/359493 ^@ NM_001101426.3(ISPD):c.*3281_*3282dupAA http://identifiers.org/clinvar/363381 ^@ NM_017813.4(IMPAD1):c.*1338C>G http://identifiers.org/clinvar/363481 ^@ NM_017780.3(CHD7):c.8213C>T (p.Thr2738Met) http://identifiers.org/clinvar/363831 ^@ NM_000067.2(CA2):c.-84_-82dupCCC http://identifiers.org/clinvar/364031 ^@ NM_001001557.3(GDF6):c.*276T>C http://identifiers.org/clinvar/364231 ^@ NM_014425.4(INVS):c.2441C>T (p.Ala814Val) http://identifiers.org/clinvar/364381 ^@ NM_005502.3(ABCA1):c.6183C>T (p.Gly2061=) http://identifiers.org/clinvar/355804 ^@ NM_033071.3(SYNE1):c.*103C>A http://identifiers.org/clinvar/364781 ^@ NM_018249.5(CDK5RAP2):c.703G>A (p.Ala235Thr) http://identifiers.org/clinvar/356304 ^@ NM_006929.4(SKIV2L):c.-224G>A http://identifiers.org/clinvar/361132 ^@ NM_015713.4(RRM2B):c.*3125T>C http://identifiers.org/clinvar/356654 ^@ NM_005943.5(MOCS1):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/356704 ^@ NM_002098.5(GUCA1B):c.*1088G>C http://identifiers.org/clinvar/361232 ^@ NM_178857.5(RP1L1):c.6043G>T (p.Glu2015Ter) http://identifiers.org/clinvar/356554 ^@ NM_182548.3(LHFPL5):c.*1035C>T http://identifiers.org/clinvar/356604 ^@ NM_005943.5(MOCS1):c.*2173G>C http://identifiers.org/clinvar/356854 ^@ NM_014780.4(CUL7):c.733-12T>G http://identifiers.org/clinvar/356954 ^@ NM_006502.2(POLH):c.*1940G>A http://identifiers.org/clinvar/356754 ^@ NM_000322.4(PRPH2):c.*1121A>C http://identifiers.org/clinvar/361483 ^@ NM_001715.2(BLK):c.639C>T (p.Cys213=) http://identifiers.org/clinvar/356804 ^@ NM_000287.3(PEX6):c.690G>A (p.Glu230=) http://identifiers.org/clinvar/357054 ^@ NM_020745.3(AARS2):c.*9C>T http://identifiers.org/clinvar/361792 ^@ NM_004519.3(KCNQ3):c.*5482A>G http://identifiers.org/clinvar/311121 ^@ NM_001846.3(COL4A2):c.1208C>T (p.Pro403Leu) http://identifiers.org/clinvar/367510 ^@ NM_004560.3(ROR2):c.935G>A (p.Arg312His) http://identifiers.org/clinvar/367610 ^@ NM_000136.2(FANCC):c.38A>G (p.Gln13Arg) http://identifiers.org/clinvar/311771 ^@ NM_015087.4(SPG20):c.360A>G (p.Lys120=) http://identifiers.org/clinvar/311871 ^@ NM_001127217.2(SMAD9):c.*805C>T http://identifiers.org/clinvar/312021 ^@ NM_207361.5(FREM2):c.7936T>G (p.Ser2646Ala) http://identifiers.org/clinvar/312121 ^@ NM_207361.5(FREM2):c.*6265G>A http://identifiers.org/clinvar/367360 ^@ NM_033305.2(VPS13A):c.2037+8C>A http://identifiers.org/clinvar/364081 ^@ NM_000380.3(XPA):c.*428T>C http://identifiers.org/clinvar/364131 ^@ NM_004612.3(TGFBR1):c.*2081G>T http://identifiers.org/clinvar/364181 ^@ NM_004612.3(TGFBR1):c.*4202A>G http://identifiers.org/clinvar/304462 ^@ NM_003477.2(PDHX):c.161-6T>C http://identifiers.org/clinvar/313060 ^@ NM_025152.2(NUBPL):c.*1149_*1150insA http://identifiers.org/clinvar/313110 ^@ NM_020529.2(NFKBIA):c.581G>C (p.Gly194Ala) http://identifiers.org/clinvar/313160 ^@ NM_006194.3(PAX9):c.-218G>A http://identifiers.org/clinvar/304612 ^@ NM_021926.3(ALX4):c.*3805G>A http://identifiers.org/clinvar/313660 ^@ NM_182914.2(SYNE2):c.20383-13G>A http://identifiers.org/clinvar/313760 ^@ NM_000347.5(SPTB):c.1707G>A (p.Lys569=) http://identifiers.org/clinvar/313910 ^@ NM_015346.3(ZFYVE26):c.2481C>A (p.Pro827=) http://identifiers.org/clinvar/314060 ^@ NM_031427.3(DNAL1):c.*2456A>T http://identifiers.org/clinvar/314110 ^@ NM_031427.3(DNAL1):c.*5980G>A http://identifiers.org/clinvar/314210 ^@ NM_182894.2(VSX2):c.*250C>T http://identifiers.org/clinvar/299484 ^@ NM_001081.3(CUBN):c.4020C>G (p.Leu1340=) http://identifiers.org/clinvar/314660 ^@ NM_004863.3(SPTLC2):c.*152A>T http://identifiers.org/clinvar/300134 ^@ NM_000242.2(MBL2):c.*1135A>G http://identifiers.org/clinvar/299584 ^@ NM_201590.2(CACNB2):c.*463_*466dupGACT http://identifiers.org/clinvar/300334 ^@ NM_001083116.1(PRF1):c.286C>A (p.Arg96=) http://identifiers.org/clinvar/300384 ^@ NM_018344.5(SLC29A3):c.*705G>A http://identifiers.org/clinvar/299834 ^@ NM_021252.4(RAB18):c.*757G>T http://identifiers.org/clinvar/300584 ^@ NM_004273.4(CHST3):c.*851T>C http://identifiers.org/clinvar/306338 ^@ NM_012193.3(FZD4):c.*4516C>T http://identifiers.org/clinvar/300684 ^@ NM_004273.4(CHST3):c.*4869G>A http://identifiers.org/clinvar/306438 ^@ NM_001814.5(CTSC):c.-62C>T http://identifiers.org/clinvar/300734 ^@ NM_002658.4(PLAU):c.-32G>A http://identifiers.org/clinvar/315799 ^@ NM_002225.3(IVD):c.793+13G>A http://identifiers.org/clinvar/300184 ^@ NM_033056.3(PCDH15):c.2823G>T (p.Lys941Asn) http://identifiers.org/clinvar/300834 ^@ NM_001123.3(ADK):c.-75T>C http://identifiers.org/clinvar/300234 ^@ NM_000417.2(IL2RA):c.*969G>A http://identifiers.org/clinvar/315949 ^@ NM_138477.2(CDAN1):c.1322C>T (p.Ala441Val) http://identifiers.org/clinvar/311171 ^@ NM_001846.3(COL4A2):c.4089G>A (p.Ala1363=) http://identifiers.org/clinvar/311221 ^@ NM_000131.4(F7):c.130+11A>T http://identifiers.org/clinvar/311321 ^@ NM_021954.3(GJA3):c.*553C>T http://identifiers.org/clinvar/309977 ^@ NM_000075.3(CDK4):c.*210G>A http://identifiers.org/clinvar/311671 ^@ NM_000059.3(BRCA2):c.*416G>T http://identifiers.org/clinvar/311921 ^@ NM_001127217.2(SMAD9):c.-264C>T http://identifiers.org/clinvar/311971 ^@ NM_207361.5(FREM2):c.4031G>A (p.Arg1344His) http://identifiers.org/clinvar/312071 ^@ NM_207361.5(FREM2):c.*2428G>A http://identifiers.org/clinvar/337908 ^@ NM_198994.2(TGM6):c.717G>A (p.Gln239=) http://identifiers.org/clinvar/338008 ^@ NM_006899.4(IDH3B):c.*235A>G http://identifiers.org/clinvar/338108 ^@ NM_015338.5(ASXL1):c.3360G>A (p.Lys1120=) http://identifiers.org/clinvar/311071 ^@ NM_001845.5(COL4A1):c.781-12G>A http://identifiers.org/clinvar/311271 ^@ NM_000504.3(F10):c.257-12C>T http://identifiers.org/clinvar/320002 ^@ NM_020312.3(COQ9):c.-25C>G http://identifiers.org/clinvar/311371 ^@ NM_004004.5(GJB2):c.*104A>T http://identifiers.org/clinvar/320052 ^@ NM_001297.4(CNGB1):c.*111T>C http://identifiers.org/clinvar/311521 ^@ NM_014363.5(SACS):c.8022T>G (p.Phe2674Leu) http://identifiers.org/clinvar/339009 ^@ NM_004738.4(VAPB):c.*5699_*5700insA http://identifiers.org/clinvar/320452 ^@ NM_001361.4(DHODH):c.*748C>T http://identifiers.org/clinvar/311821 ^@ NM_001127217.2(SMAD9):c.*3562C>T http://identifiers.org/clinvar/320602 ^@ NM_021615.4(CHST6):c.1082T>C (p.Val361Ala) http://identifiers.org/clinvar/320652 ^@ NM_022041.3(GAN):c.132G>A (p.Gln44=) http://identifiers.org/clinvar/313510 ^@ NM_182914.2(SYNE2):c.4931C>T (p.Ala1644Val) http://identifiers.org/clinvar/312171 ^@ NM_014252.3(SLC25A15):c.-245C>T http://identifiers.org/clinvar/339748 ^@ NM_000219.5(KCNE1):c.*1338C>T http://identifiers.org/clinvar/313860 ^@ NM_015346.3(ZFYVE26):c.*774G>A http://identifiers.org/clinvar/312221 ^@ NM_003701.3(TNFSF11):c.-141C>T http://identifiers.org/clinvar/339798 ^@ NM_001754.4(RUNX1):c.*4003C>T http://identifiers.org/clinvar/339848 ^@ NM_001754.4(RUNX1):c.*1213C>G http://identifiers.org/clinvar/321491 ^@ NM_000833.4(GRIN2A):c.*7112A>C http://identifiers.org/clinvar/340248 ^@ NM_130445.3(COL18A1):c.2577+9C>T http://identifiers.org/clinvar/340348 ^@ NM_001848.2(COL6A1):c.*635G>A http://identifiers.org/clinvar/326483 ^@ NM_001943.4(DSG2):c.2162A>G (p.His721Arg) http://identifiers.org/clinvar/367860 ^@ NM_001167.3(XIAP):c.*6221G>A http://identifiers.org/clinvar/326933 ^@ NM_001080467.2(MYO5B):c.*3000C>T http://identifiers.org/clinvar/367910 ^@ NM_194277.2(FRMD7):c.458G>A (p.Cys153Tyr) http://identifiers.org/clinvar/367960 ^@ NM_003413.3(ZIC3):c.*1237A>T http://identifiers.org/clinvar/327133 ^@ NM_005359.5(SMAD4):c.*1820T>G http://identifiers.org/clinvar/327183 ^@ NM_005359.5(SMAD4):c.*5535_*5547delACGCGCGCGCGCAinsGCG http://identifiers.org/clinvar/327333 ^@ NM_000140.3(FECH):c.*4598T>G http://identifiers.org/clinvar/327383 ^@ NM_000140.3(FECH):c.*2441G>T http://identifiers.org/clinvar/327733 ^@ NM_003839.3(TNFRSF11A):c.555T>C (p.His185=) http://identifiers.org/clinvar/327783 ^@ NM_005786.5(TSHZ1):c.-235T>C http://identifiers.org/clinvar/337708 ^@ NM_018848.3(MKKS):c.-562C>T http://identifiers.org/clinvar/337808 ^@ NM_024411.4(PDYN):c.*1396C>T http://identifiers.org/clinvar/338358 ^@ NM_153638.3(PANK2):c.272C>T (p.Pro91Leu) http://identifiers.org/clinvar/338458 ^@ NM_000457.4(HNF4A):c.*1132C>T http://identifiers.org/clinvar/339898 ^@ NM_144492.2(CLDN14):c.-326G>A http://identifiers.org/clinvar/337758 ^@ NM_000214.2(JAG1):c.526G>A (p.Val176Ile) http://identifiers.org/clinvar/340148 ^@ NM_000211.4(ITGB2):c.1697C>T (p.Pro566Leu) http://identifiers.org/clinvar/338058 ^@ NM_033118.3(MYLK2):c.*615C>G http://identifiers.org/clinvar/338158 ^@ NM_006892.3(DNMT3B):c.904A>G (p.Met302Val) http://identifiers.org/clinvar/338208 ^@ NM_003098.2(SNTA1):c.*122G>A http://identifiers.org/clinvar/340448 ^@ NM_006657.2(FTCD):c.92C>T (p.Pro31Leu) http://identifiers.org/clinvar/340498 ^@ NM_006031.5(PCNT):c.5027T>C (p.Ile1676Thr) http://identifiers.org/clinvar/340699 ^@ NM_014339.6(IL17RA):c.*3976G>A http://identifiers.org/clinvar/338658 ^@ NM_000311.4(PRNP):c.*216G>A http://identifiers.org/clinvar/340799 ^@ NM_017929.5(PEX26):c.*1740C>G http://identifiers.org/clinvar/338759 ^@ NM_020436.4(SALL4):c.*211dupA http://identifiers.org/clinvar/339698 ^@ NM_000628.4(IL10RB):c.*85A>G http://identifiers.org/clinvar/339948 ^@ NM_000411.6(HLCS):c.*985C>A http://identifiers.org/clinvar/381516 ^@ NM_003172.3(SURF1):c.269T>C (p.Leu90Pro) http://identifiers.org/clinvar/377452 ^@ NM_018238.3(AGK):c.297+18A>G http://identifiers.org/clinvar/392378 ^@ NM_203447.3(DOCK8):c.1004C>T (p.Ser335Leu) http://identifiers.org/clinvar/385261 ^@ NM_007078.2(LDB3):c.897-16G>C http://identifiers.org/clinvar/377703 ^@ NM_014141.5(CNTNAP2):c.633C>A (p.Val211=) http://identifiers.org/clinvar/387850 ^@ NM_000238.3(KCNH2):c.2692+5G>T http://identifiers.org/clinvar/390089 ^@ NM_021830.4(TWNK):c.801T>G (p.Leu267=) http://identifiers.org/clinvar/381266 ^@ NM_000051.3(ATM):c.7516-6T>C http://identifiers.org/clinvar/381066 ^@ NM_018109.3(MTPAP):c.960C>T (p.Ser320=) http://identifiers.org/clinvar/388400 ^@ NM_000535.6(PMS2):c.164-16A>G http://identifiers.org/clinvar/387300 ^@ NM_032667.6(BSCL2):c.240A>T (p.Ser80=) http://identifiers.org/clinvar/377753 ^@ NM_001876.3(CPT1A):c.453+9G>A http://identifiers.org/clinvar/392078 ^@ NM_030962.3(SBF2):c.257A>G (p.Tyr86Cys) http://identifiers.org/clinvar/377503 ^@ NM_000051.3(ATM):c.496+18T>C http://identifiers.org/clinvar/385111 ^@ NM_002485.4(NBN):c.171+9C>T http://identifiers.org/clinvar/381466 ^@ NM_006231.3(POLE):c.2174-15C>T http://identifiers.org/clinvar/381817 ^@ NM_003640.4(IKBKAP):c.2015-20T>C http://identifiers.org/clinvar/388350 ^@ NM_024740.2(ALG9):c.790-4T>C http://identifiers.org/clinvar/385011 ^@ NM_016035.4(COQ4):c.-20C>G http://identifiers.org/clinvar/382218 ^@ NM_001931.4(DLAT):c.1815-15T>C http://identifiers.org/clinvar/387950 ^@ NM_000256.3(MYBPC3):c.1227-4C>G http://identifiers.org/clinvar/391528 ^@ NM_006831.2(CLP1):c.552G>C (p.Leu184=) http://identifiers.org/clinvar/387800 ^@ NM_001130438.2(SPTAN1):c.4785G>A (p.Gln1595=) http://identifiers.org/clinvar/382167 ^@ NM_004572.3(PKP2):c.224-18A>T http://identifiers.org/clinvar/382017 ^@ NM_004517.3(ILK):c.279C>A (p.Ile93=) http://identifiers.org/clinvar/387900 ^@ NM_006231.3(POLE):c.6405C>T (p.Val2135=) http://identifiers.org/clinvar/383459 ^@ NM_024698.5(SLC25A22):c.146+20G>T http://identifiers.org/clinvar/392328 ^@ NM_017617.4(NOTCH1):c.4860C>T (p.Tyr1620=) http://identifiers.org/clinvar/392778 ^@ NM_017617.4(NOTCH1):c.1670-18G>A http://identifiers.org/clinvar/381316 ^@ NM_021625.4(TRPV4):c.712+19C>A http://identifiers.org/clinvar/380614 ^@ NM_000719.6(CACNA1C):c.1332C>T (p.Ala444=) http://identifiers.org/clinvar/377603 ^@ NM_000719.6(CACNA1C):c.1508+15C>T http://identifiers.org/clinvar/385411 ^@ NM_032374.4(APOPT1):c.425-12A>G http://identifiers.org/clinvar/380714 ^@ NM_182914.2(SYNE2):c.237+6A>G http://identifiers.org/clinvar/389889 ^@ NM_020297.3(ABCC9):c.2457A>G (p.Arg819=) http://identifiers.org/clinvar/392878 ^@ NM_012064.3(MIP):c.526-2A>C http://identifiers.org/clinvar/392628 ^@ NM_004990.3(MARS):c.853A>T (p.Ile285Phe) http://identifiers.org/clinvar/382268 ^@ NM_020987.4(ANK3):c.1162G>A (p.Asp388Asn) http://identifiers.org/clinvar/389439 ^@ NM_007078.2(LDB3):c.1562A>G (p.Tyr521Cys) http://identifiers.org/clinvar/386750 ^@ NM_001376.4(DYNC1H1):c.12513+17C>T http://identifiers.org/clinvar/393128 ^@ NM_001271.3(CHD2):c.59C>G (p.Ser20Trp) http://identifiers.org/clinvar/385511 ^@ NM_006493.2(CLN5):c.168G>A (p.Thr56=) http://identifiers.org/clinvar/389289 ^@ NM_000732.4(CD3D):c.411C>T (p.Ala137=) http://identifiers.org/clinvar/383259 ^@ NM_006493.2(CLN5):c.712+20C>T http://identifiers.org/clinvar/385911 ^@ NM_013382.5(POMT2):c.1944A>G (p.Thr648=) http://identifiers.org/clinvar/378205 ^@ NM_002474.2(MYH11):c.3927C>T (p.Asp1309=) http://identifiers.org/clinvar/380765 ^@ NM_001482.2(GATM):c.-11G>A http://identifiers.org/clinvar/389789 ^@ NM_000548.4(TSC2):c.3100G>A (p.Val1034Ile) http://identifiers.org/clinvar/385061 ^@ NM_002180.2(IGHMBP2):c.1236-6G>A http://identifiers.org/clinvar/389639 ^@ NM_020778.4(ALPK3):c.2128T>G (p.Cys710Gly) http://identifiers.org/clinvar/392578 ^@ NM_032790.3(ORAI1):c.-16C>G http://identifiers.org/clinvar/385611 ^@ NM_152269.4(C12orf65):c.473T>C (p.Leu158Pro) http://identifiers.org/clinvar/390339 ^@ NM_002474.2(MYH11):c.2076G>A (p.Ala692=) http://identifiers.org/clinvar/47676 ^@ NM_133378.4(TTN):c.9701A>G (p.Asn3234Ser) http://identifiers.org/clinvar/41 ^@ NM_001083961.1(WDR62):c.1576G>A (p.Glu526Lys) http://identifiers.org/clinvar/125 ^@ NM_000071.2(CBS):c.797G>A (p.Arg266Lys) http://identifiers.org/clinvar/157 ^@ NM_000274.3(OAT):c.1250C>T (p.Pro417Leu) http://identifiers.org/clinvar/203 ^@ NM_024598.3(USB1):c.502A>G (p.Arg168Gly) http://identifiers.org/clinvar/244 ^@ NM_000398.6(CYB5R3):c.350C>G (p.Thr117Ser) http://identifiers.org/clinvar/359 ^@ NM_000267.3(NF1):c.5944-5A>G http://identifiers.org/clinvar/387 ^@ NM_000308.3(CTSA):c.571_572delTT (p.Phe191Profs) http://identifiers.org/clinvar/578 ^@ NM_000277.1(PAH):c.932T>C (p.Leu311Pro) http://identifiers.org/clinvar/791 ^@ NM_001136271.2(NKX2-6):c.451T>C (p.Phe151Leu) http://identifiers.org/clinvar/800 ^@ NM_000038.5(APC):c.2138C>G (p.Ser713Ter) http://identifiers.org/clinvar/832 ^@ NM_000038.5(APC):c.2093T>A (p.Leu698Ter) http://identifiers.org/clinvar/855 ^@ NM_080669.5(SLC46A1):c.337C>T (p.Arg113Cys) http://identifiers.org/clinvar/1115 ^@ NM_025137.3(SPG11):c.7152-1G>C http://identifiers.org/clinvar/1201 ^@ NM_020381.3(PDSS2):c.1145C>T (p.Ser382Leu) http://identifiers.org/clinvar/1298 ^@ NM_001042702.3(DFNB59):c.161C>T (p.Thr54Ile) http://identifiers.org/clinvar/1342 ^@ NM_025114.3(CEP290):c.613C>T (p.Arg205Ter) http://identifiers.org/clinvar/1389 ^@ NM_017777.3(MKS1):c.50_54dupCCCGG (p.Asp19Profs) http://identifiers.org/clinvar/1433 ^@ NG_017008.1:g.8205_8305del101 http://identifiers.org/clinvar/1479 ^@ HMBS, 2-BP DEL, 847TG http://identifiers.org/clinvar/1524 ^@ NM_000237.2(LPL):c.397C>T (p.Gln133Ter) http://identifiers.org/clinvar/1614 ^@ NM_014780.4(CUL7):c.4391A>C (p.His1464Pro) http://identifiers.org/clinvar/1664 ^@ NM_000785.3(CYP27B1):c.262delG (p.Val88Trpfs) http://identifiers.org/clinvar/1709 ^@ NM_000124.3(ERCC6):c.-546C>G http://identifiers.org/clinvar/1756 ^@ NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) http://identifiers.org/clinvar/1805 ^@ CYP17A1, 9-BP DEL http://identifiers.org/clinvar/1850 ^@ NM_001193311.1(SUGCT):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/1896 ^@ BTD, 15-BP DEL/11-BP INS http://identifiers.org/clinvar/1940 ^@ NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) http://identifiers.org/clinvar/1986 ^@ FREM2, IVS14, G-A, +1 http://identifiers.org/clinvar/2075 ^@ NM_020435.3(GJC2):c.814T>G (p.Tyr272Asp) http://identifiers.org/clinvar/2120 ^@ NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) http://identifiers.org/clinvar/2167 ^@ NM_007214.4(SEC63):c.173G>A (p.Trp58Ter) http://identifiers.org/clinvar/2212 ^@ NM_024006.5(VKORC1):c.106G>T (p.Asp36Tyr) http://identifiers.org/clinvar/2258 ^@ NM_000101.3(CYBA):c.269G>A (p.Arg90Gln) http://identifiers.org/clinvar/2303 ^@ NM_005609.3(PYGM):c.1996C>G (p.Gln666Glu) http://identifiers.org/clinvar/2349 ^@ NM_016341.3(PLCE1):c.5560C>T (p.Gln1854Ter) http://identifiers.org/clinvar/2395 ^@ NM_000045.3(ARG1):c.57+1G>A http://identifiers.org/clinvar/3073 ^@ NM_000487.5(ARSA):c.736C>T (p.Arg246Cys) http://identifiers.org/clinvar/3120 ^@ NM_000218.2(KCNQ1):c.1022C>A (p.Ala341Glu) http://identifiers.org/clinvar/3172 ^@ NM_000187.3(HGD):c.1112A>G (p.His371Arg) http://identifiers.org/clinvar/3218 ^@ NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) http://identifiers.org/clinvar/3267 ^@ NM_024529.4(CDC73):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/3311 ^@ NM_000383.3(AIRE):c.1103dupC (p.Leu370Alafs) http://identifiers.org/clinvar/3357 ^@ NM_006445.3(PRPF8):c.6929G>A (p.Arg2310Lys) http://identifiers.org/clinvar/10156 ^@ NM_000132.3(F8):c.121G>T (p.Gly41Cys) http://identifiers.org/clinvar/10200 ^@ NM_000132.3(F8):c.1026T>A (p.Tyr342Ter) http://identifiers.org/clinvar/10246 ^@ NM_000132.3(F8):c.2167G>A (p.Ala723Thr) http://identifiers.org/clinvar/11196 ^@ ARX, 1-BP DEL, 1372G http://identifiers.org/clinvar/11446 ^@ NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) http://identifiers.org/clinvar/11497 ^@ NM_003159.2(CDKL5):c.525A>T (p.Arg175Ser) http://identifiers.org/clinvar/12092 ^@ NM_001724.4(BPGM):c.61delC (p.Arg21Valfs) http://identifiers.org/clinvar/12142 ^@ NM_000148.3(FUT1):c.725T>G (p.Leu242Arg) http://identifiers.org/clinvar/12196 ^@ VCL, 3-BP DEL, 2862GTT http://identifiers.org/clinvar/12248 ^@ CDH1, IVS4DS, T-A, +2 http://identifiers.org/clinvar/12298 ^@ NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr) http://identifiers.org/clinvar/12350 ^@ NM_000546.5(TP53):c.755T>C (p.Leu252Pro) http://identifiers.org/clinvar/12401 ^@ NM_000548.4(TSC2):c.4508A>C (p.Gln1503Pro) http://identifiers.org/clinvar/12453 ^@ NM_152263.3(TPM3):c.502C>G (p.Arg168Gly) http://identifiers.org/clinvar/12503 ^@ NM_003242.5(TGFBR2):c.1576G>C (p.Glu526Gln) http://identifiers.org/clinvar/12553 ^@ NM_001128177.1(THRB):c.959G>A (p.Arg320His) http://identifiers.org/clinvar/12604 ^@ NM_005343.3(HRAS):c.38G>A (p.Gly13Asp) http://identifiers.org/clinvar/12654 ^@ NM_133378.4(TTN):c.100136T>A (p.Ile33379Asn) http://identifiers.org/clinvar/12705 ^@ NM_003235.4(TG):c.7007G>A (p.Arg2336Gln) http://identifiers.org/clinvar/12756 ^@ NM_014654.3(SDC3):c.622G>A (p.Val208Ile) http://identifiers.org/clinvar/12806 ^@ NM_004959.4(NR5A1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/12856 ^@ NM_003126.2(SPTA1):c.83G>A (p.Arg28His) http://identifiers.org/clinvar/12907 ^@ NM_000343.3(SLC5A1):c.82G>A (p.Asp28Asn) http://identifiers.org/clinvar/12957 ^@ NM_001035.2(RYR2):c.13489C>T (p.Arg4497Cys) http://identifiers.org/clinvar/13008 ^@ NM_144563.2(RPIA):c.404C>T (p.Ala135Val) http://identifiers.org/clinvar/13059 ^@ NM_000324.2(RHAG):c.236G>A (p.Ser79Asn) http://identifiers.org/clinvar/13110 ^@ NM_000440.2(PDE6A):c.1749C>G (p.Tyr583Ter) http://identifiers.org/clinvar/13160 ^@ NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) http://identifiers.org/clinvar/13212 ^@ NM_003018.3(SFTPC):c.347C>A (p.Ala116Asp) http://identifiers.org/clinvar/13263 ^@ NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) http://identifiers.org/clinvar/13314 ^@ NM_000506.3(F2):c.1785C>G (p.Asp595Glu) http://identifiers.org/clinvar/13364 ^@ NM_001042465.2(PSAP):c.1154G>T (p.Cys385Phe) http://identifiers.org/clinvar/13418 ^@ NM_000371.3(TTR):c.157T>A (p.Phe53Ile) http://identifiers.org/clinvar/13520 ^@ PKD2, 1-BP INS, 693C http://identifiers.org/clinvar/36643 ^@ NM_000432.3(MYL2):c.170-19T>C http://identifiers.org/clinvar/36695 ^@ NM_016203.3(PRKAG2):c.1106+15T>G http://identifiers.org/clinvar/36748 ^@ NM_001035.2(RYR2):c.7365C>T (p.Asp2455=) http://identifiers.org/clinvar/36799 ^@ NM_000545.6(HNF1A):c.1310-12C>T http://identifiers.org/clinvar/36849 ^@ NM_000458.3(HNF1B):c.477delT (p.Met160Terfs) http://identifiers.org/clinvar/36900 ^@ NM_000551.3(VHL):c.320G>C (p.Arg107Pro) http://identifiers.org/clinvar/36971 ^@ NM_021150.3(GRIP1):c.1181_1184delAAGA (p.Lys394Thrfs) http://identifiers.org/clinvar/37073 ^@ NM_001197104.1(KMT2A):c.6913delT (p.Ser2305Leufs) http://identifiers.org/clinvar/37138 ^@ NM_022787.3(NMNAT1):c.710G>T (p.Arg237Leu) http://identifiers.org/clinvar/37289 ^@ ZNF423, HIS1277TYR http://identifiers.org/clinvar/37360 ^@ NM_000155.3(GALT):c.680T>C (p.Leu227Pro) http://identifiers.org/clinvar/37425 ^@ NM_007294.3(BRCA1):c.1674delA (p.Gly559Valfs) http://identifiers.org/clinvar/37477 ^@ NM_007294.3(BRCA1):c.2603C>G (p.Ser868Ter) http://identifiers.org/clinvar/37535 ^@ NM_007294.3(BRCA1):c.3648dupA (p.Ser1217Ilefs) http://identifiers.org/clinvar/37588 ^@ NM_007294.3(BRCA1):c.4391_4393delCTAinsTT (p.Pro1464Leufs) http://identifiers.org/clinvar/37640 ^@ NM_007294.3(BRCA1):c.5123C>T (p.Ala1708Val) http://identifiers.org/clinvar/37697 ^@ NM_007294.3(BRCA1):c.783T>G (p.Tyr261Ter) http://identifiers.org/clinvar/37748 ^@ NM_000059.3(BRCA2):c.1593dupA (p.Glu532Argfs) http://identifiers.org/clinvar/37906 ^@ NM_000059.3(BRCA2):c.4472_4475delTGAA (p.Leu1491Glnfs) http://identifiers.org/clinvar/37959 ^@ NM_000059.3(BRCA2):c.5350_5351delAA (p.Asn1784Hisfs) http://identifiers.org/clinvar/38011 ^@ NM_000059.3(BRCA2):c.5980C>T (p.Gln1994Ter) http://identifiers.org/clinvar/38066 ^@ NM_000059.3(BRCA2):c.682-10A>G http://identifiers.org/clinvar/38116 ^@ NM_000059.3(BRCA2):c.7758G>A (p.Trp2586Ter) http://identifiers.org/clinvar/38166 ^@ NM_000059.3(BRCA2):c.8501delC (p.Thr2834Asnfs) http://identifiers.org/clinvar/38216 ^@ NM_000059.3(BRCA2):c.9118-6C>T http://identifiers.org/clinvar/39240 ^@ NM_198578.3(LRRK2):c.7397T>A (p.Leu2466His) http://identifiers.org/clinvar/39291 ^@ NR_001566.1(TERC):n.323C>T http://identifiers.org/clinvar/39453 ^@ ATP6V0A2, 1-BP INS, 100A http://identifiers.org/clinvar/39505 ^@ NM_003094.3(SNRPE):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/39555 ^@ NM_019032.5(ADAMTSL4):c.767_786del20 (p.Gln256Profs) http://identifiers.org/clinvar/39606 ^@ NM_014254.2(TMEM5):c.1064_1091del28 (p.Asp355Valfs) http://identifiers.org/clinvar/39657 ^@ NM_000834.3(GRIN2B):c.99dupC (p.Ser34Glnfs) http://identifiers.org/clinvar/39709 ^@ NM_000720.3(CACNA1D):c.1208_1209insGGG (p.Gly403_Val404insGly) http://identifiers.org/clinvar/39760 ^@ NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) http://identifiers.org/clinvar/39810 ^@ NM_133497.3(KCNV2):c.8_11delAACA (p.Lys3Argfs) http://identifiers.org/clinvar/39861 ^@ NM_001080414.3(CCDC88C):c.934C>T (p.Arg312Ter) http://identifiers.org/clinvar/40045 ^@ NM_001256849.1(POLD1):c.980C>T (p.Pro327Leu) http://identifiers.org/clinvar/40336 ^@ NM_004333.4(BRAF):c.76G>A (p.Glu26Lys) http://identifiers.org/clinvar/40408 ^@ NM_005188.3(CBL):c.1227+20dup http://identifiers.org/clinvar/40476 ^@ NM_002524.4(NRAS):c.360G>A (p.Leu120=) http://identifiers.org/clinvar/40536 ^@ NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) http://identifiers.org/clinvar/40598 ^@ NM_002880.3(RAF1):c.679A>G (p.Ser227Gly) http://identifiers.org/clinvar/40665 ^@ NM_005633.3(SOS1):c.1230G>A (p.Gln410=) http://identifiers.org/clinvar/40752 ^@ NM_002755.3(MAP2K1):c.657G>C (p.Met219Ile) http://identifiers.org/clinvar/40870 ^@ NM_024334.2(TMEM43):c.253G>A (p.Glu85Lys) http://identifiers.org/clinvar/41021 ^@ NM_000530.7(MPZ):c.389A>G (p.Lys130Arg) http://identifiers.org/clinvar/41077 ^@ NM_003611.2(OFD1):c.1358T>A (p.Leu453Ter) http://identifiers.org/clinvar/41133 ^@ OFD1:c.653-6A>G http://identifiers.org/clinvar/41185 ^@ NM_003977.3(AIP):c.490C>T (p.Gln164Ter) http://identifiers.org/clinvar/51145 ^@ NM_000059.3(BRCA2):c.1572delG (p.Met524Ilefs) http://identifiers.org/clinvar/51196 ^@ NM_000059.3(BRCA2):c.1797_1801delTTATA (p.Tyr600Argfs) http://identifiers.org/clinvar/51249 ^@ NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) http://identifiers.org/clinvar/51299 ^@ NM_000059.3(BRCA2):c.2517C>A (p.Tyr839Ter) http://identifiers.org/clinvar/51350 ^@ NM_000059.3(BRCA2):c.2805_2808delTAAA (p.Ala938Profs) http://identifiers.org/clinvar/51400 ^@ NM_000059.3(BRCA2):c.3103G>T (p.Glu1035Ter) http://identifiers.org/clinvar/51452 ^@ NM_000059.3(BRCA2):c.3354delA (p.Glu1119Lysfs) http://identifiers.org/clinvar/51503 ^@ NM_000059.3(BRCA2):c.3677A>T (p.Lys1226Ile) http://identifiers.org/clinvar/51553 ^@ NM_000059.3(BRCA2):c.3893T>C (p.Ile1298Thr) http://identifiers.org/clinvar/51605 ^@ NM_000059.3(BRCA2):c.4139_4140dupTT (p.Lys1381Leufs) http://identifiers.org/clinvar/51657 ^@ NM_000059.3(BRCA2):c.449A>G (p.His150Arg) http://identifiers.org/clinvar/51709 ^@ NM_000059.3(BRCA2):c.475+1G>T http://identifiers.org/clinvar/51759 ^@ NM_000059.3(BRCA2):c.5045delG (p.Ser1682Ilefs) http://identifiers.org/clinvar/51811 ^@ NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn) http://identifiers.org/clinvar/51864 ^@ NM_000059.3(BRCA2):c.5454delA (p.Cys1820Alafs) http://identifiers.org/clinvar/51917 ^@ NM_000059.3(BRCA2):c.5726A>G (p.Asp1909Gly) http://identifiers.org/clinvar/51968 ^@ NM_000059.3(BRCA2):c.5945dupG (p.Ser1982Argfs) http://identifiers.org/clinvar/52923 ^@ NM_000059.3(BRCA2):c.993_994dupAA (p.Ile332Lysfs) http://identifiers.org/clinvar/52973 ^@ NM_000218.2(KCNQ1):c.1265delA (p.Lys422Serfs) http://identifiers.org/clinvar/53279 ^@ NM_000492.3(CFTR):c.1523T>C (p.Phe508Ser) http://identifiers.org/clinvar/53330 ^@ NM_000492.3(CFTR):c.1678A>G (p.Arg560Gly) http://identifiers.org/clinvar/53380 ^@ NM_000492.3(CFTR):c.1766+5G>A http://identifiers.org/clinvar/53431 ^@ NM_000492.3(CFTR):c.204A>T (p.Lys68Asn) http://identifiers.org/clinvar/53485 ^@ NM_000492.3(CFTR):c.2399C>G (p.Ala800Gly) http://identifiers.org/clinvar/53535 ^@ NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter) http://identifiers.org/clinvar/53585 ^@ NM_000492.3(CFTR):c.287C>A (p.Ala96Glu) http://identifiers.org/clinvar/53636 ^@ NM_000492.3(CFTR):c.3039delC (p.Tyr1014Thrfs) http://identifiers.org/clinvar/53688 ^@ NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) http://identifiers.org/clinvar/53738 ^@ NM_000492.3(CFTR):c.3419T>A (p.Met1140Lys) http://identifiers.org/clinvar/53789 ^@ NM_000492.3(CFTR):c.3717+40A>G http://identifiers.org/clinvar/53843 ^@ NM_000492.3(CFTR):c.3891dupT (p.Gly1298Trpfs) http://identifiers.org/clinvar/53893 ^@ NM_000492.3(CFTR):c.4115C>T (p.Pro1372Leu) http://identifiers.org/clinvar/53944 ^@ NM_000492.3(CFTR):c.44dupT (p.Ser18Glnfs) http://identifiers.org/clinvar/53994 ^@ NM_000492.3(CFTR):c.54-1161_164+1603del2875 http://identifiers.org/clinvar/54044 ^@ NM_000492.3(CFTR):c.713C>T (p.Ala238Val) http://identifiers.org/clinvar/54096 ^@ NM_000492.3(CFTR):c.980delT (p.Leu327Glnfs) http://identifiers.org/clinvar/54146 ^@ NM_007294.3(BRCA1):c.114G>A (p.Lys38=) http://identifiers.org/clinvar/54196 ^@ NM_007294.3(BRCA1):c.1319T>C (p.Leu440Ser) http://identifiers.org/clinvar/54246 ^@ NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) http://identifiers.org/clinvar/54347 ^@ NM_007294.3(BRCA1):c.1786C>G (p.Leu596Val) http://identifiers.org/clinvar/54398 ^@ NM_007294.3(BRCA1):c.1912delG (p.Glu638Asnfs) http://identifiers.org/clinvar/54448 ^@ NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter) http://identifiers.org/clinvar/54498 ^@ NM_007294.3(BRCA1):c.2206delG (p.Glu736Lysfs) http://identifiers.org/clinvar/54548 ^@ NM_007294.3(BRCA1):c.2359delG (p.Glu787Lysfs) http://identifiers.org/clinvar/54598 ^@ NM_007294.3(BRCA1):c.2556dupT (p.Asp853Terfs) http://identifiers.org/clinvar/54648 ^@ NM_007294.3(BRCA1):c.2689_2690insA (p.Pro897Hisfs) http://identifiers.org/clinvar/54698 ^@ NM_007294.3(BRCA1):c.2844_2853delAGGCTCTAGG (p.Gly949Phefs) http://identifiers.org/clinvar/55394 ^@ NM_007294.3(BRCA1):c.5091_5092delTG (p.Cys1697Terfs) http://identifiers.org/clinvar/55444 ^@ NM_007294.3(BRCA1):c.5177_5178delGA (p.Arg1726Lysfs) http://identifiers.org/clinvar/55496 ^@ NM_007294.3(BRCA1):c.5277+3A>C http://identifiers.org/clinvar/55547 ^@ NM_007294.3(BRCA1):c.5355G>T (p.Gln1785His) http://identifiers.org/clinvar/55597 ^@ NM_007294.3(BRCA1):c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs) http://identifiers.org/clinvar/55647 ^@ NM_007294.3(BRCA1):c.616C>T (p.Gln206Ter) http://identifiers.org/clinvar/55700 ^@ NM_007294.3(BRCA1):c.788G>C (p.Gly263Ala) http://identifiers.org/clinvar/55751 ^@ NM_007294.3(BRCA1):c.911delT (p.Phe304Serfs) http://identifiers.org/clinvar/55823 ^@ NM_005236.2(ERCC4):c.1484_1488delCTCAA (p.Thr495Asnfs) http://identifiers.org/clinvar/55885 ^@ NM_001258221.1(KCTD1):c.99C>A (p.His33Gln) http://identifiers.org/clinvar/55959 ^@ NM_000100.3(CSTB):c.169-2A>G http://identifiers.org/clinvar/56009 ^@ NM_000111.2(SLC26A3):c.915C>A (p.Tyr305Ter) http://identifiers.org/clinvar/56062 ^@ NM_000170.2(GLDC):c.2186delC (p.Ala729Glufs) http://identifiers.org/clinvar/56114 ^@ NM_000274.3(OAT):c.1181G>A (p.Cys394Tyr) http://identifiers.org/clinvar/56168 ^@ NM_002273.3(KRT8):c.1033G>T (p.Ala345Ser) http://identifiers.org/clinvar/56218 ^@ NM_000310.3(PPT1):c.886T>C (p.Trp296Arg) http://identifiers.org/clinvar/56269 ^@ NM_001042432.1(CLN3):c.424delG (p.Val142Leufs) http://identifiers.org/clinvar/56321 ^@ NM_001081.3(CUBN):c.1530G>A (p.Lys510=) http://identifiers.org/clinvar/56371 ^@ NM_001126105.2(SLC7A7):c.563C>T (p.Thr188Ile) http://identifiers.org/clinvar/56423 ^@ NM_004646.3(NPHS1):c.1102C>T (p.Pro368Ser) http://identifiers.org/clinvar/56473 ^@ NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) http://identifiers.org/clinvar/56523 ^@ NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) http://identifiers.org/clinvar/56575 ^@ NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/56632 ^@ NM_017890.4(VPS13B):c.11125delC (p.Leu3709Serfs) http://identifiers.org/clinvar/56682 ^@ NM_017890.4(VPS13B):c.6687delA (p.Gln2229Hisfs) http://identifiers.org/clinvar/56732 ^@ NM_025114.3(CEP290):c.1860_1861delAA (p.Asp622Phefs) http://identifiers.org/clinvar/56783 ^@ NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) http://identifiers.org/clinvar/102503 ^@ NM_000277.1(PAH):c.1065+39G>T http://identifiers.org/clinvar/102561 ^@ NM_000277.1(PAH):c.1199G>A (p.Arg400Lys) http://identifiers.org/clinvar/102612 ^@ NM_000277.1(PAH):c.169-?_352+?del http://identifiers.org/clinvar/102667 ^@ NM_000277.1(PAH):c.434A>T (p.Asp145Val) http://identifiers.org/clinvar/102718 ^@ NM_000277.1(PAH):c.514C>T (p.Gln172Ter) http://identifiers.org/clinvar/102768 ^@ NM_000277.1(PAH):c.635T>C (p.Leu212Pro) http://identifiers.org/clinvar/102819 ^@ NM_000277.1(PAH):c.743T>C (p.Leu248Pro) http://identifiers.org/clinvar/102871 ^@ NM_000277.1(PAH):c.842+3G>C http://identifiers.org/clinvar/126498 ^@ NM_003638.2(ITGA8):c.2982+2T>C http://identifiers.org/clinvar/126579 ^@ NM_024675.3(PALB2):c.-98C>A http://identifiers.org/clinvar/126629 ^@ NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) http://identifiers.org/clinvar/126681 ^@ NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) http://identifiers.org/clinvar/126731 ^@ NM_024675.3(PALB2):c.3306C>G (p.Ser1102Arg) http://identifiers.org/clinvar/126782 ^@ NM_024675.3(PALB2):c.956C>A (p.Ser319Tyr) http://identifiers.org/clinvar/126833 ^@ NM_000321.2(RB1):c.1216-1G>A http://identifiers.org/clinvar/126887 ^@ NM_017545.2(HAO1):c.289+8188C>T http://identifiers.org/clinvar/126942 ^@ NM_001127464.2(ZNF469):c.337G>A (p.Glu113Lys) http://identifiers.org/clinvar/126992 ^@ NM_005732.3(RAD50):c.-284C>A http://identifiers.org/clinvar/127042 ^@ NM_134424.3(RAD52):c.*992T>G http://identifiers.org/clinvar/127166 ^@ NM_001101.3(ACTB):c.34A>C (p.Asn12His) http://identifiers.org/clinvar/127265 ^@ NM_018014.3(BCL11A):c.386-24278G>A http://identifiers.org/clinvar/127316 ^@ NM_000038.5(APC):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/127366 ^@ NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) http://identifiers.org/clinvar/127416 ^@ NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) http://identifiers.org/clinvar/127466 ^@ NM_000051.3(ATM):c.8968G>A (p.Glu2990Lys) http://identifiers.org/clinvar/127517 ^@ NM_000057.3(BLM):c.842A>C (p.His281Pro) http://identifiers.org/clinvar/127567 ^@ NM_000179.2(MSH6):c.190G>C (p.Ala64Pro) http://identifiers.org/clinvar/127618 ^@ NM_000249.3(MLH1):c.170A>C (p.Lys57Thr) http://identifiers.org/clinvar/127674 ^@ NM_000314.6(PTEN):c.-798G>C http://identifiers.org/clinvar/127727 ^@ NM_000465.3(BARD1):c.1977A>G (p.Arg659=) http://identifiers.org/clinvar/127777 ^@ NM_000535.6(PMS2):c.2288A>G (p.Glu763Gly) http://identifiers.org/clinvar/160374 ^@ NM_012275.2(IL36RN):c.304C>T (p.Arg102Trp) http://identifiers.org/clinvar/160826 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/160879 ^@ GRCh38/hg38 17q12(chr17:36357258-37889296)x3 http://identifiers.org/clinvar/160930 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 http://identifiers.org/clinvar/160981 ^@ GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 http://identifiers.org/clinvar/161032 ^@ GRCh38/hg38 2q37.3(chr2:241988449-242065208)x3 http://identifiers.org/clinvar/161082 ^@ GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 http://identifiers.org/clinvar/161132 ^@ NM_152296.4(ATP1A3):c.2263G>A (p.Gly755Ser) http://identifiers.org/clinvar/161214 ^@ NM_000724.3(CACNB2):c.1015G>A (p.Val339Ile) http://identifiers.org/clinvar/161314 ^@ NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met) http://identifiers.org/clinvar/161264 ^@ NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) http://identifiers.org/clinvar/161364 ^@ NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) http://identifiers.org/clinvar/161421 ^@ NM_000100.3(CSTB):c.168+2_168+21delinsAA http://identifiers.org/clinvar/161783 ^@ NM_032511.3(FAXC):c.892C>G (p.Gln298Glu) http://identifiers.org/clinvar/161633 ^@ NM_005392.3(PHF2):c.2563G>A (p.Asp855Asn) http://identifiers.org/clinvar/161533 ^@ NM_001145265.1(SLC35C1):c.517G>A (p.Asp173Asn) http://identifiers.org/clinvar/161683 ^@ NM_014756.3(CKAP5):c.721A>G (p.Lys241Glu) http://identifiers.org/clinvar/161483 ^@ NM_001005202.1(OR8K3):c.700C>A (p.Gln234Lys) http://identifiers.org/clinvar/161583 ^@ NM_001793.5(CDH3):c.235G>A (p.Glu79Lys) http://identifiers.org/clinvar/161733 ^@ NM_020653.3(ZNF287):c.1093G>C (p.Glu365Gln) http://identifiers.org/clinvar/161833 ^@ NM_173728.3(ARHGEF15):c.1897C>T (p.Arg633Trp) http://identifiers.org/clinvar/161997 ^@ NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) http://identifiers.org/clinvar/162063 ^@ NM_006888.4(CALM1):c.72C>T (p.Gly24=) http://identifiers.org/clinvar/162123 ^@ NM_005211.3(CSF1R):c.1957T>C (p.Cys653Arg) http://identifiers.org/clinvar/162182 ^@ NM_006766.4(KAT6A):c.4292dupT (p.Leu1431Phefs) http://identifiers.org/clinvar/179412 ^@ NM_005572.3(LMNA):c.1231G>T (p.Gly411Cys) http://identifiers.org/clinvar/165106 ^@ NM_001035.2(RYR2):c.7075C>A (p.Arg2359=) http://identifiers.org/clinvar/179462 ^@ NM_133378.4(TTN):c.30239A>G (p.Lys10080Arg) http://identifiers.org/clinvar/179262 ^@ NM_133378.4(TTN):c.23979C>T (p.Ser7993=) http://identifiers.org/clinvar/164872 ^@ NM_194248.2(OTOF):c.1317T>C (p.Asn439=) http://identifiers.org/clinvar/198449 ^@ NM_000086.2(CLN3):c.399T>C (p.Ile133=) http://identifiers.org/clinvar/198502 ^@ NM_004006.2(DMD):c.547dupT (p.Trp183Leufs) http://identifiers.org/clinvar/198554 ^@ NM_013382.5(POMT2):c.890C>T (p.Thr297Ile) http://identifiers.org/clinvar/198606 ^@ NM_053025.3(MYLK):c.439C>T (p.Pro147Ser) http://identifiers.org/clinvar/198657 ^@ NM_001267550.2(TTN):c.22145_22146delTT (p.Phe7382Terfs) http://identifiers.org/clinvar/198708 ^@ NM_000282.3(PCCA):c.627A>G (p.Ala209=) http://identifiers.org/clinvar/198763 ^@ NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) http://identifiers.org/clinvar/198815 ^@ NM_005199.4(CHRNG):c.806-7T>C http://identifiers.org/clinvar/201220 ^@ NM_001035.2(RYR2):c.1675A>G (p.Ile559Val) http://identifiers.org/clinvar/201166 ^@ NM_001035.2(RYR2):c.3517A>G (p.Met1173Val) http://identifiers.org/clinvar/201277 ^@ NM_001035.2(RYR2):c.7160C>T (p.Ala2387Val) http://identifiers.org/clinvar/201391 ^@ NM_001035.2(RYR2):c.8378G>A (p.Arg2793Gln) http://identifiers.org/clinvar/201331 ^@ NM_001035.2(RYR2):c.12373G>T (p.Val4125Phe) http://identifiers.org/clinvar/201499 ^@ NM_198056.2(SCN5A):c.3650T>G (p.Leu1217Arg) http://identifiers.org/clinvar/201558 ^@ NM_198056.2(SCN5A):c.2103delG (p.Leu702Cysfs) http://identifiers.org/clinvar/201444 ^@ NM_198056.2(SCN5A):c.787G>A (p.Val263Ile) http://identifiers.org/clinvar/199893 ^@ NM_004415.3(DSP):c.5789C>G (p.Thr1930Arg) http://identifiers.org/clinvar/200257 ^@ NM_000238.3(KCNH2):c.3153-15C>T http://identifiers.org/clinvar/200799 ^@ NM_000238.3(KCNH2):c.3017delG (p.Gly1006Alafs) http://identifiers.org/clinvar/200680 ^@ NM_000238.3(KCNH2):c.2906delG (p.Gly969Valfs) http://identifiers.org/clinvar/200405 ^@ NM_000238.3(KCNH2):c.2026C>T (p.Gln676Ter) http://identifiers.org/clinvar/200573 ^@ NM_000238.3(KCNH2):c.274C>T (p.Arg92Cys) http://identifiers.org/clinvar/200856 ^@ NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) http://identifiers.org/clinvar/200978 ^@ NM_130799.2(MEN1):c.654+1G>T http://identifiers.org/clinvar/200175 ^@ NM_000138.4(FBN1):c.8544delA (p.Lys2848Asnfs) http://identifiers.org/clinvar/200117 ^@ NM_000138.4(FBN1):c.7600C>A (p.Leu2534Met) http://identifiers.org/clinvar/200063 ^@ NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) http://identifiers.org/clinvar/199948 ^@ NM_000138.4(FBN1):c.3077T>C (p.Phe1026Ser) http://identifiers.org/clinvar/200008 ^@ NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) http://identifiers.org/clinvar/201047 ^@ NM_002474.2(MYH11):c.791-13C>G http://identifiers.org/clinvar/201100 ^@ NM_002474.2(MYH11):c.633+1933G>A http://identifiers.org/clinvar/200917 ^@ NM_000527.4(LDLR):c.1773C>T (p.Asn591=) http://identifiers.org/clinvar/201672 ^@ NM_014391.2(ANKRD1):c.795dupT (p.Lys266Terfs) http://identifiers.org/clinvar/201617 ^@ NM_020297.3(ABCC9):c.2197A>G (p.Asn733Asp) http://identifiers.org/clinvar/201728 ^@ NM_004006.2(DMD):c.1028G>A (p.Arg343His) http://identifiers.org/clinvar/233880 ^@ NM_000038.5(APC):c.7208A>C (p.Gln2403Pro) http://identifiers.org/clinvar/232237 ^@ NM_000038.5(APC):c.7893C>T (p.Ser2631=) http://identifiers.org/clinvar/229798 ^@ NM_000038.5(APC):c.8150G>A (p.Gly2717Asp) http://identifiers.org/clinvar/232137 ^@ NM_005732.3(RAD50):c.3704_3706delCAA (p.Thr1235del) http://identifiers.org/clinvar/230398 ^@ NM_000535.6(PMS2):c.795T>C (p.Asn265=) http://identifiers.org/clinvar/232437 ^@ NM_000535.6(PMS2):c.681C>T (p.Ile227=) http://identifiers.org/clinvar/232738 ^@ NM_002485.4(NBN):c.1659G>A (p.Met553Ile) http://identifiers.org/clinvar/232337 ^@ NM_002485.4(NBN):c.1454C>T (p.Thr485Met) http://identifiers.org/clinvar/233088 ^@ NM_020975.4(RET):c.2913G>A (p.Glu971=) http://identifiers.org/clinvar/230298 ^@ NM_004329.2(BMPR1A):c.530+4A>G http://identifiers.org/clinvar/232688 ^@ NM_000051.3(ATM):c.462A>G (p.Lys154=) http://identifiers.org/clinvar/232087 ^@ NM_000051.3(ATM):c.695T>G (p.Ile232Ser) http://identifiers.org/clinvar/231937 ^@ NM_000051.3(ATM):c.1179_1180delGG (p.Trp393Terfs) http://identifiers.org/clinvar/229698 ^@ NM_000051.3(ATM):c.2380A>C (p.Ser794Arg) http://identifiers.org/clinvar/230248 ^@ NM_000051.3(ATM):c.3385G>A (p.Glu1129Lys) http://identifiers.org/clinvar/233138 ^@ NM_000051.3(ATM):c.5618G>A (p.Cys1873Tyr) http://identifiers.org/clinvar/231987 ^@ NM_000051.3(ATM):c.6577G>A (p.Val2193Ile) http://identifiers.org/clinvar/230348 ^@ NM_000051.3(ATM):c.7066A>T (p.Ile2356Phe) http://identifiers.org/clinvar/230098 ^@ NM_000051.3(ATM):c.8072G>A (p.Arg2691His) http://identifiers.org/clinvar/233930 ^@ NM_000051.3(ATM):c.8218C>T (p.Gln2740Ter) http://identifiers.org/clinvar/234230 ^@ NM_000051.3(ATM):c.8355T>C (p.Asp2785=) http://identifiers.org/clinvar/232638 ^@ NM_005591.3(MRE11):c.1505G>A (p.Arg502His) http://identifiers.org/clinvar/232487 ^@ NM_005591.3(MRE11):c.1143T>C (p.Phe381=) http://identifiers.org/clinvar/234130 ^@ NM_000059.3(BRCA2):c.2046C>T (p.Ile682=) http://identifiers.org/clinvar/232838 ^@ NM_000059.3(BRCA2):c.3201T>G (p.Thr1067=) http://identifiers.org/clinvar/232588 ^@ NM_000059.3(BRCA2):c.5707A>G (p.Ile1903Val) http://identifiers.org/clinvar/233980 ^@ NM_000059.3(BRCA2):c.7168A>G (p.Asn2390Asp) http://identifiers.org/clinvar/232537 ^@ NM_000059.3(BRCA2):c.7826G>T (p.Gly2609Val) http://identifiers.org/clinvar/229748 ^@ NM_024675.3(PALB2):c.2296_2297delTC (p.Val767Leufs) http://identifiers.org/clinvar/232938 ^@ NM_004360.4(CDH1):c.2464C>T (p.Pro822Ser) http://identifiers.org/clinvar/229998 ^@ NM_004360.4(CDH1):c.*5C>G http://identifiers.org/clinvar/229848 ^@ NM_001042492.2(NF1):c.5423C>T (p.Thr1808Met) http://identifiers.org/clinvar/232187 ^@ NM_001042492.2(NF1):c.7245A>G (p.Thr2415=) http://identifiers.org/clinvar/233238 ^@ NM_007294.3(BRCA1):c.5534A>G (p.Tyr1845Cys) http://identifiers.org/clinvar/232037 ^@ NM_007294.3(BRCA1):c.5407G>A (p.Gly1803Ser) http://identifiers.org/clinvar/232788 ^@ NM_007294.3(BRCA1):c.4909C>T (p.Pro1637Ser) http://identifiers.org/clinvar/233188 ^@ NM_007294.3(BRCA1):c.884A>G (p.Asp295Gly) http://identifiers.org/clinvar/234030 ^@ NM_032043.2(BRIP1):c.2825G>A (p.Cys942Tyr) http://identifiers.org/clinvar/233038 ^@ NM_032043.2(BRIP1):c.468A>G (p.Val156=) http://identifiers.org/clinvar/229898 ^@ NM_005359.5(SMAD4):c.930C>G (p.Phe310Leu) http://identifiers.org/clinvar/229948 ^@ NM_007194.3(CHEK2):c.1399T>G (p.Leu467Val) http://identifiers.org/clinvar/235005 ^@ NM_170707.3(LMNA):c.967_968delCT (p.Leu323Glyfs) http://identifiers.org/clinvar/235055 ^@ NM_001035.2(RYR2):c.6757C>G (p.Leu2253Val) http://identifiers.org/clinvar/235143 ^@ NM_152263.3(TPM3):c.673_675delGAA (p.Glu225del) http://identifiers.org/clinvar/235243 ^@ NM_004525.2(LRP2):c.2476A>T (p.Asn826Tyr) http://identifiers.org/clinvar/235296 ^@ NM_022455.4(NSD1):c.708G>C (p.Gln236His) http://identifiers.org/clinvar/235348 ^@ NM_000495.4(COL4A5):c.1111G>A (p.Gly371Arg) http://identifiers.org/clinvar/235782 ^@ NC_012920.1:m.10321T>C http://identifiers.org/clinvar/235853 ^@ NM_001083962.1(TCF4):c.520C>T (p.Arg174Ter) http://identifiers.org/clinvar/238223 ^@ NM_001035.2(RYR2):c.14148C>A (p.Asp4716Glu) http://identifiers.org/clinvar/241427 ^@ NM_022114.3(PRDM16):c.2741T>C (p.Met914Thr) http://identifiers.org/clinvar/237823 ^@ NM_000465.3(BARD1):c.1569-?_*3030+?del http://identifiers.org/clinvar/237372 ^@ NM_000251.2(MSH2):c.1638G>C (p.Lys546Asn) http://identifiers.org/clinvar/237171 ^@ NM_000179.2(MSH6):c.2932C>G (p.Gln978Glu) http://identifiers.org/clinvar/240977 ^@ NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) http://identifiers.org/clinvar/241227 ^@ NM_017849.3(TMEM127):c.619G>A (p.Ala207Thr) http://identifiers.org/clinvar/237773 ^@ NM_000388.3(CASR):c.854G>A (p.Arg285Gln) http://identifiers.org/clinvar/237322 ^@ NM_000249.3(MLH1):c.1808C>T (p.Pro603Leu) http://identifiers.org/clinvar/240677 ^@ NM_006514.3(SCN10A):c.4655C>T (p.Ala1552Val) http://identifiers.org/clinvar/238273 ^@ NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) http://identifiers.org/clinvar/237272 ^@ NM_000222.2(KIT):c.2923G>A (p.Asp975Asn) http://identifiers.org/clinvar/240927 ^@ NM_014845.5(FIG4):c.328A>G (p.Ile110Val) http://identifiers.org/clinvar/263015 ^@ NM_182925.4(FLT4):c.1049A>T (p.Glu350Val) http://identifiers.org/clinvar/263065 ^@ NM_182925.4(FLT4):c.58+28C>G http://identifiers.org/clinvar/261176 ^@ NM_019105.6(TNXB):c.9434-12_9434-10delTCT http://identifiers.org/clinvar/261126 ^@ NM_019105.6(TNXB):c.1734C>T (p.Asp578=) http://identifiers.org/clinvar/255187 ^@ NM_000129.3(F13A1):c.996A>C (p.Pro332=) http://identifiers.org/clinvar/259336 ^@ NM_004370.5(COL12A1):c.5213T>C (p.Ile1738Thr) http://identifiers.org/clinvar/263115 ^@ NM_198428.2(BBS9):c.1275+28G>T http://identifiers.org/clinvar/255437 ^@ NM_000168.5(GLI3):c.3772C>G (p.Leu1258Val) http://identifiers.org/clinvar/260926 ^@ NM_017802.3(DNAAF5):c.1270G>A (p.Ala424Thr) http://identifiers.org/clinvar/260176 ^@ NM_012082.3(ZFPM2):c.2976T>C (p.Tyr992=) http://identifiers.org/clinvar/260276 ^@ NM_012472.5(LRRC6):c.408A>G (p.Val136=) http://identifiers.org/clinvar/254787 ^@ NM_000067.2(CA2):c.562T>C (p.Leu188=) http://identifiers.org/clinvar/255137 ^@ NM_000113.2(TOR1A):c.749-11C>A http://identifiers.org/clinvar/255087 ^@ NM_000093.4(COL5A1):c.4290C>T (p.Ala1430=) http://identifiers.org/clinvar/255687 ^@ NM_000264.3(PTCH1):c.585-34G>C http://identifiers.org/clinvar/260376 ^@ NM_014290.2(TDRD7):c.1629+7A>G http://identifiers.org/clinvar/261326 ^@ NM_020549.4(CHAT):c.1111+45G>A http://identifiers.org/clinvar/259286 ^@ NM_004329.2(BMPR1A):c.1343-11T>C http://identifiers.org/clinvar/260726 ^@ NM_016341.3(PLCE1):c.5669C>T (p.Pro1890Leu) http://identifiers.org/clinvar/260476 ^@ NM_014956.4(CEP164):c.1935-5C>G http://identifiers.org/clinvar/255487 ^@ NM_000190.3(HMBS):c.88-14G>A http://identifiers.org/clinvar/263315 ^@ NM_213599.2(ANO5):c.2688C>G (p.Ala896=) http://identifiers.org/clinvar/261026 ^@ NM_018389.4(SLC35C1):c.*49G>A http://identifiers.org/clinvar/255737 ^@ NM_000282.3(PCCA):c.862A>C (p.Arg288=) http://identifiers.org/clinvar/261226 ^@ NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) http://identifiers.org/clinvar/260326 ^@ NM_014080.4(DUOX2):c.413C>T (p.Pro138Leu) http://identifiers.org/clinvar/255287 ^@ NM_000138.4(FBN1):c.2113+19A>T http://identifiers.org/clinvar/335862 ^@ NM_014946.3(SPAST):c.*1544dupG http://identifiers.org/clinvar/336012 ^@ NM_005633.3(SOS1):c.*298C>G http://identifiers.org/clinvar/333471 ^@ NM_032977.3(CASP10):c.*1982delT http://identifiers.org/clinvar/333271 ^@ NM_007315.3(STAT1):c.1632+6G>A http://identifiers.org/clinvar/333671 ^@ NM_001204.6(BMPR2):c.*1401C>T http://identifiers.org/clinvar/333321 ^@ NM_001006657.1(WDR35):c.*2990G>T http://identifiers.org/clinvar/336569 ^@ NM_001135659.2(NRXN1):c.-563G>C http://identifiers.org/clinvar/333771 ^@ NM_005006.6(NDUFS1):c.*457T>A http://identifiers.org/clinvar/333371 ^@ NM_001006657.1(WDR35):c.3154+12A>C http://identifiers.org/clinvar/333421 ^@ NM_032977.3(CASP10):c.361G>A (p.Glu121Lys) http://identifiers.org/clinvar/336819 ^@ NM_002056.3(GFPT1):c.*3134A>G http://identifiers.org/clinvar/336869 ^@ NM_002056.3(GFPT1):c.*112C>T http://identifiers.org/clinvar/336062 ^@ NM_022437.2(ABCG8):c.64-7C>T http://identifiers.org/clinvar/336112 ^@ NM_133259.3(LRPPRC):c.*1665C>T http://identifiers.org/clinvar/334072 ^@ NM_000384.2(APOB):c.13102C>G (p.Gln4368Glu) http://identifiers.org/clinvar/336969 ^@ NM_003494.3(DYSF):c.3973A>G (p.Ile1325Val) http://identifiers.org/clinvar/336262 ^@ NM_001430.4(EPAS1):c.1206G>A (p.Gln402=) http://identifiers.org/clinvar/334122 ^@ NM_000384.2(APOB):c.7984A>C (p.Thr2662Pro) http://identifiers.org/clinvar/333821 ^@ NM_014929.3(FASTKD2):c.*1036C>T http://identifiers.org/clinvar/333871 ^@ NM_006891.3(CRYGD):c.264C>G (p.His88Gln) http://identifiers.org/clinvar/333921 ^@ NM_015040.3(PIKFYVE):c.4455G>A (p.Ser1485=) http://identifiers.org/clinvar/334022 ^@ NM_001875.4(CPS1):c.1359+7G>A http://identifiers.org/clinvar/334323 ^@ NM_015488.4(PNKD):c.652C>A (p.Arg218=) http://identifiers.org/clinvar/337519 ^@ NM_014014.4(SNRNP200):c.*257C>G http://identifiers.org/clinvar/336669 ^@ NM_002618.3(PEX13):c.856G>A (p.Val286Ile) http://identifiers.org/clinvar/334423 ^@ NM_025216.2(WNT10A):c.*441C>T http://identifiers.org/clinvar/336719 ^@ NM_032180.2(FAM161A):c.*1100T>C http://identifiers.org/clinvar/334223 ^@ NM_173076.2(ABCA12):c.7240-17_7240-15delTGT http://identifiers.org/clinvar/334573 ^@ NM_003590.4(CUL3):c.*3753T>C http://identifiers.org/clinvar/337019 ^@ NM_015120.4(ALMS1):c.6073A>G (p.Lys2025Glu) http://identifiers.org/clinvar/334473 ^@ NM_015311.2(OBSL1):c.4441G>A (p.Val1481Met) http://identifiers.org/clinvar/334523 ^@ NM_015311.2(OBSL1):c.1317C>T (p.Asp439=) http://identifiers.org/clinvar/334973 ^@ NM_000751.2(CHRND):c.1359C>T (p.Asn453=) http://identifiers.org/clinvar/337369 ^@ NM_022912.2(REEP1):c.*1675G>A http://identifiers.org/clinvar/337419 ^@ NM_004836.6(EIF2AK3):c.719G>A (p.Arg240His) http://identifiers.org/clinvar/337469 ^@ NM_017849.3(TMEM127):c.*2101_*2103delTTT http://identifiers.org/clinvar/337619 ^@ NM_020184.3(CNNM4):c.*2259_*2261delGTT http://identifiers.org/clinvar/334923 ^@ NM_152383.4(DIS3L2):c.-142T>A http://identifiers.org/clinvar/343259 ^@ NM_052985.3(IFT122):c.2993G>A (p.Arg998His) http://identifiers.org/clinvar/335023 ^@ NM_005199.4(CHRNG):c.*568C>T http://identifiers.org/clinvar/335912 ^@ NM_000104.3(CYP1B1):c.*2349G>A http://identifiers.org/clinvar/335962 ^@ NM_000104.3(CYP1B1):c.-360G>C http://identifiers.org/clinvar/336162 ^@ NM_133259.3(LRPPRC):c.1583-14A>G http://identifiers.org/clinvar/350728 ^@ NM_001999.3(FBN2):c.*1420A>C http://identifiers.org/clinvar/357604 ^@ NM_001723.5(DST):c.2242A>G (p.Asn748Asp) http://identifiers.org/clinvar/350828 ^@ NM_003060.3(SLC22A5):c.*960dupA http://identifiers.org/clinvar/358204 ^@ NM_183050.3(BCKDHB):c.*1444T>C http://identifiers.org/clinvar/358254 ^@ NM_014165.3(NDUFAF4):c.*1154A>G http://identifiers.org/clinvar/358454 ^@ NM_006348.3(COG5):c.2116C>T (p.Arg706Cys) http://identifiers.org/clinvar/358654 ^@ NM_014491.3(FOXP2):c.*2265G>T http://identifiers.org/clinvar/358804 ^@ NM_006193.2(PAX4):c.432C>T (p.Val144=) http://identifiers.org/clinvar/351667 ^@ NM_024577.3(SH3TC2):c.*13923T>C http://identifiers.org/clinvar/358904 ^@ NM_018718.2(CEP41):c.*3741A>T http://identifiers.org/clinvar/355865 ^@ NM_033071.3(SYNE1):c.15256G>A (p.Glu5086Lys) http://identifiers.org/clinvar/355965 ^@ NM_032122.4(DTNBP1):c.668-8A>G http://identifiers.org/clinvar/351817 ^@ NM_024577.3(SH3TC2):c.*4719C>G http://identifiers.org/clinvar/352065 ^@ NM_000112.3(SLC26A2):c.*2612C>T http://identifiers.org/clinvar/356165 ^@ NM_001080.3(ALDH5A1):c.*1268C>A http://identifiers.org/clinvar/352115 ^@ NM_005211.3(CSF1R):c.*231C>G http://identifiers.org/clinvar/359893 ^@ NM_018947.5(CYCS):c.*3282delA http://identifiers.org/clinvar/359943 ^@ NM_005522.4(HOXA1):c.*1345T>C http://identifiers.org/clinvar/359993 ^@ NM_002047.3(GARS):c.-217A>G http://identifiers.org/clinvar/360093 ^@ NM_133468.4(BMPER):c.-141+9T>A http://identifiers.org/clinvar/360193 ^@ NM_000168.5(GLI3):c.*1239T>A http://identifiers.org/clinvar/360293 ^@ NM_000162.3(GCK):c.*477C>T http://identifiers.org/clinvar/360543 ^@ NM_000535.6(PMS2):c.1359G>A (p.Met453Ile) http://identifiers.org/clinvar/357754 ^@ NM_001142800.1(EYS):c.-272T>C http://identifiers.org/clinvar/357804 ^@ NM_001851.4(COL9A1):c.1992T>G (p.Gly664=) http://identifiers.org/clinvar/357904 ^@ NM_012434.4(SLC17A5):c.*1450G>A http://identifiers.org/clinvar/357954 ^@ NM_004415.3(DSP):c.4857G>C (p.Leu1619=) http://identifiers.org/clinvar/358004 ^@ NM_004999.3(MYO6):c.*362A>G http://identifiers.org/clinvar/358154 ^@ NM_022726.3(ELOVL4):c.-163C>A http://identifiers.org/clinvar/364431 ^@ NM_005502.3(ABCA1):c.2320A>C (p.Thr774Pro) http://identifiers.org/clinvar/364581 ^@ NM_003640.4(IKBKAP):c.209G>A (p.Arg70His) http://identifiers.org/clinvar/364681 ^@ NM_015404.3(WHRN):c.2261C>T (p.Ser754Leu) http://identifiers.org/clinvar/364481 ^@ NM_005502.3(ABCA1):c.-327C>T http://identifiers.org/clinvar/364631 ^@ NM_000031.5(ALAD):c.*613G>A http://identifiers.org/clinvar/364981 ^@ NM_002316.3(LMX1B):c.*3805G>A http://identifiers.org/clinvar/364731 ^@ NM_012210.3(TRIM32):c.*737T>C http://identifiers.org/clinvar/301034 ^@ NM_007055.3(POLR3A):c.4002C>T (p.Phe1334=) http://identifiers.org/clinvar/365031 ^@ NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) http://identifiers.org/clinvar/308038 ^@ NM_005691.3(ABCC9):c.1992C>T (p.Pro664=) http://identifiers.org/clinvar/365131 ^@ NM_001003722.1(GLE1):c.54C>G (p.Asp18Glu) http://identifiers.org/clinvar/308088 ^@ NM_004985.4(KRAS):c.*2325G>A http://identifiers.org/clinvar/301184 ^@ NM_000429.2(MAT1A):c.*67C>T http://identifiers.org/clinvar/308238 ^@ NM_000719.6(CACNA1C):c.*4318G>A http://identifiers.org/clinvar/308788 ^@ NM_020638.2(FGF23):c.*553C>A http://identifiers.org/clinvar/365631 ^@ NM_000787.3(DBH):c.235C>T (p.Arg79Trp) http://identifiers.org/clinvar/301634 ^@ NM_006204.3(PDE6C):c.1580G>A (p.Arg527Gln) http://identifiers.org/clinvar/365331 ^@ NM_015046.5(SETX):c.*548A>T http://identifiers.org/clinvar/365431 ^@ NM_000368.4(TSC1):c.*2904G>T http://identifiers.org/clinvar/301834 ^@ NM_001002261.3(ZFYVE27):c.516C>T (p.Arg172=) http://identifiers.org/clinvar/302034 ^@ NM_001080463.1(DYNC2H1):c.4127+10A>G http://identifiers.org/clinvar/302084 ^@ NM_001080463.1(DYNC2H1):c.9960T>C (p.Ala3320=) http://identifiers.org/clinvar/302134 ^@ NM_001080463.1(DYNC2H1):c.*293A>G http://identifiers.org/clinvar/302234 ^@ NM_000051.3(ATM):c.-274G>A http://identifiers.org/clinvar/310932 ^@ NM_000123.3(ERCC5):c.2320-15C>T http://identifiers.org/clinvar/321956 ^@ NM_017775.3(TTC19):c.*437delC http://identifiers.org/clinvar/312621 ^@ NM_001376.4(DYNC1H1):c.1861G>A (p.Asp621Asn) http://identifiers.org/clinvar/312721 ^@ NM_022489.3(INF2):c.*536G>T http://identifiers.org/clinvar/314510 ^@ NM_013382.5(POMT2):c.*2151A>G http://identifiers.org/clinvar/313021 ^@ NM_025152.2(NUBPL):c.199A>G (p.Lys67Glu) http://identifiers.org/clinvar/322645 ^@ NM_000286.2(PEX12):c.*517A>G http://identifiers.org/clinvar/313421 ^@ NM_172337.2(OTX2):c.246G>T (p.Val82=) http://identifiers.org/clinvar/315310 ^@ NM_139057.3(ADAMTS17):c.777C>T (p.Thr259=) http://identifiers.org/clinvar/315410 ^@ NM_144599.4(NIPA1):c.*972C>T http://identifiers.org/clinvar/315360 ^@ NM_144599.4(NIPA1):c.*3400C>T http://identifiers.org/clinvar/323095 ^@ NM_002274.3(KRT13):c.610G>A (p.Val204Met) http://identifiers.org/clinvar/323395 ^@ NM_000151.3(G6PC):c.*2088A>T http://identifiers.org/clinvar/323545 ^@ NM_000419.4(ITGA2B):c.2511G>C (p.Gln837His) http://identifiers.org/clinvar/323595 ^@ NM_002055.4(GFAP):c.*1550C>A http://identifiers.org/clinvar/315860 ^@ NM_144508.4(KNL1):c.4000C>T (p.Pro1334Ser) http://identifiers.org/clinvar/323645 ^@ NM_005910.5(MAPT):c.454G>A (p.Ala152Thr) http://identifiers.org/clinvar/316110 ^@ NM_025137.3(SPG11):c.993C>T (p.Ser331=) http://identifiers.org/clinvar/368460 ^@ NM_003179.2(SYP):c.*814A>G http://identifiers.org/clinvar/368510 ^@ NM_000084.4(CLCN5):c.*2980A>G http://identifiers.org/clinvar/368560 ^@ NM_006306.3(SMC1A):c.*3777C>G http://identifiers.org/clinvar/324354 ^@ NM_032043.2(BRIP1):c.-205G>A http://identifiers.org/clinvar/316899 ^@ NM_005902.3(SMAD3):c.*1325T>C http://identifiers.org/clinvar/317049 ^@ NM_000520.5(HEXA):c.-4G>A http://identifiers.org/clinvar/314960 ^@ NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) http://identifiers.org/clinvar/315060 ^@ NM_177438.2(DICER1):c.*2826C>T http://identifiers.org/clinvar/317299 ^@ NM_001113378.1(FANCI):c.3816+15A>T http://identifiers.org/clinvar/315710 ^@ NM_005159.4(ACTC1):c.809-16_809-13dupTGTG http://identifiers.org/clinvar/315260 ^@ NM_139057.3(ADAMTS17):c.2731G>C (p.Ala911Pro) http://identifiers.org/clinvar/315810 ^@ NM_002225.3(IVD):c.*387delT http://identifiers.org/clinvar/315910 ^@ NM_138477.2(CDAN1):c.*600A>G http://identifiers.org/clinvar/316160 ^@ NM_014080.4(DUOX2):c.3005+13C>T http://identifiers.org/clinvar/316210 ^@ NM_001482.2(GATM):c.1159+14A>G http://identifiers.org/clinvar/372065 ^@ NM_006231.3(POLE):c.5811+13C>T http://identifiers.org/clinvar/371865 ^@ NM_007294.3(BRCA1):c.4358-2735A>G http://identifiers.org/clinvar/371815 ^@ NM_007294.3(BRCA1):c.-20+59G>T http://identifiers.org/clinvar/371965 ^@ NM_001256849.1(POLD1):c.1776-18C>T http://identifiers.org/clinvar/371915 ^@ NM_001256849.1(POLD1):c.3218+9_3218+10delCAinsTG http://identifiers.org/clinvar/372115 ^@ NM_032667.6(BSCL2):c.154_155dupTT (p.Tyr53Serfs) http://identifiers.org/clinvar/372189 ^@ NM_004984.2(KIF5A):c.2921delC (p.Cys975Valfs) http://identifiers.org/clinvar/372245 ^@ NM_153461.3(IL17RC):c.1132C>T (p.Arg378Ter) http://identifiers.org/clinvar/373560 ^@ NM_032588.3(TRIM63):c.206C>T (p.Ser69Phe) http://identifiers.org/clinvar/372351 ^@ NM_000098.2(CPT2):c.852delC (p.Glu285Serfs) http://identifiers.org/clinvar/373660 ^@ NM_000090.3(COL3A1):c.3824-14T>G http://identifiers.org/clinvar/372816 ^@ NM_015560.2(OPA1):c.1024A>G (p.Lys342Glu) http://identifiers.org/clinvar/373610 ^@ NM_001135659.2(NRXN1):c.904A>T (p.Met302Leu) http://identifiers.org/clinvar/373710 ^@ NM_000258.2(MYL3):c.435T>A (p.Asn145Lys) http://identifiers.org/clinvar/372663 ^@ NM_001182.4(ALDH7A1):c.34delG (p.Ala12Leufs) http://identifiers.org/clinvar/372509 ^@ NM_020427.2(SLURP1):c.240_246delCGACCCCinsAG (p.Asp81Glyfs) http://identifiers.org/clinvar/372715 ^@ NM_007103.3(NDUFV1):c.166T>C (p.Ser56Pro) http://identifiers.org/clinvar/373760 ^@ NM_006493.2(CLN5):c.571G>C (p.Gly191Arg) http://identifiers.org/clinvar/372561 ^@ NM_006009.3(TUBA1A):c.652G>A (p.Asp218Asn) http://identifiers.org/clinvar/372611 ^@ NM_004985.4(KRAS):c.451-5588T>C http://identifiers.org/clinvar/373810 ^@ NM_019109.4(ALG1):c.69delG (p.Trp23Terfs) http://identifiers.org/clinvar/373510 ^@ NM_000540.2(RYR1):c.4682T>A (p.Ile1561Asn) http://identifiers.org/clinvar/372300 ^@ NM_000383.3(AIRE):c.823delC (p.Gln275Serfs) http://identifiers.org/clinvar/372765 ^@ NM_001399.4(EDA):c.245delG (p.Gly82Alafs) http://identifiers.org/clinvar/372456 ^@ NM_000444.5(PHEX):c.1046dupA (p.Asp349Glufs) http://identifiers.org/clinvar/373860 ^@ NG_005905.2:g.(102259_111450)_(172307_?)del http://identifiers.org/clinvar/374063 ^@ NM_015074.3(KIF1B):c.4387C>T (p.Arg1463Cys) http://identifiers.org/clinvar/373963 ^@ NM_005270.4(GLI2):c.254G>C (p.Gly85Ala) http://identifiers.org/clinvar/374163 ^@ NM_017890.4(VPS13B):c.4620delA (p.Ser1541Profs) http://identifiers.org/clinvar/374113 ^@ NM_001077488.3(GNAS):c.85C>T (p.Gln29Ter) http://identifiers.org/clinvar/374013 ^@ NM_001429.3(EP300):c.1619A>G (p.Gln540Arg) http://identifiers.org/clinvar/373913 ^@ NM_004208.3(AIFM1):c.1646C>T (p.Ala549Val) http://identifiers.org/clinvar/374213 ^@ NM_000255.3(MUT):c.284C>T (p.Pro95Leu) http://identifiers.org/clinvar/374267 ^@ NM_005270.4(GLI2):c.4654A>T (p.Thr1552Ser) http://identifiers.org/clinvar/374402 ^@ NM_015107.2(PHF8):c.377delT (p.Leu126Argfs) http://identifiers.org/clinvar/374337 ^@ NM_000489.4(ATRX):c.569C>T (p.Pro190Leu) http://identifiers.org/clinvar/374455 ^@ NM_001242897.1(DEPDC5):c.1474C>T (p.Arg492Ter) http://identifiers.org/clinvar/374505 ^@ NM_000520.5(HEXA):c.459+5G>A http://identifiers.org/clinvar/374555 ^@ NM_001999.3(FBN2):c.5984G>C (p.Gly1995Ala) http://identifiers.org/clinvar/374605 ^@ NM_016204.3(GDF2):c.1290G>A (p.Ter430=) http://identifiers.org/clinvar/374655 ^@ NM_006037.3(HDAC4):c.1554G>A (p.Pro518=) http://identifiers.org/clinvar/374705 ^@ NM_000481.3(AMT):c.13G>T (p.Val5Leu) http://identifiers.org/clinvar/374755 ^@ NM_006012.2(CLPP):c.598A>G (p.Lys200Glu) http://identifiers.org/clinvar/374815 ^@ NM_000141.4(FGFR2):c.1007A>G (p.Asp336Gly) http://identifiers.org/clinvar/374865 ^@ NM_033068.2(ACPT):c.382G>C (p.Ala128Pro) http://identifiers.org/clinvar/382719 ^@ NM_133259.3(LRPPRC):c.3984T>C (p.Tyr1328=) http://identifiers.org/clinvar/387111 ^@ NM_000179.2(MSH6):c.458-13C>A http://identifiers.org/clinvar/383270 ^@ NM_198056.2(SCN5A):c.873C>T (p.Asn291=) http://identifiers.org/clinvar/388650 ^@ NM_014946.3(SPAST):c.171G>C (p.Leu57=) http://identifiers.org/clinvar/382769 ^@ NM_004393.5(DAG1):c.-130C>T http://identifiers.org/clinvar/386411 ^@ NM_000251.2(MSH2):c.645+11T>G http://identifiers.org/clinvar/389150 ^@ NM_198056.2(SCN5A):c.4913G>C (p.Arg1638Pro) http://identifiers.org/clinvar/391439 ^@ NM_006514.3(SCN10A):c.5834A>G (p.Glu1945Gly) http://identifiers.org/clinvar/389550 ^@ NM_006514.3(SCN10A):c.3229-20C>T http://identifiers.org/clinvar/389850 ^@ NM_005051.2(QARS):c.-21T>C http://identifiers.org/clinvar/380776 ^@ NM_183075.2(CYP2U1):c.-37G>A http://identifiers.org/clinvar/377464 ^@ NM_001182.4(ALDH7A1):c.1305C>G (p.Val435=) http://identifiers.org/clinvar/386911 ^@ NM_000038.5(APC):c.1687T>C (p.Leu563=) http://identifiers.org/clinvar/388850 ^@ NM_001999.3(FBN2):c.6757+3A>G http://identifiers.org/clinvar/386161 ^@ NM_021911.2(GABRB2):c.1173C>T (p.Tyr391=) http://identifiers.org/clinvar/389200 ^@ NM_004553.4(NDUFS6):c.-23-23A>G http://identifiers.org/clinvar/391289 ^@ NM_000816.3(GABRG2):c.99C>T (p.Leu33=) http://identifiers.org/clinvar/388750 ^@ NM_032380.4(GFM2):c.850-18T>A http://identifiers.org/clinvar/384622 ^@ NM_018341.2(ERMARD):c.1014T>C (p.Asp338=) http://identifiers.org/clinvar/390989 ^@ NM_000445.4(PLEC):c.2385+12G>A http://identifiers.org/clinvar/383420 ^@ NM_024531.4(SLC52A2):c.-44C>T http://identifiers.org/clinvar/380876 ^@ NM_152415.2(VPS37A):c.1053C>T (p.Asp351=) http://identifiers.org/clinvar/386011 ^@ NM_000535.6(PMS2):c.2175-13T>C http://identifiers.org/clinvar/388900 ^@ NM_000535.6(PMS2):c.1005T>C (p.Asn335=) http://identifiers.org/clinvar/380675 ^@ NM_017866.5(TMEM70):c.97C>A (p.Arg33=) http://identifiers.org/clinvar/377714 ^@ NM_014141.5(CNTNAP2):c.3903G>A (p.Ala1301=) http://identifiers.org/clinvar/389750 ^@ NM_002485.4(NBN):c.2187A>G (p.Val729=) http://identifiers.org/clinvar/383019 ^@ NM_000035.3(ALDOB):c.*19C>T http://identifiers.org/clinvar/388600 ^@ NM_000445.4(PLEC):c.9597G>A (p.Ser3199=) http://identifiers.org/clinvar/388150 ^@ NM_001101.3(ACTB):c.306C>A (p.Pro102=) http://identifiers.org/clinvar/386461 ^@ NM_000445.4(PLEC):c.8025C>T (p.Gly2675=) http://identifiers.org/clinvar/377664 ^@ NM_000742.3(CHRNA2):c.210C>T (p.Tyr70=) http://identifiers.org/clinvar/380826 ^@ NM_014846.3(WASHC5):c.979-20C>T http://identifiers.org/clinvar/390539 ^@ NM_020822.2(KCNT1):c.1788C>T (p.Ile596=) http://identifiers.org/clinvar/383119 ^@ NM_000445.4(PLEC):c.907-19C>T http://identifiers.org/clinvar/384421 ^@ NM_000093.4(COL5A1):c.1794C>G (p.Gly598=) http://identifiers.org/clinvar/384371 ^@ NM_020822.2(KCNT1):c.855-10G>A http://identifiers.org/clinvar/383871 ^@ NM_004408.3(DNM1):c.1764C>T (p.Leu588=) http://identifiers.org/clinvar/133153 ^@ NM_000540.2(RYR1):c.5938delC (p.Leu1980Serfs) http://identifiers.org/clinvar/133203 ^@ NM_000540.2(RYR1):c.742G>C (p.Gly248Arg) http://identifiers.org/clinvar/133279 ^@ NM_001005862.2(ERBB2):c.2445C>T (p.Asp815=) http://identifiers.org/clinvar/133345 ^@ NM_001136271.2(NKX2-6):c.453_454insT (p.Lys152Terfs) http://identifiers.org/clinvar/133395 ^@ NM_003820.3(TNFRSF14):c.304+606C>G http://identifiers.org/clinvar/133445 ^@ NM_007313.2(ABL1):c.2173G>A (p.Gly725Ser) http://identifiers.org/clinvar/133495 ^@ NM_152424.3(AMER1):c.185G>T (p.Gly62Val) http://identifiers.org/clinvar/133546 ^@ NM_015071.5(ARHGAP26):c.2168A>G (p.His723Arg) http://identifiers.org/clinvar/133596 ^@ NM_015338.5(ASXL1):c.3503G>C (p.Ser1168Thr) http://identifiers.org/clinvar/133646 ^@ NM_000489.4(ATRX):c.5167delAinsGAAGGC (p.Ile1723Glufs) http://identifiers.org/clinvar/133696 ^@ NM_001123383.1(BCOR):c.3912A>C (p.Glu1304Asp) http://identifiers.org/clinvar/133750 ^@ NM_032043.2(BRIP1):c.2012A>G (p.Glu671Gly) http://identifiers.org/clinvar/133800 ^@ NM_032415.5(CARD11):c.3059C>T (p.Thr1020Met) http://identifiers.org/clinvar/133850 ^@ NM_004360.4(CDH1):c.113C>T (p.Thr38Met) http://identifiers.org/clinvar/133900 ^@ NM_015125.4(CIC):c.2677C>T (p.Pro893Ser) http://identifiers.org/clinvar/133950 ^@ NM_022148.3(CRLF2):c.730G>A (p.Val244Met) http://identifiers.org/clinvar/134000 ^@ NM_001077706.2(ECT2L):c.2227C>T (p.Gln743Ter) http://identifiers.org/clinvar/134052 ^@ NM_001429.3(EP300):c.6289C>G (p.Pro2097Ala) http://identifiers.org/clinvar/134102 ^@ NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) http://identifiers.org/clinvar/134152 ^@ NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) http://identifiers.org/clinvar/134202 ^@ NM_000127.2(EXT1):c.1457C>T (p.Ala486Val) http://identifiers.org/clinvar/134252 ^@ NM_000135.2(FANCA):c.2151G>T (p.Met717Ile) http://identifiers.org/clinvar/134303 ^@ NM_000136.2(FANCC):c.383A>G (p.Asp128Gly) http://identifiers.org/clinvar/134354 ^@ NM_022725.3(FANCF):c.373G>A (p.Asp125Asn) http://identifiers.org/clinvar/134404 ^@ NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) http://identifiers.org/clinvar/136193 ^@ NM_130838.1(UBE3A):c.362_363delAG (p.Glu121Glyfs) http://identifiers.org/clinvar/136244 ^@ NM_004299.4(ABCB7):c.948-7C>T http://identifiers.org/clinvar/136295 ^@ NM_020247.4(COQ8A):c.67G>A (p.Val23Met) http://identifiers.org/clinvar/136346 ^@ NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) http://identifiers.org/clinvar/136397 ^@ NM_001148.4(ANK2):c.11673T>C (p.His3891=) http://identifiers.org/clinvar/187387 ^@ NM_001042492.2(NF1):c.7368A>T (p.Lys2456Asn) http://identifiers.org/clinvar/186687 ^@ NM_002878.3(RAD51D):c.944G>A (p.Gly315Glu) http://identifiers.org/clinvar/184496 ^@ NM_002878.3(RAD51D):c.198G>T (p.Val66=) http://identifiers.org/clinvar/187487 ^@ NM_058216.2(RAD51C):c.1055C>A (p.Thr352Asn) http://identifiers.org/clinvar/186335 ^@ NM_032043.2(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002Leufs) http://identifiers.org/clinvar/184796 ^@ NM_032043.2(BRIP1):c.1552G>A (p.Val518Ile) http://identifiers.org/clinvar/183895 ^@ NM_032043.2(BRIP1):c.702G>A (p.Lys234=) http://identifiers.org/clinvar/184446 ^@ NM_032043.2(BRIP1):c.101G>C (p.Arg34Thr) http://identifiers.org/clinvar/186887 ^@ NM_000546.5(TP53):c.1078G>A (p.Gly360Arg) http://identifiers.org/clinvar/186737 ^@ NM_000546.5(TP53):c.736A>C (p.Met246Leu) http://identifiers.org/clinvar/183945 ^@ NM_000546.5(TP53):c.468C>T (p.Arg156=) http://identifiers.org/clinvar/185346 ^@ NM_000455.4(STK11):c.318G>A (p.Arg106=) http://identifiers.org/clinvar/184046 ^@ NM_000455.4(STK11):c.1180G>A (p.Gly394Ser) http://identifiers.org/clinvar/184646 ^@ NM_000455.4(STK11):c.1193C>T (p.Ala398Val) http://identifiers.org/clinvar/188579 ^@ NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) http://identifiers.org/clinvar/188529 ^@ NM_000256.3(MYBPC3):c.654+18G>A http://identifiers.org/clinvar/188429 ^@ NM_000059.3(BRCA2):c.5173G>A (p.Ala1725Thr) http://identifiers.org/clinvar/188629 ^@ NM_000257.3(MYH7):c.3853+21C>T http://identifiers.org/clinvar/188479 ^@ NM_000152.4(GAA):c.1069G>T (p.Val357Phe) http://identifiers.org/clinvar/189031 ^@ NM_019098.4(CNGB3):c.1578+1G>A http://identifiers.org/clinvar/188779 ^@ NM_000035.3(ALDOB):c.324G>A (p.Lys108=) http://identifiers.org/clinvar/188930 ^@ NM_000053.3(ATP7B):c.813C>A (p.Cys271Ter) http://identifiers.org/clinvar/188880 ^@ NM_000152.4(GAA):c.766_785del20insC (p.Tyr256Argfs) http://identifiers.org/clinvar/189181 ^@ NM_000271.4(NPC1):c.1947+2T>G http://identifiers.org/clinvar/189081 ^@ NM_000071.2(CBS):c.1358+1G>A http://identifiers.org/clinvar/188829 ^@ NM_000071.2(CBS):c.689delT (p.Leu230Argfs) http://identifiers.org/clinvar/188980 ^@ NM_015166.3(MLC1):c.714+1G>A http://identifiers.org/clinvar/189131 ^@ NM_000500.7:c.*28697972C>G http://identifiers.org/clinvar/189248 ^@ NM_019026.4(TMCO1):c.240_243delGGTT (p.Val81Thrfs) http://identifiers.org/clinvar/189300 ^@ NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) http://identifiers.org/clinvar/189521 ^@ NM_000314.6(PTEN):c.-1210C>T http://identifiers.org/clinvar/189449 ^@ NM_000314.6(PTEN):c.585delT (p.His196Thrfs) http://identifiers.org/clinvar/189621 ^@ NM_005249.4(FOXG1):c.788_792delACGTG (p.Asp263Valfs) http://identifiers.org/clinvar/189671 ^@ NM_004992.3(MECP2):c.1276_*113del299ins3 http://identifiers.org/clinvar/189721 ^@ NM_004992.3(MECP2):c.785_818del34 (p.Gln262Argfs) http://identifiers.org/clinvar/189771 ^@ NM_001110792.1(MECP2):c.48_55delCGAGGAGG (p.Glu18Thrfs) http://identifiers.org/clinvar/189571 ^@ NM_003159.2(CDKL5):c.2277-2A>G http://identifiers.org/clinvar/189855 ^@ NM_001165963.1(SCN1A):c.3726_3727insAT (p.Asp1243Metfs) http://identifiers.org/clinvar/190190 ^@ NM_001110556.1(FLNA):c.3875_3888dupACGTCAAGGCCCGT (p.Val1297Thrfs) http://identifiers.org/clinvar/190241 ^@ NM_001987.4(ETV6):c.1046T>C (p.Leu349Pro) http://identifiers.org/clinvar/190324 ^@ NM_001957.3(EDNRA):c.907G>A (p.Glu303Lys) http://identifiers.org/clinvar/190377 ^@ NM_019105.6(TNXB):c.12524G>A (p.Ser4175Asn) http://identifiers.org/clinvar/190464 ^@ NM_000181.3(GUSB):c.1586A>G (p.Tyr529Cys) http://identifiers.org/clinvar/227556 ^@ NM_001018116.2(CAVIN4):c.1005C>T (p.Pro335=) http://identifiers.org/clinvar/228407 ^@ NM_138691.2(TMC1):c.1677G>A (p.Trp559Ter) http://identifiers.org/clinvar/229196 ^@ NM_001134363.2(RBM20):c.3574-6C>G http://identifiers.org/clinvar/229246 ^@ NM_005411.4(SFTPA1):c.677A>G (p.Glu226Gly) http://identifiers.org/clinvar/229296 ^@ NM_005422.2(TECTA):c.2657A>G (p.Asn886Ser) http://identifiers.org/clinvar/229096 ^@ NM_001277269.1(OTOG):c.4856C>T (p.Ser1619Leu) http://identifiers.org/clinvar/227806 ^@ NM_001277269.1(OTOG):c.8204T>C (p.Leu2735Pro) http://identifiers.org/clinvar/229146 ^@ NM_004572.3(PKP2):c.409G>A (p.Glu137Lys) http://identifiers.org/clinvar/227656 ^@ NM_005379.3(MYO1A):c.2141G>A (p.Arg714His) http://identifiers.org/clinvar/227706 ^@ NM_003803.3(MYOM1):c.5045dupA (p.Lys1683Glufs) http://identifiers.org/clinvar/229596 ^@ NM_000371.3(TTR):c.337-3T>C http://identifiers.org/clinvar/228357 ^@ NM_000527.4(LDLR):c.1428dupC (p.Asp477Argfs) http://identifiers.org/clinvar/227606 ^@ NM_002473.5(MYH9):c.3214G>A (p.Ala1072Thr) http://identifiers.org/clinvar/228257 ^@ NM_001399.4(EDA):c.866G>A (p.Arg289His) http://identifiers.org/clinvar/234764 ^@ NM_000530.7(MPZ):c.731G>T (p.Arg244Leu) http://identifiers.org/clinvar/234290 ^@ NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) http://identifiers.org/clinvar/234564 ^@ NM_000179.2(MSH6):c.732A>G (p.Gln244=) http://identifiers.org/clinvar/234915 ^@ NM_000179.2(MSH6):c.836G>A (p.Ser279Asn) http://identifiers.org/clinvar/234462 ^@ NM_000179.2(MSH6):c.3450A>C (p.Leu1150Phe) http://identifiers.org/clinvar/234513 ^@ NM_000249.3(MLH1):c.1029delC (p.Phe344Serfs) http://identifiers.org/clinvar/234814 ^@ NM_000535.6(PMS2):c.328G>T (p.Ala110Ser) http://identifiers.org/clinvar/234410 ^@ NM_000314.6(PTEN):c.76A>C (p.Thr26Pro) http://identifiers.org/clinvar/234714 ^@ NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) http://identifiers.org/clinvar/234614 ^@ NM_000059.3(BRCA2):c.6559C>T (p.Pro2187Ser) http://identifiers.org/clinvar/232888 ^@ NM_000059.3(BRCA2):c.9589G>C (p.Asp3197His) http://identifiers.org/clinvar/234865 ^@ NM_004360.4(CDH1):c.907A>G (p.Thr303Ala) http://identifiers.org/clinvar/234342 ^@ NM_014646.2(LPIN2):c.2409G>C (p.Gln803His) http://identifiers.org/clinvar/234664 ^@ NM_139058.2(ARX):c.665_670dupGCACCG (p.Thr223_Glu224insGlyThr) http://identifiers.org/clinvar/234080 ^@ NM_001128425.1(MUTYH):c.1324-1G>T http://identifiers.org/clinvar/234180 ^@ NM_001128425.1(MUTYH):c.389-4C>A http://identifiers.org/clinvar/232988 ^@ NM_000465.3(BARD1):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/232387 ^@ NM_000251.2(MSH2):c.-68-221C>A http://identifiers.org/clinvar/230198 ^@ NM_000251.2(MSH2):c.525G>T (p.Leu175=) http://identifiers.org/clinvar/230048 ^@ NM_000251.2(MSH2):c.1377T>C (p.Asp459=) http://identifiers.org/clinvar/232287 ^@ NM_000179.2(MSH6):c.150G>C (p.Trp50Cys) http://identifiers.org/clinvar/230148 ^@ NM_000249.3(MLH1):c.2127A>G (p.Pro709=) http://identifiers.org/clinvar/264429 ^@ NM_005902.3(SMAD3):c.333C>T (p.Phe111=) http://identifiers.org/clinvar/264379 ^@ NM_005902.3(SMAD3):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/263623 ^@ NM_003098.2(SNTA1):c.566C>T (p.Ser189Leu) http://identifiers.org/clinvar/264479 ^@ NM_020433.4(JPH2):c.1987G>C (p.Glu663Gln) http://identifiers.org/clinvar/263370 ^@ NM_006440.4(TXNRD2):c.177C>T (p.Ala59=) http://identifiers.org/clinvar/264223 ^@ NM_004006.2(DMD):c.5048C>G (p.Thr1683Ser) http://identifiers.org/clinvar/264687 ^@ NM_004082.4(DCTN1):c.200G>A (p.Gly67Asp) http://identifiers.org/clinvar/264744 ^@ NM_001242896.1(DEPDC5):c.4187delC (p.Ala1396GlufsTer21) http://identifiers.org/clinvar/264899 ^@ NM_000059.3(BRCA2):c.7008-1387_7008-1386insA http://identifiers.org/clinvar/264949 ^@ NM_000059.3(BRCA2):c.8633-553_8633-549del http://identifiers.org/clinvar/264799 ^@ NM_007294.3(BRCA1):c.5406+296G>A http://identifiers.org/clinvar/264849 ^@ NM_007294.3(BRCA1):c.4357+259A>G http://identifiers.org/clinvar/265610 ^@ NM_020699.3(GATAD2B):c.1432C>T (p.Arg478Ter) http://identifiers.org/clinvar/265001 ^@ NM_173076.2(ABCA12):c.2140C>T (p.Arg714Ter) http://identifiers.org/clinvar/265560 ^@ NM_000038.5(APC):c.1958+3A>T http://identifiers.org/clinvar/265409 ^@ NM_133433.3(NIPBL):c.6156G>C (p.Glu2052Asp) http://identifiers.org/clinvar/265309 ^@ NM_017651.4(AHI1):c.2493-2A>G http://identifiers.org/clinvar/265104 ^@ NM_004415.3(DSP):c.2799G>C (p.Leu933Phe) http://identifiers.org/clinvar/265359 ^@ NM_203447.3(DOCK8):c.54-1G>T http://identifiers.org/clinvar/265054 ^@ NM_000059.3(BRCA2):c.2363G>A (p.Gly788Asp) http://identifiers.org/clinvar/265660 ^@ NM_001271.3(CHD2):c.693-2A>T http://identifiers.org/clinvar/265154 ^@ NM_144997.5(FLCN):c.1062+2T>G http://identifiers.org/clinvar/265459 ^@ NM_000382.2(ALDH3A2):c.733G>A (p.Asp245Asn) http://identifiers.org/clinvar/265509 ^@ NM_007294.3(BRCA1):c.-20G>A http://identifiers.org/clinvar/265258 ^@ NM_000199.3(SGSH):c.877C>T (p.Pro293Ser) http://identifiers.org/clinvar/265205 ^@ NM_000215.3(JAK3):c.1765G>A (p.Gly589Ser) http://identifiers.org/clinvar/266720 ^@ NM_000059.3(BRCA2):c.2764_2777delTTCAAGAACTCTAC (p.Phe922Hisfs) http://identifiers.org/clinvar/266770 ^@ NM_000059.3(BRCA2):c.3739delA (p.Ile1247Leufs) http://identifiers.org/clinvar/267120 ^@ NM_000059.3(BRCA2):c.8941delG (p.Glu2981Lysfs) http://identifiers.org/clinvar/267170 ^@ NM_000059.3(BRCA2):c.9739C>T (p.Gln3247Ter) http://identifiers.org/clinvar/267240 ^@ NM_015247.2(CYLD):c.1771A>T (p.Lys591Ter) http://identifiers.org/clinvar/267310 ^@ NM_004937.2(CTNS):c.922G>A (p.Gly308Arg) http://identifiers.org/clinvar/267388 ^@ c.3894dupT http://identifiers.org/clinvar/267441 ^@ NM_017780.3(CHD7):c.8730_8731delTC (p.Pro2911Argfs) http://identifiers.org/clinvar/267677 ^@ NG_012772.3:g.44712_44713ins4 http://identifiers.org/clinvar/267527 ^@ NM_007294.3(BRCA1):c.4186-?_4484+?del http://identifiers.org/clinvar/267577 ^@ NM_007294.3(BRCA1):c.5152+2T>A http://identifiers.org/clinvar/267627 ^@ NM_007294.3(BRCA1):c.81-1588_134+1725del http://identifiers.org/clinvar/267727 ^@ NM_007294.3(BRCA1):c.134+3_134+4insT http://identifiers.org/clinvar/267806 ^@ 46;XX;ins(1;2)(p34.2;q22q24)dn http://identifiers.org/clinvar/267857 ^@ 46;XX;inv(5)(q14q35)dn http://identifiers.org/clinvar/267907 ^@ 46;XY;t(14;15)(q32.1;q15)dn http://identifiers.org/clinvar/267957 ^@ 46;XX;t(5;15)(q15;q26.3)dn http://identifiers.org/clinvar/268007 ^@ 46;XX;t(5;17)(p15.31~32;q25.3)dn http://identifiers.org/clinvar/268060 ^@ NC_000005.9:g.(?_53316271)_(53815560_?)dup http://identifiers.org/clinvar/268123 ^@ NM_018263.5(ASXL2):c.2081dupG (p.Gly696Argfs) http://identifiers.org/clinvar/268191 ^@ NC_000005.9:g.(?_12614302)_(12734149_?)dup http://identifiers.org/clinvar/291515 ^@ NM_001854.3(COL11A1):c.3473T>C (p.Val1158Ala) http://identifiers.org/clinvar/291565 ^@ NM_015074.3(KIF1B):c.2991+11G>T http://identifiers.org/clinvar/293917 ^@ NM_002065.6(GLUL):c.*1276C>T http://identifiers.org/clinvar/294017 ^@ NM_005562.2(LAMC2):c.3246G>A (p.Gln1082=) http://identifiers.org/clinvar/294067 ^@ NM_000433.3(NCF2):c.*397_*398insTCA http://identifiers.org/clinvar/294167 ^@ NM_031935.2(HMCN1):c.5922G>C (p.Gln1974His) http://identifiers.org/clinvar/294217 ^@ NM_031935.2(HMCN1):c.9929T>C (p.Leu3310Pro) http://identifiers.org/clinvar/294467 ^@ NM_024529.4(CDC73):c.*3714T>C http://identifiers.org/clinvar/294517 ^@ NM_000186.3(CFH):c.3133+8G>T http://identifiers.org/clinvar/294717 ^@ NM_000069.2(CACNA1S):c.4441+3G>A http://identifiers.org/clinvar/293817 ^@ NM_003000.2(SDHB):c.-37T>C http://identifiers.org/clinvar/294767 ^@ NM_000069.2(CACNA1S):c.1352C>T (p.Ser451Leu) http://identifiers.org/clinvar/293867 ^@ NM_033343.3(LHX4):c.774C>T (p.Phe258=) http://identifiers.org/clinvar/293967 ^@ NM_002065.6(GLUL):c.-564C>A http://identifiers.org/clinvar/336419 ^@ NM_002354.2(EPCAM):c.*246G>T http://identifiers.org/clinvar/336469 ^@ NM_000233.3(LHCGR):c.337T>A (p.Tyr113Asn) http://identifiers.org/clinvar/336212 ^@ NM_000341.3(SLC3A1):c.1810C>T (p.Leu604=) http://identifiers.org/clinvar/336619 ^@ NM_001039348.2(EFEMP1):c.*152G>A http://identifiers.org/clinvar/336312 ^@ NM_001430.4(EPAS1):c.*1275C>A http://identifiers.org/clinvar/336362 ^@ NM_139279.5(MCFD2):c.*1111G>C http://identifiers.org/clinvar/344898 ^@ NM_006371.4(CRTAP):c.*5077A>G http://identifiers.org/clinvar/344948 ^@ NM_001106.3(ACVR2B):c.*1574_*1579delGAGAAA http://identifiers.org/clinvar/345148 ^@ NM_017875.2(SLC25A38):c.446C>T (p.Thr149Met) http://identifiers.org/clinvar/336519 ^@ NM_001135659.2(NRXN1):c.*1245_*1246dupAC http://identifiers.org/clinvar/336919 ^@ NM_001692.3(ATP6V1B1):c.875C>T (p.Thr292Met) http://identifiers.org/clinvar/345248 ^@ NM_016006.4(ABHD5):c.*1757A>G http://identifiers.org/clinvar/336769 ^@ NM_015910.5(WDPCP):c.208+11T>C http://identifiers.org/clinvar/337119 ^@ NM_013247.4(HTRA2):c.-363G>A http://identifiers.org/clinvar/345698 ^@ NM_015175.2(NBEAL2):c.*151dupA http://identifiers.org/clinvar/337269 ^@ NM_000821.6(GGCX):c.849G>C (p.Val283=) http://identifiers.org/clinvar/337069 ^@ NM_004082.4(DCTN1):c.3610-14C>T http://identifiers.org/clinvar/337319 ^@ NM_003896.3(ST3GAL5):c.*944C>T http://identifiers.org/clinvar/337169 ^@ NM_003849.3(SUCLG1):c.-150T>A http://identifiers.org/clinvar/337219 ^@ NM_000821.6(GGCX):c.*2299C>T http://identifiers.org/clinvar/337569 ^@ NM_014014.4(SNRNP200):c.46-7T>C http://identifiers.org/clinvar/345348 ^@ NM_020208.3(SLC6A20):c.*3101C>T http://identifiers.org/clinvar/345398 ^@ NM_020208.3(SLC6A20):c.1477C>T (p.Leu493Phe) http://identifiers.org/clinvar/345448 ^@ NM_024513.3(FYCO1):c.*2851C>T http://identifiers.org/clinvar/346837 ^@ NM_000306.3(POU1F1):c.*138T>A http://identifiers.org/clinvar/346148 ^@ NM_052859.3(RFT1):c.*2655T>C http://identifiers.org/clinvar/347687 ^@ NM_000901.4(NR3C2):c.*1671_*1674delTTTG http://identifiers.org/clinvar/347787 ^@ NM_005141.4(FGB):c.*619T>C http://identifiers.org/clinvar/343309 ^@ NM_000539.3(RHO):c.*1255T>C http://identifiers.org/clinvar/343359 ^@ NM_153240.4(NPHP3):c.*785G>A http://identifiers.org/clinvar/347887 ^@ NM_004744.4(LRAT):c.*3712G>C http://identifiers.org/clinvar/346887 ^@ NM_000313.3(PROS1):c.710A>C (p.Lys237Thr) http://identifiers.org/clinvar/346937 ^@ NM_177976.3(ARL6):c.-266G>A http://identifiers.org/clinvar/358504 ^@ NM_000441.1(SLC26A4):c.2320-4A>G http://identifiers.org/clinvar/358554 ^@ NM_000111.2(SLC26A3):c.590G>A (p.Arg197Gln) http://identifiers.org/clinvar/358754 ^@ NM_012338.3(TSPAN12):c.*1067_*1068delAT http://identifiers.org/clinvar/362742 ^@ NM_001017420.2(ESCO2):c.1522A>G (p.Ile508Val) http://identifiers.org/clinvar/359004 ^@ NM_020632.2(ATP6V0A4):c.2412C>T (p.His804=) http://identifiers.org/clinvar/362892 ^@ NM_023110.2(FGFR1):c.2293-11G>A http://identifiers.org/clinvar/363092 ^@ NM_006749.4(SLC20A2):c.290-13C>A http://identifiers.org/clinvar/363192 ^@ NM_005914.3(MCM4):c.-721dupT http://identifiers.org/clinvar/354964 ^@ NM_014028.3(OSTM1):c.*1352A>G http://identifiers.org/clinvar/355115 ^@ NM_000493.3(COL10A1):c.43T>G (p.Leu15Val) http://identifiers.org/clinvar/359593 ^@ NM_001277115.1(DNAH11):c.-27C>A http://identifiers.org/clinvar/363542 ^@ NM_000370.3(TTPA):c.*1135T>C http://identifiers.org/clinvar/355064 ^@ NM_003880.3(WISP3):c.327C>T (p.Tyr109=) http://identifiers.org/clinvar/359643 ^@ NM_001277115.1(DNAH11):c.6621T>A (p.Ala2207=) http://identifiers.org/clinvar/363592 ^@ NM_004820.4(CYP7B1):c.-73A>C http://identifiers.org/clinvar/355315 ^@ NM_000045.3(ARG1):c.-65C>T http://identifiers.org/clinvar/355165 ^@ NM_000165.4(GJA1):c.*119T>C http://identifiers.org/clinvar/359743 ^@ NM_032581.3(FAM126A):c.*1608A>G http://identifiers.org/clinvar/359793 ^@ NM_001031710.2(KLHL7):c.-206C>T http://identifiers.org/clinvar/355365 ^@ NM_006208.2(ENPP1):c.*536T>C http://identifiers.org/clinvar/355615 ^@ NM_003764.3(STX11):c.*1141T>G http://identifiers.org/clinvar/355415 ^@ NM_006208.2(ENPP1):c.*3271C>G http://identifiers.org/clinvar/360043 ^@ NM_203288.1(RP9):c.*420C>G http://identifiers.org/clinvar/355665 ^@ NM_003764.3(STX11):c.*4250C>T http://identifiers.org/clinvar/355715 ^@ NM_203395.2(IYD):c.*1547G>A http://identifiers.org/clinvar/355515 ^@ NM_017651.4(AHI1):c.-277G>A http://identifiers.org/clinvar/355765 ^@ NM_203395.2(IYD):c.*4465T>C http://identifiers.org/clinvar/355565 ^@ NM_000416.2(IFNGR1):c.-56T>C http://identifiers.org/clinvar/360393 ^@ NM_014855.2(AP5Z1):c.*1750G>C http://identifiers.org/clinvar/364531 ^@ NM_001079802.1(FKTN):c.*5578G>A http://identifiers.org/clinvar/360443 ^@ NM_000790.3(DDC):c.20G>A (p.Arg7Gln) http://identifiers.org/clinvar/355815 ^@ NM_033071.3(SYNE1):c.23778G>A (p.Thr7926=) http://identifiers.org/clinvar/364881 ^@ NM_002316.3(LMX1B):c.628G>C (p.Gly210Arg) http://identifiers.org/clinvar/356065 ^@ NM_198586.2(NHLRC1):c.*442G>C http://identifiers.org/clinvar/360843 ^@ NM_005751.4(AKAP9):c.9214-6T>C http://identifiers.org/clinvar/360943 ^@ NM_000089.3(COL1A2):c.81+8A>C http://identifiers.org/clinvar/360993 ^@ NM_003919.2(SGCE):c.536T>C (p.Val179Ala) http://identifiers.org/clinvar/361444 ^@ NM_001385.2(DPYS):c.*205G>A http://identifiers.org/clinvar/303223 ^@ NM_022370.3(ROBO3):c.567C>T (p.Pro189=) http://identifiers.org/clinvar/311282 ^@ NM_021954.3(GJA3):c.*3609G>A http://identifiers.org/clinvar/303523 ^@ NM_016952.4(CDON):c.197A>G (p.Lys66Arg) http://identifiers.org/clinvar/303723 ^@ NM_000525.3(KCNJ11):c.*376C>T http://identifiers.org/clinvar/303773 ^@ NM_000352.4(ABCC8):c.2422C>A (p.Gln808Lys) http://identifiers.org/clinvar/303873 ^@ NM_181507.1(HPS5):c.2562-14G>C http://identifiers.org/clinvar/298495 ^@ NM_021830.4(TWNK):c.77G>T (p.Gly26Val) http://identifiers.org/clinvar/304123 ^@ NM_213599.2(ANO5):c.*622G>A http://identifiers.org/clinvar/312321 ^@ NM_024570.3(RNASEH2B):c.-399C>G http://identifiers.org/clinvar/304173 ^@ NM_022725.3(FANCF):c.*2071A>G http://identifiers.org/clinvar/298645 ^@ NM_017649.4(CNNM2):c.1842T>C (p.Ser614=) http://identifiers.org/clinvar/304223 ^@ NM_000218.2(KCNQ1):c.1393+22646C>G http://identifiers.org/clinvar/312421 ^@ NM_001004127.2(ALG11):c.*406T>C http://identifiers.org/clinvar/298695 ^@ NM_000494.3(COL17A1):c.3478T>A (p.Ser1160Thr) http://identifiers.org/clinvar/298745 ^@ NM_000494.3(COL17A1):c.672C>T (p.Thr224=) http://identifiers.org/clinvar/312671 ^@ NM_001376.4(DYNC1H1):c.*194C>T http://identifiers.org/clinvar/298845 ^@ NM_001134363.2(RBM20):c.*2528C>A http://identifiers.org/clinvar/312771 ^@ NM_001145.4(ANG):c.-41T>C http://identifiers.org/clinvar/298895 ^@ NM_004132.4(HABP2):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/312821 ^@ NM_001126106.2(SLC7A7):c.720A>C (p.Ser240=) http://identifiers.org/clinvar/298945 ^@ NM_004132.4(HABP2):c.*1159C>T http://identifiers.org/clinvar/298795 ^@ NM_001134363.2(RBM20):c.1356A>T (p.Ile452=) http://identifiers.org/clinvar/304723 ^@ NM_018389.4(SLC35C1):c.-633T>G http://identifiers.org/clinvar/298995 ^@ NM_000141.4(FGFR2):c.2416G>A (p.Glu806Lys) http://identifiers.org/clinvar/299045 ^@ NM_002775.4(HTRA1):c.77G>A (p.Arg26Gln) http://identifiers.org/clinvar/299095 ^@ NM_001609.3(ACADSB):c.*59G>A http://identifiers.org/clinvar/299245 ^@ NM_006214.3(PHYH):c.829-3C>A http://identifiers.org/clinvar/314460 ^@ NM_003239.4(TGFB3):c.-543T>A http://identifiers.org/clinvar/315010 ^@ NM_000295.4(SERPINA1):c.*792C>T http://identifiers.org/clinvar/315560 ^@ NM_133647.1(SLC12A6):c.*2852T>C http://identifiers.org/clinvar/315610 ^@ NM_133647.1(SLC12A6):c.2163-14delT http://identifiers.org/clinvar/315760 ^@ NM_152594.2(SPRED1):c.*2506_*2513delTAAATGAG http://identifiers.org/clinvar/306599 ^@ NM_030962.3(SBF2):c.2397A>G (p.Thr799=) http://identifiers.org/clinvar/309677 ^@ NM_002272.3(KRT4):c.1020G>C (p.Ser340=) http://identifiers.org/clinvar/309727 ^@ NM_015665.5(AAAS):c.1249+8G>A http://identifiers.org/clinvar/315210 ^@ NM_139057.3(ADAMTS17):c.*882G>C http://identifiers.org/clinvar/309827 ^@ NM_000456.2(SUOX):c.-133C>T http://identifiers.org/clinvar/311382 ^@ NM_006783.4(GJB6):c.63delG (p.Lys22Argfs) http://identifiers.org/clinvar/310027 ^@ NM_001172696.1(TSFM):c.*561A>C http://identifiers.org/clinvar/310177 ^@ NM_002076.3(GNS):c.*1990A>G http://identifiers.org/clinvar/310327 ^@ NM_000619.2(IFNG):c.-9T>C http://identifiers.org/clinvar/310377 ^@ NM_173353.3(TPH2):c.-34C>G http://identifiers.org/clinvar/310477 ^@ NM_024685.3(BBS10):c.*891T>C http://identifiers.org/clinvar/310682 ^@ NM_002108.3(HAL):c.*1161C>T http://identifiers.org/clinvar/310732 ^@ NM_002108.3(HAL):c.-127C>A http://identifiers.org/clinvar/310782 ^@ NM_003276.2(TMPO):c.*446C>T http://identifiers.org/clinvar/312371 ^@ NM_000053.3(ATP7B):c.*421C>T http://identifiers.org/clinvar/310982 ^@ NM_002312.3(LIG4):c.1617A>T (p.Leu539Phe) http://identifiers.org/clinvar/338069 ^@ NM_015338.5(ASXL1):c.-94C>G http://identifiers.org/clinvar/311232 ^@ NM_000131.4(F7):c.*284C>T http://identifiers.org/clinvar/312871 ^@ NM_002471.3(MYH6):c.2398C>T (p.Arg800Cys) http://identifiers.org/clinvar/312921 ^@ NM_000257.3(MYH7):c.-47G>T http://identifiers.org/clinvar/312971 ^@ NM_000359.2(TGM1):c.2221G>A (p.Val741Ile) http://identifiers.org/clinvar/339059 ^@ NM_001001433.2(STX16):c.*56T>C http://identifiers.org/clinvar/339209 ^@ NM_017671.4(FERMT1):c.1674G>A (p.Ala558=) http://identifiers.org/clinvar/339259 ^@ NM_017671.4(FERMT1):c.-666G>A http://identifiers.org/clinvar/320752 ^@ NM_012213.2(MLYCD):c.*382G>T http://identifiers.org/clinvar/339359 ^@ NM_025219.2(DNAJC5):c.504C>T (p.Asp168=) http://identifiers.org/clinvar/339459 ^@ NM_012469.3(PRPF6):c.-54C>T http://identifiers.org/clinvar/320952 ^@ NM_001127464.2(ZNF469):c.6175G>A (p.Ala2059Thr) http://identifiers.org/clinvar/339759 ^@ NM_000219.5(KCNE1):c.*578T>C http://identifiers.org/clinvar/321202 ^@ NM_000512.4(GALNS):c.566+10C>T http://identifiers.org/clinvar/312271 ^@ NM_003850.2(SUCLA2):c.272-2A>G http://identifiers.org/clinvar/339909 ^@ NM_000411.6(HLCS):c.*3247A>G http://identifiers.org/clinvar/340059 ^@ NM_024022.2(TMPRSS3):c.715T>C (p.Tyr239His) http://identifiers.org/clinvar/321556 ^@ NM_000833.4(GRIN2A):c.*3018G>C http://identifiers.org/clinvar/321606 ^@ NM_000833.4(GRIN2A):c.3138A>G (p.Leu1046=) http://identifiers.org/clinvar/340259 ^@ NM_130445.3(COL18A1):c.2823C>A (p.Pro941=) http://identifiers.org/clinvar/340309 ^@ NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu) http://identifiers.org/clinvar/321756 ^@ NM_002470.3(MYH3):c.1707G>A (p.Val569=) http://identifiers.org/clinvar/312571 ^@ NM_005708.4(GPC6):c.*1094T>A http://identifiers.org/clinvar/321806 ^@ NM_001303.3(COX10):c.-63C>T http://identifiers.org/clinvar/326444 ^@ NM_177986.4(DSG4):c.2166G>A (p.Gly722=) http://identifiers.org/clinvar/326544 ^@ NM_000371.3(TTR):c.-61G>A http://identifiers.org/clinvar/328383 ^@ NM_000435.2(NOTCH3):c.5376G>A (p.Pro1792=) http://identifiers.org/clinvar/328483 ^@ NM_000215.3(JAK3):c.*654A>T http://identifiers.org/clinvar/328683 ^@ NM_001031726.3(C19orf12):c.*2449G>A http://identifiers.org/clinvar/328733 ^@ NM_001031726.3(C19orf12):c.-15T>C http://identifiers.org/clinvar/328783 ^@ NM_000285.3(PEPD):c.1470T>C (p.Ser490=) http://identifiers.org/clinvar/368260 ^@ NM_000531.5(OTC):c.751T>C (p.Leu251=) http://identifiers.org/clinvar/327933 ^@ NM_003331.4(TYK2):c.*134A>G http://identifiers.org/clinvar/328133 ^@ NM_000121.3(EPOR):c.*577A>G http://identifiers.org/clinvar/328433 ^@ NM_173483.3(CYP4F22):c.667C>T (p.Gln223Ter) http://identifiers.org/clinvar/328583 ^@ NM_005535.2(IL12RB1):c.1327+9C>A http://identifiers.org/clinvar/328833 ^@ NM_001037.4(SCN1B):c.-27G>C http://identifiers.org/clinvar/339159 ^@ NM_207034.2(EDN3):c.*1255C>T http://identifiers.org/clinvar/339309 ^@ NM_001853.3(COL9A3):c.1897G>A (p.Gly633Ser) http://identifiers.org/clinvar/339609 ^@ NM_000933.3(PLCB4):c.*1011A>G http://identifiers.org/clinvar/340109 ^@ NM_000394.3(CRYAA):c.*333G>A http://identifiers.org/clinvar/339109 ^@ NM_001001433.2(STX16):c.*2896A>G http://identifiers.org/clinvar/339409 ^@ NM_025219.2(DNAJC5):c.*2711G>A http://identifiers.org/clinvar/339509 ^@ NM_015192.3(PLCB1):c.2309-15A>C http://identifiers.org/clinvar/339959 ^@ NM_000411.6(HLCS):c.1911C>T (p.Ile637=) http://identifiers.org/clinvar/340009 ^@ NM_020639.2(RIPK4):c.*59C>T http://identifiers.org/clinvar/389450 ^@ NM_020822.2(KCNT1):c.1066C>T (p.Arg356Trp) http://identifiers.org/clinvar/391489 ^@ NM_004612.3(TGFBR1):c.419C>T (p.Ser140Leu) http://identifiers.org/clinvar/391139 ^@ NM_017617.4(NOTCH1):c.1100-16G>C http://identifiers.org/clinvar/383220 ^@ NM_005188.3(CBL):c.1564-18T>C http://identifiers.org/clinvar/390889 ^@ NM_001278503.1(STT3A):c.-36+10C>G http://identifiers.org/clinvar/391589 ^@ NM_015570.3(AUTS2):c.149C>A (p.Ser50Ter) http://identifiers.org/clinvar/385122 ^@ NM_000136.2(FANCC):c.1071A>G (p.Gln357=) http://identifiers.org/clinvar/389350 ^@ NM_004612.3(TGFBR1):c.582A>G (p.Pro194=) http://identifiers.org/clinvar/382819 ^@ NM_001134363.2(RBM20):c.1668+8T>C http://identifiers.org/clinvar/383971 ^@ NM_004517.3(ILK):c.-113G>T http://identifiers.org/clinvar/386111 ^@ NM_018941.3(CLN8):c.513C>G (p.Pro171=) http://identifiers.org/clinvar/383720 ^@ NM_000051.3(ATM):c.4436+12A>G http://identifiers.org/clinvar/391189 ^@ NM_012463.3(ATP6V0A2):c.1189+12G>T http://identifiers.org/clinvar/388800 ^@ NM_006231.3(POLE):c.6093C>T (p.Ser2031=) http://identifiers.org/clinvar/386511 ^@ NM_001080463.1(DYNC2H1):c.12643C>T (p.Leu4215=) http://identifiers.org/clinvar/385961 ^@ NM_006231.3(POLE):c.3183C>T (p.Ala1061=) http://identifiers.org/clinvar/391389 ^@ NM_002485.4(NBN):c.-37G>C http://identifiers.org/clinvar/383821 ^@ NM_001130438.2(SPTAN1):c.1536T>C (p.Phe512=) http://identifiers.org/clinvar/377614 ^@ NM_000719.6(CACNA1C):c.5444+609C>T http://identifiers.org/clinvar/386961 ^@ NM_002180.2(IGHMBP2):c.362C>T (p.Ser121Phe) http://identifiers.org/clinvar/390739 ^@ NM_000093.4(COL5A1):c.2386-9C>T http://identifiers.org/clinvar/383169 ^@ NM_000391.3(TPP1):c.420C>T (p.His140=) http://identifiers.org/clinvar/386811 ^@ NM_006231.3(POLE):c.4932G>A (p.Ser1644=) http://identifiers.org/clinvar/377413 ^@ NM_020297.3(ABCC9):c.142+10C>A http://identifiers.org/clinvar/382969 ^@ NM_016417.2(GLRX5):c.240C>T (p.His80=) http://identifiers.org/clinvar/387061 ^@ NM_024537.3(CARS2):c.-23A>G http://identifiers.org/clinvar/377914 ^@ NM_001482.2(GATM):c.-9G>T http://identifiers.org/clinvar/377564 ^@ NM_004329.2(BMPR1A):c.-43A>G http://identifiers.org/clinvar/389700 ^@ NM_001376.4(DYNC1H1):c.1560T>C (p.Ile520=) http://identifiers.org/clinvar/386561 ^@ NM_001376.4(DYNC1H1):c.3015+3A>G http://identifiers.org/clinvar/380725 ^@ NM_004523.3(KIF11):c.3021C>T (p.Gly1007=) http://identifiers.org/clinvar/389600 ^@ NM_016529.5(ATP8A2):c.3324A>C (p.Glu1108Asp) http://identifiers.org/clinvar/380927 ^@ NM_014844.4(TECPR2):c.1315C>T (p.Pro439Ser) http://identifiers.org/clinvar/391889 ^@ NM_002471.3(MYH6):c.3234G>A (p.Leu1078=) http://identifiers.org/clinvar/377514 ^@ NM_000051.3(ATM):c.4611+12A>G http://identifiers.org/clinvar/384922 ^@ NM_001271.3(CHD2):c.-72+12A>G http://identifiers.org/clinvar/386311 ^@ NM_021098.2(CACNA1H):c.2146G>T (p.Gly716Cys) http://identifiers.org/clinvar/388500 ^@ NM_006888.4(CALM1):c.313G>A (p.Glu105Lys) http://identifiers.org/clinvar/378014 ^@ NM_000218.2(KCNQ1):c.478-20G>A http://identifiers.org/clinvar/387161 ^@ NM_000138.4(FBN1):c.1327+14A>T http://identifiers.org/clinvar/390789 ^@ NM_021625.4(TRPV4):c.2604C>T (p.Asp868=) http://identifiers.org/clinvar/377864 ^@ NM_000138.4(FBN1):c.8445C>T (p.Leu2815=) http://identifiers.org/clinvar/384522 ^@ NM_013275.5(ANKRD11):c.5552A>G (p.Tyr1851Cys) http://identifiers.org/clinvar/380977 ^@ NM_000548.4(TSC2):c.2639+11G>A http://identifiers.org/clinvar/386361 ^@ NM_020778.4(ALPK3):c.1007G>A (p.Arg336His) http://identifiers.org/clinvar/47426 ^@ NM_133378.4(TTN):c.75839T>C (p.Ile25280Thr) http://identifiers.org/clinvar/47476 ^@ NM_133378.4(TTN):c.80568G>A (p.Glu26856=) http://identifiers.org/clinvar/47526 ^@ NM_133378.4(TTN):c.84857T>C (p.Ile28286Thr) http://identifiers.org/clinvar/47576 ^@ NM_133378.4(TTN):c.89274G>A (p.Leu29758=) http://identifiers.org/clinvar/47626 ^@ NM_001256850.1(TTN):c.95249-10dupT http://identifiers.org/clinvar/47726 ^@ NM_133379.4(TTN):c.10411G>A (p.Ala3471Thr) http://identifiers.org/clinvar/47776 ^@ NM_001256850.1(TTN):c.10360+5478T>G http://identifiers.org/clinvar/47826 ^@ NM_133432.3(TTN):c.11866A>T (p.Ile3956Phe) http://identifiers.org/clinvar/47876 ^@ NM_138691.2(TMC1):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/47926 ^@ NM_144612.6(LOXHD1):c.2175C>T (p.Asn725=) http://identifiers.org/clinvar/47976 ^@ NM_153676.3(USH1C):c.1188A>G (p.Pro396=) http://identifiers.org/clinvar/48028 ^@ NM_170707.3(LMNA):c.1106T>C (p.Leu369Pro) http://identifiers.org/clinvar/48078 ^@ NM_170707.3(LMNA):c.749C>T (p.Ala250Val) http://identifiers.org/clinvar/48128 ^@ NM_173477.4(USH1G):c.163G>A (p.Gly55Arg) http://identifiers.org/clinvar/48178 ^@ NM_194248.2(OTOF):c.1713G>A (p.Leu571=) http://identifiers.org/clinvar/48228 ^@ NM_194248.2(OTOF):c.3939G>A (p.Ala1313=) http://identifiers.org/clinvar/48278 ^@ NM_194248.2(OTOF):c.98G>A (p.Arg33Gln) http://identifiers.org/clinvar/48329 ^@ NM_201555.1(FHL2):c.689-12C>G http://identifiers.org/clinvar/48379 ^@ NM_206933.2(USH2A):c.11649A>G (p.Ile3883Met) http://identifiers.org/clinvar/48429 ^@ NM_206933.2(USH2A):c.14180G>A (p.Trp4727Ter) http://identifiers.org/clinvar/48479 ^@ NM_206933.2(USH2A):c.1934C>T (p.Thr645Ile) http://identifiers.org/clinvar/36 ^@ NM_032180.2(FAM161A):c.1309A>T (p.Arg437Ter) http://identifiers.org/clinvar/51 ^@ NM_022098.3(XPNPEP3):c.1357G>T (p.Gly453Cys) http://identifiers.org/clinvar/299 ^@ NM_000552.4(VWF):c.7603C>T (p.Arg2535Ter) http://identifiers.org/clinvar/460 ^@ NM_000097.5(CPOX):c.623C>T (p.Ser208Phe) http://identifiers.org/clinvar/701 ^@ NM_000512.4(GALNS):c.1460A>G (p.Asn487Ser) http://identifiers.org/clinvar/710 ^@ NM_000512.4(GALNS):c.205T>G (p.Phe69Val) http://identifiers.org/clinvar/724 ^@ NM_000015.2(NAT2):c.803G= (p.Arg268=) http://identifiers.org/clinvar/792 ^@ NM_022773.2(LMF1):c.1317C>G (p.Tyr439Ter) http://identifiers.org/clinvar/801 ^@ NM_000038.5(APC):c.4012C>T (p.Gln1338Ter) http://identifiers.org/clinvar/1107 ^@ NM_000642.2(AGL):c.3439A>G (p.Arg1147Gly) http://identifiers.org/clinvar/1167 ^@ NM_000505.3(F12):c.-4T>C http://identifiers.org/clinvar/2486 ^@ UNC93B1, 4-BP DEL, 1034CTTT http://identifiers.org/clinvar/2531 ^@ NM_144596.3(TTC8):c.624+1G>A http://identifiers.org/clinvar/2579 ^@ NM_000483.4(APOC2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/2624 ^@ NM_022464.4(SIL1):c.645+2T>C http://identifiers.org/clinvar/2670 ^@ SUMF1, 1-BP DEL, 243C http://identifiers.org/clinvar/2717 ^@ NM_017671.4(FERMT1):c.811C>T (p.Arg271Ter) http://identifiers.org/clinvar/2762 ^@ NM_024312.4(GNPTAB):c.1220A>C (p.Asp407Ala) http://identifiers.org/clinvar/2807 ^@ CLN8, 1-BP DEL, 66G http://identifiers.org/clinvar/2852 ^@ NM_020184.3(CNNM4):c.2149C>T (p.Gln717Ter) http://identifiers.org/clinvar/2899 ^@ NM_000419.4(ITGA2B):c.1063G>A (p.Glu355Lys) http://identifiers.org/clinvar/2943 ^@ OSTM1, 2-BP DEL, 415AG http://identifiers.org/clinvar/3036 ^@ NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) http://identifiers.org/clinvar/3083 ^@ NM_000487.5(ARSA):c.1136C>T (p.Pro379Leu) http://identifiers.org/clinvar/3132 ^@ NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) http://identifiers.org/clinvar/3183 ^@ NM_001940.3(ATN1):c.1450_1452CAG(8_25) (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/3228 ^@ NM_013382.5(POMT2):c.737G>A (p.Gly246Asp) http://identifiers.org/clinvar/3277 ^@ CDC73, 2-BP DEL http://identifiers.org/clinvar/3321 ^@ SALL4, 1-BP DEL, 1904T http://identifiers.org/clinvar/10291 ^@ NM_000132.3(F8):c.5677C>T (p.Gln1893Ter) http://identifiers.org/clinvar/10336 ^@ F8, EX2-4DEL http://identifiers.org/clinvar/10385 ^@ NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) http://identifiers.org/clinvar/10433 ^@ NM_000166.5(GJB1):c.415G>A (p.Val139Met) http://identifiers.org/clinvar/10481 ^@ NM_000032.4(ALAS2):c.1570C>G (p.His524Asp) http://identifiers.org/clinvar/10527 ^@ NM_000292.2(PHKA2):c.3025C>T (p.Gln1009Ter) http://identifiers.org/clinvar/10572 ^@ NM_000133.3(F9):c.223C>T (p.Arg75Ter) http://identifiers.org/clinvar/10617 ^@ NM_000133.3(F9):c.1217C>T (p.Ser406Leu) http://identifiers.org/clinvar/10662 ^@ NM_000133.3(F9):c.1189G>C (p.Ala397Pro) http://identifiers.org/clinvar/10708 ^@ NM_152424.3(AMER1):c.1072C>T (p.Arg358Ter) http://identifiers.org/clinvar/10753 ^@ GLA, 11-BP DEL, NT1016 http://identifiers.org/clinvar/10799 ^@ NM_015107.2(PHF8):c.529A>T (p.Lys177Ter) http://identifiers.org/clinvar/10843 ^@ NM_000054.4(AVPR2):c.839A>G (p.Tyr280Cys) http://identifiers.org/clinvar/10889 ^@ NM_000284.3(PDHA1):c.1074_1109dup36 (p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleTyrSer) http://identifiers.org/clinvar/10934 ^@ CYBB, IN5, L1 INS http://identifiers.org/clinvar/10980 ^@ NM_005710.2(PQBP1):c.459_462delAGAG (p.Arg153Serfs) http://identifiers.org/clinvar/11024 ^@ NM_198270.3(NHS):c.3459delC (p.Leu1154Cysfs) http://identifiers.org/clinvar/11114 ^@ NM_000377.2(WAS):c.257G>T (p.Arg86Leu) http://identifiers.org/clinvar/11160 ^@ NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro) http://identifiers.org/clinvar/11205 ^@ NM_139058.2(ARX):c.232G>T (p.Glu78Ter) http://identifiers.org/clinvar/11250 ^@ NM_004006.2(DMD):c.2308A>T (p.Lys770Ter) http://identifiers.org/clinvar/11296 ^@ NM_000033.3(ABCD1):c.1165C>G (p.Arg389Gly) http://identifiers.org/clinvar/11340 ^@ NM_003588.3(CUL4B):c.901-2A>G http://identifiers.org/clinvar/11387 ^@ NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) http://identifiers.org/clinvar/11548 ^@ NM_001159702.2(FHL1):c.672C>G (p.Cys224Trp) http://identifiers.org/clinvar/11598 ^@ NM_178151.2(DCX):c.574C>T (p.Arg192Trp) http://identifiers.org/clinvar/11648 ^@ NM_004541.3(NDUFA1):c.22G>C (p.Gly8Arg) http://identifiers.org/clinvar/11699 ^@ SLC6A8, 1-BP INS, 950A http://identifiers.org/clinvar/11750 ^@ NM_001110556.1(FLNA):c.373+1G>A http://identifiers.org/clinvar/11801 ^@ NM_001127899.3(CLCN5):c.1727G>A (p.Gly576Glu) http://identifiers.org/clinvar/11851 ^@ NM_000260.3(MYO7A):c.634C>T (p.Arg212Cys) http://identifiers.org/clinvar/11901 ^@ NM_000128.3(F11):c.166T>C (p.Cys56Arg) http://identifiers.org/clinvar/11951 ^@ NM_001918.3(DBT):c.1282-4142_*(434_435)del http://identifiers.org/clinvar/12003 ^@ NM_000151.3(G6PC):c.648G>T (p.Leu216=) http://identifiers.org/clinvar/12053 ^@ NM_000504.3(F10):c.1096C>T (p.Arg366Cys) http://identifiers.org/clinvar/12103 ^@ NM_000587.2(C7):c.2184T>A (p.Cys728Ter) http://identifiers.org/clinvar/12153 ^@ NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) http://identifiers.org/clinvar/12208 ^@ NM_000490.4(AVP):c.294C>A (p.Cys98Ter) http://identifiers.org/clinvar/12259 ^@ NM_003361.3(UMOD):c.376T>C (p.Cys126Arg) http://identifiers.org/clinvar/12311 ^@ NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys) http://identifiers.org/clinvar/12361 ^@ NM_000546.5(TP53):c.627_628delAA (p.Asn210Hisfs) http://identifiers.org/clinvar/12412 ^@ NM_001001430.2(TNNT2):c.328T>A (p.Phe110Ile) http://identifiers.org/clinvar/12464 ^@ NM_003289.3(TPM2):c.121G>A (p.Glu41Lys) http://identifiers.org/clinvar/12514 ^@ NM_003242.5(TGFBR2):c.1378C>T (p.Arg460Cys) http://identifiers.org/clinvar/12564 ^@ NM_001128177.1(THRB):c.1373T>C (p.Val458Ala) http://identifiers.org/clinvar/12615 ^@ NM_001063.3(TF):c.956A>G (p.His319Arg) http://identifiers.org/clinvar/12665 ^@ NM_212472.2(PRKAR1A):c.618_621delTTAT (p.Ile206Metfs) http://identifiers.org/clinvar/12716 ^@ THBD, 1-BP INS, 1689T http://identifiers.org/clinvar/12767 ^@ SURF1, 2-BP DEL, 790AG http://identifiers.org/clinvar/12817 ^@ NM_003106.3(SOX2):c.290T>C (p.Leu97Pro) http://identifiers.org/clinvar/13470 ^@ NM_002234.3(KCNA5):c.1580C>T (p.Thr527Met) http://identifiers.org/clinvar/37801 ^@ NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) http://identifiers.org/clinvar/37853 ^@ NM_000059.3(BRCA2):c.3689delC (p.Ser1230Leufs) http://identifiers.org/clinvar/38266 ^@ NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) http://identifiers.org/clinvar/38328 ^@ NM_001146040.1(GLRA1):c.299G>A (p.Arg100His) http://identifiers.org/clinvar/38385 ^@ NM_005247.2(FGF3):c.283C>T (p.Arg95Trp) http://identifiers.org/clinvar/38443 ^@ NM_139241.3(FGD4):c.1325G>A (p.Arg442His) http://identifiers.org/clinvar/38608 ^@ NM_020630.4(RET):c.1997A>T (p.Lys666Met) http://identifiers.org/clinvar/38768 ^@ NM_000495.4(COL4A5):c.2678G>T (p.Gly893Val) http://identifiers.org/clinvar/38881 ^@ NM_000532.4(PCCB):c.1606A>G (p.Asn536Asp) http://identifiers.org/clinvar/38942 ^@ NM_001363.4(DKC1):c.1226C>T (p.Pro409Leu) http://identifiers.org/clinvar/38993 ^@ NM_004614.4(TK2):c.562A>G (p.Thr188Ala) http://identifiers.org/clinvar/39044 ^@ NM_024312.4(GNPTAB):c.1999_2000insT (p.Glu667Valfs) http://identifiers.org/clinvar/50892 ^@ NM_024312.4(GNPTAB):c.2783A>G (p.Lys928Arg) http://identifiers.org/clinvar/39151 ^@ NM_198578.3(LRRK2):c.2481T>C (p.Ser827=) http://identifiers.org/clinvar/39201 ^@ NM_198578.3(LRRK2):c.4939T>A (p.Ser1647Thr) http://identifiers.org/clinvar/39252 ^@ NM_207352.3(CYP4V2):c.1187C>T (p.Pro396Leu) http://identifiers.org/clinvar/39357 ^@ NM_000769.1(CYP2C19):c.-806C>T http://identifiers.org/clinvar/39465 ^@ NM_004281.3(BAG3):c.1385T>C (p.Leu462Pro) http://identifiers.org/clinvar/39516 ^@ NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys) http://identifiers.org/clinvar/39566 ^@ NM_018706.6(DHTKD1):c.1455T>G (p.Tyr485Ter) http://identifiers.org/clinvar/39617 ^@ NM_006206.4(PDGFRA):c.1631T>C (p.Val544Ala) http://identifiers.org/clinvar/39668 ^@ NM_000314.6(PTEN):c.500C>A (p.Thr167Asn) http://identifiers.org/clinvar/39720 ^@ NM_178012.4(TUBB2B):c.1249G>A (p.Asp417Asn) http://identifiers.org/clinvar/39771 ^@ NM_002633.2(PGM1):c.361G>C (p.Gly121Arg) http://identifiers.org/clinvar/39822 ^@ NM_001077416.2(TMEM231):c.784G>A (p.Asp262Asn) http://identifiers.org/clinvar/39965 ^@ LRP1, HIS3258GLN http://identifiers.org/clinvar/40065 ^@ NM_006563.4(KLF1):c.977T>G (p.Leu326Arg) http://identifiers.org/clinvar/40214 ^@ NM_001131005.2(MEF2C):c.113T>A (p.Leu38Gln) http://identifiers.org/clinvar/40351 ^@ NM_004333.4(BRAF):c.769C>A (p.Gln257Lys) http://identifiers.org/clinvar/51157 ^@ NM_000059.3(BRCA2):c.161A>C (p.Asn54Thr) http://identifiers.org/clinvar/52019 ^@ NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile) http://identifiers.org/clinvar/52071 ^@ NM_000059.3(BRCA2):c.6352_6353delGT (p.Val2118Lysfs) http://identifiers.org/clinvar/52124 ^@ NM_000059.3(BRCA2):c.6532C>T (p.His2178Tyr) http://identifiers.org/clinvar/52175 ^@ NM_000059.3(BRCA2):c.6743_6755delATGCCACACATTC (p.His2248Leufs) http://identifiers.org/clinvar/52225 ^@ NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln) http://identifiers.org/clinvar/52277 ^@ NM_000059.3(BRCA2):c.7177A>G (p.Met2393Val) http://identifiers.org/clinvar/52327 ^@ NM_000059.3(BRCA2):c.7435+10G>A http://identifiers.org/clinvar/52377 ^@ NM_000059.3(BRCA2):c.7647C>A (p.Cys2549Ter) http://identifiers.org/clinvar/52428 ^@ NM_000059.3(BRCA2):c.7863T>A (p.Tyr2621Ter) http://identifiers.org/clinvar/52478 ^@ NM_000059.3(BRCA2):c.8032A>G (p.Arg2678Gly) http://identifiers.org/clinvar/52528 ^@ NM_000059.3(BRCA2):c.8207delT (p.Leu2736Profs) http://identifiers.org/clinvar/52579 ^@ NM_000059.3(BRCA2):c.8415_8416delAT (p.Leu2805Phefs) http://identifiers.org/clinvar/52630 ^@ NM_000059.3(BRCA2):c.8594T>A (p.Leu2865Ter) http://identifiers.org/clinvar/52681 ^@ NM_000059.3(BRCA2):c.8806T>A (p.Leu2936Met) http://identifiers.org/clinvar/52731 ^@ NM_000059.3(BRCA2):c.9027delT (p.His3010Ilefs) http://identifiers.org/clinvar/52782 ^@ NM_000059.3(BRCA2):c.9237T>C (p.Val3079=) http://identifiers.org/clinvar/52833 ^@ NM_000059.3(BRCA2):c.9414A>G (p.Leu3138=) http://identifiers.org/clinvar/52884 ^@ NM_000059.3(BRCA2):c.9649-20C>T http://identifiers.org/clinvar/52934 ^@ NM_000218.2(KCNQ1):c.1028C>G (p.Pro343Arg) http://identifiers.org/clinvar/52984 ^@ NM_000218.2(KCNQ1):c.1513C>T (p.Gln505Ter) http://identifiers.org/clinvar/53034 ^@ NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) http://identifiers.org/clinvar/53084 ^@ NM_000218.2(KCNQ1):c.683+5G>A http://identifiers.org/clinvar/53135 ^@ NM_000218.2(KCNQ1):c.939C>G (p.Ile313Met) http://identifiers.org/clinvar/53187 ^@ NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro) http://identifiers.org/clinvar/53240 ^@ NM_000492.3(CFTR):c.1392G>T (p.Lys464Asn) http://identifiers.org/clinvar/54297 ^@ NM_007294.3(BRCA1):c.1571C>T (p.Ala524Val) http://identifiers.org/clinvar/54748 ^@ NM_007294.3(BRCA1):c.3013delG (p.Glu1005Asnfs) http://identifiers.org/clinvar/54798 ^@ NM_007294.3(BRCA1):c.3214delC (p.Leu1072Terfs) http://identifiers.org/clinvar/54848 ^@ NM_007294.3(BRCA1):c.3339T>G (p.Tyr1113Ter) http://identifiers.org/clinvar/54898 ^@ NM_007294.3(BRCA1):c.3481delG (p.Glu1161Lysfs) http://identifiers.org/clinvar/54949 ^@ NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) http://identifiers.org/clinvar/55001 ^@ NM_007294.3(BRCA1):c.3774_3775delGA (p.Asn1259Phefs) http://identifiers.org/clinvar/55051 ^@ NM_007294.3(BRCA1):c.3926delA (p.Asn1309Ilefs) http://identifiers.org/clinvar/55102 ^@ NM_007294.3(BRCA1):c.4094delT (p.Leu1365Terfs) http://identifiers.org/clinvar/55153 ^@ NM_007294.3(BRCA1):c.4253T>G (p.Leu1418Ter) http://identifiers.org/clinvar/55204 ^@ NM_007294.3(BRCA1):c.4456delA (p.Ser1486Valfs) http://identifiers.org/clinvar/55254 ^@ NM_007294.3(BRCA1):c.4657T>A (p.Leu1553Met) http://identifiers.org/clinvar/55305 ^@ NM_007294.3(BRCA1):c.4873_4885delTATAATGCAATGG (p.Tyr1625Lysfs) http://identifiers.org/clinvar/55355 ^@ NM_007294.3(BRCA1):c.5017_5019delCAC (p.His1673del) http://identifiers.org/clinvar/55405 ^@ NM_007294.3(BRCA1):c.5113C>T (p.Leu1705=) http://identifiers.org/clinvar/55455 ^@ NM_007294.3(BRCA1):c.5203G>A (p.Glu1735Lys) http://identifiers.org/clinvar/55507 ^@ NM_007294.3(BRCA1):c.5288G>T (p.Gly1763Val) http://identifiers.org/clinvar/55558 ^@ NM_007294.3(BRCA1):c.5386dupT (p.Ser1796Phefs) http://identifiers.org/clinvar/55608 ^@ NM_007294.3(BRCA1):c.5510G>A (p.Trp1837Ter) http://identifiers.org/clinvar/55659 ^@ NM_007294.3(BRCA1):c.668delA (p.Lys223Argfs) http://identifiers.org/clinvar/55711 ^@ NM_007294.3(BRCA1):c.80+2dupT http://identifiers.org/clinvar/55762 ^@ NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter) http://identifiers.org/clinvar/55834 ^@ NM_003079.4(SMARCE1):c.311G>A (p.Trp104Ter) http://identifiers.org/clinvar/55912 ^@ NM_207037.1(TCF12):c.1491dupT (p.Val498Cysfs) http://identifiers.org/clinvar/55970 ^@ NM_000111.2(SLC26A3):c.1362delG (p.Gln454Hisfs) http://identifiers.org/clinvar/56023 ^@ NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) http://identifiers.org/clinvar/56074 ^@ NM_000170.2(GLDC):c.2324A>G (p.His775Arg) http://identifiers.org/clinvar/56128 ^@ NM_000274.3(OAT):c.425G>A (p.Gly142Glu) http://identifiers.org/clinvar/56179 ^@ NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) http://identifiers.org/clinvar/56988 ^@ GRCh38/hg38 9p24.3(chr9:204193-295405)x3 http://identifiers.org/clinvar/57044 ^@ GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 http://identifiers.org/clinvar/57097 ^@ GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1 http://identifiers.org/clinvar/57152 ^@ GRCh38/hg38 11p14.3(chr11:22080659-22389549)x1 http://identifiers.org/clinvar/57202 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 http://identifiers.org/clinvar/57256 ^@ GRCh38/hg38 2q22.3(chr2:144500115-144728038)x1 http://identifiers.org/clinvar/57309 ^@ GRCh38/hg38 4q12(chr4:51870025-55102392)x1 http://identifiers.org/clinvar/57362 ^@ GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1 http://identifiers.org/clinvar/102921 ^@ NM_000277.1(PAH):c.975C>G (p.Tyr325Ter) http://identifiers.org/clinvar/102979 ^@ NM_144687.3(NLRP12):c.*544C>A http://identifiers.org/clinvar/103029 ^@ NM_001033053.2(NLRP1):c.4069+217T>C http://identifiers.org/clinvar/103079 ^@ NM_001199138.1(NLRC4):c.2521+132A>T http://identifiers.org/clinvar/103129 ^@ NM_024618.3(NLRX1):c.-37G>C http://identifiers.org/clinvar/103179 ^@ NM_032206.4(NLRC5):c.3506+168G>A http://identifiers.org/clinvar/103229 ^@ NM_138329.2(NLRP6):c.1271C>A (p.Thr424Asn) http://identifiers.org/clinvar/103279 ^@ NM_153447.4(NLRP5):c.1274G>A (p.Arg425His) http://identifiers.org/clinvar/103329 ^@ NM_176811.2(NLRP8):c.2706-53T>C http://identifiers.org/clinvar/111203 ^@ NM_000416.2(IFNGR1):c.*140G>A http://identifiers.org/clinvar/111253 ^@ NM_005534.3(IFNGR2):c.722-42C>T http://identifiers.org/clinvar/120189 ^@ NM_032898.4(CEP19):c.244C>T (p.Arg82Ter) http://identifiers.org/clinvar/120265 ^@ NM_000277.1(PAH):c.1240T>C (p.Tyr414His) http://identifiers.org/clinvar/120315 ^@ NM_024605.3(ARHGAP10):c.2228A>G (p.His743Arg) http://identifiers.org/clinvar/125473 ^@ NM_007294.3(BRCA1):c.-19-55_-19-54insT http://identifiers.org/clinvar/125552 ^@ NM_007294.3(BRCA1):c.2273dupT (p.Leu758Phefs) http://identifiers.org/clinvar/125634 ^@ NM_007294.3(BRCA1):c.243delA (p.Gln81Hisfs) http://identifiers.org/clinvar/125701 ^@ NM_007294.3(BRCA1):c.4289dupC (p.Ser1431Phefs) http://identifiers.org/clinvar/125765 ^@ NM_007294.3(BRCA1):c.5145delC (p.Tyr1716Ilefs) http://identifiers.org/clinvar/125843 ^@ NM_007294.3(BRCA1):c.5406+8T>C http://identifiers.org/clinvar/125900 ^@ NM_007294.3(BRCA1):c.668dupA (p.Ala224Glyfs) http://identifiers.org/clinvar/125966 ^@ NM_000059.3(BRCA2):c.-26G>C http://identifiers.org/clinvar/126028 ^@ NM_000059.3(BRCA2):c.189A>C (p.Lys63Asn) http://identifiers.org/clinvar/126100 ^@ NM_000059.3(BRCA2):c.6391_6392insT (p.Lys2131Ilefs) http://identifiers.org/clinvar/126160 ^@ NM_000059.3(BRCA2):c.7816_7819dupGACA (p.Thr2607Argfs) http://identifiers.org/clinvar/126228 ^@ NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) http://identifiers.org/clinvar/126278 ^@ NM_015272.4(RPGRIP1L):c.3295-8del http://identifiers.org/clinvar/126329 ^@ NM_020732.3(ARID1B):c.381_386dupGCAGCA (p.Gln131_His132insGlnGln) http://identifiers.org/clinvar/126385 ^@ NM_016381.5(TREX1):c.530T>C (p.Val177Ala) http://identifiers.org/clinvar/126903 ^@ NM_005266.6(GJA5):c.223A>T (p.Ile75Phe) http://identifiers.org/clinvar/159962 ^@ NM_006306.3(SMC1A):c.616-2A>G http://identifiers.org/clinvar/160787 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 http://identifiers.org/clinvar/160837 ^@ GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 http://identifiers.org/clinvar/160992 ^@ GRCh38/hg38 6p25.3(chr6:259528-339802)x1 http://identifiers.org/clinvar/161043 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 http://identifiers.org/clinvar/161093 ^@ NM_006208.2(ENPP1):c.1831C>G (p.Leu611Val) http://identifiers.org/clinvar/161143 ^@ NM_152296.4(ATP1A3):c.2428A>T (p.Ile810Phe) http://identifiers.org/clinvar/161225 ^@ NM_004415.3(DSP):c.5513G>A (p.Arg1838His) http://identifiers.org/clinvar/161325 ^@ NM_000257.3(MYH7):c.3301G>A (p.Gly1101Ser) http://identifiers.org/clinvar/161275 ^@ NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) http://identifiers.org/clinvar/162394 ^@ NM_002732.3(PRKACG):c.222C>G (p.Ile74Met) http://identifiers.org/clinvar/162475 ^@ NM_004208.3(AIFM1):c.845C>T (p.Thr282Met) http://identifiers.org/clinvar/162532 ^@ NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu) http://identifiers.org/clinvar/162616 ^@ NM_006766.4(KAT6A):c.3116_3117delCT (p.Ser1039Terfs) http://identifiers.org/clinvar/179512 ^@ NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?)) http://identifiers.org/clinvar/179862 ^@ NM_001256850.1(TTN):c.66800G>A (p.Gly22267Asp) http://identifiers.org/clinvar/178204 ^@ NM_133378.4(TTN):c.51092C>T (p.Thr17031Ile) http://identifiers.org/clinvar/178154 ^@ NM_001256850.1(TTN):c.99669G>A (p.Pro33223=) http://identifiers.org/clinvar/179762 ^@ NM_133378.4(TTN):c.70068C>T (p.Thr23356=) http://identifiers.org/clinvar/178254 ^@ NM_133378.4(TTN):c.13131G>A (p.Glu4377=) http://identifiers.org/clinvar/179812 ^@ NM_133378.4(TTN):c.32350T>C (p.Leu10784=) http://identifiers.org/clinvar/179662 ^@ NM_133379.4(TTN):c.15653G>A (p.Arg5218Gln) http://identifiers.org/clinvar/178504 ^@ NM_194248.2(OTOF):c.5026C>T (p.Arg1676Cys) http://identifiers.org/clinvar/178654 ^@ NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) http://identifiers.org/clinvar/162860 ^@ NM_178335.2(CCDC50):c.1181A>G (p.Lys394Arg) http://identifiers.org/clinvar/162962 ^@ NM_000492.3(CFTR):c.1210-13G>T http://identifiers.org/clinvar/163113 ^@ NM_001277115.1(DNAH11):c.7901A>G (p.Asn2634Ser) http://identifiers.org/clinvar/162795 ^@ NM_004333.4(BRAF):c.2135C>A (p.Ala712Asp) http://identifiers.org/clinvar/163380 ^@ NM_005228.4(EGFR):c.2582T>A (p.Leu861Gln) http://identifiers.org/clinvar/163056 ^@ NM_015404.3(WHRN):c.427T>C (p.Leu143=) http://identifiers.org/clinvar/179962 ^@ NM_002700.2(POU4F3):c.192T>C (p.Asp64=) http://identifiers.org/clinvar/178354 ^@ NM_032119.3(ADGRV1):c.853C>G (p.Arg285Gly) http://identifiers.org/clinvar/198870 ^@ NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) http://identifiers.org/clinvar/198923 ^@ NM_172364.4(CACNA2D4):c.888G>A (p.Val296=) http://identifiers.org/clinvar/198975 ^@ NM_182914.2(SYNE2):c.16195G>A (p.Ala5399Thr) http://identifiers.org/clinvar/199026 ^@ NM_000489.4(ATRX):c.2782G>C (p.Glu928Gln) http://identifiers.org/clinvar/199076 ^@ NM_002334.3(LRP4):c.997G>A (p.Gly333Arg) http://identifiers.org/clinvar/199131 ^@ NM_014467.2(SRPX2):c.981C>G (p.Asn327Lys) http://identifiers.org/clinvar/199181 ^@ NM_133378.4(TTN):c.1447G>A (p.Ala483Thr) http://identifiers.org/clinvar/199237 ^@ NM_000540.2(RYR1):c.14061G>A (p.Leu4687=) http://identifiers.org/clinvar/200929 ^@ NM_170707.3(LMNA):c.252G>C (p.Glu84Asp) http://identifiers.org/clinvar/199680 ^@ NM_000069.2(CACNA1S):c.4113+7T>C http://identifiers.org/clinvar/199739 ^@ NM_000090.3(COL3A1):c.3245G>A (p.Arg1082Gln) http://identifiers.org/clinvar/199847 ^@ NM_004415.3(DSP):c.273+1G>A http://identifiers.org/clinvar/199905 ^@ NM_004415.3(DSP):c.6850C>T (p.Arg2284Ter) http://identifiers.org/clinvar/200703 ^@ NM_000238.3(KCNH2):c.3104_3107dupGGGG (p.Asp1037Glyfs) http://identifiers.org/clinvar/200444 ^@ NM_000238.3(KCNH2):c.2398+1G>C http://identifiers.org/clinvar/200598 ^@ NM_000238.3(KCNH2):c.453delC (p.Thr152Profs) http://identifiers.org/clinvar/200285 ^@ NM_000238.3(KCNH2):c.440A>G (p.His147Arg) http://identifiers.org/clinvar/200868 ^@ NM_000218.2(KCNQ1):c.64G>C (p.Gly22Arg) http://identifiers.org/clinvar/200815 ^@ NM_000218.2(KCNQ1):c.550T>G (p.Tyr184Asp) http://identifiers.org/clinvar/200998 ^@ NM_130799.2(MEN1):c.950_957delACATCTAC (p.His317Profs) http://identifiers.org/clinvar/200132 ^@ NM_000138.4(FBN1):c.8449T>G (p.Phe2817Val) http://identifiers.org/clinvar/200074 ^@ NM_000138.4(FBN1):c.6164-3C>T http://identifiers.org/clinvar/200186 ^@ NM_000138.4(FBN1):c.4930C>T (p.Arg1644Ter) http://identifiers.org/clinvar/200019 ^@ NM_000138.4(FBN1):c.3513C>A (p.Cys1171Ter) http://identifiers.org/clinvar/199964 ^@ NM_000138.4(FBN1):c.1091G>C (p.Arg364Pro) http://identifiers.org/clinvar/201059 ^@ NM_002474.2(MYH11):c.3125G>A (p.Arg1042Gln) http://identifiers.org/clinvar/201112 ^@ NM_002474.2(MYH11):c.1715A>G (p.Lys572Arg) http://identifiers.org/clinvar/199794 ^@ NM_001943.4(DSG2):c.3118G>A (p.Val1040Ile) http://identifiers.org/clinvar/201946 ^@ NM_144573.3(NEXN):c.2026_*1delTAAT http://identifiers.org/clinvar/202119 ^@ NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) http://identifiers.org/clinvar/202060 ^@ NM_001134363.2(RBM20):c.1769T>G (p.Met590Arg) http://identifiers.org/clinvar/201889 ^@ NM_032578.3(MYPN):c.3131G>A (p.Arg1044Gln) http://identifiers.org/clinvar/201838 ^@ NM_007078.2(LDB3):c.407C>T (p.Pro136Leu) http://identifiers.org/clinvar/202002 ^@ NM_004572.3(PKP2):c.2084G>A (p.Arg695His) http://identifiers.org/clinvar/201783 ^@ NM_000117.2(EMD):c.215A>T (p.Asp72Val) http://identifiers.org/clinvar/202176 ^@ NM_000083.2(CLCN1):c.2578G>A (p.Val860Ile) http://identifiers.org/clinvar/202226 ^@ NC_000006.11:g.(?_162865436)_(170901287_?)dup http://identifiers.org/clinvar/203070 ^@ NM_001256850.1(TTN):c.97930C>G (p.Pro32644Ala) http://identifiers.org/clinvar/203020 ^@ NM_001256850.1(TTN):c.91189G>A (p.Val30397Ile) http://identifiers.org/clinvar/202970 ^@ NM_001256850.1(TTN):c.85947C>T (p.Val28649=) http://identifiers.org/clinvar/202920 ^@ NM_001256850.1(TTN):c.78329A>G (p.Asn26110Ser) http://identifiers.org/clinvar/202870 ^@ NM_001256850.1(TTN):c.71842A>G (p.Thr23948Ala) http://identifiers.org/clinvar/202404 ^@ NM_001256850.1(TTN):c.68923C>T (p.Arg22975Ter) http://identifiers.org/clinvar/202820 ^@ NM_001256850.1(TTN):c.64610G>T (p.Arg21537Met) http://identifiers.org/clinvar/202458 ^@ NM_001256850.1(TTN):c.60608delC (p.Pro20203Hisfs) http://identifiers.org/clinvar/233841 ^@ NM_000038.5(APC):c.4243A>T (p.Ser1415Cys) http://identifiers.org/clinvar/231198 ^@ NM_005732.3(RAD50):c.1229C>G (p.Thr410Ser) http://identifiers.org/clinvar/231398 ^@ NM_005732.3(RAD50):c.1441C>T (p.Leu481Phe) http://identifiers.org/clinvar/231548 ^@ NM_005732.3(RAD50):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/230498 ^@ NM_005732.3(RAD50):c.2113C>T (p.Leu705=) http://identifiers.org/clinvar/230748 ^@ NM_002485.4(NBN):c.1551C>T (p.Asn517=) http://identifiers.org/clinvar/229759 ^@ NM_002485.4(NBN):c.621T>C (p.Ser207=) http://identifiers.org/clinvar/233891 ^@ NM_020975.4(RET):c.3039+5G>C http://identifiers.org/clinvar/232248 ^@ NM_000051.3(ATM):c.67C>T (p.Arg23Ter) http://identifiers.org/clinvar/230448 ^@ NM_000051.3(ATM):c.1660delA (p.Thr554Argfs) http://identifiers.org/clinvar/233991 ^@ NM_000051.3(ATM):c.2672C>G (p.Ser891Ter) http://identifiers.org/clinvar/234191 ^@ NM_000051.3(ATM):c.2744C>A (p.Thr915Asn) http://identifiers.org/clinvar/233588 ^@ NM_000051.3(ATM):c.3154-4G>T http://identifiers.org/clinvar/231448 ^@ NM_000051.3(ATM):c.3549T>C (p.Asn1183=) http://identifiers.org/clinvar/229709 ^@ NM_000051.3(ATM):c.4545C>T (p.Asn1515=) http://identifiers.org/clinvar/230998 ^@ NM_000051.3(ATM):c.5368G>A (p.Asp1790Asn) http://identifiers.org/clinvar/233538 ^@ NM_000051.3(ATM):c.5509T>G (p.Phe1837Val) http://identifiers.org/clinvar/231798 ^@ NM_000051.3(ATM):c.6670A>G (p.Met2224Val) http://identifiers.org/clinvar/231098 ^@ NM_000051.3(ATM):c.8515T>A (p.Phe2839Ile) http://identifiers.org/clinvar/231298 ^@ NM_005591.3(MRE11):c.1106A>G (p.Tyr369Cys) http://identifiers.org/clinvar/233739 ^@ NM_005591.3(MRE11):c.431T>C (p.Leu144Ser) http://identifiers.org/clinvar/230898 ^@ NM_000059.3(BRCA2):c.1255T>C (p.Cys419Arg) http://identifiers.org/clinvar/231148 ^@ NM_000059.3(BRCA2):c.7435+5T>C http://identifiers.org/clinvar/231248 ^@ NM_000059.3(BRCA2):c.8499G>C (p.Lys2833Asn) http://identifiers.org/clinvar/231348 ^@ NM_000548.4(TSC2):c.2050G>A (p.Val684Met) http://identifiers.org/clinvar/231048 ^@ NM_024675.3(PALB2):c.3219C>G (p.Val1073=) http://identifiers.org/clinvar/233338 ^@ NM_024675.3(PALB2):c.3204G>T (p.Gly1068=) http://identifiers.org/clinvar/233438 ^@ NM_004360.4(CDH1):c.89C>G (p.Pro30Arg) http://identifiers.org/clinvar/230798 ^@ NM_004360.4(CDH1):c.445C>A (p.Leu149Ile) http://identifiers.org/clinvar/230948 ^@ NM_004360.4(CDH1):c.604G>C (p.Val202Leu) http://identifiers.org/clinvar/234241 ^@ NM_001042492.2(NF1):c.1080A>C (p.Pro360=) http://identifiers.org/clinvar/231748 ^@ NM_001042492.2(NF1):c.1538A>G (p.Lys513Arg) http://identifiers.org/clinvar/229659 ^@ NM_001042492.2(NF1):c.3631C>T (p.Leu1211=) http://identifiers.org/clinvar/231648 ^@ NM_001042492.2(NF1):c.5101A>C (p.Lys1701Gln) http://identifiers.org/clinvar/230698 ^@ NM_002878.3(RAD51D):c.195C>T (p.Pro65=) http://identifiers.org/clinvar/230548 ^@ NM_007294.3(BRCA1):c.3294delT (p.Pro1099Leufs) http://identifiers.org/clinvar/234141 ^@ NM_007294.3(BRCA1):c.2910A>G (p.Lys970=) http://identifiers.org/clinvar/233288 ^@ NM_007294.3(BRCA1):c.2798G>C (p.Gly933Ala) http://identifiers.org/clinvar/231698 ^@ NM_007294.3(BRCA1):c.2679G>A (p.Lys893=) http://identifiers.org/clinvar/230648 ^@ NM_000546.5(TP53):c.673-5C>G http://identifiers.org/clinvar/230598 ^@ NM_000455.4(STK11):c.849T>C (p.Ser283=) http://identifiers.org/clinvar/233388 ^@ NM_007194.3(CHEK2):c.1340T>G (p.Phe447Cys) http://identifiers.org/clinvar/233790 ^@ NM_007194.3(CHEK2):c.215A>G (p.Tyr72Cys) http://identifiers.org/clinvar/235403 ^@ NM_004426.2(PHC1):c.1598G>A (p.Arg533Gln) http://identifiers.org/clinvar/235458 ^@ NC_012920.1:m.9467T>C http://identifiers.org/clinvar/235510 ^@ NM_024312.4(GNPTAB):c.136C>A (p.Arg46=) http://identifiers.org/clinvar/235563 ^@ NM_001029882.3(AHDC1):c.-971A>G http://identifiers.org/clinvar/235613 ^@ NC_012920.1:m.12681T>C http://identifiers.org/clinvar/235666 ^@ NM_001287.5(CLCN7):c.1961C>T (p.Thr654Met) http://identifiers.org/clinvar/235726 ^@ NM_001142301.1(TMEM67):c.2522-12delT http://identifiers.org/clinvar/242401 ^@ NM_001567.3(INPPL1):c.24_39del16 (p.Gly9Trpfs) http://identifiers.org/clinvar/236037 ^@ NM_016239.3(MYO15A):c.7207G>T (p.Asp2403Tyr) http://identifiers.org/clinvar/236137 ^@ NM_000350.2(ABCA4):c.5656G>A (p.Gly1886Arg) http://identifiers.org/clinvar/236087 ^@ NM_000350.2(ABCA4):c.1822T>A (p.Phe608Ile) http://identifiers.org/clinvar/236187 ^@ NM_014625.3(NPHS2):c.275-56T>G http://identifiers.org/clinvar/236275 ^@ NM_007294.3(BRCA1):c.64_65dupTT (p.Leu22Phefs) http://identifiers.org/clinvar/236326 ^@ NC_000022.9:g.17266915_21751058dup4484144 http://identifiers.org/clinvar/236376 ^@ NC_000017.10:g.14101029_15482817del1381789 http://identifiers.org/clinvar/236477 ^@ NM_201253.2(CRB1):c.1006T>C (p.Cys336Arg) http://identifiers.org/clinvar/236527 ^@ NM_006017.2(PROM1):c.1579-1G>C http://identifiers.org/clinvar/236427 ^@ NM_002335.3(LRP5):c.1034T>A (p.Leu345Gln) http://identifiers.org/clinvar/242027 ^@ NM_174936.3(PCSK9):c.1658A>G (p.His553Arg) http://identifiers.org/clinvar/241977 ^@ NM_152383.4(DIS3L2):c.301G>T (p.Ala101Ser) http://identifiers.org/clinvar/237383 ^@ NM_000251.2(MSH2):c.2150_2153delGTCA (p.Ser717Asnfs) http://identifiers.org/clinvar/242177 ^@ NM_181426.1(CCDC39):c.83A>C (p.Glu28Ala) http://identifiers.org/clinvar/237333 ^@ NM_000249.3(MLH1):c.222T>C (p.Asp74=) http://identifiers.org/clinvar/237283 ^@ NM_000222.2(KIT):c.840G>C (p.Ala280=) http://identifiers.org/clinvar/236627 ^@ NM_000038.5(APC):c.606A>G (p.Glu202=) http://identifiers.org/clinvar/236577 ^@ NM_000038.5(APC):c.2669T>G (p.Val890Gly) http://identifiers.org/clinvar/242227 ^@ NM_198253.2(TERT):c.2468+10G>T http://identifiers.org/clinvar/262076 ^@ NM_032446.2(MEGF10):c.3387T>A (p.Gly1129=) http://identifiers.org/clinvar/255937 ^@ NM_000358.2(TGFBI):c.1620T>C (p.Phe540=) http://identifiers.org/clinvar/260037 ^@ NM_006790.2(MYOT):c.630G>A (p.Ser210=) http://identifiers.org/clinvar/261676 ^@ NM_023073.3(C5orf42):c.8013A>C (p.Ala2671=) http://identifiers.org/clinvar/256087 ^@ NM_000426.3(LAMA2):c.7473A>G (p.Lys2491=) http://identifiers.org/clinvar/260837 ^@ NM_017651.4(AHI1):c.135+41G>A http://identifiers.org/clinvar/262176 ^@ NM_033071.3(SYNE1):c.19258-18C>T http://identifiers.org/clinvar/256287 ^@ NM_000500.7(CYP21A2):c.138C>A (p.Pro46=) http://identifiers.org/clinvar/260437 ^@ NM_014780.4(CUL7):c.2439A>G (p.Gln813=) http://identifiers.org/clinvar/259987 ^@ NM_006502.2(POLH):c.1434G>A (p.Thr478=) http://identifiers.org/clinvar/260187 ^@ NM_012120.2(CD2AP):c.1743T>A (p.Asn581Lys) http://identifiers.org/clinvar/260937 ^@ NM_017802.3(DNAAF5):c.622C>T (p.Leu208=) http://identifiers.org/clinvar/254748 ^@ NM_000050.4(ASS1):c.804C>T (p.Ile268=) http://identifiers.org/clinvar/260137 ^@ NM_007171.3(POMT1):c.-20T>C http://identifiers.org/clinvar/262426 ^@ NM_139025.4(ADAMTS13):c.1368G>T (p.Gln456His) http://identifiers.org/clinvar/255048 ^@ NM_000093.4(COL5A1):c.1332+25C>T http://identifiers.org/clinvar/255098 ^@ NM_000093.4(COL5A1):c.5307C>T (p.Ser1769=) http://identifiers.org/clinvar/260687 ^@ NM_016169.3(SUFU):c.1299T>C (p.Ile433=) http://identifiers.org/clinvar/262126 ^@ NM_032844.4(MASTL):c.660+12A>T http://identifiers.org/clinvar/260237 ^@ NM_012330.3(KAT6B):c.3252_3263delGGAAGAAGAGGA (p.Glu1086_Glu1089del) http://identifiers.org/clinvar/260487 ^@ NM_014956.4(CEP164):c.3927C>T (p.Thr1309=) http://identifiers.org/clinvar/262676 ^@ NM_152722.4(HEPACAM):c.*50C>G http://identifiers.org/clinvar/260787 ^@ NM_016952.4(CDON):c.2363-28_2363-26delGTT http://identifiers.org/clinvar/259837 ^@ NM_005609.3(PYGM):c.516C>T (p.Ser172=) http://identifiers.org/clinvar/259687 ^@ NM_005247.2(FGF3):c.325-5C>T http://identifiers.org/clinvar/262226 ^@ NM_033360.3(KRAS):c.558C>T (p.Cys186=) http://identifiers.org/clinvar/262576 ^@ NM_145064.2(STAC3):c.604-8C>T http://identifiers.org/clinvar/256687 ^@ NM_000552.4(VWF):c.5667C>T (p.Pro1889=) http://identifiers.org/clinvar/261826 ^@ NM_025114.3(CEP290):c.1386C>T (p.Val462=) http://identifiers.org/clinvar/261626 ^@ NM_022489.3(INF2):c.489C>T (p.Asp163=) http://identifiers.org/clinvar/259937 ^@ NM_006194.3(PAX9):c.718G>C (p.Ala240Pro) http://identifiers.org/clinvar/255787 ^@ NM_000295.4(SERPINA1):c.1068C>T (p.Ala356=) http://identifiers.org/clinvar/261926 ^@ NM_030621.4(DICER1):c.5391G>A (p.Glu1797=) http://identifiers.org/clinvar/262376 ^@ NM_138477.2(CDAN1):c.3474A>C (p.Leu1158=) http://identifiers.org/clinvar/332882 ^@ NM_133378.4(TTN):c.30469G>A (p.Glu10157Lys) http://identifiers.org/clinvar/332532 ^@ NM_003659.3(AGPS):c.*469A>T http://identifiers.org/clinvar/332982 ^@ NM_201548.4(CERKL):c.*1058T>G http://identifiers.org/clinvar/332632 ^@ NM_003690.4(PRKRA):c.65+10C>T http://identifiers.org/clinvar/335873 ^@ NM_014946.3(SPAST):c.*1969A>T http://identifiers.org/clinvar/333132 ^@ NM_000393.4(COL5A2):c.3633+14G>T http://identifiers.org/clinvar/335273 ^@ NM_004321.7(KIF1A):c.2555+4G>A http://identifiers.org/clinvar/333232 ^@ NM_005259.2(MSTN):c.*121A>G http://identifiers.org/clinvar/335423 ^@ NM_194248.2(OTOF):c.*696A>G http://identifiers.org/clinvar/336123 ^@ NM_133259.3(LRPPRC):c.*1435delC http://identifiers.org/clinvar/333382 ^@ NM_001006657.1(WDR35):c.2301-11T>G http://identifiers.org/clinvar/336223 ^@ NM_001430.4(EPAS1):c.-316C>A http://identifiers.org/clinvar/335573 ^@ NM_001029883.2(C2orf71):c.*2929T>C http://identifiers.org/clinvar/333632 ^@ NM_001204.6(BMPR2):c.-407G>T http://identifiers.org/clinvar/336430 ^@ NM_000251.2(MSH2):c.1124C>G (p.Thr375Ser) http://identifiers.org/clinvar/333332 ^@ NM_001006657.1(WDR35):c.*2622A>G http://identifiers.org/clinvar/336630 ^@ NM_001039348.2(EFEMP1):c.246A>G (p.Glu82=) http://identifiers.org/clinvar/336730 ^@ NM_032180.2(FAM161A):c.*68G>A http://identifiers.org/clinvar/335923 ^@ NM_000104.3(CYP1B1):c.*1601C>T http://identifiers.org/clinvar/333482 ^@ NM_032977.3(CASP10):c.*2831C>T http://identifiers.org/clinvar/335973 ^@ NM_005633.3(SOS1):c.*3539T>C http://identifiers.org/clinvar/333532 ^@ NM_001044385.2(TMEM237):c.*3453T>G http://identifiers.org/clinvar/333582 ^@ NM_020919.3(ALS2):c.*15T>G http://identifiers.org/clinvar/336173 ^@ NM_133259.3(LRPPRC):c.135C>T (p.Ala45=) http://identifiers.org/clinvar/336930 ^@ NM_001692.3(ATP6V1B1):c.*68C>T http://identifiers.org/clinvar/333682 ^@ NM_001204.6(BMPR2):c.*2901dupA http://identifiers.org/clinvar/336273 ^@ NM_001430.4(EPAS1):c.2171G>A (p.Gly724Glu) http://identifiers.org/clinvar/333782 ^@ NM_005006.6(NDUFS1):c.1393-7delT http://identifiers.org/clinvar/336373 ^@ NM_139279.5(MCFD2):c.*428G>A http://identifiers.org/clinvar/336680 ^@ NM_002618.3(PEX13):c.*676A>G http://identifiers.org/clinvar/337669 ^@ NM_001298.2(CNGA3):c.1968G>A (p.Met656Ile) http://identifiers.org/clinvar/335473 ^@ NM_000221.2(KHK):c.-469A>C http://identifiers.org/clinvar/335123 ^@ NM_004369.3(COL6A3):c.4108G>T (p.Ala1370Ser) http://identifiers.org/clinvar/335173 ^@ NM_004544.3(NDUFA10):c.*2042A>C http://identifiers.org/clinvar/335673 ^@ NM_001029883.2(C2orf71):c.102C>T (p.Gly34=) http://identifiers.org/clinvar/335323 ^@ NM_152783.4(D2HGDH):c.1505A>G (p.Lys502Arg) http://identifiers.org/clinvar/335723 ^@ NM_004304.4(ALK):c.-276G>A http://identifiers.org/clinvar/343659 ^@ NM_000935.2(PLOD2):c.-412C>T http://identifiers.org/clinvar/335373 ^@ NM_000182.4(HADHA):c.2147-8C>G http://identifiers.org/clinvar/335823 ^@ NM_014946.3(SPAST):c.-176C>T http://identifiers.org/clinvar/343909 ^@ NM_000060.4(BTD):c.1103A>C (p.Asp368Ala) http://identifiers.org/clinvar/343959 ^@ NM_020800.2(IFT80):c.*104G>A http://identifiers.org/clinvar/344009 ^@ NM_001041.3(SI):c.4692+12C>T http://identifiers.org/clinvar/335623 ^@ NM_001029883.2(C2orf71):c.*658G>C http://identifiers.org/clinvar/344109 ^@ NM_145860.1(PDCD10):c.214G>C (p.Val72Leu) http://identifiers.org/clinvar/335773 ^@ NM_000379.3(XDH):c.2268C>T (p.Gly756=) http://identifiers.org/clinvar/357315 ^@ NM_003221.3(TFAP2B):c.*1678T>C http://identifiers.org/clinvar/357415 ^@ NM_138694.3(PKHD1):c.9705T>A (p.Asn3235Lys) http://identifiers.org/clinvar/357465 ^@ NM_052872.3(IL17F):c.*123C>T http://identifiers.org/clinvar/354625 ^@ NM_000439.4(PCSK1):c.*1097C>A http://identifiers.org/clinvar/354875 ^@ NM_007214.4(SEC63):c.*1113_*1115delTGG http://identifiers.org/clinvar/354925 ^@ NM_007214.4(SEC63):c.-268C>A http://identifiers.org/clinvar/354975 ^@ NM_014028.3(OSTM1):c.*355A>G http://identifiers.org/clinvar/350928 ^@ NM_017415.2(KLHL3):c.*3473T>C http://identifiers.org/clinvar/351078 ^@ NM_001369.2(DNAH5):c.6230T>C (p.Phe2077Ser) http://identifiers.org/clinvar/355025 ^@ NM_014845.5(FIG4):c.-138T>C http://identifiers.org/clinvar/355176 ^@ NM_000165.4(GJA1):c.*773dupT http://identifiers.org/clinvar/355226 ^@ NM_006073.3(TRDN):c.232G>T (p.Ala78Ser) http://identifiers.org/clinvar/355326 ^@ NM_006208.2(ENPP1):c.165G>A (p.Val55=) http://identifiers.org/clinvar/351378 ^@ NM_002700.2(POU4F3):c.-79C>A http://identifiers.org/clinvar/355476 ^@ NM_172105.3(EYA4):c.*2968T>A http://identifiers.org/clinvar/355526 ^@ NM_000288.3(PEX7):c.94C>T (p.Leu32=) http://identifiers.org/clinvar/351628 ^@ NM_024577.3(SH3TC2):c.*16902G>A http://identifiers.org/clinvar/351878 ^@ NM_024577.3(SH3TC2):c.*858_*861delTTTT http://identifiers.org/clinvar/359054 ^@ NM_018238.3(AGK):c.-75G>C http://identifiers.org/clinvar/359104 ^@ NM_000083.2(CLCN1):c.663G>A (p.Ala221=) http://identifiers.org/clinvar/351728 ^@ NM_024577.3(SH3TC2):c.*10010_*10013dupATCC http://identifiers.org/clinvar/359304 ^@ NM_000238.3(KCNH2):c.3153-13C>T http://identifiers.org/clinvar/352028 ^@ NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) http://identifiers.org/clinvar/356215 ^@ NM_001109809.2(ZFP57):c.749G>A (p.Arg250His) http://identifiers.org/clinvar/351978 ^@ NM_000440.2(PDE6A):c.*126T>C http://identifiers.org/clinvar/359604 ^@ NM_001277115.1(DNAH11):c.1233A>G (p.Gly411=) http://identifiers.org/clinvar/359704 ^@ NM_001277115.1(DNAH11):c.*126G>A http://identifiers.org/clinvar/356415 ^@ NM_080680.2(COL11A2):c.-200G>A http://identifiers.org/clinvar/359804 ^@ NM_001031710.2(KLHL7):c.*98G>A http://identifiers.org/clinvar/359954 ^@ NM_005522.4(HOXA1):c.825C>T (p.Ile275=) http://identifiers.org/clinvar/360104 ^@ NM_133468.4(BMPER):c.774T>G (p.Ala258=) http://identifiers.org/clinvar/356865 ^@ NM_014780.4(CUL7):c.-300G>C http://identifiers.org/clinvar/360304 ^@ NM_014855.2(AP5Z1):c.-3G>A http://identifiers.org/clinvar/357365 ^@ NM_138694.3(PKHD1):c.*2922T>C http://identifiers.org/clinvar/357515 ^@ NM_018100.3(EFHC1):c.*1490C>A http://identifiers.org/clinvar/361143 ^@ NM_015713.4(RRM2B):c.*2613delA http://identifiers.org/clinvar/361343 ^@ NM_178857.5(RP1L1):c.2469C>T (p.Ser823=) http://identifiers.org/clinvar/361393 ^@ NM_178857.5(RP1L1):c.814C>G (p.Pro272Ala) http://identifiers.org/clinvar/361494 ^@ NM_001715.2(BLK):c.1208C>T (p.Ala403Val) http://identifiers.org/clinvar/363942 ^@ NM_018444.3(PDP1):c.546C>T (p.Ser182=) http://identifiers.org/clinvar/363842 ^@ NM_000067.2(CA2):c.*562T>C http://identifiers.org/clinvar/363892 ^@ NM_002485.4(NBN):c.*1977T>C http://identifiers.org/clinvar/361093 ^@ NM_017890.4(VPS13B):c.11007C>T (p.Asn3669=) http://identifiers.org/clinvar/306549 ^@ NM_016156.5(MTMR2):c.-222G>C http://identifiers.org/clinvar/364242 ^@ NM_014425.4(INVS):c.*465_*466insCTCACA http://identifiers.org/clinvar/300145 ^@ NM_000242.2(MBL2):c.*282A>G http://identifiers.org/clinvar/364292 ^@ NM_000035.3(ALDOB):c.*849T>C http://identifiers.org/clinvar/307049 ^@ NM_052845.3(MMAB):c.*721T>G http://identifiers.org/clinvar/364542 ^@ NM_003640.4(IKBKAP):c.*1214C>T http://identifiers.org/clinvar/364592 ^@ NM_003640.4(IKBKAP):c.-301C>G http://identifiers.org/clinvar/364642 ^@ NM_000031.5(ALAD):c.897C>T (p.Ala299=) http://identifiers.org/clinvar/364442 ^@ NM_005502.3(ABCA1):c.1716G>A (p.Gly572=) http://identifiers.org/clinvar/307349 ^@ NM_005996.3(TBX3):c.*25T>A http://identifiers.org/clinvar/307499 ^@ NM_152269.4(C12orf65):c.*128C>A http://identifiers.org/clinvar/300745 ^@ NM_002658.4(PLAU):c.236G>A (p.Arg79Gln) http://identifiers.org/clinvar/364692 ^@ NM_015404.3(WHRN):c.1227C>T (p.Ala409=) http://identifiers.org/clinvar/364792 ^@ NM_018249.5(CDK5RAP2):c.-172C>T http://identifiers.org/clinvar/364892 ^@ NM_002316.3(LMX1B):c.*51A>G http://identifiers.org/clinvar/364992 ^@ NM_002316.3(LMX1B):c.*4171T>C http://identifiers.org/clinvar/309188 ^@ NM_000217.2(KCNA1):c.*2313C>T http://identifiers.org/clinvar/309288 ^@ NM_000617.2(SLC11A2):c.*1261G>A http://identifiers.org/clinvar/298406 ^@ NM_004376.6(COX15):c.*421C>G http://identifiers.org/clinvar/309438 ^@ NM_000020.2(ACVRL1):c.-58G>A http://identifiers.org/clinvar/309688 ^@ NM_002272.3(KRT4):c.677+4C>T http://identifiers.org/clinvar/309738 ^@ NM_015665.5(AAAS):c.258T>A (p.Asp86Glu) http://identifiers.org/clinvar/302434 ^@ NM_001931.4(DLAT):c.-647C>A http://identifiers.org/clinvar/310138 ^@ NM_001038.5(SCNN1A):c.1484C>T (p.Ser495Leu) http://identifiers.org/clinvar/302934 ^@ NG_012235.1:g.11245A>T http://identifiers.org/clinvar/340459 ^@ NM_006031.5(PCNT):c.379C>G (p.Pro127Ala) http://identifiers.org/clinvar/322006 ^@ NM_002615.6(SERPINF1):c.643+6C>T http://identifiers.org/clinvar/340660 ^@ NM_014339.6(IL17RA):c.*2570_*2571delCA http://identifiers.org/clinvar/340710 ^@ NM_014339.6(IL17RA):c.*4360T>G http://identifiers.org/clinvar/312832 ^@ NM_001126106.2(SLC7A7):c.-86T>C http://identifiers.org/clinvar/322256 ^@ NM_000430.3(PAFAH1B1):c.-192C>T http://identifiers.org/clinvar/322356 ^@ NM_080669.5(SLC46A1):c.*3389G>A http://identifiers.org/clinvar/314771 ^@ NM_018418.4(SPATA7):c.-112A>C http://identifiers.org/clinvar/322606 ^@ NM_000267.3(NF1):c.*3174A>C http://identifiers.org/clinvar/322706 ^@ NM_145068.3(TRPV3):c.*2019A>G http://identifiers.org/clinvar/322756 ^@ NM_145068.3(TRPV3):c.2034C>T (p.Gly678=) http://identifiers.org/clinvar/322856 ^@ NM_004937.2(CTNS):c.*527G>A http://identifiers.org/clinvar/322906 ^@ NM_004937.2(CTNS):c.*1956_*1957delAA http://identifiers.org/clinvar/313721 ^@ NM_000347.5(SPTB):c.4973+12C>T http://identifiers.org/clinvar/313871 ^@ NM_015346.3(ZFYVE26):c.7617G>A (p.Lys2539=) http://identifiers.org/clinvar/367821 ^@ NM_001167.3(XIAP):c.*3205T>C http://identifiers.org/clinvar/367921 ^@ NM_004840.2(ARHGEF6):c.*2062T>C http://identifiers.org/clinvar/314171 ^@ NM_005589.3(ALDH6A1):c.1400G>A (p.Gly467Glu) http://identifiers.org/clinvar/368021 ^@ NM_001018113.2(FANCB):c.2411A>G (p.Asp804Gly) http://identifiers.org/clinvar/368071 ^@ NM_000054.4(AVPR2):c.19A>T (p.Thr7Ser) http://identifiers.org/clinvar/368171 ^@ NM_000444.5(PHEX):c.2052C>T (p.Phe684=) http://identifiers.org/clinvar/324151 ^@ NM_053013.3(ENO3):c.1208G>A (p.Arg403His) http://identifiers.org/clinvar/314371 ^@ NM_001040108.1(MLH3):c.3987+15C>T http://identifiers.org/clinvar/368321 ^@ NM_006915.2(RP2):c.*1908G>A http://identifiers.org/clinvar/314421 ^@ NM_017791.2(FLVCR2):c.*98T>C http://identifiers.org/clinvar/324302 ^@ NM_032043.2(BRIP1):c.*2908C>T http://identifiers.org/clinvar/368671 ^@ NM_001109878.1(TBX22):c.1544C>A (p.Ala515Glu) http://identifiers.org/clinvar/314621 ^@ NM_004863.3(SPTLC2):c.*2718_*2719delCT http://identifiers.org/clinvar/324554 ^@ NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) http://identifiers.org/clinvar/324604 ^@ NM_014336.4(AIPL1):c.*150_*151insCAA http://identifiers.org/clinvar/324804 ^@ NM_002734.4(PRKAR1A):c.*1118dupT http://identifiers.org/clinvar/317110 ^@ NM_022369.3(STRA6):c.720+15C>T http://identifiers.org/clinvar/317160 ^@ NM_000126.3(ETFA):c.-59C>T http://identifiers.org/clinvar/317561 ^@ NM_000875.4(IGF1R):c.*3489G>A http://identifiers.org/clinvar/325354 ^@ NM_004035.6(ACOX1):c.*949_*951delGTT http://identifiers.org/clinvar/373021 ^@ NM_002016.1(FLG):c.5230C>T (p.Gln1744Ter) http://identifiers.org/clinvar/372402 ^@ NM_000228.2(LAMB3):c.1017T>G (p.Tyr339Ter) http://identifiers.org/clinvar/373421 ^@ NM_020631.4(PLEKHG5):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/373821 ^@ NM_000726.4(CACNB4):c.543_545delTTC (p.Ser183del) http://identifiers.org/clinvar/373671 ^@ NM_006514.3(SCN10A):c.3304C>T (p.Pro1102Ser) http://identifiers.org/clinvar/373471 ^@ NM_053025.3(MYLK):c.554C>G (p.Thr185Ser) http://identifiers.org/clinvar/373771 ^@ NM_005017.3(PCYT1A):c.955_956dupAG (p.Ser319Argfs) http://identifiers.org/clinvar/373621 ^@ NM_001148.4(ANK2):c.10016C>T (p.Ala3339Val) http://identifiers.org/clinvar/373571 ^@ NM_002291.2(LAMB1):c.55G>A (p.Val19Met) http://identifiers.org/clinvar/372920 ^@ NM_001197104.1(KMT2A):c.3464G>A (p.Cys1155Tyr) http://identifiers.org/clinvar/373721 ^@ NM_003383.4(VLDLR):c.982A>G (p.Ser328Gly) http://identifiers.org/clinvar/373521 ^@ NM_000256.3(MYBPC3):c.3442A>C (p.Ser1148Arg) http://identifiers.org/clinvar/373321 ^@ NM_000260.3(MYO7A):c.6236G>A (p.Arg2079Gln) http://identifiers.org/clinvar/373121 ^@ NM_006939.3(SOS2):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/372868 ^@ NM_000814.5(GABRB3):c.838A>T (p.Ile280Phe) http://identifiers.org/clinvar/373171 ^@ NM_003239.4(TGFB3):c.974G>A (p.Arg325Gln) http://identifiers.org/clinvar/373071 ^@ NM_000275.2(OCA2):c.440dupT (p.Ser148Valfs) http://identifiers.org/clinvar/373271 ^@ NM_024422.4(DSC2):c.2287G>A (p.Ala763Thr) http://identifiers.org/clinvar/373221 ^@ NM_001127221.1(CACNA1A):c.2860G>A (p.Gly954Arg) http://identifiers.org/clinvar/373371 ^@ NM_000444.5(PHEX):c.1586+2T>A http://identifiers.org/clinvar/372971 ^@ NM_001456.3(FLNA):c.632C>G (p.Pro211Arg) http://identifiers.org/clinvar/373871 ^@ NG_005905.2:g.(?_92501)_(170342_172181)del http://identifiers.org/clinvar/374174 ^@ NM_003221.3(TFAP2B):c.830C>G (p.Ser277Trp) http://identifiers.org/clinvar/373924 ^@ NM_000093.4(COL5A1):c.1389G>A (p.Pro463=) http://identifiers.org/clinvar/374074 ^@ NM_000257.3(MYH7):c.1224T>A (p.Asn408Lys) http://identifiers.org/clinvar/374024 ^@ NM_000153.3(GALC):c.850G>A (p.Gly284Ser) http://identifiers.org/clinvar/374124 ^@ NM_198525.2(KIF7):c.434A>C (p.Tyr145Ser) http://identifiers.org/clinvar/373974 ^@ NM_001099922.2(ALG13):c.411G>C (p.Lys137Asn) http://identifiers.org/clinvar/374228 ^@ NM_001289396.1(SMARCA2):c.1450C>A (p.His484Asn) http://identifiers.org/clinvar/374298 ^@ NM_014191.3(SCN8A):c.647T>G (p.Val216Gly) http://identifiers.org/clinvar/374928 ^@ NM_015213.3(DENND5A):c.3811delC (p.Gln1271Argfs) http://identifiers.org/clinvar/374982 ^@ NM_000551.3(VHL):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/375315 ^@ NM_014855.2(AP5Z1):c.616C>T (p.Arg206Trp) http://identifiers.org/clinvar/375368 ^@ NM_001356.4(DDX3X):c.192dupA (p.Asp65Argfs) http://identifiers.org/clinvar/375423 ^@ NM_001453.2(FOXC1):c.269C>A (p.Ala90Asp) http://identifiers.org/clinvar/375488 ^@ NM_001003694.1(BRPF1):c.3298C>T (p.Arg1100Ter) http://identifiers.org/clinvar/375542 ^@ NM_020822.2(KCNT1):c.1799G>A (p.Arg600Gln) http://identifiers.org/clinvar/375607 ^@ NM_018713.2(SLC30A10):c.492delC (p.Gly165Alafs) http://identifiers.org/clinvar/375660 ^@ NM_000748.2(CHRNB2):c.*472G>A http://identifiers.org/clinvar/375804 ^@ NM_000527.4(LDLR):c.940+1dup http://identifiers.org/clinvar/375854 ^@ NM_001040113.1(MYH11):c.4417A>C (p.Lys1473Gln) http://identifiers.org/clinvar/375907 ^@ NM_000222.2(KIT):c.1657T>A (p.Tyr553Asn) http://identifiers.org/clinvar/381677 ^@ NM_003494.3(DYSF):c.5908C>T (p.Pro1970Ser) http://identifiers.org/clinvar/378166 ^@ NM_000179.2(MSH6):c.1395A>T (p.Ala465=) http://identifiers.org/clinvar/390150 ^@ NM_005911.5(MAT2A):c.952-20C>G http://identifiers.org/clinvar/391050 ^@ NM_003242.5(TGFBR2):c.1128G>A (p.Val376=) http://identifiers.org/clinvar/390000 ^@ NM_000532.4(PCCB):c.24G>T (p.Ala8=) http://identifiers.org/clinvar/390100 ^@ NM_015141.3(GPD1L):c.828C>T (p.Ala276=) http://identifiers.org/clinvar/385822 ^@ NM_001148.4(ANK2):c.11126C>T (p.Pro3709Leu) http://identifiers.org/clinvar/386322 ^@ NM_000179.2(MSH6):c.3591T>C (p.Thr1197=) http://identifiers.org/clinvar/384772 ^@ NM_033109.4(PNPT1):c.2149-18T>A http://identifiers.org/clinvar/390500 ^@ NM_001148.4(ANK2):c.1613C>T (p.Ala538Val) http://identifiers.org/clinvar/386222 ^@ NM_001148.4(ANK2):c.1746C>T (p.Leu582=) http://identifiers.org/clinvar/391989 ^@ NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) http://identifiers.org/clinvar/387711 ^@ NM_000027.3(AGA):c.965C>T (p.Thr322Ile) http://identifiers.org/clinvar/382379 ^@ NM_181705.3(LYRM7):c.163-16T>C http://identifiers.org/clinvar/390350 ^@ NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) http://identifiers.org/clinvar/392889 ^@ NM_001369.2(DNAH5):c.5807C>T (p.Thr1936Ile) http://identifiers.org/clinvar/387811 ^@ NM_032446.2(MEGF10):c.1500G>A (p.Gln500=) http://identifiers.org/clinvar/387211 ^@ NM_024577.3(SH3TC2):c.2873-4T>A http://identifiers.org/clinvar/390750 ^@ NM_003242.5(TGFBR2):c.94+16308T>C http://identifiers.org/clinvar/392489 ^@ NM_004168.3(SDHA):c.1664-13T>C http://identifiers.org/clinvar/388111 ^@ NM_005051.2(QARS):c.2151+11G>T http://identifiers.org/clinvar/393239 ^@ NM_000434.3(NEU1):c.644T>C (p.Leu215Pro) http://identifiers.org/clinvar/392989 ^@ NM_002290.4(LAMA4):c.1336+1G>A http://identifiers.org/clinvar/390800 ^@ NM_033071.3(SYNE1):c.25102+17C>T http://identifiers.org/clinvar/384822 ^@ NM_013352.3(DSE):c.711G>C (p.Leu237=) http://identifiers.org/clinvar/392389 ^@ NM_033071.3(SYNE1):c.25102+8C>T http://identifiers.org/clinvar/390300 ^@ NM_005045.3(RELN):c.10101C>T (p.Asn3367=) http://identifiers.org/clinvar/390200 ^@ NM_017946.3(FKBP14):c.330C>T (p.Gly110=) http://identifiers.org/clinvar/387261 ^@ NM_014324.5(AMACR):c.247+8C>G http://identifiers.org/clinvar/385922 ^@ NM_015570.3(AUTS2):c.118G>A (p.Ala40Thr) http://identifiers.org/clinvar/388411 ^@ NM_013391.3(DMGDH):c.2385+12G>C http://identifiers.org/clinvar/382128 ^@ NM_003640.4(IKBKAP):c.2790T>C (p.Asn930=) http://identifiers.org/clinvar/393139 ^@ NM_023110.2(FGFR1):c.1660G>A (p.Asp554Asn) http://identifiers.org/clinvar/378066 ^@ NM_006059.3(LAMC3):c.977-11C>G http://identifiers.org/clinvar/383782 ^@ NM_001851.4(COL9A1):c.1030-20G>T http://identifiers.org/clinvar/387911 ^@ NM_033087.3(ALG2):c.1038G>A (p.Ser346=) http://identifiers.org/clinvar/378266 ^@ NM_006393.2(NEBL):c.2346+19A>G http://identifiers.org/clinvar/133014 ^@ NM_000540.2(RYR1):c.11547G>A (p.Gln3849=) http://identifiers.org/clinvar/133064 ^@ NM_000540.2(RYR1):c.1440+74G>A http://identifiers.org/clinvar/133114 ^@ NM_000540.2(RYR1):c.2223C>T (p.Asp741=) http://identifiers.org/clinvar/133456 ^@ NM_001014432.1(AKT1):c.225C>G (p.Ile75Met) http://identifiers.org/clinvar/133506 ^@ NM_001127511.2(APC):c.119G>C (p.Ser40Thr) http://identifiers.org/clinvar/133557 ^@ NM_152641.3(ARID2):c.28C>A (p.Pro10Thr) http://identifiers.org/clinvar/133607 ^@ NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) http://identifiers.org/clinvar/134454 ^@ NM_023067.3(FOXL2):c.1045C>G (p.Arg349Gly) http://identifiers.org/clinvar/134504 ^@ NM_000545.6(HNF1A):c.210C>T (p.Ser70=) http://identifiers.org/clinvar/134554 ^@ NM_004972.3(JAK2):c.2882G>C (p.Cys961Ser) http://identifiers.org/clinvar/134604 ^@ NM_002253.2(KDR):c.1493A>T (p.Glu498Val) http://identifiers.org/clinvar/134655 ^@ NM_001127500.2(MET):c.1972G>A (p.Val658Ile) http://identifiers.org/clinvar/134707 ^@ NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) http://identifiers.org/clinvar/134757 ^@ NM_170606.2(KMT2C):c.5587C>G (p.Pro1863Ala) http://identifiers.org/clinvar/134807 ^@ NM_170606.2(KMT2C):c.11493T>G (p.Phe3831Leu) http://identifiers.org/clinvar/134860 ^@ NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) http://identifiers.org/clinvar/134911 ^@ NM_017617.4(NOTCH1):c.2080G>A (p.Glu694Lys) http://identifiers.org/clinvar/134961 ^@ NM_024408.3(NOTCH2):c.2042T>A (p.Ile681Asn) http://identifiers.org/clinvar/135011 ^@ NM_018313.4(PBRM1):c.736C>A (p.His246Asn) http://identifiers.org/clinvar/135061 ^@ NM_000534.4(PMS1):c.2058T>G (p.Ile686Met) http://identifiers.org/clinvar/135112 ^@ NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) http://identifiers.org/clinvar/135164 ^@ NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) http://identifiers.org/clinvar/135194 ^@ NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) http://identifiers.org/clinvar/135244 ^@ NM_005359.5(SMAD4):c.880A>G (p.Met294Val) http://identifiers.org/clinvar/135295 ^@ NM_001127208.2(TET2):c.4817G>C (p.Gly1606Ala) http://identifiers.org/clinvar/135345 ^@ NM_006290.3(TNFAIP3):c.1939A>C (p.Thr647Pro) http://identifiers.org/clinvar/135396 ^@ NM_000369.2(TSHR):c.2232C>G (p.Asn744Lys) http://identifiers.org/clinvar/135446 ^@ NM_000553.4(WRN):c.587G>A (p.Arg196His) http://identifiers.org/clinvar/135496 ^@ NM_005089.3(ZRSR2):c.283G>A (p.Ala95Thr) http://identifiers.org/clinvar/135546 ^@ NM_025133.4(FBXO11):c.1975+50_1975+52del http://identifiers.org/clinvar/135610 ^@ NM_002136.3(HNRNPA1):c.937A>G (p.Ser313Gly) http://identifiers.org/clinvar/135681 ^@ NM_000890.3(KCNJ5):c.736G>A (p.Glu246Lys) http://identifiers.org/clinvar/135732 ^@ NM_000051.3(ATM):c.1272T>C (p.Pro424=) http://identifiers.org/clinvar/135785 ^@ NM_000051.3(ATM):c.8730C>G (p.Leu2910=) http://identifiers.org/clinvar/135841 ^@ NM_000179.2(MSH6):c.3259C>G (p.Pro1087Ala) http://identifiers.org/clinvar/135891 ^@ NM_000264.3(PTCH1):c.3435C>T (p.Phe1145=) http://identifiers.org/clinvar/135941 ^@ NM_000535.6(PMS2):c.1936A>C (p.Arg646=) http://identifiers.org/clinvar/135993 ^@ NM_001128425.1(MUTYH):c.984C>T (p.Asp328=) http://identifiers.org/clinvar/136043 ^@ NM_002485.4(NBN):c.2220T>C (p.Ala740=) http://identifiers.org/clinvar/136094 ^@ NM_020975.4(RET):c.1095G>A (p.Ser365=) http://identifiers.org/clinvar/136144 ^@ NM_032043.2(BRIP1):c.1629-3T>C http://identifiers.org/clinvar/136204 ^@ NM_130838.1(UBE3A):c.635A>T (p.Asp212Val) http://identifiers.org/clinvar/185996 ^@ NM_007294.3(BRCA1):c.5429T>C (p.Val1810Ala) http://identifiers.org/clinvar/186246 ^@ NM_007294.3(BRCA1):c.3768A>G (p.Thr1256=) http://identifiers.org/clinvar/187637 ^@ NM_007294.3(BRCA1):c.3626T>G (p.Leu1209Ter) http://identifiers.org/clinvar/185046 ^@ NM_007294.3(BRCA1):c.1617G>A (p.Thr539=) http://identifiers.org/clinvar/184007 ^@ NM_058216.2(RAD51C):c.319C>T (p.Leu107=) http://identifiers.org/clinvar/183856 ^@ NM_007194.3(CHEK2):c.1392G>A (p.Lys464=) http://identifiers.org/clinvar/187791 ^@ NM_005215.3(DCC):c.2000G>A (p.Arg667His) http://identifiers.org/clinvar/187870 ^@ NM_005957.4(MTHFR):c.244C>T (p.Arg82Trp) http://identifiers.org/clinvar/187920 ^@ NM_004409.4(DMPK):c.*224_*226[132] http://identifiers.org/clinvar/187970 ^@ NM_004409.4(DMPK):c.*224_*226[373] http://identifiers.org/clinvar/188020 ^@ NM_004409.4(DMPK):c.*224_*226[68] http://identifiers.org/clinvar/188070 ^@ NM_002354.2(EPCAM):c.859-?_*(415_?)del http://identifiers.org/clinvar/188121 ^@ NM_000179.2(MSH6):c.1447G>C (p.Val483Leu) http://identifiers.org/clinvar/188223 ^@ NM_000038.5(APC):c.2240C>T (p.Ser747Leu) http://identifiers.org/clinvar/188277 ^@ NM_014846.3(WASHC5):c.3319G>A (p.Val1107Met) http://identifiers.org/clinvar/188329 ^@ NM_000051.3(ATM):c.548A>C (p.His183Pro) http://identifiers.org/clinvar/188172 ^@ NM_024675.3(PALB2):c.2920_2923delAAGA (p.Lys974Glyfs) http://identifiers.org/clinvar/188383 ^@ NM_000135.2(FANCA):c.2839dupT (p.Ser947Phefs) http://identifiers.org/clinvar/188690 ^@ NM_001001430.2(TNNT2):c.795A>C (p.Arg265=) http://identifiers.org/clinvar/188590 ^@ NM_000256.3(MYBPC3):c.3763delG (p.Ala1255Profs) http://identifiers.org/clinvar/188540 ^@ NM_000256.3(MYBPC3):c.927-28C>T http://identifiers.org/clinvar/188490 ^@ NM_001110219.2(GJB6):c.339T>A (p.Asn113Lys) http://identifiers.org/clinvar/188440 ^@ NM_000059.3(BRCA2):c.9281C>G (p.Ser3094Ter) http://identifiers.org/clinvar/188640 ^@ NM_000257.3(MYH7):c.5017A>T (p.Ile1673Phe) http://identifiers.org/clinvar/188740 ^@ NM_000228.2(LAMB3):c.29-2A>G http://identifiers.org/clinvar/188891 ^@ NM_000030.2(AGXT):c.322T>C (p.Trp108Arg) http://identifiers.org/clinvar/188840 ^@ NM_000543.4(SMPD1):c.96G>A (p.Trp32Ter) http://identifiers.org/clinvar/188790 ^@ NM_000057.3(BLM):c.2250_2251insAAAT (p.Leu751Lysfs) http://identifiers.org/clinvar/190005 ^@ NM_001165963.1(SCN1A):c.4934G>C (p.Arg1645Pro) http://identifiers.org/clinvar/189905 ^@ NM_001165963.1(SCN1A):c.2985T>G (p.Phe995Leu) http://identifiers.org/clinvar/189955 ^@ NM_001165963.1(SCN1A):c.1096_1115del20 (p.Asp366Phefs) http://identifiers.org/clinvar/190126 ^@ NM_014444.4(TUBGCP4):c.298delT (p.Tyr100Ilefs) http://identifiers.org/clinvar/242608 ^@ NM_000426.3(LAMA2):c.2461A>C (p.Thr821Pro) http://identifiers.org/clinvar/229257 ^@ NM_000441.1(SLC26A4):c.2317G>A (p.Glu773Lys) http://identifiers.org/clinvar/228557 ^@ NM_004403.2(DFNA5):c.212-6T>A http://identifiers.org/clinvar/228457 ^@ NM_004281.3(BAG3):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/228507 ^@ NM_022124.5(CDH23):c.9283A>G (p.Lys3095Glu) http://identifiers.org/clinvar/229307 ^@ NM_005422.2(TECTA):c.613G>C (p.Val205Leu) http://identifiers.org/clinvar/229607 ^@ NM_153676.3(USH1C):c.379G>A (p.Gly127Arg) http://identifiers.org/clinvar/229107 ^@ NM_001277269.1(OTOG):c.8074G>A (p.Glu2692Lys) http://identifiers.org/clinvar/229007 ^@ NM_000260.3(MYO7A):c.5246G>A (p.Arg1749Gln) http://identifiers.org/clinvar/228907 ^@ NM_000257.3(MYH7):c.3138G>A (p.Met1046Ile) http://identifiers.org/clinvar/228757 ^@ NM_001130089.1(KARS):c.1569A>G (p.Ile523Met) http://identifiers.org/clinvar/228957 ^@ NM_016239.3(MYO15A):c.4987G>A (p.Asp1663Asn) http://identifiers.org/clinvar/228807 ^@ NM_001145472.2(LOXHD1):c.1756G>A (p.Gly586Ser) http://identifiers.org/clinvar/229357 ^@ NM_001039141.2(TRIOBP):c.5167C>A (p.Gln1723Lys) http://identifiers.org/clinvar/228657 ^@ NM_001399.4(EDA):c.1001G>C (p.Arg334Pro) http://identifiers.org/clinvar/234301 ^@ NM_004895.4(NLRP3):c.1711G>A (p.Gly571Arg) http://identifiers.org/clinvar/234473 ^@ NM_000314.6(PTEN):c.-1202G>A http://identifiers.org/clinvar/234423 ^@ NM_001065.3(TNFRSF1A):c.596T>C (p.Ile199Thr) http://identifiers.org/clinvar/234575 ^@ NM_000059.3(BRCA2):c.3848T>C (p.Val1283Ala) http://identifiers.org/clinvar/234524 ^@ NM_000059.3(BRCA2):c.4651C>T (p.Gln1551Ter) http://identifiers.org/clinvar/234353 ^@ NM_000243.2(MEFV):c.439C>G (p.Pro147Ala) http://identifiers.org/clinvar/233638 ^@ NM_001128425.1(MUTYH):c.1219G>A (p.Val407Met) http://identifiers.org/clinvar/230848 ^@ NM_001128425.1(MUTYH):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/233941 ^@ NM_000465.3(BARD1):c.2215T>G (p.Tyr739Asp) http://identifiers.org/clinvar/231498 ^@ NM_000465.3(BARD1):c.490C>G (p.Gln164Glu) http://identifiers.org/clinvar/229809 ^@ NM_000251.2(MSH2):c.2680dupA (p.Met894Asnfs) http://identifiers.org/clinvar/234091 ^@ NM_000249.3(MLH1):c.1028A>G (p.Tyr343Cys) http://identifiers.org/clinvar/231598 ^@ NM_000249.3(MLH1):c.1277A>T (p.Gln426Leu) http://identifiers.org/clinvar/234041 ^@ NM_000249.3(MLH1):c.1940T>C (p.Val647Ala) http://identifiers.org/clinvar/233688 ^@ NM_000038.5(APC):c.187_189delTCT (p.Ser63del) http://identifiers.org/clinvar/233488 ^@ NM_000038.5(APC):c.875T>A (p.Leu292Ter) http://identifiers.org/clinvar/264440 ^@ NM_005477.2(HCN4):c.2730C>A (p.Phe910Leu) http://identifiers.org/clinvar/264340 ^@ NM_024422.4(DSC2):c.1521-1G>A http://identifiers.org/clinvar/264490 ^@ NM_001943.4(DSG2):c.1159C>G (p.His387Asp) http://identifiers.org/clinvar/264640 ^@ NM_176787.4(PIGN):c.1674+1G>C http://identifiers.org/clinvar/264704 ^@ NM_145331.2(MAP3K7):c.148_150delGTT (p.Val50del) http://identifiers.org/clinvar/264755 ^@ NM_001242896.1(DEPDC5):c.1265G>A (p.Arg422Gln) http://identifiers.org/clinvar/264860 ^@ NM_000059.3(BRCA2):c.6842-1122C>G http://identifiers.org/clinvar/264960 ^@ NM_000059.3(BRCA2):c.7805+758C>G http://identifiers.org/clinvar/264810 ^@ NM_007294.3(BRCA1):c.5194-2912T>C http://identifiers.org/clinvar/265742 ^@ NM_000902.3(MME):c.466delC (p.Pro156Leufs) http://identifiers.org/clinvar/265839 ^@ NM_012343.3(NNT):c.644T>C (p.Phe215Ser) http://identifiers.org/clinvar/265949 ^@ NM_174936.3(PCSK9):c.1863+6G>A http://identifiers.org/clinvar/265899 ^@ NM_000527.4(LDLR):c.618_638del21 (p.Gly207_Ser213del) http://identifiers.org/clinvar/266004 ^@ NM_000214.2(JAG1):c.2342dupA (p.Asn782Glufs) http://identifiers.org/clinvar/266631 ^@ NM_000059.3(BRCA2):c.1376delT (p.Leu459Terfs) http://identifiers.org/clinvar/266681 ^@ NM_000059.3(BRCA2):c.2147dupA (p.Cys717Valfs) http://identifiers.org/clinvar/266731 ^@ NM_000059.3(BRCA2):c.2983G>T (p.Gly995Ter) http://identifiers.org/clinvar/266781 ^@ NM_000059.3(BRCA2):c.3920_3941del22 (p.Glu1307Glyfs) http://identifiers.org/clinvar/266831 ^@ NM_000059.3(BRCA2):c.4774A>T (p.Lys1592Ter) http://identifiers.org/clinvar/266881 ^@ NM_000059.3(BRCA2):c.5554_5560delGTTTGTG (p.Val1852Phefs) http://identifiers.org/clinvar/266931 ^@ NM_000059.3(BRCA2):c.6244G>T (p.Glu2082Ter) http://identifiers.org/clinvar/266981 ^@ NM_000059.3(BRCA2):c.7006dupC (p.Arg2336Profs) http://identifiers.org/clinvar/267031 ^@ NM_000059.3(BRCA2):c.7668_7669insA (p.Ala2557Serfs) http://identifiers.org/clinvar/266481 ^@ NM_007294.3(BRCA1):c.4566C>G (p.Tyr1522Ter) http://identifiers.org/clinvar/266431 ^@ NM_007294.3(BRCA1):c.4036delG (p.Glu1346Lysfs) http://identifiers.org/clinvar/266381 ^@ NM_007294.3(BRCA1):c.3534delC (p.Ser1178Argfs) http://identifiers.org/clinvar/266281 ^@ NM_007294.3(BRCA1):c.2552_2553dupAA (p.Leu852Asnfs) http://identifiers.org/clinvar/266231 ^@ NM_007294.3(BRCA1):c.2188_2195delGAAAAAGAinsAAAAAGG (p.Glu730Lysfs) http://identifiers.org/clinvar/266181 ^@ NM_007294.3(BRCA1):c.1693G>T (p.Glu565Ter) http://identifiers.org/clinvar/266131 ^@ NM_007294.3(BRCA1):c.1017_1018insA (p.Val340Serfs) http://identifiers.org/clinvar/266581 ^@ NM_007294.3(BRCA1):c.814G>T (p.Glu272Ter) http://identifiers.org/clinvar/266531 ^@ NM_007294.3(BRCA1):c.518delC (p.Pro173Leufs) http://identifiers.org/clinvar/266331 ^@ NM_007294.3(BRCA1):c.303T>A (p.Tyr101Ter) http://identifiers.org/clinvar/279603 ^@ NM_003482.3(KMT2D):c.11770C>T (p.Gln3924Ter) http://identifiers.org/clinvar/280584 ^@ NM_004974.3(KCNA2):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/290910 ^@ NM_004006.2(DMD):c.8691C>A (p.Ala2897=) http://identifiers.org/clinvar/290960 ^@ NM_000435.2(NOTCH3):c.1747G>A (p.Val583Met) http://identifiers.org/clinvar/291010 ^@ NM_153818.1(PEX10):c.290_291delCAinsTG (p.Thr97Met) http://identifiers.org/clinvar/291060 ^@ NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) http://identifiers.org/clinvar/291110 ^@ NM_004369.3(COL6A3):c.4844C>A (p.Pro1615His) http://identifiers.org/clinvar/291161 ^@ NM_012310.4(KIF4A):c.386A>G (p.Lys129Arg) http://identifiers.org/clinvar/291211 ^@ NM_004369.3(COL6A3):c.1131C>T (p.Phe377=) http://identifiers.org/clinvar/291261 ^@ NM_000466.2(PEX1):c.2926+8T>C http://identifiers.org/clinvar/291376 ^@ NM_001918.3(DBT):c.*9058C>T http://identifiers.org/clinvar/291426 ^@ NM_001918.3(DBT):c.*3187C>G http://identifiers.org/clinvar/291476 ^@ NM_001854.3(COL11A1):c.*1203G>A http://identifiers.org/clinvar/291526 ^@ NM_001854.3(COL11A1):c.2020C>T (p.Pro674Ser) http://identifiers.org/clinvar/291576 ^@ NM_015074.3(KIF1B):c.3929G>A (p.Arg1310His) http://identifiers.org/clinvar/294917 ^@ NM_003465.2(CHIT1):c.1155_1156+2delGAGT http://identifiers.org/clinvar/295067 ^@ NM_000228.2(LAMB3):c.3204C>T (p.Ser1068=) http://identifiers.org/clinvar/295117 ^@ NM_000228.2(LAMB3):c.1016A>G (p.Tyr339Cys) http://identifiers.org/clinvar/344559 ^@ NM_000461.4(THRB):c.*4205A>G http://identifiers.org/clinvar/343709 ^@ NM_032383.4(HPS3):c.1821C>G (p.Ile607Met) http://identifiers.org/clinvar/336480 ^@ NM_000145.3(FSHR):c.1596G>A (p.Met532Ile) http://identifiers.org/clinvar/336530 ^@ NM_001135659.2(NRXN1):c.*878_*879dupTA http://identifiers.org/clinvar/343759 ^@ NM_000096.3(CP):c.2286-12T>G http://identifiers.org/clinvar/336580 ^@ NM_001135659.2(NRXN1):c.-1122C>T http://identifiers.org/clinvar/343859 ^@ NM_004733.3(SLC33A1):c.*1200T>C http://identifiers.org/clinvar/336323 ^@ NM_001430.4(EPAS1):c.*1878T>C http://identifiers.org/clinvar/344059 ^@ NM_001041.3(SI):c.1146+13A>C http://identifiers.org/clinvar/344209 ^@ NM_031955.5(SPATA16):c.1143A>G (p.Gln381=) http://identifiers.org/clinvar/344259 ^@ NM_181426.1(CCDC39):c.2800G>A (p.Val934Ile) http://identifiers.org/clinvar/336980 ^@ NM_003494.3(DYSF):c.*78C>T http://identifiers.org/clinvar/344409 ^@ NM_003722.4(TP63):c.*1181T>C http://identifiers.org/clinvar/344459 ^@ NM_006580.3(CLDN16):c.*794T>C http://identifiers.org/clinvar/336780 ^@ NM_002056.3(GFPT1):c.*6366T>C http://identifiers.org/clinvar/336830 ^@ NM_002056.3(GFPT1):c.*2510delA http://identifiers.org/clinvar/344509 ^@ NM_015560.2(OPA1):c.*2241A>G http://identifiers.org/clinvar/336880 ^@ NM_002056.3(GFPT1):c.224-12C>T http://identifiers.org/clinvar/345209 ^@ NM_016006.4(ABHD5):c.-65G>C http://identifiers.org/clinvar/346348 ^@ NM_001457.3(FLNB):c.5134G>A (p.Val1712Met) http://identifiers.org/clinvar/346698 ^@ NM_002942.4(ROBO2):c.2329-12C>A http://identifiers.org/clinvar/346898 ^@ NM_000313.3(PROS1):c.-116C>T http://identifiers.org/clinvar/346948 ^@ NM_177976.3(ARL6):c.*470G>A http://identifiers.org/clinvar/346998 ^@ NM_000097.5(CPOX):c.-43G>C http://identifiers.org/clinvar/347098 ^@ NM_005908.3(MANBA):c.479G>A (p.Arg160His) http://identifiers.org/clinvar/347148 ^@ NM_000204.4(CFI):c.1581C>T (p.Gly527=) http://identifiers.org/clinvar/347348 ^@ NM_001148.4(ANK2):c.11652A>G (p.Glu3884=) http://identifiers.org/clinvar/347398 ^@ NM_003619.3(PRSS12):c.1512T>C (p.Asp504=) http://identifiers.org/clinvar/346298 ^@ NM_001457.3(FLNB):c.233A>G (p.Glu78Gly) http://identifiers.org/clinvar/343459 ^@ NM_000532.4(PCCB):c.184-12G>T http://identifiers.org/clinvar/343509 ^@ NM_024334.2(TMEM43):c.1120_1121delCT (p.Leu374Valfs) http://identifiers.org/clinvar/346548 ^@ NM_032682.5(FOXP1):c.*4029delA http://identifiers.org/clinvar/343409 ^@ NM_003571.3(BFSP2):c.567A>G (p.Lys189=) http://identifiers.org/clinvar/346648 ^@ NM_032682.5(FOXP1):c.1147-9dupT http://identifiers.org/clinvar/346748 ^@ NM_002942.4(ROBO2):c.*2196G>A http://identifiers.org/clinvar/343559 ^@ NM_004628.4(XPC):c.*133G>A http://identifiers.org/clinvar/348337 ^@ NM_207352.3(CYP4V2):c.*1053C>T http://identifiers.org/clinvar/343609 ^@ NM_001184.3(ATR):c.3642T>C (p.His1214=) http://identifiers.org/clinvar/348387 ^@ NM_000128.3(F11):c.*584A>T http://identifiers.org/clinvar/361953 ^@ NM_003235.4(TG):c.3953A>G (p.Gln1318Arg) http://identifiers.org/clinvar/362053 ^@ NM_031466.7(TRAPPC9):c.*375C>T http://identifiers.org/clinvar/362203 ^@ NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) http://identifiers.org/clinvar/362303 ^@ NM_006765.3(TUSC3):c.-130C>G http://identifiers.org/clinvar/359204 ^@ NM_014141.5(CNTNAP2):c.*604_*607dupCTGA http://identifiers.org/clinvar/354725 ^@ NM_001491.2(GCNT2):c.*1074A>G http://identifiers.org/clinvar/359354 ^@ NM_016203.3(PRKAG2):c.-90G>T http://identifiers.org/clinvar/354775 ^@ NM_001242957.2(MAK):c.*905delT http://identifiers.org/clinvar/359504 ^@ NM_001101426.3(ISPD):c.*3123C>T http://identifiers.org/clinvar/359554 ^@ NM_001101426.3(ISPD):c.*1848C>T http://identifiers.org/clinvar/355126 ^@ NM_001010892.2(RSPH4A):c.*46_*47dupAC http://identifiers.org/clinvar/359654 ^@ NM_001277115.1(DNAH11):c.8145C>T (p.Asn2715=) http://identifiers.org/clinvar/355276 ^@ NM_000426.3(LAMA2):c.5179G>C (p.Glu1727Gln) http://identifiers.org/clinvar/363742 ^@ NM_018972.2(GDAP1):c.*1429A>G http://identifiers.org/clinvar/363792 ^@ NM_000318.2(PEX2):c.*1602A>G http://identifiers.org/clinvar/359854 ^@ NM_004403.2(DFNA5):c.528C>T (p.Val176=) http://identifiers.org/clinvar/359904 ^@ NM_018947.5(CYCS):c.*2502T>C http://identifiers.org/clinvar/355376 ^@ NM_006208.2(ENPP1):c.*1038T>A http://identifiers.org/clinvar/364042 ^@ NM_001001557.3(GDF6):c.1304C>T (p.Ala435Val) http://identifiers.org/clinvar/361043 ^@ NM_017890.4(VPS13B):c.1843+10T>C http://identifiers.org/clinvar/360054 ^@ NM_198428.2(BBS9):c.-271G>A http://identifiers.org/clinvar/360154 ^@ NM_133468.4(BMPER):c.*2277T>G http://identifiers.org/clinvar/360204 ^@ NM_000168.5(GLI3):c.*741A>G http://identifiers.org/clinvar/364742 ^@ NM_018249.5(CDK5RAP2):c.*47C>T http://identifiers.org/clinvar/364942 ^@ NM_002316.3(LMX1B):c.*1713C>T http://identifiers.org/clinvar/356315 ^@ NM_006929.4(SKIV2L):c.422C>T (p.Ala141Val) http://identifiers.org/clinvar/356465 ^@ NM_003322.5(TULP1):c.*31C>T http://identifiers.org/clinvar/356515 ^@ NM_182548.3(LHFPL5):c.*475C>T http://identifiers.org/clinvar/356615 ^@ NM_005943.5(MOCS1):c.*1771G>A http://identifiers.org/clinvar/356715 ^@ NM_002098.5(GUCA1B):c.*581G>A http://identifiers.org/clinvar/361243 ^@ NM_178857.5(RP1L1):c.5646G>T (p.Glu1882Asp) http://identifiers.org/clinvar/356565 ^@ NM_001145717.1(PNPLA1):c.813T>A (p.Ile271=) http://identifiers.org/clinvar/356765 ^@ NM_000322.4(PRPH2):c.*483_*484dupTT http://identifiers.org/clinvar/361553 ^@ NM_014112.4(TRPS1):c.*3113G>A http://identifiers.org/clinvar/361603 ^@ NM_014112.4(TRPS1):c.*338delC http://identifiers.org/clinvar/361703 ^@ NM_002546.3(TNFRSF11B):c.-257G>T http://identifiers.org/clinvar/357065 ^@ NM_020745.3(AARS2):c.1753-14C>G http://identifiers.org/clinvar/357165 ^@ NM_012120.2(CD2AP):c.400A>G (p.Ile134Val) http://identifiers.org/clinvar/357215 ^@ NM_012120.2(CD2AP):c.*866C>T http://identifiers.org/clinvar/303184 ^@ NM_018400.3(SCN3B):c.*696A>G http://identifiers.org/clinvar/311532 ^@ NM_014363.5(SACS):c.6577G>A (p.Asp2193Asn) http://identifiers.org/clinvar/367471 ^@ NM_001698.2(AUH):c.*432C>T http://identifiers.org/clinvar/311582 ^@ NM_014363.5(SACS):c.-489G>A http://identifiers.org/clinvar/367521 ^@ NM_004560.3(ROR2):c.-91G>A http://identifiers.org/clinvar/311782 ^@ NM_000538.3(RFXAP):c.15T>C (p.Gly5=) http://identifiers.org/clinvar/367671 ^@ NM_000264.3(PTCH1):c.1602+15_1602+17delAAA http://identifiers.org/clinvar/311982 ^@ NM_207361.5(FREM2):c.4796A>C (p.Glu1599Ala) http://identifiers.org/clinvar/364092 ^@ NM_000380.3(XPA):c.-66T>G http://identifiers.org/clinvar/364142 ^@ NM_004612.3(TGFBR1):c.*2106G>T http://identifiers.org/clinvar/364192 ^@ NM_004612.3(TGFBR1):c.*4804dupT http://identifiers.org/clinvar/367571 ^@ NM_000136.2(FANCC):c.*2305G>A http://identifiers.org/clinvar/312482 ^@ NM_052910.2(SLITRK1):c.*1160G>A http://identifiers.org/clinvar/304323 ^@ NM_000280.4(PAX6):c.*2551C>T http://identifiers.org/clinvar/312632 ^@ NM_001376.4(DYNC1H1):c.5424A>G (p.Leu1808=) http://identifiers.org/clinvar/298706 ^@ NM_000494.3(COL17A1):c.2715C>T (p.Ser905=) http://identifiers.org/clinvar/304673 ^@ NM_021926.3(ALX4):c.*973G>A http://identifiers.org/clinvar/298756 ^@ NM_000494.3(COL17A1):c.53-10C>T http://identifiers.org/clinvar/298806 ^@ NM_001134363.2(RBM20):c.*234T>C http://identifiers.org/clinvar/313571 ^@ NM_182914.2(SYNE2):c.12370G>T (p.Val4124Leu) http://identifiers.org/clinvar/313671 ^@ NM_182914.2(SYNE2):c.20721A>G (p.Thr6907=) http://identifiers.org/clinvar/313771 ^@ NM_000347.5(SPTB):c.1048G>A (p.Val350Met) http://identifiers.org/clinvar/305073 ^@ NM_001173990.2(TMEM216):c.-135T>C http://identifiers.org/clinvar/313971 ^@ NM_000021.3(PSEN1):c.*1726_*1730dupTATGA http://identifiers.org/clinvar/299645 ^@ NM_017433.4(MYO3A):c.332T>C (p.Leu111Pro) http://identifiers.org/clinvar/314071 ^@ NM_031427.3(DNAL1):c.*3110_*3111dupCC http://identifiers.org/clinvar/314271 ^@ NM_000428.2(LTBP2):c.4621G>A (p.Glu1541Lys) http://identifiers.org/clinvar/314321 ^@ NM_000428.2(LTBP2):c.-46G>C http://identifiers.org/clinvar/299895 ^@ NM_020975.4(RET):c.1879+14G>A http://identifiers.org/clinvar/299945 ^@ NM_020975.4(RET):c.*1870C>T http://identifiers.org/clinvar/314521 ^@ NM_013382.5(POMT2):c.*1724C>T http://identifiers.org/clinvar/314571 ^@ NM_004863.3(SPTLC2):c.*6080C>G http://identifiers.org/clinvar/300045 ^@ NM_000124.3(ERCC6):c.3594A>G (p.Lys1198=) http://identifiers.org/clinvar/300095 ^@ NM_000124.3(ERCC6):c.379G>A (p.Val127Ile) http://identifiers.org/clinvar/299545 ^@ NM_001081.3(CUBN):c.349-9T>C http://identifiers.org/clinvar/314671 ^@ NM_004863.3(SPTLC2):c.1128G>A (p.Thr376=) http://identifiers.org/clinvar/314721 ^@ NM_000369.2(TSHR):c.*1620C>G http://identifiers.org/clinvar/299595 ^@ NM_201590.2(CACNB2):c.*618_*623delATATAT http://identifiers.org/clinvar/314821 ^@ NM_018319.3(TDP1):c.-21C>T http://identifiers.org/clinvar/300195 ^@ NM_033056.3(PCDH15):c.1590+15A>G http://identifiers.org/clinvar/299695 ^@ NM_014317.4(PDSS1):c.130-10G>T http://identifiers.org/clinvar/300245 ^@ NM_000417.2(IL2RA):c.*107C>T http://identifiers.org/clinvar/299745 ^@ NM_014915.2(ANKRD26):c.1635+9T>C http://identifiers.org/clinvar/299845 ^@ NM_021252.4(RAB18):c.*1502G>C http://identifiers.org/clinvar/300495 ^@ NM_022124.5(CDH23):c.*588delA http://identifiers.org/clinvar/300545 ^@ NM_002778.3(PSAP):c.-62A>G http://identifiers.org/clinvar/299995 ^@ NM_002900.2(RBP3):c.717C>T (p.Ala239=) http://identifiers.org/clinvar/300695 ^@ NM_016065.3(MRPS16):c.*1150G>A http://identifiers.org/clinvar/300795 ^@ NM_014000.2(VCL):c.2746-8C>T http://identifiers.org/clinvar/311032 ^@ NM_001845.5(COL4A1):c.3972C>T (p.Leu1324=) http://identifiers.org/clinvar/311082 ^@ NM_001845.5(COL4A1):c.280-12C>T http://identifiers.org/clinvar/309788 ^@ NM_002206.2(ITGA7):c.1680C>T (p.Thr560=) http://identifiers.org/clinvar/311482 ^@ NM_000231.2(SGCG):c.*53C>A http://identifiers.org/clinvar/311632 ^@ NM_018451.4(CENPJ):c.419A>C (p.Asp140Ala) http://identifiers.org/clinvar/311882 ^@ NM_001127217.2(SMAD9):c.*448_*452delGATGT http://identifiers.org/clinvar/337869 ^@ NM_000361.2(THBD):c.*508dupT http://identifiers.org/clinvar/312532 ^@ NM_005708.4(GPC6):c.-307T>A http://identifiers.org/clinvar/338169 ^@ NM_006892.3(DNMT3B):c.1557G>A (p.Gln519=) http://identifiers.org/clinvar/311132 ^@ NM_001846.3(COL4A2):c.1738G>A (p.Asp580Asn) http://identifiers.org/clinvar/312582 ^@ NM_005708.4(GPC6):c.*1474A>G http://identifiers.org/clinvar/319913 ^@ NM_000339.2(SLC12A3):c.2244G>A (p.Ser748=) http://identifiers.org/clinvar/320013 ^@ NM_020312.3(COQ9):c.*134A>G http://identifiers.org/clinvar/320063 ^@ NM_001297.4(CNGB1):c.3340G>A (p.Ala1114Thr) http://identifiers.org/clinvar/320113 ^@ NM_001297.4(CNGB1):c.139G>A (p.Glu47Lys) http://identifiers.org/clinvar/320163 ^@ NM_001538.3(HSF4):c.-880G>C http://identifiers.org/clinvar/338820 ^@ NM_000782.4(CYP24A1):c.991-9G>A http://identifiers.org/clinvar/320313 ^@ NM_032382.4(COG8):c.931G>A (p.Glu311Lys) http://identifiers.org/clinvar/339020 ^@ NM_004738.4(VAPB):c.*6238T>C http://identifiers.org/clinvar/320463 ^@ NM_024306.4(FA2H):c.*1188A>G http://identifiers.org/clinvar/311832 ^@ NM_001127217.2(SMAD9):c.*3171_*3176delAACATT http://identifiers.org/clinvar/311932 ^@ NM_207361.5(FREM2):c.-182G>A http://identifiers.org/clinvar/312032 ^@ NM_207361.5(FREM2):c.8671+14A>G http://identifiers.org/clinvar/312082 ^@ NM_207361.5(FREM2):c.*3718A>G http://identifiers.org/clinvar/312182 ^@ NM_014252.3(SLC25A15):c.632C>T (p.Pro211Leu) http://identifiers.org/clinvar/312232 ^@ NM_003701.3(TNFSF11):c.254A>T (p.His85Leu) http://identifiers.org/clinvar/313921 ^@ NM_015346.3(ZFYVE26):c.773G>A (p.Arg258Gln) http://identifiers.org/clinvar/312382 ^@ NM_000053.3(ATP7B):c.3275C>T (p.Thr1092Met) http://identifiers.org/clinvar/314121 ^@ NM_031427.3(DNAL1):c.*6138T>G http://identifiers.org/clinvar/314221 ^@ NM_182894.2(VSX2):c.*1302G>A http://identifiers.org/clinvar/326894 ^@ NM_017653.3(DYM):c.1703G>A (p.Arg568Gln) http://identifiers.org/clinvar/327094 ^@ NM_001080467.2(MYO5B):c.-48C>G http://identifiers.org/clinvar/327244 ^@ NM_001083962.1(TCF4):c.*4319_*4320insGA http://identifiers.org/clinvar/368221 ^@ NM_004006.2(DMD):c.*1049T>C http://identifiers.org/clinvar/327394 ^@ NM_000140.3(FECH):c.*1453T>C http://identifiers.org/clinvar/327444 ^@ NM_005603.4(ATP8B1):c.*1509A>G http://identifiers.org/clinvar/368471 ^@ NM_000084.4(CLCN5):c.-205G>A http://identifiers.org/clinvar/327494 ^@ NM_005603.4(ATP8B1):c.340G>C (p.Glu114Gln) http://identifiers.org/clinvar/337769 ^@ NM_000214.2(JAG1):c.-375dupT http://identifiers.org/clinvar/337969 ^@ NM_014588.5(VSX1):c.174G>T (p.Pro58=) http://identifiers.org/clinvar/338469 ^@ NM_000457.4(HNF4A):c.*2366G>C http://identifiers.org/clinvar/338519 ^@ NM_000308.3(CTSA):c.-223G>A http://identifiers.org/clinvar/338569 ^@ NM_001250.5(CD40):c.-1T>C http://identifiers.org/clinvar/338669 ^@ NM_000311.4(PRNP):c.*1035T>G http://identifiers.org/clinvar/338719 ^@ NM_006420.2(ARFGEF2):c.*1138C>A http://identifiers.org/clinvar/338770 ^@ NM_020436.4(SALL4):c.2218C>G (p.Pro740Ala) http://identifiers.org/clinvar/338119 ^@ NM_015338.5(ASXL1):c.4603G>A (p.Val1535Ile) http://identifiers.org/clinvar/340409 ^@ NM_006657.2(FTCD):c.*55A>G http://identifiers.org/clinvar/340560 ^@ NM_014339.6(IL17RA):c.-27C>G http://identifiers.org/clinvar/340910 ^@ NM_003073.4(SMARCB1):c.-107A>G http://identifiers.org/clinvar/338920 ^@ NM_004738.4(VAPB):c.-229_-226dupGTGC http://identifiers.org/clinvar/339320 ^@ NM_001853.3(COL9A3):c.*356C>T http://identifiers.org/clinvar/339370 ^@ NM_025219.2(DNAJC5):c.*727C>A http://identifiers.org/clinvar/339470 ^@ NM_012469.3(PRPF6):c.1164A>G (p.Ala388=) http://identifiers.org/clinvar/385772 ^@ NM_020987.4(ANK3):c.7105G>T (p.Asp2369Tyr) http://identifiers.org/clinvar/390400 ^@ NM_018238.3(AGK):c.589-18A>G http://identifiers.org/clinvar/387961 ^@ NM_004092.3(ECHS1):c.88+16G>C http://identifiers.org/clinvar/388261 ^@ NM_000048.3(ASL):c.183C>T (p.Asp61=) http://identifiers.org/clinvar/381878 ^@ NM_001698.2(AUH):c.-28T>C http://identifiers.org/clinvar/381828 ^@ NM_000264.3(PTCH1):c.4172G>A (p.Arg1391Gln) http://identifiers.org/clinvar/392039 ^@ NM_201590.2(CACNB2):c.782+12A>G http://identifiers.org/clinvar/378370 ^@ NM_000445.4(PLEC):c.9976C>T (p.Arg3326Trp) http://identifiers.org/clinvar/381427 ^@ NM_024678.5(NARS2):c.252-3T>A http://identifiers.org/clinvar/391100 ^@ NM_000051.3(ATM):c.4110-18T>C http://identifiers.org/clinvar/382329 ^@ NM_000051.3(ATM):c.4833T>A (p.Leu1611=) http://identifiers.org/clinvar/391250 ^@ NM_006269.1(RP1):c.2570C>G (p.Ser857Ter) http://identifiers.org/clinvar/392289 ^@ NM_002485.4(NBN):c.117G>A (p.Gln39=) http://identifiers.org/clinvar/388361 ^@ NM_006231.3(POLE):c.2958A>G (p.Gln986=) http://identifiers.org/clinvar/383832 ^@ NM_003165.3(STXBP1):c.1722T>A (p.Thr574=) http://identifiers.org/clinvar/390850 ^@ NM_002206.2(ITGA7):c.708C>T (p.Pro236=) http://identifiers.org/clinvar/381928 ^@ NM_006231.3(POLE):c.2763C>T (p.Tyr921=) http://identifiers.org/clinvar/385272 ^@ NM_001376.4(DYNC1H1):c.11725T>C (p.Leu3909=) http://identifiers.org/clinvar/391300 ^@ NM_002471.3(MYH6):c.2293-19A>G http://identifiers.org/clinvar/382279 ^@ NM_014191.3(SCN8A):c.3024G>A (p.Val1008=) http://identifiers.org/clinvar/392089 ^@ NM_003239.4(TGFB3):c.77C>G (p.Thr26Ser) http://identifiers.org/clinvar/391200 ^@ NM_001005463.2(EBF3):c.370C>T (p.Gln124Ter) http://identifiers.org/clinvar/390650 ^@ NM_005902.3(SMAD3):c.608-15T>C http://identifiers.org/clinvar/388311 ^@ NM_000051.3(ATM):c.7630-4A>G http://identifiers.org/clinvar/386022 ^@ NM_020751.2(COG6):c.370-18A>G http://identifiers.org/clinvar/385472 ^@ NM_001376.4(DYNC1H1):c.7626C>T (p.Ser2542=) http://identifiers.org/clinvar/385872 ^@ NM_000548.4(TSC2):c.648+17C>A http://identifiers.org/clinvar/385172 ^@ NM_000218.2(KCNQ1):c.672G>A (p.Thr224=) http://identifiers.org/clinvar/389500 ^@ NM_000548.4(TSC2):c.759C>T (p.Cys253=) http://identifiers.org/clinvar/381377 ^@ NM_000391.3(TPP1):c.-20C>G http://identifiers.org/clinvar/387411 ^@ NM_173201.3(ATP2A1):c.1948G>A (p.Asp650Asn) http://identifiers.org/clinvar/390900 ^@ NM_000034.3(ALDOA):c.799+11C>T http://identifiers.org/clinvar/386372 ^@ NM_020778.4(ALPK3):c.175C>G (p.Arg59Gly) http://identifiers.org/clinvar/389950 ^@ NM_020778.4(ALPK3):c.5106-11A>T http://identifiers.org/clinvar/393039 ^@ NM_030962.3(SBF2):c.3574A>G (p.Thr1192Ala) http://identifiers.org/clinvar/390600 ^@ NM_004360.4(CDH1):c.1401C>A (p.Thr467=) http://identifiers.org/clinvar/382229 ^@ NM_022041.3(GAN):c.633+19A>G http://identifiers.org/clinvar/382178 ^@ NM_006231.3(POLE):c.-15G>A http://identifiers.org/clinvar/47437 ^@ NM_001256850.1(TTN):c.79538C>T (p.Pro26513Leu) http://identifiers.org/clinvar/47487 ^@ NM_133378.4(TTN):c.81548T>C (p.Ile27183Thr) http://identifiers.org/clinvar/47537 ^@ NM_133378.4(TTN):c.86197G>A (p.Val28733Ile) http://identifiers.org/clinvar/47587 ^@ NM_133378.4(TTN):c.90038G>T (p.Gly30013Val) http://identifiers.org/clinvar/47637 ^@ NM_133378.4(TTN):c.9369T>G (p.Asp3123Glu) http://identifiers.org/clinvar/47687 ^@ NM_133379.4(TTN):c.*265+213933G>A http://identifiers.org/clinvar/47737 ^@ NM_133379.4(TTN):c.11253A>G (p.Arg3751=) http://identifiers.org/clinvar/47787 ^@ NM_001256850.1(TTN):c.10361-5032C>T http://identifiers.org/clinvar/47837 ^@ NM_133379.4(TTN):c.*265+5374T>C http://identifiers.org/clinvar/47887 ^@ NM_144573.3(NEXN):c.1112C>T (p.Pro371Leu) http://identifiers.org/clinvar/158 ^@ NM_000274.3(OAT):c.1311G>C (p.Leu437Phe) http://identifiers.org/clinvar/204 ^@ NM_001194958.2(KCNJ18):c.429delC (p.Ile144Serfs) http://identifiers.org/clinvar/388 ^@ NM_000308.3(CTSA):c.1411A>G (p.Lys471Glu) http://identifiers.org/clinvar/420 ^@ NM_000290.3(PGAM2):c.268C>T (p.Arg90Trp) http://identifiers.org/clinvar/452 ^@ CPOX, IVS6, G-A, -1 http://identifiers.org/clinvar/461 ^@ NM_000097.5(CPOX):c.982C>T (p.Arg328Cys) http://identifiers.org/clinvar/579 ^@ NM_000277.1(PAH):c.977G>A (p.Trp326Ter) http://identifiers.org/clinvar/833 ^@ NM_000038.5(APC):c.4575_4576ins337 (p.?) http://identifiers.org/clinvar/856 ^@ NM_013319.2(UBIAD1):c.305A>G (p.Asn102Ser) http://identifiers.org/clinvar/1211 ^@ NM_000429.2(MAT1A):c.1006G>A (p.Gly336Arg) http://identifiers.org/clinvar/1262 ^@ NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) http://identifiers.org/clinvar/1307 ^@ NM_001174089.1(SLC4A11):c.1765C>T (p.Arg589Ter) http://identifiers.org/clinvar/1352 ^@ NM_001199922.1(SIAE):c.160A>G (p.Met54Val) http://identifiers.org/clinvar/1399 ^@ NM_153609.3(TMPRSS6):c.1904_1905dupGC (p.Lys636Alafs) http://identifiers.org/clinvar/1443 ^@ NM_000190.3(HMBS):c.77G>A (p.Arg26His) http://identifiers.org/clinvar/1489 ^@ NM_212550.4(BLOC1S3):c.448delC (p.Gln150Argfs) http://identifiers.org/clinvar/1534 ^@ NM_000237.2(LPL):c.1421C>G (p.Ser474Ter) http://identifiers.org/clinvar/1626 ^@ NM_000018.3(ACADVL):c.388_390delGAG (p.Glu130del) http://identifiers.org/clinvar/1674 ^@ NM_000785.3(CYP27B1):c.566A>G (p.Glu189Gly) http://identifiers.org/clinvar/1719 ^@ NM_001130161.2(STOX1):c.457T>C (p.Tyr153His) http://identifiers.org/clinvar/1768 ^@ NM_000251.2(MSH2):c.454delA (p.Met152Cysfs) http://identifiers.org/clinvar/1815 ^@ NM_152594.2(SPRED1):c.784A>T (p.Arg262Ter) http://identifiers.org/clinvar/1860 ^@ NM_022912.2(REEP1):c.183-2A>G http://identifiers.org/clinvar/1905 ^@ NM_000060.4(BTD):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/1950 ^@ NM_030957.3(ADAMTS10):c.2098G>T (p.Gly700Cys) http://identifiers.org/clinvar/1996 ^@ NM_199242.2(UNC13D):c.1828_1839delCGCGCTGTGCAG (p.Arg610_Gln613del) http://identifiers.org/clinvar/2085 ^@ NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp) http://identifiers.org/clinvar/2130 ^@ NM_005787.5(ALG3):c.211T>C (p.Trp71Arg) http://identifiers.org/clinvar/2178 ^@ ROBO3, 1-BP INS, 2310C http://identifiers.org/clinvar/2222 ^@ NM_000551.3(VHL):c.334T>C (p.Tyr112His) http://identifiers.org/clinvar/2268 ^@ NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) http://identifiers.org/clinvar/2313 ^@ NM_005609.3(PYGM):c.1827G>A (p.Lys609=) http://identifiers.org/clinvar/2359 ^@ NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) http://identifiers.org/clinvar/2404 ^@ NM_032409.2(PINK1):c.926G>A (p.Gly309Asp) http://identifiers.org/clinvar/10166 ^@ NM_000132.3(F8):c.311T>A (p.Val104Asp) http://identifiers.org/clinvar/10210 ^@ NM_000132.3(F8):c.1293G>T (p.Leu431Phe) http://identifiers.org/clinvar/10256 ^@ NM_000132.3(F8):c.4121_4124delTAGA (p.Ile1374Thrfs) http://identifiers.org/clinvar/10300 ^@ NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) http://identifiers.org/clinvar/10346 ^@ F8, EX16DEL http://identifiers.org/clinvar/10396 ^@ NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) http://identifiers.org/clinvar/10443 ^@ GJB1, 367G-T http://identifiers.org/clinvar/10491 ^@ NM_000202.7(IDS):c.1122C>T (p.Gly374=) http://identifiers.org/clinvar/10537 ^@ NM_000292.2(PHKA2):c.394C>T (p.His132Tyr) http://identifiers.org/clinvar/10582 ^@ NM_000133.3(F9):c.496A>T (p.Asn166Tyr) http://identifiers.org/clinvar/10627 ^@ NM_000133.3(F9):c.1328T>C (p.Ile443Thr) http://identifiers.org/clinvar/10673 ^@ FAM58A, IVS4, G-A, +1 http://identifiers.org/clinvar/10718 ^@ GLA, EX4DEL http://identifiers.org/clinvar/10763 ^@ NM_000169.2(GLA):c.888G>A (p.Met296Ile) http://identifiers.org/clinvar/10808 ^@ NM_033290.3(MID1):c.1877T>C (p.Leu626Pro) http://identifiers.org/clinvar/10853 ^@ NM_000054.4(AVPR2):c.310C>T (p.Arg104Cys) http://identifiers.org/clinvar/10944 ^@ NC_000023.11:g.(30700906_30707555)_(30728743_?)del http://identifiers.org/clinvar/11407 ^@ NM_014009.3(FOXP3):c.1189C>T (p.Arg397Trp) http://identifiers.org/clinvar/11457 ^@ NM_003639.4(IKBKG):c.1217A>T (p.Asp406Val) http://identifiers.org/clinvar/12868 ^@ NM_005633.3(SOS1):c.3248dupC (p.Arg1084Lysfs) http://identifiers.org/clinvar/12918 ^@ NM_000702.3(ATP1A2):c.2659T>C (p.Trp887Arg) http://identifiers.org/clinvar/12968 ^@ NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) http://identifiers.org/clinvar/13019 ^@ NM_000539.3(RHO):c.133T>C (p.Phe45Leu) http://identifiers.org/clinvar/13070 ^@ NM_000321.2(RB1):c.1960+2T>C http://identifiers.org/clinvar/13121 ^@ NM_183059.2(RD3):c.296+1G>A http://identifiers.org/clinvar/13172 ^@ NM_000322.4(PRPH2):c.732C>A (p.Asn244Lys) http://identifiers.org/clinvar/13223 ^@ BCHE Cynthiana http://identifiers.org/clinvar/13274 ^@ NM_000141.4(FGFR2):c.1021A>C (p.Thr341Pro) http://identifiers.org/clinvar/13325 ^@ NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) http://identifiers.org/clinvar/13375 ^@ PSAP, 2-BP DEL, 828GA http://identifiers.org/clinvar/13429 ^@ NM_000371.3(TTR):c.210T>G (p.Ser70Arg) http://identifiers.org/clinvar/13481 ^@ NM_000217.2(KCNA1):c.715C>A (p.Arg239Ser) http://identifiers.org/clinvar/13531 ^@ NM_000174.4(GP9):c.212T>C (p.Phe71Ser) http://identifiers.org/clinvar/36654 ^@ NM_033118.3(MYLK2):c.918C>T (p.Ala306=) http://identifiers.org/clinvar/36707 ^@ NM_002834.4(PTPN11):c.1380-14C>G http://identifiers.org/clinvar/36760 ^@ NM_198056.2(SCN5A):c.3511+10C>T http://identifiers.org/clinvar/36810 ^@ NM_000545.6(HNF1A):c.1720G= (p.Gly574=) http://identifiers.org/clinvar/36860 ^@ NM_003242.5(TGFBR2):c.1151A>G (p.Asn384Ser) http://identifiers.org/clinvar/36911 ^@ NM_000377.2(WAS):c.37C>T (p.Arg13Ter) http://identifiers.org/clinvar/37006 ^@ CAMTA1, 81-KB DEL, EX4 http://identifiers.org/clinvar/37086 ^@ NM_001135599.3(TGFB2):c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del) http://identifiers.org/clinvar/37202 ^@ NM_000023.3(SGCA):c.574C>T (p.Arg192Ter) http://identifiers.org/clinvar/37301 ^@ NM_006516.2(SLC2A1):c.694C>T (p.Arg232Cys) http://identifiers.org/clinvar/37385 ^@ NM_005732.3(RAD50):c.2910C>T (p.Asp970=) http://identifiers.org/clinvar/37436 ^@ NM_007294.3(BRCA1):c.1960A>T (p.Lys654Ter) http://identifiers.org/clinvar/37488 ^@ NM_007294.3(BRCA1):c.2758G>A (p.Val920Ile) http://identifiers.org/clinvar/37546 ^@ NM_007294.3(BRCA1):c.3770_3771delAG (p.Glu1257Glyfs) http://identifiers.org/clinvar/37599 ^@ NM_007294.3(BRCA1):c.4485-8C>T http://identifiers.org/clinvar/37654 ^@ NM_007294.3(BRCA1):c.5277+1G>A http://identifiers.org/clinvar/37709 ^@ NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) http://identifiers.org/clinvar/37759 ^@ NM_000059.3(BRCA2):c.1800T>A (p.Tyr600Ter) http://identifiers.org/clinvar/37813 ^@ NM_000059.3(BRCA2):c.2984G>C (p.Gly995Ala) http://identifiers.org/clinvar/37865 ^@ NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) http://identifiers.org/clinvar/37918 ^@ NM_000059.3(BRCA2):c.4698_4712delCCTAAAGTACAGAGA (p.Leu1567_Glu1571del) http://identifiers.org/clinvar/37972 ^@ NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) http://identifiers.org/clinvar/38023 ^@ NM_000059.3(BRCA2):c.6188G>A (p.Gly2063Glu) http://identifiers.org/clinvar/38077 ^@ NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) http://identifiers.org/clinvar/38127 ^@ NM_000059.3(BRCA2):c.7919A>C (p.Lys2640Thr) http://identifiers.org/clinvar/38177 ^@ NM_000059.3(BRCA2):c.8677C>T (p.Gln2893Ter) http://identifiers.org/clinvar/40422 ^@ NM_005188.3(CBL):c.2350G>A (p.Val784Met) http://identifiers.org/clinvar/40490 ^@ NM_002834.4(PTPN11):c.178G>A (p.Gly60Ser) http://identifiers.org/clinvar/40549 ^@ NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) http://identifiers.org/clinvar/40609 ^@ NM_002880.3(RAF1):c.909A>C (p.Thr303=) http://identifiers.org/clinvar/40683 ^@ NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) http://identifiers.org/clinvar/40771 ^@ NM_030662.3(MAP2K2):c.253G>T (p.Val85Leu) http://identifiers.org/clinvar/40975 ^@ NC_000001.10:g.(?_145413072)_(145592772_145596903)del http://identifiers.org/clinvar/41032 ^@ NM_000748.2(CHRNB2):c.1010T>G (p.Val337Gly) http://identifiers.org/clinvar/41089 ^@ NM_003611.2(OFD1):c.1979_1980delCT (p.Ser660Cysfs) http://identifiers.org/clinvar/41145 ^@ NM_003611.2(OFD1):c.790dupG (p.Glu264Glyfs) http://identifiers.org/clinvar/41197 ^@ NM_003977.3(AIP):c.713G>A (p.Cys238Tyr) http://identifiers.org/clinvar/51208 ^@ NM_000059.3(BRCA2):c.1825C>G (p.Gln609Glu) http://identifiers.org/clinvar/51260 ^@ NM_000059.3(BRCA2):c.2254_2257delGACT (p.Asp752Phefs) http://identifiers.org/clinvar/51311 ^@ NM_000059.3(BRCA2):c.2596_2599delGAAA (p.Glu866Leufs) http://identifiers.org/clinvar/51361 ^@ NM_000059.3(BRCA2):c.2854G>T (p.Ala952Ser) http://identifiers.org/clinvar/51411 ^@ NM_000059.3(BRCA2):c.316+6T>C http://identifiers.org/clinvar/51463 ^@ NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu) http://identifiers.org/clinvar/51514 ^@ NM_000059.3(BRCA2):c.3748G>T (p.Glu1250Ter) http://identifiers.org/clinvar/51565 ^@ NM_000059.3(BRCA2):c.3929delC (p.Thr1310Metfs) http://identifiers.org/clinvar/51616 ^@ NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) http://identifiers.org/clinvar/51668 ^@ NM_000059.3(BRCA2):c.4547T>A (p.Ile1516Asn) http://identifiers.org/clinvar/51720 ^@ NM_000059.3(BRCA2):c.4828dupG (p.Val1610Glyfs) http://identifiers.org/clinvar/51771 ^@ NM_000059.3(BRCA2):c.5113A>G (p.Ile1705Val) http://identifiers.org/clinvar/51822 ^@ NM_000059.3(BRCA2):c.5217_5223delTTTAAGT (p.Tyr1739Terfs) http://identifiers.org/clinvar/51876 ^@ NM_000059.3(BRCA2):c.5508T>G (p.Asn1836Lys) http://identifiers.org/clinvar/51928 ^@ NM_000059.3(BRCA2):c.5753A>G (p.His1918Arg) http://identifiers.org/clinvar/51979 ^@ NM_000059.3(BRCA2):c.5975C>T (p.Ser1992Leu) http://identifiers.org/clinvar/52030 ^@ NM_000059.3(BRCA2):c.6202dupA (p.Ile2068Asnfs) http://identifiers.org/clinvar/52083 ^@ NM_000059.3(BRCA2):c.6403A>C (p.Asn2135His) http://identifiers.org/clinvar/52135 ^@ NM_000059.3(BRCA2):c.6626_6627delTA (p.Ile2209Argfs) http://identifiers.org/clinvar/52186 ^@ NM_000059.3(BRCA2):c.68-16T>A http://identifiers.org/clinvar/52288 ^@ NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTG (p.Lys2404Cysfs) http://identifiers.org/clinvar/52338 ^@ NM_000059.3(BRCA2):c.7467dupT (p.Ile2490Tyrfs) http://identifiers.org/clinvar/52388 ^@ NM_000059.3(BRCA2):c.7689delC (p.His2563Glnfs) http://identifiers.org/clinvar/52439 ^@ NM_000059.3(BRCA2):c.7931A>G (p.Asn2644Ser) http://identifiers.org/clinvar/52489 ^@ NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) http://identifiers.org/clinvar/52539 ^@ NM_000059.3(BRCA2):c.8258_8260delTTC (p.Leu2753del) http://identifiers.org/clinvar/52590 ^@ NM_000059.3(BRCA2):c.8443G>A (p.Val2815Ile) http://identifiers.org/clinvar/52641 ^@ NM_000059.3(BRCA2):c.8632+6A>G http://identifiers.org/clinvar/53290 ^@ NM_000492.3(CFTR):c.1585-2A>G http://identifiers.org/clinvar/53341 ^@ NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) http://identifiers.org/clinvar/53391 ^@ NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe) http://identifiers.org/clinvar/53443 ^@ NM_000492.3(CFTR):c.2145_2146delAAinsGT (p.Lys716Ter) http://identifiers.org/clinvar/53496 ^@ NM_000492.3(CFTR):c.2488A>T (p.Lys830Ter) http://identifiers.org/clinvar/53546 ^@ NM_000492.3(CFTR):c.2706C>G (p.Ser902Arg) http://identifiers.org/clinvar/53596 ^@ NM_000492.3(CFTR):c.2916_2917delTCinsAT (p.Leu973Phe) http://identifiers.org/clinvar/53648 ^@ NM_000492.3(CFTR):c.3084G>T (p.Met1028Ile) http://identifiers.org/clinvar/53699 ^@ NM_000492.3(CFTR):c.3264delC (p.Trp1089Glyfs) http://identifiers.org/clinvar/53749 ^@ NM_000492.3(CFTR):c.3461A>G (p.Asp1154Gly) http://identifiers.org/clinvar/53800 ^@ NM_000492.3(CFTR):c.3739G>C (p.Gly1247Arg) http://identifiers.org/clinvar/53854 ^@ NM_000492.3(CFTR):c.3922G>T (p.Glu1308Ter) http://identifiers.org/clinvar/53905 ^@ NM_000492.3(CFTR):c.412_414dupCTA (p.Leu138_His139insLeu) http://identifiers.org/clinvar/53955 ^@ NM_000492.3(CFTR):c.454A>G (p.Met152Val) http://identifiers.org/clinvar/54005 ^@ NM_000492.3(CFTR):c.575A>G (p.Asp192Gly) http://identifiers.org/clinvar/54055 ^@ NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) http://identifiers.org/clinvar/54107 ^@ NM_007294.3(BRCA1):c.1045G>T (p.Glu349Ter) http://identifiers.org/clinvar/54157 ^@ NM_007294.3(BRCA1):c.117_118delTG (p.Cys39Terfs) http://identifiers.org/clinvar/54207 ^@ NM_007294.3(BRCA1):c.133_134+3delAAGTAinsT http://identifiers.org/clinvar/54257 ^@ NM_007294.3(BRCA1):c.1450G>T (p.Gly484Ter) http://identifiers.org/clinvar/54308 ^@ NM_007294.3(BRCA1):c.160delC (p.Gln54Argfs) http://identifiers.org/clinvar/54358 ^@ NM_007294.3(BRCA1):c.1819A>T (p.Lys607Ter) http://identifiers.org/clinvar/54409 ^@ NM_007294.3(BRCA1):c.1949_1950delTA (p.Ile650Lysfs) http://identifiers.org/clinvar/54459 ^@ NM_007294.3(BRCA1):c.2103G>A (p.Lys701=) http://identifiers.org/clinvar/54509 ^@ NM_007294.3(BRCA1):c.2236dupG (p.Asp746Glyfs) http://identifiers.org/clinvar/54559 ^@ NM_007294.3(BRCA1):c.2406_2409delGAGT (p.Gln804Valfs) http://identifiers.org/clinvar/54609 ^@ NM_007294.3(BRCA1):c.2590T>G (p.Ser864Ala) http://identifiers.org/clinvar/54659 ^@ NM_007294.3(BRCA1):c.2726delA (p.Asn909Ilefs) http://identifiers.org/clinvar/56229 ^@ NM_000481.3(AMT):c.230C>T (p.Ser77Leu) http://identifiers.org/clinvar/56280 ^@ NM_001042432.1(CLN3):c.558_559delAG (p.Gly187Aspfs) http://identifiers.org/clinvar/56332 ^@ NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter) http://identifiers.org/clinvar/56382 ^@ NM_001126105.2(SLC7A7):c.998+1G>T http://identifiers.org/clinvar/56434 ^@ NM_004646.3(NPHS1):c.1275delC (p.Lys426Argfs) http://identifiers.org/clinvar/56484 ^@ NM_004646.3(NPHS1):c.2625G>A (p.Trp875Ter) http://identifiers.org/clinvar/56535 ^@ NM_006493.2(CLN5):c.486+5G>C http://identifiers.org/clinvar/56588 ^@ NM_017739.3(POMGNT1):c.1785+2T>G http://identifiers.org/clinvar/56643 ^@ NM_017890.4(VPS13B):c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) http://identifiers.org/clinvar/56693 ^@ NM_017890.4(VPS13B):c.8472G>A (p.Trp2824Ter) http://identifiers.org/clinvar/56743 ^@ NM_030943.3(AMN):c.1006+36_1006+50del http://identifiers.org/clinvar/56812 ^@ NM_001142519.2(FAM111A):c.1531T>C (p.Tyr511His) http://identifiers.org/clinvar/57003 ^@ GRCh38/hg38 4q35.2(chr4:186218358-187484068)x3 http://identifiers.org/clinvar/57055 ^@ GRCh38/hg38 15q26.3(chr15:101666117-101723215)x3 http://identifiers.org/clinvar/57111 ^@ GRCh38/hg38 5q32(chr5:150365489-150381740)x3 http://identifiers.org/clinvar/57163 ^@ GRCh38/hg38 2q32.3(chr2:195270237-195722242)x1 http://identifiers.org/clinvar/57214 ^@ GRCh38/hg38 16p13.3(chr16:5967775-6629301)x3 http://identifiers.org/clinvar/57267 ^@ GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 http://identifiers.org/clinvar/57320 ^@ GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1 http://identifiers.org/clinvar/57374 ^@ GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1 http://identifiers.org/clinvar/102729 ^@ NM_000277.1(PAH):c.535T>A (p.Tyr179Asn) http://identifiers.org/clinvar/102780 ^@ NM_000277.1(PAH):c.673C>G (p.Pro225Ala) http://identifiers.org/clinvar/102830 ^@ NM_000277.1(PAH):c.770G>T (p.Gly257Val) http://identifiers.org/clinvar/102882 ^@ NM_000277.1(PAH):c.865G>C (p.Gly289Arg) http://identifiers.org/clinvar/102940 ^@ NM_021209.4(NLRC4):c.-1076A>T http://identifiers.org/clinvar/102990 ^@ NM_153447.4(NLRP5):c.-9G>A http://identifiers.org/clinvar/103040 ^@ NM_001079821.2(NLRP3):c.297A>G (p.Ala99=) http://identifiers.org/clinvar/103090 ^@ NM_006092.2(NOD1):c.1423C>T (p.Leu475Phe) http://identifiers.org/clinvar/103140 ^@ NM_024618.3(NLRX1):c.230-92G>A http://identifiers.org/clinvar/103190 ^@ NM_032206.4(NLRC5):c.4154+23C>T http://identifiers.org/clinvar/103240 ^@ NM_138329.2(NLRP6):c.2373-37G>A http://identifiers.org/clinvar/103290 ^@ NM_153447.4(NLRP5):c.3219G>A (p.Thr1073=) http://identifiers.org/clinvar/103340 ^@ NM_176822.3(NLRP14):c.*55G>C http://identifiers.org/clinvar/111214 ^@ NM_000416.2(IFNGR1):c.547-104A>G http://identifiers.org/clinvar/111264 ^@ NM_003263.3(TLR1):c.1952T>C (p.Val651Ala) http://identifiers.org/clinvar/120226 ^@ NM_017637.5(BNC2):c.1002A>G (p.Pro334=) http://identifiers.org/clinvar/120276 ^@ NM_000277.1(PAH):c.442-2A>C http://identifiers.org/clinvar/120326 ^@ NM_001130145.2(YAP1):c.370C>T (p.Arg124Ter) http://identifiers.org/clinvar/125492 ^@ NM_007294.3(BRCA1):c.20_28delGCGTTGAAG (p.Arg7_Glu10delinsGln) http://identifiers.org/clinvar/125566 ^@ NM_007294.3(BRCA1):c.135-20T>G http://identifiers.org/clinvar/126449 ^@ NM_020949.2(SLC7A14):c.395C>T (p.Ala132Val) http://identifiers.org/clinvar/126510 ^@ NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) http://identifiers.org/clinvar/126590 ^@ NM_024675.3(PALB2):c.110G>A (p.Arg37His) http://identifiers.org/clinvar/126641 ^@ NM_024675.3(PALB2):c.2205A>G (p.Pro735=) http://identifiers.org/clinvar/126692 ^@ NM_024675.3(PALB2):c.2859T>C (p.Asp953=) http://identifiers.org/clinvar/126742 ^@ NM_024675.3(PALB2):c.3433G>C (p.Gly1145Arg) http://identifiers.org/clinvar/126793 ^@ NM_000321.2(RB1):c.1973C>A (p.Ala658Asp) http://identifiers.org/clinvar/126844 ^@ NM_000321.2(RB1):c.219_220delAG (p.Arg73Serfs) http://identifiers.org/clinvar/126953 ^@ NM_000428.2(LTBP2):c.1999A>C (p.Ile667Leu) http://identifiers.org/clinvar/127003 ^@ NM_005732.3(RAD50):c.3165-4A>T http://identifiers.org/clinvar/127053 ^@ NM_134424.3(RAD52):c.*316G>C http://identifiers.org/clinvar/127110 ^@ NM_005013.2(NUCB2):c.-254A>G http://identifiers.org/clinvar/127191 ^@ NM_178014.3(TUBB):c.1201G>A (p.Glu401Lys) http://identifiers.org/clinvar/127277 ^@ NM_000038.5(APC):c.1462C>T (p.Leu488Phe) http://identifiers.org/clinvar/127327 ^@ NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) http://identifiers.org/clinvar/127377 ^@ NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) http://identifiers.org/clinvar/127427 ^@ NM_000051.3(ATM):c.6823A>C (p.Ile2275Leu) http://identifiers.org/clinvar/127478 ^@ NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) http://identifiers.org/clinvar/127528 ^@ NM_000136.2(FANCC):c.-79+5G>A http://identifiers.org/clinvar/127578 ^@ NM_000179.2(MSH6):c.3100C>G (p.Arg1034Gly) http://identifiers.org/clinvar/127629 ^@ NM_000251.2(MSH2):c.1238A>C (p.Gln413Pro) http://identifiers.org/clinvar/127686 ^@ NM_000314.6(PTEN):c.-993C>G http://identifiers.org/clinvar/127738 ^@ NM_000465.3(BARD1):c.353A>G (p.Asn118Ser) http://identifiers.org/clinvar/127789 ^@ NM_000535.6(PMS2):c.319C>T (p.Arg107Trp) http://identifiers.org/clinvar/160890 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 http://identifiers.org/clinvar/160942 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 http://identifiers.org/clinvar/161375 ^@ NM_000540.2(RYR1):c.10621G>A (p.Ala3541Thr) http://identifiers.org/clinvar/161441 ^@ NM_001845.5(COL4A1):c.2194-1G>A http://identifiers.org/clinvar/161794 ^@ NM_054106.1(OR5AC2):c.730G>A (p.Gly244Ser) http://identifiers.org/clinvar/161844 ^@ NM_181504.3(PIK3R1):c.1129C>A (p.Leu377Ile) http://identifiers.org/clinvar/161544 ^@ NM_001164097.1(VCAN):c.5092G>A (p.Val1698Ile) http://identifiers.org/clinvar/161594 ^@ NM_002336.2(LRP6):c.3241C>G (p.Pro1081Ala) http://identifiers.org/clinvar/161644 ^@ NM_006121.3(KRT1):c.757G>T (p.Asp253Tyr) http://identifiers.org/clinvar/161494 ^@ NM_001014831.2(PAK4):c.1504G>C (p.Gly502Arg) http://identifiers.org/clinvar/161694 ^@ NM_015419.3(MXRA5):c.5788G>A (p.Ala1930Thr) http://identifiers.org/clinvar/161744 ^@ NM_021140.3(KDM6A):c.4034delC (p.Thr1345Ilefs) http://identifiers.org/clinvar/162016 ^@ NM_018075.4(ANO10):c.132dupA (p.Asp45Argfs) http://identifiers.org/clinvar/162078 ^@ NM_002019.4(FLT1):c.2901G>A (p.Ala967=) http://identifiers.org/clinvar/162135 ^@ NM_001563.3(IMPG1):c.1519C>T (p.Arg507Ter) http://identifiers.org/clinvar/162203 ^@ NM_001305563.1(TXNL4A):c.-60-10913_-60-10880del http://identifiers.org/clinvar/162405 ^@ NM_020461.3(TUBGCP6):c.3565G>T (p.Gly1189Ter) http://identifiers.org/clinvar/162486 ^@ NM_004208.3(AIFM1):c.1113C>T (p.Ser371=) http://identifiers.org/clinvar/162562 ^@ NM_024301.4(FKRP):c.1442C>A (p.Pro481His) http://identifiers.org/clinvar/162664 ^@ NM_004130.3(GYG1):c.749G>A (p.Trp250Ter) http://identifiers.org/clinvar/179773 ^@ NM_206933.2(USH2A):c.5012G>A (p.Gly1671Asp) http://identifiers.org/clinvar/162812 ^@ NM_001232.3(CASQ2):c.758G>A (p.Arg253His) http://identifiers.org/clinvar/165549 ^@ NM_001001430.2(TNNT2):c.280C>T (p.Arg94Cys) http://identifiers.org/clinvar/179623 ^@ NM_001035.2(RYR2):c.4941G>A (p.Gln1647=) http://identifiers.org/clinvar/180073 ^@ NM_031475.2(ESPN):c.382G>T (p.Gly128Cys) http://identifiers.org/clinvar/165667 ^@ NM_133378.4(TTN):c.92322_92326delGTCTT (p.Ser30776Hisfs) http://identifiers.org/clinvar/180123 ^@ NM_001267550.2(TTN):c.48161-4dupT http://identifiers.org/clinvar/179523 ^@ NM_001256850.1(TTN):c.88259G>A (p.Arg29420His) http://identifiers.org/clinvar/179573 ^@ NM_133378.4(TTN):c.82425A>G (p.Thr27475=) http://identifiers.org/clinvar/179873 ^@ NM_133378.4(TTN):c.24909C>T (p.Asn8303=) http://identifiers.org/clinvar/165278 ^@ NM_005633.3(SOS1):c.3600C>T (p.Asp1200=) http://identifiers.org/clinvar/163074 ^@ NM_005219.4(DIAPH1):c.1364G>A (p.Arg455Gln) http://identifiers.org/clinvar/179923 ^@ NM_001199799.1(ILDR1):c.73C>G (p.Leu25Val) http://identifiers.org/clinvar/165010 ^@ NM_002880.3(RAF1):c.321T>C (p.Gly107=) http://identifiers.org/clinvar/165135 ^@ NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) http://identifiers.org/clinvar/163275 ^@ NM_004415.3(DSP):c.5154G>A (p.Leu1718=) http://identifiers.org/clinvar/179723 ^@ NM_000441.1(SLC26A4):c.841G>A (p.Val281Ile) http://identifiers.org/clinvar/163124 ^@ NM_001277115.1(DNAH11):c.11202+13G>A http://identifiers.org/clinvar/164801 ^@ NM_016616.4(NME8):c.622T>C (p.Cys208Arg) http://identifiers.org/clinvar/198460 ^@ NM_001143979.1(NDE1):c.626C>T (p.Thr209Met) http://identifiers.org/clinvar/198514 ^@ NM_004560.3(ROR2):c.1054A>G (p.Ser352Gly) http://identifiers.org/clinvar/198565 ^@ NM_015404.3(WHRN):c.1417-1G>A http://identifiers.org/clinvar/198617 ^@ NM_139319.2(SLC17A8):c.858T>C (p.Tyr286=) http://identifiers.org/clinvar/198668 ^@ NM_001035.2(RYR2):c.10935+18C>T http://identifiers.org/clinvar/198720 ^@ NM_000350.2(ABCA4):c.880C>T (p.Gln294Ter) http://identifiers.org/clinvar/198774 ^@ NM_001414.3(EIF2B1):c.735C>T (p.Asp245=) http://identifiers.org/clinvar/198826 ^@ NM_005477.2(HCN4):c.3350C>T (p.Pro1117Leu) http://identifiers.org/clinvar/201288 ^@ NM_001035.2(RYR2):c.32T>C (p.Ile11Thr) http://identifiers.org/clinvar/201234 ^@ NM_001035.2(RYR2):c.3025C>T (p.Arg1009Trp) http://identifiers.org/clinvar/201179 ^@ NM_001035.2(RYR2):c.9655G>A (p.Val3219Met) http://identifiers.org/clinvar/201345 ^@ NM_001035.2(RYR2):c.13315C>A (p.Pro4439Thr) http://identifiers.org/clinvar/201403 ^@ NM_001035.2(RYR2):c.13735C>T (p.His4579Tyr) http://identifiers.org/clinvar/201512 ^@ NM_198056.2(SCN5A):c.4396A>G (p.Ile1466Val) http://identifiers.org/clinvar/201569 ^@ NM_198056.2(SCN5A):c.3964-2_3964delAGG http://identifiers.org/clinvar/201456 ^@ NM_198056.2(SCN5A):c.1537C>T (p.Arg513Cys) http://identifiers.org/clinvar/201629 ^@ NM_001103.3(ACTN2):c.496G>C (p.Ala166Pro) http://identifiers.org/clinvar/201957 ^@ NM_014476.5(PDLIM3):c.93+5G>A http://identifiers.org/clinvar/202073 ^@ NM_001134363.2(RBM20):c.3046G>A (p.Gly1016Ser) http://identifiers.org/clinvar/201685 ^@ NM_004281.3(BAG3):c.142A>C (p.Thr48Pro) http://identifiers.org/clinvar/201904 ^@ NM_006393.2(NEBL):c.1838G>A (p.Arg613Gln) http://identifiers.org/clinvar/201849 ^@ NM_007078.2(LDB3):c.1487T>C (p.Phe496Ser) http://identifiers.org/clinvar/202016 ^@ NM_004572.3(PKP2):c.1125_1132delTTTCATAC (p.Phe376Alafs) http://identifiers.org/clinvar/202132 ^@ NM_003276.2(TMPO):c.767T>A (p.Leu256His) http://identifiers.org/clinvar/201795 ^@ NM_020433.4(JPH2):c.458T>C (p.Val153Ala) http://identifiers.org/clinvar/201739 ^@ NM_004006.2(DMD):c.7654G>A (p.Asp2552Asn) http://identifiers.org/clinvar/202237 ^@ NC_000009.11:g.(?_107972883)_(108105377_?)dup http://identifiers.org/clinvar/202529 ^@ NM_001256850.1(TTN):c.102712C>T (p.Gln34238Ter) http://identifiers.org/clinvar/202416 ^@ NM_001256850.1(TTN):c.77716G>T (p.Glu25906Ter) http://identifiers.org/clinvar/202470 ^@ NM_001267550.2(TTN):c.77100dupA (p.Pro25701Thrfs) http://identifiers.org/clinvar/231898 ^@ NM_000038.5(APC):c.4913T>C (p.Met1638Thr) http://identifiers.org/clinvar/232899 ^@ NM_000038.5(APC):c.5402C>T (p.Ala1801Val) http://identifiers.org/clinvar/230359 ^@ NM_000038.5(APC):c.8298C>T (p.Ser2766=) http://identifiers.org/clinvar/230459 ^@ NM_002485.4(NBN):c.830A>G (p.Asn277Ser) http://identifiers.org/clinvar/232949 ^@ NM_020975.4(RET):c.2607+3G>C http://identifiers.org/clinvar/232749 ^@ NM_000051.3(ATM):c.1961A>C (p.Gln654Pro) http://identifiers.org/clinvar/230909 ^@ NM_000051.3(ATM):c.2181C>T (p.Gly727=) http://identifiers.org/clinvar/230159 ^@ NM_000051.3(ATM):c.3746+5G>A http://identifiers.org/clinvar/233249 ^@ NM_000051.3(ATM):c.5318delA (p.Lys1773Serfs) http://identifiers.org/clinvar/232548 ^@ NM_000051.3(ATM):c.7266G>A (p.Glu2422=) http://identifiers.org/clinvar/230309 ^@ NM_000051.3(ATM):c.7615G>A (p.Glu2539Lys) http://identifiers.org/clinvar/231059 ^@ NM_000051.3(ATM):c.7622T>G (p.Leu2541Arg) http://identifiers.org/clinvar/232799 ^@ NM_005591.3(MRE11):c.2121A>G (p.Arg707=) http://identifiers.org/clinvar/233099 ^@ NM_005591.3(MRE11):c.260G>A (p.Arg87Gln) http://identifiers.org/clinvar/232649 ^@ NM_000059.3(BRCA2):c.820T>C (p.Phe274Leu) http://identifiers.org/clinvar/233599 ^@ NM_000059.3(BRCA2):c.1772T>C (p.Ile591Thr) http://identifiers.org/clinvar/230659 ^@ NM_000059.3(BRCA2):c.1806A>G (p.Gly602=) http://identifiers.org/clinvar/230259 ^@ NM_000059.3(BRCA2):c.7602delG (p.Cys2535Valfs) http://identifiers.org/clinvar/233149 ^@ NM_000059.3(BRCA2):c.8740C>G (p.Pro2914Ala) http://identifiers.org/clinvar/229909 ^@ NM_000059.3(BRCA2):c.9217G>T (p.Asp3073Tyr) http://identifiers.org/clinvar/229959 ^@ NM_002382.4(MAX):c.314C>T (p.Ala105Val) http://identifiers.org/clinvar/232198 ^@ NM_002382.4(MAX):c.212T>A (p.Ile71Asn) http://identifiers.org/clinvar/232699 ^@ NM_000548.4(TSC2):c.4271A>G (p.Asp1424Gly) http://identifiers.org/clinvar/230859 ^@ NM_024675.3(PALB2):c.2488delG (p.Glu830Serfs) http://identifiers.org/clinvar/231998 ^@ NM_024675.3(PALB2):c.1830A>G (p.Thr610=) http://identifiers.org/clinvar/232398 ^@ NM_024675.3(PALB2):c.1216delG (p.Ala406Glnfs) http://identifiers.org/clinvar/233549 ^@ NM_004360.4(CDH1):c.2350C>T (p.Arg784Cys) http://identifiers.org/clinvar/230759 ^@ NM_001042492.2(NF1):c.479+3T>G http://identifiers.org/clinvar/232498 ^@ NM_001042492.2(NF1):c.909A>G (p.Leu303=) http://identifiers.org/clinvar/231159 ^@ NM_001042492.2(NF1):c.1023C>T (p.Val341=) http://identifiers.org/clinvar/230609 ^@ NM_001042492.2(NF1):c.1120G>A (p.Asp374Asn) http://identifiers.org/clinvar/233199 ^@ NM_001042492.2(NF1):c.1870T>C (p.Phe624Leu) http://identifiers.org/clinvar/232849 ^@ NM_001042492.2(NF1):c.5504A>G (p.Gln1835Arg) http://identifiers.org/clinvar/231009 ^@ NM_001042492.2(NF1):c.6111T>C (p.Ala2037=) http://identifiers.org/clinvar/230709 ^@ NM_001042492.2(NF1):c.7429C>G (p.Pro2477Ala) http://identifiers.org/clinvar/230409 ^@ NM_001042492.2(NF1):c.7986C>T (p.Asp2662=) http://identifiers.org/clinvar/231948 ^@ NM_007294.3(BRCA1):c.4782A>G (p.Pro1594=) http://identifiers.org/clinvar/232448 ^@ NM_007294.3(BRCA1):c.3712C>T (p.Pro1238Ser) http://identifiers.org/clinvar/230059 ^@ NM_007294.3(BRCA1):c.3274G>A (p.Glu1092Lys) http://identifiers.org/clinvar/231209 ^@ NM_007294.3(BRCA1):c.2942C>A (p.Pro981Gln) http://identifiers.org/clinvar/230809 ^@ NM_007294.3(BRCA1):c.2831G>A (p.Cys944Tyr) http://identifiers.org/clinvar/232148 ^@ NM_058216.2(RAD51C):c.268C>T (p.Leu90Phe) http://identifiers.org/clinvar/231109 ^@ NM_032043.2(BRIP1):c.341C>T (p.Pro114Leu) http://identifiers.org/clinvar/230109 ^@ NM_000455.4(STK11):c.528C>T (p.Asp176=) http://identifiers.org/clinvar/230209 ^@ NM_007194.3(CHEK2):c.1408G>C (p.Asp470His) http://identifiers.org/clinvar/232348 ^@ NM_007194.3(CHEK2):c.945G>T (p.Gly315=) http://identifiers.org/clinvar/232048 ^@ NM_007194.3(CHEK2):c.894T>G (p.Tyr298Ter) http://identifiers.org/clinvar/230559 ^@ NM_007194.3(CHEK2):c.134C>T (p.Thr45Met) http://identifiers.org/clinvar/234929 ^@ NM_003052.4(SLC34A1):c.1006T>G (p.Cys336Gly) http://identifiers.org/clinvar/235066 ^@ NM_000371.3(TTR):c.327G>T (p.Glu109Asp) http://identifiers.org/clinvar/235016 ^@ NC_012920.1:m.3276A>G http://identifiers.org/clinvar/235191 ^@ NM_018946.3(NANS):c.709C>T (p.Arg237Cys) http://identifiers.org/clinvar/235255 ^@ NM_000474.3(TWIST1):c.94G>A (p.Gly32Ser) http://identifiers.org/clinvar/235308 ^@ NM_000815.4(GABRD):c.775G>A (p.Val259Ile) http://identifiers.org/clinvar/235359 ^@ NM_000271.4(NPC1):c.1232G>A (p.Arg411Gln) http://identifiers.org/clinvar/235414 ^@ NM_000147.4(FUCA1):c.778G>A (p.Val260Ile) http://identifiers.org/clinvar/235469 ^@ NM_001303052.1(MYT1L):c.1706G>A (p.Arg569Gln) http://identifiers.org/clinvar/235523 ^@ NM_015114.2(ANKLE2):c.212G>A (p.Arg71Gln) http://identifiers.org/clinvar/235574 ^@ NC_012920.1:m.14470T>A http://identifiers.org/clinvar/235624 ^@ NM_004453.3(ETFDH):c.462C>G (p.Tyr154Ter) http://identifiers.org/clinvar/235677 ^@ NM_024685.3(BBS10):c.765G>A (p.Met255Ile) http://identifiers.org/clinvar/235740 ^@ NM_006019.3(TCIRG1):c.482C>T (p.Pro161Leu) http://identifiers.org/clinvar/235812 ^@ NM_024740.2(ALG9):c.50G>C (p.Ser17Thr) http://identifiers.org/clinvar/235886 ^@ NM_006231.3(POLE):c.1420G>A (p.Val474Ile) http://identifiers.org/clinvar/236048 ^@ NM_001039213.3(CEACAM16):c.703C>T (p.Arg235Cys) http://identifiers.org/clinvar/236148 ^@ NM_000350.2(ABCA4):c.6515A>G (p.Lys2172Arg) http://identifiers.org/clinvar/236098 ^@ NM_000350.2(ABCA4):c.2940G>C (p.Leu980Phe) http://identifiers.org/clinvar/238234 ^@ NM_001035.2(RYR2):c.4596+3_4596+9delACGCGGT http://identifiers.org/clinvar/241038 ^@ NM_015284.3(SZT2):c.7965C>T (p.Pro2655=) http://identifiers.org/clinvar/238334 ^@ NM_001128425.1(MUTYH):c.1156C>G (p.Gln386Glu) http://identifiers.org/clinvar/237634 ^@ NM_000312.3(PROC):c.891C>T (p.Asp297=) http://identifiers.org/clinvar/237734 ^@ NM_000384.2(APOB):c.11401T>A (p.Ser3801Thr) http://identifiers.org/clinvar/237834 ^@ NM_000465.3(BARD1):c.297A>G (p.Arg99=) http://identifiers.org/clinvar/241938 ^@ NM_145038.4(DRC1):c.2001A>G (p.Thr667=) http://identifiers.org/clinvar/237132 ^@ NM_000179.2(MSH6):c.1269T>G (p.Leu423=) http://identifiers.org/clinvar/237182 ^@ NM_000179.2(MSH6):c.3205G>A (p.Gly1069Arg) http://identifiers.org/clinvar/240988 ^@ NM_015120.4(ALMS1):c.2357A>G (p.Glu786Gly) http://identifiers.org/clinvar/241738 ^@ NM_033084.4(FANCD2):c.311T>C (p.Ile104Thr) http://identifiers.org/clinvar/238584 ^@ NM_001148.4(ANK2):c.6633C>T (p.Ala2211=) http://identifiers.org/clinvar/237233 ^@ NM_000222.2(KIT):c.1109A>G (p.Asn370Ser) http://identifiers.org/clinvar/240938 ^@ NM_014855.2(AP5Z1):c.2060C>G (p.Ser687Cys) http://identifiers.org/clinvar/261587 ^@ NM_022455.4(NSD1):c.4378+26C>T http://identifiers.org/clinvar/263026 ^@ NM_182925.4(FLT4):c.1421+37C>T http://identifiers.org/clinvar/262187 ^@ NM_033071.3(SYNE1):c.23414+29G>A http://identifiers.org/clinvar/256298 ^@ NM_000500.7(CYP21A2):c.738+12A>G http://identifiers.org/clinvar/261137 ^@ NM_019105.6(TNXB):c.3764G>A (p.Arg1255His) http://identifiers.org/clinvar/263076 ^@ NM_183050.3(BCKDHB):c.197-11delG http://identifiers.org/clinvar/263126 ^@ NM_198428.2(BBS9):c.263+39A>G http://identifiers.org/clinvar/255448 ^@ NM_000168.5(GLI3):c.680-25C>T http://identifiers.org/clinvar/261087 ^@ NM_019098.4(CNGB3):c.339-10dupT http://identifiers.org/clinvar/255948 ^@ NM_000368.4(TSC1):c.1874A>C (p.Glu625Ala) http://identifiers.org/clinvar/261187 ^@ NM_019892.5(INPP5E):c.-31G>C http://identifiers.org/clinvar/261337 ^@ NM_020549.4(CHAT):c.580-35G>A http://identifiers.org/clinvar/261987 ^@ NM_032024.4(C10orf11):c.144A>G (p.Arg48=) http://identifiers.org/clinvar/255498 ^@ NM_000195.4(HPS1):c.1167G>A (p.Ala389=) http://identifiers.org/clinvar/256348 ^@ NM_000518.4(HBB):c.93-15T>C http://identifiers.org/clinvar/261237 ^@ NM_020376.3(PNPLA2):c.1458_1459delCTinsTC (p.Pro486_Leu487=) http://identifiers.org/clinvar/261787 ^@ NM_024809.4(TCTN2):c.1612+12C>T http://identifiers.org/clinvar/255748 ^@ NM_000289.5(PFKM):c.1127+45G>A http://identifiers.org/clinvar/261837 ^@ NM_025114.3(CEP290):c.250+28G>C http://identifiers.org/clinvar/261387 ^@ NM_020937.3(FANCM):c.4516-5_4516-2delCTTA http://identifiers.org/clinvar/255398 ^@ NM_000161.2(GCH1):c.211C>T (p.Leu71=) http://identifiers.org/clinvar/256098 ^@ NM_000428.2(LTBP2):c.2788+13C>T http://identifiers.org/clinvar/261487 ^@ NM_022067.3(VIPAS39):c.1254T>C (p.Asn418=) http://identifiers.org/clinvar/255148 ^@ NM_000119.2(EPB42):c.1369C>T (p.Arg457Cys) http://identifiers.org/clinvar/255298 ^@ NM_000138.4(FBN1):c.4881G>T (p.Gly1627=) http://identifiers.org/clinvar/255648 ^@ NM_000259.3(MYO5A):c.3567+19C>T http://identifiers.org/clinvar/332893 ^@ NM_133378.4(TTN):c.28030+5G>A http://identifiers.org/clinvar/334984 ^@ NM_000751.2(CHRND):c.*449C>T http://identifiers.org/clinvar/335034 ^@ NM_002242.4(KCNJ13):c.*1758T>A http://identifiers.org/clinvar/332993 ^@ NM_201548.4(CERKL):c.*473delA http://identifiers.org/clinvar/332843 ^@ NM_133378.4(TTN):c.44438T>C (p.Ile14813Thr) http://identifiers.org/clinvar/332943 ^@ NM_133378.4(TTN):c.9267G>A (p.Gln3089=) http://identifiers.org/clinvar/336073 ^@ NM_022437.2(ABCG8):c.762C>T (p.Thr254=) http://identifiers.org/clinvar/337030 ^@ NM_015120.4(ALMS1):c.10183A>G (p.Lys3395Glu) http://identifiers.org/clinvar/333832 ^@ NM_014929.3(FASTKD2):c.*1475dupC http://identifiers.org/clinvar/334183 ^@ NM_000384.2(APOB):c.495G>C (p.Leu165=) http://identifiers.org/clinvar/334033 ^@ NM_001875.4(CPS1):c.3857A>T (p.Glu1286Val) http://identifiers.org/clinvar/337330 ^@ NM_003896.3(ST3GAL5):c.*140delA http://identifiers.org/clinvar/334133 ^@ NM_000384.2(APOB):c.6125T>C (p.Met2042Thr) http://identifiers.org/clinvar/337530 ^@ NM_014014.4(SNRNP200):c.5933G>C (p.Gly1978Ala) http://identifiers.org/clinvar/334284 ^@ NM_014140.3(SMARCAL1):c.-141G>A http://identifiers.org/clinvar/334534 ^@ NM_015311.2(OBSL1):c.593C>A (p.Ala198Glu) http://identifiers.org/clinvar/334434 ^@ NM_002181.3(IHH):c.969C>T (p.His323=) http://identifiers.org/clinvar/337080 ^@ NM_004082.4(DCTN1):c.2505G>A (p.Thr835=) http://identifiers.org/clinvar/337180 ^@ NM_000821.6(GGCX):c.*4429G>A http://identifiers.org/clinvar/334584 ^@ NM_003590.4(CUL3):c.*3026G>A http://identifiers.org/clinvar/337380 ^@ NM_022912.2(REEP1):c.*798T>C http://identifiers.org/clinvar/337430 ^@ NM_144563.2(RPIA):c.493G>A (p.Val165Ile) http://identifiers.org/clinvar/337680 ^@ NM_001298.2(CNGA3):c.*904C>T http://identifiers.org/clinvar/343870 ^@ NM_004733.3(SLC33A1):c.*179dupT http://identifiers.org/clinvar/350539 ^@ NM_001182.4(ALDH7A1):c.*2254T>A http://identifiers.org/clinvar/350739 ^@ NM_001999.3(FBN2):c.*819A>G http://identifiers.org/clinvar/350639 ^@ NM_032446.2(MEGF10):c.512C>T (p.Ala171Val) http://identifiers.org/clinvar/350789 ^@ NM_001999.3(FBN2):c.1078+12A>C http://identifiers.org/clinvar/358065 ^@ NM_181714.3(LCA5):c.*1752G>A http://identifiers.org/clinvar/350939 ^@ NM_017415.2(KLHL3):c.*3204_*3205insT http://identifiers.org/clinvar/358215 ^@ NM_006416.4(SLC35A1):c.133A>G (p.Thr45Ala) http://identifiers.org/clinvar/358315 ^@ NM_000602.4(SERPINE1):c.*207C>T http://identifiers.org/clinvar/351089 ^@ NM_001369.2(DNAH5):c.5538T>G (p.Leu1846=) http://identifiers.org/clinvar/351239 ^@ NM_002109.5(HARS):c.390C>T (p.Asp130=) http://identifiers.org/clinvar/351189 ^@ NM_001369.2(DNAH5):c.3733C>T (p.Arg1245Cys) http://identifiers.org/clinvar/358465 ^@ NM_006348.3(COG5):c.969T>G (p.Thr323=) http://identifiers.org/clinvar/351339 ^@ NM_001018077.1(NR3C1):c.*1407A>G http://identifiers.org/clinvar/351139 ^@ NM_199189.2(MATR3):c.2493+7_2493+9delTTG http://identifiers.org/clinvar/358615 ^@ NM_014491.3(FOXP2):c.*203_*204delCT http://identifiers.org/clinvar/351289 ^@ NM_005219.4(DIAPH1):c.2162C>A (p.Pro721His) http://identifiers.org/clinvar/358665 ^@ NM_014491.3(FOXP2):c.*3423C>T http://identifiers.org/clinvar/358715 ^@ NM_001127500.2(MET):c.*1224C>T http://identifiers.org/clinvar/355726 ^@ NM_203395.2(IYD):c.*1856G>A http://identifiers.org/clinvar/356126 ^@ NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) http://identifiers.org/clinvar/352076 ^@ NM_000112.3(SLC26A2):c.*3435C>G http://identifiers.org/clinvar/356176 ^@ NM_001080.3(ALDH5A1):c.*1883C>T http://identifiers.org/clinvar/356376 ^@ NM_080680.2(COL11A2):c.*536C>T http://identifiers.org/clinvar/352326 ^@ NM_000171.3(GLRA1):c.-130G>A http://identifiers.org/clinvar/352376 ^@ NM_000337.5(SGCD):c.*3779T>C http://identifiers.org/clinvar/356526 ^@ NM_182548.3(LHFPL5):c.*505_*506insTC http://identifiers.org/clinvar/356626 ^@ NM_005943.5(MOCS1):c.*1502C>G http://identifiers.org/clinvar/356776 ^@ NM_000322.4(PRPH2):c.1008C>T (p.Gly336=) http://identifiers.org/clinvar/360454 ^@ NM_005228.4(EGFR):c.525C>T (p.Asn175=) http://identifiers.org/clinvar/361154 ^@ NM_015713.4(RRM2B):c.*1894dupT http://identifiers.org/clinvar/361204 ^@ NM_178857.5(RP1L1):c.7047T>C (p.Thr2349=) http://identifiers.org/clinvar/357765 ^@ NM_018368.3(LMBRD1):c.*341C>T http://identifiers.org/clinvar/358015 ^@ NM_004999.3(MYO6):c.*1469G>T http://identifiers.org/clinvar/358115 ^@ NM_181714.3(LCA5):c.-503C>T http://identifiers.org/clinvar/300056 ^@ NM_000124.3(ERCC6):c.2974C>G (p.Gln992Glu) http://identifiers.org/clinvar/300106 ^@ NM_000242.2(MBL2):c.*2477C>T http://identifiers.org/clinvar/306560 ^@ NM_030962.3(SBF2):c.*882T>C http://identifiers.org/clinvar/300156 ^@ NM_033056.3(PCDH15):c.*421C>T http://identifiers.org/clinvar/364003 ^@ NM_177965.3(C8orf37):c.-5T>C http://identifiers.org/clinvar/306660 ^@ NM_139319.2(SLC17A8):c.*1587A>G http://identifiers.org/clinvar/361104 ^@ NM_017890.4(VPS13B):c.*336_*353dup18 http://identifiers.org/clinvar/307649 ^@ NM_004064.4(CDKN1B):c.-386C>T http://identifiers.org/clinvar/307699 ^@ NM_025215.5(PUS1):c.216T>C (p.Gly72=) http://identifiers.org/clinvar/300995 ^@ NM_007055.3(POLR3A):c.*1853C>T http://identifiers.org/clinvar/301045 ^@ NM_007055.3(POLR3A):c.3336G>A (p.Glu1112=) http://identifiers.org/clinvar/308099 ^@ NM_004985.4(KRAS):c.*1656A>G http://identifiers.org/clinvar/365192 ^@ NM_014908.3(DOLK):c.1446G>A (p.Ala482=) http://identifiers.org/clinvar/308149 ^@ NM_000719.6(CACNA1C):c.3946-10C>T http://identifiers.org/clinvar/365492 ^@ NM_000368.4(TSC1):c.*677G>C http://identifiers.org/clinvar/308699 ^@ NM_153026.2(PRICKLE1):c.*142G>A http://identifiers.org/clinvar/301395 ^@ NM_005271.4(GLUD1):c.868A>G (p.Met290Val) http://identifiers.org/clinvar/301545 ^@ NM_000043.5(FAS):c.*1294A>T http://identifiers.org/clinvar/308849 ^@ NM_001017535.1(VDR):c.*1253T>A http://identifiers.org/clinvar/365392 ^@ NM_000368.4(TSC1):c.*4437G>A http://identifiers.org/clinvar/365842 ^@ NM_052813.4(CARD9):c.914G>A (p.Arg305His) http://identifiers.org/clinvar/301845 ^@ NM_001002261.3(ZFYVE27):c.*223G>C http://identifiers.org/clinvar/365542 ^@ NM_139025.4(ADAMTS13):c.870C>T (p.Pro290=) http://identifiers.org/clinvar/365642 ^@ NM_000787.3(DBH):c.686C>A (p.Thr229Lys) http://identifiers.org/clinvar/301895 ^@ NM_004621.5(TRPC6):c.*33delT http://identifiers.org/clinvar/302095 ^@ NM_001080463.1(DYNC2H1):c.10553A>C (p.Lys3518Thr) http://identifiers.org/clinvar/310338 ^@ NM_000239.2(LYZ):c.*242C>A http://identifiers.org/clinvar/310538 ^@ NM_018979.3(WNK1):c.108G>C (p.Gly36=) http://identifiers.org/clinvar/306610 ^@ NM_018979.3(WNK1):c.5583+3A>G http://identifiers.org/clinvar/310643 ^@ NM_001920.4(DCN):c.*443T>G http://identifiers.org/clinvar/310793 ^@ NM_005888.3(SLC25A3):c.-74C>T http://identifiers.org/clinvar/310843 ^@ NM_000282.3(PCCA):c.432A>G (p.Gly144=) http://identifiers.org/clinvar/313032 ^@ NM_025152.2(NUBPL):c.*122G>C http://identifiers.org/clinvar/322467 ^@ NM_005148.3(UNC119):c.267C>G (p.Val89=) http://identifiers.org/clinvar/313132 ^@ NM_001079668.2(NKX2-1):c.*210dupT http://identifiers.org/clinvar/314921 ^@ NM_004239.4(TRIP11):c.*246A>G http://identifiers.org/clinvar/313232 ^@ NM_020937.3(FANCM):c.*232G>A http://identifiers.org/clinvar/315071 ^@ NM_177438.2(DICER1):c.*1894C>T http://identifiers.org/clinvar/315421 ^@ NM_144599.4(NIPA1):c.810G>A (p.Thr270=) http://identifiers.org/clinvar/313532 ^@ NM_182914.2(SYNE2):c.7469T>G (p.Val2490Gly) http://identifiers.org/clinvar/323506 ^@ NM_000342.3(SLC4A1):c.1878T>C (p.Asp626=) http://identifiers.org/clinvar/315771 ^@ NM_152594.2(SPRED1):c.*3623G>T http://identifiers.org/clinvar/323606 ^@ NM_002055.4(GFAP):c.*30G>A http://identifiers.org/clinvar/314132 ^@ NM_031427.3(DNAL1):c.*6301C>T http://identifiers.org/clinvar/323756 ^@ NM_015443.3(KANSL1):c.*487C>T http://identifiers.org/clinvar/323806 ^@ NM_001193466.1(KANSL1):c.-279G>A http://identifiers.org/clinvar/316071 ^@ NM_025137.3(SPG11):c.*243A>G http://identifiers.org/clinvar/324056 ^@ NM_000088.3(COL1A1):c.*1233G>A http://identifiers.org/clinvar/368371 ^@ NM_153380.3(ZNF41):c.664A>G (p.Asn222Asp) http://identifiers.org/clinvar/324213 ^@ NM_015294.4(TRIM37):c.-228C>G http://identifiers.org/clinvar/324263 ^@ NM_018488.3(TBX4):c.1512G>A (p.Lys504=) http://identifiers.org/clinvar/324365 ^@ NM_000789.3(ACE):c.417+13C>T http://identifiers.org/clinvar/314971 ^@ NM_004239.4(TRIP11):c.1186+14G>A http://identifiers.org/clinvar/315271 ^@ NM_139057.3(ADAMTS17):c.2109G>A (p.Lys703=) http://identifiers.org/clinvar/315471 ^@ NM_000275.2(OCA2):c.1303G>A (p.Val435Ile) http://identifiers.org/clinvar/315521 ^@ NM_002420.5(TRPM1):c.1754A>G (p.Lys585Arg) http://identifiers.org/clinvar/315721 ^@ NM_005159.4(ACTC1):c.-175C>A http://identifiers.org/clinvar/315971 ^@ NM_173500.3(TTBK2):c.*580T>A http://identifiers.org/clinvar/316021 ^@ NM_000119.2(EPB42):c.802G>C (p.Glu268Gln) http://identifiers.org/clinvar/371926 ^@ NM_000077.4(CDKN2A):c.150+193G>A http://identifiers.org/clinvar/372026 ^@ NM_006231.3(POLE):c.63-14C>T http://identifiers.org/clinvar/371976 ^@ NM_024675.3(PALB2):c.1838delA (p.Gln613Argfs) http://identifiers.org/clinvar/371826 ^@ NM_007294.3(BRCA1):c.-20+101_-20+102delCGinsGC http://identifiers.org/clinvar/372126 ^@ DSP, HIS618PRO http://identifiers.org/clinvar/372200 ^@ NM_001079515.2(TBCE):c.923delC (p.Leu309Terfs) http://identifiers.org/clinvar/372259 ^@ NM_152416.3(NDUFAF6):c.820A>G (p.Arg274Gly) http://identifiers.org/clinvar/372520 ^@ NM_000348.3(SRD5A2):c.542C>T (p.Pro181Leu) http://identifiers.org/clinvar/372413 ^@ NM_000179.2(MSH6):c.3449T>A (p.Leu1150Ter) http://identifiers.org/clinvar/372572 ^@ NM_004333.4(BRAF):c.1390G>A (p.Gly464Arg) http://identifiers.org/clinvar/372467 ^@ NM_181523.2(PIK3R1):c.1425+1G>A http://identifiers.org/clinvar/372726 ^@ NM_033305.2(VPS13A):c.3889C>T (p.Arg1297Ter) http://identifiers.org/clinvar/372674 ^@ NM_002834.4(PTPN11):c.188_189delATinsGC (p.Tyr63Cys) http://identifiers.org/clinvar/372622 ^@ NM_002693.2(POLG):c.409C>T (p.Gln137Ter) http://identifiers.org/clinvar/372362 ^@ NM_001972.3(ELANE):c.137C>T (p.Ser46Phe) http://identifiers.org/clinvar/372312 ^@ NM_000061.2(BTK):c.1103G>A (p.Gly368Glu) http://identifiers.org/clinvar/372776 ^@ NM_000444.5(PHEX):c.1727_1738delTAATTGTCGGAC (p.Val576_His580delinsAsp) http://identifiers.org/clinvar/374348 ^@ NM_006412.3(AGPAT2):c.492+4_492+7delAGTG http://identifiers.org/clinvar/374416 ^@ NM_021098.2(CACNA1H):c.6995C>T (p.Pro2332Leu) http://identifiers.org/clinvar/374466 ^@ NM_152296.4(ATP1A3):c.1795G>A (p.Ala599Thr) http://identifiers.org/clinvar/374516 ^@ NM_181714.3(LCA5):c.574dupA (p.Thr192Asnfs) http://identifiers.org/clinvar/374566 ^@ NM_201380.3(PLEC):c.5464delC (p.Arg1822Glyfs) http://identifiers.org/clinvar/374616 ^@ NM_000260.3(MYO7A):c.5772C>A (p.Ala1924=) http://identifiers.org/clinvar/374666 ^@ NM_004990.3(MARS):c.1753+7A>G http://identifiers.org/clinvar/374716 ^@ NM_002739.4(PRKCG):c.173G>A (p.Gly58Asp) http://identifiers.org/clinvar/374766 ^@ NM_020822.2(KCNT1):c.1777G>A (p.Val593Met) http://identifiers.org/clinvar/374826 ^@ NM_000142.4(FGFR3):c.1331C>G (p.Ser444Cys) http://identifiers.org/clinvar/374876 ^@ NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) http://identifiers.org/clinvar/374943 ^@ NM_000069.2(CACNA1S):c.4962C>G (p.Asn1654Lys) http://identifiers.org/clinvar/375002 ^@ NM_172107.3(KCNQ2):c.1680_1684dupGCCCT (p.Tyr562Cysfs) http://identifiers.org/clinvar/375328 ^@ NM_000348.3(SRD5A2):c.548-9T>G http://identifiers.org/clinvar/375274 ^@ NM_000157.3(GBA):c.835C>G (p.Leu279Val) http://identifiers.org/clinvar/375379 ^@ NM_018094.4(GSPT2):c.1021G>A (p.Val341Ile) http://identifiers.org/clinvar/375434 ^@ NC_000006.11:g.951385_1832936dup881552 http://identifiers.org/clinvar/375503 ^@ NM_001005463.2(EBF3):c.616C>T (p.Arg206Ter) http://identifiers.org/clinvar/375553 ^@ NM_015213.3(DENND5A):c.3629G>A (p.Arg1210Gln) http://identifiers.org/clinvar/375620 ^@ NM_001110792.1(MECP2):c.1147dupC (p.His383Profs) http://identifiers.org/clinvar/375671 ^@ NM_016239.3(MYO15A):c.10209delGinsCCAGGCCCGTGCAGCTC (p.Gln3403Hisfs) http://identifiers.org/clinvar/375765 ^@ NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu) http://identifiers.org/clinvar/375815 ^@ NM_000527.4(LDLR):c.1358+7G>A http://identifiers.org/clinvar/375865 ^@ NM_001035.2(RYR2):c.5822G>A (p.Arg1941His) http://identifiers.org/clinvar/375918 ^@ NM_000222.2(KIT):c.1706T>G (p.Val569Gly) http://identifiers.org/clinvar/387072 ^@ NM_014946.3(SPAST):c.1087C>T (p.Leu363=) http://identifiers.org/clinvar/384432 ^@ NM_001256850.1(TTN):c.9093C>T (p.His3031=) http://identifiers.org/clinvar/388961 ^@ NM_000090.3(COL3A1):c.3654G>A (p.Pro1218=) http://identifiers.org/clinvar/386672 ^@ NM_001135659.2(NRXN1):c.3838+11G>A http://identifiers.org/clinvar/387322 ^@ NM_001615.3(ACTG2):c.217G>C (p.Glu73Gln) http://identifiers.org/clinvar/384883 ^@ NM_004369.3(COL6A3):c.6211-13T>C http://identifiers.org/clinvar/389661 ^@ NM_198056.2(SCN5A):c.5562C>T (p.Leu1854=) http://identifiers.org/clinvar/392050 ^@ NM_153240.4(NPHP3):c.3592C>T (p.Pro1198Ser) http://identifiers.org/clinvar/391400 ^@ NM_024334.2(TMEM43):c.882+17A>G http://identifiers.org/clinvar/389611 ^@ NM_024996.5(GFM1):c.234+17G>A http://identifiers.org/clinvar/381839 ^@ NM_000179.2(MSH6):c.-47T>C http://identifiers.org/clinvar/377475 ^@ NM_001148.4(ANK2):c.3255G>A (p.Ala1085=) http://identifiers.org/clinvar/386922 ^@ NM_004453.3(ETFDH):c.832-15T>A http://identifiers.org/clinvar/387222 ^@ NM_005051.2(QARS):c.118-5C>T http://identifiers.org/clinvar/386772 ^@ NM_001148.4(ANK2):c.2481T>C (p.Ile827=) http://identifiers.org/clinvar/388861 ^@ NM_024582.4(FAT4):c.14319G>A (p.Pro4773=) http://identifiers.org/clinvar/387772 ^@ NM_024592.4(SRD5A3):c.*6C>T http://identifiers.org/clinvar/382429 ^@ NM_015929.3(LIPT1):c.-40C>T http://identifiers.org/clinvar/388511 ^@ NM_000038.5(APC):c.1408+8A>G http://identifiers.org/clinvar/392150 ^@ NM_001999.3(FBN2):c.7977C>G (p.Ser2659=) http://identifiers.org/clinvar/388711 ^@ NM_001999.3(FBN2):c.4298G>A (p.Arg1433His) http://identifiers.org/clinvar/377925 ^@ NM_032380.4(GFM2):c.777G>A (p.Lys259=) http://identifiers.org/clinvar/383982 ^@ NM_001999.3(FBN2):c.1410C>T (p.Gly470=) http://identifiers.org/clinvar/381688 ^@ NM_003722.4(TP63):c.1805T>C (p.Leu602Pro) http://identifiers.org/clinvar/391650 ^@ NM_001264.4(CDSN):c.1447G>A (p.Ala483Thr) http://identifiers.org/clinvar/388661 ^@ NM_004415.3(DSP):c.2436+2T>C http://identifiers.org/clinvar/381438 ^@ NM_005654.5(NR2F1):c.162C>A (p.Thr54=) http://identifiers.org/clinvar/384232 ^@ NM_000255.3(MUT):c.1083+20T>C http://identifiers.org/clinvar/389561 ^@ NM_033071.3(SYNE1):c.1653+12G>T http://identifiers.org/clinvar/381138 ^@ NM_018100.3(EFHC1):c.1278+15T>C http://identifiers.org/clinvar/384533 ^@ NM_005431.1(XRCC2):c.582G>A (p.Thr194=) http://identifiers.org/clinvar/391900 ^@ NM_004577.3(PSPH):c.650T>C (p.Val217Ala) http://identifiers.org/clinvar/391500 ^@ NM_000038.5(APC):c.3027T>C (p.His1009=) http://identifiers.org/clinvar/392300 ^@ NM_000445.4(PLEC):c.8896C>T (p.Arg2966Trp) http://identifiers.org/clinvar/387672 ^@ NM_006790.2(MYOT):c.1335C>T (p.Asn445=) http://identifiers.org/clinvar/383180 ^@ NM_054027.4(ANKH):c.922C>G (p.Pro308Ala) http://identifiers.org/clinvar/385083 ^@ NM_003165.3(STXBP1):c.88-17G>A http://identifiers.org/clinvar/387422 ^@ NM_004408.3(DNM1):c.2420C>G (p.Ser807Cys) http://identifiers.org/clinvar/382880 ^@ NM_001130438.2(SPTAN1):c.1955G>A (p.Arg652His) http://identifiers.org/clinvar/381788 ^@ NM_002397.4(MEF2C):c.1086C>A (p.Ala362=) http://identifiers.org/clinvar/383281 ^@ NM_000093.4(COL5A1):c.2187+10C>T http://identifiers.org/clinvar/387572 ^@ NM_020822.2(KCNT1):c.2418G>A (p.Ser806=) http://identifiers.org/clinvar/384032 ^@ NM_000742.3(CHRNA2):c.1113G>T (p.Leu371=) http://identifiers.org/clinvar/377875 ^@ NM_000507.3(FBP1):c.826-15G>T http://identifiers.org/clinvar/377825 ^@ NM_018100.3(EFHC1):c.1338C>T (p.Thr446=) http://identifiers.org/clinvar/387022 ^@ NM_000368.4(TSC1):c.508+18T>C http://identifiers.org/clinvar/382830 ^@ NM_000136.2(FANCC):c.474G>A (p.Ala158=) http://identifiers.org/clinvar/389011 ^@ NM_001130438.2(SPTAN1):c.5301A>G (p.Glu1767=) http://identifiers.org/clinvar/386472 ^@ NM_006059.3(LAMC3):c.*4C>A http://identifiers.org/clinvar/133164 ^@ NM_000540.2(RYR1):c.6617C>G (p.Thr2206Arg) http://identifiers.org/clinvar/133214 ^@ NM_000540.2(RYR1):c.7836-70G>C http://identifiers.org/clinvar/133290 ^@ NM_002633.2(PGM1):c.661delC (p.Arg221Valfs) http://identifiers.org/clinvar/133356 ^@ NM_017617.4(NOTCH1):c.5167+228T>G http://identifiers.org/clinvar/133406 ^@ NM_003820.3(TNFRSF14):c.305-320C>A http://identifiers.org/clinvar/133657 ^@ NM_000489.4(ATRX):c.2650G>A (p.Glu884Lys) http://identifiers.org/clinvar/133707 ^@ NM_000057.3(BLM):c.410A>G (p.Lys137Arg) http://identifiers.org/clinvar/133761 ^@ NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) http://identifiers.org/clinvar/133811 ^@ NM_005188.3(CBL):c.2393C>T (p.Ser798Phe) http://identifiers.org/clinvar/133861 ^@ NM_015083.2(CDK12):c.4249A>G (p.Ser1417Gly) http://identifiers.org/clinvar/133911 ^@ NM_015125.4(CIC):c.3553G>A (p.Ala1185Thr) http://identifiers.org/clinvar/133961 ^@ NM_000107.2(DDB2):c.1228G>A (p.Ala410Thr) http://identifiers.org/clinvar/134011 ^@ NM_001077706.2(ECT2L):c.649G>A (p.Val217Met) http://identifiers.org/clinvar/134063 ^@ NM_001429.3(EP300):c.1150T>G (p.Ser384Ala) http://identifiers.org/clinvar/134113 ^@ NM_000400.3(ERCC2):c.294G>C (p.Glu98Asp) http://identifiers.org/clinvar/134163 ^@ NM_000123.3(ERCC5):c.2542C>T (p.Arg848Trp) http://identifiers.org/clinvar/134213 ^@ NM_000401.3(EXT2):c.839C>A (p.Pro280Gln) http://identifiers.org/clinvar/134263 ^@ NM_000135.2(FANCA):c.2977C>A (p.Gln993Lys) http://identifiers.org/clinvar/134314 ^@ NM_033084.4(FANCD2):c.1868A>C (p.Gln623Pro) http://identifiers.org/clinvar/134365 ^@ NM_004629.1(FANCG):c.366G>C (p.Trp122Cys) http://identifiers.org/clinvar/134415 ^@ NM_000143.3(FH):c.77C>T (p.Pro26Leu) http://identifiers.org/clinvar/134465 ^@ NM_032638.4(GATA2):c.481C>G (p.Pro161Ala) http://identifiers.org/clinvar/134515 ^@ NM_001282386.1(IDH1):c.94T>G (p.Phe32Val) http://identifiers.org/clinvar/134565 ^@ NM_000215.3(JAK3):c.1352G>A (p.Arg451Gln) http://identifiers.org/clinvar/134615 ^@ NM_002253.2(KDR):c.895C>T (p.Arg299Trp) http://identifiers.org/clinvar/134718 ^@ NM_003482.3(KMT2D):c.12139G>A (p.Gly4047Arg) http://identifiers.org/clinvar/134768 ^@ NM_170606.2(KMT2C):c.7234C>A (p.Pro2412Thr) http://identifiers.org/clinvar/134818 ^@ NM_170606.2(KMT2C):c.14107G>A (p.Val4703Ile) http://identifiers.org/clinvar/134872 ^@ NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) http://identifiers.org/clinvar/134922 ^@ NM_017617.4(NOTCH1):c.2981A>G (p.Asn994Ser) http://identifiers.org/clinvar/134972 ^@ NM_024408.3(NOTCH2):c.3980A>G (p.Asp1327Gly) http://identifiers.org/clinvar/135022 ^@ NM_006206.4(PDGFRA):c.97A>T (p.Asn33Tyr) http://identifiers.org/clinvar/135073 ^@ NM_014225.5(PPP2R1A):c.75T>G (p.Val25=) http://identifiers.org/clinvar/135205 ^@ NM_014159.6(SETD2):c.5633T>C (p.Phe1878Ser) http://identifiers.org/clinvar/135256 ^@ NM_001128849.1(SMARCA4):c.4211T>G (p.Val1404Gly) http://identifiers.org/clinvar/135306 ^@ NM_001127208.2(TET2):c.3251A>C (p.Gln1084Pro) http://identifiers.org/clinvar/136255 ^@ NM_014049.4(ACAD9):c.1430G>A (p.Arg477Gln) http://identifiers.org/clinvar/136306 ^@ NM_000026.3(ADSL):c.1010+18A>G http://identifiers.org/clinvar/136357 ^@ NM_000032.4(ALAS2):c.198G>A (p.Ala66=) http://identifiers.org/clinvar/186496 ^@ NM_007294.3(BRCA1):c.5573T>C (p.Ile1858Thr) http://identifiers.org/clinvar/187048 ^@ NM_007294.3(BRCA1):c.416dupA (p.Ser140Glufs) http://identifiers.org/clinvar/184357 ^@ NM_000546.5(TP53):c.432G>A (p.Gln144=) http://identifiers.org/clinvar/185157 ^@ NM_000546.5(TP53):c.100C>A (p.Pro34Thr) http://identifiers.org/clinvar/187698 ^@ NM_005359.5(SMAD4):c.1561A>C (p.Thr521Pro) http://identifiers.org/clinvar/185057 ^@ NM_007194.3(CHEK2):c.757A>G (p.Lys253Glu) http://identifiers.org/clinvar/187931 ^@ NM_004409.4(DMPK):c.*224_*226[175] http://identifiers.org/clinvar/187981 ^@ NM_004409.4(DMPK):c.*224_*226[436] http://identifiers.org/clinvar/188031 ^@ NM_004409.4(DMPK):c.*224_*226[80] http://identifiers.org/clinvar/188132 ^@ NM_000038.5(APC):c.5762G>T (p.Gly1921Val) http://identifiers.org/clinvar/188081 ^@ NM_015346.3(ZFYVE26):c.5880G>T (p.Arg1960Ser) http://identifiers.org/clinvar/189042 ^@ NM_000098.2(CPT2):c.38delG (p.Gly13Alafs) http://identifiers.org/clinvar/188991 ^@ NM_000098.2(CPT2):c.1348A>T (p.Arg450Ter) http://identifiers.org/clinvar/188941 ^@ NM_024685.3(BBS10):c.1184dupA (p.His395Glnfs) http://identifiers.org/clinvar/189092 ^@ NM_004004.5(GJB2):c.408C>A (p.Tyr136Ter) http://identifiers.org/clinvar/189192 ^@ NM_000053.3(ATP7B):c.2035delC (p.His679Thrfs) http://identifiers.org/clinvar/189142 ^@ NM_000500.7:c.*28698024_*28698031del8 http://identifiers.org/clinvar/189260 ^@ NM_015270.4(ADCY6):c.3346C>T (p.Arg1116Cys) http://identifiers.org/clinvar/189312 ^@ NM_001098.2(ACO2):c.776G>A (p.Gly259Asp) http://identifiers.org/clinvar/189461 ^@ NM_000314.6(PTEN):c.-1341G>A http://identifiers.org/clinvar/189397 ^@ NM_000314.6(PTEN):c.1066A>T (p.Asn356Tyr) http://identifiers.org/clinvar/189632 ^@ NM_004992.3(MECP2):c.1012_1202del191 (p.Thr338Profs) http://identifiers.org/clinvar/189732 ^@ NM_001110792.1(MECP2):c.907_1080del174 (p.Ile305_Ser362del) http://identifiers.org/clinvar/189532 ^@ NM_003159.2(CDKL5):c.2308C>A (p.Gln770Lys) http://identifiers.org/clinvar/189582 ^@ NM_003159.2(CDKL5):c.2531dupA (p.His844Glnfs) http://identifiers.org/clinvar/189682 ^@ NM_004992.3:c.(?_27)_(*1_?)del http://identifiers.org/clinvar/189783 ^@ NM_138387.3(G6PC3):c.829C>T (p.Gln277Ter) http://identifiers.org/clinvar/189966 ^@ NM_001165963.1(SCN1A):c.5108A>T (p.Asp1703Val) http://identifiers.org/clinvar/189916 ^@ NM_001165963.1(SCN1A):c.3062_3066delAAGGA (p.Lys1021Serfs) http://identifiers.org/clinvar/189866 ^@ NM_001165963.1(SCN1A):c.2946delG (p.Val983Serfs) http://identifiers.org/clinvar/190016 ^@ NM_001165963.1(SCN1A):c.2936G>A (p.Gly979Glu) http://identifiers.org/clinvar/190151 ^@ NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) http://identifiers.org/clinvar/190201 ^@ NM_001110556.1(FLNA):c.623-20_623-12del http://identifiers.org/clinvar/190257 ^@ NM_014943.3(ZHX2):c.1682G>A (p.Arg561Gln) http://identifiers.org/clinvar/190335 ^@ NM_002055.4(GFAP):c.232G>A (p.Asp78Asn) http://identifiers.org/clinvar/190392 ^@ NM_001288953.1(TTC7A):c.1102-2A>G http://identifiers.org/clinvar/227667 ^@ NM_017433.4(MYO3A):c.3730T>C (p.Tyr1244His) http://identifiers.org/clinvar/227717 ^@ NM_032578.3(MYPN):c.2703+13G>A http://identifiers.org/clinvar/228318 ^@ NM_001277269.1(OTOG):c.-14_-13delinsGA http://identifiers.org/clinvar/227767 ^@ NM_001277269.1(OTOG):c.2330-6C>T http://identifiers.org/clinvar/227567 ^@ NM_000256.3(MYBPC3):c.2906-7C>T http://identifiers.org/clinvar/228368 ^@ NM_000256.3(MYBPC3):c.1444dupG (p.Ala482Glyfs) http://identifiers.org/clinvar/227817 ^@ NM_173591.3(OTOGL):c.2524G>A (p.Asp842Asn) http://identifiers.org/clinvar/226525 ^@ NM_001135058.1(COCH):c.1055C>G (p.Thr352Ser) http://identifiers.org/clinvar/227968 ^@ NM_153700.2(STRC):c.4260G>A (p.Lys1420=) http://identifiers.org/clinvar/228018 ^@ NM_000363.4(TNNI3):c.336C>T (p.Tyr112=) http://identifiers.org/clinvar/227617 ^@ NM_002473.5(MYH9):c.5832C>T (p.Asp1944=) http://identifiers.org/clinvar/228268 ^@ NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del http://identifiers.org/clinvar/234675 ^@ NM_001039550.1(DNAJB2):c.230-2A>G http://identifiers.org/clinvar/234725 ^@ NM_004321.7(KIF1A):c.3191T>C (p.Ile1064Thr) http://identifiers.org/clinvar/234876 ^@ NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/234775 ^@ NM_000257.3(MYH7):c.3676C>G (p.Leu1226Val) http://identifiers.org/clinvar/234825 ^@ NM_181882.2(PRX):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/234625 ^@ NM_000214.2(JAG1):c.1716_1717delTG (p.Cys572Terfs) http://identifiers.org/clinvar/232599 ^@ NM_000465.3(BARD1):c.1052C>T (p.Thr351Met) http://identifiers.org/clinvar/233049 ^@ NM_000251.2(MSH2):c.2172G>A (p.Thr724=) http://identifiers.org/clinvar/230009 ^@ NM_000179.2(MSH6):c.2032G>C (p.Glu678Gln) http://identifiers.org/clinvar/232999 ^@ NM_000179.2(MSH6):c.2137G>A (p.Asp713Asn) http://identifiers.org/clinvar/229859 ^@ NM_000179.2(MSH6):c.2770A>T (p.Thr924Ser) http://identifiers.org/clinvar/230509 ^@ NM_000179.2(MSH6):c.2986T>C (p.Leu996=) http://identifiers.org/clinvar/232298 ^@ NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691Leufs) http://identifiers.org/clinvar/231848 ^@ NM_000038.5(APC):c.1179A>G (p.Ser393=) http://identifiers.org/clinvar/230959 ^@ NM_000038.5(APC):c.1417C>T (p.Gln473Ter) http://identifiers.org/clinvar/232098 ^@ NM_000038.5(APC):c.1984C>A (p.Leu662Ile) http://identifiers.org/clinvar/263884 ^@ NM_002474.2(MYH11):c.5596G>A (p.Glu1866Lys) http://identifiers.org/clinvar/263784 ^@ NM_006440.4(TXNRD2):c.1150G>A (p.Gly384Ser) http://identifiers.org/clinvar/264910 ^@ NM_000059.3(BRCA2):c.9256+6908dup http://identifiers.org/clinvar/265012 ^@ NM_000350.2(ABCA4):c.1906C>T (p.Gln636Ter) http://identifiers.org/clinvar/265115 ^@ NM_022336.3(EDAR):c.1121G>A (p.Trp374Ter) http://identifiers.org/clinvar/265165 ^@ NM_021911.2(GABRB2):c.845T>C (p.Val282Ala) http://identifiers.org/clinvar/265621 ^@ NM_000503.5(EYA1):c.1117_1118delCA (p.His373Phefs) http://identifiers.org/clinvar/265370 ^@ NM_000118.3(ENG):c.360+1G>A http://identifiers.org/clinvar/265269 ^@ NM_000359.2(TGM1):c.872G>A (p.Gly291Asp) http://identifiers.org/clinvar/265571 ^@ NM_024675.3(PALB2):c.3234T>A (p.Cys1078Ter) http://identifiers.org/clinvar/265520 ^@ NM_002163.2(IRF8):c.9C>G (p.Asp3Glu) http://identifiers.org/clinvar/265420 ^@ NM_003119.3(SPG7):c.1617delC (p.Val540Cysfs) http://identifiers.org/clinvar/265217 ^@ NM_005557.3(KRT16):c.379C>G (p.Arg127Gly) http://identifiers.org/clinvar/265065 ^@ NM_001127221.1(CACNA1A):c.6476G>A (p.Arg2159His) http://identifiers.org/clinvar/265671 ^@ NM_003588.3(CUL4B):c.2243_2244delTT (p.Phe748Serfs) http://identifiers.org/clinvar/265470 ^@ NM_000397.3(CYBB):c.1498G>C (p.Asp500His) http://identifiers.org/clinvar/265320 ^@ NM_003688.3(CASK):c.609G>A (p.Trp203Ter) http://identifiers.org/clinvar/265753 ^@ NM_024818.4(UBA5):c.1165G>T (p.Asp389Tyr) http://identifiers.org/clinvar/265858 ^@ NM_000451.3(SHOX):c.528G>C (p.Glu176Asp) http://identifiers.org/clinvar/265910 ^@ NM_000527.4(LDLR):c.*52G>A http://identifiers.org/clinvar/265964 ^@ NM_001256865.1(DNAJC6):c.2326C>T (p.Gln776Ter) http://identifiers.org/clinvar/266092 ^@ NM_016464.4(TMEM138):c.134A>G (p.Gln45Arg) http://identifiers.org/clinvar/267081 ^@ NM_000059.3(BRCA2):c.8393dupC (p.Arg2799Terfs) http://identifiers.org/clinvar/267131 ^@ NM_000059.3(BRCA2):c.9025dupT (p.Tyr3009Leufs) http://identifiers.org/clinvar/266392 ^@ NM_007294.3(BRCA1):c.3605dupA (p.Tyr1202Terfs) http://identifiers.org/clinvar/266342 ^@ NM_007294.3(BRCA1):c.3205delC (p.Gln1069Lysfs) http://identifiers.org/clinvar/266292 ^@ NM_007294.3(BRCA1):c.2683_2693delCAAAGTCCAAA (p.Gln895Serfs) http://identifiers.org/clinvar/266242 ^@ NM_007294.3(BRCA1):c.2222_2223delCT (p.Ser741Terfs) http://identifiers.org/clinvar/266192 ^@ NM_007294.3(BRCA1):c.1820_1823delAAAA (p.Lys607Argfs) http://identifiers.org/clinvar/266142 ^@ NM_007294.3(BRCA1):c.1179_1180insT (p.Gly394Trpfs) http://identifiers.org/clinvar/266442 ^@ NM_007294.3(BRCA1):c.407delG (p.Arg136Asnfs) http://identifiers.org/clinvar/267192 ^@ NC_000011.8:g.31199000_31914000del715001 http://identifiers.org/clinvar/267251 ^@ NM_015247.2(CYLD):c.2350+1G>T http://identifiers.org/clinvar/267328 ^@ NC_000007.14:g.(?_105532818)_(105547339_?)dup http://identifiers.org/clinvar/267400 ^@ c.2249ins9 http://identifiers.org/clinvar/267482 ^@ NC_000016.9:g.(?_87183661)_(89520803_?)del http://identifiers.org/clinvar/267742 ^@ NG_009057.1:g.68801_73246del4446 http://identifiers.org/clinvar/267688 ^@ NM_000059.3(BRCA2):c.794-?_6937+?del http://identifiers.org/clinvar/267638 ^@ NM_000059.3(BRCA2):c.316+2T>G http://identifiers.org/clinvar/267588 ^@ NM_007294.3(BRCA1):c.5277+833_5277+1671delins141 http://identifiers.org/clinvar/267538 ^@ NM_007294.3(BRCA1):c.438_439ins25 (p.?) http://identifiers.org/clinvar/267817 ^@ 46;XY;t(1;5)(p35.3;q31.3)dn http://identifiers.org/clinvar/267868 ^@ 46;XY;inv(9)(q22.3q34.11)dn http://identifiers.org/clinvar/267918 ^@ 46;XX;t(6;20)(q25.1;p13)dn http://identifiers.org/clinvar/267968 ^@ 46;XX;inv(7)(q21.2q34) http://identifiers.org/clinvar/268018 ^@ 46;XY;t(2;10)(p25;q26)dn http://identifiers.org/clinvar/268071 ^@ NC_000013.10:g.(?_23515553)_(24927971_?)del http://identifiers.org/clinvar/268135 ^@ NM_005506.3(SCARB2):c.111delC (p.Ile37Metfs) http://identifiers.org/clinvar/268206 ^@ NM_024757.4(EHMT1):c.3310G>A (p.Glu1104Lys) http://identifiers.org/clinvar/279614 ^@ NM_030957.3(ADAMTS10):c.2350C>T (p.Gln784Ter) http://identifiers.org/clinvar/291272 ^@ NM_002968.2(SALL1):c.727C>T (p.Gln243Ter) http://identifiers.org/clinvar/291629 ^@ NM_015074.3(KIF1B):c.*2743G>A http://identifiers.org/clinvar/291679 ^@ NM_004565.2(PEX14):c.855C>G (p.Gly285=) http://identifiers.org/clinvar/294328 ^@ NM_031935.2(HMCN1):c.*884C>G http://identifiers.org/clinvar/294478 ^@ NM_000186.3(CFH):c.-36G>C http://identifiers.org/clinvar/294578 ^@ NM_001994.2(F13B):c.1098C>T (p.Ser366=) http://identifiers.org/clinvar/294728 ^@ NM_000069.2(CACNA1S):c.3662A>T (p.Asn1221Ile) http://identifiers.org/clinvar/295028 ^@ NM_032409.2(PINK1):c.*655T>C http://identifiers.org/clinvar/295128 ^@ NM_000228.2(LAMB3):c.813C>T (p.Thr271=) http://identifiers.org/clinvar/336023 ^@ NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) http://identifiers.org/clinvar/343670 ^@ NM_031850.3(AGTR1):c.445G>A (p.Ala149Thr) http://identifiers.org/clinvar/343720 ^@ NM_032383.4(HPS3):c.*129_*134dupCACACA http://identifiers.org/clinvar/345059 ^@ NM_001106.3(ACVR2B):c.*9737C>T http://identifiers.org/clinvar/344120 ^@ NM_005025.4(SERPINI1):c.51A>G (p.Thr17=) http://identifiers.org/clinvar/345109 ^@ NM_198056.2(SCN5A):c.*73C>A http://identifiers.org/clinvar/344170 ^@ NM_000340.1(SLC2A2):c.15+6G>A http://identifiers.org/clinvar/345259 ^@ NM_016006.4(ABHD5):c.*2304G>T http://identifiers.org/clinvar/345409 ^@ NM_020208.3(SLC6A20):c.786C>T (p.Phe262=) http://identifiers.org/clinvar/345709 ^@ NM_002222.5(ITPR1):c.1962-7T>G http://identifiers.org/clinvar/337130 ^@ NM_013247.4(HTRA2):c.507-10T>A http://identifiers.org/clinvar/345659 ^@ NM_015175.2(NBEAL2):c.4121G>A (p.Gly1374Asp) http://identifiers.org/clinvar/345909 ^@ NM_002222.5(ITPR1):c.*814_*817dupATCA http://identifiers.org/clinvar/345009 ^@ NM_001106.3(ACVR2B):c.*6173A>C http://identifiers.org/clinvar/337230 ^@ NM_000821.6(GGCX):c.*1245G>C http://identifiers.org/clinvar/337280 ^@ NM_000821.6(GGCX):c.68A>G (p.Glu23Gly) http://identifiers.org/clinvar/337480 ^@ NM_017849.3(TMEM127):c.*1638G>C http://identifiers.org/clinvar/345159 ^@ NM_017875.2(SLC25A38):c.*588T>A http://identifiers.org/clinvar/345309 ^@ NM_182760.3(SUMF1):c.*218T>C http://identifiers.org/clinvar/337630 ^@ NM_001079.3(ZAP70):c.606C>T (p.Leu202=) http://identifiers.org/clinvar/345359 ^@ NM_020208.3(SLC6A20):c.*2230C>G http://identifiers.org/clinvar/337580 ^@ NM_020184.3(CNNM4):c.253A>G (p.Asn85Asp) http://identifiers.org/clinvar/345459 ^@ NM_024513.3(FYCO1):c.*2406G>A http://identifiers.org/clinvar/346609 ^@ NM_032682.5(FOXP1):c.*1189A>G http://identifiers.org/clinvar/345509 ^@ NM_024513.3(FYCO1):c.2552G>A (p.Arg851His) http://identifiers.org/clinvar/345609 ^@ NM_015175.2(NBEAL2):c.-76G>A http://identifiers.org/clinvar/346059 ^@ NM_144499.2(GNAT1):c.*410A>G http://identifiers.org/clinvar/346109 ^@ NM_004656.3(BAP1):c.*552C>A http://identifiers.org/clinvar/346159 ^@ NM_052859.3(RFT1):c.*2161C>T http://identifiers.org/clinvar/346209 ^@ NM_003392.4(WNT5A):c.*4075A>T http://identifiers.org/clinvar/347598 ^@ NM_172250.2(MMAA):c.128C>T (p.Pro43Leu) http://identifiers.org/clinvar/347698 ^@ NM_000901.4(NR3C2):c.*1327C>A http://identifiers.org/clinvar/347798 ^@ NM_005141.4(FGB):c.*1544T>C http://identifiers.org/clinvar/347848 ^@ NM_004744.4(LRAT):c.205C>T (p.Arg69Cys) http://identifiers.org/clinvar/347898 ^@ NM_001080522.2(CC2D2A):c.3399-15T>C http://identifiers.org/clinvar/346509 ^@ NM_000248.3(MITF):c.*379T>C http://identifiers.org/clinvar/346559 ^@ NM_032682.5(FOXP1):c.*3417C>T http://identifiers.org/clinvar/343570 ^@ NM_004628.4(XPC):c.1616A>G (p.Glu539Gly) http://identifiers.org/clinvar/348098 ^@ NM_012224.2(NEK1):c.2949G>A (p.Pro983=) http://identifiers.org/clinvar/343620 ^@ NM_001184.3(ATR):c.1006C>T (p.Arg336Trp) http://identifiers.org/clinvar/348198 ^@ NM_000860.5(HPGD):c.*54A>T http://identifiers.org/clinvar/343520 ^@ NM_024334.2(TMEM43):c.*719G>T http://identifiers.org/clinvar/343770 ^@ NM_000096.3(CP):c.1348+9T>C http://identifiers.org/clinvar/348348 ^@ NM_207352.3(CYP4V2):c.*1123_*1127delTATTA http://identifiers.org/clinvar/343920 ^@ NM_024996.5(GFM1):c.56C>T (p.Ala19Val) http://identifiers.org/clinvar/343970 ^@ NM_020800.2(IFT80):c.1205G>A (p.Arg402His) http://identifiers.org/clinvar/358515 ^@ NM_000441.1(SLC26A4):c.*868G>A http://identifiers.org/clinvar/358565 ^@ NM_000108.4(DLD):c.116C>T (p.Pro39Leu) http://identifiers.org/clinvar/362553 ^@ NM_003018.3(SFTPC):c.142G>A (p.Val48Met) http://identifiers.org/clinvar/362653 ^@ NM_000825.3(GNRH1):c.-18T>C http://identifiers.org/clinvar/358965 ^@ NM_005989.3(AKR1D1):c.*507G>A http://identifiers.org/clinvar/363103 ^@ NM_006749.4(SLC20A2):c.-534A>T http://identifiers.org/clinvar/363203 ^@ NM_005914.3(MCM4):c.-320dupC http://identifiers.org/clinvar/363303 ^@ NM_006269.1(RP1):c.4784G>A (p.Arg1595Gln) http://identifiers.org/clinvar/363553 ^@ NM_000370.3(TTPA):c.*364A>T http://identifiers.org/clinvar/363753 ^@ NM_018972.2(GDAP1):c.*1878G>T http://identifiers.org/clinvar/355576 ^@ NM_003630.2(PEX3):c.249A>G (p.Gln83=) http://identifiers.org/clinvar/355826 ^@ NM_033071.3(SYNE1):c.22022G>A (p.Arg7341His) http://identifiers.org/clinvar/355626 ^@ NM_003764.3(STX11):c.*1540dupT http://identifiers.org/clinvar/360404 ^@ NM_014855.2(AP5Z1):c.*2338G>A http://identifiers.org/clinvar/355676 ^@ NM_203395.2(IYD):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/355976 ^@ NM_032122.4(DTNBP1):c.-109G>A http://identifiers.org/clinvar/355776 ^@ NM_203395.2(IYD):c.*5480T>C http://identifiers.org/clinvar/355876 ^@ NM_033071.3(SYNE1):c.13208G>A (p.Arg4403Gln) http://identifiers.org/clinvar/355926 ^@ NM_033071.3(SYNE1):c.3973G>C (p.Glu1325Gln) http://identifiers.org/clinvar/365092 ^@ NM_000118.3(ENG):c.524-15C>T http://identifiers.org/clinvar/360804 ^@ NM_000443.3(ABCB4):c.-6-4T>C http://identifiers.org/clinvar/360904 ^@ NM_194456.1(KRIT1):c.-628T>A http://identifiers.org/clinvar/365242 ^@ NM_054012.3(ASS1):c.-233G>C http://identifiers.org/clinvar/360954 ^@ NM_000089.3(COL1A2):c.1252-6delG http://identifiers.org/clinvar/356276 ^@ NM_001710.5(CFB):c.656A>T (p.Gln219Leu) http://identifiers.org/clinvar/356326 ^@ NM_006929.4(SKIV2L):c.1200A>G (p.Thr400=) http://identifiers.org/clinvar/365442 ^@ NM_000368.4(TSC1):c.*2651G>T http://identifiers.org/clinvar/365592 ^@ NM_014694.3(ADAMTSL2):c.1242C>A (p.Ala414=) http://identifiers.org/clinvar/356576 ^@ NM_001145717.1(PNPLA1):c.1578A>C (p.Lys526Asn) http://identifiers.org/clinvar/365692 ^@ NM_000787.3(DBH):c.*459A>G http://identifiers.org/clinvar/361404 ^@ NM_178857.5(RP1L1):c.547G>A (p.Gly183Ser) http://identifiers.org/clinvar/356676 ^@ NM_018965.3(TREM2):c.632T>C (p.Leu211Pro) http://identifiers.org/clinvar/365742 ^@ NM_000093.4(COL5A1):c.*145G>A http://identifiers.org/clinvar/356826 ^@ NM_014780.4(CUL7):c.4295-14C>A http://identifiers.org/clinvar/356876 ^@ NM_203290.3(POLR1C):c.561G>A (p.Glu187=) http://identifiers.org/clinvar/311243 ^@ NM_000131.4(F7):c.*605G>A http://identifiers.org/clinvar/311393 ^@ NM_006783.4(GJB6):c.-256G>A http://identifiers.org/clinvar/303734 ^@ NM_000525.3(KCNJ11):c.1034C>T (p.Thr345Met) http://identifiers.org/clinvar/303784 ^@ NM_000352.4(ABCC8):c.853C>T (p.Arg285Trp) http://identifiers.org/clinvar/367332 ^@ NM_017662.4(TRPM6):c.-99G>A http://identifiers.org/clinvar/312432 ^@ NM_006493.2(CLN5):c.*177A>C http://identifiers.org/clinvar/364053 ^@ NM_014290.2(TDRD7):c.-147G>T http://identifiers.org/clinvar/304434 ^@ NM_024426.4(WT1):c.-101T>C http://identifiers.org/clinvar/312932 ^@ NM_006177.3(NRL):c.*480A>G http://identifiers.org/clinvar/313082 ^@ NM_021914.7(CFL2):c.*1682A>T http://identifiers.org/clinvar/304684 ^@ NM_021926.3(ALX4):c.*782A>G http://identifiers.org/clinvar/313332 ^@ NM_002863.4(PYGL):c.603G>T (p.Val201=) http://identifiers.org/clinvar/304884 ^@ NM_002334.3(LRP4):c.1638A>G (p.Lys546=) http://identifiers.org/clinvar/313582 ^@ NM_182914.2(SYNE2):c.12942G>A (p.Ala4314=) http://identifiers.org/clinvar/299406 ^@ NM_001081.3(CUBN):c.8233G>A (p.Asp2745Asn) http://identifiers.org/clinvar/304934 ^@ NM_000256.3(MYBPC3):c.*327C>A http://identifiers.org/clinvar/313682 ^@ NM_182914.2(SYNE2):c.*489C>A http://identifiers.org/clinvar/299456 ^@ NM_001081.3(CUBN):c.5796A>G (p.Glu1932=) http://identifiers.org/clinvar/313732 ^@ NM_000347.5(SPTB):c.4076G>A (p.Arg1359Gln) http://identifiers.org/clinvar/299056 ^@ NM_002775.4(HTRA1):c.*191G>T http://identifiers.org/clinvar/299556 ^@ NM_201590.2(CACNB2):c.537T>C (p.Asp179=) http://identifiers.org/clinvar/299106 ^@ NM_001609.3(ACADSB):c.*545G>A http://identifiers.org/clinvar/313932 ^@ NM_015346.3(ZFYVE26):c.249G>T (p.Leu83=) http://identifiers.org/clinvar/299606 ^@ NM_201590.2(CACNB2):c.*976G>A http://identifiers.org/clinvar/299156 ^@ NM_001609.3(ACADSB):c.*3993T>A http://identifiers.org/clinvar/299656 ^@ NM_017433.4(MYO3A):c.1583T>C (p.Ile528Thr) http://identifiers.org/clinvar/314032 ^@ NM_031427.3(DNAL1):c.*818A>G http://identifiers.org/clinvar/299206 ^@ NM_021980.4(OPTN):c.-98C>A http://identifiers.org/clinvar/314082 ^@ NM_031427.3(DNAL1):c.*3945A>C http://identifiers.org/clinvar/299756 ^@ NM_014915.2(ANKRD26):c.793G>A (p.Asp265Asn) http://identifiers.org/clinvar/314282 ^@ NM_000428.2(LTBP2):c.3527-3C>A http://identifiers.org/clinvar/300006 ^@ NM_000124.3(ERCC6):c.*1933A>G http://identifiers.org/clinvar/299706 ^@ NM_014317.4(PDSS1):c.*157T>G http://identifiers.org/clinvar/300256 ^@ NM_000417.2(IL2RA):c.516C>T (p.His172=) http://identifiers.org/clinvar/315321 ^@ NM_139057.3(ADAMTS17):c.228C>G (p.Pro76=) http://identifiers.org/clinvar/299856 ^@ NM_021252.4(RAB18):c.*2449A>G http://identifiers.org/clinvar/315371 ^@ NM_144599.4(NIPA1):c.*2780G>T http://identifiers.org/clinvar/315571 ^@ NM_133647.1(SLC12A6):c.*2358_*2360delGGA http://identifiers.org/clinvar/299956 ^@ NM_002900.2(RBP3):c.2921G>A (p.Arg974Lys) http://identifiers.org/clinvar/315821 ^@ NM_002225.3(IVD):c.*1577C>G http://identifiers.org/clinvar/311043 ^@ NM_001845.5(COL4A1):c.3198+10G>A http://identifiers.org/clinvar/311193 ^@ NM_001846.3(COL4A2):c.4968C>T (p.Ile1656=) http://identifiers.org/clinvar/310238 ^@ NM_014319.4(LEMD3):c.1705C>T (p.Pro569Ser) http://identifiers.org/clinvar/310438 ^@ NM_001131025.1(PEX5):c.*81A>C http://identifiers.org/clinvar/310743 ^@ NM_018979.3(WNK1):c.2052A>G (p.Ala684=) http://identifiers.org/clinvar/337880 ^@ NM_000361.2(THBD):c.*26C>T http://identifiers.org/clinvar/310943 ^@ NM_000123.3(ERCC5):c.3492C>A (p.Thr1164=) http://identifiers.org/clinvar/310993 ^@ NM_002312.3(LIG4):c.437A>G (p.Gln146Arg) http://identifiers.org/clinvar/338030 ^@ NM_032609.2(COX4I2):c.-70C>T http://identifiers.org/clinvar/311093 ^@ NM_001846.3(COL4A2):c.-133A>G http://identifiers.org/clinvar/338280 ^@ NM_000687.3(AHCY):c.61G>A (p.Ala21Thr) http://identifiers.org/clinvar/311293 ^@ NM_021954.3(GJA3):c.*2831A>G http://identifiers.org/clinvar/311443 ^@ NM_002010.2(FGF9):c.*435C>T http://identifiers.org/clinvar/312982 ^@ NM_000359.2(TGM1):c.941G>A (p.Gly314Asp) http://identifiers.org/clinvar/313382 ^@ NM_000161.2(GCH1):c.*612C>T http://identifiers.org/clinvar/339270 ^@ NM_001853.3(COL9A3):c.309+11G>A http://identifiers.org/clinvar/313482 ^@ NM_182914.2(SYNE2):c.22C>T (p.Pro8Ser) http://identifiers.org/clinvar/339420 ^@ NM_025219.2(DNAJC5):c.*3116T>A http://identifiers.org/clinvar/339670 ^@ NM_000454.4(SOD1):c.*339C>T http://identifiers.org/clinvar/321263 ^@ NM_000303.2(PMM2):c.*1195G>T http://identifiers.org/clinvar/321163 ^@ NM_000485.2(APRT):c.316G>A (p.Gly106Arg) http://identifiers.org/clinvar/313832 ^@ NM_152443.2(RDH12):c.-275+12C>T http://identifiers.org/clinvar/321363 ^@ NM_000135.2(FANCA):c.1007-7C>G http://identifiers.org/clinvar/313982 ^@ NM_000021.3(PSEN1):c.*2330G>T http://identifiers.org/clinvar/340020 ^@ NM_020639.2(RIPK4):c.1425G>A (p.Leu475=) http://identifiers.org/clinvar/314182 ^@ NM_005589.3(ALDH6A1):c.189C>T (p.Ala63=) http://identifiers.org/clinvar/321717 ^@ NM_002470.3(MYH3):c.5299G>A (p.Ala1767Thr) http://identifiers.org/clinvar/340320 ^@ NM_001848.2(COL6A1):c.1612-15C>G http://identifiers.org/clinvar/340370 ^@ NM_001849.3(COL6A2):c.1734+14C>T http://identifiers.org/clinvar/326755 ^@ NM_015559.2(SETBP1):c.3714C>T (p.Asp1238=) http://identifiers.org/clinvar/326805 ^@ NM_015559.2(SETBP1):c.*3573G>A http://identifiers.org/clinvar/328544 ^@ NM_000453.2(SLC5A5):c.*14C>T http://identifiers.org/clinvar/328694 ^@ NM_001031726.3(C19orf12):c.*1595G>A http://identifiers.org/clinvar/327005 ^@ NM_001080467.2(MYO5B):c.4834G>A (p.Val1612Met) http://identifiers.org/clinvar/327205 ^@ NM_005359.5(SMAD4):c.*5757dupT http://identifiers.org/clinvar/328994 ^@ NM_000540.2(RYR1):c.1441-12T>C http://identifiers.org/clinvar/329094 ^@ NM_000540.2(RYR1):c.9846C>T (p.Pro3282=) http://identifiers.org/clinvar/368721 ^@ NM_153252.4(BRWD3):c.*248_*251delCACA http://identifiers.org/clinvar/327944 ^@ NM_003331.4(TYK2):c.1869C>T (p.Asp623=) http://identifiers.org/clinvar/328294 ^@ NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) http://identifiers.org/clinvar/328494 ^@ NM_000215.3(JAK3):c.*138G>C http://identifiers.org/clinvar/328794 ^@ NM_000285.3(PEPD):c.1281G>A (p.Ala427=) http://identifiers.org/clinvar/337980 ^@ NM_001042472.2(ABHD12):c.*454G>A http://identifiers.org/clinvar/338180 ^@ NM_006892.3(DNMT3B):c.1906-5T>C http://identifiers.org/clinvar/339070 ^@ NM_001001433.2(STX16):c.*1160G>A http://identifiers.org/clinvar/339120 ^@ NM_207034.2(EDN3):c.-44C>T http://identifiers.org/clinvar/339220 ^@ NM_017671.4(FERMT1):c.1045A>C (p.Asn349His) http://identifiers.org/clinvar/339520 ^@ NM_015192.3(PLCB1):c.*372A>G http://identifiers.org/clinvar/339570 ^@ NM_000933.3(PLCB4):c.1849C>T (p.Arg617Trp) http://identifiers.org/clinvar/339620 ^@ NM_000484.3(APP):c.*967G>A http://identifiers.org/clinvar/339820 ^@ NM_001754.4(RUNX1):c.*2780A>G http://identifiers.org/clinvar/337730 ^@ NM_000214.2(JAG1):c.*756A>G http://identifiers.org/clinvar/339970 ^@ NM_000411.6(HLCS):c.59A>G (p.His20Arg) http://identifiers.org/clinvar/338230 ^@ NM_032034.3(SLC4A11):c.*225C>T http://identifiers.org/clinvar/338130 ^@ NM_015338.5(ASXL1):c.*682G>A http://identifiers.org/clinvar/340270 ^@ NM_130445.3(COL18A1):c.3673G>A (p.Val1225Ile) http://identifiers.org/clinvar/340621 ^@ NM_014339.6(IL17RA):c.*352G>A http://identifiers.org/clinvar/340721 ^@ NM_014339.6(IL17RA):c.*5036C>T http://identifiers.org/clinvar/339170 ^@ NM_017671.4(FERMT1):c.*2123dupA http://identifiers.org/clinvar/339720 ^@ NM_172201.1(KCNE2):c.*240G>C http://identifiers.org/clinvar/339770 ^@ NM_000219.5(KCNE1):c.*91delC http://identifiers.org/clinvar/339870 ^@ NM_001754.4(RUNX1):c.*107G>A http://identifiers.org/clinvar/381488 ^@ NM_032578.3(MYPN):c.395C>T (p.Pro132Leu) http://identifiers.org/clinvar/392550 ^@ NM_000093.4(COL5A1):c.3906+15G>A http://identifiers.org/clinvar/389711 ^@ NM_015634.3(KIF1BP):c.-20G>A http://identifiers.org/clinvar/389261 ^@ NM_201590.2(CACNB2):c.642+123C>T http://identifiers.org/clinvar/378381 ^@ NM_000535.6(PMS2):c.23+17G>A http://identifiers.org/clinvar/392000 ^@ NM_001909.4(CTSD):c.472-15T>C http://identifiers.org/clinvar/386122 ^@ NM_001204824.1(KCNQ3):c.1440-13C>T http://identifiers.org/clinvar/391350 ^@ NM_004329.2(BMPR1A):c.1215A>G (p.Lys405=) http://identifiers.org/clinvar/386822 ^@ NM_001080463.1(DYNC2H1):c.7708+9A>G http://identifiers.org/clinvar/392650 ^@ NM_000051.3(ATM):c.5715A>G (p.Ser1905=) http://identifiers.org/clinvar/383381 ^@ NM_006231.3(POLE):c.2027-12C>G http://identifiers.org/clinvar/381088 ^@ NM_000256.3(MYBPC3):c.2905+9C>T http://identifiers.org/clinvar/391950 ^@ NM_000368.4(TSC1):c.2322G>A (p.Lys774=) http://identifiers.org/clinvar/386172 ^@ NM_000368.4(TSC1):c.249C>T (p.Ala83=) http://identifiers.org/clinvar/389311 ^@ NM_016464.4(TMEM138):c.377-11C>T http://identifiers.org/clinvar/385033 ^@ NM_004990.3(MARS):c.626G>A (p.Ser209Asn) http://identifiers.org/clinvar/377725 ^@ NM_000093.4(COL5A1):c.2800-18C>T http://identifiers.org/clinvar/382630 ^@ NM_002180.2(IGHMBP2):c.2784+7C>T http://identifiers.org/clinvar/387622 ^@ NM_006231.3(POLE):c.1137C>T (p.His379=) http://identifiers.org/clinvar/381588 ^@ NM_000545.6(HNF1A):c.599G>A (p.Arg200Gln) http://identifiers.org/clinvar/389211 ^@ NM_022489.3(INF2):c.2490-20C>T http://identifiers.org/clinvar/382780 ^@ NM_006231.3(POLE):c.3459+13T>G http://identifiers.org/clinvar/388761 ^@ NM_004990.3(MARS):c.1294-5C>T http://identifiers.org/clinvar/391600 ^@ NM_152594.2(SPRED1):c.74A>G (p.Asp25Gly) http://identifiers.org/clinvar/384683 ^@ NM_020778.4(ALPK3):c.4317C>T (p.Asp1439=) http://identifiers.org/clinvar/381338 ^@ NM_002693.2(POLG):c.2118G>A (p.Glu706=) http://identifiers.org/clinvar/392450 ^@ NM_213599.2(ANO5):c.170G>A (p.Arg57Gln) http://identifiers.org/clinvar/391850 ^@ NM_152264.4(SLC39A13):c.1038G>T (p.Leu346=) http://identifiers.org/clinvar/391700 ^@ NM_005343.3(HRAS):c.179G>T (p.Gly60Val) http://identifiers.org/clinvar/381538 ^@ NM_000138.4(FBN1):c.1278G>A (p.Pro426=) http://identifiers.org/clinvar/388561 ^@ NM_004360.4(CDH1):c.1937-4C>G http://identifiers.org/clinvar/387822 ^@ NM_001482.2(GATM):c.675+3G>C http://identifiers.org/clinvar/381188 ^@ NM_000138.4(FBN1):c.5788+19G>A http://identifiers.org/clinvar/387472 ^@ NM_001127464.2(ZNF469):c.11137G>A (p.Gly3713Ser) http://identifiers.org/clinvar/387122 ^@ NM_006231.3(POLE):c.423+20T>C http://identifiers.org/clinvar/47937 ^@ NM_144612.6(LOXHD1):c.4148C>T (p.Thr1383Met) http://identifiers.org/clinvar/47987 ^@ NM_153676.3(USH1C):c.2013+5T>C http://identifiers.org/clinvar/48039 ^@ NM_005572.3(LMNA):c.1442A>G (p.Tyr481Cys) http://identifiers.org/clinvar/48089 ^@ NM_005572.3(LMNA):c.863C>G (p.Ala288Gly) http://identifiers.org/clinvar/48139 ^@ NM_173477.4(USH1G):c.83C>T (p.Pro28Leu) http://identifiers.org/clinvar/48189 ^@ NM_194322.2(OTOF):c.65T>C (p.Leu22Pro) http://identifiers.org/clinvar/48239 ^@ NM_194248.2(OTOF):c.4629-9C>T http://identifiers.org/clinvar/48340 ^@ NM_206883.2(SLC26A5):c.498T>C (p.Asn166=) http://identifiers.org/clinvar/48390 ^@ NM_206933.2(USH2A):c.12067-2A>G http://identifiers.org/clinvar/48440 ^@ NM_206933.2(USH2A):c.14516C>T (p.Thr4839Met) http://identifiers.org/clinvar/48490 ^@ NM_206933.2(USH2A):c.2732C>A (p.Thr911Asn) http://identifiers.org/clinvar/3 ^@ NM_014855.2(AP5Z1):c.1413_1426delGGACCTGCCCTGCT (p.Leu473Glyfs) http://identifiers.org/clinvar/58 ^@ NM_006642.3(SDCCAG8):c.1339dupG (p.Glu447Glyfs) http://identifiers.org/clinvar/109 ^@ NM_017849.3(TMEM127):c.245-1G>T http://identifiers.org/clinvar/159 ^@ NM_000274.3(OAT):c.1124G>C (p.Gly375Ala) http://identifiers.org/clinvar/173 ^@ NM_000274.3(OAT):c.1201G>T (p.Gly401Ter) http://identifiers.org/clinvar/245 ^@ NM_000398.6(CYB5R3):c.464_547del http://identifiers.org/clinvar/259 ^@ NM_004628.4(XPC):c.1735C>T (p.Arg579Ter) http://identifiers.org/clinvar/324 ^@ NM_012338.3(TSPAN12):c.302T>A (p.Leu101His) http://identifiers.org/clinvar/361 ^@ NM_001042492.2(NF1):c.3721C>T (p.Arg1241Ter) http://identifiers.org/clinvar/511 ^@ NM_001142446.1(ANK1):c.1618dupC (p.Leu540Profs) http://identifiers.org/clinvar/702 ^@ GALNS, 2-BP DEL, 1343CA http://identifiers.org/clinvar/711 ^@ NM_000512.4(GALNS):c.689G>A (p.Trp230Ter) http://identifiers.org/clinvar/725 ^@ NM_000015.2(NAT2):c.857G>A (p.Gly286Glu) http://identifiers.org/clinvar/793 ^@ NM_000038.5(APC):c.730_731delAG (p.Arg244Valfs) http://identifiers.org/clinvar/802 ^@ NM_000038.5(APC):c.3359G>A (p.Gly1120Glu) http://identifiers.org/clinvar/834 ^@ APC deletion http://identifiers.org/clinvar/1108 ^@ NM_000642.2(AGL):c.3980G>A (p.Trp1327Ter) http://identifiers.org/clinvar/1177 ^@ NM_000497.3(CYP11B1):c.397A>C (p.Asn133His) http://identifiers.org/clinvar/1221 ^@ NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg) http://identifiers.org/clinvar/1272 ^@ GALNT12, TYR395TER http://identifiers.org/clinvar/1317 ^@ SLC4A11, 8-BP DUP, NT2233 http://identifiers.org/clinvar/1362 ^@ NM_148960.2(CLDN19):c.169C>G (p.Gln57Glu) http://identifiers.org/clinvar/1408 ^@ NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) http://identifiers.org/clinvar/1453 ^@ NM_000190.3(HMBS):c.593G>A (p.Trp198Ter) http://identifiers.org/clinvar/1499 ^@ NM_004035.6(ACOX1):c.832A>G (p.Met278Val) http://identifiers.org/clinvar/1544 ^@ NM_000237.2(LPL):c.596C>G (p.Ser199Cys) http://identifiers.org/clinvar/1639 ^@ NM_000382.2(ALDH3A2):c.641G>A (p.Cys214Tyr) http://identifiers.org/clinvar/1684 ^@ NM_000528.3(MAN2B1):c.215A>T (p.His72Leu) http://identifiers.org/clinvar/1780 ^@ NM_000102.3(CYP17A1):c.316T>C (p.Ser106Pro) http://identifiers.org/clinvar/1825 ^@ LPAR6, 2-BP DEL, 373AA http://identifiers.org/clinvar/1870 ^@ PDCD10, DEL http://identifiers.org/clinvar/1915 ^@ NM_001017922.1(ERMAP):c.307_308delGA (p.Asp103Cysfs) http://identifiers.org/clinvar/2496 ^@ EXT1, 1-BP INS, 2077C http://identifiers.org/clinvar/2542 ^@ NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) http://identifiers.org/clinvar/2634 ^@ NM_153240.4(NPHP3):c.1381G>T (p.Glu461Ter) http://identifiers.org/clinvar/2680 ^@ CCM2, 1-BP DEL, 23G http://identifiers.org/clinvar/2727 ^@ NM_004183.3(BEST1):c.279G>C (p.Trp93Cys) http://identifiers.org/clinvar/2772 ^@ NM_024312.4(GNPTAB):c.3335+1G>A http://identifiers.org/clinvar/2817 ^@ NM_199452.3(ZNF365):c.184G>A (p.Ala62Thr) http://identifiers.org/clinvar/2862 ^@ NM_173076.2(ABCA12):c.6610C>T (p.Arg2204Ter) http://identifiers.org/clinvar/2908 ^@ KANK1, DEL, PATERNAL ALLELE http://identifiers.org/clinvar/2953 ^@ NM_000333.3(ATXN7):c.88_90CAG(7_17) (p.Gln37_Gln39del) http://identifiers.org/clinvar/3047 ^@ NM_000051.3(ATM):c.496+5G>A http://identifiers.org/clinvar/3093 ^@ NM_000487.5(ARSA):c.905G>T (p.Cys302Phe) http://identifiers.org/clinvar/3145 ^@ NM_000218.2(KCNQ1):c.806G>A (p.Gly269Asp) http://identifiers.org/clinvar/3193 ^@ NM_017653.3(DYM):c.1624T>C (p.Cys542Arg) http://identifiers.org/clinvar/3287 ^@ NM_000268.3(NF2):c.1613A>C (p.Gln538Pro) http://identifiers.org/clinvar/10990 ^@ NM_000531.5(OTC):c.646C>G (p.Gln216Glu) http://identifiers.org/clinvar/11034 ^@ NM_001399.4(EDA):c.187G>A (p.Glu63Lys) http://identifiers.org/clinvar/11124 ^@ NM_000377.2(WAS):c.1097delG (p.Gly366Alafs) http://identifiers.org/clinvar/11170 ^@ CD40LG, ALU INS, EX1 http://identifiers.org/clinvar/11215 ^@ DMD, 1-BP DEL, 10662T http://identifiers.org/clinvar/11260 ^@ NM_004006.2(DMD):c.6292C>T (p.Arg2098Ter) http://identifiers.org/clinvar/11305 ^@ NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe) http://identifiers.org/clinvar/11351 ^@ NM_000061.2(BTK):c.97A>C (p.Thr33Pro) http://identifiers.org/clinvar/11397 ^@ BTK, 6.1-KB DEL http://identifiers.org/clinvar/11508 ^@ NM_001011658.3(TRAPPC2):c.191_192delTG (p.Val64Glyfs) http://identifiers.org/clinvar/11559 ^@ NM_001159702.2(FHL1):c.838G>A (p.Val280Met) http://identifiers.org/clinvar/11609 ^@ NM_178151.2(DCX):c.587G>A (p.Arg196His) http://identifiers.org/clinvar/11659 ^@ NM_004586.2(RPS6KA3):c.1147C>T (p.Arg383Trp) http://identifiers.org/clinvar/11710 ^@ NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) http://identifiers.org/clinvar/11761 ^@ NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu) http://identifiers.org/clinvar/11812 ^@ MECP2, 1-BP DEL, 806G http://identifiers.org/clinvar/11862 ^@ NM_000260.3(MYO7A):c.3260T>C (p.Leu1087Pro) http://identifiers.org/clinvar/11912 ^@ IDUA, 1-BP DEL, 1702G http://identifiers.org/clinvar/11962 ^@ NM_014425.4(INVS):c.2695C>T (p.Arg899Ter) http://identifiers.org/clinvar/12014 ^@ NM_000532.4(PCCB):c.1173dupT (p.Val392Cysfs) http://identifiers.org/clinvar/12064 ^@ Factor X Ketchikan http://identifiers.org/clinvar/12114 ^@ C6, IVS15DS, T-C, +2 http://identifiers.org/clinvar/12164 ^@ NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) http://identifiers.org/clinvar/12219 ^@ NM_000490.4(AVP):c.20C>T (p.Pro7Leu) http://identifiers.org/clinvar/12270 ^@ NM_000463.2(UGT1A1):c.992A>G (p.Gln331Arg) http://identifiers.org/clinvar/12322 ^@ NC_000008.11:g.11474238G>A http://identifiers.org/clinvar/12373 ^@ TP53, 1-BP DEL, CODON 257 http://identifiers.org/clinvar/12424 ^@ NM_000363.4(TNNI3):c.575G>A (p.Arg192His) http://identifiers.org/clinvar/12475 ^@ NM_003239.4(TGFB3):c.*495C>T http://identifiers.org/clinvar/12525 ^@ NM_004612.3(TGFBR1):c.1460G>A (p.Arg487Gln) http://identifiers.org/clinvar/12575 ^@ NM_002467.4(MYC):c.302A>C (p.Asn101Thr) http://identifiers.org/clinvar/12626 ^@ NM_007313.2(ABL1):c.763G>A (p.Glu255Lys) http://identifiers.org/clinvar/12676 ^@ NM_000362.4(TIMP3):c.610A>T (p.Ser204Cys) http://identifiers.org/clinvar/12728 ^@ NM_001174136.1(TDGF1):c.326C>T (p.Pro109Leu) http://identifiers.org/clinvar/12778 ^@ NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) http://identifiers.org/clinvar/12828 ^@ NM_003106.3(SOX2):c.551delC (p.Pro184Argfs) http://identifiers.org/clinvar/12879 ^@ NM_001040142.1(SCN2A):c.668G>A (p.Arg223Gln) http://identifiers.org/clinvar/13183 ^@ NM_000322.4(PRPH2):c.424C>T (p.Arg142Trp) http://identifiers.org/clinvar/13234 ^@ NM_000119.2(EPB42):c.265delG (p.Val89Trpfs) http://identifiers.org/clinvar/13285 ^@ NM_000141.4(FGFR2):c.804_809delAGTGGT (p.Val269_Val270del) http://identifiers.org/clinvar/13389 ^@ NM_000207.2(INS):c.143T>G (p.Phe48Cys) http://identifiers.org/clinvar/36666 ^@ NM_174936.3(PCSK9):c.-64C>T http://identifiers.org/clinvar/36718 ^@ NM_000536.3(RAG2):c.1309G>A (p.Glu437Lys) http://identifiers.org/clinvar/36771 ^@ NM_000337.5(SGCD):c.105G>C (p.Leu35=) http://identifiers.org/clinvar/36821 ^@ NM_000545.6(HNF1A):c.441C>A (p.His147Gln) http://identifiers.org/clinvar/36871 ^@ NM_024334.2(TMEM43):c.163-14C>T http://identifiers.org/clinvar/36923 ^@ NM_018993.3(RIN2):c.1914_1915delGC (p.Glu638Aspfs) http://identifiers.org/clinvar/37034 ^@ NM_005022.3(PFN1):c.211T>G (p.Cys71Gly) http://identifiers.org/clinvar/37098 ^@ FAN1, 1-BP DEL, 2616A http://identifiers.org/clinvar/37220 ^@ C4ORF26, 6-BP DEL/16-BP INS, NT51 http://identifiers.org/clinvar/37312 ^@ NM_005340.6(HINT1):c.110G>C (p.Arg37Pro) http://identifiers.org/clinvar/37396 ^@ NM_007294.3(BRCA1):c.1175_1217del43 (p.Leu393Profs) http://identifiers.org/clinvar/37448 ^@ NM_007294.3(BRCA1):c.2125_2126ins3 http://identifiers.org/clinvar/37502 ^@ NM_007294.3(BRCA1):c.3037_3038delGA (p.Glu1013Asnfs) http://identifiers.org/clinvar/37559 ^@ NM_007294.3(BRCA1):c.4015G>T (p.Glu1339Ter) http://identifiers.org/clinvar/37610 ^@ NM_007294.3(BRCA1):c.4775_4779delACATAinsC (p.Asn1592Thrfs) http://identifiers.org/clinvar/38227 ^@ NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) http://identifiers.org/clinvar/38283 ^@ NM_005359.5(SMAD4):c.1139G>A (p.Arg380Lys) http://identifiers.org/clinvar/38341 ^@ NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) http://identifiers.org/clinvar/38400 ^@ NM_014252.3(SLC25A15):c.569G>A (p.Gly190Asp) http://identifiers.org/clinvar/38482 ^@ NM_000060.4(BTD):c.212T>C (p.Leu71Pro) http://identifiers.org/clinvar/38626 ^@ NM_020975.4(RET):c.1901_1902delGCinsTG (p.Cys634Leu) http://identifiers.org/clinvar/38779 ^@ ins10-15kb(intron46);del25kb http://identifiers.org/clinvar/38903 ^@ NM_000660.6(TGFB1):c.788C>T (p.Thr263Ile) http://identifiers.org/clinvar/38953 ^@ NM_001363.4(DKC1):c.911G>A (p.Ser304Asn) http://identifiers.org/clinvar/39005 ^@ NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500) http://identifiers.org/clinvar/39055 ^@ NM_024312.4(GNPTAB):c.2550_2554delGAAAA (p.Lys850Asnfs) http://identifiers.org/clinvar/39109 ^@ NM_198253.2(TERT):c.2147C>T (p.Ala716Val) http://identifiers.org/clinvar/39162 ^@ NM_198578.3(LRRK2):c.3287C>G (p.Ser1096Cys) http://identifiers.org/clinvar/39212 ^@ NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val) http://identifiers.org/clinvar/39263 ^@ NM_207352.3(CYP4V2):c.335T>G (p.Leu112Ter) http://identifiers.org/clinvar/39424 ^@ NM_004069.4(AP2S1):c.43C>T (p.Arg15Cys) http://identifiers.org/clinvar/39476 ^@ NM_001567.3(INPPL1):c.2415+1G>A http://identifiers.org/clinvar/39527 ^@ NM_000359.2(TGM1):c.826T>A (p.Tyr276Asn) http://identifiers.org/clinvar/39577 ^@ NM_001253816.1(SLC52A2):c.1016T>C (p.Leu339Pro) http://identifiers.org/clinvar/39629 ^@ NM_020920.3(CHD8):c.2875C>T (p.Gln959Ter) http://identifiers.org/clinvar/39679 ^@ NM_015214.2(DDHD2):c.1978G>C (p.Asp660His) http://identifiers.org/clinvar/39731 ^@ CABP2, IVS6DS, G-T, +1 http://identifiers.org/clinvar/39782 ^@ NM_017410.2(HOXC13):c.-24497_736+2389del http://identifiers.org/clinvar/39833 ^@ NM_002496.3(NDUFS8):c.229C>T (p.Arg77Trp) http://identifiers.org/clinvar/39976 ^@ PSMA7, ALA112PHE http://identifiers.org/clinvar/40079 ^@ NM_001142617.1(STRA6):c.1964G>A (p.Arg655His) http://identifiers.org/clinvar/40231 ^@ NM_024531.4(SLC52A2):c.155C>T (p.Ser52Phe) http://identifiers.org/clinvar/40368 ^@ NM_004333.4(BRAF):c.1411G>A (p.Val471Ile) http://identifiers.org/clinvar/40436 ^@ NM_005343.3(HRAS):c.179G>A (p.Gly60Asp) http://identifiers.org/clinvar/41157 ^@ NM_003611.2(OFD1):c.-296G>T http://identifiers.org/clinvar/51168 ^@ NM_000059.3(BRCA2):c.1654delT (p.Ser552Profs) http://identifiers.org/clinvar/51219 ^@ NM_000059.3(BRCA2):c.1881delA (p.Pro628Hisfs) http://identifiers.org/clinvar/52237 ^@ NM_000059.3(BRCA2):c.7007+1G>C http://identifiers.org/clinvar/52692 ^@ NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) http://identifiers.org/clinvar/52742 ^@ NM_000059.3(BRCA2):c.9076C>G (p.Gln3026Glu) http://identifiers.org/clinvar/52794 ^@ NM_000059.3(BRCA2):c.9257-75G>C http://identifiers.org/clinvar/52845 ^@ NM_000059.3(BRCA2):c.9466delC (p.Gln3156Lysfs) http://identifiers.org/clinvar/52895 ^@ NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) http://identifiers.org/clinvar/52945 ^@ NM_000218.2(KCNQ1):c.1058T>C (p.Leu353Pro) http://identifiers.org/clinvar/52995 ^@ NM_000218.2(KCNQ1):c.1576A>G (p.Lys526Glu) http://identifiers.org/clinvar/53045 ^@ NM_000218.2(KCNQ1):c.451_452delCT (p.Leu151Glyfs) http://identifiers.org/clinvar/53095 ^@ NM_000218.2(KCNQ1):c.752T>C (p.Leu251Pro) http://identifiers.org/clinvar/53146 ^@ NM_000218.2(KCNQ1):c.954G>C (p.Lys318Asn) http://identifiers.org/clinvar/53199 ^@ NM_000492.3(CFTR):c.1135G>A (p.Glu379Lys) http://identifiers.org/clinvar/53251 ^@ NM_000492.3(CFTR):c.1418delG (p.Gly473Glufs) http://identifiers.org/clinvar/53302 ^@ NM_000492.3(CFTR):c.164+12T>C http://identifiers.org/clinvar/53352 ^@ NM_000492.3(CFTR):c.1705T>G (p.Tyr569Asp) http://identifiers.org/clinvar/53402 ^@ NM_000492.3(CFTR):c.1840G>T (p.Asp614Tyr) http://identifiers.org/clinvar/53454 ^@ NM_000492.3(CFTR):c.2210C>T (p.Ser737Phe) http://identifiers.org/clinvar/53507 ^@ NM_000492.3(CFTR):c.2522C>G (p.Pro841Arg) http://identifiers.org/clinvar/53557 ^@ NM_000492.3(CFTR):c.2749T>G (p.Tyr917Asp) http://identifiers.org/clinvar/53607 ^@ NM_000492.3(CFTR):c.2953G>C (p.Asp985His) http://identifiers.org/clinvar/53659 ^@ NM_000492.3(CFTR):c.3139G>C (p.Gly1047Arg) http://identifiers.org/clinvar/53710 ^@ NM_000492.3(CFTR):c.3294delG (p.Trp1098Cysfs) http://identifiers.org/clinvar/53761 ^@ NM_000492.3(CFTR):c.3497T>G (p.Phe1166Cys) http://identifiers.org/clinvar/53813 ^@ NM_000492.3(CFTR):c.3780_3782delACT (p.Leu1261del) http://identifiers.org/clinvar/53865 ^@ NM_000492.3(CFTR):c.3971T>C (p.Leu1324Pro) http://identifiers.org/clinvar/53916 ^@ NM_000492.3(CFTR):c.419C>T (p.Pro140Leu) http://identifiers.org/clinvar/53966 ^@ NM_000492.3(CFTR):c.482A>C (p.Tyr161Ser) http://identifiers.org/clinvar/54016 ^@ NM_000492.3(CFTR):c.581G>T (p.Gly194Val) http://identifiers.org/clinvar/54066 ^@ NM_000492.3(CFTR):c.836_838delAAG (p.Glu279del) http://identifiers.org/clinvar/54709 ^@ NM_007294.3(BRCA1):c.2884G>A (p.Glu962Lys) http://identifiers.org/clinvar/54759 ^@ NM_007294.3(BRCA1):c.3040A>G (p.Met1014Val) http://identifiers.org/clinvar/54809 ^@ NM_007294.3(BRCA1):c.3257T>C (p.Leu1086Ser) http://identifiers.org/clinvar/54859 ^@ NM_007294.3(BRCA1):c.3365_3366delCA (p.Thr1122Argfs) http://identifiers.org/clinvar/54909 ^@ NM_007294.3(BRCA1):c.3531delT (p.Phe1177Leufs) http://identifiers.org/clinvar/54961 ^@ NM_007294.3(BRCA1):c.3676_3679delTTCC (p.Phe1226Asnfs) http://identifiers.org/clinvar/55012 ^@ NM_007294.3(BRCA1):c.380G>A (p.Ser127Asn) http://identifiers.org/clinvar/55062 ^@ NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter) http://identifiers.org/clinvar/55113 ^@ NM_007294.3(BRCA1):c.4158_4162delCTCTC (p.Ser1387Glufs) http://identifiers.org/clinvar/55164 ^@ NM_007294.3(BRCA1):c.4300dupA (p.Ser1434Lysfs) http://identifiers.org/clinvar/55215 ^@ NM_007294.3(BRCA1):c.4487C>A (p.Ser1496Ter) http://identifiers.org/clinvar/55265 ^@ NM_007294.3(BRCA1):c.4702A>G (p.Ile1568Val) http://identifiers.org/clinvar/55316 ^@ NM_007294.3(BRCA1):c.4921G>A (p.Ala1641Thr) http://identifiers.org/clinvar/55366 ^@ NM_007294.3(BRCA1):c.5058T>A (p.His1686Gln) http://identifiers.org/clinvar/55416 ^@ NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn) http://identifiers.org/clinvar/55466 ^@ NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) http://identifiers.org/clinvar/55519 ^@ NM_007294.3(BRCA1):c.5312C>T (p.Pro1771Leu) http://identifiers.org/clinvar/55569 ^@ NM_007294.3(BRCA1):c.5414A>C (p.His1805Pro) http://identifiers.org/clinvar/55619 ^@ NM_007294.3(BRCA1):c.5535C>A (p.Tyr1845Ter) http://identifiers.org/clinvar/55671 ^@ NM_007294.3(BRCA1):c.693G>T (p.Thr231=) http://identifiers.org/clinvar/55722 ^@ NM_007294.3(BRCA1):c.814_824dupGAGCCATGTGG (p.Thr276Serfs) http://identifiers.org/clinvar/55773 ^@ NM_007294.3(BRCA1):c.985_986delAA (p.Asn329Terfs) http://identifiers.org/clinvar/55851 ^@ NM_033500.2(HK1):c.2003C>G (p.Thr668Ser) http://identifiers.org/clinvar/55924 ^@ NM_006494.3(ERF):c.891_892delAG (p.Gly299Argfs) http://identifiers.org/clinvar/55981 ^@ NM_000111.2(SLC26A3):c.1563G>C (p.Lys521Asn) http://identifiers.org/clinvar/56034 ^@ NM_000145.3(FSHR):c.671A>T (p.Asp224Val) http://identifiers.org/clinvar/56085 ^@ NM_000170.2(GLDC):c.2639A>T (p.Asp880Val) http://identifiers.org/clinvar/56139 ^@ NM_000274.3(OAT):c.952delG (p.Glu318Serfs) http://identifiers.org/clinvar/56599 ^@ NM_017739.3(POMGNT1):c.447delT (p.Phe149Leufs) http://identifiers.org/clinvar/56654 ^@ NM_017890.4(VPS13B):c.2727_2730dupGCTC (p.Asn911Alafs) http://identifiers.org/clinvar/125653 ^@ NM_007294.3(BRCA1):c.3778_3779insA (p.Leu1260Tyrfs) http://identifiers.org/clinvar/125716 ^@ U14680.1:n.4604-63A>G http://identifiers.org/clinvar/125783 ^@ NM_007294.3(BRCA1):c.5153-13A>G http://identifiers.org/clinvar/125855 ^@ NM_007294.3(BRCA1):c.5468-18T>A http://identifiers.org/clinvar/125915 ^@ NM_007294.3(BRCA1):c.833_834insA (p.His279Serfs) http://identifiers.org/clinvar/125980 ^@ NM_000059.3(BRCA2):c.37_38insT (p.Glu13Valfs) http://identifiers.org/clinvar/126041 ^@ NM_000059.3(BRCA2):c.4417A>G (p.Asn1473Asp) http://identifiers.org/clinvar/126117 ^@ NM_000059.3(BRCA2):c.476T>A (p.Val159Glu) http://identifiers.org/clinvar/126175 ^@ U43746.1:n.8560_8860del301 http://identifiers.org/clinvar/126239 ^@ NM_001080522.2(CC2D2A):c.3288+41A>C http://identifiers.org/clinvar/126289 ^@ NM_024809.4(TCTN2):c.654C>T (p.Leu218=) http://identifiers.org/clinvar/126340 ^@ NM_020732.3(ARID1B):c.954_956delAGG (p.Gly319del) http://identifiers.org/clinvar/126396 ^@ NM_006397.2(RNASEH2A):c.207dupG (p.Thr70Aspfs) http://identifiers.org/clinvar/126464 ^@ NM_021625.4(TRPV4):c.1412_1414delTCT (p.Phe471del) http://identifiers.org/clinvar/126527 ^@ NM_173086.4(KRT6C):c.1414G>A (p.Glu472Lys) http://identifiers.org/clinvar/126601 ^@ NM_024675.3(PALB2):c.1419A>C (p.Pro473=) http://identifiers.org/clinvar/126653 ^@ NM_024675.3(PALB2):c.2442G>A (p.Glu814=) http://identifiers.org/clinvar/126703 ^@ NM_024675.3(PALB2):c.2996+58T>C http://identifiers.org/clinvar/126753 ^@ NM_024675.3(PALB2):c.49-54C>T http://identifiers.org/clinvar/126804 ^@ NM_000321.2(RB1):c.2490-1G>A http://identifiers.org/clinvar/126857 ^@ NM_004996.3(ABCC1):c.1988+848A>G http://identifiers.org/clinvar/126914 ^@ NM_007194.3(CHEK2):c.444+1G>T http://identifiers.org/clinvar/126964 ^@ NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) http://identifiers.org/clinvar/127014 ^@ NM_002485.4(NBN):c.628G>T (p.Val210Phe) http://identifiers.org/clinvar/127064 ^@ NM_001983.3(ERCC1):c.106-73A>G http://identifiers.org/clinvar/127128 ^@ NM_000059.3(BRCA2):c.5555T>A (p.Val1852Asp) http://identifiers.org/clinvar/160798 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 http://identifiers.org/clinvar/160849 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/160901 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 http://identifiers.org/clinvar/160953 ^@ GRCh38/hg38 5p15.33(chr5:629340-820360)x1 http://identifiers.org/clinvar/161004 ^@ GRCh38/hg38 11q25(chr11:134511738-134841778)x3 http://identifiers.org/clinvar/161054 ^@ GRCh38/hg38 Xq28(chrX:156001591-156022206)x0 http://identifiers.org/clinvar/161104 ^@ NM_030777.3(SLC2A10):c.313C>T (p.Arg105Cys) http://identifiers.org/clinvar/161154 ^@ NM_152296.4(ATP1A3):c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr) http://identifiers.org/clinvar/161336 ^@ NM_000312.3(PROC):c.1234G>A (p.Gly412Ser) http://identifiers.org/clinvar/161236 ^@ NM_000138.4(FBN1):c.8494A>G (p.Ser2832Gly) http://identifiers.org/clinvar/161286 ^@ NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) http://identifiers.org/clinvar/165961 ^@ NM_133378.4(TTN):c.48699A>G (p.Gln16233=) http://identifiers.org/clinvar/165869 ^@ NM_001256850.1(TTN):c.63526C>T (p.Arg21176Ter) http://identifiers.org/clinvar/165714 ^@ NM_133378.4(TTN):c.87364G>A (p.Val29122Met) http://identifiers.org/clinvar/166025 ^@ NM_001256850.1(TTN):c.42969T>G (p.Asp14323Glu) http://identifiers.org/clinvar/166165 ^@ NM_133378.4(TTN):c.18921T>C (p.Asp6307=) http://identifiers.org/clinvar/166267 ^@ NM_133379.4(TTN):c.12946G>A (p.Glu4316Lys) http://identifiers.org/clinvar/178665 ^@ NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala) http://identifiers.org/clinvar/165456 ^@ NM_024334.2(TMEM43):c.829A>T (p.Thr277Ser) http://identifiers.org/clinvar/165156 ^@ NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) http://identifiers.org/clinvar/198882 ^@ NM_017651.4(AHI1):c.1033T>A (p.Leu345Met) http://identifiers.org/clinvar/198935 ^@ NM_207346.2(TSEN54):c.637_639delAAG (p.Lys213del) http://identifiers.org/clinvar/198986 ^@ NM_000048.3(ASL):c.640G>C (p.Glu214Gln) http://identifiers.org/clinvar/199037 ^@ NM_000747.2(CHRNB1):c.1045-6C>G http://identifiers.org/clinvar/199090 ^@ NM_004369.3(COL6A3):c.3879T>G (p.Asp1293Glu) http://identifiers.org/clinvar/199142 ^@ NM_017780.3(CHD7):c.2680A>G (p.Thr894Ala) http://identifiers.org/clinvar/199193 ^@ NM_178452.5(DNAAF1):c.1532C>T (p.Pro511Leu) http://identifiers.org/clinvar/199248 ^@ NM_000540.2(RYR1):c.14203C>T (p.Arg4735Trp) http://identifiers.org/clinvar/200942 ^@ NM_170707.3(LMNA):c.871G>A (p.Glu291Lys) http://identifiers.org/clinvar/201191 ^@ NM_001035.2(RYR2):c.301A>G (p.Met101Val) http://identifiers.org/clinvar/199751 ^@ NM_000090.3(COL3A1):c.101A>G (p.His34Arg) http://identifiers.org/clinvar/199697 ^@ NM_000090.3(COL3A1):c.2022+5T>C http://identifiers.org/clinvar/201527 ^@ NM_198056.2(SCN5A):c.5072T>C (p.Met1691Thr) http://identifiers.org/clinvar/201584 ^@ NM_198056.2(SCN5A):c.3439A>G (p.Thr1147Ala) http://identifiers.org/clinvar/199917 ^@ NM_004415.3(DSP):c.935_937delTCT (p.Phe312del) http://identifiers.org/clinvar/199858 ^@ NM_004415.3(DSP):c.1067C>A (p.Thr356Lys) http://identifiers.org/clinvar/200480 ^@ NM_000238.3(KCNH2):c.2690A>T (p.Lys897Met) http://identifiers.org/clinvar/200730 ^@ NM_000238.3(KCNH2):c.1802G>A (p.Gly601Asp) http://identifiers.org/clinvar/200312 ^@ NM_000238.3(KCNH2):c.959C>G (p.Ser320Trp) http://identifiers.org/clinvar/200620 ^@ NM_000238.3(KCNH2):c.885delG (p.Leu296Cysfs) http://identifiers.org/clinvar/200881 ^@ NM_000218.2(KCNQ1):c.499_501delTTC (p.Phe167del) http://identifiers.org/clinvar/200827 ^@ NM_000218.2(KCNQ1):c.953A>C (p.Lys318Thr) http://identifiers.org/clinvar/201018 ^@ NM_130799.2(MEN1):c.164dupC (p.Thr56Tyrfs) http://identifiers.org/clinvar/200199 ^@ NM_000138.4(FBN1):c.7832G>A (p.Cys2611Tyr) http://identifiers.org/clinvar/200085 ^@ NM_000138.4(FBN1):c.6449G>T (p.Arg2150Leu) http://identifiers.org/clinvar/199975 ^@ NM_000138.4(FBN1):c.1693C>T (p.Arg565Ter) http://identifiers.org/clinvar/200145 ^@ NM_000138.4(FBN1):c.700_702delGGCinsTGT (p.Gly234Cys) http://identifiers.org/clinvar/200030 ^@ NM_000138.4(FBN1):c.164+1G>A http://identifiers.org/clinvar/201070 ^@ NM_002474.2(MYH11):c.3973C>G (p.Gln1325Glu) http://identifiers.org/clinvar/199806 ^@ NM_001943.4(DSG2):c.1130T>A (p.Val377Asp) http://identifiers.org/clinvar/201123 ^@ NM_000268.3(NF2):c.810+1G>A http://identifiers.org/clinvar/203081 ^@ NM_001256850.1(TTN):c.99551C>A (p.Ala33184Asp) http://identifiers.org/clinvar/203031 ^@ NM_001256850.1(TTN):c.92623A>T (p.Met30875Leu) http://identifiers.org/clinvar/202981 ^@ NM_001256850.1(TTN):c.86476C>T (p.Arg28826Cys) http://identifiers.org/clinvar/202931 ^@ NM_001256850.1(TTN):c.80972G>C (p.Gly26991Ala) http://identifiers.org/clinvar/202881 ^@ NM_001256850.1(TTN):c.72695C>G (p.Ala24232Gly) http://identifiers.org/clinvar/202831 ^@ NM_001256850.1(TTN):c.66229G>A (p.Val22077Ile) http://identifiers.org/clinvar/231559 ^@ NM_005732.3(RAD50):c.1141G>A (p.Asp381Asn) http://identifiers.org/clinvar/233349 ^@ NM_005732.3(RAD50):c.2764T>G (p.Phe922Val) http://identifiers.org/clinvar/232259 ^@ NM_005732.3(RAD50):c.3787C>T (p.Gln1263Ter) http://identifiers.org/clinvar/232459 ^@ NM_000535.6(PMS2):c.2446-1G>T http://identifiers.org/clinvar/233902 ^@ NM_002485.4(NBN):c.1047_1049delTGA (p.Asp349del) http://identifiers.org/clinvar/233399 ^@ NM_002485.4(NBN):c.911C>G (p.Pro304Arg) http://identifiers.org/clinvar/231309 ^@ NM_004329.2(BMPR1A):c.761G>T (p.Arg254Leu) http://identifiers.org/clinvar/232309 ^@ NM_004329.2(BMPR1A):c.1017C>G (p.Ala339=) http://identifiers.org/clinvar/231859 ^@ NM_000051.3(ATM):c.184A>G (p.Arg62Gly) http://identifiers.org/clinvar/229670 ^@ NM_000051.3(ATM):c.395C>T (p.Ser132Phe) http://identifiers.org/clinvar/232109 ^@ NM_000051.3(ATM):c.7768C>G (p.Gln2590Glu) http://identifiers.org/clinvar/231709 ^@ NM_000051.3(ATM):c.7912T>G (p.Trp2638Gly) http://identifiers.org/clinvar/232209 ^@ NM_000051.3(ATM):c.8194T>C (p.Phe2732Leu) http://identifiers.org/clinvar/233699 ^@ NM_005591.3(MRE11):c.1853T>G (p.Met618Arg) http://identifiers.org/clinvar/231759 ^@ NM_005591.3(MRE11):c.1098+2T>C http://identifiers.org/clinvar/234102 ^@ NM_005591.3(MRE11):c.564G>C (p.Arg188Ser) http://identifiers.org/clinvar/233299 ^@ NM_000075.3(CDK4):c.133G>A (p.Gly45Ser) http://identifiers.org/clinvar/233499 ^@ NM_000059.3(BRCA2):c.4089C>A (p.Asn1363Lys) http://identifiers.org/clinvar/232359 ^@ NM_000059.3(BRCA2):c.4245delG (p.Glu1415Aspfs) http://identifiers.org/clinvar/231809 ^@ NM_000059.3(BRCA2):c.4276A>G (p.Thr1426Ala) http://identifiers.org/clinvar/234152 ^@ NM_000059.3(BRCA2):c.4649A>G (p.Glu1550Gly) http://identifiers.org/clinvar/232059 ^@ NM_000059.3(BRCA2):c.8964T>C (p.Ser2988=) http://identifiers.org/clinvar/231909 ^@ NM_000059.3(BRCA2):c.9398C>T (p.Ser3133Leu) http://identifiers.org/clinvar/231259 ^@ NM_000548.4(TSC2):c.5329C>G (p.Pro1777Ala) http://identifiers.org/clinvar/231409 ^@ NM_004360.4(CDH1):c.1403C>T (p.Thr468Ile) http://identifiers.org/clinvar/232159 ^@ NM_001042492.2(NF1):c.2629A>G (p.Met877Val) http://identifiers.org/clinvar/234052 ^@ NM_001042492.2(NF1):c.6060A>G (p.Thr2020=) http://identifiers.org/clinvar/231459 ^@ NM_001042492.2(NF1):c.6203C>T (p.Thr2068Ile) http://identifiers.org/clinvar/229820 ^@ NM_002878.3(RAD51D):c.329G>C (p.Gly110Ala) http://identifiers.org/clinvar/231659 ^@ NM_058216.2(RAD51C):c.75G>A (p.Val25=) http://identifiers.org/clinvar/233649 ^@ NM_058216.2(RAD51C):c.931A>G (p.Ile311Val) http://identifiers.org/clinvar/231959 ^@ NM_032043.2(BRIP1):c.2751T>C (p.Ser917=) http://identifiers.org/clinvar/233449 ^@ NM_032043.2(BRIP1):c.2238C>T (p.Ile746=) http://identifiers.org/clinvar/233801 ^@ NM_032043.2(BRIP1):c.1934A>G (p.Gln645Arg) http://identifiers.org/clinvar/233852 ^@ NM_000546.5(TP53):c.91G>T (p.Val31Phe) http://identifiers.org/clinvar/229720 ^@ NM_000455.4(STK11):c.1024G>C (p.Glu342Gln) http://identifiers.org/clinvar/230220 ^@ NM_007194.3(CHEK2):c.1160C>G (p.Thr387Ser) http://identifiers.org/clinvar/229870 ^@ NM_007194.3(CHEK2):c.1037G>T (p.Arg346Leu) http://identifiers.org/clinvar/230270 ^@ NM_007194.3(CHEK2):c.544C>T (p.Pro182Ser) http://identifiers.org/clinvar/234002 ^@ NM_007194.3(CHEK2):c.335A>G (p.Asn112Ser) http://identifiers.org/clinvar/235027 ^@ NM_000257.3(MYH7):c.1876G>A (p.Gly626Arg) http://identifiers.org/clinvar/234976 ^@ NM_005159.4(ACTC1):c.514G>A (p.Ala172Thr) http://identifiers.org/clinvar/235077 ^@ NM_005270.4(GLI2):c.2064delC (p.Ser690Alafs) http://identifiers.org/clinvar/235212 ^@ NM_001003841.2(SLC6A19):c.941C>T (p.Ser314Leu) http://identifiers.org/clinvar/236206 ^@ NM_000038.5(APC):c.4717delG (p.Glu1573Lysfs) http://identifiers.org/clinvar/236286 ^@ NM_198578.3(LRRK2):c.856C>G (p.Leu286Val) http://identifiers.org/clinvar/236337 ^@ NC_000016.8:g.76826414_77129251del302838 http://identifiers.org/clinvar/236387 ^@ NC_000016.9:g.78939658_79076810del137153 http://identifiers.org/clinvar/236538 ^@ NM_206933.2(USH2A):c.3327C>A (p.Tyr1109Ter) http://identifiers.org/clinvar/236488 ^@ NM_001195794.1(CLRN1):c.98G>A (p.Trp33Ter) http://identifiers.org/clinvar/236438 ^@ NM_006204.3(PDE6C):c.1892A>G (p.Glu631Gly) http://identifiers.org/clinvar/237394 ^@ NM_000251.2(MSH2):c.2801C>A (p.Thr934Lys) http://identifiers.org/clinvar/237143 ^@ NM_000179.2(MSH6):c.1740G>A (p.Ser580=) http://identifiers.org/clinvar/237193 ^@ NM_000179.2(MSH6):c.3477C>G (p.Tyr1159Ter) http://identifiers.org/clinvar/241249 ^@ NM_018062.3(FANCL):c.156-8A>C http://identifiers.org/clinvar/237344 ^@ NM_000249.3(MLH1):c.736A>T (p.Ile246Leu) http://identifiers.org/clinvar/242188 ^@ NM_183075.2(CYP2U1):c.490+6C>T http://identifiers.org/clinvar/237244 ^@ NM_000222.2(KIT):c.1541-8C>T http://identifiers.org/clinvar/236588 ^@ NM_000038.5(APC):c.3301C>T (p.Pro1101Ser) http://identifiers.org/clinvar/236638 ^@ NM_000038.5(APC):c.6931A>G (p.Arg2311Gly) http://identifiers.org/clinvar/242238 ^@ NM_198253.2(TERT):c.3330G>A (p.Thr1110=) http://identifiers.org/clinvar/237294 ^@ NM_000238.3(KCNH2):c.1644C>T (p.Ala548=) http://identifiers.org/clinvar/259898 ^@ NM_006005.3(WFS1):c.2364C>T (p.Asp788=) http://identifiers.org/clinvar/260048 ^@ NM_006846.3(SPINK5):c.209+15C>T http://identifiers.org/clinvar/263037 ^@ NM_182925.4(FLT4):c.234G>A (p.Thr78=) http://identifiers.org/clinvar/260448 ^@ NM_014845.5(FIG4):c.2097-10C>G http://identifiers.org/clinvar/257048 ^@ NM_001010892.2(RSPH4A):c.1563T>C (p.Asn521=) http://identifiers.org/clinvar/255409 ^@ NM_000165.4(GJA1):c.*3dupA http://identifiers.org/clinvar/260848 ^@ NM_017651.4(AHI1):c.2492+15G>A http://identifiers.org/clinvar/262387 ^@ NM_138694.3(PKHD1):c.1234-39C>G http://identifiers.org/clinvar/260498 ^@ NM_014989.5(RIMS1):c.4548C>T (p.Phe1516=) http://identifiers.org/clinvar/260348 ^@ NM_014141.5(CNTNAP2):c.3010+12C>T http://identifiers.org/clinvar/260698 ^@ NM_016203.3(PRKAG2):c.945A>G (p.Val315=) http://identifiers.org/clinvar/261298 ^@ NM_020476.2(ANK1):c.2196+6G>A http://identifiers.org/clinvar/260898 ^@ NM_017780.3(CHD7):c.2697+30G>A http://identifiers.org/clinvar/256848 ^@ NM_001001557.3(GDF6):c.406+28C>A http://identifiers.org/clinvar/256648 ^@ NM_000550.2(TYRP1):c.913+9C>T http://identifiers.org/clinvar/260148 ^@ NM_007171.3(POMT1):c.427+12G>A http://identifiers.org/clinvar/262437 ^@ NM_139025.4(ADAMTS13):c.2699C>T (p.Ala900Val) http://identifiers.org/clinvar/255059 ^@ NM_000093.4(COL5A1):c.1936-35C>A http://identifiers.org/clinvar/262537 ^@ NM_144966.5(FREM1):c.3634G>T (p.Ala1212Ser) http://identifiers.org/clinvar/260198 ^@ NM_012144.3(DNAI1):c.1215C>T (p.Asp405=) http://identifiers.org/clinvar/255459 ^@ NM_000170.2(GLDC):c.501G>A (p.Glu167=) http://identifiers.org/clinvar/255509 ^@ NM_000197.1(HSD17B3):c.453+37T>C http://identifiers.org/clinvar/262837 ^@ NM_173551.4(ANKS6):c.1112+18G>A http://identifiers.org/clinvar/260248 ^@ NM_012330.3(KAT6B):c.5749A>G (p.Ile1917Val) http://identifiers.org/clinvar/260798 ^@ NM_016952.4(CDON):c.3559C>T (p.Arg1187Cys) http://identifiers.org/clinvar/262737 ^@ NM_153676.3(USH1C):c.522-45delC http://identifiers.org/clinvar/262987 ^@ NM_181507.1(HPS5):c.478-18T>G http://identifiers.org/clinvar/263287 ^@ NM_207122.1(EXT2):c.1588G>A (p.Glu530Lys) http://identifiers.org/clinvar/259547 ^@ NM_004813.2(PEX16):c.873T>C (p.Tyr291=) http://identifiers.org/clinvar/259748 ^@ NM_005343.3(HRAS):c.42G>A (p.Val14=) http://identifiers.org/clinvar/259798 ^@ NM_005591.3(MRE11):c.20+28G>A http://identifiers.org/clinvar/260748 ^@ NM_016569.3(TBX3):c.1155T>C (p.His385=) http://identifiers.org/clinvar/256598 ^@ NM_000545.6(HNF1A):c.1623+3A>G http://identifiers.org/clinvar/257148 ^@ NM_001025356.2(ANO6):c.936C>T (p.Ala312=) http://identifiers.org/clinvar/254709 ^@ NM_000020.2(ACVRL1):c.1377+45T>C http://identifiers.org/clinvar/256698 ^@ NM_000552.4(VWF):c.7682T>A (p.Phe2561Tyr) http://identifiers.org/clinvar/255159 ^@ NM_000123.3(ERCC5):c.1440C>T (p.His480=) http://identifiers.org/clinvar/260398 ^@ NM_014363.5(SACS):c.346-47G>A http://identifiers.org/clinvar/254759 ^@ NM_000053.3(ATP7B):c.1543+14G>A http://identifiers.org/clinvar/257098 ^@ NM_001024858.2(SPTB):c.1316G>A (p.Ser439Asn) http://identifiers.org/clinvar/260298 ^@ NM_013382.5(POMT2):c.1891+49C>T http://identifiers.org/clinvar/254859 ^@ NM_000070.2(CAPN3):c.1302C>T (p.Asn434=) http://identifiers.org/clinvar/335684 ^@ NM_004304.4(ALK):c.*53G>C http://identifiers.org/clinvar/332593 ^@ NM_003659.3(AGPS):c.*4516_*4517delAT http://identifiers.org/clinvar/335734 ^@ NM_000379.3(XDH):c.*1516C>T http://identifiers.org/clinvar/335184 ^@ NM_004544.3(NDUFA10):c.*1129G>A http://identifiers.org/clinvar/335934 ^@ NM_000104.3(CYP1B1):c.*1005C>T http://identifiers.org/clinvar/333143 ^@ NM_000393.4(COL5A2):c.2423C>T (p.Pro808Leu) http://identifiers.org/clinvar/335984 ^@ NM_005633.3(SOS1):c.*2208dupC http://identifiers.org/clinvar/335284 ^@ NM_004321.7(KIF1A):c.183+15C>T http://identifiers.org/clinvar/336034 ^@ NM_022436.2(ABCG5):c.1873C>G (p.Leu625Val) http://identifiers.org/clinvar/333043 ^@ NM_002500.4(NEUROD1):c.-102G>A http://identifiers.org/clinvar/336184 ^@ NM_000341.3(SLC3A1):c.114A>C (p.Gly38=) http://identifiers.org/clinvar/335484 ^@ NM_000221.2(KHK):c.210-11C>T http://identifiers.org/clinvar/333443 ^@ NM_032977.3(CASP10):c.*77T>G http://identifiers.org/clinvar/333093 ^@ NM_000393.4(COL5A2):c.*2131T>A http://identifiers.org/clinvar/333193 ^@ NM_000534.4(PMS1):c.-193T>C http://identifiers.org/clinvar/336384 ^@ NM_139279.5(MCFD2):c.106C>G (p.Pro36Ala) http://identifiers.org/clinvar/333643 ^@ NM_001204.6(BMPR2):c.1302G>A (p.Met434Ile) http://identifiers.org/clinvar/335634 ^@ NM_001029883.2(C2orf71):c.*34C>A http://identifiers.org/clinvar/333243 ^@ NM_005259.2(MSTN):c.180C>T (p.Ile60=) http://identifiers.org/clinvar/336491 ^@ NM_000145.3(FSHR):c.373C>A (p.Leu125Met) http://identifiers.org/clinvar/333693 ^@ NM_001204.6(BMPR2):c.*3794T>C http://identifiers.org/clinvar/333293 ^@ NM_007315.3(STAT1):c.63T>C (p.Leu21=) http://identifiers.org/clinvar/336591 ^@ NM_001135659.2(NRXN1):c.-1395G>A http://identifiers.org/clinvar/333743 ^@ NM_012092.3(ICOS):c.*330G>A http://identifiers.org/clinvar/336641 ^@ NM_001039348.2(EFEMP1):c.-196C>T http://identifiers.org/clinvar/333793 ^@ NM_014929.3(FASTKD2):c.-123T>G http://identifiers.org/clinvar/335884 ^@ NM_014946.3(SPAST):c.*2583C>T http://identifiers.org/clinvar/336791 ^@ NM_002056.3(GFPT1):c.*5354G>A http://identifiers.org/clinvar/336841 ^@ NM_002056.3(GFPT1):c.*2223C>T http://identifiers.org/clinvar/336234 ^@ NM_001430.4(EPAS1):c.26+8G>A http://identifiers.org/clinvar/337341 ^@ NM_003896.3(ST3GAL5):c.-91G>A http://identifiers.org/clinvar/337491 ^@ NM_017849.3(TMEM127):c.*883C>G http://identifiers.org/clinvar/333993 ^@ NM_001608.3(ACADL):c.654C>T (p.Val218=) http://identifiers.org/clinvar/334195 ^@ NM_000465.3(BARD1):c.245G>T (p.Gly82Val) http://identifiers.org/clinvar/334245 ^@ NM_173076.2(ABCA12):c.4225A>G (p.Ile1409Val) http://identifiers.org/clinvar/334345 ^@ NM_015488.4(PNKD):c.*1077G>A http://identifiers.org/clinvar/335134 ^@ NM_004369.3(COL6A3):c.2253A>G (p.Thr751=) http://identifiers.org/clinvar/335434 ^@ NM_194248.2(OTOF):c.5097C>G (p.Ile1699Met) http://identifiers.org/clinvar/335584 ^@ NM_001029883.2(C2orf71):c.*2481G>A http://identifiers.org/clinvar/335234 ^@ NM_004321.7(KIF1A):c.*1776C>T http://identifiers.org/clinvar/335384 ^@ NM_000182.4(HADHA):c.676+6T>C http://identifiers.org/clinvar/336134 ^@ NM_133259.3(LRPPRC):c.*590C>T http://identifiers.org/clinvar/335784 ^@ NM_000379.3(XDH):c.1687-8C>A http://identifiers.org/clinvar/357326 ^@ NM_003221.3(TFAP2B):c.*2200C>T http://identifiers.org/clinvar/357626 ^@ NM_183227.2(RAB23):c.*1312A>G http://identifiers.org/clinvar/357776 ^@ NM_018368.3(LMBRD1):c.498C>T (p.Pro166=) http://identifiers.org/clinvar/351039 ^@ NM_001369.2(DNAH5):c.11349C>T (p.Val3783=) http://identifiers.org/clinvar/358076 ^@ NM_181714.3(LCA5):c.*1044A>C http://identifiers.org/clinvar/354986 ^@ NM_001242957.1(MAK):c.-239A>C http://identifiers.org/clinvar/355086 ^@ NM_000493.3(COL10A1):c.*196T>C http://identifiers.org/clinvar/355287 ^@ NM_000426.3(LAMA2):c.6410C>T (p.Ala2137Val) http://identifiers.org/clinvar/351539 ^@ NM_006846.3(SPINK5):c.2895G>A (p.Lys965=) http://identifiers.org/clinvar/351689 ^@ NM_024577.3(SH3TC2):c.*11852G>T http://identifiers.org/clinvar/351839 ^@ NM_024577.3(SH3TC2):c.*3196T>C http://identifiers.org/clinvar/359115 ^@ NM_000083.2(CLCN1):c.1867G>A (p.Gly623Arg) http://identifiers.org/clinvar/351739 ^@ NM_024577.3(SH3TC2):c.*9361C>T http://identifiers.org/clinvar/359265 ^@ NM_014141.5(CNTNAP2):c.*4195T>C http://identifiers.org/clinvar/351989 ^@ NM_000440.2(PDE6A):c.1408-11G>A http://identifiers.org/clinvar/352237 ^@ NM_001135243.1(TCOF1):c.4455G>A (p.Glu1485=) http://identifiers.org/clinvar/352087 ^@ NM_000112.3(SLC26A2):c.*4460G>T http://identifiers.org/clinvar/359715 ^@ NM_032581.3(FAM126A):c.*4221G>C http://identifiers.org/clinvar/352337 ^@ NM_000337.5(SGCD):c.*148G>A http://identifiers.org/clinvar/359815 ^@ NM_001031710.2(KLHL7):c.*913T>C http://identifiers.org/clinvar/359915 ^@ NM_018947.5(CYCS):c.*2123A>T http://identifiers.org/clinvar/352287 ^@ NM_000405.4(GM2A):c.*1866C>T http://identifiers.org/clinvar/360015 ^@ NM_002047.3(GARS):c.1761G>A (p.Thr587=) http://identifiers.org/clinvar/360115 ^@ NM_133468.4(BMPER):c.1797C>T (p.Cys599=) http://identifiers.org/clinvar/360215 ^@ NM_000168.5(GLI3):c.*248delT http://identifiers.org/clinvar/360365 ^@ NM_014855.2(AP5Z1):c.*896C>T http://identifiers.org/clinvar/360415 ^@ NM_014855.2(AP5Z1):c.*2769_*2770delCT http://identifiers.org/clinvar/357376 ^@ NM_138694.3(PKHD1):c.*2031A>G http://identifiers.org/clinvar/360865 ^@ NM_194456.1(KRIT1):c.*1385A>G http://identifiers.org/clinvar/357476 ^@ NM_018100.3(EFHC1):c.-162C>T http://identifiers.org/clinvar/357676 ^@ NM_000129.3(F13A1):c.327C>T (p.Tyr109=) http://identifiers.org/clinvar/357826 ^@ NM_014989.5(RIMS1):c.-127G>A http://identifiers.org/clinvar/357926 ^@ NM_012434.4(SLC17A5):c.-56C>G http://identifiers.org/clinvar/364403 ^@ NM_005502.3(ABCA1):c.4222C>T (p.Leu1408Phe) http://identifiers.org/clinvar/307260 ^@ NM_002834.4(PTPN11):c.*3231T>G http://identifiers.org/clinvar/364653 ^@ NM_000031.5(ALAD):c.168T>C (p.Tyr56=) http://identifiers.org/clinvar/364453 ^@ NM_005502.3(ABCA1):c.814-14dupA http://identifiers.org/clinvar/364703 ^@ NM_015404.3(WHRN):c.-295C>G http://identifiers.org/clinvar/307360 ^@ NM_005996.3(TBX3):c.1671C>G (p.Thr557=) http://identifiers.org/clinvar/300606 ^@ NM_004273.4(CHST3):c.*1361C>T http://identifiers.org/clinvar/364503 ^@ NM_001079802.1(FKTN):c.*1845G>T http://identifiers.org/clinvar/364753 ^@ NM_018249.5(CDK5RAP2):c.4962C>T (p.His1654=) http://identifiers.org/clinvar/307510 ^@ NM_152269.4(C12orf65):c.*696_*699delGAAA http://identifiers.org/clinvar/300706 ^@ NM_016065.3(MRPS16):c.*593A>G http://identifiers.org/clinvar/364803 ^@ NM_000177.4(GSN):c.535G>A (p.Val179Met) http://identifiers.org/clinvar/364553 ^@ NM_003640.4(IKBKAP):c.3791A>G (p.Gln1264Arg) http://identifiers.org/clinvar/307660 ^@ NM_004064.4(CDKN1B):c.121T>C (p.Leu41=) http://identifiers.org/clinvar/300906 ^@ NM_012330.3(KAT6B):c.*287C>T http://identifiers.org/clinvar/307810 ^@ NM_172364.4(CACNA2D4):c.*1217C>G http://identifiers.org/clinvar/300956 ^@ NM_002247.3(KCNMA1):c.*223A>G http://identifiers.org/clinvar/307960 ^@ NM_006446.4(SLCO1B1):c.1983T>C (p.Asn661=) http://identifiers.org/clinvar/301056 ^@ NM_007055.3(POLR3A):c.2472C>T (p.His824=) http://identifiers.org/clinvar/365103 ^@ NM_000118.3(ENG):c.-246T>C http://identifiers.org/clinvar/365203 ^@ NM_014908.3(DOLK):c.-255C>T http://identifiers.org/clinvar/301106 ^@ NM_001002295.1(GATA3):c.-351C>T http://identifiers.org/clinvar/365003 ^@ NM_138361.5(LRSAM1):c.-458A>G http://identifiers.org/clinvar/365153 ^@ NM_001130438.2(SPTAN1):c.-27A>G http://identifiers.org/clinvar/301556 ^@ NM_000235.3(LIPA):c.*876C>G http://identifiers.org/clinvar/365653 ^@ NM_000787.3(DBH):c.1024+6C>G http://identifiers.org/clinvar/365303 ^@ NM_015046.5(SETX):c.*2576_*2577delAA http://identifiers.org/clinvar/365353 ^@ NM_015046.5(SETX):c.4612C>T (p.Arg1538Trp) http://identifiers.org/clinvar/365403 ^@ NM_000368.4(TSC1):c.*4072G>A http://identifiers.org/clinvar/365453 ^@ NM_000368.4(TSC1):c.*2446A>G http://identifiers.org/clinvar/365503 ^@ NM_000368.4(TSC1):c.*295C>A http://identifiers.org/clinvar/365553 ^@ NM_139025.4(ADAMTS13):c.2217C>T (p.Leu739=) http://identifiers.org/clinvar/309649 ^@ NM_006121.3(KRT1):c.762G>A (p.Ser254=) http://identifiers.org/clinvar/309699 ^@ NM_002272.3(KRT4):c.456C>T (p.Ile152=) http://identifiers.org/clinvar/309799 ^@ NM_002206.2(ITGA7):c.472G>C (p.Asp158His) http://identifiers.org/clinvar/309899 ^@ NM_005379.3(MYO1A):c.2725-8G>A http://identifiers.org/clinvar/309949 ^@ NM_004984.2(KIF5A):c.2881G>A (p.Ala961Thr) http://identifiers.org/clinvar/309999 ^@ NM_000785.3(CYP27B1):c.794A>T (p.Gln265Leu) http://identifiers.org/clinvar/310349 ^@ NM_000239.2(LYZ):c.*521G>A http://identifiers.org/clinvar/310449 ^@ NM_001131025.1(PEX5):c.*628G>A http://identifiers.org/clinvar/310599 ^@ NM_025114.3(CEP290):c.4854G>T (p.Lys1618Asn) http://identifiers.org/clinvar/302845 ^@ NM_005188.3(CBL):c.*4088C>T http://identifiers.org/clinvar/303045 ^@ NM_005422.2(TECTA):c.6301C>T (p.Arg2101Trp) http://identifiers.org/clinvar/314482 ^@ NM_004452.3(ESRRB):c.127G>A (p.Gly43Ser) http://identifiers.org/clinvar/314632 ^@ NM_004863.3(SPTLC2):c.*2159A>G http://identifiers.org/clinvar/314682 ^@ NM_004863.3(SPTLC2):c.-30G>A http://identifiers.org/clinvar/340971 ^@ NM_022081.5(HPS4):c.*1253G>A http://identifiers.org/clinvar/341021 ^@ NM_022081.5(HPS4):c.373C>G (p.Leu125Val) http://identifiers.org/clinvar/322617 ^@ NM_002878.3(RAD51D):c.*367G>A http://identifiers.org/clinvar/314932 ^@ NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) http://identifiers.org/clinvar/341271 ^@ NM_000343.3(SLC5A1):c.*423dupT http://identifiers.org/clinvar/314982 ^@ NM_004239.4(TRIP11):c.-24G>A http://identifiers.org/clinvar/315032 ^@ NM_000295.4(SERPINA1):c.6G>A (p.Pro2=) http://identifiers.org/clinvar/315082 ^@ NM_177438.2(DICER1):c.*1199C>T http://identifiers.org/clinvar/322917 ^@ NM_004937.2(CTNS):c.*2527G>A http://identifiers.org/clinvar/315382 ^@ NM_144599.4(NIPA1):c.*2209T>C http://identifiers.org/clinvar/323017 ^@ NM_001004334.3(GPR179):c.1784+8C>T http://identifiers.org/clinvar/315432 ^@ NM_022807.4(SNRPN):c.-636C>A http://identifiers.org/clinvar/323117 ^@ NM_000226.3(KRT9):c.1560C>T (p.Tyr520=) http://identifiers.org/clinvar/323167 ^@ NM_002230.2(JUP):c.1806C>T (p.Arg602=) http://identifiers.org/clinvar/315532 ^@ NM_002420.5(TRPM1):c.780G>C (p.Val260=) http://identifiers.org/clinvar/323317 ^@ NM_032387.4(WNK4):c.1339G>A (p.Asp447Asn) http://identifiers.org/clinvar/314232 ^@ NM_182894.2(VSX2):c.*1757A>T http://identifiers.org/clinvar/368082 ^@ NM_000054.4(AVPR2):c.*204C>T http://identifiers.org/clinvar/314382 ^@ NM_001040108.1(MLH3):c.2825C>T (p.Thr942Ile) http://identifiers.org/clinvar/316321 ^@ NM_000138.4(FBN1):c.*1943G>T http://identifiers.org/clinvar/314432 ^@ NM_017791.2(FLVCR2):c.*1411_*1412delAT http://identifiers.org/clinvar/368582 ^@ NM_006306.3(SMC1A):c.*703G>T http://identifiers.org/clinvar/368682 ^@ NM_153252.4(BRWD3):c.*6439G>A http://identifiers.org/clinvar/316721 ^@ NM_016630.6(SPG21):c.360A>G (p.Glu120=) http://identifiers.org/clinvar/316921 ^@ NM_005902.3(SMAD3):c.*1831G>T http://identifiers.org/clinvar/314882 ^@ NM_006329.3(FBLN5):c.-9G>T http://identifiers.org/clinvar/324865 ^@ NM_000891.2(KCNJ2):c.*1721dupT http://identifiers.org/clinvar/315282 ^@ NM_139057.3(ADAMTS17):c.1840C>T (p.Arg614Trp) http://identifiers.org/clinvar/317372 ^@ NM_198525.2(KIF7):c.960G>A (p.Thr320=) http://identifiers.org/clinvar/317422 ^@ NM_018668.4(VPS33B):c.1170+5G>A http://identifiers.org/clinvar/317472 ^@ NM_000875.4(IGF1R):c.*134C>T http://identifiers.org/clinvar/315582 ^@ NM_133647.1(SLC12A6):c.*1846C>G http://identifiers.org/clinvar/325215 ^@ NM_001005731.2(ITGB4):c.5019G>A (p.Pro1673=) http://identifiers.org/clinvar/317622 ^@ NM_000875.4(IGF1R):c.*5771delA http://identifiers.org/clinvar/315182 ^@ NM_139057.3(ADAMTS17):c.*1546G>A http://identifiers.org/clinvar/325615 ^@ NM_006640.4(SEPT9):c.*1724G>A http://identifiers.org/clinvar/316421 ^@ NM_014985.3(CEP152):c.2523T>G (p.Ile841Met) http://identifiers.org/clinvar/371837 ^@ NM_000059.3(BRCA2):c.1223T>C (p.Met408Thr) http://identifiers.org/clinvar/372087 ^@ NM_058216.2(RAD51C):c.145+2T>G http://identifiers.org/clinvar/371937 ^@ NM_001256849.1(POLD1):c.2250+16C>T http://identifiers.org/clinvar/371987 ^@ NM_007194.3(CHEK2):c.1462-20T>C http://identifiers.org/clinvar/372144 ^@ NM_001204527.1(SSR4):c.382_383delAG (p.Arg128Glufs) http://identifiers.org/clinvar/372211 ^@ NM_013247.4(HTRA2):c.906+1G>C http://identifiers.org/clinvar/373532 ^@ NM_001035.2(RYR2):c.728A>G (p.Glu243Gly) http://identifiers.org/clinvar/373132 ^@ NM_001103.3(ACTN2):c.1708G>A (p.Gly570Arg) http://identifiers.org/clinvar/373282 ^@ NM_001165963.1(SCN1A):c.2927T>C (p.Met976Thr) http://identifiers.org/clinvar/372982 ^@ NM_021007.2(SCN2A):c.3972G>A (p.Arg1324=) http://identifiers.org/clinvar/373332 ^@ NM_005017.3(PCYT1A):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/373032 ^@ NM_002880.3(RAF1):c.433A>C (p.Thr145Pro) http://identifiers.org/clinvar/373232 ^@ NM_014845.5(FIG4):c.2639T>A (p.Ile880Asn) http://identifiers.org/clinvar/373432 ^@ NM_033071.3(SYNE1):c.23432A>G (p.Glu7811Gly) http://identifiers.org/clinvar/373782 ^@ NM_001999.3(FBN2):c.1938A>G (p.Gly646=) http://identifiers.org/clinvar/373732 ^@ NM_000834.3(GRIN2B):c.1780+2_1780+3delTAinsGT http://identifiers.org/clinvar/373482 ^@ NM_024312.4(GNPTAB):c.2148G>C (p.Leu716Phe) http://identifiers.org/clinvar/372932 ^@ NM_006939.3(SOS2):c.2621G>A (p.Ser874Asn) http://identifiers.org/clinvar/373632 ^@ NM_020778.4(ALPK3):c.761A>C (p.Asn254Thr) http://identifiers.org/clinvar/373082 ^@ NM_000548.4(TSC2):c.3653delC (p.Pro1218Leufs) http://identifiers.org/clinvar/372879 ^@ NM_144997.5(FLCN):c.1578_1599del22 (p.Ser526Argfs) http://identifiers.org/clinvar/373582 ^@ NM_173630.3(RTTN):c.5527G>C (p.Asp1843His) http://identifiers.org/clinvar/373182 ^@ NM_000744.6(CHRNA4):c.1583C>T (p.Pro528Leu) http://identifiers.org/clinvar/373382 ^@ NM_001031695.2(RBFOX2):c.706C>T (p.Pro236Ser) http://identifiers.org/clinvar/373682 ^@ NM_000933.3(PLCB4):c.448C>G (p.His150Asp) http://identifiers.org/clinvar/372828 ^@ NM_021140.3(KDM6A):c.2200A>G (p.Thr734Ala) http://identifiers.org/clinvar/373832 ^@ NG_005905.2:g.133626_139705dup http://identifiers.org/clinvar/373882 ^@ NG_005905.2:g.(?_92501)_(150377_154032)del http://identifiers.org/clinvar/374185 ^@ NM_000751.2(CHRND):c.1385G>T (p.Trp462Leu) http://identifiers.org/clinvar/374085 ^@ NM_016955.3(SEPSECS):c.388+5G>A http://identifiers.org/clinvar/373985 ^@ NM_001256182.1(ANKRD11):c.4475_4498dup24 (p.Glu1499_Gln1500insLeuLeuArgHisHisArgAspGlu) http://identifiers.org/clinvar/374135 ^@ NM_000540.2(RYR1):c.4115C>T (p.Ala1372Val) http://identifiers.org/clinvar/373935 ^@ NM_020533.2(MCOLN1):c.777+1G>C http://identifiers.org/clinvar/374035 ^@ NM_002024.5(FMR1):c.199-2A>G http://identifiers.org/clinvar/374239 ^@ NM_001193347.1(MEF2C):c.152C>T (p.Thr51Ile) http://identifiers.org/clinvar/374677 ^@ NM_004984.2(KIF5A):c.605G>C (p.Ser202Thr) http://identifiers.org/clinvar/374727 ^@ NM_001040142.1(SCN2A):c.1923T>C (p.Asn641=) http://identifiers.org/clinvar/388972 ^@ NM_000393.4(COL5A2):c.369+20T>A http://identifiers.org/clinvar/390961 ^@ NM_053025.3(MYLK):c.-127+7G>A http://identifiers.org/clinvar/388572 ^@ NM_001135659.2(NRXN1):c.1989T>G (p.Ala663=) http://identifiers.org/clinvar/382390 ^@ NM_205847.2(GMPPA):c.40+15G>A http://identifiers.org/clinvar/384043 ^@ NM_178862.2(STT3B):c.747A>G (p.Thr249=) http://identifiers.org/clinvar/388172 ^@ NM_015662.2(IFT172):c.3872A>G (p.Glu1291Gly) http://identifiers.org/clinvar/384443 ^@ NM_024334.2(TMEM43):c.781-13G>T http://identifiers.org/clinvar/390611 ^@ NM_020800.2(IFT80):c.1406A>G (p.Asp469Gly) http://identifiers.org/clinvar/389272 ^@ NM_000249.3(MLH1):c.840T>C (p.Tyr280=) http://identifiers.org/clinvar/382440 ^@ NM_024592.4(SRD5A3):c.365-15C>T http://identifiers.org/clinvar/378583 ^@ NM_003060.3(SLC22A5):c.680G>A (p.Arg227His) http://identifiers.org/clinvar/385933 ^@ NM_000038.5(APC):c.4341A>G (p.Gln1447=) http://identifiers.org/clinvar/390811 ^@ NM_032446.2(MEGF10):c.2411G>A (p.Cys804Tyr) http://identifiers.org/clinvar/378077 ^@ NM_020117.10(LARS):c.3097-11C>T http://identifiers.org/clinvar/382741 ^@ NM_033071.3(SYNE1):c.22933-16T>A http://identifiers.org/clinvar/381889 ^@ NM_133433.3(NIPBL):c.6764-4G>C http://identifiers.org/clinvar/385983 ^@ NM_033071.3(SYNE1):c.17329-14A>G http://identifiers.org/clinvar/392900 ^@ NM_015450.2(POT1):c.107A>G (p.Tyr36Cys) http://identifiers.org/clinvar/389911 ^@ NM_020320.4(RARS2):c.395+14C>T http://identifiers.org/clinvar/383191 ^@ NM_001203.2(BMPR1B):c.469C>T (p.Pro157Ser) http://identifiers.org/clinvar/385583 ^@ NM_014251.2(SLC25A13):c.1236C>T (p.Asn412=) http://identifiers.org/clinvar/382139 ^@ NM_002291.2(LAMB1):c.-22C>T http://identifiers.org/clinvar/386333 ^@ NM_000238.3(KCNH2):c.960G>A (p.Ser320=) http://identifiers.org/clinvar/386033 ^@ NM_152416.3(NDUFAF6):c.222A>G (p.Leu74=) http://identifiers.org/clinvar/385483 ^@ NM_021911.2(GABRB2):c.1227C>T (p.Leu409=) http://identifiers.org/clinvar/387922 ^@ NM_198428.2(BBS9):c.2488G>A (p.Asp830Asn) http://identifiers.org/clinvar/384343 ^@ NM_004408.3(DNM1):c.1422+9C>G http://identifiers.org/clinvar/385733 ^@ NM_000535.6(PMS2):c.2446-18A>G http://identifiers.org/clinvar/385883 ^@ NM_000535.6(PMS2):c.904-19C>T http://identifiers.org/clinvar/385383 ^@ NM_023073.3(C5orf42):c.1839A>G (p.Lys613=) http://identifiers.org/clinvar/391261 ^@ NM_000093.4(COL5A1):c.2898+20C>T http://identifiers.org/clinvar/382891 ^@ NM_033071.3(SYNE1):c.1750+8A>G http://identifiers.org/clinvar/384393 ^@ NM_004408.3(DNM1):c.2391C>T (p.Gly797=) http://identifiers.org/clinvar/382841 ^@ NM_000077.4(CDKN2A):c.-19510G>A http://identifiers.org/clinvar/391011 ^@ NM_002485.4(NBN):c.741G>A (p.Gly247=) http://identifiers.org/clinvar/388672 ^@ NM_000264.3(PTCH1):c.2466A>G (p.Leu822=) http://identifiers.org/clinvar/133025 ^@ NM_000540.2(RYR1):c.11953T>C (p.Trp3985Arg) http://identifiers.org/clinvar/133125 ^@ NM_000540.2(RYR1):c.3382-410T>G http://identifiers.org/clinvar/133175 ^@ NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) http://identifiers.org/clinvar/133225 ^@ NM_000540.2(RYR1):c.8400+61C>T http://identifiers.org/clinvar/133304 ^@ NM_022124.5(CDH23):c.3929C>A (p.Ala1310Asp) http://identifiers.org/clinvar/133367 ^@ NM_017617.4(NOTCH1):c.5167+43_5167+44delGGinsT http://identifiers.org/clinvar/133417 ^@ NM_003820.3(TNFRSF14):c.552-140C>T http://identifiers.org/clinvar/133467 ^@ NM_004304.4(ALK):c.3080C>T (p.Pro1027Leu) http://identifiers.org/clinvar/133518 ^@ NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) http://identifiers.org/clinvar/133568 ^@ NM_152641.3(ARID2):c.4300G>T (p.Ala1434Ser) http://identifiers.org/clinvar/133618 ^@ NM_000051.3(ATM):c.3963G>A (p.Met1321Ile) http://identifiers.org/clinvar/133668 ^@ NM_001706.4(BCL6):c.1549_1550delGCinsAT (p.Ala517Ile) http://identifiers.org/clinvar/134667 ^@ NM_003482.3(KMT2D):c.2546C>T (p.Ser849Leu) http://identifiers.org/clinvar/135124 ^@ NM_000321.2(RB1):c.2260G>C (p.Val754Leu) http://identifiers.org/clinvar/135175 ^@ NM_004260.3(RECQL4):c.1519G>A (p.Gly507Ser) http://identifiers.org/clinvar/135356 ^@ NM_003820.3(TNFRSF14):c.785C>T (p.Pro262Leu) http://identifiers.org/clinvar/135407 ^@ NM_000551.3(VHL):c.558A>C (p.Glu186Asp) http://identifiers.org/clinvar/135457 ^@ NM_000380.3(XPA):c.497T>C (p.Val166Ala) http://identifiers.org/clinvar/135507 ^@ NM_000545.6(HNF1A):c.1624-29G>A http://identifiers.org/clinvar/135557 ^@ NM_001127500.2(MET):c.1701+58_1701+59insTG http://identifiers.org/clinvar/135632 ^@ NM_006618.4(KDM5B):c.1701+1G>A http://identifiers.org/clinvar/135692 ^@ NM_000038.5(APC):c.263G>A (p.Arg88Gln) http://identifiers.org/clinvar/135743 ^@ NM_000051.3(ATM):c.2207C>T (p.Ala736Val) http://identifiers.org/clinvar/135799 ^@ NM_000059.3(BRCA2):c.4081C>G (p.Gln1361Glu) http://identifiers.org/clinvar/135852 ^@ NM_000249.3(MLH1):c.242C>T (p.Thr81Ile) http://identifiers.org/clinvar/135902 ^@ NM_000264.3(PTCH1):c.48C>T (p.Gly16=) http://identifiers.org/clinvar/135952 ^@ NM_000551.3(VHL):c.191G>A (p.Arg64His) http://identifiers.org/clinvar/136004 ^@ NM_001166110.1(PALLD):c.236C>T (p.Ala79Val) http://identifiers.org/clinvar/136054 ^@ NM_004329.2(BMPR1A):c.749T>C (p.Met250Thr) http://identifiers.org/clinvar/136105 ^@ NM_020975.4(RET):c.1920C>T (p.Ala640=) http://identifiers.org/clinvar/136155 ^@ NM_058216.2(RAD51C):c.1027-2A>G http://identifiers.org/clinvar/136216 ^@ NM_020745.3(AARS2):c.2426T>A (p.Leu809Gln) http://identifiers.org/clinvar/136266 ^@ NM_001098.2(ACO2):c.1980C>T (p.Ile660=) http://identifiers.org/clinvar/136317 ^@ NM_006796.2(AFG3L2):c.-32C>T http://identifiers.org/clinvar/136368 ^@ NM_001182.4(ALDH7A1):c.615C>T (p.Asn205=) http://identifiers.org/clinvar/186257 ^@ NM_001042492.2(NF1):c.7742C>G (p.Thr2581Ser) http://identifiers.org/clinvar/186357 ^@ NM_002878.3(RAD51D):c.171G>A (p.Leu57=) http://identifiers.org/clinvar/186507 ^@ NM_007294.3(BRCA1):c.4743A>G (p.Glu1581=) http://identifiers.org/clinvar/186759 ^@ NM_007294.3(BRCA1):c.2666C>T (p.Ser889Phe) http://identifiers.org/clinvar/184268 ^@ NM_007294.3(BRCA1):c.564A>G (p.Glu188=) http://identifiers.org/clinvar/187748 ^@ NM_058216.2(RAD51C):c.945T>C (p.Phe315=) http://identifiers.org/clinvar/186057 ^@ NM_032043.2(BRIP1):c.3521G>C (p.Arg1174Thr) http://identifiers.org/clinvar/185807 ^@ NM_005359.5(SMAD4):c.1248A>G (p.Arg416=) http://identifiers.org/clinvar/187802 ^@ NM_002875.4(RAD51):c.140A>G (p.His47Arg) http://identifiers.org/clinvar/187881 ^@ NM_005957.4(MTHFR):c.760C>T (p.Pro254Ser) http://identifiers.org/clinvar/188341 ^@ NM_000179.2(MSH6):c.1255C>G (p.Gln419Glu) http://identifiers.org/clinvar/188288 ^@ NM_001127500.2(MET):c.3119G>A (p.Arg1040Gln) http://identifiers.org/clinvar/188235 ^@ NM_000264.3(PTCH1):c.2495T>A (p.Val832Asp) http://identifiers.org/clinvar/188183 ^@ NM_130799.2(MEN1):c.1636_1638dupCCG (p.Pro546_Glu547insPro) http://identifiers.org/clinvar/188397 ^@ NM_000267.3(NF1):c.1733dupT (p.Tyr580Leufs) http://identifiers.org/clinvar/188551 ^@ NM_000256.3(MYBPC3):c.1467C>G (p.Asp489Glu) http://identifiers.org/clinvar/188651 ^@ NM_004572.3(PKP2):c.-22C>G http://identifiers.org/clinvar/188601 ^@ NM_000257.3(MYH7):c.797-17T>C http://identifiers.org/clinvar/188701 ^@ NM_001018005.1(TPM1):c.639+21G>A http://identifiers.org/clinvar/188451 ^@ NM_001943.4(DSG2):c.593A>G (p.Tyr198Cys) http://identifiers.org/clinvar/188501 ^@ NM_004992.3(MECP2):c.1129A>G (p.Lys377Glu) http://identifiers.org/clinvar/188952 ^@ NM_014625.3(NPHS2):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/188851 ^@ NM_000466.2(PEX1):c.2391_2392delTC (p.Arg798Serfs) http://identifiers.org/clinvar/189053 ^@ NM_000136.2(FANCC):c.844-1G>C http://identifiers.org/clinvar/189153 ^@ NM_000543.4(SMPD1):c.518dupT (p.Ser174Leufs) http://identifiers.org/clinvar/189103 ^@ NM_024649.4(BBS1):c.1131_1135delCTTTG (p.Cys377Trpfs) http://identifiers.org/clinvar/189003 ^@ NM_000153.3(GALC):c.599C>A (p.Ser200Ter) http://identifiers.org/clinvar/188751 ^@ NM_000137.2(FAH):c.520C>T (p.Arg174Ter) http://identifiers.org/clinvar/188902 ^@ NM_000152.4(GAA):c.1942G>A (p.Gly648Ser) http://identifiers.org/clinvar/188801 ^@ NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) http://identifiers.org/clinvar/189203 ^@ NM_016035.4(COQ4):c.521_523delCCA (p.Thr174del) http://identifiers.org/clinvar/189271 ^@ NM_014795.3(ZEB2):c.1541_1542insA (p.Val515Glyfs) http://identifiers.org/clinvar/189330 ^@ NM_005397.3(PODXL):c.1325T>G (p.Leu442Arg) http://identifiers.org/clinvar/189478 ^@ NM_000314.6(PTEN):c.-989T>C http://identifiers.org/clinvar/189420 ^@ NM_000314.6(PTEN):c.801+1G>A http://identifiers.org/clinvar/189693 ^@ NM_004992.3(MECP2):c.27-12521_*5072del http://identifiers.org/clinvar/189643 ^@ NM_004992.3(MECP2):c.1057_1219del163 (p.Gly353Thrfs) http://identifiers.org/clinvar/189543 ^@ NM_003159.2(CDKL5):c.403+27A>G http://identifiers.org/clinvar/189593 ^@ NM_003159.2(CDKL5):c.510_511dupGT (p.Tyr171Cysfs) http://identifiers.org/clinvar/226586 ^@ NM_001277115.1(DNAH11):c.5152A>G (p.Ile1718Val) http://identifiers.org/clinvar/228568 ^@ NM_015404.3(WHRN):c.998G>A (p.Ser333Asn) http://identifiers.org/clinvar/228618 ^@ NM_014908.3(DOLK):c.196C>T (p.Gln66Ter) http://identifiers.org/clinvar/229318 ^@ NM_138691.2(TMC1):c.1902C>G (p.Asn634Lys) http://identifiers.org/clinvar/227778 ^@ NM_001277269.1(OTOG):c.4057C>T (p.Arg1353Trp) http://identifiers.org/clinvar/228868 ^@ NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) http://identifiers.org/clinvar/227828 ^@ NM_012226.4(P2RX2):c.1003G>A (p.Gly335Ser) http://identifiers.org/clinvar/229118 ^@ NM_173591.3(OTOGL):c.3578G>A (p.Cys1193Tyr) http://identifiers.org/clinvar/228918 ^@ NM_000257.3(MYH7):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/229268 ^@ NM_152594.2(SPRED1):c.-12G>T http://identifiers.org/clinvar/229068 ^@ NM_144672.3(OTOA):c.605G>C (p.Arg202Pro) http://identifiers.org/clinvar/228968 ^@ NM_016239.3(MYO15A):c.931G>T (p.Asp311Tyr) http://identifiers.org/clinvar/226486 ^@ NM_017950.3(CCDC40):c.1131C>T (p.Cys377=) http://identifiers.org/clinvar/229018 ^@ NM_003803.3(MYOM1):c.2137C>T (p.Arg713Cys) http://identifiers.org/clinvar/228818 ^@ NM_144612.6(LOXHD1):c.2332G>A (p.Gly778Ser) http://identifiers.org/clinvar/227578 ^@ NM_001145809.1(MYH14):c.4098G>A (p.Lys1366=) http://identifiers.org/clinvar/227628 ^@ NM_033118.3(MYLK2):c.972+13C>T http://identifiers.org/clinvar/228518 ^@ NM_001146077.1(CLDN14):c.185A>G (p.Tyr62Cys) http://identifiers.org/clinvar/229368 ^@ NM_001039141.2(TRIOBP):c.6515G>A (p.Arg2172Gln) http://identifiers.org/clinvar/227678 ^@ NM_000260.3(MYO7A):c.1623C>G (p.Pro541=) http://identifiers.org/clinvar/234256 ^@ NM_018136.4(ASPM):c.6275A>T (p.Asn2092Ile) http://identifiers.org/clinvar/234484 ^@ NM_000179.2(MSH6):c.1502_1511delATATATCCAA (p.His501Argfs) http://identifiers.org/clinvar/234586 ^@ NM_000249.3(MLH1):c.157G>A (p.Glu53Lys) http://identifiers.org/clinvar/234887 ^@ NM_001999.3(FBN2):c.4714G>T (p.Val1572Phe) http://identifiers.org/clinvar/234736 ^@ NM_002485.4(NBN):c.2108_2109dupTT (p.Gly704Leufs) http://identifiers.org/clinvar/234686 ^@ NM_000314.6(PTEN):c.-1121A>T http://identifiers.org/clinvar/234434 ^@ NM_000314.6(PTEN):c.1190A>G (p.His397Arg) http://identifiers.org/clinvar/234837 ^@ NM_000059.3(BRCA2):c.9353T>G (p.Met3118Arg) http://identifiers.org/clinvar/234313 ^@ NM_000138.4(FBN1):c.6355G>A (p.Val2119Met) http://identifiers.org/clinvar/234364 ^@ NM_000243.2(MEFV):c.1886dupT (p.Pro630Alafs) http://identifiers.org/clinvar/234636 ^@ NM_004360.4(CDH1):c.2076_2077delTG (p.Gly693Argfs) http://identifiers.org/clinvar/234535 ^@ NM_004655.3(AXIN2):c.-117+6G>T http://identifiers.org/clinvar/232009 ^@ NM_003000.2(SDHB):c.442delG (p.Ala148Hisfs) http://identifiers.org/clinvar/233751 ^@ NM_001128425.1(MUTYH):c.383A>G (p.Tyr128Cys) http://identifiers.org/clinvar/231509 ^@ NM_000465.3(BARD1):c.1922G>A (p.Arg641Gln) http://identifiers.org/clinvar/233952 ^@ NM_000465.3(BARD1):c.1754T>G (p.Leu585Arg) http://identifiers.org/clinvar/231609 ^@ NM_000465.3(BARD1):c.31_45dupCAGCCGAGGATCCGC (p.Arg15_Ser16insGlnProArgIleArg) http://identifiers.org/clinvar/229770 ^@ NM_000251.2(MSH2):c.2260A>T (p.Thr754Ser) http://identifiers.org/clinvar/231359 ^@ NM_000179.2(MSH6):c.1047A>G (p.Gln349=) http://identifiers.org/clinvar/234202 ^@ NM_000179.2(MSH6):c.1887T>C (p.Asp629=) http://identifiers.org/clinvar/232409 ^@ NM_000249.3(MLH1):c.1227G>C (p.Gln409His) http://identifiers.org/clinvar/264551 ^@ NM_002230.2(JUP):c.1333G>C (p.Ala445Pro) http://identifiers.org/clinvar/263392 ^@ NM_000071.2(CBS):c.1644G>C (p.Arg548=) http://identifiers.org/clinvar/264716 ^@ NM_001242896.1(DEPDC5):c.435G>A (p.Trp145Ter) http://identifiers.org/clinvar/264771 ^@ NM_198525.2(KIF7):c.3179A>G (p.Asn1060Ser) http://identifiers.org/clinvar/264871 ^@ NM_000059.3(BRCA2):c.426-261T>A http://identifiers.org/clinvar/264921 ^@ NM_000059.3(BRCA2):c.6841+1091_6841+1092del http://identifiers.org/clinvar/264821 ^@ NM_007294.3(BRCA1):c.4485-413_4485-400del http://identifiers.org/clinvar/349400 ^@ NM_000283.3(PDE6B):c.*12A>G http://identifiers.org/clinvar/266015 ^@ NM_000263.3(NAGLU):c.480delT (p.Asn160Lysfs) http://identifiers.org/clinvar/266642 ^@ NM_000059.3(BRCA2):c.1528_1529delGA (p.Glu510Ilefs) http://identifiers.org/clinvar/266692 ^@ NM_000059.3(BRCA2):c.2269A>T (p.Lys757Ter) http://identifiers.org/clinvar/266742 ^@ NM_000059.3(BRCA2):c.3248dupA (p.Asn1083Lysfs) http://identifiers.org/clinvar/266792 ^@ NM_000059.3(BRCA2):c.4124delA (p.Glu1375Glyfs) http://identifiers.org/clinvar/266842 ^@ NM_000059.3(BRCA2):c.4985C>G (p.Ser1662Ter) http://identifiers.org/clinvar/266892 ^@ NM_000059.3(BRCA2):c.5701_5714delGAGGATATTCTTCA (p.Glu1901Terfs) http://identifiers.org/clinvar/266942 ^@ NM_000059.3(BRCA2):c.6372_6373dupAA (p.Thr2125Lysfs) http://identifiers.org/clinvar/266992 ^@ NM_000059.3(BRCA2):c.7210A>T (p.Lys2404Ter) http://identifiers.org/clinvar/267042 ^@ NM_000059.3(BRCA2):c.7911_7912insGAAA (p.Phe2638Glufs) http://identifiers.org/clinvar/267092 ^@ NM_000059.3(BRCA2):c.8513T>A (p.Leu2838Ter) http://identifiers.org/clinvar/267142 ^@ NM_000059.3(BRCA2):c.9139C>T (p.Gln3047Ter) http://identifiers.org/clinvar/266542 ^@ NM_007294.3(BRCA1):c.5299delT (p.Cys1767Valfs) http://identifiers.org/clinvar/266492 ^@ NM_007294.3(BRCA1):c.4700_4710delGAATCAGCCTCinsA (p.Gly1567Aspfs) http://identifiers.org/clinvar/266592 ^@ NM_007294.3(BRCA1):c.925A>T (p.Lys309Ter) http://identifiers.org/clinvar/267205 ^@ NM_001415.3(EIF2S3):c.665T>C (p.Ile222Thr) http://identifiers.org/clinvar/267265 ^@ NM_001009944.2(PKD1):c.11900_11925del26insAAGCTAGTGA (p.Val3967Glufs) http://identifiers.org/clinvar/267344 ^@ NM_000535.6(PMS2):c.2276-?_2445+?del http://identifiers.org/clinvar/267413 ^@ NM_017780.3(CHD7):c.295G>C (p.Ala99Pro) http://identifiers.org/clinvar/267699 ^@ NM_000059.3(BRCA2):c.8488-?_8632+?dup http://identifiers.org/clinvar/267649 ^@ NM_000059.3(BRCA2):c.516+1G>T http://identifiers.org/clinvar/267549 ^@ NM_007294.3(BRCA1):c.4485-?_4675+?dup http://identifiers.org/clinvar/267599 ^@ NM_007294.3(BRCA1):c.5333-198_5387del http://identifiers.org/clinvar/267499 ^@ NM_007294.3(BRCA1):c.134+1G>A http://identifiers.org/clinvar/267778 ^@ NM_006087.3(TUBB4A):c.731G>A (p.G244D) http://identifiers.org/clinvar/267829 ^@ 46;XX;t(5;10)(p13.3;q21.1)dn http://identifiers.org/clinvar/267879 ^@ 46;XY;inv(1)(p11q21)dn http://identifiers.org/clinvar/267929 ^@ 46;XY;t(10;14)(p13;q32.1)dn http://identifiers.org/clinvar/267979 ^@ 46;XX;t(7;18)(p15;q21.1) http://identifiers.org/clinvar/268029 ^@ 46;XY;t(5;19)(q33;p13.1)dn http://identifiers.org/clinvar/280845 ^@ NM_024408.3(NOTCH2):c.6659C>G (p.Ser2220Ter) http://identifiers.org/clinvar/290921 ^@ NM_015295.2(SMCHD1):c.1191C>T (p.Asp397=) http://identifiers.org/clinvar/290971 ^@ NM_005603.4(ATP8B1):c.134A>C (p.Asn45Thr) http://identifiers.org/clinvar/291021 ^@ NM_025193.3(HSD3B7):c.329G>A (p.Arg110Gln) http://identifiers.org/clinvar/291071 ^@ NM_003494.3(DYSF):c.5668-8C>T http://identifiers.org/clinvar/291121 ^@ NM_004006.2(DMD):c.1523A>G (p.Asn508Ser) http://identifiers.org/clinvar/291172 ^@ NM_058246.3(DNAJB6):c.620+9G>A http://identifiers.org/clinvar/291222 ^@ NM_012210.3(TRIM32):c.509T>A (p.Leu170Ter) http://identifiers.org/clinvar/291387 ^@ NM_001918.3(DBT):c.*8226G>T http://identifiers.org/clinvar/291437 ^@ NM_001918.3(DBT):c.*1917C>A http://identifiers.org/clinvar/291487 ^@ NM_001854.3(COL11A1):c.*508G>A http://identifiers.org/clinvar/291537 ^@ NM_001854.3(COL11A1):c.1180A>G (p.Thr394Ala) http://identifiers.org/clinvar/291587 ^@ NM_015074.3(KIF1B):c.*277_*280dupCACA http://identifiers.org/clinvar/291779 ^@ NM_006610.3(MASP2):c.1617T>C (p.Asn539=) http://identifiers.org/clinvar/291729 ^@ NM_007375.3(TARDBP):c.-117G>A http://identifiers.org/clinvar/291829 ^@ NM_003051.3(SLC16A1):c.*1801A>G http://identifiers.org/clinvar/335834 ^@ NM_014946.3(SPAST):c.1005-5C>A http://identifiers.org/clinvar/336284 ^@ NM_001430.4(EPAS1):c.*90C>T http://identifiers.org/clinvar/336334 ^@ NM_139279.5(MCFD2):c.*2780_*2781delTG http://identifiers.org/clinvar/336391 ^@ NM_139279.5(MCFD2):c.-95delC http://identifiers.org/clinvar/344520 ^@ NM_015560.2(OPA1):c.*2909A>T http://identifiers.org/clinvar/336084 ^@ NM_022437.2(ABCG8):c.1568C>T (p.Pro523Leu) http://identifiers.org/clinvar/336691 ^@ NM_002618.3(PEX13):c.*1564C>G http://identifiers.org/clinvar/336441 ^@ NM_000179.2(MSH6):c.997A>G (p.Thr333Ala) http://identifiers.org/clinvar/345070 ^@ NM_198056.2(SCN5A):c.*1701G>T http://identifiers.org/clinvar/336891 ^@ NM_001002755.2(NFU1):c.299C>G (p.Ala100Gly) http://identifiers.org/clinvar/345120 ^@ NM_198056.2(SCN5A):c.3228+6C>G http://identifiers.org/clinvar/336541 ^@ NM_001135659.2(NRXN1):c.4180A>T (p.Thr1394Ser) http://identifiers.org/clinvar/345220 ^@ NM_016006.4(ABHD5):c.640C>A (p.Leu214Ile) http://identifiers.org/clinvar/336941 ^@ NM_032601.3(MCEE):c.-36C>G http://identifiers.org/clinvar/336741 ^@ NM_032180.2(FAM161A):c.717G>A (p.Pro239=) http://identifiers.org/clinvar/336991 ^@ NM_003124.4(SPR):c.380A>G (p.Asn127Ser) http://identifiers.org/clinvar/345420 ^@ NM_020208.3(SLC6A20):c.417T>C (p.Cys139=) http://identifiers.org/clinvar/344620 ^@ NM_000461.4(THRB):c.*1049G>A http://identifiers.org/clinvar/337291 ^@ NM_198843.2(SFTPB):c.*1021G>A http://identifiers.org/clinvar/344870 ^@ NM_006371.4(CRTAP):c.*3511G>C http://identifiers.org/clinvar/344970 ^@ NM_001106.3(ACVR2B):c.*2758C>T http://identifiers.org/clinvar/337391 ^@ NM_004836.6(EIF2AK3):c.*635G>A http://identifiers.org/clinvar/345020 ^@ NM_001106.3(ACVR2B):c.*7379G>A http://identifiers.org/clinvar/337441 ^@ NM_144563.2(RPIA):c.*602_*604delGTT http://identifiers.org/clinvar/346309 ^@ NM_001457.3(FLNB):c.1290C>G (p.Ile430Met) http://identifiers.org/clinvar/345270 ^@ NM_016006.4(ABHD5):c.*2965C>G http://identifiers.org/clinvar/346709 ^@ NM_002942.4(ROBO2):c.3753T>C (p.Ser1251=) http://identifiers.org/clinvar/347109 ^@ NM_001059.2(TACR3):c.1188G>A (p.Arg396=) http://identifiers.org/clinvar/347209 ^@ NM_198506.4(LRIT3):c.*1108A>G http://identifiers.org/clinvar/347309 ^@ NM_001148.4(ANK2):c.1881+8C>G http://identifiers.org/clinvar/347509 ^@ NM_152618.2(BBS12):c.*248G>A http://identifiers.org/clinvar/347559 ^@ NM_031296.2(RAB33B):c.-48C>T http://identifiers.org/clinvar/346459 ^@ NM_198859.3(PRICKLE2):c.*1114C>T http://identifiers.org/clinvar/347909 ^@ NM_000824.4(GLRB):c.-182C>G http://identifiers.org/clinvar/361864 ^@ NM_004519.3(KCNQ3):c.*751_*754delCACA http://identifiers.org/clinvar/358176 ^@ NM_183050.3(BCKDHB):c.*293T>C http://identifiers.org/clinvar/358276 ^@ NM_014165.3(NDUFAF4):c.-32delG http://identifiers.org/clinvar/362214 ^@ NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) http://identifiers.org/clinvar/362464 ^@ NM_005144.4(HR):c.*303G>A http://identifiers.org/clinvar/362564 ^@ NM_003018.3(SFTPC):c.*12T>A http://identifiers.org/clinvar/359015 ^@ NM_020632.2(ATP6V0A4):c.1641G>A (p.Leu547=) http://identifiers.org/clinvar/359065 ^@ NM_018238.3(AGK):c.1052G>A (p.Arg351Gln) http://identifiers.org/clinvar/359165 ^@ NM_014141.5(CNTNAP2):c.-329A>T http://identifiers.org/clinvar/354886 ^@ NM_007214.4(SEC63):c.*256T>C http://identifiers.org/clinvar/359365 ^@ NM_016203.3(PRKAG2):c.-560C>T http://identifiers.org/clinvar/355036 ^@ NM_014845.5(FIG4):c.262C>T (p.Arg88Ter) http://identifiers.org/clinvar/359515 ^@ NM_001101426.3(ISPD):c.*2497_*2498delTA http://identifiers.org/clinvar/355237 ^@ NM_000426.3(LAMA2):c.30T>G (p.Leu10=) http://identifiers.org/clinvar/355387 ^@ NM_006208.2(ENPP1):c.*1257delC http://identifiers.org/clinvar/359765 ^@ NM_032581.3(FAM126A):c.*180G>A http://identifiers.org/clinvar/363853 ^@ NM_019098.4(CNGB3):c.*909_*910delAT http://identifiers.org/clinvar/363903 ^@ NM_002485.4(NBN):c.*790T>G http://identifiers.org/clinvar/355337 ^@ NM_006208.2(ENPP1):c.332G>A (p.Arg111His) http://identifiers.org/clinvar/359965 ^@ NM_005522.4(HOXA1):c.216T>C (p.His72=) http://identifiers.org/clinvar/360065 ^@ NM_198428.2(BBS9):c.1910C>T (p.Ser637Leu) http://identifiers.org/clinvar/364253 ^@ NM_001701.3(BAAT):c.*1475G>A http://identifiers.org/clinvar/364303 ^@ NM_000035.3(ALDOB):c.*206C>A http://identifiers.org/clinvar/355537 ^@ NM_000288.3(PEX7):c.961A>G (p.Ile321Val) http://identifiers.org/clinvar/355587 ^@ NM_003630.2(PEX3):c.*677C>T http://identifiers.org/clinvar/364353 ^@ NM_005502.3(ABCA1):c.*1327G>A http://identifiers.org/clinvar/360665 ^@ NM_000501.3(ELN):c.*238C>T http://identifiers.org/clinvar/364953 ^@ NM_002316.3(LMX1B):c.*2345G>A http://identifiers.org/clinvar/360715 ^@ NM_000941.2(POR):c.1702G>A (p.Gly568Ser) http://identifiers.org/clinvar/357026 ^@ NM_020745.3(AARS2):c.*1635_*1636insAA http://identifiers.org/clinvar/357176 ^@ NM_012120.2(CD2AP):c.1575_1577delAGA (p.Glu525del) http://identifiers.org/clinvar/357226 ^@ NM_012120.2(CD2AP):c.*2232C>T http://identifiers.org/clinvar/303345 ^@ NM_145014.2(HYLS1):c.-503G>A http://identifiers.org/clinvar/303595 ^@ NM_000890.3(KCNJ5):c.-295_-291delCACACinsGAGAGAGAGAG http://identifiers.org/clinvar/303645 ^@ NM_000890.3(KCNJ5):c.*667C>T http://identifiers.org/clinvar/311743 ^@ NM_015087.4(SPG20):c.*2123T>C http://identifiers.org/clinvar/367582 ^@ NM_000136.2(FANCC):c.*1727T>C http://identifiers.org/clinvar/311793 ^@ NM_000538.3(RFXAP):c.*33delT http://identifiers.org/clinvar/311893 ^@ NM_001127217.2(SMAD9):c.*3G>C http://identifiers.org/clinvar/311993 ^@ NM_207361.5(FREM2):c.5518C>T (p.Arg1840Trp) http://identifiers.org/clinvar/312093 ^@ NM_207361.5(FREM2):c.*4770C>T http://identifiers.org/clinvar/304045 ^@ NM_004211.4(SLC6A5):c.*122C>T http://identifiers.org/clinvar/312143 ^@ NM_020751.2(COG6):c.1340T>C (p.Met447Thr) http://identifiers.org/clinvar/298517 ^@ NM_021830.4(TWNK):c.*709C>G http://identifiers.org/clinvar/312193 ^@ NM_014252.3(SLC25A15):c.*640C>T http://identifiers.org/clinvar/312243 ^@ NM_003701.3(TNFSF11):c.*264G>T http://identifiers.org/clinvar/312343 ^@ NM_000053.3(ATP7B):c.*1782C>G http://identifiers.org/clinvar/312543 ^@ NM_005708.4(GPC6):c.1088G>A (p.Arg363His) http://identifiers.org/clinvar/312693 ^@ NM_022489.3(INF2):c.1770C>T (p.Pro590=) http://identifiers.org/clinvar/312793 ^@ NM_020366.3(RPGRIP1):c.2334T>C (p.Asp778=) http://identifiers.org/clinvar/298667 ^@ NM_017649.4(CNNM2):c.*904G>C http://identifiers.org/clinvar/298717 ^@ NM_000494.3(COL17A1):c.2208C>T (p.Pro736=) http://identifiers.org/clinvar/298767 ^@ NM_005445.3(SMC3):c.1558C>A (p.Arg520Ser) http://identifiers.org/clinvar/299317 ^@ NM_001033855.2(DCLRE1C):c.915G>A (p.Val305=) http://identifiers.org/clinvar/299367 ^@ NM_001081.3(CUBN):c.10119C>A (p.Val3373=) http://identifiers.org/clinvar/305034 ^@ NM_005142.2(GIF):c.834G>C (p.Lys278Asn) http://identifiers.org/clinvar/305086 ^@ NM_001173990.2(TMEM216):c.*247C>T http://identifiers.org/clinvar/314532 ^@ NM_013382.5(POMT2):c.*1087C>T http://identifiers.org/clinvar/314782 ^@ NM_018418.4(SPATA7):c.494G>A (p.Ser165Asn) http://identifiers.org/clinvar/314832 ^@ NM_018319.3(TDP1):c.1077A>G (p.Pro359=) http://identifiers.org/clinvar/300306 ^@ NM_018055.4(NODAL):c.296delG (p.Ser99Thrfs) http://identifiers.org/clinvar/315332 ^@ NM_144599.4(NIPA1):c.*5474_*5477delAAAA http://identifiers.org/clinvar/315482 ^@ NM_002420.5(TRPM1):c.*482A>G http://identifiers.org/clinvar/315632 ^@ NM_018648.3(NOP10):c.*129G>A http://identifiers.org/clinvar/300806 ^@ NM_014000.2(VCL):c.*709delG http://identifiers.org/clinvar/300856 ^@ NM_012330.3(KAT6B):c.375C>T (p.Ser125=) http://identifiers.org/clinvar/309599 ^@ NM_000423.2(KRT2):c.1550C>G (p.Ala517Gly) http://identifiers.org/clinvar/315132 ^@ NM_139057.3(ADAMTS17):c.*2626_*2628delCCA http://identifiers.org/clinvar/309749 ^@ NM_001173467.2(SP7):c.*1366A>C http://identifiers.org/clinvar/309849 ^@ NM_000456.2(SUOX):c.*496T>C http://identifiers.org/clinvar/311493 ^@ NM_014363.5(SACS):c.*882A>C http://identifiers.org/clinvar/310249 ^@ NM_014319.4(LEMD3):c.*790G>C http://identifiers.org/clinvar/310299 ^@ NM_021150.3(GRIP1):c.2729C>T (p.Pro910Leu) http://identifiers.org/clinvar/312043 ^@ NM_207361.5(FREM2):c.*8A>G http://identifiers.org/clinvar/310854 ^@ NM_000282.3(PCCA):c.*116G>A http://identifiers.org/clinvar/312643 ^@ NM_001376.4(DYNC1H1):c.8808T>A (p.Ile2936=) http://identifiers.org/clinvar/312743 ^@ NM_000270.3(PNP):c.*506_*513delACTTGGTA http://identifiers.org/clinvar/338430 ^@ NM_000457.4(HNF4A):c.*1C>A http://identifiers.org/clinvar/338580 ^@ NM_001250.5(CD40):c.*178G>A http://identifiers.org/clinvar/311543 ^@ NM_014363.5(SACS):c.4936C>A (p.Leu1646Met) http://identifiers.org/clinvar/338730 ^@ NM_006420.2(ARFGEF2):c.*1969G>A http://identifiers.org/clinvar/338981 ^@ NM_004738.4(VAPB):c.*3805G>C http://identifiers.org/clinvar/339031 ^@ NM_001001433.2(STX16):c.-693G>A http://identifiers.org/clinvar/320674 ^@ NM_022041.3(GAN):c.*472C>G http://identifiers.org/clinvar/320724 ^@ NM_012213.2(MLYCD):c.468G>C (p.Gln156His) http://identifiers.org/clinvar/311943 ^@ NM_207361.5(FREM2):c.954C>G (p.Pro318=) http://identifiers.org/clinvar/321174 ^@ NM_000512.4(GALNS):c.*524G>C http://identifiers.org/clinvar/312293 ^@ NM_000321.2(RB1):c.2091C>G (p.Asp697Glu) http://identifiers.org/clinvar/312493 ^@ NM_052910.2(SLITRK1):c.*230T>G http://identifiers.org/clinvar/367732 ^@ NM_080632.2(UPF3B):c.-13G>C http://identifiers.org/clinvar/367832 ^@ NM_001167.3(XIAP):c.*4092G>A http://identifiers.org/clinvar/328605 ^@ NM_005535.2(IL12RB1):c.-2C>T http://identifiers.org/clinvar/328655 ^@ NM_001031726.3(C19orf12):c.*3571C>T http://identifiers.org/clinvar/328705 ^@ NM_001031726.3(C19orf12):c.*1158C>T http://identifiers.org/clinvar/327355 ^@ NM_000140.3(FECH):c.*3719C>T http://identifiers.org/clinvar/368432 ^@ NM_007137.3(ZNF81):c.*3525A>C http://identifiers.org/clinvar/327555 ^@ NM_005570.3(LMAN1):c.*1565C>T http://identifiers.org/clinvar/368532 ^@ NM_000084.4(CLCN5):c.*6240G>C http://identifiers.org/clinvar/327605 ^@ NM_133459.3(CCBE1):c.*3784_*3787delAAAA http://identifiers.org/clinvar/368732 ^@ NM_000307.4(POU3F4):c.753G>A (p.Leu251=) http://identifiers.org/clinvar/327905 ^@ NM_001130823.2(DNMT1):c.2020-10C>T http://identifiers.org/clinvar/328505 ^@ NM_000215.3(JAK3):c.2391A>G (p.Ala797=) http://identifiers.org/clinvar/338380 ^@ NM_005461.4(MAFB):c.*1592delT http://identifiers.org/clinvar/338530 ^@ NM_000308.3(CTSA):c.747-3C>T http://identifiers.org/clinvar/338680 ^@ NM_006420.2(ARFGEF2):c.-5G>A http://identifiers.org/clinvar/338831 ^@ NM_000782.4(CYP24A1):c.552C>T (p.Ala184=) http://identifiers.org/clinvar/339131 ^@ NM_207034.2(EDN3):c.*139delA http://identifiers.org/clinvar/339181 ^@ NM_017671.4(FERMT1):c.*1458C>T http://identifiers.org/clinvar/339231 ^@ NM_017671.4(FERMT1):c.467A>G (p.Asn156Ser) http://identifiers.org/clinvar/339281 ^@ NM_001853.3(COL9A3):c.900+11G>A http://identifiers.org/clinvar/338330 ^@ NM_015474.3(SAMHD1):c.*629C>T http://identifiers.org/clinvar/340470 ^@ NM_006031.5(PCNT):c.1236T>C (p.His412=) http://identifiers.org/clinvar/338480 ^@ NM_000457.4(HNF4A):c.*2679delC http://identifiers.org/clinvar/338630 ^@ NM_030777.3(SLC2A10):c.*2150C>A http://identifiers.org/clinvar/338781 ^@ NM_020436.4(SALL4):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/338881 ^@ NM_002591.3(PCK1):c.705C>T (p.Tyr235=) http://identifiers.org/clinvar/341071 ^@ NM_000268.3(NF2):c.903C>T (p.Ile301=) http://identifiers.org/clinvar/341121 ^@ NM_000268.3(NF2):c.*1792G>A http://identifiers.org/clinvar/341221 ^@ NM_000355.3(TCN2):c.*225A>T http://identifiers.org/clinvar/339331 ^@ NM_172107.3(KCNQ2):c.2049C>T (p.His683=) http://identifiers.org/clinvar/339431 ^@ NM_025219.2(DNAJC5):c.*3629A>G http://identifiers.org/clinvar/393250 ^@ NM_017617.4(NOTCH1):c.6358C>T (p.Arg2120Cys) http://identifiers.org/clinvar/390211 ^@ NM_006258.3(PRKG1):c.1026G>A (p.Gly342=) http://identifiers.org/clinvar/392850 ^@ NM_020822.2(KCNT1):c.1995C>T (p.Ile665=) http://identifiers.org/clinvar/390561 ^@ NM_000048.3(ASL):c.718+3G>A http://identifiers.org/clinvar/382541 ^@ NM_031418.3(ANO3):c.1088A>G (p.His363Arg) http://identifiers.org/clinvar/383993 ^@ NM_000264.3(PTCH1):c.1215+15G>T http://identifiers.org/clinvar/388772 ^@ NM_000089.3(COL1A2):c.595-20C>T http://identifiers.org/clinvar/390011 ^@ NM_000089.3(COL1A2):c.666A>G (p.Arg222=) http://identifiers.org/clinvar/385333 ^@ NM_000051.3(ATM):c.2124+6A>T http://identifiers.org/clinvar/382189 ^@ NM_000051.3(ATM):c.3138T>G (p.Leu1046=) http://identifiers.org/clinvar/389072 ^@ NM_007078.2(LDB3):c.-18G>A http://identifiers.org/clinvar/382340 ^@ NM_001909.4(CTSD):c.-30G>C http://identifiers.org/clinvar/385183 ^@ NM_003105.5(SORL1):c.4303A>T (p.Thr1435Ser) http://identifiers.org/clinvar/385283 ^@ NM_001130438.2(SPTAN1):c.4884C>T (p.Ala1628=) http://identifiers.org/clinvar/392950 ^@ NM_006755.1(TALDO1):c.586T>C (p.Trp196Arg) http://identifiers.org/clinvar/390761 ^@ NM_000155.3(GALT):c.329G>A (p.Gly110Glu) http://identifiers.org/clinvar/382941 ^@ NM_032634.3(PIGO):c.1473G>C (p.Leu491=) http://identifiers.org/clinvar/389172 ^@ NM_006231.3(POLE):c.1795-13G>A http://identifiers.org/clinvar/381989 ^@ NM_153026.2(PRICKLE1):c.915G>A (p.Thr305=) http://identifiers.org/clinvar/385233 ^@ NM_153026.2(PRICKLE1):c.2064T>C (p.Asn688=) http://identifiers.org/clinvar/390511 ^@ NM_001134363.2(RBM20):c.1338-10C>T http://identifiers.org/clinvar/378227 ^@ NM_032578.3(MYPN):c.3660-14C>T http://identifiers.org/clinvar/388372 ^@ NM_024537.3(CARS2):c.465+14C>T http://identifiers.org/clinvar/384193 ^@ NM_000059.3(BRCA2):c.222G>A (p.Leu74=) http://identifiers.org/clinvar/385533 ^@ NM_000051.3(ATM):c.2922-14T>C http://identifiers.org/clinvar/386133 ^@ NM_000051.3(ATM):c.4611+8T>C http://identifiers.org/clinvar/384243 ^@ NM_002693.2(POLG):c.-48C>T http://identifiers.org/clinvar/393150 ^@ NM_001271.3(CHD2):c.574A>G (p.Lys192Glu) http://identifiers.org/clinvar/383242 ^@ NM_000548.4(TSC2):c.-40C>T http://identifiers.org/clinvar/382991 ^@ NM_032374.4(APOPT1):c.80C>G (p.Pro27Arg) http://identifiers.org/clinvar/391161 ^@ NM_000548.4(TSC2):c.2562G>A (p.Pro854=) http://identifiers.org/clinvar/389861 ^@ NM_000548.4(TSC2):c.2778C>T (p.Asp926=) http://identifiers.org/clinvar/392750 ^@ NM_001482.2(GATM):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/388022 ^@ NM_000548.4(TSC2):c.4851C>T (p.Ala1617=) http://identifiers.org/clinvar/386233 ^@ NM_001042432.1(CLN3):c.207G>A (p.Ser69=) http://identifiers.org/clinvar/389022 ^@ NM_024698.5(SLC25A22):c.413-7T>C http://identifiers.org/clinvar/391211 ^@ NM_000293.2(PHKB):c.1364-10T>C http://identifiers.org/clinvar/378177 ^@ NM_016156.5(MTMR2):c.-35G>C http://identifiers.org/clinvar/389961 ^@ NM_020778.4(ALPK3):c.3631C>T (p.Arg1211Trp) http://identifiers.org/clinvar/385633 ^@ NM_016373.3(WWOX):c.517-17A>G http://identifiers.org/clinvar/390161 ^@ NM_020778.4(ALPK3):c.543C>G (p.Ala181=) http://identifiers.org/clinvar/390411 ^@ NM_004589.3(SCO1):c.702C>T (p.Val234=) http://identifiers.org/clinvar/47448 ^@ NM_133378.4(TTN):c.78041T>A (p.Ile26014Lys) http://identifiers.org/clinvar/47498 ^@ NM_133378.4(TTN):c.82883delA (p.Lys27628Argfs) http://identifiers.org/clinvar/47548 ^@ NM_133378.4(TTN):c.87374C>A (p.Ala29125Asp) http://identifiers.org/clinvar/47598 ^@ NM_133378.4(TTN):c.90590C>G (p.Ala30197Gly) http://identifiers.org/clinvar/47648 ^@ NM_133378.4(TTN):c.9461A>G (p.Lys3154Arg) http://identifiers.org/clinvar/47698 ^@ NM_133378.4(TTN):c.97926A>C (p.Gln32642His) http://identifiers.org/clinvar/47748 ^@ NM_133379.4(TTN):c.13123G>T (p.Ala4375Ser) http://identifiers.org/clinvar/47798 ^@ NM_133379.4(TTN):c.16264C>G (p.Pro5422Ala) http://identifiers.org/clinvar/47848 ^@ NM_001267550.2(TTN):c.10854A>C (p.Gln3618His) http://identifiers.org/clinvar/47898 ^@ NM_144573.3(NEXN):c.1937C>A (p.Pro646Gln) http://identifiers.org/clinvar/47948 ^@ NM_144612.6(LOXHD1):c.5864-15C>T http://identifiers.org/clinvar/47999 ^@ NM_005709.3(USH1C):c.1447G>T (p.Ala483Ser) http://identifiers.org/clinvar/48050 ^@ NM_170707.3(LMNA):c.1770C>G (p.Thr590=) http://identifiers.org/clinvar/48200 ^@ NM_194248.2(OTOF):c.2512C>T (p.Leu838=) http://identifiers.org/clinvar/48250 ^@ NM_194248.2(OTOF):c.509+11G>A http://identifiers.org/clinvar/48300 ^@ NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) http://identifiers.org/clinvar/48351 ^@ NM_206933.2(USH2A):c.10552G>A (p.Val3518Ile) http://identifiers.org/clinvar/48401 ^@ NM_206933.2(USH2A):c.12558T>C (p.Ile4186=) http://identifiers.org/clinvar/48451 ^@ NM_206933.2(USH2A):c.14960C>T (p.Ala4987Val) http://identifiers.org/clinvar/48502 ^@ NM_206933.2(USH2A):c.3435delA (p.Val1147Serfs) http://identifiers.org/clinvar/26 ^@ NM_015600.4(ABHD12):c.846_852dupTAAGAGC (p.His285Terfs) http://identifiers.org/clinvar/205 ^@ NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met) http://identifiers.org/clinvar/246 ^@ NM_000398.6(CYB5R3):c.218T>C (p.Leu73Pro) http://identifiers.org/clinvar/421 ^@ NM_000290.3(PGAM2):c.290G>A (p.Gly97Asp) http://identifiers.org/clinvar/453 ^@ NM_000097.5(CPOX):c.1210A>G (p.Lys404Glu) http://identifiers.org/clinvar/462 ^@ CPOX, 1-BP INS, NT857 http://identifiers.org/clinvar/703 ^@ NM_000512.4(GALNS):c.337A>T (p.Ile113Phe) http://identifiers.org/clinvar/726 ^@ NM_000015.2(NAT2):c.191G>A (p.Arg64Gln) http://identifiers.org/clinvar/857 ^@ NM_013319.2(UBIAD1):c.529G>C (p.Gly177Arg) http://identifiers.org/clinvar/1960 ^@ ADA, 3.25-KB DEL, ALU-RELATED http://identifiers.org/clinvar/2004 ^@ SGCG, 1-BP DEL, 525T http://identifiers.org/clinvar/2095 ^@ NM_000920.3(PC):c.2229G>T (p.Met743Ile) http://identifiers.org/clinvar/2140 ^@ NM_015384.4(NIPBL):c.7289A>G (p.Tyr2430Cys) http://identifiers.org/clinvar/2188 ^@ NM_207352.3(CYP4V2):c.332T>C (p.Ile111Thr) http://identifiers.org/clinvar/2232 ^@ NM_000551.3(VHL):c.598C>T (p.Arg200Trp) http://identifiers.org/clinvar/2278 ^@ NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) http://identifiers.org/clinvar/2323 ^@ ETHE1, EX4DEL http://identifiers.org/clinvar/2369 ^@ NM_213653.3(HFE2):c.238T>C (p.Cys80Arg) http://identifiers.org/clinvar/2414 ^@ NM_032409.2(PINK1):c.650C>A (p.Ala217Asp) http://identifiers.org/clinvar/2505 ^@ NM_012431.2(SEMA3E):c.2108C>T (p.Ser703Leu) http://identifiers.org/clinvar/2553 ^@ NM_000243.2(MEFV):c.1958G>A (p.Arg653His) http://identifiers.org/clinvar/2645 ^@ NM_000391.3(TPP1):c.1340G>A (p.Arg447His) http://identifiers.org/clinvar/2690 ^@ NM_015404.3(WHRN):c.307C>T (p.Gln103Ter) http://identifiers.org/clinvar/2737 ^@ NM_004183.3(BEST1):c.728C>T (p.Ala243Val) http://identifiers.org/clinvar/2782 ^@ NM_000158.3(GBE1):c.1571G>A (p.Arg524Gln) http://identifiers.org/clinvar/2827 ^@ NM_017890.4(VPS13B):c.8459T>C (p.Ile2820Thr) http://identifiers.org/clinvar/2872 ^@ NM_001171507.2(MCFD2):c.241G>T (p.Asp81Tyr) http://identifiers.org/clinvar/2918 ^@ NM_173477.4(USH1G):c.113G>A (p.Trp38Ter) http://identifiers.org/clinvar/2963 ^@ NM_000271.4(NPC1):c.3044_3097del54 http://identifiers.org/clinvar/3008 ^@ NM_000226.3(KRT9):c.478C>T (p.Leu160Phe) http://identifiers.org/clinvar/3057 ^@ NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) http://identifiers.org/clinvar/3102 ^@ NM_005670.3(EPM2A):c.512G>A (p.Arg171His) http://identifiers.org/clinvar/3157 ^@ MMAA, 8-BP INS, NT260 http://identifiers.org/clinvar/10176 ^@ NM_000132.3(F8):c.493C>T (p.Pro165Ser) http://identifiers.org/clinvar/10220 ^@ NM_000132.3(F8):c.1596dupG (p.Thr533Aspfs) http://identifiers.org/clinvar/10266 ^@ NM_000132.3(F8):c.5123G>A (p.Arg1708His) http://identifiers.org/clinvar/10310 ^@ NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys) http://identifiers.org/clinvar/10356 ^@ NM_007325.4(GRIA3):c.2497G>A (p.Gly833Arg) http://identifiers.org/clinvar/10405 ^@ NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) http://identifiers.org/clinvar/10454 ^@ COL4A5, CYS108SER http://identifiers.org/clinvar/10500 ^@ NM_000202.7(IDS):c.1403G>T (p.Arg468Leu) http://identifiers.org/clinvar/10547 ^@ NM_006915.2(RP2):c.453C>G (p.Tyr151Ter) http://identifiers.org/clinvar/10592 ^@ NM_000133.3(F9):c.541G>T (p.Val181Phe) http://identifiers.org/clinvar/10637 ^@ F9, EX7DEL http://identifiers.org/clinvar/10683 ^@ NM_000266.3(NDP):c.287G>A (p.Cys96Tyr) http://identifiers.org/clinvar/10728 ^@ NM_000169.2(GLA):c.484T>C (p.Trp162Arg) http://identifiers.org/clinvar/10773 ^@ GLA, 4-BP DEL, 1284ACTT http://identifiers.org/clinvar/10863 ^@ NM_001111125.2(IQSEC2):c.2402A>C (p.Gln801Pro) http://identifiers.org/clinvar/10909 ^@ SH2D1A, 163C-T http://identifiers.org/clinvar/11315 ^@ ABCD1, IVS8DS, G-A, +1 http://identifiers.org/clinvar/11361 ^@ NM_000061.2(BTK):c.718G>T (p.Glu240Ter) http://identifiers.org/clinvar/11418 ^@ NM_014009.3(FOXP3):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/11468 ^@ NM_003639.4(IKBKG):c.956G>A (p.Arg319Gln) http://identifiers.org/clinvar/11520 ^@ NM_005120.2(MED12):c.2881C>T (p.Arg961Trp) http://identifiers.org/clinvar/11570 ^@ NM_002578.4(PAK3):c.1094C>A (p.Ala365Glu) http://identifiers.org/clinvar/11620 ^@ NM_005183.3(CACNA1F):c.3472-1_3475delGCGTCinsTGG http://identifiers.org/clinvar/11670 ^@ NM_005333.4(HCCS):c.589C>T (p.Arg197Ter) http://identifiers.org/clinvar/11721 ^@ NM_000489.4(ATRX):c.4826A>G (p.His1609Arg) http://identifiers.org/clinvar/11773 ^@ NM_001110556.1(FLNA):c.629G>T (p.Cys210Phe) http://identifiers.org/clinvar/11823 ^@ NM_004992.3(MECP2):c.419C>T (p.Ala140Val) http://identifiers.org/clinvar/11873 ^@ NM_000137.2(FAH):c.786G>A (p.Trp262Ter) http://identifiers.org/clinvar/11923 ^@ NM_000203.4(IDUA):c.898G>A (p.Ala300Thr) http://identifiers.org/clinvar/11973 ^@ GCSH, COMPLEX REARRANGEMENT http://identifiers.org/clinvar/38300 ^@ NM_000151.3(G6PC):c.248G>A (p.Arg83His) http://identifiers.org/clinvar/12025 ^@ PCCA, IVS14, A-G, -1416 http://identifiers.org/clinvar/12075 ^@ NM_000131.4(F7):c.38T>C (p.Leu13Pro) http://identifiers.org/clinvar/12125 ^@ NM_000204.4(CFI):c.949C>T (p.Arg317Trp) http://identifiers.org/clinvar/12929 ^@ NM_000702.3(ATP1A2):c.193C>T (p.Arg65Trp) http://identifiers.org/clinvar/12979 ^@ NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) http://identifiers.org/clinvar/13030 ^@ NM_000539.3(RHO):c.886A>G (p.Lys296Glu) http://identifiers.org/clinvar/13082 ^@ NM_000321.2(RB1):c.1760_1769delAATCTGCTTG (p.Glu587Valfs) http://identifiers.org/clinvar/13132 ^@ NM_000536.3(RAG2):c.854T>G (p.Met285Arg) http://identifiers.org/clinvar/13336 ^@ NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) http://identifiers.org/clinvar/13441 ^@ NM_000371.3(TTR):c.205A>G (p.Thr69Ala) http://identifiers.org/clinvar/13492 ^@ NM_000217.2(KCNA1):c.677C>G (p.Thr226Arg) http://identifiers.org/clinvar/13542 ^@ CD36, HAPLOTYPE, AAGIC http://identifiers.org/clinvar/37666 ^@ NM_007294.3(BRCA1):c.5406+1G>A http://identifiers.org/clinvar/37720 ^@ NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) http://identifiers.org/clinvar/37771 ^@ NM_000059.3(BRCA2):c.1970T>A (p.Leu657Ter) http://identifiers.org/clinvar/37824 ^@ NM_000059.3(BRCA2):c.3160_3163delGATA (p.Asp1054Ilefs) http://identifiers.org/clinvar/37876 ^@ NM_000059.3(BRCA2):c.407delA (p.Asn136Ilefs) http://identifiers.org/clinvar/37929 ^@ NM_000059.3(BRCA2):c.4876_4877delAA (p.Asn1626Serfs) http://identifiers.org/clinvar/37983 ^@ NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) http://identifiers.org/clinvar/38035 ^@ NM_000059.3(BRCA2):c.631G>C (p.Val211Leu) http://identifiers.org/clinvar/38088 ^@ NM_000059.3(BRCA2):c.7235C>T (p.Thr2412Ile) http://identifiers.org/clinvar/38138 ^@ NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) http://identifiers.org/clinvar/38188 ^@ NM_000059.3(BRCA2):c.8866G>C (p.Glu2956Gln) http://identifiers.org/clinvar/38238 ^@ NM_000059.3(BRCA2):c.938C>T (p.Ser313Phe) http://identifiers.org/clinvar/242682 ^@ NM_000171.3(GLRA1):c.1030C>T (p.Arg344Ter) http://identifiers.org/clinvar/38355 ^@ NM_002437.4(MPV17):c.293C>T (p.Pro98Leu) http://identifiers.org/clinvar/38412 ^@ NM_024312.4(GNPTAB):c.118-2A>G http://identifiers.org/clinvar/38554 ^@ NM_000155.3(GALT):c.904+1G>T http://identifiers.org/clinvar/38740 ^@ NM_005359.5(SMAD4):c.1447+1G>A http://identifiers.org/clinvar/38790 ^@ NM_003060.3(SLC22A5):c.254_264dupGGCTCGCCACC (p.Ile89Glyfs) http://identifiers.org/clinvar/38914 ^@ NM_001079.3(ZAP70):c.239C>A (p.Pro80Gln) http://identifiers.org/clinvar/38964 ^@ NM_002473.5(MYH9):c.2900T>A (p.Val967Glu) http://identifiers.org/clinvar/39016 ^@ NM_016938.4(EFEMP2):c.800G>A (p.Cys267Tyr) http://identifiers.org/clinvar/39066 ^@ NM_024312.4(GNPTAB):c.3160C>G (p.Leu1054Val) http://identifiers.org/clinvar/39123 ^@ NM_198253.2(TERT):c.*5_*181del177 http://identifiers.org/clinvar/39173 ^@ NM_198578.3(LRRK2):c.3784C>G (p.Pro1262Ala) http://identifiers.org/clinvar/39223 ^@ NM_198578.3(LRRK2):c.632C>T (p.Ala211Val) http://identifiers.org/clinvar/39274 ^@ NM_207352.3(CYP4V2):c.974C>T (p.Thr325Ile) http://identifiers.org/clinvar/39436 ^@ A4GALT, 42C-T http://identifiers.org/clinvar/40504 ^@ NM_002834.4(PTPN11):c.244A>G (p.Met82Val) http://identifiers.org/clinvar/40560 ^@ NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) http://identifiers.org/clinvar/40625 ^@ NM_002880.3(RAF1):c.1669-13T>C http://identifiers.org/clinvar/40702 ^@ NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) http://identifiers.org/clinvar/40789 ^@ NM_030662.3(MAP2K2):c.303+18G>A http://identifiers.org/clinvar/40987 ^@ NM_000095.2(COMP):c.1156A>G (p.Asn386Asp) http://identifiers.org/clinvar/41046 ^@ NM_002734.4(PRKAR1A):c.349-5dupT http://identifiers.org/clinvar/41101 ^@ NM_003611.2(OFD1):c.243C>G (p.His81Gln) http://identifiers.org/clinvar/41209 ^@ NM_003977.3(AIP):c.807C>T (p.Phe269=) http://identifiers.org/clinvar/51271 ^@ NM_000059.3(BRCA2):c.2337G>T (p.Leu779=) http://identifiers.org/clinvar/51322 ^@ NM_000059.3(BRCA2):c.2653_2656delGACA (p.Asp885Metfs) http://identifiers.org/clinvar/51372 ^@ NM_000059.3(BRCA2):c.2926_2927delTCinsAT (p.Ser976Ile) http://identifiers.org/clinvar/51422 ^@ NM_000059.3(BRCA2):c.3202delG (p.Val1068Tyrfs) http://identifiers.org/clinvar/51474 ^@ NM_000059.3(BRCA2):c.3487delG (p.Asp1163Ilefs) http://identifiers.org/clinvar/51525 ^@ NM_000059.3(BRCA2):c.3785C>G (p.Ser1262Ter) http://identifiers.org/clinvar/51577 ^@ NM_000059.3(BRCA2):c.3967A>T (p.Lys1323Ter) http://identifiers.org/clinvar/51629 ^@ NM_000059.3(BRCA2):c.4314delC (p.Ala1439Profs) http://identifiers.org/clinvar/51679 ^@ NM_000059.3(BRCA2):c.4589A>G (p.Lys1530Arg) http://identifiers.org/clinvar/51731 ^@ NM_000059.3(BRCA2):c.4889C>A (p.Ser1630Ter) http://identifiers.org/clinvar/51783 ^@ NM_000059.3(BRCA2):c.516+10C>T http://identifiers.org/clinvar/51834 ^@ NM_000059.3(BRCA2):c.5282G>A (p.Gly1761Glu) http://identifiers.org/clinvar/51887 ^@ NM_000059.3(BRCA2):c.5596T>C (p.Phe1866Leu) http://identifiers.org/clinvar/51939 ^@ NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter) http://identifiers.org/clinvar/51991 ^@ NM_000059.3(BRCA2):c.6029T>G (p.Val2010Gly) http://identifiers.org/clinvar/52042 ^@ NM_000059.3(BRCA2):c.6268_6269delCA (p.His2090Terfs) http://identifiers.org/clinvar/52095 ^@ NM_000059.3(BRCA2):c.6437_6440delATCA (p.Asn2146Thrfs) http://identifiers.org/clinvar/52147 ^@ NM_000059.3(BRCA2):c.664C>T (p.Pro222Ser) http://identifiers.org/clinvar/52197 ^@ NM_000059.3(BRCA2):c.6816_6817delAA (p.Gly2274Argfs) http://identifiers.org/clinvar/52248 ^@ NM_000059.3(BRCA2):c.7010C>T (p.Thr2337Ile) http://identifiers.org/clinvar/52299 ^@ NM_000059.3(BRCA2):c.7252A>G (p.Arg2418Gly) http://identifiers.org/clinvar/52349 ^@ NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) http://identifiers.org/clinvar/52400 ^@ NM_000059.3(BRCA2):c.7753G>A (p.Gly2585Arg) http://identifiers.org/clinvar/52450 ^@ NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) http://identifiers.org/clinvar/52500 ^@ NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu) http://identifiers.org/clinvar/52551 ^@ NM_000059.3(BRCA2):c.8331+70A>C http://identifiers.org/clinvar/52601 ^@ NM_000059.3(BRCA2):c.8486A>T (p.Gln2829Leu) http://identifiers.org/clinvar/52653 ^@ NM_000059.3(BRCA2):c.8663G>T (p.Arg2888Leu) http://identifiers.org/clinvar/52703 ^@ NM_000059.3(BRCA2):c.8924delT (p.Val2975Glufs) http://identifiers.org/clinvar/53158 ^@ NM_000492.3(CFTR):c.-9_14del23 http://identifiers.org/clinvar/54118 ^@ NM_007294.3(BRCA1):c.1076C>T (p.Pro359Leu) http://identifiers.org/clinvar/54168 ^@ NM_007294.3(BRCA1):c.1231G>A (p.Asp411Asn) http://identifiers.org/clinvar/54218 ^@ NM_007294.3(BRCA1):c.1352C>G (p.Ser451Ter) http://identifiers.org/clinvar/54268 ^@ NM_007294.3(BRCA1):c.1492delC (p.Leu498Serfs) http://identifiers.org/clinvar/54319 ^@ NM_007294.3(BRCA1):c.1655G>T (p.Gly552Val) http://identifiers.org/clinvar/54370 ^@ NM_007294.3(BRCA1):c.1846dupT (p.Ser616Phefs) http://identifiers.org/clinvar/54420 ^@ NM_007294.3(BRCA1):c.1963dupT (p.Tyr655Leufs) http://identifiers.org/clinvar/54470 ^@ NM_007294.3(BRCA1):c.2126_2127delTT (p.Phe709Tyrfs) http://identifiers.org/clinvar/54520 ^@ NM_007294.3(BRCA1):c.2282A>C (p.Glu761Ala) http://identifiers.org/clinvar/54570 ^@ NM_007294.3(BRCA1):c.2437G>T (p.Gly813Ter) http://identifiers.org/clinvar/54620 ^@ NM_007294.3(BRCA1):c.2612delCinsTT (p.Pro871Leufs) http://identifiers.org/clinvar/54670 ^@ NM_007294.3(BRCA1):c.2749dupA (p.Ile917Asnfs) http://identifiers.org/clinvar/54720 ^@ NM_007294.3(BRCA1):c.2921T>C (p.Leu974Ser) http://identifiers.org/clinvar/54770 ^@ NM_007294.3(BRCA1):c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer) http://identifiers.org/clinvar/54820 ^@ NM_007294.3(BRCA1):c.3287A>G (p.Gln1096Arg) http://identifiers.org/clinvar/54870 ^@ NM_007294.3(BRCA1):c.340T>C (p.Ser114Pro) http://identifiers.org/clinvar/54920 ^@ NM_007294.3(BRCA1):c.3578dupT (p.Thr1194Hisfs) http://identifiers.org/clinvar/54972 ^@ NM_007294.3(BRCA1):c.3710delT (p.Ile1237Asnfs) http://identifiers.org/clinvar/55023 ^@ NM_007294.3(BRCA1):c.3841_3842delCA (p.Gln1281Glyfs) http://identifiers.org/clinvar/55073 ^@ NM_007294.3(BRCA1):c.4001delG (p.Gly1334Valfs) http://identifiers.org/clinvar/55124 ^@ NM_007294.3(BRCA1):c.4182_4183dupTC (p.Gln1395Leufs) http://identifiers.org/clinvar/55175 ^@ NM_007294.3(BRCA1):c.4343G>C (p.Ser1448Thr) http://identifiers.org/clinvar/55226 ^@ NM_007294.3(BRCA1):c.4552C>T (p.Gln1518Ter) http://identifiers.org/clinvar/55276 ^@ NM_007294.3(BRCA1):c.4741G>T (p.Glu1581Ter) http://identifiers.org/clinvar/55327 ^@ NM_007294.3(BRCA1):c.4945_4947delAGAinsTTTT (p.Arg1649Phefs) http://identifiers.org/clinvar/55377 ^@ NM_007294.3(BRCA1):c.5075-1G>A http://identifiers.org/clinvar/55427 ^@ NM_007294.3(BRCA1):c.5152+5G>A http://identifiers.org/clinvar/55477 ^@ NM_007294.3(BRCA1):c.5243delG (p.Gly1748Valfs) http://identifiers.org/clinvar/56190 ^@ NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) http://identifiers.org/clinvar/56240 ^@ NM_000481.3(AMT):c.970_972delATG (p.Met324del) http://identifiers.org/clinvar/56291 ^@ NM_001042432.1(CLN3):c.906+5G>A http://identifiers.org/clinvar/56343 ^@ NM_001081.3(CUBN):c.889C>T (p.Gln297Ter) http://identifiers.org/clinvar/56394 ^@ NM_003332.3(TYROBP):c.116G>A (p.Ser39Asn) http://identifiers.org/clinvar/56445 ^@ NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) http://identifiers.org/clinvar/56495 ^@ NM_004646.3(NPHS1):c.320C>T (p.Ala107Val) http://identifiers.org/clinvar/56546 ^@ NM_006493.2(CLN5):c.919delA (p.Arg307Glufs) http://identifiers.org/clinvar/56704 ^@ NM_018941.3(CLN8):c.209G>A (p.Arg70His) http://identifiers.org/clinvar/56754 ^@ NM_030943.3(AMN):c.468dupT (p.Gly157Trpfs) http://identifiers.org/clinvar/56831 ^@ NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) http://identifiers.org/clinvar/57014 ^@ GRCh38/hg38 1p13.2(chr1:112687324-113216458)x3 http://identifiers.org/clinvar/57067 ^@ GRCh38/hg38 Xp11.23(chrX:47820327-48344725)x2 http://identifiers.org/clinvar/57123 ^@ GRCh38/hg38 18q21.2-21.31(chr18:55859488-56865425)x1 http://identifiers.org/clinvar/57174 ^@ GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3 http://identifiers.org/clinvar/57226 ^@ GRCh38/hg38 15q14(chr15:34995451-39735062)x1 http://identifiers.org/clinvar/57279 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46061206)x1 http://identifiers.org/clinvar/57332 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 http://identifiers.org/clinvar/57385 ^@ GRCh38/hg38 2p12-11.2(chr2:81818969-83448173)x3 http://identifiers.org/clinvar/103001 ^@ NM_000246.3(CIITA):c.2816+188T>G http://identifiers.org/clinvar/103051 ^@ NM_001174081.2(NLRP2):c.1842G>A (p.Glu614=) http://identifiers.org/clinvar/103101 ^@ NM_006092.2(NOD1):c.2285+90G>A http://identifiers.org/clinvar/103151 ^@ NM_032206.4(NLRC5):c.*245C>T http://identifiers.org/clinvar/103201 ^@ NM_032206.4(NLRC5):c.4919+131G>A http://identifiers.org/clinvar/103251 ^@ NM_138329.2(NLRP6):c.311-15C>A http://identifiers.org/clinvar/103301 ^@ NM_153447.4(NLRP5):c.679+313G>T http://identifiers.org/clinvar/103351 ^@ NM_176822.3(NLRP14):c.3146+24G>C http://identifiers.org/clinvar/111225 ^@ NM_000619.2(IFNG):c.366+350A>T http://identifiers.org/clinvar/111275 ^@ NM_000895.2(LTA4H):c.*640C>A http://identifiers.org/clinvar/120237 ^@ NM_017637.5(BNC2):c.2739C>T (p.Arg913=) http://identifiers.org/clinvar/120287 ^@ NM_000277.1(PAH):c.812A>T (p.His271Leu) http://identifiers.org/clinvar/125444 ^@ NM_001080442.2(SLC38A8):c.1002delG (p.Ser336Alafs) http://identifiers.org/clinvar/125511 ^@ NM_007294.3(BRCA1):c.70_71insA (p.Cys24Terfs) http://identifiers.org/clinvar/125590 ^@ NM_007294.3(BRCA1):c.2799delT (p.Gln934Argfs) http://identifiers.org/clinvar/125667 ^@ NM_007294.3(BRCA1):c.302-1G>T http://identifiers.org/clinvar/125993 ^@ NM_000059.3(BRCA2):c.71_96del26 (p.Leu24Terfs) http://identifiers.org/clinvar/126059 ^@ NM_000059.3(BRCA2):c.5074_5075insA (p.Trp1692Terfs) http://identifiers.org/clinvar/126132 ^@ NM_000059.3(BRCA2):c.7235_7236insG (p.Lys2413Terfs) http://identifiers.org/clinvar/126190 ^@ NM_000059.3(BRCA2):c.8755-66T>C http://identifiers.org/clinvar/126250 ^@ NM_025114.3(CEP290):c.2368-37T>G http://identifiers.org/clinvar/127234 ^@ NM_022166.3(XYLT1):c.1441C>T (p.Arg481Trp) http://identifiers.org/clinvar/127288 ^@ NM_000038.5(APC):c.3378C>G (p.Ser1126Arg) http://identifiers.org/clinvar/127338 ^@ NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) http://identifiers.org/clinvar/127388 ^@ NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) http://identifiers.org/clinvar/127438 ^@ NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) http://identifiers.org/clinvar/127489 ^@ NM_000057.3(BLM):c.2638G>C (p.Glu880Gln) http://identifiers.org/clinvar/127539 ^@ NM_000136.2(FANCC):c.345+6A>T http://identifiers.org/clinvar/127589 ^@ NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) http://identifiers.org/clinvar/127640 ^@ NM_000251.2(MSH2):c.2798C>T (p.Thr933Ile) http://identifiers.org/clinvar/127699 ^@ NM_000455.4(STK11):c.1189G>T (p.Ala397Ser) http://identifiers.org/clinvar/127749 ^@ NM_000465.3(BARD1):c.841C>T (p.Pro281Ser) http://identifiers.org/clinvar/127800 ^@ NM_000535.6(PMS2):c.884G>A (p.Arg295Gln) http://identifiers.org/clinvar/159478 ^@ NM_002547.2(OPHN1):c.702+11A>C http://identifiers.org/clinvar/161386 ^@ NM_003000.2(SDHB):c.79C>G (p.Arg27Gly) http://identifiers.org/clinvar/161455 ^@ NM_005101.3(ISG15):c.339dupG (p.Leu114Alafs) http://identifiers.org/clinvar/161855 ^@ NM_199193.2(BRE):c.626A>G (p.Asp209Gly) http://identifiers.org/clinvar/161505 ^@ NM_001040876.1(ABCE1):c.708T>G (p.Asp236Glu) http://identifiers.org/clinvar/161805 ^@ NM_138982.3(MAPK10):c.1271G>A (p.Ser424Asn) http://identifiers.org/clinvar/161555 ^@ NM_001184789.1(PARD3):c.572G>T (p.Cys191Phe) http://identifiers.org/clinvar/161605 ^@ NM_003041.3(SLC5A2):c.395G>A (p.Arg132His) http://identifiers.org/clinvar/161705 ^@ NM_016835.4(MAPT):c.834G>C (p.Glu278Asp) http://identifiers.org/clinvar/161655 ^@ NM_007067.4(KAT7):c.1687C>T (p.Gln563Ter) http://identifiers.org/clinvar/161755 ^@ NM_022080.2(NAPB):c.786+2T>C http://identifiers.org/clinvar/242631 ^@ NM_017909.3(RMND1):c.613G>T (p.Asp205Tyr) http://identifiers.org/clinvar/162034 ^@ NM_000663.4(ABAT):c.631C>T (p.Leu211Phe) http://identifiers.org/clinvar/162090 ^@ NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) http://identifiers.org/clinvar/162154 ^@ NM_001396.3(DYRK1A):c.621_624delTGAGinsGAA (p.Glu208Asnfs) http://identifiers.org/clinvar/162217 ^@ NM_198271.4(LMOD3):c.1201C>T (p.Arg401Ter) http://identifiers.org/clinvar/162428 ^@ NG_007386.2:g.72916_78773del5858 http://identifiers.org/clinvar/162499 ^@ NM_000527.4(LDLR):c.1359-1G>A http://identifiers.org/clinvar/162576 ^@ NM_000426.3(LAMA2):c.3532G>A (p.Ala1178Thr) http://identifiers.org/clinvar/180034 ^@ NM_013296.4(GPSM2):c.459_460delTG (p.Ala154Glnfs) http://identifiers.org/clinvar/179884 ^@ NM_133378.4(TTN):c.77945T>A (p.Val25982Asp) http://identifiers.org/clinvar/163493 ^@ NM_201557.3(FHL2):c.156+2T>C http://identifiers.org/clinvar/180084 ^@ NM_206933.2(USH2A):c.11440G>T (p.Gly3814Ter) http://identifiers.org/clinvar/179834 ^@ NM_133378.4(TTN):c.91762C>A (p.His30588Asn) http://identifiers.org/clinvar/179734 ^@ NM_133378.4(TTN):c.89968C>T (p.Arg29990Trp) http://identifiers.org/clinvar/179784 ^@ NM_198253.2(TERT):c.2708C>T (p.Thr903Ile) http://identifiers.org/clinvar/163135 ^@ NM_001369.2(DNAH5):c.10545A>G (p.Lys3515=) http://identifiers.org/clinvar/162827 ^@ NM_033337.2(CAV3):c.40G>A (p.Val14Ile) http://identifiers.org/clinvar/179934 ^@ NM_000441.1(SLC26A4):c.1707+6T>C http://identifiers.org/clinvar/198421 ^@ NM_000430.3(PAFAH1B1):c.569-4T>G http://identifiers.org/clinvar/198471 ^@ NM_001844.4(COL2A1):c.504C>A (p.Gly168=) http://identifiers.org/clinvar/198525 ^@ NM_005045.3(RELN):c.670A>C (p.Asn224His) http://identifiers.org/clinvar/198576 ^@ NM_018451.4(CENPJ):c.1834C>T (p.Arg612Trp) http://identifiers.org/clinvar/198628 ^@ NM_173660.4(DOK7):c.1305C>A (p.Gly435=) http://identifiers.org/clinvar/198679 ^@ NM_004543.4(NEB):c.11714A>G (p.Tyr3905Cys) http://identifiers.org/clinvar/198733 ^@ NM_000487.5(ARSA):c.1334G>T (p.Gly445Val) http://identifiers.org/clinvar/198786 ^@ NM_003491.3(NAA10):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/198839 ^@ NM_006182.2(DDR2):c.720C>T (p.Asp240=) http://identifiers.org/clinvar/198893 ^@ NM_020549.4(CHAT):c.1248C>T (p.Asn416=) http://identifiers.org/clinvar/198946 ^@ NM_001080463.1(DYNC2H1):c.11702C>G (p.Ser3901Ter) http://identifiers.org/clinvar/198997 ^@ NM_000203.4(IDUA):c.1190-17_1190-16insA http://identifiers.org/clinvar/199048 ^@ NM_001023570.3(IQCB1):c.826C>G (p.Gln276Glu) http://identifiers.org/clinvar/199101 ^@ NM_001031681.2(CTNS):c.612C>T (p.Asn204=) http://identifiers.org/clinvar/199153 ^@ NM_018328.4(MBD5):c.980T>C (p.Met327Thr) http://identifiers.org/clinvar/199204 ^@ NM_000540.2(RYR1):c.12612G>A (p.Trp4204Ter) http://identifiers.org/clinvar/199260 ^@ NM_004946.2(DOCK2):c.3310C>T (p.Arg1104Trp) http://identifiers.org/clinvar/201246 ^@ NM_001035.2(RYR2):c.4503C>A (p.Asn1501Lys) http://identifiers.org/clinvar/201300 ^@ NM_001035.2(RYR2):c.10488T>G (p.Phe3496Leu) http://identifiers.org/clinvar/201357 ^@ NM_001035.2(RYR2):c.14311G>A (p.Val4771Ile) http://identifiers.org/clinvar/199708 ^@ NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) http://identifiers.org/clinvar/201468 ^@ NM_198056.2(SCN5A):c.2047T>C (p.Cys683Arg) http://identifiers.org/clinvar/201414 ^@ NM_198056.2(SCN5A):c.857C>T (p.Ala286Val) http://identifiers.org/clinvar/199873 ^@ NM_004415.3(DSP):c.2644G>T (p.Glu882Ter) http://identifiers.org/clinvar/199930 ^@ NM_004415.3(DSP):c.8529_8540delTGGGTCCCGGAG (p.Ser2843_Arg2846del) http://identifiers.org/clinvar/199988 ^@ NM_000138.4(FBN1):c.2126C>G (p.Ala709Gly) http://identifiers.org/clinvar/199763 ^@ NM_024422.4(DSC2):c.745A>C (p.Thr249Pro) http://identifiers.org/clinvar/199819 ^@ NM_001943.4(DSG2):c.2780C>T (p.Pro927Leu) http://identifiers.org/clinvar/201641 ^@ NM_001103.3(ACTN2):c.1723A>C (p.Ile575Leu) http://identifiers.org/clinvar/201915 ^@ NM_144573.3(NEXN):c.242A>T (p.Asp81Val) http://identifiers.org/clinvar/202087 ^@ NM_000337.5(SGCD):c.160A>G (p.Ile54Val) http://identifiers.org/clinvar/202144 ^@ NM_014000.2(VCL):c.2023-20A>G http://identifiers.org/clinvar/201860 ^@ NM_007078.2(LDB3):c.690-4802C>A http://identifiers.org/clinvar/201696 ^@ NM_003476.4(CSRP3):c.508G>T (p.Val170Phe) http://identifiers.org/clinvar/201968 ^@ NM_004572.3(PKP2):c.2537C>A (p.Ser846Tyr) http://identifiers.org/clinvar/202030 ^@ NM_004572.3(PKP2):c.1171-2A>G http://identifiers.org/clinvar/201806 ^@ NM_002230.2(JUP):c.71C>T (p.Ser24Leu) http://identifiers.org/clinvar/201751 ^@ NM_004006.2(DMD):c.5675G>A (p.Cys1892Tyr) http://identifiers.org/clinvar/242580 ^@ NM_024306.4(FA2H):c.150_159dupGCGGGCCAGG (p.Asp57Glyfs) http://identifiers.org/clinvar/203092 ^@ NM_001256850.1(TTN):c.100180G>T (p.Asp33394Tyr) http://identifiers.org/clinvar/203042 ^@ NM_001256850.1(TTN):c.94001A>T (p.Gln31334Leu) http://identifiers.org/clinvar/202427 ^@ NM_001256850.1(TTN):c.93176-3C>A http://identifiers.org/clinvar/202992 ^@ NM_001256850.1(TTN):c.88207G>A (p.Gly29403Ser) http://identifiers.org/clinvar/202942 ^@ NM_001256850.1(TTN):c.82688C>G (p.Thr27563Arg) http://identifiers.org/clinvar/202541 ^@ NM_001256850.1(TTN):c.76279delT (p.Tyr25427Ilefs) http://identifiers.org/clinvar/202321 ^@ NM_001256850.1(TTN):c.62713G>A (p.Val20905Met) http://identifiers.org/clinvar/230520 ^@ NM_000038.5(APC):c.5038C>T (p.Gln1680Ter) http://identifiers.org/clinvar/233560 ^@ NM_000038.5(APC):c.5378C>G (p.Ala1793Gly) http://identifiers.org/clinvar/233160 ^@ NM_000038.5(APC):c.6127A>G (p.Ile2043Val) http://identifiers.org/clinvar/233260 ^@ NM_000038.5(APC):c.6522T>C (p.Ser2174=) http://identifiers.org/clinvar/229970 ^@ NM_000038.5(APC):c.8233C>T (p.Pro2745Ser) http://identifiers.org/clinvar/230020 ^@ NM_005732.3(RAD50):c.396G>A (p.Lys132=) http://identifiers.org/clinvar/233710 ^@ NM_000535.6(PMS2):c.194T>G (p.Leu65Arg) http://identifiers.org/clinvar/230120 ^@ NM_002485.4(NBN):c.310A>G (p.Ser104Gly) http://identifiers.org/clinvar/233310 ^@ NM_004329.2(BMPR1A):c.1343-4A>G http://identifiers.org/clinvar/230620 ^@ NM_000051.3(ATM):c.3992A>G (p.Gln1331Arg) http://identifiers.org/clinvar/231070 ^@ NM_000051.3(ATM):c.5661A>G (p.Ala1887=) http://identifiers.org/clinvar/231520 ^@ NM_000051.3(ATM):c.6681C>T (p.Arg2227=) http://identifiers.org/clinvar/232910 ^@ NM_000051.3(ATM):c.8585-1G>A http://identifiers.org/clinvar/230370 ^@ NM_000051.3(ATM):c.9089G>A (p.Gly3030Glu) http://identifiers.org/clinvar/232710 ^@ NM_000059.3(BRCA2):c.590C>G (p.Ser197Cys) http://identifiers.org/clinvar/233210 ^@ NM_000059.3(BRCA2):c.685G>A (p.Val229Met) http://identifiers.org/clinvar/230420 ^@ NM_000059.3(BRCA2):c.3069delC (p.Asn1023Lysfs) http://identifiers.org/clinvar/230820 ^@ NM_000059.3(BRCA2):c.3219G>A (p.Gln1073=) http://identifiers.org/clinvar/230170 ^@ NM_000059.3(BRCA2):c.3396delA (p.Lys1132Asnfs) http://identifiers.org/clinvar/232509 ^@ NM_000059.3(BRCA2):c.3852T>A (p.Ser1284Arg) http://identifiers.org/clinvar/231620 ^@ NM_000059.3(BRCA2):c.*2C>T http://identifiers.org/clinvar/230470 ^@ NM_000548.4(TSC2):c.1260G>T (p.Glu420Asp) http://identifiers.org/clinvar/233060 ^@ NM_000548.4(TSC2):c.4410C>T (p.Arg1470=) http://identifiers.org/clinvar/233610 ^@ NM_024675.3(PALB2):c.3095T>G (p.Met1032Arg) http://identifiers.org/clinvar/231670 ^@ NM_024675.3(PALB2):c.2096C>G (p.Ser699Cys) http://identifiers.org/clinvar/230570 ^@ NM_004360.4(CDH1):c.531+3A>G http://identifiers.org/clinvar/233360 ^@ NM_004360.4(CDH1):c.858C>A (p.Ala286=) http://identifiers.org/clinvar/233762 ^@ NM_004360.4(CDH1):c.2128A>C (p.Ile710Leu) http://identifiers.org/clinvar/232960 ^@ NM_001042492.2(NF1):c.1299T>A (p.Tyr433Ter) http://identifiers.org/clinvar/231470 ^@ NM_001042492.2(NF1):c.2434A>G (p.Ile812Val) http://identifiers.org/clinvar/232860 ^@ NM_001042492.2(NF1):c.7344A>G (p.Glu2448=) http://identifiers.org/clinvar/230770 ^@ NM_002878.3(RAD51D):c.725G>T (p.Gly242Val) http://identifiers.org/clinvar/230920 ^@ NM_007294.3(BRCA1):c.2663A>C (p.His888Pro) http://identifiers.org/clinvar/230320 ^@ NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) http://identifiers.org/clinvar/230970 ^@ NM_000546.5(TP53):c.1115A>G (p.Lys372Arg) http://identifiers.org/clinvar/233110 ^@ NM_000546.5(TP53):c.867C>T (p.Leu289=) http://identifiers.org/clinvar/231170 ^@ NM_000546.5(TP53):c.351G>A (p.Gly117=) http://identifiers.org/clinvar/232559 ^@ NM_005359.5(SMAD4):c.1562C>T (p.Thr521Ile) http://identifiers.org/clinvar/233510 ^@ NM_007194.3(CHEK2):c.1352T>C (p.Val451Ala) http://identifiers.org/clinvar/232610 ^@ NM_007194.3(CHEK2):c.896T>G (p.Ile299Ser) http://identifiers.org/clinvar/235266 ^@ NM_032382.4(COG8):c.1589C>T (p.Pro530Leu) http://identifiers.org/clinvar/235320 ^@ NM_000466.2(PEX1):c.1142C>A (p.Ala381Asp) http://identifiers.org/clinvar/235373 ^@ NM_022068.3(PIEZO2):c.3773A>G (p.Asn1258Ser) http://identifiers.org/clinvar/235426 ^@ NM_001497.3(B4GALT1):c.1064+5A>T http://identifiers.org/clinvar/235481 ^@ NM_203447.3(DOCK8):c.1193G>A (p.Arg398Gln) http://identifiers.org/clinvar/235534 ^@ NM_001012331.1(NTRK1):c.2321G>A (p.Arg774Gln) http://identifiers.org/clinvar/235585 ^@ NC_012920.1:m.1836A>G http://identifiers.org/clinvar/235635 ^@ NM_000081.3(LYST):c.6122-13delA http://identifiers.org/clinvar/235690 ^@ NM_033419.4(PGAP3):c.422C>G (p.Ala141Gly) http://identifiers.org/clinvar/235752 ^@ NM_030582.3(COL18A1):c.4204G>A (p.Val1402Met) http://identifiers.org/clinvar/235897 ^@ NM_014991.4(WDFY3):c.8864_8867dupTTGG (p.Phe2957Trpfs) http://identifiers.org/clinvar/236059 ^@ NM_005422.2(TECTA):c.2887G>A (p.Ala963Thr) http://identifiers.org/clinvar/236109 ^@ NM_000350.2(ABCA4):c.4195G>T (p.Glu1399Ter) http://identifiers.org/clinvar/236159 ^@ NM_004621.5(TRPC6):c.2455C>T (p.Leu819Phe) http://identifiers.org/clinvar/236227 ^@ NM_016111.3(TELO2):c.2296G>A (p.Val766Met) http://identifiers.org/clinvar/236297 ^@ NM_198578.3(LRRK2):c.7006A>G (p.Ile2336Val) http://identifiers.org/clinvar/236348 ^@ NC_000003.10:g.1065541_2351679dup1286139 http://identifiers.org/clinvar/236398 ^@ NC_000015.9:g.22528723_23226254del697532 http://identifiers.org/clinvar/236499 ^@ NM_001201543.1(FAM161A):c.1464G>A (p.Trp488Ter) http://identifiers.org/clinvar/236449 ^@ NM_000440.2(PDE6A):c.2119C>T (p.Arg707Trp) http://identifiers.org/clinvar/236549 ^@ GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985) http://identifiers.org/clinvar/238345 ^@ NM_001128425.1(MUTYH):c.333dupA (p.Pro112Thrfs) http://identifiers.org/clinvar/238795 ^@ NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val) http://identifiers.org/clinvar/238745 ^@ NM_001267550.2(TTN):c.33961G>A (p.Val11321Ile) http://identifiers.org/clinvar/238695 ^@ NM_001267550.2(TTN):c.10535T>C (p.Val3512Ala) http://identifiers.org/clinvar/237745 ^@ NM_000384.2(APOB):c.35_47delTGGCGCTGCCTGCinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu) http://identifiers.org/clinvar/237845 ^@ NM_000465.3(BARD1):c.863C>T (p.Ser288Phe) http://identifiers.org/clinvar/241749 ^@ NM_053025.3(MYLK):c.1113G>A (p.Arg371=) http://identifiers.org/clinvar/242199 ^@ NM_198056.2(SCN5A):c.4894C>T (p.Arg1632Cys) http://identifiers.org/clinvar/238595 ^@ NM_001148.4(ANK2):c.9383G>A (p.Ser3128Asn) http://identifiers.org/clinvar/236599 ^@ NM_000038.5(APC):c.4414G>A (p.Val1472Ile) http://identifiers.org/clinvar/236649 ^@ NM_000038.5(APC):c.7793C>A (p.Thr2598Asn) http://identifiers.org/clinvar/241499 ^@ NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=) http://identifiers.org/clinvar/238645 ^@ NM_001206927.1(DNAH8):c.4084-4G>T http://identifiers.org/clinvar/241399 ^@ NM_021930.5(RINT1):c.1696G>A (p.Ala566Thr) http://identifiers.org/clinvar/242249 ^@ NM_198428.2(BBS9):c.555C>T (p.Ala185=) http://identifiers.org/clinvar/237895 ^@ NM_000535.6(PMS2):c.1903G>A (p.Glu635Lys) http://identifiers.org/clinvar/261798 ^@ NM_025074.6(FRAS1):c.10696G>A (p.Val3566Ile) http://identifiers.org/clinvar/261598 ^@ NM_022455.4(NSD1):c.8022G>A (p.Glu2674=) http://identifiers.org/clinvar/256309 ^@ NM_000505.3(F12):c.1251-9C>T http://identifiers.org/clinvar/256359 ^@ NM_000521.3(HEXB):c.446-13A>G http://identifiers.org/clinvar/256259 ^@ NM_000493.3(COL10A1):c.*6_*7insCCC http://identifiers.org/clinvar/256059 ^@ NM_000426.3(LAMA2):c.2749+24C>A http://identifiers.org/clinvar/262198 ^@ NM_033071.3(SYNE1):c.7050+45T>C http://identifiers.org/clinvar/261098 ^@ NM_019105.6(TNXB):c.10707C>T (p.Ser3569=) http://identifiers.org/clinvar/261148 ^@ NM_019105.6(TNXB):c.6544+11A>G http://identifiers.org/clinvar/260209 ^@ NM_012160.4(FBXL4):c.465C>T (p.Leu155=) http://identifiers.org/clinvar/256159 ^@ NM_000443.3(ABCB4):c.1893+6T>C http://identifiers.org/clinvar/256709 ^@ NM_000553.4(WRN):c.355+20A>T http://identifiers.org/clinvar/262798 ^@ NM_172058.3(EYA1):c.556+18G>T http://identifiers.org/clinvar/262748 ^@ NM_153704.5(TMEM67):c.2908-43C>T http://identifiers.org/clinvar/259809 ^@ NM_005592.3(MUSK):c.320G>A (p.Gly107Glu) http://identifiers.org/clinvar/256859 ^@ NM_001003722.1(GLE1):c.322-35_322-29delTTTTTTA http://identifiers.org/clinvar/261198 ^@ NM_019892.5(INPP5E):c.1549+40G>A http://identifiers.org/clinvar/262098 ^@ NM_032634.3(PIGO):c.423C>T (p.Gly141=) http://identifiers.org/clinvar/261398 ^@ NM_020975.4(RET):c.867+48A>G http://identifiers.org/clinvar/262148 ^@ NM_033056.3(PCDH15):c.2751+43C>G http://identifiers.org/clinvar/261548 ^@ NM_022124.5(CDH23):c.429+26A>G http://identifiers.org/clinvar/261748 ^@ NM_024649.4(BBS1):c.159+14C>T http://identifiers.org/clinvar/255659 ^@ NM_000260.3(MYO7A):c.1004-35C>G http://identifiers.org/clinvar/261248 ^@ NM_020376.3(PNPLA2):c.873C>G (p.Pro291=) http://identifiers.org/clinvar/262248 ^@ NM_052845.3(MMAB):c.584+24A>G http://identifiers.org/clinvar/255759 ^@ NM_000289.5(PFKM):c.246G>A (p.Thr82=) http://identifiers.org/clinvar/261848 ^@ NM_025114.3(CEP290):c.5013-21A>G http://identifiers.org/clinvar/255309 ^@ NM_000138.4(FBN1):c.737-21_737-20delCT http://identifiers.org/clinvar/332904 ^@ NM_133378.4(TTN):c.24372A>G (p.Ala8124=) http://identifiers.org/clinvar/335045 ^@ NM_002242.4(KCNJ13):c.*342A>G http://identifiers.org/clinvar/335745 ^@ NM_000379.3(XDH):c.*881G>A http://identifiers.org/clinvar/333004 ^@ NM_201548.4(CERKL):c.1556T>C (p.Ile519Thr) http://identifiers.org/clinvar/335845 ^@ NM_014946.3(SPAST):c.*478G>T http://identifiers.org/clinvar/335345 ^@ NM_152783.4(D2HGDH):c.*669G>A http://identifiers.org/clinvar/335445 ^@ NM_194248.2(OTOF):c.2605G>T (p.Asp869Tyr) http://identifiers.org/clinvar/333054 ^@ NM_000090.3(COL3A1):c.1509+7A>C http://identifiers.org/clinvar/335645 ^@ NM_001029883.2(C2orf71):c.2965C>A (p.Pro989Thr) http://identifiers.org/clinvar/337041 ^@ NM_080916.2(DGUOK):c.-54C>A http://identifiers.org/clinvar/337141 ^@ NM_013247.4(HTRA2):c.*291G>A http://identifiers.org/clinvar/337541 ^@ NM_014014.4(SNRNP200):c.4448G>A (p.Arg1483Gln) http://identifiers.org/clinvar/337191 ^@ NM_000821.6(GGCX):c.*3757T>C http://identifiers.org/clinvar/334595 ^@ NM_003590.4(CUL3):c.*2584T>C http://identifiers.org/clinvar/337241 ^@ NM_000821.6(GGCX):c.*610C>T http://identifiers.org/clinvar/334645 ^@ NM_000092.4(COL4A4):c.*4173A>T http://identifiers.org/clinvar/335095 ^@ NM_004369.3(COL6A3):c.*90C>T http://identifiers.org/clinvar/334745 ^@ NM_000092.4(COL4A4):c.-408G>A http://identifiers.org/clinvar/337591 ^@ NM_020184.3(CNNM4):c.2137C>T (p.Arg713Trp) http://identifiers.org/clinvar/334895 ^@ NM_004509.3(SP110):c.1833G>C (p.Glu611Asp) http://identifiers.org/clinvar/335295 ^@ NM_000030.2(AGXT):c.484G>A (p.Val162Met) http://identifiers.org/clinvar/334995 ^@ NM_000751.2(CHRND):c.*1194C>T http://identifiers.org/clinvar/335395 ^@ NM_000183.2(HADHB):c.-201G>A http://identifiers.org/clinvar/335195 ^@ NM_004544.3(NDUFA10):c.*407C>T http://identifiers.org/clinvar/335245 ^@ NM_004321.7(KIF1A):c.*576C>T http://identifiers.org/clinvar/335695 ^@ NM_004304.4(ALK):c.3336G>A (p.Pro1112=) http://identifiers.org/clinvar/335545 ^@ NM_015636.3(EIF2B4):c.158A>G (p.Glu53Gly) http://identifiers.org/clinvar/343931 ^@ NM_024996.5(GFM1):c.1324-15T>A http://identifiers.org/clinvar/335595 ^@ NM_001029883.2(C2orf71):c.*1844C>G http://identifiers.org/clinvar/344031 ^@ NM_001041.3(SI):c.3242G>A (p.Ser1081Asn) http://identifiers.org/clinvar/335795 ^@ NM_000379.3(XDH):c.627G>A (p.Glu209=) http://identifiers.org/clinvar/357337 ^@ NM_003221.3(TFAP2B):c.*3074C>T http://identifiers.org/clinvar/350600 ^@ NM_005573.3(LMNB1):c.-595G>A http://identifiers.org/clinvar/350750 ^@ NM_001999.3(FBN2):c.*284C>T http://identifiers.org/clinvar/350850 ^@ NM_014402.4(UQCRQ):c.*658A>C http://identifiers.org/clinvar/350900 ^@ NM_000358.2(TGFBI):c.*458G>A http://identifiers.org/clinvar/351000 ^@ NM_017415.2(KLHL3):c.-303G>C http://identifiers.org/clinvar/351150 ^@ NM_199189.2(MATR3):c.*275C>T http://identifiers.org/clinvar/358376 ^@ NM_005045.3(RELN):c.10287-7T>G http://identifiers.org/clinvar/358526 ^@ NM_000441.1(SLC26A4):c.*1960T>A http://identifiers.org/clinvar/351400 ^@ NM_054027.4(ANKH):c.*5768T>C http://identifiers.org/clinvar/358726 ^@ NM_001127500.2(MET):c.*2051C>T http://identifiers.org/clinvar/358926 ^@ NM_018718.2(CEP41):c.*1385T>G http://identifiers.org/clinvar/358976 ^@ NM_005989.3(AKR1D1):c.*1139G>C http://identifiers.org/clinvar/359076 ^@ NM_018238.3(AGK):c.*967T>C http://identifiers.org/clinvar/356037 ^@ NM_003730.4(RNASET2):c.147+3G>A http://identifiers.org/clinvar/356087 ^@ NM_000367.4(TPMT):c.*1820A>G http://identifiers.org/clinvar/356137 ^@ NM_001080.3(ALDH5A1):c.925G>A (p.Gly309Ser) http://identifiers.org/clinvar/356287 ^@ NM_001710.5(CFB):c.1365C>T (p.Val455=) http://identifiers.org/clinvar/356337 ^@ NM_006929.4(SKIV2L):c.2340+13G>A http://identifiers.org/clinvar/356637 ^@ NM_005943.5(MOCS1):c.*903T>G http://identifiers.org/clinvar/356887 ^@ NM_006502.2(POLH):c.-242C>G http://identifiers.org/clinvar/356937 ^@ NM_006502.2(POLH):c.*1139C>T http://identifiers.org/clinvar/360465 ^@ NM_005228.4(EGFR):c.2062-7C>G http://identifiers.org/clinvar/357387 ^@ NM_138694.3(PKHD1):c.*1335T>C http://identifiers.org/clinvar/361215 ^@ NM_178857.5(RP1L1):c.6644C>T (p.Pro2215Leu) http://identifiers.org/clinvar/361415 ^@ NM_178857.5(RP1L1):c.337C>T (p.Pro113Ser) http://identifiers.org/clinvar/361675 ^@ NM_000127.2(EXT1):c.-642G>A http://identifiers.org/clinvar/361725 ^@ NM_014846.3(WASHC5):c.1245A>G (p.Leu415=) http://identifiers.org/clinvar/361775 ^@ NM_004519.3(KCNQ3):c.*6351A>G http://identifiers.org/clinvar/361825 ^@ NM_004519.3(KCNQ3):c.*3544A>G http://identifiers.org/clinvar/299817 ^@ NM_021252.4(RAB18):c.270C>A (p.Val90=) http://identifiers.org/clinvar/299867 ^@ NM_021252.4(RAB18):c.*3167G>A http://identifiers.org/clinvar/363914 ^@ NM_002485.4(NBN):c.1383G>A (p.Pro461=) http://identifiers.org/clinvar/300117 ^@ NM_000242.2(MBL2):c.*1913C>T http://identifiers.org/clinvar/300167 ^@ NM_033056.3(PCDH15):c.5653C>T (p.His1885Tyr) http://identifiers.org/clinvar/361065 ^@ NM_017890.4(VPS13B):c.5168G>T (p.Gly1723Val) http://identifiers.org/clinvar/307321 ^@ NM_000192.3(TBX5):c.-637G>A http://identifiers.org/clinvar/308160 ^@ NM_000719.6(CACNA1C):c.5492C>T (p.Thr1831Met) http://identifiers.org/clinvar/308310 ^@ NM_139241.3(FGD4):c.*1007G>A http://identifiers.org/clinvar/308360 ^@ NM_139241.3(FGD4):c.*4369dupA http://identifiers.org/clinvar/308560 ^@ NM_017641.3(KIF21A):c.3293T>C (p.Val1098Ala) http://identifiers.org/clinvar/308610 ^@ NM_198578.3(LRRK2):c.344A>C (p.His115Pro) http://identifiers.org/clinvar/308860 ^@ NM_001017535.1(VDR):c.*534T>C http://identifiers.org/clinvar/365703 ^@ NM_000093.4(COL5A1):c.-110A>G http://identifiers.org/clinvar/365753 ^@ NM_000093.4(COL5A1):c.*596A>G http://identifiers.org/clinvar/309060 ^@ NM_003482.3(KMT2D):c.5231G>A (p.Ser1744Asn) http://identifiers.org/clinvar/365803 ^@ NM_014564.4(LHX3):c.*638G>T http://identifiers.org/clinvar/365853 ^@ NM_052813.4(CARD9):c.297G>A (p.Pro99=) http://identifiers.org/clinvar/309310 ^@ NM_000617.2(SLC11A2):c.1348-10T>C http://identifiers.org/clinvar/309460 ^@ NM_000020.2(ACVRL1):c.*935G>C http://identifiers.org/clinvar/302106 ^@ NM_030962.3(SBF2):c.-128C>T http://identifiers.org/clinvar/302006 ^@ NM_001080463.1(DYNC2H1):c.1000-7A>G http://identifiers.org/clinvar/302206 ^@ NM_000019.3(ACAT1):c.1006-10A>G http://identifiers.org/clinvar/302306 ^@ NM_002906.3(RDX):c.*1368A>C http://identifiers.org/clinvar/366104 ^@ NM_144966.5(FREM1):c.6139-4T>A http://identifiers.org/clinvar/302556 ^@ NM_001558.3(IL10RA):c.1259C>T (p.Ser420Leu) http://identifiers.org/clinvar/302606 ^@ NM_174934.3(SCN4B):c.*1993delC http://identifiers.org/clinvar/302756 ^@ NM_001382.3(DPAGT1):c.-300C>T http://identifiers.org/clinvar/310904 ^@ NM_000123.3(ERCC5):c.-242T>C http://identifiers.org/clinvar/340431 ^@ NM_006657.2(FTCD):c.625G>A (p.Gly209Arg) http://identifiers.org/clinvar/321878 ^@ NM_006445.3(PRPF8):c.6078C>T (p.Ile2026=) http://identifiers.org/clinvar/340532 ^@ NM_006031.5(PCNT):c.8028C>T (p.His2676=) http://identifiers.org/clinvar/322228 ^@ NM_000382.2(ALDH3A2):c.*694C>T http://identifiers.org/clinvar/312943 ^@ NM_001099274.1(TINF2):c.*91T>C http://identifiers.org/clinvar/314693 ^@ NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) http://identifiers.org/clinvar/312993 ^@ NM_000359.2(TGM1):c.270T>A (p.Pro90=) http://identifiers.org/clinvar/313243 ^@ NM_002408.3(MGAT2):c.-425C>T http://identifiers.org/clinvar/313343 ^@ NM_001202.5(BMP4):c.*148_*149insAG http://identifiers.org/clinvar/313443 ^@ NM_005982.3(SIX1):c.*1270_*1271delAT http://identifiers.org/clinvar/315782 ^@ NM_152594.2(SPRED1):c.*4744G>T http://identifiers.org/clinvar/313943 ^@ NM_000021.3(PSEN1):c.-180C>T http://identifiers.org/clinvar/367793 ^@ NM_001167.3(XIAP):c.933G>A (p.Lys311=) http://identifiers.org/clinvar/316032 ^@ NM_000119.2(EPB42):c.-261G>T http://identifiers.org/clinvar/368093 ^@ NM_001042351.2(G6PD):c.*535G>T http://identifiers.org/clinvar/316182 ^@ NM_014080.4(DUOX2):c.567C>T (p.His189=) http://identifiers.org/clinvar/324117 ^@ NM_000088.3(COL1A1):c.627C>T (p.Gly209=) http://identifiers.org/clinvar/316382 ^@ NM_000138.4(FBN1):c.2903C>T (p.Thr968Ile) http://identifiers.org/clinvar/324174 ^@ NM_058216.2(RAD51C):c.*25C>G http://identifiers.org/clinvar/324376 ^@ NM_000789.3(ACE):c.1227T>C (p.Arg409=) http://identifiers.org/clinvar/368782 ^@ NM_024921.3(POF1B):c.1644T>C (p.Thr548=) http://identifiers.org/clinvar/324776 ^@ NM_002734.4(PRKAR1A):c.-75G>T http://identifiers.org/clinvar/325176 ^@ NM_001005731.2(ITGB4):c.3230G>T (p.Arg1077Leu) http://identifiers.org/clinvar/325226 ^@ NM_000154.1(GALK1):c.1024C>T (p.Arg342Cys) http://identifiers.org/clinvar/315682 ^@ NM_005159.4(ACTC1):c.*737C>T http://identifiers.org/clinvar/315732 ^@ NM_152594.2(SPRED1):c.-87C>T http://identifiers.org/clinvar/315932 ^@ NM_138477.2(CDAN1):c.2516C>T (p.Pro839Leu) http://identifiers.org/clinvar/315982 ^@ NM_173500.3(TTBK2):c.2831G>A (p.Arg944Gln) http://identifiers.org/clinvar/316082 ^@ NM_025137.3(SPG11):c.6205+14dupC http://identifiers.org/clinvar/325916 ^@ NM_001139.2(ALOX12B):c.301G>A (p.Ala101Thr) http://identifiers.org/clinvar/372270 ^@ NM_032171.1(CEP78):c.534delT (p.Lys179Argfs) http://identifiers.org/clinvar/373493 ^@ NM_198056.2(SCN5A):c.1037A>G (p.Glu346Gly) http://identifiers.org/clinvar/372787 ^@ NM_003722.4(TP63):c.1048A>G (p.Arg350Gly) http://identifiers.org/clinvar/372840 ^@ NM_005633.3(SOS1):c.3269dupC (p.Pro1091Alafs) http://identifiers.org/clinvar/373143 ^@ NM_001010938.1(TNK2):c.3126+106A>T http://identifiers.org/clinvar/372890 ^@ NM_022455.4(NSD1):c.6058A>T (p.Asn2020Tyr) http://identifiers.org/clinvar/372583 ^@ NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) http://identifiers.org/clinvar/373093 ^@ NM_000089.3(COL1A2):c.2531G>C (p.Gly844Ala) http://identifiers.org/clinvar/372373 ^@ NM_032119.3(ADGRV1):c.956dupA (p.Asn319Lysfs) http://identifiers.org/clinvar/373543 ^@ NM_006073.3(TRDN):c.1589C>G (p.Ala530Gly) http://identifiers.org/clinvar/372685 ^@ NM_000521.3(HEXB):c.1417G>A (p.Gly473Ser) http://identifiers.org/clinvar/373443 ^@ NM_015093.5(TAB2):c.1039C>T (p.Arg347Ter) http://identifiers.org/clinvar/372633 ^@ NM_032634.3(PIGO):c.1132C>T (p.Leu378Phe) http://identifiers.org/clinvar/372532 ^@ NM_000359.2(TGM1):c.790C>T (p.Arg264Trp) http://identifiers.org/clinvar/373593 ^@ NM_130468.3(CHST14):c.635T>C (p.Val212Ala) http://identifiers.org/clinvar/373043 ^@ NM_005249.4(FOXG1):c.645C>G (p.Phe215Leu) http://identifiers.org/clinvar/372424 ^@ NM_017534.5(MYH2):c.41C>T (p.Ala14Val) http://identifiers.org/clinvar/373293 ^@ NM_033419.4(PGAP3):c.694+1G>A http://identifiers.org/clinvar/373393 ^@ NM_001793.5(CDH3):c.410G>A (p.Arg137Lys) http://identifiers.org/clinvar/373193 ^@ NM_015272.4(RPGRIP1L):c.2815G>A (p.Glu939Lys) http://identifiers.org/clinvar/373343 ^@ NM_000540.2(RYR1):c.1415A>G (p.Asn472Ser) http://identifiers.org/clinvar/372943 ^@ NM_030662.3(MAP2K2):c.247G>A (p.Gly83Ser) http://identifiers.org/clinvar/372993 ^@ NM_006767.3(LZTR1):c.344C>T (p.Pro115Leu) http://identifiers.org/clinvar/372479 ^@ NM_173495.2(PTCHD1):c.1969_1972delAACA (p.Asn657Glufs) http://identifiers.org/clinvar/373243 ^@ NM_000117.2(EMD):c.436G>A (p.Glu146Lys) http://identifiers.org/clinvar/372737 ^@ NM_004187.3(KDM5C):c.2092G>A (p.Glu698Lys) http://identifiers.org/clinvar/372323 ^@ NM_000390.3(CHM):c.1342C>T (p.Gln448Ter) http://identifiers.org/clinvar/374309 ^@ NM_006086.3(TUBB3):c.982G>A (p.Glu328Lys) http://identifiers.org/clinvar/374374 ^@ NC_000023.10:g.(6497085_?)_(?_7910475)del http://identifiers.org/clinvar/374427 ^@ NM_006702.4(PNPLA6):c.3582C>A (p.Ile1194=) http://identifiers.org/clinvar/374477 ^@ NM_031226.2(CYP19A1):c.201G>A (p.Trp67Ter) http://identifiers.org/clinvar/374527 ^@ NM_002693.2(POLG):c.2651A>G (p.Tyr884Cys) http://identifiers.org/clinvar/374577 ^@ NM_004453.3(ETFDH):c.1366C>T (p.Pro456Ser) http://identifiers.org/clinvar/374627 ^@ NM_018051.4(WDR60):c.2155G>T (p.Gly719Cys) http://identifiers.org/clinvar/374777 ^@ NM_000271.4(NPC1):c.2546G>T (p.Ser849Ile) http://identifiers.org/clinvar/374837 ^@ NM_004444.4(EPHB4):c.2345T>G (p.Ile782Ser) http://identifiers.org/clinvar/374887 ^@ NM_022089.3(ATP13A2):c.3152_3154delTCT (p.Phe1051del) http://identifiers.org/clinvar/374954 ^@ NM_001204798.1(KCNH2):c.78C>T (p.Ala26=) http://identifiers.org/clinvar/375224 ^@ NM_000317.2(PTS):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/375285 ^@ NM_005215.3(DCC):c.2227A>T (p.Met743Leu) http://identifiers.org/clinvar/375339 ^@ NM_015697.7(COQ2):c.905C>T (p.Ala302Val) http://identifiers.org/clinvar/375391 ^@ NM_199053.2(TRAPPC11):c.142C>T (p.Arg48Ter) http://identifiers.org/clinvar/375446 ^@ NM_000059.3(BRCA2):c.29C>A (p.Thr10Lys) http://identifiers.org/clinvar/375514 ^@ NM_006920.4(SCN1A):c.4787_4788delTT (p.Phe1596Terfs) http://identifiers.org/clinvar/375571 ^@ NM_015100.3(POGZ):c.1727T>C (p.Leu576Pro) http://identifiers.org/clinvar/375631 ^@ NM_001243234.1(TCF4):c.656dupT (p.Leu219Phefs) http://identifiers.org/clinvar/375688 ^@ MOGS, ALA22GLU (rs753961807) AND ARG110HIS http://identifiers.org/clinvar/375776 ^@ NM_000527.4(LDLR):c.191T>A (p.Leu64Ter) http://identifiers.org/clinvar/375826 ^@ NM_000527.4(LDLR):c.1980_1983delGCCA (p.Pro661Glufs) http://identifiers.org/clinvar/375879 ^@ NM_175629.2(DNMT3A):c.2645G>T (p.Arg882Leu) http://identifiers.org/clinvar/375929 ^@ NM_000222.2(KIT):c.2460T>A (p.Asp820Glu) http://identifiers.org/clinvar/386833 ^@ NM_001256850.1(TTN):c.11790G>A (p.Glu3930=) http://identifiers.org/clinvar/389422 ^@ NM_000251.2(MSH2):c.1511-4C>G http://identifiers.org/clinvar/381499 ^@ NM_000179.2(MSH6):c.1989T>G (p.Thr663=) http://identifiers.org/clinvar/389822 ^@ NM_015120.4(ALMS1):c.8114C>T (p.Ser2705Phe) http://identifiers.org/clinvar/377736 ^@ NM_000393.4(COL5A2):c.2895A>G (p.Pro965=) http://identifiers.org/clinvar/386633 ^@ NM_000179.2(MSH6):c.399T>C (p.Phe133=) http://identifiers.org/clinvar/378288 ^@ NM_001135659.2(NRXN1):c.1338C>A (p.Thr446=) http://identifiers.org/clinvar/383392 ^@ NM_002880.3(RAF1):c.835-9C>G http://identifiers.org/clinvar/392561 ^@ NM_003494.3(DYSF):c.3996C>T (p.Thr1332=) http://identifiers.org/clinvar/385494 ^@ NM_000384.2(APOB):c.7565G>A (p.Arg2522Gln) http://identifiers.org/clinvar/390222 ^@ NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) http://identifiers.org/clinvar/385794 ^@ NM_004130.3(GYG1):c.609G>A (p.Val203=) http://identifiers.org/clinvar/386933 ^@ NM_205847.2(GMPPA):c.816G>A (p.Arg272=) http://identifiers.org/clinvar/392611 ^@ NM_198056.2(SCN5A):c.5664C>T (p.Ser1888=) http://identifiers.org/clinvar/384644 ^@ NM_013334.3(GMPPB):c.309T>C (p.Pro103=) http://identifiers.org/clinvar/385144 ^@ NM_024582.4(FAT4):c.11613C>T (p.Cys3871=) http://identifiers.org/clinvar/378138 ^@ NM_152778.2(MFSD8):c.1320A>G (p.Leu440=) http://identifiers.org/clinvar/390172 ^@ NM_005506.3(SCARB2):c.117+14G>A http://identifiers.org/clinvar/386783 ^@ NM_153717.2(EVC):c.2712C>T (p.Ser904=) http://identifiers.org/clinvar/391411 ^@ NM_000038.5(APC):c.1392T>C (p.His464=) http://identifiers.org/clinvar/387333 ^@ NM_004168.3(SDHA):c.1569T>C (p.Ala523=) http://identifiers.org/clinvar/387133 ^@ NM_002880.3(RAF1):c.873A>T (p.Ser291=) http://identifiers.org/clinvar/389322 ^@ NM_017651.4(AHI1):c.493G>A (p.Val165Ile) http://identifiers.org/clinvar/387083 ^@ NM_033071.3(SYNE1):c.9528+6T>C http://identifiers.org/clinvar/390622 ^@ NM_020732.3(ARID1B):c.3007A>G (p.Met1003Val) http://identifiers.org/clinvar/378544 ^@ NM_198056.2(SCN5A):c.3276C>T (p.Ser1092=) http://identifiers.org/clinvar/387533 ^@ NM_005051.2(QARS):c.930G>A (p.Glu310=) http://identifiers.org/clinvar/385644 ^@ NM_001148.4(ANK2):c.4371+19T>C http://identifiers.org/clinvar/391661 ^@ NM_018238.3(AGK):c.519-5T>C http://identifiers.org/clinvar/384093 ^@ NM_020732.3(ARID1B):c.6406T>C (p.Ser2136Pro) http://identifiers.org/clinvar/377836 ^@ NM_004456.4(EZH2):c.2196-20T>C http://identifiers.org/clinvar/381699 ^@ NM_178012.4(TUBB2B):c.743C>T (p.Ala248Val) http://identifiers.org/clinvar/384694 ^@ NM_017946.3(FKBP14):c.165C>T (p.Tyr55=) http://identifiers.org/clinvar/390422 ^@ NM_000255.3(MUT):c.-16G>A http://identifiers.org/clinvar/381599 ^@ NM_000162.3(GCK):c.703A>G (p.Met235Val) http://identifiers.org/clinvar/381749 ^@ NM_001999.3(FBN2):c.8193-18T>A http://identifiers.org/clinvar/385344 ^@ NM_001999.3(FBN2):c.3750C>T (p.Asn1250=) http://identifiers.org/clinvar/384594 ^@ NM_002485.4(NBN):c.-38C>G http://identifiers.org/clinvar/392511 ^@ NM_016203.3(PRKAG2):c.64G>A (p.Gly22Ser) http://identifiers.org/clinvar/389622 ^@ NM_005005.2(NDUFB9):c.294+13T>C http://identifiers.org/clinvar/390322 ^@ NM_001130438.2(SPTAN1):c.1824A>G (p.Gln608=) http://identifiers.org/clinvar/389922 ^@ NM_000368.4(TSC1):c.210+13A>G http://identifiers.org/clinvar/384794 ^@ NM_017780.3(CHD7):c.5665+9C>T http://identifiers.org/clinvar/391311 ^@ NM_001130438.2(SPTAN1):c.126T>C (p.Asp42=) http://identifiers.org/clinvar/387433 ^@ NM_000118.3(ENG):c.1014C>T (p.Pro338=) http://identifiers.org/clinvar/390022 ^@ NM_201590.2(CACNB2):c.1327-12T>G http://identifiers.org/clinvar/391511 ^@ NM_006624.5(ZMYND11):c.478A>C (p.Thr160Pro) http://identifiers.org/clinvar/133086 ^@ NM_000540.2(RYR1):c.14667C>G (p.Tyr4889Ter) http://identifiers.org/clinvar/133718 ^@ NM_004329.2(BMPR1A):c.437T>C (p.Phe146Ser) http://identifiers.org/clinvar/133772 ^@ NM_001211.5(BUB1B):c.3011A>G (p.Asn1004Ser) http://identifiers.org/clinvar/133822 ^@ NM_001321786.1(CBLB):c.1754C>T (p.Pro585Leu) http://identifiers.org/clinvar/133872 ^@ NM_015083.2(CDK12):c.1988G>A (p.Arg663His) http://identifiers.org/clinvar/133922 ^@ NM_015125.4(CIC):c.1375G>A (p.Gly459Ser) http://identifiers.org/clinvar/133972 ^@ NM_177438.2(DICER1):c.4795C>T (p.Arg1599Trp) http://identifiers.org/clinvar/134022 ^@ NM_005228.4(EGFR):c.1570G>A (p.Val524Ile) http://identifiers.org/clinvar/134074 ^@ NM_001005862.2(ERBB2):c.43A>G (p.Met15Val) http://identifiers.org/clinvar/134124 ^@ NM_000122.1(ERCC3):c.172G>A (p.Ala58Thr) http://identifiers.org/clinvar/134174 ^@ NM_000123.3(ERCC5):c.3427G>A (p.Ala1143Thr) http://identifiers.org/clinvar/134224 ^@ NM_004456.4(EZH2):c.553G>C (p.Asp185His) http://identifiers.org/clinvar/134275 ^@ NM_000135.2(FANCA):c.3859G>A (p.Val1287Ile) http://identifiers.org/clinvar/134325 ^@ NM_001018115.2(FANCD2):c.3808A>G (p.Met1270Val) http://identifiers.org/clinvar/134376 ^@ NM_025133.4(FBXO11):c.2239A>G (p.Ser747Gly) http://identifiers.org/clinvar/134426 ^@ NM_144997.5(FLCN):c.592G>A (p.Asp198Asn) http://identifiers.org/clinvar/134476 ^@ NM_001309883.1(GNAS):c.1041_1067del27 (p.Pro349_Ile357del) http://identifiers.org/clinvar/134526 ^@ NM_002185.3(IL7R):c.438T>A (p.Phe146Leu) http://identifiers.org/clinvar/134576 ^@ NM_000215.3(JAK3):c.94G>A (p.Ala32Thr) http://identifiers.org/clinvar/134626 ^@ NM_000222.2(KIT):c.101C>A (p.Pro34Gln) http://identifiers.org/clinvar/134678 ^@ NM_003482.3(KMT2D):c.5386C>T (p.Arg1796Trp) http://identifiers.org/clinvar/134729 ^@ NM_003482.3(KMT2D):c.15317G>A (p.Arg5106His) http://identifiers.org/clinvar/134779 ^@ NM_170606.2(KMT2C):c.7829G>A (p.Arg2610Gln) http://identifiers.org/clinvar/134830 ^@ NM_005373.2(MPL):c.619G>A (p.Asp207Asn) http://identifiers.org/clinvar/134883 ^@ NM_001042492.2(NF1):c.1894T>A (p.Cys632Ser) http://identifiers.org/clinvar/134933 ^@ NM_017617.4(NOTCH1):c.4066C>T (p.Arg1356Cys) http://identifiers.org/clinvar/134983 ^@ NM_024408.3(NOTCH2):c.7075C>G (p.Pro2359Ala) http://identifiers.org/clinvar/135033 ^@ NM_003924.3(PHOX2B):c.59G>C (p.Gly20Ala) http://identifiers.org/clinvar/135216 ^@ NM_014159.6(SETD2):c.3136A>G (p.Asn1046Asp) http://identifiers.org/clinvar/135267 ^@ NM_005631.4(SMO):c.518G>A (p.Arg173His) http://identifiers.org/clinvar/135317 ^@ NM_001127208.2(TET2):c.1064G>A (p.Gly355Asp) http://identifiers.org/clinvar/135367 ^@ NM_000368.4(TSC1):c.3168_3171delAGGCinsGGTG (p.Gly1057Val) http://identifiers.org/clinvar/135418 ^@ NM_000553.4(WRN):c.1762G>A (p.Val588Ile) http://identifiers.org/clinvar/135468 ^@ NM_004628.4(XPC):c.2066C>T (p.Thr689Met) http://identifiers.org/clinvar/135518 ^@ NM_001346897.1(EGFR):c.3217C>T (p.Gln1073Ter) http://identifiers.org/clinvar/135569 ^@ NC_000002.12:g.47678259C>A http://identifiers.org/clinvar/135644 ^@ NC_000006.10:g.(160991083_161362841)_(170663087_170899992)del http://identifiers.org/clinvar/135703 ^@ NM_000038.5(APC):c.4525C>T (p.Leu1509=) http://identifiers.org/clinvar/135754 ^@ NM_000051.3(ATM):c.4473C>T (p.Phe1491=) http://identifiers.org/clinvar/135813 ^@ NM_000059.3(BRCA2):c.7317A>G (p.Gly2439=) http://identifiers.org/clinvar/135863 ^@ NM_000251.2(MSH2):c.631G>A (p.Gly211Arg) http://identifiers.org/clinvar/135913 ^@ NM_000314.6(PTEN):c.885A>G (p.Leu295=) http://identifiers.org/clinvar/135963 ^@ NM_001127500.2(MET):c.2216G>A (p.Arg739His) http://identifiers.org/clinvar/136015 ^@ NM_001166110.1(PALLD):c.902T>G (p.Ile301Ser) http://identifiers.org/clinvar/136065 ^@ NM_004360.4(CDH1):c.2287G>T (p.Glu763Ter) http://identifiers.org/clinvar/136116 ^@ NM_020975.4(RET):c.3188-9C>T http://identifiers.org/clinvar/187009 ^@ NM_001042492.2(NF1):c.7164T>C (p.Phe2388=) http://identifiers.org/clinvar/187559 ^@ NM_007294.3(BRCA1):c.3874T>C (p.Ser1292Pro) http://identifiers.org/clinvar/187259 ^@ NM_007294.3(BRCA1):c.1964delA (p.Tyr655Serfs) http://identifiers.org/clinvar/187359 ^@ NM_007294.3(BRCA1):c.1506A>G (p.Leu502=) http://identifiers.org/clinvar/184968 ^@ NM_032043.2(BRIP1):c.2258A>G (p.Asp753Gly) http://identifiers.org/clinvar/185568 ^@ NM_032043.2(BRIP1):c.276A>G (p.Ser92=) http://identifiers.org/clinvar/185918 ^@ NM_000546.5(TP53):c.419C>A (p.Thr140Asn) http://identifiers.org/clinvar/185068 ^@ NM_007194.3(CHEK2):c.1260-1G>A http://identifiers.org/clinvar/185868 ^@ NM_007194.3(CHEK2):c.925C>G (p.Leu309Val) http://identifiers.org/clinvar/187209 ^@ NM_007194.3(CHEK2):c.889T>G (p.Tyr297Asp) http://identifiers.org/clinvar/187820 ^@ NC_000002.11:g.(?_239873381)_(243006013_?)dup http://identifiers.org/clinvar/187892 ^@ NM_005957.4(MTHFR):c.1262G>C (p.Trp421Ser) http://identifiers.org/clinvar/187942 ^@ NM_004409.4(DMPK):c.*224_*226[235] http://identifiers.org/clinvar/187992 ^@ NM_004409.4(DMPK):c.*224_*226[50] http://identifiers.org/clinvar/188042 ^@ NM_004409.4(DMPK):c.*224_*226[96] http://identifiers.org/clinvar/188144 ^@ NM_000238.3(KCNH2):c.2900dupC (p.Pro968Alafs) http://identifiers.org/clinvar/188194 ^@ NM_000051.3(ATM):c.4304A>C (p.Lys1435Thr) http://identifiers.org/clinvar/188093 ^@ NM_024675.3(PALB2):c.3114-?_3350+?del http://identifiers.org/clinvar/189743 ^@ NM_004992.3(MECP2):c.1043_1173del131insTG (p.Glu348_Pro391delinsVal) http://identifiers.org/clinvar/189813 ^@ NC_000017.11:g.(?_68512379)_(68512548_?)del http://identifiers.org/clinvar/189877 ^@ NM_001165963.1(SCN1A):c.3970_3971dupCT (p.Arg1325Terfs) http://identifiers.org/clinvar/189977 ^@ NM_001165963.1(SCN1A):c.1301delT (p.Leu434Trpfs) http://identifiers.org/clinvar/189927 ^@ NM_001165963.1(SCN1A):c.384-1C>G http://identifiers.org/clinvar/190027 ^@ NM_001165963.1(SCN1A):c.384_1662dup http://identifiers.org/clinvar/190213 ^@ NM_004628.4(XPC):c.2251-1G>C http://identifiers.org/clinvar/190162 ^@ NM_000124.3(ERCC6):c.2599-26A>G http://identifiers.org/clinvar/190268 ^@ NM_014362.3(HIBCH):c.196C>T (p.Arg66Trp) http://identifiers.org/clinvar/190346 ^@ NM_002055.4(GFAP):c.791T>C (p.Leu264Pro) http://identifiers.org/clinvar/190407 ^@ NM_000257.3(MYH7):c.4807G>C (p.Ala1603Pro) http://identifiers.org/clinvar/227879 ^@ NM_016203.3(PRKAG2):c.837G>A (p.Lys279=) http://identifiers.org/clinvar/228679 ^@ NM_172060.3(EYA1):c.6G>T (p.Leu2Phe) http://identifiers.org/clinvar/228979 ^@ NM_017433.4(MYO3A):c.2115-10A>G http://identifiers.org/clinvar/229129 ^@ NM_001142769.1(PCDH15):c.5278delT (p.Trp1760Glyfs) http://identifiers.org/clinvar/228329 ^@ NM_022124.5(CDH23):c.7483-1G>C http://identifiers.org/clinvar/228229 ^@ NM_014000.2(VCL):c.1543+15G>A http://identifiers.org/clinvar/226736 ^@ NM_002458.2(MUC5B):c.16593+15G>C http://identifiers.org/clinvar/226686 ^@ NM_000218.2(KCNQ1):c.605-11G>A http://identifiers.org/clinvar/228379 ^@ NM_000260.3(MYO7A):c.4555delG (p.Val1519Cysfs) http://identifiers.org/clinvar/228429 ^@ NM_005159.4(ACTC1):c.217A>G (p.Ile73Val) http://identifiers.org/clinvar/227979 ^@ NM_001199107.1(TBC1D24):c.1545G>A (p.Ala515=) http://identifiers.org/clinvar/228629 ^@ NM_001943.4(DSG2):c.1525G>A (p.Asp509Asn) http://identifiers.org/clinvar/229029 ^@ NM_003803.3(MYOM1):c.476_479delTTAA (p.Ile159Lysfs) http://identifiers.org/clinvar/228829 ^@ NM_144612.6(LOXHD1):c.4757G>T (p.Arg1586Leu) http://identifiers.org/clinvar/228879 ^@ NM_001145809.1(MYH14):c.5345+6T>C http://identifiers.org/clinvar/228929 ^@ NM_002473.5(MYH9):c.519-6T>G http://identifiers.org/clinvar/228029 ^@ NM_001039141.2(TRIOBP):c.409A>G (p.Ser137Gly) http://identifiers.org/clinvar/228579 ^@ NM_004006.2(DMD):c.1248A>T (p.Glu416Asp) http://identifiers.org/clinvar/228279 ^@ NM_000260.3(MYO7A):c.1619C>A (p.Pro540His) http://identifiers.org/clinvar/228779 ^@ NM_002290.4(LAMA4):c.1530+4C>T http://identifiers.org/clinvar/234786 ^@ NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val) http://identifiers.org/clinvar/230070 ^@ NM_003000.2(SDHB):c.587G>A (p.Cys196Tyr) http://identifiers.org/clinvar/231570 ^@ NM_001128425.1(MUTYH):c.1153G>T (p.Ala385Ser) http://identifiers.org/clinvar/230670 ^@ NM_001128425.1(MUTYH):c.1138C>G (p.Pro380Ala) http://identifiers.org/clinvar/233460 ^@ NM_001128425.1(MUTYH):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/231020 ^@ NM_001128425.1(MUTYH):c.542C>T (p.Ser181Phe) http://identifiers.org/clinvar/233660 ^@ NM_000465.3(BARD1):c.2181T>G (p.Asp727Glu) http://identifiers.org/clinvar/231220 ^@ NM_000251.2(MSH2):c.-68-240A>T http://identifiers.org/clinvar/232810 ^@ NM_000251.2(MSH2):c.1012G>C (p.Gly338Arg) http://identifiers.org/clinvar/232660 ^@ NM_000251.2(MSH2):c.1327C>G (p.Leu443Val) http://identifiers.org/clinvar/230720 ^@ NM_000251.2(MSH2):c.2206C>T (p.Leu736Phe) http://identifiers.org/clinvar/233410 ^@ NM_000179.2(MSH6):c.2072_2073delTCinsATTA (p.Leu691Hisfs) http://identifiers.org/clinvar/232760 ^@ NM_000179.2(MSH6):c.3440C>T (p.Ala1147Val) http://identifiers.org/clinvar/230870 ^@ NM_000179.2(MSH6):c.3882delT (p.Pro1295Leufs) http://identifiers.org/clinvar/229920 ^@ NM_000249.3(MLH1):c.-199C>T http://identifiers.org/clinvar/231120 ^@ NM_000249.3(MLH1):c.987C>T (p.His329=) http://identifiers.org/clinvar/233010 ^@ NM_000038.5(APC):c.1999C>T (p.Gln667Ter) http://identifiers.org/clinvar/263845 ^@ NM_000138.4:c.1415G>A http://identifiers.org/clinvar/264971 ^@ NM_000059.3(BRCA2):c.7805+561dup http://identifiers.org/clinvar/265381 ^@ NM_018136.4(ASPM):c.6337_6338delAT (p.Ile2113Serfs) http://identifiers.org/clinvar/265023 ^@ NM_000016.5(ACADM):c.131A>G (p.Gln44Arg) http://identifiers.org/clinvar/265126 ^@ NM_000127.2(EXT1):c.803G>A (p.Gly268Glu) http://identifiers.org/clinvar/265431 ^@ NM_000141.4(FGFR2):c.833G>T (p.Cys278Phe) http://identifiers.org/clinvar/265582 ^@ NM_000051.3(ATM):c.8564delG (p.Ser2855Metfs) http://identifiers.org/clinvar/265481 ^@ NM_004004.5(GJB2):c.506G>A (p.Cys169Tyr) http://identifiers.org/clinvar/265076 ^@ NM_014985.3(CEP152):c.2038C>T (p.Gln680Ter) http://identifiers.org/clinvar/265281 ^@ NM_000548.4(TSC2):c.4747G>A (p.Glu1583Lys) http://identifiers.org/clinvar/265632 ^@ NM_024675.3(PALB2):c.487_488delGT (p.Val163Leufs) http://identifiers.org/clinvar/265531 ^@ NM_004287.4(GOSR2):c.29+1G>A http://identifiers.org/clinvar/265228 ^@ NM_000227.4(LAMA3):c.3609+1G>A http://identifiers.org/clinvar/265176 ^@ NM_000557.4(GDF5):c.1448A>G (p.Asn483Ser) http://identifiers.org/clinvar/265331 ^@ NM_006031.5(PCNT):c.1843C>T (p.Gln615Ter) http://identifiers.org/clinvar/265682 ^@ NM_001184880.1(PCDH19):c.2849-2A>G http://identifiers.org/clinvar/265767 ^@ NM_006766.4(KAT6A):c.5525C>G (p.Thr1842Arg) http://identifiers.org/clinvar/265921 ^@ NM_174936.3(PCSK9):c.400-94G>A http://identifiers.org/clinvar/265871 ^@ NM_000384.2(APOB):c.-115C>G http://identifiers.org/clinvar/265976 ^@ NP_003602.1:p.Ser620Cysfs*8 http://identifiers.org/clinvar/266027 ^@ NM_005859.4(PURA):c.710C>T (p.Ser237Phe) http://identifiers.org/clinvar/266103 ^@ NM_014714.3(IFT140):c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) http://identifiers.org/clinvar/266953 ^@ NM_000059.3(BRCA2):c.6502G>T (p.Gly2168Ter) http://identifiers.org/clinvar/266503 ^@ NM_007294.3(BRCA1):c.4887_4893delAGAAAGT (p.Glu1630Terfs) http://identifiers.org/clinvar/266453 ^@ NM_007294.3(BRCA1):c.4162_4163delCA (p.Gln1388Glufs) http://identifiers.org/clinvar/266403 ^@ NM_007294.3(BRCA1):c.3750delG (p.Glu1250Aspfs) http://identifiers.org/clinvar/266353 ^@ NM_007294.3(BRCA1):c.3308_3309insC (p.Lys1104Terfs) http://identifiers.org/clinvar/266303 ^@ NM_007294.3(BRCA1):c.2778dupT (p.Ala927Cysfs) http://identifiers.org/clinvar/266253 ^@ NM_007294.3(BRCA1):c.2361delA (p.Val788Leufs) http://identifiers.org/clinvar/266203 ^@ NM_007294.3(BRCA1):c.1938_1945delCAGTGAAG (p.Ser646Argfs) http://identifiers.org/clinvar/266153 ^@ NM_007294.3(BRCA1):c.1277C>G (p.Ser426Ter) http://identifiers.org/clinvar/268093 ^@ NM_000044.4(AR):c.1685T>C (p.Ile562Thr) http://identifiers.org/clinvar/268147 ^@ NM_005506.3(SCARB2):c.1385_1390delGATCCAinsATGCATGCACC (p.Gly462Aspfs) http://identifiers.org/clinvar/273671 ^@ NM_005465.4(AKT3):c.548T>A (p.Val183Asp) http://identifiers.org/clinvar/280150 ^@ NM_006912.5(RIT1):c.634C>T (p.Arg212Trp) http://identifiers.org/clinvar/290881 ^@ NM_182961.3(SYNE1):c.1708T>C (p.Tyr570His) http://identifiers.org/clinvar/290932 ^@ NM_004369.3(COL6A3):c.2909C>G (p.Pro970Arg) http://identifiers.org/clinvar/290982 ^@ NM_001038.5(SCNN1A):c.54A>T (p.Pro18=) http://identifiers.org/clinvar/291032 ^@ NM_024408.3(NOTCH2):c.6703A>G (p.Ser2235Gly) http://identifiers.org/clinvar/291082 ^@ NM_006920.4(SCN1A):c.1696C>T (p.Pro566Ser) http://identifiers.org/clinvar/291132 ^@ NM_001165928.3(DAG1):c.1848G>A (p.Pro616=) http://identifiers.org/clinvar/291183 ^@ NM_000181.3(GUSB):c.959A>C (p.Tyr320Ser) http://identifiers.org/clinvar/291233 ^@ NM_022039.3(FBXW4):c.460C>T (p.Arg154Trp) http://identifiers.org/clinvar/291283 ^@ NM_001165927.1(MKS1):c.1243+6C>T http://identifiers.org/clinvar/291398 ^@ NM_001918.3(DBT):c.*5877G>C http://identifiers.org/clinvar/291448 ^@ NM_001918.3(DBT):c.*470G>A http://identifiers.org/clinvar/291498 ^@ NM_001854.3(COL11A1):c.4627A>C (p.Ile1543Leu) http://identifiers.org/clinvar/291740 ^@ NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) http://identifiers.org/clinvar/291790 ^@ NM_006610.3(MASP2):c.891G>A (p.Ala297=) http://identifiers.org/clinvar/291940 ^@ NM_002524.4(NRAS):c.*3404T>C http://identifiers.org/clinvar/291640 ^@ NM_015074.3(KIF1B):c.*3154A>G http://identifiers.org/clinvar/291690 ^@ NM_013296.4(GPSM2):c.-469C>G http://identifiers.org/clinvar/291840 ^@ NM_003051.3(SLC16A1):c.*969dupT http://identifiers.org/clinvar/291890 ^@ NM_013319.2(UBIAD1):c.*1010C>T http://identifiers.org/clinvar/291990 ^@ NM_002506.2(NGF):c.335C>G (p.Pro112Arg) http://identifiers.org/clinvar/292040 ^@ NM_138959.2(VANGL1):c.*1627A>G http://identifiers.org/clinvar/294389 ^@ NM_003748.3(ALDH4A1):c.433G>A (p.Ala145Thr) http://identifiers.org/clinvar/294439 ^@ NM_024529.4(CDC73):c.*1787A>G http://identifiers.org/clinvar/294489 ^@ NM_000186.3(CFH):c.1160-15T>C http://identifiers.org/clinvar/294539 ^@ NM_030787.3(CFHR5):c.429T>C (p.Thr143=) http://identifiers.org/clinvar/294589 ^@ NM_018136.4(ASPM):c.*145T>G http://identifiers.org/clinvar/294639 ^@ NM_018136.4(ASPM):c.3566C>T (p.Ser1189Phe) http://identifiers.org/clinvar/294739 ^@ NM_000069.2(CACNA1S):c.2754G>A (p.Val918=) http://identifiers.org/clinvar/294789 ^@ NM_000069.2(CACNA1S):c.-83C>T http://identifiers.org/clinvar/294939 ^@ NM_003465.2(CHIT1):c.56-6G>A http://identifiers.org/clinvar/294839 ^@ NM_001005337.2(PKP1):c.*301A>C http://identifiers.org/clinvar/335895 ^@ NM_001011.3(RPS7):c.-47G>T http://identifiers.org/clinvar/344481 ^@ NM_015560.2(OPA1):c.544T>C (p.Phe182Leu) http://identifiers.org/clinvar/344631 ^@ NM_000461.4(THRB):c.*361G>A http://identifiers.org/clinvar/343781 ^@ NM_000096.3(CP):c.850T>C (p.Tyr284His) http://identifiers.org/clinvar/343831 ^@ NM_005677.3(COLQ):c.*993C>T http://identifiers.org/clinvar/343881 ^@ NM_004733.3(SLC33A1):c.327A>G (p.Gln109=) http://identifiers.org/clinvar/343981 ^@ NM_020800.2(IFT80):c.370+6T>C http://identifiers.org/clinvar/344581 ^@ NM_000461.4(THRB):c.*3020G>T http://identifiers.org/clinvar/337091 ^@ NM_004082.4(DCTN1):c.1065A>T (p.Ala355=) http://identifiers.org/clinvar/345770 ^@ NM_033629.4(TREX1):c.-60C>T http://identifiers.org/clinvar/345870 ^@ NM_000094.3(COL7A1):c.1628G>A (p.Ser543Asn) http://identifiers.org/clinvar/345970 ^@ NM_002292.3(LAMB2):c.*92A>G http://identifiers.org/clinvar/346170 ^@ NM_052859.3(RFT1):c.*799T>A http://identifiers.org/clinvar/337641 ^@ NM_001079.3(ZAP70):c.*161G>A http://identifiers.org/clinvar/346570 ^@ NM_032682.5(FOXP1):c.*3403delT http://identifiers.org/clinvar/345470 ^@ NM_024513.3(FYCO1):c.*1303C>G http://identifiers.org/clinvar/345720 ^@ NM_002222.5(ITPR1):c.2985A>G (p.Ser995=) http://identifiers.org/clinvar/345670 ^@ NM_015175.2(NBEAL2):c.5103C>T (p.Phe1701=) http://identifiers.org/clinvar/346070 ^@ NM_144499.2(GNAT1):c.*1427A>G http://identifiers.org/clinvar/346120 ^@ NM_004656.3(BAP1):c.1202_1203delAT (p.Tyr401Terfs) http://identifiers.org/clinvar/346220 ^@ NM_003392.4(WNT5A):c.*3195delC http://identifiers.org/clinvar/346270 ^@ NM_003392.4(WNT5A):c.110C>G (p.Ala37Gly) http://identifiers.org/clinvar/347709 ^@ NM_000901.4(NR3C2):c.*592G>A http://identifiers.org/clinvar/346370 ^@ NM_001457.3(FLNB):c.*255G>C http://identifiers.org/clinvar/346420 ^@ NM_198859.3(PRICKLE2):c.*4330A>T http://identifiers.org/clinvar/346520 ^@ NM_000248.3(MITF):c.*1101G>A http://identifiers.org/clinvar/348209 ^@ NM_000860.5(HPGD):c.-221G>A http://identifiers.org/clinvar/348159 ^@ NM_000320.2(QDPR):c.271G>T (p.Ala91Ser) http://identifiers.org/clinvar/362025 ^@ NM_006096.3(NDRG1):c.*264C>G http://identifiers.org/clinvar/358426 ^@ NM_005045.3(RELN):c.-18_-1dup18 http://identifiers.org/clinvar/358576 ^@ NM_000108.4(DLD):c.*225C>T http://identifiers.org/clinvar/359026 ^@ NM_020632.2(ATP6V0A4):c.755C>G (p.Pro252Arg) http://identifiers.org/clinvar/363014 ^@ NM_000037.3(ANK1):c.2601T>C (p.Pro867=) http://identifiers.org/clinvar/359426 ^@ NM_022458.3(LMBR1):c.770C>T (p.Ser257Leu) http://identifiers.org/clinvar/363564 ^@ NM_024596.4(MCPH1):c.*38C>G http://identifiers.org/clinvar/363614 ^@ NM_020361.4(CPA6):c.98A>G (p.Tyr33Cys) http://identifiers.org/clinvar/363864 ^@ NM_019098.4(CNGB3):c.*84C>T http://identifiers.org/clinvar/363964 ^@ NM_018444.3(PDP1):c.*1564C>A http://identifiers.org/clinvar/361115 ^@ NM_017890.4(VPS13B):c.*1106_*1108dupGAT http://identifiers.org/clinvar/355837 ^@ NM_033071.3(SYNE1):c.20528A>C (p.His6843Pro) http://identifiers.org/clinvar/355637 ^@ NM_003764.3(STX11):c.*2592C>T http://identifiers.org/clinvar/355937 ^@ NM_033071.3(SYNE1):c.2222C>G (p.Pro741Arg) http://identifiers.org/clinvar/355737 ^@ NM_203395.2(IYD):c.*2472T>A http://identifiers.org/clinvar/360515 ^@ NM_004577.3(PSPH):c.81A>T (p.Arg27Ser) http://identifiers.org/clinvar/355787 ^@ NM_203395.2(IYD):c.*6055G>A http://identifiers.org/clinvar/355887 ^@ NM_033071.3(SYNE1):c.10936A>C (p.Arg3646=) http://identifiers.org/clinvar/360915 ^@ NM_000466.2(PEX1):c.3373A>T (p.Met1125Leu) http://identifiers.org/clinvar/365253 ^@ NM_054012.3(ASS1):c.333C>T (p.Ala111=) http://identifiers.org/clinvar/356237 ^@ NM_000434.3(NEU1):c.-40T>G http://identifiers.org/clinvar/356387 ^@ NM_080680.2(COL11A2):c.3883G>A (p.Glu1295Lys) http://identifiers.org/clinvar/356687 ^@ NM_000409.4(GUCA1A):c.-388C>A http://identifiers.org/clinvar/356537 ^@ NM_182548.3(LHFPL5):c.*511_*512insTC http://identifiers.org/clinvar/356737 ^@ NM_002098.5(GUCA1B):c.87G>A (p.Val29=) http://identifiers.org/clinvar/356787 ^@ NM_000287.3(PEX6):c.*407T>G http://identifiers.org/clinvar/356837 ^@ NM_014780.4(CUL7):c.2693C>G (p.Ser898Trp) http://identifiers.org/clinvar/361466 ^@ NM_001715.2(BLK):c.-209C>T http://identifiers.org/clinvar/361575 ^@ NM_014112.4(TRPS1):c.*2229G>A http://identifiers.org/clinvar/361625 ^@ NM_014112.4(TRPS1):c.1083C>T (p.Thr361=) http://identifiers.org/clinvar/365904 ^@ NM_006412.3(AGPAT2):c.*442C>G http://identifiers.org/clinvar/366004 ^@ NM_024757.4(EHMT1):c.1181A>C (p.Glu394Ala) http://identifiers.org/clinvar/311354 ^@ NM_004004.5(GJB2):c.*1206T>G http://identifiers.org/clinvar/311404 ^@ NM_002010.2(FGF9):c.-726C>T http://identifiers.org/clinvar/367343 ^@ NM_033305.2(VPS13A):c.159A>G (p.Val53=) http://identifiers.org/clinvar/367493 ^@ NM_004560.3(ROR2):c.*172_*175delAGAG http://identifiers.org/clinvar/367543 ^@ NM_006415.3(SPTLC1):c.1255-7C>T http://identifiers.org/clinvar/311754 ^@ NM_015087.4(SPG20):c.*734T>C http://identifiers.org/clinvar/367643 ^@ NM_000264.3(PTCH1):c.*1545T>C http://identifiers.org/clinvar/303895 ^@ NM_181507.1(HPS5):c.825-14delT http://identifiers.org/clinvar/312104 ^@ NM_207361.5(FREM2):c.*5562C>G http://identifiers.org/clinvar/364214 ^@ NM_033087.3(ALG2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/312204 ^@ NM_014252.3(SLC25A15):c.*1641G>T http://identifiers.org/clinvar/312254 ^@ NM_003850.2(SUCLA2):c.*661C>A http://identifiers.org/clinvar/367593 ^@ NM_000136.2(FANCC):c.*983C>T http://identifiers.org/clinvar/364114 ^@ NM_004612.3(TGFBR1):c.*1223A>G http://identifiers.org/clinvar/298917 ^@ NM_004132.4(HABP2):c.1156C>T (p.His386Tyr) http://identifiers.org/clinvar/312843 ^@ NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys) http://identifiers.org/clinvar/312893 ^@ NM_000257.3(MYH7):c.4908C>T (p.Ala1636=) http://identifiers.org/clinvar/304495 ^@ NM_000448.2(RAG1):c.577G>A (p.Glu193Lys) http://identifiers.org/clinvar/298967 ^@ NM_004281.3(BAG3):c.*243_*245delGTT http://identifiers.org/clinvar/313043 ^@ NM_025152.2(NUBPL):c.*638C>G http://identifiers.org/clinvar/313093 ^@ NM_021914.7(CFL2):c.*293G>A http://identifiers.org/clinvar/299017 ^@ NM_000141.4(FGFR2):c.-165G>A http://identifiers.org/clinvar/304545 ^@ NM_000536.3(RAG2):c.*144G>T http://identifiers.org/clinvar/304595 ^@ NM_207122.1(EXT2):c.*3C>T http://identifiers.org/clinvar/313193 ^@ NM_020937.3(FANCM):c.527C>T (p.Thr176Ile) http://identifiers.org/clinvar/304795 ^@ NM_004813.2(PEX16):c.360-7G>A http://identifiers.org/clinvar/313593 ^@ NM_182914.2(SYNE2):c.13917+10C>T http://identifiers.org/clinvar/304895 ^@ NM_002334.3(LRP4):c.813G>A (p.Thr271=) http://identifiers.org/clinvar/299417 ^@ NM_001081.3(CUBN):c.7798G>A (p.Glu2600Lys) http://identifiers.org/clinvar/304995 ^@ NM_004551.2(NDUFS3):c.381+5G>T http://identifiers.org/clinvar/313693 ^@ NM_182914.2(SYNE2):c.*827G>A http://identifiers.org/clinvar/299567 ^@ NM_201590.2(CACNB2):c.1774C>T (p.Arg592Trp) http://identifiers.org/clinvar/305197 ^@ NM_000543.4(SMPD1):c.349G>A (p.Val117Met) http://identifiers.org/clinvar/314093 ^@ NM_031427.3(DNAL1):c.*4456G>T http://identifiers.org/clinvar/305297 ^@ NM_130799.2(MEN1):c.*560G>T http://identifiers.org/clinvar/305347 ^@ NM_032193.3(RNASEH2C):c.*541C>T http://identifiers.org/clinvar/299767 ^@ NM_014915.2(ANKRD26):c.-4G>A http://identifiers.org/clinvar/314243 ^@ NM_000428.2(LTBP2):c.*2266G>A http://identifiers.org/clinvar/300067 ^@ NM_000124.3(ERCC6):c.2390C>G (p.Ser797Cys) http://identifiers.org/clinvar/299717 ^@ NM_014915.2(ANKRD26):c.*904C>A http://identifiers.org/clinvar/299917 ^@ NM_020975.4(RET):c.*599dupT http://identifiers.org/clinvar/299967 ^@ NM_002900.2(RBP3):c.2270T>G (p.Val757Gly) http://identifiers.org/clinvar/300017 ^@ NM_000124.3(ERCC6):c.*977A>G http://identifiers.org/clinvar/300717 ^@ NM_016065.3(MRPS16):c.275-5T>G http://identifiers.org/clinvar/315882 ^@ NM_016013.3(NDUFAF1):c.-205G>C http://identifiers.org/clinvar/300217 ^@ NM_000417.2(IL2RA):c.*1702C>T http://identifiers.org/clinvar/311054 ^@ NM_001845.5(COL4A1):c.2262C>T (p.Pro754=) http://identifiers.org/clinvar/329155 ^@ NM_033064.4(ATCAY):c.*193delT http://identifiers.org/clinvar/311154 ^@ NM_001846.3(COL4A2):c.3087C>T (p.Pro1029=) http://identifiers.org/clinvar/317772 ^@ NM_004862.3(LITAF):c.*439G>A http://identifiers.org/clinvar/311504 ^@ NM_014363.5(SACS):c.11928T>C (p.Ser3976=) http://identifiers.org/clinvar/311604 ^@ NM_018451.4(CENPJ):c.*124G>A http://identifiers.org/clinvar/311654 ^@ NM_015972.3(POLR1D):c.*49C>T http://identifiers.org/clinvar/311904 ^@ NM_001127217.2(SMAD9):c.434C>A (p.Pro145Gln) http://identifiers.org/clinvar/337741 ^@ NM_000214.2(JAG1):c.*21C>T http://identifiers.org/clinvar/337841 ^@ NM_024411.4(PDYN):c.-42A>T http://identifiers.org/clinvar/310954 ^@ NM_002312.3(LIG4):c.*677A>G http://identifiers.org/clinvar/311004 ^@ NM_001845.5(COL4A1):c.*1039A>G http://identifiers.org/clinvar/338041 ^@ NM_033118.3(MYLK2):c.60A>G (p.Ala20=) http://identifiers.org/clinvar/311204 ^@ NM_001846.3(COL4A2):c.*413_*414delAG http://identifiers.org/clinvar/311254 ^@ NM_000131.4(F7):c.*909C>T http://identifiers.org/clinvar/338391 ^@ NM_005461.4(MAFB):c.*1019A>G http://identifiers.org/clinvar/311454 ^@ NM_002010.2(FGF9):c.*1094C>T http://identifiers.org/clinvar/338591 ^@ NM_030777.3(SLC2A10):c.330C>T (p.Phe110=) http://identifiers.org/clinvar/311554 ^@ NM_014363.5(SACS):c.2681C>T (p.Ser894Leu) http://identifiers.org/clinvar/338892 ^@ NM_002591.3(PCK1):c.1644C>G (p.Ala548=) http://identifiers.org/clinvar/311704 ^@ NM_004795.3(KL):c.2572T>A (p.Trp858Arg) http://identifiers.org/clinvar/313293 ^@ NM_015915.4(ATL1):c.408T>C (p.Asp136=) http://identifiers.org/clinvar/311854 ^@ NM_001127217.2(SMAD9):c.*1696G>A http://identifiers.org/clinvar/313543 ^@ NM_182914.2(SYNE2):c.9366A>G (p.Gln3122=) http://identifiers.org/clinvar/312004 ^@ NM_207361.5(FREM2):c.6273G>A (p.Ala2091=) http://identifiers.org/clinvar/313743 ^@ NM_000347.5(SPTB):c.2979C>G (p.Ile993Met) http://identifiers.org/clinvar/313843 ^@ NM_152443.2(RDH12):c.748C>T (p.Leu250Phe) http://identifiers.org/clinvar/321524 ^@ NM_000833.4(GRIN2A):c.*5775T>A http://identifiers.org/clinvar/314143 ^@ NM_031427.3(DNAL1):c.*7050G>A http://identifiers.org/clinvar/326416 ^@ NM_177986.4(DSG4):c.30C>T (p.Cys10=) http://identifiers.org/clinvar/326766 ^@ NM_015559.2(SETBP1):c.*745dupT http://identifiers.org/clinvar/326816 ^@ NM_015559.2(SETBP1):c.*4240T>C http://identifiers.org/clinvar/326866 ^@ NM_144612.6(LOXHD1):c.1875T>C (p.Asp625=) http://identifiers.org/clinvar/326916 ^@ NM_017653.3(DYM):c.-243C>T http://identifiers.org/clinvar/367993 ^@ NM_001011658.3(TRAPPC2):c.*263dupT http://identifiers.org/clinvar/328955 ^@ NM_032753.3(RAX2):c.*720G>A http://identifiers.org/clinvar/329005 ^@ NM_000540.2(RYR1):c.3021C>T (p.Ser1007=) http://identifiers.org/clinvar/327316 ^@ NM_000140.3(FECH):c.*5628C>A http://identifiers.org/clinvar/329105 ^@ NM_000540.2(RYR1):c.11193+15C>G http://identifiers.org/clinvar/329255 ^@ NM_181882.2(PRX):c.3702C>T (p.Gly1234=) http://identifiers.org/clinvar/329355 ^@ NM_030578.3(B9D2):c.-191C>T http://identifiers.org/clinvar/337691 ^@ NM_018848.3(MKKS):c.874C>T (p.Leu292=) http://identifiers.org/clinvar/337891 ^@ NM_000361.2(THBD):c.675C>T (p.Thr225=) http://identifiers.org/clinvar/338641 ^@ NM_000311.4(PRNP):c.-206C>G http://identifiers.org/clinvar/338792 ^@ NM_000782.4(CYP24A1):c.*1014C>T http://identifiers.org/clinvar/338842 ^@ NM_000782.4(CYP24A1):c.-50C>T http://identifiers.org/clinvar/339581 ^@ NM_000933.3(PLCB4):c.2599A>T (p.Ser867Cys) http://identifiers.org/clinvar/339781 ^@ NM_000219.5(KCNE1):c.-298C>T http://identifiers.org/clinvar/339831 ^@ NM_001754.4(RUNX1):c.*2467dupA http://identifiers.org/clinvar/339881 ^@ NM_001754.4(RUNX1):c.-89T>C http://identifiers.org/clinvar/339931 ^@ NM_000411.6(HLCS):c.*1852G>T http://identifiers.org/clinvar/340081 ^@ NM_000071.2(CBS):c.1357G>T (p.Gly453Trp) http://identifiers.org/clinvar/337941 ^@ NM_198994.2(TGM6):c.*31T>C http://identifiers.org/clinvar/338141 ^@ NM_015338.5(ASXL1):c.*1580T>C http://identifiers.org/clinvar/340281 ^@ NM_130445.3(COL18A1):c.*305C>T http://identifiers.org/clinvar/340331 ^@ NM_001848.2(COL6A1):c.*63_*64delAG http://identifiers.org/clinvar/340381 ^@ NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) http://identifiers.org/clinvar/338341 ^@ NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) http://identifiers.org/clinvar/338441 ^@ NM_000457.4(HNF4A):c.*393G>A http://identifiers.org/clinvar/340582 ^@ NM_014339.6(IL17RA):c.847-14C>G http://identifiers.org/clinvar/340632 ^@ NM_014339.6(IL17RA):c.*987G>A http://identifiers.org/clinvar/339631 ^@ NM_000484.3(APP):c.1840A>G (p.Ser614Gly) http://identifiers.org/clinvar/339681 ^@ NM_178817.3(MRAP):c.234C>G (p.Cys78Trp) http://identifiers.org/clinvar/339731 ^@ NM_000219.5(KCNE1):c.*2008G>A http://identifiers.org/clinvar/340031 ^@ NM_020639.2(RIPK4):c.360A>C (p.Arg120=) http://identifiers.org/clinvar/389572 ^@ NM_017617.4(NOTCH1):c.5718G>A (p.Ala1906=) http://identifiers.org/clinvar/392361 ^@ NM_000093.4(COL5A1):c.3900C>T (p.Gly1300=) http://identifiers.org/clinvar/385194 ^@ NM_001613.2(ACTA2):c.369+10C>A http://identifiers.org/clinvar/381649 ^@ NM_000136.2(FANCC):c.336C>T (p.Ser112=) http://identifiers.org/clinvar/387383 ^@ NM_014000.2(VCL):c.780C>T (p.Ser260=) http://identifiers.org/clinvar/390472 ^@ NM_000264.3(PTCH1):c.-14G>T http://identifiers.org/clinvar/378188 ^@ NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) http://identifiers.org/clinvar/385544 ^@ NM_005343.3(HRAS):c.450+18C>T http://identifiers.org/clinvar/378036 ^@ NM_004519.3(KCNQ3):c.1964C>T (p.Thr655Met) http://identifiers.org/clinvar/386533 ^@ NM_002485.4(NBN):c.1707C>T (p.Asp569=) http://identifiers.org/clinvar/386683 ^@ NM_002335.3(LRP5):c.2766C>T (p.Gly922=) http://identifiers.org/clinvar/378594 ^@ NM_024698.5(SLC25A22):c.609G>A (p.Val203=) http://identifiers.org/clinvar/381449 ^@ NM_032374.4(APOPT1):c.79C>A (p.Pro27Thr) http://identifiers.org/clinvar/390072 ^@ NM_021957.3(GYS2):c.1716T>C (p.Tyr572=) http://identifiers.org/clinvar/389472 ^@ NM_001844.4(COL2A1):c.3952G>A (p.Glu1318Lys) http://identifiers.org/clinvar/389722 ^@ NM_000059.3(BRCA2):c.4251T>C (p.Asn1417=) http://identifiers.org/clinvar/389972 ^@ NM_001271.3(CHD2):c.4999C>T (p.Gln1667Ter) http://identifiers.org/clinvar/387283 ^@ NM_000548.4(TSC2):c.1740A>C (p.Ala580=) http://identifiers.org/clinvar/383442 ^@ NM_000548.4(TSC2):c.3710C>T (p.Ala1237Val) http://identifiers.org/clinvar/387583 ^@ NM_005249.4(FOXG1):c.420C>T (p.Val140=) http://identifiers.org/clinvar/384744 ^@ NM_024675.3(PALB2):c.2587-5G>A http://identifiers.org/clinvar/392461 ^@ NM_021625.4(TRPV4):c.1491+8C>T http://identifiers.org/clinvar/378443 ^@ NM_002834.4(PTPN11):c.537C>T (p.Tyr179=) http://identifiers.org/clinvar/383342 ^@ NM_021098.2(CACNA1H):c.3362C>G (p.Pro1121Arg) http://identifiers.org/clinvar/377486 ^@ NM_013275.5(ANKRD11):c.3162A>G (p.Lys1054=) http://identifiers.org/clinvar/384544 ^@ NM_013227.3(ACAN):c.6019G>A (p.Asp2007Asn) http://identifiers.org/clinvar/384944 ^@ NM_000548.4(TSC2):c.4849+20C>T http://identifiers.org/clinvar/48100 ^@ NM_000503.5(EYA1):c.1185C>T (p.Asn395=) http://identifiers.org/clinvar/48150 ^@ NM_178335.2(CCDC50):c.1242+10G>A http://identifiers.org/clinvar/16 ^@ NM_000410.3(HFE):c.175G>A (p.Val59Met) http://identifiers.org/clinvar/110 ^@ NM_017849.3(TMEM127):c.149dupA (p.Pro51Alafs) http://identifiers.org/clinvar/174 ^@ NG_008861.1:g.(18210_19215)_(19282_19287)del http://identifiers.org/clinvar/238 ^@ NM_000398.6(CYB5R3):c.734-1G>T http://identifiers.org/clinvar/362 ^@ NM_000267.3(NF1):c.5406dupT (p.Ile1803Tyrfs) http://identifiers.org/clinvar/390 ^@ NM_000405.4(GM2A):c.412T>C (p.Cys138Arg) http://identifiers.org/clinvar/422 ^@ NM_199074.1(NDUFAF3):c.58G>C (p.Gly20Arg) http://identifiers.org/clinvar/512 ^@ NM_020475.2(ANK1):c.-153G>A http://identifiers.org/clinvar/590 ^@ NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) http://identifiers.org/clinvar/803 ^@ NM_000038.5(APC):c.3199C>T (p.Gln1067Ter) http://identifiers.org/clinvar/835 ^@ NM_000038.5(APC):c.423-1G>A http://identifiers.org/clinvar/858 ^@ NM_013319.2(UBIAD1):c.355A>G (p.Arg119Gly) http://identifiers.org/clinvar/1109 ^@ NM_025137.3(SPG11):c.6100C>T (p.Arg2034Ter) http://identifiers.org/clinvar/1141 ^@ STRA6, 2-BP INS, 277CC http://identifiers.org/clinvar/1187 ^@ NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) http://identifiers.org/clinvar/1231 ^@ NM_152419.2(HGSNAT):c.1345dupG (p.Asp449Glyfs) http://identifiers.org/clinvar/1282 ^@ NM_173660.4(DOK7):c.1378dupC (p.Gln460Profs) http://identifiers.org/clinvar/1327 ^@ NM_012073.4(CCT5):c.440A>G (p.His147Arg) http://identifiers.org/clinvar/1372 ^@ TMEM67, IVS23+5G-C http://identifiers.org/clinvar/1418 ^@ NM_001041.3(SI):c.1730T>G (p.Val577Gly) http://identifiers.org/clinvar/1463 ^@ HMBS, 2-BP DEL, 218AG http://identifiers.org/clinvar/1509 ^@ NM_000298.5(PKLR):c.1261C>A (p.Gln421Lys) http://identifiers.org/clinvar/1554 ^@ NM_000237.2(LPL):c.755T>C (p.Ile252Thr) http://identifiers.org/clinvar/1649 ^@ THAP1, 2-BP DEL, 388TC http://identifiers.org/clinvar/1694 ^@ LHFPL5, 1-BP DEL, 246C http://identifiers.org/clinvar/1790 ^@ NM_000102.3(CYP17A1):c.436+5G>T http://identifiers.org/clinvar/1835 ^@ NM_016065.3(MRPS16):c.331C>T (p.Arg111Ter) http://identifiers.org/clinvar/1880 ^@ NM_000255.3(MUT):c.278G>A (p.Arg93His) http://identifiers.org/clinvar/1925 ^@ NM_022132.4(MCCC2):c.1309A>G (p.Ile437Val) http://identifiers.org/clinvar/1970 ^@ NM_000022.3(ADA):c.466C>T (p.Arg156Cys) http://identifiers.org/clinvar/2242 ^@ NM_000433.3(NCF2):c.1171_1175delAAGCT (p.Lys391Glufs) http://identifiers.org/clinvar/2288 ^@ NM_015046.5(SETX):c.994C>T (p.Arg332Trp) http://identifiers.org/clinvar/2333 ^@ NM_033071.3(SYNE1):c.25015G>T (p.Val8339Leu) http://identifiers.org/clinvar/3202 ^@ FKTN, L1 INS http://identifiers.org/clinvar/3250 ^@ NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) http://identifiers.org/clinvar/3297 ^@ NM_000268.3(NF2):c.185T>C (p.Phe62Ser) http://identifiers.org/clinvar/3341 ^@ NM_000348.3(SRD5A2):c.547G>A (p.Gly183Ser) http://identifiers.org/clinvar/10140 ^@ NM_000132.3(F8):c.5821A>G (p.Asn1941Asp) http://identifiers.org/clinvar/10186 ^@ NM_000132.3(F8):c.822G>A (p.Trp274Ter) http://identifiers.org/clinvar/10230 ^@ NM_000132.3(F8):c.1750C>A (p.Gln584Lys) http://identifiers.org/clinvar/10276 ^@ NM_000132.3(F8):c.5398C>G (p.Arg1800Gly) http://identifiers.org/clinvar/10320 ^@ NM_000132.3(F8):c.6545G>A (p.Arg2182His) http://identifiers.org/clinvar/10367 ^@ NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) http://identifiers.org/clinvar/10954 ^@ NM_000475.4(NR0B1):c.513G>A (p.Trp171Ter) http://identifiers.org/clinvar/11044 ^@ NM_001399.4(EDA):c.193C>G (p.Arg65Gly) http://identifiers.org/clinvar/11134 ^@ WAS, 1-BP DEL, 758A http://identifiers.org/clinvar/11180 ^@ EMD, 5-BP DEL, NT631 http://identifiers.org/clinvar/11225 ^@ NM_004006.2(DMD):c.433C>T (p.Arg145Ter) http://identifiers.org/clinvar/11270 ^@ NM_004006.2(DMD):c.9197C>A (p.Ser3066Ter) http://identifiers.org/clinvar/12178 ^@ CYP21A2, 1-BP INS, 1003A http://identifiers.org/clinvar/12230 ^@ ATP6V1B1, IVS12DS, G-C, +1 http://identifiers.org/clinvar/12281 ^@ NM_000463.2(UGT1A1):c.1456T>G (p.Tyr486Asp) http://identifiers.org/clinvar/12333 ^@ TH, -70G-A http://identifiers.org/clinvar/12384 ^@ NM_000546.5(TP53):c.854A>T (p.Glu285Val) http://identifiers.org/clinvar/12435 ^@ NM_003282.3(TNNI2):c.521G>A (p.Arg174Gln) http://identifiers.org/clinvar/12486 ^@ NM_000359.2(TGM1):c.1135G>C (p.Val379Leu) http://identifiers.org/clinvar/12536 ^@ NM_001128177.1(THRB):c.1020G>C (p.Gln340His) http://identifiers.org/clinvar/12586 ^@ NM_004985.4(KRAS):c.178G>C (p.Gly60Arg) http://identifiers.org/clinvar/12637 ^@ HNF1B, 5-BP DEL http://identifiers.org/clinvar/12688 ^@ TSHB, IVS2, G-A, +5 http://identifiers.org/clinvar/12739 ^@ CCL5, -28C-G http://identifiers.org/clinvar/12789 ^@ SDHB, IVS1DS, G-T, +1 http://identifiers.org/clinvar/12839 ^@ NM_001024858.2(SPTB):c.6074T>G (p.Leu2025Arg) http://identifiers.org/clinvar/12890 ^@ NM_006920.4(SCN1A):c.2923C>T (p.Leu975Phe) http://identifiers.org/clinvar/12940 ^@ NM_003124.4(SPR):c.448_452delAGAAC (p.Thr151Glyfs) http://identifiers.org/clinvar/12991 ^@ NM_000540.2(RYR1):c.10343C>T (p.Ser3448Phe) http://identifiers.org/clinvar/13042 ^@ NM_000539.3(RHO):c.44A>G (p.Asn15Ser) http://identifiers.org/clinvar/13093 ^@ NM_000321.2(RB1):c.607+1G>T http://identifiers.org/clinvar/13143 ^@ NM_000448.2(RAG1):c.1682G>A (p.Arg561His) http://identifiers.org/clinvar/13195 ^@ PYCR1, 1-BP DEL, 11G http://identifiers.org/clinvar/13245 ^@ NM_002739.4(PRKCG):c.355T>C (p.Ser119Pro) http://identifiers.org/clinvar/13296 ^@ NM_000141.4(FGFR2):c.1942G>A (p.Ala648Thr) http://identifiers.org/clinvar/13347 ^@ PTPN11, 11-BP DEL, NT514 http://identifiers.org/clinvar/13401 ^@ NM_000311.4(PRNP):c.593T>C (p.Phe198Ser) http://identifiers.org/clinvar/36677 ^@ NM_000444.5(PHEX):c.318G>A (p.Trp106Ter) http://identifiers.org/clinvar/36731 ^@ NM_001035.2(RYR2):c.11557+19C>T http://identifiers.org/clinvar/36782 ^@ NM_000349.2(STAR):c.135delT (p.Ser46Alafs) http://identifiers.org/clinvar/36832 ^@ NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly) http://identifiers.org/clinvar/36882 ^@ NM_000363.4(TNNI3):c.549+68_549+69insGCCTAG http://identifiers.org/clinvar/36950 ^@ NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) http://identifiers.org/clinvar/37045 ^@ NM_152424.3(AMER1):c.1267delC (p.Leu423Trpfs) http://identifiers.org/clinvar/37113 ^@ SEPT12, 474G-A http://identifiers.org/clinvar/37248 ^@ KCNV2, 1-BP INS, 357C http://identifiers.org/clinvar/37323 ^@ NM_006282.3(STK4):c.349C>T (p.Arg117Ter) http://identifiers.org/clinvar/37408 ^@ NM_007294.3(BRCA1):c.1387_1390delAAAAins5 http://identifiers.org/clinvar/37460 ^@ NM_007294.3(BRCA1):c.2281G>A (p.Glu761Lys) http://identifiers.org/clinvar/37515 ^@ NM_007294.3(BRCA1):c.3209C>G (p.Ala1070Gly) http://identifiers.org/clinvar/37570 ^@ NM_007294.3(BRCA1):c.4120_4121delAG (p.Ser1374Terfs) http://identifiers.org/clinvar/37994 ^@ NM_000059.3(BRCA2):c.5764G>C (p.Ala1922Pro) http://identifiers.org/clinvar/38046 ^@ NM_000059.3(BRCA2):c.6444dupT (p.Ile2149Tyrfs) http://identifiers.org/clinvar/39488 ^@ NM_004826.3(ECEL1):c.716dupA (p.Tyr239Terfs) http://identifiers.org/clinvar/39538 ^@ NM_001139.2(ALOX12B):c.340C>T (p.Arg114Trp) http://identifiers.org/clinvar/39588 ^@ NM_002609.3(PDGFRB):c.1973T>C (p.Leu658Pro) http://identifiers.org/clinvar/39640 ^@ NM_144577.3(CCDC114):c.1391+5G>A http://identifiers.org/clinvar/39692 ^@ HS6ST1, ARG313GLN http://identifiers.org/clinvar/39742 ^@ NM_001142617.1(STRA6):c.910_911delGGinsAA (p.Gly304Lys) http://identifiers.org/clinvar/39793 ^@ NM_001083614.1(EARS2):c.193A>G (p.Lys65Glu) http://identifiers.org/clinvar/39844 ^@ NM_005257.5(GATA6):c.1504_1505delAA (p.Lys502Aspfs) http://identifiers.org/clinvar/39994 ^@ NM_001291415.1(KDM6A):c.3510_3512delTCT (p.Leu1171del) http://identifiers.org/clinvar/40131 ^@ NM_000237.2(LPL):c.*1671T>C http://identifiers.org/clinvar/40251 ^@ NM_025099.5(CTC1):c.859C>T (p.Arg287Ter) http://identifiers.org/clinvar/40384 ^@ NM_004333.4(BRAF):c.1722C>G (p.His574Gln) http://identifiers.org/clinvar/40448 ^@ NM_005343.3(HRAS):c.520C>T (p.Pro174Ser) http://identifiers.org/clinvar/40516 ^@ NM_002834.4(PTPN11):c.525+12G>C http://identifiers.org/clinvar/40575 ^@ NM_002880.3(RAF1):c.-267G>A http://identifiers.org/clinvar/40638 ^@ NM_007373.3(SHOC2):c.1161+9A>G http://identifiers.org/clinvar/40722 ^@ NM_005633.3(SOS1):c.3269C>T (p.Pro1090Leu) http://identifiers.org/clinvar/40824 ^@ NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) http://identifiers.org/clinvar/40999 ^@ NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) http://identifiers.org/clinvar/41059 ^@ NM_003611.2(OFD1):c.111+3A>G http://identifiers.org/clinvar/41115 ^@ NM_003611.2(OFD1):c.382-2A>G http://identifiers.org/clinvar/41168 ^@ NM_003977.3(AIP):c.244_248delGAAGG (p.Glu82Glyfs) http://identifiers.org/clinvar/41221 ^@ NM_004562.2(PRKN):c.1138G>C (p.Val380Leu) http://identifiers.org/clinvar/51128 ^@ NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter) http://identifiers.org/clinvar/51179 ^@ NM_000059.3(BRCA2):c.171C>G (p.Tyr57Ter) http://identifiers.org/clinvar/51231 ^@ NM_000059.3(BRCA2):c.1951G>T (p.Asp651Tyr) http://identifiers.org/clinvar/51282 ^@ NM_000059.3(BRCA2):c.2429C>T (p.Thr810Ile) http://identifiers.org/clinvar/51333 ^@ NM_000059.3(BRCA2):c.2735C>T (p.Thr912Ile) http://identifiers.org/clinvar/51383 ^@ NM_000059.3(BRCA2):c.2990T>A (p.Leu997Ter) http://identifiers.org/clinvar/51433 ^@ NM_000059.3(BRCA2):c.3256A>G (p.Ile1086Val) http://identifiers.org/clinvar/51485 ^@ NM_000059.3(BRCA2):c.3554_3555delCA (p.Thr1185Serfs) http://identifiers.org/clinvar/51536 ^@ NM_000059.3(BRCA2):c.3837delT (p.Asn1279Lysfs) http://identifiers.org/clinvar/51588 ^@ NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) http://identifiers.org/clinvar/51640 ^@ NM_000059.3(BRCA2):c.4398_4402delACATT (p.Leu1466Phefs) http://identifiers.org/clinvar/51691 ^@ NM_000059.3(BRCA2):c.4658C>T (p.Thr1553Ile) http://identifiers.org/clinvar/51742 ^@ NM_000059.3(BRCA2):c.4926_4935delTGTAGAAAAA (p.Asn1642Lysfs) http://identifiers.org/clinvar/51794 ^@ NM_000059.3(BRCA2):c.5167A>G (p.Thr1723Ala) http://identifiers.org/clinvar/51846 ^@ NM_000059.3(BRCA2):c.5353_5354delAC (p.Thr1785Terfs) http://identifiers.org/clinvar/51898 ^@ NM_000059.3(BRCA2):c.5650_5659delATTTGCCAAA (p.Ile1884Argfs) http://identifiers.org/clinvar/51950 ^@ NM_000059.3(BRCA2):c.5839C>T (p.Pro1947Ser) http://identifiers.org/clinvar/52002 ^@ NM_000059.3(BRCA2):c.6071delA (p.Gln2024Argfs) http://identifiers.org/clinvar/52053 ^@ NM_000059.3(BRCA2):c.631+2T>C http://identifiers.org/clinvar/52754 ^@ NM_000059.3(BRCA2):c.9117+1G>A http://identifiers.org/clinvar/52805 ^@ NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) http://identifiers.org/clinvar/52856 ^@ NM_000059.3(BRCA2):c.9502-12T>G http://identifiers.org/clinvar/52906 ^@ NM_000059.3(BRCA2):c.9839C>A (p.Pro3280His) http://identifiers.org/clinvar/52956 ^@ NM_000218.2(KCNQ1):c.1097G>A (p.Arg366Gln) http://identifiers.org/clinvar/53006 ^@ NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) http://identifiers.org/clinvar/53056 ^@ NM_000218.2(KCNQ1):c.513C>G (p.Tyr171Ter) http://identifiers.org/clinvar/53106 ^@ NM_000218.2(KCNQ1):c.794C>T (p.Thr265Ile) http://identifiers.org/clinvar/53210 ^@ NM_000492.3(CFTR):c.1196C>A (p.Ala399Asp) http://identifiers.org/clinvar/53262 ^@ NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro) http://identifiers.org/clinvar/53313 ^@ NM_000492.3(CFTR):c.165-10T>G http://identifiers.org/clinvar/53363 ^@ NM_000492.3(CFTR):c.1735G>T (p.Asp579Tyr) http://identifiers.org/clinvar/53413 ^@ NM_000492.3(CFTR):c.1909C>T (p.Gln637Ter) http://identifiers.org/clinvar/53465 ^@ NM_000492.3(CFTR):c.2260G>A (p.Val754Met) http://identifiers.org/clinvar/53518 ^@ NM_000492.3(CFTR):c.2596T>C (p.Cys866Arg) http://identifiers.org/clinvar/53568 ^@ NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) http://identifiers.org/clinvar/53619 ^@ NM_000492.3(CFTR):c.2998_3019del22 (p.Ile1000Leufs) http://identifiers.org/clinvar/53670 ^@ NM_000492.3(CFTR):c.3177A>G (p.Leu1059=) http://identifiers.org/clinvar/53721 ^@ NM_000492.3(CFTR):c.3353C>G (p.Ser1118Cys) http://identifiers.org/clinvar/53772 ^@ NM_000492.3(CFTR):c.357delC (p.Ile119Metfs) http://identifiers.org/clinvar/53824 ^@ NM_000492.3(CFTR):c.3855delC (p.Phe1286Leufs) http://identifiers.org/clinvar/53876 ^@ NM_000492.3(CFTR):c.4036_4042delCTAAGCC (p.Leu1346Metfs) http://identifiers.org/clinvar/53927 ^@ NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser) http://identifiers.org/clinvar/53977 ^@ NM_000492.3(CFTR):c.494delT (p.Leu165Terfs) http://identifiers.org/clinvar/54027 ^@ NM_000492.3(CFTR):c.614C>G (p.Pro205Arg) http://identifiers.org/clinvar/54079 ^@ NM_000492.3(CFTR):c.881_882delAA (p.Lys294Thrfs) http://identifiers.org/clinvar/54481 ^@ NM_007294.3(BRCA1):c.216C>A (p.Ser72Arg) http://identifiers.org/clinvar/54531 ^@ NM_007294.3(BRCA1):c.2310_2311insC (p.Val772Glyfs) http://identifiers.org/clinvar/55530 ^@ NM_007294.3(BRCA1):c.5332G>A (p.Asp1778Asn) http://identifiers.org/clinvar/55580 ^@ NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) http://identifiers.org/clinvar/55630 ^@ NM_007294.3(BRCA1):c.5559C>G (p.Tyr1853Ter) http://identifiers.org/clinvar/55682 ^@ NM_007294.3(BRCA1):c.734A>T (p.Asp245Val) http://identifiers.org/clinvar/55733 ^@ NM_007294.3(BRCA1):c.83_84delTG (p.Leu28Argfs) http://identifiers.org/clinvar/55795 ^@ NM_005188.3(CBL):c.869+19A>G http://identifiers.org/clinvar/55862 ^@ NM_015250.3(BICD2):c.1502G>C (p.Arg501Pro) http://identifiers.org/clinvar/55941 ^@ NM_000027.3(AGA):c.336delT (p.Ile112Metfs) http://identifiers.org/clinvar/55992 ^@ NM_000111.2(SLC26A3):c.2132T>G (p.Leu711Ter) http://identifiers.org/clinvar/56045 ^@ NM_000170.2(GLDC):c.1444dupG (p.Asp482Glyfs) http://identifiers.org/clinvar/56096 ^@ NM_000170.2(GLDC):c.449A>C (p.Asn150Thr) http://identifiers.org/clinvar/56150 ^@ NM_000243.2(MEFV):c.314C>A (p.Ala105Glu) http://identifiers.org/clinvar/56201 ^@ NM_000310.3(PPT1):c.538dupC (p.Leu180Profs) http://identifiers.org/clinvar/56252 ^@ NM_001042432.1(CLN3):c.1247A>G (p.Asp416Gly) http://identifiers.org/clinvar/56302 ^@ NM_001080522.2(CC2D2A):c.3145C>G (p.Arg1049Gly) http://identifiers.org/clinvar/56354 ^@ NM_001126105.2(SLC7A7):c.1273T>C (p.Cys425Arg) http://identifiers.org/clinvar/56406 ^@ NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) http://identifiers.org/clinvar/56456 ^@ NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) http://identifiers.org/clinvar/56506 ^@ NM_004646.3(NPHS1):c.479G>C (p.Cys160Ser) http://identifiers.org/clinvar/56557 ^@ NM_012434.4(SLC17A5):c.719G>A (p.Trp240Ter) http://identifiers.org/clinvar/56611 ^@ NM_017739.3(POMGNT1):c.982dupG (p.Val328Glyfs) http://identifiers.org/clinvar/56665 ^@ NM_017890.4(VPS13B):c.4474delA (p.Ile1492Phefs) http://identifiers.org/clinvar/56715 ^@ NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) http://identifiers.org/clinvar/56765 ^@ NM_153704.5(TMEM67):c.1322G>T (p.Arg441Leu) http://identifiers.org/clinvar/56890 ^@ NM_001287.5(CLCN7):c.296A>G (p.Tyr99Cys) http://identifiers.org/clinvar/125728 ^@ NM_007294.3(BRCA1):c.4696_4697insA (p.Ser1566Tyrfs) http://identifiers.org/clinvar/125803 ^@ NM_007294.3(BRCA1):c.5194-18G>T http://identifiers.org/clinvar/125866 ^@ NM_007294.3(BRCA1):c.442-3delT http://identifiers.org/clinvar/125930 ^@ NM_000059.3(BRCA2):c.963A>C (p.Gln321His) http://identifiers.org/clinvar/126300 ^@ NM_153704.5(TMEM67):c.1774-45A>C http://identifiers.org/clinvar/126351 ^@ NM_003070.4(SMARCA2):c.683A>C (p.Gln228Pro) http://identifiers.org/clinvar/126407 ^@ NM_015474.3(SAMHD1):c.1411-2A>G http://identifiers.org/clinvar/126475 ^@ NM_021625.4(TRPV4):c.2125C>A (p.Leu709Met) http://identifiers.org/clinvar/126560 ^@ NM_001111.4(ADAR):c.1630C>T (p.Arg544Ter) http://identifiers.org/clinvar/126612 ^@ NM_024675.3(PALB2):c.1656G>A (p.Gln552=) http://identifiers.org/clinvar/126664 ^@ NM_024675.3(PALB2):c.2586+81C>T http://identifiers.org/clinvar/126714 ^@ NM_024675.3(PALB2):c.3114-51T>A http://identifiers.org/clinvar/126765 ^@ NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) http://identifiers.org/clinvar/126816 ^@ NM_000321.2(RB1):c.31G>T (p.Ala11Ser) http://identifiers.org/clinvar/126869 ^@ NM_000610.3(CD44):c.68-18471G>A http://identifiers.org/clinvar/126925 ^@ NM_001127464.2(ZNF469):c.4363G>T (p.Ala1455Ser) http://identifiers.org/clinvar/126975 ^@ NM_000251.2(MSH2):c.367-108A>C http://identifiers.org/clinvar/127025 ^@ NM_005591.3(MRE11):c.*214T>G http://identifiers.org/clinvar/127077 ^@ NM_000343.3(SLC5A1):c.1673G>A (p.Arg558His) http://identifiers.org/clinvar/127146 ^@ NM_005861.3(STUB1):c.737C>T (p.Thr246Met) http://identifiers.org/clinvar/127247 ^@ NM_006031.5(PCNT):c.196G>T (p.Gly66Ter) http://identifiers.org/clinvar/127299 ^@ NM_000038.5(APC):c.4875delA (p.Gln1625Hisfs) http://identifiers.org/clinvar/127349 ^@ NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) http://identifiers.org/clinvar/127500 ^@ NM_000057.3(BLM):c.3592G>A (p.Val1198Met) http://identifiers.org/clinvar/127550 ^@ NM_000136.2(FANCC):c.973G>A (p.Ala325Thr) http://identifiers.org/clinvar/127600 ^@ NM_000179.2(MSH6):c.558C>G (p.Asp186Glu) http://identifiers.org/clinvar/127651 ^@ NM_000251.2(MSH2):c.709A>G (p.Ile237Val) http://identifiers.org/clinvar/127710 ^@ NM_000455.4(STK11):c.970C>G (p.Pro324Ala) http://identifiers.org/clinvar/127760 ^@ NM_000535.6(PMS2):c.1477G>A (p.Asp493Asn) http://identifiers.org/clinvar/127811 ^@ NM_000546.5(TP53):c.467G>A (p.Arg156His) http://identifiers.org/clinvar/160349 ^@ NM_032237.4(POMK):c.905T>A (p.Val302Asp) http://identifiers.org/clinvar/160809 ^@ GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 http://identifiers.org/clinvar/160860 ^@ GRCh38/hg38 14q21.2(chr14:43387283-44153866)x3 http://identifiers.org/clinvar/160912 ^@ GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 http://identifiers.org/clinvar/160964 ^@ GRCh38/hg38 8p22(chr8:15814812-16351017)x3 http://identifiers.org/clinvar/161015 ^@ GRCh38/hg38 2q13(chr2:110104900-110207160)x1 http://identifiers.org/clinvar/161065 ^@ GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x2 http://identifiers.org/clinvar/161115 ^@ NM_016026.3(RDH11):c.199C>T (p.Arg67Ter) http://identifiers.org/clinvar/161194 ^@ NM_001114748.1(TMEM240):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/161347 ^@ NM_000313.3(PROS1):c.431C>A (p.Thr144Asn) http://identifiers.org/clinvar/161247 ^@ NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) http://identifiers.org/clinvar/161297 ^@ NM_001040108.1(MLH3):c.4180G>A (p.Ala1394Thr) http://identifiers.org/clinvar/161398 ^@ NM_000548.4(TSC2):c.167A>G (p.Asn56Ser) http://identifiers.org/clinvar/161766 ^@ NM_023015.4(INTS3):c.1700T>C (p.Ile567Thr) http://identifiers.org/clinvar/161466 ^@ NM_000388.3(CASR):c.3121C>T (p.Arg1041Trp) http://identifiers.org/clinvar/161716 ^@ NM_018358.2(ABCF3):c.1327C>T (p.Arg443Trp) http://identifiers.org/clinvar/161816 ^@ NM_152744.3(SDK1):c.5214+8C>T http://identifiers.org/clinvar/161616 ^@ NM_003496.3(TRRAP):c.8399A>G (p.Gln2800Arg) http://identifiers.org/clinvar/161516 ^@ NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) http://identifiers.org/clinvar/161666 ^@ NM_013289.2(KIR3DL1):c.809G>A (p.Arg270His) http://identifiers.org/clinvar/161566 ^@ NM_001199866.1(KIF16B):c.1588G>A (p.Val530Met) http://identifiers.org/clinvar/161978 ^@ NM_000395.2(CSF2RB):c.812C>T (p.Ser271Leu) http://identifiers.org/clinvar/162045 ^@ NM_023067.3(FOXL2):c.843_859dup17 (p.Pro287Argfs) http://identifiers.org/clinvar/162102 ^@ NM_000059.3(BRCA2):c.3280A>T (p.Lys1094Ter) http://identifiers.org/clinvar/162165 ^@ NM_000493.3(COL10A1):c.155-611A>T http://identifiers.org/clinvar/162377 ^@ NM_001142415.1(AIMP1):c.115C>T (p.Gln39Ter) http://identifiers.org/clinvar/162457 ^@ NM_014305.3(TGDS):c.269A>G (p.Glu90Gly) http://identifiers.org/clinvar/162510 ^@ NM_000264.3(PTCH1):c.395-1G>A http://identifiers.org/clinvar/165751 ^@ NM_133378.4(TTN):c.83469A>C (p.Glu27823Asp) http://identifiers.org/clinvar/165886 ^@ NM_001256850.1(TTN):c.61667G>A (p.Arg20556Gln) http://identifiers.org/clinvar/166080 ^@ NM_133378.4(TTN):c.32387C>T (p.Ala10796Val) http://identifiers.org/clinvar/166228 ^@ NM_133432.3(TTN):c.13262A>G (p.Tyr4421Cys) http://identifiers.org/clinvar/166278 ^@ NM_133379.4(TTN):c.11225delT (p.Leu3742Argfs) http://identifiers.org/clinvar/164832 ^@ NM_194248.2(OTOF):c.5922G>A (p.Leu1974=) http://identifiers.org/clinvar/166328 ^@ NM_133378.4(TTN):c.3514C>A (p.Leu1172Ile) http://identifiers.org/clinvar/165972 ^@ NM_133378.4(TTN):c.47170G>C (p.Gly15724Arg) http://identifiers.org/clinvar/165225 ^@ NM_172244.2(SGCD):c.-44G>T http://identifiers.org/clinvar/163968 ^@ NM_001038603.2(MARVELD2):c.900G>A (p.Leu300=) http://identifiers.org/clinvar/198537 ^@ NM_006019.3(TCIRG1):c.656T>C (p.Phe219Ser) http://identifiers.org/clinvar/198588 ^@ NM_024120.4(NDUFAF5):c.585T>C (p.Tyr195=) http://identifiers.org/clinvar/198640 ^@ NM_022124.5(CDH23):c.10021C>T (p.Arg3341Cys) http://identifiers.org/clinvar/198690 ^@ NM_000070.2(CAPN3):c.1076C>T (p.Pro359Leu) http://identifiers.org/clinvar/217364 ^@ NM_130838.1(UBE3A):c.2444C>G (p.Pro815Arg) http://identifiers.org/clinvar/200954 ^@ NM_170707.3(LMNA):c.329delG (p.Arg110Leufs) http://identifiers.org/clinvar/201368 ^@ NM_001035.2(RYR2):c.184C>T (p.Leu62Phe) http://identifiers.org/clinvar/201202 ^@ NM_001035.2(RYR2):c.812C>T (p.Ala271Val) http://identifiers.org/clinvar/201258 ^@ NM_001035.2(RYR2):c.5761C>T (p.Arg1921Trp) http://identifiers.org/clinvar/201312 ^@ NM_001035.2(RYR2):c.11497G>A (p.Asp3833Asn) http://identifiers.org/clinvar/201425 ^@ NM_198056.2(SCN5A):c.6011T>C (p.Phe2004Ser) http://identifiers.org/clinvar/201596 ^@ NM_198056.2(SCN5A):c.5830C>T (p.Arg1944Ter) http://identifiers.org/clinvar/201538 ^@ NM_198056.2(SCN5A):c.5435C>T (p.Ser1812Leu) http://identifiers.org/clinvar/201481 ^@ NM_198056.2(SCN5A):c.2848C>T (p.Pro950Ser) http://identifiers.org/clinvar/200516 ^@ NM_000238.3(KCNH2):c.3007G>T (p.Asp1003Tyr) http://identifiers.org/clinvar/200755 ^@ NM_000238.3(KCNH2):c.1945+1G>A http://identifiers.org/clinvar/200646 ^@ NM_000238.3(KCNH2):c.1913_1915delAGA (p.Lys638del) http://identifiers.org/clinvar/200340 ^@ NM_000238.3(KCNH2):c.1415G>C (p.Arg472Pro) http://identifiers.org/clinvar/200220 ^@ NM_000238.3(KCNH2):c.1149C>T (p.Asp383=) http://identifiers.org/clinvar/200894 ^@ NM_000218.2(KCNQ1):c.557G>T (p.Gly186Val) http://identifiers.org/clinvar/200839 ^@ NM_000218.2(KCNQ1):c.1078A>T (p.Arg360Trp) http://identifiers.org/clinvar/200097 ^@ NM_000138.4(FBN1):c.6917G>A (p.Arg2306His) http://identifiers.org/clinvar/200045 ^@ NM_000138.4(FBN1):c.4447G>A (p.Gly1483Arg) http://identifiers.org/clinvar/200157 ^@ NM_000138.4(FBN1):c.2786_2789dupCTAG (p.Arg930Serfs) http://identifiers.org/clinvar/201083 ^@ NM_002474.2(MYH11):c.5269G>A (p.Asp1757Asn) http://identifiers.org/clinvar/201029 ^@ NM_001040113.1(MYH11):c.3672+5_3672+11delTGCTTTTinsG http://identifiers.org/clinvar/201142 ^@ NM_000540.2(RYR1):c.12847G>A (p.Glu4283Lys) http://identifiers.org/clinvar/201652 ^@ NM_001103.3(ACTN2):c.2520delT (p.Asp841Ilefs) http://identifiers.org/clinvar/201709 ^@ NM_001927.3(DES):c.1243C>T (p.Arg415Trp) http://identifiers.org/clinvar/201763 ^@ NM_001390.4(DTNA):c.*2600C>T http://identifiers.org/clinvar/202892 ^@ NM_001256850.1(TTN):c.74717G>A (p.Arg24906Gln) http://identifiers.org/clinvar/202842 ^@ NM_001256850.1(TTN):c.67663C>T (p.Arg22555Cys) http://identifiers.org/clinvar/202792 ^@ NM_001256850.1(TTN):c.60203C>T (p.Ala20068Val) http://identifiers.org/clinvar/232420 ^@ NM_000038.5(APC):c.7720C>A (p.Leu2574Ile) http://identifiers.org/clinvar/229731 ^@ NM_005732.3(RAD50):c.214-5C>G http://identifiers.org/clinvar/230131 ^@ NM_005732.3(RAD50):c.1007C>G (p.Ser336Cys) http://identifiers.org/clinvar/232871 ^@ NM_005732.3(RAD50):c.1174delC (p.Gln392Argfs) http://identifiers.org/clinvar/233071 ^@ NM_005732.3(RAD50):c.2253A>G (p.Arg751=) http://identifiers.org/clinvar/229831 ^@ NM_005732.3(RAD50):c.2501A>G (p.Glu834Gly) http://identifiers.org/clinvar/230281 ^@ NM_000535.6(PMS2):c.1682A>C (p.Lys561Thr) http://identifiers.org/clinvar/232921 ^@ NM_000535.6(PMS2):c.988+1delG http://identifiers.org/clinvar/231420 ^@ NM_002485.4(NBN):c.840C>A (p.Thr280=) http://identifiers.org/clinvar/234163 ^@ NM_000368.4(TSC1):c.2372A>G (p.Asn791Ser) http://identifiers.org/clinvar/232020 ^@ NM_000368.4(TSC1):c.2085G>A (p.Leu695=) http://identifiers.org/clinvar/230231 ^@ NM_000077.4(CDKN2A):c.331G>C (p.Gly111Arg) http://identifiers.org/clinvar/229681 ^@ NM_004329.2(BMPR1A):c.634C>A (p.Gln212Lys) http://identifiers.org/clinvar/232320 ^@ NM_000314.6(PTEN):c.253+4_253+7delGGTA http://identifiers.org/clinvar/233963 ^@ NM_000314.6(PTEN):c.901G>A (p.Asp301Asn) http://identifiers.org/clinvar/232120 ^@ NM_000051.3(ATM):c.1015A>G (p.Ile339Val) http://identifiers.org/clinvar/231970 ^@ NM_000051.3(ATM):c.1019C>A (p.Ala340Asp) http://identifiers.org/clinvar/229981 ^@ NM_000051.3(ATM):c.1363G>A (p.Val455Met) http://identifiers.org/clinvar/232070 ^@ NM_000051.3(ATM):c.4642_4645delGATA (p.Asp1548Thrfs) http://identifiers.org/clinvar/230331 ^@ NM_000051.3(ATM):c.7028A>G (p.Asn2343Ser) http://identifiers.org/clinvar/232971 ^@ NM_000051.3(ATM):c.7516-4G>T http://identifiers.org/clinvar/234063 ^@ NM_000051.3(ATM):c.7842T>G (p.Pro2614=) http://identifiers.org/clinvar/233121 ^@ NM_005591.3(MRE11):c.1926+4A>C http://identifiers.org/clinvar/231720 ^@ NM_005591.3(MRE11):c.1868-4C>T http://identifiers.org/clinvar/233913 ^@ NM_000059.3(BRCA2):c.238A>T (p.Ile80Leu) http://identifiers.org/clinvar/234013 ^@ NM_000059.3(BRCA2):c.588T>C (p.Ser196=) http://identifiers.org/clinvar/232220 ^@ NM_000059.3(BRCA2):c.1658T>C (p.Leu553Ser) http://identifiers.org/clinvar/234113 ^@ NM_000059.3(BRCA2):c.1967C>A (p.Thr656Asn) http://identifiers.org/clinvar/229781 ^@ NM_000059.3(BRCA2):c.3455T>A (p.Leu1152Ter) http://identifiers.org/clinvar/229881 ^@ NM_000059.3(BRCA2):c.6469C>G (p.Gln2157Glu) http://identifiers.org/clinvar/231370 ^@ NM_000059.3(BRCA2):c.7234A>G (p.Thr2412Ala) http://identifiers.org/clinvar/230031 ^@ NM_000059.3(BRCA2):c.8324T>A (p.Met2775Lys) http://identifiers.org/clinvar/231820 ^@ NM_000548.4(TSC2):c.1367A>G (p.Glu456Gly) http://identifiers.org/clinvar/232771 ^@ NM_000548.4(TSC2):c.1566C>T (p.His522=) http://identifiers.org/clinvar/232170 ^@ NM_000548.4(TSC2):c.3774C>T (p.Ala1258=) http://identifiers.org/clinvar/231920 ^@ NM_024675.3(PALB2):c.908T>A (p.Leu303His) http://identifiers.org/clinvar/230081 ^@ NM_004360.4(CDH1):c.1773C>T (p.Asn591=) http://identifiers.org/clinvar/232520 ^@ NM_001042492.2(NF1):c.435C>T (p.Leu145=) http://identifiers.org/clinvar/234213 ^@ NM_001042492.2(NF1):c.955dupA (p.Ser319Lysfs) http://identifiers.org/clinvar/232671 ^@ NM_001042492.2(NF1):c.4958G>A (p.Arg1653His) http://identifiers.org/clinvar/233863 ^@ NM_002878.3(RAD51D):c.359T>G (p.Met120Arg) http://identifiers.org/clinvar/232370 ^@ NM_007294.3(BRCA1):c.2738A>G (p.Asn913Ser) http://identifiers.org/clinvar/233021 ^@ NM_007294.3(BRCA1):c.482C>T (p.Thr161Ile) http://identifiers.org/clinvar/233812 ^@ NM_058216.2(RAD51C):c.234A>C (p.Thr78=) http://identifiers.org/clinvar/231870 ^@ NM_032043.2(BRIP1):c.753C>T (p.Arg251=) http://identifiers.org/clinvar/232270 ^@ NM_032043.2(BRIP1):c.752G>A (p.Arg251His) http://identifiers.org/clinvar/230431 ^@ NM_000546.5(TP53):c.277C>T (p.Leu93=) http://identifiers.org/clinvar/232570 ^@ NM_005359.5(SMAD4):c.344G>A (p.Cys115Tyr) http://identifiers.org/clinvar/231770 ^@ NM_007194.3(CHEK2):c.1095+1G>A http://identifiers.org/clinvar/231320 ^@ NM_007194.3(CHEK2):c.496A>G (p.Asn166Asp) http://identifiers.org/clinvar/235038 ^@ NM_000432.3(MYL2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/234987 ^@ NM_024422.4(DSC2):c.408A>G (p.Arg136=) http://identifiers.org/clinvar/235088 ^@ NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys) http://identifiers.org/clinvar/235224 ^@ NM_006514.3(SCN10A):c.4009T>A (p.Ser1337Thr) http://identifiers.org/clinvar/235277 ^@ NM_138694.3(PKHD1):c.6462T>G (p.Val2154=) http://identifiers.org/clinvar/237355 ^@ NM_000251.2(MSH2):c.1077-?_*279+?del http://identifiers.org/clinvar/241310 ^@ NM_020919.3(ALS2):c.2241C>T (p.Tyr747=) http://identifiers.org/clinvar/237405 ^@ NM_000251.2(MSH2):c.755A>G (p.Gln252Arg) http://identifiers.org/clinvar/237154 ^@ NM_000179.2(MSH6):c.2225A>C (p.Asn742Thr) http://identifiers.org/clinvar/237205 ^@ NM_000179.2(MSH6):c.4002-22_4002-10delinsAAGGG http://identifiers.org/clinvar/238106 ^@ NM_000551.3(VHL):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/237756 ^@ NM_000388.3(CASR):c.1285C>T (p.His429Tyr) http://identifiers.org/clinvar/237305 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTA http://identifiers.org/clinvar/238306 ^@ NM_001106.3(ACVR2B):c.993C>T (p.Ser331=) http://identifiers.org/clinvar/237255 ^@ NM_000222.2(KIT):c.2208C>T (p.Ala736=) http://identifiers.org/clinvar/237856 ^@ NM_000492.3(CFTR):c.3718-2530A>G http://identifiers.org/clinvar/260359 ^@ NM_014208.3(DSPP):c.897A>G (p.Ser299=) http://identifiers.org/clinvar/260809 ^@ NM_017415.2(KLHL3):c.471A>G (p.Ala157=) http://identifiers.org/clinvar/257059 ^@ NM_001017995.2(SH3PXD2B):c.843G>A (p.Glu281=) http://identifiers.org/clinvar/263048 ^@ NM_182925.4(FLT4):c.3220-21A>C http://identifiers.org/clinvar/262348 ^@ NM_133433.3(NIPBL):c.5226-4G>A http://identifiers.org/clinvar/257359 ^@ NM_001080479.2(ARHGEF28):c.1680A>G (p.Ser560=) http://identifiers.org/clinvar/260859 ^@ NM_017651.4(AHI1):c.3485+43G>C http://identifiers.org/clinvar/261109 ^@ NM_019105.6(TNXB):c.11524+37C>T http://identifiers.org/clinvar/261159 ^@ NM_019105.6(TNXB):c.7440T>C (p.Tyr2480=) http://identifiers.org/clinvar/262398 ^@ NM_138694.3(PKHD1):c.3561-47A>G http://identifiers.org/clinvar/260759 ^@ NM_016616.4(NME8):c.271-49G>A http://identifiers.org/clinvar/255420 ^@ NM_000168.5(GLI3):c.1356+11G>C http://identifiers.org/clinvar/263098 ^@ NM_194456.1(KRIT1):c.1980A>G (p.Val660=) http://identifiers.org/clinvar/255170 ^@ NM_000127.2(EXT1):c.117A>G (p.Glu39=) http://identifiers.org/clinvar/261309 ^@ NM_020476.2(ANK1):c.4101C>T (p.Ala1367=) http://identifiers.org/clinvar/260909 ^@ NM_017780.3(CHD7):c.5625T>C (p.Pro1875=) http://identifiers.org/clinvar/260409 ^@ NM_014425.4(INVS):c.2068+31G>A http://identifiers.org/clinvar/260509 ^@ NM_015046.5(SETX):c.5950-14G>A http://identifiers.org/clinvar/262448 ^@ NM_139025.4(ADAMTS13):c.3846G>A (p.Val1282=) http://identifiers.org/clinvar/255070 ^@ NM_000093.4(COL5A1):c.2845-15T>C http://identifiers.org/clinvar/262848 ^@ NM_173551.4(ANKS6):c.2203C>G (p.Pro735Ala) http://identifiers.org/clinvar/255320 ^@ NM_000141.4(FGFR2):c.831C>T (p.Val277=) http://identifiers.org/clinvar/260459 ^@ NM_014915.2(ANKRD26):c.1564+6T>C http://identifiers.org/clinvar/257409 ^@ NM_001083116.1(PRF1):c.900C>T (p.His300=) http://identifiers.org/clinvar/256659 ^@ NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) http://identifiers.org/clinvar/261409 ^@ NM_021150.3(GRIP1):c.1682+13G>T http://identifiers.org/clinvar/255220 ^@ NM_000131.4(F7):c.806-10T>C http://identifiers.org/clinvar/261459 ^@ NM_021954.3(GJA3):c.895C>A (p.Leu299Met) http://identifiers.org/clinvar/254770 ^@ NM_000053.3(ATP7B):c.4021+50G>C http://identifiers.org/clinvar/261009 ^@ NM_018139.2(DNAAF2):c.1269G>C (p.Pro423=) http://identifiers.org/clinvar/257109 ^@ NM_001024858.2(SPTB):c.360C>T (p.Leu120=) http://identifiers.org/clinvar/255370 ^@ NM_000153.3(GALC):c.1302C>T (p.Ser434=) http://identifiers.org/clinvar/254870 ^@ NM_000070.2(CAPN3):c.246G>A (p.Pro82=) http://identifiers.org/clinvar/262898 ^@ NM_174916.2(UBR1):c.862-18C>T http://identifiers.org/clinvar/332515 ^@ NM_003659.3(AGPS):c.637+13C>T http://identifiers.org/clinvar/336095 ^@ NM_022437.2(ABCG8):c.*206C>T http://identifiers.org/clinvar/333354 ^@ NM_001006657.1(WDR35):c.*1038C>G http://identifiers.org/clinvar/336195 ^@ NM_000341.3(SLC3A1):c.808C>T (p.Arg270Ter) http://identifiers.org/clinvar/333404 ^@ NM_001006657.1(WDR35):c.549C>T (p.Tyr183=) http://identifiers.org/clinvar/336452 ^@ NM_000233.3(LHCGR):c.*281delA http://identifiers.org/clinvar/333704 ^@ NM_001204.6(BMPR2):c.*5111dupA http://identifiers.org/clinvar/333304 ^@ NM_002156.4(HSPD1):c.*56G>A http://identifiers.org/clinvar/336552 ^@ NM_001135659.2(NRXN1):c.773-1G>A http://identifiers.org/clinvar/333854 ^@ NM_014929.3(FASTKD2):c.*3380G>A http://identifiers.org/clinvar/335945 ^@ NM_000104.3(CYP1B1):c.*210dupT http://identifiers.org/clinvar/333904 ^@ NM_015040.3(PIKFYVE):c.2718C>T (p.Tyr906=) http://identifiers.org/clinvar/336802 ^@ NM_002056.3(GFPT1):c.*4650A>G http://identifiers.org/clinvar/333954 ^@ NM_015040.3(PIKFYVE):c.*1098A>G http://identifiers.org/clinvar/336852 ^@ NM_002056.3(GFPT1):c.*1168C>T http://identifiers.org/clinvar/336245 ^@ NM_001430.4(EPAS1):c.218-9_218-8insT http://identifiers.org/clinvar/334004 ^@ NM_001608.3(ACADL):c.7G>T (p.Ala3Ser) http://identifiers.org/clinvar/337202 ^@ NM_000821.6(GGCX):c.*3416G>A http://identifiers.org/clinvar/337302 ^@ NM_198843.2(SFTPB):c.883G>A (p.Ala295Thr) http://identifiers.org/clinvar/336502 ^@ NM_001135659.2(NRXN1):c.*2629A>C http://identifiers.org/clinvar/337452 ^@ NM_017849.3(TMEM127):c.*2966C>G http://identifiers.org/clinvar/336602 ^@ NM_001135659.2(NRXN1):c.-1463_-1452delCTCTCTCTCTCT http://identifiers.org/clinvar/337502 ^@ NM_017849.3(TMEM127):c.589C>T (p.Arg197Cys) http://identifiers.org/clinvar/334356 ^@ NM_004328.4(BCS1L):c.112C>G (p.Leu38Val) http://identifiers.org/clinvar/334206 ^@ NM_173076.2(ABCA12):c.*844C>T http://identifiers.org/clinvar/334256 ^@ NM_173076.2(ABCA12):c.2276C>G (p.Thr759Ser) http://identifiers.org/clinvar/334306 ^@ NM_015488.4(PNKD):c.-65G>A http://identifiers.org/clinvar/334406 ^@ NM_025216.2(WNT10A):c.838A>T (p.Thr280Ser) http://identifiers.org/clinvar/337102 ^@ NM_004082.4(DCTN1):c.-281C>T http://identifiers.org/clinvar/337152 ^@ NM_003849.3(SUCLG1):c.*13delA http://identifiers.org/clinvar/334956 ^@ NM_152383.4(DIS3L2):c.*251C>A http://identifiers.org/clinvar/336145 ^@ NM_133259.3(LRPPRC):c.3901-6T>G http://identifiers.org/clinvar/350661 ^@ NM_032446.2(MEGF10):c.2289C>T (p.Asn763=) http://identifiers.org/clinvar/357537 ^@ NM_001723.5(DST):c.*382G>A http://identifiers.org/clinvar/357687 ^@ NM_001142800.1(EYS):c.8234-15T>A http://identifiers.org/clinvar/350861 ^@ NM_014402.4(UQCRQ):c.*1086A>C http://identifiers.org/clinvar/357887 ^@ NM_014989.5(RIMS1):c.*1682C>T http://identifiers.org/clinvar/355098 ^@ NM_000493.3(COL10A1):c.1147G>A (p.Gly383Arg) http://identifiers.org/clinvar/355198 ^@ NM_006073.3(TRDN):c.*1458_*1459dupCA http://identifiers.org/clinvar/355398 ^@ NM_006208.2(ENPP1):c.*1972G>C http://identifiers.org/clinvar/358687 ^@ NM_001127500.2(MET):c.1863-5dupT http://identifiers.org/clinvar/351500 ^@ NM_054027.4(ANKH):c.1332C>T (p.Val444=) http://identifiers.org/clinvar/351550 ^@ NM_006846.3(SPINK5):c.*229A>C http://identifiers.org/clinvar/351600 ^@ NM_024577.3(SH3TC2):c.*19406A>G http://identifiers.org/clinvar/351650 ^@ NM_024577.3(SH3TC2):c.*15339G>A http://identifiers.org/clinvar/351450 ^@ NM_054027.4(ANKH):c.*2301delA http://identifiers.org/clinvar/351900 ^@ NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) http://identifiers.org/clinvar/351950 ^@ NM_000440.2(PDE6A):c.*2079_*2080delGA http://identifiers.org/clinvar/355998 ^@ NM_004562.2(PRKN):c.*1296A>G http://identifiers.org/clinvar/351750 ^@ NM_024577.3(SH3TC2):c.*8521C>A http://identifiers.org/clinvar/351800 ^@ NM_024577.3(SH3TC2):c.*5933G>A http://identifiers.org/clinvar/351850 ^@ NM_024577.3(SH3TC2):c.*2862G>A http://identifiers.org/clinvar/352148 ^@ NM_005211.3(CSF1R):c.1626+3G>A http://identifiers.org/clinvar/352198 ^@ NM_001135243.1(TCOF1):c.999G>A (p.Gly333=) http://identifiers.org/clinvar/352248 ^@ NM_001135243.1(TCOF1):c.*457T>G http://identifiers.org/clinvar/359676 ^@ NM_001277115.1(DNAH11):c.11220C>G (p.Phe3740Leu) http://identifiers.org/clinvar/352098 ^@ NM_000112.3(SLC26A2):c.*5553G>A http://identifiers.org/clinvar/359726 ^@ NM_032581.3(FAM126A):c.*2976G>T http://identifiers.org/clinvar/352398 ^@ NM_000337.5(SGCD):c.*4993A>C http://identifiers.org/clinvar/359926 ^@ NM_018947.5(CYCS):c.*1622delC http://identifiers.org/clinvar/352298 ^@ NM_000405.4(GM2A):c.*2643G>T http://identifiers.org/clinvar/352348 ^@ NM_000337.5(SGCD):c.*822C>T http://identifiers.org/clinvar/360076 ^@ NM_198428.2(BBS9):c.*138A>C http://identifiers.org/clinvar/360226 ^@ NM_000168.5(GLI3):c.4005G>A (p.Pro1335=) http://identifiers.org/clinvar/352548 ^@ NM_001099287.1(NIPAL4):c.*1647T>C http://identifiers.org/clinvar/360426 ^@ NM_000790.3(DDC):c.*155C>T http://identifiers.org/clinvar/357637 ^@ NM_183227.2(RAB23):c.*416G>C http://identifiers.org/clinvar/357787 ^@ NM_018368.3(LMBRD1):c.-181C>A http://identifiers.org/clinvar/358037 ^@ NM_004999.3(MYO6):c.*2996A>G http://identifiers.org/clinvar/364314 ^@ NM_000035.3(ALDOB):c.375T>C (p.Ile125=) http://identifiers.org/clinvar/364364 ^@ NM_005502.3(ABCA1):c.*566G>C http://identifiers.org/clinvar/364614 ^@ NM_005592.3(MUSK):c.2286C>T (p.Asp762=) http://identifiers.org/clinvar/364514 ^@ NM_001079802.1(FKTN):c.*3377A>G http://identifiers.org/clinvar/300817 ^@ NM_014000.2(VCL):c.*1665_*1669dupAAGTA http://identifiers.org/clinvar/364914 ^@ NM_002316.3(LMX1B):c.*898C>T http://identifiers.org/clinvar/300917 ^@ NM_012330.3(KAT6B):c.*1235T>C http://identifiers.org/clinvar/307871 ^@ NM_172364.4(CACNA2D4):c.255C>T (p.Gly85=) http://identifiers.org/clinvar/364814 ^@ NM_000177.4(GSN):c.1441C>T (p.Arg481Cys) http://identifiers.org/clinvar/365014 ^@ NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) http://identifiers.org/clinvar/307971 ^@ NM_006446.4(SLCO1B1):c.*575G>A http://identifiers.org/clinvar/364964 ^@ NM_002316.3(LMX1B):c.*3182A>G http://identifiers.org/clinvar/308221 ^@ NM_000719.6(CACNA1C):c.*3754T>G http://identifiers.org/clinvar/308321 ^@ NM_139241.3(FGD4):c.*1704C>G http://identifiers.org/clinvar/365414 ^@ NM_000368.4(TSC1):c.*3679G>A http://identifiers.org/clinvar/365464 ^@ NM_000368.4(TSC1):c.*1970G>A http://identifiers.org/clinvar/308621 ^@ NM_198578.3(LRRK2):c.2900A>G (p.His967Arg) http://identifiers.org/clinvar/365564 ^@ NM_139025.4(ADAMTS13):c.3651T>C (p.Ile1217=) http://identifiers.org/clinvar/301517 ^@ NG_009089.2:g.5052G>A http://identifiers.org/clinvar/365214 ^@ NM_000113.2(TOR1A):c.*898_*900delATT http://identifiers.org/clinvar/365264 ^@ NM_054012.3(ASS1):c.*55A>C http://identifiers.org/clinvar/308871 ^@ NM_001017535.1(VDR):c.*111C>A http://identifiers.org/clinvar/365314 ^@ NM_015046.5(SETX):c.*1454C>G http://identifiers.org/clinvar/301667 ^@ NM_016341.3(PLCE1):c.-537G>A http://identifiers.org/clinvar/301767 ^@ NM_002860.3(ALDH18A1):c.1329C>T (p.Ile443=) http://identifiers.org/clinvar/298378 ^@ NM_004376.5(COX15):c.*3210C>T http://identifiers.org/clinvar/298478 ^@ NM_000392.4(ABCC2):c.4454A>G (p.His1485Arg) http://identifiers.org/clinvar/302117 ^@ NM_001080463.1(DYNC2H1):c.12117T>C (p.Asp4039=) http://identifiers.org/clinvar/302167 ^@ NM_001025389.1(AMPD3):c.1258A>G (p.Met420Val) http://identifiers.org/clinvar/309960 ^@ NM_004984.2(KIF5A):c.*430_*433delGCAC http://identifiers.org/clinvar/310010 ^@ NM_001172696.1(TSFM):c.271T>G (p.Trp91Gly) http://identifiers.org/clinvar/310210 ^@ NM_002076.3(GNS):c.337A>G (p.Thr113Ala) http://identifiers.org/clinvar/310510 ^@ NM_002469.2(MYF6):c.*152C>A http://identifiers.org/clinvar/310560 ^@ NM_020661.3(AICDA):c.*1106A>G http://identifiers.org/clinvar/310665 ^@ NM_001920.4(DCN):c.-187A>G http://identifiers.org/clinvar/310715 ^@ NM_002108.3(HAL):c.841G>A (p.Ala281Thr) http://identifiers.org/clinvar/310915 ^@ NM_000123.3(ERCC5):c.669A>C (p.Pro223=) http://identifiers.org/clinvar/312654 ^@ NM_001376.4(DYNC1H1):c.11913C>G (p.Pro3971=) http://identifiers.org/clinvar/321889 ^@ NM_006445.3(PRPF8):c.3774+6G>A http://identifiers.org/clinvar/314393 ^@ NM_001040108.1(MLH3):c.149T>A (p.Phe50Tyr) http://identifiers.org/clinvar/314743 ^@ NM_000153.3(GALC):c.2053C>A (p.Arg685Ser) http://identifiers.org/clinvar/314793 ^@ NM_018418.4(SPATA7):c.1679A>C (p.Asn560Thr) http://identifiers.org/clinvar/314843 ^@ NM_018319.3(TDP1):c.*89_*90dupAA http://identifiers.org/clinvar/341182 ^@ NM_000355.3(TCN2):c.-181A>C http://identifiers.org/clinvar/322678 ^@ NM_145068.3(TRPV3):c.*3154C>T http://identifiers.org/clinvar/341232 ^@ NM_000343.3(SLC5A1):c.-23G>A http://identifiers.org/clinvar/314943 ^@ NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) http://identifiers.org/clinvar/322728 ^@ NM_145068.3(TRPV3):c.*1039T>C http://identifiers.org/clinvar/313304 ^@ NM_015915.4(ATL1):c.1152A>G (p.Pro384=) http://identifiers.org/clinvar/322928 ^@ NM_000458.3(HNF1B):c.*804T>C http://identifiers.org/clinvar/313504 ^@ NM_182914.2(SYNE2):c.3767G>A (p.Arg1256His) http://identifiers.org/clinvar/323028 ^@ NM_001004334.3(GPR179):c.921T>A (p.Ser307Arg) http://identifiers.org/clinvar/313554 ^@ NM_182914.2(SYNE2):c.10582C>G (p.Leu3528Val) http://identifiers.org/clinvar/313604 ^@ NM_182914.2(SYNE2):c.15180G>A (p.Pro5060=) http://identifiers.org/clinvar/323328 ^@ NM_032387.4(WNK4):c.1809G>A (p.Gln603=) http://identifiers.org/clinvar/315643 ^@ NM_005159.4(ACTC1):c.*2292C>T http://identifiers.org/clinvar/323378 ^@ NM_000151.3(G6PC):c.*986A>T http://identifiers.org/clinvar/323428 ^@ NM_025237.2(SOST):c.*1394C>G http://identifiers.org/clinvar/323628 ^@ NM_002055.4(GFAP):c.43G>A (p.Val15Ile) http://identifiers.org/clinvar/368243 ^@ NM_004006.2(DMD):c.5263C>T (p.Pro1755Ser) http://identifiers.org/clinvar/368293 ^@ NM_001039891.2(ZNF674):c.*689T>G http://identifiers.org/clinvar/314443 ^@ NM_003239.4(TGFB3):c.*312C>T http://identifiers.org/clinvar/368493 ^@ NM_000084.4(CLCN5):c.*869A>G http://identifiers.org/clinvar/314493 ^@ NM_004452.3(ESRRB):c.*311C>A http://identifiers.org/clinvar/368543 ^@ NM_006306.3(SMC1A):c.*5692G>A http://identifiers.org/clinvar/314593 ^@ NM_004863.3(SPTLC2):c.*4131G>A http://identifiers.org/clinvar/317032 ^@ NM_000520.5(HEXA):c.*630A>G http://identifiers.org/clinvar/315393 ^@ NM_144599.4(NIPA1):c.*1860G>A http://identifiers.org/clinvar/315493 ^@ NM_002420.5(TRPM1):c.4283C>T (p.Thr1428Met) http://identifiers.org/clinvar/317583 ^@ NM_000875.4(IGF1R):c.*4513A>G http://identifiers.org/clinvar/317633 ^@ NM_000875.4(IGF1R):c.*6166G>A http://identifiers.org/clinvar/315243 ^@ NM_139057.3(ADAMTS17):c.*113A>G http://identifiers.org/clinvar/317683 ^@ NM_000246.3(CIITA):c.616G>A (p.Asp206Asn) http://identifiers.org/clinvar/325476 ^@ NM_001077620.2(PRCD):c.*260C>T http://identifiers.org/clinvar/315943 ^@ NM_138477.2(CDAN1):c.1967C>G (p.Thr656Ser) http://identifiers.org/clinvar/325576 ^@ NM_006640.4(SEPT9):c.*20dupC http://identifiers.org/clinvar/325676 ^@ NM_138793.3(CANT1):c.*1032G>T http://identifiers.org/clinvar/325827 ^@ NM_000199.3(SGSH):c.1393C>T (p.Arg465Trp) http://identifiers.org/clinvar/325877 ^@ NM_001139.2(ALOX12B):c.1541C>T (p.Thr514Met) http://identifiers.org/clinvar/371798 ^@ NM_004168.3(SDHA):c.996_998delTGTinsCAC (p.Val333Thr) http://identifiers.org/clinvar/371948 ^@ NM_000077.4(CDKN2A):c.150+71_150+76del6 http://identifiers.org/clinvar/372098 ^@ NM_020975.4(RET):c.2136+15G>A http://identifiers.org/clinvar/371998 ^@ NM_024675.3(PALB2):c.3351-10A>G http://identifiers.org/clinvar/372048 ^@ NM_000455.4(STK11):c.375-5C>T http://identifiers.org/clinvar/372160 ^@ NM_003055.2(SLC18A3):c.1192G>C (p.Asp398His) http://identifiers.org/clinvar/372227 ^@ NM_176869.2(PPA2):c.500C>T (p.Pro167Leu) http://identifiers.org/clinvar/372281 ^@ NM_024854.3(PYROXD1):c.414+1G>A http://identifiers.org/clinvar/372645 ^@ NM_001165963.1(SCN1A):c.2125C>G (p.Gln709Glu) http://identifiers.org/clinvar/372594 ^@ NM_153717.2(EVC):c.1036_1037delCT (p.Leu346Aspfs) http://identifiers.org/clinvar/373743 ^@ NM_000138.4(FBN1):c.5495G>A (p.Arg1832His) http://identifiers.org/clinvar/373793 ^@ NM_000271.4(NPC1):c.2286_2287delCT (p.Phe763Cysfs) http://identifiers.org/clinvar/373643 ^@ NM_000744.6(CHRNA4):c.-25C>T http://identifiers.org/clinvar/373693 ^@ NM_000026.3(ADSL):c.1167G>A (p.Met389Ile) http://identifiers.org/clinvar/373843 ^@ NG_005905.2:g.157279_161602del4324 http://identifiers.org/clinvar/373896 ^@ NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg) http://identifiers.org/clinvar/374196 ^@ NM_000089.3(COL1A2):c.2549G>A (p.Gly850Glu) http://identifiers.org/clinvar/373946 ^@ NM_014112.4(TRPS1):c.1230G>A (p.Trp410Ter) http://identifiers.org/clinvar/374146 ^@ NM_000274.3(OAT):c.875A>G (p.Lys292Arg) http://identifiers.org/clinvar/374046 ^@ NM_001005360.2(DNM2):c.949T>C (p.Phe317Leu) http://identifiers.org/clinvar/374096 ^@ NM_000444.5(PHEX):c.2167_2170dupAACT (p.Phe724Terfs) http://identifiers.org/clinvar/373996 ^@ NC_012920.1:m.8084A>G http://identifiers.org/clinvar/374250 ^@ NM_001003787.2(STRADA):c.792T>A (p.Ser264Arg) http://identifiers.org/clinvar/374385 ^@ NM_001199954.1(ACTG1):c.118C>T (p.His40Tyr) http://identifiers.org/clinvar/374320 ^@ NM_001853.3(COL9A3):c.369+2T>C http://identifiers.org/clinvar/374438 ^@ NM_001127221.1(CACNA1A):c.1693G>A (p.Glu565Lys) http://identifiers.org/clinvar/374488 ^@ NM_172107.3(KCNQ2):c.816+1G>A http://identifiers.org/clinvar/374538 ^@ NM_000452.2(SLC10A2):c.868C>T (p.Pro290Ser) http://identifiers.org/clinvar/374588 ^@ NM_201253.2(CRB1):c.1850C>A (p.Pro617Gln) http://identifiers.org/clinvar/374638 ^@ NM_015474.3(SAMHD1):c.27delC (p.Ser10Profs) http://identifiers.org/clinvar/374688 ^@ NM_005236.2(ERCC4):c.1489A>G (p.Met497Val) http://identifiers.org/clinvar/374738 ^@ NM_206933.2(USH2A):c.8845+4A>G http://identifiers.org/clinvar/374798 ^@ NM_021926.3(ALX4):c.976G>A (p.Asp326Asn) http://identifiers.org/clinvar/374848 ^@ NM_004644.4(AP3B2):c.1489-245_1665+2029del http://identifiers.org/clinvar/374903 ^@ NM_022068.3(PIEZO2):c.1550_1552delGCTinsCGAA (p.Ser517Thrfs) http://identifiers.org/clinvar/391422 ^@ NM_000251.2(MSH2):c.165G>A (p.Arg55=) http://identifiers.org/clinvar/391272 ^@ NM_015120.4(ALMS1):c.7495G>A (p.Glu2499Lys) http://identifiers.org/clinvar/391672 ^@ NM_022912.2(REEP1):c.182+16G>T http://identifiers.org/clinvar/389133 ^@ NM_003494.3(DYSF):c.5430-4C>T http://identifiers.org/clinvar/378694 ^@ NM_003849.3(SUCLG1):c.825+18A>G http://identifiers.org/clinvar/382150 ^@ NM_020194.5(MFF):c.783C>A (p.Ala261=) http://identifiers.org/clinvar/388533 ^@ NM_004321.7(KIF1A):c.4623C>G (p.Ala1541=) http://identifiers.org/clinvar/387294 ^@ NM_004321.7(KIF1A):c.4242G>T (p.Pro1414=) http://identifiers.org/clinvar/387244 ^@ NM_005051.2(QARS):c.703+17A>T http://identifiers.org/clinvar/386094 ^@ NM_015141.3(GPD1L):c.959+11C>T http://identifiers.org/clinvar/382000 ^@ NM_000249.3(MLH1):c.1410-7A>G http://identifiers.org/clinvar/391222 ^@ NM_152393.3(KLHL40):c.1200G>A (p.Ser400=) http://identifiers.org/clinvar/391472 ^@ NM_000038.5(APC):c.1958+7A>G http://identifiers.org/clinvar/386644 ^@ NM_001148.4(ANK2):c.2900+15A>C http://identifiers.org/clinvar/378644 ^@ NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) http://identifiers.org/clinvar/382050 ^@ NM_024577.3(SH3TC2):c.3360G>A (p.Lys1120=) http://identifiers.org/clinvar/391072 ^@ NM_001332.3(CTNND2):c.2723T>C (p.Val908Ala) http://identifiers.org/clinvar/378946 ^@ NM_000038.5(APC):c.3306C>T (p.Tyr1102=) http://identifiers.org/clinvar/388583 ^@ NM_032446.2(MEGF10):c.-32C>T http://identifiers.org/clinvar/382902 ^@ NM_001098511.2(KIF2A):c.1028-16A>G http://identifiers.org/clinvar/389683 ^@ NM_032119.3(ADGRV1):c.17756-5T>C http://identifiers.org/clinvar/387094 ^@ NM_033071.3(SYNE1):c.5898A>G (p.Val1966=) http://identifiers.org/clinvar/392761 ^@ NM_000426.3(LAMA2):c.4436+5G>T http://identifiers.org/clinvar/392961 ^@ NM_024582.4(FAT4):c.10787C>G (p.Ser3596Cys) http://identifiers.org/clinvar/388383 ^@ NM_006416.4(SLC35A1):c.960T>G (p.Thr320=) http://identifiers.org/clinvar/392811 ^@ NM_001851.4(COL9A1):c.2260-20T>C http://identifiers.org/clinvar/388133 ^@ NM_000038.5(APC):c.5403T>C (p.Ala1801=) http://identifiers.org/clinvar/384304 ^@ NM_002291.2(LAMB1):c.2854+20T>G http://identifiers.org/clinvar/390822 ^@ NM_001999.3(FBN2):c.8082C>T (p.His2694=) http://identifiers.org/clinvar/388183 ^@ NM_000083.2(CLCN1):c.2541C>T (p.His847=) http://identifiers.org/clinvar/382552 ^@ NM_007255.2(B4GALT7):c.875A>G (p.Tyr292Cys) http://identifiers.org/clinvar/391172 ^@ NM_000445.4(PLEC):c.906C>T (p.Asn302=) http://identifiers.org/clinvar/382852 ^@ NM_000093.4(COL5A1):c.3750C>G (p.Pro1250=) http://identifiers.org/clinvar/388833 ^@ NM_018341.2(ERMARD):c.171G>C (p.Glu57Asp) http://identifiers.org/clinvar/386944 ^@ NM_017780.3(CHD7):c.3989+9C>T http://identifiers.org/clinvar/377947 ^@ NM_000409.4(GUCA1A):c.205G>T (p.Gly69Cys) http://identifiers.org/clinvar/377395 ^@ NM_020745.3(AARS2):c.-41C>T http://identifiers.org/clinvar/133036 ^@ NM_000540.2(RYR1):c.12355A>T (p.Asn4119Tyr) http://identifiers.org/clinvar/133136 ^@ NM_000540.2(RYR1):c.479A>G (p.Glu160Gly) http://identifiers.org/clinvar/133186 ^@ NM_000540.2(RYR1):c.7097C>G (p.Pro2366Arg) http://identifiers.org/clinvar/133236 ^@ NM_000540.2(RYR1):c.8816+87G>T http://identifiers.org/clinvar/133315 ^@ NM_001904.3(CTNNB1):c.705dupA (p.Gly236Argfs) http://identifiers.org/clinvar/133378 ^@ NM_014225.5(PPP2R1A):c.78+82T>G http://identifiers.org/clinvar/133428 ^@ NM_000548.4(TSC2):c.336+233T>C http://identifiers.org/clinvar/133478 ^@ NM_004304.4(ALK):c.4186G>A (p.Ala1396Thr) http://identifiers.org/clinvar/133529 ^@ NM_000038.5(APC):c.3644G>A (p.Ser1215Asn) http://identifiers.org/clinvar/133579 ^@ NM_015338.5(ASXL1):c.2957A>G (p.Asn986Ser) http://identifiers.org/clinvar/133629 ^@ NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) http://identifiers.org/clinvar/133679 ^@ NM_001123383.1(BCOR):c.2954A>T (p.Tyr985Phe) http://identifiers.org/clinvar/133730 ^@ NM_000059.3(BRCA2):c.5230A>G (p.Ser1744Gly) http://identifiers.org/clinvar/133783 ^@ NM_001211.5(BUB1B):c.1066T>C (p.Cys356Arg) http://identifiers.org/clinvar/133833 ^@ NM_001783.3(CD79A):c.320G>A (p.Arg107Gln) http://identifiers.org/clinvar/133883 ^@ NM_000077.4(CDKN2A):c.297G>T (p.Arg99=) http://identifiers.org/clinvar/133933 ^@ NM_004380.2(CREBBP):c.760G>A (p.Ala254Thr) http://identifiers.org/clinvar/133983 ^@ NM_175629.2(DNMT3A):c.131C>T (p.Thr44Met) http://identifiers.org/clinvar/134033 ^@ NM_201284.1(EGFR):c.1918C>A (p.Leu640Ile) http://identifiers.org/clinvar/134085 ^@ NM_001005862.2(ERBB2):c.3392G>A (p.Arg1131Gln) http://identifiers.org/clinvar/134135 ^@ NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) http://identifiers.org/clinvar/134185 ^@ NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) http://identifiers.org/clinvar/134235 ^@ NM_017709.3(FAM46C):c.895G>A (p.Glu299Lys) http://identifiers.org/clinvar/134286 ^@ NM_000135.2(FANCA):c.480G>A (p.Met160Ile) http://identifiers.org/clinvar/134336 ^@ NM_021922.2(FANCE):c.929C>A (p.Pro310Gln) http://identifiers.org/clinvar/134387 ^@ NM_000141.4(FGFR2):c.34G>A (p.Val12Met) http://identifiers.org/clinvar/134437 ^@ NM_004119.2(FLT3):c.2858C>T (p.Ala953Val) http://identifiers.org/clinvar/134487 ^@ NM_001077490.2(GNAS):c.491T>G (p.Leu164Trp) http://identifiers.org/clinvar/135084 ^@ NM_001198.3(PRDM1):c.1400C>T (p.Pro467Leu) http://identifiers.org/clinvar/135135 ^@ NM_004260.3(RECQL4):c.2131G>A (p.Glu711Lys) http://identifiers.org/clinvar/135186 ^@ NM_020975.4(RET):c.1157C>T (p.Ala386Val) http://identifiers.org/clinvar/136166 ^@ NM_130799.2(MEN1):c.1508G>A (p.Gly503Asp) http://identifiers.org/clinvar/136227 ^@ NM_020745.3(AARS2):c.1015G>A (p.Val339Ile) http://identifiers.org/clinvar/136278 ^@ NM_001613.2(ACTA2):c.201G>C (p.Leu67=) http://identifiers.org/clinvar/136328 ^@ NM_001625.2:c.+180G>T http://identifiers.org/clinvar/136379 ^@ NM_001182.4(ALDH7A1):c.39A>G (p.Ala13=) http://identifiers.org/clinvar/184229 ^@ NM_001042492.2(NF1):c.7410T>C (p.Asn2470=) http://identifiers.org/clinvar/187420 ^@ NM_007294.3(BRCA1):c.1926T>C (p.Asp642=) http://identifiers.org/clinvar/186720 ^@ NM_032043.2(BRIP1):c.1972C>T (p.Arg658Trp) http://identifiers.org/clinvar/184179 ^@ NM_000546.5(TP53):c.903A>G (p.Pro301=) http://identifiers.org/clinvar/184479 ^@ NM_000455.4(STK11):c.771G>A (p.Gly257=) http://identifiers.org/clinvar/188300 ^@ NM_181426.1(CCDC39):c.526_527delCT (p.Leu176Alafs) http://identifiers.org/clinvar/188353 ^@ NM_001080463.1(DYNC2H1):c.3500A>G (p.His1167Arg) http://identifiers.org/clinvar/188247 ^@ NM_000257.3(MYH7):c.3915_3916delGCinsAA (p.Leu1306Ile) http://identifiers.org/clinvar/188512 ^@ NM_000249.3(MLH1):c.2246_*158dup184 http://identifiers.org/clinvar/188462 ^@ NM_004415.3(DSP):c.2121C>T (p.Asn707=) http://identifiers.org/clinvar/188562 ^@ NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu) http://identifiers.org/clinvar/188662 ^@ NM_004572.3(PKP2):c.2329_2334delATCATTinsG (p.Ile777Alafs) http://identifiers.org/clinvar/188612 ^@ NM_000257.3(MYH7):c.1888+22C>T http://identifiers.org/clinvar/188410 ^@ NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) http://identifiers.org/clinvar/188712 ^@ NM_000182.4(HADHA):c.1967delT (p.Leu656Terfs) http://identifiers.org/clinvar/188913 ^@ NM_000128.3(F11):c.400C>T (p.Gln134Ter) http://identifiers.org/clinvar/189164 ^@ NM_000441.1(SLC26A4):c.2086C>T (p.Gln696Ter) http://identifiers.org/clinvar/188762 ^@ NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) http://identifiers.org/clinvar/189014 ^@ NM_014363.5(SACS):c.12851_12854delAGAG (p.Glu4284Alafs) http://identifiers.org/clinvar/188862 ^@ NM_000053.3(ATP7B):c.2009_2015delATATGCT (p.Tyr670Terfs) http://identifiers.org/clinvar/189064 ^@ NM_000295.4(SERPINA1):c.646+1G>T http://identifiers.org/clinvar/188812 ^@ NM_000520.5(HEXA):c.915_917delCTT (p.Phe305del) http://identifiers.org/clinvar/188963 ^@ NM_000057.3(BLM):c.2015A>G (p.Gln672Arg) http://identifiers.org/clinvar/189114 ^@ NM_000049.2(ASPA):c.237-2A>T http://identifiers.org/clinvar/189230 ^@ NM_001142800.1(EYS):c.6416G>A (p.Cys2139Tyr) http://identifiers.org/clinvar/189282 ^@ NM_014795.3(ZEB2):c.3391_3400delCCGAGGGATG (p.Pro1131Alafs) http://identifiers.org/clinvar/189341 ^@ NM_014822.3(SEC24D):c.2933A>C (p.Gln978Pro) http://identifiers.org/clinvar/189494 ^@ NM_000314.6(PTEN):c.-869C>T http://identifiers.org/clinvar/189432 ^@ NM_000314.6(PTEN):c.892delC (p.Gln298Lysfs) http://identifiers.org/clinvar/189704 ^@ NM_004992.3(MECP2):c.(?_378)_(1170_?)del (p.(?)) http://identifiers.org/clinvar/189654 ^@ NM_004992.3(MECP2):c.1127_1179del53 (p.Pro376Argfs) http://identifiers.org/clinvar/189604 ^@ NM_003159.2(CDKL5):c.-440G>T http://identifiers.org/clinvar/189554 ^@ NM_003159.2(CDKL5):c.1247_1248delAG (p.Glu416Valfs) http://identifiers.org/clinvar/227739 ^@ NM_213569.2(NEBL):c.204A>T (p.Thr68=) http://identifiers.org/clinvar/227839 ^@ NM_033056.3(PCDH15):c.3444C>T (p.Phe1148=) http://identifiers.org/clinvar/226497 ^@ NM_001171931.1(CDH23):c.3123C>T (p.Ser1041=) http://identifiers.org/clinvar/227789 ^@ NM_001277269.1(OTOG):c.6255C>T (p.Pro2085=) http://identifiers.org/clinvar/227589 ^@ NM_002471.3(MYH6):c.4137G>A (p.Thr1379=) http://identifiers.org/clinvar/229279 ^@ NM_153700.2(STRC):c.436G>A (p.Gly146Arg) http://identifiers.org/clinvar/227639 ^@ NM_016239.3(MYO15A):c.3659G>A (p.Gly1220Glu) http://identifiers.org/clinvar/228190 ^@ NM_000371.3(TTR):c.337-13T>C http://identifiers.org/clinvar/227689 ^@ NM_003803.3(MYOM1):c.120C>G (p.Thr40=) http://identifiers.org/clinvar/227539 ^@ NM_030662.3(MAP2K2):c.581-8G>A http://identifiers.org/clinvar/229329 ^@ NM_024022.2(TMPRSS3):c.783-13C>A http://identifiers.org/clinvar/226547 ^@ NM_000395.2(CSF2RB):c.1569-13T>G http://identifiers.org/clinvar/229379 ^@ NM_144991.2(TSPEAR):c.419C>A (p.Ala140Asp) http://identifiers.org/clinvar/234325 ^@ NM_004321.7(KIF1A):c.850G>A (p.Ala284Thr) http://identifiers.org/clinvar/234697 ^@ NM_004321.7(KIF1A):c.506G>A (p.Arg169Lys) http://identifiers.org/clinvar/234898 ^@ NM_000179.2(MSH6):c.950A>G (p.Lys317Arg) http://identifiers.org/clinvar/234747 ^@ NM_000179.2(MSH6):c.2195G>A (p.Arg732Gln) http://identifiers.org/clinvar/234647 ^@ NM_000179.2(MSH6):c.3356A>G (p.Glu1119Gly) http://identifiers.org/clinvar/234597 ^@ NM_000179.2(MSH6):c.4002-5_4010dupTTAAGGGAAGTTTG http://identifiers.org/clinvar/234547 ^@ NM_001167618.1(MLH1):c.-432_-431delGG http://identifiers.org/clinvar/234496 ^@ NM_000136.2(FANCC):c.-85C>T http://identifiers.org/clinvar/234848 ^@ NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) http://identifiers.org/clinvar/234377 ^@ NM_000431.3(MVK):c.32C>T (p.Pro11Leu) http://identifiers.org/clinvar/234797 ^@ NM_000059.3(BRCA2):c.1910-17T>G http://identifiers.org/clinvar/234445 ^@ NM_000059.3(BRCA2):c.9014_9015delGA (p.Arg3005Ilefs) http://identifiers.org/clinvar/234270 ^@ NM_000052.6(ATP7A):c.2530C>T (p.Arg844Cys) http://identifiers.org/clinvar/232821 ^@ NM_001128425.1(MUTYH):c.302T>C (p.Leu101Pro) http://identifiers.org/clinvar/231270 ^@ NM_000465.3(BARD1):c.121C>G (p.Leu41Val) http://identifiers.org/clinvar/232621 ^@ NM_000251.2(MSH2):c.366+4A>C http://identifiers.org/clinvar/230181 ^@ NM_000251.2(MSH2):c.1661+5G>A http://identifiers.org/clinvar/229931 ^@ NM_000179.2(MSH6):c.143C>G (p.Ala48Gly) http://identifiers.org/clinvar/232470 ^@ NM_000179.2(MSH6):c.2725T>C (p.Leu909=) http://identifiers.org/clinvar/230381 ^@ NM_000179.2(MSH6):c.3534T>A (p.Gly1178=) http://identifiers.org/clinvar/264056 ^@ NM_002474.2(MYH11):c.4543G>A (p.Asp1515Asn) http://identifiers.org/clinvar/263956 ^@ NM_003673.3(TCAP):c.52C>T (p.Arg18Trp) http://identifiers.org/clinvar/264612 ^@ NM_001943.4(DSG2):c.2792G>A (p.Arg931Lys) http://identifiers.org/clinvar/263555 ^@ NM_080647.1(TBX1):c.297G>A (p.Ala99=) http://identifiers.org/clinvar/263351 ^@ NM_080647.1(TBX1):c.1189A>C (p.Asn397His) http://identifiers.org/clinvar/264462 ^@ NM_001456.3(FLNA):c.2379T>C (p.Thr793=) http://identifiers.org/clinvar/264727 ^@ NM_001242896.1(DEPDC5):c.985delA (p.Thr329LeufsTer7) http://identifiers.org/clinvar/264982 ^@ NM_000059.3(BRCA2):c.7007+2456C>T http://identifiers.org/clinvar/264932 ^@ NM_000059.3(BRCA2):c.7805+1568A>G http://identifiers.org/clinvar/264882 ^@ NM_000059.3(BRCA2):c.7806-2101C>T http://identifiers.org/clinvar/264832 ^@ NM_007294.3(BRCA1):c.5278-550_5278-547del http://identifiers.org/clinvar/264782 ^@ NM_007294.3(BRCA1):c.4357+2313T>G http://identifiers.org/clinvar/265292 ^@ NM_025216.2(WNT10A):c.391G>A (p.Ala131Thr) http://identifiers.org/clinvar/265034 ^@ NM_001182.4(ALDH7A1):c.1406G>A (p.Arg469His) http://identifiers.org/clinvar/265188 ^@ NM_007327.3(GRIN1):c.1331C>T (p.Pro444Leu) http://identifiers.org/clinvar/265137 ^@ NM_000136.2(FANCC):c.996+1G>T http://identifiers.org/clinvar/265342 ^@ NM_000051.3(ATM):c.4084_4085delAG (p.Ser1362Hisfs) http://identifiers.org/clinvar/265241 ^@ NM_130799.2(MEN1):c.1464delG (p.Lys488Asnfs) http://identifiers.org/clinvar/265643 ^@ NM_019066.4(MAGEL2):c.1996C>T (p.Gln666Ter) http://identifiers.org/clinvar/265693 ^@ NM_024675.3(PALB2):c.1048delC (p.Gln350Lysfs) http://identifiers.org/clinvar/265492 ^@ NM_001127464.2(ZNF469):c.10248delG (p.Arg3417Glyfs) http://identifiers.org/clinvar/265442 ^@ NM_000267.3(NF1):c.204+1G>A http://identifiers.org/clinvar/265542 ^@ NM_138387.3(G6PC3):c.926T>G (p.Phe309Cys) http://identifiers.org/clinvar/265593 ^@ NM_030632.2(ASXL3):c.1777G>T (p.Glu593Ter) http://identifiers.org/clinvar/265392 ^@ NM_000276.3(OCRL):c.2360_2361delTG (p.Val787Glyfs) http://identifiers.org/clinvar/265087 ^@ NM_000397.3(CYBB):c.337+1G>T http://identifiers.org/clinvar/265782 ^@ NM_001142298.1(SQSTM1):c.34C>T (p.Arg12Ter) http://identifiers.org/clinvar/267284 ^@ NM_016341.3(PLCE1):c.6093T>C (p.Thr2031=) http://identifiers.org/clinvar/266603 ^@ NM_000059.3(BRCA2):c.104_110delTTTCTTC (p.Leu35Glnfs) http://identifiers.org/clinvar/267003 ^@ NM_000059.3(BRCA2):c.736_755del20 (p.Phe246Glnfs) http://identifiers.org/clinvar/267053 ^@ NM_000059.3(BRCA2):c.805dupA (p.Thr269Asnfs) http://identifiers.org/clinvar/266653 ^@ NM_000059.3(BRCA2):c.1693_1696delGCCA (p.Ala565Profs) http://identifiers.org/clinvar/266703 ^@ NM_000059.3(BRCA2):c.2490_2491insT (p.Val831Cysfs) http://identifiers.org/clinvar/266753 ^@ NM_000059.3(BRCA2):c.3492dupT (p.His1165Serfs) http://identifiers.org/clinvar/266803 ^@ NM_000059.3(BRCA2):c.4306_4307delAT (p.Ile1436Terfs) http://identifiers.org/clinvar/266853 ^@ NM_000059.3(BRCA2):c.5154_5158delTAATT (p.Asn1719Lysfs) http://identifiers.org/clinvar/266903 ^@ NM_000059.3(BRCA2):c.5918delA (p.Asn1973Ilefs) http://identifiers.org/clinvar/267103 ^@ NM_000059.3(BRCA2):c.8669dupT (p.Thr2891Asnfs) http://identifiers.org/clinvar/267153 ^@ NM_000059.3(BRCA2):c.9350delA (p.His3117Leufs) http://identifiers.org/clinvar/266553 ^@ NM_007294.3(BRCA1):c.5419dupA (p.Ile1807Asnfs) http://identifiers.org/clinvar/267222 ^@ NM_007294.3(BRCA1):c.5407_5414delGGTGTCCA (p.Gly1803Profs) http://identifiers.org/clinvar/267355 ^@ NM_001733.4(C1R):c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) http://identifiers.org/clinvar/267424 ^@ NM_017780.3(CHD7):c.3241A>T (p.Ile1081Phe) http://identifiers.org/clinvar/267660 ^@ NM_000059.3(BRCA2):c.6842-?_6937+?del http://identifiers.org/clinvar/267710 ^@ NM_000059.3(BRCA2):c.8954-?_9256+?del http://identifiers.org/clinvar/267560 ^@ NM_007294.3(BRCA1):c.4676-1G>T http://identifiers.org/clinvar/267510 ^@ NG_005905.2:g.124095_124103delATTACTAATins2 http://identifiers.org/clinvar/267610 ^@ NM_007294.3(BRCA1):c.640delG (p.Asp214Metfs) http://identifiers.org/clinvar/267789 ^@ NM_006087.3(TUBB4A):c.1099T>C (p.F367L) http://identifiers.org/clinvar/267840 ^@ 46;XY;t(15;17)(q24;q21.3)dn http://identifiers.org/clinvar/267890 ^@ 46;XX;t(7;12)(q11.2;q12).ish http://identifiers.org/clinvar/267940 ^@ 45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn http://identifiers.org/clinvar/267990 ^@ 46;XX;inv(2)(q13q14.2) http://identifiers.org/clinvar/268040 ^@ 46;XY;t(1;3)(p32.1;p25) http://identifiers.org/clinvar/268105 ^@ NM_181789.2(GLDN):c.1423G>C (p.Ala475Pro) http://identifiers.org/clinvar/291548 ^@ NM_001854.3(COL11A1):c.328G>C (p.Gly110Arg) http://identifiers.org/clinvar/291598 ^@ NM_015074.3(KIF1B):c.*456_*457delCT http://identifiers.org/clinvar/294800 ^@ NM_001005337.2(PKP1):c.136A>T (p.Met46Leu) http://identifiers.org/clinvar/294850 ^@ NM_001005337.2(PKP1):c.*673G>T http://identifiers.org/clinvar/336345 ^@ NM_139279.5(MCFD2):c.*2017C>T http://identifiers.org/clinvar/335995 ^@ NM_005633.3(SOS1):c.*1385A>G http://identifiers.org/clinvar/336045 ^@ NM_022436.2(ABCG5):c.905-3dupT http://identifiers.org/clinvar/336295 ^@ NM_001430.4(EPAS1):c.*602G>C http://identifiers.org/clinvar/336402 ^@ NM_002354.2(EPCAM):c.-192G>T http://identifiers.org/clinvar/345081 ^@ NM_198056.2(SCN5A):c.*1164G>T http://identifiers.org/clinvar/336902 ^@ NM_001002755.2(NFU1):c.-197T>G http://identifiers.org/clinvar/336652 ^@ NM_001114636.1(FANCL):c.*165A>G http://identifiers.org/clinvar/336702 ^@ NM_002618.3(PEX13):c.*2296G>A http://identifiers.org/clinvar/344381 ^@ NM_003722.4(TP63):c.409G>C (p.Asp137His) http://identifiers.org/clinvar/336752 ^@ NM_015910.5(WDPCP):c.*446C>T http://identifiers.org/clinvar/345381 ^@ NM_020208.3(SLC6A20):c.*1063_*1064dupAA http://identifiers.org/clinvar/336952 ^@ NM_003494.3(DYSF):c.1407G>A (p.Leu469=) http://identifiers.org/clinvar/345731 ^@ NM_002222.5(ITPR1):c.3633C>G (p.Ala1211=) http://identifiers.org/clinvar/344781 ^@ NM_000404.3(GLB1):c.*184G>A http://identifiers.org/clinvar/337002 ^@ NM_015120.4(ALMS1):c.-48C>T http://identifiers.org/clinvar/337052 ^@ NM_080916.2(DGUOK):c.*120G>A http://identifiers.org/clinvar/345781 ^@ NM_002222.5(ITPR1):c.7200C>T (p.Phe2400=) http://identifiers.org/clinvar/344881 ^@ NM_006371.4(CRTAP):c.*4256A>G http://identifiers.org/clinvar/337352 ^@ NM_022912.2(REEP1):c.*2546G>A http://identifiers.org/clinvar/344931 ^@ NM_001106.3(ACVR2B):c.*476C>T http://identifiers.org/clinvar/337402 ^@ NM_004836.6(EIF2AK3):c.2507A>T (p.Lys836Ile) http://identifiers.org/clinvar/337252 ^@ NM_000821.6(GGCX):c.*165A>G http://identifiers.org/clinvar/345131 ^@ NM_198056.2(SCN5A):c.-70C>T http://identifiers.org/clinvar/345281 ^@ NM_016006.4(ABHD5):c.*3806T>C http://identifiers.org/clinvar/345331 ^@ NM_002222.5(ITPR1):c.-342C>T http://identifiers.org/clinvar/345531 ^@ NM_024513.3(FYCO1):c.1015C>G (p.Arg339Gly) http://identifiers.org/clinvar/345581 ^@ NM_000316.2(PTH1R):c.299G>A (p.Gly100Asp) http://identifiers.org/clinvar/345631 ^@ NM_015175.2(NBEAL2):c.1871G>A (p.Arg624Gln) http://identifiers.org/clinvar/346920 ^@ NM_182896.2(ARL13B):c.*547C>T http://identifiers.org/clinvar/345981 ^@ NM_002292.3(LAMB2):c.4043A>G (p.Asn1348Ser) http://identifiers.org/clinvar/347320 ^@ NM_001148.4(ANK2):c.3927A>G (p.Glu1309=) http://identifiers.org/clinvar/347520 ^@ NM_152778.2(MFSD8):c.*2465A>G http://identifiers.org/clinvar/347720 ^@ NM_000901.4(NR3C2):c.2412T>C (p.Tyr804=) http://identifiers.org/clinvar/347870 ^@ NM_004744.4(LRAT):c.*2310A>T http://identifiers.org/clinvar/348020 ^@ NM_001166108.1(PALLD):c.-161A>T http://identifiers.org/clinvar/346870 ^@ NM_000313.3(PROS1):c.*686G>A http://identifiers.org/clinvar/361925 ^@ NM_003235.4(TG):c.2455C>T (p.Leu819Phe) http://identifiers.org/clinvar/358187 ^@ NM_183050.3(BCKDHB):c.*726A>G http://identifiers.org/clinvar/358287 ^@ NM_003227.3(TFR2):c.1682+9G>T http://identifiers.org/clinvar/358337 ^@ NM_000602.4(SERPINE1):c.*1668G>C http://identifiers.org/clinvar/362325 ^@ NM_006765.3(TUSC3):c.*1024T>C http://identifiers.org/clinvar/358637 ^@ NM_014491.3(FOXP2):c.*1675C>A http://identifiers.org/clinvar/362625 ^@ NM_006158.4(NEFL):c.*1198G>C http://identifiers.org/clinvar/362775 ^@ NM_000553.4(WRN):c.-618C>G http://identifiers.org/clinvar/363025 ^@ NM_000037.3(ANK1):c.1628C>T (p.Ala543Val) http://identifiers.org/clinvar/363125 ^@ NM_018105.2(THAP1):c.489C>G (p.Leu163=) http://identifiers.org/clinvar/363225 ^@ NM_005914.3(MCM4):c.891C>T (p.Pro297=) http://identifiers.org/clinvar/363325 ^@ NM_017813.4(IMPAD1):c.*5634A>G http://identifiers.org/clinvar/363475 ^@ NM_017780.3(CHD7):c.6775+6G>T http://identifiers.org/clinvar/355148 ^@ NM_002667.4(PLN):c.*1070T>A http://identifiers.org/clinvar/363575 ^@ NM_004820.4(CYP7B1):c.*402A>T http://identifiers.org/clinvar/355348 ^@ NM_006208.2(ENPP1):c.2101-10delC http://identifiers.org/clinvar/359776 ^@ NM_032581.3(FAM126A):c.930T>G (p.Ser310=) http://identifiers.org/clinvar/355498 ^@ NM_017651.4(AHI1):c.2814A>G (p.Pro938=) http://identifiers.org/clinvar/360026 ^@ NM_000823.3(GHRHR):c.-45C>T http://identifiers.org/clinvar/355698 ^@ NM_203395.2(IYD):c.*610G>T http://identifiers.org/clinvar/355798 ^@ NM_033071.3(SYNE1):c.*515T>C http://identifiers.org/clinvar/355598 ^@ NM_003764.3(STX11):c.26T>G (p.Leu9Arg) http://identifiers.org/clinvar/360326 ^@ NM_014855.2(AP5Z1):c.1334C>T (p.Pro445Leu) http://identifiers.org/clinvar/364414 ^@ NM_005502.3(ABCA1):c.3544G>A (p.Ala1182Thr) http://identifiers.org/clinvar/355648 ^@ NM_003764.3(STX11):c.*3277C>T http://identifiers.org/clinvar/364464 ^@ NM_005502.3(ABCA1):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/364564 ^@ NM_003640.4(IKBKAP):c.2803A>T (p.Thr935Ser) http://identifiers.org/clinvar/355948 ^@ NM_033071.3(SYNE1):c.423+11A>G http://identifiers.org/clinvar/364664 ^@ NM_000031.5(ALAD):c.-155C>G http://identifiers.org/clinvar/355748 ^@ NM_203395.2(IYD):c.*2981T>C http://identifiers.org/clinvar/364714 ^@ NM_012210.3(TRIM32):c.-109T>C http://identifiers.org/clinvar/364764 ^@ NM_018249.5(CDK5RAP2):c.2633C>T (p.Thr878Met) http://identifiers.org/clinvar/356098 ^@ NM_000367.4(TPMT):c.*1221T>C http://identifiers.org/clinvar/356148 ^@ NM_001080.3(ALDH5A1):c.*385G>C http://identifiers.org/clinvar/360726 ^@ NM_000941.2(POR):c.*137G>A http://identifiers.org/clinvar/356048 ^@ NM_003730.4(RNASET2):c.-203G>A http://identifiers.org/clinvar/360776 ^@ NM_000601.5(HGF):c.1904A>G (p.Tyr635Cys) http://identifiers.org/clinvar/365164 ^@ NM_001130438.2(SPTAN1):c.3762A>G (p.Gln1254=) http://identifiers.org/clinvar/356198 ^@ NM_000410.3(HFE):c.*296A>T http://identifiers.org/clinvar/356248 ^@ NM_000063.5(C2):c.1239G>C (p.Val413=) http://identifiers.org/clinvar/356298 ^@ NM_001710.5(CFB):c.*47C>T http://identifiers.org/clinvar/357137 ^@ NM_001024630.3(RUNX2):c.*2880C>A http://identifiers.org/clinvar/357087 ^@ NM_001024630.3(RUNX2):c.-64T>C http://identifiers.org/clinvar/303256 ^@ NM_022370.3(ROBO3):c.2621T>A (p.Leu874Gln) http://identifiers.org/clinvar/303406 ^@ NM_016952.4(CDON):c.*2580G>C http://identifiers.org/clinvar/303606 ^@ NM_000890.3(KCNJ5):c.-293_-291delCACinsGAGAGAGAGAGAGAGAGAG http://identifiers.org/clinvar/303656 ^@ NM_000890.3(KCNJ5):c.*976G>A http://identifiers.org/clinvar/303756 ^@ NM_000352.4(ABCC8):c.3975C>T (p.Tyr1325=) http://identifiers.org/clinvar/303856 ^@ NM_181507.1(HPS5):c.*655A>C http://identifiers.org/clinvar/303956 ^@ NM_003476.4(CSRP3):c.-157G>A http://identifiers.org/clinvar/298628 ^@ NM_000102.3(CYP17A1):c.-15C>T http://identifiers.org/clinvar/298728 ^@ NM_000494.3(COL17A1):c.1654G>T (p.Val552Leu) http://identifiers.org/clinvar/298828 ^@ NM_001134363.2(RBM20):c.*1201T>A http://identifiers.org/clinvar/298978 ^@ NM_000141.4(FGFR2):c.*1319A>G http://identifiers.org/clinvar/299028 ^@ NM_001099667.1(ARMS2):c.8G>A (p.Arg3His) http://identifiers.org/clinvar/299078 ^@ NM_001609.3(ACADSB):c.682-7T>C http://identifiers.org/clinvar/313154 ^@ NM_006194.3(PAX9):c.-488C>T http://identifiers.org/clinvar/299228 ^@ NM_021980.4(OPTN):c.*386C>A http://identifiers.org/clinvar/299328 ^@ NM_001081.3(CUBN):c.*737T>C http://identifiers.org/clinvar/298928 ^@ NM_004132.4(HABP2):c.*467C>T http://identifiers.org/clinvar/299478 ^@ NM_001081.3(CUBN):c.4797G>T (p.Leu1599Phe) http://identifiers.org/clinvar/299528 ^@ NM_001081.3(CUBN):c.1111+5T>C http://identifiers.org/clinvar/299128 ^@ NM_001609.3(ACADSB):c.*2175A>C http://identifiers.org/clinvar/314293 ^@ NM_000428.2(LTBP2):c.2789-9T>C http://identifiers.org/clinvar/314343 ^@ NM_014239.3(EIF2B2):c.*388C>T http://identifiers.org/clinvar/314643 ^@ NM_004863.3(SPTLC2):c.*1193G>C http://identifiers.org/clinvar/314893 ^@ NM_006329.3(FBLN5):c.-458G>A http://identifiers.org/clinvar/314993 ^@ NM_004239.4(TRIP11):c.-337C>T http://identifiers.org/clinvar/315043 ^@ NM_177438.2(DICER1):c.*4260T>C http://identifiers.org/clinvar/315293 ^@ NM_139057.3(ADAMTS17):c.1353G>A (p.Thr451=) http://identifiers.org/clinvar/315343 ^@ NM_144599.4(NIPA1):c.*4885T>C http://identifiers.org/clinvar/300467 ^@ NM_022124.5(CDH23):c.8899C>T (p.Arg2967Cys) http://identifiers.org/clinvar/300517 ^@ NM_002778.3(PSAP):c.1012A>G (p.Ile338Val) http://identifiers.org/clinvar/315693 ^@ NM_005159.4(ACTC1):c.*393G>T http://identifiers.org/clinvar/309660 ^@ NM_002272.3(KRT4):c.*267G>A http://identifiers.org/clinvar/309710 ^@ NM_002272.3(KRT4):c.205C>T (p.Arg69Ter) http://identifiers.org/clinvar/317733 ^@ NM_000246.3(CIITA):c.*236G>A http://identifiers.org/clinvar/317783 ^@ NM_004862.3(LITAF):c.241G>A (p.Val81Met) http://identifiers.org/clinvar/317933 ^@ NM_001287.5(CLCN7):c.*414C>T http://identifiers.org/clinvar/317983 ^@ NM_014714.3(IFT140):c.*23C>T http://identifiers.org/clinvar/318033 ^@ NM_001143979.1(NDE1):c.-186G>T http://identifiers.org/clinvar/310060 ^@ NM_000552.4(VWF):c.5493C>T (p.Tyr1831=) http://identifiers.org/clinvar/310160 ^@ NM_001038.5(SCNN1A):c.-155G>A http://identifiers.org/clinvar/310360 ^@ NM_000365.5(TPI1):c.321T>C (p.Asp107=) http://identifiers.org/clinvar/310460 ^@ NM_001131025.1(PEX5):c.*1134T>A http://identifiers.org/clinvar/310765 ^@ NM_003276.2(TMPO):c.863T>C (p.Leu288Ser) http://identifiers.org/clinvar/312504 ^@ NM_052910.2(SLITRK1):c.294T>C (p.Val98=) http://identifiers.org/clinvar/312554 ^@ NM_005708.4(GPC6):c.1570C>T (p.Arg524Trp) http://identifiers.org/clinvar/312604 ^@ NM_005708.4(GPC6):c.*4066A>C http://identifiers.org/clinvar/312704 ^@ NM_022489.3(INF2):c.2987C>T (p.Thr996Ile) http://identifiers.org/clinvar/338491 ^@ NM_000457.4(HNF4A):c.*3018G>A http://identifiers.org/clinvar/312854 ^@ NM_002471.3(MYH6):c.3979-8C>A http://identifiers.org/clinvar/313104 ^@ NM_020529.2(NFKBIA):c.*142_*143dupTT http://identifiers.org/clinvar/320385 ^@ NM_000353.2(TAT):c.*1276delT http://identifiers.org/clinvar/320435 ^@ NM_001361.4(DHODH):c.881G>A (p.Gly294Asp) http://identifiers.org/clinvar/339092 ^@ NM_001001433.2(STX16):c.*2137C>T http://identifiers.org/clinvar/320535 ^@ NM_021615.4(CHST6):c.*3516T>C http://identifiers.org/clinvar/313354 ^@ NM_001202.5(BMP4):c.215A>G (p.Gln72Arg) http://identifiers.org/clinvar/320635 ^@ NM_001130089.1(KARS):c.1000-10T>G http://identifiers.org/clinvar/313404 ^@ NM_000161.2(GCH1):c.-121T>C http://identifiers.org/clinvar/320685 ^@ NM_022041.3(GAN):c.*1068T>G http://identifiers.org/clinvar/313454 ^@ NM_005982.3(SIX1):c.*602G>C http://identifiers.org/clinvar/321135 ^@ NM_020686.5(ABAT):c.*1965C>T http://identifiers.org/clinvar/320935 ^@ NM_001127464.2(ZNF469):c.4926C>A (p.Ala1642=) http://identifiers.org/clinvar/339792 ^@ NM_001754.4(RUNX1):c.*4250C>T http://identifiers.org/clinvar/321285 ^@ NM_003119.3(SPG7):c.1775T>G (p.Met592Arg) http://identifiers.org/clinvar/312354 ^@ NM_000053.3(ATP7B):c.*1385G>A http://identifiers.org/clinvar/321539 ^@ NM_000833.4(GRIN2A):c.*4919C>T http://identifiers.org/clinvar/312404 ^@ NM_000053.3(ATP7B):c.-74C>T http://identifiers.org/clinvar/340142 ^@ NM_000211.4(ITGB2):c.1893C>T (p.Cys631=) http://identifiers.org/clinvar/321589 ^@ NM_000833.4(GRIN2A):c.*650C>G http://identifiers.org/clinvar/340192 ^@ NM_130445.3(COL18A1):c.217G>A (p.Asp73Asn) http://identifiers.org/clinvar/340242 ^@ NM_130445.3(COL18A1):c.2340G>C (p.Gln780His) http://identifiers.org/clinvar/312454 ^@ NM_000115.4(EDNRB):c.*1546A>G http://identifiers.org/clinvar/326477 ^@ NM_001943.4(DSG2):c.990C>T (p.Asn330=) http://identifiers.org/clinvar/326677 ^@ NM_032978.6(DTNA):c.*357C>A http://identifiers.org/clinvar/328466 ^@ NM_000215.3(JAK3):c.*1548C>T http://identifiers.org/clinvar/368343 ^@ NM_003334.3(UBA1):c.2308A>C (p.Asn770His) http://identifiers.org/clinvar/329116 ^@ NM_000540.2(RYR1):c.12624+9A>G http://identifiers.org/clinvar/327466 ^@ NM_005603.4(ATP8B1):c.3696G>A (p.Ser1232=) http://identifiers.org/clinvar/327666 ^@ NM_133459.3(CCBE1):c.*1737C>T http://identifiers.org/clinvar/327816 ^@ NM_005786.5(TSHZ1):c.1033G>A (p.Val345Ile) http://identifiers.org/clinvar/328416 ^@ NM_000435.2(NOTCH3):c.825G>A (p.Val275=) http://identifiers.org/clinvar/328516 ^@ NM_000215.3(JAK3):c.1548C>T (p.Ile516=) http://identifiers.org/clinvar/328666 ^@ NM_001031726.3(C19orf12):c.*3304T>C http://identifiers.org/clinvar/339042 ^@ NM_001001433.2(STX16):c.-63T>C http://identifiers.org/clinvar/339442 ^@ NM_025219.2(DNAJC5):c.*4129G>C http://identifiers.org/clinvar/339492 ^@ NM_012469.3(PRPF6):c.*19C>T http://identifiers.org/clinvar/339692 ^@ NM_000628.4(IL10RB):c.131C>T (p.Ala44Val) http://identifiers.org/clinvar/339742 ^@ NM_000219.5(KCNE1):c.*1666G>A http://identifiers.org/clinvar/339842 ^@ NM_001754.4(RUNX1):c.*1720C>T http://identifiers.org/clinvar/339942 ^@ NM_000411.6(HLCS):c.*1324T>C http://identifiers.org/clinvar/340092 ^@ NM_000071.2(CBS):c.-50dupA http://identifiers.org/clinvar/340342 ^@ NM_001848.2(COL6A1):c.*419A>G http://identifiers.org/clinvar/338992 ^@ NM_004738.4(VAPB):c.*4327A>G http://identifiers.org/clinvar/341082 ^@ NM_000268.3(NF2):c.*266G>T http://identifiers.org/clinvar/339292 ^@ NM_001853.3(COL9A3):c.1402-6C>T http://identifiers.org/clinvar/339342 ^@ NM_172107.3(KCNQ2):c.-150C>A http://identifiers.org/clinvar/341332 ^@ NM_000362.4(TIMP3):c.-533G>A http://identifiers.org/clinvar/339592 ^@ NM_000933.3(PLCB4):c.3372+11T>C http://identifiers.org/clinvar/377797 ^@ NM_203447.3(DOCK8):c.1582C>A (p.Leu528Met) http://identifiers.org/clinvar/377747 ^@ NM_004376.6(COX15):c.696T>G (p.Val232=) http://identifiers.org/clinvar/386844 ^@ NM_000051.3(ATM):c.2839-4T>C http://identifiers.org/clinvar/388483 ^@ NM_001134363.2(RBM20):c.2358C>T (p.Asp786=) http://identifiers.org/clinvar/383002 ^@ NM_001278503.1(STT3A):c.177C>T (p.Phe59=) http://identifiers.org/clinvar/391922 ^@ NM_004519.3(KCNQ3):c.2388C>T (p.Asn796=) http://identifiers.org/clinvar/378896 ^@ NM_201590.2(CACNB2):c.*10G>C http://identifiers.org/clinvar/391622 ^@ NM_015631.5(TCTN3):c.1575G>A (p.Gln525=) http://identifiers.org/clinvar/388783 ^@ NM_002180.2(IGHMBP2):c.-34C>G http://identifiers.org/clinvar/377697 ^@ NM_018941.3(CLN8):c.-120G>A http://identifiers.org/clinvar/393261 ^@ NM_000051.3(ATM):c.7166C>T (p.Ser2389Leu) http://identifiers.org/clinvar/388733 ^@ NM_001164277.1(SLC37A4):c.540C>T (p.Ser180=) http://identifiers.org/clinvar/386894 ^@ NM_012210.3(TRIM32):c.1068C>T (p.Leu356=) http://identifiers.org/clinvar/391722 ^@ NM_018389.4(SLC35C1):c.1055C>A (p.Pro352His) http://identifiers.org/clinvar/386494 ^@ NM_004517.3(ILK):c.255+10A>G http://identifiers.org/clinvar/389333 ^@ NM_020822.2(KCNT1):c.1323C>T (p.Asp441=) http://identifiers.org/clinvar/391372 ^@ NM_025215.5(PUS1):c.855G>A (p.Lys285=) http://identifiers.org/clinvar/386444 ^@ NM_020822.2(KCNT1):c.2142G>A (p.Leu714=) http://identifiers.org/clinvar/391872 ^@ NM_014363.5(SACS):c.8899C>A (p.Arg2967Ser) http://identifiers.org/clinvar/393211 ^@ NM_017617.4(NOTCH1):c.5224G>T (p.Ala1742Ser) http://identifiers.org/clinvar/386144 ^@ NM_006231.3(POLE):c.1687-4C>T http://identifiers.org/clinvar/388083 ^@ NM_000059.3(BRCA2):c.9256+14T>G http://identifiers.org/clinvar/388983 ^@ NM_000077.4(CDKN2A):c.150+20C>G http://identifiers.org/clinvar/383152 ^@ NM_203447.3(DOCK8):c.6138C>G (p.Leu2046=) http://identifiers.org/clinvar/377847 ^@ NM_000136.2(FANCC):c.906C>G (p.Leu302=) http://identifiers.org/clinvar/382752 ^@ NM_153026.2(PRICKLE1):c.133-16A>C http://identifiers.org/clinvar/382401 ^@ NM_032374.4(APOPT1):c.424+11T>G http://identifiers.org/clinvar/390722 ^@ NM_000257.3(MYH7):c.210C>T (p.Thr70=) http://identifiers.org/clinvar/382952 ^@ NM_000137.2(FAH):c.554-20T>G http://identifiers.org/clinvar/392861 ^@ NM_024698.5(SLC25A22):c.190G>A (p.Gly64Ser) http://identifiers.org/clinvar/387144 ^@ NM_019109.4(ALG1):c.863-15A>C http://identifiers.org/clinvar/391322 ^@ NM_000814.5(GABRB3):c.753T>C (p.Tyr251=) http://identifiers.org/clinvar/382451 ^@ NM_004360.4(CDH1):c.2440-11T>A http://identifiers.org/clinvar/387983 ^@ NM_015386.2(COG4):c.845-12C>G http://identifiers.org/clinvar/388283 ^@ NM_144997.5(FLCN):c.204C>T (p.Ser68=) http://identifiers.org/clinvar/47459 ^@ NM_133378.4(TTN):c.79206C>T (p.Gly26402=) http://identifiers.org/clinvar/47509 ^@ NM_133378.4(TTN):c.83774A>G (p.Glu27925Gly) http://identifiers.org/clinvar/47559 ^@ NM_133378.4(TTN):c.87851T>C (p.Leu29284Pro) http://identifiers.org/clinvar/47609 ^@ NM_133378.4(TTN):c.91105A>G (p.Lys30369Glu) http://identifiers.org/clinvar/47659 ^@ NM_133378.4(TTN):c.95659C>T (p.Arg31887Cys) http://identifiers.org/clinvar/47709 ^@ NM_133378.4(TTN):c.98876A>T (p.Glu32959Val) http://identifiers.org/clinvar/47759 ^@ NM_133379.4(TTN):c.13633G>A (p.Ala4545Thr) http://identifiers.org/clinvar/47809 ^@ NM_001256850.1(TTN):c.10555G>A (p.Val3519Met) http://identifiers.org/clinvar/47859 ^@ NM_138691.2(TMC1):c.141T>A (p.Asp47Glu) http://identifiers.org/clinvar/47909 ^@ NM_144573.3(NEXN):c.677delC (p.Ser226Tyrfs) http://identifiers.org/clinvar/47959 ^@ NM_147196.2(TMIE):c.34G>T (p.Val12Leu) http://identifiers.org/clinvar/48011 ^@ NM_005709.3(USH1C):c.264G>A (p.Val88=) http://identifiers.org/clinvar/48061 ^@ NM_170707.3(LMNA):c.348dupG (p.Lys117Glufs) http://identifiers.org/clinvar/48111 ^@ NM_000337.5(SGCD):c.-303A>T http://identifiers.org/clinvar/48161 ^@ NM_178335.2(CCDC50):c.995T>C (p.Met332Thr) http://identifiers.org/clinvar/48211 ^@ NM_194248.2(OTOF):c.2972A>G (p.Asn991Ser) http://identifiers.org/clinvar/48261 ^@ NM_194248.2(OTOF):c.5418C>T (p.Ile1806=) http://identifiers.org/clinvar/48311 ^@ NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) http://identifiers.org/clinvar/48362 ^@ NM_206933.2(USH2A):c.10922G>A (p.Arg3641Lys) http://identifiers.org/clinvar/48412 ^@ NM_206933.2(USH2A):c.13130C>A (p.Ser4377Ter) http://identifiers.org/clinvar/48462 ^@ NM_206933.2(USH2A):c.15377T>C (p.Ile5126Thr) http://identifiers.org/clinvar/111 ^@ NM_022067.3(VIPAS39):c.535C>T (p.Gln179Ter) http://identifiers.org/clinvar/206 ^@ NM_001194958.2(KCNJ18):c.614G>A (p.Arg205His) http://identifiers.org/clinvar/247 ^@ NM_000398.6(CYB5R3):c.229C>T (p.Gln77Ter) http://identifiers.org/clinvar/454 ^@ NM_000097.5(CPOX):c.127_131dupGCAGC (p.Gly45Glnfs) http://identifiers.org/clinvar/463 ^@ NM_000097.5(CPOX):c.835G>C (p.Gly279Arg) http://identifiers.org/clinvar/513 ^@ NM_001142446.1(ANK1):c.1900-17G>A http://identifiers.org/clinvar/550 ^@ NM_001012515.2(FECH):c.68-23C>T http://identifiers.org/clinvar/704 ^@ NM_000512.4(GALNS):c.1417C>T (p.Gln473Ter) http://identifiers.org/clinvar/727 ^@ NM_139075.3(TPCN2):c.1450A>T (p.Met484Leu) http://identifiers.org/clinvar/804 ^@ NM_000038.5(APC):c.509_512delATAG (p.Asp170Valfs) http://identifiers.org/clinvar/895 ^@ NM_000181.3(GUSB):c.646C>T (p.Arg216Trp) http://identifiers.org/clinvar/960 ^@ NM_000275.2(OCA2):c.2037G>C (p.Trp679Cys) http://identifiers.org/clinvar/1151 ^@ NM_001178007.1(BBS12):c.1115_1116delTT (p.Phe372Terfs) http://identifiers.org/clinvar/1197 ^@ MARVELD2, IVS4DS, T-C, +2 http://identifiers.org/clinvar/1241 ^@ NM_032753.3(RAX2):c.409G>C (p.Gly137Arg) http://identifiers.org/clinvar/2014 ^@ NM_001134831.1(AHI1):c.1765C>T (p.Arg589Ter) http://identifiers.org/clinvar/2105 ^@ NM_178510.1(ANKK1):c.2137G>A (p.Glu713Lys) http://identifiers.org/clinvar/2150 ^@ NM_133433.3(NIPBL):c.4606C>T (p.Arg1536Ter) http://identifiers.org/clinvar/2198 ^@ NM_001145809.1(MYH14):c.2299C>A (p.Arg767Ser) http://identifiers.org/clinvar/2424 ^@ NM_001875.4(CPS1):c.2945G>A (p.Gly982Asp) http://identifiers.org/clinvar/2515 ^@ SOX9, 30-BP DEL http://identifiers.org/clinvar/2563 ^@ NM_024079.4(ALG8):c.824G>A (p.Gly275Asp) http://identifiers.org/clinvar/2609 ^@ NM_000049.2(ASPA):c.693C>A (p.Tyr231Ter) http://identifiers.org/clinvar/2655 ^@ NM_032609.2(COX4I2):c.412G>A (p.Glu138Lys) http://identifiers.org/clinvar/2700 ^@ NM_033087.3(ALG2):c.393G>T (p.Lys131Asn) http://identifiers.org/clinvar/2747 ^@ NM_004183.3(BEST1):c.614T>C (p.Ile205Thr) http://identifiers.org/clinvar/2792 ^@ NM_000158.3(GBE1):c.691+5G>C http://identifiers.org/clinvar/2837 ^@ ACAT1, IVS11, T-C, +2 http://identifiers.org/clinvar/2883 ^@ NM_025193.3(HSD3B7):c.322+1G>T http://identifiers.org/clinvar/2928 ^@ NM_001033503.2(SAR1B):c.364G>T (p.Glu122Ter) http://identifiers.org/clinvar/2973 ^@ NM_000271.4(NPC1):c.3591+1G>A http://identifiers.org/clinvar/3018 ^@ NM_000051.3(ATM):c.8578_8580delTCT (p.Ser2860del) http://identifiers.org/clinvar/3068 ^@ NM_000487.5(ARSA):c.506C>G (p.Pro169Arg) http://identifiers.org/clinvar/3115 ^@ NM_000218.2(KCNQ1):c.916G>A (p.Gly306Arg) http://identifiers.org/clinvar/3167 ^@ NM_000187.3(HGD):c.990G>T (p.Arg330Ser) http://identifiers.org/clinvar/3212 ^@ FKTN, 473-BP DEL, NT5370 http://identifiers.org/clinvar/3261 ^@ NM_000529.2(MC2R):c.382C>T (p.Arg128Cys) http://identifiers.org/clinvar/10417 ^@ NM_000402.4(G6PD):c.683G>A (p.Arg228His) http://identifiers.org/clinvar/10466 ^@ NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) http://identifiers.org/clinvar/10510 ^@ NM_000513.2(OPN1MW):c.-112A>C http://identifiers.org/clinvar/10557 ^@ STS, IVS8DS, G-T, +1 http://identifiers.org/clinvar/10601 ^@ NM_000133.3(F9):c.697G>A (p.Ala233Thr) http://identifiers.org/clinvar/10647 ^@ NM_000133.3(F9):c.1070G>A (p.Gly357Glu) http://identifiers.org/clinvar/10693 ^@ NM_000266.3(NDP):c.313G>A (p.Ala105Thr) http://identifiers.org/clinvar/10738 ^@ NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) http://identifiers.org/clinvar/10783 ^@ NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter) http://identifiers.org/clinvar/10828 ^@ NM_004463.2(FGD1):c.935C>T (p.Pro312Leu) http://identifiers.org/clinvar/10873 ^@ NM_000284.3(PDHA1):c.1133G>A (p.Arg378His) http://identifiers.org/clinvar/10919 ^@ NM_017745.5(BCOR):c.2613delC (p.Phe871Leufs) http://identifiers.org/clinvar/10964 ^@ NM_000475.4(NR0B1):c.1146G>T (p.Lys382Asn) http://identifiers.org/clinvar/11009 ^@ NM_000531.5(OTC):c.1033T>G (p.Tyr345Asp) http://identifiers.org/clinvar/11054 ^@ NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) http://identifiers.org/clinvar/11144 ^@ NM_182680.1(AMELX):c.420delC (p.Tyr141Thrfs) http://identifiers.org/clinvar/11190 ^@ ARX, 32-BP DEL, NT420 http://identifiers.org/clinvar/11235 ^@ DMD, IVS1, G-T, +1 http://identifiers.org/clinvar/11280 ^@ NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter) http://identifiers.org/clinvar/11325 ^@ NM_004085.3(TIMM8A):c.133-23A>C http://identifiers.org/clinvar/11371 ^@ NM_000061.2(BTK):c.1125T>G (p.Tyr375Ter) http://identifiers.org/clinvar/11429 ^@ NM_001129765.1(NSDHL):c.262C>T (p.Arg88Ter) http://identifiers.org/clinvar/11480 ^@ NM_014271.3(IL1RAPL1):c.1377C>A (p.Tyr459Ter) http://identifiers.org/clinvar/11531 ^@ NM_003688.3(CASK):c.915G>A (p.Lys305=) http://identifiers.org/clinvar/11581 ^@ OPHN1, 2-BP DEL, NT642 http://identifiers.org/clinvar/11631 ^@ TSPAN7, 2-BP DEL, 564GT http://identifiers.org/clinvar/11682 ^@ NM_000307.4(POU3F4):c.935C>T (p.Ala312Val) http://identifiers.org/clinvar/11732 ^@ NM_000489.4(ATRX):c.5131C>T (p.Pro1711Ser) http://identifiers.org/clinvar/11784 ^@ NM_000052.6(ATP7A):c.2938C>T (p.Arg980Ter) http://identifiers.org/clinvar/11834 ^@ NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) http://identifiers.org/clinvar/11884 ^@ PRSS1, TRIPLICATION http://identifiers.org/clinvar/11934 ^@ NM_000431.3(MVK):c.928G>A (p.Val310Met) http://identifiers.org/clinvar/11985 ^@ NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) http://identifiers.org/clinvar/12036 ^@ NM_000892.4(KLKB1):c.367G>A (p.Gly123Arg) http://identifiers.org/clinvar/12086 ^@ NM_000131.4(F7):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/12136 ^@ NM_000387.5(SLC25A20):c.84delT (p.His29Thrfs) http://identifiers.org/clinvar/12190 ^@ NM_001166120.1(HSD3B2):c.424G>A (p.Glu142Lys) http://identifiers.org/clinvar/12242 ^@ CDH1, 1-BP INS, 1711G http://identifiers.org/clinvar/12292 ^@ NM_080911.2(UNG):c.752T>C (p.Phe251Ser) http://identifiers.org/clinvar/12447 ^@ NM_152263.3(TPM3):c.857A>C (p.Ter286Ser) http://identifiers.org/clinvar/12497 ^@ NM_000359.2(TGM1):c.281G>A (p.Gly94Asp) http://identifiers.org/clinvar/12547 ^@ NM_001128177.1(THRB):c.1324A>G (p.Met442Val) http://identifiers.org/clinvar/12598 ^@ PDGFB, 135-BP DEL, IVS5 http://identifiers.org/clinvar/12648 ^@ NM_000458.3(HNF1B):c.46delC (p.Leu16Cysfs) http://identifiers.org/clinvar/12699 ^@ TG, 1-BP DEL, 1143C http://identifiers.org/clinvar/12750 ^@ NM_198053.2(CD247):c.208_209delCAinsTG (p.Gln70Trp) http://identifiers.org/clinvar/13452 ^@ NM_000371.3(TTR):c.76G>A (p.Gly26Ser) http://identifiers.org/clinvar/13503 ^@ NM_002693.2(POLG):c.752C>T (p.Thr251Ile) http://identifiers.org/clinvar/13553 ^@ NM_000212.2(ITGB3):c.719G>A (p.Arg240Gln) http://identifiers.org/clinvar/37623 ^@ NM_007294.3(BRCA1):c.5030_5033delCTAA (p.Thr1677Ilefs) http://identifiers.org/clinvar/37677 ^@ NM_007294.3(BRCA1):c.548-3T>C http://identifiers.org/clinvar/37731 ^@ NM_000059.3(BRCA2):c.1238delT (p.Leu413Hisfs) http://identifiers.org/clinvar/37783 ^@ NM_000059.3(BRCA2):c.235A>G (p.Ile79Val) http://identifiers.org/clinvar/37836 ^@ NM_000059.3(BRCA2):c.3330A>G (p.Glu1110=) http://identifiers.org/clinvar/37888 ^@ NM_000059.3(BRCA2):c.4202G>C (p.Gly1401Ala) http://identifiers.org/clinvar/37941 ^@ NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) http://identifiers.org/clinvar/38099 ^@ NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter) http://identifiers.org/clinvar/38149 ^@ NM_000059.3(BRCA2):c.8297delC (p.Thr2766Asnfs) http://identifiers.org/clinvar/38199 ^@ NM_000059.3(BRCA2):c.8954-5_8954-2delAACA http://identifiers.org/clinvar/38249 ^@ NM_000059.3(BRCA2):c.9580_9581delCC (p.Pro3194Asnfs) http://identifiers.org/clinvar/38570 ^@ NM_000060.4(BTD):c.1171C>T (p.Pro391Ser) http://identifiers.org/clinvar/38311 ^@ NM_000168.5(GLI3):c.2172dupC (p.Asn725Glnfs) http://identifiers.org/clinvar/38366 ^@ NM_002769.4(PRSS1):c.86A>C (p.Asn29Thr) http://identifiers.org/clinvar/38423 ^@ NM_024312.4(GNPTAB):c.3231_3234dupCTAC (p.Tyr1079Leufs) http://identifiers.org/clinvar/38751 ^@ NM_000495.4(COL4A5):c.665T>G (p.Phe222Cys) http://identifiers.org/clinvar/38850 ^@ NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) http://identifiers.org/clinvar/38925 ^@ NM_001099274.1(TINF2):c.862T>C (p.Phe288Leu) http://identifiers.org/clinvar/38976 ^@ NM_004614.4(TK2):c.150dupA (p.Ser51Ilefs) http://identifiers.org/clinvar/39027 ^@ NM_024312.4(GNPTAB):c.121delG (p.Val41Phefs) http://identifiers.org/clinvar/39077 ^@ NM_024312.4(GNPTAB):c.3523_3529delATGTTCC (p.Met1175Profs) http://identifiers.org/clinvar/39134 ^@ NM_198578.3(LRRK2):c.149A>G (p.His50Arg) http://identifiers.org/clinvar/39184 ^@ NM_198578.3(LRRK2):c.4323C>T (p.Arg1441=) http://identifiers.org/clinvar/39234 ^@ NM_198578.3(LRRK2):c.7155A>G (p.Gly2385=) http://identifiers.org/clinvar/39285 ^@ NR_001566.1(TERC):n.216_229delGGCGGGTCGCCTGC http://identifiers.org/clinvar/39447 ^@ NM_003863.3(DPM2):c.4_93del90 http://identifiers.org/clinvar/39754 ^@ NM_145239.2(PRRT2):c.629delC (p.Pro210Glnfs) http://identifiers.org/clinvar/39804 ^@ NM_003106.3(SOX2):c.143_144delTCinsAA (p.Phe48Ter) http://identifiers.org/clinvar/39855 ^@ NM_015295.2(SMCHD1):c.1302_1306delTGATA (p.Tyr434Terfs) http://identifiers.org/clinvar/40010 ^@ KLHL10, IVS3, 4-BP DEL, +121 http://identifiers.org/clinvar/40181 ^@ ZBTB24, 2-BP DEL, 396TA http://identifiers.org/clinvar/52107 ^@ NM_000059.3(BRCA2):c.6450dupA (p.Val2151Serfs) http://identifiers.org/clinvar/52158 ^@ NM_000059.3(BRCA2):c.6688delA (p.Ile2230Leufs) http://identifiers.org/clinvar/52208 ^@ NM_000059.3(BRCA2):c.6842-11T>A http://identifiers.org/clinvar/52259 ^@ NM_000059.3(BRCA2):c.7056T>A (p.Pro2352=) http://identifiers.org/clinvar/52310 ^@ NM_000059.3(BRCA2):c.7322delG (p.Gly2441Alafs) http://identifiers.org/clinvar/52360 ^@ NM_000059.3(BRCA2):c.7610A>G (p.His2537Arg) http://identifiers.org/clinvar/52411 ^@ NM_000059.3(BRCA2):c.7805+3A>C http://identifiers.org/clinvar/52461 ^@ NM_000059.3(BRCA2):c.7987G>A (p.Glu2663Lys) http://identifiers.org/clinvar/52511 ^@ NM_000059.3(BRCA2):c.8140C>T (p.Gln2714Ter) http://identifiers.org/clinvar/52562 ^@ NM_000059.3(BRCA2):c.8359C>T (p.Arg2787Cys) http://identifiers.org/clinvar/52612 ^@ NM_000059.3(BRCA2):c.8528A>G (p.Asn2843Ser) http://identifiers.org/clinvar/52664 ^@ NM_000059.3(BRCA2):c.8732C>T (p.Ala2911Val) http://identifiers.org/clinvar/52714 ^@ NM_000059.3(BRCA2):c.8961_8964delGAGT (p.Ser2988Phefs) http://identifiers.org/clinvar/52765 ^@ NM_000059.3(BRCA2):c.9161C>A (p.Pro3054His) http://identifiers.org/clinvar/52816 ^@ NM_000059.3(BRCA2):c.9331G>T (p.Glu3111Ter) http://identifiers.org/clinvar/52867 ^@ NM_000059.3(BRCA2):c.9542T>G (p.Met3181Arg) http://identifiers.org/clinvar/52917 ^@ NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) http://identifiers.org/clinvar/52967 ^@ NM_000218.2(KCNQ1):c.1172C>T (p.Thr391Ile) http://identifiers.org/clinvar/53017 ^@ NM_000218.2(KCNQ1):c.1772G>A (p.Arg591His) http://identifiers.org/clinvar/53067 ^@ NM_000218.2(KCNQ1):c.562delT (p.Trp188Glyfs) http://identifiers.org/clinvar/53118 ^@ NM_000218.2(KCNQ1):c.860C>A (p.Ala287Glu) http://identifiers.org/clinvar/53170 ^@ NM_000492.3(CFTR):c.1029delC (p.Cys343Terfs) http://identifiers.org/clinvar/53221 ^@ NM_000492.3(CFTR):c.1235delC (p.Ala412Glufs) http://identifiers.org/clinvar/53273 ^@ NM_000492.3(CFTR):c.1510G>C (p.Glu504Gln) http://identifiers.org/clinvar/53324 ^@ NM_000492.3(CFTR):c.1663A>G (p.Arg555Gly) http://identifiers.org/clinvar/53374 ^@ NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) http://identifiers.org/clinvar/54129 ^@ NM_007294.3(BRCA1):c.1106A>G (p.Asp369Gly) http://identifiers.org/clinvar/54179 ^@ NM_007294.3(BRCA1):c.1261G>A (p.Glu421Lys) http://identifiers.org/clinvar/54229 ^@ NM_007294.3(BRCA1):c.1383delT (p.Phe461Leufs) http://identifiers.org/clinvar/54280 ^@ NM_007294.3(BRCA1):c.1513A>T (p.Lys505Ter) http://identifiers.org/clinvar/54330 ^@ NM_007294.3(BRCA1):c.1712T>C (p.Ile571Thr) http://identifiers.org/clinvar/54381 ^@ NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) http://identifiers.org/clinvar/54431 ^@ NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) http://identifiers.org/clinvar/54581 ^@ NM_007294.3(BRCA1):c.2482G>A (p.Gly828Ser) http://identifiers.org/clinvar/54631 ^@ NM_007294.3(BRCA1):c.2659dupG (p.Ala887Glyfs) http://identifiers.org/clinvar/54681 ^@ NM_007294.3(BRCA1):c.2796_2799delTGGT (p.Gly933Argfs) http://identifiers.org/clinvar/54731 ^@ NM_007294.3(BRCA1):c.2955delC (p.Ile986Serfs) http://identifiers.org/clinvar/54781 ^@ NM_007294.3(BRCA1):c.3152C>G (p.Thr1051Ser) http://identifiers.org/clinvar/54831 ^@ NM_007294.3(BRCA1):c.3305A>G (p.Asn1102Ser) http://identifiers.org/clinvar/54881 ^@ NM_007294.3(BRCA1):c.3428delCinsTA (p.Ser1143Leufs) http://identifiers.org/clinvar/54931 ^@ NM_007294.3(BRCA1):c.3600G>T (p.Gln1200His) http://identifiers.org/clinvar/54983 ^@ NM_007294.3(BRCA1):c.372C>A (p.Ile124=) http://identifiers.org/clinvar/55034 ^@ NM_007294.3(BRCA1):c.3876delT (p.Ala1293Leufs) http://identifiers.org/clinvar/55085 ^@ NM_007294.3(BRCA1):c.4046C>T (p.Thr1349Met) http://identifiers.org/clinvar/55136 ^@ NM_007294.3(BRCA1):c.4195_4196delAC (p.Thr1399Hisfs) http://identifiers.org/clinvar/55186 ^@ NM_007294.3(BRCA1):c.437_440delCCTT (p.Ser146Cysfs) http://identifiers.org/clinvar/55237 ^@ NM_007294.3(BRCA1):c.4609C>T (p.Gln1537Ter) http://identifiers.org/clinvar/55287 ^@ NM_007294.3(BRCA1):c.4787C>T (p.Ser1596Leu) http://identifiers.org/clinvar/55338 ^@ NM_007294.3(BRCA1):c.4981G>T (p.Glu1661Ter) http://identifiers.org/clinvar/55388 ^@ NM_007294.3(BRCA1):c.5084_5085delTT (p.Phe1695Cysfs) http://identifiers.org/clinvar/55438 ^@ NM_007294.3(BRCA1):c.5158A>G (p.Thr1720Ala) http://identifiers.org/clinvar/55488 ^@ NM_007294.3(BRCA1):c.5258G>C (p.Arg1753Thr) http://identifiers.org/clinvar/55879 ^@ NM_004656.3(BAP1):c.277A>G (p.Thr93Ala) http://identifiers.org/clinvar/55952 ^@ NM_000027.3(AGA):c.755G>A (p.Gly252Glu) http://identifiers.org/clinvar/56003 ^@ NM_000111.2(SLC26A3):c.525G>C (p.Arg175Ser) http://identifiers.org/clinvar/57025 ^@ GRCh38/hg38 8q24.3(chr8:144992787-145054634)x1 http://identifiers.org/clinvar/57080 ^@ GRCh38/hg38 15q11.2(chr15:23735121-24259372)x3 http://identifiers.org/clinvar/57134 ^@ GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1 http://identifiers.org/clinvar/57185 ^@ GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)x1 http://identifiers.org/clinvar/57238 ^@ GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 http://identifiers.org/clinvar/57291 ^@ GRCh38/hg38 5q22.2(chr5:112838409-112934061)x1 http://identifiers.org/clinvar/57344 ^@ GRCh38/hg38 9q34.3(chr9:138041609-138100328)x3 http://identifiers.org/clinvar/57396 ^@ GRCh38/hg38 7q21.11(chr7:83106737-83290446)x1 http://identifiers.org/clinvar/103262 ^@ NM_144687.3(NLRP12):c.290-76A>G http://identifiers.org/clinvar/103312 ^@ NM_176810.2(NLRP13):c.2619-7C>A http://identifiers.org/clinvar/103362 ^@ NM_178844.3(NLRC3):c.1928+186T>C http://identifiers.org/clinvar/111236 ^@ NM_005534.3(IFNGR2):c.207-636C>T http://identifiers.org/clinvar/120171 ^@ NM_000767.4(CYP2B6):c.785A>G (p.Lys262Arg) http://identifiers.org/clinvar/120248 ^@ NM_005188.3(CBL):c.1711G>A (p.Asp571Asn) http://identifiers.org/clinvar/120298 ^@ NM_000277.1(PAH):c.970-1G>A http://identifiers.org/clinvar/125524 ^@ NM_007294.3(BRCA1):c.81-150G>A http://identifiers.org/clinvar/125610 ^@ NM_007294.3(BRCA1):c.212+10T>G http://identifiers.org/clinvar/125678 ^@ NM_007294.3(BRCA1):c.4110_4111delTG (p.Gly1371Valfs) http://identifiers.org/clinvar/125742 ^@ U14680.1:n.5106-1A>G http://identifiers.org/clinvar/125817 ^@ NM_007294.3(BRCA1):c.5277+78G>A http://identifiers.org/clinvar/125880 ^@ NM_007294.3(BRCA1):c.547+14delG http://identifiers.org/clinvar/125945 ^@ NM_000059.3(BRCA2):c.1408dupG (p.Glu470Glyfs) http://identifiers.org/clinvar/126007 ^@ NM_000059.3(BRCA2):c.3362C>A (p.Ser1121Ter) http://identifiers.org/clinvar/126076 ^@ NM_000059.3(BRCA2):c.5743A>G (p.Thr1915Ala) http://identifiers.org/clinvar/126143 ^@ U43746.1:n.7829+18T>G http://identifiers.org/clinvar/126202 ^@ NM_000059.3(BRCA2):c.714_716dupAAG (p.Glu238_Ser239insArg) http://identifiers.org/clinvar/126261 ^@ NM_025114.3(CEP290):c.5227-43G>A http://identifiers.org/clinvar/242643 ^@ NM_000155.2(GALT):c.820+50_*789delinsGAATAGACCCCA http://identifiers.org/clinvar/127399 ^@ NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) http://identifiers.org/clinvar/127449 ^@ NM_000051.3(ATM):c.7778A>G (p.Gln2593Arg) http://identifiers.org/clinvar/159945 ^@ NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) http://identifiers.org/clinvar/160368 ^@ NM_000243.2(MEFV):c.2053G>A (p.Glu685Lys) http://identifiers.org/clinvar/161126 ^@ NM_152296.4(ATP1A3):c.979_981delCTG (p.Leu327del) http://identifiers.org/clinvar/162592 ^@ NM_007171.3(POMT1):c.1891+19delT http://identifiers.org/clinvar/166439 ^@ NM_206933.2(USH2A):c.12046G>A (p.Val4016Met) http://identifiers.org/clinvar/180095 ^@ NM_133378.4(TTN):c.84809T>A (p.Val28270Glu) http://identifiers.org/clinvar/163146 ^@ NM_001369.2(DNAH5):c.6061+10A>G http://identifiers.org/clinvar/162842 ^@ NM_181426.1(CCDC39):c.1359C>T (p.Ser453=) http://identifiers.org/clinvar/163695 ^@ NM_001199799.1(ILDR1):c.1433C>T (p.Ser478Phe) http://identifiers.org/clinvar/164644 ^@ NM_004999.3(MYO6):c.3246T>C (p.Tyr1082=) http://identifiers.org/clinvar/163096 ^@ NM_001277115.1(DNAH11):c.1916A>G (p.Gln639Arg) http://identifiers.org/clinvar/179995 ^@ NM_015404.3(WHRN):c.409G>C (p.Glu137Gln) http://identifiers.org/clinvar/163613 ^@ NM_032119.3(ADGRV1):c.13364G>A (p.Ser4455Asn) http://identifiers.org/clinvar/198432 ^@ NM_000642.2(AGL):c.894C>T (p.Leu298=) http://identifiers.org/clinvar/198482 ^@ NM_002437.4(MPV17):c.409-7C>T http://identifiers.org/clinvar/198745 ^@ NM_000552.4(VWF):c.954T>A (p.Asn318Lys) http://identifiers.org/clinvar/198797 ^@ NM_004385.4(VCAN):c.6723A>G (p.Arg2241=) http://identifiers.org/clinvar/198851 ^@ NM_012254.2(SLC27A5):c.1686G>A (p.Val562=) http://identifiers.org/clinvar/198904 ^@ NM_001037633.1(SIL1):c.849C>T (p.Leu283=) http://identifiers.org/clinvar/198957 ^@ NM_001080463.1(DYNC2H1):c.12177+1G>A http://identifiers.org/clinvar/199009 ^@ NM_000310.3(PPT1):c.904A>G (p.Ile302Val) http://identifiers.org/clinvar/199059 ^@ NM_001134363.2(RBM20):c.2514T>C (p.Ala838=) http://identifiers.org/clinvar/199113 ^@ NM_005765.2(ATP6AP2):c.1050T>C (p.Asp350=) http://identifiers.org/clinvar/199164 ^@ NM_022436.2(ABCG5):c.1284C>T (p.Gly428=) http://identifiers.org/clinvar/199220 ^@ NM_182914.2(SYNE2):c.16718G>A (p.Arg5573Gln) http://identifiers.org/clinvar/199655 ^@ NM_207111.3(RNF216):c.904C>T (p.Gln302Ter) http://identifiers.org/clinvar/200966 ^@ NM_170707.3(LMNA):c.1601C>T (p.Thr534Ile) http://identifiers.org/clinvar/199721 ^@ NM_000090.3(COL3A1):c.1294G>A (p.Gly432Ser) http://identifiers.org/clinvar/199885 ^@ NM_004415.3(DSP):c.4961T>C (p.Leu1654Pro) http://identifiers.org/clinvar/199941 ^@ NM_004415.3(DSP):c.8210T>C (p.Val2737Ala) http://identifiers.org/clinvar/200668 ^@ NM_000238.3(KCNH2):c.2764delC (p.Arg922Glyfs) http://identifiers.org/clinvar/200787 ^@ NM_000238.3(KCNH2):c.1285delG (p.Ala429Leufs) http://identifiers.org/clinvar/200551 ^@ NM_000238.3(KCNH2):c.136G>A (p.Asp46Asn) http://identifiers.org/clinvar/200850 ^@ NM_000218.2(KCNQ1):c.1522G>T (p.Glu508Ter) http://identifiers.org/clinvar/200908 ^@ NM_000218.2(KCNQ1):c.1763T>C (p.Ile588Thr) http://identifiers.org/clinvar/200110 ^@ NM_000138.4(FBN1):c.7253G>A (p.Cys2418Tyr) http://identifiers.org/clinvar/200169 ^@ NM_000138.4(FBN1):c.6406_6407dupGT (p.Cys2137Serfs) http://identifiers.org/clinvar/200056 ^@ NM_000138.4(FBN1):c.4888C>T (p.Gln1630Ter) http://identifiers.org/clinvar/200002 ^@ NM_000138.4(FBN1):c.2671C>T (p.Gln891Ter) http://identifiers.org/clinvar/201041 ^@ NM_001040113.1(MYH11):c.5819C>A (p.Pro1940Gln) http://identifiers.org/clinvar/199775 ^@ NM_024422.4(DSC2):c.2636A>G (p.Asp879Gly) http://identifiers.org/clinvar/199830 ^@ NM_001943.4(DSG2):c.2315T>G (p.Leu772Ter) http://identifiers.org/clinvar/201928 ^@ NM_144573.3(NEXN):c.1615C>T (p.Arg539Cys) http://identifiers.org/clinvar/202041 ^@ NM_001134363.2(RBM20):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/201871 ^@ NM_032578.3(MYPN):c.3122T>A (p.Ile1041Asn) http://identifiers.org/clinvar/202159 ^@ NM_014000.2(VCL):c.1403C>T (p.Thr468Met) http://identifiers.org/clinvar/201982 ^@ NM_004572.3(PKP2):c.1367A>G (p.Lys456Arg) http://identifiers.org/clinvar/201819 ^@ NM_002230.2(JUP):c.892G>A (p.Gly298Ser) http://identifiers.org/clinvar/202099 ^@ NM_000116.4(TAZ):c.230A>G (p.His77Arg) http://identifiers.org/clinvar/242591 ^@ NM_206933.2(USH2A):c.12100G>A (p.Glu4034Lys) http://identifiers.org/clinvar/202209 ^@ NM_002772.2(TMPRSS15):c.1428+2T>G http://identifiers.org/clinvar/203053 ^@ NM_001256850.1(TTN):c.95344A>G (p.Lys31782Glu) http://identifiers.org/clinvar/202282 ^@ NM_001256850.1(TTN):c.94943-10C>T http://identifiers.org/clinvar/202494 ^@ NM_001256850.1(TTN):c.90847delC (p.His30283Thrfs) http://identifiers.org/clinvar/203003 ^@ NM_001256850.1(TTN):c.89372C>T (p.Pro29791Leu) http://identifiers.org/clinvar/202953 ^@ NM_001256850.1(TTN):c.83903G>A (p.Arg27968Gln) http://identifiers.org/clinvar/202332 ^@ NM_001256850.1(TTN):c.78010C>T (p.Arg26004Cys) http://identifiers.org/clinvar/202903 ^@ NM_001256850.1(TTN):c.76163G>A (p.Arg25388Lys) http://identifiers.org/clinvar/202853 ^@ NM_001256850.1(TTN):c.69221C>T (p.Pro23074Leu) http://identifiers.org/clinvar/202803 ^@ NM_001256850.1(TTN):c.61784A>G (p.Asn20595Ser) http://identifiers.org/clinvar/233924 ^@ NM_005732.3(RAD50):c.1971C>G (p.Ala657=) http://identifiers.org/clinvar/230981 ^@ NM_005732.3(RAD50):c.2445G>A (p.Lys815=) http://identifiers.org/clinvar/233521 ^@ NM_000535.6(PMS2):c.1492_1502delAGCACTTCCGT (p.Ser498Glyfs) http://identifiers.org/clinvar/233421 ^@ NM_000535.6(PMS2):c.768T>C (p.Gly256=) http://identifiers.org/clinvar/233721 ^@ NM_004329.2(BMPR1A):c.869G>C (p.Gly290Ala) http://identifiers.org/clinvar/230831 ^@ NM_000051.3(ATM):c.1550T>G (p.Val517Gly) http://identifiers.org/clinvar/230581 ^@ NM_000051.3(ATM):c.1582A>G (p.Thr528Ala) http://identifiers.org/clinvar/233571 ^@ NM_000051.3(ATM):c.1779A>C (p.Thr593=) http://identifiers.org/clinvar/231281 ^@ NM_000051.3(ATM):c.3176C>T (p.Ala1059Val) http://identifiers.org/clinvar/233974 ^@ NM_000051.3(ATM):c.3817A>G (p.Asn1273Asp) http://identifiers.org/clinvar/234124 ^@ NM_000051.3(ATM):c.3850delA (p.Thr1284Glnfs) http://identifiers.org/clinvar/231231 ^@ NM_000051.3(ATM):c.4664delT (p.Leu1555Profs) http://identifiers.org/clinvar/233471 ^@ NM_000051.3(ATM):c.6927G>T (p.Leu2309=) http://identifiers.org/clinvar/233171 ^@ NM_000051.3(ATM):c.6975+4T>A http://identifiers.org/clinvar/231581 ^@ NM_000051.3(ATM):c.8660A>G (p.His2887Arg) http://identifiers.org/clinvar/233671 ^@ NM_005591.3(MRE11):c.1828A>G (p.Thr610Ala) http://identifiers.org/clinvar/233221 ^@ NM_005591.3(MRE11):c.1826dupA (p.Thr610Aspfs) http://identifiers.org/clinvar/230881 ^@ NM_005591.3(MRE11):c.1413G>A (p.Glu471=) http://identifiers.org/clinvar/231631 ^@ NM_000059.3(BRCA2):c.4292C>T (p.Ala1431Val) http://identifiers.org/clinvar/230631 ^@ NM_000059.3(BRCA2):c.8656C>A (p.Pro2886Thr) http://identifiers.org/clinvar/233823 ^@ NM_000059.3(BRCA2):c.9341_9343delTTA (p.Ile3114del) http://identifiers.org/clinvar/229742 ^@ NM_024675.3(PALB2):c.1378C>T (p.Gln460Ter) http://identifiers.org/clinvar/230781 ^@ NM_024675.3(PALB2):c.1251C>T (p.Ser417=) http://identifiers.org/clinvar/233773 ^@ NM_004360.4(CDH1):c.699C>G (p.His233Gln) http://identifiers.org/clinvar/231481 ^@ NM_004360.4(CDH1):c.878T>C (p.Val293Ala) http://identifiers.org/clinvar/233874 ^@ NM_004360.4(CDH1):c.1550T>G (p.Met517Arg) http://identifiers.org/clinvar/230531 ^@ NM_004360.4(CDH1):c.1696A>C (p.Ile566Leu) http://identifiers.org/clinvar/233321 ^@ NM_004360.4(CDH1):c.1977G>T (p.Glu659Asp) http://identifiers.org/clinvar/231081 ^@ NM_001042492.2(NF1):c.2326-3T>G http://identifiers.org/clinvar/230931 ^@ NM_001042492.2(NF1):c.2896G>A (p.Ala966Thr) http://identifiers.org/clinvar/231681 ^@ NM_002878.3(RAD51D):c.33C>T (p.Gly11=) http://identifiers.org/clinvar/234224 ^@ NM_007294.3(BRCA1):c.4423G>T (p.Asp1475Tyr) http://identifiers.org/clinvar/230481 ^@ NM_007294.3(BRCA1):c.3398T>C (p.Leu1133Ser) http://identifiers.org/clinvar/231131 ^@ NM_007294.3(BRCA1):c.3181A>G (p.Ile1061Val) http://identifiers.org/clinvar/230731 ^@ NM_007294.3(BRCA1):c.2224A>G (p.Asn742Asp) http://identifiers.org/clinvar/230681 ^@ NM_032043.2(BRIP1):c.2330G>A (p.Arg777His) http://identifiers.org/clinvar/231031 ^@ NM_032043.2(BRIP1):c.442A>C (p.Arg148=) http://identifiers.org/clinvar/231431 ^@ NM_032043.2(BRIP1):c.24T>A (p.Tyr8Ter) http://identifiers.org/clinvar/231331 ^@ NM_000546.5(TP53):c.766_770delACACTinsCAGGTCAGGACATCCA (p.Thr256Glnfs) http://identifiers.org/clinvar/231381 ^@ NM_000455.4(STK11):c.520C>T (p.His174Tyr) http://identifiers.org/clinvar/233621 ^@ NM_007194.3(CHEK2):c.1220C>T (p.Ala407Val) http://identifiers.org/clinvar/232721 ^@ NM_007194.3(CHEK2):c.246_260dupCCAAGAACCTGAGGA (p.Glu86_Glu87insAspGlnGluProGlu) http://identifiers.org/clinvar/231181 ^@ NM_007194.3(CHEK2):c.239C>A (p.Pro80His) http://identifiers.org/clinvar/235331 ^@ NM_001478.4(B4GALNT1):c.1547C>T (p.Ala516Val) http://identifiers.org/clinvar/235384 ^@ NM_004782.3(SNAP29):c.265G>A (p.Glu89Lys) http://identifiers.org/clinvar/235439 ^@ NM_014324.5(AMACR):c.554T>C (p.Val185Ala) http://identifiers.org/clinvar/235492 ^@ NC_012920.1:m.8565A>G http://identifiers.org/clinvar/235545 ^@ NM_004429.4(EFNB1):c.92_93insCCTGGAGCCCGTAT (p.Ser39Profs) http://identifiers.org/clinvar/235596 ^@ NM_000404.3(GLB1):c.75+3A>G http://identifiers.org/clinvar/235646 ^@ NM_000126.3(ETFA):c.442A>G (p.Ile148Val) http://identifiers.org/clinvar/235702 ^@ NM_006019.3(TCIRG1):c.1249G>A (p.Ala417Thr) http://identifiers.org/clinvar/235763 ^@ NM_025074.6(FRAS1):c.11227A>G (p.Ile3743Val) http://identifiers.org/clinvar/235836 ^@ NM_052867.2(NALCN):c.979G>A (p.Glu327Lys) http://identifiers.org/clinvar/235917 ^@ NM_001168272.1(ITPR1):c.6465+3A>T http://identifiers.org/clinvar/236120 ^@ NM_000350.2(ABCA4):c.4640delA (p.Lys1547Argfs) http://identifiers.org/clinvar/236070 ^@ NM_000350.2(ABCA4):c.86T>G (p.Leu29Arg) http://identifiers.org/clinvar/236170 ^@ NM_004621.5(TRPC6):c.1440A>G (p.Ala480=) http://identifiers.org/clinvar/242384 ^@ NM_016111.3(TELO2):c.2034+1G>A http://identifiers.org/clinvar/236258 ^@ NM_003491.3(NAA10):c.384T>A (p.Phe128Leu) http://identifiers.org/clinvar/236309 ^@ NC_000015.8:g.19359417_26208861dup6849445 http://identifiers.org/clinvar/236359 ^@ NC_000008.9:g.2774625_3023261dup248637 http://identifiers.org/clinvar/236409 ^@ NM_000310.3(PPT1):c.707T>A (p.Val236Glu) http://identifiers.org/clinvar/236460 ^@ NM_016247.3(IMPG2):c.68dupA (p.Asp23Glufs) http://identifiers.org/clinvar/236510 ^@ NM_001297.4(CNGB1):c.2681G>A (p.Arg894His) http://identifiers.org/clinvar/238856 ^@ NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter) http://identifiers.org/clinvar/238806 ^@ NM_001267550.2(TTN):c.57305T>C (p.Ile19102Thr) http://identifiers.org/clinvar/238756 ^@ NM_001267550.2(TTN):c.36855G>A (p.Pro12285=) http://identifiers.org/clinvar/238706 ^@ NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg) http://identifiers.org/clinvar/241960 ^@ NM_152383.4(DIS3L2):c.1430T>G (p.Leu477Arg) http://identifiers.org/clinvar/241760 ^@ NM_053025.3(MYLK):c.3843C>T (p.Ser1281=) http://identifiers.org/clinvar/238606 ^@ NM_001166110.1(PALLD):c.1175G>A (p.Arg392Gln) http://identifiers.org/clinvar/241860 ^@ NM_139076.2(FAM175A):c.826_828delGAG (p.Glu276del) http://identifiers.org/clinvar/236560 ^@ NM_000038.5(APC):c.1483A>G (p.Ile495Val) http://identifiers.org/clinvar/236610 ^@ NM_000038.5(APC):c.4963A>G (p.Thr1655Ala) http://identifiers.org/clinvar/236660 ^@ NM_000038.5(APC):c.8518G>A (p.Val2840Met) http://identifiers.org/clinvar/242210 ^@ NM_198253.2(TERT):c.-57A>C http://identifiers.org/clinvar/238956 ^@ NM_001369.2(DNAH5):c.11063A>G (p.Asp3688Gly) http://identifiers.org/clinvar/238656 ^@ NM_001206927.1(DNAH8):c.8259+6G>A http://identifiers.org/clinvar/241410 ^@ NM_021930.5(RINT1):c.532T>C (p.Tyr178His) http://identifiers.org/clinvar/238906 ^@ NM_001277115.1(DNAH11):c.3122G>A (p.Trp1041Ter) http://identifiers.org/clinvar/262759 ^@ NM_153717.2(EVC):c.*14G>A http://identifiers.org/clinvar/261809 ^@ NM_025074.6(FRAS1):c.6444C>T (p.Thr2148=) http://identifiers.org/clinvar/262059 ^@ NM_032446.2(MEGF10):c.1046G>A (p.Arg349His) http://identifiers.org/clinvar/255870 ^@ NM_000337.5(SGCD):c.3+19C>T http://identifiers.org/clinvar/261559 ^@ NM_022132.4(MCCC2):c.282-7G>A http://identifiers.org/clinvar/256070 ^@ NM_000426.3(LAMA2):c.4311+32C>G http://identifiers.org/clinvar/262159 ^@ NM_033071.3(SYNE1):c.12316-12G>A http://identifiers.org/clinvar/262009 ^@ NM_032122.4(DTNBP1):c.-18A>G http://identifiers.org/clinvar/262309 ^@ NM_080680.2(COL11A2):c.2484+22C>G http://identifiers.org/clinvar/262409 ^@ NM_138694.3(PKHD1):c.6332+22A>G http://identifiers.org/clinvar/260770 ^@ NM_016616.4(NME8):c.91+44G>A http://identifiers.org/clinvar/256220 ^@ NM_000466.2(PEX1):c.3439-14_3439-13delAA http://identifiers.org/clinvar/260370 ^@ NM_014251.2(SLC25A13):c.1194A>G (p.Leu398=) http://identifiers.org/clinvar/260170 ^@ NM_012082.3(ZFPM2):c.1208C>G (p.Ala403Gly) http://identifiers.org/clinvar/260270 ^@ NM_012472.5(LRRC6):c.1197G>A (p.Ser399=) http://identifiers.org/clinvar/256170 ^@ NM_000445.4(PLEC):c.1250+43T>A http://identifiers.org/clinvar/262659 ^@ NM_152564.4(VPS13B):c.2451T>C (p.His817=) http://identifiers.org/clinvar/254731 ^@ NM_000035.3(ALDOB):c.156T>G (p.Thr52=) http://identifiers.org/clinvar/262359 ^@ NM_133497.3(KCNV2):c.1386C>T (p.Asp462=) http://identifiers.org/clinvar/260120 ^@ NM_007126.3(VCP):c.1194+15_1194+17delATG http://identifiers.org/clinvar/256320 ^@ NM_000507.3(FBP1):c.426+7C>T http://identifiers.org/clinvar/255670 ^@ NM_000264.3(PTCH1):c.1686C>T (p.Ala562=) http://identifiers.org/clinvar/256270 ^@ NM_000494.3(COL17A1):c.2883C>A (p.Pro961=) http://identifiers.org/clinvar/262209 ^@ NM_033100.3(CDHR1):c.1515C>T (p.Gly505=) http://identifiers.org/clinvar/260720 ^@ NM_016341.3(PLCE1):c.4724G>C (p.Arg1575Pro) http://identifiers.org/clinvar/260670 ^@ NM_015631.5(TCTN3):c.737-16A>T http://identifiers.org/clinvar/254881 ^@ NM_000076.2(CDKN1C):c.567T>C (p.Ala189=) http://identifiers.org/clinvar/261709 ^@ NM_024426.4(WT1):c.1433-49T>C http://identifiers.org/clinvar/261759 ^@ NM_024741.2(ZNF408):c.366C>G (p.Ala122=) http://identifiers.org/clinvar/262809 ^@ NM_172364.4(CACNA2D4):c.1515A>G (p.Thr505=) http://identifiers.org/clinvar/256670 ^@ NM_000552.4(VWF):c.3486A>G (p.Pro1162=) http://identifiers.org/clinvar/262259 ^@ NM_052867.2(NALCN):c.3210C>T (p.Asn1070=) http://identifiers.org/clinvar/255820 ^@ NM_000321.2(RB1):c.1128-5delT http://identifiers.org/clinvar/261609 ^@ NM_022489.3(INF2):c.2571C>T (p.Ser857=) http://identifiers.org/clinvar/261959 ^@ NM_031427.3(DNAL1):c.392-47G>A http://identifiers.org/clinvar/256820 ^@ NM_000814.5(GABRB3):c.603C>T (p.Thr201=) http://identifiers.org/clinvar/255720 ^@ NM_000275.2(OCA2):c.1365-15C>T http://identifiers.org/clinvar/260320 ^@ NM_014080.4(DUOX2):c.2286G>A (p.Gln762=) http://identifiers.org/clinvar/335656 ^@ NM_001029883.2(C2orf71):c.1648G>A (p.Glu550Lys) http://identifiers.org/clinvar/335106 ^@ NM_004369.3(COL6A3):c.7649A>C (p.Gln2550Pro) http://identifiers.org/clinvar/335156 ^@ NM_004544.3(NDUFA10):c.*3204C>T http://identifiers.org/clinvar/335856 ^@ NM_014946.3(SPAST):c.*1231_*1233delCAT http://identifiers.org/clinvar/335206 ^@ NM_004544.3(NDUFA10):c.-92C>T http://identifiers.org/clinvar/335306 ^@ NM_152783.4(D2HGDH):c.-132C>T http://identifiers.org/clinvar/332915 ^@ NM_133378.4(TTN):c.18112G>A (p.Glu6038Lys) http://identifiers.org/clinvar/333265 ^@ NM_007315.3(STAT1):c.1872C>T (p.Gly624=) http://identifiers.org/clinvar/335456 ^@ NM_194248.2(OTOF):c.960G>A (p.Ser320=) http://identifiers.org/clinvar/333015 ^@ NM_201548.4(CERKL):c.17G>T (p.Arg6Leu) http://identifiers.org/clinvar/333065 ^@ NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) http://identifiers.org/clinvar/336256 ^@ NM_001430.4(EPAS1):c.1035-15T>C http://identifiers.org/clinvar/333215 ^@ NM_005259.2(MSTN):c.*1514C>G http://identifiers.org/clinvar/333665 ^@ NM_001204.6(BMPR2):c.*815C>T http://identifiers.org/clinvar/335706 ^@ NM_004304.4(ALK):c.1626G>C (p.Pro542=) http://identifiers.org/clinvar/333315 ^@ NM_002156.4(HSPD1):c.-66T>C http://identifiers.org/clinvar/333715 ^@ NM_001204.6(BMPR2):c.*5787T>G http://identifiers.org/clinvar/333415 ^@ NM_032977.3(CASP10):c.20A>G (p.His7Arg) http://identifiers.org/clinvar/333865 ^@ NM_014929.3(FASTKD2):c.*4201C>T http://identifiers.org/clinvar/333815 ^@ NM_014929.3(FASTKD2):c.*557A>G http://identifiers.org/clinvar/336413 ^@ NM_002354.2(EPCAM):c.*41T>G http://identifiers.org/clinvar/336513 ^@ NM_001135659.2(NRXN1):c.*2277G>A http://identifiers.org/clinvar/336563 ^@ NM_001135659.2(NRXN1):c.-282G>A http://identifiers.org/clinvar/336613 ^@ NM_001039348.2(EFEMP1):c.*687T>C http://identifiers.org/clinvar/337602 ^@ NM_020184.3(CNNM4):c.*924G>A http://identifiers.org/clinvar/334556 ^@ NM_181457.3(PAX3):c.*35C>T http://identifiers.org/clinvar/334606 ^@ NM_003590.4(CUL3):c.*2073A>G http://identifiers.org/clinvar/334856 ^@ NM_025243.3(SLC19A3):c.*1090G>A http://identifiers.org/clinvar/335056 ^@ NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile) http://identifiers.org/clinvar/335506 ^@ NM_000221.2(KHK):c.*159G>A http://identifiers.org/clinvar/335556 ^@ NM_144631.5(ZNF513):c.740G>A (p.Arg247Gln) http://identifiers.org/clinvar/335256 ^@ NM_004321.7(KIF1A):c.4586G>A (p.Arg1529Gln) http://identifiers.org/clinvar/335756 ^@ NM_000379.3(XDH):c.3930C>T (p.Cys1310=) http://identifiers.org/clinvar/335406 ^@ NM_000183.2(HADHB):c.712C>T (p.Arg238Trp) http://identifiers.org/clinvar/335906 ^@ NM_001011.3(RPS7):c.*31C>T http://identifiers.org/clinvar/335606 ^@ NM_001029883.2(C2orf71):c.*1296T>G http://identifiers.org/clinvar/335806 ^@ NM_000348.3(SRD5A2):c.*1133A>G http://identifiers.org/clinvar/357298 ^@ NM_003221.3(TFAP2B):c.*911delA http://identifiers.org/clinvar/350911 ^@ NM_001369.2(DNAH5):c.*802A>G http://identifiers.org/clinvar/350961 ^@ NM_017415.2(KLHL3):c.*1651C>T http://identifiers.org/clinvar/351261 ^@ NM_005219.4(DIAPH1):c.*1544A>G http://identifiers.org/clinvar/351311 ^@ NM_005219.4(DIAPH1):c.-82G>A http://identifiers.org/clinvar/351611 ^@ NM_024577.3(SH3TC2):c.*18476T>C http://identifiers.org/clinvar/351561 ^@ NM_054027.4(ANKH):c.258C>T (p.Ala86=) http://identifiers.org/clinvar/358937 ^@ NM_018718.2(CEP41):c.*333C>T http://identifiers.org/clinvar/359037 ^@ NM_020632.2(ATP6V0A4):c.-169C>T http://identifiers.org/clinvar/351661 ^@ NM_024577.3(SH3TC2):c.*14766T>A http://identifiers.org/clinvar/351911 ^@ NM_024577.3(SH3TC2):c.1830G>A (p.Lys610=) http://identifiers.org/clinvar/351711 ^@ NM_024577.3(SH3TC2):c.*10177T>A http://identifiers.org/clinvar/351761 ^@ NM_024577.3(SH3TC2):c.*8111A>C http://identifiers.org/clinvar/359237 ^@ NM_014141.5(CNTNAP2):c.*2777C>T http://identifiers.org/clinvar/352011 ^@ NM_000440.2(PDE6A):c.-114T>C http://identifiers.org/clinvar/351811 ^@ NM_024577.3(SH3TC2):c.*5305C>A http://identifiers.org/clinvar/351861 ^@ NM_024577.3(SH3TC2):c.*1982C>A http://identifiers.org/clinvar/359387 ^@ NM_022458.3(LMBR1):c.*2081G>A http://identifiers.org/clinvar/359637 ^@ NM_001277115.1(DNAH11):c.5594G>T (p.Arg1865Leu) http://identifiers.org/clinvar/356498 ^@ NM_182548.3(LHFPL5):c.*423_*424delTA http://identifiers.org/clinvar/356598 ^@ NM_005943.5(MOCS1):c.*2397G>T http://identifiers.org/clinvar/360087 ^@ NM_133468.4(BMPER):c.-230G>A http://identifiers.org/clinvar/356748 ^@ NM_000322.4(PRPH2):c.*1408G>C http://identifiers.org/clinvar/360187 ^@ NM_000168.5(GLI3):c.*1411G>A http://identifiers.org/clinvar/356898 ^@ NM_006502.2(POLH):c.232G>A (p.Ala78Thr) http://identifiers.org/clinvar/357048 ^@ NM_020745.3(AARS2):c.*366T>C http://identifiers.org/clinvar/357248 ^@ NM_000255.3(MUT):c.*200A>T http://identifiers.org/clinvar/357348 ^@ NM_003221.3(TFAP2B):c.*3995T>C http://identifiers.org/clinvar/357548 ^@ NM_001723.5(DST):c.7491G>A (p.Lys2497=) http://identifiers.org/clinvar/361026 ^@ NM_014251.2(SLC25A13):c.421G>A (p.Glu141Lys) http://identifiers.org/clinvar/361427 ^@ NM_178857.5(RP1L1):c.117C>G (p.Leu39=) http://identifiers.org/clinvar/361636 ^@ NM_014112.4(TRPS1):c.-157G>C http://identifiers.org/clinvar/361686 ^@ NM_002546.3(TNFRSF11B):c.*207C>G http://identifiers.org/clinvar/361786 ^@ NM_004519.3(KCNQ3):c.*5761C>T http://identifiers.org/clinvar/363825 ^@ NM_000318.2(PEX2):c.-335C>T http://identifiers.org/clinvar/363875 ^@ NM_019098.4(CNGB3):c.913G>A (p.Ala305Thr) http://identifiers.org/clinvar/364025 ^@ NM_001001557.3(GDF6):c.*321_*322delTA http://identifiers.org/clinvar/363925 ^@ NM_153704.5(TMEM67):c.2556+5G>C http://identifiers.org/clinvar/363975 ^@ NM_018444.3(PDP1):c.*1957G>T http://identifiers.org/clinvar/300228 ^@ NM_000417.2(IL2RA):c.*1154_*1158dupAATTA http://identifiers.org/clinvar/364375 ^@ NM_005502.3(ABCA1):c.*19G>T http://identifiers.org/clinvar/364475 ^@ NM_005502.3(ABCA1):c.-141C>T http://identifiers.org/clinvar/300378 ^@ NM_018344.5(SLC29A3):c.*403C>T http://identifiers.org/clinvar/300428 ^@ NM_022124.5(CDH23):c.4005C>G (p.Val1335=) http://identifiers.org/clinvar/307132 ^@ NM_021625.4(TRPV4):c.1211G>A (p.Arg404His) http://identifiers.org/clinvar/364675 ^@ NM_015404.3(WHRN):c.*187A>G http://identifiers.org/clinvar/300578 ^@ NM_004273.4(CHST3):c.*483G>A http://identifiers.org/clinvar/300678 ^@ NM_004273.4(CHST3):c.*4628A>C http://identifiers.org/clinvar/300728 ^@ NM_016065.3(MRPS16):c.-103G>T http://identifiers.org/clinvar/364575 ^@ NM_003640.4(IKBKAP):c.1439_1441delCTC (p.Pro480del) http://identifiers.org/clinvar/364825 ^@ NM_000177.4(GSN):c.1935G>A (p.Leu645=) http://identifiers.org/clinvar/364975 ^@ NM_002316.3(LMX1B):c.*3642G>T http://identifiers.org/clinvar/364725 ^@ NM_012210.3(TRIM32):c.*177C>T http://identifiers.org/clinvar/365025 ^@ NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu) http://identifiers.org/clinvar/364875 ^@ NM_002316.3(LMX1B):c.19C>G (p.Pro7Ala) http://identifiers.org/clinvar/365075 ^@ NM_003165.3(STXBP1):c.*1836A>G http://identifiers.org/clinvar/309021 ^@ NM_003482.3(KMT2D):c.12682C>G (p.Gln4228Glu) http://identifiers.org/clinvar/309221 ^@ NM_000217.2(KCNA1):c.*5139dupA http://identifiers.org/clinvar/365664 ^@ NM_000787.3(DBH):c.1516G>A (p.Ala506Thr) http://identifiers.org/clinvar/309421 ^@ NM_014191.3(SCN8A):c.*4223C>T http://identifiers.org/clinvar/365714 ^@ NM_000093.4(COL5A1):c.1989G>C (p.Arg663Ser) http://identifiers.org/clinvar/309571 ^@ NM_000424.3(KRT5):c.259T>G (p.Phe87Val) http://identifiers.org/clinvar/366165 ^@ NM_144966.5(FREM1):c.840G>A (p.Ala280=) http://identifiers.org/clinvar/309621 ^@ NM_000423.2(KRT2):c.339C>T (p.Phe113=) http://identifiers.org/clinvar/309721 ^@ NM_015665.5(AAAS):c.1557T>C (p.Thr519=) http://identifiers.org/clinvar/302217 ^@ NM_000019.3(ACAT1):c.*250C>T http://identifiers.org/clinvar/309871 ^@ NM_012064.3(MIP):c.*715G>A http://identifiers.org/clinvar/302367 ^@ NM_024740.2(ALG9):c.*4141G>C http://identifiers.org/clinvar/310071 ^@ NM_000552.4(VWF):c.3379+12C>T http://identifiers.org/clinvar/310171 ^@ NM_002076.3(GNS):c.*2656G>A http://identifiers.org/clinvar/366265 ^@ NM_002451.3(MTAP):c.*775dupA http://identifiers.org/clinvar/366315 ^@ NM_002451.3(MTAP):c.*3851C>G http://identifiers.org/clinvar/302717 ^@ NM_001164277.1(SLC37A4):c.-384G>A http://identifiers.org/clinvar/302767 ^@ NM_005188.3(CBL):c.-125C>T http://identifiers.org/clinvar/310965 ^@ NM_002312.3(LIG4):c.*166G>C http://identifiers.org/clinvar/314254 ^@ NM_000428.2(LTBP2):c.*824C>T http://identifiers.org/clinvar/340442 ^@ NM_006657.2(FTCD):c.285C>T (p.Pro95=) http://identifiers.org/clinvar/314304 ^@ NM_000428.2(LTBP2):c.1833G>A (p.Gly611=) http://identifiers.org/clinvar/314454 ^@ NM_003239.4(TGFB3):c.294G>A (p.Ser98=) http://identifiers.org/clinvar/340693 ^@ NM_014339.6(IL17RA):c.*3837C>G http://identifiers.org/clinvar/314554 ^@ NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp) http://identifiers.org/clinvar/322189 ^@ NM_016239.3(MYO15A):c.*497G>C http://identifiers.org/clinvar/314704 ^@ NM_000369.2(TSHR):c.*182G>T http://identifiers.org/clinvar/340893 ^@ NM_004782.3(SNAP29):c.*2872G>A http://identifiers.org/clinvar/322489 ^@ NM_178170.2(NEK8):c.*163G>T http://identifiers.org/clinvar/341143 ^@ NM_000268.3(NF2):c.*2365C>T http://identifiers.org/clinvar/341393 ^@ NM_000362.4(TIMP3):c.*2668T>C http://identifiers.org/clinvar/322839 ^@ NM_004937.2(CTNS):c.407T>G (p.Val136Gly) http://identifiers.org/clinvar/322939 ^@ NM_000458.3(HNF1B):c.*274T= http://identifiers.org/clinvar/315793 ^@ NM_002225.3(IVD):c.-315C>G http://identifiers.org/clinvar/367854 ^@ NM_001167.3(XIAP):c.*5756C>T http://identifiers.org/clinvar/368004 ^@ NM_000133.3(F9):c.1381A>C (p.Thr461Pro) http://identifiers.org/clinvar/323878 ^@ NM_000212.2(ITGB3):c.*439C>G http://identifiers.org/clinvar/368104 ^@ NM_001042351.2(G6PD):c.-111A>G http://identifiers.org/clinvar/316193 ^@ NM_014080.4(DUOX2):c.243G>A (p.Pro81=) http://identifiers.org/clinvar/324134 ^@ NM_053013.3(ENO3):c.-3+3C>T http://identifiers.org/clinvar/316243 ^@ NM_012388.3(BLOC1S6):c.*2295C>T http://identifiers.org/clinvar/314404 ^@ NM_017791.2(FLVCR2):c.-119_-118delCT http://identifiers.org/clinvar/316343 ^@ NM_000138.4(FBN1):c.*1007G>T http://identifiers.org/clinvar/324235 ^@ NM_000717.4(CA4):c.681G>A (p.Pro227=) http://identifiers.org/clinvar/324285 ^@ NM_018488.3(TBX4):c.*722C>A http://identifiers.org/clinvar/314654 ^@ NM_004863.3(SPTLC2):c.*542T>C http://identifiers.org/clinvar/324587 ^@ NM_014336.4(AIPL1):c.*1009A>G http://identifiers.org/clinvar/324687 ^@ NM_031220.3(PITPNM3):c.*2957G>A http://identifiers.org/clinvar/316943 ^@ NM_005902.3(SMAD3):c.*2573G>A http://identifiers.org/clinvar/317243 ^@ NM_000326.4(RLBP1):c.141+6G>A http://identifiers.org/clinvar/324987 ^@ NM_000018.3(ACADVL):c.481G>A (p.Ala161Thr) http://identifiers.org/clinvar/325037 ^@ NM_173477.4(USH1G):c.*1180_*1181delTG http://identifiers.org/clinvar/317544 ^@ NM_000875.4(IGF1R):c.*3020dupT http://identifiers.org/clinvar/315843 ^@ NM_144508.4(KNL1):c.165C>T (p.Asn55=) http://identifiers.org/clinvar/315893 ^@ NM_000070.2(CAPN3):c.618G>A (p.Glu206=) http://identifiers.org/clinvar/372544 ^@ NM_206933.2(USH2A):c.12691C>T (p.Gln4231Ter) http://identifiers.org/clinvar/373254 ^@ NM_001035.2(RYR2):c.4513C>G (p.Leu1505Val) http://identifiers.org/clinvar/372334 ^@ NM_000094.3(COL7A1):c.4568delC (p.Pro1523Hisfs) http://identifiers.org/clinvar/372798 ^@ NM_175629.2(DNMT3A):c.2711C>T (p.Pro904Leu) http://identifiers.org/clinvar/373004 ^@ NM_022455.4(NSD1):c.5129G>T (p.Cys1710Phe) http://identifiers.org/clinvar/373654 ^@ NM_000806.5(GABRA1):c.378A>G (p.Thr126=) http://identifiers.org/clinvar/372384 ^@ NM_003640.4(IKBKAP):c.1213C>T (p.Arg405Trp) http://identifiers.org/clinvar/372748 ^@ NM_014251.2(SLC25A13):c.955C>T (p.Arg319Ter) http://identifiers.org/clinvar/373104 ^@ NM_006624.5(ZMYND11):c.464_467delAACA (p.Lys155Argfs) http://identifiers.org/clinvar/372954 ^@ NM_019098.4(CNGB3):c.1098_1101dupTAAT (p.Ala368Terfs) http://identifiers.org/clinvar/372491 ^@ NM_020975.4(RET):c.2607+5G>A http://identifiers.org/clinvar/372851 ^@ NM_005188.3(CBL):c.1850G>T (p.Arg617Leu) http://identifiers.org/clinvar/373704 ^@ NM_000257.3(MYH7):c.2092G>A (p.Val698Met) http://identifiers.org/clinvar/373554 ^@ NM_004667.5(HERC2):c.983G>A (p.Arg328His) http://identifiers.org/clinvar/372698 ^@ NM_005682.6(ADGRG1):c.843_844delCGinsGC (p.Ser281_Gly282delinsArgArg) http://identifiers.org/clinvar/373404 ^@ NM_017534.5(MYH2):c.1147+1G>T http://identifiers.org/clinvar/372435 ^@ NM_000271.4(NPC1):c.3425T>C (p.Met1142Thr) http://identifiers.org/clinvar/373354 ^@ NM_001127464.2(ZNF469):c.11360C>T (p.Thr3787Met) http://identifiers.org/clinvar/373504 ^@ NM_000833.4(GRIN2A):c.-215G>C http://identifiers.org/clinvar/372902 ^@ NM_176787.4(PIGN):c.1172+5G>C http://identifiers.org/clinvar/373154 ^@ NM_001130823.2(DNMT1):c.2602G>A (p.Glu868Lys) http://identifiers.org/clinvar/373604 ^@ NM_006767.3(LZTR1):c.1750G>A (p.Glu584Lys) http://identifiers.org/clinvar/373054 ^@ NM_006892.3(DNMT3B):c.562dupT (p.Tyr188Leufs) http://identifiers.org/clinvar/373304 ^@ NM_182688.2(UBE2G2):c.246G>A (p.Trp82Ter) http://identifiers.org/clinvar/373454 ^@ NM_182699.3(DDX53):c.812G>A (p.Gly271Glu) http://identifiers.org/clinvar/373204 ^@ NM_014009.3(FOXP3):c.1108A>G (p.Met370Val) http://identifiers.org/clinvar/373854 ^@ NG_005905.2:g.154259_156851del2593insTTTTTTTTTTTT http://identifiers.org/clinvar/373957 ^@ NM_015100.3(POGZ):c.402_409dupTGCCAATC (p.His137Leufs) http://identifiers.org/clinvar/373907 ^@ NM_003990.4(PAX2):c.213-1_225delGGTACTACGAGACC http://identifiers.org/clinvar/374107 ^@ NM_000244.3(MEN1):c.669+1delG http://identifiers.org/clinvar/374057 ^@ NM_153026.2(PRICKLE1):c.2359C>T (p.Arg787Trp) http://identifiers.org/clinvar/374007 ^@ NM_001098.2(ACO2):c.1395G>C (p.Lys465Asn) http://identifiers.org/clinvar/374965 ^@ NM_053025.3(MYLK):c.119G>A (p.Arg40Gln) http://identifiers.org/clinvar/375235 ^@ NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del http://identifiers.org/clinvar/375296 ^@ NM_020964.2(EPG5):c.4665delA (p.Glu1555Aspfs) http://identifiers.org/clinvar/375351 ^@ NM_000520.5(HEXA):c.459+4A>C http://identifiers.org/clinvar/375402 ^@ NM_203290.3(POLR1C):c.88C>T (p.Pro30Ser) http://identifiers.org/clinvar/375462 ^@ NM_006306.3(SMC1A):c.3373A>G (p.Met1125Val) http://identifiers.org/clinvar/375525 ^@ NM_004992.3(MECP2):c.915G>T (p.Lys305Asn) http://identifiers.org/clinvar/375584 ^@ NM_004187.3(KDM5C):c.2622+2dupT http://identifiers.org/clinvar/375642 ^@ NM_001198903.1(YY1AP1):c.664C>T (p.Gln222Ter) http://identifiers.org/clinvar/375787 ^@ NM_000527.4(LDLR):c.629T>C (p.Ile210Thr) http://identifiers.org/clinvar/375837 ^@ NM_000527.4(LDLR):c.2295_2302delGACAATGT (p.Thr766Serfs) http://identifiers.org/clinvar/375890 ^@ NM_001282386.1(IDH1):c.395G>C (p.Arg132Pro) http://identifiers.org/clinvar/385105 ^@ NM_001135659.2(NRXN1):c.583C>T (p.Leu195=) http://identifiers.org/clinvar/389933 ^@ NM_000179.2(MSH6):c.2334T>C (p.Leu778=) http://identifiers.org/clinvar/382212 ^@ NM_000179.2(MSH6):c.3646+19C>T http://identifiers.org/clinvar/378249 ^@ NM_002491.2(NDUFB3):c.-3+266T>C http://identifiers.org/clinvar/389583 ^@ NM_053025.3(MYLK):c.1785C>T (p.Ser595=) http://identifiers.org/clinvar/385255 ^@ NM_000249.3(MLH1):c.1896+18A>T http://identifiers.org/clinvar/378099 ^@ NM_133259.3(LRPPRC):c.3148+14G>A http://identifiers.org/clinvar/382111 ^@ NM_018297.3(NGLY1):c.-43G>C http://identifiers.org/clinvar/392222 ^@ NM_003242.5(TGFBR2):c.1121C>T (p.Pro374Leu) http://identifiers.org/clinvar/382161 ^@ NM_000249.3(MLH1):c.1667+17T>G http://identifiers.org/clinvar/378299 ^@ NM_001135659.2(NRXN1):c.3485-109897G>C http://identifiers.org/clinvar/388044 ^@ NM_005051.2(QARS):c.1542A>G (p.Pro514=) http://identifiers.org/clinvar/378504 ^@ NM_005506.3(SCARB2):c.567T>C (p.His189=) http://identifiers.org/clinvar/381861 ^@ NM_006005.3(WFS1):c.1350T>C (p.His450=) http://identifiers.org/clinvar/393122 ^@ NM_000142.4(FGFR3):c.389C>T (p.Ser130Phe) http://identifiers.org/clinvar/378349 ^@ NM_014476.5(PDLIM3):c.399-18G>A http://identifiers.org/clinvar/385005 ^@ NM_013391.3(DMGDH):c.78G>T (p.Pro26=) http://identifiers.org/clinvar/390633 ^@ NM_003060.3(SLC22A5):c.852C>T (p.Leu284=) http://identifiers.org/clinvar/382412 ^@ NM_182916.2(TRNT1):c.803-6C>T http://identifiers.org/clinvar/389383 ^@ NM_007255.2(B4GALT7):c.814G>A (p.Ala272Thr) http://identifiers.org/clinvar/389833 ^@ NM_198056.2(SCN5A):c.4437+17C>T http://identifiers.org/clinvar/387544 ^@ NM_005670.3(EPM2A):c.301+4T>C http://identifiers.org/clinvar/383453 ^@ NM_018100.3(EFHC1):c.943A>T (p.Ile315Phe) http://identifiers.org/clinvar/378907 ^@ NM_004415.3(DSP):c.1155G>A (p.Ala385=) http://identifiers.org/clinvar/381460 ^@ NM_001167734.1(VARS2):c.1604C>T (p.Ser535Phe) http://identifiers.org/clinvar/392572 ^@ NM_023110.2(FGFR1):c.2073G>T (p.Trp691Cys) http://identifiers.org/clinvar/387594 ^@ NM_000501.3(ELN):c.1358-336C>T http://identifiers.org/clinvar/387694 ^@ NM_005431.1(XRCC2):c.-14G>A http://identifiers.org/clinvar/386355 ^@ NM_002047.3(GARS):c.1614-4G>A http://identifiers.org/clinvar/392172 ^@ NM_006096.3(NDRG1):c.-8G>A http://identifiers.org/clinvar/377547 ^@ NM_007255.2(B4GALT7):c.777T>C (p.His259=) http://identifiers.org/clinvar/392972 ^@ NM_000368.4(TSC1):c.2700G>A (p.Gln900=) http://identifiers.org/clinvar/390083 ^@ NM_006904.6(PRKDC):c.11967G>A (p.Arg3989=) http://identifiers.org/clinvar/392322 ^@ NM_021167.4(GATAD1):c.-3A>G http://identifiers.org/clinvar/389783 ^@ NM_020822.2(KCNT1):c.435-18C>T http://identifiers.org/clinvar/393022 ^@ NM_000445.4(PLEC):c.8768A>G (p.Tyr2923Cys) http://identifiers.org/clinvar/392672 ^@ NM_001130438.2(SPTAN1):c.1949C>T (p.Ala650Val) http://identifiers.org/clinvar/392022 ^@ NM_001130438.2(SPTAN1):c.2205T>C (p.Asp735=) http://identifiers.org/clinvar/133047 ^@ NM_000540.2(RYR1):c.13254C>A (p.Gly4418=) http://identifiers.org/clinvar/133540 ^@ NM_015071.5(ARHGAP26):c.1107T>C (p.Pro369=) http://identifiers.org/clinvar/134537 ^@ NM_002185.3(IL7R):c.952G>A (p.Asp318Asn) http://identifiers.org/clinvar/134587 ^@ NM_004187.3(KDM5C):c.2507A>G (p.Gln836Arg) http://identifiers.org/clinvar/134638 ^@ NM_005120.2(MED12):c.568A>G (p.Ile190Val) http://identifiers.org/clinvar/134689 ^@ NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) http://identifiers.org/clinvar/134740 ^@ NM_170606.2(KMT2C):c.1577G>C (p.Arg526Pro) http://identifiers.org/clinvar/134790 ^@ NM_170606.2(KMT2C):c.10894C>T (p.Pro3632Ser) http://identifiers.org/clinvar/134841 ^@ NM_000251.2(MSH2):c.208G>A (p.Ala70Thr) http://identifiers.org/clinvar/134894 ^@ NM_000268.3(NF2):c.1451T>C (p.Met484Thr) http://identifiers.org/clinvar/134944 ^@ NM_017617.4(NOTCH1):c.368C>T (p.Thr123Met) http://identifiers.org/clinvar/134994 ^@ NM_024675.3(PALB2):c.2006delA (p.Glu669Glyfs) http://identifiers.org/clinvar/135044 ^@ NM_000534.4(PMS1):c.486dupA (p.Cys165Metfs) http://identifiers.org/clinvar/135095 ^@ NM_000264.3(PTCH1):c.2222C>T (p.Ala741Val) http://identifiers.org/clinvar/135146 ^@ NM_004260.3(RECQL4):c.3058G>A (p.Val1020Met) http://identifiers.org/clinvar/135227 ^@ NM_014159.6(SETD2):c.2283G>A (p.Met761Ile) http://identifiers.org/clinvar/135278 ^@ NM_000455.4(STK11):c.1072G>A (p.Asp358Asn) http://identifiers.org/clinvar/135328 ^@ NM_017628.4(TET2):c.3479G>A (p.Gly1160Glu) http://identifiers.org/clinvar/135378 ^@ NM_000548.4(TSC2):c.595G>C (p.Val199Leu) http://identifiers.org/clinvar/135429 ^@ NM_000553.4(WRN):c.2986G>A (p.Asp996Asn) http://identifiers.org/clinvar/135479 ^@ NM_004628.4(XPC):c.718C>T (p.Arg240Cys) http://identifiers.org/clinvar/135529 ^@ NM_000400.3(ERCC2):c.1119-102G>T http://identifiers.org/clinvar/135593 ^@ NM_002136.3(HNRNPA1):c.793A>G (p.Asn265Asp) http://identifiers.org/clinvar/135655 ^@ NM_000079.3(CHRNA1):c.737C>T (p.Ser246Phe) http://identifiers.org/clinvar/135715 ^@ NM_000038.5(APC):c.6750C>T (p.Gly2250=) http://identifiers.org/clinvar/135766 ^@ NM_000051.3(ATM):c.6293T>C (p.Leu2098Pro) http://identifiers.org/clinvar/135824 ^@ NM_000075.3(CDK4):c.523-4T>A http://identifiers.org/clinvar/135874 ^@ NM_000264.3(PTCH1):c.2004C>T (p.Tyr668=) http://identifiers.org/clinvar/135924 ^@ NM_000455.4(STK11):c.598-8C>T http://identifiers.org/clinvar/135975 ^@ NM_001127500.2(MET):c.689C>T (p.Thr230Met) http://identifiers.org/clinvar/136026 ^@ NM_002354.2(EPCAM):c.574A>T (p.Thr192Ser) http://identifiers.org/clinvar/136077 ^@ NM_005359.5(SMAD4):c.671A>T (p.Gln224Leu) http://identifiers.org/clinvar/185979 ^@ NM_001042492.2(NF1):c.7851G>A (p.Ala2617=) http://identifiers.org/clinvar/185929 ^@ NM_007294.3(BRCA1):c.3807C>T (p.Asp1269=) http://identifiers.org/clinvar/183839 ^@ NM_007294.3(BRCA1):c.2775C>T (p.Ile925=) http://identifiers.org/clinvar/185679 ^@ NM_000546.5(TP53):c.1137C>T (p.Arg379=) http://identifiers.org/clinvar/184979 ^@ NM_000546.5(TP53):c.578A>G (p.His193Arg) http://identifiers.org/clinvar/185729 ^@ NM_000546.5(TP53):c.427G>T (p.Val143Leu) http://identifiers.org/clinvar/184929 ^@ NM_005359.5(SMAD4):c.1393G>A (p.Val465Met) http://identifiers.org/clinvar/187774 ^@ NM_052867.2(NALCN):c.1526T>C (p.Leu509Ser) http://identifiers.org/clinvar/187846 ^@ NM_002858.3(ABCD3):c.1903-573_*1108del http://identifiers.org/clinvar/187903 ^@ NM_005957.4(MTHFR):c.1797_1798delTGinsGT (p.Tyr599Ter) http://identifiers.org/clinvar/187953 ^@ NM_004409.4(DMPK):c.*224_*226[281] http://identifiers.org/clinvar/188003 ^@ NM_004409.4(DMPK):c.*224_*226[542] http://identifiers.org/clinvar/188053 ^@ TBX6, HAPLOTYPE, T-C-A (rs2289292, rs3809624, rs3809627) http://identifiers.org/clinvar/188155 ^@ NM_000251.2(MSH2):c.1922G>A (p.Cys641Tyr) http://identifiers.org/clinvar/188365 ^@ NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) http://identifiers.org/clinvar/188311 ^@ NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) http://identifiers.org/clinvar/188259 ^@ NM_002485.4(NBN):c.2165G>A (p.Trp722Ter) http://identifiers.org/clinvar/188104 ^@ NM_000059.3(BRCA2):c.7342A>C (p.Lys2448Gln) http://identifiers.org/clinvar/188206 ^@ NM_000546.5(TP53):c.703A>T (p.Asn235Tyr) http://identifiers.org/clinvar/188473 ^@ NM_004415.3(DSP):c.7125G>A (p.Gly2375=) http://identifiers.org/clinvar/188573 ^@ NM_000256.3(MYBPC3):c.2860G>A (p.Ala954Thr) http://identifiers.org/clinvar/188523 ^@ NM_000256.3(MYBPC3):c.292+41G>C http://identifiers.org/clinvar/188423 ^@ NM_000059.3(BRCA2):c.476-19C>T http://identifiers.org/clinvar/188623 ^@ NM_000257.3(MYH7):c.3270C>T (p.Leu1090=) http://identifiers.org/clinvar/188673 ^@ NM_000363.4(TNNI3):c.373-60G>A http://identifiers.org/clinvar/188823 ^@ NM_014625.3(NPHS2):c.855_856delAA (p.Arg286Thrfs) http://identifiers.org/clinvar/188974 ^@ NM_000035.3(ALDOB):c.113-1_115delGGTA http://identifiers.org/clinvar/188723 ^@ NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) http://identifiers.org/clinvar/188874 ^@ NM_000152.4(GAA):c.1411_1414delGAGA (p.Glu471Profs) http://identifiers.org/clinvar/189025 ^@ NM_000152.4(GAA):c.1548G>A (p.Trp516Ter) http://identifiers.org/clinvar/188773 ^@ NM_000152.4(GAA):c.2014C>T (p.Arg672Trp) http://identifiers.org/clinvar/188924 ^@ NM_000152.4(GAA):c.2646+2T>A http://identifiers.org/clinvar/189754 ^@ NM_004992.3(MECP2):c.1161_1400del240 (p.Pro388_Pro467del) http://identifiers.org/clinvar/189988 ^@ NM_001165963.1(SCN1A):c.4993_4996dupATGT (p.Ser1666Tyrfs) http://identifiers.org/clinvar/189938 ^@ NM_001165963.1(SCN1A):c.2589+3A>T http://identifiers.org/clinvar/189888 ^@ NM_001165963.1(SCN1A):c.1136T>A (p.Met379Lys) http://identifiers.org/clinvar/190104 ^@ NM_002500.4(NEUROD1):c.724G>A (p.Val242Ile) http://identifiers.org/clinvar/190173 ^@ NM_000124.3(ERCC6):c.4186A>G (p.Arg1396Gly) http://identifiers.org/clinvar/190224 ^@ NM_025243.3(SLC19A3):c.74dupT (p.Ser26Leufs) http://identifiers.org/clinvar/190303 ^@ NM_019056.6(NDUFB11):c.402delG (p.Arg134Serfs) http://identifiers.org/clinvar/190357 ^@ NM_002055.4(GFAP):c.1085A>G (p.Glu362Gly) http://identifiers.org/clinvar/228740 ^@ NM_000601.5(HGF):c.1540A>G (p.Arg514Gly) http://identifiers.org/clinvar/229190 ^@ NM_001134363.2(RBM20):c.2161G>T (p.Ala721Ser) http://identifiers.org/clinvar/229040 ^@ NM_032578.3(MYPN):c.80G>C (p.Arg27Pro) http://identifiers.org/clinvar/228490 ^@ NM_022124.5(CDH23):c.3299C>T (p.Pro1100Leu) http://identifiers.org/clinvar/229290 ^@ NM_005422.2(TECTA):c.1327C>T (p.His443Tyr) http://identifiers.org/clinvar/227990 ^@ NM_005422.2(TECTA):c.2184C>T (p.Ser728=) http://identifiers.org/clinvar/229090 ^@ NM_001277269.1(OTOG):c.4165C>T (p.Arg1389Cys) http://identifiers.org/clinvar/226897 ^@ NM_001277269.1(OTOG):c.5495C>G (p.Ala1832Gly) http://identifiers.org/clinvar/228840 ^@ NM_001145308.4(LRTOMT):c.196C>G (p.Leu66Val) http://identifiers.org/clinvar/226947 ^@ NM_173591.3(OTOGL):c.4186T>C (p.Leu1396=) http://identifiers.org/clinvar/228890 ^@ NM_002471.3(MYH6):c.3428G>A (p.Arg1143Gln) http://identifiers.org/clinvar/226797 ^@ NM_003803.3(MYOM1):c.1112-11T>C http://identifiers.org/clinvar/226747 ^@ NM_001145809.1(MYH14):c.5678+12C>T http://identifiers.org/clinvar/228940 ^@ NM_033118.3(MYLK2):c.1741C>T (p.Arg581Cys) http://identifiers.org/clinvar/228040 ^@ NM_001039141.2(TRIOBP):c.6556G>A (p.Gly2186Ser) http://identifiers.org/clinvar/228590 ^@ NM_004006.2(DMD):c.640G>A (p.Asp214Asn) http://identifiers.org/clinvar/228540 ^@ NM_001885.2(CRYAB):c.353T>C (p.Phe118Ser) http://identifiers.org/clinvar/234558 ^@ NM_000179.2(MSH6):c.3703C>G (p.Leu1235Val) http://identifiers.org/clinvar/234396 ^@ NM_000314.6(PTEN):c.-1207G>C http://identifiers.org/clinvar/234456 ^@ NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) http://identifiers.org/clinvar/234284 ^@ NM_004360.4(CDH1):c.2374A>G (p.Met792Val) http://identifiers.org/clinvar/234507 ^@ NM_032043.2(BRIP1):c.1771T>A (p.Phe591Ile) http://identifiers.org/clinvar/234336 ^@ NM_014646.2(LPIN2):c.1492T>C (p.Phe498Leu) http://identifiers.org/clinvar/234074 ^@ NM_001128425.1(MUTYH):c.36+3A>T http://identifiers.org/clinvar/231531 ^@ NM_000465.3(BARD1):c.2097G>T (p.Gly699=) http://identifiers.org/clinvar/233371 ^@ NM_000465.3(BARD1):c.1714C>T (p.Leu572Phe) http://identifiers.org/clinvar/234174 ^@ NM_000251.2(MSH2):c.1954C>A (p.Pro652Thr) http://identifiers.org/clinvar/233271 ^@ NM_000179.2(MSH6):c.235T>C (p.Ser79Pro) http://identifiers.org/clinvar/234024 ^@ NM_000038.5(APC):c.1234C>T (p.Gln412Ter) http://identifiers.org/clinvar/264256 ^@ NM_001456.3(FLNA):c.7580T>C (p.Val2527Ala) http://identifiers.org/clinvar/264793 ^@ NM_007294.3(BRCA1):c.4358-1132A>T http://identifiers.org/clinvar/265932 ^@ NM_174936.3(PCSK9):c.705C>T (p.Ser235=) http://identifiers.org/clinvar/265882 ^@ NM_000384.2(APOB):c.1580C>T (p.Ala527Val) http://identifiers.org/clinvar/265987 ^@ NM_000518.4(HBB):c.-25T>C http://identifiers.org/clinvar/266038 ^@ NM_004006.2(DMD):c.8459G>A (p.Trp2820Ter) http://identifiers.org/clinvar/266114 ^@ NM_005529.6(HSPG2):c.4740+5G>A http://identifiers.org/clinvar/266764 ^@ NM_000059.3(BRCA2):c.368_372delAAATG (p.Lys123Argfs) http://identifiers.org/clinvar/267164 ^@ NM_000059.3(BRCA2):c.949delA (p.Thr317Glnfs) http://identifiers.org/clinvar/266614 ^@ NM_000059.3(BRCA2):c.1189_1190insTTAT (p.Gln397Leufs) http://identifiers.org/clinvar/266664 ^@ NM_000059.3(BRCA2):c.1845_1846delCT (p.Asn615Lysfs) http://identifiers.org/clinvar/266714 ^@ NM_000059.3(BRCA2):c.2703delT (p.Ala902Leufs) http://identifiers.org/clinvar/266814 ^@ NM_000059.3(BRCA2):c.4458delT (p.Lys1487Asnfs) http://identifiers.org/clinvar/266864 ^@ NM_000059.3(BRCA2):c.5218_5234del17 (p.Leu1740Valfs) http://identifiers.org/clinvar/266914 ^@ NM_000059.3(BRCA2):c.6012_6016delAGATA (p.Asp2005Tyrfs) http://identifiers.org/clinvar/266964 ^@ NM_000059.3(BRCA2):c.6575_6588delTGGAAATTGGTAAA (p.Met2192Asnfs) http://identifiers.org/clinvar/267014 ^@ NM_000059.3(BRCA2):c.7495C>T (p.Gln2499Ter) http://identifiers.org/clinvar/267064 ^@ NM_000059.3(BRCA2):c.8283_8284dupTC (p.Pro2762Leufs) http://identifiers.org/clinvar/267114 ^@ NM_000059.3(BRCA2):c.8910G>A (p.Trp2970Ter) http://identifiers.org/clinvar/266564 ^@ NM_007294.3(BRCA1):c.5556_5560delCTACC (p.Tyr1853Aspfs) http://identifiers.org/clinvar/266464 ^@ NM_007294.3(BRCA1):c.4270C>T (p.Gln1424Ter) http://identifiers.org/clinvar/266414 ^@ NM_007294.3(BRCA1):c.3885delG (p.Leu1295Phefs) http://identifiers.org/clinvar/266364 ^@ NM_007294.3(BRCA1):c.3388delT (p.Ser1130Glnfs) http://identifiers.org/clinvar/266314 ^@ NM_007294.3(BRCA1):c.2878_2879delGG (p.Gly960Glnfs) http://identifiers.org/clinvar/266214 ^@ NM_007294.3(BRCA1):c.2080dupA (p.Ser694Lysfs) http://identifiers.org/clinvar/266164 ^@ NM_007294.3(BRCA1):c.1390dupA (p.Thr464Asnfs) http://identifiers.org/clinvar/266514 ^@ NM_007294.3(BRCA1):c.502A>T (p.Lys168Ter) http://identifiers.org/clinvar/266264 ^@ NM_007294.3(BRCA1):c.246delT (p.Val83Leufs) http://identifiers.org/clinvar/268169 ^@ NM_005993.4(TBCD):c.1160T>G (p.Met387Arg) http://identifiers.org/clinvar/279579 ^@ NM_001080463.1(DYNC2H1):c.12387+8A>G http://identifiers.org/clinvar/290893 ^@ NM_001807.4(CEL):c.2181delT (p.Val728Cysfs) http://identifiers.org/clinvar/290943 ^@ NM_001360.2(DHCR7):c.84G>T (p.Gln28His) http://identifiers.org/clinvar/290993 ^@ NM_006922.3(SCN3A):c.1608C>T (p.Ser536=) http://identifiers.org/clinvar/291043 ^@ NM_000396.3(CTSK):c.90G>A (p.Lys30=) http://identifiers.org/clinvar/291093 ^@ NM_005236.2(ERCC4):c.8C>T (p.Ser3Leu) http://identifiers.org/clinvar/291143 ^@ NM_015346.3(ZFYVE26):c.2300G>A (p.Arg767His) http://identifiers.org/clinvar/291194 ^@ NM_153240.4(NPHP3):c.3896G>A (p.Gly1299Asp) http://identifiers.org/clinvar/291244 ^@ NM_024408.3(NOTCH2):c.6837T>A (p.His2279Gln) http://identifiers.org/clinvar/291305 ^@ NM_000257.3(MYH7):c.5171_5173delTCA (p.Ile1724del) http://identifiers.org/clinvar/291409 ^@ NM_001918.3(DBT):c.*4507T>C http://identifiers.org/clinvar/291459 ^@ NM_015074.3(KIF1B):c.-136C>T http://identifiers.org/clinvar/291509 ^@ NM_001854.3(COL11A1):c.3817-13delT http://identifiers.org/clinvar/291559 ^@ NM_001854.3(COL11A1):c.-220T>C http://identifiers.org/clinvar/291651 ^@ NM_015074.3(KIF1B):c.*3857G>A http://identifiers.org/clinvar/291801 ^@ NM_006610.3(MASP2):c.470A>G (p.His157Arg) http://identifiers.org/clinvar/291701 ^@ NM_013296.4(GPSM2):c.683G>A (p.Arg228His) http://identifiers.org/clinvar/291751 ^@ NM_007375.3(TARDBP):c.*1081C>T http://identifiers.org/clinvar/291901 ^@ NM_013319.2(UBIAD1):c.*1535A>T http://identifiers.org/clinvar/292151 ^@ NM_005957.4(MTHFR):c.*4791G>A http://identifiers.org/clinvar/291851 ^@ NM_003051.3(SLC16A1):c.1452G>A (p.Pro484=) http://identifiers.org/clinvar/291951 ^@ NM_002524.4(NRAS):c.*2714G>T http://identifiers.org/clinvar/292051 ^@ NM_138959.2(VANGL1):c.*2336A>G http://identifiers.org/clinvar/292001 ^@ NM_138959.2(VANGL1):c.-115G>C http://identifiers.org/clinvar/292101 ^@ NM_138959.2(VANGL1):c.*5995A>T http://identifiers.org/clinvar/292201 ^@ NM_005957.4(MTHFR):c.*1993C>T http://identifiers.org/clinvar/292251 ^@ NM_000302.3(PLOD1):c.-61C>T http://identifiers.org/clinvar/292301 ^@ NM_006623.3(PHGDH):c.-79T>C http://identifiers.org/clinvar/294950 ^@ NM_000537.3(REN):c.1076A>T (p.Lys359Ile) http://identifiers.org/clinvar/336306 ^@ NM_001430.4(EPAS1):c.*1134T>C http://identifiers.org/clinvar/336763 ^@ NM_015910.5(WDPCP):c.1706A>T (p.Gln569Leu) http://identifiers.org/clinvar/344042 ^@ NM_001041.3(SI):c.2599T>C (p.Tyr867His) http://identifiers.org/clinvar/344092 ^@ NM_000055.3(BCHE):c.1178G>T (p.Gly393Val) http://identifiers.org/clinvar/344142 ^@ NM_000340.1(SLC2A2):c.*930_*934delTAAAG http://identifiers.org/clinvar/344242 ^@ NM_181426.1(CCDC39):c.*545dupC http://identifiers.org/clinvar/336663 ^@ NM_002618.3(PEX13):c.193A>G (p.Ser65Gly) http://identifiers.org/clinvar/336713 ^@ NM_032180.2(FAM161A):c.*1345G>A http://identifiers.org/clinvar/344442 ^@ NM_006580.3(CLDN16):c.-5G>A http://identifiers.org/clinvar/336813 ^@ NM_002056.3(GFPT1):c.*3579T>C http://identifiers.org/clinvar/336863 ^@ NM_002056.3(GFPT1):c.*454T>G http://identifiers.org/clinvar/344642 ^@ NM_000461.4(THRB):c.-112C>A http://identifiers.org/clinvar/344692 ^@ NM_003242.5(TGFBR2):c.*1201C>T http://identifiers.org/clinvar/346131 ^@ NM_003280.2(TNNC1):c.81C>T (p.Phe27=) http://identifiers.org/clinvar/337552 ^@ NM_014014.4(SNRNP200):c.2542G>A (p.Asp848Asn) http://identifiers.org/clinvar/346181 ^@ NM_052859.3(RFT1):c.*146C>T http://identifiers.org/clinvar/346231 ^@ NM_003392.4(WNT5A):c.*2711_*2713delCAA http://identifiers.org/clinvar/337652 ^@ NM_001298.2(CNGA3):c.67C>T (p.Arg23Ter) http://identifiers.org/clinvar/346331 ^@ NM_001457.3(FLNB):c.3240G>A (p.Pro1080=) http://identifiers.org/clinvar/346381 ^@ NM_001457.3(FLNB):c.*719G>C http://identifiers.org/clinvar/346481 ^@ NM_198859.3(PRICKLE2):c.-252G>C http://identifiers.org/clinvar/346531 ^@ NM_000248.3(MITF):c.*2068C>T http://identifiers.org/clinvar/346581 ^@ NM_032682.5(FOXP1):c.*2826A>G http://identifiers.org/clinvar/346631 ^@ NM_032682.5(FOXP1):c.*509delT http://identifiers.org/clinvar/347131 ^@ NM_005327.4(HADH):c.21G>A (p.Gln7=) http://identifiers.org/clinvar/347231 ^@ NM_001963.5(EGF):c.1066+10G>C http://identifiers.org/clinvar/347331 ^@ NM_001148.4(ANK2):c.7546A>C (p.Ser2516Arg) http://identifiers.org/clinvar/346681 ^@ NM_002942.4(ROBO2):c.930C>T (p.Val310=) http://identifiers.org/clinvar/348220 ^@ NM_000027.3(AGA):c.*680G>A http://identifiers.org/clinvar/346731 ^@ NM_002942.4(ROBO2):c.*1114G>A http://identifiers.org/clinvar/348270 ^@ NM_001151.3(SLC25A4):c.*2050A>G http://identifiers.org/clinvar/346781 ^@ NM_000158.3(GBE1):c.*176G>A http://identifiers.org/clinvar/346831 ^@ NM_000306.3(POU1F1):c.*147dupA http://identifiers.org/clinvar/346881 ^@ NM_000313.3(PROS1):c.1494T>C (p.Asn498=) http://identifiers.org/clinvar/348420 ^@ NM_133330.2(NSD2):c.199G>A (p.Gly67Ser) http://identifiers.org/clinvar/346931 ^@ NM_182896.2(ARL13B):c.*1870T>C http://identifiers.org/clinvar/361936 ^@ NM_003235.4(TG):c.3024C>T (p.Arg1008=) http://identifiers.org/clinvar/358587 ^@ NM_000108.4(DLD):c.*1307C>T http://identifiers.org/clinvar/359537 ^@ NM_001101426.3(ISPD):c.*2226_*2229dupCATA http://identifiers.org/clinvar/355409 ^@ NM_006208.2(ENPP1):c.*2900G>T http://identifiers.org/clinvar/359787 ^@ NM_032581.3(FAM126A):c.-186_-183delTGAG http://identifiers.org/clinvar/359937 ^@ NM_018947.5(CYCS):c.*248T>A http://identifiers.org/clinvar/355359 ^@ NM_006208.2(ENPP1):c.*163C>T http://identifiers.org/clinvar/364275 ^@ NM_001701.3(BAAT):c.*46G>A http://identifiers.org/clinvar/360287 ^@ NM_000162.3(GCK):c.*735C>A http://identifiers.org/clinvar/364525 ^@ NM_001079802.1(FKTN):c.*5062G>A http://identifiers.org/clinvar/356448 ^@ NM_021922.2(FANCE):c.862C>T (p.Leu288Phe) http://identifiers.org/clinvar/356548 ^@ NM_182548.3(LHFPL5):c.*779G>A http://identifiers.org/clinvar/361126 ^@ NM_015713.4(RRM2B):c.*3527G>A http://identifiers.org/clinvar/356648 ^@ NM_005943.5(MOCS1):c.*212G>T http://identifiers.org/clinvar/356398 ^@ NM_080680.2(COL11A2):c.2684G>C (p.Gly895Ala) http://identifiers.org/clinvar/361326 ^@ NM_178857.5(RP1L1):c.2977G>A (p.Asp993Asn) http://identifiers.org/clinvar/356848 ^@ NM_014780.4(CUL7):c.1513G>A (p.Asp505Asn) http://identifiers.org/clinvar/365764 ^@ NM_000093.4(COL5A1):c.*870_*873dupGGGA http://identifiers.org/clinvar/361586 ^@ NM_014112.4(TRPS1):c.*1501A>G http://identifiers.org/clinvar/356948 ^@ NM_006502.2(POLH):c.*1815T>C http://identifiers.org/clinvar/366065 ^@ NM_144966.5(FREM1):c.*2069G>A http://identifiers.org/clinvar/361886 ^@ NM_004519.3(KCNQ3):c.-85C>T http://identifiers.org/clinvar/366215 ^@ NM_003070.4(SMARCA2):c.2933A>T (p.Tyr978Phe) http://identifiers.org/clinvar/357098 ^@ NM_001024630.3(RUNX2):c.*69G>T http://identifiers.org/clinvar/303217 ^@ NM_022370.3(ROBO3):c.-60G>T http://identifiers.org/clinvar/311265 ^@ NM_000131.4(F7):c.*1649G>A http://identifiers.org/clinvar/303317 ^@ NM_152722.4(HEPACAM):c.*116dupG http://identifiers.org/clinvar/367354 ^@ NM_033305.2(VPS13A):c.1453-15C>T http://identifiers.org/clinvar/303517 ^@ NM_016952.4(CDON):c.1553-11_1553-8delTCTC http://identifiers.org/clinvar/311965 ^@ NM_207361.5(FREM2):c.3737C>T (p.Thr1246Met) http://identifiers.org/clinvar/364125 ^@ NM_004612.3(TGFBR1):c.*1772A>C http://identifiers.org/clinvar/364175 ^@ NM_004612.3(TGFBR1):c.*3798G>A http://identifiers.org/clinvar/367404 ^@ NM_033305.2(VPS13A):c.6880-6dupT http://identifiers.org/clinvar/298539 ^@ NM_022039.3(FBXW4):c.42_44dupGGC (p.Ala15_Arg16insAla) http://identifiers.org/clinvar/304256 ^@ NM_000218.2(KCNQ1):c.*712G>A http://identifiers.org/clinvar/312615 ^@ NM_001376.4(DYNC1H1):c.-5A>G http://identifiers.org/clinvar/312665 ^@ NM_001376.4(DYNC1H1):c.13515+8C>T http://identifiers.org/clinvar/364075 ^@ NM_014290.2(TDRD7):c.2491A>G (p.Ser831Gly) http://identifiers.org/clinvar/298639 ^@ NM_017649.4(CNNM2):c.604G>A (p.Ala202Thr) http://identifiers.org/clinvar/304706 ^@ NM_021926.3(ALX4):c.621A>G (p.Ser207=) http://identifiers.org/clinvar/304856 ^@ NM_002334.3(LRP4):c.4646G>A (p.Arg1549Gln) http://identifiers.org/clinvar/304906 ^@ NM_002334.3(LRP4):c.-5G>A http://identifiers.org/clinvar/313654 ^@ NM_182914.2(SYNE2):c.19867C>T (p.Leu6623=) http://identifiers.org/clinvar/313754 ^@ NM_000347.5(SPTB):c.2005C>T (p.Leu669=) http://identifiers.org/clinvar/305056 ^@ NM_016464.4(TMEM138):c.-169C>T http://identifiers.org/clinvar/299728 ^@ NM_014915.2(ANKRD26):c.4676A>G (p.Tyr1559Cys) http://identifiers.org/clinvar/314154 ^@ NM_031427.3(DNAL1):c.*7690C>T http://identifiers.org/clinvar/314204 ^@ NM_182894.2(VSX2):c.*11G>A http://identifiers.org/clinvar/299928 ^@ NM_020975.4(RET):c.*1233T>C http://identifiers.org/clinvar/305508 ^@ NM_000391.3(TPP1):c.1116C>T (p.His372=) http://identifiers.org/clinvar/314604 ^@ NM_004863.3(SPTLC2):c.*3612T>A http://identifiers.org/clinvar/300128 ^@ NM_000242.2(MBL2):c.*1452A>T http://identifiers.org/clinvar/314754 ^@ NM_000153.3(GALC):c.583-11T>C http://identifiers.org/clinvar/299628 ^@ NM_178161.2(PTF1A):c.*15G>A http://identifiers.org/clinvar/314804 ^@ NM_198309.3(TTC8):c.1433C>T (p.Ala478Val) http://identifiers.org/clinvar/299678 ^@ NM_017433.4(MYO3A):c.4489C>T (p.Arg1497Trp) http://identifiers.org/clinvar/314904 ^@ NM_004239.4(TRIP11):c.*904A>G http://identifiers.org/clinvar/300278 ^@ NM_000399.4(EGR2):c.541C>T (p.Leu181Phe) http://identifiers.org/clinvar/300328 ^@ NM_001083116.1(PRF1):c.1112G>A (p.Arg371Lys) http://identifiers.org/clinvar/299878 ^@ NM_021252.4(RAB18):c.*3729G>C http://identifiers.org/clinvar/300478 ^@ NM_022124.5(CDH23):c.9942G>A (p.Thr3314=) http://identifiers.org/clinvar/315743 ^@ NM_152594.2(SPRED1):c.*565A>C http://identifiers.org/clinvar/300178 ^@ NM_033056.3(PCDH15):c.4202+5G>A http://identifiers.org/clinvar/311065 ^@ NM_001845.5(COL4A1):c.1000-5T>G http://identifiers.org/clinvar/329366 ^@ NM_000709.3(BCKDHA):c.995+8C>T http://identifiers.org/clinvar/309921 ^@ NM_005379.3(MYO1A):c.340G>A (p.Val114Met) http://identifiers.org/clinvar/309971 ^@ NM_000075.3(CDK4):c.*437C>G http://identifiers.org/clinvar/311415 ^@ NM_002010.2(FGF9):c.-117dupT http://identifiers.org/clinvar/310121 ^@ NM_001038.5(SCNN1A):c.*736T>G http://identifiers.org/clinvar/310271 ^@ NM_021150.3(GRIP1):c.*1328G>A http://identifiers.org/clinvar/311815 ^@ NM_001127217.2(SMAD9):c.*3590delA http://identifiers.org/clinvar/312015 ^@ NM_207361.5(FREM2):c.7216-5C>T http://identifiers.org/clinvar/312065 ^@ NM_207361.5(FREM2):c.*2140C>G http://identifiers.org/clinvar/312115 ^@ NM_207361.5(FREM2):c.*5870delC http://identifiers.org/clinvar/337752 ^@ NM_000214.2(JAG1):c.2231G>A (p.Arg744Gln) http://identifiers.org/clinvar/337852 ^@ NM_000361.2(THBD):c.*1918G>A http://identifiers.org/clinvar/311015 ^@ NM_001845.5(COL4A1):c.*265A>G http://identifiers.org/clinvar/338252 ^@ NM_032034.3(SLC4A11):c.813G>A (p.Thr271=) http://identifiers.org/clinvar/311115 ^@ NM_001846.3(COL4A2):c.912+9C>T http://identifiers.org/clinvar/338202 ^@ NM_006892.3(DNMT3B):c.*1332C>T http://identifiers.org/clinvar/338402 ^@ NM_005461.4(MAFB):c.*209A>C http://identifiers.org/clinvar/338452 ^@ NM_000457.4(HNF4A):c.*987G>T http://identifiers.org/clinvar/311315 ^@ NM_021954.3(GJA3):c.*846G>A http://identifiers.org/clinvar/338502 ^@ NM_000022.3(ADA):c.*173G>C http://identifiers.org/clinvar/338552 ^@ NM_004994.2(MMP9):c.906C>A (p.Cys302Ter) http://identifiers.org/clinvar/311465 ^@ NM_002010.2(FGF9):c.*2210delT http://identifiers.org/clinvar/338602 ^@ NM_030777.3(SLC2A10):c.*143G>A http://identifiers.org/clinvar/311515 ^@ NM_014363.5(SACS):c.8990G>A (p.Arg2997Gln) http://identifiers.org/clinvar/311565 ^@ NM_014363.5(SACS):c.1219C>A (p.Leu407Ile) http://identifiers.org/clinvar/338702 ^@ NM_006420.2(ARFGEF2):c.4480A>G (p.Met1494Val) http://identifiers.org/clinvar/311665 ^@ NM_000059.3(BRCA2):c.*248T>C http://identifiers.org/clinvar/311865 ^@ NM_001127217.2(SMAD9):c.*992G>A http://identifiers.org/clinvar/320696 ^@ NM_022041.3(GAN):c.*1585T>C http://identifiers.org/clinvar/313854 ^@ NM_015346.3(ZFYVE26):c.*1214C>G http://identifiers.org/clinvar/312265 ^@ NM_003850.2(SUCLA2):c.*35T>G http://identifiers.org/clinvar/312315 ^@ NM_000321.2(RB1):c.*1459T>C http://identifiers.org/clinvar/314004 ^@ NM_000021.3(PSEN1):c.*3941C>A http://identifiers.org/clinvar/340292 ^@ NM_130445.3(COL18A1):c.*584C>A http://identifiers.org/clinvar/326727 ^@ NM_015559.2(SETBP1):c.812G>C (p.Gly271Ala) http://identifiers.org/clinvar/326777 ^@ NM_015559.2(SETBP1):c.*1549A>G http://identifiers.org/clinvar/326827 ^@ NM_144612.6(LOXHD1):c.6274G>A (p.Val2092Ile) http://identifiers.org/clinvar/328716 ^@ NM_001031726.3(C19orf12):c.*791G>A http://identifiers.org/clinvar/367954 ^@ NM_003413.3(ZIC3):c.906C>T (p.Cys302=) http://identifiers.org/clinvar/327127 ^@ NM_005359.5(SMAD4):c.*1277G>T http://identifiers.org/clinvar/328866 ^@ NM_004646.3(NPHS1):c.1861G>A (p.Val621Met) http://identifiers.org/clinvar/328916 ^@ NM_001083961.1(WDR62):c.2007C>T (p.Ser669=) http://identifiers.org/clinvar/327177 ^@ NM_005359.5(SMAD4):c.*5235C>G http://identifiers.org/clinvar/368154 ^@ NM_000444.5(PHEX):c.-108A>G http://identifiers.org/clinvar/329216 ^@ NM_017827.3(SARS2):c.888G>A (p.Leu296=) http://identifiers.org/clinvar/327477 ^@ NM_005603.4(ATP8B1):c.2098-17_2098-15dupTTT http://identifiers.org/clinvar/329266 ^@ NM_181882.2(PRX):c.2536C>T (p.His846Tyr) http://identifiers.org/clinvar/329516 ^@ NM_000400.3(ERCC2):c.1118+4C>G http://identifiers.org/clinvar/329566 ^@ NM_025136.3(OPA3):c.*6294A>C http://identifiers.org/clinvar/327927 ^@ NM_001130823.2(DNMT1):c.358G>C (p.Val120Leu) http://identifiers.org/clinvar/328816 ^@ NM_000285.3(PEPD):c.462C>T (p.Ser154=) http://identifiers.org/clinvar/337802 ^@ NM_006363.4(SEC23B):c.*448C>T http://identifiers.org/clinvar/328966 ^@ NM_032753.3(RAX2):c.282C>T (p.Ala94=) http://identifiers.org/clinvar/338102 ^@ NM_015338.5(ASXL1):c.2802T>C (p.Ala934=) http://identifiers.org/clinvar/338152 ^@ NM_006892.3(DNMT3B):c.143-9C>G http://identifiers.org/clinvar/329316 ^@ NM_003573.2(LTBP4):c.2328C>T (p.Pro776=) http://identifiers.org/clinvar/329416 ^@ NM_152296.4(ATP1A3):c.1527C>T (p.Ser509=) http://identifiers.org/clinvar/329466 ^@ NM_212550.4(BLOC1S3):c.-71G>A http://identifiers.org/clinvar/329616 ^@ NM_025136.3(OPA3):c.*3878A>G http://identifiers.org/clinvar/338752 ^@ NM_003859.2(DPM1):c.679-7_679-6insT http://identifiers.org/clinvar/338853 ^@ NM_144773.3(PROKR2):c.1005G>A (p.Thr335=) http://identifiers.org/clinvar/337702 ^@ NM_018848.3(MKKS):c.-417-13dupT http://identifiers.org/clinvar/337902 ^@ NM_198994.2(TGM6):c.42G>A (p.Ser14=) http://identifiers.org/clinvar/337952 ^@ NM_014588.5(VSX1):c.*199G>A http://identifiers.org/clinvar/338002 ^@ NM_001042472.2(ABHD12):c.-94C>T http://identifiers.org/clinvar/340392 ^@ NM_001849.3(COL6A2):c.*56T>G http://identifiers.org/clinvar/338302 ^@ NM_000178.3(GSS):c.4delG (p.Ala2Profs) http://identifiers.org/clinvar/340492 ^@ NM_006031.5(PCNT):c.4555G>A (p.Asp1519Asn) http://identifiers.org/clinvar/338652 ^@ NM_000311.4(PRNP):c.424G>A (p.Gly142Ser) http://identifiers.org/clinvar/340793 ^@ NM_017929.5(PEX26):c.*1631G>T http://identifiers.org/clinvar/340843 ^@ NM_004782.3(SNAP29):c.*472_*483delCATTCACACACAinsT http://identifiers.org/clinvar/338803 ^@ NM_000782.4(CYP24A1):c.*375A>G http://identifiers.org/clinvar/341043 ^@ NM_001887.3(CRYBB1):c.576-3C>A http://identifiers.org/clinvar/341093 ^@ NM_000268.3(NF2):c.*704delA http://identifiers.org/clinvar/341193 ^@ NM_000355.3(TCN2):c.408G>C (p.Glu136Asp) http://identifiers.org/clinvar/341443 ^@ NM_004737.5(LARGE1):c.-212G>C http://identifiers.org/clinvar/341593 ^@ NM_153609.3(TMPRSS6):c.909G>A (p.Ala303=) http://identifiers.org/clinvar/388594 ^@ NM_000083.2(CLCN1):c.2284+19G>A http://identifiers.org/clinvar/389433 ^@ NM_020822.2(KCNT1):c.399C>A (p.Arg133=) http://identifiers.org/clinvar/388394 ^@ NM_000051.3(ATM):c.489G>A (p.Gln163=) http://identifiers.org/clinvar/379157 ^@ NM_000535.6(PMS2):c.495A>G (p.Thr165=) http://identifiers.org/clinvar/387644 ^@ NM_000535.6(PMS2):c.164-15T>C http://identifiers.org/clinvar/384504 ^@ NM_001134363.2(RBM20):c.3574-15C>T http://identifiers.org/clinvar/381560 ^@ NM_000391.3(TPP1):c.887-18A>G http://identifiers.org/clinvar/384605 ^@ NM_000742.3(CHRNA2):c.966G>A (p.Ser322=) http://identifiers.org/clinvar/378149 ^@ NM_052845.3(MMAB):c.394T>C (p.Cys132Arg) http://identifiers.org/clinvar/392422 ^@ NM_006231.3(POLE):c.4552-11C>G http://identifiers.org/clinvar/387744 ^@ NM_001164277.1(SLC37A4):c.-700+10G>T http://identifiers.org/clinvar/381911 ^@ NM_018400.3(SCN3B):c.219+18C>T http://identifiers.org/clinvar/384905 ^@ NM_000719.6(CACNA1C):c.3946-46C>T http://identifiers.org/clinvar/378655 ^@ NM_001130438.2(SPTAN1):c.2438-15G>A http://identifiers.org/clinvar/385355 ^@ NM_001909.4(CTSD):c.621C>A (p.Ser207=) http://identifiers.org/clinvar/378757 ^@ NM_000391.3(TPP1):c.435T>C (p.Pro145=) http://identifiers.org/clinvar/378555 ^@ NM_014191.3(SCN8A):c.726T>A (p.Gly242=) http://identifiers.org/clinvar/382262 ^@ NM_024649.4(BBS1):c.329C>A (p.Pro110His) http://identifiers.org/clinvar/381410 ^@ NM_001876.3(CPT1A):c.518G>A (p.Arg173His) http://identifiers.org/clinvar/385205 ^@ NM_020822.2(KCNT1):c.2349+20C>T http://identifiers.org/clinvar/389533 ^@ NM_017617.4(NOTCH1):c.2468-19G>A http://identifiers.org/clinvar/381760 ^@ NM_006231.3(POLE):c.1360-14C>T http://identifiers.org/clinvar/387994 ^@ NM_003850.2(SUCLA2):c.490A>C (p.Arg164=) http://identifiers.org/clinvar/382362 ^@ NM_001376.4(DYNC1H1):c.6619-19G>A http://identifiers.org/clinvar/389883 ^@ NM_020297.3(ABCC9):c.3590G>A (p.Arg1197His) http://identifiers.org/clinvar/381811 ^@ NM_003383.4(VLDLR):c.1485-12A>G http://identifiers.org/clinvar/390683 ^@ NM_012062.4(DNM1L):c.436G>A (p.Asp146Asn) http://identifiers.org/clinvar/387344 ^@ NM_020987.4(ANK3):c.9971A>G (p.Tyr3324Cys) http://identifiers.org/clinvar/387944 ^@ NM_000138.4(FBN1):c.6497-12G>C http://identifiers.org/clinvar/387894 ^@ NM_000059.3(BRCA2):c.3381T>C (p.Phe1127=) http://identifiers.org/clinvar/383353 ^@ NM_002693.2(POLG):c.1713-12G>A http://identifiers.org/clinvar/390033 ^@ NM_001909.4(CTSD):c.1230C>T (p.Ala410=) http://identifiers.org/clinvar/389633 ^@ NM_032374.4(APOPT1):c.162+12C>T http://identifiers.org/clinvar/379007 ^@ NM_000257.3(MYH7):c.4893C>T (p.His1631=) http://identifiers.org/clinvar/384705 ^@ NM_152264.4(SLC39A13):c.58A>G (p.Thr20Ala) http://identifiers.org/clinvar/385705 ^@ NM_002693.2(POLG):c.3483-17G>C http://identifiers.org/clinvar/385605 ^@ NM_000138.4(FBN1):c.6793T>G (p.Cys2265Gly) http://identifiers.org/clinvar/47419 ^@ TTN:c.83056G>A (p.Val27686Ile) http://identifiers.org/clinvar/47470 ^@ NM_133378.4(TTN):c.80173C>T (p.Arg26725Cys) http://identifiers.org/clinvar/47520 ^@ NM_133378.4(TTN):c.84472C>T (p.Pro28158Ser) http://identifiers.org/clinvar/47570 ^@ NM_133378.4(TTN):c.88606+11T>C http://identifiers.org/clinvar/47620 ^@ NM_001256850.1(TTN):c.94907G>A (p.Gly31636Glu) http://identifiers.org/clinvar/47670 ^@ NM_133378.4(TTN):c.96673A>C (p.Met32225Leu) http://identifiers.org/clinvar/47720 ^@ NM_133378.4(TTN):c.99872T>C (p.Met33291Thr) http://identifiers.org/clinvar/47770 ^@ NM_133379.4(TTN):c.14258G>T (p.Cys4753Phe) http://identifiers.org/clinvar/47820 ^@ NM_133432.3(TTN):c.11494G>T (p.Glu3832Ter) http://identifiers.org/clinvar/47870 ^@ NM_138691.2(TMC1):c.247_249delGAA (p.Glu83del) http://identifiers.org/clinvar/47920 ^@ NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) http://identifiers.org/clinvar/48513 ^@ NM_206933.2(USH2A):c.4335T>C (p.Thr1445=) http://identifiers.org/clinvar/60 ^@ NM_006642.3(SDCCAG8):c.740+356C>T http://identifiers.org/clinvar/180 ^@ NM_000274.3(OAT):c.824G>A (p.Trp275Ter) http://identifiers.org/clinvar/207 ^@ NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg) http://identifiers.org/clinvar/239 ^@ NM_000398.6(CYB5R3):c.463+8G>C http://identifiers.org/clinvar/340 ^@ NM_000267.3(NF1):c.6511T>A (p.Tyr2171Asn) http://identifiers.org/clinvar/423 ^@ NM_199074.1(NDUFAF3):c.194G>C (p.Arg65Pro) http://identifiers.org/clinvar/464 ^@ NM_000035.3(ALDOB):c.448G>C (p.Ala150Pro) http://identifiers.org/clinvar/582 ^@ NM_000277.1(PAH):c.782G>A (p.Arg261Gln) http://identifiers.org/clinvar/591 ^@ NM_000277.1(PAH):c.728G>A (p.Arg243Gln) http://identifiers.org/clinvar/859 ^@ NM_013319.2(UBIAD1):c.524C>T (p.Thr175Ile) http://identifiers.org/clinvar/896 ^@ NM_000181.3(GUSB):c.1061C>T (p.Ala354Val) http://identifiers.org/clinvar/1292 ^@ TRMU, IVS3AS, G-A, -1 http://identifiers.org/clinvar/1337 ^@ NM_025114.3(CEP290):c.2991+1655A>G http://identifiers.org/clinvar/1382 ^@ NM_001142301.1(TMEM67):c.2218G>A (p.Gly740Ser) http://identifiers.org/clinvar/1428 ^@ NM_001177317.1(SLC34A3):c.1238C>A (p.Ala413Glu) http://identifiers.org/clinvar/1473 ^@ NM_000190.3(HMBS):c.755C>T (p.Ala252Val) http://identifiers.org/clinvar/1519 ^@ NM_000237.2(LPL):c.607G>A (p.Ala203Thr) http://identifiers.org/clinvar/1564 ^@ NM_000263.3(NAGLU):c.503_512delGGAGCGGCCA (p.Ser169Argfs) http://identifiers.org/clinvar/1609 ^@ NM_024884.2(L2HGDH):c.906+1G>T http://identifiers.org/clinvar/1659 ^@ NM_000785.3(CYP27B1):c.374G>A (p.Gly125Glu) http://identifiers.org/clinvar/1703 ^@ NM_000124.3(ERCC6):c.1357C>T (p.Arg453Ter) http://identifiers.org/clinvar/1750 ^@ NM_000787.3(DBH):c.339+2T>C http://identifiers.org/clinvar/1845 ^@ NM_138701.3(MPLKIP):c.137_138delGG (p.Gly46Glufs) http://identifiers.org/clinvar/1890 ^@ MUT, 1808G-A http://identifiers.org/clinvar/1935 ^@ NM_020166.4(MCCC1):c.1380T>G (p.Ile460Met) http://identifiers.org/clinvar/1980 ^@ NM_000022.3(ADA):c.698C>T (p.Thr233Ile) http://identifiers.org/clinvar/2024 ^@ NM_017780.3(CHD7):c.5418C>G (p.Tyr1806Ter) http://identifiers.org/clinvar/2115 ^@ NM_003477.2(PDHX):c.1024-1G>A http://identifiers.org/clinvar/2161 ^@ NM_213599.2(ANO5):c.1066T>C (p.Cys356Arg) http://identifiers.org/clinvar/2207 ^@ NM_024006.5(VKORC1):c.85G>T (p.Val29Leu) http://identifiers.org/clinvar/2252 ^@ NCF1, 1-BP DEL, NT811 http://identifiers.org/clinvar/2298 ^@ NM_005609.3(PYGM):c.148C>T (p.Arg50Ter) http://identifiers.org/clinvar/2343 ^@ NM_032601.3(MCEE):c.139C>T (p.Arg47Ter) http://identifiers.org/clinvar/2434 ^@ NM_153006.2(NAGS):c.1299G>C (p.Glu433Asp) http://identifiers.org/clinvar/3306 ^@ LIPH, 90-BP DUP, NT280 http://identifiers.org/clinvar/3351 ^@ NM_000348.3(SRD5A2):c.680G>A (p.Arg227Gln) http://identifiers.org/clinvar/10150 ^@ F8, IVS22 INV http://identifiers.org/clinvar/10196 ^@ NM_000132.3(F8):c.935T>C (p.Phe312Ser) http://identifiers.org/clinvar/10240 ^@ NM_000132.3(F8):c.1957G>A (p.Val653Met) http://identifiers.org/clinvar/10286 ^@ NM_000132.3(F8):c.5593G>A (p.Asp1865Asn) http://identifiers.org/clinvar/10330 ^@ NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) http://identifiers.org/clinvar/10378 ^@ NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) http://identifiers.org/clinvar/10657 ^@ NM_000133.3(F9):c.82T>C (p.Cys28Arg) http://identifiers.org/clinvar/10702 ^@ NM_203473.2(PORCN):c.370C>T (p.Arg124Ter) http://identifiers.org/clinvar/10748 ^@ NM_000169.2(GLA):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/10793 ^@ NM_152692.4(C1GALT1C1):c.454G>A (p.Glu152Lys) http://identifiers.org/clinvar/242795 ^@ NM_000444.5(PHEX):c.755T>C (p.Phe252Ser) http://identifiers.org/clinvar/12344 ^@ TNFRSF1A, 3-BP DEL, NT211 http://identifiers.org/clinvar/12395 ^@ NM_000548.4(TSC2):c.2056_2059dupTACT (p.Ser687Leufs) http://identifiers.org/clinvar/12800 ^@ NM_004959.4(NR5A1):c.43G>A (p.Val15Met) http://identifiers.org/clinvar/12850 ^@ NM_003126.2(SPTA1):c.137G>T (p.Gly46Val) http://identifiers.org/clinvar/12901 ^@ SCN1A, 1-BP DEL, 3608A http://identifiers.org/clinvar/12951 ^@ NM_000541.4(SAG):c.926delA (p.Asn309Thrfs) http://identifiers.org/clinvar/13002 ^@ NM_000996.2(RPL35A):c.82_84delCTT (p.Leu28del) http://identifiers.org/clinvar/13053 ^@ NM_000539.3(RHO):c.1040C>A (p.Pro347Gln) http://identifiers.org/clinvar/13104 ^@ NM_000283.3(PDE6B):c.1591C>T (p.Arg531Ter) http://identifiers.org/clinvar/13154 ^@ NM_000448.2(RAG1):c.2521C>T (p.Arg841Trp) http://identifiers.org/clinvar/13206 ^@ NM_005411.4(SFTPA1):c.655C>T (p.Arg219Trp) http://identifiers.org/clinvar/13257 ^@ NM_001079.3(ZAP70):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/13308 ^@ NM_000506.3(F2):c.1292G>A (p.Arg431His) http://identifiers.org/clinvar/13358 ^@ NM_001035256.2(POMC):c.151A>T (p.Lys51Ter) http://identifiers.org/clinvar/13412 ^@ NM_000311.4(PRNP):c.560A>G (p.His187Arg) http://identifiers.org/clinvar/13463 ^@ NM_000371.3(TTR):c.113A>G (p.Asp38Gly) http://identifiers.org/clinvar/13514 ^@ NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) http://identifiers.org/clinvar/13564 ^@ NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter) http://identifiers.org/clinvar/36742 ^@ NM_001035.2(RYR2):c.4040T>G (p.Met1347Arg) http://identifiers.org/clinvar/36793 ^@ NM_139276.2(STAT3):c.711C>T (p.Asp237=) http://identifiers.org/clinvar/36843 ^@ NM_000458.3(HNF1B):c.1654-22T>C http://identifiers.org/clinvar/36894 ^@ NM_080911.2(UNG):c.246G>C (p.Leu82=) http://identifiers.org/clinvar/36963 ^@ NM_002501.3(NFIX):c.959dupC (p.Ala321Glyfs) http://identifiers.org/clinvar/37062 ^@ NM_015426.4(POC1A):c.241C>T (p.Arg81Ter) http://identifiers.org/clinvar/37132 ^@ NM_022787.3(NMNAT1):c.838T>C (p.Ter280Gln) http://identifiers.org/clinvar/37264 ^@ NM_145725.2(TRAF3):c.352C>T (p.Arg118Trp) http://identifiers.org/clinvar/37354 ^@ NM_000155.3(GALT):c.748C>A (p.Pro250Thr) http://identifiers.org/clinvar/37419 ^@ NM_007294.3(BRCA1):c.1532G>T (p.Gly511Val) http://identifiers.org/clinvar/37471 ^@ NM_007294.3(BRCA1):c.2457delC (p.Asp821Ilefs) http://identifiers.org/clinvar/37529 ^@ NM_007294.3(BRCA1):c.3400G>T (p.Glu1134Ter) http://identifiers.org/clinvar/37582 ^@ NM_007294.3(BRCA1):c.429A>C (p.Glu143Asp) http://identifiers.org/clinvar/37634 ^@ NM_007294.3(BRCA1):c.5075-6C>A http://identifiers.org/clinvar/37690 ^@ NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser) http://identifiers.org/clinvar/37742 ^@ NM_000059.3(BRCA2):c.1472C>G (p.Thr491Ser) http://identifiers.org/clinvar/37795 ^@ NM_000059.3(BRCA2):c.2618_2619delTA (p.Ile873Asnfs) http://identifiers.org/clinvar/37847 ^@ NM_000059.3(BRCA2):c.3569G>A (p.Arg1190Gln) http://identifiers.org/clinvar/37899 ^@ NM_000059.3(BRCA2):c.4405_4409delGACAT (p.Asp1469Lysfs) http://identifiers.org/clinvar/37953 ^@ NM_000059.3(BRCA2):c.5229_5231delTAG (p.Ser1744del) http://identifiers.org/clinvar/38005 ^@ NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) http://identifiers.org/clinvar/38060 ^@ NM_000059.3(BRCA2):c.6644_6647delACTC (p.Tyr2215Serfs) http://identifiers.org/clinvar/38110 ^@ NM_000059.3(BRCA2):c.7618-1G>A http://identifiers.org/clinvar/38160 ^@ NM_000059.3(BRCA2):c.8464A>T (p.Ile2822Phe) http://identifiers.org/clinvar/38210 ^@ NM_000059.3(BRCA2):c.9101A>G (p.Gln3034Arg) http://identifiers.org/clinvar/39499 ^@ ANO3, LYS862ASN http://identifiers.org/clinvar/39549 ^@ ALOXE3, PRO630LEU http://identifiers.org/clinvar/39599 ^@ NM_020822.2(KCNT1):c.1193G>A (p.Arg398Gln) http://identifiers.org/clinvar/39651 ^@ NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) http://identifiers.org/clinvar/39703 ^@ NM_006218.3(PIK3CA):c.2740G>A (p.Gly914Arg) http://identifiers.org/clinvar/40292 ^@ LRP5, 7.2-KB DEL, EXONS 22-23 http://identifiers.org/clinvar/40401 ^@ NM_005188.3(CBL):c.306T>G (p.Tyr102Ter) http://identifiers.org/clinvar/40470 ^@ NM_002524.4(NRAS):c.35G>T (p.Gly12Val) http://identifiers.org/clinvar/40530 ^@ NM_002834.4(PTPN11):c.854-32A>C http://identifiers.org/clinvar/40590 ^@ NM_002880.3(RAF1):c.418A>C (p.Asn140His) http://identifiers.org/clinvar/40655 ^@ NM_005633.3(SOS1):c.570C>T (p.Asp190=) http://identifiers.org/clinvar/40745 ^@ NM_002755.3(MAP2K1):c.383_384delGCinsTT (p.Gly128Val) http://identifiers.org/clinvar/40840 ^@ NM_030662.3(MAP2K2):c.981C>T (p.Asn327=) http://identifiers.org/clinvar/41015 ^@ NM_000530.7(MPZ):c.175T>A (p.Ser59Thr) http://identifiers.org/clinvar/41070 ^@ NM_003611.2(OFD1):c.1268_1272delAAAAC (p.Gln423Profs) http://identifiers.org/clinvar/41127 ^@ NM_003611.2(OFD1):c.518-?_935+?del http://identifiers.org/clinvar/41179 ^@ NM_003977.3(AIP):c.424C>T (p.Gln142Ter) http://identifiers.org/clinvar/41237 ^@ NM_006158.4(NEFL):c.446C>T (p.Ala149Val) http://identifiers.org/clinvar/51139 ^@ NM_000059.3(BRCA2):c.1528G>T (p.Glu510Ter) http://identifiers.org/clinvar/51190 ^@ NM_000059.3(BRCA2):c.1773_1776delTTAT (p.Ile591Metfs) http://identifiers.org/clinvar/51243 ^@ NM_000059.3(BRCA2):c.2097G>T (p.Gln699His) http://identifiers.org/clinvar/51293 ^@ NM_000059.3(BRCA2):c.246dupA (p.Glu83Argfs) http://identifiers.org/clinvar/51344 ^@ NM_000059.3(BRCA2):c.2786delT (p.Leu929Tyrfs) http://identifiers.org/clinvar/51394 ^@ NM_000059.3(BRCA2):c.3075G>T (p.Lys1025Asn) http://identifiers.org/clinvar/51446 ^@ NM_000059.3(BRCA2):c.3296C>G (p.Ser1099Ter) http://identifiers.org/clinvar/51497 ^@ NM_000059.3(BRCA2):c.3641dupT (p.Phe1216Valfs) http://identifiers.org/clinvar/51547 ^@ NM_000059.3(BRCA2):c.3863A>T (p.Asn1288Ile) http://identifiers.org/clinvar/51599 ^@ NM_000059.3(BRCA2):c.4111C>T (p.Gln1371Ter) http://identifiers.org/clinvar/51651 ^@ NM_000059.3(BRCA2):c.4464_4465delCA (p.His1488Glnfs) http://identifiers.org/clinvar/51703 ^@ NM_000059.3(BRCA2):c.4730dupA (p.Leu1578Ilefs) http://identifiers.org/clinvar/51753 ^@ NM_000059.3(BRCA2):c.4999dupT (p.Ser1667Phefs) http://identifiers.org/clinvar/51805 ^@ NM_000059.3(BRCA2):c.517G>T (p.Gly173Cys) http://identifiers.org/clinvar/51858 ^@ NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) http://identifiers.org/clinvar/51910 ^@ NM_000059.3(BRCA2):c.5699C>A (p.Ser1900Ter) http://identifiers.org/clinvar/51962 ^@ NM_000059.3(BRCA2):c.5898delT (p.His1966Glnfs) http://identifiers.org/clinvar/52013 ^@ NM_000059.3(BRCA2):c.6103delA (p.Thr2035Leufs) http://identifiers.org/clinvar/52064 ^@ NM_000059.3(BRCA2):c.632-69T>C http://identifiers.org/clinvar/52422 ^@ NM_000059.3(BRCA2):c.7819A>C (p.Thr2607Pro) http://identifiers.org/clinvar/52472 ^@ NM_000059.3(BRCA2):c.800G>A (p.Gly267Glu) http://identifiers.org/clinvar/53425 ^@ NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) http://identifiers.org/clinvar/53479 ^@ NM_000492.3(CFTR):c.2346C>A (p.Asn782Lys) http://identifiers.org/clinvar/53529 ^@ NM_000492.3(CFTR):c.2620-26A>G http://identifiers.org/clinvar/53579 ^@ NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) http://identifiers.org/clinvar/53630 ^@ NM_000492.3(CFTR):c.3023T>A (p.Val1008Asp) http://identifiers.org/clinvar/53682 ^@ NM_000492.3(CFTR):c.3200C>G (p.Ala1067Gly) http://identifiers.org/clinvar/53732 ^@ NM_000492.3(CFTR):c.3400_3401delACinsGTA (p.Thr1134Valfs) http://identifiers.org/clinvar/53783 ^@ NM_000492.3(CFTR):c.3623delG (p.Gly1208Alafs) http://identifiers.org/clinvar/53835 ^@ NM_000492.3(CFTR):c.3876delA (p.Val1293Tyrfs) http://identifiers.org/clinvar/53887 ^@ NM_000492.3(CFTR):c.409delC (p.Leu137Serfs) http://identifiers.org/clinvar/53988 ^@ NM_000492.3(CFTR):c.53+1G>T http://identifiers.org/clinvar/54038 ^@ NM_000492.3(CFTR):c.673T>C (p.Cys225Arg) http://identifiers.org/clinvar/54090 ^@ NM_000492.3(CFTR):c.941G>T (p.Gly314Val) http://identifiers.org/clinvar/54140 ^@ NM_007294.3(BRCA1):c.1127delA (p.Asn376Ilefs) http://identifiers.org/clinvar/54190 ^@ NM_007294.3(BRCA1):c.1297delG (p.Ala433Profs) http://identifiers.org/clinvar/54240 ^@ NM_007294.3(BRCA1):c.1396C>G (p.Arg466Gly) http://identifiers.org/clinvar/54291 ^@ NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) http://identifiers.org/clinvar/54341 ^@ NM_007294.3(BRCA1):c.1747A>T (p.Lys583Ter) http://identifiers.org/clinvar/54392 ^@ NM_007294.3(BRCA1):c.1901C>G (p.Pro634Arg) http://identifiers.org/clinvar/54442 ^@ NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) http://identifiers.org/clinvar/54492 ^@ NM_007294.3(BRCA1):c.2194G>T (p.Glu732Ter) http://identifiers.org/clinvar/54542 ^@ NM_007294.3(BRCA1):c.2350T>G (p.Ser784Ala) http://identifiers.org/clinvar/54592 ^@ NM_007294.3(BRCA1):c.2527A>G (p.Thr843Ala) http://identifiers.org/clinvar/54642 ^@ NM_007294.3(BRCA1):c.267C>G (p.Ile89Met) http://identifiers.org/clinvar/54692 ^@ NM_007294.3(BRCA1):c.2834_2835delGT (p.Ser945Asnfs) http://identifiers.org/clinvar/55541 ^@ NM_007294.3(BRCA1):c.5339T>C (p.Leu1780Pro) http://identifiers.org/clinvar/55591 ^@ NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs) http://identifiers.org/clinvar/55641 ^@ NM_007294.3(BRCA1):c.572T>A (p.Val191Asp) http://identifiers.org/clinvar/55694 ^@ NM_007294.3(BRCA1):c.768_769insA (p.His257Thrfs) http://identifiers.org/clinvar/55745 ^@ NM_007294.3(BRCA1):c.89T>A (p.Leu30Ter) http://identifiers.org/clinvar/56056 ^@ NM_000170.2(GLDC):c.1996C>T (p.Gln666Ter) http://identifiers.org/clinvar/56107 ^@ NM_000170.2(GLDC):c.861+1G>T http://identifiers.org/clinvar/56161 ^@ NM_000130.4(F5):c.5668G>A (p.Glu1890Lys) http://identifiers.org/clinvar/56212 ^@ NM_000310.3(PPT1):c.683T>G (p.Val228Gly) http://identifiers.org/clinvar/56263 ^@ NM_001042432.1(CLN3):c.302T>C (p.Leu101Pro) http://identifiers.org/clinvar/56315 ^@ NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) http://identifiers.org/clinvar/56365 ^@ NM_001126105.2(SLC7A7):c.254_255delTT (p.Phe85Trpfs) http://identifiers.org/clinvar/56417 ^@ NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) http://identifiers.org/clinvar/56467 ^@ NM_004646.3(NPHS1):c.2216C>T (p.Ala739Val) http://identifiers.org/clinvar/56517 ^@ NM_004646.3(NPHS1):c.609-2A>C http://identifiers.org/clinvar/56568 ^@ NM_015294.4(TRIM37):c.2212delG (p.Glu738Asnfs) http://identifiers.org/clinvar/56625 ^@ NM_017777.3(MKS1):c.51_55dupCCGGG (p.Asp19Alafs) http://identifiers.org/clinvar/56676 ^@ NM_017890.4(VPS13B):c.5737dupA (p.Ile1913Asnfs) http://identifiers.org/clinvar/56726 ^@ NM_021830.4(TWNK):c.1366C>G (p.Leu456Val) http://identifiers.org/clinvar/56776 ^@ NM_153704.5(TMEM67):c.2542G>T (p.Glu848Ter) http://identifiers.org/clinvar/56966 ^@ NG_021416.1:g.615_8308del7694insAGAGATCCA http://identifiers.org/clinvar/57038 ^@ GRCh38/hg38 Xq27.3-28(chrX:146896288-149621145)x1 http://identifiers.org/clinvar/57091 ^@ GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 http://identifiers.org/clinvar/57146 ^@ GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1 http://identifiers.org/clinvar/57196 ^@ GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 http://identifiers.org/clinvar/57303 ^@ GRCh38/hg38 6q27(chr6:168524169-170612001)x1 http://identifiers.org/clinvar/57356 ^@ GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 http://identifiers.org/clinvar/57407 ^@ GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 http://identifiers.org/clinvar/120182 ^@ NM_001040616.2(LINS1):c.985_988delCATG (p.His329Terfs) http://identifiers.org/clinvar/120259 ^@ NM_000277.1(PAH):c.1152C>G (p.Pro384=) http://identifiers.org/clinvar/120309 ^@ NM_139242.3(MTFMT):c.452C>T (p.Pro151Leu) http://identifiers.org/clinvar/126311 ^@ NM_006015.4(ARID1A):c.5114A>G (p.Asn1705Ser) http://identifiers.org/clinvar/126362 ^@ NM_001128849.1(SMARCA4):c.4053C>T (p.Asp1351=) http://identifiers.org/clinvar/126419 ^@ NM_021978.3(ST14):c.2269+1G>A http://identifiers.org/clinvar/126491 ^@ NG_011470.1:g.2438C= http://identifiers.org/clinvar/126573 ^@ NM_024675.3(PALB2):c.-227T>G http://identifiers.org/clinvar/126623 ^@ NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) http://identifiers.org/clinvar/126675 ^@ NM_024675.3(PALB2):c.2718G>A (p.Trp906Ter) http://identifiers.org/clinvar/126725 ^@ PALB2:c.3202-?_*297del (p.Gly1068_Ser1186delins45) http://identifiers.org/clinvar/126776 ^@ NM_024675.3(PALB2):c.897T>C (p.Ser299=) http://identifiers.org/clinvar/126827 ^@ NM_000321.2(RB1):c.1049+1G>A http://identifiers.org/clinvar/126881 ^@ NM_017545.2(HAO1):c.814-2945A>G http://identifiers.org/clinvar/126936 ^@ NM_001127464.2(ZNF469):c.99G>A (p.Pro33=) http://identifiers.org/clinvar/126986 ^@ NM_000249.3(MLH1):c.1226A>C (p.Gln409Pro) http://identifiers.org/clinvar/127036 ^@ NM_020661.3(AICDA):c.*1934C>T http://identifiers.org/clinvar/127092 ^@ NM_001039590.2(USP9X):c.6469C>A (p.Leu2157Ile) http://identifiers.org/clinvar/127160 ^@ NM_032575.2(GLIS2):c.523T>C (p.Cys175Arg) http://identifiers.org/clinvar/127259 ^@ NM_001127255.1(NLRP7):c.1461G>A (p.Gly487=) http://identifiers.org/clinvar/127310 ^@ NM_000038.5(APC):c.5987A>T (p.Gln1996Leu) http://identifiers.org/clinvar/127360 ^@ NM_000051.3(ATM):c.2879C>T (p.Pro960Leu) http://identifiers.org/clinvar/127410 ^@ NM_000051.3(ATM):c.5653A>T (p.Thr1885Ser) http://identifiers.org/clinvar/127460 ^@ NM_000051.3(ATM):c.8558C>G (p.Thr2853Arg) http://identifiers.org/clinvar/127511 ^@ NM_000057.3(BLM):c.4126A>G (p.Ile1376Val) http://identifiers.org/clinvar/127561 ^@ NM_000179.2(MSH6):c.1646C>A (p.Ser549Tyr) http://identifiers.org/clinvar/127612 ^@ NM_000249.3(MLH1):c.1344G>T (p.Glu448Asp) http://identifiers.org/clinvar/127663 ^@ NM_000314.6(PTEN):c.-1190G>A http://identifiers.org/clinvar/127721 ^@ NM_000465.3(BARD1):c.1694G>A (p.Arg565His) http://identifiers.org/clinvar/127771 ^@ NM_000535.6(PMS2):c.2035A>G (p.Ile679Val) http://identifiers.org/clinvar/160820 ^@ GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 http://identifiers.org/clinvar/160871 ^@ GRCh38/hg38 17p12(chr17:14208455-15538752)x3 http://identifiers.org/clinvar/160924 ^@ GRCh38/hg38 15q26.1-26.2(chr15:93198717-94268636)x3 http://identifiers.org/clinvar/160975 ^@ GRCh38/hg38 2p25.3(chr2:30341-507042)x3 http://identifiers.org/clinvar/161026 ^@ GRCh38/hg38 2q37.3(chr2:241988449-242065208)x1 http://identifiers.org/clinvar/161076 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1 http://identifiers.org/clinvar/161208 ^@ NM_000069.2(CACNA1S):c.4060A>T (p.Thr1354Ser) http://identifiers.org/clinvar/161358 ^@ NM_020630.4(RET):c.2081G>A (p.Arg694Gln) http://identifiers.org/clinvar/161308 ^@ NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) http://identifiers.org/clinvar/161258 ^@ NM_000891.2(KCNJ2):c.1199C>T (p.Thr400Met) http://identifiers.org/clinvar/161414 ^@ NM_015263.3(DMXL2):c.5827_5841delGATGGCAATGGAAGT (p.Asp1943_Ser1947del) http://identifiers.org/clinvar/161677 ^@ NM_014458.3(KLHL20):c.254delT (p.Leu86Cysfs) http://identifiers.org/clinvar/161777 ^@ NM_030933.3(SHCBP1L):c.881C>A (p.Thr294Lys) http://identifiers.org/clinvar/161477 ^@ NM_001001966.1(OR14A16):c.341C>T (p.Thr114Met) http://identifiers.org/clinvar/161727 ^@ NM_019842.3(KCNQ5):c.2110G>A (p.Ala704Thr) http://identifiers.org/clinvar/161827 ^@ NM_173517.5(VKORC1L1):c.493G>T (p.Glu165Ter) http://identifiers.org/clinvar/161627 ^@ NM_004962.4(GDF10):c.1217C>T (p.Ala406Val) http://identifiers.org/clinvar/161527 ^@ NM_024811.3(CPSF7):c.654dupT (p.Glu219Terfs) http://identifiers.org/clinvar/161577 ^@ NM_001242902.1(AKAP1):c.239A>G (p.Lys80Arg) http://identifiers.org/clinvar/161991 ^@ NM_005154.4(USP8):c.2155_2157delTCC (p.Ser719del) http://identifiers.org/clinvar/162057 ^@ NM_001244008.1(KIF1A):c.643A>C (p.Ser215Arg) http://identifiers.org/clinvar/162117 ^@ NM_005211.3(CSF1R):c.2655-2A>G http://identifiers.org/clinvar/162176 ^@ NC_000016.10:g.56959412C>A http://identifiers.org/clinvar/162388 ^@ NM_152515.4(CKAP2L):c.157_485del329 (p.Thr53Tyrfs) http://identifiers.org/clinvar/162469 ^@ NM_021949.3(ATP2B3):c.1273_1278delCTGGTC (p.Leu425_Val426del) http://identifiers.org/clinvar/162522 ^@ NM_172362.2(KCNH1):c.1508A>G (p.Gln503Arg) http://identifiers.org/clinvar/165092 ^@ NM_001035.2(RYR2):c.3735G>A (p.Arg1245=) http://identifiers.org/clinvar/165179 ^@ NM_003000.2(SDHB):c.300T>C (p.Ser100=) http://identifiers.org/clinvar/165799 ^@ NM_001256850.1(TTN):c.77015G>A (p.Gly25672Glu) http://identifiers.org/clinvar/166476 ^@ NM_206933.2(USH2A):c.6924A>G (p.Ala2308=) http://identifiers.org/clinvar/165907 ^@ NM_133378.4(TTN):c.55759C>T (p.Arg18587Cys) http://identifiers.org/clinvar/166105 ^@ NM_133378.4(TTN):c.30064C>T (p.Pro10022Ser) http://identifiers.org/clinvar/166239 ^@ NM_133432.3(TTN):c.11389A>G (p.Met3797Val) http://identifiers.org/clinvar/166349 ^@ NM_133378.4(TTN):c.1429A>T (p.Thr477Ser) http://identifiers.org/clinvar/164864 ^@ NM_194248.2(OTOF):c.2374C>T (p.Arg792Trp) http://identifiers.org/clinvar/166289 ^@ NM_133432.3(TTN):c.10240C>G (p.Pro3414Ala) http://identifiers.org/clinvar/163157 ^@ NM_001369.2(DNAH5):c.1672A>G (p.Thr558Ala) http://identifiers.org/clinvar/165983 ^@ NM_133378.4(TTN):c.46013A>G (p.Lys15338Arg) http://identifiers.org/clinvar/163107 ^@ NM_001277115.1(DNAH11):c.6274-13T>G http://identifiers.org/clinvar/198443 ^@ NM_001023570.3(IQCB1):c.545C>A (p.Ser182Tyr) http://identifiers.org/clinvar/198495 ^@ NM_003494.3(DYSF):c.701G>A (p.Gly234Glu) http://identifiers.org/clinvar/198548 ^@ NM_006790.2(MYOT):c.1008G>T (p.Val336=) http://identifiers.org/clinvar/198600 ^@ NM_001015877.1(PHF6):c.688A>G (p.Ile230Val) http://identifiers.org/clinvar/198651 ^@ NM_001277115.1(DNAH11):c.11691-19delAinsTG http://identifiers.org/clinvar/198702 ^@ NM_000271.4(NPC1):c.1142G>A (p.Trp381Ter) http://identifiers.org/clinvar/198757 ^@ NM_001005741.2(GBA):c.896T>C (p.Ile299Thr) http://identifiers.org/clinvar/201213 ^@ NM_001035.2(RYR2):c.1250G>T (p.Arg417Leu) http://identifiers.org/clinvar/201160 ^@ NM_001035.2(RYR2):c.1319C>T (p.Ala440Val) http://identifiers.org/clinvar/201383 ^@ NM_001035.2(RYR2):c.5096G>A (p.Arg1699His) http://identifiers.org/clinvar/201270 ^@ NM_001035.2(RYR2):c.6940G>A (p.Glu2314Lys) http://identifiers.org/clinvar/201324 ^@ NM_001035.2(RYR2):c.12268C>T (p.Pro4090Ser) http://identifiers.org/clinvar/201493 ^@ NM_198056.2(SCN5A):c.3394C>T (p.Pro1132Ser) http://identifiers.org/clinvar/201551 ^@ NM_198056.2(SCN5A):c.2963G>A (p.Arg988Gln) http://identifiers.org/clinvar/201438 ^@ NM_198056.2(SCN5A):c.664C>T (p.Arg222Ter) http://identifiers.org/clinvar/200243 ^@ NM_000238.3(KCNH2):c.2398+234C>T http://identifiers.org/clinvar/200376 ^@ NM_000238.3(KCNH2):c.1946-1G>A http://identifiers.org/clinvar/201094 ^@ NM_002474.2(MYH11):c.94G>A (p.Ala32Thr) http://identifiers.org/clinvar/201940 ^@ NM_144573.3(NEXN):c.1419_1421delAAG (p.Arg475del) http://identifiers.org/clinvar/201722 ^@ NM_001927.3(DES):c.634C>T (p.Arg212Ter) http://identifiers.org/clinvar/202053 ^@ NM_001134363.2(RBM20):c.613C>A (p.Gln205Lys) http://identifiers.org/clinvar/201883 ^@ NM_032578.3(MYPN):c.1105G>A (p.Asp369Asn) http://identifiers.org/clinvar/201666 ^@ NM_014391.2(ANKRD1):c.697G>C (p.Glu233Gln) http://identifiers.org/clinvar/201611 ^@ NM_020297.3(ABCC9):c.2826T>C (p.Tyr942=) http://identifiers.org/clinvar/201996 ^@ NM_004572.3(PKP2):c.1832T>G (p.Leu611Arg) http://identifiers.org/clinvar/202111 ^@ NM_003673.3(TCAP):c.223G>A (p.Gly75Ser) http://identifiers.org/clinvar/201832 ^@ NM_002230.2(JUP):c.849G>T (p.Lys283Asn) http://identifiers.org/clinvar/201776 ^@ NM_000117.2(EMD):c.610C>T (p.Arg204Cys) http://identifiers.org/clinvar/202170 ^@ NM_172107.3(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro) http://identifiers.org/clinvar/202220 ^@ NC_000013.10:g.(?_71136977)_(71585455_?)dup http://identifiers.org/clinvar/232982 ^@ NM_000038.5(APC):c.5162G>A (p.Gly1721Asp) http://identifiers.org/clinvar/230342 ^@ NM_000038.5(APC):c.6006T>G (p.Pro2002=) http://identifiers.org/clinvar/232381 ^@ NM_000038.5(APC):c.6549T>G (p.Ser2183=) http://identifiers.org/clinvar/232431 ^@ NM_000038.5(APC):c.6576A>G (p.Lys2192=) http://identifiers.org/clinvar/232782 ^@ NM_005732.3(RAD50):c.1444A>G (p.Ile482Val) http://identifiers.org/clinvar/230492 ^@ NM_000535.6(PMS2):c.2560G>C (p.Ala854Pro) http://identifiers.org/clinvar/230192 ^@ NM_000535.6(PMS2):c.2177C>T (p.Pro726Leu) http://identifiers.org/clinvar/231881 ^@ NM_000535.6(PMS2):c.611A>G (p.Asn204Ser) http://identifiers.org/clinvar/232682 ^@ NM_000535.6(PMS2):c.417C>T (p.His139=) http://identifiers.org/clinvar/233032 ^@ NM_000535.6(PMS2):c.340C>T (p.Leu114Phe) http://identifiers.org/clinvar/232732 ^@ NM_000535.6(PMS2):c.131A>T (p.Glu44Val) http://identifiers.org/clinvar/230042 ^@ NM_002485.4(NBN):c.1448T>C (p.Ile483Thr) http://identifiers.org/clinvar/232932 ^@ NM_000314.6(PTEN):c.253+1dupG http://identifiers.org/clinvar/232281 ^@ NM_000051.3(ATM):c.233C>G (p.Ala78Gly) http://identifiers.org/clinvar/229942 ^@ NM_000051.3(ATM):c.5549delT (p.Leu1850Tyrfs) http://identifiers.org/clinvar/232481 ^@ NM_000051.3(ATM):c.7502A>G (p.Asn2501Ser) http://identifiers.org/clinvar/231931 ^@ NM_005591.3(MRE11):c.1475C>T (p.Ala492Val) http://identifiers.org/clinvar/230842 ^@ NM_005591.3(MRE11):c.444A>G (p.Gly148=) http://identifiers.org/clinvar/231831 ^@ NM_000059.3(BRCA2):c.250C>G (p.Gln84Glu) http://identifiers.org/clinvar/230992 ^@ NM_000059.3(BRCA2):c.4796A>G (p.Asn1599Ser) http://identifiers.org/clinvar/231981 ^@ NM_000059.3(BRCA2):c.6119T>C (p.Ile2040Thr) http://identifiers.org/clinvar/230292 ^@ NM_000059.3(BRCA2):c.8430T>G (p.Ser2810Arg) http://identifiers.org/clinvar/230242 ^@ NM_000059.3(BRCA2):c.9639C>T (p.Asn3213=) http://identifiers.org/clinvar/231042 ^@ NM_000548.4(TSC2):c.1746C>T (p.His582=) http://identifiers.org/clinvar/232632 ^@ NM_024675.3(PALB2):c.1139G>C (p.Ser380Thr) http://identifiers.org/clinvar/230592 ^@ NM_024675.3(PALB2):c.1052C>A (p.Thr351Lys) http://identifiers.org/clinvar/231781 ^@ NM_024675.3(PALB2):c.902A>G (p.Asp301Gly) http://identifiers.org/clinvar/231731 ^@ NM_024675.3(PALB2):c.745_749delCCTTT (p.Pro249Thrfs) http://identifiers.org/clinvar/232531 ^@ NM_024675.3(PALB2):c.578C>T (p.Thr193Ile) http://identifiers.org/clinvar/232582 ^@ NM_024675.3(PALB2):c.338C>G (p.Pro113Arg) http://identifiers.org/clinvar/232081 ^@ NM_001042492.2(NF1):c.3653A>G (p.Gln1218Arg) http://identifiers.org/clinvar/230792 ^@ NM_001042492.2(NF1):c.4446A>G (p.Ile1482Met) http://identifiers.org/clinvar/229892 ^@ NM_001042492.2(NF1):c.6649A>G (p.Met2217Val) http://identifiers.org/clinvar/233082 ^@ NM_001042492.2(NF1):c.8179T>C (p.Tyr2727His) http://identifiers.org/clinvar/229842 ^@ NM_002878.3(RAD51D):c.673G>A (p.Ala225Thr) http://identifiers.org/clinvar/232882 ^@ NM_007294.3(BRCA1):c.3030T>G (p.Pro1010=) http://identifiers.org/clinvar/229792 ^@ NM_058216.2(RAD51C):c.265G>A (p.Glu89Lys) http://identifiers.org/clinvar/230092 ^@ NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) http://identifiers.org/clinvar/230392 ^@ NM_032043.2(BRIP1):c.3267T>C (p.Ser1089=) http://identifiers.org/clinvar/232832 ^@ NM_032043.2(BRIP1):c.2255A>G (p.Lys752Arg) http://identifiers.org/clinvar/230642 ^@ NM_032043.2(BRIP1):c.595C>T (p.Leu199=) http://identifiers.org/clinvar/230442 ^@ NM_005359.5(SMAD4):c.23A>G (p.Asn8Ser) http://identifiers.org/clinvar/232181 ^@ NM_000455.4(STK11):c.501G>A (p.Leu167=) http://identifiers.org/clinvar/230142 ^@ NM_007194.3(CHEK2):c.686G>T (p.Gly229Val) http://identifiers.org/clinvar/235049 ^@ NM_001134363.2(RBM20):c.533G>C (p.Arg178Pro) http://identifiers.org/clinvar/234999 ^@ NM_004982.3(KCNJ8):c.720G>A (p.Val240=) http://identifiers.org/clinvar/235099 ^@ NM_001145408.1(NONO):c.1171+1G>T http://identifiers.org/clinvar/235236 ^@ NM_000220.4(KCNJ1):c.256A>G (p.Thr86Ala) http://identifiers.org/clinvar/235290 ^@ NM_003849.3(SUCLG1):c.397A>T (p.Ile133Phe) http://identifiers.org/clinvar/235342 ^@ NM_016373.3(WWOX):c.835C>T (p.Arg279Cys) http://identifiers.org/clinvar/235396 ^@ NM_005025.4(SERPINI1):c.77T>C (p.Ile26Thr) http://identifiers.org/clinvar/235451 ^@ NC_012920.1:m.8619C>T http://identifiers.org/clinvar/235503 ^@ NM_001128085.1(ASPA):c.245T>C (p.Met82Thr) http://identifiers.org/clinvar/235556 ^@ NM_022168.3(IFIH1):c.1328A>G (p.Asp443Gly) http://identifiers.org/clinvar/235607 ^@ NM_014363.5(SACS):c.12649A>G (p.Asn4217Asp) http://identifiers.org/clinvar/235659 ^@ NM_001875.4(CPS1):c.3643A>G (p.Ile1215Val) http://identifiers.org/clinvar/235713 ^@ NM_005529.6(HSPG2):c.2869A>C (p.Asn957His) http://identifiers.org/clinvar/235775 ^@ NM_000271.4(NPC1):c.1115G>A (p.Arg372Gln) http://identifiers.org/clinvar/235847 ^@ NM_001111125.2(IQSEC2):c.3097C>T (p.Gln1033Ter) http://identifiers.org/clinvar/236031 ^@ NM_001002295.1(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228Thrfs) http://identifiers.org/clinvar/236081 ^@ NM_000350.2(ABCA4):c.1357-2A>G http://identifiers.org/clinvar/236181 ^@ NM_004621.5(TRPC6):c.419C>A (p.Ala140Glu) http://identifiers.org/clinvar/236269 ^@ NM_007294.3(BRCA1):c.2805dupA (p.Asp936Argfs) http://identifiers.org/clinvar/238667 ^@ NM_001232.3(CASQ2):c.1011A>T (p.Thr337=) http://identifiers.org/clinvar/237114 ^@ NM_000143.3(FH):c.251T>C (p.Val84Ala) http://identifiers.org/clinvar/238717 ^@ NM_001267550.2(TTN):c.20692A>G (p.Ser6898Gly) http://identifiers.org/clinvar/237817 ^@ NM_000465.3(BARD1):c.1285G>A (p.Glu429Lys) http://identifiers.org/clinvar/241971 ^@ NM_152383.4(DIS3L2):c.2124C>T (p.Asp708=) http://identifiers.org/clinvar/237416 ^@ NM_000251.2(MSH2):c.942+2_942+6delTAAAA http://identifiers.org/clinvar/237366 ^@ NM_000251.2(MSH2):c.1352A>G (p.Gln451Arg) http://identifiers.org/clinvar/237216 ^@ NM_000179.2(MSH6):c.957G>C (p.Thr319=) http://identifiers.org/clinvar/237165 ^@ NM_000179.2(MSH6):c.2789A>G (p.Lys930Arg) http://identifiers.org/clinvar/237767 ^@ NM_000388.3(CASR):c.294T>G (p.Phe98Leu) http://identifiers.org/clinvar/241721 ^@ NM_032638.4(GATA2):c.182C>T (p.Ala61Val) http://identifiers.org/clinvar/237316 ^@ NM_000249.3(MLH1):c.1652A>G (p.Asn551Ser) http://identifiers.org/clinvar/238217 ^@ NM_001031717.3(CRELD1):c.383C>G (p.Pro128Arg) http://identifiers.org/clinvar/237266 ^@ NM_000222.2(KIT):c.2621C>T (p.Pro874Leu) http://identifiers.org/clinvar/262959 ^@ NM_178497.3(C4orf26):c.89C>T (p.Pro30Leu) http://identifiers.org/clinvar/261820 ^@ NM_025074.6(FRAS1):c.9252G>T (p.Arg3084=) http://identifiers.org/clinvar/262070 ^@ NM_032446.2(MEGF10):c.218+17C>G http://identifiers.org/clinvar/255131 ^@ NM_000112.3(SLC26A2):c.1761C>T (p.Leu587=) http://identifiers.org/clinvar/263059 ^@ NM_182925.4(FLT4):c.4005C>T (p.Ser1335=) http://identifiers.org/clinvar/261670 ^@ NM_023073.3(C5orf42):c.3447A>G (p.Pro1149=) http://identifiers.org/clinvar/257370 ^@ NM_001080479.2(ARHGEF28):c.4054G>A (p.Val1352Ile) http://identifiers.org/clinvar/256081 ^@ NM_000426.3(LAMA2):c.6702A>T (p.Ala2234=) http://identifiers.org/clinvar/262170 ^@ NM_033071.3(SYNE1):c.16498-25C>T http://identifiers.org/clinvar/261120 ^@ NM_019105.6(TNXB):c.12164A>T (p.Asn4055Ile) http://identifiers.org/clinvar/261170 ^@ NM_019105.6(TNXB):c.8595C>T (p.Pro2865=) http://identifiers.org/clinvar/257570 ^@ NM_001145717.1(PNPLA1):c.1469C>T (p.Thr490Met) http://identifiers.org/clinvar/257270 ^@ NM_001040167.1(LFNG):c.822-38C>T http://identifiers.org/clinvar/255431 ^@ NM_000168.5(GLI3):c.2432-30C>T http://identifiers.org/clinvar/261970 ^@ NM_031443.3(CCM2):c.351G>A (p.Ala117=) http://identifiers.org/clinvar/260920 ^@ NM_017802.3(DNAAF5):c.1024+13G>A http://identifiers.org/clinvar/261320 ^@ NM_020476.2(ANK1):c.612+18G>C http://identifiers.org/clinvar/262020 ^@ NM_032237.4(POMK):c.114C>T (p.Leu38=) http://identifiers.org/clinvar/255081 ^@ NM_000093.4(COL5A1):c.3528+46G>C http://identifiers.org/clinvar/257520 ^@ NM_001128227.2(GNE):c.-10G>A http://identifiers.org/clinvar/255681 ^@ NM_000264.3(PTCH1):c.3141T>G (p.Leu1047=) http://identifiers.org/clinvar/262859 ^@ NM_173551.4(ANKS6):c.937G>A (p.Asp313Asn) http://identifiers.org/clinvar/260470 ^@ NM_014915.2(ANKRD26):c.4542T>A (p.Phe1514Leu) http://identifiers.org/clinvar/262120 ^@ NM_032844.4(MASTL):c.2264-9C>T http://identifiers.org/clinvar/255931 ^@ NM_000352.4(ABCC8):c.3557+20G>C http://identifiers.org/clinvar/255531 ^@ NM_000207.2(INS):c.*9C>T http://identifiers.org/clinvar/263309 ^@ NM_213599.2(ANO5):c.1181-21T>A http://identifiers.org/clinvar/261420 ^@ NM_021625.4(TRPV4):c.670A>C (p.Arg224=) http://identifiers.org/clinvar/261470 ^@ NM_021957.3(GYS2):c.304-17T>C http://identifiers.org/clinvar/261070 ^@ NM_018979.3(WNK1):c.3166A>C (p.Thr1056Pro) http://identifiers.org/clinvar/261620 ^@ NM_022489.3(INF2):c.3404C>T (p.Thr1135Met) http://identifiers.org/clinvar/255631 ^@ NM_000257.3(MYH7):c.4953+17G>A http://identifiers.org/clinvar/261020 ^@ NM_018139.2(DNAAF2):c.561C>T (p.Thr187=) http://identifiers.org/clinvar/257120 ^@ NM_001024858.2(SPTB):c.4563+12G>C http://identifiers.org/clinvar/261920 ^@ NM_030621.4(DICER1):c.2997T>G (p.Leu999=) http://identifiers.org/clinvar/255731 ^@ NM_000275.2(OCA2):c.796C>T (p.Arg266Trp) http://identifiers.org/clinvar/333915 ^@ NM_015040.3(PIKFYVE):c.3354A>G (p.Gly1118=) http://identifiers.org/clinvar/336056 ^@ NM_022436.2(ABCG5):c.39G>T (p.Met13Ile) http://identifiers.org/clinvar/337063 ^@ NM_004082.4(DCTN1):c.*122A>C http://identifiers.org/clinvar/334166 ^@ NM_000384.2(APOB):c.2728G>T (p.Gly910Cys) http://identifiers.org/clinvar/336463 ^@ NM_000233.3(LHCGR):c.811G>A (p.Ala271Thr) http://identifiers.org/clinvar/334217 ^@ NM_173076.2(ABCA12):c.*310A>G http://identifiers.org/clinvar/337463 ^@ NM_017849.3(TMEM127):c.*2300G>A http://identifiers.org/clinvar/334367 ^@ NM_000784.3(CYP27A1):c.526delG (p.Asp176Metfs) http://identifiers.org/clinvar/337513 ^@ NM_017849.3(TMEM127):c.-220T>C http://identifiers.org/clinvar/334417 ^@ NM_025216.2(WNT10A):c.*108G>A http://identifiers.org/clinvar/334016 ^@ NM_001875.4(CPS1):c.783C>T (p.Ile261=) http://identifiers.org/clinvar/337563 ^@ NM_014014.4(SNRNP200):c.651C>T (p.Tyr217=) http://identifiers.org/clinvar/334317 ^@ NM_015488.4(PNKD):c.466-3C>A http://identifiers.org/clinvar/334567 ^@ NM_181457.3(PAX3):c.-359G>T http://identifiers.org/clinvar/334617 ^@ NM_003590.4(CUL3):c.*1245_*1249delTATTT http://identifiers.org/clinvar/337113 ^@ NM_006302.2(MOGS):c.255C>T (p.Ser85=) http://identifiers.org/clinvar/334767 ^@ NM_000091.4(COL4A3):c.2489-8G>A http://identifiers.org/clinvar/337213 ^@ NM_000821.6(GGCX):c.*2822C>T http://identifiers.org/clinvar/334917 ^@ NM_004509.3(SP110):c.383C>T (p.Ala128Val) http://identifiers.org/clinvar/334667 ^@ NM_000092.4(COL4A4):c.*2311C>T http://identifiers.org/clinvar/335017 ^@ NM_005199.4(CHRNG):c.*77T>C http://identifiers.org/clinvar/335117 ^@ NM_004369.3(COL6A3):c.5778G>A (p.Thr1926=) http://identifiers.org/clinvar/335167 ^@ NM_004544.3(NDUFA10):c.*2397A>G http://identifiers.org/clinvar/334817 ^@ NM_000091.4(COL4A3):c.*2059C>G http://identifiers.org/clinvar/334967 ^@ NM_000751.2(CHRND):c.651G>A (p.Pro217=) http://identifiers.org/clinvar/335956 ^@ NM_000104.3(CYP1B1):c.-1-10C>T http://identifiers.org/clinvar/336006 ^@ NM_005633.3(SOS1):c.*696G>A http://identifiers.org/clinvar/336156 ^@ NM_133259.3(LRPPRC):c.2118A>G (p.Glu706=) http://identifiers.org/clinvar/350522 ^@ NM_001182.4(ALDH7A1):c.*2996_*2997dupTT http://identifiers.org/clinvar/350572 ^@ NM_001182.4(ALDH7A1):c.*726C>T http://identifiers.org/clinvar/350622 ^@ NM_005573.3(LMNB1):c.*43T>C http://identifiers.org/clinvar/350772 ^@ NM_001999.3(FBN2):c.4824C>T (p.Cys1608=) http://identifiers.org/clinvar/350672 ^@ NM_032446.2(MEGF10):c.*13G>A http://identifiers.org/clinvar/357898 ^@ NM_012434.4(SLC17A5):c.*1630G>T http://identifiers.org/clinvar/358048 ^@ NM_004999.3(MYO6):c.*3834G>A http://identifiers.org/clinvar/358198 ^@ NM_183050.3(BCKDHB):c.*1142C>G http://identifiers.org/clinvar/358248 ^@ NM_014165.3(NDUFAF4):c.*1447T>C http://identifiers.org/clinvar/355709 ^@ NM_203395.2(IYD):c.*1129A>C http://identifiers.org/clinvar/358798 ^@ NM_006193.2(PAX4):c.748-3dupT http://identifiers.org/clinvar/355859 ^@ NM_033071.3(SYNE1):c.15916A>C (p.Met5306Leu) http://identifiers.org/clinvar/355959 ^@ NM_032122.4(DTNBP1):c.*138A>G http://identifiers.org/clinvar/356059 ^@ NM_198586.2(NHLRC1):c.*797A>G http://identifiers.org/clinvar/356209 ^@ NM_000410.3(HFE):c.*991C>T http://identifiers.org/clinvar/356309 ^@ NM_006929.4(SKIV2L):c.-14G>A http://identifiers.org/clinvar/352209 ^@ NM_001135243.1(TCOF1):c.1598C>T (p.Thr533Ile) http://identifiers.org/clinvar/352509 ^@ NM_001099287.1(NIPAL4):c.446C>T (p.Thr149Met) http://identifiers.org/clinvar/352259 ^@ NM_000405.4(GM2A):c.*227A>G http://identifiers.org/clinvar/356609 ^@ NM_005943.5(MOCS1):c.*1904A>C http://identifiers.org/clinvar/356759 ^@ NM_000322.4(PRPH2):c.*898C>A http://identifiers.org/clinvar/352709 ^@ NM_012188.4(FOXI1):c.965_967delTCT (p.Phe322del) http://identifiers.org/clinvar/352559 ^@ NM_002187.2(IL12B):c.*901delA http://identifiers.org/clinvar/352759 ^@ NM_001017995.2(SH3PXD2B):c.*2543A>G http://identifiers.org/clinvar/352809 ^@ NM_001017995.2(SH3PXD2B):c.1554G>A (p.Glu518=) http://identifiers.org/clinvar/352909 ^@ NM_022455.4(NSD1):c.*1597G>A http://identifiers.org/clinvar/360487 ^@ NM_005228.4(EGFR):c.*1387A>G http://identifiers.org/clinvar/360637 ^@ NM_000501.3(ELN):c.366A>G (p.Gly122=) http://identifiers.org/clinvar/360687 ^@ NM_000941.2(POR):c.-33G>T http://identifiers.org/clinvar/360937 ^@ NM_000089.3(COL1A2):c.-428G>A http://identifiers.org/clinvar/357598 ^@ NM_001723.5(DST):c.2769G>A (p.Thr923=) http://identifiers.org/clinvar/361287 ^@ NM_178857.5(RP1L1):c.4062G>A (p.Ala1354=) http://identifiers.org/clinvar/357798 ^@ NM_001851.4(COL9A1):c.2676G>A (p.Pro892=) http://identifiers.org/clinvar/299939 ^@ NM_020975.4(RET):c.*1644G>C http://identifiers.org/clinvar/300089 ^@ NM_000124.3(ERCC6):c.1146G>A (p.Glu382=) http://identifiers.org/clinvar/300139 ^@ NM_000242.2(MBL2):c.*865A>C http://identifiers.org/clinvar/361037 ^@ NM_017890.4(VPS13B):c.406C>T (p.Pro136Ser) http://identifiers.org/clinvar/307532 ^@ NM_001414.3(EIF2B1):c.-91C>T http://identifiers.org/clinvar/307782 ^@ NM_006205.2(PDE6H):c.195A>G (p.Pro65=) http://identifiers.org/clinvar/307882 ^@ NM_019844.3(SLCO1B3):c.-180-7T>G http://identifiers.org/clinvar/307932 ^@ NM_006446.4(SLCO1B1):c.184T>C (p.Ser62Pro) http://identifiers.org/clinvar/308032 ^@ NM_005691.3(ABCC9):c.4316-14T>G http://identifiers.org/clinvar/308082 ^@ NM_004985.4(KRAS):c.*2888A>G http://identifiers.org/clinvar/365175 ^@ NM_001130438.2(SPTAN1):c.6081C>T (p.Asp2027=) http://identifiers.org/clinvar/301178 ^@ NM_000429.2(MAT1A):c.*414C>G http://identifiers.org/clinvar/365225 ^@ NM_000113.2(TOR1A):c.*414G>T http://identifiers.org/clinvar/308182 ^@ NM_000719.6(CACNA1C):c.*1109dupT http://identifiers.org/clinvar/308282 ^@ NM_139241.3(FGD4):c.-246+9C>T http://identifiers.org/clinvar/308382 ^@ NM_139241.3(FGD4):c.*5484T>C http://identifiers.org/clinvar/301278 ^@ NM_033100.3(CDHR1):c.*869T>G http://identifiers.org/clinvar/308532 ^@ NM_017641.3(KIF21A):c.*707A>G http://identifiers.org/clinvar/308682 ^@ NM_153026.2(PRICKLE1):c.*1292T>C http://identifiers.org/clinvar/301378 ^@ NM_005271.4(GLUD1):c.*1252T>C http://identifiers.org/clinvar/301428 ^@ NM_000314.6(PTEN):c.*282G>A http://identifiers.org/clinvar/365575 ^@ NM_014694.3(ADAMTSL2):c.325G>A (p.Gly109Arg) http://identifiers.org/clinvar/308732 ^@ NM_016123.3(IRAK4):c.1282G>A (p.Ala428Thr) http://identifiers.org/clinvar/301478 ^@ NM_000314.6(PTEN):c.*2027A>C http://identifiers.org/clinvar/301578 ^@ NM_000235.3(LIPA):c.676-14T>A http://identifiers.org/clinvar/365775 ^@ NM_000093.4(COL5A1):c.*1642G>A http://identifiers.org/clinvar/365425 ^@ NM_000368.4(TSC1):c.*3240G>T http://identifiers.org/clinvar/365926 ^@ NM_006412.3(AGPAT2):c.476G>T (p.Arg159Leu) http://identifiers.org/clinvar/365525 ^@ NM_000368.4(TSC1):c.-227G>A http://identifiers.org/clinvar/309332 ^@ NM_002234.3(KCNA5):c.92G>T (p.Gly31Val) http://identifiers.org/clinvar/365625 ^@ NM_014694.3(ADAMTSL2):c.*595G>A http://identifiers.org/clinvar/298439 ^@ NM_000392.4(ABCC2):c.57G>A (p.Pro19=) http://identifiers.org/clinvar/366026 ^@ NM_024757.4(EHMT1):c.3123C>G (p.Val1041=) http://identifiers.org/clinvar/366076 ^@ NM_144966.5(FREM1):c.*1376G>T http://identifiers.org/clinvar/301978 ^@ NM_002427.3(MMP13):c.1082A>G (p.Asp361Gly) http://identifiers.org/clinvar/366176 ^@ NM_144966.5(FREM1):c.100G>T (p.Val34Leu) http://identifiers.org/clinvar/365825 ^@ NM_014564.4(LHX3):c.-66G>A http://identifiers.org/clinvar/366376 ^@ NM_003383.4(VLDLR):c.*48C>T http://identifiers.org/clinvar/365976 ^@ NM_016219.4(MAN1B1):c.1956T>C (p.Pro652=) http://identifiers.org/clinvar/366226 ^@ NM_203447.3(DOCK8):c.-58C>T http://identifiers.org/clinvar/310571 ^@ NM_020661.3(AICDA):c.*554T>C http://identifiers.org/clinvar/310776 ^@ NM_003276.2(TMPO):c.*157A>T http://identifiers.org/clinvar/310876 ^@ NM_004115.3(FGF14):c.*974G>A http://identifiers.org/clinvar/310976 ^@ NM_002312.3(LIG4):c.2518A>G (p.Ile840Val) http://identifiers.org/clinvar/312765 ^@ NM_001145.4(ANG):c.-401G>T http://identifiers.org/clinvar/312915 ^@ NM_000257.3(MYH7):c.1138+7G>A http://identifiers.org/clinvar/312965 ^@ NM_001099274.1(TINF2):c.-260G>C http://identifiers.org/clinvar/313065 ^@ NM_025152.2(NUBPL):c.*1609G>A http://identifiers.org/clinvar/313365 ^@ NM_000161.2(GCH1):c.*1283A>C http://identifiers.org/clinvar/315304 ^@ NM_139057.3(ADAMTS17):c.1017C>T (p.Ala339=) http://identifiers.org/clinvar/313465 ^@ NM_005982.3(SIX1):c.578A>T (p.Asn193Ile) http://identifiers.org/clinvar/341743 ^@ NM_022098.3(XPNPEP3):c.*4260T>A http://identifiers.org/clinvar/313665 ^@ NM_182914.2(SYNE2):c.20462G>A (p.Arg6821Gln) http://identifiers.org/clinvar/323439 ^@ NM_025237.2(SOST):c.328G>A (p.Gly110Ser) http://identifiers.org/clinvar/323489 ^@ NM_000342.3(SLC4A1):c.*977G>A http://identifiers.org/clinvar/315754 ^@ NM_152594.2(SPRED1):c.*1724A>C http://identifiers.org/clinvar/323539 ^@ NM_002087.3(GRN):c.*280G>A http://identifiers.org/clinvar/315804 ^@ NM_002225.3(IVD):c.*123G>A http://identifiers.org/clinvar/313915 ^@ NM_015346.3(ZFYVE26):c.2105G>A (p.Arg702His) http://identifiers.org/clinvar/316054 ^@ NM_201631.3(TGM5):c.897C>G (p.Ile299Met) http://identifiers.org/clinvar/316154 ^@ NM_014080.4(DUOX2):c.3232G>A (p.Val1078Met) http://identifiers.org/clinvar/324089 ^@ NM_000088.3(COL1A1):c.*242_*244dupAAA http://identifiers.org/clinvar/368454 ^@ NM_003179.2(SYP):c.*1239G>A http://identifiers.org/clinvar/368554 ^@ NM_006306.3(SMC1A):c.*4443G>A http://identifiers.org/clinvar/324296 ^@ NM_032043.2(BRIP1):c.*3450T>C http://identifiers.org/clinvar/324398 ^@ NM_000789.3(ACE):c.2570G>A (p.Arg857His) http://identifiers.org/clinvar/324648 ^@ NM_004655.3(AXIN2):c.1347C>T (p.Thr449=) http://identifiers.org/clinvar/315554 ^@ NM_133647.1(SLC12A6):c.*3162T>G http://identifiers.org/clinvar/315154 ^@ NM_139057.3(ADAMTS17):c.*2283A>G http://identifiers.org/clinvar/325337 ^@ NM_004035.6(ACOX1):c.*2212delA http://identifiers.org/clinvar/325387 ^@ NM_004035.6(ACOX1):c.659-4G>A http://identifiers.org/clinvar/315904 ^@ NM_000070.2(CAPN3):c.*482_*485dupCTCA http://identifiers.org/clinvar/317744 ^@ NM_000246.3(CIITA):c.*690C>T http://identifiers.org/clinvar/325637 ^@ NM_000546.5(TP53):c.*485G>A http://identifiers.org/clinvar/325587 ^@ NM_006640.4(SEPT9):c.*417C>T http://identifiers.org/clinvar/317844 ^@ NM_005236.2(ERCC4):c.*1463C>T http://identifiers.org/clinvar/318146 ^@ NM_001143979.1(NDE1):c.*1571A>G http://identifiers.org/clinvar/371809 ^@ NM_000038.5(APC):c.5952_5955delTGAA (p.Glu1985Leufs) http://identifiers.org/clinvar/372059 ^@ NM_006231.3(POLE):c.3379-18C>T http://identifiers.org/clinvar/372009 ^@ NM_006231.3(POLE):c.1360-20C>G http://identifiers.org/clinvar/371959 ^@ NM_004360.4(CDH1):c.832+17G>A http://identifiers.org/clinvar/372109 ^@ NM_006412.3(AGPAT2):c.538delG (p.Asp180ThrfsTer73) http://identifiers.org/clinvar/372182 ^@ NM_003321.4(TUFM):c.440T>A (p.Leu147His) http://identifiers.org/clinvar/372239 ^@ NM_138773.3(SLC25A46):c.1005A>T (p.Glu335Asp) http://identifiers.org/clinvar/372292 ^@ NM_000350.2(ABCA4):c.6816+1G>A http://identifiers.org/clinvar/372656 ^@ NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp) http://identifiers.org/clinvar/372345 ^@ NM_000094.3(COL7A1):c.6527dupC (p.Gly2177Trpfs) http://identifiers.org/clinvar/372503 ^@ NM_003023.4(SH3BP2):c.1258G>A (p.Gly420Arg) http://identifiers.org/clinvar/372709 ^@ NM_000445.4(PLEC):c.7612C>T (p.Gln2538Ter) http://identifiers.org/clinvar/373804 ^@ NM_023110.2(FGFR1):c.1990G>A (p.Val664Met) http://identifiers.org/clinvar/373754 ^@ NM_002693.2(POLG):c.176C>T (p.Pro59Leu) http://identifiers.org/clinvar/372396 ^@ NM_198525.2(KIF7):c.1709G>A (p.Gly570Asp) http://identifiers.org/clinvar/372809 ^@ NM_205850.2(SLC24A5):c.546T>A (p.Ser182Arg) http://identifiers.org/clinvar/372605 ^@ NM_002755.3(MAP2K1):c.871A>G (p.Arg291Gly) http://identifiers.org/clinvar/372759 ^@ NM_002474.2(MYH11):c.4578+1G>A http://identifiers.org/clinvar/372450 ^@ NM_000444.5(PHEX):c.426C>A (p.Cys142Ter) http://identifiers.org/clinvar/372555 ^@ NM_004208.3(AIFM1):c.1597G>A (p.Glu533Lys) http://identifiers.org/clinvar/374207 ^@ NM_005902.3(SMAD3):c.281G>T (p.Trp94Leu) http://identifiers.org/clinvar/374157 ^@ NM_001166111.1(PNPLA6):c.925C>G (p.Pro309Ala) http://identifiers.org/clinvar/374331 ^@ NM_001165963.1(SCN1A):c.1709G>A (p.Ser570Asn) http://identifiers.org/clinvar/374396 ^@ NM_003108.3(SOX11):c.1286G>A (p.Trp429Ter) http://identifiers.org/clinvar/374261 ^@ NM_001170629.1(CHD8):c.6518C>A (p.Ser2173Ter) http://identifiers.org/clinvar/374449 ^@ NM_004563.3(PCK2):c.68C>G (p.Ser23Ter) http://identifiers.org/clinvar/374499 ^@ NM_198271.4(LMOD3):c.1004A>G (p.Gln335Arg) http://identifiers.org/clinvar/374549 ^@ NM_024408.3(NOTCH2):c.390G>A (p.Glu130=) http://identifiers.org/clinvar/374599 ^@ NM_032409.2(PINK1):c.770C>T (p.Thr257Ile) http://identifiers.org/clinvar/374649 ^@ NM_000540.2(RYR1):c.1855C>G (p.Leu619Val) http://identifiers.org/clinvar/374699 ^@ NM_001166686.1(PFKM):c.2206-7_2206-4delTCTC http://identifiers.org/clinvar/374749 ^@ NM_001242897.1(DEPDC5):c.413+7A>G http://identifiers.org/clinvar/374809 ^@ NM_000141.4(FGFR2):c.826T>G (p.Phe276Val) http://identifiers.org/clinvar/374859 ^@ NM_005477.2(HCN4):c.1444G>C (p.Gly482Arg) http://identifiers.org/clinvar/374918 ^@ NM_001128608.1(MAPKBP1):c.1631G>A (p.Arg544Gln) http://identifiers.org/clinvar/374976 ^@ NM_001144757.2(SCG5):c.532C>T (p.Arg178Ter) http://identifiers.org/clinvar/375251 ^@ NM_001282225.1(ADA2):c.740C>T (p.Ala247Val) http://identifiers.org/clinvar/375309 ^@ NM_015692.2(CPAMD8):c.4351T>C (p.Ser1451Pro) http://identifiers.org/clinvar/375362 ^@ NM_000520.5(HEXA):c.1349delC (p.Ala450Valfs) http://identifiers.org/clinvar/375475 ^@ NP_000483.3(CFTR):p.Tyr1092Ter http://identifiers.org/clinvar/375536 ^@ NM_000834.3(GRIN2B):c.43G>A (p.Val15Met) http://identifiers.org/clinvar/375600 ^@ NM_015528.2(RNF167):c.833dupG (p.Pro279Serfs) http://identifiers.org/clinvar/375654 ^@ NM_000770.3(CYP2C8):c.1196A>G (p.Lys399Arg) http://identifiers.org/clinvar/375848 ^@ NM_174936.3(PCSK9):c.103G>T (p.Asp35Tyr) http://identifiers.org/clinvar/375798 ^@ NM_000527.4(LDLR):c.710G>A (p.Arg237His) http://identifiers.org/clinvar/375901 ^@ NM_006206.4(PDGFRA):c.1977C>A (p.Asn659Lys) http://identifiers.org/clinvar/391533 ^@ NM_001135659.2(NRXN1):c.159G>A (p.Glu53=) http://identifiers.org/clinvar/385266 ^@ NM_000251.2(MSH2):c.1294T>C (p.Leu432=) http://identifiers.org/clinvar/388794 ^@ NM_000251.2(MSH2):c.2210+19C>A http://identifiers.org/clinvar/386305 ^@ NM_000179.2(MSH6):c.1572C>T (p.Tyr524=) http://identifiers.org/clinvar/385016 ^@ NM_001875.4(CPS1):c.2391+20C>T http://identifiers.org/clinvar/389494 ^@ NM_015662.2(IFT172):c.3711+13A>T http://identifiers.org/clinvar/392383 ^@ NM_001457.3(FLNB):c.1679A>G (p.His560Arg) http://identifiers.org/clinvar/391283 ^@ NM_015141.3(GPD1L):c.618+17G>C http://identifiers.org/clinvar/382813 ^@ NM_001148.4(ANK2):c.2583C>T (p.Tyr861=) http://identifiers.org/clinvar/391583 ^@ NM_013334.3(GMPPB):c.1098C>T (p.Asn366=) http://identifiers.org/clinvar/385216 ^@ NM_013334.3(GMPPB):c.403-6A>G http://identifiers.org/clinvar/387605 ^@ NM_001999.3(FBN2):c.488A>G (p.His163Arg) http://identifiers.org/clinvar/383063 ^@ NM_002887.3(RARS):c.823-20T>A http://identifiers.org/clinvar/390883 ^@ NM_005787.5(ALG3):c.1176C>T (p.Ile392=) http://identifiers.org/clinvar/385116 ^@ NM_000249.3(MLH1):c.116+6G>A http://identifiers.org/clinvar/382613 ^@ NM_001167734.1(VARS2):c.1570-9T>C http://identifiers.org/clinvar/391733 ^@ NM_007255.2(B4GALT7):c.414-20G>A http://identifiers.org/clinvar/387005 ^@ NM_000426.3(LAMA2):c.2430A>C (p.Pro810=) http://identifiers.org/clinvar/388644 ^@ NM_012123.3(MTO1):c.1995A>G (p.Gln665=) http://identifiers.org/clinvar/382963 ^@ NM_002454.2(MTRR):c.1006A>G (p.Lys336Glu) http://identifiers.org/clinvar/377808 ^@ NM_004415.3(DSP):c.2297+14A>C http://identifiers.org/clinvar/384816 ^@ NM_013352.3(DSE):c.844A>G (p.Ile282Val) http://identifiers.org/clinvar/393272 ^@ NM_001851.4(COL9A1):c.1553A>T (p.Asp518Val) http://identifiers.org/clinvar/386755 ^@ NM_004722.3(AP4M1):c.295G>A (p.Glu99Lys) http://identifiers.org/clinvar/385166 ^@ NM_022445.3(TPK1):c.621T>C (p.Asp207=) http://identifiers.org/clinvar/377708 ^@ NM_014141.5(CNTNAP2):c.1632C>T (p.Phe544=) http://identifiers.org/clinvar/382863 ^@ NM_001130438.2(SPTAN1):c.4147-13C>T http://identifiers.org/clinvar/391883 ^@ NM_000089.3(COL1A2):c.2082C>T (p.Gly694=) http://identifiers.org/clinvar/384766 ^@ NM_014251.2(SLC25A13):c.848+9G>T http://identifiers.org/clinvar/383314 ^@ NM_000093.4(COL5A1):c.4692C>A (p.Gly1564=) http://identifiers.org/clinvar/387155 ^@ NM_015214.2(DDHD2):c.2054+13T>C http://identifiers.org/clinvar/387205 ^@ NM_000368.4(TSC1):c.-144+7A>T http://identifiers.org/clinvar/386655 ^@ NM_020822.2(KCNT1):c.1769+8C>A http://identifiers.org/clinvar/133097 ^@ NM_000540.2(RYR1):c.14892C>A (p.Ile4964=) http://identifiers.org/clinvar/133147 ^@ NM_000540.2(RYR1):c.529C>T (p.Arg177Cys) http://identifiers.org/clinvar/133197 ^@ NM_000540.2(RYR1):c.7310C>T (p.Ala2437Val) http://identifiers.org/clinvar/133248 ^@ NM_000277.1:c.1-?_168+?del http://identifiers.org/clinvar/133327 ^@ NM_001029882.3(AHDC1):c.2898delC (p.Tyr967Thrfs) http://identifiers.org/clinvar/133389 ^@ NM_003073.4(SMARCB1):c.500+111C>A http://identifiers.org/clinvar/133439 ^@ NM_007313.2(ABL1):c.2473C>A (p.Pro825Thr) http://identifiers.org/clinvar/133489 ^@ NM_152424.3(AMER1):c.1873A>G (p.Thr625Ala) http://identifiers.org/clinvar/133590 ^@ NM_015338.5(ASXL1):c.4493C>T (p.Thr1498Met) http://identifiers.org/clinvar/133640 ^@ NM_000051.3(ATM):c.659C>T (p.Ala220Val) http://identifiers.org/clinvar/133690 ^@ NM_001123383.1(BCOR):c.4664G>A (p.Arg1555His) http://identifiers.org/clinvar/133742 ^@ NM_000059.3(BRCA2):c.257T>C (p.Leu86Pro) http://identifiers.org/clinvar/133794 ^@ NM_032415.5(CARD11):c.2074G>A (p.Val692Met) http://identifiers.org/clinvar/133844 ^@ NM_004360.4(CDH1):c.24_25delCTinsGC (p.Ser9Pro) http://identifiers.org/clinvar/133894 ^@ NM_015125.4(CIC):c.1909_1911delAAG (p.Lys637del) http://identifiers.org/clinvar/133944 ^@ NM_004380.2(CREBBP):c.2050G>A (p.Ala684Thr) http://identifiers.org/clinvar/133994 ^@ NM_001077706.2(ECT2L):c.1802C>T (p.Ser601Leu) http://identifiers.org/clinvar/134044 ^@ NM_001429.3(EP300):c.3615C>G (p.Phe1205Leu) http://identifiers.org/clinvar/134096 ^@ NM_000400.3(ERCC2):c.1775G>A (p.Arg592His) http://identifiers.org/clinvar/134146 ^@ NM_005236.2(ERCC4):c.938T>C (p.Leu313Pro) http://identifiers.org/clinvar/134196 ^@ NM_000123.3(ERCC5):c.2071G>A (p.Gly691Arg) http://identifiers.org/clinvar/134246 ^@ NM_000135.2(FANCA):c.1861delT (p.Tyr621Thrfs) http://identifiers.org/clinvar/134297 ^@ NM_000136.2(FANCC):c.1394A>G (p.Gln465Arg) http://identifiers.org/clinvar/134348 ^@ NM_022725.3(FANCF):c.385C>G (p.Leu129Val) http://identifiers.org/clinvar/134398 ^@ NM_000142.4(FGFR3):c.169G>A (p.Val57Met) http://identifiers.org/clinvar/134448 ^@ NM_004119.2(FLT3):c.833A>C (p.Asn278Thr) http://identifiers.org/clinvar/134853 ^@ NM_000179.2(MSH6):c.1995G>C (p.Glu665Asp) http://identifiers.org/clinvar/134905 ^@ NM_006164.4(NFE2L2):c.1346G>A (p.Arg449His) http://identifiers.org/clinvar/135188 ^@ NM_020630.4(RET):c.1424G>A (p.Arg475Gln) http://identifiers.org/clinvar/135238 ^@ NM_014159.6(SETD2):c.2713T>C (p.Ser905Pro) http://identifiers.org/clinvar/135289 ^@ NM_001127208.2(TET2):c.5333A>G (p.His1778Arg) http://identifiers.org/clinvar/135339 ^@ NM_006290.3(TNFAIP3):c.1651C>T (p.Leu551Phe) http://identifiers.org/clinvar/135390 ^@ NM_000548.4(TSC2):c.4901G>A (p.Arg1634His) http://identifiers.org/clinvar/136127 ^@ NM_024675.3(PALB2):c.1230T>C (p.Val410=) http://identifiers.org/clinvar/136187 ^@ NM_130838.1(UBE3A):c.99delC (p.Cys34Valfs) http://identifiers.org/clinvar/136238 ^@ NM_000350.2(ABCA4):c.1500G>A (p.Arg500=) http://identifiers.org/clinvar/136289 ^@ NM_001103.3(ACTN2):c.2368-17T>C http://identifiers.org/clinvar/136340 ^@ NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) http://identifiers.org/clinvar/136391 ^@ NM_001148.4(ANK2):c.3893+14G>T http://identifiers.org/clinvar/184340 ^@ NM_007294.3(BRCA1):c.4845T>C (p.Ala1615=) http://identifiers.org/clinvar/186631 ^@ NM_007294.3(BRCA1):c.4380T>C (p.Ser1460=) http://identifiers.org/clinvar/184640 ^@ NM_007294.3(BRCA1):c.3009T>C (p.Phe1003=) http://identifiers.org/clinvar/187531 ^@ NM_007294.3(BRCA1):c.2913T>C (p.His971=) http://identifiers.org/clinvar/187381 ^@ NM_007294.3(BRCA1):c.2630A>G (p.Asn877Ser) http://identifiers.org/clinvar/186881 ^@ NM_007294.3(BRCA1):c.2214dupT (p.Lys739Terfs) http://identifiers.org/clinvar/184840 ^@ NM_007294.3(BRCA1):c.1470A>G (p.Pro490=) http://identifiers.org/clinvar/186529 ^@ NM_058216.2(RAD51C):c.745C>T (p.Arg249Cys) http://identifiers.org/clinvar/185240 ^@ NM_032043.2(BRIP1):c.3260A>G (p.Asn1087Ser) http://identifiers.org/clinvar/185090 ^@ NM_032043.2(BRIP1):c.3096T>G (p.Ser1032Arg) http://identifiers.org/clinvar/187131 ^@ NM_032043.2(BRIP1):c.1336A>C (p.Ile446Leu) http://identifiers.org/clinvar/184190 ^@ NM_000546.5(TP53):c.837G>A (p.Gly279=) http://identifiers.org/clinvar/186179 ^@ NM_000546.5(TP53):c.464C>G (p.Thr155Ser) http://identifiers.org/clinvar/184490 ^@ NM_000455.4(STK11):c.15C>T (p.Asp5=) http://identifiers.org/clinvar/188014 ^@ NM_004409.4(DMPK):c.*224_*226[614] http://identifiers.org/clinvar/188064 ^@ NM_001127500.2(MET):c.3930A>G (p.Ile1310Met) http://identifiers.org/clinvar/189075 ^@ NM_000543.4(SMPD1):c.1430C>T (p.Pro477Leu) http://identifiers.org/clinvar/189175 ^@ NM_014363.5(SACS):c.7276C>T (p.Arg2426Ter) http://identifiers.org/clinvar/189125 ^@ NM_080704.3(TRPV1):c.-34+7395T>C http://identifiers.org/clinvar/189242 ^@ NM_002863.4(PYGL):c.44_45insGAGAAGCGGCGGCAGATCAG (p.Ser15Argfs) http://identifiers.org/clinvar/189294 ^@ NM_004917.4(KLK4):c.245delG (p.Gly82Alafs) http://identifiers.org/clinvar/189356 ^@ NM_014045.4(LRP10):c.754G>A (p.Gly252Ser) http://identifiers.org/clinvar/189512 ^@ NM_000314.6(PTEN):c.-667C>T http://identifiers.org/clinvar/189443 ^@ NM_000314.6(PTEN):c.117delA (p.Glu40Lysfs) http://identifiers.org/clinvar/189615 ^@ NM_005249.4(FOXG1):c.552dupC (p.Ser185Glnfs) http://identifiers.org/clinvar/189715 ^@ NM_004992.3(MECP2):c.711_1269del559 (p.Gly238Trpfs) http://identifiers.org/clinvar/189665 ^@ NM_001110792.1(MECP2):c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA (p.Pro401Ter) http://identifiers.org/clinvar/189765 ^@ NM_001110792.1(MECP2):c.23_27dupCGCCG (p.Ser10Argfs) http://identifiers.org/clinvar/189565 ^@ NM_003159.2(CDKL5):c.-162-2A>G http://identifiers.org/clinvar/189849 ^@ NM_001165963.1(SCN1A):c.4879_4883dupAAGTA (p.Tyr1628Terfs) http://identifiers.org/clinvar/189999 ^@ NM_001165963.1(SCN1A):c.2929G>A (p.Val977Met) http://identifiers.org/clinvar/189949 ^@ NM_001165963.1(SCN1A):c.2615C>A (p.Ser872Tyr) http://identifiers.org/clinvar/189899 ^@ NM_001165963.1(SCN1A):c.308G>T (p.Ser103Ile) http://identifiers.org/clinvar/190120 ^@ NM_002143.2(HPCA):c.568G>A (p.Ala190Thr) http://identifiers.org/clinvar/190184 ^@ NM_001110556.1(FLNA):c.1829-2A>G http://identifiers.org/clinvar/190235 ^@ NM_005360.4(MAF):c.895C>A (p.Arg299Ser) http://identifiers.org/clinvar/190316 ^@ NM_153816.5(SNX14):c.645dupA (p.Glu216Argfs) http://identifiers.org/clinvar/190368 ^@ NM_002055.4(GFAP):c.619-3C>G (p.Glu207_Lys260del) http://identifiers.org/clinvar/227951 ^@ NM_000441.1(SLC26A4):c.1947C>T (p.Asn649=) http://identifiers.org/clinvar/226608 ^@ NM_012144.3(DNAI1):c.297A>G (p.Gln99=) http://identifiers.org/clinvar/227008 ^@ NM_033056.3(PCDH15):c.4368-13_4368-10dupCTTT http://identifiers.org/clinvar/228001 ^@ NM_005422.2(TECTA):c.5766A>G (p.Thr1922=) http://identifiers.org/clinvar/226858 ^@ NM_001277269.1(OTOG):c.1032+9C>A http://identifiers.org/clinvar/226908 ^@ NM_001277269.1(OTOG):c.7436G>A (p.Arg2479His) http://identifiers.org/clinvar/227800 ^@ NM_001277269.1(OTOG):c.7882C>T (p.Leu2628=) http://identifiers.org/clinvar/226458 ^@ NM_213599.2(ANO5):c.800C>G (p.Thr267Ser) http://identifiers.org/clinvar/227159 ^@ NM_005691.3(ABCC9):c.3030T>C (p.Ala1010=) http://identifiers.org/clinvar/227850 ^@ NM_004572.3(PKP2):c.559G>A (p.Ala187Thr) http://identifiers.org/clinvar/227059 ^@ NM_001038.5(SCNN1A):c.540_541delGCinsTT (p.Arg181Trp) http://identifiers.org/clinvar/226958 ^@ NM_173591.3(OTOGL):c.5571C>T (p.Cys1857=) http://identifiers.org/clinvar/229340 ^@ NM_001018005.1(TPM1):c.851+15A>G http://identifiers.org/clinvar/227750 ^@ NM_144672.3(OTOA):c.396C>T (p.Gly132=) http://identifiers.org/clinvar/227650 ^@ NM_016239.3(MYO15A):c.7386C>T (p.Ala2462=) http://identifiers.org/clinvar/227700 ^@ NM_003803.3(MYOM1):c.3308G>A (p.Arg1103Gln) http://identifiers.org/clinvar/226808 ^@ NM_003803.3(MYOM1):c.192G>T (p.Ala64=) http://identifiers.org/clinvar/226508 ^@ NM_001039213.3(CEACAM16):c.508G>A (p.Ala170Thr) http://identifiers.org/clinvar/226658 ^@ NM_022081.5(HPS4):c.1899C>T (p.Val633=) http://identifiers.org/clinvar/228051 ^@ NM_144991.2(TSPEAR):c.306G>A (p.Arg102=) http://identifiers.org/clinvar/234758 ^@ NM_004321.7(KIF1A):c.650C>G (p.Ser217Cys) http://identifiers.org/clinvar/234608 ^@ NM_000535.6(PMS2):c.2435G>T (p.Cys812Phe) http://identifiers.org/clinvar/234658 ^@ NM_000535.6(PMS2):c.7C>T (p.Arg3Ter) http://identifiers.org/clinvar/234859 ^@ NM_138361.5(LRSAM1):c.136T>C (p.Phe46Leu) http://identifiers.org/clinvar/234909 ^@ NM_030962.3(SBF2):c.4257+1G>A http://identifiers.org/clinvar/234708 ^@ NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) http://identifiers.org/clinvar/234808 ^@ NM_000214.2(JAG1):c.2045G>A (p.Cys682Tyr) http://identifiers.org/clinvar/229692 ^@ NM_000465.3(BARD1):c.1634T>C (p.Leu545Pro) http://identifiers.org/clinvar/232031 ^@ NM_000251.2(MSH2):c.591G>A (p.Lys197=) http://identifiers.org/clinvar/231092 ^@ NM_000251.2(MSH2):c.804A>T (p.Ser268=) http://identifiers.org/clinvar/232131 ^@ NM_000251.2(MSH2):c.812C>A (p.Ser271Tyr) http://identifiers.org/clinvar/232331 ^@ NM_000251.2(MSH2):c.1455G>A (p.Met485Ile) http://identifiers.org/clinvar/232231 ^@ NM_000251.2(MSH2):c.2580G>A (p.Ser860=) http://identifiers.org/clinvar/230542 ^@ NM_000179.2(MSH6):c.2865A>G (p.Leu955=) http://identifiers.org/clinvar/230892 ^@ NM_000249.3(MLH1):c.895A>G (p.Ser299Gly) http://identifiers.org/clinvar/230942 ^@ NM_000038.5(APC):c.1307A>T (p.Asn436Ile) http://identifiers.org/clinvar/229992 ^@ NM_000038.5(APC):c.2433A>G (p.Ser811=) http://identifiers.org/clinvar/230742 ^@ NM_000038.5(APC):c.2775C>T (p.Ser925=) http://identifiers.org/clinvar/263967 ^@ NM_030777.3(SLC2A10):c.1233C>T (p.Thr411=) http://identifiers.org/clinvar/263667 ^@ NM_006440.4(TXNRD2):c.462C>T (p.Tyr154=) http://identifiers.org/clinvar/263717 ^@ NM_004006.2(DMD):c.2323A>G (p.Arg775Gly) http://identifiers.org/clinvar/264681 ^@ NM_006502.2(POLH):c.1661delA (p.Asn555Thrfs) http://identifiers.org/clinvar/264738 ^@ NM_001242896.1(DEPDC5):c.3046C>T (p.Gln1016Ter) http://identifiers.org/clinvar/264943 ^@ NM_000059.3(BRCA2):c.8755-560G>A http://identifiers.org/clinvar/264893 ^@ NM_000059.3(BRCA2):c.*841A>G http://identifiers.org/clinvar/264843 ^@ NM_007294.3(BRCA1):c.5277+2307del http://identifiers.org/clinvar/265199 ^@ NM_006147.3(IRF6):c.859C>T (p.Gln287Ter) http://identifiers.org/clinvar/265148 ^@ NM_000143.3(FH):c.1144A>G (p.Met382Val) http://identifiers.org/clinvar/265453 ^@ NM_022787.3(NMNAT1):c.507G>A (p.Trp169Ter) http://identifiers.org/clinvar/265303 ^@ NM_001165963.1(SCN1A):c.5306A>G (p.Tyr1769Cys) http://identifiers.org/clinvar/264995 ^@ NM_020745.3(AARS2):c.1195A>C (p.Asn399His) http://identifiers.org/clinvar/265048 ^@ NM_152743.3(BRAT1):c.1825C>T (p.Arg609Trp) http://identifiers.org/clinvar/265403 ^@ NM_017780.3(CHD7):c.550C>T (p.Gln184Ter) http://identifiers.org/clinvar/265252 ^@ NM_000257.3(MYH7):c.2334C>G (p.Asp778Glu) http://identifiers.org/clinvar/265098 ^@ NM_014080.4(DUOX2):c.3515+5G>T http://identifiers.org/clinvar/265553 ^@ NM_024675.3(PALB2):c.1496T>A (p.Leu499Ter) http://identifiers.org/clinvar/265704 ^@ NM_024675.3(PALB2):c.178C>T (p.Gln60Ter) http://identifiers.org/clinvar/265604 ^@ NM_000444.5(PHEX):c.134T>A (p.Leu45Ter) http://identifiers.org/clinvar/265503 ^@ NM_000444.5(PHEX):c.1209G>A (p.Trp403Ter) http://identifiers.org/clinvar/265654 ^@ NM_003688.3(CASK):c.2100G>A (p.Trp700Ter) http://identifiers.org/clinvar/265353 ^@ NM_004187.3(KDM5C):c.3880C>T (p.Gln1294Ter) http://identifiers.org/clinvar/265893 ^@ NM_000384.2(APOB):c.10701G>A (p.Thr3567=) http://identifiers.org/clinvar/266375 ^@ NM_007294.3(BRCA1):c.3485_3488delATAC (p.Asp1162Valfs) http://identifiers.org/clinvar/266275 ^@ NM_007294.3(BRCA1):c.2532_2536delCATAG (p.Ser844Argfs) http://identifiers.org/clinvar/266225 ^@ NM_007294.3(BRCA1):c.2142_2144delTACinsAG (p.Asn714Lysfs) http://identifiers.org/clinvar/266175 ^@ NM_007294.3(BRCA1):c.1616_1625delCGGAGCAGAA (p.Thr539Metfs) http://identifiers.org/clinvar/267234 ^@ NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter) http://identifiers.org/clinvar/267298 ^@ NC_012920.1:m.14692A>G http://identifiers.org/clinvar/267381 ^@ c.4507C>T http://identifiers.org/clinvar/267435 ^@ NM_017780.3(CHD7):c.6079C>T (p.Arg2027Ter) http://identifiers.org/clinvar/267671 ^@ NM_000059.3(BRCA2):c.7008-?_7805+?del http://identifiers.org/clinvar/267721 ^@ NM_000059.3(BRCA2):c.9257-2_9261dup http://identifiers.org/clinvar/267571 ^@ NM_007294.3(BRCA1):c.5075-?_5152+?del http://identifiers.org/clinvar/267621 ^@ NM_007294.3(BRCA1):c.81-?_134+?dup http://identifiers.org/clinvar/267521 ^@ NM_007294.3(BRCA1):c.3076_3077ins76 (p.?) http://identifiers.org/clinvar/267800 ^@ 46;XY;t(7;8)(p12.3;p11.2)dn http://identifiers.org/clinvar/267851 ^@ 46;XX;ins(5;6)(p13;p24p25)dn http://identifiers.org/clinvar/267901 ^@ 46;XY;t(1;4)(q21.3;p15.2)dn http://identifiers.org/clinvar/267951 ^@ 46;XX;inv(3)(q13.2q28-29)dn http://identifiers.org/clinvar/268001 ^@ 46;XY;inv(8)(q21.2q24.11) http://identifiers.org/clinvar/268051 ^@ NM_080675.3(SUN5):c.781G>A (p.Val261Met) http://identifiers.org/clinvar/268117 ^@ NM_144772.2(NAXE):c.196C>T (p.Gln66Ter) http://identifiers.org/clinvar/268185 ^@ NM_001003694.1(BRPF1):c.1052_1053delTG (p.Val351Glyfs) http://identifiers.org/clinvar/279597 ^@ NM_018488.3(TBX4):c.557T>G (p.Leu186Arg) http://identifiers.org/clinvar/291612 ^@ NM_015074.3(KIF1B):c.*1986C>G http://identifiers.org/clinvar/336106 ^@ NM_133259.3(LRPPRC):c.*1961T>C http://identifiers.org/clinvar/336206 ^@ NM_000341.3(SLC3A1):c.1495G>T (p.Asp499Tyr) http://identifiers.org/clinvar/336356 ^@ NM_139279.5(MCFD2):c.*1354G>T http://identifiers.org/clinvar/344992 ^@ NM_001106.3(ACVR2B):c.*4650A>C http://identifiers.org/clinvar/345042 ^@ NM_001106.3(ACVR2B):c.*9272C>G http://identifiers.org/clinvar/336913 ^@ NM_001004311.3(FIGLA):c.154G>A (p.Gly52Ser) http://identifiers.org/clinvar/336963 ^@ NM_003494.3(DYSF):c.2998T>G (p.Ser1000Ala) http://identifiers.org/clinvar/345342 ^@ NM_020208.3(SLC6A20):c.*3436C>T http://identifiers.org/clinvar/345492 ^@ NM_024513.3(FYCO1):c.*21C>T http://identifiers.org/clinvar/337163 ^@ NM_003849.3(SUCLG1):c.98-15_98-14insAACC http://identifiers.org/clinvar/337013 ^@ NM_015120.4(ALMS1):c.2727C>T (p.Tyr909=) http://identifiers.org/clinvar/344842 ^@ NM_006371.4(CRTAP):c.*1637G>C http://identifiers.org/clinvar/337363 ^@ NM_022912.2(REEP1):c.*2077delG http://identifiers.org/clinvar/345842 ^@ NM_000094.3(COL7A1):c.4944G>A (p.Pro1648=) http://identifiers.org/clinvar/345092 ^@ NM_198056.2(SCN5A):c.*753C>T http://identifiers.org/clinvar/337263 ^@ NM_000821.6(GGCX):c.1494C>T (p.Arg498=) http://identifiers.org/clinvar/337313 ^@ NM_198843.2(SFTPB):c.68T>C (p.Leu23Pro) http://identifiers.org/clinvar/337413 ^@ NM_004836.6(EIF2AK3):c.1601T>C (p.Ile534Thr) http://identifiers.org/clinvar/345242 ^@ NM_016006.4(ABHD5):c.*1566G>A http://identifiers.org/clinvar/337663 ^@ NM_001298.2(CNGA3):c.1626C>T (p.Ser542=) http://identifiers.org/clinvar/337613 ^@ NM_020184.3(CNNM4):c.*1693G>A http://identifiers.org/clinvar/345692 ^@ NM_015175.2(NBEAL2):c.7736T>C (p.Ile2579Thr) http://identifiers.org/clinvar/345892 ^@ NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) http://identifiers.org/clinvar/347581 ^@ NM_031296.2(RAB33B):c.*1077G>A http://identifiers.org/clinvar/347831 ^@ NM_000509.5(FGG):c.309T>C (p.Asn103=) http://identifiers.org/clinvar/348431 ^@ NM_133330.2(NSD2):c.990A>G (p.Glu330=) http://identifiers.org/clinvar/358298 ^@ NM_003227.3(TFR2):c.557A>C (p.Gln186Pro) http://identifiers.org/clinvar/358448 ^@ NM_006348.3(COG5):c.*247T>C http://identifiers.org/clinvar/358498 ^@ NM_000441.1(SLC26A4):c.888C>T (p.Ile296=) http://identifiers.org/clinvar/362286 ^@ NM_003923.2(FOXH1):c.-206C>T http://identifiers.org/clinvar/362486 ^@ NM_005144.4(HR):c.2777-10C>T http://identifiers.org/clinvar/358648 ^@ NM_014491.3(FOXP2):c.*2030delA http://identifiers.org/clinvar/358848 ^@ NM_000230.2(LEP):c.*2527G>T http://identifiers.org/clinvar/362836 ^@ NM_000349.2(STAR):c.*817C>T http://identifiers.org/clinvar/362986 ^@ NM_000037.3(ANK1):c.4721C>T (p.Thr1574Met) http://identifiers.org/clinvar/363036 ^@ NM_000037.3(ANK1):c.1178C>T (p.Thr393Met) http://identifiers.org/clinvar/363086 ^@ NM_006749.4(SLC20A2):c.787G>A (p.Val263Ile) http://identifiers.org/clinvar/363236 ^@ NM_005914.3(MCM4):c.1829G>A (p.Arg610His) http://identifiers.org/clinvar/363386 ^@ NM_017813.4(IMPAD1):c.*1127_*1133delGATTAAA http://identifiers.org/clinvar/363686 ^@ NM_017866.5(TMEM70):c.-39G>T http://identifiers.org/clinvar/359837 ^@ NM_004403.2(DFNA5):c.*24G>A http://identifiers.org/clinvar/355559 ^@ NM_000416.2(IFNGR1):c.522G>A (p.Val174=) http://identifiers.org/clinvar/355659 ^@ NM_003764.3(STX11):c.*4054dupA http://identifiers.org/clinvar/355509 ^@ NM_017651.4(AHI1):c.1311T>G (p.Ser437=) http://identifiers.org/clinvar/355809 ^@ NM_033071.3(SYNE1):c.24990C>A (p.Gly8330=) http://identifiers.org/clinvar/355609 ^@ NM_003764.3(STX11):c.*700C>T http://identifiers.org/clinvar/360337 ^@ NM_014855.2(AP5Z1):c.1794C>T (p.Ala598=) http://identifiers.org/clinvar/360437 ^@ NM_000790.3(DDC):c.478C>T (p.Arg160Trp) http://identifiers.org/clinvar/360537 ^@ NM_004577.3(PSPH):c.-711G>A http://identifiers.org/clinvar/360587 ^@ NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) http://identifiers.org/clinvar/356259 ^@ NM_000063.5(C2):c.2080-8T>C http://identifiers.org/clinvar/360737 ^@ NM_001540.3(HSPB1):c.216C>T (p.Ala72=) http://identifiers.org/clinvar/365125 ^@ NM_003863.3(DPM2):c.-628A>G http://identifiers.org/clinvar/356409 ^@ NM_080680.2(COL11A2):c.939G>C (p.Glu313Asp) http://identifiers.org/clinvar/360837 ^@ NM_005751.4(AKAP9):c.6946-12A>G http://identifiers.org/clinvar/356159 ^@ NM_001080.3(ALDH5A1):c.*980T>C http://identifiers.org/clinvar/365275 ^@ NM_007171.3(POMT1):c.697_699delAAT (p.Asn233del) http://identifiers.org/clinvar/356359 ^@ NM_148919.3(PSMB8):c.*8G>A http://identifiers.org/clinvar/365375 ^@ NM_015046.5(SETX):c.617A>G (p.Glu206Gly) http://identifiers.org/clinvar/361237 ^@ NM_178857.5(RP1L1):c.5821C>T (p.Gln1941Ter) http://identifiers.org/clinvar/361337 ^@ NM_178857.5(RP1L1):c.2644C>T (p.Arg882Trp) http://identifiers.org/clinvar/365725 ^@ NM_000093.4(COL5A1):c.3939G>T (p.Glu1313Asp) http://identifiers.org/clinvar/361597 ^@ NM_014112.4(TRPS1):c.*498G>A http://identifiers.org/clinvar/356809 ^@ NM_000287.3(PEX6):c.-62C>A http://identifiers.org/clinvar/361647 ^@ NM_014112.4(TRPS1):c.-393_-392dupTT http://identifiers.org/clinvar/361697 ^@ NM_002546.3(TNFRSF11B):c.21C>T (p.Cys7=) http://identifiers.org/clinvar/366276 ^@ NM_002451.3(MTAP):c.*1225G>A http://identifiers.org/clinvar/367315 ^@ NM_017662.4(TRPM6):c.2437A>T (p.Asn813Tyr) http://identifiers.org/clinvar/311426 ^@ NM_002010.2(FGF9):c.*9G>A http://identifiers.org/clinvar/311526 ^@ NM_014363.5(SACS):c.7527T>C (p.Tyr2509=) http://identifiers.org/clinvar/303967 ^@ NM_006757.3(TNNT3):c.-22G>T http://identifiers.org/clinvar/367365 ^@ NM_033305.2(VPS13A):c.2240A>G (p.Asn747Ser) http://identifiers.org/clinvar/312365 ^@ NM_000053.3(ATP7B):c.*963C>T http://identifiers.org/clinvar/312415 ^@ NM_001004127.2(ALG11):c.1034G>T (p.Cys345Phe) http://identifiers.org/clinvar/304267 ^@ NM_000218.2(KCNQ1):c.*904T>C http://identifiers.org/clinvar/312515 ^@ NM_052910.2(SLITRK1):c.-270delT http://identifiers.org/clinvar/298839 ^@ NM_001134363.2(RBM20):c.*2148G>A http://identifiers.org/clinvar/304417 ^@ NM_024426.4(WT1):c.*16G>T http://identifiers.org/clinvar/313015 ^@ NM_025152.2(NUBPL):c.-39G>A http://identifiers.org/clinvar/313115 ^@ NM_020529.2(NFKBIA):c.306C>T (p.Ala102=) http://identifiers.org/clinvar/313165 ^@ NM_006194.3(PAX9):c.150C>T (p.His50=) http://identifiers.org/clinvar/299089 ^@ NM_001609.3(ACADSB):c.1228+21delT http://identifiers.org/clinvar/304617 ^@ NM_021926.3(ALX4):c.*3405G>A http://identifiers.org/clinvar/313215 ^@ NM_020937.3(FANCM):c.4102G>A (p.Val1368Ile) http://identifiers.org/clinvar/299189 ^@ NM_000375.2(UROS):c.512T>C (p.Val171Ala) http://identifiers.org/clinvar/298889 ^@ NM_007373.3(SHOC2):c.*1775T>C http://identifiers.org/clinvar/304867 ^@ NM_002334.3(LRP4):c.3709G>T (p.Ala1237Ser) http://identifiers.org/clinvar/299389 ^@ NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) http://identifiers.org/clinvar/298989 ^@ NM_000141.4(FGFR2):c.*403A>G http://identifiers.org/clinvar/299439 ^@ NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) http://identifiers.org/clinvar/313965 ^@ NM_000021.3(PSEN1):c.*1381G>A http://identifiers.org/clinvar/314015 ^@ NM_031427.3(DNAL1):c.42+9A>G http://identifiers.org/clinvar/299889 ^@ NM_020975.4(RET):c.596A>G (p.Asn199Ser) http://identifiers.org/clinvar/305608 ^@ NM_000920.3(PC):c.*353A>G http://identifiers.org/clinvar/305658 ^@ NM_145200.3(CABP4):c.651+15G>A http://identifiers.org/clinvar/300189 ^@ NM_033056.3(PCDH15):c.2539G>A (p.Asp847Asn) http://identifiers.org/clinvar/299639 ^@ NM_017433.4(MYO3A):c.-132A>G http://identifiers.org/clinvar/305808 ^@ NM_006019.3(TCIRG1):c.1555-12C>T http://identifiers.org/clinvar/315004 ^@ NM_000295.4(SERPINA1):c.*1221A>G http://identifiers.org/clinvar/315054 ^@ NM_177438.2(DICER1):c.*3234G>T http://identifiers.org/clinvar/315104 ^@ NM_177438.2(DICER1):c.4206+11G>T http://identifiers.org/clinvar/315354 ^@ NM_144599.4(NIPA1):c.*3823G>A http://identifiers.org/clinvar/315654 ^@ NM_005159.4(ACTC1):c.*1674C>T http://identifiers.org/clinvar/300039 ^@ NM_000124.3(ERCC6):c.4114G>A (p.Gly1372Arg) http://identifiers.org/clinvar/315854 ^@ NM_144508.4(KNL1):c.2728A>G (p.Arg910Gly) http://identifiers.org/clinvar/315954 ^@ NM_138477.2(CDAN1):c.255G>A (p.Arg85=) http://identifiers.org/clinvar/317644 ^@ NM_000875.4(IGF1R):c.*6581G>A http://identifiers.org/clinvar/329277 ^@ NM_181882.2(PRX):c.1281C>T (p.Ile427=) http://identifiers.org/clinvar/315204 ^@ NM_139057.3(ADAMTS17):c.*989G>A http://identifiers.org/clinvar/315254 ^@ NM_139057.3(ADAMTS17):c.3127+12C>T http://identifiers.org/clinvar/317694 ^@ NM_000246.3(CIITA):c.1499G>C (p.Gly500Ala) http://identifiers.org/clinvar/317794 ^@ NM_004862.3(LITAF):c.-207G>A http://identifiers.org/clinvar/311326 ^@ NM_021954.3(GJA3):c.*319G>T http://identifiers.org/clinvar/311376 ^@ NM_006783.4(GJB6):c.*337G>T http://identifiers.org/clinvar/318096 ^@ NM_001143979.1(NDE1):c.948-6877C>T http://identifiers.org/clinvar/318196 ^@ NM_014714.3(IFT140):c.1006A>C (p.Lys336Gln) http://identifiers.org/clinvar/318296 ^@ NM_003361.3(UMOD):c.425G>A (p.Arg142Gln) http://identifiers.org/clinvar/310421 ^@ NM_001131025.1(PEX5):c.643-5C>T http://identifiers.org/clinvar/310521 ^@ NM_018979.3(WNK1):c.-351dupC http://identifiers.org/clinvar/310826 ^@ NM_018979.3(WNK1):c.4270A>G (p.Ile1424Val) http://identifiers.org/clinvar/337763 ^@ NM_000214.2(JAG1):c.-42G>T http://identifiers.org/clinvar/337813 ^@ NM_024411.4(PDYN):c.*1071G>A http://identifiers.org/clinvar/310676 ^@ NM_002108.3(HAL):c.*1359C>A http://identifiers.org/clinvar/311026 ^@ NM_001845.5(COL4A1):c.4229T>C (p.Met1410Thr) http://identifiers.org/clinvar/338163 ^@ NM_006892.3(DNMT3B):c.1211A>G (p.Tyr404Cys) http://identifiers.org/clinvar/311076 ^@ NM_001845.5(COL4A1):c.553-8C>T http://identifiers.org/clinvar/311226 ^@ NM_000131.4(F7):c.996G>A (p.Thr332=) http://identifiers.org/clinvar/312715 ^@ NM_022489.3(INF2):c.*25A>G http://identifiers.org/clinvar/311576 ^@ NM_014363.5(SACS):c.-70G>A http://identifiers.org/clinvar/339103 ^@ NM_001001433.2(STX16):c.*2496delG http://identifiers.org/clinvar/313415 ^@ NM_172337.2(OTX2):c.*316G>A http://identifiers.org/clinvar/313615 ^@ NM_182914.2(SYNE2):c.16184G>A (p.Gly5395Asp) http://identifiers.org/clinvar/320896 ^@ NM_001127464.2(ZNF469):c.2929G>C (p.Gly977Arg) http://identifiers.org/clinvar/339603 ^@ NM_000933.3(PLCB4):c.*469G>T http://identifiers.org/clinvar/339653 ^@ NM_000484.3(APP):c.-111G>C http://identifiers.org/clinvar/339703 ^@ NM_000628.4(IL10RB):c.*515C>T http://identifiers.org/clinvar/321446 ^@ NM_002386.3(MC1R):c.*226G>A http://identifiers.org/clinvar/321496 ^@ NM_000833.4(GRIN2A):c.*6897delT http://identifiers.org/clinvar/321550 ^@ NM_000833.4(GRIN2A):c.*3483C>T http://identifiers.org/clinvar/314115 ^@ NM_031427.3(DNAL1):c.*6137delG http://identifiers.org/clinvar/340253 ^@ NM_130445.3(COL18A1):c.2683+11C>G http://identifiers.org/clinvar/321700 ^@ NM_017534.5(MYH2):c.87T>C (p.Asn29=) http://identifiers.org/clinvar/312465 ^@ NM_000115.4(EDNRB):c.*859C>T http://identifiers.org/clinvar/326438 ^@ NM_177986.4(DSG4):c.1636+12G>A http://identifiers.org/clinvar/328377 ^@ NM_000435.2(NOTCH3):c.5779G>A (p.Ala1927Thr) http://identifiers.org/clinvar/328427 ^@ NM_173483.3(CYP4F22):c.368-9C>G http://identifiers.org/clinvar/328677 ^@ NM_001031726.3(C19orf12):c.*2790dupT http://identifiers.org/clinvar/328927 ^@ NM_001083961.1(WDR62):c.3537G>A (p.Ala1179=) http://identifiers.org/clinvar/368254 ^@ NM_004006.2(DMD):c.-123T>C http://identifiers.org/clinvar/368304 ^@ NM_006915.2(RP2):c.-44G>C http://identifiers.org/clinvar/329077 ^@ NM_000540.2(RYR1):c.8310+10A>G http://identifiers.org/clinvar/329227 ^@ NM_017827.3(SARS2):c.-12T>C http://identifiers.org/clinvar/368504 ^@ NM_000084.4(CLCN5):c.*2317G>A http://identifiers.org/clinvar/368704 ^@ NM_153252.4(BRWD3):c.*2877G>A http://identifiers.org/clinvar/328077 ^@ NM_000527.4(LDLR):c.*942G>A http://identifiers.org/clinvar/328227 ^@ NM_000455.4(STK11):c.-55C>T http://identifiers.org/clinvar/328477 ^@ NM_000215.3(JAK3):c.*1014C>T http://identifiers.org/clinvar/328527 ^@ NM_000453.2(SLC5A5):c.-184C>T http://identifiers.org/clinvar/328727 ^@ NM_001031726.3(C19orf12):c.*84C>T http://identifiers.org/clinvar/328877 ^@ NM_004646.3(NPHS1):c.505C>A (p.Pro169Thr) http://identifiers.org/clinvar/328977 ^@ NM_032753.3(RAX2):c.-57G>A http://identifiers.org/clinvar/338013 ^@ NM_006899.4(IDH3B):c.1082G>A (p.Arg361Gln) http://identifiers.org/clinvar/338113 ^@ NM_015338.5(ASXL1):c.3759T>C (p.Ser1253=) http://identifiers.org/clinvar/339053 ^@ NM_001001433.2(STX16):c.585G>A (p.Gln195=) http://identifiers.org/clinvar/339153 ^@ NM_207034.2(EDN3):c.*915C>T http://identifiers.org/clinvar/339203 ^@ NM_017671.4(FERMT1):c.*72G>T http://identifiers.org/clinvar/339253 ^@ NM_017671.4(FERMT1):c.-588C>T http://identifiers.org/clinvar/339853 ^@ NM_001754.4(RUNX1):c.*919A>G http://identifiers.org/clinvar/339903 ^@ NM_144492.2(CLDN14):c.-487G>A http://identifiers.org/clinvar/339953 ^@ NM_000411.6(HLCS):c.*490C>T http://identifiers.org/clinvar/340053 ^@ NM_024022.2(TMPRSS3):c.*245C>T http://identifiers.org/clinvar/337963 ^@ NM_014588.5(VSX1):c.474C>G (p.Thr158=) http://identifiers.org/clinvar/338063 ^@ NM_015338.5(ASXL1):c.-265G>T http://identifiers.org/clinvar/338213 ^@ NM_003098.2(SNTA1):c.1205G>A (p.Arg402Gln) http://identifiers.org/clinvar/338313 ^@ NM_000557.4(GDF5):c.*335A>C http://identifiers.org/clinvar/338903 ^@ NM_002591.3(PCK1):c.*357_*360delATGT http://identifiers.org/clinvar/338953 ^@ NM_004738.4(VAPB):c.*1485_*1486delGT http://identifiers.org/clinvar/339003 ^@ NM_004738.4(VAPB):c.*5145T>C http://identifiers.org/clinvar/339503 ^@ NM_015192.3(PLCB1):c.1573A>G (p.Met525Val) http://identifiers.org/clinvar/340003 ^@ NM_020639.2(RIPK4):c.*215G>T http://identifiers.org/clinvar/386205 ^@ NM_020987.4(ANK3):c.1436C>G (p.Ala479Gly) http://identifiers.org/clinvar/383364 ^@ NM_144966.5(FREM1):c.5622G>C (p.Trp1874Cys) http://identifiers.org/clinvar/384866 ^@ NM_032634.3(PIGO):c.2679G>A (p.Ser893=) http://identifiers.org/clinvar/391333 ^@ NM_014141.5(CNTNAP2):c.1897+8T>A http://identifiers.org/clinvar/387655 ^@ NM_003289.3(TPM2):c.-4A>G http://identifiers.org/clinvar/389244 ^@ NM_001080463.1(DYNC2H1):c.1679G>A (p.Arg560Gln) http://identifiers.org/clinvar/386105 ^@ NM_000535.6(PMS2):c.1977A>G (p.Ala659=) http://identifiers.org/clinvar/392333 ^@ NM_152264.4(SLC39A13):c.1069G>T (p.Val357Leu) http://identifiers.org/clinvar/391233 ^@ NM_000314.6(PTEN):c.1170A>G (p.Glu390=) http://identifiers.org/clinvar/389694 ^@ NM_002180.2(IGHMBP2):c.-25C>T http://identifiers.org/clinvar/384666 ^@ NM_000051.3(ATM):c.6453-15C>A http://identifiers.org/clinvar/381671 ^@ NM_000218.2(KCNQ1):c.957G>T (p.Val319=) http://identifiers.org/clinvar/391783 ^@ NM_014191.3(SCN8A):c.5271C>T (p.Val1757=) http://identifiers.org/clinvar/387055 ^@ NM_000368.4(TSC1):c.72C>T (p.Asp24=) http://identifiers.org/clinvar/386705 ^@ NM_014694.3(ADAMTSL2):c.862C>T (p.Arg288Trp) http://identifiers.org/clinvar/391383 ^@ NM_030813.5(CLPB):c.783C>T (p.Arg261=) http://identifiers.org/clinvar/390833 ^@ NM_001127217.2(SMAD9):c.1004-6C>T http://identifiers.org/clinvar/387705 ^@ NM_007327.3(GRIN1):c.1989C>T (p.Arg663=) http://identifiers.org/clinvar/382512 ^@ NM_020297.3(ABCC9):c.284+14G>C http://identifiers.org/clinvar/377608 ^@ NM_000719.6(CACNA1C):c.4050G>A (p.Leu1350=) http://identifiers.org/clinvar/391433 ^@ NM_001160147.1(DDHD1):c.159C>T (p.Asp53=) http://identifiers.org/clinvar/377508 ^@ NM_000051.3(ATM):c.2839-18T>C http://identifiers.org/clinvar/389144 ^@ NM_000257.3(MYH7):c.2922+6G>A http://identifiers.org/clinvar/386955 ^@ NM_005249.4(FOXG1):c.-26C>G http://identifiers.org/clinvar/377758 ^@ NM_001909.4(CTSD):c.69-17C>A http://identifiers.org/clinvar/385955 ^@ NM_000256.3(MYBPC3):c.372C>T (p.Ala124=) http://identifiers.org/clinvar/383013 ^@ NM_024675.3(PALB2):c.3054G>A (p.Glu1018=) http://identifiers.org/clinvar/381771 ^@ NM_024675.3(PALB2):c.2835-11A>G http://identifiers.org/clinvar/384966 ^@ NM_004360.4(CDH1):c.1321-5T>C http://identifiers.org/clinvar/391933 ^@ NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) http://identifiers.org/clinvar/382913 ^@ NM_001271.3(CHD2):c.4762C>T (p.Arg1588Trp) http://identifiers.org/clinvar/377858 ^@ NM_000138.4(FBN1):c.1821T>C (p.Asp607=) http://identifiers.org/clinvar/389744 ^@ NM_012213.2(MLYCD):c.-30G>C http://identifiers.org/clinvar/384916 ^@ NM_006231.3(POLE):c.6363G>A (p.Gln2121=) http://identifiers.org/clinvar/47970 ^@ NM_152594.2(SPRED1):c.675C>T (p.Ser225=) http://identifiers.org/clinvar/48022 ^@ NM_005709.3(USH1C):c.592A>T (p.Ser198Cys) http://identifiers.org/clinvar/48072 ^@ NM_170707.3(LMNA):c.629T>G (p.Ile210Ser) http://identifiers.org/clinvar/48122 ^@ NM_000337.5(SGCD):c.699+13_699+15delAAG http://identifiers.org/clinvar/48172 ^@ NM_194248.2(OTOF):c.1506G>A (p.Ser502=) http://identifiers.org/clinvar/48222 ^@ NM_194248.2(OTOF):c.367G>A (p.Gly123Ser) http://identifiers.org/clinvar/48272 ^@ NM_194248.2(OTOF):c.5826G>A (p.Thr1942=) http://identifiers.org/clinvar/48323 ^@ NM_201555.1(FHL2):c.391C>T (p.Arg131Cys) http://identifiers.org/clinvar/48373 ^@ NM_206933.2(USH2A):c.1139A>G (p.Tyr380Cys) http://identifiers.org/clinvar/48423 ^@ NM_206933.2(USH2A):c.13763C>A (p.Ser4588Tyr) http://identifiers.org/clinvar/48473 ^@ NM_206933.2(USH2A):c.1722T>G (p.Pro574=) http://identifiers.org/clinvar/162 ^@ NM_000274.3(OAT):c.994G>A (p.Val332Met) http://identifiers.org/clinvar/248 ^@ NM_000398.6(CYB5R3):c.478C>T (p.Arg160Ter) http://identifiers.org/clinvar/341 ^@ NF1, 42-BP DUP http://identifiers.org/clinvar/350 ^@ NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) http://identifiers.org/clinvar/455 ^@ NM_000097.5(CPOX):c.489_509del21 (p.Cys164_Val170del) http://identifiers.org/clinvar/514 ^@ NM_001142446.1(ANK1):c.619_638del20 (p.Leu207Glyfs) http://identifiers.org/clinvar/583 ^@ NM_000277.1(PAH):c.261C>A (p.Ser87Arg) http://identifiers.org/clinvar/592 ^@ NM_000277.1(PAH):c.1238G>C (p.Arg413Pro) http://identifiers.org/clinvar/601 ^@ NM_000277.1(PAH):c.1197A>T (p.Val399=) http://identifiers.org/clinvar/705 ^@ NM_000512.4(GALNS):c.280C>G (p.Arg94Gly) http://identifiers.org/clinvar/728 ^@ NM_139075.3(TPCN2):c.2201G>A (p.Gly734Glu) http://identifiers.org/clinvar/805 ^@ NM_000038.5(APC):c.1069dupA (p.Ile357Asnfs) http://identifiers.org/clinvar/961 ^@ NM_000275.2(OCA2):c.1465A>G (p.Asn489Asp) http://identifiers.org/clinvar/966 ^@ NM_181714.3(LCA5):c.1151delC (p.Pro384Glnfs) http://identifiers.org/clinvar/975 ^@ NM_032322.3(RNF135):c.727C>T (p.Gln243Ter) http://identifiers.org/clinvar/1120 ^@ NM_017875.2(SLC25A38):c.560G>C (p.Arg187Pro) http://identifiers.org/clinvar/1161 ^@ NM_014846.3(WASHC5):c.1876G>T (p.Val626Phe) http://identifiers.org/clinvar/1206 ^@ MAT1A, 1-BP INS, 827G http://identifiers.org/clinvar/1257 ^@ NM_001146289.1(P3H1):c.1365_1366delAGinsC (p.Glu455Aspfs) http://identifiers.org/clinvar/1301 ^@ DFNB59, 1-BP DEL, 726T http://identifiers.org/clinvar/1347 ^@ NM_138959.2(VANGL1):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/1393 ^@ NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) http://identifiers.org/clinvar/1529 ^@ NM_000237.2(LPL):c.662T>C (p.Ile221Thr) http://identifiers.org/clinvar/1574 ^@ NM_001171993.1(HPD):c.657T>G (p.Tyr219Ter) http://identifiers.org/clinvar/1669 ^@ NM_000785.3(CYP27B1):c.1166G>A (p.Arg389His) http://identifiers.org/clinvar/1713 ^@ ERCC6, 2254A-G http://identifiers.org/clinvar/1760 ^@ NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs) http://identifiers.org/clinvar/2526 ^@ NM_014629.3(ARHGEF10):c.995C>T (p.Thr332Ile) http://identifiers.org/clinvar/2573 ^@ NM_000483.4(APOC2):c.229A>C (p.Lys77Gln) http://identifiers.org/clinvar/2619 ^@ NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) http://identifiers.org/clinvar/2665 ^@ NM_182760.3(SUMF1):c.979C>T (p.Arg327Ter) http://identifiers.org/clinvar/2711 ^@ NM_178443.2(FERMT3):c.687G>A (p.Trp229Ter) http://identifiers.org/clinvar/2757 ^@ LEMD3, 1-BP DUP, 2154A http://identifiers.org/clinvar/2801 ^@ GNPTG, IVS8AS, G-T, -1 http://identifiers.org/clinvar/2847 ^@ CNNM4, 1-BP DUP, 1312C http://identifiers.org/clinvar/2893 ^@ NM_000419.4(ITGA2B):c.2602-3C>G http://identifiers.org/clinvar/2938 ^@ CTH, 1-BP DEL, 1220C http://identifiers.org/clinvar/2984 ^@ NM_000543.4(SMPD1):c.788T>A (p.Leu263Ter) http://identifiers.org/clinvar/3029 ^@ NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) http://identifiers.org/clinvar/3078 ^@ NM_001085428.2(ARSA):c.632C>A (p.Ser211Tyr) http://identifiers.org/clinvar/3127 ^@ NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) http://identifiers.org/clinvar/3178 ^@ NM_138477.2(CDAN1):c.1796A>G (p.Asn599Ser) http://identifiers.org/clinvar/3222 ^@ NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) http://identifiers.org/clinvar/3271 ^@ NM_024529.4(CDC73):c.128G>A (p.Trp43Ter) http://identifiers.org/clinvar/3316 ^@ AIRE, 4-BP DUP, 205CAGG http://identifiers.org/clinvar/10428 ^@ NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) http://identifiers.org/clinvar/10476 ^@ NM_000032.4(ALAS2):c.1702A>G (p.Ser568Gly) http://identifiers.org/clinvar/10521 ^@ NM_000273.2(GPR143):c.104G>A (p.Gly35Asp) http://identifiers.org/clinvar/10567 ^@ NM_000133.3(F9):c.169C>T (p.Gln57Ter) http://identifiers.org/clinvar/10611 ^@ NM_000133.3(F9):c.1069G>A (p.Gly357Arg) http://identifiers.org/clinvar/10838 ^@ NM_000054.4(AVPR2):c.614A>G (p.Tyr205Cys) http://identifiers.org/clinvar/10883 ^@ NM_000284.3(PDHA1):c.727T>A (p.Tyr243Asn) http://identifiers.org/clinvar/10929 ^@ NM_000397.3(CYBB):c.676C>T (p.Arg226Ter) http://identifiers.org/clinvar/10975 ^@ NM_000475.4(NR0B1):c.1197C>A (p.Tyr399Ter) http://identifiers.org/clinvar/11019 ^@ PCDH19, 1-BP INS, 2030T http://identifiers.org/clinvar/11064 ^@ NM_001015877.1(PHF6):c.296G>T (p.Cys99Phe) http://identifiers.org/clinvar/11109 ^@ TAZ, IVS1AS, A-G, -2 http://identifiers.org/clinvar/11154 ^@ NM_000390.3(CHM):c.877C>T (p.Arg293Ter) http://identifiers.org/clinvar/11245 ^@ DMD, 1-BP INS, NT1554 http://identifiers.org/clinvar/11290 ^@ NM_004006.2(DMD):c.5985T>G (p.Tyr1995Ter) http://identifiers.org/clinvar/11335 ^@ TBX22, 3-BP DUP, 583GCT http://identifiers.org/clinvar/11381 ^@ NM_000061.2(BTK):c.1625T>C (p.Leu542Pro) http://identifiers.org/clinvar/11440 ^@ ZIC3, 2-BP INS, 1507TT http://identifiers.org/clinvar/11491 ^@ NM_006579.2(EBP):c.587G>A (p.Trp196Ter) http://identifiers.org/clinvar/11592 ^@ NM_001363.4(DKC1):c.361A>G (p.Ser121Gly) http://identifiers.org/clinvar/11642 ^@ NM_006517.4(SLC16A2):c.1612delC (p.Pro538Glnfs) http://identifiers.org/clinvar/11693 ^@ NM_004484.3(GPC3):c.337+1G>A http://identifiers.org/clinvar/11744 ^@ NM_000489.4(ATRX):c.6149T>C (p.Ile2050Thr) http://identifiers.org/clinvar/11795 ^@ NM_000052.6(ATP7A):c.4156C>T (p.Pro1386Ser) http://identifiers.org/clinvar/11845 ^@ NM_001110792.1(MECP2):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/11895 ^@ NM_000128.3(F11):c.1378T>G (p.Phe460Val) http://identifiers.org/clinvar/11945 ^@ NM_001918.3(DBT):c.940_1017del78 http://identifiers.org/clinvar/11997 ^@ NM_000151.3(G6PC):c.379_380dupTA (p.Tyr128Thrfs) http://identifiers.org/clinvar/12047 ^@ NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter) http://identifiers.org/clinvar/12097 ^@ NM_000196.3(HSD11B2):c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) http://identifiers.org/clinvar/12147 ^@ NM_024649.4(BBS1):c.1553T>C (p.Leu518Pro) http://identifiers.org/clinvar/12201 ^@ NM_003383.4(VLDLR):c.769C>T (p.Arg257Ter) http://identifiers.org/clinvar/12253 ^@ NM_003357.4(SCGB1A1):c.-38G= http://identifiers.org/clinvar/12355 ^@ NM_000546.5(TP53):c.734G>A (p.Gly245Asp) http://identifiers.org/clinvar/12406 ^@ NM_000548.4(TSC2):c.2355+2_2355+5delTAGG http://identifiers.org/clinvar/12458 ^@ NM_001018005.1(TPM1):c.160G>A (p.Glu54Lys) http://identifiers.org/clinvar/12508 ^@ NM_003242.5(TGFBR2):c.1006T>A (p.Tyr336Asn) http://identifiers.org/clinvar/12558 ^@ NM_001128177.1(THRB):c.1012C>T (p.Arg338Trp) http://identifiers.org/clinvar/12609 ^@ NM_005343.3(HRAS):c.64C>A (p.Gln22Lys) http://identifiers.org/clinvar/12659 ^@ NM_001256850.1(TTN):c.835C>T (p.Arg279Trp) http://identifiers.org/clinvar/12710 ^@ NM_004614.4(TK2):c.323C>T (p.Thr108Met) http://identifiers.org/clinvar/37080 ^@ NM_000341.3(SLC3A1):c.1597T>A (p.Tyr533Asn) http://identifiers.org/clinvar/37145 ^@ NM_000484.3(APP):c.2017G>A (p.Ala673Thr) http://identifiers.org/clinvar/37294 ^@ CEP164, TER1460TRP http://identifiers.org/clinvar/37379 ^@ NM_005732.3(RAD50):c.1663A>G (p.Ile555Val) http://identifiers.org/clinvar/37430 ^@ NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) http://identifiers.org/clinvar/38260 ^@ NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) http://identifiers.org/clinvar/38322 ^@ NM_000168.5(GLI3):c.3004delG (p.Val1002Terfs) http://identifiers.org/clinvar/38379 ^@ NM_005211.3(CSF1R):c.2442+5G>C http://identifiers.org/clinvar/38434 ^@ NM_024312.4(GNPTAB):c.848delA (p.Thr284Leufs) http://identifiers.org/clinvar/38594 ^@ NM_020630.4(RET):c.1013C>T (p.Thr338Ile) http://identifiers.org/clinvar/38762 ^@ NM_000495.4(COL4A5):c.2164G>C (p.Gly722Arg) http://identifiers.org/clinvar/38936 ^@ NM_001363.4(DKC1):c.1156G>A (p.Ala386Thr) http://identifiers.org/clinvar/38987 ^@ NM_004614.4(TK2):c.373C>T (p.Gln125Ter) http://identifiers.org/clinvar/39038 ^@ NM_024312.4(GNPTAB):c.168T>A (p.Tyr56Ter) http://identifiers.org/clinvar/39088 ^@ NM_024312.4:c.750+3A>C http://identifiers.org/clinvar/39145 ^@ NM_198578.3(LRRK2):c.2147C>T (p.Ala716Val) http://identifiers.org/clinvar/39195 ^@ NM_198578.3(LRRK2):c.4793T>A (p.Val1598Glu) http://identifiers.org/clinvar/39245 ^@ NM_198578.3(LRRK2):c.894T>C (p.Ala298=) http://identifiers.org/clinvar/39296 ^@ NR_001566.1(TERC):n.450G>A http://identifiers.org/clinvar/39459 ^@ NM_001111.4(ADAR):c.3335A>T (p.Tyr1112Phe) http://identifiers.org/clinvar/39510 ^@ NM_006177.3(NRL):c.287T>C (p.Met96Thr) http://identifiers.org/clinvar/39560 ^@ CYP4F22, TRP521TER http://identifiers.org/clinvar/39611 ^@ NM_001101426.3(ISPD):c.466G>A (p.Asp156Asn) http://identifiers.org/clinvar/39662 ^@ NM_000833.4(GRIN2A):c.1945C>G (p.Leu649Val) http://identifiers.org/clinvar/39714 ^@ NM_018486.2(HDAC8):c.1001A>G (p.His334Arg) http://identifiers.org/clinvar/39765 ^@ NM_017909.3(RMND1):c.1250G>A (p.Arg417Gln) http://identifiers.org/clinvar/39815 ^@ NM_005465.4(AKT3):c.686A>G (p.Asn229Ser) http://identifiers.org/clinvar/39866 ^@ NM_020376.3(PNPLA2):c.749A>C (p.Gln250Pro) http://identifiers.org/clinvar/40050 ^@ NM_001199835.1(SNX10):c.152G>A (p.Arg51Gln) http://identifiers.org/clinvar/40205 ^@ NM_000693.3(ALDH1A3):c.475+1G>T http://identifiers.org/clinvar/51151 ^@ NM_000059.3(BRCA2):c.1596_1597delAA (p.Glu532Aspfs) http://identifiers.org/clinvar/51201 ^@ NM_000059.3(BRCA2):c.1805delG (p.Gly602Glufs) http://identifiers.org/clinvar/51254 ^@ NM_000059.3(BRCA2):c.2187A>G (p.Ile729Met) http://identifiers.org/clinvar/51304 ^@ NM_000059.3(BRCA2):c.2545delG (p.Val849Tyrfs) http://identifiers.org/clinvar/52118 ^@ NM_000059.3(BRCA2):c.6494delT (p.Leu2165Trpfs) http://identifiers.org/clinvar/52169 ^@ NM_000059.3(BRCA2):c.671A>T (p.Asp224Val) http://identifiers.org/clinvar/52219 ^@ NM_000059.3(BRCA2):c.6929C>A (p.Thr2310Asn) http://identifiers.org/clinvar/52271 ^@ NM_000059.3(BRCA2):c.7115C>G (p.Ser2372Ter) http://identifiers.org/clinvar/52321 ^@ NM_000059.3(BRCA2):c.740T>C (p.Ile247Thr) http://identifiers.org/clinvar/52371 ^@ NM_000059.3(BRCA2):c.7625C>G (p.Thr2542Arg) http://identifiers.org/clinvar/52522 ^@ NM_000059.3(BRCA2):c.8189C>T (p.Ala2730Val) http://identifiers.org/clinvar/52573 ^@ NM_000059.3(BRCA2):c.8394_8396delTAGinsAA (p.Arg2799Asnfs) http://identifiers.org/clinvar/52623 ^@ NM_000059.3(BRCA2):c.8572C>A (p.Gln2858Lys) http://identifiers.org/clinvar/52675 ^@ NM_000059.3(BRCA2):c.8770G>T (p.Glu2924Ter) http://identifiers.org/clinvar/52725 ^@ NM_000059.3(BRCA2):c.9006A>T (p.Glu3002Asp) http://identifiers.org/clinvar/52776 ^@ NM_000059.3(BRCA2):c.9207T>A (p.Cys3069Ter) http://identifiers.org/clinvar/52827 ^@ NM_000059.3(BRCA2):c.9385C>G (p.Pro3129Ala) http://identifiers.org/clinvar/52878 ^@ NM_000059.3(BRCA2):c.9646C>T (p.Leu3216=) http://identifiers.org/clinvar/52928 ^@ NM_000218.2(KCNQ1):c.1013C>T (p.Ser338Phe) http://identifiers.org/clinvar/52978 ^@ NM_000218.2(KCNQ1):c.1343dupC (p.Glu449Argfs) http://identifiers.org/clinvar/53028 ^@ NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) http://identifiers.org/clinvar/53078 ^@ NM_000218.2(KCNQ1):c.610A>T (p.Ile204Phe) http://identifiers.org/clinvar/53129 ^@ NM_000218.2(KCNQ1):c.922-2A>C http://identifiers.org/clinvar/53181 ^@ NM_000492.3(CFTR):c.1076A>G (p.Gln359Arg) http://identifiers.org/clinvar/53233 ^@ NM_000492.3(CFTR):c.1340delA (p.Lys447Argfs) http://identifiers.org/clinvar/53284 ^@ NM_000492.3(CFTR):c.1584+18672A>G http://identifiers.org/clinvar/53335 ^@ NM_000492.3(CFTR):c.1679+1G>C http://identifiers.org/clinvar/53385 ^@ NM_000492.3(CFTR):c.1786_1787delGC (p.Ala596Terfs) http://identifiers.org/clinvar/53437 ^@ NM_000492.3(CFTR):c.2083dupG (p.Glu695Glyfs) http://identifiers.org/clinvar/53693 ^@ NM_000492.3(CFTR):c.3241G>C (p.Ala1081Pro) http://identifiers.org/clinvar/53743 ^@ NM_000492.3(CFTR):c.343_345delGAG (p.Glu116del) http://identifiers.org/clinvar/53794 ^@ NM_000492.3(CFTR):c.3718-79T>C http://identifiers.org/clinvar/53848 ^@ NM_000492.3(CFTR):c.3908dupA (p.Asn1303Lysfs) http://identifiers.org/clinvar/53898 ^@ NM_000492.3(CFTR):c.4139delC (p.Thr1380Asnfs) http://identifiers.org/clinvar/54742 ^@ NM_007294.3(BRCA1):c.2998G>A (p.Glu1000Lys) http://identifiers.org/clinvar/54792 ^@ NM_007294.3(BRCA1):c.3181delA (p.Ile1061Terfs) http://identifiers.org/clinvar/54842 ^@ NM_007294.3(BRCA1):c.3329delA (p.Lys1110Serfs) http://identifiers.org/clinvar/54892 ^@ NM_007294.3(BRCA1):c.3468delT (p.Asp1156Glufs) http://identifiers.org/clinvar/54942 ^@ NM_007294.3(BRCA1):c.3625T>G (p.Leu1209Val) http://identifiers.org/clinvar/54994 ^@ NM_007294.3(BRCA1):c.3760A>G (p.Lys1254Glu) http://identifiers.org/clinvar/55045 ^@ NM_007294.3(BRCA1):c.3904G>T (p.Glu1302Ter) http://identifiers.org/clinvar/55096 ^@ NM_007294.3(BRCA1):c.4072G>A (p.Glu1358Lys) http://identifiers.org/clinvar/55147 ^@ NM_007294.3(BRCA1):c.4232T>C (p.Met1411Thr) http://identifiers.org/clinvar/55198 ^@ NM_007294.3(BRCA1):c.442_444delCAG (p.Gln148del) http://identifiers.org/clinvar/55248 ^@ NM_007294.3(BRCA1):c.463C>T (p.Gln155Ter) http://identifiers.org/clinvar/55299 ^@ NM_007294.3(BRCA1):c.4837delA (p.Ser1613Valfs) http://identifiers.org/clinvar/55349 ^@ NM_007294.3(BRCA1):c.4988T>A (p.Met1663Lys) http://identifiers.org/clinvar/55399 ^@ NM_007294.3(BRCA1):c.5098A>G (p.Thr1700Ala) http://identifiers.org/clinvar/55449 ^@ NM_007294.3(BRCA1):c.5193+1delG http://identifiers.org/clinvar/55501 ^@ NM_007294.3(BRCA1):c.5278-1G>C http://identifiers.org/clinvar/55552 ^@ NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) http://identifiers.org/clinvar/55602 ^@ NM_007294.3(BRCA1):c.5503_5564del62 (p.Arg1835Thrfs) http://identifiers.org/clinvar/55652 ^@ NM_007294.3(BRCA1):c.637A>G (p.Arg213Gly) http://identifiers.org/clinvar/55705 ^@ NM_007294.3(BRCA1):c.791_794delGTTC (p.Ser264Metfs) http://identifiers.org/clinvar/55756 ^@ NM_007294.3(BRCA1):c.926A>C (p.Lys309Thr) http://identifiers.org/clinvar/55828 ^@ NM_005236.2(ERCC4):c.1730dupA (p.Tyr577Terfs) http://identifiers.org/clinvar/55964 ^@ NM_000111.2(SLC26A3):c.1136G>C (p.Gly379Ala) http://identifiers.org/clinvar/56016 ^@ NM_000112.3(SLC26A2):c.1650delG (p.Ser551Valfs) http://identifiers.org/clinvar/57249 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x3 http://identifiers.org/clinvar/125541 ^@ U14680.1:n.2294delG http://identifiers.org/clinvar/125624 ^@ NM_007294.3(BRCA1):c.3327A>G (p.Lys1109=) http://identifiers.org/clinvar/125692 ^@ NM_007294.3(BRCA1):c.4185+5_4185+7delAAA http://identifiers.org/clinvar/125755 ^@ NM_007294.3(BRCA1):c.5033_5034ins4 http://identifiers.org/clinvar/125831 ^@ NM_007294.3(BRCA1):c.5333-8C>T http://identifiers.org/clinvar/125894 ^@ U14680.1:n.668-58delT http://identifiers.org/clinvar/125956 ^@ NM_000059.3(BRCA2):c.-39-5delT http://identifiers.org/clinvar/126019 ^@ U43746.1:n.3875_3876delGT http://identifiers.org/clinvar/126093 ^@ NM_000059.3(BRCA2):c.6219dupA (p.His2074Thrfs) http://identifiers.org/clinvar/126154 ^@ NM_000059.3(BRCA2):c.7662_7663ins37 (p.?) http://identifiers.org/clinvar/126214 ^@ NM_000059.3(BRCA2):c.9513_9515delACT (p.Leu3172del) http://identifiers.org/clinvar/126272 ^@ NM_017777.3(MKS1):c.1671G>C (p.Leu557=) http://identifiers.org/clinvar/126323 ^@ NM_020732.3(ARID1B):c.2896G>A (p.Gly966Ser) http://identifiers.org/clinvar/126379 ^@ NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter) http://identifiers.org/clinvar/126430 ^@ NM_001017975.4(HFM1):c.2206G>A (p.Gly736Ser) http://identifiers.org/clinvar/126503 ^@ NM_012338.3(TSPAN12):c.413A>G (p.Tyr138Cys) http://identifiers.org/clinvar/126584 ^@ NM_024675.3(PALB2):c.1038A>G (p.Lys346=) http://identifiers.org/clinvar/126634 ^@ NM_024675.3(PALB2):c.212-33A>C http://identifiers.org/clinvar/126686 ^@ NM_024675.3(PALB2):c.2834+20T>G http://identifiers.org/clinvar/126736 ^@ NM_024675.3(PALB2):c.3350+16T>G http://identifiers.org/clinvar/126787 ^@ NG_009009.1:g.154289dupA http://identifiers.org/clinvar/126838 ^@ NM_000321.2(RB1):c.1456_1457delTT (p.Leu486Ilefs) http://identifiers.org/clinvar/126892 ^@ NM_000179.2(MSH6):c.3163G>C (p.Ala1055Pro) http://identifiers.org/clinvar/126947 ^@ NM_001127464.2(ZNF469):c.9011_9025delTTCCCGGGAACACCC (p.Leu3004_Thr3008del) http://identifiers.org/clinvar/126997 ^@ NM_005732.3(RAD50):c.551+85A>G http://identifiers.org/clinvar/127047 ^@ NM_134424.3(RAD52):c.*324G>A http://identifiers.org/clinvar/127104 ^@ NM_001080517.2(SETD5):c.3001C>T (p.Arg1001Ter) http://identifiers.org/clinvar/127171 ^@ NM_001101.3(ACTB):c.611C>G (p.Ala204Gly) http://identifiers.org/clinvar/158660 ^@ NM_018486.2(HDAC8):c.24G>A (p.Ala8=) http://identifiers.org/clinvar/159906 ^@ NM_006517.4(SLC16A2):c.277C>T (p.Gln93Ter) http://identifiers.org/clinvar/160781 ^@ GRCh38/hg38 12p12.1(chr12:24638349-25193743)x3 http://identifiers.org/clinvar/160831 ^@ GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3 http://identifiers.org/clinvar/160884 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 http://identifiers.org/clinvar/160936 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 http://identifiers.org/clinvar/160986 ^@ GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3 http://identifiers.org/clinvar/161037 ^@ GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 http://identifiers.org/clinvar/161087 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 http://identifiers.org/clinvar/161137 ^@ NM_152296.4(ATP1A3):c.2316C>A (p.Ser772Arg) http://identifiers.org/clinvar/161319 ^@ NM_001040113.1(MYH11):c.2026C>T (p.Arg676Cys) http://identifiers.org/clinvar/161269 ^@ NM_000527.4(LDLR):c.296C>G (p.Ser99Ter) http://identifiers.org/clinvar/161369 ^@ NM_000540.2(RYR1):c.2275A>G (p.Asn759Asp) http://identifiers.org/clinvar/161219 ^@ NM_000109.3(DMD):c.7547G>A (p.Arg2516His) http://identifiers.org/clinvar/162609 ^@ NM_001002909.3(GPATCH8):c.2935G>C (p.Ala979Pro) http://identifiers.org/clinvar/165117 ^@ NM_001035.2(RYR2):c.10680T>A (p.His3560Gln) http://identifiers.org/clinvar/163529 ^@ NM_024009.2(GJB3):c.313C>A (p.His105Asn) http://identifiers.org/clinvar/165653 ^@ NM_133378.4(TTN):c.94324A>C (p.Ser31442Arg) http://identifiers.org/clinvar/165994 ^@ NM_001267550.2(TTN):c.52656_52684del29insCAGATCCCAAAACAGATCCC (p.Gly17553_Lys17562delinsArgSerGlnAsnArgSerGln) http://identifiers.org/clinvar/165841 ^@ NM_133378.4(TTN):c.66841C>T (p.Arg22281Trp) http://identifiers.org/clinvar/165935 ^@ NM_133378.4(TTN):c.51914T>C (p.Leu17305Pro) http://identifiers.org/clinvar/164795 ^@ NM_144573.3(NEXN):c.1660-11_1660-7delTTTTA http://identifiers.org/clinvar/164881 ^@ NM_194248.2(OTOF):c.154G>A (p.Val52Met) http://identifiers.org/clinvar/163373 ^@ NM_005228.4(EGFR):c.2290_2291insACCATC (p.Tyr764_Val765insHisHis) http://identifiers.org/clinvar/163629 ^@ NM_032119.3(ADGRV1):c.17528A>G (p.Tyr5843Cys) http://identifiers.org/clinvar/198808 ^@ NM_004463.2(FGD1):c.1617G>A (p.Pro539=) http://identifiers.org/clinvar/198862 ^@ NM_014795.3(ZEB2):c.1927_1934delAAAGGAATinsGG (p.Lys643_Met645delinsGly) http://identifiers.org/clinvar/198917 ^@ NM_001043353.1(TPM3):c.595-7C>A http://identifiers.org/clinvar/198969 ^@ NM_033071.3(SYNE1):c.16637G>A (p.Arg5546Gln) http://identifiers.org/clinvar/199020 ^@ NM_000430.3(PAFAH1B1):c.958A>G (p.Ile320Val) http://identifiers.org/clinvar/199070 ^@ NM_001849.3(COL6A2):c.933A>T (p.Glu311Asp) http://identifiers.org/clinvar/199125 ^@ NM_012224.2(NEK1):c.782G>A (p.Arg261His) http://identifiers.org/clinvar/199175 ^@ NM_032119.3(ADGRV1):c.1675T>C (p.Tyr559His) http://identifiers.org/clinvar/199231 ^@ NM_001267550.2(TTN):c.28076A>G (p.Asn9359Ser) http://identifiers.org/clinvar/199732 ^@ NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) http://identifiers.org/clinvar/199841 ^@ NM_004415.3(DSP):c.4997G>A (p.Arg1666Gln) http://identifiers.org/clinvar/199898 ^@ NM_004415.3(DSP):c.6179A>G (p.Asp2060Gly) http://identifiers.org/clinvar/200691 ^@ NM_000238.3(KCNH2):c.2966-2_2967dupAGGC http://identifiers.org/clinvar/200423 ^@ NM_000238.3(KCNH2):c.2263G>A (p.Ala755Thr) http://identifiers.org/clinvar/200586 ^@ NM_000238.3(KCNH2):c.301A>T (p.Lys101Ter) http://identifiers.org/clinvar/200809 ^@ NM_000238.3(KCNH2):c.154delT (p.Cys52Alafs) http://identifiers.org/clinvar/200270 ^@ NM_000238.3(KCNH2):c.-13-7_-12delGGCCCGCCC http://identifiers.org/clinvar/199674 ^@ NM_001613.2(ACTA2):c.763G>A (p.Glu255Lys) http://identifiers.org/clinvar/200862 ^@ NM_000218.2(KCNQ1):c.1811A>T (p.Gln604Leu) http://identifiers.org/clinvar/200991 ^@ NM_130799.2(MEN1):c.1730T>C (p.Leu577Pro) http://identifiers.org/clinvar/199954 ^@ NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) http://identifiers.org/clinvar/200125 ^@ NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) http://identifiers.org/clinvar/200068 ^@ NM_000138.4(FBN1):c.5767T>C (p.Ser1923Pro) http://identifiers.org/clinvar/200013 ^@ NM_000138.4(FBN1):c.3173G>T (p.Gly1058Val) http://identifiers.org/clinvar/200180 ^@ NM_000138.4(FBN1):c.2293+5G>A http://identifiers.org/clinvar/199788 ^@ NM_001943.4(DSG2):c.1463A>G (p.Asn488Ser) http://identifiers.org/clinvar/200922 ^@ NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) http://identifiers.org/clinvar/203114 ^@ NM_001256850.1(TTN):c.102379G>A (p.Asp34127Asn) http://identifiers.org/clinvar/203064 ^@ NM_001256850.1(TTN):c.96773A>G (p.Asp32258Gly) http://identifiers.org/clinvar/203014 ^@ NM_001256850.1(TTN):c.90598A>G (p.Asn30200Asp) http://identifiers.org/clinvar/202964 ^@ NM_001256850.1(TTN):c.85258G>A (p.Val28420Ile) http://identifiers.org/clinvar/202914 ^@ NM_001256850.1(TTN):c.77831C>A (p.Ser25944Tyr) http://identifiers.org/clinvar/202864 ^@ NM_001256850.1(TTN):c.70991C>T (p.Pro23664Leu) http://identifiers.org/clinvar/202814 ^@ NM_001256850.1(TTN):c.62869A>C (p.Ser20957Arg) http://identifiers.org/clinvar/231392 ^@ NM_000038.5(APC):c.4757A>T (p.Lys1586Met) http://identifiers.org/clinvar/233432 ^@ NM_000038.5(APC):c.6381A>G (p.Gln2127=) http://identifiers.org/clinvar/233532 ^@ NM_005732.3(RAD50):c.419T>A (p.Met140Lys) http://identifiers.org/clinvar/231992 ^@ NM_000535.6(PMS2):c.2446G>T (p.Val816Leu) http://identifiers.org/clinvar/233733 ^@ NM_000535.6(PMS2):c.2385G>T (p.Gly795=) http://identifiers.org/clinvar/233232 ^@ NM_000535.6(PMS2):c.881G>A (p.Arg294Gln) http://identifiers.org/clinvar/231742 ^@ NM_000535.6(PMS2):c.615G>T (p.Gln205His) http://identifiers.org/clinvar/232392 ^@ NM_020975.4(RET):c.1341C>T (p.Ala447=) http://identifiers.org/clinvar/229653 ^@ NM_000314.6(PTEN):c.802-3delT http://identifiers.org/clinvar/233834 ^@ NM_000051.3(ATM):c.28A>G (p.Ile10Val) http://identifiers.org/clinvar/232342 ^@ NM_000051.3(ATM):c.1935C>T (p.Phe645=) http://identifiers.org/clinvar/233985 ^@ NM_000051.3(ATM):c.2688T>C (p.Leu896=) http://identifiers.org/clinvar/233935 ^@ NM_000051.3(ATM):c.3218dupT (p.Phe1074Ilefs) http://identifiers.org/clinvar/231892 ^@ NM_000051.3(ATM):c.3402+2T>C http://identifiers.org/clinvar/233885 ^@ NM_000051.3(ATM):c.3568G>C (p.Val1190Leu) http://identifiers.org/clinvar/231492 ^@ NM_000051.3(ATM):c.5319+3C>A http://identifiers.org/clinvar/233182 ^@ NM_000051.3(ATM):c.5497-1G>A http://identifiers.org/clinvar/231842 ^@ NM_000051.3(ATM):c.7919C>G (p.Thr2640Ser) http://identifiers.org/clinvar/233682 ^@ NM_000051.3(ATM):c.8987+5G>C http://identifiers.org/clinvar/234235 ^@ NM_005591.3(MRE11):c.1358G>C (p.Gly453Ala) http://identifiers.org/clinvar/231692 ^@ NM_005591.3(MRE11):c.1018A>T (p.Ile340Phe) http://identifiers.org/clinvar/233332 ^@ NM_000075.3(CDK4):c.778G>T (p.Val260Leu) http://identifiers.org/clinvar/231942 ^@ NM_000059.3(BRCA2):c.1851A>G (p.Ser617=) http://identifiers.org/clinvar/232442 ^@ NM_000059.3(BRCA2):c.1995A>G (p.Thr665=) http://identifiers.org/clinvar/232092 ^@ NM_000059.3(BRCA2):c.2148G>C (p.Gln716His) http://identifiers.org/clinvar/231592 ^@ NM_000059.3(BRCA2):c.4289C>T (p.Thr1430Ile) http://identifiers.org/clinvar/233784 ^@ NM_000059.3(BRCA2):c.5267T>A (p.Val1756Glu) http://identifiers.org/clinvar/231792 ^@ NM_000059.3(BRCA2):c.6351T>A (p.Cys2117Ter) http://identifiers.org/clinvar/231442 ^@ NM_024675.3(PALB2):c.2506G>A (p.Val836Ile) http://identifiers.org/clinvar/231292 ^@ NM_024675.3(PALB2):c.1573G>T (p.Asp525Tyr) http://identifiers.org/clinvar/234085 ^@ NM_024675.3(PALB2):c.1157C>G (p.Thr386Ser) http://identifiers.org/clinvar/231142 ^@ NM_024675.3(PALB2):c.512T>G (p.Leu171Trp) http://identifiers.org/clinvar/231342 ^@ NM_004360.4(CDH1):c.531G>A (p.Gln177=) http://identifiers.org/clinvar/232492 ^@ NM_001042492.2(NF1):c.3812T>C (p.Met1271Thr) http://identifiers.org/clinvar/234185 ^@ NM_001042492.2(NF1):c.4055G>C (p.Ser1352Thr) http://identifiers.org/clinvar/232042 ^@ NM_007294.3(BRCA1):c.2996T>G (p.Leu999Arg) http://identifiers.org/clinvar/232242 ^@ NM_007294.3(BRCA1):c.1794A>G (p.Leu598=) http://identifiers.org/clinvar/233482 ^@ NM_007294.3(BRCA1):c.1718C>T (p.Ser573Leu) http://identifiers.org/clinvar/234035 ^@ NM_058216.2(RAD51C):c.451G>A (p.Val151Met) http://identifiers.org/clinvar/232292 ^@ NM_032043.2(BRIP1):c.2717A>G (p.Glu906Gly) http://identifiers.org/clinvar/231192 ^@ NM_032043.2(BRIP1):c.2539G>A (p.Asp847Asn) http://identifiers.org/clinvar/233282 ^@ NM_032043.2(BRIP1):c.363T>A (p.Thr121=) http://identifiers.org/clinvar/232142 ^@ NM_000546.5(TP53):c.543C>T (p.Arg181=) http://identifiers.org/clinvar/229703 ^@ NM_007194.3(CHEK2):c.877G>A (p.Asp293Asn) http://identifiers.org/clinvar/235010 ^@ NC_012920.1:m.12535C>T http://identifiers.org/clinvar/242395 ^@ NM_138691.2(TMC1):c.1210T>C (p.Trp404Arg) http://identifiers.org/clinvar/236320 ^@ NC_000015.8:g.19359417_20778963dup1419547 http://identifiers.org/clinvar/236370 ^@ NC_000015.9:g.25334522_28369712dup3035191 http://identifiers.org/clinvar/236471 ^@ NM_201253.2(CRB1):c.2309G>A (p.Gly770Asp) http://identifiers.org/clinvar/236521 ^@ NM_006017.2(PROM1):c.694+1G>A http://identifiers.org/clinvar/236421 ^@ NM_015629.3(PRPF31):c.400delG (p.Asp134Ilefs) http://identifiers.org/clinvar/238817 ^@ NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser) http://identifiers.org/clinvar/238767 ^@ NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr) http://identifiers.org/clinvar/238867 ^@ NM_001267550.2(TTN):c.9448C>G (p.Arg3150Gly) http://identifiers.org/clinvar/237377 ^@ NM_000251.2(MSH2):c.1937A>C (p.Asp646Ala) http://identifiers.org/clinvar/237126 ^@ NM_000179.2(MSH6):c.1131G>T (p.Lys377Asn) http://identifiers.org/clinvar/237176 ^@ NM_000179.2(MSH6):c.3072G>A (p.Arg1024=) http://identifiers.org/clinvar/242171 ^@ NM_181426.1(CCDC39):c.1865A>G (p.Glu622Gly) http://identifiers.org/clinvar/237327 ^@ NM_000249.3(MLH1):c.1990-6G>A http://identifiers.org/clinvar/238567 ^@ NM_001148.4(ANK2):c.11150T>A (p.Ile3717Asn) http://identifiers.org/clinvar/237277 ^@ NM_000222.2(KIT):c.466C>A (p.Leu156Ile) http://identifiers.org/clinvar/237628 ^@ NM_000297.3(PKD2):c.1546G>T (p.Val516Leu) http://identifiers.org/clinvar/236571 ^@ NM_000038.5(APC):c.2220C>A (p.Ala740=) http://identifiers.org/clinvar/236621 ^@ NM_000038.5(APC):c.5695G>C (p.Glu1899Gln) http://identifiers.org/clinvar/242221 ^@ NM_198253.2(TERT):c.2001C>T (p.Tyr667=) http://identifiers.org/clinvar/239068 ^@ NM_001903.4(CTNNA1):c.732A>C (p.Ile244=) http://identifiers.org/clinvar/238967 ^@ NM_001369.2(DNAH5):c.2211C>T (p.Ser737=) http://identifiers.org/clinvar/238617 ^@ NM_001190787.1(MCIDAS):c.1062C>T (p.Ser354=) http://identifiers.org/clinvar/238917 ^@ NM_001277115.1(DNAH11):c.4282A>G (p.Thr1428Ala) http://identifiers.org/clinvar/263020 ^@ NM_182925.4(FLT4):c.1104-42T>C http://identifiers.org/clinvar/263070 ^@ NM_182925.4(FLT4):c.677-28G>A http://identifiers.org/clinvar/257631 ^@ NM_001206927.1(DNAH8):c.3034+9T>C http://identifiers.org/clinvar/260181 ^@ NM_012120.2(CD2AP):c.1204C>T (p.Leu402=) http://identifiers.org/clinvar/262420 ^@ NM_138694.3(PKHD1):c.8174-49G>C http://identifiers.org/clinvar/263120 ^@ NM_198428.2(BBS9):c.1562G>A (p.Arg521Gln) http://identifiers.org/clinvar/254742 ^@ NM_000048.3(ASL):c.718+14A>T http://identifiers.org/clinvar/260331 ^@ NM_014112.4(TRPS1):c.2700+29A>C http://identifiers.org/clinvar/263270 ^@ NM_203447.3(DOCK8):c.5581-18G>C http://identifiers.org/clinvar/260381 ^@ NM_014290.2(TDRD7):c.2079+7C>T http://identifiers.org/clinvar/256881 ^@ NM_001008211.1(OPTN):c.489A>G (p.Glu163=) http://identifiers.org/clinvar/257181 ^@ NM_001033855.2(DCLRE1C):c.780+10C>T http://identifiers.org/clinvar/260731 ^@ NM_016341.3(PLCE1):c.651A>G (p.Val217=) http://identifiers.org/clinvar/260481 ^@ NM_014956.4(CEP164):c.281G>A (p.Ser94Asn) http://identifiers.org/clinvar/260781 ^@ NM_016952.4(CDON):c.1051C>G (p.Pro351Ala) http://identifiers.org/clinvar/254692 ^@ NM_000017.3(ACADS):c.*21G>C http://identifiers.org/clinvar/262820 ^@ NM_172364.4(CACNA2D4):c.979A>G (p.Ile327Val) http://identifiers.org/clinvar/262220 ^@ NM_033124.4(CCDC65):c.505C>A (p.His169Asn) http://identifiers.org/clinvar/262570 ^@ NM_145064.2(STAC3):c.1023G>C (p.Ala341=) http://identifiers.org/clinvar/256681 ^@ NM_000552.4(VWF):c.4665A>C (p.Ala1555=) http://identifiers.org/clinvar/257131 ^@ NM_001024858.2(SPTB):c.5943C>T (p.Arg1981=) http://identifiers.org/clinvar/257531 ^@ NM_001130010.2(C15orf41):c.148-19G>T http://identifiers.org/clinvar/262370 ^@ NM_138477.2(CDAN1):c.2352+8C>T http://identifiers.org/clinvar/335617 ^@ NM_001029883.2(C2orf71):c.*982C>T http://identifiers.org/clinvar/332876 ^@ NM_133378.4(TTN):c.32930-9A>G http://identifiers.org/clinvar/335667 ^@ NM_001029883.2(C2orf71):c.867C>T (p.Thr289=) http://identifiers.org/clinvar/333076 ^@ NM_000090.3(COL3A1):c.*113C>T http://identifiers.org/clinvar/332776 ^@ NM_133378.4(TTN):c.68592T>C (p.Asp22864=) http://identifiers.org/clinvar/332926 ^@ NM_133378.4(TTN):c.12831A>C (p.Thr4277=) http://identifiers.org/clinvar/333226 ^@ NM_005259.2(MSTN):c.*493G>A http://identifiers.org/clinvar/333276 ^@ NM_007315.3(STAT1):c.1248C>T (p.Gly416=) http://identifiers.org/clinvar/333376 ^@ NM_001006657.1(WDR35):c.2869G>A (p.Glu957Lys) http://identifiers.org/clinvar/333126 ^@ NM_000393.4(COL5A2):c.*298G>A http://identifiers.org/clinvar/336317 ^@ NM_001430.4(EPAS1):c.*1614C>T http://identifiers.org/clinvar/335567 ^@ NM_144631.5(ZNF513):c.-203dupG http://identifiers.org/clinvar/336367 ^@ NM_139279.5(MCFD2):c.*892G>A http://identifiers.org/clinvar/333576 ^@ NM_020919.3(ALS2):c.*912A>G http://identifiers.org/clinvar/333626 ^@ NM_001204.6(BMPR2):c.-753C>T http://identifiers.org/clinvar/335717 ^@ NM_004304.4(ALK):c.72G>A (p.Gly24=) http://identifiers.org/clinvar/333326 ^@ NM_001006657.1(WDR35):c.*2836C>T http://identifiers.org/clinvar/336624 ^@ NM_001039348.2(EFEMP1):c.761-16_761-15dupTA http://identifiers.org/clinvar/333776 ^@ NM_005006.6(NDUFS1):c.*158T>C http://identifiers.org/clinvar/336824 ^@ NM_002056.3(GFPT1):c.*3021T>A http://identifiers.org/clinvar/333726 ^@ NM_001204.6(BMPR2):c.*7162delA http://identifiers.org/clinvar/333826 ^@ NM_014929.3(FASTKD2):c.*1270dupA http://identifiers.org/clinvar/334177 ^@ NM_000384.2(APOB):c.818+14T>C http://identifiers.org/clinvar/336474 ^@ NM_000145.3(FSHR):c.*563T>C http://identifiers.org/clinvar/336674 ^@ NM_002618.3(PEX13):c.*233G>T http://identifiers.org/clinvar/336774 ^@ NM_015910.5(WDPCP):c.-113C>A http://identifiers.org/clinvar/335367 ^@ NM_000182.4(HADHA):c.*405C>T http://identifiers.org/clinvar/335467 ^@ NM_194248.2(OTOF):c.-67G>A http://identifiers.org/clinvar/335517 ^@ NM_000221.2(KHK):c.*806G>A http://identifiers.org/clinvar/335767 ^@ NM_000379.3(XDH):c.3052-4C>T http://identifiers.org/clinvar/335817 ^@ NM_000348.3(SRD5A2):c.264C>G (p.Cys88Trp) http://identifiers.org/clinvar/335867 ^@ NM_014946.3(SPAST):c.*1777G>A http://identifiers.org/clinvar/335967 ^@ NM_005633.3(SOS1):c.*3918T>C http://identifiers.org/clinvar/357359 ^@ NM_138694.3(PKHD1):c.*3345T>A http://identifiers.org/clinvar/350922 ^@ NM_017415.2(KLHL3):c.*4257A>G http://identifiers.org/clinvar/351022 ^@ NM_006790.2(MYOT):c.335T>A (p.Ile112Asn) http://identifiers.org/clinvar/351072 ^@ NM_022464.4(SIL1):c.*68delC http://identifiers.org/clinvar/350972 ^@ NM_017415.2(KLHL3):c.*591_*594delTCTG http://identifiers.org/clinvar/351122 ^@ NM_199189.2(MATR3):c.305G>A (p.Arg102His) http://identifiers.org/clinvar/351372 ^@ NM_001018077.1(NR3C1):c.850A>G (p.Ile284Val) http://identifiers.org/clinvar/351172 ^@ NM_199189.2(MATR3):c.*1425C>G http://identifiers.org/clinvar/351422 ^@ NM_054027.4(ANKH):c.*3962T>C http://identifiers.org/clinvar/351322 ^@ NM_001018077.1(NR3C1):c.*3153C>T http://identifiers.org/clinvar/351522 ^@ NM_006846.3(SPINK5):c.1194C>T (p.Asn398=) http://identifiers.org/clinvar/351572 ^@ NM_024577.3(SH3TC2):c.*21955A>G http://identifiers.org/clinvar/351672 ^@ NM_024577.3(SH3TC2):c.*13293T>C http://identifiers.org/clinvar/351772 ^@ NM_024577.3(SH3TC2):c.*7269A>G http://identifiers.org/clinvar/351822 ^@ NM_024577.3(SH3TC2):c.*4511T>C http://identifiers.org/clinvar/359048 ^@ NM_004333.4(BRAF):c.1024A>G (p.Ile342Val) http://identifiers.org/clinvar/351922 ^@ NM_024577.3(SH3TC2):c.280-5C>T http://identifiers.org/clinvar/352022 ^@ NM_000112.3(SLC26A2):c.699+13G>T http://identifiers.org/clinvar/352070 ^@ NM_000112.3(SLC26A2):c.*3044G>A http://identifiers.org/clinvar/359498 ^@ NM_001101426.3(ISPD):c.*3196C>G http://identifiers.org/clinvar/352170 ^@ NM_005211.3(CSF1R):c.307+5G>A http://identifiers.org/clinvar/352220 ^@ NM_001135243.1(TCOF1):c.2842G>T (p.Ala948Ser) http://identifiers.org/clinvar/352120 ^@ NM_005211.3(CSF1R):c.*36A>C http://identifiers.org/clinvar/356509 ^@ NM_182548.3(LHFPL5):c.*459C>T http://identifiers.org/clinvar/356559 ^@ NM_001145717.1(PNPLA1):c.627C>T (p.His209=) http://identifiers.org/clinvar/352370 ^@ NM_000337.5(SGCD):c.*3420C>T http://identifiers.org/clinvar/360098 ^@ NM_133468.4(BMPER):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/360198 ^@ NM_000168.5(GLI3):c.*1007G>A http://identifiers.org/clinvar/357159 ^@ NM_012120.2(CD2AP):c.-167_-165delGAG http://identifiers.org/clinvar/357209 ^@ NM_012120.2(CD2AP):c.*498A>G http://identifiers.org/clinvar/353059 ^@ NM_014244.4(ADAMTS2):c.*1639C>T http://identifiers.org/clinvar/357309 ^@ NM_003221.3(TFAP2B):c.*1248G>T http://identifiers.org/clinvar/357509 ^@ NM_018100.3(EFHC1):c.*1045delTinsATATATATATATA http://identifiers.org/clinvar/357659 ^@ NM_000129.3(F13A1):c.*417G>T http://identifiers.org/clinvar/357809 ^@ NM_001851.4(COL9A1):c.1186C>A (p.Pro396Thr) http://identifiers.org/clinvar/357859 ^@ NM_014989.5(RIMS1):c.4259T>C (p.Val1420Ala) http://identifiers.org/clinvar/363936 ^@ NM_153704.5(TMEM67):c.*942G>A http://identifiers.org/clinvar/363836 ^@ NM_000067.2(CA2):c.648C>T (p.Ser216=) http://identifiers.org/clinvar/363886 ^@ NM_019098.4(CNGB3):c.212-3T>C http://identifiers.org/clinvar/364236 ^@ NM_014425.4(INVS):c.3099C>T (p.Asn1033=) http://identifiers.org/clinvar/364286 ^@ NM_001701.3(BAAT):c.-208C>T http://identifiers.org/clinvar/300289 ^@ NM_018055.4(NODAL):c.*722G>C http://identifiers.org/clinvar/364336 ^@ NM_005502.3(ABCA1):c.*2220T>A http://identifiers.org/clinvar/364386 ^@ NM_005502.3(ABCA1):c.5763T>C (p.Tyr1921=) http://identifiers.org/clinvar/300489 ^@ NM_022124.5(CDH23):c.*349A>G http://identifiers.org/clinvar/364486 ^@ NM_001079802.1(FKTN):c.-96T>C http://identifiers.org/clinvar/307393 ^@ NM_005996.3(TBX3):c.-417T>G http://identifiers.org/clinvar/300639 ^@ NM_004273.4(CHST3):c.*3022A>T http://identifiers.org/clinvar/364786 ^@ NM_018249.5(CDK5RAP2):c.128-10C>G http://identifiers.org/clinvar/307693 ^@ NM_025215.5(PUS1):c.-287G>C http://identifiers.org/clinvar/364836 ^@ NM_000177.4(GSN):c.*116_*117insGTG http://identifiers.org/clinvar/307743 ^@ NM_000834.3(GRIN2B):c.2866G>A (p.Glu956Lys) http://identifiers.org/clinvar/300889 ^@ NM_012330.3(KAT6B):c.4225G>A (p.Glu1409Lys) http://identifiers.org/clinvar/300989 ^@ NM_007055.3(POLR3A):c.*1945G>A http://identifiers.org/clinvar/364886 ^@ NM_002316.3(LMX1B):c.742-6A>T http://identifiers.org/clinvar/301239 ^@ NM_033100.3(CDHR1):c.1432G>A (p.Val478Ile) http://identifiers.org/clinvar/365086 ^@ NM_000118.3(ENG):c.1429-9_1429-6dupCCCA http://identifiers.org/clinvar/301339 ^@ NM_001080116.1(LDB3):c.*248G>A http://identifiers.org/clinvar/301389 ^@ NM_005271.4(GLUD1):c.1652A>G (p.Asn551Ser) http://identifiers.org/clinvar/301489 ^@ NM_000314.6(PTEN):c.*2415C>G http://identifiers.org/clinvar/309032 ^@ NM_003482.3(KMT2D):c.11168_11173dupTGCAGC (p.Gln3724_Gln3725insLeuGln) http://identifiers.org/clinvar/365486 ^@ NM_000368.4(TSC1):c.*920C>A http://identifiers.org/clinvar/309232 ^@ NM_000486.5(AQP2):c.70G>A (p.Val24Ile) http://identifiers.org/clinvar/298350 ^@ NM_000195.4(HPS1):c.307G>A (p.Gly103Arg) http://identifiers.org/clinvar/298400 ^@ NM_004376.6(COX15):c.*678G>T http://identifiers.org/clinvar/309382 ^@ NM_014191.3(SCN8A):c.*884A>C http://identifiers.org/clinvar/309432 ^@ NM_014191.3(SCN8A):c.*4953T>C http://identifiers.org/clinvar/309482 ^@ NM_000020.2(ACVRL1):c.*2347A>C http://identifiers.org/clinvar/302478 ^@ NM_001931.4(DLAT):c.*1375T>C http://identifiers.org/clinvar/302628 ^@ NM_174934.3(SCN4B):c.*961A>G http://identifiers.org/clinvar/302778 ^@ NM_005188.3(CBL):c.1094A>G (p.Gln365Arg) http://identifiers.org/clinvar/302878 ^@ NM_005188.3(CBL):c.*5987A>T http://identifiers.org/clinvar/366526 ^@ NM_001256054.2(C9orf72):c.620A>G (p.Asn207Ser) http://identifiers.org/clinvar/366576 ^@ NM_005802.4(TOPORS):c.-172G>A http://identifiers.org/clinvar/314265 ^@ NM_000428.2(LTBP2):c.5296G>T (p.Asp1766Tyr) http://identifiers.org/clinvar/340453 ^@ NM_006657.2(FTCD):c.-42T>C http://identifiers.org/clinvar/312676 ^@ NM_022489.3(INF2):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/312726 ^@ NM_000270.3(PNP):c.-83C>G http://identifiers.org/clinvar/322050 ^@ NM_144997.5(FLCN):c.*526T>C http://identifiers.org/clinvar/340604 ^@ NM_014339.6(IL17RA):c.1728C>T (p.Asp576=) http://identifiers.org/clinvar/322000 ^@ NM_002615.6(SERPINF1):c.215C>T (p.Thr72Met) http://identifiers.org/clinvar/322100 ^@ NM_016239.3(MYO15A):c.-327C>T http://identifiers.org/clinvar/312826 ^@ NM_001126106.2(SLC7A7):c.339A>C (p.Gly113=) http://identifiers.org/clinvar/340804 ^@ NM_017929.5(PEX26):c.*2070delG http://identifiers.org/clinvar/322350 ^@ NM_080669.5(SLC46A1):c.*3789C>A http://identifiers.org/clinvar/314815 ^@ NM_018319.3(TDP1):c.-230-14C>A http://identifiers.org/clinvar/341154 ^@ NM_000268.3(NF2):c.*2759G>A http://identifiers.org/clinvar/322550 ^@ NM_001045.5(SLC6A4):c.-482T>C http://identifiers.org/clinvar/314915 ^@ NM_004239.4(TRIP11):c.*383dupT http://identifiers.org/clinvar/322700 ^@ NM_145068.3(TRPV3):c.*2094G>A http://identifiers.org/clinvar/322750 ^@ NM_145068.3(TRPV3):c.*25dupG http://identifiers.org/clinvar/341454 ^@ NM_004737.5(LARGE1):c.-462A>T http://identifiers.org/clinvar/322650 ^@ NM_000286.2(PEX12):c.*297T>C http://identifiers.org/clinvar/322900 ^@ NM_004937.2(CTNS):c.*1680G>A http://identifiers.org/clinvar/315415 ^@ NM_144599.4(NIPA1):c.*519T>A http://identifiers.org/clinvar/323100 ^@ NM_002274.3(KRT13):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/367915 ^@ NM_194277.2(FRMD7):c.-102G>A http://identifiers.org/clinvar/314165 ^@ NM_005589.3(ALDH6A1):c.*155T>C http://identifiers.org/clinvar/368065 ^@ NM_000033.3(ABCD1):c.*870G>T http://identifiers.org/clinvar/316254 ^@ NM_000338.2(SLC12A1):c.381C>T (p.Asn127=) http://identifiers.org/clinvar/316354 ^@ NM_000138.4(FBN1):c.*314C>T http://identifiers.org/clinvar/316404 ^@ NM_014985.3(CEP152):c.*194G>A http://identifiers.org/clinvar/316454 ^@ NM_031226.2(CYP19A1):c.*1601G>A http://identifiers.org/clinvar/368465 ^@ NM_003179.2(SYP):c.877G>A (p.Gly293Ser) http://identifiers.org/clinvar/368615 ^@ NM_000206.2(IL2RG):c.*290T>C http://identifiers.org/clinvar/314615 ^@ NM_004863.3(SPTLC2):c.*2966G>A http://identifiers.org/clinvar/368715 ^@ NM_153252.4(BRWD3):c.*1703T>C http://identifiers.org/clinvar/316854 ^@ NM_005902.3(SMAD3):c.-240G>T http://identifiers.org/clinvar/324698 ^@ NM_031220.3(PITPNM3):c.*2357_*2360delAGAG http://identifiers.org/clinvar/324748 ^@ NM_031220.3(PITPNM3):c.1854G>A (p.Glu618=) http://identifiers.org/clinvar/317104 ^@ NM_022369.3(STRA6):c.1349C>A (p.Ala450Asp) http://identifiers.org/clinvar/314965 ^@ NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) http://identifiers.org/clinvar/324848 ^@ NM_000891.2(KCNJ2):c.*996C>T http://identifiers.org/clinvar/317204 ^@ NM_000137.2(FAH):c.90G>C (p.Pro30=) http://identifiers.org/clinvar/315315 ^@ NM_139057.3(ADAMTS17):c.616+7C>T http://identifiers.org/clinvar/317405 ^@ NM_000057.3(BLM):c.98+6T>G http://identifiers.org/clinvar/315515 ^@ NM_002420.5(TRPM1):c.2202C>T (p.Thr734=) http://identifiers.org/clinvar/325098 ^@ NM_207346.2(TSEN54):c.1530C>A (p.Ile510=) http://identifiers.org/clinvar/325148 ^@ NM_001005731.2(ITGB4):c.1667G>A (p.Arg556His) http://identifiers.org/clinvar/315215 ^@ NM_139057.3(ADAMTS17):c.*742C>T http://identifiers.org/clinvar/325448 ^@ NM_024599.5(RHBDF2):c.875C>T (p.Ser292Phe) http://identifiers.org/clinvar/325498 ^@ NM_001077620.2(PRCD):c.*1347C>T http://identifiers.org/clinvar/325548 ^@ NM_006640.4(SEPT9):c.656G>A (p.Arg219Gln) http://identifiers.org/clinvar/316304 ^@ NM_000138.4(FBN1):c.*2421C>A http://identifiers.org/clinvar/372020 ^@ NM_006231.3(POLE):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/371870 ^@ NM_000059.3(BRCA2):c.7805+23G>A http://identifiers.org/clinvar/373765 ^@ NM_003238.4(TGFB2):c.419delA (p.Asn140Metfs) http://identifiers.org/clinvar/373815 ^@ NM_020699.3(GATAD2B):c.432_435delAAGA (p.Glu144Aspfs) http://identifiers.org/clinvar/373715 ^@ NM_000393.4(COL5A2):c.3598G>A (p.Gly1200Ser) http://identifiers.org/clinvar/373615 ^@ NM_003280.2(TNNC1):c.153C>A (p.Asn51Lys) http://identifiers.org/clinvar/373015 ^@ NM_001101.3(ACTB):c.1092_1105dupGTCCGGCCCCTCCA (p.Ile369Serfs) http://identifiers.org/clinvar/373415 ^@ NM_000806.5(GABRA1):c.1297A>G (p.Ile433Val) http://identifiers.org/clinvar/372965 ^@ NM_001101.3(ACTB):c.1020G>C (p.Trp340Cys) http://identifiers.org/clinvar/372914 ^@ NM_001101.3(ACTB):c.616C>G (p.Arg206Gly) http://identifiers.org/clinvar/373465 ^@ NM_152419.2(HGSNAT):c.1102A>T (p.Lys368Ter) http://identifiers.org/clinvar/373115 ^@ NM_017780.3(CHD7):c.2977G>T (p.Asp993Tyr) http://identifiers.org/clinvar/373215 ^@ NM_001909.4(CTSD):c.770G>C (p.Gly257Ala) http://identifiers.org/clinvar/373065 ^@ NM_003482.3(KMT2D):c.8696delG (p.Gly2899Alafs) http://identifiers.org/clinvar/373565 ^@ NM_014191.3(SCN8A):c.632T>C (p.Val211Ala) http://identifiers.org/clinvar/373515 ^@ NM_144670.5(A2ML1):c.3233A>T (p.Asn1078Ile) http://identifiers.org/clinvar/373315 ^@ NM_001605.2(AARS):c.2089G>A (p.Val697Ile) http://identifiers.org/clinvar/372862 ^@ NM_021098.2(CACNA1H):c.1793C>T (p.Ala598Val) http://identifiers.org/clinvar/373365 ^@ NM_145239.2(PRRT2):c.985_987delATC (p.Ile329del) http://identifiers.org/clinvar/373665 ^@ NM_001256714.1(DNAAF3):c.1116+5G>C http://identifiers.org/clinvar/373165 ^@ NM_020884.4(MYH7B):c.4055G>A (p.Arg1352His) http://identifiers.org/clinvar/373265 ^@ NM_002230.2(JUP):c.401A>G (p.Gln134Arg) http://identifiers.org/clinvar/373865 ^@ NG_005905.2:g.(?_92501)_(92714_93868)del http://identifiers.org/clinvar/374018 ^@ NM_194248.2(OTOF):c.2677-2A>G http://identifiers.org/clinvar/373968 ^@ NM_001145853.1(WFS1):c.2437G>A (p.Val813Met) http://identifiers.org/clinvar/374068 ^@ NM_000165.4(GJA1):c.440T>C (p.Met147Thr) http://identifiers.org/clinvar/374118 ^@ NM_000138.4(FBN1):c.5416delT (p.Cys1806Valfs) http://identifiers.org/clinvar/373918 ^@ NM_001130823.2(DNMT1):c.391C>T (p.Pro131Ser) http://identifiers.org/clinvar/375413 ^@ NM_001033053.2(NLRP1):c.160G>A (p.Ala54Thr) http://identifiers.org/clinvar/385866 ^@ NM_003494.3(DYSF):c.-44C>T http://identifiers.org/clinvar/378110 ^@ NM_138395.3(MARS2):c.748C>T (p.Leu250=) http://identifiers.org/clinvar/390294 ^@ NM_015120.4(ALMS1):c.1551C>G (p.Asp517Glu) http://identifiers.org/clinvar/388755 ^@ NM_015560.2(OPA1):c.1212+9A>G http://identifiers.org/clinvar/387355 ^@ NM_002437.4(MPV17):c.*12T>G http://identifiers.org/clinvar/387955 ^@ NM_002880.3(RAF1):c.991-11A>G http://identifiers.org/clinvar/378465 ^@ NM_002880.3(RAF1):c.320+19A>G http://identifiers.org/clinvar/393033 ^@ NM_006514.3(SCN10A):c.446G>A (p.Arg149Gln) http://identifiers.org/clinvar/378310 ^@ NM_015560.2(OPA1):c.-10C>T http://identifiers.org/clinvar/378160 ^@ NM_000179.2(MSH6):c.-14T>C http://identifiers.org/clinvar/385616 ^@ NM_000179.2(MSH6):c.1074C>T (p.Asp358=) http://identifiers.org/clinvar/385666 ^@ NM_015340.3(LARS2):c.1383T>C (p.Ile461=) http://identifiers.org/clinvar/385766 ^@ NM_024582.4(FAT4):c.13548G>A (p.Leu4516=) http://identifiers.org/clinvar/382924 ^@ NM_032806.5(POMGNT2):c.450A>G (p.Pro150=) http://identifiers.org/clinvar/392833 ^@ NM_000258.2(MYL3):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/385416 ^@ NM_005051.2(QARS):c.2172T>C (p.Asp724=) http://identifiers.org/clinvar/379118 ^@ NM_006859.3(LIAS):c.-45T>C http://identifiers.org/clinvar/390394 ^@ NM_000142.4(FGFR3):c.-102-9C>T http://identifiers.org/clinvar/382674 ^@ NM_032446.2(MEGF10):c.1841-20G>A http://identifiers.org/clinvar/390694 ^@ NM_012208.3(HARS2):c.-32C>T http://identifiers.org/clinvar/382072 ^@ NM_013391.3(DMGDH):c.1518-16A>C http://identifiers.org/clinvar/379218 ^@ NM_006846.3(SPINK5):c.1431-75C>G http://identifiers.org/clinvar/382373 ^@ NM_181705.3(LYRM7):c.-16C>T http://identifiers.org/clinvar/388605 ^@ NM_033071.3(SYNE1):c.17109G>T (p.Leu5703=) http://identifiers.org/clinvar/388955 ^@ NM_000320.2(QDPR):c.296-5C>T http://identifiers.org/clinvar/381972 ^@ NM_005431.1(XRCC2):c.-10C>T http://identifiers.org/clinvar/388655 ^@ NM_001101.3(ACTB):c.280C>T (p.Leu94=) http://identifiers.org/clinvar/388505 ^@ NM_000535.6(PMS2):c.555C>G (p.Val185=) http://identifiers.org/clinvar/388905 ^@ NM_005045.3(RELN):c.864G>A (p.Lys288=) http://identifiers.org/clinvar/379268 ^@ NM_014141.5(CNTNAP2):c.2050C>T (p.Gln684Ter) http://identifiers.org/clinvar/393233 ^@ NM_000089.3(COL1A2):c.407G>A (p.Gly136Asp) http://identifiers.org/clinvar/378666 ^@ NM_001130438.2(SPTAN1):c.6864G>A (p.Thr2288=) http://identifiers.org/clinvar/388305 ^@ NM_003816.2(ADAM9):c.280G>A (p.Val94Ile) http://identifiers.org/clinvar/390094 ^@ NM_020822.2(KCNT1):c.2944T>C (p.Ser982Pro) http://identifiers.org/clinvar/385366 ^@ NM_020822.2(KCNT1):c.3450C>A (p.Ser1150=) http://identifiers.org/clinvar/388205 ^@ NM_004408.3(DNM1):c.747C>T (p.Thr249=) http://identifiers.org/clinvar/389005 ^@ NM_133497.3(KCNV2):c.920T>G (p.Met307Arg) http://identifiers.org/clinvar/378364 ^@ NM_032634.3(PIGO):c.3163T>C (p.Phe1055Leu) http://identifiers.org/clinvar/378768 ^@ NM_000368.4(TSC1):c.3045C>T (p.Asn1015=) http://identifiers.org/clinvar/382974 ^@ NM_000255.3(MUT):c.1333-18T>G http://identifiers.org/clinvar/382824 ^@ NM_004408.3(DNM1):c.1493+16G>C http://identifiers.org/clinvar/388105 ^@ NM_020822.2(KCNT1):c.1258C>T (p.Leu420=) http://identifiers.org/clinvar/391044 ^@ NM_006416.4(SLC35A1):c.429A>G (p.Leu143=) http://identifiers.org/clinvar/386166 ^@ NM_020822.2(KCNT1):c.2522+14G>A http://identifiers.org/clinvar/390044 ^@ NM_006059.3(LAMC3):c.-47C>G http://identifiers.org/clinvar/133008 ^@ NM_000540.2(RYR1):c.1122+52T>C http://identifiers.org/clinvar/133058 ^@ NM_000540.2(RYR1):c.14197T>G (p.Tyr4733Asp) http://identifiers.org/clinvar/133108 ^@ NM_000540.2(RYR1):c.1841G>T (p.Arg614Leu) http://identifiers.org/clinvar/133158 ^@ NM_000540.2(RYR1):c.6388G>A (p.Gly2130Arg) http://identifiers.org/clinvar/133208 ^@ NM_000540.2(RYR1):c.7528T>C (p.Tyr2510His) http://identifiers.org/clinvar/133284 ^@ NM_000546.5(TP53):c.460G>A (p.Gly154Ser) http://identifiers.org/clinvar/133350 ^@ NM_001300.5(KLF6):c.676+106G>A http://identifiers.org/clinvar/133400 ^@ NM_003820.3(TNFRSF14):c.305-476C>T http://identifiers.org/clinvar/133450 ^@ NM_007313.2(ABL1):c.797A>G (p.Lys266Arg) http://identifiers.org/clinvar/133500 ^@ NM_152424.3(AMER1):c.832G>T (p.Ala278Ser) http://identifiers.org/clinvar/133551 ^@ NM_006015.4(ARID1A):c.5336A>G (p.Glu1779Gly) http://identifiers.org/clinvar/133601 ^@ NM_015338.5(ASXL1):c.656G>T (p.Gly219Val) http://identifiers.org/clinvar/133651 ^@ NM_000489.4(ATRX):c.2701A>G (p.Ile901Val) http://identifiers.org/clinvar/133701 ^@ NM_000057.3(BLM):c.3613G>A (p.Val1205Ile) http://identifiers.org/clinvar/133755 ^@ NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) http://identifiers.org/clinvar/134498 ^@ NM_001077490.2(GNAS):c.9G>A (p.Ala3=) http://identifiers.org/clinvar/134548 ^@ NM_002227.3(JAK1):c.184A>G (p.Ile62Val) http://identifiers.org/clinvar/134598 ^@ NM_001291415.1(KDM6A):c.2888G>C (p.Ser963Thr) http://identifiers.org/clinvar/134649 ^@ NM_001127500.2(MET):c.71G>A (p.Gly24Glu) http://identifiers.org/clinvar/134700 ^@ NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) http://identifiers.org/clinvar/134751 ^@ NM_170606.2(KMT2C):c.5171G>T (p.Ser1724Ile) http://identifiers.org/clinvar/134801 ^@ NM_170606.2(KMT2C):c.9974G>T (p.Ser3325Ile) http://identifiers.org/clinvar/134955 ^@ NM_017617.4(NOTCH1):c.6898G>A (p.Gly2300Arg) http://identifiers.org/clinvar/135005 ^@ NM_018313.4(PBRM1):c.998A>G (p.Asn333Ser) http://identifiers.org/clinvar/135055 ^@ NM_000534.4(PMS1):c.1609G>A (p.Glu537Lys) http://identifiers.org/clinvar/135106 ^@ NM_000264.3(PTCH1):c.4219G>A (p.Gly1407Ser) http://identifiers.org/clinvar/135157 ^@ NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) http://identifiers.org/clinvar/135440 ^@ NM_000553.4(WRN):c.4015G>A (p.Val1339Ile) http://identifiers.org/clinvar/135490 ^@ NM_004628.4(XPC):c.1539G>C (p.Met513Ile) http://identifiers.org/clinvar/135540 ^@ NM_000135.2(FANCA):c.3934+59G>T http://identifiers.org/clinvar/135604 ^@ NM_002136.3(HNRNPA1):c.886T>C (p.Phe296Leu) http://identifiers.org/clinvar/135674 ^@ NM_001042498.2(SLC35A2):c.433_434delTA (p.Tyr145Profs) http://identifiers.org/clinvar/135726 ^@ NM_000038.5(APC):c.8416C>G (p.Pro2806Ala) http://identifiers.org/clinvar/135777 ^@ NM_000051.3(ATM):c.7785T>C (p.Asp2595=) http://identifiers.org/clinvar/135835 ^@ NM_000179.2(MSH6):c.2384T>C (p.Ile795Thr) http://identifiers.org/clinvar/135885 ^@ NM_000264.3(PTCH1):c.2866A>G (p.Met956Val) http://identifiers.org/clinvar/135935 ^@ NM_000535.6(PMS2):c.1368T>C (p.Ser456=) http://identifiers.org/clinvar/135987 ^@ NM_001128425.1(MUTYH):c.38C>T (p.Ala13Val) http://identifiers.org/clinvar/136037 ^@ NM_002485.4(NBN):c.1533T>G (p.Asn511Lys) http://identifiers.org/clinvar/136088 ^@ NM_007294.3(BRCA1):c.5074+14C>T http://identifiers.org/clinvar/136138 ^@ NM_024675.3(PALB2):c.722A>G (p.Asn241Ser) http://identifiers.org/clinvar/136198 ^@ NM_130838.1(UBE3A):c.717T>A (p.Tyr239Ter) http://identifiers.org/clinvar/136249 ^@ NM_020297.3(ABCC9):c.2475G>A (p.Ala825=) http://identifiers.org/clinvar/136300 ^@ NM_020247.4(COQ8A):c.731-9C>T http://identifiers.org/clinvar/136351 ^@ NM_000032.4(ALAS2):c.824-15C>T http://identifiers.org/clinvar/184051 ^@ NM_007294.3(BRCA1):c.5514G>T (p.Val1838=) http://identifiers.org/clinvar/186090 ^@ NM_007294.3(BRCA1):c.2398_2401delAAAT (p.Lys800Valfs) http://identifiers.org/clinvar/186240 ^@ NM_007294.3(BRCA1):c.1059G>C (p.Trp353Cys) http://identifiers.org/clinvar/185690 ^@ NM_007294.3(BRCA1):c.717_719delTCA (p.His239del) http://identifiers.org/clinvar/183950 ^@ NM_007294.3(BRCA1):c.133A>C (p.Lys45Gln) http://identifiers.org/clinvar/183850 ^@ NM_058216.2(RAD51C):c.336G>A (p.Gly112=) http://identifiers.org/clinvar/186692 ^@ NM_058216.2(RAD51C):c.779G>A (p.Arg260Gln) http://identifiers.org/clinvar/186440 ^@ NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) http://identifiers.org/clinvar/186490 ^@ NM_000546.5(TP53):c.465C>A (p.Thr155=) http://identifiers.org/clinvar/186290 ^@ NM_000546.5(TP53):c.102C>G (p.Pro34=) http://identifiers.org/clinvar/184001 ^@ NM_000455.4(STK11):c.594C>T (p.Ala198=) http://identifiers.org/clinvar/183800 ^@ NM_000455.4(STK11):c.648C>T (p.Ser216=) http://identifiers.org/clinvar/186892 ^@ NM_007194.3(CHEK2):c.1439C>T (p.Ala480Val) http://identifiers.org/clinvar/185740 ^@ NM_007194.3(CHEK2):c.601T>G (p.Phe201Val) http://identifiers.org/clinvar/187785 ^@ NM_030813.5(CLPB):c.1222A>G (p.Arg408Gly) http://identifiers.org/clinvar/187864 ^@ NM_014362.3(HIBCH):c.950G>A (p.Gly317Glu) http://identifiers.org/clinvar/187914 ^@ NM_004409.4(DMPK):c.*224_*226[122] http://identifiers.org/clinvar/187964 ^@ NM_004409.4(DMPK):c.*224_*226[352] http://identifiers.org/clinvar/188166 ^@ NM_000249.3(MLH1):c.1591G>A (p.Val531Met) http://identifiers.org/clinvar/188115 ^@ NM_001080463.1(DYNC2H1):c.3995T>G (p.Leu1332Arg) http://identifiers.org/clinvar/188376 ^@ NM_130799.2(MEN1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/188323 ^@ NM_015346.3(ZFYVE26):c.2887G>C (p.Val963Leu) http://identifiers.org/clinvar/188271 ^@ NM_032444.2(SLX4):c.2153T>G (p.Ile718Ser) http://identifiers.org/clinvar/188217 ^@ NM_000267.3(NF1):c.2294_2300delGCATTGA (p.Glu767Profs) http://identifiers.org/clinvar/188684 ^@ NM_001001430.2(TNNT2):c.376A>T (p.Arg126Trp) http://identifiers.org/clinvar/188584 ^@ NM_000256.3(MYBPC3):c.3491-2A>G http://identifiers.org/clinvar/188534 ^@ NM_000256.3(MYBPC3):c.700A>C (p.Thr234Pro) http://identifiers.org/clinvar/188434 ^@ NM_000059.3(BRCA2):c.6174delT (p.Phe2058Leufs) http://identifiers.org/clinvar/188634 ^@ NM_000257.3(MYH7):c.4353+17G>A http://identifiers.org/clinvar/188484 ^@ NM_000152.4(GAA):c.2237G>C (p.Trp746Ser) http://identifiers.org/clinvar/189036 ^@ NM_000016.5(ACADM):c.449_452delCTGA (p.Thr150Argfs) http://identifiers.org/clinvar/188985 ^@ NM_000030.2(AGXT):c.122G>T (p.Gly41Val) http://identifiers.org/clinvar/188885 ^@ NM_000050.4(ASS1):c.1030C>T (p.Arg344Ter) http://identifiers.org/clinvar/188834 ^@ NM_004937.2(CTNS):c.18_21delGACT (p.Thr7Phefs) http://identifiers.org/clinvar/188734 ^@ NM_004646.3(NPHS1):c.2335-1G>A http://identifiers.org/clinvar/188784 ^@ NM_000071.2(CBS):c.1566delG (p.Lys523Serfs) http://identifiers.org/clinvar/188935 ^@ NM_000383.3(AIRE):c.1249dupC (p.Leu417Profs) http://identifiers.org/clinvar/189380 ^@ NM_025132.3(WDR19):c.407-2A>G http://identifiers.org/clinvar/189526 ^@ NM_000314.6(PTEN):c.-1234C>G http://identifiers.org/clinvar/189454 ^@ NM_000314.6(PTEN):c.928_929insGTGCA (p.Asp310Glyfs) http://identifiers.org/clinvar/189576 ^@ NM_003159.2(CDKL5):c.(?_-253)_-162-27968del http://identifiers.org/clinvar/242602 ^@ NC_000018.9:g.76841645_78077248del1235604 http://identifiers.org/clinvar/229201 ^@ NM_020975.4(RET):c.-2C>A http://identifiers.org/clinvar/228501 ^@ NM_022124.5(CDH23):c.781A>C (p.Ile261Leu) http://identifiers.org/clinvar/229301 ^@ NM_005422.2(TECTA):c.4097C>T (p.Thr1366Met) http://identifiers.org/clinvar/229601 ^@ NM_153676.3(USH1C):c.152A>G (p.Asn51Ser) http://identifiers.org/clinvar/229101 ^@ NM_001277269.1(OTOG):c.7297A>G (p.Lys2433Glu) http://identifiers.org/clinvar/228901 ^@ NM_000257.3(MYH7):c.2242T>C (p.Ser748Pro) http://identifiers.org/clinvar/229251 ^@ NM_005982.3(SIX1):c.487C>G (p.Leu163Val) http://identifiers.org/clinvar/228401 ^@ NM_153700.2(STRC):c.1086C>A (p.Tyr362Ter) http://identifiers.org/clinvar/228601 ^@ NM_178452.5(DNAAF1):c.1499C>G (p.Pro500Arg) http://identifiers.org/clinvar/228951 ^@ NM_016239.3(MYO15A):c.4096G>A (p.Asp1366Asn) http://identifiers.org/clinvar/228751 ^@ NM_020433.4(JPH2):c.1640C>T (p.Ala547Val) http://identifiers.org/clinvar/228451 ^@ NM_001692.3(ATP6V1B1):c.664G>A (p.Ala222Thr) http://identifiers.org/clinvar/228701 ^@ NM_000169.2(GLA):c.797A>C (p.Asp266Ala) http://identifiers.org/clinvar/229001 ^@ NM_000260.3(MYO7A):c.2006G>A (p.Arg669Gln) http://identifiers.org/clinvar/229151 ^@ NM_000445.4(PLEC):c.6871C>T (p.Arg2291Cys) http://identifiers.org/clinvar/234295 ^@ NM_004895.4(NLRP3):c.230C>A (p.Ala77Glu) http://identifiers.org/clinvar/234135 ^@ NM_000535.6(PMS2):c.847A>C (p.Ser283Arg) http://identifiers.org/clinvar/234347 ^@ NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) http://identifiers.org/clinvar/234417 ^@ NM_000455.4(STK11):c.734+11C>T http://identifiers.org/clinvar/234518 ^@ NM_000214.2(JAG1):c.2418C>A (p.Cys806Ter) http://identifiers.org/clinvar/234467 ^@ NM_000116.4(TAZ):c.758G>A (p.Arg253Gln) http://identifiers.org/clinvar/233382 ^@ NM_003000.2(SDHB):c.642_642+6delGGTGAGG http://identifiers.org/clinvar/230692 ^@ NM_001128425.1(MUTYH):c.1290C>T (p.Pro430=) http://identifiers.org/clinvar/231642 ^@ NM_001128425.1(MUTYH):c.742G>A (p.Ala248Thr) http://identifiers.org/clinvar/231242 ^@ NM_001128425.1(MUTYH):c.256C>G (p.Leu86Val) http://identifiers.org/clinvar/232192 ^@ NM_000251.2(MSH2):c.1021C>G (p.Leu341Val) http://identifiers.org/clinvar/233132 ^@ NM_000179.2(MSH6):c.3542A>G (p.Asp1181Gly) http://identifiers.org/clinvar/233632 ^@ NM_000038.5(APC):c.1972G>C (p.Glu658Gln) http://identifiers.org/clinvar/231542 ^@ NM_000038.5(APC):c.2778T>C (p.Ser926=) http://identifiers.org/clinvar/233582 ^@ NM_000038.5(APC):c.3403T>C (p.Tyr1135His) http://identifiers.org/clinvar/263526 ^@ NM_002474.2(MYH11):c.546C>T (p.Ala182=) http://identifiers.org/clinvar/264334 ^@ NM_000363.4(TNNI3):c.250G>T (p.Glu84Ter) http://identifiers.org/clinvar/263425 ^@ NM_003098.2(SNTA1):c.555C>T (p.Val185=) http://identifiers.org/clinvar/263476 ^@ NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) http://identifiers.org/clinvar/264534 ^@ NM_001456.3(FLNA):c.3995A>G (p.Asp1332Gly) http://identifiers.org/clinvar/264634 ^@ NM_176787.4(PIGN):c.755A>T (p.Asp252Val) http://identifiers.org/clinvar/264698 ^@ NM_145331.2(MAP3K7):c.1535C>T (p.Pro512Leu) http://identifiers.org/clinvar/264749 ^@ NM_001242896.1(DEPDC5):c.161A>C (p.Gln54Pro) http://identifiers.org/clinvar/264954 ^@ NM_000059.3(BRCA2):c.1910-521C>A http://identifiers.org/clinvar/264904 ^@ NM_000059.3(BRCA2):c.7008-1388_7008-1387insTA http://identifiers.org/clinvar/264854 ^@ NM_007294.3(BRCA1):c.5194-403T>A http://identifiers.org/clinvar/264804 ^@ NM_007294.3(BRCA1):c.135-3390G>A http://identifiers.org/clinvar/265006 ^@ NM_000350.2(ABCA4):c.288C>A (p.Asn96Lys) http://identifiers.org/clinvar/265943 ^@ NM_174936.3(PCSK9):c.1355-56C>T http://identifiers.org/clinvar/265998 ^@ NM_000642.2(AGL):c.1282A>G (p.Arg428Gly) http://identifiers.org/clinvar/266075 ^@ NM_024715.3(TXNDC15):c.103+1G>A http://identifiers.org/clinvar/266125 ^@ NM_001273.3(CHD4):c.2552C>A (p.Ser851Tyr) http://identifiers.org/clinvar/266825 ^@ NM_000059.3(BRCA2):c.469_470insT (p.Lys157Ilefs) http://identifiers.org/clinvar/266925 ^@ NM_000059.3(BRCA2):c.613_614insTGAG (p.Ser205Metfs) http://identifiers.org/clinvar/266975 ^@ NM_000059.3(BRCA2):c.694dupT (p.Tyr232Leufs) http://identifiers.org/clinvar/266625 ^@ NM_000059.3(BRCA2):c.1287dupA (p.Asp430Argfs) http://identifiers.org/clinvar/266675 ^@ NM_000059.3(BRCA2):c.2086G>T (p.Glu696Ter) http://identifiers.org/clinvar/266725 ^@ NM_000059.3(BRCA2):c.2880delG (p.Lys960Asnfs) http://identifiers.org/clinvar/266775 ^@ NM_000059.3(BRCA2):c.3819dupT (p.Lys1274Terfs) http://identifiers.org/clinvar/266875 ^@ NM_000059.3(BRCA2):c.5365A>T (p.Lys1789Ter) http://identifiers.org/clinvar/267025 ^@ NM_000059.3(BRCA2):c.7624dupA (p.Thr2542Asnfs) http://identifiers.org/clinvar/267075 ^@ NM_000059.3(BRCA2):c.8348delC (p.Thr2783Ilefs) http://identifiers.org/clinvar/267125 ^@ NM_000059.3(BRCA2):c.8965delA (p.Ile2989Phefs) http://identifiers.org/clinvar/267175 ^@ NM_000059.3(BRCA2):c.9846dupT (p.Val3283Cysfs) http://identifiers.org/clinvar/266525 ^@ NM_007294.3(BRCA1):c.5131A>T (p.Lys1711Ter) http://identifiers.org/clinvar/266475 ^@ NM_007294.3(BRCA1):c.4408G>T (p.Glu1470Ter) http://identifiers.org/clinvar/266425 ^@ NM_007294.3(BRCA1):c.3985_3987delGAAinsTTTC (p.Glu1329Phefs) http://identifiers.org/clinvar/266325 ^@ NM_007294.3(BRCA1):c.2971A>T (p.Lys991Ter) http://identifiers.org/clinvar/266575 ^@ NM_007294.3(BRCA1):c.743_744insA (p.Thr249Hisfs) http://identifiers.org/clinvar/267245 ^@ NM_015247.2(CYLD):c.2108G>A (p.Arg703Lys) http://identifiers.org/clinvar/267320 ^@ NM_022162.2(NOD2):c.241C>G http://identifiers.org/clinvar/267393 ^@ c.8313-2A>C http://identifiers.org/clinvar/267632 ^@ NM_000059.3(BRCA2):c.-227-?_6841+?del http://identifiers.org/clinvar/267682 ^@ NM_000059.3(BRCA2):c.7436-1G>C http://identifiers.org/clinvar/267582 ^@ NM_007294.3(BRCA1):c.5194-1699_5277+1996delins236 http://identifiers.org/clinvar/267732 ^@ NM_024596.4(MCPH1):c.1561G>T (p.Glu521Ter) http://identifiers.org/clinvar/267811 ^@ 46;X;t(X;19)(p22.1;p13.3)dn http://identifiers.org/clinvar/267912 ^@ 46;XX;t(3;18;5;7)(p25;p11.2;q13.3;q32);t(9;18)(p22;q21)dn http://identifiers.org/clinvar/290904 ^@ NM_005603.4(ATP8B1):c.2286-2A>G http://identifiers.org/clinvar/290954 ^@ NM_004817.3(TJP2):c.1520+6T>C http://identifiers.org/clinvar/291004 ^@ NM_001142800.1(EYS):c.5645-8C>T http://identifiers.org/clinvar/291054 ^@ NM_000492.3(CFTR):c.1210-13_1210-10delGTTT http://identifiers.org/clinvar/291104 ^@ NM_002857.3(PEX19):c.162G>T (p.Ser54=) http://identifiers.org/clinvar/291154 ^@ NM_024408.3(NOTCH2):c.423G>A (p.Glu141=) http://identifiers.org/clinvar/291205 ^@ NM_032409.2(PINK1):c.31C>A (p.Leu11Met) http://identifiers.org/clinvar/291255 ^@ NM_000284.3(PDHA1):c.1045G>A (p.Ala349Thr) http://identifiers.org/clinvar/291420 ^@ NM_001918.3(DBT):c.*3521G>A http://identifiers.org/clinvar/291520 ^@ NM_015074.3(KIF1B):c.1203A>G (p.Ser401=) http://identifiers.org/clinvar/291470 ^@ NM_015074.3(KIF1B):c.364-10A>G http://identifiers.org/clinvar/291570 ^@ NM_015074.3(KIF1B):c.3318G>A (p.Thr1106=) http://identifiers.org/clinvar/291762 ^@ NM_007375.3(TARDBP):c.*2252A>G http://identifiers.org/clinvar/291662 ^@ NM_015074.3(KIF1B):c.*4325G>A http://identifiers.org/clinvar/291812 ^@ NM_006610.3(MASP2):c.159C>T (p.Pro53=) http://identifiers.org/clinvar/291712 ^@ NM_013296.4(GPSM2):c.*251T>C http://identifiers.org/clinvar/291912 ^@ NM_003051.3(SLC16A1):c.-92G>T http://identifiers.org/clinvar/292162 ^@ NM_005957.4(MTHFR):c.*4168A>C http://identifiers.org/clinvar/291862 ^@ NM_003051.3(SLC16A1):c.963C>T (p.Asn321=) http://identifiers.org/clinvar/292112 ^@ NM_138959.2(VANGL1):c.*6721A>G http://identifiers.org/clinvar/292412 ^@ NM_014874.3(MFN2):c.*1706T>G http://identifiers.org/clinvar/291962 ^@ NM_002524.4(NRAS):c.*1656C>T http://identifiers.org/clinvar/292062 ^@ NM_138959.2(VANGL1):c.*3123A>G http://identifiers.org/clinvar/292012 ^@ NM_138959.2(VANGL1):c.1045G>A (p.Glu349Lys) http://identifiers.org/clinvar/292212 ^@ NM_005957.4(MTHFR):c.*1018A>G http://identifiers.org/clinvar/292262 ^@ NM_000198.3(HSD3B2):c.621C>T (p.Asn207=) http://identifiers.org/clinvar/292312 ^@ NM_006623.3(PHGDH):c.543G>A (p.Glu181=) http://identifiers.org/clinvar/292362 ^@ NM_014874.3(MFN2):c.-367A>G http://identifiers.org/clinvar/292462 ^@ NM_005267.4(GJA8):c.58G>A (p.Val20Ile) http://identifiers.org/clinvar/292512 ^@ NM_004698.2(PRPF3):c.*228A>G http://identifiers.org/clinvar/292562 ^@ NM_019032.5(ADAMTSL4):c.2883C>G (p.Ala961=) http://identifiers.org/clinvar/295061 ^@ NM_000228.2(LAMB3):c.3448C>T (p.Leu1150=) http://identifiers.org/clinvar/295011 ^@ NM_032409.2(PINK1):c.*37A>T http://identifiers.org/clinvar/336167 ^@ NM_133259.3(LRPPRC):c.1300G>A (p.Gly434Ser) http://identifiers.org/clinvar/336217 ^@ NM_000341.3(SLC3A1):c.*131T>C http://identifiers.org/clinvar/336267 ^@ NM_001430.4(EPAS1):c.1824C>G (p.Phe608Leu) http://identifiers.org/clinvar/344303 ^@ NM_020166.4(MCCC1):c.2050-6_2050-5delCT http://identifiers.org/clinvar/335917 ^@ NM_000104.3(CYP1B1):c.*2151T>C http://identifiers.org/clinvar/344353 ^@ NM_005787.5(ALG3):c.777C>T (p.Ser259=) http://identifiers.org/clinvar/336017 ^@ NM_005633.3(SOS1):c.3347-3C>T http://identifiers.org/clinvar/344503 ^@ NM_015560.2(OPA1):c.*1610C>A http://identifiers.org/clinvar/336067 ^@ NM_022437.2(ABCG8):c.275G>A (p.Ser92Asn) http://identifiers.org/clinvar/336117 ^@ NM_133259.3(LRPPRC):c.*1584G>A http://identifiers.org/clinvar/336574 ^@ NM_001135659.2(NRXN1):c.-883T>C http://identifiers.org/clinvar/344803 ^@ NM_006371.4(CRTAP):c.104G>C (p.Ser35Thr) http://identifiers.org/clinvar/344853 ^@ NM_006371.4(CRTAP):c.*2585G>C http://identifiers.org/clinvar/344903 ^@ NM_000249.3(MLH1):c.-101C>G http://identifiers.org/clinvar/336424 ^@ NM_000251.2(MSH2):c.-43G>C http://identifiers.org/clinvar/345003 ^@ NM_001106.3(ACVR2B):c.*5587T>A http://identifiers.org/clinvar/336524 ^@ NM_001135659.2(NRXN1):c.*1195A>G http://identifiers.org/clinvar/345203 ^@ NM_018075.4(ANO10):c.-95delC http://identifiers.org/clinvar/344403 ^@ NM_003722.4(TP63):c.*638C>G http://identifiers.org/clinvar/336724 ^@ NM_032180.2(FAM161A):c.*752A>G http://identifiers.org/clinvar/345403 ^@ NM_020208.3(SLC6A20):c.1092A>T (p.Leu364=) http://identifiers.org/clinvar/344653 ^@ NM_003242.5(TGFBR2):c.-128C>G http://identifiers.org/clinvar/344953 ^@ NM_001106.3(ACVR2B):c.*2005C>T http://identifiers.org/clinvar/345053 ^@ NM_001106.3(ACVR2B):c.*9399T>C http://identifiers.org/clinvar/345103 ^@ NM_198056.2(SCN5A):c.*296G>A http://identifiers.org/clinvar/345153 ^@ NM_017875.2(SLC25A38):c.*310A>T http://identifiers.org/clinvar/345303 ^@ NM_182760.3(SUMF1):c.*471T>G http://identifiers.org/clinvar/345453 ^@ NM_024513.3(FYCO1):c.*2695_*2696insTT http://identifiers.org/clinvar/346842 ^@ NM_000306.3(POU1F1):c.456T>C (p.Asn152=) http://identifiers.org/clinvar/346942 ^@ NM_177976.3(ARL6):c.526T>C (p.Trp176Arg) http://identifiers.org/clinvar/347292 ^@ NM_153427.2(PITX2):c.*376_*378delGTT http://identifiers.org/clinvar/346142 ^@ NM_052859.3(RFT1):c.*2887G>A http://identifiers.org/clinvar/347442 ^@ NM_018699.3(PRDM5):c.849G>A (p.Gln283=) http://identifiers.org/clinvar/346192 ^@ NM_052859.3(RFT1):c.696+11C>T http://identifiers.org/clinvar/346392 ^@ NM_001457.3(FLNB):c.*1393G>A http://identifiers.org/clinvar/346742 ^@ NM_002942.4(ROBO2):c.*1915C>T http://identifiers.org/clinvar/358159 ^@ NM_022726.3(ELOVL4):c.-252G>A http://identifiers.org/clinvar/362297 ^@ NM_006765.3(TUSC3):c.-194_-192delTCT http://identifiers.org/clinvar/362347 ^@ NM_006765.3(TUSC3):c.*2363G>T http://identifiers.org/clinvar/358998 ^@ NM_005989.3(AKR1D1):c.*1484T>C http://identifiers.org/clinvar/362747 ^@ NM_001017420.2(ESCO2):c.*73_*76delTTTA http://identifiers.org/clinvar/362847 ^@ NM_000349.2(STAR):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/359348 ^@ NM_016203.3(PRKAG2):c.248C>T (p.Pro83Leu) http://identifiers.org/clinvar/359548 ^@ NM_001101426.3(ISPD):c.*2133A>G http://identifiers.org/clinvar/359698 ^@ NM_001277115.1(DNAH11):c.13398C>T (p.Pro4466=) http://identifiers.org/clinvar/359748 ^@ NM_032581.3(FAM126A):c.*1354A>G http://identifiers.org/clinvar/359848 ^@ NM_004403.2(DFNA5):c.685G>A (p.Asp229Asn) http://identifiers.org/clinvar/359898 ^@ NM_018947.5(CYCS):c.*2804C>T http://identifiers.org/clinvar/363986 ^@ NM_177965.3(C8orf37):c.*2017C>G http://identifiers.org/clinvar/364036 ^@ NM_001001557.3(GDF6):c.*249G>A http://identifiers.org/clinvar/364536 ^@ NM_003640.4(IKBKAP):c.*1351C>A http://identifiers.org/clinvar/364636 ^@ NM_000031.5(ALAD):c.*400G>A http://identifiers.org/clinvar/364736 ^@ NM_012210.3(TRIM32):c.*1077C>T http://identifiers.org/clinvar/365436 ^@ NM_000368.4(TSC1):c.*2829A>G http://identifiers.org/clinvar/356859 ^@ NM_014780.4(CUL7):c.88G>A (p.Val30Met) http://identifiers.org/clinvar/361747 ^@ NM_004519.3(KCNQ3):c.*7722T>A http://identifiers.org/clinvar/356959 ^@ NM_006502.2(POLH):c.*2074C>T http://identifiers.org/clinvar/361797 ^@ NM_004519.3(KCNQ3):c.*4982delA http://identifiers.org/clinvar/361847 ^@ NM_004519.3(KCNQ3):c.*1697C>G http://identifiers.org/clinvar/357109 ^@ NM_001024630.3(RUNX2):c.*1084C>A http://identifiers.org/clinvar/303278 ^@ NM_022370.3(ROBO3):c.3922G>A (p.Val1308Met) http://identifiers.org/clinvar/303428 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACATATA http://identifiers.org/clinvar/303578 ^@ NM_000220.4(KCNJ1):c.-14T>C http://identifiers.org/clinvar/367565 ^@ NM_000507.3(FBP1):c.-215G>C http://identifiers.org/clinvar/311776 ^@ NM_015087.4(SPG20):c.-253G>A http://identifiers.org/clinvar/312176 ^@ NM_014252.3(SLC25A15):c.225C>T (p.Ile75=) http://identifiers.org/clinvar/312226 ^@ NM_003701.3(TNFSF11):c.-4C>T http://identifiers.org/clinvar/312276 ^@ NM_003850.2(SUCLA2):c.-48G>A http://identifiers.org/clinvar/312326 ^@ NM_024570.3(RNASEH2B):c.-117C>G http://identifiers.org/clinvar/312426 ^@ NM_001004127.2(ALG11):c.*1049C>T http://identifiers.org/clinvar/312476 ^@ NM_052910.2(SLITRK1):c.*2043delT http://identifiers.org/clinvar/298750 ^@ NM_000494.3(COL17A1):c.415+2T>G http://identifiers.org/clinvar/367615 ^@ NM_000264.3(PTCH1):c.*3341T>C http://identifiers.org/clinvar/312526 ^@ NM_052910.2(SLITRK1):c.-729G>C http://identifiers.org/clinvar/364086 ^@ NM_000380.3(XPA):c.*203C>G http://identifiers.org/clinvar/364186 ^@ NM_004612.3(TGFBR1):c.*4493G>A http://identifiers.org/clinvar/313765 ^@ NM_000347.5(SPTB):c.1504C>T (p.Arg502Cys) http://identifiers.org/clinvar/313815 ^@ NM_002382.4(MAX):c.*92G>A http://identifiers.org/clinvar/305119 ^@ NM_004183.3(BEST1):c.213C>T (p.Ser71=) http://identifiers.org/clinvar/305219 ^@ NM_144585.3(SLC22A12):c.-417C>T http://identifiers.org/clinvar/305369 ^@ NM_032193.3(RNASEH2C):c.-89C>G http://identifiers.org/clinvar/305419 ^@ NM_053054.3(CATSPER1):c.2070C>T (p.Ala690=) http://identifiers.org/clinvar/314365 ^@ NM_001040108.1(MLH3):c.*957C>A http://identifiers.org/clinvar/314465 ^@ NM_052873.2(IFT43):c.-34G>T http://identifiers.org/clinvar/305469 ^@ NM_024649.4(BBS1):c.1194C>A (p.Ile398=) http://identifiers.org/clinvar/314565 ^@ NM_013382.5(POMT2):c.-124G>A http://identifiers.org/clinvar/305569 ^@ NM_006946.2(SPTBN2):c.3048C>T (p.Gly1016=) http://identifiers.org/clinvar/305619 ^@ NM_000920.3(PC):c.2719-5_2719-3delCTC http://identifiers.org/clinvar/314665 ^@ NM_004863.3(SPTLC2):c.1570-13T>C http://identifiers.org/clinvar/314715 ^@ NM_000369.2(TSHR):c.*1154dupT http://identifiers.org/clinvar/314765 ^@ NM_000153.3(GALC):c.-17G>A http://identifiers.org/clinvar/305819 ^@ NM_006019.3(TCIRG1):c.2232C>T (p.His744=) http://identifiers.org/clinvar/300239 ^@ NM_000417.2(IL2RA):c.*677G>A http://identifiers.org/clinvar/300389 ^@ NM_022124.5(CDH23):c.-258G>A http://identifiers.org/clinvar/300439 ^@ NM_022124.5(CDH23):c.4984C>T (p.Leu1662=) http://identifiers.org/clinvar/315365 ^@ NM_144599.4(NIPA1):c.*3127G>A http://identifiers.org/clinvar/300589 ^@ NM_004273.4(CHST3):c.*981A>T http://identifiers.org/clinvar/300689 ^@ NM_016065.3(MRPS16):c.*1503A>T http://identifiers.org/clinvar/309932 ^@ NM_004984.2(KIF5A):c.396+13C>T http://identifiers.org/clinvar/329727 ^@ NM_000554.5(CRX):c.*860C>T http://identifiers.org/clinvar/310032 ^@ NM_000552.4(VWF):c.8160G>A (p.Glu2720=) http://identifiers.org/clinvar/310132 ^@ NM_001038.5(SCNN1A):c.1766G>A (p.Arg589Gln) http://identifiers.org/clinvar/310182 ^@ NM_002076.3(GNS):c.*1580A>G http://identifiers.org/clinvar/311826 ^@ NM_001127217.2(SMAD9):c.*3543A>G http://identifiers.org/clinvar/310582 ^@ NM_020661.3(AICDA):c.29A>G (p.Lys10Arg) http://identifiers.org/clinvar/310637 ^@ NM_025114.3(CEP290):c.-96C>T http://identifiers.org/clinvar/312126 ^@ NM_020751.2(COG6):c.-21_-20insC http://identifiers.org/clinvar/310687 ^@ NM_002108.3(HAL):c.*756C>T http://identifiers.org/clinvar/312376 ^@ NM_000053.3(ATP7B):c.*111G>A http://identifiers.org/clinvar/312776 ^@ NM_001145.4(ANG):c.365C>T (p.Ala122Val) http://identifiers.org/clinvar/338713 ^@ NM_006420.2(ARFGEF2):c.*237A>G http://identifiers.org/clinvar/339014 ^@ NM_004738.4(VAPB):c.*5815G>A http://identifiers.org/clinvar/311726 ^@ NM_004795.3(KL):c.*1455A>G http://identifiers.org/clinvar/339114 ^@ NM_207034.2(EDN3):c.-268G>C http://identifiers.org/clinvar/311926 ^@ NM_207361.5(FREM2):c.-285C>G http://identifiers.org/clinvar/339414 ^@ NM_025219.2(DNAJC5):c.*2878T>C http://identifiers.org/clinvar/311976 ^@ NM_207361.5(FREM2):c.4255A>G (p.Ile1419Val) http://identifiers.org/clinvar/320907 ^@ NM_001127464.2(ZNF469):c.3388C>T (p.Pro1130Ser) http://identifiers.org/clinvar/339614 ^@ NM_000933.3(PLCB4):c.*1487G>C http://identifiers.org/clinvar/313715 ^@ NM_000347.5(SPTB):c.5294C>T (p.Ala1765Val) http://identifiers.org/clinvar/340303 ^@ NM_130445.3(COL18A1):c.*1203A>G http://identifiers.org/clinvar/312576 ^@ NM_005708.4(GPC6):c.*1297C>G http://identifiers.org/clinvar/328288 ^@ NM_006397.2(RNASEH2A):c.-16T>C http://identifiers.org/clinvar/328338 ^@ NM_024407.4(NDUFS7):c.322G>A (p.Val108Met) http://identifiers.org/clinvar/328488 ^@ NM_000215.3(JAK3):c.*448C>A http://identifiers.org/clinvar/326938 ^@ NM_001080467.2(MYO5B):c.*2705dupT http://identifiers.org/clinvar/368015 ^@ NM_000133.3(F9):c.*1048G>A http://identifiers.org/clinvar/327238 ^@ NM_001083962.1(TCF4):c.*4338delC http://identifiers.org/clinvar/327488 ^@ NM_005603.4(ATP8B1):c.1429+14G>A http://identifiers.org/clinvar/368515 ^@ NM_000084.4(CLCN5):c.*3495A>G http://identifiers.org/clinvar/329327 ^@ NM_003573.2(LTBP4):c.4112C>G (p.Pro1371Arg) http://identifiers.org/clinvar/368665 ^@ NM_001109878.1(TBX22):c.554C>T (p.Ser185Leu) http://identifiers.org/clinvar/329527 ^@ NM_000400.3(ERCC2):c.572C>T (p.Pro191Leu) http://identifiers.org/clinvar/368765 ^@ NM_024921.3(POF1B):c.*1173C>A http://identifiers.org/clinvar/329627 ^@ NM_025136.3(OPA3):c.*3278C>T http://identifiers.org/clinvar/329677 ^@ NM_025136.3(OPA3):c.*362T>C http://identifiers.org/clinvar/327888 ^@ NM_001130823.2(DNMT1):c.4204A>T (p.Ile1402Phe) http://identifiers.org/clinvar/329777 ^@ NM_000554.5(CRX):c.*2937T>C http://identifiers.org/clinvar/329827 ^@ NM_002103.4(GYS1):c.300+8G>A http://identifiers.org/clinvar/329877 ^@ NM_030973.3(MED25):c.-44C>T http://identifiers.org/clinvar/327988 ^@ NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) http://identifiers.org/clinvar/328388 ^@ NM_000435.2(NOTCH3):c.4348G>A (p.Ala1450Thr) http://identifiers.org/clinvar/329377 ^@ NM_000709.3(BCKDHA):c.*335G>A http://identifiers.org/clinvar/329427 ^@ NM_152296.4(ATP1A3):c.357C>T (p.Asn119=) http://identifiers.org/clinvar/329477 ^@ NM_212550.4(BLOC1S3):c.*31T>C http://identifiers.org/clinvar/329577 ^@ NM_025136.3(OPA3):c.*5888C>T http://identifiers.org/clinvar/338663 ^@ NM_000311.4(PRNP):c.*682A>G http://identifiers.org/clinvar/338914 ^@ NM_002591.3(PCK1):c.*361G>A http://identifiers.org/clinvar/339164 ^@ NM_017671.4(FERMT1):c.*2250C>T http://identifiers.org/clinvar/339214 ^@ NM_017671.4(FERMT1):c.1555G>C (p.Val519Leu) http://identifiers.org/clinvar/339564 ^@ NM_000933.3(PLCB4):c.1485C>T (p.Asp495=) http://identifiers.org/clinvar/340353 ^@ NM_001848.2(COL6A1):c.*797C>T http://identifiers.org/clinvar/338363 ^@ NM_153638.3(PANK2):c.1318C>T (p.Arg440Cys) http://identifiers.org/clinvar/338463 ^@ NM_000457.4(HNF4A):c.*1828G>A http://identifiers.org/clinvar/338513 ^@ NM_000308.3(CTSA):c.-322G>A http://identifiers.org/clinvar/338764 ^@ NM_020436.4(SALL4):c.2640G>A (p.Ser880=) http://identifiers.org/clinvar/340904 ^@ NM_004782.3(SNAP29):c.*3252T>G http://identifiers.org/clinvar/341004 ^@ NM_022081.5(HPS4):c.1680G>A (p.Pro560=) http://identifiers.org/clinvar/338964 ^@ NM_004738.4(VAPB):c.*2819A>G http://identifiers.org/clinvar/341054 ^@ NM_007194.3(CHEK2):c.*59C>T http://identifiers.org/clinvar/339064 ^@ NM_001001433.2(STX16):c.*270T>C http://identifiers.org/clinvar/341204 ^@ NM_000355.3(TCN2):c.877C>T (p.Leu293=) http://identifiers.org/clinvar/339264 ^@ NM_001853.3(COL9A3):c.79-14T>G http://identifiers.org/clinvar/339314 ^@ NM_001853.3(COL9A3):c.*154C>T http://identifiers.org/clinvar/339364 ^@ NM_025219.2(DNAJC5):c.*273C>G http://identifiers.org/clinvar/341354 ^@ NM_000362.4(TIMP3):c.*538G>T http://identifiers.org/clinvar/339464 ^@ NM_012469.3(PRPF6):c.120A>G (p.Ala40=) http://identifiers.org/clinvar/339514 ^@ NM_015192.3(PLCB1):c.2983G>A (p.Ala995Thr) http://identifiers.org/clinvar/339664 ^@ NM_000454.4(SOD1):c.-55C>G http://identifiers.org/clinvar/390794 ^@ NM_000083.2(CLCN1):c.1663C>T (p.His555Tyr) http://identifiers.org/clinvar/377958 ^@ NM_000238.3(KCNH2):c.2730G>A (p.Pro910=) http://identifiers.org/clinvar/391094 ^@ NM_000051.3(ATM):c.135G>A (p.Arg45=) http://identifiers.org/clinvar/389894 ^@ NM_017617.4(NOTCH1):c.2496G>A (p.Pro832=) http://identifiers.org/clinvar/378008 ^@ NM_000890.3(KCNJ5):c.192C>T (p.His64=) http://identifiers.org/clinvar/392133 ^@ NM_006077.3(MICU1):c.*1C>A http://identifiers.org/clinvar/382022 ^@ NM_000256.3(MYBPC3):c.655-15C>T http://identifiers.org/clinvar/387455 ^@ NM_007078.2(LDB3):c.-104G>A http://identifiers.org/clinvar/382874 ^@ NM_000445.4(PLEC):c.5163G>C (p.Leu1721=) http://identifiers.org/clinvar/386366 ^@ NM_000445.4(PLEC):c.2723C>T (p.Thr908Met) http://identifiers.org/clinvar/378918 ^@ NM_000314.6(PTEN):c.417A>G (p.Leu139=) http://identifiers.org/clinvar/392883 ^@ NM_000051.3(ATM):c.8757C>T (p.Gly2919=) http://identifiers.org/clinvar/385316 ^@ NM_000051.3(ATM):c.8850+5A>C http://identifiers.org/clinvar/382323 ^@ NM_000719.6(CACNA1C):c.3648C>T (p.Val1216=) http://identifiers.org/clinvar/392933 ^@ NM_001164277.1(SLC37A4):c.*11G>A http://identifiers.org/clinvar/379318 ^@ NM_001909.4(CTSD):c.*15G>A http://identifiers.org/clinvar/387905 ^@ NM_003977.3(AIP):c.226A>G (p.Ile76Val) http://identifiers.org/clinvar/390644 ^@ NM_007171.3(POMT1):c.606-12A>G http://identifiers.org/clinvar/388355 ^@ NM_001085372.2(UQCC3):c.*11G>A http://identifiers.org/clinvar/392783 ^@ NM_000075.3(CDK4):c.355-12C>T http://identifiers.org/clinvar/390444 ^@ NM_017617.4(NOTCH1):c.1099+9C>T http://identifiers.org/clinvar/382774 ^@ NM_000545.6(HNF1A):c.870C>T (p.Pro290=) http://identifiers.org/clinvar/379068 ^@ NM_006493.2(CLN5):c.320+9G>T http://identifiers.org/clinvar/388255 ^@ NM_021957.3(GYS2):c.1549+19G>A http://identifiers.org/clinvar/386116 ^@ NM_001376.4(DYNC1H1):c.5110T>C (p.Leu1704=) http://identifiers.org/clinvar/388005 ^@ NM_007327.3(GRIN1):c.2121G>A (p.Glu707=) http://identifiers.org/clinvar/385966 ^@ NM_000257.3(MYH7):c.3006C>T (p.Ala1002=) http://identifiers.org/clinvar/379168 ^@ NM_000136.2(FANCC):c.-18C>G http://identifiers.org/clinvar/382172 ^@ NM_000138.4(FBN1):c.1715-12T>C http://identifiers.org/clinvar/390194 ^@ NM_000059.3(BRCA2):c.6937+14T>G http://identifiers.org/clinvar/388455 ^@ NM_001376.4(DYNC1H1):c.12576A>G (p.Glu4192=) http://identifiers.org/clinvar/382423 ^@ NM_133647.1(SLC12A6):c.2268-11C>T http://identifiers.org/clinvar/381721 ^@ NM_174916.2(UBR1):c.1688C>A (p.Ala563Asp) http://identifiers.org/clinvar/390944 ^@ NM_002471.3(MYH6):c.1383G>A (p.Leu461=) http://identifiers.org/clinvar/378260 ^@ NM_002496.3(NDUFS8):c.*19C>T http://identifiers.org/clinvar/378415 ^@ NM_002693.2(POLG):c.2880C>T (p.Pro960=) http://identifiers.org/clinvar/383124 ^@ NM_016373.3(WWOX):c.1134C>T (p.Asn378=) http://identifiers.org/clinvar/378210 ^@ NM_002474.2(MYH11):c.*13A>G http://identifiers.org/clinvar/47431 ^@ NM_133378.4(TTN):c.7619G>A (p.Arg2540His) http://identifiers.org/clinvar/47481 ^@ NM_001256850.1(TTN):c.83562C>T (p.Leu27854=) http://identifiers.org/clinvar/47531 ^@ NM_133378.4(TTN):c.85663G>C (p.Val28555Leu) http://identifiers.org/clinvar/47581 ^@ NM_133378.4(TTN):c.89487T>G (p.Leu29829=) http://identifiers.org/clinvar/47631 ^@ NM_133378.4(TTN):c.93062-9C>T http://identifiers.org/clinvar/47681 ^@ NM_133378.4(TTN):c.97284C>T (p.Val32428=) http://identifiers.org/clinvar/47731 ^@ NM_133378.4(TTN):c.10360+1730A>G http://identifiers.org/clinvar/47781 ^@ NM_001256850.1(TTN):c.10361-5227T>C http://identifiers.org/clinvar/47831 ^@ NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) http://identifiers.org/clinvar/47881 ^@ NM_139212.3(HOPX):c.70G>A (p.Val24Ile) http://identifiers.org/clinvar/48334 ^@ NM_206883.2(SLC26A5):c.-13A>C http://identifiers.org/clinvar/24 ^@ NM_015600.4(ABHD12):c.337_338delGAinsTTT (p.Asp113Phefs) http://identifiers.org/clinvar/86 ^@ HPSE2, EX8-9DEL http://identifiers.org/clinvar/181 ^@ NM_000274.3(OAT):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/190 ^@ NM_001017995.2(SH3PXD2B):c.127C>T (p.Arg43Trp) http://identifiers.org/clinvar/208 ^@ NM_000285.3(PEPD):c.826G>A (p.Asp276Asn) http://identifiers.org/clinvar/424 ^@ NM_199069.1(NDUFAF3):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/456 ^@ NM_000097.5(CPOX):c.883C>G (p.His295Asp) http://identifiers.org/clinvar/465 ^@ NM_000035.3(ALDOB):c.524C>A (p.Ala175Asp) http://identifiers.org/clinvar/706 ^@ NM_000512.4(GALNS):c.776G>A (p.Arg259Gln) http://identifiers.org/clinvar/729 ^@ NM_014402.4(UQCRQ):c.134C>T (p.Ser45Phe) http://identifiers.org/clinvar/897 ^@ NM_000181.3(GUSB):c.1831C>T (p.Arg611Trp) http://identifiers.org/clinvar/967 ^@ NM_181714.3(LCA5):c.1476dupA (p.Pro493Thrfs) http://identifiers.org/clinvar/1438 ^@ NM_015697.7(COQ2):c.590G>A (p.Arg197His) http://identifiers.org/clinvar/1483 ^@ NM_000190.3(HMBS):c.849G>A (p.Trp283Ter) http://identifiers.org/clinvar/1855 ^@ D2HGDH, IVS4AS, A-G, -2 http://identifiers.org/clinvar/1945 ^@ NM_030957.3(ADAMTS10):c.1190+1G>A http://identifiers.org/clinvar/1990 ^@ NM_144966.5(FREM1):c.4318G>A (p.Gly1440Ser) http://identifiers.org/clinvar/2034 ^@ NM_017780.3(CHD7):c.2442+5G>C http://identifiers.org/clinvar/2125 ^@ NM_025265.3(TSEN2):c.926A>G (p.Tyr309Cys) http://identifiers.org/clinvar/2172 ^@ NM_022370.3(ROBO3):c.1082G>A (p.Gly361Glu) http://identifiers.org/clinvar/2217 ^@ NM_000551.3(VHL):c.481C>T (p.Arg161Ter) http://identifiers.org/clinvar/2262 ^@ CYBA, IVS4DS, G-A, +1 http://identifiers.org/clinvar/2308 ^@ NM_005609.3(PYGM):c.1725delA (p.Lys575Asnfs) http://identifiers.org/clinvar/2353 ^@ NM_007123.5(USH2A):c.4338_4339delCT (p.Cys1447Glnfs) http://identifiers.org/clinvar/2444 ^@ NM_000434.3(NEU1):c.272T>G (p.Leu91Arg) http://identifiers.org/clinvar/2490 ^@ NM_016630.6(SPG21):c.601dupA (p.Thr201Asnfs) http://identifiers.org/clinvar/2536 ^@ NM_001002020.2(PUS1):c.346C>T (p.Arg116Trp) http://identifiers.org/clinvar/2583 ^@ NM_000483.4(APOC2):c.142T>C (p.Trp48Arg) http://identifiers.org/clinvar/2721 ^@ NM_177986.4(DSG4):c.574T>C (p.Ser192Pro) http://identifiers.org/clinvar/2767 ^@ NM_024312.4(GNPTAB):c.2681G>A (p.Trp894Ter) http://identifiers.org/clinvar/2811 ^@ FRAS1, 1-BP INS, 5605T http://identifiers.org/clinvar/2857 ^@ NM_173076.2(ABCA12):c.4541G>A (p.Arg1514His) http://identifiers.org/clinvar/2902 ^@ NM_000419.4(ITGA2B):c.2870C>T (p.Ser957Leu) http://identifiers.org/clinvar/2948 ^@ RAI1, 29-BP DEL http://identifiers.org/clinvar/2994 ^@ NM_000543.4(SMPD1):c.880C>A (p.Gln294Lys) http://identifiers.org/clinvar/3040 ^@ NM_000051.3(ATM):c.7251_7253dupGAA (p.Lys2418_Arg2419insLys) http://identifiers.org/clinvar/10160 ^@ NM_000132.3(F8):c.364_365delGT (p.Val122Ilefs) http://identifiers.org/clinvar/10205 ^@ NM_000132.3(F8):c.1175C>T (p.Ser392Leu) http://identifiers.org/clinvar/10250 ^@ NM_000132.3(F8):c.2962_2963delAG (p.Ser988Trpfs) http://identifiers.org/clinvar/10296 ^@ NM_000132.3(F8):c.5882G>A (p.Trp1961Ter) http://identifiers.org/clinvar/10340 ^@ F8, EX10DEL http://identifiers.org/clinvar/10390 ^@ NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) http://identifiers.org/clinvar/10438 ^@ NM_001097642.2(GJB1):c.194A>G (p.Tyr65Cys) http://identifiers.org/clinvar/10486 ^@ NM_000202.7(IDS):c.1327C>T (p.Arg443Ter) http://identifiers.org/clinvar/10531 ^@ NM_000292.2(PHKA2):c.3614C>T (p.Pro1205Leu) http://identifiers.org/clinvar/10577 ^@ NM_000133.3(F9):c.287A>C (p.Gln96Pro) http://identifiers.org/clinvar/10621 ^@ F9, PHE378LEU http://identifiers.org/clinvar/10667 ^@ NM_000133.3(F9):c.540_541delAG (p.Arg180Serfs) http://identifiers.org/clinvar/10712 ^@ NM_001008222.2(ZDHHC9):c.448C>T (p.Pro150Ser) http://identifiers.org/clinvar/10758 ^@ GLA, EX1-2DEL http://identifiers.org/clinvar/10802 ^@ NM_153252.4(BRWD3):c.3325+1G>T http://identifiers.org/clinvar/10848 ^@ AVPR2, 1-BP DEL, 102G http://identifiers.org/clinvar/11451 ^@ IKBKG, 10-BP INS, NT127 http://identifiers.org/clinvar/11502 ^@ NM_003159.2(CDKL5):c.119C>T (p.Ala40Val) http://identifiers.org/clinvar/11553 ^@ NM_001159702.2(FHL1):c.458G>A (p.Cys153Tyr) http://identifiers.org/clinvar/11603 ^@ NM_178152.2(DCX):c.139A>C (p.Ser47Arg) http://identifiers.org/clinvar/11653 ^@ NM_004586.2(RPS6KA3):c.244G>T (p.Val82Phe) http://identifiers.org/clinvar/11704 ^@ NM_005629.3(SLC6A8):c.1473C>G (p.Cys491Trp) http://identifiers.org/clinvar/11755 ^@ NM_001110556.1(FLNA):c.620C>T (p.Pro207Leu) http://identifiers.org/clinvar/11806 ^@ NM_001127899.3(CLCN5):c.380G>T (p.Gly127Val) http://identifiers.org/clinvar/11856 ^@ NM_000260.3(MYO7A):c.1797G>A (p.Met599Ile) http://identifiers.org/clinvar/11956 ^@ HMGCL, 930-BP DEL, EX3-6DEL http://identifiers.org/clinvar/12008 ^@ NM_000151.3(G6PC):c.562G>C (p.Gly188Arg) http://identifiers.org/clinvar/12108 ^@ NM_000587.2(C7):c.1135G>C (p.Gly379Arg) http://identifiers.org/clinvar/12761 ^@ SURF1, 1-BP INS, 882T http://identifiers.org/clinvar/12811 ^@ NC_000012.12:g.88934558T>C http://identifiers.org/clinvar/12861 ^@ SPTA1, EX5DEL, SVA RETROTRANSPOSON INS http://identifiers.org/clinvar/12912 ^@ NM_152296.4(ATP1A3):c.2273T>G (p.Ile758Ser) http://identifiers.org/clinvar/12962 ^@ NM_001035.2(RYR2):c.12602A>G (p.Gln4201Arg) http://identifiers.org/clinvar/13013 ^@ NM_000539.3(RHO):c.68C>A (p.Pro23His) http://identifiers.org/clinvar/13064 ^@ RHAG, IVS7, G-A, +1 http://identifiers.org/clinvar/13115 ^@ NM_000329.2(RPE65):c.271C>T (p.Arg91Trp) http://identifiers.org/clinvar/13166 ^@ PRPH2, 2-BP DEL http://identifiers.org/clinvar/13217 ^@ BCHE, VAL142MET http://identifiers.org/clinvar/13268 ^@ NM_000141.4(FGFR2):c.1032G>A (p.Ala344=) http://identifiers.org/clinvar/13319 ^@ PROS1, IVS10DS, G-A, +5 http://identifiers.org/clinvar/13369 ^@ PSAP, 3-BP DEL, 207TGT http://identifiers.org/clinvar/13423 ^@ NM_000371.3(TTR):c.311T>G (p.Ile104Ser) http://identifiers.org/clinvar/13475 ^@ NM_000219.5(KCNE1):c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro) http://identifiers.org/clinvar/13525 ^@ PKD2, 2-BP DEL/1-BP INS, NT1934 http://identifiers.org/clinvar/38277 ^@ NM_000155.3(GALT):c.815G>A (p.Arg272His) http://identifiers.org/clinvar/37482 ^@ NM_007294.3(BRCA1):c.2702T>C (p.Phe901Ser) http://identifiers.org/clinvar/37540 ^@ NM_007294.3(BRCA1):c.3689T>G (p.Leu1230Ter) http://identifiers.org/clinvar/37593 ^@ NM_007294.3(BRCA1):c.4456A>T (p.Ser1486Cys) http://identifiers.org/clinvar/37645 ^@ NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) http://identifiers.org/clinvar/37702 ^@ NM_007294.3(BRCA1):c.81-14C>T http://identifiers.org/clinvar/37753 ^@ NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) http://identifiers.org/clinvar/37807 ^@ NM_000059.3(BRCA2):c.2918C>T (p.Ser973Leu) http://identifiers.org/clinvar/37858 ^@ NM_000059.3(BRCA2):c.3808_3810delGTT (p.Val1270del) http://identifiers.org/clinvar/37912 ^@ NM_000059.3(BRCA2):c.4631dupA (p.Asn1544Lysfs) http://identifiers.org/clinvar/37965 ^@ NM_000059.3(BRCA2):c.5436delA (p.Glu1812Aspfs) http://identifiers.org/clinvar/38016 ^@ NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) http://identifiers.org/clinvar/38071 ^@ NM_000059.3(BRCA2):c.6875A>G (p.Glu2292Gly) http://identifiers.org/clinvar/38121 ^@ NM_000059.3(BRCA2):c.784G>A (p.Ala262Thr) http://identifiers.org/clinvar/38171 ^@ NM_000059.3(BRCA2):c.8593T>G (p.Leu2865Val) http://identifiers.org/clinvar/38221 ^@ NM_000059.3(BRCA2):c.9235delG (p.Val3079Phefs) http://identifiers.org/clinvar/38335 ^@ NM_001146040.1(GLRA1):c.921delT (p.Tyr307Terfs) http://identifiers.org/clinvar/38393 ^@ NM_006796.2(AFG3L2):c.2098G>A (p.Glu700Lys) http://identifiers.org/clinvar/38454 ^@ NM_181882.2(PRX):c.247delC (p.Leu83Cysfs) http://identifiers.org/clinvar/38773 ^@ NM_000495.4(COL4A5):c.3107-4A>G http://identifiers.org/clinvar/38886 ^@ NM_000553.4(WRN):c.2089-3024A>G http://identifiers.org/clinvar/38947 ^@ NM_001363.4(DKC1):c.200C>T (p.Thr67Ile) http://identifiers.org/clinvar/38998 ^@ NM_004614.4(TK2):c.8dupT (p.Trp4Valfs) http://identifiers.org/clinvar/39049 ^@ NM_024312.4(GNPTAB):c.2275_2276delAA (p.Asn759Terfs) http://identifiers.org/clinvar/39101 ^@ NM_198253.2(TERT):c.1456C>T (p.Arg486Cys) http://identifiers.org/clinvar/39206 ^@ NM_198578.3(LRRK2):c.5183G>A (p.Arg1728His) http://identifiers.org/clinvar/40342 ^@ NM_004333.4(BRAF):c.399A>G (p.Ser133=) http://identifiers.org/clinvar/40416 ^@ NM_005188.3(CBL):c.1991T>C (p.Ile664Thr) http://identifiers.org/clinvar/40484 ^@ NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) http://identifiers.org/clinvar/40541 ^@ NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) http://identifiers.org/clinvar/40603 ^@ NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) http://identifiers.org/clinvar/40673 ^@ NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) http://identifiers.org/clinvar/40760 ^@ NM_002755.3(MAP2K1):c.1023-8C>T http://identifiers.org/clinvar/40890 ^@ NM_001242.4(CD27):c.158G>A (p.Cys53Tyr) http://identifiers.org/clinvar/41026 ^@ NM_000530.7(MPZ):c.347A>G (p.Asn116Ser) http://identifiers.org/clinvar/41082 ^@ NM_003611.2(OFD1):c.1452_1458delAGAACTA (p.Lys484Asnfs) http://identifiers.org/clinvar/41138 ^@ NM_003611.2(OFD1):c.675delC (p.Glu226Argfs) http://identifiers.org/clinvar/41190 ^@ NM_003977.3(AIP):c.591G>A (p.Glu197=) http://identifiers.org/clinvar/51355 ^@ NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter) http://identifiers.org/clinvar/51405 ^@ NM_000059.3(BRCA2):c.3146delA (p.Asn1049Ilefs) http://identifiers.org/clinvar/51457 ^@ NM_000059.3(BRCA2):c.3403T>C (p.Tyr1135His) http://identifiers.org/clinvar/51508 ^@ NM_000059.3(BRCA2):c.36delT (p.Phe12Leufs) http://identifiers.org/clinvar/51559 ^@ NM_000059.3(BRCA2):c.3909C>A (p.Gly1303=) http://identifiers.org/clinvar/51610 ^@ NM_000059.3(BRCA2):c.4171delG (p.Glu1391Lysfs) http://identifiers.org/clinvar/51662 ^@ NM_000059.3(BRCA2):c.4535delG (p.Arg1512Leufs) http://identifiers.org/clinvar/51714 ^@ NM_000059.3(BRCA2):c.4780delA (p.Met1594Cysfs) http://identifiers.org/clinvar/51765 ^@ NM_000059.3(BRCA2):c.5096A>G (p.Asp1699Gly) http://identifiers.org/clinvar/51816 ^@ NM_000059.3(BRCA2):c.5207_5208delAA (p.Gln1736Argfs) http://identifiers.org/clinvar/51869 ^@ NM_000059.3(BRCA2):c.5471delA (p.Asn1824Metfs) http://identifiers.org/clinvar/51922 ^@ NM_000059.3(BRCA2):c.572delAinsCT (p.Asp191Alafs) http://identifiers.org/clinvar/51973 ^@ NM_000059.3(BRCA2):c.5959C>T (p.Gln1987Ter) http://identifiers.org/clinvar/52024 ^@ NM_000059.3(BRCA2):c.6172T>A (p.Phe2058Ile) http://identifiers.org/clinvar/52077 ^@ NM_000059.3(BRCA2):c.6382A>T (p.Lys2128Ter) http://identifiers.org/clinvar/52129 ^@ NM_000059.3(BRCA2):c.6568G>A (p.Val2190Ile) http://identifiers.org/clinvar/52180 ^@ NM_000059.3(BRCA2):c.6768T>A (p.Cys2256Ter) http://identifiers.org/clinvar/52231 ^@ NM_000059.3(BRCA2):c.6986C>T (p.Pro2329Leu) http://identifiers.org/clinvar/52282 ^@ NM_000059.3(BRCA2):c.7187dupT (p.Leu2396Phefs) http://identifiers.org/clinvar/52332 ^@ NM_000059.3(BRCA2):c.743C>G (p.Ala248Gly) http://identifiers.org/clinvar/52382 ^@ NM_000059.3(BRCA2):c.767_768delCA (p.Thr256Lysfs) http://identifiers.org/clinvar/52433 ^@ NM_000059.3(BRCA2):c.7908T>A (p.Cys2636Ter) http://identifiers.org/clinvar/52483 ^@ NM_000059.3(BRCA2):c.8042_8043delCA (p.Thr2681Serfs) http://identifiers.org/clinvar/52533 ^@ NM_000059.3(BRCA2):c.8234dupT (p.Thr2746Aspfs) http://identifiers.org/clinvar/52584 ^@ NM_000059.3(BRCA2):c.8428A>G (p.Ser2810Gly) http://identifiers.org/clinvar/53490 ^@ NM_000492.3(CFTR):c.2440C>T (p.Gln814Ter) http://identifiers.org/clinvar/53540 ^@ NM_000492.3(CFTR):c.2669A>G (p.Gln890Arg) http://identifiers.org/clinvar/53590 ^@ NM_000492.3(CFTR):c.2908G>C (p.Gly970Arg) http://identifiers.org/clinvar/53641 ^@ NM_000492.3(CFTR):c.3059T>A (p.Val1020Glu) http://identifiers.org/clinvar/53949 ^@ NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) http://identifiers.org/clinvar/53999 ^@ NM_000492.3(CFTR):c.550delC (p.Leu184Phefs) http://identifiers.org/clinvar/54049 ^@ NM_000492.3(CFTR):c.731T>A (p.Met244Lys) http://identifiers.org/clinvar/54101 ^@ NM_007294.3(BRCA1):c.1012A>T (p.Lys338Ter) http://identifiers.org/clinvar/54151 ^@ NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser) http://identifiers.org/clinvar/54201 ^@ NM_007294.3(BRCA1):c.1323_1324delAT (p.Ile441Metfs) http://identifiers.org/clinvar/54251 ^@ NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) http://identifiers.org/clinvar/54302 ^@ NM_007294.3(BRCA1):c.1595_1601delTAAATCA (p.Ile532Argfs) http://identifiers.org/clinvar/54352 ^@ NM_007294.3(BRCA1):c.1793T>G (p.Leu598Ter) http://identifiers.org/clinvar/54403 ^@ NM_007294.3(BRCA1):c.1932T>G (p.Cys644Trp) http://identifiers.org/clinvar/54453 ^@ NM_007294.3(BRCA1):c.2079C>T (p.Asp693=) http://identifiers.org/clinvar/54503 ^@ NM_007294.3(BRCA1):c.2215A>T (p.Lys739Ter) http://identifiers.org/clinvar/54553 ^@ NM_007294.3(BRCA1):c.2389delG (p.Glu797Asnfs) http://identifiers.org/clinvar/54603 ^@ NM_007294.3(BRCA1):c.2564_2565insTTGAT (p.Gln855Hisfs) http://identifiers.org/clinvar/54653 ^@ NM_007294.3(BRCA1):c.2702_2703delTT (p.Phe901Terfs) http://identifiers.org/clinvar/54703 ^@ NM_007294.3(BRCA1):c.2869C>T (p.Gln957Ter) http://identifiers.org/clinvar/54753 ^@ NM_007294.3(BRCA1):c.302-2delA http://identifiers.org/clinvar/54803 ^@ NM_007294.3(BRCA1):c.3228A>T (p.Arg1076Ser) http://identifiers.org/clinvar/54853 ^@ NM_007294.3(BRCA1):c.3346G>C (p.Val1116Leu) http://identifiers.org/clinvar/55006 ^@ NM_007294.3(BRCA1):c.3785C>A (p.Ser1262Ter) http://identifiers.org/clinvar/55056 ^@ NM_007294.3(BRCA1):c.3940G>A (p.Asp1314Asn) http://identifiers.org/clinvar/55107 ^@ NM_007294.3(BRCA1):c.4122_4123delTG (p.Ser1374Argfs) http://identifiers.org/clinvar/55158 ^@ NM_007294.3(BRCA1):c.4262A>T (p.His1421Leu) http://identifiers.org/clinvar/55209 ^@ NM_007294.3(BRCA1):c.4480G>T (p.Glu1494Ter) http://identifiers.org/clinvar/55259 ^@ NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) http://identifiers.org/clinvar/55310 ^@ NM_007294.3(BRCA1):c.4893T>C (p.Ser1631=) http://identifiers.org/clinvar/56067 ^@ NM_000170.2(GLDC):c.2267_2269delTCT (p.Phe756del) http://identifiers.org/clinvar/56121 ^@ NM_000274.3(OAT):c.272G>A (p.Gly91Glu) http://identifiers.org/clinvar/56173 ^@ NM_000170.2(GLDC):c.635G>A (p.Arg212Lys) http://identifiers.org/clinvar/56223 ^@ NM_000383.3(AIRE):c.932G>A (p.Cys311Tyr) http://identifiers.org/clinvar/56274 ^@ NM_001042432.1(CLN3):c.482C>G (p.Ser161Ter) http://identifiers.org/clinvar/56326 ^@ NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu) http://identifiers.org/clinvar/56376 ^@ NM_001126105.2(SLC7A7):c.713C>T (p.Ser238Phe) http://identifiers.org/clinvar/56428 ^@ NM_004646.3(NPHS1):c.1135_1136delCG (p.Arg379Alafs) http://identifiers.org/clinvar/56478 ^@ NM_004646.3(NPHS1):c.2500G>T (p.Val834Phe) http://identifiers.org/clinvar/56528 ^@ NM_006493.2(CLN5):c.1083delT (p.Phe361Leufs) http://identifiers.org/clinvar/56581 ^@ NM_017739.3(POMGNT1):c.1350_1354delCTGGG (p.Trp451Alafs) http://identifiers.org/clinvar/56637 ^@ NM_017890.4(VPS13B):c.11556dupT (p.Val3853Cysfs) http://identifiers.org/clinvar/56687 ^@ NM_017890.4(VPS13B):c.7504+1G>A http://identifiers.org/clinvar/56737 ^@ NM_025114.3(CEP290):c.381_382delAGinsT (p.Lys127Asnfs) http://identifiers.org/clinvar/56802 ^@ NM_001081.3(CUBN):c.3330-439C>G http://identifiers.org/clinvar/56995 ^@ GRCh38/hg38 11p13(chr11:33031527-33620145)x3 http://identifiers.org/clinvar/57049 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 http://identifiers.org/clinvar/57104 ^@ GRCh38/hg38 8p23.1(chr8:7411297-8273167)x1 http://identifiers.org/clinvar/57157 ^@ GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 http://identifiers.org/clinvar/57208 ^@ GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1 http://identifiers.org/clinvar/57261 ^@ GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 http://identifiers.org/clinvar/57314 ^@ GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1 http://identifiers.org/clinvar/57367 ^@ GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1 http://identifiers.org/clinvar/127270 ^@ NM_207036.1(TCF12):c.1071delG (p.Ser358Glnfs) http://identifiers.org/clinvar/127321 ^@ NM_000038.5(APC):c.7808A>G (p.Glu2603Gly) http://identifiers.org/clinvar/127371 ^@ NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) http://identifiers.org/clinvar/127421 ^@ NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) http://identifiers.org/clinvar/127472 ^@ NM_000057.3(BLM):c.1097T>C (p.Ile366Thr) http://identifiers.org/clinvar/127522 ^@ NM_000077.4(CDKN2A):c.-25C>T http://identifiers.org/clinvar/127572 ^@ NM_000179.2(MSH6):c.2511C>G (p.His837Gln) http://identifiers.org/clinvar/127623 ^@ NM_000249.3(MLH1):c.945C>G (p.His315Gln) http://identifiers.org/clinvar/127679 ^@ NM_000314.6(PTEN):c.-904C>A http://identifiers.org/clinvar/127732 ^@ NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly) http://identifiers.org/clinvar/127782 ^@ NM_000535.6(PMS2):c.2396G>A (p.Arg799Gln) http://identifiers.org/clinvar/161432 ^@ NC_000003.12:g.87310484C>T http://identifiers.org/clinvar/161638 ^@ NM_005683.3(GPR55):c.941C>T (p.Thr314Ile) http://identifiers.org/clinvar/161538 ^@ NM_001146688.1(KDM3A):c.2685+6_2685+9delTGTT http://identifiers.org/clinvar/161688 ^@ NM_014991.4(WDFY3):c.2630C>A (p.Ala877Asp) http://identifiers.org/clinvar/161588 ^@ NM_001982.3(ERBB3):c.2802G>C (p.Gln934His) http://identifiers.org/clinvar/161738 ^@ NM_020818.4(UNC79):c.3797C>T (p.Thr1266Met) http://identifiers.org/clinvar/161838 ^@ NM_178543.4(ENPP7):c.68C>T (p.Pro23Leu) http://identifiers.org/clinvar/161488 ^@ NM_001007525.4(NWD1):c.3668A>G (p.Asn1223Ser) http://identifiers.org/clinvar/161788 ^@ NM_033257.3(DGCR6L):c.608C>T (p.Pro203Leu) http://identifiers.org/clinvar/162007 ^@ NC_000014.9:g.100720531_100829298del108768 http://identifiers.org/clinvar/162072 ^@ NM_002019.4(FLT1):c.3204T>C (p.Pro1068=) http://identifiers.org/clinvar/162128 ^@ NM_005211.3(CSF1R):c.2350G>A (p.Val784Met) http://identifiers.org/clinvar/162197 ^@ NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) http://identifiers.org/clinvar/162399 ^@ NM_052874.4(STX1B):c.676G>C (p.Gly226Arg) http://identifiers.org/clinvar/162480 ^@ NM_004208.3(AIFM1):c.1265G>A (p.Arg422Gln) http://identifiers.org/clinvar/162539 ^@ NM_001849.3(COL6A2):c.2566G>A (p.Val856Met) http://identifiers.org/clinvar/162622 ^@ NM_006755.1(TALDO1):c.793delC (p.Gln265Argfs) http://identifiers.org/clinvar/166493 ^@ NM_206933.2(USH2A):c.5858-12A>G http://identifiers.org/clinvar/162735 ^@ NM_001103.3(ACTN2):c.1519A>G (p.Met507Val) http://identifiers.org/clinvar/163063 ^@ NM_001042702.3(DFNB59):c.407+15C>G http://identifiers.org/clinvar/166128 ^@ NM_133378.4(TTN):c.25506C>T (p.Phe8502=) http://identifiers.org/clinvar/166250 ^@ NM_133379.4(TTN):c.15755A>G (p.Glu5252Gly) http://identifiers.org/clinvar/166300 ^@ NM_001267550.2(TTN):c.9384dupA (p.Val3129Serfs) http://identifiers.org/clinvar/166360 ^@ NM_001256850.1(TTN):c.156C>T (p.Pro52=) http://identifiers.org/clinvar/163261 ^@ NM_004415.3(DSP):c.3153C>T (p.Asn1051=) http://identifiers.org/clinvar/166584 ^@ NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) http://identifiers.org/clinvar/165267 ^@ NM_000441.1(SLC26A4):c.2320-4A>C http://identifiers.org/clinvar/162804 ^@ NM_004333.4(BRAF):c.111G>A (p.Ser37=) http://identifiers.org/clinvar/163118 ^@ NM_001277115.1(DNAH11):c.9935A>T (p.Asp3312Val) http://identifiers.org/clinvar/198454 ^@ NM_001101426.3(ISPD):c.947C>A (p.Thr316Lys) http://identifiers.org/clinvar/198508 ^@ NM_004369.3(COL6A3):c.3063A>G (p.Pro1021=) http://identifiers.org/clinvar/198559 ^@ NM_014141.5(CNTNAP2):c.945C>G (p.Thr315=) http://identifiers.org/clinvar/198611 ^@ NM_001177317.1(SLC34A3):c.698C>T (p.Ala233Val) http://identifiers.org/clinvar/198662 ^@ NM_032119.3(ADGRV1):c.15343C>T (p.Leu5115=) http://identifiers.org/clinvar/198713 ^@ NM_000303.2(PMM2):c.647A>G (p.Asn216Ser) http://identifiers.org/clinvar/198768 ^@ NM_001199107.1(TBC1D24):c.1674C>T (p.Thr558=) http://identifiers.org/clinvar/198820 ^@ NM_005477.2(HCN4):c.3587G>A (p.Arg1196His) http://identifiers.org/clinvar/198875 ^@ NM_015120.4(ALMS1):c.4433C>T (p.Ser1478Leu) http://identifiers.org/clinvar/198929 ^@ NM_198859.3(PRICKLE2):c.1962G>A (p.Leu654=) http://identifiers.org/clinvar/198980 ^@ NM_000018.3(ACADVL):c.866G>A (p.Gly289Glu) http://identifiers.org/clinvar/199082 ^@ NM_001048166.1(STIL):c.873-6G>T http://identifiers.org/clinvar/199136 ^@ NM_015311.2(OBSL1):c.3003C>T (p.Ala1001=) http://identifiers.org/clinvar/199186 ^@ NM_144969.2(ZDHHC15):c.747C>T (p.Cys249=) http://identifiers.org/clinvar/199242 ^@ NM_000540.2(RYR1):c.14130-8C>G http://identifiers.org/clinvar/201226 ^@ NM_001035.2(RYR2):c.2038G>A (p.Asp680Asn) http://identifiers.org/clinvar/201173 ^@ NM_001035.2(RYR2):c.5373C>A (p.Thr1791=) http://identifiers.org/clinvar/201282 ^@ NM_001035.2(RYR2):c.7855A>G (p.Lys2619Glu) http://identifiers.org/clinvar/201396 ^@ NM_001035.2(RYR2):c.11812A>C (p.Ser3938Arg) http://identifiers.org/clinvar/201336 ^@ NM_001035.2(RYR2):c.12551A>G (p.Glu4184Gly) http://identifiers.org/clinvar/199691 ^@ NM_000090.3(COL3A1):c.121G>T (p.Asp41Tyr) http://identifiers.org/clinvar/199745 ^@ NM_000090.3(COL3A1):c.3934C>T (p.Arg1312Trp) http://identifiers.org/clinvar/201563 ^@ NM_198056.2(SCN5A):c.5529_5543delGAGTGGGGACCGCAT (p.Ser1844_Ile1848del) http://identifiers.org/clinvar/201505 ^@ NM_198056.2(SCN5A):c.4070C>T (p.Ala1357Val) http://identifiers.org/clinvar/201449 ^@ NM_198056.2(SCN5A):c.1247A>G (p.Tyr416Cys) http://identifiers.org/clinvar/199852 ^@ NM_004415.3(DSP):c.616G>A (p.Ala206Thr) http://identifiers.org/clinvar/201052 ^@ NM_002474.2(MYH11):c.1763C>T (p.Ala588Val) http://identifiers.org/clinvar/201106 ^@ NM_002474.2(MYH11):c.1037T>C (p.Ile346Thr) http://identifiers.org/clinvar/199799 ^@ NM_001943.4(DSG2):c.653G>T (p.Gly218Val) http://identifiers.org/clinvar/201623 ^@ NM_001103.3(ACTN2):c.1657-16T>C http://identifiers.org/clinvar/202124 ^@ NM_024334.2(TMEM43):c.214G>A (p.Val72Met) http://identifiers.org/clinvar/201951 ^@ NM_014476.5(PDLIM3):c.60C>A (p.Gly20=) http://identifiers.org/clinvar/202066 ^@ NM_001134363.2(RBM20):c.2158A>G (p.Lys720Glu) http://identifiers.org/clinvar/201677 ^@ NM_004281.3(BAG3):c.1166G>A (p.Ser389Asn) http://identifiers.org/clinvar/201898 ^@ NM_006393.2(NEBL):c.614A>G (p.Asn205Ser) http://identifiers.org/clinvar/201843 ^@ NM_007078.2(LDB3):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/201789 ^@ NM_004517.3(ILK):c.175C>T (p.Arg59Trp) http://identifiers.org/clinvar/202008 ^@ NM_004572.3(PKP2):c.2385delC (p.Cys796Valfs) http://identifiers.org/clinvar/201733 ^@ NM_004006.2(DMD):c.3382G>C (p.Glu1128Gln) http://identifiers.org/clinvar/202181 ^@ NM_001082971.1(DDC):c.1040G>A (p.Arg347Gln) http://identifiers.org/clinvar/202231 ^@ NC_000019.9:g.(?_27923819)_(28852848_?)dup http://identifiers.org/clinvar/202409 ^@ NM_001256850.1(TTN):c.73255G>T (p.Glu24419Ter) http://identifiers.org/clinvar/202464 ^@ NM_001256850.1(TTN):c.66716delT (p.Leu22239Terfs) http://identifiers.org/clinvar/230653 ^@ NM_005732.3(RAD50):c.1948G>A (p.Glu650Lys) http://identifiers.org/clinvar/230603 ^@ NM_005732.3(RAD50):c.2745G>A (p.Leu915=) http://identifiers.org/clinvar/230353 ^@ NM_000051.3(ATM):c.89T>A (p.Phe30Tyr) http://identifiers.org/clinvar/230853 ^@ NM_000051.3(ATM):c.589G>A (p.Gly197Arg) http://identifiers.org/clinvar/233093 ^@ NM_000051.3(ATM):c.2529T>C (p.Asn843=) http://identifiers.org/clinvar/233343 ^@ NM_000051.3(ATM):c.2590A>G (p.Ser864Gly) http://identifiers.org/clinvar/232893 ^@ NM_000051.3(ATM):c.3918T>C (p.Ser1306=) http://identifiers.org/clinvar/233846 ^@ NM_000051.3(ATM):c.6098T>C (p.Leu2033Pro) http://identifiers.org/clinvar/229903 ^@ NM_000051.3(ATM):c.8265T>C (p.Tyr2755=) http://identifiers.org/clinvar/233443 ^@ NM_000051.3(ATM):c.8624dupA (p.Asn2875Lysfs) http://identifiers.org/clinvar/233193 ^@ NM_005591.3(MRE11):c.2028C>T (p.Ser676=) http://identifiers.org/clinvar/232843 ^@ NM_005591.3(MRE11):c.1663G>A (p.Ala555Thr) http://identifiers.org/clinvar/230703 ^@ NM_005591.3(MRE11):c.1233G>A (p.Glu411=) http://identifiers.org/clinvar/230553 ^@ NM_005591.3(MRE11):c.162T>C (p.Phe54=) http://identifiers.org/clinvar/230903 ^@ NM_000059.3(BRCA2):c.165C>T (p.Asn55=) http://identifiers.org/clinvar/230303 ^@ NM_000059.3(BRCA2):c.5529A>C (p.Ala1843=) http://identifiers.org/clinvar/233293 ^@ NM_000059.3(BRCA2):c.6327T>C (p.Val2109=) http://identifiers.org/clinvar/233493 ^@ NM_000059.3(BRCA2):c.7762_7764delATAinsTT (p.Ile2588Phefs) http://identifiers.org/clinvar/229803 ^@ NM_000059.3(BRCA2):c.7912T>C (p.Phe2638Leu) http://identifiers.org/clinvar/230453 ^@ NM_000548.4(TSC2):c.4097A>C (p.Glu1366Ala) http://identifiers.org/clinvar/233693 ^@ NM_024675.3(PALB2):c.229T>C (p.Cys77Arg) http://identifiers.org/clinvar/232693 ^@ NM_144997.5(FLCN):c.633G>C (p.Glu211Asp) http://identifiers.org/clinvar/231003 ^@ NM_001042492.2(NF1):c.1865G>A (p.Cys622Tyr) http://identifiers.org/clinvar/232542 ^@ NM_001042492.2(NF1):c.2576G>C (p.Gly859Ala) http://identifiers.org/clinvar/229853 ^@ NM_001042492.2(NF1):c.5523A>G (p.Gln1841=) http://identifiers.org/clinvar/230003 ^@ NM_001042492.2(NF1):c.7851G>T (p.Ala2617=) http://identifiers.org/clinvar/233393 ^@ NM_002878.3(RAD51D):c.817A>T (p.Ser273Cys) http://identifiers.org/clinvar/232943 ^@ NM_002878.3(RAD51D):c.575A>G (p.Gln192Arg) http://identifiers.org/clinvar/230203 ^@ NM_002878.3(RAD51D):c.519T>A (p.Phe173Leu) http://identifiers.org/clinvar/229953 ^@ NM_002878.3(RAD51D):c.357_360delTATG (p.Cys119Trpfs) http://identifiers.org/clinvar/233593 ^@ NM_007294.3(BRCA1):c.4946G>C (p.Arg1649Thr) http://identifiers.org/clinvar/232793 ^@ NM_007294.3(BRCA1):c.4185G>C (p.Gln1395His) http://identifiers.org/clinvar/230753 ^@ NM_007294.3(BRCA1):c.2745T>G (p.Ser915=) http://identifiers.org/clinvar/233643 ^@ NM_007294.3(BRCA1):c.2021C>G (p.Pro674Arg) http://identifiers.org/clinvar/229753 ^@ NM_032043.2(BRIP1):c.1048T>C (p.Cys350Arg) http://identifiers.org/clinvar/230053 ^@ NM_032043.2(BRIP1):c.205G>A (p.Gly69Arg) http://identifiers.org/clinvar/230253 ^@ NM_000546.5(TP53):c.743G>T (p.Arg248Leu) http://identifiers.org/clinvar/232743 ^@ NM_007194.3(CHEK2):c.417C>T (p.Tyr139=) http://identifiers.org/clinvar/234923 ^@ NM_001097642.2(GJB1):c.131G>A (p.Trp44Ter) http://identifiers.org/clinvar/235060 ^@ NM_003280.2(TNNC1):c.161C>A (p.Pro54His) http://identifiers.org/clinvar/235185 ^@ NM_018946.3(NANS):c.389dupT (p.Lys131Glnfs) http://identifiers.org/clinvar/235249 ^@ NM_001082971.1(DDC):c.121C>A (p.Leu41Met) http://identifiers.org/clinvar/235302 ^@ NM_004369.3(COL6A3):c.4183C>T (p.Arg1395Trp) http://identifiers.org/clinvar/235353 ^@ NM_005506.3(SCARB2):c.241C>T (p.Pro81Ser) http://identifiers.org/clinvar/235408 ^@ NM_000495.4(COL4A5):c.4531delC (p.Arg1511Valfs) http://identifiers.org/clinvar/235463 ^@ NM_003859.2(DPM1):c.679-7_679-6insTT http://identifiers.org/clinvar/235516 ^@ NC_012920.1:m.4688T>C http://identifiers.org/clinvar/235568 ^@ NM_001845.5(COL4A1):c.634G>A (p.Gly212Ser) http://identifiers.org/clinvar/235618 ^@ NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) http://identifiers.org/clinvar/235671 ^@ NC_012920.1:m.8519G>A http://identifiers.org/clinvar/235731 ^@ NM_207361.5(FREM2):c.1188G>C (p.Gln396His) http://identifiers.org/clinvar/235806 ^@ NM_000182.4(HADHA):c.1072C>A (p.Gln358Lys) http://identifiers.org/clinvar/235858 ^@ NM_000159.3(GCDH):c.431A>C (p.Gln144Pro) http://identifiers.org/clinvar/236042 ^@ NM_138691.2(TMC1):c.229delA (p.Arg77Glufs) http://identifiers.org/clinvar/236142 ^@ NM_000350.2(ABCA4):c.5942C>G (p.Thr1981Arg) http://identifiers.org/clinvar/238228 ^@ NM_001035.2(RYR2):c.2320C>A (p.Pro774Thr) http://identifiers.org/clinvar/238828 ^@ NM_001267550.2(TTN):c.66544T>G (p.Tyr22182Asp) http://identifiers.org/clinvar/238778 ^@ NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) http://identifiers.org/clinvar/238728 ^@ NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu) http://identifiers.org/clinvar/237778 ^@ NM_000393.4(COL5A2):c.4470C>T (p.Gly1490=) http://identifiers.org/clinvar/238628 ^@ NM_001204.6(BMPR2):c.1125_1128+16del http://identifiers.org/clinvar/237828 ^@ NM_000465.3(BARD1):c.2138_2140dupTGA (p.Val713_Thr714insMet) http://identifiers.org/clinvar/241982 ^@ NM_152383.4(DIS3L2):c.426C>T (p.Pro142=) http://identifiers.org/clinvar/238578 ^@ NM_001148.4(ANK2):c.3543C>T (p.Ala1181=) http://identifiers.org/clinvar/238278 ^@ NM_001080522.2(CC2D2A):c.4065+9T>C http://identifiers.org/clinvar/236632 ^@ NM_000038.5(APC):c.6610C>T (p.Arg2204Ter) http://identifiers.org/clinvar/255792 ^@ NM_000297.3(PKD2):c.1869C>G (p.Val623=) http://identifiers.org/clinvar/262081 ^@ NM_032446.2(MEGF10):c.984C>T (p.Asn328=) http://identifiers.org/clinvar/261581 ^@ NM_022455.4(NSD1):c.1317C>T (p.Asn439=) http://identifiers.org/clinvar/256092 ^@ NM_000426.3(LAMA2):c.8989-12C>G http://identifiers.org/clinvar/256292 ^@ NM_000500.7(CYP21A2):c.318G>A (p.Pro106=) http://identifiers.org/clinvar/261181 ^@ NM_019105.6(TNXB):c.9666G>A (p.Leu3222=) http://identifiers.org/clinvar/261131 ^@ NM_019105.6(TNXB):c.2761T>G (p.Ser921Ala) http://identifiers.org/clinvar/255742 ^@ NM_000287.3(PEX6):c.804C>T (p.Asp268=) http://identifiers.org/clinvar/257881 ^@ NM_001277115.1(DNAH11):c.3425+5C>G http://identifiers.org/clinvar/257931 ^@ NM_001277115.1(DNAH11):c.7765G>A (p.Val2589Ile) http://identifiers.org/clinvar/255442 ^@ NM_000168.5(GLI3):c.4071C>T (p.Tyr1357=) http://identifiers.org/clinvar/260931 ^@ NM_017802.3(DNAAF5):c.1931+8C>T http://identifiers.org/clinvar/261081 ^@ NM_019098.4(CNGB3):c.1179-38T>C http://identifiers.org/clinvar/255142 ^@ NM_000118.3(ENG):c.1452C>T (p.Ser484=) http://identifiers.org/clinvar/255092 ^@ NM_000093.4(COL5A1):c.4955-28T>C http://identifiers.org/clinvar/261331 ^@ NM_020549.4(CHAT):c.1605C>T (p.Ile535=) http://identifiers.org/clinvar/255992 ^@ NM_000392.4(ABCC2):c.1249G>A (p.Val417Ile) http://identifiers.org/clinvar/261631 ^@ NM_022725.3(FANCF):c.96C>T (p.Arg32=) http://identifiers.org/clinvar/256342 ^@ NM_000518.4(HBB):c.*316A>C http://identifiers.org/clinvar/261681 ^@ NM_024079.4(ALG8):c.673+37T>C http://identifiers.org/clinvar/261231 ^@ NM_020376.3(PNPLA2):c.1167G>T (p.Leu389=) http://identifiers.org/clinvar/255492 ^@ NM_000192.3(TBX5):c.663+34C>T http://identifiers.org/clinvar/256242 ^@ NM_000486.5(AQP2):c.345C>T (p.Asp115=) http://identifiers.org/clinvar/256042 ^@ NM_000424.3(KRT5):c.30G>A (p.Arg10=) http://identifiers.org/clinvar/261831 ^@ NM_025114.3(CEP290):c.2052+17A>G http://identifiers.org/clinvar/255942 ^@ NM_000359.2(TGM1):c.726G>A (p.Glu242=) http://identifiers.org/clinvar/261431 ^@ NM_021914.7(CFL2):c.441G>A (p.Ser147=) http://identifiers.org/clinvar/261381 ^@ NM_020937.3(FANCM):c.1397-3_1397-2delTA http://identifiers.org/clinvar/255292 ^@ NM_000138.4(FBN1):c.3454G>A (p.Ala1152Thr) http://identifiers.org/clinvar/332837 ^@ NM_133378.4(TTN):c.45618T>G (p.Val15206=) http://identifiers.org/clinvar/335628 ^@ NM_001029883.2(C2orf71):c.*506T>C http://identifiers.org/clinvar/332537 ^@ NM_003659.3(AGPS):c.*683A>G http://identifiers.org/clinvar/332987 ^@ NM_201548.4(CERKL):c.*880G>A http://identifiers.org/clinvar/332737 ^@ NM_133378.4(TTN):c.81526G>A (p.Ala27176Thr) http://identifiers.org/clinvar/333087 ^@ NM_000090.3(COL3A1):c.*674G>A http://identifiers.org/clinvar/335478 ^@ NM_000221.2(KHK):c.-245G>A http://identifiers.org/clinvar/333137 ^@ NM_000393.4(COL5A2):c.3119A>G (p.Asn1040Ser) http://identifiers.org/clinvar/335678 ^@ NM_004304.4(ALK):c.*189T>C http://identifiers.org/clinvar/336874 ^@ NM_002056.3(GFPT1):c.2002-12_2002-11delTT http://identifiers.org/clinvar/336924 ^@ NM_001692.3(ATP6V1B1):c.1249-15_1249-11delTTGCC http://identifiers.org/clinvar/334077 ^@ NM_000384.2(APOB):c.12443C>A (p.Ala4148Asp) http://identifiers.org/clinvar/337174 ^@ NM_000821.6(GGCX):c.*4744C>T http://identifiers.org/clinvar/333926 ^@ NM_015040.3(PIKFYVE):c.4958A>G (p.Tyr1653Cys) http://identifiers.org/clinvar/334027 ^@ NM_001875.4(CPS1):c.2394C>A (p.Val798=) http://identifiers.org/clinvar/334328 ^@ NM_015488.4(PNKD):c.959G>A (p.Arg320Gln) http://identifiers.org/clinvar/334528 ^@ NM_015311.2(OBSL1):c.1035G>A (p.Arg345=) http://identifiers.org/clinvar/337674 ^@ NM_001298.2(CNGA3):c.*283G>A http://identifiers.org/clinvar/334428 ^@ NM_002181.3(IHH):c.*199G>A http://identifiers.org/clinvar/337124 ^@ NM_013247.4(HTRA2):c.-146G>A http://identifiers.org/clinvar/335028 ^@ NM_005199.4(CHRNG):c.*606_*609dupTTTT http://identifiers.org/clinvar/337524 ^@ NM_014014.4(SNRNP200):c.6291A>G (p.Pro2097=) http://identifiers.org/clinvar/334878 ^@ NM_025243.3(SLC19A3):c.1132A>G (p.Ile378Val) http://identifiers.org/clinvar/335128 ^@ NM_004369.3(COL6A3):c.3714C>T (p.Ile1238=) http://identifiers.org/clinvar/335178 ^@ NM_004544.3(NDUFA10):c.*1884G>C http://identifiers.org/clinvar/335528 ^@ NM_002437.4(MPV17):c.-6+8G>A http://identifiers.org/clinvar/335578 ^@ NM_001029883.2(C2orf71):c.*2585A>G http://identifiers.org/clinvar/350683 ^@ NM_032446.2(MEGF10):c.*933C>G http://identifiers.org/clinvar/350783 ^@ NM_001999.3(FBN2):c.2902A>G (p.Asn968Asp) http://identifiers.org/clinvar/350883 ^@ NM_000358.2(TGFBI):c.1265-11C>A http://identifiers.org/clinvar/351083 ^@ NM_022464.4(SIL1):c.615G>A (p.Ala205=) http://identifiers.org/clinvar/350983 ^@ NM_017415.2(KLHL3):c.*39G>A http://identifiers.org/clinvar/358409 ^@ NM_005045.3(RELN):c.3060C>T (p.Asp1020=) http://identifiers.org/clinvar/351283 ^@ NM_005219.4(DIAPH1):c.*124_*126delCTT http://identifiers.org/clinvar/358509 ^@ NM_000441.1(SLC26A4):c.*523A>G http://identifiers.org/clinvar/351183 ^@ NM_199189.2(MATR3):c.*2174C>T http://identifiers.org/clinvar/358759 ^@ NM_012338.3(TSPAN12):c.*40T>C http://identifiers.org/clinvar/351383 ^@ NM_002700.2(POU4F3):c.591G>A (p.Arg197=) http://identifiers.org/clinvar/355820 ^@ NM_033071.3(SYNE1):c.23525T>C (p.Val7842Ala) http://identifiers.org/clinvar/359009 ^@ NM_020632.2(ATP6V0A4):c.2140-9G>A http://identifiers.org/clinvar/359059 ^@ NM_018238.3(AGK):c.424-2A>G http://identifiers.org/clinvar/359109 ^@ NM_000083.2(CLCN1):c.1309G>A (p.Ala437Thr) http://identifiers.org/clinvar/359159 ^@ NM_001080413.3(NOBOX):c.66T>C (p.Asp22=) http://identifiers.org/clinvar/359309 ^@ NM_000238.3(KCNH2):c.2331C>T (p.Thr777=) http://identifiers.org/clinvar/356320 ^@ NM_006929.4(SKIV2L):c.791A>T (p.Glu264Val) http://identifiers.org/clinvar/356370 ^@ NM_148919.3(PSMB8):c.22G>A (p.Gly8Arg) http://identifiers.org/clinvar/356520 ^@ NM_182548.3(LHFPL5):c.*481T>C http://identifiers.org/clinvar/352570 ^@ NM_002187.2(IL12B):c.*121dupT http://identifiers.org/clinvar/356670 ^@ NM_005943.5(MOCS1):c.175G>T (p.Ala59Ser) http://identifiers.org/clinvar/352670 ^@ NM_000816.3(GABRG2):c.*2095C>G http://identifiers.org/clinvar/360298 ^@ NM_000162.3(GCK):c.*92C>A http://identifiers.org/clinvar/352620 ^@ NM_000806.5(GABRA1):c.*1821T>G http://identifiers.org/clinvar/352720 ^@ NM_012188.4(FOXI1):c.*576T>A http://identifiers.org/clinvar/352820 ^@ NM_001017995.2(SH3PXD2B):c.884C>A (p.Pro295Gln) http://identifiers.org/clinvar/352870 ^@ NM_022455.4(NSD1):c.376A>G (p.Met126Val) http://identifiers.org/clinvar/352770 ^@ NM_001017995.2(SH3PXD2B):c.*1511A>G http://identifiers.org/clinvar/353020 ^@ NM_006261.4(PROP1):c.-260A>T http://identifiers.org/clinvar/353070 ^@ NM_014244.4(ADAMTS2):c.*853G>T http://identifiers.org/clinvar/360948 ^@ NM_000089.3(COL1A2):c.783T>C (p.Pro261=) http://identifiers.org/clinvar/360998 ^@ NM_003919.2(SGCE):c.-97G>A http://identifiers.org/clinvar/361298 ^@ NM_178857.5(RP1L1):c.3961C>G (p.Gln1321Glu) http://identifiers.org/clinvar/361558 ^@ NM_014112.4(TRPS1):c.*2848A>T http://identifiers.org/clinvar/363847 ^@ NM_019098.4(CNGB3):c.*1459C>T http://identifiers.org/clinvar/363947 ^@ NM_018444.3(PDP1):c.*51G>T http://identifiers.org/clinvar/363997 ^@ NM_177965.3(C8orf37):c.*406A>T http://identifiers.org/clinvar/364047 ^@ NM_001001557.3(GDF6):c.770C>T (p.Pro257Leu) http://identifiers.org/clinvar/361098 ^@ NM_017890.4(VPS13B):c.*33_*36dupGATT http://identifiers.org/clinvar/365236 ^@ NM_000113.2(TOR1A):c.-31C>A http://identifiers.org/clinvar/365336 ^@ NM_015046.5(SETX):c.7914C>T (p.Phe2638=) http://identifiers.org/clinvar/308443 ^@ NM_001040436.2(YARS2):c.*230A>G http://identifiers.org/clinvar/308493 ^@ NM_004572.3(PKP2):c.*330A>G http://identifiers.org/clinvar/308593 ^@ NM_017641.3(KIF21A):c.-19A>G http://identifiers.org/clinvar/365136 ^@ NM_001003722.1(GLE1):c.*73G>A http://identifiers.org/clinvar/365286 ^@ NM_007171.3(POMT1):c.*68C>T http://identifiers.org/clinvar/301689 ^@ NM_016341.3(PLCE1):c.699T>C (p.Tyr233=) http://identifiers.org/clinvar/301739 ^@ NM_016341.3(PLCE1):c.*220T>G http://identifiers.org/clinvar/301789 ^@ NM_138413.3(HOGA1):c.185A>T (p.His62Leu) http://identifiers.org/clinvar/309243 ^@ NM_000486.5(AQP2):c.*640T>C http://identifiers.org/clinvar/301939 ^@ NM_004771.3(MMP20):c.954-13delG http://identifiers.org/clinvar/309493 ^@ NM_002282.3(KRT83):c.*23G>T http://identifiers.org/clinvar/365786 ^@ NM_000093.4(COL5A1):c.*1922G>A http://identifiers.org/clinvar/366187 ^@ NM_144966.5(FREM1):c.-285A>G http://identifiers.org/clinvar/302089 ^@ NM_001080463.1(DYNC2H1):c.10282A>G (p.Lys3428Glu) http://identifiers.org/clinvar/365836 ^@ NM_052813.4(CARD9):c.1260G>A (p.Thr420=) http://identifiers.org/clinvar/366237 ^@ NM_002451.3(MTAP):c.121-10T>C http://identifiers.org/clinvar/302139 ^@ NM_001025389.1(AMPD3):c.-240A>G http://identifiers.org/clinvar/365937 ^@ NM_006412.3(AGPAT2):c.-39_-34delGGAGCG http://identifiers.org/clinvar/365987 ^@ NM_016219.4(MAN1B1):c.*489G>A http://identifiers.org/clinvar/302339 ^@ NM_002906.3(RDX):c.*429G>A http://identifiers.org/clinvar/366087 ^@ NM_144966.5(FREM1):c.*758T>A http://identifiers.org/clinvar/302439 ^@ NM_001931.4(DLAT):c.-500C>T http://identifiers.org/clinvar/302539 ^@ NM_001558.3(IL10RA):c.181C>G (p.Leu61Val) http://identifiers.org/clinvar/310532 ^@ NM_018979.3(WNK1):c.-122C>T http://identifiers.org/clinvar/366687 ^@ NM_012144.3(DNAI1):c.638C>T (p.Thr213Met) http://identifiers.org/clinvar/366387 ^@ NM_000459.4(TEK):c.-326A>G http://identifiers.org/clinvar/302839 ^@ NM_005188.3(CBL):c.*3714C>T http://identifiers.org/clinvar/366437 ^@ NM_000459.4(TEK):c.2094G>A (p.Gln698=) http://identifiers.org/clinvar/302889 ^@ NM_005188.3(CBL):c.*6703T>C http://identifiers.org/clinvar/310787 ^@ NM_003276.2(TMPO):c.*682T>A http://identifiers.org/clinvar/310937 ^@ NM_000123.3(ERCC5):c.2844T>C (p.Phe948=) http://identifiers.org/clinvar/321861 ^@ NM_000304.3(PMP22):c.*3C>T http://identifiers.org/clinvar/340514 ^@ NM_006031.5(PCNT):c.6295C>T (p.Pro2099Ser) http://identifiers.org/clinvar/340615 ^@ NM_014339.6(IL17RA):c.*58G>A http://identifiers.org/clinvar/340665 ^@ NM_014339.6(IL17RA):c.*2819delT http://identifiers.org/clinvar/322261 ^@ NM_000430.3(PAFAH1B1):c.399+4A>G http://identifiers.org/clinvar/312976 ^@ NM_000359.2(TGM1):c.1940C>T (p.Thr647Ile) http://identifiers.org/clinvar/322311 ^@ NM_000430.3(PAFAH1B1):c.*2835G>A http://identifiers.org/clinvar/322411 ^@ NM_080669.5(SLC46A1):c.294C>A (p.Leu98=) http://identifiers.org/clinvar/313176 ^@ NM_006194.3(PAX9):c.*263A>G http://identifiers.org/clinvar/313376 ^@ NM_000161.2(GCH1):c.*830A>T http://identifiers.org/clinvar/315115 ^@ NM_177438.2(DICER1):c.-73C>T http://identifiers.org/clinvar/341854 ^@ NM_001429.3(EP300):c.*922_*932delACTCACACACAinsC http://identifiers.org/clinvar/341954 ^@ NM_025225.2(PNPLA3):c.*691_*692dupAA http://identifiers.org/clinvar/315565 ^@ NM_133647.1(SLC12A6):c.*2637A>G http://identifiers.org/clinvar/323350 ^@ NM_032387.4(WNK4):c.3074C>T (p.Pro1025Leu) http://identifiers.org/clinvar/315665 ^@ NM_005159.4(ACTC1):c.*1090A>G http://identifiers.org/clinvar/313776 ^@ NM_000347.5(SPTB):c.773C>T (p.Thr258Met) http://identifiers.org/clinvar/313826 ^@ NM_002382.4(MAX):c.-100T>G http://identifiers.org/clinvar/323450 ^@ NM_153006.2(NAGS):c.1302C>T (p.Pro434=) http://identifiers.org/clinvar/315715 ^@ NM_005159.4(ACTC1):c.-55C>A http://identifiers.org/clinvar/313876 ^@ NM_015346.3(ZFYVE26):c.6849A>G (p.Thr2283=) http://identifiers.org/clinvar/323500 ^@ NM_000342.3(SLC4A1):c.*135G>A http://identifiers.org/clinvar/323550 ^@ NM_000419.4(ITGA2B):c.1848G>A (p.Val616=) http://identifiers.org/clinvar/314076 ^@ NM_031427.3(DNAL1):c.*3536G>A http://identifiers.org/clinvar/316265 ^@ NM_000338.2(SLC12A1):c.2198C>T (p.Ala733Val) http://identifiers.org/clinvar/324000 ^@ NM_005220.2(DLX3):c.*1328T>G http://identifiers.org/clinvar/316415 ^@ NM_014985.3(CEP152):c.3433C>A (p.Pro1145Thr) http://identifiers.org/clinvar/324257 ^@ NM_018488.3(TBX4):c.1005C>T (p.His335=) http://identifiers.org/clinvar/316565 ^@ NM_182758.3(WDR72):c.*993T>A http://identifiers.org/clinvar/324559 ^@ NM_007215.3(POLG2):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/315615 ^@ NM_133647.1(SLC12A6):c.1250A>G (p.Asn417Ser) http://identifiers.org/clinvar/317755 ^@ NM_004862.3(LITAF):c.*1493T>G http://identifiers.org/clinvar/316065 ^@ NM_201631.3(TGM5):c.11-11C>A http://identifiers.org/clinvar/316115 ^@ NM_025137.3(SPG11):c.257+13G>A http://identifiers.org/clinvar/318005 ^@ NM_014714.3(IFT140):c.3580C>G (p.Gln1194Glu) http://identifiers.org/clinvar/316215 ^@ NM_001482.2(GATM):c.-200C>T http://identifiers.org/clinvar/316365 ^@ NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) http://identifiers.org/clinvar/318157 ^@ NM_002474.2(MYH11):c.3831G>A (p.Glu1277=) http://identifiers.org/clinvar/372120 ^@ NM_032667.6(BSCL2):c.782dupG (p.Ile262Hisfs) http://identifiers.org/clinvar/372194 ^@ NM_004544.3(NDUFA10):c.881T>C (p.Leu294Pro) http://identifiers.org/clinvar/372250 ^@ NM_014049.4(ACAD9):c.1687C>G (p.His563Asp) http://identifiers.org/clinvar/373126 ^@ NM_014874.3(MFN2):c.1061T>C (p.Val354Ala) http://identifiers.org/clinvar/372770 ^@ NM_006147.3(IRF6):c.181G>A (p.Ala61Thr) http://identifiers.org/clinvar/372925 ^@ NM_006912.5(RIT1):c.539G>A (p.Arg180Gln) http://identifiers.org/clinvar/373176 ^@ NM_018136.4(ASPM):c.2409G>A (p.Trp803Ter) http://identifiers.org/clinvar/372566 ^@ NM_001165963.1(SCN1A):c.2594G>A (p.Arg865Gln) http://identifiers.org/clinvar/373226 ^@ NM_012102.3(RERE):c.2462C>T (p.Ser821Leu) http://identifiers.org/clinvar/373426 ^@ NM_014159.6(SETD2):c.4774C>T (p.Arg1592Ter) http://identifiers.org/clinvar/372356 ^@ NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) http://identifiers.org/clinvar/372616 ^@ NM_001101.3(ACTB):c.868C>T (p.Arg290Cys) http://identifiers.org/clinvar/372306 ^@ NM_000048.3(ASL):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/372407 ^@ NM_000429.2(MAT1A):c.964A>T (p.Ile322Phe) http://identifiers.org/clinvar/373326 ^@ NM_015665.5(AAAS):c.270T>G (p.Phe90Leu) http://identifiers.org/clinvar/372668 ^@ NM_002834.4(PTPN11):c.931A>G (p.Met311Val) http://identifiers.org/clinvar/372821 ^@ NM_001009944.2(PKD1):c.1523G>T (p.Cys508Phe) http://identifiers.org/clinvar/372873 ^@ NM_000080.3(CHRNE):c.1480_*48del51insC http://identifiers.org/clinvar/372514 ^@ NM_000346.3(SOX9):c.1262_1278del17 (p.Ser421Thrfs) http://identifiers.org/clinvar/373376 ^@ NM_001139.2(ALOX12B):c.530G>A (p.Trp177Ter) http://identifiers.org/clinvar/373476 ^@ NM_017636.3(TRPM4):c.2778+11G>T http://identifiers.org/clinvar/372720 ^@ NM_024422.4(DSC2):c.608G>A (p.Arg203His) http://identifiers.org/clinvar/372976 ^@ NM_003560.2(PLA2G6):c.1979C>G (p.Pro660Arg) http://identifiers.org/clinvar/373276 ^@ NM_018990.3(SASH3):c.912_919delCAAGCTGC (p.Lys305Hisfs) http://identifiers.org/clinvar/372461 ^@ NM_000444.5(PHEX):c.1715G>T (p.Gly572Val) http://identifiers.org/clinvar/374168 ^@ NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp) http://identifiers.org/clinvar/374222 ^@ NM_020732.3(ARID1B):c.5025+1G>A http://identifiers.org/clinvar/374342 ^@ NM_000271.4(NPC1):c.839delT (p.Leu280Cysfs) http://identifiers.org/clinvar/374272 ^@ NM_172108.4(KCNQ2):c.2332delC (p.Gln778Serfs) http://identifiers.org/clinvar/374408 ^@ NM_152419.2(HGSNAT):c.1360C>T (p.Gln454Ter) http://identifiers.org/clinvar/374460 ^@ NM_000540.2(RYR1):c.4931A>G (p.Asn1644Ser) http://identifiers.org/clinvar/374510 ^@ NM_007267.7(TMC6):c.1672G>A (p.Val558Ile) http://identifiers.org/clinvar/374560 ^@ NM_003467.2(CXCR4):c.153T>A (p.Thr51=) http://identifiers.org/clinvar/374610 ^@ NM_003119.3(SPG7):c.2180C>T (p.Ala727Val) http://identifiers.org/clinvar/374660 ^@ NM_014845.5(FIG4):c.863G>T (p.Gly288Val) http://identifiers.org/clinvar/374710 ^@ NM_004366.5(CLCN2):c.2517C>T (p.Ile839=) http://identifiers.org/clinvar/374760 ^@ NM_001458.4(FLNC):c.3475C>T (p.Arg1159Trp) http://identifiers.org/clinvar/374820 ^@ NM_000141.4(FGFR2):c.1025G>C (p.Cys342Ser) http://identifiers.org/clinvar/374870 ^@ NM_014727.2(KMT2B):c.6406delC (p.Leu2136Serfs) http://identifiers.org/clinvar/374936 ^@ NM_001040616.2(LINS1):c.937G>A (p.Glu313Lys) http://identifiers.org/clinvar/374988 ^@ NM_001024845.2(SLC6A9):c.709_713delAAGTC (p.Lys237Phefs) http://identifiers.org/clinvar/375322 ^@ NM_000348.3(SRD5A2):c.694C>G (p.His232Asp) http://identifiers.org/clinvar/375373 ^@ NM_138615.2(DHX30):c.2344C>T (p.Arg782Trp) http://identifiers.org/clinvar/375428 ^@ NM_001453.2(FOXC1):c.666_681del16 (p.Ile223Profs) http://identifiers.org/clinvar/375494 ^@ NM_001005463.2(EBF3):c.625C>T (p.Arg209Trp) http://identifiers.org/clinvar/375547 ^@ NM_000059.3(BRCA2):c.5161_5164delAACA (p.Asn1721Valfs) http://identifiers.org/clinvar/375614 ^@ NM_001256182.1(ANKRD11):c.5504delT (p.Leu1835Argfs) http://identifiers.org/clinvar/375665 ^@ NM_000771.3(CYP2C9):c.1076T>C (p.Ile359Thr) http://identifiers.org/clinvar/375759 ^@ NM_000517.4(HBA2):c.339C>G (p.His113Gln) http://identifiers.org/clinvar/375809 ^@ NM_000527.4(LDLR):c.1186+5G>C http://identifiers.org/clinvar/385577 ^@ NM_033109.4(PNPT1):c.1176+7T>C http://identifiers.org/clinvar/385177 ^@ NM_000179.2(MSH6):c.216C>G (p.Leu72=) http://identifiers.org/clinvar/378171 ^@ NM_000179.2(MSH6):c.3801+14G>T http://identifiers.org/clinvar/378476 ^@ NM_022912.2(REEP1):c.596-16C>T http://identifiers.org/clinvar/378271 ^@ NM_001002755.2(NFU1):c.48C>T (p.Ala16=) http://identifiers.org/clinvar/387316 ^@ NM_000539.3(RHO):c.405G>T (p.Arg135=) http://identifiers.org/clinvar/391244 ^@ NM_014946.3(SPAST):c.98C>T (p.Pro33Leu) http://identifiers.org/clinvar/389405 ^@ NM_000340.1(SLC2A2):c.162A>G (p.Lys54=) http://identifiers.org/clinvar/383375 ^@ NM_000038.5(APC):c.5952T>C (p.Asn1984=) http://identifiers.org/clinvar/391594 ^@ NM_000038.5(APC):c.221-5T>C http://identifiers.org/clinvar/389155 ^@ NM_001999.3(FBN2):c.3217+12C>A http://identifiers.org/clinvar/386766 ^@ NM_000038.5(APC):c.8382C>T (p.Ser2794=) http://identifiers.org/clinvar/377418 ^@ NM_014049.4(ACAD9):c.1221A>G (p.Thr407=) http://identifiers.org/clinvar/378577 ^@ NM_000337.5(SGCD):c.717G>A (p.Ala239=) http://identifiers.org/clinvar/387266 ^@ NM_000249.3(MLH1):c.1989+12A>G http://identifiers.org/clinvar/384877 ^@ NM_018341.2(ERMARD):c.-13G>C http://identifiers.org/clinvar/377469 ^@ NM_001148.4(ANK2):c.684G>A (p.Arg228=) http://identifiers.org/clinvar/389755 ^@ NM_001148.4(ANK2):c.3718C>G (p.Pro1240Ala) http://identifiers.org/clinvar/389805 ^@ NM_005763.3(AASS):c.2537A>G (p.His846Arg) http://identifiers.org/clinvar/391194 ^@ NM_032861.3(SERAC1):c.1592G>A (p.Ser531Asn) http://identifiers.org/clinvar/385077 ^@ NM_002047.3(GARS):c.408A>G (p.Gln136=) http://identifiers.org/clinvar/391494 ^@ NM_004370.5(COL12A1):c.4798T>C (p.Tyr1600His) http://identifiers.org/clinvar/389705 ^@ NM_001458.4(FLNC):c.5311C>G (p.Pro1771Ala) http://identifiers.org/clinvar/392294 ^@ NM_000038.5(APC):c.4410T>G (p.Ala1470=) http://identifiers.org/clinvar/392044 ^@ NM_001458.4(FLNC):c.3621C>T (p.Asn1207=) http://identifiers.org/clinvar/377869 ^@ NM_001999.3(FBN2):c.5353+16G>A http://identifiers.org/clinvar/377919 ^@ NM_018972.2(GDAP1):c.485-20C>G http://identifiers.org/clinvar/377969 ^@ NM_001540.3(HSPB1):c.36G>T (p.Arg12=) http://identifiers.org/clinvar/378426 ^@ NM_016203.3(PRKAG2):c.393C>T (p.Ser131=) http://identifiers.org/clinvar/382724 ^@ NM_003165.3(STXBP1):c.902+11C>G http://identifiers.org/clinvar/387516 ^@ NM_024531.4(SLC52A2):c.84T>C (p.Asn28=) http://identifiers.org/clinvar/392094 ^@ NM_002485.4(NBN):c.105T>A (p.Ile35=) http://identifiers.org/clinvar/390305 ^@ NM_006073.3(TRDN):c.932-11G>T http://identifiers.org/clinvar/384927 ^@ NM_001130438.2(SPTAN1):c.505-18C>T http://identifiers.org/clinvar/391294 ^@ NM_006772.2(SYNGAP1):c.922T>C (p.Trp308Arg) http://identifiers.org/clinvar/384777 ^@ NM_012160.4(FBXL4):c.1317+14A>G http://identifiers.org/clinvar/378071 ^@ NM_006059.3(LAMC3):c.3347C>G (p.Ala1116Gly) http://identifiers.org/clinvar/392244 ^@ NM_003829.4(MPDZ):c.2600G>A (p.Cys867Tyr) http://identifiers.org/clinvar/133805 ^@ NM_032415.5(CARD11):c.590T>C (p.Val197Ala) http://identifiers.org/clinvar/133855 ^@ NM_004360.4(CDH1):c.1225T>C (p.Trp409Arg) http://identifiers.org/clinvar/133905 ^@ NM_015125.4(CIC):c.2918C>A (p.Thr973Lys) http://identifiers.org/clinvar/133955 ^@ NM_015247.2(CYLD):c.1933G>A (p.Val645Ile) http://identifiers.org/clinvar/134005 ^@ NM_001077706.2(ECT2L):c.145G>A (p.Ala49Thr) http://identifiers.org/clinvar/134057 ^@ NM_001429.3(EP300):c.6390G>A (p.Met2130Ile) http://identifiers.org/clinvar/134107 ^@ NM_000400.3(ERCC2):c.2231T>C (p.Leu744Pro) http://identifiers.org/clinvar/134157 ^@ NM_005236.2(ERCC4):c.1606G>C (p.Val536Leu) http://identifiers.org/clinvar/134207 ^@ NM_207122.1(EXT2):c.124A>G (p.Met42Val) http://identifiers.org/clinvar/134257 ^@ NM_000135.2(FANCA):c.2568G>C (p.Leu856Phe) http://identifiers.org/clinvar/134308 ^@ NM_000136.2(FANCC):c.1329+175C>T http://identifiers.org/clinvar/134359 ^@ NM_004629.1(FANCG):c.1366delC (p.His456Thrfs) http://identifiers.org/clinvar/134409 ^@ NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) http://identifiers.org/clinvar/134459 ^@ NM_003902.4(FUBP1):c.1801A>G (p.Thr601Ala) http://identifiers.org/clinvar/134509 ^@ NM_000545.6(HNF1A):c.557T>C (p.Ile186Thr) http://identifiers.org/clinvar/134559 ^@ NM_004972.3(JAK2):c.380G>A (p.Gly127Asp) http://identifiers.org/clinvar/134609 ^@ NM_002253.2(KDR):c.3808A>C (p.Lys1270Gln) http://identifiers.org/clinvar/134661 ^@ NM_003482.3(KMT2D):c.2250_2276del27 (p.Arg755_Pro763del) http://identifiers.org/clinvar/134712 ^@ NM_003482.3(KMT2D):c.11875C>A (p.Gln3959Lys) http://identifiers.org/clinvar/134762 ^@ NM_170606.2(KMT2C):c.6461C>G (p.Ser2154Cys) http://identifiers.org/clinvar/134812 ^@ NM_170606.2(KMT2C):c.12755C>T (p.Ala4252Val) http://identifiers.org/clinvar/134866 ^@ NM_001128425.1(MUTYH):c.1508G>A (p.Gly503Glu) http://identifiers.org/clinvar/134916 ^@ NM_017617.4(NOTCH1):c.2377_2379delAAC (p.Asn793del) http://identifiers.org/clinvar/134966 ^@ NM_024408.3(NOTCH2):c.3388G>A (p.Gly1130Ser) http://identifiers.org/clinvar/135016 ^@ NM_006206.4(PDGFRA):c.2282T>G (p.Leu761Arg) http://identifiers.org/clinvar/135067 ^@ NM_000535.6(PMS2):c.1687C>T (p.Arg563Ter) http://identifiers.org/clinvar/135199 ^@ NM_003002.3(SDHD):c.480A>G (p.Ter160Trp) http://identifiers.org/clinvar/135250 ^@ NM_001128849.1(SMARCA4):c.602A>T (p.Gln201Leu) http://identifiers.org/clinvar/135300 ^@ NM_001127208.2(TET2):c.5162T>G (p.Leu1721Trp) http://identifiers.org/clinvar/135350 ^@ NM_003820.3(TNFRSF14):c.348C>T (p.Asn116=) http://identifiers.org/clinvar/135401 ^@ NM_000369.2(TSHR):c.929G>A (p.Arg310His) http://identifiers.org/clinvar/135791 ^@ NM_000059.3(BRCA2):c.1838T>G (p.Leu613Arg) http://identifiers.org/clinvar/187592 ^@ NM_001042492.2(NF1):c.7825G>A (p.Val2609Ile) http://identifiers.org/clinvar/185051 ^@ NM_002878.3(RAD51D):c.250A>G (p.Thr84Ala) http://identifiers.org/clinvar/185251 ^@ NM_007294.3(BRCA1):c.4305C>T (p.Asp1435=) http://identifiers.org/clinvar/184951 ^@ NM_007294.3(BRCA1):c.2421A>G (p.Ala807=) http://identifiers.org/clinvar/184501 ^@ NM_007294.3(BRCA1):c.2412G>A (p.Gln804=) http://identifiers.org/clinvar/187742 ^@ NM_007294.3(BRCA1):c.1919A>C (p.Gln640Pro) http://identifiers.org/clinvar/185101 ^@ NM_007294.3(BRCA1):c.1042T>C (p.Cys348Arg) http://identifiers.org/clinvar/187692 ^@ NM_058216.2(RAD51C):c.548T>C (p.Ile183Thr) http://identifiers.org/clinvar/186992 ^@ NM_032043.2(BRIP1):c.2108delAinsTCC (p.Lys703Ilefs) http://identifiers.org/clinvar/187292 ^@ NM_032043.2(BRIP1):c.2018A>G (p.Gln673Arg) http://identifiers.org/clinvar/184351 ^@ NM_000455.4(STK11):c.1056C>T (p.Asp352=) http://identifiers.org/clinvar/187796 ^@ NM_005215.3(DCC):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/187875 ^@ NM_005957.4(MTHFR):c.440A>C (p.Gln147Pro) http://identifiers.org/clinvar/187925 ^@ NM_004409.4(DMPK):c.*224_*226[1502] http://identifiers.org/clinvar/187975 ^@ NM_004409.4(DMPK):c.*224_*226[395] http://identifiers.org/clinvar/188025 ^@ NM_004409.4(DMPK):c.*224_*226[721] http://identifiers.org/clinvar/188075 ^@ NM_000038.5(APC):c.4765C>T (p.Arg1589Cys) http://identifiers.org/clinvar/188126 ^@ NM_138694.3(PKHD1):c.3890C>T (p.Ala1297Val) http://identifiers.org/clinvar/188228 ^@ NM_007294.3(BRCA1):c.5278-?_5467+?del http://identifiers.org/clinvar/188177 ^@ NM_005359.5(SMAD4):c.1353_1354insGCTACTGCACAAGCTGCAGCAGCTGCCC (p.Gln461Argfs) http://identifiers.org/clinvar/189186 ^@ NM_000370.3(TTPA):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/189086 ^@ NR_003051.3(RMRP):n.64C>T http://identifiers.org/clinvar/189136 ^@ NM_000500.7:c.*28699426C>T http://identifiers.org/clinvar/189253 ^@ NM_004577.3(PSPH):c.103G>A (p.Ala35Thr) http://identifiers.org/clinvar/189306 ^@ NM_000384.2(APOB):c.499C>T (p.Pro167Ser) http://identifiers.org/clinvar/189726 ^@ NM_004992.3(MECP2):c.834_939del106 (p.Ala279Serfs) http://identifiers.org/clinvar/189626 ^@ NM_004992.3(MECP2):c.378-70C>G http://identifiers.org/clinvar/189776 ^@ NM_001110792.1(MECP2):c.62+1G>A http://identifiers.org/clinvar/189676 ^@ NM_004992.3(MECP2):c.(?_-226)_(*1_?)del http://identifiers.org/clinvar/189860 ^@ NM_001165963.1(SCN1A):c.3802_3812delCTTCTAAAATG (p.Leu1268Glyfs) http://identifiers.org/clinvar/190010 ^@ NM_001165963.1(SCN1A):c.1970C>T (p.Pro657Leu) http://identifiers.org/clinvar/189960 ^@ NM_001165963.1(SCN1A):c.1025C>T (p.Ala342Val) http://identifiers.org/clinvar/189910 ^@ NM_001165963.1(SCN1A):c.751delA (p.Met251Terfs) http://identifiers.org/clinvar/190145 ^@ NM_016955.3(SEPSECS):c.1466A>T (p.Asp489Val) http://identifiers.org/clinvar/190195 ^@ NM_001110556.1(FLNA):c.4617_4618delGC (p.Leu1540Alafs) http://identifiers.org/clinvar/190251 ^@ NM_172337.2(OTX2):c.235G>A (p.Glu79Lys) http://identifiers.org/clinvar/190329 ^@ NM_014423.3(AFF4):c.760A>G (p.Thr254Ala) http://identifiers.org/clinvar/190386 ^@ NM_016343.3(CENPF):c.574-2A>C http://identifiers.org/clinvar/228862 ^@ NM_001018116.2(CAVIN4):c.-10A>T http://identifiers.org/clinvar/228562 ^@ NM_015404.3(WHRN):c.2417C>T (p.Pro806Leu) http://identifiers.org/clinvar/227220 ^@ NM_022124.5(CDH23):c.2289+11_2289+12delinsCT http://identifiers.org/clinvar/228512 ^@ NM_022124.5(CDH23):c.9904G>A (p.Glu3302Lys) http://identifiers.org/clinvar/228312 ^@ NM_014000.2(VCL):c.670dupG (p.Glu224Glyfs) http://identifiers.org/clinvar/227070 ^@ NM_001098668.3(SFTPA2):c.648T>C (p.Pro216=) http://identifiers.org/clinvar/226869 ^@ NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) http://identifiers.org/clinvar/226919 ^@ NM_001277269.1(OTOG):c.8400G>C (p.Leu2800=) http://identifiers.org/clinvar/226969 ^@ NM_173591.3(OTOGL):c.6394G>A (p.Ala2132Thr) http://identifiers.org/clinvar/228662 ^@ NM_000115.4(EDNRB):c.1285G>A (p.Gly429Arg) http://identifiers.org/clinvar/228912 ^@ NM_000257.3(MYH7):c.4721G>A (p.Arg1574Gln) http://identifiers.org/clinvar/228262 ^@ NM_000138.4(FBN1):c.299G>A (p.Cys100Tyr) http://identifiers.org/clinvar/228962 ^@ NM_016239.3(MYO15A):c.6170A>C (p.His2057Pro) http://identifiers.org/clinvar/227962 ^@ NM_139276.2(STAT3):c.1366-11T>C http://identifiers.org/clinvar/226819 ^@ NM_003803.3(MYOM1):c.3576-5C>T http://identifiers.org/clinvar/228812 ^@ NM_144612.6(LOXHD1):c.131-11_131-10delinsAA http://identifiers.org/clinvar/226719 ^@ NM_003573.2(LTBP4):c.2144-11C>A http://identifiers.org/clinvar/226519 ^@ NM_006012.2(CLPP):c.368-8G>A http://identifiers.org/clinvar/228762 ^@ NM_000219.5(KCNE1):c.238G>A (p.Val80Ile) http://identifiers.org/clinvar/226569 ^@ NM_004021.2(DMD):c.3684G>A (p.Ala1228=) http://identifiers.org/clinvar/227019 ^@ NM_000445.4(PLEC):c.423+13G>A http://identifiers.org/clinvar/227170 ^@ NM_001614.3(ACTG1):c.774G>A (p.Pro258=) http://identifiers.org/clinvar/229012 ^@ NM_000260.3(MYO7A):c.3491G>A (p.Arg1164Gln) http://identifiers.org/clinvar/234719 ^@ NM_000249.3(MLH1):c.307-2A>G http://identifiers.org/clinvar/234669 ^@ NM_000535.6(PMS2):c.508C>A (p.His170Asn) http://identifiers.org/clinvar/234769 ^@ NM_138361.5(LRSAM1):c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs) http://identifiers.org/clinvar/234619 ^@ NM_021625.4(TRPV4):c.290C>G (p.Pro97Arg) http://identifiers.org/clinvar/234819 ^@ NM_001065.3(TNFRSF1A):c.806C>G (p.Pro269Arg) http://identifiers.org/clinvar/234569 ^@ NM_022041.3(GAN):c.1630G>A (p.Val544Met) http://identifiers.org/clinvar/234870 ^@ NM_000455.4(STK11):c.*16+5G>A http://identifiers.org/clinvar/233795 ^@ NM_003000.2(SDHB):c.713delT (p.Phe238Serfs) http://identifiers.org/clinvar/230503 ^@ NM_001128425.1(MUTYH):c.1004A>G (p.Asn335Ser) http://identifiers.org/clinvar/232643 ^@ NM_000465.3(BARD1):c.1810+1G>A http://identifiers.org/clinvar/233243 ^@ NM_000465.3(BARD1):c.945A>T (p.Pro315=) http://identifiers.org/clinvar/230803 ^@ NM_000465.3(BARD1):c.823T>A (p.Leu275Ile) http://identifiers.org/clinvar/233543 ^@ NM_000251.2(MSH2):c.-68-124A>G http://identifiers.org/clinvar/230103 ^@ NM_000251.2(MSH2):c.2708A>G (p.Asn903Ser) http://identifiers.org/clinvar/230953 ^@ NM_000179.2(MSH6):c.2036_2042delTGGCCCTinsGG (p.Leu679Trpfs) http://identifiers.org/clinvar/230153 ^@ NM_000179.2(MSH6):c.3313G>A (p.Gly1105Arg) http://identifiers.org/clinvar/233043 ^@ NM_000179.2(MSH6):c.3447A>C (p.Leu1149Phe) http://identifiers.org/clinvar/233143 ^@ NM_000179.2(MSH6):c.3807C>T (p.Cys1269=) http://identifiers.org/clinvar/232993 ^@ NM_000179.2(MSH6):c.3955_3980del26 (p.Lys1319Serfs) http://identifiers.org/clinvar/233745 ^@ NM_000038.5(APC):c.1204C>T (p.Arg402Cys) http://identifiers.org/clinvar/232593 ^@ NM_000038.5(APC):c.3943T>C (p.Ser1315Pro) http://identifiers.org/clinvar/230403 ^@ NM_000038.5(APC):c.4074G>T (p.Ala1358=) http://identifiers.org/clinvar/265514 ^@ NM_000251.2(MSH2):c.1759+13_1759+15delGAAinsATGTTCTAATAATT http://identifiers.org/clinvar/265263 ^@ NM_003165.3(STXBP1):c.1277T>C (p.Leu426Pro) http://identifiers.org/clinvar/265211 ^@ NM_020822.2(KCNT1):c.1426T>C (p.Trp476Arg) http://identifiers.org/clinvar/265159 ^@ NM_012193.3(FZD4):c.288delC (p.Phe97Serfs) http://identifiers.org/clinvar/265059 ^@ NM_000059.3(BRCA2):c.6727delT (p.Ser2243Leufs) http://identifiers.org/clinvar/265109 ^@ NM_001083614.1(EARS2):c.1547G>A (p.Arg516Gln) http://identifiers.org/clinvar/265665 ^@ NM_013275.5(ANKRD11):c.1652G>A (p.Trp551Ter) http://identifiers.org/clinvar/265314 ^@ NM_006087.3(TUBB4A):c.785G>A (p.Arg262His) http://identifiers.org/clinvar/265615 ^@ NM_015338.5(ASXL1):c.3144_3145delTG (p.Asp1049Hisfs) http://identifiers.org/clinvar/265364 ^@ NM_006031.5(PCNT):c.7819C>T (p.Arg2607Ter) http://identifiers.org/clinvar/265565 ^@ NM_007194.3(CHEK2):c.1461+1G>A http://identifiers.org/clinvar/265414 ^@ NM_004006.2(DMD):c.3259C>T (p.Gln1087Ter) http://identifiers.org/clinvar/265464 ^@ NM_005183.3(CACNA1F):c.1873C>T (p.Arg625Ter) http://identifiers.org/clinvar/265747 ^@ NM_024818.4(UBA5):c.855C>A (p.Tyr285Ter) http://identifiers.org/clinvar/265844 ^@ NM_012343.3(NNT):c.211C>T (p.Arg71Ter) http://identifiers.org/clinvar/265904 ^@ NM_000527.4(LDLR):c.1830_1839delCTTGGCCGTC (p.Ala612Argfs) http://identifiers.org/clinvar/265955 ^@ NM_198947.3(FAM111B):c.1874C>A (p.Thr625Asn) http://identifiers.org/clinvar/266009 ^@ NM_000495.4(COL4A5):c.2766delA (p.Gly923Valfs) http://identifiers.org/clinvar/266086 ^@ NM_198428.2(BBS9):c.956delC (p.Thr319Asnfs) http://identifiers.org/clinvar/266386 ^@ NM_007294.3(BRCA1):c.3571delA (p.Ser1191Alafs) http://identifiers.org/clinvar/266336 ^@ NM_007294.3(BRCA1):c.3115delG (p.Ala1039Profs) http://identifiers.org/clinvar/266286 ^@ NM_007294.3(BRCA1):c.2637delA (p.Glu880Argfs) http://identifiers.org/clinvar/266136 ^@ NM_007294.3(BRCA1):c.1054delG (p.Glu352Asnfs) http://identifiers.org/clinvar/266186 ^@ NM_007294.3(BRCA1):c.176C>A (p.Ser59Ter) http://identifiers.org/clinvar/266236 ^@ NM_007294.3(BRCA1):c.22_50del29 (p.Val8Tyrfs) http://identifiers.org/clinvar/267476 ^@ NC_000016.9:g.(?_88230961)_(89363602_?)del http://identifiers.org/clinvar/267532 ^@ NM_007294.3(BRCA1):c.4357+1_4357+10del http://identifiers.org/clinvar/267862 ^@ 46;XY;t(1;3)(p22;q21)dn http://identifiers.org/clinvar/267962 ^@ 46;XY;t(20;22)(q13.3;q11.2) http://identifiers.org/clinvar/268012 ^@ 46;XX;t(X;19)(p11.4;q13.3) http://identifiers.org/clinvar/268065 ^@ NC_000018.9:g.(?_354264)_(1851122_?)dup http://identifiers.org/clinvar/268128 ^@ NM_000930.4(PLAT):c.102_103delCA (p.Arg35Ilefs) http://identifiers.org/clinvar/268196 ^@ NC_000010.10:g.(?_68199177)_(68348456_?)del http://identifiers.org/clinvar/279608 ^@ NM_030813.5(CLPB):c.1501G>A (p.Glu501Lys) http://identifiers.org/clinvar/290915 ^@ NM_015295.2(SMCHD1):c.5597G>A (p.Arg1866Gln) http://identifiers.org/clinvar/290965 ^@ NM_020630.4(RET):c.2418C>G (p.Tyr806Ter) http://identifiers.org/clinvar/291015 ^@ NM_005603.4(ATP8B1):c.276T>C (p.Tyr92=) http://identifiers.org/clinvar/291065 ^@ NM_020631.4(PLEKHG5):c.753C>T (p.Ser251=) http://identifiers.org/clinvar/291115 ^@ NM_001243766.1(POMGNT1):c.1457G>T (p.Arg486Leu) http://identifiers.org/clinvar/291166 ^@ NM_000552.4(VWF):c.1330G>A (p.Val444Ile) http://identifiers.org/clinvar/291216 ^@ NM_004369.3(COL6A3):c.1502C>T (p.Thr501Ile) http://identifiers.org/clinvar/291266 ^@ NM_018849.2(ABCB4):c.2708_2710delTTA (p.Ile903del) http://identifiers.org/clinvar/291381 ^@ NM_001918.3(DBT):c.*8642C>G http://identifiers.org/clinvar/291431 ^@ NM_001918.3(DBT):c.*2653_*2656delAAAT http://identifiers.org/clinvar/291673 ^@ NM_004565.2(PEX14):c.274C>G (p.Pro92Ala) http://identifiers.org/clinvar/291773 ^@ NM_006610.3(MASP2):c.*219C>T http://identifiers.org/clinvar/291723 ^@ NM_005272.3(GNAT2):c.257G>A (p.Arg86Gln) http://identifiers.org/clinvar/291623 ^@ NM_015074.3(KIF1B):c.*2412A>G http://identifiers.org/clinvar/291823 ^@ NM_013319.2(UBIAD1):c.370C>A (p.Arg124=) http://identifiers.org/clinvar/292073 ^@ NM_138959.2(VANGL1):c.*4089delT http://identifiers.org/clinvar/292023 ^@ NM_138959.2(VANGL1):c.*416G>A http://identifiers.org/clinvar/291923 ^@ NM_003051.3(SLC16A1):c.-317C>G http://identifiers.org/clinvar/291973 ^@ NM_002524.4(NRAS):c.*346G>A http://identifiers.org/clinvar/292123 ^@ NM_001232.3(CASQ2):c.*457C>T http://identifiers.org/clinvar/292173 ^@ NM_005957.4(MTHFR):c.*3288C>T http://identifiers.org/clinvar/292223 ^@ NM_005957.4(MTHFR):c.*372A>C http://identifiers.org/clinvar/292273 ^@ NM_000198.3(HSD3B2):c.*202A>G http://identifiers.org/clinvar/292323 ^@ NM_005518.3(HMGCS2):c.*332A>C http://identifiers.org/clinvar/336974 ^@ NM_003494.3(DYSF):c.4815C>T (p.Ile1605=) http://identifiers.org/clinvar/337024 ^@ NM_015120.4(ALMS1):c.7328T>A (p.Val2443Asp) http://identifiers.org/clinvar/337074 ^@ NM_004082.4(DCTN1):c.3490A>G (p.Thr1164Ala) http://identifiers.org/clinvar/345603 ^@ NM_000316.2(PTH1R):c.*127dupA http://identifiers.org/clinvar/337224 ^@ NM_000821.6(GGCX):c.*1916C>T http://identifiers.org/clinvar/345753 ^@ NM_002222.5(ITPR1):c.5946G>A (p.Leu1982=) http://identifiers.org/clinvar/337274 ^@ NM_000821.6(GGCX):c.507T>C (p.Phe169=) http://identifiers.org/clinvar/337324 ^@ NM_003896.3(ST3GAL5):c.*482G>A http://identifiers.org/clinvar/337374 ^@ NM_022912.2(REEP1):c.*1278A>G http://identifiers.org/clinvar/345853 ^@ NM_000094.3(COL7A1):c.3975+11C>T http://identifiers.org/clinvar/337424 ^@ NM_004836.6(EIF2AK3):c.-172C>T http://identifiers.org/clinvar/346003 ^@ NM_002292.3(LAMB2):c.1831C>T (p.Leu611=) http://identifiers.org/clinvar/346153 ^@ NM_052859.3(RFT1):c.*2366T>A http://identifiers.org/clinvar/337474 ^@ NM_017849.3(TMEM127):c.*1849T>G http://identifiers.org/clinvar/337624 ^@ NM_001079.3(ZAP70):c.-81T>G http://identifiers.org/clinvar/337574 ^@ NM_014014.4(SNRNP200):c.-114T>C http://identifiers.org/clinvar/345553 ^@ NM_147196.2(TMIE):c.*687C>T http://identifiers.org/clinvar/345703 ^@ NM_015175.2(NBEAL2):c.*244C>G http://identifiers.org/clinvar/345903 ^@ NM_002222.5(ITPR1):c.*539_*540dupAT http://identifiers.org/clinvar/346103 ^@ NM_004656.3(BAP1):c.*1164G>C http://identifiers.org/clinvar/346203 ^@ NM_052859.3(RFT1):c.-16G>T http://identifiers.org/clinvar/346253 ^@ NM_003392.4(WNT5A):c.*1440T>C http://identifiers.org/clinvar/347592 ^@ NM_031296.2(RAB33B):c.*2599A>G http://identifiers.org/clinvar/347642 ^@ NM_172250.2(MMAA):c.*2372T>A http://identifiers.org/clinvar/346303 ^@ NM_001457.3(FLNB):c.825C>T (p.Ala275=) http://identifiers.org/clinvar/346453 ^@ NM_198859.3(PRICKLE2):c.*1568C>T http://identifiers.org/clinvar/347842 ^@ NM_001080522.2(CC2D2A):c.2731T>C (p.Phe911Leu) http://identifiers.org/clinvar/346503 ^@ NM_000248.3(MITF):c.*23C>T http://identifiers.org/clinvar/348142 ^@ NM_000320.2(QDPR):c.*468A>C http://identifiers.org/clinvar/346703 ^@ NM_002942.4(ROBO2):c.3057A>G (p.Gln1019=) http://identifiers.org/clinvar/346803 ^@ NM_014043.3(CHMP2B):c.-38C>T http://identifiers.org/clinvar/358709 ^@ NM_001127500.2(MET):c.*944A>G http://identifiers.org/clinvar/358809 ^@ NM_006193.2(PAX4):c.-62G>A http://identifiers.org/clinvar/359259 ^@ NM_014141.5(CNTNAP2):c.*3921G>A http://identifiers.org/clinvar/363297 ^@ NM_006269.1(RP1):c.4131C>T (p.Asp1377=) http://identifiers.org/clinvar/359459 ^@ NM_058246.3(DNAJB6):c.*88G>A http://identifiers.org/clinvar/363447 ^@ NM_017780.3(CHD7):c.1566C>T (p.Gly522=) http://identifiers.org/clinvar/359609 ^@ NM_001277115.1(DNAH11):c.2050A>T (p.Ser684Cys) http://identifiers.org/clinvar/363747 ^@ NM_018972.2(GDAP1):c.*1570G>C http://identifiers.org/clinvar/355870 ^@ NM_033071.3(SYNE1):c.14317C>A (p.Pro4773Thr) http://identifiers.org/clinvar/360448 ^@ NM_005228.4(EGFR):c.-237A>G http://identifiers.org/clinvar/360548 ^@ NM_000181.3(GUSB):c.*55C>T http://identifiers.org/clinvar/355770 ^@ NM_203395.2(IYD):c.*5190G>A http://identifiers.org/clinvar/356070 ^@ NM_198586.2(NHLRC1):c.*332G>T http://identifiers.org/clinvar/356220 ^@ NM_001109809.2(ZFP57):c.285C>T (p.Thr95=) http://identifiers.org/clinvar/360698 ^@ NM_000941.2(POR):c.369C>T (p.Ala123=) http://identifiers.org/clinvar/356020 ^@ NM_004562.2(PRKN):c.111G>A (p.Pro37=) http://identifiers.org/clinvar/360798 ^@ NM_000443.3(ABCB4):c.1970G>T (p.Gly657Val) http://identifiers.org/clinvar/356120 ^@ NM_000367.4(TPMT):c.141-10T>C http://identifiers.org/clinvar/356420 ^@ NM_001014.4(RPS10):c.364G>A (p.Ala122Thr) http://identifiers.org/clinvar/360848 ^@ NM_005751.4(AKAP9):c.10608-15G>C http://identifiers.org/clinvar/356170 ^@ NM_001080.3(ALDH5A1):c.*1407A>G http://identifiers.org/clinvar/360898 ^@ NM_194456.1(KRIT1):c.-441C>G http://identifiers.org/clinvar/365186 ^@ NM_001130438.2(SPTAN1):c.*148C>T http://identifiers.org/clinvar/365386 ^@ NM_000368.4(TSC1):c.*4763T>C http://identifiers.org/clinvar/361148 ^@ NM_015713.4(RRM2B):c.*2236A>T http://identifiers.org/clinvar/356470 ^@ NM_003322.5(TULP1):c.544A>G (p.Arg182Gly) http://identifiers.org/clinvar/361449 ^@ NM_001385.2(DPYS):c.856A>T (p.Asn286Tyr) http://identifiers.org/clinvar/365586 ^@ NM_014694.3(ADAMTSL2):c.954C>T (p.Asn318=) http://identifiers.org/clinvar/365636 ^@ NM_000787.3(DBH):c.407T>C (p.Val136Ala) http://identifiers.org/clinvar/356720 ^@ NM_002098.5(GUCA1B):c.*480G>A http://identifiers.org/clinvar/365886 ^@ NM_019892.5(INPP5E):c.1279+14T>C http://identifiers.org/clinvar/361499 ^@ NM_001715.2(BLK):c.*161C>G http://identifiers.org/clinvar/366037 ^@ NM_024757.4(EHMT1):c.*17G>A http://identifiers.org/clinvar/366137 ^@ NM_144966.5(FREM1):c.2818A>G (p.Arg940Gly) http://identifiers.org/clinvar/366287 ^@ NM_002451.3(MTAP):c.*1936C>T http://identifiers.org/clinvar/311187 ^@ NM_001846.3(COL4A2):c.4776G>T (p.Val1592=) http://identifiers.org/clinvar/366737 ^@ NM_004629.1(FANCG):c.161dupT (p.His55Profs) http://identifiers.org/clinvar/311387 ^@ NM_006783.4(GJB6):c.-122T>C http://identifiers.org/clinvar/367326 ^@ NM_017662.4(TRPM6):c.1014G>T (p.Met338Ile) http://identifiers.org/clinvar/311537 ^@ NM_014363.5(SACS):c.5932G>A (p.Val1978Ile) http://identifiers.org/clinvar/367476 ^@ NM_001698.2(AUH):c.951A>T (p.Pro317=) http://identifiers.org/clinvar/367526 ^@ NM_006415.3(SPTLC1):c.*1302T>G http://identifiers.org/clinvar/303628 ^@ NM_000890.3(KCNJ5):c.430A>G (p.Ile144Val) http://identifiers.org/clinvar/303728 ^@ NM_000525.3(KCNJ11):c.*99C>G http://identifiers.org/clinvar/303778 ^@ NM_000352.4(ABCC8):c.2041-12C>T http://identifiers.org/clinvar/311887 ^@ NM_001127217.2(SMAD9):c.*298_*301delACAG http://identifiers.org/clinvar/364097 ^@ NM_004612.3(TGFBR1):c.97+23_97+26dupGGCG http://identifiers.org/clinvar/367426 ^@ NM_033305.2(VPS13A):c.8766C>T (p.Ser2922=) http://identifiers.org/clinvar/304328 ^@ NM_000280.4(PAX6):c.*2412G>A http://identifiers.org/clinvar/298800 ^@ NM_001134363.2(RBM20):c.3162G>T (p.Glu1054Asp) http://identifiers.org/clinvar/304378 ^@ NM_024426.4(WT1):c.*1049_*1054dupGTGTGT http://identifiers.org/clinvar/304428 ^@ NM_024426.4(WT1):c.159C>G (p.Leu53=) http://identifiers.org/clinvar/304478 ^@ NM_003477.2(PDHX):c.*200T>C http://identifiers.org/clinvar/298950 ^@ NM_004281.3(BAG3):c.-285C>T http://identifiers.org/clinvar/304528 ^@ NM_000448.2(RAG1):c.*2211C>T http://identifiers.org/clinvar/304628 ^@ NM_021926.3(ALX4):c.*2991G>A http://identifiers.org/clinvar/304678 ^@ NM_021926.3(ALX4):c.*922T>G http://identifiers.org/clinvar/299150 ^@ NM_001609.3(ACADSB):c.*3597G>A http://identifiers.org/clinvar/313276 ^@ NM_018139.2(DNAAF2):c.2381C>T (p.Thr794Met) http://identifiers.org/clinvar/299200 ^@ NM_021980.4(OPTN):c.-232G>T http://identifiers.org/clinvar/298850 ^@ NM_001134363.2(RBM20):c.*2866C>T http://identifiers.org/clinvar/313526 ^@ NM_182914.2(SYNE2):c.6690C>T (p.His2230=) http://identifiers.org/clinvar/304878 ^@ NM_002334.3(LRP4):c.2570A>C (p.Asn857Thr) http://identifiers.org/clinvar/299400 ^@ NM_001081.3(CUBN):c.8599-8C>T http://identifiers.org/clinvar/299450 ^@ NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) http://identifiers.org/clinvar/299550 ^@ NM_001081.3(CUBN):c.-50G>A http://identifiers.org/clinvar/299600 ^@ NM_201590.2(CACNB2):c.*758_*761dupAAGT http://identifiers.org/clinvar/299700 ^@ NM_014317.4(PDSS1):c.941C>T (p.Ser314Leu) http://identifiers.org/clinvar/299750 ^@ NM_014915.2(ANKRD26):c.1269+7T>A http://identifiers.org/clinvar/299800 ^@ NM_032844.4(MASTL):c.2295T>C (p.Val765=) http://identifiers.org/clinvar/299500 ^@ NM_001081.3(CUBN):c.2656G>A (p.Glu886Lys) http://identifiers.org/clinvar/299650 ^@ NM_017433.4(MYO3A):c.938G>A (p.Gly313Asp) http://identifiers.org/clinvar/299950 ^@ NM_002900.2(RBP3):c.3707G>A (p.Arg1236Lys) http://identifiers.org/clinvar/315815 ^@ NM_002225.3(IVD):c.*808C>G http://identifiers.org/clinvar/315865 ^@ NM_144508.4(KNL1):c.4817A>T (p.His1606Leu) http://identifiers.org/clinvar/317805 ^@ NM_005236.2(ERCC4):c.840G>A (p.Lys280=) http://identifiers.org/clinvar/311237 ^@ NM_000131.4(F7):c.*425C>T http://identifiers.org/clinvar/311337 ^@ NM_021954.3(GJA3):c.1013C>T (p.Pro338Leu) http://identifiers.org/clinvar/318107 ^@ NM_002474.2(MYH11):c.4808C>T (p.Thr1603Met) http://identifiers.org/clinvar/318207 ^@ NM_014714.3(IFT140):c.685G>A (p.Ala229Thr) http://identifiers.org/clinvar/329888 ^@ NM_030973.3(MED25):c.2208C>T (p.Ser736=) http://identifiers.org/clinvar/310482 ^@ NM_024685.3(BBS10):c.*632T>C http://identifiers.org/clinvar/310837 ^@ NM_018979.3(WNK1):c.5481A>G (p.Thr1827=) http://identifiers.org/clinvar/337924 ^@ NM_198994.2(TGM6):c.1216G>A (p.Glu406Lys) http://identifiers.org/clinvar/337974 ^@ NM_014588.5(VSX1):c.-197G>A http://identifiers.org/clinvar/310887 ^@ NM_004115.3(FGF14):c.*471A>C http://identifiers.org/clinvar/311087 ^@ NM_001845.5(COL4A1):c.-90G>T http://identifiers.org/clinvar/311137 ^@ NM_001846.3(COL4A2):c.1945C>T (p.Pro649Ser) http://identifiers.org/clinvar/311287 ^@ NM_021954.3(GJA3):c.*3166C>T http://identifiers.org/clinvar/311587 ^@ NM_018451.4(CENPJ):c.*755_*758dupACTT http://identifiers.org/clinvar/313026 ^@ NM_025152.2(NUBPL):c.384C>T (p.Ser128=) http://identifiers.org/clinvar/313226 ^@ NM_020937.3(FANCM):c.5177C>T (p.Pro1726Leu) http://identifiers.org/clinvar/313326 ^@ NM_002863.4(PYGL):c.1196G>A (p.Arg399Gln) http://identifiers.org/clinvar/313476 ^@ NM_182914.2(SYNE2):c.-209A>T http://identifiers.org/clinvar/311937 ^@ NM_207361.5(FREM2):c.335A>G (p.Asn112Ser) http://identifiers.org/clinvar/313576 ^@ NM_182914.2(SYNE2):c.12610G>T (p.Gly4204Cys) http://identifiers.org/clinvar/312037 ^@ NM_207361.5(FREM2):c.9184G>T (p.Ala3062Ser) http://identifiers.org/clinvar/313626 ^@ NM_182914.2(SYNE2):c.16605+10A>G http://identifiers.org/clinvar/313676 ^@ NM_182914.2(SYNE2):c.*219T>G http://identifiers.org/clinvar/339714 ^@ NM_172201.1(KCNE2):c.-85G>A http://identifiers.org/clinvar/339764 ^@ NM_000219.5(KCNE1):c.*456C>T http://identifiers.org/clinvar/321307 ^@ NM_000135.2(FANCA):c.*843C>T http://identifiers.org/clinvar/321407 ^@ NM_002386.3(MC1R):c.-338C>T http://identifiers.org/clinvar/340114 ^@ NM_000100.3(CSTB):c.*435G>A http://identifiers.org/clinvar/314126 ^@ NM_031427.3(DNAL1):c.*6162T>C http://identifiers.org/clinvar/340264 ^@ NM_130445.3(COL18A1):c.3231A>G (p.Pro1077=) http://identifiers.org/clinvar/321711 ^@ NM_002470.3(MYH3):c.5660A>G (p.Asp1887Gly) http://identifiers.org/clinvar/340314 ^@ NM_001848.2(COL6A1):c.1208C>G (p.Pro403Arg) http://identifiers.org/clinvar/326449 ^@ NM_177986.4(DSG4):c.2731T>C (p.Tyr911His) http://identifiers.org/clinvar/326499 ^@ NM_001943.4(DSG2):c.*351C>A http://identifiers.org/clinvar/326799 ^@ NM_015559.2(SETBP1):c.*3288C>G http://identifiers.org/clinvar/326849 ^@ NM_144612.6(LOXHD1):c.3236A>G (p.Tyr1079Cys) http://identifiers.org/clinvar/328588 ^@ NM_005535.2(IL12RB1):c.1094T>C (p.Met365Thr) http://identifiers.org/clinvar/327049 ^@ NM_001080467.2(MYO5B):c.2223T>G (p.Phe741Leu) http://identifiers.org/clinvar/328838 ^@ NM_001863.4(COX6B1):c.-133A>G http://identifiers.org/clinvar/327149 ^@ NM_005359.5(SMAD4):c.*2914C>T http://identifiers.org/clinvar/328888 ^@ NM_003332.3(TYROBP):c.*140T>C http://identifiers.org/clinvar/327199 ^@ NM_005359.5(SMAD4):c.*5551A>G http://identifiers.org/clinvar/329088 ^@ NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) http://identifiers.org/clinvar/329138 ^@ NM_000540.2(RYR1):c.14670G>C (p.Val4890=) http://identifiers.org/clinvar/329288 ^@ NM_181882.2(PRX):c.471G>A (p.Glu157=) http://identifiers.org/clinvar/329338 ^@ NM_030578.3(B9D2):c.*68G>A http://identifiers.org/clinvar/329388 ^@ NM_001022.3(RPS19):c.-1+14C>T http://identifiers.org/clinvar/329788 ^@ NM_000146.3(FTL):c.*24C>T http://identifiers.org/clinvar/328238 ^@ NM_000455.4(STK11):c.*372C>T http://identifiers.org/clinvar/337724 ^@ NM_000214.2(JAG1):c.*1093_*1097delTATCA http://identifiers.org/clinvar/337774 ^@ NM_000214.2(JAG1):c.-482G>A http://identifiers.org/clinvar/329238 ^@ NM_016941.3(DLL3):c.1356C>T (p.Val452=) http://identifiers.org/clinvar/329438 ^@ NM_152296.4(ATP1A3):c.-186G>A http://identifiers.org/clinvar/338674 ^@ NM_000311.4(PRNP):c.*1466G>C http://identifiers.org/clinvar/329688 ^@ NM_025136.3(OPA3):c.-86G>A http://identifiers.org/clinvar/329838 ^@ NM_017636.3(TRPM4):c.-107G>T http://identifiers.org/clinvar/339864 ^@ NM_001754.4(RUNX1):c.*484T>C http://identifiers.org/clinvar/339964 ^@ NM_000411.6(HLCS):c.1180-12T>C http://identifiers.org/clinvar/337824 ^@ NM_024411.4(PDYN):c.*556C>T http://identifiers.org/clinvar/340014 ^@ NM_020639.2(RIPK4):c.2008G>A (p.Gly670Ser) http://identifiers.org/clinvar/337874 ^@ NM_000361.2(THBD):c.*321G>T http://identifiers.org/clinvar/340064 ^@ NM_024022.2(TMPRSS3):c.-79A>G http://identifiers.org/clinvar/340164 ^@ NM_000211.4(ITGB2):c.847G>A (p.Asp283Asn) http://identifiers.org/clinvar/338074 ^@ NM_015338.5(ASXL1):c.-32G>C http://identifiers.org/clinvar/338124 ^@ NM_015338.5(ASXL1):c.*278G>A http://identifiers.org/clinvar/338224 ^@ NM_003098.2(SNTA1):c.-186C>T http://identifiers.org/clinvar/340364 ^@ NM_001849.3(COL6A2):c.901-10C>T http://identifiers.org/clinvar/340715 ^@ NM_014339.6(IL17RA):c.*4657_*4662delTCCCAG http://identifiers.org/clinvar/340865 ^@ NM_004782.3(SNAP29):c.*1543A>C http://identifiers.org/clinvar/340965 ^@ NM_022081.5(HPS4):c.*1613C>A http://identifiers.org/clinvar/339814 ^@ NM_001754.4(RUNX1):c.*3138C>G http://identifiers.org/clinvar/341804 ^@ NM_001429.3(EP300):c.4026-7T>C http://identifiers.org/clinvar/339914 ^@ NM_000411.6(HLCS):c.*3161G>T http://identifiers.org/clinvar/341904 ^@ NM_000262.2(NAGA):c.1013T>C (p.Leu338Ser) http://identifiers.org/clinvar/377569 ^@ NM_004333.4(BRAF):c.2128-4G>T http://identifiers.org/clinvar/390505 ^@ NM_017617.4(NOTCH1):c.5019-13A>G http://identifiers.org/clinvar/387216 ^@ NM_001003800.1(BICD2):c.*20G>A http://identifiers.org/clinvar/386816 ^@ NM_015570.3(AUTS2):c.3169G>A (p.Gly1057Ser) http://identifiers.org/clinvar/390055 ^@ NM_173551.4(ANKS6):c.2593C>T (p.Pro865Ser) http://identifiers.org/clinvar/387166 ^@ NM_000256.3(MYBPC3):c.905+11G>T http://identifiers.org/clinvar/377619 ^@ NM_201590.2(CACNB2):c.-79628G>T http://identifiers.org/clinvar/389255 ^@ NM_020987.4(ANK3):c.1882G>A (p.Ala628Thr) http://identifiers.org/clinvar/379368 ^@ NM_006158.4(NEFL):c.-37A>C http://identifiers.org/clinvar/385627 ^@ NM_000742.3(CHRNA2):c.1260G>A (p.Glu420=) http://identifiers.org/clinvar/389555 ^@ NM_000051.3(ATM):c.5151C>T (p.Tyr1717=) http://identifiers.org/clinvar/377519 ^@ NM_000051.3(ATM):c.5918+16A>G http://identifiers.org/clinvar/378019 ^@ NM_000218.2(KCNQ1):c.1656C>T (p.Leu552=) http://identifiers.org/clinvar/386916 ^@ NM_021957.3(GYS2):c.1899A>G (p.Gly633=) http://identifiers.org/clinvar/390155 ^@ NM_032667.6(BSCL2):c.578T>A (p.Val193Glu) http://identifiers.org/clinvar/377719 ^@ NM_000093.4(COL5A1):c.36G>C (p.Ala12=) http://identifiers.org/clinvar/389605 ^@ NM_000075.3(CDK4):c.78C>T (p.Pro26=) http://identifiers.org/clinvar/389655 ^@ NM_003276.2(TMPO):c.1050A>G (p.Gln350=) http://identifiers.org/clinvar/391844 ^@ NM_006231.3(POLE):c.6255G>A (p.Glu2085=) http://identifiers.org/clinvar/387766 ^@ NM_014252.3(SLC25A15):c.-32C>T http://identifiers.org/clinvar/383225 ^@ NM_001376.4(DYNC1H1):c.8178-17G>A http://identifiers.org/clinvar/377819 ^@ NM_001376.4(DYNC1H1):c.11409G>A (p.Pro3803=) http://identifiers.org/clinvar/383174 ^@ NM_014191.3(SCN8A):c.992+10T>A http://identifiers.org/clinvar/389955 ^@ NM_000138.4(FBN1):c.6038-8T>A http://identifiers.org/clinvar/392444 ^@ NM_002474.2(MYH11):c.5787-4709C>A http://identifiers.org/clinvar/387116 ^@ NM_025137.3(SPG11):c.1126A>G (p.Asn376Asp) http://identifiers.org/clinvar/389205 ^@ NM_007103.3(NDUFV1):c.732C>T (p.Asn244=) http://identifiers.org/clinvar/384977 ^@ NM_030813.5(CLPB):c.1625A>T (p.Glu542Val) http://identifiers.org/clinvar/378221 ^@ NM_000260.3(MYO7A):c.4018G>A (p.Ala1340Thr) http://identifiers.org/clinvar/386666 ^@ NM_002968.2(SALL1):c.1950C>T (p.Gly650=) http://identifiers.org/clinvar/391794 ^@ NM_020312.3(COQ9):c.26C>T (p.Ala9Val) http://identifiers.org/clinvar/387016 ^@ NM_004360.4(CDH1):c.49-7A>G http://identifiers.org/clinvar/47931 ^@ NM_144612.6(LOXHD1):c.286C>T (p.Arg96Trp) http://identifiers.org/clinvar/47981 ^@ NM_153676.3(USH1C):c.1740T>C (p.Pro580=) http://identifiers.org/clinvar/48033 ^@ NM_005572.3(LMNA):c.1185G>A (p.Ser395=) http://identifiers.org/clinvar/48083 ^@ NM_170707.3(LMNA):c.78C>T (p.Ile26=) http://identifiers.org/clinvar/48133 ^@ NM_173477.4(USH1G):c.510C>G (p.Ala170=) http://identifiers.org/clinvar/48183 ^@ NM_194248.2(OTOF):c.2010C>T (p.Asn670=) http://identifiers.org/clinvar/48233 ^@ NM_194248.2(OTOF):c.4332C>T (p.Thr1444=) http://identifiers.org/clinvar/48283 ^@ NM_000335.4(SCN5A):c.1347C>A (p.Thr449=) http://identifiers.org/clinvar/48384 ^@ NM_206933.2(USH2A):c.11907A>T (p.Pro3969=) http://identifiers.org/clinvar/48434 ^@ NM_206933.2(USH2A):c.14315C>T (p.Ser4772Phe) http://identifiers.org/clinvar/48484 ^@ NM_206933.2(USH2A):c.2137G>C (p.Gly713Arg) http://identifiers.org/clinvar/99 ^@ TCN2, 2,152-BP DEL AND 4-BP INS http://identifiers.org/clinvar/314 ^@ NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) http://identifiers.org/clinvar/342 ^@ NF1, 80-KB DEL http://identifiers.org/clinvar/416 ^@ RNASET2, 15-BP DEL http://identifiers.org/clinvar/425 ^@ NM_030773.3(TUBB1):c.952C>T (p.Arg318Trp) http://identifiers.org/clinvar/515 ^@ NDUFA11, IVS1DS, G-A, +5 http://identifiers.org/clinvar/584 ^@ NM_000277.1(PAH):c.754C>T (p.Arg252Trp) http://identifiers.org/clinvar/593 ^@ NM_000277.1(PAH):c.1241A>G (p.Tyr414Cys) http://identifiers.org/clinvar/602 ^@ NM_000277.1(PAH):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/806 ^@ NM_000038.5(APC):c.1621C>T (p.Gln541Ter) http://identifiers.org/clinvar/962 ^@ NM_000275.2(OCA2):c.913C>T (p.Arg305Trp) http://identifiers.org/clinvar/976 ^@ NM_032322.3(RNF135):c.742delC (p.Leu248Serfs) http://identifiers.org/clinvar/999 ^@ NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(10_32) http://identifiers.org/clinvar/1121 ^@ NM_017875.2(SLC25A38):c.277-1G>A http://identifiers.org/clinvar/1130 ^@ NM_030803.6(ATG16L1):c.898A>G (p.Thr300Ala) http://identifiers.org/clinvar/1171 ^@ NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) http://identifiers.org/clinvar/1216 ^@ NM_032581.3(FAM126A):c.158T>C (p.Leu53Pro) http://identifiers.org/clinvar/1267 ^@ B3GALTL, 1-BP INS, 230T http://identifiers.org/clinvar/1311 ^@ NM_001174089.1(SLC4A11):c.2558G>A (p.Arg853His) http://identifiers.org/clinvar/1357 ^@ NM_170740.1(ALDH5A1):c.612G>A (p.Trp204Ter) http://identifiers.org/clinvar/1402 ^@ NM_153609.3(TMPRSS6):c.2140+1G>C http://identifiers.org/clinvar/1448 ^@ NM_000190.3(HMBS):c.463C>T (p.Gln155Ter) http://identifiers.org/clinvar/1493 ^@ NM_001039141.2(TRIOBP):c.2362C>T (p.Arg788Ter) http://identifiers.org/clinvar/1539 ^@ NM_000237.2(LPL):c.829G>A (p.Asp277Asn) http://identifiers.org/clinvar/1584 ^@ NM_001127255.1(NLRP7):c.352+1G>A http://identifiers.org/clinvar/1633 ^@ NM_000018.3(ACADVL):c.1246G>A (p.Ala416Thr) http://identifiers.org/clinvar/1679 ^@ NM_005908.3(MANBA):c.1513T>C (p.Ser505Pro) http://identifiers.org/clinvar/1723 ^@ NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) http://identifiers.org/clinvar/1775 ^@ NM_001191061.1(SLC25A22):c.617C>T (p.Pro206Leu) http://identifiers.org/clinvar/242818 ^@ NM_015046.5(SETX):c.1807A>G (p.Asn603Asp) http://identifiers.org/clinvar/2629 ^@ NM_001037633.1(SIL1):c.936dupG (p.Leu313Alafs) http://identifiers.org/clinvar/2675 ^@ NM_182760.3(SUMF1):c.1033C>T (p.Arg345Cys) http://identifiers.org/clinvar/3088 ^@ NM_000487.5(ARSA):c.1462C>T (p.Gln488Ter) http://identifiers.org/clinvar/3188 ^@ DYM, IVS7AS, A-G, -2 http://identifiers.org/clinvar/3234 ^@ NM_013382.5(POMT2):c.248+5G>C http://identifiers.org/clinvar/3281 ^@ NM_024529.4(CDC73):c.13_30del18 (p.Leu5_Gln10del) http://identifiers.org/clinvar/3326 ^@ NM_020436.4(SALL4):c.1849C>T (p.Arg617Ter) http://identifiers.org/clinvar/10894 ^@ FTSJ1, EX9DEL http://identifiers.org/clinvar/10939 ^@ CYBB, IVS1, T-C, +6 http://identifiers.org/clinvar/10985 ^@ NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) http://identifiers.org/clinvar/11029 ^@ NHS, 500-KB TRIPLICATION http://identifiers.org/clinvar/11074 ^@ NM_001128834.2(PLP1):c.487T>C (p.Trp163Arg) http://identifiers.org/clinvar/11119 ^@ NM_000377.2(WAS):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/11165 ^@ CD40LG, 63-BP DEL http://identifiers.org/clinvar/11255 ^@ NM_004006.2(DMD):c.3188G>A (p.Trp1063Ter) http://identifiers.org/clinvar/11346 ^@ NM_000061.2(BTK):c.1082A>G (p.Tyr361Cys) http://identifiers.org/clinvar/11391 ^@ BTK, 6-BP INS, NT2041 http://identifiers.org/clinvar/12058 ^@ F10, G-A, -20 http://identifiers.org/clinvar/12158 ^@ -4C-T, PRO105LEU, AND PRO453SER http://identifiers.org/clinvar/12213 ^@ NM_000490.4(AVP):c.161G>T (p.Gly54Val) http://identifiers.org/clinvar/12264 ^@ NM_003361.3(UMOD):c.817G>T (p.Val273Phe) http://identifiers.org/clinvar/12316 ^@ DDR2, IVS17, G-A, +1 http://identifiers.org/clinvar/12367 ^@ NM_000546.5(TP53):c.974G>T (p.Gly325Val) http://identifiers.org/clinvar/12418 ^@ TNNT2, 3-BP DEL, 285GGA http://identifiers.org/clinvar/12469 ^@ NM_001159287.1(TPI1):c.478G>A (p.Gly160Arg) http://identifiers.org/clinvar/12519 ^@ NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) http://identifiers.org/clinvar/12569 ^@ NM_001128177.1(THRB):c.1009A>G (p.Thr337Ala) http://identifiers.org/clinvar/12620 ^@ NM_001063.3(TF):c.1429G>C (p.Ala477Pro) http://identifiers.org/clinvar/12670 ^@ NM_002734.4(PRKAR1A):c.-7+1G>A http://identifiers.org/clinvar/12721 ^@ NM_000367.2(TPMT):c.238G>C (p.Ala80Pro) http://identifiers.org/clinvar/12772 ^@ NM_002354.2(EPCAM):c.426-1G>A http://identifiers.org/clinvar/12822 ^@ NM_003106.3(SOX2):c.138T>G (p.Asn46Lys) http://identifiers.org/clinvar/12873 ^@ NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) http://identifiers.org/clinvar/12923 ^@ NM_000702.3(ATP1A2):c.1033A>G (p.Thr345Ala) http://identifiers.org/clinvar/12973 ^@ NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) http://identifiers.org/clinvar/13024 ^@ NM_000539.3(RHO):c.404G>T (p.Arg135Leu) http://identifiers.org/clinvar/13075 ^@ NM_000321.2(RB1):c.1049+1G>T http://identifiers.org/clinvar/13126 ^@ NM_000537.3(REN):c.47T>G (p.Leu16Arg) http://identifiers.org/clinvar/13177 ^@ NM_000322.4(PRPH2):c.113delG (p.Gly38Aspfs) http://identifiers.org/clinvar/13228 ^@ NM_000055.3(BCHE):c.1004T>C (p.Leu335Pro) http://identifiers.org/clinvar/13279 ^@ NM_000141.4(FGFR2):c.755_756delCGinsTT (p.Ser252Phe) http://identifiers.org/clinvar/13330 ^@ NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly) http://identifiers.org/clinvar/13380 ^@ NM_000207.2(INS):c.266G>A (p.Arg89His) http://identifiers.org/clinvar/13435 ^@ NM_000371.3(TTR):c.233T>G (p.Leu78Arg) http://identifiers.org/clinvar/13486 ^@ NM_000217.2(KCNA1):c.676A>G (p.Thr226Ala) http://identifiers.org/clinvar/38614 ^@ NM_020630.4(RET):c.2752A>G (p.Met918Val) http://identifiers.org/clinvar/39156 ^@ NM_198578.3(LRRK2):c.2857T>C (p.Leu953=) http://identifiers.org/clinvar/39257 ^@ NM_207352.3(CYP4V2):c.1445C>A (p.Ser482Ter) http://identifiers.org/clinvar/39416 ^@ TK2, 8-BP DUP http://identifiers.org/clinvar/39470 ^@ ABCC8, EX13DEL http://identifiers.org/clinvar/39521 ^@ NM_006364.3(SEC23A):c.2104A>G (p.Met702Val) http://identifiers.org/clinvar/39571 ^@ NM_001168272.1(ITPR1):c.4639G>A (p.Val1547Met) http://identifiers.org/clinvar/39623 ^@ NM_001396.3(DYRK1A):c.1098+1G>A http://identifiers.org/clinvar/39673 ^@ DDHD1, GLN417TER http://identifiers.org/clinvar/39725 ^@ NM_000431.3(MVK):c.500C>T (p.Pro167Leu) http://identifiers.org/clinvar/39776 ^@ NM_080629.2(COL11A1):c.3852+1G>A http://identifiers.org/clinvar/39827 ^@ NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu) http://identifiers.org/clinvar/39970 ^@ NM_182978.3(GNAL):c.514dupT (p.Ser172Phefs) http://identifiers.org/clinvar/40070 ^@ NM_001080463.1(DYNC2H1):c.988C>T (p.Arg330Cys) http://identifiers.org/clinvar/40222 ^@ NM_004333.4(BRAF):c.89_100delGCGCCGGCGCCG (p.Gly30_Ala33del) http://identifiers.org/clinvar/40361 ^@ NM_004333.4(BRAF):c.1315-18T>G http://identifiers.org/clinvar/40427 ^@ NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) http://identifiers.org/clinvar/40498 ^@ NM_002834.4(PTPN11):c.205G>C (p.Glu69Gln) http://identifiers.org/clinvar/40554 ^@ NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) http://identifiers.org/clinvar/40614 ^@ NM_002880.3(RAF1):c.1193G>T (p.Arg398Leu) http://identifiers.org/clinvar/40693 ^@ NM_005633.3(SOS1):c.1987A>G (p.Ile663Val) http://identifiers.org/clinvar/40781 ^@ NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) http://identifiers.org/clinvar/40981 ^@ NM_000084.4(CLCN5):c.1537G>A (p.Gly513Arg) http://identifiers.org/clinvar/41039 ^@ NM_001079.3(ZAP70):c.837+121G>A http://identifiers.org/clinvar/41095 ^@ NM_003611.2(OFD1):c.224A>C (p.Asn75Thr) http://identifiers.org/clinvar/41151 ^@ NM_003611.2(OFD1):c.858delG (p.Arg286Serfs) http://identifiers.org/clinvar/41202 ^@ NM_003977.3(AIP):c.742_744delTAC (p.Tyr248del) http://identifiers.org/clinvar/51162 ^@ NM_000059.3(BRCA2):c.1636delT (p.Cys546Alafs) http://identifiers.org/clinvar/51213 ^@ NM_000059.3(BRCA2):c.1851dupA (p.Ala618Serfs) http://identifiers.org/clinvar/51265 ^@ NM_000059.3(BRCA2):c.227C>G (p.Ser76Ter) http://identifiers.org/clinvar/51316 ^@ NM_000059.3(BRCA2):c.2612delCinsTTT (p.Ser871Phefs) http://identifiers.org/clinvar/51366 ^@ NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) http://identifiers.org/clinvar/51621 ^@ NM_000059.3(BRCA2):c.426-37T>A http://identifiers.org/clinvar/51673 ^@ NM_000059.3(BRCA2):c.4558A>G (p.Thr1520Ala) http://identifiers.org/clinvar/51725 ^@ NM_000059.3(BRCA2):c.4845_4846delCT (p.Leu1616Lysfs) http://identifiers.org/clinvar/51777 ^@ NM_000059.3(BRCA2):c.5131delG (p.Val1711Terfs) http://identifiers.org/clinvar/51828 ^@ NM_000059.3(BRCA2):c.5249C>T (p.Ser1750Phe) http://identifiers.org/clinvar/52635 ^@ NM_000059.3(BRCA2):c.8620G>T (p.Glu2874Ter) http://identifiers.org/clinvar/52686 ^@ NM_000059.3(BRCA2):c.8821C>T (p.Gln2941Ter) http://identifiers.org/clinvar/52736 ^@ NM_000059.3(BRCA2):c.9059C>G (p.Ser3020Cys) http://identifiers.org/clinvar/52788 ^@ NM_000059.3(BRCA2):c.9256G>T (p.Gly3086Ter) http://identifiers.org/clinvar/52839 ^@ NM_000059.3(BRCA2):c.9455A>G (p.Glu3152Gly) http://identifiers.org/clinvar/52889 ^@ NM_000059.3(BRCA2):c.9676delT (p.Tyr3226Ilefs) http://identifiers.org/clinvar/52939 ^@ NM_000218.2(KCNQ1):c.1032G>C (p.Ala344=) http://identifiers.org/clinvar/52989 ^@ NM_000218.2(KCNQ1):c.153C>G (p.Tyr51Ter) http://identifiers.org/clinvar/53039 ^@ NM_000218.2(KCNQ1):c.365G>A (p.Cys122Tyr) http://identifiers.org/clinvar/53089 ^@ NM_000218.2(KCNQ1):c.716T>C (p.Leu239Pro) http://identifiers.org/clinvar/53140 ^@ NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) http://identifiers.org/clinvar/53192 ^@ NM_000492.3(CFTR):c.1117-27_1117-26delTA http://identifiers.org/clinvar/53245 ^@ NM_000492.3(CFTR):c.1397C>T (p.Ser466Leu) http://identifiers.org/clinvar/53295 ^@ NM_000492.3(CFTR):c.1597T>C (p.Phe533Leu) http://identifiers.org/clinvar/53346 ^@ NM_000492.3(CFTR):c.169T>C (p.Trp57Arg) http://identifiers.org/clinvar/53396 ^@ NM_000492.3(CFTR):c.1820_1903del84 (p.Met607_Gln634del) http://identifiers.org/clinvar/53448 ^@ NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) http://identifiers.org/clinvar/53501 ^@ NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter) http://identifiers.org/clinvar/53551 ^@ NM_000492.3(CFTR):c.2736dupG (p.Tyr913Valfs) http://identifiers.org/clinvar/53601 ^@ NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) http://identifiers.org/clinvar/53653 ^@ NM_000492.3(CFTR):c.310delA (p.Arg104Glufs) http://identifiers.org/clinvar/53704 ^@ NM_000492.3(CFTR):c.3287delT (p.Leu1096Argfs) http://identifiers.org/clinvar/53754 ^@ NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) http://identifiers.org/clinvar/53805 ^@ NM_000492.3(CFTR):c.3761T>G (p.Leu1254Ter) http://identifiers.org/clinvar/53859 ^@ NM_000492.3(CFTR):c.393delT (p.Phe131Leufs) http://identifiers.org/clinvar/53910 ^@ NM_000492.3(CFTR):c.416A>T (p.His139Leu) http://identifiers.org/clinvar/54903 ^@ NM_007294.3(BRCA1):c.3503dupA (p.Asn1168Lysfs) http://identifiers.org/clinvar/54955 ^@ NM_007294.3(BRCA1):c.3652A>T (p.Ser1218Cys) http://identifiers.org/clinvar/55360 ^@ NM_007294.3(BRCA1):c.5040delT (p.Thr1681Leufs) http://identifiers.org/clinvar/55410 ^@ NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) http://identifiers.org/clinvar/55460 ^@ NM_007294.3(BRCA1):c.520delC (p.Gln174Lysfs) http://identifiers.org/clinvar/55513 ^@ NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys) http://identifiers.org/clinvar/55563 ^@ NM_007294.3(BRCA1):c.5406+4A>G http://identifiers.org/clinvar/55613 ^@ NM_007294.3(BRCA1):c.5522G>A (p.Ser1841Asn) http://identifiers.org/clinvar/55665 ^@ NM_007294.3(BRCA1):c.678T>A (p.Cys226Ter) http://identifiers.org/clinvar/55716 ^@ NM_007294.3(BRCA1):c.81-2A>G http://identifiers.org/clinvar/55767 ^@ NM_007294.3(BRCA1):c.964G>C (p.Ala322Pro) http://identifiers.org/clinvar/242665 ^@ NM_001142864.3(PIEZO1):c.2344G>A (p.Gly782Ser) http://identifiers.org/clinvar/55839 ^@ NM_145038.4(DRC1):c.2056A>T (p.Lys686Ter) http://identifiers.org/clinvar/55917 ^@ NM_207037.1(TCF12):c.1912C>G (p.Gln638Glu) http://identifiers.org/clinvar/55975 ^@ NM_000111.2(SLC26A3):c.1487T>G (p.Leu496Arg) http://identifiers.org/clinvar/56028 ^@ NM_000112.3(SLC26A2):c.705_711delGATGGGC (p.Met236Serfs) http://identifiers.org/clinvar/56079 ^@ NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) http://identifiers.org/clinvar/56133 ^@ NM_000274.3(OAT):c.698A>G (p.Gln233Arg) http://identifiers.org/clinvar/56184 ^@ NM_000310.3(PPT1):c.235-3T>C http://identifiers.org/clinvar/56234 ^@ NM_000481.3(AMT):c.535delC (p.Leu179Cysfs) http://identifiers.org/clinvar/56285 ^@ NM_001042432.1(CLN3):c.582G>T (p.Leu194=) http://identifiers.org/clinvar/56337 ^@ NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter) http://identifiers.org/clinvar/56388 ^@ NM_002299.3(LCT):c.4087G>A (p.Gly1363Ser) http://identifiers.org/clinvar/56439 ^@ NM_004646.3(NPHS1):c.1394G>A (p.Cys465Tyr) http://identifiers.org/clinvar/56489 ^@ NM_004646.3(NPHS1):c.2816-4_2822delATAGGCCGCCC http://identifiers.org/clinvar/56540 ^@ NM_006493.2(CLN5):c.593T>C (p.Leu198Pro) http://identifiers.org/clinvar/56593 ^@ NM_017739.3(POMGNT1):c.1895+1G>T http://identifiers.org/clinvar/56648 ^@ NM_017890.4(VPS13B):c.1844-2A>G http://identifiers.org/clinvar/56698 ^@ NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) http://identifiers.org/clinvar/56748 ^@ NM_030943.3(AMN):c.1314_1315delCA (p.His438Glnfs) http://identifiers.org/clinvar/56824 ^@ NM_001135937.2(SMAD2):c.694+1G>A http://identifiers.org/clinvar/57008 ^@ GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1 http://identifiers.org/clinvar/125642 ^@ NM_007294.3(BRCA1):c.3620dupA (p.Lys1208Glufs) http://identifiers.org/clinvar/125709 ^@ NM_007294.3(BRCA1):c.4357+17A>G http://identifiers.org/clinvar/125776 ^@ NM_007294.3(BRCA1):c.5152+6T>A http://identifiers.org/clinvar/125848 ^@ NM_007294.3(BRCA1):c.5407-2A>T http://identifiers.org/clinvar/125906 ^@ NM_007294.3(BRCA1):c.671-15T>A http://identifiers.org/clinvar/125974 ^@ NM_000059.3(BRCA2):c.-12T>C http://identifiers.org/clinvar/126033 ^@ NM_000059.3(BRCA2):c.4014_4015insGG (p.Ser1339Glyfs) http://identifiers.org/clinvar/126108 ^@ NM_000059.3(BRCA2):c.6535_6536ins8 http://identifiers.org/clinvar/126167 ^@ NM_000059.3(BRCA2):c.8187G>A (p.Lys2729=) http://identifiers.org/clinvar/126233 ^@ NM_001080522.2(CC2D2A):c.247+26A>G http://identifiers.org/clinvar/126283 ^@ NM_024809.4(TCTN2):c.1128T>C (p.Pro376=) http://identifiers.org/clinvar/126334 ^@ NM_020732.3(ARID1B):c.4632G>A (p.Pro1544=) http://identifiers.org/clinvar/126390 ^@ NM_016381.5(TREX1):c.223dupG (p.Glu75Glyfs) http://identifiers.org/clinvar/126458 ^@ NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14) http://identifiers.org/clinvar/126520 ^@ NM_005228.4(EGFR):c.2176G>A (p.Val726Met) http://identifiers.org/clinvar/126595 ^@ NM_024675.3(PALB2):c.1250C>A (p.Ser417Tyr) http://identifiers.org/clinvar/126646 ^@ NM_024675.3(PALB2):c.2323C>T (p.Gln775Ter) http://identifiers.org/clinvar/126697 ^@ NM_024675.3(PALB2):c.2982dupT (p.Ala995Cysfs) http://identifiers.org/clinvar/126747 ^@ NM_024675.3(PALB2):c.3539T>C (p.Ile1180Thr) http://identifiers.org/clinvar/126798 ^@ NM_000321.2(RB1):c.2209G>T (p.Glu737Ter) http://identifiers.org/clinvar/126851 ^@ NM_004996.3(ABCC1):c.1913-718G>T http://identifiers.org/clinvar/126908 ^@ NM_007194.3(CHEK2):c.1201A>G (p.Thr401Ala) http://identifiers.org/clinvar/126958 ^@ NM_000428.2(LTBP2):c.4912G>A (p.Val1638Met) http://identifiers.org/clinvar/127008 ^@ NM_002485.4(NBN):c.1579G>T (p.Asp527Tyr) http://identifiers.org/clinvar/127058 ^@ NM_001641.3(APEX1):c.-326G>A http://identifiers.org/clinvar/127116 ^@ NM_005051.2(QARS):c.1207C>T (p.Arg403Trp) http://identifiers.org/clinvar/127634 ^@ NM_000251.2(MSH2):c.1724A>G (p.Asp575Gly) http://identifiers.org/clinvar/160792 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 http://identifiers.org/clinvar/160843 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 http://identifiers.org/clinvar/160895 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 http://identifiers.org/clinvar/160947 ^@ GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 http://identifiers.org/clinvar/160997 ^@ GRCh38/hg38 6p25.3(chr6:259528-389482)x1 http://identifiers.org/clinvar/161048 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 http://identifiers.org/clinvar/161098 ^@ NM_030777.3(SLC2A10):c.756C>A (p.Cys252Ter) http://identifiers.org/clinvar/161148 ^@ NM_152296.4(ATP1A3):c.2767G>T (p.Asp923Tyr) http://identifiers.org/clinvar/161380 ^@ NM_001035.2(RYR2):c.7493C>T (p.Ala2498Val) http://identifiers.org/clinvar/161230 ^@ NM_000118.3(ENG):c.1274C>T (p.Ala425Val) http://identifiers.org/clinvar/161280 ^@ NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) http://identifiers.org/clinvar/161330 ^@ NM_000531.5(OTC):c.385C>T (p.Arg129Cys) http://identifiers.org/clinvar/161446 ^@ NM_001999.3(FBN2):c.3740T>C (p.Met1247Thr) http://identifiers.org/clinvar/161549 ^@ NM_001168221.1(C2CD6):c.5255T>C (p.Leu1752Ser) http://identifiers.org/clinvar/161849 ^@ NM_183393.2(CADPS):c.484G>A (p.Ala162Thr) http://identifiers.org/clinvar/161699 ^@ NM_016112.2(PKD2L1):c.70G>A (p.Ala24Thr) http://identifiers.org/clinvar/161749 ^@ NM_021229.3(NTN4):c.823C>T (p.His275Tyr) http://identifiers.org/clinvar/161499 ^@ NM_001029864.1(KIAA1755):c.3089G>T (p.Gly1030Val) http://identifiers.org/clinvar/161799 ^@ NM_080829.3(RIPOR3):c.55G>A (p.Val19Met) http://identifiers.org/clinvar/162021 ^@ NM_012203.1(GRHPR):c.248_249delTG (p.Val83Glyfs) http://identifiers.org/clinvar/162083 ^@ NM_002887.3(RARS):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/162142 ^@ GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1 http://identifiers.org/clinvar/165695 ^@ NM_001256850.1(TTN):c.92541T>C (p.Ser30847=) http://identifiers.org/clinvar/165858 ^@ NM_133378.4(TTN):c.62921T>C (p.Met20974Thr) http://identifiers.org/clinvar/165955 ^@ NM_133378.4(TTN):c.49528A>G (p.Thr16510Ala) http://identifiers.org/clinvar/165290 ^@ NM_005633.3(SOS1):c.-15C>T http://identifiers.org/clinvar/165205 ^@ NM_000542.3(SFTPB):c.327G>A (p.Glu109=) http://identifiers.org/clinvar/165143 ^@ NM_198056.2(SCN5A):c.3378A>G (p.Pro1126=) http://identifiers.org/clinvar/163657 ^@ NM_001080476.2(GRXCR1):c.*13C>G http://identifiers.org/clinvar/164806 ^@ NM_016616.4(NME8):c.1603T>C (p.Leu535=) http://identifiers.org/clinvar/199031 ^@ NM_000512.4(GALNS):c.953T>G (p.Met318Arg) http://identifiers.org/clinvar/200934 ^@ NM_170707.3(LMNA):c.398G>A (p.Arg133Gln) http://identifiers.org/clinvar/201240 ^@ NM_001035.2(RYR2):c.3625G>A (p.Val1209Met) http://identifiers.org/clinvar/201408 ^@ NM_001035.2(RYR2):c.8579_8584delTGGAGT (p.Leu2860_Glu2861del) http://identifiers.org/clinvar/201293 ^@ NM_001035.2(RYR2):c.9358G>C (p.Asp3120His) http://identifiers.org/clinvar/201184 ^@ NM_001035.2(RYR2):c.12826G>A (p.Val4276Met) http://identifiers.org/clinvar/201351 ^@ NM_001035.2(RYR2):c.13666G>C (p.Ala4556Pro) http://identifiers.org/clinvar/201521 ^@ NM_198056.2(SCN5A):c.4870G>A (p.Val1624Ile) http://identifiers.org/clinvar/201462 ^@ NM_198056.2(SCN5A):c.1889C>T (p.Thr630Met) http://identifiers.org/clinvar/201574 ^@ NM_198056.2(SCN5A):c.940T>C (p.Tyr314His) http://identifiers.org/clinvar/199911 ^@ NM_004415.3(DSP):c.8476C>T (p.Arg2826Cys) http://identifiers.org/clinvar/200713 ^@ NM_000238.3(KCNH2):c.3470dupC (p.Ser1159Glnfs) http://identifiers.org/clinvar/200462 ^@ NM_000238.3(KCNH2):c.2693-2A>T http://identifiers.org/clinvar/200297 ^@ NM_000238.3(KCNH2):c.670G>A (p.Gly224Arg) http://identifiers.org/clinvar/200608 ^@ NM_000238.3(KCNH2):c.572delC (p.Pro191Argfs) http://identifiers.org/clinvar/200874 ^@ NM_000218.2(KCNQ1):c.477+1G>A http://identifiers.org/clinvar/200821 ^@ NM_000218.2(KCNQ1):c.757T>C (p.Ser253Pro) http://identifiers.org/clinvar/201003 ^@ NM_130799.2(MEN1):c.1651delC (p.Leu551Serfs) http://identifiers.org/clinvar/200192 ^@ NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr) http://identifiers.org/clinvar/200079 ^@ NM_000138.4(FBN1):c.6274T>C (p.Trp2092Arg) http://identifiers.org/clinvar/200024 ^@ NM_000138.4(FBN1):c.3718G>A (p.Asp1240Asn) http://identifiers.org/clinvar/199969 ^@ NM_000138.4(FBN1):c.1468+2T>C http://identifiers.org/clinvar/200139 ^@ NM_000138.4(FBN1):c.212G>C (p.Trp71Ser) http://identifiers.org/clinvar/201117 ^@ NM_002474.2(MYH11):c.5422G>A (p.Val1808Ile) http://identifiers.org/clinvar/201064 ^@ NM_002474.2(MYH11):c.3562C>T (p.Arg1188Trp) http://identifiers.org/clinvar/201634 ^@ NM_001103.3(ACTN2):c.794C>T (p.Ala265Val) http://identifiers.org/clinvar/201854 ^@ NM_007078.2(LDB3):c.1799G>A (p.Arg600Gln) http://identifiers.org/clinvar/201690 ^@ NM_003476.4(CSRP3):c.508+18C>T http://identifiers.org/clinvar/201800 ^@ NM_020433.4(JPH2):c.1090C>T (p.Gln364Ter) http://identifiers.org/clinvar/201744 ^@ NM_004006.2(DMD):c.1823C>T (p.Ala608Val) http://identifiers.org/clinvar/203075 ^@ NM_001256850.1(TTN):c.99124C>G (p.Leu33042Val) http://identifiers.org/clinvar/203025 ^@ NM_001256850.1(TTN):c.92228T>C (p.Val30743Ala) http://identifiers.org/clinvar/202975 ^@ NM_001256850.1(TTN):c.86182A>C (p.Ile28728Leu) http://identifiers.org/clinvar/202925 ^@ NM_001256850.1(TTN):c.79999C>A (p.Gln26667Lys) http://identifiers.org/clinvar/202875 ^@ NM_001256850.1(TTN):c.72029T>C (p.Val24010Ala) http://identifiers.org/clinvar/202522 ^@ NM_001256850.1(TTN):c.71708G>A (p.Trp23903Ter) http://identifiers.org/clinvar/202825 ^@ NM_001256850.1(TTN):c.65468G>T (p.Gly21823Val) http://identifiers.org/clinvar/231203 ^@ NM_000038.5(APC):c.6344T>G (p.Leu2115Ter) http://identifiers.org/clinvar/230314 ^@ NM_005732.3(RAD50):c.113A>G (p.Asn38Ser) http://identifiers.org/clinvar/229714 ^@ NM_005732.3(RAD50):c.539T>G (p.Phe180Cys) http://identifiers.org/clinvar/229814 ^@ NM_005732.3(RAD50):c.2386G>A (p.Glu796Lys) http://identifiers.org/clinvar/231803 ^@ NM_005732.3(RAD50):c.3011T>C (p.Met1004Thr) http://identifiers.org/clinvar/231053 ^@ NM_000535.6(PMS2):c.1906G>A (p.Ala636Thr) http://identifiers.org/clinvar/234246 ^@ NM_002485.4(NBN):c.1651dupA (p.Arg551Lysfs) http://identifiers.org/clinvar/230364 ^@ NM_002485.4(NBN):c.510A>G (p.Pro170=) http://identifiers.org/clinvar/232904 ^@ NM_000051.3(ATM):c.238C>T (p.Pro80Ser) http://identifiers.org/clinvar/229864 ^@ NM_000051.3(ATM):c.1911A>G (p.Gln637=) http://identifiers.org/clinvar/234196 ^@ NM_000051.3(ATM):c.2264G>T (p.Cys755Phe) http://identifiers.org/clinvar/232453 ^@ NM_000051.3(ATM):c.2678A>G (p.Gln893Arg) http://identifiers.org/clinvar/232353 ^@ NM_000051.3(ATM):c.3285-5T>C http://identifiers.org/clinvar/233996 ^@ NM_000051.3(ATM):c.3617_3621delTAGAAinsG (p.Leu1206Trpfs) http://identifiers.org/clinvar/230064 ^@ NM_000051.3(ATM):c.4247A>G (p.Gln1416Arg) http://identifiers.org/clinvar/232003 ^@ NM_000051.3(ATM):c.5737G>A (p.Val1913Met) http://identifiers.org/clinvar/232053 ^@ NM_000051.3(ATM):c.5748_5750delGAG (p.Met1916_Arg1917delinsIle) http://identifiers.org/clinvar/232103 ^@ NM_000051.3(ATM):c.7765A>G (p.Lys2589Glu) http://identifiers.org/clinvar/232153 ^@ NM_000051.3(ATM):c.8204_8205dupGT (p.Asn2736Valfs) http://identifiers.org/clinvar/231903 ^@ NM_000051.3(ATM):c.9002G>A (p.Ser3001Asn) http://identifiers.org/clinvar/230014 ^@ NM_005591.3(MRE11):c.659+1G>A http://identifiers.org/clinvar/229914 ^@ NM_000059.3(BRCA2):c.1182A>G (p.Glu394=) http://identifiers.org/clinvar/231503 ^@ NM_000059.3(BRCA2):c.1858T>C (p.Phe620Leu) http://identifiers.org/clinvar/231603 ^@ NM_000059.3(BRCA2):c.2585A>G (p.Lys862Arg) http://identifiers.org/clinvar/230414 ^@ NM_000059.3(BRCA2):c.7683G>C (p.Gln2561His) http://identifiers.org/clinvar/234096 ^@ NM_000059.3(BRCA2):c.10212_10213delTG (p.Cys3404Terfs) http://identifiers.org/clinvar/231753 ^@ NM_024675.3(PALB2):c.2437A>G (p.Ile813Val) http://identifiers.org/clinvar/229964 ^@ NM_004360.4(CDH1):c.2178G>A (p.Leu726=) http://identifiers.org/clinvar/234146 ^@ NM_004360.4(CDH1):c.2545A>G (p.Asn849Asp) http://identifiers.org/clinvar/229664 ^@ NM_001042492.2(NF1):c.1296G>A (p.Val432=) http://identifiers.org/clinvar/231303 ^@ NM_001042492.2(NF1):c.2597C>T (p.Pro866Leu) http://identifiers.org/clinvar/230164 ^@ NM_001042492.2(NF1):c.4899A>G (p.Pro1633=) http://identifiers.org/clinvar/232203 ^@ NM_007294.3(BRCA1):c.442C>T (p.Gln148Ter) http://identifiers.org/clinvar/231403 ^@ NM_032043.2(BRIP1):c.3396T>C (p.Phe1132=) http://identifiers.org/clinvar/231703 ^@ NM_032043.2(BRIP1):c.2180C>T (p.Pro727Leu) http://identifiers.org/clinvar/232253 ^@ NM_032043.2(BRIP1):c.793A>T (p.Arg265Trp) http://identifiers.org/clinvar/231653 ^@ NM_032043.2(BRIP1):c.627+5G>A http://identifiers.org/clinvar/231453 ^@ NM_032043.2(BRIP1):c.104G>C (p.Gly35Ala) http://identifiers.org/clinvar/231953 ^@ NM_000546.5(TP53):c.1099A>G (p.Ser367Gly) http://identifiers.org/clinvar/231553 ^@ NM_000546.5(TP53):c.964C>A (p.Pro322Thr) http://identifiers.org/clinvar/233946 ^@ NM_000546.5(TP53):c.657_668delCTATGAGCCGCC (p.Tyr220_Pro223del) http://identifiers.org/clinvar/234934 ^@ NM_001302946.1(TRNT1):c.1192dupA (p.Ser398Lysfs) http://identifiers.org/clinvar/235071 ^@ NM_133378.4(TTN):c.56984delC (p.Pro18995Leufs) http://identifiers.org/clinvar/235021 ^@ NM_000256.3(MYBPC3):c.497T>G (p.Val166Gly) http://identifiers.org/clinvar/235206 ^@ NM_000424.3(KRT5):c.631G>A (p.Val211Met) http://identifiers.org/clinvar/235260 ^@ NC_012920.1:m.8704A>G http://identifiers.org/clinvar/235314 ^@ NM_000419.4(ITGA2B):c.1545-8C>A http://identifiers.org/clinvar/236192 ^@ NM_000162.3(GCK):c.112C>T (p.Gln38Ter) http://identifiers.org/clinvar/236280 ^@ NM_000059.3(BRCA2):c.6588_6589delAA (p.Lys2196Asnfs) http://identifiers.org/clinvar/236331 ^@ NC_000011.8:g.70520567_70966737dup446171 http://identifiers.org/clinvar/236381 ^@ NC_000014.8:g.79047822_79520101del472280 http://identifiers.org/clinvar/236532 ^@ NM_206933.2(USH2A):c.6104G>A (p.Cys2035Tyr) http://identifiers.org/clinvar/236432 ^@ NM_152443.2(RDH12):c.910T>C (p.Trp304Arg) http://identifiers.org/clinvar/236482 ^@ NM_001034853.1(RPGR):c.808C>T (p.Gln270Ter) http://identifiers.org/clinvar/239432 ^@ NM_003000.2(SDHB):c.529C>A (p.Arg177Ser) http://identifiers.org/clinvar/239129 ^@ NM_002354.2(EPCAM):c.491+10A>G http://identifiers.org/clinvar/237388 ^@ NM_000251.2(MSH2):c.2322T>C (p.Ile774=) http://identifiers.org/clinvar/237137 ^@ NM_000179.2(MSH6):c.1524G>C (p.Val508=) http://identifiers.org/clinvar/237187 ^@ NM_000179.2(MSH6):c.3327T>C (p.Ile1109=) http://identifiers.org/clinvar/239532 ^@ NM_003242.5(TGFBR2):c.609C>T (p.Thr203=) http://identifiers.org/clinvar/237338 ^@ NM_000249.3(MLH1):c.38dupA (p.Thr14Aspfs) http://identifiers.org/clinvar/237238 ^@ NM_000222.2(KIT):c.1274T>A (p.Met425Lys) http://identifiers.org/clinvar/236582 ^@ NM_000038.5(APC):c.2807A>G (p.Asn936Ser) http://identifiers.org/clinvar/242232 ^@ NM_198253.2(TERT):c.2895G>A (p.Lys965=) http://identifiers.org/clinvar/239079 ^@ NM_001999.3(FBN2):c.2066C>G (p.Ala689Gly) http://identifiers.org/clinvar/238978 ^@ NM_001369.2(DNAH5):c.5114+1G>C http://identifiers.org/clinvar/237288 ^@ NM_000238.3(KCNH2):c.1128+7G>A http://identifiers.org/clinvar/238928 ^@ NM_001277115.1(DNAH11):c.6302A>G (p.Asn2101Ser) http://identifiers.org/clinvar/263031 ^@ NM_182925.4(FLT4):c.1815G>A (p.Pro605=) http://identifiers.org/clinvar/255403 ^@ NM_000163.4(GHR):c.137-35G>C http://identifiers.org/clinvar/260842 ^@ NM_017651.4(AHI1):c.2037-7T>C http://identifiers.org/clinvar/262181 ^@ NM_033071.3(SYNE1):c.2119-50G>A http://identifiers.org/clinvar/261142 ^@ NM_019105.6(TNXB):c.5679G>A (p.Thr1893=) http://identifiers.org/clinvar/260442 ^@ NM_014780.4(CUL7):c.861G>A (p.Gly287=) http://identifiers.org/clinvar/258142 ^@ NM_001458.4(FLNC):c.3867G>A (p.Thr1289=) http://identifiers.org/clinvar/261342 ^@ NM_020632.2(ATP6V0A4):c.1662C>T (p.Phe554=) http://identifiers.org/clinvar/260692 ^@ NM_016203.3(PRKAG2):c.-26C>T http://identifiers.org/clinvar/263131 ^@ NM_198428.2(BBS9):c.702+33A>G http://identifiers.org/clinvar/256842 ^@ NM_000941.2(POR):c.387A>G (p.Pro129=) http://identifiers.org/clinvar/254953 ^@ NM_000089.3(COL1A2):c.1645C>G (p.Pro549Ala) http://identifiers.org/clinvar/261292 ^@ NM_020476.2(ANK1):c.1590C>T (p.Ala530=) http://identifiers.org/clinvar/260892 ^@ NM_017780.3(CHD7):c.2096+49A>G http://identifiers.org/clinvar/261092 ^@ NM_019098.4(CNGB3):c.919A>G (p.Ile307Val) http://identifiers.org/clinvar/256642 ^@ NM_000550.2(TYRP1):c.1261+20C>T http://identifiers.org/clinvar/262431 ^@ NM_139025.4(ADAMTS13):c.1874G>A (p.Arg625His) http://identifiers.org/clinvar/255053 ^@ NM_000093.4(COL5A1):c.1674G>A (p.Arg558=) http://identifiers.org/clinvar/261192 ^@ NM_019892.5(INPP5E):c.1280-26T>C http://identifiers.org/clinvar/255453 ^@ NM_000170.2(GLDC):c.1545G>A (p.Arg515=) http://identifiers.org/clinvar/262381 ^@ NM_138691.2(TMC1):c.742-12G>A http://identifiers.org/clinvar/257342 ^@ NM_001080449.2(DNA2):c.1971G>A (p.Thr657=) http://identifiers.org/clinvar/260992 ^@ NM_018055.4(NODAL):c.607G>A (p.Glu203Lys) http://identifiers.org/clinvar/255503 ^@ NM_000195.4(HPS1):c.399-35G>A http://identifiers.org/clinvar/254753 ^@ NM_000051.3(ATM):c.4397_4398delGAinsCG (p.Arg1466Pro) http://identifiers.org/clinvar/262681 ^@ NM_152722.4(HEPACAM):c.652A>G (p.Met218Val) http://identifiers.org/clinvar/260792 ^@ NM_016952.4(CDON):c.3165T>C (p.Asn1055=) http://identifiers.org/clinvar/262731 ^@ NM_153676.3(USH1C):c.1414-34G>A http://identifiers.org/clinvar/260942 ^@ NM_017841.2(SDHAF2):c.261-42G>A http://identifiers.org/clinvar/256592 ^@ NM_000543.4(SMPD1):c.138_143delGCTGGC (p.Ala48_Leu49del) http://identifiers.org/clinvar/261242 ^@ NM_020376.3(PNPLA2):c.487-8C>T http://identifiers.org/clinvar/258092 ^@ NM_001414.3(EIF2B1):c.551+38C>A http://identifiers.org/clinvar/257142 ^@ NM_001025356.2(ANO6):c.1612+12C>G http://identifiers.org/clinvar/255753 ^@ NM_000289.5(PFKM):c.1819-39A>G http://identifiers.org/clinvar/256692 ^@ NM_000552.4(VWF):c.6798+14C>T http://identifiers.org/clinvar/255603 ^@ NM_000231.2(SGCG):c.579-22G>T http://identifiers.org/clinvar/261392 ^@ NM_020937.3(FANCM):c.6141T>C (p.Asp2047=) http://identifiers.org/clinvar/261492 ^@ NM_022067.3(VIPAS39):c.836+15A>G http://identifiers.org/clinvar/260492 ^@ NM_014967.4(FAN1):c.698G>A (p.Gly233Glu) http://identifiers.org/clinvar/255153 ^@ NM_000119.2(EPB42):c.420G>A (p.Ala140=) http://identifiers.org/clinvar/255303 ^@ NM_000138.4(FBN1):c.6163+50G>A http://identifiers.org/clinvar/255653 ^@ NM_000259.3(MYO5A):c.4239+20C>T http://identifiers.org/clinvar/335728 ^@ NM_004304.4(ALK):c.-415T>C http://identifiers.org/clinvar/335878 ^@ NM_014946.3(SPAST):c.*2264G>A http://identifiers.org/clinvar/335978 ^@ NM_005633.3(SOS1):c.*2983C>T http://identifiers.org/clinvar/335378 ^@ NM_000182.4(HADHA):c.1690-13G>A http://identifiers.org/clinvar/336128 ^@ NM_133259.3(LRPPRC):c.*1152C>G http://identifiers.org/clinvar/336228 ^@ NM_001430.4(EPAS1):c.-138G>T http://identifiers.org/clinvar/333537 ^@ NM_001044385.2(TMEM237):c.*2719G>A http://identifiers.org/clinvar/333187 ^@ NM_000534.4(PMS1):c.-302C>T http://identifiers.org/clinvar/333587 ^@ NM_020919.3(ALS2):c.4366G>C (p.Gly1456Arg) http://identifiers.org/clinvar/336435 ^@ NM_000179.2(MSH6):c.-118G>A http://identifiers.org/clinvar/333287 ^@ NM_007315.3(STAT1):c.714G>A (p.Glu238=) http://identifiers.org/clinvar/333737 ^@ NM_012092.3(ICOS):c.591G>A (p.Val197=) http://identifiers.org/clinvar/333387 ^@ NM_001006657.1(WDR35):c.2098C>T (p.Arg700Cys) http://identifiers.org/clinvar/336985 ^@ NM_003494.3(DYSF):c.*267C>G http://identifiers.org/clinvar/333687 ^@ NM_001204.6(BMPR2):c.*3350G>T http://identifiers.org/clinvar/333787 ^@ NM_005006.6(NDUFS1):c.262-15dupT http://identifiers.org/clinvar/337135 ^@ NM_013247.4(HTRA2):c.1046-13C>T http://identifiers.org/clinvar/336328 ^@ NM_139279.5(MCFD2):c.*3100C>G http://identifiers.org/clinvar/333887 ^@ NM_015040.3(PIKFYVE):c.307C>T (p.Arg103Cys) http://identifiers.org/clinvar/337235 ^@ NM_000821.6(GGCX):c.*898_*900delTTC http://identifiers.org/clinvar/334038 ^@ NM_001875.4(CPS1):c.*74T>C http://identifiers.org/clinvar/333937 ^@ NM_015040.3(PIKFYVE):c.5716-11C>A http://identifiers.org/clinvar/334289 ^@ NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=) http://identifiers.org/clinvar/337385 ^@ NM_022912.2(REEP1):c.*155T>C http://identifiers.org/clinvar/334088 ^@ NM_000384.2(APOB):c.11911G>A (p.Glu3971Lys) http://identifiers.org/clinvar/336585 ^@ NM_001135659.2(NRXN1):c.-1273G>A http://identifiers.org/clinvar/334339 ^@ NM_015488.4(PNKD):c.*680_*681dupTC http://identifiers.org/clinvar/336635 ^@ NM_001039348.2(EFEMP1):c.-60G>A http://identifiers.org/clinvar/337535 ^@ NM_014014.4(SNRNP200):c.5386C>T (p.Leu1796=) http://identifiers.org/clinvar/336785 ^@ NM_002056.3(GFPT1):c.*6016C>T http://identifiers.org/clinvar/334389 ^@ NM_025216.2(WNT10A):c.-194dupC http://identifiers.org/clinvar/337035 ^@ NM_015120.4(ALMS1):c.12001C>T (p.Pro4001Ser) http://identifiers.org/clinvar/337085 ^@ NM_004082.4(DCTN1):c.2002C>T (p.His668Tyr) http://identifiers.org/clinvar/337335 ^@ NM_003896.3(ST3GAL5):c.861A>T (p.Val287=) http://identifiers.org/clinvar/335228 ^@ NM_004321.7(KIF1A):c.*2160T>C http://identifiers.org/clinvar/335278 ^@ NM_004321.7(KIF1A):c.882+8G>A http://identifiers.org/clinvar/335428 ^@ NM_194248.2(OTOF):c.5650A>G (p.Lys1884Glu) http://identifiers.org/clinvar/335828 ^@ NM_014946.3(SPAST):c.55C>T (p.Pro19Ser) http://identifiers.org/clinvar/336078 ^@ NM_022437.2(ABCG8):c.1210delC (p.Arg404Valfs) http://identifiers.org/clinvar/335778 ^@ NM_000379.3(XDH):c.1901G>T (p.Cys634Phe) http://identifiers.org/clinvar/350544 ^@ NM_001182.4(ALDH7A1):c.*1749G>T http://identifiers.org/clinvar/357370 ^@ NM_138694.3(PKHD1):c.*2552_*2553dupAA http://identifiers.org/clinvar/357570 ^@ NM_001723.5(DST):c.4972A>G (p.Asn1658Asp) http://identifiers.org/clinvar/357820 ^@ NM_001851.4(COL9A1):c.-150T>C http://identifiers.org/clinvar/351933 ^@ NM_054027.4(ANKH):c.-276_-271dupCCGCCG http://identifiers.org/clinvar/351483 ^@ NM_054027.4(ANKH):c.*712G>C http://identifiers.org/clinvar/355831 ^@ NM_033071.3(SYNE1):c.21310-8dupT http://identifiers.org/clinvar/355881 ^@ NM_033071.3(SYNE1):c.11929T>G (p.Cys3977Gly) http://identifiers.org/clinvar/351733 ^@ NM_024577.3(SH3TC2):c.*9969_*9972delTATT http://identifiers.org/clinvar/351983 ^@ NM_000440.2(PDE6A):c.1954C>T (p.Arg652Cys) http://identifiers.org/clinvar/351783 ^@ NM_024577.3(SH3TC2):c.*6682G>C http://identifiers.org/clinvar/352131 ^@ NM_005211.3(CSF1R):c.2622A>C (p.Gln874His) http://identifiers.org/clinvar/352181 ^@ NM_005211.3(CSF1R):c.-25T>A http://identifiers.org/clinvar/359659 ^@ NM_001277115.1(DNAH11):c.8534G>A (p.Arg2845Gln) http://identifiers.org/clinvar/359709 ^@ NM_001277115.1(DNAH11):c.*193C>T http://identifiers.org/clinvar/352381 ^@ NM_000337.5(SGCD):c.*3961C>T http://identifiers.org/clinvar/359859 ^@ NM_004403.2(DFNA5):c.122_124delAGA (p.Lys41del) http://identifiers.org/clinvar/359909 ^@ NM_018947.5(CYCS):c.*2290G>A http://identifiers.org/clinvar/352231 ^@ NM_001135243.1(TCOF1):c.3625C>T (p.Pro1209Ser) http://identifiers.org/clinvar/352331 ^@ NM_000337.5(SGCD):c.-30G>A http://identifiers.org/clinvar/352431 ^@ NM_000337.5(SGCD):c.*6785C>T http://identifiers.org/clinvar/356870 ^@ NM_203290.3(POLR1C):c.70-7G>C http://identifiers.org/clinvar/360309 ^@ NM_014855.2(AP5Z1):c.394G>A (p.Val132Met) http://identifiers.org/clinvar/360459 ^@ NM_005228.4(EGFR):c.1554G>A (p.Pro518=) http://identifiers.org/clinvar/360509 ^@ NM_004577.3(PSPH):c.146G>A (p.Arg49Gln) http://identifiers.org/clinvar/360609 ^@ NM_153033.4(KCTD7):c.*1740G>A http://identifiers.org/clinvar/361009 ^@ NM_014251.2(SLC25A13):c.*72G>A http://identifiers.org/clinvar/357770 ^@ NM_018368.3(LMBRD1):c.1084-4delT http://identifiers.org/clinvar/361658 ^@ NM_000127.2(EXT1):c.1066G>A (p.Val356Ile) http://identifiers.org/clinvar/300200 ^@ NM_033056.3(PCDH15):c.706-17_706-14delGTTT http://identifiers.org/clinvar/300250 ^@ NM_000417.2(IL2RA):c.757G>A (p.Val253Ile) http://identifiers.org/clinvar/364447 ^@ NM_005502.3(ABCA1):c.1195-13C>T http://identifiers.org/clinvar/364497 ^@ NM_001079802.1(FKTN):c.*1018T>A http://identifiers.org/clinvar/364597 ^@ NM_005592.3(MUSK):c.80-8C>T http://identifiers.org/clinvar/307604 ^@ NM_012463.3(ATP6V0A2):c.*564T>C http://identifiers.org/clinvar/300750 ^@ NM_002658.4(PLAU):c.581C>T (p.Ala194Val) http://identifiers.org/clinvar/364647 ^@ NM_000031.5(ALAD):c.501G>A (p.Pro167=) http://identifiers.org/clinvar/364847 ^@ NM_000550.2(TYRP1):c.-70C>T http://identifiers.org/clinvar/307904 ^@ NM_019844.3(SLCO1B3):c.1347A>G (p.Ala449=) http://identifiers.org/clinvar/364797 ^@ NM_000177.4(GSN):c.276C>T (p.Gly92=) http://identifiers.org/clinvar/308104 ^@ NM_004985.4(KRAS):c.*1627dupT http://identifiers.org/clinvar/364997 ^@ NM_002316.3(LMX1B):c.*4331T>C http://identifiers.org/clinvar/301200 ^@ NM_000429.2(MAT1A):c.-81_-73dupGAAGAAGAA http://identifiers.org/clinvar/365247 ^@ NM_054012.3(ASS1):c.-171G>A http://identifiers.org/clinvar/301150 ^@ NM_001002295.1(GATA3):c.*1066C>T http://identifiers.org/clinvar/365347 ^@ NM_015046.5(SETX):c.6843-6_6843-5dupTT http://identifiers.org/clinvar/365097 ^@ NM_000118.3(ENG):c.-54C>A http://identifiers.org/clinvar/308604 ^@ NM_017641.3(KIF21A):c.-335C>G http://identifiers.org/clinvar/365147 ^@ NM_001003722.1(GLE1):c.*1005T>C http://identifiers.org/clinvar/365597 ^@ NM_014694.3(ADAMTSL2):c.1557C>T (p.Ser519=) http://identifiers.org/clinvar/365197 ^@ NM_014908.3(DOLK):c.513T>C (p.Leu171=) http://identifiers.org/clinvar/365647 ^@ NM_000787.3(DBH):c.807C>T (p.Cys269=) http://identifiers.org/clinvar/365397 ^@ NM_000368.4(TSC1):c.*4248C>A http://identifiers.org/clinvar/298311 ^@ NM_000195.4(HPS1):c.*1167G>A http://identifiers.org/clinvar/365547 ^@ NM_139025.4(ADAMTS13):c.1435+11C>T http://identifiers.org/clinvar/309643 ^@ NM_006121.3(KRT1):c.1475+14G>A http://identifiers.org/clinvar/309743 ^@ NM_015665.5(AAAS):c.11T>C (p.Leu4Pro) http://identifiers.org/clinvar/309843 ^@ NM_000456.2(SUOX):c.1282G>A (p.Ala428Thr) http://identifiers.org/clinvar/310243 ^@ NM_014319.4(LEMD3):c.*146A>G http://identifiers.org/clinvar/366637 ^@ NM_001497.3(B4GALT1):c.*829T>G http://identifiers.org/clinvar/310798 ^@ NM_005888.3(SLC25A3):c.474T>C (p.Tyr158=) http://identifiers.org/clinvar/302939 ^@ NM_015645.4(C1QTNF5):c.-199G>A http://identifiers.org/clinvar/366537 ^@ NM_203447.3(DOCK8):c.277G>T (p.Val93Leu) http://identifiers.org/clinvar/366587 ^@ NM_175073.2(APTX):c.*363C>T http://identifiers.org/clinvar/312587 ^@ NM_005708.4(GPC6):c.*1800T>G http://identifiers.org/clinvar/312637 ^@ NM_001376.4(DYNC1H1):c.7014+11T>A http://identifiers.org/clinvar/312737 ^@ NM_000270.3(PNP):c.*213C>G http://identifiers.org/clinvar/312787 ^@ NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) http://identifiers.org/clinvar/314726 ^@ NM_000369.2(TSHR):c.*1946C>T http://identifiers.org/clinvar/341065 ^@ NM_000268.3(NF2):c.-204C>A http://identifiers.org/clinvar/314876 ^@ NM_006329.3(FBLN5):c.714T>A (p.Leu238=) http://identifiers.org/clinvar/313137 ^@ NM_001079668.2(NKX2-1):c.*14C>T http://identifiers.org/clinvar/313187 ^@ NM_020937.3(FANCM):c.92G>T (p.Arg31Leu) http://identifiers.org/clinvar/314976 ^@ NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) http://identifiers.org/clinvar/341415 ^@ NM_004737.5(LARGE1):c.*856G>A http://identifiers.org/clinvar/322861 ^@ NM_004937.2(CTNS):c.*631T>C http://identifiers.org/clinvar/322911 ^@ NM_004937.2(CTNS):c.*2132G>A http://identifiers.org/clinvar/322961 ^@ NM_001004334.3(GPR179):c.*338G>A http://identifiers.org/clinvar/315376 ^@ NM_144599.4(NIPA1):c.*2497G>T http://identifiers.org/clinvar/341815 ^@ NM_001429.3(EP300):c.5262A>G (p.Ser1754=) http://identifiers.org/clinvar/315476 ^@ NM_000275.2(OCA2):c.216C>G (p.Leu72=) http://identifiers.org/clinvar/341965 ^@ NM_025225.2(PNPLA3):c.*1090A>G http://identifiers.org/clinvar/342115 ^@ NM_015166.3(MLC1):c.-226A>G http://identifiers.org/clinvar/323511 ^@ NM_000342.3(SLC4A1):c.1225G>A (p.Val409Ile) http://identifiers.org/clinvar/323611 ^@ NM_002055.4(GFAP):c.957G>A (p.Arg319=) http://identifiers.org/clinvar/367776 ^@ NM_002294.2(LAMP2):c.*853G>A http://identifiers.org/clinvar/323661 ^@ NM_005910.5(MAPT):c.*524G>A http://identifiers.org/clinvar/323711 ^@ NM_001123066.3(MAPT):c.*2972T>C http://identifiers.org/clinvar/323761 ^@ NM_001193466.1(KANSL1):c.*32_*35delACTA http://identifiers.org/clinvar/323811 ^@ NM_030753.4(WNT3):c.*128C>T http://identifiers.org/clinvar/323861 ^@ NM_004287.4(GOSR2):c.*2589T>C http://identifiers.org/clinvar/314276 ^@ NM_000428.2(LTBP2):c.4203G>A (p.Thr1401=) http://identifiers.org/clinvar/368226 ^@ NM_004006.2(DMD):c.*489_*492dupCACA http://identifiers.org/clinvar/314376 ^@ NM_001040108.1(MLH3):c.3405C>T (p.Ser1135=) http://identifiers.org/clinvar/368276 ^@ NM_022567.2(NYX):c.*157C>G http://identifiers.org/clinvar/368376 ^@ NM_153380.3(ZNF41):c.281A>G (p.His94Arg) http://identifiers.org/clinvar/314476 ^@ NM_004452.3(ESRRB):c.-292C>A http://identifiers.org/clinvar/314526 ^@ NM_013382.5(POMT2):c.*1501G>A http://identifiers.org/clinvar/368576 ^@ NM_006306.3(SMC1A):c.*1961C>T http://identifiers.org/clinvar/368726 ^@ NM_153252.4(BRWD3):c.3326-14delT http://identifiers.org/clinvar/317015 ^@ NM_014249.3(NR2E3):c.455C>T (p.Pro152Leu) http://identifiers.org/clinvar/324759 ^@ NM_031220.3(PITPNM3):c.838G>A (p.Ala280Thr) http://identifiers.org/clinvar/314926 ^@ NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) http://identifiers.org/clinvar/317115 ^@ NM_022369.3(STRA6):c.386T>C (p.Leu129Pro) http://identifiers.org/clinvar/317165 ^@ NM_003978.4(PSTPIP1):c.-367G>A http://identifiers.org/clinvar/315026 ^@ NM_000295.4(SERPINA1):c.587T>C (p.Leu196Ser) http://identifiers.org/clinvar/324909 ^@ NM_000346.3(SOX9):c.-56A>C http://identifiers.org/clinvar/315426 ^@ NM_144599.4(NIPA1):c.291C>G (p.Pro97=) http://identifiers.org/clinvar/317616 ^@ NM_000875.4(IGF1R):c.*5730_*5733delCTTT http://identifiers.org/clinvar/325259 ^@ NM_199242.2(UNC13D):c.1772C>T (p.Pro591Leu) http://identifiers.org/clinvar/325409 ^@ NM_024599.5(RHBDF2):c.*449C>T http://identifiers.org/clinvar/317766 ^@ NM_004862.3(LITAF):c.*723A>G http://identifiers.org/clinvar/325609 ^@ NM_006640.4(SEPT9):c.*1233C>T http://identifiers.org/clinvar/317866 ^@ NM_005236.2(ERCC4):c.*3125A>G http://identifiers.org/clinvar/317916 ^@ NM_001287.5(CLCN7):c.*1248G>A http://identifiers.org/clinvar/371881 ^@ NM_058195.3(CDKN2A):c.79A>C (p.Ile27Leu) http://identifiers.org/clinvar/371981 ^@ NM_007294.3(BRCA1):c.869T>A (p.Leu290Ter) http://identifiers.org/clinvar/373026 ^@ NM_000238.3(KCNH2):c.3152+1G>T http://identifiers.org/clinvar/373726 ^@ NM_014915.2(ANKRD26):c.556G>T (p.Ala186Ser) http://identifiers.org/clinvar/373676 ^@ NM_002312.3(LIG4):c.898G>A (p.Asp300Asn) http://identifiers.org/clinvar/373076 ^@ NM_005249.4(FOXG1):c.1160_1161delCGinsGTC (p.Ser387Cysfs) http://identifiers.org/clinvar/373526 ^@ NM_001271.3(CHD2):c.1876G>T (p.Asp626Tyr) http://identifiers.org/clinvar/373776 ^@ NM_001009944.2(PKD1):c.8369delC (p.Pro2790Argfs) http://identifiers.org/clinvar/373626 ^@ NM_001127221.1(CACNA1A):c.1198+1G>A http://identifiers.org/clinvar/373576 ^@ NM_172107.3(KCNQ2):c.1631G>A (p.Cys544Tyr) http://identifiers.org/clinvar/373826 ^@ NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) http://identifiers.org/clinvar/373876 ^@ NG_012772.3:g.(69667_84209)_(88292_?)del http://identifiers.org/clinvar/374179 ^@ NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter) http://identifiers.org/clinvar/374129 ^@ NM_080680.2(COL11A2):c.4430G>T (p.Gly1477Val) http://identifiers.org/clinvar/373979 ^@ NM_000441.1(SLC26A4):c.299T>C (p.Leu100Pro) http://identifiers.org/clinvar/373929 ^@ NM_001376.4(DYNC1H1):c.1802T>A (p.Ile601Asn) http://identifiers.org/clinvar/374079 ^@ NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe) http://identifiers.org/clinvar/374029 ^@ NM_024666.4(AAGAB):c.451+1G>T http://identifiers.org/clinvar/374233 ^@ NM_003709.3(KLF7):c.790G>A (p.Asp264Asn) http://identifiers.org/clinvar/374303 ^@ NM_002055.4(GFAP):c.215A>G (p.Glu72Gly) http://identifiers.org/clinvar/374353 ^@ NM_004992.3(MECP2):c.332G>A (p.Arg111Lys) http://identifiers.org/clinvar/374421 ^@ NM_199292.2(TH):c.381G>C (p.Leu127=) http://identifiers.org/clinvar/374471 ^@ NM_016381.5(TREX1):c.1088C>G (p.Ser363Cys) http://identifiers.org/clinvar/374521 ^@ NM_018849.2(ABCB4):c.217C>G (p.Leu73Val) http://identifiers.org/clinvar/374571 ^@ NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) http://identifiers.org/clinvar/374621 ^@ NM_001099922.2(ALG13):c.128G>A (p.Arg43Lys) http://identifiers.org/clinvar/374671 ^@ NM_002972.3(SBF1):c.2605G>A (p.Val869Met) http://identifiers.org/clinvar/374721 ^@ NM_001298.2(CNGA3):c.473C>T (p.Ala158Val) http://identifiers.org/clinvar/374771 ^@ NM_020822.2(KCNT1):c.1036-7C>T http://identifiers.org/clinvar/374831 ^@ NM_004341.4(CAD):c.5365C>T (p.Arg1789Ter) http://identifiers.org/clinvar/374881 ^@ NM_016011.3(MECR):c.854A>G (p.Tyr285Cys) http://identifiers.org/clinvar/374948 ^@ NM_000109.3(DMD):c.5465G>T (p.Arg1822Ile) http://identifiers.org/clinvar/375859 ^@ NM_005215.3(DCC):c.4028G>A (p.Arg1343His) http://identifiers.org/clinvar/375912 ^@ NM_000222.2(KIT):c.1676T>G (p.Val559Gly) http://identifiers.org/clinvar/379029 ^@ NM_000251.2(MSH2):c.1962C>T (p.Asp654=) http://identifiers.org/clinvar/382133 ^@ NM_000179.2(MSH6):c.1434T>C (p.Tyr478=) http://identifiers.org/clinvar/392544 ^@ NM_015120.4(ALMS1):c.2489A>G (p.His830Arg) http://identifiers.org/clinvar/379229 ^@ NM_015120.4(ALMS1):c.4247G>C (p.Gly1416Ala) http://identifiers.org/clinvar/392644 ^@ NM_139125.3(MASP1):c.1522G>A (p.Val508Met) http://identifiers.org/clinvar/382083 ^@ NM_205847.2(GMPPA):c.213C>T (p.Ala71=) http://identifiers.org/clinvar/381933 ^@ NM_000249.3(MLH1):c.1512T>C (p.Thr504=) http://identifiers.org/clinvar/379479 ^@ NM_000094.3(COL7A1):c.7219G>A (p.Gly2407Ser) http://identifiers.org/clinvar/390805 ^@ NM_000249.3(MLH1):c.306+17A>T http://identifiers.org/clinvar/390955 ^@ NM_006514.3(SCN10A):c.3585T>C (p.Phe1195=) http://identifiers.org/clinvar/388966 ^@ NM_001148.4(ANK2):c.991-11T>C http://identifiers.org/clinvar/391955 ^@ NM_015120.4(ALMS1):c.2539G>A (p.Gly847Arg) http://identifiers.org/clinvar/379629 ^@ NM_001148.4(ANK2):c.9286A>G (p.Ser3096Gly) http://identifiers.org/clinvar/379579 ^@ NM_000038.5(APC):c.2745G>A (p.Val915=) http://identifiers.org/clinvar/392794 ^@ NM_004168.3(SDHA):c.1403C>A (p.Ala468Asp) http://identifiers.org/clinvar/392694 ^@ NM_001999.3(FBN2):c.71A>G (p.Gln24Arg) http://identifiers.org/clinvar/378728 ^@ NM_003242.5(TGFBR2):c.263+17A>C http://identifiers.org/clinvar/390905 ^@ NM_002887.3(RARS):c.1917A>G (p.Glu639=) http://identifiers.org/clinvar/388266 ^@ NM_002887.3(RARS):c.-45C>T http://identifiers.org/clinvar/382735 ^@ NM_133433.3(NIPBL):c.1302G>C (p.Val434=) http://identifiers.org/clinvar/392744 ^@ NM_000426.3(LAMA2):c.711C>T (p.Ser237=) http://identifiers.org/clinvar/388816 ^@ NM_001457.3(FLNB):c.2453G>A (p.Arg818Gln) http://identifiers.org/clinvar/388016 ^@ NM_005045.3(RELN):c.5547T>C (p.Leu1849=) http://identifiers.org/clinvar/386827 ^@ NM_001148.4(ANK2):c.10947G>A (p.Met3649Ile) http://identifiers.org/clinvar/388316 ^@ NM_024582.4(FAT4):c.9804G>A (p.Val3268=) http://identifiers.org/clinvar/385327 ^@ NM_004415.3(DSP):c.3651G>A (p.Thr1217=) http://identifiers.org/clinvar/391705 ^@ NM_019105.6(TNXB):c.2018A>C (p.Tyr673Ser) http://identifiers.org/clinvar/388166 ^@ NM_000089.3(COL1A2):c.2642A>C (p.Glu881Ala) http://identifiers.org/clinvar/390655 ^@ NM_000739.2(CHRM2):c.1044G>A (p.Gly348=) http://identifiers.org/clinvar/382384 ^@ NM_014324.5(AMACR):c.837G>A (p.Thr279=) http://identifiers.org/clinvar/386477 ^@ NM_000445.4(PLEC):c.966G>A (p.Met322Ile) http://identifiers.org/clinvar/388866 ^@ NM_153033.4(KCTD7):c.-45G>A http://identifiers.org/clinvar/388566 ^@ NM_153033.4(KCTD7):c.132G>A (p.Leu44=) http://identifiers.org/clinvar/386027 ^@ NM_000050.4(ASS1):c.63C>T (p.Leu21=) http://identifiers.org/clinvar/379679 ^@ NM_032861.3(SERAC1):c.1155A>G (p.Gln385=) http://identifiers.org/clinvar/385727 ^@ NM_032634.3(PIGO):c.3141-15C>T http://identifiers.org/clinvar/388916 ^@ NM_032634.3(PIGO):c.2763C>T (p.Phe921=) http://identifiers.org/clinvar/390105 ^@ NM_004612.3(TGFBR1):c.618G>T (p.Val206=) http://identifiers.org/clinvar/386977 ^@ NM_020822.2(KCNT1):c.3669G>C (p.Ser1223=) http://identifiers.org/clinvar/133019 ^@ NM_000540.2(RYR1):c.11754T>A (p.Thr3918=) http://identifiers.org/clinvar/133069 ^@ NM_000540.2(RYR1):c.14458G>T (p.Gly4820Trp) http://identifiers.org/clinvar/133119 ^@ NM_000540.2(RYR1):c.270+27G>A http://identifiers.org/clinvar/133169 ^@ NM_000540.2(RYR1):c.6669C>T (p.Ile2223=) http://identifiers.org/clinvar/133219 ^@ NM_000540.2(RYR1):c.8189A>G (p.Asp2730Gly) http://identifiers.org/clinvar/133295 ^@ NM_032340.3(UQCC2):c.214-3C>G http://identifiers.org/clinvar/133361 ^@ NM_017617.4(NOTCH1):c.5167+162G>A http://identifiers.org/clinvar/133411 ^@ NM_003820.3(TNFRSF14):c.305-191C>T http://identifiers.org/clinvar/133461 ^@ NM_004304.4(ALK):c.1943C>T (p.Thr648Ile) http://identifiers.org/clinvar/133512 ^@ NM_000038.5(APC):c.5968A>T (p.Thr1990Ser) http://identifiers.org/clinvar/133562 ^@ NM_152641.3(ARID2):c.2764A>G (p.Thr922Ala) http://identifiers.org/clinvar/133612 ^@ NM_000051.3(ATM):c.3044A>G (p.Gln1015Arg) http://identifiers.org/clinvar/133662 ^@ NM_004656.3(BAP1):c.1325C>G (p.Pro442Arg) http://identifiers.org/clinvar/133712 ^@ NM_000057.3(BLM):c.1722_1724delAGCinsTAA (p.Leu574_Ala575delinsPheLys) http://identifiers.org/clinvar/133766 ^@ NM_001211.5(BUB1B):c.1464A>T (p.Lys488Asn) http://identifiers.org/clinvar/133816 ^@ NM_005188.3(CBL):c.560C>T (p.Ala187Val) http://identifiers.org/clinvar/134068 ^@ NM_001005862.2(ERBB2):c.1067C>A (p.Ala356Asp) http://identifiers.org/clinvar/134118 ^@ NM_000122.1(ERCC3):c.1960G>A (p.Glu654Lys) http://identifiers.org/clinvar/134168 ^@ NM_000123.3(ERCC5):c.3449A>G (p.Asp1150Gly) http://identifiers.org/clinvar/134218 ^@ NM_207122.1(EXT2):c.1178G>A (p.Arg393Gln) http://identifiers.org/clinvar/134268 ^@ NM_000135.2(FANCA):c.3524C>T (p.Pro1175Leu) http://identifiers.org/clinvar/135118 ^@ NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) http://identifiers.org/clinvar/135169 ^@ NM_004260.3(RECQL4):c.1237_1238delGCinsAG (p.Ala413Arg) http://identifiers.org/clinvar/135451 ^@ NM_000553.4(WRN):c.968C>T (p.Ser323Leu) http://identifiers.org/clinvar/135501 ^@ NM_000545.6(HNF1A):c.1309+187T>A http://identifiers.org/clinvar/135551 ^@ NM_002253.2(KDR):c.1987+28C>T http://identifiers.org/clinvar/135615 ^@ NM_002136.3(HNRNPA1):c.958T>C (p.Phe320Leu) http://identifiers.org/clinvar/135686 ^@ NM_000038.5(APC):c.1863T>C (p.Thr621=) http://identifiers.org/clinvar/135737 ^@ NM_000051.3(ATM):c.186-7C>T http://identifiers.org/clinvar/135846 ^@ NM_000249.3(MLH1):c.1268G>A (p.Arg423Lys) http://identifiers.org/clinvar/135896 ^@ NM_000264.3(PTCH1):c.3805-9C>T http://identifiers.org/clinvar/135946 ^@ NM_000535.6(PMS2):c.830C>A (p.Thr277Lys) http://identifiers.org/clinvar/135998 ^@ NM_001166110.1(PALLD):c.156G>A (p.Ser52=) http://identifiers.org/clinvar/136048 ^@ NM_002485.4(NBN):c.939G>A (p.Ala313=) http://identifiers.org/clinvar/136099 ^@ NM_020975.4(RET):c.1386G>A (p.Ser462=) http://identifiers.org/clinvar/136149 ^@ NM_032043.2(BRIP1):c.3275C>T (p.Pro1092Leu) http://identifiers.org/clinvar/136209 ^@ NM_017849.3(TMEM127):c.268G>A (p.Val90Met) http://identifiers.org/clinvar/136260 ^@ NM_000017.3(ACADS):c.990C>T (p.Arg330=) http://identifiers.org/clinvar/136311 ^@ NM_000026.3(ADSL):c.363G>A (p.Leu121=) http://identifiers.org/clinvar/136362 ^@ NM_000692.4(ALDH1B1):c.320G>T (p.Arg107Leu) http://identifiers.org/clinvar/184462 ^@ NM_001042492.2(NF1):c.8395G>A (p.Val2799Ile) http://identifiers.org/clinvar/186803 ^@ NM_002878.3(RAD51D):c.772G>A (p.Gly258Arg) http://identifiers.org/clinvar/185851 ^@ NM_002878.3(RAD51D):c.532A>G (p.Met178Val) http://identifiers.org/clinvar/184362 ^@ NM_007294.3(BRCA1):c.4752C>T (p.Ala1584=) http://identifiers.org/clinvar/186051 ^@ NM_007294.3(BRCA1):c.1713A>G (p.Ile571Met) http://identifiers.org/clinvar/184612 ^@ NM_007294.3(BRCA1):c.1635G>A (p.Val545=) http://identifiers.org/clinvar/184512 ^@ NM_007294.3(BRCA1):c.570C>T (p.Thr190=) http://identifiers.org/clinvar/184212 ^@ NM_032043.2(BRIP1):c.297C>T (p.Asp99=) http://identifiers.org/clinvar/185901 ^@ NM_000546.5(TP53):c.924G>A (p.Leu308=) http://identifiers.org/clinvar/186653 ^@ NM_000546.5(TP53):c.727A>C (p.Met243Leu) http://identifiers.org/clinvar/186451 ^@ NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) http://identifiers.org/clinvar/186301 ^@ NM_000546.5(TP53):c.408A>C (p.Gln136His) http://identifiers.org/clinvar/184112 ^@ NM_000546.5(TP53):c.63C>T (p.Asp21=) http://identifiers.org/clinvar/184012 ^@ NM_000455.4(STK11):c.897C>T (p.Ser299=) http://identifiers.org/clinvar/185701 ^@ NM_000455.4(STK11):c.1081A>G (p.Ile361Val) http://identifiers.org/clinvar/183961 ^@ NM_007194.3(CHEK2):c.1608A>G (p.Pro536=) http://identifiers.org/clinvar/183911 ^@ NM_007194.3(CHEK2):c.651A>G (p.Arg217=) http://identifiers.org/clinvar/188282 ^@ NM_002354.2(EPCAM):c.878G>A (p.Arg293Lys) http://identifiers.org/clinvar/188334 ^@ NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) http://identifiers.org/clinvar/188390 ^@ NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup http://identifiers.org/clinvar/188545 ^@ NM_000256.3(MYBPC3):c.1226+49T>C http://identifiers.org/clinvar/188645 ^@ NM_000257.3(MYH7):c.5560-149G>T http://identifiers.org/clinvar/188595 ^@ NM_000257.3(MYH7):c.437A>T (p.Lys146Met) http://identifiers.org/clinvar/188695 ^@ NM_001018005.1(TPM1):c.375-26G>A http://identifiers.org/clinvar/188445 ^@ NM_001943.4(DSG2):c.383C>T (p.Thr128Ile) http://identifiers.org/clinvar/188495 ^@ NM_004992.3(MECP2):c.583G>A (p.Gly195Ser) http://identifiers.org/clinvar/189047 ^@ NM_000030.2(AGXT):c.568G>A (p.Gly190Arg) http://identifiers.org/clinvar/188795 ^@ NM_000128.3(F11):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/188896 ^@ NM_138694.3(PKHD1):c.10444C>T (p.Arg3482Cys) http://identifiers.org/clinvar/188745 ^@ NM_000051.3(ATM):c.7927+5delG http://identifiers.org/clinvar/189147 ^@ NM_001164277.1(SLC37A4):c.652C>T (p.Gln218Ter) http://identifiers.org/clinvar/189097 ^@ NM_000352.4(ABCC8):c.291-2A>G http://identifiers.org/clinvar/188845 ^@ NM_000295.4(SERPINA1):c.1158dupC (p.Glu387Argfs) http://identifiers.org/clinvar/188996 ^@ NM_000152.4(GAA):c.343C>T (p.Gln115Ter) http://identifiers.org/clinvar/188946 ^@ NM_000159.3(GCDH):c.1060G>A (p.Gly354Ser) http://identifiers.org/clinvar/189197 ^@ NM_017890.4(VPS13B):c.9406-1G>C http://identifiers.org/clinvar/189265 ^@ NM_014795.3(ZEB2):c.1944delC (p.Ile649Serfs) http://identifiers.org/clinvar/189317 ^@ NM_005859.4(PURA):c.726_727delGT (p.Phe243Tyrfs) http://identifiers.org/clinvar/242613 ^@ NM_014783.5(ARHGAP11A):c.932G>T (p.Arg311Ile) http://identifiers.org/clinvar/189471 ^@ NM_000314.6(PTEN):c.-1095G>T http://identifiers.org/clinvar/189409 ^@ NM_000314.6(PTEN):c.493-1G>A http://identifiers.org/clinvar/189587 ^@ NM_003159.2(CDKL5):c.404-?_554+?del http://identifiers.org/clinvar/189637 ^@ NM_004992.3(MECP2):c.1039_1195del157insGT (p.Lys347Valfs) http://identifiers.org/clinvar/189537 ^@ NM_003159.2(CDKL5):c.404-53T>C http://identifiers.org/clinvar/226580 ^@ NM_001277115.1(DNAH11):c.12288G>A (p.Arg4096=) http://identifiers.org/clinvar/229312 ^@ NM_004817.3(TJP2):c.2864C>T (p.Pro955Leu) http://identifiers.org/clinvar/227471 ^@ NM_004985.4(KRAS):c.264A>G (p.Lys88=) http://identifiers.org/clinvar/229112 ^@ NM_173591.3(OTOGL):c.215G>A (p.Cys72Tyr) http://identifiers.org/clinvar/242406 ^@ NM_173591.3(OTOGL):c.6221T>C (p.Ile2074Thr) http://identifiers.org/clinvar/229062 ^@ NM_001042492.2(NF1):c.2410-12T>C http://identifiers.org/clinvar/228612 ^@ NM_023036.4(DNAI2):c.*13G>A http://identifiers.org/clinvar/229612 ^@ NM_173477.4(USH1G):c.925C>T (p.Arg309Cys) http://identifiers.org/clinvar/229362 ^@ NM_001039141.2(TRIOBP):c.5575C>G (p.His1859Asp) http://identifiers.org/clinvar/234306 ^@ NM_004895.4(NLRP3):c.2969G>C (p.Cys990Ser) http://identifiers.org/clinvar/234428 ^@ NM_000179.2(MSH6):c.1254T>G (p.Ser418=) http://identifiers.org/clinvar/234831 ^@ NM_000179.2(MSH6):c.3837C>G (p.Ser1279Arg) http://identifiers.org/clinvar/234680 ^@ NM_000249.3(MLH1):c.347delC (p.Thr116Lysfs) http://identifiers.org/clinvar/234580 ^@ NM_002485.4(NBN):c.666C>T (p.Phe222=) http://identifiers.org/clinvar/234780 ^@ NM_002485.4(NBN):c.153C>A (p.Asn51Lys) http://identifiers.org/clinvar/234630 ^@ NM_002485.4(NBN):c.6G>A (p.Trp2Ter) http://identifiers.org/clinvar/234529 ^@ NM_000314.6(PTEN):c.-946C>T http://identifiers.org/clinvar/234730 ^@ NM_000834.3(GRIN2B):c.471G>C (p.Met157Ile) http://identifiers.org/clinvar/234881 ^@ NM_000059.3(BRCA2):c.109T>G (p.Ser37Ala) http://identifiers.org/clinvar/234478 ^@ NM_000059.3(BRCA2):c.462A>T (p.Gln154His) http://identifiers.org/clinvar/234358 ^@ NM_000243.2(MEFV):c.547C>A (p.Pro183Thr) http://identifiers.org/clinvar/230464 ^@ NM_032043.2(BRIP1):c.2167G>A (p.Val723Ile) http://identifiers.org/clinvar/230264 ^@ NM_003000.2(SDHB):c.186A>G (p.Glu62=) http://identifiers.org/clinvar/231253 ^@ NM_001128425.1(MUTYH):c.1593T>C (p.Asn531=) http://identifiers.org/clinvar/233896 ^@ NM_001128425.1(MUTYH):c.1431G>A (p.Thr477=) http://identifiers.org/clinvar/230114 ^@ NM_000465.3(BARD1):c.1955A>G (p.Glu652Gly) http://identifiers.org/clinvar/232303 ^@ NM_000465.3(BARD1):c.1200T>C (p.Ser400=) http://identifiers.org/clinvar/232403 ^@ NM_000465.3(BARD1):c.617A>G (p.Gln206Arg) http://identifiers.org/clinvar/234046 ^@ NM_000465.3(BARD1):c.221G>T (p.Cys74Phe) http://identifiers.org/clinvar/230214 ^@ NM_000251.2(MSH2):c.-68-162G>T http://identifiers.org/clinvar/231153 ^@ NM_000251.2(MSH2):c.1121A>G (p.Gln374Arg) http://identifiers.org/clinvar/231853 ^@ NM_000251.2(MSH2):c.1133A>C (p.Glu378Ala) http://identifiers.org/clinvar/231103 ^@ NM_000179.2(MSH6):c.1127A>G (p.Glu376Gly) http://identifiers.org/clinvar/231353 ^@ NM_000179.2(MSH6):c.4062G>T (p.Leu1354=) http://identifiers.org/clinvar/229764 ^@ NM_000249.3(MLH1):c.2085G>A (p.Ser695=) http://identifiers.org/clinvar/264345 ^@ NM_000214.2(JAG1):c.814G>A (p.Val272Ile) http://identifiers.org/clinvar/264545 ^@ NM_002294.2(LAMP2):c.183T>C (p.Tyr61=) http://identifiers.org/clinvar/264650 ^@ NM_001204.6(BMPR2):c.16C>T (p.Gln6Ter) http://identifiers.org/clinvar/264710 ^@ NM_017583.5(TRIM44):c.463G>A (p.Gly155Arg) http://identifiers.org/clinvar/264760 ^@ NM_001242896.1(DEPDC5):c.3217A>C (p.Ser1073Arg) http://identifiers.org/clinvar/264915 ^@ NM_000059.3(BRCA2):c.425+285C>T http://identifiers.org/clinvar/264865 ^@ NM_000059.3(BRCA2):c.7007+2936del http://identifiers.org/clinvar/264965 ^@ NM_000059.3(BRCA2):c.9648+534del http://identifiers.org/clinvar/264815 ^@ NM_007294.3(BRCA1):c.5074+1618A>G http://identifiers.org/clinvar/265475 ^@ NM_002016.1(FLG):c.10225C>T (p.Arg3409Ter) http://identifiers.org/clinvar/265070 ^@ NM_000069.2(CACNA1S):c.3026C>T (p.Thr1009Met) http://identifiers.org/clinvar/265375 ^@ NM_000038.5(APC):c.1548+3_1548+4delAT http://identifiers.org/clinvar/265425 ^@ NM_000426.3(LAMA2):c.5374G>T (p.Glu1792Ter) http://identifiers.org/clinvar/265017 ^@ NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) http://identifiers.org/clinvar/265170 ^@ NM_000512.4(GALNS):c.1485C>G (p.Asn495Lys) http://identifiers.org/clinvar/265120 ^@ NM_018127.6(ELAC2):c.1282C>T (p.Arg428Cys) http://identifiers.org/clinvar/265525 ^@ NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) http://identifiers.org/clinvar/265325 ^@ NM_004006.2(DMD):c.8218-2A>G http://identifiers.org/clinvar/266836 ^@ NM_000059.3(BRCA2):c.48dupG (p.Thr17Aspfs) http://identifiers.org/clinvar/266636 ^@ NM_000059.3(BRCA2):c.1449_1451delAGTinsTTCC (p.Val484Serfs) http://identifiers.org/clinvar/266686 ^@ NM_000059.3(BRCA2):c.2209_2216delGCATGTCA (p.Ala737Profs) http://identifiers.org/clinvar/266736 ^@ NM_000059.3(BRCA2):c.3150_3153delCTTGinsATTTT (p.Leu1051Phefs) http://identifiers.org/clinvar/266786 ^@ NM_000059.3(BRCA2):c.3978_3979insTTGC (p.Ala1327Leufs) http://identifiers.org/clinvar/266886 ^@ NM_000059.3(BRCA2):c.5651_5652insA (p.Cys1885Leufs) http://identifiers.org/clinvar/266936 ^@ NM_000059.3(BRCA2):c.6267_6268delGC (p.His2090Terfs) http://identifiers.org/clinvar/266986 ^@ NM_000059.3(BRCA2):c.7124T>G (p.Leu2375Ter) http://identifiers.org/clinvar/267036 ^@ NM_000059.3(BRCA2):c.7795G>T (p.Glu2599Ter) http://identifiers.org/clinvar/267086 ^@ NM_000059.3(BRCA2):c.8438delG (p.Gly2813Glufs) http://identifiers.org/clinvar/267136 ^@ NM_000059.3(BRCA2):c.9063_9064dupAA (p.Arg3022Lysfs) http://identifiers.org/clinvar/266536 ^@ NM_007294.3(BRCA1):c.5221_5224delGTCA (p.Val1741Metfs) http://identifiers.org/clinvar/266486 ^@ NM_007294.3(BRCA1):c.4593dupT (p.Val1532Cysfs) http://identifiers.org/clinvar/266436 ^@ NM_007294.3(BRCA1):c.4066delC (p.Gln1356Lysfs) http://identifiers.org/clinvar/266586 ^@ NM_007294.3(BRCA1):c.861_862dupCA (p.Ser288Thrfs) http://identifiers.org/clinvar/267197 ^@ NC_000011.8:g.31108579_31649842del541264 http://identifiers.org/clinvar/267259 ^@ NM_005883.2(APC2):c.5199dupC (p.Lys1734Glnfs) http://identifiers.org/clinvar/267337 ^@ NC_000007.14:g.(?_105555022)_(105567316_?)del http://identifiers.org/clinvar/267405 ^@ c.7271T>G http://identifiers.org/clinvar/267693 ^@ NM_000059.3(BRCA2):c.8332-?_8487+?del http://identifiers.org/clinvar/267643 ^@ NM_000059.3(BRCA2):c.426-2A>T http://identifiers.org/clinvar/267543 ^@ NM_007294.3(BRCA1):c.442-?_670+?del http://identifiers.org/clinvar/267593 ^@ NM_007294.3(BRCA1):c.5278-2A>G http://identifiers.org/clinvar/267772 ^@ NM_006087.3(TUBB4A):c.730G>A (p.Gly244Ser) http://identifiers.org/clinvar/267822 ^@ 46;XY;t(1;3)(q32.1;q13.2)dn http://identifiers.org/clinvar/291481 ^@ NM_001854.3(COL11A1):c.*809C>T http://identifiers.org/clinvar/291531 ^@ NM_001854.3(COL11A1):c.1792-15_1792-10delATGATG http://identifiers.org/clinvar/291581 ^@ NM_015074.3(KIF1B):c.4545C>T (p.Ser1515=) http://identifiers.org/clinvar/291873 ^@ NM_013319.2(UBIAD1):c.*221_*223delAAG http://identifiers.org/clinvar/292423 ^@ NM_213653.3(HFE2):c.345C>T (p.Ile115=) http://identifiers.org/clinvar/292773 ^@ NM_001111.4(ADAR):c.1851C>A (p.Thr617=) http://identifiers.org/clinvar/292373 ^@ NM_014874.3(MFN2):c.891C>T (p.Ala297=) http://identifiers.org/clinvar/292523 ^@ NM_019032.5(ADAMTSL4):c.920G>A (p.Arg307Gln) http://identifiers.org/clinvar/292473 ^@ NM_005267.4(GJA8):c.1102G>C (p.Glu368Gln) http://identifiers.org/clinvar/292623 ^@ NM_000449.3(RFX5):c.-138-8C>A http://identifiers.org/clinvar/292573 ^@ NM_019032.5(ADAMTSL4):c.*333G>A http://identifiers.org/clinvar/292673 ^@ NM_152263.3(TPM3):c.*1964A>G http://identifiers.org/clinvar/292723 ^@ NM_001111.4(ADAR):c.*1406A>C http://identifiers.org/clinvar/336178 ^@ NM_133259.3(LRPPRC):c.70C>G (p.Leu24Val) http://identifiers.org/clinvar/335928 ^@ NM_000104.3(CYP1B1):c.*1173delC http://identifiers.org/clinvar/336028 ^@ NM_022436.2(ABCG5):c.*511C>A http://identifiers.org/clinvar/336535 ^@ NM_001135659.2(NRXN1):c.*435T>C http://identifiers.org/clinvar/344714 ^@ NM_003242.5(TGFBR2):c.*2248dupT http://identifiers.org/clinvar/344764 ^@ NM_015141.3(GPD1L):c.*1828T>C http://identifiers.org/clinvar/336278 ^@ NM_001430.4(EPAS1):c.2392A>G (p.Arg798Gly) http://identifiers.org/clinvar/336735 ^@ NM_032180.2(FAM161A):c.1803T>G (p.Asn601Lys) http://identifiers.org/clinvar/336378 ^@ NM_139279.5(MCFD2):c.*73A>G http://identifiers.org/clinvar/344964 ^@ NM_001106.3(ACVR2B):c.*2359_*2361delTTT http://identifiers.org/clinvar/336485 ^@ NM_000145.3(FSHR):c.786C>T (p.Val262=) http://identifiers.org/clinvar/345114 ^@ NM_198056.2(SCN5A):c.5286C>T (p.Ile1762=) http://identifiers.org/clinvar/345164 ^@ NM_018075.4(ANO10):c.*444C>T http://identifiers.org/clinvar/345214 ^@ NM_016006.4(ABHD5):c.12G>A (p.Glu4=) http://identifiers.org/clinvar/336685 ^@ NM_002618.3(PEX13):c.*952C>T http://identifiers.org/clinvar/336835 ^@ NM_002056.3(GFPT1):c.*2420C>T http://identifiers.org/clinvar/336885 ^@ NM_002056.3(GFPT1):c.-153G>A http://identifiers.org/clinvar/336935 ^@ NM_032601.3(MCEE):c.520G>C (p.Glu174Gln) http://identifiers.org/clinvar/337285 ^@ NM_000821.6(GGCX):c.-70G>A http://identifiers.org/clinvar/337185 ^@ NM_000821.6(GGCX):c.*3996T>C http://identifiers.org/clinvar/345064 ^@ NM_198056.2(SCN5A):c.*1943C>A http://identifiers.org/clinvar/337485 ^@ NM_017849.3(TMEM127):c.*1252C>G http://identifiers.org/clinvar/337585 ^@ NM_020184.3(CNNM4):c.1326T>G (p.Thr442=) http://identifiers.org/clinvar/337435 ^@ NM_144563.2(RPIA):c.738+18delG http://identifiers.org/clinvar/345364 ^@ NM_020208.3(SLC6A20):c.*1819T>G http://identifiers.org/clinvar/346953 ^@ NM_000097.5(CPOX):c.*1072C>T http://identifiers.org/clinvar/347303 ^@ NM_001148.4(ANK2):c.468G>A (p.Gln156=) http://identifiers.org/clinvar/347503 ^@ NM_152618.2(BBS12):c.1499T>C (p.Val500Ala) http://identifiers.org/clinvar/347553 ^@ NM_031296.2(RAB33B):c.-193G>T http://identifiers.org/clinvar/347603 ^@ NM_172250.2(MMAA):c.904A>T (p.Ile302Leu) http://identifiers.org/clinvar/346853 ^@ NM_033337.2(CAV3):c.*467T>C http://identifiers.org/clinvar/361958 ^@ NM_003235.4(TG):c.4267C>T (p.Arg1423Cys) http://identifiers.org/clinvar/362358 ^@ NM_177924.4(ASAH1):c.*695C>T http://identifiers.org/clinvar/362508 ^@ NM_005144.4(HR):c.1858C>G (p.Arg620Gly) http://identifiers.org/clinvar/362608 ^@ NM_006129.4(BMP1):c.*275G>A http://identifiers.org/clinvar/362808 ^@ NM_000553.4(WRN):c.2537A>G (p.Glu846Gly) http://identifiers.org/clinvar/362958 ^@ NM_000037.3(ANK1):c.*1899G>A http://identifiers.org/clinvar/359809 ^@ NM_001031710.2(KLHL7):c.*377G>A http://identifiers.org/clinvar/360059 ^@ NM_198428.2(BBS9):c.-12+7T>C http://identifiers.org/clinvar/360109 ^@ NM_133468.4(BMPER):c.1248G>A (p.Ser416=) http://identifiers.org/clinvar/360159 ^@ NM_000168.5(GLI3):c.*3238C>T http://identifiers.org/clinvar/360209 ^@ NM_000168.5(GLI3):c.*428C>T http://identifiers.org/clinvar/360359 ^@ NM_014855.2(AP5Z1):c.*690A>G http://identifiers.org/clinvar/364697 ^@ NM_015404.3(WHRN):c.690C>T (p.Thr230=) http://identifiers.org/clinvar/356081 ^@ NM_198586.2(NHLRC1):c.541A>G (p.Thr181Ala) http://identifiers.org/clinvar/356131 ^@ NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=) http://identifiers.org/clinvar/356181 ^@ NM_001080.3(ALDH5A1):c.*2414G>A http://identifiers.org/clinvar/355981 ^@ NM_004562.2(PRKN):c.*2480C>A http://identifiers.org/clinvar/360709 ^@ NM_000941.2(POR):c.1101T>A (p.Pro367=) http://identifiers.org/clinvar/365297 ^@ NM_007171.3(POMT1):c.*614G>A http://identifiers.org/clinvar/365447 ^@ NM_000368.4(TSC1):c.*2632A>G http://identifiers.org/clinvar/356820 ^@ NM_014780.4(CUL7):c.4683G>A (p.Glu1561=) http://identifiers.org/clinvar/356970 ^@ NM_006502.2(POLH):c.*2725G>A http://identifiers.org/clinvar/357020 ^@ NM_152732.4(RSPH9):c.819C>T (p.Pro273=) http://identifiers.org/clinvar/356920 ^@ NM_006502.2(POLH):c.*537C>T http://identifiers.org/clinvar/357120 ^@ NM_001024630.3(RUNX2):c.*1919C>T http://identifiers.org/clinvar/361808 ^@ NM_004519.3(KCNQ3):c.*4258T>C http://identifiers.org/clinvar/361858 ^@ NM_004519.3(KCNQ3):c.*759_*760delCA http://identifiers.org/clinvar/303439 ^@ NM_016952.4(CDON):c.*2373C>T http://identifiers.org/clinvar/311687 ^@ NM_004795.3(KL):c.911A>G (p.Asn304Ser) http://identifiers.org/clinvar/303639 ^@ NM_000890.3(KCNJ5):c.*228G>T http://identifiers.org/clinvar/303839 ^@ NM_001909.4(CTSD):c.659A>C (p.Gln220Pro) http://identifiers.org/clinvar/304039 ^@ NM_004211.4(SLC6A5):c.2297G>A (p.Arg766His) http://identifiers.org/clinvar/298511 ^@ NM_021830.4(TWNK):c.*455C>T http://identifiers.org/clinvar/298661 ^@ NM_017649.4(CNNM2):c.*794G>A http://identifiers.org/clinvar/312387 ^@ NM_000053.3(ATP7B):c.2544C>T (p.Gly848=) http://identifiers.org/clinvar/298761 ^@ NM_005445.3(SMC3):c.-74C>A http://identifiers.org/clinvar/304289 ^@ NM_000280.4(PAX6):c.*5108A>G http://identifiers.org/clinvar/367626 ^@ NM_000264.3(PTCH1):c.*2288dupA http://identifiers.org/clinvar/298811 ^@ NM_001134363.2(RBM20):c.*448C>T http://identifiers.org/clinvar/367676 ^@ NM_000264.3(PTCH1):c.1049G>A (p.Ser350Asn) http://identifiers.org/clinvar/298861 ^@ NM_007373.3(SHOC2):c.703+24_703+26delATT http://identifiers.org/clinvar/312987 ^@ NM_000359.2(TGM1):c.383A>G (p.Glu128Gly) http://identifiers.org/clinvar/299111 ^@ NM_001609.3(ACADSB):c.*1337A>G http://identifiers.org/clinvar/313237 ^@ NM_020937.3(FANCM):c.*756G>A http://identifiers.org/clinvar/298961 ^@ NM_004281.3(BAG3):c.1503C>T (p.Val501=) http://identifiers.org/clinvar/299411 ^@ NM_001081.3(CUBN):c.8095G>A (p.Val2699Met) http://identifiers.org/clinvar/299011 ^@ NM_000141.4(FGFR2):c.-46G>A http://identifiers.org/clinvar/305078 ^@ NM_001173990.2(TMEM216):c.289T>A (p.Phe97Ile) http://identifiers.org/clinvar/299211 ^@ NM_021980.4(OPTN):c.425A>C (p.Gln142Pro) http://identifiers.org/clinvar/314176 ^@ NM_005589.3(ALDH6A1):c.799G>A (p.Glu267Lys) http://identifiers.org/clinvar/314226 ^@ NM_182894.2(VSX2):c.*1511C>T http://identifiers.org/clinvar/314326 ^@ NM_000428.2(LTBP2):c.-222C>G http://identifiers.org/clinvar/314426 ^@ NM_017791.2(FLVCR2):c.*573C>T http://identifiers.org/clinvar/305480 ^@ NM_024649.4(BBS1):c.*562_*563dupTC http://identifiers.org/clinvar/314626 ^@ NM_004863.3(SPTLC2):c.*2338G>A http://identifiers.org/clinvar/299561 ^@ NM_201590.2(CACNB2):c.1099G>A (p.Val367Ile) http://identifiers.org/clinvar/314776 ^@ NM_018418.4(SPATA7):c.191-14C>A http://identifiers.org/clinvar/305880 ^@ NM_002180.2(IGHMBP2):c.*788C>T http://identifiers.org/clinvar/305930 ^@ NM_012309.4(SHANK2):c.7C>T (p.Arg3Cys) http://identifiers.org/clinvar/315076 ^@ NM_177438.2(DICER1):c.*1575A>G http://identifiers.org/clinvar/305980 ^@ NM_001145308.4(LRTOMT):c.-379T>C http://identifiers.org/clinvar/315126 ^@ NM_003384.2(VRK1):c.*211A>G http://identifiers.org/clinvar/300400 ^@ NM_022124.5(CDH23):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/300500 ^@ NM_002778.3(PSAP):c.*775G>A http://identifiers.org/clinvar/300700 ^@ NM_016065.3(MRPS16):c.*742G>T http://identifiers.org/clinvar/300800 ^@ NM_014000.2(VCL):c.*148A>G http://identifiers.org/clinvar/300850 ^@ NM_012330.3(KAT6B):c.-563G>A http://identifiers.org/clinvar/309593 ^@ NM_000423.2(KRT2):c.*42T>C http://identifiers.org/clinvar/309793 ^@ NM_002206.2(ITGA7):c.1171C>T (p.Leu391Phe) http://identifiers.org/clinvar/309893 ^@ NM_005379.3(MYO1A):c.*19A>G http://identifiers.org/clinvar/329488 ^@ NM_212550.4(BLOC1S3):c.*1086G>A http://identifiers.org/clinvar/309993 ^@ NM_000785.3(CYP27B1):c.*295G>A http://identifiers.org/clinvar/318168 ^@ NM_002474.2(MYH11):c.2010C>T (p.Asn670=) http://identifiers.org/clinvar/310043 ^@ NM_000552.4(VWF):c.7082-13G>C http://identifiers.org/clinvar/318218 ^@ NM_014714.3(IFT140):c.154T>C (p.Cys52Arg) http://identifiers.org/clinvar/310143 ^@ NM_001038.5(SCNN1A):c.1048C>G (p.Arg350Gly) http://identifiers.org/clinvar/310343 ^@ NM_000239.2(LYZ):c.*415G>A http://identifiers.org/clinvar/310493 ^@ NM_024685.3(BBS10):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/310748 ^@ NM_018979.3(WNK1):c.2336C>T (p.Ala779Val) http://identifiers.org/clinvar/312287 ^@ NM_000321.2(RB1):c.953C>G (p.Ser318Cys) http://identifiers.org/clinvar/312437 ^@ NM_006493.2(CLN5):c.*907_*910delCATT http://identifiers.org/clinvar/312537 ^@ NM_005708.4(GPC6):c.-23G>T http://identifiers.org/clinvar/312687 ^@ NM_022489.3(INF2):c.1280_1285delCACCCC (p.Pro427_Pro428del) http://identifiers.org/clinvar/338574 ^@ NM_001250.5(CD40):c.606C>T (p.Phe202=) http://identifiers.org/clinvar/312887 ^@ NM_000257.3(MYH7):c.*113G>A http://identifiers.org/clinvar/313037 ^@ NM_025152.2(NUBPL):c.*355T>C http://identifiers.org/clinvar/338825 ^@ NM_000782.4(CYP24A1):c.744G>A (p.Thr248=) http://identifiers.org/clinvar/339125 ^@ NM_207034.2(EDN3):c.543-7C>T http://identifiers.org/clinvar/311837 ^@ NM_001127217.2(SMAD9):c.*2546A>C http://identifiers.org/clinvar/313387 ^@ NM_000161.2(GCH1):c.*159_*162delAATA http://identifiers.org/clinvar/313437 ^@ NM_007374.2(SIX6):c.*210G>T http://identifiers.org/clinvar/313487 ^@ NM_182914.2(SYNE2):c.1318C>T (p.His440Tyr) http://identifiers.org/clinvar/339675 ^@ NM_178817.3(MRAP):c.-20G>C http://identifiers.org/clinvar/312187 ^@ NM_014252.3(SLC25A15):c.*353A>G http://identifiers.org/clinvar/312237 ^@ NM_003701.3(TNFSF11):c.924T>C (p.Phe308=) http://identifiers.org/clinvar/317666 ^@ NM_000833.4(GRIN2A):c.819A>G (p.Pro273=) http://identifiers.org/clinvar/312487 ^@ NM_052910.2(SLITRK1):c.*864_*868delATTTT http://identifiers.org/clinvar/328349 ^@ NM_000156.5(GAMT):c.328-10C>T http://identifiers.org/clinvar/327299 ^@ NM_001083962.1(TCF4):c.*451A>G http://identifiers.org/clinvar/327399 ^@ NM_000140.3(FECH):c.*1170_*1176delTAAATGGinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA http://identifiers.org/clinvar/327699 ^@ NM_133459.3(CCBE1):c.*146C>T http://identifiers.org/clinvar/329538 ^@ NM_202001.2(ERCC1):c.225G>A (p.Thr75=) http://identifiers.org/clinvar/327749 ^@ NM_003839.3(TNFRSF11A):c.*626_*627insCC http://identifiers.org/clinvar/327849 ^@ NM_005786.5(TSHZ1):c.2508G>A (p.Pro836=) http://identifiers.org/clinvar/327999 ^@ NM_001005360.2(DNM2):c.*47G>A http://identifiers.org/clinvar/328399 ^@ NM_000435.2(NOTCH3):c.2831A>G (p.Asn944Ser) http://identifiers.org/clinvar/328449 ^@ NM_173483.3(CYP4F22):c.*26G>A http://identifiers.org/clinvar/338274 ^@ NM_000687.3(AHCY):c.663T>C (p.Tyr221=) http://identifiers.org/clinvar/338324 ^@ NM_000557.4(GDF5):c.-30C>A http://identifiers.org/clinvar/338524 ^@ NM_000308.3(CTSA):c.159C>T (p.Ile53=) http://identifiers.org/clinvar/339075 ^@ NM_001001433.2(STX16):c.*1547C>G http://identifiers.org/clinvar/329938 ^@ NM_024729.3(MYH14):c.4015-13C>T http://identifiers.org/clinvar/329988 ^@ NM_144687.3(NLRP12):c.*324delG http://identifiers.org/clinvar/330038 ^@ NM_144687.3(NLRP12):c.654G>A (p.Ala218=) http://identifiers.org/clinvar/339225 ^@ NM_017671.4(FERMT1):c.747-12G>A http://identifiers.org/clinvar/339275 ^@ NM_001853.3(COL9A3):c.621C>T (p.Asp207=) http://identifiers.org/clinvar/339425 ^@ NM_025219.2(DNAJC5):c.*3269C>G http://identifiers.org/clinvar/340025 ^@ NM_020639.2(RIPK4):c.959G>A (p.Arg320Gln) http://identifiers.org/clinvar/338374 ^@ NM_005461.4(MAFB):c.*1803C>T http://identifiers.org/clinvar/338424 ^@ NM_000457.4(HNF4A):c.-15G>A http://identifiers.org/clinvar/338624 ^@ NM_030777.3(SLC2A10):c.*1340G>A http://identifiers.org/clinvar/338775 ^@ NM_020436.4(SALL4):c.1557C>T (p.Pro519=) http://identifiers.org/clinvar/338875 ^@ NM_002591.3(PCK1):c.453G>A (p.Ser151=) http://identifiers.org/clinvar/341015 ^@ NM_022081.5(HPS4):c.765C>T (p.Ala255=) http://identifiers.org/clinvar/338975 ^@ NM_004738.4(VAPB):c.*3493G>A http://identifiers.org/clinvar/341115 ^@ NM_000268.3(NF2):c.*1618T>C http://identifiers.org/clinvar/339175 ^@ NM_017671.4(FERMT1):c.*2068A>G http://identifiers.org/clinvar/339325 ^@ NM_172107.3(KCNQ2):c.*295C>T http://identifiers.org/clinvar/339375 ^@ NM_025219.2(DNAJC5):c.*853C>G http://identifiers.org/clinvar/339475 ^@ NM_012469.3(PRPF6):c.1492G>A (p.Gly498Ser) http://identifiers.org/clinvar/339525 ^@ NM_015192.3(PLCB1):c.*743T>C http://identifiers.org/clinvar/341765 ^@ NM_001429.3(EP300):c.-238T>C http://identifiers.org/clinvar/342015 ^@ NM_018006.4(TRMU):c.1018+9C>T http://identifiers.org/clinvar/382885 ^@ NM_000368.4(TSC1):c.3336C>T (p.Ser1112=) http://identifiers.org/clinvar/391455 ^@ NM_000739.2(CHRM2):c.-283+14C>G http://identifiers.org/clinvar/390555 ^@ NM_006415.3(SPTLC1):c.261-18A>G http://identifiers.org/clinvar/391155 ^@ NM_016203.3(PRKAG2):c.186+12T>C http://identifiers.org/clinvar/379179 ^@ NM_002047.3(GARS):c.1158C>T (p.Ser386=) http://identifiers.org/clinvar/391405 ^@ NM_007327.3(GRIN1):c.570+20G>A http://identifiers.org/clinvar/387866 ^@ NM_000051.3(ATM):c.5320-14C>T http://identifiers.org/clinvar/382484 ^@ NM_018109.3(MTPAP):c.858T>C (p.Ser286=) http://identifiers.org/clinvar/391755 ^@ NM_000399.4(EGR2):c.1066G>C (p.Glu356Gln) http://identifiers.org/clinvar/390605 ^@ NM_130849.3(SLC39A4):c.493C>T (p.Gln165Ter) http://identifiers.org/clinvar/391205 ^@ NM_023110.2(FGFR1):c.2278T>C (p.Leu760=) http://identifiers.org/clinvar/391505 ^@ NM_006231.3(POLE):c.3801A>G (p.Glu1267=) http://identifiers.org/clinvar/382635 ^@ NM_003640.4(IKBKAP):c.-17G>A http://identifiers.org/clinvar/392994 ^@ NM_001164277.1(SLC37A4):c.984+270C>T http://identifiers.org/clinvar/382835 ^@ NM_003482.3(KMT2D):c.10482G>A (p.Pro3494=) http://identifiers.org/clinvar/382033 ^@ NM_000256.3(MYBPC3):c.3627+14G>A http://identifiers.org/clinvar/388516 ^@ NM_016725.2(FOLR1):c.357+18C>A http://identifiers.org/clinvar/382534 ^@ NM_000432.3(MYL2):c.315G>C (p.Val105=) http://identifiers.org/clinvar/382183 ^@ NM_020297.3(ABCC9):c.231C>T (p.Phe77=) http://identifiers.org/clinvar/388716 ^@ NM_006231.3(POLE):c.5181G>A (p.Val1727=) http://identifiers.org/clinvar/389066 ^@ NM_001376.4(DYNC1H1):c.13113C>T (p.Asp4371=) http://identifiers.org/clinvar/385677 ^@ NM_002408.3(MGAT2):c.609T>C (p.Asn203=) http://identifiers.org/clinvar/379329 ^@ NM_006009.3(TUBA1A):c.17C>G (p.Ser6Cys) http://identifiers.org/clinvar/383035 ^@ NM_213649.1(SFXN4):c.415-9T>C http://identifiers.org/clinvar/387966 ^@ NM_001613.2(ACTA2):c.18C>T (p.Asp6=) http://identifiers.org/clinvar/386427 ^@ NM_024537.3(CARS2):c.394-13A>C http://identifiers.org/clinvar/391005 ^@ NM_000059.3(BRCA2):c.8283T>C (p.Ser2761=) http://identifiers.org/clinvar/387077 ^@ NM_014252.3(SLC25A15):c.-69-16T>A http://identifiers.org/clinvar/385377 ^@ NM_001885.2(CRYAB):c.202-18T>C http://identifiers.org/clinvar/378779 ^@ NM_000548.4(TSC2):c.1869C>G (p.Ala623=) http://identifiers.org/clinvar/386927 ^@ NM_002225.3(IVD):c.793+12C>T http://identifiers.org/clinvar/391805 ^@ NM_001009944.2(PKD1):c.5852G>A (p.Arg1951Gln) http://identifiers.org/clinvar/386277 ^@ NM_001482.2(GATM):c.1245A>C (p.Arg415=) http://identifiers.org/clinvar/392844 ^@ NM_000138.4(FBN1):c.1779T>C (p.Ser593=) http://identifiers.org/clinvar/391255 ^@ NM_002474.2(MYH11):c.2157C>A (p.Ile719=) http://identifiers.org/clinvar/391555 ^@ NM_001101362.2(KBTBD13):c.867C>A (p.Ala289=) http://identifiers.org/clinvar/47442 ^@ NM_133378.4(TTN):c.77273G>A (p.Arg25758Gln) http://identifiers.org/clinvar/47492 ^@ NM_133378.4(TTN):c.82062G>C (p.Lys27354Asn) http://identifiers.org/clinvar/47542 ^@ NM_133378.4(TTN):c.86925A>G (p.Ile28975Met) http://identifiers.org/clinvar/47592 ^@ NM_133378.4(TTN):c.90296A>G (p.Gln30099Arg) http://identifiers.org/clinvar/47642 ^@ NM_133378.4(TTN):c.94099A>G (p.Ile31367Val) http://identifiers.org/clinvar/47692 ^@ NM_133378.4(TTN):c.9781G>A (p.Val3261Met) http://identifiers.org/clinvar/47742 ^@ NM_133379.4(TTN):c.12067G>A (p.Gly4023Arg) http://identifiers.org/clinvar/47792 ^@ NM_133379.4(TTN):c.16001C>T (p.Pro5334Leu) http://identifiers.org/clinvar/47842 ^@ NM_133432.3(TTN):c.13150A>G (p.Ile4384Val) http://identifiers.org/clinvar/47892 ^@ NM_144573.3(NEXN):c.1457C>G (p.Ala486Gly) http://identifiers.org/clinvar/47942 ^@ NM_144612.6(LOXHD1):c.5085+6G>A http://identifiers.org/clinvar/47993 ^@ NM_005709.3(USH1C):c.1291C>T (p.Arg431Trp) http://identifiers.org/clinvar/48044 ^@ NM_005572.3(LMNA):c.1584G>A (p.Thr528=) http://identifiers.org/clinvar/48094 ^@ NM_005572.3(LMNA):c.954G>A (p.Ala318=) http://identifiers.org/clinvar/48144 ^@ NM_001195794.1(CLRN1):c.243T>C (p.Phe81=) http://identifiers.org/clinvar/48194 ^@ NM_194248.2(OTOF):c.2375G>A (p.Arg792Gln) http://identifiers.org/clinvar/48244 ^@ NM_194248.2(OTOF):c.4922G>A (p.Arg1641His) http://identifiers.org/clinvar/48294 ^@ NM_000335.4(SCN5A):c.2314G>A (p.Asp772Asn) http://identifiers.org/clinvar/48345 ^@ NM_206933.2(USH2A):c.1027T>G (p.Ser343Ala) http://identifiers.org/clinvar/48395 ^@ NM_206933.2(USH2A):c.12295-3T>A http://identifiers.org/clinvar/48445 ^@ NM_206933.2(USH2A):c.14664G>A (p.Thr4888=) http://identifiers.org/clinvar/48496 ^@ NM_206933.2(USH2A):c.313C>T (p.Leu105Phe) http://identifiers.org/clinvar/20 ^@ NM_001006657.1(WDR35):c.25-2A>G http://identifiers.org/clinvar/182 ^@ NM_000274.3(OAT):c.268C>G (p.Gln90Glu) http://identifiers.org/clinvar/191 ^@ NM_001017995.2(SH3PXD2B):c.76-2A>C http://identifiers.org/clinvar/209 ^@ NM_000285.3(PEPD):c.1153_1344del192 (p.Gly385_Gly448del) http://identifiers.org/clinvar/250 ^@ NM_000398.6(CYB5R3):c.875G>A (p.Gly292Asp) http://identifiers.org/clinvar/264 ^@ NM_178452.5(DNAAF1):c.811C>T (p.Arg271Ter) http://identifiers.org/clinvar/457 ^@ CPOX, IVS6DS, A-G, +3 http://identifiers.org/clinvar/466 ^@ NM_000035.3(ALDOB):c.865_867delCTT (p.Leu289del) http://identifiers.org/clinvar/516 ^@ LMBRD1, 1-BP DEL, 1056G http://identifiers.org/clinvar/657 ^@ NM_000312.3(PROC):c.1332G>C (p.Trp444Cys) http://identifiers.org/clinvar/707 ^@ NM_000512.4(GALNS):c.871G>A (p.Ala291Thr) http://identifiers.org/clinvar/730 ^@ ZNF469, 1-BP DEL, 5943A http://identifiers.org/clinvar/898 ^@ NM_000181.3(GUSB):c.442C>T (p.Pro148Ser) http://identifiers.org/clinvar/963 ^@ NM_000275.2(OCA2):c.1256G>A (p.Arg419Gln) http://identifiers.org/clinvar/968 ^@ NM_181714.3(LCA5):c.835C>T (p.Gln279Ter) http://identifiers.org/clinvar/977 ^@ NM_032322.3(RNF135):c.1015delG (p.Val339Serfs) http://identifiers.org/clinvar/1040 ^@ NM_138387.3(G6PC3):c.784G>C (p.Gly262Arg) http://identifiers.org/clinvar/1122 ^@ NM_017875.2(SLC25A38):c.790A>T (p.Lys264Ter) http://identifiers.org/clinvar/1131 ^@ NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) http://identifiers.org/clinvar/1181 ^@ CYP11B1, IVS8, A-G, +4 http://identifiers.org/clinvar/1226 ^@ NM_032985.4(SEC23B):c.970C>T (p.Arg324Ter) http://identifiers.org/clinvar/1865 ^@ PDCD10, 385C-T http://identifiers.org/clinvar/1955 ^@ NM_000022.3(ADA):c.301C>T (p.Arg101Trp) http://identifiers.org/clinvar/2044 ^@ NM_032146.5(ARL6):c.92C>G (p.Thr31Arg) http://identifiers.org/clinvar/2135 ^@ NM_130810.3(DNAAF4):c.-3G>A http://identifiers.org/clinvar/2182 ^@ ROBO3, 2-BP DEL, 1844CA http://identifiers.org/clinvar/2227 ^@ NM_000551.3(VHL):c.188T>C (p.Leu63Pro) http://identifiers.org/clinvar/2272 ^@ NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) http://identifiers.org/clinvar/2318 ^@ NM_014297.4(ETHE1):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/2363 ^@ NM_173653.3(SLC9A9):c.1267C>T (p.Arg423Ter) http://identifiers.org/clinvar/2409 ^@ NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs) http://identifiers.org/clinvar/2454 ^@ NM_000434.3(NEU1):c.946C>T (p.Pro316Ser) http://identifiers.org/clinvar/2548 ^@ NM_000243.2(MEFV):c.2230G>T (p.Ala744Ser) http://identifiers.org/clinvar/2594 ^@ NM_000126.3(ETFA):c.797C>T (p.Thr266Met) http://identifiers.org/clinvar/2685 ^@ CCM2, IVS3, G-A, +1 http://identifiers.org/clinvar/2731 ^@ NM_004183.3(BEST1):c.679T>A (p.Tyr227Asn) http://identifiers.org/clinvar/2777 ^@ NM_000158.3(GBE1):c.986A>C (p.Tyr329Ser) http://identifiers.org/clinvar/2821 ^@ NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) http://identifiers.org/clinvar/2867 ^@ MCFD2, 1-BP DEL, 103C http://identifiers.org/clinvar/2912 ^@ NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) http://identifiers.org/clinvar/2958 ^@ NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) http://identifiers.org/clinvar/3002 ^@ NM_000226.3(KRT9):c.469A>G (p.Met157Val) http://identifiers.org/clinvar/10260 ^@ F8, 1-BP INS, A http://identifiers.org/clinvar/10305 ^@ NM_000132.3(F8):c.6113A>G (p.Asn2038Ser) http://identifiers.org/clinvar/10350 ^@ F8, 1-BP DEL http://identifiers.org/clinvar/10448 ^@ GJB1, 3-BP DEL, 304GAG http://identifiers.org/clinvar/10496 ^@ NM_000202.7(IDS):c.509_510delCA (p.Thr170Metfs) http://identifiers.org/clinvar/10541 ^@ NM_000292.2(PHKA2):c.565A>G (p.Lys189Glu) http://identifiers.org/clinvar/10587 ^@ NM_000133.3(F9):c.880C>T (p.Arg294Ter) http://identifiers.org/clinvar/10631 ^@ F9, EX1DEL http://identifiers.org/clinvar/10678 ^@ NM_031407.6(HUWE1):c.12559C>T (p.Arg4187Cys) http://identifiers.org/clinvar/10722 ^@ NM_000169.2(GLA):c.982G>A (p.Gly328Arg) http://identifiers.org/clinvar/10768 ^@ NM_000169.2(GLA):c.639+919G>A http://identifiers.org/clinvar/10812 ^@ MID1, 2-BP DEL, 1545GA http://identifiers.org/clinvar/10858 ^@ NM_000276.3(OCRL):c.1499G>A (p.Arg500Gln) http://identifiers.org/clinvar/10903 ^@ NM_002351.4(SH2D1A):c.385T>A (p.Ter129Arg) http://identifiers.org/clinvar/10949 ^@ NM_000475.4(NR0B1):c.847C>T (p.Gln283Ter) http://identifiers.org/clinvar/10995 ^@ OTC, ARG245TRP http://identifiers.org/clinvar/11039 ^@ NM_001399.4(EDA):c.671G>C (p.Gly224Ala) http://identifiers.org/clinvar/11084 ^@ NM_001128834.2(PLP1):c.418C>T (p.His140Tyr) http://identifiers.org/clinvar/11129 ^@ WAS, IVS6DS, G-A, +5 http://identifiers.org/clinvar/11175 ^@ EMD, IVSAS, A-G, -3, 214-BP INS http://identifiers.org/clinvar/11265 ^@ DMD, IVS47, G-A, +1, EX48DEL http://identifiers.org/clinvar/11356 ^@ NM_000061.2(BTK):c.338T>A (p.Val113Asp) http://identifiers.org/clinvar/11400 ^@ NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter) http://identifiers.org/clinvar/11412 ^@ FOXP3, IVS9DS, A-G, +4 http://identifiers.org/clinvar/11462 ^@ IKBKG, IVS6DS, G-A, +5 http://identifiers.org/clinvar/11514 ^@ NM_001011658.3(TRAPPC2):c.391C>T (p.Gln131Ter) http://identifiers.org/clinvar/11564 ^@ NM_022977.2(ACSL4):c.1708C>A (p.Arg570Ser) http://identifiers.org/clinvar/11614 ^@ NM_005183.3(CACNA1F):c.1106G>A (p.Gly369Asp) http://identifiers.org/clinvar/11664 ^@ RPS6KA3, IVS12, A-G, -2 http://identifiers.org/clinvar/11715 ^@ NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) http://identifiers.org/clinvar/11766 ^@ NM_001110556.1(FLNA):c.607G>T (p.Asp203Tyr) http://identifiers.org/clinvar/11817 ^@ NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) http://identifiers.org/clinvar/11867 ^@ NM_000137.2(FAH):c.1090G>T (p.Glu364Ter) http://identifiers.org/clinvar/11917 ^@ NM_000203.4(IDUA):c.1861C>T (p.Arg621Ter) http://identifiers.org/clinvar/11967 ^@ DLD, 1-BP INS, 105A http://identifiers.org/clinvar/12019 ^@ PCCB, IVS6, A-G, +462 http://identifiers.org/clinvar/12069 ^@ F7, CYS178TYR http://identifiers.org/clinvar/12530 ^@ NM_000660.6(TGFB1):c.667T>G (p.Cys223Gly) http://identifiers.org/clinvar/12580 ^@ NM_033360.3(KRAS):c.38G>A (p.Gly13Asp) http://identifiers.org/clinvar/13536 ^@ CD36, T1264G http://identifiers.org/clinvar/37493 ^@ NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter) http://identifiers.org/clinvar/37553 ^@ NM_007294.3(BRCA1):c.3858_3861delTGAG (p.Ser1286Argfs) http://identifiers.org/clinvar/37604 ^@ NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) http://identifiers.org/clinvar/37659 ^@ NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) http://identifiers.org/clinvar/37714 ^@ NM_000059.3(BRCA2):c.-15A>C http://identifiers.org/clinvar/37765 ^@ NM_000059.3(BRCA2):c.1850C>A (p.Ser617Ter) http://identifiers.org/clinvar/37818 ^@ NM_000059.3(BRCA2):c.3073A>T (p.Lys1025Ter) http://identifiers.org/clinvar/37870 ^@ NM_000059.3(BRCA2):c.3978_3979ins4 http://identifiers.org/clinvar/37923 ^@ NM_000059.3(BRCA2):c.476-2A>G http://identifiers.org/clinvar/37977 ^@ NM_000059.3(BRCA2):c.5595_5596delAT (p.Phe1866Tyrfs) http://identifiers.org/clinvar/38028 ^@ NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) http://identifiers.org/clinvar/38082 ^@ NM_000059.3(BRCA2):c.7069_7070delCT (p.Leu2357Valfs) http://identifiers.org/clinvar/38132 ^@ NM_000059.3(BRCA2):c.7977-1G>C http://identifiers.org/clinvar/38182 ^@ NM_000059.3(BRCA2):c.8754+5G>A http://identifiers.org/clinvar/38232 ^@ NM_000059.3(BRCA2):c.9353T>C (p.Met3118Thr) http://identifiers.org/clinvar/38289 ^@ NM_000060.4(BTD):c.326T>G (p.Val109Gly) http://identifiers.org/clinvar/38349 ^@ NM_002437.4(MPV17):c.22dupC (p.Gln8Profs) http://identifiers.org/clinvar/38406 ^@ NM_018713.2(SLC30A10):c.1046T>C (p.Leu349Pro) http://identifiers.org/clinvar/38493 ^@ NM_000492.3(CFTR):c.2052delA (p.Lys684Asnfs) http://identifiers.org/clinvar/38728 ^@ NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter) http://identifiers.org/clinvar/38784 ^@ NM_000495.4(COL4A5):c.4298G>T (p.Gly1433Val) http://identifiers.org/clinvar/38908 ^@ NM_001039958.1(MESP2):c.271A>G (p.Lys91Glu) http://identifiers.org/clinvar/38958 ^@ NM_001363.4(DKC1):c.961C>G (p.Leu321Val) http://identifiers.org/clinvar/39010 ^@ NM_016938.4(EFEMP2):c.1226G>A (p.Arg409Gln) http://identifiers.org/clinvar/39060 ^@ NM_024312.4(GNPTAB):c.2777A>C (p.Gln926Pro) http://identifiers.org/clinvar/39116 ^@ NM_198253.2(TERT):c.2628C>G (p.His876Gln) http://identifiers.org/clinvar/39167 ^@ NM_198578.3(LRRK2):c.356T>C (p.Leu119Pro) http://identifiers.org/clinvar/242676 ^@ NM_003977.3(AIP):c.-125-95G>A http://identifiers.org/clinvar/51416 ^@ NM_000059.3(BRCA2):c.317-54C>G http://identifiers.org/clinvar/51468 ^@ NM_000059.3(BRCA2):c.3452dupT (p.Thr1154Aspfs) http://identifiers.org/clinvar/51519 ^@ NM_000059.3(BRCA2):c.3767A>C (p.His1256Pro) http://identifiers.org/clinvar/51570 ^@ NM_000059.3(BRCA2):c.3939delC (p.Tyr1313Terfs) http://identifiers.org/clinvar/51881 ^@ NM_000059.3(BRCA2):c.5569_5573delGAAAC (p.Glu1857Asnfs) http://identifiers.org/clinvar/51933 ^@ NM_000059.3(BRCA2):c.5773C>T (p.Gln1925Ter) http://identifiers.org/clinvar/51984 ^@ NM_000059.3(BRCA2):c.5C>T (p.Pro2Leu) http://identifiers.org/clinvar/52035 ^@ NM_000059.3(BRCA2):c.6216delC (p.Leu2073Tyrfs) http://identifiers.org/clinvar/52088 ^@ NM_000059.3(BRCA2):c.6413T>A (p.Val2138Asp) http://identifiers.org/clinvar/52140 ^@ NM_000059.3(BRCA2):c.6634_6637delTGTT (p.Cys2212Leufs) http://identifiers.org/clinvar/52191 ^@ NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) http://identifiers.org/clinvar/52242 ^@ NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) http://identifiers.org/clinvar/52293 ^@ NM_000059.3(BRCA2):c.7226delC (p.Pro2409Leufs) http://identifiers.org/clinvar/52343 ^@ NM_000059.3(BRCA2):c.748delG (p.Val250Terfs) http://identifiers.org/clinvar/52394 ^@ NM_000059.3(BRCA2):c.7721G>A (p.Trp2574Ter) http://identifiers.org/clinvar/52444 ^@ NM_000059.3(BRCA2):c.7941A>C (p.Leu2647=) http://identifiers.org/clinvar/52494 ^@ NM_000059.3(BRCA2):c.8067delT (p.Cys2689Trpfs) http://identifiers.org/clinvar/52544 ^@ NM_000059.3(BRCA2):c.8317_8330delTCTCTTATGTTAAA (p.Ser2773Aspfs) http://identifiers.org/clinvar/52595 ^@ NM_000059.3(BRCA2):c.8462T>C (p.Ile2821Thr) http://identifiers.org/clinvar/52646 ^@ NM_000059.3(BRCA2):c.8636dupA (p.Asn2879Lysfs) http://identifiers.org/clinvar/52697 ^@ NM_000059.3(BRCA2):c.8905G>A (p.Val2969Met) http://identifiers.org/clinvar/52748 ^@ NM_000059.3(BRCA2):c.9099_9100delTC (p.Gln3034Valfs) http://identifiers.org/clinvar/52799 ^@ NM_000059.3(BRCA2):c.9275A>C (p.Tyr3092Ser) http://identifiers.org/clinvar/52850 ^@ NM_000059.3(BRCA2):c.9498dupT (p.Glu3167Terfs) http://identifiers.org/clinvar/52900 ^@ NM_000059.3(BRCA2):c.97G>T (p.Glu33Ter) http://identifiers.org/clinvar/52950 ^@ NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) http://identifiers.org/clinvar/53000 ^@ NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) http://identifiers.org/clinvar/53050 ^@ NM_000218.2(KCNQ1):c.488delT (p.Leu163Argfs) http://identifiers.org/clinvar/53100 ^@ NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) http://identifiers.org/clinvar/53151 ^@ NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) http://identifiers.org/clinvar/53204 ^@ NM_000492.3(CFTR):c.115C>T (p.Gln39Ter) http://identifiers.org/clinvar/53256 ^@ NM_000492.3(CFTR):c.1445dupT (p.Lys483Terfs) http://identifiers.org/clinvar/53307 ^@ NM_000492.3(CFTR):c.164+2T>G http://identifiers.org/clinvar/53960 ^@ NM_000492.3(CFTR):c.474dupT (p.Leu159Phefs) http://identifiers.org/clinvar/54010 ^@ NM_000492.3(CFTR):c.579+3A>G http://identifiers.org/clinvar/54060 ^@ NM_000492.3(CFTR):c.79G>C (p.Gly27Arg) http://identifiers.org/clinvar/54112 ^@ NM_007294.3(BRCA1):c.1064A>G (p.Lys355Arg) http://identifiers.org/clinvar/54162 ^@ NM_007294.3(BRCA1):c.1204delG (p.Glu402Serfs) http://identifiers.org/clinvar/54212 ^@ NM_007294.3(BRCA1):c.134+3A>C http://identifiers.org/clinvar/54262 ^@ NM_007294.3(BRCA1):c.1465G>T (p.Glu489Ter) http://identifiers.org/clinvar/54313 ^@ NM_007294.3(BRCA1):c.1630C>T (p.Gln544Ter) http://identifiers.org/clinvar/54364 ^@ NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) http://identifiers.org/clinvar/54414 ^@ NM_007294.3(BRCA1):c.195delG (p.Asn66Metfs) http://identifiers.org/clinvar/54464 ^@ NM_007294.3(BRCA1):c.212+1G>C http://identifiers.org/clinvar/54514 ^@ NM_007294.3(BRCA1):c.224_227delAAAG (p.Glu75Valfs) http://identifiers.org/clinvar/54564 ^@ NM_007294.3(BRCA1):c.2419G>T (p.Ala807Ser) http://identifiers.org/clinvar/54614 ^@ NM_007294.3(BRCA1):c.259T>G (p.Leu87Val) http://identifiers.org/clinvar/54664 ^@ NM_007294.3(BRCA1):c.2733A>G (p.Gly911=) http://identifiers.org/clinvar/54714 ^@ NM_007294.3(BRCA1):c.2911C>A (p.His971Asn) http://identifiers.org/clinvar/54764 ^@ NM_007294.3(BRCA1):c.3049G>T (p.Glu1017Ter) http://identifiers.org/clinvar/54814 ^@ NM_007294.3(BRCA1):c.3263T>A (p.Val1088Asp) http://identifiers.org/clinvar/54864 ^@ NM_007294.3(BRCA1):c.3390delA (p.Asp1131Ilefs) http://identifiers.org/clinvar/54914 ^@ NM_007294.3(BRCA1):c.3549_3550delAG (p.Gly1184Argfs) http://identifiers.org/clinvar/54966 ^@ NM_007294.3(BRCA1):c.3704_3707delACAA (p.Asn1235Ilefs) http://identifiers.org/clinvar/55017 ^@ NM_007294.3(BRCA1):c.3820dupG (p.Val1274Glyfs) http://identifiers.org/clinvar/55067 ^@ NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys) http://identifiers.org/clinvar/55118 ^@ NM_007294.3(BRCA1):c.4165_4166dupAG (p.Ser1389Argfs) http://identifiers.org/clinvar/55169 ^@ NM_007294.3(BRCA1):c.4328G>A (p.Arg1443Gln) http://identifiers.org/clinvar/55220 ^@ NM_007294.3(BRCA1):c.4516delG (p.Asp1506Ilefs) http://identifiers.org/clinvar/55270 ^@ NM_007294.3(BRCA1):c.4724C>A (p.Pro1575His) http://identifiers.org/clinvar/57060 ^@ GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1 http://identifiers.org/clinvar/57117 ^@ GRCh38/hg38 15q11.2(chr15:24847127-24863718)x1 http://identifiers.org/clinvar/57168 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 http://identifiers.org/clinvar/57220 ^@ GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1 http://identifiers.org/clinvar/57273 ^@ GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 http://identifiers.org/clinvar/57325 ^@ GRCh38/hg38 5q14.3(chr5:85876480-88958682)x1 http://identifiers.org/clinvar/57379 ^@ GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 http://identifiers.org/clinvar/125985 ^@ NM_000059.3(BRCA2):c.2526dupA (p.Ala843Serfs) http://identifiers.org/clinvar/126050 ^@ U43746.1:n.489_490delCT http://identifiers.org/clinvar/126124 ^@ NM_000059.3(BRCA2):c.489_490insG (p.Leu164Valfs) http://identifiers.org/clinvar/126181 ^@ NM_000059.3(BRCA2):c.8525G>T (p.Arg2842Leu) http://identifiers.org/clinvar/126244 ^@ NM_001080522.2(CC2D2A):c.4384T>C (p.Trp1462Arg) http://identifiers.org/clinvar/126294 ^@ NM_024809.4(TCTN2):c.891+7G>A http://identifiers.org/clinvar/126345 ^@ NM_003070.4(SMARCA2):c.1827A>G (p.Pro609=) http://identifiers.org/clinvar/126401 ^@ NM_006397.2(RNASEH2A):c.872G>A (p.Arg291His) http://identifiers.org/clinvar/127196 ^@ NM_018249.5(CDK5RAP2):c.524_528delAGGCA (p.Gln175Argfs) http://identifiers.org/clinvar/127282 ^@ NM_000038.5(APC):c.2942C>G (p.Pro981Arg) http://identifiers.org/clinvar/127332 ^@ NM_000051.3(ATM):c.1229T>C (p.Val410Ala) http://identifiers.org/clinvar/127382 ^@ NM_000051.3(ATM):c.4148C>T (p.Ser1383Leu) http://identifiers.org/clinvar/127432 ^@ NM_000051.3(ATM):c.6976-10_6989delTCTTATACAGAACAATCCCAGCCT http://identifiers.org/clinvar/127483 ^@ NM_000057.3(BLM):c.2155C>T (p.Leu719Phe) http://identifiers.org/clinvar/127533 ^@ NM_000136.2(FANCC):c.1489T>C (p.Trp497Arg) http://identifiers.org/clinvar/127583 ^@ NM_000179.2(MSH6):c.3235A>C (p.Ile1079Leu) http://identifiers.org/clinvar/127693 ^@ NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) http://identifiers.org/clinvar/127743 ^@ NM_000465.3(BARD1):c.668A>G (p.Glu223Gly) http://identifiers.org/clinvar/127794 ^@ NM_000535.6(PMS2):c.682G>A (p.Gly228Ser) http://identifiers.org/clinvar/161599 ^@ NM_002742.2(PRKD1):c.1993G>A (p.Asp665Asn) http://identifiers.org/clinvar/161649 ^@ NM_006639.3(CYSLTR1):c.68delA (p.Asn23Ilefs) http://identifiers.org/clinvar/162208 ^@ NM_001305563.1(TXNL4A):c.-60-10914_-60-10880del http://identifiers.org/clinvar/162412 ^@ NM_170707.3(LMNA):c.1968G>A (p.Gln656=) http://identifiers.org/clinvar/162493 ^@ NR_002196.1(H19):n.-7080_-1781del http://identifiers.org/clinvar/162567 ^@ NM_001079802.1(FKTN):c.439C>A (p.Leu147Ile) http://identifiers.org/clinvar/162669 ^@ NM_015910.5(WDPCP):c.160G>A (p.Asp54Asn) http://identifiers.org/clinvar/163753 ^@ NM_004700.3(KCNQ4):c.1267A>C (p.Ser423Arg) http://identifiers.org/clinvar/162819 ^@ NM_001232.3(CASQ2):c.234+3A>G http://identifiers.org/clinvar/163871 ^@ NM_005572.3(LMNA):c.1158-3C>T http://identifiers.org/clinvar/242624 ^@ NM_133378.4(TTN):c.98315delG (p.Gly32772Valfs) http://identifiers.org/clinvar/166511 ^@ NM_206933.2(USH2A):c.3395G>A (p.Gly1132Asp) http://identifiers.org/clinvar/166005 ^@ NM_133378.4(TTN):c.43010G>A (p.Arg14337His) http://identifiers.org/clinvar/166149 ^@ NM_133378.4(TTN):c.22468G>A (p.Ala7490Thr) http://identifiers.org/clinvar/166261 ^@ NM_001256850.1(TTN):c.10360+4938C>T http://identifiers.org/clinvar/166311 ^@ NM_133378.4(TTN):c.6913G>A (p.Glu2305Lys) http://identifiers.org/clinvar/166599 ^@ NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) http://identifiers.org/clinvar/163129 ^@ NM_001277115.1(DNAH11):c.13263G>C (p.Pro4421=) http://identifiers.org/clinvar/163284 ^@ NM_004415.3(DSP):c.6367C>T (p.Arg2123Cys) http://identifiers.org/clinvar/163079 ^@ NM_005219.4(DIAPH1):c.128G>A (p.Arg43Gln) http://identifiers.org/clinvar/163587 ^@ NM_032119.3(ADGRV1):c.9255C>G (p.Phe3085Leu) http://identifiers.org/clinvar/198415 ^@ NM_000328.2(RPGR):c.777G>A (p.Thr259=) http://identifiers.org/clinvar/198465 ^@ NM_001159702.2(FHL1):c.889-3delC http://identifiers.org/clinvar/198519 ^@ NM_004698.2(PRPF3):c.957T>C (p.Pro319=) http://identifiers.org/clinvar/198570 ^@ NM_017653.3(DYM):c.500T>A (p.Ile167Asn) http://identifiers.org/clinvar/198622 ^@ NM_173660.4(DOK7):c.1305C>T (p.Gly435=) http://identifiers.org/clinvar/198673 ^@ NM_033071.3(SYNE1):c.13359C>T (p.Val4453=) http://identifiers.org/clinvar/198726 ^@ NM_000404.3(GLB1):c.809A>G (p.Tyr270Cys) http://identifiers.org/clinvar/198780 ^@ NM_001271043.2(NFIX):c.1164G>A (p.Ser388=) http://identifiers.org/clinvar/198833 ^@ NM_005881.3(BCKDK):c.692T>C (p.Ile231Thr) http://identifiers.org/clinvar/198887 ^@ NM_017890.4(VPS13B):c.1041A>G (p.Ser347=) http://identifiers.org/clinvar/198940 ^@ NM_207361.5(FREM2):c.6177A>G (p.Thr2059=) http://identifiers.org/clinvar/198991 ^@ NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) http://identifiers.org/clinvar/199042 ^@ NM_000875.4(IGF1R):c.1914C>T (p.Asn638=) http://identifiers.org/clinvar/199095 ^@ NM_004463.2(FGD1):c.1647G>A (p.Glu549=) http://identifiers.org/clinvar/199147 ^@ NM_018328.4(MBD5):c.796A>G (p.Ile266Val) http://identifiers.org/clinvar/199198 ^@ NM_198525.2(KIF7):c.1958C>T (p.Ala653Val) http://identifiers.org/clinvar/199253 ^@ NM_001267550.2(TTN):c.29293G>A (p.Asp9765Asn) http://identifiers.org/clinvar/199702 ^@ NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) http://identifiers.org/clinvar/199866 ^@ NM_004415.3(DSP):c.2182G>C (p.Asp728His) http://identifiers.org/clinvar/199923 ^@ NM_004415.3(DSP):c.3735_3741dupAAATCGA (p.Asp1248Lysfs) http://identifiers.org/clinvar/199756 ^@ NM_024422.4(DSC2):c.1510A>G (p.Ser504Gly) http://identifiers.org/clinvar/199812 ^@ NM_001943.4(DSG2):c.1843A>G (p.Ile615Val) http://identifiers.org/clinvar/202080 ^@ NM_001134363.2(RBM20):c.532C>T (p.Arg178Ter) http://identifiers.org/clinvar/201909 ^@ NM_006393.2(NEBL):c.2101C>A (p.Pro701Thr) http://identifiers.org/clinvar/202021 ^@ NM_004572.3(PKP2):c.1803delC (p.Asp601Glufs) http://identifiers.org/clinvar/201962 ^@ NM_004572.3(PKP2):c.928G>A (p.Val310Met) http://identifiers.org/clinvar/202137 ^@ NM_003276.2(TMPO):c.1198A>G (p.Met400Val) http://identifiers.org/clinvar/202192 ^@ NM_006493.2(CLN5):c.518delG (p.Ser173Ilefs) http://identifiers.org/clinvar/203086 ^@ NM_001256850.1(TTN):c.99873T>G (p.Ser33291Arg) http://identifiers.org/clinvar/203036 ^@ NM_001256850.1(TTN):c.93069C>A (p.His31023Gln) http://identifiers.org/clinvar/202986 ^@ NM_001256850.1(TTN):c.86885A>G (p.Asn28962Ser) http://identifiers.org/clinvar/202936 ^@ NM_001256850.1(TTN):c.81980A>G (p.His27327Arg) http://identifiers.org/clinvar/202421 ^@ NM_001256850.1(TTN):c.81717C>G (p.Tyr27239Ter) http://identifiers.org/clinvar/202476 ^@ NM_001256850.1(TTN):c.75661delA (p.Ser25221Alafs) http://identifiers.org/clinvar/202886 ^@ NM_001256850.1(TTN):c.73219A>C (p.Thr24407Pro) http://identifiers.org/clinvar/202836 ^@ NM_001256850.1(TTN):c.67058C>T (p.Ala22353Val) http://identifiers.org/clinvar/231514 ^@ NM_000038.5(APC):c.4902G>A (p.Pro1634=) http://identifiers.org/clinvar/231814 ^@ NM_000038.5(APC):c.5424C>T (p.Asn1808=) http://identifiers.org/clinvar/233806 ^@ NM_000038.5(APC):c.6349C>G (p.Gln2117Glu) http://identifiers.org/clinvar/231614 ^@ NM_005732.3(RAD50):c.1219G>A (p.Glu407Lys) http://identifiers.org/clinvar/230564 ^@ NM_004168.3(SDHA):c.310_311dupCA (p.Gln104Hisfs) http://identifiers.org/clinvar/231764 ^@ NM_000535.6(PMS2):c.1729A>C (p.Lys577Gln) http://identifiers.org/clinvar/231664 ^@ NM_000535.6(PMS2):c.1665G>A (p.Gln555=) http://identifiers.org/clinvar/231364 ^@ NM_002485.4(NBN):c.2034T>C (p.Asp678=) http://identifiers.org/clinvar/231414 ^@ NM_002485.4(NBN):c.394A>G (p.Ile132Val) http://identifiers.org/clinvar/231264 ^@ NM_002485.4(NBN):c.201A>C (p.Thr67=) http://identifiers.org/clinvar/233304 ^@ NM_000314.6(PTEN):c.442G>A (p.Ala148Thr) http://identifiers.org/clinvar/230914 ^@ NM_000051.3(ATM):c.3502T>C (p.Cys1168Arg) http://identifiers.org/clinvar/230964 ^@ NM_000051.3(ATM):c.4289A>G (p.Asn1430Ser) http://identifiers.org/clinvar/231314 ^@ NM_000051.3(ATM):c.7175G>A (p.Arg2392Gln) http://identifiers.org/clinvar/231464 ^@ NM_000051.3(ATM):c.8737G>C (p.Asp2913His) http://identifiers.org/clinvar/233354 ^@ NM_005591.3(MRE11):c.2094G>C (p.Met698Ile) http://identifiers.org/clinvar/233604 ^@ NM_005591.3(MRE11):c.227T>G (p.Leu76Arg) http://identifiers.org/clinvar/230864 ^@ NM_000059.3(BRCA2):c.1274A>G (p.Glu425Gly) http://identifiers.org/clinvar/233857 ^@ NM_000059.3(BRCA2):c.5027G>A (p.Ser1676Asn) http://identifiers.org/clinvar/232553 ^@ NM_000059.3(BRCA2):c.5888G>A (p.Gly1963Glu) http://identifiers.org/clinvar/230814 ^@ NM_000059.3(BRCA2):c.6990dupT (p.Thr2331Tyrfs) http://identifiers.org/clinvar/233454 ^@ NM_000548.4(TSC2):c.2838-5G>A http://identifiers.org/clinvar/230664 ^@ NM_024675.3(PALB2):c.3473_3476dupATTG (p.Trp1159Terfs) http://identifiers.org/clinvar/233554 ^@ NM_024675.3(PALB2):c.2811A>C (p.Gly937=) http://identifiers.org/clinvar/232654 ^@ NM_024675.3(PALB2):c.2147A>G (p.Asn716Ser) http://identifiers.org/clinvar/233104 ^@ NM_024675.3(PALB2):c.160_162delGAA (p.Glu54del) http://identifiers.org/clinvar/232704 ^@ NM_004360.4(CDH1):c.660G>A (p.Leu220=) http://identifiers.org/clinvar/231164 ^@ NM_004360.4(CDH1):c.786C>T (p.Phe262=) http://identifiers.org/clinvar/233204 ^@ NM_004360.4(CDH1):c.1097C>G (p.Thr366Ser) http://identifiers.org/clinvar/231564 ^@ NM_004360.4(CDH1):c.1516A>G (p.Thr506Ala) http://identifiers.org/clinvar/230614 ^@ NM_001042492.2(NF1):c.2023G>A (p.Gly675Arg) http://identifiers.org/clinvar/233054 ^@ NM_001042492.2(NF1):c.5108G>A (p.Ser1703Asn) http://identifiers.org/clinvar/233907 ^@ NM_001042492.2(NF1):c.5169A>T (p.Gln1723His) http://identifiers.org/clinvar/230714 ^@ NM_001042492.2(NF1):c.6379A>G (p.Ile2127Val) http://identifiers.org/clinvar/233004 ^@ NM_001042492.2(NF1):c.7411G>A (p.Val2471Ile) http://identifiers.org/clinvar/232804 ^@ NM_002878.3(RAD51D):c.358A>C (p.Met120Leu) http://identifiers.org/clinvar/233654 ^@ NM_007294.3(BRCA1):c.4430T>C (p.Phe1477Ser) http://identifiers.org/clinvar/233404 ^@ NM_007294.3(BRCA1):c.2381C>T (p.Ala794Val) http://identifiers.org/clinvar/230514 ^@ NM_007294.3(BRCA1):c.1931G>T (p.Cys644Phe) http://identifiers.org/clinvar/231714 ^@ NM_007294.3(BRCA1):c.1400A>G (p.Lys467Arg) http://identifiers.org/clinvar/232604 ^@ NM_058216.2(RAD51C):c.656T>C (p.Leu219Ser) http://identifiers.org/clinvar/233254 ^@ NM_032043.2(BRIP1):c.2772A>G (p.Glu924=) http://identifiers.org/clinvar/231014 ^@ NM_032043.2(BRIP1):c.1962C>A (p.Gly654=) http://identifiers.org/clinvar/231114 ^@ NM_032043.2(BRIP1):c.1899C>G (p.Ile633Met) http://identifiers.org/clinvar/233756 ^@ NM_032043.2(BRIP1):c.644C>T (p.Ser215Phe) http://identifiers.org/clinvar/231214 ^@ NM_000546.5(TP53):c.638G>C (p.Arg213Pro) http://identifiers.org/clinvar/230764 ^@ NM_000546.5(TP53):c.541C>A (p.Arg181Ser) http://identifiers.org/clinvar/231064 ^@ NM_007194.3(CHEK2):c.1089T>C (p.Leu363=) http://identifiers.org/clinvar/235366 ^@ NM_000387.5(SLC25A20):c.773G>A (p.Arg258Gln) http://identifiers.org/clinvar/235419 ^@ NM_015102.4(NPHP4):c.1705C>G (p.Gln569Glu) http://identifiers.org/clinvar/235475 ^@ NM_000159.3(GCDH):c.722G>A (p.Gly241Glu) http://identifiers.org/clinvar/235528 ^@ NM_005529.6(HSPG2):c.6002G>A (p.Arg2001Gln) http://identifiers.org/clinvar/235579 ^@ NC_012920.1:m.4733T>C http://identifiers.org/clinvar/235629 ^@ NM_020435.3(GJC2):c.17G>A (p.Trp6Ter) http://identifiers.org/clinvar/235683 ^@ NM_012414.3(RAB3GAP2):c.2290C>T (p.Leu764Phe) http://identifiers.org/clinvar/235745 ^@ NC_012920.1:m.5465T>C http://identifiers.org/clinvar/235819 ^@ NM_004826.3(ECEL1):c.1184G>A (p.Arg395Gln) http://identifiers.org/clinvar/235891 ^@ NM_025137.3(SPG11):c.1621C>T (p.Gln541Ter) http://identifiers.org/clinvar/236053 ^@ NM_016239.3(MYO15A):c.8467G>A (p.Asp2823Asn) http://identifiers.org/clinvar/236103 ^@ NM_000350.2(ABCA4):c.3529_3532dupTGCA (p.Ser1178Metfs) http://identifiers.org/clinvar/236153 ^@ NM_004621.5(TRPC6):c.2644+78G>T http://identifiers.org/clinvar/236212 ^@ NM_006734.3(HIVEP2):c.3556C>T (p.Gln1186Ter) http://identifiers.org/clinvar/236291 ^@ NM_198578.3(LRRK2):c.3187C>T (p.Leu1063Phe) http://identifiers.org/clinvar/236342 ^@ NC_000002.10:g.50882166_51255180del373015 http://identifiers.org/clinvar/236392 ^@ NC_000015.9:g.22646349_23140114del493766 http://identifiers.org/clinvar/236543 ^@ NM_206933.2(USH2A):c.6118T>G (p.Cys2040Gly) http://identifiers.org/clinvar/236443 ^@ NM_001142564.1(CNGA1):c.1747C>T (p.Arg583Ter) http://identifiers.org/clinvar/236493 ^@ NM_181714.3(LCA5):c.633_639delAGCTAGA (p.Glu211Aspfs) http://identifiers.org/clinvar/239443 ^@ NM_003000.2(SDHB):c.724C>A (p.Arg242Ser) http://identifiers.org/clinvar/238239 ^@ NM_001035.2(RYR2):c.6726G>A (p.Val2242=) http://identifiers.org/clinvar/238339 ^@ NM_001128425.1(MUTYH):c.1513T>G (p.Cys505Gly) http://identifiers.org/clinvar/238689 ^@ NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala) http://identifiers.org/clinvar/238839 ^@ NM_001267550.2(TTN):c.73570C>A (p.Gln24524Lys) http://identifiers.org/clinvar/238789 ^@ NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr) http://identifiers.org/clinvar/238739 ^@ NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) http://identifiers.org/clinvar/237739 ^@ NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) http://identifiers.org/clinvar/237839 ^@ NM_000465.3(BARD1):c.545T>G (p.Phe182Cys) http://identifiers.org/clinvar/242193 ^@ NM_000335.4(SCN5A):c.3142_3154delCCCATCGCTGTGGinsTCTGACTGTGT (p.Pro1048Serfs) http://identifiers.org/clinvar/238589 ^@ NM_001148.4(ANK2):c.7488A>G (p.Thr2496=) http://identifiers.org/clinvar/236593 ^@ NM_000038.5(APC):c.3552C>T (p.Ala1184=) http://identifiers.org/clinvar/236643 ^@ NM_000038.5(APC):c.7391C>A (p.Ser2464Tyr) http://identifiers.org/clinvar/239090 ^@ NM_001999.3(FBN2):c.6490A>G (p.Ser2164Gly) http://identifiers.org/clinvar/242243 ^@ NM_198253.2(TERT):c.544A>T (p.Thr182Ser) http://identifiers.org/clinvar/238189 ^@ NM_000816.3(GABRG2):c.530delG (p.Arg177Glnfs) http://identifiers.org/clinvar/238639 ^@ NM_001206927.1(DNAH8):c.2549A>G (p.Glu850Gly) http://identifiers.org/clinvar/239390 ^@ NM_002769.4(PRSS1):c.243G>C (p.Leu81=) http://identifiers.org/clinvar/238939 ^@ NM_001277115.1(DNAH11):c.9018G>A (p.Thr3006=) http://identifiers.org/clinvar/238889 ^@ NM_001277115.1(DNAH11):c.11277C>G (p.Ile3759Met) http://identifiers.org/clinvar/237889 ^@ NM_000535.6(PMS2):c.1569C>T (p.Ser523=) http://identifiers.org/clinvar/257992 ^@ NM_001369.2(DNAH5):c.12279+50A>G http://identifiers.org/clinvar/258042 ^@ NM_001369.2(DNAH5):c.5196G>T (p.Ala1732=) http://identifiers.org/clinvar/261592 ^@ NM_022455.4(NSD1):c.5623-22G>A http://identifiers.org/clinvar/256053 ^@ NM_000426.3(LAMA2):c.1467+38C>T http://identifiers.org/clinvar/262192 ^@ NM_033071.3(SYNE1):c.24976-16G>T http://identifiers.org/clinvar/256303 ^@ NM_000500.7(CYP21A2):c.939+11G>C http://identifiers.org/clinvar/262392 ^@ NM_138694.3(PKHD1):c.1950G>A (p.Arg650=) http://identifiers.org/clinvar/256253 ^@ NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) http://identifiers.org/clinvar/257842 ^@ NM_001277115.1(DNAH11):c.-14C>T http://identifiers.org/clinvar/257892 ^@ NM_001277115.1(DNAH11):c.421G>T (p.Asp141Tyr) http://identifiers.org/clinvar/257942 ^@ NM_001277115.1(DNAH11):c.9642A>G (p.Ala3214=) http://identifiers.org/clinvar/257053 ^@ NM_001017420.2(ESCO2):c.1013+35G>A http://identifiers.org/clinvar/262742 ^@ NM_153704.5(TMEM67):c.1518+18T>C http://identifiers.org/clinvar/262442 ^@ NM_139025.4(ADAMTS13):c.3108G>A (p.Ser1036=) http://identifiers.org/clinvar/262542 ^@ NM_144966.5(FREM1):c.4791T>C (p.Asp1597=) http://identifiers.org/clinvar/262842 ^@ NM_173551.4(ANKS6):c.1533A>C (p.Ala511=) http://identifiers.org/clinvar/261992 ^@ NM_032024.4(C10orf11):c.527G>A (p.Gly176Glu) http://identifiers.org/clinvar/256103 ^@ NM_000429.2(MAT1A):c.1085+14C>T http://identifiers.org/clinvar/256853 ^@ NM_001002295.1(GATA3):c.606T>C (p.Arg202=) http://identifiers.org/clinvar/261792 ^@ NM_024809.4(TCTN2):c.995G>T (p.Gly332Val) http://identifiers.org/clinvar/258192 ^@ NM_001843.3(CNTN1):c.1401T>C (p.Gly467=) http://identifiers.org/clinvar/256703 ^@ NM_000552.4(VWF):c.8116-20A>C http://identifiers.org/clinvar/256653 ^@ NM_000552.4(VWF):c.1433-10T>C http://identifiers.org/clinvar/261842 ^@ NM_025114.3(CEP290):c.2991+39A>G http://identifiers.org/clinvar/254764 ^@ NM_000053.3(ATP7B):c.2448-25G>A http://identifiers.org/clinvar/255953 ^@ NM_000369.2(TSHR):c.561T>C (p.Asn187=) http://identifiers.org/clinvar/262892 ^@ NM_174916.2(UBR1):c.2695A>G (p.Ile899Val) http://identifiers.org/clinvar/335639 ^@ NM_001029883.2(C2orf71):c.3658G>A (p.Gly1220Ser) http://identifiers.org/clinvar/334989 ^@ NM_000751.2(CHRND):c.*641C>T http://identifiers.org/clinvar/335689 ^@ NM_004304.4(ALK):c.4375G>T (p.Ala1459Ser) http://identifiers.org/clinvar/332998 ^@ NM_201548.4(CERKL):c.*295G>A http://identifiers.org/clinvar/335139 ^@ NM_004369.3(COL6A3):c.1574C>T (p.Thr525Met) http://identifiers.org/clinvar/333098 ^@ NM_000393.4(COL5A2):c.*1904C>T http://identifiers.org/clinvar/332848 ^@ NM_133378.4(TTN):c.41559C>T (p.Tyr13853=) http://identifiers.org/clinvar/333148 ^@ NM_000393.4(COL5A2):c.799-7C>A http://identifiers.org/clinvar/335289 ^@ NM_004321.7(KIF1A):c.-38C>G http://identifiers.org/clinvar/332948 ^@ NM_133378.4(TTN):c.7156G>A (p.Gly2386Ser) http://identifiers.org/clinvar/333298 ^@ NM_007315.3(STAT1):c.-298C>T http://identifiers.org/clinvar/335389 ^@ NM_000182.4(HADHA):c.68-10T>G http://identifiers.org/clinvar/335439 ^@ NM_194248.2(OTOF):c.3599C>T (p.Pro1200Leu) http://identifiers.org/clinvar/333048 ^@ NM_000090.3(COL3A1):c.333+15T>C http://identifiers.org/clinvar/333548 ^@ NM_001044385.2(TMEM237):c.*1378A>G http://identifiers.org/clinvar/333248 ^@ NM_007315.3(STAT1):c.*1399A>G http://identifiers.org/clinvar/336696 ^@ NM_002618.3(PEX13):c.*1943G>A http://identifiers.org/clinvar/333648 ^@ NM_001204.6(BMPR2):c.2379A>C (p.Thr793=) http://identifiers.org/clinvar/336646 ^@ NM_001039348.2(EFEMP1):c.-460C>A http://identifiers.org/clinvar/337635 ^@ NM_001079.3(ZAP70):c.1083-3C>A http://identifiers.org/clinvar/334539 ^@ NM_015311.2(OBSL1):c.56G>A (p.Arg19Gln) http://identifiers.org/clinvar/334639 ^@ NM_000092.4(COL4A4):c.*4534T>C http://identifiers.org/clinvar/334439 ^@ NM_002181.3(IHH):c.755A>G (p.His252Arg) http://identifiers.org/clinvar/334689 ^@ NM_000092.4(COL4A4):c.*755T>C http://identifiers.org/clinvar/334489 ^@ NM_015311.2(OBSL1):c.4005C>A (p.Asp1335Glu) http://identifiers.org/clinvar/334589 ^@ NM_003590.4(CUL3):c.*2868T>C http://identifiers.org/clinvar/334939 ^@ NM_152383.4(DIS3L2):c.1599C>T (p.His533=) http://identifiers.org/clinvar/335189 ^@ NM_004544.3(NDUFA10):c.*631C>T http://identifiers.org/clinvar/335339 ^@ NM_152783.4(D2HGDH):c.*474C>T http://identifiers.org/clinvar/335489 ^@ NM_000221.2(KHK):c.463G>A (p.Ala155Thr) http://identifiers.org/clinvar/335539 ^@ NM_015636.3(EIF2B4):c.809C>T (p.Ala270Val) http://identifiers.org/clinvar/335589 ^@ NM_001029883.2(C2orf71):c.*2209G>A http://identifiers.org/clinvar/357531 ^@ NM_001723.5(DST):c.*666C>T http://identifiers.org/clinvar/357581 ^@ NM_001723.5(DST):c.4049C>T (p.Thr1350Met) http://identifiers.org/clinvar/357631 ^@ NM_183227.2(RAB23):c.*811G>A http://identifiers.org/clinvar/350894 ^@ NM_000358.2(TGFBI):c.1803G>A (p.Leu601=) http://identifiers.org/clinvar/350994 ^@ NM_001369.2(DNAH5):c.13672A>G (p.Lys4558Glu) http://identifiers.org/clinvar/358420 ^@ NM_005045.3(RELN):c.338-9T>C http://identifiers.org/clinvar/351294 ^@ NM_005219.4(DIAPH1):c.1848_1853delTCCTCC (p.Pro619_Pro620del) http://identifiers.org/clinvar/358570 ^@ NM_000108.4(DLD):c.1228A>C (p.Lys410Gln) http://identifiers.org/clinvar/358670 ^@ NM_014491.3(FOXP2):c.*3608A>G http://identifiers.org/clinvar/351544 ^@ NM_054027.4(ANKH):c.560G>A (p.Arg187Gln) http://identifiers.org/clinvar/351344 ^@ NM_001018077.1(NR3C1):c.*1087_*1088dupAA http://identifiers.org/clinvar/358720 ^@ NM_001127500.2(MET):c.*1636C>T http://identifiers.org/clinvar/351444 ^@ NM_054027.4(ANKH):c.*2644G>C http://identifiers.org/clinvar/358920 ^@ NM_018718.2(CEP41):c.*1931C>T http://identifiers.org/clinvar/351794 ^@ NM_024577.3(SH3TC2):c.*6242A>G http://identifiers.org/clinvar/351644 ^@ NM_024577.3(SH3TC2):c.*15824G>A http://identifiers.org/clinvar/351894 ^@ NM_024577.3(SH3TC2):c.*47C>T http://identifiers.org/clinvar/359120 ^@ NM_000083.2(CLCN1):c.2207C>T (p.Thr736Ile) http://identifiers.org/clinvar/351944 ^@ NM_000440.2(PDE6A):c.*2461C>T http://identifiers.org/clinvar/359270 ^@ NM_014141.5(CNTNAP2):c.*4768G>A http://identifiers.org/clinvar/359320 ^@ NM_016203.3(PRKAG2):c.*1061G>A http://identifiers.org/clinvar/359370 ^@ NM_022458.3(LMBR1):c.*2926G>C http://identifiers.org/clinvar/351844 ^@ NM_024577.3(SH3TC2):c.*3061A>G http://identifiers.org/clinvar/356231 ^@ NM_000434.3(NEU1):c.888T>C (p.Tyr296=) http://identifiers.org/clinvar/351994 ^@ NM_000440.2(PDE6A):c.830T>C (p.Val277Ala) http://identifiers.org/clinvar/359620 ^@ NM_001277115.1(DNAH11):c.3422A>T (p.Asp1141Val) http://identifiers.org/clinvar/356381 ^@ NM_080680.2(COL11A2):c.4951G>A (p.Val1651Ile) http://identifiers.org/clinvar/352581 ^@ NM_000806.5(GABRA1):c.-449G>C http://identifiers.org/clinvar/360070 ^@ NM_198428.2(BBS9):c.2460C>T (p.Ser820=) http://identifiers.org/clinvar/352481 ^@ NM_005546.3(ITK):c.*386G>A http://identifiers.org/clinvar/352681 ^@ NM_001034850.2(RETREG1):c.*206A>C http://identifiers.org/clinvar/352731 ^@ NM_001017995.2(SH3PXD2B):c.*4693C>T http://identifiers.org/clinvar/352881 ^@ NM_022455.4(NSD1):c.3397A>G (p.Lys1133Glu) http://identifiers.org/clinvar/352831 ^@ NM_001017995.2(SH3PXD2B):c.-56C>G http://identifiers.org/clinvar/352981 ^@ NM_003052.4(SLC34A1):c.*239C>A http://identifiers.org/clinvar/357331 ^@ NM_003221.3(TFAP2B):c.*2497C>G http://identifiers.org/clinvar/353081 ^@ NM_014244.4(ADAMTS2):c.*183T>C http://identifiers.org/clinvar/353331 ^@ NM_004172.4(SLC1A3):c.*231G>A http://identifiers.org/clinvar/353481 ^@ NM_000514.3(GDNF):c.*2067delC http://identifiers.org/clinvar/353531 ^@ NM_002310.5(LIFR):c.*5670A>G http://identifiers.org/clinvar/361460 ^@ NM_001715.2(BLK):c.-448T>C http://identifiers.org/clinvar/353381 ^@ NM_133433.3(NIPBL):c.4699C>A (p.Gln1567Lys) http://identifiers.org/clinvar/361619 ^@ NM_014112.4(TRPS1):c.1902C>G (p.Phe634Leu) http://identifiers.org/clinvar/361669 ^@ NM_000127.2(EXT1):c.-358T>C http://identifiers.org/clinvar/353431 ^@ NM_023073.3(C5orf42):c.7596A>G (p.Leu2532=) http://identifiers.org/clinvar/363808 ^@ NM_000318.2(PEX2):c.*458G>A http://identifiers.org/clinvar/363858 ^@ NM_019098.4(CNGB3):c.*621G>A http://identifiers.org/clinvar/300011 ^@ NM_000124.3(ERCC6):c.*1383T>G http://identifiers.org/clinvar/363958 ^@ NM_018444.3(PDP1):c.*1113T>C http://identifiers.org/clinvar/300361 ^@ NM_018344.5(SLC29A3):c.498G>C (p.Ala166=) http://identifiers.org/clinvar/300411 ^@ NM_022124.5(CDH23):c.2176+12C>T http://identifiers.org/clinvar/364408 ^@ NM_005502.3(ABCA1):c.3985T>G (p.Phe1329Val) http://identifiers.org/clinvar/300461 ^@ NM_022124.5(CDH23):c.8309-3C>T http://identifiers.org/clinvar/300661 ^@ NM_004273.4(CHST3):c.*3987G>A http://identifiers.org/clinvar/364758 ^@ NM_018249.5(CDK5RAP2):c.3240T>G (p.Thr1080=) http://identifiers.org/clinvar/300761 ^@ NM_002658.4(PLAU):c.1222G>A (p.Val408Ile) http://identifiers.org/clinvar/364658 ^@ NM_000031.5(ALAD):c.-4C>T http://identifiers.org/clinvar/364708 ^@ NM_015404.3(WHRN):c.-517C>T http://identifiers.org/clinvar/364808 ^@ NM_000177.4(GSN):c.1251G>A (p.Val417=) http://identifiers.org/clinvar/364858 ^@ NM_000550.2(TYRP1):c.1279T>C (p.Leu427=) http://identifiers.org/clinvar/308404 ^@ NM_012062.4(DNM1L):c.*402A>G http://identifiers.org/clinvar/308654 ^@ NM_198578.3(LRRK2):c.*223C>T http://identifiers.org/clinvar/308754 ^@ NM_016123.3(IRAK4):c.*1794T>C http://identifiers.org/clinvar/309004 ^@ NM_003482.3(KMT2D):c.14883C>T (p.Pro4961=) http://identifiers.org/clinvar/309254 ^@ NM_000486.5(AQP2):c.*1395C>T http://identifiers.org/clinvar/309354 ^@ NM_014191.3(SCN8A):c.2432A>G (p.Tyr811Cys) http://identifiers.org/clinvar/365998 ^@ NM_024757.4(EHMT1):c.551C>T (p.Ala184Val) http://identifiers.org/clinvar/365697 ^@ NM_000093.4(COL5A1):c.-364G>C http://identifiers.org/clinvar/365847 ^@ NM_052813.4(CARD9):c.801C>T (p.Ser267=) http://identifiers.org/clinvar/309654 ^@ NM_006121.3(KRT1):c.302G>T (p.Gly101Val) http://identifiers.org/clinvar/365898 ^@ NM_019892.5(INPP5E):c.-343T>C http://identifiers.org/clinvar/309804 ^@ NM_002206.2(ITGA7):c.-151G>T http://identifiers.org/clinvar/302250 ^@ NM_000051.3(ATM):c.4431C>A (p.Asn1477Lys) http://identifiers.org/clinvar/309954 ^@ NM_004984.2(KIF5A):c.*163C>T http://identifiers.org/clinvar/366548 ^@ NM_005802.4(TOPORS):c.*733_*737delCTTTA http://identifiers.org/clinvar/366198 ^@ NM_003070.4(SMARCA2):c.669G>A (p.Gln223=) http://identifiers.org/clinvar/366298 ^@ NM_002451.3(MTAP):c.*2606G>C http://identifiers.org/clinvar/302700 ^@ NM_001164277.1(SLC37A4):c.*138C>T http://identifiers.org/clinvar/366698 ^@ NM_000155.3(GALT):c.687+9G>C http://identifiers.org/clinvar/366348 ^@ NM_003383.4(VLDLR):c.-122T>C http://identifiers.org/clinvar/366748 ^@ NM_032634.3(PIGO):c.*372A>T http://identifiers.org/clinvar/310948 ^@ NM_002312.3(LIG4):c.*1035G>A http://identifiers.org/clinvar/310998 ^@ NM_002312.3(LIG4):c.-32C>T http://identifiers.org/clinvar/321972 ^@ NM_017775.3(TTC19):c.*1323_*1324dupAA http://identifiers.org/clinvar/340526 ^@ NM_006031.5(PCNT):c.7061G>T (p.Gly2354Val) http://identifiers.org/clinvar/314487 ^@ NM_004452.3(ESRRB):c.596T>C (p.Leu199Ser) http://identifiers.org/clinvar/340726 ^@ NM_014339.6(IL17RA):c.*5219G>C http://identifiers.org/clinvar/322272 ^@ NM_000430.3(PAFAH1B1):c.*701C>T http://identifiers.org/clinvar/314687 ^@ NM_004863.3(SPTLC2):c.-181C>G http://identifiers.org/clinvar/340926 ^@ NM_016327.2(UPB1):c.-11G>A http://identifiers.org/clinvar/314787 ^@ NM_018418.4(SPATA7):c.1216-4C>T http://identifiers.org/clinvar/314837 ^@ NM_018319.3(TDP1):c.1343G>A (p.Arg448Gln) http://identifiers.org/clinvar/322522 ^@ NM_001045.5(SLC6A4):c.*442A>T http://identifiers.org/clinvar/341276 ^@ NM_000343.3(SLC5A1):c.*707G>A http://identifiers.org/clinvar/341326 ^@ NM_000362.4(TIMP3):c.-1136G>C http://identifiers.org/clinvar/341476 ^@ NM_002473.5(MYH9):c.*539G>A http://identifiers.org/clinvar/322972 ^@ NM_001004334.3(GPR179):c.6075A>T (p.Glu2025Asp) http://identifiers.org/clinvar/323072 ^@ NM_002274.3(KRT13):c.*173C>T http://identifiers.org/clinvar/313737 ^@ NM_000347.5(SPTB):c.3536A>G (p.Gln1179Arg) http://identifiers.org/clinvar/315776 ^@ NM_152594.2(SPRED1):c.*3996G>A http://identifiers.org/clinvar/367837 ^@ NM_001167.3(XIAP):c.*4610C>T http://identifiers.org/clinvar/314037 ^@ NM_031427.3(DNAL1):c.*1573G>T http://identifiers.org/clinvar/314087 ^@ NM_031427.3(DNAL1):c.*4303C>T http://identifiers.org/clinvar/368037 ^@ NM_001018113.2(FANCB):c.-229T>G http://identifiers.org/clinvar/314287 ^@ NM_000428.2(LTBP2):c.3076A>G (p.Thr1026Ala) http://identifiers.org/clinvar/314337 ^@ NM_014239.3(EIF2B2):c.899-11T>G http://identifiers.org/clinvar/324061 ^@ NM_000088.3(COL1A1):c.*1045delA http://identifiers.org/clinvar/316326 ^@ NM_000138.4(FBN1):c.*1635C>A http://identifiers.org/clinvar/314437 ^@ NM_003239.4(TGFB3):c.*830G>A http://identifiers.org/clinvar/316426 ^@ NM_014985.3(CEP152):c.1153G>T (p.Val385Phe) http://identifiers.org/clinvar/324218 ^@ NM_015294.4(TRIM37):c.-335T>A http://identifiers.org/clinvar/324268 ^@ NM_018488.3(TBX4):c.*136_*137dupGT http://identifiers.org/clinvar/314537 ^@ NM_013382.5(POMT2):c.*758G>A http://identifiers.org/clinvar/314587 ^@ NM_004863.3(SPTLC2):c.*4493dupT http://identifiers.org/clinvar/316676 ^@ NM_000236.2(LIPC):c.1203C>T (p.Ser401=) http://identifiers.org/clinvar/316726 ^@ NM_016630.6(SPG21):c.-8A>C http://identifiers.org/clinvar/314887 ^@ NM_006329.3(FBLN5):c.-389C>A http://identifiers.org/clinvar/324820 ^@ NM_002734.4(PRKAR1A):c.*2196C>T http://identifiers.org/clinvar/315626 ^@ NM_133647.1(SLC12A6):c.21C>T (p.Thr7=) http://identifiers.org/clinvar/315726 ^@ NM_152594.2(SPRED1):c.-244T>C http://identifiers.org/clinvar/315926 ^@ NM_138477.2(CDAN1):c.2869-5C>T http://identifiers.org/clinvar/316276 ^@ NM_000338.2(SLC12A1):c.2854A>C (p.Ile952Leu) http://identifiers.org/clinvar/372081 ^@ NM_020975.4(RET):c.1187C>T (p.Ser396Leu) http://identifiers.org/clinvar/372136 ^@ NM_001134364.1(MAP4):c.1171G>A (p.Ala391Thr) http://identifiers.org/clinvar/372205 ^@ NM_014339.6(IL17RA):c.1159G>A (p.Asp387Asn) http://identifiers.org/clinvar/372264 ^@ NM_014604.3(TAX1BP3):c.98T>C (p.Ile33Thr) http://identifiers.org/clinvar/372833 ^@ NM_001114748.1(TMEM240):c.196G>A (p.Gly66Arg) http://identifiers.org/clinvar/373037 ^@ NM_025207.4(FLAD1):c.408C>A (p.Cys136Ter) http://identifiers.org/clinvar/372577 ^@ NM_005633.3(SOS1):c.83A>G (p.Lys28Arg) http://identifiers.org/clinvar/372317 ^@ NM_001080522.2(CC2D2A):c.4550C>G (p.Thr1517Ser) http://identifiers.org/clinvar/372367 ^@ NM_001457.3(FLNB):c.1588G>T (p.Gly530Trp) http://identifiers.org/clinvar/372627 ^@ NM_004333.4(BRAF):c.1166G>A (p.Arg389His) http://identifiers.org/clinvar/373137 ^@ NM_000168.5(GLI3):c.313C>T (p.Arg105Cys) http://identifiers.org/clinvar/372679 ^@ NM_004415.3(DSP):c.7491_7492delTG (p.Cys2497Terfs) http://identifiers.org/clinvar/372525 ^@ NM_016169.3(SUFU):c.794_808delACCTGAGTGGTGTCA (p.Asn265_Val269del) http://identifiers.org/clinvar/372987 ^@ NM_006624.5(ZMYND11):c.1237C>T (p.Pro413Ser) http://identifiers.org/clinvar/372418 ^@ NM_000256.3(MYBPC3):c.373_374delGC (p.Ala125Terfs) http://identifiers.org/clinvar/373337 ^@ NM_014363.5(SACS):c.13538G>A (p.Ser4513Asn) http://identifiers.org/clinvar/373387 ^@ NM_000153.3(GALC):c.1399dupA (p.Thr467Asnfs) http://identifiers.org/clinvar/373287 ^@ NM_152594.2(SPRED1):c.424-4A>G http://identifiers.org/clinvar/372473 ^@ NM_002693.2(POLG):c.2897T>G (p.Leu966Arg) http://identifiers.org/clinvar/373437 ^@ NM_000018.3(ACADVL):c.1803G>A (p.Met601Ile) http://identifiers.org/clinvar/373187 ^@ NM_002968.2(SALL1):c.1393C>T (p.Gln465Ter) http://identifiers.org/clinvar/372937 ^@ NM_001614.3(ACTG1):c.43G>C (p.Gly15Arg) http://identifiers.org/clinvar/373237 ^@ NM_177550.4(SLC13A5):c.716+5G>A http://identifiers.org/clinvar/372781 ^@ NM_000199.3(SGSH):c.571G>A (p.Gly191Arg) http://identifiers.org/clinvar/373087 ^@ NM_001396.3(DYRK1A):c.349C>T (p.Arg117Ter) http://identifiers.org/clinvar/372884 ^@ NM_018486.2(HDAC8):c.419G>T (p.Gly140Val) http://identifiers.org/clinvar/372731 ^@ NM_203475.2(PORCN):c.1250T>C (p.Phe417Ser) http://identifiers.org/clinvar/375218 ^@ NC_000017.10:g.(?_34815072)_(36192492_?)del http://identifiers.org/clinvar/375333 ^@ NM_020247.4(COQ8A):c.1081-1_1082dupGTA http://identifiers.org/clinvar/375384 ^@ NM_001135774.1(SYN3):c.1441_1442delCCinsTT (p.Pro481Leu) http://identifiers.org/clinvar/375439 ^@ NM_153427.2(PITX2):c.274G>C (p.Ala92Pro) http://identifiers.org/clinvar/375508 ^@ NM_021007.2(SCN2A):c.2687C>T (p.Ala896Val) http://identifiers.org/clinvar/375565 ^@ NM_032578.3(MYPN):c.3076-2A>C http://identifiers.org/clinvar/375625 ^@ NM_001135659.2(NRXN1):c.162G>A (p.Met54Ile) http://identifiers.org/clinvar/375676 ^@ NM_016239.3(MYO15A):c.6944delG (p.Gly2315Glufs) http://identifiers.org/clinvar/375770 ^@ NM_000527.4(LDLR):c.-155_-150delACCCCA http://identifiers.org/clinvar/375820 ^@ NM_000527.4(LDLR):c.1705G>A (p.Asp569Asn) http://identifiers.org/clinvar/375873 ^@ NM_002524.4(NRAS):c.182_183delAAinsGG (p.Gln61Arg) http://identifiers.org/clinvar/375923 ^@ NM_000222.2(KIT):c.1965T>A (p.Asn655Lys) http://identifiers.org/clinvar/387327 ^@ NM_015120.4(ALMS1):c.9910+20C>T http://identifiers.org/clinvar/392005 ^@ NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) http://identifiers.org/clinvar/392905 ^@ NM_001011.3(RPS7):c.11C>T (p.Ser4Leu) http://identifiers.org/clinvar/393155 ^@ NM_003242.5(TGFBR2):c.1063G>A (p.Ala355Thr) http://identifiers.org/clinvar/392255 ^@ NM_003392.4(WNT5A):c.1052A>T (p.Gln351Leu) http://identifiers.org/clinvar/378588 ^@ NM_000387.5(SLC25A20):c.720A>G (p.Ala240=) http://identifiers.org/clinvar/387677 ^@ NM_005051.2(QARS):c.295T>C (p.Leu99=) http://identifiers.org/clinvar/378282 ^@ NM_001135659.2(NRXN1):c.321G>T (p.Thr107=) http://identifiers.org/clinvar/389466 ^@ NM_000038.5(APC):c.6792T>G (p.Gly2264=) http://identifiers.org/clinvar/377480 ^@ NM_001148.4(ANK2):c.11459G>A (p.Arg3820Gln) http://identifiers.org/clinvar/390116 ^@ NM_001999.3(FBN2):c.1079-14T>G http://identifiers.org/clinvar/390316 ^@ NM_000806.5(GABRA1):c.261T>C (p.Tyr87=) http://identifiers.org/clinvar/387277 ^@ NM_000038.5(APC):c.3543A>G (p.Leu1181=) http://identifiers.org/clinvar/392355 ^@ NM_024577.3(SH3TC2):c.1653C>T (p.Phe551=) http://identifiers.org/clinvar/388377 ^@ NM_015560.2(OPA1):c.1212+10T>C http://identifiers.org/clinvar/383386 ^@ NM_000249.3(MLH1):c.2103+6G>T http://identifiers.org/clinvar/387977 ^@ NM_002887.3(RARS):c.1239T>G (p.Ser413=) http://identifiers.org/clinvar/383486 ^@ NM_002454.2(MTRR):c.1641C>T (p.Thr547=) http://identifiers.org/clinvar/388077 ^@ NM_002290.4(LAMA4):c.66C>T (p.Ser22=) http://identifiers.org/clinvar/389616 ^@ NM_020745.3(AARS2):c.1764C>T (p.Phe588=) http://identifiers.org/clinvar/378386 ^@ NM_000535.6(PMS2):c.1145-16G>T http://identifiers.org/clinvar/392055 ^@ NM_000445.4(PLEC):c.7536G>T (p.Leu2512=) http://identifiers.org/clinvar/382395 ^@ NM_002887.3(RARS):c.1127T>A (p.Val376Glu) http://identifiers.org/clinvar/392605 ^@ NM_000501.3(ELN):c.594G>A (p.Pro198=) http://identifiers.org/clinvar/378232 ^@ NM_002485.4(NBN):c.321-17C>G http://identifiers.org/clinvar/389166 ^@ NM_002485.4(NBN):c.38-8T>C http://identifiers.org/clinvar/383436 ^@ NM_020822.2(KCNT1):c.2729+9A>G http://identifiers.org/clinvar/377830 ^@ NM_005670.3(EPM2A):c.718+19C>G http://identifiers.org/clinvar/392755 ^@ NM_017617.4(NOTCH1):c.3510+11C>T http://identifiers.org/clinvar/392205 ^@ NM_017617.4(NOTCH1):c.3288G>C (p.Val1096=) http://identifiers.org/clinvar/385288 ^@ NM_004408.3(DNM1):c.1200G>A (p.Thr400=) http://identifiers.org/clinvar/392855 ^@ NM_001018116.2(CAVIN4):c.28G>A (p.Ala10Thr) http://identifiers.org/clinvar/385638 ^@ NM_138361.5(LRSAM1):c.267C>T (p.His89=) http://identifiers.org/clinvar/389216 ^@ NM_004408.3(DNM1):c.*19C>T http://identifiers.org/clinvar/390166 ^@ NM_020822.2(KCNT1):c.1554G>A (p.Ala518=) http://identifiers.org/clinvar/133866 ^@ NM_015083.2(CDK12):c.3832T>G (p.Ser1278Ala) http://identifiers.org/clinvar/133916 ^@ NM_015125.4(CIC):c.3956C>T (p.Pro1319Leu) http://identifiers.org/clinvar/133966 ^@ NM_177438.2(DICER1):c.2557A>G (p.Ile853Val) http://identifiers.org/clinvar/134016 ^@ NM_001077706.2(ECT2L):c.1135A>T (p.Ser379Cys) http://identifiers.org/clinvar/134319 ^@ NM_033084.4(FANCD2):c.195G>C (p.Gln65His) http://identifiers.org/clinvar/134370 ^@ NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) http://identifiers.org/clinvar/134420 ^@ NM_030917.3(FIP1L1):c.784T>C (p.Ser262Pro) http://identifiers.org/clinvar/134470 ^@ NM_001002295.1(GATA3):c.737G>C (p.Gly246Ala) http://identifiers.org/clinvar/134520 ^@ NM_001282386.1(IDH1):c.532G>A (p.Val178Ile) http://identifiers.org/clinvar/134570 ^@ NM_000215.3(JAK3):c.1830G>A (p.Met610Ile) http://identifiers.org/clinvar/134620 ^@ NM_002253.2(KDR):c.1192G>A (p.Val398Ile) http://identifiers.org/clinvar/134672 ^@ NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) http://identifiers.org/clinvar/134723 ^@ NM_003482.3(KMT2D):c.13817A>G (p.Tyr4606Cys) http://identifiers.org/clinvar/134773 ^@ NM_170606.2(KMT2C):c.8502A>T (p.Glu2834Asp) http://identifiers.org/clinvar/134824 ^@ NM_005373.2(MPL):c.263G>A (p.Gly88Glu) http://identifiers.org/clinvar/134877 ^@ NM_002485.4(NBN):c.872A>G (p.Gln291Arg) http://identifiers.org/clinvar/134927 ^@ NM_017617.4(NOTCH1):c.3338C>T (p.Ala1113Val) http://identifiers.org/clinvar/134977 ^@ NM_024408.3(NOTCH2):c.4999G>A (p.Val1667Ile) http://identifiers.org/clinvar/135027 ^@ NM_006206.4(PDGFRA):c.1057A>C (p.Asn353His) http://identifiers.org/clinvar/135078 ^@ NM_001198.3(PRDM1):c.811A>G (p.Ile271Val) http://identifiers.org/clinvar/135129 ^@ NM_004260.3(RECQL4):c.1697T>C (p.Leu566Pro) http://identifiers.org/clinvar/135180 ^@ NM_020975.4(RET):c.2875C>T (p.Arg959Trp) http://identifiers.org/clinvar/135210 ^@ NM_014159.6(SETD2):c.1687A>G (p.Ile563Val) http://identifiers.org/clinvar/135261 ^@ NM_005631.4(SMO):c.2227C>A (p.Pro743Thr) http://identifiers.org/clinvar/135311 ^@ NM_001127208.2(TET2):c.1724C>T (p.Ala575Val) http://identifiers.org/clinvar/135361 ^@ NM_000546.5(TP53):c.993+223T>G http://identifiers.org/clinvar/135412 ^@ NM_000377.2(WAS):c.194C>G (p.Thr65Ser) http://identifiers.org/clinvar/135462 ^@ NM_000380.3(XPA):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/135512 ^@ NM_000107.2(DDB2):c.128-66C>T http://identifiers.org/clinvar/135563 ^@ NM_005373.2(MPL):c.79+2T>A http://identifiers.org/clinvar/135637 ^@ NM_003647.2(DGKE):c.1000C>T (p.Gln334Ter) http://identifiers.org/clinvar/135697 ^@ NM_000038.5(APC):c.3554C>T (p.Thr1185Ile) http://identifiers.org/clinvar/135748 ^@ NM_000051.3(ATM):c.3150T>C (p.Leu1050=) http://identifiers.org/clinvar/135806 ^@ NM_000059.3(BRCA2):c.5682C>T (p.Tyr1894=) http://identifiers.org/clinvar/135857 ^@ NM_000251.2(MSH2):c.2458+8C>G http://identifiers.org/clinvar/135907 ^@ NM_000264.3(PTCH1):c.801G>A (p.Glu267=) http://identifiers.org/clinvar/135957 ^@ NM_001127500.2(MET):c.1191C>T (p.Cys397=) http://identifiers.org/clinvar/186162 ^@ NM_001042492.2(NF1):c.7213A>G (p.Ile2405Val) http://identifiers.org/clinvar/187753 ^@ NM_002878.3(RAD51D):c.979C>T (p.Gln327Ter) http://identifiers.org/clinvar/184912 ^@ NM_007294.3(BRCA1):c.3012G>A (p.Glu1004=) http://identifiers.org/clinvar/186062 ^@ NM_007294.3(BRCA1):c.3004A>G (p.Asn1002Asp) http://identifiers.org/clinvar/187653 ^@ NM_032043.2(BRIP1):c.1623T>C (p.Asn541=) http://identifiers.org/clinvar/185212 ^@ NM_000546.5(TP53):c.943T>A (p.Ser315Thr) http://identifiers.org/clinvar/185612 ^@ NM_000546.5(TP53):c.651_666del16 (p.Val218Leufs) http://identifiers.org/clinvar/187153 ^@ NM_000546.5(TP53):c.210T>C (p.Ala70=) http://identifiers.org/clinvar/185412 ^@ NM_000455.4(STK11):c.100G>T (p.Val34Phe) http://identifiers.org/clinvar/185262 ^@ NM_000455.4(STK11):c.921-3C>T http://identifiers.org/clinvar/187814 ^@ NM_014795.3(ZEB2):c.2365delT (p.Ser789Profs) http://identifiers.org/clinvar/187886 ^@ NM_005957.4(MTHFR):c.1004G>A (p.Arg335His) http://identifiers.org/clinvar/187936 ^@ NM_004409.4(DMPK):c.*224_*226[197] http://identifiers.org/clinvar/187986 ^@ NM_004409.4(DMPK):c.*224_*226[455] http://identifiers.org/clinvar/188036 ^@ NM_004409.4(DMPK):c.*224_*226[83] http://identifiers.org/clinvar/188347 ^@ NM_000179.2(MSH6):c.3439G>A (p.Ala1147Thr) http://identifiers.org/clinvar/188188 ^@ NM_000179.2(MSH6):c.4005A>C (p.Glu1335Asp) http://identifiers.org/clinvar/188240 ^@ NM_000038.5(APC):c.4175C>A (p.Ser1392Ter) http://identifiers.org/clinvar/188137 ^@ NM_002485.4(NBN):c.2134_2136delCAT (p.His712del) http://identifiers.org/clinvar/188086 ^@ NM_000267.3(NF1):c.1782_1783delAG (p.Glu595Asnfs) http://identifiers.org/clinvar/188293 ^@ NM_007294.3(BRCA1):c.3091A>G (p.Ile1031Val) http://identifiers.org/clinvar/188556 ^@ NM_000256.3(MYBPC3):c.1719T>A (p.Val573=) http://identifiers.org/clinvar/188656 ^@ NM_004572.3(PKP2):c.804C>T (p.Val268=) http://identifiers.org/clinvar/188606 ^@ NM_000257.3(MYH7):c.936C>T (p.Phe312=) http://identifiers.org/clinvar/188706 ^@ NM_001018005.1(TPM1):c.773-26C>T http://identifiers.org/clinvar/188404 ^@ NM_007294.3(BRCA1):c.212+23T>A http://identifiers.org/clinvar/188756 ^@ NM_004004.5(GJB2):c.246C>G (p.Ile82Met) http://identifiers.org/clinvar/188806 ^@ NM_000152.4(GAA):c.784G>A (p.Glu262Lys) http://identifiers.org/clinvar/189737 ^@ NM_004992.3(MECP2):c.943_1140del198ins6 http://identifiers.org/clinvar/189687 ^@ NM_004992.3:c.(?_27)_(1170_?)del http://identifiers.org/clinvar/189792 ^@ NM_183059.2(RD3):c.112C>T (p.Arg38Ter) http://identifiers.org/clinvar/189921 ^@ NM_001165963.1(SCN1A):c.4933C>T (p.Arg1645Ter) http://identifiers.org/clinvar/189971 ^@ NM_001165963.1(SCN1A):c.2479T>G (p.Tyr827Asp) http://identifiers.org/clinvar/190021 ^@ NM_001165963.1(SCN1A):c.826A>C (p.Lys276Gln) http://identifiers.org/clinvar/189871 ^@ NM_001165963.1(SCN1A):c.675G>C (p.Lys225Asn) http://identifiers.org/clinvar/190206 ^@ NM_000380.3(XPA):c.-4A>G http://identifiers.org/clinvar/190156 ^@ NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) http://identifiers.org/clinvar/190262 ^@ NM_001008781.2(FAT3):c.6916G>A (p.Val2306Ile) http://identifiers.org/clinvar/190340 ^@ NM_002055.4(GFAP):c.278A>C (p.Gln93Pro) http://identifiers.org/clinvar/190400 ^@ NM_007375.3(TARDBP):c.1153T>G (p.Trp385Gly) http://identifiers.org/clinvar/227332 ^@ NM_014908.3(DOLK):c.1286A>G (p.Lys429Arg) http://identifiers.org/clinvar/227231 ^@ NM_022124.5(CDH23):c.5988C>T (p.Ala1996=) http://identifiers.org/clinvar/226880 ^@ NM_001277269.1(OTOG):c.3270C>A (p.Thr1090=) http://identifiers.org/clinvar/227532 ^@ NM_001145308.4(LRTOMT):c.117A>G (p.Ala39=) http://identifiers.org/clinvar/226980 ^@ NM_012226.4(P2RX2):c.1109_1119delCTGCCCCTTCT (p.Ser370Terfs) http://identifiers.org/clinvar/228423 ^@ NM_020297.3(ABCC9):c.2199-13G>A http://identifiers.org/clinvar/226730 ^@ NM_198080.3(MSRB3):c.10C>A (p.Arg4=) http://identifiers.org/clinvar/226930 ^@ NM_173591.3(OTOGL):c.1948G>A (p.Val650Ile) http://identifiers.org/clinvar/228323 ^@ NM_000059.3(BRCA2):c.1832C>G (p.Ser611Ter) http://identifiers.org/clinvar/228523 ^@ NM_004086.2(COCH):c.1348A>G (p.Ile450Val) http://identifiers.org/clinvar/228673 ^@ NM_004452.3(ESRRB):c.1442C>A (p.Thr481Asn) http://identifiers.org/clinvar/228273 ^@ NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) http://identifiers.org/clinvar/226680 ^@ NM_001130089.1(KARS):c.159A>G (p.Arg53=) http://identifiers.org/clinvar/226780 ^@ NM_016239.3(MYO15A):c.2238G>T (p.Arg746Ser) http://identifiers.org/clinvar/228373 ^@ NM_016239.3(MYO15A):c.5896C>T (p.Arg1966Ter) http://identifiers.org/clinvar/228973 ^@ NM_016239.3(MYO15A):c.9620G>A (p.Arg3207His) http://identifiers.org/clinvar/229023 ^@ NM_003803.3(MYOM1):c.4351C>G (p.Leu1451Val) http://identifiers.org/clinvar/228623 ^@ NM_004949.4(DSC2):c.2174C>T (p.Pro725Leu) http://identifiers.org/clinvar/226830 ^@ NM_003803.3(MYOM1):c.541T>C (p.Ser181Pro) http://identifiers.org/clinvar/228823 ^@ NM_144612.6(LOXHD1):c.3166G>A (p.Glu1056Lys) http://identifiers.org/clinvar/227382 ^@ NM_133261.2(GIPC3):c.702A>G (p.Glu234=) http://identifiers.org/clinvar/228873 ^@ NM_001145809.1(MYH14):c.2667C>G (p.His889Gln) http://identifiers.org/clinvar/228923 ^@ NM_002473.5(MYH9):c.1380T>C (p.Asp460=) http://identifiers.org/clinvar/227081 ^@ NM_006941.3(SOX10):c.927T>C (p.His309=) http://identifiers.org/clinvar/227131 ^@ NM_144991.2(TSPEAR):c.1644C>T (p.Tyr548=) http://identifiers.org/clinvar/227181 ^@ NM_001692.3(ATP6V1B1):c.368-6C>T http://identifiers.org/clinvar/227482 ^@ NM_002290.4(LAMA4):c.976G>A (p.Ala326Thr) http://identifiers.org/clinvar/234261 ^@ NM_018136.4(ASPM):c.9337delG (p.Ala3113Glnfs) http://identifiers.org/clinvar/232754 ^@ NM_002485.4(NBN):c.955A>G (p.Thr319Ala) http://identifiers.org/clinvar/232854 ^@ NM_001128425.1(MUTYH):c.875C>A (p.Pro292Gln) http://identifiers.org/clinvar/234207 ^@ NM_000465.3(BARD1):c.2054A>G (p.His685Arg) http://identifiers.org/clinvar/232503 ^@ NM_000465.3(BARD1):c.1967G>T (p.Gly656Val) http://identifiers.org/clinvar/233704 ^@ NM_000465.3(BARD1):c.976A>T (p.Asn326Tyr) http://identifiers.org/clinvar/233154 ^@ NM_000465.3(BARD1):c.594T>G (p.Ala198=) http://identifiers.org/clinvar/233504 ^@ NM_000251.2(MSH2):c.2641G>C (p.Glu881Gln) http://identifiers.org/clinvar/232954 ^@ NM_000179.2(MSH6):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/263939 ^@ NM_000138.4(FBN1):c.492T>C (p.Asn164=) http://identifiers.org/clinvar/265576 ^@ NM_000038.5(APC):c.6101_6102delCT (p.Ser2034Terfs) http://identifiers.org/clinvar/265626 ^@ NM_000264.3(PTCH1):c.3044_3071del28 (p.Phe1015Serfs) http://identifiers.org/clinvar/265275 ^@ NM_000546.5(TP53):c.-48G>A http://identifiers.org/clinvar/265676 ^@ NM_033517.1(SHANK3):c.2695delG (p.Ala899Argfs) http://identifiers.org/clinvar/265222 ^@ NM_000425.4(L1CAM):c.523+12C>T http://identifiers.org/clinvar/265761 ^@ NM_021815.4(SLC5A7):c.194G>A (p.Gly65Glu) http://identifiers.org/clinvar/265865 ^@ NM_001235.3(SERPINH1):c.710T>C (p.Met237Thr) http://identifiers.org/clinvar/265915 ^@ NM_174936.3(PCSK9):c.-8T>C http://identifiers.org/clinvar/265969 ^@ NM_003611.2(OFD1):c.422T>G (p.Met141Arg) http://identifiers.org/clinvar/266021 ^@ NM_019023.2(PRMT7):c.1480T>C (p.Trp494Arg) http://identifiers.org/clinvar/266097 ^@ NM_025114.3(CEP290):c.4811G>A (p.Trp1604Ter) http://identifiers.org/clinvar/266647 ^@ NM_000059.3(BRCA2):c.1594_1595delGA (p.Glu532Asnfs) http://identifiers.org/clinvar/266697 ^@ NM_000059.3(BRCA2):c.2421dupT (p.Glu808Terfs) http://identifiers.org/clinvar/266747 ^@ NM_000059.3(BRCA2):c.3337_3338delGA (p.Glu1113Thrfs) http://identifiers.org/clinvar/266797 ^@ NM_000059.3(BRCA2):c.4229_4230insA (p.Ala1411Cysfs) http://identifiers.org/clinvar/266847 ^@ NM_000059.3(BRCA2):c.5110delA (p.Arg1704Glufs) http://identifiers.org/clinvar/266897 ^@ NM_000059.3(BRCA2):c.5811_5812delTG (p.Gly1938Ilefs) http://identifiers.org/clinvar/266947 ^@ NM_000059.3(BRCA2):c.6428C>G (p.Ser2143Ter) http://identifiers.org/clinvar/266997 ^@ NM_000059.3(BRCA2):c.7283T>A (p.Leu2428Ter) http://identifiers.org/clinvar/267047 ^@ NM_000059.3(BRCA2):c.7987delG (p.Glu2663Lysfs) http://identifiers.org/clinvar/267097 ^@ NM_000059.3(BRCA2):c.8562delT (p.Tyr2854Terfs) http://identifiers.org/clinvar/266547 ^@ NM_007294.3(BRCA1):c.5341_5343delGAAinsTG (p.Glu1781Cysfs) http://identifiers.org/clinvar/266397 ^@ NM_007294.3(BRCA1):c.3651dupT (p.Ser1218Terfs) http://identifiers.org/clinvar/266347 ^@ NM_007294.3(BRCA1):c.3258delA (p.Val1088Phefs) http://identifiers.org/clinvar/266297 ^@ NM_007294.3(BRCA1):c.2710delG (p.Glu904Asnfs) http://identifiers.org/clinvar/266247 ^@ NM_007294.3(BRCA1):c.2311_2312insC (p.Leu771Serfs) http://identifiers.org/clinvar/266197 ^@ NM_007294.3(BRCA1):c.1887_1900dupAAATCTAAGCCCAC (p.Pro634Glnfs) http://identifiers.org/clinvar/266147 ^@ NM_007294.3(BRCA1):c.1227_1230dupAGCT (p.Asp411Serfs) http://identifiers.org/clinvar/266597 ^@ NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter) http://identifiers.org/clinvar/266497 ^@ NM_007294.3(BRCA1):c.485_486dupTG (p.Arg163Terfs) http://identifiers.org/clinvar/266447 ^@ NM_007294.3(BRCA1):c.411delT (p.Leu138Tyrfs) http://identifiers.org/clinvar/267873 ^@ 46;XX;t(7;16)(p15.2;q22)dn http://identifiers.org/clinvar/267923 ^@ 46;XX;t(10;15)(q25.2;q11.2) http://identifiers.org/clinvar/267973 ^@ 46;X;inv(X)(q22.3q26) http://identifiers.org/clinvar/268023 ^@ 46;X;t(X;21)(q26.1;q21.22)dn http://identifiers.org/clinvar/268080 ^@ NM_001193376.1(TERT):c.887A>C (p.His296Pro) http://identifiers.org/clinvar/268140 ^@ NM_005506.3(SCARB2):c.704+1G>C http://identifiers.org/clinvar/268211 ^@ NM_057175.4(NAA15):c.2322C>G (p.Tyr774Ter) http://identifiers.org/clinvar/290926 ^@ NM_033071.3(SYNE1):c.22697G>C (p.Ser7566Thr) http://identifiers.org/clinvar/290976 ^@ NM_001165927.1(MKS1):c.301A>C (p.Ile101Leu) http://identifiers.org/clinvar/291026 ^@ NM_000319.4(PEX5):c.693C>T (p.Ser231=) http://identifiers.org/clinvar/291076 ^@ NM_001271208.1(NEB):c.6415C>G (p.His2139Asp) http://identifiers.org/clinvar/291126 ^@ NM_000070.2(CAPN3):c.721A>G (p.Ile241Val) http://identifiers.org/clinvar/291177 ^@ NM_000033.3(ABCD1):c.901-10C>T http://identifiers.org/clinvar/291227 ^@ NM_000070.2(CAPN3):c.478G>C (p.Ala160Pro) http://identifiers.org/clinvar/291277 ^@ NM_015102.4(NPHP4):c.2849G>A (p.Arg950Gln) http://identifiers.org/clinvar/291392 ^@ NM_001918.3(DBT):c.*6903T>A http://identifiers.org/clinvar/291442 ^@ NM_001918.3(DBT):c.*722C>T http://identifiers.org/clinvar/291492 ^@ NM_001854.3(COL11A1):c.5003C>T (p.Pro1668Leu) http://identifiers.org/clinvar/291734 ^@ NM_007375.3(TARDBP):c.198T>C (p.Ala66=) http://identifiers.org/clinvar/291784 ^@ NM_006610.3(MASP2):c.1142C>T (p.Thr381Ile) http://identifiers.org/clinvar/291884 ^@ NM_013319.2(UBIAD1):c.*819G>A http://identifiers.org/clinvar/291634 ^@ NM_015074.3(KIF1B):c.*2869C>T http://identifiers.org/clinvar/291984 ^@ NM_000549.4(TSHB):c.-13A>G http://identifiers.org/clinvar/292034 ^@ NM_138959.2(VANGL1):c.*1183delA http://identifiers.org/clinvar/291684 ^@ NM_004565.2(PEX14):c.*400G>T http://identifiers.org/clinvar/291834 ^@ NM_003051.3(SLC16A1):c.*1085dupT http://identifiers.org/clinvar/292134 ^@ NM_001232.3(CASQ2):c.-137T>C http://identifiers.org/clinvar/292184 ^@ NM_005957.4(MTHFR):c.*2835G>T http://identifiers.org/clinvar/292284 ^@ NM_000302.3(PLOD1):c.556A>G (p.Ile186Val) http://identifiers.org/clinvar/292334 ^@ NM_005518.3(HMGCS2):c.858C>T (p.Ser286=) http://identifiers.org/clinvar/291934 ^@ NM_000036.2(AMPD1):c.481-6dupT http://identifiers.org/clinvar/292084 ^@ NM_138959.2(VANGL1):c.*5266C>T http://identifiers.org/clinvar/292234 ^@ NM_005957.4(MTHFR):c.1649A>G (p.Asn550Ser) http://identifiers.org/clinvar/292784 ^@ NM_001111.4(ADAR):c.739G>A (p.Ala247Thr) http://identifiers.org/clinvar/345464 ^@ NM_024513.3(FYCO1):c.*1809_*1811delATC http://identifiers.org/clinvar/345714 ^@ NM_002222.5(ITPR1):c.2388T>A (p.Ile796=) http://identifiers.org/clinvar/345614 ^@ NM_015175.2(NBEAL2):c.384C>G (p.Gly128=) http://identifiers.org/clinvar/345664 ^@ NM_015175.2(NBEAL2):c.4306-15C>G http://identifiers.org/clinvar/345814 ^@ NM_000094.3(COL7A1):c.7048C>T (p.Pro2350Ser) http://identifiers.org/clinvar/346114 ^@ NM_004656.3(BAP1):c.*45C>G http://identifiers.org/clinvar/346364 ^@ NM_001457.3(FLNB):c.7120C>T (p.Arg2374Cys) http://identifiers.org/clinvar/346414 ^@ NM_198859.3(PRICKLE2):c.*4861dupT http://identifiers.org/clinvar/346514 ^@ NM_000248.3(MITF):c.*556T>C http://identifiers.org/clinvar/346614 ^@ NM_032682.5(FOXP1):c.*1049_*1050dupTT http://identifiers.org/clinvar/342265 ^@ NM_033084.4(FANCD2):c.1265C>G (p.Ser422Cys) http://identifiers.org/clinvar/346714 ^@ NM_002942.4(ROBO2):c.4056C>T (p.Gly1352=) http://identifiers.org/clinvar/345914 ^@ NM_002222.5(ITPR1):c.*1156A>C http://identifiers.org/clinvar/347214 ^@ NM_198506.4(LRIT3):c.*1271T>C http://identifiers.org/clinvar/346014 ^@ NM_002292.3(LAMB2):c.101C>A (p.Ala34Asp) http://identifiers.org/clinvar/346164 ^@ NM_052859.3(RFT1):c.*1693G>T http://identifiers.org/clinvar/346314 ^@ NM_001457.3(FLNB):c.1688T>C (p.Ile563Thr) http://identifiers.org/clinvar/346464 ^@ NM_198859.3(PRICKLE2):c.*584delA http://identifiers.org/clinvar/348153 ^@ NM_000320.2(QDPR):c.*11_*12delAG http://identifiers.org/clinvar/346764 ^@ NM_002942.4(ROBO2):c.*3276T>C http://identifiers.org/clinvar/346814 ^@ NM_014043.3(CHMP2B):c.*864G>A http://identifiers.org/clinvar/361869 ^@ NM_004519.3(KCNQ3):c.*426C>G http://identifiers.org/clinvar/358220 ^@ NM_006416.4(SLC35A1):c.*294dupA http://identifiers.org/clinvar/358370 ^@ NM_005045.3(RELN):c.*151T>C http://identifiers.org/clinvar/362169 ^@ NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) http://identifiers.org/clinvar/358470 ^@ NM_006348.3(COG5):c.762+10A>G http://identifiers.org/clinvar/358520 ^@ NM_000441.1(SLC26A4):c.*1517G>C http://identifiers.org/clinvar/358770 ^@ NM_012338.3(TSPAN12):c.-251dupT http://identifiers.org/clinvar/358870 ^@ NM_000883.3(IMPDH1):c.*105T>A http://identifiers.org/clinvar/359170 ^@ NM_014141.5(CNTNAP2):c.-135G>A http://identifiers.org/clinvar/363058 ^@ NM_006749.4(SLC20A2):c.*409A>G http://identifiers.org/clinvar/363158 ^@ NM_152419.2(HGSNAT):c.*585T>C http://identifiers.org/clinvar/359420 ^@ NM_022458.3(LMBR1):c.*15G>A http://identifiers.org/clinvar/359470 ^@ NM_058246.3(DNAJB6):c.*610C>T http://identifiers.org/clinvar/359520 ^@ NM_001101426.3(ISPD):c.*2404G>A http://identifiers.org/clinvar/363908 ^@ NM_002485.4(NBN):c.*419C>T http://identifiers.org/clinvar/364008 ^@ NM_001001557.3(GDF6):c.*2170A>C http://identifiers.org/clinvar/361059 ^@ NM_017890.4(VPS13B):c.3813A>G (p.Thr1271=) http://identifiers.org/clinvar/364258 ^@ NM_001701.3(BAAT):c.*1175_*1176delTA http://identifiers.org/clinvar/364358 ^@ NM_005502.3(ABCA1):c.*1211G>A http://identifiers.org/clinvar/356331 ^@ NM_006929.4(SKIV2L):c.2052C>T (p.His684=) http://identifiers.org/clinvar/356431 ^@ NM_001014.4(RPS10):c.-37C>T http://identifiers.org/clinvar/356631 ^@ NM_005943.5(MOCS1):c.*1245C>T http://identifiers.org/clinvar/356731 ^@ NM_002098.5(GUCA1B):c.*179A>T http://identifiers.org/clinvar/356531 ^@ NM_182548.3(LHFPL5):c.*508_*512delACACAinsTCTCTCTCTCT http://identifiers.org/clinvar/361359 ^@ NM_178857.5(RP1L1):c.2061G>C (p.Pro687=) http://identifiers.org/clinvar/356881 ^@ NM_203290.3(POLR1C):c.913C>A (p.His305Asn) http://identifiers.org/clinvar/356681 ^@ NM_018965.3(TREM2):c.40+13C>T http://identifiers.org/clinvar/365747 ^@ NM_000093.4(COL5A1):c.*269C>T http://identifiers.org/clinvar/356981 ^@ NM_006502.2(POLH):c.*3670C>T http://identifiers.org/clinvar/356831 ^@ NM_014780.4(CUL7):c.3096C>T (p.Asp1032=) http://identifiers.org/clinvar/361719 ^@ NM_014846.3(WASHC5):c.2052T>G (p.Thr684=) http://identifiers.org/clinvar/366148 ^@ NM_144966.5(FREM1):c.2277T>C (p.Gly759=) http://identifiers.org/clinvar/357181 ^@ NM_012120.2(CD2AP):c.*186A>T http://identifiers.org/clinvar/357231 ^@ NM_012120.2(CD2AP):c.*2445C>T http://identifiers.org/clinvar/366248 ^@ NM_002451.3(MTAP):c.691-13A>G http://identifiers.org/clinvar/311148 ^@ NM_001846.3(COL4A2):c.2444G>C (p.Gly815Ala) http://identifiers.org/clinvar/311198 ^@ NM_001846.3(COL4A2):c.5111G>T (p.Arg1704Leu) http://identifiers.org/clinvar/303300 ^@ NM_152722.4(HEPACAM):c.*943G>A http://identifiers.org/clinvar/366798 ^@ NM_005476.5(GNE):c.*2766T>C http://identifiers.org/clinvar/303350 ^@ NM_145014.2(HYLS1):c.-120dupT http://identifiers.org/clinvar/311548 ^@ NM_014363.5(SACS):c.3557T>C (p.Met1186Thr) http://identifiers.org/clinvar/311748 ^@ NM_015087.4(SPG20):c.*1550A>G http://identifiers.org/clinvar/311798 ^@ NM_000538.3(RFXAP):c.*818A>G http://identifiers.org/clinvar/367687 ^@ NM_000197.1(HSD17B3):c.-10G>C http://identifiers.org/clinvar/312048 ^@ NM_207361.5(FREM2):c.*1061A>G http://identifiers.org/clinvar/312098 ^@ NM_207361.5(FREM2):c.*5335A>G http://identifiers.org/clinvar/364108 ^@ NM_004612.3(TGFBR1):c.*566T>C http://identifiers.org/clinvar/364158 ^@ NM_004612.3(TGFBR1):c.*2980G>T http://identifiers.org/clinvar/304739 ^@ NM_018389.4(SLC35C1):c.522C>T (p.Cys174=) http://identifiers.org/clinvar/313587 ^@ NM_182914.2(SYNE2):c.13524G>C (p.Leu4508=) http://identifiers.org/clinvar/305039 ^@ NM_005142.2(GIF):c.371-15C>T http://identifiers.org/clinvar/313887 ^@ NM_015346.3(ZFYVE26):c.5484+13G>A http://identifiers.org/clinvar/313937 ^@ NM_015346.3(ZFYVE26):c.-70A>T http://identifiers.org/clinvar/313987 ^@ NM_000021.3(PSEN1):c.*2659A>T http://identifiers.org/clinvar/305191 ^@ NM_032667.6(BSCL2):c.-194G>T http://identifiers.org/clinvar/305341 ^@ NM_032193.3(RNASEH2C):c.*862A>C http://identifiers.org/clinvar/299761 ^@ NM_014915.2(ANKRD26):c.332A>G (p.Asn111Ser) http://identifiers.org/clinvar/299811 ^@ NM_021252.4(RAB18):c.-79T>A http://identifiers.org/clinvar/314387 ^@ NM_001040108.1(MLH3):c.1560G>T (p.Glu520Asp) http://identifiers.org/clinvar/314737 ^@ NM_000153.3(GALC):c.*709A>C http://identifiers.org/clinvar/300161 ^@ NM_033056.3(PCDH15):c.*147_*150dupGATA http://identifiers.org/clinvar/300211 ^@ NM_000417.2(IL2RA):c.*2108T>G http://identifiers.org/clinvar/299711 ^@ NM_014915.2(ANKRD26):c.*1212G>A http://identifiers.org/clinvar/314937 ^@ NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) http://identifiers.org/clinvar/300261 ^@ NM_000417.2(IL2RA):c.84G>A (p.Pro28=) http://identifiers.org/clinvar/300311 ^@ NM_018055.4(NODAL):c.203T>C (p.Val68Ala) http://identifiers.org/clinvar/299861 ^@ NM_021252.4(RAB18):c.*2862T>C http://identifiers.org/clinvar/300511 ^@ NM_002778.3(PSAP):c.1278C>T (p.Asn426=) http://identifiers.org/clinvar/299911 ^@ NM_020975.4(RET):c.*499dupG http://identifiers.org/clinvar/315576 ^@ NM_133647.1(SLC12A6):c.*2289_*2291delGAA http://identifiers.org/clinvar/300611 ^@ NM_004273.4(CHST3):c.*1426T>C http://identifiers.org/clinvar/299961 ^@ NM_002900.2(RBP3):c.2616G>A (p.Thr872=) http://identifiers.org/clinvar/300061 ^@ NM_000124.3(ERCC6):c.2696C>T (p.Thr899Met) http://identifiers.org/clinvar/300111 ^@ NM_000242.2(MBL2):c.*2067C>T http://identifiers.org/clinvar/300711 ^@ NM_016065.3(MRPS16):c.*472C>T http://identifiers.org/clinvar/315876 ^@ NM_016013.3(NDUFAF1):c.643G>A (p.Asp215Asn) http://identifiers.org/clinvar/300861 ^@ NM_012330.3(KAT6B):c.1268C>G (p.Ser423Cys) http://identifiers.org/clinvar/329149 ^@ NM_033064.4(ATCAY):c.678G>A (p.Val226=) http://identifiers.org/clinvar/329249 ^@ NM_181882.2(PRX):c.4109G>A (p.Arg1370His) http://identifiers.org/clinvar/311098 ^@ NM_001846.3(COL4A2):c.316-5C>G http://identifiers.org/clinvar/309854 ^@ NM_001029.3(RPS26):c.-33C>T http://identifiers.org/clinvar/311348 ^@ NM_021954.3(GJA3):c.231C>T (p.Phe77=) http://identifiers.org/clinvar/311448 ^@ NM_002010.2(FGF9):c.*566T>A http://identifiers.org/clinvar/329799 ^@ NM_002103.4(GYS1):c.*450G>A http://identifiers.org/clinvar/318318 ^@ NM_000548.4(TSC2):c.2047T>G (p.Ser683Ala) http://identifiers.org/clinvar/311698 ^@ NM_004795.3(KL):c.1767C>T (p.His589=) http://identifiers.org/clinvar/318418 ^@ NM_000336.2(SCNN1B):c.159C>T (p.Phe53=) http://identifiers.org/clinvar/311998 ^@ NM_207361.5(FREM2):c.5722G>A (p.Gly1908Arg) http://identifiers.org/clinvar/318818 ^@ NM_001770.5(CD19):c.*151_*152dupGT http://identifiers.org/clinvar/337935 ^@ NM_198994.2(TGM6):c.1678+11G>T http://identifiers.org/clinvar/310848 ^@ NM_000282.3(PCCA):c.2037C>T (p.Asp679=) http://identifiers.org/clinvar/338035 ^@ NM_032609.2(COX4I2):c.345C>T (p.Phe115=) http://identifiers.org/clinvar/338335 ^@ NM_015474.3(SAMHD1):c.*240G>A http://identifiers.org/clinvar/311498 ^@ NM_014363.5(SACS):c.13282T>G (p.Tyr4428Asp) http://identifiers.org/clinvar/311598 ^@ NM_018451.4(CENPJ):c.*398A>G http://identifiers.org/clinvar/313087 ^@ NM_021914.7(CFL2):c.*995T>C http://identifiers.org/clinvar/311648 ^@ NM_015972.3(POLR1D):c.27-8G>A http://identifiers.org/clinvar/338886 ^@ NM_002591.3(PCK1):c.925G>A (p.Gly309Arg) http://identifiers.org/clinvar/311898 ^@ NM_001127217.2(SMAD9):c.1011C>G (p.His337Gln) http://identifiers.org/clinvar/311948 ^@ NM_207361.5(FREM2):c.1518C>T (p.Ser506=) http://identifiers.org/clinvar/313537 ^@ NM_182914.2(SYNE2):c.8691G>C (p.Glu2897Asp) http://identifiers.org/clinvar/313637 ^@ NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) http://identifiers.org/clinvar/339875 ^@ NM_001754.4(RUNX1):c.1355T>G (p.Val452Gly) http://identifiers.org/clinvar/321368 ^@ NM_000135.2(FANCA):c.590T>C (p.Leu197Pro) http://identifiers.org/clinvar/321418 ^@ NM_002386.3(MC1R):c.101G>A (p.Arg34Gln) http://identifiers.org/clinvar/339925 ^@ NM_000411.6(HLCS):c.*2267G>T http://identifiers.org/clinvar/321518 ^@ NM_000833.4(GRIN2A):c.*5942G>A http://identifiers.org/clinvar/314137 ^@ NM_031427.3(DNAL1):c.*6487C>T http://identifiers.org/clinvar/340275 ^@ NM_130445.3(COL18A1):c.*30G>A http://identifiers.org/clinvar/321722 ^@ NM_002470.3(MYH3):c.4925A>G (p.Lys1642Arg) http://identifiers.org/clinvar/367737 ^@ NM_002294.2(LAMP2):c.*5038A>G http://identifiers.org/clinvar/328549 ^@ NM_000453.2(SLC5A5):c.*239delC http://identifiers.org/clinvar/328599 ^@ NM_005535.2(IL12RB1):c.387G>C (p.Val129=) http://identifiers.org/clinvar/367887 ^@ NM_002351.4(SH2D1A):c.*1755G>A http://identifiers.org/clinvar/367937 ^@ NM_004840.2(ARHGEF6):c.*158A>G http://identifiers.org/clinvar/328699 ^@ NM_001031726.3(C19orf12):c.*1453C>T http://identifiers.org/clinvar/327110 ^@ NM_005359.5(SMAD4):c.249+10A>C http://identifiers.org/clinvar/328849 ^@ NM_004646.3(NPHS1):c.*529C>T http://identifiers.org/clinvar/328949 ^@ NM_032753.3(RAX2):c.*972T>A http://identifiers.org/clinvar/327260 ^@ NM_001083962.1(TCF4):c.*3349C>A http://identifiers.org/clinvar/327460 ^@ NM_005603.4(ATP8B1):c.*440C>T http://identifiers.org/clinvar/329399 ^@ NM_152296.4(ATP1A3):c.*106T>C http://identifiers.org/clinvar/329449 ^@ NM_014297.4(ETHE1):c.-58G>T http://identifiers.org/clinvar/327710 ^@ NM_133459.3(CCBE1):c.123C>A (p.Asp41Glu) http://identifiers.org/clinvar/329649 ^@ NM_025136.3(OPA3):c.*1855T>C http://identifiers.org/clinvar/329699 ^@ NM_000554.5(CRX):c.857T>C (p.Leu286Pro) http://identifiers.org/clinvar/329849 ^@ NM_017636.3(TRPM4):c.748C>T (p.Arg250Cys) http://identifiers.org/clinvar/328649 ^@ NM_003721.3(RFXANK):c.765G>A (p.Val255=) http://identifiers.org/clinvar/328749 ^@ NM_014270.4(SLC7A9):c.1059C>T (p.Pro353=) http://identifiers.org/clinvar/337785 ^@ NM_006363.4(SEC23B):c.-76G>C http://identifiers.org/clinvar/328999 ^@ NM_000540.2(RYR1):c.2711C>T (p.Pro904Leu) http://identifiers.org/clinvar/338085 ^@ NM_015338.5(ASXL1):c.1268A>G (p.Asn423Ser) http://identifiers.org/clinvar/329199 ^@ NM_033064.4(ATCAY):c.*2996G>A http://identifiers.org/clinvar/329299 ^@ NM_003573.2(LTBP4):c.194G>A (p.Arg65Lys) http://identifiers.org/clinvar/338385 ^@ NM_005461.4(MAFB):c.*1433A>G http://identifiers.org/clinvar/329499 ^@ NM_000400.3(ERCC2):c.*119C>G http://identifiers.org/clinvar/329549 ^@ NM_206900.2(RTN2):c.949G>A (p.Gly317Ser) http://identifiers.org/clinvar/338685 ^@ NM_006420.2(ARFGEF2):c.1182A>G (p.Pro394=) http://identifiers.org/clinvar/329899 ^@ NM_024729.3(MYH14):c.-37C>T http://identifiers.org/clinvar/339725 ^@ NM_000219.5(KCNE1):c.*2329C>A http://identifiers.org/clinvar/337835 ^@ NM_024411.4(PDYN):c.575A>T (p.Glu192Val) http://identifiers.org/clinvar/337885 ^@ NM_000361.2(THBD):c.1092G>A (p.Glu364=) http://identifiers.org/clinvar/340125 ^@ NM_000100.3(CSTB):c.-55G>A http://identifiers.org/clinvar/340175 ^@ NM_000211.4(ITGB2):c.328+14C>T http://identifiers.org/clinvar/338235 ^@ NM_032034.3(SLC4A11):c.2413G>A (p.Val805Met) http://identifiers.org/clinvar/338135 ^@ NM_015338.5(ASXL1):c.*1178G>A http://identifiers.org/clinvar/338185 ^@ NM_006892.3(DNMT3B):c.*55G>T http://identifiers.org/clinvar/340375 ^@ NM_001849.3(COL6A2):c.2331C>T (p.Cys777=) http://identifiers.org/clinvar/340475 ^@ NM_006031.5(PCNT):c.2075T>C (p.Ile692Thr) http://identifiers.org/clinvar/338485 ^@ NM_000457.4(HNF4A):c.*2707dupT http://identifiers.org/clinvar/338585 ^@ NM_001250.5(CD40):c.*547A>T http://identifiers.org/clinvar/338635 ^@ NM_030777.3(SLC2A10):c.*2316C>T http://identifiers.org/clinvar/340776 ^@ NM_017929.5(PEX26):c.*943G>A http://identifiers.org/clinvar/338735 ^@ NM_006420.2(ARFGEF2):c.*2451A>C http://identifiers.org/clinvar/338836 ^@ NM_000782.4(CYP24A1):c.217A>T (p.Ile73Phe) http://identifiers.org/clinvar/339625 ^@ NM_000484.3(APP):c.*194A>C http://identifiers.org/clinvar/339825 ^@ NM_001754.4(RUNX1):c.*2626A>G http://identifiers.org/clinvar/385438 ^@ NM_000051.3(ATM):c.1802+16T>C http://identifiers.org/clinvar/385338 ^@ NM_000535.6(PMS2):c.-24C>G http://identifiers.org/clinvar/388127 ^@ NM_020987.4(ANK3):c.10164C>G (p.Asn3388Lys) http://identifiers.org/clinvar/383135 ^@ NM_001083116.1(PRF1):c.443C>G (p.Ala148Gly) http://identifiers.org/clinvar/378332 ^@ NM_000920.3(PC):c.2223+19C>T http://identifiers.org/clinvar/384988 ^@ NM_030813.5(CLPB):c.866-10C>G http://identifiers.org/clinvar/393055 ^@ NM_003923.2(FOXH1):c.14G>A (p.Ser5Asn) http://identifiers.org/clinvar/378082 ^@ NM_007078.2(LDB3):c.1386C>T (p.Thr462=) http://identifiers.org/clinvar/378537 ^@ NM_174934.3(SCN4B):c.480C>T (p.Asn160=) http://identifiers.org/clinvar/389366 ^@ NM_001278503.1(STT3A):c.1752C>G (p.Gly584=) http://identifiers.org/clinvar/382445 ^@ NM_006231.3(POLE):c.405C>T (p.Pro135=) http://identifiers.org/clinvar/385138 ^@ NM_004408.3(DNM1):c.1707C>T (p.Asn569=) http://identifiers.org/clinvar/387127 ^@ NM_001931.4(DLAT):c.1678-12T>C http://identifiers.org/clinvar/387177 ^@ NM_004572.3(PKP2):c.1035-9T>C http://identifiers.org/clinvar/390066 ^@ NM_000050.4(ASS1):c.-30C>T http://identifiers.org/clinvar/389516 ^@ NM_032273.3(TMEM126A):c.87-19T>C http://identifiers.org/clinvar/383286 ^@ NM_213595.3(ISCU):c.228+11T>C http://identifiers.org/clinvar/383085 ^@ NM_020822.2(KCNT1):c.2691G>A (p.Ala897=) http://identifiers.org/clinvar/382345 ^@ NM_015531.5(C2CD3):c.4600A>G (p.Ser1534Gly) http://identifiers.org/clinvar/377580 ^@ NM_000059.3(BRCA2):c.3372G>A (p.Gln1124=) http://identifiers.org/clinvar/389866 ^@ NM_006231.3(POLE):c.2561+16G>A http://identifiers.org/clinvar/387777 ^@ NM_006231.3(POLE):c.1464G>A (p.Glu488=) http://identifiers.org/clinvar/392805 ^@ NM_017617.4(NOTCH1):c.1278G>A (p.Ala426=) http://identifiers.org/clinvar/385538 ^@ NM_000719.6(CACNA1C):c.4944G>A (p.Ala1648=) http://identifiers.org/clinvar/393205 ^@ NM_000257.3(MYH7):c.444C>G (p.Ser148Arg) http://identifiers.org/clinvar/386727 ^@ NM_014191.3(SCN8A):c.435C>T (p.Asn145=) http://identifiers.org/clinvar/389816 ^@ NM_004572.3(PKP2):c.978A>T (p.Ala326=) http://identifiers.org/clinvar/393005 ^@ NM_130468.3(CHST14):c.310G>A (p.Val104Met) http://identifiers.org/clinvar/385588 ^@ NM_000282.3(PCCA):c.828T>C (p.Gly276=) http://identifiers.org/clinvar/383336 ^@ NM_002693.2(POLG):c.3480C>T (p.Thr1160=) http://identifiers.org/clinvar/392405 ^@ NM_024741.2(ZNF408):c.740A>G (p.Lys247Arg) http://identifiers.org/clinvar/392455 ^@ NM_173201.3(ATP2A1):c.1370C>T (p.Thr457Met) http://identifiers.org/clinvar/377980 ^@ NM_213595.3(ISCU):c.229-5T>C http://identifiers.org/clinvar/378638 ^@ NM_025137.3(SPG11):c.7155T>G (p.Tyr2385Ter) http://identifiers.org/clinvar/385738 ^@ NM_002474.2(MYH11):c.1764G>C (p.Ala588=) http://identifiers.org/clinvar/389266 ^@ NM_006231.3(POLE):c.4581C>T (p.Gly1527=) http://identifiers.org/clinvar/390416 ^@ NM_003119.3(SPG7):c.1830C>T (p.Leu610=) http://identifiers.org/clinvar/388527 ^@ NM_000834.3(GRIN2B):c.3751C>T (p.Leu1251=) http://identifiers.org/clinvar/47553 ^@ NM_133379.4(TTN):c.*265+199328C>T http://identifiers.org/clinvar/47603 ^@ NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) http://identifiers.org/clinvar/47653 ^@ NM_133378.4(TTN):c.94934A>G (p.Asn31645Ser) http://identifiers.org/clinvar/47703 ^@ NM_133378.4(TTN):c.982C>T (p.Arg328Cys) http://identifiers.org/clinvar/47753 ^@ NM_001256850.1(TTN):c.10360+4088A>G http://identifiers.org/clinvar/21 ^@ NM_001006657.1(WDR35):c.1877A>G (p.Glu626Gly) http://identifiers.org/clinvar/183 ^@ NM_000274.3(OAT):c.596C>A (p.Pro199Gln) http://identifiers.org/clinvar/192 ^@ ATXN8, (CAG)n EXPANSION http://identifiers.org/clinvar/343 ^@ NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) http://identifiers.org/clinvar/417 ^@ RNASET2, 567G-A http://identifiers.org/clinvar/426 ^@ NM_178012.4(TUBB2B):c.514T>C (p.Ser172Pro) http://identifiers.org/clinvar/585 ^@ NG_008690.1:g.22736_29335delinsGGCACCTG http://identifiers.org/clinvar/594 ^@ NM_000277.1(PAH):c.442-1G>A http://identifiers.org/clinvar/807 ^@ NM_000038.5(APC):c.1660C>T (p.Arg554Ter) http://identifiers.org/clinvar/899 ^@ NM_000181.3(GUSB):c.1484A>G (p.Tyr495Cys) http://identifiers.org/clinvar/1277 ^@ NM_173660.4(DOK7):c.1143dupC (p.Glu382Argfs) http://identifiers.org/clinvar/1321 ^@ NM_001174089.1(SLC4A11):c.2213C>T (p.Thr738Met) http://identifiers.org/clinvar/1367 ^@ NM_153704.5(TMEM67):c.870-2A>G http://identifiers.org/clinvar/1412 ^@ NM_001041.3(SI):c.3293A>C (p.Gln1098Pro) http://identifiers.org/clinvar/1458 ^@ NM_000190.3(HMBS):c.163G>T (p.Ala55Ser) http://identifiers.org/clinvar/1502 ^@ NM_004035.6(ACOX1):c.442C>T (p.Arg148Ter) http://identifiers.org/clinvar/1549 ^@ LPL, -39T-C http://identifiers.org/clinvar/1594 ^@ NM_174889.4(NDUFAF2):c.139C>T (p.Arg47Ter) http://identifiers.org/clinvar/1643 ^@ NM_000382.2(ALDH3A2):c.798G>C (p.Lys266Asn) http://identifiers.org/clinvar/1689 ^@ NM_002108.3(HAL):c.617G>C (p.Arg206Thr) http://identifiers.org/clinvar/1734 ^@ NM_015634.3(KIF1BP):c.250G>T (p.Glu84Ter) http://identifiers.org/clinvar/1785 ^@ NM_000102.3(CYP17A1):c.286C>T (p.Arg96Trp) http://identifiers.org/clinvar/1875 ^@ NM_020376.3(PNPLA2):c.847delC (p.Gln283Lysfs) http://identifiers.org/clinvar/1965 ^@ NM_000022.3(ADA):c.320T>C (p.Leu107Pro) http://identifiers.org/clinvar/2009 ^@ NM_000231.2(SGCG):c.787G>A (p.Glu263Lys) http://identifiers.org/clinvar/2054 ^@ NM_152443.2(RDH12):c.451C>G (p.His151Asp) http://identifiers.org/clinvar/2145 ^@ NIPBL, 2-BP DEL, 2479AG http://identifiers.org/clinvar/2192 ^@ NM_207173.1(NPSR1):c.320A>T (p.Asn107Ile) http://identifiers.org/clinvar/2237 ^@ NM_000551.3(VHL):c.277G>A (p.Gly93Ser) http://identifiers.org/clinvar/2282 ^@ NM_014874.3(MFN2):c.1403G>A (p.Arg468His) http://identifiers.org/clinvar/2328 ^@ SYNE1, 5-BP DEL, NT334338 http://identifiers.org/clinvar/2373 ^@ NM_213653.3(HFE2):c.160A>T (p.Arg54Ter) http://identifiers.org/clinvar/2419 ^@ NM_001875.4(CPS1):c.1631C>T (p.Thr544Met) http://identifiers.org/clinvar/2464 ^@ NM_000026.3(ADSL):c.1264G>T (p.Asp422Tyr) http://identifiers.org/clinvar/3051 ^@ NM_000487.5(ARSA):c.465+1G>A http://identifiers.org/clinvar/3098 ^@ NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter) http://identifiers.org/clinvar/3151 ^@ NM_024747.5(HPS6):c.1713_1716delTCTG (p.Leu572Alafs) http://identifiers.org/clinvar/3198 ^@ SBDS, 1-BP INS, 96A http://identifiers.org/clinvar/3244 ^@ NM_007171.3(POMT1):c.193G>A (p.Gly65Arg) http://identifiers.org/clinvar/3291 ^@ NM_000268.3(NF2):c.958C>T (p.Gln320Ter) http://identifiers.org/clinvar/3336 ^@ NC_000002.12:g.(?_31524586)_(31580971_?)del http://identifiers.org/clinvar/11423 ^@ NM_022567.2(NYX):c.559_560delGCinsAA (p.Ala187Lys) http://identifiers.org/clinvar/12119 ^@ CFI, IVS5DS G-A, -1 http://identifiers.org/clinvar/12172 ^@ CYP21A2, GLU380ASP http://identifiers.org/clinvar/12224 ^@ NM_001025366.2(VEGFA):c.-2055A>C http://identifiers.org/clinvar/12275 ^@ UGT1A1*28 http://identifiers.org/clinvar/12327 ^@ NM_199292.2(TH):c.698G>A (p.Arg233His) http://identifiers.org/clinvar/12378 ^@ NM_000546.5(TP53):c.875A>T (p.Lys292Ile) http://identifiers.org/clinvar/12429 ^@ NM_000363.4(TNNI3):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/12480 ^@ NM_000359.2(TGM1):c.125C>A (p.Ser42Tyr) http://identifiers.org/clinvar/12631 ^@ ZEB1, 2-BP DEL, 2916TG http://identifiers.org/clinvar/12681 ^@ TRHR, 9-BP DEL AND ALA118THR http://identifiers.org/clinvar/12733 ^@ NM_198253.2(TERT):c.3268G>A (p.Val1090Met) http://identifiers.org/clinvar/12783 ^@ NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) http://identifiers.org/clinvar/12833 ^@ NM_001024858.2(SPTB):c.6135_6136dupGA (p.Lys2046Argfs) http://identifiers.org/clinvar/12884 ^@ NM_006920.4(SCN1A):c.563A>T (p.Asp188Val) http://identifiers.org/clinvar/12934 ^@ SLC6A4, 44-BP INS/DEL http://identifiers.org/clinvar/13035 ^@ NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) http://identifiers.org/clinvar/13087 ^@ NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) http://identifiers.org/clinvar/13137 ^@ NM_000536.3(RAG2):c.230C>A (p.Thr77Asn) http://identifiers.org/clinvar/13188 ^@ NM_000925.3(PDHB):c.395A>G (p.Tyr132Cys) http://identifiers.org/clinvar/13239 ^@ PRKCSH, IVS4DS, G-C, +1 http://identifiers.org/clinvar/13290 ^@ NM_000141.4(FGFR2):c.799T>C (p.Ser267Pro) http://identifiers.org/clinvar/13341 ^@ NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) http://identifiers.org/clinvar/13394 ^@ NM_000311.4(PRNP):c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4) (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) http://identifiers.org/clinvar/13446 ^@ NM_000371.3(TTR):c.262A>T (p.Ile88Leu) http://identifiers.org/clinvar/37725 ^@ NM_000059.3(BRCA2):c.1054dupT (p.Tyr352Leufs) http://identifiers.org/clinvar/37776 ^@ NM_000059.3(BRCA2):c.2175dupA (p.Val726Serfs) http://identifiers.org/clinvar/37829 ^@ NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) http://identifiers.org/clinvar/37882 ^@ NM_000059.3(BRCA2):c.413G>T (p.Cys138Phe) http://identifiers.org/clinvar/37935 ^@ NM_000059.3(BRCA2):c.4936_4939delGAAA (p.Glu1646Glnfs) http://identifiers.org/clinvar/37988 ^@ NM_000059.3(BRCA2):c.5681dupA (p.Tyr1894Terfs) http://identifiers.org/clinvar/38040 ^@ NM_000059.3(BRCA2):c.6344A>G (p.Glu2115Gly) http://identifiers.org/clinvar/38093 ^@ NM_000059.3(BRCA2):c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs) http://identifiers.org/clinvar/38143 ^@ NM_000059.3(BRCA2):c.8205_8206delCC (p.Leu2737Serfs) http://identifiers.org/clinvar/38193 ^@ NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) http://identifiers.org/clinvar/38243 ^@ NM_000059.3(BRCA2):c.9501+9A>C http://identifiers.org/clinvar/39217 ^@ NM_198578.3(LRRK2):c.6016T>C (p.Tyr2006His) http://identifiers.org/clinvar/39268 ^@ NM_207352.3(CYP4V2):c.655T>C (p.Tyr219His) http://identifiers.org/clinvar/39429 ^@ USH1C, 1-BP DEL, 1220G http://identifiers.org/clinvar/39481 ^@ NM_001567.3(INPPL1):c.94_121del28 (p.Glu32Metfs) http://identifiers.org/clinvar/39532 ^@ NM_000359.2(TGM1):c.1075G>A (p.Val359Met) http://identifiers.org/clinvar/39582 ^@ NM_152269.4(C12orf65):c.394C>T (p.Arg132Ter) http://identifiers.org/clinvar/39634 ^@ CHD8, 3-BP DEL, GGT http://identifiers.org/clinvar/39686 ^@ NM_006383.3(CIB2):c.297C>G (p.Cys99Trp) http://identifiers.org/clinvar/39736 ^@ AAGAB, 4-BP DEL, NT200 http://identifiers.org/clinvar/39787 ^@ NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp) http://identifiers.org/clinvar/39838 ^@ NM_002768.4(CHMP1A):c.28-13G>A http://identifiers.org/clinvar/39981 ^@ EPG5, 1-BP DUP, 5704T http://identifiers.org/clinvar/40093 ^@ NM_000267.3(NF1):c.574C>T (p.Arg192Ter) http://identifiers.org/clinvar/40245 ^@ NM_000138.4(FBN1):c.8226+1G>T http://identifiers.org/clinvar/40374 ^@ NM_004333.4(BRAF):c.1502A>T (p.Glu501Val) http://identifiers.org/clinvar/40441 ^@ NM_005343.3(HRAS):c.357C>T (p.Asp119=) http://identifiers.org/clinvar/40509 ^@ NM_002834.4(PTPN11):c.332+17T>G http://identifiers.org/clinvar/40567 ^@ NM_002834.4(PTPN11):c.1530G>C (p.Gln510His) http://identifiers.org/clinvar/40630 ^@ NM_002880.3(RAF1):c.*83C>T http://identifiers.org/clinvar/40713 ^@ NM_005633.3(SOS1):c.2988G>A (p.Pro996=) http://identifiers.org/clinvar/40804 ^@ NM_030662.3(MAP2K2):c.528+20A>G http://identifiers.org/clinvar/40993 ^@ NM_000095.2(COMP):c.1754C>A (p.Thr585Lys) http://identifiers.org/clinvar/41053 ^@ NM_003611.2(OFD1):c.1056-2A>T http://identifiers.org/clinvar/41108 ^@ NM_003611.2(OFD1):c.294_312del19 (p.Ser98Argfs) http://identifiers.org/clinvar/41162 ^@ NM_003977.3(AIP):c.135C>T (p.Asp45=) http://identifiers.org/clinvar/41215 ^@ NM_003977.3(AIP):c.919dupC (p.Arg307Profs) http://identifiers.org/clinvar/51173 ^@ NM_000059.3(BRCA2):c.1678A>G (p.Asn560Asp) http://identifiers.org/clinvar/51225 ^@ NM_000059.3(BRCA2):c.1910-17T>C http://identifiers.org/clinvar/51276 ^@ NM_000059.3(BRCA2):c.2402_2412delACAATTATGAA (p.Asn801Ilefs) http://identifiers.org/clinvar/51327 ^@ NM_000059.3(BRCA2):c.2684delC (p.Ala895Valfs) http://identifiers.org/clinvar/51377 ^@ NM_000059.3(BRCA2):c.2957A>G (p.Asn986Ser) http://identifiers.org/clinvar/51427 ^@ NM_000059.3(BRCA2):c.3228_3229delAG (p.Val1077Cysfs) http://identifiers.org/clinvar/51479 ^@ NM_000059.3(BRCA2):c.3503T>A (p.Met1168Lys) http://identifiers.org/clinvar/51530 ^@ NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) http://identifiers.org/clinvar/51582 ^@ NM_000059.3(BRCA2):c.4021delT (p.Ser1341Glnfs) http://identifiers.org/clinvar/51634 ^@ NM_000059.3(BRCA2):c.4339delG (p.Val1447Terfs) http://identifiers.org/clinvar/51684 ^@ NM_000059.3(BRCA2):c.462_463delAA (p.Asp156Terfs) http://identifiers.org/clinvar/51736 ^@ NM_000059.3(BRCA2):c.4897A>G (p.Ile1633Val) http://identifiers.org/clinvar/51788 ^@ NM_000059.3(BRCA2):c.516+1dupG http://identifiers.org/clinvar/51839 ^@ NM_000059.3(BRCA2):c.5299_5307delAAACTTGAT (p.Lys1767_Asp1769del) http://identifiers.org/clinvar/53357 ^@ NM_000492.3(CFTR):c.1713_1714delAG (p.Asp572Leufs) http://identifiers.org/clinvar/53407 ^@ NM_000492.3(CFTR):c.1860T>G (p.His620Gln) http://identifiers.org/clinvar/53459 ^@ NM_000492.3(CFTR):c.2248_2255delCCTCGCAT (p.Pro750Glnfs) http://identifiers.org/clinvar/53512 ^@ NM_000492.3(CFTR):c.2562delT (p.Val855Serfs) http://identifiers.org/clinvar/53562 ^@ NM_000492.3(CFTR):c.2758G>T (p.Val920Leu) http://identifiers.org/clinvar/53612 ^@ NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) http://identifiers.org/clinvar/53664 ^@ NM_000492.3(CFTR):c.3140G>A (p.Gly1047Asp) http://identifiers.org/clinvar/53715 ^@ NM_000492.3(CFTR):c.3310G>T (p.Glu1104Ter) http://identifiers.org/clinvar/53766 ^@ NM_000492.3(CFTR):c.3529A>T (p.Lys1177Ter) http://identifiers.org/clinvar/53818 ^@ NM_000492.3(CFTR):c.3829delA (p.Ile1277Terfs) http://identifiers.org/clinvar/53870 ^@ NM_000492.3(CFTR):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/53921 ^@ NM_000492.3(CFTR):c.4202A>G (p.Glu1401Gly) http://identifiers.org/clinvar/53971 ^@ NM_000492.3(CFTR):c.489+3A>G http://identifiers.org/clinvar/54021 ^@ NM_000492.3(CFTR):c.598T>A (p.Phe200Ile) http://identifiers.org/clinvar/54073 ^@ NM_000492.3(CFTR):c.862_869+1delTTAAGACAG http://identifiers.org/clinvar/54123 ^@ NM_007294.3(BRCA1):c.1086_1087delGA (p.Asn363Serfs) http://identifiers.org/clinvar/54173 ^@ NM_007294.3(BRCA1):c.124delA (p.Ile42Tyrfs) http://identifiers.org/clinvar/54223 ^@ NM_007294.3(BRCA1):c.1371delA (p.Asp458Thrfs) http://identifiers.org/clinvar/54274 ^@ NM_007294.3(BRCA1):c.1508A>G (p.Lys503Arg) http://identifiers.org/clinvar/54324 ^@ NM_007294.3(BRCA1):c.167A>G (p.Lys56Arg) http://identifiers.org/clinvar/54375 ^@ NM_007294.3(BRCA1):c.1870G>T (p.Glu624Ter) http://identifiers.org/clinvar/54425 ^@ NM_007294.3(BRCA1):c.1974G>C (p.Met658Ile) http://identifiers.org/clinvar/54475 ^@ NM_007294.3(BRCA1):c.2142delT (p.Asn714Lysfs) http://identifiers.org/clinvar/54525 ^@ NM_007294.3(BRCA1):c.2294A>G (p.Glu765Gly) http://identifiers.org/clinvar/54575 ^@ NM_007294.3(BRCA1):c.2473G>T (p.Asp825Tyr) http://identifiers.org/clinvar/54625 ^@ NM_007294.3(BRCA1):c.2641G>T (p.Glu881Ter) http://identifiers.org/clinvar/55321 ^@ NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser) http://identifiers.org/clinvar/55371 ^@ NM_007294.3(BRCA1):c.5071A>G (p.Thr1691Ala) http://identifiers.org/clinvar/55421 ^@ NM_007294.3(BRCA1):c.514delC (p.Gln172Asnfs) http://identifiers.org/clinvar/55471 ^@ NM_007294.3(BRCA1):c.5231delG (p.Arg1744Lysfs) http://identifiers.org/clinvar/55524 ^@ NM_007294.3(BRCA1):c.5320_5321delAA (p.Asn1774Hisfs) http://identifiers.org/clinvar/55574 ^@ NM_007294.3(BRCA1):c.5425_5430delGTTGTG (p.Val1809_Val1810del) http://identifiers.org/clinvar/55624 ^@ NM_007294.3(BRCA1):c.5553C>A (p.Asp1851Glu) http://identifiers.org/clinvar/55676 ^@ NM_007294.3(BRCA1):c.70_80delTGTCCCATCTG (p.Cys24Serfs) http://identifiers.org/clinvar/55727 ^@ NM_007294.3(BRCA1):c.825C>T (p.Gly275=) http://identifiers.org/clinvar/55789 ^@ NM_000059.3(BRCA2):c.1321dupA (p.Thr441Asnfs) http://identifiers.org/clinvar/55856 ^@ NM_032380.4(GFM2):c.1728T>A (p.Asp576Glu) http://identifiers.org/clinvar/55933 ^@ NM_001017995.2(SH3PXD2B):c.401+1G>A http://identifiers.org/clinvar/55986 ^@ NM_000111.2(SLC26A3):c.177dupC (p.Ile60Hisfs) http://identifiers.org/clinvar/56039 ^@ NM_000170.2(GLDC):c.1175delC (p.Ala392Valfs) http://identifiers.org/clinvar/56090 ^@ NM_000170.2(GLDC):c.2869T>C (p.Ser957Pro) http://identifiers.org/clinvar/56144 ^@ NM_000310.3(PPT1):c.114G>T (p.Trp38Cys) http://identifiers.org/clinvar/56195 ^@ NM_000310.3(PPT1):c.455G>A (p.Cys152Tyr) http://identifiers.org/clinvar/56246 ^@ NM_001042432.1(CLN3):c.1054C>T (p.Gln352Ter) http://identifiers.org/clinvar/56296 ^@ NM_001042432.1(CLN3):c.988G>T (p.Val330Phe) http://identifiers.org/clinvar/56348 ^@ NM_001126105.2(SLC7A7):c.105_107delGGA (p.Glu36del) http://identifiers.org/clinvar/56399 ^@ NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) http://identifiers.org/clinvar/56450 ^@ NM_004646.3(NPHS1):c.1760T>G (p.Leu587Arg) http://identifiers.org/clinvar/56500 ^@ NM_004646.3(NPHS1):c.3418C>T (p.Arg1140Cys) http://identifiers.org/clinvar/56551 ^@ NM_012434.4(SLC17A5):c.1007_1008delTA (p.Leu336Trpfs) http://identifiers.org/clinvar/56604 ^@ NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) http://identifiers.org/clinvar/56659 ^@ NM_017890.4(VPS13B):c.3618T>A (p.Cys1206Ter) http://identifiers.org/clinvar/56709 ^@ NM_018941.3(CLN8):c.46C>A (p.Leu16Met) http://identifiers.org/clinvar/56759 ^@ NM_030943.3(AMN):c.742C>T (p.Gln248Ter) http://identifiers.org/clinvar/126469 ^@ NM_021625.4(TRPV4):c.1787T>C (p.Leu596Pro) http://identifiers.org/clinvar/126532 ^@ NM_152305.2(POGLUT1):c.835C>T (p.Arg279Trp) http://identifiers.org/clinvar/126606 ^@ NM_024675.3(PALB2):c.1479delC (p.Thr494Leufs) http://identifiers.org/clinvar/126658 ^@ NM_024675.3(PALB2):c.2515-24A>G http://identifiers.org/clinvar/126708 ^@ NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) http://identifiers.org/clinvar/126759 ^@ NM_024675.3(PALB2):c.618T>G (p.Leu206=) http://identifiers.org/clinvar/126810 ^@ NM_000321.2(RB1):c.409G>T (p.Glu137Ter) http://identifiers.org/clinvar/126862 ^@ NM_004996.3(ABCC1):c.2461-1175C>G http://identifiers.org/clinvar/126919 ^@ NM_001127464.2(ZNF469):c.11615C>T (p.Pro3872Leu) http://identifiers.org/clinvar/126969 ^@ NM_017849.3(TMEM127):c.409+1G>T http://identifiers.org/clinvar/127019 ^@ NM_005591.3(MRE11):c.*1776C>T http://identifiers.org/clinvar/127071 ^@ NM_001735.2(C5):c.2654G>A (p.Arg885His) http://identifiers.org/clinvar/127140 ^@ NM_021803.3(IL21):c.146T>C (p.Leu49Pro) http://identifiers.org/clinvar/127239 ^@ NM_022166.3(XYLT1):c.1290-2A>C http://identifiers.org/clinvar/127293 ^@ NM_000038.5(APC):c.4217A>G (p.Gln1406Arg) http://identifiers.org/clinvar/127343 ^@ NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) http://identifiers.org/clinvar/127393 ^@ NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) http://identifiers.org/clinvar/127443 ^@ NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) http://identifiers.org/clinvar/127494 ^@ NM_000057.3(BLM):c.3044C>T (p.Thr1015Ile) http://identifiers.org/clinvar/127544 ^@ NM_000136.2(FANCC):c.632C>G (p.Pro211Arg) http://identifiers.org/clinvar/127594 ^@ NM_000179.2(MSH6):c.3824G>A (p.Cys1275Tyr) http://identifiers.org/clinvar/127645 ^@ NM_000251.2(MSH2):c.386C>T (p.Ser129Phe) http://identifiers.org/clinvar/127704 ^@ NM_000455.4(STK11):c.704A>C (p.Lys235Thr) http://identifiers.org/clinvar/127754 ^@ NM_000535.6(PMS2):c.1169C>T (p.Ala390Val) http://identifiers.org/clinvar/127805 ^@ NM_000546.5(TP53):c.248C>T (p.Ala83Val) http://identifiers.org/clinvar/160803 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 http://identifiers.org/clinvar/160854 ^@ GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3 http://identifiers.org/clinvar/160906 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 http://identifiers.org/clinvar/160958 ^@ GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 http://identifiers.org/clinvar/161009 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247671-35492978)x3 http://identifiers.org/clinvar/161059 ^@ GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 http://identifiers.org/clinvar/161109 ^@ NM_005214.4(CTLA4):c.151C>T (p.Arg51Ter) http://identifiers.org/clinvar/161159 ^@ NM_004963.3(GUCY2C):c.2782T>C (p.Cys928Arg) http://identifiers.org/clinvar/161291 ^@ NM_170707.3(LMNA):c.1931G>A (p.Arg644His) http://identifiers.org/clinvar/161341 ^@ NM_000312.3(PROC):c.340G>C (p.Gly114Arg) http://identifiers.org/clinvar/161241 ^@ NM_000138.4(FBN1):c.7660C>T (p.Arg2554Trp) http://identifiers.org/clinvar/161392 ^@ NM_001126335.1(SLC7A9):c.988G>A (p.Val330Met) http://identifiers.org/clinvar/161460 ^@ NM_000130.4(F5):c.2127G>A (p.Met709Ile) http://identifiers.org/clinvar/161610 ^@ NM_003304.4(TRPC1):c.868C>T (p.Gln290Ter) http://identifiers.org/clinvar/161760 ^@ NM_022470.3(ZMAT3):c.182G>A (p.Cys61Tyr) http://identifiers.org/clinvar/161560 ^@ NM_001191061.1(SLC25A22):c.178G>T (p.Glu60Ter) http://identifiers.org/clinvar/161860 ^@ NM_207361.5(FREM2):c.3497G>A (p.Arg1166His) http://identifiers.org/clinvar/161510 ^@ NM_001089.2(ABCA3):c.2086G>A (p.Asp696Asn) http://identifiers.org/clinvar/161660 ^@ NM_012091.4(ADAT1):c.674C>G (p.Pro225Arg) http://identifiers.org/clinvar/161710 ^@ NM_017712.3(PGPEP1):c.434G>A (p.Gly145Asp) http://identifiers.org/clinvar/161810 ^@ NM_145738.2(SYNGR1):c.487-3C>T http://identifiers.org/clinvar/162039 ^@ NM_000273.2(GPR143):c.223dupG (p.Ala75Glyfs) http://identifiers.org/clinvar/162095 ^@ NM_000345.3(SNCA):c.150T>G (p.His50Gln) http://identifiers.org/clinvar/166428 ^@ NM_206933.2(USH2A):c.13374delA (p.Glu4458Aspfs) http://identifiers.org/clinvar/165880 ^@ NM_001256850.1(TTN):c.62522G>A (p.Arg20841Gln) http://identifiers.org/clinvar/165720 ^@ NM_001256850.1(TTN):c.89257delCinsTCTAGCAG (p.Pro29753Serfs) http://identifiers.org/clinvar/166220 ^@ NM_133378.4(TTN):c.11398G>A (p.Val3800Ile) http://identifiers.org/clinvar/166272 ^@ NM_133379.4(TTN):c.12536A>C (p.Glu4179Ala) http://identifiers.org/clinvar/166052 ^@ NM_133378.4(TTN):c.36696delG (p.Lys12233Argfs) http://identifiers.org/clinvar/166322 ^@ NM_133378.4(TTN):c.4027C>T (p.Gln1343Ter) http://identifiers.org/clinvar/165377 ^@ NM_198253.2(TERT):c.3032+7C>T http://identifiers.org/clinvar/165966 ^@ NM_133378.4(TTN):c.47894G>A (p.Cys15965Tyr) http://identifiers.org/clinvar/165162 ^@ NM_198056.2(SCN5A):c.72C>T (p.Ile24=) http://identifiers.org/clinvar/166610 ^@ NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) http://identifiers.org/clinvar/198426 ^@ NM_000512.4(GALNS):c.740G>A (p.Gly247Asp) http://identifiers.org/clinvar/198476 ^@ NM_001927.3(DES):c.1245-3T>G http://identifiers.org/clinvar/198530 ^@ NM_005334.2(HCFC1):c.1047C>G (p.Asn349Lys) http://identifiers.org/clinvar/198581 ^@ NM_020751.2(COG6):c.624-3dupT http://identifiers.org/clinvar/198634 ^@ NM_000445.4(PLEC):c.715C>T (p.Arg239Trp) http://identifiers.org/clinvar/198684 ^@ NM_000019.3(ACAT1):c.765A>T (p.Glu255Asp) http://identifiers.org/clinvar/198739 ^@ NM_000528.3(MAN2B1):c.1109+3A>G http://identifiers.org/clinvar/198791 ^@ NM_004369.3(COL6A3):c.3589G>A (p.Val1197Ile) http://identifiers.org/clinvar/217358 ^@ NC_000023.11:g.(?_18625128)_(18628587_?)del http://identifiers.org/clinvar/200947 ^@ NM_170707.3(LMNA):c.367_369delAAG (p.Lys123del) http://identifiers.org/clinvar/201196 ^@ NM_001035.2(RYR2):c.535G>A (p.Asp179Asn) http://identifiers.org/clinvar/201252 ^@ NM_001035.2(RYR2):c.4912T>A (p.Ser1638Thr) http://identifiers.org/clinvar/201306 ^@ NM_001035.2(RYR2):c.11018G>A (p.Arg3673Gln) http://identifiers.org/clinvar/201362 ^@ NM_001035.2(RYR2):c.14804G>C (p.Gly4935Ala) http://identifiers.org/clinvar/201128 ^@ NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) http://identifiers.org/clinvar/201532 ^@ NM_198056.2(SCN5A):c.5221G>T (p.Asp1741Tyr) http://identifiers.org/clinvar/201589 ^@ NM_198056.2(SCN5A):c.4171G>A (p.Gly1391Arg) http://identifiers.org/clinvar/201419 ^@ NM_198056.2(SCN5A):c.2787+13_2787+17delAGGGC http://identifiers.org/clinvar/201473 ^@ NM_198056.2(SCN5A):c.2330T>A (p.Phe777Tyr) http://identifiers.org/clinvar/200495 ^@ NM_000238.3(KCNH2):c.2774G>C (p.Gly925Ala) http://identifiers.org/clinvar/200741 ^@ NM_000238.3(KCNH2):c.1811G>T (p.Gly604Val) http://identifiers.org/clinvar/200632 ^@ NM_000238.3(KCNH2):c.1316delG (p.Gly439Alafs) http://identifiers.org/clinvar/200325 ^@ NM_000238.3(KCNH2):c.1129-2A>G http://identifiers.org/clinvar/200832 ^@ NM_000218.2(KCNQ1):c.1009A>T (p.Ile337Phe) http://identifiers.org/clinvar/200886 ^@ NM_000218.2(KCNQ1):c.1032+5dupG http://identifiers.org/clinvar/201023 ^@ NM_130799.2(MEN1):c.1670_1672delAGA (p.Lys557del) http://identifiers.org/clinvar/200090 ^@ NM_000138.4(FBN1):c.6650G>A (p.Cys2217Tyr) http://identifiers.org/clinvar/200036 ^@ NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) http://identifiers.org/clinvar/200206 ^@ NM_000138.4(FBN1):c.3773delC (p.Pro1258Leufs) http://identifiers.org/clinvar/200151 ^@ NM_000138.4(FBN1):c.2180dupG (p.Cys727Trpfs) http://identifiers.org/clinvar/199982 ^@ NM_000138.4(FBN1):c.1889A>T (p.Asn630Ile) http://identifiers.org/clinvar/201077 ^@ NM_002474.2(MYH11):c.4538T>A (p.Met1513Lys) http://identifiers.org/clinvar/201646 ^@ NM_001103.3(ACTN2):c.2161C>T (p.Arg721Cys) http://identifiers.org/clinvar/201701 ^@ NM_001927.3(DES):c.725T>A (p.Val242Glu) http://identifiers.org/clinvar/201756 ^@ NM_004006.2(DMD):c.8628G>C (p.Gln2876His) http://identifiers.org/clinvar/232064 ^@ NM_004168.3(SDHA):c.476C>T (p.Pro159Leu) http://identifiers.org/clinvar/230325 ^@ NM_000535.6(PMS2):c.1167A>G (p.Ala389=) http://identifiers.org/clinvar/231864 ^@ NM_002485.4(NBN):c.69G>A (p.Glu23=) http://identifiers.org/clinvar/230375 ^@ NM_000077.4(CDKN2A):c.202_203delGCinsTT (p.Ala68Leu) http://identifiers.org/clinvar/232014 ^@ NM_000051.3(ATM):c.689A>G (p.Asn230Ser) http://identifiers.org/clinvar/232715 ^@ NM_000051.3(ATM):c.3439A>G (p.Ile1147Val) http://identifiers.org/clinvar/232865 ^@ NM_000051.3(ATM):c.4623G>T (p.Leu1541Phe) http://identifiers.org/clinvar/230425 ^@ NM_000051.3(ATM):c.5178-3C>G http://identifiers.org/clinvar/230225 ^@ NM_000051.3(ATM):c.6153C>T (p.Leu2051=) http://identifiers.org/clinvar/230875 ^@ NM_000051.3(ATM):c.6179G>C (p.Arg2060Pro) http://identifiers.org/clinvar/233957 ^@ NM_000051.3(ATM):c.6516A>C (p.Thr2172=) http://identifiers.org/clinvar/232114 ^@ NM_000051.3(ATM):c.6636C>T (p.Leu2212=) http://identifiers.org/clinvar/232665 ^@ NM_000059.3(BRCA2):c.1780A>G (p.Ile594Val) http://identifiers.org/clinvar/233015 ^@ NM_000059.3(BRCA2):c.3983G>A (p.Ser1328Asn) http://identifiers.org/clinvar/229875 ^@ NM_000059.3(BRCA2):c.6120A>C (p.Ile2040=) http://identifiers.org/clinvar/232965 ^@ NM_000059.3(BRCA2):c.8468A>G (p.Gln2823Arg) http://identifiers.org/clinvar/232414 ^@ NM_000059.3(BRCA2):c.9179T>G (p.Phe3060Cys) http://identifiers.org/clinvar/230075 ^@ NM_024675.3(PALB2):c.1767G>A (p.Thr589=) http://identifiers.org/clinvar/230175 ^@ NM_004360.4(CDH1):c.61C>G (p.Leu21Val) http://identifiers.org/clinvar/232214 ^@ NM_001042492.2(NF1):c.3799T>C (p.Leu1267=) http://identifiers.org/clinvar/233115 ^@ NM_001042492.2(NF1):c.4341G>C (p.Gln1447His) http://identifiers.org/clinvar/232364 ^@ NM_001042492.2(NF1):c.6871A>C (p.Ile2291Leu) http://identifiers.org/clinvar/232915 ^@ NM_007294.3(BRCA1):c.5108A>G (p.Tyr1703Cys) http://identifiers.org/clinvar/234057 ^@ NM_007294.3(BRCA1):c.2274G>A (p.Leu758=) http://identifiers.org/clinvar/234157 ^@ NM_007294.3(BRCA1):c.1978G>A (p.Val660Ile) http://identifiers.org/clinvar/232164 ^@ NM_007294.3(BRCA1):c.1542_1550delTGAGGATTTinsCG (p.Glu515Valfs) http://identifiers.org/clinvar/230275 ^@ NM_007294.3(BRCA1):c.439T>G (p.Leu147Val) http://identifiers.org/clinvar/232264 ^@ NM_058216.2(RAD51C):c.769C>G (p.Leu257Val) http://identifiers.org/clinvar/232615 ^@ NM_058216.2(RAD51C):c.952G>C (p.Asp318His) http://identifiers.org/clinvar/229925 ^@ NM_058216.2(RAD51C):c.966-1G>A http://identifiers.org/clinvar/229975 ^@ NM_032043.2(BRIP1):c.786G>C (p.Glu262Asp) http://identifiers.org/clinvar/232464 ^@ NM_007194.3(CHEK2):c.1618G>A (p.Ala540Thr) http://identifiers.org/clinvar/230025 ^@ NM_007194.3(CHEK2):c.1078G>A (p.Glu360Lys) http://identifiers.org/clinvar/232564 ^@ NM_007194.3(CHEK2):c.1032A>G (p.Ile344Met) http://identifiers.org/clinvar/234981 ^@ NM_001148.4(ANK2):c.9526G>T (p.Asp3176Tyr) http://identifiers.org/clinvar/235032 ^@ NM_000257.3(MYH7):c.4363G>A (p.Glu1455Lys) http://identifiers.org/clinvar/235082 ^@ NM_033163.3(FGF8):c.385C>T (p.Arg129Ter) http://identifiers.org/clinvar/235218 ^@ NM_030813.5(CLPB):c.668G>A (p.Ser223Asn) http://identifiers.org/clinvar/235271 ^@ NM_022114.3(PRDM16):c.553A>G (p.Met185Val) http://identifiers.org/clinvar/235325 ^@ NM_005270.4(GLI2):c.2488T>C (p.Phe830Leu) http://identifiers.org/clinvar/235378 ^@ NC_012920.1:m.6120A>G http://identifiers.org/clinvar/235640 ^@ NM_199242.2(UNC13D):c.1579C>T (p.Arg527Trp) http://identifiers.org/clinvar/235695 ^@ NM_004453.3(ETFDH):c.1773_1774delAT (p.Cys592Terfs) http://identifiers.org/clinvar/235757 ^@ NM_025074.6(FRAS1):c.1769T>C (p.Met590Thr) http://identifiers.org/clinvar/235830 ^@ NM_052867.2(NALCN):c.4338T>G (p.Ile1446Met) http://identifiers.org/clinvar/235902 ^@ NM_030632.2(ASXL3):c.6640T>C (p.Ser2214Pro) http://identifiers.org/clinvar/237850 ^@ NM_000488.3(SERPINC1):c.530G>A (p.Arg177His) http://identifiers.org/clinvar/237750 ^@ NM_000384.2(APOB):c.7863A>C (p.Leu2621=) http://identifiers.org/clinvar/239793 ^@ NM_004304.4(ALK):c.121C>T (p.Arg41Trp) http://identifiers.org/clinvar/239140 ^@ NM_002354.2(EPCAM):c.76G>A (p.Glu26Lys) http://identifiers.org/clinvar/237399 ^@ NM_000251.2(MSH2):c.554C>T (p.Ser185Phe) http://identifiers.org/clinvar/237148 ^@ NM_000179.2(MSH6):c.1937A>G (p.Lys646Arg) http://identifiers.org/clinvar/237199 ^@ NM_000179.2(MSH6):c.3864dupA (p.Phe1289Ilefs) http://identifiers.org/clinvar/238100 ^@ NM_000551.3(VHL):c.134C>G (p.Pro45Arg) http://identifiers.org/clinvar/237349 ^@ NM_000249.3(MLH1):c.884+10delC http://identifiers.org/clinvar/239593 ^@ NM_003924.3(PHOX2B):c.756_776del21 (p.Ala254_Ala260del) http://identifiers.org/clinvar/237249 ^@ NM_000222.2(KIT):c.1848G>A (p.Ala616=) http://identifiers.org/clinvar/239643 ^@ NM_004168.3(SDHA):c.1299C>T (p.Pro433=) http://identifiers.org/clinvar/237299 ^@ NM_000238.3(KCNH2):c.2944G>A (p.Asp982Asn) http://identifiers.org/clinvar/237900 ^@ NM_000535.6(PMS2):c.2096A>G (p.Asp699Gly) http://identifiers.org/clinvar/258053 ^@ NM_001369.2(DNAH5):c.6579+20G>A http://identifiers.org/clinvar/258003 ^@ NM_001369.2(DNAH5):c.1537-50G>A http://identifiers.org/clinvar/257553 ^@ NM_001135243.1(TCOF1):c.4004A>G (p.Lys1335Arg) http://identifiers.org/clinvar/263042 ^@ NM_182925.4(FLT4):c.3002-18C>A http://identifiers.org/clinvar/261253 ^@ NM_020381.3(PDSS2):c.552A>C (p.Gly184=) http://identifiers.org/clinvar/256064 ^@ NM_000426.3(LAMA2):c.3174+38A>G http://identifiers.org/clinvar/260853 ^@ NM_017651.4(AHI1):c.3039G>A (p.Gln1013=) http://identifiers.org/clinvar/261103 ^@ NM_019105.6(TNXB):c.11178G>A (p.Leu3726=) http://identifiers.org/clinvar/261153 ^@ NM_019105.6(TNXB):c.7168+19C>A http://identifiers.org/clinvar/258153 ^@ NM_001458.4(FLNC):c.7947C>T (p.Phe2649=) http://identifiers.org/clinvar/261053 ^@ NM_018718.2(CEP41):c.-5A>C http://identifiers.org/clinvar/255614 ^@ NM_000238.3(KCNH2):c.1467C>T (p.Ile489=) http://identifiers.org/clinvar/257903 ^@ NM_001277115.1(DNAH11):c.5270C>T (p.Ala1757Val) http://identifiers.org/clinvar/257853 ^@ NM_001277115.1(DNAH11):c.11373+17C>T http://identifiers.org/clinvar/261953 ^@ NM_031243.2(HNRNPA2B1):c.153+4T>C http://identifiers.org/clinvar/260753 ^@ NM_016616.4(NME8):c.1077A>G (p.Gln359=) http://identifiers.org/clinvar/255414 ^@ NM_000168.5(GLI3):c.1029-11C>T http://identifiers.org/clinvar/263092 ^@ NM_194456.1(KRIT1):c.1095A>G (p.Gly365=) http://identifiers.org/clinvar/261303 ^@ NM_020476.2(ANK1):c.3115+8C>T http://identifiers.org/clinvar/260903 ^@ NM_017780.3(CHD7):c.3523-35C>G http://identifiers.org/clinvar/255064 ^@ NM_000093.4(COL5A1):c.2592+16C>T http://identifiers.org/clinvar/261203 ^@ NM_019892.5(INPP5E):c.812+7_812+10delAGGG http://identifiers.org/clinvar/255314 ^@ NM_000141.4(FGFR2):c.109+10T>G http://identifiers.org/clinvar/255164 ^@ NM_000124.3(ERCC6):c.2170-38C>T http://identifiers.org/clinvar/257403 ^@ NM_001083116.1(PRF1):c.528C>T (p.Cys176=) http://identifiers.org/clinvar/260803 ^@ NM_016952.4(CDON):c.640+12G>A http://identifiers.org/clinvar/255664 ^@ NM_000260.3(MYO7A):c.5856+50G>A http://identifiers.org/clinvar/258203 ^@ NM_001843.3(CNTN1):c.905T>C (p.Leu302Pro) http://identifiers.org/clinvar/261353 ^@ NM_020661.3(AICDA):c.465C>T (p.His155=) http://identifiers.org/clinvar/258253 ^@ NM_001845.5(COL4A1):c.3877-9C>T http://identifiers.org/clinvar/257103 ^@ NM_001024858.2(SPTB):c.2562C>T (p.Phe854=) http://identifiers.org/clinvar/254714 ^@ NM_000021.3(PSEN1):c.868+16G>T http://identifiers.org/clinvar/257253 ^@ NM_001040108.1(MLH3):c.4335A>G (p.Gln1445=) http://identifiers.org/clinvar/254864 ^@ NM_000070.2(CAPN3):c.1914+30G>A http://identifiers.org/clinvar/334950 ^@ NM_152383.4(DIS3L2):c.*22dupG http://identifiers.org/clinvar/335050 ^@ NM_002242.4(KCNJ13):c.*121A>G http://identifiers.org/clinvar/335789 ^@ NM_000379.3(XDH):c.1243-7C>G http://identifiers.org/clinvar/336089 ^@ NM_022437.2(ABCG8):c.1756+15C>T http://identifiers.org/clinvar/333698 ^@ NM_001204.6(BMPR2):c.*4584T>A http://identifiers.org/clinvar/335739 ^@ NM_000379.3(XDH):c.*1407C>T http://identifiers.org/clinvar/333748 ^@ NM_012092.3(ICOS):c.*977T>G http://identifiers.org/clinvar/333398 ^@ NM_001006657.1(WDR35):c.1053T>C (p.Pro351=) http://identifiers.org/clinvar/333848 ^@ NM_014929.3(FASTKD2):c.*2960T>C http://identifiers.org/clinvar/335939 ^@ NM_000104.3(CYP1B1):c.*695G>T http://identifiers.org/clinvar/336846 ^@ NM_002056.3(GFPT1):c.*1639A>G http://identifiers.org/clinvar/336896 ^@ NM_001002755.2(NFU1):c.-48G>A http://identifiers.org/clinvar/336946 ^@ NM_003494.3(DYSF):c.663+10G>A http://identifiers.org/clinvar/336996 ^@ NM_003124.4(SPR):c.*400C>T http://identifiers.org/clinvar/337046 ^@ NM_080916.2(DGUOK):c.366G>C (p.Gln122His) http://identifiers.org/clinvar/333798 ^@ NM_014929.3(FASTKD2):c.-30T>C http://identifiers.org/clinvar/336339 ^@ NM_139279.5(MCFD2):c.*2336A>C http://identifiers.org/clinvar/337196 ^@ NM_000821.6(GGCX):c.*3630A>T http://identifiers.org/clinvar/337246 ^@ NM_000821.6(GGCX):c.*463G>A http://identifiers.org/clinvar/337296 ^@ NM_198843.2(SFTPB):c.*661A>G http://identifiers.org/clinvar/334149 ^@ NM_000384.2(APOB):c.3843C>T (p.Ser1281=) http://identifiers.org/clinvar/337546 ^@ NM_014014.4(SNRNP200):c.3744C>T (p.Asp1248=) http://identifiers.org/clinvar/337596 ^@ NM_020184.3(CNNM4):c.*95T>C http://identifiers.org/clinvar/334250 ^@ NM_173076.2(ABCA12):c.3829+12C>T http://identifiers.org/clinvar/334550 ^@ NM_015311.2(OBSL1):c.-209C>G http://identifiers.org/clinvar/337096 ^@ NM_004082.4(DCTN1):c.586A>G (p.Ile196Val) http://identifiers.org/clinvar/334500 ^@ NM_015311.2(OBSL1):c.2730C>A (p.Ala910=) http://identifiers.org/clinvar/334850 ^@ NM_025243.3(SLC19A3):c.*1517T>C http://identifiers.org/clinvar/337346 ^@ NM_022912.2(REEP1):c.*2886A>C http://identifiers.org/clinvar/334700 ^@ NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) http://identifiers.org/clinvar/337446 ^@ NM_017849.3(TMEM127):c.*3560G>T http://identifiers.org/clinvar/337496 ^@ NM_017849.3(TMEM127):c.*502C>T http://identifiers.org/clinvar/334750 ^@ NM_000091.4(COL4A3):c.-81G>C http://identifiers.org/clinvar/342276 ^@ NM_016247.3(IMPG2):c.*3824C>T http://identifiers.org/clinvar/334900 ^@ NM_004509.3(SP110):c.1650T>C (p.Gly550=) http://identifiers.org/clinvar/335839 ^@ NM_014946.3(SPAST):c.*98A>G http://identifiers.org/clinvar/335889 ^@ NM_014946.3(SPAST):c.*2904C>T http://identifiers.org/clinvar/335989 ^@ NM_005633.3(SOS1):c.*1694delT http://identifiers.org/clinvar/336139 ^@ NM_133259.3(LRPPRC):c.*456G>C http://identifiers.org/clinvar/350555 ^@ NM_001182.4(ALDH7A1):c.*1441C>T http://identifiers.org/clinvar/357881 ^@ NM_014989.5(RIMS1):c.*1390dupA http://identifiers.org/clinvar/358031 ^@ NM_004999.3(MYO6):c.*2547G>A http://identifiers.org/clinvar/358381 ^@ NM_005045.3(RELN):c.9524A>C (p.His3175Pro) http://identifiers.org/clinvar/358431 ^@ NM_005045.3(RELN):c.-29C>T http://identifiers.org/clinvar/358731 ^@ NM_000492.3(CFTR):c.1454G>C (p.Ser485Thr) http://identifiers.org/clinvar/358831 ^@ NM_000230.2(LEP):c.*1010C>A http://identifiers.org/clinvar/351694 ^@ NM_024577.3(SH3TC2):c.*11390A>G http://identifiers.org/clinvar/356092 ^@ NM_000367.4(TPMT):c.*1604G>A http://identifiers.org/clinvar/352242 ^@ NM_001135243.1(TCOF1):c.*233C>T http://identifiers.org/clinvar/352292 ^@ NM_000405.4(GM2A):c.*2430T>C http://identifiers.org/clinvar/359720 ^@ NM_032581.3(FAM126A):c.*3753C>T http://identifiers.org/clinvar/352542 ^@ NM_001099287.1(NIPAL4):c.*1221C>T http://identifiers.org/clinvar/352392 ^@ NM_000337.5(SGCD):c.*4559C>A http://identifiers.org/clinvar/352792 ^@ NM_001017995.2(SH3PXD2B):c.*624A>G http://identifiers.org/clinvar/360420 ^@ NM_014855.2(AP5Z1):c.*2882A>G http://identifiers.org/clinvar/352742 ^@ NM_001017995.2(SH3PXD2B):c.*3621G>A http://identifiers.org/clinvar/360570 ^@ NM_000048.3(ASL):c.1278C>T (p.Cys426=) http://identifiers.org/clinvar/352992 ^@ NM_000505.3(F12):c.1107G>C (p.Ser369=) http://identifiers.org/clinvar/352892 ^@ NM_022455.4(NSD1):c.7350T>C (p.Asn2450=) http://identifiers.org/clinvar/360670 ^@ NM_000501.3(ELN):c.*489G>T http://identifiers.org/clinvar/360720 ^@ NM_000941.2(POR):c.1898+3G>A http://identifiers.org/clinvar/352942 ^@ NM_022455.4(NSD1):c.*4611dupC http://identifiers.org/clinvar/357681 ^@ NM_000129.3(F13A1):c.-28G>A http://identifiers.org/clinvar/361320 ^@ NM_178857.5(RP1L1):c.3194C>T (p.Pro1065Leu) http://identifiers.org/clinvar/357781 ^@ NM_018368.3(LMBRD1):c.18G>C (p.Ala6=) http://identifiers.org/clinvar/358081 ^@ NM_181714.3(LCA5):c.*815A>C http://identifiers.org/clinvar/364458 ^@ NM_005502.3(ABCA1):c.651A>G (p.Leu217=) http://identifiers.org/clinvar/364508 ^@ NM_001079802.1(FKTN):c.*2516G>T http://identifiers.org/clinvar/301161 ^@ NM_000429.2(MAT1A):c.*1058T>C http://identifiers.org/clinvar/365308 ^@ NM_015046.5(SETX):c.*2065dupA http://identifiers.org/clinvar/308365 ^@ NM_139241.3(FGD4):c.*4756A>G http://identifiers.org/clinvar/365008 ^@ NM_138361.5(LRSAM1):c.-78C>T http://identifiers.org/clinvar/301211 ^@ NM_033100.3(CDHR1):c.152-9T>C http://identifiers.org/clinvar/365058 ^@ NM_003165.3(STXBP1):c.*497T>A http://identifiers.org/clinvar/301261 ^@ NM_033100.3(CDHR1):c.2473C>A (p.Pro825Thr) http://identifiers.org/clinvar/365408 ^@ NM_000368.4(TSC1):c.*3952A>G http://identifiers.org/clinvar/365158 ^@ NM_001130438.2(SPTAN1):c.1595A>G (p.Lys532Arg) http://identifiers.org/clinvar/365208 ^@ NM_014908.3(DOLK):c.-411C>T http://identifiers.org/clinvar/301661 ^@ NM_005097.3(LGI1):c.*59T>A http://identifiers.org/clinvar/365758 ^@ NM_000093.4(COL5A1):c.*727dupC http://identifiers.org/clinvar/365959 ^@ NM_016219.4(MAN1B1):c.1065+11T>C http://identifiers.org/clinvar/301961 ^@ NM_002427.3(MMP13):c.*997dupT http://identifiers.org/clinvar/302011 ^@ NM_001080463.1(DYNC2H1):c.1263C>A (p.Phe421Leu) http://identifiers.org/clinvar/302061 ^@ NM_001080463.1(DYNC2H1):c.7143A>G (p.Val2381=) http://identifiers.org/clinvar/309704 ^@ NM_002272.3(KRT4):c.306C>T (p.Pro102=) http://identifiers.org/clinvar/366059 ^@ NM_144966.5(FREM1):c.*2320A>C http://identifiers.org/clinvar/366159 ^@ NM_144966.5(FREM1):c.1495A>G (p.Ile499Val) http://identifiers.org/clinvar/310254 ^@ NM_014319.4(LEMD3):c.*1141A>G http://identifiers.org/clinvar/366209 ^@ NM_003070.4(SMARCA2):c.1877+9T>A http://identifiers.org/clinvar/310354 ^@ NM_000239.2(LYZ):c.*835C>T http://identifiers.org/clinvar/302950 ^@ NM_015645.4(C1QTNF5):c.-1121-4G>A http://identifiers.org/clinvar/310959 ^@ NM_002312.3(LIG4):c.*486A>G http://identifiers.org/clinvar/367048 ^@ NM_004170.5(SLC1A1):c.812T>C (p.Ile271Thr) http://identifiers.org/clinvar/312598 ^@ NM_005708.4(GPC6):c.*3693A>G http://identifiers.org/clinvar/313048 ^@ NM_025152.2(NUBPL):c.*1048G>A http://identifiers.org/clinvar/313098 ^@ NM_021914.7(CFL2):c.-83A>G http://identifiers.org/clinvar/322772 ^@ NM_145068.3(TRPV3):c.1258C>T (p.Leu420=) http://identifiers.org/clinvar/313348 ^@ NM_001202.5(BMP4):c.*131A>T http://identifiers.org/clinvar/341676 ^@ NM_022098.3(XPNPEP3):c.1236+9C>T http://identifiers.org/clinvar/341876 ^@ NM_052945.3(TNFRSF13C):c.347C>T (p.Ala116Val) http://identifiers.org/clinvar/323172 ^@ NM_002230.2(JUP):c.469-12T>C http://identifiers.org/clinvar/323222 ^@ NM_139276.2(STAT3):c.*1383G>C http://identifiers.org/clinvar/342026 ^@ NM_018006.4(TRMU):c.*210G>C http://identifiers.org/clinvar/323322 ^@ NM_032387.4(WNK4):c.1574G>A (p.Arg525His) http://identifiers.org/clinvar/315637 ^@ NM_018648.3(NOP10):c.55-9C>T http://identifiers.org/clinvar/323372 ^@ NM_000151.3(G6PC):c.*607G>A http://identifiers.org/clinvar/342076 ^@ NM_015166.3(MLC1):c.*1836G>A http://identifiers.org/clinvar/315687 ^@ NM_005159.4(ACTC1):c.*643C>A http://identifiers.org/clinvar/342226 ^@ NM_000487.5(ARSA):c.*342A>G http://identifiers.org/clinvar/315737 ^@ NM_152594.2(SPRED1):c.963G>A (p.Lys321=) http://identifiers.org/clinvar/323522 ^@ NM_000342.3(SLC4A1):c.-60G>A http://identifiers.org/clinvar/323722 ^@ NM_005910.5(MAPT):c.*3570T>C http://identifiers.org/clinvar/316037 ^@ NM_201631.3(TGM5):c.1822A>G (p.Lys608Glu) http://identifiers.org/clinvar/323922 ^@ NM_018129.3(PNPO):c.*745_*751dupTTCTTTT http://identifiers.org/clinvar/316237 ^@ NM_012388.3(BLOC1S6):c.*1446G>A http://identifiers.org/clinvar/324229 ^@ NM_000717.4(CA4):c.258C>T (p.Asn86=) http://identifiers.org/clinvar/368487 ^@ NM_000084.4(CLCN5):c.2095G>A (p.Val699Ile) http://identifiers.org/clinvar/324331 ^@ NM_032043.2(BRIP1):c.*1048_*1050delTAT http://identifiers.org/clinvar/368587 ^@ NM_006306.3(SMC1A):c.*96C>T http://identifiers.org/clinvar/368687 ^@ NM_153252.4(BRWD3):c.*5993G>C http://identifiers.org/clinvar/315087 ^@ NM_177438.2(DICER1):c.*943T>A http://identifiers.org/clinvar/317276 ^@ NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) http://identifiers.org/clinvar/317427 ^@ NM_018668.4(VPS33B):c.609A>G (p.Ala203=) http://identifiers.org/clinvar/317577 ^@ NM_000875.4(IGF1R):c.*4404G>T http://identifiers.org/clinvar/315587 ^@ NM_133647.1(SLC12A6):c.*1492T>C http://identifiers.org/clinvar/317627 ^@ NM_000875.4(IGF1R):c.*5926T>C http://identifiers.org/clinvar/315137 ^@ NM_139057.3(ADAMTS17):c.*2541A>G http://identifiers.org/clinvar/315787 ^@ NM_152594.2(SPRED1):c.*4987A>C http://identifiers.org/clinvar/315887 ^@ NM_016013.3(NDUFAF1):c.-386A>T http://identifiers.org/clinvar/315937 ^@ NM_138477.2(CDAN1):c.2197A>C (p.Ser733Arg) http://identifiers.org/clinvar/317827 ^@ NM_005236.2(ERCC4):c.*248G>A http://identifiers.org/clinvar/315987 ^@ NM_173500.3(TTBK2):c.2278C>T (p.Pro760Ser) http://identifiers.org/clinvar/325720 ^@ NM_138793.3(CANT1):c.-428C>T http://identifiers.org/clinvar/317927 ^@ NM_001287.5(CLCN7):c.*717C>A http://identifiers.org/clinvar/325771 ^@ NM_000152.4(GAA):c.-178G>A http://identifiers.org/clinvar/318077 ^@ NM_001143979.1(NDE1):c.947+6587C>T http://identifiers.org/clinvar/325871 ^@ NM_001139.2(ALOX12B):c.1854G>T (p.Thr618=) http://identifiers.org/clinvar/371942 ^@ NM_004168.3(SDHA):c.-7A>C http://identifiers.org/clinvar/371842 ^@ NM_004168.3(SDHA):c.1432+16A>G http://identifiers.org/clinvar/372092 ^@ NM_020975.4(RET):c.337+34C>T http://identifiers.org/clinvar/371892 ^@ NM_017559.2(FNDC8):c.-1802_-1798del5 http://identifiers.org/clinvar/372149 ^@ NM_019056.6(NDUFB11):c.391G>A (p.Glu131Lys) http://identifiers.org/clinvar/372221 ^@ NM_176869.2(PPA2):c.881A>C (p.Gln294Pro) http://identifiers.org/clinvar/372275 ^@ NM_181783.3(TMTC3):c.1959_1960insTT (p.Arg654Leufs) http://identifiers.org/clinvar/372792 ^@ NM_001854.3(COL11A1):c.1630-2delA http://identifiers.org/clinvar/373787 ^@ NM_018136.4(ASPM):c.4451A>T (p.Tyr1484Phe) http://identifiers.org/clinvar/372588 ^@ NM_001035.2(RYR2):c.14849A>G (p.Glu4950Gly) http://identifiers.org/clinvar/373587 ^@ NM_000384.2(APOB):c.13175G>A (p.Ser4392Asn) http://identifiers.org/clinvar/372538 ^@ NM_147196.2(TMIE):c.92A>G (p.Glu31Gly) http://identifiers.org/clinvar/372378 ^@ NM_000238.3(KCNH2):c.3099delG (p.Arg1035Glyfs) http://identifiers.org/clinvar/372485 ^@ NM_000317.2(PTS):c.281A>G (p.Asp94Gly) http://identifiers.org/clinvar/373537 ^@ NM_002247.3(KCNMA1):c.3479G>A (p.Arg1160Gln) http://identifiers.org/clinvar/372328 ^@ NM_001845.5(COL4A1):c.943C>T (p.Arg315Cys) http://identifiers.org/clinvar/373687 ^@ NM_005472.4(KCNE3):c.-12A>G http://identifiers.org/clinvar/373637 ^@ NM_000834.3(GRIN2B):c.3006_3009dupGCTC (p.Tyr1004Alafs) http://identifiers.org/clinvar/372429 ^@ NM_000257.3(MYH7):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/373737 ^@ NM_001271.3(CHD2):c.881G>T (p.Gly294Val) http://identifiers.org/clinvar/372692 ^@ NM_000199.3(SGSH):c.356-2A>G http://identifiers.org/clinvar/373487 ^@ NM_001204526.1(SSR4):c.454A>G (p.Thr152Ala) http://identifiers.org/clinvar/372639 ^@ NM_030662.3(MAP2K2):c.159delG (p.Leu54Trpfs) http://identifiers.org/clinvar/372742 ^@ NM_004006.2(DMD):c.1602+1G>A http://identifiers.org/clinvar/372845 ^@ NM_004586.2(RPS6KA3):c.718G>A (p.Val240Ile) http://identifiers.org/clinvar/373837 ^@ NG_005905.2:g.152940_163021dup10082 http://identifiers.org/clinvar/373887 ^@ NG_005905.2:g.(?_92501)_(127041_135408)del http://identifiers.org/clinvar/374140 ^@ NM_001182.4(ALDH7A1):c.1566-1G>T http://identifiers.org/clinvar/373940 ^@ NM_006772.2(SYNGAP1):c.2115G>A (p.Lys705=) http://identifiers.org/clinvar/374090 ^@ NM_017780.3(CHD7):c.6892C>T (p.Gln2298Ter) http://identifiers.org/clinvar/373990 ^@ NM_006624.5(ZMYND11):c.1294G>A (p.Glu432Lys) http://identifiers.org/clinvar/374190 ^@ NM_001376.4(DYNC1H1):c.6994C>T (p.Arg2332Cys) http://identifiers.org/clinvar/374040 ^@ NM_004586.2(RPS6KA3):c.1959+2dupT http://identifiers.org/clinvar/374244 ^@ NM_030632.2(ASXL3):c.1986C>A (p.Tyr662Ter) http://identifiers.org/clinvar/374314 ^@ NM_000094.3(COL7A1):c.6900+4A>G http://identifiers.org/clinvar/374379 ^@ NM_005853.5(IRX5):c.1362_1368delTAAAGACinsGT (p.Lys455Serfs) http://identifiers.org/clinvar/374432 ^@ NM_178857.5(RP1L1):c.4725G>A (p.Glu1575=) http://identifiers.org/clinvar/374482 ^@ NM_000053.3(ATP7B):c.3550A>G (p.Ile1184Val) http://identifiers.org/clinvar/374532 ^@ NM_138413.3(HOGA1):c.106G>A (p.Ala36Thr) http://identifiers.org/clinvar/374582 ^@ NM_000843.3(GRM6):c.2257G>A (p.Gly753Ser) http://identifiers.org/clinvar/374632 ^@ NM_003156.3(STIM1):c.1510A>G (p.Thr504Ala) http://identifiers.org/clinvar/374682 ^@ NM_014629.3(ARHGEF10):c.2748A>G (p.Gln916=) http://identifiers.org/clinvar/374732 ^@ NM_199292.2(TH):c.385C>T (p.Arg129Ter) http://identifiers.org/clinvar/374783 ^@ NM_025114.3(CEP290):c.7048C>A (p.Gln2350Lys) http://identifiers.org/clinvar/374842 ^@ NM_021964.2(ZNF148):c.1792A>T (p.Lys598Ter) http://identifiers.org/clinvar/374892 ^@ NM_138773.3(SLC25A46):c.1022T>C (p.Leu341Pro) http://identifiers.org/clinvar/389727 ^@ NM_000251.2(MSH2):c.2459-12A>C http://identifiers.org/clinvar/386488 ^@ NM_000179.2(MSH6):c.-50C>G http://identifiers.org/clinvar/389677 ^@ NM_000179.2(MSH6):c.2227T>C (p.Leu743=) http://identifiers.org/clinvar/390866 ^@ NM_003494.3(DYSF):c.732C>T (p.Thr244=) http://identifiers.org/clinvar/391466 ^@ NM_001135659.2(NRXN1):c.931+14T>G http://identifiers.org/clinvar/388827 ^@ NM_003494.3(DYSF):c.4533T>C (p.Asn1511=) http://identifiers.org/clinvar/383196 ^@ NM_000551.3(VHL):c.117C>T (p.Gly39=) http://identifiers.org/clinvar/390916 ^@ NM_000249.3(MLH1):c.711C>T (p.Thr237=) http://identifiers.org/clinvar/383146 ^@ NM_003280.2(TNNC1):c.393C>T (p.Asp131=) http://identifiers.org/clinvar/382646 ^@ NM_000925.3(PDHB):c.87T>A (p.Ala29=) http://identifiers.org/clinvar/382746 ^@ NM_000249.3(MLH1):c.2082G>A (p.Glu694=) http://identifiers.org/clinvar/386038 ^@ NM_000179.2(MSH6):c.-1T>C http://identifiers.org/clinvar/386638 ^@ NM_014476.5(PDLIM3):c.501G>A (p.Ala167=) http://identifiers.org/clinvar/377491 ^@ NM_000038.5(APC):c.3876G>A (p.Thr1292=) http://identifiers.org/clinvar/391066 ^@ NM_001080522.2(CC2D2A):c.3014+4A>C http://identifiers.org/clinvar/386238 ^@ NM_000806.5(GABRA1):c.-247C>T http://identifiers.org/clinvar/377741 ^@ NM_015697.7(COQ2):c.801G>A (p.Ala267=) http://identifiers.org/clinvar/386138 ^@ NM_000551.3(VHL):c.341-5G>A http://identifiers.org/clinvar/385938 ^@ NM_000038.5(APC):c.8430T>C (p.Asn2810=) http://identifiers.org/clinvar/377440 ^@ NM_014244.4(ADAMTS2):c.2795G>A (p.Arg932Gln) http://identifiers.org/clinvar/382896 ^@ NM_001069.2(TUBB2A):c.1323C>T (p.Gly441=) http://identifiers.org/clinvar/379440 ^@ NM_023073.3(C5orf42):c.4947A>G (p.Ser1649=) http://identifiers.org/clinvar/389027 ^@ NM_023073.3(C5orf42):c.81+5G>T http://identifiers.org/clinvar/389127 ^@ NM_033071.3(SYNE1):c.17800-16A>G http://identifiers.org/clinvar/382696 ^@ NM_033071.3(SYNE1):c.24975+3A>G http://identifiers.org/clinvar/389327 ^@ NM_058246.3(DNAJB6):c.621-15A>T http://identifiers.org/clinvar/386538 ^@ NM_000238.3(KCNH2):c.916+8C>A http://identifiers.org/clinvar/390516 ^@ NM_001130438.2(SPTAN1):c.4288C>G (p.Leu1430Val) http://identifiers.org/clinvar/379790 ^@ NM_017780.3(CHD7):c.1123C>T (p.Gln375Ter) http://identifiers.org/clinvar/391666 ^@ NM_003172.3(SURF1):c.107-19G>A http://identifiers.org/clinvar/386888 ^@ NM_000445.4(PLEC):c.9795G>A (p.Pro3265=) http://identifiers.org/clinvar/388577 ^@ NM_007327.3(GRIN1):c.333C>T (p.Ala111=) http://identifiers.org/clinvar/382946 ^@ NM_002485.4(NBN):c.1314T>C (p.Ser438=) http://identifiers.org/clinvar/378688 ^@ NM_003165.3(STXBP1):c.903-4C>G http://identifiers.org/clinvar/383297 ^@ NM_001134363.2(RBM20):c.-19C>T http://identifiers.org/clinvar/379740 ^@ NM_016035.4(COQ4):c.402+1G>C http://identifiers.org/clinvar/391766 ^@ NM_006059.3(LAMC3):c.2718C>T (p.Phe906=) http://identifiers.org/clinvar/133030 ^@ NM_000540.2(RYR1):c.1202G>A (p.Arg401His) http://identifiers.org/clinvar/133080 ^@ NM_000540.2(RYR1):c.14588_14605del18 (p.Phe4863_Asp4869delinsTyr) http://identifiers.org/clinvar/133130 ^@ NM_000540.2(RYR1):c.4454+29G>A http://identifiers.org/clinvar/133180 ^@ NM_000540.2(RYR1):c.7042_7044delGAG (p.Glu2348del) http://identifiers.org/clinvar/133230 ^@ NM_000540.2(RYR1):c.8600T>A (p.Leu2867Gln) http://identifiers.org/clinvar/133309 ^@ NM_194248.2(OTOF):c.1172delA (p.Lys391Argfs) http://identifiers.org/clinvar/133372 ^@ NM_001280549.1(PAX5):c.959C>T (p.Ala320Val) http://identifiers.org/clinvar/133422 ^@ NM_000368.4(TSC1):c.-80-2A>G http://identifiers.org/clinvar/133472 ^@ NM_004304.4(ALK):c.4381A>G (p.Ile1461Val) http://identifiers.org/clinvar/133523 ^@ NM_000038.5(APC):c.7832C>T (p.Thr2611Ile) http://identifiers.org/clinvar/133573 ^@ NM_152641.3(ARID2):c.227T>G (p.Phe76Cys) http://identifiers.org/clinvar/133623 ^@ NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) http://identifiers.org/clinvar/133673 ^@ NM_001706.4(BCL6):c.492G>T (p.Glu164Asp) http://identifiers.org/clinvar/133723 ^@ NM_007294.3(BRCA1):c.2330A>G (p.Tyr777Cys) http://identifiers.org/clinvar/133777 ^@ NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp) http://identifiers.org/clinvar/133827 ^@ NM_001321786.1(CBLB):c.2965G>A (p.Glu989Lys) http://identifiers.org/clinvar/133877 ^@ NM_000075.3(CDK4):c.763C>T (p.Arg255Cys) http://identifiers.org/clinvar/133927 ^@ NM_004380.2(CREBBP):c.3199A>G (p.Ser1067Gly) http://identifiers.org/clinvar/133977 ^@ NM_001005360.2(DNM2):c.164A>G (p.Asp55Gly) http://identifiers.org/clinvar/134027 ^@ NM_005228.4(EGFR):c.2885G>A (p.Arg962His) http://identifiers.org/clinvar/134079 ^@ NM_001005862.2(ERBB2):c.3092T>C (p.Leu1031Pro) http://identifiers.org/clinvar/134129 ^@ NM_000122.1(ERCC3):c.1333A>T (p.Thr445Ser) http://identifiers.org/clinvar/134179 ^@ NM_000123.3(ERCC5):c.592C>A (p.Pro198Thr) http://identifiers.org/clinvar/134229 ^@ NM_017709.3(FAM46C):c.201C>G (p.His67Gln) http://identifiers.org/clinvar/134280 ^@ NM_000135.2(FANCA):c.4015C>T (p.Leu1339Phe) http://identifiers.org/clinvar/136009 ^@ NM_001166110.1(PALLD):c.466G>A (p.Val156Ile) http://identifiers.org/clinvar/136059 ^@ NM_004360.4(CDH1):c.1416C>T (p.Thr472=) http://identifiers.org/clinvar/136110 ^@ NM_020975.4(RET):c.2409C>T (p.Ile803=) http://identifiers.org/clinvar/136160 ^@ NM_058216.2(RAD51C):c.523G>A (p.Ala175Thr) http://identifiers.org/clinvar/136221 ^@ NM_020745.3(AARS2):c.2871A= (p.Ser957=) http://identifiers.org/clinvar/136272 ^@ NM_174917.4(ACSF3):c.306C>T (p.Cys102=) http://identifiers.org/clinvar/136322 ^@ NM_004208.3(AIFM1):c.996A>G (p.Gln332=) http://identifiers.org/clinvar/136373 ^@ NM_001182.4(ALDH7A1):c.1009-6G>A http://identifiers.org/clinvar/185223 ^@ NM_001042492.2(NF1):c.7484C>T (p.Ser2495Phe) http://identifiers.org/clinvar/187064 ^@ NM_001042492.2(NF1):c.8095C>T (p.Gln2699Ter) http://identifiers.org/clinvar/186814 ^@ NM_001042492.2(NF1):c.8446G>A (p.Gly2816Arg) http://identifiers.org/clinvar/184723 ^@ NM_001042492.2(NF1):c.8484C>T (p.Gly2828=) http://identifiers.org/clinvar/187314 ^@ NM_002878.3(RAD51D):c.550G>A (p.Glu184Lys) http://identifiers.org/clinvar/186563 ^@ NM_007294.3(BRCA1):c.1775G>A (p.Ser592Asn) http://identifiers.org/clinvar/184373 ^@ NM_007294.3(BRCA1):c.1731A>G (p.Glu577=) http://identifiers.org/clinvar/183872 ^@ NM_007294.3(BRCA1):c.768G>A (p.Arg256=) http://identifiers.org/clinvar/186362 ^@ NM_058216.2(RAD51C):c.252G>T (p.Lys84Asn) http://identifiers.org/clinvar/183772 ^@ NM_058216.2(RAD51C):c.459T>G (p.Gly153=) http://identifiers.org/clinvar/185173 ^@ NM_032043.2(BRIP1):c.3567T>C (p.Asp1189=) http://identifiers.org/clinvar/183822 ^@ NM_032043.2(BRIP1):c.3009A>G (p.Ser1003=) http://identifiers.org/clinvar/187164 ^@ NM_032043.2(BRIP1):c.440dupA (p.Tyr147Terfs) http://identifiers.org/clinvar/184873 ^@ NM_000546.5(TP53):c.612G>A (p.Glu204=) http://identifiers.org/clinvar/184473 ^@ NM_000455.4(STK11):c.681C>T (p.Gly227=) http://identifiers.org/clinvar/184573 ^@ NM_000455.4(STK11):c.756G>A (p.Leu252=) http://identifiers.org/clinvar/184073 ^@ NM_007194.3(CHEK2):c.1563G>A (p.Arg521=) http://identifiers.org/clinvar/186864 ^@ NM_007194.3(CHEK2):c.301G>T (p.Asp101Tyr) http://identifiers.org/clinvar/188456 ^@ NM_004415.3(DSP):c.897C>T (p.Ser299=) http://identifiers.org/clinvar/188506 ^@ NM_001110792.1(MECP2):c.863_*44del679 http://identifiers.org/clinvar/188957 ^@ NM_000030.2(AGXT):c.106C>T (p.Arg36Cys) http://identifiers.org/clinvar/189158 ^@ NM_000051.3(ATM):c.1524delT (p.Gly509Glufs) http://identifiers.org/clinvar/188856 ^@ NM_014363.5(SACS):c.2439_2440delAT (p.Val815Glyfs) http://identifiers.org/clinvar/189108 ^@ NM_000053.3(ATP7B):c.3552dupT (p.Asp1185Terfs) http://identifiers.org/clinvar/189058 ^@ NM_000053.3(ATP7B):c.2828G>A (p.Gly943Asp) http://identifiers.org/clinvar/188907 ^@ NM_000137.2(FAH):c.1190delA (p.Gln397Argfs) http://identifiers.org/clinvar/189008 ^@ NM_000018.3(ACADVL):c.887_888delCT (p.Pro296Argfs) http://identifiers.org/clinvar/189224 ^@ NM_000046.3(ARSB):c.1450A>G (p.Arg484Gly) http://identifiers.org/clinvar/189276 ^@ NM_014795.3(ZEB2):c.2179_2180delTT (p.Leu727Ilefs) http://identifiers.org/clinvar/189335 ^@ NM_001190442.1(CAST):c.298A>T (p.Lys100Ter) http://identifiers.org/clinvar/189426 ^@ NM_000314.6(PTEN):c.360A>C (p.Ala120=) http://identifiers.org/clinvar/189486 ^@ NM_000314.6(PTEN):c.367C>T (p.His123Tyr) http://identifiers.org/clinvar/189598 ^@ NM_003159.2(CDKL5):c.745-?_825+?del http://identifiers.org/clinvar/189748 ^@ NM_004992.3(MECP2):c.1117_1203del87 (p.Ser373_Ser401del) http://identifiers.org/clinvar/189648 ^@ NM_004992.3(MECP2):c.1101_1201del101 (p.His367Glnfs) http://identifiers.org/clinvar/189698 ^@ NM_004992.3(MECP2):c.27-6026_1190delinsGT http://identifiers.org/clinvar/189548 ^@ NM_003159.2(CDKL5):c.59G>A (p.Gly20Asp) http://identifiers.org/clinvar/189820 ^@ NM_002334.3(LRP4):c.3697G>A (p.Glu1233Lys) http://identifiers.org/clinvar/189982 ^@ NM_001165963.1(SCN1A):c.747T>G (p.Asp249Glu) http://identifiers.org/clinvar/190033 ^@ NC_000007.13:g.(?_146705271)_(146748724_?)dup http://identifiers.org/clinvar/190167 ^@ NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs) http://identifiers.org/clinvar/190286 ^@ NM_006245.3(PPP2R5D):c.592G>A (p.Glu198Lys) http://identifiers.org/clinvar/190351 ^@ NM_002055.4(GFAP):c.934G>T (p.Glu312Ter) http://identifiers.org/clinvar/226641 ^@ NM_001458.4(FLNC):c.4404C= (p.Asp1468=) http://identifiers.org/clinvar/226741 ^@ NM_001018116.2(CAVIN4):c.570A>T (p.Ser190=) http://identifiers.org/clinvar/226891 ^@ NM_001277269.1(OTOG):c.4058G>A (p.Arg1353Gln) http://identifiers.org/clinvar/229173 ^@ NM_002834.4(PTPN11):c.1713-5T>A http://identifiers.org/clinvar/226991 ^@ NM_012226.4(P2RX2):c.9C>T (p.Ala3=) http://identifiers.org/clinvar/229123 ^@ NM_012226.4(P2RX2):c.1018G>C (p.Asp340His) http://identifiers.org/clinvar/226941 ^@ NM_173591.3(OTOGL):c.3329T>C (p.Ile1110Thr) http://identifiers.org/clinvar/228384 ^@ NM_173591.3(OTOGL):c.4987C>T (p.Arg1663Ter) http://identifiers.org/clinvar/229273 ^@ NC_000015.10:g.(?_43599672)_(43605399_?)dup http://identifiers.org/clinvar/226491 ^@ NM_017950.3(CCDC40):c.2604C>T (p.Phe868=) http://identifiers.org/clinvar/227092 ^@ NM_001039876.2(SYNE4):c.96C>T (p.Thr32=) http://identifiers.org/clinvar/229323 ^@ NM_024022.2(TMPRSS3):c.1000G>A (p.Asp334Asn) http://identifiers.org/clinvar/226541 ^@ NM_001161529.1(CSF2RA):c.300T>C (p.Thr100=) http://identifiers.org/clinvar/229373 ^@ NM_144991.2(TSPEAR):c.1786G>A (p.Glu596Lys) http://identifiers.org/clinvar/234892 ^@ NM_002977.3(SCN9A):c.1650C>G (p.Ser550Arg) http://identifiers.org/clinvar/229725 ^@ NM_000179.2(MSH6):c.359T>C (p.Ile120Thr) http://identifiers.org/clinvar/234842 ^@ NM_000179.2(MSH6):c.1255_1268delCAGAACTTTGATCT (p.Gln419Cysfs) http://identifiers.org/clinvar/234370 ^@ NM_000249.3(MLH1):c.392C>G (p.Ser131Ter) http://identifiers.org/clinvar/234489 ^@ NM_000249.3(MLH1):c.608A>T (p.Asp203Val) http://identifiers.org/clinvar/234540 ^@ NM_000249.3(MLH1):c.1989+5G>T http://identifiers.org/clinvar/234439 ^@ NM_000535.6(PMS2):c.2266G>A (p.Asp756Asn) http://identifiers.org/clinvar/234691 ^@ NM_002180.2(IGHMBP2):c.1913C>T (p.Thr638Met) http://identifiers.org/clinvar/234641 ^@ NM_032043.2(BRIP1):c.133G>A (p.Glu45Lys) http://identifiers.org/clinvar/234591 ^@ NM_004655.3(AXIN2):c.-128C>A http://identifiers.org/clinvar/234741 ^@ NM_004655.3(AXIN2):c.-135G>A http://identifiers.org/clinvar/234791 ^@ NM_000455.4(STK11):c.463G>A (p.Gly155Arg) http://identifiers.org/clinvar/234318 ^@ NM_000214.2(JAG1):c.693_694delAG (p.Arg231Serfs) http://identifiers.org/clinvar/233065 ^@ NM_007194.3(CHEK2):c.354C>G (p.Asp118Glu) http://identifiers.org/clinvar/230125 ^@ NM_000143.3(FH):c.456T>C (p.Asn152=) http://identifiers.org/clinvar/229825 ^@ NM_001128425.1(MUTYH):c.1584C>T (p.Val528=) http://identifiers.org/clinvar/234007 ^@ NM_001128425.1(MUTYH):c.433G>C (p.Val145Leu) http://identifiers.org/clinvar/231914 ^@ NM_000465.3(BARD1):c.1734T>A (p.Ser578=) http://identifiers.org/clinvar/232815 ^@ NM_000465.3(BARD1):c.1322T>C (p.Ile441Thr) http://identifiers.org/clinvar/232765 ^@ NM_000251.2(MSH2):c.-68-101T>C http://identifiers.org/clinvar/229775 ^@ NM_000251.2(MSH2):c.1465G>A (p.Glu489Lys) http://identifiers.org/clinvar/229675 ^@ NM_000251.2(MSH2):c.1748A>T (p.Asn583Ile) http://identifiers.org/clinvar/231964 ^@ NM_000179.2(MSH6):c.905G>T (p.Arg302Ile) http://identifiers.org/clinvar/234107 ^@ NM_000179.2(MSH6):c.3083C>T (p.Ser1028Leu) http://identifiers.org/clinvar/232514 ^@ NM_000249.3(MLH1):c.46G>A (p.Val16Met) http://identifiers.org/clinvar/232314 ^@ NM_000249.3(MLH1):c.103A>G (p.Met35Val) http://identifiers.org/clinvar/263850 ^@ NM_002474.2(MYH11):c.3409G>T (p.Ala1137Ser) http://identifiers.org/clinvar/264200 ^@ NM_002474.2(MYH11):c.3286C>A (p.Leu1096Met) http://identifiers.org/clinvar/263397 ^@ NM_002474.2(MYH11):c.1434C>T (p.Tyr478=) http://identifiers.org/clinvar/263750 ^@ NM_003673.3(TCAP):c.300C>T (p.Gly100=) http://identifiers.org/clinvar/264606 ^@ NM_024422.4(DSC2):c.870A>G (p.Pro290=) http://identifiers.org/clinvar/263900 ^@ NM_000071.2(CBS):c.1161C>T (p.Ser387=) http://identifiers.org/clinvar/263650 ^@ NM_006440.4(TXNRD2):c.1401C>T (p.Gly467=) http://identifiers.org/clinvar/263800 ^@ NM_004006.2:c.7096A>C http://identifiers.org/clinvar/264721 ^@ NM_001242896.1(DEPDC5):c.624+1G>A http://identifiers.org/clinvar/264926 ^@ NM_000059.3(BRCA2):c.6842-375del http://identifiers.org/clinvar/264876 ^@ NM_000059.3(BRCA2):c.8332-1592G>T http://identifiers.org/clinvar/264976 ^@ NM_000059.3(BRCA2):c.9649-158A>G http://identifiers.org/clinvar/264826 ^@ NM_007294.3(BRCA1):c.4185+2981A>G http://identifiers.org/clinvar/264776 ^@ NM_007294.3(BRCA1):c.442-810_442-809insACA http://identifiers.org/clinvar/265536 ^@ NM_021222.2(PRUNE1):c.521-2A>G http://identifiers.org/clinvar/265286 ^@ NM_206933.2(USH2A):c.2304C>A (p.Cys768Ter) http://identifiers.org/clinvar/265386 ^@ NM_006516.2(SLC2A1):c.635G>A (p.Arg212His) http://identifiers.org/clinvar/265081 ^@ NM_000094.3(COL7A1):c.8329C>T (p.Arg2777Ter) http://identifiers.org/clinvar/265182 ^@ NM_000168.5(GLI3):c.3118G>A (p.Glu1040Lys) http://identifiers.org/clinvar/265131 ^@ NM_000127.2(EXT1):c.1469delT (p.Leu490Argfs) http://identifiers.org/clinvar/265336 ^@ NM_000051.3(ATM):c.2147T>A (p.Val716Asp) http://identifiers.org/clinvar/265235 ^@ NM_130799.2(MEN1):c.660G>A (p.Trp220Ter) http://identifiers.org/clinvar/265436 ^@ NM_000545.6(HNF1A):c.779C>T (p.Thr260Met) http://identifiers.org/clinvar/265486 ^@ NM_005557.3(KRT16):c.383T>C (p.Leu128Pro) http://identifiers.org/clinvar/265028 ^@ NM_000383.3(AIRE):c.901G>A (p.Val301Met) http://identifiers.org/clinvar/267147 ^@ NM_000059.3(BRCA2):c.9254dupC (p.Gly3086Argfs) http://identifiers.org/clinvar/267211 ^@ NM_000836.2(GRIN2D):c.1999G>A (p.Val667Ile) http://identifiers.org/clinvar/267276 ^@ NM_000785.3(CYP27B1):c.1358G>A (p.Arg453His) http://identifiers.org/clinvar/267349 ^@ NM_001734.3(C1S):c.880T>C (p.Cys294Arg) http://identifiers.org/clinvar/267418 ^@ NM_017780.3(CHD7):c.1812C>A (p.Asn604Lys) http://identifiers.org/clinvar/267654 ^@ NM_000059.3(BRCA2):c.632-2del http://identifiers.org/clinvar/267704 ^@ NM_000059.3(BRCA2):c.8754+1G>T http://identifiers.org/clinvar/267504 ^@ NM_007294.3(BRCA1):c.135-?_547+?del http://identifiers.org/clinvar/267604 ^@ NM_007294.3(BRCA1):c.5467+1del http://identifiers.org/clinvar/267554 ^@ NM_007294.3(BRCA1):c.4675+2T>A http://identifiers.org/clinvar/267783 ^@ NM_006087.3(TUBB4A):c.941C>T (p.A314V) http://identifiers.org/clinvar/267834 ^@ 46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn http://identifiers.org/clinvar/267884 ^@ 46;XY;t(3;5)(q23;q13)dn http://identifiers.org/clinvar/267934 ^@ 46;XX;t(2;11)(p13.1;p15.5)dn http://identifiers.org/clinvar/267984 ^@ 46;XY;inv(9)(q22.3q33.2) http://identifiers.org/clinvar/268034 ^@ 46;XY;t(1;10;4)(p32.2;q21.1;q23)dn http://identifiers.org/clinvar/268098 ^@ NM_006578.3(GNB5):c.249G>A (p.Gln83=) http://identifiers.org/clinvar/268154 ^@ NC_000016.8:g.9505697_11138596dup1632899 http://identifiers.org/clinvar/291542 ^@ NM_001854.3(COL11A1):c.845A>G (p.Glu282Gly) http://identifiers.org/clinvar/291592 ^@ NM_015074.3(KIF1B):c.*281_*286delTACACA http://identifiers.org/clinvar/291645 ^@ NM_015074.3(KIF1B):c.*3639T>C http://identifiers.org/clinvar/292634 ^@ NM_152263.3(TPM3):c.*5440A>C http://identifiers.org/clinvar/292734 ^@ NM_001111.4(ADAR):c.*857C>T http://identifiers.org/clinvar/292384 ^@ NM_014874.3(MFN2):c.*231G>A http://identifiers.org/clinvar/292434 ^@ NM_213653.3(HFE2):c.1257T>G (p.Phe419Leu) http://identifiers.org/clinvar/292884 ^@ NM_001012331.1(NTRK1):c.1218C>T (p.Asp406=) http://identifiers.org/clinvar/292984 ^@ NM_003126.2(SPTA1):c.4430G>A (p.Arg1477His) http://identifiers.org/clinvar/292484 ^@ NM_005850.4(SF3B4):c.-25G>A http://identifiers.org/clinvar/292534 ^@ NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp) http://identifiers.org/clinvar/292584 ^@ NM_000396.3(CTSK):c.551A>G (p.Asn184Ser) http://identifiers.org/clinvar/292684 ^@ NM_152263.3(TPM3):c.*958C>T http://identifiers.org/clinvar/292834 ^@ NM_005572.3(LMNA):c.294G>A (p.Glu98=) http://identifiers.org/clinvar/293034 ^@ NM_003126.2(SPTA1):c.1672G>A (p.Asp558Asn) http://identifiers.org/clinvar/292934 ^@ NM_003126.2(SPTA1):c.*68C>G http://identifiers.org/clinvar/336396 ^@ NM_002354.2(EPCAM):c.-318C>A http://identifiers.org/clinvar/336039 ^@ NM_022436.2(ABCG5):c.1365C>T (p.Asp455=) http://identifiers.org/clinvar/336446 ^@ NM_000233.3(LHCGR):c.*577T>A http://identifiers.org/clinvar/336546 ^@ NM_001135659.2(NRXN1):c.3484+9C>T http://identifiers.org/clinvar/336189 ^@ NM_000341.3(SLC3A1):c.417C>T (p.Asn139=) http://identifiers.org/clinvar/336596 ^@ NM_001135659.2(NRXN1):c.-1455_-1452dupCTCT http://identifiers.org/clinvar/336239 ^@ NM_001430.4(EPAS1):c.218-10_218-9insTC http://identifiers.org/clinvar/336289 ^@ NM_001430.4(EPAS1):c.*354G>C http://identifiers.org/clinvar/344875 ^@ NM_006371.4(CRTAP):c.*3891C>T http://identifiers.org/clinvar/345075 ^@ NM_198056.2(SCN5A):c.*1537T>C http://identifiers.org/clinvar/336496 ^@ NM_001135659.2(NRXN1):c.*3346T>A http://identifiers.org/clinvar/336746 ^@ NM_032180.2(FAM161A):c.-16C>G http://identifiers.org/clinvar/336796 ^@ NM_002056.3(GFPT1):c.*5004G>A http://identifiers.org/clinvar/345425 ^@ NM_020208.3(SLC6A20):c.262+4C>T http://identifiers.org/clinvar/345525 ^@ NM_024513.3(FYCO1):c.1325G>A (p.Arg442Gln) http://identifiers.org/clinvar/337146 ^@ NM_013247.4(HTRA2):c.*537G>A http://identifiers.org/clinvar/337396 ^@ NM_004836.6(EIF2AK3):c.*286G>C http://identifiers.org/clinvar/345375 ^@ NM_020208.3(SLC6A20):c.*1328T>C http://identifiers.org/clinvar/342326 ^@ NM_016247.3(IMPG2):c.*371G>A http://identifiers.org/clinvar/342376 ^@ NM_033084.4(FANCD2):c.3734C>T (p.Thr1245Met) http://identifiers.org/clinvar/342426 ^@ NM_000551.3(VHL):c.*1072C>T http://identifiers.org/clinvar/345775 ^@ NM_033629.4(TREX1):c.312G>C (p.Leu104=) http://identifiers.org/clinvar/347064 ^@ NM_005908.3(MANBA):c.*516T>C http://identifiers.org/clinvar/345875 ^@ NM_000094.3(COL7A1):c.1473C>T (p.His491=) http://identifiers.org/clinvar/345975 ^@ NM_002292.3(LAMB2):c.5026G>A (p.Gly1676Arg) http://identifiers.org/clinvar/347514 ^@ NM_152618.2(BBS12):c.*828A>C http://identifiers.org/clinvar/347664 ^@ NM_172250.2(MMAA):c.*3356delA http://identifiers.org/clinvar/347864 ^@ NM_004744.4(LRAT):c.*1281C>A http://identifiers.org/clinvar/347914 ^@ NM_000824.4(GLRB):c.-16A>T http://identifiers.org/clinvar/347964 ^@ NM_006017.2(PROM1):c.*1070A>G http://identifiers.org/clinvar/348414 ^@ NM_133330.2(NSD2):c.-59A>G http://identifiers.org/clinvar/358181 ^@ NM_183050.3(BCKDHB):c.*466G>T http://identifiers.org/clinvar/358531 ^@ NM_000111.2(SLC26A3):c.*205G>C http://identifiers.org/clinvar/358581 ^@ NM_000108.4(DLD):c.*648G>A http://identifiers.org/clinvar/362369 ^@ NM_177924.4(ASAH1):c.*176_*177delCT http://identifiers.org/clinvar/358631 ^@ NM_014491.3(FOXP2):c.*515A>T http://identifiers.org/clinvar/362469 ^@ NM_005144.4(HR):c.*180G>A http://identifiers.org/clinvar/362519 ^@ NM_005144.4(HR):c.1360A>G (p.Ile454Val) http://identifiers.org/clinvar/358681 ^@ NM_001127500.2(MET):c.-64G>T http://identifiers.org/clinvar/358881 ^@ NM_000883.3(IMPDH1):c.-59G>A http://identifiers.org/clinvar/362669 ^@ NM_000742.3(CHRNA2):c.*1395C>A http://identifiers.org/clinvar/362719 ^@ NM_000742.3(CHRNA2):c.-578_-575delATGT http://identifiers.org/clinvar/362769 ^@ NM_001017420.2(ESCO2):c.*534C>T http://identifiers.org/clinvar/362869 ^@ NM_023110.2(FGFR1):c.*1286C>T http://identifiers.org/clinvar/362969 ^@ NM_000037.3(ANK1):c.*774A>G http://identifiers.org/clinvar/363219 ^@ NM_005914.3(MCM4):c.715A>G (p.Met239Val) http://identifiers.org/clinvar/363519 ^@ NM_024596.4(MCPH1):c.285T>C (p.Asn95=) http://identifiers.org/clinvar/359670 ^@ NM_001277115.1(DNAH11):c.9966A>G (p.Gln3322=) http://identifiers.org/clinvar/359770 ^@ NM_032581.3(FAM126A):c.1480G>A (p.Val494Ile) http://identifiers.org/clinvar/359970 ^@ NM_005522.4(HOXA1):c.165G>A (p.Val55=) http://identifiers.org/clinvar/360120 ^@ NM_133468.4(BMPER):c.*11G>A http://identifiers.org/clinvar/360220 ^@ NM_000168.5(GLI3):c.4590C>T (p.Asn1530=) http://identifiers.org/clinvar/360270 ^@ NM_000290.3(PGAM2):c.726C>T (p.Ala242=) http://identifiers.org/clinvar/360320 ^@ NM_014855.2(AP5Z1):c.881G>A (p.Arg294Gln) http://identifiers.org/clinvar/360370 ^@ NM_014855.2(AP5Z1):c.*922C>T http://identifiers.org/clinvar/364558 ^@ NM_003640.4(IKBKAP):c.3474C>T (p.Pro1158=) http://identifiers.org/clinvar/364608 ^@ NM_005592.3(MUSK):c.1291G>A (p.Val431Met) http://identifiers.org/clinvar/360470 ^@ NM_005228.4(EGFR):c.3162+7A>G http://identifiers.org/clinvar/364908 ^@ NM_002316.3(LMX1B):c.*574C>T http://identifiers.org/clinvar/365108 ^@ NM_000118.3(ENG):c.-343C>T http://identifiers.org/clinvar/360920 ^@ NM_000466.2(PEX1):c.2718+3A>G http://identifiers.org/clinvar/365558 ^@ NM_139025.4(ADAMTS13):c.2935delC (p.Arg979Glyfs) http://identifiers.org/clinvar/365608 ^@ NM_014694.3(ADAMTSL2):c.2518G>C (p.Ala840Pro) http://identifiers.org/clinvar/365658 ^@ NM_000787.3(DBH):c.1139G>A (p.Arg380Gln) http://identifiers.org/clinvar/365708 ^@ NM_000093.4(COL5A1):c.787-9C>T http://identifiers.org/clinvar/365808 ^@ NM_014564.4(LHX3):c.*357G>A http://identifiers.org/clinvar/366109 ^@ NM_144966.5(FREM1):c.5814T>A (p.Val1938=) http://identifiers.org/clinvar/311109 ^@ NM_001846.3(COL4A2):c.684+8G>A http://identifiers.org/clinvar/303200 ^@ NM_018400.3(SCN3B):c.-249G>T http://identifiers.org/clinvar/311209 ^@ NM_001846.3(COL4A2):c.*557A>G http://identifiers.org/clinvar/311409 ^@ NM_002010.2(FGF9):c.-429G>A http://identifiers.org/clinvar/311459 ^@ NM_002010.2(FGF9):c.*1604C>G http://identifiers.org/clinvar/303500 ^@ NM_016952.4(CDON):c.2279G>A (p.Arg760Gln) http://identifiers.org/clinvar/303650 ^@ NM_000890.3(KCNJ5):c.*901_*905delGTTTT http://identifiers.org/clinvar/303850 ^@ NM_181507.1(HPS5):c.*960T>A http://identifiers.org/clinvar/303950 ^@ NM_003476.4(CSRP3):c.*159C>T http://identifiers.org/clinvar/312198 ^@ NM_014252.3(SLC25A15):c.*1319G>C http://identifiers.org/clinvar/312248 ^@ NM_003701.3(TNFSF11):c.*704G>A http://identifiers.org/clinvar/298622 ^@ NM_000102.3(CYP17A1):c.628A>G (p.Ser210Gly) http://identifiers.org/clinvar/312348 ^@ NM_000053.3(ATP7B):c.*1592T>C http://identifiers.org/clinvar/312548 ^@ NM_005708.4(GPC6):c.1248G>A (p.Thr416=) http://identifiers.org/clinvar/312648 ^@ NM_001376.4(DYNC1H1):c.10754+11G>A http://identifiers.org/clinvar/312698 ^@ NM_022489.3(INF2):c.2009A>G (p.Glu670Gly) http://identifiers.org/clinvar/312798 ^@ NM_020366.3(RPGRIP1):c.3064C>T (p.Leu1022Phe) http://identifiers.org/clinvar/298522 ^@ NM_022039.3(FBXW4):c.*606A>C http://identifiers.org/clinvar/312948 ^@ NM_001099274.1(TINF2):c.1074T>C (p.Asp358=) http://identifiers.org/clinvar/298972 ^@ NM_004281.3(BAG3):c.*402T>C http://identifiers.org/clinvar/298572 ^@ NM_016169.3(SUFU):c.528C>T (p.His176=) http://identifiers.org/clinvar/299072 ^@ NM_001609.3(ACADSB):c.168A>G (p.Thr56=) http://identifiers.org/clinvar/313148 ^@ NM_001079668.2(NKX2-1):c.-71C>A http://identifiers.org/clinvar/313198 ^@ NM_020937.3(FANCM):c.1539A>G (p.Ser513=) http://identifiers.org/clinvar/299122 ^@ NM_001609.3(ACADSB):c.*1942C>T http://identifiers.org/clinvar/313398 ^@ NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) http://identifiers.org/clinvar/299422 ^@ NM_001081.3(CUBN):c.7533A>C (p.Ile2511=) http://identifiers.org/clinvar/299472 ^@ NM_001081.3(CUBN):c.5076C>T (p.Leu1692=) http://identifiers.org/clinvar/299222 ^@ NM_021980.4(OPTN):c.1569G>A (p.Ala523=) http://identifiers.org/clinvar/299322 ^@ NM_001033855.2(DCLRE1C):c.169G>T (p.Val57Phe) http://identifiers.org/clinvar/305641 ^@ NM_145200.3(CABP4):c.194A>G (p.Glu65Gly) http://identifiers.org/clinvar/305841 ^@ NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) http://identifiers.org/clinvar/314987 ^@ NM_004239.4(TRIP11):c.-265C>A http://identifiers.org/clinvar/315287 ^@ NM_139057.3(ADAMTS17):c.1682C>T (p.Thr561Met) http://identifiers.org/clinvar/315387 ^@ NM_144599.4(NIPA1):c.*2058_*2059insTT http://identifiers.org/clinvar/315437 ^@ NM_022807.4(SNRPN):c.-504-12T>C http://identifiers.org/clinvar/315837 ^@ NM_002225.3(IVD):c.*3036delA http://identifiers.org/clinvar/309754 ^@ NM_001173467.2(SP7):c.*799G>C http://identifiers.org/clinvar/317677 ^@ NM_000246.3(CIITA):c.225C>T (p.Cys75=) http://identifiers.org/clinvar/311259 ^@ NM_000131.4(F7):c.*1146A>G http://identifiers.org/clinvar/311309 ^@ NM_021954.3(GJA3):c.*1239C>G http://identifiers.org/clinvar/317977 ^@ NM_014714.3(IFT140):c.*226T>G http://identifiers.org/clinvar/318129 ^@ NM_001143979.1(NDE1):c.*898delA http://identifiers.org/clinvar/310104 ^@ NM_001065.3(TNFRSF1A):c.*38C>T http://identifiers.org/clinvar/330149 ^@ NM_024075.4(TSEN34):c.*1078delA http://identifiers.org/clinvar/310304 ^@ NM_021150.3(GRIP1):c.2127G>A (p.Ser709=) http://identifiers.org/clinvar/318629 ^@ NM_020705.2(TBC1D24):c.*433C>T http://identifiers.org/clinvar/310404 ^@ NM_001131025.1(PEX5):c.-519T>C http://identifiers.org/clinvar/330299 ^@ NM_000064.3(C3):c.2799G>A (p.Pro933=) http://identifiers.org/clinvar/310454 ^@ NM_001131025.1(PEX5):c.*891A>G http://identifiers.org/clinvar/330349 ^@ NM_000208.3(INSR):c.*4422G>T http://identifiers.org/clinvar/310504 ^@ NM_024685.3(BBS10):c.-71C>T http://identifiers.org/clinvar/312298 ^@ NM_000321.2(RB1):c.*162T>G http://identifiers.org/clinvar/310709 ^@ NM_002108.3(HAL):c.1353+13A>G http://identifiers.org/clinvar/310759 ^@ NM_003276.2(TMPO):c.-52C>T http://identifiers.org/clinvar/312398 ^@ NM_000053.3(ATP7B):c.670A>T (p.Ile224Phe) http://identifiers.org/clinvar/310909 ^@ NM_000123.3(ERCC5):c.-74G>A http://identifiers.org/clinvar/312498 ^@ NM_052910.2(SLITRK1):c.1969T>C (p.Ser657Pro) http://identifiers.org/clinvar/311159 ^@ NM_001846.3(COL4A2):c.3332C>T (p.Thr1111Ile) http://identifiers.org/clinvar/312848 ^@ NM_002471.3(MYH6):c.4999G>A (p.Asp1667Asn) http://identifiers.org/clinvar/338936 ^@ NM_004738.4(VAPB):c.*348C>T http://identifiers.org/clinvar/338986 ^@ NM_004738.4(VAPB):c.*4072C>T http://identifiers.org/clinvar/313298 ^@ NM_015915.4(ATL1):c.669C>T (p.Tyr223=) http://identifiers.org/clinvar/339186 ^@ NM_017671.4(FERMT1):c.*1155T>C http://identifiers.org/clinvar/339686 ^@ NM_178817.3(MRAP):c.508T>A (p.Leu170Met) http://identifiers.org/clinvar/339736 ^@ NM_000219.5(KCNE1):c.*1859G>A http://identifiers.org/clinvar/340086 ^@ NM_000071.2(CBS):c.612G>T (p.Val204=) http://identifiers.org/clinvar/321583 ^@ NM_000833.4(GRIN2A):c.*1212C>T http://identifiers.org/clinvar/340186 ^@ NM_000211.4(ITGB2):c.-10A>C http://identifiers.org/clinvar/312448 ^@ NM_000115.4(EDNRB):c.*2165C>T http://identifiers.org/clinvar/321833 ^@ NM_001303.3(COX10):c.*739A>G http://identifiers.org/clinvar/342126 ^@ NM_005138.2(SCO2):c.237G>A (p.Arg79=) http://identifiers.org/clinvar/342176 ^@ NM_005198.4(CHKB):c.249C>T (p.Phe83=) http://identifiers.org/clinvar/328310 ^@ NM_006563.4(KLF1):c.*254C>T http://identifiers.org/clinvar/328460 ^@ NM_173483.3(CYP4F22):c.*812T>G http://identifiers.org/clinvar/328510 ^@ NM_000215.3(JAK3):c.1787-11dupC http://identifiers.org/clinvar/328660 ^@ NM_001031726.3(C19orf12):c.*3417C>T http://identifiers.org/clinvar/368137 ^@ NM_171998.3(RAB39B):c.*1347C>T http://identifiers.org/clinvar/368237 ^@ NM_004006.2(DMD):c.6912+7C>T http://identifiers.org/clinvar/329060 ^@ NM_000540.2(RYR1):c.7344T>C (p.Gly2448=) http://identifiers.org/clinvar/368337 ^@ NM_003334.3(UBA1):c.1486G>A (p.Glu496Lys) http://identifiers.org/clinvar/368387 ^@ NM_153380.3(ZNF41):c.-420C>G http://identifiers.org/clinvar/329210 ^@ NM_017827.3(SARS2):c.1347+10G>A http://identifiers.org/clinvar/329160 ^@ NM_033064.4(ATCAY):c.*441G>A http://identifiers.org/clinvar/328110 ^@ NM_000527.4(LDLR):c.*1831T>A http://identifiers.org/clinvar/328260 ^@ NM_000528.3(MAN2B1):c.2310C>T (p.Pro770=) http://identifiers.org/clinvar/330199 ^@ NM_000363.4(TNNI3):c.283-9C>T http://identifiers.org/clinvar/330249 ^@ NM_006087.3(TUBB4A):c.*700T>A http://identifiers.org/clinvar/328360 ^@ NM_000435.2(NOTCH3):c.*808G>A http://identifiers.org/clinvar/328560 ^@ NM_000453.2(SLC5A5):c.*339C>T http://identifiers.org/clinvar/328710 ^@ NM_001031726.3(C19orf12):c.*1021dupA http://identifiers.org/clinvar/328760 ^@ NM_014270.4(SLC7A9):c.478+10T>C http://identifiers.org/clinvar/328860 ^@ NM_004646.3(NPHS1):c.2916G>T (p.Arg972Ser) http://identifiers.org/clinvar/329110 ^@ NM_000540.2(RYR1):c.11735T>A (p.Ile3912Asn) http://identifiers.org/clinvar/339036 ^@ NM_001001433.2(STX16):c.-464G>A http://identifiers.org/clinvar/329949 ^@ NM_024729.3(MYH14):c.5476C>T (p.Arg1826Cys) http://identifiers.org/clinvar/339136 ^@ NM_207034.2(EDN3):c.*144C>T http://identifiers.org/clinvar/330099 ^@ NM_015629.3(PRPF31):c.697+10C>T http://identifiers.org/clinvar/339336 ^@ NM_172107.3(KCNQ2):c.691-5C>T http://identifiers.org/clinvar/339486 ^@ NM_012469.3(PRPF6):c.2546+15C>T http://identifiers.org/clinvar/339536 ^@ NM_015192.3(PLCB1):c.*1551A>G http://identifiers.org/clinvar/339636 ^@ NM_000484.3(APP):c.1614T>C (p.Tyr538=) http://identifiers.org/clinvar/339836 ^@ NM_001754.4(RUNX1):c.*2217dupT http://identifiers.org/clinvar/339886 ^@ NM_144492.2(CLDN14):c.587C>T (p.Ala196Val) http://identifiers.org/clinvar/337996 ^@ NM_001042472.2(ABHD12):c.334A>T (p.Ile112Phe) http://identifiers.org/clinvar/340136 ^@ NM_000211.4(ITGB2):c.*56_*59dupGCCG http://identifiers.org/clinvar/339086 ^@ NM_001001433.2(STX16):c.*1899C>T http://identifiers.org/clinvar/341126 ^@ NM_000268.3(NF2):c.*2007delT http://identifiers.org/clinvar/339236 ^@ NM_017671.4(FERMT1):c.52G>A (p.Val18Ile) http://identifiers.org/clinvar/339286 ^@ NM_001853.3(COL9A3):c.1242C>T (p.Pro414=) http://identifiers.org/clinvar/339386 ^@ NM_025219.2(DNAJC5):c.*1303C>T http://identifiers.org/clinvar/339436 ^@ NM_025219.2(DNAJC5):c.*4007G>C http://identifiers.org/clinvar/339586 ^@ NM_000933.3(PLCB4):c.2900A>G (p.Gln967Arg) http://identifiers.org/clinvar/339936 ^@ NM_000411.6(HLCS):c.*1725A>G http://identifiers.org/clinvar/339986 ^@ NM_020639.2(RIPK4):c.*1248C>T http://identifiers.org/clinvar/341976 ^@ NM_006953.3(UPK3A):c.418G>A (p.Gly140Arg) http://identifiers.org/clinvar/340036 ^@ NM_020639.2(RIPK4):c.159G>A (p.Ser53=) http://identifiers.org/clinvar/385888 ^@ NM_001458.4(FLNC):c.352+8C>G http://identifiers.org/clinvar/379340 ^@ NM_203447.3(DOCK8):c.1422+17C>T http://identifiers.org/clinvar/391816 ^@ NM_012330.3(KAT6B):c.3021+1G>T http://identifiers.org/clinvar/382796 ^@ NM_203447.3(DOCK8):c.5355+6C>T http://identifiers.org/clinvar/388727 ^@ NM_001497.3(B4GALT1):c.84C>T (p.Ala28=) http://identifiers.org/clinvar/383096 ^@ NM_032634.3(PIGO):c.2432G>A (p.Arg811Gln) http://identifiers.org/clinvar/386788 ^@ NM_031418.3(ANO3):c.613A>G (p.Ile205Val) http://identifiers.org/clinvar/390766 ^@ NM_014846.3(WASHC5):c.2829G>A (p.Ala943=) http://identifiers.org/clinvar/386388 ^@ NM_032667.6(BSCL2):c.678G>C (p.Leu226=) http://identifiers.org/clinvar/382846 ^@ NM_001613.2(ACTA2):c.991-6T>C http://identifiers.org/clinvar/389427 ^@ NM_000445.4(PLEC):c.669C>T (p.Ile223=) http://identifiers.org/clinvar/378990 ^@ NM_000051.3(ATM):c.5787T>C (p.Asn1929=) http://identifiers.org/clinvar/379640 ^@ NM_024790.6(CSPP1):c.98+19C>G http://identifiers.org/clinvar/389377 ^@ NM_000051.3(ATM):c.6003A>G (p.Leu2001=) http://identifiers.org/clinvar/377891 ^@ NM_016725.2(FOLR1):c.81A>C (p.Ala27=) http://identifiers.org/clinvar/379240 ^@ NM_000899.4(KITLG):c.108T>A (p.Asn36Lys) http://identifiers.org/clinvar/383497 ^@ NM_024537.3(CARS2):c.586G>A (p.Asp196Asn) http://identifiers.org/clinvar/379540 ^@ NM_000059.3(BRCA2):c.4226T>A (p.Leu1409Ter) http://identifiers.org/clinvar/379690 ^@ NM_170665.3(ATP2A2):c.1096-16C>T http://identifiers.org/clinvar/377691 ^@ NM_006493.2(CLN5):c.564C>T (p.Phe188=) http://identifiers.org/clinvar/390816 ^@ NM_006231.3(POLE):c.5397C>T (p.Val1799=) http://identifiers.org/clinvar/391416 ^@ NM_001759.3(CCND2):c.597G>A (p.Pro199=) http://identifiers.org/clinvar/386338 ^@ NM_000257.3(MYH7):c.300G>A (p.Ala100=) http://identifiers.org/clinvar/388877 ^@ NM_032901.3(COX14):c.-9+15A>G http://identifiers.org/clinvar/377841 ^@ NM_000136.2(FANCC):c.501T>C (p.Asn167=) http://identifiers.org/clinvar/390616 ^@ NM_000136.2(FANCC):c.270A>C (p.Leu90=) http://identifiers.org/clinvar/385988 ^@ NM_014254.2(TMEM5):c.744-18G>A http://identifiers.org/clinvar/379840 ^@ NM_014191.3(SCN8A):c.5472C>G (p.Pro1824=) http://identifiers.org/clinvar/391616 ^@ NM_000138.4(FBN1):c.379G>C (p.Gly127Arg) http://identifiers.org/clinvar/386188 ^@ NM_001376.4(DYNC1H1):c.6405+14G>A http://identifiers.org/clinvar/391366 ^@ NM_000051.3(ATM):c.6007-8G>A http://identifiers.org/clinvar/391116 ^@ NM_000218.2(KCNQ1):c.922-18C>T http://identifiers.org/clinvar/378940 ^@ NM_000256.3(MYBPC3):c.1458-5G>A http://identifiers.org/clinvar/382596 ^@ NM_005609.3(PYGM):c.-15C>T http://identifiers.org/clinvar/386438 ^@ NM_153603.3(COG7):c.319-11G>A http://identifiers.org/clinvar/379590 ^@ NM_000138.4(FBN1):c.1011C>A (p.Tyr337Ter) http://identifiers.org/clinvar/387088 ^@ NM_021098.2(CACNA1H):c.3646G>A (p.Asp1216Asn) http://identifiers.org/clinvar/391866 ^@ NM_001127464.2(ZNF469):c.3150C>T (p.Leu1050=) http://identifiers.org/clinvar/379290 ^@ NM_001171.5(ABCC6):c.1799G>C (p.Arg600Pro) http://identifiers.org/clinvar/382546 ^@ NM_000833.4(GRIN2A):c.1629C>T (p.Thr543=) http://identifiers.org/clinvar/378790 ^@ NM_000548.4(TSC2):c.4533C>T (p.Gly1511=) http://identifiers.org/clinvar/47453 ^@ NM_133378.4(TTN):c.78725T>C (p.Leu26242Pro) http://identifiers.org/clinvar/47503 ^@ NM_133378.4(TTN):c.83264G>A (p.Arg27755Lys) http://identifiers.org/clinvar/47803 ^@ NM_001256850.1(TTN):c.10361-3971G>C http://identifiers.org/clinvar/47853 ^@ NM_138632.2(TRIOBP):c.1259A>G (p.Lys420Arg) http://identifiers.org/clinvar/47903 ^@ NM_144573.3(NEXN):c.299-14delT http://identifiers.org/clinvar/47953 ^@ NM_144672.3(OTOA):c.2238G>A (p.Thr746=) http://identifiers.org/clinvar/48005 ^@ NM_005709.3(USH1C):c.1588G>A (p.Gly530Arg) http://identifiers.org/clinvar/48055 ^@ NM_170707.3(LMNA):c.1911C>T (p.Phe637=) http://identifiers.org/clinvar/48105 ^@ NM_000503.5(EYA1):c.1699-3C>T http://identifiers.org/clinvar/48155 ^@ NM_178335.2(CCDC50):c.50-4C>G http://identifiers.org/clinvar/48205 ^@ NM_194248.2(OTOF):c.2703G>A (p.Ser901=) http://identifiers.org/clinvar/48255 ^@ NM_194248.2(OTOF):c.514G>A (p.Gly172Arg) http://identifiers.org/clinvar/48305 ^@ NM_000335.4(SCN5A):c.5006T>C (p.Ile1669Thr) http://identifiers.org/clinvar/48356 ^@ NM_206933.2(USH2A):c.10724G>A (p.Cys3575Tyr) http://identifiers.org/clinvar/48406 ^@ NM_206933.2(USH2A):c.12739G>A (p.Gly4247Arg) http://identifiers.org/clinvar/48456 ^@ NM_206933.2(USH2A):c.15102C>T (p.Ser5034=) http://identifiers.org/clinvar/48507 ^@ NM_206933.2(USH2A):c.373G>A (p.Ala125Thr) http://identifiers.org/clinvar/251 ^@ NM_000398.6(CYB5R3):c.766_768delGAG (p.Glu256del) http://identifiers.org/clinvar/265 ^@ NM_178452.5(DNAAF1):c.792C>A (p.Tyr264Ter) http://identifiers.org/clinvar/311 ^@ NM_000552.4(VWF):c.3854C>T (p.Ser1285Phe) http://identifiers.org/clinvar/344 ^@ NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) http://identifiers.org/clinvar/458 ^@ NM_000097.5(CPOX):c.85C>T (p.Gln29Ter) http://identifiers.org/clinvar/517 ^@ LMBRD1, 2-BP DEL, 515AC http://identifiers.org/clinvar/595 ^@ NM_000277.1(PAH):c.1068C>G (p.Tyr356Ter) http://identifiers.org/clinvar/708 ^@ NM_000512.4(GALNS):c.901G>T (p.Gly301Cys) http://identifiers.org/clinvar/731 ^@ ZNF469, 1-BP DEL, 9527G http://identifiers.org/clinvar/740 ^@ NM_203395.2(IYD):c.658G>A (p.Ala220Thr) http://identifiers.org/clinvar/941 ^@ NM_000404.3(GLB1):c.1051C>T (p.Arg351Ter) http://identifiers.org/clinvar/969 ^@ NM_181714.3(LCA5):c.-1688_-298+207del1598 http://identifiers.org/clinvar/978 ^@ NM_032322.3(RNF135):c.857G>A (p.Arg286His) http://identifiers.org/clinvar/1046 ^@ NM_015311.2(OBSL1):c.1149C>A (p.Cys383Ter) http://identifiers.org/clinvar/1123 ^@ SLC35D1, 1-BP DEL, 125A http://identifiers.org/clinvar/1132 ^@ NM_014908.3(DOLK):c.1322A>C (p.Tyr441Ser) http://identifiers.org/clinvar/2558 ^@ NM_024079.4(ALG8):c.413delC (p.Thr138Lysfs) http://identifiers.org/clinvar/2603 ^@ NM_058172.5(ANTXR2):c.566T>C (p.Ile189Thr) http://identifiers.org/clinvar/2695 ^@ NM_017436.5(A4GALT):c.560G>A (p.Gly187Asp) http://identifiers.org/clinvar/2741 ^@ NM_004183.3(BEST1):c.598C>T (p.Arg200Ter) http://identifiers.org/clinvar/2787 ^@ GBE1, 253-BP DEL http://identifiers.org/clinvar/2831 ^@ R9AP, 1-BP INS, 194C http://identifiers.org/clinvar/2877 ^@ NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) http://identifiers.org/clinvar/2922 ^@ NM_001033503.2(SAR1B):c.109G>A (p.Gly37Arg) http://identifiers.org/clinvar/2968 ^@ NM_000271.4(NPC1):c.2873G>A (p.Arg958Gln) http://identifiers.org/clinvar/3012 ^@ NM_133497.3(KCNV2):c.1376G>A (p.Gly459Asp) http://identifiers.org/clinvar/3062 ^@ NM_000487.5(ARSA):c.292_293delTCinsCT (p.Ser98Leu) http://identifiers.org/clinvar/3161 ^@ NM_153000.4(APCDD1):c.26T>G (p.Leu9Arg) http://identifiers.org/clinvar/3207 ^@ NM_006731.2(FKTN):c.1363delG (p.Asp455Metfs) http://identifiers.org/clinvar/3256 ^@ NM_016616.4(NME8):c.1277T>A (p.Leu426Ter) http://identifiers.org/clinvar/3300 ^@ NM_000268.3(NF2):c.205_211delAAGGACA (p.Lys69Glnfs) http://identifiers.org/clinvar/3346 ^@ NM_000348.3(SRD5A2):c.692A>G (p.His231Arg) http://identifiers.org/clinvar/10505 ^@ NM_020061.5(OPN1LW):c.607T>C (p.Cys203Arg) http://identifiers.org/clinvar/10551 ^@ NM_006915.2(RP2):c.358C>T (p.Arg120Ter) http://identifiers.org/clinvar/10597 ^@ F9, IVS6DS, G-T http://identifiers.org/clinvar/10641 ^@ NM_000133.3(F9):c.907C>T (p.His303Tyr) http://identifiers.org/clinvar/10688 ^@ NM_000266.3(NDP):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/10732 ^@ NM_000169.2(GLA):c.680G>A (p.Arg227Gln) http://identifiers.org/clinvar/10778 ^@ NM_003916.4(AP1S2):c.154C>T (p.Arg52Ter) http://identifiers.org/clinvar/10822 ^@ NM_000444.5(PHEX):c.1699C>T (p.Arg567Ter) http://identifiers.org/clinvar/10868 ^@ FANCB, 1-BP DEL, 1650T http://identifiers.org/clinvar/10913 ^@ NM_001123383.1(BCOR):c.2926C>T (p.Arg976Ter) http://identifiers.org/clinvar/10959 ^@ NM_000475.4(NR0B1):c.813C>G (p.Tyr271Ter) http://identifiers.org/clinvar/11003 ^@ NM_000531.5(OTC):c.484G>A (p.Gly162Arg) http://identifiers.org/clinvar/11049 ^@ NM_015185.2(ARHGEF9):c.164G>C (p.Gly55Ala) http://identifiers.org/clinvar/11094 ^@ PLP1, IVS6DS, G-T, +3 http://identifiers.org/clinvar/11139 ^@ NM_182680.1(AMELX):c.473delC (p.Pro158Hisfs) http://identifiers.org/clinvar/11185 ^@ NM_002621.2(CFP):c.1240T>G (p.Tyr414Asp) http://identifiers.org/clinvar/11275 ^@ DMD, IVS70, G-T, +5 http://identifiers.org/clinvar/11366 ^@ NM_000061.2(BTK):c.862C>T (p.Arg288Trp) http://identifiers.org/clinvar/11473 ^@ NM_005448.2(BMP15):c.631C>T (p.Gln211Ter) http://identifiers.org/clinvar/11525 ^@ NM_000047.2(ARSE):c.410G>T (p.Gly137Val) http://identifiers.org/clinvar/11575 ^@ NM_004299.4(ABCB7):c.1300G>A (p.Glu434Lys) http://identifiers.org/clinvar/11625 ^@ NM_004595.4(SMS):c.395T>G (p.Val132Gly) http://identifiers.org/clinvar/11675 ^@ NM_006306.3(SMC1A):c.1487G>A (p.Arg496His) http://identifiers.org/clinvar/11726 ^@ NM_000489.4(ATRX):c.6250T>C (p.Tyr2084His) http://identifiers.org/clinvar/11778 ^@ NM_001110556.1(FLNA):c.2132T>A (p.Val711Asp) http://identifiers.org/clinvar/11828 ^@ NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) http://identifiers.org/clinvar/11878 ^@ NM_002769.4(PRSS1):c.68A>G (p.Lys23Arg) http://identifiers.org/clinvar/11928 ^@ NM_000431.3(MVK):c.902A>C (p.Asn301Thr) http://identifiers.org/clinvar/11978 ^@ NM_000481.3(AMT):c.826G>C (p.Asp276His) http://identifiers.org/clinvar/12030 ^@ NM_004453.3(ETFDH):c.380T>A (p.Leu127His) http://identifiers.org/clinvar/12080 ^@ NM_000131.4(F7):c.1238G>A (p.Arg413Gln) http://identifiers.org/clinvar/12130 ^@ NM_000063.5(C2):c.954G>C (p.Glu318Asp) http://identifiers.org/clinvar/12183 ^@ NM_000500.7(CYP21A2):c.188A>T (p.His63Leu) http://identifiers.org/clinvar/12236 ^@ CDH1, 1-BP INS, 2382C http://identifiers.org/clinvar/12286 ^@ NM_000463.2(UGT1A1):c.1198A>G (p.Asn400Asp) http://identifiers.org/clinvar/38360 ^@ NM_002529.3(NTRK1):c.25C>T (p.Gln9Ter) http://identifiers.org/clinvar/12338 ^@ NM_001065.3(TNFRSF1A):c.242G>T (p.Cys81Phe) http://identifiers.org/clinvar/12389 ^@ NM_000594.3(TNF):c.-1037C>T http://identifiers.org/clinvar/12441 ^@ NM_003280.2(TNNC1):c.476G>A (p.Gly159Asp) http://identifiers.org/clinvar/12491 ^@ NM_000359.2(TGM1):c.1469A>G (p.Asp490Gly) http://identifiers.org/clinvar/12541 ^@ NM_001128177.1(THRB):c.964G>C (p.Asp322His) http://identifiers.org/clinvar/12591 ^@ NM_004985.4(KRAS):c.455T>G (p.Val152Gly) http://identifiers.org/clinvar/12642 ^@ HNF1B, 1-BP INS, 1055A http://identifiers.org/clinvar/12693 ^@ NM_003235.4(TG):c.3733T>C (p.Cys1245Arg) http://identifiers.org/clinvar/12744 ^@ NM_000733.3(CD3E):c.520+2T>C http://identifiers.org/clinvar/13497 ^@ NM_002693.2(POLG):c.911T>G (p.Leu304Arg) http://identifiers.org/clinvar/13547 ^@ NM_006206.4(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) http://identifiers.org/clinvar/242687 ^@ NM_000570.4(FCGR3B):c.316A= (p.Ile106=) http://identifiers.org/clinvar/38305 ^@ NM_000168.5(GLI3):c.2062G>T (p.Glu688Ter) http://identifiers.org/clinvar/38417 ^@ NM_024312.4(GNPTAB):c.2051_2055delACTCA (p.Ser685Lysfs) http://identifiers.org/clinvar/38745 ^@ NM_000495.3(COL4A5):c.1-?_5058+?del http://identifiers.org/clinvar/38795 ^@ NM_003060.3(SLC22A5):c.148delT (p.Cys50Alafs) http://identifiers.org/clinvar/38919 ^@ NM_001099274.1(TINF2):c.847C>G (p.Pro283Ala) http://identifiers.org/clinvar/38969 ^@ NM_003722.4(TP63):c.518G>A (p.Gly173Asp) http://identifiers.org/clinvar/39021 ^@ NM_024312.4(GNPTAB):c.1090C>T (p.Arg364Ter) http://identifiers.org/clinvar/39071 ^@ NM_024312.4(GNPTAB):c.3410T>A (p.Leu1137Ter) http://identifiers.org/clinvar/39128 ^@ NM_198578.3(LRRK2):c.1000G>A (p.Glu334Lys) http://identifiers.org/clinvar/39178 ^@ NM_198578.3(LRRK2):c.4193G>A (p.Arg1398His) http://identifiers.org/clinvar/39228 ^@ NM_198578.3(LRRK2):c.6510C>A (p.Gly2170=) http://identifiers.org/clinvar/39279 ^@ NR_001566.1(TERC):n.-240_-239del http://identifiers.org/clinvar/39441 ^@ NM_198506.4(LRIT3):c.1538_1539delCT (p.Ser513Cysfs) http://identifiers.org/clinvar/39493 ^@ NM_004826.3(ECEL1):c.590G>A (p.Gly197Asp) http://identifiers.org/clinvar/39543 ^@ NM_001139.2(ALOX12B):c.1207C>T (p.His403Tyr) http://identifiers.org/clinvar/39593 ^@ NM_020822.2(KCNT1):c.1283G>A (p.Arg428Gln) http://identifiers.org/clinvar/39645 ^@ NM_004670.3(PAPSS2):c.477_480dupCGTA (p.Lys161Argfs) http://identifiers.org/clinvar/39697 ^@ DNAJB2, IVS5DS, G-A, +1 http://identifiers.org/clinvar/39747 ^@ NM_014014.4(SNRNP200):c.2653C>G (p.Gln885Glu) http://identifiers.org/clinvar/39798 ^@ NM_012472.5(LRRC6):c.436G>C (p.Asp146His) http://identifiers.org/clinvar/39849 ^@ NM_001170961.1(IGSF1):c.2137_2163del27 (p.Ala713_Lys721del) http://identifiers.org/clinvar/40004 ^@ LTBP4, ARG1337TER http://identifiers.org/clinvar/40164 ^@ KLLN, PROMOTER HYPERMETHYLATION http://identifiers.org/clinvar/40260 ^@ NM_004655.3(AXIN2):c.1989G>A (p.Trp663Ter) http://identifiers.org/clinvar/40390 ^@ NM_004333.4(BRAF):c.1802A>T (p.Lys601Ile) http://identifiers.org/clinvar/51133 ^@ NM_000059.3(BRCA2):c.1496A>G (p.Gln499Arg) http://identifiers.org/clinvar/51184 ^@ NM_000059.3(BRCA2):c.1754delA (p.Lys585Argfs) http://identifiers.org/clinvar/51892 ^@ NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) http://identifiers.org/clinvar/51944 ^@ NM_000059.3(BRCA2):c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs) http://identifiers.org/clinvar/51996 ^@ NM_000059.3(BRCA2):c.6058G>T (p.Glu2020Ter) http://identifiers.org/clinvar/52047 ^@ NM_000059.3(BRCA2):c.6282_6289delTTCACCTA (p.Ser2095Valfs) http://identifiers.org/clinvar/52101 ^@ NM_000059.3(BRCA2):c.6445delA (p.Ile2149Leufs) http://identifiers.org/clinvar/52152 ^@ NM_000059.3(BRCA2):c.6673delA (p.Thr2225Glnfs) http://identifiers.org/clinvar/52202 ^@ NM_000059.3(BRCA2):c.6826C>T (p.Pro2276Ser) http://identifiers.org/clinvar/52253 ^@ NM_000059.3(BRCA2):c.7032dupA (p.Gln2345Thrfs) http://identifiers.org/clinvar/52304 ^@ NM_000059.3(BRCA2):c.7301A>C (p.Lys2434Thr) http://identifiers.org/clinvar/52354 ^@ NM_000059.3(BRCA2):c.755delA (p.Asp252Alafs) http://identifiers.org/clinvar/52405 ^@ NM_000059.3(BRCA2):c.7762delA (p.Ile2588Tyrfs) http://identifiers.org/clinvar/52455 ^@ NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr) http://identifiers.org/clinvar/52505 ^@ NM_000059.3(BRCA2):c.809C>G (p.Ser270Ter) http://identifiers.org/clinvar/52556 ^@ NM_000059.3(BRCA2):c.8340_8343delTAAC (p.Asn2781Valfs) http://identifiers.org/clinvar/52606 ^@ NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) http://identifiers.org/clinvar/52658 ^@ NM_000059.3(BRCA2):c.8680C>T (p.Gln2894Ter) http://identifiers.org/clinvar/52708 ^@ NM_000059.3(BRCA2):c.8953+16C>T http://identifiers.org/clinvar/52759 ^@ NM_000059.3(BRCA2):c.9118-2A>G http://identifiers.org/clinvar/52810 ^@ NM_000059.3(BRCA2):c.9307A>G (p.Ile3103Val) http://identifiers.org/clinvar/52861 ^@ NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) http://identifiers.org/clinvar/52911 ^@ NM_000059.3(BRCA2):c.9883C>T (p.Gln3295Ter) http://identifiers.org/clinvar/52961 ^@ NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) http://identifiers.org/clinvar/53011 ^@ NM_000218.2(KCNQ1):c.1710delC (p.Ser571Hisfs) http://identifiers.org/clinvar/53061 ^@ NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) http://identifiers.org/clinvar/53111 ^@ NM_000218.2(KCNQ1):c.824T>C (p.Phe275Ser) http://identifiers.org/clinvar/53163 ^@ NM_000492.3(CFTR):c.1008_1019dupATTCACCACCAT (p.Ile340_Ser341insPheThrThrIle) http://identifiers.org/clinvar/53215 ^@ NM_000492.3(CFTR):c.1209G>A (p.Glu403=) http://identifiers.org/clinvar/54675 ^@ NM_007294.3(BRCA1):c.2764_2767delACAG (p.Thr922Leufs) http://identifiers.org/clinvar/54725 ^@ NM_007294.3(BRCA1):c.2931A>G (p.Pro977=) http://identifiers.org/clinvar/54775 ^@ NM_007294.3(BRCA1):c.3140T>C (p.Val1047Ala) http://identifiers.org/clinvar/54825 ^@ NM_007294.3(BRCA1):c.329A>C (p.Lys110Thr) http://identifiers.org/clinvar/54875 ^@ NM_007294.3(BRCA1):c.3417delT (p.Ser1139Argfs) http://identifiers.org/clinvar/54925 ^@ NM_007294.3(BRCA1):c.3587C>A (p.Thr1196Lys) http://identifiers.org/clinvar/54977 ^@ NM_007294.3(BRCA1):c.3716dupC (p.Gln1240Serfs) http://identifiers.org/clinvar/55028 ^@ NM_007294.3(BRCA1):c.3848A>G (p.His1283Arg) http://identifiers.org/clinvar/55078 ^@ NM_007294.3(BRCA1):c.4032_4034delTGA (p.Asp1344del) http://identifiers.org/clinvar/55130 ^@ NM_007294.3(BRCA1):c.4185+3A>G http://identifiers.org/clinvar/55180 ^@ NM_007294.3(BRCA1):c.4357+2T>C http://identifiers.org/clinvar/55231 ^@ NM_007294.3(BRCA1):c.4579G>A (p.Glu1527Lys) http://identifiers.org/clinvar/55281 ^@ NM_007294.3(BRCA1):c.4760C>G (p.Ser1587Ter) http://identifiers.org/clinvar/55332 ^@ NM_007294.3:c.4963_4981delTGGCCTGACCCCAGAAG http://identifiers.org/clinvar/55382 ^@ NM_007294.3(BRCA1):c.5075-8T>G http://identifiers.org/clinvar/55432 ^@ NM_007294.3(BRCA1):c.5153G>A (p.Trp1718Ter) http://identifiers.org/clinvar/55482 ^@ NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro) http://identifiers.org/clinvar/55535 ^@ NM_007294.3(BRCA1):c.5333-2A>C http://identifiers.org/clinvar/55585 ^@ NM_007294.3(BRCA1):c.5456A>G (p.Asn1819Ser) http://identifiers.org/clinvar/55635 ^@ NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) http://identifiers.org/clinvar/55688 ^@ NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys) http://identifiers.org/clinvar/55739 ^@ NM_007294.3(BRCA1):c.851A>G (p.Gln284Arg) http://identifiers.org/clinvar/55806 ^@ NM_001142864.3(PIEZO1):c.7367G>A (p.Arg2456His) http://identifiers.org/clinvar/55870 ^@ NM_006012.2(CLPP):c.270+4A>G http://identifiers.org/clinvar/55946 ^@ NM_000027.3(AGA):c.404T>C (p.Phe135Ser) http://identifiers.org/clinvar/55997 ^@ NM_000111.2(SLC26A3):c.358G>A (p.Gly120Ser) http://identifiers.org/clinvar/56050 ^@ NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) http://identifiers.org/clinvar/56101 ^@ NM_000170.2(GLDC):c.605C>T (p.Ala202Val) http://identifiers.org/clinvar/56842 ^@ NM_002163.2(IRF8):c.322A>G (p.Lys108Glu) http://identifiers.org/clinvar/57019 ^@ GRCh38/hg38 6p25.3(chr6:163083-1951351)x3 http://identifiers.org/clinvar/57073 ^@ GRCh38/hg38 5q21.2-21.3(chr5:104482674-105488260)x1 http://identifiers.org/clinvar/57128 ^@ GRCh38/hg38 8q24.21(chr8:127118340-127858575)x3 http://identifiers.org/clinvar/57179 ^@ GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 http://identifiers.org/clinvar/57231 ^@ GRCh38/hg38 Xq21.33(chrX:97669841-98038562)x0 http://identifiers.org/clinvar/57284 ^@ GRCh38/hg38 8q11.21-11.23(chr8:49796560-51802072)x1 http://identifiers.org/clinvar/57337 ^@ GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 http://identifiers.org/clinvar/57390 ^@ GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1 http://identifiers.org/clinvar/126305 ^@ NM_153704.5(TMEM67):c.406+1361C>T http://identifiers.org/clinvar/126356 ^@ NM_001128849.1(SMARCA4):c.1413G>A (p.Lys471=) http://identifiers.org/clinvar/126412 ^@ NM_015474.3(SAMHD1):c.434G>A (p.Arg145Gln) http://identifiers.org/clinvar/126770 ^@ NM_024675.3(PALB2):c.765T>C (p.Asp255=) http://identifiers.org/clinvar/126821 ^@ NM_000321.2(RB1):c.795delA (p.Lys265Asnfs) http://identifiers.org/clinvar/159939 ^@ NM_006306.3(SMC1A):c.1254+11G>C http://identifiers.org/clinvar/160359 ^@ NM_000243.2(MEFV):c.1082G>C (p.Arg361Thr) http://identifiers.org/clinvar/160814 ^@ GRCh38/hg38 20p12.3(chr20:7123110-8577546)x1 http://identifiers.org/clinvar/160865 ^@ GRCh38/hg38 Xp22.31(chrX:7860124-8423970)x3 http://identifiers.org/clinvar/160918 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 http://identifiers.org/clinvar/160969 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 http://identifiers.org/clinvar/161020 ^@ GRCh38/hg38 4p16.3(chr4:72555-113701)x3 http://identifiers.org/clinvar/161070 ^@ GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3 http://identifiers.org/clinvar/161120 ^@ NM_001085372.2(UQCC3):c.59T>A (p.Val20Glu) http://identifiers.org/clinvar/161352 ^@ NM_000313.3(PROS1):c.1095T>G (p.Asn365Lys) http://identifiers.org/clinvar/161252 ^@ NM_000190.3(HMBS):c.257A>T (p.Glu86Val) http://identifiers.org/clinvar/161202 ^@ NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) http://identifiers.org/clinvar/162159 ^@ NM_001396.4(DYRK1A):c.844dupA (p.Ser282Lysfs) http://identifiers.org/clinvar/162222 ^@ NM_001987.4(ETV6):c.641C>T (p.Pro214Leu) http://identifiers.org/clinvar/162433 ^@ NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) http://identifiers.org/clinvar/162504 ^@ NM_024422.4(DSC2):c.663T>A (p.Tyr221Ter) http://identifiers.org/clinvar/162584 ^@ NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) http://identifiers.org/clinvar/163414 ^@ NM_031475.2(ESPN):c.2504G>A (p.Ser835Asn) http://identifiers.org/clinvar/163140 ^@ NM_001369.2(DNAH5):c.8387A>G (p.Asp2796Gly) http://identifiers.org/clinvar/163499 ^@ NM_021167.4(GATAD1):c.604G>A (p.Ala202Thr) http://identifiers.org/clinvar/163974 ^@ NM_001038603.2(MARVELD2):c.1461T>G (p.Asp487Glu) http://identifiers.org/clinvar/198844 ^@ NM_006516.2(SLC2A1):c.1006C>G (p.Leu336Val) http://identifiers.org/clinvar/198898 ^@ NM_021072.3(HCN1):c.2172C>T (p.Ala724=) http://identifiers.org/clinvar/198951 ^@ NM_001267550.2(TTN):c.24764A>C (p.Glu8255Ala) http://identifiers.org/clinvar/199003 ^@ NM_000272.3(NPHP1):c.940-17G>A http://identifiers.org/clinvar/199053 ^@ NM_001080463.1(DYNC2H1):c.1360+2delT http://identifiers.org/clinvar/199106 ^@ NM_005422.2(TECTA):c.2566G>T (p.Ala856Ser) http://identifiers.org/clinvar/199158 ^@ NM_020549.4(CHAT):c.1372C>T (p.Leu458Phe) http://identifiers.org/clinvar/199213 ^@ NM_000540.2(RYR1):c.13271A>C (p.Glu4424Ala) http://identifiers.org/clinvar/199434 ^@ NM_005045.3(RELN):c.2288A>G (p.Asp763Gly) http://identifiers.org/clinvar/200959 ^@ NM_170707.3(LMNA):c.859delG (p.Ala287Leufs) http://identifiers.org/clinvar/199713 ^@ NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) http://identifiers.org/clinvar/199878 ^@ NM_004415.3(DSP):c.3661A>G (p.Ile1221Val) http://identifiers.org/clinvar/199935 ^@ NM_004415.3(DSP):c.3971A>T (p.Asn1324Ile) http://identifiers.org/clinvar/200531 ^@ NM_000238.3(KCNH2):c.3305C>T (p.Thr1102Ile) http://identifiers.org/clinvar/200656 ^@ NM_000238.3(KCNH2):c.2684_2685insCC (p.Asp896Argfs) http://identifiers.org/clinvar/200765 ^@ NM_000238.3(KCNH2):c.2200C>T (p.Arg734Cys) http://identifiers.org/clinvar/200230 ^@ NM_000238.3(KCNH2):c.1956T>C (p.Tyr652=) http://identifiers.org/clinvar/200352 ^@ NM_000238.3(KCNH2):c.1520C>T (p.Pro507Leu) http://identifiers.org/clinvar/200900 ^@ NM_000218.2(KCNQ1):c.1031C>G (p.Ala344Gly) http://identifiers.org/clinvar/200844 ^@ NM_000218.2(KCNQ1):c.1142G>A (p.Cys381Tyr) http://identifiers.org/clinvar/200103 ^@ NM_000138.4(FBN1):c.7082C>G (p.Ser2361Trp) http://identifiers.org/clinvar/200163 ^@ NM_000138.4(FBN1):c.5817delG (p.Asn1940Ilefs) http://identifiers.org/clinvar/200050 ^@ NM_000138.4(FBN1):c.4561C>A (p.Pro1521Thr) http://identifiers.org/clinvar/199994 ^@ NM_000138.4(FBN1):c.2303A>C (p.Glu768Ala) http://identifiers.org/clinvar/201035 ^@ NM_002474.2(MYH11):c.4953+18C>T http://identifiers.org/clinvar/199768 ^@ NM_024422.4(DSC2):c.1521-13T>A http://identifiers.org/clinvar/199824 ^@ NM_001943.4(DSG2):c.829_840delCTTGAAGGGATG (p.Leu277_Met280del) http://identifiers.org/clinvar/201920 ^@ NM_144573.3(NEXN):c.1010T>C (p.Ile337Thr) http://identifiers.org/clinvar/202151 ^@ NM_014000.2(VCL):c.224C>T (p.Pro75Leu) http://identifiers.org/clinvar/202035 ^@ NM_004572.3(PKP2):c.1643delG (p.Gly548Valfs) http://identifiers.org/clinvar/201976 ^@ NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) http://identifiers.org/clinvar/201812 ^@ NM_002230.2(JUP):c.509C>T (p.Ser170Leu) http://identifiers.org/clinvar/201865 ^@ NM_033118.3(MYLK2):c.1173_1174delTG (p.Cys391Terfs) http://identifiers.org/clinvar/202092 ^@ NM_000116.4(TAZ):c.280C>T (p.Arg94Cys) http://identifiers.org/clinvar/242585 ^@ NM_001080522.2(CC2D2A):c.4093_4095delGAA (p.Glu1367del) http://identifiers.org/clinvar/202203 ^@ NM_000064.3(C3):c.640C>T (p.Pro214Ser) http://identifiers.org/clinvar/203097 ^@ NM_001256850.1(TTN):c.100559C>A (p.Thr33520Asn) http://identifiers.org/clinvar/203047 ^@ NM_001256850.1(TTN):c.94475A>C (p.Lys31492Thr) http://identifiers.org/clinvar/202997 ^@ NM_001256850.1(TTN):c.89038G>A (p.Val29680Ile) http://identifiers.org/clinvar/202488 ^@ NM_001256850.1(TTN):c.83780_83781delAC (p.His27927Leufs) http://identifiers.org/clinvar/202947 ^@ NM_001256850.1(TTN):c.83089C>A (p.Pro27697Thr) http://identifiers.org/clinvar/202897 ^@ NM_001256850.1(TTN):c.75251C>T (p.Ser25084Leu) http://identifiers.org/clinvar/202326 ^@ NM_001256850.1(TTN):c.69590G>C (p.Gly23197Ala) http://identifiers.org/clinvar/202847 ^@ NM_001256850.1(TTN):c.68380C>T (p.Arg22794Cys) http://identifiers.org/clinvar/202797 ^@ NM_001256850.1(TTN):c.60859C>T (p.Arg20287Trp) http://identifiers.org/clinvar/231025 ^@ NM_000038.5(APC):c.4986C>T (p.Ile1662=) http://identifiers.org/clinvar/231125 ^@ NM_000038.5(APC):c.6117G>A (p.Leu2039=) http://identifiers.org/clinvar/233365 ^@ NM_000038.5(APC):c.6213A>G (p.Ile2071Met) http://identifiers.org/clinvar/229786 ^@ NM_000038.5(APC):c.7284A>G (p.Glu2428=) http://identifiers.org/clinvar/234018 ^@ NM_005732.3(RAD50):c.822C>G (p.Ala274=) http://identifiers.org/clinvar/231475 ^@ NM_005732.3(RAD50):c.3560T>C (p.Val1187Ala) http://identifiers.org/clinvar/229686 ^@ NM_004168.3(SDHA):c.1794+3G>C http://identifiers.org/clinvar/231425 ^@ NM_000535.6(PMS2):c.475G>T (p.Val159Leu) http://identifiers.org/clinvar/229736 ^@ NM_000535.6(PMS2):c.449C>T (p.Pro150Leu) http://identifiers.org/clinvar/232275 ^@ NM_002485.4(NBN):c.1397+1_1397+9delGTCTGTTTTinsACA http://identifiers.org/clinvar/233415 ^@ NM_000314.6(PTEN):c.18A>G (p.Lys6=) http://identifiers.org/clinvar/233265 ^@ NM_000051.3(ATM):c.620C>G (p.Ser207Cys) http://identifiers.org/clinvar/233615 ^@ NM_000051.3(ATM):c.1368A>G (p.Leu456=) http://identifiers.org/clinvar/231225 ^@ NM_000051.3(ATM):c.1887C>T (p.Ser629=) http://identifiers.org/clinvar/233565 ^@ NM_000051.3(ATM):c.1998G>C (p.Val666=) http://identifiers.org/clinvar/234118 ^@ NM_000051.3(ATM):c.3886_3888delCCTinsACA (p.Pro1296Thr) http://identifiers.org/clinvar/230675 ^@ NM_000051.3(ATM):c.6252G>A (p.Leu2084=) http://identifiers.org/clinvar/233918 ^@ NM_000051.3(ATM):c.7989T>C (p.Val2663=) http://identifiers.org/clinvar/233165 ^@ NM_000051.3(ATM):c.8308T>G (p.Cys2770Gly) http://identifiers.org/clinvar/231275 ^@ NM_005591.3(MRE11):c.1861A>G (p.Ile621Val) http://identifiers.org/clinvar/231575 ^@ NM_005591.3(MRE11):c.1571C>G (p.Thr524Ser) http://identifiers.org/clinvar/232175 ^@ NM_005591.3(MRE11):c.1367A>G (p.Glu456Gly) http://identifiers.org/clinvar/231725 ^@ NM_005591.3(MRE11):c.740A>G (p.His247Arg) http://identifiers.org/clinvar/230525 ^@ NM_000059.3(BRCA2):c.205C>A (p.Pro69Thr) http://identifiers.org/clinvar/233715 ^@ NM_000059.3(BRCA2):c.1663C>A (p.Pro555Thr) http://identifiers.org/clinvar/231625 ^@ NM_000059.3(BRCA2):c.2878A>G (p.Lys960Glu) http://identifiers.org/clinvar/230975 ^@ NM_000059.3(BRCA2):c.3657T>C (p.Phe1219=) http://identifiers.org/clinvar/230575 ^@ NM_000059.3(BRCA2):c.9278delT (p.Leu3093Cysfs) http://identifiers.org/clinvar/231325 ^@ NM_000059.3(BRCA2):c.9564T>C (p.Asp3188=) http://identifiers.org/clinvar/231075 ^@ NM_000059.3(BRCA2):c.9620T>A (p.Ile3207Asn) http://identifiers.org/clinvar/230825 ^@ NM_000059.3(BRCA2):c.9795C>G (p.Cys3265Trp) http://identifiers.org/clinvar/231525 ^@ NM_000548.4(TSC2):c.3690G>A (p.Glu1230=) http://identifiers.org/clinvar/230775 ^@ NM_024675.3(PALB2):c.3225T>A (p.Ser1075Arg) http://identifiers.org/clinvar/232125 ^@ NM_024675.3(PALB2):c.2288_2291delTGAA (p.Leu763Terfs) http://identifiers.org/clinvar/231775 ^@ NM_024675.3(PALB2):c.1702C>A (p.Gln568Lys) http://identifiers.org/clinvar/231175 ^@ NM_024675.3(PALB2):c.1392G>A (p.Arg464=) http://identifiers.org/clinvar/233315 ^@ NM_024675.3(PALB2):c.619C>T (p.Pro207Ser) http://identifiers.org/clinvar/233515 ^@ NM_007294.3(BRCA1):c.1784A>G (p.Glu595Gly) http://identifiers.org/clinvar/233665 ^@ NM_007294.3(BRCA1):c.1155G>A (p.Trp385Ter) http://identifiers.org/clinvar/233868 ^@ NM_058216.2(RAD51C):c.66G>A (p.Ala22=) http://identifiers.org/clinvar/231375 ^@ NM_032043.2(BRIP1):c.2957C>G (p.Ser986Cys) http://identifiers.org/clinvar/233767 ^@ NM_000546.5(TP53):c.769C>T (p.Leu257=) http://identifiers.org/clinvar/230925 ^@ NM_000546.5(TP53):c.276C>T (p.Pro92=) http://identifiers.org/clinvar/235432 ^@ NM_020223.3(FAM20C):c.252C>A (p.Asn84Lys) http://identifiers.org/clinvar/235486 ^@ NC_012920.1:m.13488T>C http://identifiers.org/clinvar/235539 ^@ NC_012920.1:m.4218T>C http://identifiers.org/clinvar/235590 ^@ NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) http://identifiers.org/clinvar/236114 ^@ NM_000350.2(ABCA4):c.4354G>T (p.Glu1452Ter) http://identifiers.org/clinvar/236164 ^@ NM_004621.5(TRPC6):c.2010-31T>C http://identifiers.org/clinvar/236240 ^@ NM_001183.5(ATP6AP1):c.431T>C (p.Leu144Pro) http://identifiers.org/clinvar/236303 ^@ NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) http://identifiers.org/clinvar/236353 ^@ NC_000004.10:g.113593803_113967887dup374085 http://identifiers.org/clinvar/236454 ^@ NM_006343.2(MERTK):c.2180G>A (p.Arg727Gln) http://identifiers.org/clinvar/236504 ^@ NM_020366.3(RPGRIP1):c.2007delT (p.Val670Trpfs) http://identifiers.org/clinvar/239454 ^@ NM_003001.3(SDHC):c.32G>A (p.Arg11His) http://identifiers.org/clinvar/238300 ^@ NM_001103.3(ACTN2):c.2412C>T (p.Asn804=) http://identifiers.org/clinvar/238350 ^@ NM_001128425.1(MUTYH):c.576+8G>C http://identifiers.org/clinvar/238200 ^@ NM_000969.3(RPL5):c.629A>G (p.Tyr210Cys) http://identifiers.org/clinvar/254096 ^@ NM_002977.3(SCN9A):c.2271G>A (p.Met757Ile) http://identifiers.org/clinvar/238700 ^@ NM_001267550.2(TTN):c.106601C>T (p.Ala35534Val) http://identifiers.org/clinvar/238850 ^@ NM_001267550.2(TTN):c.82060G>A (p.Val27354Ile) http://identifiers.org/clinvar/238800 ^@ NM_001267550.2(TTN):c.56549T>A (p.Leu18850Gln) http://identifiers.org/clinvar/238750 ^@ NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) http://identifiers.org/clinvar/237410 ^@ NM_000251.2(MSH2):c.798A>T (p.Ala266=) http://identifiers.org/clinvar/237360 ^@ NM_000251.2(MSH2):c.1177A>C (p.Lys393Gln) http://identifiers.org/clinvar/237159 ^@ NM_000179.2(MSH6):c.251C>T (p.Ala84Val) http://identifiers.org/clinvar/237210 ^@ NM_000179.2(MSH6):c.508C>T (p.Pro170Ser) http://identifiers.org/clinvar/237310 ^@ NM_000249.3(MLH1):c.117-10G>A http://identifiers.org/clinvar/237260 ^@ NM_000222.2(KIT):c.2349C>T (p.Leu783=) http://identifiers.org/clinvar/236604 ^@ NM_000038.5(APC):c.468C>T (p.Asp156=) http://identifiers.org/clinvar/236654 ^@ NM_000038.5(APC):c.8255A>C (p.Asn2752Thr) http://identifiers.org/clinvar/238650 ^@ NM_001206927.1(DNAH8):c.4957G>A (p.Glu1653Lys) http://identifiers.org/clinvar/238900 ^@ NM_001277115.1(DNAH11):c.1397A>C (p.Lys466Thr) http://identifiers.org/clinvar/261803 ^@ NM_025074.6(FRAS1):c.1396T>A (p.Leu466Ile) http://identifiers.org/clinvar/257364 ^@ NM_001080479.2(ARHGEF28):c.2338C>A (p.His780Asn) http://identifiers.org/clinvar/262153 ^@ NM_033071.3(SYNE1):c.11209-31T>G http://identifiers.org/clinvar/262203 ^@ NM_033071.3(SYNE1):c.9186C>A (p.Ser3062=) http://identifiers.org/clinvar/262403 ^@ NM_138694.3(PKHD1):c.448+31T>C http://identifiers.org/clinvar/258353 ^@ NM_001851.4(COL9A1):c.1862A>G (p.Gln621Arg) http://identifiers.org/clinvar/256164 ^@ NM_000443.3(ABCB4):c.3487-16T>C http://identifiers.org/clinvar/262803 ^@ NM_172218.2(SPAG1):c.2715G>A (p.Ser905=) http://identifiers.org/clinvar/262753 ^@ NM_153704.5(TMEM67):c.506+48G>A http://identifiers.org/clinvar/262653 ^@ NM_152564.4(VPS13B):c.10824C>T (p.His3608=) http://identifiers.org/clinvar/262453 ^@ NM_139025.4(ADAMTS13):c.686+4T>G http://identifiers.org/clinvar/262853 ^@ NM_173551.4(ANKS6):c.585G>A (p.Leu195=) http://identifiers.org/clinvar/256264 ^@ NM_000494.3(COL17A1):c.10A>G (p.Thr4Ala) http://identifiers.org/clinvar/261553 ^@ NM_022124.5(CDH23):c.5985C>T (p.Tyr1995=) http://identifiers.org/clinvar/255814 ^@ NM_000314.6(PTEN):c.651C>T (p.Val217=) http://identifiers.org/clinvar/256814 ^@ NM_000795.3(DRD2):c.939T>C (p.His313=) http://identifiers.org/clinvar/263253 ^@ NM_199292.2(TH):c.303T>C (p.Ala101=) http://identifiers.org/clinvar/256314 ^@ NM_000506.4(F2):c.1824C>T (p.Arg608=) http://identifiers.org/clinvar/255764 ^@ NM_000289.5(PFKM):c.594-38G>A http://identifiers.org/clinvar/256664 ^@ NM_000552.4(VWF):c.3258C>T (p.Tyr1086=) http://identifiers.org/clinvar/261753 ^@ NM_024685.3(BBS10):c.1215T>G (p.Gly405=) http://identifiers.org/clinvar/261853 ^@ NM_025114.3(CEP290):c.6819-34G>T http://identifiers.org/clinvar/262253 ^@ NM_052867.2(NALCN):c.2192+5C>T http://identifiers.org/clinvar/261603 ^@ NM_022489.3(INF2):c.105C>T (p.Pro35=) http://identifiers.org/clinvar/255714 ^@ NM_000275.2(OCA2):c.1026C>T (p.Tyr342=) http://identifiers.org/clinvar/254875 ^@ NM_000070.2(CAPN3):c.499-13C>T http://identifiers.org/clinvar/263303 ^@ NM_207581.3(DUOXA2):c.341-15C>T http://identifiers.org/clinvar/332909 ^@ NM_133378.4(TTN):c.21908-4A>G http://identifiers.org/clinvar/332959 ^@ NM_133378.4(TTN):c.3522A>C (p.Glu1174Asp) http://identifiers.org/clinvar/333009 ^@ NM_201548.4(CERKL):c.735G>C (p.Leu245=) http://identifiers.org/clinvar/333059 ^@ NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) http://identifiers.org/clinvar/335200 ^@ NM_004544.3(NDUFA10):c.865C>T (p.Arg289Cys) http://identifiers.org/clinvar/332859 ^@ NM_133378.4(TTN):c.38779G>A (p.Ala12927Thr) http://identifiers.org/clinvar/335300 ^@ NM_000030.2(AGXT):c.942+14T>G http://identifiers.org/clinvar/333209 ^@ NM_000534.4(PMS1):c.1586G>A (p.Ser529Asn) http://identifiers.org/clinvar/333259 ^@ NM_007315.3(STAT1):c.*461delG http://identifiers.org/clinvar/333359 ^@ NM_001006657.1(WDR35):c.*763T>C http://identifiers.org/clinvar/336250 ^@ NM_001430.4(EPAS1):c.768C>T (p.Tyr256=) http://identifiers.org/clinvar/333159 ^@ NM_014585.5(SLC40A1):c.*289G>T http://identifiers.org/clinvar/335600 ^@ NM_001029883.2(C2orf71):c.*1601G>A http://identifiers.org/clinvar/336457 ^@ NM_000233.3(LHCGR):c.*7C>T http://identifiers.org/clinvar/335750 ^@ NM_000379.3(XDH):c.*699C>T http://identifiers.org/clinvar/335800 ^@ NM_000379.3(XDH):c.405C>T (p.Thr135=) http://identifiers.org/clinvar/336657 ^@ NM_001114636.1(FANCL):c.-39A>C http://identifiers.org/clinvar/335950 ^@ NM_000104.3(CYP1B1):c.1406G>A (p.Arg469Gln) http://identifiers.org/clinvar/333559 ^@ NM_001044385.2(TMEM237):c.*258delA http://identifiers.org/clinvar/336050 ^@ NM_022436.2(ABCG5):c.715G>A (p.Ala239Thr) http://identifiers.org/clinvar/336100 ^@ NM_133259.3(LRPPRC):c.*2176A>T http://identifiers.org/clinvar/336150 ^@ NM_133259.3(LRPPRC):c.3430C>T (p.Arg1144Cys) http://identifiers.org/clinvar/336200 ^@ NM_000341.3(SLC3A1):c.1137-3T>C http://identifiers.org/clinvar/336300 ^@ NM_001430.4(EPAS1):c.*808C>A http://identifiers.org/clinvar/336707 ^@ NM_002618.3(PEX13):c.*3038A>T http://identifiers.org/clinvar/336757 ^@ NM_015910.5(WDPCP):c.2179G>A (p.Gly727Ser) http://identifiers.org/clinvar/336807 ^@ NM_002056.3(GFPT1):c.*4059A>G http://identifiers.org/clinvar/336857 ^@ NM_002056.3(GFPT1):c.*870C>A http://identifiers.org/clinvar/335250 ^@ NM_004321.7(KIF1A):c.*129G>A http://identifiers.org/clinvar/342476 ^@ NM_000551.3(VHL):c.*2562C>T http://identifiers.org/clinvar/335150 ^@ NM_004369.3(COL6A3):c.-164T>G http://identifiers.org/clinvar/335550 ^@ NM_144631.5(ZNF513):c.*134A>G http://identifiers.org/clinvar/335650 ^@ NM_001029883.2(C2orf71):c.2257G>A (p.Ala753Thr) http://identifiers.org/clinvar/335400 ^@ NM_000183.2(HADHB):c.-9+11G>C http://identifiers.org/clinvar/335900 ^@ NM_001011.3(RPS7):c.-19+13C>T http://identifiers.org/clinvar/335700 ^@ NM_004304.4(ALK):c.2603T>A (p.Leu868Gln) http://identifiers.org/clinvar/357342 ^@ NM_003221.3(TFAP2B):c.*3522C>A http://identifiers.org/clinvar/350855 ^@ NM_014402.4(UQCRQ):c.*970A>C http://identifiers.org/clinvar/350905 ^@ NM_001369.2(DNAH5):c.*1389C>T http://identifiers.org/clinvar/351005 ^@ NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) http://identifiers.org/clinvar/351055 ^@ NM_001369.2(DNAH5):c.8099T>C (p.Ile2700Thr) http://identifiers.org/clinvar/351255 ^@ NM_005219.4(DIAPH1):c.*1654C>G http://identifiers.org/clinvar/351105 ^@ NM_022464.4(SIL1):c.-92T>A http://identifiers.org/clinvar/351355 ^@ NM_001018077.1(NR3C1):c.*618A>G http://identifiers.org/clinvar/351605 ^@ NM_024577.3(SH3TC2):c.*19040A>G http://identifiers.org/clinvar/351755 ^@ NM_024577.3(SH3TC2):c.*8313G>A http://identifiers.org/clinvar/351855 ^@ NM_024577.3(SH3TC2):c.*2394C>T http://identifiers.org/clinvar/351655 ^@ NM_024577.3(SH3TC2):c.*15061C>T http://identifiers.org/clinvar/351705 ^@ NM_024577.3(SH3TC2):c.*10767G>A http://identifiers.org/clinvar/351805 ^@ NM_024577.3(SH3TC2):c.*5666A>G http://identifiers.org/clinvar/359381 ^@ NM_022458.3(LMBR1):c.*2500A>G http://identifiers.org/clinvar/359431 ^@ NM_022458.3(LMBR1):c.462T>G (p.Leu154=) http://identifiers.org/clinvar/359631 ^@ NM_001277115.1(DNAH11):c.5157A>G (p.Thr1719=) http://identifiers.org/clinvar/356392 ^@ NM_080680.2(COL11A2):c.3370G>A (p.Ala1124Thr) http://identifiers.org/clinvar/352103 ^@ NM_005211.3(CSF1R):c.*604A>G http://identifiers.org/clinvar/356492 ^@ NM_182548.3(LHFPL5):c.506C>T (p.Thr169Met) http://identifiers.org/clinvar/359931 ^@ NM_018947.5(CYCS):c.*1279A>T http://identifiers.org/clinvar/360131 ^@ NM_133468.4(BMPER):c.*678G>A http://identifiers.org/clinvar/360181 ^@ NM_000168.5(GLI3):c.*1780C>T http://identifiers.org/clinvar/360231 ^@ NM_000168.5(GLI3):c.3149C>T (p.Thr1050Met) http://identifiers.org/clinvar/356992 ^@ NM_006502.2(POLH):c.*4368C>T http://identifiers.org/clinvar/357242 ^@ NM_000255.3(MUT):c.*580A>G http://identifiers.org/clinvar/357492 ^@ NM_018100.3(EFHC1):c.*233T>A http://identifiers.org/clinvar/353192 ^@ NM_004553.4(NDUFS6):c.198C>T (p.Asn66=) http://identifiers.org/clinvar/357542 ^@ NM_001723.5(DST):c.7909C>A (p.Pro2637Thr) http://identifiers.org/clinvar/361220 ^@ NM_178857.5(RP1L1):c.6545C>A (p.Ala2182Asp) http://identifiers.org/clinvar/361580 ^@ NM_014112.4(TRPS1):c.*1989G>T http://identifiers.org/clinvar/357992 ^@ NM_004999.3(MYO6):c.755G>A (p.Cys252Tyr) http://identifiers.org/clinvar/353842 ^@ NM_002203.3(ITGA2):c.*3028G>A http://identifiers.org/clinvar/361780 ^@ NM_004519.3(KCNQ3):c.*6205G>T http://identifiers.org/clinvar/361830 ^@ NM_004519.3(KCNQ3):c.*3217C>T http://identifiers.org/clinvar/299872 ^@ NM_021252.4(RAB18):c.*3484T>C http://identifiers.org/clinvar/363869 ^@ NM_019098.4(CNGB3):c.1815T>G (p.Thr605=) http://identifiers.org/clinvar/363919 ^@ NM_153704.5(TMEM67):c.137C>T (p.Pro46Leu) http://identifiers.org/clinvar/361120 ^@ NM_017890.4(VPS13B):c.*1483C>A http://identifiers.org/clinvar/364319 ^@ NM_005502.3(ABCA1):c.*3279A>T http://identifiers.org/clinvar/364219 ^@ NM_014425.4(INVS):c.-129C>A http://identifiers.org/clinvar/364419 ^@ NM_005502.3(ABCA1):c.3286G>A (p.Val1096Ile) http://identifiers.org/clinvar/364569 ^@ NM_003640.4(IKBKAP):c.1911T>C (p.Val637=) http://identifiers.org/clinvar/364469 ^@ NM_005502.3(ABCA1):c.-26A>C http://identifiers.org/clinvar/364769 ^@ NM_018249.5(CDK5RAP2):c.2050A>G (p.Met684Val) http://identifiers.org/clinvar/300772 ^@ NM_002658.4(PLAU):c.*520G>T http://identifiers.org/clinvar/364619 ^@ NM_000031.5(ALAD):c.*1915delA http://identifiers.org/clinvar/364719 ^@ NM_012210.3(TRIM32):c.1432T>G (p.Leu478Val) http://identifiers.org/clinvar/364869 ^@ NM_000550.2(TYRP1):c.*568T>C http://identifiers.org/clinvar/308815 ^@ NM_001017535.1(VDR):c.*2827A>G http://identifiers.org/clinvar/309165 ^@ NM_000217.2(KCNA1):c.*965A>T http://identifiers.org/clinvar/309265 ^@ NM_000486.5(AQP2):c.*2616G>A http://identifiers.org/clinvar/298333 ^@ NM_000195.4(HPS1):c.*272C>T http://identifiers.org/clinvar/298433 ^@ NM_004376.6(COX15):c.-472T>C http://identifiers.org/clinvar/309465 ^@ NM_000020.2(ACVRL1):c.*1042C>G http://identifiers.org/clinvar/365858 ^@ NM_052813.4(CARD9):c.35G>A (p.Ser12Asn) http://identifiers.org/clinvar/309715 ^@ NM_002272.3(KRT4):c.-51G>A http://identifiers.org/clinvar/309815 ^@ NM_002905.3(RDH5):c.776C>T (p.Pro259Leu) http://identifiers.org/clinvar/309865 ^@ NM_012064.3(MIP):c.*1207_*1209delATT http://identifiers.org/clinvar/309965 ^@ NM_000075.3(CDK4):c.*706G>A http://identifiers.org/clinvar/302361 ^@ NM_002906.3(RDX):c.-179C>T http://identifiers.org/clinvar/366459 ^@ NM_000459.4(TEK):c.*206A>C http://identifiers.org/clinvar/366509 ^@ NM_001256054.2(C9orf72):c.1260-12_1260-11insT http://identifiers.org/clinvar/366659 ^@ NM_001497.3(B4GALT1):c.770A>G (p.His257Arg) http://identifiers.org/clinvar/302761 ^@ NM_005188.3(CBL):c.-106_-95dupGGCGGCGGCGGC http://identifiers.org/clinvar/366759 ^@ NM_032634.3(PIGO):c.1277C>A (p.Ala426Asp) http://identifiers.org/clinvar/302861 ^@ NM_005188.3(CBL):c.*5093C>G http://identifiers.org/clinvar/366559 ^@ NM_005802.4(TOPORS):c.2988C>T (p.Leu996=) http://identifiers.org/clinvar/367059 ^@ NM_004170.5(SLC1A1):c.1398C>T (p.Ser466=) http://identifiers.org/clinvar/366609 ^@ NM_001497.3(B4GALT1):c.*2292A>T http://identifiers.org/clinvar/312609 ^@ NM_005708.4(GPC6):c.*4476A>G http://identifiers.org/clinvar/312659 ^@ NM_001376.4(DYNC1H1):c.12887T>C (p.Met4296Thr) http://identifiers.org/clinvar/340537 ^@ NM_006031.5(PCNT):c.8942G>A (p.Arg2981Gln) http://identifiers.org/clinvar/314448 ^@ NM_003239.4(TGFB3):c.1081-14A>G http://identifiers.org/clinvar/340637 ^@ NM_014339.6(IL17RA):c.*1093T>C http://identifiers.org/clinvar/322133 ^@ NM_016239.3(MYO15A):c.3757-13G>A http://identifiers.org/clinvar/322183 ^@ NM_016239.3(MYO15A):c.10395G>T (p.Arg3465=) http://identifiers.org/clinvar/314598 ^@ NM_004863.3(SPTLC2):c.*3931G>C http://identifiers.org/clinvar/340787 ^@ NM_017929.5(PEX26):c.*1283C>T http://identifiers.org/clinvar/314698 ^@ NM_000369.2(TSHR):c.2120G>A (p.Arg707Gln) http://identifiers.org/clinvar/322333 ^@ NM_000430.3(PAFAH1B1):c.*3631G>A http://identifiers.org/clinvar/322533 ^@ NM_001045.5(SLC6A4):c.1257G>A (p.Ala419=) http://identifiers.org/clinvar/322683 ^@ NM_145068.3(TRPV3):c.*3045G>T http://identifiers.org/clinvar/322733 ^@ NM_145068.3(TRPV3):c.*837A>G http://identifiers.org/clinvar/341337 ^@ NM_000362.4(TIMP3):c.-330C>T http://identifiers.org/clinvar/341437 ^@ NM_004737.5(LARGE1):c.178C>T (p.Arg60Trp) http://identifiers.org/clinvar/322983 ^@ NM_001004334.3(GPR179):c.4888G>A (p.Glu1630Lys) http://identifiers.org/clinvar/313498 ^@ NM_182914.2(SYNE2):c.2960G>A (p.Gly987Asp) http://identifiers.org/clinvar/313698 ^@ NM_000347.5(SPTB):c.*93G>C http://identifiers.org/clinvar/313798 ^@ NM_002382.4(MAX):c.*717T>C http://identifiers.org/clinvar/313848 ^@ NM_152443.2(RDH12):c.*434A>T http://identifiers.org/clinvar/313898 ^@ NM_015346.3(ZFYVE26):c.4103C>A (p.Ala1368Asp) http://identifiers.org/clinvar/313948 ^@ NM_000021.3(PSEN1):c.1002C>T (p.Gly334=) http://identifiers.org/clinvar/314048 ^@ NM_031427.3(DNAL1):c.*1846C>T http://identifiers.org/clinvar/314098 ^@ NM_031427.3(DNAL1):c.*4867T>G http://identifiers.org/clinvar/314198 ^@ NM_182894.2(VSX2):c.777G>T (p.Ser259=) http://identifiers.org/clinvar/314298 ^@ NM_000428.2(LTBP2):c.2588A>G (p.Asn863Ser) http://identifiers.org/clinvar/368148 ^@ NM_171998.3(RAB39B):c.-61G>C http://identifiers.org/clinvar/368248 ^@ NM_004006.2(DMD):c.3450G>T (p.Glu1150Asp) http://identifiers.org/clinvar/316287 ^@ NM_000338.2(SLC12A1):c.*136G>A http://identifiers.org/clinvar/324072 ^@ NM_000088.3(COL1A1):c.*744C>T http://identifiers.org/clinvar/324126 ^@ NM_000088.3(COL1A1):c.-23G>A http://identifiers.org/clinvar/316387 ^@ NM_000138.4(FBN1):c.1193G>A (p.Arg398Lys) http://identifiers.org/clinvar/368548 ^@ NM_006306.3(SMC1A):c.*5352C>T http://identifiers.org/clinvar/314548 ^@ NM_013382.5(POMT2):c.*289G>A http://identifiers.org/clinvar/368598 ^@ NM_000032.4(ALAS2):c.661G>A (p.Ala221Thr) http://identifiers.org/clinvar/368648 ^@ NM_002637.3(PHKA1):c.1141G>A (p.Asp381Asn) http://identifiers.org/clinvar/324531 ^@ NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) http://identifiers.org/clinvar/324581 ^@ NM_014336.4(AIPL1):c.*1229C>T http://identifiers.org/clinvar/316837 ^@ NM_002755.3(MAP2K1):c.1069-12C>A http://identifiers.org/clinvar/316937 ^@ NM_005902.3(SMAD3):c.*2303G>C http://identifiers.org/clinvar/324731 ^@ NM_031220.3(PITPNM3):c.*641C>T http://identifiers.org/clinvar/317438 ^@ NM_000875.4(IGF1R):c.-43T>C http://identifiers.org/clinvar/325331 ^@ NM_004035.6(ACOX1):c.*2736G>A http://identifiers.org/clinvar/325581 ^@ NM_006640.4(SEPT9):c.*54_*55dupCC http://identifiers.org/clinvar/325832 ^@ NM_000199.3(SGSH):c.1209C>T (p.Tyr403=) http://identifiers.org/clinvar/373048 ^@ NM_015100.3(POGZ):c.1180_1181delAT (p.Met394Valfs) http://identifiers.org/clinvar/372895 ^@ NM_015284.3(SZT2):c.5949_5951delTGT (p.Val1984del) http://identifiers.org/clinvar/373148 ^@ NM_001165963.1(SCN1A):c.5282T>C (p.Val1761Ala) http://identifiers.org/clinvar/373798 ^@ NM_001271208.1(NEB):c.24607_24609dupAAT (p.Asn8203_Val8204insAsn) http://identifiers.org/clinvar/373348 ^@ NM_003849.3(SUCLG1):c.745A>G (p.Thr249Ala) http://identifiers.org/clinvar/372948 ^@ NM_052859.3(RFT1):c.200G>A (p.Arg67His) http://identifiers.org/clinvar/373298 ^@ NM_018075.4(ANO10):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/373098 ^@ NM_020732.3(ARID1B):c.1360C>T (p.Gln454Ter) http://identifiers.org/clinvar/372998 ^@ NM_025132.3(WDR19):c.728G>T (p.Gly243Val) http://identifiers.org/clinvar/373198 ^@ NM_170606.2(KMT2C):c.10216G>A (p.Glu3406Lys) http://identifiers.org/clinvar/373548 ^@ NM_182643.2(DLC1):c.4582A>T (p.Arg1528Trp) http://identifiers.org/clinvar/373398 ^@ NM_001080463.1(DYNC2H1):c.6625A>T (p.Thr2209Ser) http://identifiers.org/clinvar/373248 ^@ NM_017617.4(NOTCH1):c.2501C>G (p.Ala834Gly) http://identifiers.org/clinvar/373498 ^@ NM_006393.2(NEBL):c.2718C>A (p.Ser906Arg) http://identifiers.org/clinvar/373598 ^@ NM_000138.4(FBN1):c.4466A>G (p.Asn1489Ser) http://identifiers.org/clinvar/373448 ^@ NM_022166.3(XYLT1):c.2116A>G (p.Asn706Asp) http://identifiers.org/clinvar/373648 ^@ NM_001127221.1(CACNA1A):c.2486A>G (p.Gln829Arg) http://identifiers.org/clinvar/373748 ^@ NM_017636.3(TRPM4):c.2254C>T (p.Gln752Ter) http://identifiers.org/clinvar/373698 ^@ NM_172107.3(KCNQ2):c.641G>C (p.Arg214Pro) http://identifiers.org/clinvar/373848 ^@ NG_005905.2:g.126374_136783del10410 http://identifiers.org/clinvar/374201 ^@ NM_170707.3(LMNA):c.130G>T (p.Val44Phe) http://identifiers.org/clinvar/374001 ^@ NM_206933.2(USH2A):c.6722C>A (p.Pro2241His) http://identifiers.org/clinvar/373901 ^@ NM_001267550.2(TTN):c.30395A>G (p.His10132Arg) http://identifiers.org/clinvar/374151 ^@ NM_000501.3(ELN):c.759_760insGCA (p.Ala260_Lys261insAla) http://identifiers.org/clinvar/373951 ^@ NM_016373.3(WWOX):c.183C>A (p.Tyr61Ter) http://identifiers.org/clinvar/374101 ^@ NM_001139.2(ALOX12B):c.1859C>A (p.Pro620Gln) http://identifiers.org/clinvar/374051 ^@ NM_001128849.1(SMARCA4):c.1358C>T (p.Thr453Ile) http://identifiers.org/clinvar/375229 ^@ NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del http://identifiers.org/clinvar/375290 ^@ NM_003995.3(NPR2):c.1435C>T (p.Arg479Ter) http://identifiers.org/clinvar/375344 ^@ NM_182476.2(COQ6):c.1341G>A (p.Trp447Ter) http://identifiers.org/clinvar/375396 ^@ NM_004796.5(NRXN3):c.2023+3A>G http://identifiers.org/clinvar/375456 ^@ NM_001111125.2(IQSEC2):c.599G>C (p.Arg200Pro) http://identifiers.org/clinvar/375519 ^@ NM_003165.3(STXBP1):c.1565G>A (p.Trp522Ter) http://identifiers.org/clinvar/375578 ^@ NM_001733.4(C1R):c.1012T>C (p.Cys338Arg) http://identifiers.org/clinvar/375636 ^@ NM_000041.3(APOE):c.461G>T (p.Arg154Leu) http://identifiers.org/clinvar/375699 ^@ NM_032387.4(WNK4):c.3505A>G (p.Lys1169Glu) http://identifiers.org/clinvar/375781 ^@ NM_000527.4(LDLR):c.327C>A (p.Cys109Ter) http://identifiers.org/clinvar/375831 ^@ NM_000527.4(LDLR):c.2078dupA (p.Phe694Valfs) http://identifiers.org/clinvar/375884 ^@ NM_022552.4(DNMT3A):c.2644C>A (p.Arg882Ser) http://identifiers.org/clinvar/375934 ^@ NM_000125.3(ESR1):c.1387T>C (p.Ser463Pro) http://identifiers.org/clinvar/391966 ^@ NM_000179.2(MSH6):c.-45A>T http://identifiers.org/clinvar/378293 ^@ NM_001135659.2(NRXN1):c.2364C>G (p.Ser788=) http://identifiers.org/clinvar/385249 ^@ NM_001135659.2(NRXN1):c.3450T>C (p.Ser1150=) http://identifiers.org/clinvar/387288 ^@ NM_003494.3(DYSF):c.89-3T>C http://identifiers.org/clinvar/393016 ^@ NM_024334.2(TMEM43):c.96C>T (p.Thr32=) http://identifiers.org/clinvar/378851 ^@ NM_000551.3(VHL):c.-26C>G http://identifiers.org/clinvar/378041 ^@ NM_004321.7(KIF1A):c.363+16C>T http://identifiers.org/clinvar/387638 ^@ NM_178862.2(STT3B):c.1869T>C (p.Asn623=) http://identifiers.org/clinvar/379251 ^@ NM_006614.3(CHL1):c.1241T>C (p.Val414Ala) http://identifiers.org/clinvar/378549 ^@ NM_198056.2(SCN5A):c.4470G>A (p.Glu1490=) http://identifiers.org/clinvar/390827 ^@ NM_001148.4(ANK2):c.4554C>T (p.Thr1518=) http://identifiers.org/clinvar/393066 ^@ NM_198056.2(SCN5A):c.903G>C (p.Trp301Cys) http://identifiers.org/clinvar/391916 ^@ NM_024582.4(FAT4):c.1698C>T (p.Ala566=) http://identifiers.org/clinvar/378143 ^@ NM_000249.3(MLH1):c.1558+10C>T http://identifiers.org/clinvar/392966 ^@ NM_023073.3(C5orf42):c.6158T>A (p.Phe2053Tyr) http://identifiers.org/clinvar/387988 ^@ NM_000387.5(SLC25A20):c.105+7G>T http://identifiers.org/clinvar/390627 ^@ NM_001457.3(FLNB):c.4281C>T (p.Ala1427=) http://identifiers.org/clinvar/387588 ^@ NM_033071.3(SYNE1):c.23334A>G (p.Glu7778=) http://identifiers.org/clinvar/390577 ^@ NM_018699.3(PRDM5):c.1383T>C (p.Tyr461=) http://identifiers.org/clinvar/388038 ^@ NM_014476.5(PDLIM3):c.12G>C (p.Thr4=) http://identifiers.org/clinvar/390327 ^@ NM_001851.4(COL9A1):c.1701A>G (p.Ala567=) http://identifiers.org/clinvar/392666 ^@ NM_000283.3(PDE6B):c.217G>A (p.Glu73Lys) http://identifiers.org/clinvar/378951 ^@ NM_000038.5(APC):c.7044A>G (p.Thr2348=) http://identifiers.org/clinvar/378599 ^@ NM_000441.1(SLC26A4):c.1265T>C (p.Val422Ala) http://identifiers.org/clinvar/387138 ^@ NM_002047.3(GARS):c.1032-15C>T http://identifiers.org/clinvar/378498 ^@ NM_016038.3(SBDS):c.127G>T (p.Val43Leu) http://identifiers.org/clinvar/388338 ^@ NM_021911.2(GABRB2):c.1063C>T (p.Leu355=) http://identifiers.org/clinvar/386249 ^@ NM_000445.4(PLEC):c.10186G>T (p.Val3396Leu) http://identifiers.org/clinvar/378649 ^@ NM_001130438.2(SPTAN1):c.1086-4C>G http://identifiers.org/clinvar/387688 ^@ NM_000093.4(COL5A1):c.4393-7C>T http://identifiers.org/clinvar/385749 ^@ NM_024531.4(SLC52A2):c.1113G>A (p.Gly371=) http://identifiers.org/clinvar/392616 ^@ NM_004408.3(DNM1):c.604G>A (p.Gly202Arg) http://identifiers.org/clinvar/386449 ^@ NM_001069.2(TUBB2A):c.216C>T (p.Thr72=) http://identifiers.org/clinvar/392916 ^@ NM_153704.5(TMEM67):c.2848G>A (p.Val950Met) http://identifiers.org/clinvar/387188 ^@ NM_000093.4(COL5A1):c.1774-16C>T http://identifiers.org/clinvar/382406 ^@ NM_183050.3(BCKDHB):c.*2186A>G http://identifiers.org/clinvar/387338 ^@ NM_020822.2(KCNT1):c.2008+9G>T http://identifiers.org/clinvar/392066 ^@ NM_014908.3(DOLK):c.130T>C (p.Trp44Arg) http://identifiers.org/clinvar/133041 ^@ NM_000540.2(RYR1):c.1280_1281dupCG (p.Gly428Argfs) http://identifiers.org/clinvar/133091 ^@ NM_000540.2(RYR1):c.14779G>T (p.Val4927Phe) http://identifiers.org/clinvar/133141 ^@ NM_000540.2(RYR1):c.497A>G (p.Asp166Gly) http://identifiers.org/clinvar/133241 ^@ NM_000540.2(RYR1):c.9356G>A (p.Arg3119His) http://identifiers.org/clinvar/133320 ^@ NM_015599.2(PGM3):c.248T>C (p.Leu83Ser) http://identifiers.org/clinvar/133383 ^@ NM_001128849.1(SMARCA4):c.2617-110G>A http://identifiers.org/clinvar/133433 ^@ NM_003400.3(XPO1):c.1385-49A>G http://identifiers.org/clinvar/133483 ^@ NM_004304.4(ALK):c.1111G>A (p.Ala371Thr) http://identifiers.org/clinvar/133534 ^@ NM_000038.5(APC):c.7589G>A (p.Arg2530Gln) http://identifiers.org/clinvar/133584 ^@ NM_015338.5(ASXL1):c.3498C>G (p.Ser1166Arg) http://identifiers.org/clinvar/133634 ^@ NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) http://identifiers.org/clinvar/134330 ^@ NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) http://identifiers.org/clinvar/134381 ^@ NM_033632.3(FBXW7):c.45_46insCCT (p.Thr15_Gly16insPro) http://identifiers.org/clinvar/134431 ^@ NM_144997.5(FLCN):c.1198G>A (p.Val400Ile) http://identifiers.org/clinvar/134481 ^@ NM_001077490.2(GNAS):c.1240C>T (p.Pro414Ser) http://identifiers.org/clinvar/134531 ^@ NM_002185.3(IL7R):c.760G>A (p.Ala254Thr) http://identifiers.org/clinvar/134581 ^@ NM_000215.3(JAK3):c.381T>C (p.Ala127=) http://identifiers.org/clinvar/134631 ^@ NM_000222.2(KIT):c.1241A>G (p.Glu414Gly) http://identifiers.org/clinvar/134683 ^@ NM_003482.3(KMT2D):c.5753G>A (p.Arg1918His) http://identifiers.org/clinvar/134734 ^@ NM_003482.3(KMT2D):c.1115T>A (p.Phe372Tyr) http://identifiers.org/clinvar/134784 ^@ NM_170606.2(KMT2C):c.10513A>G (p.Asn3505Asp) http://identifiers.org/clinvar/134835 ^@ NM_005373.2(MPL):c.962G>A (p.Arg321Gln) http://identifiers.org/clinvar/134888 ^@ NM_001042492.2(NF1):c.584A>G (p.Lys195Arg) http://identifiers.org/clinvar/134938 ^@ NM_017617.4(NOTCH1):c.4222G>A (p.Glu1408Lys) http://identifiers.org/clinvar/134988 ^@ NM_002520.6(NPM1):c.362A>G (p.Glu121Gly) http://identifiers.org/clinvar/135038 ^@ NM_006218.3(PIK3CA):c.1173A>G (p.Ile391Met) http://identifiers.org/clinvar/135089 ^@ NM_001198.3(PRDM1):c.2464C>A (p.Pro822Thr) http://identifiers.org/clinvar/135140 ^@ NM_004260.3(RECQL4):c.2569_2574delTGCACC (p.Cys857_Thr858del) http://identifiers.org/clinvar/135221 ^@ NM_014159.6(SETD2):c.2543C>T (p.Ala848Val) http://identifiers.org/clinvar/135272 ^@ NM_003745.1(SOCS1):c.144_149delGGCCCC (p.Ala49_Pro50del) http://identifiers.org/clinvar/135322 ^@ NM_001127208.2(TET2):c.197T>C (p.Met66Thr) http://identifiers.org/clinvar/135372 ^@ NM_000548.4(TSC2):c.1820C>T (p.Ala607Val) http://identifiers.org/clinvar/135423 ^@ NM_000553.4(WRN):c.95A>G (p.Lys32Arg) http://identifiers.org/clinvar/135473 ^@ NM_004628.4(XPC):c.2621C>T (p.Pro874Leu) http://identifiers.org/clinvar/135523 ^@ NM_000400.3(ERCC2):c.1119-5G>A http://identifiers.org/clinvar/135574 ^@ NM_005631.4(SMO):c.1921C>G (p.Pro641Ala) http://identifiers.org/clinvar/135649 ^@ NC_000006.10:g.(169148957_169163197)_(170663087_170899992)del http://identifiers.org/clinvar/135708 ^@ NM_000038.5(APC):c.5759G>T (p.Arg1920Leu) http://identifiers.org/clinvar/135760 ^@ NM_000051.3(ATM):c.5126A>G (p.Gln1709Arg) http://identifiers.org/clinvar/135818 ^@ NM_000059.3(BRCA2):c.8510G>T (p.Gly2837Val) http://identifiers.org/clinvar/135868 ^@ NM_000264.3(PTCH1):c.1216-10G>A http://identifiers.org/clinvar/135918 ^@ NM_000455.4(STK11):c.1254C>G (p.Cys418Trp) http://identifiers.org/clinvar/135969 ^@ NM_001127500.2(MET):c.4065A>G (p.Ile1355Met) http://identifiers.org/clinvar/136020 ^@ NM_002354.2(EPCAM):c.319G>A (p.Ala107Thr) http://identifiers.org/clinvar/136070 ^@ NM_004360.4(CDH1):c.84C>T (p.Cys28=) http://identifiers.org/clinvar/136121 ^@ NM_020975.4(RET):c.597C>T (p.Asn199=) http://identifiers.org/clinvar/136171 ^@ NM_130799.2(MEN1):c.591C>G (p.Thr197=) http://identifiers.org/clinvar/136283 ^@ NM_001103.3(ACTN2):c.378T>C (p.Asn126=) http://identifiers.org/clinvar/136333 ^@ NM_005751.4(AKAP9):c.5778C>T (p.Gly1926=) http://identifiers.org/clinvar/136385 ^@ NM_001148.4(ANK2):c.2080-18G>T http://identifiers.org/clinvar/185773 ^@ NM_001042492.2(NF1):c.7833T>C (p.Thr2611=) http://identifiers.org/clinvar/185973 ^@ NM_002878.3(RAD51D):c.27C>T (p.Cys9=) http://identifiers.org/clinvar/185823 ^@ NM_007294.3(BRCA1):c.4813T>A (p.Leu1605Met) http://identifiers.org/clinvar/185123 ^@ NM_007294.3(BRCA1):c.1913A>C (p.Glu638Ala) http://identifiers.org/clinvar/184034 ^@ NM_007294.3(BRCA1):c.522A>G (p.Gln174=) http://identifiers.org/clinvar/185073 ^@ NM_058216.2(RAD51C):c.477T>G (p.Asp159Glu) http://identifiers.org/clinvar/187564 ^@ NM_032043.2(BRIP1):c.3662T>G (p.Leu1221Arg) http://identifiers.org/clinvar/183933 ^@ NM_032043.2(BRIP1):c.2829C>T (p.Val943=) http://identifiers.org/clinvar/185373 ^@ NM_032043.2(BRIP1):c.93+2dupT http://identifiers.org/clinvar/187714 ^@ NM_000546.5(TP53):c.666G>A (p.Pro222=) http://identifiers.org/clinvar/185873 ^@ NM_000546.5(TP53):c.530_532dupCCC (p.Pro177_His178insPro) http://identifiers.org/clinvar/183733 ^@ NM_005359.5(SMAD4):c.20C>T (p.Thr7Met) http://identifiers.org/clinvar/184084 ^@ NM_000455.4(STK11):c.1218G>A (p.Ala406=) http://identifiers.org/clinvar/185523 ^@ NM_007194.3(CHEK2):c.359G>A (p.Ser120Asn) http://identifiers.org/clinvar/187768 ^@ NM_007254.3(PNKP):c.1549_1550insTGTACTGC (p.Gln517Leufs) http://identifiers.org/clinvar/187825 ^@ NC_000002.11:g.(?_204032747)_(205890355_?)del http://identifiers.org/clinvar/187897 ^@ NM_005957.4(MTHFR):c.1632+2T>G http://identifiers.org/clinvar/187947 ^@ NM_004409.4(DMPK):c.*224_*226[256] http://identifiers.org/clinvar/187997 ^@ NM_004409.4(DMPK):c.*224_*226[52] http://identifiers.org/clinvar/188047 ^@ NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del http://identifiers.org/clinvar/188098 ^@ NM_000551.3(VHL):c.29A>T (p.Glu10Val) http://identifiers.org/clinvar/188358 ^@ NM_001127500.2(MET):c.1715G>A (p.Ser572Asn) http://identifiers.org/clinvar/188149 ^@ NM_000535.6(PMS2):c.1185delC (p.Met396Trpfs) http://identifiers.org/clinvar/188305 ^@ NM_020975.4(RET):c.262A>G (p.Ile88Val) http://identifiers.org/clinvar/188199 ^@ NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) http://identifiers.org/clinvar/188252 ^@ NM_000051.3(ATM):c.409T>G (p.Tyr137Asp) http://identifiers.org/clinvar/188467 ^@ NM_004415.3(DSP):c.5063C>T (p.Ala1688Val) http://identifiers.org/clinvar/188567 ^@ NM_000256.3(MYBPC3):c.2309-27G>A http://identifiers.org/clinvar/188517 ^@ NM_000256.3(MYBPC3):c.26-27C>T http://identifiers.org/clinvar/188617 ^@ NM_000257.3(MYH7):c.2680-57C>G http://identifiers.org/clinvar/188417 ^@ NM_007294.3(BRCA1):c.5126G>A (p.Gly1709Glu) http://identifiers.org/clinvar/188667 ^@ NM_000363.4(TNNI3):c.-47C>T http://identifiers.org/clinvar/188717 ^@ NM_000187.3(HGD):c.11T>A (p.Leu4Ter) http://identifiers.org/clinvar/188767 ^@ NM_000153.3(GALC):c.955delT (p.Tyr319Metfs) http://identifiers.org/clinvar/189932 ^@ NM_001165963.1(SCN1A):c.5470G>T (p.Glu1824Ter) http://identifiers.org/clinvar/189882 ^@ NM_001165963.1(SCN1A):c.2837G>C (p.Arg946Pro) http://identifiers.org/clinvar/227293 ^@ NM_015404.3(WHRN):c.234G>A (p.Leu78=) http://identifiers.org/clinvar/229184 ^@ NM_001134363.2(RBM20):c.1494C>A (p.Ser498Arg) http://identifiers.org/clinvar/228984 ^@ NM_017433.4(MYO3A):c.4438+4A>G http://identifiers.org/clinvar/229134 ^@ NM_033056.3(PCDH15):c.2691G>C (p.Glu897Asp) http://identifiers.org/clinvar/226841 ^@ NM_032578.3(MYPN):c.1893G>A (p.Arg631=) http://identifiers.org/clinvar/229034 ^@ NM_032578.3(MYPN):c.2443A>G (p.Ile815Val) http://identifiers.org/clinvar/228484 ^@ NM_022124.5(CDH23):c.1515-12G>A http://identifiers.org/clinvar/229084 ^@ NM_001277269.1(OTOG):c.1220A>C (p.Gln407Pro) http://identifiers.org/clinvar/227443 ^@ NM_004517.3(ILK):c.532+14G>A http://identifiers.org/clinvar/228884 ^@ NM_002471.3(MYH6):c.104C>G (p.Thr35Ser) http://identifiers.org/clinvar/228684 ^@ NM_000138.4(FBN1):c.2537T>C (p.Ile846Thr) http://identifiers.org/clinvar/226791 ^@ NM_016239.3(MYO15A):c.876C>T (p.Pro292=) http://identifiers.org/clinvar/228834 ^@ NM_144612.6(LOXHD1):c.5272A>T (p.Thr1758Ser) http://identifiers.org/clinvar/229284 ^@ NM_001039876.2(SYNE4):c.616C>T (p.Leu206=) http://identifiers.org/clinvar/227242 ^@ NM_001039213.3(CEACAM16):c.546C>T (p.Asp182=) http://identifiers.org/clinvar/229334 ^@ NM_000363.4(TNNI3):c.622T>A (p.Phe208Ile) http://identifiers.org/clinvar/228584 ^@ NM_004006.2(DMD):c.3082C>T (p.Arg1028Cys) http://identifiers.org/clinvar/228784 ^@ NM_002290.4(LAMA4):c.946-15C>G http://identifiers.org/clinvar/234384 ^@ NM_002485.4(NBN):c.702+16G>C http://identifiers.org/clinvar/234275 ^@ NM_000059.3(BRCA2):c.1106A>C (p.Asn369Thr) http://identifiers.org/clinvar/234168 ^@ NM_000059.3(BRCA2):c.6876A>G (p.Glu2292=) http://identifiers.org/clinvar/234330 ^@ NM_014646.2(LPIN2):c.781C>G (p.His261Asp) http://identifiers.org/clinvar/234068 ^@ NM_000143.3(FH):c.1163T>C (p.Met388Thr) http://identifiers.org/clinvar/230475 ^@ NM_001128425.1(MUTYH):c.36+5G>A http://identifiers.org/clinvar/233817 ^@ NM_000465.3(BARD1):c.1502C>G (p.Ala501Gly) http://identifiers.org/clinvar/231675 ^@ NM_000465.3(BARD1):c.826A>G (p.Thr276Ala) http://identifiers.org/clinvar/233968 ^@ NM_000251.2(MSH2):c.367-4T>G http://identifiers.org/clinvar/233465 ^@ NM_000251.2(MSH2):c.2094G>A (p.Glu698=) http://identifiers.org/clinvar/234218 ^@ NM_000179.2(MSH6):c.2258C>G (p.Ser753Cys) http://identifiers.org/clinvar/230725 ^@ NM_000249.3(MLH1):c.2156T>C (p.Ile719Thr) http://identifiers.org/clinvar/230625 ^@ NM_000038.5(APC):c.2260G>A (p.Val754Ile) http://identifiers.org/clinvar/233215 ^@ NM_000038.5(APC):c.3084T>A (p.Ser1028Arg) http://identifiers.org/clinvar/264367 ^@ NM_002230.2(JUP):c.521C>T (p.Ala174Val) http://identifiers.org/clinvar/264732 ^@ NM_001242896.1(DEPDC5):c.1555C>T (p.Gln519Ter) http://identifiers.org/clinvar/264887 ^@ NM_000059.3(BRCA2):c.*839delT http://identifiers.org/clinvar/264837 ^@ NM_007294.3(BRCA1):c.5074+918G>C http://identifiers.org/clinvar/264787 ^@ NM_007294.3(BRCA1):c.593+357C>T http://identifiers.org/clinvar/265637 ^@ NM_000038.5(APC):c.7143_7146delAACA (p.Thr2382Valfs) http://identifiers.org/clinvar/265587 ^@ NM_000051.3(ATM):c.8851-2A>G http://identifiers.org/clinvar/265687 ^@ NM_003895.3(SYNJ1):c.858_862delACAAA (p.Gln287Profs) http://identifiers.org/clinvar/265772 ^@ NM_006721.3(ADK):c.1022A>G (p.His341Arg) http://identifiers.org/clinvar/265926 ^@ NM_174936.3(PCSK9):c.657+91G>C http://identifiers.org/clinvar/265876 ^@ NM_000384.2(APOB):c.905-15C>G http://identifiers.org/clinvar/265981 ^@ NM_002389.4(CD46):c.776delG (p.Gly259Valfs) http://identifiers.org/clinvar/266032 ^@ NM_201380.3(PLEC):c.149G>A (p.Arg50His) http://identifiers.org/clinvar/266108 ^@ NM_020435.3(GJC2):c.78delG (p.Trp27Glyfs) http://identifiers.org/clinvar/267008 ^@ NM_000059.3(BRCA2):c.73G>T (p.Gly25Ter) http://identifiers.org/clinvar/266608 ^@ NM_000059.3(BRCA2):c.109_112delTCAG (p.Ser37Lysfs) http://identifiers.org/clinvar/266658 ^@ NM_000059.3(BRCA2):c.1774_1777delTATG (p.Tyr592Leufs) http://identifiers.org/clinvar/266708 ^@ NM_000059.3(BRCA2):c.2539A>T (p.Arg847Ter) http://identifiers.org/clinvar/266758 ^@ NM_000059.3(BRCA2):c.3546delT (p.Phe1182Leufs) http://identifiers.org/clinvar/266808 ^@ NM_000059.3(BRCA2):c.4397T>A (p.Leu1466Ter) http://identifiers.org/clinvar/266858 ^@ NM_000059.3(BRCA2):c.5205_5208delACAA (p.Gln1736Ilefs) http://identifiers.org/clinvar/266908 ^@ NM_000059.3(BRCA2):c.5966C>G (p.Ser1989Ter) http://identifiers.org/clinvar/266958 ^@ NM_000059.3(BRCA2):c.6531dupT (p.His2178Serfs) http://identifiers.org/clinvar/266558 ^@ NM_007294.3(BRCA1):c.5503dupC (p.Arg1835Profs) http://identifiers.org/clinvar/266458 ^@ NM_007294.3(BRCA1):c.4206_4207delTA (p.His1402Glnfs) http://identifiers.org/clinvar/266408 ^@ NM_007294.3(BRCA1):c.3837_3840delATCT (p.Ser1280Argfs) http://identifiers.org/clinvar/266358 ^@ NM_007294.3(BRCA1):c.3358_3368delGTTAATACAGA (p.Val1120Phefs) http://identifiers.org/clinvar/266308 ^@ NM_007294.3(BRCA1):c.2850_2851insC (p.Arg951Glnfs) http://identifiers.org/clinvar/266258 ^@ NM_007294.3(BRCA1):c.2396delA (p.Asn799Ilefs) http://identifiers.org/clinvar/266208 ^@ NM_007294.3(BRCA1):c.1978delG (p.Val660Serfs) http://identifiers.org/clinvar/266158 ^@ NM_007294.3(BRCA1):c.1336delA (p.Arg446Glufs) http://identifiers.org/clinvar/266508 ^@ NM_007294.3(BRCA1):c.500_501delCA (p.Thr167Lysfs) http://identifiers.org/clinvar/280360 ^@ NM_024529.4(CDC73):c.723_725delAGGinsC (p.Gly242Lysfs) http://identifiers.org/clinvar/290887 ^@ NM_198843.2(SFTPB):c.618+6G>A http://identifiers.org/clinvar/290937 ^@ NM_001849.3(COL6A2):c.2016G>A (p.Glu672=) http://identifiers.org/clinvar/290987 ^@ NM_153676.3(USH1C):c.1531A>C (p.Met511Leu) http://identifiers.org/clinvar/291037 ^@ NM_001457.3(FLNB):c.2965G>A (p.Val989Met) http://identifiers.org/clinvar/291087 ^@ NM_173591.3(OTOGL):c.3076C>T (p.Gln1026Ter) http://identifiers.org/clinvar/291137 ^@ NM_198576.3(AGRN):c.4779_4793delGCCCAACCCCTGCCA (p.Gln1593_Cys1597del) http://identifiers.org/clinvar/291188 ^@ NM_000169.2(GLA):c.1023delA (p.Glu341Aspfs) http://identifiers.org/clinvar/291238 ^@ NM_000441.1(SLC26A4):c.382_384delTTTinsAA (p.Phe128Lysfs) http://identifiers.org/clinvar/291288 ^@ NM_000543.4(SMPD1):c.1037C>T (p.Ala346Val) http://identifiers.org/clinvar/291403 ^@ NM_001918.3(DBT):c.*5561A>G http://identifiers.org/clinvar/291453 ^@ NM_001918.3(DBT):c.1210-11T>A http://identifiers.org/clinvar/291503 ^@ NM_001854.3(COL11A1):c.4303-13dupT http://identifiers.org/clinvar/291553 ^@ NM_001854.3(COL11A1):c.35G>C (p.Arg12Pro) http://identifiers.org/clinvar/291695 ^@ NM_013296.4(GPSM2):c.-369G>A http://identifiers.org/clinvar/291603 ^@ NM_015074.3(KIF1B):c.*1104C>T http://identifiers.org/clinvar/291895 ^@ NM_013319.2(UBIAD1):c.*1426C>T http://identifiers.org/clinvar/291795 ^@ NM_006610.3(MASP2):c.729C>T (p.Tyr243=) http://identifiers.org/clinvar/291745 ^@ NM_007375.3(TARDBP):c.*505delA http://identifiers.org/clinvar/291845 ^@ NM_003051.3(SLC16A1):c.*603T>C http://identifiers.org/clinvar/292095 ^@ NM_138959.2(VANGL1):c.*5751A>G http://identifiers.org/clinvar/291945 ^@ NM_002524.4(NRAS):c.*3062C>T http://identifiers.org/clinvar/291995 ^@ NM_002506.2(NGF):c.-13+14G>A http://identifiers.org/clinvar/292145 ^@ NM_001232.3(CASQ2):c.-225G>A http://identifiers.org/clinvar/292195 ^@ NM_005957.4(MTHFR):c.*2497G>A http://identifiers.org/clinvar/292045 ^@ NM_138959.2(VANGL1):c.*2043C>T http://identifiers.org/clinvar/292645 ^@ NM_152263.3(TPM3):c.*4302A>G http://identifiers.org/clinvar/292395 ^@ NM_014874.3(MFN2):c.*935G>T http://identifiers.org/clinvar/292745 ^@ NM_001111.4(ADAR):c.*479T>C http://identifiers.org/clinvar/292445 ^@ NM_005266.6(GJA5):c.*60C>T http://identifiers.org/clinvar/292495 ^@ NM_004698.2(PRPF3):c.-118T>C http://identifiers.org/clinvar/292845 ^@ NM_022367.3(SEMA4A):c.405T>C (p.Asn135=) http://identifiers.org/clinvar/292895 ^@ NM_001012331.1(NTRK1):c.2029-11G>A http://identifiers.org/clinvar/292245 ^@ NM_005957.4(MTHFR):c.371C>G (p.Thr124Ser) http://identifiers.org/clinvar/292295 ^@ NM_000302.3(PLOD1):c.1428G>A (p.Lys476=) http://identifiers.org/clinvar/292795 ^@ NM_000298.5(PKLR):c.*779C>A http://identifiers.org/clinvar/292345 ^@ NM_005518.3(HMGCS2):c.88C>G (p.Pro30Ala) http://identifiers.org/clinvar/292545 ^@ NM_019032.5(ADAMTSL4):c.2121G>A (p.Ala707=) http://identifiers.org/clinvar/292595 ^@ NM_000449.3(RFX5):c.*1177C>T http://identifiers.org/clinvar/292695 ^@ NM_152263.3(TPM3):c.804C>T (p.Tyr268=) http://identifiers.org/clinvar/292945 ^@ NM_003126.2(SPTA1):c.6789-5_6789-4dupTT http://identifiers.org/clinvar/292995 ^@ NM_003126.2(SPTA1):c.3292A>C (p.Ile1098Leu) http://identifiers.org/clinvar/335850 ^@ NM_014946.3(SPAST):c.*606_*608delTGT http://identifiers.org/clinvar/336000 ^@ NM_005633.3(SOS1):c.*1094_*1097delTTTG http://identifiers.org/clinvar/336407 ^@ NM_002354.2(EPCAM):c.-79C>T http://identifiers.org/clinvar/336557 ^@ NM_001135659.2(NRXN1):c.-193C>T http://identifiers.org/clinvar/336607 ^@ NM_001039348.2(EFEMP1):c.*1026C>T http://identifiers.org/clinvar/336350 ^@ NM_139279.5(MCFD2):c.*1788C>T http://identifiers.org/clinvar/345086 ^@ NM_198056.2(SCN5A):c.*980C>A http://identifiers.org/clinvar/336507 ^@ NM_001135659.2(NRXN1):c.*2384dupT http://identifiers.org/clinvar/346125 ^@ NM_004656.3(BAP1):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/346175 ^@ NM_052859.3(RFT1):c.*450C>T http://identifiers.org/clinvar/346325 ^@ NM_001457.3(FLNB):c.2575+12C>T http://identifiers.org/clinvar/337646 ^@ NM_001298.2(CNGA3):c.-383A>G http://identifiers.org/clinvar/346675 ^@ NM_002942.4(ROBO2):c.94C>A (p.Arg32=) http://identifiers.org/clinvar/346725 ^@ NM_002942.4(ROBO2):c.*985C>T http://identifiers.org/clinvar/347225 ^@ NM_001963.5(EGF):c.47G>C (p.Ser16Thr) http://identifiers.org/clinvar/347275 ^@ NM_001963.5(EGF):c.*835G>A http://identifiers.org/clinvar/346225 ^@ NM_003392.4(WNT5A):c.*2918A>G http://identifiers.org/clinvar/346375 ^@ NM_001457.3(FLNB):c.*581C>T http://identifiers.org/clinvar/346475 ^@ NM_198859.3(PRICKLE2):c.1048C>T (p.Pro350Ser) http://identifiers.org/clinvar/346575 ^@ NM_032682.5(FOXP1):c.*3175dupA http://identifiers.org/clinvar/348264 ^@ NM_001151.3(SLC25A4):c.*1163G>T http://identifiers.org/clinvar/346775 ^@ NM_000158.3(GBE1):c.*558T>C http://identifiers.org/clinvar/348314 ^@ NM_207352.3(CYP4V2):c.1423A>G (p.Met475Val) http://identifiers.org/clinvar/361880 ^@ NM_004519.3(KCNQ3):c.1656C>T (p.Ala552=) http://identifiers.org/clinvar/362030 ^@ NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) http://identifiers.org/clinvar/353792 ^@ NM_002203.3(ITGA2):c.*475_*477delCAA http://identifiers.org/clinvar/362130 ^@ NM_000497.3(CYP11B1):c.*694T>C http://identifiers.org/clinvar/362630 ^@ NM_006158.4(NEFL):c.*878A>G http://identifiers.org/clinvar/362680 ^@ NM_000742.3(CHRNA2):c.*892T>A http://identifiers.org/clinvar/362730 ^@ NM_001017420.2(ESCO2):c.-17+15A>T http://identifiers.org/clinvar/358981 ^@ NM_005989.3(AKR1D1):c.*1163T>C http://identifiers.org/clinvar/359481 ^@ NM_058246.3(DNAJB6):c.*1236G>A http://identifiers.org/clinvar/359581 ^@ NM_001101426.3(ISPD):c.*79_*80dupTG http://identifiers.org/clinvar/363619 ^@ NM_020361.4(CPA6):c.-222_-220delGCT http://identifiers.org/clinvar/363769 ^@ NM_000318.2(PEX2):c.*2920_*2922delAAG http://identifiers.org/clinvar/363819 ^@ NM_000318.2(PEX2):c.-13delC http://identifiers.org/clinvar/364019 ^@ NM_001001557.3(GDF6):c.*767T>C http://identifiers.org/clinvar/359981 ^@ NM_006735.3(HOXA2):c.420C>T (p.Gly140=) http://identifiers.org/clinvar/364369 ^@ NM_005502.3(ABCA1):c.*337C>T http://identifiers.org/clinvar/364669 ^@ NM_000031.5(ALAD):c.-197G>T http://identifiers.org/clinvar/364819 ^@ NM_000177.4(GSN):c.1706G>A (p.Arg569His) http://identifiers.org/clinvar/356342 ^@ NM_006929.4(SKIV2L):c.2749G>A (p.Val917Met) http://identifiers.org/clinvar/356442 ^@ NM_021922.2(FANCE):c.216G>T (p.Pro72=) http://identifiers.org/clinvar/356192 ^@ NM_001080.3(ALDH5A1):c.*3253C>T http://identifiers.org/clinvar/356542 ^@ NM_182548.3(LHFPL5):c.*526_*527delTC http://identifiers.org/clinvar/356292 ^@ NM_001710.5(CFB):c.1693A>G (p.Lys565Glu) http://identifiers.org/clinvar/356642 ^@ NM_005943.5(MOCS1):c.*609G>A http://identifiers.org/clinvar/361170 ^@ NM_015713.4(RRM2B):c.*552G>A http://identifiers.org/clinvar/356692 ^@ NM_000409.4(GUCA1A):c.10G>A (p.Val4Met) http://identifiers.org/clinvar/361270 ^@ NM_178857.5(RP1L1):c.4662C>G (p.Asp1554Glu) http://identifiers.org/clinvar/356792 ^@ NM_000287.3(PEX6):c.2907G>C (p.Arg969=) http://identifiers.org/clinvar/356892 ^@ NM_006502.2(POLH):c.-195G>A http://identifiers.org/clinvar/361421 ^@ NM_178857.5(RP1L1):c.249A>G (p.Thr83=) http://identifiers.org/clinvar/361471 ^@ NM_001715.2(BLK):c.-46A>G http://identifiers.org/clinvar/356742 ^@ NM_002098.5(GUCA1B):c.-114A>G http://identifiers.org/clinvar/365909 ^@ NM_006412.3(AGPAT2):c.*212_*217dupGGCTCG http://identifiers.org/clinvar/361730 ^@ NM_014846.3(WASHC5):c.657A>G (p.Glu219=) http://identifiers.org/clinvar/357142 ^@ NM_001024630.3(RUNX2):c.*3218A>G http://identifiers.org/clinvar/357042 ^@ NM_020745.3(AARS2):c.*718C>A http://identifiers.org/clinvar/357092 ^@ NM_001024630.3(RUNX2):c.663A>G (p.Val221=) http://identifiers.org/clinvar/303211 ^@ NM_018400.3(SCN3B):c.-557C>T http://identifiers.org/clinvar/303261 ^@ NM_022370.3(ROBO3):c.2947T>C (p.Cys983Arg) http://identifiers.org/clinvar/303361 ^@ NM_145014.2(HYLS1):c.-81+27_-81+28dupAA http://identifiers.org/clinvar/303411 ^@ NM_016952.4(CDON):c.*2380_*2381insCACA http://identifiers.org/clinvar/366909 ^@ NM_001042413.1(GLIS3):c.*2828A>C http://identifiers.org/clinvar/303511 ^@ NM_016952.4(CDON):c.1826A>G (p.Asn609Ser) http://identifiers.org/clinvar/311659 ^@ NM_000059.3(BRCA2):c.-210A>G http://identifiers.org/clinvar/366959 ^@ NM_001042413.1(GLIS3):c.2027G>T (p.Cys676Phe) http://identifiers.org/clinvar/311809 ^@ NM_001127217.2(SMAD9):c.*3778C>A http://identifiers.org/clinvar/311909 ^@ NM_001127217.2(SMAD9):c.-110A>C http://identifiers.org/clinvar/312059 ^@ NM_207361.5(FREM2):c.*1694A>G http://identifiers.org/clinvar/367309 ^@ NM_017662.4(TRPM6):c.3514C>A (p.Arg1172=) http://identifiers.org/clinvar/364169 ^@ NM_004612.3(TGFBR1):c.*3432G>T http://identifiers.org/clinvar/298533 ^@ NM_022039.3(FBXW4):c.789G>A (p.Thr263=) http://identifiers.org/clinvar/312359 ^@ NM_000053.3(ATP7B):c.*1076A>T http://identifiers.org/clinvar/298783 ^@ NM_005445.3(SMC3):c.*329C>T http://identifiers.org/clinvar/312559 ^@ NM_005708.4(GPC6):c.*255G>A http://identifiers.org/clinvar/304350 ^@ NM_000280.4(PAX6):c.*356T>A http://identifiers.org/clinvar/364069 ^@ NM_014290.2(TDRD7):c.1629+11T>C http://identifiers.org/clinvar/304400 ^@ NM_024426.4(WT1):c.*574delG http://identifiers.org/clinvar/364119 ^@ NM_004612.3(TGFBR1):c.*1431G>T http://identifiers.org/clinvar/298883 ^@ NM_007373.3(SHOC2):c.*1486dupT http://identifiers.org/clinvar/298633 ^@ NM_017649.4(CNNM2):c.-65G>A http://identifiers.org/clinvar/298833 ^@ NM_001134363.2(RBM20):c.*1666G>A http://identifiers.org/clinvar/304800 ^@ NM_004813.2(PEX16):c.-184A>G http://identifiers.org/clinvar/304850 ^@ NM_002334.3(LRP4):c.4937G>A (p.Arg1646Gln) http://identifiers.org/clinvar/305000 ^@ NM_000518.4(HBB):c.*56A>T http://identifiers.org/clinvar/299572 ^@ NM_201590.2(CACNB2):c.*17T>C http://identifiers.org/clinvar/305152 ^@ NM_000327.3(ROM1):c.-494G>A http://identifiers.org/clinvar/314148 ^@ NM_031427.3(DNAL1):c.*7338C>T http://identifiers.org/clinvar/305302 ^@ NM_130799.2(MEN1):c.*470A>G http://identifiers.org/clinvar/305352 ^@ NM_032193.3(RNASEH2C):c.*385C>A http://identifiers.org/clinvar/299822 ^@ NM_021252.4(RAB18):c.*62C>T http://identifiers.org/clinvar/314498 ^@ NM_004452.3(ESRRB):c.*663G>A http://identifiers.org/clinvar/299522 ^@ NM_001081.3(CUBN):c.1681G>A (p.Asp561Asn) http://identifiers.org/clinvar/314648 ^@ NM_004863.3(SPTLC2):c.*838G>A http://identifiers.org/clinvar/299722 ^@ NM_014915.2(ANKRD26):c.*170G>A http://identifiers.org/clinvar/305852 ^@ NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) http://identifiers.org/clinvar/306002 ^@ NM_001145308.4(LRTOMT):c.860A>G (p.Tyr287Cys) http://identifiers.org/clinvar/300372 ^@ NM_018344.5(SLC29A3):c.*85G>A http://identifiers.org/clinvar/300422 ^@ NM_022124.5(CDH23):c.3186C>A (p.Thr1062=) http://identifiers.org/clinvar/299922 ^@ NM_020975.4(RET):c.*1020G>T http://identifiers.org/clinvar/300572 ^@ NM_004273.4(CHST3):c.*274C>T http://identifiers.org/clinvar/300622 ^@ NM_004273.4(CHST3):c.*1899G>A http://identifiers.org/clinvar/300672 ^@ NM_004273.4(CHST3):c.*4450G>C http://identifiers.org/clinvar/300072 ^@ NM_000124.3(ERCC6):c.2287-5C>T http://identifiers.org/clinvar/300822 ^@ NM_014000.2(VCL):c.*1841_*1842insA http://identifiers.org/clinvar/309665 ^@ NM_002272.3(KRT4):c.*30T>A http://identifiers.org/clinvar/329460 ^@ NM_000483.4(APOC2):c.*188_*189insT http://identifiers.org/clinvar/309915 ^@ NM_005379.3(MYO1A):c.1122G>C (p.Lys374Asn) http://identifiers.org/clinvar/329510 ^@ NM_000400.3(ERCC2):c.1644C>T (p.Thr548=) http://identifiers.org/clinvar/329560 ^@ NM_025136.3(OPA3):c.*6674T>C http://identifiers.org/clinvar/329610 ^@ NM_025136.3(OPA3):c.*4147_*4151delCCCTG http://identifiers.org/clinvar/310015 ^@ NM_001172696.1(TSFM):c.583G>T (p.Ala195Ser) http://identifiers.org/clinvar/329810 ^@ NM_002103.4(GYS1):c.1615G>A (p.Glu539Lys) http://identifiers.org/clinvar/311609 ^@ NM_018451.4(CENPJ):c.3769C>A (p.Pro1257Thr) http://identifiers.org/clinvar/329960 ^@ NM_024729.3(MYH14):c.*301C>T http://identifiers.org/clinvar/318429 ^@ NM_001089.2(ABCA3):c.3003C>T (p.Leu1001=) http://identifiers.org/clinvar/311709 ^@ NM_004795.3(KL):c.3008A>G (p.Tyr1003Cys) http://identifiers.org/clinvar/318379 ^@ NM_001039.3(SCNN1G):c.*1261G>A http://identifiers.org/clinvar/330160 ^@ NM_206828.3(NLRP7):c.2384G>A (p.Arg795His) http://identifiers.org/clinvar/330260 ^@ NM_006087.3(TUBB4A):c.1287G>A (p.Thr429=) http://identifiers.org/clinvar/318729 ^@ NM_001042432.1(CLN3):c.-129G>C http://identifiers.org/clinvar/330360 ^@ NM_000208.3(INSR):c.*3693G>A http://identifiers.org/clinvar/312009 ^@ NM_207361.5(FREM2):c.6459T>C (p.Thr2153=) http://identifiers.org/clinvar/318829 ^@ NM_000034.3(ALDOA):c.202G>C (p.Asp68His) http://identifiers.org/clinvar/330560 ^@ NM_006949.3(STXBP2):c.1616T>C (p.Met539Thr) http://identifiers.org/clinvar/318979 ^@ NM_004960.3(FUS):c.-54A>G http://identifiers.org/clinvar/312159 ^@ NM_020751.2(COG6):c.*1052A>G http://identifiers.org/clinvar/319029 ^@ NM_004960.3(FUS):c.*1908C>T http://identifiers.org/clinvar/312209 ^@ NM_014252.3(SLC25A15):c.*1855C>A http://identifiers.org/clinvar/338046 ^@ NM_033118.3(MYLK2):c.1225-13C>G http://identifiers.org/clinvar/338196 ^@ NM_006892.3(DNMT3B):c.*754G>A http://identifiers.org/clinvar/312709 ^@ NM_022489.3(INF2):c.3478G>A (p.Gly1160Ser) http://identifiers.org/clinvar/312759 ^@ NM_001145.4(ANG):c.-594C>A http://identifiers.org/clinvar/312809 ^@ NM_001126106.2(SLC7A7):c.1494T>C (p.Asp498=) http://identifiers.org/clinvar/311509 ^@ NM_014363.5(SACS):c.10716C>G (p.Pro3572=) http://identifiers.org/clinvar/311559 ^@ NM_014363.5(SACS):c.1728C>T (p.Tyr576=) http://identifiers.org/clinvar/338797 ^@ NM_000782.4(CYP24A1):c.*715C>G http://identifiers.org/clinvar/338947 ^@ NM_004738.4(VAPB):c.*1282A>G http://identifiers.org/clinvar/311759 ^@ NM_015087.4(SPG20):c.*524A>G http://identifiers.org/clinvar/339247 ^@ NM_017671.4(FERMT1):c.-343C>T http://identifiers.org/clinvar/339297 ^@ NM_001853.3(COL9A3):c.1570C>T (p.Arg524Cys) http://identifiers.org/clinvar/339397 ^@ NM_025219.2(DNAJC5):c.*1630C>T http://identifiers.org/clinvar/311959 ^@ NM_207361.5(FREM2):c.2602C>G (p.Leu868Val) http://identifiers.org/clinvar/313548 ^@ NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) http://identifiers.org/clinvar/313598 ^@ NM_182914.2(SYNE2):c.14203G>A (p.Val4735Ile) http://identifiers.org/clinvar/313648 ^@ NM_182914.2(SYNE2):c.19185T>C (p.His6395=) http://identifiers.org/clinvar/312109 ^@ NM_207361.5(FREM2):c.*5612T>G http://identifiers.org/clinvar/313998 ^@ NM_000021.3(PSEN1):c.*3632G>A http://identifiers.org/clinvar/312409 ^@ NM_001004127.2(ALG11):c.44G>C (p.Arg15Thr) http://identifiers.org/clinvar/340236 ^@ NM_130445.3(COL18A1):c.2085C>T (p.Asp695=) http://identifiers.org/clinvar/312459 ^@ NM_000115.4(EDNRB):c.*1412C>T http://identifiers.org/clinvar/314248 ^@ NM_000428.2(LTBP2):c.*1631C>T http://identifiers.org/clinvar/326821 ^@ NM_015559.2(SETBP1):c.*4753delA http://identifiers.org/clinvar/367898 ^@ NM_194277.2(FRMD7):c.*816G>A http://identifiers.org/clinvar/367948 ^@ NM_004840.2(ARHGEF6):c.-92_-91delTA http://identifiers.org/clinvar/367998 ^@ NM_000133.3(F9):c.108C>T (p.Asn36=) http://identifiers.org/clinvar/368048 ^@ NM_000033.3(ABCD1):c.1354C>T (p.Arg452Trp) http://identifiers.org/clinvar/327221 ^@ NM_001083962.1(TCF4):c.*5553delT http://identifiers.org/clinvar/368498 ^@ NM_000084.4(CLCN5):c.*1470C>T http://identifiers.org/clinvar/329260 ^@ NM_181882.2(PRX):c.3209G>A (p.Arg1070Gln) http://identifiers.org/clinvar/329310 ^@ NM_003573.2(LTBP4):c.1792C>G (p.Arg598Gly) http://identifiers.org/clinvar/327721 ^@ NM_005912.2(MC4R):c.-375G>T http://identifiers.org/clinvar/329710 ^@ NM_000554.5(CRX):c.*435delT http://identifiers.org/clinvar/329860 ^@ NM_017636.3(TRPM4):c.2210+11C>G http://identifiers.org/clinvar/330110 ^@ NM_015629.3(PRPF31):c.1416G>A (p.Val472=) http://identifiers.org/clinvar/330210 ^@ NM_001256714.1(DNAAF3):c.1507G>A (p.Ala503Thr) http://identifiers.org/clinvar/337746 ^@ NM_000214.2(JAG1):c.3343G>A (p.Val1115Met) http://identifiers.org/clinvar/337796 ^@ NM_006363.4(SEC23B):c.1483C>T (p.Arg495Cys) http://identifiers.org/clinvar/329360 ^@ NM_000709.3(BCKDHA):c.288+10G>A http://identifiers.org/clinvar/338346 ^@ NM_015474.3(SAMHD1):c.697-11A>G http://identifiers.org/clinvar/338396 ^@ NM_005461.4(MAFB):c.*795G>T http://identifiers.org/clinvar/338446 ^@ NM_000457.4(HNF4A):c.*765G>A http://identifiers.org/clinvar/338496 ^@ NM_000457.4(HNF4A):c.*3120T>C http://identifiers.org/clinvar/338546 ^@ NM_004994.2(MMP9):c.59C>T (p.Ala20Val) http://identifiers.org/clinvar/329760 ^@ NM_000554.5(CRX):c.*2375G>A http://identifiers.org/clinvar/338897 ^@ NM_002591.3(PCK1):c.*92C>T http://identifiers.org/clinvar/330060 ^@ NM_002739.4(PRKCG):c.441C>T (p.Pro147=) http://identifiers.org/clinvar/330310 ^@ NM_000064.3(C3):c.2203C>T (p.Arg735Trp) http://identifiers.org/clinvar/330410 ^@ NM_000208.3(INSR):c.*1116G>A http://identifiers.org/clinvar/330510 ^@ NM_006702.4(PNPLA6):c.-53T>C http://identifiers.org/clinvar/337846 ^@ NM_024411.4(PDYN):c.-381A>G http://identifiers.org/clinvar/338246 ^@ NM_032034.3(SLC4A11):c.1537+8C>T http://identifiers.org/clinvar/338146 ^@ NM_006892.3(DNMT3B):c.-274C>T http://identifiers.org/clinvar/340336 ^@ NM_001848.2(COL6A1):c.*260A>G http://identifiers.org/clinvar/340587 ^@ NM_014339.6(IL17RA):c.958T>C (p.Trp320Arg) http://identifiers.org/clinvar/340737 ^@ NM_014339.6(IL17RA):c.*5779dupA http://identifiers.org/clinvar/338746 ^@ NM_006420.2(ARFGEF2):c.*2898C>T http://identifiers.org/clinvar/340837 ^@ NM_004782.3(SNAP29):c.643C>T (p.Arg215Cys) http://identifiers.org/clinvar/340937 ^@ NM_016327.2(UPB1):c.1026C>T (p.Leu342=) http://identifiers.org/clinvar/341237 ^@ NM_000343.3(SLC5A1):c.208-13T>A http://identifiers.org/clinvar/341287 ^@ NM_000343.3(SLC5A1):c.*1455C>A http://identifiers.org/clinvar/390227 ^@ NM_014141.5(CNTNAP2):c.1083+17G>A http://identifiers.org/clinvar/385849 ^@ NM_000051.3(ATM):c.315C>T (p.Ile105=) http://identifiers.org/clinvar/392816 ^@ NM_000264.3(PTCH1):c.3932T>C (p.Leu1311Ser) http://identifiers.org/clinvar/390377 ^@ NM_015261.2(NCAPD3):c.384C>T (p.Gly128=) http://identifiers.org/clinvar/387438 ^@ NM_004329.2(BMPR1A):c.300T>C (p.Cys100=) http://identifiers.org/clinvar/387838 ^@ NM_005609.3(PYGM):c.975G>A (p.Thr325=) http://identifiers.org/clinvar/388288 ^@ NM_002335.3(LRP5):c.2445C>T (p.Asp815=) http://identifiers.org/clinvar/390177 ^@ NM_020987.4(ANK3):c.6812T>G (p.Met2271Arg) http://identifiers.org/clinvar/391077 ^@ NM_030962.3(SBF2):c.2536+13C>A http://identifiers.org/clinvar/379201 ^@ NM_000314.6(PTEN):c.209+17A>G http://identifiers.org/clinvar/392416 ^@ NM_002860.3(ALDH18A1):c.2098G>T (p.Val700Phe) http://identifiers.org/clinvar/390877 ^@ NM_006231.3(POLE):c.4380A>G (p.Ala1460=) http://identifiers.org/clinvar/385349 ^@ NM_006231.3(POLE):c.321G>A (p.Ala107=) http://identifiers.org/clinvar/393116 ^@ NM_003165.3(STXBP1):c.743C>T (p.Thr248Ile) http://identifiers.org/clinvar/385449 ^@ NM_021957.3(GYS2):c.303+19C>T http://identifiers.org/clinvar/378193 ^@ NM_000256.3(MYBPC3):c.2250G>A (p.Thr750=) http://identifiers.org/clinvar/392116 ^@ NM_213595.3(ISCU):c.339+14C>T http://identifiers.org/clinvar/385999 ^@ NM_021625.4(TRPV4):c.957G>A (p.Ser319=) http://identifiers.org/clinvar/390077 ^@ NM_001126106.2(SLC7A7):c.-162C>G http://identifiers.org/clinvar/390527 ^@ NM_002471.3(MYH6):c.4560A>G (p.Glu1520=) http://identifiers.org/clinvar/378243 ^@ NM_005002.4(NDUFA9):c.897-20A>G http://identifiers.org/clinvar/392316 ^@ NM_001844.4(COL2A1):c.3655G>T (p.Asp1219Tyr) http://identifiers.org/clinvar/387938 ^@ NM_002408.3(MGAT2):c.*11T>C http://identifiers.org/clinvar/390277 ^@ NM_024537.3(CARS2):c.1308G>A (p.Ala436=) http://identifiers.org/clinvar/378751 ^@ NM_001018005.1(TPM1):c.*5253C>T http://identifiers.org/clinvar/391027 ^@ NM_003978.4(PSTPIP1):c.687C>T (p.Asn229=) http://identifiers.org/clinvar/388388 ^@ NM_001271.3(CHD2):c.3455+19T>C http://identifiers.org/clinvar/391227 ^@ NM_001271.3(CHD2):c.4434C>T (p.Pro1478=) http://identifiers.org/clinvar/379001 ^@ NM_000218.2(KCNQ1):c.159C>T (p.Pro53=) http://identifiers.org/clinvar/392016 ^@ NM_133647.1(SLC12A6):c.876+8A>G http://identifiers.org/clinvar/390027 ^@ NM_004517.3(ILK):c.600C>T (p.Asn200=) http://identifiers.org/clinvar/386299 ^@ NM_024678.5(NARS2):c.423A>G (p.Gln141=) http://identifiers.org/clinvar/390727 ^@ NM_000138.4(FBN1):c.6768T>C (p.His2256=) http://identifiers.org/clinvar/385399 ^@ NM_000548.4(TSC2):c.3611-5C>T http://identifiers.org/clinvar/47464 ^@ NM_133378.4(TTN):c.79708C>A (p.Pro26570Thr) http://identifiers.org/clinvar/47514 ^@ NM_133378.4(TTN):c.84061G>A (p.Ala28021Thr) http://identifiers.org/clinvar/47564 ^@ NM_001256850.1(TTN):c.91217C>T (p.Thr30406Met) http://identifiers.org/clinvar/47614 ^@ NM_001256850.1(TTN):c.9150A>G (p.Thr3050=) http://identifiers.org/clinvar/47664 ^@ NM_133378.4(TTN):c.96242G>A (p.Arg32081Gln) http://identifiers.org/clinvar/47714 ^@ NM_133378.4(TTN):c.99133T>G (p.Ser33045Ala) http://identifiers.org/clinvar/47764 ^@ NM_133379.4(TTN):c.13936A>G (p.Lys4646Glu) http://identifiers.org/clinvar/9 ^@ NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) http://identifiers.org/clinvar/184 ^@ NM_001385.2(DPYS):c.1001A>G (p.Gln334Arg) http://identifiers.org/clinvar/193 ^@ NM_001080476.2(GRXCR1):c.628-9C>A http://identifiers.org/clinvar/211 ^@ NM_000285.3(PEPD):c.551G>A (p.Arg184Gln) http://identifiers.org/clinvar/418 ^@ NM_000290.3(PGAM2):c.233G>A (p.Trp78Ter) http://identifiers.org/clinvar/459 ^@ NM_000097.5(CPOX):c.1339C>T (p.Arg447Cys) http://identifiers.org/clinvar/586 ^@ NM_000277.1(PAH):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/709 ^@ NM_000512.4(GALNS):c.485C>T (p.Ser162Phe) http://identifiers.org/clinvar/808 ^@ NM_000038.5(APC):c.1690C>T (p.Arg564Ter) http://identifiers.org/clinvar/840 ^@ NM_000038.5(APC):c.1695delA (p.Val566Leufs) http://identifiers.org/clinvar/909 ^@ NM_173483.3(CYP4F22):c.1303C>T (p.His435Tyr) http://identifiers.org/clinvar/1146 ^@ NM_014362.3(HIBCH):c.79-3C>G http://identifiers.org/clinvar/1191 ^@ NM_001029871.3(RSPO4):c.319T>C (p.Cys107Arg) http://identifiers.org/clinvar/1236 ^@ NM_152419.2(HGSNAT):c.372-2A>G http://identifiers.org/clinvar/1287 ^@ NM_017837.3(PIGV):c.1022C>T (p.Ala341Val) http://identifiers.org/clinvar/1331 ^@ NM_024685.3(BBS10):c.931T>G (p.Ser311Ala) http://identifiers.org/clinvar/1377 ^@ NM_153704.5(TMEM67):c.958A>T (p.Ser320Cys) http://identifiers.org/clinvar/1422 ^@ NM_015506.2(MMACHC):c.347T>C (p.Leu116Pro) http://identifiers.org/clinvar/1468 ^@ HMBS, 2-BP DEL, 730CT http://identifiers.org/clinvar/1513 ^@ NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp) http://identifiers.org/clinvar/1559 ^@ NM_000237.2(LPL):c.1323-187A>G http://identifiers.org/clinvar/1603 ^@ RSPO1, 1-BP INS, 896G http://identifiers.org/clinvar/1653 ^@ NM_014043.3(CHMP2B):c.442G>T (p.Asp148Tyr) http://identifiers.org/clinvar/1699 ^@ NM_015040.3(PIKFYVE):c.2962C>T (p.Gln988Ter) http://identifiers.org/clinvar/1745 ^@ GIF, IVS1AS, G-A, -1 http://identifiers.org/clinvar/1795 ^@ NM_000102.3(CYP17A1):c.206_230del25 (p.Gly69Alafs) http://identifiers.org/clinvar/1885 ^@ NM_000255.3(MUT):c.2107G>C (p.Gly703Arg) http://identifiers.org/clinvar/1975 ^@ LRG_16:g.34081_34084delCAGAins17 http://identifiers.org/clinvar/2019 ^@ NM_001003841.2(SLC6A19):c.517G>A (p.Asp173Asn) http://identifiers.org/clinvar/2064 ^@ NM_018100.3(EFHC1):c.685T>C (p.Phe229Leu) http://identifiers.org/clinvar/2155 ^@ NM_017929.5(PEX26):c.668_814del (p.Gly223_Pro271del) http://identifiers.org/clinvar/2201 ^@ NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter) http://identifiers.org/clinvar/2247 ^@ NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) http://identifiers.org/clinvar/2292 ^@ NM_015046.5(SETX):c.5927T>G (p.Leu1976Arg) http://identifiers.org/clinvar/2384 ^@ NM_181776.2(SLC36A2):c.260G>T (p.Gly87Val) http://identifiers.org/clinvar/2429 ^@ NM_153006.2(NAGS):c.916-2A>T http://identifiers.org/clinvar/2841 ^@ NM_000019.3(ACAT1):c.1033_1035delGAA (p.Glu345del) http://identifiers.org/clinvar/10698 ^@ NM_000266.3(NDP):c.218C>A (p.Ser73Ter) http://identifiers.org/clinvar/10742 ^@ NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) http://identifiers.org/clinvar/10788 ^@ NM_194277.2(FRMD7):c.425T>G (p.Leu142Arg) http://identifiers.org/clinvar/10832 ^@ NM_004463.2(FGD1):c.1328G>T (p.Arg443Leu) http://identifiers.org/clinvar/10878 ^@ NM_000284.3(PDHA1):c.787C>G (p.Arg263Gly) http://identifiers.org/clinvar/11434 ^@ NM_003413.3(ZIC3):c.804C>A (p.Cys268Ter) http://identifiers.org/clinvar/11789 ^@ ATP7A, EX8 DEL http://identifiers.org/clinvar/11839 ^@ MECP2, 1-BP DEL AND 2-BP INS http://identifiers.org/clinvar/12794 ^@ NM_004959.4(NR5A1):c.104_105delGCinsAA (p.Gly35Glu) http://identifiers.org/clinvar/12844 ^@ NM_003126.2(SPTA1):c.779T>C (p.Leu260Pro) http://identifiers.org/clinvar/12895 ^@ NM_006920.4(SCN1A):c.4798G>T (p.Val1600Phe) http://identifiers.org/clinvar/12945 ^@ NM_000511.5(FUT2):c.461G>A (p.Trp154Ter) http://identifiers.org/clinvar/12996 ^@ NM_000540.2(RYR1):c.13013_13032del20 (p.Ala4338Glyfs) http://identifiers.org/clinvar/13047 ^@ NM_000539.3(RHO):c.151G>C (p.Gly51Arg) http://identifiers.org/clinvar/13098 ^@ RLBP1, IVS3, T-C, +2 http://identifiers.org/clinvar/13148 ^@ NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) http://identifiers.org/clinvar/13200 ^@ NM_001098668.3(SFTPA2):c.593T>C (p.Phe198Ser) http://identifiers.org/clinvar/13250 ^@ NM_002739.4(PRKCG):c.1081A>G (p.Ser361Gly) http://identifiers.org/clinvar/13302 ^@ NM_000506.3(F2):c.598G>A (p.Glu200Lys) http://identifiers.org/clinvar/13352 ^@ NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) http://identifiers.org/clinvar/13406 ^@ NM_000311.4(PRNP):c.695T>G (p.Met232Arg) http://identifiers.org/clinvar/13457 ^@ NM_000371.3(TTR):c.95T>C (p.Leu32Pro) http://identifiers.org/clinvar/13508 ^@ NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) http://identifiers.org/clinvar/13558 ^@ NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) http://identifiers.org/clinvar/37999 ^@ NM_000059.3(BRCA2):c.5828delC (p.Ser1943Leufs) http://identifiers.org/clinvar/38051 ^@ NM_000059.3(BRCA2):c.6541G>C (p.Gly2181Arg) http://identifiers.org/clinvar/38104 ^@ NM_000059.3(BRCA2):c.7565C>T (p.Ser2522Phe) http://identifiers.org/clinvar/38154 ^@ NM_000059.3(BRCA2):c.8331+1G>A http://identifiers.org/clinvar/38204 ^@ NM_000059.3(BRCA2):c.9026_9030delATCAT (p.Tyr3009Serfs) http://identifiers.org/clinvar/38981 ^@ NM_004614.4(TK2):c.218_219dupCG (p.Thr74Argfs) http://identifiers.org/clinvar/40460 ^@ NM_004985.4(KRAS):c.355G>A (p.Asp119Asn) http://identifiers.org/clinvar/40521 ^@ NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) http://identifiers.org/clinvar/40584 ^@ NM_002880.3(RAF1):c.94A>G (p.Ile32Val) http://identifiers.org/clinvar/40643 ^@ NM_005633.3(SOS1):c.195A>C (p.Arg65=) http://identifiers.org/clinvar/40734 ^@ NM_005633.3(SOS1):c.3729C>G (p.Asp1243Glu) http://identifiers.org/clinvar/40829 ^@ NM_030662.3(MAP2K2):c.856G>A (p.Gly286Arg) http://identifiers.org/clinvar/41007 ^@ NM_000399.4(EGR2):c.1076G>A (p.Arg359Gln) http://identifiers.org/clinvar/41064 ^@ NM_003611.2(OFD1):c.1185delA (p.Glu395Aspfs) http://identifiers.org/clinvar/41120 ^@ NM_003611.2(OFD1):c.412G>A (p.Gly138Ser) http://identifiers.org/clinvar/41173 ^@ NM_003977.3(AIP):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/41230 ^@ NM_004862.3(LITAF):c.403C>A (p.Pro135Thr) http://identifiers.org/clinvar/51236 ^@ NM_000059.3(BRCA2):c.2024C>G (p.Thr675Arg) http://identifiers.org/clinvar/51287 ^@ NM_000059.3(BRCA2):c.2446delG (p.Glu816Lysfs) http://identifiers.org/clinvar/51338 ^@ NM_000059.3(BRCA2):c.2765dupT (p.Lys923Glnfs) http://identifiers.org/clinvar/51388 ^@ NM_000059.3(BRCA2):c.3043A>T (p.Lys1015Ter) http://identifiers.org/clinvar/51439 ^@ NM_000059.3(BRCA2):c.3267_3268delGA (p.Gln1089Hisfs) http://identifiers.org/clinvar/51490 ^@ NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) http://identifiers.org/clinvar/51541 ^@ NM_000059.3(BRCA2):c.3849_3852delAAGT (p.Ser1284Lysfs) http://identifiers.org/clinvar/51593 ^@ NM_000059.3(BRCA2):c.4095T>A (p.Cys1365Ter) http://identifiers.org/clinvar/51645 ^@ NM_000059.3(BRCA2):c.441A>G (p.Gln147=) http://identifiers.org/clinvar/51696 ^@ NM_000059.3(BRCA2):c.4684C>T (p.Gln1562Ter) http://identifiers.org/clinvar/51747 ^@ NM_000059.3(BRCA2):c.4947_4948delAA (p.Pro1651Cysfs) http://identifiers.org/clinvar/51799 ^@ NM_000059.3(BRCA2):c.517-19C>T http://identifiers.org/clinvar/51851 ^@ NM_000059.3(BRCA2):c.538_539dupAT (p.Ser181Phefs) http://identifiers.org/clinvar/51903 ^@ NM_000059.3(BRCA2):c.5663A>G (p.Lys1888Arg) http://identifiers.org/clinvar/51955 ^@ NM_000059.3(BRCA2):c.5864C>G (p.Ser1955Ter) http://identifiers.org/clinvar/52007 ^@ NM_000059.3(BRCA2):c.6082_6086delGAAGA (p.Glu2028Lysfs) http://identifiers.org/clinvar/52058 ^@ NM_000059.3(BRCA2):c.631G>A (p.Val211Ile) http://identifiers.org/clinvar/52112 ^@ NM_000059.3(BRCA2):c.6469C>T (p.Gln2157Ter) http://identifiers.org/clinvar/52163 ^@ NM_000059.3(BRCA2):c.67+2T>C http://identifiers.org/clinvar/52213 ^@ NM_000059.3(BRCA2):c.6847C>G (p.Pro2283Ala) http://identifiers.org/clinvar/52264 ^@ NM_000059.3(BRCA2):c.7082_7100dup19 (p.Leu2368Phefs) http://identifiers.org/clinvar/52315 ^@ NM_000059.3(BRCA2):c.7379delA (p.Asn2460Thrfs) http://identifiers.org/clinvar/52365 ^@ NM_000059.3(BRCA2):c.7617+4T>C http://identifiers.org/clinvar/52416 ^@ NM_000059.3(BRCA2):c.7806-12T>C http://identifiers.org/clinvar/52466 ^@ NM_000059.3(BRCA2):c.7997G>C (p.Arg2666Thr) http://identifiers.org/clinvar/52516 ^@ NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala) http://identifiers.org/clinvar/52567 ^@ NM_000059.3(BRCA2):c.8368A>T (p.Thr2790Ser) http://identifiers.org/clinvar/52617 ^@ NM_000059.3(BRCA2):c.8545A>G (p.Lys2849Glu) http://identifiers.org/clinvar/52669 ^@ NM_000059.3(BRCA2):c.8754+4A>G http://identifiers.org/clinvar/53267 ^@ NM_000492.3(CFTR):c.1494G>C (p.Met498Ile) http://identifiers.org/clinvar/53318 ^@ NM_000492.3(CFTR):c.165-50A>G http://identifiers.org/clinvar/53368 ^@ NM_000492.3(CFTR):c.173A>G (p.Asp58Gly) http://identifiers.org/clinvar/53418 ^@ NM_000492.3(CFTR):c.1976delA (p.Asn659Ilefs) http://identifiers.org/clinvar/53472 ^@ NM_000492.3(CFTR):c.2297G>T (p.Arg766Met) http://identifiers.org/clinvar/53523 ^@ NM_000492.3(CFTR):c.2602delG (p.Val868Terfs) http://identifiers.org/clinvar/53573 ^@ NM_000492.3(CFTR):c.2816A>G (p.His939Arg) http://identifiers.org/clinvar/53624 ^@ NM_000492.3(CFTR):c.3007G>T (p.Gly1003Ter) http://identifiers.org/clinvar/53676 ^@ NM_000492.3(CFTR):c.3194T>G (p.Leu1065Arg) http://identifiers.org/clinvar/53726 ^@ NM_000492.3(CFTR):c.3367G>C (p.Gly1123Arg) http://identifiers.org/clinvar/53777 ^@ NM_000492.3(CFTR):c.3605delA (p.Asp1202Alafs) http://identifiers.org/clinvar/53829 ^@ NM_000492.3(CFTR):c.3873+33A>G http://identifiers.org/clinvar/53881 ^@ NM_000492.3(CFTR):c.4051A>G (p.Lys1351Glu) http://identifiers.org/clinvar/53932 ^@ NM_000492.3(CFTR):c.4243-2A>C http://identifiers.org/clinvar/53982 ^@ NM_000492.3(CFTR):c.500T>G (p.Leu167Arg) http://identifiers.org/clinvar/54032 ^@ NM_000492.3(CFTR):c.642_643insT (p.Ile215Tyrfs) http://identifiers.org/clinvar/54084 ^@ NM_000492.3(CFTR):c.913T>G (p.Phe305Val) http://identifiers.org/clinvar/54134 ^@ NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter) http://identifiers.org/clinvar/54184 ^@ NM_007294.3(BRCA1):c.1276delT (p.Ser426Glnfs) http://identifiers.org/clinvar/54234 ^@ NM_007294.3(BRCA1):c.1387_1390delAAAAinsGAAAG (p.Lys463Glufs) http://identifiers.org/clinvar/54285 ^@ NM_007294.3(BRCA1):c.1523delC (p.Pro508Leufs) http://identifiers.org/clinvar/54335 ^@ NM_007294.3(BRCA1):c.1729G>T (p.Glu577Ter) http://identifiers.org/clinvar/54386 ^@ NM_007294.3(BRCA1):c.1897C>A (p.Pro633Thr) http://identifiers.org/clinvar/54436 ^@ NM_007294.3(BRCA1):c.2017G>T (p.Glu673Ter) http://identifiers.org/clinvar/54486 ^@ NM_007294.3(BRCA1):c.2180C>T (p.Pro727Leu) http://identifiers.org/clinvar/54536 ^@ NM_007294.3(BRCA1):c.2329delT (p.Tyr777Metfs) http://identifiers.org/clinvar/54586 ^@ NM_007294.3(BRCA1):c.2488_2497dupAAGTATCCAT (p.Leu833Terfs) http://identifiers.org/clinvar/54636 ^@ NM_007294.3(BRCA1):c.2670delG (p.Ser891Profs) http://identifiers.org/clinvar/55141 ^@ NM_007294.3(BRCA1):c.4205A>G (p.His1402Arg) http://identifiers.org/clinvar/56155 ^@ NM_014585.5(SLC40A1):c.262A>G (p.Arg88Gly) http://identifiers.org/clinvar/56206 ^@ NM_000310.3(PPT1):c.560A>G (p.His187Arg) http://identifiers.org/clinvar/56257 ^@ NM_001042432.1(CLN3):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/56307 ^@ NM_001080522.2(CC2D2A):c.3544T>C (p.Trp1182Arg) http://identifiers.org/clinvar/56359 ^@ NM_001126105.2(SLC7A7):c.1402C>T (p.Arg468Ter) http://identifiers.org/clinvar/56411 ^@ NM_004328.4(BCS1L):c.-50+155T>A http://identifiers.org/clinvar/56461 ^@ NM_004646.3(NPHS1):c.2072-6C>G http://identifiers.org/clinvar/56511 ^@ NM_004646.3(NPHS1):c.518T>A (p.Ile173Asn) http://identifiers.org/clinvar/56562 ^@ NM_015272.4(RPGRIP1L):c.723_726delTGAA (p.Asn241Lysfs) http://identifiers.org/clinvar/56618 ^@ NM_017777.3(MKS1):c.1490G>A (p.Arg497Lys) http://identifiers.org/clinvar/56670 ^@ NM_017890.4(VPS13B):c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer) http://identifiers.org/clinvar/56720 ^@ NM_018941.3(CLN8):c.88delG (p.Ala30Leufs) http://identifiers.org/clinvar/56770 ^@ NM_153704.5(TMEM67):c.2002T>C (p.Trp668Arg) http://identifiers.org/clinvar/56903 ^@ NM_005664.3(MKRN3):c.1095G>T (p.Arg365Ser) http://identifiers.org/clinvar/57030 ^@ GRCh38/hg38 21q21.3-22.11(chr21:29850105-30680142)x3 http://identifiers.org/clinvar/57085 ^@ GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 http://identifiers.org/clinvar/57140 ^@ GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1 http://identifiers.org/clinvar/57190 ^@ GRCh38/hg38 14q32.33(chr14:105939848-106451054)x1 http://identifiers.org/clinvar/57243 ^@ GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1 http://identifiers.org/clinvar/57297 ^@ GRCh38/hg38 17q21.31(chr17:46176989-46742963)x1 http://identifiers.org/clinvar/57350 ^@ GRCh38/hg38 3p13(chr3:70418081-71438421)x1 http://identifiers.org/clinvar/57401 ^@ GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 http://identifiers.org/clinvar/126480 ^@ NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) http://identifiers.org/clinvar/126567 ^@ NM_024675.3(PALB2):c.*232G>T http://identifiers.org/clinvar/126617 ^@ NM_024675.3(PALB2):c.1684+39_1684+41del http://identifiers.org/clinvar/126669 ^@ NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) http://identifiers.org/clinvar/126719 ^@ NM_024675.3(PALB2):c.3201+1125T>C http://identifiers.org/clinvar/126874 ^@ NM_000610.3(CD44):c.68-5843A>G http://identifiers.org/clinvar/126930 ^@ NM_001127464.2(ZNF469):c.720G>A (p.Glu240=) http://identifiers.org/clinvar/126980 ^@ NM_000251.2(MSH2):c.2179G>T (p.Ala727Ser) http://identifiers.org/clinvar/127030 ^@ NM_005591.3(MRE11):c.1480G>A (p.Glu494Lys) http://identifiers.org/clinvar/127082 ^@ NM_016630.6(SPG21):c.322G>C (p.Ala108Pro) http://identifiers.org/clinvar/127154 ^@ NM_025132.3(WDR19):c.641dupT (p.Leu214Phefs) http://identifiers.org/clinvar/127253 ^@ NM_001127255.1(NLRP7):c.-213G>T http://identifiers.org/clinvar/127304 ^@ NM_000038.5(APC):c.5302A>G (p.Lys1768Glu) http://identifiers.org/clinvar/127354 ^@ NM_000051.3(ATM):c.2578G>A (p.Asp860Asn) http://identifiers.org/clinvar/127404 ^@ NM_000051.3(ATM):c.5250G>T (p.Trp1750Cys) http://identifiers.org/clinvar/127454 ^@ NM_000051.3(ATM):c.8113G>A (p.Val2705Ile) http://identifiers.org/clinvar/127505 ^@ NM_000057.3(BLM):c.3892G>A (p.Gly1298Arg) http://identifiers.org/clinvar/127555 ^@ NM_000179.2(MSH6):c.1168G>A (p.Asp390Asn) http://identifiers.org/clinvar/127605 ^@ NM_000179.2(MSH6):c.817G>A (p.Gly273Arg) http://identifiers.org/clinvar/127656 ^@ NM_000314.4:c.-(1087_1062)delGCTCGCACCCAGAGCTACCGCTCTGC http://identifiers.org/clinvar/127715 ^@ NM_000465.3(BARD1):c.1540C>G (p.Leu514Val) http://identifiers.org/clinvar/127765 ^@ NM_000535.6(PMS2):c.166C>G (p.Leu56Val) http://identifiers.org/clinvar/127816 ^@ NM_000546.5(TP53):c.572C>G (p.Pro191Arg) http://identifiers.org/clinvar/161403 ^@ NM_000551.3(VHL):c.556G>A (p.Glu186Lys) http://identifiers.org/clinvar/161302 ^@ NM_000256.3(MYBPC3):c.2035C>T (p.Pro679Ser) http://identifiers.org/clinvar/161621 ^@ NM_004238.2(TRIP12):c.724C>A (p.Pro242Thr) http://identifiers.org/clinvar/161671 ^@ NM_014243.2(ADAMTS3):c.64G>T (p.Gly22Ter) http://identifiers.org/clinvar/161721 ^@ NM_018695.3(ERBIN):c.3755A>T (p.Tyr1252Phe) http://identifiers.org/clinvar/161771 ^@ NM_024870.3(PREX2):c.1444-4G>A http://identifiers.org/clinvar/161521 ^@ NM_001127608.2(FAM189A2):c.704-7delA http://identifiers.org/clinvar/161821 ^@ NM_153226.3(SLC35G1):c.424G>A (p.Ala142Thr) http://identifiers.org/clinvar/161571 ^@ NM_001205119.1(ATG13):c.1576-1G>C http://identifiers.org/clinvar/161471 ^@ NM_000720.3(CACNA1D):c.3539delA (p.Glu1182Serfs) http://identifiers.org/clinvar/161985 ^@ NM_002769.4(PRSS1):c.343T>A (p.Ser115Thr) http://identifiers.org/clinvar/162051 ^@ NM_021830.4(TWNK):c.1519G>A (p.Val507Ile) http://identifiers.org/clinvar/162111 ^@ NM_005211.3(CSF1R):c.2330G>A (p.Arg777Gln) http://identifiers.org/clinvar/162170 ^@ NM_004612.3(TGFBR1):c.1131-402T>G http://identifiers.org/clinvar/162382 ^@ NM_152778.2(MFSD8):c.1444C>T (p.Arg482Ter) http://identifiers.org/clinvar/162463 ^@ NM_005633.3(SOS1):c.1010A>G (p.Tyr337Cys) http://identifiers.org/clinvar/162516 ^@ NM_005360.4(MAF):c.176C>T (p.Pro59Leu) http://identifiers.org/clinvar/162597 ^@ NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) http://identifiers.org/clinvar/165769 ^@ NM_133378.4(TTN):c.80101G>A (p.Val26701Ile) http://identifiers.org/clinvar/165895 ^@ NM_133378.4(TTN):c.57667G>A (p.Gly19223Ser) http://identifiers.org/clinvar/166465 ^@ NM_206933.2(USH2A):c.9258+15T>C http://identifiers.org/clinvar/166094 ^@ NM_133378.4(TTN):c.31709T>C (p.Ile10570Thr) http://identifiers.org/clinvar/166233 ^@ NM_001256850.1(TTN):c.12548A>G (p.Lys4183Arg) http://identifiers.org/clinvar/166283 ^@ NM_133379.4(TTN):c.10880G>C (p.Gly3627Ala) http://identifiers.org/clinvar/166338 ^@ NM_133378.4(TTN):c.2264C>T (p.Ser755Leu) http://identifiers.org/clinvar/163028 ^@ NM_001927.3(DES):c.1189G>A (p.Ala397Thr) http://identifiers.org/clinvar/164844 ^@ NM_194248.2(OTOF):c.4440G>T (p.Met1480Ile) http://identifiers.org/clinvar/163151 ^@ NM_001369.2(DNAH5):c.3987A>G (p.Lys1329=) http://identifiers.org/clinvar/165977 ^@ NM_133378.4(TTN):c.46474G>A (p.Val15492Ile) http://identifiers.org/clinvar/165395 ^@ NM_003242.5(TGFBR2):c.1524+1G>A http://identifiers.org/clinvar/165499 ^@ NM_003280.2(TNNC1):c.74_82delACATCTTCG (p.Asp25_Phe27del) http://identifiers.org/clinvar/163101 ^@ NM_001277115.1(DNAH11):c.3256-10C>G http://identifiers.org/clinvar/163337 ^@ NM_005228.4(EGFR):c.2230_2249del20insGTCAA (p.Ile744_Ala750delinsValLys) http://identifiers.org/clinvar/165235 ^@ NM_172244.2(SGCD):c.771A>C (p.Ter257Cys) http://identifiers.org/clinvar/198437 ^@ NM_000823.3(GHRHR):c.673G>A (p.Val225Ile) http://identifiers.org/clinvar/198489 ^@ NM_003073.4(SMARCB1):c.888G>T (p.Lys296Asn) http://identifiers.org/clinvar/198542 ^@ NM_006516.2(SLC2A1):c.907dupG (p.Val303Glyfs) http://identifiers.org/clinvar/198594 ^@ NM_024887.3(DHDDS):c.591T>G (p.Ser197=) http://identifiers.org/clinvar/198645 ^@ NM_000540.2(RYR1):c.10504C>T (p.Arg3502Trp) http://identifiers.org/clinvar/198696 ^@ NM_000203.4(IDUA):c.1163C>A (p.Thr388Lys) http://identifiers.org/clinvar/198751 ^@ NM_000806.5(GABRA1):c.612C>T (p.Arg204=) http://identifiers.org/clinvar/198856 ^@ NM_014391.2(ANKRD1):c.818T>C (p.Met273Thr) http://identifiers.org/clinvar/199225 ^@ NM_033071.3(SYNE1):c.17544C>T (p.Ser5848=) http://identifiers.org/clinvar/201207 ^@ NM_001035.2(RYR2):c.1066T>G (p.Tyr356Asp) http://identifiers.org/clinvar/201374 ^@ NM_001035.2(RYR2):c.1454G>A (p.Arg485Gln) http://identifiers.org/clinvar/201263 ^@ NM_001035.2(RYR2):c.6455A>G (p.Asn2152Ser) http://identifiers.org/clinvar/201317 ^@ NM_001035.2(RYR2):c.11959G>A (p.Glu3987Lys) http://identifiers.org/clinvar/201544 ^@ NM_198056.2(SCN5A):c.5740A>G (p.Arg1914Gly) http://identifiers.org/clinvar/201601 ^@ NM_198056.2(SCN5A):c.4612_4616dupATCTG (p.Cys1539Terfs) http://identifiers.org/clinvar/201486 ^@ NM_198056.2(SCN5A):c.2962C>T (p.Arg988Trp) http://identifiers.org/clinvar/201430 ^@ NM_198056.2(SCN5A):c.359T>C (p.Ile120Thr) http://identifiers.org/clinvar/201088 ^@ NM_002474.2(MYH11):c.5581G>A (p.Glu1861Lys) http://identifiers.org/clinvar/201150 ^@ NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) http://identifiers.org/clinvar/201933 ^@ NM_144573.3(NEXN):c.1911C>A (p.Tyr637Ter) http://identifiers.org/clinvar/201714 ^@ NM_001927.3(DES):c.1371+1G>A http://identifiers.org/clinvar/202046 ^@ NM_001134363.2(RBM20):c.2116C>A (p.Pro706Thr) http://identifiers.org/clinvar/201877 ^@ NM_032578.3(MYPN):c.3916G>A (p.Val1306Met) http://identifiers.org/clinvar/202164 ^@ NM_014000.2(VCL):c.292G>A (p.Asp98Asn) http://identifiers.org/clinvar/201657 ^@ NM_014391.2(ANKRD1):c.346-14_346-9delTATTTT http://identifiers.org/clinvar/201989 ^@ NM_004572.3(PKP2):c.1689-1G>C http://identifiers.org/clinvar/202105 ^@ NM_003673.3(TCAP):c.353C>T (p.Ala118Val) http://identifiers.org/clinvar/201825 ^@ NM_002230.2(JUP):c.1582G>A (p.Val528Ile) http://identifiers.org/clinvar/201769 ^@ NM_001390.4(DTNA):c.*2579C>T http://identifiers.org/clinvar/202214 ^@ NC_000023.10:g.(?_907817)_(1244544_?)dup http://identifiers.org/clinvar/202500 ^@ NM_001256850.1(TTN):c.100475delC (p.Thr33492Lysfs) http://identifiers.org/clinvar/202337 ^@ NM_133378.4(TTN):c.89732G>A (p.Arg29911His) http://identifiers.org/clinvar/230686 ^@ NM_005732.3(RAD50):c.912A>G (p.Leu304=) http://identifiers.org/clinvar/230386 ^@ NM_005732.3(RAD50):c.3497G>T (p.Arg1166Leu) http://identifiers.org/clinvar/230036 ^@ NM_000535.6(PMS2):c.2446-5_2446-2delCTCA http://identifiers.org/clinvar/232626 ^@ NM_000535.6(PMS2):c.1305C>T (p.His435=) http://identifiers.org/clinvar/232676 ^@ NM_000535.6(PMS2):c.46A>G (p.Lys16Glu) http://identifiers.org/clinvar/231825 ^@ NM_002485.4(NBN):c.38-5C>T http://identifiers.org/clinvar/230836 ^@ NM_000051.3(ATM):c.246A>G (p.Val82=) http://identifiers.org/clinvar/232475 ^@ NM_000051.3(ATM):c.2802C>G (p.Ser934Arg) http://identifiers.org/clinvar/233576 ^@ NM_000051.3(ATM):c.3371A>T (p.Tyr1124Phe) http://identifiers.org/clinvar/230536 ^@ NM_000051.3(ATM):c.3937G>C (p.Glu1313Gln) http://identifiers.org/clinvar/230086 ^@ NM_000051.3(ATM):c.4656T>C (p.Asn1552=) http://identifiers.org/clinvar/229836 ^@ NM_000051.3(ATM):c.5707A>G (p.Lys1903Glu) http://identifiers.org/clinvar/230986 ^@ NM_000051.3(ATM):c.7332G>C (p.Glu2444Asp) http://identifiers.org/clinvar/230936 ^@ NM_005591.3(MRE11):c.1810C>T (p.Arg604Cys) http://identifiers.org/clinvar/233426 ^@ NM_005591.3(MRE11):c.259C>G (p.Arg87Gly) http://identifiers.org/clinvar/230786 ^@ NM_000059.3(BRCA2):c.1592A>C (p.Lys531Thr) http://identifiers.org/clinvar/229986 ^@ NM_000059.3(BRCA2):c.2415T>C (p.Ser805=) http://identifiers.org/clinvar/232075 ^@ NM_000059.3(BRCA2):c.5244C>T (p.Ser1748=) http://identifiers.org/clinvar/232025 ^@ NM_000059.3(BRCA2):c.7711G>A (p.Glu2571Lys) http://identifiers.org/clinvar/229936 ^@ NM_000059.3(BRCA2):c.8286T>G (p.Pro2762=) http://identifiers.org/clinvar/232876 ^@ NM_000059.3(BRCA2):c.10189T>A (p.Ser3397Thr) http://identifiers.org/clinvar/232225 ^@ NM_024675.3(PALB2):c.3417T>G (p.Ile1139Met) http://identifiers.org/clinvar/233626 ^@ NM_024675.3(PALB2):c.2076G>C (p.Gln692His) http://identifiers.org/clinvar/231975 ^@ NM_004360.4(CDH1):c.650C>T (p.Thr217Ile) http://identifiers.org/clinvar/232575 ^@ NM_001042492.2(NF1):c.551A>G (p.Asn184Ser) http://identifiers.org/clinvar/229886 ^@ NM_001042492.2(NF1):c.742A>G (p.Lys248Glu) http://identifiers.org/clinvar/233476 ^@ NM_001042492.2(NF1):c.3679C>T (p.Leu1227=) http://identifiers.org/clinvar/230886 ^@ NM_001042492.2(NF1):c.3843C>T (p.Ala1281=) http://identifiers.org/clinvar/230136 ^@ NM_001042492.2(NF1):c.4635C>T (p.Tyr1545=) http://identifiers.org/clinvar/233026 ^@ NM_001042492.2(NF1):c.5269-1G>A http://identifiers.org/clinvar/233126 ^@ NM_001042492.2(NF1):c.5730dupT (p.Ile1911Tyrfs) http://identifiers.org/clinvar/230286 ^@ NM_001042492.2(NF1):c.5947A>G (p.Ile1983Val) http://identifiers.org/clinvar/230336 ^@ NM_001042492.2(NF1):c.6671A>G (p.Lys2224Arg) http://identifiers.org/clinvar/230736 ^@ NM_002878.3(RAD51D):c.952G>A (p.Glu318Lys) http://identifiers.org/clinvar/230436 ^@ NM_002878.3(RAD51D):c.839C>G (p.Thr280Ser) http://identifiers.org/clinvar/230636 ^@ NM_002878.3(RAD51D):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/233076 ^@ NM_002878.3(RAD51D):c.209A>G (p.Asp70Gly) http://identifiers.org/clinvar/233526 ^@ NM_007294.3(BRCA1):c.2195A>C (p.Glu732Ala) http://identifiers.org/clinvar/232425 ^@ NM_032043.2(BRIP1):c.2840A>G (p.Gln947Arg) http://identifiers.org/clinvar/230586 ^@ NM_032043.2(BRIP1):c.2831A>G (p.Gln944Arg) http://identifiers.org/clinvar/230186 ^@ NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) http://identifiers.org/clinvar/232726 ^@ NM_032043.2(BRIP1):c.186A>G (p.Ala62=) http://identifiers.org/clinvar/232776 ^@ NM_000546.5(TP53):c.54A>G (p.Thr18=) http://identifiers.org/clinvar/232325 ^@ NM_007194.3(CHEK2):c.831G>C (p.Leu277Phe) http://identifiers.org/clinvar/232826 ^@ NM_007194.3(CHEK2):c.520C>A (p.Leu174Ile) http://identifiers.org/clinvar/235043 ^@ NM_174936.3(PCSK9):c.63_65dupGCT (p.Leu23_Gly24insLeu) http://identifiers.org/clinvar/234993 ^@ NM_000169.2(GLA):c.1125_1140del16 (p.Val376Profs) http://identifiers.org/clinvar/235093 ^@ NM_032890.3(DISP1):c.2898G>A (p.Trp966Ter) http://identifiers.org/clinvar/235230 ^@ NM_020631.4(PLEKHG5):c.2594A>G (p.Gln865Arg) http://identifiers.org/clinvar/235284 ^@ NM_016373.3(WWOX):c.1141C>T (p.Arg381Cys) http://identifiers.org/clinvar/235336 ^@ NM_000789.3(ACE):c.1522C>T (p.Arg508Ter) http://identifiers.org/clinvar/235389 ^@ NM_030928.3(CDT1):c.1436G>T (p.Cys479Phe) http://identifiers.org/clinvar/235445 ^@ NM_001048166.1(STIL):c.1055G>A (p.Arg352His) http://identifiers.org/clinvar/235497 ^@ NM_032374.4(APOPT1):c.263A>G (p.Asn88Ser) http://identifiers.org/clinvar/235550 ^@ NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) http://identifiers.org/clinvar/235601 ^@ NM_004483.4(GCSH):c.293-9dupT http://identifiers.org/clinvar/235652 ^@ NC_012920.1:m.2483T>C http://identifiers.org/clinvar/235707 ^@ NC_012920.1:m.8410C>T http://identifiers.org/clinvar/235769 ^@ NM_153603.3(COG7):c.1135C>G (p.Leu379Val) http://identifiers.org/clinvar/235841 ^@ NM_022068.3(PIEZO2):c.6668C>T (p.Ser2223Leu) http://identifiers.org/clinvar/235922 ^@ NM_001168272.1(ITPR1):c.7615G>A (p.Gly2539Arg) http://identifiers.org/clinvar/237108 ^@ NM_000143.3(FH):c.1184C>T (p.Thr395Ile) http://identifiers.org/clinvar/239554 ^@ NM_003738.4(PTCH2):c.1425G>A (p.Ala475=) http://identifiers.org/clinvar/238861 ^@ NM_001267550.2(TTN):c.88311T>C (p.Gly29437=) http://identifiers.org/clinvar/238811 ^@ NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys) http://identifiers.org/clinvar/238761 ^@ NM_001267550.2(TTN):c.37722T>C (p.Val12574=) http://identifiers.org/clinvar/238711 ^@ NM_001267550.2(TTN):c.16093A>C (p.Asn5365His) http://identifiers.org/clinvar/237811 ^@ NM_000465.3(BARD1):c.1006T>G (p.Cys336Gly) http://identifiers.org/clinvar/239804 ^@ NM_004304.4(ALK):c.2343C>T (p.Asp781=) http://identifiers.org/clinvar/238111 ^@ NM_000551.3(VHL):c.541G>A (p.Val181Ile) http://identifiers.org/clinvar/237761 ^@ NM_000388.3(CASR):c.1974G>T (p.Leu658=) http://identifiers.org/clinvar/240054 ^@ NM_004656.3(BAP1):c.1962A>C (p.Val654=) http://identifiers.org/clinvar/238611 ^@ NM_001166110.1(PALLD):c.475C>T (p.Leu159=) http://identifiers.org/clinvar/239504 ^@ NM_003122.4(SPINK1):c.-22C>T http://identifiers.org/clinvar/239654 ^@ NM_004168.3(SDHA):c.1657G>A (p.Asp553Asn) http://identifiers.org/clinvar/238211 ^@ NM_001014.4(RPS10):c.231G>A (p.Gln77=) http://identifiers.org/clinvar/261814 ^@ NM_025074.6(FRAS1):c.7371+11T>C http://identifiers.org/clinvar/262064 ^@ NM_032446.2(MEGF10):c.174G>A (p.Thr58=) http://identifiers.org/clinvar/263103 ^@ NM_198253.2(TERT):c.1769+16G>A http://identifiers.org/clinvar/258514 ^@ NM_001999.3(FBN2):c.2863+23G>T http://identifiers.org/clinvar/258064 ^@ NM_001369.2(DNAH5):c.8805G>C (p.Met2935Ile) http://identifiers.org/clinvar/258014 ^@ NM_001369.2(DNAH5):c.269C>A (p.Ala90Glu) http://identifiers.org/clinvar/263053 ^@ NM_182925.4(FLT4):c.3908G>C (p.Gly1303Ala) http://identifiers.org/clinvar/261664 ^@ NM_023073.3(C5orf42):c.*14T>C http://identifiers.org/clinvar/256075 ^@ NM_000426.3(LAMA2):c.5280G>A (p.Glu1760=) http://identifiers.org/clinvar/262164 ^@ NM_033071.3(SYNE1):c.1484+24G>T http://identifiers.org/clinvar/261114 ^@ NM_019105.6(TNXB):c.11623G>A (p.Val3875Ile) http://identifiers.org/clinvar/261164 ^@ NM_019105.6(TNXB):c.7790G>A (p.Arg2597Gln) http://identifiers.org/clinvar/261064 ^@ NM_018965.3(TREM2):c.259G>A (p.Asp87Asn) http://identifiers.org/clinvar/257914 ^@ NM_001277115.1(DNAH11):c.5924+19A>G http://identifiers.org/clinvar/257864 ^@ NM_001277115.1(DNAH11):c.12530C>T (p.Ala4177Val) http://identifiers.org/clinvar/257264 ^@ NM_001040167.1(LFNG):c.1002C>T (p.Tyr334=) http://identifiers.org/clinvar/255425 ^@ NM_000168.5(GLI3):c.1813-47G>A http://identifiers.org/clinvar/261964 ^@ NM_031443.3(CCM2):c.1054+12C>T http://identifiers.org/clinvar/258164 ^@ NM_001540.3(HSPB1):c.*11C>T http://identifiers.org/clinvar/255175 ^@ NM_000127.2(EXT1):c.1761G>A (p.Glu587=) http://identifiers.org/clinvar/256175 ^@ NM_000445.4(PLEC):c.3921+48A>G http://identifiers.org/clinvar/261314 ^@ NM_020476.2(ANK1):c.4974C>T (p.Asp1658=) http://identifiers.org/clinvar/260914 ^@ NM_017780.3(CHD7):c.7221C>T (p.Ile2407=) http://identifiers.org/clinvar/255075 ^@ NM_000093.4(COL5A1):c.3007-19A>G http://identifiers.org/clinvar/255275 ^@ NM_000136.2(FANCC):c.408A>G (p.Gln136=) http://identifiers.org/clinvar/255675 ^@ NM_000264.3(PTCH1):c.2250+25T>C http://identifiers.org/clinvar/261764 ^@ NM_024747.5(HPS6):c.2250G>A (p.Ser750=) http://identifiers.org/clinvar/256275 ^@ NM_000494.3(COL17A1):c.4109A>G (p.Asp1370Gly) http://identifiers.org/clinvar/262114 ^@ NM_032844.4(MASTL):c.1010C>A (p.Thr337Lys) http://identifiers.org/clinvar/261714 ^@ NM_024426.4(WT1):c.681C>T (p.Ser227=) http://identifiers.org/clinvar/255625 ^@ NM_000256.3(MYBPC3):c.3627+49C>T http://identifiers.org/clinvar/258664 ^@ NM_002465.3(MYBPC1):c.420C>T (p.Thr140=) http://identifiers.org/clinvar/261414 ^@ NM_021625.4(TRPV4):c.1584+18G>C http://identifiers.org/clinvar/261464 ^@ NM_021957.3(GYS2):c.1229+40T>C http://identifiers.org/clinvar/261214 ^@ NM_020297.3(ABCC9):c.1660-43C>A http://identifiers.org/clinvar/258214 ^@ NM_001844.4(COL2A1):c.1680+17C>T http://identifiers.org/clinvar/258264 ^@ NM_001845.5(COL4A1):c.85-11T>C http://identifiers.org/clinvar/255825 ^@ NM_000321.2(RB1):c.500+23T>G http://identifiers.org/clinvar/261614 ^@ NM_022489.3(INF2):c.3069C>T (p.Pro1023=) http://identifiers.org/clinvar/261014 ^@ NM_018139.2(DNAAF2):c.1626G>C (p.Arg542=) http://identifiers.org/clinvar/257114 ^@ NM_001024858.2(SPTB):c.4208G>A (p.Arg1403Gln) http://identifiers.org/clinvar/255375 ^@ NM_000153.3(GALC):c.329-35G>A http://identifiers.org/clinvar/255725 ^@ NM_000275.2(OCA2):c.1887G>T (p.Val629=) http://identifiers.org/clinvar/255875 ^@ NM_000338.2(SLC12A1):c.993G>A (p.Leu331=) http://identifiers.org/clinvar/333709 ^@ NM_001204.6(BMPR2):c.*5246C>T http://identifiers.org/clinvar/333759 ^@ NM_012092.3(ICOS):c.*1407G>A http://identifiers.org/clinvar/333809 ^@ NM_014929.3(FASTKD2):c.2074A>G (p.Lys692Glu) http://identifiers.org/clinvar/333909 ^@ NM_015040.3(PIKFYVE):c.2984A>T (p.Gln995Leu) http://identifiers.org/clinvar/336907 ^@ NM_001004311.3(FIGLA):c.552C>T (p.His184=) http://identifiers.org/clinvar/334110 ^@ NM_000384.2(APOB):c.9746C>T (p.Pro3249Leu) http://identifiers.org/clinvar/334160 ^@ NM_000384.2(APOB):c.3034G>A (p.Glu1012Lys) http://identifiers.org/clinvar/337507 ^@ NM_017849.3(TMEM127):c.182G>C (p.Cys61Ser) http://identifiers.org/clinvar/334010 ^@ NM_001875.4(CPS1):c.186C>T (p.Gly62=) http://identifiers.org/clinvar/334211 ^@ NM_173076.2(ABCA12):c.*552G>A http://identifiers.org/clinvar/334261 ^@ NM_173076.2(ABCA12):c.1743C>G (p.Asp581Glu) http://identifiers.org/clinvar/337007 ^@ NM_015120.4(ALMS1):c.103_105dupGCG (p.Ala36_Asn37insAla) http://identifiers.org/clinvar/334611 ^@ NM_003590.4(CUL3):c.*1518A>T http://identifiers.org/clinvar/334461 ^@ NM_015311.2(OBSL1):c.5400A>T (p.Leu1800=) http://identifiers.org/clinvar/342487 ^@ NM_000551.3(VHL):c.*2782C>G http://identifiers.org/clinvar/334511 ^@ NM_015311.2(OBSL1):c.2077G>T (p.Ala693Ser) http://identifiers.org/clinvar/342537 ^@ NM_198196.2(CD96):c.1229-1G>A http://identifiers.org/clinvar/337157 ^@ NM_003849.3(SUCLG1):c.345T>C (p.Ala115=) http://identifiers.org/clinvar/337207 ^@ NM_000821.6(GGCX):c.*3053A>G http://identifiers.org/clinvar/342587 ^@ NM_198196.2(CD96):c.*2092_*2093insGAAAGAA http://identifiers.org/clinvar/334911 ^@ NM_004509.3(SP110):c.617C>T (p.Ala206Val) http://identifiers.org/clinvar/334661 ^@ NM_000092.4(COL4A4):c.*3410_*3411delTT http://identifiers.org/clinvar/342737 ^@ NM_000187.3(HGD):c.1191A>C (p.Ala397=) http://identifiers.org/clinvar/335011 ^@ NM_005199.4(CHRNG):c.1213C>T (p.Arg405Trp) http://identifiers.org/clinvar/337457 ^@ NM_017849.3(TMEM127):c.*2717C>G http://identifiers.org/clinvar/337557 ^@ NM_014014.4(SNRNP200):c.1498C>T (p.Leu500=) http://identifiers.org/clinvar/334811 ^@ NM_000091.4(COL4A3):c.*1663G>C http://identifiers.org/clinvar/342287 ^@ NM_016247.3(IMPG2):c.*2885C>A http://identifiers.org/clinvar/334961 ^@ NM_152383.4(DIS3L2):c.*551_*554dupATTA http://identifiers.org/clinvar/350566 ^@ NM_001182.4(ALDH7A1):c.*999_*1000dupAA http://identifiers.org/clinvar/350716 ^@ NM_032446.2(MEGF10):c.*3566G>T http://identifiers.org/clinvar/350816 ^@ NM_003060.3(SLC22A5):c.1120G>A (p.Val374Met) http://identifiers.org/clinvar/357792 ^@ NM_001851.4(COL9A1):c.*247dupA http://identifiers.org/clinvar/357892 ^@ NM_014989.5(RIMS1):c.*2049T>A http://identifiers.org/clinvar/357942 ^@ NM_004415.3(DSP):c.2247A>G (p.Leu749=) http://identifiers.org/clinvar/351066 ^@ NM_001369.2(DNAH5):c.6956C>T (p.Thr2319Met) http://identifiers.org/clinvar/351216 ^@ NM_001369.2(DNAH5):c.967C>T (p.Leu323=) http://identifiers.org/clinvar/358492 ^@ NM_000441.1(SLC26A4):c.-139C>T http://identifiers.org/clinvar/351366 ^@ NM_001018077.1(NR3C1):c.2182-9C>G http://identifiers.org/clinvar/351416 ^@ NM_054027.4(ANKH):c.*4250T>C http://identifiers.org/clinvar/351266 ^@ NM_005219.4(DIAPH1):c.*1337C>T http://identifiers.org/clinvar/351316 ^@ NM_001018077.1(NR3C1):c.*3550G>A http://identifiers.org/clinvar/358792 ^@ NM_006193.2(PAX4):c.*190C>T http://identifiers.org/clinvar/358892 ^@ NM_018718.2(CEP41):c.*4417G>A http://identifiers.org/clinvar/358942 ^@ NM_018718.2(CEP41):c.616C>G (p.Pro206Ala) http://identifiers.org/clinvar/359292 ^@ NM_004456.4(EZH2):c.-58_-56dupGCG http://identifiers.org/clinvar/359342 ^@ NM_016203.3(PRKAG2):c.*112A>G http://identifiers.org/clinvar/352203 ^@ NM_001135243.1(TCOF1):c.1229C>T (p.Ser410Leu) http://identifiers.org/clinvar/356353 ^@ NM_006929.4(SKIV2L):c.3666G>A (p.Leu1222=) http://identifiers.org/clinvar/352353 ^@ NM_000337.5(SGCD):c.*1527C>T http://identifiers.org/clinvar/356703 ^@ NM_002098.5(GUCA1B):c.*1126A>G http://identifiers.org/clinvar/356903 ^@ NM_006502.2(POLH):c.887C>T (p.Ser296Phe) http://identifiers.org/clinvar/352603 ^@ NM_000806.5(GABRA1):c.*304delA http://identifiers.org/clinvar/360381 ^@ NM_014855.2(AP5Z1):c.*1441C>T http://identifiers.org/clinvar/353003 ^@ NM_000505.3(F12):c.348C>A (p.Gly116=) http://identifiers.org/clinvar/360631 ^@ NM_153033.4(KCTD7):c.*3961C>T http://identifiers.org/clinvar/352853 ^@ NM_002449.4(MSX2):c.*647C>T http://identifiers.org/clinvar/360731 ^@ NM_000941.2(POR):c.*306G>A http://identifiers.org/clinvar/360831 ^@ NM_005751.4(AKAP9):c.5722A>G (p.Arg1908Gly) http://identifiers.org/clinvar/360931 ^@ NM_000466.2(PEX1):c.578A>G (p.Asp193Gly) http://identifiers.org/clinvar/361031 ^@ NM_014251.2(SLC25A13):c.-115G>T http://identifiers.org/clinvar/353403 ^@ NM_023073.3(C5orf42):c.*807A>G http://identifiers.org/clinvar/353553 ^@ NM_002310.5(LIFR):c.*4264T>G http://identifiers.org/clinvar/361331 ^@ NM_178857.5(RP1L1):c.2850C>T (p.Arg950=) http://identifiers.org/clinvar/358092 ^@ NM_181714.3(LCA5):c.1533C>A (p.Phe511Leu) http://identifiers.org/clinvar/363880 ^@ NM_019098.4(CNGB3):c.624C>T (p.Asn208=) http://identifiers.org/clinvar/363930 ^@ NM_153704.5(TMEM67):c.*179T>C http://identifiers.org/clinvar/299933 ^@ NM_020975.4(RET):c.*1489G>A http://identifiers.org/clinvar/299983 ^@ NM_002900.2(RBP3):c.1384C>T (p.Arg462Cys) http://identifiers.org/clinvar/361081 ^@ NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) http://identifiers.org/clinvar/364230 ^@ NM_014425.4(INVS):c.2335C>T (p.Arg779Trp) http://identifiers.org/clinvar/300133 ^@ NM_000242.2(MBL2):c.*1136A>G http://identifiers.org/clinvar/363980 ^@ NM_177965.3(C8orf37):c.*2549C>A http://identifiers.org/clinvar/300183 ^@ NM_033056.3(PCDH15):c.3195A>G (p.Gln1065=) http://identifiers.org/clinvar/364919 ^@ NM_002316.3(LMX1B):c.*1255A>G http://identifiers.org/clinvar/300972 ^@ NM_002247.3(KCNMA1):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/365069 ^@ NM_003165.3(STXBP1):c.*1516T>C http://identifiers.org/clinvar/308176 ^@ NM_000719.6(CACNA1C):c.*769A>T http://identifiers.org/clinvar/365269 ^@ NM_007171.3(POMT1):c.-196G>T http://identifiers.org/clinvar/365019 ^@ NM_138361.5(LRSAM1):c.804C>T (p.Leu268=) http://identifiers.org/clinvar/308376 ^@ NM_139241.3(FGD4):c.*5177G>A http://identifiers.org/clinvar/308426 ^@ NM_012062.4(DNM1L):c.*1471_*1475dupTACTT http://identifiers.org/clinvar/308476 ^@ NM_004572.3(PKP2):c.*1159A>T http://identifiers.org/clinvar/301322 ^@ NM_001012720.1(RGR):c.866G>A (p.Arg289Gln) http://identifiers.org/clinvar/365119 ^@ NM_003863.3(DPM2):c.-211T>G http://identifiers.org/clinvar/301472 ^@ NM_000314.6(PTEN):c.*1702G>A http://identifiers.org/clinvar/308826 ^@ NM_001017535.1(VDR):c.*2226C>T http://identifiers.org/clinvar/301572 ^@ NM_000235.3(LIPA):c.1026G>A (p.Gly342=) http://identifiers.org/clinvar/365469 ^@ NM_000368.4(TSC1):c.*1785A>G http://identifiers.org/clinvar/365869 ^@ NM_019892.5(INPP5E):c.*763G>C http://identifiers.org/clinvar/365920 ^@ NM_006412.3(AGPAT2):c.720C>T (p.Asp240=) http://identifiers.org/clinvar/365569 ^@ NM_014694.3(ADAMTSL2):c.-212dupC http://identifiers.org/clinvar/365970 ^@ NM_016219.4(MAN1B1):c.1761C>G (p.Val587=) http://identifiers.org/clinvar/309376 ^@ NM_014191.3(SCN8A):c.*628G>A http://identifiers.org/clinvar/309426 ^@ NM_014191.3(SCN8A):c.*4412G>A http://identifiers.org/clinvar/365719 ^@ NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) http://identifiers.org/clinvar/366070 ^@ NM_144966.5(FREM1):c.*1772C>T http://identifiers.org/clinvar/365769 ^@ NM_000093.4(COL5A1):c.*1125A>T http://identifiers.org/clinvar/365819 ^@ NM_014564.4(LHX3):c.752A>G (p.Gln251Arg) http://identifiers.org/clinvar/366120 ^@ NM_144966.5(FREM1):c.4552G>T (p.Ala1518Ser) http://identifiers.org/clinvar/302522 ^@ NM_001680.4(FXYD2):c.195G>A (p.Glu65=) http://identifiers.org/clinvar/366170 ^@ NM_144966.5(FREM1):c.533C>T (p.Ala178Val) http://identifiers.org/clinvar/310365 ^@ NM_000365.5(TPI1):c.631+13G>A http://identifiers.org/clinvar/366220 ^@ NM_003070.4(SMARCA2):c.3438C>T (p.Ser1146=) http://identifiers.org/clinvar/310415 ^@ NM_001131025.1(PEX5):c.-193T>A http://identifiers.org/clinvar/302622 ^@ NM_174934.3(SCN4B):c.*989dupC http://identifiers.org/clinvar/310515 ^@ NM_002469.2(MYF6):c.*346A>G http://identifiers.org/clinvar/340497 ^@ NM_006031.5(PCNT):c.4953C>T (p.Arg1651=) http://identifiers.org/clinvar/340798 ^@ NM_017929.5(PEX26):c.*1720G>A http://identifiers.org/clinvar/322294 ^@ NM_000430.3(PAFAH1B1):c.*1906A>G http://identifiers.org/clinvar/322344 ^@ NM_080669.5(SLC46A1):c.*4320A>G http://identifiers.org/clinvar/313259 ^@ NM_002408.3(MGAT2):c.*286_*289delTAAT http://identifiers.org/clinvar/341537 ^@ NM_002473.5(MYH9):c.132C>T (p.Ala44=) http://identifiers.org/clinvar/313459 ^@ NM_005982.3(SIX1):c.*334C>G http://identifiers.org/clinvar/315348 ^@ NM_144599.4(NIPA1):c.*4690C>A http://identifiers.org/clinvar/313559 ^@ NM_182914.2(SYNE2):c.11549A>G (p.Asp3850Gly) http://identifiers.org/clinvar/341887 ^@ NM_000262.2(NAGA):c.*1789delT http://identifiers.org/clinvar/315498 ^@ NM_002420.5(TRPM1):c.4123G>T (p.Glu1375Ter) http://identifiers.org/clinvar/341937 ^@ NM_025225.2(PNPLA3):c.972C>T (p.Leu324=) http://identifiers.org/clinvar/315598 ^@ NM_133647.1(SLC12A6):c.*824T>C http://identifiers.org/clinvar/342037 ^@ NM_024105.3(ALG12):c.*209C>T http://identifiers.org/clinvar/342087 ^@ NM_015166.3(MLC1):c.*991T>G http://identifiers.org/clinvar/342137 ^@ NM_001169109.1(SCO2):c.-14+121C>T http://identifiers.org/clinvar/313859 ^@ NM_015346.3(ZFYVE26):c.*786T>G http://identifiers.org/clinvar/315698 ^@ NM_005159.4(ACTC1):c.*247G>A http://identifiers.org/clinvar/323483 ^@ NM_000342.3(SLC4A1):c.*1273delG http://identifiers.org/clinvar/315748 ^@ NM_152594.2(SPRED1):c.*810A>G http://identifiers.org/clinvar/313959 ^@ NM_000021.3(PSEN1):c.*768A>G http://identifiers.org/clinvar/315848 ^@ NM_144508.4(KNL1):c.1636A>G (p.Arg546Gly) http://identifiers.org/clinvar/315948 ^@ NM_138477.2(CDAN1):c.1495_1500dupAGCCAC (p.His500_Phe501insSerHis) http://identifiers.org/clinvar/324139 ^@ NM_053013.3(ENO3):c.363G>A (p.Ala121=) http://identifiers.org/clinvar/324033 ^@ NM_005220.2(DLX3):c.-135C>T http://identifiers.org/clinvar/368748 ^@ NM_021998.4(ZNF711):c.*47A>G http://identifiers.org/clinvar/314948 ^@ NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) http://identifiers.org/clinvar/315398 ^@ NM_144599.4(NIPA1):c.*1724C>G http://identifiers.org/clinvar/315648 ^@ NM_005159.4(ACTC1):c.*1987G>A http://identifiers.org/clinvar/315148 ^@ NM_139057.3(ADAMTS17):c.*2352C>G http://identifiers.org/clinvar/317688 ^@ NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) http://identifiers.org/clinvar/315998 ^@ NM_173500.3(TTBK2):c.595C>T (p.Arg199Trp) http://identifiers.org/clinvar/316048 ^@ NM_201631.3(TGM5):c.1106-7C>T http://identifiers.org/clinvar/316148 ^@ NM_014080.4(DUOX2):c.3531G>T (p.Gln1177His) http://identifiers.org/clinvar/318038 ^@ NM_001143979.1(NDE1):c.-132C>T http://identifiers.org/clinvar/318190 ^@ NM_014714.3(IFT140):c.1646C>T (p.Ser549Phe) http://identifiers.org/clinvar/325882 ^@ NM_001139.2(ALOX12B):c.1179C>T (p.His393=) http://identifiers.org/clinvar/372053 ^@ NM_005732.3(RAD50):c.1246-8G>T http://identifiers.org/clinvar/371903 ^@ NM_001256849.1(POLD1):c.1242+18G>A http://identifiers.org/clinvar/372003 ^@ NM_001256849.1(POLD1):c.2717+14C>T http://identifiers.org/clinvar/371953 ^@ NM_001256849.1(POLD1):c.2717+15G>T http://identifiers.org/clinvar/372103 ^@ NM_006412.3(AGPAT2):c.182+1G>A http://identifiers.org/clinvar/372165 ^@ P4HA2, GLU291LYS http://identifiers.org/clinvar/372232 ^@ NM_207421.4(PADI6):c.1618G>A (p.Gly540Arg) http://identifiers.org/clinvar/372286 ^@ NM_173685.2(NSMCE2):c.697_700dupAGGG (p.Ala234Glufs) http://identifiers.org/clinvar/372339 ^@ NM_000094.3(COL7A1):c.5344G>A (p.Gly1782Arg) http://identifiers.org/clinvar/373259 ^@ NM_004415.3(DSP):c.1351C>T (p.Arg451Cys) http://identifiers.org/clinvar/372703 ^@ NM_002834.4(PTPN11):c.180_181delTGinsAA (p.Asp61Asn) http://identifiers.org/clinvar/372440 ^@ NM_000280.4(PAX6):c.141+2T>G http://identifiers.org/clinvar/372389 ^@ NM_002225.3(IVD):c.559+1G>A http://identifiers.org/clinvar/372549 ^@ NM_016373.3(WWOX):c.718G>T (p.Val240Phe) http://identifiers.org/clinvar/372753 ^@ NM_000088.3(COL1A1):c.3150_3158delTCCTGGTGC (p.Ala1053_Gly1055del) http://identifiers.org/clinvar/372803 ^@ NM_005912.2(MC4R):c.811T>C (p.Cys271Arg) http://identifiers.org/clinvar/372599 ^@ NM_000383.3(AIRE):c.26G>C (p.Arg9Pro) http://identifiers.org/clinvar/372650 ^@ NM_004992.3(MECP2):c.20G>A (p.Gly7Glu) http://identifiers.org/clinvar/372496 ^@ NM_000330.3(RS1):c.208G>A (p.Gly70Ser) http://identifiers.org/clinvar/374255 ^@ NM_000384.2(APOB):c.2988_2994delCGGGGAC (p.Gly997Profs) http://identifiers.org/clinvar/374325 ^@ NM_000168.5(GLI3):c.2252delA (p.Asp751Alafs) http://identifiers.org/clinvar/374390 ^@ NM_172107.3(KCNQ2):c.2296delC (p.Leu766Cysfs) http://identifiers.org/clinvar/374443 ^@ NM_000435.2(NOTCH3):c.924C>T (p.Gly308=) http://identifiers.org/clinvar/374493 ^@ NM_139242.3(MTFMT):c.16C>T (p.Arg6Trp) http://identifiers.org/clinvar/374543 ^@ NM_052845.3(MMAB):c.582A>T (p.Arg194Ser) http://identifiers.org/clinvar/374593 ^@ NM_206933.2(USH2A):c.2416A>G (p.Thr806Ala) http://identifiers.org/clinvar/374643 ^@ NM_181661.2(VPS13B):c.1002T>G (p.Tyr334Ter) http://identifiers.org/clinvar/374693 ^@ NM_206933.2(USH2A):c.13004C>A (p.Ala4335Asp) http://identifiers.org/clinvar/374743 ^@ NM_000217.2(KCNA1):c.1054G>C (p.Ala352Pro) http://identifiers.org/clinvar/374803 ^@ NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro) http://identifiers.org/clinvar/374853 ^@ NM_007198.3(PLPBP):c.524T>C (p.Leu175Pro) http://identifiers.org/clinvar/374910 ^@ NM_020738.3(KIDINS220):c.4520dupT (p.Leu1507Phefs) http://identifiers.org/clinvar/374970 ^@ NM_006231.3(POLE):c.4006-1G>T http://identifiers.org/clinvar/375301 ^@ NM_176824.2(BBS7):c.1891-2A>C http://identifiers.org/clinvar/375356 ^@ NM_000520.5(HEXA):c.788C>T (p.Thr263Ile) http://identifiers.org/clinvar/375407 ^@ NM_000784.3(CYP27A1):c.847A>T (p.Lys283Ter) http://identifiers.org/clinvar/375467 ^@ NM_000265.5(NCF1):c.*154+25G>A http://identifiers.org/clinvar/375530 ^@ NM_021072.3(HCN1):c.459G>C (p.Met153Ile) http://identifiers.org/clinvar/375647 ^@ NM_006150.4(PRICKLE3):c.609C>A (p.Ser203Arg) http://identifiers.org/clinvar/375737 ^@ NM_031267.3(CDK13):c.2149G>A (p.Gly717Arg) http://identifiers.org/clinvar/375842 ^@ NM_174936.3(PCSK9):c.266C>T (p.Ser89Leu) http://identifiers.org/clinvar/375792 ^@ NM_000527.4(LDLR):c.674_683delAATCTGACGA (p.Lys225Argfs) http://identifiers.org/clinvar/375895 ^@ NM_001904.3(CTNNB1):c.134C>A (p.Ser45Tyr) http://identifiers.org/clinvar/382807 ^@ NM_001256850.1(TTN):c.10360+1350G>T http://identifiers.org/clinvar/383157 ^@ NM_000179.2(MSH6):c.303G>A (p.Glu101=) http://identifiers.org/clinvar/379551 ^@ NM_000179.2(MSH6):c.260+7G>A http://identifiers.org/clinvar/377752 ^@ NM_001875.4(CPS1):c.2391+18T>G http://identifiers.org/clinvar/382957 ^@ NM_032601.3(MCEE):c.-15G>T http://identifiers.org/clinvar/387349 ^@ NM_015120.4(ALMS1):c.9785-9C>T http://identifiers.org/clinvar/389388 ^@ NM_015120.4(ALMS1):c.10212T>A (p.Thr3404=) http://identifiers.org/clinvar/387199 ^@ NM_004637.5(RAB7A):c.213G>A (p.Gln71=) http://identifiers.org/clinvar/387149 ^@ NM_000532.4(PCCB):c.1299+9C>A http://identifiers.org/clinvar/391827 ^@ NM_182943.2(PLOD2):c.1127+2T>C http://identifiers.org/clinvar/387749 ^@ NM_001457.3(FLNB):c.1781T>C (p.Ile594Thr) http://identifiers.org/clinvar/382607 ^@ NM_000925.3(PDHB):c.-5C>G http://identifiers.org/clinvar/387449 ^@ NM_178862.2(STT3B):c.1398A>G (p.Pro466=) http://identifiers.org/clinvar/383308 ^@ NM_000232.4(SGCB):c.-19C>G http://identifiers.org/clinvar/383458 ^@ NM_005051.2(QARS):c.1957-19C>G http://identifiers.org/clinvar/382907 ^@ NM_001182.4(ALDH7A1):c.1094-4C>T http://identifiers.org/clinvar/391627 ^@ NM_001148.4(ANK2):c.11610+5G>A http://identifiers.org/clinvar/377902 ^@ NM_000806.5(GABRA1):c.78T>C (p.Tyr26=) http://identifiers.org/clinvar/383358 ^@ NM_033071.3(SYNE1):c.19855-20G>A http://identifiers.org/clinvar/380052 ^@ NM_002887.3(RARS):c.729C>A (p.Thr243=) http://identifiers.org/clinvar/387799 ^@ NM_018341.2(ERMARD):c.1899C>T (p.Tyr633=) http://identifiers.org/clinvar/378304 ^@ NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) http://identifiers.org/clinvar/387049 ^@ NM_002290.4(LAMA4):c.5379A>G (p.Gly1793=) http://identifiers.org/clinvar/389638 ^@ NM_002454.2(MTRR):c.177C>G (p.Thr59=) http://identifiers.org/clinvar/392427 ^@ NM_002397.4(MEF2C):c.834+16G>A http://identifiers.org/clinvar/388588 ^@ NM_033071.3(SYNE1):c.22050C>T (p.Pro7350=) http://identifiers.org/clinvar/377702 ^@ NM_014141.5(CNTNAP2):c.402+13C>A http://identifiers.org/clinvar/387849 ^@ NM_004415.3(DSP):c.3865C>T (p.Gln1289Ter) http://identifiers.org/clinvar/377952 ^@ NM_000238.3(KCNH2):c.817C>A (p.Arg273=) http://identifiers.org/clinvar/380152 ^@ NM_001167734.1(VARS2):c.1362C>T (p.Ser454=) http://identifiers.org/clinvar/386049 ^@ NM_018238.3(AGK):c.976-20A>G http://identifiers.org/clinvar/391477 ^@ NM_000038.5(APC):c.3654G>A (p.Thr1218=) http://identifiers.org/clinvar/383107 ^@ NM_001204824.1(KCNQ3):c.1278G>A (p.Val426=) http://identifiers.org/clinvar/379451 ^@ NM_000238.3(KCNH2):c.308-2A>G http://identifiers.org/clinvar/389538 ^@ NM_016203.3(PRKAG2):c.660G>A (p.Pro220=) http://identifiers.org/clinvar/391727 ^@ NM_001999.3(FBN2):c.7961-19T>A http://identifiers.org/clinvar/379701 ^@ NM_001369.2(DNAH5):c.6688-1G>T http://identifiers.org/clinvar/391777 ^@ NM_000445.4(PLEC):c.11117C>T (p.Ala3706Val) http://identifiers.org/clinvar/386899 ^@ NM_022455.4(NSD1):c.6464-20A>G http://identifiers.org/clinvar/382707 ^@ NM_000535.6(PMS2):c.1245G>A (p.Val415=) http://identifiers.org/clinvar/389488 ^@ NM_001130438.2(SPTAN1):c.4083G>A (p.Leu1361=) http://identifiers.org/clinvar/387599 ^@ NM_003923.2(FOXH1):c.1033G>A (p.Val345Ile) http://identifiers.org/clinvar/389788 ^@ NM_014908.3(DOLK):c.495C>A (p.Ile165=) http://identifiers.org/clinvar/380102 ^@ NM_013391.3(DMGDH):c.1097A>G (p.Asn366Ser) http://identifiers.org/clinvar/391277 ^@ NM_000089.3(COL1A2):c.2853T>C (p.Pro951=) http://identifiers.org/clinvar/392527 ^@ NM_000093.4(COL5A1):c.4287G>C (p.Gly1429=) http://identifiers.org/clinvar/386849 ^@ NM_000136.2(FANCC):c.-84C>T http://identifiers.org/clinvar/386749 ^@ NM_007171.3(POMT1):c.1392G>A (p.Glu464=) http://identifiers.org/clinvar/133191 ^@ NM_000540.2(RYR1):c.7260C>T (p.His2420=) http://identifiers.org/clinvar/133684 ^@ NM_001123383.1(BCOR):c.2509C>G (p.Pro837Ala) http://identifiers.org/clinvar/133735 ^@ NM_000059.3(BRCA2):c.2515T>C (p.Tyr839His) http://identifiers.org/clinvar/133788 ^@ NM_032415.5(CARD11):c.1610G>C (p.Ser537Thr) http://identifiers.org/clinvar/133838 ^@ NM_001039933.2(CD79B):c.221A>C (p.Asn74Thr) http://identifiers.org/clinvar/133888 ^@ NM_007194.3(CHEK2):c.157T>A (p.Ser53Thr) http://identifiers.org/clinvar/133938 ^@ NM_004380.2(CREBBP):c.6956A>T (p.His2319Leu) http://identifiers.org/clinvar/133988 ^@ NM_001077706.2(ECT2L):c.1510A>G (p.Ile504Val) http://identifiers.org/clinvar/134038 ^@ NM_001429.3(EP300):c.2627A>T (p.Gln876Leu) http://identifiers.org/clinvar/134090 ^@ NM_001005862.2(ERBB2):c.338G>A (p.Arg113Gln) http://identifiers.org/clinvar/134140 ^@ NM_005236.2(ERCC4):c.2608G>A (p.Val870Ile) http://identifiers.org/clinvar/134190 ^@ NM_000123.3(ERCC5):c.1711C>T (p.Pro571Ser) http://identifiers.org/clinvar/134240 ^@ NM_000135.2(FANCA):c.932T>C (p.Ile311Thr) http://identifiers.org/clinvar/134291 ^@ NM_000135.2(FANCA):c.754_755delGAinsAG (p.Asp252Ser) http://identifiers.org/clinvar/134341 ^@ NM_021922.2(FANCE):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/134392 ^@ NM_000141.4(FGFR2):c.557T>C (p.Met186Thr) http://identifiers.org/clinvar/134442 ^@ NM_004119.2(FLT3):c.2971G>A (p.Glu991Lys) http://identifiers.org/clinvar/134492 ^@ NM_001077490.2(GNAS):c.801A>G (p.Gln267=) http://identifiers.org/clinvar/134542 ^@ NM_002227.3(JAK1):c.1951G>A (p.Val651Met) http://identifiers.org/clinvar/134592 ^@ NM_004187.3(KDM5C):c.4597A>C (p.Thr1533Pro) http://identifiers.org/clinvar/134643 ^@ NM_001127500.2(MET):c.2716C>T (p.His906Tyr) http://identifiers.org/clinvar/134694 ^@ NM_003482.3(KMT2D):c.6505G>A (p.Ala2169Thr) http://identifiers.org/clinvar/134745 ^@ NM_170606.2(KMT2C):c.3275G>A (p.Arg1092Gln) http://identifiers.org/clinvar/134795 ^@ NM_170606.2(KMT2C):c.9989C>G (p.Pro3330Arg) http://identifiers.org/clinvar/134846 ^@ NM_000251.2(MSH2):c.220A>C (p.Asn74His) http://identifiers.org/clinvar/134899 ^@ NM_006164.4(NFE2L2):c.293G>T (p.Gly98Val) http://identifiers.org/clinvar/134949 ^@ NM_017617.4(NOTCH1):c.6454G>C (p.Gly2152Arg) http://identifiers.org/clinvar/134999 ^@ NM_016734.2(PAX5):c.244G>A (p.Val82Ile) http://identifiers.org/clinvar/135100 ^@ NM_000264.3(PTCH1):c.3583A>T (p.Thr1195Ser) http://identifiers.org/clinvar/136232 ^@ NM_020745.3(AARS2):c.1753-13T>C http://identifiers.org/clinvar/187225 ^@ NM_002878.3(RAD51D):c.715C>T (p.Arg239Trp) http://identifiers.org/clinvar/187475 ^@ NM_002878.3(RAD51D):c.204C>T (p.Gly68=) http://identifiers.org/clinvar/186925 ^@ NM_007294.3(BRCA1):c.3807C>G (p.Asp1269Glu) http://identifiers.org/clinvar/186373 ^@ NM_007294.3(BRCA1):c.2987A>G (p.Lys996Arg) http://identifiers.org/clinvar/185284 ^@ NM_007294.3(BRCA1):c.2440C>T (p.Leu814=) http://identifiers.org/clinvar/186825 ^@ NM_058216.2(RAD51C):c.87T>C (p.Ser29=) http://identifiers.org/clinvar/184434 ^@ NM_058216.2(RAD51C):c.1089G>A (p.Leu363=) http://identifiers.org/clinvar/186323 ^@ NM_032043.2(BRIP1):c.184G>T (p.Ala62Ser) http://identifiers.org/clinvar/187075 ^@ NM_000546.5(TP53):c.42G>C (p.Leu14=) http://identifiers.org/clinvar/185384 ^@ NM_000455.4(STK11):c.582C>A (p.Asp194Glu) http://identifiers.org/clinvar/184784 ^@ NM_007194.3(CHEK2):c.990G>A (p.Gln330=) http://identifiers.org/clinvar/187779 ^@ SMARCAD1, IVS1, A-T, +3 http://identifiers.org/clinvar/187851 ^@ NM_173167.3(UNC45B):c.2413C>T (p.Arg805Trp) http://identifiers.org/clinvar/187908 ^@ NM_004409.4(DMPK):c.*224_*226[103] http://identifiers.org/clinvar/187958 ^@ NM_004409.4(DMPK):c.*224_*226[327] http://identifiers.org/clinvar/188008 ^@ NM_004409.4(DMPK):c.*224_*226[586] http://identifiers.org/clinvar/188109 ^@ NM_000251.2(MSH2):c.2393A>G (p.Asn798Ser) http://identifiers.org/clinvar/188058 ^@ NM_024675.3(PALB2):c.2597G>T (p.Gly866Val) http://identifiers.org/clinvar/189019 ^@ NM_000016.5(ACADM):c.977T>C (p.Met326Thr) http://identifiers.org/clinvar/188918 ^@ NM_000288.3(PEX7):c.74C>T (p.Ser25Phe) http://identifiers.org/clinvar/188968 ^@ NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) http://identifiers.org/clinvar/189069 ^@ NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) http://identifiers.org/clinvar/188867 ^@ NM_014363.5(SACS):c.12232C>T (p.Arg4078Ter) http://identifiers.org/clinvar/189119 ^@ NM_000053.3(ATP7B):c.1285+2T>A http://identifiers.org/clinvar/188817 ^@ NM_000153.3(GALC):c.388G>A (p.Glu130Lys) http://identifiers.org/clinvar/189169 ^@ NM_015166.3(MLC1):c.324delT (p.Asn110Thrfs) http://identifiers.org/clinvar/189235 ^@ NM_002310.5(LIFR):c.2074C>T (p.Arg692Ter) http://identifiers.org/clinvar/189287 ^@ NM_014795.3(ZEB2):c.1653delC (p.Ser552Valfs) http://identifiers.org/clinvar/189347 ^@ NM_030753.4(WNT3):c.271T>C (p.Cys91Arg) http://identifiers.org/clinvar/189437 ^@ NM_000314.6(PTEN):c.-868_-846dup23 http://identifiers.org/clinvar/189499 ^@ NM_000314.6(PTEN):c.-794C>G http://identifiers.org/clinvar/189609 ^@ NM_005249.4(FOXG1):c.1248C>G (p.Tyr416Ter) http://identifiers.org/clinvar/189759 ^@ NM_004992.3(MECP2):c.(?_-226)_-99+?del http://identifiers.org/clinvar/189559 ^@ NM_003159.2(CDKL5):c.146-?_*85del http://identifiers.org/clinvar/189659 ^@ NM_004992.3(MECP2):c.1142_1227del86 (p.Pro381Glnfs) http://identifiers.org/clinvar/189709 ^@ NM_001110792.1(MECP2):c.445_1194del750 (p.Glu149_Leu398del) http://identifiers.org/clinvar/189893 ^@ NM_001165963.1(SCN1A):c.5780G>C (p.Arg1927Thr) http://identifiers.org/clinvar/189943 ^@ NM_001165963.1(SCN1A):c.5404G>T (p.Glu1802Ter) http://identifiers.org/clinvar/189843 ^@ NM_001165963.1(SCN1A):c.4351C>A (p.Pro1451Thr) http://identifiers.org/clinvar/189993 ^@ NM_001165963.1(SCN1A):c.965-1G>A http://identifiers.org/clinvar/190109 ^@ NM_173354.4(SIK1):c.1906G>A (p.Gly636Ser) http://identifiers.org/clinvar/190178 ^@ NM_001110556.1(FLNA):c.1430-1G>T http://identifiers.org/clinvar/190229 ^@ NM_002485.4(NBN):c.1030C>T (p.Gln344Ter) http://identifiers.org/clinvar/190310 ^@ DNM1, 130982480C-T http://identifiers.org/clinvar/190362 ^@ NM_002055.4(GFAP):c.1154C>G (p.Ser385Cys) http://identifiers.org/clinvar/227002 ^@ NM_001142771.1(PCDH15):c.4554_4556dupAAC (p.Thr1519_Gly1520insThr) http://identifiers.org/clinvar/228795 ^@ NM_007078.2(LDB3):c.1697T>G (p.Met566Arg) http://identifiers.org/clinvar/226902 ^@ NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) http://identifiers.org/clinvar/226952 ^@ NM_173591.3(OTOGL):c.5067T>C (p.Asn1689=) http://identifiers.org/clinvar/226452 ^@ NM_001089.2(ABCA3):c.2514-8C>T http://identifiers.org/clinvar/226852 ^@ NM_001042492.2(NF1):c.7190-11_7190-8delGTTT http://identifiers.org/clinvar/226802 ^@ NM_003803.3(MYOM1):c.1455G>C (p.Arg485=) http://identifiers.org/clinvar/228845 ^@ NM_001042544.1(LTBP4):c.4642T>C (p.Cys1548Arg) http://identifiers.org/clinvar/226502 ^@ NM_001039213.3(CEACAM16):c.114G>A (p.Thr38=) http://identifiers.org/clinvar/226752 ^@ NM_002473.5(MYH9):c.5181G>A (p.Leu1727=) http://identifiers.org/clinvar/226552 ^@ NM_000395.2(CSF2RB):c.2400G>A (p.Pro800=) http://identifiers.org/clinvar/234802 ^@ NM_018136.4(ASPM):c.2761G>T (p.Ala921Ser) http://identifiers.org/clinvar/234903 ^@ NM_020631.4(PLEKHG5):c.971T>C (p.Ile324Thr) http://identifiers.org/clinvar/234450 ^@ NM_000179.2(MSH6):c.3979A>C (p.Asn1327His) http://identifiers.org/clinvar/230486 ^@ NM_000535.6(PMS2):c.2560G>A (p.Ala854Thr) http://identifiers.org/clinvar/234652 ^@ NM_000535.6(PMS2):c.353+1G>A http://identifiers.org/clinvar/234702 ^@ NM_002485.4(NBN):c.783T>G (p.Asn261Lys) http://identifiers.org/clinvar/234552 ^@ NM_000136.2(FANCC):c.1073-18A>C http://identifiers.org/clinvar/234853 ^@ NM_000314.6(PTEN):c.-674C>A http://identifiers.org/clinvar/234752 ^@ NM_032667.6(BSCL2):c.1117G>C (p.Ala373Pro) http://identifiers.org/clinvar/234501 ^@ NM_000243.2(MEFV):c.1066C>G (p.Gln356Glu) http://identifiers.org/clinvar/234602 ^@ NM_000214.2(JAG1):c.1082_1083delAG (p.Glu361Valfs) http://identifiers.org/clinvar/231875 ^@ NM_001128425.1(MUTYH):c.987G>C (p.Val329=) http://identifiers.org/clinvar/232976 ^@ NM_000465.3(BARD1):c.1373A>T (p.Asp458Val) http://identifiers.org/clinvar/232926 ^@ NM_000465.3(BARD1):c.4_23del20 (p.Pro2Glufs) http://identifiers.org/clinvar/231036 ^@ NM_000251.2(MSH2):c.384C>A (p.Leu128=) http://identifiers.org/clinvar/233176 ^@ NM_000251.2(MSH2):c.1252A>T (p.Ile418Leu) http://identifiers.org/clinvar/230236 ^@ NM_000251.2(MSH2):c.1396C>T (p.His466Tyr) http://identifiers.org/clinvar/232375 ^@ NM_000179.2(MSH6):c.3724C>T (p.Arg1242Cys) http://identifiers.org/clinvar/231925 ^@ NM_000249.3(MLH1):c.977T>A (p.Val326Glu) http://identifiers.org/clinvar/232525 ^@ NM_000038.5(APC):c.1112G>A (p.Gly371Glu) http://identifiers.org/clinvar/263961 ^@ NM_005902.3(SMAD3):c.850G>C (p.Glu284Gln) http://identifiers.org/clinvar/263561 ^@ NM_030777.3(SLC2A10):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/263811 ^@ NM_000071.2(CBS):c.844_845ins68 (p.?) http://identifiers.org/clinvar/263358 ^@ NM_006440.4(TXNRD2):c.1099C>T (p.Leu367=) http://identifiers.org/clinvar/264467 ^@ NM_002294.2(LAMP2):c.300G>C (p.Ala100=) http://identifiers.org/clinvar/264261 ^@ NM_001456.3(FLNA):c.5635A>G (p.Thr1879Ala) http://identifiers.org/clinvar/264937 ^@ NM_000059.3(BRCA2):c.9256+735A>C http://identifiers.org/clinvar/265698 ^@ NM_001854.3(COL11A1):c.1685G>A (p.Gly562Asp) http://identifiers.org/clinvar/265598 ^@ NM_014795.3(ZEB2):c.1038delC (p.Asn346Lysfs) http://identifiers.org/clinvar/265297 ^@ NM_001165963.1(SCN1A):c.661C>G (p.Leu221Val) http://identifiers.org/clinvar/265447 ^@ NM_003242.5(TGFBR2):c.1336G>A (p.Asp446Asn) http://identifiers.org/clinvar/265246 ^@ NM_000249.3(MLH1):c.1997G>A (p.Trp666Ter) http://identifiers.org/clinvar/265497 ^@ NM_022455.4(NSD1):c.5892+1G>T http://identifiers.org/clinvar/265547 ^@ NM_000535.6(PMS2):c.139_146delCTGGATGC (p.Leu47Trpfs) http://identifiers.org/clinvar/265193 ^@ NM_000545.6(HNF1A):c.811C>T (p.Arg271Trp) http://identifiers.org/clinvar/264989 ^@ NM_015665.5(AAAS):c.936-1G>C http://identifiers.org/clinvar/265142 ^@ NM_000138.4(FBN1):c.5413G>A (p.Val1805Ile) http://identifiers.org/clinvar/265347 ^@ NM_000138.4(FBN1):c.3834T>G (p.Cys1278Trp) http://identifiers.org/clinvar/265039 ^@ NM_001139.2(ALOX12B):c.1790C>A (p.Ala597Glu) http://identifiers.org/clinvar/265648 ^@ NM_000214.2(JAG1):c.1509_1510delGA (p.Asn504Terfs) http://identifiers.org/clinvar/265397 ^@ NM_000252.2(MTM1):c.49G>T (p.Glu17Ter) http://identifiers.org/clinvar/265092 ^@ NM_000397.3(CYBB):c.907C>T (p.His303Tyr) http://identifiers.org/clinvar/267289 ^@ NM_001458.4(FLNC):c.318C>G (p.Phe106Leu) http://identifiers.org/clinvar/265787 ^@ NR_033294.1(SNORD118):n.58A>G http://identifiers.org/clinvar/265937 ^@ NM_174936.3(PCSK9):c.996+51A>G http://identifiers.org/clinvar/265887 ^@ NM_000384.2(APOB):c.5599C>T (p.Arg1867Trp) http://identifiers.org/clinvar/265992 ^@ NM_000451.3(SHOX):c.-649C>G http://identifiers.org/clinvar/266047 ^@ NM_012224.2(NEK1):c.1137T>A (p.Asp379Glu) http://identifiers.org/clinvar/266119 ^@ NM_001267550.2(TTN):c.62129dupA (p.Ser20712Leufs) http://identifiers.org/clinvar/267058 ^@ NM_000059.3(BRCA2):c.8195_8202delTAGATCCT (p.Leu2732Serfs) http://identifiers.org/clinvar/267108 ^@ NM_000059.3(BRCA2):c.8800delC (p.Gln2934Lysfs) http://identifiers.org/clinvar/267158 ^@ NM_000059.3(BRCA2):c.9381_9388delGCGACCAG (p.Trp3127Terfs) http://identifiers.org/clinvar/266419 ^@ NM_007294.3(BRCA1):c.3947_3950delTCTT (p.Phe1316Terfs) http://identifiers.org/clinvar/266369 ^@ NM_007294.3(BRCA1):c.3416_3427delGTAGTCATGCATinsC (p.Ser1139Thrfs) http://identifiers.org/clinvar/266319 ^@ NM_007294.3(BRCA1):c.2906delA (p.Asn969Ilefs) http://identifiers.org/clinvar/266269 ^@ NM_007294.3(BRCA1):c.2489_2492delAGTA (p.Lys830Ilefs) http://identifiers.org/clinvar/266219 ^@ NM_007294.3(BRCA1):c.2112_2131dup20 (p.Lys711Metfs) http://identifiers.org/clinvar/266169 ^@ NM_007294.3(BRCA1):c.1497_1509delAAATAAATTAAAG (p.Asn500Valfs) http://identifiers.org/clinvar/266469 ^@ NM_007294.3(BRCA1):c.431dupA (p.Asn144Lysfs) http://identifiers.org/clinvar/267228 ^@ NM_015247.2(CYLD):c.831_834delTGGA (p.Asp277Glufs) http://identifiers.org/clinvar/267375 ^@ c.2851-10T>G http://identifiers.org/clinvar/267429 ^@ NM_017780.3(CHD7):c.3811_3814delGAAA (p.Glu1271Hisfs) http://identifiers.org/clinvar/267515 ^@ NM_007194.3(CHEK2):c.-10dupC http://identifiers.org/clinvar/267665 ^@ NM_000059.3(BRCA2):c.6937+1G>A http://identifiers.org/clinvar/267715 ^@ NM_000059.3(BRCA2):c.9117G>T (p.Pro3039=) http://identifiers.org/clinvar/267565 ^@ NM_007294.3(BRCA1):c.4987-1G>T http://identifiers.org/clinvar/267615 ^@ NM_007294.3(BRCA1):c.671-215_901del http://identifiers.org/clinvar/267794 ^@ NM_006087.3(TUBB4A):c.1181T>G (p.F394C) http://identifiers.org/clinvar/267845 ^@ 46;X;t(X;17)(p11.23;p11.2)dn http://identifiers.org/clinvar/267895 ^@ 46;XYt(2;5)(q22;q22)dn http://identifiers.org/clinvar/267945 ^@ 46;XY;t(1;18)(q32.1;q22.1) http://identifiers.org/clinvar/267995 ^@ 46;XY;inv(11)(p13q25) http://identifiers.org/clinvar/268045 ^@ 46;XX;t(5;7)(q12.2;q21.2)mat http://identifiers.org/clinvar/268111 ^@ NM_024298.4(MBOAT7):c.126_145del20 (p.Leu43Hisfs) http://identifiers.org/clinvar/268174 ^@ NM_005993.4(TBCD):c.1876G>A (p.Ala626Thr) http://identifiers.org/clinvar/279591 ^@ NM_003413.3(ZIC3):c.764G>C (p.Trp255Ser) http://identifiers.org/clinvar/291148 ^@ NM_000137.2(FAH):c.133A>G (p.Ile45Val) http://identifiers.org/clinvar/291199 ^@ NM_000287.3(PEX6):c.2672A>G (p.Lys891Arg) http://identifiers.org/clinvar/291312 ^@ NM_015295.2(SMCHD1):c.1289_1291delATC (p.His430del) http://identifiers.org/clinvar/291706 ^@ NM_013296.4(GPSM2):c.1358A>G (p.Lys453Arg) http://identifiers.org/clinvar/291656 ^@ NM_015074.3(KIF1B):c.*3988G>A http://identifiers.org/clinvar/291606 ^@ NM_015074.3(KIF1B):c.*1133C>T http://identifiers.org/clinvar/292056 ^@ NM_138959.2(VANGL1):c.*2542C>T http://identifiers.org/clinvar/293195 ^@ NM_002857.3(PEX19):c.*2353G>T http://identifiers.org/clinvar/293095 ^@ NM_002241.4(KCNJ10):c.*2016_*2019delGTGT http://identifiers.org/clinvar/293145 ^@ NM_000702.3(ATP1A2):c.*383C>T http://identifiers.org/clinvar/293045 ^@ NM_003126.2(SPTA1):c.853C>A (p.Pro285Thr) http://identifiers.org/clinvar/293245 ^@ NM_000309.3(PPOX):c.-2G>T http://identifiers.org/clinvar/293295 ^@ NM_001643.1(APOA2):c.53-11_53-6delTGTGTG http://identifiers.org/clinvar/345036 ^@ NM_001106.3(ACVR2B):c.*8812C>T http://identifiers.org/clinvar/345286 ^@ NM_182760.3(SUMF1):c.*976A>G http://identifiers.org/clinvar/336957 ^@ NM_003494.3(DYSF):c.1753-10C>T http://identifiers.org/clinvar/337057 ^@ NM_212552.2(BOLA3):c.181G>A (p.Ala61Thr) http://identifiers.org/clinvar/345686 ^@ NM_015175.2(NBEAL2):c.7135-13C>T http://identifiers.org/clinvar/337107 ^@ NM_006302.2(MOGS):c.1805G>A (p.Cys602Tyr) http://identifiers.org/clinvar/345886 ^@ NM_000094.3(COL7A1):c.543G>A (p.Glu181=) http://identifiers.org/clinvar/337257 ^@ NM_000821.6(GGCX):c.2133T>G (p.Pro711=) http://identifiers.org/clinvar/345986 ^@ NM_002292.3(LAMB2):c.3582C>T (p.Phe1194=) http://identifiers.org/clinvar/337307 ^@ NM_198843.2(SFTPB):c.619-15T>C http://identifiers.org/clinvar/346086 ^@ NM_153281.1(HYAL1):c.766G>A (p.Gly256Arg) http://identifiers.org/clinvar/337357 ^@ NM_022912.2(REEP1):c.*2250C>A http://identifiers.org/clinvar/346136 ^@ NM_052859.3(RFT1):c.*3093C>G http://identifiers.org/clinvar/337407 ^@ NM_004836.6(EIF2AK3):c.2092C>A (p.Arg698Ser) http://identifiers.org/clinvar/337607 ^@ NM_020184.3(CNNM4):c.*1244C>T http://identifiers.org/clinvar/345336 ^@ NM_002222.5(ITPR1):c.-81A>G http://identifiers.org/clinvar/345386 ^@ NM_020208.3(SLC6A20):c.*644C>T http://identifiers.org/clinvar/342387 ^@ NM_033084.4(FANCD2):c.*390A>G http://identifiers.org/clinvar/345436 ^@ NM_024513.3(FYCO1):c.*3725A>G http://identifiers.org/clinvar/337657 ^@ NM_001298.2(CNGA3):c.553C>G (p.Leu185Val) http://identifiers.org/clinvar/342337 ^@ NM_016247.3(IMPG2):c.3381C>T (p.Leu1127=) http://identifiers.org/clinvar/345736 ^@ NM_002222.5(ITPR1):c.4191C>G (p.His1397Gln) http://identifiers.org/clinvar/342437 ^@ NM_000551.3(VHL):c.*1465C>A http://identifiers.org/clinvar/345786 ^@ NM_002222.5(ITPR1):c.7776G>A (p.Leu2592=) http://identifiers.org/clinvar/342637 ^@ NM_020754.3(ARHGAP31):c.881+7G>A http://identifiers.org/clinvar/342687 ^@ NM_020754.3(ARHGAP31):c.*737A>G http://identifiers.org/clinvar/345936 ^@ NM_000387.5(SLC25A20):c.*357C>T http://identifiers.org/clinvar/346036 ^@ NM_000481.3(AMT):c.153G>A (p.Ala51=) http://identifiers.org/clinvar/347375 ^@ NM_003619.3(PRSS12):c.*920G>C http://identifiers.org/clinvar/347575 ^@ NM_031296.2(RAB33B):c.*595G>A http://identifiers.org/clinvar/347675 ^@ NM_000901.4(NR3C2):c.*2388T>C http://identifiers.org/clinvar/346436 ^@ NM_198859.3(PRICKLE2):c.*2797A>T http://identifiers.org/clinvar/348025 ^@ NM_001166108.1(PALLD):c.18C>T (p.Ser6=) http://identifiers.org/clinvar/348125 ^@ NM_012224.2(NEK1):c.397-15dupT http://identifiers.org/clinvar/348375 ^@ NM_000128.3(F11):c.1016G>T (p.Cys339Phe) http://identifiers.org/clinvar/358192 ^@ NM_183050.3(BCKDHB):c.*832C>T http://identifiers.org/clinvar/358242 ^@ NM_014165.3(NDUFAF4):c.*1748T>C http://identifiers.org/clinvar/358292 ^@ NM_003227.3(TFR2):c.1249A>G (p.Ile417Val) http://identifiers.org/clinvar/358342 ^@ NM_198999.2(SLC26A5):c.*75G>A http://identifiers.org/clinvar/358592 ^@ NM_000108.4(DLD):c.*1791_*1794delTTTA http://identifiers.org/clinvar/362480 ^@ NM_005144.4(HR):c.3224_3227dupCCGG (p.Ala1077Argfs) http://identifiers.org/clinvar/358692 ^@ NM_001127500.2(MET):c.3576+12G>T http://identifiers.org/clinvar/362580 ^@ NM_006129.4(BMP1):c.1112G>A (p.Arg371His) http://identifiers.org/clinvar/358842 ^@ NM_000230.2(LEP):c.*2205G>A http://identifiers.org/clinvar/358992 ^@ NM_005989.3(AKR1D1):c.*1298A>G http://identifiers.org/clinvar/362930 ^@ NM_003816.2(ADAM9):c.1130+8C>G http://identifiers.org/clinvar/362980 ^@ NM_000037.3(ANK1):c.5614C>T (p.Arg1872Trp) http://identifiers.org/clinvar/363230 ^@ NM_005914.3(MCM4):c.1209A>G (p.Pro403=) http://identifiers.org/clinvar/363730 ^@ NM_018972.2(GDAP1):c.*864G>C http://identifiers.org/clinvar/363780 ^@ NM_000318.2(PEX2):c.*2294C>G http://identifiers.org/clinvar/360581 ^@ NM_153033.4(KCTD7):c.-87A>C http://identifiers.org/clinvar/360681 ^@ NM_000501.3(ELN):c.*1062dupT http://identifiers.org/clinvar/364969 ^@ NM_002316.3(LMX1B):c.*3346G>T http://identifiers.org/clinvar/356403 ^@ NM_080680.2(COL11A2):c.2054G>C (p.Gly685Ala) http://identifiers.org/clinvar/365169 ^@ NM_001130438.2(SPTAN1):c.4344+8T>C http://identifiers.org/clinvar/365219 ^@ NM_000113.2(TOR1A):c.*623C>T http://identifiers.org/clinvar/365319 ^@ NM_015046.5(SETX):c.*1288T>C http://identifiers.org/clinvar/365369 ^@ NM_015046.5(SETX):c.1922C>G (p.Ser641Cys) http://identifiers.org/clinvar/356653 ^@ NM_005943.5(MOCS1):c.*26C>A http://identifiers.org/clinvar/361181 ^@ NM_015713.4(RRM2B):c.-88C>A http://identifiers.org/clinvar/356503 ^@ NM_182548.3(LHFPL5):c.*459_*460dupCA http://identifiers.org/clinvar/365619 ^@ NM_014694.3(ADAMTSL2):c.*291delC http://identifiers.org/clinvar/365669 ^@ NM_000787.3(DBH):c.1572C>T (p.Asn524=) http://identifiers.org/clinvar/361381 ^@ NM_178857.5(RP1L1):c.1271A>G (p.Lys424Arg) http://identifiers.org/clinvar/356753 ^@ NM_000322.4(PRPH2):c.*1230C>T http://identifiers.org/clinvar/361482 ^@ NM_001715.2(BLK):c.617C>G (p.Ser206Cys) http://identifiers.org/clinvar/356853 ^@ NM_014780.4(CUL7):c.841G>A (p.Ala281Thr) http://identifiers.org/clinvar/366020 ^@ NM_024757.4(EHMT1):c.2767G>A (p.Glu923Lys) http://identifiers.org/clinvar/311120 ^@ NM_001846.3(COL4A2):c.1179C>T (p.Ile393=) http://identifiers.org/clinvar/311170 ^@ NM_001846.3(COL4A2):c.4040-11_4040-8delTTGT http://identifiers.org/clinvar/311370 ^@ NM_004004.5(GJB2):c.*114T>C http://identifiers.org/clinvar/303661 ^@ NM_000890.3(KCNJ5):c.*1091G>A http://identifiers.org/clinvar/303911 ^@ NM_005566.3(LDHA):c.222A>G (p.Thr74=) http://identifiers.org/clinvar/304361 ^@ NM_000280.4(PAX6):c.-59G>T http://identifiers.org/clinvar/364180 ^@ NM_004612.3(TGFBR1):c.*4147G>A http://identifiers.org/clinvar/298933 ^@ NM_004132.4(HABP2):c.*682T>G http://identifiers.org/clinvar/312909 ^@ NM_000257.3(MYH7):c.2692C>T (p.Leu898=) http://identifiers.org/clinvar/313109 ^@ NM_020529.2(NFKBIA):c.894C>T (p.Phe298=) http://identifiers.org/clinvar/299083 ^@ NM_001609.3(ACADSB):c.1128+3A>G http://identifiers.org/clinvar/304611 ^@ NM_021926.3(ALX4):c.*3825G>C http://identifiers.org/clinvar/304711 ^@ NM_021926.3(ALX4):c.304C>T (p.Pro102Ser) http://identifiers.org/clinvar/313359 ^@ NM_000161.2(GCH1):c.*1824A>C http://identifiers.org/clinvar/299333 ^@ NM_001081.3(CUBN):c.*514T>G http://identifiers.org/clinvar/313509 ^@ NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) http://identifiers.org/clinvar/299383 ^@ NM_001081.3(CUBN):c.9267C>T (p.Thr3089=) http://identifiers.org/clinvar/314009 ^@ NM_000021.3(PSEN1):c.*4339T>C http://identifiers.org/clinvar/314109 ^@ NM_031427.3(DNAL1):c.*5963G>C http://identifiers.org/clinvar/299283 ^@ NM_001033855.2(DCLRE1C):c.*915G>A http://identifiers.org/clinvar/299483 ^@ NM_001081.3(CUBN):c.4092C>G (p.Ser1364=) http://identifiers.org/clinvar/314798 ^@ NM_198309.3(TTC8):c.245C>T (p.Thr82Met) http://identifiers.org/clinvar/299733 ^@ NM_014915.2(ANKRD26):c.3704A>T (p.Gln1235Leu) http://identifiers.org/clinvar/315098 ^@ NM_177438.2(DICER1):c.*88T>A http://identifiers.org/clinvar/299833 ^@ NM_021252.4(RAB18):c.*741A>G http://identifiers.org/clinvar/299883 ^@ NM_020975.4(RET):c.-187C>A http://identifiers.org/clinvar/315448 ^@ NM_022807.4(SNRPN):c.-86G>A http://identifiers.org/clinvar/315548 ^@ NM_133647.1(SLC12A6):c.*3520C>G http://identifiers.org/clinvar/300083 ^@ NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) http://identifiers.org/clinvar/315798 ^@ NM_002225.3(IVD):c.473G>A (p.Ser158Asn) http://identifiers.org/clinvar/315198 ^@ NM_139057.3(ADAMTS17):c.*1065G>A http://identifiers.org/clinvar/317788 ^@ NM_004862.3(LITAF):c.88A>T (p.Asn30Tyr) http://identifiers.org/clinvar/311220 ^@ NM_000131.4(F7):c.108G>A (p.Pro36=) http://identifiers.org/clinvar/311320 ^@ NM_021954.3(GJA3):c.*581A>G http://identifiers.org/clinvar/318090 ^@ NM_001143979.1(NDE1):c.948-9268G>C http://identifiers.org/clinvar/318140 ^@ NM_001143979.1(NDE1):c.*947G>A http://identifiers.org/clinvar/318390 ^@ NM_001089.2(ABCA3):c.*155G>A http://identifiers.org/clinvar/318740 ^@ NM_003321.4(TUFM):c.*110A>G http://identifiers.org/clinvar/310820 ^@ NM_018979.3(WNK1):c.3654A>G (p.Ser1218=) http://identifiers.org/clinvar/337707 ^@ NM_018848.3(MKKS):c.-557A>G http://identifiers.org/clinvar/337757 ^@ NM_000214.2(JAG1):c.756-14C>T http://identifiers.org/clinvar/337857 ^@ NM_000361.2(THBD):c.*1469C>T http://identifiers.org/clinvar/337907 ^@ NM_198994.2(TGM6):c.555C>T (p.Asp185=) http://identifiers.org/clinvar/337957 ^@ NM_014588.5(VSX1):c.809-6dupT http://identifiers.org/clinvar/313059 ^@ NM_025152.2(NUBPL):c.*1148delG http://identifiers.org/clinvar/313159 ^@ NM_006194.3(PAX9):c.-244G>T http://identifiers.org/clinvar/338997 ^@ NM_004738.4(VAPB):c.*4862A>G http://identifiers.org/clinvar/339097 ^@ NM_001001433.2(STX16):c.*2347_*2348insAAA http://identifiers.org/clinvar/339147 ^@ NM_207034.2(EDN3):c.*600A>G http://identifiers.org/clinvar/313409 ^@ NM_172337.2(OTX2):c.*779G>A http://identifiers.org/clinvar/313609 ^@ NM_182914.2(SYNE2):c.15293_15295delTTC (p.Leu5098del) http://identifiers.org/clinvar/339597 ^@ NM_000933.3(PLCB4):c.*90A>T http://identifiers.org/clinvar/313709 ^@ NM_000347.5(SPTB):c.5530G>C (p.Glu1844Gln) http://identifiers.org/clinvar/339747 ^@ NM_000219.5(KCNE1):c.*1447C>G http://identifiers.org/clinvar/339897 ^@ NM_144492.2(CLDN14):c.-272+9G>C http://identifiers.org/clinvar/340047 ^@ NM_024022.2(TMPRSS3):c.*409C>T http://identifiers.org/clinvar/314059 ^@ NM_031427.3(DNAL1):c.*2452G>A http://identifiers.org/clinvar/321544 ^@ NM_000833.4(GRIN2A):c.*4207G>A http://identifiers.org/clinvar/340197 ^@ NM_130445.3(COL18A1):c.613G>A (p.Val205Met) http://identifiers.org/clinvar/321644 ^@ NM_002472.2(MYH8):c.1989G>A (p.Thr663=) http://identifiers.org/clinvar/321744 ^@ NM_002470.3(MYH3):c.3039T>C (p.Ala1013=) http://identifiers.org/clinvar/321794 ^@ NM_004589.3(SCO1):c.640G>A (p.Ala214Thr) http://identifiers.org/clinvar/328271 ^@ NM_000528.3(MAN2B1):c.1273G>T (p.Val425Leu) http://identifiers.org/clinvar/326432 ^@ NM_177986.4(DSG4):c.1158T>A (p.His386Gln) http://identifiers.org/clinvar/342187 ^@ NM_000487.5(ARSA):c.*2205A>T http://identifiers.org/clinvar/326532 ^@ NM_001943.4(DSG2):c.*1473G>T http://identifiers.org/clinvar/342237 ^@ NM_000487.5(ARSA):c.659C>T (p.Pro220Leu) http://identifiers.org/clinvar/328421 ^@ NM_000435.2(NOTCH3):c.-47C>G http://identifiers.org/clinvar/328521 ^@ NM_000215.3(JAK3):c.190C>T (p.Leu64=) http://identifiers.org/clinvar/326882 ^@ NM_144612.6(LOXHD1):c.246-14C>T http://identifiers.org/clinvar/328621 ^@ NM_000095.2(COMP):c.566A>G (p.His189Arg) http://identifiers.org/clinvar/328671 ^@ NM_001031726.3(C19orf12):c.*3217T>C http://identifiers.org/clinvar/328721 ^@ NM_001031726.3(C19orf12):c.*466G>A http://identifiers.org/clinvar/327032 ^@ NM_001080467.2(MYO5B):c.3130+14C>T http://identifiers.org/clinvar/328771 ^@ NM_014270.4(SLC7A9):c.-90G>A http://identifiers.org/clinvar/328871 ^@ NM_004646.3(NPHS1):c.1440+11C>T http://identifiers.org/clinvar/327232 ^@ NM_001083962.1(TCF4):c.*5019T>C http://identifiers.org/clinvar/329071 ^@ NM_000540.2(RYR1):c.7874G>T (p.Arg2625Leu) http://identifiers.org/clinvar/368298 ^@ NM_001039891.2(ZNF674):c.-101A>G http://identifiers.org/clinvar/329221 ^@ NM_017827.3(SARS2):c.534+10G>A http://identifiers.org/clinvar/329171 ^@ NM_033064.4(ATCAY):c.*939G>A http://identifiers.org/clinvar/327971 ^@ NM_001005360.2(DNM2):c.-122G>A http://identifiers.org/clinvar/328071 ^@ NM_000527.4(LDLR):c.*767G>C http://identifiers.org/clinvar/328321 ^@ NM_006563.4(KLF1):c.311C>T (p.Ala104Val) http://identifiers.org/clinvar/328471 ^@ NM_000215.3(JAK3):c.*1293C>T http://identifiers.org/clinvar/328571 ^@ NM_000453.2(SLC5A5):c.*1217A>G http://identifiers.org/clinvar/328921 ^@ NM_001083961.1(WDR62):c.3161C>G (p.Pro1054Arg) http://identifiers.org/clinvar/328971 ^@ NM_032753.3(RAX2):c.76A>C (p.Lys26Gln) http://identifiers.org/clinvar/338107 ^@ NM_015338.5(ASXL1):c.3351C>A (p.Pro1117=) http://identifiers.org/clinvar/339647 ^@ NM_000484.3(APP):c.355+9G>A http://identifiers.org/clinvar/339697 ^@ NM_000628.4(IL10RB):c.*20C>T http://identifiers.org/clinvar/339997 ^@ NM_020639.2(RIPK4):c.*707G>A http://identifiers.org/clinvar/340648 ^@ NM_014339.6(IL17RA):c.*2066G>C http://identifiers.org/clinvar/340848 ^@ NM_004782.3(SNAP29):c.*505_*522del18 http://identifiers.org/clinvar/339497 ^@ NM_015192.3(PLCB1):c.627A>G (p.Pro209=) http://identifiers.org/clinvar/339547 ^@ NM_015192.3(PLCB1):c.*2307_*2310dupATCT http://identifiers.org/clinvar/339797 ^@ NM_001754.4(RUNX1):c.*4032T>C http://identifiers.org/clinvar/341787 ^@ NM_001429.3(EP300):c.1528+15T>C http://identifiers.org/clinvar/339847 ^@ NM_001754.4(RUNX1):c.*1295G>A http://identifiers.org/clinvar/341837 ^@ NM_001429.3(EP300):c.*298A>G http://identifiers.org/clinvar/341987 ^@ NM_006953.3(UPK3A):c.858A>G (p.Gln286=) http://identifiers.org/clinvar/389238 ^@ NM_020987.4(ANK3):c.6937G>T (p.Ala2313Ser) http://identifiers.org/clinvar/377652 ^@ NM_000077.4(CDKN2A):c.150+12G>A http://identifiers.org/clinvar/382506 ^@ NM_000093.4(COL5A1):c.5068-13G>A http://identifiers.org/clinvar/379601 ^@ NM_022124.5(CDH23):c.7660+1G>T http://identifiers.org/clinvar/388988 ^@ NM_020822.2(KCNT1):c.480C>T (p.Ser160=) http://identifiers.org/clinvar/377502 ^@ NM_000051.3(ATM):c.-24A>G http://identifiers.org/clinvar/379651 ^@ NM_019892.5(INPP5E):c.1159+9G>A http://identifiers.org/clinvar/389088 ^@ NM_152701.4(ABCA13):c.14617G>A (p.Gly4873Arg) http://identifiers.org/clinvar/391327 ^@ NM_004612.3(TGFBR1):c.723G>A (p.Ser241=) http://identifiers.org/clinvar/393266 ^@ NM_000920.3(PC):c.1267G>A (p.Asp423Asn) http://identifiers.org/clinvar/387299 ^@ NM_000445.4(PLEC):c.10238C>T (p.Ala3413Val) http://identifiers.org/clinvar/382456 ^@ NM_030813.5(CLPB):c.1377C>T (p.Ala459=) http://identifiers.org/clinvar/391677 ^@ NM_000051.3(ATM):c.1327C>T (p.Leu443=) http://identifiers.org/clinvar/389688 ^@ NM_032237.4(POMK):c.886A>G (p.Ile296Val) http://identifiers.org/clinvar/379501 ^@ NM_000314.6(PTEN):c.430A>T (p.Lys144Ter) http://identifiers.org/clinvar/382557 ^@ NM_006231.3(POLE):c.6246G>A (p.Glu2082=) http://identifiers.org/clinvar/383007 ^@ NM_005188.3(CBL):c.873T>C (p.Tyr291=) http://identifiers.org/clinvar/383207 ^@ NM_000256.3(MYBPC3):c.1374C>T (p.Arg458=) http://identifiers.org/clinvar/386999 ^@ NM_020822.2(KCNT1):c.434+15C>T http://identifiers.org/clinvar/389138 ^@ NM_002335.3(LRP5):c.375G>T (p.Thr125=) http://identifiers.org/clinvar/386649 ^@ NM_000059.3(BRCA2):c.5958C>T (p.Val1986=) http://identifiers.org/clinvar/392377 ^@ NM_024698.5(SLC25A22):c.146+20G>A http://identifiers.org/clinvar/391927 ^@ NM_003289.3(TPM2):c.759C>T (p.Ile253=) http://identifiers.org/clinvar/389288 ^@ NM_203447.3(DOCK8):c.2427C>T (p.Ile809=) http://identifiers.org/clinvar/377602 ^@ NM_000719.6(CACNA1C):c.1065G>A (p.Thr355=) http://identifiers.org/clinvar/392477 ^@ NM_130838.1(UBE3A):c.866C>G (p.Ala289Gly) http://identifiers.org/clinvar/387399 ^@ NM_003276.2(TMPO):c.357T>G (p.Asp119Glu) http://identifiers.org/clinvar/391427 ^@ NM_020751.2(COG6):c.1284+19A>T http://identifiers.org/clinvar/387699 ^@ NM_000051.3(ATM):c.5886A>G (p.Ala1962=) http://identifiers.org/clinvar/378409 ^@ NM_002693.2(POLG):c.856-11C>T http://identifiers.org/clinvar/387099 ^@ NM_001376.4(DYNC1H1):c.9402G>A (p.Pro3134=) http://identifiers.org/clinvar/387499 ^@ NM_001876.3(CPT1A):c.142-16G>A http://identifiers.org/clinvar/392077 ^@ NM_017882.2(CLN6):c.43G>T (p.Gly15Cys) http://identifiers.org/clinvar/387649 ^@ NM_002693.2(POLG):c.723G>A (p.Pro241=) http://identifiers.org/clinvar/392227 ^@ NM_001127464.2(ZNF469):c.11322C>A (p.His3774Gln) http://identifiers.org/clinvar/392177 ^@ NM_001128301.2(LYRM1):c.134G>T (p.Arg45Ile) http://identifiers.org/clinvar/47814 ^@ NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) http://identifiers.org/clinvar/47864 ^@ NM_138691.2(TMC1):c.1763+3A>G http://identifiers.org/clinvar/47914 ^@ NM_144573.3(NEXN):c.893C>G (p.Thr298Arg) http://identifiers.org/clinvar/47964 ^@ NM_152594.2(SPRED1):c.1108C>T (p.Leu370Phe) http://identifiers.org/clinvar/48016 ^@ NM_153676.3(USH1C):c.496+13A>G http://identifiers.org/clinvar/48066 ^@ NM_005572.3(LMNA):c.438C>T (p.Ala146=) http://identifiers.org/clinvar/48116 ^@ NM_000337.5(SGCD):c.213G>A (p.Arg71=) http://identifiers.org/clinvar/48166 ^@ NM_194248.2(OTOF):c.1194T>A (p.Asp398Glu) http://identifiers.org/clinvar/48216 ^@ NM_194248.2(OTOF):c.3480C>T (p.Ile1160=) http://identifiers.org/clinvar/48266 ^@ NM_194248.2(OTOF):c.5695G>A (p.Asp1899Asn) http://identifiers.org/clinvar/48316 ^@ NM_198056.2(SCN5A):c.717C>T (p.Ile239=) http://identifiers.org/clinvar/48367 ^@ NM_206933.2(USH2A):c.11191G>C (p.Glu3731Gln) http://identifiers.org/clinvar/48417 ^@ NM_206933.2(USH2A):c.13396C>T (p.Pro4466Ser) http://identifiers.org/clinvar/48467 ^@ NM_206933.2(USH2A):c.15522T>C (p.Tyr5174=) http://identifiers.org/clinvar/48519 ^@ NM_206933.2(USH2A):c.4578G>T (p.Gly1526=) http://identifiers.org/clinvar/70 ^@ NM_000374.4(UROD):c.185C>T (p.Pro62Leu) http://identifiers.org/clinvar/80 ^@ NM_000235.3(LIPA):c.594dupT (p.Ala199Cysfs) http://identifiers.org/clinvar/97 ^@ NM_000355.3(TCN2):c.776G>C (p.Arg259Pro) http://identifiers.org/clinvar/185 ^@ NM_001385.2(DPYS):c.1303G>A (p.Gly435Arg) http://identifiers.org/clinvar/252 ^@ NM_000398.6(CYB5R3):c.719A>G (p.Asp240Gly) http://identifiers.org/clinvar/266 ^@ NM_178452.5(DNAAF1):c.508dupG (p.Glu170Glyfs) http://identifiers.org/clinvar/312 ^@ NM_000552.4(VWF):c.2384A>G (p.Tyr795Cys) http://identifiers.org/clinvar/345 ^@ NM_000267.3(NF1):c.3113+1G>A http://identifiers.org/clinvar/419 ^@ NM_000290.3(PGAM2):c.266A>C (p.Glu89Ala) http://identifiers.org/clinvar/518 ^@ LMRBD1, 1-BP DEL, 404C http://identifiers.org/clinvar/532 ^@ DCAF17, IVS13, G-T, +5 http://identifiers.org/clinvar/546 ^@ NM_001145308.4(LRTOMT):c.333C>G (p.Tyr111Ter) http://identifiers.org/clinvar/587 ^@ NM_000277.1(PAH):c.473G>A (p.Arg158Gln) http://identifiers.org/clinvar/596 ^@ NM_000277.1(PAH):c.814G>T (p.Gly272Ter) http://identifiers.org/clinvar/732 ^@ NM_018077.2(RBM28):c.1052T>C (p.Leu351Pro) http://identifiers.org/clinvar/741 ^@ CC2D2A, IVS19DS, G-C, +1 http://identifiers.org/clinvar/750 ^@ ZFYVE26, IVS28AS, G-A, -1 http://identifiers.org/clinvar/809 ^@ NM_000038.5(APC):c.1885_1886insA (p.Leu629Tyrfs) http://identifiers.org/clinvar/841 ^@ NG_008481.4:g.(?_150033)_(158719_?)del http://identifiers.org/clinvar/979 ^@ NM_001099667.1(ARMS2):c.205G>T (p.Ala69Ser) http://identifiers.org/clinvar/1124 ^@ NM_015139.2(SLC35D1):c.932G>A (p.Trp311Ter) http://identifiers.org/clinvar/1133 ^@ NM_001142617.1(STRA6):c.878C>T (p.Pro293Leu) http://identifiers.org/clinvar/1156 ^@ PFKM, IVS5DS, G-A, +1 http://identifiers.org/clinvar/1200 ^@ NM_020381.3(PDSS2):c.964C>T (p.Gln322Ter) http://identifiers.org/clinvar/1246 ^@ NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) http://identifiers.org/clinvar/1297 ^@ NM_001042702.3(DFNB59):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/1341 ^@ CEP290, EX3, T-A, +2 http://identifiers.org/clinvar/1387 ^@ NM_153704.5(TMEM67):c.755T>C (p.Met252Thr) http://identifiers.org/clinvar/1432 ^@ NM_001177317.1(SLC34A3):c.1402C>T (p.Arg468Trp) http://identifiers.org/clinvar/1478 ^@ NM_000190.3(HMBS):c.647G>A (p.Gly216Asp) http://identifiers.org/clinvar/1523 ^@ LPL, 6-KB DEL http://identifiers.org/clinvar/1569 ^@ NM_000263.3(NAGLU):c.142T>C (p.Phe48Leu) http://identifiers.org/clinvar/1613 ^@ NM_014780.4(CUL7):c.4333C>T (p.Arg1445Ter) http://identifiers.org/clinvar/1663 ^@ NM_000785.3(CYP27B1):c.692delC (p.Thr232Argfs) http://identifiers.org/clinvar/1708 ^@ NM_000124.3(ERCC6):c.229C>T (p.Arg77Ter) http://identifiers.org/clinvar/1755 ^@ NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) http://identifiers.org/clinvar/1804 ^@ NM_000102.3(CYP17A1):c.1247G>A (p.Arg416His) http://identifiers.org/clinvar/2474 ^@ NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) http://identifiers.org/clinvar/2568 ^@ NM_006493.2(CLN5):c.1054G>T (p.Glu352Ter) http://identifiers.org/clinvar/2613 ^@ ASPA, EX4DEL http://identifiers.org/clinvar/2705 ^@ NM_021098.2(CACNA1H):c.1853C>T (p.Pro618Leu) http://identifiers.org/clinvar/2751 ^@ NM_004183.3(BEST1):c.704T>C (p.Val235Ala) http://identifiers.org/clinvar/2797 ^@ NM_032520.4(GNPTG):c.333G>A (p.Trp111Ter) http://identifiers.org/clinvar/2888 ^@ NM_032531.3(KIRREL3):c.2191G>T (p.Val731Phe) http://identifiers.org/clinvar/2932 ^@ NM_002076.3(GNS):c.1063C>T (p.Arg355Ter) http://identifiers.org/clinvar/2978 ^@ NM_000271.4(NPC1):c.337T>C (p.Cys113Arg) http://identifiers.org/clinvar/3022 ^@ NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) http://identifiers.org/clinvar/3072 ^@ NM_000487.5(ARSA):c.697C>A (p.Pro233Thr) http://identifiers.org/clinvar/3171 ^@ NM_000187.3(HGD):c.175delA (p.Ser59Alafs) http://identifiers.org/clinvar/3217 ^@ FKTN, 1-BP DEL, 42G http://identifiers.org/clinvar/3266 ^@ NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys) http://identifiers.org/clinvar/3310 ^@ NM_000383.3(AIRE):c.415C>T (p.Arg139Ter) http://identifiers.org/clinvar/3356 ^@ NM_006445.3(PRPF8):c.6926A>C (p.His2309Pro) http://identifiers.org/clinvar/100057 ^@ NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) http://identifiers.org/clinvar/10923 ^@ NM_000397.3(CYBB):c.217C>T (p.Arg73Ter) http://identifiers.org/clinvar/10969 ^@ NM_000475.4(NR0B1):c.1316T>G (p.Ile439Ser) http://identifiers.org/clinvar/11013 ^@ NM_000531.5(OTC):c.118C>T (p.Arg40Cys) http://identifiers.org/clinvar/11059 ^@ NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) http://identifiers.org/clinvar/11103 ^@ TAZ, 1-BP INS, NT868 http://identifiers.org/clinvar/11149 ^@ NM_000390.3(CHM):c.1484C>A (p.Ser495Ter) http://identifiers.org/clinvar/11195 ^@ ARX, EX1-2DEL http://identifiers.org/clinvar/11285 ^@ DMD, 16-BP DEL http://identifiers.org/clinvar/11376 ^@ NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) http://identifiers.org/clinvar/11485 ^@ NM_006579.2(EBP):c.238G>A (p.Glu80Lys) http://identifiers.org/clinvar/11536 ^@ NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) http://identifiers.org/clinvar/11586 ^@ NM_001363.4(DKC1):c.1205G>A (p.Gly402Glu) http://identifiers.org/clinvar/11636 ^@ NM_006517.4(SLC16A2):c.1190T>C (p.Leu397Pro) http://identifiers.org/clinvar/11687 ^@ NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) http://identifiers.org/clinvar/11737 ^@ ATRX, IVS34, A-G, -2 http://identifiers.org/clinvar/11889 ^@ NM_001061.4(TBXAS1):c.1238G>A (p.Arg413Gln) http://identifiers.org/clinvar/11939 ^@ NM_000056.4(BCKDHB):c.356T>G (p.Val119Gly) http://identifiers.org/clinvar/11990 ^@ NM_000170.2(GLDC):c.2216G>A (p.Arg739His) http://identifiers.org/clinvar/12041 ^@ NM_001018115.2(FANCD2):c.958C>T (p.Gln320Ter) http://identifiers.org/clinvar/12091 ^@ NM_199186.2(BPGM):c.268C>T (p.Arg90Cys) http://identifiers.org/clinvar/12141 ^@ NM_000148.3(FUT1):c.826C>T (p.Gln276Ter) http://identifiers.org/clinvar/12195 ^@ XBP1, -116C-G http://identifiers.org/clinvar/12247 ^@ NM_004360.4(CDH1):c.-124-161C>A http://identifiers.org/clinvar/12297 ^@ NM_004181.4(UCHL1):c.279C>G (p.Ile93Met) http://identifiers.org/clinvar/12349 ^@ NM_000546.5(TP53):c.733G>T (p.Gly245Cys) http://identifiers.org/clinvar/12400 ^@ NM_000548.4(TSC2):c.1096G>T (p.Glu366Ter) http://identifiers.org/clinvar/12452 ^@ NM_152263.3(TPM3):c.298C>A (p.Leu100Met) http://identifiers.org/clinvar/12502 ^@ NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) http://identifiers.org/clinvar/12552 ^@ NM_001128177.1(THRB):c.1033G>A (p.Gly345Ser) http://identifiers.org/clinvar/12603 ^@ NM_005343.3(HRAS):c.35G>C (p.Gly12Ala) http://identifiers.org/clinvar/12653 ^@ NM_133378.4(TTN):c.100163T>C (p.Leu33388Pro) http://identifiers.org/clinvar/12704 ^@ NM_003235.4(TG):c.5690G>A (p.Cys1897Tyr) http://identifiers.org/clinvar/12755 ^@ NM_014654.3(SDC3):c.986C>T (p.Thr329Ile) http://identifiers.org/clinvar/12805 ^@ NM_004959.4(NR5A1):c.877G>A (p.Asp293Asn) http://identifiers.org/clinvar/12855 ^@ NM_003126.2(SPTA1):c.82C>T (p.Arg28Cys) http://identifiers.org/clinvar/12906 ^@ NM_003041.3(SLC5A2):c.500delA (p.Gln167Argfs) http://identifiers.org/clinvar/13058 ^@ RHAG, 1-BP DEL, 1086A http://identifiers.org/clinvar/13109 ^@ NM_000283.3(PDE6B):c.2419T>A (p.Trp807Arg) http://identifiers.org/clinvar/13159 ^@ NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp) http://identifiers.org/clinvar/13211 ^@ SFTPC, IVS4DS, G-T, +1 http://identifiers.org/clinvar/13262 ^@ NM_004431.4(EPHA2):c.2162G>A (p.Arg721Gln) http://identifiers.org/clinvar/13313 ^@ NM_000506.4(F2):c.1274G>A (p.Arg425His) http://identifiers.org/clinvar/38254 ^@ NM_000059.3(BRCA2):c.9605C>T (p.Pro3202Leu) http://identifiers.org/clinvar/38316 ^@ NM_000168.5(GLI3):c.2483delC (p.Pro828Argfs) http://identifiers.org/clinvar/38373 ^@ NM_005211.3(CSF1R):c.1766G>A (p.Gly589Glu) http://identifiers.org/clinvar/38428 ^@ NM_024312.4(GNPTAB):c.3567dupA (p.Asn1190Lysfs) http://identifiers.org/clinvar/38576 ^@ NM_000060.4(BTD):c.758C>T (p.Pro253Leu) http://identifiers.org/clinvar/38756 ^@ NM_000495.4(COL4A5):c.1589G>A (p.Gly530Asp) http://identifiers.org/clinvar/38868 ^@ NM_000282.3(PCCA):c.491T>C (p.Ile164Thr) http://identifiers.org/clinvar/38930 ^@ NM_001193466.1(KANSL1):c.985_986delTT (p.Leu329Glufs) http://identifiers.org/clinvar/39032 ^@ NM_024312.4(GNPTAB):c.1381T>G (p.Cys461Gly) http://identifiers.org/clinvar/39082 ^@ NM_024312.4(GNPTAB):c.517_518insA (p.Pro173Hisfs) http://identifiers.org/clinvar/39139 ^@ NM_198578.3(LRRK2):c.1653C>G (p.Asn551Lys) http://identifiers.org/clinvar/39189 ^@ NM_198578.3(LRRK2):c.4402A>G (p.Lys1468Glu) http://identifiers.org/clinvar/39239 ^@ NM_198578.3(LRRK2):c.7224G>A (p.Met2408Ile) http://identifiers.org/clinvar/39290 ^@ NR_001566.1(TERC):n.322G>A http://identifiers.org/clinvar/39452 ^@ ATP6V0A2, 7-BP DEL, NT2355 http://identifiers.org/clinvar/39504 ^@ NM_183075.2(CYP2U1):c.1462C>T (p.Arg488Trp) http://identifiers.org/clinvar/39554 ^@ NM_019032.5(ADAMTSL4):c.79-1G>A http://identifiers.org/clinvar/39605 ^@ NM_014254.2(TMEM5):c.1019_1020delGAinsTT (p.Arg340Leu) http://identifiers.org/clinvar/39656 ^@ NM_001904.3(CTNNB1):c.925C>T (p.Gln309Ter) http://identifiers.org/clinvar/39708 ^@ NM_012127.2(CIZ1):c.790A>G (p.Ser264Gly) http://identifiers.org/clinvar/39759 ^@ NM_000162.3(GCK):c.1015G>A (p.Glu339Lys) http://identifiers.org/clinvar/39809 ^@ NM_000390.3(CHM):c.1520A>G (p.His507Arg) http://identifiers.org/clinvar/39860 ^@ NM_001080414.3(CCDC88C):c.5058+1G>A http://identifiers.org/clinvar/40044 ^@ NM_001256849.1(POLD1):c.1433G>A (p.Ser478Asn) http://identifiers.org/clinvar/40335 ^@ NM_004333.4(BRAF):c.64G>A (p.Asp22Asn) http://identifiers.org/clinvar/40407 ^@ NM_005188.3(CBL):c.1227+2_1227+4delTACinsAAG http://identifiers.org/clinvar/40475 ^@ NM_002524.4(NRAS):c.334G>T (p.Val112Leu) http://identifiers.org/clinvar/41020 ^@ NM_000530.7(MPZ):c.337G>T (p.Val113Phe) http://identifiers.org/clinvar/41076 ^@ NM_003611.2(OFD1):c.1334_1335delTG (p.Leu445Argfs) http://identifiers.org/clinvar/51144 ^@ NM_000059.3(BRCA2):c.1568A>T (p.His523Leu) http://identifiers.org/clinvar/51195 ^@ NM_000059.3(BRCA2):c.1793C>T (p.Thr598Ile) http://identifiers.org/clinvar/51248 ^@ NM_000059.3(BRCA2):c.2135T>C (p.Leu712Pro) http://identifiers.org/clinvar/52719 ^@ NM_000059.3(BRCA2):c.897_898insC (p.Val300Argfs) http://identifiers.org/clinvar/52770 ^@ NM_000059.3(BRCA2):c.9187C>T (p.Pro3063Ser) http://identifiers.org/clinvar/52821 ^@ NM_000059.3(BRCA2):c.9360delT (p.Ile3120Metfs) http://identifiers.org/clinvar/52872 ^@ NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) http://identifiers.org/clinvar/52922 ^@ NM_000059.3(BRCA2):c.993_994delAA (p.Lys331Asnfs) http://identifiers.org/clinvar/52972 ^@ NM_000218.2(KCNQ1):c.1201dupC (p.Arg401Profs) http://identifiers.org/clinvar/53022 ^@ NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) http://identifiers.org/clinvar/53072 ^@ NM_000218.2(KCNQ1):c.573_577delGCGCT (p.Arg192Cysfs) http://identifiers.org/clinvar/53123 ^@ NM_000218.2(KCNQ1):c.913T>C (p.Trp305Arg) http://identifiers.org/clinvar/53175 ^@ NM_000492.3(CFTR):c.1057C>T (p.Gln353Ter) http://identifiers.org/clinvar/53226 ^@ NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser) http://identifiers.org/clinvar/53278 ^@ NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) http://identifiers.org/clinvar/53329 ^@ NM_000492.3(CFTR):c.1676C>T (p.Ala559Val) http://identifiers.org/clinvar/53379 ^@ NM_000492.3(CFTR):c.1766+3A>G http://identifiers.org/clinvar/53430 ^@ NM_000492.3(CFTR):c.2045dupC (p.Gln685Thrfs) http://identifiers.org/clinvar/53484 ^@ NM_000492.3(CFTR):c.2391dupC (p.Gln799Serfs) http://identifiers.org/clinvar/53534 ^@ NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) http://identifiers.org/clinvar/53584 ^@ NM_000492.3(CFTR):c.2876C>T (p.Ala959Val) http://identifiers.org/clinvar/53635 ^@ NM_000492.3(CFTR):c.3039dupC (p.Tyr1014Leufs) http://identifiers.org/clinvar/53687 ^@ NM_000492.3(CFTR):c.3211C>T (p.Gln1071Ter) http://identifiers.org/clinvar/53737 ^@ NM_000492.3(CFTR):c.3418_3420delATG (p.Met1140del) http://identifiers.org/clinvar/53788 ^@ NM_000492.3(CFTR):c.3713A>G (p.Gln1238Arg) http://identifiers.org/clinvar/53842 ^@ NM_000492.3(CFTR):c.388C>G (p.Leu130Val) http://identifiers.org/clinvar/53892 ^@ NM_000492.3(CFTR):c.4114C>A (p.Pro1372Thr) http://identifiers.org/clinvar/53943 ^@ NM_000492.3(CFTR):c.437A>G (p.His146Arg) http://identifiers.org/clinvar/53993 ^@ NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) http://identifiers.org/clinvar/54043 ^@ NM_000492.3(CFTR):c.711G>C (p.Gln237His) http://identifiers.org/clinvar/54686 ^@ NM_007294.3(BRCA1):c.2812_2813delCC (p.Pro938Serfs) http://identifiers.org/clinvar/54736 ^@ NM_007294.3(BRCA1):c.2974_2990del17 (p.Thr992Serfs) http://identifiers.org/clinvar/54786 ^@ NM_007294.3(BRCA1):c.3168delC (p.Ser1057Valfs) http://identifiers.org/clinvar/54836 ^@ NM_007294.3(BRCA1):c.3319G>T (p.Glu1107Ter) http://identifiers.org/clinvar/54886 ^@ NM_007294.3(BRCA1):c.3437G>C (p.Cys1146Ser) http://identifiers.org/clinvar/54936 ^@ NM_007294.3(BRCA1):c.3613G>A (p.Gly1205Arg) http://identifiers.org/clinvar/54988 ^@ NM_007294.3(BRCA1):c.3753T>A (p.Cys1251Ter) http://identifiers.org/clinvar/55039 ^@ NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) http://identifiers.org/clinvar/55090 ^@ NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter) http://identifiers.org/clinvar/55192 ^@ NM_007294.3(BRCA1):c.43A>C (p.Ile15Leu) http://identifiers.org/clinvar/55242 ^@ NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys) http://identifiers.org/clinvar/55293 ^@ NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) http://identifiers.org/clinvar/55343 ^@ NM_007294.3(BRCA1):c.4986+5G>T http://identifiers.org/clinvar/55393 ^@ NM_007294.3(BRCA1):c.508C>T (p.Arg170Trp) http://identifiers.org/clinvar/55443 ^@ NM_007294.3(BRCA1):c.5176A>G (p.Arg1726Gly) http://identifiers.org/clinvar/55495 ^@ NM_007294.3(BRCA1):c.5277+21T>G http://identifiers.org/clinvar/55546 ^@ NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter) http://identifiers.org/clinvar/55596 ^@ NM_007294.3(BRCA1):c.5492delC (p.Pro1831Leufs) http://identifiers.org/clinvar/55646 ^@ NM_007294.3(BRCA1):c.612G>C (p.Leu204Phe) http://identifiers.org/clinvar/55699 ^@ NM_007294.3(BRCA1):c.787G>T (p.Gly263Cys) http://identifiers.org/clinvar/55750 ^@ NM_007294.3(BRCA1):c.909delA (p.Glu303Aspfs) http://identifiers.org/clinvar/55818 ^@ NM_001278689.1(EOGT):c.1130G>A (p.Arg377Gln) http://identifiers.org/clinvar/55884 ^@ NM_001258221.1(KCTD1):c.92C>A (p.Pro31His) http://identifiers.org/clinvar/55958 ^@ NM_000100.3(CSTB):c.168G>A (p.Lys56=) http://identifiers.org/clinvar/56008 ^@ NM_000111.2(SLC26A3):c.659A>C (p.His220Pro) http://identifiers.org/clinvar/56061 ^@ NM_000170.2(GLDC):c.2182G>C (p.Gly728Arg) http://identifiers.org/clinvar/56112 ^@ NM_000274.3(OAT):c.1118G>A (p.Gly373Glu) http://identifiers.org/clinvar/56167 ^@ NM_000224.2(KRT18):c.134G>C (p.Arg45Pro) http://identifiers.org/clinvar/56472 ^@ NM_004646.3(NPHS1):c.2405G>C (p.Arg802Pro) http://identifiers.org/clinvar/56522 ^@ NM_004646.3(NPHS1):c.766C>T (p.Arg256Trp) http://identifiers.org/clinvar/56574 ^@ NM_015294.4(TRIM37):c.965G>T (p.Gly322Val) http://identifiers.org/clinvar/56631 ^@ NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) http://identifiers.org/clinvar/242648 ^@ NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) http://identifiers.org/clinvar/126578 ^@ NM_024675.3(PALB2):c.-47G>A http://identifiers.org/clinvar/126628 ^@ NM_024675.3(PALB2):c.1947dupA (p.Glu650Argfs) http://identifiers.org/clinvar/126680 ^@ NM_024675.3(PALB2):c.2761C>T (p.Gln921Ter) http://identifiers.org/clinvar/126730 ^@ NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) http://identifiers.org/clinvar/126781 ^@ NM_024675.3(PALB2):c.94C>G (p.Leu32Val) http://identifiers.org/clinvar/126832 ^@ NM_000321.2(RB1):c.1215+1G>A http://identifiers.org/clinvar/126886 ^@ NM_017545.2(HAO1):c.290-4862A>G http://identifiers.org/clinvar/126941 ^@ NM_001127464.2(ZNF469):c.3236G>A (p.Arg1079Gln) http://identifiers.org/clinvar/126991 ^@ NM_005732.3(RAD50):c.-352G>A http://identifiers.org/clinvar/159950 ^@ NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp) http://identifiers.org/clinvar/160373 ^@ NM_012275.2(IL36RN):c.104A>G (p.Lys35Arg) http://identifiers.org/clinvar/160825 ^@ GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3 http://identifiers.org/clinvar/160878 ^@ GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1 http://identifiers.org/clinvar/160929 ^@ GRCh37/hg19 17q12(chr17:34508117-36248918)x3 http://identifiers.org/clinvar/160980 ^@ GRCh38/hg38 9p24.3(chr9:204193-381489)x3 http://identifiers.org/clinvar/161031 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1 http://identifiers.org/clinvar/161081 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 http://identifiers.org/clinvar/161131 ^@ NM_152296.4(ATP1A3):c.2264G>C (p.Gly755Ala) http://identifiers.org/clinvar/161213 ^@ NM_000724.3(CACNB2):c.1611C>A (p.Asp537Glu) http://identifiers.org/clinvar/161313 ^@ NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) http://identifiers.org/clinvar/161263 ^@ NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) http://identifiers.org/clinvar/161363 ^@ NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) http://identifiers.org/clinvar/161832 ^@ NM_173632.3(ZNF776):c.574A>C (p.Asn192His) http://identifiers.org/clinvar/189520 ^@ NM_000314.6(PTEN):c.-1059C>G http://identifiers.org/clinvar/165105 ^@ NM_001035.2(RYR2):c.6983C>T (p.Pro2328Leu) http://identifiers.org/clinvar/165819 ^@ NM_133378.4(TTN):c.71706G>A (p.Gly23902=) http://identifiers.org/clinvar/165916 ^@ NM_001256850.1(TTN):c.57294T>A (p.Tyr19098Ter) http://identifiers.org/clinvar/167787 ^@ NM_001256850.1(TTN):c.36243C>T (p.Asp12081=) http://identifiers.org/clinvar/166115 ^@ NM_133378.4(TTN):c.28100C>G (p.Ala9367Gly) http://identifiers.org/clinvar/164871 ^@ NM_194248.2(OTOF):c.1580-7G>T http://identifiers.org/clinvar/163702 ^@ NM_001199799.1(ILDR1):c.461C>T (p.Ser154Leu) http://identifiers.org/clinvar/165988 ^@ NM_133378.4(TTN):c.45686C>T (p.Thr15229Ile) http://identifiers.org/clinvar/165255 ^@ NM_000441.1(SLC26A4):c.1544+9C>T http://identifiers.org/clinvar/164980 ^@ NM_002700.2(POU4F3):c.378G>T (p.Thr126=) http://identifiers.org/clinvar/163623 ^@ NM_032119.3(ADGRV1):c.16377G>T (p.Gln5459His) http://identifiers.org/clinvar/198802 ^@ NM_004385.4(VCAN):c.8809G>T (p.Asp2937Tyr) http://identifiers.org/clinvar/198909 ^@ NM_024596.4(MCPH1):c.1781C>G (p.Thr594Arg) http://identifiers.org/clinvar/198962 ^@ NM_001080463.1(DYNC2H1):c.12431C>G (p.Pro4144Arg) http://identifiers.org/clinvar/199014 ^@ NM_033290.3(MID1):c.1561C>T (p.Arg521Cys) http://identifiers.org/clinvar/199064 ^@ NM_001242957.2(MAK):c.975G>A (p.Pro325=) http://identifiers.org/clinvar/199118 ^@ NM_006017.2(PROM1):c.1077+6C>G http://identifiers.org/clinvar/199169 ^@ NM_023036.4(DNAI2):c.1188G>A (p.Arg396=) http://identifiers.org/clinvar/201390 ^@ NM_001035.2(RYR2):c.8262G>C (p.Gln2754His) http://identifiers.org/clinvar/199726 ^@ NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) http://identifiers.org/clinvar/201498 ^@ NM_198056.2(SCN5A):c.3629T>C (p.Phe1210Ser) http://identifiers.org/clinvar/201557 ^@ NM_198056.2(SCN5A):c.1753delC (p.His585Thrfs) http://identifiers.org/clinvar/201443 ^@ NM_198056.2(SCN5A):c.1080G>A (p.Trp360Ter) http://identifiers.org/clinvar/199835 ^@ NM_004415.3(DSP):c.237C>T (p.Ser79=) http://identifiers.org/clinvar/199892 ^@ NM_004415.3(DSP):c.5618G>T (p.Arg1873Leu) http://identifiers.org/clinvar/200254 ^@ NM_000238.3(KCNH2):c.3079C>A (p.Leu1027Ile) http://identifiers.org/clinvar/200797 ^@ NM_000238.3(KCNH2):c.2857delC (p.Leu953Serfs) http://identifiers.org/clinvar/200678 ^@ NM_000238.3(KCNH2):c.2785dupG (p.Glu929Glyfs) http://identifiers.org/clinvar/200402 ^@ NM_000238.3(KCNH2):c.1956T>A (p.Tyr652Ter) http://identifiers.org/clinvar/200564 ^@ NM_000238.3(KCNH2):c.214C>T (p.Pro72Ser) http://identifiers.org/clinvar/199667 ^@ NM_001613.2(ACTA2):c.178G>A (p.Ala60Thr) http://identifiers.org/clinvar/200855 ^@ NM_000218.2(KCNQ1):c.1686G>T (p.Arg562Ser) http://identifiers.org/clinvar/200977 ^@ NM_130799.2(MEN1):c.643G>A (p.Val215Met) http://identifiers.org/clinvar/200116 ^@ NM_000138.4(FBN1):c.7598A>G (p.Asn2533Ser) http://identifiers.org/clinvar/200062 ^@ NM_000138.4(FBN1):c.5700T>A (p.Cys1900Ter) http://identifiers.org/clinvar/199947 ^@ NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) http://identifiers.org/clinvar/200007 ^@ NM_000138.4(FBN1):c.2931G>C (p.Met977Ile) http://identifiers.org/clinvar/200174 ^@ NM_000138.4(FBN1):c.2728+1G>C http://identifiers.org/clinvar/201099 ^@ NM_002474.2(MYH11):c.508G>A (p.Glu170Lys) http://identifiers.org/clinvar/201046 ^@ NM_002474.2(MYH11):c.453G>A (p.Pro151=) http://identifiers.org/clinvar/199780 ^@ NM_024422.4(DSC2):c.356T>A (p.Val119Asp) http://identifiers.org/clinvar/200916 ^@ NM_000527.4(LDLR):c.1413A>G (p.Arg471=) http://identifiers.org/clinvar/201616 ^@ NM_020297.3(ABCC9):c.2019G>A (p.Lys673=) http://identifiers.org/clinvar/242596 ^@ NM_016124.4(RHD):c.667T>G (p.Phe223Val) http://identifiers.org/clinvar/203108 ^@ NM_001256850.1(TTN):c.102004G>A (p.Val34002Ile) http://identifiers.org/clinvar/203058 ^@ NM_001256850.1(TTN):c.95611A>T (p.Asn31871Tyr) http://identifiers.org/clinvar/203008 ^@ NM_001256850.1(TTN):c.89903A>G (p.Tyr29968Cys) http://identifiers.org/clinvar/202958 ^@ NM_001256850.1(TTN):c.84575T>A (p.Ile28192Lys) http://identifiers.org/clinvar/202908 ^@ NM_001256850.1(TTN):c.76778G>A (p.Gly25593Glu) http://identifiers.org/clinvar/202858 ^@ NM_001256850.1(TTN):c.70042G>A (p.Val23348Met) http://identifiers.org/clinvar/202808 ^@ NM_001256850.1(TTN):c.62359G>T (p.Val20787Leu) http://identifiers.org/clinvar/231436 ^@ NM_005732.3(RAD50):c.2718+1_2718+5delGTAAG http://identifiers.org/clinvar/229747 ^@ NM_020975.4(RET):c.2548G>A (p.Asp850Asn) http://identifiers.org/clinvar/233276 ^@ NM_000051.3(ATM):c.977T>C (p.Ile326Thr) http://identifiers.org/clinvar/231636 ^@ NM_000051.3(ATM):c.1118C>G (p.Thr373Arg) http://identifiers.org/clinvar/234029 ^@ NM_000051.3(ATM):c.1487G>A (p.Ser496Asn) http://identifiers.org/clinvar/232086 ^@ NM_000051.3(ATM):c.3531T>C (p.Cys1177=) http://identifiers.org/clinvar/233778 ^@ NM_000051.3(ATM):c.5364C>T (p.Gly1788=) http://identifiers.org/clinvar/230297 ^@ NM_000075.3(CDK4):c.829A>G (p.Thr277Ala) http://identifiers.org/clinvar/231686 ^@ NM_000059.3(BRCA2):c.2467G>A (p.Ala823Thr) http://identifiers.org/clinvar/230197 ^@ NM_000059.3(BRCA2):c.6535G>C (p.Val2179Leu) http://identifiers.org/clinvar/233828 ^@ NM_000059.3(BRCA2):c.7039C>G (p.Pro2347Ala) http://identifiers.org/clinvar/233726 ^@ NM_000059.3(BRCA2):c.7766C>T (p.Pro2589Leu) http://identifiers.org/clinvar/232186 ^@ NM_000059.3(BRCA2):c.8009delC (p.Ser2670Trpfs) http://identifiers.org/clinvar/230247 ^@ NM_000059.3(BRCA2):c.8215G>C (p.Val2739Leu) http://identifiers.org/clinvar/231786 ^@ NM_000548.4(TSC2):c.4779C>T (p.Tyr1593=) http://identifiers.org/clinvar/231886 ^@ NM_024675.3(PALB2):c.2971G>T (p.Val991Phe) http://identifiers.org/clinvar/231586 ^@ NM_024675.3(PALB2):c.1653T>C (p.Tyr551=) http://identifiers.org/clinvar/231086 ^@ NM_024675.3(PALB2):c.1456A>G (p.Lys486Glu) http://identifiers.org/clinvar/233979 ^@ NM_004360.4(CDH1):c.1137+1G>A http://identifiers.org/clinvar/231836 ^@ NM_004360.4(CDH1):c.1318A>G (p.Lys440Glu) http://identifiers.org/clinvar/232236 ^@ NM_004360.4(CDH1):c.1844T>C (p.Ile615Thr) http://identifiers.org/clinvar/233879 ^@ NM_004360.4(CDH1):c.2401C>G (p.Pro801Ala) http://identifiers.org/clinvar/234079 ^@ NM_001042492.2(NF1):c.923C>G (p.Ala308Gly) http://identifiers.org/clinvar/232136 ^@ NM_001042492.2(NF1):c.1263C>T (p.Ser421=) http://identifiers.org/clinvar/233676 ^@ NM_001042492.2(NF1):c.3963G>A (p.Val1321=) http://identifiers.org/clinvar/231986 ^@ NM_001042492.2(NF1):c.4017C>T (p.Leu1339=) http://identifiers.org/clinvar/232336 ^@ NM_001042492.2(NF1):c.5919T>C (p.Ala1973=) http://identifiers.org/clinvar/232036 ^@ NM_001042492.2(NF1):c.6585G>A (p.Glu2195=) http://identifiers.org/clinvar/233226 ^@ NM_001042492.2(NF1):c.7158T>C (p.Phe2386=) http://identifiers.org/clinvar/233929 ^@ NM_001042492.2(NF1):c.7623G>A (p.Arg2541=) http://identifiers.org/clinvar/234129 ^@ NM_007294.3(BRCA1):c.5371G>A (p.Val1791Met) http://identifiers.org/clinvar/231336 ^@ NM_007294.3(BRCA1):c.2022T>G (p.Pro674=) http://identifiers.org/clinvar/229697 ^@ NM_007294.3(BRCA1):c.1098T>C (p.Asp366=) http://identifiers.org/clinvar/231486 ^@ NM_058216.2(RAD51C):c.724G>A (p.Asp242Asn) http://identifiers.org/clinvar/231536 ^@ NM_032043.2(BRIP1):c.2833delG (p.Glu945Asnfs) http://identifiers.org/clinvar/231186 ^@ NM_032043.2(BRIP1):c.64T>A (p.Tyr22Asn) http://identifiers.org/clinvar/230097 ^@ NM_000455.4(STK11):c.108C>T (p.Tyr36=) http://identifiers.org/clinvar/235004 ^@ NM_170707.3(LMNA):c.949G>T (p.Glu317Ter) http://identifiers.org/clinvar/235054 ^@ NM_001035.2(RYR2):c.8130T>G (p.Asn2710Lys) http://identifiers.org/clinvar/235136 ^@ NM_001039213.3(CEACAM16):c.505G>A (p.Gly169Arg) http://identifiers.org/clinvar/235242 ^@ NM_001135091.1(MUC15):c.137C>G (p.Ser46Trp) http://identifiers.org/clinvar/236125 ^@ NM_000350.2(ABCA4):c.5189G>A (p.Trp1730Ter) http://identifiers.org/clinvar/236075 ^@ NM_000350.2(ABCA4):c.317A>T (p.Tyr106Phe) http://identifiers.org/clinvar/236175 ^@ NM_004621.5(TRPC6):c.1293+45T>C http://identifiers.org/clinvar/236263 ^@ NM_007294.3(BRCA1):c.5331_5332+1delinsCAACAT http://identifiers.org/clinvar/236314 ^@ NC_000001.9:g.144943150_146293282del1350133 http://identifiers.org/clinvar/236364 ^@ NC_000015.8:g.19852603_20778963dup926361 http://identifiers.org/clinvar/236515 ^@ NM_000350.2(ABCA4):c.1873C>T (p.Gln625Ter) http://identifiers.org/clinvar/236415 ^@ NM_006269.1(RP1):c.1462delG (p.Glu488Lysfs) http://identifiers.org/clinvar/236465 ^@ NM_025114.3(CEP290):c.4801C>T (p.Gln1601Ter) http://identifiers.org/clinvar/239515 ^@ NM_003238.4(TGFB2):c.904C>A (p.Arg302Ser) http://identifiers.org/clinvar/237119 ^@ NM_000143.3(FH):c.926C>T (p.Pro309Leu) http://identifiers.org/clinvar/239815 ^@ NM_004304.4(ALK):c.2816-7T>C http://identifiers.org/clinvar/237371 ^@ NM_000251.2(MSH2):c.1546A>G (p.Ser516Gly) http://identifiers.org/clinvar/237170 ^@ NM_000179.2(MSH6):c.292G>T (p.Ala98Ser) http://identifiers.org/clinvar/237321 ^@ NM_000249.3(MLH1):c.1752C>G (p.Asp584Glu) http://identifiers.org/clinvar/240065 ^@ NM_004656.3(BAP1):c.659+3A>C http://identifiers.org/clinvar/237271 ^@ NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) http://identifiers.org/clinvar/236565 ^@ NM_000038.5(APC):c.1875_1878delGACA (p.Asn627Leufs) http://identifiers.org/clinvar/236615 ^@ NM_000038.5(APC):c.5179T>C (p.Cys1727Arg) http://identifiers.org/clinvar/240216 ^@ NM_005732.3(RAD50):c.1744A>G (p.Ser582Gly) http://identifiers.org/clinvar/238961 ^@ NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) http://identifiers.org/clinvar/239062 ^@ NM_001903.4(CTNNA1):c.1991T>G (p.Ile664Arg) http://identifiers.org/clinvar/239665 ^@ NM_004168.3(SDHA):c.23C>G (p.Ser8Trp) http://identifiers.org/clinvar/239412 ^@ NM_002890.2(RASA1):c.2529dupT (p.Asn844Terfs) http://identifiers.org/clinvar/239112 ^@ NM_002290.4(LAMA4):c.1648-7delT http://identifiers.org/clinvar/239212 ^@ NM_002667.4(PLN):c.-211-30G>T http://identifiers.org/clinvar/238911 ^@ NM_001277115.1(DNAH11):c.338C>A (p.Ala113Glu) http://identifiers.org/clinvar/262764 ^@ NM_153717.2(EVC):c.1099-19T>C http://identifiers.org/clinvar/263064 ^@ NM_182925.4(FLT4):c.507G>T (p.Leu169=) http://identifiers.org/clinvar/257375 ^@ NM_001080479.2(ARHGEF28):c.4991C>T (p.Pro1664Leu) http://identifiers.org/clinvar/261175 ^@ NM_019105.6(TNXB):c.909C>G (p.Gly303=) http://identifiers.org/clinvar/262414 ^@ NM_138694.3(PKHD1):c.779-9C>T http://identifiers.org/clinvar/263114 ^@ NM_198428.2(BBS9):c.1275+13G>T http://identifiers.org/clinvar/255436 ^@ NM_000168.5(GLI3):c.3540G>A (p.Gly1180=) http://identifiers.org/clinvar/262664 ^@ NM_152564.4(VPS13B):c.8280T>C (p.Cys2760=) http://identifiers.org/clinvar/255136 ^@ NM_000113.2(TOR1A):c.621-41A>T http://identifiers.org/clinvar/255086 ^@ NM_000093.4(COL5A1):c.4176+48A>G http://identifiers.org/clinvar/262364 ^@ NM_133497.3(KCNV2):c.978C>T (p.Asp326=) http://identifiers.org/clinvar/257525 ^@ NM_001128227.2(GNE):c.258-18A>G http://identifiers.org/clinvar/256325 ^@ NM_000507.3(FBP1):c.706-44_706-41delTCTT http://identifiers.org/clinvar/261325 ^@ NM_020549.4(CHAT):c.-44G>C http://identifiers.org/clinvar/262214 ^@ NM_033100.3(CDHR1):c.297+6G>A http://identifiers.org/clinvar/255486 ^@ NM_000190.3(HMBS):c.613-19C>A http://identifiers.org/clinvar/263314 ^@ NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) http://identifiers.org/clinvar/254786 ^@ NM_000062.2(SERPING1):c.1438G>A (p.Val480Met) http://identifiers.org/clinvar/258564 ^@ NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) http://identifiers.org/clinvar/262814 ^@ NM_172364.4(CACNA2D4):c.2316C>T (p.Phe772=) http://identifiers.org/clinvar/256675 ^@ NM_000552.4(VWF):c.3795G>A (p.Pro1265=) http://identifiers.org/clinvar/262264 ^@ NM_052867.2(NALCN):c.4977C>T (p.Asp1659=) http://identifiers.org/clinvar/261225 ^@ NM_020366.3(RPGRIP1):c.*10T>C http://identifiers.org/clinvar/257125 ^@ NM_001024858.2(SPTB):c.4752C>T (p.Asn1584=) http://identifiers.org/clinvar/262514 ^@ NM_144596.3(TTC8):c.1432-12T>C http://identifiers.org/clinvar/255286 ^@ NM_000138.4(FBN1):c.1960+30G>A http://identifiers.org/clinvar/335711 ^@ NM_004304.4(ALK):c.597C>T (p.Gly199=) http://identifiers.org/clinvar/335811 ^@ NM_000348.3(SRD5A2):c.*224A>T http://identifiers.org/clinvar/333120 ^@ NM_000393.4(COL5A2):c.*515C>T http://identifiers.org/clinvar/335961 ^@ NM_000104.3(CYP1B1):c.-197C>G http://identifiers.org/clinvar/335361 ^@ NM_001035256.2(POMC):c.-70-13C>T http://identifiers.org/clinvar/336111 ^@ NM_133259.3(LRPPRC):c.*1806A>C http://identifiers.org/clinvar/333320 ^@ NM_001006657.1(WDR35):c.*3225G>A http://identifiers.org/clinvar/335461 ^@ NM_194248.2(OTOF):c.447G>A (p.Thr149=) http://identifiers.org/clinvar/335561 ^@ NM_144631.5(ZNF513):c.-24C>A http://identifiers.org/clinvar/333220 ^@ NM_005259.2(MSTN):c.*1145delA http://identifiers.org/clinvar/333670 ^@ NM_001204.6(BMPR2):c.*1306A>C http://identifiers.org/clinvar/336618 ^@ NM_001039348.2(EFEMP1):c.*168A>G http://identifiers.org/clinvar/333770 ^@ NM_005006.6(NDUFS1):c.*504G>A http://identifiers.org/clinvar/333570 ^@ NM_020919.3(ALS2):c.*1538C>G http://identifiers.org/clinvar/336161 ^@ NM_133259.3(LRPPRC):c.1674C>T (p.Ser558=) http://identifiers.org/clinvar/336968 ^@ NM_003494.3(DYSF):c.3873+10G>A http://identifiers.org/clinvar/336211 ^@ NM_000341.3(SLC3A1):c.1767C>T (p.Ile589=) http://identifiers.org/clinvar/334121 ^@ NM_000384.2(APOB):c.7989T>C (p.Ile2663=) http://identifiers.org/clinvar/336311 ^@ NM_001430.4(EPAS1):c.*1272C>T http://identifiers.org/clinvar/337168 ^@ NM_003849.3(SUCLG1):c.-133C>T http://identifiers.org/clinvar/334021 ^@ NM_001875.4(CPS1):c.1087-7C>T http://identifiers.org/clinvar/336418 ^@ NM_002354.2(EPCAM):c.*241C>G http://identifiers.org/clinvar/333970 ^@ NM_015040.3(PIKFYVE):c.*2247A>G http://identifiers.org/clinvar/334272 ^@ NM_173076.2(ABCA12):c.1166C>T (p.Ala389Val) http://identifiers.org/clinvar/336518 ^@ NM_001135659.2(NRXN1):c.*1327C>G http://identifiers.org/clinvar/337368 ^@ NM_022912.2(REEP1):c.*1914A>T http://identifiers.org/clinvar/334322 ^@ NM_015488.4(PNKD):c.628C>A (p.His210Asn) http://identifiers.org/clinvar/336668 ^@ NM_002618.3(PEX13):c.417A>G (p.Ala139=) http://identifiers.org/clinvar/334372 ^@ NM_000784.3(CYP27A1):c.871G>A (p.Glu291Lys) http://identifiers.org/clinvar/337018 ^@ NM_015120.4(ALMS1):c.6017A>G (p.Asp2006Gly) http://identifiers.org/clinvar/342298 ^@ NM_016247.3(IMPG2):c.*1954G>A http://identifiers.org/clinvar/335061 ^@ NM_002242.4(KCNJ13):c.-110A>T http://identifiers.org/clinvar/335111 ^@ NM_004369.3(COL6A3):c.6878C>T (p.Thr2293Met) http://identifiers.org/clinvar/335611 ^@ NM_001029883.2(C2orf71):c.*1199G>C http://identifiers.org/clinvar/335661 ^@ NM_001029883.2(C2orf71):c.1471G>A (p.Glu491Lys) http://identifiers.org/clinvar/335261 ^@ NM_004321.7(KIF1A):c.4162-10C>T http://identifiers.org/clinvar/335411 ^@ NM_000183.2(HADHB):c.*196A>G http://identifiers.org/clinvar/335861 ^@ NM_014946.3(SPAST):c.*1476A>G http://identifiers.org/clinvar/336061 ^@ NM_022437.2(ABCG8):c.36G>A (p.Pro12=) http://identifiers.org/clinvar/335761 ^@ NM_000379.3(XDH):c.3277-13delG http://identifiers.org/clinvar/357903 ^@ NM_012434.4(SLC17A5):c.*1492C>G http://identifiers.org/clinvar/359042 ^@ NM_004333.4(BRAF):c.*111C>T http://identifiers.org/clinvar/351666 ^@ NM_024577.3(SH3TC2):c.*14411G>A http://identifiers.org/clinvar/359242 ^@ NM_014141.5(CNTNAP2):c.*3144A>G http://identifiers.org/clinvar/351966 ^@ NM_000440.2(PDE6A):c.*1057C>T http://identifiers.org/clinvar/359792 ^@ NM_001031710.2(KLHL7):c.-215T>A http://identifiers.org/clinvar/352114 ^@ NM_005211.3(CSF1R):c.*231_*232insG http://identifiers.org/clinvar/359942 ^@ NM_005522.4(HOXA1):c.*1387C>G http://identifiers.org/clinvar/359992 ^@ NM_002047.3(GARS):c.-225G>A http://identifiers.org/clinvar/360042 ^@ NM_000823.3(GHRHR):c.*236C>A http://identifiers.org/clinvar/360192 ^@ NM_000168.5(GLI3):c.*1263C>T http://identifiers.org/clinvar/360392 ^@ NM_014855.2(AP5Z1):c.*1738C>T http://identifiers.org/clinvar/357153 ^@ NM_012120.2(CD2AP):c.-324G>C http://identifiers.org/clinvar/357203 ^@ NM_012120.2(CD2AP):c.*496delAinsGTGTGTGTG http://identifiers.org/clinvar/357253 ^@ NM_000255.3(MUT):c.*43G>T http://identifiers.org/clinvar/357353 ^@ NM_003221.3(TFAP2B):c.*4209T>A http://identifiers.org/clinvar/353253 ^@ NM_014324.5(AMACR):c.740-5C>G http://identifiers.org/clinvar/353353 ^@ NM_004172.4(SLC1A3):c.*1415G>A http://identifiers.org/clinvar/357503 ^@ NM_018100.3(EFHC1):c.*1037_*1044dupATATATAT http://identifiers.org/clinvar/353303 ^@ NM_002185.3(IL7R):c.*2275C>T http://identifiers.org/clinvar/361591 ^@ NM_014112.4(TRPS1):c.*718C>T http://identifiers.org/clinvar/358003 ^@ NM_004999.3(MYO6):c.*350T>C http://identifiers.org/clinvar/358103 ^@ NM_181714.3(LCA5):c.586C>T (p.Leu196=) http://identifiers.org/clinvar/361791 ^@ NM_004519.3(KCNQ3):c.*5521C>T http://identifiers.org/clinvar/358153 ^@ NM_022726.3(ELOVL4):c.-125C>G http://identifiers.org/clinvar/364280 ^@ NM_001701.3(BAAT):c.350A>G (p.Lys117Arg) http://identifiers.org/clinvar/364330 ^@ NM_005502.3(ABCA1):c.*2653C>G http://identifiers.org/clinvar/300283 ^@ NM_015634.3(KIF1BP):c.1083dupA (p.Ala362Serfs) http://identifiers.org/clinvar/364530 ^@ NM_001079802.1(FKTN):c.*5517T>C http://identifiers.org/clinvar/364430 ^@ NM_005502.3(ABCA1):c.2328G>C (p.Lys776Asn) http://identifiers.org/clinvar/364580 ^@ NM_003640.4(IKBKAP):c.304-5C>T http://identifiers.org/clinvar/300483 ^@ NM_022124.5(CDH23):c.*83G>A http://identifiers.org/clinvar/364730 ^@ NM_012210.3(TRIM32):c.*692C>G http://identifiers.org/clinvar/300683 ^@ NM_004273.4(CHST3):c.*4865C>T http://identifiers.org/clinvar/300933 ^@ NM_002247.3(KCNMA1):c.*1571C>T http://identifiers.org/clinvar/300983 ^@ NM_007055.3(POLR3A):c.*2134C>A http://identifiers.org/clinvar/364830 ^@ NM_000177.4(GSN):c.2268T>C (p.Phe756=) http://identifiers.org/clinvar/301083 ^@ NM_007055.3(POLR3A):c.240A>C (p.Leu80=) http://identifiers.org/clinvar/364980 ^@ NM_002316.3(LMX1B):c.*3804C>T http://identifiers.org/clinvar/365330 ^@ NM_015046.5(SETX):c.*561A>C http://identifiers.org/clinvar/365030 ^@ NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) http://identifiers.org/clinvar/365280 ^@ NM_007171.3(POMT1):c.1552+14G>A http://identifiers.org/clinvar/365430 ^@ NM_000368.4(TSC1):c.*2949A>T http://identifiers.org/clinvar/365480 ^@ NM_000368.4(TSC1):c.*1275T>G http://identifiers.org/clinvar/298344 ^@ NM_000195.4(HPS1):c.808G>A (p.Val270Met) http://identifiers.org/clinvar/298394 ^@ NM_004376.6(COX15):c.*1476G>A http://identifiers.org/clinvar/309476 ^@ NM_000020.2(ACVRL1):c.*1839C>T http://identifiers.org/clinvar/309576 ^@ NM_000424.3(KRT5):c.39C>T (p.Gly13=) http://identifiers.org/clinvar/309626 ^@ NM_000423.2(KRT2):c.150C>T (p.Gly50=) http://identifiers.org/clinvar/366270 ^@ NM_002451.3(MTAP):c.*1038A>G http://identifiers.org/clinvar/309876 ^@ NM_012064.3(MIP):c.*491A>C http://identifiers.org/clinvar/366470 ^@ NM_000459.4(TEK):c.*556G>A http://identifiers.org/clinvar/310076 ^@ NM_000552.4(VWF):c.2103C>T (p.Cys701=) http://identifiers.org/clinvar/302422 ^@ NM_024740.2(ALG9):c.*306G>A http://identifiers.org/clinvar/366670 ^@ NM_001497.3(B4GALT1):c.-112C>A http://identifiers.org/clinvar/310476 ^@ NM_024685.3(BBS10):c.*930A>G http://identifiers.org/clinvar/366420 ^@ NM_133497.3(KCNV2):c.1109G>C (p.Gly370Ala) http://identifiers.org/clinvar/366870 ^@ NM_016042.3(EXOSC3):c.*812T>G http://identifiers.org/clinvar/302872 ^@ NM_005188.3(CBL):c.*5811C>T http://identifiers.org/clinvar/367020 ^@ NM_001042413.1(GLIS3):c.-641C>A http://identifiers.org/clinvar/314259 ^@ NM_000428.2(LTBP2):c.*229C>T http://identifiers.org/clinvar/340447 ^@ NM_006657.2(FTCD):c.100G>A (p.Val34Met) http://identifiers.org/clinvar/314309 ^@ NM_000428.2(LTBP2):c.1531C>A (p.Pro511Thr) http://identifiers.org/clinvar/312770 ^@ NM_001145.4(ANG):c.-115G>C http://identifiers.org/clinvar/314709 ^@ NM_000369.2(TSHR):c.*474G>T http://identifiers.org/clinvar/340898 ^@ NM_004782.3(SNAP29):c.*2961T>C http://identifiers.org/clinvar/314759 ^@ NM_000153.3(GALC):c.195+15G>A http://identifiers.org/clinvar/322444 ^@ NM_003593.2(FOXN1):c.*318A>G http://identifiers.org/clinvar/314809 ^@ NM_198309.3(TTC8):c.*472A>C http://identifiers.org/clinvar/341098 ^@ NM_000268.3(NF2):c.*1007C>A http://identifiers.org/clinvar/314959 ^@ NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) http://identifiers.org/clinvar/341298 ^@ NM_012179.3(FBXO7):c.-232G>C http://identifiers.org/clinvar/341648 ^@ NM_003560.2(PLA2G6):c.266C>A (p.Ser89Tyr) http://identifiers.org/clinvar/322944 ^@ NM_000458.3(HNF1B):c.1654-6_1654-5delCT http://identifiers.org/clinvar/315359 ^@ NM_144599.4(NIPA1):c.*3462A>G http://identifiers.org/clinvar/323094 ^@ NM_002274.3(KRT13):c.735+6C>T http://identifiers.org/clinvar/315509 ^@ NM_002420.5(TRPM1):c.2475C>T (p.Asn825=) http://identifiers.org/clinvar/323194 ^@ NM_021939.3(FKBP10):c.1613T>C (p.Met538Thr) http://identifiers.org/clinvar/341948 ^@ NM_025225.2(PNPLA3):c.*19T>G http://identifiers.org/clinvar/341998 ^@ NM_018006.4(TRMU):c.-128A>G http://identifiers.org/clinvar/368059 ^@ NM_000033.3(ABCD1):c.*530G>A http://identifiers.org/clinvar/368109 ^@ NM_000132.3(F8):c.*1166A>G http://identifiers.org/clinvar/314409 ^@ NM_017791.2(FLVCR2):c.164C>T (p.Pro55Leu) http://identifiers.org/clinvar/368409 ^@ NM_007137.3(ZNF81):c.*699C>T http://identifiers.org/clinvar/314459 ^@ NM_003239.4(TGFB3):c.-536delT http://identifiers.org/clinvar/368459 ^@ NM_003179.2(SYP):c.*969G>A http://identifiers.org/clinvar/316548 ^@ NM_182758.3(WDR72):c.*1664G>T http://identifiers.org/clinvar/314659 ^@ NM_004863.3(SPTLC2):c.*288C>T http://identifiers.org/clinvar/316748 ^@ NM_001101362.2(KBTBD13):c.924C>T (p.Phe308=) http://identifiers.org/clinvar/324542 ^@ NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) http://identifiers.org/clinvar/314859 ^@ NM_006329.3(FBLN5):c.*775A>C http://identifiers.org/clinvar/316948 ^@ NM_005902.3(SMAD3):c.*2891C>A http://identifiers.org/clinvar/314909 ^@ NM_004239.4(TRIP11):c.*544C>T http://identifiers.org/clinvar/317048 ^@ NM_000520.5(HEXA):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/324842 ^@ NM_000891.2(KCNJ2):c.*624G>A http://identifiers.org/clinvar/315059 ^@ NM_177438.2(DICER1):c.*2964delG http://identifiers.org/clinvar/315109 ^@ NM_177438.2(DICER1):c.2496G>C (p.Lys832Asn) http://identifiers.org/clinvar/315309 ^@ NM_139057.3(ADAMTS17):c.789+8C>T http://identifiers.org/clinvar/317298 ^@ NM_001113378.1(FANCI):c.3816+17_3816+19delTAT http://identifiers.org/clinvar/315409 ^@ NM_144599.4(NIPA1):c.*976C>T http://identifiers.org/clinvar/317348 ^@ NM_198525.2(KIF7):c.*36C>T http://identifiers.org/clinvar/315459 ^@ NM_000275.2(OCA2):c.2432+11A>G http://identifiers.org/clinvar/317449 ^@ NM_000875.4(IGF1R):c.1686G>A (p.Val562=) http://identifiers.org/clinvar/317599 ^@ NM_000875.4(IGF1R):c.*5151T>C http://identifiers.org/clinvar/325292 ^@ NM_004035.6(ACOX1):c.*5164A>G http://identifiers.org/clinvar/315209 ^@ NM_139057.3(ADAMTS17):c.*882G>T http://identifiers.org/clinvar/325392 ^@ NM_004035.6(ACOX1):c.-62_-61dupCG http://identifiers.org/clinvar/325492 ^@ NM_001077620.2(PRCD):c.*1185A>C http://identifiers.org/clinvar/317899 ^@ NM_032520.4(GNPTG):c.*205T>C http://identifiers.org/clinvar/317949 ^@ NM_001287.5(CLCN7):c.1272G>A (p.Thr424=) http://identifiers.org/clinvar/316298 ^@ NM_000138.4(FBN1):c.*2594G>T http://identifiers.org/clinvar/316398 ^@ NM_000138.4(FBN1):c.-319G>T http://identifiers.org/clinvar/371914 ^@ NM_000059.3(BRCA2):c.8331+15A>G http://identifiers.org/clinvar/372014 ^@ NM_004360.4(CDH1):c.687+21delT http://identifiers.org/clinvar/371864 ^@ NM_007294.3(BRCA1):c.5307T>G (p.Tyr1769Ter) http://identifiers.org/clinvar/371814 ^@ NM_007294.3(BRCA1):c.-20+103G>C http://identifiers.org/clinvar/371964 ^@ NM_000546.5(TP53):c.673-37C>T http://identifiers.org/clinvar/372064 ^@ NM_001256849.1(POLD1):c.3121-14G>A http://identifiers.org/clinvar/372114 ^@ NM_032667.6(BSCL2):c.142C>T (p.Leu48Phe) http://identifiers.org/clinvar/373759 ^@ NM_001035.2(RYR2):c.5857A>C (p.Met1953Leu) http://identifiers.org/clinvar/373009 ^@ NM_003722.4(TP63):c.942_944delAGG (p.Gly315del) http://identifiers.org/clinvar/373309 ^@ NM_001148.4(ANK2):c.1876_1881+4delGCCAAGGTGAinsT http://identifiers.org/clinvar/373809 ^@ NM_006734.3(HIVEP2):c.1366_1377delATGGAACCATTA (p.Met456_Leu459del) http://identifiers.org/clinvar/373459 ^@ NM_000414.3(HSD17B4):c.397G>A (p.Ala133Thr) http://identifiers.org/clinvar/372856 ^@ NM_001193536.1(DOCK8):c.1444C>T (p.Arg482Ter) http://identifiers.org/clinvar/373359 ^@ NM_005097.3(LGI1):c.838+3A>G http://identifiers.org/clinvar/372907 ^@ NM_020822.2(KCNT1):c.1309C>T (p.Leu437Phe) http://identifiers.org/clinvar/373209 ^@ NM_024757.4(EHMT1):c.3860C>T (p.Pro1287Leu) http://identifiers.org/clinvar/373059 ^@ NM_003477.2(PDHX):c.793dupA (p.Thr265Asnfs) http://identifiers.org/clinvar/373609 ^@ NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) http://identifiers.org/clinvar/373159 ^@ NM_001519.3(BRF1):c.1581G>T (p.Lys527Asn) http://identifiers.org/clinvar/372959 ^@ NM_199242.2(UNC13D):c.919C>T (p.Gln307Ter) http://identifiers.org/clinvar/373659 ^@ NM_001127221.1(CACNA1A):c.5584C>T (p.Pro1862Ser) http://identifiers.org/clinvar/373509 ^@ NM_001127221.1(CACNA1A):c.5948G>A (p.Arg1983Gln) http://identifiers.org/clinvar/373559 ^@ NM_018896.4(CACNA1G):c.5873dupG (p.Gln1959Profs) http://identifiers.org/clinvar/373709 ^@ NM_001127221.1(CACNA1A):c.5158G>A (p.Asp1720Asn) http://identifiers.org/clinvar/373409 ^@ NM_001172673.1(CELF5):c.661_664dupCGGC (p.Arg222Profs) http://identifiers.org/clinvar/373109 ^@ NM_001456.3(FLNA):c.4599-1G>A http://identifiers.org/clinvar/373859 ^@ NG_005905.2:g.(?_92501)_(166922_168789)del http://identifiers.org/clinvar/374012 ^@ NM_182943.2(PLOD2):c.2038C>T (p.Arg680Ter) http://identifiers.org/clinvar/374062 ^@ NM_006218.3(PIK3CA):c.1059+12T>A http://identifiers.org/clinvar/374112 ^@ NM_025137.3(SPG11):c.5381T>C (p.Leu1794Pro) http://identifiers.org/clinvar/374162 ^@ NM_001040113.1(MYH11):c.4381G>C (p.Asp1461His) http://identifiers.org/clinvar/373912 ^@ NM_005220.2(DLX3):c.574dupG (p.Glu192Glyfs) http://identifiers.org/clinvar/373962 ^@ NM_030582.3(COL18A1):c.1469-2A>G http://identifiers.org/clinvar/374212 ^@ NM_001282531.2(ADNP):c.2318dupA (p.Tyr774Valfs) http://identifiers.org/clinvar/374554 ^@ NM_032446.2(MEGF10):c.1976-1G>A http://identifiers.org/clinvar/374604 ^@ NM_018706.6(DHTKD1):c.1079T>C (p.Val360Ala) http://identifiers.org/clinvar/374654 ^@ NM_006037.3(HDAC4):c.3205G>A (p.Ala1069Thr) http://identifiers.org/clinvar/374704 ^@ NM_020919.3(ALS2):c.2500A>C (p.Asn834His) http://identifiers.org/clinvar/374754 ^@ NM_002921.3(RGR):c.806A>T (p.Tyr269Phe) http://identifiers.org/clinvar/385660 ^@ NM_033109.4(PNPT1):c.404-10C>A http://identifiers.org/clinvar/392827 ^@ NM_000393.4(COL5A2):c.1303-16T>A http://identifiers.org/clinvar/390488 ^@ NM_024989.3(PGAP1):c.2286+6T>G http://identifiers.org/clinvar/393227 ^@ NM_025265.3(TSEN2):c.971C>T (p.Thr324Met) http://identifiers.org/clinvar/386360 ^@ NM_005911.5(MAT2A):c.1110T>A (p.Ile370=) http://identifiers.org/clinvar/390038 ^@ NM_004369.3(COL6A3):c.709+11C>T http://identifiers.org/clinvar/392777 ^@ NM_053025.3(MYLK):c.2462+7G>A http://identifiers.org/clinvar/378154 ^@ NM_000251.2(MSH2):c.211+8C>T http://identifiers.org/clinvar/388199 ^@ NM_001148.4(ANK2):c.1387-20C>T http://identifiers.org/clinvar/390688 ^@ NM_015340.3(LARS2):c.1124-8C>G http://identifiers.org/clinvar/378912 ^@ NM_001135659.2(NRXN1):c.3667-2A>G http://identifiers.org/clinvar/391588 ^@ NM_032682.5(FOXP1):c.1506C>G (p.Phe502Leu) http://identifiers.org/clinvar/392877 ^@ NM_025074.6(FRAS1):c.1060A>G (p.Thr354Ala) http://identifiers.org/clinvar/391088 ^@ NM_001085411.2(NADK2):c.822A>T (p.Ala274=) http://identifiers.org/clinvar/392977 ^@ NM_005670.3(EPM2A):c.152C>A (p.Ala51Asp) http://identifiers.org/clinvar/385910 ^@ NM_001101426.3(ISPD):c.1251+18C>T http://identifiers.org/clinvar/385510 ^@ NM_000535.6(PMS2):c.2445+13A>T http://identifiers.org/clinvar/391238 ^@ NM_006265.2(RAD21):c.1064C>T (p.Pro355Leu) http://identifiers.org/clinvar/390438 ^@ NM_004281.3(BAG3):c.105C>G (p.Gly35=) http://identifiers.org/clinvar/378660 ^@ NM_001130438.2(SPTAN1):c.4536C>T (p.Ile1512=) http://identifiers.org/clinvar/386260 ^@ NM_020822.2(KCNT1):c.1928G>A (p.Arg643Gln) http://identifiers.org/clinvar/133052 ^@ NM_000540.2(RYR1):c.13617C>T (p.Gly4539=) http://identifiers.org/clinvar/133102 ^@ NM_000540.2(RYR1):c.1597C>T (p.Arg533Cys) http://identifiers.org/clinvar/133152 ^@ NM_000540.2(RYR1):c.573C>T (p.Asp191=) http://identifiers.org/clinvar/133202 ^@ NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) http://identifiers.org/clinvar/133278 ^@ NM_007194.3(CHEK2):c.444+24C>T http://identifiers.org/clinvar/133344 ^@ NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del http://identifiers.org/clinvar/133394 ^@ NM_003820.3(TNFRSF14):c.304+545C>T http://identifiers.org/clinvar/133444 ^@ NM_007313.2(ABL1):c.1823G>A (p.Arg608His) http://identifiers.org/clinvar/133494 ^@ NM_152424.3(AMER1):c.1721G>A (p.Arg574Gln) http://identifiers.org/clinvar/133545 ^@ NM_015071.5(ARHGAP26):c.307C>T (p.Arg103Trp) http://identifiers.org/clinvar/133595 ^@ NM_015338.5(ASXL1):c.3306G>T (p.Glu1102Asp) http://identifiers.org/clinvar/135049 ^@ NM_000534.4(PMS1):c.2377T>C (p.Tyr793His) http://identifiers.org/clinvar/135151 ^@ NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) http://identifiers.org/clinvar/135232 ^@ NM_014159.6(SETD2):c.2824G>A (p.Gly942Arg) http://identifiers.org/clinvar/135283 ^@ NM_016169.3(SUFU):c.1045A>G (p.Ser349Gly) http://identifiers.org/clinvar/135333 ^@ NM_006290.3(TNFAIP3):c.484C>T (p.Arg162Trp) http://identifiers.org/clinvar/135383 ^@ NM_000548.4(TSC2):c.3962A>T (p.Glu1321Val) http://identifiers.org/clinvar/135434 ^@ NM_000553.4(WRN):c.3506A>G (p.Asn1169Ser) http://identifiers.org/clinvar/135484 ^@ NM_004628.4(XPC):c.1177C>T (p.Arg393Trp) http://identifiers.org/clinvar/135534 ^@ NM_005236.2(ERCC4):c.2017+1G>A http://identifiers.org/clinvar/135598 ^@ NM_002136.3(HNRNPA1):c.831G>T (p.Lys277Asn) http://identifiers.org/clinvar/135660 ^@ NM_012470.3(TNPO3):c.2771delA (p.Ter924Cysfs) http://identifiers.org/clinvar/135720 ^@ NM_000038.5(APC):c.777G>T (p.Arg259=) http://identifiers.org/clinvar/135771 ^@ NM_000051.3(ATM):c.6420C>A (p.Phe2140Leu) http://identifiers.org/clinvar/135829 ^@ NM_000179.2(MSH6):c.1449G>T (p.Val483=) http://identifiers.org/clinvar/135879 ^@ NM_000264.3(PTCH1):c.2484C>T (p.Asn828=) http://identifiers.org/clinvar/135929 ^@ NM_000455.4(STK11):c.945G>A (p.Pro315=) http://identifiers.org/clinvar/135980 ^@ NM_001128425.1(MUTYH):c.1091G>A (p.Arg364His) http://identifiers.org/clinvar/136031 ^@ NM_002354.2(EPCAM):c.815T>C (p.Ile272Thr) http://identifiers.org/clinvar/136082 ^@ NM_007294.3(BRCA1):c.2506delG (p.Glu836Lysfs) http://identifiers.org/clinvar/136132 ^@ NM_024675.3(PALB2):c.2167_2168delAT (p.Met723Valfs) http://identifiers.org/clinvar/136192 ^@ NM_130838.1(UBE3A):c.312_315delCTTA (p.Tyr104Terfs) http://identifiers.org/clinvar/136243 ^@ NM_004299.4(ABCB7):c.941G>A (p.Arg314Gln) http://identifiers.org/clinvar/136294 ^@ NM_020247.4(COQ8A):c.63G>A (p.Ala21=) http://identifiers.org/clinvar/136345 ^@ NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val) http://identifiers.org/clinvar/136396 ^@ NM_001148.4(ANK2):c.11032+19A>G http://identifiers.org/clinvar/185634 ^@ NM_001042492.2(NF1):c.8517G>A (p.Val2839=) http://identifiers.org/clinvar/185934 ^@ NM_007294.3(BRCA1):c.4865C>G (p.Thr1622Ser) http://identifiers.org/clinvar/184245 ^@ NM_007294.3(BRCA1):c.4644G>A (p.Thr1548=) http://identifiers.org/clinvar/184695 ^@ NM_007294.3(BRCA1):c.3060A>G (p.Pro1020=) http://identifiers.org/clinvar/183944 ^@ NM_058216.2(RAD51C):c.696A>G (p.Glu232=) http://identifiers.org/clinvar/184195 ^@ NM_032043.2(BRIP1):c.912G>A (p.Gly304=) http://identifiers.org/clinvar/184395 ^@ NM_032043.2(BRIP1):c.249A>G (p.Gln83=) http://identifiers.org/clinvar/184745 ^@ NM_000546.5(TP53):c.997C>T (p.Arg333Cys) http://identifiers.org/clinvar/187675 ^@ NM_000546.5(TP53):c.201A>G (p.Pro67=) http://identifiers.org/clinvar/185834 ^@ NM_000546.5(TP53):c.180A>C (p.Pro60=) http://identifiers.org/clinvar/184045 ^@ NM_000455.4(STK11):c.1266C>T (p.Ser422=) http://identifiers.org/clinvar/186434 ^@ NM_007194.3(CHEK2):c.1081G>T (p.Asp361Tyr) http://identifiers.org/clinvar/185534 ^@ NM_007194.3(CHEK2):c.909G>C (p.Leu303Phe) http://identifiers.org/clinvar/183844 ^@ NM_007194.3(CHEK2):c.474A>G (p.Ala158=) http://identifiers.org/clinvar/188370 ^@ NM_002354.2(EPCAM):c.161A>G (p.Gln54Arg) http://identifiers.org/clinvar/188160 ^@ NM_000251.2(MSH2):c.67T>C (p.Phe23Leu) http://identifiers.org/clinvar/188211 ^@ NM_000038.5(APC):c.5692A>G (p.Thr1898Ala) http://identifiers.org/clinvar/188265 ^@ NM_130799.2(MEN1):c.1535C>T (p.Ser512Leu) http://identifiers.org/clinvar/188317 ^@ NM_058216.2(RAD51C):c.492T>G (p.Phe164Leu) http://identifiers.org/clinvar/188678 ^@ NM_001001430.2(TNNT2):c.42-20G>A http://identifiers.org/clinvar/188578 ^@ NM_000256.3(MYBPC3):c.3191-21A>G http://identifiers.org/clinvar/188528 ^@ NM_000256.3(MYBPC3):c.541_542dupGC (p.Ser182Profs) http://identifiers.org/clinvar/188428 ^@ NM_000059.3(BRCA2):c.4898T>C (p.Ile1633Thr) http://identifiers.org/clinvar/188628 ^@ NM_000257.3(MYH7):c.3770A>G (p.Asn1257Ser) http://identifiers.org/clinvar/188478 ^@ NM_000152.4(GAA):c.915G>A (p.Gly305=) http://identifiers.org/clinvar/189080 ^@ NM_000642.2(AGL):c.1384delG (p.Val462Terfs) http://identifiers.org/clinvar/188979 ^@ NM_000030.2(AGXT):c.653C>T (p.Ser218Leu) http://identifiers.org/clinvar/188828 ^@ NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) http://identifiers.org/clinvar/189130 ^@ NM_005609.3(PYGM):c.407delG (p.Gly136Alafs) http://identifiers.org/clinvar/188778 ^@ NM_005609.3(PYGM):c.78_79delTG (p.Glu27Alafs) http://identifiers.org/clinvar/188879 ^@ NM_000053.3(ATP7B):c.2519C>T (p.Pro840Leu) http://identifiers.org/clinvar/188929 ^@ NM_000520.5(HEXA):c.986+3A>G http://identifiers.org/clinvar/189180 ^@ NM_000520.5(HEXA):c.570+1G>A http://identifiers.org/clinvar/188728 ^@ NM_000152.4(GAA):c.1933G>A (p.Asp645Asn) http://identifiers.org/clinvar/189030 ^@ NM_000159.3(GCDH):c.271+1G>A http://identifiers.org/clinvar/189247 ^@ NM_024809.4(TCTN2):c.1877T>A (p.Leu626Ter) http://identifiers.org/clinvar/189299 ^@ NM_000384.2(APOB):c.10037G>T (p.Ser3346Ile) http://identifiers.org/clinvar/189365 ^@ NM_004990.3(MARS):c.1814A>T (p.Asp605Val) http://identifiers.org/clinvar/189448 ^@ NM_000314.6(PTEN):c.491delA (p.Lys164Argfs) http://identifiers.org/clinvar/189620 ^@ NM_005249.4(FOXG1):c.730C>T (p.Arg244Cys) http://identifiers.org/clinvar/189670 ^@ NM_004992.3(MECP2):c.1271_1416del146 (p.Leu424Argfs) http://identifiers.org/clinvar/189570 ^@ NM_003159.2(CDKL5):c.2105_2106delAC (p.His702Profs) http://identifiers.org/clinvar/190451 ^@ NM_002642.3(PIGC):c.659T>C (p.Leu220Pro) http://identifiers.org/clinvar/228995 ^@ NM_004999.3(MYO6):c.3529C>T (p.Arg1177Cys) http://identifiers.org/clinvar/226513 ^@ NM_000739.2(CHRM2):c.1050A>G (p.Ser350=) http://identifiers.org/clinvar/226613 ^@ NM_058246.3(DNAJB6):c.899-6C>T http://identifiers.org/clinvar/228695 ^@ NM_021167.4(GATAD1):c.376-13dupT http://identifiers.org/clinvar/229195 ^@ NM_001134363.2(RBM20):c.3500G>T (p.Gly1167Val) http://identifiers.org/clinvar/229045 ^@ NM_006393.2(NEBL):c.258+1G>A http://identifiers.org/clinvar/229245 ^@ NM_005411.4(SFTPA1):c.646C>G (p.Pro216Ala) http://identifiers.org/clinvar/229295 ^@ NM_005422.2(TECTA):c.2638A>G (p.Thr880Ala) http://identifiers.org/clinvar/229095 ^@ NM_001277269.1(OTOG):c.4624C>G (p.Leu1542Val) http://identifiers.org/clinvar/229145 ^@ NM_004572.3(PKP2):c.1742G>A (p.Gly581Glu) http://identifiers.org/clinvar/228745 ^@ NM_006644.3(HSPH1):c.754T>C (p.Tyr252His) http://identifiers.org/clinvar/228895 ^@ NM_002471.3(MYH6):c.4828C>T (p.Arg1610Cys) http://identifiers.org/clinvar/227454 ^@ NM_001130089.1(KARS):c.696A>G (p.Thr232=) http://identifiers.org/clinvar/228945 ^@ NM_016239.3(MYO15A):c.269T>C (p.Met90Thr) http://identifiers.org/clinvar/226463 ^@ NM_212550.4(BLOC1S3):c.144C>A (p.Arg48=) http://identifiers.org/clinvar/227254 ^@ NM_006012.2(CLPP):c.306G>A (p.Gln102=) http://identifiers.org/clinvar/227354 ^@ NM_000117.2(EMD):c.57C>T (p.Tyr19=) http://identifiers.org/clinvar/234289 ^@ NM_004895.4(NLRP3):c.1339C>T (p.Leu447Phe) http://identifiers.org/clinvar/234663 ^@ NM_004321.7(KIF1A):c.3728C>T (p.Ala1243Val) http://identifiers.org/clinvar/234864 ^@ NM_000179.2(MSH6):c.1729C>G (p.Arg577Gly) http://identifiers.org/clinvar/234763 ^@ NM_000249.3(MLH1):c.1698T>A (p.Tyr566Ter) http://identifiers.org/clinvar/234563 ^@ NM_000249.3(MLH1):c.2024G>A (p.Ser675Asn) http://identifiers.org/clinvar/234914 ^@ NM_000535.6(PMS2):c.1430C>A (p.Ser477Tyr) http://identifiers.org/clinvar/234813 ^@ NM_000535.6(PMS2):c.675A>C (p.Glu225Asp) http://identifiers.org/clinvar/234512 ^@ NM_000136.2(FANCC):c.1561G>A (p.Glu521Lys) http://identifiers.org/clinvar/234409 ^@ NM_000314.6(PTEN):c.47dupA (p.Tyr16Terfs) http://identifiers.org/clinvar/234713 ^@ NM_000257.3(MYH7):c.5364_5366delGAC (p.Gln1788_Thr1789delinsHis) http://identifiers.org/clinvar/234613 ^@ NM_004360.4(CDH1):c.2164+2T>C http://identifiers.org/clinvar/234341 ^@ NM_014646.2(LPIN2):c.2171A>G (p.Asn724Ser) http://identifiers.org/clinvar/234461 ^@ NM_001130823.2(DNMT1):c.406C>T (p.Arg136Cys) http://identifiers.org/clinvar/233376 ^@ NM_007194.3(CHEK2):c.1277C>A (p.Pro426His) http://identifiers.org/clinvar/233326 ^@ NM_001128425.1(MUTYH):c.1311G>A (p.Arg437=) http://identifiers.org/clinvar/234229 ^@ NM_001128425.1(MUTYH):c.389-1G>C http://identifiers.org/clinvar/231736 ^@ NM_000465.3(BARD1):c.2333G>A (p.Ter778=) http://identifiers.org/clinvar/230147 ^@ NM_000179.2(MSH6):c.185G>T (p.Arg62Leu) http://identifiers.org/clinvar/231236 ^@ NM_000179.2(MSH6):c.2668G>T (p.Val890Phe) http://identifiers.org/clinvar/231386 ^@ NM_000179.2(MSH6):c.2775A>G (p.Gly925=) http://identifiers.org/clinvar/229797 ^@ NM_000249.3(MLH1):c.-280A>G http://identifiers.org/clinvar/231936 ^@ NM_000249.3(MLH1):c.778C>G (p.Leu260Val) http://identifiers.org/clinvar/231136 ^@ NM_000038.5(APC):c.280C>G (p.Arg94Gly) http://identifiers.org/clinvar/232286 ^@ NM_000038.5(APC):c.947A>G (p.Tyr316Cys) http://identifiers.org/clinvar/231286 ^@ NM_000038.5(APC):c.2091A>G (p.Ala697=) http://identifiers.org/clinvar/234179 ^@ NM_000038.5(APC):c.3021A>G (p.Lys1007=) http://identifiers.org/clinvar/263419 ^@ NM_002474.2(MYH11):c.5511A>G (p.Lys1837=) http://identifiers.org/clinvar/263369 ^@ NM_006440.4(TXNRD2):c.1109T>C (p.Ile370Thr) http://identifiers.org/clinvar/264686 ^@ NM_004082.4(DCTN1):c.167A>G (p.Lys56Arg) http://identifiers.org/clinvar/264743 ^@ NM_001242896.1(DEPDC5):c.4033+5A>G http://identifiers.org/clinvar/264948 ^@ NM_000059.3(BRCA2):c.682-559G>A http://identifiers.org/clinvar/264898 ^@ NM_000059.3(BRCA2):c.6841+1599C>T http://identifiers.org/clinvar/264848 ^@ NM_007294.3(BRCA1):c.4675+1455dup http://identifiers.org/clinvar/264798 ^@ NM_007294.3(BRCA1):c.134+3001_134+3002del http://identifiers.org/clinvar/267069 ^@ NM_000059.3(BRCA2):c.831dupT (p.Ser278Terfs) http://identifiers.org/clinvar/267169 ^@ NM_000059.3(BRCA2):c.970_973delAGAA (p.Arg324Leufs) http://identifiers.org/clinvar/266619 ^@ NM_000059.3(BRCA2):c.1249delT (p.Ser417Leufs) http://identifiers.org/clinvar/266669 ^@ NM_000059.3(BRCA2):c.1923_1924insAT (p.Ser642Ilefs) http://identifiers.org/clinvar/266719 ^@ NM_000059.3(BRCA2):c.2758_2759insATGG (p.Pro920Hisfs) http://identifiers.org/clinvar/266769 ^@ NM_000059.3(BRCA2):c.3728dupA (p.Asp1243Glufs) http://identifiers.org/clinvar/266819 ^@ NM_000059.3(BRCA2):c.4530delC (p.Glu1511Asnfs) http://identifiers.org/clinvar/266869 ^@ NM_000059.3(BRCA2):c.5298delT (p.Asn1766Lysfs) http://identifiers.org/clinvar/266919 ^@ NM_000059.3(BRCA2):c.6067_6076delGACCAGCTCA (p.Asp2023Glnfs) http://identifiers.org/clinvar/266969 ^@ NM_000059.3(BRCA2):c.6645_6648delCTCC (p.Tyr2215Terfs) http://identifiers.org/clinvar/267019 ^@ NM_000059.3(BRCA2):c.7530_7531delGT (p.Tyr2511Serfs) http://identifiers.org/clinvar/267119 ^@ NM_000059.3(BRCA2):c.8941_8942delGA (p.Glu2981Lysfs) http://identifiers.org/clinvar/266519 ^@ NM_007294.3(BRCA1):c.5044_5048delGAAGAinsT (p.Glu1682Terfs) http://identifiers.org/clinvar/266569 ^@ NM_007294.3(BRCA1):c.69dupG (p.Cys24Valfs) http://identifiers.org/clinvar/267239 ^@ NM_015247.2(CYLD):c.1684+3A>C http://identifiers.org/clinvar/267308 ^@ NM_004937.2(CTNS):c.544T>C (p.Trp182Arg) http://identifiers.org/clinvar/267387 ^@ c.3576G>A http://identifiers.org/clinvar/267440 ^@ NM_017780.3(CHD7):c.8962dupG (p.Asp2988Glyfs) http://identifiers.org/clinvar/267676 ^@ NM_000059.3(BRCA2):c.7008-1G>T http://identifiers.org/clinvar/267526 ^@ NM_007294.3(BRCA1):c.4186-?_4357+?del http://identifiers.org/clinvar/267626 ^@ NM_007294.3(BRCA1):c.81-?_547+?dup http://identifiers.org/clinvar/267576 ^@ NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln) http://identifiers.org/clinvar/267726 ^@ NM_018328.4(MBD5):c.440C>G (p.Ser147Ter) http://identifiers.org/clinvar/267805 ^@ 46;XY;t(7;12)(q21.13;q24)dn http://identifiers.org/clinvar/267856 ^@ 46;XY;t(7;15)(q21;q26)dn http://identifiers.org/clinvar/267906 ^@ 46;XY;t(1;12)(p32;p13)dn http://identifiers.org/clinvar/267956 ^@ 46;XY;t;(3;18)(q13.3;q21.3)dn http://identifiers.org/clinvar/280218 ^@ NM_002016.1(FLG):c.7487delC (p.Thr2496Asnfs) http://identifiers.org/clinvar/290898 ^@ NM_138694.3(PKHD1):c.7533A>G (p.Ser2511=) http://identifiers.org/clinvar/290948 ^@ NM_014425.4(INVS):c.3016+5C>T http://identifiers.org/clinvar/290998 ^@ NM_012210.3(TRIM32):c.1727G>A (p.Arg576His) http://identifiers.org/clinvar/291048 ^@ NM_015384.4(NIPBL):c.6065A>G (p.Lys2022Arg) http://identifiers.org/clinvar/291098 ^@ NM_018849.2(ABCB4):c.303G>A (p.Ser101=) http://identifiers.org/clinvar/291249 ^@ NM_000466.2(PEX1):c.939T>C (p.His313=) http://identifiers.org/clinvar/291414 ^@ NM_001918.3(DBT):c.*4321G>T http://identifiers.org/clinvar/291464 ^@ NM_015074.3(KIF1B):c.107-8T>A http://identifiers.org/clinvar/291514 ^@ NM_001854.3(COL11A1):c.3729G>A (p.Gly1243=) http://identifiers.org/clinvar/291564 ^@ NM_015074.3(KIF1B):c.2847C>T (p.Ile949=) http://identifiers.org/clinvar/291806 ^@ NM_006610.3(MASP2):c.383C>T (p.Thr128Met) http://identifiers.org/clinvar/291756 ^@ NM_007375.3(TARDBP):c.*1623T>A http://identifiers.org/clinvar/291956 ^@ NM_002524.4(NRAS):c.*2546C>T http://identifiers.org/clinvar/292156 ^@ NM_005957.4(MTHFR):c.*4505C>T http://identifiers.org/clinvar/292306 ^@ NM_006623.3(PHGDH):c.139-13T>C http://identifiers.org/clinvar/291856 ^@ NM_013319.2(UBIAD1):c.740C>T (p.Thr247Met) http://identifiers.org/clinvar/292356 ^@ NM_000302.3(PLOD1):c.*276T>C http://identifiers.org/clinvar/291906 ^@ NM_013319.2(UBIAD1):c.*1779C>T http://identifiers.org/clinvar/292456 ^@ NM_005266.6(GJA5):c.-61A>G http://identifiers.org/clinvar/292206 ^@ NM_005957.4(MTHFR):c.*1422G>A http://identifiers.org/clinvar/292556 ^@ NM_019032.5(ADAMTSL4):c.2580G>A (p.Thr860=) http://identifiers.org/clinvar/292606 ^@ NM_000449.3(RFX5):c.*244A>G http://identifiers.org/clinvar/292006 ^@ NM_138959.2(VANGL1):c.572T>C (p.Val191Ala) http://identifiers.org/clinvar/292106 ^@ NM_138959.2(VANGL1):c.*6212C>T http://identifiers.org/clinvar/292806 ^@ NM_000298.5(PKLR):c.1468C>T (p.Arg490Trp) http://identifiers.org/clinvar/292956 ^@ NM_003126.2(SPTA1):c.6132G>C (p.Leu2044=) http://identifiers.org/clinvar/293056 ^@ NM_003126.2(SPTA1):c.243T>C (p.Tyr81=) http://identifiers.org/clinvar/293106 ^@ NM_002241.4(KCNJ10):c.*1161T>C http://identifiers.org/clinvar/292256 ^@ NM_000198.3(HSD3B2):c.222C>T (p.Asp74=) http://identifiers.org/clinvar/292856 ^@ NM_022367.3(SEMA4A):c.2167C>A (p.Arg723Ser) http://identifiers.org/clinvar/293306 ^@ NM_000530.7(MPZ):c.*681A>T http://identifiers.org/clinvar/292406 ^@ NM_014874.3(MFN2):c.*1539G>A http://identifiers.org/clinvar/292506 ^@ NM_004698.2(PRPF3):c.1923G>A (p.Arg641=) http://identifiers.org/clinvar/293356 ^@ NM_003001.3(SDHC):c.*1731G>A http://identifiers.org/clinvar/292706 ^@ NM_006118.3(HAX1):c.574T>C (p.Ser192Pro) http://identifiers.org/clinvar/292906 ^@ NM_007272.2(CTRC):c.68C>T (p.Pro23Leu) http://identifiers.org/clinvar/292656 ^@ NM_152263.3(TPM3):c.*2774G>C http://identifiers.org/clinvar/293506 ^@ NM_006996.2(SLC19A2):c.*1905_*1908delAATA http://identifiers.org/clinvar/292756 ^@ NM_001111.4(ADAR):c.*60G>A http://identifiers.org/clinvar/293006 ^@ NM_003126.2(SPTA1):c.2822A>G (p.His941Arg) http://identifiers.org/clinvar/293406 ^@ NM_004431.4(EPHA2):c.2904G>C (p.Gln968His) http://identifiers.org/clinvar/293456 ^@ NM_005149.2(TBX19):c.204-3T>C http://identifiers.org/clinvar/335911 ^@ NM_000104.3(CYP1B1):c.*2371T>C http://identifiers.org/clinvar/336011 ^@ NM_005633.3(SOS1):c.*328A>G http://identifiers.org/clinvar/336468 ^@ NM_000233.3(LHCGR):c.378A>C (p.Lys126Asn) http://identifiers.org/clinvar/336261 ^@ NM_001430.4(EPAS1):c.1121T>A (p.Phe374Tyr) http://identifiers.org/clinvar/336361 ^@ NM_139279.5(MCFD2):c.*1158C>A http://identifiers.org/clinvar/336768 ^@ NM_015910.5(WDPCP):c.254C>T (p.Ser85Leu) http://identifiers.org/clinvar/336818 ^@ NM_002056.3(GFPT1):c.*3285A>G http://identifiers.org/clinvar/345297 ^@ NM_182760.3(SUMF1):c.*578C>G http://identifiers.org/clinvar/336918 ^@ NM_001692.3(ATP6V1B1):c.119-10C>T http://identifiers.org/clinvar/336568 ^@ NM_001135659.2(NRXN1):c.-557C>T http://identifiers.org/clinvar/336718 ^@ NM_032180.2(FAM161A):c.*1129A>C http://identifiers.org/clinvar/336868 ^@ NM_002056.3(GFPT1):c.*169C>T http://identifiers.org/clinvar/337218 ^@ NM_000821.6(GGCX):c.*2304T>C http://identifiers.org/clinvar/337418 ^@ NM_004836.6(EIF2AK3):c.1092T>A (p.Asn364Lys) http://identifiers.org/clinvar/337268 ^@ NM_000821.6(GGCX):c.974G>A (p.Arg325Gln) http://identifiers.org/clinvar/337318 ^@ NM_003896.3(ST3GAL5):c.*950G>A http://identifiers.org/clinvar/337468 ^@ NM_017849.3(TMEM127):c.*2121G>T http://identifiers.org/clinvar/346836 ^@ NM_000306.3(POU1F1):c.*139T>A http://identifiers.org/clinvar/347436 ^@ NM_018699.3(PRDM5):c.1283-5C>T http://identifiers.org/clinvar/347586 ^@ NM_031296.2(RAB33B):c.*1819A>G http://identifiers.org/clinvar/347636 ^@ NM_172250.2(MMAA):c.*1952T>C http://identifiers.org/clinvar/346336 ^@ NM_001457.3(FLNB):c.3724+13_3724+15delTAA http://identifiers.org/clinvar/347786 ^@ NM_005141.4(FGB):c.*592G>A http://identifiers.org/clinvar/347836 ^@ NM_001080522.2(CC2D2A):c.2339-10_2339-9delGT http://identifiers.org/clinvar/347936 ^@ NM_000824.4(GLRB):c.*454A>G http://identifiers.org/clinvar/348036 ^@ NM_001166108.1(PALLD):c.1274C>A (p.Thr425Asn) http://identifiers.org/clinvar/358203 ^@ NM_183050.3(BCKDHB):c.*1315G>A http://identifiers.org/clinvar/353703 ^@ NM_000163.4(GHR):c.*941A>G http://identifiers.org/clinvar/353853 ^@ NM_002203.3(ITGA2):c.*3414A>C http://identifiers.org/clinvar/362191 ^@ NM_000498.3(CYP11B2):c.*81G>A http://identifiers.org/clinvar/362241 ^@ NM_130849.3(SLC39A4):c.1114C>G (p.Leu372Val) http://identifiers.org/clinvar/353953 ^@ NM_001104631.1(PDE4D):c.*2003T>C http://identifiers.org/clinvar/362441 ^@ NM_000237.2(LPL):c.*1250A>G http://identifiers.org/clinvar/362491 ^@ NM_005144.4(HR):c.2566C>G (p.Arg856Gly) http://identifiers.org/clinvar/362541 ^@ NM_005144.4(HR):c.-568_-567insCCGCCGCGCTCTCCGCCGCGCTCT http://identifiers.org/clinvar/362591 ^@ NM_006129.4(BMP1):c.2115C>T (p.Asp705=) http://identifiers.org/clinvar/362641 ^@ NM_006158.4(NEFL):c.*235A>T http://identifiers.org/clinvar/362841 ^@ NM_000349.2(STAR):c.*116T>G http://identifiers.org/clinvar/359142 ^@ NM_001080413.3(NOBOX):c.1354G>A (p.Asp452Asn) http://identifiers.org/clinvar/359192 ^@ NM_014141.5(CNTNAP2):c.3063A>C (p.Ala1021=) http://identifiers.org/clinvar/359392 ^@ NM_022458.3(LMBR1):c.*1922A>G http://identifiers.org/clinvar/359542 ^@ NM_001101426.3(ISPD):c.*2197G>C http://identifiers.org/clinvar/363830 ^@ NM_000067.2(CA2):c.-130C>A http://identifiers.org/clinvar/359842 ^@ NM_004403.2(DFNA5):c.1156G>A (p.Ala386Thr) http://identifiers.org/clinvar/359892 ^@ NM_018947.5(CYCS):c.*3319C>T http://identifiers.org/clinvar/360092 ^@ NM_133468.4(BMPER):c.-141+4A>G http://identifiers.org/clinvar/360342 ^@ NM_014855.2(AP5Z1):c.1953C>T (p.Gly651=) http://identifiers.org/clinvar/360592 ^@ NM_153033.4(KCTD7):c.*354C>G http://identifiers.org/clinvar/364780 ^@ NM_018249.5(CDK5RAP2):c.817G>A (p.Glu273Lys) http://identifiers.org/clinvar/364880 ^@ NM_002316.3(LMX1B):c.628G>A (p.Gly210Arg) http://identifiers.org/clinvar/364930 ^@ NM_002316.3(LMX1B):c.*1511G>A http://identifiers.org/clinvar/360792 ^@ NM_000443.3(ABCB4):c.3231G>A (p.Thr1077=) http://identifiers.org/clinvar/365130 ^@ NM_001003722.1(GLE1):c.-45T>C http://identifiers.org/clinvar/365180 ^@ NM_001130438.2(SPTAN1):c.6959+6C>T http://identifiers.org/clinvar/365230 ^@ NM_000113.2(TOR1A):c.*165G>A http://identifiers.org/clinvar/365380 ^@ NM_015046.5(SETX):c.32G>A (p.Gly11Asp) http://identifiers.org/clinvar/365580 ^@ NM_014694.3(ADAMTSL2):c.763+7A>G http://identifiers.org/clinvar/357003 ^@ NM_006502.2(POLH):c.*4806delT http://identifiers.org/clinvar/361691 ^@ NM_002546.3(TNFRSF11B):c.699C>A (p.Asn233Lys) http://identifiers.org/clinvar/357053 ^@ NM_020745.3(AARS2):c.*256A>G http://identifiers.org/clinvar/357103 ^@ NM_001024630.3(RUNX2):c.*599T>G http://identifiers.org/clinvar/361841 ^@ NM_004519.3(KCNQ3):c.*2266_*2269delCTTT http://identifiers.org/clinvar/366720 ^@ NM_007126.3(VCP):c.185A>G (p.Lys62Arg) http://identifiers.org/clinvar/367270 ^@ NM_017662.4(TRPM6):c.*1914A>C http://identifiers.org/clinvar/311570 ^@ NM_014363.5(SACS):c.944A>G (p.Asp315Gly) http://identifiers.org/clinvar/366920 ^@ NM_001042413.1(GLIS3):c.*2185G>A http://identifiers.org/clinvar/303522 ^@ NM_016952.4(CDON):c.350-9A>G http://identifiers.org/clinvar/303822 ^@ NM_001909.4(CTSD):c.*597A>C http://identifiers.org/clinvar/311870 ^@ NM_001127217.2(SMAD9):c.*850C>T http://identifiers.org/clinvar/312020 ^@ NM_207361.5(FREM2):c.7800C>T (p.Thr2600=) http://identifiers.org/clinvar/303922 ^@ NM_005566.3(LDHA):c.*501C>A http://identifiers.org/clinvar/298494 ^@ NM_021830.4(TWNK):c.76G>A (p.Gly26Ser) http://identifiers.org/clinvar/298594 ^@ NM_016169.3(SUFU):c.*1715A>G http://identifiers.org/clinvar/298694 ^@ NM_000494.3(COL17A1):c.3549G>A (p.Pro1183=) http://identifiers.org/clinvar/298744 ^@ NM_000494.3(COL17A1):c.681G>C (p.Ala227=) http://identifiers.org/clinvar/312520 ^@ NM_052910.2(SLITRK1):c.-584T>G http://identifiers.org/clinvar/298794 ^@ NM_001134363.2(RBM20):c.1276-8T>A http://identifiers.org/clinvar/298844 ^@ NM_001134363.2(RBM20):c.*2443C>G http://identifiers.org/clinvar/312720 ^@ NM_022489.3(INF2):c.*437G>A http://identifiers.org/clinvar/298544 ^@ NM_022039.3(FBXW4):c.-57A>G http://identifiers.org/clinvar/298894 ^@ NM_004132.4(HABP2):c.-3A>G http://identifiers.org/clinvar/299344 ^@ NM_001081.3(CUBN):c.*281A>G http://identifiers.org/clinvar/305061 ^@ NM_016464.4(TMEM138):c.128+15G>A http://identifiers.org/clinvar/305113 ^@ NM_004183.3(BEST1):c.-221T>C http://identifiers.org/clinvar/305213 ^@ NM_144585.3(SLC22A12):c.-718C>T http://identifiers.org/clinvar/299194 ^@ NM_000375.2(UROS):c.27G>A (p.Ala9=) http://identifiers.org/clinvar/305263 ^@ NM_005609.3(PYGM):c.2450C>A (p.Thr817Asn) http://identifiers.org/clinvar/299294 ^@ NM_001033855.2(DCLRE1C):c.*555A>G http://identifiers.org/clinvar/314359 ^@ NM_001040108.1(MLH3):c.*1376C>T http://identifiers.org/clinvar/314559 ^@ NM_013382.5(POMT2):c.924-6C>T http://identifiers.org/clinvar/305563 ^@ NM_006946.2(SPTBN2):c.3686A>G (p.His1229Arg) http://identifiers.org/clinvar/314609 ^@ NM_004863.3(SPTLC2):c.*3396A>G http://identifiers.org/clinvar/315009 ^@ NM_000295.4(SERPINA1):c.*854T>C http://identifiers.org/clinvar/300333 ^@ NM_001083116.1(PRF1):c.434T>C (p.Val145Ala) http://identifiers.org/clinvar/300233 ^@ NM_000417.2(IL2RA):c.*1008G>A http://identifiers.org/clinvar/329371 ^@ NM_000709.3(BCKDHA):c.*68G>A http://identifiers.org/clinvar/329421 ^@ NM_152296.4(ATP1A3):c.1011C>T (p.Thr337=) http://identifiers.org/clinvar/329471 ^@ NM_212550.4(BLOC1S3):c.6G>T (p.Ala2=) http://identifiers.org/clinvar/329671 ^@ NM_025136.3(OPA3):c.*638T>A http://identifiers.org/clinvar/329721 ^@ NM_000554.5(CRX):c.*746T>C http://identifiers.org/clinvar/311470 ^@ NM_002010.2(FGF9):c.*2563G>C http://identifiers.org/clinvar/311520 ^@ NM_014363.5(SACS):c.8056C>T (p.Leu2686=) http://identifiers.org/clinvar/330021 ^@ NM_144687.3(NLRP12):c.2438C>T (p.Ser813Phe) http://identifiers.org/clinvar/311720 ^@ NM_004795.3(KL):c.*771C>T http://identifiers.org/clinvar/311770 ^@ NM_015087.4(SPG20):c.627G>A (p.Pro209=) http://identifiers.org/clinvar/311820 ^@ NM_001127217.2(SMAD9):c.*3564C>T http://identifiers.org/clinvar/310426 ^@ NM_001131025.1(PEX5):c.1522G>A (p.Val508Met) http://identifiers.org/clinvar/330321 ^@ NM_000064.3(C3):c.1692G>A (p.Val564=) http://identifiers.org/clinvar/311970 ^@ NM_207361.5(FREM2):c.3983T>C (p.Met1328Thr) http://identifiers.org/clinvar/310831 ^@ NM_018979.3(WNK1):c.4605_4607delCAG (p.Ser1536del) http://identifiers.org/clinvar/318940 ^@ NM_000294.2(PHKG2):c.556+5G>T http://identifiers.org/clinvar/312220 ^@ NM_003701.3(TNFSF11):c.-144G>C http://identifiers.org/clinvar/312320 ^@ NM_000321.2(RB1):c.*1687T>C http://identifiers.org/clinvar/310781 ^@ NM_003276.2(TMPO):c.*427T>C http://identifiers.org/clinvar/312470 ^@ NM_000115.4(EDNRB):c.1139G>C (p.Cys380Ser) http://identifiers.org/clinvar/312570 ^@ NM_005708.4(GPC6):c.*1026T>G http://identifiers.org/clinvar/312620 ^@ NM_001376.4(DYNC1H1):c.1704T>C (p.Leu568=) http://identifiers.org/clinvar/312670 ^@ NM_001376.4(DYNC1H1):c.*190A>G http://identifiers.org/clinvar/338357 ^@ NM_153638.3(PANK2):c.54A>G (p.Ser18=) http://identifiers.org/clinvar/312820 ^@ NM_001126106.2(SLC7A7):c.931A>G (p.Ile311Val) http://identifiers.org/clinvar/338507 ^@ NM_000022.3(ADA):c.679-8C>T http://identifiers.org/clinvar/338607 ^@ NM_030777.3(SLC2A10):c.*280C>T http://identifiers.org/clinvar/338707 ^@ NM_006420.2(ARFGEF2):c.5117G>A (p.Arg1706Gln) http://identifiers.org/clinvar/311620 ^@ NM_018451.4(CENPJ):c.2111C>T (p.Thr704Ile) http://identifiers.org/clinvar/311670 ^@ NM_000059.3(BRCA2):c.*399T>C http://identifiers.org/clinvar/338908 ^@ NM_002591.3(PCK1):c.*392_*393delTG http://identifiers.org/clinvar/339208 ^@ NM_017671.4(FERMT1):c.1795A>C (p.Ile599Leu) http://identifiers.org/clinvar/339258 ^@ NM_017671.4(FERMT1):c.-655C>T http://identifiers.org/clinvar/311920 ^@ NM_001127217.2(SMAD9):c.-264_-259delCGCCGC http://identifiers.org/clinvar/339358 ^@ NM_025219.2(DNAJC5):c.444C>T (p.Phe148=) http://identifiers.org/clinvar/312070 ^@ NM_207361.5(FREM2):c.*2390_*2392delAGA http://identifiers.org/clinvar/312170 ^@ NM_014252.3(SLC25A15):c.-259G>C http://identifiers.org/clinvar/312270 ^@ NM_003850.2(SUCLA2):c.373C>T (p.Pro125Ser) http://identifiers.org/clinvar/342198 ^@ NM_000487.5(ARSA):c.*1522C>A http://identifiers.org/clinvar/328432 ^@ NM_173483.3(CYP4F22):c.659G>C (p.Ser220Thr) http://identifiers.org/clinvar/368209 ^@ NM_004006.2(DMD):c.*1588_*1591dupTGTT http://identifiers.org/clinvar/368259 ^@ NM_000531.5(OTC):c.621C>T (p.Ser207=) http://identifiers.org/clinvar/368309 ^@ NM_006915.2(RP2):c.*243_*246delGTTT http://identifiers.org/clinvar/368559 ^@ NM_006306.3(SMC1A):c.*3807G>A http://identifiers.org/clinvar/368609 ^@ NM_013444.3(UBQLN2):c.1383G>A (p.Gly461=) http://identifiers.org/clinvar/368709 ^@ NM_153252.4(BRWD3):c.*2594T>C http://identifiers.org/clinvar/329971 ^@ NM_030657.3(LIM2):c.463G>A (p.Val155Met) http://identifiers.org/clinvar/328082 ^@ NM_000527.4(LDLR):c.*1131G>T http://identifiers.org/clinvar/330071 ^@ NM_002739.4(PRKCG):c.1962G>C (p.Leu654=) http://identifiers.org/clinvar/330121 ^@ NM_024075.4(TSEN34):c.-41G>A http://identifiers.org/clinvar/330171 ^@ NM_206828.3(NLRP7):c.1168C>T (p.Arg390Cys) http://identifiers.org/clinvar/328332 ^@ NM_000159.3(GCDH):c.1083-10C>T http://identifiers.org/clinvar/328482 ^@ NM_000215.3(JAK3):c.*841_*842dupTT http://identifiers.org/clinvar/330471 ^@ NM_000208.3(INSR):c.1628C>T (p.Thr543Met) http://identifiers.org/clinvar/328632 ^@ NM_000095.2(COMP):c.-9G>T http://identifiers.org/clinvar/329271 ^@ NM_181882.2(PRX):c.1964C>T (p.Pro655Leu) http://identifiers.org/clinvar/329321 ^@ NM_003573.2(LTBP4):c.2925T>C (p.Tyr975=) http://identifiers.org/clinvar/338407 ^@ NM_005461.4(MAFB):c.*30C>A http://identifiers.org/clinvar/329571 ^@ NM_025136.3(OPA3):c.*6125G>A http://identifiers.org/clinvar/329771 ^@ NM_000554.5(CRX):c.*2758C>A http://identifiers.org/clinvar/339108 ^@ NM_001001433.2(STX16):c.*2885C>T http://identifiers.org/clinvar/339308 ^@ NM_001853.3(COL9A3):c.1836C>T (p.Asp612=) http://identifiers.org/clinvar/339458 ^@ NM_012469.3(PRPF6):c.-75G>A http://identifiers.org/clinvar/330371 ^@ NM_000208.3(INSR):c.*3029T>C http://identifiers.org/clinvar/330421 ^@ NM_000208.3(INSR):c.*511delT http://identifiers.org/clinvar/340397 ^@ NM_001849.3(COL6A2):c.*106G>A http://identifiers.org/clinvar/338457 ^@ NM_000457.4(HNF4A):c.*1106G>A http://identifiers.org/clinvar/338557 ^@ NM_004994.2(MMP9):c.1671C>A (p.Ala557=) http://identifiers.org/clinvar/338657 ^@ NM_000311.4(PRNP):c.*206A>G http://identifiers.org/clinvar/338758 ^@ NM_003859.2(DPM1):c.40C>T (p.Arg14Trp) http://identifiers.org/clinvar/338808 ^@ NM_000782.4(CYP24A1):c.*77T>G http://identifiers.org/clinvar/338958 ^@ NM_004738.4(VAPB):c.*2224C>T http://identifiers.org/clinvar/341048 ^@ NM_001887.3(CRYBB1):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/339008 ^@ NM_004738.4(VAPB):c.*5511_*5513delCTG http://identifiers.org/clinvar/339058 ^@ NM_001001433.2(STX16):c.912G>C (p.Val304=) http://identifiers.org/clinvar/339408 ^@ NM_025219.2(DNAJC5):c.*2701C>T http://identifiers.org/clinvar/341448 ^@ NM_004737.5(LARGE1):c.-340T>G http://identifiers.org/clinvar/341748 ^@ NM_022098.3(XPNPEP3):c.*4614A>G http://identifiers.org/clinvar/341848 ^@ NM_001429.3(EP300):c.*785_*786delTT http://identifiers.org/clinvar/342048 ^@ NM_024105.3(ALG12):c.762C>A (p.Asn254Lys) http://identifiers.org/clinvar/388399 ^@ NM_000093.4(COL5A1):c.-33G>T http://identifiers.org/clinvar/386510 ^@ NM_004329.2(BMPR1A):c.-148C>G http://identifiers.org/clinvar/390938 ^@ NM_014391.2(ANKRD1):c.102A>G (p.Glu34=) http://identifiers.org/clinvar/386410 ^@ NM_000136.2(FANCC):c.6T>C (p.Ala2=) http://identifiers.org/clinvar/388799 ^@ NM_000535.6(PMS2):c.706-14T>A http://identifiers.org/clinvar/387999 ^@ NM_032667.6(BSCL2):c.1090C>T (p.Pro364Ser) http://identifiers.org/clinvar/388599 ^@ NM_000445.4(PLEC):c.618A>G (p.Arg206=) http://identifiers.org/clinvar/389249 ^@ NM_032578.3(MYPN):c.3552C>T (p.Pro1184=) http://identifiers.org/clinvar/385860 ^@ NM_001278503.1(STT3A):c.768T>C (p.Phe256=) http://identifiers.org/clinvar/385760 ^@ NM_021625.4(TRPV4):c.898A>G (p.Ile300Val) http://identifiers.org/clinvar/388149 ^@ NM_000920.3(PC):c.2748C>T (p.Asp916=) http://identifiers.org/clinvar/390988 ^@ NM_002180.2(IGHMBP2):c.1914G>A (p.Thr638=) http://identifiers.org/clinvar/383068 ^@ NM_007327.3(GRIN1):c.2799C>T (p.Ser933=) http://identifiers.org/clinvar/388449 ^@ NM_003383.4(VLDLR):c.1650G>T (p.Leu550=) http://identifiers.org/clinvar/391288 ^@ NM_000257.3(MYH7):c.3801G>A (p.Gln1267=) http://identifiers.org/clinvar/390088 ^@ NM_005050.3(ABCD4):c.38+20A>G http://identifiers.org/clinvar/393277 ^@ NM_001040436.2(YARS2):c.181C>G (p.Leu61Val) http://identifiers.org/clinvar/385610 ^@ NM_194318.3(B3GLCT):c.1010G>A (p.Arg337His) http://identifiers.org/clinvar/379262 ^@ NM_005159.4(ACTC1):c.954A>C (p.Glu318Asp) http://identifiers.org/clinvar/390138 ^@ NM_000138.4(FBN1):c.3024T>C (p.Cys1008=) http://identifiers.org/clinvar/379712 ^@ NM_000059.3(BRCA2):c.316+16T>C http://identifiers.org/clinvar/390738 ^@ NM_000257.3(MYH7):c.1413C>T (p.Asn471=) http://identifiers.org/clinvar/379012 ^@ NM_000059.3(BRCA2):c.8836T>C (p.Leu2946=) http://identifiers.org/clinvar/388649 ^@ NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) http://identifiers.org/clinvar/388049 ^@ NM_001271.3(CHD2):c.4720G>C (p.Gly1574Arg) http://identifiers.org/clinvar/388999 ^@ NM_001271.3(CHD2):c.5247C>T (p.Pro1749=) http://identifiers.org/clinvar/378204 ^@ NM_002474.2(MYH11):c.3531G>A (p.Thr1177=) http://identifiers.org/clinvar/386210 ^@ NM_002474.2(MYH11):c.2157C>T (p.Ile719=) http://identifiers.org/clinvar/379062 ^@ NM_130838.1(UBE3A):c.2221-15T>C http://identifiers.org/clinvar/392627 ^@ NM_130799.2(MEN1):c.783+2T>G http://identifiers.org/clinvar/379812 ^@ NM_001009944.2(PKD1):c.9169G>A (p.Val3057Met) http://identifiers.org/clinvar/388499 ^@ NM_024079.4(ALG8):c.877G>A (p.Asp293Asn) http://identifiers.org/clinvar/389099 ^@ NM_006231.3(POLE):c.5658C>T (p.Tyr1886=) http://identifiers.org/clinvar/393127 ^@ NM_000135.2(FANCA):c.1421T>C (p.Phe474Ser) http://identifiers.org/clinvar/47425 ^@ NM_133378.4(TTN):c.75619A>G (p.Ile25207Val) http://identifiers.org/clinvar/47475 ^@ NM_133378.4(TTN):c.80483T>C (p.Ile26828Thr) http://identifiers.org/clinvar/47525 ^@ NM_133378.4(TTN):c.84833T>C (p.Val28278Ala) http://identifiers.org/clinvar/47575 ^@ NM_001256850.1(TTN):c.92037T>C (p.Ala30679=) http://identifiers.org/clinvar/47625 ^@ NM_133378.4(TTN):c.92392G>A (p.Val30798Ile) http://identifiers.org/clinvar/47675 ^@ NM_133378.4(TTN):c.96872G>A (p.Arg32291Gln) http://identifiers.org/clinvar/47725 ^@ NM_133379.4(TTN):c.10361-6_10361-5delTT http://identifiers.org/clinvar/47775 ^@ NM_133379.4(TTN):c.14744G>A (p.Arg4915His) http://identifiers.org/clinvar/47825 ^@ NM_133432.3(TTN):c.11844A>G (p.Pro3948=) http://identifiers.org/clinvar/47875 ^@ NM_138691.2(TMC1):c.483G>A (p.Glu161=) http://identifiers.org/clinvar/47925 ^@ NM_144612.6(LOXHD1):c.2100G>A (p.Thr700=) http://identifiers.org/clinvar/47975 ^@ NM_005709.3(USH1C):c.1136G>A (p.Gly379Asp) http://identifiers.org/clinvar/48027 ^@ NM_170707.3(LMNA):c.*6G>A http://identifiers.org/clinvar/48077 ^@ NM_005572.3(LMNA):c.745C>G (p.Arg249Gly) http://identifiers.org/clinvar/48127 ^@ NM_173477.4(USH1G):c.1373A>T (p.Asp458Val) http://identifiers.org/clinvar/48177 ^@ NM_194248.2(OTOF):c.1703G>A (p.Arg568Gln) http://identifiers.org/clinvar/48227 ^@ NM_194248.2(OTOF):c.3893T>C (p.Val1298Ala) http://identifiers.org/clinvar/48277 ^@ NM_194248.2(OTOF):c.97C>A (p.Arg33=) http://identifiers.org/clinvar/48328 ^@ NM_201555.1(FHL2):c.689-10C>G http://identifiers.org/clinvar/48378 ^@ NM_206933.2(USH2A):c.11602A>G (p.Met3868Val) http://identifiers.org/clinvar/48428 ^@ NM_206933.2(USH2A):c.14101G>A (p.Glu4701Lys) http://identifiers.org/clinvar/48478 ^@ NM_206933.2(USH2A):c.1931A>T (p.Asp644Val) http://identifiers.org/clinvar/46 ^@ NM_015910.5(WDPCP):c.624G>C (p.Leu208Phe) http://identifiers.org/clinvar/71 ^@ NM_000374.4(UROD):c.932A>G (p.Tyr311Cys) http://identifiers.org/clinvar/98 ^@ NM_000355.3(TCN2):c.427+2T>G http://identifiers.org/clinvar/194 ^@ NM_001080476.2(GRXCR1):c.627+19A>T http://identifiers.org/clinvar/212 ^@ NM_000285.3(PEPD):c.833G>A (p.Gly278Asp) http://identifiers.org/clinvar/267 ^@ NM_178452.5(DNAAF1):c.524T>G (p.Leu175Arg) http://identifiers.org/clinvar/547 ^@ NM_152416.3(NDUFAF6):c.296A>G (p.Gln99Arg) http://identifiers.org/clinvar/660 ^@ NM_000312.3(PROC):c.902C>T (p.Ala301Val) http://identifiers.org/clinvar/733 ^@ BEAN, 2.5- TO 3.8-KB INS http://identifiers.org/clinvar/910 ^@ NM_173483.3(CYP4F22):c.1306C>G (p.His436Asp) http://identifiers.org/clinvar/957 ^@ NM_000275.2(OCA2):c.1960delG (p.Ala654Leufs) http://identifiers.org/clinvar/1098 ^@ NM_000642.2(AGL):c.4456delT (p.Ser1486Profs) http://identifiers.org/clinvar/1125 ^@ SLC35D1, IVS7, G-T, +1 http://identifiers.org/clinvar/1895 ^@ NM_000060.4(BTD):c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) http://identifiers.org/clinvar/1985 ^@ NM_207361.5(FREM2):c.5920G>A (p.Glu1974Lys) http://identifiers.org/clinvar/2029 ^@ NM_017780.3(CHD7):c.5752dupA (p.Thr1918Asnfs) http://identifiers.org/clinvar/2074 ^@ NM_020435.3(GJC2):c.718C>T (p.Arg240Ter) http://identifiers.org/clinvar/2166 ^@ NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) http://identifiers.org/clinvar/2211 ^@ NM_024006.4(VKORC1):c.-1639G>A http://identifiers.org/clinvar/2257 ^@ CYBA, 1-BP DEL, 272C http://identifiers.org/clinvar/2302 ^@ NM_005609.3(PYGM):c.1963G>A (p.Glu655Lys) http://identifiers.org/clinvar/2348 ^@ NM_016341.3(PLCE1):c.4846C>T (p.Gln1616Ter) http://identifiers.org/clinvar/2394 ^@ NM_000045.3(ARG1):c.413G>T (p.Gly138Val) http://identifiers.org/clinvar/2439 ^@ NM_001173464.1(KIF21A):c.1067T>C (p.Met356Thr) http://identifiers.org/clinvar/2485 ^@ NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) http://identifiers.org/clinvar/2530 ^@ NM_198309.3(TTC8):c.459G>A (p.Thr153=) http://identifiers.org/clinvar/2578 ^@ APOC2, 1-BP DEL, 2943G http://identifiers.org/clinvar/2623 ^@ NM_022464.4(SIL1):c.645+1G>A http://identifiers.org/clinvar/2716 ^@ FERMT1, 1-BP DEL, 464A http://identifiers.org/clinvar/2761 ^@ NM_024312.4(GNPTAB):c.771G>A (p.Leu257=) http://identifiers.org/clinvar/2806 ^@ NM_018941.3(CLN8):c.88G>C (p.Ala30Pro) http://identifiers.org/clinvar/2851 ^@ NM_020184.3(CNNM4):c.599C>A (p.Ser200Tyr) http://identifiers.org/clinvar/2898 ^@ NM_000419.4(ITGA2B):c.1366_1371delGTAGAC (p.Val456_Asp457del) http://identifiers.org/clinvar/2942 ^@ OSTM1, IVS5, G-A, +5 http://identifiers.org/clinvar/2989 ^@ NM_000543.4(SMPD1):c.911T>C (p.Leu304Pro) http://identifiers.org/clinvar/3035 ^@ NM_000051.3(ATM):c.3576G>A (p.Lys1192=) http://identifiers.org/clinvar/10933 ^@ NM_000397.3(CYBB):c.252G>A (p.Ala84=) http://identifiers.org/clinvar/11204 ^@ ARX, 1-BP DEL, 617G http://identifiers.org/clinvar/11295 ^@ ABCD1, IVS8AS, G-A, -10, 8-BP INS http://identifiers.org/clinvar/11386 ^@ NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) http://identifiers.org/clinvar/11445 ^@ NM_004493.2(HSD17B10):c.574C>A (p.Arg192=) http://identifiers.org/clinvar/11496 ^@ NM_003159.2(CDKL5):c.455G>T (p.Cys152Phe) http://identifiers.org/clinvar/11547 ^@ NM_001159702.2(FHL1):c.365G>C (p.Trp122Ser) http://identifiers.org/clinvar/11597 ^@ NM_178152.2(DCX):c.184G>A (p.Asp62Asn) http://identifiers.org/clinvar/11647 ^@ XIAP, 2606-BP DEL http://identifiers.org/clinvar/11698 ^@ NM_005629.3(SLC6A8):c.1222_1224delTTC (p.Phe408del) http://identifiers.org/clinvar/11749 ^@ NM_001110556.1(FLNA):c.623-3C>G http://identifiers.org/clinvar/11800 ^@ NM_001127899.3(CLCN5):c.2320C>T (p.Arg774Ter) http://identifiers.org/clinvar/11850 ^@ NM_000260.3(MYO7A):c.635G>A (p.Arg212His) http://identifiers.org/clinvar/11900 ^@ NM_000128.3(F11):c.1782C>A (p.Ser594Arg) http://identifiers.org/clinvar/11950 ^@ NM_001918.3(DBT):c.75_76delAT (p.Cys26Trpfs) http://identifiers.org/clinvar/12002 ^@ NM_000151.3(G6PC):c.230+4A>G http://identifiers.org/clinvar/12956 ^@ NM_001035.2(RYR2):c.12312C>G (p.Asn4104Lys) http://identifiers.org/clinvar/13007 ^@ NM_144563.2(RPIA):c.762delG (p.Asn255Ilefs) http://identifiers.org/clinvar/13363 ^@ NM_001042465.2(PSAP):c.722G>C (p.Cys241Ser) http://identifiers.org/clinvar/13417 ^@ NM_000371.3(TTR):c.148G>A (p.Val50Met) http://identifiers.org/clinvar/13469 ^@ NM_002234.3(KCNA5):c.1123G>T (p.Glu375Ter) http://identifiers.org/clinvar/13519 ^@ NM_000297.3(PKD2):c.1213C>T (p.Gln405Ter) http://identifiers.org/clinvar/38265 ^@ NM_000059.3(BRCA2):c.9934A>G (p.Ile3312Val) http://identifiers.org/clinvar/38327 ^@ NM_000171.3(GLRA1):c.1108G>A (p.Gly370Ser) http://identifiers.org/clinvar/38384 ^@ NM_005247.2(FGF3):c.150C>A (p.Cys50Ter) http://identifiers.org/clinvar/38442 ^@ NM_133378.4(TTN):c.99943delT (p.Ser33315Glnfs) http://identifiers.org/clinvar/38605 ^@ NM_020630.4(RET):c.1900T>A (p.Cys634Ser) http://identifiers.org/clinvar/38767 ^@ NM_000495.4(COL4A5):c.2623G>C (p.Gly875Arg) http://identifiers.org/clinvar/38880 ^@ NM_000532.4(PCCB):c.1556T>C (p.Leu519Pro) http://identifiers.org/clinvar/38941 ^@ NM_001363.4(DKC1):c.1223C>T (p.Thr408Ile) http://identifiers.org/clinvar/38992 ^@ NM_004614.4(TK2):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/39043 ^@ NM_024312.4(GNPTAB):c.1999G>T (p.Glu667Ter) http://identifiers.org/clinvar/39150 ^@ NM_198578.3(LRRK2):c.2428A>G (p.Ile810Val) http://identifiers.org/clinvar/39200 ^@ NM_198578.3(LRRK2):c.4937T>C (p.Met1646Thr) http://identifiers.org/clinvar/40535 ^@ NM_002834.4(PTPN11):c.923A>C (p.Asn308Thr) http://identifiers.org/clinvar/40597 ^@ NM_002880.3(RAF1):c.576A>G (p.Gln192=) http://identifiers.org/clinvar/40664 ^@ NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) http://identifiers.org/clinvar/40751 ^@ NM_002755.3(MAP2K1):c.439-8G>A http://identifiers.org/clinvar/40869 ^@ NM_003264.4(TLR2):c.2258G>A (p.Arg753Gln) http://identifiers.org/clinvar/41132 ^@ NM_003611.2(OFD1):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/41184 ^@ NM_003977.3(AIP):c.47G>A (p.Arg16His) http://identifiers.org/clinvar/51298 ^@ NM_000059.3(BRCA2):c.250C>T (p.Gln84Ter) http://identifiers.org/clinvar/51349 ^@ NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) http://identifiers.org/clinvar/51399 ^@ NM_000059.3(BRCA2):c.3096_3110delAGATATTGAAGAACAinsT (p.Lys1032Asnfs) http://identifiers.org/clinvar/51451 ^@ NM_000059.3(BRCA2):c.3352_3356delTTAGA (p.Leu1118Argfs) http://identifiers.org/clinvar/51502 ^@ NM_000059.3(BRCA2):c.3675A>G (p.Thr1225=) http://identifiers.org/clinvar/51552 ^@ NM_000059.3(BRCA2):c.3887delA (p.Asn1296Ilefs) http://identifiers.org/clinvar/51604 ^@ NM_000059.3(BRCA2):c.4137_4141delGATTA (p.Ile1380Argfs) http://identifiers.org/clinvar/51656 ^@ NM_000059.3(BRCA2):c.4490T>A (p.Val1497Asp) http://identifiers.org/clinvar/51708 ^@ NM_000059.3(BRCA2):c.475+1G>A http://identifiers.org/clinvar/51758 ^@ NM_000059.3(BRCA2):c.5035A>C (p.Thr1679Pro) http://identifiers.org/clinvar/51810 ^@ NM_000059.3(BRCA2):c.518G>T (p.Gly173Val) http://identifiers.org/clinvar/51863 ^@ NM_000059.3(BRCA2):c.5439delT (p.Val1814Terfs) http://identifiers.org/clinvar/51916 ^@ NM_000059.3(BRCA2):c.5724delA (p.Asp1909Ilefs) http://identifiers.org/clinvar/51967 ^@ NM_000059.3(BRCA2):c.5944delA (p.Ser1982Valfs) http://identifiers.org/clinvar/52018 ^@ NM_000059.3(BRCA2):c.6129dupA (p.Gly2044Argfs) http://identifiers.org/clinvar/52069 ^@ NM_000059.3(BRCA2):c.6335_6336delGA (p.Arg2112Lysfs) http://identifiers.org/clinvar/52123 ^@ NM_000059.3(BRCA2):c.6532C>A (p.His2178Asn) http://identifiers.org/clinvar/52174 ^@ NM_000059.3(BRCA2):c.6741T>A (p.Ser2247Arg) http://identifiers.org/clinvar/52224 ^@ NM_000059.3(BRCA2):c.6943A>G (p.Ile2315Val) http://identifiers.org/clinvar/52276 ^@ NM_000059.3(BRCA2):c.7166delG (p.Arg2389Lysfs) http://identifiers.org/clinvar/52326 ^@ NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) http://identifiers.org/clinvar/52376 ^@ NM_000059.3(BRCA2):c.7639A>G (p.Lys2547Glu) http://identifiers.org/clinvar/52427 ^@ NM_000059.3(BRCA2):c.7856G>A (p.Trp2619Ter) http://identifiers.org/clinvar/52477 ^@ NM_000059.3(BRCA2):c.8029delG (p.Glu2677Lysfs) http://identifiers.org/clinvar/52527 ^@ NM_000059.3(BRCA2):c.8206dupC (p.Leu2736Profs) http://identifiers.org/clinvar/52578 ^@ NM_000059.3(BRCA2):c.8414T>C (p.Leu2805Ser) http://identifiers.org/clinvar/52629 ^@ NM_000059.3(BRCA2):c.8591C>T (p.Ala2864Val) http://identifiers.org/clinvar/52680 ^@ NM_000059.3(BRCA2):c.8789delA (p.Asn2930Ilefs) http://identifiers.org/clinvar/52730 ^@ NM_000059.3(BRCA2):c.901dupG (p.Asp301Glyfs) http://identifiers.org/clinvar/53033 ^@ NM_000218.2(KCNQ1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/53083 ^@ NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) http://identifiers.org/clinvar/53134 ^@ NM_000218.2(KCNQ1):c.932C>T (p.Thr311Ile) http://identifiers.org/clinvar/53186 ^@ NM_000492.3(CFTR):c.1086T>G (p.Tyr362Ter) http://identifiers.org/clinvar/54095 ^@ NM_000492.3(CFTR):c.971C>T (p.Pro324Leu) http://identifiers.org/clinvar/54145 ^@ NM_007294.3(BRCA1):c.1141A>T (p.Lys381Ter) http://identifiers.org/clinvar/54195 ^@ NM_007294.3(BRCA1):c.1310A>C (p.His437Pro) http://identifiers.org/clinvar/54245 ^@ NM_007294.3(BRCA1):c.1406C>G (p.Ala469Gly) http://identifiers.org/clinvar/54296 ^@ NM_007294.3(BRCA1):c.1570delG (p.Ala524Glnfs) http://identifiers.org/clinvar/54346 ^@ NM_007294.3(BRCA1):c.1772delT (p.Ile591Lysfs) http://identifiers.org/clinvar/54397 ^@ NM_007294.3(BRCA1):c.1912G>T (p.Glu638Ter) http://identifiers.org/clinvar/54447 ^@ NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) http://identifiers.org/clinvar/54497 ^@ NM_007294.3(BRCA1):c.2203delC (p.Leu735Terfs) http://identifiers.org/clinvar/54547 ^@ NM_007294.3(BRCA1):c.2357delT (p.Leu786Argfs) http://identifiers.org/clinvar/54597 ^@ NM_007294.3(BRCA1):c.2556delT (p.Asp853Metfs) http://identifiers.org/clinvar/54647 ^@ NM_007294.3(BRCA1):c.2686A>T (p.Ser896Cys) http://identifiers.org/clinvar/54697 ^@ NM_007294.3(BRCA1):c.2840_2841delAA (p.Lys947Argfs) http://identifiers.org/clinvar/54747 ^@ NM_007294.3(BRCA1):c.3008_3009delTT (p.Phe1003Terfs) http://identifiers.org/clinvar/54797 ^@ NM_007294.3(BRCA1):c.3211dupG (p.Glu1071Glyfs) http://identifiers.org/clinvar/54847 ^@ NM_007294.3(BRCA1):c.3333delA (p.Glu1112Asnfs) http://identifiers.org/clinvar/54897 ^@ NM_007294.3(BRCA1):c.3479_3488delAGGAAGATAC (p.Lys1160Ilefs) http://identifiers.org/clinvar/54948 ^@ NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) http://identifiers.org/clinvar/55000 ^@ NM_007294.3(BRCA1):c.3772G>T (p.Glu1258Ter) http://identifiers.org/clinvar/55050 ^@ NM_007294.3(BRCA1):c.391A>T (p.Arg131Ter) http://identifiers.org/clinvar/55101 ^@ NM_007294.3(BRCA1):c.4092_4093delCT (p.Leu1365Argfs) http://identifiers.org/clinvar/55152 ^@ NM_007294.3(BRCA1):c.424C>G (p.Pro142Ala) http://identifiers.org/clinvar/55203 ^@ NM_007294.3(BRCA1):c.4454C>T (p.Thr1485Ile) http://identifiers.org/clinvar/55253 ^@ NM_007294.3(BRCA1):c.4656C>G (p.Tyr1552Ter) http://identifiers.org/clinvar/55304 ^@ NM_007294.3(BRCA1):c.485_486delTG (p.Val162Glufs) http://identifiers.org/clinvar/55354 ^@ NM_007294.3(BRCA1):c.5005delG (p.Ala1669Profs) http://identifiers.org/clinvar/56217 ^@ NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) http://identifiers.org/clinvar/56268 ^@ NM_001042432.1(CLN3):c.400T>C (p.Cys134Arg) http://identifiers.org/clinvar/56320 ^@ NM_001081.3(CUBN):c.1526delG (p.Gly509Glufs) http://identifiers.org/clinvar/56370 ^@ NM_001126105.2(SLC7A7):c.545dupT (p.Val183Glyfs) http://identifiers.org/clinvar/56422 ^@ NM_004646.3(NPHS1):c.1100G>A (p.Arg367His) http://identifiers.org/clinvar/56681 ^@ NM_017890.4(VPS13B):c.6420_6421delGA (p.Gln2140Hisfs) http://identifiers.org/clinvar/56731 ^@ NM_025114.3(CEP290):c.180+2T>A http://identifiers.org/clinvar/56782 ^@ NM_153704.5(TMEM67):c.387T>A (p.Cys129Ter) http://identifiers.org/clinvar/56985 ^@ GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3 http://identifiers.org/clinvar/57043 ^@ GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 http://identifiers.org/clinvar/57096 ^@ GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 http://identifiers.org/clinvar/57151 ^@ GRCh38/hg38 Xq26.2(chrX:131591045-132007449)x3 http://identifiers.org/clinvar/57201 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 http://identifiers.org/clinvar/57255 ^@ GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 http://identifiers.org/clinvar/57308 ^@ GRCh38/hg38 7q36.3(chr7:158154429-159135526)x1 http://identifiers.org/clinvar/57361 ^@ GRCh38/hg38 9p21.3(chr9:21708372-22537070)x3 http://identifiers.org/clinvar/101179 ^@ NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg) http://identifiers.org/clinvar/101279 ^@ NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ) http://identifiers.org/clinvar/127041 ^@ NM_134424.3(RAD52):c.*1194C>T http://identifiers.org/clinvar/127098 ^@ NM_006302.2(MOGS):c.370C>T (p.Gln124Ter) http://identifiers.org/clinvar/127165 ^@ NM_001101.3(ACTB):c.307G>C (p.Val103Leu) http://identifiers.org/clinvar/127264 ^@ NM_001127255.1(NLRP7):c.9G>A (p.Ser3=) http://identifiers.org/clinvar/127315 ^@ NM_000038.5(APC):c.6857C>T (p.Ala2286Val) http://identifiers.org/clinvar/127365 ^@ NM_000051.3(ATM):c.2983C>T (p.Leu995Phe) http://identifiers.org/clinvar/127415 ^@ NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) http://identifiers.org/clinvar/127465 ^@ NM_000051.3(ATM):c.8895G>C (p.Leu2965Phe) http://identifiers.org/clinvar/127516 ^@ NM_000057.3(BLM):c.819_821delGAA (p.Lys273del) http://identifiers.org/clinvar/127566 ^@ NM_000179.2(MSH6):c.188C>A (p.Ser63Tyr) http://identifiers.org/clinvar/127617 ^@ NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) http://identifiers.org/clinvar/127673 ^@ NM_000314.6(PTEN):c.-767G>T http://identifiers.org/clinvar/127726 ^@ NM_000465.3(BARD1):c.1961C>T (p.Pro654Leu) http://identifiers.org/clinvar/127776 ^@ NM_000535.6(PMS2):c.2287G>A (p.Glu763Lys) http://identifiers.org/clinvar/159961 ^@ NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/161420 ^@ NM_000100.3(CSTB):c.168+1_168+18del http://identifiers.org/clinvar/161782 ^@ NM_032383.4(HPS3):c.1509+6C>G http://identifiers.org/clinvar/161532 ^@ NM_001145097.2(SKIL):c.942A>T (p.Arg314Ser) http://identifiers.org/clinvar/161582 ^@ NM_001735.2(C5):c.3286A>G (p.Asn1096Asp) http://identifiers.org/clinvar/161482 ^@ NM_001004738.2(OR5L1):c.494G>T (p.Arg165Met) http://identifiers.org/clinvar/161732 ^@ NM_020382.4(KMT5A):c.290-3C>A http://identifiers.org/clinvar/161632 ^@ NM_005379.3(MYO1A):c.2887G>A (p.Val963Met) http://identifiers.org/clinvar/161682 ^@ NM_014738.5(TMEM94):c.953A>G (p.Gln318Arg) http://identifiers.org/clinvar/161996 ^@ NM_000492.3(CFTR):c.3963+1G>A http://identifiers.org/clinvar/162062 ^@ NM_006888.4(CALM1):c.421+16C>G http://identifiers.org/clinvar/162122 ^@ NM_005211.3(CSF1R):c.2527A>T (p.Ile843Phe) http://identifiers.org/clinvar/162181 ^@ NM_006766.4(KAT6A):c.3830_3831insTT (p.Arg1278Serfs) http://identifiers.org/clinvar/162393 ^@ NM_002335.3(LRP5):c.4651G>A (p.Asp1551Asn) http://identifiers.org/clinvar/162474 ^@ NM_004208.3(AIFM1):c.572_573delTGinsCT (p.Leu191Pro) http://identifiers.org/clinvar/162529 ^@ NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) http://identifiers.org/clinvar/162615 ^@ NM_003392.4(WNT5A):c.545G>C (p.Cys182Ser) http://identifiers.org/clinvar/178901 ^@ NM_133378.4(TTN):c.50570C>G (p.Ala16857Gly) http://identifiers.org/clinvar/166481 ^@ NM_206933.2(USH2A):c.6590C>T (p.Thr2197Ile) http://identifiers.org/clinvar/166244 ^@ NM_001256850.1(TTN):c.10595C>T (p.Pro3532Leu) http://identifiers.org/clinvar/166294 ^@ NM_133378.4(TTN):c.9870T>C (p.Asp3290=) http://identifiers.org/clinvar/166354 ^@ NM_133378.4(TTN):c.1213G>A (p.Ala405Thr) http://identifiers.org/clinvar/178750 ^@ NM_001369.2(DNAH5):c.4374G>T (p.Arg1458=) http://identifiers.org/clinvar/162859 ^@ NM_178335.2(CCDC50):c.1144G>A (p.Ala382Thr) http://identifiers.org/clinvar/166570 ^@ NM_006005.3(WFS1):c.325C>T (p.His109Tyr) http://identifiers.org/clinvar/162794 ^@ NM_004333.4(BRAF):c.*7T>C http://identifiers.org/clinvar/163379 ^@ NM_005228.4(EGFR):c.2504_2591del88 (p.His835Argfs) http://identifiers.org/clinvar/163055 ^@ NM_015404.3(WHRN):c.676G>C (p.Gly226Arg) http://identifiers.org/clinvar/163112 ^@ NM_001277115.1(DNAH11):c.7776C>T (p.His2592=) http://identifiers.org/clinvar/198448 ^@ NM_000402.4(G6PD):c.735-17C>T http://identifiers.org/clinvar/198501 ^@ NM_004006.2(DMD):c.565C>T (p.Gln189Ter) http://identifiers.org/clinvar/198553 ^@ NM_013382.5(POMT2):c.891C>A (p.Thr297=) http://identifiers.org/clinvar/198605 ^@ NM_053025.3(MYLK):c.571C>G (p.Gln191Glu) http://identifiers.org/clinvar/198656 ^@ NM_032119.3(ADGRV1):c.14970C>A (p.Leu4990=) http://identifiers.org/clinvar/198707 ^@ NM_000275.2(OCA2):c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) http://identifiers.org/clinvar/198762 ^@ NM_001080116.1(LDB3):c.787C>T (p.Arg263Cys) http://identifiers.org/clinvar/198814 ^@ NM_057174.2(PEX16):c.695-6C>T http://identifiers.org/clinvar/198869 ^@ NM_015102.4(NPHP4):c.945G>A (p.Thr315=) http://identifiers.org/clinvar/198922 ^@ NM_172107.3(KCNQ2):c.1088A>G (p.Tyr363Cys) http://identifiers.org/clinvar/198974 ^@ NM_032119.3(ADGRV1):c.18433-5dupT http://identifiers.org/clinvar/199025 ^@ NM_000489.4(ATRX):c.1868A>G (p.Lys623Arg) http://identifiers.org/clinvar/199075 ^@ NM_002206.2(ITGA7):c.1317C>T (p.Phe439=) http://identifiers.org/clinvar/199130 ^@ NM_014425.4(INVS):c.1175C>T (p.Thr392Ile) http://identifiers.org/clinvar/199180 ^@ NM_001177317.1(SLC34A3):c.882G>A (p.Pro294=) http://identifiers.org/clinvar/199236 ^@ NM_033071.3(SYNE1):c.17934C>G (p.Val5978=) http://identifiers.org/clinvar/201219 ^@ NM_001035.2(RYR2):c.1641C>A (p.Asn547Lys) http://identifiers.org/clinvar/201165 ^@ NM_001035.2(RYR2):c.2574G>A (p.Thr858=) http://identifiers.org/clinvar/201276 ^@ NM_001035.2(RYR2):c.7159G>A (p.Ala2387Thr) http://identifiers.org/clinvar/201330 ^@ NM_001035.2(RYR2):c.12372C>A (p.Ser4124Arg) http://identifiers.org/clinvar/199737 ^@ NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) http://identifiers.org/clinvar/199846 ^@ NM_004415.3(DSP):c.8024T>C (p.Val2675Ala) http://identifiers.org/clinvar/199679 ^@ NM_001613.2(ACTA2):c.1026G>A (p.Trp342Ter) http://identifiers.org/clinvar/199793 ^@ NM_001943.4(DSG2):c.2880C>G (p.Ser960Arg) http://identifiers.org/clinvar/201945 ^@ NM_144573.3(NEXN):c.1680_1682delGGA (p.Glu562del) http://identifiers.org/clinvar/202118 ^@ NM_024334.2(TMEM43):c.661C>T (p.Arg221Cys) http://identifiers.org/clinvar/202058 ^@ NM_001134363.2(RBM20):c.1607T>C (p.Ile536Thr) http://identifiers.org/clinvar/201888 ^@ NM_032578.3(MYPN):c.3110A>G (p.Gln1037Arg) http://identifiers.org/clinvar/201837 ^@ NM_007078.2(LDB3):c.398C>T (p.Pro133Leu) http://identifiers.org/clinvar/201671 ^@ NM_014391.2(ANKRD1):c.485delT (p.Leu162Trpfs) http://identifiers.org/clinvar/202001 ^@ NM_004572.3(PKP2):c.2060T>G (p.Leu687Arg) http://identifiers.org/clinvar/201782 ^@ NM_000117.2(EMD):c.115_117delTTC (p.Phe39del) http://identifiers.org/clinvar/201727 ^@ NM_004006.2(DMD):c.7472A>G (p.Gln2491Arg) http://identifiers.org/clinvar/202175 ^@ NM_000512.4(GALNS):c.47T>A (p.Val16Glu) http://identifiers.org/clinvar/202225 ^@ NC_000016.9:g.(?_28833437)_(29046252_?)dup http://identifiers.org/clinvar/203119 ^@ NM_001256850.1(TTN):c.102935T>G (p.Leu34312Arg) http://identifiers.org/clinvar/203069 ^@ NM_001256850.1(TTN):c.97891G>C (p.Gly32631Arg) http://identifiers.org/clinvar/203019 ^@ NM_001256850.1(TTN):c.91093G>A (p.Val30365Met) http://identifiers.org/clinvar/202969 ^@ NM_001256850.1(TTN):c.85822C>G (p.Pro28608Ala) http://identifiers.org/clinvar/202919 ^@ NM_001256850.1(TTN):c.78242T>G (p.Ile26081Arg) http://identifiers.org/clinvar/202869 ^@ NM_001256850.1(TTN):c.71770T>C (p.Ser23924Pro) http://identifiers.org/clinvar/202403 ^@ NM_001256850.1(TTN):c.68262T>A (p.Tyr22754Ter) http://identifiers.org/clinvar/202819 ^@ NM_001256850.1(TTN):c.64276G>T (p.Asp21426Tyr) http://identifiers.org/clinvar/232637 ^@ NM_005732.3(RAD50):c.1216G>C (p.Gly406Arg) http://identifiers.org/clinvar/231047 ^@ NM_000535.6(PMS2):c.868T>G (p.Phe290Val) http://identifiers.org/clinvar/230497 ^@ NM_000535.6(PMS2):c.354C>A (p.Ser118Arg) http://identifiers.org/clinvar/232887 ^@ NM_002485.4(NBN):c.1902T>G (p.Ala634=) http://identifiers.org/clinvar/232987 ^@ NM_002485.4(NBN):c.866G>T (p.Trp289Leu) http://identifiers.org/clinvar/233687 ^@ NM_020975.4(RET):c.2548G>T (p.Asp850Tyr) http://identifiers.org/clinvar/232787 ^@ NM_004329.2(BMPR1A):c.884delAinsGTTCATAGCGG (p.Asp295Glyfs) http://identifiers.org/clinvar/231597 ^@ NM_000051.3(ATM):c.1380G>A (p.Thr460=) http://identifiers.org/clinvar/232436 ^@ NM_000051.3(ATM):c.4265T>C (p.Ile1422Thr) http://identifiers.org/clinvar/231097 ^@ NM_000051.3(ATM):c.8268+1G>T http://identifiers.org/clinvar/230697 ^@ NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) http://identifiers.org/clinvar/233337 ^@ NM_005591.3(MRE11):c.1394A>C (p.Glu465Ala) http://identifiers.org/clinvar/231347 ^@ NM_005591.3(MRE11):c.611A>G (p.Lys204Arg) http://identifiers.org/clinvar/232386 ^@ NM_005591.3(MRE11):c.592G>T (p.Val198Leu) http://identifiers.org/clinvar/230547 ^@ NM_000059.3(BRCA2):c.1129G>A (p.Glu377Lys) http://identifiers.org/clinvar/231497 ^@ NM_000059.3(BRCA2):c.1895C>G (p.Ala632Gly) http://identifiers.org/clinvar/230647 ^@ NM_000059.3(BRCA2):c.3406A>G (p.Ile1136Val) http://identifiers.org/clinvar/233287 ^@ NM_000059.3(BRCA2):c.6170G>T (p.Gly2057Val) http://identifiers.org/clinvar/231247 ^@ NM_000059.3(BRCA2):c.6201C>A (p.Ser2067=) http://identifiers.org/clinvar/230397 ^@ NM_000059.3(BRCA2):c.6331A>G (p.Lys2111Glu) http://identifiers.org/clinvar/229947 ^@ NM_000059.3(BRCA2):c.7273A>G (p.Asn2425Asp) http://identifiers.org/clinvar/233187 ^@ NM_000059.3(BRCA2):c.7360A>T (p.Ile2454Phe) http://identifiers.org/clinvar/233537 ^@ NM_000548.4(TSC2):c.2886C>T (p.Pro962=) http://identifiers.org/clinvar/233437 ^@ NM_000548.4(TSC2):c.5258G>A (p.Arg1753Gln) http://identifiers.org/clinvar/233037 ^@ NM_024675.3(PALB2):c.2760dupA (p.Gln921Thrfs) http://identifiers.org/clinvar/231147 ^@ NM_024675.3(PALB2):c.2693G>A (p.Trp898Ter) http://identifiers.org/clinvar/230997 ^@ NM_024675.3(PALB2):c.135G>A (p.Lys45=) http://identifiers.org/clinvar/231647 ^@ NM_004360.4(CDH1):c.1008G>A (p.Glu336=) http://identifiers.org/clinvar/233087 ^@ NM_004360.4(CDH1):c.2335C>T (p.Arg779Trp) http://identifiers.org/clinvar/231547 ^@ NM_004360.4(CDH1):c.2356G>A (p.Asp786Asn) http://identifiers.org/clinvar/232587 ^@ NM_144997.5(FLCN):c.1085G>T (p.Arg362Leu) http://identifiers.org/clinvar/233237 ^@ NM_001042492.2(NF1):c.2899A>G (p.Ile967Val) http://identifiers.org/clinvar/231697 ^@ NM_001042492.2(NF1):c.3114-3T>C http://identifiers.org/clinvar/231197 ^@ NM_001042492.2(NF1):c.5092A>T (p.Thr1698Ser) http://identifiers.org/clinvar/230747 ^@ NM_001042492.2(NF1):c.6927G>A (p.Ser2309=) http://identifiers.org/clinvar/230047 ^@ NM_001042492.2(NF1):c.7190-5delT http://identifiers.org/clinvar/231397 ^@ NM_007294.3(BRCA1):c.3470G>C (p.Gly1157Ala) http://identifiers.org/clinvar/232737 ^@ NM_007294.3(BRCA1):c.2128A>G (p.Thr710Ala) http://identifiers.org/clinvar/232937 ^@ NM_007294.3(BRCA1):c.533T>A (p.Val178Asp) http://identifiers.org/clinvar/232536 ^@ NM_032043.2(BRIP1):c.2176G>A (p.Glu726Lys) http://identifiers.org/clinvar/233137 ^@ NM_032043.2(BRIP1):c.1098_1102delTTGTC (p.Cys367Leufs) http://identifiers.org/clinvar/230797 ^@ NM_032043.2(BRIP1):c.533C>T (p.Thr178Ile) http://identifiers.org/clinvar/230947 ^@ NM_032043.2(BRIP1):c.388G>A (p.Glu130Lys) http://identifiers.org/clinvar/230347 ^@ NM_005359.5(SMAD4):c.1200G>T (p.Arg400Ser) http://identifiers.org/clinvar/233487 ^@ NM_005359.5(SMAD4):c.1554C>T (p.Ile518=) http://identifiers.org/clinvar/229847 ^@ NM_007194.3(CHEK2):c.1375G>C (p.Ala459Pro) http://identifiers.org/clinvar/235295 ^@ NM_001080463.1(DYNC2H1):c.10895C>T (p.Ala3632Val) http://identifiers.org/clinvar/235347 ^@ NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe) http://identifiers.org/clinvar/235402 ^@ NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) http://identifiers.org/clinvar/235457 ^@ NC_012920.1:m.8865G>A http://identifiers.org/clinvar/235508 ^@ NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) http://identifiers.org/clinvar/235562 ^@ NM_000124.3(ERCC6):c.2297G>T (p.Cys766Phe) http://identifiers.org/clinvar/235612 ^@ NM_000054.4(AVPR2):c.392T>C (p.Leu131Pro) http://identifiers.org/clinvar/235664 ^@ NM_174916.2(UBR1):c.3290C>T (p.Thr1097Met) http://identifiers.org/clinvar/235718 ^@ NC_012920.1:m.6261G>A http://identifiers.org/clinvar/235780 ^@ NM_033407.3(DOCK7):c.1283-14delT http://identifiers.org/clinvar/235852 ^@ NM_015107.2(PHF8):c.1141+5G>C http://identifiers.org/clinvar/236036 ^@ NM_004086.2(COCH):c.1159C>T (p.Leu387Phe) http://identifiers.org/clinvar/236136 ^@ NM_000350.2(ABCA4):c.5606C>T (p.Pro1869Leu) http://identifiers.org/clinvar/236086 ^@ NM_000350.2(ABCA4):c.1793T>G (p.Val598Gly) http://identifiers.org/clinvar/236186 ^@ NM_014625.3(NPHS2):c.378+42T>G http://identifiers.org/clinvar/236274 ^@ NM_007294.3(BRCA1):c.5496_5499delGGTG (p.Val1833Profs) http://identifiers.org/clinvar/236325 ^@ NC_000022.9:g.17257787_19792353dup2534567 http://identifiers.org/clinvar/236375 ^@ NC_000001.10:g.146499479_147830375dup1330897 http://identifiers.org/clinvar/236476 ^@ NM_201253.2(CRB1):c.4159G>T (p.Glu1387Ter) http://identifiers.org/clinvar/236526 ^@ NM_006017.2(PROM1):c.1141+5G>C http://identifiers.org/clinvar/236426 ^@ NM_015629.3(PRPF31):c.967G>T (p.Glu323Ter) http://identifiers.org/clinvar/238222 ^@ NM_001035.2(RYR2):c.13167A>G (p.Gly4389=) http://identifiers.org/clinvar/238872 ^@ NM_001267550.2(TTN):c.97003C>T (p.Pro32335Ser) http://identifiers.org/clinvar/238722 ^@ NM_001267550.2(TTN):c.23817C>G (p.Phe7939Leu) http://identifiers.org/clinvar/238822 ^@ NM_001267550.2(TTN):c.6358C>T (p.Arg2120Trp) http://identifiers.org/clinvar/238772 ^@ NM_001267550.2(TTN):c.4060_4062delGTT (p.Val1354del) http://identifiers.org/clinvar/237822 ^@ NM_000465.3(BARD1):c.1593C>G (p.Val531=) http://identifiers.org/clinvar/237772 ^@ NM_000388.3(CASR):c.762T>C (p.His254=) http://identifiers.org/clinvar/238572 ^@ NM_001148.4(ANK2):c.2476-10G>T http://identifiers.org/clinvar/236576 ^@ NM_000038.5(APC):c.2568C>T (p.Arg856=) http://identifiers.org/clinvar/236626 ^@ NM_000038.5(APC):c.5981A>T (p.Asp1994Val) http://identifiers.org/clinvar/238622 ^@ NM_001190787.1(MCIDAS):c.821G>A (p.Gly274Glu) http://identifiers.org/clinvar/238922 ^@ NM_001277115.1(DNAH11):c.4678C>G (p.Leu1560Val) http://identifiers.org/clinvar/262775 ^@ NM_153717.2(EVC):c.2449+15delC http://identifiers.org/clinvar/262075 ^@ NM_032446.2(MEGF10):c.3215G>A (p.Arg1072Lys) http://identifiers.org/clinvar/258525 ^@ NM_001999.3(FBN2):c.6840G>A (p.Pro2280=) http://identifiers.org/clinvar/255936 ^@ NM_000358.2(TGFBI):c.1416C>T (p.Leu472=) http://identifiers.org/clinvar/257975 ^@ NM_001369.2(DNAH5):c.11211+42T>C http://identifiers.org/clinvar/258025 ^@ NM_001369.2(DNAH5):c.3890A>G (p.Asp1297Gly) http://identifiers.org/clinvar/261675 ^@ NM_023073.3(C5orf42):c.7275G>A (p.Ala2425=) http://identifiers.org/clinvar/256086 ^@ NM_000426.3(LAMA2):c.7452-9A>G http://identifiers.org/clinvar/262175 ^@ NM_033071.3(SYNE1):c.18891+17A>G http://identifiers.org/clinvar/256286 ^@ NM_000500.7(CYP21A2):c.118C>T (p.Leu40=) http://identifiers.org/clinvar/255186 ^@ NM_000129.3(F13A1):c.1954G>C (p.Glu652Gln) http://identifiers.org/clinvar/258125 ^@ NM_001458.4(FLNC):c.-12G>T http://identifiers.org/clinvar/258475 ^@ NM_001868.3(CPA1):c.474C>T (p.Tyr158=) http://identifiers.org/clinvar/257875 ^@ NM_001277115.1(DNAH11):c.1885C>T (p.Pro629Ser) http://identifiers.org/clinvar/257925 ^@ NM_001277115.1(DNAH11):c.7266+5G>A http://identifiers.org/clinvar/261975 ^@ NM_031443.3(CCM2):c.915G>A (p.Thr305=) http://identifiers.org/clinvar/258175 ^@ NM_001715.2(BLK):c.116C>T (p.Pro39Leu) http://identifiers.org/clinvar/258775 ^@ NM_002546.3(TNFRSF11B):c.9C>G (p.Asn3Lys) http://identifiers.org/clinvar/258625 ^@ NM_002316.3(LMX1B):c.441A>G (p.Glu147=) http://identifiers.org/clinvar/255686 ^@ NM_000264.3(PTCH1):c.394+37C>G http://identifiers.org/clinvar/262125 ^@ NM_032844.4(MASTL):c.477G>A (p.Pro159=) http://identifiers.org/clinvar/258825 ^@ NM_002860.3(ALDH18A1):c.2206+15G>A http://identifiers.org/clinvar/257675 ^@ NM_001254757.1(ST3GAL4):c.439T>C (p.Leu147=) http://identifiers.org/clinvar/258575 ^@ NM_002180.2(IGHMBP2):c.57T>C (p.Leu19=) http://identifiers.org/clinvar/258225 ^@ NM_001844.4(COL2A1):c.2295C>T (p.Gly765=) http://identifiers.org/clinvar/262575 ^@ NM_145064.2(STAC3):c.570G>A (p.Lys190=) http://identifiers.org/clinvar/256686 ^@ NM_000552.4(VWF):c.5664+33G>A http://identifiers.org/clinvar/261825 ^@ NM_025114.3(CEP290):c.1298A>G (p.Asp433Gly) http://identifiers.org/clinvar/255736 ^@ NM_000282.3(PCCA):c.24A>G (p.Thr8=) http://identifiers.org/clinvar/258075 ^@ NM_001376.4(DYNC1H1):c.3414C>T (p.Asn1138=) http://identifiers.org/clinvar/261625 ^@ NM_022489.3(INF2):c.42G>A (p.Leu14=) http://identifiers.org/clinvar/255636 ^@ NM_000257.3(MYH7):c.999+44T>C http://identifiers.org/clinvar/261925 ^@ NM_030621.4(DICER1):c.4680G>A (p.Ala1560=) http://identifiers.org/clinvar/262375 ^@ NM_138477.2(CDAN1):c.3450+11C>T http://identifiers.org/clinvar/335672 ^@ NM_001029883.2(C2orf71):c.258G>A (p.Arg86=) http://identifiers.org/clinvar/335022 ^@ NM_005199.4(CHRNG):c.*508T>C http://identifiers.org/clinvar/335772 ^@ NM_000379.3(XDH):c.2488C>T (p.Arg830Cys) http://identifiers.org/clinvar/335222 ^@ NM_004321.7(KIF1A):c.*2576A>G http://identifiers.org/clinvar/335272 ^@ NM_004321.7(KIF1A):c.2674+13C>T http://identifiers.org/clinvar/335322 ^@ NM_152783.4(D2HGDH):c.1502T>C (p.Leu501Pro) http://identifiers.org/clinvar/335472 ^@ NM_194248.2(OTOF):c.-120G>T http://identifiers.org/clinvar/335572 ^@ NM_001029883.2(C2orf71):c.*3037G>A http://identifiers.org/clinvar/335622 ^@ NM_001029883.2(C2orf71):c.*686A>T http://identifiers.org/clinvar/335822 ^@ NM_014946.3(SPAST):c.-220G>T http://identifiers.org/clinvar/337518 ^@ NM_014014.4(SNRNP200):c.*331G>C http://identifiers.org/clinvar/337568 ^@ NM_014014.4(SNRNP200):c.93C>T (p.Thr31=) http://identifiers.org/clinvar/337618 ^@ NM_020184.3(CNNM4):c.*2120C>T http://identifiers.org/clinvar/342348 ^@ NM_016247.3(IMPG2):c.1553A>G (p.Asn518Ser) http://identifiers.org/clinvar/334622 ^@ NM_003590.4(CUL3):c.*294A>G http://identifiers.org/clinvar/334672 ^@ NM_000092.4(COL4A4):c.*2069T>C http://identifiers.org/clinvar/334722 ^@ NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) http://identifiers.org/clinvar/342498 ^@ NM_000551.3(VHL):c.*3261T>C http://identifiers.org/clinvar/334522 ^@ NM_015311.2(OBSL1):c.1390G>T (p.Asp464Tyr) http://identifiers.org/clinvar/334822 ^@ NM_000091.4(COL4A3):c.*2228T>C http://identifiers.org/clinvar/334872 ^@ NM_025243.3(SLC19A3):c.*204G>A http://identifiers.org/clinvar/342648 ^@ NM_020754.3(ARHGAP31):c.1700C>T (p.Pro567Leu) http://identifiers.org/clinvar/334922 ^@ NM_152383.4(DIS3L2):c.-229C>T http://identifiers.org/clinvar/342698 ^@ NM_020754.3(ARHGAP31):c.*1373G>A http://identifiers.org/clinvar/334972 ^@ NM_000751.2(CHRND):c.1253-9C>T http://identifiers.org/clinvar/342898 ^@ NM_053025.3(MYLK):c.1213A>G (p.Met405Val) http://identifiers.org/clinvar/335122 ^@ NM_004369.3(COL6A3):c.4935T>C (p.Asp1645=) http://identifiers.org/clinvar/334772 ^@ NM_000091.4(COL4A3):c.3419-14T>G http://identifiers.org/clinvar/337668 ^@ NM_001298.2(CNGA3):c.1949A>C (p.Glu650Ala) http://identifiers.org/clinvar/342398 ^@ NM_000551.3(VHL):c.-166C>T http://identifiers.org/clinvar/335422 ^@ NM_194248.2(OTOF):c.*697G>A http://identifiers.org/clinvar/335072 ^@ NM_000541.4(SAG):c.1047-13T>C http://identifiers.org/clinvar/335522 ^@ NM_002437.4(MPV17):c.*194G>A http://identifiers.org/clinvar/342548 ^@ NM_198196.2(CD96):c.1719C>T (p.Asn573=) http://identifiers.org/clinvar/335372 ^@ NM_000182.4(HADHA):c.*202G>A http://identifiers.org/clinvar/342848 ^@ NM_053025.3(MYLK):c.*712G>A http://identifiers.org/clinvar/342948 ^@ NM_000373.3(UMPS):c.*1051G>T http://identifiers.org/clinvar/335722 ^@ NM_004304.4(ALK):c.-273G>C http://identifiers.org/clinvar/350527 ^@ NM_001182.4(ALDH7A1):c.*2584C>A http://identifiers.org/clinvar/350727 ^@ NM_001999.3(FBN2):c.*1420_*1421dupAA http://identifiers.org/clinvar/350627 ^@ NM_005573.3(LMNB1):c.*629G>C http://identifiers.org/clinvar/350777 ^@ NM_001999.3(FBN2):c.3676T>G (p.Ser1226Ala) http://identifiers.org/clinvar/350677 ^@ NM_032446.2(MEGF10):c.*209C>G http://identifiers.org/clinvar/350827 ^@ NM_003060.3(SLC22A5):c.*843T>C http://identifiers.org/clinvar/350977 ^@ NM_017415.2(KLHL3):c.*317_*320delGTGT http://identifiers.org/clinvar/351027 ^@ NM_006790.2(MYOT):c.1190+12A>G http://identifiers.org/clinvar/350927 ^@ NM_017415.2(KLHL3):c.*3920T>G http://identifiers.org/clinvar/351177 ^@ NM_199189.2(MATR3):c.*1810_*1812delGAT http://identifiers.org/clinvar/351127 ^@ NM_199189.2(MATR3):c.1183-5G>A http://identifiers.org/clinvar/358553 ^@ NM_000111.2(SLC26A3):c.711C>G (p.His237Gln) http://identifiers.org/clinvar/351227 ^@ NM_002488.4(NDUFA2):c.-50G>A http://identifiers.org/clinvar/358603 ^@ NM_014491.3(FOXP2):c.199C>G (p.Gln67Glu) http://identifiers.org/clinvar/351427 ^@ NM_054027.4(ANKH):c.*3899T>C http://identifiers.org/clinvar/351277 ^@ NM_005219.4(DIAPH1):c.*618G>C http://identifiers.org/clinvar/358803 ^@ NM_006193.2(PAX4):c.547C>T (p.Arg183Cys) http://identifiers.org/clinvar/351927 ^@ NM_054027.4(ANKH):c.-72_-65delGTCGCCCC http://identifiers.org/clinvar/358953 ^@ NM_005989.3(AKR1D1):c.262-7C>A http://identifiers.org/clinvar/359153 ^@ NM_001080413.3(NOBOX):c.211-4G>C http://identifiers.org/clinvar/359253 ^@ NM_014141.5(CNTNAP2):c.*3742A>G http://identifiers.org/clinvar/356564 ^@ NM_001145717.1(PNPLA1):c.745G>A (p.Glu249Lys) http://identifiers.org/clinvar/352564 ^@ NM_002187.2(IL12B):c.*497C>T http://identifiers.org/clinvar/356664 ^@ NM_005943.5(MOCS1):c.519T>G (p.Ser173Arg) http://identifiers.org/clinvar/356714 ^@ NM_002098.5(GUCA1B):c.*618G>A http://identifiers.org/clinvar/352414 ^@ NM_000337.5(SGCD):c.*5928G>T http://identifiers.org/clinvar/352614 ^@ NM_000806.5(GABRA1):c.*1506A>C http://identifiers.org/clinvar/356764 ^@ NM_000322.4(PRPH2):c.*543G>A http://identifiers.org/clinvar/356814 ^@ NM_014780.4(CUL7):c.5072C>T (p.Thr1691Ile) http://identifiers.org/clinvar/352514 ^@ NM_001099287.1(NIPAL4):c.594G>A (p.Ala198=) http://identifiers.org/clinvar/356964 ^@ NM_006502.2(POLH):c.*2441T>C http://identifiers.org/clinvar/352764 ^@ NM_001017995.2(SH3PXD2B):c.*2057T>C http://identifiers.org/clinvar/353064 ^@ NM_014244.4(ADAMTS2):c.*1468A>G http://identifiers.org/clinvar/357364 ^@ NM_138694.3(PKHD1):c.*2967T>A http://identifiers.org/clinvar/353264 ^@ NM_002185.3(IL7R):c.419G>A (p.Arg140Gln) http://identifiers.org/clinvar/357414 ^@ NM_138694.3(PKHD1):c.9714A>G (p.Gly3238=) http://identifiers.org/clinvar/353314 ^@ NM_004172.4(SLC1A3):c.676C>G (p.Arg226Gly) http://identifiers.org/clinvar/360942 ^@ NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys) http://identifiers.org/clinvar/357464 ^@ NM_052872.3(IL17F):c.*136A>G http://identifiers.org/clinvar/361443 ^@ NM_001385.2(DPYS):c.*344T>A http://identifiers.org/clinvar/361192 ^@ NM_178857.5(RP1L1):c.*307T>C http://identifiers.org/clinvar/353614 ^@ NM_002310.5(LIFR):c.2498-7G>A http://identifiers.org/clinvar/361392 ^@ NM_178857.5(RP1L1):c.844A>C (p.Asn282His) http://identifiers.org/clinvar/353364 ^@ NM_133433.3(NIPBL):c.-379G>A http://identifiers.org/clinvar/361802 ^@ NM_004519.3(KCNQ3):c.*4746_*4747insACAG http://identifiers.org/clinvar/363741 ^@ NM_018972.2(GDAP1):c.*1416G>A http://identifiers.org/clinvar/363891 ^@ NM_002485.4(NBN):c.*2212G>A http://identifiers.org/clinvar/299844 ^@ NM_021252.4(RAB18):c.*1488A>C http://identifiers.org/clinvar/363941 ^@ NM_018444.3(PDP1):c.128G>C (p.Arg43Pro) http://identifiers.org/clinvar/299894 ^@ NM_020975.4(RET):c.1618A>G (p.Arg540Gly) http://identifiers.org/clinvar/364241 ^@ NM_014425.4(INVS):c.*466_*467insTCAC http://identifiers.org/clinvar/300194 ^@ NM_033056.3(PCDH15):c.1631T>G (p.Ile544Ser) http://identifiers.org/clinvar/361092 ^@ NM_017890.4(VPS13B):c.10830C>T (p.Asp3610=) http://identifiers.org/clinvar/300494 ^@ NM_022124.5(CDH23):c.*515C>A http://identifiers.org/clinvar/300644 ^@ NM_004273.4(CHST3):c.*3167G>A http://identifiers.org/clinvar/308637 ^@ NM_198578.3(LRRK2):c.4934A>G (p.Tyr1645Cys) http://identifiers.org/clinvar/308787 ^@ NM_020638.2(FGF23):c.*614G>A http://identifiers.org/clinvar/308937 ^@ NM_001844.4(COL2A1):c.85+10C>G http://identifiers.org/clinvar/301683 ^@ NM_016341.3(PLCE1):c.441G>A (p.Lys147=) http://identifiers.org/clinvar/309087 ^@ NM_003482.3(KMT2D):c.1155C>T (p.Pro385=) http://identifiers.org/clinvar/309237 ^@ NM_000486.5(AQP2):c.*103A>G http://identifiers.org/clinvar/366031 ^@ NM_024757.4(EHMT1):c.3641T>C (p.Met1214Thr) http://identifiers.org/clinvar/301933 ^@ NM_004771.3(MMP20):c.1430C>G (p.Ser477Cys) http://identifiers.org/clinvar/309487 ^@ NM_002282.3(KRT83):c.*225C>T http://identifiers.org/clinvar/301983 ^@ NM_002427.3(MMP13):c.935A>G (p.His312Arg) http://identifiers.org/clinvar/366131 ^@ NM_144966.5(FREM1):c.3756A>G (p.Gln1252=) http://identifiers.org/clinvar/365780 ^@ NM_000093.4(COL5A1):c.*1806C>T http://identifiers.org/clinvar/366181 ^@ NM_144966.5(FREM1):c.-60A>T http://identifiers.org/clinvar/366231 ^@ NM_003070.4(SMARCA2):c.4029T>G (p.Leu1343=) http://identifiers.org/clinvar/365880 ^@ NM_019892.5(INPP5E):c.1506G>A (p.Pro502=) http://identifiers.org/clinvar/302233 ^@ NM_000051.3(ATM):c.-328A>T http://identifiers.org/clinvar/365931 ^@ NM_006412.3(AGPAT2):c.234C>T (p.Phe78=) http://identifiers.org/clinvar/365981 ^@ NM_016219.4(MAN1B1):c.*185T>G http://identifiers.org/clinvar/302333 ^@ NM_002906.3(RDX):c.*923delT http://identifiers.org/clinvar/366081 ^@ NM_144966.5(FREM1):c.*1205T>C http://identifiers.org/clinvar/366531 ^@ NM_001256054.2(C9orf72):c.-113C>G http://identifiers.org/clinvar/366581 ^@ NM_175073.2(APTX):c.*851_*852delCT http://identifiers.org/clinvar/366281 ^@ NM_002451.3(MTAP):c.*1622delA http://identifiers.org/clinvar/302633 ^@ NM_174934.3(SCN4B):c.*812A>G http://identifiers.org/clinvar/366681 ^@ NM_012144.3(DNAI1):c.-145C>T http://identifiers.org/clinvar/366331 ^@ NM_003070.4(SMARCA2):c.*29C>T http://identifiers.org/clinvar/366731 ^@ NM_004629.1(FANCG):c.1689G>C (p.Arg563=) http://identifiers.org/clinvar/366781 ^@ NM_003995.3(NPR2):c.725G>A (p.Arg242Lys) http://identifiers.org/clinvar/366981 ^@ NM_001042413.1(GLIS3):c.1260C>T (p.Pro420=) http://identifiers.org/clinvar/310881 ^@ NM_004115.3(FGF14):c.*802_*805delGTGT http://identifiers.org/clinvar/314370 ^@ NM_001040108.1(MLH3):c.4242+13C>G http://identifiers.org/clinvar/322005 ^@ NM_002615.6(SERPINF1):c.587C>T (p.Thr196Ile) http://identifiers.org/clinvar/340709 ^@ NM_014339.6(IL17RA):c.*4359T>C http://identifiers.org/clinvar/322155 ^@ NM_016239.3(MYO15A):c.6274-10C>T http://identifiers.org/clinvar/314570 ^@ NM_004863.3(SPTLC2):c.*6253T>C http://identifiers.org/clinvar/314670 ^@ NM_004863.3(SPTLC2):c.1239T>C (p.Pro413=) http://identifiers.org/clinvar/312970 ^@ NM_000359.2(TGM1):c.2264C>T (p.Ser755Leu) http://identifiers.org/clinvar/313370 ^@ NM_000161.2(GCH1):c.*1142G>A http://identifiers.org/clinvar/313570 ^@ NM_182914.2(SYNE2):c.12352G>A (p.Glu4118Lys) http://identifiers.org/clinvar/313720 ^@ NM_000347.5(SPTB):c.5052C>T (p.Arg1684=) http://identifiers.org/clinvar/313770 ^@ NM_000347.5(SPTB):c.1286G>A (p.Arg429Gln) http://identifiers.org/clinvar/315809 ^@ NM_002225.3(IVD):c.*338G>A http://identifiers.org/clinvar/314020 ^@ NM_031427.3(DNAL1):c.533-14C>A http://identifiers.org/clinvar/314070 ^@ NM_031427.3(DNAL1):c.*2923dupT http://identifiers.org/clinvar/323844 ^@ NM_004287.4(GOSR2):c.*1703A>G http://identifiers.org/clinvar/316159 ^@ NM_014080.4(DUOX2):c.3041C>T (p.Ala1014Val) http://identifiers.org/clinvar/316359 ^@ NM_000138.4(FBN1):c.*57A>G http://identifiers.org/clinvar/316459 ^@ NM_031226.2(CYP19A1):c.*747G>A http://identifiers.org/clinvar/324201 ^@ NM_015294.4(TRIM37):c.1200-11A>G http://identifiers.org/clinvar/314620 ^@ NM_004863.3(SPTLC2):c.*2749A>C http://identifiers.org/clinvar/316659 ^@ NM_000236.2(LIPC):c.461C>A (p.Ser154Tyr) http://identifiers.org/clinvar/314720 ^@ NM_000369.2(TSHR):c.*1580A>G http://identifiers.org/clinvar/324753 ^@ NM_031220.3(PITPNM3):c.1206G>A (p.Ser402=) http://identifiers.org/clinvar/325053 ^@ NM_173477.4(USH1G):c.753C>T (p.Ser251=) http://identifiers.org/clinvar/315609 ^@ NM_133647.1(SLC12A6):c.2385C>T (p.Val795=) http://identifiers.org/clinvar/315659 ^@ NM_005159.4(ACTC1):c.*1445C>G http://identifiers.org/clinvar/315909 ^@ NM_138477.2(CDAN1):c.*722G>A http://identifiers.org/clinvar/316059 ^@ NM_201631.3(TGM5):c.723C>G (p.Asn241Lys) http://identifiers.org/clinvar/316259 ^@ NM_000338.2(SLC12A1):c.1560+10G>A http://identifiers.org/clinvar/325843 ^@ NM_000199.3(SGSH):c.411G>A (p.Ala137=) http://identifiers.org/clinvar/372188 ^@ KIF5A, 1-BP DEL, 2934G http://identifiers.org/clinvar/372244 ^@ NM_153461.3(IL17RC):c.1126C>T (p.Arg376Ter) http://identifiers.org/clinvar/373420 ^@ NM_000016.5(ACADM):c.739A>G (p.Thr247Ala) http://identifiers.org/clinvar/373270 ^@ NM_022114.3(PRDM16):c.2953G>A (p.Asp985Asn) http://identifiers.org/clinvar/372350 ^@ NM_000094.3(COL7A1):c.7485+5G>A http://identifiers.org/clinvar/372970 ^@ NM_005045.3(RELN):c.7919G>C (p.Trp2640Ser) http://identifiers.org/clinvar/373220 ^@ NM_024531.4(SLC52A2):c.1276C>T (p.Pro426Ser) http://identifiers.org/clinvar/372867 ^@ NM_001069.2(TUBB2A):c.602C>G (p.Ser201Cys) http://identifiers.org/clinvar/372662 ^@ NM_007078.2(LDB3):c.690-4754G>A http://identifiers.org/clinvar/372298 ^@ NM_000019.3(ACAT1):c.983C>T (p.Ala328Val) http://identifiers.org/clinvar/372560 ^@ NM_000260.3(MYO7A):c.3724C>T (p.Gln1242Ter) http://identifiers.org/clinvar/373120 ^@ NM_174916.2(UBR1):c.1295T>C (p.Ile432Thr) http://identifiers.org/clinvar/373370 ^@ NM_003922.3(HERC1):c.13142C>G (p.Thr4381Arg) http://identifiers.org/clinvar/373020 ^@ NM_144997.5(FLCN):c.241_242delAT (p.Met81Valfs) http://identifiers.org/clinvar/372508 ^@ NM_001080442.2(SLC38A8):c.848A>C (p.Asp283Ala) http://identifiers.org/clinvar/372919 ^@ NM_173630.3(RTTN):c.3338G>A (p.Cys1113Tyr) http://identifiers.org/clinvar/372401 ^@ NM_005559.3(LAMA1):c.664C>T (p.Arg222Ter) http://identifiers.org/clinvar/373070 ^@ NM_001972.3(ELANE):c.600_601dupGG (p.Asp201Glyfs) http://identifiers.org/clinvar/372610 ^@ NM_145068.3(TRPV3):c.1703G>A (p.Gly568Asp) http://identifiers.org/clinvar/373170 ^@ NM_001390.4(DTNA):c.1345T>C (p.Ser449Pro) http://identifiers.org/clinvar/372764 ^@ NM_000095.2(COMP):c.956A>T (p.Asp319Val) http://identifiers.org/clinvar/373320 ^@ NM_000444.5(PHEX):c.2015T>C (p.Leu672Pro) http://identifiers.org/clinvar/372714 ^@ NM_000284.3(PDHA1):c.858_861dupTTAC (p.Arg288Leufs) http://identifiers.org/clinvar/372455 ^@ NM_000444.5(PHEX):c.883delG (p.Ala295Profs) http://identifiers.org/clinvar/372815 ^@ NM_005120.2(MED12):c.397-12A>G http://identifiers.org/clinvar/374336 ^@ NM_001851.4(COL9A1):c.876+2T>A http://identifiers.org/clinvar/374266 ^@ NM_006941.3(SOX10):c.316C>G (p.Arg106Gly) http://identifiers.org/clinvar/374401 ^@ NM_001139457.2(BCAP31):c.107C>A (p.Ser36Ter) http://identifiers.org/clinvar/374454 ^@ NM_001242897.1(DEPDC5):c.501G>A (p.Thr167=) http://identifiers.org/clinvar/374504 ^@ NM_000520.5(HEXA):c.1302C>G (p.Phe434Leu) http://identifiers.org/clinvar/374814 ^@ NM_000141.4(FGFR2):c.940-2A>G http://identifiers.org/clinvar/374864 ^@ NM_033068.2(ACPT):c.226C>T (p.Arg76Cys) http://identifiers.org/clinvar/374927 ^@ NM_015213.3(DENND5A):c.1622A>G (p.Asp541Gly) http://identifiers.org/clinvar/374981 ^@ NM_000548.4(TSC2):c.1137G>A (p.Glu379=) http://identifiers.org/clinvar/375262 ^@ NM_130838.1(UBE3A):c.2493_2509del17 (p.Ser831Argfs) http://identifiers.org/clinvar/375314 ^@ NM_014855.2(AP5Z1):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/375367 ^@ NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) http://identifiers.org/clinvar/375422 ^@ NM_001453.2(FOXC1):c.268G>A (p.Ala90Thr) http://identifiers.org/clinvar/375487 ^@ NM_001003694.1(BRPF1):c.2497C>T (p.Arg833Ter) http://identifiers.org/clinvar/375541 ^@ NM_014191.3(SCN8A):c.920A>G (p.Asn307Ser) http://identifiers.org/clinvar/375606 ^@ NM_018713.2(SLC30A10):c.460C>T (p.Gln154Ter) http://identifiers.org/clinvar/375659 ^@ NM_000789.3(ACE):c.2306-119_2306-118insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC http://identifiers.org/clinvar/375803 ^@ NM_000527.4(LDLR):c.940_940+14del http://identifiers.org/clinvar/375853 ^@ NM_000724.3(CACNB2):c.1426C>T (p.Arg476Cys) http://identifiers.org/clinvar/375906 ^@ NM_000222.2(KIT):c.1650A>T (p.Lys550Asn) http://identifiers.org/clinvar/378165 ^@ NM_000179.2(MSH6):c.1065T>C (p.Gly355=) http://identifiers.org/clinvar/388360 ^@ NM_000179.2(MSH6):c.1698A>C (p.Gly566=) http://identifiers.org/clinvar/387510 ^@ NM_004369.3(COL6A3):c.5061C>T (p.Pro1687=) http://identifiers.org/clinvar/392238 ^@ NM_006514.3(SCN10A):c.2554G>A (p.Glu852Lys) http://identifiers.org/clinvar/392088 ^@ NM_024334.2(TMEM43):c.512+19G>A http://identifiers.org/clinvar/387960 ^@ NM_001148.4(ANK2):c.3807C>A (p.Thr1269=) http://identifiers.org/clinvar/383369 ^@ NM_000038.5(APC):c.3307A>T (p.Arg1103Trp) http://identifiers.org/clinvar/386610 ^@ NM_020117.10(LARS):c.1953A>G (p.Ala651=) http://identifiers.org/clinvar/391438 ^@ NM_001999.3(FBN2):c.6534C>T (p.Ser2178=) http://identifiers.org/clinvar/390499 ^@ NM_004387.3(NKX2-5):c.147C>G (p.Ala49=) http://identifiers.org/clinvar/390049 ^@ NM_033071.3(SYNE1):c.16360-3C>T http://identifiers.org/clinvar/378571 ^@ NM_032861.3(SERAC1):c.1828+10C>G http://identifiers.org/clinvar/390399 ^@ NM_032380.4(GFM2):c.431-3T>C http://identifiers.org/clinvar/387260 ^@ NM_002454.2(MTRR):c.1188T>C (p.Ala396=) http://identifiers.org/clinvar/390199 ^@ NM_014244.4(ADAMTS2):c.3014C>T (p.Ala1005Val) http://identifiers.org/clinvar/380063 ^@ NM_013391.3(DMGDH):c.1467C>T (p.Gly489=) http://identifiers.org/clinvar/377813 ^@ NM_004415.3(DSP):c.6452G>A (p.Arg2151Gln) http://identifiers.org/clinvar/378470 ^@ NM_020320.4(RARS2):c.660A>C (p.Ala220=) http://identifiers.org/clinvar/386760 ^@ NM_005045.3(RELN):c.6302+20C>T http://identifiers.org/clinvar/377713 ^@ NM_014141.5(CNTNAP2):c.3475+15C>T http://identifiers.org/clinvar/380163 ^@ NM_001167734.1(VARS2):c.3123C>T (p.Asp1041=) http://identifiers.org/clinvar/377463 ^@ NM_001182.4(ALDH7A1):c.1009-14C>T http://identifiers.org/clinvar/392538 ^@ NM_012210.3(TRIM32):c.1503A>G (p.Gly501=) http://identifiers.org/clinvar/389699 ^@ NM_000445.4(PLEC):c.8562C>T (p.Asp2854=) http://identifiers.org/clinvar/387010 ^@ NM_000445.4(PLEC):c.8520C>T (p.Gly2840=) http://identifiers.org/clinvar/377663 ^@ NM_000742.3(CHRNA2):c.168C>T (p.Thr56=) http://identifiers.org/clinvar/390449 ^@ NM_018341.2(ERMARD):c.385C>T (p.Leu129=) http://identifiers.org/clinvar/389749 ^@ NM_017866.5(TMEM70):c.317-16T>C http://identifiers.org/clinvar/385921 ^@ NM_007327.3(GRIN1):c.2334-18A>T http://identifiers.org/clinvar/380313 ^@ NM_178012.4(TUBB2B):c.342C>T (p.Asp114=) http://identifiers.org/clinvar/387660 ^@ NM_001130438.2(SPTAN1):c.6478C>T (p.Arg2160Cys) http://identifiers.org/clinvar/391838 ^@ NM_004722.3(AP4M1):c.1238G>A (p.Arg413Gln) http://identifiers.org/clinvar/387810 ^@ NM_020822.2(KCNT1):c.3039C>T (p.Thr1013=) http://identifiers.org/clinvar/387410 ^@ NM_007171.3(POMT1):c.630G>A (p.Thr210=) http://identifiers.org/clinvar/133013 ^@ NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) http://identifiers.org/clinvar/133063 ^@ NM_000540.2(RYR1):c.1422G>T (p.Gln474His) http://identifiers.org/clinvar/133645 ^@ NM_000489.4(ATRX):c.4374_4376dupGGA (p.Glu1464_Asp1465insGlu) http://identifiers.org/clinvar/133695 ^@ NM_017745.5(BCOR):c.3872A>G (p.Lys1291Arg) http://identifiers.org/clinvar/133748 ^@ NM_032043.2(BRIP1):c.1742G>A (p.Arg581Gln) http://identifiers.org/clinvar/133799 ^@ NM_032415.5(CARD11):c.2641A>G (p.Ser881Gly) http://identifiers.org/clinvar/133849 ^@ NM_004360.4(CDH1):c.2246G>A (p.Arg749Gln) http://identifiers.org/clinvar/133899 ^@ NM_015125.4(CIC):c.2318C>T (p.Pro773Leu) http://identifiers.org/clinvar/133949 ^@ NM_022148.3(CRLF2):c.637G>A (p.Glu213Lys) http://identifiers.org/clinvar/133999 ^@ NM_001077706.2(ECT2L):c.2191C>T (p.His731Tyr) http://identifiers.org/clinvar/134051 ^@ NM_001429.3(EP300):c.5669C>G (p.Thr1890Ser) http://identifiers.org/clinvar/134101 ^@ NM_000400.3(ERCC2):c.2083C>T (p.Arg695Cys) http://identifiers.org/clinvar/134151 ^@ NM_005236.2(ERCC4):c.1657A>G (p.Ile553Val) http://identifiers.org/clinvar/134201 ^@ NM_000127.2(EXT1):c.1430C>G (p.Pro477Arg) http://identifiers.org/clinvar/134251 ^@ NM_000135.2(FANCA):c.2101A>G (p.Lys701Glu) http://identifiers.org/clinvar/134302 ^@ NM_000136.2(FANCC):c.214G>A (p.Ala72Thr) http://identifiers.org/clinvar/134353 ^@ NM_022725.3(FANCF):c.179G>A (p.Arg60Gln) http://identifiers.org/clinvar/134403 ^@ NM_000142.4(FGFR3):c.1262G>A (p.Arg421Gln) http://identifiers.org/clinvar/134453 ^@ NM_004119.2(FLT3):c.1181A>G (p.Gln394Arg) http://identifiers.org/clinvar/134503 ^@ NM_000545.6(HNF1A):c.155_156delGCinsCT (p.Gly52Ala) http://identifiers.org/clinvar/134553 ^@ NM_004972.3(JAK2):c.2538G>C (p.Glu846Asp) http://identifiers.org/clinvar/134603 ^@ NM_002253.2(KDR):c.1416A>T (p.Gln472His) http://identifiers.org/clinvar/134654 ^@ NM_001127500.2(MET):c.1771C>T (p.Arg591Trp) http://identifiers.org/clinvar/134706 ^@ NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) http://identifiers.org/clinvar/134756 ^@ NM_170606.2(KMT2C):c.6896A>G (p.Tyr2299Cys) http://identifiers.org/clinvar/134806 ^@ NM_170606.2(KMT2C):c.11614G>A (p.Glu3872Lys) http://identifiers.org/clinvar/134859 ^@ NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) http://identifiers.org/clinvar/134910 ^@ NM_017617.4(NOTCH1):c.1862G>A (p.Arg621His) http://identifiers.org/clinvar/134960 ^@ NM_017617.4(NOTCH1):c.826G>A (p.Val276Met) http://identifiers.org/clinvar/135010 ^@ NM_018313.4(PBRM1):c.409G>T (p.Ala137Ser) http://identifiers.org/clinvar/135060 ^@ NM_000534.4(PMS1):c.2219C>T (p.Ser740Phe) http://identifiers.org/clinvar/135163 ^@ NM_004260.3(RECQL4):c.410C>T (p.Ala137Val) http://identifiers.org/clinvar/135193 ^@ NM_003000.2(SDHB):c.344G>A (p.Arg115Gln) http://identifiers.org/clinvar/135243 ^@ NM_012433.3(SF3B1):c.967A>G (p.Ile323Val) http://identifiers.org/clinvar/135294 ^@ NM_001127208.2(TET2):c.5885C>T (p.Pro1962Leu) http://identifiers.org/clinvar/135344 ^@ NM_006290.3(TNFAIP3):c.1208T>C (p.Leu403Ser) http://identifiers.org/clinvar/135395 ^@ NM_000369.2(TSHR):c.1721C>G (p.Thr574Ser) http://identifiers.org/clinvar/135445 ^@ NM_000553.4(WRN):c.514A>C (p.Thr172Pro) http://identifiers.org/clinvar/135495 ^@ NM_005089.3(ZRSR2):c.1307G>A (p.Gly436Asp) http://identifiers.org/clinvar/135545 ^@ NM_025133.4(FBXO11):c.1975+68delC http://identifiers.org/clinvar/135609 ^@ NM_002136.3(HNRNPA1):c.922T>G (p.Ser308Ala) http://identifiers.org/clinvar/135680 ^@ NM_000890.3(KCNJ5):c.470T>G (p.Ile157Ser) http://identifiers.org/clinvar/135731 ^@ NM_000051.3(ATM):c.1027_1030delGAAA http://identifiers.org/clinvar/135784 ^@ NM_000051.3(ATM):c.8716G>A (p.Val2906Ile) http://identifiers.org/clinvar/135840 ^@ NM_000179.2(MSH6):c.3172+7C>T http://identifiers.org/clinvar/135890 ^@ NM_000264.3(PTCH1):c.3387C>T (p.Gly1129=) http://identifiers.org/clinvar/135940 ^@ NM_000535.6(PMS2):c.1688_1689delGAinsAG (p.Arg563Gln) http://identifiers.org/clinvar/135992 ^@ NM_001128425.1(MUTYH):c.933+3A>C http://identifiers.org/clinvar/136042 ^@ NM_002485.4(NBN):c.2202A>G (p.Ala734=) http://identifiers.org/clinvar/136093 ^@ NM_007294.3(BRCA1):c.81T>C (p.Cys27=) http://identifiers.org/clinvar/186986 ^@ NM_001042492.2(NF1):c.7487C>G (p.Ser2496Cys) http://identifiers.org/clinvar/185295 ^@ NM_007294.3(BRCA1):c.4834C>T (p.Gln1612Ter) http://identifiers.org/clinvar/186786 ^@ NM_007294.3(BRCA1):c.4297A>G (p.Ile1433Val) http://identifiers.org/clinvar/187386 ^@ NM_007294.3(BRCA1):c.3478_3487delAAGGAAGATA (p.Lys1160Leufs) http://identifiers.org/clinvar/185345 ^@ NM_007294.3(BRCA1):c.1917G>A (p.Leu639=) http://identifiers.org/clinvar/187436 ^@ NM_007294.3(BRCA1):c.985A>T (p.Asn329Tyr) http://identifiers.org/clinvar/185545 ^@ NM_007294.3(BRCA1):c.778A>C (p.Lys260Gln) http://identifiers.org/clinvar/187586 ^@ NM_007294.3(BRCA1):c.258A>G (p.Leu86=) http://identifiers.org/clinvar/184345 ^@ NM_032043.2(BRIP1):c.2841G>A (p.Gln947=) http://identifiers.org/clinvar/185595 ^@ NM_032043.2(BRIP1):c.732C>A (p.Pro244=) http://identifiers.org/clinvar/184995 ^@ NM_000455.4(STK11):c.279C>G (p.Ala93=) http://identifiers.org/clinvar/184895 ^@ NM_000455.4(STK11):c.1191G>A (p.Ala397=) http://identifiers.org/clinvar/185645 ^@ NM_007194.3(CHEK2):c.1563delG (p.Arg523Valfs) http://identifiers.org/clinvar/187790 ^@ NM_005215.3(DCC):c.1409G>A (p.Gly470Asp) http://identifiers.org/clinvar/187869 ^@ NM_005957.4(MTHFR):c.202C>G (p.Arg68Gly) http://identifiers.org/clinvar/187919 ^@ NM_004409.4(DMPK):c.*224_*226[131] http://identifiers.org/clinvar/187969 ^@ NM_004409.4(DMPK):c.*224_*226[372] http://identifiers.org/clinvar/188019 ^@ NM_004409.4(DMPK):c.*224_*226[666] http://identifiers.org/clinvar/188171 ^@ NM_000051.3(ATM):c.38G>A (p.Arg13His) http://identifiers.org/clinvar/188120 ^@ NM_000218.2(KCNQ1):c.428C>T (p.Ser143Phe) http://identifiers.org/clinvar/188069 ^@ NM_015346.3(ZFYVE26):c.2074C>T (p.Leu692Phe) http://identifiers.org/clinvar/188222 ^@ NM_007294.3(BRCA1):c.4186-?_4357+?dup http://identifiers.org/clinvar/188689 ^@ NM_001001430.2(TNNT2):c.780+41C>G http://identifiers.org/clinvar/189720 ^@ NM_004992.3(MECP2):c.767_1175del409 (p.Lys256Serfs) http://identifiers.org/clinvar/189770 ^@ NM_001110792.1(MECP2):c.47_57delGCGAGGAGGAG (p.Gly16Glufs) http://identifiers.org/clinvar/189854 ^@ NM_001165963.1(SCN1A):c.4244_4245delTT (p.Phe1415Terfs) http://identifiers.org/clinvar/190004 ^@ NM_001165963.1(SCN1A):c.602+3A>C http://identifiers.org/clinvar/189904 ^@ NM_001165963.1(SCN1A):c.530G>T (p.Gly177Val) http://identifiers.org/clinvar/189954 ^@ NM_001165963.1(SCN1A):c.185delC (p.Pro62Hisfs) http://identifiers.org/clinvar/190125 ^@ NM_014444.2(TUBGCP4):c.1732-?_*544+?del http://identifiers.org/clinvar/190189 ^@ NM_001110556.1(FLNA):c.3529delG (p.Glu1177Argfs) http://identifiers.org/clinvar/190240 ^@ NM_001987.4(ETV6):c.1153-5_1153-1delAACAG http://identifiers.org/clinvar/190323 ^@ NM_001957.3(EDNRA):c.386A>T (p.Tyr129Phe) http://identifiers.org/clinvar/190376 ^@ NM_019105.6(TNXB):c.12514G>A (p.Asp4172Asn) http://identifiers.org/clinvar/190463 ^@ NM_000181.3(GUSB):c.307C>T (p.Arg103Trp) http://identifiers.org/clinvar/227315 ^@ NM_001277115.1(DNAH11):c.8647G>A (p.Glu2883Lys) http://identifiers.org/clinvar/227415 ^@ NM_024915.3(GRHL2):c.1348T>A (p.Ser450Thr) http://identifiers.org/clinvar/227214 ^@ NM_022124.5(CDH23):c.1080G>T (p.Leu360=) http://identifiers.org/clinvar/227064 ^@ NM_005411.4(SFTPA1):c.606C>T (p.Asp202=) http://identifiers.org/clinvar/226863 ^@ NM_001277269.1(OTOG):c.131G>A (p.Arg44Gln) http://identifiers.org/clinvar/226913 ^@ NM_001277269.1(OTOG):c.7971+11G>A http://identifiers.org/clinvar/229006 ^@ NM_000260.3(MYO7A):c.4844C>T (p.Pro1615Leu) http://identifiers.org/clinvar/227164 ^@ NM_005691.3(ABCC9):c.852T>A (p.Ser284=) http://identifiers.org/clinvar/226963 ^@ NM_173591.3(OTOGL):c.6028C>A (p.His2010Asn) http://identifiers.org/clinvar/228906 ^@ NM_000257.3(MYH7):c.299C>T (p.Ala100Val) http://identifiers.org/clinvar/227365 ^@ NM_004452.3(ESRRB):c.787+10T>A http://identifiers.org/clinvar/228956 ^@ NM_016239.3(MYO15A):c.4769A>G (p.Tyr1590Cys) http://identifiers.org/clinvar/226813 ^@ NM_003803.3(MYOM1):c.2507-16_2507-14delTGT http://identifiers.org/clinvar/227515 ^@ NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) http://identifiers.org/clinvar/226713 ^@ NM_144612.6(LOXHD1):c.2307C>T (p.Ser769=) http://identifiers.org/clinvar/230597 ^@ NM_001042492.2(NF1):c.31C>T (p.Gln11Ter) http://identifiers.org/clinvar/229897 ^@ NM_032043.2(BRIP1):c.2994G>C (p.Lys998Asn) http://identifiers.org/clinvar/232837 ^@ NM_007194.3(CHEK2):c.205C>T (p.Gln69Ter) http://identifiers.org/clinvar/233587 ^@ NM_001128425.1(MUTYH):c.724G>A (p.Val242Met) http://identifiers.org/clinvar/230447 ^@ NM_000465.3(BARD1):c.277C>T (p.Gln93Ter) http://identifiers.org/clinvar/231447 ^@ NM_000465.3(BARD1):c.57G>C (p.Glu19Asp) http://identifiers.org/clinvar/233637 ^@ NM_000179.2(MSH6):c.1537A>G (p.Ile513Val) http://identifiers.org/clinvar/230897 ^@ NM_000179.2(MSH6):c.3257C>G (p.Pro1086Arg) http://identifiers.org/clinvar/232687 ^@ NM_000179.2(MSH6):c.3846dupT (p.Ile1283Tyrfs) http://identifiers.org/clinvar/233387 ^@ NM_000249.3(MLH1):c.654C>T (p.Ser218=) http://identifiers.org/clinvar/232486 ^@ NM_000249.3(MLH1):c.1451A>G (p.Asp484Gly) http://identifiers.org/clinvar/230847 ^@ NM_000249.3(MLH1):c.2072T>C (p.Ile691Thr) http://identifiers.org/clinvar/229997 ^@ NM_000038.5(APC):c.481C>T (p.Gln161Ter) http://identifiers.org/clinvar/263520 ^@ NM_005902.3(SMAD3):c.1153A>G (p.Arg385Gly) http://identifiers.org/clinvar/263772 ^@ NM_002474.2(MYH11):c.3619G>A (p.Glu1207Lys) http://identifiers.org/clinvar/264222 ^@ NM_020433.4(JPH2):c.1990G>A (p.Ala664Thr) http://identifiers.org/clinvar/264339 ^@ NM_001456.3(FLNA):c.234C>A (p.Ile78=) http://identifiers.org/clinvar/265408 ^@ NM_000702.3(ATP1A2):c.2500C>T (p.Arg834Ter) http://identifiers.org/clinvar/265308 ^@ NM_001165963.1(SCN1A):c.707T>C (p.Ile236Thr) http://identifiers.org/clinvar/265000 ^@ NM_173076.2(ABCA12):c.1300C>T (p.Arg434Ter) http://identifiers.org/clinvar/265257 ^@ NM_001080517.2(SETD5):c.1333C>T (p.Arg445Ter) http://identifiers.org/clinvar/265103 ^@ NM_004415.3(DSP):c.2683T>C (p.Tyr895His) http://identifiers.org/clinvar/265358 ^@ NM_004333.4(BRAF):c.1593G>T (p.Trp531Cys) http://identifiers.org/clinvar/265559 ^@ NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) http://identifiers.org/clinvar/265710 ^@ NM_130799.2(MEN1):c.227C>A (p.Thr76Asn) http://identifiers.org/clinvar/265053 ^@ NM_000059.3(BRCA2):c.1185G>A (p.Trp395Ter) http://identifiers.org/clinvar/265153 ^@ NM_144997.5(FLCN):c.708delC (p.Asn236Lysfs) http://identifiers.org/clinvar/265458 ^@ NM_000382.2(ALDH3A2):c.191T>A (p.Val64Asp) http://identifiers.org/clinvar/265609 ^@ NM_000430.3(PAFAH1B1):c.826G>T (p.Glu276Ter) http://identifiers.org/clinvar/265204 ^@ NM_000214.2(JAG1):c.3048+1G>A http://identifiers.org/clinvar/265659 ^@ NM_001184880.1(PCDH19):c.646_655delCCGCCGCGCC (p.Pro216Trpfs) http://identifiers.org/clinvar/265508 ^@ NM_007075.3(WDR45):c.830+1G>A http://identifiers.org/clinvar/265798 ^@ NM_001711.5(BGN):c.238G>A (p.Gly80Ser) http://identifiers.org/clinvar/265948 ^@ NM_174936.3(PCSK9):c.1681+64G>A http://identifiers.org/clinvar/265898 ^@ NM_000527.4(LDLR):c.314-50T>C http://identifiers.org/clinvar/266003 ^@ NM_000495.4(COL4A5):c.488T>C (p.Met163Thr) http://identifiers.org/clinvar/266080 ^@ NM_001408.2(CELSR2):c.8235_8246dupAGAAGAGGAGGA (p.Glu2752_Ala2753insGluGluGluGlu) http://identifiers.org/clinvar/266830 ^@ NM_000059.3(BRCA2):c.4741delGinsAA (p.Glu1581Lysfs) http://identifiers.org/clinvar/266880 ^@ NM_000059.3(BRCA2):c.5550_5566del17insTTGGCT (p.Lys1850Asnfs) http://identifiers.org/clinvar/266930 ^@ NM_000059.3(BRCA2):c.6225dupA (p.Val2076Serfs) http://identifiers.org/clinvar/266980 ^@ NM_000059.3(BRCA2):c.7006delC (p.Arg2336Alafs) http://identifiers.org/clinvar/266530 ^@ NM_007294.3(BRCA1):c.5163_5164insC (p.Ser1722Leufs) http://identifiers.org/clinvar/266480 ^@ NM_007294.3(BRCA1):c.4566C>A (p.Tyr1522Ter) http://identifiers.org/clinvar/266430 ^@ NM_007294.3(BRCA1):c.4033G>T (p.Glu1345Ter) http://identifiers.org/clinvar/266380 ^@ NM_007294.3(BRCA1):c.3512delA (p.Lys1171Argfs) http://identifiers.org/clinvar/266330 ^@ NM_007294.3(BRCA1):c.3024dupG (p.Ser1009Valfs) http://identifiers.org/clinvar/266280 ^@ NM_007294.3(BRCA1):c.2552_2553delAA (p.Glu851Alafs) http://identifiers.org/clinvar/266230 ^@ NM_007294.3(BRCA1):c.2185_2189delGAAGA (p.Glu729Lysfs) http://identifiers.org/clinvar/266180 ^@ NM_007294.3(BRCA1):c.1669delA (p.Thr557Glnfs) http://identifiers.org/clinvar/266130 ^@ NM_007294.3(BRCA1):c.1016_1017insC (p.Lys339Asnfs) http://identifiers.org/clinvar/268006 ^@ 46;XY;t(6:11)(p12.3;p14.2)dn http://identifiers.org/clinvar/268059 ^@ NC_000007.13:g.(?_72722981)_(74217390_?)del http://identifiers.org/clinvar/268122 ^@ NM_018263.5(ASXL2):c.2424delC (p.Thr809Profs) http://identifiers.org/clinvar/268190 ^@ NC_000003.11:g.(?_176895307)_(177090616_?)dup http://identifiers.org/clinvar/279602 ^@ NM_024675.3(PALB2):c.2756T>G (p.Val919Gly) http://identifiers.org/clinvar/280533 ^@ NM_018136.4(ASPM):c.3428dupT (p.Leu1144Valfs) http://identifiers.org/clinvar/290909 ^@ NM_004006.2(DMD):c.358-1G>A http://identifiers.org/clinvar/290959 ^@ NM_001083614.1(EARS2):c.280A>G (p.Met94Val) http://identifiers.org/clinvar/291009 ^@ NM_000280.4(PAX6):c.577A>G (p.Asn193Asp) http://identifiers.org/clinvar/291059 ^@ NM_000036.2(AMPD1):c.612T>A (p.Gly204=) http://identifiers.org/clinvar/291109 ^@ NM_001130987.1(DYSF):c.2424G>T (p.Leu808=) http://identifiers.org/clinvar/291159 ^@ NM_005005.2(NDUFB9):c.530G>A (p.Arg177Gln) http://identifiers.org/clinvar/291210 ^@ NM_000023.3(SGCA):c.183dupC (p.Tyr62Leufs) http://identifiers.org/clinvar/291260 ^@ NM_000271.4(NPC1):c.2465A>G (p.Lys822Arg) http://identifiers.org/clinvar/291375 ^@ NM_001918.3(DBT):c.*9082C>T http://identifiers.org/clinvar/291617 ^@ NM_015074.3(KIF1B):c.*2032T>A http://identifiers.org/clinvar/291767 ^@ NM_007375.3(TARDBP):c.*2538delC http://identifiers.org/clinvar/291667 ^@ NM_015074.3(KIF1B):c.*4697A>G http://identifiers.org/clinvar/291717 ^@ NM_013296.4(GPSM2):c.*468T>G http://identifiers.org/clinvar/291917 ^@ NM_003051.3(SLC16A1):c.-248G>T http://identifiers.org/clinvar/291817 ^@ NM_013319.2(UBIAD1):c.-104G>A http://identifiers.org/clinvar/291867 ^@ NM_003051.3(SLC16A1):c.489C>A (p.Pro163=) http://identifiers.org/clinvar/292217 ^@ NM_005957.4(MTHFR):c.*732G>A http://identifiers.org/clinvar/292067 ^@ NM_138959.2(VANGL1):c.*3496T>A http://identifiers.org/clinvar/291967 ^@ NM_002524.4(NRAS):c.*872C>T http://identifiers.org/clinvar/292017 ^@ NM_138959.2(VANGL1):c.*217C>T http://identifiers.org/clinvar/292117 ^@ NM_001232.3(CASQ2):c.*1017dupA http://identifiers.org/clinvar/292167 ^@ NM_005957.4(MTHFR):c.*4058_*4061delCAAA http://identifiers.org/clinvar/293156 ^@ NM_000702.3(ATP1A2):c.*910A>G http://identifiers.org/clinvar/293206 ^@ NM_002857.3(PEX19):c.*1450T>A http://identifiers.org/clinvar/293256 ^@ NM_000309.3(PPOX):c.936G>A (p.Val312=) http://identifiers.org/clinvar/337068 ^@ NM_004082.4(DCTN1):c.3759G>A (p.Ala1253=) http://identifiers.org/clinvar/345897 ^@ NM_002222.5(ITPR1):c.*47G>C http://identifiers.org/clinvar/337118 ^@ NM_013247.4(HTRA2):c.-402G>A http://identifiers.org/clinvar/346097 ^@ NM_153281.1(HYAL1):c.-272C>T http://identifiers.org/clinvar/346197 ^@ NM_052859.3(RFT1):c.465A>C (p.Ala155=) http://identifiers.org/clinvar/345447 ^@ NM_024513.3(FYCO1):c.*2889C>A http://identifiers.org/clinvar/345497 ^@ NM_024513.3(FYCO1):c.4042A>G (p.Ile1348Val) http://identifiers.org/clinvar/342448 ^@ NM_000551.3(VHL):c.*1780C>G http://identifiers.org/clinvar/342598 ^@ NM_000796.5(DRD3):c.720A= (p.Gln240=) http://identifiers.org/clinvar/342798 ^@ NM_000388.3(CASR):c.1008G>C (p.Lys336Asn) http://identifiers.org/clinvar/345997 ^@ NM_002292.3(LAMB2):c.2720+13C>A http://identifiers.org/clinvar/342748 ^@ NM_000187.3(HGD):c.474G>A (p.Pro158=) http://identifiers.org/clinvar/342998 ^@ NM_000373.3(UMPS):c.*3152G>A http://identifiers.org/clinvar/346447 ^@ NM_198859.3(PRICKLE2):c.*1970T>C http://identifiers.org/clinvar/361952 ^@ NM_003235.4(TG):c.3933G>A (p.Ala1311=) http://identifiers.org/clinvar/362002 ^@ NM_003235.4(TG):c.7847A>G (p.Asn2616Ser) http://identifiers.org/clinvar/358253 ^@ NM_014165.3(NDUFAF4):c.*1203A>G http://identifiers.org/clinvar/362052 ^@ NM_031466.7(TRAPPC9):c.*532G>A http://identifiers.org/clinvar/362102 ^@ NM_020427.2(SLURP1):c.-7C>T http://identifiers.org/clinvar/362302 ^@ NM_006765.3(TUSC3):c.-150C>T http://identifiers.org/clinvar/358653 ^@ NM_014491.3(FOXP2):c.*2253A>T http://identifiers.org/clinvar/358703 ^@ NM_001127500.2(MET):c.*422T>A http://identifiers.org/clinvar/358853 ^@ NM_000230.2(LEP):c.*2799C>T http://identifiers.org/clinvar/358903 ^@ NM_018718.2(CEP41):c.*3765G>T http://identifiers.org/clinvar/359053 ^@ NM_018238.3(AGK):c.-88G>C http://identifiers.org/clinvar/359103 ^@ NM_000083.2(CLCN1):c.651C>T (p.Val217=) http://identifiers.org/clinvar/359203 ^@ NM_014141.5(CNTNAP2):c.*440C>T http://identifiers.org/clinvar/359303 ^@ NM_000238.3(KCNH2):c.3215C>T (p.Thr1072Met) http://identifiers.org/clinvar/359353 ^@ NM_016203.3(PRKAG2):c.-40C>T http://identifiers.org/clinvar/363341 ^@ NM_017813.4(IMPAD1):c.*4496C>T http://identifiers.org/clinvar/363791 ^@ NM_000318.2(PEX2):c.*1696C>T http://identifiers.org/clinvar/363841 ^@ NM_000067.2(CA2):c.*465A>C http://identifiers.org/clinvar/363991 ^@ NM_177965.3(C8orf37):c.*1629T>G http://identifiers.org/clinvar/361042 ^@ NM_017890.4(VPS13B):c.1646G>A (p.Gly549Asp) http://identifiers.org/clinvar/364291 ^@ NM_000035.3(ALDOB):c.*897G>A http://identifiers.org/clinvar/364341 ^@ NM_005502.3(ABCA1):c.*1896G>A http://identifiers.org/clinvar/360442 ^@ NM_000790.3(DDC):c.96C>T (p.Asp32=) http://identifiers.org/clinvar/360842 ^@ NM_005751.4(AKAP9):c.9170C>A (p.Ala3057Glu) http://identifiers.org/clinvar/360892 ^@ NM_194456.1(KRIT1):c.-43C>T http://identifiers.org/clinvar/360992 ^@ NM_003919.2(SGCE):c.556G>A (p.Ala186Thr) http://identifiers.org/clinvar/361142 ^@ NM_015713.4(RRM2B):c.*2666T>C http://identifiers.org/clinvar/361242 ^@ NM_178857.5(RP1L1):c.5666A>T (p.Asp1889Val) http://identifiers.org/clinvar/361292 ^@ NM_178857.5(RP1L1):c.4019A>G (p.Glu1340Gly) http://identifiers.org/clinvar/356914 ^@ NM_006502.2(POLH):c.1896A>G (p.Gln632=) http://identifiers.org/clinvar/361602 ^@ NM_014112.4(TRPS1):c.*381A>G http://identifiers.org/clinvar/365830 ^@ NM_052813.4(CARD9):c.*139G>A http://identifiers.org/clinvar/356864 ^@ NM_014780.4(CUL7):c.-298C>G http://identifiers.org/clinvar/361702 ^@ NM_002546.3(TNFRSF11B):c.-223C>T http://identifiers.org/clinvar/357064 ^@ NM_020745.3(AARS2):c.2007+8C>T http://identifiers.org/clinvar/361852 ^@ NM_004519.3(KCNQ3):c.*1384G>A http://identifiers.org/clinvar/361902 ^@ NM_012472.5(LRRC6):c.1109C>G (p.Thr370Arg) http://identifiers.org/clinvar/366631 ^@ NM_001497.3(B4GALT1):c.*1087dupC http://identifiers.org/clinvar/311431 ^@ NM_002010.2(FGF9):c.*266G>A http://identifiers.org/clinvar/311531 ^@ NM_014363.5(SACS):c.6634A>G (p.Thr2212Ala) http://identifiers.org/clinvar/366881 ^@ NM_203447.3(DOCK8):c.2527G>A (p.Gly843Arg) http://identifiers.org/clinvar/366931 ^@ NM_001042413.1(GLIS3):c.*1744A>G http://identifiers.org/clinvar/367031 ^@ NM_004170.5(SLC1A1):c.-93G>A http://identifiers.org/clinvar/311981 ^@ NM_207361.5(FREM2):c.4730T>C (p.Ile1577Thr) http://identifiers.org/clinvar/312031 ^@ NM_207361.5(FREM2):c.8509C>T (p.Pro2837Ser) http://identifiers.org/clinvar/312081 ^@ NM_207361.5(FREM2):c.*3645G>T http://identifiers.org/clinvar/304222 ^@ NM_000218.2(KCNQ1):c.1393+21538C>T http://identifiers.org/clinvar/312920 ^@ NM_000257.3(MYH7):c.-39C>A http://identifiers.org/clinvar/313070 ^@ NM_025152.2(NUBPL):c.*1776G>A http://identifiers.org/clinvar/304522 ^@ NM_000448.2(RAG1):c.*1130A>G http://identifiers.org/clinvar/313120 ^@ NM_020529.2(NFKBIA):c.-87_-80dupGTCCCGCC http://identifiers.org/clinvar/304772 ^@ NM_018389.4(SLC35C1):c.*1647T>C http://identifiers.org/clinvar/313420 ^@ NM_172337.2(OTX2):c.249+11T>C http://identifiers.org/clinvar/304822 ^@ NM_000506.4(F2):c.1815T>C (p.His605=) http://identifiers.org/clinvar/313470 ^@ NM_005982.3(SIX1):c.-137C>T http://identifiers.org/clinvar/298944 ^@ NM_004132.4(HABP2):c.*1115C>A http://identifiers.org/clinvar/313620 ^@ NM_182914.2(SYNE2):c.16374A>T (p.Gln5458His) http://identifiers.org/clinvar/313670 ^@ NM_182914.2(SYNE2):c.20702C>A (p.Thr6901Asn) http://identifiers.org/clinvar/299044 ^@ NM_002775.4(HTRA1):c.59C>T (p.Ala20Val) http://identifiers.org/clinvar/313820 ^@ NM_002382.4(MAX):c.-18C>T http://identifiers.org/clinvar/313920 ^@ NM_015346.3(ZFYVE26):c.827G>A (p.Gly276Asp) http://identifiers.org/clinvar/305224 ^@ NM_144585.3(SLC22A12):c.-234C>T http://identifiers.org/clinvar/305274 ^@ NM_005609.3(PYGM):c.1239+8C>T http://identifiers.org/clinvar/314170 ^@ NM_005589.3(ALDH6A1):c.1479A>G (p.Gly493=) http://identifiers.org/clinvar/305374 ^@ NM_016938.4(EFEMP2):c.*165dupG http://identifiers.org/clinvar/314220 ^@ NM_182894.2(VSX2):c.*1212G>A http://identifiers.org/clinvar/314270 ^@ NM_000428.2(LTBP2):c.4821G>A (p.Thr1607=) http://identifiers.org/clinvar/305524 ^@ NM_006946.2(SPTBN2):c.6940-11T>C http://identifiers.org/clinvar/300144 ^@ NM_000242.2(MBL2):c.*289C>T http://identifiers.org/clinvar/299644 ^@ NM_017433.4(MYO3A):c.152T>A (p.Ile51Asn) http://identifiers.org/clinvar/299694 ^@ NM_014317.4(PDSS1):c.129+7T>C http://identifiers.org/clinvar/300244 ^@ NM_000417.2(IL2RA):c.*410_*411delCC http://identifiers.org/clinvar/300294 ^@ NM_018055.4(NODAL):c.*479C>T http://identifiers.org/clinvar/300344 ^@ NM_000281.3(PCBD1):c.*114G>A http://identifiers.org/clinvar/299794 ^@ NM_032844.4(MASTL):c.1415A>G (p.Glu472Gly) http://identifiers.org/clinvar/300544 ^@ NM_002778.3(PSAP):c.-56A>G http://identifiers.org/clinvar/299944 ^@ NM_020975.4(RET):c.*1797T>G http://identifiers.org/clinvar/317649 ^@ NM_000875.4(IGF1R):c.*6746T>G http://identifiers.org/clinvar/311081 ^@ NM_001845.5(COL4A1):c.329T>C (p.Ile110Thr) http://identifiers.org/clinvar/329632 ^@ NM_025136.3(OPA3):c.*3038G>A http://identifiers.org/clinvar/329682 ^@ NM_025136.3(OPA3):c.*152G>A http://identifiers.org/clinvar/318151 ^@ NM_001143979.1(NDE1):c.*1808T>G http://identifiers.org/clinvar/311481 ^@ NM_000231.2(SGCG):c.703C>T (p.Leu235Phe) http://identifiers.org/clinvar/311581 ^@ NM_014363.5(SACS):c.-470C>T http://identifiers.org/clinvar/329932 ^@ NM_024729.3(MYH14):c.3581C>T (p.Thr1194Met) http://identifiers.org/clinvar/318551 ^@ NM_001083614.1(EARS2):c.874G>A (p.Val292Ile) http://identifiers.org/clinvar/311831 ^@ NM_001127217.2(SMAD9):c.*3188A>C http://identifiers.org/clinvar/311881 ^@ NM_001127217.2(SMAD9):c.*557T>C http://identifiers.org/clinvar/318751 ^@ NM_003321.4(TUFM):c.568C>T (p.Gln190Ter) http://identifiers.org/clinvar/319001 ^@ NM_004960.3(FUS):c.*614dupT http://identifiers.org/clinvar/319101 ^@ NM_000243.2(MEFV):c.*466_*468delTTT http://identifiers.org/clinvar/319151 ^@ NM_032444.2(SLX4):c.4546G>A (p.Gly1516Arg) http://identifiers.org/clinvar/337968 ^@ NM_014588.5(VSX1):c.281C>A (p.Ala94Glu) http://identifiers.org/clinvar/319451 ^@ NM_022162.2(NOD2):c.1833C>T (p.Ala611=) http://identifiers.org/clinvar/338118 ^@ NM_015338.5(ASXL1):c.4099G>A (p.Val1367Ile) http://identifiers.org/clinvar/338168 ^@ NM_006892.3(DNMT3B):c.1413C>T (p.Asp471=) http://identifiers.org/clinvar/311231 ^@ NM_000131.4(F7):c.*275G>A http://identifiers.org/clinvar/311281 ^@ NM_000504.3(F10):c.1226C>T (p.Thr409Ile) http://identifiers.org/clinvar/311381 ^@ NM_006783.4(GJB6):c.405G>A (p.Thr135=) http://identifiers.org/clinvar/338568 ^@ NM_001250.5(CD40):c.-41C>T http://identifiers.org/clinvar/338668 ^@ NM_000311.4(PRNP):c.*994C>T http://identifiers.org/clinvar/311631 ^@ NM_018451.4(CENPJ):c.425T>C (p.Leu142Pro) http://identifiers.org/clinvar/338869 ^@ NM_002591.3(PCK1):c.102C>T (p.Asn34=) http://identifiers.org/clinvar/313220 ^@ NM_020937.3(FANCM):c.4627C>T (p.Leu1543Phe) http://identifiers.org/clinvar/311731 ^@ NM_004795.3(KL):c.*1664T>C http://identifiers.org/clinvar/311781 ^@ NM_000538.3(RFXAP):c.-101T>G http://identifiers.org/clinvar/313320 ^@ NM_002863.4(PYGL):c.2215C>A (p.Leu739Met) http://identifiers.org/clinvar/311931 ^@ NM_207361.5(FREM2):c.-193T>C http://identifiers.org/clinvar/339608 ^@ NM_000933.3(PLCB4):c.*1003A>C http://identifiers.org/clinvar/339708 ^@ NM_000628.4(IL10RB):c.*616A>G http://identifiers.org/clinvar/313870 ^@ NM_015346.3(ZFYVE26):c.*42G>C http://identifiers.org/clinvar/339858 ^@ NM_001754.4(RUNX1):c.*682dupT http://identifiers.org/clinvar/313970 ^@ NM_000021.3(PSEN1):c.*1690T>C http://identifiers.org/clinvar/340158 ^@ NM_000211.4(ITGB2):c.1125C>T (p.Pro375=) http://identifiers.org/clinvar/321605 ^@ NM_000833.4(GRIN2A):c.3246C>T (p.Thr1082=) http://identifiers.org/clinvar/321655 ^@ NM_002472.2(MYH8):c.578G>A (p.Arg193His) http://identifiers.org/clinvar/321805 ^@ NM_001303.3(COX10):c.-90G>T http://identifiers.org/clinvar/340358 ^@ NM_001848.2(COL6A1):c.*985C>T http://identifiers.org/clinvar/326493 ^@ NM_001943.4(DSG2):c.*131C>T http://identifiers.org/clinvar/328732 ^@ NM_001031726.3(C19orf12):c.24-12T>A http://identifiers.org/clinvar/328782 ^@ NM_000285.3(PEPD):c.*40T>A http://identifiers.org/clinvar/328882 ^@ NM_004646.3(NPHS1):c.151C>T (p.Leu51=) http://identifiers.org/clinvar/327343 ^@ NM_000140.3(FECH):c.*4363G>A http://identifiers.org/clinvar/329132 ^@ NM_000540.2(RYR1):c.13807G>C (p.Gly4603Arg) http://identifiers.org/clinvar/329232 ^@ NM_016941.3(DLL3):c.618C>T (p.Pro206=) http://identifiers.org/clinvar/329282 ^@ NM_181882.2(PRX):c.683G>A (p.Arg228His) http://identifiers.org/clinvar/329332 ^@ NM_003573.2(LTBP4):c.*121C>G http://identifiers.org/clinvar/327743 ^@ NM_003839.3(TNFRSF11A):c.*320delG http://identifiers.org/clinvar/328682 ^@ NM_001031726.3(C19orf12):c.*2526delT http://identifiers.org/clinvar/328832 ^@ NM_001037.4(SCN1B):c.-88A>C http://identifiers.org/clinvar/329032 ^@ NM_000540.2(RYR1):c.4747C>T (p.Arg1583Cys) http://identifiers.org/clinvar/329082 ^@ NM_000540.2(RYR1):c.8686G>A (p.Ala2896Thr) http://identifiers.org/clinvar/338068 ^@ NM_015338.5(ASXL1):c.-159G>C http://identifiers.org/clinvar/329182 ^@ NM_033064.4(ATCAY):c.*1427A>T http://identifiers.org/clinvar/338268 ^@ NM_000687.3(AHCY):c.1188A>T (p.Glu396Asp) http://identifiers.org/clinvar/329382 ^@ NM_001022.3(RPS19):c.-234G>A http://identifiers.org/clinvar/329432 ^@ NM_152296.4(ATP1A3):c.147T>C (p.Cys49=) http://identifiers.org/clinvar/338368 ^@ NM_153638.3(PANK2):c.*376A>G http://identifiers.org/clinvar/338468 ^@ NM_000457.4(HNF4A):c.*2193T>C http://identifiers.org/clinvar/329532 ^@ NM_000400.3(ERCC2):c.5+6A>C http://identifiers.org/clinvar/338618 ^@ NM_030777.3(SLC2A10):c.*1000C>T http://identifiers.org/clinvar/329832 ^@ NM_002103.4(GYS1):c.-26C>T http://identifiers.org/clinvar/339558 ^@ NM_000933.3(PLCB4):c.854-13C>T http://identifiers.org/clinvar/337718 ^@ NM_000214.2(JAG1):c.*1493A>G http://identifiers.org/clinvar/337768 ^@ NM_000214.2(JAG1):c.-364T>G http://identifiers.org/clinvar/337818 ^@ NM_024411.4(PDYN):c.*827A>G http://identifiers.org/clinvar/337868 ^@ NM_000361.2(THBD):c.*520C>G http://identifiers.org/clinvar/340058 ^@ NM_024022.2(TMPRSS3):c.1195-8T>C http://identifiers.org/clinvar/337918 ^@ NM_198994.2(TGM6):c.992A>G (p.Asn331Ser) http://identifiers.org/clinvar/340208 ^@ NM_130445.3(COL18A1):c.828G>A (p.Ala276=) http://identifiers.org/clinvar/340258 ^@ NM_130445.3(COL18A1):c.2815G>A (p.Gly939Ser) http://identifiers.org/clinvar/340308 ^@ NM_001848.2(COL6A1):c.764dupC (p.Arg256Lysfs) http://identifiers.org/clinvar/338218 ^@ NM_003098.2(SNTA1):c.514G>A (p.Val172Ile) http://identifiers.org/clinvar/338418 ^@ NM_005461.4(MAFB):c.-206T>G http://identifiers.org/clinvar/340559 ^@ NM_014339.6(IL17RA):c.-39C>T http://identifiers.org/clinvar/338518 ^@ NM_000308.3(CTSA):c.-234C>G http://identifiers.org/clinvar/340659 ^@ NM_014339.6(IL17RA):c.*2566C>T http://identifiers.org/clinvar/340759 ^@ NM_017929.5(PEX26):c.*114C>T http://identifiers.org/clinvar/338718 ^@ NM_006420.2(ARFGEF2):c.*1016G>A http://identifiers.org/clinvar/339758 ^@ NM_000219.5(KCNE1):c.*817A>G http://identifiers.org/clinvar/339808 ^@ NM_001754.4(RUNX1):c.*3417A>G http://identifiers.org/clinvar/339908 ^@ NM_144492.2(CLDN14):c.-835G>T http://identifiers.org/clinvar/339958 ^@ NM_000411.6(HLCS):c.1977C>T (p.Val659=) http://identifiers.org/clinvar/340008 ^@ NM_020639.2(RIPK4):c.*60G>A http://identifiers.org/clinvar/389549 ^@ NM_017617.4(NOTCH1):c.5733C>T (p.Ser1911=) http://identifiers.org/clinvar/390149 ^@ NM_017617.4(NOTCH1):c.5018+14G>A http://identifiers.org/clinvar/387710 ^@ NM_020987.4(ANK3):c.11990T>C (p.Ile3997Thr) http://identifiers.org/clinvar/392338 ^@ NM_022124.5(CDH23):c.7465C>G (p.Arg2489Gly) http://identifiers.org/clinvar/389499 ^@ NM_020822.2(KCNT1):c.3162C>T (p.His1054=) http://identifiers.org/clinvar/385821 ^@ NM_016203.3(PRKAG2):c.894C>G (p.Ala298=) http://identifiers.org/clinvar/383419 ^@ NM_005431.1(XRCC2):c.456A>C (p.Ser152=) http://identifiers.org/clinvar/386560 ^@ NM_000264.3(PTCH1):c.36C>T (p.Asp12=) http://identifiers.org/clinvar/377913 ^@ NM_002047.3(GARS):c.2190G>A (p.Glu730=) http://identifiers.org/clinvar/390349 ^@ NM_004281.3(BAG3):c.897C>T (p.Val299=) http://identifiers.org/clinvar/391388 ^@ NM_000077.4(CDKN2A):c.441C>A (p.Ala147=) http://identifiers.org/clinvar/393138 ^@ NM_000141.4(FGFR2):c.1623T>G (p.Ile541Met) http://identifiers.org/clinvar/387910 ^@ NM_024740.2(ALG9):c.1365A>C (p.Arg455=) http://identifiers.org/clinvar/378013 ^@ NM_000218.2(KCNQ1):c.387-18C>T http://identifiers.org/clinvar/388260 ^@ NM_033087.3(ALG2):c.288C>T (p.Phe96=) http://identifiers.org/clinvar/386460 ^@ NM_007078.2(LDB3):c.1677-19C>T http://identifiers.org/clinvar/378265 ^@ NM_006393.2(NEBL):c.1962+7A>G http://identifiers.org/clinvar/389599 ^@ NM_000051.3(ATM):c.-42C>T http://identifiers.org/clinvar/385721 ^@ NM_030962.3(SBF2):c.5034T>C (p.Asp1678=) http://identifiers.org/clinvar/386660 ^@ NM_006158.4(NEFL):c.584C>T (p.Ala195Val) http://identifiers.org/clinvar/377563 ^@ NM_004329.2(BMPR1A):c.-147G>A http://identifiers.org/clinvar/380363 ^@ NM_000051.3(ATM):c.1898+9T>C http://identifiers.org/clinvar/383319 ^@ NM_000051.3(ATM):c.3777G>A (p.Leu1259=) http://identifiers.org/clinvar/377513 ^@ NM_000051.3(ATM):c.4611+9C>G http://identifiers.org/clinvar/393088 ^@ NM_001885.2(CRYAB):c.367C>T (p.Arg123Trp) http://identifiers.org/clinvar/387360 ^@ NM_012062.4(DNM1L):c.1535T>C (p.Ile512Thr) http://identifiers.org/clinvar/380013 ^@ NM_001278503.1(STT3A):c.88+7G>T http://identifiers.org/clinvar/391488 ^@ NM_001130438.2(SPTAN1):c.6610C>T (p.Arg2204Trp) http://identifiers.org/clinvar/378065 ^@ NM_006059.3(LAMC3):c.558C>T (p.Arg186=) http://identifiers.org/clinvar/391788 ^@ NM_006121.3(KRT1):c.1434G>C (p.Glu478Asp) http://identifiers.org/clinvar/386910 ^@ NM_004517.3(ILK):c.89+3G>A http://identifiers.org/clinvar/389649 ^@ NM_015531.5(C2CD3):c.330G>A (p.Met110Ile) http://identifiers.org/clinvar/380213 ^@ NM_006231.3(POLE):c.4444+4T>A http://identifiers.org/clinvar/380263 ^@ NM_000059.3(BRCA2):c.4557T>C (p.Pro1519=) http://identifiers.org/clinvar/383168 ^@ NM_022489.3(INF2):c.1452T>C (p.Cys484=) http://identifiers.org/clinvar/377613 ^@ NM_000719.6(CACNA1C):c.5199G>A (p.Ala1733=) http://identifiers.org/clinvar/378369 ^@ NM_004572.3(PKP2):c.2300-19T>A http://identifiers.org/clinvar/383269 ^@ NM_000719.6(CACNA1C):c.3978C>T (p.Thr1326=) http://identifiers.org/clinvar/391538 ^@ NM_013382.5(POMT2):c.2033-20G>A http://identifiers.org/clinvar/392488 ^@ NM_000136.2(FANCC):c.165+10G>A http://identifiers.org/clinvar/392388 ^@ NM_016417.2(GLRX5):c.81G>C (p.Pro27=) http://identifiers.org/clinvar/377863 ^@ NM_000138.4(FBN1):c.8232G>A (p.Gln2744=) http://identifiers.org/clinvar/387610 ^@ NM_032578.3(MYPN):c.*5G>A http://identifiers.org/clinvar/387110 ^@ NM_000059.3(BRCA2):c.8754+18C>G http://identifiers.org/clinvar/378215 ^@ NM_000257.3(MYH7):c.5655G>A (p.Ala1885=) http://identifiers.org/clinvar/392738 ^@ NM_000051.3(ATM):c.6453-5A>G http://identifiers.org/clinvar/389449 ^@ NM_001271.3(CHD2):c.4906+20T>C http://identifiers.org/clinvar/377763 ^@ NM_001909.4(CTSD):c.*14C>T http://identifiers.org/clinvar/387210 ^@ NM_002474.2(MYH11):c.4117-14C>T http://identifiers.org/clinvar/392438 ^@ NM_000548.4(TSC2):c.4006-12G>A http://identifiers.org/clinvar/379963 ^@ NM_001160147.1(DDHD1):c.1779T>A (p.Thr593=) http://identifiers.org/clinvar/388410 ^@ NM_002225.3(IVD):c.1148-8G>C http://identifiers.org/clinvar/391338 ^@ NM_006231.3(POLE):c.2569T>C (p.Leu857=) http://identifiers.org/clinvar/42 ^@ NM_001083961.1(WDR62):c.671G>C (p.Trp224Ser) http://identifiers.org/clinvar/186 ^@ NM_001385.2(DPYS):c.1078T>C (p.Trp360Arg) http://identifiers.org/clinvar/195 ^@ NM_001080476.2(GRXCR1):c.229C>T (p.Gln77Ter) http://identifiers.org/clinvar/213 ^@ NM_000285.3(PEPD):c.1342G>A (p.Gly448Arg) http://identifiers.org/clinvar/346 ^@ NM_001042492.2(NF1):c.1541_1542delAG (p.Gln514Argfs) http://identifiers.org/clinvar/588 ^@ NM_000277.1(PAH):c.727C>T (p.Arg243Ter) http://identifiers.org/clinvar/597 ^@ NM_000277.1(PAH):c.1092_1094delTCT (p.Leu365del) http://identifiers.org/clinvar/661 ^@ NM_000312.3(PROC):c.629C>T (p.Pro210Leu) http://identifiers.org/clinvar/742 ^@ CC2D2A, 1762C-T http://identifiers.org/clinvar/751 ^@ ZFYVE26, 70-BP DEL, NT6702 http://identifiers.org/clinvar/760 ^@ TRAPPC9, 4-BP DEL, 2311TGTT http://identifiers.org/clinvar/810 ^@ NM_000038.5(APC):c.2805C>A (p.Tyr935Ter) http://identifiers.org/clinvar/1116 ^@ NM_025137.3(SPG11):c.5623C>T (p.Gln1875Ter) http://identifiers.org/clinvar/1134 ^@ NM_022369.3(STRA6):c.147delC (p.Gly50Alafs) http://identifiers.org/clinvar/1166 ^@ NM_000505.3(F12):c.1681-1G>A http://identifiers.org/clinvar/1210 ^@ NM_000429.2(MAT1A):c.790C>T (p.Arg264Cys) http://identifiers.org/clinvar/1261 ^@ NM_032193.3(RNASEH2C):c.428A>T (p.Lys143Ile) http://identifiers.org/clinvar/1306 ^@ NM_001174089.1(SLC4A11):c.1343G>A (p.Gly448Asp) http://identifiers.org/clinvar/1351 ^@ NM_001199922.1(SIAE):c.482G>T (p.Cys161Phe) http://identifiers.org/clinvar/1398 ^@ NM_018418.4(SPATA7):c.1395delA (p.Gln465Hisfs) http://identifiers.org/clinvar/1442 ^@ HMBS, EX12DEL http://identifiers.org/clinvar/1488 ^@ NM_178170.2(NEK8):c.1273C>T (p.His425Tyr) http://identifiers.org/clinvar/1533 ^@ NM_000237.2(LPL):c.548A>G (p.Asp183Gly) http://identifiers.org/clinvar/1579 ^@ NM_052910.2(SLITRK1):c.*689G>A http://identifiers.org/clinvar/1624 ^@ NM_000018.3(ACADVL):c.343delG (p.Glu115Lysfs) http://identifiers.org/clinvar/1673 ^@ NM_000785.3(CYP27B1):c.1027C>T (p.Leu343Phe) http://identifiers.org/clinvar/1718 ^@ NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) http://identifiers.org/clinvar/1767 ^@ MSH2, EX1-6 DEL http://identifiers.org/clinvar/1814 ^@ NM_152594.2(SPRED1):c.637C>T (p.Gln213Ter) http://identifiers.org/clinvar/1995 ^@ NM_145691.3(ATPAF2):c.280T>A (p.Trp94Arg) http://identifiers.org/clinvar/2177 ^@ NM_022370.3(ROBO3):c.955G>A (p.Glu319Lys) http://identifiers.org/clinvar/2221 ^@ NM_000551.3(VHL):c.405A>C (p.Leu135Phe) http://identifiers.org/clinvar/2267 ^@ NM_000101.3(CYBA):c.373G>A (p.Ala125Thr) http://identifiers.org/clinvar/2312 ^@ NM_005609.3(PYGM):c.2392T>C (p.Trp798Arg) http://identifiers.org/clinvar/2358 ^@ NM_206933.2(USH2A):c.949C>A (p.Arg317=) http://identifiers.org/clinvar/2403 ^@ NM_000048.3(ASL):c.1135C>T (p.Arg379Cys) http://identifiers.org/clinvar/3082 ^@ NM_000487.5(ARSA):c.1115G>A (p.Arg372Gln) http://identifiers.org/clinvar/3131 ^@ NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) http://identifiers.org/clinvar/3182 ^@ NM_138477.2(CDAN1):c.1117_1119delGTT (p.Val373del) http://identifiers.org/clinvar/3227 ^@ NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) http://identifiers.org/clinvar/3276 ^@ NM_024529.4(CDC73):c.131+1G>A http://identifiers.org/clinvar/3320 ^@ SALL4, 1-BP INS, 940C http://identifiers.org/clinvar/11023 ^@ NM_198270.3(NHS):c.2387dupC (p.Ser797Phefs) http://identifiers.org/clinvar/11069 ^@ NM_001015877.1(PHF6):c.769A>G (p.Arg257Gly) http://identifiers.org/clinvar/11113 ^@ WAS, 1-BP DEL, 211T http://identifiers.org/clinvar/12052 ^@ FANCC, 250-BP DEL http://identifiers.org/clinvar/12102 ^@ NM_000196.3(HSD11B2):c.895_897delTAC (p.Tyr299del) http://identifiers.org/clinvar/12152 ^@ NM_000500.7(CYP21A2):c.1069C>T (p.Arg357Trp) http://identifiers.org/clinvar/12207 ^@ AVP, 3-BP DEL, NT1824 http://identifiers.org/clinvar/12258 ^@ NM_003361.3(UMOD):c.230G>A (p.Cys77Tyr) http://identifiers.org/clinvar/12310 ^@ NM_001007792.1(NTRK1):c.1976C>T (p.Pro659Leu) http://identifiers.org/clinvar/12360 ^@ TP53, 1-BP INS, 151C http://identifiers.org/clinvar/12411 ^@ NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) http://identifiers.org/clinvar/12463 ^@ NM_003289.3(TPM2):c.397C>T (p.Arg133Trp) http://identifiers.org/clinvar/12513 ^@ TGFBR2, IVS1, A-G, -2 http://identifiers.org/clinvar/12563 ^@ NM_001128177.1(THRB):c.1336T>C (p.Cys446Arg) http://identifiers.org/clinvar/12614 ^@ NM_001063.3(TF):c.830G>A (p.Gly277Asp) http://identifiers.org/clinvar/12664 ^@ NM_212472.2(PRKAR1A):c.891+3A>G http://identifiers.org/clinvar/12715 ^@ THBD, ALA25THR http://identifiers.org/clinvar/12766 ^@ NM_003172.3(SURF1):c.820T>G (p.Tyr274Asp) http://identifiers.org/clinvar/12816 ^@ NM_003106.3(SOX2):c.248C>A (p.Ser83Ter) http://identifiers.org/clinvar/12867 ^@ SPTAN1, 6-BP DUP, NT6923 http://identifiers.org/clinvar/12917 ^@ NM_000702.3(ATP1A2):c.2291T>C (p.Leu764Pro) http://identifiers.org/clinvar/12967 ^@ NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) http://identifiers.org/clinvar/13018 ^@ NM_000539.3(RHO):c.50C>T (p.Thr17Met) http://identifiers.org/clinvar/13069 ^@ NM_000321.2(RB1):c.2520+1delG http://identifiers.org/clinvar/13120 ^@ NM_000329.2(RPE65):c.1543C>T (p.Arg515Trp) http://identifiers.org/clinvar/13171 ^@ NM_000322.4(PRPH2):c.897_898delTG (p.Ser301Argfs) http://identifiers.org/clinvar/13222 ^@ BCHE Newfoundland http://identifiers.org/clinvar/13273 ^@ NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) http://identifiers.org/clinvar/13324 ^@ NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser) http://identifiers.org/clinvar/13374 ^@ PSAP, IVS5AS, A-G, -2 http://identifiers.org/clinvar/50891 ^@ NM_024312.4(GNPTAB):c.2864C>T (p.Ala955Val) http://identifiers.org/clinvar/39251 ^@ NM_207352.3(CYP4V2):c.1169G>A (p.Arg390His) http://identifiers.org/clinvar/39351 ^@ NM_000769.1(CYP2C19):c.358T>C (p.Trp120Arg) http://identifiers.org/clinvar/39464 ^@ NM_004281.3(BAG3):c.652C>T (p.Arg218Trp) http://identifiers.org/clinvar/39515 ^@ NM_000557.4(GDF5):c.1195C>T (p.Arg399Cys) http://identifiers.org/clinvar/39565 ^@ NM_018706.6(DHTKD1):c.1228C>T (p.Arg410Ter) http://identifiers.org/clinvar/39616 ^@ NM_006206.4(PDGFRA):c.1202C>A (p.Ala401Asp) http://identifiers.org/clinvar/39667 ^@ NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) http://identifiers.org/clinvar/39719 ^@ POMGNT1, 9-BP DUP, -83 http://identifiers.org/clinvar/39770 ^@ NM_020347.3(LZTFL1):c.402_406delAAAGC (p.Pro136Thrfs) http://identifiers.org/clinvar/39821 ^@ NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) http://identifiers.org/clinvar/39871 ^@ NM_018344.5(SLC29A3):c.607T>C (p.Ser203Pro) http://identifiers.org/clinvar/40064 ^@ NM_001165899.1(PDE4D):c.728C>T (p.Ala243Val) http://identifiers.org/clinvar/40213 ^@ NM_033500.2(HK1):c.-390-3818G>C http://identifiers.org/clinvar/40350 ^@ NM_004333.4(BRAF):c.753T>C (p.Cys251=) http://identifiers.org/clinvar/40421 ^@ NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) http://identifiers.org/clinvar/40489 ^@ NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) http://identifiers.org/clinvar/40547 ^@ NM_002834.4(PTPN11):c.1402A>C (p.Thr468Pro) http://identifiers.org/clinvar/40608 ^@ NM_002880.3(RAF1):c.788T>C (p.Val263Ala) http://identifiers.org/clinvar/40682 ^@ NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) http://identifiers.org/clinvar/40770 ^@ NM_030662.3(MAP2K2):c.192C>T (p.Val64=) http://identifiers.org/clinvar/40974 ^@ 17q21.31 Microdeletion http://identifiers.org/clinvar/41031 ^@ NM_000744.6(CHRNA4):c.878C>T (p.Thr293Ile) http://identifiers.org/clinvar/41088 ^@ NM_003611.2(OFD1):c.1923G>A (p.Glu641=) http://identifiers.org/clinvar/41144 ^@ NM_003611.2(OFD1):c.712delT (p.Tyr238Metfs) http://identifiers.org/clinvar/41196 ^@ NM_003977.3(AIP):c.70G>T (p.Glu24Ter) http://identifiers.org/clinvar/51156 ^@ NM_000059.3(BRCA2):c.1617delA (p.Leu540Trpfs) http://identifiers.org/clinvar/51207 ^@ NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr) http://identifiers.org/clinvar/51259 ^@ NM_000059.3(BRCA2):c.2245A>G (p.Ser749Gly) http://identifiers.org/clinvar/51310 ^@ NM_000059.3(BRCA2):c.2589delT (p.Gln864Lysfs) http://identifiers.org/clinvar/51360 ^@ NM_000059.3(BRCA2):c.2849T>A (p.Val950Asp) http://identifiers.org/clinvar/51410 ^@ NM_000059.3(BRCA2):c.316+5G>C http://identifiers.org/clinvar/51462 ^@ NM_000059.3(BRCA2):c.3431T>G (p.Val1144Gly) http://identifiers.org/clinvar/51513 ^@ NM_000059.3(BRCA2):c.3742A>C (p.Ser1248Arg) http://identifiers.org/clinvar/51564 ^@ NM_000059.3(BRCA2):c.3919delG (p.Glu1307Lysfs) http://identifiers.org/clinvar/51615 ^@ NM_000059.3(BRCA2):c.4223delA (p.Gln1408Argfs) http://identifiers.org/clinvar/51667 ^@ NM_000059.3(BRCA2):c.4546dupA (p.Ile1516Asnfs) http://identifiers.org/clinvar/51719 ^@ NM_000059.3(BRCA2):c.4808dupA (p.Asn1603Lysfs) http://identifiers.org/clinvar/51770 ^@ NM_000059.3(BRCA2):c.5107G>T (p.Glu1703Ter) http://identifiers.org/clinvar/51821 ^@ NM_000059.3(BRCA2):c.5217_5221delTTTAA (p.Tyr1739Terfs) http://identifiers.org/clinvar/51875 ^@ NM_000059.3(BRCA2):c.5507A>C (p.Asn1836Thr) http://identifiers.org/clinvar/51927 ^@ NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr) http://identifiers.org/clinvar/51978 ^@ NM_000059.3(BRCA2):c.5972C>T (p.Ala1991Val) http://identifiers.org/clinvar/52781 ^@ NM_000059.3(BRCA2):c.9227delG (p.Gly3076Aspfs) http://identifiers.org/clinvar/52832 ^@ NM_000059.3(BRCA2):c.9408delT (p.Thr3137Leufs) http://identifiers.org/clinvar/52883 ^@ NM_000059.3(BRCA2):c.9649-19G>A http://identifiers.org/clinvar/52933 ^@ NM_000218.2(KCNQ1):c.1027C>T (p.Pro343Ser) http://identifiers.org/clinvar/52983 ^@ NM_000218.2(KCNQ1):c.1486_1487delCT (p.Leu496Alafs) http://identifiers.org/clinvar/53239 ^@ NM_000492.3(CFTR):c.1392+1G>A http://identifiers.org/clinvar/53289 ^@ NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp) http://identifiers.org/clinvar/53340 ^@ NM_000492.3(CFTR):c.1682dupC (p.Val562Serfs) http://identifiers.org/clinvar/53390 ^@ NM_000492.3(CFTR):c.1798A>G (p.Arg600Gly) http://identifiers.org/clinvar/53442 ^@ NM_000492.3(CFTR):c.2143C>T (p.Gln715Ter) http://identifiers.org/clinvar/53495 ^@ NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) http://identifiers.org/clinvar/53545 ^@ NM_000492.3(CFTR):c.269T>C (p.Leu90Ser) http://identifiers.org/clinvar/53595 ^@ NM_000492.3(CFTR):c.2909delG (p.Gly970Valfs) http://identifiers.org/clinvar/53647 ^@ NM_000492.3(CFTR):c.3083T>G (p.Met1028Arg) http://identifiers.org/clinvar/53698 ^@ NM_000492.3(CFTR):c.3263dupA (p.Asn1088Lysfs) http://identifiers.org/clinvar/53748 ^@ NM_000492.3(CFTR):c.3460G>T (p.Asp1154Tyr) http://identifiers.org/clinvar/53799 ^@ NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) http://identifiers.org/clinvar/53853 ^@ NM_000492.3(CFTR):c.3921T>A (p.Tyr1307Ter) http://identifiers.org/clinvar/53903 ^@ NM_000492.3(CFTR):c.4147dupA (p.Ile1383Asnfs) http://identifiers.org/clinvar/53954 ^@ NM_000492.3(CFTR):c.451C>T (p.Gln151Ter) http://identifiers.org/clinvar/54004 ^@ NM_000492.3(CFTR):c.574_576delGAT (p.Asp192del) http://identifiers.org/clinvar/54054 ^@ NM_000492.3(CFTR):c.744-10_744-3del http://identifiers.org/clinvar/54106 ^@ NM_007294.3(BRCA1):c.1040delT (p.Leu347Argfs) http://identifiers.org/clinvar/54206 ^@ NM_007294.3(BRCA1):c.1339dupG (p.Val447Glyfs) http://identifiers.org/clinvar/54357 ^@ NM_007294.3(BRCA1):c.1817delC (p.Pro606Leufs) http://identifiers.org/clinvar/54408 ^@ NM_007294.3(BRCA1):c.1945G>T (p.Glu649Ter) http://identifiers.org/clinvar/54458 ^@ NM_007294.3(BRCA1):c.2086delA (p.Thr696Leufs) http://identifiers.org/clinvar/54508 ^@ NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) http://identifiers.org/clinvar/54558 ^@ NM_007294.3(BRCA1):c.2405_2406delTG (p.Val802Glufs) http://identifiers.org/clinvar/55404 ^@ NM_007294.3(BRCA1):c.5112delT (p.Leu1705Terfs) http://identifiers.org/clinvar/55454 ^@ NM_007294.3(BRCA1):c.5201T>C (p.Phe1734Ser) http://identifiers.org/clinvar/55506 ^@ NM_007294.3(BRCA1):c.5284delA (p.Arg1762Glyfs) http://identifiers.org/clinvar/55557 ^@ NM_007294.3(BRCA1):c.5382G>T (p.Glu1794Asp) http://identifiers.org/clinvar/55607 ^@ NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) http://identifiers.org/clinvar/55658 ^@ NM_007294.3(BRCA1):c.668A>G (p.Lys223Arg) http://identifiers.org/clinvar/55710 ^@ NM_007294.3(BRCA1):c.80+1G>A http://identifiers.org/clinvar/55761 ^@ NM_007294.3(BRCA1):c.943A>G (p.Arg315Gly) http://identifiers.org/clinvar/55833 ^@ NM_003079.4(SMARCE1):c.237+2T>C http://identifiers.org/clinvar/55911 ^@ NM_207037.1(TCF12):c.842C>G (p.Ser281Ter) http://identifiers.org/clinvar/55969 ^@ NM_000111.2(SLC26A3):c.1360C>T (p.Gln454Ter) http://identifiers.org/clinvar/56022 ^@ NM_000112.3(SLC26A2):c.331G>T (p.Asp111Tyr) http://identifiers.org/clinvar/56073 ^@ NM_000170.2(GLDC):c.2316-1G>A http://identifiers.org/clinvar/56126 ^@ NM_000274.3(OAT):c.425-2A>G http://identifiers.org/clinvar/56178 ^@ NM_000310.3(PPT1):c.125-2A>G http://identifiers.org/clinvar/56228 ^@ NM_000481.3(AMT):c.217C>T (p.Arg73Cys) http://identifiers.org/clinvar/56279 ^@ NM_001042432.1(CLN3):c.533+1G>C http://identifiers.org/clinvar/56331 ^@ NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter) http://identifiers.org/clinvar/56381 ^@ NM_001126105.2(SLC7A7):c.895-2A>G http://identifiers.org/clinvar/56433 ^@ NM_004646.3(NPHS1):c.1250G>T (p.Cys417Phe) http://identifiers.org/clinvar/56483 ^@ NM_004646.3(NPHS1):c.2618_2620delTCAinsCC (p.Phe873Serfs) http://identifiers.org/clinvar/56534 ^@ NM_006493.2(CLN5):c.433C>T (p.Arg145Ter) http://identifiers.org/clinvar/56587 ^@ NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) http://identifiers.org/clinvar/56642 ^@ NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp) http://identifiers.org/clinvar/56692 ^@ NM_017890.4(VPS13B):c.8341delC (p.Leu2781Terfs) http://identifiers.org/clinvar/101290 ^@ NM_000090.3(COL3A1):c.1068_1069insGACCCTGCA (p.Ala356_Gly357insAspProAla) http://identifiers.org/clinvar/101340 ^@ NM_000090.3(COL3A1):c.1475G>T (p.Gly492Val) http://identifiers.org/clinvar/126843 ^@ NM_000321.2(RB1):c.217delA (p.Arg73Glufs) http://identifiers.org/clinvar/126902 ^@ NM_007194.3(CHEK2):c.-34A>T http://identifiers.org/clinvar/126952 ^@ NM_000428.2(LTBP2):c.1642C>T (p.Arg548Ter) http://identifiers.org/clinvar/127002 ^@ NM_005732.3(RAD50):c.3165-155A>T http://identifiers.org/clinvar/127052 ^@ NM_134424.3(RAD52):c.*317G>A http://identifiers.org/clinvar/127109 ^@ NM_005013.2(NUCB2):c.-308G>A http://identifiers.org/clinvar/127190 ^@ NM_178014.3(TUBB):c.1057G>A (p.Val353Ile) http://identifiers.org/clinvar/127276 ^@ NM_000038.5(APC):c.1279C>A (p.His427Asn) http://identifiers.org/clinvar/127326 ^@ NM_000038.5(APC):c.8498G>A (p.Arg2833His) http://identifiers.org/clinvar/127376 ^@ NM_000051.3(ATM):c.3836G>A (p.Trp1279Ter) http://identifiers.org/clinvar/127426 ^@ NM_000051.3(ATM):c.6572+1G>A http://identifiers.org/clinvar/127477 ^@ NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) http://identifiers.org/clinvar/127527 ^@ NM_000136.2(FANCC):c.-78-2A>G http://identifiers.org/clinvar/127577 ^@ NM_000179.2(MSH6):c.3047C>T (p.Ala1016Val) http://identifiers.org/clinvar/127628 ^@ NM_000251.2(MSH2):c.1204C>A (p.Gln402Lys) http://identifiers.org/clinvar/127685 ^@ NM_000314.6(PTEN):c.-975G>C http://identifiers.org/clinvar/127737 ^@ NM_000465.3(BARD1):c.33G>T (p.Gln11His) http://identifiers.org/clinvar/127788 ^@ NM_000535.6(PMS2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/160786 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 http://identifiers.org/clinvar/160836 ^@ GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3 http://identifiers.org/clinvar/160889 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 http://identifiers.org/clinvar/160941 ^@ GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 http://identifiers.org/clinvar/160991 ^@ GRCh38/hg38 6p25.3(chr6:259528-339802)x3 http://identifiers.org/clinvar/161042 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 http://identifiers.org/clinvar/161092 ^@ NM_000243.2(MEFV):c.369C>A (p.His123Gln) http://identifiers.org/clinvar/161142 ^@ NM_152296.4(ATP1A3):c.2417T>G (p.Met806Arg) http://identifiers.org/clinvar/161324 ^@ NM_000257.3(MYH7):c.4052C>T (p.Thr1351Met) http://identifiers.org/clinvar/161224 ^@ NM_001943.4(DSG2):c.1912G>A (p.Gly638Arg) http://identifiers.org/clinvar/161274 ^@ NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) http://identifiers.org/clinvar/161374 ^@ NM_000540.2(RYR1):c.6478G>A (p.Gly2160Ser) http://identifiers.org/clinvar/161440 ^@ NM_001845.5(COL4A1):c.2085delC (p.Gly696Alafs) http://identifiers.org/clinvar/161793 ^@ NM_053028.3(MYLK):c.1148C>T (p.Pro383Leu) http://identifiers.org/clinvar/161593 ^@ NM_002253.2(KDR):c.2360G>A (p.Arg787Gln) http://identifiers.org/clinvar/161543 ^@ NM_001164097.1(VCAN):c.1655C>A (p.Pro552His) http://identifiers.org/clinvar/161643 ^@ NM_005961.2(MUC6):c.4382C>T (p.Thr1461Ile) http://identifiers.org/clinvar/161493 ^@ NM_001012302.2(ANO9):c.2046C>G (p.Asp682Glu) http://identifiers.org/clinvar/161743 ^@ NM_021008.3(DEAF1):c.1526G>A (p.Arg509Gln) http://identifiers.org/clinvar/161843 ^@ NM_181054.2(HIF1A):c.700G>A (p.Glu234Lys) http://identifiers.org/clinvar/161693 ^@ NM_015373.3(CBY1):c.346C>G (p.Leu116Val) http://identifiers.org/clinvar/162015 ^@ NM_014191.3(SCN8A):c.667A>G (p.Arg223Gly) http://identifiers.org/clinvar/162077 ^@ NM_002019.4(FLT1):c.2654_2655insA (p.Gly886Trpfs) http://identifiers.org/clinvar/162134 ^@ NM_001563.3(IMPG1):c.807+1G>T http://identifiers.org/clinvar/165542 ^@ NM_000364.3(TNNT2):c.547C>G (p.Arg183Gly) http://identifiers.org/clinvar/165129 ^@ NM_001035.2(RYR2):c.14152-16dupC http://identifiers.org/clinvar/165852 ^@ NM_133378.4(TTN):c.63930delA (p.Ala21311Leufs) http://identifiers.org/clinvar/165949 ^@ NM_133378.4(TTN):c.50267G>A (p.Arg16756Gln) http://identifiers.org/clinvar/165665 ^@ NM_133378.4(TTN):c.92577C>T (p.Tyr30859=) http://identifiers.org/clinvar/165999 ^@ NM_133378.4(TTN):c.44302G>A (p.Val14768Ile) http://identifiers.org/clinvar/166138 ^@ NM_133378.4(TTN):c.24361C>T (p.Arg8121Trp) http://identifiers.org/clinvar/166255 ^@ NM_133379.4(TTN):c.15169G>T (p.Glu5057Ter) http://identifiers.org/clinvar/166305 ^@ NM_133378.4(TTN):c.8292G>A (p.Leu2764=) http://identifiers.org/clinvar/165276 ^@ NM_005633.3(SOS1):c.3971C>G (p.Pro1324Arg) http://identifiers.org/clinvar/165007 ^@ NM_002880.3(RAF1):c.1108+15C>T http://identifiers.org/clinvar/177841 ^@ NM_000258.2(MYL3):c.466G>T (p.Val156Leu) http://identifiers.org/clinvar/178862 ^@ NM_004415.3(DSP):c.1615C>T (p.Gln539Ter) http://identifiers.org/clinvar/177690 ^@ NM_005228.4(EGFR):c.2235_2248delGGAATTAAGAGAAGinsAATTC (p.Glu746_Ala750delinsIlePro) http://identifiers.org/clinvar/164800 ^@ NM_016616.4(NME8):c.219G>A (p.Val73=) http://identifiers.org/clinvar/178811 ^@ NM_016616.4(NME8):c.1478T>C (p.Ile493Thr) http://identifiers.org/clinvar/198459 ^@ NM_001135659.2(NRXN1):c.981C>T (p.Tyr327=) http://identifiers.org/clinvar/198513 ^@ NM_004458.2(ACSL4):c.806+3A>G http://identifiers.org/clinvar/198564 ^@ NM_015102.4(NPHP4):c.713C>A (p.Thr238Lys) http://identifiers.org/clinvar/198616 ^@ NM_138694.3(PKHD1):c.449-9_449-7delTTC http://identifiers.org/clinvar/198667 ^@ NM_033071.3(SYNE1):c.12351C>T (p.Ser4117=) http://identifiers.org/clinvar/198719 ^@ NM_000350.2(ABCA4):c.872C>T (p.Pro291Leu) http://identifiers.org/clinvar/198773 ^@ NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) http://identifiers.org/clinvar/200928 ^@ NM_170707.3(LMNA):c.1698+14G>A http://identifiers.org/clinvar/201287 ^@ NM_001035.2(RYR2):c.19G>A (p.Gly7Ser) http://identifiers.org/clinvar/201233 ^@ NM_001035.2(RYR2):c.2848G>T (p.Val950Leu) http://identifiers.org/clinvar/201178 ^@ NM_001035.2(RYR2):c.8367T>C (p.Ile2789=) http://identifiers.org/clinvar/201343 ^@ NM_001035.2(RYR2):c.13081G>A (p.Glu4361Lys) http://identifiers.org/clinvar/201402 ^@ NM_001035.2(RYR2):c.13516G>C (p.Ala4506Pro) http://identifiers.org/clinvar/201511 ^@ NM_198056.2(SCN5A):c.4270A>T (p.Ile1424Phe) http://identifiers.org/clinvar/201568 ^@ NM_198056.2(SCN5A):c.3634_3636delATC (p.Ile1212del) http://identifiers.org/clinvar/201454 ^@ NM_198056.2(SCN5A):c.1399G>T (p.Ala467Ser) http://identifiers.org/clinvar/199904 ^@ NM_004415.3(DSP):c.6479G>A (p.Arg2160Gln) http://identifiers.org/clinvar/200701 ^@ NM_000238.3(KCNH2):c.3103delC (p.Arg1035Glyfs) http://identifiers.org/clinvar/200442 ^@ NM_000238.3(KCNH2):c.2396T>C (p.Leu799Pro) http://identifiers.org/clinvar/200282 ^@ NM_000238.3(KCNH2):c.398T>C (p.Met133Thr) http://identifiers.org/clinvar/200596 ^@ NM_000238.3(KCNH2):c.76+2T>G http://identifiers.org/clinvar/200867 ^@ NM_000218.2(KCNQ1):c.37A>T (p.Lys13Ter) http://identifiers.org/clinvar/200814 ^@ NM_000218.2(KCNQ1):c.521G>T (p.Arg174Leu) http://identifiers.org/clinvar/200997 ^@ NM_130799.2(MEN1):c.628_631delACAG (p.Thr210Serfs) http://identifiers.org/clinvar/200131 ^@ NM_000138.4(FBN1):c.8412T>G (p.Phe2804Leu) http://identifiers.org/clinvar/200073 ^@ NM_000138.4(FBN1):c.6052G>A (p.Val2018Ile) http://identifiers.org/clinvar/200185 ^@ NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) http://identifiers.org/clinvar/200018 ^@ NM_000138.4(FBN1):c.3475T>A (p.Cys1159Ser) http://identifiers.org/clinvar/199963 ^@ NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter) http://identifiers.org/clinvar/201111 ^@ NM_002474.2(MYH11):c.4578+2dupT http://identifiers.org/clinvar/201058 ^@ NM_001040113.1(MYH11):c.2914G>T (p.Ala972Ser) http://identifiers.org/clinvar/201628 ^@ NM_001103.3(ACTN2):c.353G>A (p.Gly118Asp) http://identifiers.org/clinvar/201683 ^@ NM_004281.3(BAG3):c.961C>T (p.Pro321Ser) http://identifiers.org/clinvar/201738 ^@ NM_004006.2(DMD):c.6179C>T (p.Thr2060Ile) http://identifiers.org/clinvar/232998 ^@ NM_000038.5(APC):c.5089A>G (p.Thr1697Ala) http://identifiers.org/clinvar/233738 ^@ NM_005732.3(RAD50):c.213+3A>C http://identifiers.org/clinvar/233990 ^@ NM_000077.4(CDKN2A):c.412A>G (p.Arg138Gly) http://identifiers.org/clinvar/231747 ^@ NM_000051.3(ATM):c.903T>G (p.Gly301=) http://identifiers.org/clinvar/229908 ^@ NM_000051.3(ATM):c.5919-2A>G http://identifiers.org/clinvar/231947 ^@ NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter) http://identifiers.org/clinvar/234090 ^@ NM_000051.3(ATM):c.6226A>G (p.Ile2076Val) http://identifiers.org/clinvar/232948 ^@ NM_000051.3(ATM):c.6613T>C (p.Trp2205Arg) http://identifiers.org/clinvar/230008 ^@ NM_005591.3(MRE11):c.1728A>T (p.Arg576=) http://identifiers.org/clinvar/232397 ^@ NM_000059.3(BRCA2):c.482G>A (p.Cys161Tyr) http://identifiers.org/clinvar/233098 ^@ NM_000059.3(BRCA2):c.730G>T (p.Asp244Tyr) http://identifiers.org/clinvar/233148 ^@ NM_000059.3(BRCA2):c.1095A>T (p.Pro365=) http://identifiers.org/clinvar/232447 ^@ NM_000059.3(BRCA2):c.5910A>G (p.Ser1970=) http://identifiers.org/clinvar/232197 ^@ NM_000059.3(BRCA2):c.6347A>T (p.His2116Leu) http://identifiers.org/clinvar/232648 ^@ NM_000059.3(BRCA2):c.6419G>T (p.Gly2140Val) http://identifiers.org/clinvar/233840 ^@ NM_000059.3(BRCA2):c.6567_6573delCGTAAAA (p.Asn2189Lysfs) http://identifiers.org/clinvar/232147 ^@ NM_000059.3(BRCA2):c.9097A>C (p.Thr3033Pro) http://identifiers.org/clinvar/230258 ^@ NM_000059.3(BRCA2):c.9333G>A (p.Glu3111=) http://identifiers.org/clinvar/232698 ^@ NM_000548.4(TSC2):c.3936G>A (p.Val1312=) http://identifiers.org/clinvar/232748 ^@ NM_024675.3(PALB2):c.1540G>A (p.Gly514Arg) http://identifiers.org/clinvar/234140 ^@ NM_024675.3(PALB2):c.1072C>T (p.Pro358Ser) http://identifiers.org/clinvar/230058 ^@ NM_004360.4(CDH1):c.236C>G (p.Thr79Arg) http://identifiers.org/clinvar/234040 ^@ NM_144997.5(FLCN):c.1597_1598delCA (p.Gln533Glufs) http://identifiers.org/clinvar/232598 ^@ NM_001042492.2(NF1):c.2001+3C>G http://identifiers.org/clinvar/232347 ^@ NM_001042492.2(NF1):c.2674A>T (p.Ser892Cys) http://identifiers.org/clinvar/229808 ^@ NM_001042492.2(NF1):c.3534A>G (p.Thr1178=) http://identifiers.org/clinvar/231847 ^@ NM_001042492.2(NF1):c.4212A>G (p.Ala1404=) http://identifiers.org/clinvar/229658 ^@ NM_001042492.2(NF1):c.5550C>T (p.Val1850=) http://identifiers.org/clinvar/230158 ^@ NM_002878.3(RAD51D):c.627T>C (p.Thr209=) http://identifiers.org/clinvar/231997 ^@ NM_007294.3(BRCA1):c.5236delC (p.His1746Thrfs) http://identifiers.org/clinvar/232047 ^@ NM_007294.3(BRCA1):c.5200T>A (p.Phe1734Ile) http://identifiers.org/clinvar/232297 ^@ NM_007294.3(BRCA1):c.465A>T (p.Gln155His) http://identifiers.org/clinvar/233940 ^@ NM_058216.2(RAD51C):c.946C>T (p.His316Tyr) http://identifiers.org/clinvar/232848 ^@ NM_058216.2(RAD51C):c.1043A>T (p.Asp348Val) http://identifiers.org/clinvar/231797 ^@ NM_032043.2(BRIP1):c.466G>A (p.Val156Ile) http://identifiers.org/clinvar/230208 ^@ NM_000546.5(TP53):c.877G>A (p.Gly293Arg) http://identifiers.org/clinvar/232497 ^@ NM_000546.5(TP53):c.833C>T (p.Pro278Leu) http://identifiers.org/clinvar/232898 ^@ NM_005359.5(SMAD4):c.491A>G (p.His164Arg) http://identifiers.org/clinvar/231897 ^@ NM_000455.4(STK11):c.27G>C (p.Leu9=) http://identifiers.org/clinvar/230108 ^@ NM_000455.4(STK11):c.537G>T (p.Pro179=) http://identifiers.org/clinvar/230358 ^@ NM_000455.4(STK11):c.1049A>G (p.Asp350Gly) http://identifiers.org/clinvar/231297 ^@ NM_007194.3(CHEK2):c.1141A>C (p.Met381Leu) http://identifiers.org/clinvar/232547 ^@ NM_007194.3(CHEK2):c.304G>T (p.Gly102Ter) http://identifiers.org/clinvar/234928 ^@ NM_003052.4(SLC34A1):c.1006+1G>A http://identifiers.org/clinvar/235065 ^@ NM_001001430.2(TNNT2):c.328T>G (p.Phe110Val) http://identifiers.org/clinvar/235015 ^@ NC_012920.1:m.4317delA http://identifiers.org/clinvar/235190 ^@ NM_018946.3(NANS):c.562T>C (p.Tyr188His) http://identifiers.org/clinvar/235254 ^@ NC_012920.1:m.2394delA http://identifiers.org/clinvar/235307 ^@ NM_000018.3(ACADVL):c.1820G>A (p.Cys607Tyr) http://identifiers.org/clinvar/235811 ^@ NC_012920.1:m.5302T>C http://identifiers.org/clinvar/239426 ^@ NM_003000.2(SDHB):c.248T>C (p.Val83Ala) http://identifiers.org/clinvar/239476 ^@ NM_003036.3(SKI):c.1767+6C>T http://identifiers.org/clinvar/238233 ^@ NM_001035.2(RYR2):c.40C>T (p.Leu14=) http://identifiers.org/clinvar/237633 ^@ NM_000312.3(PROC):c.286C>T (p.Pro96Ser) http://identifiers.org/clinvar/237733 ^@ NM_000384.2(APOB):c.10520G>C (p.Arg3507Pro) http://identifiers.org/clinvar/237833 ^@ NM_000465.3(BARD1):c.290T>G (p.Ile97Arg) http://identifiers.org/clinvar/239073 ^@ NM_001927.3(DES):c.1159G>A (p.Glu387Lys) http://identifiers.org/clinvar/239826 ^@ NM_004304.4(ALK):c.3600G>A (p.Ala1200=) http://identifiers.org/clinvar/239123 ^@ NM_002354.2(EPCAM):c.165T>C (p.Asn55=) http://identifiers.org/clinvar/237382 ^@ NM_000251.2(MSH2):c.213A>G (p.Gly71=) http://identifiers.org/clinvar/237131 ^@ NM_000179.2(MSH6):c.1238G>C (p.Trp413Ser) http://identifiers.org/clinvar/237181 ^@ NM_000179.2(MSH6):c.3201T>C (p.Ser1067=) http://identifiers.org/clinvar/239526 ^@ NM_003242.5(TGFBR2):c.116C>A (p.Thr39Asn) http://identifiers.org/clinvar/237332 ^@ NM_000249.3(MLH1):c.2193T>C (p.Pro731=) http://identifiers.org/clinvar/240277 ^@ NM_006030.3(CACNA2D2):c.3286G>A (p.Ala1096Thr) http://identifiers.org/clinvar/240327 ^@ NM_006206.4(PDGFRA):c.2265C>T (p.Ser755=) http://identifiers.org/clinvar/237232 ^@ NM_000222.2(KIT):c.102G>A (p.Pro34=) http://identifiers.org/clinvar/237282 ^@ NM_000222.2(KIT):c.735G>A (p.Thr245=) http://identifiers.org/clinvar/240227 ^@ NM_005732.3(RAD50):c.2754A>G (p.Thr918=) http://identifiers.org/clinvar/238972 ^@ NM_001369.2(DNAH5):c.367C>T (p.Leu123Phe) http://identifiers.org/clinvar/240076 ^@ NM_004821.2(HAND1):c.587A>G (p.Lys196Arg) http://identifiers.org/clinvar/239676 ^@ NM_004168.3(SDHA):c.621+8C>T http://identifiers.org/clinvar/258036 ^@ NM_001369.2(DNAH5):c.4797-29C>A http://identifiers.org/clinvar/257986 ^@ NM_001369.2(DNAH5):c.1197+29A>G http://identifiers.org/clinvar/257436 ^@ NM_001099287.1(NIPAL4):c.637A>G (p.Arg213Gly) http://identifiers.org/clinvar/263025 ^@ NM_182925.4(FLT4):c.1421+19_1421+37del19 http://identifiers.org/clinvar/263075 ^@ NM_182961.3(SYNE1):c.11734-5T>G http://identifiers.org/clinvar/261436 ^@ NM_021922.2(FANCE):c.900+39A>G http://identifiers.org/clinvar/262425 ^@ NM_138694.3(PKHD1):c.9998+49A>G http://identifiers.org/clinvar/258336 ^@ NM_001851.4(COL9A1):c.1066-36C>A http://identifiers.org/clinvar/258136 ^@ NM_001458.4(FLNC):c.2390-13C>T http://identifiers.org/clinvar/257886 ^@ NM_001277115.1(DNAH11):c.3766-10C>A http://identifiers.org/clinvar/257936 ^@ NM_001277115.1(DNAH11):c.8797+20T>G http://identifiers.org/clinvar/263125 ^@ NM_198428.2(BBS9):c.2322C>T (p.Ala774=) http://identifiers.org/clinvar/255447 ^@ NM_000168.5(GLI3):c.679+40C>A http://identifiers.org/clinvar/254747 ^@ NM_000050.4(ASS1):c.597+8C>T http://identifiers.org/clinvar/255047 ^@ NM_000093.4(COL5A1):c.110-34C>T http://identifiers.org/clinvar/255097 ^@ NM_000093.4(COL5A1):c.5206G>A (p.Ala1736Thr) http://identifiers.org/clinvar/257336 ^@ NM_001080114.1(LDB3):c.1506G>A (p.Lys502=) http://identifiers.org/clinvar/255497 ^@ NM_000195.4(HPS1):c.*12C>T http://identifiers.org/clinvar/258236 ^@ NM_001844.4(COL2A1):c.4075-14C>G http://identifiers.org/clinvar/255397 ^@ NM_000161.2(GCH1):c.-40C>T http://identifiers.org/clinvar/257136 ^@ NM_001024858.2(SPTB):c.666T>C (p.Phe222=) http://identifiers.org/clinvar/257186 ^@ NM_001034852.2(SMOC1):c.1046+7T>A http://identifiers.org/clinvar/257636 ^@ NM_001211.5(BUB1B):c.2523C>T (p.Cys841=) http://identifiers.org/clinvar/255147 ^@ NM_000119.2(EPB42):c.1122T>C (p.Asp374=) http://identifiers.org/clinvar/255297 ^@ NM_000138.4(FBN1):c.442+15G>T http://identifiers.org/clinvar/334933 ^@ NM_152383.4(DIS3L2):c.712A>G (p.Ile238Val) http://identifiers.org/clinvar/334983 ^@ NM_000751.2(CHRND):c.*424C>T http://identifiers.org/clinvar/335922 ^@ NM_000104.3(CYP1B1):c.*1730A>G http://identifiers.org/clinvar/336022 ^@ NM_005633.3(SOS1):c.865-4T>C http://identifiers.org/clinvar/333331 ^@ NM_001006657.1(WDR35):c.*2623T>C http://identifiers.org/clinvar/333431 ^@ NM_032977.3(CASP10):c.879C>A (p.Ser293Arg) http://identifiers.org/clinvar/336529 ^@ NM_001135659.2(NRXN1):c.*941dupT http://identifiers.org/clinvar/336679 ^@ NM_002618.3(PEX13):c.*442dupT http://identifiers.org/clinvar/335872 ^@ NM_014946.3(SPAST):c.*1963A>G http://identifiers.org/clinvar/336729 ^@ NM_032180.2(FAM161A):c.*196A>C http://identifiers.org/clinvar/336779 ^@ NM_015910.5(WDPCP):c.-396T>G http://identifiers.org/clinvar/336879 ^@ NM_002056.3(GFPT1):c.329A>G (p.Gln110Arg) http://identifiers.org/clinvar/336172 ^@ NM_133259.3(LRPPRC):c.179C>T (p.Ala60Val) http://identifiers.org/clinvar/336222 ^@ NM_001430.4(EPAS1):c.-347T>G http://identifiers.org/clinvar/336272 ^@ NM_001430.4(EPAS1):c.2107T>G (p.Ser703Ala) http://identifiers.org/clinvar/333781 ^@ NM_005006.6(NDUFS1):c.1516G>A (p.Val506Ile) http://identifiers.org/clinvar/333831 ^@ NM_014929.3(FASTKD2):c.*1452C>A http://identifiers.org/clinvar/337179 ^@ NM_000821.6(GGCX):c.*4509G>A http://identifiers.org/clinvar/337229 ^@ NM_000821.6(GGCX):c.*1282G>A http://identifiers.org/clinvar/333931 ^@ NM_015040.3(PIKFYVE):c.5343G>A (p.Glu1781=) http://identifiers.org/clinvar/336479 ^@ NM_000145.3(FSHR):c.1831C>G (p.Leu611Val) http://identifiers.org/clinvar/337379 ^@ NM_022912.2(REEP1):c.*967C>T http://identifiers.org/clinvar/337429 ^@ NM_144563.2(RPIA):c.218C>G (p.Ser73Cys) http://identifiers.org/clinvar/336579 ^@ NM_001135659.2(NRXN1):c.-1103T>C http://identifiers.org/clinvar/337479 ^@ NM_017849.3(TMEM127):c.*1723C>T http://identifiers.org/clinvar/334132 ^@ NM_000384.2(APOB):c.6304A>G (p.Ile2102Val) http://identifiers.org/clinvar/336629 ^@ NM_001039348.2(EFEMP1):c.489C>T (p.Tyr163=) http://identifiers.org/clinvar/334383 ^@ NM_025216.2(WNT10A):c.-312C>T http://identifiers.org/clinvar/334433 ^@ NM_002181.3(IHH):c.1101T>C (p.Phe367=) http://identifiers.org/clinvar/342259 ^@ NM_033084.4(FANCD2):c.1134+8T>G http://identifiers.org/clinvar/336979 ^@ NM_003494.3(DYSF):c.*75C>T http://identifiers.org/clinvar/337079 ^@ NM_004082.4(DCTN1):c.2753C>A (p.Pro918His) http://identifiers.org/clinvar/334483 ^@ NM_015311.2(OBSL1):c.4095G>C (p.Glu1365Asp) http://identifiers.org/clinvar/334533 ^@ NM_015311.2(OBSL1):c.660G>C (p.Ala220=) http://identifiers.org/clinvar/337279 ^@ NM_000821.6(GGCX):c.137C>T (p.Ser46Phe) http://identifiers.org/clinvar/342759 ^@ NM_000187.3(HGD):c.-218A>G http://identifiers.org/clinvar/334833 ^@ NM_025243.3(SLC19A3):c.*2129A>G http://identifiers.org/clinvar/342309 ^@ NM_016247.3(IMPG2):c.*836A>G http://identifiers.org/clinvar/342359 ^@ NM_016247.3(IMPG2):c.57G>C (p.Leu19=) http://identifiers.org/clinvar/342659 ^@ NM_020754.3(ARHGAP31):c.2497C>T (p.Leu833Phe) http://identifiers.org/clinvar/342709 ^@ NM_020754.3(ARHGAP31):c.*1995G>A http://identifiers.org/clinvar/335972 ^@ NM_005633.3(SOS1):c.*3566_*3568delGTT http://identifiers.org/clinvar/336072 ^@ NM_022437.2(ABCG8):c.675G>A (p.Val225=) http://identifiers.org/clinvar/350638 ^@ NM_032446.2(MEGF10):c.489C>T (p.Ile163=) http://identifiers.org/clinvar/350688 ^@ NM_032446.2(MEGF10):c.*1296T>A http://identifiers.org/clinvar/357714 ^@ NM_001142800.1(EYS):c.3905A>G (p.His1302Arg) http://identifiers.org/clinvar/350788 ^@ NM_001999.3(FBN2):c.1685C>T (p.Ala562Val) http://identifiers.org/clinvar/357964 ^@ NM_004415.3(DSP):c.7548G>A (p.Arg2516=) http://identifiers.org/clinvar/358014 ^@ NM_004999.3(MYO6):c.*1446_*1450delTAAAT http://identifiers.org/clinvar/358614 ^@ NM_014491.3(FOXP2):c.*203_*205delCTT http://identifiers.org/clinvar/358664 ^@ NM_014491.3(FOXP2):c.*3279_*3280dupGG http://identifiers.org/clinvar/358764 ^@ NM_012338.3(TSPAN12):c.304G>T (p.Val102Phe) http://identifiers.org/clinvar/351627 ^@ NM_024577.3(SH3TC2):c.*16896_*16901dupCACACA http://identifiers.org/clinvar/358814 ^@ NM_000230.2(LEP):c.-39G>A http://identifiers.org/clinvar/352075 ^@ NM_000112.3(SLC26A2):c.*3404C>T http://identifiers.org/clinvar/352275 ^@ NM_000405.4(GM2A):c.*868T>C http://identifiers.org/clinvar/359803 ^@ NM_001031710.2(KLHL7):c.*35A>G http://identifiers.org/clinvar/352475 ^@ NM_005546.3(ITK):c.1711A>G (p.Ile571Val) http://identifiers.org/clinvar/359903 ^@ NM_018947.5(CYCS):c.*2563_*2564delTT http://identifiers.org/clinvar/352525 ^@ NM_001099287.1(NIPAL4):c.*32C>T http://identifiers.org/clinvar/359953 ^@ NM_005522.4(HOXA1):c.*56C>A http://identifiers.org/clinvar/352575 ^@ NM_002187.2(IL12B):c.536G>C (p.Arg179Thr) http://identifiers.org/clinvar/352325 ^@ NM_000171.3(GLRA1):c.-80G>A http://identifiers.org/clinvar/360003 ^@ NM_002047.3(GARS):c.384G>A (p.Leu128=) http://identifiers.org/clinvar/360053 ^@ NM_198428.2(BBS9):c.-305T>G http://identifiers.org/clinvar/352425 ^@ NM_000337.5(SGCD):c.*6660dupA http://identifiers.org/clinvar/360153 ^@ NM_133468.4(BMPER):c.*2218C>T http://identifiers.org/clinvar/352725 ^@ NM_001017995.2(SH3PXD2B):c.*4828delT http://identifiers.org/clinvar/352875 ^@ NM_022455.4(NSD1):c.2194G>T (p.Asp732Tyr) http://identifiers.org/clinvar/352975 ^@ NM_003052.4(SLC34A1):c.1702C>T (p.His568Tyr) http://identifiers.org/clinvar/360603 ^@ NM_153033.4(KCTD7):c.*1293A>G http://identifiers.org/clinvar/360703 ^@ NM_000941.2(POR):c.744C>T (p.Tyr248=) http://identifiers.org/clinvar/360753 ^@ NM_001001547.2(CD36):c.282-14T>A http://identifiers.org/clinvar/360803 ^@ NM_000443.3(ABCB4):c.696C>T (p.Ala232=) http://identifiers.org/clinvar/353075 ^@ NM_014244.4(ADAMTS2):c.*707A>G http://identifiers.org/clinvar/357514 ^@ NM_018100.3(EFHC1):c.*1483_*1484delTC http://identifiers.org/clinvar/357564 ^@ NM_001723.5(DST):c.5346T>A (p.Leu1782=) http://identifiers.org/clinvar/357764 ^@ NM_018368.3(LMBRD1):c.*395T>C http://identifiers.org/clinvar/357814 ^@ NM_001851.4(COL9A1):c.344C>T (p.Thr115Met) http://identifiers.org/clinvar/353714 ^@ NM_000163.4(GHR):c.*1916T>G http://identifiers.org/clinvar/353814 ^@ NM_002203.3(ITGA2):c.*2041delA http://identifiers.org/clinvar/353864 ^@ NM_002203.3(ITGA2):c.*4028A>C http://identifiers.org/clinvar/364441 ^@ NM_005502.3(ABCA1):c.1913G>A (p.Arg638Gln) http://identifiers.org/clinvar/364691 ^@ NM_015404.3(WHRN):c.1305C>T (p.Asn435=) http://identifiers.org/clinvar/364741 ^@ NM_018249.5(CDK5RAP2):c.*264G>A http://identifiers.org/clinvar/364791 ^@ NM_018249.5(CDK5RAP2):c.-159G>A http://identifiers.org/clinvar/364541 ^@ NM_003640.4(IKBKAP):c.*1247T>C http://identifiers.org/clinvar/364591 ^@ NM_003640.4(IKBKAP):c.-242T>G http://identifiers.org/clinvar/364841 ^@ NM_000177.4(GSN):c.*185G>A http://identifiers.org/clinvar/364891 ^@ NM_002316.3(LMX1B):c.*38G>A http://identifiers.org/clinvar/364641 ^@ NM_000031.5(ALAD):c.931+15G>A http://identifiers.org/clinvar/301094 ^@ NM_033022.3(RPS24):c.235C>T (p.Leu79=) http://identifiers.org/clinvar/365191 ^@ NM_014908.3(DOLK):c.*124A>G http://identifiers.org/clinvar/364991 ^@ NM_002316.3(LMX1B):c.*4157C>T http://identifiers.org/clinvar/301194 ^@ NM_000429.2(MAT1A):c.-63C>T http://identifiers.org/clinvar/365341 ^@ NM_015046.5(SETX):c.7735G>A (p.Val2579Ile) http://identifiers.org/clinvar/365091 ^@ NM_000118.3(ENG):c.900G>A (p.Leu300=) http://identifiers.org/clinvar/301344 ^@ NM_001080116.1(LDB3):c.*632T>C http://identifiers.org/clinvar/365141 ^@ NM_001003722.1(GLE1):c.*540G>A http://identifiers.org/clinvar/365541 ^@ NM_139025.4(ADAMTS13):c.824+13C>T http://identifiers.org/clinvar/308798 ^@ NM_020638.2(FGF23):c.*181T>C http://identifiers.org/clinvar/308748 ^@ NM_016123.3(IRAK4):c.*1306C>T http://identifiers.org/clinvar/301544 ^@ NM_000043.5(FAS):c.*1084C>T http://identifiers.org/clinvar/365391 ^@ NM_000368.4(TSC1):c.*4447C>T http://identifiers.org/clinvar/301744 ^@ NM_002860.3(ALDH18A1):c.*803delA http://identifiers.org/clinvar/301994 ^@ NM_001080463.1(DYNC2H1):c.-33C>T http://identifiers.org/clinvar/309537 ^@ NM_002282.3(KRT83):c.445C>T (p.Arg149Cys) http://identifiers.org/clinvar/302044 ^@ NM_001080463.1(DYNC2H1):c.5335-14A>G http://identifiers.org/clinvar/309737 ^@ NM_015665.5(AAAS):c.259G>T (p.Val87Leu) http://identifiers.org/clinvar/309787 ^@ NM_002206.2(ITGA7):c.1681G>A (p.Val561Met) http://identifiers.org/clinvar/302244 ^@ NM_000051.3(ATM):c.941A>G (p.Asn314Ser) http://identifiers.org/clinvar/310087 ^@ NM_000552.4(VWF):c.1051G>A (p.Val351Met) http://identifiers.org/clinvar/366092 ^@ NM_144966.5(FREM1):c.*389T>C http://identifiers.org/clinvar/310287 ^@ NM_021150.3(GRIP1):c.*679dupT http://identifiers.org/clinvar/302883 ^@ NM_005188.3(CBL):c.*6265C>A http://identifiers.org/clinvar/321866 ^@ NM_000304.3(PMP22):c.-223C>T http://identifiers.org/clinvar/321916 ^@ NM_006445.3(PRPF8):c.645C>T (p.Asp215=) http://identifiers.org/clinvar/314470 ^@ NM_052873.2(IFT43):c.280G>A (p.Asp94Asn) http://identifiers.org/clinvar/313031 ^@ NM_025152.2(NUBPL):c.894T>A (p.Asp298Glu) http://identifiers.org/clinvar/341059 ^@ NM_000268.3(NF2):c.-397C>T http://identifiers.org/clinvar/314820 ^@ NM_018319.3(TDP1):c.-55C>G http://identifiers.org/clinvar/341159 ^@ NM_000268.3(NF2):c.*2999G>C http://identifiers.org/clinvar/314970 ^@ NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) http://identifiers.org/clinvar/315020 ^@ NM_000295.4(SERPINA1):c.*224G>A http://identifiers.org/clinvar/341459 ^@ NM_002473.5(MYH9):c.*1314C>T http://identifiers.org/clinvar/322655 ^@ NM_000286.2(PEX12):c.41C>A (p.Ala14Asp) http://identifiers.org/clinvar/322805 ^@ NM_145068.3(TRPV3):c.-177C>T http://identifiers.org/clinvar/341559 ^@ NM_013416.3(NCF4):c.*24C>T http://identifiers.org/clinvar/322855 ^@ NM_004937.2(CTNS):c.*431C>T http://identifiers.org/clinvar/322905 ^@ NM_004937.2(CTNS):c.*1957delA http://identifiers.org/clinvar/341659 ^@ NM_000026.3(ADSL):c.1200T>C (p.His400=) http://identifiers.org/clinvar/322955 ^@ NM_001004334.3(GPR179):c.*613G>C http://identifiers.org/clinvar/323105 ^@ NM_002274.3(KRT13):c.337G>A (p.Asp113Asn) http://identifiers.org/clinvar/315520 ^@ NM_002420.5(TRPM1):c.1801G>A (p.Asp601Asn) http://identifiers.org/clinvar/323255 ^@ NM_012232.5(CAVIN1):c.*1990A>C http://identifiers.org/clinvar/323405 ^@ NM_000151.3(G6PC):c.*2800G>A http://identifiers.org/clinvar/323655 ^@ NM_005910.5(MAPT):c.*250dupA http://identifiers.org/clinvar/315970 ^@ NM_173500.3(TTBK2):c.*581A>T http://identifiers.org/clinvar/316020 ^@ NM_000119.2(EPB42):c.991C>T (p.Arg331Cys) http://identifiers.org/clinvar/314320 ^@ NM_000428.2(LTBP2):c.-33C>A http://identifiers.org/clinvar/368320 ^@ NM_006915.2(RP2):c.*1717_*1719dupATT http://identifiers.org/clinvar/324364 ^@ NM_000789.3(ACE):c.417+8G>A http://identifiers.org/clinvar/368720 ^@ NM_153252.4(BRWD3):c.*273_*276delACAC http://identifiers.org/clinvar/314870 ^@ NM_006329.3(FBLN5):c.*98G>A http://identifiers.org/clinvar/314920 ^@ NM_004239.4(TRIP11):c.*290A>G http://identifiers.org/clinvar/317209 ^@ NM_000137.2(FAH):c.249G>A (p.Val83=) http://identifiers.org/clinvar/317309 ^@ NM_002693.2(POLG):c.*44G>C http://identifiers.org/clinvar/315320 ^@ NM_139057.3(ADAMTS17):c.233A>G (p.Glu78Gly) http://identifiers.org/clinvar/315420 ^@ NM_144599.4(NIPA1):c.*11G>C http://identifiers.org/clinvar/317360 ^@ NM_198525.2(KIF7):c.2321T>C (p.Leu774Pro) http://identifiers.org/clinvar/317410 ^@ NM_000057.3(BLM):c.3751+10C>T http://identifiers.org/clinvar/315470 ^@ NM_000275.2(OCA2):c.1326C>T (p.Asn442=) http://identifiers.org/clinvar/317460 ^@ NM_000875.4(IGF1R):c.3950C>G (p.Pro1317Arg) http://identifiers.org/clinvar/317560 ^@ NM_000875.4(IGF1R):c.*3470C>T http://identifiers.org/clinvar/317660 ^@ NM_000875.4(IGF1R):c.*6969G>A http://identifiers.org/clinvar/315670 ^@ NM_005159.4(ACTC1):c.*983C>T http://identifiers.org/clinvar/315720 ^@ NM_005159.4(ACTC1):c.-109C>A http://identifiers.org/clinvar/315870 ^@ NM_144508.4(KNL1):c.5626C>G (p.Leu1876Val) http://identifiers.org/clinvar/317760 ^@ NM_004862.3(LITAF):c.*933C>T http://identifiers.org/clinvar/315920 ^@ NM_138477.2(CDAN1):c.3384G>A (p.Pro1128=) http://identifiers.org/clinvar/325754 ^@ NM_017950.3(CCDC40):c.*190A>G http://identifiers.org/clinvar/318112 ^@ NM_001143979.1(NDE1):c.948-2611C>T http://identifiers.org/clinvar/318162 ^@ NM_002474.2(MYH11):c.2802G>A (p.Glu934=) http://identifiers.org/clinvar/371975 ^@ NM_004168.3(SDHA):c.1055G>A (p.Arg352Gln) http://identifiers.org/clinvar/372025 ^@ NM_006231.3(POLE):c.5173+10C>T http://identifiers.org/clinvar/371925 ^@ NM_006231.3(POLE):c.4952+11T>A http://identifiers.org/clinvar/372075 ^@ NM_007294.3(BRCA1):c.5406+24_5406+27delAGAG http://identifiers.org/clinvar/372125 ^@ DSP, GLN616PRO http://identifiers.org/clinvar/372199 ^@ NM_002936.4(RNASEH1):c.554C>T (p.Ala185Val) http://identifiers.org/clinvar/372258 ^@ NM_152416.3(NDUFAF6):c.206A>T (p.Asp69Val) http://identifiers.org/clinvar/373720 ^@ NM_001044385.2(TMEM237):c.97C>T (p.Arg33Cys) http://identifiers.org/clinvar/372725 ^@ NM_001135659.2(NRXN1):c.3485-109977G>A http://identifiers.org/clinvar/372519 ^@ NM_000348.3(SRD5A2):c.377A>G (p.Gln126Arg) http://identifiers.org/clinvar/373520 ^@ NM_001256850.1(TTN):c.52921A>G (p.Ile17641Val) http://identifiers.org/clinvar/372621 ^@ NM_002880.3(RAF1):c.856G>A (p.Glu286Lys) http://identifiers.org/clinvar/373620 ^@ NM_000739.2(CHRM2):c.67G>A (p.Val23Met) http://identifiers.org/clinvar/372571 ^@ NM_000238.3(KCNH2):c.3106_3107dupGG (p.Asp1037Alafs) http://identifiers.org/clinvar/372673 ^@ NM_024790.6(CSPP1):c.2377-8_2377-4delTTTTA http://identifiers.org/clinvar/373470 ^@ NM_005654.5(NR2F1):c.183C>T (p.Pro61=) http://identifiers.org/clinvar/373670 ^@ NM_002860.3(ALDH18A1):c.482G>A (p.Cys161Tyr) http://identifiers.org/clinvar/373570 ^@ NM_012463.3(ATP6V0A2):c.1852A>G (p.Arg618Gly) http://identifiers.org/clinvar/372775 ^@ NM_000271.4(NPC1):c.2201G>T (p.Ser734Ile) http://identifiers.org/clinvar/372311 ^@ NM_000061.2(BTK):c.1064T>A (p.Ile355Asn) http://identifiers.org/clinvar/373820 ^@ NM_000377.2(WAS):c.1183_1190dupCCACCACC (p.Pro398Hisfs) http://identifiers.org/clinvar/373770 ^@ NM_000489.4(ATRX):c.6464G>A (p.Gly2155Glu) http://identifiers.org/clinvar/372466 ^@ NM_000444.5(PHEX):c.2244_2245delCT (p.Trp749Valfs) http://identifiers.org/clinvar/373870 ^@ NG_005905.2:g.(?_92501)_(154652_160848)del http://identifiers.org/clinvar/374073 ^@ NM_000238.3(KCNH2):c.1394T>C (p.Val465Ala) http://identifiers.org/clinvar/374023 ^@ NM_000153.3(GALC):c.196G>A (p.Ala66Thr) http://identifiers.org/clinvar/373923 ^@ NM_000462.3(UBE3A):c.2281G>A (p.Gly761Arg) http://identifiers.org/clinvar/373973 ^@ NM_001042492.2(NF1):c.6904C>T (p.Gln2302Ter) http://identifiers.org/clinvar/374123 ^@ NM_001270447.1(ACADVL):c.1427G>A (p.Arg476Gln) http://identifiers.org/clinvar/374173 ^@ NM_001097642.2(GJB1):c.109G>T (p.Val37Leu) http://identifiers.org/clinvar/374227 ^@ NM_003165.3(STXBP1):c.1072delT (p.Tyr358Thrfs) http://identifiers.org/clinvar/374347 ^@ NM_133647.1(SLC12A6):c.250dupC (p.His84Profs) http://identifiers.org/clinvar/374297 ^@ NM_078480.2(PUF60):c.1381-2A>G http://identifiers.org/clinvar/374415 ^@ NM_019112.3(ABCA7):c.4208delT (p.Leu1403Argfs) http://identifiers.org/clinvar/374465 ^@ NM_014252.3(SLC25A15):c.177C>A (p.Gly59=) http://identifiers.org/clinvar/374515 ^@ NM_001014797.2(KCNMA1):c.127T>A (p.Ser43Thr) http://identifiers.org/clinvar/374565 ^@ NM_201380.3(PLEC):c.13352C>T (p.Ala4451Val) http://identifiers.org/clinvar/374615 ^@ NM_000260.3(MYO7A):c.3723A>T (p.Thr1241=) http://identifiers.org/clinvar/374665 ^@ NM_014191.3(SCN8A):c.5181C>A (p.His1727Gln) http://identifiers.org/clinvar/374715 ^@ NM_002661.4(PLCG2):c.2497G>A (p.Glu833Lys) http://identifiers.org/clinvar/374765 ^@ NM_001242897.1(DEPDC5):c.2066A>C (p.Gln689Pro) http://identifiers.org/clinvar/374825 ^@ NM_000142.4(FGFR3):c.739G>A (p.Glu247Lys) http://identifiers.org/clinvar/386321 ^@ NM_000251.2(MSH2):c.2458+4T>C http://identifiers.org/clinvar/390649 ^@ NM_005911.5(MAT2A):c.831T>C (p.His277=) http://identifiers.org/clinvar/378722 ^@ NM_006070.5(TFG):c.722-8G>T http://identifiers.org/clinvar/377474 ^@ NM_001148.4(ANK2):c.2727T>A (p.Thr909=) http://identifiers.org/clinvar/378873 ^@ NM_198056.2(SCN5A):c.5400A>G (p.Lys1800=) http://identifiers.org/clinvar/379173 ^@ NM_000179.2(MSH6):c.186C>G (p.Arg62=) http://identifiers.org/clinvar/383430 ^@ NM_016599.4(MYOZ2):c.228A>G (p.Gln76=) http://identifiers.org/clinvar/389060 ^@ NM_013334.3(GMPPB):c.960G>A (p.Leu320=) http://identifiers.org/clinvar/379023 ^@ NM_001182.4(ALDH7A1):c.771T>C (p.Ile257=) http://identifiers.org/clinvar/391699 ^@ NM_012464.4(TLL1):c.2861G>A (p.Gly954Asp) http://identifiers.org/clinvar/391799 ^@ NM_006005.3(WFS1):c.1806G>A (p.Ala602=) http://identifiers.org/clinvar/390899 ^@ NM_015560.2(OPA1):c.1847+7A>G http://identifiers.org/clinvar/383280 ^@ NM_178862.2(STT3B):c.2073+13A>G http://identifiers.org/clinvar/388610 ^@ NM_004168.3(SDHA):c.150+1G>A http://identifiers.org/clinvar/377924 ^@ NM_032380.4(GFM2):c.178C>A (p.His60Asn) http://identifiers.org/clinvar/379123 ^@ NM_198056.2(SCN5A):c.801C>T (p.Ile267=) http://identifiers.org/clinvar/386221 ^@ NM_002290.4(LAMA4):c.975C>T (p.Tyr325=) http://identifiers.org/clinvar/390749 ^@ NM_013352.3(DSE):c.2661A>G (p.Thr887=) http://identifiers.org/clinvar/383029 ^@ NM_032861.3(SERAC1):c.-14C>T http://identifiers.org/clinvar/391299 ^@ NM_001148.4(ANK2):c.9060C>T (p.Ser3020=) http://identifiers.org/clinvar/390999 ^@ NM_001151.3(SLC25A4):c.375C>T (p.Ala125=) http://identifiers.org/clinvar/390849 ^@ NM_001458.4(FLNC):c.1434C>T (p.Arg478=) http://identifiers.org/clinvar/391099 ^@ NM_000038.5(APC):c.6276A>G (p.Leu2092=) http://identifiers.org/clinvar/386421 ^@ NM_000038.5(APC):c.6783T>C (p.Pro2261=) http://identifiers.org/clinvar/389760 ^@ NM_001101.3(ACTB):c.783C>G (p.Leu261=) http://identifiers.org/clinvar/379874 ^@ NM_000503.5(EYA1):c.1531A>T (p.Lys511Ter) http://identifiers.org/clinvar/391199 ^@ NM_002290.4(LAMA4):c.5092-16G>A http://identifiers.org/clinvar/383230 ^@ NM_004408.3(DNM1):c.357T>C (p.Pro119=) http://identifiers.org/clinvar/377874 ^@ NM_000507.3(FBP1):c.345G>A (p.Val115=) http://identifiers.org/clinvar/133113 ^@ NM_000540.2(RYR1):c.2168-57T>G http://identifiers.org/clinvar/133163 ^@ NM_000540.2(RYR1):c.6612C>G (p.His2204Gln) http://identifiers.org/clinvar/133213 ^@ NM_000540.2(RYR1):c.7836-66A>G http://identifiers.org/clinvar/133289 ^@ NM_002633.2(PGM1):c.787G>T (p.Asp263Tyr) http://identifiers.org/clinvar/133355 ^@ NM_000545.6(HNF1A):c.1309+89_1309+90insTCATTCAT http://identifiers.org/clinvar/133405 ^@ NM_003820.3(TNFRSF14):c.305-328C>A http://identifiers.org/clinvar/133455 ^@ NM_005163.2(AKT1):c.138C>A (p.Asp46Glu) http://identifiers.org/clinvar/133505 ^@ NM_001127511.2(APC):c.78C>A (p.Ser26Arg) http://identifiers.org/clinvar/133556 ^@ NM_006015.4(ARID1A):c.2123A>C (p.Gln708Pro) http://identifiers.org/clinvar/133606 ^@ NM_000051.3(ATM):c.2336T>C (p.Met779Thr) http://identifiers.org/clinvar/133656 ^@ NM_000489.4(ATRX):c.1169G>A (p.Arg390His) http://identifiers.org/clinvar/133706 ^@ NM_000057.3(BLM):c.385_387delAAG (p.Lys130del) http://identifiers.org/clinvar/133760 ^@ NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) http://identifiers.org/clinvar/133810 ^@ NM_005188.3(CBL):c.2224C>T (p.Pro742Ser) http://identifiers.org/clinvar/133860 ^@ NM_015083.2(CDK12):c.3566T>A (p.Leu1189Gln) http://identifiers.org/clinvar/133910 ^@ NM_015125.4(CIC):c.3730C>T (p.Arg1244Trp) http://identifiers.org/clinvar/133960 ^@ NM_000107.2(DDB2):c.319G>A (p.Ala107Thr) http://identifiers.org/clinvar/134010 ^@ NM_001077706.2(ECT2L):c.614G>A (p.Arg205Gln) http://identifiers.org/clinvar/134062 ^@ NM_001429.3(EP300):c.923C>T (p.Pro308Leu) http://identifiers.org/clinvar/134112 ^@ NM_000400.3(ERCC2):c.284A>G (p.Glu95Gly) http://identifiers.org/clinvar/134162 ^@ NM_000123.3(ERCC5):c.2636A>G (p.Asn879Ser) http://identifiers.org/clinvar/134212 ^@ NM_207122.1(EXT2):c.710C>T (p.Ser237Leu) http://identifiers.org/clinvar/134262 ^@ NM_000135.2(FANCA):c.2859C>A (p.Asp953Glu) http://identifiers.org/clinvar/134313 ^@ NM_001018115.2(FANCD2):c.1777C>T (p.Pro593Ser) http://identifiers.org/clinvar/134364 ^@ NM_004629.1(FANCG):c.196G>A (p.Val66Ile) http://identifiers.org/clinvar/134414 ^@ NM_000143.3(FH):c.71C>G (p.Ser24Trp) http://identifiers.org/clinvar/135111 ^@ NM_002834.4(PTPN11):c.1594G>A (p.Glu532Lys) http://identifiers.org/clinvar/136143 ^@ NM_032043.2(BRIP1):c.1473+6A>G http://identifiers.org/clinvar/136203 ^@ NM_130838.1(UBE3A):c.2558A>T (p.Ter853Leu) http://identifiers.org/clinvar/136254 ^@ NM_014049.4(ACAD9):c.988A>C (p.Lys330Gln) http://identifiers.org/clinvar/136305 ^@ NM_020247.4(COQ8A):c.-10+8T>C http://identifiers.org/clinvar/136356 ^@ NM_000032.4(ALAS2):c.1438-16T>G http://identifiers.org/clinvar/184656 ^@ NM_001042492.2(NF1):c.8214G>A (p.Leu2738=) http://identifiers.org/clinvar/186395 ^@ NM_007294.3(BRCA1):c.4185+1G>A http://identifiers.org/clinvar/183855 ^@ NM_007294.3(BRCA1):c.3699A>G (p.Lys1233=) http://identifiers.org/clinvar/187047 ^@ NM_007294.3(BRCA1):c.3372C>T (p.Phe1124=) http://identifiers.org/clinvar/184306 ^@ NM_007294.3(BRCA1):c.1893A>C (p.Leu631=) http://identifiers.org/clinvar/186697 ^@ NM_007294.3(BRCA1):c.11C>T (p.Ser4Phe) http://identifiers.org/clinvar/184256 ^@ NM_058216.2(RAD51C):c.513C>T (p.Asp171=) http://identifiers.org/clinvar/184706 ^@ NM_032043.2(BRIP1):c.2885T>C (p.Ile962Thr) http://identifiers.org/clinvar/184606 ^@ NM_000455.4(STK11):c.1284G>C (p.Ser428=) http://identifiers.org/clinvar/184106 ^@ NM_000455.4(STK11):c.1287C>T (p.Ala429=) http://identifiers.org/clinvar/188382 ^@ NM_000251.2(MSH2):c.1670C>G (p.Thr557Ser) http://identifiers.org/clinvar/188328 ^@ NM_000051.3(ATM):c.9050T>C (p.Leu3017Pro) http://identifiers.org/clinvar/188276 ^@ NM_003119.3(SPG7):c.1672A>T (p.Lys558Ter) http://identifiers.org/clinvar/188589 ^@ NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) http://identifiers.org/clinvar/188539 ^@ NM_000256.3(MYBPC3):c.926+25C>A http://identifiers.org/clinvar/188489 ^@ NM_001110219.2(GJB6):c.326G>A (p.Gly109Glu) http://identifiers.org/clinvar/188439 ^@ NM_000059.3(BRCA2):c.8007A>G (p.Arg2669=) http://identifiers.org/clinvar/188639 ^@ NM_000257.3(MYH7):c.5012T>C (p.Ile1671Thr) http://identifiers.org/clinvar/188990 ^@ NM_014625.3(NPHS2):c.948delT (p.Ala317Leufs) http://identifiers.org/clinvar/188739 ^@ NM_000035.3(ALDOB):c.1013C>T (p.Ala338Val) http://identifiers.org/clinvar/189191 ^@ NM_000155.3(GALT):c.775C>T (p.Arg259Trp) http://identifiers.org/clinvar/188890 ^@ NM_000360.3(TH):c.1282C>T (p.Gln428Ter) http://identifiers.org/clinvar/188839 ^@ NM_000053.3(ATP7B):c.3451C>T (p.Arg1151Cys) http://identifiers.org/clinvar/189091 ^@ NM_000053.3(ATP7B):c.1782delT (p.Tyr594Terfs) http://identifiers.org/clinvar/189141 ^@ NM_000303.2(PMM2):c.620T>C (p.Phe207Ser) http://identifiers.org/clinvar/188940 ^@ NM_000049.2(ASPA):c.541C>A (p.Pro181Thr) http://identifiers.org/clinvar/189041 ^@ NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs) http://identifiers.org/clinvar/188789 ^@ NM_000159.3(GCDH):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/189311 ^@ NM_001098.2(ACO2):c.1981G>A (p.Gly661Arg) http://identifiers.org/clinvar/189393 ^@ 19p13.12 duplication http://identifiers.org/clinvar/189460 ^@ NM_000314.6(PTEN):c.74T>C (p.Leu25Ser) http://identifiers.org/clinvar/189581 ^@ NM_003159.2(CDKL5):c.-253_99+?del http://identifiers.org/clinvar/189631 ^@ NM_004992.3(MECP2):c.1012_1193del182 (p.Thr338Profs) http://identifiers.org/clinvar/189731 ^@ NM_001110792.1(MECP2):c.905_916delAGTCTTCTATCCinsCACA (p.Glu302Alafs) http://identifiers.org/clinvar/189531 ^@ NM_003159.2(CDKL5):c.145+4_145+5AT[13] http://identifiers.org/clinvar/189681 ^@ NM_004992.3:c.(?_27)_(378_1461)del http://identifiers.org/clinvar/189782 ^@ NM_138387.3(G6PC3):c.210delC (p.Phe71Serfs) http://identifiers.org/clinvar/190200 ^@ NM_001110556.1(FLNA):c.5021_5022delTG (p.Val1674Glyfs) http://identifiers.org/clinvar/190256 ^@ NM_152754.2(SEMA3D):c.592G>A (p.Glu198Lys) http://identifiers.org/clinvar/190334 ^@ NM_002055.4(GFAP):c.218T>C (p.Met73Thr) http://identifiers.org/clinvar/190391 ^@ NM_001288953.1(TTC7A):c.742-1G>T http://identifiers.org/clinvar/229256 ^@ NM_000441.1(SLC26A4):c.1969A>T (p.Ser657Cys) http://identifiers.org/clinvar/229306 ^@ NM_005422.2(TECTA):c.586G>A (p.Gly196Ser) http://identifiers.org/clinvar/229606 ^@ NM_153676.3(USH1C):c.2579C>T (p.Pro860Leu) http://identifiers.org/clinvar/229106 ^@ NM_001277269.1(OTOG):c.8054_8055delCCinsAT (p.Ala2685Asp) http://identifiers.org/clinvar/226624 ^@ NM_001201397.1(EDNRB):c.39G>T (p.Pro13=) http://identifiers.org/clinvar/227075 ^@ NM_005982.3(SIX1):c.162G>A (p.Ala54=) http://identifiers.org/clinvar/226574 ^@ NM_178452.5(DNAAF1):c.1303G>A (p.Asp435Asn) http://identifiers.org/clinvar/229356 ^@ NM_001039141.2(TRIOBP):c.4703C>G (p.Ala1568Gly) http://identifiers.org/clinvar/234674 ^@ NM_018136.4(ASPM):c.8599delC (p.Gln2867Serfs) http://identifiers.org/clinvar/234300 ^@ NM_004895.4(NLRP3):c.1070A>G (p.Lys357Arg) http://identifiers.org/clinvar/234824 ^@ NM_004321.7(KIF1A):c.1829C>T (p.Ala610Val) http://identifiers.org/clinvar/234624 ^@ NM_000179.2(MSH6):c.457+1delG http://identifiers.org/clinvar/234875 ^@ NM_000535.6(PMS2):c.1857C>A (p.Asp619Glu) http://identifiers.org/clinvar/234422 ^@ NM_001065.3(TNFRSF1A):c.334G>A (p.Val112Met) http://identifiers.org/clinvar/234774 ^@ NM_001018005.1(TPM1):c.40G>T (p.Asp14Tyr) http://identifiers.org/clinvar/234352 ^@ NM_000243.2(MEFV):c.436C>T (p.Gln146Ter) http://identifiers.org/clinvar/234472 ^@ NM_000243.2(MEFV):c.233A>G (p.Asn78Ser) http://identifiers.org/clinvar/234523 ^@ NM_014646.2(LPIN2):c.2399C>T (p.Pro800Leu) http://identifiers.org/clinvar/234574 ^@ NM_000455.4(STK11):c.734+12G>A http://identifiers.org/clinvar/234724 ^@ NM_000214.2(JAG1):c.2968A>T (p.Lys990Ter) http://identifiers.org/clinvar/229958 ^@ NM_003001.3(SDHC):c.376dupT (p.Tyr126Leufs) http://identifiers.org/clinvar/233048 ^@ NM_001128425.1(MUTYH):c.631C>T (p.Leu211Phe) http://identifiers.org/clinvar/232097 ^@ NM_000465.3(BARD1):c.1361C>T (p.Pro454Leu) http://identifiers.org/clinvar/233789 ^@ NM_000465.3(BARD1):c.1280G>T (p.Arg427Ile) http://identifiers.org/clinvar/234190 ^@ NM_000465.3(BARD1):c.1270delA (p.Arg424Glufs) http://identifiers.org/clinvar/232798 ^@ NM_000251.2(MSH2):c.-68-245C>T http://identifiers.org/clinvar/230308 ^@ NM_000251.2(MSH2):c.1067T>C (p.Ile356Thr) http://identifiers.org/clinvar/229858 ^@ NM_000179.2(MSH6):c.2588A>G (p.Glu863Gly) http://identifiers.org/clinvar/229708 ^@ NM_000179.2(MSH6):c.3279A>T (p.Gly1093=) http://identifiers.org/clinvar/234240 ^@ NM_000249.3(MLH1):c.1480T>G (p.Cys494Gly) http://identifiers.org/clinvar/229758 ^@ NM_000038.5(APC):c.568_569dupGA (p.Tyr191Asnfs) http://identifiers.org/clinvar/232247 ^@ NM_000038.5(APC):c.3925_3928delGAAA (p.Glu1309Argfs) http://identifiers.org/clinvar/233890 ^@ NM_000038.5(APC):c.4139C>T (p.Thr1380Ile) http://identifiers.org/clinvar/263833 ^@ NM_002474.2(MYH11):c.1749+4C>G http://identifiers.org/clinvar/263783 ^@ NM_020433.4(JPH2):c.1589C>T (p.Ala530Val) http://identifiers.org/clinvar/263380 ^@ NM_020433.4(JPH2):c.537T>C (p.Ser179=) http://identifiers.org/clinvar/264489 ^@ NM_006440.4(TXNRD2):c.763G>C (p.Gly255Arg) http://identifiers.org/clinvar/264083 ^@ NM_001456.3(FLNA):c.7017C>G (p.Val2339=) http://identifiers.org/clinvar/263933 ^@ NM_001456.3(FLNA):c.3420C>T (p.Phe1140=) http://identifiers.org/clinvar/264639 ^@ NM_176787.4(PIGN):c.1966C>T (p.Gln656Ter) http://identifiers.org/clinvar/264703 ^@ NM_145331.2(MAP3K7):c.328G>T (p.Gly110Cys) http://identifiers.org/clinvar/264754 ^@ NM_001242896.1(DEPDC5):c.1218-18_1218-15delTGTT http://identifiers.org/clinvar/264959 ^@ NM_000059.3(BRCA2):c.682-316G>A http://identifiers.org/clinvar/264909 ^@ NM_000059.3(BRCA2):c.9256+6870G>A http://identifiers.org/clinvar/264859 ^@ NM_007294.3(BRCA1):c.5277+2938T>C http://identifiers.org/clinvar/264809 ^@ NM_007294.3(BRCA1):c.441+52_441+63del http://identifiers.org/clinvar/265011 ^@ NM_000350.2(ABCA4):c.1529T>C (p.Leu510Pro) http://identifiers.org/clinvar/265114 ^@ NM_022336.3(EDAR):c.463G>A (p.Ala155Thr) http://identifiers.org/clinvar/265620 ^@ NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) http://identifiers.org/clinvar/265469 ^@ NM_000094.3(COL7A1):c.58C>T (p.Arg20Ter) http://identifiers.org/clinvar/265268 ^@ NM_198253.2(TERT):c.2455C>T (p.Arg819Cys) http://identifiers.org/clinvar/265164 ^@ NM_021911.2(GABRB2):c.578G>A (p.Arg193His) http://identifiers.org/clinvar/265216 ^@ NM_194456.1(KRIT1):c.1267C>T (p.Arg423Ter) http://identifiers.org/clinvar/265419 ^@ NM_133497.3(KCNV2):c.778A>T (p.Lys260Ter) http://identifiers.org/clinvar/265570 ^@ NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) http://identifiers.org/clinvar/265519 ^@ NM_003793.3(CTSF):c.1046-2A>C http://identifiers.org/clinvar/265369 ^@ NM_000059.3(BRCA2):c.1212delT (p.Asn404Lysfs) http://identifiers.org/clinvar/265064 ^@ NM_001127221.1(CACNA1A):c.3358G>A (p.Ala1120Thr) http://identifiers.org/clinvar/265319 ^@ NM_004484.3(GPC3):c.1437delC (p.Gly481Valfs) http://identifiers.org/clinvar/266630 ^@ NM_000059.3(BRCA2):c.1368_1369dupGA (p.Lys457Argfs) http://identifiers.org/clinvar/266680 ^@ NM_000059.3(BRCA2):c.2137C>T (p.Gln713Ter) http://identifiers.org/clinvar/266730 ^@ NM_000059.3(BRCA2):c.2971_2983delAACAAATGGGCAG (p.Asn991Aspfs) http://identifiers.org/clinvar/266780 ^@ NM_000059.3(BRCA2):c.3881T>G (p.Leu1294Ter) http://identifiers.org/clinvar/267030 ^@ NM_000059.3(BRCA2):c.7666_7667dupAA (p.Asn2556Lysfs) http://identifiers.org/clinvar/267080 ^@ NM_000059.3(BRCA2):c.8393_8399delCTAGACC (p.Pro2798Leufs) http://identifiers.org/clinvar/267130 ^@ NM_000059.3(BRCA2):c.9024_9046del23 (p.Tyr3009Terfs) http://identifiers.org/clinvar/266580 ^@ NM_007294.3(BRCA1):c.807_817dupGCATGTGGAGC (p.Pro273Argfs) http://identifiers.org/clinvar/267191 ^@ NC_000011.8:g.31199000_31849000del650001 http://identifiers.org/clinvar/267250 ^@ NM_015247.2(CYLD):c.2342T>C (p.Leu781Pro) http://identifiers.org/clinvar/267326 ^@ NC_000023.10:g.(?_118986730)_(119603030_?)dup http://identifiers.org/clinvar/267399 ^@ c.1563delAG http://identifiers.org/clinvar/267481 ^@ NC_000016.9:g.(?_88630607)_(89607742_?)del http://identifiers.org/clinvar/267687 ^@ NM_000059.3(BRCA2):c.793+2T>G http://identifiers.org/clinvar/267637 ^@ NM_000059.3(BRCA2):c.2778_2782delCATGGins12 (p.?) http://identifiers.org/clinvar/267537 ^@ NM_007294.3(BRCA1):c.4358-?_5193+?del http://identifiers.org/clinvar/267741 ^@ NM_007294.3(BRCA1):c.5277+2916_5277+2946delinsGG http://identifiers.org/clinvar/267587 ^@ NM_007294.3(BRCA1):c.5194-5858_5277+2206del http://identifiers.org/clinvar/267816 ^@ 46;XY;inv(5)(q13q15)dn http://identifiers.org/clinvar/267867 ^@ 46;XX;t(6;15)(q23;q22)dn http://identifiers.org/clinvar/267917 ^@ 46;X;inv(X)(p11.2;q22)dn http://identifiers.org/clinvar/267967 ^@ 46;XX;inv(6)(p22.2q23.3) http://identifiers.org/clinvar/268017 ^@ 46;XY;t(2;17)(p25;q23)dn http://identifiers.org/clinvar/268070 ^@ NC_000021.8:g.(?_35733290)_(35904053_?)dup http://identifiers.org/clinvar/268134 ^@ NM_022162.2(NOD2):c.1045C>T (p.Leu349Phe) http://identifiers.org/clinvar/291425 ^@ NM_001918.3(DBT):c.*3201G>A http://identifiers.org/clinvar/291475 ^@ NM_001854.3(COL11A1):c.*1227T>A http://identifiers.org/clinvar/291525 ^@ NM_001854.3(COL11A1):c.2143-15T>C http://identifiers.org/clinvar/291575 ^@ NM_015074.3(KIF1B):c.3726+6A>C http://identifiers.org/clinvar/291628 ^@ NM_015074.3(KIF1B):c.*2740C>A http://identifiers.org/clinvar/292367 ^@ NM_014874.3(MFN2):c.-217C>A http://identifiers.org/clinvar/292417 ^@ NM_213653.3(HFE2):c.-154C>T http://identifiers.org/clinvar/292317 ^@ NM_006623.3(PHGDH):c.1078+10G>T http://identifiers.org/clinvar/292667 ^@ NM_152263.3(TPM3):c.*2147delT http://identifiers.org/clinvar/292717 ^@ NM_001111.4(ADAR):c.*1790A>G http://identifiers.org/clinvar/292467 ^@ NM_005267.4(GJA8):c.678C>A (p.His226Gln) http://identifiers.org/clinvar/292767 ^@ NM_001111.4(ADAR):c.2306T>C (p.Phe769Ser) http://identifiers.org/clinvar/292267 ^@ NM_000198.3(HSD3B2):c.1056C>G (p.Thr352=) http://identifiers.org/clinvar/293067 ^@ NM_003126.2(SPTA1):c.-126_-125insTC http://identifiers.org/clinvar/293167 ^@ NM_000702.3(ATP1A2):c.*1245A>C http://identifiers.org/clinvar/293217 ^@ NM_002857.3(PEX19):c.*662C>T http://identifiers.org/clinvar/293267 ^@ NM_004550.4(NDUFS2):c.-156G>A http://identifiers.org/clinvar/293367 ^@ NM_003001.3(SDHC):c.*2236C>A http://identifiers.org/clinvar/292567 ^@ NM_019032.5(ADAMTSL4):c.3179G>A (p.Arg1060His) http://identifiers.org/clinvar/292517 ^@ NM_019032.5(ADAMTSL4):c.130G>A (p.Glu44Lys) http://identifiers.org/clinvar/292617 ^@ NM_000449.3(RFX5):c.590G>A (p.Arg197Gln) http://identifiers.org/clinvar/293467 ^@ NM_005149.2(TBX19):c.603+47_603+48delGT http://identifiers.org/clinvar/292817 ^@ NM_000298.5(PKLR):c.188C>G (p.Ala63Gly) http://identifiers.org/clinvar/293567 ^@ NM_000130.4(F5):c.*216T>A http://identifiers.org/clinvar/293617 ^@ NM_000130.4(F5):c.2868T>C (p.Tyr956=) http://identifiers.org/clinvar/292917 ^@ NM_003126.2(SPTA1):c.*500delT http://identifiers.org/clinvar/292867 ^@ NM_022367.3(SEMA4A):c.*538T>C http://identifiers.org/clinvar/292967 ^@ NM_003126.2(SPTA1):c.5581C>A (p.His1861Asn) http://identifiers.org/clinvar/293117 ^@ NM_002241.4(KCNJ10):c.*21A>G http://identifiers.org/clinvar/293017 ^@ NM_003126.2(SPTA1):c.2353C>A (p.Arg785=) http://identifiers.org/clinvar/293317 ^@ NM_003001.3(SDHC):c.77+13G>C http://identifiers.org/clinvar/293417 ^@ NM_004431.4(EPHA2):c.1951G>A (p.Gly651Ser) http://identifiers.org/clinvar/293517 ^@ NM_006996.2(SLC19A2):c.*627C>T http://identifiers.org/clinvar/336322 ^@ NM_001430.4(EPAS1):c.*1827C>T http://identifiers.org/clinvar/336122 ^@ NM_133259.3(LRPPRC):c.*1445_*1456dupTTTTTTTTTTTT http://identifiers.org/clinvar/336372 ^@ NM_139279.5(MCFD2):c.*498A>G http://identifiers.org/clinvar/336429 ^@ NM_000251.2(MSH2):c.1076+4T>A http://identifiers.org/clinvar/336929 ^@ NM_001692.3(ATP6V1B1):c.*53G>A http://identifiers.org/clinvar/336829 ^@ NM_002056.3(GFPT1):c.*2669C>T http://identifiers.org/clinvar/337029 ^@ NM_015120.4(ALMS1):c.9541C>A (p.Arg3181=) http://identifiers.org/clinvar/345758 ^@ NM_002222.5(ITPR1):c.6723G>A (p.Pro2241=) http://identifiers.org/clinvar/337329 ^@ NM_003896.3(ST3GAL5):c.*323C>G http://identifiers.org/clinvar/345908 ^@ NM_002222.5(ITPR1):c.*777C>T http://identifiers.org/clinvar/337129 ^@ NM_013247.4(HTRA2):c.480C>G (p.Ala160=) http://identifiers.org/clinvar/345858 ^@ NM_000094.3(COL7A1):c.3412G>A (p.Val1138Met) http://identifiers.org/clinvar/345708 ^@ NM_002222.5(ITPR1):c.1881C>T (p.Asn627=) http://identifiers.org/clinvar/346747 ^@ NM_002942.4(ROBO2):c.*2195C>T http://identifiers.org/clinvar/346797 ^@ NM_000158.3(GBE1):c.-102C>T http://identifiers.org/clinvar/346997 ^@ NM_000097.5(CPOX):c.-10G>A http://identifiers.org/clinvar/345808 ^@ NM_000094.3(COL7A1):c.7408C>A (p.Pro2470Thr) http://identifiers.org/clinvar/346058 ^@ NM_144499.2(GNAT1):c.*183C>G http://identifiers.org/clinvar/342809 ^@ NM_000388.3(CASR):c.*188dupA http://identifiers.org/clinvar/347647 ^@ NM_172250.2(MMAA):c.*2608T>C http://identifiers.org/clinvar/347747 ^@ NM_000901.4(NR3C2):c.-275C>T http://identifiers.org/clinvar/348047 ^@ NM_001166108.1(PALLD):c.3359-4G>A http://identifiers.org/clinvar/353914 ^@ NM_001104631.1(PDE4D):c.*5118T>G http://identifiers.org/clinvar/353964 ^@ NM_001104631.1(PDE4D):c.*1361C>T http://identifiers.org/clinvar/354064 ^@ NM_017755.5(NSUN2):c.-13G>C http://identifiers.org/clinvar/358264 ^@ NM_014165.3(NDUFAF4):c.*382T>A http://identifiers.org/clinvar/358364 ^@ NM_198999.2(SLC26A5):c.-191C>T http://identifiers.org/clinvar/358414 ^@ NM_005045.3(RELN):c.1344C>G (p.Gly448=) http://identifiers.org/clinvar/358514 ^@ NM_000441.1(SLC26A4):c.*840C>T http://identifiers.org/clinvar/354114 ^@ NM_022132.4(MCCC2):c.*699T>C http://identifiers.org/clinvar/354164 ^@ NM_003719.3(PDE8B):c.1764A>G (p.Glu588=) http://identifiers.org/clinvar/362552 ^@ NM_003018.3(SFTPC):c.43-7G>A http://identifiers.org/clinvar/354214 ^@ NM_003664.4(AP3B1):c.*447C>T http://identifiers.org/clinvar/354314 ^@ NM_000046.3(ARSB):c.406G>A (p.Ala136Thr) http://identifiers.org/clinvar/358964 ^@ NM_005989.3(AKR1D1):c.*417A>G http://identifiers.org/clinvar/363152 ^@ NM_152419.2(HGSNAT):c.1693G>C (p.Gly565Arg) http://identifiers.org/clinvar/363202 ^@ NM_005914.3(MCM4):c.-347C>A http://identifiers.org/clinvar/363352 ^@ NM_017813.4(IMPAD1):c.*3235A>C http://identifiers.org/clinvar/359603 ^@ NM_001277115.1(DNAH11):c.1170G>A (p.Glu390=) http://identifiers.org/clinvar/359653 ^@ NM_001277115.1(DNAH11):c.7800T>C (p.Asp2600=) http://identifiers.org/clinvar/359703 ^@ NM_001277115.1(DNAH11):c.*105C>G http://identifiers.org/clinvar/359853 ^@ NM_004403.2(DFNA5):c.544G>A (p.Gly182Ser) http://identifiers.org/clinvar/364491 ^@ NM_001079802.1(FKTN):c.*324G>C http://identifiers.org/clinvar/360403 ^@ NM_014855.2(AP5Z1):c.*2286G>A http://identifiers.org/clinvar/364941 ^@ NM_002316.3(LMX1B):c.*1676G>A http://identifiers.org/clinvar/365241 ^@ NM_054012.3(ASS1):c.-242G>C http://identifiers.org/clinvar/365441 ^@ NM_000368.4(TSC1):c.*2658G>T http://identifiers.org/clinvar/365491 ^@ NM_000368.4(TSC1):c.*682C>T http://identifiers.org/clinvar/365641 ^@ NM_000787.3(DBH):c.631G>A (p.Ala211Thr) http://identifiers.org/clinvar/365691 ^@ NM_000787.3(DBH):c.*431C>T http://identifiers.org/clinvar/357114 ^@ NM_001024630.3(RUNX2):c.*1455C>T http://identifiers.org/clinvar/303133 ^@ NM_018400.3(SCN3B):c.*4361T>C http://identifiers.org/clinvar/367281 ^@ NM_017662.4(TRPM6):c.*787T>A http://identifiers.org/clinvar/303283 ^@ NM_022370.3(ROBO3):c.4150-8C>T http://identifiers.org/clinvar/311392 ^@ NM_006783.4(GJB6):c.-227C>T http://identifiers.org/clinvar/303683 ^@ NM_014384.2(ACAD8):c.842-8C>G http://identifiers.org/clinvar/303783 ^@ NM_000352.4(ABCC8):c.1537G>A (p.Ala513Thr) http://identifiers.org/clinvar/303883 ^@ NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) http://identifiers.org/clinvar/303933 ^@ NM_005566.3(LDHA):c.*835A>G http://identifiers.org/clinvar/303983 ^@ NM_004211.4(SLC6A5):c.-239A>G http://identifiers.org/clinvar/298505 ^@ NM_021830.4(TWNK):c.*204G>A http://identifiers.org/clinvar/298655 ^@ NM_017649.4(CNNM2):c.*311G>A http://identifiers.org/clinvar/312531 ^@ NM_005708.4(GPC6):c.-320C>A http://identifiers.org/clinvar/298805 ^@ NM_001134363.2(RBM20):c.*72T>G http://identifiers.org/clinvar/312681 ^@ NM_022489.3(INF2):c.986-14A>G http://identifiers.org/clinvar/298855 ^@ NM_001134363.2(RBM20):c.*3250A>G http://identifiers.org/clinvar/312931 ^@ NM_006177.3(NRL):c.*558C>T http://identifiers.org/clinvar/298955 ^@ NM_004281.3(BAG3):c.381A>T (p.Ala127=) http://identifiers.org/clinvar/299005 ^@ NM_000141.4(FGFR2):c.1085-13A>T http://identifiers.org/clinvar/299055 ^@ NM_002775.4(HTRA1):c.1274+14G>A http://identifiers.org/clinvar/313181 ^@ NM_006194.3(PAX9):c.*518_*521delTTTG http://identifiers.org/clinvar/298705 ^@ NM_000494.3(COL17A1):c.2755G>A (p.Asp919Asn) http://identifiers.org/clinvar/304683 ^@ NM_021926.3(ALX4):c.*807_*809delAAG http://identifiers.org/clinvar/313231 ^@ NM_020937.3(FANCM):c.*140_*144delGATTA http://identifiers.org/clinvar/313331 ^@ NM_002863.4(PYGL):c.611A>G (p.Tyr204Cys) http://identifiers.org/clinvar/313381 ^@ NM_000161.2(GCH1):c.*617A>G http://identifiers.org/clinvar/299105 ^@ NM_001609.3(ACADSB):c.*497C>T http://identifiers.org/clinvar/299355 ^@ NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) http://identifiers.org/clinvar/314420 ^@ NM_017791.2(FLVCR2):c.*18C>T http://identifiers.org/clinvar/314520 ^@ NM_013382.5(POMT2):c.*1742G>A http://identifiers.org/clinvar/305724 ^@ NM_003977.3(AIP):c.68G>A (p.Gly23Glu) http://identifiers.org/clinvar/314770 ^@ NM_000153.3(GALC):c.-85T>A http://identifiers.org/clinvar/305774 ^@ NM_002496.3(NDUFS8):c.*14C>T http://identifiers.org/clinvar/305824 ^@ NM_006019.3(TCIRG1):c.2476G>A (p.Ala826Thr) http://identifiers.org/clinvar/315070 ^@ NM_177438.2(DICER1):c.*2050G>C http://identifiers.org/clinvar/306024 ^@ NM_016725.2(FOLR1):c.168+3G>A http://identifiers.org/clinvar/306074 ^@ NM_005472.4(KCNE3):c.*457C>T http://identifiers.org/clinvar/315270 ^@ NM_139057.3(ADAMTS17):c.2112C>T (p.Gly704=) http://identifiers.org/clinvar/309637 ^@ NM_006121.3(KRT1):c.1898A>G (p.Lys633Arg) http://identifiers.org/clinvar/309687 ^@ NM_002272.3(KRT4):c.678-14G>A http://identifiers.org/clinvar/317710 ^@ NM_000246.3(CIITA):c.2394G>A (p.Pro798=) http://identifiers.org/clinvar/317810 ^@ NM_005236.2(ERCC4):c.1217A>G (p.Gln406Arg) http://identifiers.org/clinvar/311292 ^@ NM_021954.3(GJA3):c.*2864T>C http://identifiers.org/clinvar/318060 ^@ NM_001143979.1(NDE1):c.436A>T (p.Ile146Phe) http://identifiers.org/clinvar/310137 ^@ NM_001038.5(SCNN1A):c.1485G>T (p.Ser495=) http://identifiers.org/clinvar/330282 ^@ NM_000064.3(C3):c.4457-4G>A http://identifiers.org/clinvar/330382 ^@ NM_000208.3(INSR):c.*2565C>T http://identifiers.org/clinvar/310742 ^@ NM_018979.3(WNK1):c.2020A>G (p.Thr674Ala) http://identifiers.org/clinvar/312281 ^@ NM_000321.2(RB1):c.-69G>C http://identifiers.org/clinvar/312381 ^@ NM_000053.3(ATP7B):c.3396C>T (p.Ser1132=) http://identifiers.org/clinvar/310892 ^@ NM_004115.3(FGF14):c.*31G>A http://identifiers.org/clinvar/312431 ^@ NM_006493.2(CLN5):c.*158C>G http://identifiers.org/clinvar/312781 ^@ NM_020366.3(RPGRIP1):c.310G>C (p.Gly104Arg) http://identifiers.org/clinvar/312831 ^@ NM_001126106.2(SLC7A7):c.-73G>A http://identifiers.org/clinvar/311342 ^@ NM_021954.3(GJA3):c.780G>A (p.Arg260=) http://identifiers.org/clinvar/339219 ^@ NM_017671.4(FERMT1):c.1074A>G (p.Lys358=) http://identifiers.org/clinvar/313431 ^@ NM_007374.2(SIX6):c.573-6C>G http://identifiers.org/clinvar/339319 ^@ NM_001853.3(COL9A3):c.*319A>C http://identifiers.org/clinvar/339519 ^@ NM_015192.3(PLCB1):c.*97A>G http://identifiers.org/clinvar/312231 ^@ NM_003701.3(TNFSF11):c.239C>T (p.Ser80Leu) http://identifiers.org/clinvar/339819 ^@ NM_001754.4(RUNX1):c.*2822C>T http://identifiers.org/clinvar/339869 ^@ NM_001754.4(RUNX1):c.*113C>T http://identifiers.org/clinvar/339919 ^@ NM_000411.6(HLCS):c.*2624G>A http://identifiers.org/clinvar/339969 ^@ NM_000411.6(HLCS):c.282C>A (p.Gly94=) http://identifiers.org/clinvar/312331 ^@ NM_024570.3(RNASEH2B):c.699-11A>G http://identifiers.org/clinvar/340319 ^@ NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val) http://identifiers.org/clinvar/312581 ^@ NM_005708.4(GPC6):c.*1473T>C http://identifiers.org/clinvar/326404 ^@ NM_024422.4(DSC2):c.-366A>G http://identifiers.org/clinvar/342159 ^@ NM_001953.4(TYMP):c.-150C>G http://identifiers.org/clinvar/342209 ^@ NM_000487.5(ARSA):c.*1212T>G http://identifiers.org/clinvar/328593 ^@ NM_005535.2(IL12RB1):c.712C>G (p.Gln238Glu) http://identifiers.org/clinvar/329093 ^@ NM_000540.2(RYR1):c.9825C>T (p.Pro3275=) http://identifiers.org/clinvar/329143 ^@ NM_033064.4(ATCAY):c.478G>A (p.Gly160Arg) http://identifiers.org/clinvar/327493 ^@ NM_005603.4(ATP8B1):c.394-7C>T http://identifiers.org/clinvar/368520 ^@ NM_000084.4(CLCN5):c.*4192C>T http://identifiers.org/clinvar/328043 ^@ NM_001128849.1(SMARCA4):c.*25C>T http://identifiers.org/clinvar/329982 ^@ NM_030657.3(LIM2):c.-41G>A http://identifiers.org/clinvar/330032 ^@ NM_144687.3(NLRP12):c.1347C>G (p.Ala449=) http://identifiers.org/clinvar/328193 ^@ NM_002743.3(PRKCSH):c.1271T>C (p.Val424Ala) http://identifiers.org/clinvar/330182 ^@ NM_206828.3(NLRP7):c.445G>A (p.Asp149Asn) http://identifiers.org/clinvar/328343 ^@ NM_000156.5(GAMT):c.*311C>G http://identifiers.org/clinvar/328443 ^@ NM_173483.3(CYP4F22):c.989A>T (p.Asp330Val) http://identifiers.org/clinvar/328543 ^@ NM_000453.2(SLC5A5):c.1632C>G (p.Ala544=) http://identifiers.org/clinvar/330582 ^@ NM_030957.3(ADAMTS10):c.2584G>T (p.Ala862Ser) http://identifiers.org/clinvar/328943 ^@ NM_032753.3(RAX2):c.*1324A>G http://identifiers.org/clinvar/339169 ^@ NM_017671.4(FERMT1):c.*2124delC http://identifiers.org/clinvar/339369 ^@ NM_025219.2(DNAJC5):c.*686C>T http://identifiers.org/clinvar/330232 ^@ NM_001015878.1(AURKC):c.621G>A (p.Pro207=) http://identifiers.org/clinvar/339469 ^@ NM_012469.3(PRPF6):c.1103A>G (p.His368Arg) http://identifiers.org/clinvar/330332 ^@ NM_000064.3(C3):c.912G>A (p.Arg304=) http://identifiers.org/clinvar/339569 ^@ NM_000933.3(PLCB4):c.1797C>T (p.Val599=) http://identifiers.org/clinvar/340119 ^@ NM_000100.3(CSTB):c.*74T>C http://identifiers.org/clinvar/341009 ^@ NM_022081.5(HPS4):c.1232G>A (p.Ser411Asn) http://identifiers.org/clinvar/339069 ^@ NM_001001433.2(STX16):c.*1049G>A http://identifiers.org/clinvar/341109 ^@ NM_000268.3(NF2):c.*1320_*1325delGGAGTG http://identifiers.org/clinvar/339119 ^@ NM_207034.2(EDN3):c.-77T>A http://identifiers.org/clinvar/341209 ^@ NM_000355.3(TCN2):c.1017C>G (p.Leu339=) http://identifiers.org/clinvar/339269 ^@ NM_001853.3(COL9A3):c.230G>A (p.Gly77Glu) http://identifiers.org/clinvar/341259 ^@ NM_000343.3(SLC5A1):c.1763T>C (p.Ile588Thr) http://identifiers.org/clinvar/341309 ^@ NM_012179.3(FBXO7):c.358C>T (p.Pro120Ser) http://identifiers.org/clinvar/339419 ^@ NM_025219.2(DNAJC5):c.*3009G>A http://identifiers.org/clinvar/341409 ^@ NM_000362.4(TIMP3):c.*3482C>T http://identifiers.org/clinvar/339619 ^@ NM_000484.3(APP):c.*1015T>G http://identifiers.org/clinvar/339669 ^@ NM_000454.4(SOD1):c.423T>A (p.Ala141=) http://identifiers.org/clinvar/339719 ^@ NM_172201.1(KCNE2):c.*62G>A http://identifiers.org/clinvar/341759 ^@ NM_022098.3(XPNPEP3):c.*5915dupT http://identifiers.org/clinvar/386571 ^@ NM_001458.4(FLNC):c.4153C>T (p.Leu1385=) http://identifiers.org/clinvar/391649 ^@ NM_000051.3(ATM):c.4237-19A>C http://identifiers.org/clinvar/389410 ^@ NM_213649.1(SFXN4):c.415-14G>T http://identifiers.org/clinvar/383380 ^@ NM_000051.3(ATM):c.7470C>G (p.Leu2490=) http://identifiers.org/clinvar/377524 ^@ NM_000051.3(ATM):c.8850+17G>A http://identifiers.org/clinvar/391749 ^@ NM_001909.4(CTSD):c.1071+9G>A http://identifiers.org/clinvar/383179 ^@ NM_020987.4(ANK3):c.11426C>T (p.Thr3809Ile) http://identifiers.org/clinvar/379323 ^@ NM_032578.3(MYPN):c.2925+20A>C http://identifiers.org/clinvar/379073 ^@ NM_005751.4(AKAP9):c.4872A>G (p.Glu1624=) http://identifiers.org/clinvar/388560 ^@ NM_000314.6(PTEN):c.165-17G>C http://identifiers.org/clinvar/377824 ^@ NM_004092.3(ECHS1):c.404A>G (p.Asn135Ser) http://identifiers.org/clinvar/388160 ^@ NM_000051.3(ATM):c.2125-16T>C http://identifiers.org/clinvar/390949 ^@ NM_003476.4(CSRP3):c.108C>T (p.His36=) http://identifiers.org/clinvar/391449 ^@ NM_138361.5(LRSAM1):c.2047-15G>A http://identifiers.org/clinvar/378923 ^@ NM_018400.3(SCN3B):c.445+3G>A http://identifiers.org/clinvar/380425 ^@ NM_001909.4(CTSD):c.828-5C>T http://identifiers.org/clinvar/385971 ^@ NM_007171.3(POMT1):c.921+6T>C http://identifiers.org/clinvar/379523 ^@ NM_000020.2(ACVRL1):c.1247-15A>G http://identifiers.org/clinvar/388110 ^@ NM_016725.2(FOLR1):c.192C>T (p.Ala64=) http://identifiers.org/clinvar/377724 ^@ NM_000093.4(COL5A1):c.2701-12C>G http://identifiers.org/clinvar/377423 ^@ NM_000017.3(ACADS):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/386071 ^@ NM_025215.5(PUS1):c.441+3G>T http://identifiers.org/clinvar/389510 ^@ NM_020822.2(KCNT1):c.3555G>T (p.Pro1185=) http://identifiers.org/clinvar/389660 ^@ NM_017617.4(NOTCH1):c.6582C>T (p.Ser2194=) http://identifiers.org/clinvar/386271 ^@ NM_006231.3(POLE):c.1740C>T (p.His580=) http://identifiers.org/clinvar/386671 ^@ NM_021625.4(TRPV4):c.1038C>T (p.Tyr346=) http://identifiers.org/clinvar/382979 ^@ NM_021957.3(GYS2):c.942-18G>T http://identifiers.org/clinvar/388860 ^@ NM_001376.4(DYNC1H1):c.8550C>A (p.Ile2850=) http://identifiers.org/clinvar/386871 ^@ NM_001376.4(DYNC1H1):c.8847C>T (p.Phe2949=) http://identifiers.org/clinvar/388710 ^@ NM_006231.3(POLE):c.6137-7C>T http://identifiers.org/clinvar/379974 ^@ NM_016417.2(GLRX5):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/391499 ^@ NM_000552.4(VWF):c.1817G>A (p.Arg606Gln) http://identifiers.org/clinvar/379623 ^@ NM_000051.3(ATM):c.8641C>T (p.Gln2881Ter) http://identifiers.org/clinvar/386721 ^@ NM_001382.3(DPAGT1):c.243C>T (p.Cys81=) http://identifiers.org/clinvar/387021 ^@ NM_001482.2(GATM):c.255C>T (p.Asn85=) http://identifiers.org/clinvar/383129 ^@ NM_001271.3(CHD2):c.4953C>T (p.Gly1651=) http://identifiers.org/clinvar/47436 ^@ NM_133378.4(TTN):c.76749A>G (p.Pro25583=) http://identifiers.org/clinvar/47486 ^@ NM_133378.4(TTN):c.81493_81493+2delGGT http://identifiers.org/clinvar/47536 ^@ NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) http://identifiers.org/clinvar/47586 ^@ NM_133378.4(TTN):c.89909G>A (p.Arg29970His) http://identifiers.org/clinvar/47636 ^@ NM_133378.4(TTN):c.9359G>A (p.Arg3120Gln) http://identifiers.org/clinvar/47686 ^@ NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) http://identifiers.org/clinvar/47736 ^@ NM_133378.4(TTN):c.10360+1964A>G http://identifiers.org/clinvar/47786 ^@ NM_133378.4(TTN):c.10360+6140G>T http://identifiers.org/clinvar/47836 ^@ NM_001256850.1(TTN):c.12267C>T (p.Ala4089=) http://identifiers.org/clinvar/47886 ^@ NM_144573.3(NEXN):c.1053+1G>A http://identifiers.org/clinvar/47936 ^@ NM_144612.6(LOXHD1):c.3999C>T (p.Cys1333=) http://identifiers.org/clinvar/47986 ^@ NM_153676.3(USH1C):c.1906C>T (p.Arg636Cys) http://identifiers.org/clinvar/48038 ^@ NM_005572.3(LMNA):c.1363C>T (p.Arg455Cys) http://identifiers.org/clinvar/48088 ^@ NM_005572.3(LMNA):c.861T>C (p.Ala287=) http://identifiers.org/clinvar/48138 ^@ NM_173477.4(USH1G):c.770G>T (p.Arg257Leu) http://identifiers.org/clinvar/48188 ^@ NM_194322.2(OTOF):c.126C>G (p.Thr42=) http://identifiers.org/clinvar/48238 ^@ NM_194248.2(OTOF):c.4582G>A (p.Asp1528Asn) http://identifiers.org/clinvar/48288 ^@ NM_000335.4(SCN5A):c.1653G>A (p.Ala551=) http://identifiers.org/clinvar/48339 ^@ NM_001167962.1(SLC26A5):c.403+14T>C http://identifiers.org/clinvar/48389 ^@ NM_206933.2(USH2A):c.12067-1G>C http://identifiers.org/clinvar/48439 ^@ NM_206933.2(USH2A):c.14513G>A (p.Gly4838Glu) http://identifiers.org/clinvar/48489 ^@ NM_206933.2(USH2A):c.264C>G (p.Cys88Trp) http://identifiers.org/clinvar/268 ^@ NM_001134363.2(RBM20):c.1913C>T (p.Pro638Leu) http://identifiers.org/clinvar/338 ^@ NM_000267.3(NF1):c.5465_5466insT (p.Lys1823Glnfs) http://identifiers.org/clinvar/347 ^@ NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) http://identifiers.org/clinvar/470 ^@ ALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8 http://identifiers.org/clinvar/520 ^@ NM_001999.3(FBN2):c.1171G>A (p.Glu391Lys) http://identifiers.org/clinvar/548 ^@ NM_000140.3(FECH):c.163G>T (p.Gly55Cys) http://identifiers.org/clinvar/734 ^@ NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu) http://identifiers.org/clinvar/743 ^@ NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) http://identifiers.org/clinvar/752 ^@ NM_015346.3(ZFYVE26):c.1477C>T (p.Gln493Ter) http://identifiers.org/clinvar/761 ^@ NM_015702.2(MMADHC):c.776T>C (p.Leu259Pro) http://identifiers.org/clinvar/770 ^@ NM_198488.3(FAM83H):c.973C>T (p.Arg325Ter) http://identifiers.org/clinvar/870 ^@ NM_001127628.1(FBP1):c.88G>T (p.Glu30Ter) http://identifiers.org/clinvar/911 ^@ NM_173483.3(CYP4F22):c.728G>A (p.Arg243His) http://identifiers.org/clinvar/958 ^@ NM_000275.2(OCA2):c.1001C>T (p.Ala334Val) http://identifiers.org/clinvar/1117 ^@ NM_025137.3(SPG11):c.3075dupA (p.Glu1026Argfs) http://identifiers.org/clinvar/1126 ^@ NM_015139.2(SLC35D1):c.319C>T (p.Arg107Ter) http://identifiers.org/clinvar/2039 ^@ NM_133263.3(PPARGC1B):c.607G>C (p.Ala203Pro) http://identifiers.org/clinvar/2084 ^@ NM_000159.3(GCDH):c.1247C>T (p.Thr416Ile) http://identifiers.org/clinvar/2449 ^@ NM_000434.3(NEU1):c.649G>A (p.Val217Met) http://identifiers.org/clinvar/2495 ^@ NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) http://identifiers.org/clinvar/2540 ^@ NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) http://identifiers.org/clinvar/2589 ^@ NM_198586.2(NHLRC1):c.992delG (p.Gly331Glufs) http://identifiers.org/clinvar/2633 ^@ NM_153240.4(NPHP3):c.1079G>C (p.Ser360Thr) http://identifiers.org/clinvar/2726 ^@ NM_177986.4(DSG4):c.865C>T (p.Arg289Ter) http://identifiers.org/clinvar/2771 ^@ NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) http://identifiers.org/clinvar/2816 ^@ NM_025074.6(FRAS1):c.7522+1G>T http://identifiers.org/clinvar/2861 ^@ NM_173076.2(ABCA12):c.7093G>A (p.Asp2365Asn) http://identifiers.org/clinvar/2907 ^@ NM_004817.3(TJP2):c.143T>C (p.Val48Ala) http://identifiers.org/clinvar/2952 ^@ RAI1, 19-BP DEL http://identifiers.org/clinvar/2999 ^@ NM_000226.3(KRT9):c.481A>T (p.Asn161Tyr) http://identifiers.org/clinvar/3045 ^@ NM_000051.3(ATM):c.8030A>G (p.Tyr2677Cys) http://identifiers.org/clinvar/3092 ^@ NM_000487.5(ARSA):c.1229C>T (p.Thr410Ile) http://identifiers.org/clinvar/3144 ^@ NM_000218.2(KCNQ1):c.805G>A (p.Gly269Ser) http://identifiers.org/clinvar/3192 ^@ DYM, IVS5AS, A-G, -2 http://identifiers.org/clinvar/3239 ^@ NM_007171.3(POMT1):c.907C>T (p.Gln303Ter) http://identifiers.org/clinvar/3286 ^@ NM_000268.3(NF2):c.1604T>C (p.Leu535Pro) http://identifiers.org/clinvar/3330 ^@ SALL4, 1-BP DEL, 2607A http://identifiers.org/clinvar/132156 ^@ NM_005458.7(GABBR2):c.360A>G (p.Ala120=) http://identifiers.org/clinvar/11123 ^@ NM_000377.2(WAS):c.134C>T (p.Thr45Met) http://identifiers.org/clinvar/11214 ^@ DMD, EX73-76DEL http://identifiers.org/clinvar/11304 ^@ NM_000033.3(ABCD1):c.1429G>T (p.Glu477Ter) http://identifiers.org/clinvar/11350 ^@ BTK, ALA-ASP, 1952C-A http://identifiers.org/clinvar/11396 ^@ BTK, IVS1DS, G-A, +5 http://identifiers.org/clinvar/11709 ^@ NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) http://identifiers.org/clinvar/11760 ^@ FLNA, 7315C-A http://identifiers.org/clinvar/11811 ^@ NM_004992.3(MECP2):c.473C>T (p.Thr158Met) http://identifiers.org/clinvar/11861 ^@ MYO7A, IVS27AS, G-C, -1 http://identifiers.org/clinvar/11961 ^@ NM_014425.4(INVS):c.2719C>T (p.Arg907Ter) http://identifiers.org/clinvar/12013 ^@ PCCB, 12-BP INS, 14-BP DEL, NT1218 http://identifiers.org/clinvar/12063 ^@ F10, GLU7GLY http://identifiers.org/clinvar/12113 ^@ NM_000065.3(C6):c.293A>C (p.Glu98Ala) http://identifiers.org/clinvar/12163 ^@ CYP21A2, TYR102ARG http://identifiers.org/clinvar/12218 ^@ NM_000490.4(AVP):c.200T>C (p.Val67Ala) http://identifiers.org/clinvar/12269 ^@ NM_000463.2(UGT1A1):c.1021C>T (p.Arg341Ter) http://identifiers.org/clinvar/12321 ^@ NC_000008.11:g.11573132C>T http://identifiers.org/clinvar/12372 ^@ NM_000546.5(TP53):c.770T>A (p.Leu257Gln) http://identifiers.org/clinvar/12423 ^@ NM_000363.4(TNNI3):c.569A>G (p.Asp190Gly) http://identifiers.org/clinvar/12474 ^@ NM_003239.4(TGFB3):c.-30G>A http://identifiers.org/clinvar/12524 ^@ NM_004612.3(TGFBR1):c.722C>T (p.Ser241Leu) http://identifiers.org/clinvar/12574 ^@ NM_002467.4(MYC):c.214C>T (p.Pro72Ser) http://identifiers.org/clinvar/12625 ^@ NM_007313.2(ABL1):c.764A>T (p.Glu255Val) http://identifiers.org/clinvar/12675 ^@ NM_212472.2(PRKAR1A):c.709-7_709-2delTTTTTA http://identifiers.org/clinvar/12727 ^@ NM_000367.4(TPMT):c.500C>G (p.Ala167Gly) http://identifiers.org/clinvar/12777 ^@ NM_003102.2(SOD3):c.691C>G (p.Arg231Gly) http://identifiers.org/clinvar/12827 ^@ SOX2, 17-BP DEL, NT70 http://identifiers.org/clinvar/13428 ^@ NM_000371.3(TTR):c.185A>G (p.Glu62Gly) http://identifiers.org/clinvar/13480 ^@ NM_000217.2(KCNA1):c.1223T>C (p.Val408Ala) http://identifiers.org/clinvar/13530 ^@ NM_000174.4(GP9):c.110A>G (p.Asp37Gly) http://identifiers.org/clinvar/38624 ^@ NM_020975.4(RET):c.1896_1900delGCTGTinsCGTGC (p.Glu632_Cys634delinsAspValArg) http://identifiers.org/clinvar/38778 ^@ NM_000495.3(COL4A5):c.[3837_3845del;3857dupA] http://identifiers.org/clinvar/38902 ^@ NM_000660.6(TGFB1):c.74G>C (p.Arg25Pro) http://identifiers.org/clinvar/38952 ^@ NM_001363.4(DKC1):c.838A>C (p.Ser280Arg) http://identifiers.org/clinvar/39004 ^@ NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760) http://identifiers.org/clinvar/39054 ^@ NM_024312.4(GNPTAB):c.2544delA (p.Glu849Lysfs) http://identifiers.org/clinvar/39108 ^@ NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) http://identifiers.org/clinvar/39161 ^@ NM_198578.3(LRRK2):c.3200G>A (p.Arg1067Gln) http://identifiers.org/clinvar/39211 ^@ NM_198578.3(LRRK2):c.546A>G (p.Lys182=) http://identifiers.org/clinvar/39262 ^@ NM_207352.3(CYP4V2):c.327+1G>A http://identifiers.org/clinvar/39423 ^@ NM_001204.6(BMPR2):c.583G>T (p.Glu195Ter) http://identifiers.org/clinvar/39475 ^@ NM_001567.3(INPPL1):c.768delA (p.Glu258Serfs) http://identifiers.org/clinvar/39526 ^@ NM_000359.2(TGM1):c.614T>A (p.Leu205Gln) http://identifiers.org/clinvar/39576 ^@ NM_024531.4(SLC52A2):c.368T>C (p.Leu123Pro) http://identifiers.org/clinvar/39628 ^@ CHD8, NT3519, A-G, -2 http://identifiers.org/clinvar/39678 ^@ DDHD2, 1-BP DUP, 138C http://identifiers.org/clinvar/39730 ^@ NM_000431.3(MVK):c.1094T>C (p.Phe365Ser) http://identifiers.org/clinvar/39781 ^@ NM_017410.2(HOXC13):c.390C>A (p.Tyr130Ter) http://identifiers.org/clinvar/39832 ^@ NM_003280.2(TNNC1):c.91G>T (p.Ala31Ser) http://identifiers.org/clinvar/39975 ^@ NM_172171.2(CAMK2G):c.875G>C (p.Arg292Pro) http://identifiers.org/clinvar/40078 ^@ NM_001142617.1(STRA6):c.1678G>C (p.Asp560His) http://identifiers.org/clinvar/40230 ^@ NM_001174051.2(CACNA2D2):c.3140T>C (p.Leu1047Pro) http://identifiers.org/clinvar/51167 ^@ NM_000059.3(BRCA2):c.164A>G (p.Asn55Ser) http://identifiers.org/clinvar/52029 ^@ NM_000059.3(BRCA2):c.6201delC (p.Ile2068Phefs) http://identifiers.org/clinvar/52082 ^@ NM_000059.3(BRCA2):c.6401_6404delATAA (p.Asn2134Thrfs) http://identifiers.org/clinvar/52134 ^@ NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) http://identifiers.org/clinvar/52185 ^@ NM_000059.3(BRCA2):c.67G>T (p.Asp23Tyr) http://identifiers.org/clinvar/52236 ^@ NM_000059.3(BRCA2):c.7004_7007+2delTTCGGT http://identifiers.org/clinvar/52287 ^@ NM_000059.3(BRCA2):c.7208_7211delCCAA (p.Thr2403Lysfs) http://identifiers.org/clinvar/52337 ^@ NM_000059.3(BRCA2):c.7464A>C (p.Arg2488Ser) http://identifiers.org/clinvar/52387 ^@ NM_000059.3(BRCA2):c.7681_7682insT (p.Gln2561Leufs) http://identifiers.org/clinvar/52438 ^@ NM_000059.3(BRCA2):c.793+1G>T http://identifiers.org/clinvar/52488 ^@ NM_000059.3(BRCA2):c.8056C>T (p.Leu2686Phe) http://identifiers.org/clinvar/52538 ^@ NM_000059.3(BRCA2):c.8254A>T (p.Ile2752Phe) http://identifiers.org/clinvar/52589 ^@ NM_000059.3(BRCA2):c.8438G>A (p.Gly2813Glu) http://identifiers.org/clinvar/52640 ^@ NM_000059.3(BRCA2):c.8632+2T>G http://identifiers.org/clinvar/52691 ^@ NM_000059.3(BRCA2):c.8848delAinsCT (p.Lys2950Leufs) http://identifiers.org/clinvar/52741 ^@ NM_000059.3(BRCA2):c.9074_9075delTA (p.Ile3025Thrfs) http://identifiers.org/clinvar/52793 ^@ NM_000059.3(BRCA2):c.9257-1G>C http://identifiers.org/clinvar/52844 ^@ NM_000059.3(BRCA2):c.9466C>T (p.Gln3156Ter) http://identifiers.org/clinvar/52894 ^@ NM_000059.3(BRCA2):c.9718G>A (p.Val3240Ile) http://identifiers.org/clinvar/52944 ^@ NM_000218.2(KCNQ1):c.1052T>C (p.Phe351Ser) http://identifiers.org/clinvar/52994 ^@ NM_000218.2(KCNQ1):c.1571T>G (p.Val524Gly) http://identifiers.org/clinvar/53044 ^@ NM_000218.2(KCNQ1):c.449C>G (p.Ala150Gly) http://identifiers.org/clinvar/53094 ^@ NM_000218.2(KCNQ1):c.749T>A (p.Leu250His) http://identifiers.org/clinvar/53145 ^@ NM_000218.2(KCNQ1):c.949G>A (p.Asp317Asn) http://identifiers.org/clinvar/53198 ^@ NM_000492.3(CFTR):c.112_113delTA (p.Tyr38Profs) http://identifiers.org/clinvar/53250 ^@ NM_000492.3(CFTR):c.1408_1417delGTGATTATGG (p.Val470Glufs) http://identifiers.org/clinvar/54156 ^@ NM_007294.3(BRCA1):c.1175_1178delTGTT (p.Leu392Glnfs) http://identifiers.org/clinvar/54256 ^@ NM_007294.3(BRCA1):c.144delG (p.Met48Ilefs) http://identifiers.org/clinvar/54307 ^@ NM_007294.3(BRCA1):c.160C>T (p.Gln54Ter) http://identifiers.org/clinvar/54608 ^@ NM_007294.3(BRCA1):c.2582T>G (p.Phe861Cys) http://identifiers.org/clinvar/54658 ^@ NM_007294.3(BRCA1):c.2726_2730delATCAA (p.Asn909Argfs) http://identifiers.org/clinvar/54708 ^@ NM_007294.3(BRCA1):c.2879G>A (p.Gly960Asp) http://identifiers.org/clinvar/54758 ^@ NM_007294.3(BRCA1):c.303T>G (p.Tyr101Ter) http://identifiers.org/clinvar/54808 ^@ NM_007294.3(BRCA1):c.3257T>A (p.Leu1086Ter) http://identifiers.org/clinvar/54858 ^@ NM_007294.3(BRCA1):c.3362delA (p.Asn1121Ilefs) http://identifiers.org/clinvar/54908 ^@ NM_007294.3(BRCA1):c.3527T>A (p.Val1176Asp) http://identifiers.org/clinvar/54960 ^@ NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) http://identifiers.org/clinvar/55011 ^@ NM_007294.3(BRCA1):c.3803A>G (p.Asn1268Ser) http://identifiers.org/clinvar/55061 ^@ NM_007294.3(BRCA1):c.3966delA (p.Lys1322Asnfs) http://identifiers.org/clinvar/55112 ^@ NM_007294.3(BRCA1):c.4136_4137delCT (p.Ser1379Terfs) http://identifiers.org/clinvar/55163 ^@ NM_007294.3(BRCA1):c.4294A>C (p.Ile1432Leu) http://identifiers.org/clinvar/55214 ^@ NM_007294.3(BRCA1):c.4485-2A>G http://identifiers.org/clinvar/55264 ^@ NM_007294.3(BRCA1):c.469T>C (p.Ser157Pro) http://identifiers.org/clinvar/55315 ^@ NM_007294.3(BRCA1):c.4910delC (p.Pro1637Glnfs) http://identifiers.org/clinvar/55365 ^@ NM_007294.3(BRCA1):c.5054C>T (p.Thr1685Ile) http://identifiers.org/clinvar/55415 ^@ NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys) http://identifiers.org/clinvar/55465 ^@ NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) http://identifiers.org/clinvar/55518 ^@ NM_007294.3(BRCA1):c.5312C>G (p.Pro1771Arg) http://identifiers.org/clinvar/55568 ^@ NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) http://identifiers.org/clinvar/55618 ^@ NM_007294.3(BRCA1):c.5533dupT (p.Tyr1845Leufs) http://identifiers.org/clinvar/55670 ^@ NM_007294.3(BRCA1):c.693G>A (p.Thr231=) http://identifiers.org/clinvar/55721 ^@ NM_007294.3(BRCA1):c.811G>C (p.Val271Leu) http://identifiers.org/clinvar/55772 ^@ NM_007294.3(BRCA1):c.981_982delAT (p.Cys328Terfs) http://identifiers.org/clinvar/55850 ^@ NM_000435.2(NOTCH3):c.4556T>C (p.Leu1519Pro) http://identifiers.org/clinvar/55923 ^@ NM_006494.3(ERF):c.547C>T (p.Arg183Ter) http://identifiers.org/clinvar/55980 ^@ NM_000111.2(SLC26A3):c.1559A>G (p.Tyr520Cys) http://identifiers.org/clinvar/56033 ^@ NM_000145.3(FSHR):c.662T>G (p.Val221Gly) http://identifiers.org/clinvar/56084 ^@ NM_000170.2(GLDC):c.2607C>A (p.Pro869=) http://identifiers.org/clinvar/56742 ^@ NM_030943.3(AMN):c.1006+34_1006+48del http://identifiers.org/clinvar/56811 ^@ FAM111A, 3-BP DEL, 1026TTC http://identifiers.org/clinvar/57002 ^@ GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 http://identifiers.org/clinvar/57054 ^@ GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1 http://identifiers.org/clinvar/57110 ^@ GRCh38/hg38 7q21.11(chr7:84084970-84963541)x3 http://identifiers.org/clinvar/57162 ^@ GRCh38/hg38 7q11.23(chr7:74177663-74718954)x1 http://identifiers.org/clinvar/57213 ^@ GRCh38/hg38 15q11.2(chr15:25337273-25381835)x1 http://identifiers.org/clinvar/57266 ^@ GRCh38/hg38 10q26.3(chr10:133390058-133564028)x1 http://identifiers.org/clinvar/57319 ^@ GRCh38/hg38 5q13.2(chr5:70436365-71014028)x1 http://identifiers.org/clinvar/57373 ^@ GRCh38/hg38 16q23.1(chr16:76487528-76735501)x1 http://identifiers.org/clinvar/101190 ^@ NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp) http://identifiers.org/clinvar/101240 ^@ NM_000090.3(COL3A1):c.1662+2dupT (p.Gly537_Pro554del) http://identifiers.org/clinvar/101390 ^@ NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) http://identifiers.org/clinvar/101440 ^@ NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) http://identifiers.org/clinvar/101490 ^@ NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn) http://identifiers.org/clinvar/102447 ^@ NM_001040147.2(SERPINB7):c.218_219delAGinsTAAACTTTACCT (p.Gln73Leufs) http://identifiers.org/clinvar/160848 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 http://identifiers.org/clinvar/161003 ^@ GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 http://identifiers.org/clinvar/161053 ^@ GRCh38/hg38 Xq28(chrX:156001591-156022206)x1 http://identifiers.org/clinvar/161103 ^@ NM_030777.3(SLC2A10):c.1411+1G>A (p.Val430_I470del) http://identifiers.org/clinvar/161153 ^@ NM_152296.4(ATP1A3):c.2974G>T (p.Asp992Tyr) http://identifiers.org/clinvar/161235 ^@ NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) http://identifiers.org/clinvar/161285 ^@ NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) http://identifiers.org/clinvar/162202 ^@ PDHX, ARG446TER http://identifiers.org/clinvar/162404 ^@ NM_020461.3(TUBGCP6):c.2546A>G (p.Glu849Gly) http://identifiers.org/clinvar/162485 ^@ NM_004208.3(AIFM1):c.1078G>C (p.Gly360Arg) http://identifiers.org/clinvar/162554 ^@ NM_004369.3(COL6A3):c.2305G>A (p.Ala769Thr) http://identifiers.org/clinvar/162663 ^@ NM_004130.3(GYG1):c.304G>C (p.Asp102His) http://identifiers.org/clinvar/178104 ^@ NM_002524.4(NRAS):c.225C>T (p.Gly75=) http://identifiers.org/clinvar/162811 ^@ NM_001232.3(CASQ2):c.923C>A (p.Pro308Gln) http://identifiers.org/clinvar/166504 ^@ NM_206933.2(USH2A):c.4510dupA (p.Arg1504Lysfs) http://identifiers.org/clinvar/178004 ^@ NM_001103.3(ACTN2):c.1794G>A (p.Pro598=) http://identifiers.org/clinvar/162745 ^@ NM_001103.3(ACTN2):c.2555G>A (p.Arg852Gln) http://identifiers.org/clinvar/179162 ^@ NM_133378.4(TTN):c.90430G>T (p.Glu30144Ter) http://identifiers.org/clinvar/179212 ^@ NM_206933.2(USH2A):c.11693_11695delTCA (p.Ile3898del) http://identifiers.org/clinvar/179112 ^@ NM_005633.3(SOS1):c.3706C>A (p.Pro1236Thr) http://identifiers.org/clinvar/167003 ^@ NM_001369.2(DNAH5):c.9721-12A>T http://identifiers.org/clinvar/163073 ^@ NM_005219.4(DIAPH1):c.1523A>G (p.Asp508Gly) http://identifiers.org/clinvar/177953 ^@ NM_003242.5(TGFBR2):c.1570G>T (p.Asp524Tyr) http://identifiers.org/clinvar/166589 ^@ NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) http://identifiers.org/clinvar/179012 ^@ NM_004415.3(DSP):c.797T>C (p.Met266Thr) http://identifiers.org/clinvar/178962 ^@ NM_004415.3(DSP):c.8374T>A (p.Ser2792Thr) http://identifiers.org/clinvar/163123 ^@ NM_001277115.1(DNAH11):c.11202+7C>A http://identifiers.org/clinvar/163274 ^@ NM_004415.3(DSP):c.4723G>A (p.Glu1575Lys) http://identifiers.org/clinvar/198825 ^@ NM_005477.2(HCN4):c.3131G>A (p.Arg1044Gln) http://identifiers.org/clinvar/198881 ^@ NM_016513.4(ICK):c.555G>A (p.Ala185=) http://identifiers.org/clinvar/198934 ^@ NM_206933.2(USH2A):c.1412A>G (p.Tyr471Cys) http://identifiers.org/clinvar/198985 ^@ NM_000036.2(AMPD1):c.1221G>A (p.Lys407=) http://identifiers.org/clinvar/199036 ^@ NM_000719.6(CACNA1C):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/199089 ^@ NM_004369.3(COL6A3):c.4103C>T (p.Thr1368Met) http://identifiers.org/clinvar/199141 ^@ NM_001134831.1(AHI1):c.1157G>A (p.Arg386Gln) http://identifiers.org/clinvar/199192 ^@ NM_176824.2(BBS7):c.865G>A (p.Val289Ile) http://identifiers.org/clinvar/199247 ^@ NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) http://identifiers.org/clinvar/200941 ^@ NM_170707.3(LMNA):c.768G>A (p.Val256=) http://identifiers.org/clinvar/199696 ^@ NM_000090.3(COL3A1):c.1659T>A (p.Pro553=) http://identifiers.org/clinvar/199750 ^@ NM_000090.3(COL3A1):c.4180_4189delGGGTCAAATG (p.Gly1394Lysfs) http://identifiers.org/clinvar/201122 ^@ NM_053025.3(MYLK):c.1640G>A (p.Trp547Ter) http://identifiers.org/clinvar/199916 ^@ NM_004415.3(DSP):c.928dupG (p.Glu310Glyfs) http://identifiers.org/clinvar/199857 ^@ NM_004415.3(DSP):c.1012C>T (p.Leu338Phe) http://identifiers.org/clinvar/200475 ^@ NM_000238.3(KCNH2):c.2665T>G (p.Leu889Val) http://identifiers.org/clinvar/200728 ^@ NM_000238.3(KCNH2):c.1600C>A (p.Arg534Ser) http://identifiers.org/clinvar/200308 ^@ NM_000238.3(KCNH2):c.877G>T (p.Ala293Ser) http://identifiers.org/clinvar/200618 ^@ NM_000238.3(KCNH2):c.853_859delGCCGACG (p.Ala285Thrfs) http://identifiers.org/clinvar/200880 ^@ NM_000218.2(KCNQ1):c.184G>A (p.Ala62Thr) http://identifiers.org/clinvar/200826 ^@ NM_000218.2(KCNQ1):c.946G>T (p.Gly316Trp) http://identifiers.org/clinvar/201017 ^@ NM_130799.2(MEN1):c.55delG (p.Val19Trpfs) http://identifiers.org/clinvar/200198 ^@ NM_000138.4(FBN1):c.7577A>G (p.Asn2526Ser) http://identifiers.org/clinvar/200084 ^@ NM_000138.4(FBN1):c.6448C>T (p.Arg2150Cys) http://identifiers.org/clinvar/199974 ^@ NM_000138.4(FBN1):c.1664G>T (p.Cys555Phe) http://identifiers.org/clinvar/200144 ^@ NM_000138.4(FBN1):c.353A>G (p.His118Arg) http://identifiers.org/clinvar/200029 ^@ NM_000138.4(FBN1):c.139G>A (p.Gly47Ser) http://identifiers.org/clinvar/201069 ^@ NM_002474.2(MYH11):c.3932C>T (p.Ala1311Val) http://identifiers.org/clinvar/199805 ^@ NM_001943.4(DSG2):c.1072G>A (p.Ala358Thr) http://identifiers.org/clinvar/202130 ^@ NM_024334.2(TMEM43):c.410G>C (p.Gly137Ala) http://identifiers.org/clinvar/201956 ^@ NM_014476.5(PDLIM3):c.11C>T (p.Thr4Met) http://identifiers.org/clinvar/202072 ^@ NM_001134363.2(RBM20):c.2986G>T (p.Asp996Tyr) http://identifiers.org/clinvar/201903 ^@ NM_006393.2(NEBL):c.1639C>T (p.Arg547Ter) http://identifiers.org/clinvar/201848 ^@ NM_007078.2(LDB3):c.1256C>A (p.Ser419Tyr) http://identifiers.org/clinvar/202014 ^@ NM_004572.3(PKP2):c.674_675delCT (p.Ser225Cysfs) http://identifiers.org/clinvar/201794 ^@ NM_020433.4(JPH2):c.385T>G (p.Tyr129Asp) http://identifiers.org/clinvar/202186 ^@ NM_183075.2(CYP2U1):c.1209_1210delAG (p.Glu404Serfs) http://identifiers.org/clinvar/202236 ^@ NC_000020.10:g.(?_71023)_(2129746_?)del http://identifiers.org/clinvar/203080 ^@ NM_001256850.1(TTN):c.99491G>A (p.Arg33164Gln) http://identifiers.org/clinvar/203030 ^@ NM_001256850.1(TTN):c.92611T>A (p.Ser30871Thr) http://identifiers.org/clinvar/202528 ^@ NM_001256850.1(TTN):c.91774C>T (p.Arg30592Ter) http://identifiers.org/clinvar/202980 ^@ NM_001256850.1(TTN):c.86462G>A (p.Arg28821Gln) http://identifiers.org/clinvar/202930 ^@ NM_001256850.1(TTN):c.80527G>A (p.Asp26843Asn) http://identifiers.org/clinvar/202415 ^@ NM_001256850.1(TTN):c.77317C>T (p.Arg25773Ter) http://identifiers.org/clinvar/202880 ^@ NM_001256850.1(TTN):c.72434C>T (p.Ala24145Val) http://identifiers.org/clinvar/202469 ^@ NM_001256850.1(TTN):c.71474_71475delTA (p.Ile23825Argfs) http://identifiers.org/clinvar/202830 ^@ NM_001256850.1(TTN):c.66041T>C (p.Ile22014Thr) http://identifiers.org/clinvar/231258 ^@ NM_000038.5(APC):c.5042C>T (p.Ser1681Leu) http://identifiers.org/clinvar/230908 ^@ NM_000038.5(APC):c.5224C>T (p.Arg1742Cys) http://identifiers.org/clinvar/231358 ^@ NM_005732.3(RAD50):c.1031C>T (p.Ser344Leu) http://identifiers.org/clinvar/233851 ^@ NM_005732.3(RAD50):c.3229C>A (p.Arg1077=) http://identifiers.org/clinvar/234151 ^@ NM_004168.3(SDHA):c.1199T>A (p.Ile400Asn) http://identifiers.org/clinvar/231108 ^@ NM_000535.6(PMS2):c.851delC (p.Ser284Terfs) http://identifiers.org/clinvar/233548 ^@ NM_002485.4(NBN):c.1397+3C>G http://identifiers.org/clinvar/231708 ^@ NM_002485.4(NBN):c.361G>C (p.Asp121His) http://identifiers.org/clinvar/234051 ^@ NM_000077.4(CDKN2A):c.300C>T (p.Ala100=) http://identifiers.org/clinvar/231408 ^@ NM_000051.3(ATM):c.861T>C (p.Ile287=) http://identifiers.org/clinvar/231158 ^@ NM_000051.3(ATM):c.2322T>C (p.Gly774=) http://identifiers.org/clinvar/233648 ^@ NM_000051.3(ATM):c.4576C>T (p.Pro1526Ser) http://identifiers.org/clinvar/230808 ^@ NM_000051.3(ATM):c.8851-3T>G http://identifiers.org/clinvar/230608 ^@ NM_005591.3(MRE11):c.1225+1G>A http://identifiers.org/clinvar/229819 ^@ NM_005591.3(MRE11):c.52_54delGCA (p.Ala18del) http://identifiers.org/clinvar/231608 ^@ NM_000059.3(BRCA2):c.668delA (p.His223Leufs) http://identifiers.org/clinvar/231308 ^@ NM_000059.3(BRCA2):c.1749G>A (p.Leu583=) http://identifiers.org/clinvar/230858 ^@ NM_000059.3(BRCA2):c.3681G>C (p.Leu1227=) http://identifiers.org/clinvar/231508 ^@ NM_000059.3(BRCA2):c.3936T>C (p.Asn1312=) http://identifiers.org/clinvar/233598 ^@ NM_000059.3(BRCA2):c.4383_4384delCT (p.Leu1462Lysfs) http://identifiers.org/clinvar/233901 ^@ NM_000059.3(BRCA2):c.5725G>A (p.Asp1909Asn) http://identifiers.org/clinvar/233498 ^@ NM_000059.3(BRCA2):c.7495C>G (p.Gln2499Glu) http://identifiers.org/clinvar/230708 ^@ NM_000059.3(BRCA2):c.9497T>C (p.Val3166Ala) http://identifiers.org/clinvar/230458 ^@ NM_000548.4(TSC2):c.2038C>T (p.Arg680Trp) http://identifiers.org/clinvar/231558 ^@ NM_024675.3(PALB2):c.2667T>A (p.Thr889=) http://identifiers.org/clinvar/230958 ^@ NM_024675.3(PALB2):c.947C>T (p.Pro316Leu) http://identifiers.org/clinvar/230558 ^@ NM_024675.3(PALB2):c.459G>A (p.Arg153=) http://identifiers.org/clinvar/231058 ^@ NM_004360.4(CDH1):c.220C>G (p.Arg74Gly) http://identifiers.org/clinvar/231758 ^@ NM_001042492.2(NF1):c.-2A>T http://identifiers.org/clinvar/230658 ^@ NM_001042492.2(NF1):c.261G>A (p.Leu87=) http://identifiers.org/clinvar/234101 ^@ NM_001042492.2(NF1):c.1554C>T (p.Thr518=) http://identifiers.org/clinvar/233398 ^@ NM_001042492.2(NF1):c.2851-3delT http://identifiers.org/clinvar/230408 ^@ NM_001042492.2(NF1):c.4071C>T (p.Phe1357=) http://identifiers.org/clinvar/229719 ^@ NM_002878.3(RAD51D):c.619T>C (p.Ser207Pro) http://identifiers.org/clinvar/233348 ^@ NM_007294.3(BRCA1):c.5407-4C>G http://identifiers.org/clinvar/231208 ^@ NM_007294.3(BRCA1):c.3312G>A (p.Lys1104=) http://identifiers.org/clinvar/234201 ^@ NM_007294.3(BRCA1):c.2156A>C (p.Lys719Thr) http://identifiers.org/clinvar/231658 ^@ NM_032043.2(BRIP1):c.1205C>T (p.Ala402Val) http://identifiers.org/clinvar/233800 ^@ NM_032043.2(BRIP1):c.725A>G (p.Lys242Arg) http://identifiers.org/clinvar/231808 ^@ NM_032043.2(BRIP1):c.703_705delAAG (p.Lys235del) http://identifiers.org/clinvar/231008 ^@ NM_000546.5(TP53):c.949C>A (p.Gln317Lys) http://identifiers.org/clinvar/230758 ^@ NM_000546.5(TP53):c.480G>A (p.Met160Ile) http://identifiers.org/clinvar/233248 ^@ NM_000546.5(TP53):c.14A>G (p.Gln5Arg) http://identifiers.org/clinvar/233198 ^@ NM_005359.5(SMAD4):c.921G>A (p.Glu307=) http://identifiers.org/clinvar/233698 ^@ NM_000455.4(STK11):c.882_884delGGC (p.Ala295del) http://identifiers.org/clinvar/235358 ^@ NM_020754.3(ARHGAP31):c.2312T>C (p.Val771Ala) http://identifiers.org/clinvar/235413 ^@ NC_012920.1:m.4768T>C http://identifiers.org/clinvar/235468 ^@ NM_130445.3(COL18A1):c.241C>T (p.Arg81Trp) http://identifiers.org/clinvar/235522 ^@ NC_012920.1:m.6734G>A http://identifiers.org/clinvar/235573 ^@ NM_000508.4(FGA):c.923G>A (p.Arg308Gln) http://identifiers.org/clinvar/235623 ^@ NC_012920.1:m.15746A>G http://identifiers.org/clinvar/235676 ^@ NM_004550.4(NDUFS2):c.736C>A (p.Gln246Lys) http://identifiers.org/clinvar/235738 ^@ NM_003482.3(KMT2D):c.1258+3G>A http://identifiers.org/clinvar/235864 ^@ NM_004924.5(ACTN4):c.584G>A (p.Gly195Asp) http://identifiers.org/clinvar/236147 ^@ NM_000350.2(ABCA4):c.6326T>C (p.Leu2109Pro) http://identifiers.org/clinvar/236097 ^@ NM_000350.2(ABCA4):c.2919-10T>C http://identifiers.org/clinvar/236201 ^@ NM_170707.3(LMNA):c.513+45T>G http://identifiers.org/clinvar/236285 ^@ NM_198578.3(LRRK2):c.691T>C (p.Ser231Pro) http://identifiers.org/clinvar/236336 ^@ NC_000016.8:g.76605487_77103726dup498240 http://identifiers.org/clinvar/236386 ^@ NC_000016.9:g.77967322_78604831dup637510 http://identifiers.org/clinvar/236537 ^@ NM_206933.2(USH2A):c.11713C>T (p.Arg3905Cys) http://identifiers.org/clinvar/236487 ^@ NM_000260.3(MYO7A):c.1976C>A (p.Ser659Ter) http://identifiers.org/clinvar/236437 ^@ NM_012193.3(FZD4):c.961G>A (p.Val321Ile) http://identifiers.org/clinvar/239437 ^@ NM_003000.2(SDHB):c.659T>C (p.Ile220Thr) http://identifiers.org/clinvar/238333 ^@ NM_001128425.1(MUTYH):c.1132G>A (p.Glu378Lys) http://identifiers.org/clinvar/238833 ^@ NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp) http://identifiers.org/clinvar/238783 ^@ NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) http://identifiers.org/clinvar/238733 ^@ NM_001267550.2(TTN):c.2836G>A (p.Val946Ile) http://identifiers.org/clinvar/239134 ^@ NM_002354.2(EPCAM):c.583C>G (p.Leu195Val) http://identifiers.org/clinvar/237393 ^@ NM_000251.2(MSH2):c.2777T>A (p.Ile926Asn) http://identifiers.org/clinvar/237343 ^@ NM_000249.3(MLH1):c.621A>G (p.Leu207=) http://identifiers.org/clinvar/239537 ^@ NM_003280.2(TNNC1):c.456G>A (p.Glu152=) http://identifiers.org/clinvar/238583 ^@ NM_001148.4(ANK2):c.5651C>T (p.Ser1884Leu) http://identifiers.org/clinvar/236587 ^@ NM_000038.5(APC):c.3270A>G (p.Gln1090=) http://identifiers.org/clinvar/236637 ^@ NM_000038.5(APC):c.6885A>G (p.Ser2295=) http://identifiers.org/clinvar/239084 ^@ NM_001999.3(FBN2):c.404G>A (p.Gly135Glu) http://identifiers.org/clinvar/238983 ^@ NM_001369.2(DNAH5):c.6508dupA (p.Arg2170Lysfs) http://identifiers.org/clinvar/238633 ^@ NM_001206927.1(DNAH8):c.1192C>T (p.Arg398Cys) http://identifiers.org/clinvar/237293 ^@ NM_000238.3(KCNH2):c.1641G>A (p.Ala547=) http://identifiers.org/clinvar/238933 ^@ NM_001277115.1(DNAH11):c.8266T>C (p.Cys2756Arg) http://identifiers.org/clinvar/262786 ^@ NM_153717.2(EVC):c.969T>C (p.Asn323=) http://identifiers.org/clinvar/261586 ^@ NM_022455.4(NSD1):c.4192+16G>T http://identifiers.org/clinvar/262186 ^@ NM_033071.3(SYNE1):c.23248-6A>C http://identifiers.org/clinvar/256297 ^@ NM_000500.7(CYP21A2):c.705T>C (p.Asp235=) http://identifiers.org/clinvar/262386 ^@ NM_138694.3(PKHD1):c.11786-30C>T http://identifiers.org/clinvar/258986 ^@ NM_003227.3(TFR2):c.1449C>T (p.Ser483=) http://identifiers.org/clinvar/258536 ^@ NM_002047.3(GARS):c.2095-6C>T http://identifiers.org/clinvar/254958 ^@ NM_000089.3(COL1A2):c.937-3C>T http://identifiers.org/clinvar/256847 ^@ NM_001001557.3(GDF6):c.255G>T (p.Pro85=) http://identifiers.org/clinvar/256647 ^@ NM_000550.2(TYRP1):c.729T>C (p.Ser243=) http://identifiers.org/clinvar/255947 ^@ NM_000368.4(TSC1):c.1333+14G>A http://identifiers.org/clinvar/262436 ^@ NM_139025.4(ADAMTS13):c.2580C>T (p.Val860=) http://identifiers.org/clinvar/255058 ^@ NM_000093.4(COL5A1):c.1936-21G>A http://identifiers.org/clinvar/262536 ^@ NM_144966.5(FREM1):c.3089-4G>T http://identifiers.org/clinvar/259036 ^@ NM_003289.3(TPM2):c.300C>T (p.Asp100=) http://identifiers.org/clinvar/261986 ^@ NM_032024.4(C10orf11):c.109C>T (p.Leu37=) http://identifiers.org/clinvar/262736 ^@ NM_153676.3(USH1C):c.496+33A>G http://identifiers.org/clinvar/256347 ^@ NM_000518.4(HBB):c.316-238C>T http://identifiers.org/clinvar/257497 ^@ NM_001122955.3(BSCL2):c.486+11G>T http://identifiers.org/clinvar/259136 ^@ NM_003737.3(DCHS1):c.1902C>T (p.His634=) http://identifiers.org/clinvar/258636 ^@ NM_002335.3(LRP5):c.2318+6T>C http://identifiers.org/clinvar/256597 ^@ NM_000545.6(HNF1A):c.1548C>T (p.Gly516=) http://identifiers.org/clinvar/261786 ^@ NM_024809.4(TCTN2):c.1033+13T>A http://identifiers.org/clinvar/255747 ^@ NM_000289.5(PFKM):c.1127+43G>C http://identifiers.org/clinvar/254708 ^@ NM_000020.2(ACVRL1):c.1246+9C>T http://identifiers.org/clinvar/258586 ^@ NM_002206.2(ITGA7):c.2958+15C>T http://identifiers.org/clinvar/256697 ^@ NM_000552.4(VWF):c.7288-19C>T http://identifiers.org/clinvar/261836 ^@ NM_025114.3(CEP290):c.2483+7G>T http://identifiers.org/clinvar/258836 ^@ NM_002863.4(PYGL):c.2016C>T (p.Thr672=) http://identifiers.org/clinvar/256097 ^@ NM_000428.2(LTBP2):c.2406T>C (p.Thr802=) http://identifiers.org/clinvar/261486 ^@ NM_022067.3(VIPAS39):c.1179+20G>A http://identifiers.org/clinvar/254858 ^@ NM_000070.2(CAPN3):c.1194-45C>T http://identifiers.org/clinvar/335133 ^@ NM_004369.3(COL6A3):c.3009A>T (p.Gly1003=) http://identifiers.org/clinvar/335833 ^@ NM_014946.3(SPAST):c.865C>T (p.His289Tyr) http://identifiers.org/clinvar/335183 ^@ NM_004544.3(NDUFA10):c.*1189C>T http://identifiers.org/clinvar/335233 ^@ NM_004321.7(KIF1A):c.*1823C>T http://identifiers.org/clinvar/335333 ^@ NM_152783.4(D2HGDH):c.*266G>A http://identifiers.org/clinvar/335433 ^@ NM_194248.2(OTOF):c.5193-9T>C http://identifiers.org/clinvar/336183 ^@ NM_000341.3(SLC3A1):c.24A>C (p.Arg8Ser) http://identifiers.org/clinvar/335483 ^@ NM_000221.2(KHK):c.159C>T (p.Leu53=) http://identifiers.org/clinvar/335533 ^@ NM_015636.3(EIF2B4):c.1380T>C (p.Asp460=) http://identifiers.org/clinvar/336490 ^@ NM_000145.3(FSHR):c.446+10T>C http://identifiers.org/clinvar/333742 ^@ NM_012092.3(ICOS):c.*77C>T http://identifiers.org/clinvar/335883 ^@ NM_014946.3(SPAST):c.*2504A>G http://identifiers.org/clinvar/335983 ^@ NM_005633.3(SOS1):c.*2218T>A http://identifiers.org/clinvar/336790 ^@ NM_002056.3(GFPT1):c.*5401dupT http://identifiers.org/clinvar/336133 ^@ NM_133259.3(LRPPRC):c.*647G>C http://identifiers.org/clinvar/336940 ^@ NM_032601.3(MCEE):c.136G>A (p.Gly46Ser) http://identifiers.org/clinvar/336233 ^@ NM_001430.4(EPAS1):c.-4G>A http://identifiers.org/clinvar/336590 ^@ NM_001135659.2(NRXN1):c.-1381G>A http://identifiers.org/clinvar/337529 ^@ NM_014014.4(SNRNP200):c.5943T>C (p.Ser1981=) http://identifiers.org/clinvar/342409 ^@ NM_000551.3(VHL):c.*349G>T http://identifiers.org/clinvar/334733 ^@ NM_000092.4(COL4A4):c.931-14dupT http://identifiers.org/clinvar/334783 ^@ NM_000091.4(COL4A3):c.4253-14T>C http://identifiers.org/clinvar/342959 ^@ NM_000373.3(UMPS):c.*1342C>T http://identifiers.org/clinvar/343009 ^@ NM_000373.3(UMPS):c.*3495T>C http://identifiers.org/clinvar/343109 ^@ NM_032638.4(GATA2):c.*1544A>G http://identifiers.org/clinvar/335283 ^@ NM_004321.7(KIF1A):c.184-10C>T http://identifiers.org/clinvar/343159 ^@ NM_004637.5(RAB7A):c.495G>A (p.Ala165=) http://identifiers.org/clinvar/343209 ^@ NM_014049.4(ACAD9):c.*31G>A http://identifiers.org/clinvar/335083 ^@ NM_000463.2(UGT1A1):c.*201G>A http://identifiers.org/clinvar/342609 ^@ NM_000796.5(DRD3):c.-281A>G http://identifiers.org/clinvar/335683 ^@ NM_004304.4(ALK):c.*63A>G http://identifiers.org/clinvar/335383 ^@ NM_000182.4(HADHA):c.858G>A (p.Val286=) http://identifiers.org/clinvar/335733 ^@ NM_000379.3(XDH):c.*1555G>T http://identifiers.org/clinvar/335783 ^@ NM_000379.3(XDH):c.1749G>A (p.Ala583=) http://identifiers.org/clinvar/335933 ^@ NM_000104.3(CYP1B1):c.*1027delG http://identifiers.org/clinvar/335583 ^@ NM_001029883.2(C2orf71):c.*2525G>A http://identifiers.org/clinvar/335633 ^@ NM_001029883.2(C2orf71):c.*227T>C http://identifiers.org/clinvar/357525 ^@ NM_018100.3(EFHC1):c.*2913G>C http://identifiers.org/clinvar/350838 ^@ NM_014402.4(UQCRQ):c.-18G>C http://identifiers.org/clinvar/350888 ^@ NM_000358.2(TGFBI):c.1411-3C>T http://identifiers.org/clinvar/351038 ^@ NM_001369.2(DNAH5):c.11463G>A (p.Thr3821=) http://identifiers.org/clinvar/351338 ^@ NM_001018077.1(NR3C1):c.*1509C>A http://identifiers.org/clinvar/351438 ^@ NM_054027.4(ANKH):c.*3336_*3339delCTTT http://identifiers.org/clinvar/351538 ^@ NM_006846.3(SPINK5):c.2864T>C (p.Val955Ala) http://identifiers.org/clinvar/351388 ^@ NM_054027.4(ANKH):c.*6205G>A http://identifiers.org/clinvar/351838 ^@ NM_024577.3(SH3TC2):c.*3202T>C http://identifiers.org/clinvar/351938 ^@ NM_000440.2(PDE6A):c.*2771G>C http://identifiers.org/clinvar/359664 ^@ NM_001277115.1(DNAH11):c.9013T>C (p.Cys3005Arg) http://identifiers.org/clinvar/359914 ^@ NM_018947.5(CYCS):c.*2139A>T http://identifiers.org/clinvar/356875 ^@ NM_203290.3(POLR1C):c.489C>T (p.Tyr163=) http://identifiers.org/clinvar/357075 ^@ NM_020745.3(AARS2):c.967G>A (p.Val323Met) http://identifiers.org/clinvar/360903 ^@ NM_194456.1(KRIT1):c.-591C>T http://identifiers.org/clinvar/357475 ^@ NM_018100.3(EFHC1):c.-195A>G http://identifiers.org/clinvar/353375 ^@ NM_133433.3(NIPBL):c.2501G>A (p.Arg834Gln) http://identifiers.org/clinvar/353175 ^@ NM_003900.4(SQSTM1):c.*288C>T http://identifiers.org/clinvar/361003 ^@ NM_014251.2(SLC25A13):c.*517A>G http://identifiers.org/clinvar/353425 ^@ NM_023073.3(C5orf42):c.8352T>C (p.Thr2784=) http://identifiers.org/clinvar/353275 ^@ NM_002185.3(IL7R):c.*539C>T http://identifiers.org/clinvar/353325 ^@ NM_004172.4(SLC1A3):c.1342C>T (p.Leu448=) http://identifiers.org/clinvar/361563 ^@ NM_014112.4(TRPS1):c.*2740delT http://identifiers.org/clinvar/353725 ^@ NM_004465.1(FGF10):c.261G>A (p.Lys87=) http://identifiers.org/clinvar/353775 ^@ NM_002203.3(ITGA2):c.2826-12A>T http://identifiers.org/clinvar/353475 ^@ NM_000514.3(GDNF):c.*2651C>G http://identifiers.org/clinvar/361763 ^@ NM_004519.3(KCNQ3):c.*7075A>G http://identifiers.org/clinvar/353875 ^@ NM_176806.3(MOCS2):c.*531A>C http://identifiers.org/clinvar/299755 ^@ NM_014915.2(ANKRD26):c.874+8G>T http://identifiers.org/clinvar/299805 ^@ NM_032844.4(MASTL):c.*203T>A http://identifiers.org/clinvar/363802 ^@ NM_000318.2(PEX2):c.*913C>T http://identifiers.org/clinvar/363902 ^@ NM_002485.4(NBN):c.*937T>C http://identifiers.org/clinvar/299905 ^@ NM_020975.4(RET):c.*330A>G http://identifiers.org/clinvar/363852 ^@ NM_019098.4(CNGB3):c.*1093C>T http://identifiers.org/clinvar/300005 ^@ NM_000124.3(ERCC6):c.*1964_*1966delATT http://identifiers.org/clinvar/300105 ^@ NM_000242.2(MBL2):c.*2702G>A http://identifiers.org/clinvar/364302 ^@ NM_000035.3(ALDOB):c.*268T>C http://identifiers.org/clinvar/364352 ^@ NM_005502.3(ABCA1):c.*1373dupT http://identifiers.org/clinvar/300405 ^@ NM_022124.5(CDH23):c.1062C>T (p.Ser354=) http://identifiers.org/clinvar/364402 ^@ NM_005502.3(ABCA1):c.4281G>A (p.Thr1427=) http://identifiers.org/clinvar/300655 ^@ NM_004273.4(CHST3):c.*3785G>A http://identifiers.org/clinvar/364652 ^@ NM_000031.5(ALAD):c.264C>T (p.Asp88=) http://identifiers.org/clinvar/364702 ^@ NM_015404.3(WHRN):c.-269C>A http://identifiers.org/clinvar/364902 ^@ NM_002316.3(LMX1B):c.*355G>T http://identifiers.org/clinvar/365002 ^@ NM_138361.5(LRSAM1):c.-575C>T http://identifiers.org/clinvar/308948 ^@ NM_000289.5(PFKM):c.360C>T (p.Gly120=) http://identifiers.org/clinvar/309148 ^@ NM_000217.2(KCNA1):c.1464G>A (p.Lys488=) http://identifiers.org/clinvar/365841 ^@ NM_052813.4(CARD9):c.976G>A (p.Glu326Lys) http://identifiers.org/clinvar/309248 ^@ NM_000486.5(AQP2):c.*976A>G http://identifiers.org/clinvar/309598 ^@ NM_000423.2(KRT2):c.1650C>T (p.Gly550=) http://identifiers.org/clinvar/309698 ^@ NM_002272.3(KRT4):c.457G>A (p.Asp153Asn) http://identifiers.org/clinvar/366242 ^@ NM_002451.3(MTAP):c.315C>T (p.Gly105=) http://identifiers.org/clinvar/309748 ^@ NM_001173467.2(SP7):c.*1399G>A http://identifiers.org/clinvar/366342 ^@ NM_003070.4(SMARCA2):c.*716A>G http://identifiers.org/clinvar/366392 ^@ NM_000459.4(TEK):c.234G>A (p.Val78=) http://identifiers.org/clinvar/302294 ^@ NM_000051.3(ATM):c.*3093C>T http://identifiers.org/clinvar/309948 ^@ NM_004984.2(KIF5A):c.2839A>G (p.Thr947Ala) http://identifiers.org/clinvar/366442 ^@ NM_000459.4(TEK):c.2604C>T (p.Asp868=) http://identifiers.org/clinvar/366492 ^@ NM_001256054.2(C9orf72):c.*837G>A http://identifiers.org/clinvar/302544 ^@ NM_001558.3(IL10RA):c.337G>A (p.Val113Ile) http://identifiers.org/clinvar/366542 ^@ NM_203447.3(DOCK8):c.528+13A>G http://identifiers.org/clinvar/366592 ^@ NM_175073.2(APTX):c.484-12_484-11insG http://identifiers.org/clinvar/302594 ^@ NM_174934.3(SCN4B):c.*2623A>G http://identifiers.org/clinvar/302694 ^@ NM_000073.2(CD3G):c.*500G>A http://identifiers.org/clinvar/302794 ^@ NM_005188.3(CBL):c.*559_*560insCAA http://identifiers.org/clinvar/302944 ^@ NG_012235.1:g.10324G>C http://identifiers.org/clinvar/302994 ^@ NM_005422.2(TECTA):c.851G>A (p.Arg284His) http://identifiers.org/clinvar/303044 ^@ NM_005422.2(TECTA):c.6136G>A (p.Asp2046Asn) http://identifiers.org/clinvar/340419 ^@ NM_006657.2(FTCD):c.1337G>A (p.Arg446Gln) http://identifiers.org/clinvar/312592 ^@ NM_005708.4(GPC6):c.*2407A>T http://identifiers.org/clinvar/340469 ^@ NM_006031.5(PCNT):c.1185T>C (p.Phe395=) http://identifiers.org/clinvar/312642 ^@ NM_001376.4(DYNC1H1):c.8784A>G (p.Gln2928=) http://identifiers.org/clinvar/314431 ^@ NM_017791.2(FLVCR2):c.*1098C>A http://identifiers.org/clinvar/312742 ^@ NM_000270.3(PNP):c.*483A>C http://identifiers.org/clinvar/312842 ^@ NM_002471.3(MYH6):c.5500C>T (p.Arg1834Cys) http://identifiers.org/clinvar/314581 ^@ NM_004863.3(SPTLC2):c.*4914C>T http://identifiers.org/clinvar/322216 ^@ NM_000382.2(ALDH3A2):c.1021C>G (p.Pro341Ala) http://identifiers.org/clinvar/340770 ^@ NM_017929.5(PEX26):c.*812C>T http://identifiers.org/clinvar/322266 ^@ NM_000430.3(PAFAH1B1):c.*279A>G http://identifiers.org/clinvar/314681 ^@ NM_004863.3(SPTLC2):c.-30G>T http://identifiers.org/clinvar/314731 ^@ NM_000153.3(GALC):c.*1275G>A http://identifiers.org/clinvar/340920 ^@ NM_003073.4(SMARCB1):c.*113C>T http://identifiers.org/clinvar/341020 ^@ NM_022081.5(HPS4):c.608C>T (p.Thr203Ile) http://identifiers.org/clinvar/322566 ^@ NM_000267.3(NF1):c.61-4delT http://identifiers.org/clinvar/341170 ^@ NM_000268.3(NF2):c.*3443G>T http://identifiers.org/clinvar/341220 ^@ NM_000355.3(TCN2):c.*209G>C http://identifiers.org/clinvar/341320 ^@ NM_012179.3(FBXO7):c.*47A>T http://identifiers.org/clinvar/341520 ^@ NM_002473.5(MYH9):c.2391-7C>T http://identifiers.org/clinvar/322966 ^@ NM_001004334.3(GPR179):c.6824T>C (p.Leu2275Pro) http://identifiers.org/clinvar/313581 ^@ NM_182914.2(SYNE2):c.12931G>A (p.Glu4311Lys) http://identifiers.org/clinvar/313731 ^@ NM_000347.5(SPTB):c.4176C>T (p.Asn1392=) http://identifiers.org/clinvar/313881 ^@ NM_015346.3(ZFYVE26):c.6339A>G (p.Leu2113=) http://identifiers.org/clinvar/315770 ^@ NM_152594.2(SPRED1):c.*3591C>T http://identifiers.org/clinvar/313981 ^@ NM_000021.3(PSEN1):c.*2325A>G http://identifiers.org/clinvar/314181 ^@ NM_005589.3(ALDH6A1):c.349-13G>A http://identifiers.org/clinvar/316270 ^@ NM_000338.2(SLC12A1):c.2435T>C (p.Ile812Thr) http://identifiers.org/clinvar/314381 ^@ NM_001040108.1(MLH3):c.2838C>A (p.Ser946=) http://identifiers.org/clinvar/316470 ^@ NM_031226.2(CYP19A1):c.*9G>T http://identifiers.org/clinvar/314481 ^@ NM_004452.3(ESRRB):c.114G>A (p.Ser38=) http://identifiers.org/clinvar/314631 ^@ NM_004863.3(SPTLC2):c.*2177A>C http://identifiers.org/clinvar/316670 ^@ NM_000236.2(LIPC):c.1052-4_1052-3dupCT http://identifiers.org/clinvar/368681 ^@ NM_153252.4(BRWD3):c.*6640T>A http://identifiers.org/clinvar/324464 ^@ NM_000334.4(SCN4A):c.*2169C>G http://identifiers.org/clinvar/316720 ^@ NM_016630.6(SPG21):c.538G>A (p.Ala180Thr) http://identifiers.org/clinvar/324514 ^@ NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) http://identifiers.org/clinvar/316770 ^@ NM_001101362.2(KBTBD13):c.*1276G>T http://identifiers.org/clinvar/324564 ^@ NM_007215.3(POLG2):c.-81T>C http://identifiers.org/clinvar/316970 ^@ NM_017882.2(CLN6):c.*817C>T http://identifiers.org/clinvar/317070 ^@ NM_033028.4(BBS4):c.*43G>T http://identifiers.org/clinvar/317120 ^@ NM_022369.3(STRA6):c.-100G>A http://identifiers.org/clinvar/325264 ^@ NM_199242.2(UNC13D):c.1389+12G>A http://identifiers.org/clinvar/325765 ^@ NM_017950.3(CCDC40):c.*654A>C http://identifiers.org/clinvar/373481 ^@ NM_001854.3(COL11A1):c.4100C>T (p.Ala1367Val) http://identifiers.org/clinvar/373081 ^@ NM_001271208.1(NEB):c.17262G>A (p.Trp5754Ter) http://identifiers.org/clinvar/372412 ^@ NM_000179.2(MSH6):c.3267dupA (p.Glu1090Argfs) http://identifiers.org/clinvar/372361 ^@ NM_003907.2(EIF2B5):c.896G>A (p.Arg299His) http://identifiers.org/clinvar/373581 ^@ NM_001080522.2(CC2D2A):c.3076A>G (p.Lys1026Glu) http://identifiers.org/clinvar/373381 ^@ NM_006766.4(KAT6A):c.247C>T (p.Pro83Ser) http://identifiers.org/clinvar/373331 ^@ NM_003235.4(TG):c.6304G>C (p.Val2102Leu) http://identifiers.org/clinvar/372827 ^@ NM_000441.1(SLC26A4):c.1085C>A (p.Ala362Asp) http://identifiers.org/clinvar/373031 ^@ NM_153816.5(SNX14):c.1108G>T (p.Glu370Ter) http://identifiers.org/clinvar/373131 ^@ NM_017780.3(CHD7):c.6304G>T (p.Val2102Phe) http://identifiers.org/clinvar/373731 ^@ NM_017780.3(CHD7):c.5177_5190delGCTACAAGAAACACinsT (p.Ser1726Ilefs) http://identifiers.org/clinvar/373431 ^@ NM_003070.4(SMARCA2):c.3484C>T (p.Arg1162Cys) http://identifiers.org/clinvar/373281 ^@ NM_001909.4(CTSD):c.1010C>T (p.Ala337Val) http://identifiers.org/clinvar/373781 ^@ NM_006329.3(FBLN5):c.255_266delGACCCCCTACTC (p.Thr86_Ser89del) http://identifiers.org/clinvar/373631 ^@ NM_001042432.1(CLN3):c.1013G>A (p.Arg338His) http://identifiers.org/clinvar/373681 ^@ NM_025137.3(SPG11):c.6010T>G (p.Leu2004Val) http://identifiers.org/clinvar/373531 ^@ NM_016373.3(WWOX):c.851A>G (p.Lys284Arg) http://identifiers.org/clinvar/373231 ^@ NM_178452.5(DNAAF1):c.2120C>T (p.Pro707Leu) http://identifiers.org/clinvar/372981 ^@ NM_001127221.1(CACNA1A):c.409G>A (p.Glu137Lys) http://identifiers.org/clinvar/372931 ^@ NM_030662.3(MAP2K2):c.826G>C (p.Glu276Gln) http://identifiers.org/clinvar/373181 ^@ NM_001456.3(FLNA):c.4083C>A (p.His1361Gln) http://identifiers.org/clinvar/372878 ^@ NM_004299.4(ABCB7):c.1238T>C (p.Met413Thr) http://identifiers.org/clinvar/373831 ^@ NG_012772.3:g.16099_30416del14318 http://identifiers.org/clinvar/373881 ^@ NG_005905.2:g.(122139_123344)_(126550_126951)dup http://identifiers.org/clinvar/374034 ^@ NM_024757.4(EHMT1):c.2712+1G>A http://identifiers.org/clinvar/374184 ^@ NM_030751.5(ZEB1):c.973C>T (p.Arg325Ter) http://identifiers.org/clinvar/373984 ^@ NM_001161352.1(KCNMA1):c.1361C>A (p.Ala454Asp) http://identifiers.org/clinvar/374084 ^@ NM_000190.3(HMBS):c.400delC (p.Leu134Terfs) http://identifiers.org/clinvar/374134 ^@ NM_000021.3(PSEN1):c.314T>G (p.Phe105Cys) http://identifiers.org/clinvar/373934 ^@ NM_001097642.2(GJB1):c.502T>G (p.Cys168Gly) http://identifiers.org/clinvar/374999 ^@ NM_172107.3(KCNQ2):c.1569_1581delCCCCTGCGAGTTT (p.Cys523Trpfs) http://identifiers.org/clinvar/374875 ^@ NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) http://identifiers.org/clinvar/374942 ^@ NM_000069.2(CACNA1S):c.3416A>C (p.His1139Pro) http://identifiers.org/clinvar/375327 ^@ NM_018668.4(VPS33B):c.1030+1G>T http://identifiers.org/clinvar/375273 ^@ NM_000405.4(GM2A):c.472G>T (p.Glu158Ter) http://identifiers.org/clinvar/375378 ^@ NM_018897.2(DNAH7):c.10753T>C (p.Phe3585Leu) http://identifiers.org/clinvar/375433 ^@ der(6)t(6;10)(p25.2;q26.3) http://identifiers.org/clinvar/375502 ^@ NM_001005463.2(EBF3):c.280_283delGAGA (p.Glu94Lysfs) http://identifiers.org/clinvar/375552 ^@ NM_015213.3(DENND5A):c.2314C>T (p.Arg772Ter) http://identifiers.org/clinvar/375619 ^@ NM_001197104.1(KMT2A):c.6080G>A (p.Gly2027Glu) http://identifiers.org/clinvar/375670 ^@ NM_001199633.1(SLC28A3):c.862-360C>T http://identifiers.org/clinvar/375764 ^@ NM_015295.2(SMCHD1):c.408A>C (p.Glu136Asp) http://identifiers.org/clinvar/375814 ^@ NM_000527.4(LDLR):c.1330delT (p.Ser444Leufs) http://identifiers.org/clinvar/375864 ^@ NM_005215.3(DCC):c.3872G>A (p.Arg1291Gln) http://identifiers.org/clinvar/375917 ^@ NM_000222.2(KIT):c.1696A>G (p.Asn566Asp) http://identifiers.org/clinvar/379034 ^@ NM_000179.2(MSH6):c.3969T>C (p.Phe1323=) http://identifiers.org/clinvar/391899 ^@ NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) http://identifiers.org/clinvar/380525 ^@ NM_205847.2(GMPPA):c.1162+18C>T http://identifiers.org/clinvar/390410 ^@ NM_006302.2(MOGS):c.-77G>C http://identifiers.org/clinvar/392149 ^@ NM_053025.3(MYLK):c.2328G>A (p.Val776=) http://identifiers.org/clinvar/379284 ^@ NM_001904.3(CTNNB1):c.841A>T (p.Lys281Ter) http://identifiers.org/clinvar/387971 ^@ NM_133259.3(LRPPRC):c.1649+11C>T http://identifiers.org/clinvar/390310 ^@ NM_006514.3(SCN10A):c.3618G>A (p.Val1206=) http://identifiers.org/clinvar/387671 ^@ NM_152393.3(KLHL40):c.1313+7A>G http://identifiers.org/clinvar/388321 ^@ NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) http://identifiers.org/clinvar/386232 ^@ NM_004656.3(BAP1):c.54C>T (p.Leu18=) http://identifiers.org/clinvar/387921 ^@ NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) http://identifiers.org/clinvar/378076 ^@ NM_020117.10(LARS):c.3090G>A (p.Ser1030=) http://identifiers.org/clinvar/392299 ^@ NM_015425.4(POLR1A):c.176A>T (p.Asp59Val) http://identifiers.org/clinvar/389810 ^@ NM_183357.2(ADCY5):c.3169C>T (p.Arg1057Trp) http://identifiers.org/clinvar/378734 ^@ NM_024334.2(TMEM43):c.798G>A (p.Arg266=) http://identifiers.org/clinvar/385982 ^@ NM_000426.3(LAMA2):c.8774C>T (p.Pro2925Leu) http://identifiers.org/clinvar/392849 ^@ NM_032119.3(ADGRV1):c.11549A>G (p.Lys3850Arg) http://identifiers.org/clinvar/390460 ^@ NM_005670.3(EPM2A):c.396C>T (p.Ala132=) http://identifiers.org/clinvar/378380 ^@ NM_000535.6(PMS2):c.-33C>A http://identifiers.org/clinvar/390210 ^@ NM_000501.3(ELN):c.6G>A (p.Ala2=) http://identifiers.org/clinvar/392799 ^@ NM_022455.4(NSD1):c.8050G>A (p.Ala2684Thr) http://identifiers.org/clinvar/390360 ^@ NM_007255.2(B4GALT7):c.387C>T (p.Tyr129=) http://identifiers.org/clinvar/387371 ^@ NM_022132.4(MCCC2):c.1374-19C>A http://identifiers.org/clinvar/388121 ^@ NM_004408.3(DNM1):c.612C>T (p.Ile204=) http://identifiers.org/clinvar/387771 ^@ NM_032861.3(SERAC1):c.999T>C (p.Ser333=) http://identifiers.org/clinvar/390860 ^@ NM_018972.2(GDAP1):c.485-3C>T http://identifiers.org/clinvar/391010 ^@ NM_002485.4(NBN):c.2172G>A (p.Arg724=) http://identifiers.org/clinvar/392499 ^@ NM_012123.3(MTO1):c.1263T>C (p.Gly421=) http://identifiers.org/clinvar/133024 ^@ NM_000540.2(RYR1):c.11908-25C>G http://identifiers.org/clinvar/133074 ^@ NM_000540.2(RYR1):c.14512C>G (p.Leu4838Val) http://identifiers.org/clinvar/133124 ^@ NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) http://identifiers.org/clinvar/133416 ^@ NM_003820.3(TNFRSF14):c.552-165delG http://identifiers.org/clinvar/133466 ^@ NM_004304.4(ALK):c.3031G>A (p.Gly1011Arg) http://identifiers.org/clinvar/133517 ^@ NM_000038.5(APC):c.2586C>G (p.Asn862Lys) http://identifiers.org/clinvar/133617 ^@ NM_000051.3(ATM):c.3952G>T (p.Val1318Phe) http://identifiers.org/clinvar/134464 ^@ NM_001145661.1(GATA2):c.371C>A (p.Thr124Lys) http://identifiers.org/clinvar/134514 ^@ NM_005343.3(HRAS):c.473C>T (p.Thr158Met) http://identifiers.org/clinvar/134564 ^@ NM_004972.3(JAK2):c.1174G>A (p.Val392Met) http://identifiers.org/clinvar/134614 ^@ NM_002253.2(KDR):c.794C>T (p.Ser265Leu) http://identifiers.org/clinvar/134666 ^@ NM_003482.3(KMT2D):c.2222C>T (p.Pro741Leu) http://identifiers.org/clinvar/134717 ^@ NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) http://identifiers.org/clinvar/134767 ^@ NM_170606.2(KMT2C):c.6965T>C (p.Val2322Ala) http://identifiers.org/clinvar/134817 ^@ NM_170606.2(KMT2C):c.14017C>T (p.Arg4673Cys) http://identifiers.org/clinvar/134871 ^@ NM_001172567.1(MYD88):c.119T>C (p.Met40Thr) http://identifiers.org/clinvar/134921 ^@ NM_017617.4(NOTCH1):c.2734C>T (p.Arg912Trp) http://identifiers.org/clinvar/134971 ^@ NM_024408.3(NOTCH2):c.3779G>A (p.Arg1260His) http://identifiers.org/clinvar/135021 ^@ NM_006206.4(PDGFRA):c.2966T>C (p.Ile989Thr) http://identifiers.org/clinvar/135072 ^@ NM_000535.6(PMS2):c.817A>G (p.Ile273Val) http://identifiers.org/clinvar/135123 ^@ NM_000321.2(RB1):c.173C>T (p.Thr58Ile) http://identifiers.org/clinvar/135174 ^@ NM_004260.3(RECQL4):c.1576C>T (p.Leu526Phe) http://identifiers.org/clinvar/135204 ^@ NM_014159.6(SETD2):c.5900G>A (p.Gly1967Asp) http://identifiers.org/clinvar/135255 ^@ NM_001128849.1(SMARCA4):c.4216C>T (p.Arg1406Cys) http://identifiers.org/clinvar/135305 ^@ NM_001127208.2(TET2):c.2771A>G (p.His924Arg) http://identifiers.org/clinvar/135355 ^@ NM_003820.3(TNFRSF14):c.721G>A (p.Val241Ile) http://identifiers.org/clinvar/135406 ^@ NM_000551.3(VHL):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/135456 ^@ NM_001198551.1(WT1):c.653G>A (p.Arg218Gln) http://identifiers.org/clinvar/135506 ^@ NM_000545.6(HNF1A):c.1624-30C>T http://identifiers.org/clinvar/135556 ^@ NM_001127500.2(MET):c.1701+25A>G http://identifiers.org/clinvar/135631 ^@ NM_003482.3(KMT2D):c.5166delT (p.Ser1722Argfs) http://identifiers.org/clinvar/135691 ^@ NM_000038.5(APC):c.259C>T (p.Leu87=) http://identifiers.org/clinvar/135742 ^@ NM_000051.3(ATM):c.2127T>C (p.Ile709=) http://identifiers.org/clinvar/135797 ^@ NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) http://identifiers.org/clinvar/135851 ^@ NM_000249.3(MLH1):c.2190delT (p.Pro731Leufs) http://identifiers.org/clinvar/135901 ^@ NM_000264.3(PTCH1):c.430C>T (p.Arg144Cys) http://identifiers.org/clinvar/135951 ^@ NM_000551.3(VHL):c.183C>G (p.Pro61=) http://identifiers.org/clinvar/136003 ^@ NM_001166110.1(PALLD):c.219C>A (p.Phe73Leu) http://identifiers.org/clinvar/136053 ^@ NM_004329.2(BMPR1A):c.676-6A>C http://identifiers.org/clinvar/136104 ^@ NM_020975.4(RET):c.1724C>T (p.Thr575Ile) http://identifiers.org/clinvar/136154 ^@ NM_032043.2(BRIP1):c.778A>G (p.Thr260Ala) http://identifiers.org/clinvar/185356 ^@ NM_007294.3(BRCA1):c.2862A>C (p.Leu954=) http://identifiers.org/clinvar/184217 ^@ NM_007294.3(BRCA1):c.756T>C (p.Arg252=) http://identifiers.org/clinvar/185706 ^@ NM_007294.3(BRCA1):c.507G>A (p.Gln169=) http://identifiers.org/clinvar/183916 ^@ NM_007294.3(BRCA1):c.426C>T (p.Pro142=) http://identifiers.org/clinvar/185806 ^@ NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) http://identifiers.org/clinvar/184806 ^@ NM_032043.2(BRIP1):c.36G>C (p.Gly12=) http://identifiers.org/clinvar/185756 ^@ NM_000455.4(STK11):c.943C>T (p.Pro315Ser) http://identifiers.org/clinvar/187801 ^@ NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del) http://identifiers.org/clinvar/187880 ^@ NM_005957.4(MTHFR):c.677_679delTCA (p.Ile226del) http://identifiers.org/clinvar/187930 ^@ NM_004409.4(DMPK):c.*224_*226[169] http://identifiers.org/clinvar/187980 ^@ NM_004409.4(DMPK):c.*224_*226[435] http://identifiers.org/clinvar/188030 ^@ NM_004409.4(DMPK):c.*224_*226[780] http://identifiers.org/clinvar/188182 ^@ NM_000038.5(APC):c.5430T>G (p.Asp1810Glu) http://identifiers.org/clinvar/188080 ^@ NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) http://identifiers.org/clinvar/188287 ^@ NM_000535.6(PMS2):c.1828A>G (p.Lys610Glu) http://identifiers.org/clinvar/188339 ^@ NM_000051.3(ATM):c.5612C>T (p.Thr1871Ile) http://identifiers.org/clinvar/188396 ^@ NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) http://identifiers.org/clinvar/188131 ^@ NM_024675.3(PALB2):c.3106G>C (p.Val1036Leu) http://identifiers.org/clinvar/188234 ^@ NM_005359.5(SMAD4):c.172A>G (p.Ile58Val) http://identifiers.org/clinvar/188550 ^@ NM_000256.3(MYBPC3):c.1458-26C>G http://identifiers.org/clinvar/188650 ^@ NM_000257.3(MYH7):c.*23C>T http://identifiers.org/clinvar/188600 ^@ NM_000257.3(MYH7):c.733-16delT http://identifiers.org/clinvar/188700 ^@ NM_001018005.1(TPM1):c.603G>A (p.Thr201=) http://identifiers.org/clinvar/188450 ^@ NM_001943.4(DSG2):c.523+1G>C http://identifiers.org/clinvar/188500 ^@ NM_004992.3(MECP2):c.1013C>G (p.Thr338Ser) http://identifiers.org/clinvar/188750 ^@ NM_000478.5(ALPL):c.791A>G (p.Lys264Arg) http://identifiers.org/clinvar/188901 ^@ NM_000051.3(ATM):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/188850 ^@ NM_000391.3(TPP1):c.972_979delCTATGGAG (p.Ser324Argfs) http://identifiers.org/clinvar/188800 ^@ NM_000383.3(AIRE):c.463+2T>C http://identifiers.org/clinvar/189965 ^@ NM_001165963.1(SCN1A):c.5515C>G (p.Leu1839Val) http://identifiers.org/clinvar/189865 ^@ NM_001165963.1(SCN1A):c.2946+1_2946+2delGT http://identifiers.org/clinvar/189915 ^@ NM_001165963.1(SCN1A):c.728C>A (p.Ser243Tyr) http://identifiers.org/clinvar/190015 ^@ NM_001165963.1(SCN1A):c.4338_6030del http://identifiers.org/clinvar/190150 ^@ NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) http://identifiers.org/clinvar/229317 ^@ NM_138691.2(TMC1):c.1705A>G (p.Thr569Ala) http://identifiers.org/clinvar/227225 ^@ NM_022124.5(CDH23):c.4210-14A>C http://identifiers.org/clinvar/226924 ^@ NM_001277269.1(OTOG):c.879G>A (p.Lys293=) http://identifiers.org/clinvar/226874 ^@ NM_001277269.1(OTOG):c.2759G>T (p.Arg920Leu) http://identifiers.org/clinvar/226974 ^@ NM_173591.3(OTOGL):c.681C>T (p.Asp227=) http://identifiers.org/clinvar/229117 ^@ NM_173591.3(OTOGL):c.3349C>A (p.Gln1117Lys) http://identifiers.org/clinvar/226824 ^@ NM_003803.3(MYOM1):c.461C>T (p.Thr154Met) http://identifiers.org/clinvar/227526 ^@ NM_144612.6(LOXHD1):c.4740+13G>T http://identifiers.org/clinvar/226724 ^@ NM_001042545.1(LTBP4):c.135C>T (p.Cys45=) http://identifiers.org/clinvar/227125 ^@ NM_001039141.2(TRIOBP):c.4165C>A (p.Leu1389Ile) http://identifiers.org/clinvar/229367 ^@ NM_138632.2(TRIOBP):c.1273G>A (p.Ala425Thr) http://identifiers.org/clinvar/229267 ^@ NM_006941.3(SOX10):c.313A>C (p.Lys105Gln) http://identifiers.org/clinvar/227276 ^@ NM_001885.2(CRYAB):c.42C>T (p.Phe14=) http://identifiers.org/clinvar/227476 ^@ NM_002290.4(LAMA4):c.3354G>A (p.Thr1118=) http://identifiers.org/clinvar/234255 ^@ NM_018136.4(ASPM):c.6107T>G (p.Val2036Gly) http://identifiers.org/clinvar/234433 ^@ NM_001035.2(RYR2):c.10970G>A (p.Gly3657Asp) http://identifiers.org/clinvar/234483 ^@ NM_000179.2(MSH6):c.1858G>A (p.Gly620Ser) http://identifiers.org/clinvar/234534 ^@ NM_024577.3(SH3TC2):c.1402_1403delGC (p.Ala468Profs) http://identifiers.org/clinvar/234312 ^@ NM_000136.2(FANCC):c.1508C>T (p.Thr503Met) http://identifiers.org/clinvar/234363 ^@ NM_000243.2(MEFV):c.1759+1G>A http://identifiers.org/clinvar/233951 ^@ NM_000546.5(TP53):c.517G>A (p.Val173Met) http://identifiers.org/clinvar/229669 ^@ NM_003000.2(SDHB):c.540+4_540+10delATTAGTC http://identifiers.org/clinvar/233298 ^@ NM_000179.2(MSH6):c.1403G>C (p.Arg468Pro) http://identifiers.org/clinvar/230508 ^@ NM_000179.2(MSH6):c.1898delC (p.Thr633Ilefs) http://identifiers.org/clinvar/231458 ^@ NM_000179.2(MSH6):c.2181C>G (p.Thr727=) http://identifiers.org/clinvar/233750 ^@ NM_000249.3(MLH1):c.1766C>T (p.Ala589Val) http://identifiers.org/clinvar/234001 ^@ NM_000038.5(APC):c.1342C>G (p.Pro448Ala) http://identifiers.org/clinvar/233448 ^@ NM_000038.5(APC):c.1691G>A (p.Arg564Gln) http://identifiers.org/clinvar/264400 ^@ NM_020433.4(JPH2):c.972C>T (p.His324=) http://identifiers.org/clinvar/264350 ^@ NM_001456.3(FLNA):c.2001C>T (p.Pro667=) http://identifiers.org/clinvar/264655 ^@ NM_001204.6(BMPR2):c.174_175dupAT (p.Leu59Tyrfs) http://identifiers.org/clinvar/264715 ^@ NM_001242896.1(DEPDC5):c.279+1G>A http://identifiers.org/clinvar/264770 ^@ CCNA2, 1-BP INS http://identifiers.org/clinvar/264870 ^@ NM_000059.3(BRCA2):c.317-1215A>T http://identifiers.org/clinvar/264820 ^@ NM_007294.3(BRCA1):c.5278-542G>A http://identifiers.org/clinvar/265670 ^@ NM_022455.4(NSD1):c.3387_3389delTGAinsGG (p.Phe1129Leufs) http://identifiers.org/clinvar/265752 ^@ NM_024818.4(UBA5):c.778G>A (p.Val260Met) http://identifiers.org/clinvar/265857 ^@ NM_000451.3(SHOX):c.528G= (p.Glu176=) http://identifiers.org/clinvar/265909 ^@ NM_000527.4(LDLR):c.*13A>G http://identifiers.org/clinvar/265962 ^@ NM_000050.4(ASS1):c.970+5G>A http://identifiers.org/clinvar/266014 ^@ NM_032119.3(ADGRV1):c.7606G>T (p.Glu2536Ter) http://identifiers.org/clinvar/266091 ^@ NM_017777.3(MKS1):c.261+2T>A http://identifiers.org/clinvar/266991 ^@ NM_000059.3(BRCA2):c.71T>G (p.Leu24Ter) http://identifiers.org/clinvar/266891 ^@ NM_000059.3(BRCA2):c.569_570insAACG (p.Asp191Thrfs) http://identifiers.org/clinvar/266641 ^@ NM_000059.3(BRCA2):c.1508delA (p.Lys503Serfs) http://identifiers.org/clinvar/266691 ^@ NM_000059.3(BRCA2):c.2266dupC (p.Gln756Profs) http://identifiers.org/clinvar/266741 ^@ NM_000059.3(BRCA2):c.3248delA (p.Asn1083Ilefs) http://identifiers.org/clinvar/266791 ^@ NM_000059.3(BRCA2):c.4098_4099insCATC (p.Lys1367Hisfs) http://identifiers.org/clinvar/266841 ^@ NM_000059.3(BRCA2):c.4981delT (p.Tyr1661Ilefs) http://identifiers.org/clinvar/266941 ^@ NM_000059.3(BRCA2):c.6356dupA (p.Asn2119Lysfs) http://identifiers.org/clinvar/267041 ^@ NM_000059.3(BRCA2):c.7887G>A (p.Trp2629Ter) http://identifiers.org/clinvar/266541 ^@ NM_007294.3(BRCA1):c.5282delT (p.Phe1761Serfs) http://identifiers.org/clinvar/266491 ^@ NM_007294.3(BRCA1):c.4699_4708delGGAATCAGCC (p.Gly1567Serfs) http://identifiers.org/clinvar/266441 ^@ NM_007294.3(BRCA1):c.4079delG (p.Ser1360Thrfs) http://identifiers.org/clinvar/266391 ^@ NM_007294.3(BRCA1):c.3604delT (p.Tyr1202Thrfs) http://identifiers.org/clinvar/266341 ^@ NM_007294.3(BRCA1):c.3203_3206delTTCA (p.Ile1068Lysfs) http://identifiers.org/clinvar/266291 ^@ NM_007294.3(BRCA1):c.2678dupA (p.Lys894Glufs) http://identifiers.org/clinvar/266241 ^@ NM_007294.3(BRCA1):c.2218delG (p.Val740Cysfs) http://identifiers.org/clinvar/266141 ^@ NM_007294.3(BRCA1):c.1174delC (p.Leu392Cysfs) http://identifiers.org/clinvar/266591 ^@ NM_007294.3(BRCA1):c.923_924delGC (p.Ser308Lysfs) http://identifiers.org/clinvar/266191 ^@ NM_007294.3(BRCA1):c.182_183insGCGC (p.Cys61Trpfs) http://identifiers.org/clinvar/268205 ^@ NM_002285.2(AFF3):c.696_697insT (p.Ala233Cysfs) http://identifiers.org/clinvar/279613 ^@ NM_030813.5(CLPB):c.2045T>A (p.Ile682Asn) http://identifiers.org/clinvar/290920 ^@ NM_033071.3(SYNE1):c.12847C>T (p.Gln4283Ter) http://identifiers.org/clinvar/290970 ^@ NM_000466.2(PEX1):c.2021C>T (p.Pro674Leu) http://identifiers.org/clinvar/291020 ^@ NM_022437.2(ABCG8):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/291070 ^@ NM_033071.3(SYNE1):c.14961C>T (p.Thr4987=) http://identifiers.org/clinvar/291120 ^@ NM_004369.3(COL6A3):c.6237C>T (p.Asn2079=) http://identifiers.org/clinvar/291171 ^@ NM_024301.4(FKRP):c.1154C>T (p.Ser385Leu) http://identifiers.org/clinvar/291221 ^@ NM_004369.3(COL6A3):c.7908T>C (p.Asn2636=) http://identifiers.org/clinvar/291271 ^@ NM_006796.2(AFG3L2):c.1186G>A (p.Ala396Thr) http://identifiers.org/clinvar/291386 ^@ NM_001918.3(DBT):c.*8275A>G http://identifiers.org/clinvar/291436 ^@ NM_001918.3(DBT):c.*2074A>C http://identifiers.org/clinvar/291486 ^@ NM_001854.3(COL11A1):c.*579A>G http://identifiers.org/clinvar/291536 ^@ NM_001854.3(COL11A1):c.1320C>T (p.Val440=) http://identifiers.org/clinvar/291586 ^@ NM_015074.3(KIF1B):c.*279_*280dupCA http://identifiers.org/clinvar/291678 ^@ NM_004565.2(PEX14):c.513C>A (p.Ala171=) http://identifiers.org/clinvar/291728 ^@ NM_007375.3(TARDBP):c.-122G>A http://identifiers.org/clinvar/291878 ^@ NM_013319.2(UBIAD1):c.*531C>A http://identifiers.org/clinvar/291778 ^@ NM_006610.3(MASP2):c.1727C>T (p.Thr576Ile) http://identifiers.org/clinvar/291828 ^@ NM_003051.3(SLC16A1):c.*1876G>C http://identifiers.org/clinvar/292178 ^@ NM_005957.4(MTHFR):c.*3088C>T http://identifiers.org/clinvar/291978 ^@ NM_002524.4(NRAS):c.-132C>T http://identifiers.org/clinvar/292278 ^@ NM_000302.3(PLOD1):c.169-11T>C http://identifiers.org/clinvar/291928 ^@ NM_000036.2(AMPD1):c.1750A>T (p.Asn584Tyr) http://identifiers.org/clinvar/292128 ^@ NM_001232.3(CASQ2):c.943G>A (p.Val315Ile) http://identifiers.org/clinvar/292028 ^@ NM_138959.2(VANGL1):c.*707C>T http://identifiers.org/clinvar/292728 ^@ NM_001111.4(ADAR):c.*1036C>G http://identifiers.org/clinvar/292428 ^@ NM_213653.3(HFE2):c.756C>T (p.Ile252=) http://identifiers.org/clinvar/292078 ^@ NM_138959.2(VANGL1):c.*4731C>T http://identifiers.org/clinvar/292828 ^@ NM_005572.3(LMNA):c.-138T>C http://identifiers.org/clinvar/292628 ^@ NM_152263.3(TPM3):c.*5594G>T http://identifiers.org/clinvar/292678 ^@ NM_152263.3(TPM3):c.*1246_*1247dupAA http://identifiers.org/clinvar/293028 ^@ NM_003126.2(SPTA1):c.1834-16_1834-14delTTT http://identifiers.org/clinvar/292228 ^@ NM_005957.4(MTHFR):c.*22G>A http://identifiers.org/clinvar/292778 ^@ NM_001111.4(ADAR):c.1402G>T (p.Ala468Ser) http://identifiers.org/clinvar/292328 ^@ NM_005518.3(HMGCS2):c.1513C>T (p.Arg505Trp) http://identifiers.org/clinvar/292928 ^@ NM_003126.2(SPTA1):c.*125_*132dupTGTGTGTG http://identifiers.org/clinvar/292378 ^@ NM_014874.3(MFN2):c.2145C>T (p.Ala715=) http://identifiers.org/clinvar/292478 ^@ NM_005850.4(SF3B4):c.707-8C>A http://identifiers.org/clinvar/293078 ^@ NM_002241.4(KCNJ10):c.*2971G>A http://identifiers.org/clinvar/292528 ^@ NM_019032.5(ADAMTSL4):c.1118C>A (p.Ala373Asp) http://identifiers.org/clinvar/292578 ^@ NM_019032.5(ADAMTSL4):c.*670C>G http://identifiers.org/clinvar/292878 ^@ NM_001012331.1(NTRK1):c.570C>G (p.Ser190Arg) http://identifiers.org/clinvar/292978 ^@ NM_003126.2(SPTA1):c.4969T>C (p.Leu1657=) http://identifiers.org/clinvar/293767 ^@ NM_022089.3(ATP13A2):c.3378C>T (p.Leu1126=) http://identifiers.org/clinvar/293667 ^@ NM_152281.2(GORAB):c.*534T>C http://identifiers.org/clinvar/293717 ^@ NM_000261.1(MYOC):c.477A>G (p.Leu159=) http://identifiers.org/clinvar/336283 ^@ NM_001430.4(EPAS1):c.*54C>T http://identifiers.org/clinvar/336390 ^@ NM_139279.5(MCFD2):c.-95_-92delCGGG http://identifiers.org/clinvar/336440 ^@ NM_000179.2(MSH6):c.531A>T (p.Gln177His) http://identifiers.org/clinvar/336640 ^@ NM_001039348.2(EFEMP1):c.-136C>G http://identifiers.org/clinvar/336333 ^@ NM_139279.5(MCFD2):c.*2789G>C http://identifiers.org/clinvar/336690 ^@ NM_002618.3(PEX13):c.*1533G>C http://identifiers.org/clinvar/336740 ^@ NM_032180.2(FAM161A):c.916C>T (p.Arg306Trp) http://identifiers.org/clinvar/336383 ^@ NM_139279.5(MCFD2):c.236T>C (p.Met79Thr) http://identifiers.org/clinvar/336840 ^@ NM_002056.3(GFPT1):c.*2269A>G http://identifiers.org/clinvar/336890 ^@ NM_001002755.2(NFU1):c.303-13dupT http://identifiers.org/clinvar/336540 ^@ NM_001135659.2(NRXN1):c.*98A>G http://identifiers.org/clinvar/346158 ^@ NM_052859.3(RFT1):c.*2165T>C http://identifiers.org/clinvar/346308 ^@ NM_001457.3(FLNB):c.1278C>T (p.His426=) http://identifiers.org/clinvar/337579 ^@ NM_020184.3(CNNM4):c.243C>T (p.Tyr81=) http://identifiers.org/clinvar/337629 ^@ NM_001079.3(ZAP70):c.516G>A (p.Glu172=) http://identifiers.org/clinvar/337679 ^@ NM_001298.2(CNGA3):c.*838T>C http://identifiers.org/clinvar/342459 ^@ NM_000551.3(VHL):c.*2034T>G http://identifiers.org/clinvar/342509 ^@ NM_000551.3(VHL):c.*3603C>T http://identifiers.org/clinvar/346908 ^@ NM_182896.2(ARL13B):c.30C>T (p.Gly10=) http://identifiers.org/clinvar/342559 ^@ NM_198196.2(CD96):c.*713C>T http://identifiers.org/clinvar/347258 ^@ NM_001963.5(EGF):c.3371-4A>G http://identifiers.org/clinvar/347308 ^@ NM_001148.4(ANK2):c.981A>G (p.Ala327=) http://identifiers.org/clinvar/342859 ^@ NM_053025.3(MYLK):c.*197T>A http://identifiers.org/clinvar/342909 ^@ NM_053025.3(MYLK):c.123C>A (p.Asn41Lys) http://identifiers.org/clinvar/346258 ^@ NM_003392.4(WNT5A):c.*1103C>G http://identifiers.org/clinvar/343059 ^@ NM_025265.3(TSEN2):c.-209G>T http://identifiers.org/clinvar/346408 ^@ NM_000925.3(PDHB):c.640C>T (p.Pro214Ser) http://identifiers.org/clinvar/346458 ^@ NM_198859.3(PRICKLE2):c.*1277C>G http://identifiers.org/clinvar/346558 ^@ NM_032682.5(FOXP1):c.*3419_*3420dupCG http://identifiers.org/clinvar/346608 ^@ NM_032682.5(FOXP1):c.*1208C>T http://identifiers.org/clinvar/346658 ^@ NM_032682.5(FOXP1):c.-385C>T http://identifiers.org/clinvar/348247 ^@ NM_001151.3(SLC25A4):c.756G>A (p.Thr252=) http://identifiers.org/clinvar/346808 ^@ NM_014043.3(CHMP2B):c.549A>G (p.Ser183=) http://identifiers.org/clinvar/348397 ^@ NM_000128.3(F11):c.*1033A>G http://identifiers.org/clinvar/348447 ^@ NM_133330.2(NSD2):c.3582A>G (p.Gly1194=) http://identifiers.org/clinvar/361863 ^@ NM_004519.3(KCNQ3):c.*753_*754delCA http://identifiers.org/clinvar/353925 ^@ NM_001104631.1(PDE4D):c.*4039G>T http://identifiers.org/clinvar/362163 ^@ NM_000497.3(CYP11B1):c.606G>A (p.Leu202=) http://identifiers.org/clinvar/362213 ^@ NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) http://identifiers.org/clinvar/362263 ^@ NM_130849.3(SLC39A4):c.251C>T (p.Pro84Leu) http://identifiers.org/clinvar/354225 ^@ NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) http://identifiers.org/clinvar/362313 ^@ NM_006765.3(TUSC3):c.768T>C (p.Tyr256=) http://identifiers.org/clinvar/354375 ^@ NM_002454.2(MTRR):c.*709T>C http://identifiers.org/clinvar/354325 ^@ NM_000046.3(ARSB):c.-331G>A http://identifiers.org/clinvar/359214 ^@ NM_014141.5(CNTNAP2):c.*1179_*1182delTCTT http://identifiers.org/clinvar/359264 ^@ NM_014141.5(CNTNAP2):c.*4089A>G http://identifiers.org/clinvar/359414 ^@ NM_022458.3(LMBR1):c.*166G>T http://identifiers.org/clinvar/359464 ^@ NM_058246.3(DNAJB6):c.*489T>C http://identifiers.org/clinvar/359564 ^@ NM_001101426.3(ISPD):c.*1080G>A http://identifiers.org/clinvar/359764 ^@ NM_032581.3(FAM126A):c.*198T>G http://identifiers.org/clinvar/363952 ^@ NM_018444.3(PDP1):c.*631G>C http://identifiers.org/clinvar/359964 ^@ NM_005522.4(HOXA1):c.255C>G (p.Asn85Lys) http://identifiers.org/clinvar/360064 ^@ NM_198428.2(BBS9):c.1553-11T>C http://identifiers.org/clinvar/360114 ^@ NM_133468.4(BMPER):c.1724T>C (p.Val575Ala) http://identifiers.org/clinvar/364502 ^@ NM_001079802.1(FKTN):c.*1681G>A http://identifiers.org/clinvar/364752 ^@ NM_018249.5(CDK5RAP2):c.5049G>A (p.Glu1683=) http://identifiers.org/clinvar/360953 ^@ NM_000089.3(COL1A2):c.1186C>T (p.Pro396Ser) http://identifiers.org/clinvar/361153 ^@ NM_015713.4(RRM2B):c.*1953A>G http://identifiers.org/clinvar/361403 ^@ NM_178857.5(RP1L1):c.568C>A (p.Arg190Ser) http://identifiers.org/clinvar/356925 ^@ NM_006502.2(POLH):c.*700T>C http://identifiers.org/clinvar/356975 ^@ NM_006502.2(POLH):c.*3067A>T http://identifiers.org/clinvar/365791 ^@ NM_000093.4(COL5A1):c.*2395G>T http://identifiers.org/clinvar/356825 ^@ NM_014780.4(CUL7):c.4323C>T (p.Gly1441=) http://identifiers.org/clinvar/365892 ^@ NM_019892.5(INPP5E):c.547C>T (p.Pro183Ser) http://identifiers.org/clinvar/365992 ^@ NM_024757.4(EHMT1):c.251G>A (p.Gly84Asp) http://identifiers.org/clinvar/361713 ^@ NM_014846.3(WASHC5):c.3200C>T (p.Pro1067Leu) http://identifiers.org/clinvar/357125 ^@ NM_001024630.3(RUNX2):c.*2382G>A http://identifiers.org/clinvar/366042 ^@ NM_024757.4(EHMT1):c.*667C>T http://identifiers.org/clinvar/357175 ^@ NM_012120.2(CD2AP):c.1531-15T>A http://identifiers.org/clinvar/357025 ^@ NM_020745.3(AARS2):c.*1706C>T http://identifiers.org/clinvar/361813 ^@ NM_004519.3(KCNQ3):c.*4008G>A http://identifiers.org/clinvar/366192 ^@ NM_144966.5(FREM1):c.-770C>T http://identifiers.org/clinvar/357225 ^@ NM_012120.2(CD2AP):c.*2228dupT http://identifiers.org/clinvar/366292 ^@ NM_002451.3(MTAP):c.*2279T>G http://identifiers.org/clinvar/303144 ^@ NM_018400.3(SCN3B):c.*3076C>T http://identifiers.org/clinvar/367192 ^@ NM_000170.2(GLDC):c.1424C>T (p.Thr475Ile) http://identifiers.org/clinvar/303244 ^@ NM_022370.3(ROBO3):c.1752T>G (p.Ala584=) http://identifiers.org/clinvar/366742 ^@ NM_004629.1(FANCG):c.-392A>G http://identifiers.org/clinvar/311642 ^@ NM_015972.3(POLR1D):c.-124C>T http://identifiers.org/clinvar/311742 ^@ NM_015087.4(SPG20):c.*2127_*2130delGATA http://identifiers.org/clinvar/311792 ^@ NM_000538.3(RFXAP):c.801T>C (p.Phe267=) http://identifiers.org/clinvar/367042 ^@ NM_004170.5(SLC1A1):c.414G>A (p.Thr138=) http://identifiers.org/clinvar/311892 ^@ NM_001127217.2(SMAD9):c.*47G>A http://identifiers.org/clinvar/312092 ^@ NM_207361.5(FREM2):c.*4731G>A http://identifiers.org/clinvar/364152 ^@ NM_004612.3(TGFBR1):c.*2768T>A http://identifiers.org/clinvar/364202 ^@ NM_033087.3(ALG2):c.*180A>G http://identifiers.org/clinvar/312142 ^@ NM_020751.2(COG6):c.1149T>G (p.Phe383Leu) http://identifiers.org/clinvar/312192 ^@ NM_014252.3(SLC25A15):c.*639G>A http://identifiers.org/clinvar/298666 ^@ NM_017649.4(CNNM2):c.*891G>T http://identifiers.org/clinvar/304283 ^@ NM_000510.2(FSHB):c.*635A>G http://identifiers.org/clinvar/304333 ^@ NM_000280.4(PAX6):c.*2238T>G http://identifiers.org/clinvar/298516 ^@ NM_021830.4(TWNK):c.*619G>A http://identifiers.org/clinvar/304483 ^@ NM_003477.2(PDHX):c.*650G>A http://identifiers.org/clinvar/304533 ^@ NM_000448.2(RAG1):c.*2530G>T http://identifiers.org/clinvar/304783 ^@ NM_004813.2(PEX16):c.*158A>C http://identifiers.org/clinvar/304833 ^@ NM_002334.3(LRP4):c.*1017C>T http://identifiers.org/clinvar/304883 ^@ NM_002334.3(LRP4):c.1695G>A (p.Glu565=) http://identifiers.org/clinvar/304983 ^@ NM_005055.4(RAPSN):c.-72C>T http://identifiers.org/clinvar/313681 ^@ NM_182914.2(SYNE2):c.*386G>C http://identifiers.org/clinvar/313831 ^@ NM_002382.4(MAX):c.-140_-139dupTG http://identifiers.org/clinvar/314031 ^@ NM_031427.3(DNAL1):c.*761C>T http://identifiers.org/clinvar/299705 ^@ NM_014317.4(PDSS1):c.*110_*113dupGATA http://identifiers.org/clinvar/314081 ^@ NM_031427.3(DNAL1):c.*3905G>A http://identifiers.org/clinvar/314331 ^@ NM_014239.3(EIF2B2):c.433+15C>T http://identifiers.org/clinvar/305485 ^@ NM_024649.4(BBS1):c.*1215T>C http://identifiers.org/clinvar/299955 ^@ NM_002900.2(RBP3):c.2949G>C (p.Glu983Asp) http://identifiers.org/clinvar/314531 ^@ NM_013382.5(POMT2):c.*1137G>A http://identifiers.org/clinvar/299505 ^@ NM_001081.3(CUBN):c.2483G>A (p.Arg828His) http://identifiers.org/clinvar/300055 ^@ NM_000124.3(ERCC6):c.2989A>G (p.Lys997Glu) http://identifiers.org/clinvar/306148 ^@ NM_000260.3(MYO7A):c.-170C>T http://identifiers.org/clinvar/300755 ^@ NM_002658.4(PLAU):c.750G>C (p.Gly250=) http://identifiers.org/clinvar/300805 ^@ NM_014000.2(VCL):c.*698C>A http://identifiers.org/clinvar/317621 ^@ NM_000875.4(IGF1R):c.*5742C>G http://identifiers.org/clinvar/311092 ^@ NM_001846.3(COL4A2):c.-203T>C http://identifiers.org/clinvar/309798 ^@ NM_002206.2(ITGA7):c.546G>A (p.Lys182=) http://identifiers.org/clinvar/311192 ^@ NM_001846.3(COL4A2):c.4929G>A (p.Pro1643=) http://identifiers.org/clinvar/329443 ^@ NM_014297.4(ETHE1):c.317G>C (p.Ser106Thr) http://identifiers.org/clinvar/311492 ^@ NM_014363.5(SACS):c.*942A>G http://identifiers.org/clinvar/318212 ^@ NM_014714.3(IFT140):c.491+7G>A http://identifiers.org/clinvar/311542 ^@ NM_014363.5(SACS):c.4976T>G (p.Val1659Gly) http://identifiers.org/clinvar/310148 ^@ NM_001038.5(SCNN1A):c.826G>T (p.Gly276Cys) http://identifiers.org/clinvar/318362 ^@ NM_001039.3(SCNN1G):c.*154G>T http://identifiers.org/clinvar/330343 ^@ NM_000208.3(INSR):c.*4794T>C http://identifiers.org/clinvar/311942 ^@ NM_207361.5(FREM2):c.913G>A (p.Val305Ile) http://identifiers.org/clinvar/318762 ^@ NM_003321.4(TUFM):c.-128G>C http://identifiers.org/clinvar/330393 ^@ NM_000208.3(INSR):c.*2149C>T http://identifiers.org/clinvar/311992 ^@ NM_207361.5(FREM2):c.5434G>A (p.Ala1812Thr) http://identifiers.org/clinvar/312042 ^@ NM_207361.5(FREM2):c.9429G>A (p.Gly3143=) http://identifiers.org/clinvar/330543 ^@ NM_006702.4(PNPLA6):c.*139G>A http://identifiers.org/clinvar/318912 ^@ NM_006662.2(SRCAP):c.8907C>T (p.Pro2969=) http://identifiers.org/clinvar/330593 ^@ NM_030957.3(ADAMTS10):c.1994G>A (p.Arg665His) http://identifiers.org/clinvar/319012 ^@ NM_004960.3(FUS):c.*1230C>G http://identifiers.org/clinvar/319062 ^@ NM_003041.3(SLC5A2):c.1297A>G (p.Ile433Val) http://identifiers.org/clinvar/337829 ^@ NM_024411.4(PDYN):c.*346G>A http://identifiers.org/clinvar/319212 ^@ NM_032575.2(GLIS2):c.505G>A (p.Val169Met) http://identifiers.org/clinvar/312342 ^@ NM_000053.3(ATP7B):c.*1782delC http://identifiers.org/clinvar/337979 ^@ NM_014588.5(VSX1):c.-271G>T http://identifiers.org/clinvar/312492 ^@ NM_052910.2(SLITRK1):c.*544C>A http://identifiers.org/clinvar/338029 ^@ NM_006899.4(IDH3B):c.66A>G (p.Ala22=) http://identifiers.org/clinvar/319462 ^@ NM_022162.2(NOD2):c.2264C>T (p.Ala755Val) http://identifiers.org/clinvar/319613 ^@ NM_002968.2(SALL1):c.649G>A (p.Gly217Ser) http://identifiers.org/clinvar/338329 ^@ NM_015474.3(SAMHD1):c.*711A>C http://identifiers.org/clinvar/312692 ^@ NM_022489.3(INF2):c.1755G>A (p.Ala585=) http://identifiers.org/clinvar/338529 ^@ NM_000308.3(CTSA):c.522C>T (p.Ala174=) http://identifiers.org/clinvar/338830 ^@ NM_000782.4(CYP24A1):c.577C>A (p.Leu193Ile) http://identifiers.org/clinvar/338880 ^@ NM_002591.3(PCK1):c.556G>A (p.Asp186Asn) http://identifiers.org/clinvar/311692 ^@ NM_004795.3(KL):c.1155G>A (p.Lys385=) http://identifiers.org/clinvar/339380 ^@ NM_025219.2(DNAJC5):c.*1106T>G http://identifiers.org/clinvar/312242 ^@ NM_003701.3(TNFSF11):c.*159G>A http://identifiers.org/clinvar/313931 ^@ NM_015346.3(ZFYVE26):c.266G>C (p.Arg89Pro) http://identifiers.org/clinvar/312292 ^@ NM_000321.2(RB1):c.2003G>A (p.Arg668His) http://identifiers.org/clinvar/314231 ^@ NM_182894.2(VSX2):c.*1753C>T http://identifiers.org/clinvar/312542 ^@ NM_005708.4(GPC6):c.1033A>G (p.Lys345Glu) http://identifiers.org/clinvar/326754 ^@ NM_015559.2(SETBP1):c.3681G>A (p.Glu1227=) http://identifiers.org/clinvar/326804 ^@ NM_015559.2(SETBP1):c.*3540G>A http://identifiers.org/clinvar/327054 ^@ NM_001080467.2(MYO5B):c.2043C>T (p.Cys681=) http://identifiers.org/clinvar/327104 ^@ NM_005359.5(SMAD4):c.-333C>A http://identifiers.org/clinvar/328843 ^@ NM_004646.3(NPHS1):c.*1020C>T http://identifiers.org/clinvar/327154 ^@ NM_005359.5(SMAD4):c.*3186T>C http://identifiers.org/clinvar/327354 ^@ NM_000140.3(FECH):c.*3753_*3754insT http://identifiers.org/clinvar/327404 ^@ NM_000140.3(FECH):c.*1071C>G http://identifiers.org/clinvar/327504 ^@ NM_013435.2(RAX):c.*1746G>A http://identifiers.org/clinvar/368631 ^@ NM_002637.3(PHKA1):c.*1303T>C http://identifiers.org/clinvar/329393 ^@ NM_001022.3(RPS19):c.71+12delG http://identifiers.org/clinvar/329543 ^@ NM_206900.2(RTN2):c.*270C>T http://identifiers.org/clinvar/329643 ^@ NM_025136.3(OPA3):c.*2143_*2144delGT http://identifiers.org/clinvar/328793 ^@ NM_000285.3(PEPD):c.1291C>T (p.Arg431Cys) http://identifiers.org/clinvar/337729 ^@ NM_000214.2(JAG1):c.*856dupT http://identifiers.org/clinvar/329243 ^@ NM_181882.2(PRX):c.*152A>G http://identifiers.org/clinvar/338179 ^@ NM_006892.3(DNMT3B):c.1881C>T (p.Asp627=) http://identifiers.org/clinvar/338229 ^@ NM_003098.2(SNTA1):c.-262C>T http://identifiers.org/clinvar/338279 ^@ NM_000687.3(AHCY):c.219+7C>G http://identifiers.org/clinvar/338379 ^@ NM_005461.4(MAFB):c.*1592dupT http://identifiers.org/clinvar/338479 ^@ NM_000457.4(HNF4A):c.*2678dupT http://identifiers.org/clinvar/338729 ^@ NM_006420.2(ARFGEF2):c.*1932A>G http://identifiers.org/clinvar/329793 ^@ NM_002103.4(GYS1):c.*868A>G http://identifiers.org/clinvar/338930 ^@ NM_004738.4(VAPB):c.332C>T (p.Pro111Leu) http://identifiers.org/clinvar/329843 ^@ NM_017636.3(TRPM4):c.251G>T (p.Gly84Val) http://identifiers.org/clinvar/329893 ^@ NM_007254.3(PNKP):c.1320C>T (p.Ala440=) http://identifiers.org/clinvar/329943 ^@ NM_024729.3(MYH14):c.4570C>A (p.Arg1524=) http://identifiers.org/clinvar/330143 ^@ NM_024075.4(TSEN34):c.*865A>G http://identifiers.org/clinvar/330293 ^@ NM_000064.3(C3):c.3299T>C (p.Leu1100Pro) http://identifiers.org/clinvar/330443 ^@ NM_000208.3(INSR):c.3383G>A (p.Arg1128His) http://identifiers.org/clinvar/330493 ^@ NM_020533.2(MCOLN1):c.771C>A (p.Ser257Arg) http://identifiers.org/clinvar/337779 ^@ NM_006363.4(SEC23B):c.-301G>A http://identifiers.org/clinvar/337879 ^@ NM_000361.2(THBD):c.*41T>C http://identifiers.org/clinvar/337929 ^@ NM_198994.2(TGM6):c.1501G>A (p.Val501Met) http://identifiers.org/clinvar/338129 ^@ NM_015338.5(ASXL1):c.*548G>C http://identifiers.org/clinvar/338629 ^@ NM_030777.3(SLC2A10):c.*2018C>T http://identifiers.org/clinvar/338780 ^@ NM_020436.4(SALL4):c.559C>G (p.Arg187Gly) http://identifiers.org/clinvar/340870 ^@ NM_004782.3(SNAP29):c.*1789C>A http://identifiers.org/clinvar/341420 ^@ NM_004737.5(LARGE1):c.*796C>T http://identifiers.org/clinvar/341570 ^@ NM_153609.3(TMPRSS6):c.*546T>C http://identifiers.org/clinvar/392099 ^@ NM_000093.4(COL5A1):c.497A>G (p.His166Arg) http://identifiers.org/clinvar/378934 ^@ NM_000314.6(PTEN):c.802-17T>C http://identifiers.org/clinvar/392999 ^@ NM_004523.3(KIF11):c.77+1G>A http://identifiers.org/clinvar/380274 ^@ NM_175073.2(APTX):c.544-4C>T http://identifiers.org/clinvar/387821 ^@ NM_032634.3(PIGO):c.2287G>T (p.Val763Leu) http://identifiers.org/clinvar/380575 ^@ NM_001278503.1(STT3A):c.1464T>C (p.Ile488=) http://identifiers.org/clinvar/379134 ^@ NM_203447.3(DOCK8):c.2971-1G>A http://identifiers.org/clinvar/378226 ^@ NM_032578.3(MYPN):c.3456C>T (p.Thr1152=) http://identifiers.org/clinvar/378481 ^@ NM_015713.4(RRM2B):c.205-3C>T http://identifiers.org/clinvar/390760 ^@ NM_004519.3(KCNQ3):c.168G>C (p.Ala56=) http://identifiers.org/clinvar/392949 ^@ NM_032844.4(MASTL):c.1232T>C (p.Met411Thr) http://identifiers.org/clinvar/387621 ^@ NM_000051.3(ATM):c.2268A>G (p.Ala756=) http://identifiers.org/clinvar/378984 ^@ NM_000051.3(ATM):c.4860A>G (p.Gln1620=) http://identifiers.org/clinvar/388371 ^@ NM_030962.3(SBF2):c.620-9T>C http://identifiers.org/clinvar/388171 ^@ NM_001079802.1(FKTN):c.647+12G>A http://identifiers.org/clinvar/387521 ^@ NM_001025295.2(IFITM5):c.335C>G (p.Ala112Gly) http://identifiers.org/clinvar/392899 ^@ NM_000368.4(TSC1):c.541C>T (p.His181Tyr) http://identifiers.org/clinvar/389460 ^@ NM_006231.3(POLE):c.3795+15T>G http://identifiers.org/clinvar/387221 ^@ NM_021625.4(TRPV4):c.1857C>T (p.Leu619=) http://identifiers.org/clinvar/387871 ^@ NM_007327.3(GRIN1):c.1431C>T (p.His477=) http://identifiers.org/clinvar/379334 ^@ NM_170665.3(ATP2A2):c.1185-1G>A http://identifiers.org/clinvar/390610 ^@ NM_001376.4(DYNC1H1):c.1702C>A (p.Leu568Ile) http://identifiers.org/clinvar/380224 ^@ NM_006231.3(POLE):c.6330+19G>A http://identifiers.org/clinvar/387271 ^@ NG_017041.1:g.4994A>G http://identifiers.org/clinvar/380124 ^@ NM_012062.4(DNM1L):c.-48A>G http://identifiers.org/clinvar/390060 ^@ NM_000075.3(CDK4):c.6T>A (p.Ala2=) http://identifiers.org/clinvar/388071 ^@ NM_000059.3(BRCA2):c.1341A>G (p.Pro447=) http://identifiers.org/clinvar/393099 ^@ NM_000053.3(ATP7B):c.-676A>G http://identifiers.org/clinvar/389910 ^@ NM_013382.5(POMT2):c.1254-7C>T http://identifiers.org/clinvar/393149 ^@ NM_152722.4(HEPACAM):c.1198G>A (p.Val400Met) http://identifiers.org/clinvar/392449 ^@ NM_002474.2(MYH11):c.726+7A>G http://identifiers.org/clinvar/378582 ^@ NM_133647.1(SLC12A6):c.1269C>T (p.Tyr423=) http://identifiers.org/clinvar/390960 ^@ NM_004183.3(BEST1):c.1067G>A (p.Arg356Gln) http://identifiers.org/clinvar/380475 ^@ NM_000942.4(PPIB):c.249+19G>T http://identifiers.org/clinvar/383330 ^@ NM_030962.3(SBF2):c.4509C>T (p.His1503=) http://identifiers.org/clinvar/392049 ^@ NM_198525.2(KIF7):c.355A>G (p.Ile119Val) http://identifiers.org/clinvar/388471 ^@ NM_021098.2(CACNA1H):c.382T>G (p.Cys128Gly) http://identifiers.org/clinvar/378176 ^@ NM_139242.3(MTFMT):c.885C>T (p.Val295=) http://identifiers.org/clinvar/392249 ^@ NM_001127464.2(ZNF469):c.2700G>C (p.Pro900=) http://identifiers.org/clinvar/47497 ^@ NM_133378.4(TTN):c.82832G>A (p.Arg27611His) http://identifiers.org/clinvar/47547 ^@ NM_133378.4(TTN):c.87343A>G (p.Ser29115Gly) http://identifiers.org/clinvar/47597 ^@ NM_133378.4(TTN):c.90539G>A (p.Arg30180His) http://identifiers.org/clinvar/47647 ^@ NM_133378.4(TTN):c.94486G>A (p.Ala31496Thr) http://identifiers.org/clinvar/47697 ^@ NM_001256850.1(TTN):c.100702A>C (p.Lys33568Gln) http://identifiers.org/clinvar/47747 ^@ NM_133379.4(TTN):c.13204C>T (p.Leu4402Phe) http://identifiers.org/clinvar/47797 ^@ NM_133379.4(TTN):c.16221G>A (p.Pro5407=) http://identifiers.org/clinvar/47847 ^@ NM_133378.4(TTN):c.10303+2358C>T http://identifiers.org/clinvar/47897 ^@ NM_144573.3(NEXN):c.1788T>G (p.Ser596Arg) http://identifiers.org/clinvar/178 ^@ NM_000274.3(OAT):c.192_193delAG (p.Gly65Lysfs) http://identifiers.org/clinvar/187 ^@ NM_001385.2(DPYS):c.1235G>T (p.Arg412Met) http://identifiers.org/clinvar/196 ^@ NM_001080476.2(GRXCR1):c.412C>T (p.Arg138Cys) http://identifiers.org/clinvar/214 ^@ NM_000285.3(PEPD):c.1359_1361delGGA (p.Glu453del) http://identifiers.org/clinvar/389 ^@ CTSA, IVS8DS, C-G, +9 http://identifiers.org/clinvar/471 ^@ NM_000035.3(ALDOB):c.10C>T (p.Arg4Ter) http://identifiers.org/clinvar/480 ^@ NM_000317.2(PTS):c.259C>T (p.Pro87Ser) http://identifiers.org/clinvar/589 ^@ NM_000277.1(PAH):c.842C>T (p.Pro281Leu) http://identifiers.org/clinvar/598 ^@ NM_000277.1(PAH):c.818C>T (p.Ser273Phe) http://identifiers.org/clinvar/662 ^@ NM_000312.3(PROC):c.925G>A (p.Ala309Thr) http://identifiers.org/clinvar/811 ^@ NM_000038.5(APC):c.4393_4394delAG (p.Ser1465Trpfs) http://identifiers.org/clinvar/862 ^@ NM_013319.2(UBIAD1):c.511T>C (p.Ser171Pro) http://identifiers.org/clinvar/871 ^@ NM_001127628.1(FBP1):c.581T>C (p.Phe194Ser) http://identifiers.org/clinvar/912 ^@ CYP4F22, EX3-12DEL http://identifiers.org/clinvar/1176 ^@ NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter) http://identifiers.org/clinvar/1220 ^@ ATP13A2, 22-BP DUP http://identifiers.org/clinvar/1271 ^@ NM_024642.4(GALNT12):c.1472C>T (p.Thr491Met) http://identifiers.org/clinvar/1316 ^@ NM_001174089.1(SLC4A11):c.2480T>C (p.Leu827Pro) http://identifiers.org/clinvar/1361 ^@ NM_148960.2(CLDN19):c.59G>A (p.Gly20Asp) http://identifiers.org/clinvar/1407 ^@ NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter) http://identifiers.org/clinvar/1452 ^@ HMBS, 9-BP DEL, EX10 http://identifiers.org/clinvar/1498 ^@ nsv513791 http://identifiers.org/clinvar/1543 ^@ NM_000237.2(LPL):c.1081G>A (p.Ala361Thr) http://identifiers.org/clinvar/1589 ^@ NM_001127255.1(NLRP7):c.1294C>T (p.Arg432Ter) http://identifiers.org/clinvar/1638 ^@ NM_000382.2(ALDH3A2):c.941_943delCCCinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla) http://identifiers.org/clinvar/1683 ^@ MANBA, 2-BP DEL, 1541AT http://identifiers.org/clinvar/1729 ^@ NM_001099287.1(NIPAL4):c.433C>T (p.Arg145Ter) http://identifiers.org/clinvar/1824 ^@ NM_005767.5(LPAR6):c.463C>T (p.Gln155Ter) http://identifiers.org/clinvar/1914 ^@ NM_000411.6(HLCS):c.647T>G (p.Leu216Arg) http://identifiers.org/clinvar/2003 ^@ NM_199242.2(UNC13D):c.2570T>G (p.Phe857Cys) http://identifiers.org/clinvar/2049 ^@ NM_152443.2(RDH12):c.146C>T (p.Thr49Met) http://identifiers.org/clinvar/2094 ^@ NM_000920.3(PC):c.1828G>A (p.Ala610Thr) http://identifiers.org/clinvar/2187 ^@ NM_207352.3(CYP4V2):c.130T>A (p.Trp44Arg) http://identifiers.org/clinvar/2231 ^@ NM_000551.3(VHL):c.488T>C (p.Leu163Pro) http://identifiers.org/clinvar/2277 ^@ NM_014874.3(MFN2):c.827A>G (p.Gln276Arg) http://identifiers.org/clinvar/2322 ^@ ETHE1, IVS4DS, G-T, +1 http://identifiers.org/clinvar/2368 ^@ NM_213653.3(HFE2):c.842T>C (p.Ile281Thr) http://identifiers.org/clinvar/2413 ^@ NM_032409.2(PINK1):c.938C>T (p.Thr313Met) http://identifiers.org/clinvar/11922 ^@ NM_000203.4(IDUA):c.266G>A (p.Arg89Gln) http://identifiers.org/clinvar/12878 ^@ NM_021007.2(SCN2A):c.2674G>A (p.Val892Ile) http://identifiers.org/clinvar/12928 ^@ NM_000702.3(ATP1A2):c.1244C>T (p.Thr415Met) http://identifiers.org/clinvar/12978 ^@ NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) http://identifiers.org/clinvar/13029 ^@ NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) http://identifiers.org/clinvar/13081 ^@ NM_000321.2(RB1):c.979_1033dup55 (p.Thr345Lysfs) http://identifiers.org/clinvar/13131 ^@ NM_000536.3(RAG2):c.123C>G (p.Cys41Trp) http://identifiers.org/clinvar/13182 ^@ NM_000322.4(PRPH2):c.584G>T (p.Arg195Leu) http://identifiers.org/clinvar/13233 ^@ NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) http://identifiers.org/clinvar/13284 ^@ NM_000141.4(FGFR2):c.868T>G (p.Trp290Gly) http://identifiers.org/clinvar/13335 ^@ NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) http://identifiers.org/clinvar/13388 ^@ NM_000207.2(INS):c.71C>A (p.Ala24Asp) http://identifiers.org/clinvar/13440 ^@ NM_000371.3(TTR):c.148G>C (p.Val50Leu) http://identifiers.org/clinvar/13491 ^@ NM_000217.2(KCNA1):c.1249C>T (p.Arg417Ter) http://identifiers.org/clinvar/13541 ^@ NM_001001547.2(CD36):c.1237A>C (p.Ile413Leu) http://identifiers.org/clinvar/40367 ^@ NM_004333.4(BRAF):c.1411G>T (p.Val471Phe) http://identifiers.org/clinvar/40435 ^@ NM_005343.3(HRAS):c.175G>A (p.Ala59Thr) http://identifiers.org/clinvar/40503 ^@ NM_002834.4(PTPN11):c.228G>C (p.Glu76Asp) http://identifiers.org/clinvar/40559 ^@ NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg) http://identifiers.org/clinvar/40624 ^@ NM_002880.3(RAF1):c.1669-36C>T http://identifiers.org/clinvar/40701 ^@ NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) http://identifiers.org/clinvar/40788 ^@ NM_030662.3(MAP2K2):c.291C>G (p.Ile97Met) http://identifiers.org/clinvar/40986 ^@ NM_000084.4(CLCN5):c.834G>C (p.Leu278Phe) http://identifiers.org/clinvar/41044 ^@ NM_002734.4(PRKAR1A):c.204G>A (p.Leu68=) http://identifiers.org/clinvar/41100 ^@ NM_003611.2(OFD1):c.241C>G (p.His81Asp) http://identifiers.org/clinvar/41156 ^@ NM_003611.2(OFD1):c.936-?_1129+?del http://identifiers.org/clinvar/41208 ^@ NM_003977.3(AIP):c.805_825dup21 (p.His275_Ala276insPheLysArgGlyLysAlaHis) http://identifiers.org/clinvar/51218 ^@ NM_000059.3(BRCA2):c.1875T>A (p.Phe625Leu) http://identifiers.org/clinvar/51270 ^@ NM_000059.3(BRCA2):c.2324C>T (p.Ser775Phe) http://identifiers.org/clinvar/51321 ^@ NM_000059.3(BRCA2):c.263delT (p.Leu88Argfs) http://identifiers.org/clinvar/51371 ^@ NM_000059.3(BRCA2):c.291_296delATTAGA (p.Glu97_Leu98del) http://identifiers.org/clinvar/51421 ^@ NM_000059.3(BRCA2):c.3199delA (p.Thr1067Leufs) http://identifiers.org/clinvar/51473 ^@ NM_000059.3(BRCA2):c.3469G>T (p.Glu1157Ter) http://identifiers.org/clinvar/51524 ^@ NM_000059.3(BRCA2):c.3782C>G (p.Ser1261Cys) http://identifiers.org/clinvar/51576 ^@ NM_000059.3(BRCA2):c.3966C>G (p.Asn1322Lys) http://identifiers.org/clinvar/51628 ^@ NM_000059.3(BRCA2):c.4301A>T (p.Lys1434Ile) http://identifiers.org/clinvar/51678 ^@ NM_000059.3(BRCA2):c.4588A>T (p.Lys1530Ter) http://identifiers.org/clinvar/51730 ^@ NM_000059.3(BRCA2):c.4859T>G (p.Leu1620Ter) http://identifiers.org/clinvar/51782 ^@ NM_000059.3(BRCA2):c.5159C>G (p.Ser1720Ter) http://identifiers.org/clinvar/51833 ^@ NM_000059.3(BRCA2):c.5279C>G (p.Ser1760Ter) http://identifiers.org/clinvar/51886 ^@ NM_000059.3(BRCA2):c.5592_5593delCA (p.Phe1866Tyrfs) http://identifiers.org/clinvar/51938 ^@ NM_000059.3(BRCA2):c.5789delT (p.Leu1930Tyrfs) http://identifiers.org/clinvar/51990 ^@ NM_000059.3(BRCA2):c.6025C>T (p.Gln2009Ter) http://identifiers.org/clinvar/52041 ^@ NM_000059.3(BRCA2):c.6240dupA (p.Glu2081Argfs) http://identifiers.org/clinvar/52094 ^@ NM_000059.3(BRCA2):c.6434A>G (p.Asn2145Ser) http://identifiers.org/clinvar/52146 ^@ NM_000059.3(BRCA2):c.6644dupA (p.Tyr2215Terfs) http://identifiers.org/clinvar/52196 ^@ NM_000059.3(BRCA2):c.6814delA (p.Arg2272Glufs) http://identifiers.org/clinvar/52247 ^@ NM_000059.3(BRCA2):c.7008-62A>G http://identifiers.org/clinvar/52298 ^@ NM_000059.3(BRCA2):c.7251_7252delCA (p.His2417Glnfs) http://identifiers.org/clinvar/52348 ^@ NM_000059.3(BRCA2):c.7525_7526insT (p.Ser2509Metfs) http://identifiers.org/clinvar/52399 ^@ NM_000059.3(BRCA2):c.7751delG (p.Gly2584Valfs) http://identifiers.org/clinvar/52449 ^@ NM_000059.3(BRCA2):c.7963delC (p.Gln2655Asnfs) http://identifiers.org/clinvar/52499 ^@ NM_000059.3(BRCA2):c.8084C>G (p.Ser2695Ter) http://identifiers.org/clinvar/52550 ^@ NM_000059.3(BRCA2):c.8331+1G>T http://identifiers.org/clinvar/52600 ^@ NM_000059.3(BRCA2):c.8485C>T (p.Gln2829Ter) http://identifiers.org/clinvar/52652 ^@ NM_000059.3(BRCA2):c.8663G>C (p.Arg2888Pro) http://identifiers.org/clinvar/53301 ^@ NM_000492.3(CFTR):c.1635_1640delAATCAC (p.Ile546_Thr547del) http://identifiers.org/clinvar/53351 ^@ NM_000492.3(CFTR):c.1705T>C (p.Tyr569His) http://identifiers.org/clinvar/53401 ^@ NM_000492.3(CFTR):c.1837G>A (p.Ala613Thr) http://identifiers.org/clinvar/53453 ^@ NM_000492.3(CFTR):c.2204G>A (p.Arg735Lys) http://identifiers.org/clinvar/53506 ^@ NM_000492.3(CFTR):c.2508delT (p.Asp836Glufs) http://identifiers.org/clinvar/53556 ^@ NM_000492.3(CFTR):c.274-2A>G http://identifiers.org/clinvar/53606 ^@ NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) http://identifiers.org/clinvar/53658 ^@ NM_000492.3(CFTR):c.3139+1G>T http://identifiers.org/clinvar/53709 ^@ NM_000492.3(CFTR):c.3294G>C (p.Trp1098Cys) http://identifiers.org/clinvar/53759 ^@ NM_000492.3(CFTR):c.3485_3486delGA (p.Val1163Leufs) http://identifiers.org/clinvar/53812 ^@ NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) http://identifiers.org/clinvar/53864 ^@ NM_000492.3(CFTR):c.3964-3C>G http://identifiers.org/clinvar/53915 ^@ NM_000492.3(CFTR):c.4196_4197delTC (p.Cys1400Terfs) http://identifiers.org/clinvar/53965 ^@ NM_000492.3(CFTR):c.481T>G (p.Tyr161Asp) http://identifiers.org/clinvar/54015 ^@ NM_000492.3(CFTR):c.580-92T>A http://identifiers.org/clinvar/54065 ^@ NM_000492.3(CFTR):c.829T>A (p.Trp277Arg) http://identifiers.org/clinvar/54117 ^@ NM_007294.3(BRCA1):c.1072delC (p.Leu358Cysfs) http://identifiers.org/clinvar/54167 ^@ NM_007294.3(BRCA1):c.122delA (p.His41Profs) http://identifiers.org/clinvar/54217 ^@ NM_007294.3(BRCA1):c.1352C>A (p.Ser451Ter) http://identifiers.org/clinvar/54267 ^@ NM_007294.3(BRCA1):c.1486C>A (p.Arg496Ser) http://identifiers.org/clinvar/54318 ^@ NM_007294.3(BRCA1):c.1649delA (p.Asn550Ilefs) http://identifiers.org/clinvar/54369 ^@ NM_007294.3(BRCA1):c.1840A>T (p.Lys614Ter) http://identifiers.org/clinvar/54419 ^@ NM_007294.3(BRCA1):c.1963_1964insG (p.Tyr655Terfs) http://identifiers.org/clinvar/54469 ^@ NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709Tyrfs) http://identifiers.org/clinvar/54519 ^@ NM_007294.3(BRCA1):c.2275C>T (p.Gln759Ter) http://identifiers.org/clinvar/54569 ^@ NM_007294.3(BRCA1):c.2434A>T (p.Lys812Ter) http://identifiers.org/clinvar/54619 ^@ NM_007294.3(BRCA1):c.2612_2613insT (p.Phe872Valfs) http://identifiers.org/clinvar/54669 ^@ NM_007294.3(BRCA1):c.2745dupT (p.Asn916Terfs) http://identifiers.org/clinvar/56138 ^@ NM_000274.3(OAT):c.952G>A (p.Glu318Lys) http://identifiers.org/clinvar/56189 ^@ NM_000310.3(PPT1):c.310A>T (p.Lys104Ter) http://identifiers.org/clinvar/56239 ^@ NM_000481.3(AMT):c.887G>A (p.Arg296His) http://identifiers.org/clinvar/56290 ^@ NM_001042432.1(CLN3):c.883G>T (p.Glu295Ter) http://identifiers.org/clinvar/56342 ^@ NM_001081.3(CUBN):c.673T>A (p.Cys225Ser) http://identifiers.org/clinvar/56393 ^@ NM_002299.3(LCT):c.653_654delCT (p.Ser218Cysfs) http://identifiers.org/clinvar/56444 ^@ NM_004646.3(NPHS1):c.1672C>T (p.Arg558Cys) http://identifiers.org/clinvar/56494 ^@ NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) http://identifiers.org/clinvar/56545 ^@ NM_006493.2(CLN5):c.772T>G (p.Tyr258Asp) http://identifiers.org/clinvar/56598 ^@ NM_017739.3(POMGNT1):c.351delC (p.Thr118Argfs) http://identifiers.org/clinvar/56653 ^@ NM_017890.4(VPS13B):c.2651-1G>A http://identifiers.org/clinvar/56703 ^@ NM_018941.3(CLN8):c.180_182delGAA (p.Lys61del) http://identifiers.org/clinvar/56753 ^@ NM_030943.3(AMN):c.43+1G>T http://identifiers.org/clinvar/56830 ^@ NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) http://identifiers.org/clinvar/57013 ^@ GRCh38/hg38 Xq21.1(chrX:77914709-78039013)x0 http://identifiers.org/clinvar/57066 ^@ GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 http://identifiers.org/clinvar/57122 ^@ GRCh38/hg38 3p26.3(chr3:1450978-2754945)x3 http://identifiers.org/clinvar/57173 ^@ GRCh38/hg38 Yp11.2-q11.223(chrY:2788370-20525326)x2 http://identifiers.org/clinvar/57225 ^@ GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 http://identifiers.org/clinvar/57278 ^@ GRCh38/hg38 16p13.3(chr16:165725-180586)x1 http://identifiers.org/clinvar/57331 ^@ GRCh38/hg38 7q33(chr7:133385456-134378422)x3 http://identifiers.org/clinvar/57384 ^@ GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1 http://identifiers.org/clinvar/101201 ^@ NM_000090.3(COL3A1):c.3093+2T>C (p.Gly1014_Lys1031del) http://identifiers.org/clinvar/101251 ^@ NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val) http://identifiers.org/clinvar/101301 ^@ NM_000090.3(COL3A1):c.2051G>T (p.Gly684Val) http://identifiers.org/clinvar/101351 ^@ NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) http://identifiers.org/clinvar/101401 ^@ NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val) http://identifiers.org/clinvar/101451 ^@ NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) http://identifiers.org/clinvar/101503 ^@ NM_014740.3(EIF4A3):c.809A>G (p.Asp270Gly) http://identifiers.org/clinvar/127127 ^@ NM_007294.3(BRCA1):c.5074+284C>A http://identifiers.org/clinvar/127233 ^@ NM_198903.2(GABRG2):c.247C>T (p.Pro83Ser) http://identifiers.org/clinvar/127287 ^@ NM_000038.5(APC):c.3368A>C (p.Gln1123Pro) http://identifiers.org/clinvar/127337 ^@ NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) http://identifiers.org/clinvar/127387 ^@ NM_000051.3(ATM):c.4375G>A (p.Gly1459Arg) http://identifiers.org/clinvar/127437 ^@ NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) http://identifiers.org/clinvar/127488 ^@ NM_000057.3(BLM):c.254G>C (p.Arg85Thr) http://identifiers.org/clinvar/127538 ^@ NM_000136.2(FANCC):c.29G>A (p.Cys10Tyr) http://identifiers.org/clinvar/127588 ^@ NM_000179.2(MSH6):c.3647-6T>A http://identifiers.org/clinvar/127639 ^@ NM_000251.2(MSH2):c.2786G>A (p.Arg929Gln) http://identifiers.org/clinvar/127698 ^@ NM_000455.4(STK11):c.1127A>C (p.Glu376Ala) http://identifiers.org/clinvar/127748 ^@ NM_000465.3(BARD1):c.79G>C (p.Glu27Gln) http://identifiers.org/clinvar/127799 ^@ NM_000535.6(PMS2):c.880C>T (p.Arg294Trp) http://identifiers.org/clinvar/159477 ^@ NM_002547.2(OPHN1):c.496C>T (p.Gln166Ter) http://identifiers.org/clinvar/160797 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 http://identifiers.org/clinvar/160900 ^@ GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 http://identifiers.org/clinvar/160952 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 http://identifiers.org/clinvar/161385 ^@ NM_003000.2(SDHB):c.716C>G (p.Ser239Cys) http://identifiers.org/clinvar/161335 ^@ NM_000312.3(PROC):c.322C>A (p.His108Asn) http://identifiers.org/clinvar/161454 ^@ NM_005101.3(ISG15):c.379G>T (p.Glu127Ter) http://identifiers.org/clinvar/161854 ^@ NM_198930.3(PYHIN1):c.575G>A (p.Arg192His) http://identifiers.org/clinvar/161504 ^@ NM_001040105.1(MUC17):c.8950G>A (p.Glu2984Lys) http://identifiers.org/clinvar/161754 ^@ NM_022045.4(MTBP):c.2380A>G (p.Ile794Val) http://identifiers.org/clinvar/161804 ^@ NM_138778.4(DPH7):c.932A>G (p.Asn311Ser) http://identifiers.org/clinvar/161654 ^@ NM_007039.3(PTPN21):c.94A>C (p.Asn32His) http://identifiers.org/clinvar/161704 ^@ NM_016835.4(MAPT):c.69G>C (p.Arg23Ser) http://identifiers.org/clinvar/161604 ^@ NM_002974.3(SERPINB4):c.476T>A (p.Ile159Asn) http://identifiers.org/clinvar/161554 ^@ NM_001184774.1(SEZ6L):c.778G>T (p.Glu260Ter) http://identifiers.org/clinvar/162033 ^@ NM_001376.4(DYNC1H1):c.791G>T (p.Arg264Leu) http://identifiers.org/clinvar/162088 ^@ NM_176824.2(BBS7):c.1967_1968delTAinsC (p.Leu656Profs) http://identifiers.org/clinvar/162153 ^@ NM_001396.3(DYRK1A):c.613C>T (p.Arg205Ter) http://identifiers.org/clinvar/162216 ^@ NM_198271.4(LMOD3):c.1103_1105delACA (p.Asn368del) http://identifiers.org/clinvar/162417 ^@ NM_170707.3(LMNA):c.1968+5G>A http://identifiers.org/clinvar/162498 ^@ NM_000118.3(ENG):c.1273-2A>G http://identifiers.org/clinvar/162572 ^@ NM_002206.2(ITGA7):c.2357+1G>A http://identifiers.org/clinvar/165709 ^@ NM_133378.4(TTN):c.87853C>T (p.Arg29285Cys) http://identifiers.org/clinvar/166024 ^@ NM_001256850.1(TTN):c.43055C>A (p.Thr14352Asn) http://identifiers.org/clinvar/166517 ^@ NM_206933.2(USH2A):c.2510G>A (p.Arg837Gln) http://identifiers.org/clinvar/165867 ^@ NM_133378.4(TTN):c.60950C>T (p.Ser20317Leu) http://identifiers.org/clinvar/163492 ^@ NM_201557.3(FHL2):c.174C>T (p.Asp58=) http://identifiers.org/clinvar/165960 ^@ NM_133378.4(TTN):c.49084A>G (p.Arg16362Gly) http://identifiers.org/clinvar/166164 ^@ NM_133378.4(TTN):c.19297G>A (p.Gly6433Arg) http://identifiers.org/clinvar/178973 ^@ NM_133378.4(TTN):c.17271A>G (p.Lys5757=) http://identifiers.org/clinvar/166266 ^@ NM_133378.4(TTN):c.10360+3703A>G http://identifiers.org/clinvar/166316 ^@ NM_133378.4(TTN):c.5198C>T (p.Thr1733Met) http://identifiers.org/clinvar/163134 ^@ NM_001369.2(DNAH5):c.13194_13197delCAGA (p.Asp4398Glufs) http://identifiers.org/clinvar/165451 ^@ NM_024334.2(TMEM43):c.323T>C (p.Val108Ala) http://identifiers.org/clinvar/165155 ^@ NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) http://identifiers.org/clinvar/164732 ^@ NM_016599.4(MYOZ2):c.768C>A (p.Thr256=) http://identifiers.org/clinvar/166604 ^@ NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg) http://identifiers.org/clinvar/178722 ^@ NM_001277115.1(DNAH11):c.939C>T (p.Ser313=) http://identifiers.org/clinvar/165576 ^@ NM_001128228.2(TPRN):c.2057C>T (p.Pro686Leu) http://identifiers.org/clinvar/163290 ^@ NM_004415.3(DSP):c.8415C>T (p.Ala2805=) http://identifiers.org/clinvar/163593 ^@ NM_032119.3(ADGRV1):c.10066A>G (p.Ile3356Val) http://identifiers.org/clinvar/198420 ^@ NM_000392.4(ABCC2):c.867+8T>C http://identifiers.org/clinvar/198470 ^@ NM_001814.5(CTSC):c.1357A>G (p.Ile453Val) http://identifiers.org/clinvar/198524 ^@ NM_004937.2(CTNS):c.356G>A (p.Arg119His) http://identifiers.org/clinvar/198575 ^@ NM_018451.4(CENPJ):c.2457T>C (p.Tyr819=) http://identifiers.org/clinvar/198627 ^@ NM_173660.4(DOK7):c.918C>T (p.Ala306=) http://identifiers.org/clinvar/198678 ^@ NM_033071.3(SYNE1):c.14792T>C (p.Phe4931Ser) http://identifiers.org/clinvar/198732 ^@ NM_000455.4(STK11):c.1069G>A (p.Glu357Lys) http://identifiers.org/clinvar/198785 ^@ NM_003491.3(NAA10):c.616G>A (p.Gly206Ser) http://identifiers.org/clinvar/198838 ^@ NM_006017.2(PROM1):c.879C>T (p.Ser293=) http://identifiers.org/clinvar/201189 ^@ NM_001035.2(RYR2):c.218T>G (p.Leu73Arg) http://identifiers.org/clinvar/201245 ^@ NM_001035.2(RYR2):c.4361A>G (p.Asp1454Gly) http://identifiers.org/clinvar/201299 ^@ NM_001035.2(RYR2):c.10043T>G (p.Met3348Arg) http://identifiers.org/clinvar/201356 ^@ NM_001035.2(RYR2):c.14288A>G (p.Asn4763Ser) http://identifiers.org/clinvar/201526 ^@ NM_198056.2(SCN5A):c.5027T>C (p.Met1676Thr) http://identifiers.org/clinvar/201583 ^@ NM_198056.2(SCN5A):c.3121G>A (p.Asp1041Asn) http://identifiers.org/clinvar/201467 ^@ NM_198056.2(SCN5A):c.1993G>T (p.Ala665Ser) http://identifiers.org/clinvar/201413 ^@ NM_198056.2(SCN5A):c.612-196G>A http://identifiers.org/clinvar/201639 ^@ NM_001103.3(ACTN2):c.1348G>T (p.Asp450Tyr) http://identifiers.org/clinvar/201914 ^@ NM_144573.3(NEXN):c.62C>T (p.Thr21Ile) http://identifiers.org/clinvar/202086 ^@ NM_000337.5(SGCD):c.116T>C (p.Val39Ala) http://identifiers.org/clinvar/201859 ^@ NM_007078.2(LDB3):c.1166_1167delCCinsGG (p.Ala389Gly) http://identifiers.org/clinvar/201695 ^@ NM_003476.4(CSRP3):c.544G>C (p.Gly182Arg) http://identifiers.org/clinvar/201967 ^@ NM_004572.3(PKP2):c.2531T>C (p.Leu844Pro) http://identifiers.org/clinvar/202028 ^@ NM_004572.3(PKP2):c.761A>C (p.Asn254Thr) http://identifiers.org/clinvar/202142 ^@ NM_003276.2(TMPO):c.1849A>T (p.Ile617Phe) http://identifiers.org/clinvar/201805 ^@ NM_002230.2(JUP):c.2122G>A (p.Asp708Asn) http://identifiers.org/clinvar/201750 ^@ NM_004006.2(DMD):c.5230A>G (p.Asn1744Asp) http://identifiers.org/clinvar/202197 ^@ NM_152743.3(BRAT1):c.1857G>A (p.Trp619Ter) http://identifiers.org/clinvar/202426 ^@ NM_001256850.1(TTN):c.91387+2T>G http://identifiers.org/clinvar/202482 ^@ NM_001256850.1(TTN):c.81464_81468delGTACT (p.Arg27155Glnfs) http://identifiers.org/clinvar/202320 ^@ NM_001256850.1(TTN):c.62195T>A (p.Val20732Asp) http://identifiers.org/clinvar/230719 ^@ NM_000038.5(APC):c.4310A>G (p.Lys1437Arg) http://identifiers.org/clinvar/233259 ^@ NM_000038.5(APC):c.5866A>T (p.Ile1956Phe) http://identifiers.org/clinvar/230069 ^@ NM_005732.3(RAD50):c.1368G>A (p.Glu456=) http://identifiers.org/clinvar/229869 ^@ NM_005732.3(RAD50):c.1556G>A (p.Arg519His) http://identifiers.org/clinvar/232508 ^@ NM_005732.3(RAD50):c.3275T>G (p.Leu1092Arg) http://identifiers.org/clinvar/233159 ^@ NM_005732.3(RAD50):c.3315A>G (p.Arg1105=) http://identifiers.org/clinvar/231908 ^@ NM_000535.6(PMS2):c.1041G>A (p.Glu347=) http://identifiers.org/clinvar/232709 ^@ NM_000535.6(PMS2):c.537+3A>G http://identifiers.org/clinvar/229769 ^@ NM_002485.4(NBN):c.37+2dupT http://identifiers.org/clinvar/231958 ^@ NM_020975.4(RET):c.2719A>C (p.Lys907Gln) http://identifiers.org/clinvar/230819 ^@ NM_000314.6(PTEN):c.913A>G (p.Ser305Gly) http://identifiers.org/clinvar/232809 ^@ NM_000051.3(ATM):c.4650G>T (p.Lys1550Asn) http://identifiers.org/clinvar/233609 ^@ NM_000051.3(ATM):c.4801A>G (p.Ser1601Gly) http://identifiers.org/clinvar/233059 ^@ NM_000051.3(ATM):c.6301C>G (p.Gln2101Glu) http://identifiers.org/clinvar/230219 ^@ NM_000051.3(ATM):c.7630-3C>T http://identifiers.org/clinvar/232558 ^@ NM_000051.3(ATM):c.8178T>C (p.Ala2726=) http://identifiers.org/clinvar/230319 ^@ NM_003002.3(SDHD):c.180G>T (p.Lys60Asn) http://identifiers.org/clinvar/230519 ^@ NM_005591.3(MRE11):c.83A>C (p.Lys28Thr) http://identifiers.org/clinvar/230919 ^@ NM_000059.3(BRCA2):c.294A>T (p.Leu98Phe) http://identifiers.org/clinvar/230569 ^@ NM_000059.3(BRCA2):c.1092T>C (p.Asp364=) http://identifiers.org/clinvar/231069 ^@ NM_000059.3(BRCA2):c.3808G>A (p.Val1270Ile) http://identifiers.org/clinvar/232208 ^@ NM_000059.3(BRCA2):c.4443G>A (p.Glu1481=) http://identifiers.org/clinvar/230969 ^@ NM_000059.3(BRCA2):c.6195A>C (p.Gln2065His) http://identifiers.org/clinvar/233659 ^@ NM_000548.4(TSC2):c.2255G>A (p.Gly752Asp) http://identifiers.org/clinvar/230769 ^@ NM_000548.4(TSC2):c.3794_3796delCTC (p.Pro1265del) http://identifiers.org/clinvar/230169 ^@ NM_024675.3(PALB2):c.3488A>T (p.Lys1163Ile) http://identifiers.org/clinvar/232158 ^@ NM_004360.4(CDH1):c.66C>T (p.Cys22=) http://identifiers.org/clinvar/230669 ^@ NM_004360.4(CDH1):c.76G>C (p.Glu26Gln) http://identifiers.org/clinvar/232959 ^@ NM_001042492.2(NF1):c.467G>T (p.Arg156Leu) http://identifiers.org/clinvar/232458 ^@ NM_001042492.2(NF1):c.2795T>C (p.Met932Thr) http://identifiers.org/clinvar/231169 ^@ NM_001042492.2(NF1):c.3113+2T>G http://identifiers.org/clinvar/229919 ^@ NM_001042492.2(NF1):c.4018C>T (p.Leu1340Phe) http://identifiers.org/clinvar/232909 ^@ NM_001042492.2(NF1):c.4670C>G (p.Thr1557Arg) http://identifiers.org/clinvar/230019 ^@ NM_001042492.2(NF1):c.7510C>G (p.Leu2504Val) http://identifiers.org/clinvar/230419 ^@ NM_001042492.2(NF1):c.8080T>C (p.Ser2694Pro) http://identifiers.org/clinvar/233009 ^@ NM_007294.3(BRCA1):c.4268G>T (p.Ser1423Ile) http://identifiers.org/clinvar/232408 ^@ NM_007294.3(BRCA1):c.3659A>T (p.Asp1220Val) http://identifiers.org/clinvar/232759 ^@ NM_007294.3(BRCA1):c.3031G>A (p.Glu1011Lys) http://identifiers.org/clinvar/232058 ^@ NM_007294.3(BRCA1):c.344C>T (p.Pro115Leu) http://identifiers.org/clinvar/232859 ^@ NM_058216.2(RAD51C):c.315A>G (p.Ser105=) http://identifiers.org/clinvar/232358 ^@ NM_058216.2(RAD51C):c.489T>A (p.Ser163Arg) http://identifiers.org/clinvar/232308 ^@ NM_032043.2(BRIP1):c.1129A>G (p.Ile377Val) http://identifiers.org/clinvar/230369 ^@ NM_032043.2(BRIP1):c.889A>C (p.Lys297Gln) http://identifiers.org/clinvar/230269 ^@ NM_000546.5(TP53):c.1120G>C (p.Gly374Arg) http://identifiers.org/clinvar/232659 ^@ NM_000546.5(TP53):c.994-1G>C http://identifiers.org/clinvar/230469 ^@ NM_000455.4(STK11):c.291-2A>G http://identifiers.org/clinvar/229969 ^@ NM_000455.4(STK11):c.1089T>C (p.Thr363=) http://identifiers.org/clinvar/233209 ^@ NM_007194.3(CHEK2):c.695G>A (p.Gly232Glu) http://identifiers.org/clinvar/232258 ^@ NM_007194.3(CHEK2):c.505T>A (p.Phe169Ile) http://identifiers.org/clinvar/234975 ^@ NM_005751.4(AKAP9):c.10118C>G (p.Ser3373Cys) http://identifiers.org/clinvar/235026 ^@ NM_000257.3(MYH7):c.1358G>T (p.Arg453Leu) http://identifiers.org/clinvar/235076 ^@ NM_005270.4(GLI2):c.790C>T (p.Arg264Ter) http://identifiers.org/clinvar/235211 ^@ NM_002894.2(RBBP8):c.1771C>T (p.Arg591Cys) http://identifiers.org/clinvar/235265 ^@ NM_152743.3(BRAT1):c.866G>C (p.Cys289Ser) http://identifiers.org/clinvar/235319 ^@ NM_033517.1(SHANK3):c.1803G>A (p.Thr601=) http://identifiers.org/clinvar/235372 ^@ NM_001029882.3(AHDC1):c.1235G>A (p.Arg412His) http://identifiers.org/clinvar/235425 ^@ NM_001310338.1(MGME1):c.839C>T (p.Thr280Ile) http://identifiers.org/clinvar/235480 ^@ NM_001297590.1(CD3EAP):c.850A>G (p.Thr284Ala) http://identifiers.org/clinvar/235533 ^@ NM_001037633.1(SIL1):c.1232G>A (p.Arg411His) http://identifiers.org/clinvar/235584 ^@ NM_001161766.1(AHCY):c.190A>G (p.Ile64Val) http://identifiers.org/clinvar/235634 ^@ NM_006702.4(PNPLA6):c.3964G>A (p.Gly1322Ser) http://identifiers.org/clinvar/235688 ^@ NM_199242.2(UNC13D):c.2761C>T (p.Arg921Cys) http://identifiers.org/clinvar/235751 ^@ NM_001039590.2(USP9X):c.640C>G (p.Pro214Ala) http://identifiers.org/clinvar/235824 ^@ NM_001567.3(INPPL1):c.768_769delAG (p.Glu258Alafs) http://identifiers.org/clinvar/235896 ^@ NM_001127493.1(ANK2):c.4764delT (p.Gln1589Lysfs) http://identifiers.org/clinvar/236058 ^@ NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) http://identifiers.org/clinvar/236108 ^@ NM_000350.2(ABCA4):c.4140G>A (p.Pro1380=) http://identifiers.org/clinvar/236158 ^@ NM_004621.5(TRPC6):c.2460A>G (p.Ser820=) http://identifiers.org/clinvar/240688 ^@ NM_006594.4(AP4B1):c.217T>A (p.Cys73Ser) http://identifiers.org/clinvar/238344 ^@ NM_001128425.1(MUTYH):c.31C>G (p.Leu11Val) http://identifiers.org/clinvar/238694 ^@ NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val) http://identifiers.org/clinvar/238844 ^@ NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) http://identifiers.org/clinvar/238794 ^@ NM_001267550.2(TTN):c.50905G>C (p.Gly16969Arg) http://identifiers.org/clinvar/238744 ^@ NM_001267550.2(TTN):c.33657G>A (p.Pro11219=) http://identifiers.org/clinvar/237744 ^@ NM_000384.2(APOB):c.3427C>T (p.Pro1143Ser) http://identifiers.org/clinvar/237844 ^@ NM_000465.3(BARD1):c.82C>G (p.Pro28Ala) http://identifiers.org/clinvar/239837 ^@ NM_004304.4(ALK):c.4518G>A (p.Thr1506=) http://identifiers.org/clinvar/237142 ^@ NM_000179.2(MSH6):c.1649C>G (p.Ser550Cys) http://identifiers.org/clinvar/237192 ^@ NM_000179.2(MSH6):c.3445T>A (p.Leu1149Ile) http://identifiers.org/clinvar/238594 ^@ NM_001148.4(ANK2):c.9279C>G (p.Thr3093=) http://identifiers.org/clinvar/239587 ^@ NM_003924.3(PHOX2B):c.234C>T (p.Tyr78=) http://identifiers.org/clinvar/240338 ^@ NM_006206.4(PDGFRA):c.2989G>A (p.Glu997Lys) http://identifiers.org/clinvar/237243 ^@ NM_000222.2(KIT):c.1464G>A (p.Thr488=) http://identifiers.org/clinvar/240238 ^@ NM_005732.3(RAD50):c.3489_3495delAGAAATA (p.Glu1164Glyfs) http://identifiers.org/clinvar/239687 ^@ NM_004168.3(SDHA):c.92G>A (p.Arg31Gln) http://identifiers.org/clinvar/239637 ^@ NM_004168.3(SDHA):c.1182C>T (p.Asp394=) http://identifiers.org/clinvar/238644 ^@ NM_001206927.1(DNAH8):c.3849G>A (p.Glu1283=) http://identifiers.org/clinvar/238894 ^@ NM_001277115.1(DNAH11):c.12671C>A (p.Thr4224Asn) http://identifiers.org/clinvar/237894 ^@ NM_000535.6(PMS2):c.1796A>T (p.Asp599Val) http://identifiers.org/clinvar/261797 ^@ NM_025074.6(FRAS1):c.10683A>T (p.Glu3561Asp) http://identifiers.org/clinvar/257997 ^@ NM_001369.2(DNAH5):c.12690C>T (p.Asp4230=) http://identifiers.org/clinvar/258047 ^@ NM_001369.2(DNAH5):c.558C>T (p.Leu186=) http://identifiers.org/clinvar/263036 ^@ NM_182925.4(FLT4):c.2299+13G>C http://identifiers.org/clinvar/255408 ^@ NM_000163.4(GHR):c.785-9G>A http://identifiers.org/clinvar/256358 ^@ NM_000521.3(HEXB):c.445+1G>C http://identifiers.org/clinvar/256058 ^@ NM_000426.3(LAMA2):c.2736G>A (p.Ala912=) http://identifiers.org/clinvar/262197 ^@ NM_033071.3(SYNE1):c.4809+26_4809+28delCTA http://identifiers.org/clinvar/258347 ^@ NM_001851.4(COL9A1):c.166+12T>C http://identifiers.org/clinvar/256258 ^@ NM_000492.3(CFTR):c.927C>T (p.Ala309=) http://identifiers.org/clinvar/258147 ^@ NM_001458.4(FLNC):c.5374G>A (p.Ala1792Thr) http://identifiers.org/clinvar/257897 ^@ NM_001277115.1(DNAH11):c.4491G>A (p.Glu1497=) http://identifiers.org/clinvar/257847 ^@ NM_001277115.1(DNAH11):c.10692-7C>T http://identifiers.org/clinvar/256158 ^@ NM_000443.3(ABCB4):c.175C>T (p.Leu59=) http://identifiers.org/clinvar/263136 ^@ NM_198488.3(FAM83H):c.3059G>A (p.Arg1020Gln) http://identifiers.org/clinvar/262097 ^@ NM_032634.3(PIGO):c.3114C>T (p.Leu1038=) http://identifiers.org/clinvar/255458 ^@ NM_000170.2(GLDC):c.498T>C (p.Pro166=) http://identifiers.org/clinvar/255508 ^@ NM_000197.1(HSD17B3):c.154+30dupT http://identifiers.org/clinvar/262836 ^@ NM_173551.4(ANKS6):c.*17C>A http://identifiers.org/clinvar/262147 ^@ NM_033056.3(PCDH15):c.2751+37C>T http://identifiers.org/clinvar/256108 ^@ NM_000429.2(MAT1A):c.92-9C>G http://identifiers.org/clinvar/262986 ^@ NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) http://identifiers.org/clinvar/263286 ^@ NM_207122.1(EXT2):c.1174-18G>T http://identifiers.org/clinvar/257597 ^@ NM_001173991.2(TMEM216):c.35-17C>T http://identifiers.org/clinvar/261747 ^@ NM_024649.4(BBS1):c.1413C>T (p.Leu471=) http://identifiers.org/clinvar/261697 ^@ NM_024312.4(GNPTAB):c.630C>T (p.Gly210=) http://identifiers.org/clinvar/262247 ^@ NM_052845.3(MMAB):c.57C>A (p.Arg19=) http://identifiers.org/clinvar/257397 ^@ NM_001082538.2(TCTN1):c.-8C>T http://identifiers.org/clinvar/258197 ^@ NM_001843.3(CNTN1):c.2785G>A (p.Val929Ile) http://identifiers.org/clinvar/257147 ^@ NM_001025356.2(ANO6):c.748-7G>A http://identifiers.org/clinvar/255758 ^@ NM_000289.5(PFKM):c.2334T>G (p.Ala778=) http://identifiers.org/clinvar/257547 ^@ NM_001131025.1(PEX5):c.1718+13A>G http://identifiers.org/clinvar/261847 ^@ NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) http://identifiers.org/clinvar/258247 ^@ NM_001845.5(COL4A1):c.1663C= (p.Pro555=) http://identifiers.org/clinvar/256308 ^@ NM_000504.3(F10):c.792C>T (p.Thr264=) http://identifiers.org/clinvar/258847 ^@ NM_002863.4(PYGL):c.772+16G>T http://identifiers.org/clinvar/257097 ^@ NM_001024858.2(SPTB):c.1269G>A (p.Leu423=) http://identifiers.org/clinvar/255158 ^@ NM_000119.2(EPB42):c.984C>T (p.Thr328=) http://identifiers.org/clinvar/255308 ^@ NM_000138.4(FBN1):c.6617-21A>T http://identifiers.org/clinvar/334994 ^@ NM_000751.2(CHRND):c.*1032C>T http://identifiers.org/clinvar/335044 ^@ NM_002242.4(KCNJ13):c.*371T>C http://identifiers.org/clinvar/336083 ^@ NM_022437.2(ABCG8):c.1506G>A (p.Pro502=) http://identifiers.org/clinvar/333842 ^@ NM_014929.3(FASTKD2):c.*2331C>T http://identifiers.org/clinvar/336990 ^@ NM_003124.4(SPR):c.369C>T (p.Tyr123=) http://identifiers.org/clinvar/334143 ^@ NM_000384.2(APOB):c.4421A>G (p.Lys1474Arg) http://identifiers.org/clinvar/333942 ^@ NM_015040.3(PIKFYVE):c.*209G>C http://identifiers.org/clinvar/337390 ^@ NM_004836.6(EIF2AK3):c.*870_*875delATGTTT http://identifiers.org/clinvar/333992 ^@ NM_001608.3(ACADL):c.939T>C (p.Tyr313=) http://identifiers.org/clinvar/334344 ^@ NM_015488.4(PNKD):c.*992C>G http://identifiers.org/clinvar/334194 ^@ NM_000465.3(BARD1):c.1403C>G (p.Ala468Gly) http://identifiers.org/clinvar/337590 ^@ NM_020184.3(CNNM4):c.1942C>T (p.Pro648Ser) http://identifiers.org/clinvar/334244 ^@ NM_173076.2(ABCA12):c.4282G>A (p.Val1428Ile) http://identifiers.org/clinvar/334294 ^@ NM_014140.3(SMARCAL1):c.1147+8G>A http://identifiers.org/clinvar/337640 ^@ NM_001079.3(ZAP70):c.*29G>A http://identifiers.org/clinvar/342370 ^@ NM_033084.4(FANCD2):c.2613A>C (p.Lys871Asn) http://identifiers.org/clinvar/334644 ^@ NM_000092.4(COL4A4):c.*4322C>T http://identifiers.org/clinvar/337090 ^@ NM_004082.4(DCTN1):c.1129A>C (p.Met377Leu) http://identifiers.org/clinvar/342470 ^@ NM_000551.3(VHL):c.*2545delT http://identifiers.org/clinvar/334844 ^@ NM_025243.3(SLC19A3):c.*1815A>C http://identifiers.org/clinvar/334694 ^@ NM_000092.4(COL4A4):c.*321A>G http://identifiers.org/clinvar/337440 ^@ NM_144563.2(RPIA):c.*531T>G http://identifiers.org/clinvar/337490 ^@ NM_017849.3(TMEM127):c.*980G>A http://identifiers.org/clinvar/337540 ^@ NM_014014.4(SNRNP200):c.4678A>G (p.Ile1560Val) http://identifiers.org/clinvar/334894 ^@ NM_004509.3(SP110):c.1856T>G (p.Leu619Trp) http://identifiers.org/clinvar/342320 ^@ NM_016247.3(IMPG2):c.*444G>A http://identifiers.org/clinvar/334944 ^@ NM_152383.4(DIS3L2):c.2151C>T (p.Ala717=) http://identifiers.org/clinvar/342570 ^@ NM_198196.2(CD96):c.*1196G>C http://identifiers.org/clinvar/342620 ^@ NM_020754.3(ARHGAP31):c.-194G>A http://identifiers.org/clinvar/342670 ^@ NM_020754.3(ARHGAP31):c.3801C>T (p.Pro1267=) http://identifiers.org/clinvar/342720 ^@ NM_020754.3(ARHGAP31):c.*2693G>A http://identifiers.org/clinvar/342770 ^@ NM_001023570.3(IQCB1):c.1611C>T (p.Leu537=) http://identifiers.org/clinvar/336033 ^@ NM_022436.2(ABCG5):c.*285G>C http://identifiers.org/clinvar/350649 ^@ NM_032446.2(MEGF10):c.1426+5G>T http://identifiers.org/clinvar/350549 ^@ NM_001182.4(ALDH7A1):c.*1702delT http://identifiers.org/clinvar/354575 ^@ NM_002397.4(MEF2C):c.*2266_*2267dupAA http://identifiers.org/clinvar/350799 ^@ NM_001999.3(FBN2):c.-338G>A http://identifiers.org/clinvar/357675 ^@ NM_000129.3(F13A1):c.799-13C>T http://identifiers.org/clinvar/350899 ^@ NM_000358.2(TGFBI):c.*267C>A http://identifiers.org/clinvar/357825 ^@ NM_014989.5(RIMS1):c.-140T>C http://identifiers.org/clinvar/357925 ^@ NM_012434.4(SLC17A5):c.606A>G (p.Ser202=) http://identifiers.org/clinvar/358025 ^@ NM_004999.3(MYO6):c.*1962A>G http://identifiers.org/clinvar/358075 ^@ NM_181714.3(LCA5):c.*1113G>A http://identifiers.org/clinvar/351199 ^@ NM_001369.2(DNAH5):c.2578-8_2578-6delTTG http://identifiers.org/clinvar/351249 ^@ NM_002109.5(HARS):c.-158G>C http://identifiers.org/clinvar/351099 ^@ NM_022464.4(SIL1):c.192C>T (p.Ala64=) http://identifiers.org/clinvar/358525 ^@ NM_000441.1(SLC26A4):c.*1875G>C http://identifiers.org/clinvar/351149 ^@ NM_199189.2(MATR3):c.*177A>G http://identifiers.org/clinvar/351299 ^@ NM_005219.4(DIAPH1):c.934-3T>G http://identifiers.org/clinvar/358725 ^@ NM_001127500.2(MET):c.*1987C>T http://identifiers.org/clinvar/358775 ^@ NM_006193.2(PAX4):c.*518_*521delTGACinsACACTGAT http://identifiers.org/clinvar/351449 ^@ NM_054027.4(ANKH):c.*2301dupA http://identifiers.org/clinvar/358875 ^@ NM_000883.3(IMPDH1):c.1338C>T (p.Ile446=) http://identifiers.org/clinvar/358925 ^@ NM_018718.2(CEP41):c.*1384dupA http://identifiers.org/clinvar/359425 ^@ NM_022458.3(LMBR1):c.1083C>T (p.Ser361=) http://identifiers.org/clinvar/352236 ^@ NM_001135243.1(TCOF1):c.4329_4331delGAA (p.Lys1444del) http://identifiers.org/clinvar/352136 ^@ NM_005211.3(CSF1R):c.2239G>A (p.Gly747Arg) http://identifiers.org/clinvar/352486 ^@ NM_005546.3(ITK):c.*941C>A http://identifiers.org/clinvar/352536 ^@ NM_001099287.1(NIPAL4):c.*874_*878delCTGGC http://identifiers.org/clinvar/352286 ^@ NM_000405.4(GM2A):c.*1829C>T http://identifiers.org/clinvar/352586 ^@ NM_000806.5(GABRA1):c.-439A>G http://identifiers.org/clinvar/352636 ^@ NM_000816.3(GABRG2):c.-4dupA http://identifiers.org/clinvar/360364 ^@ NM_014855.2(AP5Z1):c.*820C>G http://identifiers.org/clinvar/352736 ^@ NM_001017995.2(SH3PXD2B):c.*4283G>A http://identifiers.org/clinvar/352986 ^@ NM_000505.3(F12):c.1342C>T (p.Arg448Cys) http://identifiers.org/clinvar/360614 ^@ NM_153033.4(KCTD7):c.*2009A>G http://identifiers.org/clinvar/353036 ^@ NM_014244.4(ADAMTS2):c.*2951G>A http://identifiers.org/clinvar/357625 ^@ NM_183227.2(RAB23):c.*1665_*1667dupAAT http://identifiers.org/clinvar/361164 ^@ NM_015713.4(RRM2B):c.*869G>T http://identifiers.org/clinvar/353236 ^@ NM_014324.5(AMACR):c.*1178G>A http://identifiers.org/clinvar/361264 ^@ NM_178857.5(RP1L1):c.4831C>G (p.Arg1611Gly) http://identifiers.org/clinvar/357725 ^@ NM_001142800.1(EYS):c.2738+13T>C http://identifiers.org/clinvar/361517 ^@ NM_014112.4(TRPS1):c.*4848_*4850delATA http://identifiers.org/clinvar/357975 ^@ NM_004415.3(DSP):c.*289C>T http://identifiers.org/clinvar/353536 ^@ NM_002310.5(LIFR):c.*5225C>T http://identifiers.org/clinvar/358125 ^@ NM_022726.3(ELOVL4):c.*1506A>G http://identifiers.org/clinvar/300166 ^@ NM_033056.3(PCDH15):c.5726G>T (p.Arg1909Leu) http://identifiers.org/clinvar/300266 ^@ NM_000399.4(EGR2):c.*874A>G http://identifiers.org/clinvar/300855 ^@ NM_012330.3(KAT6B):c.307C>T (p.Arg103Cys) http://identifiers.org/clinvar/300905 ^@ NM_012330.3(KAT6B):c.*230A>G http://identifiers.org/clinvar/300955 ^@ NM_002247.3(KCNMA1):c.*321C>T http://identifiers.org/clinvar/301055 ^@ NM_007055.3(POLR3A):c.2580C>T (p.Asp860=) http://identifiers.org/clinvar/301155 ^@ NM_000429.2(MAT1A):c.*1297T>C http://identifiers.org/clinvar/365202 ^@ NM_014908.3(DOLK):c.-194G>T http://identifiers.org/clinvar/301205 ^@ NM_000429.2(MAT1A):c.-153C>T http://identifiers.org/clinvar/365252 ^@ NM_054012.3(ASS1):c.241G>A (p.Ala81Thr) http://identifiers.org/clinvar/365352 ^@ NM_015046.5(SETX):c.4924C>A (p.Pro1642Thr) http://identifiers.org/clinvar/365052 ^@ NM_003165.3(STXBP1):c.1320C>T (p.Ile440=) http://identifiers.org/clinvar/301255 ^@ NM_033100.3(CDHR1):c.2161A>G (p.Thr721Ala) http://identifiers.org/clinvar/365452 ^@ NM_000368.4(TSC1):c.*2461G>A http://identifiers.org/clinvar/301355 ^@ NM_004329.2(BMPR1A):c.*47T>A http://identifiers.org/clinvar/308759 ^@ NM_016123.3(IRAK4):c.*2071C>T http://identifiers.org/clinvar/365652 ^@ NM_000787.3(DBH):c.952G>T (p.Ala318Ser) http://identifiers.org/clinvar/301755 ^@ NM_002860.3(ALDH18A1):c.*56T>A http://identifiers.org/clinvar/309159 ^@ NM_000217.2(KCNA1):c.*724G>A http://identifiers.org/clinvar/365502 ^@ NM_000368.4(TSC1):c.*295C>G http://identifiers.org/clinvar/309359 ^@ NM_014191.3(SCN8A):c.3423A>G (p.Pro1141=) http://identifiers.org/clinvar/301905 ^@ NM_004621.5(TRPC6):c.1780A>G (p.Ile594Val) http://identifiers.org/clinvar/309509 ^@ NM_002282.3(KRT83):c.1017C>T (p.Ala339=) http://identifiers.org/clinvar/366203 ^@ NM_003070.4(SMARCA2):c.750A>G (p.Gln250=) http://identifiers.org/clinvar/365903 ^@ NM_006412.3(AGPAT2):c.*512G>A http://identifiers.org/clinvar/302255 ^@ NM_000051.3(ATM):c.*29C>G http://identifiers.org/clinvar/365953 ^@ NM_016219.4(MAN1B1):c.744T>C (p.Tyr248=) http://identifiers.org/clinvar/310248 ^@ NM_014319.4(LEMD3):c.*688T>C http://identifiers.org/clinvar/310348 ^@ NM_000239.2(LYZ):c.*470C>T http://identifiers.org/clinvar/366253 ^@ NM_002451.3(MTAP):c.*102A>G http://identifiers.org/clinvar/310398 ^@ NM_173353.3(TPH2):c.*659C>T http://identifiers.org/clinvar/310598 ^@ NM_025114.3(CEP290):c.5023A>G (p.Asn1675Asp) http://identifiers.org/clinvar/310703 ^@ NM_002108.3(HAL):c.1793C>T (p.Pro598Leu) http://identifiers.org/clinvar/321877 ^@ NM_006445.3(PRPF8):c.6227+8C>T http://identifiers.org/clinvar/321927 ^@ NM_006445.3(PRPF8):c.-34C>T http://identifiers.org/clinvar/340681 ^@ NM_014339.6(IL17RA):c.*3181T>G http://identifiers.org/clinvar/322277 ^@ NM_000430.3(PAFAH1B1):c.*1042_*1043delAG http://identifiers.org/clinvar/322427 ^@ NM_003593.2(FOXN1):c.1135+8C>T http://identifiers.org/clinvar/322477 ^@ NM_178170.2(NEK8):c.618+12C>T http://identifiers.org/clinvar/314881 ^@ NM_006329.3(FBLN5):c.224T>C (p.Val75Ala) http://identifiers.org/clinvar/313192 ^@ NM_020937.3(FANCM):c.508+5C>G http://identifiers.org/clinvar/313392 ^@ NM_000161.2(GCH1):c.582G>A (p.Thr194=) http://identifiers.org/clinvar/313492 ^@ NM_182914.2(SYNE2):c.1867C>G (p.Leu623Val) http://identifiers.org/clinvar/341720 ^@ NM_022098.3(XPNPEP3):c.*2860G>A http://identifiers.org/clinvar/315431 ^@ NM_022807.4(SNRPN):c.-672T>C http://identifiers.org/clinvar/341920 ^@ NM_000262.2(NAGA):c.-502A>C http://identifiers.org/clinvar/315531 ^@ NM_002420.5(TRPM1):c.876G>A (p.Ala292=) http://identifiers.org/clinvar/315581 ^@ NM_133647.1(SLC12A6):c.*1963_*1964delAA http://identifiers.org/clinvar/313742 ^@ NM_000347.5(SPTB):c.3091G>T (p.Asp1031Tyr) http://identifiers.org/clinvar/313792 ^@ NM_002382.4(MAX):c.*1229C>T http://identifiers.org/clinvar/342170 ^@ NM_005198.4(CHKB):c.927+10C>G http://identifiers.org/clinvar/313892 ^@ NM_015346.3(ZFYVE26):c.5064C>T (p.Asn1688=) http://identifiers.org/clinvar/315831 ^@ NM_002225.3(IVD):c.*2494C>G http://identifiers.org/clinvar/323616 ^@ NM_002055.4(GFAP):c.675C>T (p.Asp225=) http://identifiers.org/clinvar/314042 ^@ NM_031427.3(DNAL1):c.*1759C>G http://identifiers.org/clinvar/323766 ^@ NM_001193466.1(KANSL1):c.2742C>T (p.Asp914=) http://identifiers.org/clinvar/315981 ^@ NM_173500.3(TTBK2):c.2941C>G (p.Leu981Val) http://identifiers.org/clinvar/314192 ^@ NM_182894.2(VSX2):c.175G>A (p.Gly59Arg) http://identifiers.org/clinvar/316181 ^@ NM_014080.4(DUOX2):c.633C>T (p.Phe211=) http://identifiers.org/clinvar/324016 ^@ NM_005220.2(DLX3):c.*494A>G http://identifiers.org/clinvar/324223 ^@ NM_000717.4(CA4):c.-76G>C http://identifiers.org/clinvar/324325 ^@ NM_032043.2(BRIP1):c.*1820C>T http://identifiers.org/clinvar/324375 ^@ NM_000789.3(ACE):c.1216G>A (p.Val406Ile) http://identifiers.org/clinvar/324425 ^@ NM_000789.3(ACE):c.*319A>G http://identifiers.org/clinvar/314981 ^@ NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) http://identifiers.org/clinvar/315081 ^@ NM_177438.2(DICER1):c.*1395_*1396delCT http://identifiers.org/clinvar/315281 ^@ NM_139057.3(ADAMTS17):c.1875C>T (p.Ala625=) http://identifiers.org/clinvar/315631 ^@ NM_018648.3(NOP10):c.*136T>C http://identifiers.org/clinvar/315231 ^@ NM_139057.3(ADAMTS17):c.*425C>A http://identifiers.org/clinvar/325414 ^@ NM_024599.5(RHBDF2):c.*198G>A http://identifiers.org/clinvar/315781 ^@ NM_152594.2(SPRED1):c.*4725A>G http://identifiers.org/clinvar/317671 ^@ NM_000246.3(CIITA):c.-115T>G http://identifiers.org/clinvar/315931 ^@ NM_138477.2(CDAN1):c.2576C>T (p.Pro859Leu) http://identifiers.org/clinvar/325564 ^@ NM_006640.4(SEPT9):c.1519+9C>T http://identifiers.org/clinvar/316031 ^@ NM_000119.2(EPB42):c.-242C>G http://identifiers.org/clinvar/316131 ^@ NM_014080.4(DUOX2):c.*227C>T http://identifiers.org/clinvar/318021 ^@ NM_001143979.1(NDE1):c.-564C>T http://identifiers.org/clinvar/372036 ^@ NM_005732.3(RAD50):c.3164+22_3164+25dupCAGT http://identifiers.org/clinvar/372086 ^@ NM_020975.4(RET):c.1879+17C>T http://identifiers.org/clinvar/371886 ^@ NM_006231.3(POLE):c.3275+16A>G http://identifiers.org/clinvar/371936 ^@ NM_007294.3(BRCA1):c.5156delT (p.Val1719Glyfs) http://identifiers.org/clinvar/372143 ^@ NC_000023.10:g.153062612_153063511del900 http://identifiers.org/clinvar/372210 ^@ NM_013247.4(HTRA2):c.1316_1320delTGCAG (p.Val439Aspfs) http://identifiers.org/clinvar/372269 ^@ NM_032171.1(CEP78):c.893-1G>A http://identifiers.org/clinvar/372582 ^@ NM_001035.2(RYR2):c.506G>T (p.Arg169Leu) http://identifiers.org/clinvar/372786 ^@ NM_003722.4(TP63):c.605A>G (p.Tyr202Cys) http://identifiers.org/clinvar/372478 ^@ NM_058179.3(PSAT1):c.296_297delCTinsTG (p.Ala99Val) http://identifiers.org/clinvar/372531 ^@ NM_000359.2(TGM1):c.427C>T (p.Arg143Cys) http://identifiers.org/clinvar/372423 ^@ NM_002474.2(MYH11):c.4603C>T (p.Arg1535Trp) http://identifiers.org/clinvar/372632 ^@ NM_030662.3(MAP2K2):c.834C>G (p.Ile278Met) http://identifiers.org/clinvar/372684 ^@ NM_006767.3(LZTR1):c.27dupG (p.Gln10Alafs) http://identifiers.org/clinvar/372736 ^@ NM_000033.3(ABCD1):c.488G>A (p.Arg163His) http://identifiers.org/clinvar/372372 ^@ NM_004484.3(GPC3):c.175G>T (p.Gly59Ter) http://identifiers.org/clinvar/372322 ^@ NM_000390.3(CHM):c.1213C>T (p.Gln405Ter) http://identifiers.org/clinvar/374238 ^@ NM_005660.2(SLC35A2):c.500_509delTGCAGTGGGC (p.Leu167Profs) http://identifiers.org/clinvar/374308 ^@ NM_014844.4(TECPR2):c.1319delT (p.Leu440Argfs) http://identifiers.org/clinvar/374373 ^@ NC_000022.10:g.(?_38565225)_(38565478_?)del http://identifiers.org/clinvar/374426 ^@ NM_006567.4(FARS2):c.361A>G (p.Thr121Ala) http://identifiers.org/clinvar/374476 ^@ NM_002972.3(SBF1):c.3492-1G>T http://identifiers.org/clinvar/374526 ^@ NM_002693.2(POLG):c.3542G>A (p.Ser1181Asn) http://identifiers.org/clinvar/374576 ^@ NM_004453.3(ETFDH):c.1303T>C (p.Tyr435His) http://identifiers.org/clinvar/374626 ^@ NM_018051.4(WDR60):c.1777C>T (p.Arg593Trp) http://identifiers.org/clinvar/374676 ^@ NM_000718.3(CACNA1B):c.30C>T (p.Gly10=) http://identifiers.org/clinvar/374726 ^@ NM_003896.3(ST3GAL5):c.343G>A (p.Val115Ile) http://identifiers.org/clinvar/374776 ^@ NM_004321.7(KIF1A):c.502G>A (p.Val168Met) http://identifiers.org/clinvar/374836 ^@ NM_004444.4(EPHB4):c.2216G>A (p.Arg739Gln) http://identifiers.org/clinvar/374886 ^@ NM_022089.3(ATP13A2):c.3418C>T (p.Gln1140Ter) http://identifiers.org/clinvar/374953 ^@ NM_000190.3(HMBS):c.815A>C (p.Lys272Thr) http://identifiers.org/clinvar/375223 ^@ NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup http://identifiers.org/clinvar/375284 ^@ NM_005215.3(DCC):c.1790G>C (p.Arg597Pro) http://identifiers.org/clinvar/375338 ^@ NM_015697.7(COQ2):c.545T>G (p.Met182Arg) http://identifiers.org/clinvar/375390 ^@ NM_177550.4(SLC13A5):c.1475T>C (p.Leu492Pro) http://identifiers.org/clinvar/375444 ^@ NC_000004.11:g.(111426357_111528916)_(111888401_111990971)del http://identifiers.org/clinvar/375513 ^@ NM_001165963.1(SCN1A):c.603-2A>G http://identifiers.org/clinvar/375570 ^@ NM_002335.3(LRP5):c.4489-2A>G http://identifiers.org/clinvar/375630 ^@ NM_001909.4(CTSD):c.686_688delTCT (p.Phe229del) http://identifiers.org/clinvar/375687 ^@ SCN1B, ILE106PHE http://identifiers.org/clinvar/375775 ^@ NM_000527.4(LDLR):c.185C>G (p.Thr62Arg) http://identifiers.org/clinvar/375825 ^@ NM_000527.4(LDLR):c.1971C>A (p.Asn657Lys) http://identifiers.org/clinvar/375878 ^@ NM_001014796.1(DDR2):c.2304T>A (p.Ser768Arg) http://identifiers.org/clinvar/375928 ^@ NM_000222.2(KIT):c.2458G>T (p.Asp820Tyr) http://identifiers.org/clinvar/387732 ^@ NM_000251.2(MSH2):c.2559G>A (p.Glu853=) http://identifiers.org/clinvar/379985 ^@ NM_014362.3(HIBCH):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/379584 ^@ NM_025216.2(WNT10A):c.650A>G (p.Asp217Gly) http://identifiers.org/clinvar/391260 ^@ NM_015120.4(ALMS1):c.9141T>C (p.Cys3047=) http://identifiers.org/clinvar/378543 ^@ NM_198056.2(SCN5A):c.3033G>A (p.Pro1011=) http://identifiers.org/clinvar/392060 ^@ NM_024665.5(TBL1XR1):c.987G>A (p.Met329Ile) http://identifiers.org/clinvar/386132 ^@ NM_000251.2(MSH2):c.672C>T (p.Ile224=) http://identifiers.org/clinvar/389821 ^@ NM_001148.4(ANK2):c.8140G>A (p.Val2714Ile) http://identifiers.org/clinvar/389671 ^@ NM_000179.2(MSH6):c.2101T>C (p.Leu701=) http://identifiers.org/clinvar/389271 ^@ NM_015175.2(NBEAL2):c.3544-20C>A http://identifiers.org/clinvar/388871 ^@ NM_025132.3(WDR19):c.2872G>A (p.Ala958Thr) http://identifiers.org/clinvar/392210 ^@ NM_005051.2(QARS):c.1559C>T (p.Thr520Met) http://identifiers.org/clinvar/379684 ^@ NM_022912.2(REEP1):c.32+19C>G http://identifiers.org/clinvar/386632 ^@ NM_000038.5(APC):c.933+5C>T http://identifiers.org/clinvar/379784 ^@ NM_001104631.1(PDE4D):c.881T>G (p.Leu294Arg) http://identifiers.org/clinvar/380185 ^@ NM_174889.4(NDUFAF2):c.-33G>A http://identifiers.org/clinvar/388921 ^@ NM_000426.3(LAMA2):c.1885-19C>A http://identifiers.org/clinvar/380586 ^@ NM_001085411.2(NADK2):c.359A>G (p.Lys120Arg) http://identifiers.org/clinvar/389621 ^@ NM_022132.4(MCCC2):c.1215T>G (p.Thr405=) http://identifiers.org/clinvar/389221 ^@ NM_012470.3(TNPO3):c.873-3C>T http://identifiers.org/clinvar/377835 ^@ NM_004453.3(ETFDH):c.1602G>A (p.Pro534=) http://identifiers.org/clinvar/389721 ^@ NM_004722.3(AP4M1):c.740G>C (p.Gly247Ala) http://identifiers.org/clinvar/392160 ^@ NM_001458.4(FLNC):c.3789C>T (p.His1263=) http://identifiers.org/clinvar/388521 ^@ NM_001540.3(HSPB1):c.240A>G (p.Gln80=) http://identifiers.org/clinvar/386982 ^@ NM_014141.5(CNTNAP2):c.3247+16C>A http://identifiers.org/clinvar/383241 ^@ NM_001204824.1(KCNQ3):c.1203C>T (p.Ala401=) http://identifiers.org/clinvar/378035 ^@ NM_004519.3(KCNQ3):c.891A>G (p.Lys297=) http://identifiers.org/clinvar/389071 ^@ NM_012470.3(TNPO3):c.148T>C (p.Leu50=) http://identifiers.org/clinvar/393249 ^@ NM_001999.3(FBN2):c.2698C>T (p.Leu900Phe) http://identifiers.org/clinvar/391910 ^@ NM_021911.2(GABRB2):c.-153+13T>G http://identifiers.org/clinvar/387382 ^@ NM_001101.3(ACTB):c.474G>A (p.Gly158=) http://identifiers.org/clinvar/386482 ^@ NM_004408.3(DNM1):c.1335+16G>A http://identifiers.org/clinvar/387332 ^@ NM_000445.4(PLEC):c.2164-20C>T http://identifiers.org/clinvar/391760 ^@ NM_001130438.2(SPTAN1):c.1807-17C>T http://identifiers.org/clinvar/388671 ^@ NM_000368.4(TSC1):c.2149A>C (p.Arg717=) http://identifiers.org/clinvar/388771 ^@ NM_000089.3(COL1A2):c.96+10C>T http://identifiers.org/clinvar/387782 ^@ NM_000093.4(COL5A1):c.*15G>A http://identifiers.org/clinvar/380135 ^@ NM_003640.4(IKBKAP):c.3347-15A>G http://identifiers.org/clinvar/388721 ^@ NM_014629.3(ARHGEF10):c.2134G>T (p.Ala712Ser) http://identifiers.org/clinvar/389571 ^@ NM_017617.4(NOTCH1):c.1389C>T (p.Asn463=) http://identifiers.org/clinvar/380035 ^@ NM_020408.5(LYRM4):c.31T>G (p.Ser11Ala) http://identifiers.org/clinvar/387632 ^@ NM_000264.3(PTCH1):c.4050G>A (p.Arg1350=) http://identifiers.org/clinvar/392560 ^@ NM_004415.3(DSP):c.8580T>C (p.Tyr2860=) http://identifiers.org/clinvar/386732 ^@ NM_020822.2(KCNT1):c.2694C>T (p.Asp898=) http://identifiers.org/clinvar/133174 ^@ NM_000540.2(RYR1):c.7007G>A (p.Arg2336His) http://identifiers.org/clinvar/133224 ^@ NM_000540.2(RYR1):c.8400+28A>G http://identifiers.org/clinvar/133303 ^@ NM_006941.3(SOX10):c.271_275delCCCGT (p.Pro91Alafs) http://identifiers.org/clinvar/133366 ^@ NM_017617.4(NOTCH1):c.5167+73G>A http://identifiers.org/clinvar/133567 ^@ NM_152641.3(ARID2):c.3118G>A (p.Val1040Ile) http://identifiers.org/clinvar/133667 ^@ NM_004656.3(BAP1):c.121G>A (p.Gly41Ser) http://identifiers.org/clinvar/133717 ^@ NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) http://identifiers.org/clinvar/133771 ^@ NM_001211.5(BUB1B):c.2480A>G (p.Gln827Arg) http://identifiers.org/clinvar/133821 ^@ NM_001321786.1(CBLB):c.2018A>G (p.His673Arg) http://identifiers.org/clinvar/133871 ^@ NM_015083.2(CDK12):c.1913G>C (p.Gly638Ala) http://identifiers.org/clinvar/133921 ^@ NM_015125.4(CIC):c.884C>T (p.Thr295Met) http://identifiers.org/clinvar/133971 ^@ NM_177438.2(DICER1):c.4260_4262delGGA (p.Glu1420del) http://identifiers.org/clinvar/134021 ^@ NM_005228.4(EGFR):c.1562G>A (p.Arg521Lys) http://identifiers.org/clinvar/134073 ^@ NM_001005862.2(ERBB2):c.1703C>A (p.Ala568Asp) http://identifiers.org/clinvar/134123 ^@ NM_000122.1(ERCC3):c.2303C>T (p.Ala768Val) http://identifiers.org/clinvar/134173 ^@ NM_000123.3(ERCC5):c.3238C= (p.Arg1080=) http://identifiers.org/clinvar/134223 ^@ NM_004456.4(EZH2):c.566_568delATG (p.Asp189del) http://identifiers.org/clinvar/134274 ^@ NM_000135.2(FANCA):c.3857A>C (p.His1286Pro) http://identifiers.org/clinvar/134324 ^@ NM_033084.4(FANCD2):c.3446C>T (p.Ala1149Val) http://identifiers.org/clinvar/134375 ^@ NM_000043.5(FAS):c.756T>G (p.Asn252Lys) http://identifiers.org/clinvar/134425 ^@ NM_144997.5(FLCN):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/134475 ^@ NM_001077488.3(GNAS):c.435C>T (p.Pro145=) http://identifiers.org/clinvar/134525 ^@ NM_002185.3(IL7R):c.460C>T (p.His154Tyr) http://identifiers.org/clinvar/134575 ^@ NM_000215.3(JAK3):c.23C>T (p.Thr8Met) http://identifiers.org/clinvar/134625 ^@ NM_000222.2(KIT):c.2554G>A (p.Val852Ile) http://identifiers.org/clinvar/134728 ^@ NM_003482.3(KMT2D):c.14749C>T (p.Pro4917Ser) http://identifiers.org/clinvar/134778 ^@ NM_170606.2(KMT2C):c.9245C>T (p.Pro3082Leu) http://identifiers.org/clinvar/134829 ^@ NM_005373.2(MPL):c.655C>G (p.Gln219Glu) http://identifiers.org/clinvar/134882 ^@ NM_000267.3(NF1):c.1955G>A (p.Arg652His) http://identifiers.org/clinvar/134932 ^@ NM_017617.4(NOTCH1):c.4028C>T (p.Ala1343Val) http://identifiers.org/clinvar/134982 ^@ NM_024408.3(NOTCH2):c.6979A>G (p.Thr2327Ala) http://identifiers.org/clinvar/135032 ^@ NM_001015877.1(PHF6):c.527C>T (p.Ser176Leu) http://identifiers.org/clinvar/135083 ^@ NM_001198.3(PRDM1):c.1348C>T (p.Leu450Phe) http://identifiers.org/clinvar/135215 ^@ NM_014159.6(SETD2):c.3097A>G (p.Thr1033Ala) http://identifiers.org/clinvar/135266 ^@ NM_005631.4(SMO):c.503G>A (p.Arg168His) http://identifiers.org/clinvar/135316 ^@ NM_001127208.2(TET2):c.86C>G (p.Pro29Arg) http://identifiers.org/clinvar/136215 ^@ NM_020745.3(AARS2):c.2253G>A (p.Gly751=) http://identifiers.org/clinvar/136265 ^@ NM_001098.2(ACO2):c.1954-12C>T http://identifiers.org/clinvar/136316 ^@ NM_006796.2(AFG3L2):c.*2G>A http://identifiers.org/clinvar/136367 ^@ NM_000692.4(ALDH1B1):c.1338G>A (p.Ala446=) http://identifiers.org/clinvar/186708 ^@ NM_002878.3(RAD51D):c.786T>C (p.Pro262=) http://identifiers.org/clinvar/185167 ^@ NM_002878.3(RAD51D):c.231C>G (p.Thr77=) http://identifiers.org/clinvar/186506 ^@ NM_007294.3(BRCA1):c.683T>A (p.Phe228Tyr) http://identifiers.org/clinvar/184967 ^@ NM_058216.2(RAD51C):c.529A>G (p.Ile177Val) http://identifiers.org/clinvar/186406 ^@ NM_032043.2(BRIP1):c.3232A>T (p.Lys1078Ter) http://identifiers.org/clinvar/184717 ^@ NM_000546.5(TP53):c.510G>A (p.Thr170=) http://identifiers.org/clinvar/184317 ^@ NM_000546.5(TP53):c.354A>T (p.Thr118=) http://identifiers.org/clinvar/187708 ^@ NM_005359.5(SMAD4):c.1310T>G (p.Val437Gly) http://identifiers.org/clinvar/187158 ^@ NM_000455.4(STK11):c.1231C>G (p.Pro411Ala) http://identifiers.org/clinvar/187891 ^@ NM_005957.4(MTHFR):c.1167-2delA http://identifiers.org/clinvar/187941 ^@ NM_004409.4(DMPK):c.*224_*226[232] http://identifiers.org/clinvar/187991 ^@ NM_004409.4(DMPK):c.*224_*226[490] http://identifiers.org/clinvar/188041 ^@ NM_004409.4(DMPK):c.*224_*226[93] http://identifiers.org/clinvar/188092 ^@ NM_000488.3(SERPINC1):c.462_464delCTT (p.Phe155del) http://identifiers.org/clinvar/188143 ^@ NM_001148.4(ANK2):c.7132G>A (p.Glu2378Lys) http://identifiers.org/clinvar/189102 ^@ NM_000478.5(ALPL):c.891C>A (p.Tyr297Ter) http://identifiers.org/clinvar/189052 ^@ NM_000642.2(AGL):c.4221dupA (p.Leu1408Ilefs) http://identifiers.org/clinvar/189002 ^@ NM_000466.2(PEX1):c.2926+2T>C http://identifiers.org/clinvar/188951 ^@ NM_000370.3(TTPA):c.487delT (p.Trp163Glyfs) http://identifiers.org/clinvar/189152 ^@ NM_000227.4(LAMA3):c.3350+2T>G http://identifiers.org/clinvar/189202 ^@ NM_016035.4(COQ4):c.155T>C (p.Leu52Ser) http://identifiers.org/clinvar/189270 ^@ NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del http://identifiers.org/clinvar/189329 ^@ NM_000510.2(FSHB):c.298T>C (p.Cys100Arg) http://identifiers.org/clinvar/189477 ^@ NM_000314.6(PTEN):c.-1013G>T http://identifiers.org/clinvar/189417 ^@ NM_000314.6(PTEN):c.-727C>T http://identifiers.org/clinvar/189642 ^@ NM_004992.3(MECP2):c.1052_1200del149 (p.Pro351Glnfs) http://identifiers.org/clinvar/189742 ^@ NM_004992.3(MECP2):c.1030C>G (p.Arg344Gly) http://identifiers.org/clinvar/189542 ^@ NM_003159.2(CDKL5):c.99+34A>G http://identifiers.org/clinvar/189592 ^@ NM_003159.2(CDKL5):c.506_507delCA (p.Thr169Argfs) http://identifiers.org/clinvar/189692 ^@ NM_004992.3:c.(?_27)_(378_?)del http://identifiers.org/clinvar/189812 ^@ NC_000017.11:g.(?_68512379)_(68533431_?)del http://identifiers.org/clinvar/189876 ^@ NM_001165963.1(SCN1A):c.5264A>G (p.Asp1755Gly) http://identifiers.org/clinvar/189926 ^@ NM_001165963.1(SCN1A):c.5222G>A (p.Cys1741Tyr) http://identifiers.org/clinvar/190026 ^@ NM_001165963.1(SCN1A):c.5063G>T (p.Gly1688Val) http://identifiers.org/clinvar/189976 ^@ NM_001165963.1(SCN1A):c.4412C>T (p.Ser1471Phe) http://identifiers.org/clinvar/190212 ^@ NM_004628.4(XPC):c.1881A= (p.Ala627=) http://identifiers.org/clinvar/190161 ^@ NM_000124.3(ERCC6):c.2418C>G (p.Cys806Trp) http://identifiers.org/clinvar/190267 ^@ NM_004380.2(CREBBP):c.7210G>A (p.Glu2404Lys) http://identifiers.org/clinvar/190345 ^@ NM_002055.4(GFAP):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/190406 ^@ NM_000257.3(MYH7):c.4772T>C (p.Leu1591Pro) http://identifiers.org/clinvar/226585 ^@ NM_001277115.1(DNAH11):c.4726-15T>C http://identifiers.org/clinvar/227186 ^@ NM_004281.3(BAG3):c.465A>G (p.Ala155=) http://identifiers.org/clinvar/227236 ^@ NM_022124.5(CDH23):c.6795C>T (p.Ser2265=) http://identifiers.org/clinvar/226735 ^@ NM_002458.2(MUC5B):c.16476G>A (p.Gln5492=) http://identifiers.org/clinvar/226885 ^@ NM_001277269.1(OTOG):c.3387G>A (p.Pro1129=) http://identifiers.org/clinvar/226985 ^@ NM_012226.4(P2RX2):c.338+14C>A http://identifiers.org/clinvar/226935 ^@ NM_173591.3(OTOGL):c.2850T>C (p.Phe950=) http://identifiers.org/clinvar/226785 ^@ NM_016239.3(MYO15A):c.3658G>C (p.Gly1220Arg) http://identifiers.org/clinvar/226835 ^@ NM_003803.3(MYOM1):c.66G>C (p.Val22=) http://identifiers.org/clinvar/227086 ^@ NM_001039876.2(SYNE4):c.523G>C (p.Ala175Pro) http://identifiers.org/clinvar/226685 ^@ NM_000219.5(KCNE1):c.162C>T (p.Phe54=) http://identifiers.org/clinvar/227136 ^@ NM_144991.2(TSPEAR):c.51C>T (p.Gly17=) http://identifiers.org/clinvar/234685 ^@ NM_000179.2(MSH6):c.172_177dupAGGCCC (p.Pro59_Leu60insArgPro) http://identifiers.org/clinvar/234735 ^@ NM_000249.3(MLH1):c.2191C>T (p.Pro731Ser) http://identifiers.org/clinvar/234635 ^@ NM_000834.3(GRIN2B):c.2459G>T (p.Gly820Val) http://identifiers.org/clinvar/231858 ^@ NM_000059.3(BRCA2):c.9403C>T (p.Leu3135Phe) http://identifiers.org/clinvar/234886 ^@ NM_004360.4(CDH1):c.118A>T (p.Thr40Ser) http://identifiers.org/clinvar/234585 ^@ NM_000455.4(STK11):c.838_839delCC (p.Pro281Alafs) http://identifiers.org/clinvar/234785 ^@ NM_000455.4(STK11):c.1262_1263delGC (p.Ser421Lysfs) http://identifiers.org/clinvar/232008 ^@ NM_007194.3(CHEK2):c.1357G>C (p.Ala453Pro) http://identifiers.org/clinvar/234836 ^@ NM_007194.3(CHEK2):c.114A>G (p.Ile38Met) http://identifiers.org/clinvar/232609 ^@ NM_001128425.1(MUTYH):c.1083G>A (p.Lys361=) http://identifiers.org/clinvar/232108 ^@ NM_000465.3(BARD1):c.1904-2delA http://identifiers.org/clinvar/231119 ^@ NM_000465.3(BARD1):c.1138A>G (p.Asn380Asp) http://identifiers.org/clinvar/233109 ^@ NM_000465.3(BARD1):c.975C>T (p.His325=) http://identifiers.org/clinvar/230619 ^@ NM_000465.3(BARD1):c.939T>C (p.Ser313=) http://identifiers.org/clinvar/231019 ^@ NM_000465.3(BARD1):c.216-1G>A http://identifiers.org/clinvar/230119 ^@ NM_000251.2(MSH2):c.-68-213G>A http://identifiers.org/clinvar/233559 ^@ NM_000251.2(MSH2):c.707A>G (p.Asp236Gly) http://identifiers.org/clinvar/230869 ^@ NM_000179.2(MSH6):c.1870G>A (p.Gly624Ser) http://identifiers.org/clinvar/263339 ^@ NM_005902.3(SMAD3):c.376C>T (p.His126Tyr) http://identifiers.org/clinvar/264500 ^@ NM_005902.3(SMAD3):c.1091A>G (p.Tyr364Cys) http://identifiers.org/clinvar/264194 ^@ NM_000071.2(CBS):c.609C>T (p.His203=) http://identifiers.org/clinvar/264970 ^@ NM_000059.3(BRCA2):c.6841+1499C>T http://identifiers.org/clinvar/264920 ^@ NM_000059.3(BRCA2):c.9649-214_9649-211del http://identifiers.org/clinvar/265480 ^@ NM_006147.3(IRF6):c.154G>T (p.Glu52Ter) http://identifiers.org/clinvar/265581 ^@ NM_000038.5(APC):c.508_509delGA (p.Asp170Terfs) http://identifiers.org/clinvar/265631 ^@ NM_000038.5(APC):c.4741delT (p.Ser1581Leufs) http://identifiers.org/clinvar/265175 ^@ NM_000162.3(GCK):c.766G>A (p.Glu256Lys) http://identifiers.org/clinvar/265330 ^@ NM_000318.2(PEX2):c.740G>A (p.Cys247Tyr) http://identifiers.org/clinvar/265125 ^@ NM_015065.2(EXPH5):c.5786delC (p.Pro1929Leufs) http://identifiers.org/clinvar/265022 ^@ NM_000352.4(ABCC8):c.4028A>T (p.Lys1343Met) http://identifiers.org/clinvar/265430 ^@ NM_001844.4(COL2A1):c.2813delC (p.Pro938Leufs) http://identifiers.org/clinvar/265530 ^@ NM_001846.3(COL4A2):c.1776+1G>A http://identifiers.org/clinvar/265681 ^@ NM_017882.2(CLN6):c.198+1G>A http://identifiers.org/clinvar/265280 ^@ NM_015294.4(TRIM37):c.2696-2A>G http://identifiers.org/clinvar/265380 ^@ NM_172107.3(KCNQ2):c.1741C>G (p.Arg581Gly) http://identifiers.org/clinvar/265075 ^@ NM_000074.2(CD40LG):c.431G>A (p.Gly144Glu) http://identifiers.org/clinvar/265227 ^@ NM_000425.4(L1CAM):c.2547+1G>A http://identifiers.org/clinvar/265870 ^@ NM_022068.3(PIEZO2):c.2708C>G (p.Ser903Ter) http://identifiers.org/clinvar/265920 ^@ NM_174936.3(PCSK9):c.372G>A (p.Val124=) http://identifiers.org/clinvar/265975 ^@ NM_003611.2(OFD1):c.1612C>T (p.Gln538*) http://identifiers.org/clinvar/266026 ^@ NM_001282948.1(JMJD1C):c.5864A>T (p.Glu1955Val) http://identifiers.org/clinvar/266102 ^@ NM_024685.3(BBS10):c.959_962delGTTA (p.Ser320Ilefs) http://identifiers.org/clinvar/267091 ^@ NM_000059.3(BRCA2):c.8504C>G (p.Ser2835Ter) http://identifiers.org/clinvar/267141 ^@ NM_000059.3(BRCA2):c.9134delT (p.Leu3045Tyrfs) http://identifiers.org/clinvar/266452 ^@ NM_007294.3(BRCA1):c.4146_4155dupCTCAGGGCTA (p.Ser1386Leufs) http://identifiers.org/clinvar/266402 ^@ NM_007294.3(BRCA1):c.3731_3743delATAGCACCGTTGC (p.His1244Leufs) http://identifiers.org/clinvar/266302 ^@ NM_007294.3(BRCA1):c.2776_2777insTA (p.Thr926Ilefs) http://identifiers.org/clinvar/266252 ^@ NM_007294.3(BRCA1):c.2346dupT (p.Ile783Tyrfs) http://identifiers.org/clinvar/266202 ^@ NM_007294.3(BRCA1):c.1930delT (p.Cys644Valfs) http://identifiers.org/clinvar/266152 ^@ NM_007294.3(BRCA1):c.1277C>A (p.Ser426Ter) http://identifiers.org/clinvar/266352 ^@ NM_007294.3(BRCA1):c.330_331insA (p.Glu111Argfs) http://identifiers.org/clinvar/267202 ^@ NM_144773.3(PROKR2):c.97T>C (p.Tyr33His) http://identifiers.org/clinvar/267343 ^@ NM_000251.2(MSH2):c.1387-?_1510+?del http://identifiers.org/clinvar/267412 ^@ NM_002335.3(LRP5):c.1142A>G (p.Asp381Gly) http://identifiers.org/clinvar/267698 ^@ NM_000059.3(BRCA2):c.8488-?_8632+?del http://identifiers.org/clinvar/267648 ^@ NM_000059.3(BRCA2):c.516+1del http://identifiers.org/clinvar/267598 ^@ NM_007294.3(BRCA1):c.5332+2T>C http://identifiers.org/clinvar/267548 ^@ NM_007294.3(BRCA1):c.4484+5G>C http://identifiers.org/clinvar/267498 ^@ NM_007294.3(BRCA1):c.1251_1252delTGinsA (p.Asn417Lysfs) http://identifiers.org/clinvar/267777 ^@ NM_006087.3(TUBB4A):c.731G>T (p.G244V) http://identifiers.org/clinvar/267828 ^@ 46;XY;t(7;19)(q32;q13.1)dn http://identifiers.org/clinvar/267878 ^@ 46;XX;t(1;13)(p36.1;q12.1)dn http://identifiers.org/clinvar/267928 ^@ 46;Y;inv(X)(p11.2q28)mat http://identifiers.org/clinvar/267978 ^@ 46;XY;t(7;12)(q21.2;q14.2) http://identifiers.org/clinvar/268028 ^@ 46;XY;t(1;14)(p32.1;q32.1)dn http://identifiers.org/clinvar/268092 ^@ NM_005921.1(MAP3K1):c.1923G>A (p.Met641Ile) http://identifiers.org/clinvar/268146 ^@ NM_005506.3(SCARB2):c.1270C>T (p.Arg424Ter) http://identifiers.org/clinvar/271283 ^@ NM_033123.3(PLCZ1):c.1465A>T (p.Ile489Phe) http://identifiers.org/clinvar/291282 ^@ NM_000272.3(NPHP1):c.619C>G (p.Leu207Val) http://identifiers.org/clinvar/291639 ^@ NM_015074.3(KIF1B):c.*3146T>C http://identifiers.org/clinvar/291689 ^@ NM_013296.4(GPSM2):c.-486G>C http://identifiers.org/clinvar/292139 ^@ NM_001232.3(CASQ2):c.-210_-205delTGTGTG http://identifiers.org/clinvar/293128 ^@ NM_000702.3(ATP1A2):c.528G>T (p.Met176Ile) http://identifiers.org/clinvar/293328 ^@ NM_003001.3(SDHC):c.*469G>A http://identifiers.org/clinvar/293228 ^@ NM_002857.3(PEX19):c.459G>A (p.Leu153=) http://identifiers.org/clinvar/293578 ^@ NM_000130.4(F5):c.5721T>C (p.Cys1907=) http://identifiers.org/clinvar/293778 ^@ NM_022089.3(ATP13A2):c.2529+9G>A http://identifiers.org/clinvar/293678 ^@ NM_152281.2(GORAB):c.*1063T>A http://identifiers.org/clinvar/293828 ^@ NM_018122.4(DARS2):c.1758C>T (p.Asp586=) http://identifiers.org/clinvar/293178 ^@ NM_000702.3(ATP1A2):c.*1548C>T http://identifiers.org/clinvar/293928 ^@ NM_002065.6(GLUL):c.*687A>G http://identifiers.org/clinvar/294028 ^@ NM_005562.2(LAMC2):c.*362T>C http://identifiers.org/clinvar/293278 ^@ NM_004550.4(NDUFS2):c.903C>T (p.Asp301=) http://identifiers.org/clinvar/293428 ^@ NM_004431.4(EPHA2):c.1583-15G>C http://identifiers.org/clinvar/293478 ^@ NM_005149.2(TBX19):c.959C>T (p.Ser320Leu) http://identifiers.org/clinvar/293378 ^@ NM_006182.2(DDR2):c.1142C>G (p.Pro381Arg) http://identifiers.org/clinvar/293528 ^@ NM_006996.2(SLC19A2):c.561G>T (p.Leu187=) http://identifiers.org/clinvar/293628 ^@ NM_000130.4(F5):c.1538G>A (p.Arg513Lys) http://identifiers.org/clinvar/293728 ^@ NM_000639.2(FASLG):c.108G>A (p.Val36=) http://identifiers.org/clinvar/293878 ^@ NM_033343.3(LHX4):c.*130C>T http://identifiers.org/clinvar/337040 ^@ NM_080916.2(DGUOK):c.-60_-57dupGCGA http://identifiers.org/clinvar/337140 ^@ NM_013247.4(HTRA2):c.*249G>C http://identifiers.org/clinvar/337190 ^@ NM_000821.6(GGCX):c.*3805A>G http://identifiers.org/clinvar/337290 ^@ NM_198843.2(SFTPB):c.*1050C>A http://identifiers.org/clinvar/337340 ^@ NM_003896.3(ST3GAL5):c.-53G>A http://identifiers.org/clinvar/337240 ^@ NM_000821.6(GGCX):c.*680G>A http://identifiers.org/clinvar/346019 ^@ NM_002292.3(LAMB2):c.-252T>C http://identifiers.org/clinvar/346069 ^@ NM_144499.2(GNAT1):c.*1397G>T http://identifiers.org/clinvar/342270 ^@ NM_033084.4(FANCD2):c.1545+9T>C http://identifiers.org/clinvar/346569 ^@ NM_032682.5(FOXP1):c.*3413T>C http://identifiers.org/clinvar/342420 ^@ NM_000551.3(VHL):c.*820A>G http://identifiers.org/clinvar/342520 ^@ NM_198196.2(CD96):c.181G>A (p.Val61Ile) http://identifiers.org/clinvar/345769 ^@ NM_033629.4(TREX1):c.-68T>C http://identifiers.org/clinvar/345819 ^@ NM_000094.3(COL7A1):c.6457-11A>G http://identifiers.org/clinvar/342820 ^@ NM_000388.3(CASR):c.*1198T>C http://identifiers.org/clinvar/342870 ^@ NM_053025.3(MYLK):c.4725C>T (p.Tyr1575=) http://identifiers.org/clinvar/346119 ^@ NM_004656.3(BAP1):c.1338C>T (p.Asn446=) http://identifiers.org/clinvar/346169 ^@ NM_052859.3(RFT1):c.*861A>G http://identifiers.org/clinvar/347558 ^@ NM_031296.2(RAB33B):c.-54C>G http://identifiers.org/clinvar/347908 ^@ NM_001080522.2(CC2D2A):c.*45G>C http://identifiers.org/clinvar/346519 ^@ NM_000248.3(MITF):c.*836G>T http://identifiers.org/clinvar/346619 ^@ NM_032682.5(FOXP1):c.*1027_*1030dupCTTT http://identifiers.org/clinvar/346669 ^@ NM_002942.4(ROBO2):c.-459G>A http://identifiers.org/clinvar/348308 ^@ NM_207352.3(CYP4V2):c.1083C>T (p.Asp361=) http://identifiers.org/clinvar/348458 ^@ NM_133330.2(NSD2):c.*342_*344delCTC http://identifiers.org/clinvar/358675 ^@ NM_014491.3(FOXP2):c.*3749C>A http://identifiers.org/clinvar/362713 ^@ NM_000742.3(CHRNA2):c.-550_-549dupGA http://identifiers.org/clinvar/362863 ^@ NM_023110.2(FGFR1):c.*1770G>A http://identifiers.org/clinvar/363063 ^@ NM_006749.4(SLC20A2):c.*171G>A http://identifiers.org/clinvar/363313 ^@ NM_006269.1(RP1):c.6255A>T (p.Gln2085His) http://identifiers.org/clinvar/363713 ^@ NM_017866.5(TMEM70):c.*904A>G http://identifiers.org/clinvar/361064 ^@ NM_017890.4(VPS13B):c.4936C>T (p.Pro1646Ser) http://identifiers.org/clinvar/361114 ^@ NM_017890.4(VPS13B):c.*1105_*1108dupTGAT http://identifiers.org/clinvar/360564 ^@ NM_000048.3(ASL):c.-31G>A http://identifiers.org/clinvar/365102 ^@ NM_000118.3(ENG):c.-186G>A http://identifiers.org/clinvar/360814 ^@ NM_005751.4(AKAP9):c.931-8delT http://identifiers.org/clinvar/365152 ^@ NM_001130438.2(SPTAN1):c.-71C>T http://identifiers.org/clinvar/360864 ^@ NM_194456.1(KRIT1):c.*1444T>G http://identifiers.org/clinvar/360914 ^@ NM_000466.2(PEX1):c.3546A>G (p.Gln1182=) http://identifiers.org/clinvar/360964 ^@ NM_000089.3(COL1A2):c.2566-6A>G http://identifiers.org/clinvar/361014 ^@ NM_014251.2(SLC25A13):c.1393G>T (p.Gly465Cys) http://identifiers.org/clinvar/365302 ^@ NM_015046.5(SETX):c.*2610T>G http://identifiers.org/clinvar/365602 ^@ NM_014694.3(ADAMTSL2):c.2089-10G>A http://identifiers.org/clinvar/361314 ^@ NM_178857.5(RP1L1):c.3303C>T (p.Pro1101=) http://identifiers.org/clinvar/365702 ^@ NM_000093.4(COL5A1):c.-139G>T http://identifiers.org/clinvar/361414 ^@ NM_178857.5(RP1L1):c.352C>T (p.Arg118Trp) http://identifiers.org/clinvar/361465 ^@ NM_001715.2(BLK):c.-267C>T http://identifiers.org/clinvar/365752 ^@ NM_000093.4(COL5A1):c.*589G>A http://identifiers.org/clinvar/365802 ^@ NM_014564.4(LHX3):c.*773G>A http://identifiers.org/clinvar/366003 ^@ NM_024757.4(EHMT1):c.1160G>A (p.Arg387His) http://identifiers.org/clinvar/366053 ^@ NM_144966.5(FREM1):c.*2437A>G http://identifiers.org/clinvar/366103 ^@ NM_144966.5(FREM1):c.6139-4T>C http://identifiers.org/clinvar/366153 ^@ NM_144966.5(FREM1):c.2079-7T>C http://identifiers.org/clinvar/311403 ^@ NM_002010.2(FGF9):c.-777G>T http://identifiers.org/clinvar/303744 ^@ NM_000525.3(KCNJ11):c.-546G>T http://identifiers.org/clinvar/303894 ^@ NM_181507.1(HPS5):c.1075C>T (p.Arg359Cys) http://identifiers.org/clinvar/304344 ^@ NM_000280.4(PAX6):c.*939A>G http://identifiers.org/clinvar/304394 ^@ NM_024426.4(WT1):c.*707C>A http://identifiers.org/clinvar/364163 ^@ NM_004612.3(TGFBR1):c.*3262C>T http://identifiers.org/clinvar/304444 ^@ NM_003477.2(PDHX):c.-505G>A http://identifiers.org/clinvar/312792 ^@ NM_020366.3(RPGRIP1):c.2331C>T (p.Thr777=) http://identifiers.org/clinvar/298916 ^@ NM_004132.4(HABP2):c.1095-6T>C http://identifiers.org/clinvar/313142 ^@ NM_001079668.2(NKX2-1):c.816C>T (p.Thr272=) http://identifiers.org/clinvar/313242 ^@ NM_002408.3(MGAT2):c.-429G>A http://identifiers.org/clinvar/304744 ^@ NM_018389.4(SLC35C1):c.1013C>T (p.Thr338Ile) http://identifiers.org/clinvar/299316 ^@ NM_001033855.2(DCLRE1C):c.985T>A (p.Leu329Met) http://identifiers.org/clinvar/313442 ^@ NM_005982.3(SIX1):c.*1496C>T http://identifiers.org/clinvar/313692 ^@ NM_182914.2(SYNE2):c.*734T>A http://identifiers.org/clinvar/299016 ^@ NM_000141.4(FGFR2):c.-157A>G http://identifiers.org/clinvar/299066 ^@ NM_001609.3(ACADSB):c.-39G>A http://identifiers.org/clinvar/313842 ^@ NM_152443.2(RDH12):c.701G>A (p.Arg234His) http://identifiers.org/clinvar/299666 ^@ NM_017433.4(MYO3A):c.3035C>T (p.Pro1012Leu) http://identifiers.org/clinvar/299216 ^@ NM_021980.4(OPTN):c.627-10T>C http://identifiers.org/clinvar/314092 ^@ NM_031427.3(DNAL1):c.*4455T>G http://identifiers.org/clinvar/314142 ^@ NM_031427.3(DNAL1):c.*7017dupA http://identifiers.org/clinvar/314242 ^@ NM_000428.2(LTBP2):c.*2353T>C http://identifiers.org/clinvar/314292 ^@ NM_000428.2(LTBP2):c.2837C>T (p.Thr946Ile) http://identifiers.org/clinvar/300016 ^@ NM_000124.3(ERCC6):c.*1112G>A http://identifiers.org/clinvar/300066 ^@ NM_000124.3(ERCC6):c.2391C>T (p.Ser797=) http://identifiers.org/clinvar/299616 ^@ NM_201590.2(CACNB2):c.*1665T>C http://identifiers.org/clinvar/314931 ^@ NM_004239.4(TRIP11):c.5457+13T>A http://identifiers.org/clinvar/299716 ^@ NM_014915.2(ANKRD26):c.*1012C>A http://identifiers.org/clinvar/300216 ^@ NM_000417.2(IL2RA):c.*1772A>C http://identifiers.org/clinvar/305885 ^@ NM_012309.4(SHANK2):c.912+8113C>G http://identifiers.org/clinvar/299766 ^@ NM_014915.2(ANKRD26):c.50C>T (p.Ala17Val) http://identifiers.org/clinvar/299816 ^@ NM_021252.4(RAB18):c.260-7dupA http://identifiers.org/clinvar/315331 ^@ NM_139057.3(ADAMTS17):c.-69C>T http://identifiers.org/clinvar/315381 ^@ NM_144599.4(NIPA1):c.*2375A>G http://identifiers.org/clinvar/315481 ^@ NM_002420.5(TRPM1):c.*540dupA http://identifiers.org/clinvar/299966 ^@ NM_002900.2(RBP3):c.2407G>A (p.Ala803Thr) http://identifiers.org/clinvar/315731 ^@ NM_152594.2(SPRED1):c.-93C>T http://identifiers.org/clinvar/329154 ^@ NM_033064.4(ATCAY):c.*143G>A http://identifiers.org/clinvar/311203 ^@ NM_001846.3(COL4A2):c.*280C>G http://identifiers.org/clinvar/311253 ^@ NM_000131.4(F7):c.*888G>A http://identifiers.org/clinvar/311453 ^@ NM_002010.2(FGF9):c.*996A>G http://identifiers.org/clinvar/318223 ^@ NM_014714.3(IFT140):c.-17G>C http://identifiers.org/clinvar/330193 ^@ NM_003283.5(TNNT1):c.611+12G>T http://identifiers.org/clinvar/310498 ^@ NM_024685.3(BBS10):c.197+4C>T http://identifiers.org/clinvar/310548 ^@ NM_020661.3(AICDA):c.*1694A>G http://identifiers.org/clinvar/318823 ^@ NM_001770.5(CD19):c.*180C>T http://identifiers.org/clinvar/337690 ^@ NM_018848.3(MKKS):c.1269C>T (p.His423=) http://identifiers.org/clinvar/318973 ^@ NM_024006.5(VKORC1):c.*245G>A http://identifiers.org/clinvar/310653 ^@ NM_001920.4(DCN):c.944C>A (p.Pro315His) http://identifiers.org/clinvar/310803 ^@ NM_005888.3(SLC25A3):c.861G>T (p.Val287=) http://identifiers.org/clinvar/337990 ^@ NM_001042472.2(ABHD12):c.1176G>A (p.Ser392=) http://identifiers.org/clinvar/311003 ^@ NM_001845.5(COL4A1):c.*1099G>A http://identifiers.org/clinvar/338240 ^@ NM_032034.3(SLC4A11):c.2106C>G (p.Leu702=) http://identifiers.org/clinvar/311053 ^@ NM_001845.5(COL4A1):c.2344+11G>A http://identifiers.org/clinvar/311103 ^@ NM_001846.3(COL4A2):c.549+5G>A http://identifiers.org/clinvar/311303 ^@ NM_021954.3(GJA3):c.*1997G>A http://identifiers.org/clinvar/311353 ^@ NM_004004.5(GJB2):c.*1277T>C http://identifiers.org/clinvar/312892 ^@ NM_000257.3(MYH7):c.5026C>T (p.Arg1676Trp) http://identifiers.org/clinvar/313092 ^@ NM_021914.7(CFL2):c.*362G>A http://identifiers.org/clinvar/313542 ^@ NM_182914.2(SYNE2):c.8991G>A (p.Gln2997=) http://identifiers.org/clinvar/339430 ^@ NM_025219.2(DNAJC5):c.*3502_*3505delCTGT http://identifiers.org/clinvar/339630 ^@ NM_000484.3(APP):c.2064+10A>T http://identifiers.org/clinvar/313942 ^@ NM_000021.3(PSEN1):c.-191C>T http://identifiers.org/clinvar/339930 ^@ NM_000411.6(HLCS):c.*1856T>C http://identifiers.org/clinvar/321627 ^@ NM_002472.2(MYH8):c.4784G>A (p.Arg1595Lys) http://identifiers.org/clinvar/312442 ^@ NM_000115.4(EDNRB):c.*2426A>C http://identifiers.org/clinvar/321777 ^@ NM_002470.3(MYH3):c.-31C>T http://identifiers.org/clinvar/326465 ^@ NM_001943.4(DSG2):c.-94G>C http://identifiers.org/clinvar/326565 ^@ NM_000371.3(TTR):c.*143G>C http://identifiers.org/clinvar/328454 ^@ NM_173483.3(CYP4F22):c.*262C>A http://identifiers.org/clinvar/326815 ^@ NM_015559.2(SETBP1):c.*4237C>A http://identifiers.org/clinvar/328554 ^@ NM_000453.2(SLC5A5):c.*261dupT http://identifiers.org/clinvar/328604 ^@ NM_005535.2(IL12RB1):c.139C>T (p.Pro47Ser) http://identifiers.org/clinvar/326965 ^@ NM_001080467.2(MYO5B):c.*1638C>T http://identifiers.org/clinvar/328854 ^@ NM_004646.3(NPHS1):c.3388-14C>T http://identifiers.org/clinvar/327215 ^@ NM_005359.5(SMAD4):c.*6353delT http://identifiers.org/clinvar/329004 ^@ NM_000540.2(RYR1):c.2995C>T (p.Arg999Cys) http://identifiers.org/clinvar/327265 ^@ NM_001083962.1(TCF4):c.*2951A>G http://identifiers.org/clinvar/329054 ^@ NM_000540.2(RYR1):c.6730C>T (p.Arg2244Trp) http://identifiers.org/clinvar/329204 ^@ NM_033064.4(ATCAY):c.*3376C>T http://identifiers.org/clinvar/329254 ^@ NM_181882.2(PRX):c.3799G>A (p.Gly1267Arg) http://identifiers.org/clinvar/328004 ^@ NM_001005360.2(DNM2):c.*166G>A http://identifiers.org/clinvar/328054 ^@ NM_000527.4(LDLR):c.2140+14C>T http://identifiers.org/clinvar/328354 ^@ NM_000156.5(GAMT):c.20C>A (p.Thr7Asn) http://identifiers.org/clinvar/328404 ^@ NM_000435.2(NOTCH3):c.2588C>T (p.Ser863Leu) http://identifiers.org/clinvar/328654 ^@ NM_001031726.3(C19orf12):c.*3672C>T http://identifiers.org/clinvar/328704 ^@ NM_001031726.3(C19orf12):c.*1159C>T http://identifiers.org/clinvar/328754 ^@ NM_014270.4(SLC7A9):c.687C>T (p.Leu229=) http://identifiers.org/clinvar/337740 ^@ NM_000214.2(JAG1):c.*253C>T http://identifiers.org/clinvar/337940 ^@ NM_198994.2(TGM6):c.1995G>C (p.Arg665Ser) http://identifiers.org/clinvar/339130 ^@ NM_207034.2(EDN3):c.*138_*139insCC http://identifiers.org/clinvar/339280 ^@ NM_001853.3(COL9A3):c.900+10C>T http://identifiers.org/clinvar/339680 ^@ NM_178817.3(MRAP):c.219G>A (p.Lys73=) http://identifiers.org/clinvar/339780 ^@ NM_000219.5(KCNE1):c.-253A>G http://identifiers.org/clinvar/337790 ^@ NM_006363.4(SEC23B):c.85C>T (p.Leu29=) http://identifiers.org/clinvar/337890 ^@ NM_000361.2(THBD):c.716C>T (p.Ala239Val) http://identifiers.org/clinvar/340080 ^@ NM_000071.2(CBS):c.1453A>G (p.Lys485Glu) http://identifiers.org/clinvar/340180 ^@ NM_000211.4(ITGB2):c.117G>A (p.Ser39=) http://identifiers.org/clinvar/338090 ^@ NM_015338.5(ASXL1):c.1929G>T (p.Gly643=) http://identifiers.org/clinvar/338190 ^@ NM_006892.3(DNMT3B):c.*245dupT http://identifiers.org/clinvar/340731 ^@ NM_014339.6(IL17RA):c.*5480T>A http://identifiers.org/clinvar/340781 ^@ NM_017929.5(PEX26):c.*1003T>G http://identifiers.org/clinvar/338980 ^@ NM_004738.4(VAPB):c.*3764C>T http://identifiers.org/clinvar/339030 ^@ NM_001001433.2(STX16):c.-707G>A http://identifiers.org/clinvar/339080 ^@ NM_001001433.2(STX16):c.*1764C>T http://identifiers.org/clinvar/339180 ^@ NM_017671.4(FERMT1):c.*1464C>T http://identifiers.org/clinvar/339230 ^@ NM_017671.4(FERMT1):c.479T>C (p.Ile160Thr) http://identifiers.org/clinvar/339480 ^@ NM_012469.3(PRPF6):c.1944C>T (p.Ala648=) http://identifiers.org/clinvar/339580 ^@ NM_000933.3(PLCB4):c.2592C>T (p.Asp864=) http://identifiers.org/clinvar/341620 ^@ NM_006941.3(SOX10):c.507G>A (p.Pro169=) http://identifiers.org/clinvar/339730 ^@ NM_000219.5(KCNE1):c.*2098T>C http://identifiers.org/clinvar/339830 ^@ NM_001754.4(RUNX1):c.*2474T>C http://identifiers.org/clinvar/341820 ^@ NM_001429.3(EP300):c.6358G>T (p.Gly2120Cys) http://identifiers.org/clinvar/339980 ^@ NM_000411.6(HLCS):c.-382A>G http://identifiers.org/clinvar/340030 ^@ NM_020639.2(RIPK4):c.630G>A (p.Ala210=) http://identifiers.org/clinvar/387132 ^@ NM_006412.3(AGPAT2):c.365A>C (p.Glu122Ala) http://identifiers.org/clinvar/389421 ^@ NM_000051.3(ATM):c.843A>G (p.Glu281=) http://identifiers.org/clinvar/391460 ^@ NM_017617.4(NOTCH1):c.1929T>C (p.Asp643=) http://identifiers.org/clinvar/388821 ^@ NM_007327.3(GRIN1):c.351C>A (p.Pro117=) http://identifiers.org/clinvar/383391 ^@ NM_001134363.2(RBM20):c.1162T>C (p.Leu388=) http://identifiers.org/clinvar/379935 ^@ NM_000136.2(FANCC):c.-65C>T http://identifiers.org/clinvar/386832 ^@ NM_004612.3(TGFBR1):c.558G>A (p.Thr186=) http://identifiers.org/clinvar/380335 ^@ NM_004329.2(BMPR1A):c.-132G>C http://identifiers.org/clinvar/377485 ^@ NM_020987.4(ANK3):c.9935C>T (p.Ala3312Val) http://identifiers.org/clinvar/383491 ^@ NM_030813.5(CLPB):c.1212+16T>C http://identifiers.org/clinvar/378442 ^@ NM_000314.6(PTEN):c.1027-17A>T http://identifiers.org/clinvar/379634 ^@ NM_000051.3(ATM):c.5178-11G>A http://identifiers.org/clinvar/392110 ^@ NM_017841.2(SDHAF2):c.-1A>C http://identifiers.org/clinvar/386082 ^@ NM_005002.4(NDUFA9):c.483T>A (p.Val161=) http://identifiers.org/clinvar/391960 ^@ NM_000431.3(MVK):c.-29C>T http://identifiers.org/clinvar/391860 ^@ NM_001844.4(COL2A1):c.2552A>C (p.Gln851Pro) http://identifiers.org/clinvar/386882 ^@ NM_014191.3(SCN8A):c.3459A>G (p.Glu1153=) http://identifiers.org/clinvar/386932 ^@ NM_004990.3(MARS):c.42G>T (p.Pro14=) http://identifiers.org/clinvar/383291 ^@ NM_000507.3(FBP1):c.324G>A (p.Pro108=) http://identifiers.org/clinvar/391810 ^@ NM_144670.5(A2ML1):c.4121G>A (p.Gly1374Glu) http://identifiers.org/clinvar/377434 ^@ NM_001613.2(ACTA2):c.617-14T>C http://identifiers.org/clinvar/387482 ^@ NM_000548.4(TSC2):c.1977C>T (p.Thr659=) http://identifiers.org/clinvar/391310 ^@ NM_000257.3(MYH7):c.2436G>A (p.Leu812=) http://identifiers.org/clinvar/391360 ^@ NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg) http://identifiers.org/clinvar/378087 ^@ NM_001144869.2(LIPT2):c.466+14A>C http://identifiers.org/clinvar/380436 ^@ NM_002693.2(POLG):c.3105-8T>A http://identifiers.org/clinvar/380285 ^@ NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) http://identifiers.org/clinvar/391560 ^@ NM_000548.4(TSC2):c.1083G>A (p.Leu361=) http://identifiers.org/clinvar/377635 ^@ NM_004933.2(CDH15):c.2324G>A (p.Arg775Gln) http://identifiers.org/clinvar/389321 ^@ NM_000833.4(GRIN2A):c.468G>T (p.Thr156=) http://identifiers.org/clinvar/47947 ^@ NM_144612.6(LOXHD1):c.5667G>A (p.Lys1889=) http://identifiers.org/clinvar/47998 ^@ NM_005709.3(USH1C):c.1441G>A (p.Val481Ile) http://identifiers.org/clinvar/48049 ^@ NM_170707.3(LMNA):c.1751G>A (p.Arg584His) http://identifiers.org/clinvar/48099 ^@ NM_000503.5(EYA1):c.1122delA (p.Leu374Phefs) http://identifiers.org/clinvar/48149 ^@ NM_001195794.1(CLRN1):c.9C>A (p.Ser3Arg) http://identifiers.org/clinvar/48199 ^@ NM_194248.2(OTOF):c.245G>A (p.Arg82His) http://identifiers.org/clinvar/48249 ^@ NM_194248.2(OTOF):c.509+10A>G http://identifiers.org/clinvar/48299 ^@ NM_198056.2(SCN5A):c.3347G>A (p.Arg1116Gln) http://identifiers.org/clinvar/48350 ^@ NM_206933.2(USH2A):c.10524C>A (p.Thr3508=) http://identifiers.org/clinvar/48400 ^@ NM_206933.2(USH2A):c.12557T>C (p.Ile4186Thr) http://identifiers.org/clinvar/48450 ^@ NM_206933.2(USH2A):c.14928C>G (p.Gly4976=) http://identifiers.org/clinvar/48501 ^@ NM_206933.2(USH2A):c.3405G>C (p.Arg1135Ser) http://identifiers.org/clinvar/59 ^@ NM_006642.3(SDCCAG8):c.1946_1949delGTGT (p.Cys649Serfs) http://identifiers.org/clinvar/179 ^@ NM_000274.3(OAT):c.533G>A (p.Trp178Ter) http://identifiers.org/clinvar/188 ^@ NM_001017995.2(SH3PXD2B):c.147dupT (p.Asp50Terfs) http://identifiers.org/clinvar/197 ^@ NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) http://identifiers.org/clinvar/269 ^@ NM_001134363.2(RBM20):c.1901G>A (p.Arg634Gln) http://identifiers.org/clinvar/325 ^@ NEXN, 3-BP DEL, 1948GGA http://identifiers.org/clinvar/339 ^@ NM_000267.3(NF1):c.6427C>A (p.Leu2143Met) http://identifiers.org/clinvar/348 ^@ NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) http://identifiers.org/clinvar/549 ^@ NM_000140.3(FECH):c.801G>A (p.Met267Ile) http://identifiers.org/clinvar/599 ^@ NM_000277.1(PAH):c.842+1G>A http://identifiers.org/clinvar/712 ^@ GALNS, 1-BP DEL, 1374T http://identifiers.org/clinvar/735 ^@ NM_001131034.3(RNF212):c.172-4654T>C http://identifiers.org/clinvar/744 ^@ NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) http://identifiers.org/clinvar/753 ^@ NM_015575.3(GIGYF2):c.167A>G (p.Asn56Ser) http://identifiers.org/clinvar/762 ^@ NM_015702.2(MMADHC):c.545C>A (p.Thr182Asn) http://identifiers.org/clinvar/771 ^@ NM_198488.3(FAM83H):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/812 ^@ NM_000038.5(APC):c.4391_4394delAGAG (p.Glu1464Valfs) http://identifiers.org/clinvar/863 ^@ NM_013319.2(UBIAD1):c.556G>A (p.Gly186Arg) http://identifiers.org/clinvar/959 ^@ NG_009846.1:g.103171_225796del http://identifiers.org/clinvar/982 ^@ NM_024782.2(NHEJ1):c.367T>C (p.Cys123Arg) http://identifiers.org/clinvar/1186 ^@ NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) http://identifiers.org/clinvar/1230 ^@ NM_152419.2(HGSNAT):c.493+1G>A http://identifiers.org/clinvar/1281 ^@ DOK7, IVS3DS, G-T, +1 http://identifiers.org/clinvar/1326 ^@ NM_024296.4(CCDC28B):c.330C>T (p.Phe110=) http://identifiers.org/clinvar/1371 ^@ NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys) http://identifiers.org/clinvar/1417 ^@ NM_001041.3(SI):c.5234T>G (p.Phe1745Cys) http://identifiers.org/clinvar/1462 ^@ NM_000190.3(HMBS):c.601C>T (p.Arg201Trp) http://identifiers.org/clinvar/1507 ^@ NM_000298.5(PKLR):c.1151C>T (p.Thr384Met) http://identifiers.org/clinvar/1553 ^@ NM_000237.2(LPL):c.1334G>A (p.Cys445Tyr) http://identifiers.org/clinvar/1599 ^@ NM_020937.2(FANCM):c.4222+1978_4300del http://identifiers.org/clinvar/1648 ^@ NM_018105.2(THAP1):c.266A>G (p.Lys89Arg) http://identifiers.org/clinvar/1693 ^@ NM_015965.6(NDUFA13):c.15G>C (p.Lys5Asn) http://identifiers.org/clinvar/1739 ^@ NM_001017420.2(ESCO2):c.1269G>A (p.Trp423Ter) http://identifiers.org/clinvar/1834 ^@ NM_001023570.3(IQCB1):c.1069C>T (p.Gln357Ter) http://identifiers.org/clinvar/1924 ^@ NM_022132.4(MCCC2):c.803G>C (p.Arg268Thr) http://identifiers.org/clinvar/2459 ^@ NM_174934.3(SCN4B):c.535C>T (p.Leu179Phe) http://identifiers.org/clinvar/2504 ^@ NM_172364.4(CACNA2D4):c.2406C>A (p.Tyr802Ter) http://identifiers.org/clinvar/2552 ^@ NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) http://identifiers.org/clinvar/2599 ^@ NM_058172.5(ANTXR2):c.1142A>G (p.Tyr381Cys) http://identifiers.org/clinvar/2644 ^@ NM_000391.3(TPP1):c.509-1G>C http://identifiers.org/clinvar/2736 ^@ NM_004183.3(BEST1):c.436_437delGCinsAA (p.Ala146Lys) http://identifiers.org/clinvar/2781 ^@ NM_000158.3(GBE1):c.1570C>T (p.Arg524Ter) http://identifiers.org/clinvar/2826 ^@ NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) http://identifiers.org/clinvar/2871 ^@ NM_001171507.2(MCFD2):c.407T>C (p.Ile136Thr) http://identifiers.org/clinvar/2917 ^@ NM_173477.4(USH1G):c.394dupG (p.Val132Glyfs) http://identifiers.org/clinvar/2962 ^@ NM_000271.4(NPC1):c.2665G>A (p.Val889Met) http://identifiers.org/clinvar/3007 ^@ NM_000226.3(KRT9):c.511G>A (p.Val171Met) http://identifiers.org/clinvar/3056 ^@ ARSA, 1-BP DEL, 447C http://identifiers.org/clinvar/3101 ^@ NM_005670.3(EPM2A):c.335dupA (p.Tyr112Terfs) http://identifiers.org/clinvar/3156 ^@ MMAA, 4-BP DEL, 592ACTG http://identifiers.org/clinvar/3201 ^@ NM_006731.2(FKTN):c.187_188delAT (p.Met63Valfs) http://identifiers.org/clinvar/3296 ^@ NM_000268.3(NF2):c.1579G>T (p.Glu527Ter) http://identifiers.org/clinvar/3340 ^@ NM_000348.3(SRD5A2):c.344G>A (p.Gly115Asp) http://identifiers.org/clinvar/11360 ^@ BTK, 1-BP DEL, CODON 218, A http://identifiers.org/clinvar/11405 ^@ NM_015884.3(MBTPS2):c.1424T>C (p.Phe475Ser) http://identifiers.org/clinvar/11972 ^@ NM_000108.4(DLD):c.1081A>G (p.Met361Val) http://identifiers.org/clinvar/12024 ^@ NM_000282.3(PCCA):c.1118T>A (p.Met373Lys) http://identifiers.org/clinvar/12074 ^@ F7, IVS4DS, G-A, +1 http://identifiers.org/clinvar/12124 ^@ NM_000204.4(CFI):c.728G>A (p.Gly243Asp) http://identifiers.org/clinvar/12177 ^@ CYP21A2, IVS2, A-G, -2 http://identifiers.org/clinvar/12229 ^@ NM_001692.3(ATP6V1B1):c.232G>A (p.Gly78Arg) http://identifiers.org/clinvar/12280 ^@ UGT1A1*6 http://identifiers.org/clinvar/12332 ^@ TH, 1-BP DEL, 291C http://identifiers.org/clinvar/12383 ^@ NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) http://identifiers.org/clinvar/12434 ^@ NM_000363.4(TNNI3):c.61C>T (p.Arg21Cys) http://identifiers.org/clinvar/12485 ^@ NM_000359.2(TGM1):c.425G>A (p.Arg142His) http://identifiers.org/clinvar/12535 ^@ NM_001128177.1(THRB):c.1033G>C (p.Gly345Arg) http://identifiers.org/clinvar/12585 ^@ NM_004985.4(KRAS):c.27_29dupTGG (p.Gly10_Ala11insGly) http://identifiers.org/clinvar/12636 ^@ HNF1B, 75-BP DEL, NT409 http://identifiers.org/clinvar/12687 ^@ NM_000549.4(TSHB):c.205C>T (p.Gln69Ter) http://identifiers.org/clinvar/12738 ^@ NM_198253.2(TERT):c.219+1G>A http://identifiers.org/clinvar/12788 ^@ NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) http://identifiers.org/clinvar/12838 ^@ NP_000338.3:p.Leu1492_Lys1614del http://identifiers.org/clinvar/12889 ^@ NM_001165963.1(SCN1A):c.664C>T (p.Arg222Ter) http://identifiers.org/clinvar/13194 ^@ PYCR1, 3-BP DEL, NT797+2 http://identifiers.org/clinvar/13244 ^@ NM_002739.4(PRKCG):c.301C>T (p.His101Tyr) http://identifiers.org/clinvar/13295 ^@ NM_000141.4(FGFR2):c.1576A>G (p.Lys526Glu) http://identifiers.org/clinvar/13346 ^@ NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) http://identifiers.org/clinvar/39065 ^@ NM_024312.4(GNPTAB):c.3091C>T (p.Arg1031Ter) http://identifiers.org/clinvar/39122 ^@ NM_198253.2(TERT):c.3329C>T (p.Thr1110Met) http://identifiers.org/clinvar/39172 ^@ NM_198578.3(LRRK2):c.3683G>T (p.Ser1228Ile) http://identifiers.org/clinvar/39222 ^@ NM_198578.3(LRRK2):c.6324G>A (p.Glu2108=) http://identifiers.org/clinvar/39273 ^@ NM_207352.3(CYP4V2):c.971A>T (p.Asp324Val) http://identifiers.org/clinvar/39435 ^@ NM_007171.3(POMT1):c.1241C>T (p.Thr414Met) http://identifiers.org/clinvar/39487 ^@ AGXT, 1-BP INS, 33C http://identifiers.org/clinvar/39537 ^@ NM_000359.2(TGM1):c.1223_1227delACACA (p.Asp408Valfs) http://identifiers.org/clinvar/39587 ^@ NM_001145661.1(GATA2):c.1017+513_1017+540del28 http://identifiers.org/clinvar/39639 ^@ NM_144577.3(CCDC114):c.487-2A>G http://identifiers.org/clinvar/39691 ^@ HS6ST1, ARG296GLN http://identifiers.org/clinvar/39741 ^@ NM_152415.2(VPS37A):c.1146A>T (p.Lys382Asn) http://identifiers.org/clinvar/39792 ^@ NM_001083614.1(EARS2):c.500G>A (p.Cys167Tyr) http://identifiers.org/clinvar/39843 ^@ CYP26C1, 7-BP DUP, NT844 http://identifiers.org/clinvar/39993 ^@ NM_001291415.1(KDM6A):c.1711C>T (p.Arg571Ter) http://identifiers.org/clinvar/40130 ^@ NM_004625.3(WNT7A):c.664C>T (p.Arg222Trp) http://identifiers.org/clinvar/40250 ^@ NM_025099.5(CTC1):c.2954_2956delGTT (p.Cys985del) http://identifiers.org/clinvar/40383 ^@ NM_004333.4(BRAF):c.1695T>G (p.Asp565Glu) http://identifiers.org/clinvar/40447 ^@ NM_005343.3(HRAS):c.508A>T (p.Lys170Ter) http://identifiers.org/clinvar/41167 ^@ NM_003977.3(AIP):c.241C>T (p.Arg81Ter) http://identifiers.org/clinvar/51127 ^@ NM_000059.3(BRCA2):c.1449_1451delAGTinsTTAC (p.Val484Tyrfs) http://identifiers.org/clinvar/51178 ^@ NM_000059.3(BRCA2):c.1711_1715delTCTGT (p.Val572Phefs) http://identifiers.org/clinvar/51230 ^@ NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) http://identifiers.org/clinvar/52702 ^@ NM_000059.3(BRCA2):c.8917C>G (p.Arg2973Gly) http://identifiers.org/clinvar/52753 ^@ NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) http://identifiers.org/clinvar/52804 ^@ NM_000059.3(BRCA2):c.927A>G (p.Ser309=) http://identifiers.org/clinvar/52855 ^@ NM_000059.3(BRCA2):c.9501G>A (p.Glu3167=) http://identifiers.org/clinvar/52905 ^@ NM_000059.3(BRCA2):c.9838C>T (p.Pro3280Ser) http://identifiers.org/clinvar/52955 ^@ NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) http://identifiers.org/clinvar/53005 ^@ NM_000218.2(KCNQ1):c.1697C>A (p.Ser566Tyr) http://identifiers.org/clinvar/53055 ^@ NM_000218.2(KCNQ1):c.506C>G (p.Thr169Arg) http://identifiers.org/clinvar/53105 ^@ NM_000218.2(KCNQ1):c.784C>G (p.Leu262Val) http://identifiers.org/clinvar/53157 ^@ NM_000492.3(CFTR):c.-4G>C http://identifiers.org/clinvar/53209 ^@ NM_000492.3(CFTR):c.1181T>G (p.Met394Arg) http://identifiers.org/clinvar/53261 ^@ NM_000492.3(CFTR):c.1471T>C (p.Cys491Arg) http://identifiers.org/clinvar/53312 ^@ NM_000492.3(CFTR):c.1648G>T (p.Gly550Ter) http://identifiers.org/clinvar/53362 ^@ NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) http://identifiers.org/clinvar/53412 ^@ NM_000492.3(CFTR):c.1900C>T (p.Gln634Ter) http://identifiers.org/clinvar/53464 ^@ NM_000492.3(CFTR):c.2259C>T (p.Ser753=) http://identifiers.org/clinvar/53517 ^@ NM_000492.3(CFTR):c.2591_2592delTT (p.Ile864Metfs) http://identifiers.org/clinvar/53567 ^@ NM_000492.3(CFTR):c.2777delT (p.Leu926Cysfs) http://identifiers.org/clinvar/53618 ^@ NM_000492.3(CFTR):c.2997_3000delAATT (p.Ile1000Terfs) http://identifiers.org/clinvar/53669 ^@ NM_000492.3(CFTR):c.3176T>G (p.Leu1059Ter) http://identifiers.org/clinvar/53720 ^@ NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) http://identifiers.org/clinvar/53771 ^@ NM_000492.3(CFTR):c.3556C>T (p.Gln1186Ter) http://identifiers.org/clinvar/53823 ^@ NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) http://identifiers.org/clinvar/53875 ^@ NM_000492.3(CFTR):c.4025_4028dupGGGG (p.Cys1344Glyfs) http://identifiers.org/clinvar/53926 ^@ NM_000492.3(CFTR):c.4234C>T (p.Gln1412Ter) http://identifiers.org/clinvar/53976 ^@ NM_000492.3(CFTR):c.494T>C (p.Leu165Ser) http://identifiers.org/clinvar/54026 ^@ NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) http://identifiers.org/clinvar/54078 ^@ NM_000492.3(CFTR):c.877C>A (p.Leu293Met) http://identifiers.org/clinvar/54128 ^@ NM_007294.3(BRCA1):c.1102G>T (p.Glu368Ter) http://identifiers.org/clinvar/54719 ^@ NM_007294.3(BRCA1):c.2921T>A (p.Leu974Ter) http://identifiers.org/clinvar/54769 ^@ NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter) http://identifiers.org/clinvar/54819 ^@ NM_007294.3(BRCA1):c.3286delC (p.Gln1096Lysfs) http://identifiers.org/clinvar/54869 ^@ NM_007294.3(BRCA1):c.3407C>G (p.Pro1136Arg) http://identifiers.org/clinvar/54919 ^@ NM_007294.3(BRCA1):c.3575_3576insAA (p.Phe1193Ilefs) http://identifiers.org/clinvar/54971 ^@ NM_007294.3(BRCA1):c.370A>G (p.Ile124Val) http://identifiers.org/clinvar/55022 ^@ NM_007294.3(BRCA1):c.3841C>T (p.Gln1281Ter) http://identifiers.org/clinvar/55072 ^@ NM_007294.3(BRCA1):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/55123 ^@ NM_007294.3(BRCA1):c.4172T>C (p.Ile1391Thr) http://identifiers.org/clinvar/55174 ^@ NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) http://identifiers.org/clinvar/55225 ^@ NM_007294.3(BRCA1):c.4534_4535delAG (p.Ser1512Leufs) http://identifiers.org/clinvar/55275 ^@ NM_007294.3(BRCA1):c.4739C>T (p.Ser1580Phe) http://identifiers.org/clinvar/55326 ^@ NM_007294.3(BRCA1):c.4941delC (p.Asn1647Lysfs) http://identifiers.org/clinvar/55376 ^@ NM_007294.3(BRCA1):c.5074G>T (p.Asp1692Tyr) http://identifiers.org/clinvar/55426 ^@ NM_007294.3(BRCA1):c.5152+4A>G http://identifiers.org/clinvar/55476 ^@ NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp) http://identifiers.org/clinvar/55529 ^@ NM_007294.3(BRCA1):c.5332+1delG http://identifiers.org/clinvar/55579 ^@ NM_007294.3(BRCA1):c.5440delG (p.Ala1814Profs) http://identifiers.org/clinvar/55629 ^@ NM_007294.3(BRCA1):c.5559C>A (p.Tyr1853Ter) http://identifiers.org/clinvar/55681 ^@ NM_007294.3(BRCA1):c.731delA (p.Asn244Metfs) http://identifiers.org/clinvar/55732 ^@ NM_007294.3(BRCA1):c.83T>C (p.Leu28Pro) http://identifiers.org/clinvar/55794 ^@ NM_004333.4(BRAF):c.1741A>C (p.Asn581His) http://identifiers.org/clinvar/55861 ^@ NM_015250.3(BICD2):c.1523A>C (p.Lys508Thr) http://identifiers.org/clinvar/55940 ^@ NM_000027.3(AGA):c.299G>A (p.Gly100Glu) http://identifiers.org/clinvar/55991 ^@ NM_000111.2(SLC26A3):c.2116delA (p.Ser706Alafs) http://identifiers.org/clinvar/56044 ^@ NM_000170.2(GLDC):c.1402-1G>C http://identifiers.org/clinvar/56095 ^@ NM_000170.2(GLDC):c.413A>T (p.Tyr138Phe) http://identifiers.org/clinvar/56149 ^@ NM_000243.2(MEFV):c.2305C>G (p.Pro769Ala) http://identifiers.org/clinvar/56610 ^@ NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) http://identifiers.org/clinvar/56664 ^@ NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) http://identifiers.org/clinvar/102464 ^@ NM_000277.1(PAH):c.1001G>C (p.Cys334Ser) http://identifiers.org/clinvar/102516 ^@ NM_000277.1(PAH):c.1087_1088delAA (p.Lys363Alafs) http://identifiers.org/clinvar/102572 ^@ NM_000277.1(PAH):c.1229T>G (p.Phe410Cys) http://identifiers.org/clinvar/102624 ^@ NM_000277.1(PAH):c.194T>G (p.Ile65Ser) http://identifiers.org/clinvar/102679 ^@ NM_000277.1(PAH):c.442-?_706+?del http://identifiers.org/clinvar/160348 ^@ NM_032237.4(POMK):c.288delT (p.Leu97Cysfs) http://identifiers.org/clinvar/160808 ^@ GRCh38/hg38 Xp22.33(chrX:2777300-2877956)x0 http://identifiers.org/clinvar/160859 ^@ GRCh38/hg38 19q11(chr19:27362299-27940935)x3 http://identifiers.org/clinvar/160911 ^@ GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 http://identifiers.org/clinvar/160963 ^@ GRCh38/hg38 8p22(chr8:13544227-14757731)x3 http://identifiers.org/clinvar/161014 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1 http://identifiers.org/clinvar/161064 ^@ GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3 http://identifiers.org/clinvar/161114 ^@ NM_005214.4(CTLA4):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/161193 ^@ NM_001114748.1(TMEM240):c.489C>G (p.Tyr163Ter) http://identifiers.org/clinvar/161346 ^@ NM_000313.3(PROS1):c.698G>A (p.Arg233Lys) http://identifiers.org/clinvar/161296 ^@ NM_001040108.1(MLH3):c.2449A>G (p.Ser817Gly) http://identifiers.org/clinvar/161246 ^@ NM_144606.5(FLCN):c.779G>A (p.Trp260Ter) http://identifiers.org/clinvar/177913 ^@ NM_206933.2(USH2A):c.14276G>A (p.Gly4759Glu) http://identifiers.org/clinvar/178115 ^@ NM_001035.2(RYR2):c.1939C>T (p.Arg647Cys) http://identifiers.org/clinvar/178165 ^@ NM_133378.4(TTN):c.89938C>T (p.Arg29980Cys) http://identifiers.org/clinvar/165885 ^@ NM_133378.4(TTN):c.58737C>T (p.Ala19579=) http://identifiers.org/clinvar/179273 ^@ NM_133378.4(TTN):c.56489T>G (p.Ile18830Ser) http://identifiers.org/clinvar/165736 ^@ NM_133378.4(TTN):c.84973A>G (p.Lys28325Glu) http://identifiers.org/clinvar/178215 ^@ NM_133379.4(TTN):c.*265+120028C>T http://identifiers.org/clinvar/166227 ^@ NM_001256850.1(TTN):c.13351G>A (p.Gly4451Ser) http://identifiers.org/clinvar/166277 ^@ NM_001256850.1(TTN):c.10360+1978T>A http://identifiers.org/clinvar/166079 ^@ NM_001267550.2(TTN):c.39819_39820delGCinsTT (p.Pro13274Ser) http://identifiers.org/clinvar/178265 ^@ NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser) http://identifiers.org/clinvar/166327 ^@ NM_133378.4(TTN):c.3523+9A>C http://identifiers.org/clinvar/178015 ^@ NM_001927.3(DES):c.635G>A (p.Arg212Gln) http://identifiers.org/clinvar/165971 ^@ NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) http://identifiers.org/clinvar/179223 ^@ NM_002880.3(RAF1):c.1063A>G (p.Ile355Val) http://identifiers.org/clinvar/179173 ^@ NM_006218.3(PIK3CA):c.3129G>A (p.Met1043Ile) http://identifiers.org/clinvar/179423 ^@ NM_004415.3(DSP):c.5304G>C (p.Gly1768=) http://identifiers.org/clinvar/177813 ^@ NM_005228.4(EGFR):c.2237_2256del20insTC (p.Glu746_Ser752delinsVal) http://identifiers.org/clinvar/177662 ^@ NM_005228.4(EGFR):c.2311_2312insCAC (p.Asn771delinsThrHis) http://identifiers.org/clinvar/163967 ^@ NM_001038603.2(MARVELD2):c.592G>A (p.Val198Met) http://identifiers.org/clinvar/165059 ^@ NM_001010892.2(RSPH4A):c.731G>A (p.Arg244His) http://identifiers.org/clinvar/198892 ^@ NM_020247.4(COQ8A):c.957C>T (p.Asp319=) http://identifiers.org/clinvar/198945 ^@ NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter) http://identifiers.org/clinvar/198996 ^@ NM_000202.7(IDS):c.1227G>A (p.Thr409=) http://identifiers.org/clinvar/199047 ^@ NM_001023570.3(IQCB1):c.814C>G (p.Gln272Glu) http://identifiers.org/clinvar/199100 ^@ NM_004565.2(PEX14):c.1013_1014delACinsGT (p.Asp338Gly) http://identifiers.org/clinvar/199152 ^@ NM_018328.4(MBD5):c.1094C>T (p.Pro365Leu) http://identifiers.org/clinvar/199203 ^@ NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) http://identifiers.org/clinvar/199259 ^@ NM_004946.2(DOCK2):c.3970C>T (p.Gln1324Ter) http://identifiers.org/clinvar/217363 ^@ NM_130838.1(UBE3A):c.1697T>G (p.Met566Arg) http://identifiers.org/clinvar/200952 ^@ NM_170707.3(LMNA):c.179G>C (p.Arg60Pro) http://identifiers.org/clinvar/201201 ^@ NM_001035.2(RYR2):c.790G>C (p.Gly264Arg) http://identifiers.org/clinvar/199707 ^@ NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) http://identifiers.org/clinvar/201594 ^@ NM_198056.2(SCN5A):c.5458G>A (p.Ala1820Thr) http://identifiers.org/clinvar/201537 ^@ NM_198056.2(SCN5A):c.5378T>A (p.Met1793Lys) http://identifiers.org/clinvar/199872 ^@ NM_004415.3(DSP):c.2622C>G (p.Ile874Met) http://identifiers.org/clinvar/199929 ^@ NM_004415.3(DSP):c.8182dupG (p.Glu2728Glyfs) http://identifiers.org/clinvar/200513 ^@ NM_000238.3(KCNH2):c.3002G>A (p.Trp1001Ter) http://identifiers.org/clinvar/200753 ^@ NM_000238.3(KCNH2):c.1943G>A (p.Gly648Asp) http://identifiers.org/clinvar/200642 ^@ NM_000238.3(KCNH2):c.1701delC (p.Trp568Glyfs) http://identifiers.org/clinvar/200337 ^@ NM_000238.3(KCNH2):c.1330G>T (p.Glu444Ter) http://identifiers.org/clinvar/200218 ^@ NM_000238.3(KCNH2):c.1128+1784C>T http://identifiers.org/clinvar/201140 ^@ NM_020975.4(RET):c.2839delC (p.Leu947Terfs) http://identifiers.org/clinvar/200893 ^@ NM_000218.2(KCNQ1):c.969G>A (p.Trp323Ter) http://identifiers.org/clinvar/200838 ^@ NM_000218.2(KCNQ1):c.1049G>T (p.Gly350Val) http://identifiers.org/clinvar/200096 ^@ NM_000138.4(FBN1):c.6872-9A>G http://identifiers.org/clinvar/200044 ^@ NM_000138.4(FBN1):c.4437C>G (p.Asp1479Glu) http://identifiers.org/clinvar/200156 ^@ NM_000138.4(FBN1):c.2712_2716delAGGAA (p.Lys904Asnfs) http://identifiers.org/clinvar/199987 ^@ NM_000138.4(FBN1):c.2071G>C (p.Ala691Pro) http://identifiers.org/clinvar/201082 ^@ NM_002474.2(MYH11):c.5093C>T (p.Ala1698Val) http://identifiers.org/clinvar/201028 ^@ NM_002474.2(MYH11):c.3611C>T (p.Ala1204Val) http://identifiers.org/clinvar/199761 ^@ NM_024422.4(DSC2):c.536A>G (p.Asp179Gly) http://identifiers.org/clinvar/199818 ^@ NM_001943.4(DSG2):c.2690C>A (p.Ala897Asp) http://identifiers.org/clinvar/201651 ^@ NM_001103.3(ACTN2):c.2678A>G (p.Asp893Gly) http://identifiers.org/clinvar/201706 ^@ NM_001927.3(DES):c.1027G>A (p.Asp343Asn) http://identifiers.org/clinvar/203091 ^@ NM_001256850.1(TTN):c.100163T>G (p.Leu33388Trp) http://identifiers.org/clinvar/203041 ^@ NM_001256850.1(TTN):c.93997G>A (p.Ala31333Thr) http://identifiers.org/clinvar/202991 ^@ NM_001256850.1(TTN):c.88088G>A (p.Ser29363Asn) http://identifiers.org/clinvar/202941 ^@ NM_001256850.1(TTN):c.82565A>G (p.Lys27522Arg) http://identifiers.org/clinvar/202891 ^@ NM_001256850.1(TTN):c.74358C>G (p.Asp24786Glu) http://identifiers.org/clinvar/202841 ^@ NM_001256850.1(TTN):c.67633A>G (p.Lys22545Glu) http://identifiers.org/clinvar/202791 ^@ NM_001256850.1(TTN):c.60170G>T (p.Arg20057Leu) http://identifiers.org/clinvar/234162 ^@ NM_000038.5(APC):c.5099C>T (p.Ala1700Val) http://identifiers.org/clinvar/229730 ^@ NM_000038.5(APC):c.5576A>G (p.Asn1859Ser) http://identifiers.org/clinvar/231419 ^@ NM_000038.5(APC):c.5674G>A (p.Ala1892Thr) http://identifiers.org/clinvar/233862 ^@ NM_005732.3(RAD50):c.984A>G (p.Glu328=) http://identifiers.org/clinvar/232469 ^@ NM_005732.3(RAD50):c.1269T>C (p.Thr423=) http://identifiers.org/clinvar/232169 ^@ NM_004168.3(SDHA):c.1794+1G>A http://identifiers.org/clinvar/230280 ^@ NM_000535.6(PMS2):c.2362T>C (p.Phe788Leu) http://identifiers.org/clinvar/234212 ^@ NM_000535.6(PMS2):c.1059A>G (p.Ala353=) http://identifiers.org/clinvar/231519 ^@ NM_002485.4(NBN):c.1065C>T (p.Ser355=) http://identifiers.org/clinvar/231719 ^@ NM_002485.4(NBN):c.332A>C (p.Glu111Ala) http://identifiers.org/clinvar/232019 ^@ NM_004329.2(BMPR1A):c.257T>C (p.Ile86Thr) http://identifiers.org/clinvar/231319 ^@ NM_000051.3(ATM):c.18T>C (p.Asn6=) http://identifiers.org/clinvar/229880 ^@ NM_000051.3(ATM):c.4098_4099delTG (p.Cys1366Terfs) http://identifiers.org/clinvar/231669 ^@ NM_000051.3(ATM):c.5456C>T (p.Thr1819Ile) http://identifiers.org/clinvar/234112 ^@ NM_000051.3(ATM):c.5844T>C (p.Cys1948=) http://identifiers.org/clinvar/232269 ^@ NM_000051.3(ATM):c.6462A>G (p.Glu2154=) http://identifiers.org/clinvar/231619 ^@ NM_000051.3(ATM):c.6975+5G>T http://identifiers.org/clinvar/231769 ^@ NM_000051.3(ATM):c.8010+1delG http://identifiers.org/clinvar/230230 ^@ NM_000051.3(ATM):c.8720C>G (p.Pro2907Arg) http://identifiers.org/clinvar/231819 ^@ NM_000051.3(ATM):c.8950C>A (p.Leu2984Met) http://identifiers.org/clinvar/233409 ^@ NM_000059.3(BRCA2):c.857_860dupCAAT (p.Met287Ilefs) http://identifiers.org/clinvar/233709 ^@ NM_000059.3(BRCA2):c.4564T>C (p.Leu1522=) http://identifiers.org/clinvar/231219 ^@ NM_000059.3(BRCA2):c.6728C>G (p.Ser2243Cys) http://identifiers.org/clinvar/233359 ^@ NM_000059.3(BRCA2):c.7366C>T (p.Gln2456Ter) http://identifiers.org/clinvar/231569 ^@ NM_000059.3(BRCA2):c.8979_8982delATCAinsTGAT (p.Ser2994Asp) http://identifiers.org/clinvar/231919 ^@ NM_024675.3(PALB2):c.3114G>A (p.Trp1038Ter) http://identifiers.org/clinvar/234012 ^@ NM_024675.3(PALB2):c.308G>A (p.Gly103Glu) http://identifiers.org/clinvar/233761 ^@ NM_001042492.2(NF1):c.2286G>A (p.Leu762=) http://identifiers.org/clinvar/234062 ^@ NM_001042492.2(NF1):c.2409+2T>G http://identifiers.org/clinvar/229780 ^@ NM_001042492.2(NF1):c.4138G>C (p.Ala1380Pro) http://identifiers.org/clinvar/232119 ^@ NM_002878.3(RAD51D):c.255C>T (p.Gly85=) http://identifiers.org/clinvar/231469 ^@ NM_007294.3(BRCA1):c.519T>A (p.Pro173=) http://identifiers.org/clinvar/233459 ^@ NM_007294.3(BRCA1):c.248_250delTTG (p.Val83del) http://identifiers.org/clinvar/232219 ^@ NM_058216.2(RAD51C):c.363A>G (p.Thr121=) http://identifiers.org/clinvar/233509 ^@ NM_032043.2(BRIP1):c.2587T>C (p.Trp863Arg) http://identifiers.org/clinvar/231269 ^@ NM_032043.2(BRIP1):c.2488G>C (p.Gly830Arg) http://identifiers.org/clinvar/232069 ^@ NM_032043.2(BRIP1):c.867C>T (p.Val289=) http://identifiers.org/clinvar/235037 ^@ NM_000257.3(MYH7):c.773T>C (p.Leu258Ser) http://identifiers.org/clinvar/234986 ^@ NM_024422.4(DSC2):c.2251-5T>G http://identifiers.org/clinvar/235087 ^@ NM_023110.2(FGFR1):c.1977+1G>A http://identifiers.org/clinvar/235223 ^@ NM_203447.3(DOCK8):c.952G>A (p.Ala318Thr) http://identifiers.org/clinvar/235330 ^@ NM_000789.3(ACE):c.1608_1609insCAGTTC (p.Phe540_His541insGlnPhe) http://identifiers.org/clinvar/236226 ^@ NM_016111.3(TELO2):c.2159A>T (p.Asp720Val) http://identifiers.org/clinvar/236296 ^@ NM_198578.3(LRRK2):c.6929C>T (p.Thr2310Met) http://identifiers.org/clinvar/236347 ^@ NC_000002.10:g.172194538_172381699dup187162 http://identifiers.org/clinvar/236397 ^@ NC_000015.9:g.22528723_23300172dup771450 http://identifiers.org/clinvar/236448 ^@ NM_001142800.1(EYS):c.6137G>A (p.Trp2046Ter) http://identifiers.org/clinvar/236498 ^@ NM_018418.4(SPATA7):c.1241_1252delTCCTGAAAGTAG (p.Val414_Val417del) http://identifiers.org/clinvar/236548 ^@ GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614) http://identifiers.org/clinvar/239448 ^@ NM_003001.3(SDHC):c.128A>G (p.Asn43Ser) http://identifiers.org/clinvar/239798 ^@ NM_004304.4(ALK):c.1917C>T (p.Ser639=) http://identifiers.org/clinvar/239848 ^@ NM_004304.4(ALK):c.645T>C (p.Leu215=) http://identifiers.org/clinvar/239145 ^@ NM_002354.2(EPCAM):c.921G>A (p.Glu307=) http://identifiers.org/clinvar/237404 ^@ NM_000251.2(MSH2):c.725A>G (p.Asn242Ser) http://identifiers.org/clinvar/237153 ^@ NM_000179.2(MSH6):c.2210C>G (p.Ala737Gly) http://identifiers.org/clinvar/237204 ^@ NM_000179.2(MSH6):c.3988C>T (p.Leu1330=) http://identifiers.org/clinvar/237354 ^@ NM_000249.3(MLH1):c.988A>G (p.Ile330Val) http://identifiers.org/clinvar/237304 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTA http://identifiers.org/clinvar/240048 ^@ NM_004656.3(BAP1):c.1427T>C (p.Val476Ala) http://identifiers.org/clinvar/240349 ^@ NM_006206.4(PDGFRA):c.380C>G (p.Ala127Gly) http://identifiers.org/clinvar/240299 ^@ NM_006206.4(PDGFRA):c.1282A>G (p.Thr428Ala) http://identifiers.org/clinvar/237254 ^@ NM_000222.2(KIT):c.2118T>G (p.Leu706=) http://identifiers.org/clinvar/236598 ^@ NM_000038.5(APC):c.448A>T (p.Lys150Ter) http://identifiers.org/clinvar/236648 ^@ NM_000038.5(APC):c.764A>G (p.His255Arg) http://identifiers.org/clinvar/239648 ^@ NM_004168.3(SDHA):c.1432+1G>C http://identifiers.org/clinvar/240199 ^@ NM_005670.3(EPM2A):c.210G>A (p.Glu70=) http://identifiers.org/clinvar/238944 ^@ NM_001277115.1(DNAH11):c.9707G>A (p.Arg3236Gln) http://identifiers.org/clinvar/257058 ^@ NM_001017995.2(SH3PXD2B):c.563-11T>C http://identifiers.org/clinvar/263047 ^@ NM_182925.4(FLT4):c.3220-11T>C http://identifiers.org/clinvar/259247 ^@ NM_004168.3(SDHA):c.622-13delT http://identifiers.org/clinvar/262347 ^@ NM_133433.3(NIPBL):c.3574+20A>C http://identifiers.org/clinvar/257358 ^@ NM_001080479.2(ARHGEF28):c.1631C>T (p.Ser544Leu) http://identifiers.org/clinvar/262797 ^@ NM_170724.2(PKHD1):c.7734-20dupT http://identifiers.org/clinvar/262397 ^@ NM_138694.3(PKHD1):c.2822-40G>A http://identifiers.org/clinvar/259347 ^@ NM_004370.5(COL12A1):c.7786A>G (p.Ile2596Val) http://identifiers.org/clinvar/255419 ^@ NM_000168.5(GLI3):c.1243-40A>C http://identifiers.org/clinvar/263097 ^@ NM_194456.1(KRIT1):c.1809T>C (p.His603=) http://identifiers.org/clinvar/259197 ^@ NM_003919.2(SGCE):c.369G>C (p.Val123=) http://identifiers.org/clinvar/255169 ^@ NM_000127.2(EXT1):c.114A>G (p.Glu38=) http://identifiers.org/clinvar/258997 ^@ NM_003235.4(TG):c.5921T>C (p.Met1974Thr) http://identifiers.org/clinvar/256708 ^@ NM_000553.4(WRN):c.3234-130T>C http://identifiers.org/clinvar/262647 ^@ NM_152419.2(HGSNAT):c.493+46G>T http://identifiers.org/clinvar/262747 ^@ NM_153704.5(TMEM67):c.2661+3A>G http://identifiers.org/clinvar/256858 ^@ NM_001003722.1(GLE1):c.1647-44A>G http://identifiers.org/clinvar/262447 ^@ NM_139025.4(ADAMTS13):c.357C>T (p.Ser119=) http://identifiers.org/clinvar/255069 ^@ NM_000093.4(COL5A1):c.2701-22C>T http://identifiers.org/clinvar/262847 ^@ NM_173551.4(ANKS6):c.1930G>A (p.Val644Ile) http://identifiers.org/clinvar/257408 ^@ NM_001083116.1(PRF1):c.822C>T (p.Ala274=) http://identifiers.org/clinvar/256658 ^@ NM_000552.4(VWF):c.2282-42C>A http://identifiers.org/clinvar/254769 ^@ NM_000053.3(ATP7B):c.3557-7G>A http://identifiers.org/clinvar/257108 ^@ NM_001024858.2(SPTB):c.3451A>G (p.Asn1151Asp) http://identifiers.org/clinvar/254869 ^@ NM_000070.2(CAPN3):c.2381-12A>G http://identifiers.org/clinvar/262897 ^@ NM_174916.2(UBR1):c.5205A>G (p.Gln1735=) http://identifiers.org/clinvar/335644 ^@ NM_001029883.2(C2orf71):c.2965C>G (p.Pro989Ala) http://identifiers.org/clinvar/335094 ^@ NM_004369.3(COL6A3):c.*285A>G http://identifiers.org/clinvar/335244 ^@ NM_004321.7(KIF1A):c.*830C>T http://identifiers.org/clinvar/336044 ^@ NM_022436.2(ABCG5):c.1082C>G (p.Ser361Cys) http://identifiers.org/clinvar/335344 ^@ NM_152783.4(D2HGDH):c.*661C>T http://identifiers.org/clinvar/336194 ^@ NM_000341.3(SLC3A1):c.788G>C (p.Ser263Thr) http://identifiers.org/clinvar/336501 ^@ NM_001135659.2(NRXN1):c.*2672_*2675dupTTAG http://identifiers.org/clinvar/335844 ^@ NM_014946.3(SPAST):c.*382G>A http://identifiers.org/clinvar/336701 ^@ NM_002618.3(PEX13):c.*2168A>T http://identifiers.org/clinvar/336751 ^@ NM_015910.5(WDPCP):c.*541C>G http://identifiers.org/clinvar/335994 ^@ NM_005633.3(SOS1):c.*1516G>A http://identifiers.org/clinvar/333903 ^@ NM_015040.3(PIKFYVE):c.2549C>T (p.Ala850Val) http://identifiers.org/clinvar/333953 ^@ NM_015040.3(PIKFYVE):c.*1090A>G http://identifiers.org/clinvar/336901 ^@ NM_001002755.2(NFU1):c.-175G>T http://identifiers.org/clinvar/336144 ^@ NM_133259.3(LRPPRC):c.4156C>G (p.Leu1386Val) http://identifiers.org/clinvar/334104 ^@ NM_000384.2(APOB):c.10929T>C (p.Ser3643=) http://identifiers.org/clinvar/336294 ^@ NM_001430.4(EPAS1):c.*594A>G http://identifiers.org/clinvar/336401 ^@ NM_002354.2(EPCAM):c.-203C>G http://identifiers.org/clinvar/337301 ^@ NM_198843.2(SFTPB):c.964G>A (p.Gly322Arg) http://identifiers.org/clinvar/334054 ^@ NM_001875.4(CPS1):c.*1068G>T http://identifiers.org/clinvar/337401 ^@ NM_004836.6(EIF2AK3):c.2532T>C (p.Ser844=) http://identifiers.org/clinvar/334154 ^@ NM_000384.2(APOB):c.3471T>C (p.Tyr1157=) http://identifiers.org/clinvar/334355 ^@ NM_004328.4(BCS1L):c.-14G>A http://identifiers.org/clinvar/336651 ^@ NM_001114636.1(FANCL):c.*296C>T http://identifiers.org/clinvar/334205 ^@ NM_173076.2(ABCA12):c.*881T>C http://identifiers.org/clinvar/334455 ^@ NM_001927.3(DES):c.*559G>A http://identifiers.org/clinvar/334255 ^@ NM_173076.2(ABCA12):c.2295G>A (p.Glu765=) http://identifiers.org/clinvar/334305 ^@ NM_015488.4(PNKD):c.-79C>A http://identifiers.org/clinvar/342281 ^@ NM_016247.3(IMPG2):c.*3619C>A http://identifiers.org/clinvar/337001 ^@ NM_015120.4(ALMS1):c.-53C>T http://identifiers.org/clinvar/342920 ^@ NM_015869.4(PPARG):c.240C>T (p.Asp80=) http://identifiers.org/clinvar/335544 ^@ NM_015636.3(EIF2B4):c.216A>C (p.Pro72=) http://identifiers.org/clinvar/335294 ^@ NM_000030.2(AGXT):c.165+12G>C http://identifiers.org/clinvar/335444 ^@ NM_194248.2(OTOF):c.2702C>T (p.Ser901Leu) http://identifiers.org/clinvar/335894 ^@ NM_001011.3(RPS7):c.-86C>T http://identifiers.org/clinvar/335944 ^@ NM_000104.3(CYP1B1):c.*350C>A http://identifiers.org/clinvar/335694 ^@ NM_004304.4(ALK):c.3375C>A (p.Gly1125=) http://identifiers.org/clinvar/336094 ^@ NM_022437.2(ABCG8):c.*141T>G http://identifiers.org/clinvar/335744 ^@ NM_000379.3(XDH):c.*912A>T http://identifiers.org/clinvar/343270 ^@ NM_052985.3(IFT122):c.3789+3A>G http://identifiers.org/clinvar/335794 ^@ NM_000379.3(XDH):c.825T>C (p.Phe275=) http://identifiers.org/clinvar/354436 ^@ NM_004385.4(VCAN):c.6943G>C (p.Val2315Leu) http://identifiers.org/clinvar/357336 ^@ NM_003221.3(TFAP2B):c.*2797delC http://identifiers.org/clinvar/354586 ^@ NM_002397.4(MEF2C):c.258+10C>T http://identifiers.org/clinvar/357786 ^@ NM_018368.3(LMBRD1):c.-117C>T http://identifiers.org/clinvar/357986 ^@ NM_004999.3(MYO6):c.-185G>T http://identifiers.org/clinvar/351049 ^@ NM_001369.2(DNAH5):c.8765G>A (p.Arg2922His) http://identifiers.org/clinvar/351549 ^@ NM_006846.3(SPINK5):c.*208C>G http://identifiers.org/clinvar/351649 ^@ NM_024577.3(SH3TC2):c.*15383C>A http://identifiers.org/clinvar/359075 ^@ NM_018238.3(AGK):c.*933C>T http://identifiers.org/clinvar/351899 ^@ NM_024577.3(SH3TC2):c.3303G>A (p.Arg1101=) http://identifiers.org/clinvar/359125 ^@ NM_000083.2(CLCN1):c.2550C>T (p.Tyr850=) http://identifiers.org/clinvar/359325 ^@ NM_016203.3(PRKAG2):c.*1021_*1022delTGinsGT http://identifiers.org/clinvar/352197 ^@ NM_001135243.1(TCOF1):c.774C>G (p.Pro258=) http://identifiers.org/clinvar/359575 ^@ NM_001101426.3(ISPD):c.*414T>G http://identifiers.org/clinvar/351999 ^@ NM_000440.2(PDE6A):c.498G>A (p.Val166=) http://identifiers.org/clinvar/352047 ^@ NM_000112.3(SLC26A2):c.*1146G>T http://identifiers.org/clinvar/359725 ^@ NM_032581.3(FAM126A):c.*3001A>G http://identifiers.org/clinvar/359775 ^@ NM_032581.3(FAM126A):c.991+11C>T http://identifiers.org/clinvar/360025 ^@ NM_002047.3(GARS):c.*145delC http://identifiers.org/clinvar/352397 ^@ NM_000337.5(SGCD):c.*4895G>A http://identifiers.org/clinvar/360075 ^@ NM_198428.2(BBS9):c.*110C>T http://identifiers.org/clinvar/352447 ^@ NM_000337.5(SGCD):c.*7816G>A http://identifiers.org/clinvar/357086 ^@ NM_001024630.3(RUNX2):c.-66-14G>T http://identifiers.org/clinvar/360875 ^@ NM_194456.1(KRIT1):c.*320C>T http://identifiers.org/clinvar/353386 ^@ NM_133433.3(NIPBL):c.6402A>G (p.Leu2134=) http://identifiers.org/clinvar/357536 ^@ NM_001723.5(DST):c.*413A>C http://identifiers.org/clinvar/357636 ^@ NM_183227.2(RAB23):c.*544G>A http://identifiers.org/clinvar/357686 ^@ NM_001142800.1(EYS):c.8326G>C (p.Val2776Leu) http://identifiers.org/clinvar/357736 ^@ NM_001142800.1(EYS):c.2023+15delT http://identifiers.org/clinvar/353286 ^@ NM_002185.3(IL7R):c.*1171G>A http://identifiers.org/clinvar/357836 ^@ NM_014989.5(RIMS1):c.942G>A (p.Arg314=) http://identifiers.org/clinvar/357936 ^@ NM_004415.3(DSP):c.36C>T (p.Asn12=) http://identifiers.org/clinvar/353736 ^@ NM_002203.3(ITGA2):c.614G>T (p.Gly205Val) http://identifiers.org/clinvar/361724 ^@ NM_014846.3(WASHC5):c.1340C>T (p.Ser447Leu) http://identifiers.org/clinvar/353886 ^@ NM_176806.3(MOCS2):c.-16C>A http://identifiers.org/clinvar/363813 ^@ NM_000318.2(PEX2):c.*91A>G http://identifiers.org/clinvar/363913 ^@ NM_002485.4(NBN):c.1444A>G (p.Arg482Gly) http://identifiers.org/clinvar/306360 ^@ NM_012193.3(FZD4):c.*3479C>G http://identifiers.org/clinvar/364313 ^@ NM_000035.3(ALDOB):c.401G>A (p.Arg134His) http://identifiers.org/clinvar/300316 ^@ NM_001083116.1(PRF1):c.*521C>A http://identifiers.org/clinvar/300366 ^@ NM_018344.5(SLC29A3):c.920G>A (p.Ser307Asn) http://identifiers.org/clinvar/364463 ^@ NM_005502.3(ABCA1):c.302+15A>T http://identifiers.org/clinvar/364513 ^@ NM_001079802.1(FKTN):c.*3156A>T http://identifiers.org/clinvar/364363 ^@ NM_005502.3(ABCA1):c.*614C>T http://identifiers.org/clinvar/300466 ^@ NM_022124.5(CDH23):c.8878G>A (p.Val2960Ile) http://identifiers.org/clinvar/364663 ^@ NM_000031.5(ALAD):c.-158_-155dupCCCC http://identifiers.org/clinvar/300666 ^@ NM_004273.4(CHST3):c.*4210T>C http://identifiers.org/clinvar/300716 ^@ NM_016065.3(MRPS16):c.*13T>C http://identifiers.org/clinvar/364563 ^@ NM_003640.4(IKBKAP):c.2958+10A>T http://identifiers.org/clinvar/300766 ^@ NM_002658.4(PLAU):c.*176G>T http://identifiers.org/clinvar/364963 ^@ NM_002316.3(LMX1B):c.*3098A>G http://identifiers.org/clinvar/364713 ^@ NM_012210.3(TRIM32):c.-124G>A http://identifiers.org/clinvar/364763 ^@ NM_018249.5(CDK5RAP2):c.2645T>C (p.Leu882Pro) http://identifiers.org/clinvar/301066 ^@ NM_007055.3(POLR3A):c.1771-5delC http://identifiers.org/clinvar/364913 ^@ NM_002316.3(LMX1B):c.*748C>T http://identifiers.org/clinvar/365213 ^@ NM_000113.2(TOR1A):c.*934A>G http://identifiers.org/clinvar/365363 ^@ NM_015046.5(SETX):c.2779A>G (p.Met927Val) http://identifiers.org/clinvar/365063 ^@ NM_003165.3(STXBP1):c.*1057A>G http://identifiers.org/clinvar/301266 ^@ NM_033100.3(CDHR1):c.*245C>T http://identifiers.org/clinvar/365113 ^@ NM_003863.3(DPM2):c.197-5C>T http://identifiers.org/clinvar/365513 ^@ NM_000368.4(TSC1):c.2626-3delC http://identifiers.org/clinvar/301416 ^@ NM_000314.6(PTEN):c.-246C>T http://identifiers.org/clinvar/301466 ^@ NM_000314.6(PTEN):c.*1572C>T http://identifiers.org/clinvar/301566 ^@ NM_000235.3(LIPA):c.*534T>C http://identifiers.org/clinvar/365663 ^@ NM_000787.3(DBH):c.1493C>T (p.Thr498Met) http://identifiers.org/clinvar/365313 ^@ NM_015046.5(SETX):c.*1523A>G http://identifiers.org/clinvar/309059 ^@ NM_003482.3(KMT2D):c.5257_5259delAAG (p.Lys1753del) http://identifiers.org/clinvar/365563 ^@ NM_139025.4(ADAMTS13):c.3417G>T (p.Val1139=) http://identifiers.org/clinvar/298427 ^@ NM_004376.6(COX15):c.-232C>T http://identifiers.org/clinvar/310109 ^@ NM_001065.3(TNFRSF1A):c.823C>T (p.Pro275Ser) http://identifiers.org/clinvar/310209 ^@ NM_002076.3(GNS):c.459+14T>C http://identifiers.org/clinvar/310509 ^@ NM_002469.2(MYF6):c.709G>C (p.Glu237Gln) http://identifiers.org/clinvar/302755 ^@ NM_001382.3(DPAGT1):c.-265C>A http://identifiers.org/clinvar/366753 ^@ NM_032634.3(PIGO):c.3118G>A (p.Val1040Ile) http://identifiers.org/clinvar/366853 ^@ NM_012203.1(GRHPR):c.308C>T (p.Thr103Ile) http://identifiers.org/clinvar/366603 ^@ NM_001497.3(B4GALT1):c.*2490C>T http://identifiers.org/clinvar/303055 ^@ NM_006918.4(SC5D):c.447C>T (p.Arg149=) http://identifiers.org/clinvar/340480 ^@ NM_006031.5(PCNT):c.2724C>G (p.His908Gln) http://identifiers.org/clinvar/314392 ^@ NM_001040108.1(MLH3):c.206T>C (p.Val69Ala) http://identifiers.org/clinvar/340531 ^@ NM_006031.5(PCNT):c.7913+4C>T http://identifiers.org/clinvar/312703 ^@ NM_022489.3(INF2):c.2848C>T (p.Arg950Trp) http://identifiers.org/clinvar/312753 ^@ NM_000270.3(PNP):c.*1222C>T http://identifiers.org/clinvar/314642 ^@ NM_004863.3(SPTLC2):c.*1221A>G http://identifiers.org/clinvar/314692 ^@ NM_000369.2(TSHR):c.357T>A (p.Pro119=) http://identifiers.org/clinvar/341031 ^@ NM_022081.5(HPS4):c.-479+5G>A http://identifiers.org/clinvar/322527 ^@ NM_001045.5(SLC6A4):c.*242G>A http://identifiers.org/clinvar/314892 ^@ NM_006329.3(FBLN5):c.-441delC http://identifiers.org/clinvar/341231 ^@ NM_000343.3(SLC5A1):c.-36G>A http://identifiers.org/clinvar/314942 ^@ NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) http://identifiers.org/clinvar/314992 ^@ NM_004239.4(TRIP11):c.-335G>A http://identifiers.org/clinvar/341431 ^@ NM_004737.5(LARGE1):c.2208G>A (p.Gln736=) http://identifiers.org/clinvar/315092 ^@ NM_177438.2(DICER1):c.*525T>C http://identifiers.org/clinvar/315292 ^@ NM_139057.3(ADAMTS17):c.1398G>A (p.Pro466=) http://identifiers.org/clinvar/341581 ^@ NM_153609.3(TMPRSS6):c.2085C>G (p.Phe695Leu) http://identifiers.org/clinvar/322877 ^@ NM_004937.2(CTNS):c.*1053T>G http://identifiers.org/clinvar/315392 ^@ NM_144599.4(NIPA1):c.*1927A>G http://identifiers.org/clinvar/315342 ^@ NM_144599.4(NIPA1):c.*4895A>G http://identifiers.org/clinvar/315542 ^@ NM_133647.1(SLC12A6):c.*3842G>T http://identifiers.org/clinvar/342131 ^@ NM_005138.2(SCO2):c.-83A>G http://identifiers.org/clinvar/342231 ^@ NM_000487.5(ARSA):c.*130C>A http://identifiers.org/clinvar/323927 ^@ NM_018129.3(PNPO):c.*904A>G http://identifiers.org/clinvar/314342 ^@ NM_014239.3(EIF2B2):c.*180G>C http://identifiers.org/clinvar/316381 ^@ NM_000138.4(FBN1):c.2979C>T (p.Cys993=) http://identifiers.org/clinvar/314492 ^@ NM_004452.3(ESRRB):c.*241T>C http://identifiers.org/clinvar/314542 ^@ NM_013382.5(POMT2):c.*605C>T http://identifiers.org/clinvar/316581 ^@ NM_182758.3(WDR72):c.3149-14_3149-9dupCTCTCT http://identifiers.org/clinvar/316731 ^@ NM_016630.6(SPG21):c.-241G>A http://identifiers.org/clinvar/314742 ^@ NM_000153.3(GALC):c.*395C>T http://identifiers.org/clinvar/316781 ^@ NM_004727.2(SLC24A1):c.-164C>T http://identifiers.org/clinvar/314842 ^@ NM_018319.3(TDP1):c.*77C>T http://identifiers.org/clinvar/317031 ^@ NM_014249.3(NR2E3):c.*566A>C http://identifiers.org/clinvar/317081 ^@ NM_022369.3(STRA6):c.*426G>A http://identifiers.org/clinvar/325025 ^@ NM_023036.4(DNAI2):c.*19G>A http://identifiers.org/clinvar/325125 ^@ NM_001005731.2(ITGB4):c.708C>T (p.Phe236=) http://identifiers.org/clinvar/315642 ^@ NM_018648.3(NOP10):c.-57C>T http://identifiers.org/clinvar/315242 ^@ NM_139057.3(ADAMTS17):c.*116T>C http://identifiers.org/clinvar/325675 ^@ NM_138793.3(CANT1):c.*1056T>C http://identifiers.org/clinvar/371847 ^@ NM_000535.6(PMS2):c.903+20_903+21delGT http://identifiers.org/clinvar/371797 ^@ NM_024675.3(PALB2):c.2576C>A (p.Ser859Ter) http://identifiers.org/clinvar/371947 ^@ NM_007294.3(BRCA1):c.-19-1G>A http://identifiers.org/clinvar/372097 ^@ NM_032043.2(BRIP1):c.1140+11G>A http://identifiers.org/clinvar/371997 ^@ NM_001256849.1(POLD1):c.2565-17G>A http://identifiers.org/clinvar/372047 ^@ NM_001256849.1(POLD1):c.3120+12G>A http://identifiers.org/clinvar/372159 ^@ NM_003055.2(SLC18A3):c.557G>C (p.Gly186Ala) http://identifiers.org/clinvar/372226 ^@ NM_176869.2(PPA2):c.683C>T (p.Pro228Leu) http://identifiers.org/clinvar/373792 ^@ NM_183357.2(ADCY5):c.2767G>A (p.Val923Met) http://identifiers.org/clinvar/373642 ^@ NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) http://identifiers.org/clinvar/373292 ^@ NM_005068.2(SIM1):c.1298C>A (p.Ser433Ter) http://identifiers.org/clinvar/372942 ^@ NM_000238.3(KCNH2):c.3200dupT (p.Gln1068Thrfs) http://identifiers.org/clinvar/372889 ^@ NM_022455.4(NSD1):c.6425A>C (p.Tyr2142Ser) http://identifiers.org/clinvar/373392 ^@ NM_006129.4(BMP1):c.1249C>T (p.Arg417Cys) http://identifiers.org/clinvar/373542 ^@ NM_177924.4(ASAH1):c.994G>C (p.Asp332His) http://identifiers.org/clinvar/373692 ^@ NM_032634.3(PIGO):c.412C>T (p.Leu138Phe) http://identifiers.org/clinvar/373092 ^@ NM_003816.2(ADAM9):c.196-1G>A http://identifiers.org/clinvar/373242 ^@ NM_021167.4(GATAD1):c.575T>C (p.Leu192Pro) http://identifiers.org/clinvar/373742 ^@ NM_000093.4(COL5A1):c.2503G>A (p.Gly835Ser) http://identifiers.org/clinvar/373192 ^@ NM_019892.5(INPP5E):c.872C>T (p.Ala291Val) http://identifiers.org/clinvar/373492 ^@ NM_139241.3(FGD4):c.-93+1G>A http://identifiers.org/clinvar/372839 ^@ NM_015346.3(ZFYVE26):c.2254C>T (p.Gln752Ter) http://identifiers.org/clinvar/373342 ^@ NM_000267.3(NF1):c.587-2A>T http://identifiers.org/clinvar/373142 ^@ NM_005215.3(DCC):c.3242G>A (p.Gly1081Glu) http://identifiers.org/clinvar/373442 ^@ NM_005629.3(SLC6A8):c.1861C>T (p.Pro621Ser) http://identifiers.org/clinvar/372992 ^@ NM_033380.2(COL4A5):c.3490G>T (p.Gly1164Cys) http://identifiers.org/clinvar/373592 ^@ NM_172107.3(KCNQ2):c.766G>C (p.Gly256Arg) http://identifiers.org/clinvar/373042 ^@ NM_000273.2(GPR143):c.163_170delGCGGGCCC (p.Ala55Argfs) http://identifiers.org/clinvar/373842 ^@ NG_005905.2:g.110245_115469del5225 http://identifiers.org/clinvar/373895 ^@ NM_144997.5(FLCN):c.932_933delCT (p.Pro311Argfs) http://identifiers.org/clinvar/374095 ^@ NM_006516.2(SLC2A1):c.1407G>C (p.Gln469His) http://identifiers.org/clinvar/374145 ^@ NM_133437.4(TTN):c.76741delG (p.Glu25581Asnfs) http://identifiers.org/clinvar/374195 ^@ NM_005592.3(MUSK):c.2365G>A (p.Gly789Ser) http://identifiers.org/clinvar/374045 ^@ NM_000257.3(MYH7):c.5122G>A (p.Glu1708Lys) http://identifiers.org/clinvar/373945 ^@ NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) http://identifiers.org/clinvar/373995 ^@ NC_012920.1:m.15446C>T http://identifiers.org/clinvar/374249 ^@ NM_001040142.1(SCN2A):c.4063_4075delGGAGTGAATCTCT (p.Gly1355Leufs) http://identifiers.org/clinvar/374687 ^@ NM_021912.4(GABRB3):c.380A>G (p.Lys127Arg) http://identifiers.org/clinvar/374737 ^@ NM_000350.2(ABCA4):c.370C>T (p.Arg124Cys) http://identifiers.org/clinvar/390721 ^@ NM_001256850.1(TTN):c.14824+8T>C http://identifiers.org/clinvar/387932 ^@ NM_000251.2(MSH2):c.1032G>A (p.Gln344=) http://identifiers.org/clinvar/378287 ^@ NM_001135659.2(NRXN1):c.1233+8C>T http://identifiers.org/clinvar/390921 ^@ NM_153240.4(NPHP3):c.393+18C>T http://identifiers.org/clinvar/378693 ^@ NM_003849.3(SUCLG1):c.291C>T (p.Gly97=) http://identifiers.org/clinvar/388632 ^@ NM_002880.3(RAF1):c.681-5C>G http://identifiers.org/clinvar/390171 ^@ NM_013334.3(GMPPB):c.702G>A (p.Gln234=) http://identifiers.org/clinvar/388132 ^@ NM_000249.3(MLH1):c.116+8G>A http://identifiers.org/clinvar/389282 ^@ NM_006726.4(LRBA):c.2166-10A>G http://identifiers.org/clinvar/388932 ^@ NM_005051.2(QARS):c.877-15G>A http://identifiers.org/clinvar/378945 ^@ NM_000038.5(APC):c.2547T>C (p.Asp849=) http://identifiers.org/clinvar/389871 ^@ NM_152618.2(BBS12):c.1507G>T (p.Val503Leu) http://identifiers.org/clinvar/380887 ^@ NM_024582.4(FAT4):c.12064C>T (p.Arg4022Trp) http://identifiers.org/clinvar/378643 ^@ NM_006846.3(SPINK5):c.2442-16A>G http://identifiers.org/clinvar/378895 ^@ NM_001182.4(ALDH7A1):c.961G>A (p.Ala321Thr) http://identifiers.org/clinvar/379996 ^@ NM_001085411.2(NADK2):c.-312A>G http://identifiers.org/clinvar/379095 ^@ NM_198056.2(SCN5A):c.5994T>C (p.Ser1998=) http://identifiers.org/clinvar/379345 ^@ NM_002397.4(MEF2C):c.871T>C (p.Leu291=) http://identifiers.org/clinvar/389971 ^@ NM_023073.3(C5orf42):c.2138C>T (p.Ser713Leu) http://identifiers.org/clinvar/379896 ^@ NM_181523.2(PIK3R1):c.1568+2T>C http://identifiers.org/clinvar/389232 ^@ NM_033071.3(SYNE1):c.6745-14T>C http://identifiers.org/clinvar/380787 ^@ NM_018341.2(ERMARD):c.1233+10A>G http://identifiers.org/clinvar/378137 ^@ NM_152778.2(MFSD8):c.999G>A (p.Lys333=) http://identifiers.org/clinvar/380837 ^@ NM_002291.2(LAMB1):c.3065A>G (p.Gln1022Arg) http://identifiers.org/clinvar/390821 ^@ NM_004415.3(DSP):c.915C>T (p.Ile305=) http://identifiers.org/clinvar/391021 ^@ NM_000038.5(APC):c.1958+5A>G http://identifiers.org/clinvar/379045 ^@ NM_000238.3(KCNH2):c.1608G>A (p.Ala536=) http://identifiers.org/clinvar/389332 ^@ NM_000238.3(KCNH2):c.598C>T (p.Leu200=) http://identifiers.org/clinvar/392710 ^@ NM_024531.4(SLC52A2):c.1001+20C>T http://identifiers.org/clinvar/393260 ^@ NM_018941.3(CLN8):c.287C>T (p.Ala96Val) http://identifiers.org/clinvar/390871 ^@ NM_001101.3(ACTB):c.93C>T (p.Phe31=) http://identifiers.org/clinvar/379795 ^@ NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) http://identifiers.org/clinvar/389032 ^@ NM_002485.4(NBN):c.21C>T (p.Ala7=) http://identifiers.org/clinvar/388782 ^@ NM_033071.3(SYNE1):c.21378A>G (p.Leu7126=) http://identifiers.org/clinvar/388982 ^@ NM_002485.4(NBN):c.320+8A>G http://identifiers.org/clinvar/379495 ^@ NM_000692.4(ALDH1B1):c.1352G>A (p.Arg451Gln) http://identifiers.org/clinvar/133035 ^@ NM_000540.2(RYR1):c.12241A>T (p.Thr4081Ser) http://identifiers.org/clinvar/133085 ^@ NM_000540.2(RYR1):c.14647-60C>T http://identifiers.org/clinvar/133135 ^@ NM_000540.2(RYR1):c.4775C>T (p.Pro1592Leu) http://identifiers.org/clinvar/133185 ^@ NM_000540.2(RYR1):c.7090T>G (p.Phe2364Val) http://identifiers.org/clinvar/133235 ^@ NM_000540.2(RYR1):c.8816+43A>C http://identifiers.org/clinvar/133314 ^@ NM_000277.1(PAH):c.781C>G (p.Arg261Gly) http://identifiers.org/clinvar/133377 ^@ NM_014225.5(PPP2R1A):c.78+62C>G http://identifiers.org/clinvar/133427 ^@ NM_000548.4(TSC2):c.336+229C>T http://identifiers.org/clinvar/133477 ^@ NM_004304.4(ALK):c.4796C>A (p.Pro1599His) http://identifiers.org/clinvar/133528 ^@ NM_000038.5(APC):c.3325G>T (p.Gly1109Cys) http://identifiers.org/clinvar/133578 ^@ NM_015338.5(ASXL1):c.2513A>G (p.Lys838Arg) http://identifiers.org/clinvar/133628 ^@ NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) http://identifiers.org/clinvar/133678 ^@ NM_001123383.1(BCOR):c.1264A>G (p.Ser422Gly) http://identifiers.org/clinvar/134677 ^@ NM_003482.3(KMT2D):c.5207C>G (p.Pro1736Arg) http://identifiers.org/clinvar/135134 ^@ NM_004260.3(RECQL4):c.2086C>A (p.Arg696Ser) http://identifiers.org/clinvar/135185 ^@ NM_020630.4(RET):c.1049C>T (p.Thr350Ile) http://identifiers.org/clinvar/135366 ^@ NM_000368.4(TSC1):c.2665_2666delGAinsAT (p.Glu889Ile) http://identifiers.org/clinvar/135417 ^@ NM_000553.4(WRN):c.1708G>C (p.Val570Leu) http://identifiers.org/clinvar/135467 ^@ NM_004628.4(XPC):c.1921T>C (p.Tyr641His) http://identifiers.org/clinvar/135517 ^@ NM_001346897.1(EGFR):c.3178T>G (p.Ser1060Ala) http://identifiers.org/clinvar/135568 ^@ NC_000002.12:g.47678251C>G http://identifiers.org/clinvar/135643 ^@ NC_000006.10:g.(159830469_159869956)_(170226118_170673013)del http://identifiers.org/clinvar/135702 ^@ NM_000038.5(APC):c.4333A>G (p.Thr1445Ala) http://identifiers.org/clinvar/135753 ^@ NM_000051.3(ATM):c.4101C>T (p.Asp1367=) http://identifiers.org/clinvar/135812 ^@ NM_000059.3(BRCA2):c.67+16A>T http://identifiers.org/clinvar/135862 ^@ NM_000251.2(MSH2):c.336C>A (p.Ser112=) http://identifiers.org/clinvar/135912 ^@ NM_000314.6(PTEN):c.802-3T>A http://identifiers.org/clinvar/135962 ^@ NM_001127500.2(MET):c.1739G>A (p.Arg580Lys) http://identifiers.org/clinvar/136014 ^@ NM_001166110.1(PALLD):c.881T>C (p.Met294Thr) http://identifiers.org/clinvar/136064 ^@ NM_004360.4(CDH1):c.214G>A (p.Asp72Asn) http://identifiers.org/clinvar/136115 ^@ NM_020975.4(RET):c.3112A>G (p.Thr1038Ala) http://identifiers.org/clinvar/136165 ^@ NM_130799.2(MEN1):c.1186-7C>T http://identifiers.org/clinvar/136226 ^@ NM_020745.3(AARS2):c.895-16C>T http://identifiers.org/clinvar/136277 ^@ NM_174917.4(ACSF3):c.667-12C>T http://identifiers.org/clinvar/136327 ^@ NM_001625.3(AK2):c.625G>A (p.Ala209Thr) http://identifiers.org/clinvar/136378 ^@ NM_001182.4(ALDH7A1):c.-29T>C http://identifiers.org/clinvar/184728 ^@ NM_007294.3(BRCA1):c.4018T>C (p.Leu1340=) http://identifiers.org/clinvar/187759 ^@ NM_007294.3(BRCA1):c.3091A>T (p.Ile1031Phe) http://identifiers.org/clinvar/184378 ^@ NM_007294.3(BRCA1):c.1875A>G (p.Leu625=) http://identifiers.org/clinvar/184578 ^@ NM_007294.3(BRCA1):c.1833G>A (p.Leu611=) http://identifiers.org/clinvar/183777 ^@ NM_032043.2(BRIP1):c.1194C>T (p.Ile398=) http://identifiers.org/clinvar/183978 ^@ NM_005359.5(SMAD4):c.1242dupA (p.Asp415Argfs) http://identifiers.org/clinvar/184178 ^@ NM_000455.4(STK11):c.237C>T (p.Ile79=) http://identifiers.org/clinvar/187819 ^@ NM_000777.4(CYP3A5):c.319-1630C>T http://identifiers.org/clinvar/188352 ^@ NM_002047.3(GARS):c.1568A>T (p.Asp523Val) http://identifiers.org/clinvar/188299 ^@ NM_000264.3(PTCH1):c.3915C>A (p.Asp1305Glu) http://identifiers.org/clinvar/188246 ^@ NM_000051.3(ATM):c.6233C>T (p.Ser2078Phe) http://identifiers.org/clinvar/188193 ^@ NM_015272.4(RPGRIP1L):c.230+1G>A http://identifiers.org/clinvar/188511 ^@ NM_000249.3(MLH1):c.2251A>T (p.Lys751Ter) http://identifiers.org/clinvar/188461 ^@ NM_004415.3(DSP):c.1420-3C>G http://identifiers.org/clinvar/188561 ^@ NM_000256.3(MYBPC3):c.1999_2000delCTinsA (p.Leu667Asnfs) http://identifiers.org/clinvar/188661 ^@ NM_004572.3(PKP2):c.2300-21_2300-20delGT http://identifiers.org/clinvar/188611 ^@ NM_000257.3(MYH7):c.1887G>A (p.Ala629=) http://identifiers.org/clinvar/188409 ^@ NM_007294.3(BRCA1):c.2298dupT (p.Ser767Terfs) http://identifiers.org/clinvar/188962 ^@ NM_000182.4(HADHA):c.1793_1794delAT (p.His598Argfs) http://identifiers.org/clinvar/188711 ^@ NM_000288.3(PEX7):c.400G>A (p.Asp134Asn) http://identifiers.org/clinvar/188861 ^@ NM_000035.3(ALDOB):c.360_363delCAAA (p.Asn120Lysfs) http://identifiers.org/clinvar/188912 ^@ NM_014363.5(SACS):c.12973C>T (p.Arg4325Ter) http://identifiers.org/clinvar/189113 ^@ NM_000153.3(GALC):c.1657G>A (p.Gly553Arg) http://identifiers.org/clinvar/189163 ^@ NM_000382.2(ALDH3A2):c.471+1delG http://identifiers.org/clinvar/188811 ^@ NM_000023.3(SGCA):c.220C>T (p.Arg74Trp) http://identifiers.org/clinvar/189013 ^@ NM_000152.4(GAA):c.1933G>C (p.Asp645His) http://identifiers.org/clinvar/189063 ^@ NM_000159.3(GCDH):c.383G>A (p.Arg128Gln) http://identifiers.org/clinvar/188761 ^@ NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) http://identifiers.org/clinvar/189229 ^@ NM_014080.4(DUOX2):c.2895_2898delGTTC (p.Phe966Serfs) http://identifiers.org/clinvar/189281 ^@ NM_014795.3(ZEB2):c.1027C>T (p.Arg343Ter) http://identifiers.org/clinvar/189340 ^@ NM_014822.3(SEC24D):c.613C>T (p.Gln205Ter) http://identifiers.org/clinvar/189493 ^@ NM_000314.6(PTEN):c.-892T>C http://identifiers.org/clinvar/189431 ^@ NM_000314.6(PTEN):c.46dupT (p.Tyr16Leufs) http://identifiers.org/clinvar/189703 ^@ NM_004992.3(MECP2):c.(?_378)_*(1_?)del http://identifiers.org/clinvar/189653 ^@ NM_004992.3(MECP2):c.1123_1202del80 (p.Ser375Profs) http://identifiers.org/clinvar/189553 ^@ NM_003159.2(CDKL5):c.1090G>T (p.Glu364Ter) http://identifiers.org/clinvar/189603 ^@ NM_003159.2(CDKL5):c.2714-47C>T http://identifiers.org/clinvar/227287 ^@ NM_015404.3(WHRN):c.1716C>T (p.Thr572=) http://identifiers.org/clinvar/227537 ^@ NM_002755.3(MAP2K1):c.39G>A (p.Pro13=) http://identifiers.org/clinvar/227337 ^@ NM_024422.4(DSC2):c.1521-7C>T http://identifiers.org/clinvar/226546 ^@ NM_000395.2(CSF2RB):c.1464+15C>T http://identifiers.org/clinvar/227387 ^@ NM_000169.2(GLA):c.194+14G>C http://identifiers.org/clinvar/229378 ^@ NM_144991.2(TSPEAR):c.418G>A (p.Ala140Thr) http://identifiers.org/clinvar/234646 ^@ NM_000179.2(MSH6):c.-24G>A http://identifiers.org/clinvar/234847 ^@ NM_000179.2(MSH6):c.792A>C (p.Glu264Asp) http://identifiers.org/clinvar/234444 ^@ NM_000249.3(MLH1):c.409G>A (p.Ala137Thr) http://identifiers.org/clinvar/234495 ^@ NM_000314.6(PTEN):c.-1041C>G http://identifiers.org/clinvar/234267 ^@ NM_000051.3(ATM):c.4303A>C (p.Lys1435Gln) http://identifiers.org/clinvar/234376 ^@ NM_000431.3(MVK):c.14T>C (p.Val5Ala) http://identifiers.org/clinvar/234696 ^@ NM_000834.3(GRIN2B):c.3332G>A (p.Arg1111His) http://identifiers.org/clinvar/234546 ^@ NM_000834.3(GRIN2B):c.2452A>C (p.Met818Leu) http://identifiers.org/clinvar/234596 ^@ NM_004360.4(CDH1):c.2152C>A (p.Leu718Ile) http://identifiers.org/clinvar/234897 ^@ NM_004655.3(AXIN2):c.2240A>G (p.His747Arg) http://identifiers.org/clinvar/234746 ^@ NM_004655.3(AXIN2):c.161A>G (p.Asn54Ser) http://identifiers.org/clinvar/234323 ^@ NM_000214.2(JAG1):c.2666G>A (p.Arg889Gln) http://identifiers.org/clinvar/232369 ^@ NM_003001.3(SDHC):c.-3A>G http://identifiers.org/clinvar/233962 ^@ NM_001128425.1(MUTYH):c.1277G>T (p.Arg426Leu) http://identifiers.org/clinvar/233912 ^@ NM_001128425.1(MUTYH):c.708T>A (p.Asp236Glu) http://identifiers.org/clinvar/233309 ^@ NM_000465.3(BARD1):c.1547A>T (p.Tyr516Phe) http://identifiers.org/clinvar/233811 ^@ NM_000251.2(MSH2):c.731delT (p.Leu244Cysfs) http://identifiers.org/clinvar/232319 ^@ NM_000179.2(MSH6):c.957G>A (p.Thr319=) http://identifiers.org/clinvar/231869 ^@ NM_000551.3(VHL):c.545G>A (p.Arg182Lys) http://identifiers.org/clinvar/232419 ^@ NM_000249.3(MLH1):c.608A>G (p.Asp203Gly) http://identifiers.org/clinvar/231969 ^@ NM_000249.3(MLH1):c.700G>A (p.Glu234Lys) http://identifiers.org/clinvar/229680 ^@ NM_000249.3(MLH1):c.745G>A (p.Ala249Thr) http://identifiers.org/clinvar/231369 ^@ NM_000038.5(APC):c.933+5C>A http://identifiers.org/clinvar/229830 ^@ NM_000038.5(APC):c.1166_1168delACA (p.Asn389del) http://identifiers.org/clinvar/264361 ^@ NM_020433.4(JPH2):c.1357C>T (p.Pro453Ser) http://identifiers.org/clinvar/263350 ^@ NM_080647.1(TBX1):c.420T>C (p.Phe140=) http://identifiers.org/clinvar/263503 ^@ NM_006440.4(TXNRD2):c.431G>A (p.Arg144His) http://identifiers.org/clinvar/264561 ^@ NM_005120.2(MED12):c.6168A>G (p.Gln2056=) http://identifiers.org/clinvar/264726 ^@ NM_001242896.1(DEPDC5):c.918C>G (p.Tyr306Ter) http://identifiers.org/clinvar/264931 ^@ NM_000059.3(BRCA2):c.7007+1433C>T http://identifiers.org/clinvar/264881 ^@ NM_000059.3(BRCA2):c.9257-377T>A http://identifiers.org/clinvar/264831 ^@ NM_007294.3(BRCA1):c.135-332C>T http://identifiers.org/clinvar/264781 ^@ NM_007294.3(BRCA1):c.80+4068T>C http://identifiers.org/clinvar/267283 ^@ NM_016341.3(PLCE1):c.6800G>A (p.Arg2267Gln) http://identifiers.org/clinvar/266602 ^@ NM_000059.3(BRCA2):c.103dupC (p.Leu35Profs) http://identifiers.org/clinvar/266702 ^@ NM_000059.3(BRCA2):c.248_249delAG (p.Glu83Alafs) http://identifiers.org/clinvar/266652 ^@ NM_000059.3(BRCA2):c.1675delG (p.Asp559Ilefs) http://identifiers.org/clinvar/266752 ^@ NM_000059.3(BRCA2):c.3489delT (p.Leu1164Phefs) http://identifiers.org/clinvar/266802 ^@ NM_000059.3(BRCA2):c.4305delT (p.Asn1435Lysfs) http://identifiers.org/clinvar/266852 ^@ NM_000059.3(BRCA2):c.5149delG (p.Glu1717Lysfs) http://identifiers.org/clinvar/266902 ^@ NM_000059.3(BRCA2):c.5904dupA (p.Val1969Serfs) http://identifiers.org/clinvar/266952 ^@ NM_000059.3(BRCA2):c.6500T>A (p.Leu2167Ter) http://identifiers.org/clinvar/267002 ^@ NM_000059.3(BRCA2):c.7355delA (p.Asn2452Metfs) http://identifiers.org/clinvar/267052 ^@ NM_000059.3(BRCA2):c.8056delC (p.Val2687Phefs) http://identifiers.org/clinvar/267102 ^@ NM_000059.3(BRCA2):c.8652T>G (p.Tyr2884Ter) http://identifiers.org/clinvar/267152 ^@ NM_000059.3(BRCA2):c.9331_9335delGAGGAinsCCT (p.Glu3111Profs) http://identifiers.org/clinvar/266552 ^@ NM_007294.3(BRCA1):c.5390C>G (p.Ser1797Ter) http://identifiers.org/clinvar/266502 ^@ NM_007294.3(BRCA1):c.4885dupG (p.Glu1629Glyfs) http://identifiers.org/clinvar/267221 ^@ NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) http://identifiers.org/clinvar/267354 ^@ NM_001733.4(C1R):c.899T>C (p.Leu300Pro) http://identifiers.org/clinvar/267423 ^@ NM_017780.3(CHD7):c.3205C>T (p.Arg1069Ter) http://identifiers.org/clinvar/267659 ^@ NM_000059.3(BRCA2):c.682-2A>C http://identifiers.org/clinvar/267709 ^@ NM_000059.3(BRCA2):c.8953+2T>G http://identifiers.org/clinvar/267559 ^@ NM_007294.3(BRCA1):c.4676-1420_4986+900del http://identifiers.org/clinvar/267509 ^@ NM_007294.3(BRCA1):c.1604_1612delGAACTAACCins13 (p.?) http://identifiers.org/clinvar/267609 ^@ NM_007294.3(BRCA1):c.626delC (p.Pro209Leufs) http://identifiers.org/clinvar/267788 ^@ NM_006087.3(TUBB4A):c.1099T>A (p.F367I) http://identifiers.org/clinvar/267839 ^@ 46;XY;inv(6)(q22.2q27)dn http://identifiers.org/clinvar/267889 ^@ 46;XX;inv(14)(q24.1q32.1)dn http://identifiers.org/clinvar/267939 ^@ 46;XY;inv(2)(q11.2q24.2)dn http://identifiers.org/clinvar/267989 ^@ 46;XY;t(2;3)(q23;q13.32) http://identifiers.org/clinvar/268039 ^@ 46;XY;t(3;18)(q13.31;q22.1)dn http://identifiers.org/clinvar/280555 ^@ NM_002016.1(FLG):c.4786C>T (p.Gln1596Ter) http://identifiers.org/clinvar/280705 ^@ NM_024408.3(NOTCH2):c.6787C>T (p.Gln2263Ter) http://identifiers.org/clinvar/280303 ^@ NM_005850.4(SF3B4):c.811delG (p.Ala271Glnfs) http://identifiers.org/clinvar/290931 ^@ NM_004369.3(COL6A3):c.2324G>T (p.Cys775Phe) http://identifiers.org/clinvar/290981 ^@ NM_024549.5(TCTN1):c.937-2A>G http://identifiers.org/clinvar/291031 ^@ NM_005529.6(HSPG2):c.7026C>T (p.Pro2342=) http://identifiers.org/clinvar/291081 ^@ NM_000128.3(F11):c.1288G>A (p.Ala430Thr) http://identifiers.org/clinvar/291131 ^@ NM_058246.3(DNAJB6):c.429G>A (p.Ala143=) http://identifiers.org/clinvar/291182 ^@ NM_000314.6(PTEN):c.827delA (p.Asn276Ilefs) http://identifiers.org/clinvar/291232 ^@ NM_002615.6(SERPINF1):c.555G>A (p.Gln185=) http://identifiers.org/clinvar/291397 ^@ NM_001918.3(DBT):c.*5919A>G http://identifiers.org/clinvar/291447 ^@ NM_001918.3(DBT):c.*488G>A http://identifiers.org/clinvar/291497 ^@ NM_001854.3(COL11A1):c.4719G>A (p.Ser1573=) http://identifiers.org/clinvar/291547 ^@ NM_001854.3(COL11A1):c.489-7T>G http://identifiers.org/clinvar/291597 ^@ NM_015074.3(KIF1B):c.*375A>G http://identifiers.org/clinvar/291789 ^@ NM_006610.3(MASP2):c.967A>C (p.Ser323Arg) http://identifiers.org/clinvar/291739 ^@ NM_007375.3(TARDBP):c.720G>A (p.Ala240=) http://identifiers.org/clinvar/291889 ^@ NM_003051.3(SLC16A1):c.72T>A (p.Ile24=) http://identifiers.org/clinvar/291989 ^@ NM_002506.2(NGF):c.421G>C (p.Val141Leu) http://identifiers.org/clinvar/292039 ^@ NM_138959.2(VANGL1):c.*1545A>G http://identifiers.org/clinvar/292089 ^@ NM_138959.2(VANGL1):c.*5413A>C http://identifiers.org/clinvar/291939 ^@ NM_002524.4(NRAS):c.*3499C>T http://identifiers.org/clinvar/291839 ^@ NM_003051.3(SLC16A1):c.*1018T>G http://identifiers.org/clinvar/292539 ^@ NM_019032.5(ADAMTSL4):c.1860G>A (p.Pro620=) http://identifiers.org/clinvar/292239 ^@ NM_005957.4(MTHFR):c.1011G>A (p.Gly337=) http://identifiers.org/clinvar/292389 ^@ NM_014874.3(MFN2):c.*730C>T http://identifiers.org/clinvar/292839 ^@ NM_005572.3(LMNA):c.1488G>A (p.Thr496=) http://identifiers.org/clinvar/292889 ^@ NM_001012331.1(NTRK1):c.1656G>A (p.Gln552=) http://identifiers.org/clinvar/292189 ^@ NM_005957.4(MTHFR):c.*2657C>T http://identifiers.org/clinvar/292939 ^@ NM_003126.2(SPTA1):c.6896G>T (p.Cys2299Phe) http://identifiers.org/clinvar/292989 ^@ NM_003126.2(SPTA1):c.3839A>G (p.Asp1280Gly) http://identifiers.org/clinvar/293039 ^@ NM_003126.2(SPTA1):c.1463T>A (p.Val488Glu) http://identifiers.org/clinvar/293089 ^@ NM_002241.4(KCNJ10):c.*2373C>T http://identifiers.org/clinvar/292739 ^@ NM_001111.4(ADAR):c.*714G>A http://identifiers.org/clinvar/293139 ^@ NM_000702.3(ATP1A2):c.*142A>G http://identifiers.org/clinvar/292289 ^@ NM_000302.3(PLOD1):c.844-6G>T http://identifiers.org/clinvar/292339 ^@ NM_005518.3(HMGCS2):c.270G>A (p.Gln90=) http://identifiers.org/clinvar/293439 ^@ NM_004431.4(EPHA2):c.944G>A (p.Arg315Gln) http://identifiers.org/clinvar/292439 ^@ NM_005266.6(GJA5):c.*617_*641dup25 http://identifiers.org/clinvar/293539 ^@ NM_006996.2(SLC19A2):c.-163G>T http://identifiers.org/clinvar/292489 ^@ NM_005850.4(SF3B4):c.-255A>C http://identifiers.org/clinvar/292639 ^@ NM_152263.3(TPM3):c.*4574_*4578delCTTTA http://identifiers.org/clinvar/292589 ^@ NM_000396.3(CTSK):c.-72T>C http://identifiers.org/clinvar/292689 ^@ NM_152263.3(TPM3):c.*389G>A http://identifiers.org/clinvar/293589 ^@ NM_000130.4(F5):c.5124C>T (p.Tyr1708=) http://identifiers.org/clinvar/292789 ^@ NM_153741.1(DPM3):c.249C>A (p.Ala83=) http://identifiers.org/clinvar/293489 ^@ NM_005149.2(TBX19):c.*371C>G http://identifiers.org/clinvar/343420 ^@ NM_001063.3(TF):c.-84G>T http://identifiers.org/clinvar/343470 ^@ NM_000532.4(PCCB):c.836C>T (p.Pro279Leu) http://identifiers.org/clinvar/336344 ^@ NM_139279.5(MCFD2):c.*2075C>T http://identifiers.org/clinvar/336551 ^@ NM_001135659.2(NRXN1):c.1283C>T (p.Thr428Ile) http://identifiers.org/clinvar/336244 ^@ NM_001430.4(EPAS1):c.218-8_218-7dupCT http://identifiers.org/clinvar/336801 ^@ NM_002056.3(GFPT1):c.*4730G>A http://identifiers.org/clinvar/336451 ^@ NM_000233.3(LHCGR):c.*300T>A http://identifiers.org/clinvar/336851 ^@ NM_002056.3(GFPT1):c.*1244G>T http://identifiers.org/clinvar/336601 ^@ NM_001135659.2(NRXN1):c.-1457_-1452delCTCTCT http://identifiers.org/clinvar/336951 ^@ NM_003494.3(DYSF):c.1397+13T>C http://identifiers.org/clinvar/337101 ^@ NM_004082.4(DCTN1):c.-262A>G http://identifiers.org/clinvar/337351 ^@ NM_022912.2(REEP1):c.*2574G>A http://identifiers.org/clinvar/337451 ^@ NM_017849.3(TMEM127):c.*3025G>C http://identifiers.org/clinvar/346419 ^@ NM_198859.3(PRICKLE2):c.*4455A>G http://identifiers.org/clinvar/346719 ^@ NM_002942.4(ROBO2):c.*486A>T http://identifiers.org/clinvar/346769 ^@ NM_002942.4(ROBO2):c.*3618T>C http://identifiers.org/clinvar/346819 ^@ NM_014043.3(CHMP2B):c.*1071A>G http://identifiers.org/clinvar/346969 ^@ NM_000097.5(CPOX):c.*95G>A http://identifiers.org/clinvar/347169 ^@ NM_000204.4(CFI):c.540A>G (p.Glu180=) http://identifiers.org/clinvar/347219 ^@ NM_001963.5(EGF):c.-283G>C http://identifiers.org/clinvar/347319 ^@ NM_001148.4(ANK2):c.3893+9A>T http://identifiers.org/clinvar/347419 ^@ NM_016599.4(MYOZ2):c.*1128G>A http://identifiers.org/clinvar/342970 ^@ NM_000373.3(UMPS):c.*2172A>G http://identifiers.org/clinvar/343020 ^@ NM_000373.3(UMPS):c.*4116G>A http://identifiers.org/clinvar/343120 ^@ NM_032638.4(GATA2):c.*546C>T http://identifiers.org/clinvar/346319 ^@ NM_001457.3(FLNB):c.2097G>C (p.Arg699=) http://identifiers.org/clinvar/343070 ^@ NM_025265.3(TSEN2):c.604A>T (p.Thr202Ser) http://identifiers.org/clinvar/343220 ^@ NM_000174.4(GP9):c.368C>T (p.Pro123Leu) http://identifiers.org/clinvar/346369 ^@ NM_001457.3(FLNB):c.*200C>T http://identifiers.org/clinvar/343170 ^@ NM_004637.5(RAB7A):c.*473G>C http://identifiers.org/clinvar/343320 ^@ NM_014382.3(ATP2C1):c.531+10G>A http://identifiers.org/clinvar/346469 ^@ NM_198859.3(PRICKLE2):c.*469G>T http://identifiers.org/clinvar/347969 ^@ NM_006017.2(PROM1):c.*551A>T http://identifiers.org/clinvar/343370 ^@ NM_153240.4(NPHP3):c.*231A>T http://identifiers.org/clinvar/346869 ^@ NM_000313.3(PROS1):c.*693G>A http://identifiers.org/clinvar/353936 ^@ NM_001104631.1(PDE4D):c.*2934G>A http://identifiers.org/clinvar/361924 ^@ NM_003235.4(TG):c.2443G>A (p.Gly815Arg) http://identifiers.org/clinvar/358186 ^@ NM_183050.3(BCKDHB):c.*644C>T http://identifiers.org/clinvar/354086 ^@ NM_001038603.2(MARVELD2):c.743A>G (p.Tyr248Cys) http://identifiers.org/clinvar/353786 ^@ NM_002203.3(ITGA2):c.*60G>T http://identifiers.org/clinvar/358336 ^@ NM_000602.4(SERPINE1):c.*1590A>G http://identifiers.org/clinvar/353836 ^@ NM_002203.3(ITGA2):c.*2883_*2893dupGTATGTTTAGC http://identifiers.org/clinvar/354186 ^@ NM_003719.3(PDE8B):c.*439C>T http://identifiers.org/clinvar/362174 ^@ NM_000498.3(CYP11B2):c.*1047C>T http://identifiers.org/clinvar/362224 ^@ NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) http://identifiers.org/clinvar/362274 ^@ NM_003923.2(FOXH1):c.*172C>G http://identifiers.org/clinvar/353986 ^@ NM_001104631.1(PDE4D):c.1831-7A>G http://identifiers.org/clinvar/362424 ^@ NM_000237.2(LPL):c.*448C>T http://identifiers.org/clinvar/354386 ^@ NM_004385.4(VCAN):c.-89T>C http://identifiers.org/clinvar/354286 ^@ NM_000046.3(ARSB):c.*1360T>A http://identifiers.org/clinvar/354536 ^@ NM_002890.2(RASA1):c.*424G>T http://identifiers.org/clinvar/362624 ^@ NM_006158.4(NEFL):c.*1256G>A http://identifiers.org/clinvar/354636 ^@ NM_000439.4(PCSK1):c.*88G>C http://identifiers.org/clinvar/354486 ^@ NM_004385.4(VCAN):c.*910A>C http://identifiers.org/clinvar/359025 ^@ NM_020632.2(ATP6V0A4):c.808T>A (p.Leu270Ile) http://identifiers.org/clinvar/354786 ^@ NM_020381.3(PDSS2):c.382G>A (p.Val128Met) http://identifiers.org/clinvar/354686 ^@ NM_005068.2(SIM1):c.544-15A>C http://identifiers.org/clinvar/354836 ^@ NM_007214.4(SEC63):c.*2886A>C http://identifiers.org/clinvar/359625 ^@ NM_001277115.1(DNAH11):c.4306C>T (p.Arg1436Trp) http://identifiers.org/clinvar/359825 ^@ NM_004403.2(DFNA5):c.*481G>C http://identifiers.org/clinvar/360125 ^@ NM_133468.4(BMPER):c.*384T>G http://identifiers.org/clinvar/364263 ^@ NM_001701.3(BAAT):c.*1041A>C http://identifiers.org/clinvar/364613 ^@ NM_005592.3(MUSK):c.2098G>A (p.Ala700Thr) http://identifiers.org/clinvar/360675 ^@ NM_000501.3(ELN):c.*629T>C http://identifiers.org/clinvar/365163 ^@ NM_001130438.2(SPTAN1):c.3495G>A (p.Glu1165=) http://identifiers.org/clinvar/365413 ^@ NM_000368.4(TSC1):c.*3729G>T http://identifiers.org/clinvar/365613 ^@ NM_014694.3(ADAMTSL2):c.*92G>A http://identifiers.org/clinvar/361774 ^@ NM_004519.3(KCNQ3):c.*6446delA http://identifiers.org/clinvar/357186 ^@ NM_012120.2(CD2AP):c.*494_*495dupGT http://identifiers.org/clinvar/357236 ^@ NM_000255.3(MUT):c.*1252T>C http://identifiers.org/clinvar/303155 ^@ NM_018400.3(SCN3B):c.*2266G>A http://identifiers.org/clinvar/367203 ^@ NM_000170.2(GLDC):c.470+11T>C http://identifiers.org/clinvar/303255 ^@ NM_022370.3(ROBO3):c.2603C>T (p.Pro868Leu) http://identifiers.org/clinvar/366803 ^@ NM_005476.5(GNE):c.*2410G>C http://identifiers.org/clinvar/303455 ^@ NM_016952.4(CDON):c.*1736C>T http://identifiers.org/clinvar/303555 ^@ NM_000220.4(KCNJ1):c.*964A>G http://identifiers.org/clinvar/303655 ^@ NM_000890.3(KCNJ5):c.*960G>C http://identifiers.org/clinvar/311803 ^@ NM_000538.3(RFXAP):c.*1387T>C http://identifiers.org/clinvar/367053 ^@ NM_004170.5(SLC1A1):c.1150T>C (p.Leu384=) http://identifiers.org/clinvar/303805 ^@ NM_005709.3(USH1C):c.883G>A (p.Glu295Lys) http://identifiers.org/clinvar/367103 ^@ NM_203447.3(DOCK8):c.*757T>G http://identifiers.org/clinvar/367153 ^@ NM_004972.3(JAK2):c.*1325_*1330dupGTGTGT http://identifiers.org/clinvar/312053 ^@ NM_207361.5(FREM2):c.*1467G>A http://identifiers.org/clinvar/303955 ^@ NM_003476.4(CSRP3):c.-154_-153dupAG http://identifiers.org/clinvar/304055 ^@ NM_000207.2(INS):c.130G>A (p.Gly44Arg) http://identifiers.org/clinvar/298527 ^@ NM_022039.3(FBXW4):c.*7G>C http://identifiers.org/clinvar/312203 ^@ NM_014252.3(SLC25A15):c.*1626A>G http://identifiers.org/clinvar/312453 ^@ NM_000115.4(EDNRB):c.*1662T>C http://identifiers.org/clinvar/312503 ^@ NM_052910.2(SLITRK1):c.913C>G (p.Pro305Ala) http://identifiers.org/clinvar/312553 ^@ NM_005708.4(GPC6):c.1524G>A (p.Thr508=) http://identifiers.org/clinvar/312653 ^@ NM_001376.4(DYNC1H1):c.11765C>T (p.Pro3922Leu) http://identifiers.org/clinvar/298927 ^@ NM_004132.4(HABP2):c.*418C>T http://identifiers.org/clinvar/298577 ^@ NM_016169.3(SUFU):c.*131C>G http://identifiers.org/clinvar/298627 ^@ NM_000102.3(CYP17A1):c.-14G>A http://identifiers.org/clinvar/298727 ^@ NM_000494.3(COL17A1):c.1687+15G>A http://identifiers.org/clinvar/299377 ^@ NM_001081.3(CUBN):c.9597C>T (p.Leu3199=) http://identifiers.org/clinvar/304944 ^@ NM_000256.3(MYBPC3):c.*95G>T http://identifiers.org/clinvar/305246 ^@ NM_144585.3(SLC22A12):c.1460G>A (p.Arg487Gln) http://identifiers.org/clinvar/305346 ^@ NM_032193.3(RNASEH2C):c.*542G>A http://identifiers.org/clinvar/305446 ^@ NM_053054.3(CATSPER1):c.402G>A (p.Gly134=) http://identifiers.org/clinvar/314442 ^@ NM_003239.4(TGFB3):c.*496G>A http://identifiers.org/clinvar/305796 ^@ NM_006019.3(TCIRG1):c.1042G>A (p.Val348Met) http://identifiers.org/clinvar/306046 ^@ NM_005472.4(KCNE3):c.*1431C>T http://identifiers.org/clinvar/300416 ^@ NM_022124.5(CDH23):c.2568C>G (p.Ile856Met) http://identifiers.org/clinvar/306209 ^@ NM_000260.3(MYO7A):c.*442T>C http://identifiers.org/clinvar/315442 ^@ NM_022807.4(SNRPN):c.-280C>T http://identifiers.org/clinvar/306259 ^@ NM_024698.5(SLC25A22):c.819-3C>T http://identifiers.org/clinvar/315592 ^@ NM_133647.1(SLC12A6):c.*1195A>G http://identifiers.org/clinvar/306410 ^@ NM_012193.3(FZD4):c.-12C>A http://identifiers.org/clinvar/317632 ^@ NM_000875.4(IGF1R):c.*6124G>A http://identifiers.org/clinvar/329304 ^@ NM_003573.2(LTBP4):c.788C>T (p.Ser263Phe) http://identifiers.org/clinvar/329404 ^@ NM_152296.4(ATP1A3):c.2487G>A (p.Pro829=) http://identifiers.org/clinvar/309859 ^@ NM_001029.3(RPS26):c.93C>T (p.Pro31=) http://identifiers.org/clinvar/329504 ^@ NM_000400.3(ERCC2):c.2127C>T (p.Thr709=) http://identifiers.org/clinvar/309959 ^@ NM_004984.2(KIF5A):c.*430_*433dupGCAC http://identifiers.org/clinvar/329654 ^@ NM_025136.3(OPA3):c.*1478A>G http://identifiers.org/clinvar/311503 ^@ NM_014363.5(SACS):c.12063T>C (p.His4021=) http://identifiers.org/clinvar/329904 ^@ NM_024729.3(MYH14):c.36G>A (p.Lys12=) http://identifiers.org/clinvar/330104 ^@ NM_015629.3(PRPF31):c.1147-9T>G http://identifiers.org/clinvar/330154 ^@ NM_206828.3(NLRP7):c.*5C>T http://identifiers.org/clinvar/311753 ^@ NM_015087.4(SPG20):c.*817A>T http://identifiers.org/clinvar/310309 ^@ NM_021150.3(GRIP1):c.1233G>A (p.Gly411=) http://identifiers.org/clinvar/310359 ^@ NM_000365.5(TPI1):c.261C>T (p.Cys87=) http://identifiers.org/clinvar/310409 ^@ NM_001131025.1(PEX5):c.-443T>C http://identifiers.org/clinvar/330304 ^@ NM_000064.3(C3):c.2430G>A (p.Ser810=) http://identifiers.org/clinvar/310459 ^@ NM_001131025.1(PEX5):c.*1134dupT http://identifiers.org/clinvar/312003 ^@ NM_207361.5(FREM2):c.6196C>T (p.Arg2066Cys) http://identifiers.org/clinvar/312303 ^@ NM_000321.2(RB1):c.*435A>G http://identifiers.org/clinvar/319173 ^@ NM_032444.2(SLX4):c.1740C>T (p.Ser580=) http://identifiers.org/clinvar/319223 ^@ NM_032575.2(GLIS2):c.1413C>G (p.Ser471Arg) http://identifiers.org/clinvar/312353 ^@ NM_000053.3(ATP7B):c.*1409A>C http://identifiers.org/clinvar/319373 ^@ NM_000293.2(PHKB):c.*523T>C http://identifiers.org/clinvar/319423 ^@ NM_022162.2(NOD2):c.52G>A (p.Val18Ile) http://identifiers.org/clinvar/312603 ^@ NM_005708.4(GPC6):c.*3869A>G http://identifiers.org/clinvar/338390 ^@ NM_005461.4(MAFB):c.*1210G>A http://identifiers.org/clinvar/338440 ^@ NM_000457.4(HNF4A):c.*392T>G http://identifiers.org/clinvar/312803 ^@ NM_020366.3(RPGRIP1):c.*44T>C http://identifiers.org/clinvar/312853 ^@ NM_002471.3(MYH6):c.4062G>A (p.Glu1354=) http://identifiers.org/clinvar/338540 ^@ NM_000308.3(CTSA):c.1407G>A (p.Thr469=) http://identifiers.org/clinvar/312903 ^@ NM_000257.3(MYH7):c.3035C>A (p.Ala1012Asp) http://identifiers.org/clinvar/338690 ^@ NM_006420.2(ARFGEF2):c.1585A>G (p.Ile529Val) http://identifiers.org/clinvar/311603 ^@ NM_018451.4(CENPJ):c.*267G>A http://identifiers.org/clinvar/339041 ^@ NM_001001433.2(STX16):c.-160G>A http://identifiers.org/clinvar/339091 ^@ NM_001001433.2(STX16):c.*2080G>A http://identifiers.org/clinvar/311903 ^@ NM_001127217.2(SMAD9):c.486C>T (p.Ser162=) http://identifiers.org/clinvar/312103 ^@ NM_207361.5(FREM2):c.*5552C>T http://identifiers.org/clinvar/312253 ^@ NM_003850.2(SUCLA2):c.*661C>G http://identifiers.org/clinvar/312403 ^@ NM_000053.3(ATP7B):c.-73G>T http://identifiers.org/clinvar/328465 ^@ NM_000215.3(JAK3):c.*1752A>G http://identifiers.org/clinvar/328515 ^@ NM_000215.3(JAK3):c.1550C>T (p.Pro517Leu) http://identifiers.org/clinvar/328615 ^@ NM_000095.2(COMP):c.1590C>A (p.Asp530Glu) http://identifiers.org/clinvar/328715 ^@ NM_001031726.3(C19orf12):c.*814G>A http://identifiers.org/clinvar/327415 ^@ NM_000140.3(FECH):c.*443A>C http://identifiers.org/clinvar/327465 ^@ NM_005603.4(ATP8B1):c.*102G>T http://identifiers.org/clinvar/329354 ^@ NM_030578.3(B9D2):c.-175G>A http://identifiers.org/clinvar/327665 ^@ NM_133459.3(CCBE1):c.*1771G>A http://identifiers.org/clinvar/329604 ^@ NM_025136.3(OPA3):c.*4585C>T http://identifiers.org/clinvar/327765 ^@ NM_005786.5(TSHZ1):c.-444dupG http://identifiers.org/clinvar/329704 ^@ NM_000554.5(CRX):c.*234G>A http://identifiers.org/clinvar/329754 ^@ NM_000554.5(CRX):c.*2113A>G http://identifiers.org/clinvar/329954 ^@ NM_024729.3(MYH14):c.*81A>G http://identifiers.org/clinvar/330254 ^@ NM_006087.3(TUBB4A):c.*400G>A http://identifiers.org/clinvar/330404 ^@ NM_000208.3(INSR):c.*1494G>A http://identifiers.org/clinvar/330454 ^@ NM_000208.3(INSR):c.2595C>T (p.Asn865=) http://identifiers.org/clinvar/330554 ^@ NM_006949.3(STXBP2):c.1134G>A (p.Glu378=) http://identifiers.org/clinvar/338340 ^@ NM_015474.3(SAMHD1):c.1735A>G (p.Thr579Ala) http://identifiers.org/clinvar/329454 ^@ NM_000483.4(APOC2):c.102G>A (p.Pro34=) http://identifiers.org/clinvar/329554 ^@ NM_025136.3(OPA3):c.*7015G>A http://identifiers.org/clinvar/338791 ^@ NM_000782.4(CYP24A1):c.*1091C>T http://identifiers.org/clinvar/338891 ^@ NM_002591.3(PCK1):c.1642G>A (p.Ala548Thr) http://identifiers.org/clinvar/330004 ^@ NM_144687.3(NLRP12):c.2927+14A>G http://identifiers.org/clinvar/339291 ^@ NM_001853.3(COL9A3):c.1401+11G>C http://identifiers.org/clinvar/339391 ^@ NM_025219.2(DNAJC5):c.*1391G>C http://identifiers.org/clinvar/339491 ^@ NM_012469.3(PRPF6):c.*7G>A http://identifiers.org/clinvar/339541 ^@ NM_015192.3(PLCB1):c.*1798T>G http://identifiers.org/clinvar/330504 ^@ NM_020533.2(MCOLN1):c.1360-13G>A http://identifiers.org/clinvar/330604 ^@ NM_030957.3(ADAMTS10):c.1530C>G (p.Thr510=) http://identifiers.org/clinvar/338490 ^@ NM_000457.4(HNF4A):c.*3013A>G http://identifiers.org/clinvar/338740 ^@ NM_006420.2(ARFGEF2):c.*2758A>T http://identifiers.org/clinvar/338841 ^@ NM_000782.4(CYP24A1):c.-37C>A http://identifiers.org/clinvar/340981 ^@ NM_022081.5(HPS4):c.*1237C>T http://identifiers.org/clinvar/338991 ^@ NM_004738.4(VAPB):c.*4306delT http://identifiers.org/clinvar/341131 ^@ NM_000268.3(NF2):c.*2032dupT http://identifiers.org/clinvar/339191 ^@ NM_017671.4(FERMT1):c.*951A>G http://identifiers.org/clinvar/341381 ^@ NM_000362.4(TIMP3):c.*2103C>T http://identifiers.org/clinvar/341481 ^@ NM_002473.5(MYH9):c.*243C>T http://identifiers.org/clinvar/341531 ^@ NM_002473.5(MYH9):c.933C>T (p.Pro311=) http://identifiers.org/clinvar/341631 ^@ NM_003560.2(PLA2G6):c.*191C>T http://identifiers.org/clinvar/341731 ^@ NM_022098.3(XPNPEP3):c.*3308T>C http://identifiers.org/clinvar/341781 ^@ NM_001429.3(EP300):c.678C>G (p.Gly226=) http://identifiers.org/clinvar/341981 ^@ NM_006953.3(UPK3A):c.549A>G (p.Ser183=) http://identifiers.org/clinvar/378995 ^@ NM_004333.4(BRAF):c.1694+8C>T http://identifiers.org/clinvar/388332 ^@ NM_020822.2(KCNT1):c.-1C>A http://identifiers.org/clinvar/390321 ^@ NM_032634.3(PIGO):c.-26G>T http://identifiers.org/clinvar/388082 ^@ NM_000051.3(ATM):c.6095+6T>C http://identifiers.org/clinvar/391721 ^@ NM_018389.4(SLC35C1):c.476A>G (p.Tyr159Cys) http://identifiers.org/clinvar/388682 ^@ NM_004519.3(KCNQ3):c.1623C>T (p.Tyr541=) http://identifiers.org/clinvar/391121 ^@ NM_000314.6(PTEN):c.1161A>G (p.Pro387=) http://identifiers.org/clinvar/389082 ^@ NM_000051.3(ATM):c.8208T>C (p.Asn2736=) http://identifiers.org/clinvar/379395 ^@ NM_006904.6(PRKDC):c.1623+6A>G http://identifiers.org/clinvar/379946 ^@ NM_024740.2(ALG9):c.1473-14T>C http://identifiers.org/clinvar/378237 ^@ NM_002485.4(NBN):c.1893A>G (p.Leu631=) http://identifiers.org/clinvar/379745 ^@ NM_001079802.1(FKTN):c.285T>C (p.His95=) http://identifiers.org/clinvar/380736 ^@ NM_001885.2(CRYAB):c.324+3A>G http://identifiers.org/clinvar/390571 ^@ NM_174934.3(SCN4B):c.606C>T (p.Leu202=) http://identifiers.org/clinvar/386193 ^@ NM_001130438.2(SPTAN1):c.4925C>A (p.Ala1642Asp) http://identifiers.org/clinvar/393010 ^@ NM_004572.3(PKP2):c.68G>A (p.Gly23Glu) http://identifiers.org/clinvar/391171 ^@ NM_014191.3(SCN8A):c.5118T>C (p.Gly1706=) http://identifiers.org/clinvar/388282 ^@ NM_024312.4(GNPTAB):c.2341G>A (p.Val781Met) http://identifiers.org/clinvar/378187 ^@ NM_000431.3(MVK):c.942T>A (p.Ser314=) http://identifiers.org/clinvar/391271 ^@ NM_000093.4(COL5A1):c.4386C>T (p.Gly1462=) http://identifiers.org/clinvar/388032 ^@ NM_020822.2(KCNT1):c.1885A>G (p.Lys629Glu) http://identifiers.org/clinvar/378593 ^@ NM_024698.5(SLC25A22):c.587+19G>A http://identifiers.org/clinvar/390971 ^@ NM_020297.3(ABCC9):c.2339+17A>T http://identifiers.org/clinvar/388582 ^@ NM_002206.2(ITGA7):c.2007T>C (p.Asp669=) http://identifiers.org/clinvar/390371 ^@ NM_004984.2(KIF5A):c.847A>G (p.Lys283Glu) http://identifiers.org/clinvar/378795 ^@ NM_001172696.1(TSFM):c.117T>A (p.Arg39=) http://identifiers.org/clinvar/389182 ^@ NM_001845.5(COL4A1):c.2228G>T (p.Gly743Val) http://identifiers.org/clinvar/392760 ^@ NM_002860.3(ALDH18A1):c.1636T>C (p.Cys546Arg) http://identifiers.org/clinvar/388232 ^@ NM_006939.3(SOS2):c.1448G>A (p.Ser483Asn) http://identifiers.org/clinvar/378845 ^@ NM_130838.1(UBE3A):c.2532G>A (p.Thr844=) http://identifiers.org/clinvar/388482 ^@ NM_000138.4(FBN1):c.6054C>T (p.Val2018=) http://identifiers.org/clinvar/378337 ^@ NM_000920.3(PC):c.3342G>A (p.Ala1114=) http://identifiers.org/clinvar/386393 ^@ NM_015346.3(ZFYVE26):c.7371+18C>T http://identifiers.org/clinvar/390021 ^@ NM_020778.4(ALPK3):c.564G>A (p.Glu188=) http://identifiers.org/clinvar/391371 ^@ NM_016013.3(NDUFAF1):c.-75T>C http://identifiers.org/clinvar/379695 ^@ NM_000138.4(FBN1):c.-28C>T http://identifiers.org/clinvar/386243 ^@ NM_012463.3(ATP6V0A2):c.1485C>T (p.Pro495=) http://identifiers.org/clinvar/386493 ^@ NM_006231.3(POLE):c.4445-10C>T http://identifiers.org/clinvar/388832 ^@ NM_000548.4(TSC2):c.336+5G>C http://identifiers.org/clinvar/390621 ^@ NM_000833.4(GRIN2A):c.1642G>C (p.Ala548Pro) http://identifiers.org/clinvar/47758 ^@ NM_001256850.1(TTN):c.10360+4332C>T http://identifiers.org/clinvar/47808 ^@ NM_133432.3(TTN):c.10736G>A (p.Gly3579Asp) http://identifiers.org/clinvar/47858 ^@ NM_138691.2(TMC1):c.1369T>C (p.Phe457Leu) http://identifiers.org/clinvar/47908 ^@ NM_144573.3(NEXN):c.613G>A (p.Glu205Lys) http://identifiers.org/clinvar/47958 ^@ NM_147196.2(TMIE):c.251G>T (p.Arg84Leu) http://identifiers.org/clinvar/48010 ^@ NM_153676.3(USH1C):c.2617G>A (p.Val873Met) http://identifiers.org/clinvar/48060 ^@ NM_005572.3(LMNA):c.331G>C (p.Glu111Gln) http://identifiers.org/clinvar/48160 ^@ NM_178335.2(CCDC50):c.976+6A>G http://identifiers.org/clinvar/48210 ^@ NM_194248.2(OTOF):c.2949C>T (p.Pro983=) http://identifiers.org/clinvar/48260 ^@ NM_194248.2(OTOF):c.5394C>T (p.Asp1798=) http://identifiers.org/clinvar/48310 ^@ NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) http://identifiers.org/clinvar/48361 ^@ NM_206933.2(USH2A):c.10858A>G (p.Ile3620Val) http://identifiers.org/clinvar/48411 ^@ NM_206933.2(USH2A):c.13022G>T (p.Cys4341Phe) http://identifiers.org/clinvar/48461 ^@ NM_206933.2(USH2A):c.15364T>C (p.Cys5122Arg) http://identifiers.org/clinvar/48512 ^@ NM_206933.2(USH2A):c.4133_4134dupTC (p.Asn1379Serfs) http://identifiers.org/clinvar/39 ^@ NM_001201543.1(FAM161A):c.1786C>T (p.Arg596Ter) http://identifiers.org/clinvar/55 ^@ NM_014985.3(CEP152):c.794A>C (p.Gln265Pro) http://identifiers.org/clinvar/96 ^@ NM_000355.3(TCN2):c.927_930delTCTG (p.Cys309Trpfs) http://identifiers.org/clinvar/215 ^@ NM_000285.3(PEPD):c.793C>T (p.Arg265Ter) http://identifiers.org/clinvar/270 ^@ NM_001134363.2(RBM20):c.1906C>A (p.Arg636Ser) http://identifiers.org/clinvar/472 ^@ NM_000035.3(ALDOB):c.178C>T (p.Arg60Ter) http://identifiers.org/clinvar/481 ^@ NM_000317.2(PTS):c.166G>A (p.Val56Met) http://identifiers.org/clinvar/663 ^@ NM_000312.3(PROC):c.1027G>A (p.Gly343Ser) http://identifiers.org/clinvar/695 ^@ NM_001145320.1(ADAMTSL2):c.340G>A (p.Glu114Lys) http://identifiers.org/clinvar/736 ^@ NM_001131034.3(RNF212):c.362+1497C>T http://identifiers.org/clinvar/872 ^@ NM_001127628.1(FBP1):c.851C>G (p.Pro284Arg) http://identifiers.org/clinvar/913 ^@ NM_000067.2(CA2):c.754A>G (p.Asn252Asp) http://identifiers.org/clinvar/2013 ^@ NM_001134831.1(AHI1):c.3263_3264delGG (p.Trp1088Leufs) http://identifiers.org/clinvar/2059 ^@ NM_152443.2(RDH12):c.464C>T (p.Thr155Ile) http://identifiers.org/clinvar/2104 ^@ NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro) http://identifiers.org/clinvar/2197 ^@ NM_001145809.1(MYH14):c.3049C>T (p.Leu1017Phe) http://identifiers.org/clinvar/2241 ^@ NM_000433.3(NCF2):c.304C>T (p.Arg102Ter) http://identifiers.org/clinvar/2287 ^@ NM_015046.5(SETX):c.2967_2971delGAAAG (p.Arg989Serfs) http://identifiers.org/clinvar/2332 ^@ NM_033071.3(SYNE1):c.24071G>A (p.Arg8024His) http://identifiers.org/clinvar/2379 ^@ NM_000709.3(BCKDHA):c.793C>T (p.Arg265Trp) http://identifiers.org/clinvar/2423 ^@ NM_001875.4(CPS1):c.4196A>C (p.Asn1399Thr) http://identifiers.org/clinvar/2469 ^@ NM_001172303.2(MASTL):c.501G>C (p.Glu167Asp) http://identifiers.org/clinvar/2514 ^@ NM_000346.3(SOX9):c.227C>A (p.Ala76Glu) http://identifiers.org/clinvar/2562 ^@ ALG8, IVS6DS, A-G, +4 http://identifiers.org/clinvar/2608 ^@ NM_001128085.1(ASPA):c.654C>A (p.Cys218Ter) http://identifiers.org/clinvar/2654 ^@ GORAB, 1-BP DEL, 257C http://identifiers.org/clinvar/2746 ^@ NM_004183.3(BEST1):c.707A>G (p.Tyr236Cys) http://identifiers.org/clinvar/2791 ^@ NM_000158.3(GBE1):c.784C>T (p.Arg262Cys) http://identifiers.org/clinvar/2836 ^@ ACAT1, IVS10, G-C, -1 http://identifiers.org/clinvar/2882 ^@ NM_025193.3(HSD3B7):c.294dupC (p.Lys99Glnfs) http://identifiers.org/clinvar/2927 ^@ SAR1B, 349, G-C, -1 http://identifiers.org/clinvar/2972 ^@ NM_000271.4(NPC1):c.3104C>T (p.Ala1035Val) http://identifiers.org/clinvar/3017 ^@ NM_176824.2(BBS7):c.709_712delAAGA (p.Lys237Glufs) http://identifiers.org/clinvar/3067 ^@ NM_000487.5(ARSA):c.470C>G (p.Pro157Arg) http://identifiers.org/clinvar/3114 ^@ NM_000218.2(KCNQ1):c.565G>A (p.Gly189Arg) http://identifiers.org/clinvar/3166 ^@ NM_000187.3(HGD):c.899T>G (p.Val300Gly) http://identifiers.org/clinvar/375730 ^@ NG_008872.1:g.16740_20819del4080 http://identifiers.org/clinvar/12939 ^@ NM_003124.4(SPR):c.355C>T (p.Gln119Ter) http://identifiers.org/clinvar/12990 ^@ NM_000540.2(RYR1):c.14365-2A>T http://identifiers.org/clinvar/13040 ^@ NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) http://identifiers.org/clinvar/13092 ^@ NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) http://identifiers.org/clinvar/13142 ^@ NM_000448.2(RAG1):c.467C>T (p.Ala156Val) http://identifiers.org/clinvar/13451 ^@ NM_000371.3(TTR):c.200G>C (p.Gly67Ala) http://identifiers.org/clinvar/13502 ^@ NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) http://identifiers.org/clinvar/13552 ^@ NM_006206.4(PDGFRA):c.1664A>G (p.Tyr555Cys) http://identifiers.org/clinvar/39446 ^@ NM_003863.3(DPM2):c.68A>G (p.Tyr23Cys) http://identifiers.org/clinvar/40515 ^@ NM_002834.4(PTPN11):c.486C>T (p.Asp162=) http://identifiers.org/clinvar/40574 ^@ NM_002880.3(RAF1):c.-281C>G http://identifiers.org/clinvar/40637 ^@ NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) http://identifiers.org/clinvar/40721 ^@ NM_005633.3(SOS1):c.3257C>T (p.Pro1086Leu) http://identifiers.org/clinvar/40818 ^@ NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) http://identifiers.org/clinvar/40998 ^@ NM_000132.2:c.*8899A>G http://identifiers.org/clinvar/41058 ^@ NM_003611.2(OFD1):c.111+2T>C http://identifiers.org/clinvar/41114 ^@ NM_003611.2(OFD1):c.382-?_412+?del http://identifiers.org/clinvar/41220 ^@ NM_004562.2(PRKN):c.1096C>T (p.Arg366Trp) http://identifiers.org/clinvar/51281 ^@ NM_000059.3(BRCA2):c.2428A>G (p.Thr810Ala) http://identifiers.org/clinvar/51332 ^@ NM_000059.3(BRCA2):c.2731delG (p.Glu911Lysfs) http://identifiers.org/clinvar/51382 ^@ NM_000059.3(BRCA2):c.298A>T (p.Lys100Ter) http://identifiers.org/clinvar/51432 ^@ NM_000059.3(BRCA2):c.3254A>G (p.His1085Arg) http://identifiers.org/clinvar/51484 ^@ NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) http://identifiers.org/clinvar/51535 ^@ NM_000059.3(BRCA2):c.3836delA (p.Asn1279Metfs) http://identifiers.org/clinvar/51587 ^@ NM_000059.3(BRCA2):c.4048_4051delCATA (p.His1350Lysfs) http://identifiers.org/clinvar/51639 ^@ NM_000059.3(BRCA2):c.438delA (p.Gln147Asnfs) http://identifiers.org/clinvar/51690 ^@ NM_000059.3(BRCA2):c.4656T>C (p.Gly1552=) http://identifiers.org/clinvar/51741 ^@ NM_000059.3(BRCA2):c.4925A>C (p.Asn1642Thr) http://identifiers.org/clinvar/51793 ^@ NM_000059.3(BRCA2):c.5167A>C (p.Thr1723Pro) http://identifiers.org/clinvar/51844 ^@ NM_000059.3(BRCA2):c.5350_5351delAAinsT (p.Asn1784Serfs) http://identifiers.org/clinvar/51897 ^@ NM_000059.3(BRCA2):c.5641_5644delAAAT (p.Lys1881Glnfs) http://identifiers.org/clinvar/51949 ^@ NM_000059.3(BRCA2):c.5836_5837insA (p.Ser1946Tyrfs) http://identifiers.org/clinvar/52001 ^@ NM_000059.3(BRCA2):c.6071A>G (p.Gln2024Arg) http://identifiers.org/clinvar/52052 ^@ NM_000059.3(BRCA2):c.6308C>A (p.Ser2103Ter) http://identifiers.org/clinvar/52106 ^@ NM_000059.3(BRCA2):c.644_646delAAG (p.Glu215del) http://identifiers.org/clinvar/52157 ^@ NM_000059.3(BRCA2):c.6684delA (p.Glu2229Lysfs) http://identifiers.org/clinvar/52207 ^@ NM_000059.3(BRCA2):c.6842-112T>G http://identifiers.org/clinvar/52258 ^@ NM_000059.3(BRCA2):c.7055C>T (p.Pro2352Leu) http://identifiers.org/clinvar/52309 ^@ NM_000059.3(BRCA2):c.7322G>C (p.Gly2441Ala) http://identifiers.org/clinvar/52359 ^@ NM_000059.3(BRCA2):c.7593delT (p.Ser2533Leufs) http://identifiers.org/clinvar/52410 ^@ NM_000059.3(BRCA2):c.7805+1G>A http://identifiers.org/clinvar/52460 ^@ NM_000059.3(BRCA2):c.7980_7984delTGATA (p.Asp2661Glyfs) http://identifiers.org/clinvar/52510 ^@ NM_000059.3(BRCA2):c.8135A>T (p.Asp2712Val) http://identifiers.org/clinvar/52561 ^@ NM_000059.3(BRCA2):c.8356G>C (p.Ala2786Pro) http://identifiers.org/clinvar/52611 ^@ NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) http://identifiers.org/clinvar/52663 ^@ NM_000059.3(BRCA2):c.8730delT (p.Asn2910Lysfs) http://identifiers.org/clinvar/52713 ^@ NM_000059.3(BRCA2):c.8956dupA (p.Ile2986Asnfs) http://identifiers.org/clinvar/53169 ^@ NM_000492.3(CFTR):c.1029_1030insG (p.Ile344Aspfs) http://identifiers.org/clinvar/54178 ^@ NM_007294.3(BRCA1):c.1258G>T (p.Asp420Tyr) http://identifiers.org/clinvar/54228 ^@ NM_007294.3(BRCA1):c.1383T>A (p.Phe461Leu) http://identifiers.org/clinvar/54279 ^@ NM_007294.3(BRCA1):c.1511dupG (p.Lys505Terfs) http://identifiers.org/clinvar/54329 ^@ NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) http://identifiers.org/clinvar/54380 ^@ NM_007294.3(BRCA1):c.1884T>G (p.Ser628Arg) http://identifiers.org/clinvar/54430 ^@ NM_007294.3(BRCA1):c.1999C>T (p.Gln667Ter) http://identifiers.org/clinvar/54480 ^@ NM_007294.3(BRCA1):c.2166delC (p.Asn723Ilefs) http://identifiers.org/clinvar/54530 ^@ NM_007294.3(BRCA1):c.230delCinsGTCAACTTGTT (p.Thr77Serfs) http://identifiers.org/clinvar/54580 ^@ NM_007294.3(BRCA1):c.2481A>C (p.Glu827Asp) http://identifiers.org/clinvar/54630 ^@ NM_007294.3(BRCA1):c.2659_2660insA (p.Ala887Aspfs) http://identifiers.org/clinvar/54680 ^@ NM_007294.3(BRCA1):c.2789C>T (p.Pro930Leu) http://identifiers.org/clinvar/54730 ^@ NM_007294.3(BRCA1):c.2952dupT (p.Pro985Serfs) http://identifiers.org/clinvar/54780 ^@ NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) http://identifiers.org/clinvar/54830 ^@ NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) http://identifiers.org/clinvar/54880 ^@ NM_007294.3(BRCA1):c.3428C>T (p.Ser1143Phe) http://identifiers.org/clinvar/54930 ^@ NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) http://identifiers.org/clinvar/54982 ^@ NM_007294.3(BRCA1):c.3724A>G (p.Thr1242Ala) http://identifiers.org/clinvar/55033 ^@ NM_007294.3(BRCA1):c.3871_3872insC (p.Cys1291Serfs) http://identifiers.org/clinvar/55084 ^@ NM_007294.3(BRCA1):c.4045A>C (p.Thr1349Pro) http://identifiers.org/clinvar/55135 ^@ NM_007294.3(BRCA1):c.4186C>T (p.Gln1396Ter) http://identifiers.org/clinvar/55185 ^@ NM_007294.3(BRCA1):c.4379G>A (p.Ser1460Asn) http://identifiers.org/clinvar/55236 ^@ NM_007294.3(BRCA1):c.4603G>T (p.Glu1535Ter) http://identifiers.org/clinvar/55286 ^@ NM_007294.3(BRCA1):c.4777A>T (p.Ile1593Leu) http://identifiers.org/clinvar/55337 ^@ NM_007294.3(BRCA1):c.4967G>A (p.Gly1656Asp) http://identifiers.org/clinvar/55387 ^@ NM_007294.3(BRCA1):c.5080G>T (p.Glu1694Ter) http://identifiers.org/clinvar/55437 ^@ NM_007294.3(BRCA1):c.5156_5157delTG (p.Val1719Aspfs) http://identifiers.org/clinvar/56200 ^@ NM_000310.3(PPT1):c.536+2T>C http://identifiers.org/clinvar/56251 ^@ NM_001042432.1(CLN3):c.1198-1G>T http://identifiers.org/clinvar/56301 ^@ NM_001080522.2(CC2D2A):c.3084delG (p.Lys1029Argfs) http://identifiers.org/clinvar/56353 ^@ NM_001126105.2(SLC7A7):c.1262delC (p.Pro421Argfs) http://identifiers.org/clinvar/56405 ^@ NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) http://identifiers.org/clinvar/56455 ^@ NM_004646.3(NPHS1):c.191G>C (p.Trp64Ser) http://identifiers.org/clinvar/56505 ^@ NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) http://identifiers.org/clinvar/56556 ^@ NM_012434.4(SLC17A5):c.507delA (p.Leu170Terfs) http://identifiers.org/clinvar/56714 ^@ NM_018941.3(CLN8):c.581A>G (p.Gln194Arg) http://identifiers.org/clinvar/56764 ^@ NM_153704.5(TMEM67):c.1319G>A (p.Arg440Gln) http://identifiers.org/clinvar/56847 ^@ NM_001199107.1(TBC1D24):c.468C>A (p.Cys156Ter) http://identifiers.org/clinvar/57024 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1 http://identifiers.org/clinvar/57078 ^@ GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3 http://identifiers.org/clinvar/57133 ^@ GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 http://identifiers.org/clinvar/57184 ^@ GRCh38/hg38 Xq22.3(chrX:108318888-108778027)x2 http://identifiers.org/clinvar/57237 ^@ GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 http://identifiers.org/clinvar/57290 ^@ GRCh38/hg38 17q21.31(chr17:45578381-46111134)x1 http://identifiers.org/clinvar/57343 ^@ GRCh38/hg38 10q26.3(chr10:129324053-129974086)x3 http://identifiers.org/clinvar/57395 ^@ GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1 http://identifiers.org/clinvar/101162 ^@ NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp) http://identifiers.org/clinvar/101212 ^@ NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp) http://identifiers.org/clinvar/101262 ^@ NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser) http://identifiers.org/clinvar/101312 ^@ NM_000090.3(COL3A1):c.951+4A>T (p.Gly300_Ala317del) http://identifiers.org/clinvar/101362 ^@ NM_000090.3(COL3A1):c.2105G>T (p.Gly702Val) http://identifiers.org/clinvar/101412 ^@ NP_000081.1:p.Gly1122_Arg1139del+ http://identifiers.org/clinvar/101462 ^@ NM_000090.3(COL3A1):c.1978-6_1981del (p.Gly660_Lys662del) http://identifiers.org/clinvar/101518 ^@ NM_198173.2(GRHL3):c.893G>A (p.Arg298His) http://identifiers.org/clinvar/102475 ^@ NM_000277.1(PAH):c.1024delG (p.Ala342Hisfs) http://identifiers.org/clinvar/102530 ^@ NM_000277.1(PAH):c.1117_1118delGC (p.Ala373Hisfs) http://identifiers.org/clinvar/102583 ^@ NM_000277.1(PAH):c.1264G>A (p.Glu422Lys) http://identifiers.org/clinvar/102637 ^@ NM_000277.1(PAH):c.241A>C (p.Thr81Pro) http://identifiers.org/clinvar/102690 ^@ NM_000277.1(PAH):c.470G>A (p.Arg157Lys) http://identifiers.org/clinvar/102740 ^@ NM_000277.1(PAH):c.569T>C (p.Val190Ala) http://identifiers.org/clinvar/102791 ^@ NM_000277.1(PAH):c.704A>C (p.Gln235Pro) http://identifiers.org/clinvar/102841 ^@ NM_000277.1(PAH):c.802T>C (p.Tyr268His) http://identifiers.org/clinvar/102893 ^@ NM_000277.1(PAH):c.913-5T>G http://identifiers.org/clinvar/102951 ^@ NM_176821.3(NLRP10):c.-304G>A http://identifiers.org/clinvar/127398 ^@ NM_000051.3(ATM):c.506C>G (p.Ser169Cys) http://identifiers.org/clinvar/127448 ^@ NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) http://identifiers.org/clinvar/127499 ^@ NM_000057.3(BLM):c.3427G>A (p.Glu1143Lys) http://identifiers.org/clinvar/127549 ^@ NM_000136.2(FANCC):c.943A>G (p.Ile315Val) http://identifiers.org/clinvar/127599 ^@ NM_000179.2(MSH6):c.515T>C (p.Ile172Thr) http://identifiers.org/clinvar/127650 ^@ NM_000251.2(MSH2):c.686_687delAA (p.Lys229Serfs) http://identifiers.org/clinvar/127709 ^@ NM_000455.4(STK11):c.920+5G>A http://identifiers.org/clinvar/127759 ^@ NM_000535.6(PMS2):c.127G>A (p.Val43Ile) http://identifiers.org/clinvar/127810 ^@ NM_000546.5(TP53):c.466C>T (p.Arg156Cys) http://identifiers.org/clinvar/159944 ^@ NM_006306.3(SMC1A):c.1754T>C (p.Leu585Pro) http://identifiers.org/clinvar/161397 ^@ NM_000546.5(TP53):c.665C>T (p.Pro222Leu) http://identifiers.org/clinvar/161615 ^@ NM_003439.3(ZKSCAN1):c.1454G>A (p.Gly485Glu) http://identifiers.org/clinvar/161715 ^@ NM_018310.3(BRF2):c.277G>A (p.Ala93Thr) http://identifiers.org/clinvar/161665 ^@ NM_013279.3(MYRF):c.1229C>T (p.Thr410Met) http://identifiers.org/clinvar/161565 ^@ NM_001199823.2(NEDD8-MDP1):c.451C>G (p.Leu151Val) http://identifiers.org/clinvar/161465 ^@ NM_000346.3(SOX9):c.61G>A (p.Ala21Thr) http://identifiers.org/clinvar/161515 ^@ NM_001126115.1(TP53):c.318T>G (p.Cys106Trp) http://identifiers.org/clinvar/161815 ^@ NM_152476.2(ZNF560):c.1096C>A (p.His366Asn) http://identifiers.org/clinvar/161765 ^@ NM_022829.5(SLC13A3):c.1637G>A (p.Arg546Gln) http://identifiers.org/clinvar/161977 ^@ NM_001845.5(COL4A1):c.2122G>A (p.Gly708Arg) http://identifiers.org/clinvar/162044 ^@ NM_023067.3(FOXL2):c.965_983dup19 (p.Thr329Glnfs) http://identifiers.org/clinvar/162101 ^@ NM_000059.3(BRCA2):c.787dupA (p.Ser263Lysfs) http://identifiers.org/clinvar/162164 ^@ NM_017918.4(MCUB):c.451+4929G>T http://identifiers.org/clinvar/162376 ^@ NM_001009944.2(PKD1):c.1281_1283delGGC (p.Ala428del) http://identifiers.org/clinvar/162456 ^@ NM_014305.3(TGDS):c.700T>C (p.Tyr234His) http://identifiers.org/clinvar/162509 ^@ NM_000313.3(PROS1):c.728-1G>A http://identifiers.org/clinvar/162591 ^@ NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) http://identifiers.org/clinvar/179234 ^@ NM_031475.2(ESPN):c.439G>A (p.Ala147Thr) http://identifiers.org/clinvar/179384 ^@ NM_005572.3(LMNA):c.1300_1307delGCACGCAC (p.Ala434Terfs) http://identifiers.org/clinvar/179584 ^@ NM_001103.3(ACTN2):c.1975-6C>A http://identifiers.org/clinvar/167631 ^@ NM_001035.2(RYR2):c.10231-4T>C http://identifiers.org/clinvar/179334 ^@ NM_133378.4(TTN):c.79028_79030delAAG (p.Glu26343del) http://identifiers.org/clinvar/166437 ^@ NM_206933.2(USH2A):c.12358C>T (p.Arg4120Cys) http://identifiers.org/clinvar/179134 ^@ NM_133378.4(TTN):c.62571delT (p.Ser20857Argfs) http://identifiers.org/clinvar/179634 ^@ NM_133378.4(TTN):c.100193G>A (p.Gly33398Asp) http://identifiers.org/clinvar/178984 ^@ NM_133378.4(TTN):c.38191+1G>A http://identifiers.org/clinvar/179484 ^@ NM_133378.4(TTN):c.22613A>G (p.Asn7538Ser) http://identifiers.org/clinvar/178833 ^@ NM_133378.4(TTN):c.14681C>A (p.Ser4894Tyr) http://identifiers.org/clinvar/163145 ^@ NM_001369.2(DNAH5):c.6264C>T (p.Ala2088=) http://identifiers.org/clinvar/179434 ^@ NM_004415.3(DSP):c.3956C>G (p.Thr1319Ser) http://identifiers.org/clinvar/162841 ^@ NM_181426.1(CCDC39):c.2230C>G (p.Gln744Glu) http://identifiers.org/clinvar/179034 ^@ NM_003280.2(TNNC1):c.108C>A (p.Ile36=) http://identifiers.org/clinvar/179684 ^@ NM_004999.3(MYO6):c.3207T>C (p.Ala1069=) http://identifiers.org/clinvar/163095 ^@ NM_001277115.1(DNAH11):c.1199C>T (p.Thr400Ile) http://identifiers.org/clinvar/178733 ^@ NM_001277115.1(DNAH11):c.10739G>A (p.Arg3580His) http://identifiers.org/clinvar/198431 ^@ NM_000546.5(TP53):c.704_709delACTACA (p.Asn235_Tyr236del) http://identifiers.org/clinvar/198481 ^@ NM_001131005.2(MEF2C):c.753A>G (p.Pro251=) http://identifiers.org/clinvar/198535 ^@ NM_005957.4(MTHFR):c.1034G>A (p.Arg345His) http://identifiers.org/clinvar/198587 ^@ NM_022350.4(ERAP2):c.1232T>G (p.Leu411Arg) http://identifiers.org/clinvar/198639 ^@ NM_005529.6(HSPG2):c.9274G>A (p.Val3092Met) http://identifiers.org/clinvar/198689 ^@ NM_000033.3(ABCD1):c.1792A>G (p.Met598Val) http://identifiers.org/clinvar/198744 ^@ NM_000550.2(TYRP1):c.1500G>A (p.Leu500=) http://identifiers.org/clinvar/198796 ^@ NM_004385.4(VCAN):c.6767T>C (p.Leu2256Pro) http://identifiers.org/clinvar/198850 ^@ NM_001199397.1(NEK1):c.594A>G (p.Thr198=) http://identifiers.org/clinvar/198903 ^@ NM_022455.4(NSD1):c.4217_4220delGAAA (p.Arg1406Asnfs) http://identifiers.org/clinvar/198956 ^@ NM_001080463.1(DYNC2H1):c.12103G>T (p.Gly4035Cys) http://identifiers.org/clinvar/199008 ^@ NM_000292.2(PHKA2):c.899G>A (p.Gly300Asp) http://identifiers.org/clinvar/199058 ^@ NM_001101426.3(ISPD):c.1151C>T (p.Pro384Leu) http://identifiers.org/clinvar/199112 ^@ NM_005592.3(MUSK):c.929A>C (p.Gln310Pro) http://identifiers.org/clinvar/199163 ^@ NM_022098.3(XPNPEP3):c.1244G>A (p.Arg415Gln) http://identifiers.org/clinvar/199219 ^@ NM_033071.3(SYNE1):c.17292C>T (p.Leu5764=) http://identifiers.org/clinvar/199654 ^@ NM_207111.3(RNF216):c.1367G>A (p.Gly456Glu) http://identifiers.org/clinvar/201367 ^@ NM_001035.2(RYR2):c.512_514delAAG (p.Glu171del) http://identifiers.org/clinvar/201257 ^@ NM_001035.2(RYR2):c.5717T>C (p.Met1906Thr) http://identifiers.org/clinvar/201311 ^@ NM_001035.2(RYR2):c.11318T>C (p.Val3773Ala) http://identifiers.org/clinvar/199719 ^@ NM_000090.3(COL3A1):c.1223G>A (p.Gly408Glu) http://identifiers.org/clinvar/201424 ^@ NM_198056.2(SCN5A):c.5802C>T (p.Ser1934=) http://identifiers.org/clinvar/201479 ^@ NM_198056.2(SCN5A):c.2756T>C (p.Phe919Ser) http://identifiers.org/clinvar/199884 ^@ NM_004415.3(DSP):c.4198C>T (p.Arg1400Ter) http://identifiers.org/clinvar/199940 ^@ NM_004415.3(DSP):c.7575C>T (p.Gly2525=) http://identifiers.org/clinvar/200001 ^@ NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) http://identifiers.org/clinvar/199774 ^@ NM_024422.4(DSC2):c.2396G>A (p.Gly799Glu) http://identifiers.org/clinvar/199829 ^@ NM_001943.4(DSG2):c.862G>A (p.Val288Ile) http://identifiers.org/clinvar/201926 ^@ NM_144573.3(NEXN):c.1471G>C (p.Glu491Gln) http://identifiers.org/clinvar/202040 ^@ NM_002667.4(PLN):c.73C>T (p.Arg25Cys) http://identifiers.org/clinvar/201870 ^@ NM_032578.3(MYPN):c.2236A>G (p.Thr746Ala) http://identifiers.org/clinvar/202158 ^@ NM_014000.2(VCL):c.1298G>A (p.Arg433His) http://identifiers.org/clinvar/201981 ^@ NM_004572.3(PKP2):c.1170+5G>A http://identifiers.org/clinvar/201817 ^@ NM_002230.2(JUP):c.802G>A (p.Asp268Asn) http://identifiers.org/clinvar/201762 ^@ NM_001390.4(DTNA):c.1373G>C (p.Ser458Thr) http://identifiers.org/clinvar/202097 ^@ NM_000116.4(TAZ):c.779T>G (p.Val260Gly) http://identifiers.org/clinvar/202208 ^@ NM_015166.3(MLC1):c.223delG (p.Val75Cysfs) http://identifiers.org/clinvar/203102 ^@ NM_001256850.1(TTN):c.101017G>A (p.Ala33673Thr) http://identifiers.org/clinvar/203052 ^@ NM_001256850.1(TTN):c.95028T>G (p.Asp31676Glu) http://identifiers.org/clinvar/203002 ^@ NM_001256850.1(TTN):c.89359C>A (p.Arg29787Ser) http://identifiers.org/clinvar/202493 ^@ NM_001256850.1(TTN):c.89180_89184delTTAAA (p.Ile29727Serfs) http://identifiers.org/clinvar/202281 ^@ NM_001256850.1(TTN):c.88521C>T (p.Tyr29507=) http://identifiers.org/clinvar/202952 ^@ NM_001256850.1(TTN):c.83797C>T (p.Arg27933Cys) http://identifiers.org/clinvar/202331 ^@ NM_001256850.1(TTN):c.73207A>G (p.Ile24403Val) http://identifiers.org/clinvar/202802 ^@ NM_001256850.1(TTN):c.61693T>C (p.Cys20565Arg) http://identifiers.org/clinvar/232569 ^@ NM_005732.3(RAD50):c.129+2T>A http://identifiers.org/clinvar/231180 ^@ NM_005732.3(RAD50):c.561dupA (p.Ala188Serfs) http://identifiers.org/clinvar/231480 ^@ NM_005732.3(RAD50):c.1761T>A (p.Ile587=) http://identifiers.org/clinvar/230630 ^@ NM_005732.3(RAD50):c.2085A>G (p.Gln695=) http://identifiers.org/clinvar/232970 ^@ NM_005732.3(RAD50):c.2378C>T (p.Thr793Ile) http://identifiers.org/clinvar/230180 ^@ NM_002485.4(NBN):c.343G>T (p.Ala115Ser) http://identifiers.org/clinvar/233772 ^@ NM_000051.3(ATM):c.205C>T (p.Gln69Ter) http://identifiers.org/clinvar/232670 ^@ NM_000051.3(ATM):c.634T>C (p.Phe212Leu) http://identifiers.org/clinvar/232870 ^@ NM_000051.3(ATM):c.1066-1G>A http://identifiers.org/clinvar/230430 ^@ NM_000051.3(ATM):c.1340G>A (p.Arg447Gln) http://identifiers.org/clinvar/231580 ^@ NM_000051.3(ATM):c.1421G>T (p.Ser474Ile) http://identifiers.org/clinvar/233370 ^@ NM_000051.3(ATM):c.1821A>G (p.Val607=) http://identifiers.org/clinvar/231030 ^@ NM_000051.3(ATM):c.2557T>C (p.Ser853Pro) http://identifiers.org/clinvar/231280 ^@ NM_000051.3(ATM):c.4699G>A (p.Asp1567Asn) http://identifiers.org/clinvar/230580 ^@ NM_000051.3(ATM):c.6897C>T (p.Phe2299=) http://identifiers.org/clinvar/232770 ^@ NM_005591.3(MRE11):c.2051T>C (p.Val684Ala) http://identifiers.org/clinvar/233170 ^@ NM_000059.3(BRCA2):c.1162G>T (p.Val388Leu) http://identifiers.org/clinvar/233020 ^@ NM_000059.3(BRCA2):c.2108C>T (p.Thr703Ile) http://identifiers.org/clinvar/231530 ^@ NM_000059.3(BRCA2):c.3900G>A (p.Met1300Ile) http://identifiers.org/clinvar/230730 ^@ NM_000059.3(BRCA2):c.8201C>T (p.Pro2734Leu) http://identifiers.org/clinvar/230680 ^@ NM_000059.3(BRCA2):c.8411C>A (p.Pro2804His) http://identifiers.org/clinvar/232519 ^@ NM_000059.3(BRCA2):c.10029A>G (p.Glu3343=) http://identifiers.org/clinvar/233570 ^@ NM_024675.3(PALB2):c.3396_3405delGACTTCTGGA (p.Thr1133Glnfs) http://identifiers.org/clinvar/232620 ^@ NM_024675.3(PALB2):c.2448C>G (p.Phe816Leu) http://identifiers.org/clinvar/230480 ^@ NM_004360.4(CDH1):c.2152C>G (p.Leu718Val) http://identifiers.org/clinvar/233720 ^@ NM_001042492.2(NF1):c.1528-1G>A http://identifiers.org/clinvar/230880 ^@ NM_001042492.2(NF1):c.2361A>G (p.Ala787=) http://identifiers.org/clinvar/233070 ^@ NM_001042492.2(NF1):c.3039G>A (p.Thr1013=) http://identifiers.org/clinvar/231680 ^@ NM_001042492.2(NF1):c.6758G>A (p.Gly2253Glu) http://identifiers.org/clinvar/231230 ^@ NM_002878.3(RAD51D):c.621G>A (p.Ser207=) http://identifiers.org/clinvar/232820 ^@ NM_007294.3(BRCA1):c.5328delC (p.Thr1777Glnfs) http://identifiers.org/clinvar/233320 ^@ NM_007294.3(BRCA1):c.4192G>T (p.Asp1398Tyr) http://identifiers.org/clinvar/231080 ^@ NM_007294.3(BRCA1):c.3964A>C (p.Lys1322Gln) http://identifiers.org/clinvar/233620 ^@ NM_007294.3(BRCA1):c.3361A>C (p.Asn1121His) http://identifiers.org/clinvar/230930 ^@ NM_007294.3(BRCA1):c.3227G>T (p.Arg1076Ile) http://identifiers.org/clinvar/231630 ^@ NM_007294.3(BRCA1):c.2811G>A (p.Lys937=) http://identifiers.org/clinvar/230530 ^@ NM_007294.3(BRCA1):c.1113T>C (p.Pro371=) http://identifiers.org/clinvar/233670 ^@ NM_058216.2(RAD51C):c.288C>G (p.Thr96=) http://identifiers.org/clinvar/232920 ^@ NM_032043.2(BRIP1):c.3737C>T (p.Pro1246Leu) http://identifiers.org/clinvar/233220 ^@ NM_000455.4(STK11):c.969_971delACC (p.Pro324del) http://identifiers.org/clinvar/235276 ^@ NM_012463.3(ATP6V0A2):c.2054G>A (p.Arg685Gln) http://identifiers.org/clinvar/235383 ^@ NM_172362.2(KCNH1):c.1136T>C (p.Leu379Pro) http://identifiers.org/clinvar/235438 ^@ NC_012920.1:m.4388A>G http://identifiers.org/clinvar/235491 ^@ NM_000047.2(ARSE):c.775C>G (p.His259Asp) http://identifiers.org/clinvar/235544 ^@ NC_012920.1:m.4823T>C http://identifiers.org/clinvar/235595 ^@ NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) http://identifiers.org/clinvar/235645 ^@ NM_020732.3(ARID1B):c.1019C>T (p.Ala340Val) http://identifiers.org/clinvar/235701 ^@ NM_001286577.1(C2CD3):c.3695A>G (p.Asn1232Ser) http://identifiers.org/clinvar/235762 ^@ NM_006019.3(TCIRG1):c.-5+558dupC http://identifiers.org/clinvar/235835 ^@ NM_052867.2(NALCN):c.1534T>G (p.Phe512Val) http://identifiers.org/clinvar/235916 ^@ NM_001168272.1(ITPR1):c.2137C>T (p.Arg713Ter) http://identifiers.org/clinvar/236119 ^@ NM_000350.2(ABCA4):c.4635C>T (p.Ser1545=) http://identifiers.org/clinvar/236069 ^@ NM_000350.2(ABCA4):c.67-1G>C http://identifiers.org/clinvar/236169 ^@ NM_004621.5(TRPC6):c.1510+24T>C http://identifiers.org/clinvar/236255 ^@ NM_178012.4(TUBB2B):c.716G>T (p.Cys239Phe) http://identifiers.org/clinvar/236308 ^@ NC_000015.8:g.21200233_26762141dup5561909 http://identifiers.org/clinvar/236358 ^@ NC_000007.12:g.146128251_146431039del302789 http://identifiers.org/clinvar/236408 ^@ NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) http://identifiers.org/clinvar/236459 ^@ NM_016247.3(IMPG2):c.2412_2413delTG (p.Ala805Terfs) http://identifiers.org/clinvar/236509 ^@ NM_001297.4(CNGB1):c.2893G>A (p.Gly965Ser) http://identifiers.org/clinvar/238355 ^@ NM_001128425.1(MUTYH):c.950T>C (p.Leu317Pro) http://identifiers.org/clinvar/238605 ^@ NM_001165963.1(SCN1A):c.5798G>T (p.Arg1933Leu) http://identifiers.org/clinvar/238855 ^@ NM_001267550.2(TTN):c.86560G>A (p.Val28854Met) http://identifiers.org/clinvar/238805 ^@ NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter) http://identifiers.org/clinvar/238755 ^@ NM_001267550.2(TTN):c.36830C>T (p.Ala12277Val) http://identifiers.org/clinvar/238705 ^@ NM_001267550.2(TTN):c.12830G>A (p.Ser4277Asn) http://identifiers.org/clinvar/240949 ^@ NM_014946.3(SPAST):c.1493+18G>T http://identifiers.org/clinvar/240999 ^@ NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) http://identifiers.org/clinvar/238105 ^@ NM_000551.3(VHL):c.324C>T (p.Arg108=) http://identifiers.org/clinvar/237755 ^@ NM_000388.3(CASR):c.1188A>G (p.Thr396=) http://identifiers.org/clinvar/238305 ^@ NM_001106.3(ACVR2B):c.666+5G>A http://identifiers.org/clinvar/236559 ^@ NM_000038.5(APC):c.1398G>A (p.Met466Ile) http://identifiers.org/clinvar/236609 ^@ NM_000038.5(APC):c.4783G>C (p.Ala1595Pro) http://identifiers.org/clinvar/236659 ^@ NM_000038.5(APC):c.8508G>T (p.Gly2836=) http://identifiers.org/clinvar/238955 ^@ NM_001369.2(DNAH5):c.1090-8T>C http://identifiers.org/clinvar/238655 ^@ NM_001206927.1(DNAH8):c.725G>A (p.Arg242His) http://identifiers.org/clinvar/240849 ^@ NM_012123.3(MTO1):c.620C>T (p.Thr207Met) http://identifiers.org/clinvar/237855 ^@ NM_000492.3(CFTR):c.274-6T>C http://identifiers.org/clinvar/237905 ^@ NM_000535.6(PMS2):c.2278C>T (p.Pro760Ser) http://identifiers.org/clinvar/258508 ^@ NM_001999.3(FBN2):c.1410C>A (p.Gly470=) http://identifiers.org/clinvar/258058 ^@ NM_001369.2(DNAH5):c.7465C>T (p.Leu2489=) http://identifiers.org/clinvar/258008 ^@ NM_001369.2(DNAH5):c.2053-23A>C http://identifiers.org/clinvar/255869 ^@ NM_000337.5(SGCD):c.3+11C>T http://identifiers.org/clinvar/258158 ^@ NM_001491.2(GCNT2):c.741G>A (p.Ala247=) http://identifiers.org/clinvar/256069 ^@ NM_000426.3(LAMA2):c.411G>A (p.Ala137=) http://identifiers.org/clinvar/262158 ^@ NM_033071.3(SYNE1):c.12139-39A>G http://identifiers.org/clinvar/262308 ^@ NM_080680.2(COL11A2):c.2484+13delG http://identifiers.org/clinvar/258358 ^@ NM_001851.4(COL9A1):c.2299A>G (p.Met767Val) http://identifiers.org/clinvar/257908 ^@ NM_001277115.1(DNAH11):c.5427C>T (p.Ala1809=) http://identifiers.org/clinvar/257858 ^@ NM_001277115.1(DNAH11):c.11840-20C>T http://identifiers.org/clinvar/256769 ^@ NM_000722.3(CACNA2D1):c.963G>A (p.Ala321=) http://identifiers.org/clinvar/256219 ^@ NM_000466.2(PEX1):c.2416+20C>T http://identifiers.org/clinvar/256169 ^@ NM_000445.4(PLEC):c.12441G>A (p.Pro4147=) http://identifiers.org/clinvar/262758 ^@ NM_153704.5(TMEM67):c.978+13A>G http://identifiers.org/clinvar/262658 ^@ NM_152564.4(VPS13B):c.1564-16A>T http://identifiers.org/clinvar/256319 ^@ NM_000507.3(FBP1):c.334-17C>A http://identifiers.org/clinvar/255669 ^@ NM_000264.3(PTCH1):c.1504-8T>C http://identifiers.org/clinvar/262208 ^@ NM_033087.3(ALG2):c.129C>G (p.Arg43=) http://identifiers.org/clinvar/256269 ^@ NM_000494.3(COL17A1):c.2595C>T (p.Arg865=) http://identifiers.org/clinvar/255319 ^@ NM_000141.4(FGFR2):c.696A>G (p.Val232=) http://identifiers.org/clinvar/258808 ^@ NM_002778.3(PSAP):c.1193-26G>A http://identifiers.org/clinvar/258558 ^@ NM_002180.2(IGHMBP2):c.1538-20C>T http://identifiers.org/clinvar/258658 ^@ NM_002465.3(MYBPC1):c.1634-18delC http://identifiers.org/clinvar/262808 ^@ NM_172364.4(CACNA2D4):c.1068+13G>A http://identifiers.org/clinvar/258208 ^@ NM_001844.4(COL2A1):c.1266+7G>A http://identifiers.org/clinvar/258858 ^@ NM_002905.3(RDH5):c.600C>G (p.Val200=) http://identifiers.org/clinvar/262258 ^@ NM_052867.2(NALCN):c.2637-10T>G http://identifiers.org/clinvar/258258 ^@ NM_001845.5(COL4A1):c.468+15_468+19delATTTT http://identifiers.org/clinvar/255219 ^@ NM_000131.4(F7):c.64+9G>A http://identifiers.org/clinvar/258708 ^@ NM_002471.3(MYH6):c.201+16C>T http://identifiers.org/clinvar/261958 ^@ NM_031427.3(DNAL1):c.348A>G (p.Lys116=) http://identifiers.org/clinvar/255369 ^@ NM_000153.3(GALC):c.1161+38T>C http://identifiers.org/clinvar/256819 ^@ NM_000814.5(GABRB3):c.240+13C>T http://identifiers.org/clinvar/255719 ^@ NM_000275.2(OCA2):c.1320G>C (p.Leu440Phe) http://identifiers.org/clinvar/335655 ^@ NM_001029883.2(C2orf71):c.1739C>T (p.Thr580Met) http://identifiers.org/clinvar/335155 ^@ NM_004544.3(NDUFA10):c.*3205G>A http://identifiers.org/clinvar/335355 ^@ NM_001035256.2(POMC):c.474G>T (p.Lys158Asn) http://identifiers.org/clinvar/335455 ^@ NM_194248.2(OTOF):c.1045+4A>G http://identifiers.org/clinvar/335705 ^@ NM_004304.4(ALK):c.2109C>T (p.Asn703=) http://identifiers.org/clinvar/335755 ^@ NM_000379.3(XDH):c.3937A>G (p.Lys1313Glu) http://identifiers.org/clinvar/337051 ^@ NM_080916.2(DGUOK):c.707+3_707+6dupAAGT http://identifiers.org/clinvar/337201 ^@ NM_000821.6(GGCX):c.*3431C>T http://identifiers.org/clinvar/342331 ^@ NM_016247.3(IMPG2):c.*134C>T http://identifiers.org/clinvar/334705 ^@ NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) http://identifiers.org/clinvar/334805 ^@ NM_000091.4(COL4A3):c.*1070delA http://identifiers.org/clinvar/342631 ^@ NM_020754.3(ARHGAP31):c.436T>C (p.Leu146=) http://identifiers.org/clinvar/334605 ^@ NM_003590.4(CUL3):c.*2093A>G http://identifiers.org/clinvar/337251 ^@ NM_000821.6(GGCX):c.*218G>A http://identifiers.org/clinvar/342681 ^@ NM_020754.3(ARHGAP31):c.*267C>T http://identifiers.org/clinvar/334955 ^@ NM_152383.4(DIS3L2):c.*208G>A http://identifiers.org/clinvar/342781 ^@ NM_001023570.3(IQCB1):c.488-13dupT http://identifiers.org/clinvar/342831 ^@ NM_053025.3(MYLK):c.*1302T>C http://identifiers.org/clinvar/342881 ^@ NM_053025.3(MYLK):c.3610C>T (p.Arg1204Trp) http://identifiers.org/clinvar/335105 ^@ NM_004369.3(COL6A3):c.7691A>T (p.His2564Leu) http://identifiers.org/clinvar/334755 ^@ NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) http://identifiers.org/clinvar/337651 ^@ NM_001298.2(CNGA3):c.-43G>A http://identifiers.org/clinvar/343031 ^@ NM_000373.3(UMPS):c.*4485G>T http://identifiers.org/clinvar/343081 ^@ NM_025265.3(TSEN2):c.1104A>G (p.Leu368=) http://identifiers.org/clinvar/335305 ^@ NM_152783.4(D2HGDH):c.-141C>T http://identifiers.org/clinvar/335405 ^@ NM_000183.2(HADHB):c.560A>G (p.Asn187Ser) http://identifiers.org/clinvar/335055 ^@ NM_002242.4(KCNJ13):c.548G>A (p.Gly183Asp) http://identifiers.org/clinvar/342481 ^@ NM_000551.3(VHL):c.*2660T>A http://identifiers.org/clinvar/335505 ^@ NM_000221.2(KHK):c.*79G>A http://identifiers.org/clinvar/335555 ^@ NM_144631.5(ZNF513):c.749G>A (p.Arg250Gln) http://identifiers.org/clinvar/335605 ^@ NM_001029883.2(C2orf71):c.*1371G>A http://identifiers.org/clinvar/343431 ^@ NM_001063.3(TF):c.417G>A (p.Thr139=) http://identifiers.org/clinvar/343481 ^@ NM_000532.4(PCCB):c.*91C>A http://identifiers.org/clinvar/342731 ^@ NM_020754.3(ARHGAP31):c.*3021G>A http://identifiers.org/clinvar/335805 ^@ NM_000348.3(SRD5A2):c.*1152delT http://identifiers.org/clinvar/335905 ^@ NM_001011.3(RPS7):c.508-12C>A http://identifiers.org/clinvar/343231 ^@ NM_052985.3(IFT122):c.214T>G (p.Ser72Ala) http://identifiers.org/clinvar/350510 ^@ NM_005460.3(SNCAIP):c.*314T>C http://identifiers.org/clinvar/350610 ^@ NM_005573.3(LMNB1):c.-159C>G http://identifiers.org/clinvar/350760 ^@ NM_001999.3(FBN2):c.8365-13G>A http://identifiers.org/clinvar/351010 ^@ NM_001369.2(DNAH5):c.12842T>C (p.Phe4281Ser) http://identifiers.org/clinvar/351060 ^@ NM_001369.2(DNAH5):c.7684A>T (p.Ile2562Phe) http://identifiers.org/clinvar/351260 ^@ NM_005219.4(DIAPH1):c.*1557C>T http://identifiers.org/clinvar/358436 ^@ NM_006348.3(COG5):c.*1484T>C http://identifiers.org/clinvar/351110 ^@ NM_199189.2(MATR3):c.-643A>G http://identifiers.org/clinvar/351160 ^@ NM_199189.2(MATR3):c.*747G>C http://identifiers.org/clinvar/358586 ^@ NM_000108.4(DLD):c.*1092C>T http://identifiers.org/clinvar/351310 ^@ NM_005219.4(DIAPH1):c.-49A>C http://identifiers.org/clinvar/351460 ^@ NM_054027.4(ANKH):c.*1887dupA http://identifiers.org/clinvar/351510 ^@ NM_003122.4(SPINK1):c.*32C>T http://identifiers.org/clinvar/358836 ^@ NM_000230.2(LEP):c.*1549T>C http://identifiers.org/clinvar/358886 ^@ NM_018718.2(CEP41):c.*4973C>T http://identifiers.org/clinvar/359036 ^@ NM_020632.2(ATP6V0A4):c.-137C>T http://identifiers.org/clinvar/359236 ^@ NM_014141.5(CNTNAP2):c.*2699C>T http://identifiers.org/clinvar/359386 ^@ NM_022458.3(LMBR1):c.*2089G>A http://identifiers.org/clinvar/359536 ^@ NM_001101426.3(ISPD):c.*2235A>C http://identifiers.org/clinvar/352647 ^@ NM_000816.3(GABRG2):c.*194G>A http://identifiers.org/clinvar/352497 ^@ NM_005546.3(ITK):c.*1755T>C http://identifiers.org/clinvar/352697 ^@ NM_001034850.2(RETREG1):c.22G>A (p.Glu8Lys) http://identifiers.org/clinvar/352897 ^@ NM_022455.4(NSD1):c.*407G>A http://identifiers.org/clinvar/352947 ^@ NM_022455.4(NSD1):c.*4601C>T http://identifiers.org/clinvar/360625 ^@ NM_153033.4(KCTD7):c.*3033T>C http://identifiers.org/clinvar/352997 ^@ NM_000505.3(F12):c.928A>T (p.Arg310Trp) http://identifiers.org/clinvar/353197 ^@ NM_004168.3(SDHA):c.-115T>C http://identifiers.org/clinvar/357397 ^@ NM_138694.3(PKHD1):c.*636C>A http://identifiers.org/clinvar/360925 ^@ NM_000466.2(PEX1):c.2072C>T (p.Ala691Val) http://identifiers.org/clinvar/361175 ^@ NM_015713.4(RRM2B):c.*11G>A http://identifiers.org/clinvar/361585 ^@ NM_014112.4(TRPS1):c.*1843T>A http://identifiers.org/clinvar/353397 ^@ NM_133433.3(NIPBL):c.*551G>C http://identifiers.org/clinvar/353447 ^@ NM_023073.3(C5orf42):c.5152A>G (p.Ile1718Val) http://identifiers.org/clinvar/353547 ^@ NM_002310.5(LIFR):c.*4618T>C http://identifiers.org/clinvar/363774 ^@ NM_000318.2(PEX2):c.*2466A>G http://identifiers.org/clinvar/299827 ^@ NM_021252.4(RAB18):c.*325C>G http://identifiers.org/clinvar/363824 ^@ NM_000318.2(PEX2):c.-278C>G http://identifiers.org/clinvar/363974 ^@ NM_018444.3(PDP1):c.*1844A>C http://identifiers.org/clinvar/363874 ^@ NM_019098.4(CNGB3):c.1160A>G (p.Tyr387Cys) http://identifiers.org/clinvar/306421 ^@ NM_001814.5(CTSC):c.954A>G (p.Glu318=) http://identifiers.org/clinvar/363924 ^@ NM_153704.5(TMEM67):c.2556+4T>G http://identifiers.org/clinvar/364024 ^@ NM_001001557.3(GDF6):c.*322_*323insTT http://identifiers.org/clinvar/364274 ^@ NM_001701.3(BAAT):c.*160T>C http://identifiers.org/clinvar/364224 ^@ NM_014425.4(INVS):c.889G>A (p.Ala297Thr) http://identifiers.org/clinvar/300677 ^@ NM_004273.4(CHST3):c.*4609G>A http://identifiers.org/clinvar/300727 ^@ NM_016065.3(MRPS16):c.-95G>A http://identifiers.org/clinvar/309070 ^@ NM_003482.3(KMT2D):c.3408G>A (p.Glu1136=) http://identifiers.org/clinvar/365813 ^@ NM_014564.4(LHX3):c.*32G>A http://identifiers.org/clinvar/309170 ^@ NM_000217.2(KCNA1):c.*1469G>A http://identifiers.org/clinvar/301816 ^@ NM_138413.3(HOGA1):c.*445A>G http://identifiers.org/clinvar/365863 ^@ NM_052813.4(CARD9):c.-119C>G http://identifiers.org/clinvar/309270 ^@ NM_000486.5(AQP2):c.*3002G>C http://identifiers.org/clinvar/309370 ^@ NM_014191.3(SCN8A):c.*336T>A http://identifiers.org/clinvar/366064 ^@ NM_144966.5(FREM1):c.*2125delA http://identifiers.org/clinvar/366164 ^@ NM_144966.5(FREM1):c.884C>T (p.Pro295Leu) http://identifiers.org/clinvar/302066 ^@ NM_001080463.1(DYNC2H1):c.8102C>T (p.Ala2701Val) http://identifiers.org/clinvar/366264 ^@ NM_002451.3(MTAP):c.*707A>G http://identifiers.org/clinvar/365914 ^@ NM_006412.3(AGPAT2):c.*79C>G http://identifiers.org/clinvar/366014 ^@ NM_024757.4(EHMT1):c.2167G>A (p.Ala723Thr) http://identifiers.org/clinvar/302366 ^@ NM_002906.3(RDX):c.-309T>G http://identifiers.org/clinvar/366214 ^@ NM_003070.4(SMARCA2):c.2907C>T (p.Asp969=) http://identifiers.org/clinvar/366664 ^@ NM_001497.3(B4GALT1):c.328C>A (p.Pro110Thr) http://identifiers.org/clinvar/366314 ^@ NM_002451.3(MTAP):c.*3829T>C http://identifiers.org/clinvar/302666 ^@ NM_000733.3(CD3E):c.*55C>A http://identifiers.org/clinvar/366714 ^@ NM_007126.3(VCP):c.*153G>T http://identifiers.org/clinvar/366814 ^@ NM_005476.5(GNE):c.*1635G>A http://identifiers.org/clinvar/366414 ^@ NM_000459.4(TEK):c.902-10C>T http://identifiers.org/clinvar/366864 ^@ NM_203447.3(DOCK8):c.2275G>A (p.Val759Met) http://identifiers.org/clinvar/340441 ^@ NM_006657.2(FTCD):c.301G>A (p.Val101Met) http://identifiers.org/clinvar/322138 ^@ NM_016239.3(MYO15A):c.4038+58_4038+61dupGTGT http://identifiers.org/clinvar/322238 ^@ NM_000382.2(ALDH3A2):c.*1788C>G http://identifiers.org/clinvar/312953 ^@ NM_001099274.1(TINF2):c.507+5C>T http://identifiers.org/clinvar/314703 ^@ NM_000369.2(TSHR):c.*172C>A http://identifiers.org/clinvar/322388 ^@ NM_080669.5(SLC46A1):c.*1220A>G http://identifiers.org/clinvar/313053 ^@ NM_025152.2(NUBPL):c.*1122dupC http://identifiers.org/clinvar/322488 ^@ NM_178170.2(NEK8):c.*156G>A http://identifiers.org/clinvar/313203 ^@ NM_020937.3(FANCM):c.2160+10A>G http://identifiers.org/clinvar/313803 ^@ NM_002382.4(MAX):c.*534G>A http://identifiers.org/clinvar/323527 ^@ NM_002087.3(GRN):c.-179G>C http://identifiers.org/clinvar/315842 ^@ NM_144508.4(KNL1):c.144T>C (p.Asn48=) http://identifiers.org/clinvar/313953 ^@ NM_000021.3(PSEN1):c.*211G>A http://identifiers.org/clinvar/314153 ^@ NM_031427.3(DNAL1):c.*7676G>A http://identifiers.org/clinvar/316042 ^@ NM_201631.3(TGM5):c.1510G>A (p.Val504Met) http://identifiers.org/clinvar/314203 ^@ NM_182894.2(VSX2):c.939T>A (p.Ala313=) http://identifiers.org/clinvar/316142 ^@ NM_014080.4(DUOX2):c.4036A>G (p.Ile1346Val) http://identifiers.org/clinvar/316242 ^@ NM_012388.3(BLOC1S6):c.*2209T>C http://identifiers.org/clinvar/324027 ^@ NM_005220.2(DLX3):c.-37C>G http://identifiers.org/clinvar/324077 ^@ NM_000088.3(COL1A1):c.*631G>A http://identifiers.org/clinvar/324184 ^@ NM_015294.4(TRIM37):c.*381T>C http://identifiers.org/clinvar/316442 ^@ NM_031226.2(CYP19A1):c.*2467G>A http://identifiers.org/clinvar/324234 ^@ NM_000717.4(CA4):c.575A>G (p.Lys192Arg) http://identifiers.org/clinvar/316542 ^@ NM_182758.3(WDR72):c.*1936A>G http://identifiers.org/clinvar/316642 ^@ NM_004580.4(RAB27A):c.*425G>A http://identifiers.org/clinvar/324386 ^@ NM_000789.3(ACE):c.1775A>G (p.Asp592Gly) http://identifiers.org/clinvar/324436 ^@ NM_000789.3(ACE):c.*755T>G http://identifiers.org/clinvar/316742 ^@ NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) http://identifiers.org/clinvar/324536 ^@ NM_000334.4(SCN4A):c.1845+7A>C http://identifiers.org/clinvar/316842 ^@ NM_002755.3(MAP2K1):c.*425G>T http://identifiers.org/clinvar/316892 ^@ NM_005902.3(SMAD3):c.*1105G>A http://identifiers.org/clinvar/324686 ^@ NM_031220.3(PITPNM3):c.*2981G>A http://identifiers.org/clinvar/316942 ^@ NM_005902.3(SMAD3):c.*2547C>T http://identifiers.org/clinvar/324786 ^@ NM_002734.4(PRKAR1A):c.*156C>T http://identifiers.org/clinvar/325036 ^@ NM_173477.4(USH1G):c.*1180_*1181dupTG http://identifiers.org/clinvar/325136 ^@ NM_001005731.2(ITGB4):c.1210G>A (p.Glu404Lys) http://identifiers.org/clinvar/315692 ^@ NM_005159.4(ACTC1):c.*422T>A http://identifiers.org/clinvar/315742 ^@ NM_152594.2(SPRED1):c.*427A>T http://identifiers.org/clinvar/315792 ^@ NM_152594.2(SPRED1):c.*5346A>C http://identifiers.org/clinvar/315892 ^@ NM_000070.2(CAPN3):c.590G>A (p.Arg197His) http://identifiers.org/clinvar/317782 ^@ NM_004862.3(LITAF):c.274A>G (p.Ile92Val) http://identifiers.org/clinvar/315992 ^@ NM_173500.3(TTBK2):c.1555G>C (p.Ala519Pro) http://identifiers.org/clinvar/317932 ^@ NM_001287.5(CLCN7):c.*496T>C http://identifiers.org/clinvar/316292 ^@ NM_000338.2(SLC12A1):c.*590T>C http://identifiers.org/clinvar/372280 ^@ NM_024854.3(PYROXD1):c.464A>G (p.Asn155Ser) http://identifiers.org/clinvar/373003 ^@ NM_002524.4(NRAS):c.183A>T (p.Gln61His) http://identifiers.org/clinvar/373203 ^@ NM_004284.5(CHD1L):c.1832G>A (p.Arg611Gln) http://identifiers.org/clinvar/372543 ^@ NM_206933.2(USH2A):c.486-14G>A http://identifiers.org/clinvar/373153 ^@ NM_005529.6(HSPG2):c.1078C>G (p.Pro360Ala) http://identifiers.org/clinvar/373403 ^@ NM_005378.5(MYCN):c.1289T>G (p.Val430Gly) http://identifiers.org/clinvar/372747 ^@ NM_001875.4(CPS1):c.2339G>A (p.Arg780His) http://identifiers.org/clinvar/372697 ^@ NM_005633.3(SOS1):c.3290G>A (p.Ser1097Asn) http://identifiers.org/clinvar/372383 ^@ NM_001099287.1(NIPAL4):c.688G>A (p.Gly230Arg) http://identifiers.org/clinvar/372333 ^@ NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu) http://identifiers.org/clinvar/373303 ^@ NM_017934.6(PHIP):c.545A>G (p.His182Arg) http://identifiers.org/clinvar/373053 ^@ NM_022455.4(NSD1):c.6463+5G>C http://identifiers.org/clinvar/373353 ^@ NM_002890.2(RASA1):c.539+5G>A http://identifiers.org/clinvar/372953 ^@ NM_006269.1(RP1):c.5639C>G (p.Pro1880Arg) http://identifiers.org/clinvar/372644 ^@ NM_004415.3(DSP):c.2437-1G>C http://identifiers.org/clinvar/372490 ^@ NM_005045.3(RELN):c.7606G>A (p.Gly2536Arg) http://identifiers.org/clinvar/372901 ^@ NM_023110.2(FGFR1):c.2062G>C (p.Val688Leu) http://identifiers.org/clinvar/373103 ^@ NM_023110.2(FGFR1):c.1764_1774delCCACAACCCAG (p.Ser588Argfs) http://identifiers.org/clinvar/372797 ^@ NM_001385.2(DPYS):c.1137C>A (p.Ser379Arg) http://identifiers.org/clinvar/373503 ^@ NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) http://identifiers.org/clinvar/373453 ^@ NM_002332.2(LRP1):c.11020G>A (p.Asp3674Asn) http://identifiers.org/clinvar/373253 ^@ NM_000257.3(MYH7):c.1792A>G (p.Lys598Glu) http://identifiers.org/clinvar/373553 ^@ NM_004667.5(HERC2):c.6488T>C (p.Ile2163Thr) http://identifiers.org/clinvar/372850 ^@ NM_006796.2(AFG3L2):c.964G>A (p.Glu322Lys) http://identifiers.org/clinvar/372434 ^@ NM_000435.2(NOTCH3):c.6633C>G (p.Tyr2211Ter) http://identifiers.org/clinvar/372593 ^@ NM_000425.4(L1CAM):c.1939+5G>C http://identifiers.org/clinvar/374384 ^@ NM_000346.3(SOX9):c.1427T>C (p.Met476Thr) http://identifiers.org/clinvar/374319 ^@ NM_004006.2(DMD):c.5652delG (p.Arg1884Serfs) http://identifiers.org/clinvar/374437 ^@ NM_001127221.1(CACNA1A):c.2585_2602del18 (p.Gln862_Asp867del) http://identifiers.org/clinvar/374487 ^@ NM_172107.3(KCNQ2):c.1154T>A (p.Ile385Asn) http://identifiers.org/clinvar/374537 ^@ NM_004612.3(TGFBR1):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/374587 ^@ NM_003907.2(EIF2B5):c.1077T>A (p.Asn359Lys) http://identifiers.org/clinvar/374637 ^@ NM_000435.2(NOTCH3):c.1819C>T (p.Arg607Cys) http://identifiers.org/clinvar/374797 ^@ NM_001005463.2(EBF3):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/374847 ^@ NM_004644.4(AP3B2):c.1110+1G>C http://identifiers.org/clinvar/374902 ^@ NM_022068.3(PIEZO2):c.5621delT (p.Leu1874Argfs) http://identifiers.org/clinvar/374964 ^@ NM_000257.3(MYH7):c.3865C>T (p.Arg1289Trp) http://identifiers.org/clinvar/375234 ^@ NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del http://identifiers.org/clinvar/375295 ^@ NM_005450.4(NOG):c.611G>A (p.Arg204Gln) http://identifiers.org/clinvar/375350 ^@ NM_000520.5(HEXA):c.426delT (p.Phe142Leufs) http://identifiers.org/clinvar/375401 ^@ NM_015160.2(PMPCA):c.554G>A (p.Arg185Gln) http://identifiers.org/clinvar/375461 ^@ NM_030632.2(ASXL3):c.1961dupC (p.Ser655Terfs) http://identifiers.org/clinvar/375524 ^@ NM_003159.2(CDKL5):c.1449_1452dupGACC (p.Lys485Aspfs) http://identifiers.org/clinvar/375641 ^@ NM_001198903.1(YY1AP1):c.1903_1906delTCTG (p.Glu636Profs) http://identifiers.org/clinvar/375786 ^@ NM_000527.4(LDLR):c.610T>G (p.Cys204Gly) http://identifiers.org/clinvar/375836 ^@ NM_000527.4(LDLR):c.2287dupG (p.Glu763Glyfs) http://identifiers.org/clinvar/375889 ^@ NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) http://identifiers.org/clinvar/378098 ^@ NM_133259.3(LRPPRC):c.2896+16A>G http://identifiers.org/clinvar/387443 ^@ NM_000179.2(MSH6):c.628-18T>C http://identifiers.org/clinvar/378298 ^@ NM_001135659.2(NRXN1):c.3485-109897G>T http://identifiers.org/clinvar/392071 ^@ NM_015120.4(ALMS1):c.8676C>A (p.Ser2892Arg) http://identifiers.org/clinvar/380146 ^@ NM_182916.2(TRNT1):c.1056+11A>G http://identifiers.org/clinvar/391421 ^@ NM_001164342.2(ZBTB20):c.1766C>A (p.Ala589Asp) http://identifiers.org/clinvar/378046 ^@ NM_004321.7(KIF1A):c.2555+996G>A http://identifiers.org/clinvar/378248 ^@ NM_144736.4(NDUFAF7):c.937-19T>G http://identifiers.org/clinvar/386543 ^@ NM_000249.3(MLH1):c.381-14T>C http://identifiers.org/clinvar/391871 ^@ NM_006514.3(SCN10A):c.2809C>T (p.Pro937Ser) http://identifiers.org/clinvar/380798 ^@ NM_024582.4(FAT4):c.9643C>T (p.His3215Tyr) http://identifiers.org/clinvar/387943 ^@ NM_000038.5(APC):c.7533C>T (p.Leu2511=) http://identifiers.org/clinvar/392571 ^@ NM_181678.2(PPP2R2B):c.1157G>C (p.Gly386Ala) http://identifiers.org/clinvar/389582 ^@ NM_005911.5(MAT2A):c.951+7A>G http://identifiers.org/clinvar/378503 ^@ NM_005506.3(SCARB2):c.402A>G (p.Arg134=) http://identifiers.org/clinvar/380346 ^@ NM_022455.4(NSD1):c.6991G>A (p.Asp2331Asn) http://identifiers.org/clinvar/391521 ^@ NM_053025.3(MYLK):c.-175T>C http://identifiers.org/clinvar/392221 ^@ NM_001999.3(FBN2):c.2384G>C (p.Cys795Ser) http://identifiers.org/clinvar/383642 ^@ NM_021911.2(GABRB2):c.1191G>A (p.Thr397=) http://identifiers.org/clinvar/386843 ^@ NM_198056.2(SCN5A):c.5478T>A (p.Arg1826=) http://identifiers.org/clinvar/392371 ^@ NM_198056.2(SCN5A):c.1335C>A (p.His445Gln) http://identifiers.org/clinvar/392271 ^@ NM_022455.4(NSD1):c.662C>T (p.Ala221Val) http://identifiers.org/clinvar/380196 ^@ NM_032340.3(UQCC2):c.353A>G (p.Lys118Arg) http://identifiers.org/clinvar/390632 ^@ NM_004999.3(MYO6):c.817-1G>A http://identifiers.org/clinvar/387093 ^@ NM_000426.3(LAMA2):c.2187G>C (p.Gly729=) http://identifiers.org/clinvar/389982 ^@ NM_001148.4(ANK2):c.694-1G>A http://identifiers.org/clinvar/387393 ^@ NM_001148.4(ANK2):c.2701T>G (p.Ser901Ala) http://identifiers.org/clinvar/386893 ^@ NM_033071.3(SYNE1):c.1653+6T>C http://identifiers.org/clinvar/392971 ^@ NM_014141.5(CNTNAP2):c.2466C>A (p.Asp822Glu) http://identifiers.org/clinvar/390232 ^@ NM_024592.4(SRD5A3):c.444C>T (p.Leu148=) http://identifiers.org/clinvar/387743 ^@ NM_001101.3(ACTB):c.762G>C (p.Arg254=) http://identifiers.org/clinvar/390482 ^@ NM_004387.3(NKX2-5):c.701C>A (p.Ser234Ter) http://identifiers.org/clinvar/390182 ^@ NM_022455.4(NSD1):c.6429C>T (p.His2143=) http://identifiers.org/clinvar/380096 ^@ NM_001085411.2(NADK2):c.210G>T (p.Arg70=) http://identifiers.org/clinvar/387593 ^@ NM_000501.3(ELN):c.1316-12G>A http://identifiers.org/clinvar/389682 ^@ NM_032119.3(ADGRV1):c.16436A>G (p.Asn5479Ser) http://identifiers.org/clinvar/392021 ^@ NM_005670.3(EPM2A):c.-27C>T http://identifiers.org/clinvar/389782 ^@ NM_001130438.2(SPTAN1):c.6762+11G>A http://identifiers.org/clinvar/392321 ^@ NM_006059.3(LAMC3):c.3499A>G (p.Arg1167Gly) http://identifiers.org/clinvar/133046 ^@ NM_000540.2(RYR1):c.131G>A (p.Arg44His) http://identifiers.org/clinvar/133096 ^@ NM_000540.2(RYR1):c.14879T>A (p.Phe4960Tyr) http://identifiers.org/clinvar/133729 ^@ NM_000059.3(BRCA2):c.5210A>T (p.Asp1737Val) http://identifiers.org/clinvar/133782 ^@ NM_001211.5(BUB1B):c.1170G>C (p.Glu390Asp) http://identifiers.org/clinvar/133832 ^@ NM_001783.3(CD79A):c.258C>A (p.Asp86Glu) http://identifiers.org/clinvar/133882 ^@ NM_000077.4(CDKN2A):c.273G>A (p.Leu91=) http://identifiers.org/clinvar/133932 ^@ NM_004380.2(CREBBP):c.293G>T (p.Gly98Val) http://identifiers.org/clinvar/133982 ^@ NM_175629.2(DNMT3A):c.89A>C (p.Glu30Ala) http://identifiers.org/clinvar/134032 ^@ NM_005228.4(EGFR):c.493C>T (p.Arg165Trp) http://identifiers.org/clinvar/134084 ^@ NM_001005862.2(ERBB2):c.3557C>A (p.Ala1186Asp) http://identifiers.org/clinvar/134134 ^@ NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) http://identifiers.org/clinvar/134184 ^@ NM_000123.3(ERCC5):c.848C>T (p.Ser283Phe) http://identifiers.org/clinvar/134234 ^@ NM_017709.3(FAM46C):c.889G>A (p.Ala297Thr) http://identifiers.org/clinvar/134285 ^@ NM_000135.2(FANCA):c.4316G>C (p.Arg1439Thr) http://identifiers.org/clinvar/134335 ^@ NM_021922.2(FANCE):c.923delC (p.Pro310Glnfs) http://identifiers.org/clinvar/134386 ^@ NM_000141.4(FGFR2):c.17G>C (p.Arg6Pro) http://identifiers.org/clinvar/134436 ^@ NM_004119.2(FLT3):c.46G>C (p.Val16Leu) http://identifiers.org/clinvar/134486 ^@ NM_001077490.2(GNAS):c.124T>G (p.Ser42Ala) http://identifiers.org/clinvar/134536 ^@ NM_002185.3(IL7R):c.1241C>T (p.Thr414Met) http://identifiers.org/clinvar/134586 ^@ NM_000215.3(JAK3):c.1187C>T (p.Pro396Leu) http://identifiers.org/clinvar/134637 ^@ NM_005120.2(MED12):c.5593A>G (p.Met1865Val) http://identifiers.org/clinvar/134688 ^@ NM_003482.3(KMT2D):c.6740C>G (p.Pro2247Arg) http://identifiers.org/clinvar/134739 ^@ NM_170606.2(KMT2C):c.1577G>A (p.Arg526His) http://identifiers.org/clinvar/134789 ^@ NM_170606.2(KMT2C):c.10763C>T (p.Ser3588Leu) http://identifiers.org/clinvar/134840 ^@ NM_000251.2(MSH2):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/134893 ^@ NM_000268.3(NF2):c.1163C>T (p.Ala388Val) http://identifiers.org/clinvar/134943 ^@ NM_017617.4(NOTCH1):c.361A>G (p.Thr121Ala) http://identifiers.org/clinvar/134993 ^@ NM_024675.3(PALB2):c.1882_1890delAAGTCCTGC (p.Lys628_Cys630del) http://identifiers.org/clinvar/135043 ^@ NM_000534.4(PMS1):c.329C>G (p.Thr110Arg) http://identifiers.org/clinvar/135226 ^@ NM_014159.6(SETD2):c.227G>C (p.Ser76Thr) http://identifiers.org/clinvar/135277 ^@ NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) http://identifiers.org/clinvar/135327 ^@ NM_017628.4(TET2):c.3451G>T (p.Glu1151Ter) http://identifiers.org/clinvar/135377 ^@ NM_000548.4(TSC2):c.3846_3855delCTGCCAAGGAinsG (p.Ser1282_Gly1285delinsArg) http://identifiers.org/clinvar/135428 ^@ NM_000553.4(WRN):c.2983G>A (p.Ala995Thr) http://identifiers.org/clinvar/135478 ^@ NM_004628.4(XPC):c.755A>G (p.Tyr252Cys) http://identifiers.org/clinvar/135528 ^@ NM_000400.3(ERCC2):c.1119-89G>A http://identifiers.org/clinvar/135592 ^@ NM_002136.3(HNRNPA1):c.787T>C (p.Phe263Leu) http://identifiers.org/clinvar/135654 ^@ NM_000079.3(CHRNA1):c.737C>A (p.Ser246Tyr) http://identifiers.org/clinvar/135714 ^@ NM_000038.5(APC):c.6669A>G (p.Ser2223=) http://identifiers.org/clinvar/135765 ^@ NM_000051.3(ATM):c.6179G>A (p.Arg2060His) http://identifiers.org/clinvar/135823 ^@ NM_000075.3(CDK4):c.192G>A (p.Glu64=) http://identifiers.org/clinvar/135873 ^@ NM_000264.3(PTCH1):c.1593C>T (p.Ile531=) http://identifiers.org/clinvar/135923 ^@ NM_000455.4(STK11):c.552C>T (p.Leu184=) http://identifiers.org/clinvar/135974 ^@ NM_001127500.2(MET):c.65G>T (p.Ser22Ile) http://identifiers.org/clinvar/136025 ^@ NM_002354.2(EPCAM):c.496C>T (p.Leu166Phe) http://identifiers.org/clinvar/136076 ^@ NM_005359.5(SMAD4):c.575C>T (p.Thr192Ile) http://identifiers.org/clinvar/136126 ^@ NM_024675.3(PALB2):c.1188C>T (p.Cys396=) http://identifiers.org/clinvar/185528 ^@ NM_002878.3(RAD51D):c.898delC (p.Arg300Aspfs) http://identifiers.org/clinvar/185278 ^@ NM_002878.3(RAD51D):c.417A>C (p.Gly139=) http://identifiers.org/clinvar/185178 ^@ NM_002878.3(RAD51D):c.394G>A (p.Val132Ile) http://identifiers.org/clinvar/187169 ^@ NM_007294.3(BRCA1):c.4998C>T (p.Tyr1666=) http://identifiers.org/clinvar/185428 ^@ NM_007294.3(BRCA1):c.4664G>A (p.Arg1555Lys) http://identifiers.org/clinvar/187419 ^@ NM_007294.3(BRCA1):c.3270A>G (p.Gln1090=) http://identifiers.org/clinvar/184828 ^@ NM_007294.3(BRCA1):c.3211G>A (p.Glu1071Lys) http://identifiers.org/clinvar/187719 ^@ NM_007294.3(BRCA1):c.3071G>A (p.Ser1024Asn) http://identifiers.org/clinvar/185228 ^@ NM_007294.3(BRCA1):c.2134T>C (p.Cys712Arg) http://identifiers.org/clinvar/185128 ^@ NM_007294.3(BRCA1):c.1254G>A (p.Glu418=) http://identifiers.org/clinvar/185578 ^@ NM_007294.3(BRCA1):c.185C>G (p.Pro62Arg) http://identifiers.org/clinvar/184778 ^@ NM_032043.2(BRIP1):c.2859C>A (p.Thr953=) http://identifiers.org/clinvar/184928 ^@ NM_007194.3(CHEK2):c.549G>C (p.Leu183Phe) http://identifiers.org/clinvar/187519 ^@ NM_007194.3(CHEK2):c.446A>G (p.Glu149Gly) http://identifiers.org/clinvar/187773 ^@ NM_052867.2(NALCN):c.1768C>T (p.Leu590Phe) http://identifiers.org/clinvar/187830 ^@ NC_000019.10(CACNA1A):g.13408530_13493692del85163 http://identifiers.org/clinvar/187902 ^@ NM_005957.4(MTHFR):c.1793T>C (p.Leu598Pro) http://identifiers.org/clinvar/187952 ^@ NM_004409.4(DMPK):c.*224_*226[271] http://identifiers.org/clinvar/188002 ^@ NM_004409.4(DMPK):c.*224_*226[541] http://identifiers.org/clinvar/188052 ^@ NM_004608.3(TBX6):c.844C>T (p.Arg282Ter) http://identifiers.org/clinvar/188205 ^@ NM_000251.2(MSH2):c.782_783insA (p.Met261Ilefs) http://identifiers.org/clinvar/188154 ^@ NM_000535.6(PMS2):c.1819G>A (p.Val607Ile) http://identifiers.org/clinvar/188103 ^@ NM_032043.2(BRIP1):c.3215C>A (p.Thr1072Asn) http://identifiers.org/clinvar/189753 ^@ NM_004992.3(MECP2):c.1160_1200del41insAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp) http://identifiers.org/clinvar/189836 ^@ NM_015929.3(LIPT1):c.292C>G (p.Arg98Gly) http://identifiers.org/clinvar/189887 ^@ NM_001165963.1(SCN1A):c.3828T>A (p.Tyr1276Ter) http://identifiers.org/clinvar/189937 ^@ NM_001165963.1(SCN1A):c.3487delG (p.Val1163Terfs) http://identifiers.org/clinvar/189987 ^@ NM_001165963.1(SCN1A):c.1197_1198delCA (p.Met400Aspfs) http://identifiers.org/clinvar/190103 ^@ NM_001605.2(AARS):c.2251A>G (p.Arg751Gly) http://identifiers.org/clinvar/190172 ^@ NM_000124.3(ERCC6):c.4007delA (p.Asn1336Ilefs) http://identifiers.org/clinvar/190223 ^@ NM_024411.4(PDYN):c.217A>G (p.Thr73Ala) http://identifiers.org/clinvar/190302 ^@ NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) http://identifiers.org/clinvar/190356 ^@ NM_002055.4(GFAP):c.1074C>G (p.Ala358=) http://identifiers.org/clinvar/227248 ^@ NM_000739.2(CHRM2):c.691G>A (p.Val231Ile) http://identifiers.org/clinvar/227498 ^@ NM_007078.2(LDB3):c.668C>T (p.Ser223Leu) http://identifiers.org/clinvar/226896 ^@ NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) http://identifiers.org/clinvar/227298 ^@ NM_019887.5(DIABLO):c.8C>G (p.Ala3Gly) http://identifiers.org/clinvar/226946 ^@ NM_173591.3(OTOGL):c.4172+10G>A http://identifiers.org/clinvar/226796 ^@ NM_003803.3(MYOM1):c.1022G>C (p.Gly341Ala) http://identifiers.org/clinvar/227348 ^@ NM_032975.3(DTNA):c.67+12T>A http://identifiers.org/clinvar/226746 ^@ NM_024729.3(MYH14):c.5406C>T (p.Ser1802=) http://identifiers.org/clinvar/227448 ^@ NM_021991.2(JUP):c.1914C>T (p.Asn638=) http://identifiers.org/clinvar/230080 ^@ NM_000179.2(MSH6):c.*4_*7dupGACT http://identifiers.org/clinvar/234796 ^@ NM_000051.3(ATM):c.-32_-31dupTG http://identifiers.org/clinvar/230780 ^@ NM_003000.2(SDHB):c.765+5G>T http://identifiers.org/clinvar/233520 ^@ NM_000143.3(FH):c.270C>G (p.Thr90=) http://identifiers.org/clinvar/233470 ^@ NM_000465.3(BARD1):c.568G>T (p.Asp190Tyr) http://identifiers.org/clinvar/229930 ^@ NM_000251.2(MSH2):c.40G>A (p.Ala14Thr) http://identifiers.org/clinvar/230330 ^@ NM_000251.2(MSH2):c.228G>C (p.Gln76His) http://identifiers.org/clinvar/230030 ^@ NM_000251.2(MSH2):c.905T>C (p.Leu302Ser) http://identifiers.org/clinvar/231130 ^@ NM_000179.2(MSH6):c.494T>G (p.Phe165Cys) http://identifiers.org/clinvar/233270 ^@ NM_000179.2(MSH6):c.860G>C (p.Ser287Thr) http://identifiers.org/clinvar/230830 ^@ NM_000179.2(MSH6):c.2651C>G (p.Ser884Cys) http://identifiers.org/clinvar/229980 ^@ NM_000179.2(MSH6):c.3337A>G (p.Ile1113Val) http://identifiers.org/clinvar/230130 ^@ NM_000179.2(MSH6):c.3974A>T (p.Lys1325Met) http://identifiers.org/clinvar/233420 ^@ NM_000249.3(MLH1):c.826A>G (p.Ile276Val) http://identifiers.org/clinvar/233120 ^@ NM_000249.3(MLH1):c.1823C>T (p.Ala608Val) http://identifiers.org/clinvar/230980 ^@ NM_000249.3(MLH1):c.1987G>A (p.Glu663Lys) http://identifiers.org/clinvar/232720 ^@ NM_000038.5(APC):c.2322C>A (p.Asp774Glu) http://identifiers.org/clinvar/230380 ^@ NM_000038.5(APC):c.3807A>G (p.Ile1269Met) http://identifiers.org/clinvar/263755 ^@ NM_002230.2(JUP):c.2046T>A (p.Ala682=) http://identifiers.org/clinvar/264255 ^@ NM_024422.4(DSC2):c.2244C>T (p.Asp748=) http://identifiers.org/clinvar/264055 ^@ NM_030777.3(SLC2A10):c.119T>C (p.Phe40Ser) http://identifiers.org/clinvar/264005 ^@ NM_004006.2(DMD):c.5216C>A (p.Ala1739Glu) http://identifiers.org/clinvar/263605 ^@ NM_004006.2(DMD):c.1382A>G (p.Asn461Ser) http://identifiers.org/clinvar/264981 ^@ NM_000059.3(BRCA2):c.8633-257C>A http://identifiers.org/clinvar/265692 ^@ NM_006516.2(SLC2A1):c.1158_1162delCCCAT (p.Ile386Metfs) http://identifiers.org/clinvar/265541 ^@ NM_025074.6(FRAS1):c.3010+1G>A http://identifiers.org/clinvar/265033 ^@ NM_001182.4(ALDH7A1):c.575C>T (p.Thr192Met) http://identifiers.org/clinvar/265441 ^@ NM_006846.3(SPINK5):c.136C>T (p.Gln46Ter) http://identifiers.org/clinvar/265491 ^@ NM_002316.3(LMX1B):c.781C>T (p.Arg261Cys) http://identifiers.org/clinvar/265086 ^@ NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) http://identifiers.org/clinvar/265240 ^@ NM_130799.2(MEN1):c.1198C>T (p.Gln400Ter) http://identifiers.org/clinvar/265642 ^@ NM_001170629.1(CHD8):c.2345delA (p.His782Profs) http://identifiers.org/clinvar/265187 ^@ NM_005682.6(ADGRG1):c.641C>T (p.Ser214Leu) http://identifiers.org/clinvar/265136 ^@ NM_000135.2(FANCA):c.1874G>C (p.Cys625Ser) http://identifiers.org/clinvar/265592 ^@ NM_001396.3(DYRK1A):c.657C>A (p.Tyr219Ter) http://identifiers.org/clinvar/265341 ^@ NM_000533.4(PLP1):c.762+2T>C http://identifiers.org/clinvar/265391 ^@ NM_000276.3(OCRL):c.1576C>T (p.Pro526Ser) http://identifiers.org/clinvar/265291 ^@ NM_007075.3(WDR45):c.46C>T (p.Gln16Ter) http://identifiers.org/clinvar/265781 ^@ NM_001142298.1(SQSTM1):c.59_60delAG (p.Glu20Valfs) http://identifiers.org/clinvar/265931 ^@ NM_174936.3(PCSK9):c.658-36G>C http://identifiers.org/clinvar/265881 ^@ NM_000384.2(APOB):c.1470+15T>C http://identifiers.org/clinvar/265986 ^@ NM_000642.2(AGL):c.772T>C (p.Ser258Pro) http://identifiers.org/clinvar/266037 ^@ NM_000463.2(UGT1A1):c.353dupA (p.Asp119Glyfs) http://identifiers.org/clinvar/266113 ^@ NM_004484.3(GPC3):c.1692delT (p.Leu565Serfs) http://identifiers.org/clinvar/266963 ^@ NM_000059.3(BRCA2):c.6566delA (p.Asn2189Thrfs) http://identifiers.org/clinvar/266513 ^@ NM_007294.3(BRCA1):c.5027T>A (p.Leu1676Ter) http://identifiers.org/clinvar/266463 ^@ NM_007294.3(BRCA1):c.4255G>T (p.Glu1419Ter) http://identifiers.org/clinvar/266413 ^@ NM_007294.3(BRCA1):c.3862G>T (p.Glu1288Ter) http://identifiers.org/clinvar/266363 ^@ NM_007294.3(BRCA1):c.3384_3391delGATTTCAG (p.Ile1129Terfs) http://identifiers.org/clinvar/266313 ^@ NM_007294.3(BRCA1):c.2875delA (p.Arg959Glufs) http://identifiers.org/clinvar/266263 ^@ NM_007294.3(BRCA1):c.2442_2443insT (p.Ile815Tyrfs) http://identifiers.org/clinvar/266213 ^@ NM_007294.3(BRCA1):c.2078_2079insTA (p.Ser694Thrfs) http://identifiers.org/clinvar/266163 ^@ NM_007294.3(BRCA1):c.1379delT (p.Ile460Asnfs) http://identifiers.org/clinvar/268104 ^@ NM_181789.2(GLDN):c.758delC (p.Pro253Leufs) http://identifiers.org/clinvar/268168 ^@ NM_005993.4(TBCD):c.2761G>A (p.Ala921Thr) http://identifiers.org/clinvar/279577 ^@ NM_002615.6(SERPINF1):c.643+8C>T http://identifiers.org/clinvar/290892 ^@ NM_005183.3(CACNA1F):c.3296A>G (p.Tyr1099Cys) http://identifiers.org/clinvar/290942 ^@ NM_005219.4(DIAPH1):c.1853_1854insTCCTCC (p.Pro620_Leu621insProPro) http://identifiers.org/clinvar/290992 ^@ NM_012301.3(MAGI2):c.3707-10C>T http://identifiers.org/clinvar/291042 ^@ NM_014762.3(DHCR24):c.73T>C (p.Phe25Leu) http://identifiers.org/clinvar/291092 ^@ NM_025137.3(SPG11):c.5362G>A (p.Val1788Met) http://identifiers.org/clinvar/291142 ^@ NM_176824.2(BBS7):c.649dupG (p.Ala217Glyfs) http://identifiers.org/clinvar/291193 ^@ NM_000271.4(NPC1):c.3794A>T (p.Glu1265Val) http://identifiers.org/clinvar/291243 ^@ NM_001360.2(DHCR7):c.520T>G (p.Phe174Val) http://identifiers.org/clinvar/291293 ^@ NM_002693.2(POLG):c.1097G>C (p.Gly366Ala) http://identifiers.org/clinvar/291408 ^@ NM_001918.3(DBT):c.*4872A>G http://identifiers.org/clinvar/291458 ^@ NM_015074.3(KIF1B):c.-146C>T http://identifiers.org/clinvar/291508 ^@ NM_001854.3(COL11A1):c.3817-14_3817-13dupTT http://identifiers.org/clinvar/291650 ^@ NM_015074.3(KIF1B):c.*3789C>T http://identifiers.org/clinvar/291800 ^@ NM_006610.3(MASP2):c.507A>G (p.Ala169=) http://identifiers.org/clinvar/291700 ^@ NM_013296.4(GPSM2):c.278G>A (p.Arg93Lys) http://identifiers.org/clinvar/291750 ^@ NM_007375.3(TARDBP):c.*1008T>G http://identifiers.org/clinvar/291900 ^@ NM_013319.2(UBIAD1):c.*1532C>T http://identifiers.org/clinvar/292100 ^@ NM_138959.2(VANGL1):c.*5993C>G http://identifiers.org/clinvar/292300 ^@ NM_006623.3(PHGDH):c.-101G>C http://identifiers.org/clinvar/292000 ^@ NM_138959.2(VANGL1):c.-145G>T http://identifiers.org/clinvar/292350 ^@ NM_000302.3(PLOD1):c.2069G>A (p.Arg690Gln) http://identifiers.org/clinvar/291950 ^@ NM_002524.4(NRAS):c.*2784T>A http://identifiers.org/clinvar/291850 ^@ NM_003051.3(SLC16A1):c.*77C>T http://identifiers.org/clinvar/292150 ^@ NM_005957.4(MTHFR):c.*4798C>T http://identifiers.org/clinvar/292200 ^@ NM_005957.4(MTHFR):c.*2053G>A http://identifiers.org/clinvar/292050 ^@ NM_138959.2(VANGL1):c.*2329C>T http://identifiers.org/clinvar/292250 ^@ NM_000302.3(PLOD1):c.-64C>G http://identifiers.org/clinvar/293239 ^@ NM_000309.3(PPOX):c.-185G>T http://identifiers.org/clinvar/293339 ^@ NM_003001.3(SDHC):c.*1025G>T http://identifiers.org/clinvar/293789 ^@ NM_022089.3(ATP13A2):c.1449C>T (p.Tyr483=) http://identifiers.org/clinvar/294039 ^@ NM_005562.2(LAMC2):c.*1008C>T http://identifiers.org/clinvar/293189 ^@ NM_000702.3(ATP1A2):c.*2259T>A http://identifiers.org/clinvar/294089 ^@ NM_031935.2(HMCN1):c.-156G>A http://identifiers.org/clinvar/293989 ^@ NM_005562.2(LAMC2):c.344G>A (p.Arg115Gln) http://identifiers.org/clinvar/294139 ^@ NM_031935.2(HMCN1):c.4029A>G (p.Glu1343=) http://identifiers.org/clinvar/293289 ^@ NM_004550.4(NDUFS2):c.*114A>G http://identifiers.org/clinvar/294239 ^@ NM_031935.2(HMCN1):c.12003G>T (p.Leu4001=) http://identifiers.org/clinvar/293389 ^@ NM_004431.4(EPHA2):c.*790C>T http://identifiers.org/clinvar/293639 ^@ NM_000130.4(F5):c.524A>G (p.His175Arg) http://identifiers.org/clinvar/293689 ^@ NM_006894.5(FMO3):c.430A>G (p.Met144Val) http://identifiers.org/clinvar/293739 ^@ NM_000639.2(FASLG):c.749A>T (p.Asn250Ile) http://identifiers.org/clinvar/293839 ^@ NM_000488.3(SERPINC1):c.870C>T (p.Phe290=) http://identifiers.org/clinvar/293939 ^@ NM_002065.6(GLUL):c.*129G>T http://identifiers.org/clinvar/293889 ^@ NM_002065.6(GLUL):c.*2365G>A http://identifiers.org/clinvar/343331 ^@ NM_014382.3(ATP2C1):c.2057+7T>A http://identifiers.org/clinvar/335855 ^@ NM_014946.3(SPAST):c.*1156T>C http://identifiers.org/clinvar/337151 ^@ NM_003849.3(SUCLG1):c.*38C>T http://identifiers.org/clinvar/337551 ^@ NM_014014.4(SNRNP200):c.2665A>G (p.Ile889Val) http://identifiers.org/clinvar/337601 ^@ NM_020184.3(CNNM4):c.*560T>C http://identifiers.org/clinvar/337501 ^@ NM_017849.3(TMEM127):c.654G>A (p.Glu218=) http://identifiers.org/clinvar/346530 ^@ NM_000248.3(MITF):c.*2029A>T http://identifiers.org/clinvar/342381 ^@ NM_033084.4(FANCD2):c.*37G>A http://identifiers.org/clinvar/342431 ^@ NM_000551.3(VHL):c.*1328C>A http://identifiers.org/clinvar/342531 ^@ NM_198196.2(CD96):c.902T>C (p.Ile301Thr) http://identifiers.org/clinvar/342581 ^@ NM_198196.2(CD96):c.*1873G>A http://identifiers.org/clinvar/342931 ^@ NM_000373.3(UMPS):c.953T>C (p.Ile318Thr) http://identifiers.org/clinvar/342981 ^@ NM_000373.3(UMPS):c.*2708_*2713dupTGTGTG http://identifiers.org/clinvar/343181 ^@ NM_004637.5(RAB7A):c.*1029A>G http://identifiers.org/clinvar/347719 ^@ NM_000901.4(NR3C2):c.2578G>A (p.Val860Ile) http://identifiers.org/clinvar/343131 ^@ NM_032638.4(GATA2):c.*94C>T http://identifiers.org/clinvar/346380 ^@ NM_001457.3(FLNB):c.*675G>A http://identifiers.org/clinvar/343281 ^@ NM_000539.3(RHO):c.696+12G>A http://identifiers.org/clinvar/346430 ^@ NM_198859.3(PRICKLE2):c.*3333T>C http://identifiers.org/clinvar/346480 ^@ NM_198859.3(PRICKLE2):c.-68G>A http://identifiers.org/clinvar/343381 ^@ NM_153240.4(NPHP3):c.2884-4C>G http://identifiers.org/clinvar/346630 ^@ NM_032682.5(FOXP1):c.*510delG http://identifiers.org/clinvar/343631 ^@ NM_001184.3(ATR):c.-46_-9del38insT http://identifiers.org/clinvar/343531 ^@ NM_024334.2(TMEM43):c.*1115C>T http://identifiers.org/clinvar/346730 ^@ NM_002942.4(ROBO2):c.*1075T>C http://identifiers.org/clinvar/343581 ^@ NM_001184.3(ATR):c.7667C>G (p.Thr2556Ser) http://identifiers.org/clinvar/348419 ^@ NM_133330.2(NSD2):c.198C>T (p.Asn66=) http://identifiers.org/clinvar/353597 ^@ NM_002310.5(LIFR):c.*586A>T http://identifiers.org/clinvar/362085 ^@ NM_031466.7(TRAPPC9):c.1715T>G (p.Met572Arg) http://identifiers.org/clinvar/362135 ^@ NM_000497.3(CYP11B1):c.*495C>T http://identifiers.org/clinvar/358386 ^@ NM_005045.3(RELN):c.8005G>A (p.Val2669Ile) http://identifiers.org/clinvar/362235 ^@ NM_130849.3(SLC39A4):c.1234G>A (p.Ala412Thr) http://identifiers.org/clinvar/358486 ^@ NM_006348.3(COG5):c.-292C>G http://identifiers.org/clinvar/358686 ^@ NM_001127500.2(MET):c.1693A>G (p.Ile565Val) http://identifiers.org/clinvar/358936 ^@ NM_018718.2(CEP41):c.*409A>C http://identifiers.org/clinvar/354736 ^@ NM_001491.2(GCNT2):c.*2224G>C http://identifiers.org/clinvar/359136 ^@ NM_001080413.3(NOBOX):c.1774+11G>A http://identifiers.org/clinvar/359286 ^@ NM_004456.4(EZH2):c.396T>C (p.Pro132=) http://identifiers.org/clinvar/363174 ^@ NM_152419.2(HGSNAT):c.*1801T>C http://identifiers.org/clinvar/363674 ^@ NM_000503.5(EYA1):c.-271G>A http://identifiers.org/clinvar/363724 ^@ NM_018972.2(GDAP1):c.*618C>T http://identifiers.org/clinvar/360525 ^@ NM_004577.3(PSPH):c.-357C>T http://identifiers.org/clinvar/360575 ^@ NM_000048.3(ASL):c.*323G>A http://identifiers.org/clinvar/365263 ^@ NM_054012.3(ASS1):c.1053G>A (p.Val351=) http://identifiers.org/clinvar/360975 ^@ NM_000089.3(COL1A2):c.3883T>C (p.Ser1295Pro) http://identifiers.org/clinvar/361275 ^@ NM_178857.5(RP1L1):c.4514C>T (p.Ser1505Leu) http://identifiers.org/clinvar/361325 ^@ NM_178857.5(RP1L1):c.2991C>G (p.Asp997Glu) http://identifiers.org/clinvar/361375 ^@ NM_178857.5(RP1L1):c.1436G>A (p.Gly479Glu) http://identifiers.org/clinvar/365713 ^@ NM_000093.4(COL5A1):c.1830T>C (p.Gly610=) http://identifiers.org/clinvar/361426 ^@ NM_178857.5(RP1L1):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/361532 ^@ NM_014112.4(TRPS1):c.*4628T>C http://identifiers.org/clinvar/365763 ^@ NM_000093.4(COL5A1):c.*867_*868insATAGG http://identifiers.org/clinvar/361685 ^@ NM_002546.3(TNFRSF11B):c.*367G>A http://identifiers.org/clinvar/361735 ^@ NM_014846.3(WASHC5):c.187-3C>T http://identifiers.org/clinvar/366114 ^@ NM_144966.5(FREM1):c.4923C>T (p.Leu1641=) http://identifiers.org/clinvar/361785 ^@ NM_004519.3(KCNQ3):c.*5762G>A http://identifiers.org/clinvar/367114 ^@ NM_004972.3(JAK2):c.-197T>C http://identifiers.org/clinvar/311164 ^@ NM_001846.3(COL4A2):c.3634+4C>T http://identifiers.org/clinvar/311264 ^@ NM_000131.4(F7):c.*1614A>C http://identifiers.org/clinvar/366764 ^@ NM_032634.3(PIGO):c.-213C>G http://identifiers.org/clinvar/366914 ^@ NM_001042413.1(GLIS3):c.*2673dupA http://identifiers.org/clinvar/311664 ^@ NM_000059.3(BRCA2):c.*172G>A http://identifiers.org/clinvar/366964 ^@ NM_203447.3(DOCK8):c.2971-14A>G http://identifiers.org/clinvar/311714 ^@ NM_004795.3(KL):c.*202_*205delTGTT http://identifiers.org/clinvar/311814 ^@ NM_001127217.2(SMAD9):c.*3599A>T http://identifiers.org/clinvar/311864 ^@ NM_001127217.2(SMAD9):c.*997C>T http://identifiers.org/clinvar/364074 ^@ NM_014290.2(TDRD7):c.2488C>T (p.Arg830Cys) http://identifiers.org/clinvar/303905 ^@ NM_181507.1(HPS5):c.-250G>T http://identifiers.org/clinvar/364124 ^@ NM_004612.3(TGFBR1):c.*1710G>A http://identifiers.org/clinvar/304305 ^@ NM_000280.4(PAX6):c.*3736_*3737delCA http://identifiers.org/clinvar/304405 ^@ NM_024426.4(WT1):c.*393G>T http://identifiers.org/clinvar/364174 ^@ NM_004612.3(TGFBR1):c.*3790C>T http://identifiers.org/clinvar/313103 ^@ NM_020529.2(NFKBIA):c.*195C>T http://identifiers.org/clinvar/304555 ^@ NM_000536.3(RAG2):c.677A>G (p.Asn226Ser) http://identifiers.org/clinvar/299177 ^@ NM_000274.3(OAT):c.-30+8C>T http://identifiers.org/clinvar/313403 ^@ NM_000161.2(GCH1):c.-106G>A http://identifiers.org/clinvar/313553 ^@ NM_182914.2(SYNE2):c.10495A>C (p.Lys3499Gln) http://identifiers.org/clinvar/313603 ^@ NM_182914.2(SYNE2):c.15028A>G (p.Ser5010Gly) http://identifiers.org/clinvar/299027 ^@ NM_001099667.1(ARMS2):c.-60G>T http://identifiers.org/clinvar/299477 ^@ NM_001081.3(CUBN):c.4811G>T (p.Gly1604Val) http://identifiers.org/clinvar/299077 ^@ NM_001609.3(ACADSB):c.681+14C>T http://identifiers.org/clinvar/305257 ^@ NM_144585.3(SLC22A12):c.*517G>A http://identifiers.org/clinvar/299877 ^@ NM_021252.4(RAB18):c.*3705_*3708delGACT http://identifiers.org/clinvar/299927 ^@ NM_020975.4(RET):c.*1212C>T http://identifiers.org/clinvar/299977 ^@ NM_002900.2(RBP3):c.1806C>T (p.His602=) http://identifiers.org/clinvar/305457 ^@ NM_024649.4(BBS1):c.190C>G (p.Gln64Glu) http://identifiers.org/clinvar/299427 ^@ NM_001081.3(CUBN):c.7106G>T (p.Gly2369Val) http://identifiers.org/clinvar/305557 ^@ NM_006946.2(SPTBN2):c.4279-8G>A http://identifiers.org/clinvar/299527 ^@ NM_001081.3(CUBN):c.1165C>A (p.Pro389Thr) http://identifiers.org/clinvar/299627 ^@ NM_178161.2(PTF1A):c.960C>A (p.Asn320Lys) http://identifiers.org/clinvar/300177 ^@ NM_033056.3(PCDH15):c.4272A>G (p.Pro1424=) http://identifiers.org/clinvar/299777 ^@ NM_032844.4(MASTL):c.-254T>G http://identifiers.org/clinvar/306270 ^@ NM_024698.5(SLC25A22):c.-60_-55dupTCCACC http://identifiers.org/clinvar/306320 ^@ NM_032273.3(TMEM126A):c.-69T>A http://identifiers.org/clinvar/300077 ^@ NM_000124.3(ERCC6):c.1760C>T (p.Thr587Met) http://identifiers.org/clinvar/300777 ^@ NM_002658.4(PLAU):c.*880T>A http://identifiers.org/clinvar/315942 ^@ NM_138477.2(CDAN1):c.1968C>T (p.Thr656=) http://identifiers.org/clinvar/317882 ^@ NM_032520.4(GNPTG):c.394C>T (p.Arg132Trp) http://identifiers.org/clinvar/329465 ^@ NM_212550.4(BLOC1S3):c.-73A>C http://identifiers.org/clinvar/311314 ^@ NM_021954.3(GJA3):c.*846G>C http://identifiers.org/clinvar/329715 ^@ NM_000554.5(CRX):c.*595C>T http://identifiers.org/clinvar/311464 ^@ NM_002010.2(FGF9):c.*2186T>A http://identifiers.org/clinvar/311564 ^@ NM_014363.5(SACS):c.1224C>T (p.Asp408=) http://identifiers.org/clinvar/329915 ^@ NM_024729.3(MYH14):c.1963G>A (p.Asp655Asn) http://identifiers.org/clinvar/311614 ^@ NM_018451.4(CENPJ):c.2992-18_2992-17delGT http://identifiers.org/clinvar/329965 ^@ NM_024729.3(MYH14):c.*389C>G http://identifiers.org/clinvar/330065 ^@ NM_002739.4(PRKCG):c.1404C>G (p.Leu468=) http://identifiers.org/clinvar/318434 ^@ NM_000336.2(SCNN1B):c.1270+11G>T http://identifiers.org/clinvar/311964 ^@ NM_207361.5(FREM2):c.3517T>C (p.Phe1173Leu) http://identifiers.org/clinvar/318834 ^@ NM_000034.3(ALDOA):c.748G>A (p.Ala250Thr) http://identifiers.org/clinvar/312064 ^@ NM_207361.5(FREM2):c.*2113T>C http://identifiers.org/clinvar/337701 ^@ NM_018848.3(MKKS):c.-406G>C http://identifiers.org/clinvar/318984 ^@ NM_004960.3(FUS):c.403A>G (p.Ser135Gly) http://identifiers.org/clinvar/337751 ^@ NM_000214.2(JAG1):c.2300C>T (p.Thr767Met) http://identifiers.org/clinvar/337801 ^@ NM_006363.4(SEC23B):c.*318dupA http://identifiers.org/clinvar/337851 ^@ NM_000361.2(THBD):c.*1993T>C http://identifiers.org/clinvar/319134 ^@ NM_032444.2(SLX4):c.*555C>T http://identifiers.org/clinvar/312314 ^@ NM_000321.2(RB1):c.*1268G>A http://identifiers.org/clinvar/337951 ^@ NM_014588.5(VSX1):c.*200G>T http://identifiers.org/clinvar/319485 ^@ NM_022162.2(NOD2):c.*470C>T http://identifiers.org/clinvar/311214 ^@ NM_001846.3(COL4A2):c.*727G>C http://identifiers.org/clinvar/338351 ^@ NM_015474.3(SAMHD1):c.67T>A (p.Ser23Thr) http://identifiers.org/clinvar/311364 ^@ NM_004004.5(GJB2):c.*598C>A http://identifiers.org/clinvar/338601 ^@ NM_030777.3(SLC2A10):c.*56A>G http://identifiers.org/clinvar/311514 ^@ NM_014363.5(SACS):c.9887C>T (p.Pro3296Leu) http://identifiers.org/clinvar/338651 ^@ NM_000311.4(PRNP):c.372C>G (p.Gly124=) http://identifiers.org/clinvar/338701 ^@ NM_006420.2(ARFGEF2):c.4373A>G (p.Asn1458Ser) http://identifiers.org/clinvar/313003 ^@ NM_004086.2(COCH):c.981C>G (p.Gly327=) http://identifiers.org/clinvar/338852 ^@ NM_144773.3(PROKR2):c.1110C>T (p.Asn370=) http://identifiers.org/clinvar/313153 ^@ NM_006194.3(PAX9):c.-553C>A http://identifiers.org/clinvar/311764 ^@ NM_015087.4(SPG20):c.1954G>A (p.Asp652Asn) http://identifiers.org/clinvar/313353 ^@ NM_001202.5(BMP4):c.224A>G (p.Lys75Arg) http://identifiers.org/clinvar/313453 ^@ NM_005982.3(SIX1):c.*736T>G http://identifiers.org/clinvar/313503 ^@ NM_182914.2(SYNE2):c.3715C>G (p.Leu1239Val) http://identifiers.org/clinvar/312014 ^@ NM_207361.5(FREM2):c.7216-15A>G http://identifiers.org/clinvar/312114 ^@ NM_207361.5(FREM2):c.*5864A>C http://identifiers.org/clinvar/313703 ^@ NM_000347.5(SPTB):c.6174G>A (p.Thr2058=) http://identifiers.org/clinvar/313853 ^@ NM_015346.3(ZFYVE26):c.*1361T>C http://identifiers.org/clinvar/312264 ^@ NM_003850.2(SUCLA2):c.*195A>G http://identifiers.org/clinvar/313903 ^@ NM_015346.3(ZFYVE26):c.3912C>G (p.Ala1304=) http://identifiers.org/clinvar/339891 ^@ NM_144492.2(CLDN14):c.295G>A (p.Val99Ile) http://identifiers.org/clinvar/339991 ^@ NM_020639.2(RIPK4):c.*978C>G http://identifiers.org/clinvar/314103 ^@ NM_031427.3(DNAL1):c.*5416C>T http://identifiers.org/clinvar/340191 ^@ NM_130445.3(COL18A1):c.126G>A (p.Val42=) http://identifiers.org/clinvar/314253 ^@ NM_000428.2(LTBP2):c.*1170A>G http://identifiers.org/clinvar/326526 ^@ NM_001943.4(DSG2):c.*1136G>A http://identifiers.org/clinvar/326676 ^@ NM_032978.6(DTNA):c.*338C>G http://identifiers.org/clinvar/326776 ^@ NM_015559.2(SETBP1):c.*1536G>T http://identifiers.org/clinvar/326826 ^@ NM_144612.6(LOXHD1):c.6473G>A (p.Arg2158His) http://identifiers.org/clinvar/327126 ^@ NM_005359.5(SMAD4):c.*1187A>G http://identifiers.org/clinvar/328965 ^@ NM_032753.3(RAX2):c.*7C>T http://identifiers.org/clinvar/327226 ^@ NM_001083962.1(TCF4):c.*5383T>C http://identifiers.org/clinvar/329565 ^@ NM_025136.3(OPA3):c.*6394G>A http://identifiers.org/clinvar/368792 ^@ NM_024921.3(POF1B):c.-61C>T http://identifiers.org/clinvar/327776 ^@ NM_005786.5(TSHZ1):c.-396C>T http://identifiers.org/clinvar/329765 ^@ NM_000554.5(CRX):c.*2559G>C http://identifiers.org/clinvar/329865 ^@ NM_017636.3(TRPM4):c.2536G>T (p.Gly846Trp) http://identifiers.org/clinvar/328915 ^@ NM_001083961.1(WDR62):c.1977C>T (p.Asn659=) http://identifiers.org/clinvar/337901 ^@ NM_198994.2(TGM6):c.12C>G (p.Ile4Met) http://identifiers.org/clinvar/329215 ^@ NM_017827.3(SARS2):c.916+14_916+15delTG http://identifiers.org/clinvar/338101 ^@ NM_015338.5(ASXL1):c.2796A>G (p.Lys932=) http://identifiers.org/clinvar/329265 ^@ NM_181882.2(PRX):c.2620G>A (p.Ala874Thr) http://identifiers.org/clinvar/338401 ^@ NM_005461.4(MAFB):c.*229A>G http://identifiers.org/clinvar/329515 ^@ NM_000400.3(ERCC2):c.1237+5G>A http://identifiers.org/clinvar/338551 ^@ NM_004994.2(MMP9):c.878T>A (p.Ile293Asn) http://identifiers.org/clinvar/329615 ^@ NM_025136.3(OPA3):c.*3884G>A http://identifiers.org/clinvar/329665 ^@ NM_025136.3(OPA3):c.*986delA http://identifiers.org/clinvar/338802 ^@ NM_000782.4(CYP24A1):c.*438C>T http://identifiers.org/clinvar/339591 ^@ NM_000933.3(PLCB4):c.3086A>G (p.Asn1029Ser) http://identifiers.org/clinvar/340041 ^@ NM_024022.2(TMPRSS3):c.*692G>A http://identifiers.org/clinvar/340091 ^@ NM_000071.2(CBS):c.301C>G (p.Leu101Val) http://identifiers.org/clinvar/338251 ^@ NM_032034.3(SLC4A11):c.941C>T (p.Ala314Val) http://identifiers.org/clinvar/340542 ^@ NM_006031.5(PCNT):c.9211A>G (p.Arg3071Gly) http://identifiers.org/clinvar/340592 ^@ NM_014339.6(IL17RA):c.1137G>A (p.Lys379=) http://identifiers.org/clinvar/338751 ^@ NM_003859.2(DPM1):c.759A>G (p.Leu253=) http://identifiers.org/clinvar/340892 ^@ NM_004782.3(SNAP29):c.*2856G>A http://identifiers.org/clinvar/339641 ^@ NM_000484.3(APP):c.837_839dupCAC (p.Thr280_Glu281insThr) http://identifiers.org/clinvar/339741 ^@ NM_000219.5(KCNE1):c.*1701A>G http://identifiers.org/clinvar/339841 ^@ NM_001754.4(RUNX1):c.*1823A>C http://identifiers.org/clinvar/383893 ^@ NM_007327.3(GRIN1):c.394-13C>T http://identifiers.org/clinvar/377796 ^@ NM_203447.3(DOCK8):c.1516+16C>G http://identifiers.org/clinvar/392721 ^@ NM_000136.2(FANCC):c.997-6T>C http://identifiers.org/clinvar/377846 ^@ NM_000136.2(FANCC):c.896+6C>T http://identifiers.org/clinvar/392171 ^@ NM_002047.3(GARS):c.1700-17T>C http://identifiers.org/clinvar/391571 ^@ NM_024757.4(EHMT1):c.2622G>A (p.Trp874Ter) http://identifiers.org/clinvar/387043 ^@ NM_006393.2(NEBL):c.1776+15C>G http://identifiers.org/clinvar/383542 ^@ NG_017041.1:g.5146C>T http://identifiers.org/clinvar/383843 ^@ NM_015570.3(AUTS2):c.3184C>T (p.Pro1062Ser) http://identifiers.org/clinvar/390382 ^@ NM_000494.3(COL17A1):c.1906G>A (p.Gly636Arg) http://identifiers.org/clinvar/380848 ^@ NM_006096.3(NDRG1):c.-19+367G>T http://identifiers.org/clinvar/389532 ^@ NM_000445.4(PLEC):c.12108C>T (p.Arg4036=) http://identifiers.org/clinvar/391771 ^@ NM_000445.4(PLEC):c.3756C>T (p.Asp1252=) http://identifiers.org/clinvar/379645 ^@ NM_006904.6(PRKDC):c.9922+13C>T http://identifiers.org/clinvar/392621 ^@ NM_000051.3(ATM):c.8268+7A>G http://identifiers.org/clinvar/377946 ^@ NM_000834.3(GRIN2B):c.4179C>T (p.Asp1393=) http://identifiers.org/clinvar/378348 ^@ NM_003477.2(PDHX):c.1503C>T (p.Ala501=) http://identifiers.org/clinvar/381099 ^@ NM_000719.6(CACNA1C):c.5444+618C>T http://identifiers.org/clinvar/390032 ^@ NM_000218.2(KCNQ1):c.1119A>G (p.Ser373=) http://identifiers.org/clinvar/378554 ^@ NM_014191.3(SCN8A):c.707-15A>T http://identifiers.org/clinvar/387643 ^@ NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) http://identifiers.org/clinvar/391671 ^@ NM_024678.5(NARS2):c.418C>T (p.Arg140Ter) http://identifiers.org/clinvar/389382 ^@ NM_024698.5(SLC25A22):c.351G>A (p.Gln117=) http://identifiers.org/clinvar/380046 ^@ NM_024537.3(CARS2):c.1318-12G>A http://identifiers.org/clinvar/391471 ^@ NM_006231.3(POLE):c.4551+11G>A http://identifiers.org/clinvar/390282 ^@ NM_000289.5(PFKM):c.2085C>T (p.Tyr695=) http://identifiers.org/clinvar/380497 ^@ NM_005050.3(ABCD4):c.383C>T (p.Ala128Val) http://identifiers.org/clinvar/392121 ^@ NM_004990.3(MARS):c.2612C>T (p.Ala871Val) http://identifiers.org/clinvar/390582 ^@ NM_003480.3(MFAP5):c.12G>A (p.Leu4=) http://identifiers.org/clinvar/391621 ^@ NM_000138.4(FBN1):c.3415G>C (p.Glu1139Gln) http://identifiers.org/clinvar/393021 ^@ NM_000257.3(MYH7):c.1003G>C (p.Ala335Pro) http://identifiers.org/clinvar/380246 ^@ NM_000051.3(ATM):c.6150C>T (p.Asp2050=) http://identifiers.org/clinvar/380697 ^@ NM_002693.2(POLG):c.1356T>C (p.Tyr452=) http://identifiers.org/clinvar/377896 ^@ NM_017547.3(FOXRED1):c.*6T>C http://identifiers.org/clinvar/387693 ^@ NM_152594.2(SPRED1):c.933T>C (p.Phe311=) http://identifiers.org/clinvar/380647 ^@ NM_000548.4(TSC2):c.1346T>A (p.Met449Lys) http://identifiers.org/clinvar/381049 ^@ NM_000548.4(TSC2):c.3779C>T (p.Thr1260Met) http://identifiers.org/clinvar/380296 ^@ NM_001083614.1(EARS2):c.813C>T (p.Phe271=) http://identifiers.org/clinvar/387843 ^@ NM_015272.4(RPGRIP1L):c.3702-16A>G http://identifiers.org/clinvar/377996 ^@ NM_001101362.2(KBTBD13):c.115G>C (p.Gly39Arg) http://identifiers.org/clinvar/377696 ^@ NM_017882.2(CLN6):c.810C>G (p.Leu270=) http://identifiers.org/clinvar/391321 ^@ NM_000548.4(TSC2):c.1032G>A (p.Arg344=) http://identifiers.org/clinvar/387493 ^@ NM_000833.4(GRIN2A):c.4170G>A (p.Ser1390=) http://identifiers.org/clinvar/48110 ^@ NM_000337.5(SGCD):c.-179A>G http://identifiers.org/clinvar/6 ^@ NM_017547.3(FOXRED1):c.1289A>G (p.Asn430Ser) http://identifiers.org/clinvar/18 ^@ NM_000410.3(HFE):c.989G>T (p.Arg330Met) http://identifiers.org/clinvar/34 ^@ NM_138413.3(HOGA1):c.769T>G (p.Cys257Gly) http://identifiers.org/clinvar/175 ^@ NM_000274.3(OAT):c.627T>A (p.Tyr209Ter) http://identifiers.org/clinvar/189 ^@ NM_001017995.2(SH3PXD2B):c.969delG (p.Arg324Glyfs) http://identifiers.org/clinvar/198 ^@ NM_001173990.2(TMEM216):c.218G>A (p.Arg73His) http://identifiers.org/clinvar/349 ^@ NM_000267.3(NF1):c.8042dupA (p.Tyr2681Terfs) http://identifiers.org/clinvar/363 ^@ NM_000267.3(NF1):c.2970_2972delAAT (p.Met992del) http://identifiers.org/clinvar/391 ^@ NM_000405.4(GM2A):c.506G>C (p.Arg169Pro) http://identifiers.org/clinvar/664 ^@ NM_000312.3(PROC):c.185A>C (p.Glu62Ala) http://identifiers.org/clinvar/745 ^@ NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) http://identifiers.org/clinvar/754 ^@ NM_015575.3(GIGYF2):c.1370A>C (p.Asn457Thr) http://identifiers.org/clinvar/763 ^@ NM_015702.2(MMADHC):c.746A>G (p.Tyr249Cys) http://identifiers.org/clinvar/772 ^@ NM_198488.3(FAM83H):c.1243G>T (p.Glu415Ter) http://identifiers.org/clinvar/795 ^@ NM_000038.5(APC):c.1369delT (p.Ser457Hisfs) http://identifiers.org/clinvar/813 ^@ NM_000038.5(APC):c.470G>A (p.Trp157Ter) http://identifiers.org/clinvar/836 ^@ APC, 11-BP INS, NT1060 http://identifiers.org/clinvar/1336 ^@ CEP290, 5-BP DEL http://identifiers.org/clinvar/1381 ^@ NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser) http://identifiers.org/clinvar/1427 ^@ NM_001177317.1(SLC34A3):c.1058G>T (p.Arg353Leu) http://identifiers.org/clinvar/1472 ^@ NM_000190.3(HMBS):c.754G>A (p.Ala252Thr) http://identifiers.org/clinvar/1518 ^@ PKLR, 1-BP DEL, 823G http://identifiers.org/clinvar/1563 ^@ NM_000263.3(NAGLU):c.1928G>A (p.Arg643His) http://identifiers.org/clinvar/1608 ^@ NM_024884.2(L2HGDH):c.1115delT (p.Met372Serfs) http://identifiers.org/clinvar/1658 ^@ NM_000785.3(CYP27B1):c.320G>A (p.Arg107His) http://identifiers.org/clinvar/1702 ^@ ERCC6, 1-BP DEL, 1597G http://identifiers.org/clinvar/1844 ^@ NM_138701.3(MPLKIP):c.430A>G (p.Met144Val) http://identifiers.org/clinvar/1934 ^@ NM_020166.4(MCCC1):c.2079delA (p.Val694Terfs) http://identifiers.org/clinvar/2251 ^@ NM_000265.5(NCF1):c.125G>A (p.Arg42Gln) http://identifiers.org/clinvar/2297 ^@ NM_015046.5(SETX):c.343_345delCTT (p.Leu115del) http://identifiers.org/clinvar/2342 ^@ NM_130468.3(CHST14):c.866G>C (p.Cys289Ser) http://identifiers.org/clinvar/2389 ^@ NM_000045.3(ARG1):c.869C>G (p.Thr290Ser) http://identifiers.org/clinvar/3211 ^@ NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) http://identifiers.org/clinvar/3260 ^@ NM_000529.2(MC2R):c.360C>G (p.Ser120Arg) http://identifiers.org/clinvar/3305 ^@ NM_139248.2(LIPH):c.322T>C (p.Trp108Arg) http://identifiers.org/clinvar/3350 ^@ NM_000348.3(SRD5A2):c.78C>G (p.Tyr26Ter) http://identifiers.org/clinvar/12189 ^@ NM_001166120.1(HSD3B2):c.1119A>C (p.Ter373Cys) http://identifiers.org/clinvar/12241 ^@ NM_004360.4(CDH1):c.1792C>T (p.Arg598Ter) http://identifiers.org/clinvar/12291 ^@ UNG, 2-BP DEL, 639TA http://identifiers.org/clinvar/12343 ^@ NM_001065.3(TNFRSF1A):c.184T>G (p.Cys62Gly) http://identifiers.org/clinvar/12394 ^@ NM_000548.4(TSC2):c.34A>T (p.Lys12Ter) http://identifiers.org/clinvar/12446 ^@ NM_152263.3(TPM3):c.26T>G (p.Met9Arg) http://identifiers.org/clinvar/12496 ^@ NM_000359.2(TGM1):c.1552G>A (p.Val518Met) http://identifiers.org/clinvar/12546 ^@ NM_001128177.1(THRB):c.1040G>A (p.Gly347Glu) http://identifiers.org/clinvar/12597 ^@ NM_004985.4(KRAS):c.178G>A (p.Gly60Ser) http://identifiers.org/clinvar/12647 ^@ NM_000458.3(HNF1B):c.494G>A (p.Arg165His) http://identifiers.org/clinvar/12698 ^@ NM_003235.4(TG):c.3082A>G (p.Met1028Val) http://identifiers.org/clinvar/12749 ^@ NM_198053.2(CD247):c.208C>T (p.Gln70Ter) http://identifiers.org/clinvar/12799 ^@ NM_004959.4(NR5A1):c.18delC (p.Asp6Glufs) http://identifiers.org/clinvar/12849 ^@ NM_003126.2(SPTA1):c.135G>T (p.Arg45Ser) http://identifiers.org/clinvar/12900 ^@ SCN1A, 6.5-KB DEL http://identifiers.org/clinvar/12950 ^@ NM_003035.2(STIL):c.2826+1G>A http://identifiers.org/clinvar/13001 ^@ NM_000996.2(RPL35A):c.97G>A (p.Val33Ile) http://identifiers.org/clinvar/13052 ^@ NM_000539.3(RHO):c.1033G>C (p.Val345Leu) http://identifiers.org/clinvar/13103 ^@ NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter) http://identifiers.org/clinvar/13153 ^@ RAG1, 1-BP DEL, 631T http://identifiers.org/clinvar/13205 ^@ SFTPB, 479G-T http://identifiers.org/clinvar/13256 ^@ NM_001079.3(ZAP70):c.1510_1522delAAGTGGTACGCAC (p.Lys504Profs) http://identifiers.org/clinvar/13307 ^@ NM_000506.3(F2):c.1139T>C (p.Met380Thr) http://identifiers.org/clinvar/13357 ^@ NM_001035256.2(POMC):c.403_404dupGG (p.Lys136Alafs) http://identifiers.org/clinvar/13411 ^@ NM_000311.4(PRNP):c.623G>A (p.Arg208His) http://identifiers.org/clinvar/39498 ^@ NM_001313726.1(ANO3):c.2236A>G (p.Ser746Gly) http://identifiers.org/clinvar/39548 ^@ NM_001165960.1(ALOXE3):c.1238G>T (p.Gly413Val) http://identifiers.org/clinvar/39598 ^@ NM_020822.2(KCNT1):c.2386T>C (p.Tyr796His) http://identifiers.org/clinvar/39650 ^@ DNAH5, 6249G-A http://identifiers.org/clinvar/39702 ^@ NM_006516.2(SLC2A1):c.668G>C (p.Arg223Pro) http://identifiers.org/clinvar/39753 ^@ NM_145239.2(PRRT2):c.562C>T (p.Gln188Ter) http://identifiers.org/clinvar/39803 ^@ NM_001276312.1(NOL3):c.61G>C (p.Glu21Gln) http://identifiers.org/clinvar/39854 ^@ AP1S1, IVS2AS, A-G, -2 http://identifiers.org/clinvar/40009 ^@ NM_001329595.1(KLHL10):c.937G>A (p.Ala313Thr) http://identifiers.org/clinvar/40180 ^@ NM_014239.3(EIF2B2):c.254T>A (p.Val85Glu) http://identifiers.org/clinvar/40291 ^@ LRP5, IVS7, G-A, +1 http://identifiers.org/clinvar/40400 ^@ NM_005188.3(CBL):c.125_127dupACC (p.His42_Leu43insHis) http://identifiers.org/clinvar/40469 ^@ NM_002524.4(NRAS):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/40528 ^@ NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) http://identifiers.org/clinvar/40589 ^@ NM_002880.3(RAF1):c.388T>A (p.Phe130Ile) http://identifiers.org/clinvar/40654 ^@ NM_005633.3(SOS1):c.512T>G (p.Val171Gly) http://identifiers.org/clinvar/40744 ^@ NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) http://identifiers.org/clinvar/40839 ^@ NM_030662.3(MAP2K2):c.938G>A (p.Arg313Gln) http://identifiers.org/clinvar/41014 ^@ NM_000530.7(MPZ):c.89T>C (p.Ile30Thr) http://identifiers.org/clinvar/41069 ^@ NM_003611.2(OFD1):c.1222-?_(*_?)del http://identifiers.org/clinvar/41126 ^@ NM_003611.2(OFD1):c.454C>T (p.Gln152Ter) http://identifiers.org/clinvar/41178 ^@ NM_003977.3(AIP):c.404delA (p.His135Leufs) http://identifiers.org/clinvar/41236 ^@ NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) http://identifiers.org/clinvar/51138 ^@ NM_000059.3(BRCA2):c.151delG (p.Glu51Asnfs) http://identifiers.org/clinvar/51189 ^@ NM_000059.3(BRCA2):c.1769T>G (p.Phe590Cys) http://identifiers.org/clinvar/51242 ^@ NM_000059.3(BRCA2):c.2094delA (p.Gln699Serfs) http://identifiers.org/clinvar/51292 ^@ NM_000059.3(BRCA2):c.2464T>C (p.Cys822Arg) http://identifiers.org/clinvar/51343 ^@ NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) http://identifiers.org/clinvar/51393 ^@ NM_000059.3(BRCA2):c.3073A>G (p.Lys1025Glu) http://identifiers.org/clinvar/51444 ^@ NM_000059.3(BRCA2):c.3283C>T (p.Gln1095Ter) http://identifiers.org/clinvar/51495 ^@ NM_000059.3(BRCA2):c.3635A>T (p.Asn1212Ile) http://identifiers.org/clinvar/51546 ^@ NM_000059.3(BRCA2):c.3860dupA (p.Asn1287Lysfs) http://identifiers.org/clinvar/51598 ^@ NM_000059.3(BRCA2):c.410delC (p.Ser137Phefs) http://identifiers.org/clinvar/51650 ^@ NM_000059.3(BRCA2):c.4456_4459delGTTA (p.Val1486Asnfs) http://identifiers.org/clinvar/51702 ^@ NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) http://identifiers.org/clinvar/51752 ^@ NM_000059.3(BRCA2):c.4987_4990delGTCA (p.Val1663Leufs) http://identifiers.org/clinvar/51804 ^@ NM_000059.3(BRCA2):c.5171delT (p.Ile1724Lysfs) http://identifiers.org/clinvar/51857 ^@ NM_000059.3(BRCA2):c.5405A>G (p.Gln1802Arg) http://identifiers.org/clinvar/51909 ^@ NM_000059.3(BRCA2):c.5683G>C (p.Glu1895Gln) http://identifiers.org/clinvar/51961 ^@ NM_000059.3(BRCA2):c.5891A>G (p.Lys1964Arg) http://identifiers.org/clinvar/52012 ^@ NM_000059.3(BRCA2):c.6101G>A (p.Arg2034His) http://identifiers.org/clinvar/52063 ^@ NM_000059.3(BRCA2):c.632-2A>G http://identifiers.org/clinvar/52764 ^@ NM_000059.3(BRCA2):c.9157delG (p.Glu3053Serfs) http://identifiers.org/clinvar/52815 ^@ NM_000059.3(BRCA2):c.9324_9325insATTA (p.Leu3109Ilefs) http://identifiers.org/clinvar/52866 ^@ NM_000059.3(BRCA2):c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs) http://identifiers.org/clinvar/52916 ^@ NM_000059.3(BRCA2):c.9924C>G (p.Tyr3308Ter) http://identifiers.org/clinvar/52966 ^@ NM_000218.2(KCNQ1):c.1166C>A (p.Ser389Tyr) http://identifiers.org/clinvar/53016 ^@ NM_000218.2(KCNQ1):c.1771C>T (p.Arg591Cys) http://identifiers.org/clinvar/53066 ^@ NM_000218.2(KCNQ1):c.560T>C (p.Leu187Pro) http://identifiers.org/clinvar/53117 ^@ NM_000218.2(KCNQ1):c.839T>A (p.Val280Glu) http://identifiers.org/clinvar/53220 ^@ NM_000492.3(CFTR):c.1234delG (p.Ala412Glnfs) http://identifiers.org/clinvar/53272 ^@ NM_000492.3(CFTR):c.1505T>C (p.Ile502Thr) http://identifiers.org/clinvar/53323 ^@ NM_000492.3(CFTR):c.1660_1661insA (p.Ala554Aspfs) http://identifiers.org/clinvar/53373 ^@ NM_000492.3(CFTR):c.174_177delTAGA (p.Asp58Glufs) http://identifiers.org/clinvar/53424 ^@ NM_000492.3(CFTR):c.2010dupA (p.Leu671Ilefs) http://identifiers.org/clinvar/53478 ^@ NM_000492.3(CFTR):c.2341C>T (p.Gln781Ter) http://identifiers.org/clinvar/53528 ^@ NM_000492.3(CFTR):c.2620-1G>T http://identifiers.org/clinvar/53578 ^@ NM_000492.3(CFTR):c.2846A>T (p.His949Leu) http://identifiers.org/clinvar/53629 ^@ NM_000492.3(CFTR):c.3022delG (p.Val1008Serfs) http://identifiers.org/clinvar/53681 ^@ NM_000492.3(CFTR):c.3200C>A (p.Ala1067Asp) http://identifiers.org/clinvar/53731 ^@ NM_000492.3(CFTR):c.338A>T (p.Asn113Ile) http://identifiers.org/clinvar/53782 ^@ NM_000492.3(CFTR):c.3618_3619delAG (p.Gly1208Profs) http://identifiers.org/clinvar/53834 ^@ NM_000492.3(CFTR):c.3874-8T>A http://identifiers.org/clinvar/53886 ^@ NM_000492.3(CFTR):c.409_412delCTCC (p.Leu137Tyrfs) http://identifiers.org/clinvar/53937 ^@ NM_000492.3(CFTR):c.4276T>C (p.Ser1426Pro) http://identifiers.org/clinvar/53987 ^@ NM_000492.3(CFTR):c.526delA (p.Ser176Valfs) http://identifiers.org/clinvar/54037 ^@ NM_000492.3(CFTR):c.659A>G (p.Gln220Arg) http://identifiers.org/clinvar/54089 ^@ NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) http://identifiers.org/clinvar/54139 ^@ NM_007294.3(BRCA1):c.1127A>G (p.Asn376Ser) http://identifiers.org/clinvar/54189 ^@ NM_007294.3(BRCA1):c.1293_1295delACTinsGA (p.Leu432Argfs) http://identifiers.org/clinvar/54491 ^@ NM_007294.3(BRCA1):c.2193_2196delAGAA (p.Glu732Argfs) http://identifiers.org/clinvar/54541 ^@ NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) http://identifiers.org/clinvar/54591 ^@ NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln) http://identifiers.org/clinvar/54641 ^@ NM_007294.3(BRCA1):c.2679_2680delGA (p.Lys894Thrfs) http://identifiers.org/clinvar/55487 ^@ NM_007294.3(BRCA1):c.5258G>A (p.Arg1753Lys) http://identifiers.org/clinvar/55540 ^@ NM_007294.3(BRCA1):c.5335C>T (p.Gln1779Ter) http://identifiers.org/clinvar/55590 ^@ NM_007294.3(BRCA1):c.547+1G>T http://identifiers.org/clinvar/55640 ^@ NM_007294.3(BRCA1):c.569_570insAACG (p.Val191Thrfs) http://identifiers.org/clinvar/55693 ^@ NM_007294.3(BRCA1):c.763G>T (p.Glu255Ter) http://identifiers.org/clinvar/55744 ^@ NM_007294.3(BRCA1):c.895_896delGT (p.Val299Argfs) http://identifiers.org/clinvar/55812 ^@ NM_001142864.3(PIEZO1):c.7479_7484dupGGAGCT (p.Glu2496_Glu2497insLeuGlu) http://identifiers.org/clinvar/55878 ^@ NM_004656.3(BAP1):c.78_79delGG (p.Val27Alafs) http://identifiers.org/clinvar/55951 ^@ NM_000027.3(AGA):c.754G>C (p.Gly252Arg) http://identifiers.org/clinvar/56002 ^@ NM_000111.2(SLC26A3):c.408G>A (p.Met136Ile) http://identifiers.org/clinvar/56055 ^@ NM_000170.2(GLDC):c.1952A>G (p.His651Arg) http://identifiers.org/clinvar/56106 ^@ NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) http://identifiers.org/clinvar/56160 ^@ NM_000130.4(F5):c.5392G>A (p.Glu1798Lys) http://identifiers.org/clinvar/56211 ^@ NM_000310.3(PPT1):c.674T>C (p.Phe225Ser) http://identifiers.org/clinvar/56262 ^@ NM_001042432.1(CLN3):c.265C>T (p.Arg89Ter) http://identifiers.org/clinvar/56314 ^@ NM_001080522.2(CC2D2A):c.4496+2T>A http://identifiers.org/clinvar/56364 ^@ NM_001126105.2(SLC7A7):c.215_218delCTCT (p.Ser72Trpfs) http://identifiers.org/clinvar/56416 ^@ NM_004646.3(NPHS1):c.-475_-468delGAGAGAGA http://identifiers.org/clinvar/56466 ^@ NM_004646.3(NPHS1):c.2172_2173delTG (p.Glu725Glyfs) http://identifiers.org/clinvar/56516 ^@ NM_004646.3(NPHS1):c.58+1G>T http://identifiers.org/clinvar/56567 ^@ NM_015294.4(TRIM37):c.2056C>T (p.Arg686Ter) http://identifiers.org/clinvar/56624 ^@ NM_017777.3(MKS1):c.515+1G>A http://identifiers.org/clinvar/56675 ^@ NM_017890.4(VPS13B):c.5613_5614insT (p.Lys1872Terfs) http://identifiers.org/clinvar/56725 ^@ NM_018965.3(TREM2):c.482+2T>C http://identifiers.org/clinvar/56775 ^@ NM_153704.5(TMEM67):c.2528A>G (p.Tyr843Cys) http://identifiers.org/clinvar/56908 ^@ NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp) http://identifiers.org/clinvar/101423 ^@ NM_000090.3(COL3A1):c.997-10A>G (p.Pro332_Gly333insFFQ) http://identifiers.org/clinvar/127662 ^@ NM_000314.6(PTEN):c.-1170C>T http://identifiers.org/clinvar/127720 ^@ NM_000465.3(BARD1):c.1690C>T (p.Gln564Ter) http://identifiers.org/clinvar/127770 ^@ NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) http://identifiers.org/clinvar/160366 ^@ NM_080680.2(COL11A2):c.109G>T (p.Ala37Ser) http://identifiers.org/clinvar/160819 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 http://identifiers.org/clinvar/160870 ^@ GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 http://identifiers.org/clinvar/160923 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 http://identifiers.org/clinvar/160974 ^@ GRCh38/hg38 5q23.1(chr5:117766849-118700657)x1 http://identifiers.org/clinvar/161025 ^@ GRCh38/hg38 2q13(chr2:110104900-110201550)x3 http://identifiers.org/clinvar/161075 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 http://identifiers.org/clinvar/161125 ^@ NM_152296.4(ATP1A3):c.965T>A (p.Val322Asp) http://identifiers.org/clinvar/161357 ^@ NM_000264.3(PTCH1):c.1234G>T (p.Ala412Ser) http://identifiers.org/clinvar/161307 ^@ NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys) http://identifiers.org/clinvar/161207 ^@ NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn) http://identifiers.org/clinvar/161257 ^@ NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) http://identifiers.org/clinvar/161413 ^@ NM_021209.4(NLRC4):c.1328A>C (p.His443Pro) http://identifiers.org/clinvar/161476 ^@ NM_001001396.2(ATP2B4):c.999C>A (p.Asp333Glu) http://identifiers.org/clinvar/161776 ^@ NM_030904.1(OR2T1):c.136G>A (p.Gly46Ser) http://identifiers.org/clinvar/161526 ^@ NM_001136049.2(LMLN):c.1117G>T (p.Gly373Cys) http://identifiers.org/clinvar/161726 ^@ NM_019030.3(DHX29):c.875A>T (p.Glu292Val) http://identifiers.org/clinvar/161826 ^@ NM_170724.2(PKHD1):c.544G>A (p.Ala182Thr) http://identifiers.org/clinvar/161626 ^@ NM_004853.2(STX8):c.434A>C (p.Gln145Pro) http://identifiers.org/clinvar/161676 ^@ NM_014364.4(GAPDHS):c.1129G>A (p.Asp377Asn) http://identifiers.org/clinvar/161576 ^@ NM_001242898.1(PPP6R2):c.2350C>T (p.Arg784Trp) http://identifiers.org/clinvar/161990 ^@ NM_002769.4(PRSS1):c.390C>T (p.Thr130=) http://identifiers.org/clinvar/162056 ^@ NM_001244008.1(KIF1A):c.604G>C (p.Ala202Pro) http://identifiers.org/clinvar/162116 ^@ NM_005211.3(CSF1R):c.2701C>T (p.Pro901Ser) http://identifiers.org/clinvar/162175 ^@ NC_000015.10:g.58396268C>G http://identifiers.org/clinvar/162387 ^@ NM_152515.4(CKAP2L):c.751delA (p.Ser251Alafs) http://identifiers.org/clinvar/162468 ^@ NM_000701.7(ATP1A1):c.995T>G (p.Val332Gly) http://identifiers.org/clinvar/178376 ^@ NM_013296.4(GPSM2):c.1739C>T (p.Ser580Leu) http://identifiers.org/clinvar/177874 ^@ NM_005572.3(LMNA):c.739G>A (p.Glu247Lys) http://identifiers.org/clinvar/165178 ^@ NM_003000.2(SDHB):c.*159_*184delinsGAACCTGTTCCTTTACTTGCCCCAA http://identifiers.org/clinvar/165082 ^@ NM_001035.2(RYR2):c.2562A>G (p.Thr854=) http://identifiers.org/clinvar/178126 ^@ NM_001035.2(RYR2):c.12957C>T (p.Val4319=) http://identifiers.org/clinvar/177774 ^@ NM_206933.2(USH2A):c.11549-5delT http://identifiers.org/clinvar/178576 ^@ NM_206933.2(USH2A):c.11597C>T (p.Ala3866Val) http://identifiers.org/clinvar/165905 ^@ NM_133378.4(TTN):c.56096C>T (p.Pro18699Leu) http://identifiers.org/clinvar/178176 ^@ NM_001256850.1(TTN):c.83417C>G (p.Thr27806Arg) http://identifiers.org/clinvar/165798 ^@ NM_133378.4(TTN):c.74912C>G (p.Ser24971Cys) http://identifiers.org/clinvar/166104 ^@ NM_133378.4(TTN):c.30460G>T (p.Val10154Phe) http://identifiers.org/clinvar/178226 ^@ NM_133378.4(TTN):c.29221C>T (p.Arg9741Trp) http://identifiers.org/clinvar/166238 ^@ NM_001256850.1(TTN):c.11450T>A (p.Ile3817Asn) http://identifiers.org/clinvar/166288 ^@ NM_133432.3(TTN):c.10439T>C (p.Ile3480Thr) http://identifiers.org/clinvar/178276 ^@ NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) http://identifiers.org/clinvar/178626 ^@ NM_194248.2(OTOF):c.*126G>A http://identifiers.org/clinvar/164860 ^@ NM_194248.2(OTOF):c.2524-14C>T http://identifiers.org/clinvar/166348 ^@ NM_001256850.1(TTN):c.1449C>T (p.Ala483=) http://identifiers.org/clinvar/163694 ^@ NM_001199799.1(ILDR1):c.1582A>G (p.Ser528Gly) http://identifiers.org/clinvar/165982 ^@ NM_133378.4(TTN):c.46199G>A (p.Arg15400His) http://identifiers.org/clinvar/178026 ^@ NM_004415.3(DSP):c.1743C>T (p.Ala581=) http://identifiers.org/clinvar/164639 ^@ NM_004999.3(MYO6):c.2836C>T (p.Arg946Cys) http://identifiers.org/clinvar/178526 ^@ NM_002700.2(POU4F3):c.490C>T (p.Pro164Ser) http://identifiers.org/clinvar/163606 ^@ NM_032119.3(ADGRV1):c.12489G>C (p.Gly4163=) http://identifiers.org/clinvar/198547 ^@ NM_006790.2(MYOT):c.981T>C (p.Asn327=) http://identifiers.org/clinvar/198599 ^@ NM_001015877.1(PHF6):c.706G>A (p.Ala236Thr) http://identifiers.org/clinvar/198650 ^@ NM_001277115.1(DNAH11):c.11691-20dupT http://identifiers.org/clinvar/198701 ^@ NM_000240.3(MAOA):c.825G>A (p.Pro275=) http://identifiers.org/clinvar/198756 ^@ NM_001005741.2(GBA):c.762-18T>A http://identifiers.org/clinvar/200965 ^@ NM_170707.3(LMNA):c.1401G>A (p.Trp467Ter) http://identifiers.org/clinvar/201159 ^@ NM_001035.2(RYR2):c.677-1G>A http://identifiers.org/clinvar/201212 ^@ NM_001035.2(RYR2):c.1240C>T (p.Arg414Cys) http://identifiers.org/clinvar/201382 ^@ NM_001035.2(RYR2):c.4882A>G (p.Met1628Val) http://identifiers.org/clinvar/201268 ^@ NM_001035.2(RYR2):c.6916G>C (p.Val2306Leu) http://identifiers.org/clinvar/201323 ^@ NM_001035.2(RYR2):c.12239A>G (p.Tyr4080Cys) http://identifiers.org/clinvar/201492 ^@ NM_198056.2(SCN5A):c.3325A>G (p.Ser1109Gly) http://identifiers.org/clinvar/201550 ^@ NM_198056.2(SCN5A):c.1363A>G (p.Thr455Ala) http://identifiers.org/clinvar/201437 ^@ NM_198056.2(SCN5A):c.612-229T>A http://identifiers.org/clinvar/200666 ^@ NM_000238.3(KCNH2):c.2731_2732dupGG (p.Arg912Alafs) http://identifiers.org/clinvar/200241 ^@ NM_000238.3(KCNH2):c.2398+179G>A http://identifiers.org/clinvar/200372 ^@ NM_000238.3(KCNH2):c.1693G>C (p.Ala565Pro) http://identifiers.org/clinvar/200785 ^@ NM_000238.3(KCNH2):c.1142delG (p.Gly381Alafs) http://identifiers.org/clinvar/200546 ^@ NM_000238.3(KCNH2):c.125T>C (p.Ile42Thr) http://identifiers.org/clinvar/200849 ^@ NM_000218.2(KCNQ1):c.1464C>A (p.Asp488Glu) http://identifiers.org/clinvar/200906 ^@ NM_000218.2(KCNQ1):c.1631A>T (p.Gln544Leu) http://identifiers.org/clinvar/200109 ^@ NM_000138.4(FBN1):c.7246G>A (p.Gly2416Arg) http://identifiers.org/clinvar/200168 ^@ NM_000138.4(FBN1):c.6214_6216delTCA (p.Ser2072del) http://identifiers.org/clinvar/200055 ^@ NM_000138.4(FBN1):c.4738G>A (p.Val1580Met) http://identifiers.org/clinvar/201040 ^@ NM_022844.2(MYH11):c.5787-11_5787-8delCTCT http://identifiers.org/clinvar/201093 ^@ NM_002474.2(MYH11):c.33G>C (p.Glu11Asp) http://identifiers.org/clinvar/201721 ^@ NM_001927.3(DES):c.364T>G (p.Tyr122Asp) http://identifiers.org/clinvar/201665 ^@ NM_014391.2(ANKRD1):c.553C>G (p.Leu185Val) http://identifiers.org/clinvar/201610 ^@ NM_020297.3(ABCC9):c.285-16G>A http://identifiers.org/clinvar/201775 ^@ NM_000117.2(EMD):c.608G>A (p.Arg203His) http://identifiers.org/clinvar/202902 ^@ NM_001256850.1(TTN):c.76091_76093delTAA (p.Ile25364del) http://identifiers.org/clinvar/202852 ^@ NM_001256850.1(TTN):c.68956G>A (p.Asp22986Asn) http://identifiers.org/clinvar/231880 ^@ NM_005732.3(RAD50):c.2224T>A (p.Leu742Met) http://identifiers.org/clinvar/234073 ^@ NM_005732.3(RAD50):c.3682A>G (p.Ile1228Val) http://identifiers.org/clinvar/231780 ^@ NM_005732.3(RAD50):c.3847G>A (p.Val1283Met) http://identifiers.org/clinvar/230291 ^@ NM_000535.6(PMS2):c.1248C>A (p.Ser416=) http://identifiers.org/clinvar/231330 ^@ NM_002485.4(NBN):c.2213C>T (p.Ser738Phe) http://identifiers.org/clinvar/233873 ^@ NM_002485.4(NBN):c.874T>C (p.Ser292Pro) http://identifiers.org/clinvar/229991 ^@ NM_020975.4(RET):c.2461A>G (p.Lys821Glu) http://identifiers.org/clinvar/234223 ^@ NM_004329.2(BMPR1A):c.902C>A (p.Ser301Tyr) http://identifiers.org/clinvar/232480 ^@ NM_000051.3(ATM):c.344T>G (p.Leu115Arg) http://identifiers.org/clinvar/230441 ^@ NM_000051.3(ATM):c.1179G>C (p.Trp393Cys) http://identifiers.org/clinvar/232530 ^@ NM_000051.3(ATM):c.1741T>G (p.Leu581Val) http://identifiers.org/clinvar/232881 ^@ NM_000051.3(ATM):c.6246A>G (p.Lys2082=) http://identifiers.org/clinvar/231730 ^@ NM_000051.3(ATM):c.6303A>G (p.Gln2101=) http://identifiers.org/clinvar/230391 ^@ NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) http://identifiers.org/clinvar/230341 ^@ NM_000051.3(ATM):c.7088delA (p.Lys2363Argfs) http://identifiers.org/clinvar/233822 ^@ NM_000051.3(ATM):c.7571C>T (p.Ala2524Val) http://identifiers.org/clinvar/232931 ^@ NM_000051.3(ATM):c.8461A>G (p.Met2821Val) http://identifiers.org/clinvar/232330 ^@ NM_000051.3(ATM):c.8552C>T (p.Ala2851Val) http://identifiers.org/clinvar/234173 ^@ NM_003002.3(SDHD):c.353A>G (p.Asp118Gly) http://identifiers.org/clinvar/232180 ^@ NM_000059.3(BRCA2):c.3113A>G (p.Tyr1038Cys) http://identifiers.org/clinvar/231930 ^@ NM_000059.3(BRCA2):c.6521T>C (p.Val2174Ala) http://identifiers.org/clinvar/232781 ^@ NM_024675.3(PALB2):c.3494C>T (p.Ser1165Leu) http://identifiers.org/clinvar/233131 ^@ NM_024675.3(PALB2):c.3201+3A>C http://identifiers.org/clinvar/230141 ^@ NM_024675.3(PALB2):c.2325A>C (p.Gln775His) http://identifiers.org/clinvar/232030 ^@ NM_024675.3(PALB2):c.1918T>G (p.Ser640Ala) http://identifiers.org/clinvar/231830 ^@ NM_024675.3(PALB2):c.37_39delGAG (p.Glu13del) http://identifiers.org/clinvar/232080 ^@ NM_024675.3(PALB2):c.27C>G (p.Leu9=) http://identifiers.org/clinvar/230191 ^@ NM_024675.3(PALB2):c.15C>T (p.Pro5=) http://identifiers.org/clinvar/232981 ^@ NM_004360.4(CDH1):c.1922A>G (p.Gln641Arg) http://identifiers.org/clinvar/229841 ^@ NM_001042492.2(NF1):c.2116G>A (p.Ala706Thr) http://identifiers.org/clinvar/232831 ^@ NM_007294.3(BRCA1):c.5245C>A (p.Pro1749Thr) http://identifiers.org/clinvar/231380 ^@ NM_007294.3(BRCA1):c.2889T>C (p.Thr963=) http://identifiers.org/clinvar/229791 ^@ NM_007294.3(BRCA1):c.2625A>T (p.Pro875=) http://identifiers.org/clinvar/233923 ^@ NM_007294.3(BRCA1):c.1324T>C (p.Cys442Arg) http://identifiers.org/clinvar/232581 ^@ NM_058216.2(RAD51C):c.52C>T (p.Pro18Ser) http://identifiers.org/clinvar/229691 ^@ NM_058216.2(RAD51C):c.71G>A (p.Arg24Gln) http://identifiers.org/clinvar/233081 ^@ NM_058216.2(RAD51C):c.667G>A (p.Val223Ile) http://identifiers.org/clinvar/230041 ^@ NM_032043.2(BRIP1):c.1858A>G (p.Met620Val) http://identifiers.org/clinvar/232380 ^@ NM_032043.2(BRIP1):c.362C>G (p.Thr121Ser) http://identifiers.org/clinvar/231980 ^@ NM_005359.5(SMAD4):c.1647A>G (p.Gln549=) http://identifiers.org/clinvar/234023 ^@ NM_007194.3(CHEK2):c.1375+1_1375+2delGT http://identifiers.org/clinvar/230091 ^@ NM_007194.3(CHEK2):c.132C>T (p.Ser44=) http://identifiers.org/clinvar/235048 ^@ NM_002880.3(RAF1):c.237T>G (p.His79Gln) http://identifiers.org/clinvar/234998 ^@ NM_000238.3(KCNH2):c.3365C>G (p.Pro1122Arg) http://identifiers.org/clinvar/235098 ^@ NM_001177800.1(ADIPOQ):c.-1095G>T http://identifiers.org/clinvar/235235 ^@ NM_001003800.1(BICD2):c.269A>G (p.Lys90Arg) http://identifiers.org/clinvar/235289 ^@ NM_024782.2(NHEJ1):c.170G>A (p.Arg57Gln) http://identifiers.org/clinvar/237113 ^@ NM_000143.3(FH):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/239559 ^@ NM_003738.4(PTCH2):c.3071C>T (p.Ala1024Val) http://identifiers.org/clinvar/237816 ^@ NM_000465.3(BARD1):c.1283_1285delGAG (p.Gly428del) http://identifiers.org/clinvar/239809 ^@ NM_004304.4(ALK):c.2613C>T (p.Asn871=) http://identifiers.org/clinvar/237415 ^@ NM_000251.2(MSH2):c.92C>G (p.Thr31Ser) http://identifiers.org/clinvar/237365 ^@ NM_000251.2(MSH2):c.1301C>T (p.Ala434Val) http://identifiers.org/clinvar/237215 ^@ NM_000179.2(MSH6):c.818G>T (p.Gly273Val) http://identifiers.org/clinvar/237164 ^@ NM_000179.2(MSH6):c.2788A>G (p.Lys930Glu) http://identifiers.org/clinvar/239509 ^@ NM_003124.4(SPR):c.112G>A (p.Val38Ile) http://identifiers.org/clinvar/238216 ^@ NM_001023570.3(IQCB1):c.394-15_394-10dupATCTTT http://identifiers.org/clinvar/237766 ^@ NM_000388.3(CASR):c.2948A>G (p.Gln983Arg) http://identifiers.org/clinvar/239406 ^@ NM_002880.3(RAF1):c.1431T>C (p.His477=) http://identifiers.org/clinvar/237315 ^@ NM_000249.3(MLH1):c.14C>T (p.Ala5Val) http://identifiers.org/clinvar/240059 ^@ NM_004656.3(BAP1):c.448C>T (p.Arg150Cys) http://identifiers.org/clinvar/240360 ^@ NM_006206.4(PDGFRA):c.738A>G (p.Gln246=) http://identifiers.org/clinvar/240310 ^@ NM_006206.4(PDGFRA):c.1494C>T (p.Ala498=) http://identifiers.org/clinvar/237265 ^@ NM_000222.2(KIT):c.251C>T (p.Thr84Met) http://identifiers.org/clinvar/240210 ^@ NM_005732.3(RAD50):c.1314A>T (p.Gly438=) http://identifiers.org/clinvar/239659 ^@ NM_004168.3(SDHA):c.1798C>T (p.Arg600Trp) http://identifiers.org/clinvar/240160 ^@ NM_005431.1(XRCC2):c.242T>C (p.Ile81Thr) http://identifiers.org/clinvar/238905 ^@ NM_001277115.1(DNAH11):c.3045G>T (p.Glu1015Asp) http://identifiers.org/clinvar/263108 ^@ NM_198253.2(TERT):c.2520G>A (p.Leu840=) http://identifiers.org/clinvar/258069 ^@ NM_001369.2(DNAH5):c.9374-22C>T http://identifiers.org/clinvar/258019 ^@ NM_001369.2(DNAH5):c.348C>T (p.Thr116=) http://identifiers.org/clinvar/263208 ^@ NM_199189.2(MATR3):c.1602+6A>G http://identifiers.org/clinvar/257969 ^@ NM_001369.2(DNAH5):c.-8C>T http://identifiers.org/clinvar/255130 ^@ NM_000112.3(SLC26A2):c.1194A>T (p.Val398=) http://identifiers.org/clinvar/263058 ^@ NM_182925.4(FLT4):c.400+17G>A http://identifiers.org/clinvar/257369 ^@ NM_001080479.2(ARHGEF28):c.3753C>T (p.Asp1251=) http://identifiers.org/clinvar/259108 ^@ NM_003630.2(PEX3):c.942-13A>G http://identifiers.org/clinvar/257569 ^@ NM_001145717.1(PNPLA1):c.1268C>A (p.Pro423His) http://identifiers.org/clinvar/262408 ^@ NM_138694.3(PKHD1):c.6211A>C (p.Asn2071His) http://identifiers.org/clinvar/259358 ^@ NM_004370.5(COL12A1):c.9172G>A (p.Gly3058Ser) http://identifiers.org/clinvar/259608 ^@ NM_005045.3(RELN):c.4589-28A>G http://identifiers.org/clinvar/257919 ^@ NM_001277115.1(DNAH11):c.6468+14T>C http://identifiers.org/clinvar/257869 ^@ NM_001277115.1(DNAH11):c.13163-19T>A http://identifiers.org/clinvar/257269 ^@ NM_001040167.1(LFNG):c.736-36C>T http://identifiers.org/clinvar/255430 ^@ NM_000168.5(GLI3):c.2373G>A (p.Pro791=) http://identifiers.org/clinvar/255480 ^@ NM_000181.3(GUSB):c.582-29C>G http://identifiers.org/clinvar/259258 ^@ NM_004260.3(RECQL4):c.1568G>C (p.Ser523Thr) http://identifiers.org/clinvar/254730 ^@ NM_000035.3(ALDOB):c.-211T>A http://identifiers.org/clinvar/255080 ^@ NM_000093.4(COL5A1):c.3528+43G>A http://identifiers.org/clinvar/262358 ^@ NM_133497.3(KCNV2):c.*6T>C http://identifiers.org/clinvar/255380 ^@ NM_000155.3(GALT):c.83-46G>C http://identifiers.org/clinvar/262858 ^@ NM_173551.4(ANKS6):c.908-16C>T http://identifiers.org/clinvar/258169 ^@ NM_001613.2(ACTA2):c.591G>A (p.Glu197=) http://identifiers.org/clinvar/259408 ^@ NM_004523.3(KIF11):c.1702+9A>T http://identifiers.org/clinvar/259458 ^@ NM_004621.5(TRPC6):c.2115C>T (p.Tyr705=) http://identifiers.org/clinvar/263258 ^@ NM_199292.2(TH):c.813G>A (p.Lys271=) http://identifiers.org/clinvar/263308 ^@ NM_213599.2(ANO5):c.1120-24A>T http://identifiers.org/clinvar/254880 ^@ NM_000076.2(CDKN1C):c.-85G>A http://identifiers.org/clinvar/257619 ^@ NM_001198552.1(WT1):c.-8_-7delGC http://identifiers.org/clinvar/258219 ^@ NM_001844.4(COL2A1):c.1888-47T>C http://identifiers.org/clinvar/259058 ^@ NM_003482.3(KMT2D):c.4089C>T (p.Thr1363=) http://identifiers.org/clinvar/256669 ^@ NM_000552.4(VWF):c.3485C>T (p.Pro1162Leu) http://identifiers.org/clinvar/255630 ^@ NM_000257.3(MYH7):c.3973-30A>G http://identifiers.org/clinvar/257119 ^@ NM_001024858.2(SPTB):c.4482G>A (p.Val1494=) http://identifiers.org/clinvar/336305 ^@ NM_001430.4(EPAS1):c.*1040_*1041insG http://identifiers.org/clinvar/336512 ^@ NM_001135659.2(NRXN1):c.*2286C>A http://identifiers.org/clinvar/336712 ^@ NM_032180.2(FAM161A):c.*1349A>G http://identifiers.org/clinvar/336005 ^@ NM_005633.3(SOS1):c.*758A>T http://identifiers.org/clinvar/336862 ^@ NM_002056.3(GFPT1):c.*603G>A http://identifiers.org/clinvar/337012 ^@ NM_015120.4(ALMS1):c.2119A>G (p.Thr707Ala) http://identifiers.org/clinvar/337112 ^@ NM_006302.2(MOGS):c.342C>A (p.Pro114=) http://identifiers.org/clinvar/334266 ^@ NM_173076.2(ABCA12):c.1427C>T (p.Ala476Val) http://identifiers.org/clinvar/334316 ^@ NM_015488.4(PNKD):c.466-11C>T http://identifiers.org/clinvar/334115 ^@ NM_000384.2(APOB):c.9202A>G (p.Ile3068Val) http://identifiers.org/clinvar/336612 ^@ NM_001039348.2(EFEMP1):c.*695T>C http://identifiers.org/clinvar/336662 ^@ NM_002618.3(PEX13):c.32C>T (p.Pro11Leu) http://identifiers.org/clinvar/334466 ^@ NM_015311.2(OBSL1):c.4836A>G (p.Thr1612=) http://identifiers.org/clinvar/336762 ^@ NM_015910.5(WDPCP):c.1923G>A (p.Leu641=) http://identifiers.org/clinvar/336912 ^@ NM_001004311.3(FIGLA):c.234A>T (p.Ile78=) http://identifiers.org/clinvar/342342 ^@ NM_016247.3(IMPG2):c.2802+8T>C http://identifiers.org/clinvar/337062 ^@ NM_004082.4(DCTN1):c.*167C>T http://identifiers.org/clinvar/337212 ^@ NM_000821.6(GGCX):c.*2892_*2894delACA http://identifiers.org/clinvar/337312 ^@ NM_198843.2(SFTPB):c.77T>C (p.Leu26Pro) http://identifiers.org/clinvar/334966 ^@ NM_000751.2(CHRND):c.525G>A (p.Thr175=) http://identifiers.org/clinvar/337412 ^@ NM_004836.6(EIF2AK3):c.1697A>T (p.Asp566Val) http://identifiers.org/clinvar/335955 ^@ NM_000104.3(CYP1B1):c.8C>A (p.Thr3Asn) http://identifiers.org/clinvar/350671 ^@ NM_032446.2(MEGF10):c.*4C>G http://identifiers.org/clinvar/350571 ^@ NM_001182.4(ALDH7A1):c.*807C>G http://identifiers.org/clinvar/357547 ^@ NM_001723.5(DST):c.7495C>T (p.Arg2499Trp) http://identifiers.org/clinvar/357597 ^@ NM_001723.5(DST):c.2779C>T (p.Arg927Trp) http://identifiers.org/clinvar/354747 ^@ NM_020381.3(PDSS2):c.*1686G>C http://identifiers.org/clinvar/350721 ^@ NM_032446.2(MEGF10):c.*3769C>T http://identifiers.org/clinvar/357697 ^@ NM_001142800.1(EYS):c.6899G>T (p.Gly2300Val) http://identifiers.org/clinvar/350771 ^@ NM_001999.3(FBN2):c.5280G>T (p.Arg1760Ser) http://identifiers.org/clinvar/357847 ^@ NM_014989.5(RIMS1):c.2670T>C (p.His890=) http://identifiers.org/clinvar/354897 ^@ NM_007214.4(SEC63):c.1936-7_1936-5dupTTT http://identifiers.org/clinvar/354997 ^@ NM_004752.3(GCM2):c.*649T>C http://identifiers.org/clinvar/358097 ^@ NM_181714.3(LCA5):c.1138G>A (p.Gly380Arg) http://identifiers.org/clinvar/355047 ^@ NM_014845.5(FIG4):c.2547-5T>G http://identifiers.org/clinvar/358247 ^@ NM_014165.3(NDUFAF4):c.*1481T>C http://identifiers.org/clinvar/358347 ^@ NM_198999.2(SLC26A5):c.1699A>G (p.Ile567Val) http://identifiers.org/clinvar/358647 ^@ NM_014491.3(FOXP2):c.*2017G>A http://identifiers.org/clinvar/358697 ^@ NM_001127500.2(MET):c.*87G>A http://identifiers.org/clinvar/358747 ^@ NM_000492.3(CFTR):c.*1249T>C http://identifiers.org/clinvar/351560 ^@ NM_054027.4(ANKH):c.288C>T (p.Ile96=) http://identifiers.org/clinvar/351910 ^@ NM_024577.3(SH3TC2):c.1831C>A (p.His611Asn) http://identifiers.org/clinvar/351710 ^@ NM_024577.3(SH3TC2):c.*10485G>A http://identifiers.org/clinvar/352108 ^@ NM_005211.3(CSF1R):c.*500C>T http://identifiers.org/clinvar/351960 ^@ NM_000440.2(PDE6A):c.*1515G>A http://identifiers.org/clinvar/352010 ^@ NM_000440.2(PDE6A):c.-57C>T http://identifiers.org/clinvar/359636 ^@ NM_001277115.1(DNAH11):c.5519C>T (p.Thr1840Ile) http://identifiers.org/clinvar/352058 ^@ NM_000112.3(SLC26A2):c.*2226C>T http://identifiers.org/clinvar/352258 ^@ NM_000405.4(GM2A):c.*226C>T http://identifiers.org/clinvar/359686 ^@ NM_001277115.1(DNAH11):c.12375G>C (p.Glu4125Asp) http://identifiers.org/clinvar/359786 ^@ NM_032581.3(FAM126A):c.-111G>A http://identifiers.org/clinvar/352558 ^@ NM_002187.2(IL12B):c.*901dupA http://identifiers.org/clinvar/352308 ^@ NM_000171.3(GLRA1):c.1181C>T (p.Pro394Leu) http://identifiers.org/clinvar/352608 ^@ NM_000806.5(GABRA1):c.*470A>G http://identifiers.org/clinvar/360136 ^@ NM_133468.4(BMPER):c.*1071A>G http://identifiers.org/clinvar/360236 ^@ NM_000168.5(GLI3):c.2635G>A (p.Ala879Thr) http://identifiers.org/clinvar/352658 ^@ NM_000816.3(GABRG2):c.*797G>T http://identifiers.org/clinvar/360386 ^@ NM_014855.2(AP5Z1):c.*1586C>T http://identifiers.org/clinvar/360636 ^@ NM_000501.3(ELN):c.328G>A (p.Ala110Thr) http://identifiers.org/clinvar/353108 ^@ NM_014244.4(ADAMTS2):c.2290+15C>T http://identifiers.org/clinvar/353008 ^@ NM_006261.4(PROP1):c.*419C>T http://identifiers.org/clinvar/353058 ^@ NM_014244.4(ADAMTS2):c.*1747A>C http://identifiers.org/clinvar/360886 ^@ NM_194456.1(KRIT1):c.1139C>T (p.Thr380Met) http://identifiers.org/clinvar/357647 ^@ NM_183227.2(RAB23):c.-49C>T http://identifiers.org/clinvar/306521 ^@ NM_016156.5(MTMR2):c.*1066T>C http://identifiers.org/clinvar/306621 ^@ NM_139319.2(SLC17A8):c.-32T>G http://identifiers.org/clinvar/364524 ^@ NM_001079802.1(FKTN):c.*5041G>A http://identifiers.org/clinvar/300427 ^@ NM_022124.5(CDH23):c.3915C>T (p.Asn1305=) http://identifiers.org/clinvar/364374 ^@ NM_005502.3(ABCA1):c.*96T>C http://identifiers.org/clinvar/300477 ^@ NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp) http://identifiers.org/clinvar/364574 ^@ NM_003640.4(IKBKAP):c.1614G>C (p.Met538Ile) http://identifiers.org/clinvar/364674 ^@ NM_015404.3(WHRN):c.*188A>T http://identifiers.org/clinvar/364724 ^@ NM_012210.3(TRIM32):c.*152T>G http://identifiers.org/clinvar/364774 ^@ NM_018249.5(CDK5RAP2):c.1657C>A (p.Leu553Met) http://identifiers.org/clinvar/364824 ^@ NM_000177.4(GSN):c.1847C>T (p.Thr616Met) http://identifiers.org/clinvar/301027 ^@ NM_007055.3(POLR3A):c.*345A>C http://identifiers.org/clinvar/365024 ^@ NM_138361.5(LRSAM1):c.1044-9T>C http://identifiers.org/clinvar/301077 ^@ NM_007055.3(POLR3A):c.741G>A (p.Pro247=) http://identifiers.org/clinvar/365124 ^@ NM_003863.3(DPM2):c.-612G>C http://identifiers.org/clinvar/364974 ^@ NM_002316.3(LMX1B):c.*3522G>A http://identifiers.org/clinvar/365224 ^@ NM_000113.2(TOR1A):c.*414delG http://identifiers.org/clinvar/365274 ^@ NM_007171.3(POMT1):c.36G>A (p.Thr12=) http://identifiers.org/clinvar/365424 ^@ NM_000368.4(TSC1):c.*3248_*3250delCAG http://identifiers.org/clinvar/301327 ^@ NM_001012720.1(RGR):c.*416A>G http://identifiers.org/clinvar/365174 ^@ NM_001130438.2(SPTAN1):c.6078T>C (p.Phe2026=) http://identifiers.org/clinvar/365324 ^@ NM_015046.5(SETX):c.*891T>C http://identifiers.org/clinvar/365374 ^@ NM_015046.5(SETX):c.710A>G (p.Tyr237Cys) http://identifiers.org/clinvar/365524 ^@ NM_000368.4(TSC1):c.-214C>T http://identifiers.org/clinvar/365574 ^@ NM_014694.3(ADAMTSL2):c.310-9G>A http://identifiers.org/clinvar/365674 ^@ NM_000787.3(DBH):c.1788C>T (p.Cys596=) http://identifiers.org/clinvar/298438 ^@ NM_000392.4(ABCC2):c.33+13A>G http://identifiers.org/clinvar/301877 ^@ NM_004621.5(TRPC6):c.*1176T>C http://identifiers.org/clinvar/365724 ^@ NM_000093.4(COL5A1):c.3906+15G>C http://identifiers.org/clinvar/301927 ^@ NM_004621.5(TRPC6):c.-406C>A http://identifiers.org/clinvar/302077 ^@ NM_001080463.1(DYNC2H1):c.9122G>A (p.Arg3041Lys) http://identifiers.org/clinvar/309770 ^@ NM_001173467.2(SP7):c.-47-15C>A http://identifiers.org/clinvar/302227 ^@ NM_000019.3(ACAT1):c.*555A>G http://identifiers.org/clinvar/309820 ^@ NM_000456.2(SUOX):c.-326A>T http://identifiers.org/clinvar/309870 ^@ NM_012064.3(MIP):c.*762_*763delTT http://identifiers.org/clinvar/309920 ^@ NM_005379.3(MYO1A):c.478-17_478-16delCT http://identifiers.org/clinvar/310070 ^@ NM_000552.4(VWF):c.3538+6G>T http://identifiers.org/clinvar/310120 ^@ NM_001038.5(SCNN1A):c.*850C>T http://identifiers.org/clinvar/310370 ^@ NM_000365.5(TPI1):c.*341C>T http://identifiers.org/clinvar/310420 ^@ NM_001131025.1(PEX5):c.552-7G>A http://identifiers.org/clinvar/310520 ^@ NM_018979.3(WNK1):c.-368G>T http://identifiers.org/clinvar/310570 ^@ NM_020661.3(AICDA):c.*556T>G http://identifiers.org/clinvar/310825 ^@ NM_018979.3(WNK1):c.3899C>T (p.Ser1300Phe) http://identifiers.org/clinvar/310725 ^@ NM_002108.3(HAL):c.276C>T (p.Asp92=) http://identifiers.org/clinvar/302916 ^@ NM_005188.3(CBL):c.*8149A>G http://identifiers.org/clinvar/310775 ^@ NM_003276.2(TMPO):c.*42delA http://identifiers.org/clinvar/310925 ^@ NM_000123.3(ERCC5):c.1917A>G (p.Glu639=) http://identifiers.org/clinvar/302966 ^@ NG_012235.1:g.6909A>C http://identifiers.org/clinvar/303016 ^@ NM_005422.2(TECTA):c.3556C>T (p.Arg1186Trp) http://identifiers.org/clinvar/314303 ^@ NM_000428.2(LTBP2):c.2041G>A (p.Gly681Ser) http://identifiers.org/clinvar/314353 ^@ NM_001040108.1(MLH3):c.*2086C>T http://identifiers.org/clinvar/314403 ^@ NM_017791.2(FLVCR2):c.-356G>C http://identifiers.org/clinvar/314503 ^@ NM_004452.3(ESRRB):c.*801_*803delATG http://identifiers.org/clinvar/312914 ^@ NM_000257.3(MYH7):c.1139-4C>T http://identifiers.org/clinvar/313064 ^@ NM_025152.2(NUBPL):c.*1451C>T http://identifiers.org/clinvar/314803 ^@ NM_198309.3(TTC8):c.1387A>G (p.Thr463Ala) http://identifiers.org/clinvar/341042 ^@ NM_001887.3(CRYBB1):c.744A>G (p.Thr248=) http://identifiers.org/clinvar/314853 ^@ NM_018319.3(TDP1):c.*1015G>A http://identifiers.org/clinvar/313114 ^@ NM_020529.2(NFKBIA):c.379G>A (p.Ala127Thr) http://identifiers.org/clinvar/322538 ^@ NM_001045.5(SLC6A4):c.303T>C (p.Asn101=) http://identifiers.org/clinvar/322588 ^@ NM_000267.3(NF1):c.*1164G>A http://identifiers.org/clinvar/322688 ^@ NM_145068.3(TRPV3):c.*2671C>T http://identifiers.org/clinvar/341392 ^@ NM_000362.4(TIMP3):c.*2651T>C http://identifiers.org/clinvar/322788 ^@ NM_145068.3(TRPV3):c.558A>C (p.Ile186=) http://identifiers.org/clinvar/341492 ^@ NM_002473.5(MYH9):c.5717C>T (p.Thr1906Met) http://identifiers.org/clinvar/341692 ^@ NM_022098.3(XPNPEP3):c.*1222dupG http://identifiers.org/clinvar/341792 ^@ NM_001429.3(EP300):c.2174T>C (p.Ile725Thr) http://identifiers.org/clinvar/323088 ^@ NM_002274.3(KRT13):c.767G>A (p.Gly256Asp) http://identifiers.org/clinvar/315503 ^@ NM_002420.5(TRPM1):c.3186C>T (p.Val1062=) http://identifiers.org/clinvar/341942 ^@ NM_025225.2(PNPLA3):c.1209C>T (p.Pro403=) http://identifiers.org/clinvar/323238 ^@ NM_139276.2(STAT3):c.*264dupG http://identifiers.org/clinvar/341992 ^@ NM_018006.4(TRMU):c.-279G>A http://identifiers.org/clinvar/315603 ^@ NM_133647.1(SLC12A6):c.*691C>T http://identifiers.org/clinvar/315653 ^@ NM_005159.4(ACTC1):c.*1682A>G http://identifiers.org/clinvar/323438 ^@ NM_025237.2(SOST):c.461C>T (p.Pro154Leu) http://identifiers.org/clinvar/323488 ^@ NM_000342.3(SLC4A1):c.*1103delA http://identifiers.org/clinvar/323638 ^@ NM_005910.5(MAPT):c.-141G>A http://identifiers.org/clinvar/323738 ^@ NM_001193466.1(KANSL1):c.*1328delA http://identifiers.org/clinvar/315953 ^@ NM_138477.2(CDAN1):c.256C>T (p.Pro86Ser) http://identifiers.org/clinvar/314453 ^@ NM_003239.4(TGFB3):c.339G>A (p.Gly113=) http://identifiers.org/clinvar/314653 ^@ NM_004863.3(SPTLC2):c.*695T>A http://identifiers.org/clinvar/316992 ^@ NM_017882.2(CLN6):c.*69G>T http://identifiers.org/clinvar/314903 ^@ NM_004239.4(TRIP11):c.*930C>T http://identifiers.org/clinvar/317092 ^@ NM_022369.3(STRA6):c.*32G>T http://identifiers.org/clinvar/314953 ^@ NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) http://identifiers.org/clinvar/317192 ^@ NM_003978.4(PSTPIP1):c.*93C>T http://identifiers.org/clinvar/315053 ^@ NM_177438.2(DICER1):c.*3312G>T http://identifiers.org/clinvar/317342 ^@ NM_198525.2(KIF7):c.*344T>C http://identifiers.org/clinvar/315403 ^@ NM_144599.4(NIPA1):c.*1190_*1191delAT http://identifiers.org/clinvar/317393 ^@ NM_001039958.1(MESP2):c.717G>C (p.Gly239=) http://identifiers.org/clinvar/315453 ^@ NM_022807.4(SNRPN):c.421-5C>T http://identifiers.org/clinvar/315553 ^@ NM_133647.1(SLC12A6):c.*3309delT http://identifiers.org/clinvar/315153 ^@ NM_139057.3(ADAMTS17):c.*2291G>A http://identifiers.org/clinvar/325386 ^@ NM_004035.6(ACOX1):c.667G>A (p.Val223Ile) http://identifiers.org/clinvar/325436 ^@ NM_024599.5(RHBDF2):c.1582G>T (p.Asp528Tyr) http://identifiers.org/clinvar/317743 ^@ NM_000246.3(CIITA):c.*644C>G http://identifiers.org/clinvar/317893 ^@ NM_032520.4(GNPTG):c.798C>T (p.His266=) http://identifiers.org/clinvar/325586 ^@ NM_006640.4(SEPT9):c.*377T>G http://identifiers.org/clinvar/325736 ^@ NM_017950.3(CCDC40):c.1896C>T (p.Ile632=) http://identifiers.org/clinvar/317993 ^@ NM_014714.3(IFT140):c.3990G>A (p.Ala1330=) http://identifiers.org/clinvar/371858 ^@ NM_001127511.2(APC):c.6742_6756delACAGCCACCACTTCT (p.Thr2248_Ser2252del) http://identifiers.org/clinvar/371958 ^@ NM_000535.6(PMS2):c.803+23A>T http://identifiers.org/clinvar/372008 ^@ NM_000546.5(TP53):c.993+227A>C http://identifiers.org/clinvar/372058 ^@ NM_000546.5(TP53):c.375+17G>A http://identifiers.org/clinvar/372108 ^@ NM_006412.3(AGPAT2):c.514G>A (p.Glu172Lys) http://identifiers.org/clinvar/372171 ^@ NM_016519.5(AMBN):c.532-1G>C http://identifiers.org/clinvar/372238 ^@ NM_138773.3(SLC25A46):c.746G>A (p.Gly249Asp) http://identifiers.org/clinvar/373603 ^@ NM_000302.3(PLOD1):c.2162C>T (p.Ala721Val) http://identifiers.org/clinvar/372655 ^@ NM_020247.4(COQ8A):c.895C>T (p.Arg299Trp) http://identifiers.org/clinvar/372291 ^@ NM_000350.2(ABCA4):c.3403C>T (p.Gln1135Ter) http://identifiers.org/clinvar/373703 ^@ NM_001167734.1(VARS2):c.2318G>A (p.Arg773Gln) http://identifiers.org/clinvar/373653 ^@ NM_020320.4(RARS2):c.1305+20T>C http://identifiers.org/clinvar/372758 ^@ NM_005188.3(CBL):c.1096-7A>G http://identifiers.org/clinvar/372604 ^@ NM_000257.3(MYH7):c.3991C>G (p.His1331Asp) http://identifiers.org/clinvar/372708 ^@ NM_001009944.2(PKD1):c.1259A>G (p.Tyr420Cys) http://identifiers.org/clinvar/373803 ^@ NM_014646.2(LPIN2):c.1720T>A (p.Ser574Thr) http://identifiers.org/clinvar/373753 ^@ NM_172107.3(KCNQ2):c.12G>C (p.Lys4Asn) http://identifiers.org/clinvar/373853 ^@ NG_005905.2:g.137094_142043del http://identifiers.org/clinvar/373956 ^@ NM_000309.3(PPOX):c.1281G>A (p.Trp427Ter) http://identifiers.org/clinvar/373906 ^@ NM_001281723.2(BTD):c.106_107delGG (p.Gly36Leufs) http://identifiers.org/clinvar/374106 ^@ NM_000218.2(KCNQ1):c.1349A>G (p.Glu450Gly) http://identifiers.org/clinvar/374156 ^@ NM_001376.4(DYNC1H1):c.829T>G (p.Phe277Val) http://identifiers.org/clinvar/374206 ^@ NM_000296.3(PKD1):c.3785A>G (p.His1262Arg) http://identifiers.org/clinvar/374056 ^@ NM_001166111.1(PNPLA6):c.3332G>A (p.Arg1111His) http://identifiers.org/clinvar/374006 ^@ NM_001098.2(ACO2):c.1397A>C (p.Asn466Thr) http://identifiers.org/clinvar/374395 ^@ NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter) http://identifiers.org/clinvar/374260 ^@ NM_022042.3(SLC26A1):c.1487T>G (p.Leu496Arg) http://identifiers.org/clinvar/374330 ^@ NM_000284.3(PDHA1):c.292-23A>G http://identifiers.org/clinvar/374448 ^@ NM_001184889.1(NIPA2):c.731A>G (p.Asn244Ser) http://identifiers.org/clinvar/374498 ^@ NM_198271.4(LMOD3):c.1648C>T (p.Leu550Phe) http://identifiers.org/clinvar/374548 ^@ NM_024408.3(NOTCH2):c.6837T>C (p.His2279=) http://identifiers.org/clinvar/374598 ^@ NM_025114.3(CEP290):c.6516delA (p.Lys2172Asnfs) http://identifiers.org/clinvar/374648 ^@ NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) http://identifiers.org/clinvar/374698 ^@ NM_001931.4(DLAT):c.1035A>G (p.Pro345=) http://identifiers.org/clinvar/374748 ^@ NM_000271.4(NPC1):c.57+4A>G http://identifiers.org/clinvar/374808 ^@ NM_000141.4(FGFR2):c.138A>C (p.Gln46His) http://identifiers.org/clinvar/374858 ^@ NM_005477.2(HCN4):c.1920_1932dupCAGCGTGCTCACC (p.Lys645Glnfs) http://identifiers.org/clinvar/374917 ^@ NM_001128608.1(MAPKBP1):c.1318C>T (p.Arg440Ter) http://identifiers.org/clinvar/386904 ^@ NM_000251.2(MSH2):c.1661+10T>C http://identifiers.org/clinvar/379356 ^@ NM_001135659.2(NRXN1):c.108C>T (p.Ala36=) http://identifiers.org/clinvar/383503 ^@ NM_005051.2(QARS):c.93G>A (p.Ala31=) http://identifiers.org/clinvar/388443 ^@ NM_024582.4(FAT4):c.2811G>T (p.Lys937Asn) http://identifiers.org/clinvar/386554 ^@ NM_005051.2(QARS):c.1650A>G (p.Pro550=) http://identifiers.org/clinvar/392821 ^@ NM_005429.4(VEGFC):c.375G>C (p.Glu125Asp) http://identifiers.org/clinvar/390882 ^@ NM_000551.3(VHL):c.522T>C (p.Asn174=) http://identifiers.org/clinvar/390832 ^@ NM_000426.3(LAMA2):c.9039T>C (p.Asp3013=) http://identifiers.org/clinvar/377907 ^@ NM_000816.3(GABRG2):c.1230C>T (p.Asp410=) http://identifiers.org/clinvar/391682 ^@ NM_015340.3(LARS2):c.235-19C>A http://identifiers.org/clinvar/377807 ^@ NM_004415.3(DSP):c.729C>T (p.Arg243=) http://identifiers.org/clinvar/377957 ^@ NM_000238.3(KCNH2):c.2376C>T (p.Gly792=) http://identifiers.org/clinvar/391382 ^@ NM_006005.3(WFS1):c.2565A>T (p.Ser855=) http://identifiers.org/clinvar/379907 ^@ NM_006096.3(NDRG1):c.789G>A (p.Ser263=) http://identifiers.org/clinvar/389693 ^@ NM_001458.4(FLNC):c.7991-19C>T http://identifiers.org/clinvar/379756 ^@ NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His) http://identifiers.org/clinvar/389243 ^@ NM_000535.6(PMS2):c.528T>C (p.Asn176=) http://identifiers.org/clinvar/377707 ^@ NM_014141.5(CNTNAP2):c.1083+16C>T http://identifiers.org/clinvar/379156 ^@ NM_000535.6(PMS2):c.353+7C>A http://identifiers.org/clinvar/387104 ^@ NM_000368.4(TSC1):c.737+13G>A http://identifiers.org/clinvar/379506 ^@ NM_003172.3(SURF1):c.240+1G>T http://identifiers.org/clinvar/388143 ^@ NM_000035.3(ALDOB):c.325-19T>G http://identifiers.org/clinvar/386854 ^@ NM_020822.2(KCNT1):c.2350-17C>G http://identifiers.org/clinvar/388293 ^@ NM_017617.4(NOTCH1):c.3511-10G>A http://identifiers.org/clinvar/384004 ^@ NM_033071.3(SYNE1):c.8556T>G (p.Tyr2852Ter) http://identifiers.org/clinvar/390782 ^@ NM_004408.3(DNM1):c.1893+16A>C http://identifiers.org/clinvar/391882 ^@ NM_080680.2(COL11A2):c.5160C>G (p.Ala1720=) http://identifiers.org/clinvar/388943 ^@ NM_001003800.1(BICD2):c.2340G>A (p.Ser780=) http://identifiers.org/clinvar/391082 ^@ NM_021830.4(TWNK):c.1338C>T (p.Ile446=) http://identifiers.org/clinvar/391632 ^@ NM_020822.2(KCNT1):c.1296C>G (p.Leu432=) http://identifiers.org/clinvar/388593 ^@ NM_020822.2(KCNT1):c.1443C>T (p.Phe481=) http://identifiers.org/clinvar/133146 ^@ NM_000540.2(RYR1):c.51_53delTGA (p.Asp17del) http://identifiers.org/clinvar/133196 ^@ NM_000540.2(RYR1):c.7304G>T (p.Arg2435Leu) http://identifiers.org/clinvar/133246 ^@ NM_001199107.1(TBC1D24):c.533C>T (p.Ser178Leu) http://identifiers.org/clinvar/133326 ^@ NM_001029882.3(AHDC1):c.2373_2374delTG (p.Cys791Trpfs) http://identifiers.org/clinvar/133388 ^@ NM_003073.4(SMARCB1):c.500+65G>A http://identifiers.org/clinvar/133438 ^@ NM_007313.2(ABL1):c.2407C>G (p.Pro803Ala) http://identifiers.org/clinvar/133488 ^@ NM_152424.3(AMER1):c.1811A>G (p.Tyr604Cys) http://identifiers.org/clinvar/133539 ^@ NM_000038.5(APC):c.385G>C (p.Glu129Gln) http://identifiers.org/clinvar/133589 ^@ NM_015338.5(ASXL1):c.3973C>T (p.Leu1325Phe) http://identifiers.org/clinvar/133639 ^@ NM_000051.3(ATM):c.649A>G (p.Ile217Val) http://identifiers.org/clinvar/133689 ^@ NM_001123383.1(BCOR):c.365T>C (p.Met122Thr) http://identifiers.org/clinvar/133741 ^@ NM_000059.3(BRCA2):c.193C>T (p.Pro65Ser) http://identifiers.org/clinvar/133793 ^@ NM_032415.5(CARD11):c.1975G>A (p.Val659Met) http://identifiers.org/clinvar/133843 ^@ NM_024529.4(CDC73):c.588_590delTATinsGAA (p.Ile197Asn) http://identifiers.org/clinvar/133893 ^@ NM_015125.4(CIC):c.1694_1695delGCinsAA (p.Gly565Glu) http://identifiers.org/clinvar/133943 ^@ NM_004380.2(CREBBP):c.1446G>T (p.Gln482His) http://identifiers.org/clinvar/133993 ^@ NM_001077706.2(ECT2L):c.1739A>G (p.Lys580Arg) http://identifiers.org/clinvar/134043 ^@ NM_001429.3(EP300):c.631G>A (p.Gly211Ser) http://identifiers.org/clinvar/134095 ^@ NM_000400.3(ERCC2):c.1703_1704delTT (p.Phe568Tyrfs) http://identifiers.org/clinvar/134145 ^@ NM_005236.2(ERCC4):c.211T>C (p.Tyr71His) http://identifiers.org/clinvar/134195 ^@ NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) http://identifiers.org/clinvar/134245 ^@ NM_000135.2(FANCA):c.1625A>T (p.Glu542Val) http://identifiers.org/clinvar/134296 ^@ NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) http://identifiers.org/clinvar/134347 ^@ NM_022725.3(FANCF):c.256C>T (p.Leu86Phe) http://identifiers.org/clinvar/134397 ^@ NM_000142.4(FGFR3):c.130G>A (p.Gly44Ser) http://identifiers.org/clinvar/134447 ^@ NM_004119.2(FLT3):c.680C>T (p.Thr227Met) http://identifiers.org/clinvar/134497 ^@ NM_080425.3(GNAS):c.181G>A (p.Val61Ile) http://identifiers.org/clinvar/134547 ^@ NM_002227.3(JAK1):c.3463T>C (p.Ter1155Gln) http://identifiers.org/clinvar/135094 ^@ NM_000264.3(PTCH1):c.104G>A (p.Arg35Gln) http://identifiers.org/clinvar/135145 ^@ NM_004260.3(RECQL4):c.3184C>T (p.Arg1062Trp) http://identifiers.org/clinvar/136177 ^@ NM_133647.1(SLC12A6):c.1478_1485delTTCCCTCT (p.Phe493Cysfs) http://identifiers.org/clinvar/136237 ^@ NM_000350.2(ABCA4):c.570+20C>T http://identifiers.org/clinvar/136288 ^@ NM_001103.3(ACTN2):c.1975-12C>T http://identifiers.org/clinvar/136339 ^@ NM_005751.4(AKAP9):c.7638A>G (p.Ile2546Met) http://identifiers.org/clinvar/136390 ^@ NM_001148.4(ANK2):c.3579C>T (p.Arg1193=) http://identifiers.org/clinvar/186680 ^@ NM_002878.3(RAD51D):c.94_95delGT (p.Val32Phefs) http://identifiers.org/clinvar/184039 ^@ NM_007294.3(BRCA1):c.3358G>A (p.Val1120Ile) http://identifiers.org/clinvar/186730 ^@ NM_007294.3(BRCA1):c.2410C>G (p.Gln804Glu) http://identifiers.org/clinvar/187080 ^@ NM_007294.3(BRCA1):c.1966A>G (p.Asn656Asp) http://identifiers.org/clinvar/184539 ^@ NM_007294.3(BRCA1):c.1797T>C (p.Asn599=) http://identifiers.org/clinvar/184589 ^@ NM_058216.2(RAD51C):c.783A>G (p.Leu261=) http://identifiers.org/clinvar/187480 ^@ NM_058216.2(RAD51C):c.932T>C (p.Ile311Thr) http://identifiers.org/clinvar/187180 ^@ NM_000546.5(TP53):c.1002G>A (p.Gly334=) http://identifiers.org/clinvar/185778 ^@ NM_000546.5(TP53):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/184839 ^@ NM_000546.5(TP53):c.141G>A (p.Pro47=) http://identifiers.org/clinvar/187230 ^@ NM_000455.4(STK11):c.537G>A (p.Pro179=) http://identifiers.org/clinvar/188257 ^@ NM_001127500.2(MET):c.818C>G (p.Thr273Ser) http://identifiers.org/clinvar/188364 ^@ NM_001127500.2(MET):c.1132G>A (p.Val378Ile) http://identifiers.org/clinvar/188310 ^@ NM_139241.3(FGD4):c.667A>C (p.Asn223His) http://identifiers.org/clinvar/188472 ^@ NM_004415.3(DSP):c.6799A>T (p.Thr2267Ser) http://identifiers.org/clinvar/188572 ^@ NM_000256.3(MYBPC3):c.2846dupT (p.Met949Ilefs) http://identifiers.org/clinvar/188522 ^@ NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/188422 ^@ NM_000059.3(BRCA2):c.317-29A>T http://identifiers.org/clinvar/188622 ^@ NM_000257.3(MYH7):c.3245+24C>T http://identifiers.org/clinvar/188672 ^@ NM_000363.4(TNNI3):c.339C>T (p.Asp113=) http://identifiers.org/clinvar/188772 ^@ NM_000441.1(SLC26A4):c.165-2A>G http://identifiers.org/clinvar/188873 ^@ NM_000466.2(PEX1):c.2383C>T (p.Arg795Ter) http://identifiers.org/clinvar/188822 ^@ NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) http://identifiers.org/clinvar/188923 ^@ NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) http://identifiers.org/clinvar/188973 ^@ NM_004004.5(GJB2):c.598G>T (p.Gly200Ter) http://identifiers.org/clinvar/188722 ^@ NM_000053.3(ATP7B):c.3053C>T (p.Ala1018Val) http://identifiers.org/clinvar/189024 ^@ NM_000153.3(GALC):c.658C>T (p.Arg220Ter) http://identifiers.org/clinvar/189124 ^@ NM_000152.4(GAA):c.1556T>C (p.Met519Thr) http://identifiers.org/clinvar/189174 ^@ NM_000271.4(NPC1):c.3557G>A (p.Arg1186His) http://identifiers.org/clinvar/189074 ^@ NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) http://identifiers.org/clinvar/189241 ^@ NM_000309.3(PPOX):c.199delC (p.Leu67Terfs) http://identifiers.org/clinvar/189293 ^@ NM_000894.2(LHB):c.183+1G>T http://identifiers.org/clinvar/189354 ^@ NM_003468.3(FZD5):c.267G>A (p.Met89Ile) http://identifiers.org/clinvar/189442 ^@ NM_000314.6(PTEN):c.85_88delTATC (p.Tyr29Glnfs) http://identifiers.org/clinvar/189510 ^@ NM_000314.6(PTEN):c.1018A>C (p.Asn340His) http://identifiers.org/clinvar/189614 ^@ NM_005249.4(FOXG1):c.505_506delGGinsT (p.Gly169Serfs) http://identifiers.org/clinvar/189564 ^@ NM_003159.2(CDKL5):c.-162-?_99+?del http://identifiers.org/clinvar/189664 ^@ NM_004992.3(MECP2):c.1163_*39del338 http://identifiers.org/clinvar/189714 ^@ NM_004992.3(MECP2):c.689_756del68 (p.Pro230Glnfs) http://identifiers.org/clinvar/189764 ^@ NM_001110792.1(MECP2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/190367 ^@ NM_001131019.2(GFAP):c.1289G>A (p.Arg430His) http://identifiers.org/clinvar/227158 ^@ NM_005691.3(ABCC9):c.2547T>C (p.His849=) http://identifiers.org/clinvar/226507 ^@ NM_001039213.3(CEACAM16):c.43T>C (p.Phe15Leu) http://identifiers.org/clinvar/226457 ^@ NM_001614.3(ACTG1):c.-6-3C>T http://identifiers.org/clinvar/234908 ^@ NM_000530.7(MPZ):c.149G>T (p.Cys50Phe) http://identifiers.org/clinvar/234557 ^@ NM_000179.2(MSH6):c.898C>T (p.Arg300Trp) http://identifiers.org/clinvar/234455 ^@ NM_000179.2(MSH6):c.2673C>G (p.Ile891Met) http://identifiers.org/clinvar/234858 ^@ NM_004656.3(BAP1):c.783+4_783+13delGGTGCCCTTT http://identifiers.org/clinvar/234394 ^@ NM_000535.6(PMS2):c.1688_1689delGA (p.Val564Phefs) http://identifiers.org/clinvar/234807 ^@ NM_000136.2(FANCC):c.1144C>G (p.Gln382Glu) http://identifiers.org/clinvar/234506 ^@ NM_000059.3(BRCA2):c.5134G>T (p.Gly1712Ter) http://identifiers.org/clinvar/234757 ^@ NM_000059.3(BRCA2):c.6125A>T (p.Gln2042Leu) http://identifiers.org/clinvar/234707 ^@ NM_000257.3(MYH7):c.635G>A (p.Gly212Asp) http://identifiers.org/clinvar/234283 ^@ NM_004360.4(CDH1):c.562G>A (p.Val188Ile) http://identifiers.org/clinvar/234607 ^@ NM_032043.2(BRIP1):c.3532G>T (p.Glu1178Ter) http://identifiers.org/clinvar/234335 ^@ NM_014646.2(LPIN2):c.1489G>A (p.Glu497Lys) http://identifiers.org/clinvar/234657 ^@ NM_000166.5(GJB1):c.241C>G (p.Leu81Val) http://identifiers.org/clinvar/229941 ^@ NM_000465.3(BARD1):c.2176C>T (p.Pro726Ser) http://identifiers.org/clinvar/232130 ^@ NM_000465.3(BARD1):c.1462A>G (p.Asn488Asp) http://identifiers.org/clinvar/232631 ^@ NM_000465.3(BARD1):c.1213A>G (p.Arg405Gly) http://identifiers.org/clinvar/230241 ^@ NM_000465.3(BARD1):c.221G>C (p.Cys74Ser) http://identifiers.org/clinvar/232430 ^@ NM_000251.2(MSH2):c.-68-209C>T http://identifiers.org/clinvar/232681 ^@ NM_000251.2(MSH2):c.888C>G (p.Phe296Leu) http://identifiers.org/clinvar/229891 ^@ NM_000251.2(MSH2):c.2272G>T (p.Asp758Tyr) http://identifiers.org/clinvar/232230 ^@ NM_000179.2(MSH6):c.635C>T (p.Thr212Ile) http://identifiers.org/clinvar/229741 ^@ NM_000179.2(MSH6):c.942C>G (p.Ser314Arg) http://identifiers.org/clinvar/233031 ^@ NM_000179.2(MSH6):c.2245G>A (p.Gly749Arg) http://identifiers.org/clinvar/234123 ^@ NM_000179.2(MSH6):c.3762_3764dupAGA (p.Glu1254_Asp1255insGlu) http://identifiers.org/clinvar/232280 ^@ NM_000249.3(MLH1):c.1924C>G (p.Leu642Val) http://identifiers.org/clinvar/231430 ^@ NM_000038.5(APC):c.1534G>A (p.Asp512Asn) http://identifiers.org/clinvar/233973 ^@ NM_000038.5(APC):c.1866C>A (p.Tyr622Ter) http://identifiers.org/clinvar/264116 ^@ NM_005902.3(SMAD3):c.371C>T (p.Pro124Leu) http://identifiers.org/clinvar/264216 ^@ NM_017636.3(TRPM4):c.1323G>T (p.Val441=) http://identifiers.org/clinvar/264016 ^@ NM_001456.3(FLNA):c.6300C>T (p.Pro2100=) http://identifiers.org/clinvar/264680 ^@ NM_006502.2(POLH):c.725C>G (p.Ser242Ter) http://identifiers.org/clinvar/264737 ^@ NM_001242896.1(DEPDC5):c.2620C>T (p.Arg874Ter) http://identifiers.org/clinvar/264892 ^@ NM_000059.3(BRCA2):c.316+863A>C http://identifiers.org/clinvar/264942 ^@ NM_000059.3(BRCA2):c.425+234G>A http://identifiers.org/clinvar/264842 ^@ NM_007294.3(BRCA1):c.5152+188dup http://identifiers.org/clinvar/264792 ^@ NM_007294.3(BRCA1):c.302-41T>C http://identifiers.org/clinvar/265198 ^@ NM_006147.3(IRF6):c.668-1G>A http://identifiers.org/clinvar/265147 ^@ NM_000143.3(FH):c.668_669delAA (p.Lys223Argfs) http://identifiers.org/clinvar/265452 ^@ NM_000016.5(ACADM):c.946-2A>C http://identifiers.org/clinvar/265251 ^@ NM_005378.5(MYCN):c.1124_1125delCT (p.Ser375Terfs) http://identifiers.org/clinvar/265302 ^@ NM_198056.2(SCN5A):c.3925C>T (p.Arg1309Cys) http://identifiers.org/clinvar/265703 ^@ NM_178161.2(PTF1A):c.705delG (p.Pro236Argfs) http://identifiers.org/clinvar/265352 ^@ NM_005097.3(LGI1):c.931C>T (p.Arg311Ter) http://identifiers.org/clinvar/265653 ^@ NM_000051.3(ATM):c.6866_6867delCT (p.Ser2289Terfs) http://identifiers.org/clinvar/265047 ^@ NM_004183.3(BEST1):c.874G>A (p.Glu292Lys) http://identifiers.org/clinvar/265097 ^@ NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) http://identifiers.org/clinvar/264994 ^@ NM_015665.5(AAAS):c.1331+1G>A http://identifiers.org/clinvar/265552 ^@ NM_024675.3(PALB2):c.3114-1G>A http://identifiers.org/clinvar/265603 ^@ NM_001396.3(DYRK1A):c.727_729delTACinsATAGAGGTTGT (p.Tyr243Ilefs) http://identifiers.org/clinvar/265402 ^@ NM_005629.3(SLC6A8):c.1006_1008delAAC (p.Asn336del) http://identifiers.org/clinvar/265502 ^@ NM_000444.5(PHEX):c.1079+1G>A http://identifiers.org/clinvar/265792 ^@ NM_004959.4(NR5A1):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/266613 ^@ NM_000059.3(BRCA2):c.1189_1190insCAAC (p.Gln397Profs) http://identifiers.org/clinvar/266663 ^@ NM_000059.3(BRCA2):c.1841_1844delTTAA (p.Ile614Thrfs) http://identifiers.org/clinvar/266713 ^@ NM_000059.3(BRCA2):c.2657delA (p.Asn886Metfs) http://identifiers.org/clinvar/266763 ^@ NM_000059.3(BRCA2):c.3637delG (p.Glu1213Lysfs) http://identifiers.org/clinvar/266813 ^@ NM_000059.3(BRCA2):c.4429delA (p.Ile1477Phefs) http://identifiers.org/clinvar/266863 ^@ NM_000059.3(BRCA2):c.5218_5224delTTAAGTA (p.Leu1740Thrfs) http://identifiers.org/clinvar/266913 ^@ NM_000059.3(BRCA2):c.6010_6014delGAAGA (p.Glu2004Terfs) http://identifiers.org/clinvar/267013 ^@ NM_000059.3(BRCA2):c.7485dupT (p.Lys2496Terfs) http://identifiers.org/clinvar/267063 ^@ NM_000059.3(BRCA2):c.8276_8279delTGGG (p.Val2759Alafs) http://identifiers.org/clinvar/267113 ^@ NM_000059.3(BRCA2):c.8888C>G (p.Ser2963Ter) http://identifiers.org/clinvar/267163 ^@ NM_000059.3(BRCA2):c.9453delA (p.Glu3152Argfs) http://identifiers.org/clinvar/266563 ^@ NM_007294.3(BRCA1):c.5551delG (p.Asp1851Thrfs) http://identifiers.org/clinvar/267233 ^@ NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter) http://identifiers.org/clinvar/267296 ^@ NM_015308.3(FNBP4):c.683C>T (p.Thr228Met) http://identifiers.org/clinvar/267380 ^@ c.7449G>A http://identifiers.org/clinvar/267434 ^@ NM_017780.3(CHD7):c.5833C>T (p.Arg1945Ter) http://identifiers.org/clinvar/267670 ^@ NM_000059.3(BRCA2):c.7008-?_7435+?del http://identifiers.org/clinvar/267720 ^@ NM_000059.3(BRCA2):c.9256_9256+2delinsACAG http://identifiers.org/clinvar/267570 ^@ NM_007294.3(BRCA1):c.5074+1G>C http://identifiers.org/clinvar/267520 ^@ NM_007294.3(BRCA1):c.3075_3076ins76 (p.?) http://identifiers.org/clinvar/267620 ^@ NM_007294.3(BRCA1):c.80+2T>A http://identifiers.org/clinvar/267799 ^@ 46;XY;t(3;17)(p14.3;q24.3)dn http://identifiers.org/clinvar/267850 ^@ 46;XY;t(8;10)(q13;p13)dn http://identifiers.org/clinvar/267900 ^@ 46;XX;t(1;5)(q32;q15)dn http://identifiers.org/clinvar/267950 ^@ 46;XY;t(2;9)(p13;q34.3)pat http://identifiers.org/clinvar/268000 ^@ 46;XY;inv(2)(q21.3q32.1)mat http://identifiers.org/clinvar/268050 ^@ NM_080675.3(SUN5):c.381delA (p.Val128Serfs) http://identifiers.org/clinvar/268116 ^@ NM_144772.2(NAXE):c.177C>A (p.Tyr59Ter) http://identifiers.org/clinvar/291558 ^@ NM_001854.3(COL11A1):c.-198_-195delAGAG http://identifiers.org/clinvar/291611 ^@ NM_015074.3(KIF1B):c.*1715G>T http://identifiers.org/clinvar/292550 ^@ NM_019032.5(ADAMTSL4):c.2288C>T (p.Pro763Leu) http://identifiers.org/clinvar/292750 ^@ NM_001111.4(ADAR):c.*323G>C http://identifiers.org/clinvar/292600 ^@ NM_000449.3(RFX5):c.*888T>C http://identifiers.org/clinvar/293050 ^@ NM_003126.2(SPTA1):c.679G>A (p.Glu227Lys) http://identifiers.org/clinvar/292400 ^@ NM_014874.3(MFN2):c.*1161C>A http://identifiers.org/clinvar/292450 ^@ NM_005266.6(GJA5):c.353G>A (p.Arg118Gln) http://identifiers.org/clinvar/293450 ^@ NM_004431.4(EPHA2):c.121C>G (p.Leu41Val) http://identifiers.org/clinvar/293150 ^@ NM_000702.3(ATP1A2):c.*682T>C http://identifiers.org/clinvar/292500 ^@ NM_004698.2(PRPF3):c.1317T>C (p.Tyr439=) http://identifiers.org/clinvar/293300 ^@ NM_000530.7(MPZ):c.*1020G>A http://identifiers.org/clinvar/292650 ^@ NM_152263.3(TPM3):c.*3807G>T http://identifiers.org/clinvar/293600 ^@ NM_000130.4(F5):c.4189C>T (p.Leu1397Phe) http://identifiers.org/clinvar/292700 ^@ NM_006118.3(HAX1):c.-58T>G http://identifiers.org/clinvar/293500 ^@ NM_005149.2(TBX19):c.*1230C>T http://identifiers.org/clinvar/293650 ^@ NM_152281.2(GORAB):c.188T>G (p.Leu63Arg) http://identifiers.org/clinvar/292800 ^@ NM_000298.5(PKLR):c.*342C>T http://identifiers.org/clinvar/292900 ^@ NM_001012331.1(NTRK1):c.*6C>T http://identifiers.org/clinvar/292850 ^@ NM_022367.3(SEMA4A):c.1094C>T (p.Thr365Ile) http://identifiers.org/clinvar/292950 ^@ NM_003126.2(SPTA1):c.6549-4C>G http://identifiers.org/clinvar/293000 ^@ NM_003126.2(SPTA1):c.3166C>T (p.Arg1056Cys) http://identifiers.org/clinvar/293100 ^@ NM_002241.4(KCNJ10):c.*1827T>C http://identifiers.org/clinvar/293200 ^@ NM_002857.3(PEX19):c.*1980T>C http://identifiers.org/clinvar/293250 ^@ NM_000309.3(PPOX):c.360C>T (p.Pro120=) http://identifiers.org/clinvar/293400 ^@ NM_004431.4(EPHA2):c.*297G>A http://identifiers.org/clinvar/293350 ^@ NM_003001.3(SDHC):c.*1481G>A http://identifiers.org/clinvar/293550 ^@ NM_000130.4(F5):c.*1290G>A http://identifiers.org/clinvar/336355 ^@ NM_139279.5(MCFD2):c.*1415C>T http://identifiers.org/clinvar/336055 ^@ NM_022436.2(ABCG5):c.182G>A (p.Arg61Gln) http://identifiers.org/clinvar/336412 ^@ NM_002354.2(EPCAM):c.*36G>A http://identifiers.org/clinvar/336105 ^@ NM_133259.3(LRPPRC):c.*1981A>T http://identifiers.org/clinvar/343731 ^@ NM_032383.4(HPS3):c.*128A>G http://identifiers.org/clinvar/336462 ^@ NM_000233.3(LHCGR):c.1010T>C (p.Leu337Ser) http://identifiers.org/clinvar/336155 ^@ NM_133259.3(LRPPRC):c.2216G>A (p.Arg739His) http://identifiers.org/clinvar/336562 ^@ NM_001135659.2(NRXN1):c.-281T>C http://identifiers.org/clinvar/336205 ^@ NM_000341.3(SLC3A1):c.1354C>T (p.Arg452Trp) http://identifiers.org/clinvar/336255 ^@ NM_001430.4(EPAS1):c.882G>C (p.Gln294His) http://identifiers.org/clinvar/336812 ^@ NM_002056.3(GFPT1):c.*3679G>C http://identifiers.org/clinvar/336962 ^@ NM_003494.3(DYSF):c.2810C>T (p.Thr937Ile) http://identifiers.org/clinvar/337162 ^@ NM_003849.3(SUCLG1):c.98-13_98-11delTTT http://identifiers.org/clinvar/337262 ^@ NM_000821.6(GGCX):c.1806C>G (p.Val602=) http://identifiers.org/clinvar/337362 ^@ NM_022912.2(REEP1):c.*2077_*2078insA http://identifiers.org/clinvar/337512 ^@ NM_017849.3(TMEM127):c.-196C>T http://identifiers.org/clinvar/337562 ^@ NM_014014.4(SNRNP200):c.723G>A (p.Ser241=) http://identifiers.org/clinvar/337462 ^@ NM_017849.3(TMEM127):c.*2445G>T http://identifiers.org/clinvar/342292 ^@ NM_016247.3(IMPG2):c.*2612T>A http://identifiers.org/clinvar/346830 ^@ NM_000306.3(POU1F1):c.*179_*182delTTTA http://identifiers.org/clinvar/346930 ^@ NM_182896.2(ARL13B):c.*1853T>C http://identifiers.org/clinvar/347230 ^@ NM_001963.5(EGF):c.940+11G>A http://identifiers.org/clinvar/347380 ^@ NM_003619.3(PRSS12):c.*672C>T http://identifiers.org/clinvar/342792 ^@ NM_000388.3(CASR):c.-154T>A http://identifiers.org/clinvar/347430 ^@ NM_018699.3(PRDM5):c.1887C>T (p.Asp629=) http://identifiers.org/clinvar/347580 ^@ NM_031296.2(RAB33B):c.*796_*797delTT http://identifiers.org/clinvar/347630 ^@ NM_172250.2(MMAA):c.*1782A>G http://identifiers.org/clinvar/347780 ^@ NM_005141.4(FGB):c.*361A>T http://identifiers.org/clinvar/348030 ^@ NM_001166108.1(PALLD):c.428G>A (p.Arg143His) http://identifiers.org/clinvar/361935 ^@ NM_003235.4(TG):c.2980A>G (p.Ile994Val) http://identifiers.org/clinvar/353947 ^@ NM_001104631.1(PDE4D):c.*2279G>T http://identifiers.org/clinvar/353997 ^@ NM_001104631.1(PDE4D):c.705T>C (p.Thr235=) http://identifiers.org/clinvar/358797 ^@ NM_006193.2(PAX4):c.880C>A (p.Pro294Thr) http://identifiers.org/clinvar/358847 ^@ NM_000230.2(LEP):c.*2410G>A http://identifiers.org/clinvar/354547 ^@ NM_002397.4(MEF2C):c.*4136G>A http://identifiers.org/clinvar/358947 ^@ NM_018718.2(CEP41):c.-144G>A http://identifiers.org/clinvar/362735 ^@ NM_001017420.2(ESCO2):c.835A>G (p.Ser279Gly) http://identifiers.org/clinvar/354447 ^@ NM_004385.4(VCAN):c.7715C>T (p.Ser2572Leu) http://identifiers.org/clinvar/354497 ^@ NM_004385.4(VCAN):c.*1614G>T http://identifiers.org/clinvar/354647 ^@ NM_000439.4(PCSK1):c.1196+10A>G http://identifiers.org/clinvar/354597 ^@ NM_002397.4(MEF2C):c.-411C>G http://identifiers.org/clinvar/362935 ^@ NM_003816.2(ADAM9):c.1530C>G (p.Ala510=) http://identifiers.org/clinvar/363035 ^@ NM_000037.3(ANK1):c.1179G>A (p.Thr393=) http://identifiers.org/clinvar/363085 ^@ NM_006749.4(SLC20A2):c.834G>A (p.Lys278=) http://identifiers.org/clinvar/354797 ^@ NM_001242957.2(MAK):c.1128C>T (p.Val376=) http://identifiers.org/clinvar/363385 ^@ NM_017813.4(IMPAD1):c.*1220G>A http://identifiers.org/clinvar/354947 ^@ NM_014028.3(OSTM1):c.*2283T>C http://identifiers.org/clinvar/363585 ^@ NM_004820.4(CYP7B1):c.522T>C (p.Ser174=) http://identifiers.org/clinvar/359736 ^@ NM_032581.3(FAM126A):c.*2062G>T http://identifiers.org/clinvar/363735 ^@ NM_018972.2(GDAP1):c.*961G>C http://identifiers.org/clinvar/359836 ^@ NM_004403.2(DFNA5):c.*30C>T http://identifiers.org/clinvar/359986 ^@ NM_006735.3(HOXA2):c.-136A>G http://identifiers.org/clinvar/360086 ^@ NM_133468.4(BMPER):c.-263G>A http://identifiers.org/clinvar/364324 ^@ NM_005502.3(ABCA1):c.*3087C>T http://identifiers.org/clinvar/360286 ^@ NM_000162.3(GCK):c.*759delC http://identifiers.org/clinvar/360336 ^@ NM_014855.2(AP5Z1):c.1724T>G (p.Leu575Arg) http://identifiers.org/clinvar/364424 ^@ NM_005502.3(ABCA1):c.2988C>G (p.Phe996Leu) http://identifiers.org/clinvar/364474 ^@ NM_005502.3(ABCA1):c.-139T>C http://identifiers.org/clinvar/360486 ^@ NM_005228.4(EGFR):c.*1098C>T http://identifiers.org/clinvar/364924 ^@ NM_002316.3(LMX1B):c.*1427_*1441delTGTTTTGTTTTGTTT http://identifiers.org/clinvar/365074 ^@ NM_003165.3(STXBP1):c.*1732C>T http://identifiers.org/clinvar/365474 ^@ NM_000368.4(TSC1):c.*1519C>T http://identifiers.org/clinvar/366175 ^@ NM_144966.5(FREM1):c.207C>T (p.Thr69=) http://identifiers.org/clinvar/303116 ^@ NM_006918.4(SC5D):c.*5324_*5325delAT http://identifiers.org/clinvar/303216 ^@ NM_022370.3(ROBO3):c.-120G>C http://identifiers.org/clinvar/367214 ^@ NM_004817.3(TJP2):c.508A>G (p.Ser170Gly) http://identifiers.org/clinvar/303466 ^@ NM_016952.4(CDON):c.*1310dupT http://identifiers.org/clinvar/303666 ^@ NM_000890.3(KCNJ5):c.*1310C>T http://identifiers.org/clinvar/303716 ^@ NM_000525.3(KCNJ11):c.*697G>A http://identifiers.org/clinvar/303816 ^@ NM_005709.3(USH1C):c.105-4A>G http://identifiers.org/clinvar/367164 ^@ NM_000170.2(GLDC):c.*473C>T http://identifiers.org/clinvar/303866 ^@ NM_181507.1(HPS5):c.3259C>T (p.Leu1087=) http://identifiers.org/clinvar/303916 ^@ NM_005566.3(LDHA):c.777G>A (p.Leu259=) http://identifiers.org/clinvar/367264 ^@ NM_138691.2(TMC1):c.*93C>T http://identifiers.org/clinvar/298488 ^@ NM_021830.4(TWNK):c.-470G>A http://identifiers.org/clinvar/298588 ^@ NM_016169.3(SUFU):c.*1373C>T http://identifiers.org/clinvar/298638 ^@ NM_017649.4(CNNM2):c.564C>T (p.Ser188=) http://identifiers.org/clinvar/312364 ^@ NM_000053.3(ATP7B):c.*994_*997delACTG http://identifiers.org/clinvar/312464 ^@ NM_000115.4(EDNRB):c.*903G>A http://identifiers.org/clinvar/298838 ^@ NM_001134363.2(RBM20):c.*2054T>C http://identifiers.org/clinvar/312714 ^@ NM_022489.3(INF2):c.*16C>T http://identifiers.org/clinvar/312864 ^@ NM_002471.3(MYH6):c.3481G>A (p.Val1161Met) http://identifiers.org/clinvar/298938 ^@ NM_004132.4(HABP2):c.*869T>G http://identifiers.org/clinvar/313014 ^@ NM_004086.2(COCH):c.*714_*718delAAGTA http://identifiers.org/clinvar/299088 ^@ NM_001609.3(ACADSB):c.1228+8G>C http://identifiers.org/clinvar/298738 ^@ NM_000494.3(COL17A1):c.1307G>A (p.Gly436Glu) http://identifiers.org/clinvar/313264 ^@ NM_002408.3(MGAT2):c.*669delT http://identifiers.org/clinvar/299288 ^@ NM_001033855.2(DCLRE1C):c.*770_*773dupTAAA http://identifiers.org/clinvar/299488 ^@ NM_001081.3(CUBN):c.3551C>G (p.Pro1184Arg) http://identifiers.org/clinvar/299538 ^@ NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) http://identifiers.org/clinvar/299188 ^@ NM_000375.2(UROS):c.512T>G (p.Val171Gly) http://identifiers.org/clinvar/299238 ^@ NM_021980.4(OPTN):c.*1385T>C http://identifiers.org/clinvar/299388 ^@ NM_001081.3(CUBN):c.9005A>G (p.Glu3002Gly) http://identifiers.org/clinvar/305607 ^@ NM_000920.3(PC):c.*373C>T http://identifiers.org/clinvar/314753 ^@ NM_000153.3(GALC):c.997G>A (p.Gly333Arg) http://identifiers.org/clinvar/315103 ^@ NM_177438.2(DICER1):c.4206+9_4206+21delGTGTGTGTGTGTGinsT http://identifiers.org/clinvar/300377 ^@ NM_018344.5(SLC29A3):c.*353C>A http://identifiers.org/clinvar/315303 ^@ NM_139057.3(ADAMTS17):c.1053G>A (p.Lys351=) http://identifiers.org/clinvar/315353 ^@ NM_144599.4(NIPA1):c.*3872T>G http://identifiers.org/clinvar/300577 ^@ NM_004273.4(CHST3):c.*469C>A http://identifiers.org/clinvar/306471 ^@ NM_005591.3(MRE11):c.*671C>T http://identifiers.org/clinvar/317643 ^@ NM_000875.4(IGF1R):c.*6580C>T http://identifiers.org/clinvar/309720 ^@ NM_015665.5(AAAS):c.1566C>T (p.Ser522=) http://identifiers.org/clinvar/317793 ^@ NM_004862.3(LITAF):c.-188C>T http://identifiers.org/clinvar/309970 ^@ NM_000075.3(CDK4):c.*479T>C http://identifiers.org/clinvar/318043 ^@ NM_014714.3(IFT140):c.2781G>A (p.Ser927=) http://identifiers.org/clinvar/318145 ^@ NM_001143979.1(NDE1):c.*1389G>A http://identifiers.org/clinvar/318195 ^@ NM_014714.3(IFT140):c.1083C>T (p.Pro361=) http://identifiers.org/clinvar/330115 ^@ NM_015629.3(PRPF31):c.*152G>T http://identifiers.org/clinvar/310270 ^@ NM_021150.3(GRIP1):c.*1388_*1390dupATT http://identifiers.org/clinvar/330165 ^@ NM_206828.3(NLRP7):c.1718G>A (p.Gly573Asp) http://identifiers.org/clinvar/330215 ^@ NM_001256714.1(DNAAF3):c.1036G>A (p.Ala346Thr) http://identifiers.org/clinvar/330415 ^@ NM_000208.3(INSR):c.*927_*928insG http://identifiers.org/clinvar/306671 ^@ NM_018979.3(WNK1):c.*389C>T http://identifiers.org/clinvar/312564 ^@ NM_005708.4(GPC6):c.*385G>A http://identifiers.org/clinvar/319635 ^@ NM_015272.4(RPGRIP1L):c.*698T>C http://identifiers.org/clinvar/312614 ^@ NM_001376.4(DYNC1H1):c.-13C>G http://identifiers.org/clinvar/319785 ^@ NM_004530.5(MMP2):c.*930C>T http://identifiers.org/clinvar/320235 ^@ NM_001793.5(CDH3):c.1178G>A (p.Arg393Lys) http://identifiers.org/clinvar/313164 ^@ NM_006194.3(PAX9):c.6G>A (p.Glu2=) http://identifiers.org/clinvar/338952 ^@ NM_004738.4(VAPB):c.*1483_*1486dupGTGT http://identifiers.org/clinvar/313214 ^@ NM_020937.3(FANCM):c.4047A>G (p.Ser1349=) http://identifiers.org/clinvar/339052 ^@ NM_001001433.2(STX16):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/313314 ^@ NM_015915.4(ATL1):c.*528A>C http://identifiers.org/clinvar/339202 ^@ NM_017671.4(FERMT1):c.*193C>T http://identifiers.org/clinvar/313414 ^@ NM_172337.2(OTX2):c.*340delC http://identifiers.org/clinvar/313464 ^@ NM_005982.3(SIX1):c.822C>T (p.Pro274=) http://identifiers.org/clinvar/339302 ^@ NM_001853.3(COL9A3):c.1680C>T (p.Gly560=) http://identifiers.org/clinvar/313514 ^@ NM_182914.2(SYNE2):c.5284G>A (p.Gly1762Arg) http://identifiers.org/clinvar/313564 ^@ NM_182914.2(SYNE2):c.12001_12002invTG (p.Trp4001Gln) http://identifiers.org/clinvar/339452 ^@ NM_012469.3(PRPF6):c.-89C>T http://identifiers.org/clinvar/313614 ^@ NM_182914.2(SYNE2):c.16127A>G (p.Gln5376Arg) http://identifiers.org/clinvar/339752 ^@ NM_000219.5(KCNE1):c.*1192A>G http://identifiers.org/clinvar/339852 ^@ NM_001754.4(RUNX1):c.*933T>C http://identifiers.org/clinvar/321649 ^@ NM_002472.2(MYH8):c.1067C>T (p.Thr356Ile) http://identifiers.org/clinvar/340252 ^@ NM_130445.3(COL18A1):c.2632C>T (p.Pro878Ser) http://identifiers.org/clinvar/321699 ^@ NM_017534.5(MYH2):c.122C>T (p.Ala41Val) http://identifiers.org/clinvar/340302 ^@ NM_130445.3(COL18A1):c.*1157C>G http://identifiers.org/clinvar/328276 ^@ NM_000528.3(MAN2B1):c.843C>T (p.Asp281=) http://identifiers.org/clinvar/342192 ^@ NM_000487.5(ARSA):c.*1746G>A http://identifiers.org/clinvar/326737 ^@ NM_015559.2(SETBP1):c.1263A>G (p.Arg421=) http://identifiers.org/clinvar/328526 ^@ NM_000215.3(JAK3):c.-54C>T http://identifiers.org/clinvar/328626 ^@ NM_000095.2(COMP):c.218-7C>G http://identifiers.org/clinvar/329076 ^@ NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) http://identifiers.org/clinvar/327426 ^@ NM_000140.3(FECH):c.913-13A>G http://identifiers.org/clinvar/327576 ^@ NM_005570.3(LMAN1):c.539+3A>G http://identifiers.org/clinvar/327926 ^@ NM_001130823.2(DNMT1):c.387C>T (p.Pro129=) http://identifiers.org/clinvar/327976 ^@ NM_001005360.2(DNM2):c.633C>T (p.Asp211=) http://identifiers.org/clinvar/330265 ^@ NM_006087.3(TUBB4A):c.342C>T (p.Asp114=) http://identifiers.org/clinvar/328376 ^@ NM_000435.2(NOTCH3):c.5789C>T (p.Ala1930Val) http://identifiers.org/clinvar/330315 ^@ NM_000064.3(C3):c.1873A>T (p.Ile625Phe) http://identifiers.org/clinvar/330365 ^@ NM_000208.3(INSR):c.*3541C>T http://identifiers.org/clinvar/328426 ^@ NM_173483.3(CYP4F22):c.367+5G>A http://identifiers.org/clinvar/328576 ^@ NM_005535.2(IL12RB1):c.1879G>A (p.Glu627Lys) http://identifiers.org/clinvar/330515 ^@ NM_006702.4(PNPLA6):c.335G>A (p.Arg112Gln) http://identifiers.org/clinvar/329126 ^@ NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) http://identifiers.org/clinvar/329176 ^@ NM_033064.4(ATCAY):c.*1181G>A http://identifiers.org/clinvar/339002 ^@ NM_004738.4(VAPB):c.*5114G>A http://identifiers.org/clinvar/339402 ^@ NM_025219.2(DNAJC5):c.*2039C>T http://identifiers.org/clinvar/339502 ^@ NM_015192.3(PLCB1):c.1336-13T>C http://identifiers.org/clinvar/339552 ^@ NM_000933.3(PLCB4):c.61G>A (p.Ala21Thr) http://identifiers.org/clinvar/339652 ^@ NM_000484.3(APP):c.-44C>T http://identifiers.org/clinvar/339702 ^@ NM_000628.4(IL10RB):c.*365C>T http://identifiers.org/clinvar/330565 ^@ NM_006949.3(STXBP2):c.*7G>T http://identifiers.org/clinvar/339802 ^@ NM_001754.4(RUNX1):c.*3619A>G http://identifiers.org/clinvar/330615 ^@ NM_030957.3(ADAMTS10):c.-143G>C http://identifiers.org/clinvar/340052 ^@ NM_024022.2(TMPRSS3):c.*246G>A http://identifiers.org/clinvar/338501 ^@ NM_000022.3(ADA):c.*174T>A http://identifiers.org/clinvar/341192 ^@ NM_000355.3(TCN2):c.353T>C (p.Phe118Ser) http://identifiers.org/clinvar/339252 ^@ NM_017671.4(FERMT1):c.-514T>C http://identifiers.org/clinvar/341242 ^@ NM_000343.3(SLC5A1):c.770C>T (p.Thr257Ile) http://identifiers.org/clinvar/339352 ^@ NM_025219.2(DNAJC5):c.-109A>G http://identifiers.org/clinvar/341342 ^@ NM_000362.4(TIMP3):c.121+4A>G http://identifiers.org/clinvar/341442 ^@ NM_004737.5(LARGE1):c.-145-9A>C http://identifiers.org/clinvar/339602 ^@ NM_000933.3(PLCB4):c.*374A>G http://identifiers.org/clinvar/341742 ^@ NM_022098.3(XPNPEP3):c.*4227C>T http://identifiers.org/clinvar/341842 ^@ NM_001429.3(EP300):c.*568A>G http://identifiers.org/clinvar/339902 ^@ NM_144492.2(CLDN14):c.-480A>G http://identifiers.org/clinvar/339952 ^@ NM_000411.6(HLCS):c.*521C>T http://identifiers.org/clinvar/340002 ^@ NM_020639.2(RIPK4):c.*219T>G http://identifiers.org/clinvar/392771 ^@ NM_006258.3(PRKG1):c.1936A>G (p.Thr646Ala) http://identifiers.org/clinvar/379656 ^@ NM_139025.4(ADAMTS13):c.3044+1G>A http://identifiers.org/clinvar/393271 ^@ NM_000093.4(COL5A1):c.3545C>T (p.Thr1182Ile) http://identifiers.org/clinvar/377507 ^@ NM_000051.3(ATM):c.2589T>C (p.Asp863=) http://identifiers.org/clinvar/389293 ^@ NM_203447.3(DOCK8):c.477G>A (p.Pro159=) http://identifiers.org/clinvar/392921 ^@ NM_000352.4(ABCC8):c.793C>T (p.Arg265Trp) http://identifiers.org/clinvar/383804 ^@ NM_004329.2(BMPR1A):c.68-18T>C http://identifiers.org/clinvar/390932 ^@ NM_032578.3(MYPN):c.1863A>G (p.Arg621=) http://identifiers.org/clinvar/387054 ^@ NM_006231.3(POLE):c.5412G>A (p.Lys1804=) http://identifiers.org/clinvar/389393 ^@ NM_000352.4(ABCC8):c.1270G>A (p.Asp424Asn) http://identifiers.org/clinvar/378906 ^@ NM_000218.2(KCNQ1):c.536G>C (p.Gly179Ala) http://identifiers.org/clinvar/390682 ^@ NM_024740.2(ALG9):c.945T>C (p.Asn315=) http://identifiers.org/clinvar/378654 ^@ NM_001130438.2(SPTAN1):c.1651-17G>A http://identifiers.org/clinvar/386954 ^@ NM_032667.6(BSCL2):c.-105-19C>T http://identifiers.org/clinvar/386804 ^@ NM_021625.4(TRPV4):c.1584+18G>A http://identifiers.org/clinvar/383854 ^@ NM_006231.3(POLE):c.6532-20C>T http://identifiers.org/clinvar/386454 ^@ NM_020822.2(KCNT1):c.3028-14T>G http://identifiers.org/clinvar/391332 ^@ NM_021625.4(TRPV4):c.*1G>A http://identifiers.org/clinvar/379206 ^@ NM_000719.6(CACNA1C):c.1114-416G>A http://identifiers.org/clinvar/377607 ^@ NM_000719.6(CACNA1C):c.3912+14G>A http://identifiers.org/clinvar/379056 ^@ NM_000719.6(CACNA1C):c.4956+16C>T http://identifiers.org/clinvar/387154 ^@ NM_006231.3(POLE):c.1347G>C (p.Thr449=) http://identifiers.org/clinvar/378856 ^@ NM_003384.2(VRK1):c.1020C>T (p.Asp340=) http://identifiers.org/clinvar/387004 ^@ NM_002206.2(ITGA7):c.3058-6C>T http://identifiers.org/clinvar/383553 ^@ NM_000059.3(BRCA2):c.5010T>G (p.Ala1670=) http://identifiers.org/clinvar/388093 ^@ NM_001271.3(CHD2):c.*10C>T http://identifiers.org/clinvar/392871 ^@ NM_001112741.1(KCNC1):c.1294G>A (p.Val432Met) http://identifiers.org/clinvar/388343 ^@ NM_000548.4(TSC2):c.2019G>A (p.Ala673=) http://identifiers.org/clinvar/383754 ^@ NM_004563.3(PCK2):c.1405C>T (p.Arg469Cys) http://identifiers.org/clinvar/378756 ^@ NM_000391.3(TPP1):c.380+3G>A http://identifiers.org/clinvar/390982 ^@ NM_021914.7(CFL2):c.255C>T (p.Tyr85=) http://identifiers.org/clinvar/391732 ^@ NM_000137.2(FAH):c.1062G>A (p.Pro354=) http://identifiers.org/clinvar/386704 ^@ NM_013227.3(ACAN):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/377857 ^@ NM_000138.4(FBN1):c.988+20G>A http://identifiers.org/clinvar/379006 ^@ NM_002474.2(MYH11):c.4374C>T (p.Ala1458=) http://identifiers.org/clinvar/391282 ^@ NM_001101362.2(KBTBD13):c.921C>T (p.Leu307=) http://identifiers.org/clinvar/379606 ^@ NM_001171.5(ABCC6):c.1815C>T (p.Leu605=) http://identifiers.org/clinvar/47969 ^@ NM_152594.2(SPRED1):c.583-7A>G http://identifiers.org/clinvar/48021 ^@ NM_005709.3(USH1C):c.651A>G (p.Val217=) http://identifiers.org/clinvar/48071 ^@ NM_170707.3(LMNA):c.612G>A (p.Leu204=) http://identifiers.org/clinvar/48121 ^@ NM_000337.5(SGCD):c.69C>T (p.Tyr23=) http://identifiers.org/clinvar/48171 ^@ NM_194248.2(OTOF):c.146G>A (p.Arg49Gln) http://identifiers.org/clinvar/48221 ^@ NM_194248.2(OTOF):c.3679C>A (p.Arg1227=) http://identifiers.org/clinvar/48271 ^@ NM_194248.2(OTOF):c.5817G>T (p.Arg1939=) http://identifiers.org/clinvar/48322 ^@ NM_201555.1(FHL2):c.321C>T (p.Thr107=) http://identifiers.org/clinvar/48372 ^@ NM_206933.2(USH2A):c.11389+9A>T http://identifiers.org/clinvar/48422 ^@ NM_206933.2(USH2A):c.13709G>A (p.Arg4570His) http://identifiers.org/clinvar/48472 ^@ NM_206933.2(USH2A):c.1663C>G (p.Leu555Val) http://identifiers.org/clinvar/35 ^@ NM_001201543.1(FAM161A):c.685C>T (p.Arg229Ter) http://identifiers.org/clinvar/216 ^@ NM_000285.3(PEPD):c.1234G>A (p.Glu412Lys) http://identifiers.org/clinvar/364 ^@ NM_000267.3(NF1):c.4312_4314delGAA (p.Glu1438del) http://identifiers.org/clinvar/473 ^@ ALDOB, IVS6AS, G-A, -1 http://identifiers.org/clinvar/482 ^@ NM_000317.2(PTS):c.139A>G (p.Asn47Asp) http://identifiers.org/clinvar/551 ^@ NM_001012515.2(FECH):c.1268T>C (p.Phe423Ser) http://identifiers.org/clinvar/696 ^@ NM_001145320.1(ADAMTSL2):c.2431G>A (p.Gly811Arg) http://identifiers.org/clinvar/737 ^@ NM_203395.2(IYD):c.301C>T (p.Arg101Trp) http://identifiers.org/clinvar/746 ^@ CC2D2A, 1-BP DEL, 3289G http://identifiers.org/clinvar/755 ^@ NM_015575.3(GIGYF2):c.1818C>G (p.Asp606Glu) http://identifiers.org/clinvar/764 ^@ NM_015702.2(MMADHC):c.57_64delCTCTTTAG (p.Ser20Terfs) http://identifiers.org/clinvar/773 ^@ NM_198488.3(FAM83H):c.891T>A (p.Tyr297Ter) http://identifiers.org/clinvar/796 ^@ NM_000038.5(APC):c.1500T>G (p.Tyr500Ter) http://identifiers.org/clinvar/814 ^@ NM_000038.5(APC):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/864 ^@ NM_013319.2(UBIAD1):c.708C>G (p.Asp236Glu) http://identifiers.org/clinvar/2023 ^@ NM_017780.3(CHD7):c.3770T>G (p.Leu1257Arg) http://identifiers.org/clinvar/2069 ^@ NM_018100.3(EFHC1):c.776G>A (p.Cys259Tyr) http://identifiers.org/clinvar/2114 ^@ NM_003477.2(PDHX):c.641+1G>A http://identifiers.org/clinvar/2206 ^@ NM_024006.5(VKORC1):c.292C>T (p.Arg98Trp) http://identifiers.org/clinvar/2433 ^@ NM_153006.2(NAGS):c.1450T>C (p.Trp484Arg) http://identifiers.org/clinvar/2479 ^@ NM_024577.3(SH3TC2):c.1747_1748delAG (p.Arg583Alafs) http://identifiers.org/clinvar/2525 ^@ NM_015537.4(NSMF):c.1126-23_1126-15delTTGTGGCCT http://identifiers.org/clinvar/2572 ^@ NM_001166110.1(PALLD):c.415C>T (p.Pro139Ser) http://identifiers.org/clinvar/2618 ^@ NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) http://identifiers.org/clinvar/2664 ^@ NM_182760.3(SUMF1):c.1076C>A (p.Ser359Ter) http://identifiers.org/clinvar/2710 ^@ NM_178443.2(FERMT3):c.1729C>T (p.Arg577Ter) http://identifiers.org/clinvar/2756 ^@ LEMD3, 1941+5delG http://identifiers.org/clinvar/2800 ^@ GNPTG, 1-BP DEL, 639T http://identifiers.org/clinvar/2846 ^@ NM_000019.3(ACAT1):c.433C>G (p.Gln145Glu) http://identifiers.org/clinvar/2892 ^@ NM_000419.4(ITGA2B):c.1750C>T (p.Arg584Ter) http://identifiers.org/clinvar/2937 ^@ CTH, 2-BP DEL, 940CT http://identifiers.org/clinvar/2983 ^@ NM_000543.4(SMPD1):c.1314C>A (p.Ser438Arg) http://identifiers.org/clinvar/3028 ^@ NM_000051.3(ATM):c.7967T>C (p.Leu2656Pro) http://identifiers.org/clinvar/3077 ^@ NM_000487.5(ARSA):c.868C>T (p.Arg290Cys) http://identifiers.org/clinvar/3126 ^@ NM_000218.2(KCNQ1):c.1663C>T (p.Arg555Cys) http://identifiers.org/clinvar/3177 ^@ NM_138477.2(CDAN1):c.3389C>T (p.Pro1130Leu) http://identifiers.org/clinvar/3221 ^@ NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) http://identifiers.org/clinvar/3270 ^@ NM_024529.4(CDC73):c.679_680insAG (p.Arg227Lysfs) http://identifiers.org/clinvar/3315 ^@ NM_000383.3(AIRE):c.789delC (p.Ala264Leufs) http://identifiers.org/clinvar/12457 ^@ NM_001018005.1(TPM1):c.284T>C (p.Val95Ala) http://identifiers.org/clinvar/12507 ^@ NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys) http://identifiers.org/clinvar/12557 ^@ NM_001128177.1(THRB):c.958C>T (p.Arg320Cys) http://identifiers.org/clinvar/12608 ^@ NM_005343.3(HRAS):c.187G>A (p.Glu63Lys) http://identifiers.org/clinvar/12658 ^@ NM_003319.4(TTN):c.13250G>A (p.Ser4417Asn) http://identifiers.org/clinvar/12709 ^@ NM_004614.4(TK2):c.635T>A (p.Ile212Asn) http://identifiers.org/clinvar/12760 ^@ SURF1, 2-BP DEL, 855CT http://identifiers.org/clinvar/12810 ^@ SCP2, 1-BP INS, 545A http://identifiers.org/clinvar/12860 ^@ NM_003126.2(SPTA1):c.2465_2587del123 (p.Lys823_Gly863del) http://identifiers.org/clinvar/12911 ^@ NM_152296.4(ATP1A3):c.829G>A (p.Glu277Lys) http://identifiers.org/clinvar/13462 ^@ NM_000371.3(TTR):c.218G>A (p.Gly73Glu) http://identifiers.org/clinvar/13513 ^@ NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) http://identifiers.org/clinvar/13563 ^@ ITGB3, 11.2-KB DEL http://identifiers.org/clinvar/39764 ^@ RMND1, IVS2DS, G-A, +1 http://identifiers.org/clinvar/39814 ^@ NM_005465.4(AKT3):c.1393C>T (p.Arg465Trp) http://identifiers.org/clinvar/39865 ^@ NM_020376.3(PNPLA2):c.757+2T>C http://identifiers.org/clinvar/40049 ^@ NM_018972.2(GDAP1):c.980G>A (p.Gly327Asp) http://identifiers.org/clinvar/40204 ^@ NM_000693.3(ALDH1A3):c.1477G>C (p.Ala493Pro) http://identifiers.org/clinvar/40341 ^@ NM_004333.4(BRAF):c.365C>A (p.Ser122Tyr) http://identifiers.org/clinvar/40415 ^@ NM_005188.3(CBL):c.1871T>C (p.Leu624Ser) http://identifiers.org/clinvar/51150 ^@ NM_000059.3(BRCA2):c.1595_1599delAAACT (p.Glu532Glyfs) http://identifiers.org/clinvar/52117 ^@ NM_000059.3(BRCA2):c.6491_6495delAGTTG (p.Gln2164Argfs) http://identifiers.org/clinvar/52168 ^@ NM_000059.3(BRCA2):c.6715G>T (p.Glu2239Ter) http://identifiers.org/clinvar/52218 ^@ NM_000059.3(BRCA2):c.6901G>A (p.Glu2301Lys) http://identifiers.org/clinvar/52270 ^@ NM_000059.3(BRCA2):c.7110delA (p.Lys2370Asnfs) http://identifiers.org/clinvar/52320 ^@ NM_000059.3(BRCA2):c.7409dupT (p.Thr2471Hisfs) http://identifiers.org/clinvar/52370 ^@ NM_000059.3(BRCA2):c.7618-59G>T http://identifiers.org/clinvar/52421 ^@ NM_000059.3(BRCA2):c.7806_7807insAG (p.Ala2603Argfs) http://identifiers.org/clinvar/52471 ^@ NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) http://identifiers.org/clinvar/52521 ^@ NM_000059.3(BRCA2):c.8182G>C (p.Val2728Leu) http://identifiers.org/clinvar/52572 ^@ NM_000059.3(BRCA2):c.8393C>T (p.Pro2798Leu) http://identifiers.org/clinvar/52622 ^@ NM_000059.3(BRCA2):c.856T>C (p.Ser286Pro) http://identifiers.org/clinvar/52674 ^@ NM_000059.3(BRCA2):c.8756delG (p.Gly2919Valfs) http://identifiers.org/clinvar/52724 ^@ NM_000059.3(BRCA2):c.8999T>A (p.Leu3000Ter) http://identifiers.org/clinvar/52775 ^@ NM_000059.3(BRCA2):c.91T>C (p.Trp31Arg) http://identifiers.org/clinvar/52826 ^@ NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) http://identifiers.org/clinvar/52877 ^@ NM_000059.3(BRCA2):c.9637A>G (p.Asn3213Asp) http://identifiers.org/clinvar/52927 ^@ NM_000218.2(KCNQ1):c.1008delC (p.Ile337Serfs) http://identifiers.org/clinvar/52977 ^@ NM_000218.2(KCNQ1):c.1343delC (p.Pro448Glnfs) http://identifiers.org/clinvar/53027 ^@ NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) http://identifiers.org/clinvar/53077 ^@ NM_000218.2(KCNQ1):c.604G>A (p.Asp202Asn) http://identifiers.org/clinvar/53128 ^@ NM_000218.2(KCNQ1):c.921_921+2del3 http://identifiers.org/clinvar/53180 ^@ NM_000492.3(CFTR):c.1075_1079delCAAACinsAAAAA (p.Gln359_Thr360delinsLysLys) http://identifiers.org/clinvar/53232 ^@ NM_000492.3(CFTR):c.1331T>G (p.Ile444Ser) http://identifiers.org/clinvar/53283 ^@ NM_000492.3(CFTR):c.1579G>C (p.Glu527Gln) http://identifiers.org/clinvar/53334 ^@ NM_000492.3(CFTR):c.1679+18G>A http://identifiers.org/clinvar/53384 ^@ NM_000492.3(CFTR):c.1766G>T (p.Ser589Ile) http://identifiers.org/clinvar/54239 ^@ NM_007294.3(BRCA1):c.1393T>G (p.Tyr465Asp) http://identifiers.org/clinvar/54290 ^@ NM_007294.3(BRCA1):c.1555A>C (p.Lys519Gln) http://identifiers.org/clinvar/54340 ^@ NM_007294.3(BRCA1):c.1744A>G (p.Thr582Ala) http://identifiers.org/clinvar/54391 ^@ NM_007294.3(BRCA1):c.1900C>T (p.Pro634Ser) http://identifiers.org/clinvar/54441 ^@ NM_007294.3(BRCA1):c.2028_2029delTG (p.Gly677Serfs) http://identifiers.org/clinvar/54691 ^@ NM_007294.3(BRCA1):c.2832T>A (p.Cys944Ter) http://identifiers.org/clinvar/54741 ^@ NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile) http://identifiers.org/clinvar/54791 ^@ NM_007294.3(BRCA1):c.317delA (p.Asn106Ilefs) http://identifiers.org/clinvar/54841 ^@ NM_007294.3(BRCA1):c.3329_3330delAG (p.Lys1110Thrfs) http://identifiers.org/clinvar/54891 ^@ NM_007294.3(BRCA1):c.3463G>C (p.Asp1155His) http://identifiers.org/clinvar/54941 ^@ NM_007294.3(BRCA1):c.3624dupA (p.Leu1209Ilefs) http://identifiers.org/clinvar/54993 ^@ NM_007294.3(BRCA1):c.375_376insT (p.Gln126Serfs) http://identifiers.org/clinvar/55044 ^@ NM_007294.3(BRCA1):c.3903T>A (p.Ser1301Arg) http://identifiers.org/clinvar/55095 ^@ NM_007294.3(BRCA1):c.406dupA (p.Arg136Lysfs) http://identifiers.org/clinvar/55146 ^@ NM_007294.3(BRCA1):c.4228G>T (p.Glu1410Ter) http://identifiers.org/clinvar/55197 ^@ NM_007294.3(BRCA1):c.4416_4417delTTinsG (p.Ser1473Leufs) http://identifiers.org/clinvar/55247 ^@ NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) http://identifiers.org/clinvar/55298 ^@ NM_007294.3(BRCA1):c.4836dupG (p.Ser1613Glufs) http://identifiers.org/clinvar/55348 ^@ NM_007294.3(BRCA1):c.4987A>T (p.Met1663Leu) http://identifiers.org/clinvar/55398 ^@ NM_007294.3(BRCA1):c.5096G>T (p.Arg1699Leu) http://identifiers.org/clinvar/55448 ^@ NM_007294.3(BRCA1):c.5193+1G>C http://identifiers.org/clinvar/55500 ^@ NM_007294.3(BRCA1):c.5278-1G>A http://identifiers.org/clinvar/55551 ^@ NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp) http://identifiers.org/clinvar/55601 ^@ NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) http://identifiers.org/clinvar/55651 ^@ NM_007294.3(BRCA1):c.62dupT (p.Glu23Argfs) http://identifiers.org/clinvar/55755 ^@ NM_007294.3(BRCA1):c.924delC (p.Ser308Argfs) http://identifiers.org/clinvar/55827 ^@ NM_005236.2(ERCC4):c.706T>C (p.Cys236Arg) http://identifiers.org/clinvar/55889 ^@ NM_001312871.1(COX20):c.154A>C (p.Thr52Pro) http://identifiers.org/clinvar/55963 ^@ NM_000111.2(SLC26A3):c.1030_1047del18insGATGCC (p.Phe344_Val349delinsAspAla) http://identifiers.org/clinvar/56015 ^@ NM_000112.3(SLC26A2):c.1451G>A (p.Gly484Asp) http://identifiers.org/clinvar/56066 ^@ NM_000170.2(GLDC):c.2258A>C (p.His753Pro) http://identifiers.org/clinvar/56120 ^@ NM_000274.3(OAT):c.267C>A (p.Asn89Lys) http://identifiers.org/clinvar/56172 ^@ NM_000170.2(GLDC):c.2891dupA (p.Tyr964Terfs) http://identifiers.org/clinvar/57036 ^@ GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 http://identifiers.org/clinvar/57090 ^@ GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 http://identifiers.org/clinvar/57145 ^@ GRCh38/hg38 5p15.31-15.2(chr5:9843412-11298705)x3 http://identifiers.org/clinvar/57195 ^@ GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 http://identifiers.org/clinvar/57248 ^@ GRCh38/hg38 Xq28(chrX:155980375-156010307)x1 http://identifiers.org/clinvar/57302 ^@ GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 http://identifiers.org/clinvar/57355 ^@ GRCh38/hg38 3p14.2(chr3:60102627-60855742)x1 http://identifiers.org/clinvar/57406 ^@ GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 http://identifiers.org/clinvar/101173 ^@ NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu) http://identifiers.org/clinvar/101223 ^@ NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg) http://identifiers.org/clinvar/101273 ^@ NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg) http://identifiers.org/clinvar/101323 ^@ NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) http://identifiers.org/clinvar/101373 ^@ NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu) http://identifiers.org/clinvar/101473 ^@ NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) http://identifiers.org/clinvar/102425 ^@ NM_001847.3(COL4A6):c.1771G>A (p.Gly591Ser) http://identifiers.org/clinvar/102486 ^@ NM_000277.1(PAH):c.1036G>C (p.Gly346Arg) http://identifiers.org/clinvar/102543 ^@ NM_000277.1(PAH):c.1166delC (p.Ala389Glufs) http://identifiers.org/clinvar/102595 ^@ NM_000277.1(PAH):c.1340C>A (p.Ala447Asp) http://identifiers.org/clinvar/102650 ^@ NM_000277.1(PAH):c.311C>A (p.Ala104Asp) http://identifiers.org/clinvar/102701 ^@ NM_000277.1(PAH):c.493G>C (p.Ala165Pro) http://identifiers.org/clinvar/102751 ^@ NM_000277.1(PAH):c.60+5G>T http://identifiers.org/clinvar/102802 ^@ NM_000277.1(PAH):c.719T>C (p.Phe240Ser) http://identifiers.org/clinvar/102852 ^@ NM_000277.1(PAH):c.822_832delGCCCATGTATA (p.Lys274Asnfs) http://identifiers.org/clinvar/102904 ^@ NM_000277.1(PAH):c.940C>A (p.Pro314Thr) http://identifiers.org/clinvar/102962 ^@ NM_178844.3(NLRC3):c.2583C>G (p.Asn861Lys) http://identifiers.org/clinvar/103012 ^@ NM_000246.3(CIITA):c.628+84G>A http://identifiers.org/clinvar/103062 ^@ NM_001174081.2(NLRP2):c.281-20C>T http://identifiers.org/clinvar/103112 ^@ NM_022162.2(NOD2):c.*214T>C http://identifiers.org/clinvar/103162 ^@ NM_032206.4(NLRC5):c.2477+34T>C http://identifiers.org/clinvar/103212 ^@ NM_032206.4(NLRC5):c.856T>G (p.Ser286Ala) http://identifiers.org/clinvar/159904 ^@ NM_006517.4(SLC16A2):c.-53A>C http://identifiers.org/clinvar/160780 ^@ GRCh38/hg38 Xq28(chrX:154931352-155331063)x3 http://identifiers.org/clinvar/160830 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 http://identifiers.org/clinvar/161136 ^@ NM_152296.4(ATP1A3):c.2312C>A (p.Thr771Asn) http://identifiers.org/clinvar/161218 ^@ NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) http://identifiers.org/clinvar/161318 ^@ NM_001040113.1(MYH11):c.4963C>T (p.Arg1655Cys) http://identifiers.org/clinvar/161268 ^@ NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) http://identifiers.org/clinvar/162521 ^@ NM_172362.2(KCNH1):c.1546C>T (p.Leu516Phe) http://identifiers.org/clinvar/162608 ^@ NM_020066.4(FMN2):c.2515delA (p.Thr839Profs) http://identifiers.org/clinvar/177785 ^@ NM_000364.3(TNNT2):c.411C>T (p.Ile137=) http://identifiers.org/clinvar/177633 ^@ NM_001001430.2(TNNT2):c.311C>T (p.Ala104Val) http://identifiers.org/clinvar/179595 ^@ NM_001035.2(RYR2):c.7076G>A (p.Arg2359Gln) http://identifiers.org/clinvar/164790 ^@ NM_144573.3(NEXN):c.1065T>C (p.Asp355=) http://identifiers.org/clinvar/179545 ^@ NM_001035.2(RYR2):c.3128A>G (p.Lys1043Arg) http://identifiers.org/clinvar/177986 ^@ NM_001035.2(RYR2):c.11092-11dupT http://identifiers.org/clinvar/163526 ^@ NM_024009.2(GJB3):c.-4C>T http://identifiers.org/clinvar/178037 ^@ NM_201557.3(FHL2):c.207G>A (p.Ser69=) http://identifiers.org/clinvar/179795 ^@ NM_133378.4(TTN):c.99305G>C (p.Arg33102Thr) http://identifiers.org/clinvar/166475 ^@ NM_206933.2(USH2A):c.7039G>A (p.Val2347Met) http://identifiers.org/clinvar/178895 ^@ NM_133378.4(TTN):c.60393G>C (p.Gln20131His) http://identifiers.org/clinvar/179045 ^@ NM_133378.4(TTN):c.54288C>G (p.Asn18096Lys) http://identifiers.org/clinvar/179195 ^@ NM_133378.4(TTN):c.11096C>A (p.Ala3699Glu) http://identifiers.org/clinvar/179245 ^@ NM_133378.4(TTN):c.8131A>C (p.Lys2711Gln) http://identifiers.org/clinvar/179695 ^@ NM_194322.2(OTOF):c.-11A>G http://identifiers.org/clinvar/178744 ^@ NM_001369.2(DNAH5):c.11372C>T (p.Thr3791Ile) http://identifiers.org/clinvar/179645 ^@ NM_005633.3(SOS1):c.2918A>T (p.Gln973Leu) http://identifiers.org/clinvar/163156 ^@ NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) http://identifiers.org/clinvar/178137 ^@ NM_024334.2(TMEM43):c.45C>A (p.Val15=) http://identifiers.org/clinvar/177885 ^@ NM_003242.5(TGFBR2):c.1680C>G (p.Asp560Glu) http://identifiers.org/clinvar/166561 ^@ NM_000551.3(VHL):c.-75_-55del21 http://identifiers.org/clinvar/179295 ^@ NM_001199799.1(ILDR1):c.1600-13T>C http://identifiers.org/clinvar/178087 ^@ NM_000258.2(MYL3):c.246G>A (p.Ala82=) http://identifiers.org/clinvar/163106 ^@ NM_001277115.1(DNAH11):c.5537T>A (p.Val1846Asp) http://identifiers.org/clinvar/163039 ^@ NM_004403.2(DFNA5):c.405-12T>C http://identifiers.org/clinvar/177684 ^@ NM_005228.4(EGFR):c.2239_2248delTTAAGAGAAGinsC (p.Leu747_Ala750delinsPro) http://identifiers.org/clinvar/163372 ^@ NM_005228.4(EGFR):c.2277_2278insT (p.Leu760Serfs) http://identifiers.org/clinvar/178844 ^@ NM_015404.3(WHRN):c.328A>G (p.Thr110Ala) http://identifiers.org/clinvar/163628 ^@ NM_032119.3(ADGRV1):c.17342A>G (p.Gln5781Arg) http://identifiers.org/clinvar/198442 ^@ NM_001018113.2(FANCB):c.1371C>T (p.Val457=) http://identifiers.org/clinvar/198494 ^@ NM_003494.3(DYSF):c.707A>C (p.Asn236Thr) http://identifiers.org/clinvar/198807 ^@ NM_004415.3(DSP):c.979A>G (p.Asn327Asp) http://identifiers.org/clinvar/198861 ^@ NM_014795.3(ZEB2):c.2641A>C (p.Asn881His) http://identifiers.org/clinvar/198914 ^@ NM_001177317.1(SLC34A3):c.837G>A (p.Thr279=) http://identifiers.org/clinvar/198967 ^@ NM_001271208.1(NEB):c.17887G>A (p.Val5963Ile) http://identifiers.org/clinvar/199019 ^@ NM_000425.4(L1CAM):c.1002C>T (p.Tyr334=) http://identifiers.org/clinvar/199069 ^@ NM_001493.2(GDI1):c.1104G>A (p.Pro368=) http://identifiers.org/clinvar/199124 ^@ NM_007254.3(PNKP):c.853A>G (p.Ile285Val) http://identifiers.org/clinvar/199174 ^@ NM_031220.3(PITPNM3):c.987G>A (p.Leu329=) http://identifiers.org/clinvar/199230 ^@ NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu) http://identifiers.org/clinvar/199731 ^@ NM_000090.3(COL3A1):c.2485G>T (p.Ala829Ser) http://identifiers.org/clinvar/199840 ^@ NM_004415.3(DSP):c.4943A>G (p.Gln1648Arg) http://identifiers.org/clinvar/199897 ^@ NM_004415.3(DSP):c.5984T>C (p.Leu1995Ser) http://identifiers.org/clinvar/200268 ^@ NM_000238.3(KCNH2):c.3348G>A (p.Ala1116=) http://identifiers.org/clinvar/200689 ^@ NM_000238.3(KCNH2):c.2916_2917dupCC (p.Leu973Profs) http://identifiers.org/clinvar/200417 ^@ NM_000238.3(KCNH2):c.2192A>C (p.His731Pro) http://identifiers.org/clinvar/200582 ^@ NM_000238.3(KCNH2):c.296A>G (p.Tyr99Cys) http://identifiers.org/clinvar/200807 ^@ NM_000238.3(KCNH2):c.106delG (p.Val36Trpfs) http://identifiers.org/clinvar/199672 ^@ NM_001613.2(ACTA2):c.478G>A (p.Gly160Ser) http://identifiers.org/clinvar/200861 ^@ NM_000218.2(KCNQ1):c.1801C>T (p.Gln601Ter) http://identifiers.org/clinvar/200989 ^@ NM_130799.2(MEN1):c.1687G>T (p.Glu563Ter) http://identifiers.org/clinvar/200124 ^@ NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) http://identifiers.org/clinvar/199953 ^@ NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) http://identifiers.org/clinvar/200067 ^@ NM_000138.4(FBN1):c.5746T>C (p.Cys1916Arg) http://identifiers.org/clinvar/200012 ^@ NM_000138.4(FBN1):c.3145G>T (p.Gly1049Cys) http://identifiers.org/clinvar/200179 ^@ NM_000138.4(FBN1):c.1426T>G (p.Cys476Gly) http://identifiers.org/clinvar/201051 ^@ NM_002474.2(MYH11):c.1619G>A (p.Trp540Ter) http://identifiers.org/clinvar/201104 ^@ NM_002474.2(MYH11):c.963G>C (p.Gln321His) http://identifiers.org/clinvar/199786 ^@ NM_024422.4(DSC2):c.2548delGinsTT (p.Ala850Phefs) http://identifiers.org/clinvar/200921 ^@ NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) http://identifiers.org/clinvar/201939 ^@ NM_144573.3(NEXN):c.1002_1004delAAG (p.Arg336del) http://identifiers.org/clinvar/202052 ^@ NM_001134363.2(RBM20):c.224C>T (p.Ser75Leu) http://identifiers.org/clinvar/201882 ^@ NM_032578.3(MYPN):c.1012C>T (p.Arg338Cys) http://identifiers.org/clinvar/201995 ^@ NM_004572.3(PKP2):c.1828A>G (p.Ile610Val) http://identifiers.org/clinvar/202110 ^@ NM_003673.3(TCAP):c.209G>A (p.Arg70Gln) http://identifiers.org/clinvar/201831 ^@ NM_002230.2(JUP):c.818T>C (p.Met273Thr) http://identifiers.org/clinvar/202169 ^@ NM_015665.5(AAAS):c.938T>C (p.Val313Ala) http://identifiers.org/clinvar/202219 ^@ NC_000021.8:g.(?_47486134)_(47796810_?)dup http://identifiers.org/clinvar/203113 ^@ NM_001256850.1(TTN):c.102277G>A (p.Glu34093Lys) http://identifiers.org/clinvar/203063 ^@ NM_001256850.1(TTN):c.96583T>A (p.Cys32195Ser) http://identifiers.org/clinvar/203013 ^@ NM_001256850.1(TTN):c.90545A>G (p.His30182Arg) http://identifiers.org/clinvar/202963 ^@ NM_001256850.1(TTN):c.85181G>A (p.Arg28394His) http://identifiers.org/clinvar/202913 ^@ NM_001256850.1(TTN):c.77659C>T (p.Arg25887Trp) http://identifiers.org/clinvar/202863 ^@ NM_001256850.1(TTN):c.70759C>T (p.Pro23587Ser) http://identifiers.org/clinvar/202813 ^@ NM_001256850.1(TTN):c.62783G>A (p.Arg20928Gln) http://identifiers.org/clinvar/231541 ^@ NM_000038.5(APC):c.4437C>T (p.Val1479=) http://identifiers.org/clinvar/233934 ^@ NM_000038.5(APC):c.4705G>A (p.Asp1569Asn) http://identifiers.org/clinvar/233531 ^@ NM_005732.3(RAD50):c.415G>A (p.Glu139Lys) http://identifiers.org/clinvar/230891 ^@ NM_005732.3(RAD50):c.1088A>T (p.His363Leu) http://identifiers.org/clinvar/231241 ^@ NM_005732.3(RAD50):c.1313G>A (p.Gly438Glu) http://identifiers.org/clinvar/234034 ^@ NM_005732.3(RAD50):c.2636C>G (p.Thr879Ser) http://identifiers.org/clinvar/231441 ^@ NM_000535.6(PMS2):c.1653C>G (p.Cys551Trp) http://identifiers.org/clinvar/233783 ^@ NM_000535.6(PMS2):c.1318C>G (p.Pro440Ala) http://identifiers.org/clinvar/230591 ^@ NM_000535.6(PMS2):c.229G>A (p.Glu77Lys) http://identifiers.org/clinvar/231791 ^@ NM_002485.4(NBN):c.1535A>G (p.Glu512Gly) http://identifiers.org/clinvar/233581 ^@ NM_002485.4(NBN):c.1409A>G (p.Glu470Gly) http://identifiers.org/clinvar/234134 ^@ NM_002485.4(NBN):c.40G>A (p.Glu14Lys) http://identifiers.org/clinvar/231741 ^@ NM_000368.4(TSC1):c.932C>G (p.Pro311Arg) http://identifiers.org/clinvar/233631 ^@ NM_000314.6(PTEN):c.371G>A (p.Cys124Tyr) http://identifiers.org/clinvar/231341 ^@ NM_000314.6(PTEN):c.1203A>G (p.Thr401=) http://identifiers.org/clinvar/231641 ^@ NM_000051.3(ATM):c.891C>G (p.Thr297=) http://identifiers.org/clinvar/233481 ^@ NM_000051.3(ATM):c.2168T>C (p.Val723Ala) http://identifiers.org/clinvar/231391 ^@ NM_000051.3(ATM):c.4151A>G (p.His1384Arg) http://identifiers.org/clinvar/230691 ^@ NM_000051.3(ATM):c.4468A>G (p.Ser1490Gly) http://identifiers.org/clinvar/233231 ^@ NM_000051.3(ATM):c.5023T>C (p.Leu1675=) http://identifiers.org/clinvar/234234 ^@ NM_000051.3(ATM):c.8475A>G (p.Gln2825=) http://identifiers.org/clinvar/230841 ^@ NM_000051.3(ATM):c.8737G>T (p.Asp2913Tyr) http://identifiers.org/clinvar/230741 ^@ NM_005591.3(MRE11):c.2099C>G (p.Thr700Ser) http://identifiers.org/clinvar/233181 ^@ NM_005591.3(MRE11):c.1611T>C (p.Ala537=) http://identifiers.org/clinvar/233331 ^@ NM_000059.3(BRCA2):c.2160T>C (p.Asp720=) http://identifiers.org/clinvar/231591 ^@ NM_000059.3(BRCA2):c.3714G>A (p.Val1238=) http://identifiers.org/clinvar/231191 ^@ NM_000059.3(BRCA2):c.4960T>G (p.Cys1654Gly) http://identifiers.org/clinvar/230991 ^@ NM_000059.3(BRCA2):c.5334_5340delTGTTGAA (p.Asn1778Lysfs) http://identifiers.org/clinvar/234184 ^@ NM_000059.3(BRCA2):c.7783G>A (p.Ala2595Thr) http://identifiers.org/clinvar/233431 ^@ NM_000059.3(BRCA2):c.8527A>G (p.Asn2843Asp) http://identifiers.org/clinvar/230941 ^@ NM_024675.3(PALB2):c.2142_2143insTAA (p.Asp715_Met1049delinsTer) http://identifiers.org/clinvar/230641 ^@ NM_004360.4(CDH1):c.161G>A (p.Arg54Lys) http://identifiers.org/clinvar/230541 ^@ NM_144997.5(FLCN):c.1364A>G (p.Glu455Gly) http://identifiers.org/clinvar/233681 ^@ NM_001042492.2(NF1):c.366C>T (p.His122=) http://identifiers.org/clinvar/233732 ^@ NM_001042492.2(NF1):c.2251+5A>T http://identifiers.org/clinvar/233833 ^@ NM_001042492.2(NF1):c.3246T>C (p.Gly1082=) http://identifiers.org/clinvar/231041 ^@ NM_001042492.2(NF1):c.6323C>T (p.Thr2108Ile) http://identifiers.org/clinvar/230791 ^@ NM_001042492.2(NF1):c.6779C>T (p.Ser2260Phe) http://identifiers.org/clinvar/230491 ^@ NM_007294.3(BRCA1):c.3588A>G (p.Thr1196=) http://identifiers.org/clinvar/233381 ^@ NM_007294.3(BRCA1):c.1005C>A (p.Ser335Arg) http://identifiers.org/clinvar/232731 ^@ NM_032043.2(BRIP1):c.1590T>G (p.Leu530=) http://identifiers.org/clinvar/233281 ^@ NM_005359.5(SMAD4):c.1596C>T (p.Ala532=) http://identifiers.org/clinvar/231141 ^@ NM_000455.4(STK11):c.791T>A (p.Phe264Tyr) http://identifiers.org/clinvar/235341 ^@ NM_005745.7(BCAP31):c.383C>T (p.Thr128Met) http://identifiers.org/clinvar/235395 ^@ NM_002621.2(CFP):c.236G>A (p.Arg79Gln) http://identifiers.org/clinvar/235450 ^@ NM_015215.3(CAMTA1):c.806-6delC http://identifiers.org/clinvar/235502 ^@ NM_018714.2(COG1):c.775G>T (p.Val259Leu) http://identifiers.org/clinvar/235555 ^@ NC_012920.1:m.13485A>G http://identifiers.org/clinvar/235606 ^@ NC_012920.1:m.8856G>A http://identifiers.org/clinvar/235658 ^@ NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) http://identifiers.org/clinvar/235712 ^@ NM_000061.2(BTK):c.141+11C>T http://identifiers.org/clinvar/235774 ^@ NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) http://identifiers.org/clinvar/235846 ^@ NM_007327.3(GRIN1):c.1670C>G (p.Pro557Arg) http://identifiers.org/clinvar/236030 ^@ NC_000008.10:g.42338721_42916885del578165 http://identifiers.org/clinvar/236130 ^@ NM_000350.2(ABCA4):c.5363C>T (p.Pro1788Leu) http://identifiers.org/clinvar/236080 ^@ NM_000350.2(ABCA4):c.1293G>A (p.Trp431Ter) http://identifiers.org/clinvar/236180 ^@ NM_004621.5(TRPC6):c.455T>C (p.Leu152Pro) http://identifiers.org/clinvar/236268 ^@ NM_007294.3(BRCA1):c.2562_2563insGC (p.Gln855Alafs) http://identifiers.org/clinvar/236319 ^@ NC_000017.9:g.14040467_15411904del1371438 http://identifiers.org/clinvar/236369 ^@ NC_000015.9:g.30940504_32620088del1679585 http://identifiers.org/clinvar/236470 ^@ NM_201253.2(CRB1):c.1612_1613insCTTA (p.Leu538Profs) http://identifiers.org/clinvar/236520 ^@ NM_001142763.1(PCDH15):c.5586C>A (p.Ala1862=) http://identifiers.org/clinvar/236420 ^@ NM_015629.3(PRPF31):c.341T>A (p.Ile114Asn) http://identifiers.org/clinvar/240960 ^@ NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) http://identifiers.org/clinvar/239420 ^@ NM_003000.2(SDHB):c.113G>A (p.Arg38His) http://identifiers.org/clinvar/240710 ^@ NM_006922.3(SCN3A):c.363T>C (p.Ala121=) http://identifiers.org/clinvar/238866 ^@ NM_001267550.2(TTN):c.93975G>A (p.Ser31325=) http://identifiers.org/clinvar/238816 ^@ NM_001267550.2(TTN):c.60120A>G (p.Leu20040=) http://identifiers.org/clinvar/238766 ^@ NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) http://identifiers.org/clinvar/238716 ^@ NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala) http://identifiers.org/clinvar/241010 ^@ NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) http://identifiers.org/clinvar/238566 ^@ NM_001148.4(ANK2):c.10371G>A (p.Thr3457=) http://identifiers.org/clinvar/241110 ^@ NM_016599.4(MYOZ2):c.480G>A (p.Pro160=) http://identifiers.org/clinvar/236570 ^@ NM_000038.5(APC):c.2069G>A (p.Arg690Lys) http://identifiers.org/clinvar/236620 ^@ NM_000038.5(APC):c.5506G>A (p.Gly1836Arg) http://identifiers.org/clinvar/238616 ^@ NM_001182.4(ALDH7A1):c.1201-8T>C http://identifiers.org/clinvar/239067 ^@ NM_001903.4(CTNNA1):c.618G>C (p.Gln206His) http://identifiers.org/clinvar/238966 ^@ NM_001369.2(DNAH5):c.1830G>A (p.Gln610=) http://identifiers.org/clinvar/239670 ^@ NM_004168.3(SDHA):c.453C>T (p.Val151=) http://identifiers.org/clinvar/238916 ^@ NM_001277115.1(DNAH11):c.4203G>C (p.Gln1401His) http://identifiers.org/clinvar/262769 ^@ NM_153717.2(EVC):c.1854C>T (p.Gly618=) http://identifiers.org/clinvar/258519 ^@ NM_001999.3(FBN2):c.4949-18C>G http://identifiers.org/clinvar/259870 ^@ NM_005732.3(RAD50):c.551+19G>A http://identifiers.org/clinvar/256030 ^@ NM_000405.4(GM2A):c.55G>A (p.Ala19Thr) http://identifiers.org/clinvar/259119 ^@ NM_003664.4(AP3B1):c.402C>T (p.Ser134=) http://identifiers.org/clinvar/259369 ^@ NM_004385.4(VCAN):c.574G>A (p.Gly192Arg) http://identifiers.org/clinvar/256080 ^@ NM_000426.3(LAMA2):c.6649G>A (p.Val2217Ile) http://identifiers.org/clinvar/262169 ^@ NM_033071.3(SYNE1):c.16359+32G>C http://identifiers.org/clinvar/262419 ^@ NM_138694.3(PKHD1):c.8173+37G>A http://identifiers.org/clinvar/259319 ^@ NM_004370.5(COL12A1):c.1551A>G (p.Thr517=) http://identifiers.org/clinvar/258769 ^@ NM_002485.4(NBN):c.2071-30A>T http://identifiers.org/clinvar/255091 ^@ NM_000093.4(COL5A1):c.4954+17dupG http://identifiers.org/clinvar/255680 ^@ NM_000264.3(PTCH1):c.3117A>G (p.Thr1039=) http://identifiers.org/clinvar/259770 ^@ NM_005445.3(SMC3):c.350+21T>A http://identifiers.org/clinvar/256880 ^@ NM_001008211.1(OPTN):c.370-14C>G http://identifiers.org/clinvar/262219 ^@ NM_033100.3(CDHR1):c.863-9C>T http://identifiers.org/clinvar/255930 ^@ NM_000352.4(ABCC8):c.354C>T (p.Val118=) http://identifiers.org/clinvar/258969 ^@ NM_003156.3(STIM1):c.1239-13C>T http://identifiers.org/clinvar/259169 ^@ NM_003793.3(CTSF):c.219T>C (p.Gly73=) http://identifiers.org/clinvar/258569 ^@ NM_002180.2(IGHMBP2):c.2259C>T (p.His753=) http://identifiers.org/clinvar/258819 ^@ NM_002834.4(PTPN11):c.540C>T (p.Asp180=) http://identifiers.org/clinvar/262819 ^@ NM_172364.4(CACNA2D4):c.487-4C>T http://identifiers.org/clinvar/262569 ^@ NM_145064.2(STAC3):c.-1G>A http://identifiers.org/clinvar/256680 ^@ NM_000552.4(VWF):c.4641T>C (p.Thr1547=) http://identifiers.org/clinvar/255141 ^@ NM_000115.4(EDNRB):c.731C>T (p.Thr244Met) http://identifiers.org/clinvar/259619 ^@ NM_005050.3(ABCD4):c.1102G>A (p.Glu368Lys) http://identifiers.org/clinvar/255730 ^@ NM_000275.2(OCA2):c.2364G>A (p.Ser788=) http://identifiers.org/clinvar/262369 ^@ NM_138477.2(CDAN1):c.2174+20G>A http://identifiers.org/clinvar/335666 ^@ NM_001029883.2(C2orf71):c.1024G>A (p.Gly342Ser) http://identifiers.org/clinvar/335716 ^@ NM_004304.4(ALK):c.310C>A (p.Pro104Thr) http://identifiers.org/clinvar/335766 ^@ NM_000379.3(XDH):c.3059C>T (p.Ala1020Val) http://identifiers.org/clinvar/335816 ^@ NM_000348.3(SRD5A2):c.*88T>A http://identifiers.org/clinvar/335866 ^@ NM_014946.3(SPAST):c.*1604G>A http://identifiers.org/clinvar/335166 ^@ NM_004544.3(NDUFA10):c.*2495C>T http://identifiers.org/clinvar/335516 ^@ NM_000221.2(KHK):c.*791G>A http://identifiers.org/clinvar/336423 ^@ NM_000251.2(MSH2):c.-94C>G http://identifiers.org/clinvar/335616 ^@ NM_001029883.2(C2orf71):c.*983G>A http://identifiers.org/clinvar/336473 ^@ NM_000233.3(LHCGR):c.-58G>T http://identifiers.org/clinvar/336366 ^@ NM_139279.5(MCFD2):c.*912C>T http://identifiers.org/clinvar/336523 ^@ NM_001135659.2(NRXN1):c.*1235_*1246delACACACACACAC http://identifiers.org/clinvar/336673 ^@ NM_002618.3(PEX13):c.*216T>C http://identifiers.org/clinvar/336723 ^@ NM_032180.2(FAM161A):c.*757G>A http://identifiers.org/clinvar/337612 ^@ NM_020184.3(CNNM4):c.*1565C>T http://identifiers.org/clinvar/337662 ^@ NM_001298.2(CNGA3):c.1343A>G (p.Lys448Arg) http://identifiers.org/clinvar/342392 ^@ NM_033084.4(FANCD2):c.*462C>T http://identifiers.org/clinvar/336923 ^@ NM_001692.3(ATP6V1B1):c.1143+10T>C http://identifiers.org/clinvar/342442 ^@ NM_000551.3(VHL):c.*1643C>A http://identifiers.org/clinvar/342592 ^@ NM_198196.2(CD96):c.*2380C>T http://identifiers.org/clinvar/342642 ^@ NM_020754.3(ARHGAP31):c.1307G>A (p.Arg436Gln) http://identifiers.org/clinvar/334666 ^@ NM_000092.4(COL4A4):c.*2945T>C http://identifiers.org/clinvar/334716 ^@ NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) http://identifiers.org/clinvar/342842 ^@ NM_053025.3(MYLK):c.*857_*860dupTTTG http://identifiers.org/clinvar/335066 ^@ NM_000541.4(SAG):c.201C>T (p.Cys67=) http://identifiers.org/clinvar/334766 ^@ NM_000091.4(COL4A3):c.2021-9G>C http://identifiers.org/clinvar/343042 ^@ NM_000373.3(UMPS):c.*4906G>C http://identifiers.org/clinvar/335316 ^@ NM_152783.4(D2HGDH):c.923C>G (p.Ser308Cys) http://identifiers.org/clinvar/334916 ^@ NM_004509.3(SP110):c.459G>A (p.Ala153=) http://identifiers.org/clinvar/343192 ^@ NM_014049.4(ACAD9):c.195T>C (p.Asn65=) http://identifiers.org/clinvar/343242 ^@ NM_052985.3(IFT122):c.1706G>A (p.Arg569His) http://identifiers.org/clinvar/342542 ^@ NM_198196.2(CD96):c.1385C>T (p.Pro462Leu) http://identifiers.org/clinvar/335216 ^@ NM_004321.7(KIF1A):c.*3035G>C http://identifiers.org/clinvar/335266 ^@ NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) http://identifiers.org/clinvar/342742 ^@ NM_000187.3(HGD):c.880-4A>G http://identifiers.org/clinvar/343642 ^@ NM_000935.2(PLOD2):c.*148T>C http://identifiers.org/clinvar/335366 ^@ NM_000182.4(HADHA):c.*464_*465delTG http://identifiers.org/clinvar/343792 ^@ NM_000096.3(CP):c.-165C>T http://identifiers.org/clinvar/335466 ^@ NM_194248.2(OTOF):c.-64G>A http://identifiers.org/clinvar/342942 ^@ NM_000373.3(UMPS):c.*726C>T http://identifiers.org/clinvar/335566 ^@ NM_144631.5(ZNF513):c.-125G>T http://identifiers.org/clinvar/342992 ^@ NM_000373.3(UMPS):c.*2995A>G http://identifiers.org/clinvar/343092 ^@ NM_002880.3(RAF1):c.*745_*748delAACA http://identifiers.org/clinvar/335966 ^@ NM_005633.3(SOS1):c.*4023T>C http://identifiers.org/clinvar/343142 ^@ NM_032638.4(GATA2):c.-5C>T http://identifiers.org/clinvar/343292 ^@ NM_000539.3(RHO):c.*313C>T http://identifiers.org/clinvar/351221 ^@ NM_001369.2(DNAH5):c.465G>A (p.Ala155=) http://identifiers.org/clinvar/351171 ^@ NM_199189.2(MATR3):c.*1394G>A http://identifiers.org/clinvar/351071 ^@ NM_022464.4(SIL1):c.*265C>G http://identifiers.org/clinvar/351321 ^@ NM_001018077.1(NR3C1):c.*3298G>T http://identifiers.org/clinvar/351271 ^@ NM_005219.4(DIAPH1):c.*932dupA http://identifiers.org/clinvar/351371 ^@ NM_001018077.1(NR3C1):c.879G>A (p.Lys293=) http://identifiers.org/clinvar/351571 ^@ NM_024577.3(SH3TC2):c.*22034C>T http://identifiers.org/clinvar/351621 ^@ NM_024577.3(SH3TC2):c.*17036C>G http://identifiers.org/clinvar/351671 ^@ NM_024577.3(SH3TC2):c.*13352G>A http://identifiers.org/clinvar/351771 ^@ NM_024577.3(SH3TC2):c.*7285G>C http://identifiers.org/clinvar/359047 ^@ NM_004333.4(BRAF):c.2128-28dupT http://identifiers.org/clinvar/351921 ^@ NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) http://identifiers.org/clinvar/359247 ^@ NM_014141.5(CNTNAP2):c.*3433G>A http://identifiers.org/clinvar/352021 ^@ NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) http://identifiers.org/clinvar/359347 ^@ NM_016203.3(PRKAG2):c.395A>G (p.Lys132Arg) http://identifiers.org/clinvar/359447 ^@ NM_058246.3(DNAJB6):c.-93G>T http://identifiers.org/clinvar/351971 ^@ NM_000440.2(PDE6A):c.*756T>C http://identifiers.org/clinvar/359847 ^@ NM_004403.2(DFNA5):c.766G>A (p.Asp256Asn) http://identifiers.org/clinvar/359947 ^@ NM_005522.4(HOXA1):c.*563G>C http://identifiers.org/clinvar/360047 ^@ NM_198428.2(BBS9):c.-456G>A http://identifiers.org/clinvar/360097 ^@ NM_133468.4(BMPER):c.133+9G>C http://identifiers.org/clinvar/360147 ^@ NM_133468.4(BMPER):c.*1703C>T http://identifiers.org/clinvar/360247 ^@ NM_000168.5(GLI3):c.1028+15G>A http://identifiers.org/clinvar/353258 ^@ NM_014324.5(AMACR):c.-70G>A http://identifiers.org/clinvar/360986 ^@ NM_003919.2(SGCE):c.*101A>G http://identifiers.org/clinvar/357558 ^@ NM_001723.5(DST):c.6031G>C (p.Val2011Leu) http://identifiers.org/clinvar/353208 ^@ NM_004168.3(SDHA):c.*133G>C http://identifiers.org/clinvar/361336 ^@ NM_178857.5(RP1L1):c.2732G>T (p.Ser911Ile) http://identifiers.org/clinvar/361386 ^@ NM_178857.5(RP1L1):c.1067A>T (p.Asp356Val) http://identifiers.org/clinvar/353358 ^@ NM_004172.4(SLC1A3):c.*1747G>A http://identifiers.org/clinvar/361487 ^@ NM_001715.2(BLK):c.879C>T (p.His293=) http://identifiers.org/clinvar/353408 ^@ NM_023073.3(C5orf42):c.*465G>A http://identifiers.org/clinvar/361796 ^@ NM_004519.3(KCNQ3):c.*5018C>G http://identifiers.org/clinvar/363835 ^@ NM_000067.2(CA2):c.539C>T (p.Pro180Leu) http://identifiers.org/clinvar/299788 ^@ NM_032844.4(MASTL):c.518C>T (p.Thr173Met) http://identifiers.org/clinvar/363935 ^@ NM_153704.5(TMEM67):c.*941T>C http://identifiers.org/clinvar/299888 ^@ NM_020975.4(RET):c.432C>T (p.Arg144=) http://identifiers.org/clinvar/361036 ^@ NM_017890.4(VPS13B):c.365C>T (p.Pro122Leu) http://identifiers.org/clinvar/300038 ^@ NM_000124.3(ERCC6):c.4211G>A (p.Arg1404His) http://identifiers.org/clinvar/300088 ^@ NM_000124.3(ERCC6):c.1158C>A (p.Asp386Glu) http://identifiers.org/clinvar/306632 ^@ NM_139319.2(SLC17A8):c.958A>G (p.Ile320Val) http://identifiers.org/clinvar/306732 ^@ NM_002465.3(MYBPC1):c.1457C>A (p.Pro486Gln) http://identifiers.org/clinvar/364285 ^@ NM_001701.3(BAAT):c.-183T>A http://identifiers.org/clinvar/364385 ^@ NM_005502.3(ABCA1):c.5774G>A (p.Arg1925Gln) http://identifiers.org/clinvar/306932 ^@ NM_018082.5(POLR3B):c.1038A>G (p.Gln346=) http://identifiers.org/clinvar/364335 ^@ NM_005502.3(ABCA1):c.*2311A>G http://identifiers.org/clinvar/364435 ^@ NM_005502.3(ABCA1):c.2196G>A (p.Gln732=) http://identifiers.org/clinvar/364585 ^@ NM_003640.4(IKBKAP):c.-126T>G http://identifiers.org/clinvar/300688 ^@ NM_016065.3(MRPS16):c.*1510delT http://identifiers.org/clinvar/364685 ^@ NM_015404.3(WHRN):c.1892C>T (p.Ala631Val) http://identifiers.org/clinvar/364735 ^@ NM_012210.3(TRIM32):c.*1060T>C http://identifiers.org/clinvar/364785 ^@ NM_018249.5(CDK5RAP2):c.383C>G (p.Ser128Cys) http://identifiers.org/clinvar/364835 ^@ NM_000177.4(GSN):c.*116_*117insG http://identifiers.org/clinvar/365085 ^@ NM_000118.3(ENG):c.1806C>T (p.Ile602=) http://identifiers.org/clinvar/365874 ^@ NM_019892.5(INPP5E):c.*630G>A http://identifiers.org/clinvar/365925 ^@ NM_006412.3(AGPAT2):c.483C>T (p.Val161=) http://identifiers.org/clinvar/309331 ^@ NM_002234.3(KCNA5):c.36T>C (p.Gly12=) http://identifiers.org/clinvar/365975 ^@ NM_016219.4(MAN1B1):c.1932C>A (p.Val644=) http://identifiers.org/clinvar/298449 ^@ NM_000392.4(ABCC2):c.1233C>T (p.Ala411=) http://identifiers.org/clinvar/309431 ^@ NM_014191.3(SCN8A):c.*4799_*4802delTGTG http://identifiers.org/clinvar/366075 ^@ NM_144966.5(FREM1):c.*1388dupT http://identifiers.org/clinvar/365774 ^@ NM_000093.4(COL5A1):c.*1637C>A http://identifiers.org/clinvar/309731 ^@ NM_015665.5(AAAS):c.912T>G (p.Ala304=) http://identifiers.org/clinvar/309831 ^@ NM_000456.2(SUOX):c.50+9G>A http://identifiers.org/clinvar/302327 ^@ NM_002906.3(RDX):c.*1251A>C http://identifiers.org/clinvar/366025 ^@ NM_024757.4(EHMT1):c.3107G>T (p.Ser1036Ile) http://identifiers.org/clinvar/366125 ^@ NM_144966.5(FREM1):c.4001C>A (p.Pro1334His) http://identifiers.org/clinvar/366225 ^@ NM_203447.3(DOCK8):c.-69T>C http://identifiers.org/clinvar/366325 ^@ NM_003070.4(SMARCA2):c.4725G>A (p.Glu1575=) http://identifiers.org/clinvar/366475 ^@ NM_000459.4(TEK):c.*717T>A http://identifiers.org/clinvar/366975 ^@ NM_203447.3(DOCK8):c.3441C>T (p.Phe1147=) http://identifiers.org/clinvar/367025 ^@ NM_203447.3(DOCK8):c.5296C>T (p.Arg1766Trp) http://identifiers.org/clinvar/340452 ^@ NM_006657.2(FTCD):c.-33C>T http://identifiers.org/clinvar/340502 ^@ NM_006031.5(PCNT):c.5554A>G (p.Met1852Val) http://identifiers.org/clinvar/340603 ^@ NM_014339.6(IL17RA):c.1689C>T (p.Gly563=) http://identifiers.org/clinvar/314514 ^@ NM_013382.5(POMT2):c.*1974G>A http://identifiers.org/clinvar/322199 ^@ NM_015681.4(B9D1):c.90C>T (p.Cys30=) http://identifiers.org/clinvar/322249 ^@ NM_000430.3(PAFAH1B1):c.-325_-320dupGGGCCC http://identifiers.org/clinvar/340753 ^@ NM_017929.5(PEX26):c.230+8C>T http://identifiers.org/clinvar/322299 ^@ NM_000430.3(PAFAH1B1):c.*2140A>G http://identifiers.org/clinvar/340953 ^@ NM_004076.4(CRYBB3):c.313C>T (p.Arg105Trp) http://identifiers.org/clinvar/322449 ^@ NM_003593.2(FOXN1):c.*622C>G http://identifiers.org/clinvar/322499 ^@ NM_178170.2(NEK8):c.*480G>A http://identifiers.org/clinvar/341453 ^@ NM_004737.5(LARGE1):c.-460C>G http://identifiers.org/clinvar/341503 ^@ NM_002473.5(MYH9):c.4348C>T (p.Leu1450=) http://identifiers.org/clinvar/322849 ^@ NM_004937.2(CTNS):c.*129C>T http://identifiers.org/clinvar/323249 ^@ NM_139276.2(STAT3):c.-55C>G http://identifiers.org/clinvar/315853 ^@ NM_144508.4(KNL1):c.2634T>C (p.Tyr878=) http://identifiers.org/clinvar/314014 ^@ NM_031427.3(DNAL1):c.22_24delAAA (p.Lys8del) http://identifiers.org/clinvar/314064 ^@ NM_031427.3(DNAL1):c.*2588G>T http://identifiers.org/clinvar/314264 ^@ NM_000428.2(LTBP2):c.*10dupG http://identifiers.org/clinvar/323938 ^@ NM_018129.3(PNPO):c.*1842A>G http://identifiers.org/clinvar/314314 ^@ NM_000428.2(LTBP2):c.1021+14G>A http://identifiers.org/clinvar/316503 ^@ NM_182758.3(WDR72):c.*2808G>T http://identifiers.org/clinvar/324245 ^@ NM_018488.3(TBX4):c.110C>T (p.Pro37Leu) http://identifiers.org/clinvar/316553 ^@ NM_182758.3(WDR72):c.*1509G>C http://identifiers.org/clinvar/314564 ^@ NM_013382.5(POMT2):c.-64G>A http://identifiers.org/clinvar/324397 ^@ NM_000789.3(ACE):c.2487C>T (p.Tyr829=) http://identifiers.org/clinvar/314614 ^@ NM_004863.3(SPTLC2):c.*2981delT http://identifiers.org/clinvar/314664 ^@ NM_004863.3(SPTLC2):c.1664C>T (p.Thr555Met) http://identifiers.org/clinvar/324547 ^@ NM_000334.4(SCN4A):c.1100+15G>A http://identifiers.org/clinvar/316903 ^@ NM_005902.3(SMAD3):c.*1443C>A http://identifiers.org/clinvar/314864 ^@ NM_006329.3(FBLN5):c.*514A>G http://identifiers.org/clinvar/324747 ^@ NM_031220.3(PITPNM3):c.1899G>A (p.Thr633=) http://identifiers.org/clinvar/317103 ^@ NM_022369.3(STRA6):c.1416G>A (p.Ser472=) http://identifiers.org/clinvar/317303 ^@ NM_002693.2(POLG):c.*438_*441dupATCT http://identifiers.org/clinvar/317354 ^@ NM_198525.2(KIF7):c.2613G>A (p.Glu871=) http://identifiers.org/clinvar/317454 ^@ NM_000875.4(IGF1R):c.2745G>A (p.Ser915=) http://identifiers.org/clinvar/317504 ^@ NM_000875.4(IGF1R):c.*1360T>A http://identifiers.org/clinvar/325748 ^@ NM_017950.3(CCDC40):c.3245G>A (p.Arg1082His) http://identifiers.org/clinvar/316253 ^@ NM_000338.2(SLC12A1):c.355G>A (p.Gly119Ser) http://identifiers.org/clinvar/316403 ^@ NM_014985.3(CEP152):c.*231C>T http://identifiers.org/clinvar/373364 ^@ NM_021007.2(SCN2A):c.2774T>C (p.Met925Thr) http://identifiers.org/clinvar/372502 ^@ NM_020451.2(SELENON):c.1359G>C (p.Trp453Cys) http://identifiers.org/clinvar/373064 ^@ NM_014795.3(ZEB2):c.2908C>T (p.Gln970Ter) http://identifiers.org/clinvar/372445 ^@ NM_145860.1(PDCD10):c.103C>T (p.Arg35Ter) http://identifiers.org/clinvar/372808 ^@ NM_000171.3(GLRA1):c.705C>G (p.Phe235Leu) http://identifiers.org/clinvar/372344 ^@ NM_000094.3(COL7A1):c.6262G>A (p.Gly2088Arg) http://identifiers.org/clinvar/373014 ^@ NM_000720.3(CACNA1D):c.3356C>T (p.Thr1119Met) http://identifiers.org/clinvar/373564 ^@ NM_000087.3(CNGA1):c.323A>G (p.Lys108Arg) http://identifiers.org/clinvar/372912 ^@ NM_004333.4(BRAF):c.1031A>T (p.Gln344Leu) http://identifiers.org/clinvar/373714 ^@ NM_014141.5(CNTNAP2):c.806G>A (p.Ser269Asn) http://identifiers.org/clinvar/372395 ^@ NM_004519.3(KCNQ3):c.2611C>G (p.Pro871Ala) http://identifiers.org/clinvar/373514 ^@ NM_000719.6(CACNA1C):c.130C>G (p.Pro44Ala) http://identifiers.org/clinvar/373164 ^@ NM_015335.4(MED13L):c.4577delC (p.Pro1526Hisfs) http://identifiers.org/clinvar/373114 ^@ NM_006939.3(SOS2):c.800T>C (p.Met267Thr) http://identifiers.org/clinvar/372964 ^@ NM_001009944.2(PKD1):c.11251_11265dupCAGGTGCGGCTGCAG (p.Gln3755_Glu3756insGlnValArgLeuGln) http://identifiers.org/clinvar/372861 ^@ NM_024306.4(FA2H):c.782A>G (p.His261Arg) http://identifiers.org/clinvar/373414 ^@ NM_000512.4(GALNS):c.947G>A (p.Gly316Glu) http://identifiers.org/clinvar/372554 ^@ NM_000138.4(FBN1):c.6119_6120delGT (p.Cys2040Serfs) http://identifiers.org/clinvar/373664 ^@ NM_000548.4(TSC2):c.134_138+1delTGAGAGinsC http://identifiers.org/clinvar/373214 ^@ NM_001605.2(AARS):c.1515G>A (p.Thr505=) http://identifiers.org/clinvar/373614 ^@ NM_000018.3(ACADVL):c.316_325delGTGGAGCCTG (p.Val106Cysfs) http://identifiers.org/clinvar/373314 ^@ NM_015339.4(ADNP):c.539_542delTTAG (p.Val180Glyfs) http://identifiers.org/clinvar/373264 ^@ NM_004006.2(DMD):c.1961T>C (p.Leu654Ser) http://identifiers.org/clinvar/373464 ^@ NM_001039590.2(USP9X):c.5134A>C (p.Lys1712Gln) http://identifiers.org/clinvar/373764 ^@ NM_000444.5(PHEX):c.2070+1G>A http://identifiers.org/clinvar/373864 ^@ NG_005905.2:g.(?_92501)_(102259_111450)del http://identifiers.org/clinvar/374017 ^@ NM_000530.7(MPZ):c.699T>G (p.Ser233Arg) http://identifiers.org/clinvar/374067 ^@ NM_000093.4(COL5A1):c.2903delC (p.Pro968Leufs) http://identifiers.org/clinvar/374117 ^@ NM_001844.4(COL2A1):c.3472G>C (p.Gly1158Arg) http://identifiers.org/clinvar/374167 ^@ NM_000271.4(NPC1):c.2050C>T (p.Leu684Phe) http://identifiers.org/clinvar/373917 ^@ NM_000540.2(RYR1):c.3202T>C (p.Cys1068Arg) http://identifiers.org/clinvar/373967 ^@ NM_001145809.1(MYH14):c.5105T>C (p.Val1702Ala) http://identifiers.org/clinvar/374975 ^@ NM_000540.2(RYR1):c.15073G>A (p.Ala5025Thr) http://identifiers.org/clinvar/375250 ^@ NM_000051.3(ATM):c.497-1G>A http://identifiers.org/clinvar/375308 ^@ NM_172364.4(CACNA2D4):c.1720-74_2551+1189delinsTG http://identifiers.org/clinvar/375361 ^@ NM_000520.5(HEXA):c.1259G>A (p.Trp420Ter) http://identifiers.org/clinvar/375412 ^@ NM_001144878.1(IMPA1):c.666_670dupGGGCT (p.Ser224Trpfs) http://identifiers.org/clinvar/375474 ^@ NM_000286.2(PEX12):c.765_766dupAT (p.Phe256Tyrfs) http://identifiers.org/clinvar/375535 ^@ NM_000833.4(GRIN2A):c.2966A>G (p.Asn989Ser) http://identifiers.org/clinvar/375599 ^@ NM_004752.3(GCM2):c.751C>G (p.Gln251Glu) http://identifiers.org/clinvar/375653 ^@ NM_000015.2(NAT2):c.282C>T (p.Tyr94=) http://identifiers.org/clinvar/375744 ^@ NM_000517.4(HBA2):c.94_95delAG (p.Arg32AspfsTer24) http://identifiers.org/clinvar/375847 ^@ NM_174936.3(PCSK9):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/375797 ^@ NM_000527.4(LDLR):c.706T>G (p.Cys236Gly) http://identifiers.org/clinvar/375900 ^@ NM_006218.3(PIK3CA):c.1645G>A (p.Asp549Asn) http://identifiers.org/clinvar/378159 ^@ NM_000179.2(MSH6):c.-19G>C http://identifiers.org/clinvar/392932 ^@ NM_014049.4(ACAD9):c.30C>T (p.Thr10=) http://identifiers.org/clinvar/391243 ^@ NM_178862.2(STT3B):c.1172+15A>G http://identifiers.org/clinvar/393232 ^@ NM_014382.3(ATP2C1):c.544T>C (p.Ser182Pro) http://identifiers.org/clinvar/392732 ^@ NM_015662.2(IFT172):c.915A>G (p.Thr305=) http://identifiers.org/clinvar/389893 ^@ NM_198056.2(SCN5A):c.4245+19G>C http://identifiers.org/clinvar/381010 ^@ NM_000251.2(MSH2):c.1276+18T>G http://identifiers.org/clinvar/380809 ^@ NM_024582.4(FAT4):c.13617G>A (p.Glu4539=) http://identifiers.org/clinvar/381110 ^@ NM_005506.3(SCARB2):c.897A>G (p.Ala299=) http://identifiers.org/clinvar/378917 ^@ NM_001148.4(ANK2):c.3507T>C (p.Gly1169=) http://identifiers.org/clinvar/393132 ^@ NM_001148.4(ANK2):c.7396C>T (p.Arg2466Cys) http://identifiers.org/clinvar/380257 ^@ NM_152778.2(MFSD8):c.342C>T (p.Ser114=) http://identifiers.org/clinvar/380057 ^@ NM_002887.3(RARS):c.1874-10A>G http://identifiers.org/clinvar/379167 ^@ NM_022455.4(NSD1):c.34T>C (p.Cys12Arg) http://identifiers.org/clinvar/388004 ^@ NM_021911.2(GABRB2):c.-153+3G>A http://identifiers.org/clinvar/387704 ^@ NM_133433.3(NIPBL):c.3139G>T (p.Val1047Leu) http://identifiers.org/clinvar/391193 ^@ NM_032861.3(SERAC1):c.493C>T (p.Gln165Ter) http://identifiers.org/clinvar/387454 ^@ NM_013391.3(DMGDH):c.1815-5C>T http://identifiers.org/clinvar/392232 ^@ NM_014244.4(ADAMTS2):c.110C>T (p.Ala37Val) http://identifiers.org/clinvar/384204 ^@ NM_183050.3(BCKDHB):c.447T>C (p.Phe149=) http://identifiers.org/clinvar/380157 ^@ NM_001167734.1(VARS2):c.2128G>T (p.Val710Leu) http://identifiers.org/clinvar/377557 ^@ NM_183050.3(BCKDHB):c.122C>T (p.Thr41Ile) http://identifiers.org/clinvar/390393 ^@ NM_000089.3(COL1A2):c.2349+16G>C http://identifiers.org/clinvar/392532 ^@ NM_004519.3(KCNQ3):c.567C>T (p.Gly189=) http://identifiers.org/clinvar/379417 ^@ NM_006904.6(PRKDC):c.5571+5C>T http://identifiers.org/clinvar/383703 ^@ NM_002485.4(NBN):c.1932G>A (p.Gln644=) http://identifiers.org/clinvar/390043 ^@ NM_000445.4(PLEC):c.9108C>T (p.Asp3036=) http://identifiers.org/clinvar/379017 ^@ NM_000535.6(PMS2):c.2334C>T (p.Phe778=) http://identifiers.org/clinvar/378665 ^@ NM_001130438.2(SPTAN1):c.6762+10C>T http://identifiers.org/clinvar/384104 ^@ NM_001098511.2(KIF2A):c.226C>A (p.Pro76Thr) http://identifiers.org/clinvar/378309 ^@ NM_002538.3(OCLN):c.-86C>T http://identifiers.org/clinvar/392432 ^@ NM_018972.2(GDAP1):c.586C>G (p.Leu196Val) http://identifiers.org/clinvar/390243 ^@ NM_000368.4(TSC1):c.2208+17G>A http://identifiers.org/clinvar/388354 ^@ NM_018368.3(LMBRD1):c.759A>G (p.Ser253=) http://identifiers.org/clinvar/133007 ^@ NM_000540.2(RYR1):c.1122+44C>T http://identifiers.org/clinvar/133057 ^@ NM_000540.2(RYR1):c.14051T>C (p.Phe4684Ser) http://identifiers.org/clinvar/133107 ^@ NM_000540.2(RYR1):c.1672+29G>C http://identifiers.org/clinvar/133550 ^@ NM_006015.4(ARID1A):c.4615G>T (p.Ala1539Ser) http://identifiers.org/clinvar/133600 ^@ NM_015338.5(ASXL1):c.683C>T (p.Ala228Val) http://identifiers.org/clinvar/134597 ^@ NM_021140.3(KDM6A):c.2177C>A (p.Thr726Lys) http://identifiers.org/clinvar/134648 ^@ NM_001127500.2(MET):c.1171G>A (p.Gly391Arg) http://identifiers.org/clinvar/134699 ^@ NM_003482.3(KMT2D):c.6445T>C (p.Ser2149Pro) http://identifiers.org/clinvar/134750 ^@ NM_170606.2(KMT2C):c.4592C>T (p.Ala1531Val) http://identifiers.org/clinvar/134800 ^@ NM_170606.2(KMT2C):c.11242G>A (p.Ala3748Thr) http://identifiers.org/clinvar/134852 ^@ NM_000179.2(MSH6):c.1730G>A (p.Arg577His) http://identifiers.org/clinvar/134904 ^@ NM_006164.4(NFE2L2):c.925C>T (p.Leu309Phe) http://identifiers.org/clinvar/134954 ^@ NM_017617.4(NOTCH1):c.6853G>A (p.Val2285Ile) http://identifiers.org/clinvar/135004 ^@ NM_016734.2(PAX5):c.1029G>A (p.Gly343=) http://identifiers.org/clinvar/135054 ^@ NM_000534.4(PMS1):c.1501G>A (p.Gly501Arg) http://identifiers.org/clinvar/135105 ^@ NM_000264.3(PTCH1):c.4162G>A (p.Gly1388Arg) http://identifiers.org/clinvar/135156 ^@ NM_004260.3(RECQL4):c.3521C>T (p.Ala1174Val) http://identifiers.org/clinvar/135237 ^@ NM_014159.6(SETD2):c.2450T>C (p.Met817Thr) http://identifiers.org/clinvar/135288 ^@ NM_001127208.2(TET2):c.5284A>T (p.Ile1762Leu) http://identifiers.org/clinvar/135338 ^@ NM_006290.3(TNFAIP3):c.1634C>T (p.Ala545Val) http://identifiers.org/clinvar/135388 ^@ NM_000548.4(TSC2):c.4465G>A (p.Ala1489Thr) http://identifiers.org/clinvar/135439 ^@ NM_000553.4(WRN):c.4127C>T (p.Pro1376Leu) http://identifiers.org/clinvar/135489 ^@ NM_004628.4(XPC):c.1475G>A (p.Arg492His) http://identifiers.org/clinvar/135539 ^@ NM_000135.2(FANCA):c.3934+74C>G http://identifiers.org/clinvar/135603 ^@ NM_002136.3(HNRNPA1):c.884A>G (p.Tyr295Cys) http://identifiers.org/clinvar/135665 ^@ NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) http://identifiers.org/clinvar/135725 ^@ NM_000038.5(APC):c.836G>T (p.Gly279Val) http://identifiers.org/clinvar/135776 ^@ NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) http://identifiers.org/clinvar/135834 ^@ NM_000179.2(MSH6):c.227T>C (p.Leu76Pro) http://identifiers.org/clinvar/135884 ^@ NM_000264.3(PTCH1):c.2859C>T (p.Ala953=) http://identifiers.org/clinvar/135934 ^@ NM_000535.6(PMS2):c.1357A>G (p.Met453Val) http://identifiers.org/clinvar/135986 ^@ NM_001128425.1(MUTYH):c.313G>A (p.Asp105Asn) http://identifiers.org/clinvar/136036 ^@ NM_002485.4(NBN):c.1362C>T (p.Ser454=) http://identifiers.org/clinvar/136087 ^@ NM_007294.3(BRCA1):c.506A>C (p.Gln169Pro) http://identifiers.org/clinvar/136137 ^@ NM_024675.3(PALB2):c.3366C>T (p.Asp1122=) http://identifiers.org/clinvar/185789 ^@ NM_001042492.2(NF1):c.7348C>T (p.Arg2450Ter) http://identifiers.org/clinvar/187680 ^@ NM_002878.3(RAD51D):c.268G>A (p.Asp90Asn) http://identifiers.org/clinvar/186089 ^@ NM_002878.3(RAD51D):c.16G>A (p.Val6Ile) http://identifiers.org/clinvar/186289 ^@ NM_007294.3(BRCA1):c.5334T>C (p.Asp1778=) http://identifiers.org/clinvar/185689 ^@ NM_007294.3(BRCA1):c.1419C>T (p.Asn473=) http://identifiers.org/clinvar/186189 ^@ NM_032043.2(BRIP1):c.1941G>T (p.Trp647Cys) http://identifiers.org/clinvar/185439 ^@ NM_032043.2(BRIP1):c.1485T>G (p.Ser495=) http://identifiers.org/clinvar/183849 ^@ NM_000546.5(TP53):c.891C>T (p.His297=) http://identifiers.org/clinvar/183699 ^@ NM_005359.5(SMAD4):c.102A>G (p.Thr34=) http://identifiers.org/clinvar/185189 ^@ NM_005359.5(SMAD4):c.1046C>T (p.Thr349Ile) http://identifiers.org/clinvar/184000 ^@ NM_000455.4(STK11):c.630C>T (p.Cys210=) http://identifiers.org/clinvar/184200 ^@ NM_000455.4(STK11):c.1299G>A (p.Gln433=) http://identifiers.org/clinvar/187784 ^@ NM_030813.5(CLPB):c.1850A>G (p.Tyr617Cys) http://identifiers.org/clinvar/187863 ^@ NM_003680.3(YARS):c.241_242delGAinsAT (p.Asp81Ile) http://identifiers.org/clinvar/187913 ^@ NM_004409.4(DMPK):c.*224_*226[1189] http://identifiers.org/clinvar/187963 ^@ NM_004409.4(DMPK):c.*224_*226[351] http://identifiers.org/clinvar/188013 ^@ NM_004409.4(DMPK):c.*224_*226[609] http://identifiers.org/clinvar/188216 ^@ NM_000179.2(MSH6):c.631G>A (p.Gly211Ser) http://identifiers.org/clinvar/188375 ^@ NM_000038.5(APC):c.3314G>A (p.Arg1105Gln) http://identifiers.org/clinvar/188063 ^@ NM_000038.5(APC):c.6196A>G (p.Arg2066Gly) http://identifiers.org/clinvar/188114 ^@ NM_000264.3(PTCH1):c.324A>G (p.Ile108Met) http://identifiers.org/clinvar/188270 ^@ NM_004329.2(BMPR1A):c.243_247delTTGCT (p.Phe83Hisfs) http://identifiers.org/clinvar/188322 ^@ NM_024675.3(PALB2):c.1241G>A (p.Arg414Gln) http://identifiers.org/clinvar/188165 ^@ NM_007294.3(BRCA1):c.5275_5276delAAinsTG (p.Lys1759Trp) http://identifiers.org/clinvar/188683 ^@ NM_001001430.2(TNNT2):c.318C>G (p.Ile106Met) http://identifiers.org/clinvar/188583 ^@ NM_000256.3(MYBPC3):c.3486A>T (p.Arg1162Ser) http://identifiers.org/clinvar/188533 ^@ NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) http://identifiers.org/clinvar/188433 ^@ NM_000059.3(BRCA2):c.6017G>C (p.Ser2006Thr) http://identifiers.org/clinvar/188633 ^@ NM_000257.3(MYH7):c.4215G>A (p.Glu1405=) http://identifiers.org/clinvar/188483 ^@ NM_000152.4(GAA):c.2092G>A (p.Ala698Thr) http://identifiers.org/clinvar/188934 ^@ NM_000016.5(ACADM):c.244dupT (p.Trp82Leufs) http://identifiers.org/clinvar/189035 ^@ NM_000030.2(AGXT):c.737G>A (p.Trp246Ter) http://identifiers.org/clinvar/188783 ^@ NM_000492.3(CFTR):c.3368-2A>G http://identifiers.org/clinvar/188984 ^@ NM_000466.2(PEX1):c.1716_1717delCA (p.His572Glnfs) http://identifiers.org/clinvar/188833 ^@ NM_000382.2(ALDH3A2):c.28C>T (p.Gln10Ter) http://identifiers.org/clinvar/188733 ^@ NM_000023.3(SGCA):c.371T>C (p.Ile124Thr) http://identifiers.org/clinvar/188884 ^@ NM_000018.3(ACADVL):c.685C>T (p.Arg229Ter) http://identifiers.org/clinvar/189898 ^@ NM_001165963.1(SCN1A):c.5349_5352dupGGTC (p.Ile1785Glyfs) http://identifiers.org/clinvar/189948 ^@ NM_001165963.1(SCN1A):c.4823delA (p.Asp1608Valfs) http://identifiers.org/clinvar/189998 ^@ NM_001165963.1(SCN1A):c.4766T>G (p.Val1589Gly) http://identifiers.org/clinvar/189848 ^@ NM_001165963.1(SCN1A):c.1624C>T (p.Arg542Ter) http://identifiers.org/clinvar/190119 ^@ NM_002143.2(HPCA):c.212C>A (p.Thr71Asn) http://identifiers.org/clinvar/190183 ^@ NM_001110556.1(FLNA):c.1722T>A (p.Cys574Ter) http://identifiers.org/clinvar/190234 ^@ NM_006129.4(BMP1):c.1297G>T (p.Ala433Ser) http://identifiers.org/clinvar/190315 ^@ NM_153816.2(SNX14):c.1108+1181_2108-2342del http://identifiers.org/clinvar/190457 ^@ NM_001164507.1(NEB):c.21076C>T (p.Arg7026Ter) http://identifiers.org/clinvar/227007 ^@ NM_033056.3(PCDH15):c.1917+33_1917+34dupGT http://identifiers.org/clinvar/226907 ^@ NM_001277269.1(OTOG):c.7366G>A (p.Gly2456Ser) http://identifiers.org/clinvar/227459 ^@ NM_000218.2(KCNQ1):c.1173C>T (p.Thr391=) http://identifiers.org/clinvar/227058 ^@ NM_001038.5(SCNN1A):c.-28T>C http://identifiers.org/clinvar/226957 ^@ NM_173591.3(OTOGL):c.5518A>G (p.Ile1840Val) http://identifiers.org/clinvar/226807 ^@ NM_003803.3(MYOM1):c.1890G>A (p.Glu630=) http://identifiers.org/clinvar/227509 ^@ NM_144612.6(LOXHD1):c.1170G>A (p.Gln390=) http://identifiers.org/clinvar/226657 ^@ NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) http://identifiers.org/clinvar/227309 ^@ NM_004006.2(DMD):c.7244G>A (p.Arg2415His) http://identifiers.org/clinvar/234294 ^@ NM_004895.4(NLRP3):c.2993G>C (p.Cys998Ser) http://identifiers.org/clinvar/234466 ^@ NM_000249.3(MLH1):c.1490G>A (p.Arg497Gln) http://identifiers.org/clinvar/234618 ^@ NM_000535.6(PMS2):c.632G>T (p.Arg211Leu) http://identifiers.org/clinvar/234568 ^@ NM_000136.2(FANCC):c.-81C>G http://identifiers.org/clinvar/234668 ^@ NM_000834.3(GRIN2B):c.2002G>T (p.Asp668Tyr) http://identifiers.org/clinvar/234346 ^@ NM_000243.2(MEFV):c.18T>A (p.Ser6Arg) http://identifiers.org/clinvar/234517 ^@ NM_014646.2(LPIN2):c.1745C>T (p.Pro582Leu) http://identifiers.org/clinvar/234416 ^@ NM_000455.4(STK11):c.179dupA (p.Tyr60Terfs) http://identifiers.org/clinvar/231491 ^@ NM_001128425.1(MUTYH):c.647G>A (p.Gly216Glu) http://identifiers.org/clinvar/231091 ^@ NM_000251.2(MSH2):c.-68-14G>C http://identifiers.org/clinvar/231691 ^@ NM_000179.2(MSH6):c.3277G>A (p.Gly1093Arg) http://identifiers.org/clinvar/234084 ^@ NM_000249.3(MLH1):c.224T>C (p.Ile75Thr) http://identifiers.org/clinvar/233984 ^@ NM_000249.3(MLH1):c.933G>T (p.Lys311Asn) http://identifiers.org/clinvar/231291 ^@ NM_000249.3(MLH1):c.1036delC (p.Gln346Argfs) http://identifiers.org/clinvar/233884 ^@ NM_000249.3(MLH1):c.1511C>G (p.Thr504Ser) http://identifiers.org/clinvar/264903 ^@ NM_000059.3(BRCA2):c.9257-6901C>T http://identifiers.org/clinvar/264803 ^@ NM_007294.3(BRCA1):c.5193+2582G>A http://identifiers.org/clinvar/264853 ^@ NM_007294.3(BRCA1):c.4186-2187C>T http://identifiers.org/clinvar/265942 ^@ NM_174936.3(PCSK9):c.1181-39C>T http://identifiers.org/clinvar/265892 ^@ NM_000384.2(APOB):c.10679A>G (p.Tyr3560Cys) http://identifiers.org/clinvar/265997 ^@ NM_000350.2(ABCA4):c.5333T>A (p.Met1778Lys) http://identifiers.org/clinvar/266074 ^@ NM_024715.3(TXNDC15):c.672_686delCAGTTTGGCCCCTCA (p.Ser225_His229del) http://identifiers.org/clinvar/266124 ^@ NM_001273.3(CHD4):c.3203G>A (p.Arg1068His) http://identifiers.org/clinvar/266824 ^@ NM_000059.3(BRCA2):c.466_467delGA (p.Asp156Terfs) http://identifiers.org/clinvar/266624 ^@ NM_000059.3(BRCA2):c.1286T>G (p.Leu429Ter) http://identifiers.org/clinvar/266674 ^@ NM_000059.3(BRCA2):c.2025_2026delAT (p.Cys676Phefs) http://identifiers.org/clinvar/266724 ^@ NM_000059.3(BRCA2):c.2858delA (p.Glu953Glyfs) http://identifiers.org/clinvar/266774 ^@ NM_000059.3(BRCA2):c.3814_3815insC (p.Met1272Thrfs) http://identifiers.org/clinvar/266874 ^@ NM_000059.3(BRCA2):c.5353dupA (p.Thr1785Asnfs) http://identifiers.org/clinvar/266924 ^@ NM_000059.3(BRCA2):c.6129delA (p.Gly2044Alafs) http://identifiers.org/clinvar/266974 ^@ NM_000059.3(BRCA2):c.6753_6754delTT (p.Leu2253Phefs) http://identifiers.org/clinvar/267024 ^@ NM_000059.3(BRCA2):c.7615C>T (p.Gln2539Ter) http://identifiers.org/clinvar/267074 ^@ NM_000059.3(BRCA2):c.8347delA (p.Thr2783Leufs) http://identifiers.org/clinvar/267124 ^@ NM_000059.3(BRCA2):c.8959_8962delCTGA (p.Leu2987Valfs) http://identifiers.org/clinvar/267174 ^@ NM_000059.3(BRCA2):c.9836T>A (p.Leu3279Ter) http://identifiers.org/clinvar/266524 ^@ NM_007294.3(BRCA1):c.5114_5121delTAGGAATT (p.Leu1705Argfs) http://identifiers.org/clinvar/266474 ^@ NM_007294.3(BRCA1):c.4397_4398insA (p.Ser1466Argfs) http://identifiers.org/clinvar/266424 ^@ NM_007294.3(BRCA1):c.3972_3974delGAGinsAA (p.Met1324Ilefs) http://identifiers.org/clinvar/266374 ^@ NM_007294.3(BRCA1):c.3482_3492delAAGATACTAGT (p.Glu1161Valfs) http://identifiers.org/clinvar/266324 ^@ NM_007294.3(BRCA1):c.2970delT (p.Thr992Leufs) http://identifiers.org/clinvar/266274 ^@ NM_007294.3(BRCA1):c.2529_2530delAA (p.Ser844Hisfs) http://identifiers.org/clinvar/266224 ^@ NM_007294.3(BRCA1):c.2138_2139dupCA (p.Asn714Glnfs) http://identifiers.org/clinvar/266174 ^@ NM_007294.3(BRCA1):c.1575delT (p.Gln526Lysfs) http://identifiers.org/clinvar/266574 ^@ NM_007294.3(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244Valfs) http://identifiers.org/clinvar/268184 ^@ NC_000023.10:g.(?_147030199)_(147046357_?)del http://identifiers.org/clinvar/279596 ^@ NM_000297.3(PKD2):c.1320G>A (p.Arg440=) http://identifiers.org/clinvar/279755 ^@ NM_004284.5(CHD1L):c.834A>G (p.Ile278Met) http://identifiers.org/clinvar/290903 ^@ NM_015102.4(NPHP4):c.2142T>A (p.Ala714=) http://identifiers.org/clinvar/290953 ^@ NM_022436.2(ABCG5):c.1744G>A (p.Gly582Arg) http://identifiers.org/clinvar/291003 ^@ NM_019098.4(CNGB3):c.1510A>G (p.Thr504Ala) http://identifiers.org/clinvar/291053 ^@ NM_153240.4(NPHP3):c.1533A>T (p.Gln511His) http://identifiers.org/clinvar/291103 ^@ NM_015102.4(NPHP4):c.2653A>C (p.Ser885Arg) http://identifiers.org/clinvar/291153 ^@ NM_001079867.1(PEX2):c.477G>A (p.Gln159=) http://identifiers.org/clinvar/291204 ^@ NM_006282.3(STK4):c.1004G>A (p.Gly335Asp) http://identifiers.org/clinvar/291254 ^@ NM_144577.3(CCDC114):c.250-10T>C http://identifiers.org/clinvar/291319 ^@ NM_004551.2(NDUFS3):c.204C>G (p.Ile68Met) http://identifiers.org/clinvar/291419 ^@ NM_001918.3(DBT):c.*3652G>C http://identifiers.org/clinvar/291469 ^@ NM_015074.3(KIF1B):c.364-15A>G http://identifiers.org/clinvar/291519 ^@ NM_001854.3(COL11A1):c.3229C>A (p.Pro1077Thr) http://identifiers.org/clinvar/291569 ^@ NM_015074.3(KIF1B):c.3285-15A>T http://identifiers.org/clinvar/291661 ^@ NM_015074.3(KIF1B):c.*4296T>C http://identifiers.org/clinvar/291911 ^@ NM_003051.3(SLC16A1):c.-87C>T http://identifiers.org/clinvar/291961 ^@ NM_002524.4(NRAS):c.*2178G>A http://identifiers.org/clinvar/292061 ^@ NM_138959.2(VANGL1):c.*3023G>T http://identifiers.org/clinvar/291711 ^@ NM_013296.4(GPSM2):c.*211G>A http://identifiers.org/clinvar/291811 ^@ NM_006610.3(MASP2):c.231C>T (p.Val77=) http://identifiers.org/clinvar/291761 ^@ NM_007375.3(TARDBP):c.*2154G>T http://identifiers.org/clinvar/292261 ^@ NM_000198.3(HSD3B2):c.510G>C (p.Gly170=) http://identifiers.org/clinvar/291861 ^@ NM_003051.3(SLC16A1):c.979C>T (p.Pro327Ser) http://identifiers.org/clinvar/292461 ^@ NM_005267.4(GJA8):c.-24A>G http://identifiers.org/clinvar/292011 ^@ NM_138959.2(VANGL1):c.1040A>C (p.Glu347Ala) http://identifiers.org/clinvar/292511 ^@ NM_004698.2(PRPF3):c.*209T>C http://identifiers.org/clinvar/292211 ^@ NM_005957.4(MTHFR):c.*1234T>G http://identifiers.org/clinvar/292561 ^@ NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val) http://identifiers.org/clinvar/292611 ^@ NM_000449.3(RFX5):c.1236A>G (p.Thr412=) http://identifiers.org/clinvar/292311 ^@ NM_000302.3(PLOD1):c.1686G>A (p.Thr562=) http://identifiers.org/clinvar/292361 ^@ NM_000302.3(PLOD1):c.*721T>G http://identifiers.org/clinvar/292661 ^@ NM_152263.3(TPM3):c.*2409G>C http://identifiers.org/clinvar/292411 ^@ NM_014874.3(MFN2):c.*1640delA http://identifiers.org/clinvar/292911 ^@ NM_007272.2(CTRC):c.615C>T (p.Gly205=) http://identifiers.org/clinvar/292111 ^@ NM_138959.2(VANGL1):c.*6640G>A http://identifiers.org/clinvar/292161 ^@ NM_005957.4(MTHFR):c.*4267T>A http://identifiers.org/clinvar/292861 ^@ NM_022367.3(SEMA4A):c.*179C>T http://identifiers.org/clinvar/293011 ^@ NM_003126.2(SPTA1):c.2520G>C (p.Glu840Asp) http://identifiers.org/clinvar/292711 ^@ NM_001111.4(ADAR):c.*2623C>T http://identifiers.org/clinvar/292761 ^@ NM_001111.4(ADAR):c.3289C>A (p.His1097Asn) http://identifiers.org/clinvar/292811 ^@ NM_000298.5(PKLR):c.909G>C (p.Pro303=) http://identifiers.org/clinvar/292961 ^@ NM_003126.2(SPTA1):c.5911-17_5911-8delCTCCTGATCT http://identifiers.org/clinvar/293061 ^@ NM_003126.2(SPTA1):c.25G>T (p.Val9Phe) http://identifiers.org/clinvar/293700 ^@ NM_006894.5(FMO3):c.*364C>T http://identifiers.org/clinvar/293950 ^@ NM_002065.6(GLUL):c.-60G>T http://identifiers.org/clinvar/294000 ^@ NM_005562.2(LAMC2):c.1066A>G (p.Ser356Gly) http://identifiers.org/clinvar/293850 ^@ NM_014625.3(NPHS2):c.274+14A>G http://identifiers.org/clinvar/293900 ^@ NM_002065.6(GLUL):c.*1919A>G http://identifiers.org/clinvar/294050 ^@ NM_005562.2(LAMC2):c.*1244C>G http://identifiers.org/clinvar/294150 ^@ NM_031935.2(HMCN1):c.4499A>G (p.Asn1500Ser) http://identifiers.org/clinvar/294300 ^@ NM_031935.2(HMCN1):c.15834T>C (p.Asp5278=) http://identifiers.org/clinvar/294350 ^@ NM_003748.3(ALDH4A1):c.*646G>A http://identifiers.org/clinvar/294400 ^@ NM_003748.3(ALDH4A1):c.-39G>T http://identifiers.org/clinvar/293800 ^@ NM_022089.3(ATP13A2):c.1065G>A (p.Thr355=) http://identifiers.org/clinvar/293750 ^@ NM_000639.2(FASLG):c.*600G>T http://identifiers.org/clinvar/343342 ^@ NM_014382.3(ATP2C1):c.*998C>T http://identifiers.org/clinvar/336266 ^@ NM_001430.4(EPAS1):c.1737G>A (p.Pro579=) http://identifiers.org/clinvar/343392 ^@ NM_153240.4(NPHP3):c.332C>T (p.Ser111Phe) http://identifiers.org/clinvar/335916 ^@ NM_000104.3(CYP1B1):c.*2158T>C http://identifiers.org/clinvar/336316 ^@ NM_001430.4(EPAS1):c.*1373C>A http://identifiers.org/clinvar/336573 ^@ NM_001135659.2(NRXN1):c.-813A>G http://identifiers.org/clinvar/336623 ^@ NM_001039348.2(EFEMP1):c.963C>T (p.Pro321=) http://identifiers.org/clinvar/336773 ^@ NM_015910.5(WDPCP):c.-109G>C http://identifiers.org/clinvar/336823 ^@ NM_002056.3(GFPT1):c.*3065G>A http://identifiers.org/clinvar/336873 ^@ NM_002056.3(GFPT1):c.2002-11delT http://identifiers.org/clinvar/336973 ^@ NM_003494.3(DYSF):c.4491G>T (p.Lys1497Asn) http://identifiers.org/clinvar/337023 ^@ NM_015120.4(ALMS1):c.7265A>G (p.Asp2422Gly) http://identifiers.org/clinvar/346591 ^@ NM_032682.5(FOXP1):c.*2237G>A http://identifiers.org/clinvar/346691 ^@ NM_002942.4(ROBO2):c.1849+8C>G http://identifiers.org/clinvar/342492 ^@ NM_000551.3(VHL):c.*2988G>A http://identifiers.org/clinvar/347241 ^@ NM_001963.5(EGF):c.1977C>T (p.Cys659=) http://identifiers.org/clinvar/342692 ^@ NM_020754.3(ARHGAP31):c.*1176T>G http://identifiers.org/clinvar/347391 ^@ NM_003619.3(PRSS12):c.2535C>T (p.Ser845=) http://identifiers.org/clinvar/347491 ^@ NM_176824.2(BBS7):c.-133C>G http://identifiers.org/clinvar/347541 ^@ NM_152778.2(MFSD8):c.1205C>T (p.Ser402Leu) http://identifiers.org/clinvar/342892 ^@ NM_053025.3(MYLK):c.2124C>T (p.Ala708=) http://identifiers.org/clinvar/346291 ^@ NM_001457.3(FLNB):c.-107T>G http://identifiers.org/clinvar/346441 ^@ NM_198859.3(PRICKLE2):c.*2447G>A http://identifiers.org/clinvar/343442 ^@ NM_001063.3(TF):c.1107C>T (p.His369=) http://identifiers.org/clinvar/346541 ^@ NM_000248.3(MITF):c.*2753T>C http://identifiers.org/clinvar/343592 ^@ NM_001184.3(ATR):c.6221+3G>A http://identifiers.org/clinvar/348130 ^@ NM_012224.2(NEK1):c.-566C>T http://identifiers.org/clinvar/346641 ^@ NM_032682.5(FOXP1):c.1890-15G>T http://identifiers.org/clinvar/343492 ^@ NM_020191.2(MRPS22):c.1045T>A (p.Tyr349Asn) http://identifiers.org/clinvar/343692 ^@ NM_032383.4(HPS3):c.571G>A (p.Val191Ile) http://identifiers.org/clinvar/348280 ^@ NM_001151.3(SLC25A4):c.*2782G>A http://identifiers.org/clinvar/343542 ^@ NM_024334.2(TMEM43):c.*1700G>T http://identifiers.org/clinvar/346841 ^@ NM_000306.3(POU1F1):c.604+9T>C http://identifiers.org/clinvar/353608 ^@ NM_002310.5(LIFR):c.2934G>A (p.Gln978=) http://identifiers.org/clinvar/362046 ^@ NM_006096.3(NDRG1):c.-123T>G http://identifiers.org/clinvar/353808 ^@ NM_002203.3(ITGA2):c.*1749T>C http://identifiers.org/clinvar/362146 ^@ NM_000497.3(CYP11B1):c.1399-14G>C http://identifiers.org/clinvar/353858 ^@ NM_002203.3(ITGA2):c.*3820T>C http://identifiers.org/clinvar/353908 ^@ NM_001104631.1(PDE4D):c.*5295G>T http://identifiers.org/clinvar/353958 ^@ NM_001104631.1(PDE4D):c.*1649C>T http://identifiers.org/clinvar/362346 ^@ NM_006765.3(TUSC3):c.*2368dupA http://identifiers.org/clinvar/354358 ^@ NM_002454.2(MTRR):c.876C>T (p.Thr292=) http://identifiers.org/clinvar/358597 ^@ NM_014491.3(FOXP2):c.-222C>A http://identifiers.org/clinvar/354158 ^@ NM_003719.3(PDE8B):c.1267A>G (p.Ile423Val) http://identifiers.org/clinvar/354208 ^@ NM_003719.3(PDE8B):c.*1213C>T http://identifiers.org/clinvar/354508 ^@ NM_002890.2(RASA1):c.351C>T (p.Thr117=) http://identifiers.org/clinvar/354458 ^@ NM_004385.4(VCAN):c.8362A>G (p.Met2788Val) http://identifiers.org/clinvar/362846 ^@ NM_000349.2(STAR):c.466-5G>A http://identifiers.org/clinvar/354558 ^@ NM_002397.4(MEF2C):c.*3127G>A http://identifiers.org/clinvar/359097 ^@ NM_000083.2(CLCN1):c.369T>C (p.Leu123=) http://identifiers.org/clinvar/359397 ^@ NM_022458.3(LMBR1):c.*1534A>G http://identifiers.org/clinvar/359497 ^@ NM_001101426.3(ISPD):c.*3254C>G http://identifiers.org/clinvar/359547 ^@ NM_001101426.3(ISPD):c.*2148T>C http://identifiers.org/clinvar/359647 ^@ NM_001277115.1(DNAH11):c.6717A>G (p.Ser2239=) http://identifiers.org/clinvar/359697 ^@ NM_001277115.1(DNAH11):c.13309C>T (p.Arg4437Cys) http://identifiers.org/clinvar/363885 ^@ NM_019098.4(CNGB3):c.241G>A (p.Asp81Asn) http://identifiers.org/clinvar/364035 ^@ NM_001001557.3(GDF6):c.*268G>C http://identifiers.org/clinvar/361086 ^@ NM_017890.4(VPS13B):c.10018G>T (p.Val3340Phe) http://identifiers.org/clinvar/360197 ^@ NM_000168.5(GLI3):c.*1027C>T http://identifiers.org/clinvar/364535 ^@ NM_003640.4(IKBKAP):c.*1352A>G http://identifiers.org/clinvar/364885 ^@ NM_002316.3(LMX1B):c.742-7G>C http://identifiers.org/clinvar/361136 ^@ NM_015713.4(RRM2B):c.*2960G>A http://identifiers.org/clinvar/361437 ^@ NM_178857.5(RP1L1):c.-123C>G http://identifiers.org/clinvar/361545 ^@ NM_014112.4(TRPS1):c.*3789G>A http://identifiers.org/clinvar/367125 ^@ NM_004972.3(JAK2):c.1326+15C>G http://identifiers.org/clinvar/311125 ^@ NM_001846.3(COL4A2):c.1339+14A>G http://identifiers.org/clinvar/311175 ^@ NM_001846.3(COL4A2):c.4255A>G (p.Met1419Val) http://identifiers.org/clinvar/311275 ^@ NM_000504.3(F10):c.574G>A (p.Gly192Arg) http://identifiers.org/clinvar/303327 ^@ NM_152722.4(HEPACAM):c.862C>T (p.Arg288Cys) http://identifiers.org/clinvar/311475 ^@ NM_002010.2(FGF9):c.*2965C>T http://identifiers.org/clinvar/303427 ^@ NM_016952.4(CDON):c.*2376_*2377insCATATA http://identifiers.org/clinvar/311525 ^@ NM_014363.5(SACS):c.7535A>G (p.Asn2512Ser) http://identifiers.org/clinvar/366875 ^@ NM_016042.3(EXOSC3):c.*354C>G http://identifiers.org/clinvar/311575 ^@ NM_014363.5(SACS):c.-59C>A http://identifiers.org/clinvar/366925 ^@ NM_001042413.1(GLIS3):c.*1832A>G http://identifiers.org/clinvar/311675 ^@ NM_000059.3(BRCA2):c.*753C>T http://identifiers.org/clinvar/303577 ^@ NM_000220.4(KCNJ1):c.74G>A (p.Arg25Gln) http://identifiers.org/clinvar/311725 ^@ NM_004795.3(KL):c.*1372T>A http://identifiers.org/clinvar/311825 ^@ NM_001127217.2(SMAD9):c.*3560T>C http://identifiers.org/clinvar/311925 ^@ NM_001127217.2(SMAD9):c.-328G>T http://identifiers.org/clinvar/367175 ^@ NM_000170.2(GLDC):c.2748G>A (p.Leu916=) http://identifiers.org/clinvar/312025 ^@ NM_207361.5(FREM2):c.8196C>T (p.Ser2732=) http://identifiers.org/clinvar/364135 ^@ NM_004612.3(TGFBR1):c.*2095T>G http://identifiers.org/clinvar/298599 ^@ NM_016169.3(SUFU):c.*2157C>T http://identifiers.org/clinvar/312325 ^@ NM_024570.3(RNASEH2B):c.-181G>A http://identifiers.org/clinvar/304266 ^@ NM_000218.2(KCNQ1):c.*897G>T http://identifiers.org/clinvar/298749 ^@ NM_000494.3(COL17A1):c.557C>G (p.Pro186Arg) http://identifiers.org/clinvar/312625 ^@ NM_001376.4(DYNC1H1):c.2721T>C (p.Ile907=) http://identifiers.org/clinvar/304366 ^@ NM_000280.4(PAX6):c.-368G>A http://identifiers.org/clinvar/312775 ^@ NM_001145.4(ANG):c.363A>T (p.Thr121=) http://identifiers.org/clinvar/312825 ^@ NM_001126106.2(SLC7A7):c.342C>T (p.Phe114=) http://identifiers.org/clinvar/304516 ^@ NM_000448.2(RAG1):c.*739C>T http://identifiers.org/clinvar/304666 ^@ NM_021926.3(ALX4):c.*1135C>T http://identifiers.org/clinvar/298849 ^@ NM_001134363.2(RBM20):c.*2839C>G http://identifiers.org/clinvar/298899 ^@ NM_004132.4(HABP2):c.207C>T (p.Tyr69=) http://identifiers.org/clinvar/313664 ^@ NM_182914.2(SYNE2):c.20424G>A (p.Ser6808=) http://identifiers.org/clinvar/305016 ^@ NM_000062.2(SERPING1):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/313814 ^@ NM_002382.4(MAX):c.*144C>T http://identifiers.org/clinvar/313864 ^@ NM_015346.3(ZFYVE26):c.*551G>A http://identifiers.org/clinvar/313914 ^@ NM_015346.3(ZFYVE26):c.2332+7delT http://identifiers.org/clinvar/313964 ^@ NM_000021.3(PSEN1):c.*1380C>T http://identifiers.org/clinvar/305168 ^@ NM_000327.3(ROM1):c.986C>T (p.Ala329Val) http://identifiers.org/clinvar/305218 ^@ NM_144585.3(SLC22A12):c.-424T>C http://identifiers.org/clinvar/314364 ^@ NM_001040108.1(MLH3):c.*957_*958delCGinsAT http://identifiers.org/clinvar/299938 ^@ NM_020975.4(RET):c.*1599G>A http://identifiers.org/clinvar/299988 ^@ NM_002900.2(RBP3):c.1141G>C (p.Glu381Gln) http://identifiers.org/clinvar/305668 ^@ NM_145200.3(CABP4):c.*669T>C http://identifiers.org/clinvar/300138 ^@ NM_000242.2(MBL2):c.*937A>G http://identifiers.org/clinvar/300188 ^@ NM_033056.3(PCDH15):c.2581G>A (p.Val861Met) http://identifiers.org/clinvar/300238 ^@ NM_000417.2(IL2RA):c.*767C>T http://identifiers.org/clinvar/300288 ^@ NM_018055.4(NODAL):c.*740T>C http://identifiers.org/clinvar/306131 ^@ NM_006755.1(TALDO1):c.461+14C>T http://identifiers.org/clinvar/306181 ^@ NM_000260.3(MYO7A):c.3014C>T (p.Ala1005Val) http://identifiers.org/clinvar/300638 ^@ NM_004273.4(CHST3):c.*2843_*2844delAG http://identifiers.org/clinvar/300738 ^@ NM_002658.4(PLAU):c.-18C>A http://identifiers.org/clinvar/309781 ^@ NM_002206.2(ITGA7):c.2737C>T (p.Arg913Trp) http://identifiers.org/clinvar/309931 ^@ NM_004984.2(KIF5A):c.292-5G>A http://identifiers.org/clinvar/329626 ^@ NM_025136.3(OPA3):c.*3353_*3357delTCTTT http://identifiers.org/clinvar/309981 ^@ NM_000075.3(CDK4):c.-54C>T http://identifiers.org/clinvar/311425 ^@ NM_002010.2(FGF9):c.516G>T (p.Pro172=) http://identifiers.org/clinvar/310031 ^@ NM_000552.4(VWF):c.8366C>G (p.Thr2789Ser) http://identifiers.org/clinvar/310231 ^@ NM_014319.4(LEMD3):c.1063C>T (p.Pro355Ser) http://identifiers.org/clinvar/318595 ^@ NM_001089.2(ABCA3):c.-494C>T http://identifiers.org/clinvar/310281 ^@ NM_021150.3(GRIP1):c.*755_*757dupTAT http://identifiers.org/clinvar/330176 ^@ NM_206828.3(NLRP7):c.955G>A (p.Val319Ile) http://identifiers.org/clinvar/330226 ^@ NM_001015878.1(AURKC):c.-99dupC http://identifiers.org/clinvar/318645 ^@ NM_020705.2(TBC1D24):c.*1575C>T http://identifiers.org/clinvar/311875 ^@ NM_001127217.2(SMAD9):c.*666_*667delCA http://identifiers.org/clinvar/318845 ^@ NM_000034.3(ALDOA):c.*136C>T http://identifiers.org/clinvar/330526 ^@ NM_006702.4(PNPLA6):c.1954-15C>T http://identifiers.org/clinvar/318895 ^@ NM_006662.2(SRCAP):c.7351C>T (p.Pro2451Ser) http://identifiers.org/clinvar/318995 ^@ NM_004960.3(FUS):c.*214C>T http://identifiers.org/clinvar/312175 ^@ NM_014252.3(SLC25A15):c.-41G>A http://identifiers.org/clinvar/319045 ^@ NM_004960.3(FUS):c.*2884A>T http://identifiers.org/clinvar/312225 ^@ NM_003701.3(TNFSF11):c.-64C>G http://identifiers.org/clinvar/338012 ^@ NM_006899.4(IDH3B):c.1118_1120delTCA (p.Ile373del) http://identifiers.org/clinvar/311025 ^@ NM_001845.5(COL4A1):c.4250-12C>T http://identifiers.org/clinvar/338162 ^@ NM_006892.3(DNMT3B):c.1084G>T (p.Val362Leu) http://identifiers.org/clinvar/311075 ^@ NM_001845.5(COL4A1):c.651+4_651+5insCAC http://identifiers.org/clinvar/311225 ^@ NM_000131.4(F7):c.879G>A (p.Thr293=) http://identifiers.org/clinvar/338362 ^@ NM_153638.3(PANK2):c.954G>A (p.Ala318=) http://identifiers.org/clinvar/311325 ^@ NM_021954.3(GJA3):c.*358T>C http://identifiers.org/clinvar/338512 ^@ NM_000022.3(ADA):c.-101G>A http://identifiers.org/clinvar/338612 ^@ NM_030777.3(SLC2A10):c.*470_*472delTTT http://identifiers.org/clinvar/338963 ^@ NM_004738.4(VAPB):c.*2766C>T http://identifiers.org/clinvar/339013 ^@ NM_004738.4(VAPB):c.*5795T>G http://identifiers.org/clinvar/312125 ^@ NM_020751.2(COG6):c.-53T>G http://identifiers.org/clinvar/312275 ^@ NM_003850.2(SUCLA2):c.-34G>T http://identifiers.org/clinvar/312375 ^@ NM_000053.3(ATP7B):c.*148C>T http://identifiers.org/clinvar/314114 ^@ NM_031427.3(DNAL1):c.*6092A>G http://identifiers.org/clinvar/325047 ^@ NM_173477.2(USH1G):c.*371delA http://identifiers.org/clinvar/314214 ^@ NM_182894.2(VSX2):c.*670G>A http://identifiers.org/clinvar/326837 ^@ NM_144612.6(LOXHD1):c.4978A>G (p.Lys1660Glu) http://identifiers.org/clinvar/326987 ^@ NM_001080467.2(MYO5B):c.*371T>C http://identifiers.org/clinvar/328976 ^@ NM_032753.3(RAX2):c.-27G>T http://identifiers.org/clinvar/327337 ^@ NM_000140.3(FECH):c.*4463A>G http://identifiers.org/clinvar/327737 ^@ NM_003839.3(TNFRSF11A):c.1519G>A (p.Ala507Thr) http://identifiers.org/clinvar/327887 ^@ NM_001130823.2(DNMT1):c.4657-15G>A http://identifiers.org/clinvar/329876 ^@ NM_017636.3(TRPM4):c.*119C>T http://identifiers.org/clinvar/329926 ^@ NM_024729.3(MYH14):c.3018C>T (p.Leu1006=) http://identifiers.org/clinvar/329976 ^@ NM_030657.3(LIM2):c.131G>A (p.Arg44Gln) http://identifiers.org/clinvar/328726 ^@ NM_001031726.3(C19orf12):c.*136C>T http://identifiers.org/clinvar/337712 ^@ NM_018848.3(MKKS):c.-835A>T http://identifiers.org/clinvar/337762 ^@ NM_000214.2(JAG1):c.-27C>G http://identifiers.org/clinvar/337912 ^@ NM_198994.2(TGM6):c.816C>T (p.Gly272=) http://identifiers.org/clinvar/329226 ^@ NM_017827.3(SARS2):c.44G>C (p.Arg15Pro) http://identifiers.org/clinvar/329276 ^@ NM_181882.2(PRX):c.1500A>G (p.Ser500=) http://identifiers.org/clinvar/338212 ^@ NM_003098.2(SNTA1):c.1238-13G>C http://identifiers.org/clinvar/329326 ^@ NM_003573.2(LTBP4):c.4109C>T (p.Pro1370Leu) http://identifiers.org/clinvar/329376 ^@ NM_000709.3(BCKDHA):c.*334C>T http://identifiers.org/clinvar/329476 ^@ NM_212550.4(BLOC1S3):c.507G>A (p.Ala169=) http://identifiers.org/clinvar/338562 ^@ NM_004994.2(MMP9):c.*3C>T http://identifiers.org/clinvar/329676 ^@ NM_025136.3(OPA3):c.*398G>T http://identifiers.org/clinvar/338763 ^@ NM_020436.4(SALL4):c.2932G>A (p.Gly978Ser) http://identifiers.org/clinvar/329726 ^@ NM_000554.5(CRX):c.*839C>T http://identifiers.org/clinvar/329776 ^@ NM_000554.5(CRX):c.*2889G>A http://identifiers.org/clinvar/330076 ^@ NM_002739.4(PRKCG):c.*59dupC http://identifiers.org/clinvar/330376 ^@ NM_000208.3(INSR):c.*2854G>T http://identifiers.org/clinvar/330426 ^@ NM_000208.3(INSR):c.*356_*357delGC http://identifiers.org/clinvar/330576 ^@ NM_030957.3(ADAMTS10):c.3268G>A (p.Ala1090Thr) http://identifiers.org/clinvar/337812 ^@ NM_024411.4(PDYN):c.*1157T>G http://identifiers.org/clinvar/338262 ^@ NM_032034.3(SLC4A11):c.85C>T (p.Leu29Phe) http://identifiers.org/clinvar/338312 ^@ NM_000557.4(GDF5):c.*387T>C http://identifiers.org/clinvar/338462 ^@ NM_000457.4(HNF4A):c.*1821C>T http://identifiers.org/clinvar/340703 ^@ NM_014339.6(IL17RA):c.*4045G>A http://identifiers.org/clinvar/338662 ^@ NM_000311.4(PRNP):c.*672C>G http://identifiers.org/clinvar/338712 ^@ NM_006420.2(ARFGEF2):c.*215G>T http://identifiers.org/clinvar/340853 ^@ NM_004782.3(SNAP29):c.*519A>T http://identifiers.org/clinvar/338863 ^@ NM_144773.3(PROKR2):c.254G>T (p.Arg85Leu) http://identifiers.org/clinvar/341103 ^@ NM_000268.3(NF2):c.*1264delC http://identifiers.org/clinvar/341153 ^@ NM_000268.3(NF2):c.*2753A>G http://identifiers.org/clinvar/341253 ^@ NM_000343.3(SLC5A1):c.1275C>T (p.Ala425=) http://identifiers.org/clinvar/341303 ^@ NM_012179.3(FBXO7):c.-168A>G http://identifiers.org/clinvar/341403 ^@ NM_000362.4(TIMP3):c.*3127T>C http://identifiers.org/clinvar/388504 ^@ NM_003383.4(VLDLR):c.2104+5C>T http://identifiers.org/clinvar/380357 ^@ NM_014141.5(CNTNAP2):c.3234C>T (p.Leu1078=) http://identifiers.org/clinvar/391293 ^@ NM_017617.4(NOTCH1):c.5562C>T (p.Arg1854=) http://identifiers.org/clinvar/392032 ^@ NM_000051.3(ATM):c.4776+17C>G http://identifiers.org/clinvar/380007 ^@ NM_213649.1(SFXN4):c.415-6C>T http://identifiers.org/clinvar/392632 ^@ NM_000155.3(GALT):c.299C>G (p.Pro100Arg) http://identifiers.org/clinvar/378615 ^@ NM_001164277.1(SLC37A4):c.381+15A>G http://identifiers.org/clinvar/381310 ^@ NM_022124.5(CDH23):c.2734-17C>T http://identifiers.org/clinvar/390143 ^@ NM_000445.4(PLEC):c.11112C>T (p.Leu3704=) http://identifiers.org/clinvar/378259 ^@ NM_002496.3(NDUFS8):c.573C>T (p.Asn191=) http://identifiers.org/clinvar/378867 ^@ NM_001040436.2(YARS2):c.930G>C (p.Pro310=) http://identifiers.org/clinvar/378767 ^@ NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) http://identifiers.org/clinvar/388404 ^@ NM_006231.3(POLE):c.2952C>T (p.Ile984=) http://identifiers.org/clinvar/389543 ^@ NM_002471.3(MYH6):c.3979-13C>A http://identifiers.org/clinvar/392482 ^@ NM_021830.4(TWNK):c.638G>T (p.Gly213Val) http://identifiers.org/clinvar/392382 ^@ NM_001844.4(COL2A1):c.4228G>A (p.Ala1410Thr) http://identifiers.org/clinvar/390093 ^@ NM_000289.5(PFKM):c.1501-15C>T http://identifiers.org/clinvar/389593 ^@ NM_004990.3(MARS):c.2391A>C (p.Thr797=) http://identifiers.org/clinvar/390493 ^@ NM_000138.4(FBN1):c.4211-1G>A http://identifiers.org/clinvar/380307 ^@ NM_000314.6(PTEN):c.254-17T>G http://identifiers.org/clinvar/389943 ^@ NM_001376.4(DYNC1H1):c.7467C>T (p.Tyr2489=) http://identifiers.org/clinvar/384154 ^@ NM_030962.3(SBF2):c.807A>T (p.Pro269=) http://identifiers.org/clinvar/390743 ^@ NM_005902.3(SMAD3):c.872-15C>T http://identifiers.org/clinvar/387604 ^@ NM_005477.2(HCN4):c.1722C>T (p.Ser574=) http://identifiers.org/clinvar/390593 ^@ NM_022489.3(INF2):c.2991C>T (p.Asp997=) http://identifiers.org/clinvar/383653 ^@ NM_001271.3(CHD2):c.4874A>G (p.Asn1625Ser) http://identifiers.org/clinvar/379067 ^@ NM_001909.4(CTSD):c.1071+12A>T http://identifiers.org/clinvar/390543 ^@ NM_025137.3(SPG11):c.6754+19A>G http://identifiers.org/clinvar/388204 ^@ NM_014985.3(CEP152):c.982A>C (p.Lys328Gln) http://identifiers.org/clinvar/390443 ^@ NM_015915.4(ATL1):c.1078G>A (p.Val360Met) http://identifiers.org/clinvar/380859 ^@ NM_004360.4(CDH1):c.-40G>A http://identifiers.org/clinvar/391093 ^@ NM_004360.4(CDH1):c.1008+18T>A http://identifiers.org/clinvar/378414 ^@ NM_002693.2(POLG):c.2814T>C (p.Thr938=) http://identifiers.org/clinvar/378209 ^@ NM_002474.2(MYH11):c.5504+6C>A http://identifiers.org/clinvar/19 ^@ NM_000410.3(HFE):c.848A>C (p.Gln283Pro) http://identifiers.org/clinvar/176 ^@ NM_000274.3(OAT):c.897C>G (p.Tyr299Ter) http://identifiers.org/clinvar/199 ^@ NM_001173991.2(TMEM216):c.341T>G (p.Leu114Arg) http://identifiers.org/clinvar/249 ^@ NM_000398.6(CYB5R3):c.611G>A (p.Cys204Tyr) http://identifiers.org/clinvar/392 ^@ GM2A, 3-BP DEL, 262AAG http://identifiers.org/clinvar/474 ^@ NM_000035.3(ALDOB):c.547_552delCTGGTA (p.Leu183_Val184del) http://identifiers.org/clinvar/483 ^@ NM_000317.2(PTS):c.347A>G (p.Asp116Gly) http://identifiers.org/clinvar/560 ^@ NM_000140.3(FECH):c.580_584delTACAG (p.Tyr194Leufs) http://identifiers.org/clinvar/665 ^@ NM_000312.3(PROC):c.226G>A (p.Val76Met) http://identifiers.org/clinvar/837 ^@ APC, 4-BP DEL, 7929TCTA http://identifiers.org/clinvar/865 ^@ NR_029512.1(MIR96):n.13G>A http://identifiers.org/clinvar/1528 ^@ NM_000237.2(LPL):c.693C>G (p.Asp231Glu) http://identifiers.org/clinvar/1573 ^@ NM_001171993.1(HPD):c.362A>G (p.Tyr121Cys) http://identifiers.org/clinvar/1619 ^@ NM_014780.4(CUL7):c.1570-3C>A http://identifiers.org/clinvar/1668 ^@ NM_000785.3(CYP27B1):c.1226C>T (p.Thr409Ile) http://identifiers.org/clinvar/1712 ^@ NM_000124.3(ERCC6):c.2960T>C (p.Leu987Pro) http://identifiers.org/clinvar/1809 ^@ NM_152594.2(SPRED1):c.349C>T (p.Arg117Ter) http://identifiers.org/clinvar/1854 ^@ D2HGDH, IVS1AS, A-G, -23 http://identifiers.org/clinvar/1944 ^@ NM_030957.3(ADAMTS10):c.709C>T (p.Arg237Ter) http://identifiers.org/clinvar/2033 ^@ NM_017780.3(CHD7):c.2501C>T (p.Ser834Phe) http://identifiers.org/clinvar/2079 ^@ NM_020435.3(GJC2):c.143C>T (p.Ser48Leu) http://identifiers.org/clinvar/2124 ^@ NM_024075.4(TSEN34):c.172C>T (p.Arg58Trp) http://identifiers.org/clinvar/2171 ^@ NM_001191016.2(CASP12):c.373C>T (p.Arg125Ter) http://identifiers.org/clinvar/2216 ^@ NM_000551.3(VHL):c.500G>A (p.Arg167Gln) http://identifiers.org/clinvar/2261 ^@ NM_000101.3(CYBA):c.281A>G (p.His94Arg) http://identifiers.org/clinvar/2307 ^@ NM_005609.3(PYGM):c.1726C>T (p.Arg576Ter) http://identifiers.org/clinvar/2352 ^@ NM_206933.2(USH2A):c.2898delG (p.Thr967Leufs) http://identifiers.org/clinvar/2399 ^@ NM_000048.3(ASL):c.857A>G (p.Gln286Arg) http://identifiers.org/clinvar/2443 ^@ NM_000434.3(NEU1):c.1129G>T (p.Glu377Ter) http://identifiers.org/clinvar/12961 ^@ NM_001035.2(RYR2):c.13957G>T (p.Val4653Phe) http://identifiers.org/clinvar/13012 ^@ NM_002929.2(GRK1):c.1172C>A (p.Pro391His) http://identifiers.org/clinvar/13063 ^@ NM_000324.2(RHAG):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/13114 ^@ NM_000329.2(RPE65):c.700C>T (p.Arg234Ter) http://identifiers.org/clinvar/13165 ^@ NM_000322.4(PRPH2):c.554T>C (p.Leu185Pro) http://identifiers.org/clinvar/13216 ^@ NM_000055.2(BCHE):c.435delTinsAG (p.Phe146Valfs) http://identifiers.org/clinvar/13267 ^@ NM_000141.4(FGFR2):c.1024T>A (p.Cys342Ser) http://identifiers.org/clinvar/13318 ^@ NM_000313.3(PROS1):c.586A>G (p.Lys196Glu) http://identifiers.org/clinvar/13368 ^@ PSAP, 1-BP DEL, 803G http://identifiers.org/clinvar/13422 ^@ NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) http://identifiers.org/clinvar/13474 ^@ NM_004977.2(KCNC3):c.1344C>A (p.Phe448Leu) http://identifiers.org/clinvar/13524 ^@ NM_000297.3(PKD2):c.1532A>T (p.Asp511Val) http://identifiers.org/clinvar/36637 ^@ NM_000257.3(MYH7):c.2652_2654delGAA (p.Lys884del) http://identifiers.org/clinvar/36689 ^@ NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) http://identifiers.org/clinvar/39661 ^@ NM_000834.3(GRIN2B):c.1658C>T (p.Pro553Leu) http://identifiers.org/clinvar/39713 ^@ NM_018486.2(HDAC8):c.958G>A (p.Gly320Arg) http://identifiers.org/clinvar/40483 ^@ NM_002834.4(PTPN11):c.132C>A (p.Ser44=) http://identifiers.org/clinvar/40540 ^@ NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) http://identifiers.org/clinvar/40602 ^@ NM_002880.3(RAF1):c.776C>G (p.Ser259Cys) http://identifiers.org/clinvar/40672 ^@ NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) http://identifiers.org/clinvar/40758 ^@ NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) http://identifiers.org/clinvar/40889 ^@ NM_001242.4(CD27):c.24G>A (p.Trp8Ter) http://identifiers.org/clinvar/41025 ^@ NM_000530.7(MPZ):c.164G>T (p.Ser55Ile) http://identifiers.org/clinvar/41081 ^@ NM_003611.2(OFD1):c.1445_1446delTT (p.Phe482Serfs) http://identifiers.org/clinvar/41137 ^@ NM_003611.2(OFD1):c.65dupA (p.Leu23Alafs) http://identifiers.org/clinvar/41189 ^@ NM_003977.3(AIP):c.584T>C (p.Val195Ala) http://identifiers.org/clinvar/51200 ^@ NM_000059.3(BRCA2):c.1804G>A (p.Gly602Arg) http://identifiers.org/clinvar/51253 ^@ NM_000059.3(BRCA2):c.2175A>T (p.Lys725Asn) http://identifiers.org/clinvar/51303 ^@ NM_000059.3(BRCA2):c.2538A>G (p.Ser846=) http://identifiers.org/clinvar/51354 ^@ NM_000059.3(BRCA2):c.2828_2831delTTAA (p.Ile943Lysfs) http://identifiers.org/clinvar/51404 ^@ NM_000059.3(BRCA2):c.3142G>A (p.Val1048Ile) http://identifiers.org/clinvar/51456 ^@ NM_000059.3(BRCA2):c.3381delT (p.Phe1127Leufs) http://identifiers.org/clinvar/51507 ^@ NM_000059.3(BRCA2):c.3697G>A (p.Ala1233Thr) http://identifiers.org/clinvar/51558 ^@ NM_000059.3(BRCA2):c.3905C>A (p.Thr1302Asn) http://identifiers.org/clinvar/51609 ^@ NM_000059.3(BRCA2):c.416T>C (p.Leu139Pro) http://identifiers.org/clinvar/51661 ^@ NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) http://identifiers.org/clinvar/51713 ^@ NM_000059.3(BRCA2):c.4766delC (p.Pro1589Glnfs) http://identifiers.org/clinvar/51764 ^@ NM_000059.3(BRCA2):c.5086_5087insA (p.Gly1696Glufs) http://identifiers.org/clinvar/51815 ^@ NM_000059.3(BRCA2):c.51dupA (p.Arg18Thrfs) http://identifiers.org/clinvar/51868 ^@ NM_000059.3(BRCA2):c.5471A>G (p.Asn1824Ser) http://identifiers.org/clinvar/51921 ^@ NM_000059.3(BRCA2):c.572A>T (p.Asp191Val) http://identifiers.org/clinvar/51972 ^@ NM_000059.3(BRCA2):c.5954_5955delCT (p.Ser1985Cysfs) http://identifiers.org/clinvar/52023 ^@ NM_000059.3(BRCA2):c.6169G>T (p.Gly2057Ter) http://identifiers.org/clinvar/52075 ^@ NM_000059.3(BRCA2):c.6373delA (p.Thr2125Profs) http://identifiers.org/clinvar/52128 ^@ NM_000059.3(BRCA2):c.6557C>A (p.Ser2186Ter) http://identifiers.org/clinvar/52179 ^@ NM_000059.3(BRCA2):c.6767G>A (p.Cys2256Tyr) http://identifiers.org/clinvar/52229 ^@ NM_000059.3(BRCA2):c.6966G>T (p.Met2322Ile) http://identifiers.org/clinvar/52281 ^@ NM_000059.3(BRCA2):c.7183delC (p.His2395Thrfs) http://identifiers.org/clinvar/52381 ^@ NM_000059.3(BRCA2):c.7679_7680delTT (p.Phe2560Serfs) http://identifiers.org/clinvar/52432 ^@ NM_000059.3(BRCA2):c.7886G>A (p.Trp2629Ter) http://identifiers.org/clinvar/52482 ^@ NM_000059.3(BRCA2):c.8039A>G (p.Asp2680Gly) http://identifiers.org/clinvar/52532 ^@ NM_000059.3(BRCA2):c.8234_8237delTGAC (p.Leu2745Glnfs) http://identifiers.org/clinvar/52583 ^@ NM_000059.3(BRCA2):c.8428A>C (p.Ser2810Arg) http://identifiers.org/clinvar/52634 ^@ NM_000059.3(BRCA2):c.8618T>G (p.Phe2873Cys) http://identifiers.org/clinvar/52685 ^@ NM_000059.3(BRCA2):c.8820_8823delACAA (p.Gln2941Leufs) http://identifiers.org/clinvar/52735 ^@ NM_000059.3(BRCA2):c.9057delA (p.Lys3019Asnfs) http://identifiers.org/clinvar/53436 ^@ NM_000492.3(CFTR):c.2077T>C (p.Phe693Leu) http://identifiers.org/clinvar/53489 ^@ NM_000492.3(CFTR):c.2435dupT (p.Leu812Phefs) http://identifiers.org/clinvar/53539 ^@ NM_000492.3(CFTR):c.2658-1G>T http://identifiers.org/clinvar/53589 ^@ NM_000492.3(CFTR):c.2908G>A (p.Gly970Ser) http://identifiers.org/clinvar/53640 ^@ NM_000492.3(CFTR):c.3047T>C (p.Phe1016Ser) http://identifiers.org/clinvar/53692 ^@ NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) http://identifiers.org/clinvar/53742 ^@ NM_000492.3(CFTR):c.3439G>A (p.Val1147Ile) http://identifiers.org/clinvar/53793 ^@ NM_000492.3(CFTR):c.3718-3T>G http://identifiers.org/clinvar/53847 ^@ NM_000492.3(CFTR):c.3908delA (p.Asn1303Thrfs) http://identifiers.org/clinvar/53897 ^@ NM_000492.3(CFTR):c.412_413insACT (p.Leu137_Leu138insHis) http://identifiers.org/clinvar/53948 ^@ NM_000492.3(CFTR):c.442delA (p.Ile148Leufs) http://identifiers.org/clinvar/53998 ^@ NM_000492.3(CFTR):c.54_164del111 (p.Ser18_Glu54del) http://identifiers.org/clinvar/54048 ^@ NM_000492.3(CFTR):c.72G>C (p.Leu24Phe) http://identifiers.org/clinvar/54100 ^@ NM_007294.3(BRCA1):c.1008dupA (p.Glu337Argfs) http://identifiers.org/clinvar/54150 ^@ NM_007294.3(BRCA1):c.1159dupT (p.Ser387Phefs) http://identifiers.org/clinvar/54200 ^@ NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) http://identifiers.org/clinvar/54250 ^@ NM_007294.3(BRCA1):c.1421T>G (p.Leu474Ter) http://identifiers.org/clinvar/54301 ^@ NM_007294.3(BRCA1):c.1583_1589delCTCCTGA (p.Thr528Lysfs) http://identifiers.org/clinvar/54351 ^@ NM_007294.3(BRCA1):c.1793T>A (p.Leu598Ter) http://identifiers.org/clinvar/54402 ^@ NM_007294.3(BRCA1):c.1927A>G (p.Ser643Gly) http://identifiers.org/clinvar/54452 ^@ NM_007294.3(BRCA1):c.2075_2076delAT (p.His692Argfs) http://identifiers.org/clinvar/54502 ^@ NM_007294.3(BRCA1):c.2212_2215delGTTA (p.Val738Lysfs) http://identifiers.org/clinvar/54552 ^@ NM_007294.3(BRCA1):c.2389_2390delGA (p.Glu797Thrfs) http://identifiers.org/clinvar/54602 ^@ NM_007294.3(BRCA1):c.2561_2565delCTCAG (p.Ala854Valfs) http://identifiers.org/clinvar/54652 ^@ NM_007294.3(BRCA1):c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs) http://identifiers.org/clinvar/54702 ^@ NM_007294.3(BRCA1):c.2866_2870delTCTCA (p.Ser956Valfs) http://identifiers.org/clinvar/54752 ^@ NM_007294.3(BRCA1):c.302-2A>G http://identifiers.org/clinvar/55704 ^@ NM_007294.3(BRCA1):c.791G>A (p.Ser264Asn) http://identifiers.org/clinvar/56222 ^@ NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) http://identifiers.org/clinvar/56273 ^@ NM_001042432.1(CLN3):c.472G>C (p.Ala158Pro) http://identifiers.org/clinvar/56325 ^@ NM_001081.3(CUBN):c.2068A>G (p.Ile690Val) http://identifiers.org/clinvar/56375 ^@ NM_001126105.2(SLC7A7):c.625+1G>C http://identifiers.org/clinvar/56427 ^@ NM_004646.3(NPHS1):c.1135C>T (p.Arg379Trp) http://identifiers.org/clinvar/56477 ^@ NM_004646.3(NPHS1):c.2495T>C (p.Leu832Pro) http://identifiers.org/clinvar/56527 ^@ NM_006493.2(CLN5):c.1072_1073delTT (p.Leu358Alafs) http://identifiers.org/clinvar/56580 ^@ NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) http://identifiers.org/clinvar/56636 ^@ NM_017890.4(VPS13B):c.11505delA (p.Lys3835Asnfs) http://identifiers.org/clinvar/56686 ^@ NM_017890.4(VPS13B):c.7221delG (p.Gln2407Hisfs) http://identifiers.org/clinvar/56736 ^@ NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs) http://identifiers.org/clinvar/56789 ^@ NM_153704.5(TMEM67):c.888G>T (p.Trp296Cys) http://identifiers.org/clinvar/56994 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1 http://identifiers.org/clinvar/57048 ^@ GRCh38/hg38 21q21.2(chr21:23855254-24358650)x1 http://identifiers.org/clinvar/57103 ^@ GRCh38/hg38 8p23.1(chr8:7411297-8273167)x3 http://identifiers.org/clinvar/57156 ^@ GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3 http://identifiers.org/clinvar/57207 ^@ GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 http://identifiers.org/clinvar/57260 ^@ GRCh38/hg38 1q44(chr1:243677224-244923447)x1 http://identifiers.org/clinvar/57313 ^@ GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 http://identifiers.org/clinvar/57366 ^@ GRCh38/hg38 4q35.2(chr4:189185703-189254661)x3 http://identifiers.org/clinvar/101184 ^@ NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter) http://identifiers.org/clinvar/101234 ^@ NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg) http://identifiers.org/clinvar/101284 ^@ NM_000090.3(COL3A1):c.1923+1G>A (p.Gly624_Gln641del) http://identifiers.org/clinvar/101334 ^@ NM_000090.3(COL3A1):c.3293G>T (p.Gly1098Val) http://identifiers.org/clinvar/101384 ^@ NM_000090.3(COL3A1):c.548G>C (p.Gly183Ala) http://identifiers.org/clinvar/101434 ^@ NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) http://identifiers.org/clinvar/101484 ^@ NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) http://identifiers.org/clinvar/102439 ^@ TTC19, 4-BP DEL, 964GGCT http://identifiers.org/clinvar/102497 ^@ NM_000277.1(PAH):c.1054G>T (p.Gly352Cys) http://identifiers.org/clinvar/102555 ^@ NM_000277.1(PAH):c.1199+17G>A http://identifiers.org/clinvar/158659 ^@ NM_018486.2(HDAC8):c.159G>A (p.Gln53=) http://identifiers.org/clinvar/160883 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 http://identifiers.org/clinvar/160935 ^@ GRCh38/hg38 1p35.2(chr1:30116821-30696608)x1 http://identifiers.org/clinvar/160985 ^@ GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 http://identifiers.org/clinvar/161036 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 http://identifiers.org/clinvar/161086 ^@ GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1 http://identifiers.org/clinvar/161368 ^@ NM_000540.2(RYR1):c.2119G>A (p.Gly707Ser) http://identifiers.org/clinvar/161426 ^@ NM_001519.3(BRF1):c.875C>A (p.Pro292His) http://identifiers.org/clinvar/161687 ^@ NM_014991.4(WDFY3):c.10260-7C>G http://identifiers.org/clinvar/161637 ^@ NM_005618.3(DLL1):c.1711C>A (p.Leu571Met) http://identifiers.org/clinvar/161537 ^@ NM_001145513.1(SCRN1):c.1223C>T (p.Thr408Met) http://identifiers.org/clinvar/161737 ^@ NM_020809.3(ARHGAP20):c.464T>C (p.Val155Ala) http://identifiers.org/clinvar/161587 ^@ NM_001931.4(DLAT):c.1339T>C (p.Tyr447His) http://identifiers.org/clinvar/161787 ^@ NM_033116.5(NEK9):c.1756dupA (p.Thr586Asnfs) http://identifiers.org/clinvar/161487 ^@ NM_001007228.1(SPOP):c.399C>G (p.Phe133Leu) http://identifiers.org/clinvar/161837 ^@ NM_178468.5(FAM83C):c.863G>A (p.Arg288His) http://identifiers.org/clinvar/162005 ^@ NM_000734.3(CD247):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/162071 ^@ NM_002019.4(FLT1):c.3287-16A>C http://identifiers.org/clinvar/162127 ^@ NM_005211.3(CSF1R):c.1745T>C (p.Leu582Pro) http://identifiers.org/clinvar/162196 ^@ NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) http://identifiers.org/clinvar/162398 ^@ NM_052874.4(STX1B):c.647T>A (p.Val216Glu) http://identifiers.org/clinvar/162479 ^@ NM_004208.3(AIFM1):c.1264C>T (p.Arg422Trp) http://identifiers.org/clinvar/162538 ^@ NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln) http://identifiers.org/clinvar/162620 ^@ NM_006260.4(DNAJC3):c.580C>T (p.Arg194Ter) http://identifiers.org/clinvar/178387 ^@ NM_004700.3(KCNQ4):c.438G>A (p.Glu146=) http://identifiers.org/clinvar/166490 ^@ NM_206933.2(USH2A):c.5844T>C (p.Arg1948=) http://identifiers.org/clinvar/165115 ^@ NM_001035.2(RYR2):c.10325C>T (p.Ala3442Val) http://identifiers.org/clinvar/165639 ^@ NM_133378.4(TTN):c.97246delG (p.Glu32416Lysfs) http://identifiers.org/clinvar/178856 ^@ NM_133378.4(TTN):c.81841G>T (p.Val27281Phe) http://identifiers.org/clinvar/163062 ^@ NM_001042702.3(DFNB59):c.405A>C (p.Thr135=) http://identifiers.org/clinvar/165933 ^@ NM_001256850.1(TTN):c.55003C>T (p.His18335Tyr) http://identifiers.org/clinvar/162727 ^@ NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr) http://identifiers.org/clinvar/179156 ^@ NM_201557.3(FHL2):c.512C>T (p.Thr171Met) http://identifiers.org/clinvar/165840 ^@ NM_133378.4(TTN):c.66896_66898delCAA (p.Thr22299del) http://identifiers.org/clinvar/179945 ^@ NM_133378.4(TTN):c.55230_55232delAGA (p.Glu18411del) http://identifiers.org/clinvar/178906 ^@ NM_133378.4(TTN):c.53112G>A (p.Pro17704=) http://identifiers.org/clinvar/178187 ^@ NM_133378.4(TTN):c.68861T>C (p.Ile22954Thr) http://identifiers.org/clinvar/165993 ^@ NM_133378.4(TTN):c.44977C>A (p.Pro14993Thr) http://identifiers.org/clinvar/179056 ^@ NM_001256850.1(TTN):c.16592G>A (p.Gly5531Glu) http://identifiers.org/clinvar/166127 ^@ NM_133378.4(TTN):c.25872+7T>C http://identifiers.org/clinvar/178237 ^@ NM_133378.4(TTN):c.20193C>T (p.Ser6731=) http://identifiers.org/clinvar/166249 ^@ NM_133379.4(TTN):c.15778A>G (p.Ile5260Val) http://identifiers.org/clinvar/166359 ^@ NM_001256850.1(TTN):c.230G>A (p.Arg77Gln) http://identifiers.org/clinvar/164878 ^@ NM_194248.2(OTOF):c.337T>C (p.Cys113Arg) http://identifiers.org/clinvar/178755 ^@ NM_001369.2(DNAH5):c.2229T>C (p.Asp743=) http://identifiers.org/clinvar/166299 ^@ NM_133378.4(TTN):c.9434G>A (p.Arg3145Lys) http://identifiers.org/clinvar/178587 ^@ NM_006005.3(WFS1):c.854G>A (p.Arg285His) http://identifiers.org/clinvar/166583 ^@ NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) http://identifiers.org/clinvar/163258 ^@ NM_004415.3(DSP):c.2850T>G (p.Ile950Met) http://identifiers.org/clinvar/165265 ^@ NM_000441.1(SLC26A4):c.2215C>T (p.Gln739Ter) http://identifiers.org/clinvar/162803 ^@ NM_004333.4(BRAF):c.1055A>G (p.Asp352Gly) http://identifiers.org/clinvar/163117 ^@ NM_001277115.1(DNAH11):c.9097A>G (p.Ile3033Val) http://identifiers.org/clinvar/164993 ^@ NM_016203.3(PRKAG2):c.467-10T>G http://identifiers.org/clinvar/178337 ^@ NM_015404.3(WHRN):c.1048C>T (p.Arg350Trp) http://identifiers.org/clinvar/198453 ^@ NM_024549.5(TCTN1):c.781-4C>G http://identifiers.org/clinvar/198507 ^@ NM_004333.4(BRAF):c.918C>G (p.Ser306=) http://identifiers.org/clinvar/198558 ^@ NM_014141.5(CNTNAP2):c.1051G>A (p.Ala351Thr) http://identifiers.org/clinvar/198610 ^@ NM_001177317.1(SLC34A3):c.575C>T (p.Ser192Leu) http://identifiers.org/clinvar/198661 ^@ NM_032119.3(ADGRV1):c.15145G>A (p.Ala5049Thr) http://identifiers.org/clinvar/198712 ^@ NM_000292.2(PHKA2):c.742A>C (p.Arg248=) http://identifiers.org/clinvar/198767 ^@ NM_001130438.2(SPTAN1):c.958C>T (p.Arg320Cys) http://identifiers.org/clinvar/198819 ^@ NM_005477.2(HCN4):c.2801G>A (p.Arg934His) http://identifiers.org/clinvar/198874 ^@ NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) http://identifiers.org/clinvar/201225 ^@ NM_001035.2(RYR2):c.1973A>G (p.Asn658Ser) http://identifiers.org/clinvar/201172 ^@ NM_001035.2(RYR2):c.4652A>G (p.Asn1551Ser) http://identifiers.org/clinvar/201281 ^@ NM_001035.2(RYR2):c.7385C>T (p.Pro2462Leu) http://identifiers.org/clinvar/201395 ^@ NM_001035.2(RYR2):c.10266G>C (p.Gln3422His) http://identifiers.org/clinvar/201335 ^@ NM_001035.2(RYR2):c.12545A>C (p.Glu4182Ala) http://identifiers.org/clinvar/201504 ^@ NM_198056.2(SCN5A):c.4035G>A (p.Trp1345Ter) http://identifiers.org/clinvar/201562 ^@ NM_000335.4(SCN5A):c.3112delAinsCCC (p.Thr1038Profs) http://identifiers.org/clinvar/201448 ^@ NM_198056.2(SCN5A):c.1167C>A (p.Tyr389Ter) http://identifiers.org/clinvar/202123 ^@ NM_024334.2(TMEM43):c.1115G>A (p.Arg372Gln) http://identifiers.org/clinvar/201950 ^@ NM_014476.5(PDLIM3):c.29C>T (p.Pro10Leu) http://identifiers.org/clinvar/202065 ^@ NM_001134363.2(RBM20):c.2062C>T (p.Arg688Ter) http://identifiers.org/clinvar/201676 ^@ NM_004281.3(BAG3):c.898G>A (p.Asp300Asn) http://identifiers.org/clinvar/201895 ^@ NM_032578.3(MYPN):c.2228C>T (p.Pro743Leu) http://identifiers.org/clinvar/201842 ^@ NM_007078.2(LDB3):c.322-1G>A http://identifiers.org/clinvar/201788 ^@ NM_004517.3(ILK):c.65A>G (p.Asn22Ser) http://identifiers.org/clinvar/201622 ^@ NM_020297.3(ABCC9):c.3201delT (p.Leu1068Phefs) http://identifiers.org/clinvar/202007 ^@ NM_004572.3(PKP2):c.2301delC (p.Glu769Lysfs) http://identifiers.org/clinvar/201732 ^@ NM_004006.2(DMD):c.2848G>A (p.Ala950Thr) http://identifiers.org/clinvar/202180 ^@ NM_006920.4(SCN1A):c.2923_2924delCT (p.Phe976Serfs) http://identifiers.org/clinvar/202230 ^@ NC_000005.9:g.(?_98241365)_(98339090_?)dup http://identifiers.org/clinvar/202408 ^@ NM_001256850.1(TTN):c.72841C>T (p.Gln24281Ter) http://identifiers.org/clinvar/202521 ^@ NM_001256850.1(TTN):c.70405C>T (p.Arg23469Ter) http://identifiers.org/clinvar/202463 ^@ NM_001256850.1(TTN):c.66026_66028delACA (p.Asn22009del) http://identifiers.org/clinvar/230852 ^@ NM_000038.5(APC):c.5802C>G (p.Pro1934=) http://identifiers.org/clinvar/231252 ^@ NM_005732.3(RAD50):c.490T>C (p.Trp164Arg) http://identifiers.org/clinvar/233692 ^@ NM_005732.3(RAD50):c.3168A>G (p.Glu1056=) http://identifiers.org/clinvar/231991 ^@ NM_002485.4(NBN):c.611C>G (p.Ser204Cys) http://identifiers.org/clinvar/231302 ^@ NM_002485.4(NBN):c.156T>C (p.Phe52=) http://identifiers.org/clinvar/230202 ^@ NM_002485.4(NBN):c.139G>T (p.Val47Leu) http://identifiers.org/clinvar/230052 ^@ NM_000077.4(CDKN2A):c.66G>A (p.Arg22=) http://identifiers.org/clinvar/231002 ^@ NM_000051.3(ATM):c.215C>T (p.Thr72Ile) http://identifiers.org/clinvar/230702 ^@ NM_000051.3(ATM):c.4071T>C (p.Ser1357=) http://identifiers.org/clinvar/232191 ^@ NM_000051.3(ATM):c.4196C>G (p.Thr1399Ser) http://identifiers.org/clinvar/230652 ^@ NM_000051.3(ATM):c.5115T>C (p.Asp1705=) http://identifiers.org/clinvar/233142 ^@ NM_000051.3(ATM):c.5554C>A (p.Gln1852Lys) http://identifiers.org/clinvar/232742 ^@ NM_000051.3(ATM):c.5594A>G (p.His1865Arg) http://identifiers.org/clinvar/230152 ^@ NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) http://identifiers.org/clinvar/231891 ^@ NM_000051.3(ATM):c.7018G>A (p.Val2340Ile) http://identifiers.org/clinvar/230552 ^@ NM_000051.3(ATM):c.7928-4A>C http://identifiers.org/clinvar/233192 ^@ NM_000051.3(ATM):c.9082G>A (p.Val3028Ile) http://identifiers.org/clinvar/231052 ^@ NM_000059.3(BRCA2):c.733delA (p.Arg245Aspfs) http://identifiers.org/clinvar/232041 ^@ NM_000059.3(BRCA2):c.1615G>A (p.Gly539Arg) http://identifiers.org/clinvar/232441 ^@ NM_000059.3(BRCA2):c.2716dupA (p.Thr906Asnfs) http://identifiers.org/clinvar/233292 ^@ NM_000059.3(BRCA2):c.8440A>G (p.Asn2814Asp) http://identifiers.org/clinvar/231102 ^@ NM_000059.3(BRCA2):c.10096A>C (p.Ser3366Arg) http://identifiers.org/clinvar/232992 ^@ NM_000548.4(TSC2):c.2098-5C>G http://identifiers.org/clinvar/232491 ^@ NM_000548.4(TSC2):c.4764G>C (p.Gln1588His) http://identifiers.org/clinvar/230002 ^@ NM_024675.3(PALB2):c.3453C>G (p.Leu1151=) http://identifiers.org/clinvar/230502 ^@ NM_024675.3(PALB2):c.2273C>G (p.Pro758Arg) http://identifiers.org/clinvar/230252 ^@ NM_024675.3(PALB2):c.831C>T (p.Asp277=) http://identifiers.org/clinvar/232241 ^@ NM_024675.3(PALB2):c.29G>T (p.Ser10Ile) http://identifiers.org/clinvar/231152 ^@ NM_004360.4(CDH1):c.2108C>T (p.Ala703Val) http://identifiers.org/clinvar/229852 ^@ NM_001042492.2(NF1):c.3941G>A (p.Trp1314Ter) http://identifiers.org/clinvar/232942 ^@ NM_001042492.2(NF1):c.4530A>T (p.Leu1510=) http://identifiers.org/clinvar/232642 ^@ NM_001042492.2(NF1):c.7311C>T (p.Ala2437=) http://identifiers.org/clinvar/232692 ^@ NM_002878.3(RAD51D):c.316G>C (p.Val106Leu) http://identifiers.org/clinvar/230952 ^@ NM_007294.3(BRCA1):c.4683C>T (p.Thr1561=) http://identifiers.org/clinvar/232341 ^@ NM_007294.3(BRCA1):c.3862G>C (p.Glu1288Gln) http://identifiers.org/clinvar/232792 ^@ NM_007294.3(BRCA1):c.3815A>G (p.Asn1272Ser) http://identifiers.org/clinvar/230102 ^@ NM_007294.3(BRCA1):c.2263G>A (p.Glu755Lys) http://identifiers.org/clinvar/233092 ^@ NM_007294.3(BRCA1):c.2065A>G (p.Ser689Gly) http://identifiers.org/clinvar/231841 ^@ NM_007294.3(BRCA1):c.1105_1106insTC (p.Asp369Valfs) http://identifiers.org/clinvar/230602 ^@ NM_007294.3(BRCA1):c.36A>G (p.Gln12=) http://identifiers.org/clinvar/232141 ^@ NM_058216.2(RAD51C):c.69G>A (p.Val23=) http://identifiers.org/clinvar/230402 ^@ NM_032043.2(BRIP1):c.1748A>G (p.Lys583Arg) http://identifiers.org/clinvar/232842 ^@ NM_032043.2(BRIP1):c.1736G>T (p.Arg579Leu) http://identifiers.org/clinvar/230902 ^@ NM_032043.2(BRIP1):c.1401A>G (p.Ile467Met) http://identifiers.org/clinvar/233042 ^@ NM_005359.5(SMAD4):c.1585_1586dupTT (p.Leu529Phefs) http://identifiers.org/clinvar/230302 ^@ NM_000455.4(STK11):c.780C>T (p.Ile260=) http://identifiers.org/clinvar/232541 ^@ NM_007194.3(CHEK2):c.777T>C (p.Gly259=) http://identifiers.org/clinvar/235059 ^@ NM_024334.2(TMEM43):c.1061G>C (p.Cys354Ser) http://identifiers.org/clinvar/235009 ^@ NC_012920.1:m.4135T>C http://identifiers.org/clinvar/235184 ^@ NM_018946.3(NANS):c.449-10_449-5delGATTACinsATGG http://identifiers.org/clinvar/235248 ^@ NM_175073.2(APTX):c.771-12_771-11insTT http://identifiers.org/clinvar/235300 ^@ NM_000255.3(MUT):c.205A>G (p.Ile69Val) http://identifiers.org/clinvar/235352 ^@ NM_000495.4(COL4A5):c.2031_2038delAGGTCTTC (p.Gly678Argfs) http://identifiers.org/clinvar/235407 ^@ NM_000298.5(PKLR):c.1516G>A (p.Val506Ile) http://identifiers.org/clinvar/235462 ^@ NC_012920.1:m.5033A>G http://identifiers.org/clinvar/235515 ^@ NM_018249.5(CDK5RAP2):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/235567 ^@ NM_032119.3(ADGRV1):c.564G>C (p.Glu188Asp) http://identifiers.org/clinvar/235617 ^@ NM_001130438.2(SPTAN1):c.7414C>T (p.Arg2472Cys) http://identifiers.org/clinvar/235670 ^@ NM_001909.4(CTSD):c.241G>T (p.Gly81Trp) http://identifiers.org/clinvar/235730 ^@ NM_000321.2(RB1):c.1216-29A>G http://identifiers.org/clinvar/235805 ^@ NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter) http://identifiers.org/clinvar/235857 ^@ NM_000159.3(GCDH):c.456C>G (p.Ile152Met) http://identifiers.org/clinvar/236041 ^@ NM_138691.2(TMC1):c.15dupA (p.Val6Serfs) http://identifiers.org/clinvar/236141 ^@ NM_000350.2(ABCA4):c.5909T>C (p.Leu1970Pro) http://identifiers.org/clinvar/236191 ^@ NM_000531.5(OTC):c.254T>C (p.Ile85Thr) http://identifiers.org/clinvar/236279 ^@ NM_000059.3(BRCA2):c.5237_5238dupCT (p.Asn1747Leufs) http://identifiers.org/clinvar/236330 ^@ NC_000010.9:g.79036437_79286611dup250175 http://identifiers.org/clinvar/238227 ^@ NM_001035.2(RYR2):c.2251A>G (p.Thr751Ala) http://identifiers.org/clinvar/240971 ^@ NM_015102.4(NPHP4):c.599A>G (p.His200Arg) http://identifiers.org/clinvar/237627 ^@ NM_000272.3(NPHP1):c.-94-?_*455+?del http://identifiers.org/clinvar/238827 ^@ NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) http://identifiers.org/clinvar/238777 ^@ NM_001267550.2(TTN):c.43355G>T (p.Arg14452Ile) http://identifiers.org/clinvar/238727 ^@ NM_001267550.2(TTN):c.26157T>C (p.Asn8719=) http://identifiers.org/clinvar/238877 ^@ NM_001267550.2(TTN):c.9989-5T>G http://identifiers.org/clinvar/237777 ^@ NM_000393.4(COL5A2):c.4362T>A (p.Asn1454Lys) http://identifiers.org/clinvar/237827 ^@ NM_000465.3(BARD1):c.1890T>A (p.Ile630=) http://identifiers.org/clinvar/239820 ^@ NM_004304.4(ALK):c.3257C>T (p.Ser1086Leu) http://identifiers.org/clinvar/237376 ^@ NM_000251.2(MSH2):c.1831G>A (p.Val611Met) http://identifiers.org/clinvar/237175 ^@ NM_000179.2(MSH6):c.3070C>T (p.Arg1024Trp) http://identifiers.org/clinvar/237326 ^@ NM_000249.3(MLH1):c.1978C>T (p.Leu660=) http://identifiers.org/clinvar/240671 ^@ NM_006514.3(SCN10A):c.365C>T (p.Thr122Met) http://identifiers.org/clinvar/240070 ^@ NM_004656.3(BAP1):c.960C>T (p.Cys320=) http://identifiers.org/clinvar/240721 ^@ NM_007159.4(SLMAP):c.1063G>A (p.Glu355Lys) http://identifiers.org/clinvar/238277 ^@ NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) http://identifiers.org/clinvar/240321 ^@ NM_006206.4(PDGFRA):c.1951C>T (p.Leu651=) http://identifiers.org/clinvar/237276 ^@ NM_000222.2(KIT):c.463C>T (p.Pro155Ser) http://identifiers.org/clinvar/240221 ^@ NM_005732.3(RAD50):c.188G>A (p.Gly63Glu) http://identifiers.org/clinvar/239870 ^@ NM_004333.4(BRAF):c.1661T>C (p.Ile554Thr) http://identifiers.org/clinvar/238927 ^@ NM_001277115.1(DNAH11):c.5993G>A (p.Gly1998Asp) http://identifiers.org/clinvar/255791 ^@ NM_000297.3(PKD2):c.1830G>A (p.Ala610=) http://identifiers.org/clinvar/257980 ^@ NM_001369.2(DNAH5):c.11570+35A>G http://identifiers.org/clinvar/258030 ^@ NM_001369.2(DNAH5):c.4117-39T>G http://identifiers.org/clinvar/263019 ^@ NM_182925.4(FLT4):c.1103+33A>C http://identifiers.org/clinvar/263069 ^@ NM_182925.4(FLT4):c.677-15T>C http://identifiers.org/clinvar/257380 ^@ NM_001080479.2(ARHGEF28):c.964-7C>T http://identifiers.org/clinvar/256091 ^@ NM_000426.3(LAMA2):c.8907C>T (p.Arg2969=) http://identifiers.org/clinvar/256291 ^@ NM_000500.7(CYP21A2):c.300G>A (p.Leu100=) http://identifiers.org/clinvar/257630 ^@ NM_001206927.1(DNAH8):c.13462A>G (p.Ile4488Val) http://identifiers.org/clinvar/255741 ^@ NM_000287.3(PEX6):c.2936C>T (p.Ala979Val) http://identifiers.org/clinvar/258130 ^@ NM_001458.4(FLNC):c.2122-17T>C http://identifiers.org/clinvar/257880 ^@ NM_001277115.1(DNAH11):c.297G>T (p.Pro99=) http://identifiers.org/clinvar/257930 ^@ NM_001277115.1(DNAH11):c.7626G>T (p.Thr2542=) http://identifiers.org/clinvar/258530 ^@ NM_002047.3(GARS):c.1031+14T>G http://identifiers.org/clinvar/263119 ^@ NM_198428.2(BBS9):c.1546C>A (p.Pro516Thr) http://identifiers.org/clinvar/255441 ^@ NM_000168.5(GLI3):c.4020C>T (p.Pro1340=) http://identifiers.org/clinvar/258980 ^@ NM_003165.3(STXBP1):c.1404C>A (p.Ile468=) http://identifiers.org/clinvar/257180 ^@ NM_001033855.2(DCLRE1C):c.728A>G (p.His243Arg) http://identifiers.org/clinvar/256341 ^@ NM_000518.4(HBB):c.*233G>C http://identifiers.org/clinvar/255491 ^@ NM_000192.3(TBX5):c.1281C>T (p.Ser427=) http://identifiers.org/clinvar/258230 ^@ NM_001844.4(COL2A1):c.2625+9C>T http://identifiers.org/clinvar/256241 ^@ NM_000486.5(AQP2):c.342G>A (p.Gly114=) http://identifiers.org/clinvar/256041 ^@ NM_000424.3(KRT5):c.156G>A (p.Ala52=) http://identifiers.org/clinvar/258580 ^@ NM_002206.2(ITGA7):c.1281+13G>A http://identifiers.org/clinvar/255941 ^@ NM_000359.2(TGM1):c.1146C>A (p.Gly382=) http://identifiers.org/clinvar/257130 ^@ NM_001024858.2(SPTB):c.5799-7C>T http://identifiers.org/clinvar/262380 ^@ NM_138477.2(CDAN1):c.816C>A (p.Thr272=) http://identifiers.org/clinvar/255291 ^@ NM_000138.4(FBN1):c.3204C>T (p.Cys1068=) http://identifiers.org/clinvar/335127 ^@ NM_004369.3(COL6A3):c.3732C>T (p.Ala1244=) http://identifiers.org/clinvar/336216 ^@ NM_000341.3(SLC3A1):c.*100T>C http://identifiers.org/clinvar/336016 ^@ NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) http://identifiers.org/clinvar/336066 ^@ NM_022437.2(ABCG8):c.239G>A (p.Cys80Tyr) http://identifiers.org/clinvar/336116 ^@ NM_133259.3(LRPPRC):c.*1587C>T http://identifiers.org/clinvar/337173 ^@ NM_000821.6(GGCX):c.*4895T>A http://identifiers.org/clinvar/337323 ^@ NM_003896.3(ST3GAL5):c.*594G>A http://identifiers.org/clinvar/334427 ^@ NM_002181.3(IHH):c.*248C>A http://identifiers.org/clinvar/334377 ^@ NM_000784.3(CYP27A1):c.*195G>C http://identifiers.org/clinvar/342303 ^@ NM_016247.3(IMPG2):c.*1578C>T http://identifiers.org/clinvar/334577 ^@ NM_003590.4(CUL3):c.*3531_*3532delAG http://identifiers.org/clinvar/334627 ^@ NM_003590.4(CUL3):c.2052C>T (p.Ser684=) http://identifiers.org/clinvar/334477 ^@ NM_015311.2(OBSL1):c.4334G>A (p.Arg1445Gln) http://identifiers.org/clinvar/334677 ^@ NM_000092.4(COL4A4):c.*1423T>C http://identifiers.org/clinvar/342453 ^@ NM_000551.3(VHL):c.*1887C>A http://identifiers.org/clinvar/337223 ^@ NM_000821.6(GGCX):c.*1965G>T http://identifiers.org/clinvar/334927 ^@ NM_152383.4(DIS3L2):c.-52A>G http://identifiers.org/clinvar/342703 ^@ NM_020754.3(ARHGAP31):c.*1657C>T http://identifiers.org/clinvar/334977 ^@ NM_000751.2(CHRND):c.*144_*145insAG http://identifiers.org/clinvar/335027 ^@ NM_005199.4(CHRNG):c.*610_*611dupTT http://identifiers.org/clinvar/337473 ^@ NM_017849.3(TMEM127):c.*1883_*1886dupTCTG http://identifiers.org/clinvar/342853 ^@ NM_053025.3(MYLK):c.*406G>C http://identifiers.org/clinvar/337523 ^@ NM_014014.4(SNRNP200):c.6369C>T (p.Ser2123=) http://identifiers.org/clinvar/337573 ^@ NM_014014.4(SNRNP200):c.-95G>A http://identifiers.org/clinvar/337623 ^@ NM_001079.3(ZAP70):c.-91T>A http://identifiers.org/clinvar/334777 ^@ NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) http://identifiers.org/clinvar/342953 ^@ NM_000373.3(UMPS):c.*1211C>A http://identifiers.org/clinvar/334827 ^@ NM_000091.4(COL4A3):c.*2742C>T http://identifiers.org/clinvar/342503 ^@ NM_000551.3(VHL):c.*3470G>T http://identifiers.org/clinvar/335077 ^@ NM_000541.4(SAG):c.*90G>A http://identifiers.org/clinvar/342903 ^@ NM_053025.3(MYLK):c.601C>T (p.Leu201=) http://identifiers.org/clinvar/354608 ^@ NM_002397.4(MEF2C):c.-563G>C http://identifiers.org/clinvar/354658 ^@ NM_000439.4(PCSK1):c.-140C>T http://identifiers.org/clinvar/354708 ^@ NM_001491.2(GCNT2):c.761A>G (p.His254Arg) http://identifiers.org/clinvar/357608 ^@ NM_001723.5(DST):c.1672T>G (p.Cys558Gly) http://identifiers.org/clinvar/350682 ^@ NM_032446.2(MEGF10):c.*780A>C http://identifiers.org/clinvar/357808 ^@ NM_001851.4(COL9A1):c.1288-4T>A http://identifiers.org/clinvar/354908 ^@ NM_007214.4(SEC63):c.910C>A (p.Leu304Ile) http://identifiers.org/clinvar/351032 ^@ NM_006790.2(MYOT):c.*190C>G http://identifiers.org/clinvar/350982 ^@ NM_017415.2(KLHL3):c.*108G>A http://identifiers.org/clinvar/358258 ^@ NM_014165.3(NDUFAF4):c.*1008T>C http://identifiers.org/clinvar/358358 ^@ NM_198999.2(SLC26A5):c.153-10G>A http://identifiers.org/clinvar/355209 ^@ NM_006073.3(TRDN):c.*15C>T http://identifiers.org/clinvar/358408 ^@ NM_005045.3(RELN):c.3086T>C (p.Ile1029Thr) http://identifiers.org/clinvar/351082 ^@ NM_022464.4(SIL1):c.699T>C (p.Asn233=) http://identifiers.org/clinvar/351232 ^@ NM_002488.4(NDUFA2):c.-145T>A http://identifiers.org/clinvar/358608 ^@ NM_014491.3(FOXP2):c.1686T>C (p.Phe562=) http://identifiers.org/clinvar/351282 ^@ NM_005219.4(DIAPH1):c.*217C>T http://identifiers.org/clinvar/351432 ^@ NM_054027.4(ANKH):c.*3627G>A http://identifiers.org/clinvar/358658 ^@ NM_014491.3(FOXP2):c.*2818G>C http://identifiers.org/clinvar/351332 ^@ NM_001018077.1(NR3C1):c.*2151A>C http://identifiers.org/clinvar/351382 ^@ NM_002700.2(POU4F3):c.577C>T (p.Arg193Cys) http://identifiers.org/clinvar/358858 ^@ NM_000883.3(IMPDH1):c.*634C>T http://identifiers.org/clinvar/358908 ^@ NM_018718.2(CEP41):c.*3274G>A http://identifiers.org/clinvar/352069 ^@ NM_000112.3(SLC26A2):c.*2790G>A http://identifiers.org/clinvar/352119 ^@ NM_005211.3(CSF1R):c.*64C>T http://identifiers.org/clinvar/352169 ^@ NM_005211.3(CSF1R):c.316C>T (p.Arg106Trp) http://identifiers.org/clinvar/352219 ^@ NM_001135243.1(TCOF1):c.2817A>T (p.Ser939=) http://identifiers.org/clinvar/352319 ^@ NM_000171.3(GLRA1):c.253-14T>C http://identifiers.org/clinvar/352369 ^@ NM_000337.5(SGCD):c.*3413G>C http://identifiers.org/clinvar/352669 ^@ NM_000816.3(GABRG2):c.*1981G>C http://identifiers.org/clinvar/352519 ^@ NM_001099287.1(NIPAL4):c.1014C>T (p.Ser338=) http://identifiers.org/clinvar/352719 ^@ NM_012188.4(FOXI1):c.*535A>G http://identifiers.org/clinvar/360547 ^@ NM_000181.3(GUSB):c.*208T>C http://identifiers.org/clinvar/352969 ^@ NM_003052.4(SLC34A1):c.1227C>A (p.Gly409=) http://identifiers.org/clinvar/360597 ^@ NM_153033.4(KCTD7):c.*863_*865delCCT http://identifiers.org/clinvar/353019 ^@ NM_006261.4(PROP1):c.-210A>C http://identifiers.org/clinvar/352919 ^@ NM_022455.4(NSD1):c.*3141G>A http://identifiers.org/clinvar/353169 ^@ NM_003900.4(SQSTM1):c.*187_*188dupTG http://identifiers.org/clinvar/353219 ^@ NM_016180.4(SLC45A2):c.372T>A (p.Ala124=) http://identifiers.org/clinvar/353069 ^@ NM_014244.4(ADAMTS2):c.*977G>A http://identifiers.org/clinvar/361147 ^@ NM_015713.4(RRM2B):c.*2328A>T http://identifiers.org/clinvar/361247 ^@ NM_178857.5(RP1L1):c.5600C>A (p.Ala1867Asp) http://identifiers.org/clinvar/357758 ^@ NM_001142800.1(EYS):c.-407C>G http://identifiers.org/clinvar/361397 ^@ NM_178857.5(RP1L1):c.675C>T (p.Phe225=) http://identifiers.org/clinvar/361498 ^@ NM_001715.2(BLK):c.*92G>C http://identifiers.org/clinvar/357958 ^@ NM_004415.3(DSP):c.5316T>C (p.Asp1772=) http://identifiers.org/clinvar/358008 ^@ NM_004999.3(MYO6):c.*875C>T http://identifiers.org/clinvar/361707 ^@ NM_014846.3(WASHC5):c.*124A>C http://identifiers.org/clinvar/299749 ^@ NM_014915.2(ANKRD26):c.1269+8_1269+12delCTATG http://identifiers.org/clinvar/363746 ^@ NM_018972.2(GDAP1):c.*1527G>A http://identifiers.org/clinvar/299799 ^@ NM_032844.4(MASTL):c.2263+9T>C http://identifiers.org/clinvar/300249 ^@ NM_000417.2(IL2RA):c.787C>T (p.Arg263Trp) http://identifiers.org/clinvar/364296 ^@ NM_000035.3(ALDOB):c.*612A>G http://identifiers.org/clinvar/364246 ^@ NM_001701.3(BAAT):c.*1998T>C http://identifiers.org/clinvar/364346 ^@ NM_005502.3(ABCA1):c.*1586A>G http://identifiers.org/clinvar/300988 ^@ NM_007055.3(POLR3A):c.*1953G>A http://identifiers.org/clinvar/301038 ^@ NM_007055.3(POLR3A):c.3734G>A (p.Arg1245Gln) http://identifiers.org/clinvar/301188 ^@ NM_000429.2(MAT1A):c.550-5G>A http://identifiers.org/clinvar/365285 ^@ NM_007171.3(POMT1):c.*25C>T http://identifiers.org/clinvar/365485 ^@ NM_000368.4(TSC1):c.*941A>G http://identifiers.org/clinvar/365635 ^@ NM_000787.3(DBH):c.363G>A (p.Gly121=) http://identifiers.org/clinvar/365235 ^@ NM_000113.2(TOR1A):c.-4G>C http://identifiers.org/clinvar/365685 ^@ NM_000787.3(DBH):c.*318C>A http://identifiers.org/clinvar/365385 ^@ NM_000368.4(TSC1):c.*4826A>C http://identifiers.org/clinvar/301738 ^@ NM_016341.3(PLCE1):c.*219C>G http://identifiers.org/clinvar/365936 ^@ NM_006412.3(AGPAT2):c.-4G>C http://identifiers.org/clinvar/365986 ^@ NM_016219.4(MAN1B1):c.*488dupC http://identifiers.org/clinvar/365735 ^@ NM_000093.4(COL5A1):c.5371-12C>T http://identifiers.org/clinvar/366086 ^@ NM_144966.5(FREM1):c.*854_*855dupAA http://identifiers.org/clinvar/301988 ^@ NM_002427.3(MMP13):c.686G>T (p.Gly229Val) http://identifiers.org/clinvar/365785 ^@ NM_000093.4(COL5A1):c.*1887G>A http://identifiers.org/clinvar/302088 ^@ NM_001080463.1(DYNC2H1):c.10185T>G (p.Thr3395=) http://identifiers.org/clinvar/366236 ^@ NM_003070.4(SMARCA2):c.4257A>C (p.Ser1419=) http://identifiers.org/clinvar/302138 ^@ NM_001025389.1(AMPD3):c.-303C>T http://identifiers.org/clinvar/366286 ^@ NM_002451.3(MTAP):c.*1831T>A http://identifiers.org/clinvar/365885 ^@ NM_019892.5(INPP5E):c.1325C>T (p.Thr442Ile) http://identifiers.org/clinvar/302188 ^@ NM_001025389.1(AMPD3):c.*1297T>C http://identifiers.org/clinvar/366036 ^@ NM_024757.4(EHMT1):c.3894A>G (p.Leu1298=) http://identifiers.org/clinvar/310636 ^@ NM_025114.3(CEP290):c.-41C>T http://identifiers.org/clinvar/366386 ^@ NM_000459.4(TEK):c.-354A>G http://identifiers.org/clinvar/310786 ^@ NM_003276.2(TMPO):c.*538C>G http://identifiers.org/clinvar/321860 ^@ NM_000304.3(PMP22):c.*26T>C http://identifiers.org/clinvar/340413 ^@ NM_006657.2(FTCD):c.1540-17_1540-16delTT http://identifiers.org/clinvar/314375 ^@ NM_001040108.1(MLH3):c.3440A>T (p.Asn1147Ile) http://identifiers.org/clinvar/322110 ^@ NM_016239.3(MYO15A):c.642C>T (p.Phe214=) http://identifiers.org/clinvar/340864 ^@ NM_004782.3(SNAP29):c.*1519T>C http://identifiers.org/clinvar/340914 ^@ NM_003073.4(SMARCB1):c.723C>T (p.Ile241=) http://identifiers.org/clinvar/322410 ^@ NM_080669.5(SLC46A1):c.462C>T (p.Leu154=) http://identifiers.org/clinvar/313075 ^@ NM_021914.7(CFL2):c.*2340T>G http://identifiers.org/clinvar/315064 ^@ NM_177438.2(DICER1):c.*2410A>G http://identifiers.org/clinvar/313425 ^@ NM_007374.2(SIX6):c.-174C>G http://identifiers.org/clinvar/341753 ^@ NM_022098.3(XPNPEP3):c.*5410G>A http://identifiers.org/clinvar/315364 ^@ NM_144599.4(NIPA1):c.*3169A>G http://identifiers.org/clinvar/313575 ^@ NM_182914.2(SYNE2):c.12596A>G (p.Asn4199Ser) http://identifiers.org/clinvar/341903 ^@ NM_000262.2(NAGA):c.*12A>C http://identifiers.org/clinvar/315564 ^@ NM_133647.1(SLC12A6):c.*2659A>G http://identifiers.org/clinvar/342103 ^@ NM_015166.3(MLC1):c.1032C>T (p.Asn344=) http://identifiers.org/clinvar/315714 ^@ NM_005159.4(ACTC1):c.-52_-50dupCCG http://identifiers.org/clinvar/313875 ^@ NM_015346.3(ZFYVE26):c.7248A>G (p.Lys2416=) http://identifiers.org/clinvar/323499 ^@ NM_000342.3(SLC4A1):c.*270G>A http://identifiers.org/clinvar/315814 ^@ NM_002225.3(IVD):c.*611T>G http://identifiers.org/clinvar/315914 ^@ NM_138477.2(CDAN1):c.*223G>C http://identifiers.org/clinvar/314125 ^@ NM_031427.3(DNAL1):c.*6161_*6162insCA http://identifiers.org/clinvar/323749 ^@ NM_001193466.1(KANSL1):c.*885delT http://identifiers.org/clinvar/315964 ^@ NM_173500.3(TTBK2):c.*847T>C http://identifiers.org/clinvar/316064 ^@ NM_201631.3(TGM5):c.44C>G (p.Ser15Cys) http://identifiers.org/clinvar/314225 ^@ NM_182894.2(VSX2):c.*1447C>G http://identifiers.org/clinvar/323899 ^@ NM_000212.2(ITGB3):c.*1804A>G http://identifiers.org/clinvar/316164 ^@ NM_014080.4(DUOX2):c.2544G>C (p.Leu848=) http://identifiers.org/clinvar/314275 ^@ NM_000428.2(LTBP2):c.4285C>T (p.Arg1429Trp) http://identifiers.org/clinvar/323949 ^@ NM_000080.3(CHRNE):c.*858G>C http://identifiers.org/clinvar/324099 ^@ NM_000088.3(COL1A1):c.3630C>T (p.His1210=) http://identifiers.org/clinvar/324206 ^@ NM_015294.4(TRIM37):c.810-3dupT http://identifiers.org/clinvar/324558 ^@ NM_000334.4(SCN4A):c.-74G>A http://identifiers.org/clinvar/314914 ^@ NM_004239.4(TRIP11):c.*384A>T http://identifiers.org/clinvar/314964 ^@ NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) http://identifiers.org/clinvar/315014 ^@ NM_000295.4(SERPINA1):c.*500G>A http://identifiers.org/clinvar/317203 ^@ NM_000137.2(FAH):c.81+12G>A http://identifiers.org/clinvar/315464 ^@ NM_000275.2(OCA2):c.1553T>A (p.Leu518His) http://identifiers.org/clinvar/315614 ^@ NM_133647.1(SLC12A6):c.1409G>T (p.Gly470Val) http://identifiers.org/clinvar/315214 ^@ NM_139057.3(ADAMTS17):c.*743G>A http://identifiers.org/clinvar/317704 ^@ NM_000246.3(CIITA):c.2096C>T (p.Pro699Leu) http://identifiers.org/clinvar/317804 ^@ NM_032520.4(GNPTG):c.67G>C (p.Gly23Arg) http://identifiers.org/clinvar/316014 ^@ NM_000119.2(EPB42):c.1310C>T (p.Thr437Ile) http://identifiers.org/clinvar/316214 ^@ NM_001482.2(GATM):c.-171T>C http://identifiers.org/clinvar/318054 ^@ NM_014714.3(IFT140):c.2561C>T (p.Thr854Met) http://identifiers.org/clinvar/318156 ^@ NM_001040114.1(MYH11):c.3879+480A>G http://identifiers.org/clinvar/325848 ^@ NM_000199.3(SGSH):c.88+8C>T http://identifiers.org/clinvar/371819 ^@ NM_004168.3(SDHA):c.1360G>A (p.Ala454Thr) http://identifiers.org/clinvar/371869 ^@ NM_000059.3(BRCA2):c.308dupT (p.Leu103Phefs) http://identifiers.org/clinvar/371919 ^@ NM_024675.3(PALB2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/372019 ^@ NM_004360.4(CDH1):c.49-16C>G http://identifiers.org/clinvar/372119 ^@ NM_032667.6(BSCL2):c.672-2A>G http://identifiers.org/clinvar/372193 ^@ NM_001011.3(RPS7):c.76-1G>T http://identifiers.org/clinvar/372249 ^@ NR_033426.1(ACAD9):n.887C>T http://identifiers.org/clinvar/372820 ^@ NM_020066.4(FMN2):c.4348C>T (p.Arg1450Ter) http://identifiers.org/clinvar/372769 ^@ NM_014946.3(SPAST):c.571delC (p.Arg191Alafs) http://identifiers.org/clinvar/372565 ^@ NM_005633.3(SOS1):c.1316A>C (p.Gln439Pro) http://identifiers.org/clinvar/372513 ^@ NM_005633.3(SOS1):c.3905T>C (p.Ile1302Thr) http://identifiers.org/clinvar/372406 ^@ NM_003188.3(MAP3K7):c.521G>A (p.Cys174Tyr) http://identifiers.org/clinvar/372719 ^@ NM_003172.3(SURF1):c.532_535delAATA (p.Asn178Glufs) http://identifiers.org/clinvar/372355 ^@ NM_030653.3(DDX11):c.1949-1G>A http://identifiers.org/clinvar/372667 ^@ NM_130838.1(UBE3A):c.397G>A (p.Val133Ile) http://identifiers.org/clinvar/372615 ^@ NM_007254.3(PNKP):c.893C>T (p.Ala298Val) http://identifiers.org/clinvar/373814 ^@ NM_000074.2(CD40LG):c.478delC (p.Gln160Serfs) http://identifiers.org/clinvar/372872 ^@ NM_003588.3(CUL4B):c.476A>G (p.Asn159Ser) http://identifiers.org/clinvar/372305 ^@ NM_139058.2(ARX):c.1593_1599dupCATAGCC (p.Ala534Hisfs) http://identifiers.org/clinvar/372460 ^@ NM_000444.5(PHEX):c.1715G>A (p.Gly572Asp) http://identifiers.org/clinvar/374406 ^@ NM_001289396.1(SMARCA2):c.3495G>C (p.Gln1165His) http://identifiers.org/clinvar/374271 ^@ NM_017617.4(NOTCH1):c.6348C>G (p.Tyr2116Ter) http://identifiers.org/clinvar/374341 ^@ NM_018109.3(MTPAP):c.1468G>T (p.Val490Leu) http://identifiers.org/clinvar/374459 ^@ NM_003560.2(PLA2G6):c.209G>A (p.Arg70Gln) http://identifiers.org/clinvar/374509 ^@ NM_001190836.1(DCTN1):c.2434G>A (p.Ala812Thr) http://identifiers.org/clinvar/374559 ^@ NM_005862.2(STAG1):c.659A>G (p.His220Arg) http://identifiers.org/clinvar/374609 ^@ NM_004863.3(SPTLC2):c.1439+3A>G http://identifiers.org/clinvar/374659 ^@ NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) http://identifiers.org/clinvar/374709 ^@ NM_006920.4(SCN1A):c.5637A>G (p.Glu1879=) http://identifiers.org/clinvar/374759 ^@ NM_024306.4(FA2H):c.205C>T (p.His69Tyr) http://identifiers.org/clinvar/374819 ^@ NM_000141.4(FGFR2):c.1025G>T (p.Cys342Phe) http://identifiers.org/clinvar/374869 ^@ NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr) http://identifiers.org/clinvar/374935 ^@ NM_006796.2(AFG3L2):c.1951A>G (p.Arg651Gly) http://identifiers.org/clinvar/374987 ^@ NM_001024845.2(SLC6A9):c.1498C>T (p.Gln500Ter) http://identifiers.org/clinvar/375267 ^@ NM_003482.3(KMT2D):c.11475_11478delACAG (p.Gln3826Cysfs) http://identifiers.org/clinvar/375321 ^@ NM_000500.7(CYP21A2):c.377C>G (p.Ser126Ter) http://identifiers.org/clinvar/375372 ^@ NM_001164342.2(ZBTB20):c.1786C>T (p.His596Tyr) http://identifiers.org/clinvar/375427 ^@ NM_001453.2(FOXC1):c.599_617del19 (p.Gln200Argfs) http://identifiers.org/clinvar/375493 ^@ NM_001003694.1(BRPF1):c.104dupA (p.Tyr35Terfs) http://identifiers.org/clinvar/375546 ^@ NM_007294.3(BRCA1):c.4243G>T (p.Glu1415Ter) http://identifiers.org/clinvar/375613 ^@ NM_001256182.1(ANKRD11):c.6212C>G (p.Ser2071Ter) http://identifiers.org/clinvar/375664 ^@ NM_000110.3(DPYD):c.1905+1G>C http://identifiers.org/clinvar/375758 ^@ NM_000517.4(HBA2):c.340_351delCTCCCCGCCGAG (p.Leu114_Glu117del) http://identifiers.org/clinvar/375808 ^@ NM_000527.4(LDLR):c.1135T>G (p.Cys379Gly) http://identifiers.org/clinvar/375858 ^@ NM_001256849.1(POLD1):c.3041G>A (p.Gly1014Asp) http://identifiers.org/clinvar/375911 ^@ NM_000222.2(KIT):c.1674G>T (p.Lys558Asn) http://identifiers.org/clinvar/391343 ^@ NM_022893.3(BCL11A):c.263C>A (p.Ser88Ter) http://identifiers.org/clinvar/392493 ^@ NM_133259.3(LRPPRC):c.408A>G (p.Glu136=) http://identifiers.org/clinvar/377417 ^@ NM_014049.4(ACAD9):c.454-19C>A http://identifiers.org/clinvar/389404 ^@ NM_003849.3(SUCLG1):c.384C>T (p.Ala128=) http://identifiers.org/clinvar/383765 ^@ NM_015120.4(ALMS1):c.12178C>T (p.Leu4060=) http://identifiers.org/clinvar/392643 ^@ NM_004321.7(KIF1A):c.720+5G>C http://identifiers.org/clinvar/384165 ^@ NM_001904.3(CTNNB1):c.2138-1G>C http://identifiers.org/clinvar/384015 ^@ NM_005051.2(QARS):c.704-5G>T http://identifiers.org/clinvar/377468 ^@ NM_001148.4(ANK2):c.-18C>G http://identifiers.org/clinvar/392543 ^@ NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) http://identifiers.org/clinvar/391893 ^@ NM_024582.4(FAT4):c.524G>T (p.Arg175Leu) http://identifiers.org/clinvar/392143 ^@ NM_006005.3(WFS1):c.342C>T (p.Ala114=) http://identifiers.org/clinvar/378576 ^@ NM_000337.5(SGCD):c.294+15A>C http://identifiers.org/clinvar/379467 ^@ NM_000038.5(APC):c.46C>T (p.Leu16=) http://identifiers.org/clinvar/379567 ^@ NM_000388.3(CASR):c.2611G>T (p.Glu871Ter) http://identifiers.org/clinvar/377868 ^@ NM_001999.3(FBN2):c.4472-11A>T http://identifiers.org/clinvar/387415 ^@ NM_017651.4(AHI1):c.1533T>G (p.Val511=) http://identifiers.org/clinvar/379717 ^@ NM_022455.4(NSD1):c.5182G>C (p.Ala1728Pro) http://identifiers.org/clinvar/389854 ^@ NM_152393.3(KLHL40):c.1754+16G>A http://identifiers.org/clinvar/380619 ^@ NM_000255.3(MUT):c.1410A>G (p.Glu470=) http://identifiers.org/clinvar/391543 ^@ NM_004415.3(DSP):c.1545G>A (p.Pro515=) http://identifiers.org/clinvar/380018 ^@ NM_013391.3(DMGDH):c.-6-6C>G http://identifiers.org/clinvar/392393 ^@ NM_006348.3(COG5):c.2217A>G (p.Arg739=) http://identifiers.org/clinvar/380268 ^@ NM_004333.4(BRAF):c.1860+16A>G http://identifiers.org/clinvar/377568 ^@ NM_004333.4(BRAF):c.1141-12A>G http://identifiers.org/clinvar/391843 ^@ NM_021942.5(TRAPPC11):c.3062C>T (p.Pro1021Leu) http://identifiers.org/clinvar/386765 ^@ NM_000038.5(APC):c.3060A>G (p.Glu1020=) http://identifiers.org/clinvar/389204 ^@ NM_020320.4(RARS2):c.588C>T (p.Ser196=) http://identifiers.org/clinvar/379667 ^@ NM_004519.3(KCNQ3):c.-7G>C http://identifiers.org/clinvar/380168 ^@ NM_001916.4(CYC1):c.444G>C (p.Leu148=) http://identifiers.org/clinvar/388754 ^@ NM_002489.3(NDUFA4):c.-6G>A http://identifiers.org/clinvar/379817 ^@ NM_001182.4(ALDH7A1):c.-13T>G http://identifiers.org/clinvar/387865 ^@ NM_005431.1(XRCC2):c.39+12C>T http://identifiers.org/clinvar/379617 ^@ NM_004387.3(NKX2-5):c.777C>G (p.Tyr259Ter) http://identifiers.org/clinvar/386715 ^@ NM_002454.2(MTRR):c.1819G>A (p.Val607Ile) http://identifiers.org/clinvar/388954 ^@ NM_000445.4(PLEC):c.7110G>A (p.Ala2370=) http://identifiers.org/clinvar/389054 ^@ NM_017651.4(AHI1):c.3160C>G (p.Pro1054Ala) http://identifiers.org/clinvar/387315 ^@ NM_001130438.2(SPTAN1):c.3156G>A (p.Gln1052=) http://identifiers.org/clinvar/392243 ^@ NM_003829.4(MPDZ):c.5032T>G (p.Leu1678Val) http://identifiers.org/clinvar/378070 ^@ NM_006059.3(LAMC3):c.2890+15T>A http://identifiers.org/clinvar/391693 ^@ NM_019892.5(INPP5E):c.1456C>T (p.Arg486Cys) http://identifiers.org/clinvar/133157 ^@ NM_000540.2(RYR1):c.6387C>G (p.Asp2129Glu) http://identifiers.org/clinvar/133207 ^@ NM_000540.2(RYR1):c.7523G>A (p.Arg2508His) http://identifiers.org/clinvar/133283 ^@ NM_000546.5(TP53):c.450_459delACCCCCGCCC (p.Pro151Alafs) http://identifiers.org/clinvar/133349 ^@ NM_144997.5(FLCN):c.396+55G>T http://identifiers.org/clinvar/133399 ^@ NM_003820.3(TNFRSF14):c.305-653T>C http://identifiers.org/clinvar/133449 ^@ NM_007313.2(ABL1):c.344A>G (p.Asn115Ser) http://identifiers.org/clinvar/133499 ^@ NM_152424.3(AMER1):c.790G>A (p.Ala264Thr) http://identifiers.org/clinvar/133650 ^@ NM_000489.4(ATRX):c.2680A>C (p.Thr894Pro) http://identifiers.org/clinvar/133700 ^@ NM_000057.3(BLM):c.3278C>T (p.Ser1093Leu) http://identifiers.org/clinvar/133754 ^@ NM_032043.2(BRIP1):c.2284C>T (p.Arg762Cys) http://identifiers.org/clinvar/133804 ^@ NM_032415.5(CARD11):c.572A>G (p.Asn191Ser) http://identifiers.org/clinvar/133854 ^@ NM_004360.4(CDH1):c.1214A>G (p.Asn405Ser) http://identifiers.org/clinvar/133904 ^@ NM_015125.4(CIC):c.2389G>A (p.Gly797Ser) http://identifiers.org/clinvar/133954 ^@ NM_001904.3(CTNNB1):c.860A>G (p.Asn287Ser) http://identifiers.org/clinvar/134004 ^@ NM_001077706.2(ECT2L):c.2615G>A (p.Gly872Asp) http://identifiers.org/clinvar/134056 ^@ NM_001429.3(EP300):c.5147G>C (p.Ser1716Thr) http://identifiers.org/clinvar/134106 ^@ NM_000400.3(ERCC2):c.2263C>T (p.Gln755Ter) http://identifiers.org/clinvar/134156 ^@ NM_005236.2(ERCC4):c.1523G>A (p.Gly508Glu) http://identifiers.org/clinvar/134206 ^@ NM_000401.3(EXT2):c.2152G>A (p.Gly718Arg) http://identifiers.org/clinvar/134256 ^@ NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) http://identifiers.org/clinvar/134307 ^@ NM_001243744.1(FANCC):c.1393_1395delCCT (p.Pro465del) http://identifiers.org/clinvar/134358 ^@ NM_004629.1(FANCG):c.20C>T (p.Ser7Phe) http://identifiers.org/clinvar/134408 ^@ NM_000142.4(FGFR3):c.2149G>A (p.Ala717Thr) http://identifiers.org/clinvar/134458 ^@ NM_003902.4(FUBP1):c.1588A>G (p.Thr530Ala) http://identifiers.org/clinvar/134508 ^@ NM_000545.6(HNF1A):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/134558 ^@ NM_004972.3(JAK2):c.406A>T (p.Ile136Leu) http://identifiers.org/clinvar/134608 ^@ NM_002253.2(KDR):c.2674A>G (p.Ile892Val) http://identifiers.org/clinvar/134660 ^@ NM_003482.3(KMT2D):c.1677_1703del27 (p.Glu560_Glu568del) http://identifiers.org/clinvar/134711 ^@ NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) http://identifiers.org/clinvar/134864 ^@ NM_001128425.1(MUTYH):c.1309C>T (p.Arg437Trp) http://identifiers.org/clinvar/134915 ^@ NM_017617.4(NOTCH1):c.2247C>G (p.Asn749Lys) http://identifiers.org/clinvar/134965 ^@ NM_024408.3(NOTCH2):c.3206G>A (p.Arg1069Gln) http://identifiers.org/clinvar/135015 ^@ NM_006206.4(PDGFRA):c.2230C>T (p.Pro744Ser) http://identifiers.org/clinvar/135066 ^@ NM_000535.6(PMS2):c.1708A>G (p.Asn570Asp) http://identifiers.org/clinvar/135117 ^@ NM_000321.2(RB1):c.1677A>T (p.Glu559Asp) http://identifiers.org/clinvar/135168 ^@ NM_004260.3(RECQL4):c.712G>A (p.Glu238Lys) http://identifiers.org/clinvar/135198 ^@ NM_003002.3(SDHD):c.255G>T (p.Leu85Phe) http://identifiers.org/clinvar/135248 ^@ NM_001128849.1(SMARCA4):c.4387C>T (p.Arg1463Cys) http://identifiers.org/clinvar/135299 ^@ NM_001127208.2(TET2):c.5914G>C (p.Ala1972Pro) http://identifiers.org/clinvar/135349 ^@ NM_003820.3(TNFRSF14):c.50A>G (p.Lys17Arg) http://identifiers.org/clinvar/135400 ^@ NM_000369.2(TSHR):c.2181G>C (p.Glu727Asp) http://identifiers.org/clinvar/136197 ^@ NM_130838.1(UBE3A):c.688G>T (p.Glu230Ter) http://identifiers.org/clinvar/136248 ^@ NM_020297.3(ABCC9):c.817-17C>T http://identifiers.org/clinvar/136299 ^@ NM_020247.4(COQ8A):c.291C>T (p.Ser97=) http://identifiers.org/clinvar/136350 ^@ NM_005751.4(AKAP9):c.3504A>G (p.Glu1168=) http://identifiers.org/clinvar/184500 ^@ NM_007294.3(BRCA1):c.5550G>C (p.Leu1850=) http://identifiers.org/clinvar/187241 ^@ NM_007294.3(BRCA1):c.1342C>T (p.His448Tyr) http://identifiers.org/clinvar/186539 ^@ NM_007294.3(BRCA1):c.845C>T (p.Ser282Leu) http://identifiers.org/clinvar/184900 ^@ NM_058216.2(RAD51C):c.79C>T (p.Leu27=) http://identifiers.org/clinvar/185550 ^@ NM_058216.2(RAD51C):c.114C>T (p.Leu38=) http://identifiers.org/clinvar/186891 ^@ NM_032043.2(BRIP1):c.3546C>T (p.Ala1182=) http://identifiers.org/clinvar/184650 ^@ NM_000546.5(TP53):c.555C>T (p.Ser185=) http://identifiers.org/clinvar/187091 ^@ NM_007194.3(CHEK2):c.688G>T (p.Ala230Ser) http://identifiers.org/clinvar/188024 ^@ NM_004409.4(DMPK):c.*224_*226[72] http://identifiers.org/clinvar/188227 ^@ NM_014946.3(SPAST):c.1414-1G>C http://identifiers.org/clinvar/188176 ^@ NM_000038.5(APC):c.5213A>C (p.His1738Pro) http://identifiers.org/clinvar/188125 ^@ NM_000051.3(ATM):c.72+1G>A http://identifiers.org/clinvar/188074 ^@ NM_015087.4(SPG20):c.720T>A (p.Ser240Arg) http://identifiers.org/clinvar/189085 ^@ NM_000137.2(FAH):c.192+1G>T http://identifiers.org/clinvar/189185 ^@ NM_000071.2(CBS):c.302T>C (p.Leu101Pro) http://identifiers.org/clinvar/189135 ^@ NM_000500.7:c.*28699312C>T http://identifiers.org/clinvar/189252 ^@ NM_021956.4(GRIK2):c.592C>T (p.Arg198Ter) http://identifiers.org/clinvar/189305 ^@ NM_000384.2(APOB):c.2585T>C (p.Val862Ala) http://identifiers.org/clinvar/189379 ^@ NM_025132.3(WDR19):c.203T>A (p.Val68Asp) http://identifiers.org/clinvar/189525 ^@ NM_000314.6(PTEN):c.-700G>A http://identifiers.org/clinvar/189453 ^@ NM_000314.6(PTEN):c.875dupA (p.Asn292Lysfs) http://identifiers.org/clinvar/189725 ^@ NM_004992.3(MECP2):c.830_831ins23 (p.?) http://identifiers.org/clinvar/189625 ^@ NM_004992.3(MECP2):c.377+30G>A http://identifiers.org/clinvar/189775 ^@ NM_001110792.1(MECP2):c.59_60delGA (p.Arg20Thrfs) http://identifiers.org/clinvar/189575 ^@ NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del http://identifiers.org/clinvar/189675 ^@ NM_004992.3:c.(?_184)_(1065_?)del http://identifiers.org/clinvar/189859 ^@ NM_001165963.1(SCN1A):c.5536A>T (p.Lys1846Ter) http://identifiers.org/clinvar/189909 ^@ NM_001165963.1(SCN1A):c.2299_2302dupGACC (p.Pro768Argfs) http://identifiers.org/clinvar/190009 ^@ NM_001165963.1(SCN1A):c.964+14T>G http://identifiers.org/clinvar/189959 ^@ NM_001165963.1(SCN1A):c.289_292delAAGG (p.Lys97Profs) http://identifiers.org/clinvar/190130 ^@ NM_001451.2(FOXF1):c.658G>T (p.Gly220Cys) http://identifiers.org/clinvar/190194 ^@ NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) http://identifiers.org/clinvar/190250 ^@ NM_021728.3(OTX2):c.289C>T (p.Arg97Ter) http://identifiers.org/clinvar/190328 ^@ NM_004974.3(KCNA2):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/190385 ^@ NM_016343.3(CENPF):c.1744G>T (p.Glu582Ter) http://identifiers.org/clinvar/227320 ^@ NM_001277115.1(DNAH11):c.13050-15C>T http://identifiers.org/clinvar/227219 ^@ NM_022124.5(CDH23):c.2067G>A (p.Thr689=) http://identifiers.org/clinvar/227069 ^@ NM_001098668.3(SFTPA2):c.420C>T (p.Ser140=) http://identifiers.org/clinvar/226868 ^@ NM_001277269.1(OTOG):c.2376G>A (p.Pro792=) http://identifiers.org/clinvar/226918 ^@ NM_001277269.1(OTOG):c.8298C>T (p.Phe2766=) http://identifiers.org/clinvar/226718 ^@ NM_001145308.4(LRTOMT):c.-52G>C http://identifiers.org/clinvar/226968 ^@ NM_173591.3(OTOGL):c.6375G>T (p.Leu2125Phe) http://identifiers.org/clinvar/226818 ^@ NM_003803.3(MYOM1):c.3453T>A (p.Asp1151Glu) http://identifiers.org/clinvar/226618 ^@ NM_032975.3(DTNA):c.1623G>A (p.Gly541=) http://identifiers.org/clinvar/226518 ^@ NM_006012.2(CLPP):c.368-10C>T http://identifiers.org/clinvar/226568 ^@ NM_004006.2(DMD):c.8218-798G>A http://identifiers.org/clinvar/227018 ^@ NM_000445.4(PLEC):c.1345-15G>A http://identifiers.org/clinvar/227169 ^@ NM_001614.3(ACTG1):c.72C>T (p.Asp24=) http://identifiers.org/clinvar/234718 ^@ NM_018136.4(ASPM):c.4732C>T (p.Arg1578Ter) http://identifiers.org/clinvar/234919 ^@ NM_002977.3(SCN9A):c.488A>G (p.Tyr163Cys) http://identifiers.org/clinvar/234768 ^@ NM_000179.2(MSH6):c.910G>A (p.Val304Met) http://identifiers.org/clinvar/234869 ^@ NM_000535.6(PMS2):c.1329A>T (p.Arg443Ser) http://identifiers.org/clinvar/234818 ^@ NM_000059.3(BRCA2):c.5962delG (p.Val1988Tyrfs) http://identifiers.org/clinvar/232892 ^@ NM_003001.3(SDHC):c.54T>G (p.Phe18Leu) http://identifiers.org/clinvar/232291 ^@ NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) http://identifiers.org/clinvar/229902 ^@ NM_000465.3(BARD1):c.2002-2A>T http://identifiers.org/clinvar/231202 ^@ NM_000465.3(BARD1):c.1949A>T (p.Lys650Met) http://identifiers.org/clinvar/231941 ^@ NM_000465.3(BARD1):c.1573A>G (p.Ile525Val) http://identifiers.org/clinvar/230452 ^@ NM_000465.3(BARD1):c.1525A>G (p.Ile509Val) http://identifiers.org/clinvar/232592 ^@ NM_000251.2(MSH2):c.787A>C (p.Asn263His) http://identifiers.org/clinvar/229952 ^@ NM_000179.2(MSH6):c.170_182delCCAGGCCCTTGGC (p.Pro57Argfs) http://identifiers.org/clinvar/233242 ^@ NM_000179.2(MSH6):c.3417C>T (p.Gly1139=) http://identifiers.org/clinvar/232091 ^@ NM_000179.2(MSH6):c.3467T>C (p.Met1156Thr) http://identifiers.org/clinvar/232391 ^@ NM_000179.2(MSH6):c.3652G>C (p.Gly1218Arg) http://identifiers.org/clinvar/230802 ^@ NM_000249.3(MLH1):c.29G>A (p.Arg10Gln) http://identifiers.org/clinvar/230752 ^@ NM_000249.3(MLH1):c.461A>T (p.Asp154Val) http://identifiers.org/clinvar/230352 ^@ NM_000038.5(APC):c.3479C>T (p.Thr1160Ile) http://identifiers.org/clinvar/264227 ^@ NM_000138.4(FBN1):c.762C>T (p.Pro254=) http://identifiers.org/clinvar/263877 ^@ NM_002474.2(MYH11):c.4681G>A (p.Ala1561Thr) http://identifiers.org/clinvar/263577 ^@ NM_002474.2(MYH11):c.811G>A (p.Ala271Thr) http://identifiers.org/clinvar/263977 ^@ NM_002474.2(MYH11):c.190G>C (p.Glu64Gln) http://identifiers.org/clinvar/263424 ^@ NM_003098.2(SNTA1):c.807T>C (p.Asn269=) http://identifiers.org/clinvar/264583 ^@ NM_030777.3(SLC2A10):c.367G>A (p.Val123Met) http://identifiers.org/clinvar/264127 ^@ NM_006440.4(TXNRD2):c.303A>G (p.Ala101=) http://identifiers.org/clinvar/263374 ^@ NM_032578.2:c.2886T>C http://identifiers.org/clinvar/264697 ^@ NM_001017535.1(VDR):c.1190A>C (p.His397Pro) http://identifiers.org/clinvar/264748 ^@ NM_001242896.1(DEPDC5):c.56G>C (p.Ser19Thr) http://identifiers.org/clinvar/264953 ^@ NM_000059.3(BRCA2):c.*855C>A http://identifiers.org/clinvar/265664 ^@ NM_001165963.1(SCN1A):c.4158_4163delCATCGAinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1386Glufs) http://identifiers.org/clinvar/265005 ^@ NM_173076.2(ABCA12):c.3889C>T (p.Arg1297Ter) http://identifiers.org/clinvar/265108 ^@ NM_003494.3(DYSF):c.331C>T (p.Gln111Ter) http://identifiers.org/clinvar/265158 ^@ NM_001453.2(FOXC1):c.246C>G (p.Ser82Arg) http://identifiers.org/clinvar/265210 ^@ NM_020822.2(KCNT1):c.1420C>T (p.Arg474Cys) http://identifiers.org/clinvar/265313 ^@ NM_002247.3(KCNMA1):c.2984A>G (p.Asn995Ser) http://identifiers.org/clinvar/265513 ^@ NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) http://identifiers.org/clinvar/265564 ^@ NM_000051.3(ATM):c.7299_7302delGACA (p.Asn2435Aspfs) http://identifiers.org/clinvar/265463 ^@ NM_004183.3(BEST1):c.636+1G>A http://identifiers.org/clinvar/265058 ^@ NM_000059.3(BRCA2):c.6481_6484delGACA (p.Asp2161Asnfs) http://identifiers.org/clinvar/265363 ^@ NM_005249.4(FOXG1):c.561C>G (p.Asn187Lys) http://identifiers.org/clinvar/265262 ^@ NM_052874.4(STX1B):c.845T>C (p.Ile282Thr) http://identifiers.org/clinvar/265614 ^@ NM_004614.4(TK2):c.372_373delTCinsCT (p.Gln125Ter) http://identifiers.org/clinvar/265413 ^@ NM_004006.2(DMD):c.5314A>T (p.Lys1772Ter) http://identifiers.org/clinvar/265746 ^@ NM_024818.4(UBA5):c.164G>A (p.Arg55His) http://identifiers.org/clinvar/265843 ^@ NM_012343.3(NNT):c.385C>T (p.Arg129Ter) http://identifiers.org/clinvar/265903 ^@ NM_000527.4(LDLR):c.1499T>C (p.Val500Ala) http://identifiers.org/clinvar/265954 ^@ NM_198947.3(FAM111B):c.1289A>C (p.Gln430Pro) http://identifiers.org/clinvar/266008 ^@ NM_000091.4(COL4A3):c.2610G>A (p.Leu870=) http://identifiers.org/clinvar/266085 ^@ NG_009312.1:g.(19335_22476)_(28317_39545)del http://identifiers.org/clinvar/266535 ^@ NM_007294.3(BRCA1):c.5213delG (p.Gly1738Glufs) http://identifiers.org/clinvar/266485 ^@ NM_007294.3(BRCA1):c.4591delG (p.Val1531Leufs) http://identifiers.org/clinvar/266435 ^@ NM_007294.3(BRCA1):c.4066C>T (p.Gln1356Ter) http://identifiers.org/clinvar/266285 ^@ NM_007294.3(BRCA1):c.2617delT (p.Ser873Glnfs) http://identifiers.org/clinvar/266235 ^@ NM_007294.3(BRCA1):c.2198dupA (p.Lys734Glufs) http://identifiers.org/clinvar/266185 ^@ NM_007294.3(BRCA1):c.1762dupA (p.Ser588Lysfs) http://identifiers.org/clinvar/266385 ^@ NM_007294.3(BRCA1):c.357_358delAGinsT (p.Lys119Asnfs) http://identifiers.org/clinvar/266335 ^@ NM_007294.3(BRCA1):c.310delA (p.Ser104Alafs) http://identifiers.org/clinvar/267244 ^@ NM_015247.2(CYLD):c.2041G>C (p.Asp681His) http://identifiers.org/clinvar/267319 ^@ NM_022162.2(NOD2):c.2197G>T http://identifiers.org/clinvar/267392 ^@ c.3245_3247delATCinsTGAT http://identifiers.org/clinvar/267475 ^@ NC_000016.9:g.(?_87340135)_(89335428_?)del http://identifiers.org/clinvar/267631 ^@ NM_000059.3(BRCA2):c.-227-?_67+?dup http://identifiers.org/clinvar/267681 ^@ NM_000059.3(BRCA2):c.7436-?_8331+?dup http://identifiers.org/clinvar/267581 ^@ NM_007294.3(BRCA1):c.5194-?_5277+?dup http://identifiers.org/clinvar/267531 ^@ NM_007294.3(BRCA1):c.4186-832_4357+1955del http://identifiers.org/clinvar/267731 ^@ NM_022336.3(EDAR):c.1284T>A (p.Cys428Ter) http://identifiers.org/clinvar/267810 ^@ 46;XX;t(4;15)(q31.3;q15) http://identifiers.org/clinvar/267861 ^@ 46;XX;t(2;11)(q11.2;p13)dn http://identifiers.org/clinvar/267911 ^@ 46;XY;t(4;7)(q31;q22)dn http://identifiers.org/clinvar/267961 ^@ 46;XY;t(4;14)(p15.1;q13) http://identifiers.org/clinvar/268011 ^@ 46;XX;t(17;22)(q23;q12.2)dn http://identifiers.org/clinvar/268064 ^@ NC_000018.9:g.(?_38768209)_(39662517_?)dup http://identifiers.org/clinvar/268127 ^@ NM_018263.5(ASXL2):c.1288G>T (p.Glu430Ter) http://identifiers.org/clinvar/268195 ^@ NC_000023.10:g.(?_152193146)_(152415138_?)dup http://identifiers.org/clinvar/279607 ^@ NM_030813.5(CLPB):c.1456T>C (p.Cys486Arg) http://identifiers.org/clinvar/290914 ^@ NM_182961.3(SYNE1):c.6094G>A (p.Glu2032Lys) http://identifiers.org/clinvar/291622 ^@ NM_015074.3(KIF1B):c.*2379T>C http://identifiers.org/clinvar/291672 ^@ NM_004565.2(PEX14):c.208T>G (p.Ser70Ala) http://identifiers.org/clinvar/291722 ^@ NM_005272.3(GNAT2):c.369C>T (p.Leu123=) http://identifiers.org/clinvar/293311 ^@ NM_000530.7(MPZ):c.*52G>A http://identifiers.org/clinvar/293411 ^@ NM_004431.4(EPHA2):c.2374C>A (p.Arg792=) http://identifiers.org/clinvar/293111 ^@ NM_002241.4(KCNJ10):c.*680T>G http://identifiers.org/clinvar/293511 ^@ NM_006996.2(SLC19A2):c.*1523A>G http://identifiers.org/clinvar/293561 ^@ NM_000130.4(F5):c.*476C>T http://identifiers.org/clinvar/293611 ^@ NM_000130.4(F5):c.3307A>T (p.Asn1103Tyr) http://identifiers.org/clinvar/293761 ^@ NM_022089.3(ATP13A2):c.*155C>T http://identifiers.org/clinvar/293161 ^@ NM_000702.3(ATP1A2):c.*1035A>G http://identifiers.org/clinvar/293211 ^@ NM_002857.3(PEX19):c.*1084T>C http://identifiers.org/clinvar/293961 ^@ NM_002065.6(GLUL):c.-370+10delC http://identifiers.org/clinvar/294011 ^@ NM_005562.2(LAMC2):c.2681G>A (p.Arg894His) http://identifiers.org/clinvar/294111 ^@ NM_031935.2(HMCN1):c.1956C>T (p.Ile652=) http://identifiers.org/clinvar/294061 ^@ NM_000433.3(NCF2):c.*543_*546delGTTT http://identifiers.org/clinvar/293261 ^@ NM_004550.4(NDUFS2):c.-388G>A http://identifiers.org/clinvar/294211 ^@ NM_031935.2(HMCN1):c.9516A>T (p.Thr3172=) http://identifiers.org/clinvar/293361 ^@ NM_003001.3(SDHC):c.*1898C>A http://identifiers.org/clinvar/294261 ^@ NM_031935.2(HMCN1):c.13231-4A>G http://identifiers.org/clinvar/293461 ^@ NM_005149.2(TBX19):c.603+6_603+7insCTGTGT http://identifiers.org/clinvar/294361 ^@ NM_003748.3(ALDH4A1):c.*12delG http://identifiers.org/clinvar/294411 ^@ NM_024529.4(CDC73):c.201G>A (p.Val67=) http://identifiers.org/clinvar/294561 ^@ NM_030787.3(CFHR5):c.*745C>A http://identifiers.org/clinvar/293661 ^@ NM_152281.2(GORAB):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/293711 ^@ NM_000261.1(MYOC):c.975G>A (p.Thr325=) http://identifiers.org/clinvar/293811 ^@ NM_018122.4(DARS2):c.-533G>A http://identifiers.org/clinvar/293861 ^@ NM_033343.3(LHX4):c.146A>G (p.His49Arg) http://identifiers.org/clinvar/293911 ^@ NM_002065.6(GLUL):c.*1510G>T http://identifiers.org/clinvar/336166 ^@ NM_133259.3(LRPPRC):c.1305T>C (p.Phe435=) http://identifiers.org/clinvar/343942 ^@ NM_024996.5(GFM1):c.*454_*456delGTT http://identifiers.org/clinvar/337073 ^@ NM_004082.4(DCTN1):c.3498G>A (p.Thr1166=) http://identifiers.org/clinvar/337123 ^@ NM_013247.4(HTRA2):c.-216G>A http://identifiers.org/clinvar/337423 ^@ NM_004836.6(EIF2AK3):c.-162G>A http://identifiers.org/clinvar/337273 ^@ NM_000821.6(GGCX):c.529A>G (p.Asn177Asp) http://identifiers.org/clinvar/337373 ^@ NM_022912.2(REEP1):c.*1318C>T http://identifiers.org/clinvar/337673 ^@ NM_001298.2(CNGA3):c.*178C>T http://identifiers.org/clinvar/342253 ^@ NM_033084.4(FANCD2):c.-6G>C http://identifiers.org/clinvar/342353 ^@ NM_016247.3(IMPG2):c.1169G>A (p.Arg390His) http://identifiers.org/clinvar/342403 ^@ NM_000551.3(VHL):c.11G>T (p.Arg4Met) http://identifiers.org/clinvar/342553 ^@ NM_198196.2(CD96):c.*191G>A http://identifiers.org/clinvar/342653 ^@ NM_020754.3(ARHGAP31):c.1926+13C>A http://identifiers.org/clinvar/342603 ^@ NM_000796.5(DRD3):c.51A>G (p.Ala17=) http://identifiers.org/clinvar/342803 ^@ NM_000388.3(CASR):c.2955C>T (p.Asn985=) http://identifiers.org/clinvar/342753 ^@ NM_000187.3(HGD):c.142G>T (p.Ala48Ser) http://identifiers.org/clinvar/343003 ^@ NM_000373.3(UMPS):c.*3359G>T http://identifiers.org/clinvar/347891 ^@ NM_004744.4(LRAT):c.*3958G>A http://identifiers.org/clinvar/347991 ^@ NM_006017.2(PROM1):c.1491G>T (p.Leu497Phe) http://identifiers.org/clinvar/348041 ^@ NM_001166108.1(PALLD):c.1842T>A (p.His614Gln) http://identifiers.org/clinvar/343842 ^@ NM_005677.3(COLQ):c.*189C>T http://identifiers.org/clinvar/343892 ^@ NM_005677.3(COLQ):c.-96C>T http://identifiers.org/clinvar/348391 ^@ NM_000128.3(F11):c.*852G>A http://identifiers.org/clinvar/358158 ^@ NM_022726.3(ELOVL4):c.-248G>A http://identifiers.org/clinvar/358458 ^@ NM_006348.3(COG5):c.1782T>G (p.Val594=) http://identifiers.org/clinvar/362546 ^@ NM_003018.3(SFTPC):c.-91C>T http://identifiers.org/clinvar/358758 ^@ NM_012338.3(TSPAN12):c.*103C>A http://identifiers.org/clinvar/362696 ^@ NM_000742.3(CHRNA2):c.339+10C>A http://identifiers.org/clinvar/358958 ^@ NM_005989.3(AKR1D1):c.*58G>C http://identifiers.org/clinvar/362746 ^@ NM_001017420.2(ESCO2):c.*34G>A http://identifiers.org/clinvar/354808 ^@ NM_007214.4(SEC63):c.*3800A>G http://identifiers.org/clinvar/363046 ^@ NM_000037.3(ANK1):c.660C>T (p.Asn220=) http://identifiers.org/clinvar/354758 ^@ NM_020381.3(PDSS2):c.*769G>A http://identifiers.org/clinvar/354858 ^@ NM_007214.4(SEC63):c.*1931dupA http://identifiers.org/clinvar/355159 ^@ NM_000165.4(GJA1):c.270C>G (p.Leu90=) http://identifiers.org/clinvar/355058 ^@ NM_003880.3(WISP3):c.78A>T (p.Pro26=) http://identifiers.org/clinvar/363546 ^@ NM_000370.3(TTPA):c.*806C>T http://identifiers.org/clinvar/355109 ^@ NM_000493.3(COL10A1):c.256G>A (p.Gly86Arg) http://identifiers.org/clinvar/355259 ^@ NM_000426.3(LAMA2):c.2686C>T (p.Arg896Trp) http://identifiers.org/clinvar/363646 ^@ NM_000503.5(EYA1):c.*23G>A http://identifiers.org/clinvar/361047 ^@ NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) http://identifiers.org/clinvar/360447 ^@ NM_000790.3(DDC):c.-78C>T http://identifiers.org/clinvar/360497 ^@ NM_004577.3(PSPH):c.*361A>G http://identifiers.org/clinvar/360647 ^@ NM_000501.3(ELN):c.1096+45_1096+50delGTGTGT http://identifiers.org/clinvar/360797 ^@ NM_000443.3(ABCB4):c.1982G>A (p.Arg661His) http://identifiers.org/clinvar/365185 ^@ NM_001130438.2(SPTAN1):c.*111G>T http://identifiers.org/clinvar/365335 ^@ NM_015046.5(SETX):c.*266A>G http://identifiers.org/clinvar/361448 ^@ NM_001385.2(DPYS):c.1350C>T (p.Ala450=) http://identifiers.org/clinvar/365535 ^@ NM_139025.4(ADAMTS13):c.415-5C>T http://identifiers.org/clinvar/361347 ^@ NM_178857.5(RP1L1):c.2396C>T (p.Thr799Met) http://identifiers.org/clinvar/361607 ^@ NM_014112.4(TRPS1):c.3202G>A (p.Val1068Ile) http://identifiers.org/clinvar/365835 ^@ NM_052813.4(CARD9):c.1330C>G (p.Leu444Val) http://identifiers.org/clinvar/366136 ^@ NM_144966.5(FREM1):c.3048G>A (p.Thr1016=) http://identifiers.org/clinvar/366186 ^@ NM_144966.5(FREM1):c.-204T>G http://identifiers.org/clinvar/311086 ^@ NM_001845.5(COL4A1):c.-71C>G http://identifiers.org/clinvar/367275 ^@ NM_017662.4(TRPM6):c.*1084C>T http://identifiers.org/clinvar/311536 ^@ NM_014363.5(SACS):c.6059G>A (p.Gly2020Glu) http://identifiers.org/clinvar/303727 ^@ NM_000525.3(KCNJ11):c.*215C>T http://identifiers.org/clinvar/303827 ^@ NM_001909.4(CTSD):c.*342C>T http://identifiers.org/clinvar/303977 ^@ NM_006757.3(TNNT3):c.690G>A (p.Thr230=) http://identifiers.org/clinvar/364196 ^@ NM_033087.3(ALG2):c.*1384T>C http://identifiers.org/clinvar/304027 ^@ NM_004211.4(SLC6A5):c.1548C>T (p.Ala516=) http://identifiers.org/clinvar/298499 ^@ NM_021830.4(TWNK):c.922T>C (p.Leu308=) http://identifiers.org/clinvar/304327 ^@ NM_000280.4(PAX6):c.*2416G>T http://identifiers.org/clinvar/312575 ^@ NM_005708.4(GPC6):c.*1261G>A http://identifiers.org/clinvar/304427 ^@ NM_024426.4(WT1):c.232G>T (p.Ala78Ser) http://identifiers.org/clinvar/312875 ^@ NM_002471.3(MYH6):c.1822G>A (p.Ala608Thr) http://identifiers.org/clinvar/313125 ^@ NM_001079668.2(NKX2-1):c.*544G>A http://identifiers.org/clinvar/299099 ^@ NM_001609.3(ACADSB):c.*262C>T http://identifiers.org/clinvar/299149 ^@ NM_001609.3(ACADSB):c.*3483T>G http://identifiers.org/clinvar/313225 ^@ NM_020937.3(FANCM):c.5108A>G (p.His1703Arg) http://identifiers.org/clinvar/313375 ^@ NM_000161.2(GCH1):c.*892_*894delCTT http://identifiers.org/clinvar/313475 ^@ NM_182914.2(SYNE2):c.-224C>T http://identifiers.org/clinvar/304877 ^@ NM_002334.3(LRP4):c.2639C>T (p.Ala880Val) http://identifiers.org/clinvar/299399 ^@ NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) http://identifiers.org/clinvar/298949 ^@ NM_004281.3(BAG3):c.-285C>A http://identifiers.org/clinvar/299449 ^@ NM_001081.3(CUBN):c.5926+5G>A http://identifiers.org/clinvar/299049 ^@ NM_002775.4(HTRA1):c.473-8G>T http://identifiers.org/clinvar/299499 ^@ NM_001081.3(CUBN):c.2791+6A>C http://identifiers.org/clinvar/313925 ^@ NM_015346.3(ZFYVE26):c.453C>T (p.Ser151=) http://identifiers.org/clinvar/313975 ^@ NM_000021.3(PSEN1):c.*1871_*1874delACAG http://identifiers.org/clinvar/314025 ^@ NM_031427.3(DNAL1):c.*205T>C http://identifiers.org/clinvar/299249 ^@ NM_006214.3(PHYH):c.643G>A (p.Gly215Ser) http://identifiers.org/clinvar/299299 ^@ NM_001033855.2(DCLRE1C):c.*529delC http://identifiers.org/clinvar/299949 ^@ NM_002900.2(RBP3):c.*65C>T http://identifiers.org/clinvar/300049 ^@ NM_000124.3(ERCC6):c.3456T>G (p.Gly1152=) http://identifiers.org/clinvar/300099 ^@ NM_000124.3(ERCC6):c.-78G>T http://identifiers.org/clinvar/305768 ^@ NM_002496.3(NDUFS8):c.459C>T (p.Cys153=) http://identifiers.org/clinvar/300199 ^@ NM_033056.3(PCDH15):c.851C>T (p.Ala284Val) http://identifiers.org/clinvar/299699 ^@ NM_014317.4(PDSS1):c.860T>C (p.Val287Ala) http://identifiers.org/clinvar/305818 ^@ NM_006019.3(TCIRG1):c.2193C>T (p.Thr731=) http://identifiers.org/clinvar/305868 ^@ NM_002180.2(IGHMBP2):c.*255T>C http://identifiers.org/clinvar/315114 ^@ NM_177438.2(DICER1):c.354T>C (p.Asp118=) http://identifiers.org/clinvar/315314 ^@ NM_139057.3(ADAMTS17):c.647C>T (p.Ser216Leu) http://identifiers.org/clinvar/315414 ^@ NM_144599.4(NIPA1):c.*548A>C http://identifiers.org/clinvar/299899 ^@ NM_020975.4(RET):c.2580G>A (p.Gln860=) http://identifiers.org/clinvar/299999 ^@ NM_002900.2(RBP3):c.-99_-97delAAG http://identifiers.org/clinvar/315664 ^@ NM_005159.4(ACTC1):c.*1115A>T http://identifiers.org/clinvar/329337 ^@ NM_030578.3(B9D2):c.*87C>T http://identifiers.org/clinvar/315264 ^@ NM_139057.3(ADAMTS17):c.2592-10C>T http://identifiers.org/clinvar/311186 ^@ NM_001846.3(COL4A2):c.4737C>T (p.Ala1579=) http://identifiers.org/clinvar/311236 ^@ NM_000131.4(F7):c.*410C>T http://identifiers.org/clinvar/311286 ^@ NM_021954.3(GJA3):c.*3182T>G http://identifiers.org/clinvar/311336 ^@ NM_021954.3(GJA3):c.1082C>T (p.Pro361Leu) http://identifiers.org/clinvar/311436 ^@ NM_002010.2(FGF9):c.*298_*305dupGTGTGTGT http://identifiers.org/clinvar/318206 ^@ NM_014714.3(IFT140):c.754C>T (p.Leu252Phe) http://identifiers.org/clinvar/318256 ^@ NM_004970.2(IGFALS):c.634G>A (p.Ala212Thr) http://identifiers.org/clinvar/318406 ^@ NM_001089.2(ABCA3):c.3796G>C (p.Glu1266Gln) http://identifiers.org/clinvar/318606 ^@ NM_001089.2(ABCA3):c.-711C>G http://identifiers.org/clinvar/310381 ^@ NM_173353.3(TPH2):c.413C>T (p.Pro138Leu) http://identifiers.org/clinvar/318756 ^@ NM_003321.4(TUFM):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/310736 ^@ NM_018979.3(WNK1):c.1434C>T (p.Phe478=) http://identifiers.org/clinvar/318806 ^@ NM_001770.5(CD19):c.836-13C>G http://identifiers.org/clinvar/337773 ^@ NM_000214.2(JAG1):c.-433G>A http://identifiers.org/clinvar/310686 ^@ NM_002108.3(HAL):c.*789G>A http://identifiers.org/clinvar/310886 ^@ NM_004115.3(FGF14):c.*554G>A http://identifiers.org/clinvar/310986 ^@ NM_002312.3(LIG4):c.1020A>G (p.Gln340=) http://identifiers.org/clinvar/312525 ^@ NM_052910.2(SLITRK1):c.-697C>T http://identifiers.org/clinvar/319946 ^@ NM_000339.2(SLC12A3):c.*1161A>G http://identifiers.org/clinvar/312925 ^@ NM_006177.3(NRL):c.*1043G>A http://identifiers.org/clinvar/313025 ^@ NM_025152.2(NUBPL):c.383G>A (p.Ser128Asn) http://identifiers.org/clinvar/320296 ^@ NM_004360.4(CDH1):c.*1662G>C http://identifiers.org/clinvar/320396 ^@ NM_000353.2(TAT):c.*395_*396dupCT http://identifiers.org/clinvar/313275 ^@ NM_018139.2(DNAAF2):c.2388C>T (p.His796=) http://identifiers.org/clinvar/320446 ^@ NM_001361.4(DHODH):c.*404G>A http://identifiers.org/clinvar/313325 ^@ NM_002863.4(PYGL):c.1519-15C>A http://identifiers.org/clinvar/339263 ^@ NM_001853.3(COL9A3):c.78+6C>T http://identifiers.org/clinvar/339513 ^@ NM_015192.3(PLCB1):c.2930+15T>C http://identifiers.org/clinvar/313625 ^@ NM_182914.2(SYNE2):c.16605+9A>G http://identifiers.org/clinvar/313675 ^@ NM_182914.2(SYNE2):c.*149G>C http://identifiers.org/clinvar/313725 ^@ NM_000347.5(SPTB):c.4651G>T (p.Asp1551Tyr) http://identifiers.org/clinvar/339863 ^@ NM_001754.4(RUNX1):c.*559T>C http://identifiers.org/clinvar/314075 ^@ NM_031427.3(DNAL1):c.*3527C>T http://identifiers.org/clinvar/312425 ^@ NM_001004127.2(ALG11):c.*953A>G http://identifiers.org/clinvar/340213 ^@ NM_130445.3(COL18A1):c.1221+14T>C http://identifiers.org/clinvar/328287 ^@ NM_006397.2(RNASEH2A):c.-25A>G http://identifiers.org/clinvar/342153 ^@ NM_001953.4(TYMP):c.344A>G (p.Lys115Arg) http://identifiers.org/clinvar/342203 ^@ NM_000487.5(ARSA):c.*1372G>A http://identifiers.org/clinvar/326798 ^@ NM_015559.2(SETBP1):c.*3179G>A http://identifiers.org/clinvar/328537 ^@ NM_000453.2(SLC5A5):c.663G>A (p.Thr221=) http://identifiers.org/clinvar/328637 ^@ NM_003721.3(RFXANK):c.-240A>T http://identifiers.org/clinvar/328837 ^@ NM_001863.4(COX6B1):c.-145G>A http://identifiers.org/clinvar/329137 ^@ NM_000540.2(RYR1):c.14602G>A (p.Glu4868Lys) http://identifiers.org/clinvar/329187 ^@ NM_033064.4(ATCAY):c.*1632T>C http://identifiers.org/clinvar/329237 ^@ NM_016941.3(DLL3):c.1143C>T (p.Ala381=) http://identifiers.org/clinvar/329287 ^@ NM_181882.2(PRX):c.493C>T (p.Arg165Cys) http://identifiers.org/clinvar/328487 ^@ NM_000215.3(JAK3):c.*501C>T http://identifiers.org/clinvar/328687 ^@ NM_001031726.3(C19orf12):c.*2222A>C http://identifiers.org/clinvar/328737 ^@ NM_001031726.3(C19orf12):c.-72G>T http://identifiers.org/clinvar/328887 ^@ NM_004646.3(NPHS1):c.-81C>G http://identifiers.org/clinvar/328987 ^@ NM_000540.2(RYR1):c.-74A>C http://identifiers.org/clinvar/338073 ^@ NM_015338.5(ASXL1):c.-88G>C http://identifiers.org/clinvar/330276 ^@ NM_000064.3(C3):c.4759C>T (p.Pro1587Ser) http://identifiers.org/clinvar/339613 ^@ NM_000933.3(PLCB4):c.*1461A>G http://identifiers.org/clinvar/339663 ^@ NM_000454.4(SOD1):c.-56T>A http://identifiers.org/clinvar/339713 ^@ NM_172201.1(KCNE2):c.-121C>T http://identifiers.org/clinvar/339763 ^@ NM_000219.5(KCNE1):c.*457G>A http://identifiers.org/clinvar/339963 ^@ NM_000411.6(HLCS):c.1254C>T (p.Leu418=) http://identifiers.org/clinvar/337923 ^@ NM_198994.2(TGM6):c.1171G>A (p.Val391Met) http://identifiers.org/clinvar/340313 ^@ NM_001848.2(COL6A1):c.1179C>T (p.Asp393=) http://identifiers.org/clinvar/340363 ^@ NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr) http://identifiers.org/clinvar/338273 ^@ NM_000687.3(AHCY):c.744C>T (p.Asn248=) http://identifiers.org/clinvar/338323 ^@ NM_000557.4(GDF5):c.168C>A (p.Asn56Lys) http://identifiers.org/clinvar/340764 ^@ NM_017929.5(PEX26):c.*464A>G http://identifiers.org/clinvar/339113 ^@ NM_207034.2(EDN3):c.-359T>A http://identifiers.org/clinvar/339163 ^@ NM_017671.4(FERMT1):c.*2294T>G http://identifiers.org/clinvar/339363 ^@ NM_025219.2(DNAJC5):c.*243G>A http://identifiers.org/clinvar/339413 ^@ NM_025219.2(DNAJC5):c.*2790C>T http://identifiers.org/clinvar/339463 ^@ NM_012469.3(PRPF6):c.71+6G>A http://identifiers.org/clinvar/339563 ^@ NM_000933.3(PLCB4):c.1462T>G (p.Ser488Ala) http://identifiers.org/clinvar/339813 ^@ NM_001754.4(RUNX1):c.*3229C>T http://identifiers.org/clinvar/341803 ^@ NM_001429.3(EP300):c.3624C>A (p.Ile1208=) http://identifiers.org/clinvar/341853 ^@ NM_001429.3(EP300):c.*922_*930delACTCACACAinsCCC http://identifiers.org/clinvar/339913 ^@ NM_000411.6(HLCS):c.*3159_*3162delAAGT http://identifiers.org/clinvar/341953 ^@ NM_025225.2(PNPLA3):c.*626A>G http://identifiers.org/clinvar/389904 ^@ NM_017617.4(NOTCH1):c.4560C>T (p.Asp1520=) http://identifiers.org/clinvar/389004 ^@ NM_015631.5(TCTN3):c.159G>A (p.Ala53=) http://identifiers.org/clinvar/391943 ^@ NM_007327.3(GRIN1):c.-24G>A http://identifiers.org/clinvar/377918 ^@ NM_000162.3(GCK):c.1019+18G>A http://identifiers.org/clinvar/388804 ^@ NM_006393.2(NEBL):c.1311A>G (p.Ala437=) http://identifiers.org/clinvar/377968 ^@ NM_005343.3(HRAS):c.*5+20C>T http://identifiers.org/clinvar/379517 ^@ NM_001134363.2(RBM20):c.2069C>T (p.Pro690Leu) http://identifiers.org/clinvar/392343 ^@ NM_016938.4(EFEMP2):c.368-18G>A http://identifiers.org/clinvar/379918 ^@ NM_018082.5(POLR3B):c.2818-1G>T http://identifiers.org/clinvar/379767 ^@ NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) http://identifiers.org/clinvar/377518 ^@ NM_000051.3(ATM):c.5496+11T>G http://identifiers.org/clinvar/378018 ^@ NM_000218.2(KCNQ1):c.1332G>A (p.Thr444=) http://identifiers.org/clinvar/380419 ^@ NM_016725.2(FOLR1):c.117C>T (p.Asn39=) http://identifiers.org/clinvar/380519 ^@ NM_030813.5(CLPB):c.1950C>T (p.Arg650=) http://identifiers.org/clinvar/387065 ^@ NM_000289.5(PFKM):c.1401T>C (p.Leu467=) http://identifiers.org/clinvar/380770 ^@ NM_001478.4(B4GALNT1):c.666G>T (p.Leu222=) http://identifiers.org/clinvar/386915 ^@ NM_002225.3(IVD):c.243+16C>T http://identifiers.org/clinvar/380118 ^@ NM_000138.4(FBN1):c.5466C>T (p.Ala1822=) http://identifiers.org/clinvar/389254 ^@ NM_013227.3(ACAN):c.2572G>A (p.Gly858Arg) http://identifiers.org/clinvar/387815 ^@ NM_015915.4(ATL1):c.1651G>T (p.Glu551Ter) http://identifiers.org/clinvar/391493 ^@ NM_016146.5(TRAPPC4):c.454+3A>G http://identifiers.org/clinvar/380719 ^@ NM_000548.4(TSC2):c.3420C>T (p.Gly1140=) http://identifiers.org/clinvar/391443 ^@ NM_020778.4(ALPK3):c.3116A>T (p.Gln1039Leu) http://identifiers.org/clinvar/392693 ^@ NM_012463.3(ATP6V0A2):c.2308C>T (p.Leu770=) http://identifiers.org/clinvar/380218 ^@ NM_006231.3(POLE):c.6330+15G>A http://identifiers.org/clinvar/392093 ^@ NM_006231.3(POLE):c.4752C>T (p.Leu1584=) http://identifiers.org/clinvar/380368 ^@ NM_013275.5(ANKRD11):c.6067G>C (p.Ala2023Pro) http://identifiers.org/clinvar/48232 ^@ NM_194248.2(OTOF):c.42G>A (p.Arg14=) http://identifiers.org/clinvar/48282 ^@ NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) http://identifiers.org/clinvar/48333 ^@ NM_201555.1(FHL2):c.85G>A (p.Val29Met) http://identifiers.org/clinvar/48383 ^@ NM_007123.5(USH2A):c.1179A>G (p.Gln393=) http://identifiers.org/clinvar/48433 ^@ NM_206933.2(USH2A):c.14287G>A (p.Gly4763Arg) http://identifiers.org/clinvar/48483 ^@ NM_206933.2(USH2A):c.2109T>C (p.Asp703=) http://identifiers.org/clinvar/2 ^@ NM_014855.2(AP5Z1):c.80_83delGGATinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ala362delinsLeuLeuTer) http://identifiers.org/clinvar/304 ^@ NM_000552.4(VWF):c.4541T>G (p.Phe1514Cys) http://identifiers.org/clinvar/365 ^@ NM_000267.3(NF1):c.4095_4096insTG (p.His1366Cysfs) http://identifiers.org/clinvar/379 ^@ NM_000308.3(CTSA):c.323C>T (p.Ser108Leu) http://identifiers.org/clinvar/552 ^@ NM_000140.3(FECH):c.1077+1G>A http://identifiers.org/clinvar/697 ^@ NM_001145320.1(ADAMTSL2):c.2586G>A (p.Trp862Ter) http://identifiers.org/clinvar/738 ^@ NM_203395.2(IYD):c.315_317delCAT (p.Phe105_Ile106delinsLeu) http://identifiers.org/clinvar/747 ^@ NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) http://identifiers.org/clinvar/756 ^@ NM_015575.3(GIGYF2):c.832A>G (p.Ile278Val) http://identifiers.org/clinvar/765 ^@ NM_015702.2(MMADHC):c.160C>T (p.Arg54Ter) http://identifiers.org/clinvar/774 ^@ NM_198488.3(FAM83H):c.1380G>A (p.Trp460Ter) http://identifiers.org/clinvar/797 ^@ NM_000038.5(APC):c.1240C>T (p.Arg414Cys) http://identifiers.org/clinvar/815 ^@ NC_000005.10:g.112836913_112908314del71402 http://identifiers.org/clinvar/866 ^@ NR_029512.1(MIR96):n.14C>A http://identifiers.org/clinvar/1774 ^@ MSH2, 32-KB DEL, EX1-6 http://identifiers.org/clinvar/1819 ^@ NM_018451.4(CENPJ):c.3243_3246delTCAG (p.Ser1081Argfs) http://identifiers.org/clinvar/1864 ^@ PDCD10, 586C-T http://identifiers.org/clinvar/1909 ^@ NM_000411.6(HLCS):c.1522C>T (p.Arg508Trp) http://identifiers.org/clinvar/1954 ^@ NM_000022.3(ADA):c.239A>G (p.Lys80Arg) http://identifiers.org/clinvar/2043 ^@ NM_032146.5(ARL6):c.509T>G (p.Leu170Trp) http://identifiers.org/clinvar/2535 ^@ NM_018062.3(FANCL):c.822-15_822-9delins177 http://identifiers.org/clinvar/2582 ^@ NM_000483.4(APOC2):c.178G>A (p.Glu60Lys) http://identifiers.org/clinvar/2628 ^@ NM_001037633.1(SIL1):c.1370T>C (p.Leu457Pro) http://identifiers.org/clinvar/2674 ^@ SUMF1, 1-BP DEL, 276C http://identifiers.org/clinvar/2720 ^@ DSG4, 1-BP DEL, 87G http://identifiers.org/clinvar/2766 ^@ NM_024312.4(GNPTAB):c.3474_3475delTA (p.His1158Glnfs) http://identifiers.org/clinvar/2810 ^@ NM_025074.6(FRAS1):c.9013C>T (p.Gln3005Ter) http://identifiers.org/clinvar/2856 ^@ NM_173076.2(ABCA12):c.4951G>A (p.Gly1651Ser) http://identifiers.org/clinvar/2901 ^@ NM_000419.4(ITGA2B):c.641T>C (p.Leu214Pro) http://identifiers.org/clinvar/2947 ^@ RAI1, 1-BP DEL, 1308C http://identifiers.org/clinvar/2993 ^@ NM_000543.4(SMPD1):c.1327C>T (p.Arg443Ter) http://identifiers.org/clinvar/3087 ^@ NM_000487.5(ARSA):c.1232C>T (p.Thr411Ile) http://identifiers.org/clinvar/3139 ^@ KCNQ1, IVS1 http://identifiers.org/clinvar/3187 ^@ NM_017653.3(DYM):c.1405A>T (p.Asn469Tyr) http://identifiers.org/clinvar/3231 ^@ NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) http://identifiers.org/clinvar/3280 ^@ NM_024529.4(CDC73):c.85delG (p.Glu29Serfs) http://identifiers.org/clinvar/3325 ^@ NM_020436.4(SALL4):c.523A>T (p.Lys175Ter) http://identifiers.org/clinvar/12669 ^@ NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/12720 ^@ NM_000361.2(THBD):c.1483C>T (p.Pro495Ser) http://identifiers.org/clinvar/12771 ^@ NM_002354.2(EPCAM):c.491+1G>A http://identifiers.org/clinvar/12821 ^@ NM_003106.3(SOX2):c.221G>C (p.Arg74Pro) http://identifiers.org/clinvar/12872 ^@ NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) http://identifiers.org/clinvar/12922 ^@ NM_000702.3(ATP1A2):c.901G>A (p.Gly301Arg) http://identifiers.org/clinvar/12972 ^@ NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) http://identifiers.org/clinvar/13023 ^@ NM_000539.3(RHO):c.568G>A (p.Asp190Asn) http://identifiers.org/clinvar/13329 ^@ NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) http://identifiers.org/clinvar/13379 ^@ NM_000207.2(INS):c.100C>G (p.His34Asp) http://identifiers.org/clinvar/13434 ^@ NM_000371.3(TTR):c.416C>T (p.Thr139Met) http://identifiers.org/clinvar/13485 ^@ NM_000217.2(KCNA1):c.975G>C (p.Glu325Asp) http://identifiers.org/clinvar/50896 ^@ NM_024312.4(GNPTAB):c.545T>A (p.Val182Asp) http://identifiers.org/clinvar/40069 ^@ NM_001080463.1(DYNC2H1):c.7486C>T (p.Pro2496Ser) http://identifiers.org/clinvar/40218 ^@ LGI1, 81-KB DEL http://identifiers.org/clinvar/40360 ^@ NM_004333.4(BRAF):c.1227A>G (p.Ser409=) http://identifiers.org/clinvar/40426 ^@ NM_005188.3(CBL):c.2584G>A (p.Glu862Lys) http://identifiers.org/clinvar/40495 ^@ NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn) http://identifiers.org/clinvar/40553 ^@ NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) http://identifiers.org/clinvar/40613 ^@ NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) http://identifiers.org/clinvar/51161 ^@ NM_000059.3(BRCA2):c.1631_1632delCT (p.Thr544Serfs) http://identifiers.org/clinvar/51212 ^@ NM_000059.3(BRCA2):c.1842dupT (p.Asn615Terfs) http://identifiers.org/clinvar/51264 ^@ NM_000059.3(BRCA2):c.2275C>T (p.Leu759Phe) http://identifiers.org/clinvar/51315 ^@ NM_000059.3(BRCA2):c.2612C>A (p.Ser871Ter) http://identifiers.org/clinvar/51365 ^@ NM_000059.3(BRCA2):c.2881C>T (p.Gln961Ter) http://identifiers.org/clinvar/52331 ^@ NM_000059.3(BRCA2):c.7438T>G (p.Leu2480Val) http://identifiers.org/clinvar/52787 ^@ NM_000059.3(BRCA2):c.9256+1G>A http://identifiers.org/clinvar/52838 ^@ NM_000059.3(BRCA2):c.9454G>A (p.Glu3152Lys) http://identifiers.org/clinvar/52888 ^@ NM_000059.3(BRCA2):c.9666delT (p.Cys3222Trpfs) http://identifiers.org/clinvar/52938 ^@ NM_000218.2(KCNQ1):c.1032+5G>A http://identifiers.org/clinvar/52988 ^@ NM_000218.2(KCNQ1):c.1539delC (p.Ile514Leufs) http://identifiers.org/clinvar/53038 ^@ NM_000218.2(KCNQ1):c.363dupA (p.Cys122Metfs) http://identifiers.org/clinvar/53088 ^@ NM_000218.2(KCNQ1):c.704T>A (p.Ile235Asn) http://identifiers.org/clinvar/53139 ^@ NM_000218.2(KCNQ1):c.944A>C (p.Tyr315Ser) http://identifiers.org/clinvar/53191 ^@ NM_000492.3(CFTR):c.1116+1G>C http://identifiers.org/clinvar/53244 ^@ NM_000492.3(CFTR):c.1397C>A (p.Ser466Ter) http://identifiers.org/clinvar/53294 ^@ NM_000492.3(CFTR):c.1588A>C (p.Ile530Leu) http://identifiers.org/clinvar/53345 ^@ NM_000492.3(CFTR):c.1696G>A (p.Ala566Thr) http://identifiers.org/clinvar/53395 ^@ NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) http://identifiers.org/clinvar/53447 ^@ NM_000492.3(CFTR):c.2168G>T (p.Gly723Val) http://identifiers.org/clinvar/53500 ^@ NM_000492.3(CFTR):c.2491-2A>G http://identifiers.org/clinvar/53550 ^@ NM_000492.3(CFTR):c.2735C>A (p.Ser912Ter) http://identifiers.org/clinvar/53600 ^@ NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) http://identifiers.org/clinvar/53652 ^@ NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) http://identifiers.org/clinvar/53703 ^@ NM_000492.3(CFTR):c.3281_3367+268del355insTGTTAA http://identifiers.org/clinvar/53753 ^@ NM_000492.3(CFTR):c.3469_3717del249 (p.Met1157_Arg1239del) http://identifiers.org/clinvar/53804 ^@ NM_000492.3(CFTR):c.3759G>C (p.Leu1253Phe) http://identifiers.org/clinvar/53858 ^@ NM_000492.3(CFTR):c.3937C>A (p.Gln1313Lys) http://identifiers.org/clinvar/53909 ^@ NM_000492.3(CFTR):c.416A>G (p.His139Arg) http://identifiers.org/clinvar/53959 ^@ NM_000492.3(CFTR):c.473G>C (p.Ser158Thr) http://identifiers.org/clinvar/54009 ^@ NM_000492.3(CFTR):c.579+3A>C http://identifiers.org/clinvar/54059 ^@ NM_000492.3(CFTR):c.79G>A (p.Gly27Arg) http://identifiers.org/clinvar/54111 ^@ NM_007294.3(BRCA1):c.1063A>T (p.Lys355Ter) http://identifiers.org/clinvar/54161 ^@ NM_007294.3(BRCA1):c.1204G>T (p.Glu402Ter) http://identifiers.org/clinvar/54211 ^@ NM_007294.3(BRCA1):c.134+2delT http://identifiers.org/clinvar/54802 ^@ NM_007294.3(BRCA1):c.3227G>C (p.Arg1076Thr) http://identifiers.org/clinvar/54852 ^@ NM_007294.3(BRCA1):c.3344_3346delAAG (p.Glu1115del) http://identifiers.org/clinvar/54902 ^@ NM_007294.3(BRCA1):c.34C>T (p.Gln12Ter) http://identifiers.org/clinvar/54954 ^@ NM_007294.3(BRCA1):c.3649dupT (p.Ser1217Phefs) http://identifiers.org/clinvar/55005 ^@ NM_007294.3(BRCA1):c.3783A>G (p.Leu1261=) http://identifiers.org/clinvar/55055 ^@ NM_007294.3(BRCA1):c.3932delA (p.Asn1311Thrfs) http://identifiers.org/clinvar/55106 ^@ NM_007294.3(BRCA1):c.4116T>A (p.Cys1372Ter) http://identifiers.org/clinvar/55157 ^@ NM_007294.3(BRCA1):c.4262A>G (p.His1421Arg) http://identifiers.org/clinvar/55208 ^@ NM_007294.3(BRCA1):c.4480G>A (p.Glu1494Lys) http://identifiers.org/clinvar/55258 ^@ NM_007294.3(BRCA1):c.4681delA (p.Thr1561Profs) http://identifiers.org/clinvar/55309 ^@ NM_007294.3(BRCA1):c.4892G>A (p.Ser1631Asn) http://identifiers.org/clinvar/55359 ^@ NM_007294.3(BRCA1):c.503A>C (p.Lys168Thr) http://identifiers.org/clinvar/55409 ^@ NM_007294.3(BRCA1):c.5128G>T (p.Gly1710Ter) http://identifiers.org/clinvar/55459 ^@ NM_007294.3(BRCA1):c.5209_5248del40insTC (p.Arg1737Serfs) http://identifiers.org/clinvar/55512 ^@ NM_007294.3(BRCA1):c.529delT (p.Ser177Leufs) http://identifiers.org/clinvar/55562 ^@ NM_007294.3(BRCA1):c.5406+3A>T http://identifiers.org/clinvar/55612 ^@ NM_007294.3(BRCA1):c.5521delA (p.Ser1841Valfs) http://identifiers.org/clinvar/55664 ^@ NM_007294.3(BRCA1):c.677_678insC (p.Glu227Terfs) http://identifiers.org/clinvar/55715 ^@ NM_007294.3(BRCA1):c.81-1G>C http://identifiers.org/clinvar/55766 ^@ NM_007294.3(BRCA1):c.964G>A (p.Ala322Thr) http://identifiers.org/clinvar/55838 ^@ NM_001290343.1(CERS3):c.609+1G>T http://identifiers.org/clinvar/55916 ^@ NM_207037.1(TCF12):c.1035+3G>C http://identifiers.org/clinvar/55974 ^@ NM_000111.2(SLC26A3):c.145_157delAAGGCCAAGAGAA (p.Lys49Leufs) http://identifiers.org/clinvar/56027 ^@ NM_000112.3(SLC26A2):c.700-1G>C http://identifiers.org/clinvar/56078 ^@ NM_000170.2(GLDC):c.245T>G (p.Leu82Trp) http://identifiers.org/clinvar/56132 ^@ NM_000274.3(OAT):c.583G>T (p.Asp195Tyr) http://identifiers.org/clinvar/56183 ^@ NM_000310.3(PPT1):c.175delG (p.Glu59Argfs) http://identifiers.org/clinvar/56233 ^@ NM_000481.3(AMT):c.471+2T>C http://identifiers.org/clinvar/56284 ^@ NM_001042432.1(CLN3):c.575G>A (p.Gly192Glu) http://identifiers.org/clinvar/56747 ^@ NM_030943.3(AMN):c.1257+10C>T http://identifiers.org/clinvar/56823 ^@ NM_001927.3(DES):c.1289-2A>G http://identifiers.org/clinvar/102606 ^@ NM_000277.1(PAH):c.168+5G>C http://identifiers.org/clinvar/102661 ^@ NM_000277.1(PAH):c.386A>G (p.Asp129Gly) http://identifiers.org/clinvar/102712 ^@ NM_000277.1(PAH):c.510-54G>A http://identifiers.org/clinvar/102762 ^@ NM_000277.1(PAH):c.617A>G (p.Tyr206Cys) http://identifiers.org/clinvar/102813 ^@ NM_000277.1(PAH):c.737C>T (p.Ala246Val) http://identifiers.org/clinvar/102863 ^@ NM_000277.1(PAH):c.833C>T (p.Thr278Ile) http://identifiers.org/clinvar/102915 ^@ NM_000277.1(PAH):c.969+5G>A http://identifiers.org/clinvar/102973 ^@ NM_001330552.1(NLRC5):c.-1074G>A http://identifiers.org/clinvar/103023 ^@ NM_001033053.2(NLRP1):c.3533-107G>A http://identifiers.org/clinvar/103073 ^@ NM_001199138.1(NLRC4):c.1530A>G (p.Ala510=) http://identifiers.org/clinvar/103123 ^@ NM_022162.2(NOD2):c.2546+28G>A http://identifiers.org/clinvar/103173 ^@ NM_032206.4(NLRC5):c.3203+100G>C http://identifiers.org/clinvar/103223 ^@ NM_134444.4(NLRP4):c.2187-56G>C http://identifiers.org/clinvar/103273 ^@ NM_145007.3(NLRP11):c.1842-6A>G http://identifiers.org/clinvar/103323 ^@ NM_176811.2(NLRP8):c.2154dupT (p.Leu720Phefs) http://identifiers.org/clinvar/103373 ^@ NM_178844.3(NLRC3):c.2787C>T (p.Ala929=) http://identifiers.org/clinvar/111247 ^@ NM_005534.3(IFNGR2):c.510G>A (p.Thr170=) http://identifiers.org/clinvar/160791 ^@ GRCh38/hg38 12q14.1(chr12:60698177-61527666)x1 http://identifiers.org/clinvar/160842 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 http://identifiers.org/clinvar/160894 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3 http://identifiers.org/clinvar/160946 ^@ GRCh38/hg38 15q13.3(chr15:31738809-32217725)x1 http://identifiers.org/clinvar/160996 ^@ GRCh38/hg38 10q25.1(chr10:108680957-109329708)x1 http://identifiers.org/clinvar/161047 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:141160282-141469623)x0 http://identifiers.org/clinvar/161097 ^@ NM_030777.3(SLC2A10):c.692G>A (p.Arg231Gln) http://identifiers.org/clinvar/161147 ^@ NM_152296.4(ATP1A3):c.2755_2757delGTC (p.Val919del) http://identifiers.org/clinvar/161329 ^@ NM_000258.2(MYL3):c.235G>A (p.Val79Ile) http://identifiers.org/clinvar/161229 ^@ NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) http://identifiers.org/clinvar/161279 ^@ NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) http://identifiers.org/clinvar/161379 ^@ NM_000540.2(RYR1):c.7210G>A (p.Glu2404Lys) http://identifiers.org/clinvar/161445 ^@ NM_001999.3(FBN2):c.3430G>A (p.Glu1144Lys) http://identifiers.org/clinvar/177998 ^@ NM_005572.3(LMNA):c.*4C>T http://identifiers.org/clinvar/177644 ^@ NM_001001430.2(TNNT2):c.244G>A (p.Gly82Arg) http://identifiers.org/clinvar/179856 ^@ NM_001103.3(ACTN2):c.2302-3C>A http://identifiers.org/clinvar/179956 ^@ NM_001035.2(RYR2):c.4950G>A (p.Leu1650=) http://identifiers.org/clinvar/165557 ^@ NM_000364.3(TNNT2):c.39G>A (p.Glu13=) http://identifiers.org/clinvar/180006 ^@ NM_133378.4(TTN):c.84962G>A (p.Gly28321Asp) http://identifiers.org/clinvar/166004 ^@ NM_001256850.1(TTN):c.45889G>C (p.Glu15297Gln) http://identifiers.org/clinvar/177745 ^@ NM_206933.2(USH2A):c.10826G>T (p.Ser3609Ile) http://identifiers.org/clinvar/166510 ^@ NM_206933.2(USH2A):c.3493G>C (p.Val1165Leu) http://identifiers.org/clinvar/180106 ^@ NM_170707.3(LMNA):c.(?_1)_(356_?)del (p.(?)) http://identifiers.org/clinvar/165857 ^@ NM_133378.4(TTN):c.62826G>A (p.Met20942Ile) http://identifiers.org/clinvar/178198 ^@ NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) http://identifiers.org/clinvar/165954 ^@ NM_133378.4(TTN):c.49559-4C>T http://identifiers.org/clinvar/165690 ^@ NM_133378.4(TTN):c.89776C>T (p.Arg29926Cys) http://identifiers.org/clinvar/179356 ^@ NM_133378.4(TTN):c.28579G>A (p.Val9527Met) http://identifiers.org/clinvar/178248 ^@ NM_001256850.1(TTN):c.18065A>G (p.Tyr6022Cys) http://identifiers.org/clinvar/166148 ^@ NM_133378.4(TTN):c.22468+5G>A http://identifiers.org/clinvar/166260 ^@ NM_133378.4(TTN):c.10360+5019T>G http://identifiers.org/clinvar/166310 ^@ NM_001256850.1(TTN):c.7060C>T (p.Arg2354Cys) http://identifiers.org/clinvar/179806 ^@ NM_194248.2(OTOF):c.3316C>A (p.Pro1106Thr) http://identifiers.org/clinvar/179506 ^@ NM_194248.2(OTOF):c.235G>A (p.Gly79Arg) http://identifiers.org/clinvar/165287 ^@ NM_005633.3(SOS1):c.552T>C (p.Asn184=) http://identifiers.org/clinvar/165204 ^@ NM_198843.2(SFTPB):c.428C>T (p.Thr143Ile) http://identifiers.org/clinvar/165142 ^@ NM_198056.2(SCN5A):c.3411C>T (p.Ser1137=) http://identifiers.org/clinvar/163656 ^@ NM_001080476.2(GRXCR1):c.813C>A (p.Ala271=) http://identifiers.org/clinvar/164805 ^@ NM_016616.4(NME8):c.1479A>T (p.Ile493=) http://identifiers.org/clinvar/198928 ^@ NM_198859.3(PRICKLE2):c.1707A>G (p.Arg569=) http://identifiers.org/clinvar/198979 ^@ NM_000016.5(ACADM):c.709-13A>G http://identifiers.org/clinvar/199030 ^@ NM_000489.4(ATRX):c.3065G>A (p.Arg1022Gln) http://identifiers.org/clinvar/199081 ^@ NM_002693.2(POLG):c.1586-5delC http://identifiers.org/clinvar/199135 ^@ NM_015102.4(NPHP4):c.1089G>T (p.Val363=) http://identifiers.org/clinvar/199185 ^@ NM_138694.3(PKHD1):c.652G>A (p.Glu218Lys) http://identifiers.org/clinvar/199241 ^@ NM_001256850.1(TTN):c.27596G>A (p.Arg9199His) http://identifiers.org/clinvar/200933 ^@ NM_170707.3(LMNA):c.356+1G>A http://identifiers.org/clinvar/201239 ^@ NM_001035.2(RYR2):c.3565G>A (p.Glu1189Lys) http://identifiers.org/clinvar/201292 ^@ NM_001035.2(RYR2):c.9131C>T (p.Thr3044Ile) http://identifiers.org/clinvar/201183 ^@ NM_001035.2(RYR2):c.12492G>A (p.Gln4164=) http://identifiers.org/clinvar/201350 ^@ NM_001035.2(RYR2):c.13528G>T (p.Ala4510Ser) http://identifiers.org/clinvar/199690 ^@ NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) http://identifiers.org/clinvar/199744 ^@ NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) http://identifiers.org/clinvar/199851 ^@ NM_004415.3(DSP):c.521G>T (p.Cys174Phe) http://identifiers.org/clinvar/199910 ^@ NM_004415.3(DSP):c.8357A>T (p.Lys2786Met) http://identifiers.org/clinvar/200711 ^@ NM_000238.3(KCNH2):c.3251dupC (p.Pro1086Alafs) http://identifiers.org/clinvar/200460 ^@ NM_000238.3(KCNH2):c.2494A>T (p.Lys832Ter) http://identifiers.org/clinvar/200606 ^@ NM_000238.3(KCNH2):c.826delT (p.Cys276Alafs) http://identifiers.org/clinvar/200295 ^@ NM_000238.3(KCNH2):c.602C>T (p.Thr201Met) http://identifiers.org/clinvar/200873 ^@ NM_000218.2(KCNQ1):c.392T>C (p.Leu131Pro) http://identifiers.org/clinvar/200820 ^@ NM_000218.2(KCNQ1):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/201002 ^@ NM_130799.2(MEN1):c.1548dupG (p.Lys517Glufs) http://identifiers.org/clinvar/200137 ^@ NM_000138.4(FBN1):c.8579A>G (p.Asp2860Gly) http://identifiers.org/clinvar/200191 ^@ NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) http://identifiers.org/clinvar/200078 ^@ NM_000138.4(FBN1):c.6251G>T (p.Cys2084Phe) http://identifiers.org/clinvar/200023 ^@ NM_000138.4(FBN1):c.3712+1G>A http://identifiers.org/clinvar/199968 ^@ NM_000138.4(FBN1):c.1454G>T (p.Arg485Leu) http://identifiers.org/clinvar/201116 ^@ NM_002474.2(MYH11):c.5393G>A (p.Arg1798Gln) http://identifiers.org/clinvar/201063 ^@ NM_002474.2(MYH11):c.3530C>T (p.Thr1177Met) http://identifiers.org/clinvar/199798 ^@ NM_001943.4(DSG2):c.220C>A (p.His74Asn) http://identifiers.org/clinvar/201853 ^@ NM_007078.2(LDB3):c.1639C>T (p.Arg547Trp) http://identifiers.org/clinvar/201689 ^@ NM_003476.4(CSRP3):c.465G>T (p.Glu155Asp) http://identifiers.org/clinvar/201743 ^@ NM_004006.2(DMD):c.932A>G (p.Asp311Gly) http://identifiers.org/clinvar/203074 ^@ NM_001256850.1(TTN):c.98986C>T (p.Arg32996Trp) http://identifiers.org/clinvar/203024 ^@ NM_001256850.1(TTN):c.91714G>A (p.Asp30572Asn) http://identifiers.org/clinvar/202924 ^@ NM_001256850.1(TTN):c.79949G>A (p.Arg26650His) http://identifiers.org/clinvar/202874 ^@ NM_001256850.1(TTN):c.71999G>A (p.Arg24000His) http://identifiers.org/clinvar/202824 ^@ NM_001256850.1(TTN):c.65365G>A (p.Val21789Ile) http://identifiers.org/clinvar/233845 ^@ NM_000038.5(APC):c.4891A>T (p.Ser1631Cys) http://identifiers.org/clinvar/232302 ^@ NM_000038.5(APC):c.6614C>T (p.Ser2205Phe) http://identifiers.org/clinvar/233392 ^@ NM_000038.5(APC):c.8514C>G (p.Tyr2838Ter) http://identifiers.org/clinvar/234045 ^@ NM_005732.3(RAD50):c.2335A>G (p.Met779Val) http://identifiers.org/clinvar/233592 ^@ NM_000535.6(PMS2):c.1012C>G (p.Pro338Ala) http://identifiers.org/clinvar/232052 ^@ NM_002485.4(NBN):c.993A>G (p.Thr331=) http://identifiers.org/clinvar/231802 ^@ NM_000368.4(TSC1):c.287T>C (p.Val96Ala) http://identifiers.org/clinvar/232202 ^@ NM_004329.2(BMPR1A):c.431-3C>G http://identifiers.org/clinvar/233492 ^@ NM_000314.6(PTEN):c.858C>G (p.Thr286=) http://identifiers.org/clinvar/232402 ^@ NM_000051.3(ATM):c.4281T>C (p.Ala1427=) http://identifiers.org/clinvar/233945 ^@ NM_000051.3(ATM):c.4885G>C (p.Val1629Leu) http://identifiers.org/clinvar/231452 ^@ NM_000051.3(ATM):c.6412A>G (p.Arg2138Gly) http://identifiers.org/clinvar/232102 ^@ NM_000051.3(ATM):c.7321G>T (p.Val2441Phe) http://identifiers.org/clinvar/234245 ^@ NM_005591.3(MRE11):c.1289A>T (p.Glu430Val) http://identifiers.org/clinvar/233642 ^@ NM_005591.3(MRE11):c.1201C>G (p.His401Asp) http://identifiers.org/clinvar/233895 ^@ NM_000059.3(BRCA2):c.1409A>C (p.Glu470Ala) http://identifiers.org/clinvar/231602 ^@ NM_000059.3(BRCA2):c.5605A>G (p.Ser1869Gly) http://identifiers.org/clinvar/231552 ^@ NM_000059.3(BRCA2):c.7795G>A (p.Glu2599Lys) http://identifiers.org/clinvar/233542 ^@ NM_000059.3(BRCA2):c.8996T>C (p.Leu2999Pro) http://identifiers.org/clinvar/231902 ^@ NM_000548.4(TSC2):c.2490C>T (p.Leu830=) http://identifiers.org/clinvar/233995 ^@ NM_000548.4(TSC2):c.3281C>G (p.Ser1094Trp) http://identifiers.org/clinvar/232502 ^@ NM_000548.4(TSC2):c.4691A>G (p.Asn1564Ser) http://identifiers.org/clinvar/231652 ^@ NM_024675.3(PALB2):c.583A>G (p.Ile195Val) http://identifiers.org/clinvar/232002 ^@ NM_004360.4(CDH1):c.1526C>G (p.Thr509Ser) http://identifiers.org/clinvar/233744 ^@ NM_144997.5(FLCN):c.189delC (p.Ala64Glnfs) http://identifiers.org/clinvar/233342 ^@ NM_001042492.2(NF1):c.1223A>G (p.Tyr408Cys) http://identifiers.org/clinvar/234095 ^@ NM_001042492.2(NF1):c.7027C>T (p.His2343Tyr) http://identifiers.org/clinvar/231702 ^@ NM_001042492.2(NF1):c.7847A>G (p.Gln2616Arg) http://identifiers.org/clinvar/231752 ^@ NM_002878.3(RAD51D):c.481-4T>G http://identifiers.org/clinvar/234195 ^@ NM_002878.3(RAD51D):c.356G>A (p.Cys119Tyr) http://identifiers.org/clinvar/230363 ^@ NM_007294.3(BRCA1):c.5439T>C (p.Asp1813=) http://identifiers.org/clinvar/233442 ^@ NM_007294.3(BRCA1):c.3969A>T (p.Gln1323His) http://identifiers.org/clinvar/231402 ^@ NM_007294.3(BRCA1):c.2362delG (p.Val788Leufs) http://identifiers.org/clinvar/231352 ^@ NM_007294.3(BRCA1):c.1707C>T (p.Asn569=) http://identifiers.org/clinvar/231852 ^@ NM_007294.3(BRCA1):c.1159T>A (p.Ser387Thr) http://identifiers.org/clinvar/232552 ^@ NM_032043.2(BRIP1):c.1220G>A (p.Ser407Asn) http://identifiers.org/clinvar/232152 ^@ NM_032043.2(BRIP1):c.1074A>C (p.Leu358=) http://identifiers.org/clinvar/234145 ^@ NM_032043.2(BRIP1):c.56A>G (p.Tyr19Cys) http://identifiers.org/clinvar/231952 ^@ NM_007194.3(CHEK2):c.963A>C (p.Glu321Asp) http://identifiers.org/clinvar/235070 ^@ NM_133378.4(TTN):c.51930delT (p.Pro17312Hisfs) http://identifiers.org/clinvar/235020 ^@ NM_000256.3(MYBPC3):c.2869dupA (p.Thr957Asnfs) http://identifiers.org/clinvar/235205 ^@ NM_004667.5(HERC2):c.7729G>A (p.Val2577Ile) http://identifiers.org/clinvar/235259 ^@ NM_001172567.1(MYD88):c.192_194delGGA (p.Glu66del) http://identifiers.org/clinvar/235313 ^@ NM_001031847.2(CPT1A):c.598A>G (p.Lys200Glu) http://identifiers.org/clinvar/235363 ^@ NM_181457.3(PAX3):c.505G>A (p.Glu169Lys) http://identifiers.org/clinvar/236380 ^@ NC_000007.13:g.72718278_74140708dup1422431 http://identifiers.org/clinvar/236531 ^@ NM_206933.2(USH2A):c.10996T>G (p.Cys3666Gly) http://identifiers.org/clinvar/236431 ^@ NM_152443.2(RDH12):c.848+2T>C http://identifiers.org/clinvar/236481 ^@ NM_001034853.1(RPGR):c.1572+1delG http://identifiers.org/clinvar/240081 ^@ NM_004958.3(MTOR):c.7365C>T (p.Val2455=) http://identifiers.org/clinvar/239431 ^@ NM_003000.2(SDHB):c.39G>T (p.Leu13Phe) http://identifiers.org/clinvar/241421 ^@ NM_022114.3(PRDM16):c.1537G>A (p.Gly513Ser) http://identifiers.org/clinvar/241371 ^@ NM_021007.2(SCN2A):c.2562+5A>G http://identifiers.org/clinvar/239078 ^@ NM_001927.3(DES):c.556G>T (p.Asp186Tyr) http://identifiers.org/clinvar/239831 ^@ NM_004304.4(ALK):c.3984G>A (p.Met1328Ile) http://identifiers.org/clinvar/239128 ^@ NM_002354.2(EPCAM):c.459A>G (p.Arg153=) http://identifiers.org/clinvar/237387 ^@ NM_000251.2(MSH2):c.2321T>G (p.Ile774Ser) http://identifiers.org/clinvar/237136 ^@ NM_000179.2(MSH6):c.1515T>C (p.Tyr505=) http://identifiers.org/clinvar/237186 ^@ NM_000179.2(MSH6):c.3256C>G (p.Pro1086Ala) http://identifiers.org/clinvar/241221 ^@ NM_017849.3(TMEM127):c.289G>A (p.Ala97Thr) http://identifiers.org/clinvar/239531 ^@ NM_003242.5(TGFBR2):c.4G>T (p.Gly2Cys) http://identifiers.org/clinvar/241021 ^@ NM_015141.3(GPD1L):c.813G>T (p.Arg271=) http://identifiers.org/clinvar/237337 ^@ NM_000249.3(MLH1):c.318C>T (p.Ser106=) http://identifiers.org/clinvar/241071 ^@ NM_015896.3(ZMYND10):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/238577 ^@ NM_001148.4(ANK2):c.3366C>T (p.Asn1122=) http://identifiers.org/clinvar/240332 ^@ NM_006206.4(PDGFRA):c.2691C>T (p.Pro897=) http://identifiers.org/clinvar/237287 ^@ NM_000222.2(KIT):c.954G>A (p.Met318Ile) http://identifiers.org/clinvar/237237 ^@ NM_000222.2(KIT):c.1207A>G (p.Ile403Val) http://identifiers.org/clinvar/236581 ^@ NM_000038.5(APC):c.2795C>G (p.Ser932Ter) http://identifiers.org/clinvar/236631 ^@ NM_000038.5(APC):c.6474C>A (p.Pro2158=) http://identifiers.org/clinvar/240232 ^@ NM_005732.3(RAD50):c.3134T>G (p.Met1045Arg) http://identifiers.org/clinvar/238977 ^@ NM_001369.2(DNAH5):c.4961G>A (p.Arg1654Gln) http://identifiers.org/clinvar/239681 ^@ NM_004168.3(SDHA):c.698G>T (p.Gly233Val) http://identifiers.org/clinvar/240282 ^@ NM_006073.3(TRDN):c.1083G>C (p.Gly361=) http://identifiers.org/clinvar/239631 ^@ NM_004100.4(EYA4):c.971-7T>C http://identifiers.org/clinvar/239931 ^@ NM_004456.4(EZH2):c.247-10dupT http://identifiers.org/clinvar/259781 ^@ NM_005506.3(SCARB2):c.171T>C (p.Pro57=) http://identifiers.org/clinvar/258780 ^@ NM_002609.3(PDGFRB):c.85A>T (p.Ile29Phe) http://identifiers.org/clinvar/259380 ^@ NM_004387.3(NKX2-5):c.594G>A (p.Gln198=) http://identifiers.org/clinvar/263030 ^@ NM_182925.4(FLT4):c.1658-17T>G http://identifiers.org/clinvar/259330 ^@ NM_004370.5(COL12A1):c.4001-10G>A http://identifiers.org/clinvar/263130 ^@ NM_198428.2(BBS9):c.34A>G (p.Thr12Ala) http://identifiers.org/clinvar/259681 ^@ NM_005228.4(EGFR):c.559+10G>A http://identifiers.org/clinvar/256841 ^@ NM_000941.2(POR):c.1716G>A (p.Ser572=) http://identifiers.org/clinvar/254952 ^@ NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) http://identifiers.org/clinvar/259280 ^@ NM_004315.5(ASAH1):c.352-42G>A http://identifiers.org/clinvar/258630 ^@ NM_002316.3(LMX1B):c.886+18C>T http://identifiers.org/clinvar/256641 ^@ NM_000550.2(TYRP1):c.1082-9T>C http://identifiers.org/clinvar/262430 ^@ NM_139025.4(ADAMTS13):c.1852C>G (p.Pro618Ala) http://identifiers.org/clinvar/255102 ^@ NM_000093.4(COL5A1):c.925-49A>G http://identifiers.org/clinvar/255052 ^@ NM_000093.4(COL5A1):c.1569+3G>A http://identifiers.org/clinvar/259430 ^@ NM_004560.3(ROR2):c.1770C>T (p.Pro590=) http://identifiers.org/clinvar/257341 ^@ NM_001080449.2(DNA2):c.1899G>A (p.Ala633=) http://identifiers.org/clinvar/254752 ^@ NM_000051.3(ATM):c.3994-97G>A http://identifiers.org/clinvar/262680 ^@ NM_152722.4(HEPACAM):c.618C>T (p.Arg206=) http://identifiers.org/clinvar/262730 ^@ NM_153676.3(USH1C):c.*46T>C http://identifiers.org/clinvar/260031 ^@ NM_006757.3(TNNT3):c.82+7C>T http://identifiers.org/clinvar/259630 ^@ NM_005055.4(RAPSN):c.614G>A (p.Arg205Gln) http://identifiers.org/clinvar/256591 ^@ NM_000543.4(SMPD1):c.132_143delGCTGGCGCTGGC (p.Ala46_Leu49del) http://identifiers.org/clinvar/259831 ^@ NM_005609.3(PYGM):c.15G>C (p.Leu5=) http://identifiers.org/clinvar/262580 ^@ NM_145200.3(CABP4):c.800-5C>T http://identifiers.org/clinvar/257141 ^@ NM_001025356.2(ANO6):c.150+14C>T http://identifiers.org/clinvar/255752 ^@ NM_000289.5(PFKM):c.160-44A>G http://identifiers.org/clinvar/256691 ^@ NM_000552.4(VWF):c.657+11A>C http://identifiers.org/clinvar/255602 ^@ NM_000231.2(SGCG):c.505+46T>A http://identifiers.org/clinvar/258830 ^@ NM_002863.4(PYGL):c.1020C>T (p.Asp340=) http://identifiers.org/clinvar/255152 ^@ NM_000119.2(EPB42):c.29C>T (p.Ser10Leu) http://identifiers.org/clinvar/255652 ^@ NM_000259.3(MYO5A):c.3960A>T (p.Arg1320Ser) http://identifiers.org/clinvar/335727 ^@ NM_004304.4(ALK):c.-403G>A http://identifiers.org/clinvar/335777 ^@ NM_000379.3(XDH):c.1936A>G (p.Ile646Val) http://identifiers.org/clinvar/335277 ^@ NM_004321.7(KIF1A):c.1194G>A (p.Leu398=) http://identifiers.org/clinvar/336027 ^@ NM_022436.2(ABCG5):c.*522G>A http://identifiers.org/clinvar/336127 ^@ NM_133259.3(LRPPRC):c.*1335T>C http://identifiers.org/clinvar/335477 ^@ NM_000221.2(KHK):c.-324C>T http://identifiers.org/clinvar/335527 ^@ NM_002437.4(MPV17):c.164T>C (p.Val55Ala) http://identifiers.org/clinvar/336277 ^@ NM_001430.4(EPAS1):c.2367C>T (p.Ile789=) http://identifiers.org/clinvar/335577 ^@ NM_001029883.2(C2orf71):c.*2595A>G http://identifiers.org/clinvar/336534 ^@ NM_001135659.2(NRXN1):c.*573A>C http://identifiers.org/clinvar/336734 ^@ NM_032180.2(FAM161A):c.1821C>T (p.Val607=) http://identifiers.org/clinvar/336077 ^@ NM_022437.2(ABCG8):c.1203G>A (p.Thr401=) http://identifiers.org/clinvar/336884 ^@ NM_002056.3(GFPT1):c.-143G>T http://identifiers.org/clinvar/336177 ^@ NM_133259.3(LRPPRC):c.74G>A (p.Arg25His) http://identifiers.org/clinvar/337134 ^@ NM_013247.4(HTRA2):c.873T>C (p.Asn291=) http://identifiers.org/clinvar/336327 ^@ NM_139279.5(MCFD2):c.*3293A>C http://identifiers.org/clinvar/336377 ^@ NM_139279.5(MCFD2):c.*84T>C http://identifiers.org/clinvar/337434 ^@ NM_144563.2(RPIA):c.706G>A (p.Val236Met) http://identifiers.org/clinvar/337484 ^@ NM_017849.3(TMEM127):c.*1301T>C http://identifiers.org/clinvar/336684 ^@ NM_002618.3(PEX13):c.*944C>T http://identifiers.org/clinvar/337584 ^@ NM_020184.3(CNNM4):c.788A>G (p.Asn263Ser) http://identifiers.org/clinvar/336934 ^@ NM_032601.3(MCEE):c.*120_*121delTG http://identifiers.org/clinvar/337034 ^@ NM_015120.4(ALMS1):c.11890G>T (p.Val3964Phe) http://identifiers.org/clinvar/335227 ^@ NM_004321.7(KIF1A):c.*2257C>T http://identifiers.org/clinvar/335827 ^@ NM_014946.3(SPAST):c.-7G>A http://identifiers.org/clinvar/335877 ^@ NM_014946.3(SPAST):c.*2196A>T http://identifiers.org/clinvar/335927 ^@ NM_000104.3(CYP1B1):c.*1269T>A http://identifiers.org/clinvar/344003 ^@ NM_001041.3(SI):c.4951G>A (p.Val1651Ile) http://identifiers.org/clinvar/343103 ^@ NM_002880.3(RAF1):c.125C>T (p.Ala42Val) http://identifiers.org/clinvar/335627 ^@ NM_001029883.2(C2orf71):c.*506_*508delTTAinsCTG http://identifiers.org/clinvar/335677 ^@ NM_004304.4(ALK):c.*298C>T http://identifiers.org/clinvar/343153 ^@ NM_004637.5(RAB7A):c.-115C>T http://identifiers.org/clinvar/343253 ^@ NM_052985.3(IFT122):c.2568C>T (p.Arg856=) http://identifiers.org/clinvar/354569 ^@ NM_002397.4(MEF2C):c.*2639G>C http://identifiers.org/clinvar/354619 ^@ NM_000439.4(PCSK1):c.*1414A>C http://identifiers.org/clinvar/354669 ^@ NM_005068.2(SIM1):c.*375C>T http://identifiers.org/clinvar/354769 ^@ NM_001242957.2(MAK):c.*1563G>A http://identifiers.org/clinvar/357919 ^@ NM_012434.4(SLC17A5):c.*193A>G http://identifiers.org/clinvar/357969 ^@ NM_004415.3(DSP):c.*47T>C http://identifiers.org/clinvar/354969 ^@ NM_014028.3(OSTM1):c.*1038A>G http://identifiers.org/clinvar/351182 ^@ NM_199189.2(MATR3):c.*2171C>T http://identifiers.org/clinvar/351532 ^@ NM_006846.3(SPINK5):c.2290G>T (p.Gly764Trp) http://identifiers.org/clinvar/351582 ^@ NM_024577.3(SH3TC2):c.*21118G>T http://identifiers.org/clinvar/351832 ^@ NM_024577.3(SH3TC2):c.*4131T>C http://identifiers.org/clinvar/359458 ^@ NM_058246.3(DNAJB6):c.*72C>T http://identifiers.org/clinvar/352180 ^@ NM_005211.3(CSF1R):c.13G>C (p.Val5Leu) http://identifiers.org/clinvar/352230 ^@ NM_001135243.1(TCOF1):c.3620T>A (p.Met1207Lys) http://identifiers.org/clinvar/359658 ^@ NM_001277115.1(DNAH11):c.8533C>G (p.Arg2845Gly) http://identifiers.org/clinvar/359758 ^@ NM_032581.3(FAM126A):c.*435_*436delCTinsTG http://identifiers.org/clinvar/359808 ^@ NM_001031710.2(KLHL7):c.*376G>A http://identifiers.org/clinvar/352380 ^@ NM_000337.5(SGCD):c.*3918_*3921dupCTTA http://identifiers.org/clinvar/359958 ^@ NM_005522.4(HOXA1):c.566A>C (p.Glu189Ala) http://identifiers.org/clinvar/352280 ^@ NM_000405.4(GM2A):c.*1246A>G http://identifiers.org/clinvar/352430 ^@ NM_000337.5(SGCD):c.*6717G>A http://identifiers.org/clinvar/360308 ^@ NM_014855.2(AP5Z1):c.379G>A (p.Glu127Lys) http://identifiers.org/clinvar/360458 ^@ NM_005228.4(EGFR):c.1299-7A>G http://identifiers.org/clinvar/353269 ^@ NM_002185.3(IL7R):c.990G>A (p.Gln330=) http://identifiers.org/clinvar/357819 ^@ NM_001851.4(COL9A1):c.-107A>G http://identifiers.org/clinvar/353719 ^@ NM_000163.4(GHR):c.*2292A>G http://identifiers.org/clinvar/353419 ^@ NM_023073.3(C5orf42):c.8668G>C (p.Asp2890His) http://identifiers.org/clinvar/353769 ^@ NM_002203.3(ITGA2):c.2503A>G (p.Ser835Gly) http://identifiers.org/clinvar/353869 ^@ NM_176806.3(MOCS2):c.*1019G>A http://identifiers.org/clinvar/358119 ^@ NM_181714.3(LCA5):c.-584G>A http://identifiers.org/clinvar/306242 ^@ NM_024698.5(SLC25A22):c.*810C>T http://identifiers.org/clinvar/306292 ^@ NM_020376.3(PNPLA2):c.-31C>T http://identifiers.org/clinvar/306543 ^@ NM_016156.5(MTMR2):c.570+11T>C http://identifiers.org/clinvar/306593 ^@ NM_030962.3(SBF2):c.2669G>A (p.Arg890Gln) http://identifiers.org/clinvar/306643 ^@ NM_139319.2(SLC17A8):c.*507G>A http://identifiers.org/clinvar/364396 ^@ NM_005502.3(ABCA1):c.5020G>A (p.Val1674Ile) http://identifiers.org/clinvar/300399 ^@ NM_022124.5(CDH23):c.367G>C (p.Gly123Arg) http://identifiers.org/clinvar/300499 ^@ NM_002778.3(PSAP):c.*859C>T http://identifiers.org/clinvar/364446 ^@ NM_005502.3(ABCA1):c.1196T>C (p.Val399Ala) http://identifiers.org/clinvar/300599 ^@ NM_004273.4(CHST3):c.*1130C>G http://identifiers.org/clinvar/300649 ^@ NM_004273.4(CHST3):c.*3477G>A http://identifiers.org/clinvar/364596 ^@ NM_005592.3(MUSK):c.-43G>A http://identifiers.org/clinvar/364896 ^@ NM_002316.3(LMX1B):c.*172C>A http://identifiers.org/clinvar/364696 ^@ NM_015404.3(WHRN):c.837+5G>C http://identifiers.org/clinvar/364996 ^@ NM_002316.3(LMX1B):c.*4303T>G http://identifiers.org/clinvar/365046 ^@ NM_003165.3(STXBP1):c.-117T>C http://identifiers.org/clinvar/365196 ^@ NM_014908.3(DOLK):c.579G>A (p.Glu193=) http://identifiers.org/clinvar/365246 ^@ NM_054012.3(ASS1):c.-172C>T http://identifiers.org/clinvar/365096 ^@ NM_000118.3(ENG):c.220-6C>A http://identifiers.org/clinvar/365496 ^@ NM_000368.4(TSC1):c.*499C>T http://identifiers.org/clinvar/365596 ^@ NM_014694.3(ADAMTSL2):c.1477G>A (p.Glu493Lys) http://identifiers.org/clinvar/301449 ^@ NM_000314.6(PTEN):c.*1237A>G http://identifiers.org/clinvar/301549 ^@ NM_000235.3(LIPA):c.*1093C>T http://identifiers.org/clinvar/365646 ^@ NM_000787.3(DBH):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/301649 ^@ NM_006204.3(PDE6C):c.*247A>C http://identifiers.org/clinvar/365746 ^@ NM_000093.4(COL5A1):c.*267C>T http://identifiers.org/clinvar/298360 ^@ NM_000195.4(HPS1):c.-105-9C>T http://identifiers.org/clinvar/365696 ^@ NM_000093.4(COL5A1):c.-382C>G http://identifiers.org/clinvar/298460 ^@ NM_000392.4(ABCC2):c.2883+11C>T http://identifiers.org/clinvar/309542 ^@ NM_002282.3(KRT83):c.183C>T (p.Ala61=) http://identifiers.org/clinvar/309642 ^@ NM_006121.3(KRT1):c.1482T>C (p.Ser494=) http://identifiers.org/clinvar/309792 ^@ NM_002206.2(ITGA7):c.1506-14C>T http://identifiers.org/clinvar/309842 ^@ NM_000456.2(SUOX):c.1281G>T (p.Ser427=) http://identifiers.org/clinvar/310092 ^@ NM_000552.4(VWF):c.-72C>T http://identifiers.org/clinvar/302438 ^@ NM_001931.4(DLAT):c.-572G>A http://identifiers.org/clinvar/310292 ^@ NM_021150.3(GRIP1):c.*428C>T http://identifiers.org/clinvar/366586 ^@ NM_175073.2(APTX):c.*454G>C http://identifiers.org/clinvar/366636 ^@ NM_001497.3(B4GALT1):c.*879T>C http://identifiers.org/clinvar/302688 ^@ NM_000073.2(CD3G):c.*244A>G http://identifiers.org/clinvar/302838 ^@ NM_005188.3(CBL):c.*3656C>T http://identifiers.org/clinvar/310647 ^@ NM_001920.4(DCN):c.*160C>T http://identifiers.org/clinvar/302888 ^@ NM_005188.3(CBL):c.*6648T>G http://identifiers.org/clinvar/366486 ^@ NM_001256054.2(C9orf72):c.*1344C>T http://identifiers.org/clinvar/310797 ^@ NM_005888.3(SLC25A3):c.4T>C (p.Phe2Leu) http://identifiers.org/clinvar/366986 ^@ NM_001042413.1(GLIS3):c.1056G>C (p.Leu352=) http://identifiers.org/clinvar/314425 ^@ NM_017791.2(FLVCR2):c.*517C>T http://identifiers.org/clinvar/340664 ^@ NM_014339.6(IL17RA):c.*2721A>G http://identifiers.org/clinvar/314525 ^@ NM_013382.5(POMT2):c.*1516A>G http://identifiers.org/clinvar/340714 ^@ NM_014339.6(IL17RA):c.*4649G>T http://identifiers.org/clinvar/314625 ^@ NM_004863.3(SPTLC2):c.*2622A>C http://identifiers.org/clinvar/322360 ^@ NM_080669.5(SLC46A1):c.*3135A>G http://identifiers.org/clinvar/313036 ^@ NM_025152.2(NUBPL):c.*312G>A http://identifiers.org/clinvar/314825 ^@ NM_018319.3(TDP1):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/322510 ^@ NM_001045.5(SLC6A4):c.*1665T>C http://identifiers.org/clinvar/341364 ^@ NM_000362.4(TIMP3):c.*1536delG http://identifiers.org/clinvar/315025 ^@ NM_000295.4(SERPINA1):c.701T>A (p.Val234Glu) http://identifiers.org/clinvar/322810 ^@ NM_145068.3(TRPV3):c.-245G>A http://identifiers.org/clinvar/315125 ^@ NM_003384.2(VRK1):c.*107A>G http://identifiers.org/clinvar/322960 ^@ NM_001004334.3(GPR179):c.*362G>A http://identifiers.org/clinvar/341864 ^@ NM_001429.3(EP300):c.*966_*967delAC http://identifiers.org/clinvar/315525 ^@ NM_002420.5(TRPM1):c.1506+14A>G http://identifiers.org/clinvar/342014 ^@ NM_018006.4(TRMU):c.952C>G (p.Pro318Ala) http://identifiers.org/clinvar/342064 ^@ NM_024105.3(ALG12):c.-74C>T http://identifiers.org/clinvar/323710 ^@ NM_005910.5(MAPT):c.*2969G>A http://identifiers.org/clinvar/323810 ^@ NM_001193466.1(KANSL1):c.-461_-459delCCT http://identifiers.org/clinvar/316314 ^@ NM_000138.4(FBN1):c.*2078G>T http://identifiers.org/clinvar/316564 ^@ NM_182758.3(WDR72):c.*1006A>G http://identifiers.org/clinvar/314675 ^@ NM_004863.3(SPTLC2):c.723G>T (p.Thr241=) http://identifiers.org/clinvar/316714 ^@ NM_016630.6(SPG21):c.*593A= http://identifiers.org/clinvar/314725 ^@ NM_000369.2(TSHR):c.*1898A>G http://identifiers.org/clinvar/316814 ^@ NM_004727.2(SLC24A1):c.*721G>A http://identifiers.org/clinvar/314775 ^@ NM_018418.4(SPATA7):c.57G>T (p.Pro19=) http://identifiers.org/clinvar/316864 ^@ NM_005902.3(SMAD3):c.1125C>T (p.Ser375=) http://identifiers.org/clinvar/314925 ^@ NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) http://identifiers.org/clinvar/324808 ^@ NM_002734.4(PRKAR1A):c.*1346A>G http://identifiers.org/clinvar/324908 ^@ NM_000346.3(SOX9):c.-83G>T http://identifiers.org/clinvar/317314 ^@ NG_008218.2:g.22870C>T http://identifiers.org/clinvar/325008 ^@ NM_023036.4(DNAI2):c.325G>A (p.Ala109Thr) http://identifiers.org/clinvar/317415 ^@ NM_000057.3(BLM):c.*108C>T http://identifiers.org/clinvar/325058 ^@ NM_173477.4(USH1G):c.348C>T (p.Tyr116=) http://identifiers.org/clinvar/315575 ^@ NM_133647.1(SLC12A6):c.*2293G>A http://identifiers.org/clinvar/315175 ^@ NM_139057.3(ADAMTS17):c.*1759G>C http://identifiers.org/clinvar/325358 ^@ NM_004035.6(ACOX1):c.*756G>A http://identifiers.org/clinvar/315225 ^@ NM_139057.3(ADAMTS17):c.*498A>C http://identifiers.org/clinvar/315775 ^@ NM_152594.2(SPRED1):c.*3946G>A http://identifiers.org/clinvar/325458 ^@ NM_024599.5(RHBDF2):c.478C>T (p.Arg160Cys) http://identifiers.org/clinvar/317765 ^@ NM_004862.3(LITAF):c.*796T>C http://identifiers.org/clinvar/317815 ^@ NM_005236.2(ERCC4):c.1676G>A (p.Gly559Asp) http://identifiers.org/clinvar/325608 ^@ NM_006640.4(SEPT9):c.*1204A>G http://identifiers.org/clinvar/325759 ^@ NM_017950.3(CCDC40):c.*342G>A http://identifiers.org/clinvar/316414 ^@ NM_014985.3(CEP152):c.3515T>C (p.Met1172Thr) http://identifiers.org/clinvar/371830 ^@ NM_000038.5(APC):c.3956delC (p.Pro1319Leufs) http://identifiers.org/clinvar/372080 ^@ NM_020975.4(RET):c.3142C>G (p.Leu1048Val) http://identifiers.org/clinvar/371930 ^@ NM_006231.3(POLE):c.775C>T (p.Arg259Cys) http://identifiers.org/clinvar/371980 ^@ NM_000455.4(STK11):c.836_837delGCinsCT (p.Gly279Ala) http://identifiers.org/clinvar/371880 ^@ NM_001256849.1(POLD1):c.1137+16C>T http://identifiers.org/clinvar/372130 ^@ NM_001733.4(C1R):c.149_150delinsAT (p.Val50Asp) http://identifiers.org/clinvar/372204 ^@ NM_014339.6(IL17RA):c.1302_1318dup17 (p.Asn440Argfs) http://identifiers.org/clinvar/372263 ^@ NM_152305.2(POGLUT1):c.699T>G (p.Asp233Glu) http://identifiers.org/clinvar/373175 ^@ NM_018136.4(ASPM):c.1726_1727delAA (p.Lys576Glufs) http://identifiers.org/clinvar/372366 ^@ NM_000143.3(FH):c.1229C>T (p.Pro410Leu) http://identifiers.org/clinvar/373075 ^@ NM_020451.2(SELENON):c.-11_81del92 http://identifiers.org/clinvar/373625 ^@ NM_144573.3(NEXN):c.65A>G (p.Tyr22Cys) http://identifiers.org/clinvar/372316 ^@ NM_000388.3(CASR):c.1183T>C (p.Cys395Arg) http://identifiers.org/clinvar/373275 ^@ NM_032446.2(MEGF10):c.1292C>T (p.Ala431Val) http://identifiers.org/clinvar/373575 ^@ NM_000264.3(PTCH1):c.1544T>A (p.Val515Asp) http://identifiers.org/clinvar/373425 ^@ NM_003718.4(CDK13):c.2912C>T (p.Ala971Val) http://identifiers.org/clinvar/373725 ^@ NM_014915.2(ANKRD26):c.4391A>C (p.His1464Pro) http://identifiers.org/clinvar/373775 ^@ NM_000256.3(MYBPC3):c.458C>A (p.Pro153His) http://identifiers.org/clinvar/373475 ^@ NM_004588.4(SCN2B):c.485T>G (p.Val162Gly) http://identifiers.org/clinvar/373375 ^@ NM_033116.5(NEK9):c.727G>T (p.Glu243Ter) http://identifiers.org/clinvar/373225 ^@ NM_014191.3(SCN8A):c.5887G>A (p.Glu1963Lys) http://identifiers.org/clinvar/373675 ^@ NM_015386.2(COG4):c.2034C>A (p.Ser678Arg) http://identifiers.org/clinvar/373025 ^@ NM_152594.2(SPRED1):c.71G>A (p.Arg24Gln) http://identifiers.org/clinvar/373325 ^@ NM_001127464.2(ZNF469):c.8678G>A (p.Cys2893Tyr) http://identifiers.org/clinvar/372975 ^@ NM_001127221.1(CACNA1A):c.3535dupC (p.Leu1179Profs) http://identifiers.org/clinvar/373125 ^@ NM_032485.5(MCM8):c.278_281delTTGA (p.Ile93Argfs) http://identifiers.org/clinvar/372924 ^@ NM_006767.3(LZTR1):c.774delT (p.Phe258Leufs) http://identifiers.org/clinvar/373525 ^@ NM_003159.2(CDKL5):c.2520C>T (p.Arg840=) http://identifiers.org/clinvar/373825 ^@ NM_000059.3(BRCA2):c.4962T>A (p.Cys1654Ter) http://identifiers.org/clinvar/373875 ^@ NG_005905.2:g.(?_92501)_(172307_?)del http://identifiers.org/clinvar/374178 ^@ NM_001206744.1(TPO):c.1558C>T (p.His520Tyr) http://identifiers.org/clinvar/374078 ^@ NM_014946.3(SPAST):c.1117delG (p.Ala373Leufs) http://identifiers.org/clinvar/373978 ^@ NM_000441.1(SLC26A4):c.1693T>G (p.Cys565Gly) http://identifiers.org/clinvar/374128 ^@ NM_016203.3(PRKAG2):c.590C>G (p.Pro197Arg) http://identifiers.org/clinvar/373928 ^@ NM_000525.3(KCNJ11):c.185C>G (p.Thr62Arg) http://identifiers.org/clinvar/374028 ^@ NM_000180.3(GUCY2D):c.1315G>A (p.Gly439Arg) http://identifiers.org/clinvar/374232 ^@ NM_199460.3(CACNA1C):c.1841T>C (p.Leu614Pro) http://identifiers.org/clinvar/374302 ^@ NM_003238.4(TGFB2):c.458G>A (p.Arg153His) http://identifiers.org/clinvar/374352 ^@ NM_000131.4(F7):c.1285G>A (p.Ala429Thr) http://identifiers.org/clinvar/374830 ^@ NM_004341.4(CAD):c.1843-3C>T http://identifiers.org/clinvar/374880 ^@ NM_016011.3(MECR):c.830+2_830+3insT http://identifiers.org/clinvar/381471 ^@ NM_000179.2(MSH6):c.260+17G>A http://identifiers.org/clinvar/393243 ^@ NM_000393.4(COL5A2):c.3084A>G (p.Lys1028=) http://identifiers.org/clinvar/390504 ^@ NM_015120.4(ALMS1):c.11414G>C (p.Arg3805Thr) http://identifiers.org/clinvar/391254 ^@ NM_016247.3(IMPG2):c.2614G>A (p.Val872Ile) http://identifiers.org/clinvar/378878 ^@ NM_198056.2(SCN5A):c.5373C>T (p.Phe1791=) http://identifiers.org/clinvar/380870 ^@ NM_006514.3(SCN10A):c.3088-20T>C http://identifiers.org/clinvar/378727 ^@ NM_003242.5(TGFBR2):c.94+16245G>A http://identifiers.org/clinvar/392993 ^@ NM_032682.5(FOXP1):c.574C>T (p.Gln192Ter) http://identifiers.org/clinvar/379028 ^@ NM_000251.2(MSH2):c.1617T>C (p.Phe539=) http://identifiers.org/clinvar/388565 ^@ NM_005051.2(QARS):c.1056-13C>T http://identifiers.org/clinvar/390304 ^@ NM_033337.2(CAV3):c.*123A>G http://identifiers.org/clinvar/378475 ^@ NM_022912.2(REEP1):c.-15G>A http://identifiers.org/clinvar/388665 ^@ NM_181705.3(LYRM7):c.-34T>G http://identifiers.org/clinvar/389315 ^@ NM_001184.3(ATR):c.2958T>C (p.Asp986=) http://identifiers.org/clinvar/384415 ^@ NM_000426.3(LAMA2):c.7300+19A>G http://identifiers.org/clinvar/378120 ^@ NM_022132.4(MCCC2):c.-20C>G http://identifiers.org/clinvar/389015 ^@ NM_032380.4(GFM2):c.1806T>A (p.Ser602=) http://identifiers.org/clinvar/393143 ^@ NM_005045.3(RELN):c.877G>A (p.Asp293Asn) http://identifiers.org/clinvar/378220 ^@ NM_004999.3(MYO6):c.3814C>T (p.Arg1272Trp) http://identifiers.org/clinvar/388115 ^@ NM_002291.2(LAMB1):c.468T>C (p.Phe156=) http://identifiers.org/clinvar/390204 ^@ NM_001999.3(FBN2):c.2856G>T (p.Thr952=) http://identifiers.org/clinvar/379528 ^@ NM_005005.2(NDUFB9):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/388415 ^@ NM_005431.1(XRCC2):c.122-13A>T http://identifiers.org/clinvar/379378 ^@ NM_001101.3(ACTB):c.364-16T>C http://identifiers.org/clinvar/388965 ^@ NM_000445.4(PLEC):c.10778C>T (p.Ala3593Val) http://identifiers.org/clinvar/388615 ^@ NM_000118.3(ENG):c.1687-17C>T http://identifiers.org/clinvar/379929 ^@ NM_024596.4(MCPH1):c.1759A>G (p.Ile587Val) http://identifiers.org/clinvar/392793 ^@ NM_001130438.2(SPTAN1):c.1633G>T (p.Ala545Ser) http://identifiers.org/clinvar/133018 ^@ NM_000540.2(RYR1):c.11748T>G (p.Ile3916Met) http://identifiers.org/clinvar/133068 ^@ NM_000540.2(RYR1):c.14449A>T (p.Ile4817Phe) http://identifiers.org/clinvar/133118 ^@ NM_000540.2(RYR1):c.2578-23C>G http://identifiers.org/clinvar/133168 ^@ NM_000540.2(RYR1):c.6640G>A (p.Val2214Ile) http://identifiers.org/clinvar/133218 ^@ NM_000540.2(RYR1):c.8188G>C (p.Asp2730His) http://identifiers.org/clinvar/133294 ^@ NM_021008.3(DEAF1):c.762A>C (p.Arg254Ser) http://identifiers.org/clinvar/133360 ^@ NM_017617.4(NOTCH1):c.5167+174G>A http://identifiers.org/clinvar/133410 ^@ NM_003820.3(TNFRSF14):c.305-191C>G http://identifiers.org/clinvar/133460 ^@ NM_004304.4(ALK):c.592G>A (p.Val198Met) http://identifiers.org/clinvar/133511 ^@ NM_000038.5(APC):c.5743A>G (p.Lys1915Glu) http://identifiers.org/clinvar/133561 ^@ NM_152641.3(ARID2):c.2579A>G (p.Asn860Ser) http://identifiers.org/clinvar/133611 ^@ NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) http://identifiers.org/clinvar/133661 ^@ NM_004656.3(BAP1):c.905C>T (p.Pro302Leu) http://identifiers.org/clinvar/133711 ^@ NM_000057.3(BLM):c.847A>G (p.Thr283Ala) http://identifiers.org/clinvar/133765 ^@ NM_001211.5(BUB1B):c.1397A>C (p.Asp466Ala) http://identifiers.org/clinvar/133815 ^@ NM_005188.3(CBL):c.388A>G (p.Ile130Val) http://identifiers.org/clinvar/134761 ^@ NM_170606.2(KMT2C):c.6008C>T (p.Thr2003Ile) http://identifiers.org/clinvar/134811 ^@ NM_170606.2(KMT2C):c.12655C>G (p.Leu4219Val) http://identifiers.org/clinvar/135450 ^@ NM_000553.4(WRN):c.1240C>G (p.Leu414Val) http://identifiers.org/clinvar/135500 ^@ NM_000545.6(HNF1A):c.1309+181dupA http://identifiers.org/clinvar/135550 ^@ NM_000215.3(JAK3):c.1441+262C>A http://identifiers.org/clinvar/135614 ^@ NM_002136.3(HNRNPA1):c.955A>G (p.Arg319Gly) http://identifiers.org/clinvar/135685 ^@ NM_000038.5(APC):c.1554G>A (p.Thr518=) http://identifiers.org/clinvar/135736 ^@ NM_000051.3(ATM):c.1846A>G (p.Thr616Ala) http://identifiers.org/clinvar/135790 ^@ NM_000059.3(BRCA2):c.10203G>A (p.Thr3401=) http://identifiers.org/clinvar/135845 ^@ NM_000249.3(MLH1):c.1175A>G (p.Lys392Arg) http://identifiers.org/clinvar/135895 ^@ NM_000264.3(PTCH1):c.3692T>C (p.Val1231Ala) http://identifiers.org/clinvar/135945 ^@ NM_000535.6(PMS2):c.773G>A (p.Ser258Asn) http://identifiers.org/clinvar/135997 ^@ NM_001166110.1(PALLD):c.125_139delCCTCCAGCCCCAGCT (p.Pro45_Ser49del) http://identifiers.org/clinvar/136047 ^@ NM_002485.4(NBN):c.819A>T (p.Thr273=) http://identifiers.org/clinvar/136098 ^@ NM_020975.4(RET):c.1344C>G (p.Asn448Lys) http://identifiers.org/clinvar/136148 ^@ NM_032043.2(BRIP1):c.3042T>C (p.Gly1014=) http://identifiers.org/clinvar/136208 ^@ NM_130838.1(UBE3A):c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del) http://identifiers.org/clinvar/136259 ^@ NM_000017.3(ACADS):c.321T>C (p.Arg107=) http://identifiers.org/clinvar/136310 ^@ NM_000026.3(ADSL):c.27G>T (p.Ser9=) http://identifiers.org/clinvar/136361 ^@ NM_000692.4(ALDH1B1):c.257C>T (p.Ala86Val) http://identifiers.org/clinvar/184261 ^@ NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter) http://identifiers.org/clinvar/186752 ^@ NM_002878.3(RAD51D):c.12C>G (p.Leu4=) http://identifiers.org/clinvar/185900 ^@ NM_007294.3(BRCA1):c.5153-2A>G http://identifiers.org/clinvar/185700 ^@ NM_007294.3(BRCA1):c.4353A>G (p.Glu1451=) http://identifiers.org/clinvar/186902 ^@ NM_007294.3(BRCA1):c.3644A>G (p.Asn1215Ser) http://identifiers.org/clinvar/184411 ^@ NM_058216.2(RAD51C):c.7G>A (p.Gly3Arg) http://identifiers.org/clinvar/184811 ^@ NM_032043.2(BRIP1):c.2419T>C (p.Leu807=) http://identifiers.org/clinvar/184161 ^@ NM_000455.4(STK11):c.651G>A (p.Pro217=) http://identifiers.org/clinvar/184011 ^@ NM_000455.4(STK11):c.1276C>T (p.Arg426Trp) http://identifiers.org/clinvar/187795 ^@ NM_005215.3(DCC):c.571dupG (p.Val191Glyfs) http://identifiers.org/clinvar/187874 ^@ NM_005957.4(MTHFR):c.388T>C (p.Cys130Arg) http://identifiers.org/clinvar/187924 ^@ NM_004409.4(DMPK):c.*224_*226[146] http://identifiers.org/clinvar/187974 ^@ NM_004409.4(DMPK):c.*224_*226[391] http://identifiers.org/clinvar/188389 ^@ NM_015102.4(NPHP4):c.3574C>T (p.Arg1192Trp) http://identifiers.org/clinvar/188333 ^@ NM_000297.3(PKD2):c.70C>T (p.Pro24Ser) http://identifiers.org/clinvar/188281 ^@ NM_032444.2(SLX4):c.3367T>C (p.Ser1123Pro) http://identifiers.org/clinvar/188544 ^@ NM_000256.3(MYBPC3):c.1224-52G>A http://identifiers.org/clinvar/188644 ^@ NM_000257.3(MYH7):c.5400C>T (p.Ala1800=) http://identifiers.org/clinvar/188594 ^@ NM_000257.3(MYH7):c.345+24G>A http://identifiers.org/clinvar/188694 ^@ NM_001018005.1(TPM1):c.240+24C>T http://identifiers.org/clinvar/188444 ^@ NM_001943.4(DSG2):c.178G>A (p.Glu60Lys) http://identifiers.org/clinvar/188494 ^@ NM_004992.3(MECP2):c.573delC (p.Ser194Alafs) http://identifiers.org/clinvar/188844 ^@ NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter) http://identifiers.org/clinvar/188895 ^@ NM_000051.3(ATM):c.640delT (p.Ser214Profs) http://identifiers.org/clinvar/189096 ^@ NM_000543.4(SMPD1):c.538_539delTT (p.Leu180Alafs) http://identifiers.org/clinvar/188995 ^@ NM_000053.3(ATP7B):c.524_525delAA (p.Lys175Serfs) http://identifiers.org/clinvar/189046 ^@ NM_000520.5(HEXA):c.1307_1308delTA (p.Ile436Serfs) http://identifiers.org/clinvar/188744 ^@ NM_000303.2(PMM2):c.24delC (p.Cys9Alafs) http://identifiers.org/clinvar/188945 ^@ NM_000151.3(G6PC):c.1012G>T (p.Val338Phe) http://identifiers.org/clinvar/188794 ^@ NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) http://identifiers.org/clinvar/189146 ^@ NM_004646.3(NPHS1):c.3312-1G>A http://identifiers.org/clinvar/189196 ^@ NM_000718.3(CACNA1B):c.4166G>A (p.Arg1389His) http://identifiers.org/clinvar/189264 ^@ NM_014795.3(ZEB2):c.20_21insT (p.Asp8Glyfs) http://identifiers.org/clinvar/189316 ^@ NM_002223.3(ITPR2):c.7492G>A (p.Gly2498Ser) http://identifiers.org/clinvar/189470 ^@ NM_000314.6(PTEN):c.-1096G>A http://identifiers.org/clinvar/189408 ^@ NM_000314.6(PTEN):c.-845A>C http://identifiers.org/clinvar/189636 ^@ NM_004992.3(MECP2):c.1030_1195del166insGT (p.Arg344Valfs) http://identifiers.org/clinvar/189736 ^@ NM_004992.3(MECP2):c.914_1172del259 (p.Lys305Metfs) http://identifiers.org/clinvar/189536 ^@ NM_003159.2(CDKL5):c.333A>G (p.Lys111=) http://identifiers.org/clinvar/189586 ^@ NM_003159.2(CDKL5):c.403+1G>A http://identifiers.org/clinvar/189686 ^@ NM_004992.3:c.(?_27)_(1029_?)del http://identifiers.org/clinvar/189791 ^@ NM_183059.2(RD3):c.180C>A (p.Tyr60Ter) http://identifiers.org/clinvar/189870 ^@ NM_001165963.1(SCN1A):c.4906C>T (p.Arg1636Ter) http://identifiers.org/clinvar/189920 ^@ NM_001165963.1(SCN1A):c.1265T>C (p.Val422Ala) http://identifiers.org/clinvar/226579 ^@ NM_001277115.1(DNAH11):c.11233G>A (p.Glu3745Lys) http://identifiers.org/clinvar/227600 ^@ NM_000257.3(MYH7):c.5656-5C>T http://identifiers.org/clinvar/226529 ^@ NM_004086.2(COCH):c.841G>A (p.Asp281Asn) http://identifiers.org/clinvar/226679 ^@ NM_001130089.1(KARS):c.1342C>T (p.Arg448Cys) http://identifiers.org/clinvar/227520 ^@ NM_144612.6(LOXHD1):c.3846C>T (p.Asn1282=) http://identifiers.org/clinvar/227550 ^@ NC_012920.1:m.1536A>G http://identifiers.org/clinvar/234305 ^@ NM_004895.4(NLRP3):c.2744C>T (p.Thr915Met) http://identifiers.org/clinvar/234629 ^@ NM_000179.2(MSH6):c.763G>A (p.Glu255Lys) http://identifiers.org/clinvar/234829 ^@ NM_000535.6(PMS2):c.1145G>A (p.Gly382Asp) http://identifiers.org/clinvar/234679 ^@ NM_000535.6(PMS2):c.799T>C (p.Phe267Leu) http://identifiers.org/clinvar/234477 ^@ NM_000535.6(PMS2):c.40G>T (p.Ala14Ser) http://identifiers.org/clinvar/234779 ^@ NM_002180.2(IGHMBP2):c.2429C>T (p.Pro810Leu) http://identifiers.org/clinvar/234427 ^@ NM_000059.3(BRCA2):c.4771T>A (p.Cys1591Ser) http://identifiers.org/clinvar/234357 ^@ NM_000243.2(MEFV):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/234528 ^@ NM_004360.4(CDH1):c.1493A>C (p.Asp498Ala) http://identifiers.org/clinvar/234579 ^@ NM_032043.2(BRIP1):c.2365G>T (p.Val789Leu) http://identifiers.org/clinvar/234729 ^@ NM_000891.2(KCNJ2):c.902T>G (p.Met301Arg) http://identifiers.org/clinvar/232352 ^@ NM_007194.3(CHEK2):c.520C>T (p.Leu174Phe) http://identifiers.org/clinvar/232452 ^@ NM_000465.3(BARD1):c.1274A>G (p.Asn425Ser) http://identifiers.org/clinvar/231502 ^@ NM_000465.3(BARD1):c.1101A>C (p.Ser367=) http://identifiers.org/clinvar/232252 ^@ NM_000179.2(MSH6):c.452A>T (p.Tyr151Phe) http://identifiers.org/clinvar/232603 ^@ NM_000249.3(MLH1):c.306G>A (p.Glu102=) http://identifiers.org/clinvar/233794 ^@ NM_000038.5(APC):c.1811C>G (p.Ala604Gly) http://identifiers.org/clinvar/263638 ^@ NM_000138.4(FBN1):c.1158C>G (p.Asn386Lys) http://identifiers.org/clinvar/264494 ^@ NM_005477.2(HCN4):c.1653C>A (p.Ile551=) http://identifiers.org/clinvar/263333 ^@ NM_002474.2(MYH11):c.1056G>A (p.Ser352=) http://identifiers.org/clinvar/263385 ^@ NM_006440.4(TXNRD2):c.1206G>A (p.Pro402=) http://identifiers.org/clinvar/264648 ^@ NM_017644.3(KLHL24):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/264709 ^@ NM_015999.5(ADIPOR1):c.31delC (p.Gln11Argfs) http://identifiers.org/clinvar/264759 ^@ NM_001242896.1(DEPDC5):c.3092C>A (p.Pro1031His) http://identifiers.org/clinvar/264864 ^@ NM_000059.3(BRCA2):c.632-551_632-550dup http://identifiers.org/clinvar/264914 ^@ NM_000059.3(BRCA2):c.6842-1384A>G http://identifiers.org/clinvar/264964 ^@ NM_000059.3(BRCA2):c.6842-374G>A http://identifiers.org/clinvar/264814 ^@ NM_007294.3(BRCA1):c.4358-1194T>C http://identifiers.org/clinvar/265016 ^@ NM_003742.2(ABCB11):c.3647G>C (p.Gly1216Ala) http://identifiers.org/clinvar/265069 ^@ NM_021098.2(CACNA1H):c.3744+1G>A http://identifiers.org/clinvar/266635 ^@ NM_000059.3(BRCA2):c.1448_1451dupCAGT (p.Lys485Serfs) http://identifiers.org/clinvar/266685 ^@ NM_000059.3(BRCA2):c.2208delA (p.Ala737Hisfs) http://identifiers.org/clinvar/266735 ^@ NM_000059.3(BRCA2):c.3100dupA (p.Ile1034Asnfs) http://identifiers.org/clinvar/266785 ^@ NM_000059.3(BRCA2):c.3972_3975delTACT (p.Tyr1324Terfs) http://identifiers.org/clinvar/266835 ^@ NM_000059.3(BRCA2):c.4853delAinsGCTCT (p.Asp1618Glyfs) http://identifiers.org/clinvar/266885 ^@ NM_000059.3(BRCA2):c.5623A>T (p.Lys1875Ter) http://identifiers.org/clinvar/266935 ^@ NM_000059.3(BRCA2):c.6262delA (p.Thr2088Leufs) http://identifiers.org/clinvar/266985 ^@ NM_000059.3(BRCA2):c.7110dupA (p.Ser2371Ilefs) http://identifiers.org/clinvar/267035 ^@ NM_000059.3(BRCA2):c.7781dupA (p.Ala2595Glyfs) http://identifiers.org/clinvar/267085 ^@ NM_000059.3(BRCA2):c.8434_8435insC (p.Gly2812Alafs) http://identifiers.org/clinvar/267135 ^@ NM_000059.3(BRCA2):c.9060dupT (p.Glu3021Terfs) http://identifiers.org/clinvar/266135 ^@ NM_007294.3(BRCA1):c.1049_1050delGA (p.Arg350Lysfs) http://identifiers.org/clinvar/266585 ^@ NM_007294.3(BRCA1):c.832dupA (p.Thr278Asnfs) http://identifiers.org/clinvar/267196 ^@ NC_000011.8:g.30967000_31704000del737001 http://identifiers.org/clinvar/267255 ^@ NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter) http://identifiers.org/clinvar/267336 ^@ NC_000019.10:g.(?_1206908)_(1226652_?)del http://identifiers.org/clinvar/267404 ^@ c.6404_6405insTT http://identifiers.org/clinvar/267642 ^@ NM_000059.3(BRCA2):c.426-?_6841+?dup http://identifiers.org/clinvar/267692 ^@ NM_000059.3(BRCA2):c.8331+2T>C http://identifiers.org/clinvar/267592 ^@ NM_007294.3(BRCA1):c.5278-?_5467+?dup http://identifiers.org/clinvar/267542 ^@ NM_007294.3(BRCA1):c.442-?_547+?dup http://identifiers.org/clinvar/267746 ^@ NM_014112.4(TRPS1):c.1630C>T (p.Arg544Ter) http://identifiers.org/clinvar/267821 ^@ 46;XX;t(3;12)(q13.2;q14)dn http://identifiers.org/clinvar/267872 ^@ 46;XY;t(5;7)(q14.3;q21.3)dn http://identifiers.org/clinvar/267922 ^@ 46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn http://identifiers.org/clinvar/267972 ^@ 46;XY;inv(17)(q24q25) http://identifiers.org/clinvar/268022 ^@ 46;XY;t(2;4)(p23;q27)dn http://identifiers.org/clinvar/268075 ^@ NC_000012.11:g.(?_1)_(133851895_?)dup http://identifiers.org/clinvar/268139 ^@ NM_005506.3(SCARB2):c.704+1G>A http://identifiers.org/clinvar/268210 ^@ NM_004958.3(MTOR):c.4606A>G (p.Ile1536Val) http://identifiers.org/clinvar/280788 ^@ NM_020699.3(GATAD2B):c.335+1G>T http://identifiers.org/clinvar/280438 ^@ NM_002016.1(FLG):c.779C>A (p.Ser260Ter) http://identifiers.org/clinvar/290964 ^@ NM_001193315.1(VIPAS39):c.1071C>T (p.Asn357=) http://identifiers.org/clinvar/291014 ^@ NM_018849.2(ABCB4):c.709A>T (p.Ile237Leu) http://identifiers.org/clinvar/291064 ^@ NM_000152.4(GAA):c.1285C>G (p.Gln429Glu) http://identifiers.org/clinvar/291114 ^@ NM_001111283.2(IGF1):c.470G>A (p.Arg157His) http://identifiers.org/clinvar/291165 ^@ NM_017534.5(MYH2):c.373A>C (p.Thr125Pro) http://identifiers.org/clinvar/291215 ^@ NM_001849.3(COL6A2):c.2567T>C (p.Val856Ala) http://identifiers.org/clinvar/291265 ^@ NM_000235.3(LIPA):c.11G>A (p.Arg4Gln) http://identifiers.org/clinvar/291380 ^@ NM_001918.3(DBT):c.*8734A>C http://identifiers.org/clinvar/291430 ^@ NM_001918.3(DBT):c.*2653_*2656dupAAAT http://identifiers.org/clinvar/291480 ^@ NM_001854.3(COL11A1):c.*953G>C http://identifiers.org/clinvar/291530 ^@ NM_001854.3(COL11A1):c.1792-15_1792-10dupATGATG http://identifiers.org/clinvar/291580 ^@ NM_015074.3(KIF1B):c.4127G>A (p.Arg1376His) http://identifiers.org/clinvar/291772 ^@ NM_006610.3(MASP2):c.*225T>C http://identifiers.org/clinvar/291822 ^@ NM_013319.2(UBIAD1):c.298T>G (p.Leu100Val) http://identifiers.org/clinvar/291872 ^@ NM_013319.2(UBIAD1):c.*148A>G http://identifiers.org/clinvar/291972 ^@ NM_002524.4(NRAS):c.*416A>C http://identifiers.org/clinvar/292272 ^@ NM_000198.3(HSD3B2):c.*177C>T http://identifiers.org/clinvar/291922 ^@ NM_003051.3(SLC16A1):c.-314A>G http://identifiers.org/clinvar/292022 ^@ NM_138959.2(VANGL1):c.*383C>G http://identifiers.org/clinvar/292122 ^@ NM_001232.3(CASQ2):c.*482C>T http://identifiers.org/clinvar/292222 ^@ NM_005957.4(MTHFR):c.*372_*373insTACC http://identifiers.org/clinvar/292072 ^@ NM_138959.2(VANGL1):c.*3770_*3773delCAAA http://identifiers.org/clinvar/292872 ^@ NM_001012331.1(NTRK1):c.212+10C>T http://identifiers.org/clinvar/292172 ^@ NM_005957.4(MTHFR):c.*3301A>G http://identifiers.org/clinvar/293022 ^@ NM_003126.2(SPTA1):c.2039-15T>C http://identifiers.org/clinvar/292722 ^@ NM_001111.4(ADAR):c.*1436G>T http://identifiers.org/clinvar/292772 ^@ NM_001111.4(ADAR):c.1910A>G (p.Lys637Arg) http://identifiers.org/clinvar/293172 ^@ NM_000702.3(ATP1A2):c.*1333dupA http://identifiers.org/clinvar/292372 ^@ NM_014874.3(MFN2):c.474+4A>G http://identifiers.org/clinvar/292322 ^@ NM_006623.3(PHGDH):c.*165_*166insGTAG http://identifiers.org/clinvar/292422 ^@ NM_213653.3(HFE2):c.286A>T (p.Thr96Ser) http://identifiers.org/clinvar/292972 ^@ NM_003126.2(SPTA1):c.5388G>A (p.Gln1796=) http://identifiers.org/clinvar/292472 ^@ NM_005267.4(GJA8):c.1096G>A (p.Val366Met) http://identifiers.org/clinvar/293122 ^@ NM_002241.4(KCNJ10):c.-183C>T http://identifiers.org/clinvar/292572 ^@ NM_019032.5(ADAMTSL4):c.*332A>G http://identifiers.org/clinvar/292622 ^@ NM_000449.3(RFX5):c.-98G>A http://identifiers.org/clinvar/292522 ^@ NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln) http://identifiers.org/clinvar/292672 ^@ NM_152263.3(TPM3):c.*2035C>T http://identifiers.org/clinvar/293622 ^@ NM_000130.4(F5):c.2218C>T (p.Arg740Ter) http://identifiers.org/clinvar/293672 ^@ NM_152281.2(GORAB):c.*818A>G http://identifiers.org/clinvar/292822 ^@ NM_000298.5(PKLR):c.-26C>T http://identifiers.org/clinvar/292922 ^@ NM_003126.2(SPTA1):c.*276T>C http://identifiers.org/clinvar/293072 ^@ NM_002241.4(KCNJ10):c.*3506C>T http://identifiers.org/clinvar/293222 ^@ NM_002857.3(PEX19):c.*328A>G http://identifiers.org/clinvar/293272 ^@ NM_004550.4(NDUFS2):c.162A>G (p.Pro54=) http://identifiers.org/clinvar/293572 ^@ NM_000130.4(F5):c.6589A>G (p.Ile2197Val) http://identifiers.org/clinvar/294661 ^@ NM_018136.4(ASPM):c.-114C>A http://identifiers.org/clinvar/293722 ^@ NM_000261.1(MYOC):c.224A>G (p.Gln75Arg) http://identifiers.org/clinvar/343303 ^@ NM_000539.3(RHO):c.*925T>C http://identifiers.org/clinvar/343403 ^@ NM_003571.3(BFSP2):c.366G>A (p.Val122=) http://identifiers.org/clinvar/335977 ^@ NM_005633.3(SOS1):c.*3189_*3192delTGTT http://identifiers.org/clinvar/343503 ^@ NM_024334.2(TMEM43):c.275T>C (p.Ile92Thr) http://identifiers.org/clinvar/343553 ^@ NM_004628.4(XPC):c.*483A>C http://identifiers.org/clinvar/343703 ^@ NM_032383.4(HPS3):c.1196G>T (p.Ser399Ile) http://identifiers.org/clinvar/336484 ^@ NM_000145.3(FSHR):c.947A>G (p.Glu316Gly) http://identifiers.org/clinvar/336584 ^@ NM_001135659.2(NRXN1):c.-1270A>C http://identifiers.org/clinvar/336227 ^@ NM_001430.4(EPAS1):c.-140G>A http://identifiers.org/clinvar/343953 ^@ NM_020800.2(IFT80):c.*937A>T http://identifiers.org/clinvar/336784 ^@ NM_002056.3(GFPT1):c.*6085C>G http://identifiers.org/clinvar/336434 ^@ NM_000251.2(MSH2):c.*141T>G http://identifiers.org/clinvar/344153 ^@ NM_000340.1(SLC2A2):c.*325delT http://identifiers.org/clinvar/336634 ^@ NM_001039348.2(EFEMP1):c.-52A>G http://identifiers.org/clinvar/336984 ^@ NM_003494.3(DYSF):c.*245T>C http://identifiers.org/clinvar/336834 ^@ NM_002056.3(GFPT1):c.*2464C>A http://identifiers.org/clinvar/337084 ^@ NM_004082.4(DCTN1):c.2136T>C (p.Asp712=) http://identifiers.org/clinvar/337534 ^@ NM_014014.4(SNRNP200):c.5409C>T (p.Ser1803=) http://identifiers.org/clinvar/342264 ^@ NM_033084.4(FANCD2):c.1232G>T (p.Cys411Phe) http://identifiers.org/clinvar/342364 ^@ NM_033084.4(FANCD2):c.1948-7C>T http://identifiers.org/clinvar/342314 ^@ NM_016247.3(IMPG2):c.*738_*743delTATATA http://identifiers.org/clinvar/346802 ^@ NM_014043.3(CHMP2B):c.-102C>T http://identifiers.org/clinvar/347102 ^@ NM_001059.2(TACR3):c.*202G>C http://identifiers.org/clinvar/347252 ^@ NM_001963.5(EGF):c.2759A>T (p.Glu920Val) http://identifiers.org/clinvar/347352 ^@ NM_001148.4(ANK2):c.*73T>C http://identifiers.org/clinvar/347402 ^@ NM_003619.3(PRSS12):c.511C>T (p.Arg171Ter) http://identifiers.org/clinvar/347502 ^@ NM_152618.2(BBS12):c.1277G>A (p.Cys426Tyr) http://identifiers.org/clinvar/347552 ^@ NM_031296.2(RAB33B):c.-205G>C http://identifiers.org/clinvar/343053 ^@ NM_025265.3(TSEN2):c.-374G>A http://identifiers.org/clinvar/347702 ^@ NM_000901.4(NR3C2):c.*1165C>T http://identifiers.org/clinvar/346452 ^@ NM_198859.3(PRICKLE2):c.*1589G>A http://identifiers.org/clinvar/343203 ^@ NM_014049.4(ACAD9):c.1476C>T (p.Pro492=) http://identifiers.org/clinvar/343453 ^@ NM_000532.4(PCCB):c.-37C>T http://identifiers.org/clinvar/346502 ^@ NM_000248.3(MITF):c.*12T>C http://identifiers.org/clinvar/343353 ^@ NM_153240.4(NPHP3):c.*1176G>A http://identifiers.org/clinvar/343603 ^@ NM_001184.3(ATR):c.4820G>A (p.Ser1607Asn) http://identifiers.org/clinvar/348152 ^@ NM_000320.2(QDPR):c.*31C>T http://identifiers.org/clinvar/348252 ^@ NM_001151.3(SLC25A4):c.*424A>G http://identifiers.org/clinvar/346752 ^@ NM_002942.4(ROBO2):c.*2668T>G http://identifiers.org/clinvar/343853 ^@ NM_005677.3(COLQ):c.367-3T>C http://identifiers.org/clinvar/343903 ^@ NM_000060.4(BTD):c.-27G>T http://identifiers.org/clinvar/343653 ^@ NM_000935.2(PLOD2):c.-73C>T http://identifiers.org/clinvar/353969 ^@ NM_001104631.1(PDE4D):c.*1201A>T http://identifiers.org/clinvar/358219 ^@ NM_006416.4(SLC35A1):c.*240G>T http://identifiers.org/clinvar/353819 ^@ NM_002203.3(ITGA2):c.*2198T>C http://identifiers.org/clinvar/354169 ^@ NM_003719.3(PDE8B):c.2145G>A (p.Thr715=) http://identifiers.org/clinvar/358419 ^@ NM_005045.3(RELN):c.340A>G (p.Ile114Val) http://identifiers.org/clinvar/358469 ^@ NM_006348.3(COG5):c.828T>A (p.Ile276=) http://identifiers.org/clinvar/362307 ^@ NM_006765.3(TUSC3):c.-48C>T http://identifiers.org/clinvar/354319 ^@ NM_000046.3(ARSB):c.-246C>T http://identifiers.org/clinvar/362457 ^@ NM_005144.4(HR):c.*931T>C http://identifiers.org/clinvar/354269 ^@ NM_000046.3(ARSB):c.*2578A>T http://identifiers.org/clinvar/354519 ^@ NM_002890.2(RASA1):c.1583A>G (p.Tyr528Cys) http://identifiers.org/clinvar/354469 ^@ NM_004385.4(VCAN):c.*18A>G http://identifiers.org/clinvar/359108 ^@ NM_000083.2(CLCN1):c.1251+11G>T http://identifiers.org/clinvar/363057 ^@ NM_006749.4(SLC20A2):c.*538C>T http://identifiers.org/clinvar/359308 ^@ NM_000238.3(KCNH2):c.2382C>T (p.Val794=) http://identifiers.org/clinvar/359358 ^@ NM_016203.3(PRKAG2):c.-274C>A http://identifiers.org/clinvar/359408 ^@ NM_022458.3(LMBR1):c.*650A>G http://identifiers.org/clinvar/354919 ^@ NM_007214.4(SEC63):c.225-10T>A http://identifiers.org/clinvar/355069 ^@ NM_000493.3(COL10A1):c.*1026G>A http://identifiers.org/clinvar/355019 ^@ NM_004752.3(GCM2):c.186C>T (p.Ser62=) http://identifiers.org/clinvar/355220 ^@ NM_006073.3(TRDN):c.610+11A>T http://identifiers.org/clinvar/355120 ^@ NM_001010892.2(RSPH4A):c.1247C>T (p.Ala416Val) http://identifiers.org/clinvar/359858 ^@ NM_004403.2(DFNA5):c.225G>A (p.Ser75=) http://identifiers.org/clinvar/363946 ^@ NM_018444.3(PDP1):c.*49C>A http://identifiers.org/clinvar/360108 ^@ NM_133468.4(BMPER):c.1207G>A (p.Val403Met) http://identifiers.org/clinvar/364496 ^@ NM_001079802.1(FKTN):c.*1017A>G http://identifiers.org/clinvar/364546 ^@ NM_003640.4(IKBKAP):c.*1062G>T http://identifiers.org/clinvar/364746 ^@ NM_018249.5(CDK5RAP2):c.5355G>A (p.Thr1785=) http://identifiers.org/clinvar/364946 ^@ NM_002316.3(LMX1B):c.*1935G>A http://identifiers.org/clinvar/364846 ^@ NM_000550.2(TYRP1):c.-119G>T http://identifiers.org/clinvar/365146 ^@ NM_001003722.1(GLE1):c.*933A>C http://identifiers.org/clinvar/360908 ^@ NM_194456.1(KRIT1):c.-741C>T http://identifiers.org/clinvar/365346 ^@ NM_015046.5(SETX):c.7121_7122delTG (p.Val2374Glyfs) http://identifiers.org/clinvar/365546 ^@ NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) http://identifiers.org/clinvar/361907 ^@ NM_003235.4(TG):c.198C>T (p.Asp66=) http://identifiers.org/clinvar/303138 ^@ NM_018400.3(SCN3B):c.*3748G>A http://identifiers.org/clinvar/367186 ^@ NM_000170.2(GLDC):c.1707+8G>A http://identifiers.org/clinvar/367286 ^@ NM_017662.4(TRPM6):c.*551A>G http://identifiers.org/clinvar/303288 ^@ NM_152722.4(HEPACAM):c.*1852C>G http://identifiers.org/clinvar/366786 ^@ NM_003995.3(NPR2):c.1644C>T (p.Val548=) http://identifiers.org/clinvar/366836 ^@ NM_005476.5(GNE):c.*554G>A http://identifiers.org/clinvar/303488 ^@ NM_016952.4(CDON):c.*140A>G http://identifiers.org/clinvar/303538 ^@ NM_017547.3(FOXRED1):c.662G>T (p.Trp221Leu) http://identifiers.org/clinvar/303638 ^@ NM_000890.3(KCNJ5):c.*200C>A http://identifiers.org/clinvar/311886 ^@ NM_001127217.2(SMAD9):c.*364T>C http://identifiers.org/clinvar/367136 ^@ NM_004972.3(JAK2):c.3252T>C (p.Asn1084=) http://identifiers.org/clinvar/311936 ^@ NM_207361.5(FREM2):c.319G>A (p.Val107Ile) http://identifiers.org/clinvar/312036 ^@ NM_207361.5(FREM2):c.9125A>G (p.Lys3042Arg) http://identifiers.org/clinvar/303888 ^@ NM_181507.1(HPS5):c.1501G>A (p.Gly501Arg) http://identifiers.org/clinvar/312136 ^@ NM_020751.2(COG6):c.663G>A (p.Thr221=) http://identifiers.org/clinvar/304088 ^@ NM_000360.3(TH):c.-18G>A http://identifiers.org/clinvar/298610 ^@ NM_016169.3(SUFU):c.*2956C>T http://identifiers.org/clinvar/304138 ^@ NM_213599.2(ANO5):c.*1674T>A http://identifiers.org/clinvar/312536 ^@ NM_005708.4(GPC6):c.-69C>T http://identifiers.org/clinvar/298810 ^@ NM_001134363.2(RBM20):c.*442G>A http://identifiers.org/clinvar/364096 ^@ NM_004612.3(TGFBR1):c.-13T>C http://identifiers.org/clinvar/312786 ^@ NM_020366.3(RPGRIP1):c.1077+13A>G http://identifiers.org/clinvar/312936 ^@ NM_006177.3(NRL):c.*213C>A http://identifiers.org/clinvar/298960 ^@ NM_004281.3(BAG3):c.1298A>G (p.Gln433Arg) http://identifiers.org/clinvar/298710 ^@ NM_000494.3(COL17A1):c.2534G>C (p.Gly845Ala) http://identifiers.org/clinvar/298910 ^@ NM_004132.4(HABP2):c.930G>A (p.Lys310=) http://identifiers.org/clinvar/299010 ^@ NM_000141.4(FGFR2):c.110-16_110-15delTC http://identifiers.org/clinvar/305379 ^@ NM_016938.4(EFEMP2):c.934A>G (p.Thr312Ala) http://identifiers.org/clinvar/314325 ^@ NM_000428.2(LTBP2):c.-97C>T http://identifiers.org/clinvar/305479 ^@ NM_024649.4(BBS1):c.*522C>T http://identifiers.org/clinvar/305529 ^@ NM_006946.2(SPTBN2):c.6735C>T (p.Asn2245=) http://identifiers.org/clinvar/299460 ^@ NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) http://identifiers.org/clinvar/305579 ^@ NM_006946.2(SPTBN2):c.1839G>A (p.Ser613=) http://identifiers.org/clinvar/314575 ^@ NM_004863.3(SPTLC2):c.*5531A>G http://identifiers.org/clinvar/299510 ^@ NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) http://identifiers.org/clinvar/305879 ^@ NM_002180.2(IGHMBP2):c.*744G>A http://identifiers.org/clinvar/315075 ^@ NM_177438.2(DICER1):c.*1630G>A http://identifiers.org/clinvar/306079 ^@ NM_005472.4(KCNE3):c.*122C>T http://identifiers.org/clinvar/315325 ^@ NM_139057.3(ADAMTS17):c.-4T>C http://identifiers.org/clinvar/315425 ^@ NM_144599.4(NIPA1):c.427T>G (p.Ser143Ala) http://identifiers.org/clinvar/306192 ^@ NM_000260.3(MYO7A):c.5214C>A (p.Ala1738=) http://identifiers.org/clinvar/315475 ^@ NM_000275.2(OCA2):c.588A>C (p.Leu196=) http://identifiers.org/clinvar/300549 ^@ NM_004273.4(CHST3):c.-274G>T http://identifiers.org/clinvar/306393 ^@ NM_012193.3(FZD4):c.*672C>T http://identifiers.org/clinvar/315725 ^@ NM_152594.2(SPRED1):c.-294C>T http://identifiers.org/clinvar/306493 ^@ NM_005591.3(MRE11):c.585T>C (p.Asn195=) http://identifiers.org/clinvar/311047 ^@ NM_001845.5(COL4A1):c.2955G>C (p.Gln985His) http://identifiers.org/clinvar/329437 ^@ NM_152296.4(ATP1A3):c.-148T>G http://identifiers.org/clinvar/309892 ^@ NM_005379.3(MYO1A):c.*65C>T http://identifiers.org/clinvar/329487 ^@ NM_212550.4(BLOC1S3):c.*946C>T http://identifiers.org/clinvar/310042 ^@ NM_000552.4(VWF):c.7240G>A (p.Ala2414Thr) http://identifiers.org/clinvar/329887 ^@ NM_030973.3(MED25):c.1966C>A (p.Pro656Thr) http://identifiers.org/clinvar/329987 ^@ NM_144687.3(NLRP12):c.*343A>G http://identifiers.org/clinvar/330087 ^@ NM_015629.3(PRPF31):c.-187C>A http://identifiers.org/clinvar/311836 ^@ NM_001127217.2(SMAD9):c.*2636C>T http://identifiers.org/clinvar/310392 ^@ NM_173353.3(TPH2):c.*149G>A http://identifiers.org/clinvar/310442 ^@ NM_001131025.1(PEX5):c.*322C>T http://identifiers.org/clinvar/310542 ^@ NM_018979.3(WNK1):c.296C>T (p.Pro99Leu) http://identifiers.org/clinvar/306693 ^@ NM_018979.3(WNK1):c.*1342G>A http://identifiers.org/clinvar/310847 ^@ NM_000282.3(PCCA):c.1236A>G (p.Pro412=) http://identifiers.org/clinvar/312336 ^@ NM_024570.3(RNASEH2B):c.*63G>T http://identifiers.org/clinvar/319406 ^@ NM_024589.2(ROGDI):c.175G>A (p.Glu59Lys) http://identifiers.org/clinvar/310997 ^@ NM_002312.3(LIG4):c.-29+15T>G http://identifiers.org/clinvar/312586 ^@ NM_005708.4(GPC6):c.*1675C>T http://identifiers.org/clinvar/319657 ^@ NM_015272.4(RPGRIP1L):c.2537T>C (p.Val846Ala) http://identifiers.org/clinvar/319707 ^@ NM_001080432.2(FTO):c.*1195T>C http://identifiers.org/clinvar/312686 ^@ NM_022489.3(INF2):c.1197C>T (p.His399=) http://identifiers.org/clinvar/312736 ^@ NM_000270.3(PNP):c.778_790delGTCTTAGCAGCTGinsCA (p.Val260Glnfs) http://identifiers.org/clinvar/312836 ^@ NM_001126106.2(SLC7A7):c.-263G>A http://identifiers.org/clinvar/338523 ^@ NM_000308.3(CTSA):c.13C>T (p.Pro5Ser) http://identifiers.org/clinvar/312886 ^@ NM_002471.3(MYH6):c.-64G>C http://identifiers.org/clinvar/311586 ^@ NM_018451.4(CENPJ):c.*779A>T http://identifiers.org/clinvar/312986 ^@ NM_000359.2(TGM1):c.566G>A (p.Gly189Asp) http://identifiers.org/clinvar/338723 ^@ NM_006420.2(ARFGEF2):c.*1564G>A http://identifiers.org/clinvar/338824 ^@ NM_000782.4(CYP24A1):c.776T>C (p.Leu259Pro) http://identifiers.org/clinvar/311636 ^@ NM_015972.3(POLR1D):c.-196G>C http://identifiers.org/clinvar/338874 ^@ NM_002591.3(PCK1):c.282C>T (p.Ile94=) http://identifiers.org/clinvar/311686 ^@ NM_004795.3(KL):c.595C>T (p.Arg199Cys) http://identifiers.org/clinvar/339074 ^@ NM_001001433.2(STX16):c.*1488A>C http://identifiers.org/clinvar/311786 ^@ NM_000538.3(RFXAP):c.354G>C (p.Ser118=) http://identifiers.org/clinvar/339324 ^@ NM_172107.3(KCNQ2):c.*412C>T http://identifiers.org/clinvar/339424 ^@ NM_025219.2(DNAJC5):c.*3257C>T http://identifiers.org/clinvar/312086 ^@ NM_207361.5(FREM2):c.*4437A>G http://identifiers.org/clinvar/312386 ^@ NM_000053.3(ATP7B):c.2755C>T (p.Arg919Trp) http://identifiers.org/clinvar/317665 ^@ NM_000833.4(GRIN2A):c.843C>T (p.Tyr281=) http://identifiers.org/clinvar/312486 ^@ NM_052910.2(SLITRK1):c.*1017G>A http://identifiers.org/clinvar/342114 ^@ NM_015166.3(MLC1):c.-207_-205dupTTC http://identifiers.org/clinvar/342164 ^@ NM_005198.4(CHKB):c.*96G>C http://identifiers.org/clinvar/328298 ^@ NM_006397.2(RNASEH2A):c.821A>G (p.Asn274Ser) http://identifiers.org/clinvar/328448 ^@ NM_173483.3(CYP4F22):c.1551G>T (p.Glu517Asp) http://identifiers.org/clinvar/328748 ^@ NM_014270.4(SLC7A9):c.1074+14C>A http://identifiers.org/clinvar/329387 ^@ NM_001022.3(RPS19):c.-10A>G http://identifiers.org/clinvar/327698 ^@ NM_133459.3(CCBE1):c.*154G>A http://identifiers.org/clinvar/329587 ^@ NM_025136.3(OPA3):c.*5357G>A http://identifiers.org/clinvar/327748 ^@ NM_003839.3(TNFRSF11A):c.*556A>G http://identifiers.org/clinvar/327798 ^@ NM_005786.5(TSHZ1):c.180C>T (p.Ser60=) http://identifiers.org/clinvar/329787 ^@ NM_000146.3(FTL):c.522C>T (p.His174=) http://identifiers.org/clinvar/329937 ^@ NM_024729.3(MYH14):c.3822G>A (p.Leu1274=) http://identifiers.org/clinvar/328048 ^@ NM_001128849.1(SMARCA4):c.*464G>T http://identifiers.org/clinvar/328098 ^@ NM_000527.4(LDLR):c.*1356C>T http://identifiers.org/clinvar/328148 ^@ NM_000121.3(EPOR):c.657C>A (p.Ala219=) http://identifiers.org/clinvar/330187 ^@ NM_206828.3(NLRP7):c.-9C>T http://identifiers.org/clinvar/330337 ^@ NM_000064.3(C3):c.681C>T (p.Tyr227=) http://identifiers.org/clinvar/328548 ^@ NM_000453.2(SLC5A5):c.*226T>C http://identifiers.org/clinvar/330487 ^@ NM_020533.2(MCOLN1):c.177G>A (p.Lys59=) http://identifiers.org/clinvar/328648 ^@ NM_003721.3(RFXANK):c.751C>G (p.Gln251Glu) http://identifiers.org/clinvar/330587 ^@ NM_030957.3(ADAMTS10):c.2283T>C (p.Pro761=) http://identifiers.org/clinvar/329537 ^@ NM_202001.2(ERCC1):c.326G>A (p.Gly109Asp) http://identifiers.org/clinvar/329637 ^@ NM_025136.3(OPA3):c.*2590G>T http://identifiers.org/clinvar/338673 ^@ NM_000311.4(PRNP):c.*1412T>A http://identifiers.org/clinvar/329687 ^@ NM_025136.3(OPA3):c.-75G>A http://identifiers.org/clinvar/338774 ^@ NM_020436.4(SALL4):c.1738T>G (p.Ser580Ala) http://identifiers.org/clinvar/329737 ^@ NM_000554.5(CRX):c.*1149G>A http://identifiers.org/clinvar/338924 ^@ NM_004738.4(VAPB):c.-159_-158insCC http://identifiers.org/clinvar/338974 ^@ NM_004738.4(VAPB):c.*3444_*3451delCATGTGTG http://identifiers.org/clinvar/330037 ^@ NM_144687.3(NLRP12):c.779C>T (p.Thr260Met) http://identifiers.org/clinvar/339224 ^@ NM_017671.4(FERMT1):c.763C>T (p.Arg255Cys) http://identifiers.org/clinvar/330137 ^@ NM_024075.4(TSEN34):c.*496T>A http://identifiers.org/clinvar/330287 ^@ NM_000064.3(C3):c.4095C>G (p.Val1365=) http://identifiers.org/clinvar/339474 ^@ NM_012469.3(PRPF6):c.1449G>A (p.Val483=) http://identifiers.org/clinvar/339524 ^@ NM_015192.3(PLCB1):c.*632A>G http://identifiers.org/clinvar/330437 ^@ NM_000208.3(INSR):c.*12G>A http://identifiers.org/clinvar/330537 ^@ NM_006702.4(PNPLA6):c.3768C>G (p.Pro1256=) http://identifiers.org/clinvar/338473 ^@ NM_000457.4(HNF4A):c.*2600T>C http://identifiers.org/clinvar/340614 ^@ NM_014339.6(IL17RA):c.*34T>C http://identifiers.org/clinvar/338573 ^@ NM_001250.5(CD40):c.371C>T (p.Ser124Leu) http://identifiers.org/clinvar/340964 ^@ NM_022081.5(HPS4):c.*1687A>G http://identifiers.org/clinvar/341014 ^@ NM_022081.5(HPS4):c.877C>G (p.Leu293Val) http://identifiers.org/clinvar/339024 ^@ NM_004738.4(VAPB):c.*6578T>G http://identifiers.org/clinvar/339124 ^@ NM_207034.2(EDN3):c.426G>A (p.Ala142=) http://identifiers.org/clinvar/341164 ^@ NM_000268.3(NF2):c.*3189G>T http://identifiers.org/clinvar/339374 ^@ NM_025219.2(DNAJC5):c.*817C>T http://identifiers.org/clinvar/341414 ^@ NM_004737.5(LARGE1):c.*921C>G http://identifiers.org/clinvar/341514 ^@ NM_002473.5(MYH9):c.3605C>T (p.Ala1202Val) http://identifiers.org/clinvar/339624 ^@ NM_000484.3(APP):c.*590C>A http://identifiers.org/clinvar/341664 ^@ NM_022098.3(XPNPEP3):c.-41C>A http://identifiers.org/clinvar/341714 ^@ NM_022098.3(XPNPEP3):c.*2630C>T http://identifiers.org/clinvar/341814 ^@ NM_001429.3(EP300):c.5179C>T (p.Pro1727Ser) http://identifiers.org/clinvar/341914 ^@ NM_000262.2(NAGA):c.25C>T (p.Leu9=) http://identifiers.org/clinvar/341964 ^@ NM_025225.2(PNPLA3):c.*1076C>T http://identifiers.org/clinvar/388765 ^@ NM_032578.3(MYPN):c.282T>C (p.Thr94=) http://identifiers.org/clinvar/384465 ^@ NM_004329.2(BMPR1A):c.-153+18A>C http://identifiers.org/clinvar/378425 ^@ NM_016203.3(PRKAG2):c.-30G>A http://identifiers.org/clinvar/379879 ^@ NM_000264.3(PTCH1):c.1585A>T (p.Lys529Ter) http://identifiers.org/clinvar/388515 ^@ NM_000051.3(ATM):c.3747-7T>C http://identifiers.org/clinvar/390604 ^@ NM_003070.4(SMARCA2):c.3386G>A (p.Gly1129Asp) http://identifiers.org/clinvar/390754 ^@ NM_000218.2(KCNQ1):c.1884C>T (p.Gly628=) http://identifiers.org/clinvar/391354 ^@ NM_002180.2(IGHMBP2):c.2022G>A (p.Arg674=) http://identifiers.org/clinvar/383575 ^@ NM_000051.3(ATM):c.2254C>T (p.Leu752=) http://identifiers.org/clinvar/391204 ^@ NM_023110.2(FGFR1):c.297T>C (p.Tyr99=) http://identifiers.org/clinvar/389165 ^@ NM_000051.3(ATM):c.5496+11T>C http://identifiers.org/clinvar/379328 ^@ NM_000051.3(ATM):c.496+14G>C http://identifiers.org/clinvar/391004 ^@ NM_006231.3(POLE):c.3096C>T (p.Leu1032=) http://identifiers.org/clinvar/390804 ^@ NM_000051.3(ATM):c.3771A>G (p.Pro1257=) http://identifiers.org/clinvar/392893 ^@ NM_006231.3(POLE):c.2154C>T (p.Tyr718=) http://identifiers.org/clinvar/381221 ^@ NM_000256.3(MYBPC3):c.408G>C (p.Gly136=) http://identifiers.org/clinvar/388165 ^@ NM_001844.4(COL2A1):c.3566C>A (p.Pro1189His) http://identifiers.org/clinvar/391404 ^@ NM_000256.3(MYBPC3):c.2895G>A (p.Gln965=) http://identifiers.org/clinvar/388365 ^@ NM_020547.3(AMHR2):c.502G>A (p.Ala168Thr) http://identifiers.org/clinvar/392843 ^@ NM_000093.4(COL5A1):c.2174A>G (p.Asn725Ser) http://identifiers.org/clinvar/390954 ^@ NM_000391.3(TPP1):c.230-19C>T http://identifiers.org/clinvar/381621 ^@ NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) http://identifiers.org/clinvar/392943 ^@ NM_005932.3(MIPEP):c.2045G>A (p.Gly682Asp) http://identifiers.org/clinvar/378928 ^@ NM_000059.3(BRCA2):c.6297A>G (p.Arg2099=) http://identifiers.org/clinvar/381121 ^@ NM_017882.2(CLN6):c.741C>T (p.His247=) http://identifiers.org/clinvar/381321 ^@ NM_000257.3(MYH7):c.4170-15C>A http://identifiers.org/clinvar/388215 ^@ NM_130838.1(UBE3A):c.684A>G (p.Lys228=) http://identifiers.org/clinvar/379228 ^@ NM_001171.5(ABCC6):c.1077A>C (p.Ser359=) http://identifiers.org/clinvar/391304 ^@ NM_016938.4(EFEMP2):c.258C>T (p.Ala86=) http://identifiers.org/clinvar/379628 ^@ NM_005159.4(ACTC1):c.129+18C>A http://identifiers.org/clinvar/391154 ^@ NM_001271.3(CHD2):c.2973+11A>G http://identifiers.org/clinvar/389115 ^@ NM_016373.3(WWOX):c.1029C>G (p.Thr343=) http://identifiers.org/clinvar/380971 ^@ NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) http://identifiers.org/clinvar/388865 ^@ NM_001101362.2(KBTBD13):c.516C>T (p.Asp172=) http://identifiers.org/clinvar/390104 ^@ NM_000548.4(TSC2):c.3472C>G (p.Pro1158Ala) http://identifiers.org/clinvar/48495 ^@ NM_206933.2(USH2A):c.3123C>A (p.His1041Gln) http://identifiers.org/clinvar/25 ^@ NM_015600.4(ABHD12):c.-6898_191+7002delinsCC http://identifiers.org/clinvar/73 ^@ NM_000374.4(UROD):c.494T>G (p.Met165Arg) http://identifiers.org/clinvar/393 ^@ GM2A, 1-BP DEL, 410A http://identifiers.org/clinvar/475 ^@ NM_000035.3(ALDOB):c.442T>C (p.Trp148Arg) http://identifiers.org/clinvar/553 ^@ NM_000140.3(FECH):c.1137+3A>G http://identifiers.org/clinvar/562 ^@ NM_000140.3(FECH):c.315-48T>C http://identifiers.org/clinvar/666 ^@ NM_000312.3(PROC):c.1000G>A (p.Gly334Ser) http://identifiers.org/clinvar/698 ^@ NM_000512.4(GALNS):c.612C>G (p.Asn204Lys) http://identifiers.org/clinvar/739 ^@ NM_203395.2(IYD):c.347T>C (p.Ile116Thr) http://identifiers.org/clinvar/748 ^@ NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) http://identifiers.org/clinvar/838 ^@ APC, 1-BP DEL, 3720T http://identifiers.org/clinvar/2089 ^@ NM_000159.3(GCDH):c.680G>C (p.Arg227Pro) http://identifiers.org/clinvar/2134 ^@ NM_024514.4(CYP2R1):c.296T>C (p.Leu99Pro) http://identifiers.org/clinvar/2181 ^@ ROBO3, IVS13, G-A, +1 http://identifiers.org/clinvar/2226 ^@ NM_000551.3(VHL):c.191G>C (p.Arg64Pro) http://identifiers.org/clinvar/2271 ^@ NM_014874.3(MFN2):c.839G>A (p.Arg280His) http://identifiers.org/clinvar/2317 ^@ NM_014297.4(ETHE1):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/2362 ^@ NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly) http://identifiers.org/clinvar/2408 ^@ NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro) http://identifiers.org/clinvar/2453 ^@ NM_000434.3(NEU1):c.718T>C (p.Trp240Arg) http://identifiers.org/clinvar/2547 ^@ NM_000243.2(MEFV):c.2084A>G (p.Lys695Arg) http://identifiers.org/clinvar/2593 ^@ NM_000126.3(ETFA):c.470T>G (p.Val157Gly) http://identifiers.org/clinvar/2639 ^@ NPHP3, IVS13DS, G-A, +5 http://identifiers.org/clinvar/2684 ^@ NM_031443.3(CCM2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/2730 ^@ NM_004183.3(BEST1):c.87C>G (p.Tyr29Ter) http://identifiers.org/clinvar/2776 ^@ NM_000158.3(GBE1):c.783-1G>A http://identifiers.org/clinvar/2820 ^@ NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter) http://identifiers.org/clinvar/2866 ^@ NM_001171507.2(MCFD2):c.309+1G>A http://identifiers.org/clinvar/2911 ^@ NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) http://identifiers.org/clinvar/2957 ^@ NM_000271.4(NPC1):c.2783A>C (p.Gln928Pro) http://identifiers.org/clinvar/3001 ^@ NM_000226.3(KRT9):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/3050 ^@ NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) http://identifiers.org/clinvar/3097 ^@ MMAB, 5-BP DEL, NT572 http://identifiers.org/clinvar/3150 ^@ NM_000218.2(KCNQ1):c.728G>C (p.Arg243Pro) http://identifiers.org/clinvar/3197 ^@ NM_016038.3(SBDS):c.24C>A (p.Asn8Lys) http://identifiers.org/clinvar/3243 ^@ NM_007171.3(POMT1):c.598G>C (p.Ala200Pro) http://identifiers.org/clinvar/13074 ^@ NM_000321.2(RB1):c.2244delG (p.Glu748Aspfs) http://identifiers.org/clinvar/13125 ^@ REN, 3-BP DEL, 45GCT http://identifiers.org/clinvar/13176 ^@ NM_000322.4(PRPH2):c.947G>A (p.Trp316Ter) http://identifiers.org/clinvar/13227 ^@ NM_000055.3(BCHE):c.467A>G (p.Tyr156Cys) http://identifiers.org/clinvar/13278 ^@ NM_000141.4(FGFR2):c.1115C>G (p.Ser372Cys) http://identifiers.org/clinvar/13535 ^@ NM_001001547.2(CD36):c.268C>T (p.Pro90Ser) http://identifiers.org/clinvar/36648 ^@ NM_000258.2(MYL3):c.530A>G (p.Glu177Gly) http://identifiers.org/clinvar/36701 ^@ NM_006261.4(PROP1):c.359G>A (p.Arg120His) http://identifiers.org/clinvar/36753 ^@ NM_001165963.1(SCN1A):c.3199G>A (p.Ala1067Thr) http://identifiers.org/clinvar/36804 ^@ NM_000545.6(HNF1A):c.150C>T (p.Cys50=) http://identifiers.org/clinvar/36854 ^@ NM_000458.3(HNF1B):c.949G>T (p.Ala317Ser) http://identifiers.org/clinvar/36905 ^@ NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) http://identifiers.org/clinvar/36981 ^@ NM_001277115.1(DNAH11):c.8698C>T (p.Arg2900Ter) http://identifiers.org/clinvar/40692 ^@ NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) http://identifiers.org/clinvar/40780 ^@ NM_002755.3(MAP2K1):c.179T>G (p.Val60Gly) http://identifiers.org/clinvar/40980 ^@ NM_000084.4(CLCN5):c.1020C>A (p.Asn340Lys) http://identifiers.org/clinvar/41036 ^@ NM_000748.2(CHRNB2):c.936C>G (p.Ile312Met) http://identifiers.org/clinvar/41094 ^@ NM_003611.2(OFD1):c.221C>T (p.Ser74Phe) http://identifiers.org/clinvar/41150 ^@ NM_003611.2(OFD1):c.843_844delAA (p.Glu281Aspfs) http://identifiers.org/clinvar/41201 ^@ NM_003977.3(AIP):c.721A>T (p.Lys241Ter) http://identifiers.org/clinvar/51415 ^@ NM_000059.3(BRCA2):c.317-22C>T http://identifiers.org/clinvar/51467 ^@ NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val) http://identifiers.org/clinvar/51518 ^@ NM_000059.3(BRCA2):c.3763G>T (p.Val1255Leu) http://identifiers.org/clinvar/51569 ^@ NM_000059.3(BRCA2):c.3939C>A (p.Tyr1313Ter) http://identifiers.org/clinvar/51620 ^@ NM_000059.3(BRCA2):c.426-17G>A http://identifiers.org/clinvar/51672 ^@ NM_000059.3(BRCA2):c.4556delC (p.Pro1519Leufs) http://identifiers.org/clinvar/51724 ^@ NM_000059.3(BRCA2):c.4840A>G (p.Lys1614Glu) http://identifiers.org/clinvar/51775 ^@ NM_000059.3(BRCA2):c.5130_5133delTGTA (p.Tyr1710Terfs) http://identifiers.org/clinvar/51826 ^@ NM_000059.3(BRCA2):c.5224_5229delAACAGT (p.Asn1742_Ser1743del) http://identifiers.org/clinvar/51880 ^@ NM_000059.3(BRCA2):c.5569G>T (p.Glu1857Ter) http://identifiers.org/clinvar/51932 ^@ NM_000059.3(BRCA2):c.5771_5774delTTCA (p.Ile1924Argfs) http://identifiers.org/clinvar/51983 ^@ NM_000059.3(BRCA2):c.5992C>T (p.Gln1998Ter) http://identifiers.org/clinvar/52034 ^@ NM_000059.3(BRCA2):c.6212G>T (p.Ser2071Ile) http://identifiers.org/clinvar/52087 ^@ NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) http://identifiers.org/clinvar/52139 ^@ NM_000059.3(BRCA2):c.6633T>C (p.Val2211=) http://identifiers.org/clinvar/52190 ^@ NM_000059.3(BRCA2):c.6800C>A (p.Ser2267Ter) http://identifiers.org/clinvar/52241 ^@ NM_000059.3(BRCA2):c.7007G>C (p.Arg2336Pro) http://identifiers.org/clinvar/52292 ^@ NM_000059.3(BRCA2):c.7224_7227delACCT (p.Pro2409Leufs) http://identifiers.org/clinvar/52342 ^@ NM_000059.3(BRCA2):c.7484T>C (p.Ile2495Thr) http://identifiers.org/clinvar/52392 ^@ NM_000059.3(BRCA2):c.7712A>G (p.Glu2571Gly) http://identifiers.org/clinvar/52443 ^@ NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro) http://identifiers.org/clinvar/52493 ^@ NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) http://identifiers.org/clinvar/52543 ^@ NM_000059.3(BRCA2):c.8314G>T (p.Glu2772Ter) http://identifiers.org/clinvar/52594 ^@ NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) http://identifiers.org/clinvar/52645 ^@ NM_000059.3(BRCA2):c.8633_8754del122 (p.Glu2878Glyfs) http://identifiers.org/clinvar/52696 ^@ NM_000059.3(BRCA2):c.8893G>C (p.Asp2965His) http://identifiers.org/clinvar/52747 ^@ NM_000059.3(BRCA2):c.9098_9099insA (p.Gln3034Serfs) http://identifiers.org/clinvar/52798 ^@ NM_000059.3(BRCA2):c.9271G>A (p.Val3091Ile) http://identifiers.org/clinvar/54261 ^@ NM_007294.3(BRCA1):c.1465G>A (p.Glu489Lys) http://identifiers.org/clinvar/54312 ^@ NM_007294.3(BRCA1):c.1623dupG (p.Asn542Glufs) http://identifiers.org/clinvar/54362 ^@ NM_007294.3(BRCA1):c.1823delA (p.Lys608Argfs) http://identifiers.org/clinvar/54413 ^@ NM_007294.3(BRCA1):c.1958_1961delAAAA (p.Lys653Serfs) http://identifiers.org/clinvar/54463 ^@ NM_007294.3(BRCA1):c.211dupA (p.Arg71Lysfs) http://identifiers.org/clinvar/54513 ^@ NM_007294.3(BRCA1):c.2248_2252delCTCAT (p.Leu750Valfs) http://identifiers.org/clinvar/54563 ^@ NM_007294.3(BRCA1):c.2416G>A (p.Ala806Thr) http://identifiers.org/clinvar/54613 ^@ NM_007294.3(BRCA1):c.2597G>A (p.Arg866His) http://identifiers.org/clinvar/54663 ^@ NM_007294.3(BRCA1):c.2728delC (p.Gln910Lysfs) http://identifiers.org/clinvar/54713 ^@ NM_007294.3(BRCA1):c.2910delA (p.Lys970Asnfs) http://identifiers.org/clinvar/54763 ^@ NM_007294.3(BRCA1):c.3048_3052dupTGAGA (p.Asn1018Metfs) http://identifiers.org/clinvar/54813 ^@ NM_007294.3(BRCA1):c.3262delG (p.Val1088Phefs) http://identifiers.org/clinvar/54863 ^@ NM_007294.3(BRCA1):c.3377delC (p.Pro1126Hisfs) http://identifiers.org/clinvar/54913 ^@ NM_007294.3(BRCA1):c.3544C>T (p.Gln1182Ter) http://identifiers.org/clinvar/54965 ^@ NM_007294.3(BRCA1):c.3699delA (p.Val1234Terfs) http://identifiers.org/clinvar/55016 ^@ NM_007294.3(BRCA1):c.3820delG (p.Val1274Terfs) http://identifiers.org/clinvar/55066 ^@ NM_007294.3(BRCA1):c.3973delA (p.Arg1325Glyfs) http://identifiers.org/clinvar/55117 ^@ NM_007294.3(BRCA1):c.4165_4166delAG (p.Ser1389Terfs) http://identifiers.org/clinvar/55168 ^@ NM_007294.3(BRCA1):c.4321dupG (p.Asp1441Glyfs) http://identifiers.org/clinvar/55219 ^@ NM_007294.3(BRCA1):c.4508C>A (p.Ser1503Ter) http://identifiers.org/clinvar/55269 ^@ NM_007294.3(BRCA1):c.4712_4716delTCTCT (p.Phe1571Terfs) http://identifiers.org/clinvar/55320 ^@ NM_007294.3(BRCA1):c.4934G>T (p.Arg1645Met) http://identifiers.org/clinvar/55370 ^@ NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) http://identifiers.org/clinvar/55420 ^@ NM_007294.3(BRCA1):c.514C>T (p.Gln172Ter) http://identifiers.org/clinvar/55470 ^@ NM_007294.3(BRCA1):c.5230delA (p.Arg1744Glufs) http://identifiers.org/clinvar/55523 ^@ NM_007294.3(BRCA1):c.5319dupC (p.Asn1774Glnfs) http://identifiers.org/clinvar/55573 ^@ NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe) http://identifiers.org/clinvar/56336 ^@ NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe) http://identifiers.org/clinvar/56387 ^@ NM_002299.3(LCT):c.1692_1696delAGTGG (p.Val565Leufs) http://identifiers.org/clinvar/56438 ^@ NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) http://identifiers.org/clinvar/56488 ^@ NM_004646.3(NPHS1):c.2815+5G>A http://identifiers.org/clinvar/56539 ^@ NM_006493.2(CLN5):c.575A>G (p.Asn192Ser) http://identifiers.org/clinvar/56592 ^@ NM_017739.3(POMGNT1):c.1895+1G>A http://identifiers.org/clinvar/56647 ^@ NM_017890.4(VPS13B):c.1269_1273delATTGT (p.Cys425Glyfs) http://identifiers.org/clinvar/56697 ^@ NM_017890.4(VPS13B):c.8697-9A>G http://identifiers.org/clinvar/57007 ^@ GRCh38/hg38 Xq11.1-11.2(chrX:63514988-64270642)x3 http://identifiers.org/clinvar/57059 ^@ GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 http://identifiers.org/clinvar/57116 ^@ GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 http://identifiers.org/clinvar/57167 ^@ GRCh38/hg38 6p25.3(chr6:259528-439290)x1 http://identifiers.org/clinvar/57219 ^@ GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 http://identifiers.org/clinvar/57272 ^@ GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 http://identifiers.org/clinvar/57324 ^@ GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 http://identifiers.org/clinvar/57378 ^@ GRCh38/hg38 10q22.3-23.1(chr10:79882162-80327290)x1 http://identifiers.org/clinvar/101195 ^@ NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) http://identifiers.org/clinvar/101245 ^@ NM_000090.3(COL3A1):c.2285G>T (p.Gly762Val) http://identifiers.org/clinvar/101295 ^@ NM_000090.3(COL3A1):c.746G>T (p.Gly249Val) http://identifiers.org/clinvar/101345 ^@ NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp) http://identifiers.org/clinvar/101395 ^@ NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) http://identifiers.org/clinvar/101445 ^@ NM_000090.3(COL3A1):c.1105_1107delGGA (p.Gly369del) http://identifiers.org/clinvar/101495 ^@ NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del) http://identifiers.org/clinvar/102452 ^@ NM_001320371.1(ZNF582):c.286T>G (p.Trp96Gly) http://identifiers.org/clinvar/102509 ^@ NM_000277.1(PAH):c.1066-1G>A http://identifiers.org/clinvar/102566 ^@ NM_000277.1(PAH):c.1204T>C (p.Phe402Leu) http://identifiers.org/clinvar/102618 ^@ NM_000277.1(PAH):c.183C>G (p.Asn61Lys) http://identifiers.org/clinvar/102672 ^@ NM_000277.1(PAH):c.441+3G>C http://identifiers.org/clinvar/102723 ^@ NM_000277.1(PAH):c.526C>T (p.Arg176Ter) http://identifiers.org/clinvar/102773 ^@ NM_000277.1(PAH):c.653G>T (p.Gly218Val) http://identifiers.org/clinvar/102824 ^@ NM_000277.1(PAH):c.755G>A (p.Arg252Gln) http://identifiers.org/clinvar/102876 ^@ NM_000277.1(PAH):c.847A>T (p.Ile283Phe) http://identifiers.org/clinvar/102926 ^@ NM_000277.1(PAH):c.992T>G (p.Phe331Cys) http://identifiers.org/clinvar/102984 ^@ NM_176811.2(NLRP8):c.-206G>A http://identifiers.org/clinvar/103034 ^@ NM_001079821.2(NLRP3):c.-39+51G>A http://identifiers.org/clinvar/103084 ^@ NM_001199138.1(NLRC4):c.297C>T (p.Asp99=) http://identifiers.org/clinvar/103134 ^@ NM_024618.3(NLRX1):c.1608A>C (p.Val536=) http://identifiers.org/clinvar/103184 ^@ NM_032206.4(NLRC5):c.3596+42T>A http://identifiers.org/clinvar/103234 ^@ NM_138329.2(NLRP6):c.2063_2065delAGA (p.Lys688del) http://identifiers.org/clinvar/103284 ^@ NM_153447.4(NLRP5):c.2447+157G>A http://identifiers.org/clinvar/103334 ^@ NM_176821.3(NLRP10):c.1410G>A (p.Gln470=) http://identifiers.org/clinvar/111208 ^@ NM_000416.2(IFNGR1):c.1034A>G (p.His345Arg) http://identifiers.org/clinvar/160802 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 http://identifiers.org/clinvar/160853 ^@ GRCh38/hg38 4q35.2(chr4:187589886-188115140)x3 http://identifiers.org/clinvar/161498 ^@ NM_001025231.1(KPRP):c.825T>A (p.Phe275Leu) http://identifiers.org/clinvar/161748 ^@ NM_021189.4(CADM3):c.484G>C (p.Gly162Arg) http://identifiers.org/clinvar/161698 ^@ NM_015938.4(NMD3):c.503C>T (p.Thr168Ile) http://identifiers.org/clinvar/161648 ^@ NM_006587.3(CORIN):c.1400C>G (p.Pro467Arg) http://identifiers.org/clinvar/161598 ^@ NM_002485.4(NBN):c.244A>G (p.Lys82Glu) http://identifiers.org/clinvar/161548 ^@ NM_001167856.2(SBNO1):c.132+4A>C http://identifiers.org/clinvar/161798 ^@ NM_080817.4(GPR82):c.482G>T (p.Gly161Val) http://identifiers.org/clinvar/161848 ^@ NM_183353.2(RLIM):c.260delA (p.Asp87Alafs) http://identifiers.org/clinvar/162020 ^@ NM_012203.1(GRHPR):c.864_865delTG (p.Val289Aspfs) http://identifiers.org/clinvar/162082 ^@ NM_002887.3(RARS):c.96_97delTG (p.Cys32Trpfs) http://identifiers.org/clinvar/162139 ^@ GRCh38/hg38 Xq21.31(chrX:91959316-91991062)x1 http://identifiers.org/clinvar/162207 ^@ NM_006701.4(TXNL4A):c.258_429del172 (p.Asn87Alafs) http://identifiers.org/clinvar/162411 ^@ NM_170707.3(LMNA):c.1771T>A (p.Cys591Ser) http://identifiers.org/clinvar/162492 ^@ NG_016165.1:g.(170_?)_(?_2014)del1.8kb http://identifiers.org/clinvar/162566 ^@ NM_001079802.1(FKTN):c.25G>T (p.Val9Phe) http://identifiers.org/clinvar/162668 ^@ NM_015910.5(WDPCP):c.552_553delAT (p.Cys185Phefs) http://identifiers.org/clinvar/179767 ^@ NM_001103.3(ACTN2):c.1899T>G (p.His633Gln) http://identifiers.org/clinvar/162818 ^@ NM_001232.3(CASQ2):c.376G>C (p.Asp126His) http://identifiers.org/clinvar/179317 ^@ NM_004700.3(KCNQ4):c.699G>C (p.Ala233=) http://identifiers.org/clinvar/163752 ^@ NM_004700.3(KCNQ4):c.1263G>A (p.Pro421=) http://identifiers.org/clinvar/178648 ^@ NM_206933.2(USH2A):c.8458G>A (p.Val2820Ile) http://identifiers.org/clinvar/167815 ^@ NM_206933.2(USH2A):c.6317C= (p.Thr2106=) http://identifiers.org/clinvar/179667 ^@ NM_133378.4(TTN):c.58645G>A (p.Ala19549Thr) http://identifiers.org/clinvar/179517 ^@ NM_133378.4(TTN):c.97210G>A (p.Glu32404Lys) http://identifiers.org/clinvar/179417 ^@ NM_133378.4(TTN):c.79095_79098delAAAG (p.Gly26368Terfs) http://identifiers.org/clinvar/179267 ^@ NM_133378.4(TTN):c.45298+9C>T http://identifiers.org/clinvar/179917 ^@ NM_001256850.1(TTN):c.20826T>A (p.Ile6942=) http://identifiers.org/clinvar/179167 ^@ NM_133378.4(TTN):c.9031A>G (p.Thr3011Ala) http://identifiers.org/clinvar/178867 ^@ NM_133378.4(TTN):c.9176A>T (p.Glu3059Val) http://identifiers.org/clinvar/179217 ^@ NM_194248.2(OTOF):c.1221C>T (p.Pro407=) http://identifiers.org/clinvar/179117 ^@ NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) http://identifiers.org/clinvar/163078 ^@ NM_005219.4(DIAPH1):c.390C>T (p.Tyr130=) http://identifiers.org/clinvar/178816 ^@ NM_024334.2(TMEM43):c.163-3delC http://identifiers.org/clinvar/178598 ^@ NM_006005.3(WFS1):c.2454C>T (p.Arg818=) http://identifiers.org/clinvar/163669 ^@ NM_032383.4(HPS3):c.2526C>T (p.His842=) http://identifiers.org/clinvar/166596 ^@ NM_006005.3(WFS1):c.1743C>T (p.Gly581=) http://identifiers.org/clinvar/179467 ^@ NM_004415.3(DSP):c.939+13dupC http://identifiers.org/clinvar/163283 ^@ NM_004415.3(DSP):c.6351T>C (p.Asp2117=) http://identifiers.org/clinvar/163128 ^@ NM_001277115.1(DNAH11):c.12969G>C (p.Gln4323His) http://identifiers.org/clinvar/179617 ^@ NM_000441.1(SLC26A4):c.1050G>A (p.Leu350=) http://identifiers.org/clinvar/198414 ^@ NM_000328.2(RPGR):c.642_656delTGGAGAACCTGAGAAinsC (p.Gly215Trpfs) http://identifiers.org/clinvar/198464 ^@ NM_001449.4(FHL1):c.689-13T>C http://identifiers.org/clinvar/198518 ^@ NM_004646.3(NPHS1):c.791C>G (p.Pro264Arg) http://identifiers.org/clinvar/198569 ^@ NM_017617.4(NOTCH1):c.1100-8C>T http://identifiers.org/clinvar/198621 ^@ NM_153026.2(PRICKLE1):c.1435G>A (p.Gly479Arg) http://identifiers.org/clinvar/198672 ^@ NM_033071.3(SYNE1):c.14556A>G (p.Glu4852=) http://identifiers.org/clinvar/198725 ^@ NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) http://identifiers.org/clinvar/198779 ^@ NM_002335.3(LRP5):c.1585-9G>A http://identifiers.org/clinvar/198831 ^@ NM_005609.3(PYGM):c.924C>T (p.Ile308=) http://identifiers.org/clinvar/198886 ^@ NM_015243.2(VPS13B):c.983A>G (p.His328Arg) http://identifiers.org/clinvar/198939 ^@ NM_207361.5(FREM2):c.6272C>T (p.Ala2091Val) http://identifiers.org/clinvar/198990 ^@ NM_001142564.1(CNGA1):c.657-6C>T http://identifiers.org/clinvar/199041 ^@ NM_000806.5(GABRA1):c.851T>C (p.Val284Ala) http://identifiers.org/clinvar/199094 ^@ NM_004453.3(ETFDH):c.1001T>C (p.Leu334Pro) http://identifiers.org/clinvar/199146 ^@ NM_018328.4(MBD5):c.2279A>G (p.His760Arg) http://identifiers.org/clinvar/199197 ^@ NM_182896.2(ARL13B):c.1186C>G (p.Pro396Ala) http://identifiers.org/clinvar/199252 ^@ NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser) http://identifiers.org/clinvar/201407 ^@ NM_001035.2(RYR2):c.6957_6959delCGT (p.Val2321del) http://identifiers.org/clinvar/199701 ^@ NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) http://identifiers.org/clinvar/201573 ^@ NM_198056.2(SCN5A):c.5464_5467delTCTG (p.Glu1823Hisfs) http://identifiers.org/clinvar/201516 ^@ NM_198056.2(SCN5A):c.4424A>T (p.Gln1475Leu) http://identifiers.org/clinvar/201461 ^@ NM_198056.2(SCN5A):c.1820G>T (p.Gly607Val) http://identifiers.org/clinvar/199862 ^@ NM_004415.3(DSP):c.1513G>T (p.Val505Phe) http://identifiers.org/clinvar/199921 ^@ NM_004415.3(DSP):c.3733delG (p.Glu1245Lysfs) http://identifiers.org/clinvar/200089 ^@ NM_000138.4(FBN1):c.6628T>C (p.Cys2210Arg) http://identifiers.org/clinvar/200035 ^@ NM_000138.4(FBN1):c.4094A>G (p.Asp1365Gly) http://identifiers.org/clinvar/199980 ^@ NM_000138.4(FBN1):c.2055C>A (p.Cys685Ter) http://identifiers.org/clinvar/199755 ^@ NM_024422.4(DSC2):c.631-13dupA http://identifiers.org/clinvar/199811 ^@ NM_001943.4(DSG2):c.1795T>C (p.Cys599Arg) http://identifiers.org/clinvar/201633 ^@ NM_001103.3(ACTN2):c.784-2A>G http://identifiers.org/clinvar/202136 ^@ NM_024334.2(TMEM43):c.62C>T (p.Ser21Phe) http://identifiers.org/clinvar/202079 ^@ NM_001134363.2(RBM20):c.304C>T (p.Arg102Trp) http://identifiers.org/clinvar/201908 ^@ NM_006393.2(NEBL):c.1540G>T (p.Ala514Ser) http://identifiers.org/clinvar/202020 ^@ NM_004572.3(PKP2):c.1799delA (p.Asp600Valfs) http://identifiers.org/clinvar/201961 ^@ NM_004572.3(PKP2):c.611G>A (p.Arg204His) http://identifiers.org/clinvar/201799 ^@ NM_020433.4(JPH2):c.856A>G (p.Thr286Ala) http://identifiers.org/clinvar/202191 ^@ NM_000404.3(GLB1):c.1572dupG (p.Trp527Leufs) http://identifiers.org/clinvar/203085 ^@ NM_001256850.1(TTN):c.99682G>A (p.Glu33228Lys) http://identifiers.org/clinvar/202420 ^@ NM_001256850.1(TTN):c.81551T>G (p.Leu27184Ter) http://identifiers.org/clinvar/202474 ^@ NM_001256850.1(TTN):c.74883_74886delTGTT (p.Ile24961Metfs) http://identifiers.org/clinvar/202835 ^@ NM_001256850.1(TTN):c.66866A>T (p.Lys22289Ile) http://identifiers.org/clinvar/232753 ^@ NM_005732.3(RAD50):c.1742A>G (p.His581Arg) http://identifiers.org/clinvar/233053 ^@ NM_005732.3(RAD50):c.2157A>T (p.Leu719=) http://identifiers.org/clinvar/233203 ^@ NM_004168.3(SDHA):c.407A>T (p.Gln136Leu) http://identifiers.org/clinvar/233856 ^@ NM_000535.6(PMS2):c.2281G>C (p.Val761Leu) http://identifiers.org/clinvar/230113 ^@ NM_000535.6(PMS2):c.706-4T>C http://identifiers.org/clinvar/233653 ^@ NM_000535.6(PMS2):c.629A>C (p.Lys210Thr) http://identifiers.org/clinvar/233103 ^@ NM_000535.6(PMS2):c.514G>A (p.Glu172Lys) http://identifiers.org/clinvar/230513 ^@ NM_002485.4(NBN):c.1849G>A (p.Glu617Lys) http://identifiers.org/clinvar/233253 ^@ NM_002485.4(NBN):c.1040C>G (p.Ser347Ter) http://identifiers.org/clinvar/230463 ^@ NM_002485.4(NBN):c.83G>A (p.Arg28Lys) http://identifiers.org/clinvar/233503 ^@ NM_000077.4(CDKN2A):c.340_343dupCCCG (p.Val115Alafs) http://identifiers.org/clinvar/231113 ^@ NM_004329.2(BMPR1A):c.49A>C (p.Ile17Leu) http://identifiers.org/clinvar/233153 ^@ NM_000051.3(ATM):c.672G>C (p.Lys224Asn) http://identifiers.org/clinvar/233755 ^@ NM_000051.3(ATM):c.1372T>C (p.Cys458Arg) http://identifiers.org/clinvar/233553 ^@ NM_000051.3(ATM):c.1396C>T (p.Gln466Ter) http://identifiers.org/clinvar/230163 ^@ NM_000051.3(ATM):c.3003A>C (p.Leu1001=) http://identifiers.org/clinvar/233353 ^@ NM_000051.3(ATM):c.4842_4843insCT (p.Lys1615Leufs) http://identifiers.org/clinvar/230413 ^@ NM_000051.3(ATM):c.5595T>C (p.His1865=) http://identifiers.org/clinvar/233603 ^@ NM_000051.3(ATM):c.5876A>G (p.Glu1959Gly) http://identifiers.org/clinvar/232903 ^@ NM_000051.3(ATM):c.6062G>A (p.Cys2021Tyr) http://identifiers.org/clinvar/233805 ^@ NM_000051.3(ATM):c.6612G>A (p.Lys2204=) http://identifiers.org/clinvar/231363 ^@ NM_000051.3(ATM):c.7370A>C (p.Glu2457Ala) http://identifiers.org/clinvar/230763 ^@ NM_000051.3(ATM):c.8833C>T (p.Leu2945=) http://identifiers.org/clinvar/233403 ^@ NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) http://identifiers.org/clinvar/231163 ^@ NM_000059.3(BRCA2):c.6238T>G (p.Leu2080Val) http://identifiers.org/clinvar/231763 ^@ NM_000059.3(BRCA2):c.7708A>G (p.Lys2570Glu) http://identifiers.org/clinvar/231213 ^@ NM_000059.3(BRCA2):c.8488-5T>C http://identifiers.org/clinvar/230213 ^@ NM_000059.3(BRCA2):c.9209C>G (p.Ser3070Cys) http://identifiers.org/clinvar/232803 ^@ NM_024675.3(PALB2):c.2325dupA (p.Phe776Ilefs) http://identifiers.org/clinvar/231263 ^@ NM_024675.3(PALB2):c.1918T>A (p.Ser640Thr) http://identifiers.org/clinvar/230863 ^@ NM_024675.3(PALB2):c.826C>T (p.His276Tyr) http://identifiers.org/clinvar/232853 ^@ NM_001042492.2(NF1):c.693T>C (p.Phe231=) http://identifiers.org/clinvar/231063 ^@ NM_001042492.2(NF1):c.862G>A (p.Val288Met) http://identifiers.org/clinvar/232953 ^@ NM_001042492.2(NF1):c.7332A>T (p.Thr2444=) http://identifiers.org/clinvar/231313 ^@ NM_001042492.2(NF1):c.8064G>A (p.Val2688=) http://identifiers.org/clinvar/232653 ^@ NM_007294.3(BRCA1):c.3583C>T (p.His1195Tyr) http://identifiers.org/clinvar/230563 ^@ NM_007294.3(BRCA1):c.1031C>T (p.Ala344Val) http://identifiers.org/clinvar/231713 ^@ NM_007294.3(BRCA1):c.352C>G (p.Leu118Val) http://identifiers.org/clinvar/230813 ^@ NM_058216.2(RAD51C):c.397C>G (p.Gln133Glu) http://identifiers.org/clinvar/230913 ^@ NM_032043.2(BRIP1):c.3667C>T (p.Leu1223=) http://identifiers.org/clinvar/233003 ^@ NM_032043.2(BRIP1):c.886G>C (p.Glu296Gln) http://identifiers.org/clinvar/233303 ^@ NM_000546.5(TP53):c.797G>T (p.Gly266Val) http://identifiers.org/clinvar/230663 ^@ NM_005359.5(SMAD4):c.931C>T (p.Gln311Ter) http://identifiers.org/clinvar/234933 ^@ NM_001302946.1(TRNT1):c.1192delA (p.Ser398Valfs) http://identifiers.org/clinvar/235418 ^@ NC_012920.1:m.7175T>C http://identifiers.org/clinvar/235474 ^@ NM_015102.4(NPHP4):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/235527 ^@ NM_001770.5(CD19):c.835+3A>G http://identifiers.org/clinvar/235578 ^@ NM_015559.2(SETBP1):c.3299A>G (p.His1100Arg) http://identifiers.org/clinvar/235628 ^@ NM_001278064.1(GRM1):c.3178A>G (p.Asn1060Asp) http://identifiers.org/clinvar/235682 ^@ NM_000287.3(PEX6):c.2770G>T (p.Ala924Ser) http://identifiers.org/clinvar/235744 ^@ NM_003172.3(SURF1):c.350A>C (p.Tyr117Ser) http://identifiers.org/clinvar/235890 ^@ NM_025137.3(SPG11):c.6899T>C (p.Leu2300Pro) http://identifiers.org/clinvar/236102 ^@ NM_000350.2(ABCA4):c.3482G>A (p.Arg1161His) http://identifiers.org/clinvar/236152 ^@ NM_004621.5(TRPC6):c.2645-8T>C http://identifiers.org/clinvar/236210 ^@ NM_006734.3(HIVEP2):c.5737delG (p.Asp1913Metfs) http://identifiers.org/clinvar/236290 ^@ NM_198578.3(LRRK2):c.2314C>T (p.Arg772Ter) http://identifiers.org/clinvar/236341 ^@ NC_000002.10:g.50862736_51080758del218023 http://identifiers.org/clinvar/236391 ^@ NC_000020.10:g.14798976_15007351del208376 http://identifiers.org/clinvar/236542 ^@ NM_206933.2(USH2A):c.6326-1G>A http://identifiers.org/clinvar/236492 ^@ NM_001030311.2(CERKL):c.193G>T (p.Glu65Ter) http://identifiers.org/clinvar/236442 ^@ NM_001142564.1(CNGA1):c.848A>T (p.Asp283Val) http://identifiers.org/clinvar/238238 ^@ NM_001035.2(RYR2):c.6134A>G (p.Glu2045Gly) http://identifiers.org/clinvar/241032 ^@ NM_015284.3(SZT2):c.3298C>T (p.Pro1100Ser) http://identifiers.org/clinvar/238338 ^@ NM_001128425.1(MUTYH):c.1476G>C (p.Lys492Asn) http://identifiers.org/clinvar/238688 ^@ NM_001267550.2(TTN):c.100446dupA (p.Glu33483Argfs) http://identifiers.org/clinvar/238838 ^@ NM_001267550.2(TTN):c.73026C>T (p.Ile24342=) http://identifiers.org/clinvar/238788 ^@ NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met) http://identifiers.org/clinvar/238738 ^@ NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) http://identifiers.org/clinvar/237738 ^@ NM_000384.2(APOB):c.12794T>C (p.Val4265Ala) http://identifiers.org/clinvar/237838 ^@ NM_000465.3(BARD1):c.542A>G (p.Glu181Gly) http://identifiers.org/clinvar/240982 ^@ NM_015120.4(ALMS1):c.12288G>A (p.Pro4096=) http://identifiers.org/clinvar/241732 ^@ NM_033084.4(FANCD2):c.1440T>C (p.His480=) http://identifiers.org/clinvar/240682 ^@ NM_006514.3(SCN10A):c.5705A>C (p.Asn1902Thr) http://identifiers.org/clinvar/238588 ^@ NM_001148.4(ANK2):c.7117A>G (p.Thr2373Ala) http://identifiers.org/clinvar/236642 ^@ NM_000038.5(APC):c.71G>A (p.Arg24Gln) http://identifiers.org/clinvar/236592 ^@ NM_000038.5(APC):c.3468A>G (p.Glu1156=) http://identifiers.org/clinvar/238988 ^@ NM_001369.2(DNAH5):c.841G>A (p.Val281Ile) http://identifiers.org/clinvar/241432 ^@ NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) http://identifiers.org/clinvar/238638 ^@ NM_001206927.1(DNAH8):c.14059C>T (p.Arg4687Ter) http://identifiers.org/clinvar/238938 ^@ NM_001277115.1(DNAH11):c.8991G>T (p.Arg2997=) http://identifiers.org/clinvar/238888 ^@ NM_001277115.1(DNAH11):c.10391C>T (p.Thr3464Ile) http://identifiers.org/clinvar/240932 ^@ NM_014855.2(AP5Z1):c.1009C>T (p.Arg337Trp) http://identifiers.org/clinvar/237888 ^@ NM_000535.6(PMS2):c.1540C>T (p.His514Tyr) http://identifiers.org/clinvar/257991 ^@ NM_001369.2(DNAH5):c.12279+48T>A http://identifiers.org/clinvar/258041 ^@ NM_001369.2(DNAH5):c.5115-49G>C http://identifiers.org/clinvar/255402 ^@ NM_000163.4(GHR):c.1098A>G (p.Leu366=) http://identifiers.org/clinvar/257052 ^@ NM_001010892.2(RSPH4A):c.675G>T (p.Ser225=) http://identifiers.org/clinvar/256052 ^@ NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) http://identifiers.org/clinvar/256302 ^@ NM_000500.7(CYP21A2):c.939+10G>A http://identifiers.org/clinvar/258341 ^@ NM_001851.4(COL9A1):c.1230+12T>C http://identifiers.org/clinvar/256252 ^@ NM_000492.3(CFTR):c.2424T>C (p.Tyr808=) http://identifiers.org/clinvar/258141 ^@ NM_001458.4(FLNC):c.3721C>T (p.Arg1241Cys) http://identifiers.org/clinvar/257891 ^@ NM_001277115.1(DNAH11):c.4215C>T (p.Leu1405=) http://identifiers.org/clinvar/257941 ^@ NM_001277115.1(DNAH11):c.9598-16G>A http://identifiers.org/clinvar/257841 ^@ NM_001277115.1(DNAH11):c.*16C>T http://identifiers.org/clinvar/258991 ^@ NM_003235.4(TG):c.3139+9G>A http://identifiers.org/clinvar/262741 ^@ NM_153704.5(TMEM67):c.120T>C (p.Ser40=) http://identifiers.org/clinvar/255452 ^@ NM_000170.2(GLDC):c.*7G>C http://identifiers.org/clinvar/262841 ^@ NM_173551.4(ANKS6):c.1458T>C (p.Pro486=) http://identifiers.org/clinvar/256102 ^@ NM_000429.2(MAT1A):c.1005C>T (p.Tyr335=) http://identifiers.org/clinvar/256852 ^@ NM_001002295.1(GATA3):c.1257G>A (p.Thr419=) http://identifiers.org/clinvar/255502 ^@ NM_000195.4(HPS1):c.1599-7C>A http://identifiers.org/clinvar/258641 ^@ NM_002335.3(LRP5):c.4788C>T (p.Thr1596=) http://identifiers.org/clinvar/258191 ^@ NM_001814.5(CTSC):c.757+37T>C http://identifiers.org/clinvar/258091 ^@ NM_001414.3(EIF2B1):c.483-22G>T http://identifiers.org/clinvar/258241 ^@ NM_001844.4(COL2A1):c.532-27T>A http://identifiers.org/clinvar/256702 ^@ NM_000552.4(VWF):c.8113G>A (p.Gly2705Arg) http://identifiers.org/clinvar/256652 ^@ NM_000552.4(VWF):c.1411G>A (p.Val471Ile) http://identifiers.org/clinvar/260131 ^@ NM_007129.3(ZIC2):c.213G>A (p.Pro71=) http://identifiers.org/clinvar/258841 ^@ NM_002863.4(PYGL):c.2416A>T (p.Ile806Leu) http://identifiers.org/clinvar/257102 ^@ NM_001024858.2(SPTB):c.2154A>C (p.Ile718=) http://identifiers.org/clinvar/255952 ^@ NM_000369.2(TSHR):c.545+13A>G http://identifiers.org/clinvar/258591 ^@ NM_002225.3(IVD):c.697-31T>C http://identifiers.org/clinvar/255302 ^@ NM_000138.4(FBN1):c.5788+13_5788+14delAA http://identifiers.org/clinvar/335688 ^@ NM_004304.4(ALK):c.4433T>C (p.Met1478Thr) http://identifiers.org/clinvar/335138 ^@ NM_004369.3(COL6A3):c.1770T>C (p.Ala590=) http://identifiers.org/clinvar/335188 ^@ NM_004544.3(NDUFA10):c.*647C>T http://identifiers.org/clinvar/335438 ^@ NM_194248.2(OTOF):c.3749G>A (p.Arg1250His) http://identifiers.org/clinvar/335938 ^@ NM_000104.3(CYP1B1):c.*867dupG http://identifiers.org/clinvar/335988 ^@ NM_005633.3(SOS1):c.*1731A>G http://identifiers.org/clinvar/337334 ^@ NM_003896.3(ST3GAL5):c.1036G>A (p.Val346Ile) http://identifiers.org/clinvar/337634 ^@ NM_001079.3(ZAP70):c.1025T>C (p.Ile342Thr) http://identifiers.org/clinvar/342514 ^@ NM_198196.2(CD96):c.-121C>T http://identifiers.org/clinvar/342564 ^@ NM_198196.2(CD96):c.*841G>C http://identifiers.org/clinvar/337234 ^@ NM_000821.6(GGCX):c.*902T>C http://identifiers.org/clinvar/334638 ^@ NM_000092.4(COL4A4):c.*4583A>G http://identifiers.org/clinvar/334988 ^@ NM_000751.2(CHRND):c.*635C>T http://identifiers.org/clinvar/335038 ^@ NM_002242.4(KCNJ13):c.*1201C>T http://identifiers.org/clinvar/335088 ^@ NM_004369.3(COL6A3):c.*754T>A http://identifiers.org/clinvar/343014 ^@ NM_000373.3(UMPS):c.*3732C>T http://identifiers.org/clinvar/334888 ^@ NM_004509.3(SP110):c.*82G>A http://identifiers.org/clinvar/335288 ^@ NM_004321.7(KIF1A):c.-13G>A http://identifiers.org/clinvar/334938 ^@ NM_152383.4(DIS3L2):c.1425+13A>G http://identifiers.org/clinvar/335588 ^@ NM_001029883.2(C2orf71):c.*2279G>A http://identifiers.org/clinvar/342614 ^@ NM_020754.3(ARHGAP31):c.-443C>G http://identifiers.org/clinvar/335638 ^@ NM_001029883.2(C2orf71):c.3669-5G>A http://identifiers.org/clinvar/342664 ^@ NM_020754.3(ARHGAP31):c.2940A>G (p.Thr980=) http://identifiers.org/clinvar/343464 ^@ NM_000532.4(PCCB):c.553delA (p.Thr185Argfs) http://identifiers.org/clinvar/343614 ^@ NM_001184.3(ATR):c.2532+4G>A http://identifiers.org/clinvar/343664 ^@ NM_031850.3(AGTR1):c.-284C>G http://identifiers.org/clinvar/342914 ^@ NM_053025.3(MYLK):c.-185-5A>G http://identifiers.org/clinvar/335488 ^@ NM_000221.2(KHK):c.322C>T (p.Arg108Cys) http://identifiers.org/clinvar/335838 ^@ NM_014946.3(SPAST):c.*51A>G http://identifiers.org/clinvar/335538 ^@ NM_015636.3(EIF2B4):c.935T>C (p.Val312Ala) http://identifiers.org/clinvar/343164 ^@ NM_004637.5(RAB7A):c.*181G>A http://identifiers.org/clinvar/335738 ^@ NM_000379.3(XDH):c.*1452C>T http://identifiers.org/clinvar/343264 ^@ NM_052985.3(IFT122):c.3416A>G (p.Tyr1139Cys) http://identifiers.org/clinvar/335788 ^@ NM_000379.3(XDH):c.1274C>G (p.Ser425Cys) http://identifiers.org/clinvar/350643 ^@ NM_032446.2(MEGF10):c.780+9C>T http://identifiers.org/clinvar/350693 ^@ NM_032446.2(MEGF10):c.*1584G>A http://identifiers.org/clinvar/350793 ^@ NM_001999.3(FBN2):c.472A>T (p.Thr158Ser) http://identifiers.org/clinvar/350843 ^@ NM_014402.4(UQCRQ):c.*236C>T http://identifiers.org/clinvar/354869 ^@ NM_007214.4(SEC63):c.*1471A>G http://identifiers.org/clinvar/351043 ^@ NM_001369.2(DNAH5):c.10731C>A (p.Asn3577Lys) http://identifiers.org/clinvar/350993 ^@ NM_017415.2(KLHL3):c.756G>A (p.Thr252=) http://identifiers.org/clinvar/355370 ^@ NM_006208.2(ENPP1):c.*735A>G http://identifiers.org/clinvar/351243 ^@ NM_002109.5(HARS):c.-1G>A http://identifiers.org/clinvar/358819 ^@ NM_000230.2(LEP):c.280G>A (p.Val94Met) http://identifiers.org/clinvar/351543 ^@ NM_054027.4(ANKH):c.585C>T (p.Leu195=) http://identifiers.org/clinvar/358869 ^@ NM_000883.3(IMPDH1):c.*202C>T http://identifiers.org/clinvar/359119 ^@ NM_000083.2(CLCN1):c.2180C>T (p.Pro727Leu) http://identifiers.org/clinvar/359419 ^@ NM_022458.3(LMBR1):c.*36C>T http://identifiers.org/clinvar/352680 ^@ NM_001034850.2(RETREG1):c.*455dupT http://identifiers.org/clinvar/352630 ^@ NM_000816.3(GABRG2):c.-241A>C http://identifiers.org/clinvar/360608 ^@ NM_153033.4(KCTD7):c.*1727G>C http://identifiers.org/clinvar/352830 ^@ NM_001017995.2(SH3PXD2B):c.-40C>T http://identifiers.org/clinvar/353030 ^@ NM_017838.3(NHP2):c.-56A>C http://identifiers.org/clinvar/353180 ^@ NM_003900.4(SQSTM1):c.*1101G>A http://identifiers.org/clinvar/353080 ^@ NM_014244.4(ADAMTS2):c.*212A>C http://identifiers.org/clinvar/353130 ^@ NM_014244.4(ADAMTS2):c.786G>A (p.Ala262=) http://identifiers.org/clinvar/361158 ^@ NM_015713.4(RRM2B):c.*1596T>C http://identifiers.org/clinvar/353530 ^@ NM_002310.5(LIFR):c.*5768A>C http://identifiers.org/clinvar/353230 ^@ NM_014324.5(AMACR):c.*1643T>C http://identifiers.org/clinvar/361509 ^@ NM_014112.4(TRPS1):c.*5352T>G http://identifiers.org/clinvar/353430 ^@ NM_023073.3(C5orf42):c.7860G>A (p.Gln2620=) http://identifiers.org/clinvar/353480 ^@ NM_000514.3(GDNF):c.*2162G>T http://identifiers.org/clinvar/361818 ^@ NM_004519.3(KCNQ3):c.*3805C>T http://identifiers.org/clinvar/299910 ^@ NM_020975.4(RET):c.*453G>T http://identifiers.org/clinvar/363957 ^@ NM_018444.3(PDP1):c.*1091A>C http://identifiers.org/clinvar/364007 ^@ NM_001001557.3(GDF6):c.*2195C>T http://identifiers.org/clinvar/306504 ^@ NM_016156.5(MTMR2):c.*2014T>G http://identifiers.org/clinvar/300060 ^@ NM_000124.3(ERCC6):c.2697G>A (p.Thr899=) http://identifiers.org/clinvar/300160 ^@ NM_033056.3(PCDH15):c.*268_*269delTT http://identifiers.org/clinvar/364407 ^@ NM_005502.3(ABCA1):c.4024C>T (p.Arg1342Trp) http://identifiers.org/clinvar/364307 ^@ NM_000035.3(ALDOB):c.*12C>T http://identifiers.org/clinvar/300810 ^@ NM_014000.2(VCL):c.*1203A>C http://identifiers.org/clinvar/365396 ^@ NM_000368.4(TSC1):c.*4248C>T http://identifiers.org/clinvar/301799 ^@ NM_138413.3(HOGA1):c.*101C>T http://identifiers.org/clinvar/365846 ^@ NM_052813.4(CARD9):c.808-11G>T http://identifiers.org/clinvar/365947 ^@ NM_016219.4(MAN1B1):c.459G>A (p.Ser153=) http://identifiers.org/clinvar/298371 ^@ NM_004376.5(COX15):c.*3755G>A http://identifiers.org/clinvar/366297 ^@ NM_002451.3(MTAP):c.*2539A>G http://identifiers.org/clinvar/366397 ^@ NM_133497.3(KCNV2):c.-204A>C http://identifiers.org/clinvar/366047 ^@ NM_024757.4(EHMT1):c.*1025T>G http://identifiers.org/clinvar/302349 ^@ NM_002906.3(RDX):c.836G>T (p.Arg279Leu) http://identifiers.org/clinvar/302449 ^@ NM_001931.4(DLAT):c.-90G>C http://identifiers.org/clinvar/302599 ^@ NM_174934.3(SCN4B):c.*2324A>T http://identifiers.org/clinvar/366597 ^@ NM_175073.2(APTX):c.80T>C (p.Ile27Thr) http://identifiers.org/clinvar/302649 ^@ NM_174934.3(SCN4B):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/366697 ^@ NM_000155.3(GALT):c.450T>A (p.Val150=) http://identifiers.org/clinvar/366447 ^@ NM_000459.4(TEK):c.2976T>C (p.Tyr992=) http://identifiers.org/clinvar/366997 ^@ NM_203447.3(DOCK8):c.4148C>G (p.Ala1383Gly) http://identifiers.org/clinvar/366547 ^@ NM_203447.3(DOCK8):c.686C>A (p.Ala229Asp) http://identifiers.org/clinvar/367047 ^@ NM_004170.5(SLC1A1):c.633C>T (p.Asn211=) http://identifiers.org/clinvar/314336 ^@ NM_014239.3(EIF2B2):c.899-13G>A http://identifiers.org/clinvar/322021 ^@ NM_012452.2(TNFRSF13B):c.*226A>G http://identifiers.org/clinvar/322221 ^@ NM_000382.2(ALDH3A2):c.*292G>T http://identifiers.org/clinvar/340775 ^@ NM_017929.5(PEX26):c.*925A>G http://identifiers.org/clinvar/340875 ^@ NM_004782.3(SNAP29):c.*2111G>T http://identifiers.org/clinvar/322371 ^@ NM_080669.5(SLC46A1):c.*2513G>C http://identifiers.org/clinvar/340925 ^@ NM_016327.2(UPB1):c.-27G>C http://identifiers.org/clinvar/313286 ^@ NM_018139.2(DNAAF2):c.471C>T (p.His157=) http://identifiers.org/clinvar/313386 ^@ NM_000161.2(GCH1):c.*243C>T http://identifiers.org/clinvar/313636 ^@ NM_182914.2(SYNE2):c.18121A>G (p.Ile6041Val) http://identifiers.org/clinvar/313686 ^@ NM_182914.2(SYNE2):c.*662T>A http://identifiers.org/clinvar/313736 ^@ NM_000347.5(SPTB):c.3624G>A (p.Arg1208=) http://identifiers.org/clinvar/313886 ^@ NM_015346.3(ZFYVE26):c.5622-10_5622-9delCT http://identifiers.org/clinvar/323610 ^@ NM_002055.4(GFAP):c.1171+5G>A http://identifiers.org/clinvar/314036 ^@ NM_031427.3(DNAL1):c.*1405C>A http://identifiers.org/clinvar/323660 ^@ NM_005910.5(MAPT):c.*464G>A http://identifiers.org/clinvar/315925 ^@ NM_138477.2(CDAN1):c.2948-13C>T http://identifiers.org/clinvar/316075 ^@ NM_025137.3(SPG11):c.7015G>A (p.Glu2339Lys) http://identifiers.org/clinvar/314236 ^@ NM_006432.3(NPC2):c.*271C>T http://identifiers.org/clinvar/316175 ^@ NM_014080.4(DUOX2):c.1825C>T (p.Pro609Ser) http://identifiers.org/clinvar/314286 ^@ NM_000428.2(LTBP2):c.3114G>A (p.Gln1038=) http://identifiers.org/clinvar/316225 ^@ NM_012388.3(BLOC1S6):c.432A>G (p.Gln144=) http://identifiers.org/clinvar/316475 ^@ NM_031226.2(CYP19A1):c.629-10T>C http://identifiers.org/clinvar/324267 ^@ NM_018488.3(TBX4):c.*25G>A http://identifiers.org/clinvar/324319 ^@ NM_032043.2(BRIP1):c.*2522A>G http://identifiers.org/clinvar/324519 ^@ NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) http://identifiers.org/clinvar/324569 ^@ NM_014336.4(AIPL1):c.*1568G>A http://identifiers.org/clinvar/316775 ^@ NM_001101362.2(KBTBD13):c.*1556G>A http://identifiers.org/clinvar/316825 ^@ NM_004727.2(SLC24A1):c.*1618A>G http://identifiers.org/clinvar/314786 ^@ NM_018418.4(SPATA7):c.1112T>C (p.Ile371Thr) http://identifiers.org/clinvar/324669 ^@ NM_031220.3(PITPNM3):c.*3453_*3454insA http://identifiers.org/clinvar/324769 ^@ NM_031220.3(PITPNM3):c.195C>T (p.Ile65=) http://identifiers.org/clinvar/324819 ^@ NM_002734.4(PRKAR1A):c.*2188C>G http://identifiers.org/clinvar/324919 ^@ NM_000346.3(SOX9):c.1167G>A (p.Pro389=) http://identifiers.org/clinvar/325019 ^@ NM_023036.4(DNAI2):c.1489T>A (p.Ser497Thr) http://identifiers.org/clinvar/325369 ^@ NM_004035.6(ACOX1):c.*474G>A http://identifiers.org/clinvar/316025 ^@ NM_000119.2(EPB42):c.300C>T (p.Ser100=) http://identifiers.org/clinvar/317915 ^@ NM_001287.5(CLCN7):c.*1293G>A http://identifiers.org/clinvar/316125 ^@ NM_014080.4(DUOX2):c.*852T>A http://identifiers.org/clinvar/318015 ^@ NM_001143979.1(NDE1):c.-812C>T http://identifiers.org/clinvar/316275 ^@ NM_000338.2(SLC12A1):c.2787C>T (p.Ile929=) http://identifiers.org/clinvar/373136 ^@ NM_001165963.1(SCN1A):c.1034G>T (p.Cys345Phe) http://identifiers.org/clinvar/373536 ^@ NM_001256850.1(TTN):c.14395C>T (p.Arg4799Ter) http://identifiers.org/clinvar/373586 ^@ NM_015265.3(SATB2):c.868C>T (p.Gln290Ter) http://identifiers.org/clinvar/373336 ^@ NM_025074.6(FRAS1):c.5939C>T (p.Ser1980Phe) http://identifiers.org/clinvar/373386 ^@ NM_000297.3(PKD2):c.2543G>A (p.Arg848Gln) http://identifiers.org/clinvar/373236 ^@ NM_014244.4(ADAMTS2):c.563A>G (p.Glu188Gly) http://identifiers.org/clinvar/372626 ^@ NM_004333.4(BRAF):c.1574T>G (p.Leu525Arg) http://identifiers.org/clinvar/373186 ^@ NM_015723.4(PNPLA8):c.419C>A (p.Ser140Ter) http://identifiers.org/clinvar/373286 ^@ NM_000112.3(SLC26A2):c.1831delG (p.Val611Trpfs) http://identifiers.org/clinvar/373636 ^@ NM_006073.3(TRDN):c.1137T>G (p.Asp379Glu) http://identifiers.org/clinvar/372883 ^@ NM_078480.2(PUF60):c.590dupG (p.Arg198Glnfs) http://identifiers.org/clinvar/372678 ^@ NM_000256.3(MYBPC3):c.1458G>A (p.Trp486Ter) http://identifiers.org/clinvar/372417 ^@ NM_000256.3(MYBPC3):c.275_276delTC (p.Leu92Glnfs) http://identifiers.org/clinvar/373686 ^@ NM_006393.2(NEBL):c.625G>A (p.Ala209Thr) http://identifiers.org/clinvar/372780 ^@ NM_024570.3(RNASEH2B):c.412C>T (p.Leu138Phe) http://identifiers.org/clinvar/373436 ^@ NM_024649.4(BBS1):c.911_913delTGG (p.Val304del) http://identifiers.org/clinvar/373036 ^@ NM_006194.3(PAX9):c.325_331dupGACGGCG (p.Val111Glyfs) http://identifiers.org/clinvar/372472 ^@ NM_002693.2(POLG):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/373486 ^@ NM_201631.3(TGM5):c.919G>A (p.Asp307Asn) http://identifiers.org/clinvar/372936 ^@ NM_002755.3(MAP2K1):c.1066A>G (p.Met356Val) http://identifiers.org/clinvar/372832 ^@ NM_001193466.1(KANSL1):c.1651dupA (p.Thr551Asnfs) http://identifiers.org/clinvar/372524 ^@ NM_000455.4(STK11):c.921-1G>C http://identifiers.org/clinvar/372576 ^@ NM_172107.3(KCNQ2):c.287A>C (p.His96Pro) http://identifiers.org/clinvar/373086 ^@ NM_003159.2(CDKL5):c.1006C>T (p.Gln336Ter) http://identifiers.org/clinvar/372986 ^@ NM_015937.5(PIGT):c.988C>T (p.Arg330Ter) http://identifiers.org/clinvar/372730 ^@ NM_000206.2(IL2RG):c.718T>C (p.Trp240Arg) http://identifiers.org/clinvar/374420 ^@ NM_003070.4(SMARCA2):c.4364G>C (p.Arg1455Thr) http://identifiers.org/clinvar/374470 ^@ NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) http://identifiers.org/clinvar/374520 ^@ NM_033100.3(CDHR1):c.2218C>T (p.Leu740Phe) http://identifiers.org/clinvar/374570 ^@ NM_005211.3(CSF1R):c.1420G>A (p.Val474Ile) http://identifiers.org/clinvar/374620 ^@ NM_001848.2(COL6A1):c.904-2A>G http://identifiers.org/clinvar/374670 ^@ NM_001083961.1(WDR62):c.3763G>A (p.Val1255Ile) http://identifiers.org/clinvar/374720 ^@ NM_007375.3(TARDBP):c.945G>A (p.Ala315=) http://identifiers.org/clinvar/374770 ^@ NM_004369.3(COL6A3):c.5743C>T (p.Arg1915Trp) http://identifiers.org/clinvar/374947 ^@ NM_000098.2(CPT2):c.448A>G (p.Thr150Ala) http://identifiers.org/clinvar/375217 ^@ NM_000248.3(MITF):c.635-1G>A http://identifiers.org/clinvar/375278 ^@ NM_014957.2(DENND3):c.1920delG (p.Lys640Asnfs) http://identifiers.org/clinvar/375332 ^@ NC_000001.11:g.226963276_227007955del44680 http://identifiers.org/clinvar/375383 ^@ NM_033066.2(MPP4):c.946T>C (p.Trp316Arg) http://identifiers.org/clinvar/375438 ^@ NM_153427.2(PITX2):c.271C>G (p.Arg91Gly) http://identifiers.org/clinvar/375507 ^@ NM_021007.2(SCN2A):c.571T>G (p.Trp191Gly) http://identifiers.org/clinvar/375564 ^@ NM_032578.3(MYPN):c.2003delA (p.Asn668Thrfs) http://identifiers.org/clinvar/375624 ^@ NM_001197104.1(KMT2A):c.6002_6005delTTGT (p.Phe2001Trpfs) http://identifiers.org/clinvar/375675 ^@ NM_016239.3(MYO15A):c.4528C>T (p.Gln1510Ter) http://identifiers.org/clinvar/375769 ^@ NM_000527.4(LDLR):c.-168A>G http://identifiers.org/clinvar/375819 ^@ NM_000527.4(LDLR):c.1694G>A (p.Gly565Asp) http://identifiers.org/clinvar/375872 ^@ NM_002524.4(NRAS):c.182_183delAAinsTG (p.Gln61Leu) http://identifiers.org/clinvar/375922 ^@ NM_000222.2(KIT):c.1964A>G (p.Asn655Ser) http://identifiers.org/clinvar/389865 ^@ NM_000251.2(MSH2):c.813T>G (p.Ser271=) http://identifiers.org/clinvar/392604 ^@ NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) http://identifiers.org/clinvar/390515 ^@ NM_000090.3(COL3A1):c.3693C>A (p.Thr1231=) http://identifiers.org/clinvar/378281 ^@ NM_001135659.2(NRXN1):c.273C>T (p.Leu91=) http://identifiers.org/clinvar/381132 ^@ NM_000465.3(BARD1):c.1678-18C>G http://identifiers.org/clinvar/387076 ^@ NM_144736.4(NDUFAF7):c.216+4T>G http://identifiers.org/clinvar/380379 ^@ NM_000249.3(MLH1):c.30G>T (p.Arg10=) http://identifiers.org/clinvar/380329 ^@ NM_024582.4(FAT4):c.2420C>T (p.Ala807Val) http://identifiers.org/clinvar/391754 ^@ NM_005051.2(QARS):c.2152-9T>C http://identifiers.org/clinvar/380982 ^@ NM_001135659.2(NRXN1):c.684C>T (p.Cys228=) http://identifiers.org/clinvar/381282 ^@ NM_033109.4(PNPT1):c.2070-16A>C http://identifiers.org/clinvar/392154 ^@ NM_001148.4(ANK2):c.187-6T>C http://identifiers.org/clinvar/377479 ^@ NM_001148.4(ANK2):c.10976G>T (p.Arg3659Leu) http://identifiers.org/clinvar/380079 ^@ NM_181705.3(LYRM7):c.42G>A (p.Leu14=) http://identifiers.org/clinvar/390765 ^@ NM_005654.5(NR2F1):c.1248T>A (p.Pro416=) http://identifiers.org/clinvar/392454 ^@ NM_000426.3(LAMA2):c.2451-18G>A http://identifiers.org/clinvar/387926 ^@ NM_014244.4(ADAMTS2):c.1867C>T (p.Arg623Cys) http://identifiers.org/clinvar/391954 ^@ NM_006846.3(SPINK5):c.1539G>A (p.Glu513=) http://identifiers.org/clinvar/380580 ^@ NM_004168.3(SDHA):c.1551+16C>T http://identifiers.org/clinvar/378181 ^@ NM_002454.2(MTRR):c.1020C>T (p.Cys340=) http://identifiers.org/clinvar/390115 ^@ NM_006514.3(SCN10A):c.5445C>T (p.Ser1815=) http://identifiers.org/clinvar/378131 ^@ NM_002397.4(MEF2C):c.402+104C>T http://identifiers.org/clinvar/387226 ^@ NM_005670.3(EPM2A):c.66G>A (p.Val22=) http://identifiers.org/clinvar/380932 ^@ NM_001069.2(TUBB2A):c.167-19C>T http://identifiers.org/clinvar/384326 ^@ NM_000038.5(APC):c.6621A>G (p.Ser2207=) http://identifiers.org/clinvar/383675 ^@ NM_000445.4(PLEC):c.10540G>A (p.Val3514Met) http://identifiers.org/clinvar/393204 ^@ NM_005045.3(RELN):c.7571G>A (p.Arg2524Gln) http://identifiers.org/clinvar/392804 ^@ NM_000445.4(PLEC):c.4801G>A (p.Ala1601Thr) http://identifiers.org/clinvar/387726 ^@ NM_001127500.2(MET):c.3865G>A (p.Val1289Met) http://identifiers.org/clinvar/378385 ^@ NM_000535.6(PMS2):c.903+11T>A http://identifiers.org/clinvar/380279 ^@ NM_003165.3(STXBP1):c.855C>T (p.Asp285=) http://identifiers.org/clinvar/390665 ^@ NM_000445.4(PLEC):c.11221C>T (p.Leu3741=) http://identifiers.org/clinvar/378231 ^@ NM_002485.4(NBN):c.37+12A>C http://identifiers.org/clinvar/377829 ^@ NM_005670.3(EPM2A):c.143G>A (p.Gly48Asp) http://identifiers.org/clinvar/391604 ^@ NM_014629.3(ARHGEF10):c.2768T>C (p.Ile923Thr) http://identifiers.org/clinvar/379678 ^@ NM_032861.3(SERAC1):c.1137A>G (p.Val379=) http://identifiers.org/clinvar/391804 ^@ NM_080680.2(COL11A2):c.2179G>T (p.Gly727Ter) http://identifiers.org/clinvar/378687 ^@ NM_003165.3(STXBP1):c.902+19C>A http://identifiers.org/clinvar/133029 ^@ NM_000540.2(RYR1):c.1201C>T (p.Arg401Cys) http://identifiers.org/clinvar/133079 ^@ NM_000540.2(RYR1):c.14578_14580delTTC (p.Phe4860del) http://identifiers.org/clinvar/133129 ^@ NM_000540.2(RYR1):c.38T>G (p.Leu13Arg) http://identifiers.org/clinvar/133865 ^@ NM_015083.2(CDK12):c.4354G>T (p.Gly1452Cys) http://identifiers.org/clinvar/133915 ^@ NM_015125.4(CIC):c.3829C>T (p.Arg1277Cys) http://identifiers.org/clinvar/133965 ^@ NM_177438.2(DICER1):c.1825G>T (p.Asp609Tyr) http://identifiers.org/clinvar/134015 ^@ NM_001077706.2(ECT2L):c.1051G>A (p.Glu351Lys) http://identifiers.org/clinvar/134067 ^@ NM_004448.3(ERBB2):c.43C>T (p.Leu15Phe) http://identifiers.org/clinvar/134117 ^@ NM_000400.3(ERCC2):c.934G>A (p.Asp312Asn) http://identifiers.org/clinvar/134167 ^@ NM_000123.3(ERCC5):c.3038A>G (p.Gln1013Arg) http://identifiers.org/clinvar/134217 ^@ NM_207122.1(EXT2):c.1110G>T (p.Met370Ile) http://identifiers.org/clinvar/134267 ^@ NM_000135.2(FANCA):c.3427C>G (p.Leu1143Val) http://identifiers.org/clinvar/134318 ^@ NM_033084.4(FANCD2):c.2702G>T (p.Gly901Val) http://identifiers.org/clinvar/134369 ^@ NM_004629.1(FANCG):c.988C>T (p.Pro330Ser) http://identifiers.org/clinvar/134419 ^@ NM_030917.3(FIP1L1):c.695A>G (p.Asn232Ser) http://identifiers.org/clinvar/134469 ^@ NM_001002295.1(GATA3):c.448C>A (p.Leu150Ile) http://identifiers.org/clinvar/134519 ^@ NM_001282386.1(IDH1):c.659A>G (p.Asp220Gly) http://identifiers.org/clinvar/134569 ^@ NM_000215.3(JAK3):c.1843C>T (p.Arg615Cys) http://identifiers.org/clinvar/134619 ^@ NM_002253.2(KDR):c.1116G>C (p.Glu372Asp) http://identifiers.org/clinvar/134671 ^@ NM_003482.3(KMT2D):c.3902A>G (p.Lys1301Arg) http://identifiers.org/clinvar/134722 ^@ NM_003482.3(KMT2D):c.13582G>A (p.Ala4528Thr) http://identifiers.org/clinvar/134772 ^@ NM_170606.2(KMT2C):c.8488A>C (p.Asn2830His) http://identifiers.org/clinvar/134822 ^@ NM_005373.2(MPL):c.235_236delCT (p.Leu79Glufs) http://identifiers.org/clinvar/134876 ^@ NM_002485.4(NBN):c.553G>C (p.Glu185Gln) http://identifiers.org/clinvar/134926 ^@ NM_017617.4(NOTCH1):c.3401A>G (p.Gln1134Arg) http://identifiers.org/clinvar/134976 ^@ NM_024408.3(NOTCH2):c.4820G>A (p.Arg1607His) http://identifiers.org/clinvar/135026 ^@ NM_006206.4(PDGFRA):c.853A>G (p.Ser285Gly) http://identifiers.org/clinvar/135077 ^@ NM_001198.3(PRDM1):c.448G>A (p.Gly150Ser) http://identifiers.org/clinvar/135128 ^@ NM_004260.3(RECQL4):c.1684C>T (p.Arg562Trp) http://identifiers.org/clinvar/135179 ^@ NM_020975.4(RET):c.2432C>G (p.Ser811Cys) http://identifiers.org/clinvar/135209 ^@ NM_014159.6(SETD2):c.1579A>G (p.Ile527Val) http://identifiers.org/clinvar/135260 ^@ NM_005631.4(SMO):c.2093C>G (p.Pro698Arg) http://identifiers.org/clinvar/135310 ^@ NM_001127208.2(TET2):c.1379C>T (p.Ser460Phe) http://identifiers.org/clinvar/135360 ^@ NM_000546.5(TP53):c.1096T>G (p.Ser366Ala) http://identifiers.org/clinvar/135411 ^@ NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) http://identifiers.org/clinvar/135461 ^@ NM_000380.3(XPA):c.754C>G (p.Leu252Val) http://identifiers.org/clinvar/135511 ^@ NM_000107.2(DDB2):c.128-84T>G http://identifiers.org/clinvar/135561 ^@ NM_000249.3(MLH1):c.*32C>T http://identifiers.org/clinvar/135636 ^@ NM_033071.3(SYNE1):c.9637C>A (p.Leu3213Met) http://identifiers.org/clinvar/135696 ^@ NM_000038.5(APC):c.3303A>G (p.Pro1101=) http://identifiers.org/clinvar/135747 ^@ NM_000051.3(ATM):c.2941C>T (p.Arg981Cys) http://identifiers.org/clinvar/135805 ^@ NM_000059.3(BRCA2):c.5547T>G (p.Gly1849=) http://identifiers.org/clinvar/135856 ^@ NM_000251.2(MSH2):c.1986G>C (p.Gln662His) http://identifiers.org/clinvar/135906 ^@ NM_000264.3(PTCH1):c.646A>G (p.Met216Val) http://identifiers.org/clinvar/135956 ^@ NM_000551.3(VHL):c.416C>G (p.Ser139Cys) http://identifiers.org/clinvar/136008 ^@ NM_001166110.1(PALLD):c.461C>T (p.Ala154Val) http://identifiers.org/clinvar/136058 ^@ NM_004360.4(CDH1):c.1308G>A (p.Leu436=) http://identifiers.org/clinvar/136109 ^@ NM_020975.4(RET):c.2199C>T (p.Gly733=) http://identifiers.org/clinvar/136159 ^@ NM_058216.2(RAD51C):c.421G>A (p.Asp141Asn) http://identifiers.org/clinvar/185261 ^@ NM_007294.3(BRCA1):c.5269_5273delGACAG (p.Asp1757Lysfs) http://identifiers.org/clinvar/185411 ^@ NM_007294.3(BRCA1):c.4675+1G>T http://identifiers.org/clinvar/185061 ^@ NM_007294.3(BRCA1):c.3247A>G (p.Met1083Val) http://identifiers.org/clinvar/185111 ^@ NM_007294.3(BRCA1):c.2773A>G (p.Ile925Val) http://identifiers.org/clinvar/184511 ^@ NM_007294.3(BRCA1):c.603T>C (p.Asp201=) http://identifiers.org/clinvar/187052 ^@ NM_000546.5(TP53):c.487T>G (p.Tyr163Asp) http://identifiers.org/clinvar/187302 ^@ NM_000546.5(TP53):c.149T>A (p.Ile50Asn) http://identifiers.org/clinvar/184561 ^@ NM_005359.5(SMAD4):c.1461T>A (p.Ala487=) http://identifiers.org/clinvar/184461 ^@ NM_000455.4(STK11):c.765C>T (p.Phe255=) http://identifiers.org/clinvar/186311 ^@ NM_000455.4(STK11):c.1015C>G (p.Pro339Ala) http://identifiers.org/clinvar/187752 ^@ NM_007194.3(CHEK2):c.544C>A (p.Pro182Thr) http://identifiers.org/clinvar/186211 ^@ NM_007194.3(CHEK2):c.129C>T (p.Thr43=) http://identifiers.org/clinvar/187813 ^@ NM_014795.3(ZEB2):c.3544delG (p.Glu1182Lysfs) http://identifiers.org/clinvar/187885 ^@ NM_005957.4(MTHFR):c.780+1G>T http://identifiers.org/clinvar/187935 ^@ NM_004409.4(DMPK):c.*224_*226[195] http://identifiers.org/clinvar/187985 ^@ NM_004409.4(DMPK):c.*224_*226[449] http://identifiers.org/clinvar/188035 ^@ NM_004409.4(DMPK):c.*224_*226[823] http://identifiers.org/clinvar/188239 ^@ NM_000038.5(APC):c.3830T>G (p.Leu1277Ter) http://identifiers.org/clinvar/188292 ^@ NM_000077.4(CDKN2A):c.104G>A (p.Gly35Glu) http://identifiers.org/clinvar/188187 ^@ NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) http://identifiers.org/clinvar/188085 ^@ NM_004360.4(CDH1):c.1679C>T (p.Thr560Met) http://identifiers.org/clinvar/188346 ^@ NM_032043.2(BRIP1):c.3238G>A (p.Asp1080Asn) http://identifiers.org/clinvar/188136 ^@ NM_000166.5(GJB1):c.116C>T (p.Ala39Val) http://identifiers.org/clinvar/189970 ^@ NM_001165963.1(SCN1A):c.5106T>A (p.Asp1702Glu) http://identifiers.org/clinvar/190020 ^@ NM_001165963.1(SCN1A):c.930_931dupTG (p.Glu311Valfs) http://identifiers.org/clinvar/190155 ^@ NM_000124.3(ERCC6):c.1954C>T (p.Arg652Ter) http://identifiers.org/clinvar/190205 ^@ NM_001110556.1(FLNA):c.987+1G>A http://identifiers.org/clinvar/190261 ^@ NM_001620.2(AHNAK):c.6539A>G (p.Lys2180Arg) http://identifiers.org/clinvar/190339 ^@ NM_002055.4(GFAP):c.259G>A (p.Val87Ile) http://identifiers.org/clinvar/190399 ^@ NM_007375.3(TARDBP):c.1150G>C (p.Gly384Arg) http://identifiers.org/clinvar/227561 ^@ NM_001018116.2(CAVIN4):c.939G>A (p.Glu313=) http://identifiers.org/clinvar/227331 ^@ NM_014908.3(DOLK):c.1079A>G (p.Tyr360Cys) http://identifiers.org/clinvar/227230 ^@ NM_022124.5(CDH23):c.5919C>T (p.Pro1973=) http://identifiers.org/clinvar/227761 ^@ NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr) http://identifiers.org/clinvar/226879 ^@ NM_001277269.1(OTOG):c.3224G>A (p.Arg1075Gln) http://identifiers.org/clinvar/226979 ^@ NM_012226.4(P2RX2):c.1086G>A (p.Pro362=) http://identifiers.org/clinvar/227661 ^@ NM_005379.3(MYO1A):c.658C>T (p.Arg220Trp) http://identifiers.org/clinvar/227811 ^@ NM_173591.3(OTOGL):c.1414+10T>A http://identifiers.org/clinvar/226929 ^@ NM_173591.3(OTOGL):c.1946A>T (p.His649Leu) http://identifiers.org/clinvar/226779 ^@ NM_016239.3(MYO15A):c.2152T>G (p.Trp718Gly) http://identifiers.org/clinvar/226829 ^@ NM_003803.3(MYOM1):c.539C>T (p.Thr180Ile) http://identifiers.org/clinvar/227531 ^@ NM_144612.6(LOXHD1):c.670A>C (p.Ile224Leu) http://identifiers.org/clinvar/227381 ^@ NM_133261.2(GIPC3):c.69G>C (p.Ala23=) http://identifiers.org/clinvar/227611 ^@ NM_002473.5(MYH9):c.4095+15G>A http://identifiers.org/clinvar/227080 ^@ NM_006941.3(SOX10):c.428+10C>G http://identifiers.org/clinvar/227130 ^@ NM_144991.2(TSPEAR):c.1224C>G (p.His408Gln) http://identifiers.org/clinvar/227180 ^@ NM_001692.3(ATP6V1B1):c.189G>A (p.Ala63=) http://identifiers.org/clinvar/227481 ^@ NM_002290.4(LAMA4):c.4981T>C (p.Leu1661=) http://identifiers.org/clinvar/234880 ^@ NM_004360.4(CDH1):c.965A>G (p.Asn322Ser) http://identifiers.org/clinvar/231013 ^@ NM_004360.4(CDH1):c.1277C>T (p.Thr426Ile) http://identifiers.org/clinvar/232703 ^@ NM_001128425.1(MUTYH):c.1215G>T (p.Pro405=) http://identifiers.org/clinvar/233453 ^@ NM_001128425.1(MUTYH):c.1065G>C (p.Val355=) http://identifiers.org/clinvar/230313 ^@ NM_000465.3(BARD1):c.1479A>C (p.Gln493His) http://identifiers.org/clinvar/230613 ^@ NM_000251.2(MSH2):c.-68-94C>T http://identifiers.org/clinvar/231613 ^@ NM_000251.2(MSH2):c.433A>G (p.Ile145Val) http://identifiers.org/clinvar/233703 ^@ NM_000179.2(MSH6):c.485G>C (p.Gly162Ala) http://identifiers.org/clinvar/231813 ^@ NM_000179.2(MSH6):c.3956A>G (p.Lys1319Arg) http://identifiers.org/clinvar/230963 ^@ NM_000249.3(MLH1):c.705T>C (p.Asp235=) http://identifiers.org/clinvar/231663 ^@ NM_000038.5(APC):c.384A>G (p.Arg128=) http://identifiers.org/clinvar/230263 ^@ NM_000038.5(APC):c.2570delG (p.Gly857Glufs) http://identifiers.org/clinvar/230713 ^@ NM_000038.5(APC):c.3067dupA (p.Thr1023Asnfs) http://identifiers.org/clinvar/264355 ^@ NM_000138.4(FBN1):c.149A>T (p.His50Leu) http://identifiers.org/clinvar/264238 ^@ NM_000891.2(KCNJ2):c.750C>A (p.Ile250=) http://identifiers.org/clinvar/264505 ^@ NM_000071.2(CBS):c.786G>A (p.Thr262=) http://identifiers.org/clinvar/264405 ^@ NM_006440.4(TXNRD2):c.714C>T (p.Thr238=) http://identifiers.org/clinvar/264188 ^@ NM_005120.2(MED12):c.4650C>T (p.Ser1550=) http://identifiers.org/clinvar/265524 ^@ NM_001486.3(GCKR):c.151C>T (p.Arg51Ter) http://identifiers.org/clinvar/265374 ^@ NM_000038.5(APC):c.1522_1523delTT (p.Leu508Aspfs) http://identifiers.org/clinvar/265274 ^@ NM_012470.3(TNPO3):c.2542delT (p.Tyr848Ilefs) http://identifiers.org/clinvar/265424 ^@ NM_000264.3(PTCH1):c.3042delC (p.Phe1015Serfs) http://identifiers.org/clinvar/265575 ^@ NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) http://identifiers.org/clinvar/265474 ^@ NM_207122.1(EXT2):c.743+1G>A http://identifiers.org/clinvar/265169 ^@ NM_000512.4(GALNS):c.860C>T (p.Ser287Leu) http://identifiers.org/clinvar/265324 ^@ NM_013275.5(ANKRD11):c.3770_3771delAA (p.Lys1257Argfs) http://identifiers.org/clinvar/265119 ^@ NM_001972.3(ELANE):c.628G>A (p.Gly210Arg) http://identifiers.org/clinvar/265675 ^@ NM_015338.5(ASXL1):c.2922C>A (p.Tyr974Ter) http://identifiers.org/clinvar/265625 ^@ NM_000516.5(GNAS):c.784C>T (p.Gln262Ter) http://identifiers.org/clinvar/265221 ^@ NM_000425.4(L1CAM):c.807-6G>A http://identifiers.org/clinvar/265757 ^@ NM_198329.3(UBA5):c.760A>G (p.Lys254Glu) http://identifiers.org/clinvar/265864 ^@ NM_000812.3(GABRB1):c.860C>T (p.Thr287Ile) http://identifiers.org/clinvar/265914 ^@ NM_174936.3(PCSK9):c.-67C>A http://identifiers.org/clinvar/265968 ^@ NM_003611.2(OFD1):c.275_276delCT (p.Ser92Cyssf*24) http://identifiers.org/clinvar/266020 ^@ NM_019023.2(PRMT7):c.1276-1G>A http://identifiers.org/clinvar/266096 ^@ NM_001174150.1(ARL13B):c.599G>A (p.Arg200His) http://identifiers.org/clinvar/266646 ^@ NM_000059.3(BRCA2):c.1587delTinsCA (p.Glu532Argfs) http://identifiers.org/clinvar/266496 ^@ NM_007294.3(BRCA1):c.4834delC (p.Gln1612Argfs) http://identifiers.org/clinvar/266446 ^@ NM_007294.3(BRCA1):c.4116delT (p.Cys1372Trpfs) http://identifiers.org/clinvar/266396 ^@ NM_007294.3(BRCA1):c.3631_3634delTCCT (p.Ser1211Glnfs) http://identifiers.org/clinvar/266346 ^@ NM_007294.3(BRCA1):c.3243_3288dup46 (p.Ser1097Cysfs) http://identifiers.org/clinvar/266296 ^@ NM_007294.3(BRCA1):c.2709_2710delTG (p.Cys903Terfs) http://identifiers.org/clinvar/266246 ^@ NM_007294.3(BRCA1):c.2309C>G (p.Ser770Ter) http://identifiers.org/clinvar/266196 ^@ NM_007294.3(BRCA1):c.1885delA (p.Arg629Glufs) http://identifiers.org/clinvar/266146 ^@ NM_007294.3(BRCA1):c.1222A>T (p.Lys408Ter) http://identifiers.org/clinvar/266596 ^@ NM_007294.3(BRCA1):c.958delA (p.Arg320Aspfs) http://identifiers.org/clinvar/266546 ^@ NM_007294.3(BRCA1):c.531delT (p.Val178Serfs) http://identifiers.org/clinvar/290925 ^@ NM_004006.2(DMD):c.6614+7C>T http://identifiers.org/clinvar/290975 ^@ NM_138694.3(PKHD1):c.935G>A (p.Arg312Gln) http://identifiers.org/clinvar/291025 ^@ NM_057174.2(PEX16):c.802C>T (p.Arg268Trp) http://identifiers.org/clinvar/291075 ^@ NM_000137.2(FAH):c.963C>A (p.Tyr321Ter) http://identifiers.org/clinvar/291125 ^@ NM_001079802.1(FKTN):c.1312C>T (p.Arg438Cys) http://identifiers.org/clinvar/291176 ^@ NM_000283.3(PDE6B):c.2193+15C>T http://identifiers.org/clinvar/291226 ^@ NM_004369.3(COL6A3):c.5969G>A (p.Arg1990Gln) http://identifiers.org/clinvar/291276 ^@ NM_000392.4(ABCC2):c.3436C>T (p.Arg1146Cys) http://identifiers.org/clinvar/291391 ^@ NM_001918.3(DBT):c.*6903delT http://identifiers.org/clinvar/291441 ^@ NM_001918.3(DBT):c.*985C>T http://identifiers.org/clinvar/291491 ^@ NM_001854.3(COL11A1):c.*17A>G http://identifiers.org/clinvar/291541 ^@ NM_001854.3(COL11A1):c.898-15T>C http://identifiers.org/clinvar/291591 ^@ NM_015074.3(KIF1B):c.*275_*280delCACACA http://identifiers.org/clinvar/291633 ^@ NM_015074.3(KIF1B):c.*2858G>C http://identifiers.org/clinvar/291733 ^@ NM_007375.3(TARDBP):c.-12-10_-12-9delTT http://identifiers.org/clinvar/291883 ^@ NM_013319.2(UBIAD1):c.*684C>A http://identifiers.org/clinvar/291683 ^@ NM_004565.2(PEX14):c.*174C>T http://identifiers.org/clinvar/291833 ^@ NM_003051.3(SLC16A1):c.*1281T>G http://identifiers.org/clinvar/291783 ^@ NM_006610.3(MASP2):c.1243G>A (p.Asp415Asn) http://identifiers.org/clinvar/291933 ^@ NM_000036.2(AMPD1):c.523C>T (p.Arg175Trp) http://identifiers.org/clinvar/292233 ^@ NM_005957.4(MTHFR):c.1753-14dupG http://identifiers.org/clinvar/292283 ^@ NM_000302.3(PLOD1):c.540G>A (p.Gln180=) http://identifiers.org/clinvar/292333 ^@ NM_005518.3(HMGCS2):c.862C>A (p.Arg288=) http://identifiers.org/clinvar/292033 ^@ NM_138959.2(VANGL1):c.*1043A>G http://identifiers.org/clinvar/291983 ^@ NM_002524.4(NRAS):c.-245C>T http://identifiers.org/clinvar/292183 ^@ NM_005957.4(MTHFR):c.*2876C>T http://identifiers.org/clinvar/292483 ^@ NM_005850.4(SF3B4):c.-1C>T http://identifiers.org/clinvar/292383 ^@ NM_014874.3(MFN2):c.*221_*222dupTT http://identifiers.org/clinvar/292133 ^@ NM_001232.3(CASQ2):c.-105A>G http://identifiers.org/clinvar/292083 ^@ NM_138959.2(VANGL1):c.*5132G>T http://identifiers.org/clinvar/292433 ^@ NM_213653.3(HFE2):c.1254C>G (p.Leu418=) http://identifiers.org/clinvar/293422 ^@ NM_004431.4(EPHA2):c.1864+12C>T http://identifiers.org/clinvar/293522 ^@ NM_006996.2(SLC19A2):c.1436T>C (p.Met479Thr) http://identifiers.org/clinvar/293372 ^@ NM_006182.2(DDR2):c.383G>A (p.Arg128His) http://identifiers.org/clinvar/293872 ^@ NM_033343.3(LHX4):c.*17C>A http://identifiers.org/clinvar/293922 ^@ NM_002065.6(GLUL):c.*981T>G http://identifiers.org/clinvar/293972 ^@ NM_002065.6(GLUL):c.-745C>T http://identifiers.org/clinvar/294072 ^@ NM_000433.3(NCF2):c.*97A>C http://identifiers.org/clinvar/294172 ^@ NM_031935.2(HMCN1):c.6239G>C (p.Arg2080Thr) http://identifiers.org/clinvar/294222 ^@ NM_031935.2(HMCN1):c.10942G>C (p.Val3648Leu) http://identifiers.org/clinvar/294272 ^@ NM_031935.2(HMCN1):c.13968C>T (p.Ser4656=) http://identifiers.org/clinvar/293322 ^@ NM_003001.3(SDHC):c.*174G>A http://identifiers.org/clinvar/293472 ^@ NM_005149.2(TBX19):c.603+11G>T http://identifiers.org/clinvar/294472 ^@ NM_024529.4(CDC73):c.*3811_*3813delTTG http://identifiers.org/clinvar/294572 ^@ NM_001994.2(F13B):c.1707T>G (p.Asp569Glu) http://identifiers.org/clinvar/294622 ^@ NM_018136.4(ASPM):c.5606C>G (p.Thr1869Arg) http://identifiers.org/clinvar/293772 ^@ NM_022089.3(ATP13A2):c.3111C>T (p.Ala1037=) http://identifiers.org/clinvar/294872 ^@ NM_001005337.2(PKP1):c.*1689C>A http://identifiers.org/clinvar/293822 ^@ NM_018122.4(DARS2):c.834T>C (p.Phe278=) http://identifiers.org/clinvar/294922 ^@ NM_003465.2(CHIT1):c.807C>T (p.Arg269=) http://identifiers.org/clinvar/295022 ^@ NM_032409.2(PINK1):c.*532G>A http://identifiers.org/clinvar/335888 ^@ NM_014946.3(SPAST):c.*2898C>T http://identifiers.org/clinvar/343564 ^@ NM_004628.4(XPC):c.2421-11T>C http://identifiers.org/clinvar/343714 ^@ NM_032383.4(HPS3):c.2699G>A (p.Arg900His) http://identifiers.org/clinvar/337184 ^@ NM_000821.6(GGCX):c.*4047T>C http://identifiers.org/clinvar/337284 ^@ NM_000821.6(GGCX):c.-53C>T http://identifiers.org/clinvar/337384 ^@ NM_022912.2(REEP1):c.*226delT http://identifiers.org/clinvar/342464 ^@ NM_000551.3(VHL):c.*2118delT http://identifiers.org/clinvar/342414 ^@ NM_000551.3(VHL):c.*574T>C http://identifiers.org/clinvar/342714 ^@ NM_020754.3(ARHGAP31):c.*2178C>T http://identifiers.org/clinvar/342814 ^@ NM_000388.3(CASR):c.*923T>C http://identifiers.org/clinvar/342864 ^@ NM_053025.3(MYLK):c.*76dupA http://identifiers.org/clinvar/342764 ^@ NM_000187.3(HGD):c.-407C>T http://identifiers.org/clinvar/342964 ^@ NM_000373.3(UMPS):c.*1535G>A http://identifiers.org/clinvar/343114 ^@ NM_032638.4(GATA2):c.*1080G>A http://identifiers.org/clinvar/343214 ^@ NM_014049.4(ACAD9):c.*504G>A http://identifiers.org/clinvar/343064 ^@ NM_025265.3(TSEN2):c.-160C>G http://identifiers.org/clinvar/343314 ^@ NM_014382.3(ATP2C1):c.-78_-77delTC http://identifiers.org/clinvar/343364 ^@ NM_153240.4(NPHP3):c.*654dupA http://identifiers.org/clinvar/343414 ^@ NM_003571.3(BFSP2):c.*132G>C http://identifiers.org/clinvar/348202 ^@ NM_000860.5(HPGD):c.489C>T (p.Arg163=) http://identifiers.org/clinvar/343514 ^@ NM_024334.2(TMEM43):c.*270T>C http://identifiers.org/clinvar/346713 ^@ NM_002942.4(ROBO2):c.4038C>T (p.Thr1346=) http://identifiers.org/clinvar/346813 ^@ NM_014043.3(CHMP2B):c.*836T>C http://identifiers.org/clinvar/348402 ^@ NM_133330.2(NSD2):c.-384-5dupT http://identifiers.org/clinvar/361918 ^@ NM_003235.4(TG):c.1834C>A (p.Pro612Thr) http://identifiers.org/clinvar/353630 ^@ NM_002310.5(LIFR):c.819T>C (p.Ser273=) http://identifiers.org/clinvar/353780 ^@ NM_002203.3(ITGA2):c.3324T>C (p.Tyr1108=) http://identifiers.org/clinvar/362168 ^@ NM_000497.3(CYP11B1):c.239+13C>A http://identifiers.org/clinvar/362218 ^@ NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) http://identifiers.org/clinvar/358519 ^@ NM_000441.1(SLC26A4):c.*1277A>G http://identifiers.org/clinvar/362318 ^@ NM_006765.3(TUSC3):c.*732G>A http://identifiers.org/clinvar/358769 ^@ NM_012338.3(TSPAN12):c.-246T>G http://identifiers.org/clinvar/358919 ^@ NM_018718.2(CEP41):c.*2041G>A http://identifiers.org/clinvar/359069 ^@ NM_018238.3(AGK):c.*265G>A http://identifiers.org/clinvar/359219 ^@ NM_014141.5(CNTNAP2):c.*1433A>G http://identifiers.org/clinvar/354819 ^@ NM_007214.4(SEC63):c.*3497A>G http://identifiers.org/clinvar/363407 ^@ NM_017813.4(IMPAD1):c.652G>T (p.Ala218Ser) http://identifiers.org/clinvar/359569 ^@ NM_001101426.3(ISPD):c.*767T>C http://identifiers.org/clinvar/359619 ^@ NM_001277115.1(DNAH11):c.2932T>C (p.Cys978Arg) http://identifiers.org/clinvar/359719 ^@ NM_032581.3(FAM126A):c.*3804A>C http://identifiers.org/clinvar/355320 ^@ NM_000045.3(ARG1):c.566T>A (p.Ile189Asn) http://identifiers.org/clinvar/363707 ^@ NM_017866.5(TMEM70):c.*670T>C http://identifiers.org/clinvar/363807 ^@ NM_000318.2(PEX2):c.*489C>T http://identifiers.org/clinvar/363907 ^@ NM_002485.4(NBN):c.*485A>G http://identifiers.org/clinvar/364257 ^@ NM_001701.3(BAAT):c.*1205delC http://identifiers.org/clinvar/355520 ^@ NM_000288.3(PEX7):c.-88T>C http://identifiers.org/clinvar/364357 ^@ NM_005502.3(ABCA1):c.*1218A>G http://identifiers.org/clinvar/360658 ^@ NM_000501.3(ELN):c.1825C>T (p.Leu609Phe) http://identifiers.org/clinvar/361208 ^@ NM_178857.5(RP1L1):c.6916T>A (p.Trp2306Arg) http://identifiers.org/clinvar/361308 ^@ NM_178857.5(RP1L1):c.3514C>A (p.Leu1172Ile) http://identifiers.org/clinvar/361358 ^@ NM_178857.5(RP1L1):c.2154C>A (p.Asn718Lys) http://identifiers.org/clinvar/361459 ^@ NM_001715.2(BLK):c.-475A>C http://identifiers.org/clinvar/361618 ^@ NM_014112.4(TRPS1):c.1965G>A (p.Ser655=) http://identifiers.org/clinvar/366097 ^@ NM_144966.5(FREM1):c.*55G>T http://identifiers.org/clinvar/366147 ^@ NM_144966.5(FREM1):c.2337+3A>G http://identifiers.org/clinvar/311097 ^@ NM_001846.3(COL4A2):c.315+14G>T http://identifiers.org/clinvar/366647 ^@ NM_001497.3(B4GALT1):c.*256C>A http://identifiers.org/clinvar/367147 ^@ NM_004972.3(JAK2):c.*1119G>T http://identifiers.org/clinvar/311447 ^@ NM_002010.2(FGF9):c.*516C>A http://identifiers.org/clinvar/311697 ^@ NM_004795.3(KL):c.1599+14C>G http://identifiers.org/clinvar/364107 ^@ NM_004612.3(TGFBR1):c.*512_*516delATCTT http://identifiers.org/clinvar/303938 ^@ NM_003282.3(TNNI2):c.216C>T (p.Ile72=) http://identifiers.org/clinvar/304038 ^@ NM_004211.4(SLC6A5):c.2239-6T>C http://identifiers.org/clinvar/312247 ^@ NM_003701.3(TNFSF11):c.*554A>G http://identifiers.org/clinvar/312297 ^@ NM_000321.2(RB1):c.2652A>C (p.Glu884Asp) http://identifiers.org/clinvar/304338 ^@ NM_000280.4(PAX6):c.*1478C>T http://identifiers.org/clinvar/304388 ^@ NM_024426.4(WT1):c.*841C>A http://identifiers.org/clinvar/364207 ^@ NM_033087.3(ALG2):c.716A>C (p.Asn239Thr) http://identifiers.org/clinvar/304538 ^@ NM_000448.2(RAG1):c.*3122delT http://identifiers.org/clinvar/313186 ^@ NM_006194.3(PAX9):c.*1051T>G http://identifiers.org/clinvar/304688 ^@ NM_021926.3(ALX4):c.*517C>T http://identifiers.org/clinvar/299160 ^@ NM_001609.3(ACADSB):c.*4467A>T http://identifiers.org/clinvar/299210 ^@ NM_021980.4(OPTN):c.402C>A (p.Ala134=) http://identifiers.org/clinvar/304788 ^@ NM_004813.2(PEX16):c.760G>C (p.Val254Leu) http://identifiers.org/clinvar/313486 ^@ NM_182914.2(SYNE2):c.1129-4_1129-3delTC http://identifiers.org/clinvar/304938 ^@ NM_000256.3(MYBPC3):c.*163C>A http://identifiers.org/clinvar/299060 ^@ NM_001609.3(ACADSB):c.-102dupG http://identifiers.org/clinvar/305140 ^@ NM_002032.2(FTH1):c.*165T>C http://identifiers.org/clinvar/299610 ^@ NM_201590.2(CACNB2):c.*1242A>G http://identifiers.org/clinvar/299660 ^@ NM_017433.4(MYO3A):c.2016C>T (p.Thr672=) http://identifiers.org/clinvar/305340 ^@ NM_032193.3(RNASEH2C):c.*940A>G http://identifiers.org/clinvar/299310 ^@ NM_001033855.2(DCLRE1C):c.*11C>T http://identifiers.org/clinvar/314386 ^@ NM_001040108.1(MLH3):c.2159A>G (p.Tyr720Cys) http://identifiers.org/clinvar/299410 ^@ NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) http://identifiers.org/clinvar/305540 ^@ NM_006946.2(SPTBN2):c.5950-8G>A http://identifiers.org/clinvar/300010 ^@ NM_000124.3(ERCC6):c.*1780T>C http://identifiers.org/clinvar/300110 ^@ NM_000242.2(MBL2):c.*2219A>C http://identifiers.org/clinvar/299560 ^@ NM_201590.2(CACNB2):c.1044+6T>C http://identifiers.org/clinvar/299710 ^@ NM_014915.2(ANKRD26):c.*1235delT http://identifiers.org/clinvar/300260 ^@ NM_000417.2(IL2RA):c.167G>A (p.Arg56His) http://identifiers.org/clinvar/299760 ^@ NM_014915.2(ANKRD26):c.452A>C (p.His151Pro) http://identifiers.org/clinvar/299810 ^@ NM_021252.4(RAB18):c.-83C>A http://identifiers.org/clinvar/306354 ^@ NM_012193.3(FZD4):c.*3814C>T http://identifiers.org/clinvar/306404 ^@ NM_012193.3(FZD4):c.1517A>G (p.Lys506Arg) http://identifiers.org/clinvar/315975 ^@ NM_173500.3(TTBK2):c.3543G>A (p.Ser1181=) http://identifiers.org/clinvar/329198 ^@ NM_033064.4(ATCAY):c.*2742C>T http://identifiers.org/clinvar/329248 ^@ NM_181882.2(PRX):c.4111C>T (p.Arg1371Trp) http://identifiers.org/clinvar/329298 ^@ NM_003573.2(LTBP4):c.79C>T (p.Leu27=) http://identifiers.org/clinvar/329348 ^@ NM_030578.3(B9D2):c.-5G>A http://identifiers.org/clinvar/311147 ^@ NM_001846.3(COL4A2):c.2429G>A (p.Ser810Asn) http://identifiers.org/clinvar/311247 ^@ NM_000131.4(F7):c.*678_*679delCA http://identifiers.org/clinvar/317865 ^@ NM_005236.2(ERCC4):c.*3071T>C http://identifiers.org/clinvar/317965 ^@ NM_001287.5(CLCN7):c.286-10C>T http://identifiers.org/clinvar/311347 ^@ NM_021954.3(GJA3):c.375A>G (p.Pro125=) http://identifiers.org/clinvar/311397 ^@ NM_006783.4(GJB6):c.-405G>A http://identifiers.org/clinvar/318065 ^@ NM_001143979.1(NDE1):c.745G>T (p.Ala249Ser) http://identifiers.org/clinvar/329698 ^@ NM_000554.5(CRX):c.717C>A (p.Gly239=) http://identifiers.org/clinvar/318267 ^@ NM_004970.2(IGFALS):c.107C>A (p.Ala36Asp) http://identifiers.org/clinvar/311647 ^@ NM_015972.3(POLR1D):c.-1G>T http://identifiers.org/clinvar/329998 ^@ NM_144687.3(NLRP12):c.3152G>C (p.Arg1051Pro) http://identifiers.org/clinvar/318417 ^@ NM_001089.2(ABCA3):c.3279G>A (p.Glu1093=) http://identifiers.org/clinvar/318567 ^@ NM_001089.2(ABCA3):c.822C>T (p.Thr274=) http://identifiers.org/clinvar/318367 ^@ NM_001039.3(SCNN1G):c.*572A>G http://identifiers.org/clinvar/318467 ^@ NM_153603.3(COG7):c.1852G>A (p.Ala618Thr) http://identifiers.org/clinvar/311897 ^@ NM_001127217.2(SMAD9):c.1035G>A (p.Val345=) http://identifiers.org/clinvar/318717 ^@ NM_001042432.1(CLN3):c.1057-14C>A http://identifiers.org/clinvar/312097 ^@ NM_207361.5(FREM2):c.*5187C>G http://identifiers.org/clinvar/318917 ^@ NM_006662.2(SRCAP):c.9224G>A (p.Gly3075Glu) http://identifiers.org/clinvar/337684 ^@ NM_018848.3(MKKS):c.*460T>C http://identifiers.org/clinvar/318967 ^@ NM_001330.3(CTF1):c.*751G>C http://identifiers.org/clinvar/319017 ^@ NM_004960.3(FUS):c.*1476T>C http://identifiers.org/clinvar/337834 ^@ NM_024411.4(PDYN):c.600T>C (p.His200=) http://identifiers.org/clinvar/337934 ^@ NM_198994.2(TGM6):c.1657G>A (p.Val553Met) http://identifiers.org/clinvar/312397 ^@ NM_000053.3(ATP7B):c.676C>T (p.Arg226Trp) http://identifiers.org/clinvar/319518 ^@ NM_015247.2(CYLD):c.*841G>A http://identifiers.org/clinvar/338184 ^@ NM_006892.3(DNMT3B):c.2311G>A (p.Val771Ile) http://identifiers.org/clinvar/338384 ^@ NM_005461.4(MAFB):c.*1519C>G http://identifiers.org/clinvar/311297 ^@ NM_021954.3(GJA3):c.*2469T>C http://identifiers.org/clinvar/338434 ^@ NM_000457.4(HNF4A):c.*167T>A http://identifiers.org/clinvar/311497 ^@ NM_014363.5(SACS):c.13512A>G (p.Ala4504=) http://identifiers.org/clinvar/311547 ^@ NM_014363.5(SACS):c.3615C>T (p.Ile1205=) http://identifiers.org/clinvar/338835 ^@ NM_000782.4(CYP24A1):c.234T>G (p.Gly78=) http://identifiers.org/clinvar/313136 ^@ NM_001079668.2(NKX2-1):c.*185_*186dupCC http://identifiers.org/clinvar/338885 ^@ NM_002591.3(PCK1):c.898C>T (p.Leu300Phe) http://identifiers.org/clinvar/313236 ^@ NM_020937.3(FANCM):c.*546C>G http://identifiers.org/clinvar/339035 ^@ NM_001001433.2(STX16):c.-465T>G http://identifiers.org/clinvar/311747 ^@ NM_015087.4(SPG20):c.*1794A>G http://identifiers.org/clinvar/311797 ^@ NM_000538.3(RFXAP):c.*550T>C http://identifiers.org/clinvar/320557 ^@ NM_021615.4(CHST6):c.*2024C>G http://identifiers.org/clinvar/311847 ^@ NM_001127217.2(SMAD9):c.*2179_*2181delCTT http://identifiers.org/clinvar/320607 ^@ NM_021615.4(CHST6):c.857C>T (p.Ala286Val) http://identifiers.org/clinvar/320707 ^@ NM_022041.3(GAN):c.*2188T>C http://identifiers.org/clinvar/320757 ^@ NM_012213.2(MLYCD):c.*653A>C http://identifiers.org/clinvar/311997 ^@ NM_207361.5(FREM2):c.5677G>A (p.Val1893Ile) http://identifiers.org/clinvar/312147 ^@ NM_020751.2(COG6):c.1693-7_1693-6delTA http://identifiers.org/clinvar/313786 ^@ NM_000347.5(SPTB):c.18G>C (p.Glu6Asp) http://identifiers.org/clinvar/312197 ^@ NM_014252.3(SLC25A15):c.*929G>C http://identifiers.org/clinvar/313836 ^@ NM_152443.2(RDH12):c.-121G>A http://identifiers.org/clinvar/313986 ^@ NM_000021.3(PSEN1):c.*2633G>A http://identifiers.org/clinvar/314086 ^@ NM_031427.3(DNAL1):c.*4226G>A http://identifiers.org/clinvar/321671 ^@ NM_017534.5(MYH2):c.3839C>T (p.Thr1280Ile) http://identifiers.org/clinvar/314186 ^@ NM_005589.3(ALDH6A1):c.112-11G>T http://identifiers.org/clinvar/321721 ^@ NM_002470.3(MYH3):c.5134G>C (p.Glu1712Gln) http://identifiers.org/clinvar/321771 ^@ NM_002470.3(MYH3):c.412G>A (p.Glu138Lys) http://identifiers.org/clinvar/340374 ^@ NM_001849.3(COL6A2):c.2264C>T (p.Thr755Met) http://identifiers.org/clinvar/326709 ^@ NM_173208.2(TGIF1):c.573G>T (p.Ser191=) http://identifiers.org/clinvar/326759 ^@ NM_015559.2(SETBP1):c.4187A>T (p.Lys1396Met) http://identifiers.org/clinvar/326809 ^@ NM_015559.2(SETBP1):c.*3839A>T http://identifiers.org/clinvar/327059 ^@ NM_001080467.2(MYO5B):c.2004-15T>C http://identifiers.org/clinvar/328998 ^@ NM_000540.2(RYR1):c.2676C>T (p.Tyr892=) http://identifiers.org/clinvar/327359 ^@ NM_000140.3(FECH):c.*3601A>G http://identifiers.org/clinvar/329398 ^@ NM_152296.4(ATP1A3):c.*236T>C http://identifiers.org/clinvar/329448 ^@ NM_014297.4(ETHE1):c.-53C>T http://identifiers.org/clinvar/329548 ^@ NM_206900.2(RTN2):c.1162-12delC http://identifiers.org/clinvar/329598 ^@ NM_025136.3(OPA3):c.*4720_*4723dupATAA http://identifiers.org/clinvar/329648 ^@ NM_025136.3(OPA3):c.*1863T>G http://identifiers.org/clinvar/329798 ^@ NM_002103.4(GYS1):c.*472G>A http://identifiers.org/clinvar/330048 ^@ NM_144687.3(NLRP12):c.14C>A (p.Ala5Glu) http://identifiers.org/clinvar/328848 ^@ NM_004646.3(NPHS1):c.*538G>A http://identifiers.org/clinvar/337784 ^@ NM_006363.4(SEC23B):c.-80G>A http://identifiers.org/clinvar/337884 ^@ NM_000361.2(THBD):c.1208G>A (p.Arg403Lys) http://identifiers.org/clinvar/338034 ^@ NM_032609.2(COX4I2):c.231C>T (p.His77=) http://identifiers.org/clinvar/338084 ^@ NM_015338.5(ASXL1):c.1162G>A (p.Val388Ile) http://identifiers.org/clinvar/338134 ^@ NM_015338.5(ASXL1):c.*1153T>C http://identifiers.org/clinvar/329498 ^@ NM_000400.3(ERCC2):c.*152T>C http://identifiers.org/clinvar/338484 ^@ NM_000457.4(HNF4A):c.*2707delT http://identifiers.org/clinvar/338684 ^@ NM_006420.2(ARFGEF2):c.1064C>T (p.Ser355Leu) http://identifiers.org/clinvar/338785 ^@ NM_020436.4(SALL4):c.236C>T (p.Ala79Val) http://identifiers.org/clinvar/329748 ^@ NM_000554.5(CRX):c.*1900delA http://identifiers.org/clinvar/338935 ^@ NM_004738.4(VAPB):c.*200_*214delATGTATAGTAACTGAinsGTTGAGGGGGAAACATTAAAAG http://identifiers.org/clinvar/329898 ^@ NM_007254.3(PNKP):c.-105G>A http://identifiers.org/clinvar/330098 ^@ NM_015629.3(PRPF31):c.564G>A (p.Glu188=) http://identifiers.org/clinvar/339724 ^@ NM_000219.5(KCNE1):c.*2413T>A http://identifiers.org/clinvar/339874 ^@ NM_001754.4(RUNX1):c.1422G>T (p.Glu474Asp) http://identifiers.org/clinvar/339924 ^@ NM_000411.6(HLCS):c.*2285G>A http://identifiers.org/clinvar/339974 ^@ NM_000411.6(HLCS):c.48T>G (p.Ile16Met) http://identifiers.org/clinvar/340024 ^@ NM_020639.2(RIPK4):c.1164G>A (p.Ser388=) http://identifiers.org/clinvar/340074 ^@ NM_000071.2(CBS):c.*472C>T http://identifiers.org/clinvar/337984 ^@ NM_001042472.2(ABHD12):c.*320_*321delAG http://identifiers.org/clinvar/338234 ^@ NM_032034.3(SLC4A11):c.2439T>G (p.Thr813=) http://identifiers.org/clinvar/340324 ^@ NM_001848.2(COL6A1):c.1823-13C>T http://identifiers.org/clinvar/338284 ^@ NM_000687.3(AHCY):c.-63A>G http://identifiers.org/clinvar/338334 ^@ NM_015474.3(SAMHD1):c.*288A>G http://identifiers.org/clinvar/340424 ^@ NM_006657.2(FTCD):c.1166C>G (p.Thr389Arg) http://identifiers.org/clinvar/340474 ^@ NM_006031.5(PCNT):c.1971C>G (p.Asp657Glu) http://identifiers.org/clinvar/339774 ^@ NM_000219.5(KCNE1):c.-57T>C http://identifiers.org/clinvar/339824 ^@ NM_001754.4(RUNX1):c.*2642A>G http://identifiers.org/clinvar/380480 ^@ NM_001080463.1(DYNC2H1):c.12587+17A>G http://identifiers.org/clinvar/390565 ^@ NM_017617.4(NOTCH1):c.1393G>A (p.Ala465Thr) http://identifiers.org/clinvar/390415 ^@ NM_024740.2(ALG9):c.405+8C>A http://identifiers.org/clinvar/390715 ^@ NM_001256024.1(ARHGAP22):c.1186C>T (p.Gln396Ter) http://identifiers.org/clinvar/389965 ^@ NM_004281.3(BAG3):c.788C>T (p.Ala263Val) http://identifiers.org/clinvar/390215 ^@ NM_016204.3(GDF2):c.871G>A (p.Gly291Ser) http://identifiers.org/clinvar/378081 ^@ NM_007078.2(LDB3):c.896+6823C>T http://identifiers.org/clinvar/380129 ^@ NM_002485.4(NBN):c.2234+14C>T http://identifiers.org/clinvar/378536 ^@ NM_174934.3(SCN4B):c.-36C>G http://identifiers.org/clinvar/377729 ^@ NM_000093.4(COL5A1):c.5469G>C (p.Ala1823=) http://identifiers.org/clinvar/378331 ^@ NM_000920.3(PC):c.840C>T (p.Ala280=) http://identifiers.org/clinvar/392704 ^@ NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) http://identifiers.org/clinvar/389815 ^@ NM_000719.6(CACNA1C):c.135C>A (p.Thr45=) http://identifiers.org/clinvar/388026 ^@ NM_006231.3(POLE):c.4291-12C>G http://identifiers.org/clinvar/391904 ^@ NM_000257.3(MYH7):c.2420G>A (p.Arg807His) http://identifiers.org/clinvar/387626 ^@ NM_203447.3(DOCK8):c.2634G>A (p.Arg878=) http://identifiers.org/clinvar/380430 ^@ NM_006231.3(POLE):c.-44C>A http://identifiers.org/clinvar/384026 ^@ NM_000719.6(CACNA1C):c.4128G>A (p.Val1376=) http://identifiers.org/clinvar/380831 ^@ NM_004984.2(KIF5A):c.2023+18C>T http://identifiers.org/clinvar/387376 ^@ NM_000075.3(CDK4):c.660C>T (p.Ala220=) http://identifiers.org/clinvar/391454 ^@ NM_004572.3(PKP2):c.2578-9A>T http://identifiers.org/clinvar/392004 ^@ NM_000264.3(PTCH1):c.4087G>A (p.Gly1363Ser) http://identifiers.org/clinvar/392554 ^@ NM_201590.2(CACNB2):c.-79601C>A http://identifiers.org/clinvar/381182 ^@ NM_001013703.3(EIF2AK4):c.3916G>T (p.Gly1306Cys) http://identifiers.org/clinvar/377579 ^@ NM_000059.3(BRCA2):c.2819A>G (p.Gln940Arg) http://identifiers.org/clinvar/384126 ^@ NM_000059.3(BRCA2):c.3513A>G (p.Pro1171=) http://identifiers.org/clinvar/384677 ^@ NM_144670.5(A2ML1):c.1275A>G (p.Val425=) http://identifiers.org/clinvar/393254 ^@ NM_000257.3(MYH7):c.2149G>A (p.Asp717Asn) http://identifiers.org/clinvar/380730 ^@ NM_002474.2(MYH11):c.1923C>T (p.Ser641=) http://identifiers.org/clinvar/383725 ^@ NM_022489.3(INF2):c.1887+8C>T http://identifiers.org/clinvar/379778 ^@ NM_000138.4(FBN1):c.7465T>C (p.Cys2489Arg) http://identifiers.org/clinvar/389615 ^@ NM_001876.3(CPT1A):c.1461C>T (p.Tyr487=) http://identifiers.org/clinvar/387176 ^@ NM_005472.4(KCNE3):c.21G>A (p.Thr7=) http://identifiers.org/clinvar/387426 ^@ NM_024079.4(ALG8):c.1117T>C (p.Ser373Pro) http://identifiers.org/clinvar/377979 ^@ NM_213595.3(ISCU):c.52C>A (p.Leu18Met) http://identifiers.org/clinvar/389765 ^@ NM_002693.2(POLG):c.1433+14G>A http://identifiers.org/clinvar/387776 ^@ NM_002834.4(PTPN11):c.1023T>C (p.Phe341=) http://identifiers.org/clinvar/384076 ^@ NM_000548.4(TSC2):c.2030C>T (p.Pro677Leu) http://identifiers.org/clinvar/384426 ^@ NM_000548.4(TSC2):c.2742+14C>T http://identifiers.org/clinvar/366 ^@ NM_000267.3(NF1):c.945_946delGCinsAA (p.Leu316Met) http://identifiers.org/clinvar/380 ^@ NM_000308.3(CTSA):c.1238A>G (p.Tyr413Cys) http://identifiers.org/clinvar/394 ^@ NM_000405.4(GM2A):c.160G>T (p.Glu54Ter) http://identifiers.org/clinvar/603 ^@ NM_000277.1(PAH):c.829T>G (p.Tyr277Asp) http://identifiers.org/clinvar/658 ^@ PROC, ARG12TRP http://identifiers.org/clinvar/667 ^@ NM_000312.3(PROC):c.866C>T (p.Pro289Leu) http://identifiers.org/clinvar/757 ^@ NM_015575.3(GIGYF2):c.1262A>G (p.Lys421Arg) http://identifiers.org/clinvar/766 ^@ NM_015702.2(MMADHC):c.307_324dup18 (p.Ser108_Ser109insLeuAlaGluProLeuSer) http://identifiers.org/clinvar/798 ^@ NM_000038.5(APC):c.904C>T (p.Arg302Ter) http://identifiers.org/clinvar/816 ^@ NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) http://identifiers.org/clinvar/839 ^@ NM_000038.5(APC):c.622C>T (p.Gln208Ter) http://identifiers.org/clinvar/867 ^@ NM_000507.3(FBP1):c.960_961insG (p.Ser321Valfs) http://identifiers.org/clinvar/2008 ^@ SGCG, 1-BP INS, 87T http://identifiers.org/clinvar/2053 ^@ NM_152443.2(RDH12):c.688C>G (p.Pro230Ala) http://identifiers.org/clinvar/2099 ^@ PC, 2-BP DEL, 2491GT http://identifiers.org/clinvar/2144 ^@ NM_015384.4(NIPBL):c.3616_3618delATA (p.Ile1206del) http://identifiers.org/clinvar/2372 ^@ NM_213653.3(HFE2):c.982_985delTCTC (p.Ser328Aspfs) http://identifiers.org/clinvar/2418 ^@ CPS1, 9-BP DEL http://identifiers.org/clinvar/2463 ^@ NM_000026.3(ADSL):c.298C>G (p.Pro100Ala) http://identifiers.org/clinvar/2509 ^@ NM_000346.3(SOX9):c.736dupC (p.Gln246Profs) http://identifiers.org/clinvar/2557 ^@ NM_000243.2(MEFV):c.1432C>T (p.His478Tyr) http://identifiers.org/clinvar/3290 ^@ NM_000268.3(NF2):c.784C>T (p.Arg262Ter) http://identifiers.org/clinvar/3335 ^@ NM_203288.1(RP9):c.509A>G (p.Asp170Gly) http://identifiers.org/clinvar/12933 ^@ NM_003052.4(SLC34A1):c.460_480dup21 (p.Val160_Gln161insIleLeuValThrValLeuVal) http://identifiers.org/clinvar/12984 ^@ NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) http://identifiers.org/clinvar/13034 ^@ NM_000539.3(RHO):c.800C>T (p.Pro267Leu) http://identifiers.org/clinvar/13086 ^@ NM_000321.2(RB1):c.-198G>A http://identifiers.org/clinvar/13136 ^@ NM_000536.3(RAG2):c.115A>G (p.Arg39Gly) http://identifiers.org/clinvar/13187 ^@ RDX, IVS7DS, G-A, +1 http://identifiers.org/clinvar/13238 ^@ PRKCSH, IVS16AS, A-G, -2 http://identifiers.org/clinvar/13289 ^@ NM_000141.4(FGFR2):c.943G>T (p.Ala315Ser) http://identifiers.org/clinvar/13340 ^@ NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) http://identifiers.org/clinvar/13393 ^@ PHB:c.*729C>T http://identifiers.org/clinvar/13445 ^@ NM_000371.3(TTR):c.272T>C (p.Val91Ala) http://identifiers.org/clinvar/13496 ^@ NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) http://identifiers.org/clinvar/13546 ^@ NM_006206.4(PDGFRA):c.1682T>A (p.Val561Asp) http://identifiers.org/clinvar/36659 ^@ NM_004387.3(NKX2-5):c.543G>C (p.Gln181His) http://identifiers.org/clinvar/36712 ^@ NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) http://identifiers.org/clinvar/36765 ^@ NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) http://identifiers.org/clinvar/36815 ^@ NM_000545.6(HNF1A):c.252C>T (p.Pro84=) http://identifiers.org/clinvar/36865 ^@ NM_003242.5(TGFBR2):c.1266A>G (p.Ala422=) http://identifiers.org/clinvar/36917 ^@ NM_001849.3(COL6A2):c.1771-1G>T http://identifiers.org/clinvar/37011 ^@ NM_153033.4(KCTD7):c.818A>T (p.Asn273Ile) http://identifiers.org/clinvar/37092 ^@ NM_005543.3(INSL3):c.217C>T (p.Arg73Ter) http://identifiers.org/clinvar/37208 ^@ NM_032806.5(POMGNT2):c.473G>A (p.Arg158His) http://identifiers.org/clinvar/37306 ^@ NM_006129.4(BMP1):c.747C>G (p.Phe249Leu) http://identifiers.org/clinvar/40566 ^@ NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) http://identifiers.org/clinvar/40629 ^@ NM_002880.3(RAF1):c.*2T>G http://identifiers.org/clinvar/40710 ^@ NM_002755.3(MAP2K1):c.-31dupC http://identifiers.org/clinvar/40802 ^@ NM_030662.3(MAP2K2):c.498C>T (p.Pro166=) http://identifiers.org/clinvar/40992 ^@ NM_000095.2(COMP):c.1747G>A (p.Glu583Lys) http://identifiers.org/clinvar/41052 ^@ NM_003611.2:c.1051-2>G http://identifiers.org/clinvar/41107 ^@ NM_003611.2(OFD1):c.290A>G (p.Glu97Gly) http://identifiers.org/clinvar/41161 ^@ NM_003977.3(AIP):c.100-1025_279+357del1562 http://identifiers.org/clinvar/41214 ^@ NM_003977.3(AIP):c.896C>T (p.Ala299Val) http://identifiers.org/clinvar/51172 ^@ NM_000059.3(BRCA2):c.1672delA (p.Ile558Leufs) http://identifiers.org/clinvar/51223 ^@ NM_000059.3(BRCA2):c.1901delC (p.Ala634Valfs) http://identifiers.org/clinvar/51275 ^@ NM_000059.3(BRCA2):c.2399G>T (p.Gly800Val) http://identifiers.org/clinvar/51326 ^@ NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) http://identifiers.org/clinvar/51376 ^@ NM_000059.3(BRCA2):c.2950G>T (p.Glu984Ter) http://identifiers.org/clinvar/51426 ^@ NM_000059.3(BRCA2):c.3226_3230delGTAGT (p.Val1076Cysfs) http://identifiers.org/clinvar/51478 ^@ NM_000059.3(BRCA2):c.3500_3501delTA (p.Ile1167Asnfs) http://identifiers.org/clinvar/51529 ^@ NM_000059.3(BRCA2):c.3812C>A (p.Ser1271Ter) http://identifiers.org/clinvar/51581 ^@ NM_000059.3(BRCA2):c.4005dupA (p.Phe1336Ilefs) http://identifiers.org/clinvar/51633 ^@ NM_000059.3(BRCA2):c.4325C>A (p.Ser1442Ter) http://identifiers.org/clinvar/51683 ^@ NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) http://identifiers.org/clinvar/51735 ^@ NM_000059.3(BRCA2):c.4894_4895delAG (p.Ser1632Tyrfs) http://identifiers.org/clinvar/51787 ^@ NM_000059.3(BRCA2):c.516+1G>C http://identifiers.org/clinvar/51838 ^@ NM_000059.3(BRCA2):c.5298T>C (p.Asn1766=) http://identifiers.org/clinvar/51891 ^@ NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) http://identifiers.org/clinvar/51943 ^@ NM_000059.3(BRCA2):c.581G>A (p.Trp194Ter) http://identifiers.org/clinvar/51995 ^@ NM_000059.3(BRCA2):c.6037A>G (p.Lys2013Glu) http://identifiers.org/clinvar/52046 ^@ NM_000059.3(BRCA2):c.6281A>G (p.Tyr2094Cys) http://identifiers.org/clinvar/52100 ^@ NM_000059.3(BRCA2):c.6445_6446delAT (p.Ile2149Terfs) http://identifiers.org/clinvar/52151 ^@ NM_000059.3(BRCA2):c.6665A>G (p.Tyr2222Cys) http://identifiers.org/clinvar/52201 ^@ NM_000059.3(BRCA2):c.6826C>A (p.Pro2276Thr) http://identifiers.org/clinvar/52849 ^@ NM_000059.3(BRCA2):c.9498delT (p.Glu3167Argfs) http://identifiers.org/clinvar/52899 ^@ NM_000059.3(BRCA2):c.979A>G (p.Lys327Glu) http://identifiers.org/clinvar/52949 ^@ NM_000218.2(KCNQ1):c.1073_1078delAGCAGA (p.Lys358_Gln359del) http://identifiers.org/clinvar/52999 ^@ NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) http://identifiers.org/clinvar/53049 ^@ NM_000218.2(KCNQ1):c.478G>A (p.Glu160Lys) http://identifiers.org/clinvar/53099 ^@ NM_000218.2(KCNQ1):c.773A>G (p.His258Arg) http://identifiers.org/clinvar/53150 ^@ NM_000218.2(KCNQ1):c.965C>A (p.Thr322Lys) http://identifiers.org/clinvar/53203 ^@ NM_000492.3(CFTR):c.1152_1153dupAT (p.Asn386Ilefs) http://identifiers.org/clinvar/53255 ^@ NM_000492.3(CFTR):c.1439G>A (p.Gly480Asp) http://identifiers.org/clinvar/53306 ^@ NM_000492.3(CFTR):c.164+2T>C http://identifiers.org/clinvar/53356 ^@ NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser) http://identifiers.org/clinvar/53406 ^@ NM_000492.3(CFTR):c.1859A>C (p.His620Pro) http://identifiers.org/clinvar/53458 ^@ NM_000492.3(CFTR):c.2240_2247delCGATACTG (p.Ile748Serfs) http://identifiers.org/clinvar/53511 ^@ NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu) http://identifiers.org/clinvar/53561 ^@ NM_000492.3(CFTR):c.2758G>A (p.Val920Met) http://identifiers.org/clinvar/53611 ^@ NM_000492.3(CFTR):c.2977G>T (p.Asp993Tyr) http://identifiers.org/clinvar/53663 ^@ NM_000492.3(CFTR):c.3140-649_3140-54del596 http://identifiers.org/clinvar/53714 ^@ NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) http://identifiers.org/clinvar/53765 ^@ NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) http://identifiers.org/clinvar/53817 ^@ NM_000492.3(CFTR):c.3822G>A (p.Trp1274Ter) http://identifiers.org/clinvar/53869 ^@ NM_000492.3(CFTR):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/53920 ^@ NM_000492.3(CFTR):c.4202A>C (p.Glu1401Ala) http://identifiers.org/clinvar/53970 ^@ NM_000492.3(CFTR):c.489+2T>G http://identifiers.org/clinvar/54020 ^@ NM_000492.3(CFTR):c.597T>G (p.His199Gln) http://identifiers.org/clinvar/54072 ^@ NM_000492.3(CFTR):c.861_865delCTTAA (p.Asn287Lysfs) http://identifiers.org/clinvar/54122 ^@ NM_007294.3(BRCA1):c.1082_1092delCAGAGAATCCT (p.Ser361Terfs) http://identifiers.org/clinvar/54172 ^@ NM_007294.3(BRCA1):c.124A>G (p.Ile42Val) http://identifiers.org/clinvar/54222 ^@ NM_007294.3(BRCA1):c.1367T>C (p.Ile456Thr) http://identifiers.org/clinvar/54273 ^@ NM_007294.3(BRCA1):c.1506_1510delAAAGC (p.Lys503Terfs) http://identifiers.org/clinvar/54323 ^@ NM_007294.3(BRCA1):c.1676G>T (p.Gly559Val) http://identifiers.org/clinvar/54624 ^@ NM_007294.3(BRCA1):c.2635G>A (p.Glu879Lys) http://identifiers.org/clinvar/54674 ^@ NM_007294.3(BRCA1):c.2762delA (p.Gln921Argfs) http://identifiers.org/clinvar/54724 ^@ NM_007294.3(BRCA1):c.292G>C (p.Gly98Arg) http://identifiers.org/clinvar/54774 ^@ NM_007294.3(BRCA1):c.3125_3134delGCAATATTAA (p.Ser1042Metfs) http://identifiers.org/clinvar/55623 ^@ NM_007294.3(BRCA1):c.5548delC (p.Leu1850Trpfs) http://identifiers.org/clinvar/55675 ^@ NM_007294.3(BRCA1):c.70_73dupTGTC (p.Pro25Leufs) http://identifiers.org/clinvar/55726 ^@ NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) http://identifiers.org/clinvar/55777 ^@ NM_007294.3(BRCA1):c.996G>T (p.Arg332=) http://identifiers.org/clinvar/55855 ^@ NM_001376.4(DYNC1H1):c.10031G>A (p.Arg3344Gln) http://identifiers.org/clinvar/55931 ^@ NM_153704.5(TMEM67):c.2754_2756delCTT (p.Phe919del) http://identifiers.org/clinvar/55985 ^@ NM_000111.2(SLC26A3):c.1631T>A (p.Ile544Asn) http://identifiers.org/clinvar/56038 ^@ NM_000170.2(GLDC):c.1111C>G (p.His371Asp) http://identifiers.org/clinvar/56089 ^@ NM_000170.2(GLDC):c.2846C>T (p.Pro949Leu) http://identifiers.org/clinvar/56143 ^@ NM_000310.3(PPT1):c.114G>A (p.Trp38Ter) http://identifiers.org/clinvar/56194 ^@ NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) http://identifiers.org/clinvar/56245 ^@ NM_001042432.1(CLN3):c.1048delC (p.Leu350Cysfs) http://identifiers.org/clinvar/56295 ^@ NM_001042432.1(CLN3):c.979C>T (p.Gln327Ter) http://identifiers.org/clinvar/56347 ^@ NM_001126105.2(SLC7A7):c.1013G>A (p.Gly338Asp) http://identifiers.org/clinvar/56398 ^@ NM_004260.3(RECQL4):c.1390+2delT http://identifiers.org/clinvar/56449 ^@ NM_004646.3(NPHS1):c.1758-15_1778del36 http://identifiers.org/clinvar/56499 ^@ NM_004646.3(NPHS1):c.3388-2A>G http://identifiers.org/clinvar/56550 ^@ NM_007035.3(KERA):c.835C>T (p.Arg279Ter) http://identifiers.org/clinvar/56603 ^@ NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) http://identifiers.org/clinvar/56658 ^@ NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) http://identifiers.org/clinvar/56708 ^@ NM_018941.3(CLN8):c.464C>T (p.Ala155Val) http://identifiers.org/clinvar/56758 ^@ NM_030943.3(AMN):c.701G>T (p.Cys234Phe) http://identifiers.org/clinvar/56835 ^@ NM_000497.3(CYP11B1):c.995G>A (p.Arg332Gln) http://identifiers.org/clinvar/57018 ^@ GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 http://identifiers.org/clinvar/57072 ^@ GRCh38/hg38 5q21.2-21.3(chr5:104482674-105488260)x3 http://identifiers.org/clinvar/57127 ^@ GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 http://identifiers.org/clinvar/102469 ^@ NM_000277.1(PAH):c.1019T>C (p.Ile340Thr) http://identifiers.org/clinvar/111258 ^@ NM_005534.3(IFNGR2):c.880-135_880-113dup23 http://identifiers.org/clinvar/120216 ^@ NM_001346873.1(RUBCN):c.2741delC (p.Ala914Valfs) http://identifiers.org/clinvar/120270 ^@ NM_000277.1(PAH):c.196G>T (p.Glu66Ter) http://identifiers.org/clinvar/120320 ^@ NM_004996.3(ABCC1):c.809+16C>T http://identifiers.org/clinvar/125481 ^@ NM_007294.3(BRCA1):c.984_985insC (p.Asn329Glnfs) http://identifiers.org/clinvar/125557 ^@ NM_007294.3(BRCA1):c.2356C>T (p.Leu786=) http://identifiers.org/clinvar/160905 ^@ GRCh38/hg38 Xq13.3(chrX:75243922-75372926)x4 http://identifiers.org/clinvar/160957 ^@ GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1 http://identifiers.org/clinvar/161008 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1 http://identifiers.org/clinvar/161058 ^@ GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 http://identifiers.org/clinvar/161108 ^@ NM_030777.3(SLC2A10):c.737G>A (p.Gly246Glu) http://identifiers.org/clinvar/161158 ^@ NM_004963.3(GUCY2C):c.2008G>A (p.Ala670Thr) http://identifiers.org/clinvar/161340 ^@ NM_000312.3(PROC):c.1010C>T (p.Thr337Ile) http://identifiers.org/clinvar/161391 ^@ NM_000337.5(SGCD):c.226G>T (p.Gly76Cys) http://identifiers.org/clinvar/161240 ^@ NM_000138.4(FBN1):c.8081G>A (p.Arg2694Gln) http://identifiers.org/clinvar/161290 ^@ NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) http://identifiers.org/clinvar/161659 ^@ NM_012090.5(MACF1):c.6753-2_6754delAGAG http://identifiers.org/clinvar/161609 ^@ NM_003243.4(TGFBR3):c.2519C>T (p.Thr840Met) http://identifiers.org/clinvar/161459 ^@ NM_000110.3(DPYD):c.1340-3C>G http://identifiers.org/clinvar/161809 ^@ NM_145263.3(SPATA18):c.991G>A (p.Val331Ile) http://identifiers.org/clinvar/161509 ^@ NM_001080.3(ALDH5A1):c.1608G>C (p.Ter536Tyr) http://identifiers.org/clinvar/161559 ^@ NM_001191059.3(PDE1C):c.335G>A (p.Arg112Gln) http://identifiers.org/clinvar/161759 ^@ NM_022169.4(ABCG4):c.237G>T (p.Arg79Ser) http://identifiers.org/clinvar/161859 ^@ NM_207117.2(SLC25A47):c.56C>T (p.Pro19Leu) http://identifiers.org/clinvar/161709 ^@ NM_017653.3(DYM):c.1614C>G (p.Ile538Met) http://identifiers.org/clinvar/162038 ^@ NM_000138.4(FBN1):c.1156_1167delAACAAGCTGTGC (p.Asn386_Cys389del) http://identifiers.org/clinvar/162094 ^@ NM_020987.4(ANK3):c.2902G>C (p.Asp968His) http://identifiers.org/clinvar/162158 ^@ NM_001396.3(DYRK1A):c.1309C>T (p.Arg437Ter) http://identifiers.org/clinvar/162221 ^@ NM_001987.4(ETV6):c.1106G>A (p.Arg369Gln) http://identifiers.org/clinvar/162432 ^@ NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) http://identifiers.org/clinvar/162503 ^@ NM_007294.3(BRCA1):c.4358-2786G>A http://identifiers.org/clinvar/162583 ^@ NM_000426.3(LAMA2):c.9211+6T>C http://identifiers.org/clinvar/163870 ^@ NM_170707.3(LMNA):c.1122C>T (p.His374=) http://identifiers.org/clinvar/166425 ^@ NM_206933.2(USH2A):c.14108T>C (p.Leu4703Ser) http://identifiers.org/clinvar/177655 ^@ NM_001001430.2(TNNT2):c.780+6C>T http://identifiers.org/clinvar/177807 ^@ NM_001001430.2(TNNT2):c.330T>G (p.Phe110Leu) http://identifiers.org/clinvar/178609 ^@ NM_024009.2(GJB3):c.567C>T (p.Tyr189=) http://identifiers.org/clinvar/165719 ^@ NM_133378.4(TTN):c.86640_86643delAGAA (p.Lys28880Asnfs) http://identifiers.org/clinvar/165879 ^@ NM_001256850.1(TTN):c.62885C>T (p.Ala20962Val) http://identifiers.org/clinvar/166533 ^@ NM_007123.5(USH2A):c.485+12T>C http://identifiers.org/clinvar/178159 ^@ NM_001256850.1(TTN):c.96358C>T (p.Arg32120Trp) http://identifiers.org/clinvar/178209 ^@ NM_001256850.1(TTN):c.42005A>G (p.His14002Arg) http://identifiers.org/clinvar/166218 ^@ NM_133378.4(TTN):c.11820C>T (p.Thr3940=) http://identifiers.org/clinvar/178259 ^@ NM_001256850.1(TTN):c.10632C>T (p.Thr3544=) http://identifiers.org/clinvar/166050 ^@ NM_133378.4(TTN):c.36400G>C (p.Asp12134His) http://identifiers.org/clinvar/166271 ^@ NM_133379.4(TTN):c.12550G>T (p.Gly4184Cys) http://identifiers.org/clinvar/178509 ^@ NM_194248.2(OTOF):c.2991+2T>G http://identifiers.org/clinvar/165376 ^@ NM_198253.2(TERT):c.3105C>T (p.Val1035=) http://identifiers.org/clinvar/166321 ^@ NM_001267550.2(TTN):c.4269_4298del30 (p.Ala1430_Pro1439del) http://identifiers.org/clinvar/177907 ^@ NM_194248.2(OTOF):c.632G>A (p.Arg211Gln) http://identifiers.org/clinvar/165160 ^@ NM_198056.2(SCN5A):c.255delC (p.Phe86Serfs) http://identifiers.org/clinvar/165965 ^@ NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) http://identifiers.org/clinvar/179967 ^@ NM_024334.2(TMEM43):c.13T>C (p.Tyr5His) http://identifiers.org/clinvar/166609 ^@ NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) http://identifiers.org/clinvar/178359 ^@ NM_032119.3(ADGRV1):c.3956G>A (p.Arg1319Gln) http://identifiers.org/clinvar/198425 ^@ NM_000503.5(EYA1):c.548A>G (p.Gln183Arg) http://identifiers.org/clinvar/198529 ^@ NM_005270.4(GLI2):c.1121G>A (p.Arg374His) http://identifiers.org/clinvar/198683 ^@ NM_000018.3(ACADVL):c.637G>A (p.Ala213Thr) http://identifiers.org/clinvar/198738 ^@ NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) http://identifiers.org/clinvar/198790 ^@ NM_004260.3(RECQL4):c.1391-4G>T http://identifiers.org/clinvar/198843 ^@ NM_006516.2(SLC2A1):c.1016T>C (p.Ile339Thr) http://identifiers.org/clinvar/198897 ^@ NM_020822.2(KCNT1):c.675+4G>C http://identifiers.org/clinvar/217357 ^@ NM_003159.2(CDKL5):c.1897C>T (p.Gln633Ter) http://identifiers.org/clinvar/200946 ^@ NM_170707.3(LMNA):c.1567G>C (p.Gly523Arg) http://identifiers.org/clinvar/201195 ^@ NM_001035.2(RYR2):c.527G>T (p.Arg176Leu) http://identifiers.org/clinvar/201251 ^@ NM_001035.2(RYR2):c.4828C>T (p.Arg1610Ter) http://identifiers.org/clinvar/201305 ^@ NM_001035.2(RYR2):c.10640C>T (p.Thr3547Met) http://identifiers.org/clinvar/201361 ^@ NM_001035.2(RYR2):c.14704C>T (p.Pro4902Ser) http://identifiers.org/clinvar/201127 ^@ NM_174936.3(PCSK9):c.644G>A (p.Arg215His) http://identifiers.org/clinvar/201531 ^@ NM_198056.2(SCN5A):c.5185G>A (p.Asp1729Asn) http://identifiers.org/clinvar/201588 ^@ NM_198056.2(SCN5A):c.4299+6T>C http://identifiers.org/clinvar/201472 ^@ NM_198056.2(SCN5A):c.2291T>C (p.Met764Thr) http://identifiers.org/clinvar/201418 ^@ NM_198056.2(SCN5A):c.2253C>T (p.Val751=) http://identifiers.org/clinvar/200492 ^@ NM_000238.3(KCNH2):c.2770G>A (p.Gly924Arg) http://identifiers.org/clinvar/200739 ^@ NM_000238.3(KCNH2):c.1754G>T (p.Trp585Leu) http://identifiers.org/clinvar/200630 ^@ NM_000238.3(KCNH2):c.1201_1204dupCTGC (p.His402Profs) http://identifiers.org/clinvar/200323 ^@ NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) http://identifiers.org/clinvar/200831 ^@ NM_000218.2(KCNQ1):c.974G>A (p.Gly325Glu) http://identifiers.org/clinvar/200885 ^@ NM_000218.2(KCNQ1):c.1029_1031dupAGC (p.Ala344_Gly345insAla) http://identifiers.org/clinvar/201022 ^@ NM_000244.3(MEN1):c.1617_1633dup17 (p.Pro545Argfs) http://identifiers.org/clinvar/200205 ^@ NM_000138.4(FBN1):c.3401dupG (p.Ser1135Lysfs) http://identifiers.org/clinvar/200150 ^@ NM_000138.4(FBN1):c.2058_2063delCAGCAC (p.Ser687_Thr688del) http://identifiers.org/clinvar/201076 ^@ NM_002474.2(MYH11):c.4403C>T (p.Ala1468Val) http://identifiers.org/clinvar/201645 ^@ NM_001103.3(ACTN2):c.1985G>A (p.Arg662Gln) http://identifiers.org/clinvar/201919 ^@ NM_144573.3(NEXN):c.856C>T (p.Arg286Trp) http://identifiers.org/clinvar/201700 ^@ NM_001927.3(DES):c.680G>A (p.Arg227His) http://identifiers.org/clinvar/201811 ^@ NM_002230.2(JUP):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/201864 ^@ NM_033118.3(MYLK2):c.331C>T (p.Pro111Ser) http://identifiers.org/clinvar/201755 ^@ NM_004006.2(DMD):c.6052C>A (p.Leu2018Ile) http://identifiers.org/clinvar/203035 ^@ NM_001256850.1(TTN):c.93050G>A (p.Arg31017Gln) http://identifiers.org/clinvar/202985 ^@ NM_001256850.1(TTN):c.86552A>G (p.Tyr28851Cys) http://identifiers.org/clinvar/202935 ^@ NM_001256850.1(TTN):c.81574_81575delGCinsTT (p.Ala27192Phe) http://identifiers.org/clinvar/202885 ^@ NM_001256850.1(TTN):c.73172G>T (p.Arg24391Ile) http://identifiers.org/clinvar/230474 ^@ NM_000038.5(APC):c.4376C>G (p.Thr1459Ser) http://identifiers.org/clinvar/231413 ^@ NM_005732.3(RAD50):c.1193A>G (p.Lys398Arg) http://identifiers.org/clinvar/232263 ^@ NM_005732.3(RAD50):c.3182A>G (p.Glu1061Gly) http://identifiers.org/clinvar/233264 ^@ NM_000535.6(PMS2):c.311T>C (p.Phe104Ser) http://identifiers.org/clinvar/234206 ^@ NM_002485.4(NBN):c.1122A>G (p.Thr374=) http://identifiers.org/clinvar/233906 ^@ NM_000051.3(ATM):c.156A>C (p.Gly52=) http://identifiers.org/clinvar/232113 ^@ NM_000051.3(ATM):c.2036G>T (p.Gly679Val) http://identifiers.org/clinvar/231963 ^@ NM_000051.3(ATM):c.2619A>G (p.Gly873=) http://identifiers.org/clinvar/233114 ^@ NM_000051.3(ATM):c.2839-5C>A http://identifiers.org/clinvar/232213 ^@ NM_000051.3(ATM):c.4002C>T (p.His1334=) http://identifiers.org/clinvar/232313 ^@ NM_000051.3(ATM):c.7847T>C (p.Met2616Thr) http://identifiers.org/clinvar/230424 ^@ NM_000051.3(ATM):c.8915A>G (p.Gln2972Arg) http://identifiers.org/clinvar/233164 ^@ NM_000051.3(ATM):c.9021dupA (p.Arg3008Thrfs) http://identifiers.org/clinvar/234106 ^@ NM_005591.3(MRE11):c.986C>G (p.Thr329Ser) http://identifiers.org/clinvar/234156 ^@ NM_000059.3(BRCA2):c.2022A>G (p.Glu674=) http://identifiers.org/clinvar/233064 ^@ NM_000059.3(BRCA2):c.3120T>A (p.Thr1040=) http://identifiers.org/clinvar/232463 ^@ NM_000059.3(BRCA2):c.3281A>G (p.Lys1094Arg) http://identifiers.org/clinvar/232363 ^@ NM_000059.3(BRCA2):c.3983G>C (p.Ser1328Thr) http://identifiers.org/clinvar/232764 ^@ NM_000059.3(BRCA2):c.4177dupG (p.Ala1393Glyfs) http://identifiers.org/clinvar/232914 ^@ NM_000059.3(BRCA2):c.4450G>A (p.Asp1484Asn) http://identifiers.org/clinvar/230374 ^@ NM_000059.3(BRCA2):c.5724A>G (p.Leu1908=) http://identifiers.org/clinvar/231913 ^@ NM_000059.3(BRCA2):c.6918T>C (p.Ala2306=) http://identifiers.org/clinvar/234006 ^@ NM_000059.3(BRCA2):c.7884A>G (p.Ile2628Met) http://identifiers.org/clinvar/233014 ^@ NM_000059.3(BRCA2):c.8055A>T (p.Thr2685=) http://identifiers.org/clinvar/232013 ^@ NM_000548.4(TSC2):c.2820C>G (p.Leu940=) http://identifiers.org/clinvar/233364 ^@ NM_024675.3(PALB2):c.2504C>T (p.Ser835Phe) http://identifiers.org/clinvar/233314 ^@ NM_004360.4(CDH1):c.1776C>T (p.Ala592=) http://identifiers.org/clinvar/232714 ^@ NM_001042492.2(NF1):c.3303G>A (p.Gln1101=) http://identifiers.org/clinvar/232814 ^@ NM_001042492.2(NF1):c.6586A>G (p.Thr2196Ala) http://identifiers.org/clinvar/232063 ^@ NM_001042492.2(NF1):c.7635T>A (p.Asp2545Glu) http://identifiers.org/clinvar/232563 ^@ NM_002878.3(RAD51D):c.51C>T (p.Ile17=) http://identifiers.org/clinvar/231563 ^@ NM_007294.3(BRCA1):c.4048G>T (p.Gly1350Cys) http://identifiers.org/clinvar/231463 ^@ NM_007294.3(BRCA1):c.1891C>A (p.Leu631Ile) http://identifiers.org/clinvar/232413 ^@ NM_007294.3(BRCA1):c.1386G>A (p.Gly462=) http://identifiers.org/clinvar/232614 ^@ NM_058216.2(RAD51C):c.914G>A (p.Trp305Ter) http://identifiers.org/clinvar/232864 ^@ NM_032043.2(BRIP1):c.3435A>C (p.Glu1145Asp) http://identifiers.org/clinvar/232964 ^@ NM_032043.2(BRIP1):c.3411_3420delTGATCCTGAA (p.Tyr1137Terfs) http://identifiers.org/clinvar/231863 ^@ NM_032043.2(BRIP1):c.2435C>G (p.Pro812Arg) http://identifiers.org/clinvar/232664 ^@ NM_032043.2(BRIP1):c.684G>A (p.Glu228=) http://identifiers.org/clinvar/233956 ^@ NM_000546.5(TP53):c.282A>G (p.Ser94=) http://identifiers.org/clinvar/232513 ^@ NM_007194.3(CHEK2):c.1491T>C (p.Asp497=) http://identifiers.org/clinvar/232163 ^@ NM_007194.3(CHEK2):c.1200G>A (p.Gly400=) http://identifiers.org/clinvar/234980 ^@ NM_001148.4(ANK2):c.9427C>G (p.Leu3143Val) http://identifiers.org/clinvar/235031 ^@ NM_000257.3(MYH7):c.2609G>T (p.Arg870Leu) http://identifiers.org/clinvar/235081 ^@ NM_033163.3(FGF8):c.356C>T (p.Thr119Met) http://identifiers.org/clinvar/235216 ^@ NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) http://identifiers.org/clinvar/235270 ^@ NM_001080463.1(DYNC2H1):c.11671-1G>A http://identifiers.org/clinvar/235324 ^@ NM_004509.3(SP110):c.1100C>T (p.Thr367Met) http://identifiers.org/clinvar/235377 ^@ NM_001004127.2(ALG11):c.173A>T (p.Asn58Ile) http://identifiers.org/clinvar/235431 ^@ NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) http://identifiers.org/clinvar/235485 ^@ NM_005334.2(HCFC1):c.5374G>T (p.Gly1792Cys) http://identifiers.org/clinvar/235538 ^@ NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) http://identifiers.org/clinvar/240293 ^@ NM_006172.3(NPPA):c.253G>A (p.Gly85Arg) http://identifiers.org/clinvar/239442 ^@ NM_003000.2(SDHB):c.723C>T (p.Tyr241=) http://identifiers.org/clinvar/237849 ^@ NM_000488.3(SERPINC1):c.399A>C (p.Gln133His) http://identifiers.org/clinvar/238299 ^@ NM_001103.3(ACTN2):c.2181G>T (p.Leu727=) http://identifiers.org/clinvar/238349 ^@ NM_001128425.1(MUTYH):c.66G>A (p.Val22=) http://identifiers.org/clinvar/238199 ^@ NM_000969.3(RPL5):c.326T>C (p.Leu109Pro) http://identifiers.org/clinvar/237749 ^@ NM_000384.2(APOB):c.7036G>A (p.Glu2346Lys) http://identifiers.org/clinvar/239792 ^@ NM_004304.4(ALK):c.1067A>G (p.Gln356Arg) http://identifiers.org/clinvar/239842 ^@ NM_004304.4(ALK):c.469C>T (p.Pro157Ser) http://identifiers.org/clinvar/239139 ^@ NM_002354.2(EPCAM):c.74A>T (p.Glu25Val) http://identifiers.org/clinvar/237398 ^@ NM_000251.2(MSH2):c.431C>G (p.Ser144Cys) http://identifiers.org/clinvar/237147 ^@ NM_000179.2(MSH6):c.1878G>C (p.Gln626His) http://identifiers.org/clinvar/237198 ^@ NM_000179.2(MSH6):c.3772C>G (p.Gln1258Glu) http://identifiers.org/clinvar/237348 ^@ NM_000249.3(MLH1):c.826dupA (p.Ile276Asnfs) http://identifiers.org/clinvar/240092 ^@ NM_005051.2(QARS):c.933A>G (p.Glu311=) http://identifiers.org/clinvar/240042 ^@ NM_004656.3(BAP1):c.1147C>T (p.Arg383Cys) http://identifiers.org/clinvar/239592 ^@ NM_003924.3(PHOX2B):c.750G>A (p.Ala250=) http://identifiers.org/clinvar/240343 ^@ NM_006206.4(PDGFRA):c.3156G>A (p.Thr1052=) http://identifiers.org/clinvar/237248 ^@ NM_000222.2(KIT):c.1594G>A (p.Val532Ile) http://identifiers.org/clinvar/239089 ^@ NM_001999.3(FBN2):c.6269C>T (p.Ser2090Phe) http://identifiers.org/clinvar/240243 ^@ NM_005732.3(RAD50):c.3897T>A (p.Ile1299=) http://identifiers.org/clinvar/239642 ^@ NM_004168.3(SDHA):c.1273G>A (p.Val425Met) http://identifiers.org/clinvar/237298 ^@ NM_000238.3(KCNH2):c.2902C>G (p.Pro968Ala) http://identifiers.org/clinvar/240943 ^@ NM_014855.2(AP5Z1):c.481G>A (p.Val161Met) http://identifiers.org/clinvar/237899 ^@ NM_000535.6(PMS2):c.2013G>A (p.Thr671=) http://identifiers.org/clinvar/258002 ^@ NM_001369.2(DNAH5):c.13724-7T>G http://identifiers.org/clinvar/258052 ^@ NM_001369.2(DNAH5):c.6445-20A>G http://identifiers.org/clinvar/260042 ^@ NM_006846.3(SPINK5):c.1093-10A>G http://identifiers.org/clinvar/257552 ^@ NM_001135243.1(TCOF1):c.3493G>C (p.Gly1165Arg) http://identifiers.org/clinvar/259191 ^@ NM_003900.4(SQSTM1):c.936G>A (p.Arg312=) http://identifiers.org/clinvar/263041 ^@ NM_182925.4(FLT4):c.3001+31T>G http://identifiers.org/clinvar/260192 ^@ NM_012120.2(CD2AP):c.792C>T (p.Thr264=) http://identifiers.org/clinvar/258352 ^@ NM_001851.4(COL9A1):c.1765-26T>C http://identifiers.org/clinvar/259341 ^@ NM_004370.5(COL12A1):c.5871T>A (p.Ala1957=) http://identifiers.org/clinvar/258152 ^@ NM_001458.4(FLNC):c.6004+19G>A http://identifiers.org/clinvar/259892 ^@ NM_005989.3(AKR1D1):c.477C>T (p.Asp159=) http://identifiers.org/clinvar/259291 ^@ NM_004333.4(BRAF):c.712-40T>A http://identifiers.org/clinvar/257902 ^@ NM_001277115.1(DNAH11):c.4945-5T>G http://identifiers.org/clinvar/257852 ^@ NM_001277115.1(DNAH11):c.11254G>A (p.Asp3752Asn) http://identifiers.org/clinvar/255413 ^@ NM_000168.5(GLI3):c.*30G>T http://identifiers.org/clinvar/259591 ^@ NM_004959.4(NR5A1):c.437G>C (p.Gly146Ala) http://identifiers.org/clinvar/260142 ^@ NM_007171.3(POMT1):c.1764+48C>G http://identifiers.org/clinvar/255063 ^@ NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) http://identifiers.org/clinvar/255313 ^@ NM_000141.4(FGFR2):c.1011T>C (p.Ala337=) http://identifiers.org/clinvar/255163 ^@ NM_000124.3(ERCC6):c.1992+32A>G http://identifiers.org/clinvar/257402 ^@ NM_001083116.1(PRF1):c.462A>G (p.Ala154=) http://identifiers.org/clinvar/260242 ^@ NM_012330.3(KAT6B):c.4092_4094delGGA (p.Glu1368del) http://identifiers.org/clinvar/255813 ^@ NM_000314.6(PTEN):c.210-48_210-44delCCTAA http://identifiers.org/clinvar/255613 ^@ NM_000235.3(LIPA):c.966+46C>T http://identifiers.org/clinvar/259942 ^@ NM_006204.3(PDE6C):c.1380C>G (p.Thr460=) http://identifiers.org/clinvar/259541 ^@ NM_004771.3(MMP20):c.824T>C (p.Val275Ala) http://identifiers.org/clinvar/259141 ^@ NM_003737.3(DCHS1):c.6365-11A>G http://identifiers.org/clinvar/255663 ^@ NM_000260.3(MYO7A):c.4323+35G>T http://identifiers.org/clinvar/259641 ^@ NM_005123.3(NR1H4):c.-1G>T http://identifiers.org/clinvar/259441 ^@ NM_004572.3(PKP2):c.2145+45G>A http://identifiers.org/clinvar/258202 ^@ NM_001843.3(CNTN1):c.804-8A>G http://identifiers.org/clinvar/255763 ^@ NM_000289.5(PFKM):c.516C>T (p.Thr172=) http://identifiers.org/clinvar/258252 ^@ NM_001845.5(COL4A1):c.3693G>A (p.Thr1231=) http://identifiers.org/clinvar/260392 ^@ NM_014363.5(SACS):c.171+13C>T http://identifiers.org/clinvar/263091 ^@ NM_194318.3(B3GLCT):c.1105G>A (p.Gly369Ser) http://identifiers.org/clinvar/254763 ^@ NM_000053.3(ATP7B):c.2268G>A (p.Ala756=) http://identifiers.org/clinvar/254713 ^@ NM_000021.3(PSEN1):c.1017A>G (p.Glu339=) http://identifiers.org/clinvar/257252 ^@ NM_001040108.1(MLH3):c.2531C>T (p.Pro844Leu) http://identifiers.org/clinvar/260292 ^@ NM_013382.5(POMT2):c.1332+13C>T http://identifiers.org/clinvar/255713 ^@ NM_000275.2(OCA2):c.1007C>T (p.Ala336Val) http://identifiers.org/clinvar/254863 ^@ NM_000070.2(CAPN3):c.1914+13G>C http://identifiers.org/clinvar/336088 ^@ NM_022437.2(ABCG8):c.1736A>T (p.Asn579Ile) http://identifiers.org/clinvar/336695 ^@ NM_002618.3(PEX13):c.*1875_*1876delAG http://identifiers.org/clinvar/336138 ^@ NM_133259.3(LRPPRC):c.*485C>T http://identifiers.org/clinvar/336188 ^@ NM_000341.3(SLC3A1):c.395A>G (p.Lys132Arg) http://identifiers.org/clinvar/336238 ^@ NM_001430.4(EPAS1):c.218-12C>T http://identifiers.org/clinvar/336995 ^@ NM_003124.4(SPR):c.*321G>C http://identifiers.org/clinvar/336288 ^@ NM_001430.4(EPAS1):c.*349T>C http://identifiers.org/clinvar/336445 ^@ NM_000233.3(LHCGR):c.*724T>C http://identifiers.org/clinvar/336495 ^@ NM_001135659.2(NRXN1):c.*3387_*3391dupGACAA http://identifiers.org/clinvar/337345 ^@ NM_022912.2(REEP1):c.*2885_*2888dupAACA http://identifiers.org/clinvar/337395 ^@ NM_004836.6(EIF2AK3):c.*310_*311dupTA http://identifiers.org/clinvar/336595 ^@ NM_001135659.2(NRXN1):c.-1453_-1452dupCT http://identifiers.org/clinvar/337495 ^@ NM_017849.3(TMEM127):c.*662G>A http://identifiers.org/clinvar/336645 ^@ NM_001039348.2(EFEMP1):c.-368G>C http://identifiers.org/clinvar/337595 ^@ NM_020184.3(CNNM4):c.*91C>T http://identifiers.org/clinvar/336795 ^@ NM_002056.3(GFPT1):c.*5195_*5199delCTGCTinsTGTCTTTTTTATA http://identifiers.org/clinvar/336895 ^@ NM_001002755.2(NFU1):c.-1G>A http://identifiers.org/clinvar/342275 ^@ NM_016247.3(IMPG2):c.*3825G>A http://identifiers.org/clinvar/336945 ^@ NM_003494.3(DYSF):c.622A>G (p.Thr208Ala) http://identifiers.org/clinvar/337295 ^@ NM_198843.2(SFTPB):c.*780G>A http://identifiers.org/clinvar/335099 ^@ NM_004369.3(COL6A3):c.8385C>T (p.Phe2795=) http://identifiers.org/clinvar/337645 ^@ NM_001298.2(CNGA3):c.-388C>G http://identifiers.org/clinvar/342375 ^@ NM_033084.4(FANCD2):c.3646A>G (p.Lys1216Glu) http://identifiers.org/clinvar/335149 ^@ NM_004369.3(COL6A3):c.-147G>A http://identifiers.org/clinvar/343914 ^@ NM_000060.4(BTD):c.1487T>C (p.Phe496Ser) http://identifiers.org/clinvar/344064 ^@ NM_001041.3(SI):c.748C>T (p.Arg250Cys) http://identifiers.org/clinvar/350654 ^@ NM_032446.2(MEGF10):c.1726C>T (p.Arg576Cys) http://identifiers.org/clinvar/354580 ^@ NM_002397.4(MEF2C):c.*806A>G http://identifiers.org/clinvar/350704 ^@ NM_032446.2(MEGF10):c.*2519G>A http://identifiers.org/clinvar/350804 ^@ NM_198253.2(TERT):c.572G>C (p.Ser191Thr) http://identifiers.org/clinvar/350954 ^@ NM_017415.2(KLHL3):c.*2168T>C http://identifiers.org/clinvar/354930 ^@ NM_014028.3(OSTM1):c.*2887G>A http://identifiers.org/clinvar/354980 ^@ NM_014028.3(OSTM1):c.*168T>G http://identifiers.org/clinvar/358130 ^@ NM_022726.3(ELOVL4):c.*803T>C http://identifiers.org/clinvar/358180 ^@ NM_183050.3(BCKDHB):c.*440A>T http://identifiers.org/clinvar/355131 ^@ NM_001010892.2(RSPH4A):c.*465T>C http://identifiers.org/clinvar/358330 ^@ NM_000602.4(SERPINE1):c.*1192G>C http://identifiers.org/clinvar/351054 ^@ NM_001369.2(DNAH5):c.8268A>C (p.Ser2756=) http://identifiers.org/clinvar/358530 ^@ NM_000111.2(SLC26A3):c.*386G>A http://identifiers.org/clinvar/351643 ^@ NM_024577.3(SH3TC2):c.*16020A>C http://identifiers.org/clinvar/351793 ^@ NM_024577.3(SH3TC2):c.*6301C>T http://identifiers.org/clinvar/351843 ^@ NM_024577.3(SH3TC2):c.*3077C>T http://identifiers.org/clinvar/351893 ^@ NM_024577.3(SH3TC2):c.*86C>T http://identifiers.org/clinvar/352091 ^@ NM_000112.3(SLC26A2):c.*4782A>G http://identifiers.org/clinvar/351993 ^@ NM_000440.2(PDE6A):c.853C>A (p.Gln285Lys) http://identifiers.org/clinvar/352341 ^@ NM_000337.5(SGCD):c.*360A>G http://identifiers.org/clinvar/359769 ^@ NM_032581.3(FAM126A):c.1515A>G (p.Gln505=) http://identifiers.org/clinvar/359869 ^@ NM_018947.5(CYCS):c.*4642G>A http://identifiers.org/clinvar/352191 ^@ NM_001135243.1(TCOF1):c.-26T>A http://identifiers.org/clinvar/359919 ^@ NM_018947.5(CYCS):c.*1839C>T http://identifiers.org/clinvar/352241 ^@ NM_001135243.1(TCOF1):c.*151C>T http://identifiers.org/clinvar/352691 ^@ NM_001034850.2(RETREG1):c.796C>T (p.Arg266Cys) http://identifiers.org/clinvar/352541 ^@ NM_001099287.1(NIPAL4):c.*1140G>T http://identifiers.org/clinvar/352591 ^@ NM_000806.5(GABRA1):c.-195A>G http://identifiers.org/clinvar/352741 ^@ NM_001017995.2(SH3PXD2B):c.*3815delC http://identifiers.org/clinvar/360369 ^@ NM_014855.2(AP5Z1):c.*921delT http://identifiers.org/clinvar/360519 ^@ NM_004577.3(PSPH):c.-130G>T http://identifiers.org/clinvar/360619 ^@ NM_153033.4(KCTD7):c.*2656A>G http://identifiers.org/clinvar/352941 ^@ NM_022455.4(NSD1):c.*4596delG http://identifiers.org/clinvar/352991 ^@ NM_000505.3(F12):c.1212C>G (p.Pro404=) http://identifiers.org/clinvar/353191 ^@ NM_004553.4(NDUFS6):c.155G>C (p.Arg52Thr) http://identifiers.org/clinvar/353041 ^@ NM_014244.4(ADAMTS2):c.*2724A>G http://identifiers.org/clinvar/353241 ^@ NM_014324.5(AMACR):c.*963C>T http://identifiers.org/clinvar/353291 ^@ NM_002185.3(IL7R):c.*1508G>C http://identifiers.org/clinvar/358080 ^@ NM_181714.3(LCA5):c.*842A>G http://identifiers.org/clinvar/363868 ^@ NM_019098.4(CNGB3):c.2248C>T (p.Pro750Ser) http://identifiers.org/clinvar/363818 ^@ NM_000318.2(PEX2):c.24G>A (p.Ala8=) http://identifiers.org/clinvar/306654 ^@ NM_139319.2(SLC17A8):c.*1521dupT http://identifiers.org/clinvar/306804 ^@ NM_024312.4(GNPTAB):c.2625G>A (p.Val875=) http://identifiers.org/clinvar/306854 ^@ NM_000618.4(IGF1):c.*4421_*4422insT http://identifiers.org/clinvar/306904 ^@ NM_000618.4(IGF1):c.*263_*265delTATinsAAA http://identifiers.org/clinvar/306954 ^@ NM_018082.5(POLR3B):c.*238T>C http://identifiers.org/clinvar/307004 ^@ NM_052845.3(MMAB):c.*3019A>G http://identifiers.org/clinvar/364557 ^@ NM_003640.4(IKBKAP):c.3492C>T (p.Asp1164=) http://identifiers.org/clinvar/364607 ^@ NM_005592.3(MUSK):c.1250C>T (p.Thr417Ile) http://identifiers.org/clinvar/307254 ^@ NM_002834.4(PTPN11):c.*2731G>A http://identifiers.org/clinvar/364457 ^@ NM_005502.3(ABCA1):c.664C>T (p.Leu222=) http://identifiers.org/clinvar/364707 ^@ NM_015404.3(WHRN):c.-510G>A http://identifiers.org/clinvar/307404 ^@ NM_005996.3(TBX3):c.-872_-871insTCCCTC http://identifiers.org/clinvar/364757 ^@ NM_018249.5(CDK5RAP2):c.3265T>C (p.Ser1089Pro) http://identifiers.org/clinvar/307504 ^@ NM_152269.4(C12orf65):c.*354G>A http://identifiers.org/clinvar/364907 ^@ NM_002316.3(LMX1B):c.*547C>T http://identifiers.org/clinvar/301010 ^@ NM_007055.3(POLR3A):c.*1303C>T http://identifiers.org/clinvar/301160 ^@ NM_000429.2(MAT1A):c.*1078C>T http://identifiers.org/clinvar/364957 ^@ NM_002316.3(LMX1B):c.*2590_*2591delTT http://identifiers.org/clinvar/365207 ^@ NM_014908.3(DOLK):c.-404G>A http://identifiers.org/clinvar/364857 ^@ NM_000550.2(TYRP1):c.1082-8G>A http://identifiers.org/clinvar/365157 ^@ NM_001130438.2(SPTAN1):c.1221+11C>G http://identifiers.org/clinvar/365607 ^@ NM_014694.3(ADAMTSL2):c.2512G>A (p.Gly838Arg) http://identifiers.org/clinvar/301610 ^@ NM_014391.2(ANKRD1):c.-102C>T http://identifiers.org/clinvar/365307 ^@ NM_015046.5(SETX):c.*2136A>T http://identifiers.org/clinvar/301710 ^@ NM_016341.3(PLCE1):c.3133G>T (p.Ala1045Ser) http://identifiers.org/clinvar/365407 ^@ NM_000368.4(TSC1):c.*3987A>G http://identifiers.org/clinvar/365457 ^@ NM_000368.4(TSC1):c.*2228G>A http://identifiers.org/clinvar/301810 ^@ NM_138413.3(HOGA1):c.*352T>C http://identifiers.org/clinvar/298421 ^@ NM_004376.6(COX15):c.107G>A (p.Arg36His) http://identifiers.org/clinvar/298471 ^@ NM_000392.4(ABCC2):c.3988-15G>C http://identifiers.org/clinvar/302060 ^@ NM_001080463.1(DYNC2H1):c.7122G>A (p.Leu2374=) http://identifiers.org/clinvar/302160 ^@ NM_001025389.1(AMPD3):c.669C>T (p.His223=) http://identifiers.org/clinvar/366358 ^@ NM_003383.4(VLDLR):c.-19_-18insGGCACCGGC http://identifiers.org/clinvar/309903 ^@ NM_005379.3(MYO1A):c.2485-4A>T http://identifiers.org/clinvar/302310 ^@ NM_002906.3(RDX):c.*1290_*1291delAC http://identifiers.org/clinvar/302360 ^@ NM_002906.3(RDX):c.-169C>T http://identifiers.org/clinvar/310053 ^@ NM_000552.4(VWF):c.6196A>G (p.Asn2066Asp) http://identifiers.org/clinvar/310103 ^@ NM_001065.3(TNFRSF1A):c.*148C>T http://identifiers.org/clinvar/310153 ^@ NM_001038.5(SCNN1A):c.99C>T (p.Pro33=) http://identifiers.org/clinvar/310303 ^@ NM_021150.3(GRIP1):c.2205G>A (p.Lys735=) http://identifiers.org/clinvar/366308 ^@ NM_002451.3(MTAP):c.*3144G>A http://identifiers.org/clinvar/310503 ^@ NM_024685.3(BBS10):c.-66C>T http://identifiers.org/clinvar/310603 ^@ NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) http://identifiers.org/clinvar/310658 ^@ NM_001920.4(DCN):c.529A>T (p.Ile177Phe) http://identifiers.org/clinvar/310708 ^@ NM_002108.3(HAL):c.1414G>A (p.Glu472Lys) http://identifiers.org/clinvar/310958 ^@ NM_002312.3(LIG4):c.*562_*563insAAT http://identifiers.org/clinvar/311058 ^@ NM_001845.5(COL4A1):c.2103C>T (p.Asp701=) http://identifiers.org/clinvar/312597 ^@ NM_005708.4(GPC6):c.*3439T>C http://identifiers.org/clinvar/340435 ^@ NM_006657.2(FTCD):c.476C>T (p.Ala159Val) http://identifiers.org/clinvar/321882 ^@ NM_006445.3(PRPF8):c.4947-5C>T http://identifiers.org/clinvar/322032 ^@ NM_012452.2(TNFRSF13B):c.61+10C>G http://identifiers.org/clinvar/314536 ^@ NM_013382.5(POMT2):c.*790G>A http://identifiers.org/clinvar/313047 ^@ NM_025152.2(NUBPL):c.*1015C>A http://identifiers.org/clinvar/314886 ^@ NM_006329.3(FBLN5):c.-382C>G http://identifiers.org/clinvar/322671 ^@ NM_000049.2(ASPA):c.*246G>A http://identifiers.org/clinvar/341325 ^@ NM_000362.4(TIMP3):c.-1171G>A http://identifiers.org/clinvar/315036 ^@ NM_000295.4(SERPINA1):c.-143C>T http://identifiers.org/clinvar/341475 ^@ NM_002473.5(MYH9):c.*596G>A http://identifiers.org/clinvar/322821 ^@ NM_004937.2(CTNS):c.-362C>T http://identifiers.org/clinvar/313447 ^@ NM_005982.3(SIX1):c.*1001T>C http://identifiers.org/clinvar/313547 ^@ NM_182914.2(SYNE2):c.9502A>G (p.Ile3168Val) http://identifiers.org/clinvar/341875 ^@ NM_052945.3(TNFRSF13C):c.*113G>A http://identifiers.org/clinvar/313597 ^@ NM_182914.2(SYNE2):c.14197C>A (p.Pro4733Thr) http://identifiers.org/clinvar/323271 ^@ NM_012232.5(CAVIN1):c.*458C>T http://identifiers.org/clinvar/315586 ^@ NM_133647.1(SLC12A6):c.*1493G>A http://identifiers.org/clinvar/315636 ^@ NM_018648.3(NOP10):c.*30A>G http://identifiers.org/clinvar/313747 ^@ NM_000347.5(SPTB):c.2419C>G (p.Gln807Glu) http://identifiers.org/clinvar/323371 ^@ NM_000151.3(G6PC):c.*556C>T http://identifiers.org/clinvar/315836 ^@ NM_002225.3(IVD):c.*2912G>A http://identifiers.org/clinvar/315886 ^@ NM_016013.3(NDUFAF1):c.-379C>T http://identifiers.org/clinvar/315936 ^@ NM_138477.2(CDAN1):c.2361G>A (p.Ala787=) http://identifiers.org/clinvar/323871 ^@ NM_000212.2(ITGB3):c.2085C>T (p.Tyr695=) http://identifiers.org/clinvar/316086 ^@ NM_025137.3(SPG11):c.6007-6T>C http://identifiers.org/clinvar/323921 ^@ NM_018129.3(PNPO):c.*731delT http://identifiers.org/clinvar/316186 ^@ NM_014080.4(DUOX2):c.501C>T (p.Asn167=) http://identifiers.org/clinvar/316236 ^@ NM_012388.3(BLOC1S6):c.*1139G>A http://identifiers.org/clinvar/316286 ^@ NM_000338.2(SLC12A1):c.*126T>C http://identifiers.org/clinvar/324021 ^@ NM_005220.2(DLX3):c.798G>A (p.Pro266=) http://identifiers.org/clinvar/316386 ^@ NM_000138.4(FBN1):c.1371C>G (p.Arg457=) http://identifiers.org/clinvar/314436 ^@ NM_003239.4(TGFB3):c.*1065C>T http://identifiers.org/clinvar/314486 ^@ NM_004452.3(ESRRB):c.515-4A>G http://identifiers.org/clinvar/314586 ^@ NM_004863.3(SPTLC2):c.*4503A>G http://identifiers.org/clinvar/314636 ^@ NM_004863.3(SPTLC2):c.*1729G>A http://identifiers.org/clinvar/314686 ^@ NM_004863.3(SPTLC2):c.-160A>G http://identifiers.org/clinvar/314736 ^@ NM_000153.3(GALC):c.*723G>A http://identifiers.org/clinvar/314936 ^@ NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) http://identifiers.org/clinvar/317125 ^@ NM_000781.2(CYP11A1):c.1099A>T (p.Met367Leu) http://identifiers.org/clinvar/315086 ^@ NM_177438.2(DICER1):c.*981C>T http://identifiers.org/clinvar/315286 ^@ NM_139057.3(ADAMTS17):c.1696A>C (p.Arg566=) http://identifiers.org/clinvar/315486 ^@ NM_002420.5(TRPM1):c.4772A>T (p.Lys1591Met) http://identifiers.org/clinvar/315536 ^@ NM_002420.5(TRPM1):c.264G>T (p.Met88Ile) http://identifiers.org/clinvar/325519 ^@ NM_004870.3(MPDU1):c.560C>T (p.Ala187Val) http://identifiers.org/clinvar/315686 ^@ NM_005159.4(ACTC1):c.*646C>A http://identifiers.org/clinvar/325419 ^@ NM_024599.5(RHBDF2):c.*51G>C http://identifiers.org/clinvar/317726 ^@ NM_000246.3(CIITA):c.3255G>A (p.Thr1085=) http://identifiers.org/clinvar/325469 ^@ NM_024599.5(RHBDF2):c.-14G>A http://identifiers.org/clinvar/317876 ^@ NM_005236.2(ERCC4):c.*3801C>T http://identifiers.org/clinvar/325719 ^@ NM_138793.3(CANT1):c.-397A>C http://identifiers.org/clinvar/325770 ^@ NM_000152.4(GAA):c.-236C>T http://identifiers.org/clinvar/325870 ^@ NM_001139.2(ALOX12B):c.1926+4C>T http://identifiers.org/clinvar/318178 ^@ NM_002474.2(MYH11):c.-17-13C>T http://identifiers.org/clinvar/371841 ^@ NM_004168.3(SDHA):c.770+19_770+23del5 http://identifiers.org/clinvar/372091 ^@ NM_020975.4(RET):c.1879+13C>T http://identifiers.org/clinvar/372041 ^@ NM_000314.6(PTEN):c.210-26A>T http://identifiers.org/clinvar/371991 ^@ NM_006231.3(POLE):c.721-9_721-8delGT http://identifiers.org/clinvar/371791 ^@ NM_007294.3(BRCA1):c.3772_3774delGAG (p.Glu1258del) http://identifiers.org/clinvar/371891 ^@ NM_000455.4(STK11):c.735-19C>T http://identifiers.org/clinvar/372148 ^@ NM_005140.1(CNGA2):c.634C>T (p.Arg212Ter) http://identifiers.org/clinvar/372220 ^@ NM_176869.2(PPA2):c.182C>T (p.Ser61Phe) http://identifiers.org/clinvar/372274 ^@ NM_181783.3(TMTC3):c.2617C>T (p.Gln873Ter) http://identifiers.org/clinvar/372741 ^@ NM_001165963.1(SCN1A):c.2362G>A (p.Glu788Lys) http://identifiers.org/clinvar/372894 ^@ NM_000193.3(SHH):c.1028G>A (p.Gly343Asp) http://identifiers.org/clinvar/372377 ^@ NM_000238.3(KCNH2):c.2398+1G>T http://identifiers.org/clinvar/373736 ^@ NM_001100117.2(RIMS2):c.3293G>T (p.Arg1098Leu) http://identifiers.org/clinvar/372428 ^@ NM_000257.3(MYH7):c.561C>G (p.Asn187Lys) http://identifiers.org/clinvar/373786 ^@ NM_000834.3(GRIN2B):c.3964G>A (p.Val1322Ile) http://identifiers.org/clinvar/372536 ^@ NM_000359.2(TGM1):c.1417G>A (p.Gly473Ser) http://identifiers.org/clinvar/372791 ^@ NM_001849.3(COL6A2):c.855+1G>A http://identifiers.org/clinvar/372327 ^@ NM_007098.3(CLTCL1):c.988G>A (p.Glu330Lys) http://identifiers.org/clinvar/372844 ^@ NM_004606.4(TAF1):c.2954C>T (p.Ser985Phe) http://identifiers.org/clinvar/373836 ^@ NG_005905.2:g.116869_123429del6561 http://identifiers.org/clinvar/373886 ^@ NG_005905.2:g.(?_92501)_(93968_102204)dup http://identifiers.org/clinvar/374139 ^@ NM_000329.2(RPE65):c.1338+1G>A http://identifiers.org/clinvar/374189 ^@ NM_000165.4(GJA1):c.486G>C (p.Lys162Asn) http://identifiers.org/clinvar/374089 ^@ NM_001256442.1(PRRT2):c.674A>G (p.Glu225Gly) http://identifiers.org/clinvar/373989 ^@ NM_024422.4(DSC2):c.1717A>G (p.Asn573Asp) http://identifiers.org/clinvar/373939 ^@ NM_002025.3(AFF2):c.3209A>G (p.His1070Arg) http://identifiers.org/clinvar/374039 ^@ NM_005745.7(BCAP31):c.119T>C (p.Leu40Pro) http://identifiers.org/clinvar/374243 ^@ NM_000834.3(GRIN2B):c.1672G>A (p.Val558Ile) http://identifiers.org/clinvar/374313 ^@ NM_005270.4(GLI2):c.3261dupC (p.Thr1088Hisfs) http://identifiers.org/clinvar/374378 ^@ NM_005853.5(IRX5):c.240_242delCTC (p.Ser81del) http://identifiers.org/clinvar/374431 ^@ NM_000833.4(GRIN2A):c.942C>T (p.Pro314=) http://identifiers.org/clinvar/374481 ^@ NM_014191.3(SCN8A):c.4412A>T (p.Lys1471Met) http://identifiers.org/clinvar/374531 ^@ NM_014014.4(SNRNP200):c.1627C>T (p.Pro543Ser) http://identifiers.org/clinvar/374581 ^@ NM_007255.2(B4GALT7):c.277C>T (p.His93Tyr) http://identifiers.org/clinvar/374631 ^@ NM_138361.5(LRSAM1):c.1027C>T (p.Leu343=) http://identifiers.org/clinvar/374681 ^@ NM_001127221.1(CACNA1A):c.5403+2T>C http://identifiers.org/clinvar/374731 ^@ NM_199292.2(TH):c.746C>T (p.Pro249Leu) http://identifiers.org/clinvar/374782 ^@ NM_025114.3(CEP290):c.4029G>A (p.Lys1343=) http://identifiers.org/clinvar/374841 ^@ TBX5, 48-KB DUP, EX2-9DUP http://identifiers.org/clinvar/374891 ^@ SLC25A46, 1.897-KB DEL http://identifiers.org/clinvar/374958 ^@ NM_000251.2(MSH2):c.942+3delA http://identifiers.org/clinvar/375228 ^@ NM_003846.2(PEX11B):c.(?_-1)_(374+1_375-1)del http://identifiers.org/clinvar/375289 ^@ NM_000192.3(TBX5):c.404T>G (p.Leu135Arg) http://identifiers.org/clinvar/388076 ^@ NM_001256850.1(TTN):c.15021G>A (p.Glu5007=) http://identifiers.org/clinvar/379990 ^@ NM_015929.3(LIPT1):c.-16T>C http://identifiers.org/clinvar/388926 ^@ NM_001927.3(DES):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/379039 ^@ NM_000551.3(VHL):c.183C>T (p.Pro61=) http://identifiers.org/clinvar/379289 ^@ NM_000388.3(CASR):c.1828G>T (p.Glu610Ter) http://identifiers.org/clinvar/378142 ^@ NM_000249.3(MLH1):c.1238C>T (p.Thr413Ile) http://identifiers.org/clinvar/383787 ^@ NM_053025.3(MYLK):c.474G>T (p.Glu158Asp) http://identifiers.org/clinvar/391615 ^@ NM_006514.3(SCN10A):c.1233T>A (p.Ile411=) http://identifiers.org/clinvar/389776 ^@ NM_032806.5(POMGNT2):c.153C>T (p.Ile51=) http://identifiers.org/clinvar/383536 ^@ NM_003106.3(SOX2):c.552G>T (p.Pro184=) http://identifiers.org/clinvar/391515 ^@ NM_006514.3(SCN10A):c.3138G>A (p.Arg1046=) http://identifiers.org/clinvar/379089 ^@ NM_198056.2(SCN5A):c.2700C>T (p.Ile900=) http://identifiers.org/clinvar/379389 ^@ NM_000142.4(FGFR3):c.-102-3T>C http://identifiers.org/clinvar/387337 ^@ NM_005911.5(MAT2A):c.406-19G>A http://identifiers.org/clinvar/377740 ^@ NM_015697.7(COQ2):c.775T>C (p.Leu259=) http://identifiers.org/clinvar/377490 ^@ NM_000038.5(APC):c.1713A>G (p.Ala571=) http://identifiers.org/clinvar/388226 ^@ NM_004637.5(RAB7A):c.54-17T>C http://identifiers.org/clinvar/388976 ^@ NM_001999.3(FBN2):c.1765G>A (p.Gly589Ser) http://identifiers.org/clinvar/381883 ^@ NM_005051.2(QARS):c.266-15G>A http://identifiers.org/clinvar/383737 ^@ NM_033071.3(SYNE1):c.11131A>T (p.Lys3711Ter) http://identifiers.org/clinvar/387287 ^@ NM_000083.2(CLCN1):c.2883G>C (p.Gly961=) http://identifiers.org/clinvar/388726 ^@ NM_000048.3(ASL):c.833+4A>G http://identifiers.org/clinvar/388326 ^@ NM_001182.4(ALDH7A1):c.1126C>A (p.Gln376Lys) http://identifiers.org/clinvar/379439 ^@ NM_006904.6(PRKDC):c.5088T>G (p.Leu1696=) http://identifiers.org/clinvar/378040 ^@ NM_153033.4(KCTD7):c.387C>T (p.Ala129=) http://identifiers.org/clinvar/391765 ^@ NM_006059.3(LAMC3):c.1866C>G (p.Pro622=) http://identifiers.org/clinvar/391115 ^@ NM_000722.3(CACNA2D1):c.489C>T (p.His163=) http://identifiers.org/clinvar/383887 ^@ NM_002397.4(MEF2C):c.-43A>T http://identifiers.org/clinvar/388676 ^@ NM_001130438.2(SPTAN1):c.1869A>T (p.Ala623=) http://identifiers.org/clinvar/393004 ^@ NM_019105.6(TNXB):c.1808G>A (p.Gly603Asp) http://identifiers.org/clinvar/392015 ^@ NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) http://identifiers.org/clinvar/378889 ^@ NM_203447.3(DOCK8):c.3234+15C>A http://identifiers.org/clinvar/383686 ^@ NM_001003800.1(BICD2):c.2142G>C (p.Lys714Asn) http://identifiers.org/clinvar/388776 ^@ NM_004281.3(BAG3):c.891C>T (p.Thr297=) http://identifiers.org/clinvar/380090 ^@ NM_004092.3(ECHS1):c.808-17G>A http://identifiers.org/clinvar/133179 ^@ NM_000540.2(RYR1):c.7036G>A (p.Val2346Met) http://identifiers.org/clinvar/133229 ^@ NM_000540.2(RYR1):c.8541+54A>G http://identifiers.org/clinvar/133308 ^@ NM_181457.3(PAX3):c.241G>T (p.Gly81Cys) http://identifiers.org/clinvar/133371 ^@ NM_002520.6(NPM1):c.-1G>T http://identifiers.org/clinvar/133421 ^@ NM_000368.4(TSC1):c.1029+34C>G http://identifiers.org/clinvar/133471 ^@ NM_004304.4(ALK):c.4303_4305delGAG (p.Glu1435del) http://identifiers.org/clinvar/133522 ^@ NM_000038.5(APC):c.7490C>T (p.Ser2497Leu) http://identifiers.org/clinvar/133572 ^@ NM_152641.3(ARID2):c.4945G>C (p.Val1649Leu) http://identifiers.org/clinvar/133622 ^@ NM_000051.3(ATM):c.5652dupA (p.Thr1885Asnfs) http://identifiers.org/clinvar/133672 ^@ NM_001706.4(BCL6):c.962C>T (p.Ala321Val) http://identifiers.org/clinvar/133722 ^@ NM_007294.3(BRCA1):c.466C>G (p.Leu156Val) http://identifiers.org/clinvar/133776 ^@ NM_001211.5(BUB1B):c.779A>G (p.Asn260Ser) http://identifiers.org/clinvar/133826 ^@ NM_001321786.1(CBLB):c.2786C>G (p.Ala929Gly) http://identifiers.org/clinvar/133876 ^@ NM_000075.3(CDK4):c.661G>A (p.Asp221Asn) http://identifiers.org/clinvar/133926 ^@ NM_004380.2(CREBBP):c.3029C>T (p.Pro1010Leu) http://identifiers.org/clinvar/133976 ^@ NM_177438.2(DICER1):c.5516G>A (p.Arg1839Gln) http://identifiers.org/clinvar/134026 ^@ NM_005228.4(EGFR):c.2224G>A (p.Val742Ile) http://identifiers.org/clinvar/134078 ^@ NM_001005862.2(ERBB2):c.2700G>T (p.Glu900Asp) http://identifiers.org/clinvar/134128 ^@ NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) http://identifiers.org/clinvar/134178 ^@ NM_000123.3(ERCC5):c.433G>A (p.Val145Ile) http://identifiers.org/clinvar/134228 ^@ NM_017709.3(FAM46C):c.841A>G (p.Ile281Val) http://identifiers.org/clinvar/134279 ^@ NM_000135.2(FANCA):c.3983C>T (p.Thr1328Ile) http://identifiers.org/clinvar/134329 ^@ NM_033084.4(FANCD2):c.4396C>A (p.Pro1466Thr) http://identifiers.org/clinvar/134380 ^@ NM_018315.4(FBXW7):c.170G>A (p.Ser57Asn) http://identifiers.org/clinvar/134430 ^@ NM_144997.5(FLCN):c.1283C>T (p.Pro428Leu) http://identifiers.org/clinvar/134480 ^@ NM_001077490.2(GNAS):c.1189C>G (p.Leu397Val) http://identifiers.org/clinvar/134530 ^@ NM_002185.3(IL7R):c.731C>T (p.Thr244Ile) http://identifiers.org/clinvar/134580 ^@ NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) http://identifiers.org/clinvar/134630 ^@ NM_000222.2(KIT):c.1261_1262insTCG (p.Val422_Asn423insVal) http://identifiers.org/clinvar/134682 ^@ NM_003482.3(KMT2D):c.5732C>A (p.Thr1911Asn) http://identifiers.org/clinvar/135321 ^@ NM_001127208.2(TET2):c.652G>A (p.Val218Met) http://identifiers.org/clinvar/136220 ^@ NM_020745.3(AARS2):c.2629C>T (p.Arg877Trp) http://identifiers.org/clinvar/136271 ^@ NM_174917.4(ACSF3):c.51G>C (p.Ala17=) http://identifiers.org/clinvar/136321 ^@ NM_004208.3(AIFM1):c.968-358C>T http://identifiers.org/clinvar/136372 ^@ NM_001182.4(ALDH7A1):c.774-18G>A http://identifiers.org/clinvar/187263 ^@ NM_001042492.2(NF1):c.7070A>G (p.Glu2357Gly) http://identifiers.org/clinvar/187463 ^@ NM_007294.3(BRCA1):c.2518A>G (p.Ser840Gly) http://identifiers.org/clinvar/183921 ^@ NM_007294.3(BRCA1):c.212+4T>C http://identifiers.org/clinvar/186913 ^@ NM_007294.3(BRCA1):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/186411 ^@ NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) http://identifiers.org/clinvar/184122 ^@ NM_032043.2(BRIP1):c.412T>C (p.Leu138=) http://identifiers.org/clinvar/187363 ^@ NM_032043.2(BRIP1):c.347C>G (p.Ser116Cys) http://identifiers.org/clinvar/184372 ^@ NM_000546.5(TP53):c.216C>T (p.Pro72=) http://identifiers.org/clinvar/183721 ^@ NM_000546.5(TP53):c.123T>C (p.Asp41=) http://identifiers.org/clinvar/184872 ^@ NM_000546.5(TP53):c.60A>G (p.Ser20=) http://identifiers.org/clinvar/186562 ^@ NM_000455.4(STK11):c.-5C>T http://identifiers.org/clinvar/187113 ^@ NM_007194.3(CHEK2):c.569C>T (p.Ala190Val) http://identifiers.org/clinvar/187767 ^@ NM_007254.3(PNKP):c.1322_1323insAGCCG (p.Gly442Alafs) http://identifiers.org/clinvar/187824 ^@ NC_000002.11:g.(?_167996718)_(170671886_?)del http://identifiers.org/clinvar/188403 ^@ NM_007294.3(BRCA1):c.1240dupG (p.Asp414Glyfs) http://identifiers.org/clinvar/188455 ^@ NM_004415.3(DSP):c.423-23T>A http://identifiers.org/clinvar/188555 ^@ NM_000256.3(MYBPC3):c.1625-12C>T http://identifiers.org/clinvar/188655 ^@ NM_004572.3(PKP2):c.337-19T>G http://identifiers.org/clinvar/188605 ^@ NM_000257.3(MYH7):c.934T>G (p.Phe312Val) http://identifiers.org/clinvar/188705 ^@ NM_001018005.1(TPM1):c.773-18T>C http://identifiers.org/clinvar/188505 ^@ NM_004992.3(MECP2):c.1410_1411delCA (p.Asn470Lysfs) http://identifiers.org/clinvar/188805 ^@ NM_000060.4(BTD):c.1227_1241delGGGAAAGGAAGGCTAinsTTCCAATGGCC (p.Trp409Cysfs) http://identifiers.org/clinvar/189107 ^@ NM_024685.3(BBS10):c.1448_1452delCTCAA (p.Thr483Asnfs) http://identifiers.org/clinvar/189157 ^@ NM_014363.5(SACS):c.3328dupA (p.Ile1110Asnfs) http://identifiers.org/clinvar/188855 ^@ NM_000520.5(HEXA):c.947dupA (p.Tyr316Terfs) http://identifiers.org/clinvar/188755 ^@ NM_000137.2(FAH):c.607-1G>A http://identifiers.org/clinvar/188906 ^@ NM_001031681.2(CTNS):c.199_219del21 (p.Ile67_Pro73del) http://identifiers.org/clinvar/189057 ^@ NM_000152.4(GAA):c.525_526delTG (p.Asn177Profs) http://identifiers.org/clinvar/189007 ^@ NM_000152.4(GAA):c.1441T>C (p.Trp481Arg) http://identifiers.org/clinvar/188956 ^@ NM_000271.4(NPC1):c.2893C>T (p.Gln965Ter) http://identifiers.org/clinvar/189222 ^@ NM_005982.3(SIX1):c.560+1G>C http://identifiers.org/clinvar/189275 ^@ NM_014795.3(ZEB2):c.1754delT (p.Phe585Serfs) http://identifiers.org/clinvar/189334 ^@ NM_001190442.1(CAST):c.481dupA (p.Ile161Asnfs) http://identifiers.org/clinvar/189425 ^@ NM_000314.6(PTEN):c.165-13_165-10delGTTT http://identifiers.org/clinvar/189485 ^@ NM_000314.6(PTEN):c.358G>A (p.Ala120Thr) http://identifiers.org/clinvar/189647 ^@ NM_004992.3(MECP2):c.1097_1203del107 (p.His366Profs) http://identifiers.org/clinvar/189747 ^@ NM_004992.3(MECP2):c.1115_1201del87 (p.His372_Ser401delinsArg) http://identifiers.org/clinvar/189697 ^@ NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA http://identifiers.org/clinvar/189547 ^@ NM_003159.2(CDKL5):c.473G>C (p.Arg158Pro) http://identifiers.org/clinvar/189597 ^@ NM_003159.2(CDKL5):c.660_664dupTTTTA (p.Thr222Ilefs) http://identifiers.org/clinvar/189818 ^@ CHRND, 2.2-KB DEL http://identifiers.org/clinvar/189881 ^@ NM_001165963.1(SCN1A):c.5536_5539delAAAC (p.Lys1846Serfs) http://identifiers.org/clinvar/189931 ^@ NM_001165963.1(SCN1A):c.1048A>G (p.Met350Val) http://identifiers.org/clinvar/226640 ^@ NM_001458.4(FLNC):c.2265+12C>G http://identifiers.org/clinvar/226590 ^@ NM_001277115.1(DNAH11):c.9435G>A (p.Thr3145=) http://identifiers.org/clinvar/226740 ^@ NM_001018116.2(CAVIN4):c.488A>G (p.Asp163Gly) http://identifiers.org/clinvar/227292 ^@ NM_015404.3(WHRN):c.2322C>T (p.Ser774=) http://identifiers.org/clinvar/226840 ^@ NM_032578.3(MYPN):c.1122G>A (p.Glu374=) http://identifiers.org/clinvar/226790 ^@ NM_016239.3(MYO15A):c.8045A>T (p.Tyr2682Phe) http://identifiers.org/clinvar/226490 ^@ NM_017950.3(CCDC40):c.180G>A (p.Ala60=) http://identifiers.org/clinvar/226690 ^@ NM_002290.4(LAMA4):c.1626A>C (p.Ser542=) http://identifiers.org/clinvar/234260 ^@ NM_018136.4(ASPM):c.8255T>G (p.Met2752Arg) http://identifiers.org/clinvar/234841 ^@ NM_000179.2(MSH6):c.2467A>G (p.Ser823Gly) http://identifiers.org/clinvar/234368 ^@ NM_000249.3(MLH1):c.-21C>T http://identifiers.org/clinvar/234488 ^@ NM_001148.4(ANK2):c.1189-5C>T http://identifiers.org/clinvar/234590 ^@ NM_000535.6(PMS2):c.419A>G (p.Asn140Ser) http://identifiers.org/clinvar/234891 ^@ NM_006158.4(NEFL):c.1373T>C (p.Ile458Thr) http://identifiers.org/clinvar/234790 ^@ NM_000834.3(GRIN2B):c.2084T>C (p.Ile695Thr) http://identifiers.org/clinvar/234539 ^@ NM_000059.3(BRCA2):c.9510C>G (p.Asp3170Glu) http://identifiers.org/clinvar/234740 ^@ NM_004360.4(CDH1):c.-36C>T http://identifiers.org/clinvar/234438 ^@ NM_000455.4(STK11):c.1283C>T (p.Ser428Leu) http://identifiers.org/clinvar/234690 ^@ NM_000214.2(JAG1):c.2418delC (p.Cys806Trpfs) http://identifiers.org/clinvar/234317 ^@ NM_000214.2(JAG1):c.62T>C (p.Leu21Pro) http://identifiers.org/clinvar/234640 ^@ NM_007194.3(CHEK2):c.1408G>T (p.Asp470Tyr) http://identifiers.org/clinvar/230524 ^@ NM_001128425.1(MUTYH):c.507G>C (p.Glu169Asp) http://identifiers.org/clinvar/233214 ^@ NM_000179.2(MSH6):c.4001G>C (p.Arg1334Pro) http://identifiers.org/clinvar/234056 ^@ NM_000249.3(MLH1):c.252delA (p.Lys84Asnfs) http://identifiers.org/clinvar/231513 ^@ NM_000038.5(APC):c.311C>G (p.Ser104Ter) http://identifiers.org/clinvar/263599 ^@ NM_020433.4(JPH2):c.1344C>T (p.Ser448=) http://identifiers.org/clinvar/264149 ^@ NM_004006.2(DMD):c.74T>C (p.Val25Ala) http://identifiers.org/clinvar/264720 ^@ NM_001242896.1(DEPDC5):c.526C>T (p.Gln176Ter) http://identifiers.org/clinvar/264875 ^@ NM_000059.3(BRCA2):c.7805+1293G>A http://identifiers.org/clinvar/264975 ^@ NM_000059.3(BRCA2):c.8332-1603T>G http://identifiers.org/clinvar/264925 ^@ NM_000059.3(BRCA2):c.9257-241A>T http://identifiers.org/clinvar/264775 ^@ NM_007294.3(BRCA1):c.4186-3540_4186-3535dup http://identifiers.org/clinvar/264825 ^@ NM_007294.3(BRCA1):c.134+2359_134+2363del http://identifiers.org/clinvar/265535 ^@ NM_002880.3(RAF1):c.505G>C (p.Gly169Arg) http://identifiers.org/clinvar/265080 ^@ NM_000094.3(COL7A1):c.8012G>A (p.Gly2671Glu) http://identifiers.org/clinvar/265181 ^@ NM_000168.5(GLI3):c.2419C>T (p.Leu807Phe) http://identifiers.org/clinvar/265586 ^@ NM_000535.6(PMS2):c.2521delT (p.Trp841Glyfs) http://identifiers.org/clinvar/265485 ^@ NM_194456.1(KRIT1):c.1807delC (p.His603Metfs) http://identifiers.org/clinvar/265130 ^@ NM_000127.2(EXT1):c.1468delC (p.Leu490Trpfs) http://identifiers.org/clinvar/265234 ^@ NM_130799.2(MEN1):c.292C>T (p.Arg98Ter) http://identifiers.org/clinvar/265385 ^@ NM_130838.1(UBE3A):c.1893_1894delTC (p.His632Profs) http://identifiers.org/clinvar/265285 ^@ NM_130838.1(UBE3A):c.767delG (p.Arg256Glnfs) http://identifiers.org/clinvar/265636 ^@ NM_024675.3(PALB2):c.421C>T (p.Gln141Ter) http://identifiers.org/clinvar/265335 ^@ NM_006086.3(TUBB3):c.533C>T (p.Thr178Met) http://identifiers.org/clinvar/265027 ^@ NM_000382.2(ALDH3A2):c.529C>T (p.Arg177Ter) http://identifiers.org/clinvar/265435 ^@ NM_000088.3(COL1A1):c.757C>T (p.Arg253Ter) http://identifiers.org/clinvar/265686 ^@ NM_007194.3(CHEK2):c.860delA (p.Lys287Argfs) http://identifiers.org/clinvar/265771 ^@ NM_198428.2(BBS9):c.1759C>T (p.Arg587Ter) http://identifiers.org/clinvar/265925 ^@ NM_174936.3(PCSK9):c.657+82G>A http://identifiers.org/clinvar/265875 ^@ NM_000384.2(APOB):c.538-8C>T http://identifiers.org/clinvar/265980 ^@ NM_206933.2(USH2A):c.9258+1G>A http://identifiers.org/clinvar/266846 ^@ NM_000059.3(BRCA2):c.506delA (p.Lys169Serfs) http://identifiers.org/clinvar/266696 ^@ NM_000059.3(BRCA2):c.2399dupG (p.Asn801Terfs) http://identifiers.org/clinvar/266746 ^@ NM_000059.3(BRCA2):c.3335delC (p.Thr1112Lysfs) http://identifiers.org/clinvar/266796 ^@ NM_000059.3(BRCA2):c.4221delA (p.Glu1407Aspfs) http://identifiers.org/clinvar/266896 ^@ NM_000059.3(BRCA2):c.5809_5812delTCTG (p.Ser1937Aspfs) http://identifiers.org/clinvar/266946 ^@ NM_000059.3(BRCA2):c.6419delG (p.Gly2140Valfs) http://identifiers.org/clinvar/266996 ^@ NM_000059.3(BRCA2):c.7277_7283delTTAACTT (p.Ile2426Argfs) http://identifiers.org/clinvar/267046 ^@ NM_000059.3(BRCA2):c.7984dupA (p.Thr2662Asnfs) http://identifiers.org/clinvar/267096 ^@ NM_000059.3(BRCA2):c.8536G>T (p.Glu2846Ter) http://identifiers.org/clinvar/267146 ^@ NM_000059.3(BRCA2):c.9218_9219insATTT (p.Asp3073Glufs) http://identifiers.org/clinvar/267210 ^@ NM_001655.4(ARCN1):c.633delA (p.Val212Trpfs) http://identifiers.org/clinvar/267269 ^@ NM_000054.4(AVPR2):c.966delC (p.Trp323Glyfs) http://identifiers.org/clinvar/267348 ^@ NM_001734.3(C1S):c.945_947delTGT (p.Asp315_Val316delinsGlu) http://identifiers.org/clinvar/267417 ^@ NM_017780.3(CHD7):c.1073delG (p.Gly358Valfs) http://identifiers.org/clinvar/267653 ^@ NM_000059.3(BRCA2):c.631+2T>A http://identifiers.org/clinvar/267703 ^@ NM_000059.3(BRCA2):c.8633-24_8634del http://identifiers.org/clinvar/267603 ^@ NM_007294.3(BRCA1):c.5407-?_5467+?dup http://identifiers.org/clinvar/267503 ^@ NM_007294.3(BRCA1):c.135-?_4484+?del http://identifiers.org/clinvar/267553 ^@ NM_007294.3(BRCA1):c.4675+1G>C http://identifiers.org/clinvar/267782 ^@ NM_006087.3(TUBB4A):c.900G>T (p.M300I) http://identifiers.org/clinvar/267833 ^@ 46;XY;t(6;12)(q14;q24);20p+dn http://identifiers.org/clinvar/267883 ^@ 46;X;inv(X)(p11.4q24)dn http://identifiers.org/clinvar/267933 ^@ 46;XY;t(1;14)(p21.2;q11.2)dn;t(4;10)(p13;q11.2)dn http://identifiers.org/clinvar/267983 ^@ 46;XY;t(11;12)(q25;q24.11) http://identifiers.org/clinvar/268033 ^@ 46;X;t(X;3)(p11.23;q13.2)dn http://identifiers.org/clinvar/268097 ^@ NM_002693.2(POLG):c.2693T>C (p.Ile898Thr) http://identifiers.org/clinvar/268153 ^@ NM_000207.2(INS):c.187+241G>A http://identifiers.org/clinvar/290886 ^@ NM_001267550.2(TTN):c.77622T>C (p.Asn25874=) http://identifiers.org/clinvar/290986 ^@ NM_003923.2(FOXH1):c.621A>C (p.Pro207=) http://identifiers.org/clinvar/291644 ^@ NM_015074.3(KIF1B):c.*3418C>T http://identifiers.org/clinvar/291744 ^@ NM_007375.3(TARDBP):c.*214T>C http://identifiers.org/clinvar/291694 ^@ NM_013296.4(GPSM2):c.-397C>G http://identifiers.org/clinvar/291794 ^@ NM_006610.3(MASP2):c.742-12C>T http://identifiers.org/clinvar/292783 ^@ NM_001111.4(ADAR):c.751C>G (p.Gln251Glu) http://identifiers.org/clinvar/292583 ^@ NM_000396.3(CTSK):c.675A>G (p.Arg225=) http://identifiers.org/clinvar/292933 ^@ NM_003126.2(SPTA1):c.*97_*98insATGTGT http://identifiers.org/clinvar/292683 ^@ NM_152263.3(TPM3):c.*999G>A http://identifiers.org/clinvar/292733 ^@ NM_001111.4(ADAR):c.*884C>T http://identifiers.org/clinvar/293283 ^@ NM_004550.4(NDUFS2):c.*71_*76delGGCCTCinsTGCGTCTGTGTGTG http://identifiers.org/clinvar/293333 ^@ NM_003001.3(SDHC):c.*632A>G http://identifiers.org/clinvar/293133 ^@ NM_000702.3(ATP1A2):c.1674A>G (p.Pro558=) http://identifiers.org/clinvar/293533 ^@ NM_006996.2(SLC19A2):c.205-15_205-14dupTT http://identifiers.org/clinvar/293183 ^@ NM_000702.3(ATP1A2):c.*1781C>T http://identifiers.org/clinvar/293233 ^@ NM_002857.3(PEX19):c.181-15A>G http://identifiers.org/clinvar/292533 ^@ NM_019032.5(ADAMTSL4):c.1464G>A (p.Ser488=) http://identifiers.org/clinvar/293583 ^@ NM_000130.4(F5):c.5460G>A (p.Met1820Ile) http://identifiers.org/clinvar/293433 ^@ NM_004431.4(EPHA2):c.1359C>T (p.Ser453=) http://identifiers.org/clinvar/293633 ^@ NM_000130.4(F5):c.936C>T (p.Thr312=) http://identifiers.org/clinvar/292633 ^@ NM_152263.3(TPM3):c.*5551_*5552delGT http://identifiers.org/clinvar/293783 ^@ NM_022089.3(ATP13A2):c.2285G>A (p.Arg762Gln) http://identifiers.org/clinvar/292833 ^@ NM_005572.3(LMNA):c.-5C>A http://identifiers.org/clinvar/293033 ^@ NM_003126.2(SPTA1):c.1680G>C (p.Leu560=) http://identifiers.org/clinvar/292883 ^@ NM_001012331.1(NTRK1):c.1080G>A (p.Thr360=) http://identifiers.org/clinvar/293683 ^@ NM_152281.2(GORAB):c.*1217T>C http://identifiers.org/clinvar/293083 ^@ NM_002241.4(KCNJ10):c.*2530G>C http://identifiers.org/clinvar/293733 ^@ NM_000639.2(FASLG):c.177G>A (p.Pro59=) http://identifiers.org/clinvar/292983 ^@ NM_003126.2(SPTA1):c.4564A>G (p.Thr1522Ala) http://identifiers.org/clinvar/293383 ^@ NM_006182.2(DDR2):c.2397G>C (p.Glu799Asp) http://identifiers.org/clinvar/293483 ^@ NM_005149.2(TBX19):c.*30G>A http://identifiers.org/clinvar/344164 ^@ NM_000340.1(SLC2A2):c.803_805delATG (p.Asp268del) http://identifiers.org/clinvar/336338 ^@ NM_139279.5(MCFD2):c.*2454C>A http://identifiers.org/clinvar/336395 ^@ NM_002354.2(EPCAM):c.-324C>A http://identifiers.org/clinvar/336038 ^@ NM_022436.2(ABCG5):c.1411G>A (p.Val471Ile) http://identifiers.org/clinvar/336545 ^@ NM_001135659.2(NRXN1):c.3504T>C (p.Phe1168=) http://identifiers.org/clinvar/344014 ^@ NM_001041.3(SI):c.4209T>C (p.Asn1403=) http://identifiers.org/clinvar/336845 ^@ NM_002056.3(GFPT1):c.*1741C>G http://identifiers.org/clinvar/344114 ^@ NM_005025.4(SERPINI1):c.-335G>A http://identifiers.org/clinvar/344264 ^@ NM_181426.1(CCDC39):c.1833G>A (p.Ala611=) http://identifiers.org/clinvar/344414 ^@ NM_003722.4(TP63):c.*1620T>C http://identifiers.org/clinvar/336745 ^@ NM_032180.2(FAM161A):c.161T>A (p.Val54Glu) http://identifiers.org/clinvar/337045 ^@ NM_080916.2(DGUOK):c.142+1G>T http://identifiers.org/clinvar/337095 ^@ NM_004082.4(DCTN1):c.622C>T (p.Pro208Ser) http://identifiers.org/clinvar/337145 ^@ NM_013247.4(HTRA2):c.*531A>G http://identifiers.org/clinvar/337245 ^@ NM_000821.6(GGCX):c.*469C>T http://identifiers.org/clinvar/337195 ^@ NM_000821.6(GGCX):c.*3644G>C http://identifiers.org/clinvar/337445 ^@ NM_017849.3(TMEM127):c.*3568C>G http://identifiers.org/clinvar/337545 ^@ NM_014014.4(SNRNP200):c.4029C>T (p.Asp1343=) http://identifiers.org/clinvar/342325 ^@ NM_016247.3(IMPG2):c.*372A>C http://identifiers.org/clinvar/342425 ^@ NM_000551.3(VHL):c.*1060C>T http://identifiers.org/clinvar/342475 ^@ NM_000551.3(VHL):c.*2548G>A http://identifiers.org/clinvar/347263 ^@ NM_001963.5(EGF):c.*67A>G http://identifiers.org/clinvar/347363 ^@ NM_001148.4(ANK2):c.*1610A>G http://identifiers.org/clinvar/342925 ^@ NM_000373.3(UMPS):c.-19A>G http://identifiers.org/clinvar/347713 ^@ NM_000901.4(NR3C2):c.*412C>T http://identifiers.org/clinvar/347963 ^@ NM_006017.2(PROM1):c.*1078A>G http://identifiers.org/clinvar/348013 ^@ NM_006017.2(PROM1):c.-37C>T http://identifiers.org/clinvar/348213 ^@ NM_000860.5(HPGD):c.-404G>C http://identifiers.org/clinvar/346913 ^@ NM_182896.2(ARL13B):c.1151G>A (p.Gly384Glu) http://identifiers.org/clinvar/343964 ^@ NM_020800.2(IFT80):c.1993A>T (p.Ile665Leu) http://identifiers.org/clinvar/353980 ^@ NM_001104631.1(PDE4D):c.*496_*500dupAAGTC http://identifiers.org/clinvar/358230 ^@ NM_006416.4(SLC35A1):c.*782A>G http://identifiers.org/clinvar/354030 ^@ NM_174889.4(NDUFAF2):c.-63G>T http://identifiers.org/clinvar/362068 ^@ NM_031466.7(TRAPPC9):c.3105-4G>A http://identifiers.org/clinvar/354280 ^@ NM_000046.3(ARSB):c.*1539dupT http://identifiers.org/clinvar/358580 ^@ NM_000108.4(DLD):c.*498T>G http://identifiers.org/clinvar/354080 ^@ NM_001038603.2(MARVELD2):c.453C>T (p.Asp151=) http://identifiers.org/clinvar/354330 ^@ NM_000046.3(ARSB):c.-726C>T http://identifiers.org/clinvar/354130 ^@ NM_000521.3(HEXB):c.78G>A (p.Met26Ile) http://identifiers.org/clinvar/354380 ^@ NM_002454.2(MTRR):c.*1058A>T http://identifiers.org/clinvar/362468 ^@ NM_005144.4(HR):c.*185C>G http://identifiers.org/clinvar/354480 ^@ NM_004385.4(VCAN):c.*881_*883delTGC http://identifiers.org/clinvar/362618 ^@ NM_006158.4(NEFL):c.*1609_*1612delTGAA http://identifiers.org/clinvar/354530 ^@ NM_002890.2(RASA1):c.*9G>A http://identifiers.org/clinvar/362768 ^@ NM_001017420.2(ESCO2):c.*505_*506delGT http://identifiers.org/clinvar/354630 ^@ NM_000439.4(PCSK1):c.*737_*739dupTCT http://identifiers.org/clinvar/359080 ^@ NM_018238.3(AGK):c.*1175C>T http://identifiers.org/clinvar/362918 ^@ NM_023110.2(FGFR1):c.-636C>T http://identifiers.org/clinvar/354680 ^@ NM_005068.2(SIM1):c.1112C>T (p.Ala371Val) http://identifiers.org/clinvar/363068 ^@ NM_006749.4(SLC20A2):c.1911C>T (p.Ser637=) http://identifiers.org/clinvar/354730 ^@ NM_001491.2(GCNT2):c.*1386C>G http://identifiers.org/clinvar/354880 ^@ NM_007214.4(SEC63):c.*514T>C http://identifiers.org/clinvar/363168 ^@ NM_152419.2(HGSNAT):c.*1251C>A http://identifiers.org/clinvar/354780 ^@ NM_001242957.2(MAK):c.*279A>C http://identifiers.org/clinvar/354830 ^@ NM_007214.4(SEC63):c.*3170C>T http://identifiers.org/clinvar/355030 ^@ NM_014845.5(FIG4):c.-120C>T http://identifiers.org/clinvar/355080 ^@ NM_000493.3(COL10A1):c.*318A>T http://identifiers.org/clinvar/355181 ^@ NM_000165.4(GJA1):c.*1020_*1021delTT http://identifiers.org/clinvar/363768 ^@ NM_000318.2(PEX2):c.*2973T>C http://identifiers.org/clinvar/355231 ^@ NM_006073.3(TRDN):c.-135A>G http://identifiers.org/clinvar/360069 ^@ NM_198428.2(BBS9):c.2404C>T (p.Pro802Ser) http://identifiers.org/clinvar/364507 ^@ NM_001079802.1(FKTN):c.*2508G>T http://identifiers.org/clinvar/364657 ^@ NM_000031.5(ALAD):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/360569 ^@ NM_000048.3(ASL):c.1270G>A (p.Val424Met) http://identifiers.org/clinvar/360669 ^@ NM_000501.3(ELN):c.*458C>T http://identifiers.org/clinvar/360769 ^@ NM_001001547.2(CD36):c.1220_1222delGGA (p.Arg407del) http://identifiers.org/clinvar/365057 ^@ NM_003165.3(STXBP1):c.*405G>A http://identifiers.org/clinvar/360919 ^@ NM_000466.2(PEX1):c.2927-12T>A http://identifiers.org/clinvar/365257 ^@ NM_054012.3(ASS1):c.566+11C>T http://identifiers.org/clinvar/361019 ^@ NM_014251.2(SLC25A13):c.1230+11T>C http://identifiers.org/clinvar/365357 ^@ NM_015046.5(SETX):c.3992C>T (p.Pro1331Leu) http://identifiers.org/clinvar/365657 ^@ NM_000787.3(DBH):c.1094T>C (p.Met365Thr) http://identifiers.org/clinvar/365857 ^@ NM_052813.4(CARD9):c.126C>T (p.Pro42=) http://identifiers.org/clinvar/303299 ^@ NM_152722.4(HEPACAM):c.*989G>T http://identifiers.org/clinvar/311508 ^@ NM_014363.5(SACS):c.10896A>G (p.Ile3632Met) http://identifiers.org/clinvar/303749 ^@ NM_000352.4(ABCC8):c.4605C>T (p.Ile1535=) http://identifiers.org/clinvar/303849 ^@ NM_181507.1(HPS5):c.*1003_*1004delAA http://identifiers.org/clinvar/304049 ^@ NM_000207.2(INS):c.*42C>T http://identifiers.org/clinvar/298571 ^@ NM_016169.3(SUFU):c.183-13T>G http://identifiers.org/clinvar/312447 ^@ NM_000115.4(EDNRB):c.*2167C>G http://identifiers.org/clinvar/312547 ^@ NM_005708.4(GPC6):c.1234G>A (p.Val412Met) http://identifiers.org/clinvar/312697 ^@ NM_022489.3(INF2):c.1978C>T (p.Arg660Trp) http://identifiers.org/clinvar/312747 ^@ NM_000270.3(PNP):c.*811G>A http://identifiers.org/clinvar/298521 ^@ NM_021830.4(TWNK):c.*803A>G http://identifiers.org/clinvar/312847 ^@ NM_002471.3(MYH6):c.5260G>C (p.Glu1754Gln) http://identifiers.org/clinvar/312947 ^@ NM_001099274.1(TINF2):c.1092G>A (p.Leu364=) http://identifiers.org/clinvar/312997 ^@ NM_000359.2(TGM1):c.33T>C (p.Arg11=) http://identifiers.org/clinvar/313097 ^@ NM_021914.7(CFL2):c.-57C>T http://identifiers.org/clinvar/298771 ^@ NM_005445.3(SMC3):c.2062G>C (p.Glu688Gln) http://identifiers.org/clinvar/313347 ^@ NM_001202.5(BMP4):c.*143A>T http://identifiers.org/clinvar/298871 ^@ NM_007373.3(SHOC2):c.*656C>G http://identifiers.org/clinvar/298921 ^@ NM_004132.4(HABP2):c.1555G>A (p.Gly519Ser) http://identifiers.org/clinvar/313647 ^@ NM_182914.2(SYNE2):c.19136G>A (p.Arg6379His) http://identifiers.org/clinvar/298971 ^@ NM_004281.3(BAG3):c.*399G>T http://identifiers.org/clinvar/313697 ^@ NM_000347.5(SPTB):c.*134C>T http://identifiers.org/clinvar/299471 ^@ NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) http://identifiers.org/clinvar/299121 ^@ NM_001609.3(ACADSB):c.*1920G>T http://identifiers.org/clinvar/299171 ^@ NM_000274.3(OAT):c.521-15_521-12delGTTT http://identifiers.org/clinvar/299671 ^@ NM_017433.4(MYO3A):c.3537G>A (p.Val1179=) http://identifiers.org/clinvar/305290 ^@ NM_005609.3(PYGM):c.-381T>C http://identifiers.org/clinvar/299271 ^@ NM_001033855.2(DCLRE1C):c.*1339G>C http://identifiers.org/clinvar/299571 ^@ NM_201590.2(CACNB2):c.*16_*17insC http://identifiers.org/clinvar/314986 ^@ NM_004239.4(TRIP11):c.-255G>A http://identifiers.org/clinvar/305890 ^@ NM_012309.4(SHANK2):c.912+6235T>G http://identifiers.org/clinvar/315336 ^@ NM_144599.4(NIPA1):c.*5299G>C http://identifiers.org/clinvar/315436 ^@ NM_022807.4(SNRPN):c.-569C>T http://identifiers.org/clinvar/300610 ^@ NM_004273.4(CHST3):c.*1425C>T http://identifiers.org/clinvar/300710 ^@ NM_016065.3(MRPS16):c.*473G>A http://identifiers.org/clinvar/315736 ^@ NM_152594.2(SPRED1):c.881A>T (p.Tyr294Phe) http://identifiers.org/clinvar/306604 ^@ NM_030962.3(SBF2):c.1799G>A (p.Arg600Gln) http://identifiers.org/clinvar/329209 ^@ NM_017827.3(SARS2):c.*22C>A http://identifiers.org/clinvar/317676 ^@ NM_000246.3(CIITA):c.200-10T>C http://identifiers.org/clinvar/329359 ^@ NM_000709.3(BCKDHA):c.159G>C (p.Gln53His) http://identifiers.org/clinvar/317776 ^@ NM_004862.3(LITAF):c.*143C>T http://identifiers.org/clinvar/309853 ^@ NM_001029.3(RPS26):c.-35G>A http://identifiers.org/clinvar/317926 ^@ NM_001287.5(CLCN7):c.*735C>T http://identifiers.org/clinvar/317976 ^@ NM_014714.3(IFT140):c.*235C>A http://identifiers.org/clinvar/310003 ^@ NM_000785.3(CYP27B1):c.348C>T (p.His116=) http://identifiers.org/clinvar/311458 ^@ NM_002010.2(FGF9):c.*1507A>G http://identifiers.org/clinvar/310253 ^@ NM_014319.4(LEMD3):c.*915G>T http://identifiers.org/clinvar/310353 ^@ NM_000239.2(LYZ):c.*814C>A http://identifiers.org/clinvar/310453 ^@ NM_001131025.1(PEX5):c.*794_*795dupAG http://identifiers.org/clinvar/330348 ^@ NM_000208.3(INSR):c.*4474C>T http://identifiers.org/clinvar/310553 ^@ NM_020661.3(AICDA):c.*1262C>T http://identifiers.org/clinvar/337695 ^@ NM_018848.3(MKKS):c.-22A>C http://identifiers.org/clinvar/310758 ^@ NM_003276.2(TMPO):c.-58C>T http://identifiers.org/clinvar/319217 ^@ NM_032575.2(GLIS2):c.1128C>T (p.Pro376=) http://identifiers.org/clinvar/319267 ^@ NM_018206.5(VPS35):c.*761_*762dupTT http://identifiers.org/clinvar/312497 ^@ NM_052910.2(SLITRK1):c.2035A>C (p.Asn679His) http://identifiers.org/clinvar/319768 ^@ NM_004530.5(MMP2):c.1806C>T (p.Phe602=) http://identifiers.org/clinvar/312797 ^@ NM_020366.3(RPGRIP1):c.3055A>T (p.Met1019Leu) http://identifiers.org/clinvar/320418 ^@ NM_001361.4(DHODH):c.22-11C>T http://identifiers.org/clinvar/313297 ^@ NM_015915.4(ATL1):c.630+6C>A http://identifiers.org/clinvar/339085 ^@ NM_001001433.2(STX16):c.*1898A>G http://identifiers.org/clinvar/320568 ^@ NM_021615.4(CHST6):c.*1526C>T http://identifiers.org/clinvar/320768 ^@ NM_178452.5(DNAAF1):c.514C>G (p.Leu172Val) http://identifiers.org/clinvar/339385 ^@ NM_025219.2(DNAJC5):c.*1235C>T http://identifiers.org/clinvar/339435 ^@ NM_025219.2(DNAJC5):c.*4006C>T http://identifiers.org/clinvar/339535 ^@ NM_015192.3(PLCB1):c.*1434A>G http://identifiers.org/clinvar/320968 ^@ NM_001127464.2(ZNF469):c.7075C>T (p.Arg2359Cys) http://identifiers.org/clinvar/339785 ^@ NM_000219.5(KCNE1):c.-464G>A http://identifiers.org/clinvar/339885 ^@ NM_144492.2(CLDN14):c.*51G>A http://identifiers.org/clinvar/340285 ^@ NM_130445.3(COL18A1):c.*369C>T http://identifiers.org/clinvar/340335 ^@ NM_001848.2(COL6A1):c.*199A>G http://identifiers.org/clinvar/321832 ^@ NM_001303.3(COX10):c.*646C>G http://identifiers.org/clinvar/326420 ^@ NM_177986.4(DSG4):c.417G>C (p.Arg139Ser) http://identifiers.org/clinvar/342225 ^@ NM_000487.5(ARSA):c.*503A>G http://identifiers.org/clinvar/328409 ^@ NM_000435.2(NOTCH3):c.1690G>A (p.Ala564Thr) http://identifiers.org/clinvar/328509 ^@ NM_000215.3(JAK3):c.1794G>C (p.Met598Ile) http://identifiers.org/clinvar/328559 ^@ NM_000453.2(SLC5A5):c.*289delG http://identifiers.org/clinvar/326870 ^@ NM_144612.6(LOXHD1):c.1714A>C (p.Asn572His) http://identifiers.org/clinvar/328659 ^@ NM_001031726.3(C19orf12):c.*3463G>A http://identifiers.org/clinvar/327659 ^@ NM_133459.3(CCBE1):c.*2014_*2016dupAAA http://identifiers.org/clinvar/327709 ^@ NM_133459.3(CCBE1):c.156C>T (p.Ile52=) http://identifiers.org/clinvar/328059 ^@ NM_000527.4(LDLR):c.*338G>A http://identifiers.org/clinvar/328309 ^@ NM_006563.4(KLF1):c.*263C>T http://identifiers.org/clinvar/330248 ^@ NM_006087.3(TUBB4A):c.*725G>A http://identifiers.org/clinvar/330298 ^@ NM_000064.3(C3):c.2857G>A (p.Gly953Ser) http://identifiers.org/clinvar/330398 ^@ NM_000208.3(INSR):c.*1974_*1975delAT http://identifiers.org/clinvar/328459 ^@ NM_173483.3(CYP4F22):c.*650C>T http://identifiers.org/clinvar/328809 ^@ NM_000285.3(PEPD):c.710G>A (p.Arg237His) http://identifiers.org/clinvar/328859 ^@ NM_004646.3(NPHS1):c.2961T>C (p.Tyr987=) http://identifiers.org/clinvar/329309 ^@ NM_003573.2(LTBP4):c.1726G>A (p.Val576Met) http://identifiers.org/clinvar/338634 ^@ NM_030777.3(SLC2A10):c.*2285T>G http://identifiers.org/clinvar/339185 ^@ NM_017671.4(FERMT1):c.*1299C>T http://identifiers.org/clinvar/330448 ^@ NM_000208.3(INSR):c.2946-14T>C http://identifiers.org/clinvar/339835 ^@ NM_001754.4(RUNX1):c.*2285A>C http://identifiers.org/clinvar/340035 ^@ NM_020639.2(RIPK4):c.267C>T (p.Arg89=) http://identifiers.org/clinvar/340135 ^@ NM_000211.4(ITGB2):c.*121C>T http://identifiers.org/clinvar/340185 ^@ NM_000211.4(ITGB2):c.-8C>T http://identifiers.org/clinvar/340235 ^@ NM_130445.3(COL18A1):c.2047A>C (p.Arg683=) http://identifiers.org/clinvar/339135 ^@ NM_207034.2(EDN3):c.*143C>T http://identifiers.org/clinvar/339235 ^@ NM_017671.4(FERMT1):c.64A>G (p.Asn22Asp) http://identifiers.org/clinvar/341425 ^@ NM_004737.5(LARGE1):c.*499G>A http://identifiers.org/clinvar/339485 ^@ NM_012469.3(PRPF6):c.2496T>C (p.Asp832=) http://identifiers.org/clinvar/341525 ^@ NM_002473.5(MYH9):c.1578C>G (p.Ala526=) http://identifiers.org/clinvar/341575 ^@ NM_153609.3(TMPRSS6):c.*86C>T http://identifiers.org/clinvar/341725 ^@ NM_022098.3(XPNPEP3):c.*2978G>A http://identifiers.org/clinvar/341825 ^@ NM_001429.3(EP300):c.6526C>T (p.Pro2176Ser) http://identifiers.org/clinvar/339985 ^@ NM_020639.2(RIPK4):c.*1361T>A http://identifiers.org/clinvar/341975 ^@ NM_006953.3(UPK3A):c.404G>A (p.Arg135Lys) http://identifiers.org/clinvar/342025 ^@ NM_018006.4(TRMU):c.*151C>T http://identifiers.org/clinvar/387187 ^@ NM_000093.4(COL5A1):c.655-16G>A http://identifiers.org/clinvar/379139 ^@ NM_000136.2(FANCC):c.1488C>G (p.Leu496=) http://identifiers.org/clinvar/392065 ^@ NM_020822.2(KCNT1):c.3289G>A (p.Gly1097Ser) http://identifiers.org/clinvar/391965 ^@ NM_000051.3(ATM):c.1776C>T (p.Ser592=) http://identifiers.org/clinvar/381582 ^@ NM_000264.3(PTCH1):c.4148C>T (p.Pro1383Leu) http://identifiers.org/clinvar/377840 ^@ NM_000136.2(FANCC):c.468A>G (p.Ser156=) http://identifiers.org/clinvar/388126 ^@ NM_173551.4(ANKS6):c.407A>C (p.Asp136Ala) http://identifiers.org/clinvar/381782 ^@ NM_000256.3(MYBPC3):c.2271G>A (p.Val757=) http://identifiers.org/clinvar/384037 ^@ NM_015713.4(RRM2B):c.1035C>T (p.Phe345=) http://identifiers.org/clinvar/390815 ^@ NM_006231.3(POLE):c.5037C>A (p.Arg1679=) http://identifiers.org/clinvar/378989 ^@ NM_000051.3(ATM):c.5634G>A (p.Ser1878=) http://identifiers.org/clinvar/381482 ^@ NM_000719.6(CACNA1C):c.512C>T (p.Thr171Met) http://identifiers.org/clinvar/379789 ^@ NM_130799.2(MEN1):c.781C>T (p.Gln261Ter) http://identifiers.org/clinvar/391815 ^@ NM_014191.3(SCN8A):c.4277G>A (p.Arg1426Gln) http://identifiers.org/clinvar/389176 ^@ NM_025215.5(PUS1):c.186A>G (p.Gly62=) http://identifiers.org/clinvar/377890 ^@ NM_016725.2(FOLR1):c.57A>G (p.Val19=) http://identifiers.org/clinvar/391165 ^@ NM_020822.2(KCNT1):c.2841+9C>A http://identifiers.org/clinvar/390865 ^@ NM_020297.3(ABCC9):c.1455T>G (p.Leu485=) http://identifiers.org/clinvar/391365 ^@ NM_006231.3(POLE):c.3582+9G>A http://identifiers.org/clinvar/389826 ^@ NM_001844.4(COL2A1):c.3621C>T (p.Pro1207=) http://identifiers.org/clinvar/377540 ^@ NM_001698.2(AUH):c.807G>A (p.Arg269=) http://identifiers.org/clinvar/380040 ^@ NM_004990.3(MARS):c.280-14C>T http://identifiers.org/clinvar/389276 ^@ NM_130838.1(UBE3A):c.2310C>T (p.Ile770=) http://identifiers.org/clinvar/377690 ^@ NM_006493.2(CLN5):c.320+14C>T http://identifiers.org/clinvar/381682 ^@ NM_020366.3(RPGRIP1):c.1767G>T (p.Gln589His) http://identifiers.org/clinvar/391915 ^@ NM_002471.3(MYH6):c.5163+3G>A http://identifiers.org/clinvar/384087 ^@ NM_001482.2(GATM):c.-16C>T http://identifiers.org/clinvar/378789 ^@ NM_000548.4(TSC2):c.4392C>T (p.Ser1464=) http://identifiers.org/clinvar/393054 ^@ NM_006946.2(SPTBN2):c.532G>A (p.Ala178Thr) http://identifiers.org/clinvar/389426 ^@ NM_173201.3(ATP2A1):c.1540G>C (p.Val514Leu) http://identifiers.org/clinvar/384237 ^@ NM_024698.5(SLC25A22):c.413-8G>A http://identifiers.org/clinvar/383586 ^@ NM_004863.3(SPTLC2):c.128G>C (p.Gly43Ala) http://identifiers.org/clinvar/377640 ^@ NM_004360.4(CDH1):c.1137+20G>C http://identifiers.org/clinvar/389976 ^@ NM_000431.3(MVK):c.-15+16C>T http://identifiers.org/clinvar/379489 ^@ NM_000138.4(FBN1):c.6772T>C (p.Cys2258Arg) http://identifiers.org/clinvar/392854 ^@ NM_000833.4(GRIN2A):c.2505C>T (p.Phe835=) http://identifiers.org/clinvar/74 ^@ NM_000374.4(UROD):c.583C>T (p.Leu195Phe) http://identifiers.org/clinvar/330 ^@ NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) http://identifiers.org/clinvar/381 ^@ NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) http://identifiers.org/clinvar/476 ^@ NM_000317.2(PTS):c.74G>A (p.Arg25Gln) http://identifiers.org/clinvar/554 ^@ NM_001012515.2(FECH):c.1103T>G (p.Val368Gly) http://identifiers.org/clinvar/699 ^@ NM_000512.4(GALNS):c.413T>C (p.Val138Ala) http://identifiers.org/clinvar/749 ^@ NM_015346.3(ZFYVE26):c.4312C>T (p.Arg1438Ter) http://identifiers.org/clinvar/758 ^@ NM_001160372.3(TRAPPC9):c.1129C>T (p.Arg377Ter) http://identifiers.org/clinvar/767 ^@ NM_015702.2(MMADHC):c.748C>T (p.Arg250Ter) http://identifiers.org/clinvar/799 ^@ NM_000038.5(APC):c.839C>G (p.Ser280Ter) http://identifiers.org/clinvar/817 ^@ NM_000038.5(APC):c.4183A>T (p.Ser1395Cys) http://identifiers.org/clinvar/2191 ^@ NM_207352.3(CYP4V2):c.1091-2A>G http://identifiers.org/clinvar/2236 ^@ NM_000551.3(VHL):c.250G>T (p.Val84Leu) http://identifiers.org/clinvar/2281 ^@ NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) http://identifiers.org/clinvar/2327 ^@ NM_033071.3(SYNE1):c.8716A>T (p.Arg2906Ter) http://identifiers.org/clinvar/2602 ^@ NM_058172.5(ANTXR2):c.658G>T (p.Glu220Ter) http://identifiers.org/clinvar/2649 ^@ NM_000391.3(TPP1):c.887-10A>G http://identifiers.org/clinvar/2694 ^@ NM_017436.5(A4GALT):c.783G>A (p.Trp261Ter) http://identifiers.org/clinvar/2740 ^@ NM_004183.3(BEST1):c.422G>A (p.Arg141His) http://identifiers.org/clinvar/2786 ^@ NM_000158.3(GBE1):c.1774G>T (p.Glu592Ter) http://identifiers.org/clinvar/2830 ^@ VPS13B, EX46-50DEL http://identifiers.org/clinvar/2876 ^@ NM_174936.3(PCSK9):c.426C>G (p.Tyr142Ter) http://identifiers.org/clinvar/2921 ^@ NM_024077.4(SECISBP2):c.1212+29G>A http://identifiers.org/clinvar/2967 ^@ NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) http://identifiers.org/clinvar/3011 ^@ NM_133497.3(KCNV2):c.916G>T (p.Glu306Ter) http://identifiers.org/clinvar/3061 ^@ NM_000487.5(ARSA):c.263G>A (p.Gly88Asp) http://identifiers.org/clinvar/3109 ^@ NM_139319.2(SLC17A8):c.632C>T (p.Ala211Val) http://identifiers.org/clinvar/3160 ^@ NM_172250.2(MMAA):c.433C>T (p.Arg145Ter) http://identifiers.org/clinvar/3206 ^@ NM_001079802.1(FKTN):c.346C>T (p.Gln116Ter) http://identifiers.org/clinvar/3255 ^@ NM_007171.3(POMT1):c.2167dupG (p.Asp723Glyfs) http://identifiers.org/clinvar/3345 ^@ NM_000348.3(SRD5A2):c.586G>A (p.Gly196Ser) http://identifiers.org/clinvar/10170 ^@ NM_000132.3(F8):c.388G>C (p.Gly130Arg) http://identifiers.org/clinvar/10215 ^@ NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) http://identifiers.org/clinvar/37390 ^@ NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) http://identifiers.org/clinvar/37442 ^@ NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr) http://identifiers.org/clinvar/51235 ^@ NM_000059.3(BRCA2):c.2003G>A (p.Arg668Lys) http://identifiers.org/clinvar/51286 ^@ NM_000059.3(BRCA2):c.2442delC (p.Met815Trpfs) http://identifiers.org/clinvar/51337 ^@ NM_000059.3(BRCA2):c.2760delC (p.Ile921Phefs) http://identifiers.org/clinvar/51387 ^@ NM_000059.3(BRCA2):c.3018delA (p.Gly1007Valfs) http://identifiers.org/clinvar/52252 ^@ NM_000059.3(BRCA2):c.702delC (p.Asn235Ilefs) http://identifiers.org/clinvar/52303 ^@ NM_000059.3(BRCA2):c.72A>T (p.Leu24Phe) http://identifiers.org/clinvar/52353 ^@ NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) http://identifiers.org/clinvar/52404 ^@ NM_000059.3(BRCA2):c.7761delC (p.Ile2588Tyrfs) http://identifiers.org/clinvar/52454 ^@ NM_000059.3(BRCA2):c.7976+3_7976+4delAA http://identifiers.org/clinvar/52504 ^@ NM_000059.3(BRCA2):c.8098A>C (p.Ile2700Leu) http://identifiers.org/clinvar/52555 ^@ NM_000059.3(BRCA2):c.8332-66T>C http://identifiers.org/clinvar/52605 ^@ NM_000059.3(BRCA2):c.8489G>A (p.Trp2830Ter) http://identifiers.org/clinvar/52657 ^@ NM_000059.3(BRCA2):c.8676delA (p.Arg2892Serfs) http://identifiers.org/clinvar/52707 ^@ NM_000059.3(BRCA2):c.8950delT (p.Ser2984Glnfs) http://identifiers.org/clinvar/52758 ^@ NM_000059.3(BRCA2):c.9118-14T>C http://identifiers.org/clinvar/52809 ^@ NM_000059.3(BRCA2):c.9301C>G (p.Leu3101Val) http://identifiers.org/clinvar/52860 ^@ NM_000059.3(BRCA2):c.9507delT (p.Ile3169Metfs) http://identifiers.org/clinvar/52910 ^@ NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) http://identifiers.org/clinvar/52960 ^@ NM_000218.2(KCNQ1):c.1115C>A (p.Ala372Asp) http://identifiers.org/clinvar/53010 ^@ NM_000218.2(KCNQ1):c.1703G>C (p.Gly568Ala) http://identifiers.org/clinvar/53060 ^@ NM_000218.2(KCNQ1):c.521G>C (p.Arg174Pro) http://identifiers.org/clinvar/53110 ^@ NM_000218.2(KCNQ1):c.818T>G (p.Leu273Arg) http://identifiers.org/clinvar/53162 ^@ NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) http://identifiers.org/clinvar/53214 ^@ NM_000492.3(CFTR):c.1209+1G>A http://identifiers.org/clinvar/53266 ^@ NM_000492.3(CFTR):c.148T>C (p.Ser50Pro) http://identifiers.org/clinvar/53317 ^@ NM_000492.3(CFTR):c.165-3C>T http://identifiers.org/clinvar/53367 ^@ NM_000492.3(CFTR):c.1740dupT (p.Leu581Phefs) http://identifiers.org/clinvar/53417 ^@ NM_000492.3(CFTR):c.1973_1985delGAAATTCAATCCTinsAGAAA (p.Arg658Lysfs) http://identifiers.org/clinvar/53471 ^@ NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) http://identifiers.org/clinvar/53522 ^@ NM_000492.3(CFTR):c.2601dupA (p.Val868Serfs) http://identifiers.org/clinvar/54374 ^@ NM_007294.3(BRCA1):c.1870G>A (p.Glu624Lys) http://identifiers.org/clinvar/54424 ^@ NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) http://identifiers.org/clinvar/54474 ^@ NM_007294.3(BRCA1):c.2130T>G (p.Thr710=) http://identifiers.org/clinvar/54524 ^@ NM_007294.3(BRCA1):c.2293G>T (p.Glu765Ter) http://identifiers.org/clinvar/54574 ^@ NM_007294.3(BRCA1):c.2468delG (p.Arg823Lysfs) http://identifiers.org/clinvar/54824 ^@ NM_007294.3(BRCA1):c.3296delC (p.Pro1099Leufs) http://identifiers.org/clinvar/54874 ^@ NM_007294.3(BRCA1):c.3416delG (p.Ser1139Ilefs) http://identifiers.org/clinvar/54924 ^@ NM_007294.3(BRCA1):c.3586dupA (p.Thr1196Asnfs) http://identifiers.org/clinvar/54976 ^@ NM_007294.3(BRCA1):c.3715delT (p.Ser1239Leufs) http://identifiers.org/clinvar/55027 ^@ NM_007294.3(BRCA1):c.3845A>T (p.Glu1282Val) http://identifiers.org/clinvar/55077 ^@ NM_007294.3(BRCA1):c.4031A>G (p.Asp1344Gly) http://identifiers.org/clinvar/55128 ^@ NM_007294.3(BRCA1):c.4185+1G>T http://identifiers.org/clinvar/55179 ^@ NM_007294.3(BRCA1):c.4357+1delG http://identifiers.org/clinvar/55230 ^@ NM_007294.3(BRCA1):c.4575_4585delAGAGGAGCTCA (p.Gln1525Hisfs) http://identifiers.org/clinvar/55280 ^@ NM_007294.3(BRCA1):c.4754_4755delCA (p.Pro1585Argfs) http://identifiers.org/clinvar/55331 ^@ NM_007294.3(BRCA1):c.4957G>A (p.Val1653Met) http://identifiers.org/clinvar/55381 ^@ NM_007294.3(BRCA1):c.5075-4G>A http://identifiers.org/clinvar/55431 ^@ NM_007294.3(BRCA1):c.5153-2delA http://identifiers.org/clinvar/55481 ^@ NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) http://identifiers.org/clinvar/55534 ^@ NM_007294.3(BRCA1):c.5333-1G>C http://identifiers.org/clinvar/55584 ^@ NM_007294.3(BRCA1):c.5450_5451delAG (p.Glu1817Glyfs) http://identifiers.org/clinvar/55634 ^@ NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) http://identifiers.org/clinvar/55687 ^@ NM_007294.3(BRCA1):c.743C>A (p.Thr248Asn) http://identifiers.org/clinvar/55738 ^@ NM_007294.3(BRCA1):c.850C>T (p.Gln284Ter) http://identifiers.org/clinvar/55805 ^@ NM_001142864.3(PIEZO1):c.6674T>G (p.Met2225Arg) http://identifiers.org/clinvar/55945 ^@ NM_000027.3(AGA):c.395-8A>G http://identifiers.org/clinvar/55996 ^@ NM_000111.2(SLC26A3):c.344delT (p.Ile115Thrfs) http://identifiers.org/clinvar/56049 ^@ NM_000170.2(GLDC):c.176G>C (p.Arg59Thr) http://identifiers.org/clinvar/56100 ^@ NM_000170.2(GLDC):c.560C>A (p.Thr187Lys) http://identifiers.org/clinvar/56154 ^@ NM_014585.5(SLC40A1):c.1112G>A (p.Arg371Gln) http://identifiers.org/clinvar/56205 ^@ NM_000310.3(PPT1):c.558G>A (p.Trp186Ter) http://identifiers.org/clinvar/56256 ^@ NM_001042432.1(CLN3):c.1272delG (p.Leu425Serfs) http://identifiers.org/clinvar/56306 ^@ NM_001080522.2(CC2D2A):c.3522_3523insTG (p.His1175Cysfs) http://identifiers.org/clinvar/57178 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25299502-25507576)x1 http://identifiers.org/clinvar/57230 ^@ GRCh38/hg38 3p26.3(chr3:868334-1341994)x1 http://identifiers.org/clinvar/57283 ^@ GRCh38/hg38 6p25.3(chr6:293441-389482)x1 http://identifiers.org/clinvar/57336 ^@ GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 http://identifiers.org/clinvar/57389 ^@ GRCh38/hg38 3p26.3(chr3:137074-190872)x1 http://identifiers.org/clinvar/101156 ^@ NM_000090.3(COL3A1):c.755G>T (p.Gly252Val) http://identifiers.org/clinvar/101206 ^@ NM_000090.3(COL3A1):c.582+1G>C (p.Gly177_Pro194del) http://identifiers.org/clinvar/101256 ^@ NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu) http://identifiers.org/clinvar/101306 ^@ NM_000090.3(COL3A1):c.620G>T (p.Gly207Val) http://identifiers.org/clinvar/101356 ^@ NM_000090.3(COL3A1):c.728G>T (p.Gly243Val) http://identifiers.org/clinvar/101406 ^@ NM_000090.3(COL3A1):c.1925G>T (p.Gly642Val) http://identifiers.org/clinvar/101456 ^@ NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg) http://identifiers.org/clinvar/101508 ^@ NM_173812.4(DPY19L2):c.892C>T (p.Arg298Cys) http://identifiers.org/clinvar/102524 ^@ NM_000277.1(PAH):c.1099delC (p.Leu367Trpfs) http://identifiers.org/clinvar/102577 ^@ NM_000277.1(PAH):c.1242C>T (p.Tyr414=) http://identifiers.org/clinvar/102631 ^@ NM_000277.1(PAH):c.208T>C (p.Ser70Pro) http://identifiers.org/clinvar/102684 ^@ NM_000277.1(PAH):c.460T>A (p.Tyr154Asn) http://identifiers.org/clinvar/102734 ^@ NM_000277.1(PAH):c.558_559delAT (p.Trp187Glyfs) http://identifiers.org/clinvar/102785 ^@ NM_000277.1(PAH):c.689T>G (p.Val230Gly) http://identifiers.org/clinvar/102835 ^@ NM_000277.1(PAH):c.793T>G (p.Cys265Gly) http://identifiers.org/clinvar/102887 ^@ NM_000277.1(PAH):c.899C>T (p.Ala300Val) http://identifiers.org/clinvar/102945 ^@ NM_001282358.1(NLRX1):c.-175G>A http://identifiers.org/clinvar/102995 ^@ NM_000246.3(CIITA):c.1957C>A (p.Pro653Thr) http://identifiers.org/clinvar/103045 ^@ NM_001079821.2(NLRP3):c.404-85C>T http://identifiers.org/clinvar/103095 ^@ NM_006092.2(NOD1):c.2202-27C>T http://identifiers.org/clinvar/103145 ^@ NM_024618.3(NLRX1):c.560G>A (p.Arg187Gln) http://identifiers.org/clinvar/103195 ^@ NM_032206.4(NLRC5):c.4365C>T (p.Val1455=) http://identifiers.org/clinvar/103245 ^@ NM_138329.2(NLRP6):c.29+222A>G http://identifiers.org/clinvar/103295 ^@ NM_153447.4(NLRP5):c.565+81G>A http://identifiers.org/clinvar/103345 ^@ NM_176822.3(NLRP14):c.2291+112T>A http://identifiers.org/clinvar/111219 ^@ NM_000416.2(IFNGR1):c.86-76C>T http://identifiers.org/clinvar/111269 ^@ NM_006068.4(TLR6):c.1325A>C (p.Asp442Ala) http://identifiers.org/clinvar/120231 ^@ NM_017637.5(BNC2):c.1738G>A (p.Gly580Arg) http://identifiers.org/clinvar/125660 ^@ NM_007294.3(BRCA1):c.288_292delCACAGins7 http://identifiers.org/clinvar/125722 ^@ NM_007294.3(BRCA1):c.4675+3A>T http://identifiers.org/clinvar/125793 ^@ NM_007294.3(BRCA1):c.5193+101T>C http://identifiers.org/clinvar/125860 ^@ NM_007294.3(BRCA1):c.441+41C>T http://identifiers.org/clinvar/125922 ^@ BRCA2: exon 2 deletion http://identifiers.org/clinvar/159938 ^@ NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) http://identifiers.org/clinvar/160358 ^@ NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) http://identifiers.org/clinvar/160813 ^@ GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3 http://identifiers.org/clinvar/160864 ^@ GRCh38/hg38 1p35.3-35.2(chr1:29860227-30448676)x3 http://identifiers.org/clinvar/160916 ^@ GRCh38/hg38 17q12(chr17:35360337-35411448)x1 http://identifiers.org/clinvar/160968 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 http://identifiers.org/clinvar/161069 ^@ GRCh38/hg38 2q13(chr2:110104900-110371270)x3 http://identifiers.org/clinvar/161402 ^@ NM_000551.3(VHL):c.154G>A (p.Glu52Lys) http://identifiers.org/clinvar/161351 ^@ NM_000313.3(PROS1):c.1331C>T (p.Pro444Leu) http://identifiers.org/clinvar/161301 ^@ NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) http://identifiers.org/clinvar/161470 ^@ NM_000554.5(CRX):c.107C>A (p.Pro36His) http://identifiers.org/clinvar/178120 ^@ NM_001035.2(RYR2):c.4465T>C (p.Cys1489Arg) http://identifiers.org/clinvar/178878 ^@ NM_144573.3(NEXN):c.1252-10T>G http://identifiers.org/clinvar/163413 ^@ NM_031475.2(ESPN):c.1104T>G (p.Phe368Leu) http://identifiers.org/clinvar/179578 ^@ NM_133378.4(TTN):c.91163T>C (p.Met30388Thr) http://identifiers.org/clinvar/178170 ^@ NM_133378.4(TTN):c.84751G>A (p.Val28251Ile) http://identifiers.org/clinvar/179228 ^@ NM_133378.4(TTN):c.75700A>G (p.Ile25234Val) http://identifiers.org/clinvar/180028 ^@ NM_133378.4(TTN):c.62427A>G (p.Thr20809=) http://identifiers.org/clinvar/179078 ^@ NM_001256850.1(TTN):c.101198T>A (p.Phe33733Tyr) http://identifiers.org/clinvar/179178 ^@ NM_133378.4(TTN):c.56537G>A (p.Arg18846His) http://identifiers.org/clinvar/179128 ^@ NM_133378.4(TTN):c.74197G>A (p.Gly24733Ser) http://identifiers.org/clinvar/179628 ^@ NM_133378.4(TTN):c.29440+15delA http://identifiers.org/clinvar/178220 ^@ NM_133378.4(TTN):c.33269A>G (p.Lys11090Arg) http://identifiers.org/clinvar/179528 ^@ NM_133379.4(TTN):c.12887C>T (p.Pro4296Leu) http://identifiers.org/clinvar/178270 ^@ NM_133378.4(TTN):c.7157G>A (p.Gly2386Asp) http://identifiers.org/clinvar/164842 ^@ NM_194248.2(OTOF):c.4500+11C>T http://identifiers.org/clinvar/179978 ^@ NM_133378.4(TTN):c.2143A>G (p.Arg715Gly) http://identifiers.org/clinvar/179828 ^@ NM_194248.2(OTOF):c.2977_2978delAG (p.Gln994Valfs) http://identifiers.org/clinvar/163303 ^@ NM_003494.3(DYSF):c.3702+9G>T http://identifiers.org/clinvar/163139 ^@ NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) http://identifiers.org/clinvar/179378 ^@ NM_002880.3(RAF1):c.1688G>A (p.Arg563Gln) http://identifiers.org/clinvar/178777 ^@ NM_032383.4(HPS3):c.981A>G (p.Thr327=) http://identifiers.org/clinvar/177717 ^@ NM_000441.1(SLC26A4):c.2211G>C (p.Glu737Asp) http://identifiers.org/clinvar/178727 ^@ NM_001277115.1(DNAH11):c.6970C>G (p.Leu2324Val) http://identifiers.org/clinvar/163498 ^@ NM_021167.4(GATAD1):c.603C>T (p.Pro201=) http://identifiers.org/clinvar/163600 ^@ NM_032119.3(ADGRV1):c.12121-13T>C http://identifiers.org/clinvar/198475 ^@ NM_001918.3(DBT):c.917C>G (p.Ser306Cys) http://identifiers.org/clinvar/198580 ^@ NM_020631.4(PLEKHG5):c.518G>A (p.Arg173Gln) http://identifiers.org/clinvar/198633 ^@ NM_201253.2(CRB1):c.2462C>T (p.Thr821Met) http://identifiers.org/clinvar/198950 ^@ NM_032119.3(ADGRV1):c.17735C>G (p.Ser5912Cys) http://identifiers.org/clinvar/199002 ^@ NM_000271.4(NPC1):c.1503C>T (p.Asp501=) http://identifiers.org/clinvar/199052 ^@ NM_001044.4(SLC6A3):c.1215A>G (p.Ser405=) http://identifiers.org/clinvar/199105 ^@ NM_005199.4(CHRNG):c.951C>A (p.Ile317=) http://identifiers.org/clinvar/199157 ^@ NM_020549.4(CHAT):c.1381A= (p.Met461=) http://identifiers.org/clinvar/199212 ^@ NM_000540.2(RYR1):c.13142C>G (p.Ala4381Gly) http://identifiers.org/clinvar/199433 ^@ NM_005045.3(RELN):c.8347G>T (p.Gly2783Cys) http://identifiers.org/clinvar/200958 ^@ NM_170707.3(LMNA):c.586_596delAGGCTGCAGAC (p.Arg196Hisfs) http://identifiers.org/clinvar/201149 ^@ NM_001035.2(RYR2):c.309+5G>T http://identifiers.org/clinvar/201206 ^@ NM_001035.2(RYR2):c.963A>T (p.Lys321Asn) http://identifiers.org/clinvar/201372 ^@ NM_001035.2(RYR2):c.1178T>G (p.Met393Arg) http://identifiers.org/clinvar/201262 ^@ NM_001035.2(RYR2):c.6445A>G (p.Ile2149Val) http://identifiers.org/clinvar/201316 ^@ NM_001035.2(RYR2):c.11919T>G (p.Asp3973Glu) http://identifiers.org/clinvar/199712 ^@ NM_000090.3(COL3A1):c.586T>C (p.Ser196Pro) http://identifiers.org/clinvar/199877 ^@ NM_004415.3(DSP):c.2985G>A (p.Glu995=) http://identifiers.org/clinvar/199934 ^@ NM_004415.3(DSP):c.3800G>A (p.Arg1267Gln) http://identifiers.org/clinvar/200529 ^@ NM_000238.3(KCNH2):c.3247A>G (p.Thr1083Ala) http://identifiers.org/clinvar/200654 ^@ NM_000238.3(KCNH2):c.2456delA (p.Asn819Thrfs) http://identifiers.org/clinvar/200763 ^@ NM_000238.3(KCNH2):c.2168G>A (p.Cys723Tyr) http://identifiers.org/clinvar/200228 ^@ NM_000238.3(KCNH2):c.1692A>G (p.Leu564=) http://identifiers.org/clinvar/200350 ^@ NM_000238.3(KCNH2):c.1519C>T (p.Pro507Ser) http://identifiers.org/clinvar/200899 ^@ NM_000218.2(KCNQ1):c.806G>T (p.Gly269Val) http://identifiers.org/clinvar/200843 ^@ NM_000218.2(KCNQ1):c.1383T>A (p.Tyr461Ter) http://identifiers.org/clinvar/200102 ^@ NM_000138.4(FBN1):c.7051G>A (p.Gly2351Ser) http://identifiers.org/clinvar/200049 ^@ NM_000138.4(FBN1):c.4520G>A (p.Gly1507Asp) http://identifiers.org/clinvar/200162 ^@ NM_000138.4(FBN1):c.4429dupG (p.Glu1477Glyfs) http://identifiers.org/clinvar/199993 ^@ NM_000138.4(FBN1):c.2227C>T (p.Arg743Cys) http://identifiers.org/clinvar/201087 ^@ NM_002474.2(MYH11):c.5573T>G (p.Val1858Gly) http://identifiers.org/clinvar/201034 ^@ NM_001040113.1(MYH11):c.4137+11delC http://identifiers.org/clinvar/199767 ^@ NM_024422.4(DSC2):c.1352C>T (p.Ser451Leu) http://identifiers.org/clinvar/199823 ^@ NM_001943.4(DSG2):c.601_605delGTATC (p.Val201Serfs) http://identifiers.org/clinvar/202148 ^@ NM_014000.2(VCL):c.2435-1G>A http://identifiers.org/clinvar/202034 ^@ NM_004572.3(PKP2):c.968_971delAGGCinsGCCT (p.Gln323_Ala324delinsArgLeu) http://identifiers.org/clinvar/201972 ^@ NM_004572.3(PKP2):c.466C>G (p.Pro156Ala) http://identifiers.org/clinvar/202091 ^@ NM_000116.4(TAZ):c.154G>T (p.Glu52Ter) http://identifiers.org/clinvar/202202 ^@ NM_000038.5(APC):c.170A>T (p.Asp57Val) http://identifiers.org/clinvar/203096 ^@ NM_001256850.1(TTN):c.100507G>A (p.Glu33503Lys) http://identifiers.org/clinvar/203046 ^@ NM_001256850.1(TTN):c.94355C>G (p.Thr31452Ser) http://identifiers.org/clinvar/202996 ^@ NM_001256850.1(TTN):c.88963G>A (p.Val29655Ile) http://identifiers.org/clinvar/202946 ^@ NM_001256850.1(TTN):c.83075T>C (p.Ile27692Thr) http://identifiers.org/clinvar/202487 ^@ NM_001256850.1(TTN):c.82925delT (p.Leu27642Tyrfs) http://identifiers.org/clinvar/202896 ^@ NM_001256850.1(TTN):c.74986G>A (p.Val24996Ile) http://identifiers.org/clinvar/202846 ^@ NM_001256850.1(TTN):c.68020T>C (p.Tyr22674His) http://identifiers.org/clinvar/202325 ^@ NM_001256850.1(TTN):c.67141G>A (p.Asp22381Asn) http://identifiers.org/clinvar/202796 ^@ NM_001256850.1(TTN):c.60853G>A (p.Val20285Met) http://identifiers.org/clinvar/233514 ^@ NM_000038.5(APC):c.4706_4707delAT (p.Asp1569Glyfs) http://identifiers.org/clinvar/230774 ^@ NM_000038.5(APC):c.5104G>A (p.Gly1702Arg) http://identifiers.org/clinvar/233816 ^@ NM_000038.5(APC):c.5795C>T (p.Thr1932Ile) http://identifiers.org/clinvar/231624 ^@ NM_000038.5(APC):c.6248T>C (p.Ile2083Thr) http://identifiers.org/clinvar/233967 ^@ NM_005732.3(RAD50):c.109C>T (p.Pro37Ser) http://identifiers.org/clinvar/231374 ^@ NM_005732.3(RAD50):c.2403A>G (p.Glu801=) http://identifiers.org/clinvar/230674 ^@ NM_005732.3(RAD50):c.3372T>A (p.Tyr1124Ter) http://identifiers.org/clinvar/231674 ^@ NM_005732.3(RAD50):c.3559G>T (p.Val1187Leu) http://identifiers.org/clinvar/230824 ^@ NM_000535.6(PMS2):c.1439G>C (p.Gly480Ala) http://identifiers.org/clinvar/231124 ^@ NM_000535.6(PMS2):c.789G>A (p.Leu263=) http://identifiers.org/clinvar/231474 ^@ NM_000535.6(PMS2):c.267A>G (p.Thr89=) http://identifiers.org/clinvar/231774 ^@ NM_058195.3(CDKN2A):c.26T>C (p.Leu9Pro) http://identifiers.org/clinvar/234017 ^@ NM_004329.2(BMPR1A):c.1260C>A (p.Asn420Lys) http://identifiers.org/clinvar/231324 ^@ NM_000051.3(ATM):c.1051G>A (p.Asp351Asn) http://identifiers.org/clinvar/231524 ^@ NM_000051.3(ATM):c.8015A>C (p.Asp2672Ala) http://identifiers.org/clinvar/230874 ^@ NM_000051.3(ATM):c.8847A>G (p.Val2949=) http://identifiers.org/clinvar/231874 ^@ NM_005591.3(MRE11):c.766A>G (p.Asn256Asp) http://identifiers.org/clinvar/231724 ^@ NM_000059.3(BRCA2):c.2651C>G (p.Ser884Ter) http://identifiers.org/clinvar/231574 ^@ NM_000059.3(BRCA2):c.5308delT (p.Ser1770Leufs) http://identifiers.org/clinvar/234217 ^@ NM_000059.3(BRCA2):c.9195T>C (p.Phe3065=) http://identifiers.org/clinvar/230974 ^@ NM_000548.4(TSC2):c.360_361delAG (p.Arg120Serfs) http://identifiers.org/clinvar/233664 ^@ NM_024675.3(PALB2):c.2739C>G (p.His913Gln) http://identifiers.org/clinvar/231274 ^@ NM_144997.5(FLCN):c.779+1G>T http://identifiers.org/clinvar/230574 ^@ NM_001042492.2(NF1):c.1310T>A (p.Val437Asp) http://identifiers.org/clinvar/231024 ^@ NM_001042492.2(NF1):c.1662G>T (p.Gln554His) http://identifiers.org/clinvar/234167 ^@ NM_002878.3(RAD51D):c.663G>A (p.Arg221=) http://identifiers.org/clinvar/230624 ^@ NM_007294.3(BRCA1):c.5135G>A (p.Trp1712Ter) http://identifiers.org/clinvar/233614 ^@ NM_007294.3(BRCA1):c.3234A>G (p.Pro1078=) http://identifiers.org/clinvar/233464 ^@ NM_007294.3(BRCA1):c.466C>A (p.Leu156Ile) http://identifiers.org/clinvar/233766 ^@ NM_058216.2(RAD51C):c.145+1G>T http://identifiers.org/clinvar/230724 ^@ NM_032043.2(BRIP1):c.3475G>A (p.Ala1159Thr) http://identifiers.org/clinvar/231974 ^@ NM_032043.2(BRIP1):c.3234G>A (p.Lys1078=) http://identifiers.org/clinvar/234067 ^@ NM_000546.5(TP53):c.930C>A (p.Asn310Lys) http://identifiers.org/clinvar/235589 ^@ NM_012330.3(KAT6B):c.2248C>A (p.Leu750Met) http://identifiers.org/clinvar/235639 ^@ NM_000552.4(VWF):c.7997C>T (p.Thr2666Met) http://identifiers.org/clinvar/235694 ^@ NM_000383.3(AIRE):c.497C>T (p.Pro166Leu) http://identifiers.org/clinvar/235756 ^@ NM_014639.3(TTC37):c.4187A>G (p.Asn1396Ser) http://identifiers.org/clinvar/235829 ^@ NM_002470.3(MYH3):c.3214_3216dupAAT (p.Asn1072_Asp1073insAsn) http://identifiers.org/clinvar/235901 ^@ NM_005121.2(MED13):c.4198C>T (p.Arg1400Ter) http://identifiers.org/clinvar/236063 ^@ NC_000009.11:g.71705804_71974823invdup http://identifiers.org/clinvar/236113 ^@ NM_000350.2(ABCA4):c.4352+1G>A http://identifiers.org/clinvar/236163 ^@ NM_004621.5(TRPC6):c.2022T>C (p.Ser674=) http://identifiers.org/clinvar/236239 ^@ NM_001183.5(ATP6AP1):c.1284G>A (p.Met428Ile) http://identifiers.org/clinvar/236302 ^@ NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) http://identifiers.org/clinvar/236352 ^@ NC_000003.10:g.2644708_2796443del151736 http://identifiers.org/clinvar/236402 ^@ NM_000157.3(GBA):c.1459G>A (p.Ala487Thr) http://identifiers.org/clinvar/236453 ^@ NM_006343.2(MERTK):c.2302G>A (p.Ala768Thr) http://identifiers.org/clinvar/236503 ^@ NM_020366.3(RPGRIP1):c.2608_2609insA (p.Leu870Tyrfs) http://identifiers.org/clinvar/239453 ^@ NM_003001.3(SDHC):c.295T>C (p.Tyr99His) http://identifiers.org/clinvar/241493 ^@ NM_024529.4(CDC73):c.131+4A>G http://identifiers.org/clinvar/240643 ^@ NM_006279.3(ST3GAL3):c.397+3A>G http://identifiers.org/clinvar/239553 ^@ NM_003738.4(PTCH2):c.1080G>T (p.Val360=) http://identifiers.org/clinvar/254095 ^@ NM_002977.3(SCN9A):c.2428G>A (p.Val810Met) http://identifiers.org/clinvar/238849 ^@ NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) http://identifiers.org/clinvar/238799 ^@ NM_001267550.2(TTN):c.55851G>C (p.Glu18617Asp) http://identifiers.org/clinvar/238749 ^@ NM_001267550.2(TTN):c.34708+8C>A http://identifiers.org/clinvar/238699 ^@ NM_001267550.2(TTN):c.10608G>A (p.Gln3536=) http://identifiers.org/clinvar/239803 ^@ NM_004304.4(ALK):c.2239G>A (p.Gly747Arg) http://identifiers.org/clinvar/237209 ^@ NM_000179.2(MSH6):c.474A>G (p.Glu158=) http://identifiers.org/clinvar/237158 ^@ NM_000179.2(MSH6):c.2479A>G (p.Asn827Asp) http://identifiers.org/clinvar/240993 ^@ NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) http://identifiers.org/clinvar/236603 ^@ NM_000038.5(APC):c.4676C>T (p.Ser1559Phe) http://identifiers.org/clinvar/236653 ^@ NM_000038.5(APC):c.8203G>C (p.Gly2735Arg) http://identifiers.org/clinvar/239503 ^@ NM_003122.4(SPINK1):c.-147A>G http://identifiers.org/clinvar/239653 ^@ NM_004168.3(SDHA):c.1653G>A (p.Thr551=) http://identifiers.org/clinvar/238649 ^@ NM_001206927.1(DNAH8):c.4908G>T (p.Glu1636Asp) http://identifiers.org/clinvar/241843 ^@ NM_138694.3(PKHD1):c.2853C>T (p.Thr951=) http://identifiers.org/clinvar/241393 ^@ NM_021930.5(RINT1):c.113T>C (p.Ile38Thr) http://identifiers.org/clinvar/241093 ^@ NM_016203.3(PRKAG2):c.1378C>G (p.Leu460Val) http://identifiers.org/clinvar/238899 ^@ NM_001277115.1(DNAH11):c.13473_*75dup154 http://identifiers.org/clinvar/256063 ^@ NM_000426.3(LAMA2):c.3037+49G>A http://identifiers.org/clinvar/259352 ^@ NM_004370.5(COL12A1):c.834T>G (p.Ala278=) http://identifiers.org/clinvar/258802 ^@ NM_002769.4(PRSS1):c.623G>C (p.Gly208Ala) http://identifiers.org/clinvar/256163 ^@ NM_000443.3(ABCB4):c.3381C>T (p.Ala1127=) http://identifiers.org/clinvar/255174 ^@ NM_000127.2(EXT1):c.1633-26C>A http://identifiers.org/clinvar/259002 ^@ NM_003235.4(TG):c.7589G>A (p.Arg2530Gln) http://identifiers.org/clinvar/259803 ^@ NM_005592.3(MUSK):c.1743C>A (p.Ile581=) http://identifiers.org/clinvar/255074 ^@ NM_000093.4(COL5A1):c.3006+17C>T http://identifiers.org/clinvar/259552 ^@ NM_004817.3(TJP2):c.2275+16T>G http://identifiers.org/clinvar/255274 ^@ NM_000136.2(FANCC):c.1161C>T (p.Cys387=) http://identifiers.org/clinvar/259452 ^@ NM_004612.3(TGFBR1):c.1497A>G (p.Glu499=) http://identifiers.org/clinvar/256263 ^@ NM_000494.3(COL17A1):c.1062C>T (p.Ala354=) http://identifiers.org/clinvar/256013 ^@ NM_000399.4(EGR2):c.1086A>C (p.Arg362=) http://identifiers.org/clinvar/256813 ^@ NM_000795.3(DRD2):c.932C>G (p.Ser311Cys) http://identifiers.org/clinvar/256313 ^@ NM_000506.4(F2):c.1602G>A (p.Pro534=) http://identifiers.org/clinvar/256113 ^@ NM_000431.3(MVK):c.371+8C>T http://identifiers.org/clinvar/256663 ^@ NM_000552.4(VWF):c.3240T>C (p.Tyr1080=) http://identifiers.org/clinvar/257113 ^@ NM_001024858.2(SPTB):c.4143C>T (p.Ser1381=) http://identifiers.org/clinvar/259653 ^@ NM_005159.4(ACTC1):c.129+32C>A http://identifiers.org/clinvar/254874 ^@ NM_000070.2(CAPN3):c.498+35G>T http://identifiers.org/clinvar/332498 ^@ NM_002148.3(HOXD10):c.*231_*234delTATA http://identifiers.org/clinvar/334949 ^@ NM_152383.4(DIS3L2):c.*13G>A http://identifiers.org/clinvar/335049 ^@ NM_002242.4(KCNJ13):c.*135A>G http://identifiers.org/clinvar/335849 ^@ NM_014946.3(SPAST):c.*591A>T http://identifiers.org/clinvar/335199 ^@ NM_004544.3(NDUFA10):c.*105G>A http://identifiers.org/clinvar/335249 ^@ NM_004321.7(KIF1A):c.*241C>G http://identifiers.org/clinvar/335599 ^@ NM_001029883.2(C2orf71):c.*1663C>T http://identifiers.org/clinvar/336506 ^@ NM_001135659.2(NRXN1):c.*2387_*2389dupGAT http://identifiers.org/clinvar/335699 ^@ NM_004304.4(ALK):c.2901C>A (p.Thr967=) http://identifiers.org/clinvar/335749 ^@ NM_000379.3(XDH):c.*707_*708delCT http://identifiers.org/clinvar/335999 ^@ NM_005633.3(SOS1):c.*1224A>G http://identifiers.org/clinvar/336856 ^@ NM_002056.3(GFPT1):c.*1053G>A http://identifiers.org/clinvar/336906 ^@ NM_001004311.3(FIGLA):c.566G>A (p.Ser189Asn) http://identifiers.org/clinvar/337056 ^@ NM_212552.2(BOLA3):c.256C>G (p.Gln86Glu) http://identifiers.org/clinvar/337106 ^@ NM_006302.2(MOGS):c.1851T>A (p.His617Gln) http://identifiers.org/clinvar/337156 ^@ NM_003849.3(SUCLG1):c.395C>G (p.Ala132Gly) http://identifiers.org/clinvar/336456 ^@ NM_000233.3(LHCGR):c.*131C>T http://identifiers.org/clinvar/336706 ^@ NM_002618.3(PEX13):c.*3012A>G http://identifiers.org/clinvar/336956 ^@ NM_003494.3(DYSF):c.1745G>T (p.Arg582Leu) http://identifiers.org/clinvar/342525 ^@ NM_198196.2(CD96):c.626A>C (p.Gln209Pro) http://identifiers.org/clinvar/334899 ^@ NM_004509.3(SP110):c.1706+4A>T http://identifiers.org/clinvar/334999 ^@ NM_005199.4(CHRNG):c.129C>T (p.Pro43=) http://identifiers.org/clinvar/342825 ^@ NM_053025.3(MYLK):c.*1653G>A http://identifiers.org/clinvar/334799 ^@ NM_000091.4(COL4A3):c.*893C>T http://identifiers.org/clinvar/335349 ^@ NM_152783.4(D2HGDH):c.*778C>T http://identifiers.org/clinvar/343225 ^@ NM_052985.3(IFT122):c.-210C>A http://identifiers.org/clinvar/343325 ^@ NM_014382.3(ATP2C1):c.996G>A (p.Val332=) http://identifiers.org/clinvar/342625 ^@ NM_020754.3(ARHGAP31):c.-38C>A http://identifiers.org/clinvar/335649 ^@ NM_001029883.2(C2orf71):c.2287A>G (p.Ile763Val) http://identifiers.org/clinvar/343475 ^@ NM_000532.4(PCCB):c.1372G>A (p.Ala458Thr) http://identifiers.org/clinvar/342675 ^@ NM_020754.3(ARHGAP31):c.4084C>G (p.Pro1362Ala) http://identifiers.org/clinvar/342775 ^@ NM_001023570.3(IQCB1):c.1135G>A (p.Val379Met) http://identifiers.org/clinvar/343675 ^@ NM_031850.3(AGTR1):c.1047C>T (p.Leu349=) http://identifiers.org/clinvar/335799 ^@ NM_000379.3(XDH):c.514G>A (p.Gly172Arg) http://identifiers.org/clinvar/342875 ^@ NM_053025.3(MYLK):c.4289-13delG http://identifiers.org/clinvar/335449 ^@ NM_194248.2(OTOF):c.1803+13G>A http://identifiers.org/clinvar/335499 ^@ NM_000221.2(KHK):c.820G>A (p.Val274Met) http://identifiers.org/clinvar/342975 ^@ NM_000373.3(UMPS):c.*2415_*2417delGAA http://identifiers.org/clinvar/335899 ^@ NM_001011.3(RPS7):c.-23G>A http://identifiers.org/clinvar/343925 ^@ NM_024996.5(GFM1):c.643G>A (p.Val215Ile) http://identifiers.org/clinvar/335949 ^@ NM_000104.3(CYP1B1):c.1474G>A (p.Asp492Asn) http://identifiers.org/clinvar/336049 ^@ NM_022436.2(ABCG5):c.775-10G>T http://identifiers.org/clinvar/343175 ^@ NM_004637.5(RAB7A):c.*863C>G http://identifiers.org/clinvar/354541 ^@ NM_002890.2(RASA1):c.*736_*738delATT http://identifiers.org/clinvar/355281 ^@ NM_000426.3(LAMA2):c.5560G>A (p.Asp1854Asn) http://identifiers.org/clinvar/355381 ^@ NM_006208.2(ENPP1):c.*1157C>T http://identifiers.org/clinvar/355431 ^@ NM_006208.2(ENPP1):c.*4571G>C http://identifiers.org/clinvar/351304 ^@ NM_005219.4(DIAPH1):c.301-5C>T http://identifiers.org/clinvar/355531 ^@ NM_000288.3(PEX7):c.418-4G>T http://identifiers.org/clinvar/351504 ^@ NM_054027.4(ANKH):c.1115G>A (p.Arg372Gln) http://identifiers.org/clinvar/355581 ^@ NM_003630.2(PEX3):c.*321_*322delAA http://identifiers.org/clinvar/351354 ^@ NM_001018077.1(NR3C1):c.*750delT http://identifiers.org/clinvar/358730 ^@ NM_001127500.2(MET):c.*2240G>A http://identifiers.org/clinvar/355681 ^@ NM_203395.2(IYD):c.*7C>T http://identifiers.org/clinvar/351404 ^@ NM_054027.4(ANKH):c.*5593G>C http://identifiers.org/clinvar/355781 ^@ NM_203395.2(IYD):c.*5770C>T http://identifiers.org/clinvar/351754 ^@ NM_024577.3(SH3TC2):c.*8364C>T http://identifiers.org/clinvar/351604 ^@ NM_024577.3(SH3TC2):c.*19182A>C http://identifiers.org/clinvar/351854 ^@ NM_024577.3(SH3TC2):c.*2397G>A http://identifiers.org/clinvar/359430 ^@ NM_022458.3(LMBR1):c.474G>A (p.Ala158=) http://identifiers.org/clinvar/351954 ^@ NM_000440.2(PDE6A):c.*2009T>C http://identifiers.org/clinvar/352004 ^@ NM_000440.2(PDE6A):c.300G>A (p.Arg100=) http://identifiers.org/clinvar/359680 ^@ NM_001277115.1(DNAH11):c.11725G>A (p.Val3909Met) http://identifiers.org/clinvar/359830 ^@ NM_004403.2(DFNA5):c.*326C>A http://identifiers.org/clinvar/360130 ^@ NM_133468.4(BMPER):c.*677C>T http://identifiers.org/clinvar/360230 ^@ NM_000168.5(GLI3):c.3208A>T (p.Thr1070Ser) http://identifiers.org/clinvar/360280 ^@ NM_000290.3(PGAM2):c.-32dupG http://identifiers.org/clinvar/361219 ^@ NM_178857.5(RP1L1):c.6596C>T (p.Pro2199Leu) http://identifiers.org/clinvar/361319 ^@ NM_178857.5(RP1L1):c.3201C>T (p.Gly1067=) http://identifiers.org/clinvar/361629 ^@ NM_014112.4(TRPS1):c.542A>G (p.Gln181Arg) http://identifiers.org/clinvar/353741 ^@ NM_002203.3(ITGA2):c.759C>T (p.Phe253=) http://identifiers.org/clinvar/353491 ^@ NM_000514.3(GDNF):c.*1651A>G http://identifiers.org/clinvar/306264 ^@ NM_024698.5(SLC25A22):c.651G>A (p.Pro217=) http://identifiers.org/clinvar/306314 ^@ NM_020376.3(PNPLA2):c.*479C>T http://identifiers.org/clinvar/306365 ^@ NM_012193.3(FZD4):c.*2971T>C http://identifiers.org/clinvar/306415 ^@ NM_001814.5(CTSC):c.*279A>G http://identifiers.org/clinvar/299971 ^@ NM_002900.2(RBP3):c.2095T>C (p.Leu699=) http://identifiers.org/clinvar/364218 ^@ NM_014425.4(INVS):c.-155C>T http://identifiers.org/clinvar/364268 ^@ NM_001701.3(BAAT):c.*895C>T http://identifiers.org/clinvar/300321 ^@ NM_001083116.1(PRF1):c.*209delT http://identifiers.org/clinvar/307015 ^@ NM_052845.3(MMAB):c.*2503G>A http://identifiers.org/clinvar/307065 ^@ NM_052845.3(MMAB):c.*376_*379delTGTG http://identifiers.org/clinvar/300421 ^@ NM_022124.5(CDH23):c.3109G>A (p.Gly1037Ser) http://identifiers.org/clinvar/364718 ^@ NM_012210.3(TRIM32):c.1386G>A (p.Val462=) http://identifiers.org/clinvar/364768 ^@ NM_018249.5(CDK5RAP2):c.2087C>T (p.Ala696Val) http://identifiers.org/clinvar/300721 ^@ NM_016065.3(MRPS16):c.63T>C (p.Leu21=) http://identifiers.org/clinvar/300821 ^@ NM_014000.2(VCL):c.*1823G>A http://identifiers.org/clinvar/364668 ^@ NM_000031.5(ALAD):c.-177C>T http://identifiers.org/clinvar/364868 ^@ NM_000550.2(TYRP1):c.*509C>A http://identifiers.org/clinvar/365018 ^@ NM_138361.5(LRSAM1):c.751-8C>G http://identifiers.org/clinvar/364968 ^@ NM_002316.3(LMX1B):c.*3346G>A http://identifiers.org/clinvar/365218 ^@ NM_000113.2(TOR1A):c.*785G>A http://identifiers.org/clinvar/366158 ^@ NM_144966.5(FREM1):c.1512C>T (p.His504=) http://identifiers.org/clinvar/365908 ^@ NM_006412.3(AGPAT2):c.*230C>T http://identifiers.org/clinvar/366408 ^@ NM_133497.3(KCNV2):c.97C>T (p.Leu33=) http://identifiers.org/clinvar/310164 ^@ NM_002076.3(GNS):c.*2843C>T http://identifiers.org/clinvar/310264 ^@ NM_014319.4(LEMD3):c.*1951C>T http://identifiers.org/clinvar/366208 ^@ NM_003070.4(SMARCA2):c.1806C>T (p.Thr602=) http://identifiers.org/clinvar/310414 ^@ NM_001131025.1(PEX5):c.-210G>T http://identifiers.org/clinvar/302660 ^@ NM_000733.3(CD3E):c.73A>G (p.Asn25Asp) http://identifiers.org/clinvar/306615 ^@ NM_018979.3(WNK1):c.5991G>A (p.Glu1997=) http://identifiers.org/clinvar/366858 ^@ NM_012203.1(GRHPR):c.682A>G (p.Lys228Glu) http://identifiers.org/clinvar/302960 ^@ NM_015645.4(C1QTNF5):c.-1696C>A http://identifiers.org/clinvar/367008 ^@ NM_001042413.1(GLIS3):c.-154C>T http://identifiers.org/clinvar/314397 ^@ NM_001040108.1(MLH3):c.-120G>A http://identifiers.org/clinvar/312808 ^@ NM_001126106.2(SLC7A7):c.*16C>T http://identifiers.org/clinvar/314547 ^@ NM_013382.5(POMT2):c.*349G>A http://identifiers.org/clinvar/314597 ^@ NM_004863.3(SPTLC2):c.*4037G>A http://identifiers.org/clinvar/312958 ^@ NM_001099274.1(TINF2):c.-50A>G http://identifiers.org/clinvar/340886 ^@ NM_004782.3(SNAP29):c.*2692C>T http://identifiers.org/clinvar/322382 ^@ NM_080669.5(SLC46A1):c.*1648G>A http://identifiers.org/clinvar/340936 ^@ NM_016327.2(UPB1):c.899C>T (p.Ser300Leu) http://identifiers.org/clinvar/341086 ^@ NM_000268.3(NF2):c.*359G>A http://identifiers.org/clinvar/341186 ^@ NM_000355.3(TCN2):c.-34A>G http://identifiers.org/clinvar/322932 ^@ NM_000458.3(HNF1B):c.*691A>G http://identifiers.org/clinvar/322982 ^@ NM_001004334.3(GPR179):c.4888G>C (p.Glu1630Gln) http://identifiers.org/clinvar/341836 ^@ NM_001429.3(EP300):c.*138G>A http://identifiers.org/clinvar/323132 ^@ NM_000226.3(KRT9):c.948C>T (p.Gly316=) http://identifiers.org/clinvar/323332 ^@ NM_032387.4(WNK4):c.1885C>T (p.Arg629Cys) http://identifiers.org/clinvar/323382 ^@ NM_000151.3(G6PC):c.*1227dupT http://identifiers.org/clinvar/313897 ^@ NM_015346.3(ZFYVE26):c.4293G>C (p.Gln1431His) http://identifiers.org/clinvar/323532 ^@ NM_002087.3(GRN):c.393C>T (p.Phe131=) http://identifiers.org/clinvar/313997 ^@ NM_000021.3(PSEN1):c.*3619A>G http://identifiers.org/clinvar/316036 ^@ NM_201631.3(TGM5):c.*56T>C http://identifiers.org/clinvar/314197 ^@ NM_182894.2(VSX2):c.777G>A (p.Ser259=) http://identifiers.org/clinvar/314247 ^@ NM_000428.2(LTBP2):c.*1743C>T http://identifiers.org/clinvar/316336 ^@ NM_000138.4(FBN1):c.*1368A>G http://identifiers.org/clinvar/324121 ^@ NM_000088.3(COL1A1):c.229G>A (p.Glu77Lys) http://identifiers.org/clinvar/316486 ^@ NM_182758.3(WDR72):c.*3742G>C http://identifiers.org/clinvar/324278 ^@ NM_018488.3(TBX4):c.*252G>C http://identifiers.org/clinvar/316586 ^@ NM_182758.3(WDR72):c.2694A>G (p.Ser898=) http://identifiers.org/clinvar/324430 ^@ NM_000789.3(ACE):c.*586C>A http://identifiers.org/clinvar/316786 ^@ NM_004727.2(SLC24A1):c.70C>T (p.Arg24Cys) http://identifiers.org/clinvar/314797 ^@ NM_198309.3(TTC8):c.5G>A (p.Ser2Asn) http://identifiers.org/clinvar/316936 ^@ NM_005902.3(SMAD3):c.*2291C>A http://identifiers.org/clinvar/314897 ^@ NM_004239.4(TRIP11):c.*1339dupA http://identifiers.org/clinvar/317136 ^@ NM_000781.2(CYP11A1):c.-59A>G http://identifiers.org/clinvar/314997 ^@ NM_000295.4(SERPINA1):c.*1494A>T http://identifiers.org/clinvar/324980 ^@ NM_000018.3(ACADVL):c.-64T>C http://identifiers.org/clinvar/325180 ^@ NM_001005731.2(ITGB4):c.3598G>A (p.Gly1200Arg) http://identifiers.org/clinvar/317587 ^@ NM_000875.4(IGF1R):c.*4641C>T http://identifiers.org/clinvar/317637 ^@ NM_000875.4(IGF1R):c.*6271C>T http://identifiers.org/clinvar/325380 ^@ NM_004035.6(ACOX1):c.1068C>T (p.Asn356=) http://identifiers.org/clinvar/317687 ^@ NM_000246.3(CIITA):c.1006+12G>A http://identifiers.org/clinvar/317737 ^@ NM_000246.3(CIITA):c.*414T>C http://identifiers.org/clinvar/325580 ^@ NM_006640.4(SEPT9):c.*55dupC http://identifiers.org/clinvar/317837 ^@ NM_005236.2(ERCC4):c.*810G>A http://identifiers.org/clinvar/325881 ^@ NM_001139.2(ALOX12B):c.1276-13G>C http://identifiers.org/clinvar/373597 ^@ NM_001854.3(COL11A1):c.1039G>A (p.Asp347Asn) http://identifiers.org/clinvar/373097 ^@ NM_002016.1(FLG):c.11528C>G (p.Ser3843Ter) http://identifiers.org/clinvar/373797 ^@ NM_000388.3(CASR):c.707G>A (p.Cys236Tyr) http://identifiers.org/clinvar/373247 ^@ NM_001999.3(FBN2):c.5678G>A (p.Arg1893His) http://identifiers.org/clinvar/373347 ^@ NM_003060.3(SLC22A5):c.1234A>C (p.Ser412Arg) http://identifiers.org/clinvar/372638 ^@ NM_153717.2(EVC):c.172C>T (p.Gln58Ter) http://identifiers.org/clinvar/373197 ^@ NM_001369.2(DNAH5):c.2052+6_2052+7delTCinsAG http://identifiers.org/clinvar/373547 ^@ NM_001018077.1(NR3C1):c.673C>G (p.Leu225Val) http://identifiers.org/clinvar/373047 ^@ NM_000238.3(KCNH2):c.3152+2T>C http://identifiers.org/clinvar/373647 ^@ NM_000089.3(COL1A2):c.1690G>A (p.Ala564Thr) http://identifiers.org/clinvar/373297 ^@ NM_016203.3(PRKAG2):c.1693G>C (p.Glu565Gln) http://identifiers.org/clinvar/372947 ^@ NM_170606.2(KMT2C):c.14344-1G>A http://identifiers.org/clinvar/373147 ^@ NM_006757.3(TNNT3):c.695G>A (p.Arg232Lys) http://identifiers.org/clinvar/372484 ^@ NM_000317.2(PTS):c.238A>G (p.Met80Val) http://identifiers.org/clinvar/373697 ^@ NM_000138.4(FBN1):c.2254delT (p.Ser752Glnfs) http://identifiers.org/clinvar/373497 ^@ NM_004863.3(SPTLC2):c.1226C>T (p.Thr409Met) http://identifiers.org/clinvar/372997 ^@ NM_001271.3(CHD2):c.340C>T (p.Arg114Ter) http://identifiers.org/clinvar/372587 ^@ NM_000257.3(MYH7):c.5537G>A (p.Arg1846His) http://identifiers.org/clinvar/373397 ^@ NM_153700.2(STRC):c.3307G>A (p.Val1103Ile) http://identifiers.org/clinvar/372690 ^@ NM_001128849.1(SMARCA4):c.4681G>A (p.Val1561Ile) http://identifiers.org/clinvar/373747 ^@ NM_001958.3(EEF1A2):c.374C>A (p.Ala125Glu) http://identifiers.org/clinvar/373447 ^@ NM_001363.4(DKC1):c.1174A>G (p.Met392Val) http://identifiers.org/clinvar/373847 ^@ NG_005905.2:g.142345_165745del23401 http://identifiers.org/clinvar/374050 ^@ NM_001271208.1(NEB):c.7362C>G (p.Asn2454Lys) http://identifiers.org/clinvar/374150 ^@ NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) http://identifiers.org/clinvar/373900 ^@ NM_183357.2(ADCY5):c.649delC (p.Arg217Alafs) http://identifiers.org/clinvar/374000 ^@ NM_001282717.1(STAG3):c.2776C>T (p.Arg926Ter) http://identifiers.org/clinvar/374100 ^@ NM_001080463.1(DYNC2H1):c.10482+1G>A http://identifiers.org/clinvar/373950 ^@ NM_016373.3(WWOX):c.918delG (p.Glu306Aspfs) http://identifiers.org/clinvar/374200 ^@ NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) http://identifiers.org/clinvar/374254 ^@ NM_020320.4(RARS2):c.407T>C (p.Val136Ala) http://identifiers.org/clinvar/374389 ^@ NM_000016.5(ACADM):c.287-2A>G http://identifiers.org/clinvar/374324 ^@ NM_004187.3(KDM5C):c.1439C>T (p.Pro480Leu) http://identifiers.org/clinvar/374442 ^@ NM_000435.2(NOTCH3):c.1808A>G (p.Lys603Arg) http://identifiers.org/clinvar/375343 ^@ NM_182476.2(COQ6):c.1235A>G (p.Tyr412Cys) http://identifiers.org/clinvar/375395 ^@ NM_004796.5(NRXN3):c.196A>G (p.Lys66Glu) http://identifiers.org/clinvar/375450 ^@ NM_000059.3(BRCA2):c.6957A>G (p.Arg2319=) http://identifiers.org/clinvar/375518 ^@ NM_172107.3(KCNQ2):c.798T>A (p.Asp266Glu) http://identifiers.org/clinvar/375577 ^@ NM_001733.4(C1R):c.905A>G (p.Tyr302Cys) http://identifiers.org/clinvar/375635 ^@ NG_009873.1:g.(?_5000)_(160068_?)del http://identifiers.org/clinvar/375698 ^@ NM_032387.4(WNK4):c.1690G>C (p.Asp564His) http://identifiers.org/clinvar/375780 ^@ NM_000527.4(LDLR):c.314-2A>T http://identifiers.org/clinvar/375830 ^@ NM_000527.4(LDLR):c.2068dupC (p.His690Profs) http://identifiers.org/clinvar/375883 ^@ NM_022552.4(DNMT3A):c.2644C>G (p.Arg882Gly) http://identifiers.org/clinvar/375933 ^@ NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) http://identifiers.org/clinvar/384187 ^@ NM_000251.2(MSH2):c.543T>C (p.Asn181=) http://identifiers.org/clinvar/381343 ^@ NM_000179.2(MSH6):c.628-17C>A http://identifiers.org/clinvar/379200 ^@ NM_000179.2(MSH6):c.1209C>T (p.Leu403=) http://identifiers.org/clinvar/380140 ^@ NM_000179.2(MSH6):c.4002-16T>G http://identifiers.org/clinvar/378292 ^@ NM_001135659.2(NRXN1):c.2330C>T (p.Thr777Met) http://identifiers.org/clinvar/390726 ^@ NM_015120.4(ALMS1):c.6444A>G (p.Lys2148=) http://identifiers.org/clinvar/381393 ^@ NM_024996.5(GFM1):c.597G>A (p.Ala199=) http://identifiers.org/clinvar/391376 ^@ NM_000158.3(GBE1):c.143+6G>A http://identifiers.org/clinvar/378548 ^@ NM_198056.2(SCN5A):c.4221C>T (p.Ala1407=) http://identifiers.org/clinvar/379500 ^@ NM_000179.2(MSH6):c.457+7G>C http://identifiers.org/clinvar/387637 ^@ NM_015340.3(LARS2):c.1622+8G>A http://identifiers.org/clinvar/390576 ^@ NM_018699.3(PRDM5):c.963T>C (p.Asp321=) http://identifiers.org/clinvar/392165 ^@ NM_018699.3(PRDM5):c.300+17C>T http://identifiers.org/clinvar/380792 ^@ NM_001034850.2(RETREG1):c.459-25093T>C http://identifiers.org/clinvar/381493 ^@ NM_000038.5(APC):c.-30C>G http://identifiers.org/clinvar/392415 ^@ NM_133625.4(SYN2):c.1369+21G>C http://identifiers.org/clinvar/380240 ^@ NM_000038.5(APC):c.5481C>A (p.Leu1827=) http://identifiers.org/clinvar/392315 ^@ NM_002880.3(RAF1):c.1678A>C (p.Met560Leu) http://identifiers.org/clinvar/388737 ^@ NM_032861.3(SERAC1):c.1308+7G>A http://identifiers.org/clinvar/388537 ^@ NM_001453.2(FOXC1):c.1443C>T (p.Asp481=) http://identifiers.org/clinvar/384838 ^@ NM_018341.2(ERMARD):c.1234-16G>C http://identifiers.org/clinvar/384888 ^@ NM_020745.3(AARS2):c.2730G>A (p.Thr910=) http://identifiers.org/clinvar/388637 ^@ NM_006348.3(COG5):c.2526A>T (p.Ala842=) http://identifiers.org/clinvar/381043 ^@ NM_001148.4(ANK2):c.3054T>C (p.Pro1018=) http://identifiers.org/clinvar/388587 ^@ NM_033071.3(SYNE1):c.11154C>G (p.Thr3718=) http://identifiers.org/clinvar/391176 ^@ NM_014476.5(PDLIM3):c.94-13T>C http://identifiers.org/clinvar/380842 ^@ NM_002291.2(LAMB1):c.5225-10C>A http://identifiers.org/clinvar/384938 ^@ NM_000083.2(CLCN1):c.720C>T (p.Ser240=) http://identifiers.org/clinvar/391326 ^@ NM_004519.3(KCNQ3):c.1026C>T (p.Ser342=) http://identifiers.org/clinvar/378950 ^@ NM_000038.5(APC):c.6813T>C (p.Pro2271=) http://identifiers.org/clinvar/390026 ^@ NM_000501.3(ELN):c.1414+19C>T http://identifiers.org/clinvar/381293 ^@ NM_005431.1(XRCC2):c.-36A>C http://identifiers.org/clinvar/384337 ^@ NM_000550.2(TYRP1):c.1263T>C (p.Asp421=) http://identifiers.org/clinvar/387587 ^@ NM_001101426.3(ISPD):c.933+3A>G http://identifiers.org/clinvar/378648 ^@ NM_001130438.2(SPTAN1):c.1011G>A (p.Glu337=) http://identifiers.org/clinvar/390626 ^@ NM_004168.3(SDHA):c.895+13G>A http://identifiers.org/clinvar/384387 ^@ NM_001098511.2(KIF2A):c.1263-7A>T http://identifiers.org/clinvar/392465 ^@ NM_017780.3(CHD7):c.4609A>T (p.Lys1537Ter) http://identifiers.org/clinvar/387537 ^@ NM_007327.3(GRIN1):c.394-4G>A http://identifiers.org/clinvar/380993 ^@ NM_003640.4(IKBKAP):c.286A>G (p.Ser96Gly) http://identifiers.org/clinvar/384287 ^@ NM_000136.2(FANCC):c.1095C>T (p.Leu365=) http://identifiers.org/clinvar/378598 ^@ NM_000111.2(SLC26A3):c.357C>A (p.Phe119Leu) http://identifiers.org/clinvar/133040 ^@ NM_000540.2(RYR1):c.12700G>C (p.Val4234Leu) http://identifiers.org/clinvar/133090 ^@ NM_000540.2(RYR1):c.14695G>A (p.Gly4899Arg) http://identifiers.org/clinvar/133140 ^@ NM_000540.2(RYR1):c.496G>A (p.Asp166Asn) http://identifiers.org/clinvar/133190 ^@ NM_000540.2(RYR1):c.7209C>T (p.Arg2403=) http://identifiers.org/clinvar/133240 ^@ NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) http://identifiers.org/clinvar/133319 ^@ NM_001199917.1(PGM3):c.1104_1106delAGT (p.Glu368_Val369delinsAsp) http://identifiers.org/clinvar/133382 ^@ NM_001128849.1(SMARCA4):c.2617-224T>C http://identifiers.org/clinvar/133683 ^@ NM_001123383.1(BCOR):c.1465C>T (p.Pro489Ser) http://identifiers.org/clinvar/133734 ^@ NM_000059.3(BRCA2):c.2471T>C (p.Leu824Ser) http://identifiers.org/clinvar/133837 ^@ NM_001783.3(CD79A):c.593T>C (p.Met198Thr) http://identifiers.org/clinvar/134733 ^@ NM_003482.3(KMT2D):c.1057C>A (p.Gln353Lys) http://identifiers.org/clinvar/134783 ^@ NM_170606.2(KMT2C):c.10163A>G (p.Asn3388Ser) http://identifiers.org/clinvar/134834 ^@ NM_005373.2(MPL):c.754T>C (p.Tyr252His) http://identifiers.org/clinvar/134887 ^@ NM_001042492.2(NF1):c.6172A>G (p.Ile2058Val) http://identifiers.org/clinvar/134937 ^@ NM_017617.4(NOTCH1):c.4049G>T (p.Arg1350Leu) http://identifiers.org/clinvar/134987 ^@ NM_024408.3(NOTCH2):c.7223T>A (p.Leu2408His) http://identifiers.org/clinvar/135037 ^@ NM_006218.3(PIK3CA):c.1876G>A (p.Asp626Asn) http://identifiers.org/clinvar/135088 ^@ NM_001198.3(PRDM1):c.1141T>C (p.Tyr381His) http://identifiers.org/clinvar/135139 ^@ NM_004260.3(RECQL4):c.2420G>A (p.Arg807His) http://identifiers.org/clinvar/135220 ^@ NM_014159.6(SETD2):c.2251C>A (p.Pro751Thr) http://identifiers.org/clinvar/135271 ^@ NM_003745.1(SOCS1):c.139_140insTCCCGG (p.Pro46_Ala47insValPro) http://identifiers.org/clinvar/135371 ^@ NM_000548.4(TSC2):c.1600G>T (p.Val534Leu) http://identifiers.org/clinvar/135422 ^@ NM_000553.4(WRN):c.2165A>G (p.Asn722Ser) http://identifiers.org/clinvar/135472 ^@ NM_004628.4(XPC):c.2782A>C (p.Lys928Gln) http://identifiers.org/clinvar/135522 ^@ NM_001005862.2(ERBB2):c.931+48C>T http://identifiers.org/clinvar/135573 ^@ NM_006164.4(NFE2L2):c.312+11C>T http://identifiers.org/clinvar/135648 ^@ NC_000006.10:g.(168690655_168741459)_(170663087_170899992)del http://identifiers.org/clinvar/135707 ^@ NM_000038.5(APC):c.5177A>G (p.Glu1726Gly) http://identifiers.org/clinvar/135759 ^@ NM_000051.3(ATM):c.5005+7_5005+8delTA http://identifiers.org/clinvar/135817 ^@ NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) http://identifiers.org/clinvar/135867 ^@ NM_000264.3(PTCH1):c.1186C>G (p.Leu396Val) http://identifiers.org/clinvar/135917 ^@ NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) http://identifiers.org/clinvar/135968 ^@ NM_001127500.2(MET):c.4061G>A (p.Arg1354Gln) http://identifiers.org/clinvar/136019 ^@ NM_002354.2(EPCAM):c.269A>G (p.Asn90Ser) http://identifiers.org/clinvar/136069 ^@ NM_004360.4(CDH1):c.719A>G (p.Asn240Ser) http://identifiers.org/clinvar/136120 ^@ NM_020975.4(RET):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/136170 ^@ NM_130799.2(MEN1):c.566A>G (p.Asn189Ser) http://identifiers.org/clinvar/136231 ^@ NM_020745.3(AARS2):c.1752G>A (p.Glu584=) http://identifiers.org/clinvar/136282 ^@ NM_001103.3(ACTN2):c.351C>T (p.Ile117=) http://identifiers.org/clinvar/136332 ^@ NM_005751.4(AKAP9):c.5246T>C (p.Ile1749Thr) http://identifiers.org/clinvar/136384 ^@ NM_001148.4(ANK2):c.1899A>G (p.Leu633=) http://identifiers.org/clinvar/186222 ^@ NM_002878.3(RAD51D):c.82+1G>A http://identifiers.org/clinvar/186022 ^@ NM_007294.3(BRCA1):c.4554G>A (p.Gln1518=) http://identifiers.org/clinvar/184433 ^@ NM_007294.3(BRCA1):c.1863T>C (p.His621=) http://identifiers.org/clinvar/184083 ^@ NM_058216.2(RAD51C):c.967T>C (p.Leu323=) http://identifiers.org/clinvar/185722 ^@ NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) http://identifiers.org/clinvar/185822 ^@ NM_000546.5(TP53):c.578A>T (p.His193Leu) http://identifiers.org/clinvar/184183 ^@ NM_000546.5(TP53):c.66A>G (p.Leu22=) http://identifiers.org/clinvar/183782 ^@ NM_005359.5(SMAD4):c.276T>C (p.His92=) http://identifiers.org/clinvar/184033 ^@ NM_000455.4(STK11):c.45C>T (p.Gly15=) http://identifiers.org/clinvar/185022 ^@ NM_000455.4(STK11):c.842C>G (p.Pro281Arg) http://identifiers.org/clinvar/185972 ^@ NM_007194.3(CHEK2):c.1434delA (p.Glu479Lysfs) http://identifiers.org/clinvar/187896 ^@ NM_005957.4(MTHFR):c.1606G>T (p.Val536Phe) http://identifiers.org/clinvar/187946 ^@ NM_004409.4(DMPK):c.*224_*226[255] http://identifiers.org/clinvar/187996 ^@ NM_004409.4(DMPK):c.*224_*226[513] http://identifiers.org/clinvar/188046 ^@ NM_052867.2(NALCN):c.3542G>A (p.Arg1181Gln) http://identifiers.org/clinvar/188357 ^@ NM_000179.2(MSH6):c.956C>T (p.Thr319Met) http://identifiers.org/clinvar/188304 ^@ NM_000535.6(PMS2):c.466A>G (p.Thr156Ala) http://identifiers.org/clinvar/188148 ^@ NM_000264.3(PTCH1):c.4051A>G (p.Asn1351Asp) http://identifiers.org/clinvar/188097 ^@ NM_000051.3(ATM):c.2921+1G>C http://identifiers.org/clinvar/188198 ^@ NM_030962.3(SBF2):c.3110G>C (p.Arg1037Pro) http://identifiers.org/clinvar/188251 ^@ NM_032043.2(BRIP1):c.919-?_1140+?del http://identifiers.org/clinvar/188516 ^@ NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter) http://identifiers.org/clinvar/188466 ^@ NM_004415.3(DSP):c.4775A>G (p.Lys1592Arg) http://identifiers.org/clinvar/188566 ^@ NM_000256.3(MYBPC3):c.2308+18C>G http://identifiers.org/clinvar/188616 ^@ NM_000257.3(MYH7):c.2605C>A (p.Arg869Ser) http://identifiers.org/clinvar/188415 ^@ NM_007294.3(BRCA1):c.4955T>A (p.Met1652Lys) http://identifiers.org/clinvar/188666 ^@ NM_000363.4(TNNI3):c.-98C>A http://identifiers.org/clinvar/188866 ^@ NM_000030.2(AGXT):c.302T>C (p.Leu101Pro) http://identifiers.org/clinvar/188917 ^@ NM_018941.3(CLN8):c.709G>A (p.Gly237Arg) http://identifiers.org/clinvar/189168 ^@ NM_001360.2(DHCR7):c.111G>A (p.Trp37Ter) http://identifiers.org/clinvar/188766 ^@ NM_000277.1(PAH):c.664_665delGA (p.Asp222Terfs) http://identifiers.org/clinvar/189018 ^@ NM_000295.4(SERPINA1):c.745G>C (p.Gly249Arg) http://identifiers.org/clinvar/188967 ^@ NM_002435.2(MPI):c.166dupC (p.Arg56Profs) http://identifiers.org/clinvar/188716 ^@ NM_000271.4(NPC1):c.2819C>T (p.Ser940Leu) http://identifiers.org/clinvar/189068 ^@ NM_000528.3(MAN2B1):c.1383C>G (p.Tyr461Ter) http://identifiers.org/clinvar/189118 ^@ NM_000528.3(MAN2B1):c.1109G>A (p.Trp370Ter) http://identifiers.org/clinvar/188816 ^@ NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) http://identifiers.org/clinvar/190031 ^@ NM_001165963.1(SCN1A):c.3661G>C (p.Glu1221Gln) http://identifiers.org/clinvar/189981 ^@ NM_001165963.1(SCN1A):c.384_964del http://identifiers.org/clinvar/190166 ^@ NM_000124.3(ERCC6):c.3412dupA (p.Thr1138Asnfs) http://identifiers.org/clinvar/190217 ^@ NM_000372.4(TYR):c.902C>T (p.Pro301Leu) http://identifiers.org/clinvar/190279 ^@ ADNP, 2-BP DEL, TT http://identifiers.org/clinvar/190350 ^@ NM_002055.4(GFAP):c.868C>G (p.Gln290Glu) http://identifiers.org/clinvar/228023 ^@ NM_001128228.2(TPRN):c.1944T>G (p.Ser648=) http://identifiers.org/clinvar/227722 ^@ NM_032578.3(MYPN):c.734C>G (p.Ala245Gly) http://identifiers.org/clinvar/227772 ^@ NM_001277269.1(OTOG):c.2661C>G (p.Gly887=) http://identifiers.org/clinvar/226890 ^@ NM_001277269.1(OTOG):c.3710G>A (p.Arg1237His) http://identifiers.org/clinvar/227442 ^@ NM_004517.3(ILK):c.252G>A (p.Gln84=) http://identifiers.org/clinvar/226990 ^@ NM_012226.4(P2RX2):c.615G>A (p.Ser205=) http://identifiers.org/clinvar/226940 ^@ NM_173591.3(OTOGL):c.3306G>T (p.Gln1102His) http://identifiers.org/clinvar/227822 ^@ NM_173591.3(OTOGL):c.3648G>C (p.Gln1216His) http://identifiers.org/clinvar/227973 ^@ NM_153700.2(STRC):c.694A>G (p.Lys232Glu) http://identifiers.org/clinvar/227091 ^@ NM_001039876.2(SYNE4):c.834G>C (p.Gln278His) http://identifiers.org/clinvar/227241 ^@ NM_001039213.3(CEACAM16):c.519C>T (p.Val173=) http://identifiers.org/clinvar/227572 ^@ NM_024729.3(MYH14):c.1002G>A (p.Pro334=) http://identifiers.org/clinvar/233867 ^@ NM_000179.2(MSH6):c.685G>A (p.Glu229Lys) http://identifiers.org/clinvar/234701 ^@ NM_000179.2(MSH6):c.2943T>G (p.Ile981Met) http://identifiers.org/clinvar/230924 ^@ NM_002485.4(NBN):c.2071-1G>A http://identifiers.org/clinvar/234500 ^@ NM_000834.3(GRIN2B):c.2252T>C (p.Ile751Thr) http://identifiers.org/clinvar/234751 ^@ NM_000059.3(BRCA2):c.4237A>G (p.Lys1413Glu) http://identifiers.org/clinvar/234801 ^@ NM_000059.3(BRCA2):c.4661G>C (p.Ser1554Thr) http://identifiers.org/clinvar/234383 ^@ NM_000257.3(MYH7):c.5519T>C (p.Met1840Thr) http://identifiers.org/clinvar/234449 ^@ NM_000243.2(MEFV):c.2227T>C (p.Phe743Leu) http://identifiers.org/clinvar/234551 ^@ NM_000243.2(MEFV):c.2141C>T (p.Pro714Leu) http://identifiers.org/clinvar/234601 ^@ NM_002230.2(JUP):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/234274 ^@ NM_004655.3(AXIN2):c.2195C>T (p.Thr732Met) http://identifiers.org/clinvar/234329 ^@ NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) http://identifiers.org/clinvar/234651 ^@ NM_000214.2(JAG1):c.2080A>T (p.Lys694Ter) http://identifiers.org/clinvar/233714 ^@ NM_000143.3(FH):c.357A>C (p.Ala119=) http://identifiers.org/clinvar/231424 ^@ NM_000465.3(BARD1):c.2172G>A (p.Ala724=) http://identifiers.org/clinvar/234117 ^@ NM_000465.3(BARD1):c.1689G>A (p.Gly563=) http://identifiers.org/clinvar/233414 ^@ NM_000465.3(BARD1):c.1349dupA (p.Asn450Lysfs) http://identifiers.org/clinvar/231174 ^@ NM_000465.3(BARD1):c.1318G>T (p.Asp440Tyr) http://identifiers.org/clinvar/231824 ^@ NM_000465.3(BARD1):c.748T>G (p.Ser250Ala) http://identifiers.org/clinvar/231224 ^@ NM_000251.2(MSH2):c.108T>G (p.Leu36=) http://identifiers.org/clinvar/233917 ^@ NM_000179.2(MSH6):c.1871G>T (p.Gly624Val) http://identifiers.org/clinvar/232024 ^@ NM_000179.2(MSH6):c.3429T>C (p.Leu1143=) http://identifiers.org/clinvar/231074 ^@ NM_000038.5(APC):c.220G>T (p.Glu74Ter) http://identifiers.org/clinvar/231924 ^@ NM_000038.5(APC):c.1240C>A (p.Arg414Ser) http://identifiers.org/clinvar/233564 ^@ NM_000038.5(APC):c.2993G>T (p.Gly998Val) http://identifiers.org/clinvar/264366 ^@ NM_001943.4(DSG2):c.1355T>G (p.Leu452Arg) http://identifiers.org/clinvar/264416 ^@ NM_001456.3(FLNA):c.1042C>G (p.Pro348Ala) http://identifiers.org/clinvar/264566 ^@ NM_005120.2(MED12):c.4253+4G>A http://identifiers.org/clinvar/264936 ^@ NM_000059.3(BRCA2):c.9256+6423_9256+6453del http://identifiers.org/clinvar/264988 ^@ NM_015665.5(AAAS):c.57_58delTG (p.Tyr19Terfs) http://identifiers.org/clinvar/265038 ^@ NM_001139.2(ALOX12B):c.1156C>T (p.Arg386Cys) http://identifiers.org/clinvar/265091 ^@ NM_000397.3(CYBB):c.868C>T (p.Arg290Ter) http://identifiers.org/clinvar/267288 ^@ NM_001458.4(FLNC):c.2971C>T (p.Arg991Ter) http://identifiers.org/clinvar/266031 ^@ NM_201380.3(PLEC):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/266107 ^@ NM_152773.4(TCTEX1D2):c.317+4A>T http://identifiers.org/clinvar/266857 ^@ NM_000059.3(BRCA2):c.52_61delCGCTGCAACA (p.Arg18Lysfs) http://identifiers.org/clinvar/266907 ^@ NM_000059.3(BRCA2):c.595_598delGCTA (p.Ala199Hisfs) http://identifiers.org/clinvar/267007 ^@ NM_000059.3(BRCA2):c.739_740delAT (p.Ile247Argfs) http://identifiers.org/clinvar/266607 ^@ NM_000059.3(BRCA2):c.1069delG (p.Glu357Lysfs) http://identifiers.org/clinvar/266657 ^@ NM_000059.3(BRCA2):c.1762_1766delAATAA (p.Asn588Valfs) http://identifiers.org/clinvar/266707 ^@ NM_000059.3(BRCA2):c.2514dupA (p.Tyr839Ilefs) http://identifiers.org/clinvar/266757 ^@ NM_000059.3(BRCA2):c.3530_3533delACAG (p.Asp1177Alafs) http://identifiers.org/clinvar/266807 ^@ NM_000059.3(BRCA2):c.4385dupT (p.Leu1462Phefs) http://identifiers.org/clinvar/266957 ^@ NM_000059.3(BRCA2):c.6528_6535dupCATTCATG (p.Val2179Alafs) http://identifiers.org/clinvar/267057 ^@ NM_000059.3(BRCA2):c.8164delA (p.Thr2722Glnfs) http://identifiers.org/clinvar/267107 ^@ NM_000059.3(BRCA2):c.8798_8802delGGCAA (p.Arg2933Asnfs) http://identifiers.org/clinvar/267157 ^@ NM_000059.3(BRCA2):c.9357_9360delAATT (p.Ile3120Leufs) http://identifiers.org/clinvar/266557 ^@ NM_007294.3(BRCA1):c.5503_5506delCGAG (p.Arg1835Serfs) http://identifiers.org/clinvar/266507 ^@ NM_007294.3(BRCA1):c.4995_5007dupGTACAAGTTTGCC (p.Arg1670Valfs) http://identifiers.org/clinvar/266457 ^@ NM_007294.3(BRCA1):c.4205delA (p.His1402Leufs) http://identifiers.org/clinvar/266407 ^@ NM_007294.3(BRCA1):c.3821dupT (p.Ile1275Asnfs) http://identifiers.org/clinvar/266357 ^@ NM_007294.3(BRCA1):c.3339_3341delTGA (p.Tyr1113_Ser1448delinsTer) http://identifiers.org/clinvar/266307 ^@ NM_007294.3(BRCA1):c.2843delG (p.Gly948Glufs) http://identifiers.org/clinvar/266207 ^@ NM_007294.3(BRCA1):c.1965C>A (p.Tyr655Ter) http://identifiers.org/clinvar/266157 ^@ NM_007294.3(BRCA1):c.1333delG (p.Glu445Lysfs) http://identifiers.org/clinvar/266257 ^@ NM_007294.3(BRCA1):c.239_241delGTCinsTT (p.Ser80Ilefs) http://identifiers.org/clinvar/267226 ^@ NM_000059.3(BRCA2):c.7843_7844delAT (p.Ile2615Phefs) http://identifiers.org/clinvar/290936 ^@ NM_004006.2(DMD):c.4564G>T (p.Val1522Leu) http://identifiers.org/clinvar/291036 ^@ NM_005529.6(HSPG2):c.2664C>T (p.Ser888=) http://identifiers.org/clinvar/291086 ^@ NM_001184.3(ATR):c.1358_1359delAT (p.His453Argfs) http://identifiers.org/clinvar/291136 ^@ NM_173591.3(OTOGL):c.7C>A (p.Pro3Thr) http://identifiers.org/clinvar/291187 ^@ NM_139343.2(BIN1):c.1003-16C>T http://identifiers.org/clinvar/291237 ^@ NM_015346.3(ZFYVE26):c.2799C>T (p.Leu933=) http://identifiers.org/clinvar/291287 ^@ NM_000543.4(SMPD1):c.1021C>T (p.Arg341Cys) http://identifiers.org/clinvar/291402 ^@ NM_001918.3(DBT):c.*5591T>C http://identifiers.org/clinvar/291452 ^@ NM_001918.3(DBT):c.1389C>T (p.Phe463=) http://identifiers.org/clinvar/291502 ^@ NM_001854.3(COL11A1):c.4357-16dupT http://identifiers.org/clinvar/291552 ^@ NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile) http://identifiers.org/clinvar/291602 ^@ NM_015074.3(KIF1B):c.*1049T>C http://identifiers.org/clinvar/292294 ^@ NM_000302.3(PLOD1):c.1388G>A (p.Arg463Gln) http://identifiers.org/clinvar/291994 ^@ NM_002506.2(NGF):c.54G>A (p.Ala18=) http://identifiers.org/clinvar/291894 ^@ NM_013319.2(UBIAD1):c.*1304C>T http://identifiers.org/clinvar/291944 ^@ NM_002524.4(NRAS):c.*3219C>G http://identifiers.org/clinvar/292094 ^@ NM_138959.2(VANGL1):c.*5639_*5640delTT http://identifiers.org/clinvar/291844 ^@ NM_003051.3(SLC16A1):c.*629C>T http://identifiers.org/clinvar/292044 ^@ NM_138959.2(VANGL1):c.*1970C>A http://identifiers.org/clinvar/292494 ^@ NM_004698.2(PRPF3):c.-133A>G http://identifiers.org/clinvar/292144 ^@ NM_001232.3(CASQ2):c.-222C>T http://identifiers.org/clinvar/292544 ^@ NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu) http://identifiers.org/clinvar/292844 ^@ NM_022367.3(SEMA4A):c.95G>T (p.Gly32Val) http://identifiers.org/clinvar/292894 ^@ NM_001012331.1(NTRK1):c.1977G>A (p.Lys659=) http://identifiers.org/clinvar/292194 ^@ NM_005957.4(MTHFR):c.*2526C>T http://identifiers.org/clinvar/292244 ^@ NM_005957.4(MTHFR):c.673A>G (p.Ile225Val) http://identifiers.org/clinvar/293094 ^@ NM_002241.4(KCNJ10):c.*2018_*2019delGT http://identifiers.org/clinvar/293144 ^@ NM_000702.3(ATP1A2):c.*286G>C http://identifiers.org/clinvar/292394 ^@ NM_014874.3(MFN2):c.*912C>T http://identifiers.org/clinvar/292344 ^@ NM_005518.3(HMGCS2):c.95C>T (p.Ala32Val) http://identifiers.org/clinvar/292994 ^@ NM_003126.2(SPTA1):c.3398G>C (p.Arg1133Pro) http://identifiers.org/clinvar/293044 ^@ NM_003126.2(SPTA1):c.854C>T (p.Pro285Leu) http://identifiers.org/clinvar/292444 ^@ NM_005266.6(GJA5):c.*364C>T http://identifiers.org/clinvar/292594 ^@ NM_000449.3(RFX5):c.*1252C>G http://identifiers.org/clinvar/293294 ^@ NM_001643.1(APOA2):c.53-9_53-6delTGTG http://identifiers.org/clinvar/292694 ^@ NM_152263.3(TPM3):c.*41C>G http://identifiers.org/clinvar/292644 ^@ NM_152263.3(TPM3):c.*4333A>G http://identifiers.org/clinvar/292794 ^@ NM_000298.5(PKLR):c.*866T>C http://identifiers.org/clinvar/292744 ^@ NM_001111.4(ADAR):c.*503_*505delCCC http://identifiers.org/clinvar/292944 ^@ NM_003126.2(SPTA1):c.6843-8T>C http://identifiers.org/clinvar/293883 ^@ NM_002065.6(GLUL):c.*2631G>C http://identifiers.org/clinvar/293244 ^@ NM_000309.3(PPOX):c.-67C>G http://identifiers.org/clinvar/293194 ^@ NM_002857.3(PEX19):c.*2421_*2422delCT http://identifiers.org/clinvar/294183 ^@ NM_031935.2(HMCN1):c.7253T>C (p.Ile2418Thr) http://identifiers.org/clinvar/294383 ^@ NM_003748.3(ALDH4A1):c.800C>A (p.Pro267His) http://identifiers.org/clinvar/294883 ^@ NM_001005337.2(PKP1):c.*2568_*2569insA http://identifiers.org/clinvar/293833 ^@ NM_018122.4(DARS2):c.*431G>A http://identifiers.org/clinvar/294933 ^@ NM_003465.2(CHIT1):c.366G>A (p.Ser122=) http://identifiers.org/clinvar/293933 ^@ NM_002065.6(GLUL):c.*399C>T http://identifiers.org/clinvar/295183 ^@ NM_006147.3(IRF6):c.*1473C>G http://identifiers.org/clinvar/344275 ^@ NM_181426.1(CCDC39):c.863G>A (p.Arg288His) http://identifiers.org/clinvar/336406 ^@ NM_002354.2(EPCAM):c.-98C>G http://identifiers.org/clinvar/336099 ^@ NM_133259.3(LRPPRC):c.*2245A>G http://identifiers.org/clinvar/336149 ^@ NM_133259.3(LRPPRC):c.3586G>A (p.Ala1196Thr) http://identifiers.org/clinvar/336199 ^@ NM_000341.3(SLC3A1):c.1136+3delT http://identifiers.org/clinvar/343825 ^@ NM_005677.3(COLQ):c.*1280C>T http://identifiers.org/clinvar/343875 ^@ NM_004733.3(SLC33A1):c.1451A>C (p.Asn484Thr) http://identifiers.org/clinvar/336806 ^@ NM_002056.3(GFPT1):c.*4229A>T http://identifiers.org/clinvar/344025 ^@ NM_001041.3(SI):c.3781G>A (p.Asp1261Asn) http://identifiers.org/clinvar/344175 ^@ NM_198407.2(GHSR):c.*1676_*1679delGATA http://identifiers.org/clinvar/344225 ^@ NM_031955.5(SPATA16):c.130T>A (p.Ser44Thr) http://identifiers.org/clinvar/336556 ^@ NM_001135659.2(NRXN1):c.315C>T (p.Ala105=) http://identifiers.org/clinvar/344325 ^@ NM_003907.2(EIF2B5):c.-153T>G http://identifiers.org/clinvar/336606 ^@ NM_001039348.2(EFEMP1):c.*1063G>A http://identifiers.org/clinvar/336656 ^@ NM_001114636.1(FANCL):c.-13C>T http://identifiers.org/clinvar/336756 ^@ NM_015910.5(WDPCP):c.*104A>C http://identifiers.org/clinvar/337006 ^@ NM_015120.4(ALMS1):c.66_74dupGGAGGAGGA (p.Glu29_Ala30insGluGluGlu) http://identifiers.org/clinvar/342575 ^@ NM_198196.2(CD96):c.*1799G>A http://identifiers.org/clinvar/342725 ^@ NM_020754.3(ARHGAP31):c.*2801C>T http://identifiers.org/clinvar/347624 ^@ NM_172250.2(MMAA):c.*942A>G http://identifiers.org/clinvar/347674 ^@ NM_000901.4(NR3C2):c.*2410T>C http://identifiers.org/clinvar/343025 ^@ NM_000373.3(UMPS):c.*4252G>T http://identifiers.org/clinvar/343125 ^@ NM_032638.4(GATA2):c.*420G>A http://identifiers.org/clinvar/343075 ^@ NM_025265.3(TSEN2):c.748G>A (p.Asp250Asn) http://identifiers.org/clinvar/343525 ^@ NM_024334.2(TMEM43):c.*849T>C http://identifiers.org/clinvar/343275 ^@ NM_000539.3(RHO):c.361+12delG http://identifiers.org/clinvar/343575 ^@ NM_004628.4(XPC):c.1131C>T (p.Cys377=) http://identifiers.org/clinvar/343375 ^@ NM_153240.4(NPHP3):c.3570+4A>G http://identifiers.org/clinvar/343425 ^@ NM_001063.3(TF):c.142G>A (p.Val48Ile) http://identifiers.org/clinvar/343775 ^@ NM_000096.3(CP):c.1191C>G (p.Asn397Lys) http://identifiers.org/clinvar/348363 ^@ NM_207352.3(CYP4V2):c.*2303G>C http://identifiers.org/clinvar/343625 ^@ NM_001184.3(ATR):c.292+15T>G http://identifiers.org/clinvar/354091 ^@ NM_001038603.2(MARVELD2):c.1216G>A (p.Asp406Asn) http://identifiers.org/clinvar/362079 ^@ NM_031466.7(TRAPPC9):c.2539C>T (p.Leu847=) http://identifiers.org/clinvar/354141 ^@ NM_000521.3(HEXB):c.*105T>C http://identifiers.org/clinvar/354191 ^@ NM_003719.3(PDE8B):c.*506_*510delAATAA http://identifiers.org/clinvar/353941 ^@ NM_001104631.1(PDE4D):c.*2515A>T http://identifiers.org/clinvar/353991 ^@ NM_001104631.1(PDE4D):c.1452+8T>C http://identifiers.org/clinvar/354341 ^@ NM_002454.2(MTRR):c.-26+14C>T http://identifiers.org/clinvar/362379 ^@ NM_177924.4(ASAH1):c.457+7G>A http://identifiers.org/clinvar/354391 ^@ NM_004385.4(VCAN):c.591C>T (p.Asp197=) http://identifiers.org/clinvar/362529 ^@ NM_005144.4(HR):c.188C>G (p.Pro63Arg) http://identifiers.org/clinvar/354491 ^@ NM_004385.4(VCAN):c.*1408G>A http://identifiers.org/clinvar/354241 ^@ NM_003664.4(AP3B1):c.1168-9C>T http://identifiers.org/clinvar/354591 ^@ NM_002397.4(MEF2C):c.-207C>T http://identifiers.org/clinvar/359280 ^@ NM_004456.4(EZH2):c.1506-4G>A http://identifiers.org/clinvar/354741 ^@ NM_001491.2(GCNT2):c.*2529A>C http://identifiers.org/clinvar/359330 ^@ NM_016203.3(PRKAG2):c.*887G>A http://identifiers.org/clinvar/359580 ^@ NM_001101426.3(ISPD):c.*112T>G http://identifiers.org/clinvar/363918 ^@ NM_153704.5(TMEM67):c.125_130dupCTTTCC (p.Phe43_Gln44insProPhe) http://identifiers.org/clinvar/355331 ^@ NM_006208.2(ENPP1):c.313+8_313+9insTTGTGT http://identifiers.org/clinvar/359930 ^@ NM_018947.5(CYCS):c.*1294A>G http://identifiers.org/clinvar/355631 ^@ NM_003764.3(STX11):c.*1825C>T http://identifiers.org/clinvar/361119 ^@ NM_017890.4(VPS13B):c.*1355T>G http://identifiers.org/clinvar/360080 ^@ NM_198428.2(BBS9):c.*453C>G http://identifiers.org/clinvar/364318 ^@ NM_005502.3(ABCA1):c.*3312A>C http://identifiers.org/clinvar/364368 ^@ NM_005502.3(ABCA1):c.*368A>G http://identifiers.org/clinvar/364468 ^@ NM_005502.3(ABCA1):c.-18G>C http://identifiers.org/clinvar/364618 ^@ NM_000031.5(ALAD):c.*1950G>A http://identifiers.org/clinvar/355731 ^@ NM_203395.2(IYD):c.*2072A>G http://identifiers.org/clinvar/360530 ^@ NM_004577.3(PSPH):c.-485A>G http://identifiers.org/clinvar/364918 ^@ NM_002316.3(LMX1B):c.*1115T>A http://identifiers.org/clinvar/365068 ^@ NM_003165.3(STXBP1):c.*1484C>T http://identifiers.org/clinvar/365118 ^@ NM_003863.3(DPM2):c.-152A>G http://identifiers.org/clinvar/365168 ^@ NM_001130438.2(SPTAN1):c.4239C>T (p.Ser1413=) http://identifiers.org/clinvar/361169 ^@ NM_015713.4(RRM2B):c.*732A>G http://identifiers.org/clinvar/361369 ^@ NM_178857.5(RP1L1):c.1599G>A (p.Ser533=) http://identifiers.org/clinvar/361470 ^@ NM_001715.2(BLK):c.-124C>T http://identifiers.org/clinvar/365958 ^@ NM_016219.4(MAN1B1):c.936G>T (p.Lys312Asn) http://identifiers.org/clinvar/366008 ^@ NM_024757.4(EHMT1):c.1360G>A (p.Gly454Ser) http://identifiers.org/clinvar/366108 ^@ NM_144966.5(FREM1):c.5916C>T (p.Ser1972=) http://identifiers.org/clinvar/367108 ^@ NM_203447.3(DOCK8):c.*1031G>A http://identifiers.org/clinvar/366658 ^@ NM_001497.3(B4GALT1):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/303110 ^@ NM_006918.4(SC5D):c.*5061A>G http://identifiers.org/clinvar/303260 ^@ NM_022370.3(ROBO3):c.2931A>T (p.Glu977Asp) http://identifiers.org/clinvar/311408 ^@ NM_002010.2(FGF9):c.-452A>T http://identifiers.org/clinvar/366808 ^@ NM_005476.5(GNE):c.*2156G>C http://identifiers.org/clinvar/311658 ^@ NM_015972.3(POLR1D):c.*161C>T http://identifiers.org/clinvar/311708 ^@ NM_004795.3(KL):c.2959G>A (p.Ala987Thr) http://identifiers.org/clinvar/303710 ^@ NM_000525.3(KCNJ11):c.*1055T>A http://identifiers.org/clinvar/311908 ^@ NM_001127217.2(SMAD9):c.-50G>A http://identifiers.org/clinvar/367158 ^@ NM_004972.3(JAK2):c.*1351T>C http://identifiers.org/clinvar/367337 ^@ NM_033305.2(VPS13A):c.-183G>C http://identifiers.org/clinvar/312158 ^@ NM_020751.2(COG6):c.*589C>G http://identifiers.org/clinvar/298582 ^@ NM_016169.3(SUFU):c.*476A>G http://identifiers.org/clinvar/312408 ^@ NM_001004127.2(ALG11):c.-23C>T http://identifiers.org/clinvar/312608 ^@ NM_005708.4(GPC6):c.*4239A>G http://identifiers.org/clinvar/298882 ^@ NM_007373.3(SHOC2):c.*1483G>A http://identifiers.org/clinvar/304499 ^@ NM_000448.2(RAG1):c.799G>A (p.Ala267Thr) http://identifiers.org/clinvar/298782 ^@ NM_005445.3(SMC3):c.*297T>A http://identifiers.org/clinvar/304749 ^@ NM_018389.4(SLC35C1):c.*528G>A http://identifiers.org/clinvar/304849 ^@ NM_002334.3(LRP4):c.5165T>A (p.Leu1722His) http://identifiers.org/clinvar/298932 ^@ NM_004132.4(HABP2):c.*644T>G http://identifiers.org/clinvar/304899 ^@ NM_002334.3(LRP4):c.676+13G>A http://identifiers.org/clinvar/298982 ^@ NM_000141.4(FGFR2):c.*1070T>C http://identifiers.org/clinvar/304999 ^@ NM_004551.2(NDUFS3):c.783T>C (p.Pro261=) http://identifiers.org/clinvar/305201 ^@ NM_000543.4(SMPD1):c.901G>A (p.Val301Ile) http://identifiers.org/clinvar/305251 ^@ NM_144585.3(SLC22A12):c.*46_*48delTCT http://identifiers.org/clinvar/299771 ^@ NM_014915.2(ANKRD26):c.-172A>T http://identifiers.org/clinvar/305451 ^@ NM_053054.3(CATSPER1):c.55G>A (p.Ala19Thr) http://identifiers.org/clinvar/305501 ^@ NM_000391.3(TPP1):c.*668C>A http://identifiers.org/clinvar/300021 ^@ NM_000124.3(ERCC6):c.*751G>A http://identifiers.org/clinvar/314647 ^@ NM_004863.3(SPTLC2):c.*1014C>T http://identifiers.org/clinvar/305651 ^@ NM_145200.3(CABP4):c.455G>A (p.Arg152Gln) http://identifiers.org/clinvar/314697 ^@ NM_000369.2(TSHR):c.1290G>A (p.Leu430=) http://identifiers.org/clinvar/305701 ^@ NM_145200.3(CABP4):c.*1933C>A http://identifiers.org/clinvar/300171 ^@ NM_033056.3(PCDH15):c.5318C>G (p.Pro1773Arg) http://identifiers.org/clinvar/314947 ^@ NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) http://identifiers.org/clinvar/300221 ^@ NM_000417.2(IL2RA):c.*1574C>T http://identifiers.org/clinvar/305901 ^@ NM_012309.4(SHANK2):c.912+2260C>T http://identifiers.org/clinvar/300371 ^@ NM_018344.5(SLC29A3):c.*11A>C http://identifiers.org/clinvar/299821 ^@ NM_021252.4(RAB18):c.*16A>G http://identifiers.org/clinvar/306164 ^@ NM_000260.3(MYO7A):c.895G>A (p.Ala299Thr) http://identifiers.org/clinvar/306214 ^@ NM_024079.4(ALG8):c.1039-5T>C http://identifiers.org/clinvar/300521 ^@ NM_002778.3(PSAP):c.798G>A (p.Ala266=) http://identifiers.org/clinvar/300621 ^@ NM_004273.4(CHST3):c.*1888T>C http://identifiers.org/clinvar/300121 ^@ NM_000242.2(MBL2):c.*1711T>G http://identifiers.org/clinvar/306515 ^@ NM_016156.5(MTMR2):c.*1396C>T http://identifiers.org/clinvar/306565 ^@ NM_030962.3(SBF2):c.*480G>A http://identifiers.org/clinvar/300871 ^@ NM_012330.3(KAT6B):c.2374-10T>C http://identifiers.org/clinvar/300271 ^@ NM_000399.4(EGR2):c.*429G>A http://identifiers.org/clinvar/329159 ^@ NM_033064.4(ATCAY):c.*391C>A http://identifiers.org/clinvar/311208 ^@ NM_001846.3(COL4A2):c.*541C>T http://identifiers.org/clinvar/317787 ^@ NM_004862.3(LITAF):c.100C>A (p.Pro34Thr) http://identifiers.org/clinvar/329709 ^@ NM_000554.5(CRX):c.*401A>C http://identifiers.org/clinvar/310014 ^@ NM_001172696.1(TSFM):c.547-11C>T http://identifiers.org/clinvar/329809 ^@ NM_002103.4(GYS1):c.1848C>T (p.Ala616=) http://identifiers.org/clinvar/329909 ^@ NM_024729.3(MYH14):c.1090+13C>G http://identifiers.org/clinvar/310114 ^@ NM_001065.3(TNFRSF1A):c.-96C>T http://identifiers.org/clinvar/329959 ^@ NM_024729.3(MYH14):c.*243G>A http://identifiers.org/clinvar/330009 ^@ NM_144687.3(NLRP12):c.2757-8C>G http://identifiers.org/clinvar/330159 ^@ NM_206828.3(NLRP7):c.2548C>T (p.His850Tyr) http://identifiers.org/clinvar/310314 ^@ NM_021150.3(GRIP1):c.270T>C (p.Ala90=) http://identifiers.org/clinvar/311808 ^@ NM_001127217.2(SMAD9):c.*3778C>T http://identifiers.org/clinvar/318528 ^@ NM_001083614.1(EARS2):c.*914T>A http://identifiers.org/clinvar/330259 ^@ NM_006087.3(TUBB4A):c.*53G>A http://identifiers.org/clinvar/318778 ^@ NM_173201.3(ATP2A1):c.1780G>A (p.Val594Met) http://identifiers.org/clinvar/318878 ^@ NM_006662.2(SRCAP):c.3911A>G (p.Asn1304Ser) http://identifiers.org/clinvar/318978 ^@ NM_024006.5(VKORC1):c.-160G>C http://identifiers.org/clinvar/312208 ^@ NM_014252.3(SLC25A15):c.*1839_*1843delAAAAG http://identifiers.org/clinvar/312258 ^@ NM_003850.2(SUCLA2):c.*331C>A http://identifiers.org/clinvar/312458 ^@ NM_000115.4(EDNRB):c.*1474G>A http://identifiers.org/clinvar/337995 ^@ NM_001042472.2(ABHD12):c.453C>T (p.Asn151=) http://identifiers.org/clinvar/319428 ^@ NM_022162.2(NOD2):c.531G>A (p.Pro177=) http://identifiers.org/clinvar/319479 ^@ NM_022162.2(NOD2):c.*329_*334dupCCCATG http://identifiers.org/clinvar/312558 ^@ NM_005708.4(GPC6):c.*135T>C http://identifiers.org/clinvar/311158 ^@ NM_001846.3(COL4A2):c.3326G>A (p.Arg1109Gln) http://identifiers.org/clinvar/338495 ^@ NM_000457.4(HNF4A):c.*3104A>C http://identifiers.org/clinvar/338545 ^@ NM_004994.2(MMP9):c.58G>A (p.Ala20Thr) http://identifiers.org/clinvar/338595 ^@ NM_030777.3(SLC2A10):c.965C>T (p.Pro322Leu) http://identifiers.org/clinvar/312908 ^@ NM_000257.3(MYH7):c.2727C>A (p.Ile909=) http://identifiers.org/clinvar/311558 ^@ NM_014363.5(SACS):c.1912T>G (p.Cys638Gly) http://identifiers.org/clinvar/338695 ^@ NM_006420.2(ARFGEF2):c.3046G>C (p.Gly1016Arg) http://identifiers.org/clinvar/311608 ^@ NM_018451.4(CENPJ):c.3934G>A (p.Gly1312Ser) http://identifiers.org/clinvar/313058 ^@ NM_025152.2(NUBPL):c.*1146_*1148delAAG http://identifiers.org/clinvar/339046 ^@ NM_001001433.2(STX16):c.217C>T (p.Arg73Trp) http://identifiers.org/clinvar/311758 ^@ NM_015087.4(SPG20):c.*608C>T http://identifiers.org/clinvar/311858 ^@ NM_001127217.2(SMAD9):c.*1379G>T http://identifiers.org/clinvar/312058 ^@ NM_207361.5(FREM2):c.*1675G>A http://identifiers.org/clinvar/314047 ^@ NM_031427.3(DNAL1):c.*1846C>G http://identifiers.org/clinvar/312508 ^@ NM_052910.2(SLITRK1):c.-240dupG http://identifiers.org/clinvar/327070 ^@ NM_001080467.2(MYO5B):c.1057-4A>G http://identifiers.org/clinvar/327170 ^@ NM_005359.5(SMAD4):c.*4987T>C http://identifiers.org/clinvar/327220 ^@ NM_001083962.1(TCF4):c.*5553dupT http://identifiers.org/clinvar/329059 ^@ NM_000540.2(RYR1):c.7136C>A (p.Ala2379Asp) http://identifiers.org/clinvar/327470 ^@ NM_005603.4(ATP8B1):c.3016-9C>A http://identifiers.org/clinvar/329409 ^@ NM_152296.4(ATP1A3):c.1943+12A>T http://identifiers.org/clinvar/329559 ^@ NM_025136.3(OPA3):c.*6688G>A http://identifiers.org/clinvar/329609 ^@ NM_025136.3(OPA3):c.*4318T>C http://identifiers.org/clinvar/330109 ^@ NM_015629.3(PRPF31):c.1302A>G (p.Val434=) http://identifiers.org/clinvar/330209 ^@ NM_001256714.1(DNAAF3):c.1595C>G (p.Thr532Ser) http://identifiers.org/clinvar/330359 ^@ NM_000208.3(INSR):c.*3857C>T http://identifiers.org/clinvar/337745 ^@ NM_000214.2(JAG1):c.3521C>T (p.Pro1174Leu) http://identifiers.org/clinvar/329009 ^@ NM_000540.2(RYR1):c.3379C>T (p.Arg1127Cys) http://identifiers.org/clinvar/338145 ^@ NM_015338.5(ASXL1):c.*1970G>A http://identifiers.org/clinvar/338195 ^@ NM_006892.3(DNMT3B):c.*747C>T http://identifiers.org/clinvar/338345 ^@ NM_015474.3(SAMHD1):c.840C>T (p.Val280=) http://identifiers.org/clinvar/329509 ^@ NM_000400.3(ERCC2):c.1649C>T (p.Ala550Val) http://identifiers.org/clinvar/329659 ^@ NM_025136.3(OPA3):c.*1238G>A http://identifiers.org/clinvar/338745 ^@ NM_006420.2(ARFGEF2):c.*2820T>G http://identifiers.org/clinvar/329759 ^@ NM_000554.5(CRX):c.*2299C>T http://identifiers.org/clinvar/338946 ^@ NM_004738.4(VAPB):c.*1265G>C http://identifiers.org/clinvar/329859 ^@ NM_017636.3(TRPM4):c.2133-9C>G http://identifiers.org/clinvar/339096 ^@ NM_001001433.2(STX16):c.*2312G>A http://identifiers.org/clinvar/330059 ^@ NM_002739.4(PRKCG):c.286-12C>A http://identifiers.org/clinvar/330309 ^@ NM_000064.3(C3):c.2245+15G>A http://identifiers.org/clinvar/330509 ^@ NM_006702.4(PNPLA6):c.-96A>C http://identifiers.org/clinvar/330609 ^@ NM_030957.3(ADAMTS10):c.613C>T (p.Arg205Trp) http://identifiers.org/clinvar/337895 ^@ NM_000361.2(THBD):c.-12C>T http://identifiers.org/clinvar/337945 ^@ NM_014588.5(VSX1):c.*745G>A http://identifiers.org/clinvar/338045 ^@ NM_033118.3(MYLK2):c.1099C>T (p.Leu367Phe) http://identifiers.org/clinvar/338295 ^@ NM_000178.3(GSS):c.1203C>T (p.Ile401=) http://identifiers.org/clinvar/338395 ^@ NM_005461.4(MAFB):c.*881G>T http://identifiers.org/clinvar/338445 ^@ NM_000457.4(HNF4A):c.*700T>C http://identifiers.org/clinvar/340636 ^@ NM_014339.6(IL17RA):c.*1090G>C http://identifiers.org/clinvar/340736 ^@ NM_014339.6(IL17RA):c.*5678G>C http://identifiers.org/clinvar/340786 ^@ NM_017929.5(PEX26):c.*1265T>A http://identifiers.org/clinvar/338896 ^@ NM_002591.3(PCK1):c.*51G>C http://identifiers.org/clinvar/341036 ^@ NM_022081.5(HPS4):c.-622G>C http://identifiers.org/clinvar/341136 ^@ NM_000268.3(NF2):c.*2205G>A http://identifiers.org/clinvar/341236 ^@ NM_000343.3(SLC5A1):c.152A>G (p.Asn51Ser) http://identifiers.org/clinvar/341286 ^@ NM_000343.3(SLC5A1):c.*1432G>T http://identifiers.org/clinvar/341336 ^@ NM_000362.4(TIMP3):c.-390C>A http://identifiers.org/clinvar/341386 ^@ NM_000362.4(TIMP3):c.*2314C>T http://identifiers.org/clinvar/341486 ^@ NM_002473.5(MYH9):c.*136C>A http://identifiers.org/clinvar/341586 ^@ NM_153609.3(TMPRSS6):c.1468+12G>A http://identifiers.org/clinvar/393015 ^@ NM_032578.3(MYPN):c.1313C>T (p.Thr438Ile) http://identifiers.org/clinvar/379600 ^@ NM_022124.5(CDH23):c.288+1G>C http://identifiers.org/clinvar/391426 ^@ NM_175073.2(APTX):c.-161C>T http://identifiers.org/clinvar/392815 ^@ NM_014000.2(VCL):c.2435-10T>C http://identifiers.org/clinvar/390976 ^@ NM_020822.2(KCNT1):c.541-16C>G http://identifiers.org/clinvar/388437 ^@ NM_020822.2(KCNT1):c.1422C>T (p.Arg474=) http://identifiers.org/clinvar/390076 ^@ NM_203447.3(DOCK8):c.895-9C>T http://identifiers.org/clinvar/383837 ^@ NM_000136.2(FANCC):c.1560C>T (p.His520=) http://identifiers.org/clinvar/388287 ^@ NM_000136.2(FANCC):c.897-18T>C http://identifiers.org/clinvar/378850 ^@ NM_014000.2(VCL):c.3381T>C (p.Val1127=) http://identifiers.org/clinvar/381593 ^@ NM_020975.4(RET):c.937C>T (p.Arg313Trp) http://identifiers.org/clinvar/379550 ^@ NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) http://identifiers.org/clinvar/379000 ^@ NM_004329.2(BMPR1A):c.1395G>A (p.Pro465=) http://identifiers.org/clinvar/390476 ^@ NM_000051.3(ATM):c.5763A>G (p.Arg1921=) http://identifiers.org/clinvar/388037 ^@ NM_006231.3(POLE):c.2244G>A (p.Gln748=) http://identifiers.org/clinvar/380742 ^@ NM_001130438.2(SPTAN1):c.2324C>T (p.Ala775Val) http://identifiers.org/clinvar/380541 ^@ NM_001909.4(CTSD):c.69-16G>A http://identifiers.org/clinvar/384437 ^@ NM_000256.3(MYBPC3):c.1256G>A (p.Arg419His) http://identifiers.org/clinvar/390926 ^@ NM_000093.4(COL5A1):c.1827+16G>A http://identifiers.org/clinvar/380190 ^@ NM_001085372.2(UQCC3):c.250G>C (p.Gly84Arg) http://identifiers.org/clinvar/379250 ^@ NM_020661.3(AICDA):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/379100 ^@ NM_000059.3(BRCA2):c.7665A>G (p.Lys2555=) http://identifiers.org/clinvar/388487 ^@ NM_020297.3(ABCC9):c.3814C>G (p.Leu1272Val) http://identifiers.org/clinvar/391276 ^@ NM_001376.4(DYNC1H1):c.12345C>T (p.Ser4115=) http://identifiers.org/clinvar/379450 ^@ NM_004572.3(PKP2):c.1687A>T (p.Arg563Ter) http://identifiers.org/clinvar/387737 ^@ NM_006329.3(FBLN5):c.1228A>G (p.Ile410Val) http://identifiers.org/clinvar/392715 ^@ NM_001844.4(COL2A1):c.1925G>T (p.Gly642Val) http://identifiers.org/clinvar/381243 ^@ NM_000059.3(BRCA2):c.3279C>T (p.Ser1093=) http://identifiers.org/clinvar/379150 ^@ NM_001482.2(GATM):c.288+20A>G http://identifiers.org/clinvar/384688 ^@ NM_000059.3(BRCA2):c.7359G>A (p.Glu2453=) http://identifiers.org/clinvar/382044 ^@ NM_007078.2(LDB3):c.1728C>T (p.Thr576=) http://identifiers.org/clinvar/387987 ^@ NM_000282.3(PCCA):c.-14C>T http://identifiers.org/clinvar/390876 ^@ NM_001376.4(DYNC1H1):c.13218+17C>A http://identifiers.org/clinvar/389626 ^@ NM_020778.4(ALPK3):c.1621C>T (p.Arg541Cys) http://identifiers.org/clinvar/381443 ^@ NM_001278503.1(STT3A):c.1617A>G (p.Thr539=) http://identifiers.org/clinvar/390176 ^@ NM_130838.1(UBE3A):c.1560C>T (p.Ile520=) http://identifiers.org/clinvar/390426 ^@ NM_002225.3(IVD):c.243+17G>A http://identifiers.org/clinvar/390526 ^@ NM_002471.3(MYH6):c.1581+19C>G http://identifiers.org/clinvar/378192 ^@ NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) http://identifiers.org/clinvar/393065 ^@ NM_003239.4(TGFB3):c.926G>A (p.Arg309His) http://identifiers.org/clinvar/388137 ^@ NM_020778.4(ALPK3):c.3201C>T (p.Pro1067=) http://identifiers.org/clinvar/378750 ^@ NM_001018005.1(TPM1):c.851+6C>A http://identifiers.org/clinvar/392365 ^@ NM_020778.4(ALPK3):c.3540A>G (p.Ala1180=) http://identifiers.org/clinvar/380290 ^@ NM_002693.2(POLG):c.1446C>T (p.Asp482=) http://identifiers.org/clinvar/84 ^@ NM_021828.4(HPSE2):c.1465_1466delAA (p.Asn489Profs) http://identifiers.org/clinvar/427 ^@ NM_178012.4(TUBB2B):c.683T>C (p.Leu228Pro) http://identifiers.org/clinvar/468 ^@ NM_000035.3(ALDOB):c.720C>A (p.Cys240Ter) http://identifiers.org/clinvar/477 ^@ NM_000317.2(PTS):c.46C>T (p.Arg16Cys) http://identifiers.org/clinvar/604 ^@ NM_000277.1(PAH):c.284_286delTCA (p.Ile95del) http://identifiers.org/clinvar/659 ^@ NM_000312.3(PROC):c.631C>T (p.Arg211Trp) http://identifiers.org/clinvar/668 ^@ NM_000312.3(PROC):c.658C>T (p.Arg220Trp) http://identifiers.org/clinvar/868 ^@ NM_001127628.1(FBP1):c.490G>A (p.Gly164Ser) http://identifiers.org/clinvar/942 ^@ NM_000404.3(GLB1):c.1498A>G (p.Thr500Ala) http://identifiers.org/clinvar/1000 ^@ NM_001172813.1(SLC30A8):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/2200 ^@ NM_001145809.1(MYH14):c.359C>T (p.Ser120Leu) http://identifiers.org/clinvar/2246 ^@ NM_000433.3(NCF2):c.383C>T (p.Ala128Val) http://identifiers.org/clinvar/2291 ^@ NM_015046.5(SETX):c.6407G>A (p.Arg2136His) http://identifiers.org/clinvar/2337 ^@ NM_130468.3(CHST14):c.638G>C (p.Arg213Pro) http://identifiers.org/clinvar/2383 ^@ BCKDHA, 1-BP DEL, 117C http://identifiers.org/clinvar/2428 ^@ NM_153006.2(NAGS):c.971G>A (p.Trp324Ter) http://identifiers.org/clinvar/2473 ^@ NM_000401.3(EXT2):c.1404+1G>A http://identifiers.org/clinvar/2519 ^@ NM_015265.3(SATB2):c.715C>T (p.Arg239Ter) http://identifiers.org/clinvar/2567 ^@ NM_006493.2(CLN5):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/2612 ^@ NM_001128085.1(ASPA):c.692A>G (p.Tyr231Cys) http://identifiers.org/clinvar/2659 ^@ NM_198428.2(BBS9):c.421G>A (p.Gly141Arg) http://identifiers.org/clinvar/10135 ^@ F8, EX5DEL http://identifiers.org/clinvar/13199 ^@ NM_001098668.3(SFTPA2):c.692G>T (p.Gly231Val) http://identifiers.org/clinvar/13249 ^@ NM_002739.4(PRKCG):c.1927T>C (p.Phe643Leu) http://identifiers.org/clinvar/13300 ^@ NM_000141.4(FGFR2):c.962A>C (p.Asp321Ala) http://identifiers.org/clinvar/13351 ^@ NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) http://identifiers.org/clinvar/13405 ^@ NM_000311.4(PRNP):c.538G>A (p.Val180Ile) http://identifiers.org/clinvar/13456 ^@ NM_000371.3(TTR):c.157T>C (p.Phe53Leu) http://identifiers.org/clinvar/13507 ^@ NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) http://identifiers.org/clinvar/13557 ^@ NM_000212.2(ITGB3):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/36671 ^@ NM_174936.3(PCSK9):c.524-11G>A http://identifiers.org/clinvar/36723 ^@ NM_020975.4(RET):c.166C>A (p.Leu56Met) http://identifiers.org/clinvar/36776 ^@ NM_000451.3(SHOX):c.63C>T (p.Gly21=) http://identifiers.org/clinvar/36826 ^@ NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser) http://identifiers.org/clinvar/36876 ^@ NM_003276.2(TMPO):c.877T>G (p.Ser293Ala) http://identifiers.org/clinvar/36944 ^@ NM_198253.2(TERT):c.2583-2A>C http://identifiers.org/clinvar/37039 ^@ NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) http://identifiers.org/clinvar/37107 ^@ NM_152296.4(ATP1A3):c.2401G>A (p.Asp801Asn) http://identifiers.org/clinvar/37239 ^@ NM_030787.3(CFHR5):c.314T>G (p.Leu105Arg) http://identifiers.org/clinvar/37317 ^@ NM_005340.6(HINT1):c.184C>T (p.Gln62Ter) http://identifiers.org/clinvar/37401 ^@ NM_007294.3(BRCA1):c.1340_1341insG (p.His448Serfs) http://identifiers.org/clinvar/37453 ^@ NM_007294.3(BRCA1):c.2158G>T (p.Glu720Ter) http://identifiers.org/clinvar/41004 ^@ NM_000171.3(GLRA1):c.(?_-287)_697+?del http://identifiers.org/clinvar/41063 ^@ NM_003611.2(OFD1):c.1178dupA (p.Glu394Glyfs) http://identifiers.org/clinvar/41119 ^@ NM_003611.2(OFD1):c.412+2delT http://identifiers.org/clinvar/41172 ^@ NM_003977.3(AIP):c.286_287delGT (p.Val96Profs) http://identifiers.org/clinvar/41229 ^@ NM_004862.3(LITAF):c.332C>G (p.Ala111Gly) http://identifiers.org/clinvar/51132 ^@ NM_000059.3(BRCA2):c.1483G>C (p.Ala495Pro) http://identifiers.org/clinvar/51183 ^@ NM_000059.3(BRCA2):c.1748delT (p.Leu583Terfs) http://identifiers.org/clinvar/51438 ^@ NM_000059.3(BRCA2):c.3265C>T (p.Gln1089Ter) http://identifiers.org/clinvar/51489 ^@ NM_000059.3(BRCA2):c.3570delG (p.Lys1191Serfs) http://identifiers.org/clinvar/51540 ^@ NM_000059.3(BRCA2):c.3848T>G (p.Val1283Gly) http://identifiers.org/clinvar/51592 ^@ NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) http://identifiers.org/clinvar/51644 ^@ NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) http://identifiers.org/clinvar/51695 ^@ NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) http://identifiers.org/clinvar/51746 ^@ NM_000059.3(BRCA2):c.4940_4941delCA (p.Thr1647Serfs) http://identifiers.org/clinvar/51798 ^@ NM_000059.3(BRCA2):c.517-16T>C http://identifiers.org/clinvar/51850 ^@ NM_000059.3(BRCA2):c.538_539delAT (p.Ile180Phefs) http://identifiers.org/clinvar/51902 ^@ NM_000059.3(BRCA2):c.5661G>A (p.Thr1887=) http://identifiers.org/clinvar/51954 ^@ NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) http://identifiers.org/clinvar/52006 ^@ NM_000059.3(BRCA2):c.6082G>T (p.Glu2028Ter) http://identifiers.org/clinvar/52057 ^@ NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) http://identifiers.org/clinvar/52111 ^@ NM_000059.3(BRCA2):c.6462T>G (p.Tyr2154Ter) http://identifiers.org/clinvar/52162 ^@ NM_000059.3(BRCA2):c.67+2T>A http://identifiers.org/clinvar/52212 ^@ NM_000059.3(BRCA2):c.6842G>T (p.Gly2281Val) http://identifiers.org/clinvar/52263 ^@ NM_000059.3(BRCA2):c.707A>G (p.His236Arg) http://identifiers.org/clinvar/52314 ^@ NM_000059.3(BRCA2):c.7375A>T (p.Lys2459Ter) http://identifiers.org/clinvar/52364 ^@ NM_000059.3(BRCA2):c.7617+2T>G http://identifiers.org/clinvar/52415 ^@ NM_000059.3(BRCA2):c.7805G>C (p.Arg2602Thr) http://identifiers.org/clinvar/52465 ^@ NM_000059.3(BRCA2):c.7996A>T (p.Arg2666Ter) http://identifiers.org/clinvar/52515 ^@ NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) http://identifiers.org/clinvar/52566 ^@ NM_000059.3(BRCA2):c.8364G>A (p.Trp2788Ter) http://identifiers.org/clinvar/52616 ^@ NM_000059.3(BRCA2):c.8539G>A (p.Glu2847Lys) http://identifiers.org/clinvar/52668 ^@ NM_000059.3(BRCA2):c.8754+3G>C http://identifiers.org/clinvar/52718 ^@ NM_000059.3(BRCA2):c.8978_8991delCATCAGATTTATAT (p.Ser2993Phefs) http://identifiers.org/clinvar/52769 ^@ NM_000059.3(BRCA2):c.9182T>A (p.Leu3061Ter) http://identifiers.org/clinvar/52820 ^@ NM_000059.3(BRCA2):c.9356_9357delTAinsG (p.Leu3119Terfs) http://identifiers.org/clinvar/52871 ^@ NM_000059.3(BRCA2):c.9572G>A (p.Trp3191Ter) http://identifiers.org/clinvar/53572 ^@ NM_000492.3(CFTR):c.2815C>G (p.His939Asp) http://identifiers.org/clinvar/53623 ^@ NM_000492.3(CFTR):c.3002_3003delTG (p.Val1001Aspfs) http://identifiers.org/clinvar/53675 ^@ NM_000492.3(CFTR):c.3193C>T (p.Leu1065Phe) http://identifiers.org/clinvar/53725 ^@ NM_000492.3(CFTR):c.3367+6A>G http://identifiers.org/clinvar/53776 ^@ NM_000492.3(CFTR):c.3600A>G (p.Lys1200=) http://identifiers.org/clinvar/53828 ^@ NM_000492.3(CFTR):c.3873+2T>C http://identifiers.org/clinvar/53880 ^@ NM_000492.3(CFTR):c.4045G>A (p.Gly1349Ser) http://identifiers.org/clinvar/53931 ^@ NM_000492.3(CFTR):c.4243-1G>C http://identifiers.org/clinvar/53981 ^@ NM_000492.3(CFTR):c.4_53+69del119ins299 http://identifiers.org/clinvar/54031 ^@ NM_000492.3(CFTR):c.627A>G (p.Ala209=) http://identifiers.org/clinvar/54083 ^@ NM_000492.3(CFTR):c.912C>G (p.Tyr304Ter) http://identifiers.org/clinvar/54133 ^@ NM_007294.3(BRCA1):c.1112delC (p.Pro371Leufs) http://identifiers.org/clinvar/54183 ^@ NM_007294.3(BRCA1):c.1266T>G (p.Tyr422Ter) http://identifiers.org/clinvar/54233 ^@ NM_007294.3(BRCA1):c.1386dupG (p.Lys463Glufs) http://identifiers.org/clinvar/54284 ^@ NM_007294.3(BRCA1):c.1520G>T (p.Arg507Ile) http://identifiers.org/clinvar/54334 ^@ NM_007294.3(BRCA1):c.1723G>A (p.Glu575Lys) http://identifiers.org/clinvar/54385 ^@ NM_007294.3(BRCA1):c.1895G>A (p.Ser632Asn) http://identifiers.org/clinvar/54435 ^@ NM_007294.3(BRCA1):c.2014A>T (p.Lys672Ter) http://identifiers.org/clinvar/54485 ^@ NM_007294.3(BRCA1):c.2176delC (p.Leu726Phefs) http://identifiers.org/clinvar/54535 ^@ NM_007294.3(BRCA1):c.2325_2326insA (p.Asp776Argfs) http://identifiers.org/clinvar/54585 ^@ NM_007294.3(BRCA1):c.2487dupT (p.Lys830Terfs) http://identifiers.org/clinvar/54635 ^@ NM_007294.3(BRCA1):c.266T>C (p.Ile89Thr) http://identifiers.org/clinvar/54685 ^@ NM_007294.3(BRCA1):c.2808_2811delTAAG (p.Lys937Glnfs) http://identifiers.org/clinvar/54735 ^@ NM_007294.3(BRCA1):c.2973_2979delAACTAAA (p.Lys991Asnfs) http://identifiers.org/clinvar/54785 ^@ NM_007294.3(BRCA1):c.3164delG (p.Gly1055Alafs) http://identifiers.org/clinvar/54835 ^@ NM_007294.3(BRCA1):c.3314delA (p.His1105Leufs) http://identifiers.org/clinvar/54885 ^@ NM_007294.3(BRCA1):c.3436_3439delTGTT (p.Cys1146Leufs) http://identifiers.org/clinvar/55869 ^@ NM_006012.2(CLPP):c.440G>C (p.Cys147Ser) http://identifiers.org/clinvar/56358 ^@ NM_001126105.2(SLC7A7):c.1387delG (p.Val463Cysfs) http://identifiers.org/clinvar/56410 ^@ NM_004260.3(RECQL4):c.3599_3600delCG (p.Thr1200Argfs) http://identifiers.org/clinvar/56460 ^@ NM_004646.3(NPHS1):c.2071+2T>C http://identifiers.org/clinvar/56510 ^@ NM_004646.3(NPHS1):c.516delC (p.Ile173Phefs) http://identifiers.org/clinvar/56561 ^@ NM_015272.4(RPGRIP1L):c.1829A>C (p.His610Pro) http://identifiers.org/clinvar/56617 ^@ NM_017777.3(MKS1):c.1450_1453dupGGCA (p.Thr485Argfs) http://identifiers.org/clinvar/56669 ^@ NM_017890.4(VPS13B):c.4820+2T>C http://identifiers.org/clinvar/56719 ^@ NM_018941.3(CLN8):c.766C>G (p.Gln256Glu) http://identifiers.org/clinvar/56769 ^@ NM_153704.5(TMEM67):c.161A>G (p.Tyr54Cys) http://identifiers.org/clinvar/56902 ^@ NM_005664.3(MKRN3):c.1172dupA (p.Tyr391Terfs) http://identifiers.org/clinvar/57029 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 http://identifiers.org/clinvar/57084 ^@ GRCh38/hg38 9p24.3(chr9:204193-1288113)x3 http://identifiers.org/clinvar/57138 ^@ GRCh38/hg38 6q25.3(chr6:156228411-157108989)x1 http://identifiers.org/clinvar/57189 ^@ GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1 http://identifiers.org/clinvar/57242 ^@ GRCh38/hg38 13q33.2(chr13:105209681-105727745)x1 http://identifiers.org/clinvar/57296 ^@ GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3 http://identifiers.org/clinvar/57349 ^@ GRCh38/hg38 17q21.31(chr17:46444520-46742963)x1 http://identifiers.org/clinvar/57400 ^@ GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 http://identifiers.org/clinvar/101167 ^@ NM_000090.3(COL3A1):c.3482G>T (p.Gly1161Val) http://identifiers.org/clinvar/101217 ^@ NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu) http://identifiers.org/clinvar/101267 ^@ NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) http://identifiers.org/clinvar/101317 ^@ NM_000090.3(COL3A1):c.997-2A>G (p.Gly333_Lys350del+) http://identifiers.org/clinvar/101367 ^@ NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) http://identifiers.org/clinvar/101417 ^@ NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK) http://identifiers.org/clinvar/101467 ^@ NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) http://identifiers.org/clinvar/101528 ^@ NM_001013703.3(EIF2AK4):c.3766C>T (p.Arg1256Ter) http://identifiers.org/clinvar/102480 ^@ NM_000277.1(PAH):c.1030G>C (p.Gly344Arg) http://identifiers.org/clinvar/102536 ^@ NM_000277.1(PAH):c.1155G>C (p.Leu385=) http://identifiers.org/clinvar/102589 ^@ NM_000277.1(PAH):c.1315+4A>G http://identifiers.org/clinvar/102643 ^@ NM_000277.1(PAH):c.275C>T (p.Thr92Ile) http://identifiers.org/clinvar/120281 ^@ NM_000277.1(PAH):c.60+5G>A http://identifiers.org/clinvar/125438 ^@ PGAP3, 1-BP DUP, 439C http://identifiers.org/clinvar/125501 ^@ NM_007294.3(BRCA1):c.1462dupA (p.Thr488Asnfs) http://identifiers.org/clinvar/125571 ^@ NM_007294.3(BRCA1):c.2474dupA (p.Asp825Glufs) http://identifiers.org/clinvar/161019 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 http://identifiers.org/clinvar/161119 ^@ NM_015506.2(MMACHC):c.464G>A (p.Gly155Glu) http://identifiers.org/clinvar/161251 ^@ NM_000190.3(HMBS):c.583C>T (p.Arg195Cys) http://identifiers.org/clinvar/161201 ^@ NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) http://identifiers.org/clinvar/161670 ^@ NM_014236.3(GNPAT):c.1935G>C (p.Lys645Asn) http://identifiers.org/clinvar/161720 ^@ NM_018557.2(LRP1B):c.6648G>T (p.Glu2216Asp) http://identifiers.org/clinvar/161820 ^@ NM_153021.4(PLB1):c.3195+7C>A http://identifiers.org/clinvar/161570 ^@ NM_001204824.1(KCNQ3):c.986A>T (p.Asn329Ile) http://identifiers.org/clinvar/161770 ^@ NM_024730.3(RERGL):c.415C>A (p.Gln139Lys) http://identifiers.org/clinvar/161520 ^@ NM_001127585.1(ING4):c.254C>A (p.Ala85Asp) http://identifiers.org/clinvar/161620 ^@ NM_004138.3(KRT33A):c.215A>G (p.Glu72Gly) http://identifiers.org/clinvar/162050 ^@ NM_021830.4(TWNK):c.1321T>G (p.Trp441Gly) http://identifiers.org/clinvar/162110 ^@ NM_005211.3(CSF1R):c.1889T>G (p.Leu630Arg) http://identifiers.org/clinvar/162169 ^@ NR_033928.1(LOC389641):n.238G>T http://identifiers.org/clinvar/162381 ^@ NM_152778.2(MFSD8):c.863+3_863+4insT http://identifiers.org/clinvar/162462 ^@ NM_001134418.1(P3H2):c.13C>T (p.Gln5Ter) http://identifiers.org/clinvar/162515 ^@ NM_005360.4(MAF):c.176C>A (p.Pro59His) http://identifiers.org/clinvar/162596 ^@ NM_013382.5(POMT2):c.-47_-44delGACA http://identifiers.org/clinvar/179039 ^@ NM_001256850.1(TTN):c.85066T>A (p.Leu28356Met) http://identifiers.org/clinvar/166464 ^@ NM_206933.2(USH2A):c.9307A>G (p.Ile3103Val) http://identifiers.org/clinvar/178671 ^@ NM_206933.2(USH2A):c.4252-16_4252-13delCTTT http://identifiers.org/clinvar/165893 ^@ NM_133378.4(TTN):c.57945G>T (p.Leu19315Phe) http://identifiers.org/clinvar/165766 ^@ NM_001256850.1(TTN):c.83374G>A (p.Asp27792Asn) http://identifiers.org/clinvar/179139 ^@ NM_001256850.1(TTN):c.76955_76956delTT (p.Phe25652Cysfs) http://identifiers.org/clinvar/178889 ^@ NM_133378.4(TTN):c.24115G>A (p.Val8039Met) http://identifiers.org/clinvar/179189 ^@ NM_133378.4(TTN):c.12748G>A (p.Gly4250Arg) http://identifiers.org/clinvar/166282 ^@ NM_133379.4(TTN):c.10684T>G (p.Ser3562Ala) http://identifiers.org/clinvar/166093 ^@ NM_133378.4(TTN):c.31742-9T>A http://identifiers.org/clinvar/166232 ^@ NM_133432.3(TTN):c.12568G>A (p.Glu4190Lys) http://identifiers.org/clinvar/166336 ^@ NM_133378.4(TTN):c.2283_2288delTAAAGC (p.Lys762_Ala763del) http://identifiers.org/clinvar/163150 ^@ NM_001369.2(DNAH5):c.5114+11T>C http://identifiers.org/clinvar/163027 ^@ NM_001927.3(DES):c.735+1G>C http://identifiers.org/clinvar/165976 ^@ NM_133378.4(TTN):c.46503A>G (p.Pro15501=) http://identifiers.org/clinvar/165394 ^@ NM_003242.5(TGFBR2):c.1082_1084delTCC (p.Leu361del) http://identifiers.org/clinvar/165498 ^@ NM_003280.2(TNNC1):c.56-8G>A http://identifiers.org/clinvar/163701 ^@ NM_001199799.1(ILDR1):c.451G>A (p.Gly151Arg) http://identifiers.org/clinvar/178838 ^@ NM_206883.2(SLC26A5):c.1514+1G>A http://identifiers.org/clinvar/163100 ^@ NM_001277115.1(DNAH11):c.3112A>G (p.Thr1038Ala) http://identifiers.org/clinvar/178738 ^@ NM_001277115.1(DNAH11):c.12943G>A (p.Ala4315Thr) http://identifiers.org/clinvar/163335 ^@ NM_005228.4(EGFR):c.2126A>G (p.Glu709Gly) http://identifiers.org/clinvar/178370 ^@ NM_032119.3(ADGRV1):c.14761G>A (p.Ala4921Thr) http://identifiers.org/clinvar/163622 ^@ NM_032119.3(ADGRV1):c.16285G>A (p.Glu5429Lys) http://identifiers.org/clinvar/198436 ^@ NM_000795.3(DRD2):c.957C>T (p.Pro319=) http://identifiers.org/clinvar/198487 ^@ NM_002880.3(RAF1):c.683C>G (p.Ser228Cys) http://identifiers.org/clinvar/198541 ^@ NM_006363.4(SEC23B):c.773A>G (p.Gln258Arg) http://identifiers.org/clinvar/198593 ^@ NM_024809.4(TCTN2):c.810C>T (p.Asp270=) http://identifiers.org/clinvar/198644 ^@ NM_182914.2(SYNE2):c.13377C>G (p.Leu4459=) http://identifiers.org/clinvar/198695 ^@ NM_000202.7(IDS):c.1007-8T>G http://identifiers.org/clinvar/198750 ^@ NM_000784.3(CYP27A1):c.1343G>A (p.Arg448His) http://identifiers.org/clinvar/198801 ^@ NM_004385.4(VCAN):c.6902T>G (p.Phe2301Cys) http://identifiers.org/clinvar/198855 ^@ NM_014244.4(ADAMTS2):c.1281C>T (p.Asp427=) http://identifiers.org/clinvar/198908 ^@ NM_024596.4(MCPH1):c.1369G>A (p.Glu457Lys) http://identifiers.org/clinvar/198961 ^@ NM_000540.2(RYR1):c.11811G>A (p.Ser3937=) http://identifiers.org/clinvar/199013 ^@ NM_033290.3(MID1):c.1537T>C (p.Ser513Pro) http://identifiers.org/clinvar/201542 ^@ NM_198056.2(SCN5A):c.5626G>A (p.Glu1876Lys) http://identifiers.org/clinvar/201600 ^@ NM_198056.2(SCN5A):c.4472delA (p.Gln1491Argfs) http://identifiers.org/clinvar/201485 ^@ NM_198056.2(SCN5A):c.2956C>T (p.Arg986Trp) http://identifiers.org/clinvar/201429 ^@ NM_198056.2(SCN5A):c.262A>G (p.Ser88Gly) http://identifiers.org/clinvar/200006 ^@ NM_000138.4(FBN1):c.2926C>T (p.Arg976Cys) http://identifiers.org/clinvar/201932 ^@ NM_144573.3(NEXN):c.1805C>T (p.Thr602Met) http://identifiers.org/clinvar/201713 ^@ NM_001927.3(DES):c.166G>C (p.Val56Leu) http://identifiers.org/clinvar/202045 ^@ NM_001134363.2(RBM20):c.1617G>T (p.Gly539=) http://identifiers.org/clinvar/201876 ^@ NM_032578.3(MYPN):c.903-6731G>C http://identifiers.org/clinvar/202163 ^@ NM_014000.2(VCL):c.2828_2829delCT (p.Pro943Argfs) http://identifiers.org/clinvar/201656 ^@ NM_014391.2(ANKRD1):c.346-15_346-14delTT http://identifiers.org/clinvar/201988 ^@ NM_004572.3(PKP2):c.1669A>G (p.Asn557Asp) http://identifiers.org/clinvar/202104 ^@ NM_003673.3(TCAP):c.334C>T (p.Gln112Ter) http://identifiers.org/clinvar/201824 ^@ NM_002230.2(JUP):c.1355C>T (p.Thr452Met) http://identifiers.org/clinvar/201768 ^@ NM_001390.4(DTNA):c.2020C>T (p.His674Tyr) http://identifiers.org/clinvar/202213 ^@ NM_003900.4(SQSTM1):c.714_716delGAA (p.Lys238del) http://identifiers.org/clinvar/202499 ^@ NM_001256850.1(TTN):c.97227delT (p.Asp32410Thrfs) http://identifiers.org/clinvar/202336 ^@ NM_001256850.1(TTN):c.91498A>G (p.Ile30500Val) http://identifiers.org/clinvar/202907 ^@ NM_001256850.1(TTN):c.76562C>T (p.Ser25521Leu) http://identifiers.org/clinvar/202857 ^@ NM_001256850.1(TTN):c.69730G>A (p.Ala23244Thr) http://identifiers.org/clinvar/202807 ^@ NM_001256850.1(TTN):c.62230C>T (p.Pro20744Ser) http://identifiers.org/clinvar/230835 ^@ NM_000038.5(APC):c.6896C>T (p.Pro2299Leu) http://identifiers.org/clinvar/232675 ^@ NM_005732.3(RAD50):c.269A>G (p.Asn90Ser) http://identifiers.org/clinvar/232374 ^@ NM_005732.3(RAD50):c.918C>T (p.Asp306=) http://identifiers.org/clinvar/232224 ^@ NM_005732.3(RAD50):c.1930A>C (p.Arg644=) http://identifiers.org/clinvar/230785 ^@ NM_005732.3(RAD50):c.3715C>T (p.Arg1239Ter) http://identifiers.org/clinvar/230935 ^@ NM_004168.3(SDHA):c.1228A>G (p.Met410Val) http://identifiers.org/clinvar/232074 ^@ NM_000535.6(PMS2):c.2479A>G (p.Met827Val) http://identifiers.org/clinvar/231385 ^@ NM_000077.4(CDKN2A):c.192G>T (p.Leu64=) http://identifiers.org/clinvar/233777 ^@ NM_000314.6(PTEN):c.203A>G (p.Tyr68Cys) http://identifiers.org/clinvar/232124 ^@ NM_000051.3(ATM):c.1162A>G (p.Lys388Glu) http://identifiers.org/clinvar/230585 ^@ NM_000051.3(ATM):c.1439_1448delTATTAAAACT (p.Leu480Serfs) http://identifiers.org/clinvar/233475 ^@ NM_000051.3(ATM):c.2500G>T (p.Glu834Ter) http://identifiers.org/clinvar/233075 ^@ NM_000051.3(ATM):c.3157G>C (p.Asp1053His) http://identifiers.org/clinvar/230885 ^@ NM_000051.3(ATM):c.8761A>T (p.Thr2921Ser) http://identifiers.org/clinvar/232975 ^@ NM_005591.3(MRE11):c.1190A>G (p.His397Arg) http://identifiers.org/clinvar/232274 ^@ NM_005591.3(MRE11):c.1169C>T (p.Ala390Val) http://identifiers.org/clinvar/232825 ^@ NM_005591.3(MRE11):c.1045C>T (p.Arg349Trp) http://identifiers.org/clinvar/233225 ^@ NM_005591.3(MRE11):c.263C>T (p.Pro88Leu) http://identifiers.org/clinvar/230735 ^@ NM_000059.3(BRCA2):c.7880T>A (p.Ile2627Asn) http://identifiers.org/clinvar/231085 ^@ NM_000059.3(BRCA2):c.8352G>T (p.Arg2784=) http://identifiers.org/clinvar/232875 ^@ NM_000059.3(BRCA2):c.8356delG (p.Ala2786Leufs) http://identifiers.org/clinvar/233025 ^@ NM_000548.4(TSC2):c.1807A>T (p.Thr603Ser) http://identifiers.org/clinvar/230985 ^@ NM_024675.3(PALB2):c.2481A>T (p.Thr827=) http://identifiers.org/clinvar/232324 ^@ NM_024675.3(PALB2):c.2280delT (p.Ala761Leufs) http://identifiers.org/clinvar/232174 ^@ NM_024675.3(PALB2):c.2112T>A (p.Leu704=) http://identifiers.org/clinvar/233878 ^@ NM_004360.4(CDH1):c.336C>A (p.Thr112=) http://identifiers.org/clinvar/231035 ^@ NM_001042492.2(NF1):c.3976T>A (p.Leu1326Ile) http://identifiers.org/clinvar/233275 ^@ NM_001042492.2(NF1):c.4826T>C (p.Val1609Ala) http://identifiers.org/clinvar/232574 ^@ NM_002878.3(RAD51D):c.109G>C (p.Glu37Gln) http://identifiers.org/clinvar/231185 ^@ NM_007294.3(BRCA1):c.4727A>G (p.Glu1576Gly) http://identifiers.org/clinvar/233325 ^@ NM_058216.2(RAD51C):c.651A>T (p.Thr217=) http://identifiers.org/clinvar/230635 ^@ NM_058216.2(RAD51C):c.954C>T (p.Asp318=) http://identifiers.org/clinvar/233125 ^@ NM_000455.4(STK11):c.318G>T (p.Arg106=) http://identifiers.org/clinvar/232725 ^@ NM_007194.3(CHEK2):c.478A>G (p.Ile160Val) http://identifiers.org/clinvar/235042 ^@ NM_004387.3(NKX2-5):c.443delC (p.Ala148Glyfs) http://identifiers.org/clinvar/234992 ^@ NM_000117.2(EMD):c.73C>A (p.Pro25Thr) http://identifiers.org/clinvar/235092 ^@ NM_032890.3(DISP1):c.1657G>A (p.Glu553Lys) http://identifiers.org/clinvar/235228 ^@ NC_012920.1:m.3843A>G http://identifiers.org/clinvar/235283 ^@ NM_000492.3(CFTR):c.164+28A>G http://identifiers.org/clinvar/235335 ^@ NM_003126.2(SPTA1):c.6559A>G (p.Lys2187Glu) http://identifiers.org/clinvar/235388 ^@ NC_012920.1:m.12903T>C http://identifiers.org/clinvar/235444 ^@ NM_001271208.1(NEB):c.9467T>A (p.Ile3156Asn) http://identifiers.org/clinvar/235496 ^@ NM_002641.3(PIGA):c.68dupG (p.Ser24Lysfs) http://identifiers.org/clinvar/235549 ^@ NM_005629.3(SLC6A8):c.1496-8C>T http://identifiers.org/clinvar/235600 ^@ NM_153603.3(COG7):c.2087C>T (p.Ala696Val) http://identifiers.org/clinvar/235651 ^@ NM_033087.3(ALG2):c.30C>G (p.Asp10Glu) http://identifiers.org/clinvar/235706 ^@ NM_000095.2(COMP):c.1279_1291delGGAGATGCTTGTG (p.Gly427Thrfs) http://identifiers.org/clinvar/235768 ^@ NM_000071.2(CBS):c.*540G>A http://identifiers.org/clinvar/235840 ^@ NM_022068.3(PIEZO2):c.7067C>T (p.Thr2356Met) http://identifiers.org/clinvar/235921 ^@ NM_001168272.1(ITPR1):c.6281A>G (p.Glu2094Gly) http://identifiers.org/clinvar/236124 ^@ NM_000350.2(ABCA4):c.5137C>A (p.Gln1713Lys) http://identifiers.org/clinvar/236074 ^@ NM_000350.2(ABCA4):c.206G>A (p.Trp69Ter) http://identifiers.org/clinvar/236174 ^@ NM_004621.5(TRPC6):c.1293+48T>C http://identifiers.org/clinvar/236262 ^@ NM_007294.3(BRCA1):c.5278-2del http://identifiers.org/clinvar/236313 ^@ NC_000001.9:g.144967972_146293282dup1325311 http://identifiers.org/clinvar/236363 ^@ NC_000020.9:g.14771513_14936935del165423 http://identifiers.org/clinvar/236414 ^@ NM_006269.1(RP1):c.2749C>T (p.Gln917Ter) http://identifiers.org/clinvar/236464 ^@ NM_025114.3(CEP290):c.297+1G>T http://identifiers.org/clinvar/240954 ^@ NM_015074.3(KIF1B):c.1542A>G (p.Gln514=) http://identifiers.org/clinvar/239111 ^@ NM_002241.4(KCNJ10):c.62T>C (p.Met21Thr) http://identifiers.org/clinvar/238860 ^@ NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) http://identifiers.org/clinvar/238810 ^@ NM_001267550.2(TTN):c.58381G>A (p.Val19461Met) http://identifiers.org/clinvar/237810 ^@ NM_000465.3(BARD1):c.1006T>C (p.Cys336Arg) http://identifiers.org/clinvar/237409 ^@ NM_000251.2(MSH2):c.792G>A (p.Gln264=) http://identifiers.org/clinvar/237359 ^@ NM_000251.2(MSH2):c.1171G>A (p.Ala391Thr) http://identifiers.org/clinvar/241004 ^@ NM_015120.4(ALMS1):c.60_77del18 (p.Glu24_Glu29del) http://identifiers.org/clinvar/238110 ^@ NM_000551.3(VHL):c.507A>C (p.Leu169=) http://identifiers.org/clinvar/237760 ^@ NM_000388.3(CASR):c.1775A>G (p.Asn592Ser) http://identifiers.org/clinvar/237309 ^@ NM_000249.3(MLH1):c.1078G>T (p.Val360Phe) http://identifiers.org/clinvar/240053 ^@ NM_004656.3(BAP1):c.1946G>A (p.Cys649Tyr) http://identifiers.org/clinvar/238610 ^@ NM_001166110.1(PALLD):c.394C>G (p.Arg132Gly) http://identifiers.org/clinvar/240354 ^@ NM_006206.4(PDGFRA):c.612_613invTG (p.Val205Ile) http://identifiers.org/clinvar/240304 ^@ NM_006206.4(PDGFRA):c.1320G>A (p.Thr440=) http://identifiers.org/clinvar/237259 ^@ NM_000222.2(KIT):c.2337C>T (p.Gly779=) http://identifiers.org/clinvar/238960 ^@ NM_001369.2(DNAH5):c.12523G>A (p.Val4175Met) http://identifiers.org/clinvar/239061 ^@ NM_001903.4(CTNNA1):c.1845C>T (p.Ser615=) http://identifiers.org/clinvar/240704 ^@ NM_006772.2(SYNGAP1):c.1491T>C (p.Tyr497=) http://identifiers.org/clinvar/238210 ^@ NM_001014.4(RPS10):c.135C>T (p.Val45=) http://identifiers.org/clinvar/238660 ^@ NM_001206927.1(DNAH8):c.9859+19_9859+23delAATGG http://identifiers.org/clinvar/238910 ^@ NM_001277115.1(DNAH11):c.3365C>T (p.Thr1122Ile) http://identifiers.org/clinvar/237910 ^@ NM_000535.6(PMS2):c.2469C>T (p.Asn823=) http://identifiers.org/clinvar/260353 ^@ NM_014208.3(DSPP):c.*17G>A http://identifiers.org/clinvar/258513 ^@ NM_001999.3(FBN2):c.2813-37C>A http://identifiers.org/clinvar/263102 ^@ NM_198253.2(TERT):c.1449C>T (p.Asn483=) http://identifiers.org/clinvar/258063 ^@ NM_001369.2(DNAH5):c.8247C>T (p.Tyr2749=) http://identifiers.org/clinvar/258013 ^@ NM_001369.2(DNAH5):c.2578-36A>T http://identifiers.org/clinvar/260053 ^@ NM_006846.3(SPINK5):c.2667-4G>A http://identifiers.org/clinvar/263052 ^@ NM_182925.4(FLT4):c.3807+34G>C http://identifiers.org/clinvar/257363 ^@ NM_001080479.2(ARHGEF28):c.2297+16C>T http://identifiers.org/clinvar/260153 ^@ NM_007214.4(SEC63):c.2027C>T (p.Thr676Ile) http://identifiers.org/clinvar/256074 ^@ NM_000426.3(LAMA2):c.5121C>T (p.Asp1707=) http://identifiers.org/clinvar/259163 ^@ NM_003764.3(STX11):c.799G>A (p.Val267Met) http://identifiers.org/clinvar/258363 ^@ NM_001851.4(COL9A1):c.975+45G>A http://identifiers.org/clinvar/260253 ^@ NM_012338.3(TSPAN12):c.765G>T (p.Pro255=) http://identifiers.org/clinvar/257463 ^@ NM_001101426.3(ISPD):c.67G>T (p.Gly23Cys) http://identifiers.org/clinvar/257913 ^@ NM_001277115.1(DNAH11):c.5850C>T (p.Ile1950=) http://identifiers.org/clinvar/257863 ^@ NM_001277115.1(DNAH11):c.12521T>G (p.Leu4174Arg) http://identifiers.org/clinvar/255424 ^@ NM_000168.5(GLI3):c.1509C>T (p.Asn503=) http://identifiers.org/clinvar/256174 ^@ NM_000445.4(PLEC):c.3837+32G>A http://identifiers.org/clinvar/259113 ^@ NM_003640.4(IKBKAP):c.3473C>T (p.Pro1158Leu) http://identifiers.org/clinvar/260503 ^@ NM_015046.5(SETX):c.3090T>C (p.Leu1030=) http://identifiers.org/clinvar/260203 ^@ NM_012144.3(DNAI1):c.2001+19T>A http://identifiers.org/clinvar/256324 ^@ NM_000507.3(FBP1):c.705+14C>T http://identifiers.org/clinvar/255674 ^@ NM_000264.3(PTCH1):c.2184G>A (p.Thr728=) http://identifiers.org/clinvar/259213 ^@ NM_003990.4(PAX2):c.213-20C>T http://identifiers.org/clinvar/256274 ^@ NM_000494.3(COL17A1):c.3278-9C>G http://identifiers.org/clinvar/260453 ^@ NM_014915.2(ANKRD26):c.-140C>G http://identifiers.org/clinvar/263252 ^@ NM_199292.2(TH):c.279G>A (p.Ser93=) http://identifiers.org/clinvar/255624 ^@ NM_000256.3(MYBPC3):c.1352-16C>T http://identifiers.org/clinvar/258563 ^@ NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) http://identifiers.org/clinvar/258663 ^@ NM_002465.3(MYBPC1):c.2809+12T>C http://identifiers.org/clinvar/260403 ^@ NM_014365.2(HSPB8):c.582C>T (p.Thr194=) http://identifiers.org/clinvar/258213 ^@ NM_001844.4(COL2A1):c.1649G>T (p.Arg550Leu) http://identifiers.org/clinvar/259063 ^@ NM_003482.3(KMT2D):c.9034C>T (p.Leu3012=) http://identifiers.org/clinvar/256674 ^@ NM_000552.4(VWF):c.3789G>A (p.Ser1263=) http://identifiers.org/clinvar/258263 ^@ NM_001845.5(COL4A1):c.808-7C>G http://identifiers.org/clinvar/255824 ^@ NM_000321.2(RB1):c.380+45C>T http://identifiers.org/clinvar/258713 ^@ NM_002471.3(MYH6):c.5164-22A>G http://identifiers.org/clinvar/255374 ^@ NM_000153.3(GALC):c.196-43C>T http://identifiers.org/clinvar/255724 ^@ NM_000275.2(OCA2):c.1844A>G (p.His615Arg) http://identifiers.org/clinvar/263302 ^@ NM_207581.3(DUOXA2):c.298C>G (p.Arg100Gly) http://identifiers.org/clinvar/255874 ^@ NM_000338.2(SLC12A1):c.2873T>C (p.Val958Ala) http://identifiers.org/clinvar/335310 ^@ NM_152783.4(D2HGDH):c.-37C>T http://identifiers.org/clinvar/336299 ^@ NM_001430.4(EPAS1):c.*733C>G http://identifiers.org/clinvar/336349 ^@ NM_139279.5(MCFD2):c.*1875T>C http://identifiers.org/clinvar/337406 ^@ NM_004836.6(EIF2AK3):c.2093G>A (p.Arg698His) http://identifiers.org/clinvar/337456 ^@ NM_017849.3(TMEM127):c.*2719G>A http://identifiers.org/clinvar/337606 ^@ NM_020184.3(CNNM4):c.*1158C>T http://identifiers.org/clinvar/342536 ^@ NM_198196.2(CD96):c.1214G>A (p.Ser405Asn) http://identifiers.org/clinvar/337256 ^@ NM_000821.6(GGCX):c.*25T>C http://identifiers.org/clinvar/342936 ^@ NM_000373.3(UMPS):c.1374T>C (p.Asp458=) http://identifiers.org/clinvar/343036 ^@ NM_000373.3(UMPS):c.*4755G>A http://identifiers.org/clinvar/342286 ^@ NM_016247.3(IMPG2):c.*3007G>A http://identifiers.org/clinvar/343136 ^@ NM_032638.4(GATA2):c.1326C>T (p.His442=) http://identifiers.org/clinvar/335160 ^@ NM_004544.3(NDUFA10):c.*3075T>G http://identifiers.org/clinvar/342636 ^@ NM_020754.3(ARHGAP31):c.848T>A (p.Leu283His) http://identifiers.org/clinvar/342686 ^@ NM_020754.3(ARHGAP31):c.*610T>A http://identifiers.org/clinvar/342886 ^@ NM_053025.3(MYLK):c.2781C>T (p.Ala927=) http://identifiers.org/clinvar/350615 ^@ NM_005573.3(LMNB1):c.676C>T (p.Arg226Cys) http://identifiers.org/clinvar/350765 ^@ NM_001999.3(FBN2):c.6994G>A (p.Asp2332Asn) http://identifiers.org/clinvar/350865 ^@ NM_000358.2(TGFBI):c.-106C>T http://identifiers.org/clinvar/354891 ^@ NM_007214.4(SEC63):c.2034+10A>G http://identifiers.org/clinvar/354941 ^@ NM_014028.3(OSTM1):c.*2364A>G http://identifiers.org/clinvar/351015 ^@ NM_001369.2(DNAH5):c.12546G>A (p.Lys4182=) http://identifiers.org/clinvar/354991 ^@ NM_014028.3(OSTM1):c.67C>T (p.Leu23=) http://identifiers.org/clinvar/351215 ^@ NM_001369.2(DNAH5):c.1090-6T>C http://identifiers.org/clinvar/350965 ^@ NM_017415.2(KLHL3):c.*1310C>T http://identifiers.org/clinvar/355142 ^@ NM_002667.4(PLN):c.*415T>C http://identifiers.org/clinvar/358341 ^@ NM_198999.2(SLC26A5):c.*92A>G http://identifiers.org/clinvar/351115 ^@ NM_199189.2(MATR3):c.-139G>A http://identifiers.org/clinvar/351365 ^@ NM_001018077.1(NR3C1):c.2250C>T (p.Pro750=) http://identifiers.org/clinvar/358591 ^@ NM_000108.4(DLD):c.*1736T>C http://identifiers.org/clinvar/358691 ^@ NM_001127500.2(MET):c.2419-14G>T http://identifiers.org/clinvar/355642 ^@ NM_003764.3(STX11):c.*2982T>A http://identifiers.org/clinvar/358741 ^@ NM_000492.3(CFTR):c.*442C>T http://identifiers.org/clinvar/355692 ^@ NM_203395.2(IYD):c.*460_*461delTT http://identifiers.org/clinvar/358791 ^@ NM_006193.2(PAX4):c.*211A>G http://identifiers.org/clinvar/351415 ^@ NM_054027.4(ANKH):c.*4251T>C http://identifiers.org/clinvar/351665 ^@ NM_024577.3(SH3TC2):c.*14429T>G http://identifiers.org/clinvar/358841 ^@ NM_000230.2(LEP):c.*2053G>A http://identifiers.org/clinvar/358891 ^@ NM_018718.2(CEP41):c.*4464T>C http://identifiers.org/clinvar/358941 ^@ NM_018718.2(CEP41):c.988G>C (p.Ala330Pro) http://identifiers.org/clinvar/351715 ^@ NM_024577.3(SH3TC2):c.*10107_*10110dupACCA http://identifiers.org/clinvar/359141 ^@ NM_001080413.3(NOBOX):c.1507C>G (p.Leu503Val) http://identifiers.org/clinvar/359191 ^@ NM_014141.5(CNTNAP2):c.2570C>A (p.Ser857Tyr) http://identifiers.org/clinvar/352052 ^@ NM_000112.3(SLC26A2):c.*1552G>C http://identifiers.org/clinvar/352152 ^@ NM_005211.3(CSF1R):c.1319+12C>T http://identifiers.org/clinvar/359641 ^@ NM_001277115.1(DNAH11):c.6274-5T>C http://identifiers.org/clinvar/352102 ^@ NM_005211.3(CSF1R):c.*715C>T http://identifiers.org/clinvar/352502 ^@ NM_005546.3(ITK):c.*2191C>T http://identifiers.org/clinvar/352552 ^@ NM_002187.2(IL12B):c.*1272_*1275delATTT http://identifiers.org/clinvar/352302 ^@ NM_000405.4(GM2A):c.*2801A>G http://identifiers.org/clinvar/352352 ^@ NM_000337.5(SGCD):c.*1373A>G http://identifiers.org/clinvar/352402 ^@ NM_000337.5(SGCD):c.*5201T>C http://identifiers.org/clinvar/352452 ^@ NM_000337.5(SGCD):c.*8110A>C http://identifiers.org/clinvar/352752 ^@ NM_001017995.2(SH3PXD2B):c.*2956G>A http://identifiers.org/clinvar/352902 ^@ NM_022455.4(NSD1):c.*1014dupT http://identifiers.org/clinvar/360630 ^@ NM_153033.4(KCTD7):c.*3938_*3940delCAA http://identifiers.org/clinvar/360680 ^@ NM_000501.3(ELN):c.*997G>T http://identifiers.org/clinvar/360780 ^@ NM_000601.5(HGF):c.921A>C (p.Gln307His) http://identifiers.org/clinvar/353202 ^@ NM_004168.3(SDHA):c.269T>C (p.Val90Ala) http://identifiers.org/clinvar/360930 ^@ NM_000466.2(PEX1):c.830A>G (p.Gln277Arg) http://identifiers.org/clinvar/353352 ^@ NM_004172.4(SLC1A3):c.*1381A>G http://identifiers.org/clinvar/360980 ^@ NM_000089.3(COL1A2):c.*415T>G http://identifiers.org/clinvar/353152 ^@ NM_003900.4(SQSTM1):c.-25G>A http://identifiers.org/clinvar/361130 ^@ NM_015713.4(RRM2B):c.*3289A>G http://identifiers.org/clinvar/361230 ^@ NM_178857.5(RP1L1):c.6159C>T (p.Asp2053=) http://identifiers.org/clinvar/361431 ^@ NM_178857.5(RP1L1):c.33G>A (p.Pro11=) http://identifiers.org/clinvar/361538 ^@ NM_014112.4(TRPS1):c.*4305T>G http://identifiers.org/clinvar/353452 ^@ NM_023073.3(C5orf42):c.4379G>C (p.Ser1460Thr) http://identifiers.org/clinvar/361790 ^@ NM_004519.3(KCNQ3):c.*5578A>G http://identifiers.org/clinvar/299782 ^@ NM_032844.4(MASTL):c.-157C>T http://identifiers.org/clinvar/363729 ^@ NM_018972.2(GDAP1):c.*858G>T http://identifiers.org/clinvar/363779 ^@ NM_000318.2(PEX2):c.*2306A>G http://identifiers.org/clinvar/300032 ^@ NM_000124.3(ERCC6):c.*38A>G http://identifiers.org/clinvar/363979 ^@ NM_177965.3(C8orf37):c.*2617G>T http://identifiers.org/clinvar/364279 ^@ NM_001701.3(BAAT):c.473G>T (p.Gly158Val) http://identifiers.org/clinvar/300282 ^@ NM_000399.4(EGR2):c.-289_-286delACTG http://identifiers.org/clinvar/300332 ^@ NM_001083116.1(PRF1):c.591C>T (p.Leu197=) http://identifiers.org/clinvar/364429 ^@ NM_005502.3(ABCA1):c.2337+8C>A http://identifiers.org/clinvar/364479 ^@ NM_005502.3(ABCA1):c.-279C>G http://identifiers.org/clinvar/364379 ^@ NM_005502.3(ABCA1):c.6401+13A>G http://identifiers.org/clinvar/300432 ^@ NM_022124.5(CDH23):c.4346G>A (p.Gly1449Asp) http://identifiers.org/clinvar/307265 ^@ NM_002834.4(PTPN11):c.*4019C>T http://identifiers.org/clinvar/307465 ^@ NM_000545.6(HNF1A):c.*214G>A http://identifiers.org/clinvar/307565 ^@ NM_024809.4(TCTN2):c.*166T>G http://identifiers.org/clinvar/307715 ^@ NM_000834.3(GRIN2B):c.*1164A>G http://identifiers.org/clinvar/365418 ^@ NM_000368.4(TSC1):c.*3538A>G http://identifiers.org/clinvar/301321 ^@ NM_001012720.1(RGR):c.512+8G>A http://identifiers.org/clinvar/301371 ^@ NM_004329.2(BMPR1A):c.*1426C>T http://identifiers.org/clinvar/365718 ^@ NM_000093.4(COL5A1):c.3111G>A (p.Thr1037=) http://identifiers.org/clinvar/301671 ^@ NM_016341.3(PLCE1):c.-351T>G http://identifiers.org/clinvar/365818 ^@ NM_014564.4(LHX3):c.791-15C>A http://identifiers.org/clinvar/365468 ^@ NM_000368.4(TSC1):c.*1861G>A http://identifiers.org/clinvar/365518 ^@ NM_000368.4(TSC1):c.1002G>A (p.Ser334=) http://identifiers.org/clinvar/365919 ^@ NM_006412.3(AGPAT2):c.732C>T (p.Leu244=) http://identifiers.org/clinvar/365618 ^@ NM_014694.3(ADAMTSL2):c.*280C>A http://identifiers.org/clinvar/365668 ^@ NM_000787.3(DBH):c.1563-3C>T http://identifiers.org/clinvar/366019 ^@ NM_024757.4(EHMT1):c.2712+13C>T http://identifiers.org/clinvar/301921 ^@ NM_004621.5(TRPC6):c.-317C>G http://identifiers.org/clinvar/302121 ^@ NM_001080463.1(DYNC2H1):c.12410A>G (p.Lys4137Arg) http://identifiers.org/clinvar/366269 ^@ NM_002451.3(MTAP):c.*895G>A http://identifiers.org/clinvar/365969 ^@ NM_016219.4(MAN1B1):c.1724A>G (p.Asn575Ser) http://identifiers.org/clinvar/366069 ^@ NM_144966.5(FREM1):c.*1784A>G http://identifiers.org/clinvar/366519 ^@ NM_001256054.2(C9orf72):c.1260-18_1260-14dupTTTTT http://identifiers.org/clinvar/366169 ^@ NM_144966.5(FREM1):c.550G>A (p.Ala184Thr) http://identifiers.org/clinvar/366219 ^@ NM_003070.4(SMARCA2):c.3267G>A (p.Arg1089=) http://identifiers.org/clinvar/310669 ^@ NM_001920.4(DCN):c.-325A>G http://identifiers.org/clinvar/310769 ^@ NM_003276.2(TMPO):c.1662A>G (p.Gln554=) http://identifiers.org/clinvar/310969 ^@ NM_002312.3(LIG4):c.*56G>C http://identifiers.org/clinvar/321943 ^@ NM_017775.3(TTC19):c.270C>G (p.Asp90Glu) http://identifiers.org/clinvar/312658 ^@ NM_001376.4(DYNC1H1):c.12759C>T (p.Gly4253=) http://identifiers.org/clinvar/340597 ^@ NM_014339.6(IL17RA):c.1407C>T (p.Cys469=) http://identifiers.org/clinvar/322093 ^@ NM_145691.3(ATPAF2):c.*132C>T http://identifiers.org/clinvar/340647 ^@ NM_014339.6(IL17RA):c.*1861G>A http://identifiers.org/clinvar/322193 ^@ NM_016239.3(MYO15A):c.*714G>A http://identifiers.org/clinvar/340897 ^@ NM_004782.3(SNAP29):c.*2937_*2944delAAAAAAAA http://identifiers.org/clinvar/340997 ^@ NM_022081.5(HPS4):c.*391G>A http://identifiers.org/clinvar/322543 ^@ NM_001045.5(SLC6A4):c.-149C>A http://identifiers.org/clinvar/313158 ^@ NM_006194.3(PAX9):c.-321C>A http://identifiers.org/clinvar/322693 ^@ NM_145068.3(TRPV3):c.*2365T>C http://identifiers.org/clinvar/322643 ^@ NM_000286.2(PEX12):c.*532A>G http://identifiers.org/clinvar/313458 ^@ NM_005982.3(SIX1):c.*371A>G http://identifiers.org/clinvar/315347 ^@ NM_144599.4(NIPA1):c.*4734G>C http://identifiers.org/clinvar/315497 ^@ NM_002420.5(TRPM1):c.4135C>A (p.Pro1379Thr) http://identifiers.org/clinvar/313608 ^@ NM_182914.2(SYNE2):c.15263C>A (p.Pro5088Gln) http://identifiers.org/clinvar/315697 ^@ NM_005159.4(ACTC1):c.*269C>T http://identifiers.org/clinvar/313908 ^@ NM_015346.3(ZFYVE26):c.2852C>T (p.Thr951Met) http://identifiers.org/clinvar/315847 ^@ NM_144508.4(KNL1):c.1560C>T (p.Leu520=) http://identifiers.org/clinvar/323682 ^@ NM_005910.5(MAPT):c.*1721C>T http://identifiers.org/clinvar/323782 ^@ NM_001193466.1(KANSL1):c.1432-4G>A http://identifiers.org/clinvar/314158 ^@ NM_031427.3(DNAL1):c.*7748G>A http://identifiers.org/clinvar/316147 ^@ NM_014080.4(DUOX2):c.3558C>T (p.Thr1186=) http://identifiers.org/clinvar/324138 ^@ NM_053013.3(ENO3):c.254T>C (p.Val85Ala) http://identifiers.org/clinvar/314408 ^@ NM_017791.2(FLVCR2):c.78C>A (p.Ser26Arg) http://identifiers.org/clinvar/324189 ^@ NM_015294.4(TRIM37):c.2776G>T (p.Asp926Tyr) http://identifiers.org/clinvar/314458 ^@ NM_003239.4(TGFB3):c.-536dupT http://identifiers.org/clinvar/324541 ^@ NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) http://identifiers.org/clinvar/324641 ^@ NM_004655.3(AXIN2):c.*156G>A http://identifiers.org/clinvar/324791 ^@ NM_002734.4(PRKAR1A):c.*587delT http://identifiers.org/clinvar/315097 ^@ NM_177438.2(DICER1):c.*166A>G http://identifiers.org/clinvar/315597 ^@ NM_133647.1(SLC12A6):c.*826C>T http://identifiers.org/clinvar/315897 ^@ NM_000070.2(CAPN3):c.2088C>T (p.Ser696=) http://identifiers.org/clinvar/317887 ^@ NM_032520.4(GNPTG):c.548C>T (p.Ala183Val) http://identifiers.org/clinvar/315947 ^@ NM_138477.2(CDAN1):c.1524A>G (p.Gln508=) http://identifiers.org/clinvar/316097 ^@ NM_025137.3(SPG11):c.3145+12C>T http://identifiers.org/clinvar/317937 ^@ NM_001287.5(CLCN7):c.*355C>T http://identifiers.org/clinvar/317987 ^@ NM_014714.3(IFT140):c.4277G>A (p.Gly1426Glu) http://identifiers.org/clinvar/316197 ^@ NM_014080.4(DUOX2):c.-46A>G http://identifiers.org/clinvar/318189 ^@ NM_014714.3(IFT140):c.1649G>A (p.Arg550Gln) http://identifiers.org/clinvar/318089 ^@ NM_001143979.1(NDE1):c.948-9270T>C http://identifiers.org/clinvar/325831 ^@ NM_000199.3(SGSH):c.1268G>C (p.Trp423Ser) http://identifiers.org/clinvar/371902 ^@ NM_000077.4(CDKN2A):c.458-541A>G http://identifiers.org/clinvar/372052 ^@ NM_000314.6(PTEN):c.801+8C>G http://identifiers.org/clinvar/372002 ^@ NM_006231.3(POLE):c.6532-19G>T http://identifiers.org/clinvar/371952 ^@ NM_024675.3(PALB2):c.3201+20G>T http://identifiers.org/clinvar/372102 ^@ NM_006412.3(AGPAT2):c.183-2A>G http://identifiers.org/clinvar/372164 ^@ NM_003412.3(ZIC1):c.1198G>C (p.Gly400Arg) http://identifiers.org/clinvar/372231 ^@ NM_207421.4(PADI6):c.970C>T (p.Gln324Ter) http://identifiers.org/clinvar/372285 ^@ NM_173685.2(NSMCE2):c.346delT (p.Ser116Leufs) http://identifiers.org/clinvar/372906 ^@ NM_001256850.1(TTN):c.39740delA (p.Asn13247Metfs) http://identifiers.org/clinvar/373008 ^@ NM_001165963.1(SCN1A):c.1662G>C (p.Gln554His) http://identifiers.org/clinvar/372548 ^@ NM_025216.2(WNT10A):c.337C>T (p.Arg113Cys) http://identifiers.org/clinvar/372338 ^@ NM_000094.3(COL7A1):c.5261dupC (p.Gly1755Argfs) http://identifiers.org/clinvar/372598 ^@ NM_000856.5(GUCY1A3):c.1909C>T (p.Arg637Ter) http://identifiers.org/clinvar/372802 ^@ NM_000443.3(ABCB4):c.526C>T (p.Arg176Trp) http://identifiers.org/clinvar/372702 ^@ NM_015093.5(TAB2):c.403C>T (p.Gln135Ter) http://identifiers.org/clinvar/372958 ^@ NM_004415.3(DSP):c.6940G>T (p.Glu2314Ter) http://identifiers.org/clinvar/372388 ^@ NM_019892.5(INPP5E):c.1361A>G (p.Asp454Gly) http://identifiers.org/clinvar/372649 ^@ NM_000218.2(KCNQ1):c.1190G>A (p.Arg397Gln) http://identifiers.org/clinvar/372855 ^@ NM_016725.2(FOLR1):c.357+1G>A http://identifiers.org/clinvar/372439 ^@ NM_000280.4(PAX6):c.109dupG (p.Ala37Glyfs) http://identifiers.org/clinvar/372752 ^@ NM_000088.3(COL1A1):c.3150_3158dupTCCTGGTGC (p.Gly1055_Pro1056insAlaProGly) http://identifiers.org/clinvar/372495 ^@ NM_001022.3(RPS19):c.406G>T (p.Gly136Ter) http://identifiers.org/clinvar/374492 ^@ NM_001024858.2(SPTB):c.2197G>C (p.Ala733Pro) http://identifiers.org/clinvar/374542 ^@ NM_001301140.1(ISCU):c.17C>T (p.Ala6Val) http://identifiers.org/clinvar/374592 ^@ NM_206933.2(USH2A):c.5167+1G>C http://identifiers.org/clinvar/374642 ^@ NM_003919.2(SGCE):c.391A>G (p.Ile131Val) http://identifiers.org/clinvar/374692 ^@ NM_201253.2(CRB1):c.2746C>T (p.Leu916Phe) http://identifiers.org/clinvar/374742 ^@ NM_000260.3(MYO7A):c.134_135insAC (p.Trp47Thrfs) http://identifiers.org/clinvar/374802 ^@ NM_003688.3:c.116_117delCA http://identifiers.org/clinvar/374852 ^@ NM_007198.3(PLPBP):c.233C>G (p.Ser78Ter) http://identifiers.org/clinvar/374909 ^@ NM_020738.3(KIDINS220):c.4096C>T (p.Gln1366Ter) http://identifiers.org/clinvar/374969 ^@ NM_006231.3(POLE):c.3670G>T (p.Ala1224Ser) http://identifiers.org/clinvar/375244 ^@ NM_000543.4(SMPD1):c.1341-10_1429dup http://identifiers.org/clinvar/375300 ^@ NM_001999.3(FBN2):c.2945G>T (p.Cys982Phe) http://identifiers.org/clinvar/375355 ^@ NM_000520.5(HEXA):c.637T>C (p.Tyr213His) http://identifiers.org/clinvar/375406 ^@ NM_004004.5(GJB2):c.-22-2A>C http://identifiers.org/clinvar/375466 ^@ NM_000138.4(FBN1):c.2563C>T (p.Gln855Ter) http://identifiers.org/clinvar/375529 ^@ NM_021072.3(HCN1):c.1172G>A (p.Gly391Asp) http://identifiers.org/clinvar/375588 ^@ NM_001429.3(EP300):c.1672A>G (p.Thr558Ala) http://identifiers.org/clinvar/375646 ^@ NM_181453.3(GCC2):c.1070A>G (p.Tyr357Cys) http://identifiers.org/clinvar/375735 ^@ NM_001013663.1(PTRHD1):c.157C>T (p.His53Tyr) http://identifiers.org/clinvar/375791 ^@ NM_000527.4(LDLR):c.673_674insTGCAA (p.Lys225Metfs) http://identifiers.org/clinvar/375841 ^@ NM_000527.4(LDLR):c.2482dupT (p.Tyr828Leufs) http://identifiers.org/clinvar/375894 ^@ NM_001904.3(CTNNB1):c.110C>A (p.Ser37Tyr) http://identifiers.org/clinvar/380552 ^@ NM_015929.3(LIPT1):c.-39G>A http://identifiers.org/clinvar/380301 ^@ NM_006070.5(TFG):c.415+16A>G http://identifiers.org/clinvar/379750 ^@ NM_000465.3(BARD1):c.1622C>A (p.Ser541Ter) http://identifiers.org/clinvar/392926 ^@ NM_139125.3(MASP1):c.1136C>T (p.Thr379Ile) http://identifiers.org/clinvar/378153 ^@ NM_000251.2(MSH2):c.-39C>T http://identifiers.org/clinvar/383547 ^@ NM_000251.2(MSH2):c.156G>C (p.Leu52=) http://identifiers.org/clinvar/389887 ^@ NM_001148.4(ANK2):c.8463C>A (p.Asp2821Glu) http://identifiers.org/clinvar/384298 ^@ NM_024582.4(FAT4):c.8586G>A (p.Val2862=) http://identifiers.org/clinvar/389387 ^@ NM_015120.4(ALMS1):c.5789G>A (p.Arg1930Gln) http://identifiers.org/clinvar/392376 ^@ NM_172250.2(MMAA):c.-71G>C http://identifiers.org/clinvar/380652 ^@ NM_002488.4(NDUFA2):c.102-11C>G http://identifiers.org/clinvar/392876 ^@ NM_025074.6(FRAS1):c.6925G>C (p.Asp2309His) http://identifiers.org/clinvar/387998 ^@ NM_006005.3(WFS1):c.543G>C (p.Leu181=) http://identifiers.org/clinvar/384098 ^@ NM_000551.3(VHL):c.612G>A (p.Glu204=) http://identifiers.org/clinvar/384799 ^@ NM_001999.3(FBN2):c.4773G>T (p.Leu1591=) http://identifiers.org/clinvar/391826 ^@ NM_182943.2(PLOD2):c.1949T>C (p.Phe650Ser) http://identifiers.org/clinvar/380051 ^@ NM_002887.3(RARS):c.342G>A (p.Gln114=) http://identifiers.org/clinvar/378303 ^@ NM_022455.4(NSD1):c.2031T>G (p.Ser677=) http://identifiers.org/clinvar/380602 ^@ NM_002290.4(LAMA4):c.2472+20A>T http://identifiers.org/clinvar/377851 ^@ NM_006567.4(FARS2):c.519G>C (p.Val173=) http://identifiers.org/clinvar/389487 ^@ NM_005051.2(QARS):c.266-17G>A http://identifiers.org/clinvar/380151 ^@ NM_001167734.1(VARS2):c.664-9C>T http://identifiers.org/clinvar/380803 ^@ NM_024582.4(FAT4):c.13398G>A (p.Val4466=) http://identifiers.org/clinvar/388098 ^@ NM_058246.3(DNAJB6):c.798C>T (p.Ala266=) http://identifiers.org/clinvar/388048 ^@ NM_005506.3(SCARB2):c.1194G>A (p.Thr398=) http://identifiers.org/clinvar/391976 ^@ NM_022726.3(ELOVL4):c.506G>A (p.Trp169Ter) http://identifiers.org/clinvar/389637 ^@ NM_016203.3(PRKAG2):c.387C>A (p.Ser129=) http://identifiers.org/clinvar/377951 ^@ NM_000238.3(KCNH2):c.783G>A (p.Ser261=) http://identifiers.org/clinvar/377901 ^@ NM_000806.5(GABRA1):c.-15-20C>T http://identifiers.org/clinvar/389687 ^@ NM_032237.4(POMK):c.618C>T (p.Asn206=) http://identifiers.org/clinvar/381743 ^@ NM_004820.4(CYP7B1):c.440G>A (p.Gly147Asp) http://identifiers.org/clinvar/391776 ^@ NM_000445.4(PLEC):c.10098G>A (p.Lys3366=) http://identifiers.org/clinvar/388987 ^@ NM_004408.3(DNM1):c.450C>G (p.Pro150=) http://identifiers.org/clinvar/379650 ^@ NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) http://identifiers.org/clinvar/378659 ^@ NM_001130438.2(SPTAN1):c.4260T>G (p.Leu1420=) http://identifiers.org/clinvar/383998 ^@ NM_032634.3(PIGO):c.656-8C>T http://identifiers.org/clinvar/380351 ^@ NM_003172.3(SURF1):c.834-13T>C http://identifiers.org/clinvar/391526 ^@ NM_003165.3(STXBP1):c.964-5T>A http://identifiers.org/clinvar/389187 ^@ NM_012123.3(MTO1):c.1308T>C (p.Pro436=) http://identifiers.org/clinvar/379851 ^@ NM_018294.5(CWF19L1):c.850-2A>G http://identifiers.org/clinvar/133432 ^@ NM_000548.4(TSC2):c.3884-47G>T http://identifiers.org/clinvar/133482 ^@ NM_004304.4(ALK):c.1100C>G (p.Pro367Arg) http://identifiers.org/clinvar/133533 ^@ NM_000038.5(APC):c.6907G>A (p.Gly2303Arg) http://identifiers.org/clinvar/133583 ^@ NM_015338.5(ASXL1):c.3442C>T (p.Arg1148Cys) http://identifiers.org/clinvar/133633 ^@ NM_000051.3(ATM):c.7757A>G (p.Asn2586Ser) http://identifiers.org/clinvar/133787 ^@ NM_032415.5(CARD11):c.1595C>T (p.Thr532Met) http://identifiers.org/clinvar/133887 ^@ NM_007194.3(CHEK2):c.58C>T (p.Gln20Ter) http://identifiers.org/clinvar/133937 ^@ NM_004380.2(CREBBP):c.6524A>G (p.Asn2175Ser) http://identifiers.org/clinvar/133987 ^@ NM_001077706.2(ECT2L):c.1318T>G (p.Trp440Gly) http://identifiers.org/clinvar/134037 ^@ NM_001429.3(EP300):c.2774dupC (p.Thr926Tyrfs) http://identifiers.org/clinvar/134089 ^@ NM_001005862.2(ERBB2):c.343C>T (p.Leu115Phe) http://identifiers.org/clinvar/134139 ^@ NM_005236.2(ERCC4):c.2590C>T (p.Arg864Cys) http://identifiers.org/clinvar/134189 ^@ NM_000123.3(ERCC5):c.1571C>T (p.Pro524Leu) http://identifiers.org/clinvar/134239 ^@ NM_000135.2(FANCA):c.862G>T (p.Glu288Ter) http://identifiers.org/clinvar/134290 ^@ NM_000135.2(FANCA):c.679C>G (p.His227Asp) http://identifiers.org/clinvar/134340 ^@ NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) http://identifiers.org/clinvar/134391 ^@ NM_000141.4(FGFR2):c.2329G>A (p.Glu777Lys) http://identifiers.org/clinvar/134441 ^@ NM_004119.2(FLT3):c.2962G>C (p.Ala988Pro) http://identifiers.org/clinvar/134491 ^@ NM_001077490.2(GNAS):c.297A>G (p.Leu99=) http://identifiers.org/clinvar/134541 ^@ NM_002227.3(JAK1):c.1516C>T (p.Arg506Cys) http://identifiers.org/clinvar/134591 ^@ NM_004187.3(KDM5C):c.738G>C (p.Met246Ile) http://identifiers.org/clinvar/134642 ^@ NM_001127500.2(MET):c.2602A>G (p.Ile868Val) http://identifiers.org/clinvar/134693 ^@ NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) http://identifiers.org/clinvar/134744 ^@ NM_170606.2(KMT2C):c.181A>G (p.Thr61Ala) http://identifiers.org/clinvar/134794 ^@ NM_170606.2(KMT2C):c.9931C>T (p.Leu3311Phe) http://identifiers.org/clinvar/134845 ^@ NM_000251.2(MSH2):c.2545C>G (p.Leu849Val) http://identifiers.org/clinvar/134998 ^@ NM_016734.2(PAX5):c.1110C>T (p.Tyr370=) http://identifiers.org/clinvar/135048 ^@ NM_000534.4(PMS1):c.2470C>A (p.Pro824Thr) http://identifiers.org/clinvar/135099 ^@ NM_000264.3(PTCH1):c.3376G>A (p.Val1126Ile) http://identifiers.org/clinvar/135150 ^@ NM_004260.3(RECQL4):c.3313G>A (p.Gly1105Ser) http://identifiers.org/clinvar/135231 ^@ NM_014159.6(SETD2):c.2794G>A (p.Val932Ile) http://identifiers.org/clinvar/135282 ^@ NM_016169.3(SUFU):c.1018G>T (p.Ala340Ser) http://identifiers.org/clinvar/135332 ^@ NM_001270508.1(TNFAIP3):c.374C>T (p.Ala125Val) http://identifiers.org/clinvar/135382 ^@ NM_000548.4(TSC2):c.3913_3916delCCGGinsTGGA (p.Pro1305_Gly1306delinsTrpSer) http://identifiers.org/clinvar/135433 ^@ NM_000553.4(WRN):c.145T>A (p.Phe49Ile) http://identifiers.org/clinvar/135483 ^@ NM_004628.4(XPC):c.1229A>G (p.Glu410Gly) http://identifiers.org/clinvar/135533 ^@ NM_000400.3(ERCC2):c.1119-194C>T http://identifiers.org/clinvar/187374 ^@ NM_001042492.2(NF1):c.8161-3C>T http://identifiers.org/clinvar/184533 ^@ NM_001042492.2(NF1):c.8499T>C (p.Asn2833=) http://identifiers.org/clinvar/187224 ^@ NM_002878.3(RAD51D):c.185C>G (p.Ser62Trp) http://identifiers.org/clinvar/185283 ^@ NM_007294.3(BRCA1):c.4836G>C (p.Gln1612His) http://identifiers.org/clinvar/185183 ^@ NM_007294.3(BRCA1):c.4505C>A (p.Pro1502Gln) http://identifiers.org/clinvar/184733 ^@ NM_007294.3(BRCA1):c.2121T>G (p.Gly707=) http://identifiers.org/clinvar/185133 ^@ NM_058216.2(RAD51C):c.939A>G (p.Leu313=) http://identifiers.org/clinvar/187074 ^@ NM_032043.2(BRIP1):c.2493-1G>C http://identifiers.org/clinvar/185433 ^@ NM_032043.2(BRIP1):c.1550C>T (p.Pro517Leu) http://identifiers.org/clinvar/185233 ^@ NM_007194.3(CHEK2):c.1494T>C (p.Leu498=) http://identifiers.org/clinvar/186573 ^@ NM_007194.3(CHEK2):c.920dupG (p.Glu308Argfs) http://identifiers.org/clinvar/187724 ^@ NM_007194.3(CHEK2):c.472G>A (p.Ala158Thr) http://identifiers.org/clinvar/187778 ^@ SMARCAD1, IVS1, G-C, +5 http://identifiers.org/clinvar/187850 ^@ NM_001029.3(RPS26):c.4-2A>T http://identifiers.org/clinvar/187907 ^@ NM_004409.4(DMPK):c.*224_*226[102] http://identifiers.org/clinvar/187957 ^@ NM_004409.4(DMPK):c.*224_*226[318] http://identifiers.org/clinvar/188007 ^@ NM_004409.4(DMPK):c.*224_*226[583] http://identifiers.org/clinvar/188159 ^@ NM_001128425.1(MUTYH):c.1430C>T (p.Thr477Met) http://identifiers.org/clinvar/188316 ^@ NM_000251.2(MSH2):c.2354A>G (p.His785Arg) http://identifiers.org/clinvar/188210 ^@ NM_000038.5(APC):c.2534G>A (p.Arg845His) http://identifiers.org/clinvar/188369 ^@ NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) http://identifiers.org/clinvar/188264 ^@ NM_000059.3(BRCA2):c.9554A>C (p.His3185Pro) http://identifiers.org/clinvar/189234 ^@ NM_033343.3(LHX4):c.452-2A>C http://identifiers.org/clinvar/189286 ^@ NM_014795.3(ZEB2):c.1687delA (p.Ile563Terfs) http://identifiers.org/clinvar/189345 ^@ NM_014314.3(DDX58):c.803G>T (p.Cys268Phe) http://identifiers.org/clinvar/189436 ^@ NM_000314.6(PTEN):c.-903_-882dup22 http://identifiers.org/clinvar/189498 ^@ NM_000314.6(PTEN):c.-796G>T http://identifiers.org/clinvar/189608 ^@ NM_005249.4(FOXG1):c.1200C>A (p.Tyr400Ter) http://identifiers.org/clinvar/189658 ^@ NM_004992.3(MECP2):c.1132_1202del71 (p.Ala378Profs) http://identifiers.org/clinvar/189708 ^@ NM_004992.3(MECP2):c.382_1189del808 (p.Gln128Argfs) http://identifiers.org/clinvar/189558 ^@ NM_003159.2(CDKL5):c.1432_1433insT (p.Arg478Metfs) http://identifiers.org/clinvar/189758 ^@ NM_004992.3:c.(?_-226)_(*1_?)dup http://identifiers.org/clinvar/189942 ^@ NM_001165963.1(SCN1A):c.4086C>G (p.Ser1362Arg) http://identifiers.org/clinvar/189992 ^@ NM_001165963.1(SCN1A):c.2903G>T (p.Cys968Phe) http://identifiers.org/clinvar/189892 ^@ NM_001165963.1(SCN1A):c.1738C>T (p.Arg580Ter) http://identifiers.org/clinvar/189842 ^@ NM_001165963.1(SCN1A):c.1118delT (p.Leu373Cysfs) http://identifiers.org/clinvar/190108 ^@ NM_173354.4(SIK1):c.1897C>T (p.Gln633Ter) http://identifiers.org/clinvar/190177 ^@ NM_000082.3(ERCC8):c.435T>C (p.Tyr145=) http://identifiers.org/clinvar/190228 ^@ NM_002485.4(NBN):c.842T>G (p.Leu281Ter) http://identifiers.org/clinvar/190309 ^@ NM_001987.4(ETV6):c.1252A>G (p.Arg418Gly) http://identifiers.org/clinvar/190361 ^@ NM_002055.4(GFAP):c.1154C>T (p.Ser385Phe) http://identifiers.org/clinvar/190449 ^@ NM_001199981.1(NDUFS1):c.650T>G (p.Val217Gly) http://identifiers.org/clinvar/227733 ^@ NM_006393.2(NEBL):c.2055+7C>A http://identifiers.org/clinvar/227001 ^@ NM_001142770.1(PCDH15):c.4522G>A (p.Val1508Met) http://identifiers.org/clinvar/226501 ^@ NM_022124.5(CDH23):c.9238G>A (p.Ala3080Thr) http://identifiers.org/clinvar/226901 ^@ NM_001277269.1(OTOG):c.5864C>T (p.Thr1955Met) http://identifiers.org/clinvar/227683 ^@ NM_000260.3(MYO7A):c.3864C>T (p.Ala1288=) http://identifiers.org/clinvar/227884 ^@ NM_002834.4(PTPN11):c.1380-4G>T http://identifiers.org/clinvar/226951 ^@ NM_173591.3(OTOGL):c.5042C>T (p.Pro1681Leu) http://identifiers.org/clinvar/227984 ^@ NM_001199107.1(TBC1D24):c.903G>A (p.Gln301=) http://identifiers.org/clinvar/227453 ^@ NM_001130089.1(KARS):c.1635+10G>A http://identifiers.org/clinvar/227633 ^@ NM_016239.3(MYO15A):c.1149C>T (p.Gly383=) http://identifiers.org/clinvar/226851 ^@ NM_001042492.2(NF1):c.4577+12C>T http://identifiers.org/clinvar/226801 ^@ NM_003803.3(MYOM1):c.139A>G (p.Ser47Gly) http://identifiers.org/clinvar/227583 ^@ NM_001145809.1(MYH14):c.975C>T (p.Ala325=) http://identifiers.org/clinvar/227253 ^@ NM_001146077.1(CLDN14):c.495C>T (p.Tyr165=) http://identifiers.org/clinvar/227052 ^@ NM_080860.3(RSPH1):c.742G>A (p.Gly248Arg) http://identifiers.org/clinvar/226751 ^@ NM_002473.5(MYH9):c.18C>T (p.Ala6=) http://identifiers.org/clinvar/226551 ^@ NM_000395.2(CSF2RB):c.2086C>T (p.Pro696Ser) http://identifiers.org/clinvar/228034 ^@ NM_001039141.2(TRIOBP):c.4783C>T (p.Arg1595Cys) http://identifiers.org/clinvar/227353 ^@ NM_000117.2(EMD):c.400-9C>T http://identifiers.org/clinvar/234852 ^@ NM_000530.7(MPZ):c.424G>T (p.Val142Phe) http://identifiers.org/clinvar/234902 ^@ NM_000059.3(BRCA2):c.9588delA (p.Asp3197Thrfs) http://identifiers.org/clinvar/233425 ^@ NM_004360.4(CDH1):c.1666G>C (p.Val556Leu) http://identifiers.org/clinvar/232524 ^@ NM_007194.3(CHEK2):c.1225G>A (p.Asp409Asn) http://identifiers.org/clinvar/230685 ^@ NM_007194.3(CHEK2):c.855C>G (p.Ile285Met) http://identifiers.org/clinvar/233827 ^@ NM_000465.3(BARD1):c.907G>A (p.Val303Ile) http://identifiers.org/clinvar/232775 ^@ NM_000465.3(BARD1):c.562C>T (p.Pro188Ser) http://identifiers.org/clinvar/232925 ^@ NM_000251.2(MSH2):c.928C>G (p.Leu310Val) http://identifiers.org/clinvar/233175 ^@ NM_000251.2(MSH2):c.947C>A (p.Ser316Tyr) http://identifiers.org/clinvar/232424 ^@ NM_000251.2(MSH2):c.1004C>G (p.Thr335Ser) http://identifiers.org/clinvar/232625 ^@ NM_000251.2(MSH2):c.1077-3C>T http://identifiers.org/clinvar/233375 ^@ NM_000251.2(MSH2):c.2111T>C (p.Ile704Thr) http://identifiers.org/clinvar/231285 ^@ NM_000179.2(MSH6):c.637A>C (p.Thr213Pro) http://identifiers.org/clinvar/232474 ^@ NM_000249.3(MLH1):c.1294C>T (p.Leu432Phe) http://identifiers.org/clinvar/231135 ^@ NM_000038.5(APC):c.278T>A (p.Leu93His) http://identifiers.org/clinvar/231435 ^@ NM_000038.5(APC):c.1334A>G (p.Gln445Arg) http://identifiers.org/clinvar/231235 ^@ NM_000038.5(APC):c.1609A>G (p.Ser537Gly) http://identifiers.org/clinvar/231335 ^@ NM_000038.5(APC):c.3182A>G (p.Lys1061Arg) http://identifiers.org/clinvar/263760 ^@ NM_001943.4(DSG2):c.873G>A (p.Thr291=) http://identifiers.org/clinvar/263560 ^@ NM_000071.2(CBS):c.1524C>T (p.Phe508=) http://identifiers.org/clinvar/263458 ^@ NM_002294.2(LAMP2):c.887T>G (p.Leu296Arg) http://identifiers.org/clinvar/264731 ^@ NM_001242896.1(DEPDC5):c.1393C>T (p.Gln465Ter) http://identifiers.org/clinvar/264886 ^@ NM_000059.3(BRCA2):c.9648+544G>A http://identifiers.org/clinvar/264836 ^@ NM_007294.3(BRCA1):c.594-458T>C http://identifiers.org/clinvar/264786 ^@ NM_007294.3(BRCA1):c.441+1382A>T http://identifiers.org/clinvar/265647 ^@ NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) http://identifiers.org/clinvar/265245 ^@ NM_000249.3(MLH1):c.1168G>T (p.Glu390Ter) http://identifiers.org/clinvar/265296 ^@ NM_198056.2(SCN5A):c.5285delT (p.Ile1762Thrfs) http://identifiers.org/clinvar/265496 ^@ NM_022455.4(NSD1):c.3548_3549delCT (p.Ser1183Terfs) http://identifiers.org/clinvar/265192 ^@ NM_000238.3(KCNH2):c.2145+1G>A http://identifiers.org/clinvar/265396 ^@ NM_000823.3(GHRHR):c.1089_1093delACTGG (p.Leu364Phefs) http://identifiers.org/clinvar/265697 ^@ NM_012330.3(KAT6B):c.257delG (p.Gly86Alafs) http://identifiers.org/clinvar/265597 ^@ NM_000359.2(TGM1):c.132G>A (p.Trp44Ter) http://identifiers.org/clinvar/265141 ^@ NM_000138.4(FBN1):c.2094delG (p.Cys699Valfs) http://identifiers.org/clinvar/265446 ^@ NM_000138.4(FBN1):c.1042C>T (p.Gln348Ter) http://identifiers.org/clinvar/265546 ^@ NM_024675.3(PALB2):c.544delA (p.Ile182Serfs) http://identifiers.org/clinvar/265346 ^@ NM_004380.2(CREBBP):c.5602C>T (p.Arg1868Trp) http://identifiers.org/clinvar/318539 ^@ NM_001083614.1(EARS2):c.*12T>G http://identifiers.org/clinvar/265786 ^@ NR_033294.1(SNORD118):n.57G>A http://identifiers.org/clinvar/265936 ^@ NM_174936.3(PCSK9):c.996+44A>G http://identifiers.org/clinvar/265886 ^@ NM_000384.2(APOB):c.3740A>G (p.Tyr1247Cys) http://identifiers.org/clinvar/265991 ^@ NM_000557.4(GDF5):c.1397G>A (p.Cys466Tyr) http://identifiers.org/clinvar/266046 ^@ NM_012224.2(NEK1):c.1021G>A (p.Ala341Thr) http://identifiers.org/clinvar/266118 ^@ NM_000942.4(PPIB):c.399_401dupCGG (p.Gly134_Pro135insGly) http://identifiers.org/clinvar/266618 ^@ NM_000059.3(BRCA2):c.1237delC (p.Leu413Tyrfs) http://identifiers.org/clinvar/266668 ^@ NM_000059.3(BRCA2):c.1913T>G (p.Leu638Ter) http://identifiers.org/clinvar/266718 ^@ NM_000059.3(BRCA2):c.2753delA (p.Asn918Thrfs) http://identifiers.org/clinvar/266518 ^@ NM_007294.3(BRCA1):c.5042delC (p.Thr1681Metfs) http://identifiers.org/clinvar/266468 ^@ NM_007294.3(BRCA1):c.4309delT (p.Ser1437Leufs) http://identifiers.org/clinvar/266418 ^@ NM_007294.3(BRCA1):c.3928dupA (p.Thr1310Asnfs) http://identifiers.org/clinvar/266368 ^@ NM_007294.3(BRCA1):c.3413dupG (p.Ser1139Lysfs) http://identifiers.org/clinvar/266318 ^@ NM_007294.3(BRCA1):c.2906_2908delATAinsCT (p.Asn969Thrfs) http://identifiers.org/clinvar/266268 ^@ NM_007294.3(BRCA1):c.2487_2488insCCCCT (p.Lys830Profs) http://identifiers.org/clinvar/266218 ^@ NM_007294.3(BRCA1):c.2105delT (p.Leu702Terfs) http://identifiers.org/clinvar/266168 ^@ NM_007294.3(BRCA1):c.1428_1437delTGTAACTGAA (p.His476Glnfs) http://identifiers.org/clinvar/266568 ^@ NM_007294.3(BRCA1):c.68delA (p.Glu23Glyfs) http://identifiers.org/clinvar/267428 ^@ NM_017780.3(CHD7):c.3674dupA (p.Asn1225Lysfs) http://identifiers.org/clinvar/267664 ^@ NM_000059.3(BRCA2):c.6901G>T (p.Glu2301Ter) http://identifiers.org/clinvar/267714 ^@ NM_000059.3(BRCA2):c.9117+2T>C http://identifiers.org/clinvar/267564 ^@ NM_007294.3(BRCA1):c.4987-?_5277+?del http://identifiers.org/clinvar/267614 ^@ NM_007294.3(BRCA1):c.671-?_4675+?del http://identifiers.org/clinvar/267514 ^@ NM_007294.3(BRCA1):c.213-15A>G http://identifiers.org/clinvar/267793 ^@ NM_006087.3(TUBB4A):c.1172G>A (p.R391H) http://identifiers.org/clinvar/267844 ^@ 46;XX;t(9;19)(q22.3;q13.1)dn http://identifiers.org/clinvar/267894 ^@ 46;XX;t(4;13)(q27;q21.2)dn http://identifiers.org/clinvar/267944 ^@ 46;XY;t(8;9)(p11.2;q13)dn http://identifiers.org/clinvar/267994 ^@ 46;XY;inv(22)(q11.2q13.3) http://identifiers.org/clinvar/268044 ^@ 46;XX;ins(2;9)(q24.3;p22.1p24.3)dn http://identifiers.org/clinvar/268109 ^@ NM_181789.2(GLDN):c.1435C>T (p.Arg479Ter) http://identifiers.org/clinvar/268173 ^@ NM_005993.4(TBCD):c.686T>G (p.Leu229Arg) http://identifiers.org/clinvar/279590 ^@ NM_000054.4(AVPR2):c.886T>C (p.Trp296Arg) http://identifiers.org/clinvar/280166 ^@ NM_002016.1(FLG):c.6109C>T (p.Arg2037Ter) http://identifiers.org/clinvar/290897 ^@ NM_000214.2(JAG1):c.2298T>C (p.Phe766=) http://identifiers.org/clinvar/290947 ^@ NM_004565.2(PEX14):c.85-6C>G http://identifiers.org/clinvar/290997 ^@ NM_001271620.2(ZNF423):c.3352G>A (p.Glu1118Lys) http://identifiers.org/clinvar/291047 ^@ NM_022356.3(P3H1):c.1120G>T (p.Glu374Ter) http://identifiers.org/clinvar/291097 ^@ NM_018849.2(ABCB4):c.1834G>A (p.Gly612Arg) http://identifiers.org/clinvar/291655 ^@ NM_015074.3(KIF1B):c.*3958A>G http://identifiers.org/clinvar/291605 ^@ NM_015074.3(KIF1B):c.*1118G>A http://identifiers.org/clinvar/291755 ^@ NM_007375.3(TARDBP):c.*1633delT http://identifiers.org/clinvar/291855 ^@ NM_013319.2(UBIAD1):c.600G>A (p.Met200Ile) http://identifiers.org/clinvar/291955 ^@ NM_002524.4(NRAS):c.*2630G>A http://identifiers.org/clinvar/291705 ^@ NM_013296.4(GPSM2):c.1356G>A (p.Gly452=) http://identifiers.org/clinvar/291805 ^@ NM_006610.3(MASP2):c.384G>A (p.Thr128=) http://identifiers.org/clinvar/291905 ^@ NM_013319.2(UBIAD1):c.*1719A>G http://identifiers.org/clinvar/292405 ^@ NM_014874.3(MFN2):c.*1488C>T http://identifiers.org/clinvar/293344 ^@ NM_003001.3(SDHC):c.*1314C>A http://identifiers.org/clinvar/293494 ^@ NM_005149.2(TBX19):c.*654T>G http://identifiers.org/clinvar/293694 ^@ NM_006894.5(FMO3):c.994A>G (p.Ser332Gly) http://identifiers.org/clinvar/293544 ^@ NM_000130.4(F5):c.*1820A>C http://identifiers.org/clinvar/293744 ^@ NM_000639.2(FASLG):c.*203C>T http://identifiers.org/clinvar/293594 ^@ NM_000130.4(F5):c.4835A>T (p.Asp1612Val) http://identifiers.org/clinvar/293644 ^@ NM_000130.4(F5):c.43G>A (p.Gly15Ser) http://identifiers.org/clinvar/293894 ^@ NM_002065.6(GLUL):c.*2074dupG http://identifiers.org/clinvar/293944 ^@ NM_002065.6(GLUL):c.825G>A (p.Glu275=) http://identifiers.org/clinvar/293994 ^@ NM_005562.2(LAMC2):c.509G>T (p.Arg170Leu) http://identifiers.org/clinvar/293844 ^@ NM_014625.3(NPHS2):c.*173G>A http://identifiers.org/clinvar/294044 ^@ NM_005562.2(LAMC2):c.*1066G>C http://identifiers.org/clinvar/294094 ^@ NM_031935.2(HMCN1):c.-13dupG http://identifiers.org/clinvar/294144 ^@ NM_031935.2(HMCN1):c.4385A>T (p.Glu1462Val) http://identifiers.org/clinvar/294194 ^@ NM_031935.2(HMCN1):c.8103T>C (p.Ile2701=) http://identifiers.org/clinvar/293394 ^@ NM_004431.4(EPHA2):c.*625G>A http://identifiers.org/clinvar/294344 ^@ NM_003748.3(ALDH4A1):c.*763T>C http://identifiers.org/clinvar/293444 ^@ NM_004431.4(EPHA2):c.583C>T (p.Arg195Cys) http://identifiers.org/clinvar/294444 ^@ NM_024529.4(CDC73):c.*2043A>T http://identifiers.org/clinvar/294644 ^@ NM_018136.4(ASPM):c.2509T>C (p.Ser837Pro) http://identifiers.org/clinvar/293794 ^@ NM_022089.3(ATP13A2):c.1244G>A (p.Arg415Gln) http://identifiers.org/clinvar/344525 ^@ NM_000996.2(RPL35A):c.-33G>A http://identifiers.org/clinvar/344575 ^@ NM_000461.4(THRB):c.*3572C>T http://identifiers.org/clinvar/336249 ^@ NM_001430.4(EPAS1):c.574-5C>G http://identifiers.org/clinvar/344075 ^@ NM_001041.3(SI):c.43G>T (p.Val15Phe) http://identifiers.org/clinvar/344425 ^@ NM_003722.4(TP63):c.*2155G>A http://identifiers.org/clinvar/337206 ^@ NM_000821.6(GGCX):c.*3071T>C http://identifiers.org/clinvar/337306 ^@ NM_198843.2(SFTPB):c.669C>T (p.Cys223=) http://identifiers.org/clinvar/337356 ^@ NM_022912.2(REEP1):c.*2261C>A http://identifiers.org/clinvar/337556 ^@ NM_014014.4(SNRNP200):c.1854T>C (p.His618=) http://identifiers.org/clinvar/337506 ^@ NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) http://identifiers.org/clinvar/337656 ^@ NM_001298.2(CNGA3):c.396-4G>A http://identifiers.org/clinvar/342336 ^@ NM_016247.3(IMPG2):c.3400A>G (p.Ser1134Gly) http://identifiers.org/clinvar/342386 ^@ NM_033084.4(FANCD2):c.*220A>G http://identifiers.org/clinvar/342436 ^@ NM_000551.3(VHL):c.*1452A>T http://identifiers.org/clinvar/342486 ^@ NM_000551.3(VHL):c.*2762T>C http://identifiers.org/clinvar/342586 ^@ NM_198196.2(CD96):c.*2092_*2093insGAA http://identifiers.org/clinvar/342736 ^@ NM_000187.3(HGD):c.1206A>G (p.Ser402=) http://identifiers.org/clinvar/342786 ^@ NM_001023570.3(IQCB1):c.-154T>G http://identifiers.org/clinvar/342836 ^@ NM_053025.3(MYLK):c.*1176delT http://identifiers.org/clinvar/342986 ^@ NM_000373.3(UMPS):c.*2703G>A http://identifiers.org/clinvar/343086 ^@ NM_025265.3(TSEN2):c.*292G>T http://identifiers.org/clinvar/347774 ^@ NM_005141.4(FGB):c.564T>C (p.Asn188=) http://identifiers.org/clinvar/348024 ^@ NM_001166108.1(PALLD):c.-8G>A http://identifiers.org/clinvar/348074 ^@ NM_001166108.1(PALLD):c.*2170_*2173delATCA http://identifiers.org/clinvar/348374 ^@ NM_000128.3(F11):c.499C>T (p.Leu167=) http://identifiers.org/clinvar/348424 ^@ NM_133330.2(NSD2):c.456T>G (p.Ser152=) http://identifiers.org/clinvar/353752 ^@ NM_002203.3(ITGA2):c.1594A>C (p.Ile532Leu) http://identifiers.org/clinvar/353852 ^@ NM_002203.3(ITGA2):c.*3409A>G http://identifiers.org/clinvar/362629 ^@ NM_006158.4(NEFL):c.*883G>C http://identifiers.org/clinvar/362679 ^@ NM_000742.3(CHRNA2):c.*936C>T http://identifiers.org/clinvar/358991 ^@ NM_005989.3(AKR1D1):c.*1288A>C http://identifiers.org/clinvar/362929 ^@ NM_003816.2(ADAM9):c.1085A>G (p.Asp362Gly) http://identifiers.org/clinvar/354791 ^@ NM_020381.3(PDSS2):c.-82G>A http://identifiers.org/clinvar/363379 ^@ NM_017813.4(IMPAD1):c.*1620A>G http://identifiers.org/clinvar/355092 ^@ NM_000493.3(COL10A1):c.1611C>T (p.Thr537=) http://identifiers.org/clinvar/355041 ^@ NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr) http://identifiers.org/clinvar/363529 ^@ NM_024596.4(MCPH1):c.1825+14C>G http://identifiers.org/clinvar/363679 ^@ NM_000503.5(EYA1):c.-508A>G http://identifiers.org/clinvar/355292 ^@ NM_000426.3(LAMA2):c.6788C>T (p.Thr2263Met) http://identifiers.org/clinvar/363929 ^@ NM_153704.5(TMEM67):c.2975G>T (p.Arg992Ile) http://identifiers.org/clinvar/355342 ^@ NM_006208.2(ENPP1):c.1540T>C (p.Leu514=) http://identifiers.org/clinvar/364029 ^@ NM_001001557.3(GDF6):c.*280T>C http://identifiers.org/clinvar/355392 ^@ NM_006208.2(ENPP1):c.*1499C>T http://identifiers.org/clinvar/355442 ^@ NM_172105.3(EYA4):c.182C>T (p.Thr61Ile) http://identifiers.org/clinvar/361080 ^@ NM_017890.4(VPS13B):c.9414T>A (p.Arg3138=) http://identifiers.org/clinvar/355492 ^@ NM_017651.4(AHI1):c.*110G>A http://identifiers.org/clinvar/355742 ^@ NM_203395.2(IYD):c.*2771A>G http://identifiers.org/clinvar/364329 ^@ NM_005502.3(ABCA1):c.*2705G>A http://identifiers.org/clinvar/355842 ^@ NM_033071.3(SYNE1):c.19268A>C (p.Lys6423Thr) http://identifiers.org/clinvar/355892 ^@ NM_033071.3(SYNE1):c.9981G>A (p.Thr3327=) http://identifiers.org/clinvar/355942 ^@ NM_033071.3(SYNE1):c.1283C>T (p.Ala428Val) http://identifiers.org/clinvar/355992 ^@ NM_004562.2(PRKN):c.*1694C>T http://identifiers.org/clinvar/360730 ^@ NM_000941.2(POR):c.*291G>A http://identifiers.org/clinvar/356042 ^@ NM_003730.4(RNASET2):c.-32A>G http://identifiers.org/clinvar/360880 ^@ NM_194456.1(KRIT1):c.*62A>C http://identifiers.org/clinvar/361030 ^@ NM_014251.2(SLC25A13):c.-107G>A http://identifiers.org/clinvar/365318 ^@ NM_015046.5(SETX):c.*1365G>T http://identifiers.org/clinvar/361380 ^@ NM_178857.5(RP1L1):c.1273A>C (p.Arg425=) http://identifiers.org/clinvar/361640 ^@ NM_014112.4(TRPS1):c.-296_-295dupCT http://identifiers.org/clinvar/366119 ^@ NM_144966.5(FREM1):c.4711G>A (p.Asp1571Asn) http://identifiers.org/clinvar/361890 ^@ NM_004519.3(KCNQ3):c.-136_-134dupGGG http://identifiers.org/clinvar/311469 ^@ NM_002010.2(FGF9):c.*2497delT http://identifiers.org/clinvar/311719 ^@ NM_004795.3(KL):c.*735G>A http://identifiers.org/clinvar/304110 ^@ NM_213599.2(ANO5):c.2478G>T (p.Trp826Cys) http://identifiers.org/clinvar/299082 ^@ NM_001609.3(ACADSB):c.1062T>C (p.Ala354=) http://identifiers.org/clinvar/304610 ^@ NM_021926.3(ALX4):c.*3988T>A http://identifiers.org/clinvar/313208 ^@ NM_020937.3(FANCM):c.2734A>G (p.Ile912Val) http://identifiers.org/clinvar/299332 ^@ NM_001081.3(CUBN):c.*560C>T http://identifiers.org/clinvar/304860 ^@ NM_002334.3(LRP4):c.4322A>G (p.Asn1441Ser) http://identifiers.org/clinvar/313508 ^@ NM_182914.2(SYNE2):c.4614A>G (p.Lys1538=) http://identifiers.org/clinvar/313558 ^@ NM_182914.2(SYNE2):c.11530A>G (p.Ile3844Val) http://identifiers.org/clinvar/304910 ^@ NM_002334.3(LRP4):c.-193C>G http://identifiers.org/clinvar/313658 ^@ NM_182914.2(SYNE2):c.20303A>C (p.Lys6768Thr) http://identifiers.org/clinvar/299432 ^@ NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) http://identifiers.org/clinvar/305010 ^@ NM_000062.2(SERPING1):c.-105C>A http://identifiers.org/clinvar/313708 ^@ NM_000347.5(SPTB):c.5554-3C>T http://identifiers.org/clinvar/313858 ^@ NM_015346.3(ZFYVE26):c.*819C>T http://identifiers.org/clinvar/299132 ^@ NM_001609.3(ACADSB):c.*2331C>G http://identifiers.org/clinvar/313958 ^@ NM_000021.3(PSEN1):c.*672G>A http://identifiers.org/clinvar/299182 ^@ NM_000274.3(OAT):c.-104T>C http://identifiers.org/clinvar/299232 ^@ NM_021980.4(OPTN):c.*938C>G http://identifiers.org/clinvar/299832 ^@ NM_021252.4(RAB18):c.*557G>A http://identifiers.org/clinvar/314358 ^@ NM_001040108.1(MLH3):c.*1452G>T http://identifiers.org/clinvar/314508 ^@ NM_013382.5(POMT2):c.*2165T>C http://identifiers.org/clinvar/299532 ^@ NM_001081.3(CUBN):c.963C>T (p.Pro321=) http://identifiers.org/clinvar/299582 ^@ NM_201590.2(CACNB2):c.*242C>T http://identifiers.org/clinvar/300182 ^@ NM_033056.3(PCDH15):c.3450C>A (p.Ile1150=) http://identifiers.org/clinvar/299632 ^@ NM_178161.2(PTF1A):c.*190C>T http://identifiers.org/clinvar/299682 ^@ NM_017433.4(MYO3A):c.*233C>T http://identifiers.org/clinvar/300382 ^@ NM_018344.5(SLC29A3):c.*603A>G http://identifiers.org/clinvar/315297 ^@ NM_139057.3(ADAMTS17):c.1302T>C (p.Asp434=) http://identifiers.org/clinvar/299932 ^@ NM_020975.4(RET):c.*1348G>A http://identifiers.org/clinvar/315547 ^@ NM_133647.1(SLC12A6):c.*3525C>T http://identifiers.org/clinvar/315647 ^@ NM_005159.4(ACTC1):c.*2090A>G http://identifiers.org/clinvar/315747 ^@ NM_152594.2(SPRED1):c.*594_*595delAT http://identifiers.org/clinvar/300132 ^@ NM_000242.2(MBL2):c.*1144A>G http://identifiers.org/clinvar/315797 ^@ NM_002225.3(IVD):c.173A>T (p.Lys58Met) http://identifiers.org/clinvar/300232 ^@ NM_000417.2(IL2RA):c.*1026G>A http://identifiers.org/clinvar/315147 ^@ NM_139057.3(ADAMTS17):c.*2354C>G http://identifiers.org/clinvar/311119 ^@ NM_001846.3(COL4A2):c.1095G>A (p.Pro365=) http://identifiers.org/clinvar/315197 ^@ NM_139057.3(ADAMTS17):c.*1078G>A http://identifiers.org/clinvar/315247 ^@ NM_139057.3(ADAMTS17):c.3285G>A (p.Ser1095=) http://identifiers.org/clinvar/329470 ^@ NM_212550.4(BLOC1S3):c.-7C>G http://identifiers.org/clinvar/318037 ^@ NM_001143979.1(NDE1):c.-152C>T http://identifiers.org/clinvar/311519 ^@ NM_014363.5(SACS):c.8341C>G (p.His2781Asp) http://identifiers.org/clinvar/318239 ^@ NM_004970.2(IGFALS):c.1425G>A (p.Ala475=) http://identifiers.org/clinvar/318689 ^@ NM_020705.2(TBC1D24):c.*3612T>C http://identifiers.org/clinvar/310464 ^@ NM_001131025.1(PEX5):c.*1259G>C http://identifiers.org/clinvar/330409 ^@ NM_000208.3(INSR):c.*1171C>T http://identifiers.org/clinvar/310564 ^@ NM_020661.3(AICDA):c.*958A>G http://identifiers.org/clinvar/318789 ^@ NM_173201.3(ATP2A1):c.*40C>T http://identifiers.org/clinvar/330459 ^@ NM_000208.3(INSR):c.2471C>T (p.Ala824Val) http://identifiers.org/clinvar/318839 ^@ NM_000034.3(ALDOA):c.1038C>T (p.Ser346=) http://identifiers.org/clinvar/318939 ^@ NM_000294.2(PHKG2):c.556+4_556+5dupAG http://identifiers.org/clinvar/337706 ^@ NM_018848.3(MKKS):c.-496T>G http://identifiers.org/clinvar/337806 ^@ NM_024411.4(PDYN):c.*1532C>T http://identifiers.org/clinvar/319089 ^@ NM_000243.2(MEFV):c.*818A>C http://identifiers.org/clinvar/337956 ^@ NM_014588.5(VSX1):c.*3C>A http://identifiers.org/clinvar/310919 ^@ NM_000123.3(ERCC5):c.1131T>A (p.Ala377=) http://identifiers.org/clinvar/338006 ^@ NM_001042472.2(ABHD12):c.-260G>A http://identifiers.org/clinvar/338256 ^@ NM_032034.3(SLC4A11):c.563G>A (p.Arg188Gln) http://identifiers.org/clinvar/311069 ^@ NM_001845.5(COL4A1):c.904-9C>T http://identifiers.org/clinvar/319879 ^@ NM_031885.3(BBS2):c.-161G>A http://identifiers.org/clinvar/311319 ^@ NM_021954.3(GJA3):c.*618G>A http://identifiers.org/clinvar/319979 ^@ NM_000078.2(CETP):c.466G>A (p.Asp156Asn) http://identifiers.org/clinvar/311369 ^@ NM_004004.5(GJB2):c.*168A>G http://identifiers.org/clinvar/311419 ^@ NM_002010.2(FGF9):c.-45C>T http://identifiers.org/clinvar/311569 ^@ NM_014363.5(SACS):c.954A>G (p.Leu318=) http://identifiers.org/clinvar/313008 ^@ NM_004086.2(COCH):c.*39G>T http://identifiers.org/clinvar/311619 ^@ NM_018451.4(CENPJ):c.2150C>T (p.Ser717Leu) http://identifiers.org/clinvar/320329 ^@ NM_001605.2(AARS):c.2421C>A (p.Ile807=) http://identifiers.org/clinvar/320429 ^@ NM_001361.4(DHODH):c.753C>A (p.Val251=) http://identifiers.org/clinvar/320479 ^@ NM_024306.4(FA2H):c.*506C>G http://identifiers.org/clinvar/313308 ^@ NM_015915.4(ATL1):c.*212T>A http://identifiers.org/clinvar/320579 ^@ NM_021615.4(CHST6):c.*1058G>T http://identifiers.org/clinvar/313358 ^@ NM_000161.2(GCH1):c.*1907A>G http://identifiers.org/clinvar/339446 ^@ NM_025219.2(DNAJC5):c.*4385A>T http://identifiers.org/clinvar/320979 ^@ NM_001127464.2(ZNF469):c.7919T>C (p.Met2640Thr) http://identifiers.org/clinvar/339646 ^@ NM_000484.3(APP):c.468+11A>G http://identifiers.org/clinvar/313758 ^@ NM_000347.5(SPTB):c.1795+9A>C http://identifiers.org/clinvar/339746 ^@ NM_000219.5(KCNE1):c.*1547dupG http://identifiers.org/clinvar/339796 ^@ NM_001754.4(RUNX1):c.*4140C>T http://identifiers.org/clinvar/339846 ^@ NM_001754.4(RUNX1):c.*1430C>A http://identifiers.org/clinvar/340046 ^@ NM_024022.2(TMPRSS3):c.*477G>A http://identifiers.org/clinvar/314058 ^@ NM_031427.3(DNAL1):c.*2440G>A http://identifiers.org/clinvar/340196 ^@ NM_130445.3(COL18A1):c.604G>A (p.Gly202Arg) http://identifiers.org/clinvar/314208 ^@ NM_182894.2(VSX2):c.*54G>A http://identifiers.org/clinvar/321743 ^@ NM_002470.3(MYH3):c.3137G>A (p.Arg1046Gln) http://identifiers.org/clinvar/340396 ^@ NM_001849.3(COL6A2):c.*105C>T http://identifiers.org/clinvar/328270 ^@ NM_000528.3(MAN2B1):c.1398G>A (p.Ala466=) http://identifiers.org/clinvar/328320 ^@ NM_006563.4(KLF1):c.325C>T (p.Pro109Ser) http://identifiers.org/clinvar/326731 ^@ NM_015559.2(SETBP1):c.921G>T (p.Glu307Asp) http://identifiers.org/clinvar/326981 ^@ NM_001080467.2(MYO5B):c.*866C>A http://identifiers.org/clinvar/328670 ^@ NM_001031726.3(C19orf12):c.*3227_*3229delTTT http://identifiers.org/clinvar/328770 ^@ NM_014270.4(SLC7A9):c.-39C>T http://identifiers.org/clinvar/328920 ^@ NM_001083961.1(WDR62):c.2972A>T (p.Asp991Val) http://identifiers.org/clinvar/327181 ^@ NM_005359.5(SMAD4):c.*5535_*5540delACGCGC http://identifiers.org/clinvar/328970 ^@ NM_032753.3(RAX2):c.83G>A (p.Arg28Gln) http://identifiers.org/clinvar/329020 ^@ NM_000540.2(RYR1):c.4213C>A (p.Pro1405Thr) http://identifiers.org/clinvar/327331 ^@ NM_000140.3(FECH):c.*4796_*4798delTTA http://identifiers.org/clinvar/327531 ^@ NM_013435.2(RAX):c.835C>G (p.Pro279Ala) http://identifiers.org/clinvar/329320 ^@ NM_003573.2(LTBP4):c.2829C>T (p.Asn943=) http://identifiers.org/clinvar/329370 ^@ NM_000709.3(BCKDHA):c.*20C>A http://identifiers.org/clinvar/329420 ^@ NM_152296.4(ATP1A3):c.1192+6C>T http://identifiers.org/clinvar/328370 ^@ NM_000435.2(NOTCH3):c.*23T>A http://identifiers.org/clinvar/328520 ^@ NM_000215.3(JAK3):c.252G>A (p.Pro84=) http://identifiers.org/clinvar/328870 ^@ NM_004646.3(NPHS1):c.1598T>C (p.Leu533Pro) http://identifiers.org/clinvar/337906 ^@ NM_198994.2(TGM6):c.477C>T (p.Ser159=) http://identifiers.org/clinvar/338056 ^@ NM_033118.3(MYLK2):c.*563A>G http://identifiers.org/clinvar/329270 ^@ NM_181882.2(PRX):c.2017A>G (p.Met673Val) http://identifiers.org/clinvar/339696 ^@ NM_000628.4(IL10RB):c.*17A>G http://identifiers.org/clinvar/339896 ^@ NM_144492.2(CLDN14):c.-179G>A http://identifiers.org/clinvar/337756 ^@ NM_000214.2(JAG1):c.1344C>T (p.Asp448=) http://identifiers.org/clinvar/340246 ^@ NM_130445.3(COL18A1):c.2434-8C>T http://identifiers.org/clinvar/338106 ^@ NM_015338.5(ASXL1):c.3212C>T (p.Ala1071Val) http://identifiers.org/clinvar/340346 ^@ NM_001848.2(COL6A1):c.*575A>G http://identifiers.org/clinvar/338356 ^@ NM_015474.3(SAMHD1):c.-166G>T http://identifiers.org/clinvar/338506 ^@ NM_000022.3(ADA):c.715G>A (p.Gly239Ser) http://identifiers.org/clinvar/340697 ^@ NM_014339.6(IL17RA):c.*3938G>A http://identifiers.org/clinvar/340847 ^@ NM_004782.3(SNAP29):c.*517_*520delACAC http://identifiers.org/clinvar/339196 ^@ NM_017671.4(FERMT1):c.*697G>A http://identifiers.org/clinvar/339296 ^@ NM_001853.3(COL9A3):c.1561A>G (p.Ser521Gly) http://identifiers.org/clinvar/339346 ^@ NM_025219.2(DNAJC5):c.-186C>T http://identifiers.org/clinvar/339396 ^@ NM_025219.2(DNAJC5):c.*1604C>T http://identifiers.org/clinvar/339496 ^@ NM_015192.3(PLCB1):c.456G>A (p.Leu152=) http://identifiers.org/clinvar/341886 ^@ NM_000262.2(NAGA):c.*1814C>T http://identifiers.org/clinvar/392526 ^@ NM_017617.4(NOTCH1):c.4586+11G>C http://identifiers.org/clinvar/389087 ^@ NM_020987.4(ANK3):c.12098C>T (p.Ser4033Leu) http://identifiers.org/clinvar/392476 ^@ NM_020987.4(ANK3):c.2746T>A (p.Ser916Thr) http://identifiers.org/clinvar/392026 ^@ NM_032634.3(PIGO):c.2627G>A (p.Gly876Glu) http://identifiers.org/clinvar/380402 ^@ NM_000051.3(ATM):c.3746+17C>T http://identifiers.org/clinvar/383647 ^@ NM_000141.4(FGFR2):c.1986+7C>T http://identifiers.org/clinvar/392426 ^@ NM_003383.4(VLDLR):c.39C>T (p.Leu13=) http://identifiers.org/clinvar/379700 ^@ NM_001197104.1(KMT2A):c.8570T>A (p.Leu2857Gln) http://identifiers.org/clinvar/392126 ^@ NM_001164277.1(SLC37A4):c.-183C>T http://identifiers.org/clinvar/389437 ^@ NM_004281.3(BAG3):c.460G>A (p.Val154Met) http://identifiers.org/clinvar/387598 ^@ NM_024649.4(BBS1):c.1147C>T (p.Arg383Trp) http://identifiers.org/clinvar/392276 ^@ NM_000445.4(PLEC):c.1884C>T (p.Tyr628=) http://identifiers.org/clinvar/380001 ^@ NM_024678.5(NARS2):c.414T>C (p.Tyr138=) http://identifiers.org/clinvar/381894 ^@ NM_000051.3(ATM):c.2377-18T>C http://identifiers.org/clinvar/377701 ^@ NM_018941.3(CLN8):c.843G>A (p.Leu281=) http://identifiers.org/clinvar/387898 ^@ NM_000051.3(ATM):c.8763G>T (p.Thr2921=) http://identifiers.org/clinvar/389937 ^@ NM_000017.3(ACADS):c.461T>G (p.Leu154Arg) http://identifiers.org/clinvar/389137 ^@ NM_002335.3(LRP5):c.303C>T (p.Asn101=) http://identifiers.org/clinvar/377601 ^@ NM_000719.6(CACNA1C):c.135C>G (p.Thr45=) http://identifiers.org/clinvar/392176 ^@ NM_000257.3(MYH7):c.4250C>T (p.Thr1417Ile) http://identifiers.org/clinvar/383948 ^@ NM_032634.3(PIGO):c.714C>G (p.Gly238=) http://identifiers.org/clinvar/389737 ^@ NM_001698.2(AUH):c.262+14G>A http://identifiers.org/clinvar/380502 ^@ NM_005050.3(ABCD4):c.858C>T (p.Tyr286=) http://identifiers.org/clinvar/390087 ^@ NM_024537.3(CARS2):c.930C>T (p.His310=) http://identifiers.org/clinvar/384048 ^@ NM_032578.3(MYPN):c.312G>A (p.Gln104=) http://identifiers.org/clinvar/387798 ^@ NM_025114.3(CEP290):c.3273G>A (p.Glu1091=) http://identifiers.org/clinvar/382094 ^@ NM_018838.4(NDUFA12):c.257+8A>G http://identifiers.org/clinvar/383798 ^@ NM_000314.6(PTEN):c.1027-12T>G http://identifiers.org/clinvar/387748 ^@ NM_000053.3(ATP7B):c.1947-4C>T http://identifiers.org/clinvar/377501 ^@ NM_015915.4(ATL1):c.687C>T (p.Ala229=) http://identifiers.org/clinvar/389287 ^@ NM_024675.3(PALB2):c.249C>T (p.His83=) http://identifiers.org/clinvar/388937 ^@ NM_005682.6(ADGRG1):c.621-20C>T http://identifiers.org/clinvar/378203 ^@ NM_002474.2(MYH11):c.3309C>T (p.Ile1103=) http://identifiers.org/clinvar/389837 ^@ NM_000833.4(GRIN2A):c.2595+16G>A http://identifiers.org/clinvar/8 ^@ NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del http://identifiers.org/clinvar/75 ^@ NM_000374.4(UROD):c.912C>A (p.Asn304Lys) http://identifiers.org/clinvar/331 ^@ FAM134B, IVS7DS, T-C, +2 http://identifiers.org/clinvar/555 ^@ NM_000140.3(FECH):c.314+2T>G http://identifiers.org/clinvar/605 ^@ NM_000277.1(PAH):c.117C>G (p.Phe39Leu) http://identifiers.org/clinvar/759 ^@ NM_031466.7(TRAPPC9):c.1708C>T (p.Arg570Ter) http://identifiers.org/clinvar/768 ^@ NM_015702.2(MMADHC):c.419dupA (p.Tyr140Terfs) http://identifiers.org/clinvar/818 ^@ APC, 2-BP INS, CODON 1924 http://identifiers.org/clinvar/869 ^@ NM_001127628.1(FBP1):c.530C>A (p.Ala177Asp) http://identifiers.org/clinvar/2750 ^@ NM_004183.3(BEST1):c.418C>G (p.Leu140Val) http://identifiers.org/clinvar/2796 ^@ NM_032520.4(GNPTG):c.640_667del28 (p.Glu214Lysfs) http://identifiers.org/clinvar/2840 ^@ NM_000019.3(ACAT1):c.814C>T (p.Gln272Ter) http://identifiers.org/clinvar/2887 ^@ NM_032531.3(KIRREL3):c.1007G>A (p.Arg336Gln) http://identifiers.org/clinvar/2931 ^@ NM_013246.2(CLCF1):c.590G>T (p.Arg197Leu) http://identifiers.org/clinvar/2977 ^@ NM_000271.4(NPC1):c.3662delT (p.Phe1221Serfs) http://identifiers.org/clinvar/3021 ^@ NM_000051.3(ATM):c.5762_5763insNG_009830.1:g.91138_91274 http://identifiers.org/clinvar/3071 ^@ NM_000487.5(ARSA):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/3119 ^@ NM_000218.2(KCNQ1):c.817C>T (p.Leu273Phe) http://identifiers.org/clinvar/3170 ^@ NM_000187.3(HGD):c.16-1G>A http://identifiers.org/clinvar/3216 ^@ NM_001079802.1(FKTN):c.919C>T (p.Arg307Ter) http://identifiers.org/clinvar/3265 ^@ NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) http://identifiers.org/clinvar/3355 ^@ NM_006445.3(PRPF8):c.6926A>G (p.His2309Arg) http://identifiers.org/clinvar/10180 ^@ NM_000132.3(F8):c.670G>T (p.Gly224Trp) http://identifiers.org/clinvar/10225 ^@ NM_000132.3(F8):c.1649G>A (p.Arg550His) http://identifiers.org/clinvar/10270 ^@ NM_000132.3(F8):c.5305G>A (p.Gly1769Arg) http://identifiers.org/clinvar/10315 ^@ NM_000132.3(F8):c.6506G>A (p.Arg2169His) http://identifiers.org/clinvar/100055 ^@ NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) http://identifiers.org/clinvar/10410 ^@ NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) http://identifiers.org/clinvar/13468 ^@ NM_000371.3(TTR):c.349G>T (p.Ala117Ser) http://identifiers.org/clinvar/13518 ^@ NM_000297.3(PKD2):c.2224C>T (p.Arg742Ter) http://identifiers.org/clinvar/37507 ^@ NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) http://identifiers.org/clinvar/37564 ^@ NM_007294.3(BRCA1):c.4083G>A (p.Met1361Ile) http://identifiers.org/clinvar/37615 ^@ NM_007294.3(BRCA1):c.4955T>C (p.Met1652Thr) http://identifiers.org/clinvar/37671 ^@ NM_007294.3(BRCA1):c.543A>G (p.Glu181=) http://identifiers.org/clinvar/51143 ^@ NM_000059.3(BRCA2):c.1558T>G (p.Phe520Val) http://identifiers.org/clinvar/51194 ^@ NM_000059.3(BRCA2):c.1789G>T (p.Glu597Ter) http://identifiers.org/clinvar/51247 ^@ NM_000059.3(BRCA2):c.2125C>G (p.Leu709Val) http://identifiers.org/clinvar/51297 ^@ NM_000059.3(BRCA2):c.2503C>T (p.Pro835Ser) http://identifiers.org/clinvar/51348 ^@ NM_000059.3(BRCA2):c.2798delC (p.Thr933Lysfs) http://identifiers.org/clinvar/51398 ^@ NM_000059.3(BRCA2):c.3092T>C (p.Phe1031Ser) http://identifiers.org/clinvar/51450 ^@ NM_000059.3(BRCA2):c.3326C>T (p.Ala1109Val) http://identifiers.org/clinvar/51501 ^@ NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro) http://identifiers.org/clinvar/52921 ^@ NM_000059.3(BRCA2):c.9936A>G (p.Ile3312Met) http://identifiers.org/clinvar/52971 ^@ NM_000218.2(KCNQ1):c.1189delC (p.Arg397Glyfs) http://identifiers.org/clinvar/53021 ^@ NM_000218.2(KCNQ1):c.1855T>A (p.Leu619Met) http://identifiers.org/clinvar/53071 ^@ NM_000218.2(KCNQ1):c.572T>C (p.Leu191Pro) http://identifiers.org/clinvar/53122 ^@ NM_000218.2(KCNQ1):c.910T>C (p.Trp304Arg) http://identifiers.org/clinvar/53174 ^@ NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) http://identifiers.org/clinvar/53225 ^@ NM_000492.3(CFTR):c.1297_1303delTTCTCAC (p.Ser434Leufs) http://identifiers.org/clinvar/53277 ^@ NM_000492.3(CFTR):c.1517T>G (p.Ile506Ser) http://identifiers.org/clinvar/53328 ^@ NM_000492.3(CFTR):c.1676C>A (p.Ala559Glu) http://identifiers.org/clinvar/53378 ^@ NM_000492.3(CFTR):c.1766+3A>C http://identifiers.org/clinvar/53429 ^@ NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) http://identifiers.org/clinvar/53483 ^@ NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter) http://identifiers.org/clinvar/53533 ^@ NM_000492.3(CFTR):c.263T>C (p.Leu88Ser) http://identifiers.org/clinvar/53583 ^@ NM_000492.3(CFTR):c.2875delG (p.Ala959Hisfs) http://identifiers.org/clinvar/53634 ^@ NM_000492.3(CFTR):c.3038C>T (p.Pro1013Leu) http://identifiers.org/clinvar/53686 ^@ NM_000492.3(CFTR):c.3209G>C (p.Arg1070Pro) http://identifiers.org/clinvar/53736 ^@ NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) http://identifiers.org/clinvar/53787 ^@ NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) http://identifiers.org/clinvar/53841 ^@ NM_000492.3(CFTR):c.3889dupT (p.Ser1297Phefs) http://identifiers.org/clinvar/53891 ^@ NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) http://identifiers.org/clinvar/53942 ^@ NM_000492.3(CFTR):c.434T>A (p.Leu145His) http://identifiers.org/clinvar/53992 ^@ NM_000492.3(CFTR):c.533G>A (p.Gly178Glu) http://identifiers.org/clinvar/54042 ^@ NM_000492.3(CFTR):c.709C>G (p.Gln237Glu) http://identifiers.org/clinvar/54094 ^@ NM_000492.3(CFTR):c.960A>T (p.Leu320Phe) http://identifiers.org/clinvar/54144 ^@ NM_007294.3(BRCA1):c.1138C>T (p.Gln380Ter) http://identifiers.org/clinvar/54194 ^@ NM_007294.3(BRCA1):c.130delT (p.Cys44Alafs) http://identifiers.org/clinvar/54244 ^@ NM_007294.3(BRCA1):c.1405delG (p.Ala469Glnfs) http://identifiers.org/clinvar/54295 ^@ NM_007294.3(BRCA1):c.1568T>G (p.Leu523Trp) http://identifiers.org/clinvar/54345 ^@ NM_007294.3(BRCA1):c.1772T>C (p.Ile591Thr) http://identifiers.org/clinvar/54396 ^@ NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) http://identifiers.org/clinvar/54935 ^@ NM_007294.3(BRCA1):c.3608G>A (p.Arg1203Gln) http://identifiers.org/clinvar/54987 ^@ NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) http://identifiers.org/clinvar/55038 ^@ NM_007294.3(BRCA1):c.3891_3893delTTC (p.Ser1298del) http://identifiers.org/clinvar/55089 ^@ NM_007294.3(BRCA1):c.4054G>A (p.Glu1352Lys) http://identifiers.org/clinvar/55140 ^@ NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr) http://identifiers.org/clinvar/55191 ^@ NM_007294.3(BRCA1):c.4399C>T (p.Gln1467Ter) http://identifiers.org/clinvar/55241 ^@ NM_007294.3(BRCA1):c.4621G>T (p.Glu1541Ter) http://identifiers.org/clinvar/55292 ^@ NM_007294.3(BRCA1):c.4811A>G (p.Gln1604Arg) http://identifiers.org/clinvar/55342 ^@ NM_007294.3(BRCA1):c.4986+4A>T http://identifiers.org/clinvar/55392 ^@ NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg) http://identifiers.org/clinvar/55442 ^@ NM_007294.3(BRCA1):c.5173G>T (p.Glu1725Ter) http://identifiers.org/clinvar/55494 ^@ NM_007294.3(BRCA1):c.5277+1G>C http://identifiers.org/clinvar/55545 ^@ NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) http://identifiers.org/clinvar/55595 ^@ NM_007294.3(BRCA1):c.548delG (p.Gly183Aspfs) http://identifiers.org/clinvar/55645 ^@ NM_007294.3(BRCA1):c.601G>A (p.Asp201Asn) http://identifiers.org/clinvar/55698 ^@ NM_007294.3(BRCA1):c.786G>A (p.Gln262=) http://identifiers.org/clinvar/55749 ^@ NM_007294.3(BRCA1):c.904delG (p.Ala302Leufs) http://identifiers.org/clinvar/55817 ^@ NM_001278689.1(EOGT):c.1074delA (p.Gly359Aspfs) http://identifiers.org/clinvar/55883 ^@ NM_001258221.1(KCTD1):c.92C>T (p.Pro31Leu) http://identifiers.org/clinvar/55957 ^@ NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) http://identifiers.org/clinvar/56007 ^@ NM_000111.2(SLC26A3):c.616T>C (p.Ser206Pro) http://identifiers.org/clinvar/56060 ^@ NM_000170.2(GLDC):c.2153_2155delATCinsTCCTGGTTTA (p.His718Leufs) http://identifiers.org/clinvar/56111 ^@ NM_000274.3(OAT):c.1031delA (p.Asn344Thrfs) http://identifiers.org/clinvar/56166 ^@ NM_000224.2(KRT18):c.282C>T (p.Tyr94=) http://identifiers.org/clinvar/56216 ^@ NM_000310.3(PPT1):c.774dupA (p.Gln259Thrfs) http://identifiers.org/clinvar/56267 ^@ NM_001042432.1(CLN3):c.379delC (p.Arg127Glyfs) http://identifiers.org/clinvar/56319 ^@ NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter) http://identifiers.org/clinvar/56369 ^@ NM_001126105.2(SLC7A7):c.499+1G>A http://identifiers.org/clinvar/56421 ^@ NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) http://identifiers.org/clinvar/57042 ^@ GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 http://identifiers.org/clinvar/57095 ^@ GRCh38/hg38 4p16.2(chr4:4810396-5212384)x3 http://identifiers.org/clinvar/101228 ^@ NP_000081.1:p.Gly762_Pro1085del http://identifiers.org/clinvar/102695 ^@ NM_000277.1(PAH):c.479A>C (p.Gln160Pro) http://identifiers.org/clinvar/102745 ^@ NM_000277.1(PAH):c.590_612del23 (p.Leu197Terfs) http://identifiers.org/clinvar/102796 ^@ NM_000277.1(PAH):c.712A>C (p.Thr238Pro) http://identifiers.org/clinvar/102846 ^@ NM_000277.1(PAH):c.809G>A (p.Arg270Lys) http://identifiers.org/clinvar/102898 ^@ NM_000277.1(PAH):c.929C>A (p.Ser310Tyr) http://identifiers.org/clinvar/102956 ^@ NM_000246.3(CIITA):c.-415C>T http://identifiers.org/clinvar/103006 ^@ NM_000246.3(CIITA):c.3318-176C>T http://identifiers.org/clinvar/103056 ^@ NM_001174081.2(NLRP2):c.2202-194G>A http://identifiers.org/clinvar/103106 ^@ NM_006092.2(NOD1):c.2537+81G>A http://identifiers.org/clinvar/103156 ^@ NM_032206.4(NLRC5):c.2009A>C (p.Asp670Ala) http://identifiers.org/clinvar/103206 ^@ NM_032206.4(NLRC5):c.5238-50C>T http://identifiers.org/clinvar/103256 ^@ NM_138329.2(NLRP6):c.786G>C (p.Ala262=) http://identifiers.org/clinvar/103306 ^@ NM_176810.2(NLRP13):c.2111+89G>T http://identifiers.org/clinvar/103356 ^@ NM_178844.3(NLRC3):c.1581C>T (p.Ala527=) http://identifiers.org/clinvar/111230 ^@ NM_005534.3(IFNGR2):c.*352C>T http://identifiers.org/clinvar/120090 ^@ NM_000446.5(PON1):c.325G>T (p.Val109Leu) http://identifiers.org/clinvar/120242 ^@ NM_017637.5(BNC2):c.519C>T (p.Ser173=) http://identifiers.org/clinvar/120292 ^@ NM_000277.1(PAH):c.912+2T>C http://identifiers.org/clinvar/125449 ^@ NM_020207.4(ERCC6L2):c.1963C>T (p.Arg655Ter) http://identifiers.org/clinvar/125517 ^@ NM_007294.3(BRCA1):c.80+1G>T http://identifiers.org/clinvar/125601 ^@ NM_007294.3(BRCA1):c.3044dupG (p.Asn1016Lysfs) http://identifiers.org/clinvar/125672 ^@ NM_007294.3(BRCA1):c.4097-10G>A http://identifiers.org/clinvar/125733 ^@ NM_007294.3(BRCA1):c.4891dupA (p.Ser1631Lysfs) http://identifiers.org/clinvar/125810 ^@ U14680.1:n.5396+1_del6 http://identifiers.org/clinvar/125872 ^@ U14680.1:n.5711+42G>A http://identifiers.org/clinvar/125935 ^@ NM_000059.3(BRCA2):c.1125C>T (p.Pro375=) http://identifiers.org/clinvar/125999 ^@ NM_000059.3(BRCA2):c.2930_2940delTGAATATAGAT (p.Leu977Terfs) http://identifiers.org/clinvar/126066 ^@ NM_000059.3(BRCA2):c.5378A>G (p.Asn1793Ser) http://identifiers.org/clinvar/126137 ^@ NM_000059.3(BRCA2):c.7469dupT (p.Gln2491Thrfs) http://identifiers.org/clinvar/159949 ^@ NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) http://identifiers.org/clinvar/160372 ^@ NM_003051.3(SLC16A1):c.490dupC (p.Leu164Profs) http://identifiers.org/clinvar/160824 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 http://identifiers.org/clinvar/160876 ^@ GRCh38/hg38 7q21.13(chr7:89030468-89447599)x1 http://identifiers.org/clinvar/160928 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 http://identifiers.org/clinvar/160979 ^@ GRCh38/hg38 2q37.3(chr2:241988449-242126245)x1 http://identifiers.org/clinvar/161030 ^@ GRCh38/hg38 3p26.3(chr3:868334-1341994)x1 http://identifiers.org/clinvar/161080 ^@ GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1 http://identifiers.org/clinvar/161130 ^@ NM_152296.4(ATP1A3):c.1112T>C (p.Leu371Pro) http://identifiers.org/clinvar/161212 ^@ NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile) http://identifiers.org/clinvar/161312 ^@ NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) http://identifiers.org/clinvar/161262 ^@ NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) http://identifiers.org/clinvar/161362 ^@ NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser) http://identifiers.org/clinvar/161419 ^@ NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) http://identifiers.org/clinvar/161581 ^@ NM_001496.3(GFRA3):c.1135C>A (p.Pro379Thr) http://identifiers.org/clinvar/161631 ^@ NM_005353.2(ITGAD):c.2836A>C (p.Lys946Gln) http://identifiers.org/clinvar/161531 ^@ NM_001143939.1(ZNF534):c.13C>A (p.Gln5Lys) http://identifiers.org/clinvar/161481 ^@ NM_001004699.2(OR2Z1):c.878G>T (p.Arg293Met) http://identifiers.org/clinvar/179839 ^@ NM_206933.2(USH2A):c.6141G>A (p.Leu2047=) http://identifiers.org/clinvar/165104 ^@ NM_001035.2(RYR2):c.6689-12T>C http://identifiers.org/clinvar/179889 ^@ NM_005572.3(LMNA):c.837G>A (p.Glu279=) http://identifiers.org/clinvar/179939 ^@ NM_001001430.2(TNNT2):c.836G>A (p.Gly279Glu) http://identifiers.org/clinvar/179439 ^@ NM_206933.2(USH2A):c.14248C>T (p.Gln4750Ter) http://identifiers.org/clinvar/178181 ^@ NM_133378.4(TTN):c.77261G>A (p.Arg25754His) http://identifiers.org/clinvar/165813 ^@ NM_133378.4(TTN):c.72997A>G (p.Ile24333Val) http://identifiers.org/clinvar/166480 ^@ NM_206933.2(USH2A):c.6628C>G (p.Pro2210Ala) http://identifiers.org/clinvar/165915 ^@ NM_001256850.1(TTN):c.57352G>A (p.Glu19118Lys) http://identifiers.org/clinvar/178231 ^@ NM_133378.4(TTN):c.23196G>A (p.Leu7732=) http://identifiers.org/clinvar/166243 ^@ NM_133432.3(TTN):c.11042C>A (p.Thr3681Asn) http://identifiers.org/clinvar/166113 ^@ NM_001256850.1(TTN):c.31144+1G>A http://identifiers.org/clinvar/179589 ^@ NM_133378.4(TTN):c.13163T>C (p.Ile4388Thr) http://identifiers.org/clinvar/166293 ^@ NM_001256850.1(TTN):c.9884C>T (p.Thr3295Met) http://identifiers.org/clinvar/166353 ^@ NM_133378.4(TTN):c.1246-5T>C http://identifiers.org/clinvar/179539 ^@ NM_194248.2(OTOF):c.2818C>T (p.Gln940Ter) http://identifiers.org/clinvar/164870 ^@ NM_194248.2(OTOF):c.1580-6C>T http://identifiers.org/clinvar/179739 ^@ NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) http://identifiers.org/clinvar/179339 ^@ NM_001369.2(DNAH5):c.9449delG (p.Gly3150Alafs) http://identifiers.org/clinvar/164978 ^@ NM_002700.2(POU4F3):c.103T>C (p.Cys35Arg) http://identifiers.org/clinvar/166569 ^@ NM_006005.3(WFS1):c.225C>T (p.Asp75=) http://identifiers.org/clinvar/165987 ^@ NM_133378.4(TTN):c.45854C>G (p.Pro15285Arg) http://identifiers.org/clinvar/178381 ^@ NM_001199799.1(ILDR1):c.1326C>A (p.Arg442=) http://identifiers.org/clinvar/179489 ^@ NM_024334.2(TMEM43):c.428C>T (p.Thr143Met) http://identifiers.org/clinvar/178131 ^@ NM_198056.2(SCN5A):c.3249C>T (p.Ser1083=) http://identifiers.org/clinvar/178031 ^@ NM_004415.3(DSP):c.5523A>C (p.Ser1841=) http://identifiers.org/clinvar/165253 ^@ NM_000441.1(SLC26A4):c.1470C>T (p.Ile490=) http://identifiers.org/clinvar/180089 ^@ NM_016203.3(PRKAG2):c.826A>G (p.Thr276Ala) http://identifiers.org/clinvar/198447 ^@ NM_001039141.2(TRIOBP):c.1193_1195delAAC (p.Gln398del) http://identifiers.org/clinvar/198500 ^@ NM_003896.3(ST3GAL5):c.1247G>T (p.Arg416Leu) http://identifiers.org/clinvar/199063 ^@ NM_006920.4(SCN1A):c.1194G>A (p.Thr398=) http://identifiers.org/clinvar/199117 ^@ NM_006017.2(PROM1):c.1030A>G (p.Asn344Asp) http://identifiers.org/clinvar/199168 ^@ NM_001037633.1(SIL1):c.984C>T (p.Leu328=) http://identifiers.org/clinvar/199224 ^@ NM_001271208.1(NEB):c.18783G>A (p.Gln6261=) http://identifiers.org/clinvar/201217 ^@ NM_001035.2(RYR2):c.1561G>A (p.Glu521Lys) http://identifiers.org/clinvar/201164 ^@ NM_001035.2(RYR2):c.2482C>T (p.Pro828Ser) http://identifiers.org/clinvar/201275 ^@ NM_001035.2(RYR2):c.7155G>T (p.Gly2385=) http://identifiers.org/clinvar/201388 ^@ NM_001035.2(RYR2):c.8205C>A (p.Asp2735Glu) http://identifiers.org/clinvar/201329 ^@ NM_001035.2(RYR2):c.12301C>T (p.Leu4101Phe) http://identifiers.org/clinvar/199725 ^@ NM_000090.3(COL3A1):c.1921C>G (p.Gln641Glu) http://identifiers.org/clinvar/201497 ^@ NM_198056.2(SCN5A):c.3577C>T (p.Arg1193Trp) http://identifiers.org/clinvar/201442 ^@ NM_198056.2(SCN5A):c.702A>C (p.Ser234=) http://identifiers.org/clinvar/199891 ^@ NM_004415.3(DSP):c.5582A>C (p.Gln1861Pro) http://identifiers.org/clinvar/200252 ^@ NM_000238.3(KCNH2):c.2994C>T (p.Phe998=) http://identifiers.org/clinvar/200676 ^@ NM_000238.3(KCNH2):c.2783_2789delGGGAGAG (p.Gly928Alafs) http://identifiers.org/clinvar/200795 ^@ NM_000238.3(KCNH2):c.2734_2738dupCGGGC (p.Ala915Argfs) http://identifiers.org/clinvar/200400 ^@ NM_000238.3(KCNH2):c.1945+6T>C http://identifiers.org/clinvar/200559 ^@ NM_000238.3(KCNH2):c.188C>A (p.Pro63His) http://identifiers.org/clinvar/199666 ^@ NM_001613.2(ACTA2):c.116G>A (p.Arg39His) http://identifiers.org/clinvar/200915 ^@ NM_000218.2(KCNQ1):c.364dupT (p.Cys122Leufs) http://identifiers.org/clinvar/200854 ^@ NM_000218.2(KCNQ1):c.1682G>A (p.Arg561Lys) http://identifiers.org/clinvar/200976 ^@ NM_130799.2(MEN1):c.652C>T (p.Arg218Trp) http://identifiers.org/clinvar/200173 ^@ NM_000138.4(FBN1):c.8154dupT (p.Lys2719Terfs) http://identifiers.org/clinvar/200115 ^@ NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) http://identifiers.org/clinvar/200061 ^@ NM_000138.4(FBN1):c.5197T>G (p.Cys1733Gly) http://identifiers.org/clinvar/199946 ^@ NM_000138.4(FBN1):c.2678-12T>C http://identifiers.org/clinvar/201045 ^@ NM_002474.2(MYH11):c.5873C>T (p.Thr1958Met) http://identifiers.org/clinvar/201098 ^@ NM_002474.2(MYH11):c.479C>T (p.Thr160Met) http://identifiers.org/clinvar/199779 ^@ NM_024422.4(DSC2):c.2487delT (p.Phe829Leufs) http://identifiers.org/clinvar/199834 ^@ NM_001943.4(DSG2):c.86_87delTAinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29Tyrfs) http://identifiers.org/clinvar/201944 ^@ NM_144573.3(NEXN):c.1640T>C (p.Ile547Thr) http://identifiers.org/clinvar/201887 ^@ NM_032578.3(MYPN):c.2177T>A (p.Phe726Tyr) http://identifiers.org/clinvar/201836 ^@ NM_007078.2(LDB3):c.385A>G (p.Ser129Gly) http://identifiers.org/clinvar/202000 ^@ NM_004572.3(PKP2):c.1876T>A (p.Tyr626Asn) http://identifiers.org/clinvar/203107 ^@ NM_001256850.1(TTN):c.101745A>C (p.Lys33915Asn) http://identifiers.org/clinvar/203057 ^@ NM_001256850.1(TTN):c.95543C>T (p.Ser31848Phe) http://identifiers.org/clinvar/203007 ^@ NM_001256850.1(TTN):c.89851G>A (p.Val29951Ile) http://identifiers.org/clinvar/202957 ^@ NM_001256850.1(TTN):c.84488T>G (p.Val28163Gly) http://identifiers.org/clinvar/233625 ^@ NM_005732.3(RAD50):c.1595C>T (p.Thr532Ile) http://identifiers.org/clinvar/232636 ^@ NM_005732.3(RAD50):c.1772G>C (p.Arg591Thr) http://identifiers.org/clinvar/231735 ^@ NM_000535.6(PMS2):c.1344A>G (p.Gly448=) http://identifiers.org/clinvar/232435 ^@ NM_002485.4(NBN):c.897-4A>G http://identifiers.org/clinvar/232736 ^@ NM_004329.2(BMPR1A):c.102G>A (p.Gly34=) http://identifiers.org/clinvar/231535 ^@ NM_000051.3(ATM):c.332-1G>A http://identifiers.org/clinvar/234078 ^@ NM_000051.3(ATM):c.3660A>G (p.Glu1220=) http://identifiers.org/clinvar/233978 ^@ NM_000051.3(ATM):c.3857G>T (p.Cys1286Phe) http://identifiers.org/clinvar/233525 ^@ NM_000059.3(BRCA2):c.4512G>A (p.Val1504=) http://identifiers.org/clinvar/231585 ^@ NM_000059.3(BRCA2):c.8737G>C (p.Asp2913His) http://identifiers.org/clinvar/234178 ^@ NM_024675.3(PALB2):c.3111T>C (p.Ile1037=) http://identifiers.org/clinvar/231985 ^@ NM_024675.3(PALB2):c.2413G>T (p.Val805Phe) http://identifiers.org/clinvar/231835 ^@ NM_004360.4(CDH1):c.1550T>C (p.Met517Thr) http://identifiers.org/clinvar/232135 ^@ NM_001042492.2(NF1):c.4368A>T (p.Thr1456=) http://identifiers.org/clinvar/232686 ^@ NM_001042492.2(NF1):c.4957C>T (p.Arg1653Cys) http://identifiers.org/clinvar/232485 ^@ NM_001042492.2(NF1):c.5982A>G (p.Ala1994=) http://identifiers.org/clinvar/231935 ^@ NM_001042492.2(NF1):c.7289A>C (p.Glu2430Ala) http://identifiers.org/clinvar/232535 ^@ NM_002878.3(RAD51D):c.53A>G (p.Gln18Arg) http://identifiers.org/clinvar/232085 ^@ NM_007294.3(BRCA1):c.2932T>C (p.Tyr978His) http://identifiers.org/clinvar/232385 ^@ NM_007294.3(BRCA1):c.2468G>T (p.Arg823Ile) http://identifiers.org/clinvar/233928 ^@ NM_007294.3(BRCA1):c.478G>A (p.Gly160Arg) http://identifiers.org/clinvar/232586 ^@ NM_032043.2(BRIP1):c.972A>G (p.Thr324=) http://identifiers.org/clinvar/232285 ^@ NM_032043.2(BRIP1):c.10A>G (p.Met4Val) http://identifiers.org/clinvar/231485 ^@ NM_000546.5(TP53):c.1060C>A (p.Gln354Lys) http://identifiers.org/clinvar/231885 ^@ NM_005359.5(SMAD4):c.507G>A (p.Gln169=) http://identifiers.org/clinvar/232235 ^@ NM_007194.3(CHEK2):c.1337delA (p.Asn446Thrfs) http://identifiers.org/clinvar/233575 ^@ NM_007194.3(CHEK2):c.27T>C (p.Ala9=) http://identifiers.org/clinvar/235003 ^@ NM_007078.2(LDB3):c.550A>G (p.Lys184Glu) http://identifiers.org/clinvar/235240 ^@ NM_003573.2(LTBP4):c.1328G>A (p.Gly443Asp) http://identifiers.org/clinvar/235294 ^@ NC_012920.1:m.8527A>G http://identifiers.org/clinvar/235346 ^@ NM_183235.2(RAB27A):c.560G>A (p.Arg187Gln) http://identifiers.org/clinvar/235400 ^@ NM_005787.5(ALG3):c.14T>C (p.Leu5Pro) http://identifiers.org/clinvar/235456 ^@ NM_152569.2(C9orf66):c.316A>C (p.Thr106Pro) http://identifiers.org/clinvar/235507 ^@ NM_020717.3(SHROOM4):c.3147G>A (p.Met1049Ile) http://identifiers.org/clinvar/235561 ^@ NM_000170.2(GLDC):c.2053-5C>G http://identifiers.org/clinvar/235611 ^@ NM_018718.2(CEP41):c.320C>G (p.Ala107Gly) http://identifiers.org/clinvar/236514 ^@ NM_014249.3(NR2E3):c.191G>T (p.Cys64Phe) http://identifiers.org/clinvar/242004 ^@ NM_170707.3(LMNA):c.254T>A (p.Leu85His) http://identifiers.org/clinvar/237118 ^@ NM_000143.3(FH):c.739-10T>C http://identifiers.org/clinvar/238760 ^@ NM_001267550.2(TTN):c.37705G>A (p.Val12569Ile) http://identifiers.org/clinvar/238710 ^@ NM_001267550.2(TTN):c.15600A>G (p.Thr5200=) http://identifiers.org/clinvar/237821 ^@ NM_000465.3(BARD1):c.1545C>T (p.Ser515=) http://identifiers.org/clinvar/239814 ^@ NM_004304.4(ALK):c.2772T>G (p.Gly924=) http://identifiers.org/clinvar/237370 ^@ NM_000251.2(MSH2):c.1435A>C (p.Ser479Arg) http://identifiers.org/clinvar/237169 ^@ NM_000179.2(MSH6):c.2845C>G (p.Gln949Glu) http://identifiers.org/clinvar/237771 ^@ NM_000388.3(CASR):c.573G>A (p.Glu191=) http://identifiers.org/clinvar/241754 ^@ NM_053025.3(MYLK):c.2101G>A (p.Ala701Thr) http://identifiers.org/clinvar/237320 ^@ NM_000249.3(MLH1):c.1732-6T>C http://identifiers.org/clinvar/242204 ^@ NM_198056.2(SCN5A):c.5467G>A (p.Glu1823Lys) http://identifiers.org/clinvar/240064 ^@ NM_004656.3(BAP1):c.626T>C (p.Val209Ala) http://identifiers.org/clinvar/240365 ^@ NM_006206.4(PDGFRA):c.872C>G (p.Ala291Gly) http://identifiers.org/clinvar/240315 ^@ NM_006206.4(PDGFRA):c.1731G>A (p.Pro577=) http://identifiers.org/clinvar/237270 ^@ NM_000222.2(KIT):c.2802+9A>G http://identifiers.org/clinvar/241854 ^@ NM_139076.2(FAM175A):c.402A>G (p.Leu134=) http://identifiers.org/clinvar/236614 ^@ NM_000038.5(APC):c.505A>G (p.Ile169Val) http://identifiers.org/clinvar/236564 ^@ NM_000038.5(APC):c.1866_1867delCCinsAT (p.Tyr622Ter) http://identifiers.org/clinvar/240215 ^@ NM_005732.3(RAD50):c.1692C>A (p.Thr564=) http://identifiers.org/clinvar/241504 ^@ NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) http://identifiers.org/clinvar/239664 ^@ NM_004168.3(SDHA):c.441C>T (p.Pro147=) http://identifiers.org/clinvar/239411 ^@ NM_002890.2(RASA1):c.2528C>A (p.Thr843Asn) http://identifiers.org/clinvar/239514 ^@ NM_003227.3(TFR2):c.2269G>A (p.Gly757Arg) http://identifiers.org/clinvar/241404 ^@ NM_021930.5(RINT1):c.2136T>C (p.Leu712=) http://identifiers.org/clinvar/258913 ^@ NM_003122.4(SPINK1):c.174C>T (p.Cys58=) http://identifiers.org/clinvar/257374 ^@ NM_001080479.2(ARHGEF28):c.4920T>A (p.His1640Gln) http://identifiers.org/clinvar/259363 ^@ NM_004385.4(VCAN):c.348T>C (p.Thr116=) http://identifiers.org/clinvar/259914 ^@ NM_006073.3(TRDN):c.1186+16C>T http://identifiers.org/clinvar/255185 ^@ NM_000129.3(F13A1):c.1951G>A (p.Val651Ile) http://identifiers.org/clinvar/259613 ^@ NM_005045.3(RELN):c.7181-45T>C http://identifiers.org/clinvar/257874 ^@ NM_001277115.1(DNAH11):c.1535T>A (p.Met512Lys) http://identifiers.org/clinvar/257924 ^@ NM_001277115.1(DNAH11):c.7135-18C>T http://identifiers.org/clinvar/255435 ^@ NM_000168.5(GLI3):c.3312C>T (p.Asn1104=) http://identifiers.org/clinvar/260414 ^@ NM_014425.4(INVS):c.3016+48A>G http://identifiers.org/clinvar/255135 ^@ NM_000113.2(TOR1A):c.445-22G>A http://identifiers.org/clinvar/260514 ^@ NM_015046.5(SETX):c.6935+8T>C http://identifiers.org/clinvar/255085 ^@ NM_000093.4(COL5A1):c.4176+35A>C http://identifiers.org/clinvar/257524 ^@ NM_001128227.2(GNE):c.2027-36T>A http://identifiers.org/clinvar/260214 ^@ NM_012203.1(GRHPR):c.866-10_866-9dupTC http://identifiers.org/clinvar/255685 ^@ NM_000264.3(PTCH1):c.394+24C>T http://identifiers.org/clinvar/259263 ^@ NM_004281.3(BAG3):c.910-21A>C http://identifiers.org/clinvar/263263 ^@ NM_201590.2(CACNB2):c.892+7C>T http://identifiers.org/clinvar/260464 ^@ NM_014915.2(ANKRD26):c.2978A>C (p.Glu993Ala) http://identifiers.org/clinvar/259463 ^@ NM_004621.5(TRPC6):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/259764 ^@ NM_005422.2(TECTA):c.5384-19G>A http://identifiers.org/clinvar/257674 ^@ NM_001254757.1(ST3GAL4):c.423C>T (p.Tyr141=) http://identifiers.org/clinvar/263313 ^@ NM_213599.2(ANO5):c.1898+29G>T http://identifiers.org/clinvar/254785 ^@ NM_000062.2(SERPING1):c.1030-20A>G http://identifiers.org/clinvar/258813 ^@ NM_002834.4(PTPN11):c.1011G>A (p.Thr337=) http://identifiers.org/clinvar/260164 ^@ NM_012062.4(DNM1L):c.1080-16C>T http://identifiers.org/clinvar/255735 ^@ NM_000282.3(PCCA):c.231+47_231+50delTATT http://identifiers.org/clinvar/257124 ^@ NM_001024858.2(SPTB):c.474+13G>A http://identifiers.org/clinvar/260364 ^@ NM_014239.3(EIF2B2):c.*3G>C http://identifiers.org/clinvar/255285 ^@ NM_000138.4(FBN1):c.1147+28A>G http://identifiers.org/clinvar/335610 ^@ NM_001029883.2(C2orf71):c.*1224C>G http://identifiers.org/clinvar/335660 ^@ NM_001029883.2(C2orf71):c.1500G>A (p.Met500Ile) http://identifiers.org/clinvar/335760 ^@ NM_000379.3(XDH):c.3647C>A (p.Pro1216His) http://identifiers.org/clinvar/332759 ^@ NM_133378.4(TTN):c.74704C>A (p.Pro24902Thr) http://identifiers.org/clinvar/335960 ^@ NM_000104.3(CYP1B1):c.-97dupC http://identifiers.org/clinvar/336060 ^@ NM_022437.2(ABCG8):c.-15A>C http://identifiers.org/clinvar/336110 ^@ NM_133259.3(LRPPRC):c.*1816T>C http://identifiers.org/clinvar/335460 ^@ NM_194248.2(OTOF):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/335560 ^@ NM_144631.5(ZNF513):c.322C>A (p.Pro108Thr) http://identifiers.org/clinvar/336417 ^@ NM_002354.2(EPCAM):c.*168C>T http://identifiers.org/clinvar/336617 ^@ NM_001039348.2(EFEMP1):c.*182G>C http://identifiers.org/clinvar/335860 ^@ NM_014946.3(SPAST):c.*1454G>C http://identifiers.org/clinvar/336767 ^@ NM_015910.5(WDPCP):c.1079C>T (p.Ser360Leu) http://identifiers.org/clinvar/336010 ^@ NM_005633.3(SOS1):c.*399_*400insCA http://identifiers.org/clinvar/336967 ^@ NM_003494.3(DYSF):c.3797C>T (p.Pro1266Leu) http://identifiers.org/clinvar/336467 ^@ NM_000233.3(LHCGR):c.384-15T>C http://identifiers.org/clinvar/337317 ^@ NM_003896.3(ST3GAL5):c.*976G>T http://identifiers.org/clinvar/336667 ^@ NM_002618.3(PEX13):c.355G>A (p.Val119Ile) http://identifiers.org/clinvar/337667 ^@ NM_001298.2(CNGA3):c.1866C>T (p.Asp622=) http://identifiers.org/clinvar/336817 ^@ NM_002056.3(GFPT1):c.*3345C>G http://identifiers.org/clinvar/336917 ^@ NM_001692.3(ATP6V1B1):c.33G>C (p.Gly11=) http://identifiers.org/clinvar/337217 ^@ NM_000821.6(GGCX):c.*2381C>T http://identifiers.org/clinvar/342297 ^@ NM_016247.3(IMPG2):c.*2242G>A http://identifiers.org/clinvar/343186 ^@ NM_014049.4(ACAD9):c.-168T>C http://identifiers.org/clinvar/342447 ^@ NM_000551.3(VHL):c.*1741G>T http://identifiers.org/clinvar/335710 ^@ NM_004304.4(ALK):c.655A>G (p.Ile219Val) http://identifiers.org/clinvar/335360 ^@ NM_001035256.2(POMC):c.-70-11T>C http://identifiers.org/clinvar/343686 ^@ NM_031850.3(AGTR1):c.*798G>A http://identifiers.org/clinvar/343736 ^@ NG_011800.2:g.54489C>T http://identifiers.org/clinvar/335410 ^@ NM_000183.2(HADHB):c.*136G>C http://identifiers.org/clinvar/343836 ^@ NM_005677.3(COLQ):c.*492G>A http://identifiers.org/clinvar/335910 ^@ NM_000104.3(CYP1B1):c.*2409A>T http://identifiers.org/clinvar/335810 ^@ NM_000348.3(SRD5A2):c.*286A>G http://identifiers.org/clinvar/354552 ^@ NM_002397.4(MEF2C):c.*3582G>A http://identifiers.org/clinvar/354602 ^@ NM_002397.4(MEF2C):c.-513C>T http://identifiers.org/clinvar/354852 ^@ NM_007214.4(SEC63):c.*2046C>G http://identifiers.org/clinvar/354902 ^@ NM_007214.4(SEC63):c.1666G>A (p.Val556Ile) http://identifiers.org/clinvar/355153 ^@ NM_002667.4(PLN):c.*1243C>T http://identifiers.org/clinvar/355203 ^@ NM_006073.3(TRDN):c.*531T>C http://identifiers.org/clinvar/355303 ^@ NM_000426.3(LAMA2):c.8633T>G (p.Ile2878Ser) http://identifiers.org/clinvar/358552 ^@ NM_000111.2(SLC26A3):c.738A>G (p.Val246=) http://identifiers.org/clinvar/351765 ^@ NM_024577.3(SH3TC2):c.*7570G>A http://identifiers.org/clinvar/351865 ^@ NM_024577.3(SH3TC2):c.*1935T>C http://identifiers.org/clinvar/351965 ^@ NM_000440.2(PDE6A):c.*1304G>A http://identifiers.org/clinvar/352015 ^@ NM_000112.3(SLC26A2):c.-223A>G http://identifiers.org/clinvar/351815 ^@ NM_024577.3(SH3TC2):c.*4935A>T http://identifiers.org/clinvar/359341 ^@ NM_016203.3(PRKAG2):c.*127C>G http://identifiers.org/clinvar/359441 ^@ NM_022458.3(LMBR1):c.-154G>A http://identifiers.org/clinvar/352113 ^@ NM_005211.3(CSF1R):c.*232_*233dupCC http://identifiers.org/clinvar/352163 ^@ NM_005211.3(CSF1R):c.733G>T (p.Ala245Ser) http://identifiers.org/clinvar/359491 ^@ NM_001101426.3(ISPD):c.*3475C>T http://identifiers.org/clinvar/359841 ^@ NM_004403.2(DFNA5):c.1179C>T (p.Leu393=) http://identifiers.org/clinvar/352263 ^@ NM_000405.4(GM2A):c.*274A>G http://identifiers.org/clinvar/352313 ^@ NM_000171.3(GLRA1):c.722G>A (p.Arg241Gln) http://identifiers.org/clinvar/352363 ^@ NM_000337.5(SGCD):c.*2697T>C http://identifiers.org/clinvar/352613 ^@ NM_000806.5(GABRA1):c.*1443A>G http://identifiers.org/clinvar/352513 ^@ NM_001099287.1(NIPAL4):c.521-9G>A http://identifiers.org/clinvar/352713 ^@ NM_012188.4(FOXI1):c.*119C>A http://identifiers.org/clinvar/360291 ^@ NM_000162.3(GCK):c.*548G>A http://identifiers.org/clinvar/352663 ^@ NM_000816.3(GABRG2):c.*1497C>T http://identifiers.org/clinvar/360391 ^@ NM_014855.2(AP5Z1):c.*1736C>G http://identifiers.org/clinvar/353552 ^@ NM_002310.5(LIFR):c.*4405G>C http://identifiers.org/clinvar/353652 ^@ NM_000436.3(OXCT1):c.*191A>G http://identifiers.org/clinvar/353902 ^@ NM_006308.2(HSPB3):c.355A>G (p.Lys119Glu) http://identifiers.org/clinvar/306225 ^@ NM_024079.4(ALG8):c.286A>T (p.Asn96Tyr) http://identifiers.org/clinvar/306376 ^@ NM_012193.3(FZD4):c.*2496G>A http://identifiers.org/clinvar/306576 ^@ NM_030962.3(SBF2):c.5232-7C>A http://identifiers.org/clinvar/361091 ^@ NM_017890.4(VPS13B):c.10640C>T (p.Thr3547Ile) http://identifiers.org/clinvar/300582 ^@ NM_004273.4(CHST3):c.*809C>T http://identifiers.org/clinvar/300682 ^@ NM_004273.4(CHST3):c.*4821G>A http://identifiers.org/clinvar/364579 ^@ NM_003640.4(IKBKAP):c.322G>A (p.Val108Ile) http://identifiers.org/clinvar/364829 ^@ NM_000177.4(GSN):c.2199G>A (p.Thr733=) http://identifiers.org/clinvar/364629 ^@ NM_000031.5(ALAD):c.*813A>G http://identifiers.org/clinvar/300982 ^@ NM_007055.3(POLR3A):c.*2190G>C http://identifiers.org/clinvar/364779 ^@ NM_018249.5(CDK5RAP2):c.978A>G (p.Ala326=) http://identifiers.org/clinvar/301182 ^@ NM_000429.2(MAT1A):c.*99A>T http://identifiers.org/clinvar/365229 ^@ NM_000113.2(TOR1A):c.*191G>T http://identifiers.org/clinvar/365379 ^@ NM_015046.5(SETX):c.60C>T (p.Arg20=) http://identifiers.org/clinvar/365079 ^@ NM_000118.3(ENG):c.*508A>C http://identifiers.org/clinvar/301382 ^@ NM_005271.4(GLUD1):c.*908T>C http://identifiers.org/clinvar/365579 ^@ NM_014694.3(ADAMTSL2):c.690T>C (p.Ser230=) http://identifiers.org/clinvar/301482 ^@ NM_000314.6(PTEN):c.*2173C>T http://identifiers.org/clinvar/301582 ^@ NM_000235.3(LIPA):c.380G>A (p.Arg127Gln) http://identifiers.org/clinvar/365679 ^@ NM_000787.3(DBH):c.*116G>A http://identifiers.org/clinvar/365729 ^@ NM_000093.4(COL5A1):c.4371G>A (p.Pro1457=) http://identifiers.org/clinvar/310425 ^@ NM_001131025.1(PEX5):c.1521C>T (p.Ala507=) http://identifiers.org/clinvar/302671 ^@ NM_000732.4(CD3D):c.274+4C>T http://identifiers.org/clinvar/302721 ^@ NM_001164277.1(SLC37A4):c.-700+9C>T http://identifiers.org/clinvar/302771 ^@ NM_005188.3(CBL):c.-106G>A http://identifiers.org/clinvar/310630 ^@ NM_025114.3(CEP290):c.442-12_442-11dupTT http://identifiers.org/clinvar/306726 ^@ NM_018979.3(WNK1):c.*2378_*2381dupGTTT http://identifiers.org/clinvar/310730 ^@ NM_002108.3(HAL):c.-108C>T http://identifiers.org/clinvar/310930 ^@ NM_000123.3(ERCC5):c.2268G>C (p.Gln756His) http://identifiers.org/clinvar/312819 ^@ NM_001126106.2(SLC7A7):c.954A>T (p.Leu318Phe) http://identifiers.org/clinvar/314558 ^@ NM_013382.5(POMT2):c.1133A>G (p.His378Arg) http://identifiers.org/clinvar/340747 ^@ NM_017929.5(PEX26):c.-127G>A http://identifiers.org/clinvar/312919 ^@ NM_000257.3(MYH7):c.-36C>T http://identifiers.org/clinvar/314658 ^@ NM_004863.3(SPTLC2):c.*303G>A http://identifiers.org/clinvar/314808 ^@ NM_198309.3(TTC8):c.*247T>C http://identifiers.org/clinvar/313069 ^@ NM_025152.2(NUBPL):c.*1773A>G http://identifiers.org/clinvar/314908 ^@ NM_004239.4(TRIP11):c.*610A>C http://identifiers.org/clinvar/315108 ^@ NM_177438.2(DICER1):c.3094-8_3094-5delACTT http://identifiers.org/clinvar/322843 ^@ NM_004937.2(CTNS):c.853-15G>A http://identifiers.org/clinvar/315308 ^@ NM_139057.3(ADAMTS17):c.790-6T>C http://identifiers.org/clinvar/341797 ^@ NM_001429.3(EP300):c.2609C>T (p.Pro870Leu) http://identifiers.org/clinvar/341847 ^@ NM_001429.3(EP300):c.*753T>C http://identifiers.org/clinvar/323193 ^@ NM_021939.3(FKBP10):c.1374G>A (p.Pro458=) http://identifiers.org/clinvar/341997 ^@ NM_018006.4(TRMU):c.-147C>A http://identifiers.org/clinvar/315658 ^@ NM_005159.4(ACTC1):c.*1471G>A http://identifiers.org/clinvar/342097 ^@ NM_015166.3(MLC1):c.*431C>T http://identifiers.org/clinvar/323493 ^@ NM_000342.3(SLC4A1):c.*794delT http://identifiers.org/clinvar/367698 ^@ NM_000061.2(BTK):c.520+15C>T http://identifiers.org/clinvar/315858 ^@ NM_144508.4(KNL1):c.3881C>T (p.Ala1294Val) http://identifiers.org/clinvar/324200 ^@ NM_015294.4(TRIM37):c.1264T>C (p.Leu422=) http://identifiers.org/clinvar/314608 ^@ NM_004863.3(SPTLC2):c.*3454C>T http://identifiers.org/clinvar/314708 ^@ NM_000369.2(TSHR):c.*431T>C http://identifiers.org/clinvar/317247 ^@ NM_000326.4(RLBP1):c.-104T>G http://identifiers.org/clinvar/324991 ^@ NM_000018.3(ACADVL):c.994G>A (p.Val332Ile) http://identifiers.org/clinvar/317398 ^@ NM_001039958.1(MESP2):c.*132_*134dupAAG http://identifiers.org/clinvar/315358 ^@ NM_144599.4(NIPA1):c.*3480C>T http://identifiers.org/clinvar/317498 ^@ NM_000875.4(IGF1R):c.*1228G>A http://identifiers.org/clinvar/317548 ^@ NM_000875.4(IGF1R):c.*3197G>A http://identifiers.org/clinvar/317598 ^@ NM_000875.4(IGF1R):c.*5146G>A http://identifiers.org/clinvar/325341 ^@ NM_004035.6(ACOX1):c.*1813C>T http://identifiers.org/clinvar/315208 ^@ NM_139057.3(ADAMTS17):c.*885A>G http://identifiers.org/clinvar/325391 ^@ NM_004035.6(ACOX1):c.458C>T (p.Thr153Ile) http://identifiers.org/clinvar/315758 ^@ NM_152594.2(SPRED1):c.*2359G>C http://identifiers.org/clinvar/325641 ^@ NM_000546.5(TP53):c.*327C>T http://identifiers.org/clinvar/325541 ^@ NM_006640.4(SEPT9):c.223G>T (p.Val75Leu) http://identifiers.org/clinvar/325591 ^@ NM_006640.4(SEPT9):c.*586A>G http://identifiers.org/clinvar/325691 ^@ NM_138793.3(CANT1):c.*301C>T http://identifiers.org/clinvar/325792 ^@ NM_000152.4(GAA):c.2319C>T (p.Tyr773=) http://identifiers.org/clinvar/372013 ^@ NM_006231.3(POLE):c.5379-19C>T http://identifiers.org/clinvar/371813 ^@ NM_007294.3(BRCA1):c.4358-2726A>G http://identifiers.org/clinvar/371863 ^@ NM_000546.5(TP53):c.993+244G>A http://identifiers.org/clinvar/371963 ^@ NM_001256849.1(POLD1):c.1137+10G>A http://identifiers.org/clinvar/372113 ^@ NM_006412.3(AGPAT2):c.755_763delTGAGGACCA (p.Met252_Thr254del) http://identifiers.org/clinvar/372187 ^@ NM_004984.2(KIF5A):c.2854delC (p.Gln952Argfs) http://identifiers.org/clinvar/372243 ^@ NM_153461.3(IL17RC):c.412C>T (p.Gln138Ter) http://identifiers.org/clinvar/373508 ^@ NM_001271208.1(NEB):c.4528G>A (p.Glu1510Lys) http://identifiers.org/clinvar/372507 ^@ NM_006516.2(SLC2A1):c.418G>A (p.Val140Met) http://identifiers.org/clinvar/373258 ^@ NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) http://identifiers.org/clinvar/372349 ^@ NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) http://identifiers.org/clinvar/373058 ^@ NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter) http://identifiers.org/clinvar/373158 ^@ NM_012160.4(FBXL4):c.1025C>G (p.Ser342Cys) http://identifiers.org/clinvar/373808 ^@ NM_001168235.1(FREM3):c.83_91delCGCTGCAGG (p.Ala28_Gln30del) http://identifiers.org/clinvar/373458 ^@ NM_000089.3(COL1A2):c.1068G>C (p.Glu356Asp) http://identifiers.org/clinvar/373308 ^@ NM_133436.3(ASNS):c.1556G>A (p.Arg519His) http://identifiers.org/clinvar/373558 ^@ NM_023110.2(FGFR1):c.1855-2A>T http://identifiers.org/clinvar/373358 ^@ NM_001134363.2(RBM20):c.541G>A (p.Gly181Arg) http://identifiers.org/clinvar/373608 ^@ NM_014000.2(VCL):c.2005C>T (p.Arg669Ter) http://identifiers.org/clinvar/372297 ^@ NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) http://identifiers.org/clinvar/373658 ^@ NM_022489.3(INF2):c.1189G>A (p.Val397Met) http://identifiers.org/clinvar/373708 ^@ NM_005902.3(SMAD3):c.175A>G (p.Asn59Asp) http://identifiers.org/clinvar/373758 ^@ NM_020774.3(MIB1):c.442G>T (p.Ala148Ser) http://identifiers.org/clinvar/373408 ^@ NM_001172673.1(CELF5):c.1016A>C (p.Gln339Pro) http://identifiers.org/clinvar/373108 ^@ NM_000342.3(SLC4A1):c.569_579delCCCAACACTCC (p.Pro190Leufs) http://identifiers.org/clinvar/372400 ^@ NM_000425.4(L1CAM):c.170G>A (p.Cys57Tyr) http://identifiers.org/clinvar/372454 ^@ NM_000444.5(PHEX):c.871C>T (p.Arg291Ter) http://identifiers.org/clinvar/373208 ^@ NM_004006.2(DMD):c.3365_3366dupAG (p.Phe1123Serfs) http://identifiers.org/clinvar/373858 ^@ NM_007294.3(BRCA1):c.5468-285_*4016delinsCA http://identifiers.org/clinvar/374111 ^@ NM_020919.3(ALS2):c.4022G>A (p.Arg1341His) http://identifiers.org/clinvar/374011 ^@ NM_182943.2(PLOD2):c.1361G>T (p.Gly454Val) http://identifiers.org/clinvar/373911 ^@ NM_000372.4(TYR):c.74dupT (p.Ser26Leufs) http://identifiers.org/clinvar/374061 ^@ NM_001451.2(FOXF1):c.280A>T (p.Asn94Tyr) http://identifiers.org/clinvar/373961 ^@ NM_030582.3(COL18A1):c.3979C>T (p.Arg1327Ter) http://identifiers.org/clinvar/374211 ^@ NM_000370.3(TTPA):c.552G>A (p.Thr184=) http://identifiers.org/clinvar/374400 ^@ NM_194456.1(KRIT1):c.146_147delGA (p.Arg49Lysfs) http://identifiers.org/clinvar/374265 ^@ NM_012335.3(MYO1F):c.1781G>A (p.Arg594Gln) http://identifiers.org/clinvar/374335 ^@ NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) http://identifiers.org/clinvar/374453 ^@ NM_004006.2(DMD):c.7187C>T (p.Thr2396Ile) http://identifiers.org/clinvar/374503 ^@ NM_003494.3(DYSF):c.5020delT (p.Phe1674Leufs) http://identifiers.org/clinvar/374553 ^@ NM_014846.3(WASHC5):c.2422A>G (p.Ile808Val) http://identifiers.org/clinvar/374603 ^@ NM_178857.5(RP1L1):c.5452G>A (p.Ala1818Thr) http://identifiers.org/clinvar/374980 ^@ NM_001024847.2(TGFBR2):c.1090C>T (p.Arg364Trp) http://identifiers.org/clinvar/381654 ^@ NM_000388.3(CASR):c.2431A>G (p.Met811Val) http://identifiers.org/clinvar/390187 ^@ NM_032279.3(ATP13A4):c.1396A>G (p.Ile466Val) http://identifiers.org/clinvar/385149 ^@ NM_001148.4(ANK2):c.11398G>A (p.Glu3800Lys) http://identifiers.org/clinvar/390587 ^@ NM_006514.3(SCN10A):c.390-15A>G http://identifiers.org/clinvar/384599 ^@ NM_152778.2(MFSD8):c.1393C>A (p.Arg465=) http://identifiers.org/clinvar/390837 ^@ NM_001080522.2(CC2D2A):c.2728C>A (p.Arg910=) http://identifiers.org/clinvar/381604 ^@ NM_000248.3(MITF):c.909G>A (p.Thr303=) http://identifiers.org/clinvar/388998 ^@ NM_024582.4(FAT4):c.12980A>G (p.Asp4327Gly) http://identifiers.org/clinvar/393176 ^@ NM_014264.4(PLK4):c.1948T>C (p.Tyr650His) http://identifiers.org/clinvar/379111 ^@ NM_015697.7(COQ2):c.603T>C (p.Ala201=) http://identifiers.org/clinvar/378861 ^@ NM_006005.3(WFS1):c.2622C>T (p.Ala874=) http://identifiers.org/clinvar/377462 ^@ NM_001182.4(ALDH7A1):c.913+8T>C http://identifiers.org/clinvar/389098 ^@ NM_000038.5(APC):c.4725A>G (p.Leu1575=) http://identifiers.org/clinvar/384649 ^@ NM_000426.3(LAMA2):c.7058G>A (p.Arg2353His) http://identifiers.org/clinvar/379161 ^@ NM_000806.5(GABRA1):c.873C>T (p.Leu291=) http://identifiers.org/clinvar/384849 ^@ NM_022464.4(SIL1):c.69C>T (p.Ala23=) http://identifiers.org/clinvar/393276 ^@ NM_000404.3(GLB1):c.1696C>T (p.Pro566Ser) http://identifiers.org/clinvar/384749 ^@ NM_021911.2(GABRB2):c.357T>C (p.Asp119=) http://identifiers.org/clinvar/380162 ^@ NM_001167734.1(VARS2):c.2983G>A (p.Ala995Thr) http://identifiers.org/clinvar/378357 ^@ NM_020381.3(PDSS2):c.1009-14C>G http://identifiers.org/clinvar/382055 ^@ NM_004415.3(DSP):c.1140+6T>C http://identifiers.org/clinvar/388898 ^@ NM_020320.4(RARS2):c.1263A>G (p.Gln421=) http://identifiers.org/clinvar/381154 ^@ NM_002290.4(LAMA4):c.2333-19T>C http://identifiers.org/clinvar/391537 ^@ NM_005670.3(EPM2A):c.876G>A (p.Val292=) http://identifiers.org/clinvar/390137 ^@ NM_080680.2(COL11A2):c.3831C>T (p.Pro1277=) http://identifiers.org/clinvar/387698 ^@ NM_000038.5(APC):c.3567A>G (p.Ser1189=) http://identifiers.org/clinvar/390887 ^@ NM_014251.2(SLC25A13):c.15+9G>A http://identifiers.org/clinvar/381955 ^@ NM_001127500.2(MET):c.-14-13C>T http://identifiers.org/clinvar/390737 ^@ NM_001101.3(ACTB):c.36C>T (p.Asn12=) http://identifiers.org/clinvar/383508 ^@ NM_001999.3(FBN2):c.-33C>A http://identifiers.org/clinvar/391337 ^@ NM_000535.6(PMS2):c.250+17T>G http://identifiers.org/clinvar/381304 ^@ NM_007171.3(POMT1):c.606-9T>C http://identifiers.org/clinvar/383558 ^@ NM_002485.4(NBN):c.1671C>A (p.Ala557=) http://identifiers.org/clinvar/384549 ^@ NM_007327.3(GRIN1):c.1198-6C>T http://identifiers.org/clinvar/388148 ^@ NM_203447.3(DOCK8):c.1863T>C (p.His621=) http://identifiers.org/clinvar/379061 ^@ NM_000368.4(TSC1):c.3076G>A (p.Ala1026Thr) http://identifiers.org/clinvar/379261 ^@ NM_004415.3(DSP):c.2643G>A (p.Leu881=) http://identifiers.org/clinvar/388398 ^@ NM_006393.2(NEBL):c.228T>C (p.His76=) http://identifiers.org/clinvar/133051 ^@ NM_000540.2(RYR1):c.13514+77C>T http://identifiers.org/clinvar/133101 ^@ NM_000540.2(RYR1):c.1589G>A (p.Arg530His) http://identifiers.org/clinvar/133151 ^@ NM_000540.2(RYR1):c.5619G>A (p.Glu1873=) http://identifiers.org/clinvar/133201 ^@ NM_000540.2(RYR1):c.7355G>A (p.Arg2452Gln) http://identifiers.org/clinvar/133258 ^@ NM_004895.3:c.3006-45_3006-44del http://identifiers.org/clinvar/133343 ^@ NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del http://identifiers.org/clinvar/133393 ^@ NM_003073.4(SMARCB1):c.500+305C>A http://identifiers.org/clinvar/133443 ^@ NM_007313.2(ABL1):c.2972C>T (p.Ser991Leu) http://identifiers.org/clinvar/133493 ^@ NM_152424.3(AMER1):c.3271C>T (p.Arg1091Trp) http://identifiers.org/clinvar/133544 ^@ NM_015071.5(ARHGAP26):c.2350G>A (p.Asp784Asn) http://identifiers.org/clinvar/133594 ^@ NM_015338.5(ASXL1):c.2395G>T (p.Asp799Tyr) http://identifiers.org/clinvar/133644 ^@ NM_000489.4(ATRX):c.189G>A (p.Glu63=) http://identifiers.org/clinvar/133694 ^@ NM_001123383.1(BCOR):c.3700A>G (p.Arg1234Gly) http://identifiers.org/clinvar/133747 ^@ NM_032043.2(BRIP1):c.1727A>G (p.Asn576Ser) http://identifiers.org/clinvar/133798 ^@ NM_032415.5(CARD11):c.2395G>A (p.Asp799Asn) http://identifiers.org/clinvar/133848 ^@ NM_004360.4(CDH1):c.2074G>A (p.Ala692Thr) http://identifiers.org/clinvar/133898 ^@ NM_015125.4(CIC):c.2201C>T (p.Ser734Leu) http://identifiers.org/clinvar/133948 ^@ NM_022148.3(CRLF2):c.406G>A (p.Val136Met) http://identifiers.org/clinvar/134898 ^@ NM_006164.4(NFE2L2):c.127C>T (p.Arg43Trp) http://identifiers.org/clinvar/134948 ^@ NM_017617.4(NOTCH1):c.7645C>T (p.Arg2549Cys) http://identifiers.org/clinvar/135597 ^@ NM_002136.3(HNRNPA1):c.826A>C (p.Met276Leu) http://identifiers.org/clinvar/135659 ^@ NM_006087.3(TUBB4A):c.467G>T (p.Arg156Leu) http://identifiers.org/clinvar/135719 ^@ NM_000038.5(APC):c.7625A>G (p.Asn2542Ser) http://identifiers.org/clinvar/135770 ^@ NM_000051.3(ATM):c.6343G>A (p.Val2115Ile) http://identifiers.org/clinvar/135828 ^@ NM_000179.2(MSH6):c.1016C>G (p.Ala339Gly) http://identifiers.org/clinvar/135878 ^@ NM_000264.3(PTCH1):c.2304C>T (p.Thr768=) http://identifiers.org/clinvar/135928 ^@ NM_000455.4(STK11):c.920+7G>T http://identifiers.org/clinvar/135979 ^@ NM_001127500.2(MET):c.960G>A (p.Ala320=) http://identifiers.org/clinvar/136030 ^@ NM_002354.2(EPCAM):c.7C>T (p.Pro3Ser) http://identifiers.org/clinvar/136081 ^@ NM_007294.3(BRCA1):c.212+15A>G http://identifiers.org/clinvar/136131 ^@ NM_024675.3(PALB2):c.2087C>T (p.Thr696Met) http://identifiers.org/clinvar/136191 ^@ NM_130838.1(UBE3A):c.277_280delAAAG (p.Lys93Alafs) http://identifiers.org/clinvar/136242 ^@ NM_004299.4(ABCB7):c.315C>T (p.Leu105=) http://identifiers.org/clinvar/136293 ^@ NM_000020.2(ACVRL1):c.313+11C>T http://identifiers.org/clinvar/136344 ^@ NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=) http://identifiers.org/clinvar/136395 ^@ NM_001148.4(ANK2):c.11032+17G>A http://identifiers.org/clinvar/185883 ^@ NM_007294.3(BRCA1):c.3010G>C (p.Glu1004Gln) http://identifiers.org/clinvar/183843 ^@ NM_007294.3(BRCA1):c.2232T>G (p.Ala744=) http://identifiers.org/clinvar/186283 ^@ NM_032043.2(BRIP1):c.3050C>T (p.Pro1017Leu) http://identifiers.org/clinvar/185983 ^@ NM_005359.5(SMAD4):c.1139+3A>G http://identifiers.org/clinvar/186383 ^@ NM_000455.4(STK11):c.609G>C (p.Pro203=) http://identifiers.org/clinvar/184044 ^@ NM_000455.4(STK11):c.612C>T (p.Phe204=) http://identifiers.org/clinvar/183994 ^@ NM_000455.4(STK11):c.1035C>T (p.His345=) http://identifiers.org/clinvar/184094 ^@ NM_007194.3(CHEK2):c.1290T>C (p.His430=) http://identifiers.org/clinvar/187085 ^@ NM_007194.3(CHEK2):c.277delT (p.Trp93Glyfs) http://identifiers.org/clinvar/188057 ^@ NM_001244008.1(KIF1A):c.206C>T (p.Ser69Leu) http://identifiers.org/clinvar/188108 ^@ NM_000059.3(BRCA2):c.8515T>C (p.Tyr2839His) http://identifiers.org/clinvar/188577 ^@ NM_000256.3(MYBPC3):c.3169A>G (p.Thr1057Ala) http://identifiers.org/clinvar/188527 ^@ NM_000256.3(MYBPC3):c.506-24G>A http://identifiers.org/clinvar/188427 ^@ NM_000059.3(BRCA2):c.1594G>A (p.Glu532Lys) http://identifiers.org/clinvar/188627 ^@ NM_000257.3(MYH7):c.3726+30A>C http://identifiers.org/clinvar/188477 ^@ NM_000152.4(GAA):c.852G>A (p.Ala284=) http://identifiers.org/clinvar/188677 ^@ NM_000363.4(TNNI3):c.*35C>T http://identifiers.org/clinvar/188928 ^@ NM_000478.5(ALPL):c.215T>C (p.Ile72Thr) http://identifiers.org/clinvar/189129 ^@ NM_000128.3(F11):c.908delG (p.Gly303Glufs) http://identifiers.org/clinvar/188727 ^@ NM_000128.3(F11):c.1075delA (p.Ile359Tyrfs) http://identifiers.org/clinvar/188878 ^@ NM_000441.1(SLC26A4):c.554G>C (p.Arg185Thr) http://identifiers.org/clinvar/188978 ^@ NM_000441.1(SLC26A4):c.1520delT (p.Leu507Terfs) http://identifiers.org/clinvar/189029 ^@ NM_000466.2(PEX1):c.911_912delCT (p.Ser304Cysfs) http://identifiers.org/clinvar/188827 ^@ NM_019098.4(CNGB3):c.991-3T>G http://identifiers.org/clinvar/189179 ^@ NM_000391.3(TPP1):c.1379G>A (p.Trp460Ter) http://identifiers.org/clinvar/189079 ^@ NM_000382.2(ALDH3A2):c.798+5G>A http://identifiers.org/clinvar/188777 ^@ NM_000151.3(G6PC):c.969C>A (p.Tyr323Ter) http://identifiers.org/clinvar/189246 ^@ NM_006019.3(TCIRG1):c.1674-1G>A http://identifiers.org/clinvar/189298 ^@ NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) http://identifiers.org/clinvar/189447 ^@ NM_000314.6(PTEN):c.321delT (p.Asp109Thrfs) http://identifiers.org/clinvar/189519 ^@ NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) http://identifiers.org/clinvar/189619 ^@ NM_005249.4(FOXG1):c.700T>C (p.Ser234Pro) http://identifiers.org/clinvar/189669 ^@ NM_004992.3(MECP2):c.1196_1266del71 (p.Pro399Leufs) http://identifiers.org/clinvar/189719 ^@ NM_004992.3(MECP2):c.766A>T (p.Lys256Ter) http://identifiers.org/clinvar/189769 ^@ NM_001110792.1(MECP2):c.-46_-45delGC http://identifiers.org/clinvar/189569 ^@ NM_003159.2(CDKL5):c.207_213delGGAAAAC (p.Glu70Leufs) http://identifiers.org/clinvar/190003 ^@ NM_001165963.1(SCN1A):c.5297_5298delTT (p.Phe1766Cysfs) http://identifiers.org/clinvar/189903 ^@ NM_001165963.1(SCN1A):c.4188C>A (p.Cys1396Ter) http://identifiers.org/clinvar/189853 ^@ NM_001165963.1(SCN1A):c.1667delT (p.Leu556Cysfs) http://identifiers.org/clinvar/189953 ^@ NM_001165963.1(SCN1A):c.1516C>T (p.Gln506Ter) http://identifiers.org/clinvar/190124 ^@ NM_014444.4(TUBGCP4):c.579dupT (p.Gly194Trpfs) http://identifiers.org/clinvar/228334 ^@ NM_012144.3(DNAI1):c.336delC (p.Asp114Thrfs) http://identifiers.org/clinvar/228284 ^@ NM_001277269.1(OTOG):c.535delG (p.Val179Trpfs) http://identifiers.org/clinvar/226862 ^@ NM_001277269.1(OTOG):c.1251T>C (p.Thr417=) http://identifiers.org/clinvar/227783 ^@ NM_001277269.1(OTOG):c.5087C>T (p.Pro1696Leu) http://identifiers.org/clinvar/226912 ^@ NM_001277269.1(OTOG):c.7930+8C>T http://identifiers.org/clinvar/226662 ^@ NM_181507.1(HPS5):c.1785-13C>T http://identifiers.org/clinvar/226562 ^@ NM_019887.5(DIABLO):c.690G>A (p.Ser230=) http://identifiers.org/clinvar/226612 ^@ NM_023036.4(DNAI2):c.590A>T (p.Asp197Val) http://identifiers.org/clinvar/226812 ^@ NM_003803.3(MYOM1):c.2384+4A>T http://identifiers.org/clinvar/226712 ^@ NM_144612.6(LOXHD1):c.2027A>G (p.Asp676Gly) http://identifiers.org/clinvar/226512 ^@ NM_001039213.3(CEACAM16):c.96C>T (p.Ser32=) http://identifiers.org/clinvar/226462 ^@ NM_001692.3(ATP6V1B1):c.785+10C>T http://identifiers.org/clinvar/234288 ^@ NM_004895.4(NLRP3):c.410G>A (p.Arg137His) http://identifiers.org/clinvar/234562 ^@ NM_000179.2(MSH6):c.3257C>T (p.Pro1086Leu) http://identifiers.org/clinvar/234913 ^@ NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) http://identifiers.org/clinvar/234762 ^@ NM_006415.3(SPTLC1):c.784A>G (p.Lys262Glu) http://identifiers.org/clinvar/234712 ^@ NM_000314.6(PTEN):c.-813G>A http://identifiers.org/clinvar/234405 ^@ NM_000314.6(PTEN):c.-741G>A http://identifiers.org/clinvar/234460 ^@ NM_001065.3(TNFRSF1A):c.317G>A (p.Arg106Gln) http://identifiers.org/clinvar/234511 ^@ NM_000059.3(BRCA2):c.8393C>G (p.Pro2798Arg) http://identifiers.org/clinvar/234863 ^@ NM_000059.3(BRCA2):c.9168C>G (p.His3056Gln) http://identifiers.org/clinvar/234812 ^@ NM_004360.4(CDH1):c.61C>A (p.Leu21Ile) http://identifiers.org/clinvar/234340 ^@ NM_014646.2(LPIN2):c.1814C>T (p.Ser605Leu) http://identifiers.org/clinvar/234662 ^@ NM_000116.4(TAZ):c.850C>T (p.Leu284Phe) http://identifiers.org/clinvar/234612 ^@ NM_000166.5(GJB1):c.556G>T (p.Glu186Ter) http://identifiers.org/clinvar/231785 ^@ NM_000143.3(FH):c.1216A>G (p.Asn406Asp) http://identifiers.org/clinvar/231635 ^@ NM_001128425.1(MUTYH):c.1596C>A (p.Phe532Leu) http://identifiers.org/clinvar/234028 ^@ NM_001128425.1(MUTYH):c.395T>A (p.Val132Asp) http://identifiers.org/clinvar/232335 ^@ NM_001128425.1(MUTYH):c.324A>G (p.Lys108=) http://identifiers.org/clinvar/232185 ^@ NM_000465.3(BARD1):c.864T>C (p.Ser288=) http://identifiers.org/clinvar/231685 ^@ NM_000251.2(MSH2):c.802T>G (p.Ser268Ala) http://identifiers.org/clinvar/232035 ^@ NM_000251.2(MSH2):c.1117A>C (p.Arg373=) http://identifiers.org/clinvar/233725 ^@ NM_000251.2(MSH2):c.1656C>T (p.Thr552=) http://identifiers.org/clinvar/234128 ^@ NM_000251.2(MSH2):c.2100A>G (p.Ala700=) http://identifiers.org/clinvar/233675 ^@ NM_000179.2(MSH6):c.3699A>G (p.Lys1233=) http://identifiers.org/clinvar/234228 ^@ NM_000179.2(MSH6):c.3801+1G>T http://identifiers.org/clinvar/263519 ^@ NM_002474.2(MYH11):c.758C>T (p.Thr253Met) http://identifiers.org/clinvar/264377 ^@ NM_000169.2(GLA):c.295dupC (p.Gln99Profs) http://identifiers.org/clinvar/264685 ^@ NM_004082.4(DCTN1):c.156T>G (p.Phe52Leu) http://identifiers.org/clinvar/264742 ^@ NM_001242896.1(DEPDC5):c.3994C>T (p.Arg1332Ter) http://identifiers.org/clinvar/264897 ^@ NM_000059.3(BRCA2):c.1909+71T>C http://identifiers.org/clinvar/264947 ^@ NM_000059.3(BRCA2):c.6842-839dup http://identifiers.org/clinvar/264847 ^@ NM_007294.3(BRCA1):c.4185+3045del http://identifiers.org/clinvar/264797 ^@ NM_007294.3(BRCA1):c.81-2983dup http://identifiers.org/clinvar/264999 ^@ NM_173076.2(ABCA12):c.859C>T (p.Arg287Ter) http://identifiers.org/clinvar/265102 ^@ NM_004415.3(DSP):c.268C>T (p.Gln90Ter) http://identifiers.org/clinvar/265152 ^@ NM_001079802.1(FKTN):c.869A>T (p.Lys290Ile) http://identifiers.org/clinvar/265052 ^@ NM_007294.3(BRCA1):c.5296A>G (p.Ile1766Val) http://identifiers.org/clinvar/265203 ^@ NM_000214.2(JAG1):c.2096_2100delGAAAG (p.Gly699Aspfs) http://identifiers.org/clinvar/266968 ^@ NM_000059.3(BRCA2):c.664_665delCC (p.Pro222Serfs) http://identifiers.org/clinvar/267168 ^@ NM_000059.3(BRCA2):c.968_971delTAAG (p.Val323Glufs) http://identifiers.org/clinvar/266768 ^@ NM_000059.3(BRCA2):c.3724dupA (p.Ser1242Lysfs) http://identifiers.org/clinvar/266818 ^@ NM_000059.3(BRCA2):c.4513delA (p.Thr1505Profs) http://identifiers.org/clinvar/266868 ^@ NM_000059.3(BRCA2):c.5270_5273delATAA (p.Tyr1757Leufs) http://identifiers.org/clinvar/266918 ^@ NM_000059.3(BRCA2):c.6052_6053delAG (p.Ser2018Terfs) http://identifiers.org/clinvar/267018 ^@ NM_000059.3(BRCA2):c.7518delG (p.Gln2506Hisfs) http://identifiers.org/clinvar/267068 ^@ NM_000059.3(BRCA2):c.8316_8317dupAT (p.Ser2773Tyrfs) http://identifiers.org/clinvar/267118 ^@ NM_000059.3(BRCA2):c.8938A>T (p.Lys2980Ter) http://identifiers.org/clinvar/267238 ^@ NM_015247.2(CYLD):c.1684G>C (p.Ala562Pro) http://identifiers.org/clinvar/267307 ^@ NM_004937.2(CTNS):c.397A>T (p.Ile133Pro) http://identifiers.org/clinvar/267385 ^@ NG_009830.1:g.118063_118073delTGTGTAATACAins6 http://identifiers.org/clinvar/267439 ^@ NM_017780.3(CHD7):c.7952A>G (p.Asn2651Ser) http://identifiers.org/clinvar/267675 ^@ NM_000059.3(BRCA2):c.7008-?_9256+?[3] http://identifiers.org/clinvar/267725 ^@ NM_000059.3(BRCA2):c.9501+1G>T http://identifiers.org/clinvar/267625 ^@ NM_007294.3(BRCA1):c.81-?_5193+?del http://identifiers.org/clinvar/267575 ^@ NM_007294.3(BRCA1):c.5075-2del http://identifiers.org/clinvar/267525 ^@ NM_007294.3(BRCA1):c.4185+2T>C http://identifiers.org/clinvar/267804 ^@ 46;XX;ins(3;1)(q23;p22p32)dn http://identifiers.org/clinvar/267855 ^@ 46;XX;inv(18)(q11.2q23)dn http://identifiers.org/clinvar/267905 ^@ 46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn http://identifiers.org/clinvar/267955 ^@ 46;XX;t(3;14)(q25;q11.2)dn http://identifiers.org/clinvar/268005 ^@ 46;XX;t(8;14)(q21.2;q12)dn http://identifiers.org/clinvar/268058 ^@ NC_000016.9:g.(?_28484556)_(29043450_?)del http://identifiers.org/clinvar/268121 ^@ NM_144772.2(NAXE):c.653A>T (p.Asp218Val) http://identifiers.org/clinvar/268189 ^@ NC_000016.9:g.(?_81838176)_(82450270_?)dup http://identifiers.org/clinvar/279601 ^@ NM_000425.4(L1CAM):c.1615T>G (p.Cys539Gly) http://identifiers.org/clinvar/280721 ^@ NM_006623.3(PHGDH):c.290+2T>C http://identifiers.org/clinvar/280571 ^@ NM_002016.1(FLG):c.11452C>T (p.Gln3818Ter) http://identifiers.org/clinvar/291147 ^@ NM_000392.4(ABCC2):c.469-9T>C http://identifiers.org/clinvar/291198 ^@ NM_024408.3(NOTCH2):c.6893G>A (p.Arg2298Gln) http://identifiers.org/clinvar/291248 ^@ NM_003742.2(ABCB11):c.1752G>A (p.Met584Ile) http://identifiers.org/clinvar/291311 ^@ NM_012210.3(TRIM32):c.1365_1366dupTA (p.Thr456Ilefs) http://identifiers.org/clinvar/291413 ^@ NM_001918.3(DBT):c.*4377C>G http://identifiers.org/clinvar/291463 ^@ NM_015074.3(KIF1B):c.-16_-15dupTA http://identifiers.org/clinvar/291513 ^@ NM_015074.3(KIF1B):c.1159G>A (p.Asp387Asn) http://identifiers.org/clinvar/291563 ^@ NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) http://identifiers.org/clinvar/292155 ^@ NM_005957.4(MTHFR):c.*4506T>G http://identifiers.org/clinvar/292005 ^@ NM_138959.2(VANGL1):c.346G>A (p.Ala116Thr) http://identifiers.org/clinvar/292205 ^@ NM_005957.4(MTHFR):c.*1531C>T http://identifiers.org/clinvar/292505 ^@ NM_004698.2(PRPF3):c.1906-15A>C http://identifiers.org/clinvar/292605 ^@ NM_000449.3(RFX5):c.*283A>G http://identifiers.org/clinvar/292305 ^@ NM_000302.3(PLOD1):c.1633G>A (p.Gly545Arg) http://identifiers.org/clinvar/292055 ^@ NM_138959.2(VANGL1):c.*2541G>A http://identifiers.org/clinvar/292105 ^@ NM_138959.2(VANGL1):c.*6199A>T http://identifiers.org/clinvar/292555 ^@ NM_019032.5(ADAMTSL4):c.2559+9G>A http://identifiers.org/clinvar/292855 ^@ NM_022367.3(SEMA4A):c.2134G>A (p.Ala712Thr) http://identifiers.org/clinvar/292255 ^@ NM_000198.3(HSD3B2):c.13T>A (p.Cys5Ser) http://identifiers.org/clinvar/292355 ^@ NM_000302.3(PLOD1):c.*148C>G http://identifiers.org/clinvar/292805 ^@ NM_000298.5(PKLR):c.1686C>T (p.Ser562=) http://identifiers.org/clinvar/293005 ^@ NM_003126.2(SPTA1):c.3037-14T>C http://identifiers.org/clinvar/293155 ^@ NM_000702.3(ATP1A2):c.*870G>A http://identifiers.org/clinvar/292455 ^@ NM_005266.6(GJA5):c.-51G>C http://identifiers.org/clinvar/293355 ^@ NM_003001.3(SDHC):c.*1699A>G http://identifiers.org/clinvar/292905 ^@ NM_007272.2(CTRC):c.46A>G (p.Ser16Gly) http://identifiers.org/clinvar/292655 ^@ NM_152263.3(TPM3):c.*2784C>T http://identifiers.org/clinvar/292755 ^@ NM_001111.4(ADAR):c.*110dupT http://identifiers.org/clinvar/292705 ^@ NM_006118.3(HAX1):c.358C>T (p.Arg120Trp) http://identifiers.org/clinvar/293755 ^@ NM_000639.2(FASLG):c.*725A>G http://identifiers.org/clinvar/293855 ^@ NM_033343.3(LHX4):c.-121T>G http://identifiers.org/clinvar/293055 ^@ NM_003126.2(SPTA1):c.345G>A (p.Arg115=) http://identifiers.org/clinvar/292955 ^@ NM_003126.2(SPTA1):c.6233T>A (p.Ile2078Asn) http://identifiers.org/clinvar/293205 ^@ NM_002857.3(PEX19):c.*1592G>A http://identifiers.org/clinvar/293105 ^@ NM_002241.4(KCNJ10):c.*1165G>A http://identifiers.org/clinvar/293255 ^@ NM_000309.3(PPOX):c.911G>A (p.Arg304His) http://identifiers.org/clinvar/293305 ^@ NM_000530.7(MPZ):c.*743C>T http://identifiers.org/clinvar/293405 ^@ NM_004431.4(EPHA2):c.2919G>A (p.Gly973=) http://identifiers.org/clinvar/294844 ^@ NM_001005337.2(PKP1):c.*417G>A http://identifiers.org/clinvar/293805 ^@ NM_022089.3(ATP13A2):c.-151C>T http://identifiers.org/clinvar/294794 ^@ NM_000069.2(CACNA1S):c.-213G>A http://identifiers.org/clinvar/293705 ^@ NM_000261.1(MYOC):c.*188C>T http://identifiers.org/clinvar/294944 ^@ NM_003465.2(CHIT1):c.-13G>A http://identifiers.org/clinvar/295144 ^@ NM_000228.2(LAMB3):c.267C>T (p.Ser89=) http://identifiers.org/clinvar/295044 ^@ NM_005216.4(DDOST):c.*574T>A http://identifiers.org/clinvar/336210 ^@ NM_000341.3(SLC3A1):c.1742T>G (p.Val581Gly) http://identifiers.org/clinvar/344186 ^@ NM_198407.2(GHSR):c.*834C>A http://identifiers.org/clinvar/336260 ^@ NM_001430.4(EPAS1):c.1104G>A (p.Met368Ile) http://identifiers.org/clinvar/343386 ^@ NM_153240.4(NPHP3):c.1853T>C (p.Ile618Thr) http://identifiers.org/clinvar/343436 ^@ NM_001063.3(TF):c.624G>A (p.Ser208=) http://identifiers.org/clinvar/336310 ^@ NM_001430.4(EPAS1):c.*1247dupG http://identifiers.org/clinvar/344436 ^@ NM_003722.4(TP63):c.*2625A>T http://identifiers.org/clinvar/343536 ^@ NM_024334.2(TMEM43):c.*1424T>C http://identifiers.org/clinvar/344536 ^@ NM_000461.4(THRB):c.*5429C>G http://identifiers.org/clinvar/336517 ^@ NM_001135659.2(NRXN1):c.*1524T>G http://identifiers.org/clinvar/336160 ^@ NM_133259.3(LRPPRC):c.1677+7C>T http://identifiers.org/clinvar/343886 ^@ NM_004733.3(SLC33A1):c.-33C>G http://identifiers.org/clinvar/343986 ^@ NM_020800.2(IFT80):c.-98G>C http://identifiers.org/clinvar/336717 ^@ NM_032180.2(FAM161A):c.*1136G>T http://identifiers.org/clinvar/336360 ^@ NM_139279.5(MCFD2):c.*1267G>T http://identifiers.org/clinvar/344136 ^@ NM_000340.1(SLC2A2):c.*1260A>G http://identifiers.org/clinvar/336567 ^@ NM_001135659.2(NRXN1):c.-465T>C http://identifiers.org/clinvar/344336 ^@ NM_003907.2(EIF2B5):c.1529T>G (p.Leu510Arg) http://identifiers.org/clinvar/336867 ^@ NM_002056.3(GFPT1):c.*186G>T http://identifiers.org/clinvar/337167 ^@ NM_003849.3(SUCLG1):c.-107A>G http://identifiers.org/clinvar/337017 ^@ NM_015120.4(ALMS1):c.5934G>C (p.Lys1978Asn) http://identifiers.org/clinvar/337067 ^@ NM_004082.4(DCTN1):c.3782G>A (p.Arg1261Gln) http://identifiers.org/clinvar/337117 ^@ NM_013247.4(HTRA2):c.-547G>C http://identifiers.org/clinvar/337267 ^@ NM_000821.6(GGCX):c.1107C>T (p.Leu369=) http://identifiers.org/clinvar/337367 ^@ NM_022912.2(REEP1):c.*2053delC http://identifiers.org/clinvar/337567 ^@ NM_014014.4(SNRNP200):c.210-11A>T http://identifiers.org/clinvar/337617 ^@ NM_020184.3(CNNM4):c.*1990T>A http://identifiers.org/clinvar/337517 ^@ NM_014014.4(SNRNP200):c.*333G>A http://identifiers.org/clinvar/342397 ^@ NM_000551.3(VHL):c.-195G>A http://identifiers.org/clinvar/342347 ^@ NM_016247.3(IMPG2):c.1908T>C (p.Asp636=) http://identifiers.org/clinvar/342547 ^@ NM_198196.2(CD96):c.1670T>G (p.Phe557Cys) http://identifiers.org/clinvar/342497 ^@ NM_000551.3(VHL):c.*3249C>T http://identifiers.org/clinvar/347235 ^@ NM_001963.5(EGF):c.1313-10G>T http://identifiers.org/clinvar/347285 ^@ NM_001963.5(EGF):c.*1266T>A http://identifiers.org/clinvar/347335 ^@ NM_001148.4(ANK2):c.8395G>A (p.Asp2799Asn) http://identifiers.org/clinvar/347385 ^@ NM_003619.3(PRSS12):c.*264_*267delCCTA http://identifiers.org/clinvar/347535 ^@ NM_152778.2(MFSD8):c.*469dupA http://identifiers.org/clinvar/347835 ^@ NM_000509.5(FGG):c.-130G>T http://identifiers.org/clinvar/343336 ^@ NM_014382.3(ATP2C1):c.*350delT http://identifiers.org/clinvar/343486 ^@ NM_020191.2(MRPS22):c.340-14T>A http://identifiers.org/clinvar/343236 ^@ NM_052985.3(IFT122):c.1091G>A (p.Arg364Gln) http://identifiers.org/clinvar/343286 ^@ NM_000539.3(RHO):c.*140delT http://identifiers.org/clinvar/348085 ^@ NM_012224.2(NEK1):c.*165G>A http://identifiers.org/clinvar/343586 ^@ NM_001184.3(ATR):c.6259A>G (p.Met2087Val) http://identifiers.org/clinvar/348135 ^@ NM_012224.2(NEK1):c.-614C>A http://identifiers.org/clinvar/348185 ^@ NM_000860.5(HPGD):c.*798delA http://identifiers.org/clinvar/343786 ^@ NM_000096.3(CP):c.508G>A (p.Gly170Arg) http://identifiers.org/clinvar/348335 ^@ NM_207352.3(CYP4V2):c.*1056_*1057insCATACA http://identifiers.org/clinvar/343636 ^@ NM_000935.2(PLOD2):c.*809T>C http://identifiers.org/clinvar/343936 ^@ NM_024996.5(GFM1):c.1831C>T (p.Leu611=) http://identifiers.org/clinvar/354002 ^@ NM_001104631.1(PDE4D):c.-126A>G http://identifiers.org/clinvar/354052 ^@ NM_017755.5(NSUN2):c.2006A>G (p.Asp669Gly) http://identifiers.org/clinvar/353702 ^@ NM_000163.4(GHR):c.*913C>T http://identifiers.org/clinvar/354202 ^@ NM_003719.3(PDE8B):c.*901A>G http://identifiers.org/clinvar/362290 ^@ NM_003923.2(FOXH1):c.-446T>C http://identifiers.org/clinvar/362340 ^@ NM_006765.3(TUSC3):c.*2052A>C http://identifiers.org/clinvar/354152 ^@ NM_003719.3(PDE8B):c.552T>C (p.His184=) http://identifiers.org/clinvar/354402 ^@ NM_004385.4(VCAN):c.2065A>G (p.Thr689Ala) http://identifiers.org/clinvar/362540 ^@ NM_005144.4(HR):c.-443G>C http://identifiers.org/clinvar/354502 ^@ NM_002890.2(RASA1):c.-179A>C http://identifiers.org/clinvar/354352 ^@ NM_002454.2(MTRR):c.505G>A (p.Val169Met) http://identifiers.org/clinvar/362690 ^@ NM_000742.3(CHRNA2):c.*285G>C http://identifiers.org/clinvar/362790 ^@ NM_000553.4(WRN):c.-209T>G http://identifiers.org/clinvar/354652 ^@ NM_000439.4(PCSK1):c.397-10T>C http://identifiers.org/clinvar/362840 ^@ NM_000349.2(STAR):c.*230A>G http://identifiers.org/clinvar/363040 ^@ NM_000037.3(ANK1):c.909+9T>C http://identifiers.org/clinvar/359241 ^@ NM_014141.5(CNTNAP2):c.*2935_*2936delAA http://identifiers.org/clinvar/354702 ^@ NM_001491.2(GCNT2):c.303C>T (p.Ile101=) http://identifiers.org/clinvar/363090 ^@ NM_006749.4(SLC20A2):c.345G>A (p.Thr115=) http://identifiers.org/clinvar/363140 ^@ NM_152419.2(HGSNAT):c.234+14C>G http://identifiers.org/clinvar/354802 ^@ NM_001242957.2(MAK):c.807A>G (p.Pro269=) http://identifiers.org/clinvar/359541 ^@ NM_001101426.3(ISPD):c.*2211G>A http://identifiers.org/clinvar/355403 ^@ NM_006208.2(ENPP1):c.*2282G>A http://identifiers.org/clinvar/359741 ^@ NM_032581.3(FAM126A):c.*1812C>A http://identifiers.org/clinvar/355253 ^@ NM_000426.3(LAMA2):c.1715C>T (p.Ala572Val) http://identifiers.org/clinvar/360191 ^@ NM_000168.5(GLI3):c.*1296T>C http://identifiers.org/clinvar/364529 ^@ NM_001079802.1(FKTN):c.*5356C>T http://identifiers.org/clinvar/360441 ^@ NM_000790.3(DDC):c.234C>T (p.Ala78=) http://identifiers.org/clinvar/364679 ^@ NM_015404.3(WHRN):c.2383C>T (p.Arg795Trp) http://identifiers.org/clinvar/360591 ^@ NM_153033.4(KCTD7):c.*221G>T http://identifiers.org/clinvar/364879 ^@ NM_002316.3(LMX1B):c.552C>T (p.Ser184=) http://identifiers.org/clinvar/364929 ^@ NM_002316.3(LMX1B):c.*1473G>A http://identifiers.org/clinvar/360691 ^@ NM_000941.2(POR):c.87G>A (p.Thr29=) http://identifiers.org/clinvar/365129 ^@ NM_001003722.1(GLE1):c.-51G>A http://identifiers.org/clinvar/365179 ^@ NM_001130438.2(SPTAN1):c.6876C>T (p.Thr2292=) http://identifiers.org/clinvar/360991 ^@ NM_003919.2(SGCE):c.712G>C (p.Glu238Gln) http://identifiers.org/clinvar/365329 ^@ NM_015046.5(SETX):c.*562C>A http://identifiers.org/clinvar/361141 ^@ NM_015713.4(RRM2B):c.*2675A>G http://identifiers.org/clinvar/365429 ^@ NM_000368.4(TSC1):c.*3047C>A http://identifiers.org/clinvar/365629 ^@ NM_014694.3(ADAMTSL2):c.*635G>T http://identifiers.org/clinvar/365779 ^@ NM_000093.4(COL5A1):c.*1788G>A http://identifiers.org/clinvar/365879 ^@ NM_019892.5(INPP5E):c.1730C>G (p.Pro577Arg) http://identifiers.org/clinvar/366619 ^@ NM_001497.3(B4GALT1):c.*1890delT http://identifiers.org/clinvar/311130 ^@ NM_001846.3(COL4A2):c.1655C>A (p.Thr552Lys) http://identifiers.org/clinvar/366669 ^@ NM_001497.3(B4GALT1):c.-101C>T http://identifiers.org/clinvar/367169 ^@ NM_000170.2(GLDC):c.*115A>T http://identifiers.org/clinvar/366719 ^@ NM_007126.3(VCP):c.927C>T (p.Ile309=) http://identifiers.org/clinvar/303271 ^@ NM_022370.3(ROBO3):c.3593G>A (p.Arg1198His) http://identifiers.org/clinvar/303421 ^@ NM_016952.4(CDON):c.*2373_*2378delCACATA http://identifiers.org/clinvar/366919 ^@ NM_001042413.1(GLIS3):c.*2191G>A http://identifiers.org/clinvar/367498 ^@ NM_004560.3(ROR2):c.2212C>T (p.Arg738Cys) http://identifiers.org/clinvar/366969 ^@ NM_203447.3(DOCK8):c.3220C>A (p.His1074Asn) http://identifiers.org/clinvar/311769 ^@ NM_015087.4(SPG20):c.686A>G (p.Gln229Arg) http://identifiers.org/clinvar/303721 ^@ NM_000525.3(KCNJ11):c.*487A>G http://identifiers.org/clinvar/311819 ^@ NM_001127217.2(SMAD9):c.*3558_*3563delTATACA http://identifiers.org/clinvar/367119 ^@ NM_004972.3(JAK2):c.-42C>T http://identifiers.org/clinvar/303871 ^@ NM_181507.1(HPS5):c.2838-13T>C http://identifiers.org/clinvar/364129 ^@ NM_004612.3(TGFBR1):c.*1959G>T http://identifiers.org/clinvar/312069 ^@ NM_207361.5(FREM2):c.*2375C>G http://identifiers.org/clinvar/303971 ^@ NM_006757.3(TNNT3):c.417C>T (p.Asp139=) http://identifiers.org/clinvar/312119 ^@ NM_207361.5(FREM2):c.*6148_*6151delCATT http://identifiers.org/clinvar/367348 ^@ NM_033305.2(VPS13A):c.981C>T (p.Ala327=) http://identifiers.org/clinvar/304021 ^@ NM_004211.4(SLC6A5):c.1288T>A (p.Tyr430Asn) http://identifiers.org/clinvar/298593 ^@ NM_016169.3(SUFU):c.*1675G>A http://identifiers.org/clinvar/367448 ^@ NM_033305.2(VPS13A):c.*1248_*1251dupAACT http://identifiers.org/clinvar/367548 ^@ NM_006415.3(SPTLC1):c.985-5C>T http://identifiers.org/clinvar/304271 ^@ NM_000218.2(KCNQ1):c.*1055C>T http://identifiers.org/clinvar/312469 ^@ NM_000115.4(EDNRB):c.1194+15C>T http://identifiers.org/clinvar/312619 ^@ NM_001376.4(DYNC1H1):c.432G>A (p.Ser144=) http://identifiers.org/clinvar/364079 ^@ NM_014290.2(TDRD7):c.2955A>G (p.Gly985=) http://identifiers.org/clinvar/298893 ^@ NM_004132.4(HABP2):c.-65C>G http://identifiers.org/clinvar/312869 ^@ NM_002471.3(MYH6):c.2540C>T (p.Thr847Met) http://identifiers.org/clinvar/298543 ^@ NM_022039.3(FBXW4):c.-29G>A http://identifiers.org/clinvar/312969 ^@ NM_000359.2(TGM1):c.*90T>C http://identifiers.org/clinvar/298643 ^@ NM_017649.4(CNNM2):c.1622-6C>T http://identifiers.org/clinvar/298943 ^@ NM_004132.4(HABP2):c.*1088T>C http://identifiers.org/clinvar/299043 ^@ NM_002775.4(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer) http://identifiers.org/clinvar/299143 ^@ NM_001609.3(ACADSB):c.*3234C>G http://identifiers.org/clinvar/305212 ^@ NM_000543.4(SMPD1):c.*294G>C http://identifiers.org/clinvar/305512 ^@ NM_000391.3(TPP1):c.887-6delA http://identifiers.org/clinvar/299593 ^@ NM_201590.2(CACNB2):c.*622_*623dupAT http://identifiers.org/clinvar/314758 ^@ NM_000153.3(GALC):c.318G>A (p.Gly106=) http://identifiers.org/clinvar/299643 ^@ NM_017433.4(MYO3A):c.-18G>A http://identifiers.org/clinvar/314958 ^@ NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) http://identifiers.org/clinvar/306125 ^@ NM_001235.3(SERPINH1):c.*668A>T http://identifiers.org/clinvar/315458 ^@ NM_000275.2(OCA2):c.*21G>A http://identifiers.org/clinvar/315508 ^@ NM_002420.5(TRPM1):c.2476G>A (p.Ala826Thr) http://identifiers.org/clinvar/315558 ^@ NM_133647.1(SLC12A6):c.*2909delT http://identifiers.org/clinvar/315608 ^@ NM_133647.1(SLC12A6):c.2565G>A (p.Thr855=) http://identifiers.org/clinvar/306426 ^@ NM_001814.5(CTSC):c.729C>T (p.Ile243=) http://identifiers.org/clinvar/315708 ^@ NM_005159.4(ACTC1):c.809-16_809-13delTGTG http://identifiers.org/clinvar/315808 ^@ NM_002225.3(IVD):c.*290dupT http://identifiers.org/clinvar/315158 ^@ NM_139057.3(ADAMTS17):c.*2183G>A http://identifiers.org/clinvar/317698 ^@ NM_000246.3(CIITA):c.1731C>T (p.Tyr577=) http://identifiers.org/clinvar/311180 ^@ NM_001846.3(COL4A2):c.4515A>G (p.Pro1505=) http://identifiers.org/clinvar/317998 ^@ NM_014714.3(IFT140):c.3743T>C (p.Ile1248Thr) http://identifiers.org/clinvar/329670 ^@ NM_025136.3(OPA3):c.*649C>T http://identifiers.org/clinvar/329720 ^@ NM_000554.5(CRX):c.*754_*756dupTTT http://identifiers.org/clinvar/329820 ^@ NM_002103.4(GYS1):c.942-9G>A http://identifiers.org/clinvar/329920 ^@ NM_024729.3(MYH14):c.2156A>G (p.Asn719Ser) http://identifiers.org/clinvar/310325 ^@ NM_000619.2(IFNG):c.-2C>A http://identifiers.org/clinvar/330270 ^@ NM_000064.3(C3):c.4896C>T (p.Pro1632=) http://identifiers.org/clinvar/311919 ^@ NM_001127217.2(SMAD9):c.-258T>C http://identifiers.org/clinvar/330320 ^@ NM_000064.3(C3):c.1758G>A (p.Glu586=) http://identifiers.org/clinvar/310525 ^@ NM_018979.3(WNK1):c.-263C>A http://identifiers.org/clinvar/310575 ^@ NM_020661.3(AICDA):c.*89A>C http://identifiers.org/clinvar/310830 ^@ NM_018979.3(WNK1):c.4564G>A (p.Val1522Met) http://identifiers.org/clinvar/306676 ^@ NM_018979.3(WNK1):c.*628delA http://identifiers.org/clinvar/312269 ^@ NM_003850.2(SUCLA2):c.517A>G (p.Met173Val) http://identifiers.org/clinvar/310880 ^@ NM_004115.3(FGF14):c.*919_*922dupGATT http://identifiers.org/clinvar/312519 ^@ NM_052910.2(SLITRK1):c.-551A>G http://identifiers.org/clinvar/319439 ^@ NM_022162.2(NOD2):c.859C>T (p.His287Tyr) http://identifiers.org/clinvar/311030 ^@ NM_001845.5(COL4A1):c.4010C>T (p.Pro1337Leu) http://identifiers.org/clinvar/312569 ^@ NM_005708.4(GPC6):c.*854A>T http://identifiers.org/clinvar/312669 ^@ NM_001376.4(DYNC1H1):c.*108G>A http://identifiers.org/clinvar/312769 ^@ NM_001145.4(ANG):c.-237A>C http://identifiers.org/clinvar/319890 ^@ NM_000339.2(SLC12A3):c.286G>A (p.Glu96Lys) http://identifiers.org/clinvar/320090 ^@ NM_001297.4(CNGB1):c.1643+13delT http://identifiers.org/clinvar/313019 ^@ NM_025152.2(NUBPL):c.46C>T (p.Arg16Trp) http://identifiers.org/clinvar/320240 ^@ NM_001793.5(CDH3):c.1430G>A (p.Arg477His) http://identifiers.org/clinvar/338857 ^@ NM_144773.3(PROKR2):c.819G>A (p.Thr273=) http://identifiers.org/clinvar/338907 ^@ NM_002591.3(PCK1):c.*382_*393dupTGTGTGTGTGTG http://identifiers.org/clinvar/320440 ^@ NM_001361.4(DHODH):c.1009A>T (p.Ser337Cys) http://identifiers.org/clinvar/320490 ^@ NM_024306.4(FA2H):c.*34G>A http://identifiers.org/clinvar/320540 ^@ NM_021615.4(CHST6):c.*3082G>A http://identifiers.org/clinvar/339357 ^@ NM_025219.2(DNAJC5):c.438G>A (p.Thr146=) http://identifiers.org/clinvar/311969 ^@ NM_207361.5(FREM2):c.3979T>A (p.Leu1327Ile) http://identifiers.org/clinvar/312019 ^@ NM_207361.5(FREM2):c.7663G>T (p.Val2555Leu) http://identifiers.org/clinvar/339557 ^@ NM_000933.3(PLCB4):c.833A>T (p.Asp278Val) http://identifiers.org/clinvar/312219 ^@ NM_014252.3(SLC25A15):c.*2494G>A http://identifiers.org/clinvar/312419 ^@ NM_001004127.2(ALG11):c.*277G>T http://identifiers.org/clinvar/328431 ^@ NM_173483.3(CYP4F22):c.532A>T (p.Ser178Cys) http://identifiers.org/clinvar/367748 ^@ NM_002294.2(LAMP2):c.*3468_*3470delGTT http://identifiers.org/clinvar/328531 ^@ NM_000453.2(SLC5A5):c.-36C>T http://identifiers.org/clinvar/367798 ^@ NM_001167.3(XIAP):c.*253C>T http://identifiers.org/clinvar/328681 ^@ NM_001031726.3(C19orf12):c.*2621C>T http://identifiers.org/clinvar/328781 ^@ NM_000285.3(PEPD):c.*52T>C http://identifiers.org/clinvar/328831 ^@ NM_001037.4(SCN1B):c.-93G>C http://identifiers.org/clinvar/328931 ^@ NM_001083961.1(WDR62):c.4266C>T (p.His1422=) http://identifiers.org/clinvar/328981 ^@ NM_033064.4(ATCAY):c.-390A>G http://identifiers.org/clinvar/327781 ^@ NM_005786.5(TSHZ1):c.-267A>G http://identifiers.org/clinvar/327831 ^@ NM_005786.5(TSHZ1):c.1849_1851delGAG (p.Glu617del) http://identifiers.org/clinvar/327881 ^@ NM_001130823.2(DNMT1):c.*274T>C http://identifiers.org/clinvar/327981 ^@ NM_001005360.2(DNM2):c.1423-12G>A http://identifiers.org/clinvar/328081 ^@ NM_000527.4(LDLR):c.*994C>T http://identifiers.org/clinvar/330020 ^@ NM_144687.3(NLRP12):c.2442G>A (p.Gly814=) http://identifiers.org/clinvar/328331 ^@ NM_000159.3(GCDH):c.852+5G>A http://identifiers.org/clinvar/330420 ^@ NM_000208.3(INSR):c.*541dupT http://identifiers.org/clinvar/328581 ^@ NM_005535.2(IL12RB1):c.1450C>T (p.Arg484Cys) http://identifiers.org/clinvar/330570 ^@ NM_030957.3(ADAMTS10):c.*411C>T http://identifiers.org/clinvar/328731 ^@ NM_001031726.3(C19orf12):c.101C>T (p.Ala34Val) http://identifiers.org/clinvar/329520 ^@ NM_000400.3(ERCC2):c.946C>G (p.Gln316Glu) http://identifiers.org/clinvar/329570 ^@ NM_025136.3(OPA3):c.*6208C>T http://identifiers.org/clinvar/329620 ^@ NM_025136.3(OPA3):c.*3722G>A http://identifiers.org/clinvar/338606 ^@ NM_030777.3(SLC2A10):c.*269delA http://identifiers.org/clinvar/338807 ^@ NM_000782.4(CYP24A1):c.*80A>G http://identifiers.org/clinvar/329870 ^@ NM_017636.3(TRPM4):c.2982G>A (p.Ser994=) http://identifiers.org/clinvar/339057 ^@ NM_001001433.2(STX16):c.907C>G (p.Leu303Val) http://identifiers.org/clinvar/339157 ^@ NM_207034.2(EDN3):c.*1111G>A http://identifiers.org/clinvar/329970 ^@ NM_030657.3(LIM2):c.*218C>G http://identifiers.org/clinvar/339257 ^@ NM_017671.4(FERMT1):c.-646G>C http://identifiers.org/clinvar/339407 ^@ NM_025219.2(DNAJC5):c.*2601C>T http://identifiers.org/clinvar/330220 ^@ NM_001256714.1(DNAAF3):c.137+10G>A http://identifiers.org/clinvar/339507 ^@ NM_015192.3(PLCB1):c.1888+11G>A http://identifiers.org/clinvar/330370 ^@ NM_000208.3(INSR):c.*3298C>T http://identifiers.org/clinvar/339607 ^@ NM_000933.3(PLCB4):c.*955T>C http://identifiers.org/clinvar/339707 ^@ NM_000628.4(IL10RB):c.*615_*616delAA http://identifiers.org/clinvar/338556 ^@ NM_004994.2(MMP9):c.1331-11T>A http://identifiers.org/clinvar/338656 ^@ NM_000311.4(PRNP):c.*115G>A http://identifiers.org/clinvar/338706 ^@ NM_006420.2(ARFGEF2):c.5105C>T (p.Ser1702Phe) http://identifiers.org/clinvar/338757 ^@ NM_003859.2(DPM1):c.84G>A (p.Ser28=) http://identifiers.org/clinvar/341147 ^@ NM_000268.3(NF2):c.*2408G>A http://identifiers.org/clinvar/341347 ^@ NM_000362.4(TIMP3):c.516C>T (p.Phe172=) http://identifiers.org/clinvar/341397 ^@ NM_000362.4(TIMP3):c.*2844C>T http://identifiers.org/clinvar/339457 ^@ NM_012469.3(PRPF6):c.-78G>A http://identifiers.org/clinvar/341447 ^@ NM_004737.5(LARGE1):c.-334G>A http://identifiers.org/clinvar/341497 ^@ NM_002473.5(MYH9):c.4955G>A (p.Arg1652His) http://identifiers.org/clinvar/339657 ^@ NM_000484.3(APP):c.-186G>T http://identifiers.org/clinvar/339757 ^@ NM_000219.5(KCNE1):c.*923G>A http://identifiers.org/clinvar/339807 ^@ NM_001754.4(RUNX1):c.*3444A>G http://identifiers.org/clinvar/342047 ^@ NM_024105.3(ALG12):c.910C>T (p.Leu304Phe) http://identifiers.org/clinvar/388848 ^@ NM_012470.3(TNPO3):c.2061+17C>A http://identifiers.org/clinvar/381805 ^@ NM_007055.3(POLR3A):c.171C>G (p.Asp57Glu) http://identifiers.org/clinvar/379661 ^@ NM_004329.2(BMPR1A):c.676-12T>C http://identifiers.org/clinvar/383658 ^@ NM_001613.2(ACTA2):c.623G>A (p.Arg208His) http://identifiers.org/clinvar/378961 ^@ NM_000136.2(FANCC):c.516A>G (p.Gln172=) http://identifiers.org/clinvar/390637 ^@ NM_017617.4(NOTCH1):c.6083-15G>C http://identifiers.org/clinvar/389148 ^@ NM_001134363.2(RBM20):c.2736C>T (p.Asp912=) http://identifiers.org/clinvar/384498 ^@ NM_213599.2(ANO5):c.1962A>G (p.Arg654=) http://identifiers.org/clinvar/381404 ^@ NM_000443.3(ABCB4):c.2952A>G (p.Ala984=) http://identifiers.org/clinvar/391237 ^@ NM_000136.2(FANCC):c.-23A>G http://identifiers.org/clinvar/381554 ^@ NM_000043.5(FAS):c.785T>A (p.Ile262Asn) http://identifiers.org/clinvar/380954 ^@ NM_024531.4(SLC52A2):c.915C>T (p.Tyr305=) http://identifiers.org/clinvar/377512 ^@ NM_000051.3(ATM):c.3402+5T>C http://identifiers.org/clinvar/379211 ^@ NM_017780.3(CHD7):c.8250T>G (p.Phe2750Leu) http://identifiers.org/clinvar/388798 ^@ NM_000051.3(ATM):c.-47A>G http://identifiers.org/clinvar/384999 ^@ NM_000035.3(ALDOB):c.799+11C>T http://identifiers.org/clinvar/380012 ^@ NM_001278503.1(STT3A):c.52T>C (p.Leu18=) http://identifiers.org/clinvar/381754 ^@ NM_004517.3(ILK):c.219G>C (p.Leu73=) http://identifiers.org/clinvar/390537 ^@ NM_001909.4(CTSD):c.-32C>T http://identifiers.org/clinvar/378559 ^@ NM_014191.3(SCN8A):c.1770G>A (p.Thr590=) http://identifiers.org/clinvar/390437 ^@ NM_005472.4(KCNE3):c.48C>T (p.Ala16=) http://identifiers.org/clinvar/389598 ^@ NM_006231.3(POLE):c.5568C>T (p.Phe1856=) http://identifiers.org/clinvar/380212 ^@ NM_006231.3(POLE):c.3156G>A (p.Thr1052=) http://identifiers.org/clinvar/379011 ^@ NM_000059.3(BRCA2):c.8568G>A (p.Glu2856=) http://identifiers.org/clinvar/391387 ^@ NM_006231.3(POLE):c.6111C>T (p.Ala2037=) http://identifiers.org/clinvar/379912 ^@ NM_005249.4(FOXG1):c.460G>T (p.Glu154Ter) http://identifiers.org/clinvar/379611 ^@ NM_003482.3(KMT2D):c.16522-1G>A http://identifiers.org/clinvar/381454 ^@ NM_004990.3(MARS):c.1500A>G (p.Lys500=) http://identifiers.org/clinvar/381905 ^@ NM_000138.4(FBN1):c.5296+12C>T http://identifiers.org/clinvar/377562 ^@ NM_004329.2(BMPR1A):c.-262T>C http://identifiers.org/clinvar/393076 ^@ NM_000051.3(ATM):c.-30-15G>A http://identifiers.org/clinvar/378911 ^@ NM_000059.3(BRCA2):c.6842-12A>G http://identifiers.org/clinvar/391437 ^@ NM_025152.2(NUBPL):c.422+13A>G http://identifiers.org/clinvar/390987 ^@ NM_001376.4(DYNC1H1):c.11532G>A (p.Pro3844=) http://identifiers.org/clinvar/381054 ^@ NM_130838.1(UBE3A):c.-33012G>A http://identifiers.org/clinvar/388348 ^@ NM_133647.1(SLC12A6):c.-17T>G http://identifiers.org/clinvar/382155 ^@ NM_020778.4(ALPK3):c.24T>C (p.Tyr8=) http://identifiers.org/clinvar/379361 ^@ NM_020778.4(ALPK3):c.911-18C>A http://identifiers.org/clinvar/384398 ^@ NM_000814.5(GABRB3):c.648C>T (p.His216=) http://identifiers.org/clinvar/389448 ^@ NM_001271.3(CHD2):c.3456-20C>G http://identifiers.org/clinvar/391487 ^@ NM_015335.4(MED13L):c.2605C>A (p.Pro869Thr) http://identifiers.org/clinvar/66 ^@ NM_000374.4(UROD):c.842G>A (p.Gly281Glu) http://identifiers.org/clinvar/76 ^@ NM_000374.4(UROD):c.995G>A (p.Arg332His) http://identifiers.org/clinvar/91 ^@ NM_004315.5(ASAH1):c.713C>A (p.Thr238Lys) http://identifiers.org/clinvar/253 ^@ NM_004628.4(XPC):c.1001C>A (p.Pro334His) http://identifiers.org/clinvar/332 ^@ NF1, ALU INS http://identifiers.org/clinvar/469 ^@ NM_000035.3(ALDOB):c.1005C>G (p.Asn335Lys) http://identifiers.org/clinvar/478 ^@ NM_000317.2(PTS):c.361_374delGTTCTTCCTGTAGG (p.Val121Serfs) http://identifiers.org/clinvar/519 ^@ NM_001999.3(FBN2):c.3758G>A (p.Cys1253Tyr) http://identifiers.org/clinvar/556 ^@ NM_000140.3(FECH):c.195_314del http://identifiers.org/clinvar/669 ^@ NM_000312.3(PROC):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/943 ^@ NM_000404.3(GLB1):c.1223A>C (p.Gln408Pro) http://identifiers.org/clinvar/1001 ^@ NM_152778.2(MFSD8):c.929G>A (p.Gly310Asp) http://identifiers.org/clinvar/1010 ^@ NM_001031710.2(KLHL7):c.457G>A (p.Ala153Thr) http://identifiers.org/clinvar/2438 ^@ NM_001173464.1(KIF21A):c.3029T>C (p.Ile1010Thr) http://identifiers.org/clinvar/2483 ^@ NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) http://identifiers.org/clinvar/2577 ^@ APOC2, IVS2, G-C, +1 http://identifiers.org/clinvar/2622 ^@ SIL1, 4-BP DUP, 506AAGA http://identifiers.org/clinvar/2669 ^@ NM_001164675.1(SUMF1):c.836C>T (p.Ala279Val) http://identifiers.org/clinvar/2715 ^@ FERMT1, 1-BP INS, 1714A http://identifiers.org/clinvar/2760 ^@ LEMD3, IVS1DS, G-A, +1 http://identifiers.org/clinvar/2805 ^@ CLN8, 1-BP DEL, 88G http://identifiers.org/clinvar/2850 ^@ NM_020184.3(CNNM4):c.1690C>T (p.Gln564Ter) http://identifiers.org/clinvar/2897 ^@ NM_000419.4(ITGA2B):c.1253G>A (p.Gly418Asp) http://identifiers.org/clinvar/2941 ^@ NM_001902.5(CTH):c.1208G>T (p.Ser403Ile) http://identifiers.org/clinvar/2988 ^@ NM_000543.4(SMPD1):c.1154A>G (p.Asn385Ser) http://identifiers.org/clinvar/3034 ^@ NM_000051.3(ATM):c.7988_7991delTTGT (p.Val2663Alafs) http://identifiers.org/clinvar/3081 ^@ NM_000487.5(ARSA):c.1114C>T (p.Arg372Trp) http://identifiers.org/clinvar/3130 ^@ NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC (p.Ala71_Pro73del) http://identifiers.org/clinvar/3181 ^@ NM_138477.2(CDAN1):c.1860+5G>A http://identifiers.org/clinvar/3226 ^@ NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) http://identifiers.org/clinvar/3275 ^@ CDC73, 1-BP INS, 373A http://identifiers.org/clinvar/10145 ^@ NM_000132.3(F8):c.1336C>T (p.Arg446Ter) http://identifiers.org/clinvar/10190 ^@ NM_000132.3(F8):c.881C>T (p.Thr294Ile) http://identifiers.org/clinvar/10235 ^@ NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) http://identifiers.org/clinvar/10280 ^@ NM_000132.3(F8):c.5526G>A (p.Met1842Ile) http://identifiers.org/clinvar/10325 ^@ NM_000132.3(F8):c.6682C>G (p.Arg2228Gly) http://identifiers.org/clinvar/10422 ^@ NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) http://identifiers.org/clinvar/10470 ^@ NM_000032.4(ALAS2):c.495C>A (p.Phe165Leu) http://identifiers.org/clinvar/10516 ^@ NM_000273.2(GPR143):c.397T>C (p.Trp133Arg) http://identifiers.org/clinvar/10561 ^@ F9, 1-BP DEL, +13A http://identifiers.org/clinvar/10606 ^@ NM_000133.3(F9):c.1009G>C (p.Ala337Pro) http://identifiers.org/clinvar/10651 ^@ NM_000133.3(F9):c.1228G>C (p.Asp410His) http://identifiers.org/clinvar/37126 ^@ NM_000367.4(TPMT):c.460G>A (p.Ala154Thr) http://identifiers.org/clinvar/13416 ^@ NM_000311.4(PRNP):c.380G>T (p.Gly127Val) http://identifiers.org/clinvar/36682 ^@ NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) http://identifiers.org/clinvar/36736 ^@ NM_001035.2(RYR2):c.1611G>A (p.Leu537=) http://identifiers.org/clinvar/36787 ^@ NM_139276.2(STAT3):c.1654-11C>G http://identifiers.org/clinvar/36837 ^@ NM_000458.3(HNF1B):c.1006C>T (p.His336Tyr) http://identifiers.org/clinvar/36888 ^@ NM_000366.5(TPM1):c.772+94_772+99delCGCTCCinsTT http://identifiers.org/clinvar/36957 ^@ NM_002501.3(NFIX):c.1011_1012delTC (p.Gln338Glyfs) http://identifiers.org/clinvar/37056 ^@ TCTN3, GLN480TER http://identifiers.org/clinvar/37258 ^@ NM_003036.3(SKI):c.347G>A (p.Gly116Glu) http://identifiers.org/clinvar/37413 ^@ NM_007294.3(BRCA1):c.1444_1447delATTA (p.Ile482Terfs) http://identifiers.org/clinvar/37465 ^@ NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) http://identifiers.org/clinvar/37523 ^@ NM_007294.3(BRCA1):c.3331_3334delCAAG (p.Gln1111Asnfs) http://identifiers.org/clinvar/37575 ^@ NM_007294.3(BRCA1):c.4213A>G (p.Ile1405Val) http://identifiers.org/clinvar/37628 ^@ NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile) http://identifiers.org/clinvar/37682 ^@ NM_007294.3(BRCA1):c.5565_5573delACCCCAGAT (p.Gln1857_Pro1859del) http://identifiers.org/clinvar/37736 ^@ NM_000059.3(BRCA2):c.1296_1297delGA (p.Asn433Glnfs) http://identifiers.org/clinvar/37788 ^@ NM_000059.3(BRCA2):c.2491G>A (p.Val831Ile) http://identifiers.org/clinvar/37841 ^@ NM_000059.3(BRCA2):c.3443A>G (p.Gln1148Arg) http://identifiers.org/clinvar/37893 ^@ NM_000059.3(BRCA2):c.4316C>A (p.Ala1439Asp) http://identifiers.org/clinvar/37946 ^@ NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) http://identifiers.org/clinvar/50886 ^@ NM_002863.4(PYGL):c.1964_1969invAAAAAG (p.Glu655_Lys656del) http://identifiers.org/clinvar/51551 ^@ NM_000059.3(BRCA2):c.3881T>A (p.Leu1294Ter) http://identifiers.org/clinvar/51603 ^@ NM_000059.3(BRCA2):c.4136dupA (p.Ile1380Aspfs) http://identifiers.org/clinvar/51655 ^@ NM_000059.3(BRCA2):c.4483G>A (p.Val1495Ile) http://identifiers.org/clinvar/51707 ^@ NM_000059.3(BRCA2):c.4742_4743insTG (p.Glu1581Aspfs) http://identifiers.org/clinvar/51757 ^@ NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) http://identifiers.org/clinvar/51809 ^@ NM_000059.3(BRCA2):c.5188A>T (p.Asn1730Tyr) http://identifiers.org/clinvar/51862 ^@ NM_000059.3(BRCA2):c.5434G>T (p.Glu1812Ter) http://identifiers.org/clinvar/51914 ^@ NM_000059.3(BRCA2):c.5717_5718delAC (p.Asn1906Ilefs) http://identifiers.org/clinvar/51966 ^@ NM_000059.3(BRCA2):c.5939C>T (p.Thr1980Ile) http://identifiers.org/clinvar/52017 ^@ NM_000059.3(BRCA2):c.6124C>T (p.Gln2042Ter) http://identifiers.org/clinvar/52068 ^@ NM_000059.3(BRCA2):c.632T>C (p.Val211Ala) http://identifiers.org/clinvar/52122 ^@ NM_000059.3(BRCA2):c.6531_6534delTCAT (p.Ile2177Metfs) http://identifiers.org/clinvar/52173 ^@ NM_000059.3(BRCA2):c.673_676delACTA (p.Thr225Leufs) http://identifiers.org/clinvar/52223 ^@ NM_000059.3(BRCA2):c.6943A>C (p.Ile2315Leu) http://identifiers.org/clinvar/52275 ^@ NM_000059.3(BRCA2):c.7156dupT (p.Ser2386Phefs) http://identifiers.org/clinvar/52325 ^@ NM_000059.3(BRCA2):c.7429C>T (p.Pro2477Ser) http://identifiers.org/clinvar/52375 ^@ NM_000059.3(BRCA2):c.7636_7645delTCTAAACATT (p.Ser2546Alafs) http://identifiers.org/clinvar/52426 ^@ NM_000059.3(BRCA2):c.7847delC (p.Ser2616Leufs) http://identifiers.org/clinvar/52476 ^@ NM_000059.3(BRCA2):c.8029_8030delGA (p.Glu2677Lysfs) http://identifiers.org/clinvar/52526 ^@ NM_000059.3(BRCA2):c.8195T>G (p.Leu2732Ter) http://identifiers.org/clinvar/52577 ^@ NM_000059.3(BRCA2):c.8399C>G (p.Pro2800Arg) http://identifiers.org/clinvar/52627 ^@ NM_000059.3(BRCA2):c.8579delA (p.Lys2860Argfs) http://identifiers.org/clinvar/52679 ^@ NM_000059.3(BRCA2):c.8789A>G (p.Asn2930Ser) http://identifiers.org/clinvar/52729 ^@ NM_000059.3(BRCA2):c.9018_9019insTCTA (p.Arg3007Serfs) http://identifiers.org/clinvar/52780 ^@ NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) http://identifiers.org/clinvar/52831 ^@ NM_000059.3(BRCA2):c.9403delC (p.Leu3135Phefs) http://identifiers.org/clinvar/52882 ^@ NM_000059.3(BRCA2):c.9648+84G>A http://identifiers.org/clinvar/52932 ^@ NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) http://identifiers.org/clinvar/52982 ^@ NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) http://identifiers.org/clinvar/53441 ^@ NM_000492.3(CFTR):c.2126G>A (p.Arg709Gln) http://identifiers.org/clinvar/53494 ^@ NM_000492.3(CFTR):c.2472delT (p.Asn825Thrfs) http://identifiers.org/clinvar/54446 ^@ NM_007294.3(BRCA1):c.2048delA (p.Lys683Serfs) http://identifiers.org/clinvar/54496 ^@ NM_007294.3(BRCA1):c.2202delA (p.Lys734Asnfs) http://identifiers.org/clinvar/54546 ^@ NM_007294.3(BRCA1):c.2356delC (p.Leu786Trpfs) http://identifiers.org/clinvar/54596 ^@ NM_007294.3(BRCA1):c.2551delG (p.Glu851Asnfs) http://identifiers.org/clinvar/54646 ^@ NM_007294.3(BRCA1):c.2685_2686delAA (p.Pro897Lysfs) http://identifiers.org/clinvar/54696 ^@ NM_007294.3(BRCA1):c.2836_2837delAT (p.Ile946Glnfs) http://identifiers.org/clinvar/54746 ^@ NM_007294.3(BRCA1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/54796 ^@ NM_007294.3(BRCA1):c.3193dupG (p.Asp1065Glyfs) http://identifiers.org/clinvar/54846 ^@ NM_007294.3(BRCA1):c.3333_3336delAGAA (p.Gln1111Hisfs) http://identifiers.org/clinvar/54896 ^@ NM_007294.3(BRCA1):c.3477_3480delAAAG (p.Ile1159Metfs) http://identifiers.org/clinvar/54947 ^@ NM_007294.3(BRCA1):c.3629_3630delAG (p.Glu1210Valfs) http://identifiers.org/clinvar/54999 ^@ NM_007294.3(BRCA1):c.3771_3778delGGAGAATT (p.Glu1257Aspfs) http://identifiers.org/clinvar/55049 ^@ NM_007294.3(BRCA1):c.3916_3917delTT (p.Leu1306Aspfs) http://identifiers.org/clinvar/55100 ^@ NM_007294.3(BRCA1):c.4085delA (p.Asp1362Valfs) http://identifiers.org/clinvar/55151 ^@ NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=) http://identifiers.org/clinvar/55202 ^@ NM_007294.3(BRCA1):c.4452_4455delTACC (p.Thr1485Valfs) http://identifiers.org/clinvar/55252 ^@ NM_007294.3(BRCA1):c.4655_4658delACTT (p.Tyr1552Cysfs) http://identifiers.org/clinvar/55303 ^@ NM_007294.3(BRCA1):c.484G>C (p.Val162Leu) http://identifiers.org/clinvar/55353 ^@ NM_007294.3(BRCA1):c.4999A>T (p.Lys1667Ter) http://identifiers.org/clinvar/55403 ^@ NM_007294.3(BRCA1):c.5109T>G (p.Tyr1703Ter) http://identifiers.org/clinvar/55453 ^@ NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly) http://identifiers.org/clinvar/55505 ^@ NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser) http://identifiers.org/clinvar/55556 ^@ NM_007294.3(BRCA1):c.5377A>T (p.Lys1793Ter) http://identifiers.org/clinvar/55606 ^@ NM_007294.3(BRCA1):c.5506G>T (p.Glu1836Ter) http://identifiers.org/clinvar/55657 ^@ NM_007294.3(BRCA1):c.667_668delAA (p.Lys223Glyfs) http://identifiers.org/clinvar/55709 ^@ NM_007294.3(BRCA1):c.799dupT (p.Ser267Phefs) http://identifiers.org/clinvar/56471 ^@ NM_004646.3(NPHS1):c.2404C>T (p.Arg802Trp) http://identifiers.org/clinvar/56521 ^@ NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) http://identifiers.org/clinvar/56572 ^@ NM_015294.4(TRIM37):c.838_842delACTTT (p.Thr280Cysfs) http://identifiers.org/clinvar/56630 ^@ NM_017890.4(VPS13B):c.10841_10844delTCTC (p.Leu3614Profs) http://identifiers.org/clinvar/56680 ^@ NM_017890.4(VPS13B):c.626_627delCA (p.Thr209Serfs) http://identifiers.org/clinvar/56730 ^@ NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) http://identifiers.org/clinvar/56780 ^@ NM_153704.5(TMEM67):c.2897T>C (p.Leu966Pro) http://identifiers.org/clinvar/56970 ^@ NM_001127217.2(SMAD9):c.880C>T (p.Arg294Ter) http://identifiers.org/clinvar/57150 ^@ GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3 http://identifiers.org/clinvar/57200 ^@ GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1 http://identifiers.org/clinvar/57254 ^@ GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1 http://identifiers.org/clinvar/57307 ^@ GRCh38/hg38 20p13(chr20:89939-1028206)x3 http://identifiers.org/clinvar/57360 ^@ GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 http://identifiers.org/clinvar/101178 ^@ NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val) http://identifiers.org/clinvar/101278 ^@ NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser) http://identifiers.org/clinvar/101328 ^@ NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp) http://identifiers.org/clinvar/101378 ^@ NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp) http://identifiers.org/clinvar/101428 ^@ NM_000090.3(COL3A1):c.728G>A (p.Gly243Glu) http://identifiers.org/clinvar/101478 ^@ NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/102433 ^@ NM_001040436.2(YARS2):c.137G>A (p.Gly46Asp) http://identifiers.org/clinvar/102491 ^@ NM_000277.1(PAH):c.1046C>A (p.Ser349Ter) http://identifiers.org/clinvar/102548 ^@ NM_000277.1(PAH):c.1184C>A (p.Ala395Asp) http://identifiers.org/clinvar/102600 ^@ NM_000277.1(PAH):c.157C>T (p.Arg53Cys) http://identifiers.org/clinvar/102655 ^@ NM_000277.1(PAH):c.353-6T>A http://identifiers.org/clinvar/102706 ^@ NM_000277.1(PAH):c.506G>A (p.Arg169His) http://identifiers.org/clinvar/102756 ^@ NM_000277.1(PAH):c.609C>T (p.Cys203=) http://identifiers.org/clinvar/102807 ^@ NM_000277.1(PAH):c.724C>T (p.Leu242Phe) http://identifiers.org/clinvar/102857 ^@ NM_000277.1(PAH):c.827T>A (p.Met276Lys) http://identifiers.org/clinvar/102909 ^@ NM_000277.1(PAH):c.953T>C (p.Ile318Thr) http://identifiers.org/clinvar/102967 ^@ NM_178844.3(NLRC3):c.-800C>T http://identifiers.org/clinvar/103017 ^@ NM_001033053.2(NLRP1):c.2699+368G>A http://identifiers.org/clinvar/103067 ^@ NM_001174081.2(NLRP2):c.3050+433A>C http://identifiers.org/clinvar/103117 ^@ NM_022162.2(NOD2):c.1259G>A (p.Arg420His) http://identifiers.org/clinvar/103167 ^@ NM_032206.4(NLRC5):c.2870+353T>C http://identifiers.org/clinvar/103217 ^@ NM_134444.4(NLRP4):c.-66+7G>T http://identifiers.org/clinvar/103267 ^@ NM_145007.3(NLRP11):c.-63+110T>C http://identifiers.org/clinvar/103317 ^@ NM_176810.2(NLRP13):c.319+45C>T http://identifiers.org/clinvar/103367 ^@ NM_178844.3(NLRC3):c.2183+374G>C http://identifiers.org/clinvar/111241 ^@ NM_005534.3(IFNGR2):c.413-310A>C http://identifiers.org/clinvar/120176 ^@ NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) http://identifiers.org/clinvar/120253 ^@ NM_144670.5(A2ML1):c.289C>G (p.Arg97Gly) http://identifiers.org/clinvar/120303 ^@ NM_001282227.1(ADA2):c.380G>A (p.Arg127Gln) http://identifiers.org/clinvar/126195 ^@ NM_000059.3(BRCA2):c.8969G>A (p.Trp2990Ter) http://identifiers.org/clinvar/126255 ^@ NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) http://identifiers.org/clinvar/159960 ^@ NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter) http://identifiers.org/clinvar/160785 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 http://identifiers.org/clinvar/160835 ^@ GRCh38/hg38 16p11.2-11.1(chr16:34967717-35913137)x3 http://identifiers.org/clinvar/160888 ^@ GRCh38/hg38 5p14.3(chr5:20895874-21402889)x1 http://identifiers.org/clinvar/160940 ^@ GRCh38/hg38 9q33.1(chr9:117189877-119261350)x3 http://identifiers.org/clinvar/160990 ^@ GRCh38/hg38 6p25.3(chr6:259528-307998)x3 http://identifiers.org/clinvar/161041 ^@ GRCh38/hg38 17q12(chr17:36357258-37889296)x1 http://identifiers.org/clinvar/161091 ^@ GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 http://identifiers.org/clinvar/161781 ^@ NM_032236.6(USP48):c.1243A>G (p.Met415Val) http://identifiers.org/clinvar/161831 ^@ NM_173558.3(FGD2):c.882+3A>C http://identifiers.org/clinvar/161731 ^@ NM_020361.4(CPA6):c.1217G>C (p.Gly406Ala) http://identifiers.org/clinvar/161681 ^@ NM_014683.3(ULK2):c.514G>T (p.Ala172Ser) http://identifiers.org/clinvar/161995 ^@ NM_005154.4(USP8):c.2159C>G (p.Pro720Arg) http://identifiers.org/clinvar/162061 ^@ NM_001244008.1(KIF1A):c.746T>A (p.Leu249Gln) http://identifiers.org/clinvar/162121 ^@ NM_005211.3(CSF1R):c.2512G>C (p.Val838Leu) http://identifiers.org/clinvar/162180 ^@ NM_006766.4(KAT6A):c.4108G>T (p.Glu1370Ter) http://identifiers.org/clinvar/162392 ^@ NM_002335.3(LRP5):c.4587G>C (p.Arg1529Ser) http://identifiers.org/clinvar/162473 ^@ NM_004208.3(AIFM1):c.434C>T (p.Ala145Val) http://identifiers.org/clinvar/162526 ^@ NM_001848.2(COL6A1):c.1182+3G>A http://identifiers.org/clinvar/162613 ^@ NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr) http://identifiers.org/clinvar/178850 ^@ NM_000364.3(TNNT2):c.775G>A (p.Glu259Lys) http://identifiers.org/clinvar/163536 ^@ NM_024009.2(GJB3):c.652_663delCTGCACAAGGAC (p.Leu218_Asp221del) http://identifiers.org/clinvar/179450 ^@ NM_133378.4(TTN):c.85397C>A (p.Thr28466Lys) http://identifiers.org/clinvar/178581 ^@ NM_206933.2(USH2A):c.4378G>A (p.Gly1460Arg) http://identifiers.org/clinvar/179600 ^@ NM_133378.4(TTN):c.50949T>C (p.Ile16983=) http://identifiers.org/clinvar/179650 ^@ NM_133378.4(TTN):c.26950+10C>T http://identifiers.org/clinvar/179050 ^@ NM_001267550.2(TTN):c.43481-9dupT http://identifiers.org/clinvar/180100 ^@ NM_133378.4(TTN):c.12169T>C (p.Leu4057=) http://identifiers.org/clinvar/179900 ^@ NM_001267550.2(TTN):c.10770G>A (p.Glu3590=) http://identifiers.org/clinvar/179350 ^@ NM_133378.4(TTN):c.3089T>C (p.Leu1030Pro) http://identifiers.org/clinvar/179200 ^@ NM_194248.2(OTOF):c.4996T>C (p.Leu1666=) http://identifiers.org/clinvar/178749 ^@ NM_001369.2(DNAH5):c.5172C>T (p.Ala1724=) http://identifiers.org/clinvar/163161 ^@ NM_001369.2(DNAH5):c.192+14C>G http://identifiers.org/clinvar/179000 ^@ NM_133378.4(TTN):c.48024G>A (p.Pro16008=) http://identifiers.org/clinvar/162858 ^@ NM_178335.2(CCDC50):c.1003G>A (p.Ala335Thr) http://identifiers.org/clinvar/180000 ^@ NM_006005.3(WFS1):c.825G>A (p.Ala275=) http://identifiers.org/clinvar/163111 ^@ NM_001277115.1(DNAH11):c.7756T>C (p.Tyr2586His) http://identifiers.org/clinvar/177739 ^@ NM_000441.1(SLC26A4):c.2003T>C (p.Leu668Pro) http://identifiers.org/clinvar/163377 ^@ NM_005228.4(EGFR):c.2312_2313insTGT (p.Asn771_Pro772insVal) http://identifiers.org/clinvar/180050 ^@ NM_032119.3(ADGRV1):c.2241-10A>T http://identifiers.org/clinvar/178950 ^@ NM_032119.3(ADGRV1):c.6382C>A (p.Arg2128=) http://identifiers.org/clinvar/178799 ^@ NM_001010892.2(RSPH4A):c.446C>G (p.Thr149Ser) http://identifiers.org/clinvar/198552 ^@ NM_012434.4(SLC17A5):c.886G>A (p.Val296Ile) http://identifiers.org/clinvar/198604 ^@ NM_033100.3(CDHR1):c.526-7C>G http://identifiers.org/clinvar/198655 ^@ NM_001369.2(DNAH5):c.12655G>A (p.Ala4219Thr) http://identifiers.org/clinvar/198706 ^@ NM_000275.2(OCA2):c.867delC (p.Ser289Argfs) http://identifiers.org/clinvar/198761 ^@ NM_015600.4(ABHD12):c.787+3G>A http://identifiers.org/clinvar/198812 ^@ NM_004560.3(ROR2):c.1251C>T (p.Val417=) http://identifiers.org/clinvar/198868 ^@ NM_014874.3(MFN2):c.756C>T (p.Asn252=) http://identifiers.org/clinvar/198921 ^@ NM_153252.4(BRWD3):c.769G>A (p.Val257Ile) http://identifiers.org/clinvar/198973 ^@ NM_032119.3(ADGRV1):c.18433-7_18433-5delTTT http://identifiers.org/clinvar/199024 ^@ NM_000445.4(PLEC):c.874G>A (p.Val292Met) http://identifiers.org/clinvar/199074 ^@ NM_002109.5(HARS):c.911_922delTGCTCTTTGAGT (p.Leu304_Glu307del) http://identifiers.org/clinvar/199129 ^@ NM_012470.3(TNPO3):c.1179T>C (p.Thr393=) http://identifiers.org/clinvar/199179 ^@ NM_054027.4(ANKH):c.1141+5A>G http://identifiers.org/clinvar/199235 ^@ NM_005529.6(HSPG2):c.12842G>A (p.Arg4281His) http://identifiers.org/clinvar/199736 ^@ NM_000090.3(COL3A1):c.3019G>A (p.Ala1007Thr) http://identifiers.org/clinvar/201556 ^@ NM_198056.2(SCN5A):c.2343delG (p.Trp781Terfs) http://identifiers.org/clinvar/199845 ^@ NM_004415.3(DSP):c.6192T>C (p.Asn2064=) http://identifiers.org/clinvar/199903 ^@ NM_004415.3(DSP):c.6496C>T (p.Arg2166Ter) http://identifiers.org/clinvar/200280 ^@ NM_000238.3(KCNH2):c.387C>G (p.Phe129Leu) http://identifiers.org/clinvar/199678 ^@ NM_001613.2(ACTA2):c.991-1G>C http://identifiers.org/clinvar/200130 ^@ NM_000138.4(FBN1):c.8405G>A (p.Gly2802Asp) http://identifiers.org/clinvar/200072 ^@ NM_000138.4(FBN1):c.5971A>T (p.Asn1991Tyr) http://identifiers.org/clinvar/200184 ^@ NM_000138.4(FBN1):c.3668G>T (p.Cys1223Phe) http://identifiers.org/clinvar/200017 ^@ NM_000138.4(FBN1):c.3463G>A (p.Asp1155Asn) http://identifiers.org/clinvar/199960 ^@ NM_000138.4(FBN1):c.902G>T (p.Gly301Val) http://identifiers.org/clinvar/199792 ^@ NM_001943.4(DSG2):c.2750C>T (p.Ala917Val) http://identifiers.org/clinvar/201726 ^@ NM_001927.3(DES):c.358G>C (p.Ala120Pro) http://identifiers.org/clinvar/202117 ^@ NM_024334.2(TMEM43):c.659G>A (p.Arg220His) http://identifiers.org/clinvar/202057 ^@ NM_001134363.2(RBM20):c.1552C>T (p.Arg518Cys) http://identifiers.org/clinvar/201670 ^@ NM_014391.2(ANKRD1):c.222dupA (p.Leu75Thrfs) http://identifiers.org/clinvar/201615 ^@ NM_020297.3(ABCC9):c.1849G>A (p.Asp617Asn) http://identifiers.org/clinvar/201781 ^@ NM_000117.2(EMD):c.545_547delATC (p.Tyr182_Pro183delinsSer) http://identifiers.org/clinvar/202174 ^@ NM_000501.3(ELN):c.2160delC (p.Arg721Glyfs) http://identifiers.org/clinvar/202224 ^@ NC_000002.11:g.(?_51005771)_(51246088_?)del http://identifiers.org/clinvar/203068 ^@ NM_001256850.1(TTN):c.97838T>C (p.Leu32613Pro) http://identifiers.org/clinvar/203018 ^@ NM_001256850.1(TTN):c.91039G>A (p.Val30347Met) http://identifiers.org/clinvar/202968 ^@ NM_001256850.1(TTN):c.85705G>A (p.Val28569Met) http://identifiers.org/clinvar/202918 ^@ NM_001256850.1(TTN):c.78090G>C (p.Glu26030Asp) http://identifiers.org/clinvar/202402 ^@ NM_001256850.1(TTN):c.65239C>T (p.Arg21747Ter) http://identifiers.org/clinvar/202818 ^@ NM_001256850.1(TTN):c.64249A>G (p.Thr21417Ala) http://identifiers.org/clinvar/232986 ^@ NM_000038.5(APC):c.4941A>G (p.Thr1647=) http://identifiers.org/clinvar/233086 ^@ NM_000038.5(APC):c.7388A>C (p.Glu2463Ala) http://identifiers.org/clinvar/232886 ^@ NM_005732.3(RAD50):c.672T>A (p.Arg224=) http://identifiers.org/clinvar/231396 ^@ NM_005732.3(RAD50):c.1366G>T (p.Glu456Ter) http://identifiers.org/clinvar/231046 ^@ NM_005732.3(RAD50):c.2724T>C (p.Ala908=) http://identifiers.org/clinvar/232046 ^@ NM_005732.3(RAD50):c.3619-3C>T http://identifiers.org/clinvar/233737 ^@ NM_000535.6(PMS2):c.30A>G (p.Glu10=) http://identifiers.org/clinvar/231896 ^@ NM_002485.4(NBN):c.1046A>T (p.Asp349Val) http://identifiers.org/clinvar/233839 ^@ NM_058195.3(CDKN2A):c.220G>A (p.Gly74Ser) http://identifiers.org/clinvar/233536 ^@ NM_000077.4(CDKN2A):c.13G>A (p.Ala5Thr) http://identifiers.org/clinvar/231496 ^@ NM_000051.3(ATM):c.176C>T (p.Ala59Val) http://identifiers.org/clinvar/232936 ^@ NM_000051.3(ATM):c.266C>T (p.Ser89Phe) http://identifiers.org/clinvar/231546 ^@ NM_000051.3(ATM):c.3341A>G (p.Lys1114Arg) http://identifiers.org/clinvar/233586 ^@ NM_000051.3(ATM):c.5130G>T (p.Trp1710Cys) http://identifiers.org/clinvar/233386 ^@ NM_005591.3(MRE11):c.224G>A (p.Cys75Tyr) http://identifiers.org/clinvar/233286 ^@ NM_000059.3(BRCA2):c.3100A>G (p.Ile1034Val) http://identifiers.org/clinvar/233036 ^@ NM_000059.3(BRCA2):c.4790C>G (p.Ser1597Cys) http://identifiers.org/clinvar/231846 ^@ NM_000059.3(BRCA2):c.4941A>G (p.Thr1647=) http://identifiers.org/clinvar/231996 ^@ NM_000059.3(BRCA2):c.5357delG (p.Ser1786Ilefs) http://identifiers.org/clinvar/230946 ^@ NM_000548.4(TSC2):c.2365G>A (p.Val789Ile) http://identifiers.org/clinvar/232786 ^@ NM_000548.4(TSC2):c.3396G>T (p.Ser1132=) http://identifiers.org/clinvar/233686 ^@ NM_024675.3(PALB2):c.3374_3395del22 (p.Asp1125Glyfs) http://identifiers.org/clinvar/233636 ^@ NM_024675.3(PALB2):c.39G>A (p.Glu13=) http://identifiers.org/clinvar/233939 ^@ NM_004360.4(CDH1):c.907A>T (p.Thr303Ser) http://identifiers.org/clinvar/231246 ^@ NM_004360.4(CDH1):c.1325T>C (p.Leu442Ser) http://identifiers.org/clinvar/233336 ^@ NM_144997.5(FLCN):c.1330G>A (p.Ala444Thr) http://identifiers.org/clinvar/231596 ^@ NM_001042492.2(NF1):c.2107G>A (p.Val703Ile) http://identifiers.org/clinvar/232836 ^@ NM_001042492.2(NF1):c.7616-4A>G http://identifiers.org/clinvar/233989 ^@ NM_002878.3(RAD51D):c.13A>T (p.Arg5Trp) http://identifiers.org/clinvar/234039 ^@ NM_007294.3(BRCA1):c.4304A>G (p.Asp1435Gly) http://identifiers.org/clinvar/232096 ^@ NM_007294.3(BRCA1):c.4197C>G (p.Thr1399=) http://identifiers.org/clinvar/231296 ^@ NM_007294.3(BRCA1):c.2992C>G (p.Leu998Val) http://identifiers.org/clinvar/231446 ^@ NM_007294.3(BRCA1):c.2601G>A (p.Gln867=) http://identifiers.org/clinvar/233186 ^@ NM_007294.3(BRCA1):c.2535A>C (p.Ile845=) http://identifiers.org/clinvar/233788 ^@ NM_032043.2(BRIP1):c.3277C>T (p.Leu1093Phe) http://identifiers.org/clinvar/231346 ^@ NM_032043.2(BRIP1):c.1998T>C (p.Asn666=) http://identifiers.org/clinvar/231946 ^@ NM_032043.2(BRIP1):c.465A>G (p.Gln155=) http://identifiers.org/clinvar/231146 ^@ NM_000546.5(TP53):c.1101-1G>A http://identifiers.org/clinvar/233136 ^@ NM_000546.5(TP53):c.1025G>A (p.Arg342Gln) http://identifiers.org/clinvar/233889 ^@ NM_005359.5(SMAD4):c.153delA (p.Asp52Metfs) http://identifiers.org/clinvar/231096 ^@ NM_007194.3(CHEK2):c.925C>T (p.Leu309=) http://identifiers.org/clinvar/235053 ^@ NM_001035.2(RYR2):c.14173T>A (p.Tyr4725Asn) http://identifiers.org/clinvar/235135 ^@ NM_020921.3(NIN):c.6244A>G (p.Asn2082Asp) http://identifiers.org/clinvar/235663 ^@ NM_002968.2(SALL1):c.292A>G (p.Met98Val) http://identifiers.org/clinvar/235717 ^@ NC_012920.1:m.14022A>G http://identifiers.org/clinvar/235779 ^@ NM_000304.3(PMP22):c.245T>C (p.Leu82Pro) http://identifiers.org/clinvar/235851 ^@ NM_001083962.1(TCF4):c.1487-5G>A http://identifiers.org/clinvar/236035 ^@ NC_000009.12:g.69090066_69225446dup135381 http://identifiers.org/clinvar/236135 ^@ NM_000350.2(ABCA4):c.5558C>A (p.Ala1853Asp) http://identifiers.org/clinvar/236085 ^@ NM_000350.2(ABCA4):c.1719G>A (p.Met573Ile) http://identifiers.org/clinvar/236185 ^@ NM_014625.3(NPHS2):c.451+23C>T http://identifiers.org/clinvar/236273 ^@ NM_007294.3(BRCA1):c.5181_5182delAA (p.Lys1727Asnfs) http://identifiers.org/clinvar/236324 ^@ NC_000022.9:g.17257787_18686993dup1429207 http://identifiers.org/clinvar/236374 ^@ NC_000001.10:g.146089254_148004783dup1915530 http://identifiers.org/clinvar/236475 ^@ NM_201253.2(CRB1):c.2833G>A (p.Gly945Arg) http://identifiers.org/clinvar/236525 ^@ NM_006017.2(PROM1):c.1697delA (p.Asn566Ilefs) http://identifiers.org/clinvar/236425 ^@ NM_015629.3(PRPF31):c.1060C>T (p.Arg354Ter) http://identifiers.org/clinvar/238671 ^@ NM_001232.3(CASQ2):c.730_731invCA (p.His244Profs) http://identifiers.org/clinvar/240765 ^@ NM_007272.2(CTRC):c.533A>G (p.Gln178Arg) http://identifiers.org/clinvar/238221 ^@ NM_001035.2(RYR2):c.10389C>T (p.Thr3463=) http://identifiers.org/clinvar/240965 ^@ NM_015102.4(NPHP4):c.1852G>A (p.Glu618Lys) http://identifiers.org/clinvar/241865 ^@ NM_144573.3(NEXN):c.222T>C (p.Ile74=) http://identifiers.org/clinvar/240715 ^@ NM_006922.3(SCN3A):c.5584G>T (p.Gly1862Cys) http://identifiers.org/clinvar/238871 ^@ NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) http://identifiers.org/clinvar/238771 ^@ NM_001267550.2(TTN):c.39862G>C (p.Val13288Leu) http://identifiers.org/clinvar/238721 ^@ NM_001267550.2(TTN):c.23729G>T (p.Cys7910Phe) http://identifiers.org/clinvar/238821 ^@ NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu) http://identifiers.org/clinvar/239072 ^@ NM_001927.3(DES):c.1038G>A (p.Met346Ile) http://identifiers.org/clinvar/241965 ^@ NM_152383.4(DIS3L2):c.1836G>C (p.Pro612=) http://identifiers.org/clinvar/239122 ^@ NM_002354.2(EPCAM):c.151G>T (p.Val51Phe) http://identifiers.org/clinvar/237130 ^@ NM_000179.2(MSH6):c.1196C>T (p.Pro399Leu) http://identifiers.org/clinvar/237180 ^@ NM_000179.2(MSH6):c.3195C>G (p.Asn1065Lys) http://identifiers.org/clinvar/241015 ^@ NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) http://identifiers.org/clinvar/241765 ^@ NM_053025.3(MYLK):c.611G>A (p.Ser204Asn) http://identifiers.org/clinvar/241715 ^@ NM_032638.4(GATA2):c.1144-6C>T http://identifiers.org/clinvar/240665 ^@ NM_006514.3(SCN10A):c.268C>T (p.Arg90Trp) http://identifiers.org/clinvar/241065 ^@ NM_015896.3(ZMYND10):c.1019G>A (p.Arg340Gln) http://identifiers.org/clinvar/238571 ^@ NM_001148.4(ANK2):c.2277+9C>T http://identifiers.org/clinvar/240915 ^@ NM_014476.5(PDLIM3):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/237281 ^@ NM_000222.2(KIT):c.733A>G (p.Thr245Ala) http://identifiers.org/clinvar/237231 ^@ NM_000222.2(KIT):c.1027C>T (p.Pro343Ser) http://identifiers.org/clinvar/236575 ^@ NM_000038.5(APC):c.249delT (p.Gly84Glufs) http://identifiers.org/clinvar/236625 ^@ NM_000038.5(APC):c.595dupG (p.Ala199Glyfs) http://identifiers.org/clinvar/238971 ^@ NM_001369.2(DNAH5):c.3491C>T (p.Pro1164Leu) http://identifiers.org/clinvar/241215 ^@ NM_017838.3(NHP2):c.383T>C (p.Met128Thr) http://identifiers.org/clinvar/238621 ^@ NM_001190787.1(MCIDAS):c.739C>T (p.Arg247Trp) http://identifiers.org/clinvar/241415 ^@ NM_021930.5(RINT1):c.766C>G (p.Arg256Gly) http://identifiers.org/clinvar/238921 ^@ NM_001277115.1(DNAH11):c.4621C>T (p.Arg1541Ter) http://identifiers.org/clinvar/258524 ^@ NM_001999.3(FBN2):c.6758-48T>C http://identifiers.org/clinvar/257974 ^@ NM_001369.2(DNAH5):c.11034A>G (p.Lys3678=) http://identifiers.org/clinvar/258074 ^@ NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) http://identifiers.org/clinvar/258024 ^@ NM_001369.2(DNAH5):c.3861T>C (p.Tyr1287=) http://identifiers.org/clinvar/256085 ^@ NM_000426.3(LAMA2):c.7451+37A>G http://identifiers.org/clinvar/256285 ^@ NM_000500.7(CYP21A2):c.1125C>T (p.Ser375=) http://identifiers.org/clinvar/259324 ^@ NM_004370.5(COL12A1):c.2086T>C (p.Leu696=) http://identifiers.org/clinvar/258124 ^@ NM_001458.4(FLNC):c.*1A>G http://identifiers.org/clinvar/260264 ^@ NM_012470.3(TNPO3):c.2358G>A (p.Leu786=) http://identifiers.org/clinvar/258474 ^@ NM_001868.3(CPA1):c.165G>C (p.Gly55=) http://identifiers.org/clinvar/260764 ^@ NM_016616.4(NME8):c.529-8A>C http://identifiers.org/clinvar/258774 ^@ NM_002546.3(TNFRSF11B):c.817+8A>C http://identifiers.org/clinvar/259174 ^@ NM_003816.2(ADAM9):c.1071C>T (p.His357=) http://identifiers.org/clinvar/258174 ^@ NM_001701.3(BAAT):c.911T>C (p.Val304Ala) http://identifiers.org/clinvar/258624 ^@ NM_002316.3(LMX1B):c.432C>T (p.Cys144=) http://identifiers.org/clinvar/257335 ^@ NM_001080114.1(LDB3):c.1074C>T (p.Asn358=) http://identifiers.org/clinvar/260714 ^@ NM_016341.3(PLCE1):c.2076A>T (p.Thr692=) http://identifiers.org/clinvar/258824 ^@ NM_002860.3(ALDH18A1):c.1153-30T>C http://identifiers.org/clinvar/255485 ^@ NM_000190.3(HMBS):c.606G>T (p.Val202=) http://identifiers.org/clinvar/259024 ^@ NM_003282.3(TNNI2):c.276+49C>T http://identifiers.org/clinvar/258974 ^@ NM_003156.3(STIM1):c.1803C>G (p.Pro601=) http://identifiers.org/clinvar/258574 ^@ NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) http://identifiers.org/clinvar/259224 ^@ NM_004055.4(CAPN5):c.30C>G (p.Asp10Glu) http://identifiers.org/clinvar/258224 ^@ NM_001844.4(COL2A1):c.2193+32G>A http://identifiers.org/clinvar/256685 ^@ NM_000552.4(VWF):c.5620+50T>C http://identifiers.org/clinvar/255635 ^@ NM_000257.3(MYH7):c.895+12C>A http://identifiers.org/clinvar/257135 ^@ NM_001024858.2(SPTB):c.6483C>A (p.Ser2161Arg) http://identifiers.org/clinvar/335671 ^@ NM_001029883.2(C2orf71):c.459G>A (p.Thr153=) http://identifiers.org/clinvar/335821 ^@ NM_000348.3(SRD5A2):c.-64A>G http://identifiers.org/clinvar/335921 ^@ NM_000104.3(CYP1B1):c.*1781T>C http://identifiers.org/clinvar/332870 ^@ NM_133378.4(TTN):c.36715G>A (p.Asp12239Asn) http://identifiers.org/clinvar/336021 ^@ NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) http://identifiers.org/clinvar/335371 ^@ NM_000182.4(HADHA):c.*302G>A http://identifiers.org/clinvar/336221 ^@ NM_001430.4(EPAS1):c.-341dupT http://identifiers.org/clinvar/335521 ^@ NM_002437.4(MPV17):c.*347C>T http://identifiers.org/clinvar/335571 ^@ NM_001029883.2(C2orf71):c.*3040C>T http://identifiers.org/clinvar/336428 ^@ NM_000251.2(MSH2):c.942+26_942+29delAAAA http://identifiers.org/clinvar/335621 ^@ NM_001029883.2(C2orf71):c.*830C>A http://identifiers.org/clinvar/336171 ^@ NM_133259.3(LRPPRC):c.441T>C (p.His147=) http://identifiers.org/clinvar/337417 ^@ NM_004836.6(EIF2AK3):c.1165+10T>C http://identifiers.org/clinvar/342697 ^@ NM_020754.3(ARHGAP31):c.*1311A>T http://identifiers.org/clinvar/337467 ^@ NM_017849.3(TMEM127):c.*2171C>T http://identifiers.org/clinvar/342997 ^@ NM_000373.3(UMPS):c.*3131G>A http://identifiers.org/clinvar/343147 ^@ NM_032638.4(GATA2):c.-215C>T http://identifiers.org/clinvar/343197 ^@ NM_014049.4(ACAD9):c.1190C>T (p.Ala397Val) http://identifiers.org/clinvar/343247 ^@ NM_052985.3(IFT122):c.2096A>C (p.Glu699Ala) http://identifiers.org/clinvar/335471 ^@ NM_194248.2(OTOF):c.-113G>A http://identifiers.org/clinvar/342597 ^@ NM_000796.5(DRD3):c.821G>A (p.Gly274Glu) http://identifiers.org/clinvar/343447 ^@ NM_001063.3(TF):c.1687+9A>C http://identifiers.org/clinvar/343497 ^@ NM_024334.2(TMEM43):c.-142G>A http://identifiers.org/clinvar/343547 ^@ NM_024334.2(TMEM43):c.*1884T>C http://identifiers.org/clinvar/335321 ^@ NM_152783.4(D2HGDH):c.1476G>A (p.Pro492=) http://identifiers.org/clinvar/343697 ^@ NM_032383.4(HPS3):c.884+22_884+25dupTTTT http://identifiers.org/clinvar/335771 ^@ NM_000379.3(XDH):c.2592C>T (p.His864=) http://identifiers.org/clinvar/343847 ^@ NM_005677.3(COLQ):c.942G>A (p.Pro314=) http://identifiers.org/clinvar/335871 ^@ NM_014946.3(SPAST):c.*1962A>G http://identifiers.org/clinvar/343097 ^@ NM_002880.3(RAF1):c.*495C>T http://identifiers.org/clinvar/335721 ^@ NM_004304.4(ALK):c.-161T>C http://identifiers.org/clinvar/343297 ^@ NM_000539.3(RHO):c.*645G>C http://identifiers.org/clinvar/350526 ^@ NM_001182.4(ALDH7A1):c.*2700A>T http://identifiers.org/clinvar/350576 ^@ NM_001182.4(ALDH7A1):c.*548C>T http://identifiers.org/clinvar/350676 ^@ NM_032446.2(MEGF10):c.*192A>T http://identifiers.org/clinvar/350876 ^@ NM_000358.2(TGFBI):c.721A>G (p.Asn241Asp) http://identifiers.org/clinvar/351026 ^@ NM_006790.2(MYOT):c.817-11T>C http://identifiers.org/clinvar/351176 ^@ NM_199189.2(MATR3):c.*1767C>T http://identifiers.org/clinvar/351076 ^@ NM_022464.4(SIL1):c.1017G>C (p.Leu339=) http://identifiers.org/clinvar/358652 ^@ NM_014491.3(FOXP2):c.*2191C>T http://identifiers.org/clinvar/355553 ^@ NM_000416.2(IFNGR1):c.1101G>A (p.Pro367=) http://identifiers.org/clinvar/351376 ^@ NM_001018077.1(NR3C1):c.289G>A (p.Val97Met) http://identifiers.org/clinvar/355703 ^@ NM_203395.2(IYD):c.*780T>C http://identifiers.org/clinvar/358852 ^@ NM_000230.2(LEP):c.*2738G>A http://identifiers.org/clinvar/351676 ^@ NM_024577.3(SH3TC2):c.*12752T>A http://identifiers.org/clinvar/359102 ^@ NM_000083.2(CLCN1):c.563-9C>T http://identifiers.org/clinvar/355953 ^@ NM_033071.3(SYNE1):c.-223-10T>C http://identifiers.org/clinvar/351726 ^@ NM_024577.3(SH3TC2):c.*10022A>T http://identifiers.org/clinvar/356003 ^@ NM_004562.2(PRKN):c.*1016C>T http://identifiers.org/clinvar/356103 ^@ NM_000367.4(TPMT):c.*634dupT http://identifiers.org/clinvar/359402 ^@ NM_022458.3(LMBR1):c.*1357A>G http://identifiers.org/clinvar/359452 ^@ NM_058246.3(DNAJB6):c.347-14A>T http://identifiers.org/clinvar/359502 ^@ NM_001101426.3(ISPD):c.*3139A>G http://identifiers.org/clinvar/352763 ^@ NM_001017995.2(SH3PXD2B):c.*2066G>T http://identifiers.org/clinvar/352913 ^@ NM_022455.4(NSD1):c.*2160A>C http://identifiers.org/clinvar/353063 ^@ NM_014244.4(ADAMTS2):c.*1486C>A http://identifiers.org/clinvar/353013 ^@ NM_006261.4(PROP1):c.618G>A (p.Leu206=) http://identifiers.org/clinvar/360841 ^@ NM_005751.4(AKAP9):c.8995A>G (p.Thr2999Ala) http://identifiers.org/clinvar/353213 ^@ NM_016180.4(SLC45A2):c.1156+7C>T http://identifiers.org/clinvar/361442 ^@ NM_001385.2(DPYS):c.*351dupA http://identifiers.org/clinvar/353513 ^@ NM_000514.3(GDNF):c.*532A>G http://identifiers.org/clinvar/361241 ^@ NM_178857.5(RP1L1):c.5713G>A (p.Gly1905Ser) http://identifiers.org/clinvar/353263 ^@ NM_002185.3(IL7R):c.376A>C (p.Ile126Leu) http://identifiers.org/clinvar/353663 ^@ NM_000436.3(OXCT1):c.696G>A (p.Leu232=) http://identifiers.org/clinvar/353413 ^@ NM_023073.3(C5orf42):c.9471dupT (p.Val3158Cysfs) http://identifiers.org/clinvar/353763 ^@ NM_002203.3(ITGA2):c.2376C>T (p.Asp792=) http://identifiers.org/clinvar/361701 ^@ NM_002546.3(TNFRSF11B):c.-215C>T http://identifiers.org/clinvar/353463 ^@ NM_023073.3(C5orf42):c.1116G>A (p.Thr372=) http://identifiers.org/clinvar/361851 ^@ NM_004519.3(KCNQ3):c.*1407A>C http://identifiers.org/clinvar/363740 ^@ NM_018972.2(GDAP1):c.*1377C>T http://identifiers.org/clinvar/299793 ^@ NM_032844.4(MASTL):c.1408C>A (p.His470Asn) http://identifiers.org/clinvar/363890 ^@ NM_019098.4(CNGB3):c.-36T>G http://identifiers.org/clinvar/299843 ^@ NM_021252.4(RAB18):c.*1412C>T http://identifiers.org/clinvar/306437 ^@ NM_001814.5(CTSC):c.-48G>A http://identifiers.org/clinvar/363940 ^@ NM_018444.3(PDP1):c.-67C>A http://identifiers.org/clinvar/306587 ^@ NM_030962.3(SBF2):c.3111-6T>C http://identifiers.org/clinvar/364040 ^@ NM_001001557.3(GDF6):c.*58G>A http://identifiers.org/clinvar/300243 ^@ NM_000417.2(IL2RA):c.*414C>T http://identifiers.org/clinvar/364390 ^@ NM_005502.3(ABCA1):c.5383-3delT http://identifiers.org/clinvar/300393 ^@ NM_022124.5(CDH23):c.-168C>T http://identifiers.org/clinvar/364340 ^@ NM_005502.3(ABCA1):c.*1900T>G http://identifiers.org/clinvar/300543 ^@ NM_002778.3(PSAP):c.-50G>T http://identifiers.org/clinvar/364440 ^@ NM_005502.3(ABCA1):c.1977C>T (p.Ile659=) http://identifiers.org/clinvar/307726 ^@ NM_000834.3(GRIN2B):c.*293G>A http://identifiers.org/clinvar/300943 ^@ NM_002247.3(KCNMA1):c.*932G>T http://identifiers.org/clinvar/307876 ^@ NM_172364.4(CACNA2D4):c.-91G>A http://identifiers.org/clinvar/365980 ^@ NM_016219.4(MAN1B1):c.*157C>G http://identifiers.org/clinvar/298404 ^@ NM_004376.6(COX15):c.*543G>A http://identifiers.org/clinvar/366080 ^@ NM_144966.5(FREM1):c.*1209C>T http://identifiers.org/clinvar/366130 ^@ NM_144966.5(FREM1):c.3802G>T (p.Val1268Phe) http://identifiers.org/clinvar/302032 ^@ NM_001080463.1(DYNC2H1):c.4002G>A (p.Glu1334=) http://identifiers.org/clinvar/366180 ^@ NM_144966.5(FREM1):c.-9C>G http://identifiers.org/clinvar/302182 ^@ NM_001025389.1(AMPD3):c.*845A>G http://identifiers.org/clinvar/302332 ^@ NM_002906.3(RDX):c.*1058G>A http://identifiers.org/clinvar/302482 ^@ NM_003002.3(SDHD):c.80G>A (p.Arg27Lys) http://identifiers.org/clinvar/366230 ^@ NM_003070.4(SMARCA2):c.4029T>A (p.Leu1343=) http://identifiers.org/clinvar/366280 ^@ NM_002451.3(MTAP):c.*1608delC http://identifiers.org/clinvar/302682 ^@ NM_000073.2(CD3G):c.307+13C>T http://identifiers.org/clinvar/366330 ^@ NM_003070.4(SMARCA2):c.*16T>C http://identifiers.org/clinvar/366730 ^@ NM_004629.1(FANCG):c.1808C>T (p.Ser603Phe) http://identifiers.org/clinvar/306687 ^@ NM_018979.3(WNK1):c.*1132_*1133delGA http://identifiers.org/clinvar/302932 ^@ NM_031433.3(MFRP):c.*951C>G http://identifiers.org/clinvar/314269 ^@ NM_000428.2(LTBP2):c.4869G>A (p.Leu1623=) http://identifiers.org/clinvar/321904 ^@ NM_006445.3(PRPF8):c.2409G>A (p.Ala803=) http://identifiers.org/clinvar/314369 ^@ NM_001040108.1(MLH3):c.*744A>G http://identifiers.org/clinvar/314419 ^@ NM_017791.2(FLVCR2):c.1474C>T (p.Arg492Trp) http://identifiers.org/clinvar/340608 ^@ NM_014339.6(IL17RA):c.2160C>T (p.Pro720=) http://identifiers.org/clinvar/322104 ^@ NM_016239.3(MYO15A):c.-173T>A http://identifiers.org/clinvar/322154 ^@ NM_016239.3(MYO15A):c.6012G>A (p.Pro2004=) http://identifiers.org/clinvar/340758 ^@ NM_017929.5(PEX26):c.*113G>A http://identifiers.org/clinvar/322354 ^@ NM_080669.5(SLC46A1):c.*3603C>T http://identifiers.org/clinvar/322454 ^@ NM_005148.3(UNC119):c.*265G>A http://identifiers.org/clinvar/313619 ^@ NM_182914.2(SYNE2):c.16312G>A (p.Asp5438Asn) http://identifiers.org/clinvar/313669 ^@ NM_182914.2(SYNE2):c.20562G>T (p.Val6854=) http://identifiers.org/clinvar/313919 ^@ NM_015346.3(ZFYVE26):c.956C>T (p.Ala319Val) http://identifiers.org/clinvar/314119 ^@ NM_031427.3(DNAL1):c.*6162_*6163delTG http://identifiers.org/clinvar/323793 ^@ NM_001193466.1(KANSL1):c.608G>A (p.Gly203Glu) http://identifiers.org/clinvar/316008 ^@ NM_000119.2(EPB42):c.2031_2033delCAT (p.Met678del) http://identifiers.org/clinvar/316308 ^@ NM_000138.4(FBN1):c.*2260C>A http://identifiers.org/clinvar/314469 ^@ NM_052873.2(IFT43):c.148-15T>C http://identifiers.org/clinvar/314519 ^@ NM_013382.5(POMT2):c.*1748C>A http://identifiers.org/clinvar/324402 ^@ NM_000789.3(ACE):c.2642-7C>T http://identifiers.org/clinvar/316808 ^@ NM_004727.2(SLC24A1):c.3021G>A (p.Val1007=) http://identifiers.org/clinvar/316908 ^@ NM_005902.3(SMAD3):c.*1614C>A http://identifiers.org/clinvar/314919 ^@ NM_004239.4(TRIP11):c.*312A>G http://identifiers.org/clinvar/317158 ^@ NM_000126.3(ETFA):c.-7G>A http://identifiers.org/clinvar/324902 ^@ NM_000346.3(SOX9):c.-169G>A http://identifiers.org/clinvar/324952 ^@ NM_018714.2(COG1):c.-19G>C http://identifiers.org/clinvar/325052 ^@ NM_173477.4(USH1G):c.*49C>T http://identifiers.org/clinvar/325402 ^@ NM_024599.5(RHBDF2):c.*619A>G http://identifiers.org/clinvar/325452 ^@ NM_024599.5(RHBDF2):c.745G>A (p.Ala249Thr) http://identifiers.org/clinvar/318048 ^@ NM_014714.3(IFT140):c.2682C>A (p.His894Gln) http://identifiers.org/clinvar/373619 ^@ NM_000530.7(MPZ):c.646-3C>A http://identifiers.org/clinvar/373569 ^@ NM_201253.2(CRB1):c.4061C>A (p.Ala1354Asp) http://identifiers.org/clinvar/373419 ^@ NM_004321.7(KIF1A):c.829_849del21 (p.Thr277_Ser283del) http://identifiers.org/clinvar/373719 ^@ NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) http://identifiers.org/clinvar/373069 ^@ NM_015265.3(SATB2):c.1196G>A (p.Arg399His) http://identifiers.org/clinvar/373269 ^@ NM_015120.4(ALMS1):c.7823C>G (p.Ala2608Gly) http://identifiers.org/clinvar/372763 ^@ NM_000094.3(COL7A1):c.6770G>C (p.Gly2257Ala) http://identifiers.org/clinvar/372814 ^@ NM_022455.4(NSD1):c.6965dupT (p.Ala2323Glyfs) http://identifiers.org/clinvar/373469 ^@ NM_015093.5(TAB2):c.251C>A (p.Ser84Ter) http://identifiers.org/clinvar/372559 ^@ NM_003165.3(STXBP1):c.1012C>T (p.Gln338Ter) http://identifiers.org/clinvar/372918 ^@ NM_003235.4(TG):c.2443G>T (p.Gly815Ter) http://identifiers.org/clinvar/372609 ^@ NM_004519.3(KCNQ3):c.2225T>G (p.Val742Gly) http://identifiers.org/clinvar/373819 ^@ NM_032634.3(PIGO):c.2722C>T (p.His908Tyr) http://identifiers.org/clinvar/372713 ^@ NM_000275.2(OCA2):c.619_636del18 (p.Leu207_Leu212del) http://identifiers.org/clinvar/373519 ^@ NM_001845.5(COL4A1):c.4388G>A (p.Gly1463Glu) http://identifiers.org/clinvar/373119 ^@ NM_174916.2(UBR1):c.850G>C (p.Glu284Gln) http://identifiers.org/clinvar/372866 ^@ NM_002693.2(POLG):c.3483-2A>G http://identifiers.org/clinvar/373219 ^@ NM_133647.1(SLC12A6):c.1601A>G (p.Asn534Ser) http://identifiers.org/clinvar/372660 ^@ NM_207346.2(TSEN54):c.521G>A (p.Ser174Asn) http://identifiers.org/clinvar/373369 ^@ NM_003922.3(HERC1):c.7615G>A (p.Ala2539Thr) http://identifiers.org/clinvar/373169 ^@ NM_024422.4(DSC2):c.2381C>T (p.Ser794Leu) http://identifiers.org/clinvar/373769 ^@ NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) http://identifiers.org/clinvar/372969 ^@ NM_006702.4(PNPLA6):c.3736_3737delTT (p.Leu1246Glyfs) http://identifiers.org/clinvar/373019 ^@ NM_033380.2(COL4A5):c.4652T>C (p.Met1551Thr) http://identifiers.org/clinvar/373669 ^@ NM_000531.5(OTC):c.354G>A (p.Leu118=) http://identifiers.org/clinvar/373319 ^@ NM_000444.5(PHEX):c.663+2T>A http://identifiers.org/clinvar/374653 ^@ NM_000726.4(CACNB4):c.1504C>G (p.Pro502Ala) http://identifiers.org/clinvar/374703 ^@ NM_206933.2(USH2A):c.9048C>A (p.Cys3016Ter) http://identifiers.org/clinvar/374753 ^@ NM_153603.3(COG7):c.1166_1167insT (p.Gln389Hisfs) http://identifiers.org/clinvar/374813 ^@ NM_000141.4(FGFR2):c.923A>G (p.Tyr308Cys) http://identifiers.org/clinvar/374863 ^@ NM_033068.2(ACPT):c.331C>T (p.Arg111Cys) http://identifiers.org/clinvar/374926 ^@ NM_015213.3(DENND5A):c.2547delG (p.Lys850Serfs) http://identifiers.org/clinvar/375313 ^@ NM_014855.2(AP5Z1):c.1322G>A (p.Trp441Ter) http://identifiers.org/clinvar/375366 ^@ NM_001127222.1(CACNA1A):c.5015G>C (p.Arg1672Pro) http://identifiers.org/clinvar/375421 ^@ NM_001453.2(FOXC1):c.116_123delCCATGCCG (p.Ala39Glyfs) http://identifiers.org/clinvar/375486 ^@ NM_001003694.1(BRPF1):c.362_363delAG (p.Glu121Glyfs) http://identifiers.org/clinvar/375540 ^@ NM_000815.4(GABRD):c.1108G>A (p.Val370Ile) http://identifiers.org/clinvar/375605 ^@ NM_002485.4(NBN):c.1125G>A (p.Trp375Ter) http://identifiers.org/clinvar/375658 ^@ NM_172139.3(IFNL3):c.259-126T>C http://identifiers.org/clinvar/375749 ^@ NM_000517.4(HBA2):c.*94A>G http://identifiers.org/clinvar/375852 ^@ NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) http://identifiers.org/clinvar/375802 ^@ NM_000527.4(LDLR):c.924A>T (p.Glu308Asp) http://identifiers.org/clinvar/375905 ^@ NM_000222.2(KIT):c.1650A>C (p.Lys550Asn) http://identifiers.org/clinvar/381465 ^@ NM_000251.2(MSH2):c.-9G>A http://identifiers.org/clinvar/393087 ^@ NM_000179.2(MSH6):c.2928T>C (p.Arg976=) http://identifiers.org/clinvar/383959 ^@ NM_001135659.2(NRXN1):c.2952T>G (p.Tyr984Ter) http://identifiers.org/clinvar/390498 ^@ NM_003494.3(DYSF):c.3521-12C>T http://identifiers.org/clinvar/391887 ^@ NM_015120.4(ALMS1):c.5637T>C (p.Val1879=) http://identifiers.org/clinvar/383759 ^@ NM_015120.4(ALMS1):c.6339T>A (p.Ser2113Arg) http://identifiers.org/clinvar/378721 ^@ NM_006070.5(TFG):c.663C>A (p.Gly221=) http://identifiers.org/clinvar/392187 ^@ NM_001163435.2(TBCK):c.1130A>T (p.Asp377Val) http://identifiers.org/clinvar/381215 ^@ NM_006514.3(SCN10A):c.5295G>A (p.Ser1765=) http://identifiers.org/clinvar/378164 ^@ NM_000179.2(MSH6):c.852T>C (p.Asp284=) http://identifiers.org/clinvar/392137 ^@ NM_199069.1(NDUFAF3):c.438+11G>A http://identifiers.org/clinvar/390348 ^@ NM_005051.2(QARS):c.-32C>A http://identifiers.org/clinvar/383809 ^@ NM_004656.3(BAP1):c.2103C>T (p.Arg701=) http://identifiers.org/clinvar/392037 ^@ NM_000038.5(APC):c.465A>G (p.Lys155=) http://identifiers.org/clinvar/384459 ^@ NM_000038.5(APC):c.6789A>G (p.Glu2263=) http://identifiers.org/clinvar/383909 ^@ NM_001085411.2(NADK2):c.1013-17C>T http://identifiers.org/clinvar/381015 ^@ NM_002397.4(MEF2C):c.261G>A (p.Thr87=) http://identifiers.org/clinvar/381265 ^@ NM_000426.3(LAMA2):c.74C>T (p.Pro25Leu) http://identifiers.org/clinvar/384810 ^@ NM_014244.4(ADAMTS2):c.1993G>A (p.Gly665Arg) http://identifiers.org/clinvar/392337 ^@ NM_198056.2(SCN5A):c.273+1G>A http://identifiers.org/clinvar/392287 ^@ NM_133433.3(NIPBL):c.4561-2A>G http://identifiers.org/clinvar/388059 ^@ NM_005051.2(QARS):c.1864-15A>G http://identifiers.org/clinvar/389698 ^@ NM_000426.3(LAMA2):c.5866-15T>C http://identifiers.org/clinvar/377812 ^@ NM_004415.3(DSP):c.6381C>T (p.Ala2127=) http://identifiers.org/clinvar/387859 ^@ NM_000426.3(LAMA2):c.2856+13G>A http://identifiers.org/clinvar/388159 ^@ NM_001167734.1(VARS2):c.2197-13C>T http://identifiers.org/clinvar/384610 ^@ NM_001458.4(FLNC):c.8049C>T (p.Tyr2683=) http://identifiers.org/clinvar/388009 ^@ NM_033071.3(SYNE1):c.960+14A>T http://identifiers.org/clinvar/378570 ^@ NM_032861.3(SERAC1):c.1396A>T (p.Met466Leu) http://identifiers.org/clinvar/380463 ^@ NM_147127.4(EVC2):c.3375A>G (p.Ala1125=) http://identifiers.org/clinvar/378469 ^@ NM_020320.4(RARS2):c.318T>A (p.Ile106=) http://identifiers.org/clinvar/390298 ^@ NM_016203.3(PRKAG2):c.1585-19C>G http://identifiers.org/clinvar/380312 ^@ NM_004333.4(BRAF):c.241-8T>A http://identifiers.org/clinvar/377712 ^@ NM_014141.5(CNTNAP2):c.3360C>T (p.His1120=) http://identifiers.org/clinvar/390548 ^@ NM_152416.3(NDUFAF6):c.37T>C (p.Leu13=) http://identifiers.org/clinvar/377912 ^@ NM_002047.3(GARS):c.428-17C>T http://identifiers.org/clinvar/391737 ^@ NM_003165.3(STXBP1):c.768G>T (p.Leu256=) http://identifiers.org/clinvar/390748 ^@ NM_014244.4(ADAMTS2):c.-33C>T http://identifiers.org/clinvar/384009 ^@ NM_001130438.2(SPTAN1):c.6133A>G (p.Lys2045Glu) http://identifiers.org/clinvar/381065 ^@ NM_153033.4(KCTD7):c.493+13T>A http://identifiers.org/clinvar/378064 ^@ NM_006059.3(LAMC3):c.374-16G>A http://identifiers.org/clinvar/381565 ^@ NM_017780.3(CHD7):c.3059T>C (p.Leu1020Ser) http://identifiers.org/clinvar/393287 ^@ NM_000089.3(COL1A2):c.2342G>T (p.Gly781Val) http://identifiers.org/clinvar/384560 ^@ NM_152416.3(NDUFAF6):c.-16-9T>C http://identifiers.org/clinvar/392237 ^@ NM_013352.3(DSE):c.2547C>T (p.Pro849=) http://identifiers.org/clinvar/384409 ^@ NM_020822.2(KCNT1):c.1173C>T (p.Asn391=) http://identifiers.org/clinvar/390048 ^@ NM_003863.3(DPM2):c.-11C>T http://identifiers.org/clinvar/133012 ^@ NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) http://identifiers.org/clinvar/133062 ^@ NM_000540.2(RYR1):c.14228G>A (p.Gly4743Asp) http://identifiers.org/clinvar/133112 ^@ NM_000540.2(RYR1):c.2167+31C>G http://identifiers.org/clinvar/133162 ^@ NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val) http://identifiers.org/clinvar/133212 ^@ NM_000540.2(RYR1):c.7787C>T (p.Thr2596Ile) http://identifiers.org/clinvar/133288 ^@ NM_002633.2(PGM1):c.184G>C (p.Asp62His) http://identifiers.org/clinvar/133354 ^@ NM_000545.6(HNF1A):c.1309+52C>T http://identifiers.org/clinvar/133404 ^@ NM_003820.3(TNFRSF14):c.305-364C>A http://identifiers.org/clinvar/133454 ^@ NM_001014432.1(AKT1):c.1373T>C (p.Met458Thr) http://identifiers.org/clinvar/133998 ^@ NM_001077706.2(ECT2L):c.2180C>T (p.Thr727Ile) http://identifiers.org/clinvar/134050 ^@ NM_001429.3(EP300):c.5552C>T (p.Thr1851Ile) http://identifiers.org/clinvar/134100 ^@ NM_000400.3(ERCC2):c.1904C>T (p.Ala635Val) http://identifiers.org/clinvar/134150 ^@ NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) http://identifiers.org/clinvar/134200 ^@ NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) http://identifiers.org/clinvar/134250 ^@ NM_000135.2(FANCA):c.2072A>G (p.Asn691Ser) http://identifiers.org/clinvar/134301 ^@ NM_000136.2(FANCC):c.77C>T (p.Ser26Phe) http://identifiers.org/clinvar/134352 ^@ NM_022725.3(FANCF):c.1041G>T (p.Trp347Cys) http://identifiers.org/clinvar/134402 ^@ NM_000142.4(FGFR3):c.1031C>T (p.Ser344Phe) http://identifiers.org/clinvar/134452 ^@ NM_004119.2(FLT3):c.1073A>T (p.Asp358Val) http://identifiers.org/clinvar/134502 ^@ NM_004484.3(GPC3):c.1426A>T (p.Met476Leu) http://identifiers.org/clinvar/134552 ^@ NM_004972.3(JAK2):c.2171T>C (p.Ile724Thr) http://identifiers.org/clinvar/134602 ^@ NM_002253.2(KDR):c.1384T>G (p.Leu462Val) http://identifiers.org/clinvar/134653 ^@ NM_001127500.2(MET):c.1723C>A (p.Leu575Ile) http://identifiers.org/clinvar/134705 ^@ NM_003482.3(KMT2D):c.10024C>T (p.Arg3342Cys) http://identifiers.org/clinvar/134755 ^@ NM_170606.2(KMT2C):c.6275A>T (p.Asp2092Val) http://identifiers.org/clinvar/134805 ^@ NM_170606.2(KMT2C):c.11581G>A (p.Ala3861Thr) http://identifiers.org/clinvar/134858 ^@ NM_001128425.1(MUTYH):c.862A>G (p.Thr288Ala) http://identifiers.org/clinvar/134909 ^@ NM_017617.4(NOTCH1):c.1702G>A (p.Asp568Asn) http://identifiers.org/clinvar/134959 ^@ NM_017617.4(NOTCH1):c.701G>A (p.Arg234His) http://identifiers.org/clinvar/135009 ^@ NM_018313.4(PBRM1):c.4588G>A (p.Asp1530Asn) http://identifiers.org/clinvar/135059 ^@ NM_000534.4(PMS1):c.1888C>T (p.Arg630Ter) http://identifiers.org/clinvar/135110 ^@ NM_000264.3(PTCH1):c.1306G>A (p.Asp436Asn) http://identifiers.org/clinvar/135162 ^@ NM_004260.3(RECQL4):c.1072A>G (p.Met358Val) http://identifiers.org/clinvar/135192 ^@ NM_003000.2(SDHB):c.170A>G (p.His57Arg) http://identifiers.org/clinvar/135242 ^@ NM_014159.6(SETD2):c.4972T>G (p.Ser1658Ala) http://identifiers.org/clinvar/135293 ^@ NM_001127208.2(TET2):c.5449C>A (p.His1817Asn) http://identifiers.org/clinvar/135343 ^@ NM_006290.3(TNFAIP3):c.1364G>A (p.Gly455Glu) http://identifiers.org/clinvar/135394 ^@ NM_000369.2(TSHR):c.1600C>T (p.Arg534Cys) http://identifiers.org/clinvar/135444 ^@ NM_000553.4(WRN):c.443T>A (p.Leu148Gln) http://identifiers.org/clinvar/135494 ^@ NM_005089.3(ZRSR2):c.1303_1304delCGinsAT (p.Arg435Met) http://identifiers.org/clinvar/135544 ^@ NM_004629.1(FANCG):c.-1C>T http://identifiers.org/clinvar/135608 ^@ NM_002136.3(HNRNPA1):c.902A>G (p.Asn301Ser) http://identifiers.org/clinvar/135679 ^@ NM_000890.3(KCNJ5):c.452G>A (p.Gly151Glu) http://identifiers.org/clinvar/135730 ^@ NM_000051.3(ATM):c.1020C>A (p.Ala340=) http://identifiers.org/clinvar/135783 ^@ NM_000051.3(ATM):c.8602C>A (p.Leu2868Ile) http://identifiers.org/clinvar/135839 ^@ NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) http://identifiers.org/clinvar/135889 ^@ NM_000264.3(PTCH1):c.3306+5G>A http://identifiers.org/clinvar/135939 ^@ NM_000535.6(PMS2):c.1556A>G (p.Tyr519Cys) http://identifiers.org/clinvar/135991 ^@ NM_001128425.1(MUTYH):c.882C>T (p.Arg294=) http://identifiers.org/clinvar/136041 ^@ NM_002485.4(NBN):c.2196A>G (p.Gln732=) http://identifiers.org/clinvar/136092 ^@ NM_007294.3(BRCA1):c.81-2A>C http://identifiers.org/clinvar/136142 ^@ NM_032043.2(BRIP1):c.1363T>A (p.Tyr455Asn) http://identifiers.org/clinvar/136202 ^@ NM_130838.1(UBE3A):c.2065-2A>C http://identifiers.org/clinvar/136253 ^@ NM_014049.4(ACAD9):c.976G>A (p.Ala326Thr) http://identifiers.org/clinvar/136304 ^@ NM_020247.4(COQ8A):c.1399-12C>T http://identifiers.org/clinvar/136355 ^@ NM_000032.4(ALAS2):c.1438-19G>C http://identifiers.org/clinvar/187685 ^@ NM_001042492.2(NF1):c.7087A>G (p.Ile2363Val) http://identifiers.org/clinvar/185144 ^@ NM_002878.3(RAD51D):c.922A>G (p.Met308Val) http://identifiers.org/clinvar/184744 ^@ NM_007294.3(BRCA1):c.4594G>A (p.Val1532Ile) http://identifiers.org/clinvar/185744 ^@ NM_007294.3(BRCA1):c.4111G>C (p.Gly1371Arg) http://identifiers.org/clinvar/186344 ^@ NM_007294.3(BRCA1):c.2014A>G (p.Lys672Glu) http://identifiers.org/clinvar/187435 ^@ NM_007294.3(BRCA1):c.1286T>C (p.Ile429Thr) http://identifiers.org/clinvar/184694 ^@ NM_007294.3(BRCA1):c.975G>A (p.Lys325=) http://identifiers.org/clinvar/185444 ^@ NM_058216.2(RAD51C):c.458G>A (p.Gly153Asp) http://identifiers.org/clinvar/185594 ^@ NM_032043.2(BRIP1):c.3354T>C (p.Asn1118=) http://identifiers.org/clinvar/185494 ^@ NM_032043.2(BRIP1):c.1106A>G (p.Tyr369Cys) http://identifiers.org/clinvar/185194 ^@ NM_000455.4(STK11):c.972G>A (p.Pro324=) http://identifiers.org/clinvar/185094 ^@ NM_007194.3(CHEK2):c.775G>A (p.Gly259Ser) http://identifiers.org/clinvar/187789 ^@ NM_005215.3(DCC):c.527A>G (p.Asn176Ser) http://identifiers.org/clinvar/187868 ^@ NM_005957.4(MTHFR):c.176G>C (p.Trp59Ser) http://identifiers.org/clinvar/187918 ^@ NM_004409.4(DMPK):c.*224_*226[127] http://identifiers.org/clinvar/187968 ^@ NM_004409.4(DMPK):c.*224_*226[371] http://identifiers.org/clinvar/188018 ^@ NM_004409.4(DMPK):c.*224_*226[65] http://identifiers.org/clinvar/188170 ^@ NM_014946.3(SPAST):c.1729-?_*(1_?)del http://identifiers.org/clinvar/188119 ^@ NM_000251.2(MSH2):c.491G>A (p.Gly164Glu) http://identifiers.org/clinvar/188068 ^@ NM_000249.3(MLH1):c.319A>G (p.Ile107Val) http://identifiers.org/clinvar/188275 ^@ NM_000038.5(APC):c.647G>A (p.Arg216Gln) http://identifiers.org/clinvar/188327 ^@ NM_000051.3(ATM):c.3080A>G (p.His1027Arg) http://identifiers.org/clinvar/188381 ^@ NM_015346.3(ZFYVE26):c.1184G>T (p.Gly395Val) http://identifiers.org/clinvar/188221 ^@ NM_004360.4(CDH1):c.1793G>A (p.Arg598Gln) http://identifiers.org/clinvar/188588 ^@ NM_000256.3(MYBPC3):c.3737T>C (p.Phe1246Ser) http://identifiers.org/clinvar/188538 ^@ NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) http://identifiers.org/clinvar/188488 ^@ NM_004004.5(GJB2):c.355G>A (p.Glu119Lys) http://identifiers.org/clinvar/188438 ^@ NM_000059.3(BRCA2):c.7563C>A (p.Ile2521=) http://identifiers.org/clinvar/190188 ^@ NM_001110556.1(FLNA):c.3285C>A (p.Ala1095=) http://identifiers.org/clinvar/190239 ^@ NM_153334.6(SCARF2):c.441_457del17 (p.Trp148Alafs) http://identifiers.org/clinvar/190320 ^@ NM_153816.5(SNX14):c.2670delT (p.Cys890Terfs) http://identifiers.org/clinvar/190375 ^@ NM_019105.6(TNXB):c.12218G>A (p.Arg4073His) http://identifiers.org/clinvar/190462 ^@ NM_024572.3(GALNT14):c.1273C>T (p.Arg425Ter) http://identifiers.org/clinvar/227895 ^@ NM_001134363.2(RBM20):c.441C>T (p.His147=) http://identifiers.org/clinvar/227063 ^@ NM_005411.4(SFTPA1):c.342T>C (p.Phe114=) http://identifiers.org/clinvar/227995 ^@ NM_005422.2(TECTA):c.2445G>A (p.Thr815=) http://identifiers.org/clinvar/228195 ^@ NM_005709.3(USH1C):c.248+7_248+20delAGGAAGCCACCAGG http://identifiers.org/clinvar/227794 ^@ NM_001277269.1(OTOG):c.7621+12G>A http://identifiers.org/clinvar/227163 ^@ NM_005691.3(ABCC9):c.3993C>T (p.His1331=) http://identifiers.org/clinvar/226962 ^@ NM_173591.3(OTOGL):c.5957G>A (p.Arg1986Gln) http://identifiers.org/clinvar/227594 ^@ NM_000257.3(MYH7):c.114C>T (p.Phe38=) http://identifiers.org/clinvar/227314 ^@ NM_018139.2(DNAAF2):c.423C>T (p.Val141=) http://identifiers.org/clinvar/227364 ^@ NM_004452.3(ESRRB):c.315G>A (p.Val105=) http://identifiers.org/clinvar/227644 ^@ NM_016239.3(MYO15A):c.5526C>T (p.Ile1842=) http://identifiers.org/clinvar/227744 ^@ NM_001042492.2(NF1):c.5229T>C (p.Ala1743=) http://identifiers.org/clinvar/227694 ^@ NM_003803.3(MYOM1):c.2062A>T (p.Thr688Ser) http://identifiers.org/clinvar/227514 ^@ NM_144612.6(LOXHD1):c.2684C>G (p.Thr895Ser) http://identifiers.org/clinvar/228045 ^@ NM_144991.2(TSPEAR):c.1338C>A (p.Gly446=) http://identifiers.org/clinvar/231196 ^@ NM_001128425.1(MUTYH):c.1161T>A (p.Ile387=) http://identifiers.org/clinvar/230896 ^@ NM_001128425.1(MUTYH):c.1098C>A (p.Pro366=) http://identifiers.org/clinvar/230996 ^@ NM_000465.3(BARD1):c.2029T>C (p.Phe677Leu) http://identifiers.org/clinvar/233486 ^@ NM_000465.3(BARD1):c.1720G>A (p.Gly574Ser) http://identifiers.org/clinvar/230846 ^@ NM_000465.3(BARD1):c.130C>G (p.Leu44Val) http://identifiers.org/clinvar/233236 ^@ NM_000465.3(BARD1):c.6G>T (p.Pro2=) http://identifiers.org/clinvar/231796 ^@ NM_000251.2(MSH2):c.-68-86G>A http://identifiers.org/clinvar/233436 ^@ NM_000179.2(MSH6):c.3615A>G (p.Thr1205=) http://identifiers.org/clinvar/231746 ^@ NM_000179.2(MSH6):c.3732_3734delATT (p.Leu1244del) http://identifiers.org/clinvar/263871 ^@ NM_005902.3(SMAD3):c.1243G>C (p.Gly415Arg) http://identifiers.org/clinvar/264071 ^@ NM_002474.2(MYH11):c.5652G>A (p.Arg1884=) http://identifiers.org/clinvar/264288 ^@ NM_003098.2(SNTA1):c.619C>T (p.Arg207Trp) http://identifiers.org/clinvar/264021 ^@ NM_003098.2(SNTA1):c.25C>T (p.Arg9Cys) http://identifiers.org/clinvar/264638 ^@ NC_000018.9:g.59821582_59824939del http://identifiers.org/clinvar/264702 ^@ NM_145331.2(MAP3K7):c.130_135delAGAGGA (p.Arg44_Gly45del) http://identifiers.org/clinvar/265507 ^@ NM_000302.3(PLOD1):c.1651-2A>G http://identifiers.org/clinvar/265407 ^@ NM_000702.3(ATP1A2):c.1777C>T (p.Arg593Trp) http://identifiers.org/clinvar/265457 ^@ NM_001100.3(ACTA1):c.430C>T (p.Leu144Phe) http://identifiers.org/clinvar/265608 ^@ NM_145207.2(SPATA5):c.1069G>T (p.Gly357Ter) http://identifiers.org/clinvar/265256 ^@ NM_016038.3(SBDS):c.120delG (p.Ser41Alafs) http://identifiers.org/clinvar/265307 ^@ NM_002834.4(PTPN11):c.1520C>A (p.Thr507Lys) http://identifiers.org/clinvar/265708 ^@ NM_000282.3(PCCA):c.806A>G (p.His269Arg) http://identifiers.org/clinvar/265558 ^@ NM_024675.3(PALB2):c.1650delA (p.Lys550Asnfs) http://identifiers.org/clinvar/265357 ^@ NM_000546.5(TP53):c.734G>C (p.Gly245Ala) http://identifiers.org/clinvar/265658 ^@ NM_018486.2(HDAC8):c.907G>T (p.Gly303Ter) http://identifiers.org/clinvar/265797 ^@ NC_000023.10:g.152768438_152795976del27539 http://identifiers.org/clinvar/265947 ^@ NM_174936.3(PCSK9):c.1681+63C>T http://identifiers.org/clinvar/265897 ^@ NM_000527.4(LDLR):c.68-?_313+?del http://identifiers.org/clinvar/266002 ^@ NM_000495.4(COL4A5):c.3148C>G (p.Pro1050Ala) http://identifiers.org/clinvar/266079 ^@ NM_174905.3(FAM98C):c.844C>T (p.Arg282Ter) http://identifiers.org/clinvar/266679 ^@ NM_000059.3(BRCA2):c.212dupA (p.Tyr71Terfs) http://identifiers.org/clinvar/266829 ^@ NM_000059.3(BRCA2):c.473C>A (p.Ser158Ter) http://identifiers.org/clinvar/266629 ^@ NM_000059.3(BRCA2):c.1334delC (p.Ser445Phefs) http://identifiers.org/clinvar/266729 ^@ NM_000059.3(BRCA2):c.2960dupA (p.Asn987Lysfs) http://identifiers.org/clinvar/266779 ^@ NM_000059.3(BRCA2):c.3867dupA (p.Cys1290Metfs) http://identifiers.org/clinvar/266879 ^@ NM_000059.3(BRCA2):c.5550_5551delAA (p.Lys1850Asnfs) http://identifiers.org/clinvar/266529 ^@ NM_007294.3(BRCA1):c.5161C>T (p.Gln1721Ter) http://identifiers.org/clinvar/266479 ^@ NM_007294.3(BRCA1):c.4527C>A (p.Tyr1509Ter) http://identifiers.org/clinvar/266429 ^@ NM_007294.3(BRCA1):c.4016_4017insTT (p.Glu1339Aspfs) http://identifiers.org/clinvar/266379 ^@ NM_007294.3(BRCA1):c.3504_3505insA (p.Asp1169Argfs) http://identifiers.org/clinvar/266329 ^@ NM_007294.3(BRCA1):c.3020_3023delCAAT (p.Ser1007Cysfs) http://identifiers.org/clinvar/266279 ^@ NM_007294.3(BRCA1):c.2551G>T (p.Glu851Ter) http://identifiers.org/clinvar/266229 ^@ NM_007294.3(BRCA1):c.2161_2162insG (p.Phe721Cysfs) http://identifiers.org/clinvar/266179 ^@ NM_007294.3(BRCA1):c.1651_1652insC (p.Ser551Thrfs) http://identifiers.org/clinvar/266579 ^@ NM_007294.3(BRCA1):c.788dupG (p.Ser264Terfs) http://identifiers.org/clinvar/266129 ^@ NM_007294.3(BRCA1):c.101_105delCTGTC (p.Pro34Leufs) http://identifiers.org/clinvar/267249 ^@ NM_015247.2(CYLD):c.2299A>T (p.Lys767Ter) http://identifiers.org/clinvar/267325 ^@ NC_000023.11:g.(?_31173533)_(33211318_?)dup http://identifiers.org/clinvar/280732 ^@ NM_001100.3(ACTA1):c.442G>C (p.Gly148Arg) http://identifiers.org/clinvar/290908 ^@ NM_000288.3(PEX7):c.330C>T (p.His110=) http://identifiers.org/clinvar/290958 ^@ NM_000435.2(NOTCH3):c.3328-1G>A http://identifiers.org/clinvar/291008 ^@ NM_001298.2(CNGA3):c.1034A>G (p.His345Arg) http://identifiers.org/clinvar/291058 ^@ NM_004643.3(PABPN1):c.787C>A (p.Arg263=) http://identifiers.org/clinvar/291108 ^@ NM_001267550.2(TTN):c.22942_22956delGAACTTCATGAAAGT (p.Glu7648_Ser7652del) http://identifiers.org/clinvar/291158 ^@ NM_022455.4(NSD1):c.5021G>C (p.Cys1674Ser) http://identifiers.org/clinvar/291209 ^@ NM_001848.2(COL6A1):c.750C>A (p.Phe250Leu) http://identifiers.org/clinvar/291259 ^@ NM_000784.3(CYP27A1):c.1114G>A (p.Gly372Arg) http://identifiers.org/clinvar/291374 ^@ NM_001918.3(DBT):c.*9105A>G http://identifiers.org/clinvar/291424 ^@ NM_001918.3(DBT):c.*3233C>T http://identifiers.org/clinvar/291474 ^@ NM_001854.3(COL11A1):c.*1239T>C http://identifiers.org/clinvar/291524 ^@ NM_001854.3(COL11A1):c.2655+3A>G http://identifiers.org/clinvar/291666 ^@ NM_015074.3(KIF1B):c.*4664_*4665insG http://identifiers.org/clinvar/291716 ^@ NM_013296.4(GPSM2):c.*467G>T http://identifiers.org/clinvar/291616 ^@ NM_015074.3(KIF1B):c.*2019C>T http://identifiers.org/clinvar/291574 ^@ NM_015074.3(KIF1B):c.3697C>T (p.Pro1233Ser) http://identifiers.org/clinvar/291816 ^@ NM_013319.2(UBIAD1):c.-195G>A http://identifiers.org/clinvar/292066 ^@ NM_138959.2(VANGL1):c.*3417C>T http://identifiers.org/clinvar/291966 ^@ NM_002524.4(NRAS):c.*935dupA http://identifiers.org/clinvar/291766 ^@ NM_007375.3(TARDBP):c.*2360C>T http://identifiers.org/clinvar/291916 ^@ NM_003051.3(SLC16A1):c.-243dupC http://identifiers.org/clinvar/292316 ^@ NM_006623.3(PHGDH):c.916A>G (p.Met306Val) http://identifiers.org/clinvar/292016 ^@ NM_138959.2(VANGL1):c.*95_*97delTTC http://identifiers.org/clinvar/291866 ^@ NM_003051.3(SLC16A1):c.508G>A (p.Gly170Ser) http://identifiers.org/clinvar/292266 ^@ NM_000198.3(HSD3B2):c.789C>G (p.Ser263Arg) http://identifiers.org/clinvar/292366 ^@ NM_014874.3(MFN2):c.-249T>A http://identifiers.org/clinvar/292416 ^@ NM_213653.3(HFE2):c.-203C>T http://identifiers.org/clinvar/292116 ^@ NM_001232.3(CASQ2):c.*1052A>G http://identifiers.org/clinvar/292166 ^@ NM_005957.4(MTHFR):c.*4076_*4077dupAA http://identifiers.org/clinvar/292566 ^@ NM_019032.5(ADAMTSL4):c.3139C>A (p.Arg1047=) http://identifiers.org/clinvar/292216 ^@ NM_005957.4(MTHFR):c.*736C>G http://identifiers.org/clinvar/293455 ^@ NM_005149.2(TBX19):c.194A>G (p.Lys65Arg) http://identifiers.org/clinvar/293505 ^@ NM_005149.2(TBX19):c.*1325T>C http://identifiers.org/clinvar/292466 ^@ NM_005267.4(GJA8):c.385G>A (p.Val129Ile) http://identifiers.org/clinvar/292516 ^@ NM_019032.5(ADAMTSL4):c.88G>A (p.Gly30Arg) http://identifiers.org/clinvar/293605 ^@ NM_000130.4(F5):c.3504A>C (p.Thr1168=) http://identifiers.org/clinvar/292616 ^@ NM_000449.3(RFX5):c.858+13G>A http://identifiers.org/clinvar/294005 ^@ NM_005562.2(LAMC2):c.1637C>A (p.Ala546Asp) http://identifiers.org/clinvar/293905 ^@ NM_002065.6(GLUL):c.*1772C>G http://identifiers.org/clinvar/293955 ^@ NM_002065.6(GLUL):c.-241C>T http://identifiers.org/clinvar/294105 ^@ NM_031935.2(HMCN1):c.1152A>G (p.Lys384=) http://identifiers.org/clinvar/294155 ^@ NM_031935.2(HMCN1):c.4857T>C (p.His1619=) http://identifiers.org/clinvar/294205 ^@ NM_031935.2(HMCN1):c.9047-12A>G http://identifiers.org/clinvar/294305 ^@ NM_031935.2(HMCN1):c.16414+12T>C http://identifiers.org/clinvar/294355 ^@ NM_003748.3(ALDH4A1):c.*223G>A http://identifiers.org/clinvar/294405 ^@ NM_024529.4(CDC73):c.-186C>G http://identifiers.org/clinvar/293555 ^@ NM_000130.4(F5):c.*891A>G http://identifiers.org/clinvar/294605 ^@ NM_018136.4(ASPM):c.8685A>C (p.Ala2895=) http://identifiers.org/clinvar/294655 ^@ NM_018136.4(ASPM):c.1185A>G (p.Gln395=) http://identifiers.org/clinvar/294755 ^@ NM_000069.2(CACNA1S):c.1881C>T (p.Tyr627=) http://identifiers.org/clinvar/293655 ^@ NM_152281.2(GORAB):c.536G>A (p.Arg179Gln) http://identifiers.org/clinvar/295155 ^@ NM_005216.4(DDOST):c.403+9G>A http://identifiers.org/clinvar/295055 ^@ NM_005216.4(DDOST):c.*225T>G http://identifiers.org/clinvar/335971 ^@ NM_005633.3(SOS1):c.*3592C>T http://identifiers.org/clinvar/343647 ^@ NM_000935.2(PLOD2):c.1457A>G (p.Lys486Arg) http://identifiers.org/clinvar/336071 ^@ NM_022437.2(ABCG8):c.642G>A (p.Ser214=) http://identifiers.org/clinvar/336121 ^@ NM_133259.3(LRPPRC):c.*1449_*1456dupTTTTTTTT http://identifiers.org/clinvar/344586 ^@ NM_000461.4(THRB):c.*2661delC http://identifiers.org/clinvar/336478 ^@ NM_000145.3(FSHR):c.*111T>C http://identifiers.org/clinvar/343797 ^@ NM_174878.2(CLRN1):c.*1165C>G http://identifiers.org/clinvar/343897 ^@ NM_005677.3(COLQ):c.-121_-120delGC http://identifiers.org/clinvar/343947 ^@ NM_024996.5(GFM1):c.*713C>T http://identifiers.org/clinvar/344686 ^@ NM_003242.5(TGFBR2):c.*858C>T http://identifiers.org/clinvar/344736 ^@ NM_015141.3(GPD1L):c.*330C>T http://identifiers.org/clinvar/344786 ^@ NM_000404.3(GLB1):c.1530G>A (p.Thr510=) http://identifiers.org/clinvar/344836 ^@ NM_006371.4(CRTAP):c.*1361G>A http://identifiers.org/clinvar/342747 ^@ NM_000187.3(HGD):c.474G>T (p.Pro158=) http://identifiers.org/clinvar/342647 ^@ NM_020754.3(ARHGAP31):c.1614A>G (p.Glu538=) http://identifiers.org/clinvar/342897 ^@ NM_053025.3(MYLK):c.1297T>C (p.Phe433Leu) http://identifiers.org/clinvar/342797 ^@ NM_000388.3(CASR):c.930C>T (p.Tyr310=) http://identifiers.org/clinvar/342847 ^@ NM_053025.3(MYLK):c.*713C>A http://identifiers.org/clinvar/343047 ^@ NM_015869.4(PPARG):c.891C>G (p.Pro297=) http://identifiers.org/clinvar/342947 ^@ NM_000373.3(UMPS):c.*1050C>T http://identifiers.org/clinvar/343347 ^@ NM_014382.3(ATP2C1):c.*1264T>C http://identifiers.org/clinvar/343397 ^@ NM_003571.3(BFSP2):c.5G>A (p.Ser2Asn) http://identifiers.org/clinvar/343597 ^@ NM_001184.3(ATR):c.5987T>C (p.Met1996Thr) http://identifiers.org/clinvar/362001 ^@ NM_003235.4(TG):c.7824C>A (p.Val2608=) http://identifiers.org/clinvar/362101 ^@ NM_020427.2(SLURP1):c.179-3C>T http://identifiers.org/clinvar/362151 ^@ NM_000497.3(CYP11B1):c.1090T>C (p.Leu364=) http://identifiers.org/clinvar/353863 ^@ NM_002203.3(ITGA2):c.*4006_*4010delGATTT http://identifiers.org/clinvar/358752 ^@ NM_012338.3(TSPAN12):c.*1243A>T http://identifiers.org/clinvar/359252 ^@ NM_014141.5(CNTNAP2):c.*3629T>C http://identifiers.org/clinvar/363240 ^@ NM_005914.3(MCM4):c.*125A>G http://identifiers.org/clinvar/354952 ^@ NM_014028.3(OSTM1):c.*2035A>G http://identifiers.org/clinvar/363290 ^@ NM_006269.1(RP1):c.3198G>A (p.Glu1066=) http://identifiers.org/clinvar/355002 ^@ NM_004752.3(GCM2):c.*521C>T http://identifiers.org/clinvar/363390 ^@ NM_017813.4(IMPAD1):c.*980delT http://identifiers.org/clinvar/363690 ^@ NM_017866.5(TMEM70):c.462C>A (p.Ile154=) http://identifiers.org/clinvar/363840 ^@ NM_000067.2(CA2):c.*374A>G http://identifiers.org/clinvar/355603 ^@ NM_003764.3(STX11):c.585C>A (p.Ala195=) http://identifiers.org/clinvar/364240 ^@ NM_014425.4(INVS):c.*465_*466insCACACA http://identifiers.org/clinvar/355753 ^@ NM_203395.2(IYD):c.*3405delT http://identifiers.org/clinvar/355853 ^@ NM_033071.3(SYNE1):c.17470-11T>C http://identifiers.org/clinvar/364490 ^@ NM_001079802.1(FKTN):c.*42delA http://identifiers.org/clinvar/355653 ^@ NM_003764.3(STX11):c.*3670C>G http://identifiers.org/clinvar/364590 ^@ NM_003640.4(IKBKAP):c.-177C>T http://identifiers.org/clinvar/356153 ^@ NM_001080.3(ALDH5A1):c.*659T>C http://identifiers.org/clinvar/355903 ^@ NM_033071.3(SYNE1):c.7875C>T (p.Ser2625=) http://identifiers.org/clinvar/360741 ^@ NM_001001547.2(CD36):c.-325G>A http://identifiers.org/clinvar/356303 ^@ NM_006929.4(SKIV2L):c.-249C>G http://identifiers.org/clinvar/356253 ^@ NM_000063.5(C2):c.1716G>C (p.Lys572Asn) http://identifiers.org/clinvar/361291 ^@ NM_178857.5(RP1L1):c.4020A>G (p.Glu1340=) http://identifiers.org/clinvar/361341 ^@ NM_178857.5(RP1L1):c.2568G>A (p.Pro856=) http://identifiers.org/clinvar/361551 ^@ NM_014112.4(TRPS1):c.*3268T>C http://identifiers.org/clinvar/361492 ^@ NM_001715.2(BLK):c.1089G>A (p.Ala363=) http://identifiers.org/clinvar/361751 ^@ NM_004519.3(KCNQ3):c.*7504C>G http://identifiers.org/clinvar/366030 ^@ NM_024757.4(EHMT1):c.3462-14C>T http://identifiers.org/clinvar/361801 ^@ NM_004519.3(KCNQ3):c.*4817G>A http://identifiers.org/clinvar/366780 ^@ NM_003995.3(NPR2):c.649A>T (p.Ile217Phe) http://identifiers.org/clinvar/311530 ^@ NM_014363.5(SACS):c.6643T>C (p.Phe2215Leu) http://identifiers.org/clinvar/366930 ^@ NM_001042413.1(GLIS3):c.*1760T>G http://identifiers.org/clinvar/364090 ^@ NM_000380.3(XPA):c.172+11C>T http://identifiers.org/clinvar/312130 ^@ NM_020751.2(COG6):c.69G>A (p.Gly23=) http://identifiers.org/clinvar/304071 ^@ NM_000360.3(TH):c.1105-5C>G http://identifiers.org/clinvar/312280 ^@ NM_000321.2(RB1):c.-81G>A http://identifiers.org/clinvar/312380 ^@ NM_000053.3(ATP7B):c.3422C>G (p.Pro1141Arg) http://identifiers.org/clinvar/312430 ^@ NM_006493.2(CLN5):c.*155C>T http://identifiers.org/clinvar/312480 ^@ NM_052910.2(SLITRK1):c.*1572C>G http://identifiers.org/clinvar/364140 ^@ NM_004612.3(TGFBR1):c.*2104_*2105insGT http://identifiers.org/clinvar/364190 ^@ NM_004612.3(TGFBR1):c.*4623G>C http://identifiers.org/clinvar/298504 ^@ NM_021830.4(TWNK):c.1853C>T (p.Pro618Leu) http://identifiers.org/clinvar/313219 ^@ NM_020937.3(FANCM):c.4606A>G (p.Asn1536Asp) http://identifiers.org/clinvar/313319 ^@ NM_002863.4(PYGL):c.2380-15A>G http://identifiers.org/clinvar/299343 ^@ NM_001081.3(CUBN):c.*297C>T http://identifiers.org/clinvar/299393 ^@ NM_001081.3(CUBN):c.8831T>G (p.Met2944Arg) http://identifiers.org/clinvar/313719 ^@ NM_000347.5(SPTB):c.5112G>T (p.Gln1704His) http://identifiers.org/clinvar/305123 ^@ NM_004183.3(BEST1):c.954C>G (p.Ser318=) http://identifiers.org/clinvar/305173 ^@ NM_032667.6(BSCL2):c.1042+14T>G http://identifiers.org/clinvar/314069 ^@ NM_031427.3(DNAL1):c.*2871A>G http://identifiers.org/clinvar/299943 ^@ NM_020975.4(RET):c.*1797T>C http://identifiers.org/clinvar/314569 ^@ NM_013382.5(POMT2):c.-199C>T http://identifiers.org/clinvar/300043 ^@ NM_000124.3(ERCC6):c.3774A>G (p.Lys1258=) http://identifiers.org/clinvar/299493 ^@ NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) http://identifiers.org/clinvar/300093 ^@ NM_000124.3(ERCC6):c.595C>G (p.Leu199Val) http://identifiers.org/clinvar/299543 ^@ NM_001081.3(CUBN):c.489+14T>C http://identifiers.org/clinvar/300143 ^@ NM_000242.2(MBL2):c.*324C>T http://identifiers.org/clinvar/300193 ^@ NM_033056.3(PCDH15):c.1649T>G (p.Val550Gly) http://identifiers.org/clinvar/299693 ^@ NM_014317.4(PDSS1):c.97G>A (p.Gly33Arg) http://identifiers.org/clinvar/315119 ^@ NM_177438.2(DICER1):c.-192C>G http://identifiers.org/clinvar/306186 ^@ NM_000260.3(MYO7A):c.4118G>A (p.Arg1373Gln) http://identifiers.org/clinvar/300493 ^@ NM_022124.5(CDH23):c.*510G>A http://identifiers.org/clinvar/306286 ^@ NM_024698.5(SLC25A22):c.-317C>G http://identifiers.org/clinvar/300643 ^@ NM_004273.4(CHST3):c.*3131G>A http://identifiers.org/clinvar/306387 ^@ NM_012193.3(FZD4):c.*1050T>G http://identifiers.org/clinvar/306537 ^@ NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) http://identifiers.org/clinvar/306637 ^@ NM_139319.2(SLC17A8):c.*39A>C http://identifiers.org/clinvar/329181 ^@ NM_033064.4(ATCAY):c.*1423T>A http://identifiers.org/clinvar/311230 ^@ NM_000131.4(F7):c.*82T>C http://identifiers.org/clinvar/329431 ^@ NM_152296.4(ATP1A3):c.153+7C>T http://identifiers.org/clinvar/329531 ^@ NM_000400.3(ERCC2):c.68_70delCCT (p.Ser23del) http://identifiers.org/clinvar/329581 ^@ NM_025136.3(OPA3):c.*5774G>C http://identifiers.org/clinvar/329631 ^@ NM_025136.3(OPA3):c.*3114_*3116dupAGC http://identifiers.org/clinvar/318100 ^@ NM_001143979.1(NDE1):c.948-5828C>T http://identifiers.org/clinvar/329781 ^@ NM_000554.5(CRX):c.*3279C>T http://identifiers.org/clinvar/329831 ^@ NM_002103.4(GYS1):c.-19C>A http://identifiers.org/clinvar/311580 ^@ NM_014363.5(SACS):c.-367C>A http://identifiers.org/clinvar/311680 ^@ NM_004795.3(KL):c.273T>C (p.Asp91=) http://identifiers.org/clinvar/330131 ^@ NM_024075.4(TSEN34):c.765C>T (p.His255=) http://identifiers.org/clinvar/311780 ^@ NM_000538.3(RFXAP):c.-105C>A http://identifiers.org/clinvar/330181 ^@ NM_206828.3(NLRP7):c.531C>T (p.His177=) http://identifiers.org/clinvar/318550 ^@ NM_001083614.1(EARS2):c.949G>T (p.Gly317Cys) http://identifiers.org/clinvar/311830 ^@ NM_001127217.2(SMAD9):c.*3262T>C http://identifiers.org/clinvar/330231 ^@ NM_001015878.1(AURKC):c.436-4A>G http://identifiers.org/clinvar/318650 ^@ NM_020705.2(TBC1D24):c.*1728C>T http://identifiers.org/clinvar/311880 ^@ NM_001127217.2(SMAD9):c.*573T>C http://identifiers.org/clinvar/330281 ^@ NM_000064.3(C3):c.4535G>A (p.Arg1512His) http://identifiers.org/clinvar/318800 ^@ NM_001770.5(CD19):c.390T>A (p.Gly130=) http://identifiers.org/clinvar/312030 ^@ NM_207361.5(FREM2):c.8461C>G (p.Pro2821Ala) http://identifiers.org/clinvar/312230 ^@ NM_003701.3(TNFSF11):c.148G>A (p.Val50Met) http://identifiers.org/clinvar/319100 ^@ NM_000243.2(MEFV):c.*467_*469delTTG http://identifiers.org/clinvar/338017 ^@ NM_006899.4(IDH3B):c.917G>A (p.Gly306Asp) http://identifiers.org/clinvar/319651 ^@ NM_015272.4(RPGRIP1L):c.3179C>T (p.Ser1060Phe) http://identifiers.org/clinvar/338317 ^@ NM_000557.4(GDF5):c.1104C>T (p.Thr368=) http://identifiers.org/clinvar/338367 ^@ NM_153638.3(PANK2):c.*218A>G http://identifiers.org/clinvar/311280 ^@ NM_000504.3(F10):c.1215C>T (p.Ala405=) http://identifiers.org/clinvar/338467 ^@ NM_000457.4(HNF4A):c.*2182G>A http://identifiers.org/clinvar/338517 ^@ NM_000308.3(CTSA):c.-237delT http://identifiers.org/clinvar/311430 ^@ NM_002010.2(FGF9):c.*272_*273dupGT http://identifiers.org/clinvar/311480 ^@ NM_000231.2(SGCG):c.479T>C (p.Val160Ala) http://identifiers.org/clinvar/338617 ^@ NM_030777.3(SLC2A10):c.*958C>T http://identifiers.org/clinvar/338717 ^@ NM_006420.2(ARFGEF2):c.*819C>T http://identifiers.org/clinvar/338768 ^@ NM_020436.4(SALL4):c.2268C>T (p.Ser756=) http://identifiers.org/clinvar/313269 ^@ NM_002408.3(MGAT2):c.*825A>G http://identifiers.org/clinvar/339068 ^@ NM_001001433.2(STX16):c.*952C>A http://identifiers.org/clinvar/313419 ^@ NM_172337.2(OTX2):c.356G>C (p.Arg119Pro) http://identifiers.org/clinvar/313519 ^@ NM_182914.2(SYNE2):c.5893A>G (p.Lys1965Glu) http://identifiers.org/clinvar/311980 ^@ NM_207361.5(FREM2):c.4726C>G (p.Pro1576Ala) http://identifiers.org/clinvar/320940 ^@ NM_001127464.2(ZNF469):c.5404G>T (p.Ala1802Ser) http://identifiers.org/clinvar/312180 ^@ NM_014252.3(SLC25A15):c.552T>C (p.Tyr184=) http://identifiers.org/clinvar/313769 ^@ NM_000347.5(SPTB):c.1303G>C (p.Glu435Gln) http://identifiers.org/clinvar/339857 ^@ NM_001754.4(RUNX1):c.*683G>T http://identifiers.org/clinvar/313969 ^@ NM_000021.3(PSEN1):c.*1626C>A http://identifiers.org/clinvar/321440 ^@ NM_002386.3(MC1R):c.792C>T (p.Ile264=) http://identifiers.org/clinvar/312330 ^@ NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) http://identifiers.org/clinvar/314019 ^@ NM_031427.3(DNAL1):c.498A>T (p.Ala166=) http://identifiers.org/clinvar/314169 ^@ NM_005589.3(ALDH6A1):c.1557_1559delAGA (p.Glu519del) http://identifiers.org/clinvar/340257 ^@ NM_130445.3(COL18A1):c.2788G>A (p.Gly930Ser) http://identifiers.org/clinvar/312580 ^@ NM_005708.4(GPC6):c.*1472G>C http://identifiers.org/clinvar/326742 ^@ NM_015559.2(SETBP1):c.1581T>G (p.Ala527=) http://identifiers.org/clinvar/327192 ^@ NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACA http://identifiers.org/clinvar/327292 ^@ NM_001083962.1(TCF4):c.*788G>T http://identifiers.org/clinvar/329131 ^@ NM_000540.2(RYR1):c.13699G>T (p.Ala4567Ser) http://identifiers.org/clinvar/329231 ^@ NM_016941.3(DLL3):c.452G>A (p.Arg151His) http://identifiers.org/clinvar/329331 ^@ NM_003573.2(LTBP4):c.*86C>T http://identifiers.org/clinvar/329681 ^@ NM_025136.3(OPA3):c.*272G>A http://identifiers.org/clinvar/330031 ^@ NM_144687.3(NLRP12):c.1349C>T (p.Pro450Leu) http://identifiers.org/clinvar/337917 ^@ NM_198994.2(TGM6):c.989+11C>T http://identifiers.org/clinvar/329031 ^@ NM_000540.2(RYR1):c.4637A>G (p.Lys1546Arg) http://identifiers.org/clinvar/337967 ^@ NM_014588.5(VSX1):c.315C>A (p.Asp105Glu) http://identifiers.org/clinvar/338117 ^@ NM_015338.5(ASXL1):c.4098C>T (p.Ser1366=) http://identifiers.org/clinvar/329281 ^@ NM_181882.2(PRX):c.833C>T (p.Pro278Leu) http://identifiers.org/clinvar/329381 ^@ NM_001022.3(RPS19):c.-274T>C http://identifiers.org/clinvar/329481 ^@ NM_212550.4(BLOC1S3):c.*285T>A http://identifiers.org/clinvar/338567 ^@ NM_001250.5(CD40):c.-55C>G http://identifiers.org/clinvar/329731 ^@ NM_000554.5(CRX):c.*972C>G http://identifiers.org/clinvar/329881 ^@ NM_030973.3(MED25):c.1101+4G>A http://identifiers.org/clinvar/329981 ^@ NM_030657.3(LIM2):c.-29C>G http://identifiers.org/clinvar/337767 ^@ NM_000214.2(JAG1):c.-296_-294delAAG http://identifiers.org/clinvar/337867 ^@ NM_000361.2(THBD):c.*562G>C http://identifiers.org/clinvar/340157 ^@ NM_000211.4(ITGB2):c.1225-10T>A http://identifiers.org/clinvar/340207 ^@ NM_130445.3(COL18A1):c.801C>T (p.Gly267=) http://identifiers.org/clinvar/338217 ^@ NM_003098.2(SNTA1):c.651G>A (p.Leu217=) http://identifiers.org/clinvar/338667 ^@ NM_000311.4(PRNP):c.*936C>T http://identifiers.org/clinvar/338818 ^@ NM_000782.4(CYP24A1):c.1098A>T (p.Pro366=) http://identifiers.org/clinvar/341008 ^@ NM_022081.5(HPS4):c.1479T>A (p.Asp493Glu) http://identifiers.org/clinvar/338968 ^@ NM_004738.4(VAPB):c.*3118C>T http://identifiers.org/clinvar/341108 ^@ NM_000268.3(NF2):c.*1297A>G http://identifiers.org/clinvar/392987 ^@ NM_018718.2(CEP41):c.851G>A (p.Arg284Gln) http://identifiers.org/clinvar/381615 ^@ NM_001613.2(ACTA2):c.554G>A (p.Arg185Gln) http://identifiers.org/clinvar/384059 ^@ NM_000051.3(ATM):c.5127G>A (p.Gln1709=) http://identifiers.org/clinvar/382256 ^@ NM_000051.3(ATM):c.7629T>C (p.Asn2543=) http://identifiers.org/clinvar/390598 ^@ NM_000051.3(ATM):c.8787-14G>A http://identifiers.org/clinvar/378264 ^@ NM_006393.2(NEBL):c.-47C>T http://identifiers.org/clinvar/388309 ^@ NM_153033.4(KCTD7):c.315-10T>C http://identifiers.org/clinvar/378012 ^@ NM_000218.2(KCNQ1):c.386+16215C>T http://identifiers.org/clinvar/392837 ^@ NM_014000.2(VCL):c.1744-1G>T http://identifiers.org/clinvar/389748 ^@ NM_005609.3(PYGM):c.1518+7G>C http://identifiers.org/clinvar/390798 ^@ NM_000445.4(PLEC):c.12645C>T (p.Gly4215=) http://identifiers.org/clinvar/392637 ^@ NM_006393.2(NEBL):c.369+18T>C http://identifiers.org/clinvar/384109 ^@ NM_000051.3(ATM):c.1329A>C (p.Leu443=) http://identifiers.org/clinvar/380663 ^@ NM_000742.3(CHRNA2):c.1464+20G>A http://identifiers.org/clinvar/390248 ^@ NM_006231.3(POLE):c.4005+7A>G http://identifiers.org/clinvar/380764 ^@ NM_006231.3(POLE):c.3939G>A (p.Thr1313=) http://identifiers.org/clinvar/377762 ^@ NM_001909.4(CTSD):c.*10C>T http://identifiers.org/clinvar/384910 ^@ NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=) http://identifiers.org/clinvar/388259 ^@ NM_014908.3(DOLK):c.1114T>A (p.Phe372Ile) http://identifiers.org/clinvar/384660 ^@ NM_000093.4(COL5A1):c.4608+19C>T http://identifiers.org/clinvar/390398 ^@ NM_030813.5(CLPB):c.1011C>T (p.Phe337=) http://identifiers.org/clinvar/389648 ^@ NM_015531.5(C2CD3):c.4487G>A (p.Arg1496Gln) http://identifiers.org/clinvar/392537 ^@ NM_017617.4(NOTCH1):c.6363C>T (p.Ser2121=) http://identifiers.org/clinvar/388209 ^@ NM_007327.3(GRIN1):c.66C>T (p.Cys22=) http://identifiers.org/clinvar/378419 ^@ NM_013382.5(POMT2):c.1762C>T (p.Arg588Ter) http://identifiers.org/clinvar/378368 ^@ NM_004572.3(PKP2):c.1230C>T (p.Asp410=) http://identifiers.org/clinvar/378620 ^@ NM_005902.3(SMAD3):c.207-13C>T http://identifiers.org/clinvar/393237 ^@ NM_004563.3(PCK2):c.310C>T (p.Arg104Ter) http://identifiers.org/clinvar/385010 ^@ NM_000053.3(ATP7B):c.1760C>T (p.Thr587Met) http://identifiers.org/clinvar/381665 ^@ NM_000161.2(GCH1):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/392487 ^@ NM_178842.4(CERS3):c.161G>A (p.Arg54His) http://identifiers.org/clinvar/392587 ^@ NM_014844.4(TECPR2):c.2395-19C>T http://identifiers.org/clinvar/381165 ^@ NM_000034.3(ALDOA):c.811C>T (p.Leu271=) http://identifiers.org/clinvar/380713 ^@ NM_024698.5(SLC25A22):c.177C>T (p.Ser59=) http://identifiers.org/clinvar/377862 ^@ NM_000138.4(FBN1):c.6852T>C (p.Pro2284=) http://identifiers.org/clinvar/392787 ^@ NM_003119.3(SPG7):c.1760A>C (p.His587Pro) http://identifiers.org/clinvar/81 ^@ LIPA, IVS8, G-A, +1 http://identifiers.org/clinvar/87 ^@ HPSE2, EX3DEL http://identifiers.org/clinvar/606 ^@ PAH, SER349ARG http://identifiers.org/clinvar/670 ^@ PROC, 1-BP DEL, 8857G http://identifiers.org/clinvar/769 ^@ NM_015702.2(MMADHC):c.696+3_696+6del http://identifiers.org/clinvar/842 ^@ APC, 5-BP DEL, NT3221 http://identifiers.org/clinvar/2679 ^@ NM_182760.3(SUMF1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/2725 ^@ DSG4, 1-BP DEL, 763T http://identifiers.org/clinvar/2770 ^@ NM_024312.4(GNPTAB):c.1625_1626insC (p.Glu542Aspfs) http://identifiers.org/clinvar/10372 ^@ NM_000402.4(G6PD):c.934G>C (p.Asp312His) http://identifiers.org/clinvar/36642 ^@ NM_000257.3(MYH7):c.5135G>A (p.Arg1712Gln) http://identifiers.org/clinvar/36694 ^@ NM_000306.3(POU1F1):c.143-4A>T http://identifiers.org/clinvar/36747 ^@ NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) http://identifiers.org/clinvar/36798 ^@ NM_000545.6(HNF1A):c.130delC (p.Leu44Trpfs) http://identifiers.org/clinvar/36848 ^@ NM_000458.3(HNF1B):c.345-1G>T http://identifiers.org/clinvar/36899 ^@ NM_000551.3(VHL):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/36970 ^@ NM_021150.3(GRIP1):c.2113+1G>C http://identifiers.org/clinvar/37072 ^@ NM_001197104.1(KMT2A):c.8267delT (p.Leu2756Terfs) http://identifiers.org/clinvar/37137 ^@ NMNAT1, TRP169TER http://identifiers.org/clinvar/37288 ^@ ZNF423, 1-BP DEL, 1518C http://identifiers.org/clinvar/37359 ^@ NM_000155.3(GALT):c.442C>T (p.Arg148Trp) http://identifiers.org/clinvar/37424 ^@ NM_007294.3(BRCA1):c.1672A>C (p.Lys558Gln) http://identifiers.org/clinvar/37476 ^@ NM_007294.3(BRCA1):c.2584A>G (p.Lys862Glu) http://identifiers.org/clinvar/51155 ^@ NM_000059.3(BRCA2):c.1612_1613delAG (p.Ser538Trpfs) http://identifiers.org/clinvar/51206 ^@ NM_000059.3(BRCA2):c.1817C>T (p.Pro606Leu) http://identifiers.org/clinvar/51258 ^@ NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) http://identifiers.org/clinvar/51308 ^@ NM_000059.3(BRCA2):c.2586_2592delAAATCAA (p.Asn863Lysfs) http://identifiers.org/clinvar/51359 ^@ NM_000059.3(BRCA2):c.2845delT (p.Tyr949Metfs) http://identifiers.org/clinvar/51409 ^@ NM_000059.3(BRCA2):c.316+5G>A http://identifiers.org/clinvar/51461 ^@ NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) http://identifiers.org/clinvar/51512 ^@ NM_000059.3(BRCA2):c.3737delA (p.Asn1246Ilefs) http://identifiers.org/clinvar/51563 ^@ NM_000059.3(BRCA2):c.3917T>C (p.Val1306Ala) http://identifiers.org/clinvar/51614 ^@ NM_000059.3(BRCA2):c.4218_4221delAGAA (p.Lys1406Asnfs) http://identifiers.org/clinvar/51666 ^@ NM_000059.3(BRCA2):c.4544delA (p.Lys1515Argfs) http://identifiers.org/clinvar/51718 ^@ NM_000059.3(BRCA2):c.4808delA (p.Asn1603Thrfs) http://identifiers.org/clinvar/51769 ^@ NM_000059.3(BRCA2):c.5107G>C (p.Glu1703Gln) http://identifiers.org/clinvar/51820 ^@ NM_000059.3(BRCA2):c.5217_5220delTTTA (p.Tyr1739Terfs) http://identifiers.org/clinvar/51874 ^@ NM_000059.3(BRCA2):c.5505T>G (p.Asn1835Lys) http://identifiers.org/clinvar/51926 ^@ NM_000059.3(BRCA2):c.574dupA (p.Met192Asnfs) http://identifiers.org/clinvar/51977 ^@ NM_000059.3(BRCA2):c.5968_5969delGA (p.Asp1990Cysfs) http://identifiers.org/clinvar/52028 ^@ NM_000059.3(BRCA2):c.619A>G (p.Thr207Ala) http://identifiers.org/clinvar/52081 ^@ NM_000059.3(BRCA2):c.63delA (p.Ala22Glnfs) http://identifiers.org/clinvar/52133 ^@ NM_000059.3(BRCA2):c.6603_6604delTG (p.Asp2202Cysfs) http://identifiers.org/clinvar/52184 ^@ NM_000059.3(BRCA2):c.6796A>C (p.Asn2266His) http://identifiers.org/clinvar/52235 ^@ NM_000059.3(BRCA2):c.7003_7007delTTTCG (p.Phe2335Hisfs) http://identifiers.org/clinvar/52286 ^@ NM_000059.3(BRCA2):c.71delT (p.Leu24Terfs) http://identifiers.org/clinvar/52336 ^@ NM_000059.3(BRCA2):c.7463G>A (p.Arg2488Lys) http://identifiers.org/clinvar/53032 ^@ NM_000218.2(KCNQ1):c.287delC (p.Thr96Serfs) http://identifiers.org/clinvar/53082 ^@ NM_000218.2(KCNQ1):c.663_664dupGT (p.Phe222Cysfs) http://identifiers.org/clinvar/53133 ^@ NM_000218.2(KCNQ1):c.928G>A (p.Val310Ile) http://identifiers.org/clinvar/53185 ^@ NM_000492.3(CFTR):c.1086T>A (p.Tyr362Ter) http://identifiers.org/clinvar/53238 ^@ NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) http://identifiers.org/clinvar/53288 ^@ NM_000492.3(CFTR):c.1584+51_1584+61dupTACCCAAATTA http://identifiers.org/clinvar/53339 ^@ NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) http://identifiers.org/clinvar/53389 ^@ NM_000492.3(CFTR):c.1797T>A (p.Thr599=) http://identifiers.org/clinvar/53544 ^@ NM_000492.3(CFTR):c.2687_2690delCTCAinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer) http://identifiers.org/clinvar/53594 ^@ NM_000492.3(CFTR):c.2909-4A>G http://identifiers.org/clinvar/53646 ^@ NM_000492.3(CFTR):c.3068_3072delTAGTG (p.Ile1023Serfs) http://identifiers.org/clinvar/53697 ^@ NM_000492.3(CFTR):c.3262A>G (p.Asn1088Asp) http://identifiers.org/clinvar/53747 ^@ NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) http://identifiers.org/clinvar/53852 ^@ NM_000492.3(CFTR):c.3920A>G (p.Tyr1307Cys) http://identifiers.org/clinvar/53902 ^@ NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter) http://identifiers.org/clinvar/53953 ^@ NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) http://identifiers.org/clinvar/54003 ^@ NM_000492.3(CFTR):c.574G>A (p.Asp192Asn) http://identifiers.org/clinvar/54053 ^@ NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) http://identifiers.org/clinvar/54105 ^@ NM_007294.3(BRCA1):c.1039_1040delCT (p.Leu347Valfs) http://identifiers.org/clinvar/54155 ^@ NM_007294.3(BRCA1):c.1166delG (p.Ser389Metfs) http://identifiers.org/clinvar/54205 ^@ NM_007294.3(BRCA1):c.1335_1336delAA (p.Arg446Serfs) http://identifiers.org/clinvar/54255 ^@ NM_007294.3(BRCA1):c.1448T>C (p.Ile483Thr) http://identifiers.org/clinvar/54306 ^@ NM_007294.3(BRCA1):c.1608_1611delTAAC (p.Asn537Lysfs) http://identifiers.org/clinvar/54356 ^@ NM_007294.3(BRCA1):c.1808C>G (p.Ser603Ter) http://identifiers.org/clinvar/54407 ^@ NM_007294.3(BRCA1):c.1945G>C (p.Glu649Gln) http://identifiers.org/clinvar/54457 ^@ NM_007294.3(BRCA1):c.2086A>G (p.Thr696Ala) http://identifiers.org/clinvar/54507 ^@ NM_007294.3(BRCA1):c.2222C>T (p.Ser741Phe) http://identifiers.org/clinvar/54557 ^@ NM_007294.3(BRCA1):c.2403T>A (p.Cys801Ter) http://identifiers.org/clinvar/54757 ^@ NM_007294.3(BRCA1):c.3029_3030delCT (p.Pro1010Argfs) http://identifiers.org/clinvar/54807 ^@ NM_007294.3(BRCA1):c.3255dupA (p.Leu1086Ilefs) http://identifiers.org/clinvar/54857 ^@ NM_007294.3(BRCA1):c.3359_3363delTTAAT (p.Val1120Aspfs) http://identifiers.org/clinvar/54907 ^@ NM_007294.3(BRCA1):c.3515A>G (p.Glu1172Gly) http://identifiers.org/clinvar/54959 ^@ NM_007294.3(BRCA1):c.3664G>T (p.Glu1222Ter) http://identifiers.org/clinvar/55760 ^@ NM_007294.3(BRCA1):c.93C>G (p.Ile31Met) http://identifiers.org/clinvar/55832 ^@ NM_003079.4(SMARCE1):c.715C>T (p.Arg239Ter) http://identifiers.org/clinvar/55909 ^@ NG_008985.1:g.14667_24138del9472 http://identifiers.org/clinvar/55968 ^@ NM_000111.2(SLC26A3):c.1342_1343delTT (p.Leu448Lysfs) http://identifiers.org/clinvar/56021 ^@ NM_000112.3(SLC26A2):c.255delC (p.Asn87Ilefs) http://identifiers.org/clinvar/56072 ^@ NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) http://identifiers.org/clinvar/56125 ^@ NM_000274.3(OAT):c.381dupT (p.Thr128Tyrfs) http://identifiers.org/clinvar/56177 ^@ NM_000310.3(PPT1):c.125-15T>G http://identifiers.org/clinvar/56227 ^@ NM_000481.3(AMT):c.148delG (p.Val50Trpfs) http://identifiers.org/clinvar/56278 ^@ NM_001042432.1(CLN3):c.533+1G>A http://identifiers.org/clinvar/56330 ^@ NM_001081.3(CUBN):c.2614_2615delGA (p.Asp872Leufs) http://identifiers.org/clinvar/56380 ^@ NM_001126105.2(SLC7A7):c.894+1G>T http://identifiers.org/clinvar/56432 ^@ NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) http://identifiers.org/clinvar/56482 ^@ NM_004646.3(NPHS1):c.2606_2607dupCC (p.Asn870Profs) http://identifiers.org/clinvar/56533 ^@ NM_006493.2(CLN5):c.335G>C (p.Arg112Pro) http://identifiers.org/clinvar/56586 ^@ NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) http://identifiers.org/clinvar/56641 ^@ NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys) http://identifiers.org/clinvar/56691 ^@ NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter) http://identifiers.org/clinvar/56741 ^@ NM_030943.3(AMN):c.1006+16_1006+30del http://identifiers.org/clinvar/56810 ^@ NM_001142519.2(FAM111A):c.1706G>A (p.Arg569His) http://identifiers.org/clinvar/57001 ^@ GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 http://identifiers.org/clinvar/57053 ^@ GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 http://identifiers.org/clinvar/57109 ^@ GRCh38/hg38 4q35.2(chr4:189128061-189975519)x1 http://identifiers.org/clinvar/57161 ^@ GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 http://identifiers.org/clinvar/57212 ^@ GRCh38/hg38 5p15.31-15.2(chr5:9570494-10269457)x3 http://identifiers.org/clinvar/57265 ^@ GRCh38/hg38 17p13.3(chr17:198748-3102332)x1 http://identifiers.org/clinvar/101189 ^@ NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp) http://identifiers.org/clinvar/101239 ^@ NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser) http://identifiers.org/clinvar/101289 ^@ NM_000090.3(COL3A1):c.3500G>T (p.Gly1167Val) http://identifiers.org/clinvar/101339 ^@ NP_000081.1:p.Gly300_Ala317del http://identifiers.org/clinvar/102560 ^@ NM_000277.1(PAH):c.1199+5G>T http://identifiers.org/clinvar/102611 ^@ NM_000277.1(PAH):c.169-13T>G http://identifiers.org/clinvar/125534 ^@ NM_007294.3(BRCA1):c.2077G>T (p.Asp693Tyr) http://identifiers.org/clinvar/125615 ^@ NM_007294.3(BRCA1):c.213-16A>G http://identifiers.org/clinvar/125683 ^@ NM_007294.3(BRCA1):c.4167_4168insAG (p.Asp1390Argfs) http://identifiers.org/clinvar/125747 ^@ U14680.1:n.5106-68G>A http://identifiers.org/clinvar/125825 ^@ NM_007294.3(BRCA1):c.5332+2T>A http://identifiers.org/clinvar/125885 ^@ NM_007294.3(BRCA1):c.548-16G>A http://identifiers.org/clinvar/125950 ^@ K549del http://identifiers.org/clinvar/126012 ^@ NM_000059.3(BRCA2):c.3446T>C (p.Met1149Thr) http://identifiers.org/clinvar/126086 ^@ NM_000059.3(BRCA2):c.5987C>T (p.Ala1996Val) http://identifiers.org/clinvar/126148 ^@ U43746.1:n.7830-114_7830-112delAGT http://identifiers.org/clinvar/126207 ^@ NM_000059.3(BRCA2):c.9257-83G>A http://identifiers.org/clinvar/126266 ^@ NM_025114.3(CEP290):c.6357+20A>T http://identifiers.org/clinvar/126317 ^@ NM_020732.3(ARID1B):c.1737+28T>C http://identifiers.org/clinvar/126367 ^@ NM_001128849.1(SMARCA4):c.930C>A (p.Arg310=) http://identifiers.org/clinvar/126424 ^@ NM_001145293.1(NGLY1):c.1570C>T (p.Arg524Ter) http://identifiers.org/clinvar/126497 ^@ NM_001257344.1(BCS1L):c.901T>A (p.Tyr301Asn) http://identifiers.org/clinvar/161141 ^@ NM_152296.4(ATP1A3):c.2415C>G (p.Asp805Glu) http://identifiers.org/clinvar/161323 ^@ NM_000257.3(MYH7):c.5305C>A (p.Leu1769Met) http://identifiers.org/clinvar/161223 ^@ NM_004949.4(DSC2):c.2471C>T (p.Ser824Leu) http://identifiers.org/clinvar/161273 ^@ NM_000527.4(LDLR):c.185C>T (p.Thr62Met) http://identifiers.org/clinvar/161373 ^@ NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) http://identifiers.org/clinvar/161437 ^@ NM_000823.3(GHRHR):c.495C>A (p.His165Gln) http://identifiers.org/clinvar/161642 ^@ NM_005957.4(MTHFR):c.1739delT (p.Phe580Serfs) http://identifiers.org/clinvar/161592 ^@ NM_002249.5(KCNN3):c.1448+1G>T http://identifiers.org/clinvar/161742 ^@ NM_020981.3(B3GALT1):c.539delT (p.Phe181Leufs) http://identifiers.org/clinvar/161492 ^@ NM_001011708.2(OLA1):c.313T>G (p.Phe105Val) http://identifiers.org/clinvar/161542 ^@ NM_001163524.1(ITPRIPL1):c.1291G>A (p.Ala431Thr) http://identifiers.org/clinvar/161792 ^@ NM_052909.3(PLEKHG4B):c.1243C>T (p.Arg415Trp) http://identifiers.org/clinvar/161692 ^@ NM_015349.2(BICRAL):c.1778A>G (p.Lys593Arg) http://identifiers.org/clinvar/161842 ^@ NM_178842.4(CERS3):c.609+7G>T http://identifiers.org/clinvar/162014 ^@ NG_016853.2:g.50479_54781del4303insNC_000014.9:g.100833642_100833702 http://identifiers.org/clinvar/162076 ^@ NM_002019.4(FLT1):c.2708-39G>C http://identifiers.org/clinvar/162133 ^@ NM_001563.3(IMPG1):c.713T>G (p.Leu238Arg) http://identifiers.org/clinvar/162201 ^@ NM_003563.3(SPOP):c.887A>T (p.Asn296Ile) http://identifiers.org/clinvar/162403 ^@ NM_020461.3(TUBGCP6):c.2215C>T (p.Arg739Ter) http://identifiers.org/clinvar/162484 ^@ NM_004208.3(AIFM1):c.1319C>T (p.Ala440Val) http://identifiers.org/clinvar/162552 ^@ NM_004369.3(COL6A3):c.6871G>T (p.Gly2291Trp) http://identifiers.org/clinvar/162662 ^@ NM_004130.3(GYG1):c.970C>T (p.Arg324Ter) http://identifiers.org/clinvar/165540 ^@ NM_000364.3(TNNT2):c.619A>G (p.Lys207Glu) http://identifiers.org/clinvar/166502 ^@ NM_007123.5(USH2A):c.4559T>A (p.Ile1520Asn) http://identifiers.org/clinvar/162744 ^@ NM_001103.3(ACTN2):c.2506C>A (p.Arg836=) http://identifiers.org/clinvar/165128 ^@ NM_001035.2(RYR2):c.13291G>A (p.Glu4431Lys) http://identifiers.org/clinvar/162810 ^@ NM_001232.3(CASQ2):c.928G>A (p.Asp310Asn) http://identifiers.org/clinvar/177992 ^@ NM_206933.2(USH2A):c.4457A= (p.Lys1486=) http://identifiers.org/clinvar/165664 ^@ NM_001256850.1(TTN):c.95477T>G (p.Val31826Gly) http://identifiers.org/clinvar/165998 ^@ NM_133378.4(TTN):c.44394G>A (p.Val14798=) http://identifiers.org/clinvar/165851 ^@ NM_001256850.1(TTN):c.66685G>A (p.Gly22229Ser) http://identifiers.org/clinvar/178192 ^@ NM_001256850.1(TTN):c.65327T>C (p.Ile21776Thr) http://identifiers.org/clinvar/165948 ^@ NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) http://identifiers.org/clinvar/178242 ^@ NM_133378.4(TTN):c.17816G>A (p.Cys5939Tyr) http://identifiers.org/clinvar/166135 ^@ NM_133378.4(TTN):c.24693G>T (p.Val8231=) http://identifiers.org/clinvar/166254 ^@ NM_133379.4(TTN):c.15182G>A (p.Arg5061Lys) http://identifiers.org/clinvar/166304 ^@ NM_133378.4(TTN):c.8589A>G (p.Glu2863=) http://identifiers.org/clinvar/178760 ^@ NM_001369.2(DNAH5):c.36T>G (p.His12Gln) http://identifiers.org/clinvar/177840 ^@ NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) http://identifiers.org/clinvar/178292 ^@ NM_178335.2(CCDC50):c.1231C>T (p.Pro411Ser) http://identifiers.org/clinvar/178092 ^@ NM_016599.4(MYOZ2):c.688C>T (p.Arg230Trp) http://identifiers.org/clinvar/166588 ^@ NM_006005.3(WFS1):c.1392C>T (p.Thr464=) http://identifiers.org/clinvar/178592 ^@ NM_006005.3(WFS1):c.1470C>T (p.Thr490=) http://identifiers.org/clinvar/164799 ^@ NM_016616.4(NME8):c.177C>T (p.Asp59=) http://identifiers.org/clinvar/177790 ^@ NM_005228.4(EGFR):c.2231_2232insAAAATTCCCGTCGCTA (p.Glu746Phefs) http://identifiers.org/clinvar/165274 ^@ NM_198999.2(SLC26A5):c.78G>A (p.Pro26=) http://identifiers.org/clinvar/198512 ^@ NM_004385.4(VCAN):c.1707C>G (p.Ser569Arg) http://identifiers.org/clinvar/198563 ^@ NM_148898.3(FOXP2):c.1058G>A (p.Arg353Gln) http://identifiers.org/clinvar/198615 ^@ NM_138694.3(PKHD1):c.449-6A>T http://identifiers.org/clinvar/198666 ^@ NM_032119.3(ADGRV1):c.16331C>A (p.Thr5444Lys) http://identifiers.org/clinvar/198824 ^@ NM_005477.2(HCN4):c.3363G>C (p.Arg1121Ser) http://identifiers.org/clinvar/198880 ^@ NM_016239.3(MYO15A):c.4033A>T (p.Ile1345Leu) http://identifiers.org/clinvar/198933 ^@ NM_206933.2(USH2A):c.1510C>A (p.His504Asn) http://identifiers.org/clinvar/198984 ^@ NM_000033.3(ABCD1):c.1904T>C (p.Val635Ala) http://identifiers.org/clinvar/199035 ^@ NM_000709.3(BCKDHA):c.1277C>T (p.Ser426Phe) http://identifiers.org/clinvar/199088 ^@ NM_003839.3(TNFRSF11A):c.1416C>T (p.Cys472=) http://identifiers.org/clinvar/199140 ^@ NM_016513.4(ICK):c.831+5delT http://identifiers.org/clinvar/200927 ^@ NM_170707.3(LMNA):c.1157+6C>G http://identifiers.org/clinvar/201232 ^@ NM_001035.2(RYR2):c.2828T>C (p.Leu943Ser) http://identifiers.org/clinvar/201177 ^@ NM_001035.2(RYR2):c.7966-20delT http://identifiers.org/clinvar/201286 ^@ NM_001035.2(RYR2):c.8453C>T (p.Ala2818Val) http://identifiers.org/clinvar/201401 ^@ NM_001035.2(RYR2):c.12526G>A (p.Val4176Met) http://identifiers.org/clinvar/201342 ^@ NM_001035.2(RYR2):c.13057C>T (p.Pro4353Ser) http://identifiers.org/clinvar/201510 ^@ NM_198056.2(SCN5A):c.4245+2T>A http://identifiers.org/clinvar/201567 ^@ NM_198056.2(SCN5A):c.3517_3518delGT (p.Val1173Profs) http://identifiers.org/clinvar/201453 ^@ NM_198056.2(SCN5A):c.1398G>T (p.Leu466Phe) http://identifiers.org/clinvar/200699 ^@ NM_000238.3(KCNH2):c.3096_3099dupGCGG (p.Pro1034Alafs) http://identifiers.org/clinvar/200440 ^@ NM_000238.3(KCNH2):c.2390C>A (p.Ala797Asp) http://identifiers.org/clinvar/200594 ^@ NM_000238.3(KCNH2):c.44T>A (p.Leu15Gln) http://identifiers.org/clinvar/200866 ^@ NM_000218.2(KCNQ1):c.8C>G (p.Ala3Gly) http://identifiers.org/clinvar/200813 ^@ NM_000218.2(KCNQ1):c.1726G>A (p.Val576Ile) http://identifiers.org/clinvar/200996 ^@ NM_130799.2(MEN1):c.307delC (p.Leu103Cysfs) http://identifiers.org/clinvar/201110 ^@ NM_002474.2(MYH11):c.4240_4242delGCTinsACG (p.Ala1414Thr) http://identifiers.org/clinvar/201057 ^@ NM_002474.2(MYH11):c.2741C>T (p.Ala914Val) http://identifiers.org/clinvar/201627 ^@ NM_001103.3(ACTN2):c.278G>A (p.Arg93Gln) http://identifiers.org/clinvar/202129 ^@ NM_024334.2(TMEM43):c.344T>C (p.Leu115Pro) http://identifiers.org/clinvar/201955 ^@ NM_014476.5(PDLIM3):c.1082A>G (p.Tyr361Cys) http://identifiers.org/clinvar/202070 ^@ NM_001134363.2(RBM20):c.2736C>A (p.Asp912Glu) http://identifiers.org/clinvar/201682 ^@ NM_004281.3(BAG3):c.889A>G (p.Thr297Ala) http://identifiers.org/clinvar/201902 ^@ NM_006393.2(NEBL):c.1608G>T (p.Met536Ile) http://identifiers.org/clinvar/201847 ^@ NM_007078.2(LDB3):c.1129G>A (p.Ala377Thr) http://identifiers.org/clinvar/202012 ^@ NM_004572.3(PKP2):c.533dupT (p.His179Alafs) http://identifiers.org/clinvar/201793 ^@ NM_020433.4(JPH2):c.1729G>A (p.Glu577Lys) http://identifiers.org/clinvar/201737 ^@ NM_004006.2(DMD):c.6101A>T (p.Gln2034Leu) http://identifiers.org/clinvar/203118 ^@ NM_001256850.1(TTN):c.102850A>G (p.Thr34284Ala) http://identifiers.org/clinvar/232546 ^@ NM_000038.5(APC):c.5524T>A (p.Ser1842Thr) http://identifiers.org/clinvar/232146 ^@ NM_000038.5(APC):c.5918G>A (p.Ser1973Asn) http://identifiers.org/clinvar/233247 ^@ NM_000038.5(APC):c.6128T>A (p.Ile2043Lys) http://identifiers.org/clinvar/234139 ^@ NM_000535.6(PMS2):c.2388C>A (p.Val796=) http://identifiers.org/clinvar/233447 ^@ NM_002485.4(NBN):c.1080T>C (p.Thr360=) http://identifiers.org/clinvar/232196 ^@ NM_002485.4(NBN):c.942G>A (p.Val314=) http://identifiers.org/clinvar/231696 ^@ NM_002485.4(NBN):c.55_56delTT (p.Leu19Aspfs) http://identifiers.org/clinvar/234089 ^@ NM_000051.3(ATM):c.15dupT (p.Asn6Terfs) http://identifiers.org/clinvar/233047 ^@ NM_000051.3(ATM):c.3208G>T (p.Val1070Leu) http://identifiers.org/clinvar/232496 ^@ NM_000051.3(ATM):c.5943C>T (p.Ser1981=) http://identifiers.org/clinvar/231646 ^@ NM_000059.3(BRCA2):c.1689delG (p.Trp563Cysfs) http://identifiers.org/clinvar/232597 ^@ NM_000059.3(BRCA2):c.2501delT (p.Leu834Cysfs) http://identifiers.org/clinvar/232647 ^@ NM_000059.3(BRCA2):c.2823G>A (p.Val941=) http://identifiers.org/clinvar/232446 ^@ NM_000059.3(BRCA2):c.7209_7212delCAAAinsGG (p.Lys2404Glyfs) http://identifiers.org/clinvar/232747 ^@ NM_000059.3(BRCA2):c.8565G>C (p.Val2855=) http://identifiers.org/clinvar/232697 ^@ NM_024675.3(PALB2):c.2996+3A>G http://identifiers.org/clinvar/233097 ^@ NM_024675.3(PALB2):c.2156delC (p.Pro719Leufs) http://identifiers.org/clinvar/232947 ^@ NM_001042492.2(NF1):c.1936G>T (p.Asp646Tyr) http://identifiers.org/clinvar/232246 ^@ NM_001042492.2(NF1):c.3438C>T (p.Val1146=) http://identifiers.org/clinvar/233397 ^@ NM_001042492.2(NF1):c.5322G>T (p.Gly1774=) http://identifiers.org/clinvar/232797 ^@ NM_007294.3(BRCA1):c.5568C>A (p.Pro1856=) http://identifiers.org/clinvar/232897 ^@ NM_007294.3(BRCA1):c.5354A>C (p.Gln1785Pro) http://identifiers.org/clinvar/232847 ^@ NM_032043.2(BRIP1):c.2524C>G (p.Leu842Val) http://identifiers.org/clinvar/232296 ^@ NM_032043.2(BRIP1):c.211C>T (p.Pro71Ser) http://identifiers.org/clinvar/233197 ^@ NM_000546.5(TP53):c.568C>A (p.Pro190Thr) http://identifiers.org/clinvar/234239 ^@ NM_000546.5(TP53):c.264C>T (p.Ala88=) http://identifiers.org/clinvar/233347 ^@ NM_007194.3(CHEK2):c.249A>G (p.Gln83=) http://identifiers.org/clinvar/234927 ^@ NM_003052.4(SLC34A1):c.458G>T (p.Gly153Val) http://identifiers.org/clinvar/235064 ^@ NM_001001430.2(TNNT2):c.328T>C (p.Phe110Leu) http://identifiers.org/clinvar/235014 ^@ NC_012920.1:m.4316A>G http://identifiers.org/clinvar/235189 ^@ NM_018946.3(NANS):c.979_981dupATC (p.Ile327_Phe328insIle) http://identifiers.org/clinvar/235253 ^@ NM_014324.5(AMACR):c.781A>T (p.Met261Leu) http://identifiers.org/clinvar/235306 ^@ NM_001082971.1(DDC):c.183G>T (p.Glu61Asp) http://identifiers.org/clinvar/235357 ^@ NM_000199.3(SGSH):c.675C>G (p.Phe225Leu) http://identifiers.org/clinvar/235412 ^@ NM_014324.5(AMACR):c.782T>C (p.Met261Thr) http://identifiers.org/clinvar/235467 ^@ NM_001172696.1(TSFM):c.859C>A (p.Leu287Ile) http://identifiers.org/clinvar/235521 ^@ NC_012920.1:m.7861T>C http://identifiers.org/clinvar/235572 ^@ NM_022455.4(NSD1):c.7753G>A (p.Gly2585Arg) http://identifiers.org/clinvar/235622 ^@ NM_006302.2(MOGS):c.881C>T (p.Pro294Leu) http://identifiers.org/clinvar/235675 ^@ NM_001145320.1(ADAMTSL2):c.88A>G (p.Thr30Ala) http://identifiers.org/clinvar/235736 ^@ NM_025114.3(CEP290):c.251-11T>A http://identifiers.org/clinvar/242389 ^@ NM_000350.2(ABCA4):c.5153T>G (p.Val1718Gly) http://identifiers.org/clinvar/239425 ^@ NM_003000.2(SDHB):c.201-2A>C http://identifiers.org/clinvar/239525 ^@ NM_003240.4(LEFTY2):c.330C>T (p.Asn110=) http://identifiers.org/clinvar/238232 ^@ NM_001035.2(RYR2):c.38T>G (p.Phe13Cys) http://identifiers.org/clinvar/238332 ^@ NM_001128425.1(MUTYH):c.1086C>T (p.Ala362=) http://identifiers.org/clinvar/237632 ^@ NM_000312.3(PROC):c.1237A>G (p.Thr413Ala) http://identifiers.org/clinvar/237832 ^@ NM_000465.3(BARD1):c.2284T>C (p.Trp762Arg) http://identifiers.org/clinvar/239825 ^@ NM_004304.4(ALK):c.3599C>T (p.Ala1200Val) http://identifiers.org/clinvar/237381 ^@ NM_000251.2(MSH2):c.211+9C>A http://identifiers.org/clinvar/240976 ^@ NM_015120.4(ALMS1):c.11266T>A (p.Ser3756Thr) http://identifiers.org/clinvar/237331 ^@ NM_000249.3(MLH1):c.2138A>C (p.Lys713Thr) http://identifiers.org/clinvar/240676 ^@ NM_006514.3(SCN10A):c.45C>T (p.Arg15=) http://identifiers.org/clinvar/240276 ^@ NM_006030.3(CACNA2D2):c.2801A>G (p.Gln934Arg) http://identifiers.org/clinvar/238582 ^@ NM_001148.4(ANK2):c.4974T>G (p.Val1658=) http://identifiers.org/clinvar/238282 ^@ NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) http://identifiers.org/clinvar/240326 ^@ NM_006206.4(PDGFRA):c.2205G>A (p.Lys735=) http://identifiers.org/clinvar/242215 ^@ NM_198253.2(TERT):c.1331A>G (p.Asp444Gly) http://identifiers.org/clinvar/240226 ^@ NM_005732.3(RAD50):c.2508G>A (p.Gln836=) http://identifiers.org/clinvar/240075 ^@ NM_004821.2(HAND1):c.289G>T (p.Gly97Cys) http://identifiers.org/clinvar/239675 ^@ NM_004168.3(SDHA):c.596C>T (p.Ser199Leu) http://identifiers.org/clinvar/238632 ^@ NM_001206927.1(DNAH8):c.11580C>T (p.Asp3860=) http://identifiers.org/clinvar/255796 ^@ NM_000297.3(PKD2):c.596-16C>T http://identifiers.org/clinvar/257985 ^@ NM_001369.2(DNAH5):c.11762-45T>C http://identifiers.org/clinvar/258035 ^@ NM_001369.2(DNAH5):c.4796+41G>A http://identifiers.org/clinvar/257435 ^@ NM_001099287.1(NIPAL4):c.1358C>T (p.Ser453Leu) http://identifiers.org/clinvar/259374 ^@ NM_004385.4(VCAN):c.9033C>A (p.Asn3011Lys) http://identifiers.org/clinvar/255746 ^@ NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) http://identifiers.org/clinvar/258335 ^@ NM_001851.4(COL9A1):c.1015T>C (p.Ser339Pro) http://identifiers.org/clinvar/258135 ^@ NM_001458.4(FLNC):c.2389+12C>T http://identifiers.org/clinvar/255496 ^@ NM_000193.3(SHH):c.49C>T (p.Leu17=) http://identifiers.org/clinvar/257885 ^@ NM_001277115.1(DNAH11):c.3765C>T (p.Asp1255=) http://identifiers.org/clinvar/257935 ^@ NM_001277115.1(DNAH11):c.8299G>A (p.Ala2767Thr) http://identifiers.org/clinvar/258535 ^@ NM_002047.3(GARS):c.1904-28T>G http://identifiers.org/clinvar/255446 ^@ NM_000168.5(GLI3):c.547A>G (p.Thr183Ala) http://identifiers.org/clinvar/260175 ^@ NM_012082.3(ZFPM2):c.2385C>G (p.Val795=) http://identifiers.org/clinvar/260275 ^@ NM_012472.5(LRRC6):c.283C>T (p.Leu95=) http://identifiers.org/clinvar/255146 ^@ NM_000118.3(ENG):c.732C>T (p.Pro244=) http://identifiers.org/clinvar/254746 ^@ NM_000050.4(ASS1):c.421-28C>T http://identifiers.org/clinvar/255946 ^@ NM_000368.4(TSC1):c.1248C>T (p.Val416=) http://identifiers.org/clinvar/255046 ^@ NM_000093.4(COL5A1):c.1053G>A (p.Pro351=) http://identifiers.org/clinvar/255096 ^@ NM_000093.4(COL5A1):c.5136+40A>G http://identifiers.org/clinvar/259975 ^@ NM_006412.3(AGPAT2):c.*10C>T http://identifiers.org/clinvar/260125 ^@ NM_007126.3(VCP):c.1704A>G (p.Gln568=) http://identifiers.org/clinvar/260725 ^@ NM_016341.3(PLCE1):c.5458+7G>A http://identifiers.org/clinvar/260475 ^@ NM_014956.4(CEP164):c.1482T>C (p.Pro494=) http://identifiers.org/clinvar/260025 ^@ NM_006757.3(TNNT3):c.366+10C>A http://identifiers.org/clinvar/259624 ^@ NM_005055.4(RAPSN):c.1098C>T (p.Cys366=) http://identifiers.org/clinvar/258635 ^@ NM_002335.3(LRP5):c.1932G>A (p.Glu644=) http://identifiers.org/clinvar/258235 ^@ NM_001844.4(COL2A1):c.4068C>T (p.Gly1356=) http://identifiers.org/clinvar/258585 ^@ NM_002206.2(ITGA7):c.2556G>A (p.Ser852=) http://identifiers.org/clinvar/260375 ^@ NM_014254.2(TMEM5):c.275C>T (p.Thr92Met) http://identifiers.org/clinvar/258835 ^@ NM_002863.4(PYGL):c.1828-21G>A http://identifiers.org/clinvar/257535 ^@ NM_001130010.2(C15orf41):c.531C>T (p.Asn177=) http://identifiers.org/clinvar/257635 ^@ NM_001211.5(BUB1B):c.2284+17T>G http://identifiers.org/clinvar/260325 ^@ NM_014080.4(DUOX2):c.3966C>T (p.Ser1322=) http://identifiers.org/clinvar/255296 ^@ NM_000138.4(FBN1):c.4059G>T (p.Gly1353=) http://identifiers.org/clinvar/332920 ^@ NM_133378.4(TTN):c.15386A>G (p.Glu5129Gly) http://identifiers.org/clinvar/332970 ^@ NM_133378.4(TTN):c.851C>T (p.Ser284Leu) http://identifiers.org/clinvar/336321 ^@ NM_001430.4(EPAS1):c.*1790G>A http://identifiers.org/clinvar/336728 ^@ NM_032180.2(FAM161A):c.*248delT http://identifiers.org/clinvar/336928 ^@ NM_001692.3(ATP6V1B1):c.1469C>T (p.Pro490Leu) http://identifiers.org/clinvar/336271 ^@ NM_001430.4(EPAS1):c.2045+8dupG http://identifiers.org/clinvar/337128 ^@ NM_013247.4(HTRA2):c.241G>A (p.Ala81Thr) http://identifiers.org/clinvar/337228 ^@ NM_000821.6(GGCX):c.*1698A>G http://identifiers.org/clinvar/337328 ^@ NM_003896.3(ST3GAL5):c.*355G>A http://identifiers.org/clinvar/337428 ^@ NM_144563.2(RPIA):c.55C>A (p.Pro19Thr) http://identifiers.org/clinvar/336778 ^@ NM_015910.5(WDPCP):c.-322delT http://identifiers.org/clinvar/337628 ^@ NM_001079.3(ZAP70):c.447G>A (p.Val149=) http://identifiers.org/clinvar/336828 ^@ NM_002056.3(GFPT1):c.*2685A>G http://identifiers.org/clinvar/336878 ^@ NM_002056.3(GFPT1):c.1149+12T>A http://identifiers.org/clinvar/342308 ^@ NM_016247.3(IMPG2):c.*881T>C http://identifiers.org/clinvar/342358 ^@ NM_016247.3(IMPG2):c.335-16_335-15delCC http://identifiers.org/clinvar/342458 ^@ NM_000551.3(VHL):c.*2034T>A http://identifiers.org/clinvar/337278 ^@ NM_000821.6(GGCX):c.159C>A (p.Thr53=) http://identifiers.org/clinvar/342708 ^@ NM_020754.3(ARHGAP31):c.*1987C>G http://identifiers.org/clinvar/337378 ^@ NM_022912.2(REEP1):c.*1015G>A http://identifiers.org/clinvar/337478 ^@ NM_017849.3(TMEM127):c.*1772G>A http://identifiers.org/clinvar/337528 ^@ NM_014014.4(SNRNP200):c.5983G>A (p.Ala1995Thr) http://identifiers.org/clinvar/337678 ^@ NM_001298.2(CNGA3):c.*574C>T http://identifiers.org/clinvar/342408 ^@ NM_000551.3(VHL):c.*303A>T http://identifiers.org/clinvar/342608 ^@ NM_000796.5(DRD3):c.-252C>T http://identifiers.org/clinvar/344147 ^@ NM_000340.1(SLC2A2):c.*607delG http://identifiers.org/clinvar/350687 ^@ NM_032446.2(MEGF10):c.*1246C>T http://identifiers.org/clinvar/354613 ^@ NM_000439.4(PCSK1):c.*1854T>A http://identifiers.org/clinvar/354763 ^@ NM_020381.3(PDSS2):c.*311G>A http://identifiers.org/clinvar/350887 ^@ NM_000358.2(TGFBI):c.1377C>T (p.Gly459=) http://identifiers.org/clinvar/350787 ^@ NM_001999.3(FBN2):c.2060G>T (p.Gly687Val) http://identifiers.org/clinvar/350837 ^@ NM_014402.4(UQCRQ):c.-31delG http://identifiers.org/clinvar/354863 ^@ NM_007214.4(SEC63):c.*1790_*1793delGTTT http://identifiers.org/clinvar/354963 ^@ NM_014028.3(OSTM1):c.*1367G>A http://identifiers.org/clinvar/350937 ^@ NM_017415.2(KLHL3):c.*3203_*3205delTAA http://identifiers.org/clinvar/355013 ^@ NM_004752.3(GCM2):c.607G>A (p.Gly203Ser) http://identifiers.org/clinvar/350987 ^@ NM_017415.2(KLHL3):c.1321+10C>T http://identifiers.org/clinvar/355063 ^@ NM_003880.3(WISP3):c.237C>T (p.Ala79=) http://identifiers.org/clinvar/355264 ^@ NM_000426.3(LAMA2):c.3429C>A (p.Ile1143=) http://identifiers.org/clinvar/351187 ^@ NM_199189.2(MATR3):c.*2241A>G http://identifiers.org/clinvar/358813 ^@ NM_006193.2(PAX4):c.-199delT http://identifiers.org/clinvar/359013 ^@ NM_020632.2(ATP6V0A4):c.1888G>A (p.Ala630Thr) http://identifiers.org/clinvar/351976 ^@ NM_000440.2(PDE6A):c.*241delA http://identifiers.org/clinvar/351876 ^@ NM_024577.3(SH3TC2):c.*862dupG http://identifiers.org/clinvar/352124 ^@ NM_005211.3(CSF1R):c.2805C>T (p.Ser935=) http://identifiers.org/clinvar/352474 ^@ NM_005546.3(ITK):c.1455C>T (p.Ala485=) http://identifiers.org/clinvar/352174 ^@ NM_005211.3(CSF1R):c.225C>T (p.Thr75=) http://identifiers.org/clinvar/352224 ^@ NM_001135243.1(TCOF1):c.2990C>G (p.Ser997Cys) http://identifiers.org/clinvar/352274 ^@ NM_000405.4(GM2A):c.*860C>T http://identifiers.org/clinvar/352324 ^@ NM_000171.3(GLRA1):c.-14C>T http://identifiers.org/clinvar/352374 ^@ NM_000337.5(SGCD):c.*3687A>G http://identifiers.org/clinvar/352674 ^@ NM_001034850.2(RETREG1):c.*1160T>C http://identifiers.org/clinvar/352524 ^@ NM_001099287.1(NIPAL4):c.*23G>A http://identifiers.org/clinvar/352624 ^@ NM_000806.5(GABRA1):c.*2279G>A http://identifiers.org/clinvar/360552 ^@ NM_000181.3(GUSB):c.988G>T (p.Ala330Ser) http://identifiers.org/clinvar/352924 ^@ NM_022455.4(NSD1):c.*3495A>G http://identifiers.org/clinvar/360852 ^@ NM_005751.4(AKAP9):c.10924G>T (p.Ala3642Ser) http://identifiers.org/clinvar/353274 ^@ NM_002185.3(IL7R):c.*508A>G http://identifiers.org/clinvar/353174 ^@ NM_003900.4(SQSTM1):c.*279C>G http://identifiers.org/clinvar/353224 ^@ NM_014324.5(AMACR):c.*1961G>A http://identifiers.org/clinvar/361202 ^@ NM_178857.5(RP1L1):c.*27delG http://identifiers.org/clinvar/353374 ^@ NM_133433.3(NIPBL):c.1721A>G (p.Asn574Ser) http://identifiers.org/clinvar/353524 ^@ NM_002310.5(LIFR):c.*6140C>G http://identifiers.org/clinvar/363801 ^@ NM_000318.2(PEX2):c.*1047T>A http://identifiers.org/clinvar/363751 ^@ NM_018972.2(GDAP1):c.*1779G>T http://identifiers.org/clinvar/299804 ^@ NM_032844.4(MASTL):c.*132G>A http://identifiers.org/clinvar/363901 ^@ NM_002485.4(NBN):c.*983G>A http://identifiers.org/clinvar/363951 ^@ NM_018444.3(PDP1):c.*592A>G http://identifiers.org/clinvar/364001 ^@ NM_177965.3(C8orf37):c.156-11C>T http://identifiers.org/clinvar/361102 ^@ NM_017890.4(VPS13B):c.*270C>T http://identifiers.org/clinvar/307137 ^@ NM_021625.4(TRPV4):c.760G>A (p.Val254Met) http://identifiers.org/clinvar/307337 ^@ NM_005996.3(TBX3):c.*715C>G http://identifiers.org/clinvar/300743 ^@ NM_002658.4(PLAU):c.162A>G (p.Pro54=) http://identifiers.org/clinvar/307687 ^@ NM_004064.4(CDKN1B):c.*948T>C http://identifiers.org/clinvar/307737 ^@ NM_000834.3(GRIN2B):c.4215C>T (p.Phe1405=) http://identifiers.org/clinvar/364990 ^@ NM_002316.3(LMX1B):c.*4128G>A http://identifiers.org/clinvar/364790 ^@ NM_018249.5(CDK5RAP2):c.-154C>T http://identifiers.org/clinvar/364840 ^@ NM_000177.4(GSN):c.*126T>C http://identifiers.org/clinvar/301193 ^@ NM_000429.2(MAT1A):c.-23C>T http://identifiers.org/clinvar/365040 ^@ NM_138361.5(LRSAM1):c.*588T>A http://identifiers.org/clinvar/365090 ^@ NM_000118.3(ENG):c.909C>T (p.Ala303=) http://identifiers.org/clinvar/365440 ^@ NM_000368.4(TSC1):c.*2679T>C http://identifiers.org/clinvar/365540 ^@ NM_139025.4(ADAMTS13):c.824+12C>T http://identifiers.org/clinvar/301443 ^@ NM_000314.6(PTEN):c.*1034T>G http://identifiers.org/clinvar/301543 ^@ NM_000043.5(FAS):c.*978C>T http://identifiers.org/clinvar/365240 ^@ NM_054012.3(ASS1):c.-261G>T http://identifiers.org/clinvar/365690 ^@ NM_000787.3(DBH):c.*415C>T http://identifiers.org/clinvar/301643 ^@ NM_006204.3(PDE6C):c.2481A>C (p.Glu827Asp) http://identifiers.org/clinvar/365340 ^@ NM_015046.5(SETX):c.7787C>T (p.Ala2596Val) http://identifiers.org/clinvar/365740 ^@ NM_000093.4(COL5A1):c.*68C>T http://identifiers.org/clinvar/365390 ^@ NM_000368.4(TSC1):c.*4515G>A http://identifiers.org/clinvar/301743 ^@ NM_002860.3(ALDH18A1):c.*829C>T http://identifiers.org/clinvar/365840 ^@ NM_052813.4(CARD9):c.1090C>A (p.Arg364=) http://identifiers.org/clinvar/365991 ^@ NM_024757.4(EHMT1):c.153C>T (p.Asp51=) http://identifiers.org/clinvar/301993 ^@ NM_001080463.1(DYNC2H1):c.-94G>T http://identifiers.org/clinvar/302043 ^@ NM_001080463.1(DYNC2H1):c.5313A>G (p.Val1771=) http://identifiers.org/clinvar/365790 ^@ NM_000093.4(COL5A1):c.*2294A>T http://identifiers.org/clinvar/366041 ^@ NM_024757.4(EHMT1):c.*663G>A http://identifiers.org/clinvar/302493 ^@ NM_003002.3(SDHD):c.*648A>G http://identifiers.org/clinvar/366491 ^@ NM_001256054.2(C9orf72):c.*914A>G http://identifiers.org/clinvar/310791 ^@ NM_005888.3(SLC25A3):c.-92G>A http://identifiers.org/clinvar/310891 ^@ NM_004115.3(FGF14):c.*101_*104delTAAG http://identifiers.org/clinvar/310941 ^@ NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) http://identifiers.org/clinvar/312780 ^@ NM_020366.3(RPGRIP1):c.218+13C>G http://identifiers.org/clinvar/322115 ^@ NM_016239.3(MYO15A):c.901C>G (p.Pro301Ala) http://identifiers.org/clinvar/312830 ^@ NM_001126106.2(SLC7A7):c.-66C>A http://identifiers.org/clinvar/313030 ^@ NM_025152.2(NUBPL):c.677G>A (p.Arg226His) http://identifiers.org/clinvar/314819 ^@ NM_018319.3(TDP1):c.-76T>C http://identifiers.org/clinvar/341258 ^@ NM_000343.3(SLC5A1):c.1725G>A (p.Ala575=) http://identifiers.org/clinvar/341408 ^@ NM_000362.4(TIMP3):c.*3413C>T http://identifiers.org/clinvar/313280 ^@ NM_018139.2(DNAAF2):c.1215T>G (p.Ala405=) http://identifiers.org/clinvar/341458 ^@ NM_002473.5(MYH9):c.*1329C>T http://identifiers.org/clinvar/341508 ^@ NM_002473.5(MYH9):c.3915G>A (p.Ala1305=) http://identifiers.org/clinvar/315269 ^@ NM_139057.3(ADAMTS17):c.2138-12C>T http://identifiers.org/clinvar/315319 ^@ NM_139057.3(ADAMTS17):c.388C>G (p.Arg130Gly) http://identifiers.org/clinvar/313480 ^@ NM_182914.2(SYNE2):c.-107G>A http://identifiers.org/clinvar/323054 ^@ NM_001254.3(CDC6):c.464C>T (p.Thr155Ile) http://identifiers.org/clinvar/341808 ^@ NM_001429.3(EP300):c.4798C>G (p.Leu1600Val) http://identifiers.org/clinvar/313580 ^@ NM_182914.2(SYNE2):c.12840+12A>G http://identifiers.org/clinvar/315469 ^@ NM_000275.2(OCA2):c.1352C>A (p.Pro451His) http://identifiers.org/clinvar/323154 ^@ NM_002230.2(JUP):c.*567C>G http://identifiers.org/clinvar/341908 ^@ NM_000262.2(NAGA):c.760-7C>A http://identifiers.org/clinvar/323204 ^@ NM_021939.3(FKBP10):c.*693G>T http://identifiers.org/clinvar/313680 ^@ NM_182914.2(SYNE2):c.*359A>C http://identifiers.org/clinvar/342008 ^@ NM_018006.4(TRMU):c.853G>A (p.Val285Ile) http://identifiers.org/clinvar/323304 ^@ NM_000263.3(NAGLU):c.1860C>T (p.Ser620=) http://identifiers.org/clinvar/315619 ^@ NM_133647.1(SLC12A6):c.1008C>T (p.Gly336=) http://identifiers.org/clinvar/342058 ^@ NM_024105.3(ALG12):c.327T>G (p.Phe109Leu) http://identifiers.org/clinvar/315669 ^@ NM_005159.4(ACTC1):c.*1004A>G http://identifiers.org/clinvar/323454 ^@ NM_138387.3(G6PC3):c.-194C>T http://identifiers.org/clinvar/315769 ^@ NM_152594.2(SPRED1):c.*3584G>A http://identifiers.org/clinvar/367759 ^@ NM_002294.2(LAMP2):c.*2195T>C http://identifiers.org/clinvar/323604 ^@ NM_002055.4(GFAP):c.*338C>T http://identifiers.org/clinvar/367859 ^@ NM_001167.3(XIAP):c.*6220C>T http://identifiers.org/clinvar/323704 ^@ NM_001123066.3(MAPT):c.*2806A>C http://identifiers.org/clinvar/367909 ^@ NM_194277.2(FRMD7):c.904A>C (p.Ser302Arg) http://identifiers.org/clinvar/316019 ^@ NM_000119.2(EPB42):c.1115G>A (p.Gly372Asp) http://identifiers.org/clinvar/316069 ^@ NM_025137.3(SPG11):c.*320C>T http://identifiers.org/clinvar/316119 ^@ NM_025137.3(SPG11):c.-4C>A http://identifiers.org/clinvar/316219 ^@ NM_012388.3(BLOC1S6):c.-134G>A http://identifiers.org/clinvar/324104 ^@ NM_000088.3(COL1A1):c.3099+7T>G http://identifiers.org/clinvar/314719 ^@ NM_000369.2(TSHR):c.*1417T>C http://identifiers.org/clinvar/314769 ^@ NM_000153.3(GALC):c.-68C>T http://identifiers.org/clinvar/317258 ^@ NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) http://identifiers.org/clinvar/315519 ^@ NM_002420.5(TRPM1):c.1813G>A (p.Val605Met) http://identifiers.org/clinvar/317509 ^@ NM_000875.4(IGF1R):c.*1600A>G http://identifiers.org/clinvar/317559 ^@ NM_000875.4(IGF1R):c.*3471dupC http://identifiers.org/clinvar/315219 ^@ NM_139057.3(ADAMTS17):c.*639G>A http://identifiers.org/clinvar/317709 ^@ NM_000246.3(CIITA):c.2345T>C (p.Val782Ala) http://identifiers.org/clinvar/325652 ^@ NM_018081.2(WRAP53):c.395C>A (p.Thr132Asn) http://identifiers.org/clinvar/317809 ^@ NM_005236.2(ERCC4):c.1112A>G (p.Lys371Arg) http://identifiers.org/clinvar/318059 ^@ NM_001143979.1(NDE1):c.309C>G (p.Thr103=) http://identifiers.org/clinvar/325803 ^@ NM_000152.4(GAA):c.*223C>T http://identifiers.org/clinvar/316369 ^@ NM_000138.4(FBN1):c.6095C>G (p.Thr2032Ser) http://identifiers.org/clinvar/316419 ^@ NM_014985.3(CEP152):c.2901A>G (p.Glu967=) http://identifiers.org/clinvar/371974 ^@ NM_058195.3(CDKN2A):c.62G>A (p.Arg21Lys) http://identifiers.org/clinvar/371924 ^@ NM_006231.3(POLE):c.1226+13G>A http://identifiers.org/clinvar/372024 ^@ NM_006231.3(POLE):c.1055A>C (p.Gln352Pro) http://identifiers.org/clinvar/371874 ^@ NM_000059.3(BRCA2):c.7008-25C>T http://identifiers.org/clinvar/371824 ^@ NM_007294.3(BRCA1):c.4185+21_4185+22dupTG http://identifiers.org/clinvar/372074 ^@ NM_000546.5(TP53):c.376-18dupT http://identifiers.org/clinvar/372124 ^@ NM_004415.3(DSP):c.1757A>C (p.His586Pro) http://identifiers.org/clinvar/372198 ^@ NM_002936.4(RNASEH1):c.469C>T (p.Arg157Ter) http://identifiers.org/clinvar/372256 ^@ NM_152416.3(NDUFAF6):c.226T>C (p.Ser76Pro) http://identifiers.org/clinvar/372877 ^@ NM_001349.3(DARS):c.1129G>C (p.Gly377Arg) http://identifiers.org/clinvar/372518 ^@ NM_000348.3(SRD5A2):c.100G>A (p.Gly34Arg) http://identifiers.org/clinvar/372411 ^@ NM_000251.2(MSH2):c.1158_1167delTCTTAACCGA (p.Asn388Profs) http://identifiers.org/clinvar/372360 ^@ NM_003907.2(EIF2B5):c.895C>T (p.Arg299Cys) http://identifiers.org/clinvar/372620 ^@ NM_001369.2(DNAH5):c.10415A>G (p.Lys3472Arg) http://identifiers.org/clinvar/372310 ^@ NM_015570.3(AUTS2):c.1483C>T (p.Arg495Ter) http://identifiers.org/clinvar/373030 ^@ NM_006077.3(MICU1):c.1078-1G>A http://identifiers.org/clinvar/373080 ^@ NM_000612.5(IGF2):c.99C>A (p.Cys33Ter) http://identifiers.org/clinvar/372980 ^@ NM_000612.5(IGF2):c.97T>C (p.Cys33Arg) http://identifiers.org/clinvar/372672 ^@ NM_007373.3(SHOC2):c.335T>C (p.Ile112Thr) http://identifiers.org/clinvar/372570 ^@ NM_007078.2(LDB3):c.80T>C (p.Leu27Pro) http://identifiers.org/clinvar/372930 ^@ NM_005050.3(ABCD4):c.141G>C (p.Leu47Phe) http://identifiers.org/clinvar/372724 ^@ NM_020433.4(JPH2):c.1213G>T (p.Ala405Ser) http://identifiers.org/clinvar/372826 ^@ NM_001848.2(COL6A1):c.1132G>C (p.Ala378Pro) http://identifiers.org/clinvar/372465 ^@ NM_000444.5(PHEX):c.2237G>T (p.Cys746Phe) http://identifiers.org/clinvar/373869 ^@ NG_005905.2:g.(168864_170280)_(172307_?)del http://identifiers.org/clinvar/374172 ^@ NM_000368.4(TSC1):c.658delG (p.Val220Serfs) http://identifiers.org/clinvar/373922 ^@ NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) http://identifiers.org/clinvar/374072 ^@ NM_001040108.1(MLH3):c.3034G>A (p.Ala1012Thr) http://identifiers.org/clinvar/373972 ^@ NM_000548.4(TSC2):c.5160+4A>C http://identifiers.org/clinvar/374022 ^@ NM_001042492.2(NF1):c.2252-3T>G http://identifiers.org/clinvar/374122 ^@ NM_003332.3(TYROBP):c.94G>A (p.Asp32Asn) http://identifiers.org/clinvar/374226 ^@ NM_000834.3(GRIN2B):c.2116A>G (p.Met706Val) http://identifiers.org/clinvar/374346 ^@ NM_000028.2(AGL):c.3836+1G>A http://identifiers.org/clinvar/374296 ^@ NM_003482.3(KMT2D):c.2389C>G (p.Leu797Val) http://identifiers.org/clinvar/374412 ^@ NC_000023.10:g.135596446_136254970dup658525 http://identifiers.org/clinvar/374464 ^@ NM_001042545.1(LTBP4):c.1837G>A (p.Gly613Ser) http://identifiers.org/clinvar/374514 ^@ NM_013391.3(DMGDH):c.*8C>T http://identifiers.org/clinvar/374564 ^@ NM_007327.3(GRIN1):c.780C>T (p.Arg260=) http://identifiers.org/clinvar/374614 ^@ NM_019098.4(CNGB3):c.1889A>C (p.His630Pro) http://identifiers.org/clinvar/374664 ^@ NM_030962.3(SBF2):c.4799C>G (p.Thr1600Ser) http://identifiers.org/clinvar/374714 ^@ NM_173500.3(TTBK2):c.1897T>C (p.Tyr633His) http://identifiers.org/clinvar/374764 ^@ NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) http://identifiers.org/clinvar/374824 ^@ NM_000141.4(FGFR2):c.1922A>G (p.Lys641Arg) http://identifiers.org/clinvar/374874 ^@ NM_014727.2(KMT2B):c.402dupC (p.Ser135Glnfs) http://identifiers.org/clinvar/374941 ^@ NM_007294.3(BRCA1):c.3028C>T (p.Pro1010Ser) http://identifiers.org/clinvar/374994 ^@ NM_001846.3(COL4A2):c.3490G>A (p.Gly1164Arg) http://identifiers.org/clinvar/375326 ^@ NM_018668.4(VPS33B):c.319C>T (p.Arg107Ter) http://identifiers.org/clinvar/375272 ^@ NM_000405.4(GM2A):c.244-2A>T http://identifiers.org/clinvar/375377 ^@ NM_002114.3(HIVEP1):c.4089G>C (p.Met1363Ile) http://identifiers.org/clinvar/375432 ^@ NM_001453.2(FOXC1):c.1491C>G (p.Tyr497Ter) http://identifiers.org/clinvar/382417 ^@ NM_000179.2(MSH6):c.2973A>G (p.Pro991=) http://identifiers.org/clinvar/392098 ^@ NM_020919.3(ALS2):c.4466T>C (p.Leu1489Pro) http://identifiers.org/clinvar/391598 ^@ NM_003042.3(SLC6A1):c.740C>T (p.Pro247Leu) http://identifiers.org/clinvar/379822 ^@ NM_020191.2(MRPS22):c.767G>A (p.Arg256His) http://identifiers.org/clinvar/383770 ^@ NM_015120.4(ALMS1):c.11876-12T>C http://identifiers.org/clinvar/377923 ^@ NM_024996.5(GFM1):c.1909+13C>T http://identifiers.org/clinvar/391548 ^@ NM_015120.4(ALMS1):c.12116A>G (p.Gln4039Arg) http://identifiers.org/clinvar/383920 ^@ NM_182916.2(TRNT1):c.105C>T (p.Pro35=) http://identifiers.org/clinvar/388559 ^@ NM_000249.3(MLH1):c.1038+20A>G http://identifiers.org/clinvar/388759 ^@ NM_178862.2(STT3B):c.315-4C>G http://identifiers.org/clinvar/380173 ^@ NM_178862.2(STT3B):c.778-17C>A http://identifiers.org/clinvar/391298 ^@ NM_006514.3(SCN10A):c.5757G>A (p.Pro1919=) http://identifiers.org/clinvar/377823 ^@ NM_003494.3(DYSF):c.1192G>A (p.Val398Met) http://identifiers.org/clinvar/377473 ^@ NM_001148.4(ANK2):c.2249A>G (p.Gln750Arg) http://identifiers.org/clinvar/391848 ^@ NM_001999.3(FBN2):c.5703C>T (p.Asn1901=) http://identifiers.org/clinvar/391448 ^@ NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) http://identifiers.org/clinvar/382267 ^@ NM_054027.4(ANKH):c.1042G>A (p.Val348Met) http://identifiers.org/clinvar/390109 ^@ NM_014244.4(ADAMTS2):c.689-18G>A http://identifiers.org/clinvar/377873 ^@ NM_001999.3(FBN2):c.8043C>A (p.Pro2681=) http://identifiers.org/clinvar/384220 ^@ NM_002454.2(MTRR):c.1875G>T (p.Val625=) http://identifiers.org/clinvar/381966 ^@ NM_000806.5(GABRA1):c.*2T>A http://identifiers.org/clinvar/378075 ^@ NM_020117.10(LARS):c.1285-6C>T http://identifiers.org/clinvar/382467 ^@ NM_001167734.1(VARS2):c.954G>A (p.Ser318=) http://identifiers.org/clinvar/391148 ^@ NM_006514.3(SCN10A):c.1291-4G>A http://identifiers.org/clinvar/389309 ^@ NM_018341.2(ERMARD):c.1901C>T (p.Thr634Ile) http://identifiers.org/clinvar/381916 ^@ NM_004333.4(BRAF):c.1314+12T>C http://identifiers.org/clinvar/383619 ^@ NM_000048.3(ASL):c.1143+13C>A http://identifiers.org/clinvar/379022 ^@ NM_001182.4(ALDH7A1):c.552C>T (p.Pro184=) http://identifiers.org/clinvar/379372 ^@ NM_032446.2(MEGF10):c.59T>C (p.Ile20Thr) http://identifiers.org/clinvar/379722 ^@ NM_017780.3(CHD7):c.6175G>T (p.Glu2059Ter) http://identifiers.org/clinvar/380123 ^@ NM_017780.3(CHD7):c.6851G>A (p.Arg2284Gln) http://identifiers.org/clinvar/380273 ^@ NM_005260.5(GDF9):c.-32A>G http://identifiers.org/clinvar/389009 ^@ NM_014846.3(WASHC5):c.3181+4C>T http://identifiers.org/clinvar/378275 ^@ NM_004387.3(NKX2-5):c.852C>G (p.Ala284=) http://identifiers.org/clinvar/389959 ^@ NM_022455.4(NSD1):c.1064-10C>T http://identifiers.org/clinvar/377723 ^@ NM_000093.4(COL5A1):c.2646+14G>A http://identifiers.org/clinvar/383669 ^@ NM_020822.2(KCNT1):c.1032G>A (p.Leu344=) http://identifiers.org/clinvar/391998 ^@ NM_000426.3(LAMA2):c.4656C>A (p.Ala1552=) http://identifiers.org/clinvar/385160 ^@ NM_003165.3(STXBP1):c.1359+16A>C http://identifiers.org/clinvar/391048 ^@ NM_017617.4(NOTCH1):c.1272G>A (p.Glu424=) http://identifiers.org/clinvar/379772 ^@ NM_006904.6(PRKDC):c.16G>T (p.Ala6Ser) http://identifiers.org/clinvar/384370 ^@ NM_007327.3(GRIN1):c.258+18C>T http://identifiers.org/clinvar/388509 ^@ NM_001003800.1(BICD2):c.1421A>G (p.Tyr474Cys) http://identifiers.org/clinvar/389509 ^@ NM_018249.5(CDK5RAP2):c.1593A>G (p.Gln531=) http://identifiers.org/clinvar/380825 ^@ NM_020822.2(KCNT1):c.3256G>A (p.Gly1086Arg) http://identifiers.org/clinvar/391648 ^@ NM_002291.2(LAMB1):c.1382A>G (p.Asn461Ser) http://identifiers.org/clinvar/133504 ^@ NM_152424.3(AMER1):c.477T>G (p.Phe159Leu) http://identifiers.org/clinvar/133555 ^@ NM_006015.4(ARID1A):c.5318T>C (p.Leu1773Pro) http://identifiers.org/clinvar/133605 ^@ NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) http://identifiers.org/clinvar/133655 ^@ NM_000489.4(ATRX):c.2000C>T (p.Pro667Leu) http://identifiers.org/clinvar/133705 ^@ NM_000057.3(BLM):c.4102T>C (p.Ser1368Pro) http://identifiers.org/clinvar/133759 ^@ NM_032043.2(BRIP1):c.3701T>G (p.Phe1234Cys) http://identifiers.org/clinvar/133809 ^@ NM_005188.3(CBL):c.2077G>A (p.Glu693Lys) http://identifiers.org/clinvar/133859 ^@ NM_015083.2(CDK12):c.3584C>T (p.Thr1195Met) http://identifiers.org/clinvar/133909 ^@ NM_015125.4(CIC):c.3485A>C (p.Tyr1162Ser) http://identifiers.org/clinvar/133959 ^@ NM_015247.2(CYLD):c.1292G>A (p.Gly431Glu) http://identifiers.org/clinvar/134009 ^@ NM_001077706.2(ECT2L):c.713A>C (p.Glu238Ala) http://identifiers.org/clinvar/134061 ^@ NM_001429.3(EP300):c.7018G>A (p.Val2340Ile) http://identifiers.org/clinvar/134111 ^@ NM_000400.3(ERCC2):c.164T>C (p.Leu55Pro) http://identifiers.org/clinvar/134161 ^@ NM_000123.3(ERCC5):c.2458C>T (p.His820Tyr) http://identifiers.org/clinvar/134211 ^@ NM_207122.1(EXT2):c.260T>G (p.Met87Arg) http://identifiers.org/clinvar/134261 ^@ NM_000135.2(FANCA):c.2944A>G (p.Thr982Ala) http://identifiers.org/clinvar/134312 ^@ NM_001018115.2(FANCD2):c.1634A>G (p.Asn545Ser) http://identifiers.org/clinvar/134363 ^@ NM_004629.1(FANCG):c.176G>A (p.Gly59Glu) http://identifiers.org/clinvar/134413 ^@ NM_000143.3(FH):c.53C>T (p.Pro18Leu) http://identifiers.org/clinvar/134463 ^@ NM_002049.3(GATA1):c.949C>T (p.Arg317Trp) http://identifiers.org/clinvar/134513 ^@ NM_000545.6(HNF1A):c.1720_1733delGGCATCCAGCACCTinsGGCATCCAGCACC (p.Leu578Argfs) http://identifiers.org/clinvar/134563 ^@ NM_004972.3(JAK2):c.1177C>G (p.Leu393Val) http://identifiers.org/clinvar/134613 ^@ NM_002253.2(KDR):c.787C>T (p.Pro263Ser) http://identifiers.org/clinvar/134665 ^@ NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) http://identifiers.org/clinvar/134716 ^@ NM_003482.3(KMT2D):c.11120G>A (p.Arg3707Gln) http://identifiers.org/clinvar/134766 ^@ NM_170606.2(KMT2C):c.6073T>A (p.Ser2025Thr) http://identifiers.org/clinvar/134816 ^@ NM_170606.2(KMT2C):c.13967C>A (p.Ala4656Glu) http://identifiers.org/clinvar/135455 ^@ NM_024426.4(WT1):c.1139G>A (p.Arg380Gln) http://identifiers.org/clinvar/135505 ^@ NM_000545.6(HNF1A):c.1623+29T>C http://identifiers.org/clinvar/186746 ^@ NM_001042492.2(NF1):c.7536C>T (p.Gly2512=) http://identifiers.org/clinvar/184905 ^@ NM_001042492.2(NF1):c.8367G>A (p.Gln2789=) http://identifiers.org/clinvar/184605 ^@ NM_007294.3(BRCA1):c.4092C>T (p.Asn1364=) http://identifiers.org/clinvar/184655 ^@ NM_032043.2(BRIP1):c.561T>C (p.Val187=) http://identifiers.org/clinvar/187396 ^@ NM_032043.2(BRIP1):c.206-2A>G http://identifiers.org/clinvar/187696 ^@ NM_000546.5(TP53):c.433C>T (p.Leu145=) http://identifiers.org/clinvar/187800 ^@ NM_005215.3(DCC):c.3835_3836delCT (p.Leu1279Profs) http://identifiers.org/clinvar/187879 ^@ NM_005957.4(MTHFR):c.673A>C (p.Ile225Leu) http://identifiers.org/clinvar/187929 ^@ NM_004409.4(DMPK):c.*224_*226[1681] http://identifiers.org/clinvar/187979 ^@ NM_004409.4(DMPK):c.*224_*226[421] http://identifiers.org/clinvar/188688 ^@ NM_001001430.2(TNNT2):c.706C>T (p.Leu236=) http://identifiers.org/clinvar/188638 ^@ NM_000257.3(MYH7):c.4980A>C (p.Ala1660=) http://identifiers.org/clinvar/188939 ^@ NM_000642.2(AGL):c.3444C>G (p.Tyr1148Ter) http://identifiers.org/clinvar/188738 ^@ NM_000030.2(AGXT):c.481G>T (p.Gly161Cys) http://identifiers.org/clinvar/189090 ^@ NM_138694.3(PKHD1):c.9319C>T (p.Arg3107Ter) http://identifiers.org/clinvar/188838 ^@ NM_000441.1(SLC26A4):c.164+1delG http://identifiers.org/clinvar/188889 ^@ NM_000441.1(SLC26A4):c.1975G>C (p.Val659Leu) http://identifiers.org/clinvar/189190 ^@ NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) http://identifiers.org/clinvar/189140 ^@ NM_000051.3(ATM):c.8876_8879delACTG (p.Asp2959Glyfs) http://identifiers.org/clinvar/188788 ^@ NM_000049.2(ASPA):c.820G>A (p.Gly274Arg) http://identifiers.org/clinvar/189040 ^@ NM_000152.4(GAA):c.2104C>T (p.Arg702Cys) http://identifiers.org/clinvar/188989 ^@ NM_000071.2(CBS):c.306G>C (p.Lys102Asn) http://identifiers.org/clinvar/189257 ^@ NM_032790.3(ORAI1):c.412C>T (p.Leu138Phe) http://identifiers.org/clinvar/189310 ^@ NM_001098.2(ACO2):c.220C>G (p.Leu74Val) http://identifiers.org/clinvar/189392 ^@ NM_199261.3(TPTE):c.1357-3_1357-2delTA http://identifiers.org/clinvar/189458 ^@ NM_000314.6(PTEN):c.49C>T (p.Gln17Ter) http://identifiers.org/clinvar/189680 ^@ NC_000023.10:g.153281940_153332471del50532insTTTCCGACAAAGGT http://identifiers.org/clinvar/189630 ^@ NM_004992.3(MECP2):c.(?_1169)_*(1_?)del http://identifiers.org/clinvar/189580 ^@ NM_003159.2(CDKL5):c.-253_977+?del http://identifiers.org/clinvar/189730 ^@ NM_001110792.1(MECP2):c.903_1259del357insA (p.Ser303Glnfs) http://identifiers.org/clinvar/189530 ^@ NM_003159.2(CDKL5):c.145+4_145+5AT[15] http://identifiers.org/clinvar/189781 ^@ NM_138387.3(G6PC3):c.130C>T (p.Pro44Ser) http://identifiers.org/clinvar/189914 ^@ NM_001165963.1(SCN1A):c.5010_5013delGTTT (p.Phe1671Thrfs) http://identifiers.org/clinvar/189964 ^@ NM_001165963.1(SCN1A):c.4811G>A (p.Trp1604Ter) http://identifiers.org/clinvar/190014 ^@ NM_001165963.1(SCN1A):c.4168G>C (p.Val1390Leu) http://identifiers.org/clinvar/189864 ^@ NM_001165963.1(SCN1A):c.1076A>G (p.Asn359Ser) http://identifiers.org/clinvar/190149 ^@ NM_000124.3(ERCC6):c.150G>A (p.Val50=) http://identifiers.org/clinvar/190199 ^@ NM_001110556.1(FLNA):c.4943delC (p.Thr1648Lysfs) http://identifiers.org/clinvar/190255 ^@ NM_001306212.1(THBS4):c.1612C>T (p.Gln538Ter) http://identifiers.org/clinvar/228395 ^@ NM_000441.1(SLC26A4):c.1544+1G>A http://identifiers.org/clinvar/228545 ^@ NM_017460.5(CYP3A4):c.1463C>A (p.Pro488His) http://identifiers.org/clinvar/228345 ^@ NM_000503.5(EYA1):c.1090G>T (p.Glu364Ter) http://identifiers.org/clinvar/228495 ^@ NM_022124.5(CDH23):c.4786C>T (p.Arg1596Cys) http://identifiers.org/clinvar/228295 ^@ NM_005422.2(TECTA):c.6163-2A>T http://identifiers.org/clinvar/227555 ^@ NM_002458.2(MUC5B):c.2925G>A (p.Ala975=) http://identifiers.org/clinvar/226873 ^@ NM_001277269.1(OTOG):c.2755G>A (p.Ala919Thr) http://identifiers.org/clinvar/226923 ^@ NM_001277269.1(OTOG):c.8726G>C (p.Trp2909Ser) http://identifiers.org/clinvar/227655 ^@ NM_005379.3(MYO1A):c.1340G>A (p.Arg447Gln) http://identifiers.org/clinvar/226973 ^@ NM_173591.3(OTOGL):c.6755-3C>T http://identifiers.org/clinvar/226623 ^@ NM_000115.4(EDNRB):c.49C>T (p.Leu17Phe) http://identifiers.org/clinvar/226573 ^@ NM_178452.5(DNAAF1):c.1296G>C (p.Glu432Asp) http://identifiers.org/clinvar/227705 ^@ NM_003803.3(MYOM1):c.5001G>A (p.Glu1667=) http://identifiers.org/clinvar/226823 ^@ NM_003803.3(MYOM1):c.4358T>C (p.Met1453Thr) http://identifiers.org/clinvar/226723 ^@ NM_003573.2(LTBP4):c.4456+8C>T http://identifiers.org/clinvar/226523 ^@ NM_006012.2(CLPP):c.801G>A (p.Ala267=) http://identifiers.org/clinvar/227605 ^@ NM_002473.5(MYH9):c.2989C>T (p.Leu997=) http://identifiers.org/clinvar/228595 ^@ NM_004006.2(DMD):c.8582T>C (p.Val2861Ala) http://identifiers.org/clinvar/227475 ^@ NM_002290.4(LAMA4):c.3336T>G (p.Pro1112=) http://identifiers.org/clinvar/228445 ^@ NM_001692.3(ATP6V1B1):c.1382C>T (p.Pro461Leu) http://identifiers.org/clinvar/234723 ^@ NM_018136.4(ASPM):c.10057T>C (p.Tyr3353His) http://identifiers.org/clinvar/234471 ^@ NM_018136.4(ASPM):c.8124T>G (p.Tyr2708Ter) http://identifiers.org/clinvar/234299 ^@ NM_004895.4(NLRP3):c.2305G>A (p.Gly769Ser) http://identifiers.org/clinvar/234874 ^@ NM_000179.2(MSH6):c.3978G>C (p.Met1326Ile) http://identifiers.org/clinvar/234773 ^@ NM_001999.3(FBN2):c.3304A>G (p.Ser1102Gly) http://identifiers.org/clinvar/234623 ^@ NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) http://identifiers.org/clinvar/234673 ^@ NM_000535.6(PMS2):c.1778delA (p.Lys593Serfs) http://identifiers.org/clinvar/234823 ^@ NM_000314.6(PTEN):c.-862G>A http://identifiers.org/clinvar/234421 ^@ NM_001065.3(TNFRSF1A):c.282C>G (p.Asn94Lys) http://identifiers.org/clinvar/234351 ^@ NM_000243.2(MEFV):c.407G>A (p.Gly136Glu) http://identifiers.org/clinvar/234573 ^@ NM_032043.2(BRIP1):c.-30-6T>C http://identifiers.org/clinvar/234522 ^@ NM_000214.2(JAG1):c.2566C>T (p.Gln856Ter) http://identifiers.org/clinvar/233497 ^@ NM_000143.3(FH):c.1120C>A (p.Pro374Thr) http://identifiers.org/clinvar/232997 ^@ NM_001128425.1(MUTYH):c.475C>A (p.Leu159Met) http://identifiers.org/clinvar/234189 ^@ NM_000465.3(BARD1):c.1264G>A (p.Val422Met) http://identifiers.org/clinvar/232346 ^@ NM_000251.2(MSH2):c.11A>T (p.Gln4Leu) http://identifiers.org/clinvar/233547 ^@ NM_000251.2(MSH2):c.160delG (p.Ala54Profs) http://identifiers.org/clinvar/233297 ^@ NM_000179.2(MSH6):c.1525G>C (p.Val509Leu) http://identifiers.org/clinvar/232396 ^@ NM_000179.2(MSH6):c.3757G>A (p.Val1253Ile) http://identifiers.org/clinvar/233147 ^@ NM_000179.2(MSH6):c.3802-5T>C http://identifiers.org/clinvar/263582 ^@ NM_002474.2(MYH11):c.3379C>T (p.Leu1127=) http://identifiers.org/clinvar/263429 ^@ NM_004006.2:c.2645A>G http://identifiers.org/clinvar/264753 ^@ NM_001242896.1(DEPDC5):c.842A>T (p.Tyr281Phe) http://identifiers.org/clinvar/264958 ^@ NM_000059.3(BRCA2):c.6842-1350T>C http://identifiers.org/clinvar/264908 ^@ NM_000059.3(BRCA2):c.6937+321T>C http://identifiers.org/clinvar/264858 ^@ NM_007294.3(BRCA1):c.5074+1388A>G http://identifiers.org/clinvar/264808 ^@ NM_007294.3(BRCA1):c.81-413dup http://identifiers.org/clinvar/265669 ^@ NM_024529.4(CDC73):c.109A>T (p.Lys37Ter) http://identifiers.org/clinvar/265010 ^@ NM_000350.2(ABCA4):c.838A>T (p.Met280Leu) http://identifiers.org/clinvar/265113 ^@ NM_022336.3(EDAR):c.212G>A (p.Cys71Tyr) http://identifiers.org/clinvar/265619 ^@ NM_001204.6(BMPR2):c.1789C>T (p.Arg597Ter) http://identifiers.org/clinvar/265418 ^@ NM_000203.4(IDUA):c.713T>A (p.Leu238Gln) http://identifiers.org/clinvar/265267 ^@ NM_198253.2(TERT):c.1700C>T (p.Thr567Met) http://identifiers.org/clinvar/265163 ^@ NM_000806.5(GABRA1):c.1225C>T (p.Pro409Ser) http://identifiers.org/clinvar/265318 ^@ NM_001101.3(ACTB):c.617G>A (p.Arg206Gln) http://identifiers.org/clinvar/265215 ^@ NM_194456.1(KRIT1):c.1146+1G>A http://identifiers.org/clinvar/265518 ^@ NM_003919.2(SGCE):c.1210_1213delGACA (p.Asp404Thrfs) http://identifiers.org/clinvar/265468 ^@ NM_000127.2(EXT1):c.535C>T (p.Gln179Ter) http://identifiers.org/clinvar/265569 ^@ NM_000051.3(ATM):c.4437-1G>A http://identifiers.org/clinvar/265368 ^@ NM_024675.3(PALB2):c.3244_3245delAG (p.Ser1082Terfs) http://identifiers.org/clinvar/265063 ^@ NM_001127221.1(CACNA1A):c.1562A>G (p.Tyr521Cys) http://identifiers.org/clinvar/265751 ^@ NM_024818.4(UBA5):c.971_972insC (p.Lys324Asnfs) http://identifiers.org/clinvar/265856 ^@ NM_000451.3(SHOX):c.-372G>A http://identifiers.org/clinvar/265908 ^@ NM_000527.4(LDLR):c.2548-80G>A http://identifiers.org/clinvar/265961 ^@ NM_000050.4(ASS1):c.851C>T (p.Thr284Ile) http://identifiers.org/clinvar/266013 ^@ NM_018685.4(ANLN):c.1138C>T (p.Arg380Cys) http://identifiers.org/clinvar/266090 ^@ NM_024649.4:r.1232_3423del http://identifiers.org/clinvar/267029 ^@ NM_000059.3(BRCA2):c.765_770delCACAAAinsAAACAAT (p.Asn255Lysfs) http://identifiers.org/clinvar/266929 ^@ NM_000059.3(BRCA2):c.6199delT (p.Ser2067Profs) http://identifiers.org/clinvar/266979 ^@ NM_000059.3(BRCA2):c.7002delC (p.Arg2336Alafs) http://identifiers.org/clinvar/267079 ^@ NM_000059.3(BRCA2):c.8393_8396dupCTAG (p.Arg2799Serfs) http://identifiers.org/clinvar/267129 ^@ NM_000059.3(BRCA2):c.9019_9020insTCTA (p.Arg3007Ilefs) http://identifiers.org/clinvar/266140 ^@ NM_007294.3(BRCA1):c.1171G>T (p.Glu391Ter) http://identifiers.org/clinvar/267398 ^@ c.2T>C http://identifiers.org/clinvar/267480 ^@ NC_000016.9:g.(?_88230760)_(89363742_?)del http://identifiers.org/clinvar/267636 ^@ NM_000059.3(BRCA2):c.276_317-722delinsCCAT http://identifiers.org/clinvar/267686 ^@ NM_000059.3(BRCA2):c.7806-2A>T http://identifiers.org/clinvar/267536 ^@ NM_007294.3(BRCA1):c.4358-?_5074+?del http://identifiers.org/clinvar/267586 ^@ NM_007294.3(BRCA1):c.5194-452_5277+3638del http://identifiers.org/clinvar/267740 ^@ NM_007294.3(BRCA1):c.5243_5277+2788del http://identifiers.org/clinvar/267815 ^@ 46;X;t(X;5)(p11.23;q35)dn http://identifiers.org/clinvar/267866 ^@ 46;X;t(X;18)(p11.4;q12.2)dn http://identifiers.org/clinvar/267916 ^@ 46;XY;t(10;14)(q11.2;q21)dn http://identifiers.org/clinvar/267966 ^@ 46;XX;t(2;5)(q33;p15.3) http://identifiers.org/clinvar/268016 ^@ 46;XY;inv(1)(p22.3p34.1)dn http://identifiers.org/clinvar/268069 ^@ NC_000001.10:g.(?_246118050)_(246815596_?)dup http://identifiers.org/clinvar/268132 ^@ NM_004380.2(CREBBP):c.4134-1G>T http://identifiers.org/clinvar/268204 ^@ NM_006180.4(NTRK2):c.1301A>G (p.Tyr434Cys) http://identifiers.org/clinvar/279612 ^@ NM_030813.5(CLPB):c.1937dupG (p.Cys647Leufs) http://identifiers.org/clinvar/279933 ^@ NM_002016.1(FLG):c.9947C>G (p.Ser3316Ter) http://identifiers.org/clinvar/290919 ^@ NM_033337.2(CAV3):c.10_17delGAAGAGCA (p.Glu4Hisfs) http://identifiers.org/clinvar/290969 ^@ NM_003742.2(ABCB11):c.236T>A (p.Val79Glu) http://identifiers.org/clinvar/291019 ^@ NM_005603.4(ATP8B1):c.433C>T (p.Leu145=) http://identifiers.org/clinvar/291069 ^@ NM_005609.3(PYGM):c.1787A>G (p.Asn596Ser) http://identifiers.org/clinvar/291119 ^@ NM_005572.3(LMNA):c.1490T>C (p.Ile497Thr) http://identifiers.org/clinvar/291677 ^@ NM_004565.2(PEX14):c.475G>A (p.Val159Met) http://identifiers.org/clinvar/291627 ^@ NM_015074.3(KIF1B):c.*2698G>A http://identifiers.org/clinvar/291927 ^@ NM_000036.2(AMPD1):c.2025A>G (p.Leu675=) http://identifiers.org/clinvar/291727 ^@ NM_007375.3(TARDBP):c.-126G>T http://identifiers.org/clinvar/291877 ^@ NM_013319.2(UBIAD1):c.*465_*466delAG http://identifiers.org/clinvar/291977 ^@ NM_002524.4(NRAS):c.-106G>T http://identifiers.org/clinvar/291777 ^@ NM_006610.3(MASP2):c.1731A>C (p.Gln577His) http://identifiers.org/clinvar/291827 ^@ NM_003051.3(SLC16A1):c.*1942T>C http://identifiers.org/clinvar/292916 ^@ NM_007272.2(CTRC):c.803T>A (p.Leu268Gln) http://identifiers.org/clinvar/292716 ^@ NM_001111.4(ADAR):c.*1799_*1800delGT http://identifiers.org/clinvar/292816 ^@ NM_000298.5(PKLR):c.284-9T>C http://identifiers.org/clinvar/293316 ^@ NM_003001.3(SDHC):c.21-10dupT http://identifiers.org/clinvar/293016 ^@ NM_003126.2(SPTA1):c.2418G>A (p.Glu806=) http://identifiers.org/clinvar/293366 ^@ NM_003001.3(SDHC):c.*2156A>C http://identifiers.org/clinvar/293516 ^@ NM_006996.2(SLC19A2):c.*638G>A http://identifiers.org/clinvar/293766 ^@ NM_022089.3(ATP13A2):c.3406-14C>T http://identifiers.org/clinvar/292666 ^@ NM_152263.3(TPM3):c.*2185C>T http://identifiers.org/clinvar/293666 ^@ NM_152281.2(GORAB):c.*349G>A http://identifiers.org/clinvar/292766 ^@ NM_001111.4(ADAR):c.2668+6T>C http://identifiers.org/clinvar/292866 ^@ NM_022367.3(SEMA4A):c.*371T>C http://identifiers.org/clinvar/292966 ^@ NM_003126.2(SPTA1):c.5643A>G (p.Gln1881=) http://identifiers.org/clinvar/293066 ^@ NM_003126.2(SPTA1):c.-126dupT http://identifiers.org/clinvar/293116 ^@ NM_002241.4(KCNJ10):c.*52G>A http://identifiers.org/clinvar/293166 ^@ NM_000702.3(ATP1A2):c.*1241delT http://identifiers.org/clinvar/293216 ^@ NM_002857.3(PEX19):c.*854G>A http://identifiers.org/clinvar/293416 ^@ NM_004431.4(EPHA2):c.1984G>A (p.Gly662Ser) http://identifiers.org/clinvar/293266 ^@ NM_004550.4(NDUFS2):c.-159C>A http://identifiers.org/clinvar/293466 ^@ NM_005149.2(TBX19):c.603+10_603+11insTTGTGT http://identifiers.org/clinvar/293566 ^@ NM_000130.4(F5):c.*363T>G http://identifiers.org/clinvar/293616 ^@ NM_000130.4(F5):c.2906A>G (p.Asn969Ser) http://identifiers.org/clinvar/293816 ^@ NM_003000.2(SDHB):c.47C>G (p.Thr16Arg) http://identifiers.org/clinvar/293716 ^@ NM_000261.1(MYOC):c.568G>T (p.Asp190Tyr) http://identifiers.org/clinvar/293866 ^@ NM_033343.3(LHX4):c.452-5T>C http://identifiers.org/clinvar/294905 ^@ NM_003465.2(CHIT1):c.*124A>C http://identifiers.org/clinvar/344297 ^@ NM_145261.3(DNAJC19):c.129+15A>C http://identifiers.org/clinvar/344447 ^@ NM_006580.3(CLDN16):c.255C>G (p.Phe85Leu) http://identifiers.org/clinvar/344497 ^@ NM_015560.2(OPA1):c.*694C>A http://identifiers.org/clinvar/336528 ^@ NM_001135659.2(NRXN1):c.*967_*970dupACTT http://identifiers.org/clinvar/336578 ^@ NM_001135659.2(NRXN1):c.-1057C>G http://identifiers.org/clinvar/336678 ^@ NM_002618.3(PEX13):c.*383A>T http://identifiers.org/clinvar/336371 ^@ NM_139279.5(MCFD2):c.*517C>G http://identifiers.org/clinvar/344047 ^@ NM_001041.3(SI):c.1910T>G (p.Phe637Cys) http://identifiers.org/clinvar/344097 ^@ NM_000055.3(BCHE):c.428G>A (p.Gly143Asp) http://identifiers.org/clinvar/345197 ^@ NM_018075.4(ANO10):c.74A>C (p.Gln25Pro) http://identifiers.org/clinvar/344247 ^@ NM_181426.1(CCDC39):c.*532dupC http://identifiers.org/clinvar/344347 ^@ NM_005787.5(ALG3):c.1146C>T (p.His382=) http://identifiers.org/clinvar/336628 ^@ NM_001039348.2(EFEMP1):c.518-11G>A http://identifiers.org/clinvar/344397 ^@ NM_003722.4(TP63):c.*379T>A http://identifiers.org/clinvar/337078 ^@ NM_004082.4(DCTN1):c.3146G>A (p.Arg1049Gln) http://identifiers.org/clinvar/344597 ^@ NM_000461.4(THRB):c.*2204C>G http://identifiers.org/clinvar/337178 ^@ NM_000821.6(GGCX):c.*4538A>G http://identifiers.org/clinvar/336978 ^@ NM_003494.3(DYSF):c.*53G>A http://identifiers.org/clinvar/344797 ^@ NM_000404.3(GLB1):c.-25C>G http://identifiers.org/clinvar/337028 ^@ NM_015120.4(ALMS1):c.9227C>T (p.Ser3076Phe) http://identifiers.org/clinvar/344847 ^@ NM_006371.4(CRTAP):c.*2147A>G http://identifiers.org/clinvar/344897 ^@ NM_006371.4(CRTAP):c.*5054A>G http://identifiers.org/clinvar/344997 ^@ NM_001106.3(ACVR2B):c.*5086C>G http://identifiers.org/clinvar/345097 ^@ NM_198056.2(SCN5A):c.*663C>A http://identifiers.org/clinvar/345147 ^@ NM_017875.2(SLC25A38):c.382A>G (p.Met128Val) http://identifiers.org/clinvar/337578 ^@ NM_020184.3(CNNM4):c.135G>A (p.Thr45=) http://identifiers.org/clinvar/342258 ^@ NM_033084.4(FANCD2):c.1116C>T (p.Ala372=) http://identifiers.org/clinvar/342508 ^@ NM_000551.3(VHL):c.*3545C>A http://identifiers.org/clinvar/342558 ^@ NM_198196.2(CD96):c.*680C>G http://identifiers.org/clinvar/342658 ^@ NM_020754.3(ARHGAP31):c.2407G>A (p.Gly803Ser) http://identifiers.org/clinvar/347546 ^@ NM_152778.2(MFSD8):c.-100G>C http://identifiers.org/clinvar/343108 ^@ NM_002880.3(RAF1):c.-181T>C http://identifiers.org/clinvar/347646 ^@ NM_172250.2(MMAA):c.*2479G>A http://identifiers.org/clinvar/343058 ^@ NM_025265.3(TSEN2):c.-219C>G http://identifiers.org/clinvar/347696 ^@ NM_000901.4(NR3C2):c.*1406A>T http://identifiers.org/clinvar/347796 ^@ NM_005141.4(FGB):c.*1517T>C http://identifiers.org/clinvar/347996 ^@ NM_006017.2(PROM1):c.1218C>G (p.Leu406=) http://identifiers.org/clinvar/348446 ^@ NM_133330.2(NSD2):c.3495C>T (p.Ala1165=) http://identifiers.org/clinvar/354213 ^@ NM_003664.4(AP3B1):c.*507G>A http://identifiers.org/clinvar/354263 ^@ NM_000046.3(ARSB):c.*2859T>C http://identifiers.org/clinvar/354363 ^@ NM_002454.2(MTRR):c.1472G>A (p.Gly491Asp) http://identifiers.org/clinvar/354313 ^@ NM_000046.3(ARSB):c.510G>C (p.Leu170=) http://identifiers.org/clinvar/362801 ^@ NM_000553.4(WRN):c.1795A>G (p.Ile599Val) http://identifiers.org/clinvar/362851 ^@ NM_000349.2(STAR):c.-70G>T http://identifiers.org/clinvar/354563 ^@ NM_002397.4(MEF2C):c.*2876T>G http://identifiers.org/clinvar/362901 ^@ NM_023110.2(FGFR1):c.600C>T (p.Asp200=) http://identifiers.org/clinvar/359163 ^@ NM_014141.5(CNTNAP2):c.-331dupT http://identifiers.org/clinvar/354663 ^@ NM_005068.2(SIM1):c.*1331T>C http://identifiers.org/clinvar/363001 ^@ NM_000037.3(ANK1):c.3652C>T (p.Arg1218Trp) http://identifiers.org/clinvar/363051 ^@ NM_000037.3(ANK1):c.229-11A>G http://identifiers.org/clinvar/359263 ^@ NM_014141.5(CNTNAP2):c.*4071G>A http://identifiers.org/clinvar/363201 ^@ NM_005914.3(MCM4):c.-372G>A http://identifiers.org/clinvar/354813 ^@ NM_007214.4(SEC63):c.*3574_*3575insGAC http://identifiers.org/clinvar/363501 ^@ NM_017780.3(CHD7):c.*1189A>C http://identifiers.org/clinvar/363651 ^@ NM_000503.5(EYA1):c.966+4C>T http://identifiers.org/clinvar/355414 ^@ NM_006208.2(ENPP1):c.*3252_*3256dupTTCTT http://identifiers.org/clinvar/363851 ^@ NM_019098.4(CNGB3):c.*1183T>C http://identifiers.org/clinvar/359902 ^@ NM_018947.5(CYCS):c.*2763T>C http://identifiers.org/clinvar/359952 ^@ NM_005522.4(HOXA1):c.*181G>A http://identifiers.org/clinvar/355364 ^@ NM_006208.2(ENPP1):c.*485C>A http://identifiers.org/clinvar/361052 ^@ NM_017890.4(VPS13B):c.2934+14A>T http://identifiers.org/clinvar/360152 ^@ NM_133468.4(BMPER):c.*2170A>G http://identifiers.org/clinvar/355514 ^@ NM_017651.4(AHI1):c.-214G>A http://identifiers.org/clinvar/360302 ^@ NM_000162.3(GCK):c.198A>G (p.Pro66=) http://identifiers.org/clinvar/360352 ^@ NM_014855.2(AP5Z1):c.*276T>C http://identifiers.org/clinvar/364690 ^@ NM_015404.3(WHRN):c.1331A>G (p.Tyr444Cys) http://identifiers.org/clinvar/364740 ^@ NM_012210.3(TRIM32):c.*1490A>C http://identifiers.org/clinvar/360602 ^@ NM_153033.4(KCTD7):c.*1123A>G http://identifiers.org/clinvar/364890 ^@ NM_002316.3(LMX1B):c.*27G>A http://identifiers.org/clinvar/364940 ^@ NM_002316.3(LMX1B):c.*1673C>G http://identifiers.org/clinvar/360802 ^@ NM_000443.3(ABCB4):c.927T>C (p.Tyr309=) http://identifiers.org/clinvar/365140 ^@ NM_001003722.1(GLE1):c.*390C>T http://identifiers.org/clinvar/365190 ^@ NM_001130438.2(SPTAN1):c.*284A>G http://identifiers.org/clinvar/360952 ^@ NM_000089.3(COL1A2):c.1051G>A (p.Ala351Thr) http://identifiers.org/clinvar/365290 ^@ NM_007171.3(POMT1):c.*278T>C http://identifiers.org/clinvar/361002 ^@ NM_014251.2(SLC25A13):c.*570G>A http://identifiers.org/clinvar/365490 ^@ NM_000368.4(TSC1):c.*817G>T http://identifiers.org/clinvar/361252 ^@ NM_178857.5(RP1L1):c.5447G>A (p.Gly1816Asp) http://identifiers.org/clinvar/365640 ^@ NM_000787.3(DBH):c.602A>G (p.Asn201Ser) http://identifiers.org/clinvar/303232 ^@ NM_022370.3(ROBO3):c.1034-13C>G http://identifiers.org/clinvar/311291 ^@ NM_021954.3(GJA3):c.*2870C>T http://identifiers.org/clinvar/303282 ^@ NM_022370.3(ROBO3):c.4150-11T>C http://identifiers.org/clinvar/303382 ^@ NM_016952.4(CDON):c.*3628C>G http://identifiers.org/clinvar/311641 ^@ NM_015972.3(POLR1D):c.-149C>T http://identifiers.org/clinvar/303582 ^@ NM_000890.3(KCNJ5):c.-303_-291delCACACACACACACinsGAG http://identifiers.org/clinvar/367659 ^@ NM_000264.3(PTCH1):c.*237G>C http://identifiers.org/clinvar/367359 ^@ NM_033305.2(VPS13A):c.1900+9C>T http://identifiers.org/clinvar/298604 ^@ NM_016169.3(SUFU):c.*2553T>C http://identifiers.org/clinvar/367609 ^@ NM_000136.2(FANCC):c.1544C>G (p.Thr515Ser) http://identifiers.org/clinvar/298804 ^@ NM_001134363.2(RBM20):c.*20A>T http://identifiers.org/clinvar/304332 ^@ NM_000280.4(PAX6):c.*2305G>A http://identifiers.org/clinvar/304382 ^@ NM_024426.4(WT1):c.*1049delG http://identifiers.org/clinvar/312730 ^@ NM_000270.3(PNP):c.285+10A>G http://identifiers.org/clinvar/304432 ^@ NM_024426.4(WT1):c.-91T>C http://identifiers.org/clinvar/298904 ^@ NM_004132.4(HABP2):c.568+3A>G http://identifiers.org/clinvar/304532 ^@ NM_000448.2(RAG1):c.*2442G>A http://identifiers.org/clinvar/298654 ^@ NM_017649.4(CNNM2):c.*205G>A http://identifiers.org/clinvar/313180 ^@ NM_006194.3(PAX9):c.*511T>C http://identifiers.org/clinvar/299104 ^@ NM_001609.3(ACADSB):c.*473G>C http://identifiers.org/clinvar/304632 ^@ NM_021926.3(ALX4):c.*2828C>T http://identifiers.org/clinvar/313330 ^@ NM_002863.4(PYGL):c.691G>A (p.Val231Met) http://identifiers.org/clinvar/313430 ^@ NM_007374.2(SIX6):c.572+15G>A http://identifiers.org/clinvar/299404 ^@ NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) http://identifiers.org/clinvar/298954 ^@ NM_004281.3(BAG3):c.-87G>T http://identifiers.org/clinvar/313780 ^@ NM_000347.5(SPTB):c.345T>C (p.Asn115=) http://identifiers.org/clinvar/313830 ^@ NM_002382.4(MAX):c.-127G>A http://identifiers.org/clinvar/299254 ^@ NM_006214.3(PHYH):c.415-11delT http://identifiers.org/clinvar/299504 ^@ NM_001081.3(CUBN):c.2487G>A (p.Ser829=) http://identifiers.org/clinvar/314669 ^@ NM_004863.3(SPTLC2):c.1247T>C (p.Val416Ala) http://identifiers.org/clinvar/299754 ^@ NM_014915.2(ANKRD26):c.948T>C (p.Asp316=) http://identifiers.org/clinvar/305923 ^@ NM_012309.4(SHANK2):c.332G>A (p.Arg111His) http://identifiers.org/clinvar/315069 ^@ NM_177438.2(DICER1):c.*2169A>G http://identifiers.org/clinvar/315419 ^@ NM_144599.4(NIPA1):c.*37A>T http://identifiers.org/clinvar/315369 ^@ NM_144599.4(NIPA1):c.*2949C>G http://identifiers.org/clinvar/315569 ^@ NM_133647.1(SLC12A6):c.*2516_*2517insTC http://identifiers.org/clinvar/315719 ^@ NM_005159.4(ACTC1):c.-105C>A http://identifiers.org/clinvar/300793 ^@ NM_014000.2(VCL):c.2006G>A (p.Arg669Gln) http://identifiers.org/clinvar/315819 ^@ NM_002225.3(IVD):c.*1213A>T http://identifiers.org/clinvar/315919 ^@ NM_138477.2(CDAN1):c.3559-11A>G http://identifiers.org/clinvar/315969 ^@ NM_173500.3(TTBK2):c.*583A>T http://identifiers.org/clinvar/315169 ^@ NM_139057.3(ADAMTS17):c.*1899delA http://identifiers.org/clinvar/311141 ^@ NM_001846.3(COL4A2):c.2004C>T (p.Ala668=) http://identifiers.org/clinvar/329392 ^@ NM_001022.3(RPS19):c.68A>G (p.Lys23Arg) http://identifiers.org/clinvar/311241 ^@ NM_000131.4(F7):c.*563_*564delAT http://identifiers.org/clinvar/318261 ^@ NM_004970.2(IGFALS):c.340G>A (p.Glu114Lys) http://identifiers.org/clinvar/311591 ^@ NM_018451.4(CENPJ):c.*570T>C http://identifiers.org/clinvar/318361 ^@ NM_001039.3(SCNN1G):c.*106G>A http://identifiers.org/clinvar/318561 ^@ NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) http://identifiers.org/clinvar/330381 ^@ NM_000208.3(INSR):c.*2633delA http://identifiers.org/clinvar/310486 ^@ NM_024685.3(BBS10):c.*106C>T http://identifiers.org/clinvar/310741 ^@ NM_018979.3(WNK1):c.1855A>G (p.Thr619Ala) http://identifiers.org/clinvar/310641 ^@ NM_025114.3(CEP290):c.-235T>G http://identifiers.org/clinvar/306737 ^@ NM_018979.3(WNK1):c.*2576_*2579dupAAGA http://identifiers.org/clinvar/337778 ^@ NM_006363.4(SEC23B):c.-394A>C http://identifiers.org/clinvar/310691 ^@ NM_002108.3(HAL):c.*555G>A http://identifiers.org/clinvar/311041 ^@ NM_001845.5(COL4A1):c.3288A>G (p.Pro1096=) http://identifiers.org/clinvar/312630 ^@ NM_001376.4(DYNC1H1):c.5217C>T (p.Ile1739=) http://identifiers.org/clinvar/311191 ^@ NM_001846.3(COL4A2):c.4916C>T (p.Ser1639Leu) http://identifiers.org/clinvar/312680 ^@ NM_022489.3(INF2):c.966C>T (p.Ala322=) http://identifiers.org/clinvar/312880 ^@ NM_002471.3(MYH6):c.934G>A (p.Ala312Thr) http://identifiers.org/clinvar/320151 ^@ NM_004614.4(TK2):c.*615A>C http://identifiers.org/clinvar/313080 ^@ NM_021914.7(CFL2):c.*1905A>G http://identifiers.org/clinvar/320351 ^@ NM_001605.2(AARS):c.671+3A>G http://identifiers.org/clinvar/313230 ^@ NM_020937.3(FANCM):c.*104_*107delTTTA http://identifiers.org/clinvar/320401 ^@ NM_000353.2(TAT):c.*208G>A http://identifiers.org/clinvar/311691 ^@ NM_004795.3(KL):c.1109G>C (p.Cys370Ser) http://identifiers.org/clinvar/320501 ^@ NM_024306.4(FA2H):c.232G>A (p.Glu78Lys) http://identifiers.org/clinvar/311791 ^@ NM_000538.3(RFXAP):c.756A>G (p.Gln252=) http://identifiers.org/clinvar/320701 ^@ NM_022041.3(GAN):c.*1839G>A http://identifiers.org/clinvar/320751 ^@ NM_012213.2(MLYCD):c.*288G>T http://identifiers.org/clinvar/339368 ^@ NM_025219.2(DNAJC5):c.*412C>T http://identifiers.org/clinvar/320801 ^@ NM_001451.2(FOXF1):c.*196T>C http://identifiers.org/clinvar/339468 ^@ NM_012469.3(PRPF6):c.1100G>A (p.Arg367His) http://identifiers.org/clinvar/313630 ^@ NM_182914.2(SYNE2):c.17431-3T>C http://identifiers.org/clinvar/339568 ^@ NM_000933.3(PLCB4):c.1713C>T (p.Tyr571=) http://identifiers.org/clinvar/313880 ^@ NM_015346.3(ZFYVE26):c.6405G>A (p.Leu2135=) http://identifiers.org/clinvar/321301 ^@ NM_003119.3(SPG7):c.*656G>C http://identifiers.org/clinvar/321351 ^@ NM_000135.2(FANCA):c.1990A>G (p.Met664Val) http://identifiers.org/clinvar/340368 ^@ NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) http://identifiers.org/clinvar/342108 ^@ NM_015166.3(MLC1):c.279G>A (p.Ser93=) http://identifiers.org/clinvar/326453 ^@ NM_177986.4(DSG4):c.2777A>G (p.Asp926Gly) http://identifiers.org/clinvar/326503 ^@ NM_001943.4(DSG2):c.*425T>C http://identifiers.org/clinvar/328392 ^@ NM_000435.2(NOTCH3):c.3719-11C>T http://identifiers.org/clinvar/326753 ^@ NM_015559.2(SETBP1):c.3618T>C (p.His1206=) http://identifiers.org/clinvar/328492 ^@ NM_000215.3(JAK3):c.*252A>T http://identifiers.org/clinvar/326853 ^@ NM_144612.6(LOXHD1):c.2907G>A (p.Glu969=) http://identifiers.org/clinvar/326953 ^@ NM_001080467.2(MYO5B):c.*2164_*2165insA http://identifiers.org/clinvar/367959 ^@ NM_003413.3(ZIC3):c.*1189A>G http://identifiers.org/clinvar/328892 ^@ NM_003332.3(TYROBP):c.*25A>C http://identifiers.org/clinvar/327642 ^@ NM_133459.3(CCBE1):c.*2297_*2298dupAA http://identifiers.org/clinvar/328142 ^@ NM_000121.3(EPOR):c.1139C>T (p.Pro380Leu) http://identifiers.org/clinvar/328292 ^@ NM_006397.2(RNASEH2A):c.637+8G>A http://identifiers.org/clinvar/328442 ^@ NM_173483.3(CYP4F22):c.939+15_939+40del26insTGGAGGGTGGAGCCCTGCCTGGGA http://identifiers.org/clinvar/330431 ^@ NM_000208.3(INSR):c.*334delC http://identifiers.org/clinvar/328542 ^@ NM_000453.2(SLC5A5):c.1626C>T (p.Cys542=) http://identifiers.org/clinvar/330531 ^@ NM_006702.4(PNPLA6):c.2808C>A (p.Gly936=) http://identifiers.org/clinvar/328942 ^@ NM_032753.3(RAX2):c.*1366C>G http://identifiers.org/clinvar/329042 ^@ NM_000540.2(RYR1):c.5921G>A (p.Arg1974Gln) http://identifiers.org/clinvar/329442 ^@ NM_014297.4(ETHE1):c.371G>T (p.Arg124Leu) http://identifiers.org/clinvar/329492 ^@ NM_212550.4(BLOC1S3):c.*1700G>A http://identifiers.org/clinvar/339418 ^@ NM_025219.2(DNAJC5):c.*2993C>T http://identifiers.org/clinvar/339518 ^@ NM_015192.3(PLCB1):c.*93delC http://identifiers.org/clinvar/339668 ^@ NM_000454.4(SOD1):c.66G>A (p.Glu22=) http://identifiers.org/clinvar/339718 ^@ NM_172201.1(KCNE2):c.153G>T (p.Leu51=) http://identifiers.org/clinvar/339868 ^@ NM_001754.4(RUNX1):c.*121G>C http://identifiers.org/clinvar/337728 ^@ NM_000214.2(JAG1):c.*914G>A http://identifiers.org/clinvar/340068 ^@ NM_024022.2(TMPRSS3):c.-188_-187delCG http://identifiers.org/clinvar/340118 ^@ NM_000100.3(CSTB):c.*227A>G http://identifiers.org/clinvar/340268 ^@ NM_130445.3(COL18A1):c.3549C>T (p.Asp1183=) http://identifiers.org/clinvar/340318 ^@ NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr) http://identifiers.org/clinvar/340669 ^@ NM_014339.6(IL17RA):c.*2963C>T http://identifiers.org/clinvar/341558 ^@ NM_013416.3(NCF4):c.*23G>T http://identifiers.org/clinvar/341608 ^@ NM_006941.3(SOX10):c.*1086_*1087delTC http://identifiers.org/clinvar/339818 ^@ NM_001754.4(RUNX1):c.*2840A>T http://identifiers.org/clinvar/339918 ^@ NM_000411.6(HLCS):c.*2814C>T http://identifiers.org/clinvar/339968 ^@ NM_000411.6(HLCS):c.399C>T (p.Tyr133=) http://identifiers.org/clinvar/340018 ^@ NM_020639.2(RIPK4):c.1587G>A (p.Ser529=) http://identifiers.org/clinvar/393187 ^@ NM_014000.2(VCL):c.2069C>A (p.Ala690Asp) http://identifiers.org/clinvar/389409 ^@ NM_022445.3(TPK1):c.355-4T>G http://identifiers.org/clinvar/392198 ^@ NM_203447.3(DOCK8):c.3603C>G (p.Arg1201=) http://identifiers.org/clinvar/379272 ^@ NM_000280.4(PAX6):c.1184-2A>G http://identifiers.org/clinvar/379472 ^@ NM_000127.2(EXT1):c.852T>A (p.Tyr284Ter) http://identifiers.org/clinvar/385310 ^@ NM_004329.2(BMPR1A):c.474T>C (p.Ile158=) http://identifiers.org/clinvar/390009 ^@ NM_015214.2(DDHD2):c.*28C>T http://identifiers.org/clinvar/385260 ^@ NM_014391.2(ANKRD1):c.850-7T>G http://identifiers.org/clinvar/377523 ^@ NM_000051.3(ATM):c.8268+14C>T http://identifiers.org/clinvar/380223 ^@ NM_006231.3(POLE):c.2469-15G>A http://identifiers.org/clinvar/389159 ^@ NM_000035.3(ALDOB):c.488C>T (p.Ala163Val) http://identifiers.org/clinvar/391748 ^@ NM_020297.3(ABCC9):c.3246-10T>C http://identifiers.org/clinvar/382166 ^@ NM_000719.6(CACNA1C):c.5444+610G>A http://identifiers.org/clinvar/385360 ^@ NM_001130438.2(SPTAN1):c.4437C>T (p.Ser1479=) http://identifiers.org/clinvar/388809 ^@ NM_138732.2(NRXN2):c.3465C>A (p.Ile1155=) http://identifiers.org/clinvar/378922 ^@ NM_000218.2(KCNQ1):c.802A>G (p.Ile268Val) http://identifiers.org/clinvar/391498 ^@ NM_000552.4(VWF):c.1483G>A (p.Gly495Arg) http://identifiers.org/clinvar/389709 ^@ NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=) http://identifiers.org/clinvar/389459 ^@ NM_006231.3(POLE):c.1926C>T (p.Pro642=) http://identifiers.org/clinvar/382016 ^@ NM_006231.3(POLE):c.6531+12C>T http://identifiers.org/clinvar/381765 ^@ NM_005249.4(FOXG1):c.240G>A (p.Pro80=) http://identifiers.org/clinvar/391248 ^@ NM_000161.2(GCH1):c.585A>C (p.Glu195Asp) http://identifiers.org/clinvar/382066 ^@ NM_005050.3(ABCD4):c.543-14T>C http://identifiers.org/clinvar/379973 ^@ NM_016417.2(GLRX5):c.-44A>C http://identifiers.org/clinvar/382217 ^@ NM_003384.2(VRK1):c.286+12A>G http://identifiers.org/clinvar/377623 ^@ NM_024537.3(CARS2):c.-40-8C>T http://identifiers.org/clinvar/378225 ^@ NM_032578.3(MYPN):c.2229G>C (p.Pro743=) http://identifiers.org/clinvar/379172 ^@ NM_007078.2(LDB3):c.646A>T (p.Met216Leu) http://identifiers.org/clinvar/378175 ^@ NM_139242.3(MTFMT):c.601G>A (p.Ala201Thr) http://identifiers.org/clinvar/383719 ^@ NM_015631.5(TCTN3):c.1425G>A (p.Arg475=) http://identifiers.org/clinvar/390059 ^@ NM_000051.3(ATM):c.7307+8G>C http://identifiers.org/clinvar/379122 ^@ NM_005188.3(CBL):c.2153+10C>T http://identifiers.org/clinvar/379322 ^@ NM_001376.4(DYNC1H1):c.13516-16C>T http://identifiers.org/clinvar/379572 ^@ NM_020366.3(RPGRIP1):c.930+3A>G http://identifiers.org/clinvar/389759 ^@ NM_002755.3(MAP2K1):c.438+8A>T http://identifiers.org/clinvar/377973 ^@ NM_002180.2(IGHMBP2):c.1418+11C>T http://identifiers.org/clinvar/393137 ^@ NM_003239.4(TGFB3):c.754G>A (p.Gly252Ser) http://identifiers.org/clinvar/383870 ^@ NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) http://identifiers.org/clinvar/389059 ^@ NM_000070.2(CAPN3):c.309+12C>T http://identifiers.org/clinvar/379522 ^@ NM_000138.4(FBN1):c.5225-13T>G http://identifiers.org/clinvar/377422 ^@ NM_000017.3(ACADS):c.814C>T (p.Arg272Cys) http://identifiers.org/clinvar/384020 ^@ NM_006231.3(POLE):c.424-20G>A http://identifiers.org/clinvar/47 ^@ NM_015910.5(WDPCP):c.164G>A (p.Arg55Lys) http://identifiers.org/clinvar/52 ^@ XPNPEP3, 4-BP DEL, 931AACA http://identifiers.org/clinvar/77 ^@ NM_000235.3(LIPA):c.599T>C (p.Leu200Pro) http://identifiers.org/clinvar/333 ^@ NF1, 5-BP DEL http://identifiers.org/clinvar/479 ^@ NM_000317.2(PTS):c.155A>G (p.Asn52Ser) http://identifiers.org/clinvar/557 ^@ NM_000140.3(FECH):c.1078_1137del http://identifiers.org/clinvar/843 ^@ NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter) http://identifiers.org/clinvar/920 ^@ CA2, 1-BP DEL, 207C http://identifiers.org/clinvar/944 ^@ NM_000404.3(GLB1):c.202C>T (p.Arg68Trp) http://identifiers.org/clinvar/1002 ^@ NM_152778.2(MFSD8):c.1286G>A (p.Gly429Asp) http://identifiers.org/clinvar/1011 ^@ NM_139241.3(FGD4):c.670C>T (p.Arg224Ter) http://identifiers.org/clinvar/1020 ^@ NM_001077525.2(MTMR14):c.1007G>A (p.Arg336Gln) http://identifiers.org/clinvar/2815 ^@ NM_025074.6(FRAS1):c.6963_6964dupGG (p.Val2322Glyfs) http://identifiers.org/clinvar/2860 ^@ NM_173076.2(ABCA12):c.5012delA (p.Asn1671Ilefs) http://identifiers.org/clinvar/2906 ^@ NM_176817.4(TAS2R38):c.886A>G (p.Ile296Val) http://identifiers.org/clinvar/2951 ^@ RAI1, 1-BP DEL, 3801C http://identifiers.org/clinvar/2998 ^@ NM_000226.3(KRT9):c.515A>C (p.Gln172Pro) http://identifiers.org/clinvar/3044 ^@ NM_000051.3(ATM):c.2250G>A (p.Lys750=) http://identifiers.org/clinvar/3091 ^@ NM_000487.5(ARSA):c.763G>A (p.Glu255Lys) http://identifiers.org/clinvar/3143 ^@ NM_000218.2(KCNQ1):c.418A>G (p.Ser140Gly) http://identifiers.org/clinvar/3191 ^@ DYM, 1-BP DEL, 1877A http://identifiers.org/clinvar/3238 ^@ NM_007171.3(POMT1):c.226G>A (p.Gly76Arg) http://identifiers.org/clinvar/3285 ^@ NM_000268.3(NF2):c.169C>T (p.Arg57Ter) http://identifiers.org/clinvar/10155 ^@ F8, 89-BP DEL, FS http://identifiers.org/clinvar/10245 ^@ NM_000132.3(F8):c.2149C>T (p.Arg717Trp) http://identifiers.org/clinvar/10290 ^@ NM_000132.3(F8):c.5622dupT (p.Leu1875Serfs) http://identifiers.org/clinvar/10335 ^@ F8, EX1-6DEL http://identifiers.org/clinvar/10383 ^@ NM_000402.4(G6PD):c.727G>T (p.Val243Leu) http://identifiers.org/clinvar/10432 ^@ NM_001097642.2(GJB1):c.514C>T (p.Pro172Ser) http://identifiers.org/clinvar/10480 ^@ NM_000032.4(ALAS2):c.-258C>G http://identifiers.org/clinvar/10526 ^@ NM_001169122.1(AFF2):c.-460_-458GCC(6_25) http://identifiers.org/clinvar/10571 ^@ NM_000133.3(F9):c.218A>T (p.Glu73Val) http://identifiers.org/clinvar/10616 ^@ NM_000133.3(F9):c.1180A>G (p.Met394Val) http://identifiers.org/clinvar/10661 ^@ F9, ALA-10VAL http://identifiers.org/clinvar/10707 ^@ NM_152424.3(AMER1):c.1057C>T (p.Arg353Ter) http://identifiers.org/clinvar/10752 ^@ GLA, 5-BP INS, NT954 http://identifiers.org/clinvar/10798 ^@ NM_015107.2(PHF8):c.631C>T (p.Arg211Ter) http://identifiers.org/clinvar/37534 ^@ NM_007294.3(BRCA1):c.3627dupA (p.Glu1210Argfs) http://identifiers.org/clinvar/37587 ^@ NM_007294.3(BRCA1):c.4388_4389ins7 http://identifiers.org/clinvar/37639 ^@ NM_007294.3(BRCA1):c.5122G>A (p.Ala1708Thr) http://identifiers.org/clinvar/37696 ^@ NM_007294.3(BRCA1):c.745A>T (p.Thr249Ser) http://identifiers.org/clinvar/37747 ^@ NM_000059.3(BRCA2):c.1574C>T (p.Thr525Ile) http://identifiers.org/clinvar/37800 ^@ NM_000059.3(BRCA2):c.2758C>A (p.Pro920Thr) http://identifiers.org/clinvar/37852 ^@ NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) http://identifiers.org/clinvar/37905 ^@ NM_000059.3(BRCA2):c.4470dupA (p.Leu1491Thrfs) http://identifiers.org/clinvar/37958 ^@ NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) http://identifiers.org/clinvar/38010 ^@ NM_000059.3(BRCA2):c.5945G>C (p.Ser1982Thr) http://identifiers.org/clinvar/38065 ^@ NM_000059.3(BRCA2):c.68-7dupT http://identifiers.org/clinvar/38115 ^@ NM_000059.3(BRCA2):c.7700A>T (p.Tyr2567Phe) http://identifiers.org/clinvar/38165 ^@ NM_000059.3(BRCA2):c.8488-8T>G http://identifiers.org/clinvar/38215 ^@ NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) http://identifiers.org/clinvar/51370 ^@ NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) http://identifiers.org/clinvar/51420 ^@ NM_000059.3(BRCA2):c.3195delT (p.Asn1066Ilefs) http://identifiers.org/clinvar/51472 ^@ NM_000059.3(BRCA2):c.3465_3466delTT (p.Ser1156Terfs) http://identifiers.org/clinvar/51523 ^@ NM_000059.3(BRCA2):c.3778_3779delTT (p.Leu1260Ilefs) http://identifiers.org/clinvar/52386 ^@ NM_000059.3(BRCA2):c.7681C>T (p.Gln2561Ter) http://identifiers.org/clinvar/52437 ^@ NM_000059.3(BRCA2):c.793+1G>A http://identifiers.org/clinvar/52487 ^@ NM_000059.3(BRCA2):c.8053dupA (p.Thr2685Asnfs) http://identifiers.org/clinvar/52537 ^@ NM_000059.3(BRCA2):c.8249_8251delAGA (p.Lys2750del) http://identifiers.org/clinvar/52588 ^@ NM_000059.3(BRCA2):c.8437_8439delGGA (p.Gly2813del) http://identifiers.org/clinvar/52639 ^@ NM_000059.3(BRCA2):c.8632+24A>G http://identifiers.org/clinvar/52690 ^@ NM_000059.3(BRCA2):c.8848_8851delAAGG (p.Lys2950Profs) http://identifiers.org/clinvar/52740 ^@ NM_000059.3(BRCA2):c.906delC (p.Ser303Leufs) http://identifiers.org/clinvar/52792 ^@ NM_000059.3(BRCA2):c.9257-1G>A http://identifiers.org/clinvar/52843 ^@ NM_000059.3(BRCA2):c.9463_9467delTTTCAinsGAATGATC (p.Phe3155_Ile3418delinsGlu) http://identifiers.org/clinvar/52893 ^@ NM_000059.3(BRCA2):c.9706A>G (p.Lys3236Glu) http://identifiers.org/clinvar/52943 ^@ NM_000218.2(KCNQ1):c.1048G>C (p.Gly350Arg) http://identifiers.org/clinvar/52993 ^@ NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) http://identifiers.org/clinvar/53043 ^@ NM_000218.2(KCNQ1):c.436G>A (p.Glu146Lys) http://identifiers.org/clinvar/53093 ^@ NM_000218.2(KCNQ1):c.743_744delGGinsTC (p.Trp248Phe) http://identifiers.org/clinvar/53144 ^@ NM_000218.2(KCNQ1):c.947G>A (p.Gly316Glu) http://identifiers.org/clinvar/53197 ^@ NM_000492.3(CFTR):c.1128dupA (p.Gln378Alafs) http://identifiers.org/clinvar/53249 ^@ NM_000492.3(CFTR):c.1407G>T (p.Met469Ile) http://identifiers.org/clinvar/53300 ^@ NM_000492.3(CFTR):c.1631G>T (p.Gly544Val) http://identifiers.org/clinvar/53350 ^@ NM_000492.3(CFTR):c.1704G>T (p.Leu568Phe) http://identifiers.org/clinvar/53400 ^@ NM_000492.3(CFTR):c.1829T>C (p.Leu610Ser) http://identifiers.org/clinvar/53452 ^@ NM_000492.3(CFTR):c.2203delA (p.Arg735Glyfs) http://identifiers.org/clinvar/53505 ^@ NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) http://identifiers.org/clinvar/53555 ^@ NM_000492.3(CFTR):c.274-1G>T http://identifiers.org/clinvar/53605 ^@ NM_000492.3(CFTR):c.293A>C (p.Gln98Pro) http://identifiers.org/clinvar/53657 ^@ NM_000492.3(CFTR):c.3139+1G>A http://identifiers.org/clinvar/54607 ^@ NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter) http://identifiers.org/clinvar/54657 ^@ NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) http://identifiers.org/clinvar/54707 ^@ NM_007294.3(BRCA1):c.2872_2876delTTCAG (p.Phe958Argfs) http://identifiers.org/clinvar/55010 ^@ NM_007294.3(BRCA1):c.37_40delAATG (p.Asn13Serfs) http://identifiers.org/clinvar/55060 ^@ NM_007294.3(BRCA1):c.3965A>T (p.Lys1322Ile) http://identifiers.org/clinvar/55111 ^@ NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) http://identifiers.org/clinvar/55162 ^@ NM_007294.3(BRCA1):c.4288C>T (p.Pro1430Ser) http://identifiers.org/clinvar/55213 ^@ NM_007294.3(BRCA1):c.4485-1G>A http://identifiers.org/clinvar/55263 ^@ NM_007294.3(BRCA1):c.4695dupA (p.Ser1566Ilefs) http://identifiers.org/clinvar/55314 ^@ NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu) http://identifiers.org/clinvar/55364 ^@ NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala) http://identifiers.org/clinvar/55414 ^@ NM_007294.3(BRCA1):c.5143A>C (p.Ser1715Arg) http://identifiers.org/clinvar/55464 ^@ NM_007294.3(BRCA1):c.5215G>T (p.Asp1739Tyr) http://identifiers.org/clinvar/55517 ^@ NM_007294.3(BRCA1):c.5310dupG (p.Pro1771Alafs) http://identifiers.org/clinvar/55567 ^@ NM_007294.3(BRCA1):c.5407-2A>G http://identifiers.org/clinvar/55617 ^@ NM_007294.3(BRCA1):c.5532_5533insG (p.Tyr1845Valfs) http://identifiers.org/clinvar/55669 ^@ NM_007294.3(BRCA1):c.692C>T (p.Thr231Met) http://identifiers.org/clinvar/55720 ^@ NM_007294.3(BRCA1):c.811G>A (p.Val271Met) http://identifiers.org/clinvar/55771 ^@ NM_007294.3(BRCA1):c.981A>G (p.Thr327=) http://identifiers.org/clinvar/55849 ^@ NM_002609.3(PDGFRB):c.1978C>A (p.Pro660Thr) http://identifiers.org/clinvar/55922 ^@ NM_018490.3(LGR4):c.376C>T (p.Arg126Ter) http://identifiers.org/clinvar/55979 ^@ NM_000111.2(SLC26A3):c.1551_1554delCAAC (p.Asn518Serfs) http://identifiers.org/clinvar/56032 ^@ NM_000145.3(FSHR):c.1801C>G (p.Leu601Val) http://identifiers.org/clinvar/56083 ^@ NM_000170.2(GLDC):c.2574T>G (p.Tyr858Ter) http://identifiers.org/clinvar/56137 ^@ NM_000274.3(OAT):c.901-2A>G http://identifiers.org/clinvar/56188 ^@ NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) http://identifiers.org/clinvar/56238 ^@ NM_000481.3(AMT):c.674A>G (p.Tyr225Cys) http://identifiers.org/clinvar/56289 ^@ NM_001042432.1(CLN3):c.790+3A>C http://identifiers.org/clinvar/56341 ^@ NM_001081.3(CUBN):c.489G>A (p.Lys163=) http://identifiers.org/clinvar/56392 ^@ NM_002299.3(LCT):c.5387delA (p.Asp1796Alafs) http://identifiers.org/clinvar/56443 ^@ NM_004646.3(NPHS1):c.1583G>T (p.Cys528Phe) http://identifiers.org/clinvar/57318 ^@ GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 http://identifiers.org/clinvar/57372 ^@ GRCh38/hg38 7q11.22(chr7:72139800-72505698)x1 http://identifiers.org/clinvar/101389 ^@ NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg) http://identifiers.org/clinvar/101439 ^@ NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del) http://identifiers.org/clinvar/101489 ^@ NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser) http://identifiers.org/clinvar/102446 ^@ NM_001040147.2(SERPINB7):c.796C>T (p.Arg266Ter) http://identifiers.org/clinvar/102502 ^@ NM_000277.1(PAH):c.1065+32T>A http://identifiers.org/clinvar/102666 ^@ NM_000277.1(PAH):c.428A>G (p.Asp143Gly) http://identifiers.org/clinvar/102717 ^@ NM_000277.1(PAH):c.512G>C (p.Gly171Ala) http://identifiers.org/clinvar/102767 ^@ NM_000277.1(PAH):c.632delC (p.Pro211Hisfs) http://identifiers.org/clinvar/102818 ^@ NM_000277.1(PAH):c.740G>T (p.Gly247Val) http://identifiers.org/clinvar/102869 ^@ NM_000277.1(PAH):c.842+1G>T http://identifiers.org/clinvar/102920 ^@ NM_000277.1(PAH):c.970-6T>G http://identifiers.org/clinvar/102978 ^@ NC_000016.10:g.56989465C>G http://identifiers.org/clinvar/103028 ^@ NM_001033053.2(NLRP1):c.4069+205G>C http://identifiers.org/clinvar/103078 ^@ NM_001199138.1(NLRC4):c.2350+283T>C http://identifiers.org/clinvar/103128 ^@ NM_024618.3(NLRX1):c.*307C>A http://identifiers.org/clinvar/103178 ^@ NM_032206.4(NLRC5):c.3506+149T>C http://identifiers.org/clinvar/103228 ^@ NM_134444.4(NLRP4):c.583G>C (p.Glu195Gln) http://identifiers.org/clinvar/103278 ^@ NM_153447.4(NLRP5):c.1072T>C (p.Leu358=) http://identifiers.org/clinvar/103328 ^@ NM_176811.2(NLRP8):c.2705+138A>G http://identifiers.org/clinvar/110040 ^@ NM_032119.3(ADGRV1):c.4507G>A (p.Ala1503Thr) http://identifiers.org/clinvar/111252 ^@ NM_005534.3(IFNGR2):c.721+89T>C http://identifiers.org/clinvar/120188 ^@ NM_080600.2(MAG):c.1288T>G (p.Cys430Gly) http://identifiers.org/clinvar/120264 ^@ NM_000277.1(PAH):c.1199+70G>A http://identifiers.org/clinvar/120314 ^@ NM_024605.3(ARHGAP10):c.1468T>C (p.Ser490Pro) http://identifiers.org/clinvar/125472 ^@ NM_007294.3(BRCA1):c.-19-2_-19-1dupAG http://identifiers.org/clinvar/125550 ^@ NM_007294.3(BRCA1):c.2245G>C (p.Asp749His) http://identifiers.org/clinvar/125842 ^@ NM_007294.3(BRCA1):c.5406+68T>C http://identifiers.org/clinvar/125899 ^@ NM_007294.3(BRCA1):c.625_626ins20 (p.?) http://identifiers.org/clinvar/125965 ^@ NM_000059.3(BRCA2):c.-26G>A http://identifiers.org/clinvar/126027 ^@ NM_000059.3(BRCA2):c.3864_3866delTAA (p.Asn1288del) http://identifiers.org/clinvar/126099 ^@ NM_000059.3(BRCA2):c.6374_6375insA (p.Cys2126Leufs) http://identifiers.org/clinvar/126227 ^@ NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) http://identifiers.org/clinvar/160796 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/160847 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 http://identifiers.org/clinvar/160899 ^@ GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 http://identifiers.org/clinvar/160951 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/161002 ^@ GRCh38/hg38 10q26.3(chr10:133538868-133620674)x3 http://identifiers.org/clinvar/161052 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2220949-2920945)x3 http://identifiers.org/clinvar/161102 ^@ NM_030777.3(SLC2A10):c.1334G>A (p.Gly445Glu) http://identifiers.org/clinvar/161152 ^@ NM_152296.4(ATP1A3):c.2864C>A (p.Ala955Asp) http://identifiers.org/clinvar/161384 ^@ NM_001035.2(RYR2):c.13666G>A (p.Ala4556Thr) http://identifiers.org/clinvar/161234 ^@ NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) http://identifiers.org/clinvar/161451 ^@ NM_004826.3(ECEL1):c.2023G>A (p.Ala675Thr) http://identifiers.org/clinvar/161603 ^@ NM_002960.1(S100A3):c.25G>T (p.Val9Leu) http://identifiers.org/clinvar/161503 ^@ NM_001038.5(SCNN1A):c.1129A>G (p.Ile377Val) http://identifiers.org/clinvar/161653 ^@ NM_007002.3(ADRM1):c.653C>A (p.Pro218Gln) http://identifiers.org/clinvar/161553 ^@ NM_001184774.1(SEZ6L):c.1515-5G>A http://identifiers.org/clinvar/179911 ^@ NM_001035.2(RYR2):c.3225C>T (p.Ala1075=) http://identifiers.org/clinvar/179111 ^@ NM_004700.3(KCNQ4):c.459delC (p.Ala154Profs) http://identifiers.org/clinvar/178103 ^@ NM_144573.3(NEXN):c.1029G>A (p.Ala343=) http://identifiers.org/clinvar/178153 ^@ NM_133378.4(TTN):c.97070A>C (p.Glu32357Ala) http://identifiers.org/clinvar/179161 ^@ NM_133378.4(TTN):c.73807T>C (p.Cys24603Arg) http://identifiers.org/clinvar/180111 ^@ NM_001103.3(ACTN2):c.354C>T (p.Gly118=) http://identifiers.org/clinvar/178003 ^@ NM_001103.3(ACTN2):c.615+15C>T http://identifiers.org/clinvar/178203 ^@ NM_133378.4(TTN):c.52025C>T (p.Thr17342Ile) http://identifiers.org/clinvar/179461 ^@ NM_133378.4(TTN):c.89347G>A (p.Glu29783Lys) http://identifiers.org/clinvar/179311 ^@ NM_133378.4(TTN):c.75703delG (p.Val25235Serfs) http://identifiers.org/clinvar/178861 ^@ NM_133378.4(TTN):c.71418A>G (p.Glu23806=) http://identifiers.org/clinvar/179411 ^@ NM_001256850.1(TTN):c.44725+2delT http://identifiers.org/clinvar/179661 ^@ NM_133378.4(TTN):c.17650C>G (p.Arg5884Gly) http://identifiers.org/clinvar/179861 ^@ NM_001256850.1(TTN):c.18475+2T>A http://identifiers.org/clinvar/178253 ^@ NM_001256850.1(TTN):c.16855A>G (p.Ile5619Val) http://identifiers.org/clinvar/179811 ^@ NM_133378.4(TTN):c.35246G>A (p.Arg11749Gln) http://identifiers.org/clinvar/178911 ^@ NM_133378.4(TTN):c.19806C>T (p.Phe6602=) http://identifiers.org/clinvar/178503 ^@ NM_194248.2(OTOF):c.5374C>T (p.Arg1792Cys) http://identifiers.org/clinvar/177952 ^@ NM_000038.5(APC):c.4255delA (p.Ser1419Alafs) http://identifiers.org/clinvar/163072 ^@ NM_005219.4(DIAPH1):c.2525A>C (p.Gln842Pro) http://identifiers.org/clinvar/165154 ^@ NM_198056.2(SCN5A):c.1659G>A (p.Glu553=) http://identifiers.org/clinvar/164730 ^@ NM_016599.4(MYOZ2):c.689G>A (p.Arg230Gln) http://identifiers.org/clinvar/163270 ^@ NM_004415.3(DSP):c.4105G>A (p.Glu1369Lys) http://identifiers.org/clinvar/178961 ^@ NM_004415.3(DSP):c.8152C>A (p.Leu2718Ile) http://identifiers.org/clinvar/178810 ^@ NM_016616.4(NME8):c.528+11T>C http://identifiers.org/clinvar/163663 ^@ NM_000601.5(HGF):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/163122 ^@ NM_001277115.1(DNAH11):c.11186A>T (p.Tyr3729Phe) http://identifiers.org/clinvar/177649 ^@ NM_005228.4(EGFR):c.2240_2254delTAAGAGAAGCAACAT (p.Leu747_Thr751del) http://identifiers.org/clinvar/178353 ^@ NM_032119.3(ADGRV1):c.207+3A>G http://identifiers.org/clinvar/177750 ^@ NM_032119.3(ADGRV1):c.3279G= (p.Leu1093=) http://identifiers.org/clinvar/163574 ^@ NM_032119.3(ADGRV1):c.5282C>G (p.Ser1761Cys) http://identifiers.org/clinvar/198718 ^@ NM_000350.2(ABCA4):c.870G>A (p.Arg290=) http://identifiers.org/clinvar/198772 ^@ NM_001360.2(DHCR7):c.906C>T (p.Phe302=) http://identifiers.org/clinvar/199191 ^@ NM_153717.2(EVC):c.1127C>T (p.Ala376Val) http://identifiers.org/clinvar/199246 ^@ NM_182914.2(SYNE2):c.17631_17635dupGCACG (p.Val5879Glyfs) http://identifiers.org/clinvar/200940 ^@ NM_170707.3(LMNA):c.737A>G (p.Gln246Arg) http://identifiers.org/clinvar/201244 ^@ NM_001035.2(RYR2):c.4229T>C (p.Leu1410Pro) http://identifiers.org/clinvar/201298 ^@ NM_001035.2(RYR2):c.9911A>G (p.Gln3304Arg) http://identifiers.org/clinvar/201188 ^@ NM_001035.2(RYR2):c.11814C>A (p.Ser3938Arg) http://identifiers.org/clinvar/201355 ^@ NM_001035.2(RYR2):c.14251A>C (p.Lys4751Gln) http://identifiers.org/clinvar/199749 ^@ NM_000090.3(COL3A1):c.1205_1206delGCinsAA (p.Gly402Glu) http://identifiers.org/clinvar/199695 ^@ NM_000090.3(COL3A1):c.1424C>T (p.Ala475Val) http://identifiers.org/clinvar/201525 ^@ NM_198056.2(SCN5A):c.5026A>G (p.Met1676Val) http://identifiers.org/clinvar/201466 ^@ NM_198056.2(SCN5A):c.1939G>T (p.Ala647Ser) http://identifiers.org/clinvar/201412 ^@ NM_198056.2(SCN5A):c.268C>A (p.Gln90Lys) http://identifiers.org/clinvar/199915 ^@ NM_004415.3(DSP):c.273delT (p.Glu92Asnfs) http://identifiers.org/clinvar/199856 ^@ NM_004415.3(DSP):c.1141-2A>G http://identifiers.org/clinvar/200473 ^@ NM_000238.3(KCNH2):c.2606C>T (p.Pro869Leu) http://identifiers.org/clinvar/200306 ^@ NM_000238.3(KCNH2):c.868G>C (p.Ala290Pro) http://identifiers.org/clinvar/200616 ^@ NM_000238.3(KCNH2):c.850_868del19 (p.Ser284Profs) http://identifiers.org/clinvar/200723 ^@ NM_000238.3(KCNH2):c.758C>G (p.Ala253Gly) http://identifiers.org/clinvar/200879 ^@ NM_000218.2(KCNQ1):c.343G>A (p.Glu115Lys) http://identifiers.org/clinvar/200825 ^@ NM_000218.2(KCNQ1):c.922-3C>A http://identifiers.org/clinvar/201016 ^@ NM_130799.2(MEN1):c.1324C>T (p.Gln442Ter) http://identifiers.org/clinvar/200197 ^@ NM_000138.4(FBN1):c.6932G>A (p.Arg2311His) http://identifiers.org/clinvar/200083 ^@ NM_000138.4(FBN1):c.6418G>A (p.Gly2140Arg) http://identifiers.org/clinvar/200028 ^@ NM_000138.4(FBN1):c.3964+1G>A http://identifiers.org/clinvar/199973 ^@ NM_000138.4(FBN1):c.1589A>G (p.Asp530Gly) http://identifiers.org/clinvar/200143 ^@ NM_000138.4(FBN1):c.305G>T (p.Cys102Phe) http://identifiers.org/clinvar/201068 ^@ NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) http://identifiers.org/clinvar/201121 ^@ NM_002474.2(MYH11):c.632C>T (p.Thr211Met) http://identifiers.org/clinvar/199804 ^@ NM_001943.4(DSG2):c.889G>A (p.Asp297Asn) http://identifiers.org/clinvar/202185 ^@ NM_000456.2(SUOX):c.332T>A (p.Val111Asp) http://identifiers.org/clinvar/202235 ^@ NC_000010.10:g.(?_138878)_(5160945_?)dup http://identifiers.org/clinvar/203079 ^@ NM_001256850.1(TTN):c.99430G>C (p.Glu33144Gln) http://identifiers.org/clinvar/203029 ^@ NM_001256850.1(TTN):c.92522T>C (p.Ile30841Thr) http://identifiers.org/clinvar/202527 ^@ NM_001256850.1(TTN):c.91302T>A (p.Val30434=) http://identifiers.org/clinvar/202979 ^@ NM_001256850.1(TTN):c.86443G>A (p.Gly28815Ser) http://identifiers.org/clinvar/202929 ^@ NM_001256850.1(TTN):c.80192G>A (p.Gly26731Glu) http://identifiers.org/clinvar/202414 ^@ NM_001256850.1(TTN):c.77041A>T (p.Arg25681Ter) http://identifiers.org/clinvar/202879 ^@ NM_001256850.1(TTN):c.72433_72434delGCinsAT (p.Ala24145Ile) http://identifiers.org/clinvar/202468 ^@ NM_001256850.1(TTN):c.71234_71235delGAinsAGGG (p.Gly23745Glufs) http://identifiers.org/clinvar/202829 ^@ NM_001256850.1(TTN):c.65894T>C (p.Met21965Thr) http://identifiers.org/clinvar/231707 ^@ NM_000038.5(APC):c.7883A>G (p.Gln2628Arg) http://identifiers.org/clinvar/234100 ^@ NM_005732.3(RAD50):c.1821T>C (p.Asn607=) http://identifiers.org/clinvar/231257 ^@ NM_000535.6(PMS2):c.430A>G (p.Ile144Val) http://identifiers.org/clinvar/231307 ^@ NM_002485.4(NBN):c.1056A>G (p.Leu352=) http://identifiers.org/clinvar/231507 ^@ NM_000051.3(ATM):c.1159A>G (p.Lys387Glu) http://identifiers.org/clinvar/231957 ^@ NM_000051.3(ATM):c.2539A>T (p.Met847Leu) http://identifiers.org/clinvar/234050 ^@ NM_000051.3(ATM):c.7930G>A (p.Gly2644Ser) http://identifiers.org/clinvar/231107 ^@ NM_005591.3(MRE11):c.390C>T (p.Asp130=) http://identifiers.org/clinvar/231157 ^@ NM_000059.3(BRCA2):c.928T>G (p.Leu310Val) http://identifiers.org/clinvar/231607 ^@ NM_000059.3(BRCA2):c.4747A>G (p.Ile1583Val) http://identifiers.org/clinvar/231757 ^@ NM_000059.3(BRCA2):c.9806G>C (p.Arg3269Thr) http://identifiers.org/clinvar/231807 ^@ NM_024675.3(PALB2):c.3027delT (p.Glu1010Argfs) http://identifiers.org/clinvar/233749 ^@ NM_001042492.2(NF1):c.734G>T (p.Cys245Phe) http://identifiers.org/clinvar/233597 ^@ NM_001042492.2(NF1):c.1974C>A (p.Leu658=) http://identifiers.org/clinvar/231657 ^@ NM_001042492.2(NF1):c.1996T>C (p.Ser666Pro) http://identifiers.org/clinvar/231207 ^@ NM_001042492.2(NF1):c.4047C>T (p.Ala1349=) http://identifiers.org/clinvar/231907 ^@ NM_001042492.2(NF1):c.6922-3C>T http://identifiers.org/clinvar/231357 ^@ NM_002878.3(RAD51D):c.94G>A (p.Val32Ile) http://identifiers.org/clinvar/234150 ^@ NM_007294.3(BRCA1):c.2404G>T (p.Val802Leu) http://identifiers.org/clinvar/232057 ^@ NM_007294.3(BRCA1):c.1853G>A (p.Arg618Lys) http://identifiers.org/clinvar/232157 ^@ NM_032043.2(BRIP1):c.3224C>T (p.Ser1075Leu) http://identifiers.org/clinvar/232007 ^@ NM_032043.2(BRIP1):c.903delG (p.Leu301Phefs) http://identifiers.org/clinvar/233900 ^@ NM_005359.5(SMAD4):c.1349_1376dup28 (p.Ala460Glyfs) http://identifiers.org/clinvar/231857 ^@ NM_007194.3(CHEK2):c.1048C>G (p.Pro350Ala) http://identifiers.org/clinvar/234974 ^@ NM_005691.3(ABCC9):c.826G>A (p.Ala276Thr) http://identifiers.org/clinvar/235810 ^@ NM_000495.4(COL4A5):c.1339+1G>A http://identifiers.org/clinvar/242400 ^@ NM_001567.3(INPPL1):c.35dupG (p.Ala13Argfs) http://identifiers.org/clinvar/235863 ^@ NM_003719.3(PDE8B):c.304G>T (p.Glu102Ter) http://identifiers.org/clinvar/236046 ^@ NM_001199107.1(TBC1D24):c.194G>T (p.Arg65Leu) http://identifiers.org/clinvar/236146 ^@ NM_000350.2(ABCA4):c.6283-3_6283-2delinsAG http://identifiers.org/clinvar/236096 ^@ NM_000350.2(ABCA4):c.2894A>G (p.Asn965Ser) http://identifiers.org/clinvar/236284 ^@ NM_000059.3(BRCA2):c.7940_7941insC (p.Ser2648Lysfs) http://identifiers.org/clinvar/236335 ^@ NC_000016.8:g.6928412_7091334del162923 http://identifiers.org/clinvar/236385 ^@ NC_000016.9:g.77961259_78463424dup502166 http://identifiers.org/clinvar/236536 ^@ NM_206933.2(USH2A):c.11549-1G>A http://identifiers.org/clinvar/236486 ^@ NM_000260.3(MYO7A):c.1135G>A (p.Gly379Arg) http://identifiers.org/clinvar/236436 ^@ NM_000180.3(GUCY2D):c.380C>T (p.Pro127Leu) http://identifiers.org/clinvar/239436 ^@ NM_003000.2(SDHB):c.642+3G>A http://identifiers.org/clinvar/241426 ^@ NM_022114.3(PRDM16):c.2452G>A (p.Gly818Ser) http://identifiers.org/clinvar/242026 ^@ NM_174936.3(PCSK9):c.1173C>T (p.His391=) http://identifiers.org/clinvar/238832 ^@ NM_001267550.2(TTN):c.71132T>C (p.Ile23711Thr) http://identifiers.org/clinvar/238782 ^@ NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala) http://identifiers.org/clinvar/238732 ^@ NM_001267550.2(TTN):c.28034C>T (p.Pro9345Leu) http://identifiers.org/clinvar/237743 ^@ NM_000384.2(APOB):c.2981C>T (p.Pro994Leu) http://identifiers.org/clinvar/237843 ^@ NM_000465.3(BARD1):c.737C>A (p.Pro246Gln) http://identifiers.org/clinvar/241976 ^@ NM_152383.4(DIS3L2):c.2436G>A (p.Lys812=) http://identifiers.org/clinvar/239836 ^@ NM_004304.4(ALK):c.4407G>A (p.Pro1469=) http://identifiers.org/clinvar/239033 ^@ NM_001743.5(CALM2):c.243C>T (p.Asp81=) http://identifiers.org/clinvar/239133 ^@ NM_002354.2(EPCAM):c.558T>C (p.Tyr186=) http://identifiers.org/clinvar/237392 ^@ NM_000251.2(MSH2):c.2699C>G (p.Ser900Ter) http://identifiers.org/clinvar/237141 ^@ NM_000179.2(MSH6):c.1570_1571insC (p.Tyr524Serfs) http://identifiers.org/clinvar/237191 ^@ NM_000179.2(MSH6):c.3438+8dupA http://identifiers.org/clinvar/241226 ^@ NM_017849.3(TMEM127):c.53C>T (p.Pro18Leu) http://identifiers.org/clinvar/242176 ^@ NM_181426.1(CCDC39):c.830_831delCA (p.Thr277Argfs) http://identifiers.org/clinvar/237342 ^@ NM_000249.3(MLH1):c.589-9G>A http://identifiers.org/clinvar/239536 ^@ NM_003280.2(TNNC1):c.72C>T (p.Phe24=) http://identifiers.org/clinvar/239586 ^@ NM_003924.3(PHOX2B):c.135C>T (p.Asn45=) http://identifiers.org/clinvar/237242 ^@ NM_000222.2(KIT):c.1383A>G (p.Thr461=) http://identifiers.org/clinvar/236586 ^@ NM_000038.5(APC):c.3196delA (p.Arg1066Aspfs) http://identifiers.org/clinvar/236636 ^@ NM_000038.5(APC):c.6809C>T (p.Ser2270Phe) http://identifiers.org/clinvar/239083 ^@ NM_001999.3(FBN2):c.3414T>C (p.Phe1138=) http://identifiers.org/clinvar/238982 ^@ NM_001369.2(DNAH5):c.6444+4T>C http://identifiers.org/clinvar/239636 ^@ NM_004168.3(SDHA):c.109G>A (p.Val37Ile) http://identifiers.org/clinvar/239686 ^@ NM_004168.3(SDHA):c.919A>G (p.Ile307Val) http://identifiers.org/clinvar/240926 ^@ NM_014845.5(FIG4):c.2115C>T (p.Thr705=) http://identifiers.org/clinvar/237292 ^@ NM_000238.3(KCNH2):c.1528C>T (p.Leu510=) http://identifiers.org/clinvar/238932 ^@ NM_001277115.1(DNAH11):c.8253A>G (p.Ile2751Met) http://identifiers.org/clinvar/260036 ^@ NM_006790.2(MYOT):c.571G>C (p.Gly191Arg) http://identifiers.org/clinvar/255407 ^@ NM_000163.4(GHR):c.785-22G>A http://identifiers.org/clinvar/256296 ^@ NM_000500.7(CYP21A2):c.652-4G>A http://identifiers.org/clinvar/261125 ^@ NM_019105.6(TNXB):c.1532G>A (p.Arg511His) http://identifiers.org/clinvar/257096 ^@ NM_001024630.3(RUNX2):c.423+39G>C http://identifiers.org/clinvar/258985 ^@ NM_003221.3(TFAP2B):c.540+28_540+31delCAAA http://identifiers.org/clinvar/261025 ^@ NM_018368.3(LMBRD1):c.763-50T>C http://identifiers.org/clinvar/259335 ^@ NM_004370.5(COL12A1):c.4827+19T>C http://identifiers.org/clinvar/259385 ^@ NM_004415.3(DSP):c.5913G>T (p.Leu1971=) http://identifiers.org/clinvar/257896 ^@ NM_001277115.1(DNAH11):c.4464T>C (p.Ser1488=) http://identifiers.org/clinvar/257846 ^@ NM_001277115.1(DNAH11):c.10692-16G>T http://identifiers.org/clinvar/260925 ^@ NM_017802.3(DNAAF5):c.1269C>T (p.Ser423=) http://identifiers.org/clinvar/254957 ^@ NM_000089.3(COL1A2):c.936+14C>T http://identifiers.org/clinvar/256646 ^@ NM_000550.2(TYRP1):c.708+19A>G http://identifiers.org/clinvar/260136 ^@ NM_007171.3(POMT1):c.*41T>C http://identifiers.org/clinvar/255057 ^@ NM_000093.4(COL5A1):c.1827+45G>A http://identifiers.org/clinvar/255457 ^@ NM_000170.2(GLDC):c.319A>G (p.Met107Val) http://identifiers.org/clinvar/257346 ^@ NM_001080449.2(DNA2):c.507C>A (p.Ala169=) http://identifiers.org/clinvar/256346 ^@ NM_000518.4(HBB):c.316-146T>C http://identifiers.org/clinvar/259836 ^@ NM_005609.3(PYGM):c.425-22C>T http://identifiers.org/clinvar/259285 ^@ NM_004316.3(ASCL1):c.178_186delCAGCAGCAG (p.Gln60_Gln62del) http://identifiers.org/clinvar/257396 ^@ NM_001082538.2(TCTN1):c.-19C>A http://identifiers.org/clinvar/256596 ^@ NM_000545.6(HNF1A):c.1502-14T>C http://identifiers.org/clinvar/257146 ^@ NM_001025356.2(ANO6):c.382G>A (p.Ala128Thr) http://identifiers.org/clinvar/254707 ^@ NM_000020.2(ACVRL1):c.1246+19C>T http://identifiers.org/clinvar/256696 ^@ NM_000552.4(VWF):c.7239T>C (p.Thr2413=) http://identifiers.org/clinvar/259185 ^@ NM_003850.2(SUCLA2):c.660C>T (p.Leu220=) http://identifiers.org/clinvar/256096 ^@ NM_000428.2(LTBP2):c.1287G>A (p.Leu429=) http://identifiers.org/clinvar/254857 ^@ NM_000070.2(CAPN3):c.1194-26C>G http://identifiers.org/clinvar/255157 ^@ NM_000119.2(EPB42):c.923-4A>G http://identifiers.org/clinvar/255307 ^@ NM_000138.4(FBN1):c.6616+7C>G http://identifiers.org/clinvar/332531 ^@ NM_003659.3(AGPS):c.*467_*475delCCATTAAGG http://identifiers.org/clinvar/332931 ^@ NM_133378.4(TTN):c.12099C>T (p.Pro4033=) http://identifiers.org/clinvar/332681 ^@ NM_133378.4(TTN):c.98589T>C (p.Val32863=) http://identifiers.org/clinvar/332731 ^@ NM_133378.4(TTN):c.83669G>A (p.Ser27890Asn) http://identifiers.org/clinvar/335932 ^@ NM_000104.3(CYP1B1):c.*1062G>T http://identifiers.org/clinvar/335982 ^@ NM_005633.3(SOS1):c.*2439delA http://identifiers.org/clinvar/336332 ^@ NM_139279.5(MCFD2):c.*2848C>T http://identifiers.org/clinvar/336439 ^@ NM_000179.2(MSH6):c.339C>T (p.His113=) http://identifiers.org/clinvar/335632 ^@ NM_001029883.2(C2orf71):c.*283G>A http://identifiers.org/clinvar/335832 ^@ NM_014946.3(SPAST):c.828T>C (p.Ser276=) http://identifiers.org/clinvar/335882 ^@ NM_014946.3(SPAST):c.*2433A>G http://identifiers.org/clinvar/336132 ^@ NM_133259.3(LRPPRC):c.*667C>T http://identifiers.org/clinvar/336182 ^@ NM_000341.3(SLC3A1):c.-65C>T http://identifiers.org/clinvar/337039 ^@ NM_015120.4(ALMS1):c.*267T>A http://identifiers.org/clinvar/337089 ^@ NM_004082.4(DCTN1):c.1140T>G (p.Leu380=) http://identifiers.org/clinvar/336389 ^@ NM_139279.5(MCFD2):c.-90delC http://identifiers.org/clinvar/337289 ^@ NM_198843.2(SFTPB):c.*1074C>T http://identifiers.org/clinvar/336789 ^@ NM_002056.3(GFPT1):c.*5432G>A http://identifiers.org/clinvar/337139 ^@ NM_013247.4(HTRA2):c.*94C>T http://identifiers.org/clinvar/335682 ^@ NM_004304.4(ALK):c.*61_*64dupCAAT http://identifiers.org/clinvar/343658 ^@ NM_000935.2(PLOD2):c.-322G>T http://identifiers.org/clinvar/342808 ^@ NM_000388.3(CASR):c.*103A>C http://identifiers.org/clinvar/335532 ^@ NM_015636.3(EIF2B4):c.1389A>G (p.Gln463=) http://identifiers.org/clinvar/343008 ^@ NM_000373.3(UMPS):c.*3447T>C http://identifiers.org/clinvar/343958 ^@ NM_020800.2(IFT80):c.*540A>G http://identifiers.org/clinvar/335582 ^@ NM_001029883.2(C2orf71):c.*2558C>T http://identifiers.org/clinvar/343158 ^@ NM_004637.5(RAB7A):c.277C>T (p.Pro93Ser) http://identifiers.org/clinvar/336082 ^@ NM_022437.2(ABCG8):c.1489-15G>A http://identifiers.org/clinvar/335732 ^@ NM_004304.4(ALK):c.-826C>A http://identifiers.org/clinvar/335782 ^@ NM_000379.3(XDH):c.1751A>C (p.Asp584Ala) http://identifiers.org/clinvar/354424 ^@ NM_004385.4(VCAN):c.5190A>G (p.Gly1730=) http://identifiers.org/clinvar/354524 ^@ NM_002890.2(RASA1):c.2487+11A>C http://identifiers.org/clinvar/354824 ^@ NM_007214.4(SEC63):c.*3432dupC http://identifiers.org/clinvar/354874 ^@ NM_007214.4(SEC63):c.*1230T>C http://identifiers.org/clinvar/351337 ^@ NM_001018077.1(NR3C1):c.*1589A>G http://identifiers.org/clinvar/355614 ^@ NM_003764.3(STX11):c.*1046C>T http://identifiers.org/clinvar/351387 ^@ NM_054027.4(ANKH):c.*6386G>C http://identifiers.org/clinvar/355764 ^@ NM_203395.2(IYD):c.*4439T>C http://identifiers.org/clinvar/351587 ^@ NM_024577.3(SH3TC2):c.*20463T>C http://identifiers.org/clinvar/355864 ^@ NM_033071.3(SYNE1):c.15328C>T (p.Leu5110=) http://identifiers.org/clinvar/355914 ^@ NM_033071.3(SYNE1):c.7196T>C (p.Val2399Ala) http://identifiers.org/clinvar/351637 ^@ NM_024577.3(SH3TC2):c.*16507C>T http://identifiers.org/clinvar/356014 ^@ NM_004562.2(PRKN):c.1364G>A (p.Arg455His) http://identifiers.org/clinvar/351987 ^@ NM_000440.2(PDE6A):c.1729-4C>T http://identifiers.org/clinvar/356114 ^@ NM_000367.4(TPMT):c.474T= (p.Ile158=) http://identifiers.org/clinvar/351887 ^@ NM_024577.3(SH3TC2):c.*341A>G http://identifiers.org/clinvar/356314 ^@ NM_006929.4(SKIV2L):c.384T>C (p.Ala128=) http://identifiers.org/clinvar/352085 ^@ NM_000112.3(SLC26A2):c.*4397A>G http://identifiers.org/clinvar/359713 ^@ NM_032581.3(FAM126A):c.*4278_*4279insGT http://identifiers.org/clinvar/359813 ^@ NM_001031710.2(KLHL7):c.*865C>T http://identifiers.org/clinvar/352135 ^@ NM_005211.3(CSF1R):c.2258G>A (p.Arg753Gln) http://identifiers.org/clinvar/356464 ^@ NM_003322.5(TULP1):c.*268C>A http://identifiers.org/clinvar/359913 ^@ NM_018947.5(CYCS):c.*2186G>A http://identifiers.org/clinvar/360213 ^@ NM_000168.5(GLI3):c.*249A>T http://identifiers.org/clinvar/360313 ^@ NM_014855.2(AP5Z1):c.584A>G (p.His195Arg) http://identifiers.org/clinvar/360513 ^@ NM_004577.3(PSPH):c.117C>T (p.Gly39=) http://identifiers.org/clinvar/360663 ^@ NM_000501.3(ELN):c.*95C>T http://identifiers.org/clinvar/360713 ^@ NM_000941.2(POR):c.1564C>T (p.Arg522Cys) http://identifiers.org/clinvar/361453 ^@ NM_001385.2(DPYS):c.603+5G>A http://identifiers.org/clinvar/361612 ^@ NM_014112.4(TRPS1):c.2662G>A (p.Glu888Lys) http://identifiers.org/clinvar/361662 ^@ NM_000127.2(EXT1):c.148A>G (p.Ser50Gly) http://identifiers.org/clinvar/353774 ^@ NM_002203.3(ITGA2):c.2780A>G (p.Asn927Ser) http://identifiers.org/clinvar/306297 ^@ NM_020376.3(PNPLA2):c.591C>T (p.Asp197=) http://identifiers.org/clinvar/306348 ^@ NM_012193.3(FZD4):c.*3937_*3940dupTTTG http://identifiers.org/clinvar/299904 ^@ NM_020975.4(RET):c.*175C>G http://identifiers.org/clinvar/299954 ^@ NM_002900.2(RBP3):c.3156C>T (p.Asp1052=) http://identifiers.org/clinvar/300304 ^@ NM_018055.4(NODAL):c.393G>C (p.Arg131=) http://identifiers.org/clinvar/364501 ^@ NM_001079802.1(FKTN):c.*1511A>G http://identifiers.org/clinvar/364551 ^@ NM_003640.4(IKBKAP):c.3876T>G (p.Thr1292=) http://identifiers.org/clinvar/307198 ^@ NM_001681.3(ATP2A2):c.*764G>A http://identifiers.org/clinvar/364601 ^@ NM_005592.3(MUSK):c.312T>C (p.Gly104=) http://identifiers.org/clinvar/364751 ^@ NM_018249.5(CDK5RAP2):c.5061C>G (p.Leu1687=) http://identifiers.org/clinvar/300754 ^@ NM_002658.4(PLAU):c.706A>G (p.Ile236Val) http://identifiers.org/clinvar/300804 ^@ NM_014000.2(VCL):c.*652T>C http://identifiers.org/clinvar/300854 ^@ NM_012330.3(KAT6B):c.109A>G (p.Ser37Gly) http://identifiers.org/clinvar/364651 ^@ NM_000031.5(ALAD):c.397+12C>T http://identifiers.org/clinvar/365001 ^@ NM_002316.3(LMX1B):c.*4570A>G http://identifiers.org/clinvar/364851 ^@ NM_000550.2(TYRP1):c.70G>A (p.Ala24Thr) http://identifiers.org/clinvar/364901 ^@ NM_002316.3(LMX1B):c.*280G>A http://identifiers.org/clinvar/365151 ^@ NM_001130438.2(SPTAN1):c.-73C>T http://identifiers.org/clinvar/308087 ^@ NM_004985.4(KRAS):c.*2371C>T http://identifiers.org/clinvar/364951 ^@ NM_002316.3(LMX1B):c.*2160C>T http://identifiers.org/clinvar/308187 ^@ NM_000719.6(CACNA1C):c.*1558T>A http://identifiers.org/clinvar/365301 ^@ NM_015046.5(SETX):c.*2639T>C http://identifiers.org/clinvar/365401 ^@ NM_000368.4(TSC1):c.*4159G>T http://identifiers.org/clinvar/365101 ^@ NM_000118.3(ENG):c.-158C>T http://identifiers.org/clinvar/365201 ^@ NM_014908.3(DOLK):c.-149G>A http://identifiers.org/clinvar/298365 ^@ NM_004376.5(COX15):c.*4435A>G http://identifiers.org/clinvar/298465 ^@ NM_000392.4(ABCC2):c.3492C>T (p.Ser1164=) http://identifiers.org/clinvar/366141 ^@ NM_144966.5(FREM1):c.2727C>T (p.Ile909=) http://identifiers.org/clinvar/366541 ^@ NM_203447.3(DOCK8):c.494C>T (p.Ser165Leu) http://identifiers.org/clinvar/366191 ^@ NM_144966.5(FREM1):c.-766A>C http://identifiers.org/clinvar/302593 ^@ NM_174934.3(SCN4B):c.*2785C>T http://identifiers.org/clinvar/366291 ^@ NM_002451.3(MTAP):c.*2255A>G http://identifiers.org/clinvar/366341 ^@ NM_003070.4(SMARCA2):c.*698T>C http://identifiers.org/clinvar/366741 ^@ NM_004629.1(FANCG):c.-348A>G http://identifiers.org/clinvar/366841 ^@ NM_005476.5(GNE):c.*74G>A http://identifiers.org/clinvar/302843 ^@ NM_005188.3(CBL):c.*4038A>G http://identifiers.org/clinvar/306698 ^@ NM_018979.3(WNK1):c.*1744C>T http://identifiers.org/clinvar/366591 ^@ NM_175073.2(APTX):c.740G>A (p.Arg247Gln) http://identifiers.org/clinvar/340719 ^@ NM_014339.6(IL17RA):c.*4849C>G http://identifiers.org/clinvar/312891 ^@ NM_000257.3(MYH7):c.5208G>C (p.Gln1736His) http://identifiers.org/clinvar/312941 ^@ NM_006177.3(NRL):c.441G>A (p.Arg147=) http://identifiers.org/clinvar/314780 ^@ NM_018418.4(SPATA7):c.372+11A>G http://identifiers.org/clinvar/314830 ^@ NM_018319.3(TDP1):c.885-15T>C http://identifiers.org/clinvar/341119 ^@ NM_000268.3(NF2):c.*1737C>A http://identifiers.org/clinvar/341169 ^@ NM_000268.3(NF2):c.*3319delG http://identifiers.org/clinvar/313141 ^@ NM_001079668.2(NKX2-1):c.925G>T (p.Ala309Ser) http://identifiers.org/clinvar/322765 ^@ NM_145068.3(TRPV3):c.1622T>C (p.Leu541Ser) http://identifiers.org/clinvar/341469 ^@ NM_002473.5(MYH9):c.*800T>C http://identifiers.org/clinvar/323015 ^@ NM_001004334.3(GPR179):c.1837T>A (p.Phe613Ile) http://identifiers.org/clinvar/323115 ^@ NM_000226.3(KRT9):c.1594G>A (p.Gly532Ser) http://identifiers.org/clinvar/323165 ^@ NM_002230.2(JUP):c.1912A>C (p.Asn638His) http://identifiers.org/clinvar/341969 ^@ NM_006953.3(UPK3A):c.90C>T (p.Phe30=) http://identifiers.org/clinvar/323365 ^@ NM_000151.3(G6PC):c.*24A>C http://identifiers.org/clinvar/367770 ^@ NM_002294.2(LAMP2):c.*1589A>G http://identifiers.org/clinvar/314130 ^@ NM_031427.3(DNAL1):c.*6272T>C http://identifiers.org/clinvar/367970 ^@ NM_001011658.3(TRAPPC2):c.*1303delT http://identifiers.org/clinvar/314230 ^@ NM_182894.2(VSX2):c.*1585A>C http://identifiers.org/clinvar/314330 ^@ NM_014239.3(EIF2B2):c.271G>C (p.Glu91Gln) http://identifiers.org/clinvar/316619 ^@ NM_004580.4(RAB27A):c.*1678T>A http://identifiers.org/clinvar/314730 ^@ NM_000153.3(GALC):c.*1451C>A http://identifiers.org/clinvar/316819 ^@ NM_004727.2(SLC24A1):c.*1199T>C http://identifiers.org/clinvar/324563 ^@ NM_007215.3(POLG2):c.-66C>T http://identifiers.org/clinvar/317069 ^@ NM_033028.4(BBS4):c.*36G>A http://identifiers.org/clinvar/317119 ^@ NM_022369.3(STRA6):c.4T>C (p.Ser2Pro) http://identifiers.org/clinvar/314980 ^@ NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) http://identifiers.org/clinvar/324913 ^@ NM_000346.3(SOX9):c.717C>T (p.Thr239=) http://identifiers.org/clinvar/317219 ^@ NM_000137.2(FAH):c.*94T>C http://identifiers.org/clinvar/317269 ^@ NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) http://identifiers.org/clinvar/317319 ^@ NM_001113378.1(FANCI):c.*614T>G http://identifiers.org/clinvar/325013 ^@ NM_023036.4(DNAI2):c.828G>A (p.Thr276=) http://identifiers.org/clinvar/315180 ^@ NM_139057.3(ADAMTS17):c.*1653C>G http://identifiers.org/clinvar/325463 ^@ NM_024599.5(RHBDF2):c.364G>A (p.Ala122Thr) http://identifiers.org/clinvar/317870 ^@ NM_005236.2(ERCC4):c.*3327A>G http://identifiers.org/clinvar/317920 ^@ NM_001287.5(CLCN7):c.*1144dupG http://identifiers.org/clinvar/373580 ^@ NM_001100.3(ACTA1):c.1004C>A (p.Pro335Gln) http://identifiers.org/clinvar/373380 ^@ NM_002977.3(SCN9A):c.892G>A (p.Asp298Asn) http://identifiers.org/clinvar/373530 ^@ NM_198586.2(NHLRC1):c.779A>G (p.His260Arg) http://identifiers.org/clinvar/373280 ^@ NM_002047.3(GARS):c.1553A>G (p.Tyr518Cys) http://identifiers.org/clinvar/373630 ^@ NM_006393.2(NEBL):c.2761G>C (p.Ala921Pro) http://identifiers.org/clinvar/373730 ^@ NM_032578.3(MYPN):c.3073dupC (p.Gln1025Profs) http://identifiers.org/clinvar/373230 ^@ NM_000834.3(GRIN2B):c.3922G>A (p.Val1308Met) http://identifiers.org/clinvar/373180 ^@ NM_198525.2(KIF7):c.785C>T (p.Thr262Met) http://identifiers.org/clinvar/373780 ^@ NM_000548.4(TSC2):c.-30+5G>T http://identifiers.org/clinvar/373330 ^@ NM_182641.3(BPTF):c.8262-2A>G http://identifiers.org/clinvar/373430 ^@ NM_000527.4(LDLR):c.1222G>C (p.Glu408Gln) http://identifiers.org/clinvar/373680 ^@ NM_000540.2(RYR1):c.5000G>A (p.Arg1667His) http://identifiers.org/clinvar/373480 ^@ NM_004928.2(C21orf2):c.182G>A (p.Cys61Tyr) http://identifiers.org/clinvar/372774 ^@ NM_000271.4(NPC1):c.2849T>G (p.Val950Gly) http://identifiers.org/clinvar/373130 ^@ NM_002641.3(PIGA):c.62G>T (p.Ser21Ile) http://identifiers.org/clinvar/373830 ^@ NM_000059.3(BRCA2):c.1324T>G (p.Ser442Ala) http://identifiers.org/clinvar/373880 ^@ NG_005905.2:g.(?_92501)_(93968_102204)del http://identifiers.org/clinvar/374183 ^@ NM_000350.2(ABCA4):c.5175dupG (p.Thr1726Aspfs) http://identifiers.org/clinvar/373983 ^@ NM_004082.4(DCTN1):c.581C>T (p.Pro194Leu) http://identifiers.org/clinvar/374133 ^@ NM_020732.3(ARID1B):c.3444delC (p.Leu1149Cysfs) http://identifiers.org/clinvar/374033 ^@ NM_002234.3(KCNA5):c.1703G>T (p.Gly568Val) http://identifiers.org/clinvar/373933 ^@ NM_023035.2(CACNA1A):c.574C>T (p.Arg192Trp) http://identifiers.org/clinvar/374083 ^@ NM_000540.2(RYR1):c.12532G>A (p.Gly4178Ser) http://identifiers.org/clinvar/374237 ^@ NM_001244810.1(FOXP1):c.1348+2T>C http://identifiers.org/clinvar/374307 ^@ NM_002016.1(FLG):c.4279G>A (p.Ala1427Thr) http://identifiers.org/clinvar/374372 ^@ NC_000023.10:g.(?_31792077)_(31854939_?)del http://identifiers.org/clinvar/374425 ^@ NM_000217.2(KCNA1):c.53A>C (p.His18Pro) http://identifiers.org/clinvar/374475 ^@ NM_002972.3(SBF1):c.3765C>T (p.Tyr1255=) http://identifiers.org/clinvar/374525 ^@ NM_002693.2(POLG):c.3557A>T (p.Asp1186Val) http://identifiers.org/clinvar/374575 ^@ NM_152263.3(TPM3):c.831C>T (p.His277=) http://identifiers.org/clinvar/375501 ^@ NM_001005463.2(EBF3):c.579G>T (p.Lys193Asn) http://identifiers.org/clinvar/375551 ^@ NM_001207008.1(AFDN):c.2488_2490delATCinsTGA (p.Ile830Ter) http://identifiers.org/clinvar/375618 ^@ NM_001396.3(DYRK1A):c.297_301delCTTGA (p.Leu100Glnfs) http://identifiers.org/clinvar/375669 ^@ NM_001199633.1(SLC28A3):c.1381C>T (p.Leu461=) http://identifiers.org/clinvar/375763 ^@ NM_015295.2(SMCHD1):c.1199A>T (p.Gln400Leu) http://identifiers.org/clinvar/375813 ^@ NM_000527.4(LDLR):c.1315A>T (p.Asn439Tyr) http://identifiers.org/clinvar/375863 ^@ NM_000109.3(DMD):c.4425G>A (p.Met1475Ile) http://identifiers.org/clinvar/375916 ^@ NM_000222.2(KIT):c.1679T>G (p.Val560Gly) http://identifiers.org/clinvar/392348 ^@ NM_000251.2(MSH2):c.2006-15T>C http://identifiers.org/clinvar/379033 ^@ NM_000179.2(MSH6):c.3831C>T (p.Asp1277=) http://identifiers.org/clinvar/384871 ^@ NM_004328.4(BCS1L):c.771G>A (p.Thr257=) http://identifiers.org/clinvar/381726 ^@ NM_005677.3(COLQ):c.1010T>C (p.Ile337Thr) http://identifiers.org/clinvar/384771 ^@ NM_015929.3(LIPT1):c.-140C>T http://identifiers.org/clinvar/381827 ^@ NM_022915.3(MRPL44):c.30G>A (p.Gln10=) http://identifiers.org/clinvar/378883 ^@ NM_006070.5(TFG):c.-323G>T http://identifiers.org/clinvar/381626 ^@ NM_000539.3(RHO):c.263T>C (p.Leu88Pro) http://identifiers.org/clinvar/378733 ^@ NM_024334.2(TMEM43):c.516C>T (p.Ala172=) http://identifiers.org/clinvar/385621 ^@ NM_005051.2(QARS):c.2152-11C>G http://identifiers.org/clinvar/380775 ^@ NM_004393.5(DAG1):c.-136G>A http://identifiers.org/clinvar/387970 ^@ NM_000158.3(GBE1):c.1237-18C>T http://identifiers.org/clinvar/390359 ^@ NM_006514.3(SCN10A):c.1140A>T (p.Val380=) http://identifiers.org/clinvar/378430 ^@ NM_001126128.1(PROK2):c.84C>G (p.Ala28=) http://identifiers.org/clinvar/390259 ^@ NM_033109.4(PNPT1):c.1929T>C (p.Asp643=) http://identifiers.org/clinvar/390209 ^@ NM_015120.4(ALMS1):c.10172C>T (p.Ala3391Val) http://identifiers.org/clinvar/392398 ^@ NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) http://identifiers.org/clinvar/382127 ^@ NM_004637.5(RAB7A):c.183A>C (p.Ile61=) http://identifiers.org/clinvar/381176 ^@ NM_002887.3(RARS):c.1236+17G>A http://identifiers.org/clinvar/391559 ^@ NM_005654.5(NR2F1):c.992-16G>A http://identifiers.org/clinvar/388120 ^@ NM_178012.4(TUBB2B):c.447C>A (p.Thr149=) http://identifiers.org/clinvar/390609 ^@ NM_183050.3(BCKDHB):c.637G>T (p.Val213Phe) http://identifiers.org/clinvar/388470 ^@ NM_001457.3(FLNB):c.982A>G (p.Lys328Glu) http://identifiers.org/clinvar/392598 ^@ NM_198586.2(NHLRC1):c.467C>T (p.Ser156Leu) http://identifiers.org/clinvar/381326 ^@ NM_004415.3(DSP):c.5463C>T (p.Val1821=) http://identifiers.org/clinvar/385121 ^@ NM_004415.3(DSP):c.867C>T (p.Cys289=) http://identifiers.org/clinvar/384721 ^@ NM_000739.2(CHRM2):c.-267G>A http://identifiers.org/clinvar/381126 ^@ NM_000038.5(APC):c.1743+6T>C http://identifiers.org/clinvar/379133 ^@ NM_004333.4(BRAF):c.855A>G (p.Gln285=) http://identifiers.org/clinvar/388420 ^@ NM_002485.4(NBN):c.712T>C (p.Leu238=) http://identifiers.org/clinvar/380574 ^@ NM_002887.3(RARS):c.982G>A (p.Val328Ile) http://identifiers.org/clinvar/379533 ^@ NM_003165.3(STXBP1):c.794+5G>A http://identifiers.org/clinvar/379683 ^@ NM_003172.3(SURF1):c.883C>T (p.Arg295Cys) http://identifiers.org/clinvar/384971 ^@ NM_002485.4(NBN):c.37+3A>G http://identifiers.org/clinvar/379633 ^@ NM_002485.4(NBN):c.-12G>A http://identifiers.org/clinvar/388670 ^@ NM_020822.2(KCNT1):c.261G>A (p.Gln87=) http://identifiers.org/clinvar/380474 ^@ NM_006904.6(PRKDC):c.10626C>T (p.Phe3542=) http://identifiers.org/clinvar/389809 ^@ NM_002485.4(NBN):c.-21C>T http://identifiers.org/clinvar/393248 ^@ NM_006393.2(NEBL):c.2704G>A (p.Glu902Lys) http://identifiers.org/clinvar/133023 ^@ NM_000540.2(RYR1):c.11908-23C>T http://identifiers.org/clinvar/133073 ^@ NM_000540.2(RYR1):c.14510delA (p.Gln4837Argfs) http://identifiers.org/clinvar/133123 ^@ NM_000540.2(RYR1):c.3042G>A (p.Ala1014=) http://identifiers.org/clinvar/133173 ^@ NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) http://identifiers.org/clinvar/133302 ^@ NM_006941.3(SOX10):c.1127C>G (p.Ser376Ter) http://identifiers.org/clinvar/133365 ^@ NM_017617.4(NOTCH1):c.5167+108C>T http://identifiers.org/clinvar/133415 ^@ NM_003820.3(TNFRSF14):c.305-59_305-57delCCCinsACT http://identifiers.org/clinvar/133465 ^@ NM_004304.4(ALK):c.3035C>T (p.Thr1012Met) http://identifiers.org/clinvar/133516 ^@ NM_000038.5(APC):c.8467A>C (p.Thr2823Pro) http://identifiers.org/clinvar/133820 ^@ NM_001321786.1(CBLB):c.1946_1947insAGC (p.Ala649_Ser650insAla) http://identifiers.org/clinvar/133870 ^@ NM_015083.2(CDK12):c.1579C>A (p.Pro527Thr) http://identifiers.org/clinvar/133920 ^@ NM_015125.4(CIC):c.551C>T (p.Ser184Phe) http://identifiers.org/clinvar/133970 ^@ NM_177438.2(DICER1):c.3553G>A (p.Ala1185Thr) http://identifiers.org/clinvar/134870 ^@ NM_001172567.1(MYD88):c.77C>A (p.Pro26Gln) http://identifiers.org/clinvar/134920 ^@ NM_017617.4(NOTCH1):c.2635C>T (p.Arg879Trp) http://identifiers.org/clinvar/134970 ^@ NM_024408.3(NOTCH2):c.3700C>T (p.His1234Tyr) http://identifiers.org/clinvar/135020 ^@ NM_006206.4(PDGFRA):c.2936G>A (p.Arg979His) http://identifiers.org/clinvar/135071 ^@ NM_000535.6(PMS2):c.653G>A (p.Gly218Asp) http://identifiers.org/clinvar/135122 ^@ NM_000321.2(RB1):c.1862G>A (p.Arg621His) http://identifiers.org/clinvar/135173 ^@ NM_004260.3(RECQL4):c.1564C>T (p.Arg522Cys) http://identifiers.org/clinvar/135203 ^@ NM_014159.6(SETD2):c.5812G>A (p.Val1938Ile) http://identifiers.org/clinvar/135254 ^@ NM_001128849.1(SMARCA4):c.3841G>A (p.Val1281Ile) http://identifiers.org/clinvar/135304 ^@ NM_001127208.2(TET2):c.2549A>G (p.His850Arg) http://identifiers.org/clinvar/135354 ^@ NM_003820.3(TNFRSF14):c.521G>A (p.Gly174Glu) http://identifiers.org/clinvar/135405 ^@ NM_000551.3(VHL):c.119C>T (p.Pro40Leu) http://identifiers.org/clinvar/135555 ^@ NM_001127500.2(MET):c.-14-3297G>C http://identifiers.org/clinvar/135630 ^@ NM_003337.3(UBE2B):c.23G>C (p.Arg8Thr) http://identifiers.org/clinvar/135690 ^@ NM_000038.5(APC):c.2593C>T (p.Pro865Ser) http://identifiers.org/clinvar/135741 ^@ NM_000051.3(ATM):c.198A>G (p.Lys66=) http://identifiers.org/clinvar/135796 ^@ NM_000059.3(BRCA2):c.3417G>A (p.Lys1139=) http://identifiers.org/clinvar/135850 ^@ NM_000249.3(MLH1):c.2111T>G (p.Val704Gly) http://identifiers.org/clinvar/135900 ^@ NM_000264.3(PTCH1):c.4239C>T (p.His1413=) http://identifiers.org/clinvar/135950 ^@ NM_000546.5(TP53):c.582T>C (p.Leu194=) http://identifiers.org/clinvar/136002 ^@ NM_001166110.1(PALLD):c.201G>T (p.Pro67=) http://identifiers.org/clinvar/136052 ^@ NM_004329.2(BMPR1A):c.676-5T>C http://identifiers.org/clinvar/136103 ^@ NM_020975.4(RET):c.1699G>A (p.Asp567Asn) http://identifiers.org/clinvar/136153 ^@ NM_032043.2(BRIP1):c.701A>G (p.Lys234Arg) http://identifiers.org/clinvar/136214 ^@ NM_020745.3(AARS2):c.2188G>A (p.Val730Met) http://identifiers.org/clinvar/136264 ^@ NM_001098.2(ACO2):c.1954-13G>A http://identifiers.org/clinvar/136315 ^@ NM_006796.2(AFG3L2):c.2175+18G>A http://identifiers.org/clinvar/136366 ^@ NM_000692.4(ALDH1B1):c.1299G>C (p.Val433=) http://identifiers.org/clinvar/185455 ^@ NM_001042492.2(NF1):c.7415C>G (p.Pro2472Arg) http://identifiers.org/clinvar/185705 ^@ NM_007294.3(BRCA1):c.212G>T (p.Arg71Met) http://identifiers.org/clinvar/185905 ^@ NM_032043.2(BRIP1):c.3388A>T (p.Ile1130Phe) http://identifiers.org/clinvar/185355 ^@ NM_005359.5(SMAD4):c.776C>T (p.Thr259Ile) http://identifiers.org/clinvar/184316 ^@ NM_000455.4(STK11):c.828C>T (p.Gly276=) http://identifiers.org/clinvar/184516 ^@ NM_000455.4(STK11):c.1200G>A (p.Leu400=) http://identifiers.org/clinvar/188029 ^@ NM_004409.4(DMPK):c.*224_*226[76] http://identifiers.org/clinvar/188079 ^@ NM_001128425.1(MUTYH):c.1570A>G (p.Met524Val) http://identifiers.org/clinvar/188181 ^@ NM_000179.2(MSH6):c.1498G>A (p.Ala500Thr) http://identifiers.org/clinvar/188395 ^@ NM_152618.2(BBS12):c.1139C>T (p.Thr380Ile) http://identifiers.org/clinvar/188286 ^@ NM_000077.4(CDKN2A):c.142C>A (p.Pro48Thr) http://identifiers.org/clinvar/188130 ^@ NM_000264.3(PTCH1):c.4001G>A (p.Ser1334Asn) http://identifiers.org/clinvar/188232 ^@ NM_000051.3(ATM):c.2689T>A (p.Phe897Ile) http://identifiers.org/clinvar/188338 ^@ NM_015346.3(ZFYVE26):c.7055C>T (p.Thr2352Ile) http://identifiers.org/clinvar/188549 ^@ NM_000256.3(MYBPC3):c.1458-17C>T http://identifiers.org/clinvar/188649 ^@ NM_000257.3(MYH7):c.*20G>A http://identifiers.org/clinvar/188599 ^@ NM_000257.3(MYH7):c.639+20A>G http://identifiers.org/clinvar/188699 ^@ NM_001018005.1(TPM1):c.564-29C>T http://identifiers.org/clinvar/188449 ^@ NM_001943.4(DSG2):c.523+20T>C http://identifiers.org/clinvar/188499 ^@ NM_001110792.1(MECP2):c.1023_1029delTGAGAAGins13 (p.?) http://identifiers.org/clinvar/189001 ^@ NM_000478.5(ALPL):c.667C>T (p.Arg223Trp) http://identifiers.org/clinvar/189101 ^@ NM_000056.4(BCKDHB):c.93_103dupGGCGCGGGGCT (p.Phe35Trpfs) http://identifiers.org/clinvar/188950 ^@ NM_000441.1(SLC26A4):c.235C>T (p.Arg79Ter) http://identifiers.org/clinvar/188799 ^@ NM_001164277.1(SLC37A4):c.923_934dupTGGCTGGCATGA (p.Met311_Thr312insMetAlaGlyMet) http://identifiers.org/clinvar/189151 ^@ NM_001876.3(CPT1A):c.1364A>C (p.Lys455Thr) http://identifiers.org/clinvar/189051 ^@ NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) http://identifiers.org/clinvar/188900 ^@ NM_000053.3(ATP7B):c.3556G>A (p.Gly1186Ser) http://identifiers.org/clinvar/188749 ^@ NM_000053.3(ATP7B):c.2575+1G>C http://identifiers.org/clinvar/188849 ^@ NM_000271.4(NPC1):c.2761C>T (p.Gln921Ter) http://identifiers.org/clinvar/189201 ^@ NM_016035.4(COQ4):c.718C>T (p.Arg240Cys) http://identifiers.org/clinvar/189269 ^@ NM_014795.3(ZEB2):c.660C>G (p.Tyr220Ter) http://identifiers.org/clinvar/189324 ^@ NM_198056.2(SCN5A):c.1338+2T>A http://identifiers.org/clinvar/242607 ^@ NM_000426.3(LAMA2):c.8282T>C (p.Ile2761Thr) http://identifiers.org/clinvar/190333 ^@ NM_002055.4(GFAP):c.205G>A (p.Glu69Lys) http://identifiers.org/clinvar/190390 ^@ NM_001288953.1(TTC7A):c.213_216delTCTA (p.Tyr71Terfs) http://identifiers.org/clinvar/228556 ^@ NM_004403.2(DFNA5):c.1213G>A (p.Gly405Ser) http://identifiers.org/clinvar/227375 ^@ NM_021167.4(GATAD1):c.468T>C (p.Ser156=) http://identifiers.org/clinvar/228406 ^@ NM_138691.2(TMC1):c.1676G>A (p.Trp559Ter) http://identifiers.org/clinvar/228456 ^@ NM_004281.3(BAG3):c.200A>G (p.Asn67Ser) http://identifiers.org/clinvar/227224 ^@ NM_022124.5(CDH23):c.4210-13C>T http://identifiers.org/clinvar/228506 ^@ NM_022124.5(CDH23):c.9264G>C (p.Trp3088Cys) http://identifiers.org/clinvar/227074 ^@ NM_003019.4(SFTPD):c.199+9G>A http://identifiers.org/clinvar/227805 ^@ NM_001277269.1(OTOG):c.8072G>A (p.Arg2691His) http://identifiers.org/clinvar/228756 ^@ NM_001130089.1(KARS):c.1522G>C (p.Glu508Gln) http://identifiers.org/clinvar/228656 ^@ NM_032978.6(DTNA):c.*13G>C http://identifiers.org/clinvar/227525 ^@ NM_144612.6(LOXHD1):c.4734C>T (p.Tyr1578=) http://identifiers.org/clinvar/228356 ^@ NM_002294.2(LAMP2):c.294G>A (p.Trp98Ter) http://identifiers.org/clinvar/228256 ^@ NM_001399.4(EDA):c.477A>T (p.Arg159Ser) http://identifiers.org/clinvar/227855 ^@ NM_000307.4(POU3F4):c.798G>A (p.Pro266=) http://identifiers.org/clinvar/227275 ^@ NM_001885.2(CRYAB):c.370A>G (p.Ile124Val) http://identifiers.org/clinvar/228056 ^@ NM_144991.2(TSPEAR):c.943G>A (p.Val315Met) http://identifiers.org/clinvar/234254 ^@ NM_018136.4(ASPM):c.302A>G (p.Lys101Arg) http://identifiers.org/clinvar/234533 ^@ NM_000179.2(MSH6):c.2899A>G (p.Ile967Val) http://identifiers.org/clinvar/234835 ^@ NM_006070.5(TFG):c.1006C>T (p.Pro336Ser) http://identifiers.org/clinvar/234482 ^@ NM_000535.6(PMS2):c.2500_2501delAT (p.Met834Glyfs) http://identifiers.org/clinvar/234684 ^@ NM_006096.3(NDRG1):c.307G>T (p.Ala103Ser) http://identifiers.org/clinvar/234634 ^@ NM_000136.2(FANCC):c.880G>T (p.Val294Phe) http://identifiers.org/clinvar/234311 ^@ NM_000136.2(FANCC):c.472G>C (p.Ala158Pro) http://identifiers.org/clinvar/234432 ^@ NM_000059.3(BRCA2):c.2345T>A (p.Leu782Gln) http://identifiers.org/clinvar/234734 ^@ NM_000059.3(BRCA2):c.7034A>G (p.Gln2345Arg) http://identifiers.org/clinvar/234784 ^@ NM_000257.3(MYH7):c.1664A>G (p.Asn555Ser) http://identifiers.org/clinvar/234362 ^@ NM_000243.2(MEFV):c.1382G>A (p.Arg461Gln) http://identifiers.org/clinvar/233799 ^@ NM_032043.2(BRIP1):c.1760A>T (p.His587Leu) http://identifiers.org/clinvar/234885 ^@ NM_032043.2(BRIP1):c.1141-6T>G http://identifiers.org/clinvar/234584 ^@ NM_000455.4(STK11):c.248A>G (p.Lys83Arg) http://identifiers.org/clinvar/234000 ^@ NM_001128425.1(MUTYH):c.463A>T (p.Lys155Ter) http://identifiers.org/clinvar/233950 ^@ NM_000465.3(BARD1):c.1350T>G (p.Asn450Lys) http://identifiers.org/clinvar/231457 ^@ NM_000251.2(MSH2):c.45C>T (p.Ala15=) http://identifiers.org/clinvar/233697 ^@ NM_000251.2(MSH2):c.1731T>C (p.Ile577=) http://identifiers.org/clinvar/233850 ^@ NM_000251.2(MSH2):c.1799C>G (p.Ala600Gly) http://identifiers.org/clinvar/232107 ^@ NM_000251.2(MSH2):c.1967A>G (p.Tyr656Cys) http://identifiers.org/clinvar/233647 ^@ NM_000251.2(MSH2):c.2634+2T>G http://identifiers.org/clinvar/231407 ^@ NM_000179.2(MSH6):c.830A>G (p.Glu277Gly) http://identifiers.org/clinvar/231557 ^@ NM_000179.2(MSH6):c.1207C>T (p.Leu403Phe) http://identifiers.org/clinvar/234200 ^@ NM_000179.2(MSH6):c.1656T>A (p.His552Gln) http://identifiers.org/clinvar/264654 ^@ NM_001204.6(BMPR2):c.248-329_418+6029del http://identifiers.org/clinvar/264714 ^@ NM_001242896.1(DEPDC5):c.193+1G>A http://identifiers.org/clinvar/264764 ^@ NM_001242896.1(DEPDC5):c.3803G>A (p.Arg1268Gln) http://identifiers.org/clinvar/264869 ^@ NM_000059.3(BRCA2):c.*842A>G http://identifiers.org/clinvar/264819 ^@ NM_007294.3(BRCA1):c.134+2990G>A http://identifiers.org/clinvar/265124 ^@ NM_004453.3(ETFDH):c.1832G>A (p.Gly611Glu) http://identifiers.org/clinvar/265174 ^@ NM_000162.3(GCK):c.533G>A (p.Gly178Glu) http://identifiers.org/clinvar/265021 ^@ NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His) http://identifiers.org/clinvar/265074 ^@ NM_001031737.2(CCDC78):c.492+1G>A http://identifiers.org/clinvar/265226 ^@ NM_000425.4(L1CAM):c.2544C>A (p.Tyr848Ter) http://identifiers.org/clinvar/266890 ^@ NM_000059.3(BRCA2):c.568_575delCCTGATAT (p.Pro190Valfs) http://identifiers.org/clinvar/266640 ^@ NM_000059.3(BRCA2):c.1504_1511delAAAAAGTC (p.Lys502Tyrfs) http://identifiers.org/clinvar/266690 ^@ NM_000059.3(BRCA2):c.2255dupA (p.Asp752Glufs) http://identifiers.org/clinvar/266740 ^@ NM_000059.3(BRCA2):c.3244A>T (p.Lys1082Ter) http://identifiers.org/clinvar/266790 ^@ NM_000059.3(BRCA2):c.4092dupA (p.Cys1365Metfs) http://identifiers.org/clinvar/266840 ^@ NM_000059.3(BRCA2):c.4960dupT (p.Cys1654Leufs) http://identifiers.org/clinvar/266940 ^@ NM_000059.3(BRCA2):c.6340_6341delCC (p.Pro2114Argfs) http://identifiers.org/clinvar/266990 ^@ NM_000059.3(BRCA2):c.7191delT (p.Thr2398Leufs) http://identifiers.org/clinvar/267040 ^@ NM_000059.3(BRCA2):c.7878_7881dupGATC (p.Ile2628Aspfs) http://identifiers.org/clinvar/267090 ^@ NM_000059.3(BRCA2):c.8478C>G (p.Tyr2826Ter) http://identifiers.org/clinvar/267140 ^@ NM_000059.3(BRCA2):c.9106delCinsTACT (p.Gln3036_Arg3370delinsTyrTer) http://identifiers.org/clinvar/266540 ^@ NM_007294.3(BRCA1):c.5267_5268insC (p.Gln1756Hisfs) http://identifiers.org/clinvar/266490 ^@ NM_007294.3(BRCA1):c.4688dupA (p.Tyr1563Terfs) http://identifiers.org/clinvar/266440 ^@ NM_007294.3(BRCA1):c.4074_4090del17 (p.Gln1359Leufs) http://identifiers.org/clinvar/266340 ^@ NM_007294.3(BRCA1):c.3182delT (p.Ile1061Lysfs) http://identifiers.org/clinvar/266290 ^@ NM_007294.3(BRCA1):c.2675T>G (p.Leu892Ter) http://identifiers.org/clinvar/266240 ^@ NM_007294.3(BRCA1):c.2214_2218delTAAAGinsAAA (p.Lys739Asnfs) http://identifiers.org/clinvar/266190 ^@ NM_007294.3(BRCA1):c.1803delC (p.His601Glnfs) http://identifiers.org/clinvar/266590 ^@ NM_007294.3(BRCA1):c.898G>T (p.Glu300Ter) http://identifiers.org/clinvar/266390 ^@ NM_007294.3(BRCA1):c.36_39delAAAT (p.Asn13Serfs) http://identifiers.org/clinvar/267201 ^@ NC_000004.12:g.110853395_114363395del3510001 http://identifiers.org/clinvar/267263 ^@ NM_020732.3(ARID1B):c.6255_6256delCC (p.Cys2087Terfs) http://identifiers.org/clinvar/267342 ^@ NM_000535.6(PMS2):c.989-?_1144+?del http://identifiers.org/clinvar/267411 ^@ NM_001256214.1(ATP1A3):c.424G>A (p.Val142Met) http://identifiers.org/clinvar/267547 ^@ NM_007294.3(BRCA1):c.4484+1G>T http://identifiers.org/clinvar/267497 ^@ NM_007294.3(BRCA1):c.117T>G (p.Cys39Trp) http://identifiers.org/clinvar/291170 ^@ NM_004006.2(DMD):c.8322G>A (p.Leu2774=) http://identifiers.org/clinvar/291220 ^@ NM_003494.3(DYSF):c.6122G>T (p.Arg2041Leu) http://identifiers.org/clinvar/291270 ^@ NM_000540.2(RYR1):c.12990C>G (p.Thr4330=) http://identifiers.org/clinvar/291385 ^@ NM_001918.3(DBT):c.*8385A>C http://identifiers.org/clinvar/291435 ^@ NM_001918.3(DBT):c.*2114T>C http://identifiers.org/clinvar/291485 ^@ NM_001854.3(COL11A1):c.*628dupA http://identifiers.org/clinvar/291535 ^@ NM_001854.3(COL11A1):c.1427G>A (p.Arg476His) http://identifiers.org/clinvar/291585 ^@ NM_015074.3(KIF1B):c.*2T>C http://identifiers.org/clinvar/292127 ^@ NM_001232.3(CASQ2):c.1006G>A (p.Val336Ile) http://identifiers.org/clinvar/292177 ^@ NM_005957.4(MTHFR):c.*3158G>A http://identifiers.org/clinvar/292227 ^@ NM_005957.4(MTHFR):c.*109C>T http://identifiers.org/clinvar/292377 ^@ NM_014874.3(MFN2):c.1950G>A (p.Leu650=) http://identifiers.org/clinvar/292027 ^@ NM_138959.2(VANGL1):c.*694C>A http://identifiers.org/clinvar/292277 ^@ NM_000302.3(PLOD1):c.89T>C (p.Val30Ala) http://identifiers.org/clinvar/292327 ^@ NM_005518.3(HMGCS2):c.1522G>A (p.Val508Ile) http://identifiers.org/clinvar/292077 ^@ NM_138959.2(VANGL1):c.*4676C>G http://identifiers.org/clinvar/292477 ^@ NM_005850.4(SF3B4):c.707-8C>T http://identifiers.org/clinvar/292727 ^@ NM_001111.4(ADAR):c.*1104T>C http://identifiers.org/clinvar/293077 ^@ NM_002241.4(KCNJ10):c.*3023T>C http://identifiers.org/clinvar/292777 ^@ NM_001111.4(ADAR):c.1405G>T (p.Ala469Ser) http://identifiers.org/clinvar/292877 ^@ NM_001012331.1(NTRK1):c.509T>C (p.Val170Ala) http://identifiers.org/clinvar/293327 ^@ NM_003001.3(SDHC):c.*409G>A http://identifiers.org/clinvar/293377 ^@ NM_006182.2(DDR2):c.1005G>C (p.Thr335=) http://identifiers.org/clinvar/292427 ^@ NM_213653.3(HFE2):c.559G>T (p.Val187Phe) http://identifiers.org/clinvar/292527 ^@ NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=) http://identifiers.org/clinvar/292627 ^@ NM_152263.3(TPM3):c.*5701C>T http://identifiers.org/clinvar/292577 ^@ NM_019032.5(ADAMTSL4):c.*640C>A http://identifiers.org/clinvar/292677 ^@ NM_152263.3(TPM3):c.*1247dupA http://identifiers.org/clinvar/292827 ^@ NM_005572.3(LMNA):c.-142C>A http://identifiers.org/clinvar/292927 ^@ NM_003126.2(SPTA1):c.*127_*132dupTGTGTG http://identifiers.org/clinvar/292977 ^@ NM_003126.2(SPTA1):c.5004A>G (p.Thr1668=) http://identifiers.org/clinvar/293027 ^@ NM_003126.2(SPTA1):c.1834-15_1834-14delTT http://identifiers.org/clinvar/294066 ^@ NM_000433.3(NCF2):c.*398G>T http://identifiers.org/clinvar/293127 ^@ NM_000702.3(ATP1A2):c.360G>A (p.Glu120=) http://identifiers.org/clinvar/293177 ^@ NM_000702.3(ATP1A2):c.*1547_*1548delGCinsTT http://identifiers.org/clinvar/294116 ^@ NM_031935.2(HMCN1):c.2119G>T (p.Val707Phe) http://identifiers.org/clinvar/293227 ^@ NM_002857.3(PEX19):c.498T>G (p.Asp166Glu) http://identifiers.org/clinvar/294166 ^@ NM_031935.2(HMCN1):c.5888G>T (p.Gly1963Val) http://identifiers.org/clinvar/293427 ^@ NM_004431.4(EPHA2):c.1608G>A (p.Ala536=) http://identifiers.org/clinvar/293277 ^@ NM_004550.4(NDUFS2):c.867T>C (p.Ser289=) http://identifiers.org/clinvar/294266 ^@ NM_031935.2(HMCN1):c.13442C>A (p.Ser4481Tyr) http://identifiers.org/clinvar/294416 ^@ NM_024529.4(CDC73):c.*94A>G http://identifiers.org/clinvar/294566 ^@ NM_001994.2(F13B):c.*143G>A http://identifiers.org/clinvar/294616 ^@ NM_018136.4(ASPM):c.6716T>C (p.Leu2239Pro) http://identifiers.org/clinvar/294666 ^@ NM_201253.2(CRB1):c.-195G>A http://identifiers.org/clinvar/294916 ^@ NM_003465.2(CHIT1):c.1156+4A>G http://identifiers.org/clinvar/294966 ^@ NM_002389.4(CD46):c.-6C>T http://identifiers.org/clinvar/295116 ^@ NM_000228.2(LAMB3):c.1051G>A (p.Glu351Lys) http://identifiers.org/clinvar/295016 ^@ NM_032409.2(PINK1):c.*349G>C http://identifiers.org/clinvar/344308 ^@ NM_020166.4(MCCC1):c.1281C>T (p.Ser427=) http://identifiers.org/clinvar/343508 ^@ NM_024334.2(TMEM43):c.1061G>A (p.Cys354Tyr) http://identifiers.org/clinvar/336032 ^@ NM_022436.2(ABCG5):c.*357dupT http://identifiers.org/clinvar/336539 ^@ NM_001135659.2(NRXN1):c.*110G>A http://identifiers.org/clinvar/343808 ^@ NM_174878.2(CLRN1):c.*301_*304dupGTGT http://identifiers.org/clinvar/336639 ^@ NM_001039348.2(EFEMP1):c.-105C>T http://identifiers.org/clinvar/336232 ^@ NM_001430.4(EPAS1):c.-58dupC http://identifiers.org/clinvar/336282 ^@ NM_001430.4(EPAS1):c.2511C>T (p.Pro837=) http://identifiers.org/clinvar/343908 ^@ NM_000060.4(BTD):c.907C>T (p.His303Tyr) http://identifiers.org/clinvar/336689 ^@ NM_002618.3(PEX13):c.*1377G>A http://identifiers.org/clinvar/344008 ^@ NM_001041.3(SI):c.4779T>C (p.Phe1593=) http://identifiers.org/clinvar/336739 ^@ NM_032180.2(FAM161A):c.1013G>A (p.Arg338Gln) http://identifiers.org/clinvar/336839 ^@ NM_002056.3(GFPT1):c.*2310A>G http://identifiers.org/clinvar/344108 ^@ NM_145860.1(PDCD10):c.574G>A (p.Val192Ile) http://identifiers.org/clinvar/336489 ^@ NM_000145.3(FSHR):c.485G>A (p.Arg162Lys) http://identifiers.org/clinvar/336889 ^@ NM_001002755.2(NFU1):c.495A>T (p.Glu165Asp) http://identifiers.org/clinvar/336589 ^@ NM_001135659.2(NRXN1):c.-1373C>A http://identifiers.org/clinvar/336939 ^@ NM_032601.3(MCEE):c.271C>A (p.Leu91Met) http://identifiers.org/clinvar/336989 ^@ NM_003124.4(SPR):c.115C>T (p.Leu39Phe) http://identifiers.org/clinvar/344508 ^@ NM_015560.2(OPA1):c.*2156A>G http://identifiers.org/clinvar/344558 ^@ NM_000461.4(THRB):c.*4340G>A http://identifiers.org/clinvar/337189 ^@ NM_000821.6(GGCX):c.*3821dupA http://identifiers.org/clinvar/337239 ^@ NM_000821.6(GGCX):c.*745_*749delTTAAC http://identifiers.org/clinvar/342858 ^@ NM_053025.3(MYLK):c.*213T>A http://identifiers.org/clinvar/342758 ^@ NM_000187.3(HGD):c.-207G>A http://identifiers.org/clinvar/342958 ^@ NM_000373.3(UMPS):c.*1326C>A http://identifiers.org/clinvar/342908 ^@ NM_053025.3(MYLK):c.188A>G (p.Gln63Arg) http://identifiers.org/clinvar/343208 ^@ NM_014049.4(ACAD9):c.*26C>T http://identifiers.org/clinvar/343308 ^@ NM_000539.3(RHO):c.*1200T>C http://identifiers.org/clinvar/343408 ^@ NM_003571.3(BFSP2):c.437G>T (p.Arg146Leu) http://identifiers.org/clinvar/347757 ^@ NM_001080522.2(CC2D2A):c.1713G>A (p.Met571Ile) http://identifiers.org/clinvar/343258 ^@ NM_052985.3(IFT122):c.2834C>T (p.Ala945Val) http://identifiers.org/clinvar/343358 ^@ NM_153240.4(NPHP3):c.*815G>A http://identifiers.org/clinvar/343458 ^@ NM_000532.4(PCCB):c.116T>C (p.Ile39Thr) http://identifiers.org/clinvar/343558 ^@ NM_004628.4(XPC):c.*192T>C http://identifiers.org/clinvar/343758 ^@ NM_000096.3(CP):c.2286-4dupT http://identifiers.org/clinvar/343858 ^@ NM_004733.3(SLC33A1):c.*1230A>G http://identifiers.org/clinvar/343608 ^@ NM_001184.3(ATR):c.3945+2dupT http://identifiers.org/clinvar/353924 ^@ NM_001104631.1(PDE4D):c.*4294_*4298delATTTT http://identifiers.org/clinvar/353624 ^@ NM_002310.5(LIFR):c.1756G>T (p.Glu586Ter) http://identifiers.org/clinvar/353874 ^@ NM_176806.3(MOCS2):c.*630G>A http://identifiers.org/clinvar/362162 ^@ NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) http://identifiers.org/clinvar/362212 ^@ NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) http://identifiers.org/clinvar/362262 ^@ NM_130849.3(SLC39A4):c.257C>T (p.Pro86Leu) http://identifiers.org/clinvar/354224 ^@ NM_003664.4(AP3B1):c.2810-4C>T http://identifiers.org/clinvar/353974 ^@ NM_001104631.1(PDE4D):c.*831A>C http://identifiers.org/clinvar/354074 ^@ NM_017755.5(NSUN2):c.-305C>T http://identifiers.org/clinvar/362462 ^@ NM_005144.4(HR):c.*734G>A http://identifiers.org/clinvar/354474 ^@ NM_004385.4(VCAN):c.*446T>C http://identifiers.org/clinvar/362612 ^@ NM_006129.4(BMP1):c.*444C>T http://identifiers.org/clinvar/358863 ^@ NM_000883.3(IMPDH1):c.*259G>A http://identifiers.org/clinvar/354374 ^@ NM_002454.2(MTRR):c.*686G>T http://identifiers.org/clinvar/354574 ^@ NM_002397.4(MEF2C):c.*2267dupA http://identifiers.org/clinvar/363162 ^@ NM_152419.2(HGSNAT):c.*1137C>T http://identifiers.org/clinvar/359363 ^@ NM_016203.3(PRKAG2):c.-517G>T http://identifiers.org/clinvar/359463 ^@ NM_058246.3(DNAJB6):c.*382G>A http://identifiers.org/clinvar/359513 ^@ NM_001101426.3(ISPD):c.*2522G>A http://identifiers.org/clinvar/355564 ^@ NM_000416.2(IFNGR1):c.48G>A (p.Arg16=) http://identifiers.org/clinvar/360013 ^@ NM_002047.3(GARS):c.1420C>A (p.Arg474=) http://identifiers.org/clinvar/360063 ^@ NM_198428.2(BBS9):c.1535C>T (p.Thr512Ile) http://identifiers.org/clinvar/364251 ^@ NM_001701.3(BAAT):c.*1701G>C http://identifiers.org/clinvar/360163 ^@ NM_000168.5(GLI3):c.*2715G>A http://identifiers.org/clinvar/364301 ^@ NM_000035.3(ALDOB):c.*286C>T http://identifiers.org/clinvar/364401 ^@ NM_005502.3(ABCA1):c.4440G>T (p.Gly1480=) http://identifiers.org/clinvar/364451 ^@ NM_005502.3(ABCA1):c.936C>T (p.Pro312=) http://identifiers.org/clinvar/360363 ^@ NM_014855.2(AP5Z1):c.*765C>G http://identifiers.org/clinvar/355664 ^@ NM_003764.3(STX11):c.*4195G>A http://identifiers.org/clinvar/360463 ^@ NM_005228.4(EGFR):c.1931C>T (p.Pro644Leu) http://identifiers.org/clinvar/360563 ^@ NM_000048.3(ASL):c.-44+9G>A http://identifiers.org/clinvar/360613 ^@ NM_153033.4(KCTD7):c.*1960T>C http://identifiers.org/clinvar/364801 ^@ NM_000177.4(GSN):c.396C>T (p.Thr132=) http://identifiers.org/clinvar/355814 ^@ NM_033071.3(SYNE1):c.23949G>A (p.Thr7983=) http://identifiers.org/clinvar/356264 ^@ NM_000063.5(C2):c.*183C>T http://identifiers.org/clinvar/365051 ^@ NM_003165.3(STXBP1):c.1110+6A>T http://identifiers.org/clinvar/356064 ^@ NM_198586.2(NHLRC1):c.*482C>G http://identifiers.org/clinvar/356414 ^@ NM_080680.2(COL11A2):c.-174C>A http://identifiers.org/clinvar/365351 ^@ NM_015046.5(SETX):c.5283A>G (p.Gln1761=) http://identifiers.org/clinvar/356364 ^@ NM_148919.3(PSMB8):c.483G>A (p.Gln161=) http://identifiers.org/clinvar/356514 ^@ NM_182548.3(LHFPL5):c.*483_*484dupTA http://identifiers.org/clinvar/361352 ^@ NM_178857.5(RP1L1):c.2316G>A (p.Ser772=) http://identifiers.org/clinvar/361712 ^@ NM_014846.3(WASHC5):c.3225A>G (p.Pro1075=) http://identifiers.org/clinvar/366091 ^@ NM_144966.5(FREM1):c.*437A>G http://identifiers.org/clinvar/361862 ^@ NM_004519.3(KCNQ3):c.*747_*754dupCACACACA http://identifiers.org/clinvar/366241 ^@ NM_002451.3(MTAP):c.300G>A (p.Glu100=) http://identifiers.org/clinvar/303143 ^@ NM_018400.3(SCN3B):c.*3242G>A http://identifiers.org/clinvar/367291 ^@ NM_017662.4(TRPM6):c.*238G>A http://identifiers.org/clinvar/366791 ^@ NM_003995.3(NPR2):c.2643+10A>G http://identifiers.org/clinvar/303343 ^@ NM_152722.4(HEPACAM):c.-82T>C http://identifiers.org/clinvar/303393 ^@ NM_016952.4(CDON):c.*3133A>T http://identifiers.org/clinvar/311441 ^@ NM_002010.2(FGF9):c.*372A>T http://identifiers.org/clinvar/311491 ^@ NM_014363.5(SACS):c.*1051_*1055delCTTTA http://identifiers.org/clinvar/367420 ^@ NM_033305.2(VPS13A):c.8212-15G>A http://identifiers.org/clinvar/303493 ^@ NM_016952.4(CDON):c.3297C>T (p.Ala1099=) http://identifiers.org/clinvar/366891 ^@ NM_001042413.1(GLIS3):c.*3336_*3337delAT http://identifiers.org/clinvar/303543 ^@ NM_017547.3(FOXRED1):c.952C>T (p.Pro318Ser) http://identifiers.org/clinvar/367620 ^@ NM_000264.3(PTCH1):c.*3209T>C http://identifiers.org/clinvar/367041 ^@ NM_004170.5(SLC1A1):c.311T>C (p.Ile104Thr) http://identifiers.org/clinvar/311891 ^@ NM_001127217.2(SMAD9):c.*94_*95delAT http://identifiers.org/clinvar/367191 ^@ NM_000170.2(GLDC):c.1483-15G>C http://identifiers.org/clinvar/312041 ^@ NM_207361.5(FREM2):c.9418A>G (p.Ser3140Gly) http://identifiers.org/clinvar/312191 ^@ NM_014252.3(SLC25A15):c.*610G>T http://identifiers.org/clinvar/367470 ^@ NM_058179.3(PSAT1):c.*865C>G http://identifiers.org/clinvar/312391 ^@ NM_000053.3(ATP7B):c.1278C>T (p.Val426=) http://identifiers.org/clinvar/298765 ^@ NM_005445.3(SMC3):c.723+4A>T http://identifiers.org/clinvar/312491 ^@ NM_052910.2(SLITRK1):c.*575C>T http://identifiers.org/clinvar/312641 ^@ NM_001376.4(DYNC1H1):c.8304G>A (p.Pro2768=) http://identifiers.org/clinvar/298815 ^@ NM_001134363.2(RBM20):c.*513A>T http://identifiers.org/clinvar/298865 ^@ NM_007373.3(SHOC2):c.*164T>A http://identifiers.org/clinvar/364201 ^@ NM_033087.3(ALG2):c.*196A>G http://identifiers.org/clinvar/298515 ^@ NM_021830.4(TWNK):c.*574C>T http://identifiers.org/clinvar/312991 ^@ NM_000359.2(TGM1):c.319+15T>C http://identifiers.org/clinvar/298565 ^@ NM_016169.3(SUFU):c.-163A>G http://identifiers.org/clinvar/298615 ^@ NM_000102.3(CYP17A1):c.*165dupT http://identifiers.org/clinvar/298665 ^@ NM_017649.4(CNNM2):c.*879G>A http://identifiers.org/clinvar/299065 ^@ NM_001609.3(ACADSB):c.-87G>T http://identifiers.org/clinvar/299165 ^@ NM_000274.3(OAT):c.*189A>G http://identifiers.org/clinvar/299215 ^@ NM_021980.4(OPTN):c.573A>G (p.Ser191=) http://identifiers.org/clinvar/298965 ^@ NM_004281.3(BAG3):c.*31C>T http://identifiers.org/clinvar/304932 ^@ NM_000107.2(DDB2):c.*151C>A http://identifiers.org/clinvar/299115 ^@ NM_001609.3(ACADSB):c.*1682T>C http://identifiers.org/clinvar/313980 ^@ NM_000021.3(PSEN1):c.*2161G>A http://identifiers.org/clinvar/314030 ^@ NM_031427.3(DNAL1):c.*500G>A http://identifiers.org/clinvar/305234 ^@ NM_144585.3(SLC22A12):c.564G>A (p.Thr188=) http://identifiers.org/clinvar/314180 ^@ NM_005589.3(ALDH6A1):c.414A>G (p.Val138=) http://identifiers.org/clinvar/299854 ^@ NM_021252.4(RAB18):c.*2375A>G http://identifiers.org/clinvar/314380 ^@ NM_001040108.1(MLH3):c.2987G>A (p.Gly996Glu) http://identifiers.org/clinvar/314430 ^@ NM_017791.2(FLVCR2):c.*1085T>G http://identifiers.org/clinvar/314530 ^@ NM_013382.5(POMT2):c.*1265T>G http://identifiers.org/clinvar/300004 ^@ NM_000124.3(ERCC6):c.*1981dupT http://identifiers.org/clinvar/314580 ^@ NM_004863.3(SPTLC2):c.*4948A>C http://identifiers.org/clinvar/305634 ^@ NM_000920.3(PC):c.75C>T (p.Ala25=) http://identifiers.org/clinvar/314680 ^@ NM_004863.3(SPTLC2):c.162A>C (p.Leu54=) http://identifiers.org/clinvar/300154 ^@ NM_033056.3(PCDH15):c.*512G>C http://identifiers.org/clinvar/314930 ^@ NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) http://identifiers.org/clinvar/315030 ^@ NM_000295.4(SERPINA1):c.206C>T (p.Ser69Phe) http://identifiers.org/clinvar/305934 ^@ NM_001360.2(DHCR7):c.*765G>A http://identifiers.org/clinvar/306097 ^@ NM_001235.3(SERPINH1):c.298G>A (p.Glu100Lys) http://identifiers.org/clinvar/300454 ^@ NM_022124.5(CDH23):c.7362+14G>A http://identifiers.org/clinvar/300554 ^@ NM_004273.4(CHST3):c.-51G>A http://identifiers.org/clinvar/300204 ^@ NM_033056.3(PCDH15):c.466G>C (p.Val156Leu) http://identifiers.org/clinvar/300254 ^@ NM_000417.2(IL2RA):c.656-14T>A http://identifiers.org/clinvar/317720 ^@ NM_000246.3(CIITA):c.2834A>C (p.Glu945Ala) http://identifiers.org/clinvar/311341 ^@ NM_021954.3(GJA3):c.852C>G (p.Ala284=) http://identifiers.org/clinvar/329692 ^@ NM_000554.5(CRX):c.-39G>C http://identifiers.org/clinvar/329742 ^@ NM_000554.5(CRX):c.*1455T>A http://identifiers.org/clinvar/311541 ^@ NM_014363.5(SACS):c.5222C>T (p.Thr1741Ile) http://identifiers.org/clinvar/329942 ^@ NM_024729.3(MYH14):c.4558G>A (p.Glu1520Lys) http://identifiers.org/clinvar/330092 ^@ NM_015629.3(PRPF31):c.-9+14A>G http://identifiers.org/clinvar/311741 ^@ NM_015087.4(SPG20):c.*2150_*2154delAGGTA http://identifiers.org/clinvar/318711 ^@ NM_001042432.1(CLN3):c.*155A>C http://identifiers.org/clinvar/318761 ^@ NM_003321.4(TUFM):c.-81G>C http://identifiers.org/clinvar/318961 ^@ NM_001330.3(CTF1):c.*282C>T http://identifiers.org/clinvar/319061 ^@ NM_003041.3(SLC5A2):c.1269G>T (p.Leu423=) http://identifiers.org/clinvar/312241 ^@ NM_003701.3(TNFSF11):c.*152A>G http://identifiers.org/clinvar/337928 ^@ NM_198994.2(TGM6):c.1452C>T (p.Asp484=) http://identifiers.org/clinvar/319361 ^@ NM_000293.2(PHKB):c.3144+12dupG http://identifiers.org/clinvar/319461 ^@ NM_022162.2(NOD2):c.2174C>G (p.Ala725Gly) http://identifiers.org/clinvar/319512 ^@ NM_015247.2(CYLD):c.*403T>C http://identifiers.org/clinvar/338128 ^@ NM_015338.5(ASXL1):c.*547C>T http://identifiers.org/clinvar/338178 ^@ NM_006892.3(DNMT3B):c.1878C>T (p.Asn626=) http://identifiers.org/clinvar/338228 ^@ NM_003098.2(SNTA1):c.-261C>A http://identifiers.org/clinvar/312591 ^@ NM_005708.4(GPC6):c.*2299A>G http://identifiers.org/clinvar/319662 ^@ NM_015272.4(RPGRIP1L):c.1584G>A (p.Met528Ile) http://identifiers.org/clinvar/338328 ^@ NM_015474.3(SAMHD1):c.*1008C>G http://identifiers.org/clinvar/338378 ^@ NM_005461.4(MAFB):c.*1679C>T http://identifiers.org/clinvar/319812 ^@ NM_001043.3(SLC6A2):c.*72C>T http://identifiers.org/clinvar/319912 ^@ NM_000339.2(SLC12A3):c.2160C>T (p.Gly720=) http://identifiers.org/clinvar/338628 ^@ NM_030777.3(SLC2A10):c.*1858T>G http://identifiers.org/clinvar/338728 ^@ NM_006420.2(ARFGEF2):c.*1846C>T http://identifiers.org/clinvar/338779 ^@ NM_020436.4(SALL4):c.609C>A (p.Ala203=) http://identifiers.org/clinvar/313041 ^@ NM_025152.2(NUBPL):c.*537dupA http://identifiers.org/clinvar/339129 ^@ NM_207034.2(EDN3):c.*96G>A http://identifiers.org/clinvar/311841 ^@ NM_001127217.2(SMAD9):c.*2387A>G http://identifiers.org/clinvar/311941 ^@ NM_207361.5(FREM2):c.736G>A (p.Gly246Arg) http://identifiers.org/clinvar/312091 ^@ NM_207361.5(FREM2):c.*4686G>T http://identifiers.org/clinvar/321451 ^@ NM_002386.3(MC1R):c.*380C>G http://identifiers.org/clinvar/321501 ^@ NM_000833.4(GRIN2A):c.*6609T>C http://identifiers.org/clinvar/314080 ^@ NM_031427.3(DNAL1):c.*3653C>T http://identifiers.org/clinvar/312441 ^@ NM_006493.2(CLN5):c.*1279G>C http://identifiers.org/clinvar/312541 ^@ NM_005708.4(GPC6):c.991A>T (p.Met331Leu) http://identifiers.org/clinvar/367870 ^@ NM_002351.4(SH2D1A):c.-74T>A http://identifiers.org/clinvar/327253 ^@ NM_001083962.1(TCF4):c.*3868_*3870delAAA http://identifiers.org/clinvar/327303 ^@ NM_001083962.1(TCF4):c.990+12T>A http://identifiers.org/clinvar/327403 ^@ NM_000140.3(FECH):c.*1170T>A http://identifiers.org/clinvar/327603 ^@ NM_133459.3(CCBE1):c.*3805T>C http://identifiers.org/clinvar/327653 ^@ NM_133459.3(CCBE1):c.*2051C>A http://identifiers.org/clinvar/327703 ^@ NM_133459.3(CCBE1):c.1058A>G (p.Gln353Arg) http://identifiers.org/clinvar/329592 ^@ NM_025136.3(OPA3):c.*4919_*4921delAGT http://identifiers.org/clinvar/327803 ^@ NM_005786.5(TSHZ1):c.381G>A (p.Thr127=) http://identifiers.org/clinvar/329892 ^@ NM_007254.3(PNKP):c.1387-11G>A http://identifiers.org/clinvar/328003 ^@ NM_001005360.2(DNM2):c.*106T>C http://identifiers.org/clinvar/330242 ^@ NM_175614.4(NDUFA11):c.-201_-200delCT http://identifiers.org/clinvar/330292 ^@ NM_000064.3(C3):c.3671G>A (p.Gly1224Asp) http://identifiers.org/clinvar/330392 ^@ NM_000208.3(INSR):c.*2160G>T http://identifiers.org/clinvar/330592 ^@ NM_030957.3(ADAMTS10):c.2005G>T (p.Val669Leu) http://identifiers.org/clinvar/337978 ^@ NM_014588.5(VSX1):c.-261_-252delGTGGGGTGGG http://identifiers.org/clinvar/329242 ^@ NM_016941.3(DLL3):c.*186A>G http://identifiers.org/clinvar/338278 ^@ NM_000687.3(AHCY):c.219+8C>T http://identifiers.org/clinvar/329642 ^@ NM_025136.3(OPA3):c.*2469G>A http://identifiers.org/clinvar/338678 ^@ NM_006420.2(ARFGEF2):c.-60C>T http://identifiers.org/clinvar/338829 ^@ NM_000782.4(CYP24A1):c.604G>C (p.Asp202His) http://identifiers.org/clinvar/329792 ^@ NM_002103.4(GYS1):c.*908G>A http://identifiers.org/clinvar/338929 ^@ NM_004738.4(VAPB):c.30C>T (p.Leu10=) http://identifiers.org/clinvar/329842 ^@ NM_017636.3(TRPM4):c.250G>A (p.Gly84Ser) http://identifiers.org/clinvar/339079 ^@ NM_001001433.2(STX16):c.*1746C>T http://identifiers.org/clinvar/330042 ^@ NM_144687.3(NLRP12):c.550G>A (p.Ala184Thr) http://identifiers.org/clinvar/330192 ^@ NM_003283.5(TNNT1):c.750+15C>T http://identifiers.org/clinvar/330342 ^@ NM_000064.3(C3):c.-28C>G http://identifiers.org/clinvar/330442 ^@ NM_000208.3(INSR):c.3571C>T (p.Arg1191Trp) http://identifiers.org/clinvar/330492 ^@ NM_020533.2(MCOLN1):c.610C>T (p.Pro204Ser) http://identifiers.org/clinvar/338078 ^@ NM_015338.5(ASXL1):c.502A>T (p.Met168Leu) http://identifiers.org/clinvar/340769 ^@ NM_017929.5(PEX26):c.*754A>G http://identifiers.org/clinvar/340819 ^@ NM_017929.5(PEX26):c.*2807_*2808delTT http://identifiers.org/clinvar/340869 ^@ NM_004782.3(SNAP29):c.*1667G>A http://identifiers.org/clinvar/340919 ^@ NM_003073.4(SMARCB1):c.*116dupG http://identifiers.org/clinvar/338879 ^@ NM_002591.3(PCK1):c.550G>C (p.Val184Leu) http://identifiers.org/clinvar/340969 ^@ NM_022081.5(HPS4):c.*1359A>T http://identifiers.org/clinvar/341269 ^@ NM_000343.3(SLC5A1):c.*183G>C http://identifiers.org/clinvar/341369 ^@ NM_000362.4(TIMP3):c.*1700_*1703delGTCT http://identifiers.org/clinvar/341419 ^@ NM_004737.5(LARGE1):c.*798G>A http://identifiers.org/clinvar/341619 ^@ NM_006941.3(SOX10):c.585C>T (p.Ala195=) http://identifiers.org/clinvar/341669 ^@ NM_022098.3(XPNPEP3):c.970-9T>C http://identifiers.org/clinvar/341719 ^@ NM_022098.3(XPNPEP3):c.*2779C>T http://identifiers.org/clinvar/341919 ^@ NM_000262.2(NAGA):c.-496G>C http://identifiers.org/clinvar/392698 ^@ NM_000739.2(CHRM2):c.-49A>T http://identifiers.org/clinvar/391209 ^@ NM_001497.3(B4GALT1):c.1065-12T>A http://identifiers.org/clinvar/380524 ^@ NM_024740.2(ALG9):c.132-18T>G http://identifiers.org/clinvar/381526 ^@ NM_001885.2(CRYAB):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/381676 ^@ NM_015570.3(AUTS2):c.2636A>T (p.His879Leu) http://identifiers.org/clinvar/390959 ^@ NM_004612.3(TGFBR1):c.1460G>T (p.Arg487Leu) http://identifiers.org/clinvar/378581 ^@ NM_007373.3(SHOC2):c.*16C>A http://identifiers.org/clinvar/378983 ^@ NM_000051.3(ATM):c.3994-12G>A http://identifiers.org/clinvar/393148 ^@ NM_152722.4(HEPACAM):c.977C>A (p.Ala326Asp) http://identifiers.org/clinvar/379233 ^@ NM_002834.4(PTPN11):c.137+49A>T http://identifiers.org/clinvar/385321 ^@ NM_006231.3(POLE):c.1089C>T (p.Asn363=) http://identifiers.org/clinvar/392898 ^@ NM_003482.3(KMT2D):c.16012T>C (p.Cys5338Arg) http://identifiers.org/clinvar/391509 ^@ NM_001844.4(COL2A1):c.2818C>T (p.Arg940Ter) http://identifiers.org/clinvar/393048 ^@ NM_000138.4(FBN1):c.7204G>C (p.Asp2402His) http://identifiers.org/clinvar/384671 ^@ NM_144670.5(A2ML1):c.4020A>G (p.Gln1340=) http://identifiers.org/clinvar/390759 ^@ NM_001376.4(DYNC1H1):c.5316T>C (p.Gly1772=) http://identifiers.org/clinvar/388570 ^@ NM_001376.4(DYNC1H1):c.7896G>A (p.Leu2632=) http://identifiers.org/clinvar/388520 ^@ NM_001376.4(DYNC1H1):c.12684+19A>G http://identifiers.org/clinvar/380926 ^@ NM_014844.4(TECPR2):c.-20A>C http://identifiers.org/clinvar/378480 ^@ NM_024570.3(RNASEH2B):c.189A>G (p.Val63=) http://identifiers.org/clinvar/379083 ^@ NM_000218.2(KCNQ1):c.804C>T (p.Ile268=) http://identifiers.org/clinvar/381376 ^@ NM_000257.3(MYH7):c.2472C>G (p.Val824=) http://identifiers.org/clinvar/385421 ^@ NM_000137.2(FAH):c.553+10C>T http://identifiers.org/clinvar/381426 ^@ NM_024678.5(NARS2):c.252-5T>C http://identifiers.org/clinvar/388320 ^@ NM_015272.4(RPGRIP1L):c.-28A>T http://identifiers.org/clinvar/385071 ^@ NM_030962.3(SBF2):c.5037+12A>G http://identifiers.org/clinvar/392748 ^@ NM_016373.3(WWOX):c.856G>A (p.Asp286Asn) http://identifiers.org/clinvar/390659 ^@ NM_000548.4(TSC2):c.336+8C>T http://identifiers.org/clinvar/384821 ^@ NM_020778.4(ALPK3):c.4670C>A (p.Ala1557Asp) http://identifiers.org/clinvar/48 ^@ NM_001199107.1(TBC1D24):c.439G>C (p.Asp147His) http://identifiers.org/clinvar/430 ^@ NM_001042631.2(SDHAF1):c.164G>C (p.Arg55Pro) http://identifiers.org/clinvar/630 ^@ NM_000277.1(PAH):c.140C>T (p.Ala47Val) http://identifiers.org/clinvar/671 ^@ NM_000312.3(PROC):c.814C>T (p.Arg272Cys) http://identifiers.org/clinvar/880 ^@ NM_000046.3(ARSB):c.1214G>A (p.Cys405Tyr) http://identifiers.org/clinvar/921 ^@ nsv513766 http://identifiers.org/clinvar/945 ^@ NM_000404.3(GLB1):c.176G>A (p.Arg59His) http://identifiers.org/clinvar/1003 ^@ NM_152778.2(MFSD8):c.894T>G (p.Tyr298Ter) http://identifiers.org/clinvar/1012 ^@ FGD4, 893T-G http://identifiers.org/clinvar/1021 ^@ NM_001077525.2(MTMR14):c.1385A>G (p.Tyr462Cys) http://identifiers.org/clinvar/2870 ^@ NM_001171507.2(MCFD2):c.387C>G (p.Asp129Glu) http://identifiers.org/clinvar/3295 ^@ NM_000268.3(NF2):c.1396C>T (p.Arg466Ter) http://identifiers.org/clinvar/10165 ^@ NM_000132.3(F8):c.296T>A (p.Val99Asp) http://identifiers.org/clinvar/10255 ^@ F8, 2-BP, INS, FS http://identifiers.org/clinvar/10842 ^@ NM_000054.4(AVPR2):c.213G>A (p.Trp71Ter) http://identifiers.org/clinvar/10888 ^@ PDHA1, 13-BP INS, EX10 http://identifiers.org/clinvar/258846 ^@ NM_002863.4(PYGL):c.664G>A (p.Val222Ile) http://identifiers.org/clinvar/36653 ^@ NM_033118.3(MYLK2):c.595A>G (p.Ile199Val) http://identifiers.org/clinvar/36706 ^@ NM_002769.4(PRSS1):c.738T= (p.Asn246=) http://identifiers.org/clinvar/36759 ^@ NM_198056.2(SCN5A):c.2976C>T (p.Pro992=) http://identifiers.org/clinvar/36809 ^@ NM_000545.6(HNF1A):c.169delC (p.Leu57Trpfs) http://identifiers.org/clinvar/36859 ^@ NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) http://identifiers.org/clinvar/36910 ^@ NM_000377.2(WAS):c.310C>T (p.Gln104Ter) http://identifiers.org/clinvar/37005 ^@ NSUN2, IVS5AS, G-C, -1 http://identifiers.org/clinvar/37085 ^@ NM_001135599.3(TGFB2):c.1097C>A (p.Pro366His) http://identifiers.org/clinvar/37171 ^@ NM_005630.2(SLCO2A1):c.310G>T (p.Gly104Ter) http://identifiers.org/clinvar/37300 ^@ NM_006516.2(SLC2A1):c.634C>T (p.Arg212Cys) http://identifiers.org/clinvar/37384 ^@ NM_005732.3(RAD50):c.3879C>T (p.Ile1293=) http://identifiers.org/clinvar/37435 ^@ NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) http://identifiers.org/clinvar/37487 ^@ NM_007294.3(BRCA1):c.2735A>G (p.Lys912Arg) http://identifiers.org/clinvar/37545 ^@ NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) http://identifiers.org/clinvar/37598 ^@ NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) http://identifiers.org/clinvar/37863 ^@ NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) http://identifiers.org/clinvar/37917 ^@ NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) http://identifiers.org/clinvar/37971 ^@ NM_000059.3(BRCA2):c.551T>C (p.Leu184Pro) http://identifiers.org/clinvar/38022 ^@ NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) http://identifiers.org/clinvar/38076 ^@ NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter) http://identifiers.org/clinvar/51166 ^@ NM_000059.3(BRCA2):c.1647G>A (p.Lys549=) http://identifiers.org/clinvar/51217 ^@ NM_000059.3(BRCA2):c.1855dupC (p.Gln619Profs) http://identifiers.org/clinvar/51269 ^@ NM_000059.3(BRCA2):c.231T>G (p.Thr77=) http://identifiers.org/clinvar/51320 ^@ NM_000059.3(BRCA2):c.263T>G (p.Leu88Arg) http://identifiers.org/clinvar/51575 ^@ NM_000059.3(BRCA2):c.3965A>C (p.Asn1322Thr) http://identifiers.org/clinvar/51627 ^@ NM_000059.3(BRCA2):c.4285C>T (p.Gln1429Ter) http://identifiers.org/clinvar/51677 ^@ NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) http://identifiers.org/clinvar/51729 ^@ NM_000059.3(BRCA2):c.4856A>G (p.Asn1619Ser) http://identifiers.org/clinvar/51781 ^@ NM_000059.3(BRCA2):c.5158dupT (p.Ser1720Phefs) http://identifiers.org/clinvar/51832 ^@ NM_000059.3(BRCA2):c.5272A>G (p.Asn1758Asp) http://identifiers.org/clinvar/51885 ^@ NM_000059.3(BRCA2):c.5585_5588delTGAA (p.Val1862Glufs) http://identifiers.org/clinvar/51937 ^@ NM_000059.3(BRCA2):c.5789T>A (p.Leu1930Ter) http://identifiers.org/clinvar/51988 ^@ NM_000059.3(BRCA2):c.6018T>A (p.Ser2006Arg) http://identifiers.org/clinvar/52040 ^@ NM_000059.3(BRCA2):c.623T>G (p.Val208Gly) http://identifiers.org/clinvar/52092 ^@ NM_000059.3(BRCA2):c.6428delC (p.Ser2143Terfs) http://identifiers.org/clinvar/52145 ^@ NM_000059.3(BRCA2):c.6643delT (p.Tyr2215Thrfs) http://identifiers.org/clinvar/52195 ^@ NM_000059.3(BRCA2):c.681+9A>G http://identifiers.org/clinvar/52246 ^@ NM_000059.3(BRCA2):c.7008-2A>T http://identifiers.org/clinvar/52297 ^@ NM_000059.3(BRCA2):c.7241C>T (p.Ser2414Leu) http://identifiers.org/clinvar/52347 ^@ NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) http://identifiers.org/clinvar/52398 ^@ NM_000059.3(BRCA2):c.7751G>A (p.Gly2584Asp) http://identifiers.org/clinvar/52448 ^@ NM_000059.3(BRCA2):c.7961T>C (p.Leu2654Pro) http://identifiers.org/clinvar/52498 ^@ NM_000059.3(BRCA2):c.8072_8073delCT (p.Ser2691Terfs) http://identifiers.org/clinvar/52549 ^@ NM_000059.3(BRCA2):c.8330_8331delAG (p.Lys2777Asnfs) http://identifiers.org/clinvar/52599 ^@ NM_000059.3(BRCA2):c.8482A>G (p.Ile2828Val) http://identifiers.org/clinvar/52651 ^@ NM_000059.3(BRCA2):c.8663G>A (p.Arg2888His) http://identifiers.org/clinvar/52701 ^@ NM_000059.3(BRCA2):c.8915delT (p.Leu2972Cysfs) http://identifiers.org/clinvar/52752 ^@ NM_000059.3(BRCA2):c.9109C>T (p.Gln3037Ter) http://identifiers.org/clinvar/52803 ^@ NM_000059.3(BRCA2):c.9276T>G (p.Tyr3092Ter) http://identifiers.org/clinvar/52854 ^@ NM_000059.3(BRCA2):c.9501+4A>G http://identifiers.org/clinvar/52904 ^@ NM_000059.3(BRCA2):c.9828A>T (p.Arg3276Ser) http://identifiers.org/clinvar/52954 ^@ NM_000218.2(KCNQ1):c.1087C>A (p.His363Asn) http://identifiers.org/clinvar/53004 ^@ NM_000218.2(KCNQ1):c.1686-1G>A http://identifiers.org/clinvar/53054 ^@ NM_000218.2(KCNQ1):c.504delG (p.Thr169Argfs) http://identifiers.org/clinvar/53708 ^@ NM_000492.3(CFTR):c.3293G>A (p.Trp1098Ter) http://identifiers.org/clinvar/53758 ^@ NM_000492.3(CFTR):c.3481A>C (p.Ser1161Arg) http://identifiers.org/clinvar/53811 ^@ NM_000492.3(CFTR):c.3774dupG (p.Arg1259Glufs) http://identifiers.org/clinvar/53863 ^@ NM_000492.3(CFTR):c.3964-28G>A http://identifiers.org/clinvar/53914 ^@ NM_000492.3(CFTR):c.4193T>G (p.Ile1398Ser) http://identifiers.org/clinvar/53964 ^@ NM_000492.3(CFTR):c.481T>A (p.Tyr161Asn) http://identifiers.org/clinvar/54014 ^@ NM_000492.3(CFTR):c.580-1G>T http://identifiers.org/clinvar/54064 ^@ NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) http://identifiers.org/clinvar/54116 ^@ NM_007294.3(BRCA1):c.1068_1077delGAAACTGCCA (p.Gln356Hisfs) http://identifiers.org/clinvar/54166 ^@ NM_007294.3(BRCA1):c.122A>G (p.His41Arg) http://identifiers.org/clinvar/54216 ^@ NM_007294.3(BRCA1):c.135-6T>G http://identifiers.org/clinvar/54266 ^@ NM_007294.3(BRCA1):c.1483_1498del16 (p.Glu495Ilefs) http://identifiers.org/clinvar/54317 ^@ NM_007294.3(BRCA1):c.1648_1860del213 (p.Asn550_Ile620del) http://identifiers.org/clinvar/54368 ^@ NM_007294.3(BRCA1):c.1837delA (p.Arg613Glyfs) http://identifiers.org/clinvar/54418 ^@ NM_007294.3(BRCA1):c.1963T>G (p.Tyr655Asp) http://identifiers.org/clinvar/54468 ^@ NM_007294.3(BRCA1):c.2120G>A (p.Gly707Asp) http://identifiers.org/clinvar/54518 ^@ NM_007294.3(BRCA1):c.2268G>C (p.Arg756Ser) http://identifiers.org/clinvar/54568 ^@ NM_007294.3(BRCA1):c.2429delA (p.Asn810Thrfs) http://identifiers.org/clinvar/54618 ^@ NM_007294.3(BRCA1):c.2612C>A (p.Pro871Gln) http://identifiers.org/clinvar/54668 ^@ NM_007294.3(BRCA1):c.2744_2745delCT (p.Ser915Terfs) http://identifiers.org/clinvar/54718 ^@ NM_007294.3(BRCA1):c.2920_2921delTT (p.Leu974Thrfs) http://identifiers.org/clinvar/54768 ^@ NM_007294.3(BRCA1):c.3084_3094delTAATAACATTA (p.Asn1029Argfs) http://identifiers.org/clinvar/54818 ^@ NM_007294.3(BRCA1):c.3286C>T (p.Gln1096Ter) http://identifiers.org/clinvar/54868 ^@ NM_007294.3(BRCA1):c.3403C>T (p.Gln1135Ter) http://identifiers.org/clinvar/54918 ^@ NM_007294.3(BRCA1):c.3569_3570delCT (p.Pro1190Glnfs) http://identifiers.org/clinvar/54970 ^@ NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) http://identifiers.org/clinvar/55021 ^@ NM_007294.3(BRCA1):c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs) http://identifiers.org/clinvar/55071 ^@ NM_007294.3(BRCA1):c.399_400delTG (p.Ala134Glnfs) http://identifiers.org/clinvar/56493 ^@ NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) http://identifiers.org/clinvar/56544 ^@ NM_006493.2(CLN5):c.671G>A (p.Trp224Ter) http://identifiers.org/clinvar/56597 ^@ NM_017739.3(POMGNT1):c.25dupC (p.Leu9Profs) http://identifiers.org/clinvar/56652 ^@ NM_017890.4(VPS13B):c.22_23delCCinsA (p.Pro8Lysfs) http://identifiers.org/clinvar/56702 ^@ NM_017890.4(VPS13B):c.9731delA (p.Tyr3244Phefs) http://identifiers.org/clinvar/56752 ^@ NM_030943.3(AMN):c.295delG (p.Gly99Alafs) http://identifiers.org/clinvar/56829 ^@ NM_001010867.3(IBA57):c.941A>C (p.Gln314Pro) http://identifiers.org/clinvar/57012 ^@ GRCh38/hg38 8p23.3(chr8:241530-764384)x1 http://identifiers.org/clinvar/57065 ^@ GRCh38/hg38 6q16.3(chr6:102026630-102674870)x1 http://identifiers.org/clinvar/57121 ^@ GRCh38/hg38 13q34(chr13:114192458-114293545)x3 http://identifiers.org/clinvar/57172 ^@ GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1 http://identifiers.org/clinvar/57224 ^@ GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 http://identifiers.org/clinvar/57277 ^@ GRCh38/hg38 5q13.2(chr5:70436365-71090773)x1 http://identifiers.org/clinvar/57330 ^@ GRCh38/hg38 20p12.1(chr20:14453727-14818511)x1 http://identifiers.org/clinvar/57383 ^@ GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3 http://identifiers.org/clinvar/101200 ^@ NM_000090.3(COL3A1):c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL) http://identifiers.org/clinvar/101250 ^@ NM_000090.3(COL3A1):c.3364-2A>C (p.Gly1122_Arg1139del) http://identifiers.org/clinvar/101300 ^@ NP_000081.1:p.Gly588_Thr623del http://identifiers.org/clinvar/101350 ^@ NM_000090.3(COL3A1):c.1761+2T>G (p.Gly555_Asp587del) http://identifiers.org/clinvar/101400 ^@ NM_000090.3(COL3A1):c.2142_2168del27 (p.Pro715_Gly723del) http://identifiers.org/clinvar/101450 ^@ NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys) http://identifiers.org/clinvar/101502 ^@ NM_014740.3(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10] http://identifiers.org/clinvar/102463 ^@ NM_000277.1(PAH):c.-71A>C http://identifiers.org/clinvar/102515 ^@ NM_000277.1(PAH):c.1084C>A (p.Pro362Thr) http://identifiers.org/clinvar/102571 ^@ NM_000277.1(PAH):c.1229T>C (p.Phe410Ser) http://identifiers.org/clinvar/102623 ^@ NM_000277.1(PAH):c.194T>A (p.Ile65Asn) http://identifiers.org/clinvar/102678 ^@ NM_000277.1(PAH):c.442-?_509+?del http://identifiers.org/clinvar/102728 ^@ NM_000277.1(PAH):c.533A>T (p.Glu178Val) http://identifiers.org/clinvar/102779 ^@ NM_000277.1(PAH):c.673C>A (p.Pro225Thr) http://identifiers.org/clinvar/102829 ^@ NM_000277.1(PAH):c.770G>A (p.Gly257Asp) http://identifiers.org/clinvar/125632 ^@ NM_007294.3(BRCA1):c.3462dupA (p.Asp1155Argfs) http://identifiers.org/clinvar/125700 ^@ NM_007294.3(BRCA1):c.4285_4286insG (p.Tyr1429Terfs) http://identifiers.org/clinvar/125763 ^@ NM_007294.3(BRCA1):c.5098delA (p.Thr1700Hisfs) http://identifiers.org/clinvar/126159 ^@ U43746.1:n.8034-16T>C http://identifiers.org/clinvar/126277 ^@ NM_015272.4(RPGRIP1L):c.3073G>A (p.Gly1025Ser) http://identifiers.org/clinvar/126328 ^@ NM_020732.3(ARID1B):c.363A>G (p.Gln121=) http://identifiers.org/clinvar/126384 ^@ NM_016381.5(TREX1):c.377_378dupTG (p.Ala127Trpfs) http://identifiers.org/clinvar/126448 ^@ NM_020949.2(SLC7A14):c.1391G>T (p.Cys464Phe) http://identifiers.org/clinvar/126508 ^@ NM_000387.5(SLC25A20):c.106-2A>T http://identifiers.org/clinvar/126589 ^@ NM_024675.3(PALB2):c.1095G>C (p.Arg365Ser) http://identifiers.org/clinvar/126640 ^@ NM_024675.3(PALB2):c.2200A>T (p.Thr734Ser) http://identifiers.org/clinvar/126691 ^@ NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) http://identifiers.org/clinvar/126741 ^@ NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro) http://identifiers.org/clinvar/126792 ^@ NM_000321.2(RB1):c.1961-2A>T http://identifiers.org/clinvar/159476 ^@ NM_002547.2(OPHN1):c.2159-4C>T http://identifiers.org/clinvar/161334 ^@ NM_000312.3(PROC):c.1201G>A (p.Asp401Asn) http://identifiers.org/clinvar/161284 ^@ NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) http://identifiers.org/clinvar/161753 ^@ NM_021955.4(GNGT1):c.96+1G>A http://identifiers.org/clinvar/161803 ^@ NM_138424.1(KIF12):c.1284-4C>A http://identifiers.org/clinvar/161703 ^@ NM_016835.4(MAPT):c.100G>T (p.Asp34Tyr) http://identifiers.org/clinvar/161853 ^@ NM_198512.2(DGAT2L6):c.769C>A (p.Leu257Met) http://identifiers.org/clinvar/162029 ^@ NM_005411.4(SFTPA1):c.667C>A (p.Gln223Lys) http://identifiers.org/clinvar/162087 ^@ NM_000834.3(GRIN2B):c.1619G>A (p.Arg540His) http://identifiers.org/clinvar/162152 ^@ NM_001396.3(DYRK1A):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/162215 ^@ NM_198271.4(LMOD3):c.138dupC (p.Ser47Glnfs) http://identifiers.org/clinvar/162416 ^@ NM_170707.3(LMNA):c.1968+5G>C http://identifiers.org/clinvar/162497 ^@ NM_004006.2(DMD):c.1812+1G>A http://identifiers.org/clinvar/162571 ^@ NM_001079802.1(FKTN):c.1181T>C (p.Phe394Ser) http://identifiers.org/clinvar/179122 ^@ NM_206933.2(USH2A):c.15546C>T (p.Asn5182=) http://identifiers.org/clinvar/162823 ^@ NM_001232.3(CASQ2):c.19T>C (p.Phe7Leu) http://identifiers.org/clinvar/165705 ^@ NM_133378.4(TTN):c.88264G>A (p.Val29422Met) http://identifiers.org/clinvar/166010 ^@ NM_133378.4(TTN):c.42324G>A (p.Glu14108=) http://identifiers.org/clinvar/165959 ^@ NM_133378.4(TTN):c.49168G>A (p.Asp16390Asn) http://identifiers.org/clinvar/178653 ^@ NM_206933.2(USH2A):c.2880T>C (p.Asn960=) http://identifiers.org/clinvar/166516 ^@ NM_206933.2(USH2A):c.2541C>A (p.Cys847Ter) http://identifiers.org/clinvar/165865 ^@ NM_001256850.1(TTN):c.64194T>A (p.Asp21398Glu) http://identifiers.org/clinvar/166265 ^@ NM_001256850.1(TTN):c.10360+3769C>A http://identifiers.org/clinvar/179422 ^@ NM_133378.4(TTN):c.34342G>A (p.Gly11448Ser) http://identifiers.org/clinvar/166161 ^@ NM_133378.4(TTN):c.19482T>C (p.Asp6494=) http://identifiers.org/clinvar/166315 ^@ NM_133378.4(TTN):c.5373C>A (p.Thr1791=) http://identifiers.org/clinvar/165445 ^@ NM_017849.3(TMEM127):c.308delG (p.Gly103Alafs) http://identifiers.org/clinvar/163133 ^@ NM_001369.2(DNAH5):c.12910-11C>T http://identifiers.org/clinvar/179372 ^@ NM_198056.2(SCN5A):c.5786G>A (p.Arg1929His) http://identifiers.org/clinvar/179322 ^@ NM_001080476.2(GRXCR1):c.234T>C (p.Asp78=) http://identifiers.org/clinvar/166603 ^@ NM_006005.3(WFS1):c.2103C>T (p.Thr701=) http://identifiers.org/clinvar/178922 ^@ NM_004415.3(DSP):c.4419C>T (p.Ala1473=) http://identifiers.org/clinvar/163406 ^@ NM_000118.3(ENG):c.1096G>C (p.Asp366His) http://identifiers.org/clinvar/163289 ^@ NM_004415.3(DSP):c.8191T>C (p.Tyr2731His) http://identifiers.org/clinvar/178721 ^@ NM_001277115.1(DNAH11):c.54C>T (p.Thr18=) http://identifiers.org/clinvar/179172 ^@ NM_032119.3(ADGRV1):c.9590T>C (p.Leu3197Ser) http://identifiers.org/clinvar/163591 ^@ NM_032119.3(ADGRV1):c.9888G>A (p.Gly3296=) http://identifiers.org/clinvar/179072 ^@ NM_032119.3(ADGRV1):c.14427A>G (p.Glu4809=) http://identifiers.org/clinvar/198730 ^@ NM_000443.3(ABCB4):c.833+6G>A http://identifiers.org/clinvar/198784 ^@ NM_003322.5(TULP1):c.725_728delCCAA (p.Pro242Glnfs) http://identifiers.org/clinvar/198837 ^@ NM_006005.3(WFS1):c.2181C>T (p.Ile727=) http://identifiers.org/clinvar/198891 ^@ NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) http://identifiers.org/clinvar/198944 ^@ NM_001267550.2(TTN):c.24023T>A (p.Val8008Asp) http://identifiers.org/clinvar/198995 ^@ NM_000180.3(GUCY2D):c.1773delC (p.Asn591Lysfs) http://identifiers.org/clinvar/199046 ^@ NM_001017995.2(SH3PXD2B):c.785+4C>G http://identifiers.org/clinvar/199099 ^@ NM_004562.2(PRKN):c.1017G>A (p.Ala339=) http://identifiers.org/clinvar/199151 ^@ NM_018328.4(MBD5):c.1638C>T (p.Ala546=) http://identifiers.org/clinvar/199202 ^@ NM_213599.2(ANO5):c.766C>G (p.Gln256Glu) http://identifiers.org/clinvar/199258 ^@ DOCK2, 2-BP INS http://identifiers.org/clinvar/201580 ^@ NM_198056.2(SCN5A):c.2023+2T>A http://identifiers.org/clinvar/200214 ^@ NM_000238.3(KCNH2):c.558C>T (p.Gly186=) http://identifiers.org/clinvar/200155 ^@ NM_000138.4(FBN1):c.2701delT (p.Ser901Glnfs) http://identifiers.org/clinvar/201638 ^@ NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) http://identifiers.org/clinvar/201913 ^@ NM_144573.3(NEXN):c.687+20delT http://identifiers.org/clinvar/202085 ^@ NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) http://identifiers.org/clinvar/201858 ^@ NM_001080114.1(LDB3):c.523_524delCAinsAC (p.Gln175Thr) http://identifiers.org/clinvar/201694 ^@ NM_003476.4(CSRP3):c.229G>T (p.Ala77Ser) http://identifiers.org/clinvar/201966 ^@ NM_004572.3(PKP2):c.2522C>T (p.Ser841Phe) http://identifiers.org/clinvar/202027 ^@ NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) http://identifiers.org/clinvar/202141 ^@ NM_003276.2(TMPO):c.497C>A (p.Ser166Tyr) http://identifiers.org/clinvar/201804 ^@ NM_020433.4(JPH2):c.1896G>C (p.Glu632Asp) http://identifiers.org/clinvar/201749 ^@ NM_004006.2(DMD):c.5203C>T (p.Arg1735Cys) http://identifiers.org/clinvar/202196 ^@ NM_006516.2(SLC2A1):c.724C>T (p.Gln242Ter) http://identifiers.org/clinvar/203040 ^@ NM_001256850.1(TTN):c.93682C>T (p.Arg31228Cys) http://identifiers.org/clinvar/202425 ^@ NM_001256850.1(TTN):c.89239A>T (p.Arg29747Ter) http://identifiers.org/clinvar/202990 ^@ NM_001256850.1(TTN):c.87776A>G (p.Asn29259Ser) http://identifiers.org/clinvar/202940 ^@ NM_001256850.1(TTN):c.82513G>T (p.Val27505Phe) http://identifiers.org/clinvar/202480 ^@ NM_001256850.1(TTN):c.79136delT (p.Leu26379Hisfs) http://identifiers.org/clinvar/202890 ^@ NM_001256850.1(TTN):c.74002T>A (p.Ser24668Thr) http://identifiers.org/clinvar/202840 ^@ NM_001256850.1(TTN):c.67373C>T (p.Ala22458Val) http://identifiers.org/clinvar/232257 ^@ NM_000038.5(APC):c.5158delG (p.Glu1720Lysfs) http://identifiers.org/clinvar/232958 ^@ NM_005732.3(RAD50):c.1544A>G (p.Asp515Gly) http://identifiers.org/clinvar/233308 ^@ NM_005732.3(RAD50):c.1837A>G (p.Asn613Asp) http://identifiers.org/clinvar/233911 ^@ NM_005732.3(RAD50):c.1970-2A>G http://identifiers.org/clinvar/232908 ^@ NM_005732.3(RAD50):c.3001A>G (p.Met1001Val) http://identifiers.org/clinvar/233208 ^@ NM_000535.6(PMS2):c.2359A>T (p.Ile787Phe) http://identifiers.org/clinvar/233961 ^@ NM_002485.4(NBN):c.1315A>G (p.Ile439Val) http://identifiers.org/clinvar/233058 ^@ NM_000051.3(ATM):c.2245G>A (p.Ala749Thr) http://identifiers.org/clinvar/232858 ^@ NM_000051.3(ATM):c.3335dupC (p.Leu1113Phefs) http://identifiers.org/clinvar/232407 ^@ NM_000051.3(ATM):c.5428A>G (p.Thr1810Ala) http://identifiers.org/clinvar/233658 ^@ NM_000051.3(ATM):c.6411C>G (p.Asp2137Glu) http://identifiers.org/clinvar/233458 ^@ NM_000051.3(ATM):c.7562A>G (p.Tyr2521Cys) http://identifiers.org/clinvar/232608 ^@ NM_005591.3(MRE11):c.1807A>G (p.Thr603Ala) http://identifiers.org/clinvar/231568 ^@ NM_000059.3(BRCA2):c.2091A>C (p.Lys697Asn) http://identifiers.org/clinvar/232307 ^@ NM_000059.3(BRCA2):c.3070A>G (p.Ile1024Val) http://identifiers.org/clinvar/233108 ^@ NM_000059.3(BRCA2):c.8326T>A (p.Leu2776Ile) http://identifiers.org/clinvar/232207 ^@ NM_000059.3(BRCA2):c.9409A>G (p.Thr3137Ala) http://identifiers.org/clinvar/232457 ^@ NM_000059.3(BRCA2):c.9742A>C (p.Met3248Leu) http://identifiers.org/clinvar/233558 ^@ NM_000548.4(TSC2):c.2098-3C>T http://identifiers.org/clinvar/231318 ^@ NM_000548.4(TSC2):c.3981C>G (p.Asp1327Glu) http://identifiers.org/clinvar/232808 ^@ NM_004360.4(CDH1):c.111C>T (p.Tyr37=) http://identifiers.org/clinvar/234111 ^@ NM_001042492.2(NF1):c.1121A>T (p.Asp374Val) http://identifiers.org/clinvar/231468 ^@ NM_007294.3(BRCA1):c.3826T>C (p.Leu1276=) http://identifiers.org/clinvar/234011 ^@ NM_007294.3(BRCA1):c.3612A>G (p.Arg1204=) http://identifiers.org/clinvar/233408 ^@ NM_007294.3(BRCA1):c.442C>A (p.Gln148Lys) http://identifiers.org/clinvar/232557 ^@ NM_032043.2(BRIP1):c.3595C>G (p.Leu1199Val) http://identifiers.org/clinvar/231368 ^@ NM_032043.2(BRIP1):c.3188C>T (p.Ser1063Leu) http://identifiers.org/clinvar/233608 ^@ NM_032043.2(BRIP1):c.1759C>G (p.His587Asp) http://identifiers.org/clinvar/233008 ^@ NM_032043.2(BRIP1):c.610T>G (p.Ser204Ala) http://identifiers.org/clinvar/232507 ^@ NM_032043.2(BRIP1):c.320A>C (p.His107Pro) http://identifiers.org/clinvar/234061 ^@ NM_000546.5(TP53):c.569C>G (p.Pro190Arg) http://identifiers.org/clinvar/233358 ^@ NM_005359.5(SMAD4):c.90A>G (p.Gly30=) http://identifiers.org/clinvar/235025 ^@ NM_000257.3(MYH7):c.1204C>T (p.Pro402Ser) http://identifiers.org/clinvar/235075 ^@ NM_005270.4(GLI2):c.596dupG (p.Ala200Argfs) http://identifiers.org/clinvar/235210 ^@ NM_000168.5(GLI3):c.2424A>G (p.Ile808Met) http://identifiers.org/clinvar/235264 ^@ NM_000543.4(SMPD1):c.1763C>T (p.Thr588Met) http://identifiers.org/clinvar/235318 ^@ NC_012920.1:m.11899T>C http://identifiers.org/clinvar/235370 ^@ NC_012920.1:m.8803A>T http://identifiers.org/clinvar/235424 ^@ NM_014956.4(CEP164):c.1484C>G (p.Pro495Arg) http://identifiers.org/clinvar/235479 ^@ NM_018486.2(HDAC8):c.416G>C (p.Gly139Ala) http://identifiers.org/clinvar/235532 ^@ NM_000282.3(PCCA):c.1071G>T (p.Glu357Asp) http://identifiers.org/clinvar/235583 ^@ NM_000521.3(HEXB):c.449C>A (p.Thr150Asn) http://identifiers.org/clinvar/235633 ^@ NM_000352.4(ABCC8):c.3640C>T (p.Arg1214Trp) http://identifiers.org/clinvar/235687 ^@ NM_017651.4(AHI1):c.-55+1G>T http://identifiers.org/clinvar/235750 ^@ NM_000709.3(BCKDHA):c.836A>G (p.Tyr279Cys) http://identifiers.org/clinvar/235895 ^@ NM_014975.2(MAST1):c.278C>T (p.Ser93Leu) http://identifiers.org/clinvar/236107 ^@ NM_000350.2(ABCA4):c.3900A>G (p.Arg1300=) http://identifiers.org/clinvar/236157 ^@ NM_004621.5(TRPC6):c.2485-44A>G http://identifiers.org/clinvar/236225 ^@ NM_016111.3(TELO2):c.1100G>T (p.Cys367Phe) http://identifiers.org/clinvar/236295 ^@ NM_198578.3(LRRK2):c.5273A>C (p.His1758Pro) http://identifiers.org/clinvar/236346 ^@ NC_000002.10:g.51088030_51325532del237503 http://identifiers.org/clinvar/236396 ^@ NC_000015.9:g.22750305_23228712dup478408 http://identifiers.org/clinvar/236447 ^@ NM_001142800.1(EYS):c.1155T>A (p.Cys385Ter) http://identifiers.org/clinvar/236497 ^@ NM_018418.4(SPATA7):c.1058dupC (p.Ser354Phefs) http://identifiers.org/clinvar/236547 ^@ GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) http://identifiers.org/clinvar/240687 ^@ NM_006594.4(AP4B1):c.1744G>A (p.Glu582Lys) http://identifiers.org/clinvar/241037 ^@ NM_015284.3(SZT2):c.7104T>C (p.Pro2368=) http://identifiers.org/clinvar/238343 ^@ NM_001128425.1(MUTYH):c.179A>G (p.Glu60Gly) http://identifiers.org/clinvar/238693 ^@ NM_001267550.2(TTN):c.103476T>A (p.Ser34492Arg) http://identifiers.org/clinvar/238843 ^@ NM_001267550.2(TTN):c.75952A>G (p.Lys25318Glu) http://identifiers.org/clinvar/238793 ^@ NM_001267550.2(TTN):c.50858-9A>C http://identifiers.org/clinvar/238743 ^@ NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala) http://identifiers.org/clinvar/239144 ^@ NM_002354.2(EPCAM):c.904-2A>G http://identifiers.org/clinvar/240987 ^@ NM_015120.4(ALMS1):c.2124G>T (p.Gly708=) http://identifiers.org/clinvar/238593 ^@ NM_001148.4(ANK2):c.8673C>T (p.Pro2891=) http://identifiers.org/clinvar/240337 ^@ NM_006206.4(PDGFRA):c.2942G>A (p.Arg981His) http://identifiers.org/clinvar/236597 ^@ NM_000038.5(APC):c.4213G>A (p.Val1405Ile) http://identifiers.org/clinvar/242226 ^@ NM_198253.2(TERT):c.2355G>A (p.Pro785=) http://identifiers.org/clinvar/239094 ^@ NM_001999.3(FBN2):c.8365-4C>G http://identifiers.org/clinvar/240237 ^@ NM_005732.3(RAD50):c.3394A>G (p.Ile1132Val) http://identifiers.org/clinvar/240287 ^@ NM_006073.3(TRDN):c.502G>A (p.Glu168Lys) http://identifiers.org/clinvar/238643 ^@ NM_001206927.1(DNAH8):c.3419A>G (p.His1140Arg) http://identifiers.org/clinvar/238943 ^@ NM_001277115.1(DNAH11):c.9449G>A (p.Arg3150Gln) http://identifiers.org/clinvar/240937 ^@ NM_014855.2(AP5Z1):c.1585G>A (p.Ala529Thr) http://identifiers.org/clinvar/237893 ^@ NM_000535.6(PMS2):c.1790C>G (p.Thr597Ser) http://identifiers.org/clinvar/257996 ^@ NM_001369.2(DNAH5):c.12367C>T (p.His4123Tyr) http://identifiers.org/clinvar/258046 ^@ NM_001369.2(DNAH5):c.5484+17T>C http://identifiers.org/clinvar/259246 ^@ NM_004168.3(SDHA):c.456+20G>C http://identifiers.org/clinvar/256357 ^@ NM_000521.3(HEXB):c.300-46T>A http://identifiers.org/clinvar/256057 ^@ NM_000426.3(LAMA2):c.2376C>T (p.Phe792=) http://identifiers.org/clinvar/260836 ^@ NM_017651.4(AHI1):c.11-45T>C http://identifiers.org/clinvar/261136 ^@ NM_019105.6(TNXB):c.3482A>G (p.His1161Arg) http://identifiers.org/clinvar/260436 ^@ NM_014780.4(CUL7):c.2438A>G (p.Gln813Arg) http://identifiers.org/clinvar/260186 ^@ NM_012120.2(CD2AP):c.1632+8G>T http://identifiers.org/clinvar/258346 ^@ NM_001851.4(COL9A1):c.1612-26C>A http://identifiers.org/clinvar/259346 ^@ NM_004370.5(COL12A1):c.7698-19_7698-15delCTTTT http://identifiers.org/clinvar/256257 ^@ NM_000492.3(CFTR):c.927C>G (p.Ala309=) http://identifiers.org/clinvar/258146 ^@ NM_001458.4(FLNC):c.5298+6G>A http://identifiers.org/clinvar/257946 ^@ NM_001277115.1(DNAH11):c.9939G>A (p.Val3313=) http://identifiers.org/clinvar/260936 ^@ NM_017802.3(DNAAF5):c.596-17G>A http://identifiers.org/clinvar/256157 ^@ NM_000443.3(ABCB4):c.147C>T (p.Ser49=) http://identifiers.org/clinvar/259196 ^@ NM_003919.2(SGCE):c.1072C>T (p.Leu358=) http://identifiers.org/clinvar/258996 ^@ NM_003235.4(TG):c.5512G>A (p.Asp1838Asn) http://identifiers.org/clinvar/256707 ^@ NM_000553.4(WRN):c.1982-5delT http://identifiers.org/clinvar/261086 ^@ NM_019098.4(CNGB3):c.211+13T>G http://identifiers.org/clinvar/255507 ^@ NM_000197.1(HSD17B3):c.-39A>G http://identifiers.org/clinvar/261336 ^@ NM_020549.4(CHAT):c.438C>T (p.Tyr146=) http://identifiers.org/clinvar/260236 ^@ NM_012330.3(KAT6B):c.3231_3242delCGAGGAGGAGGA (p.Asp1077_Glu1080del) http://identifiers.org/clinvar/256107 ^@ NM_000429.2(MAT1A):c.882T>C (p.Ala294=) http://identifiers.org/clinvar/260486 ^@ NM_014956.4(CEP164):c.3716C>T (p.Pro1239Leu) http://identifiers.org/clinvar/259446 ^@ NM_004588.4(SCN2B):c.449-12C>A http://identifiers.org/clinvar/260786 ^@ NM_016952.4(CDON):c.2362+49C>A http://identifiers.org/clinvar/257596 ^@ NM_001173991.2(TMEM216):c.220C>T (p.Leu74=) http://identifiers.org/clinvar/257496 ^@ NM_001122955.3(BSCL2):c.1006-50T>G http://identifiers.org/clinvar/261236 ^@ NM_020376.3(PNPLA2):c.1442T>C (p.Leu481Pro) http://identifiers.org/clinvar/255957 ^@ NM_000372.4(TYR):c.178C>T (p.Leu60=) http://identifiers.org/clinvar/260686 ^@ NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) http://identifiers.org/clinvar/261186 ^@ NM_019844.3(SLCO1B3):c.699G>A (p.Met233Ile) http://identifiers.org/clinvar/258196 ^@ NM_001843.3(CNTN1):c.2711-17A>G http://identifiers.org/clinvar/255757 ^@ NM_000289.5(PFKM):c.2093-14A>G http://identifiers.org/clinvar/256657 ^@ NM_000552.4(VWF):c.1946-17_1946-15dupTCT http://identifiers.org/clinvar/257546 ^@ NM_001131025.1(PEX5):c.1632G>A (p.Ala544=) http://identifiers.org/clinvar/258246 ^@ NM_001845.5(COL4A1):c.1257T>C (p.Pro419=) http://identifiers.org/clinvar/256307 ^@ NM_000504.3(F10):c.232-17T>C http://identifiers.org/clinvar/261386 ^@ NM_020937.3(FANCM):c.4378A>G (p.Ile1460Val) http://identifiers.org/clinvar/261036 ^@ NM_018648.3(NOP10):c.55-15G>C http://identifiers.org/clinvar/332492 ^@ NM_002148.3(HOXD10):c.*47G>T http://identifiers.org/clinvar/332981 ^@ NM_201548.4(CERKL):c.*1159C>T http://identifiers.org/clinvar/333131 ^@ NM_000393.4(COL5A2):c.3668C>T (p.Pro1223Leu) http://identifiers.org/clinvar/333231 ^@ NM_005259.2(MSTN):c.*135G>A http://identifiers.org/clinvar/333031 ^@ NM_002500.4(NEUROD1):c.*548T>A http://identifiers.org/clinvar/333081 ^@ NM_000090.3(COL3A1):c.*371G>T http://identifiers.org/clinvar/336400 ^@ NM_002354.2(EPCAM):c.-221G>A http://identifiers.org/clinvar/336450 ^@ NM_000233.3(LHCGR):c.*360G>A http://identifiers.org/clinvar/333281 ^@ NM_007315.3(STAT1):c.1116T>C (p.Asn372=) http://identifiers.org/clinvar/336382 ^@ NM_139279.5(MCFD2):c.310-11G>C http://identifiers.org/clinvar/337339 ^@ NM_003896.3(ST3GAL5):c.84A>C (p.Ala28=) http://identifiers.org/clinvar/337539 ^@ NM_014014.4(SNRNP200):c.4728C>T (p.Ile1576=) http://identifiers.org/clinvar/337439 ^@ NM_144563.2(RPIA):c.*291delA http://identifiers.org/clinvar/337489 ^@ NM_017849.3(TMEM127):c.*1163C>T http://identifiers.org/clinvar/337589 ^@ NM_020184.3(CNNM4):c.1899G>A (p.Thr633=) http://identifiers.org/clinvar/337639 ^@ NM_001079.3(ZAP70):c.1832C>T (p.Thr611Ile) http://identifiers.org/clinvar/342269 ^@ NM_033084.4(FANCD2):c.1413+14T>C http://identifiers.org/clinvar/342319 ^@ NM_016247.3(IMPG2):c.*446G>A http://identifiers.org/clinvar/342419 ^@ NM_000551.3(VHL):c.*816G>C http://identifiers.org/clinvar/342569 ^@ NM_198196.2(CD96):c.*1183T>A http://identifiers.org/clinvar/342619 ^@ NM_020754.3(ARHGAP31):c.-199C>T http://identifiers.org/clinvar/342719 ^@ NM_020754.3(ARHGAP31):c.*2689C>T http://identifiers.org/clinvar/342819 ^@ NM_000388.3(CASR):c.*1197C>G http://identifiers.org/clinvar/342869 ^@ NM_053025.3(MYLK):c.5224A>G (p.Arg1742Gly) http://identifiers.org/clinvar/343019 ^@ NM_000373.3(UMPS):c.*4078T>C http://identifiers.org/clinvar/343069 ^@ NM_025265.3(TSEN2):c.119T>G (p.Phe40Cys) http://identifiers.org/clinvar/343219 ^@ NM_000174.4(GP9):c.-16G>T http://identifiers.org/clinvar/350548 ^@ NM_001182.4(ALDH7A1):c.*1730C>T http://identifiers.org/clinvar/350698 ^@ NM_032446.2(MEGF10):c.*2106T>C http://identifiers.org/clinvar/350748 ^@ NM_001999.3(FBN2):c.*323dupT http://identifiers.org/clinvar/350898 ^@ NM_000358.2(TGFBI):c.*72T>C http://identifiers.org/clinvar/350948 ^@ NM_017415.2(KLHL3):c.*2472A>C http://identifiers.org/clinvar/351098 ^@ NM_022464.4(SIL1):c.196G>A (p.Val66Ile) http://identifiers.org/clinvar/355024 ^@ NM_014845.5(FIG4):c.-182G>A http://identifiers.org/clinvar/355125 ^@ NM_001010892.2(RSPH4A):c.2101G>C (p.Glu701Gln) http://identifiers.org/clinvar/355375 ^@ NM_006208.2(ENPP1):c.*910C>G http://identifiers.org/clinvar/351398 ^@ NM_054027.4(ANKH):c.*5895C>G http://identifiers.org/clinvar/351248 ^@ NM_002109.5(HARS):c.-126T>C http://identifiers.org/clinvar/351548 ^@ NM_006846.3(SPINK5):c.*78A>G http://identifiers.org/clinvar/355625 ^@ NM_003764.3(STX11):c.*1525A>G http://identifiers.org/clinvar/351748 ^@ NM_024577.3(SH3TC2):c.*8622delT http://identifiers.org/clinvar/355825 ^@ NM_033071.3(SYNE1):c.22068C>A (p.Ile7356=) http://identifiers.org/clinvar/351648 ^@ NM_024577.3(SH3TC2):c.*15489G>A http://identifiers.org/clinvar/351698 ^@ NM_024577.3(SH3TC2):c.*11054G>C http://identifiers.org/clinvar/359124 ^@ NM_000083.2(CLCN1):c.2545G>A (p.Ala849Thr) http://identifiers.org/clinvar/355975 ^@ NM_032122.4(DTNBP1):c.255G>T (p.Ala85=) http://identifiers.org/clinvar/359174 ^@ NM_014141.5(CNTNAP2):c.59G>A (p.Ser20Asn) http://identifiers.org/clinvar/359324 ^@ NM_016203.3(PRKAG2):c.*1029dupG http://identifiers.org/clinvar/352435 ^@ NM_000337.5(SGCD):c.*7219G>C http://identifiers.org/clinvar/352235 ^@ NM_001135243.1(TCOF1):c.4281G>T (p.Thr1427=) http://identifiers.org/clinvar/352285 ^@ NM_000405.4(GM2A):c.*1695C>A http://identifiers.org/clinvar/352335 ^@ NM_000337.5(SGCD):c.510G>A (p.Glu170=) http://identifiers.org/clinvar/352535 ^@ NM_001099287.1(NIPAL4):c.*782T>C http://identifiers.org/clinvar/352585 ^@ NM_000806.5(GABRA1):c.-441A>G http://identifiers.org/clinvar/352635 ^@ NM_000816.3(GABRG2):c.-104T>G http://identifiers.org/clinvar/352785 ^@ NM_001017995.2(SH3PXD2B):c.*754G>A http://identifiers.org/clinvar/352735 ^@ NM_001017995.2(SH3PXD2B):c.*4328C>T http://identifiers.org/clinvar/352985 ^@ NM_003052.4(SLC34A1):c.*485G>A http://identifiers.org/clinvar/352835 ^@ NM_002449.4(MSX2):c.-42C>T http://identifiers.org/clinvar/352885 ^@ NM_022455.4(NSD1):c.3657A>G (p.Thr1219=) http://identifiers.org/clinvar/352935 ^@ NM_022455.4(NSD1):c.*4344C>T http://identifiers.org/clinvar/360813 ^@ NM_005751.4(AKAP9):c.158A>G (p.His53Arg) http://identifiers.org/clinvar/360863 ^@ NM_194456.1(KRIT1):c.*1655T>G http://identifiers.org/clinvar/360913 ^@ NM_000466.2(PEX1):c.3566C>T (p.Thr1189Ile) http://identifiers.org/clinvar/353435 ^@ NM_023073.3(C5orf42):c.7417G>A (p.Glu2473Lys) http://identifiers.org/clinvar/361213 ^@ NM_178857.5(RP1L1):c.6718G>C (p.Glu2240Gln) http://identifiers.org/clinvar/361263 ^@ NM_178857.5(RP1L1):c.4837C>A (p.Leu1613Met) http://identifiers.org/clinvar/361313 ^@ NM_178857.5(RP1L1):c.3304G>C (p.Glu1102Gln) http://identifiers.org/clinvar/353335 ^@ NM_004172.4(SLC1A3):c.*465C>T http://identifiers.org/clinvar/361623 ^@ NM_014112.4(TRPS1):c.1456G>A (p.Asp486Asn) http://identifiers.org/clinvar/361773 ^@ NM_004519.3(KCNQ3):c.*6460C>T http://identifiers.org/clinvar/353535 ^@ NM_002310.5(LIFR):c.*5356A>G http://identifiers.org/clinvar/299815 ^@ NM_021252.4(RAB18):c.68+10A>G http://identifiers.org/clinvar/363812 ^@ NM_000318.2(PEX2):c.*103C>G http://identifiers.org/clinvar/363862 ^@ NM_019098.4(CNGB3):c.*206G>A http://identifiers.org/clinvar/363912 ^@ NM_002485.4(NBN):c.2258G>C (p.Arg753Thr) http://identifiers.org/clinvar/300065 ^@ NM_000124.3(ERCC6):c.2397T>C (p.Leu799=) http://identifiers.org/clinvar/300165 ^@ NM_033056.3(PCDH15):c.5864T>C (p.Leu1955Pro) http://identifiers.org/clinvar/306948 ^@ NM_018082.5(POLR3B):c.2905G>A (p.Val969Met) http://identifiers.org/clinvar/364462 ^@ NM_005502.3(ABCA1):c.352A>G (p.Lys118Glu) http://identifiers.org/clinvar/300365 ^@ NM_018344.5(SLC29A3):c.855G>A (p.Ser285=) http://identifiers.org/clinvar/364512 ^@ NM_001079802.1(FKTN):c.*3046T>C http://identifiers.org/clinvar/300465 ^@ NM_022124.5(CDH23):c.8824G>A (p.Asp2942Asn) http://identifiers.org/clinvar/300565 ^@ NM_004273.4(CHST3):c.1003G>A (p.Glu335Lys) http://identifiers.org/clinvar/300665 ^@ NM_004273.4(CHST3):c.*4162A>G http://identifiers.org/clinvar/307648 ^@ NM_004064.4(CDKN1B):c.-411T>C http://identifiers.org/clinvar/308348 ^@ NM_139241.3(FGD4):c.*3482G>T http://identifiers.org/clinvar/308448 ^@ NM_001040436.2(YARS2):c.*126_*127delAG http://identifiers.org/clinvar/301304 ^@ NM_033100.3(CDHR1):c.*2226C>T http://identifiers.org/clinvar/301554 ^@ NM_000235.3(LIPA):c.*939G>A http://identifiers.org/clinvar/301704 ^@ NM_016341.3(PLCE1):c.2352C>T (p.Asp784=) http://identifiers.org/clinvar/301904 ^@ NM_004621.5(TRPC6):c.1886G>C (p.Arg629Thr) http://identifiers.org/clinvar/365751 ^@ NM_000093.4(COL5A1):c.*424A>G http://identifiers.org/clinvar/365801 ^@ NM_014564.4(LHX3):c.*790C>T http://identifiers.org/clinvar/365851 ^@ NM_052813.4(CARD9):c.508G>A (p.Ala170Thr) http://identifiers.org/clinvar/365902 ^@ NM_006412.3(AGPAT2):c.*514A>C http://identifiers.org/clinvar/366352 ^@ NM_003383.4(VLDLR):c.-69A>G http://identifiers.org/clinvar/366402 ^@ NM_133497.3(KCNV2):c.-64T>G http://identifiers.org/clinvar/366452 ^@ NM_000459.4(TEK):c.3153G>C (p.Leu1051=) http://identifiers.org/clinvar/302404 ^@ NM_024740.2(ALG9):c.*1679dupT http://identifiers.org/clinvar/302554 ^@ NM_001558.3(IL10RA):c.1051A>G (p.Arg351Gly) http://identifiers.org/clinvar/366302 ^@ NM_002451.3(MTAP):c.*2873C>T http://identifiers.org/clinvar/310852 ^@ NM_000282.3(PCCA):c.*57_*60delTCAC http://identifiers.org/clinvar/366602 ^@ NM_001497.3(B4GALT1):c.*2569G>C http://identifiers.org/clinvar/340429 ^@ NM_006657.2(FTCD):c.643C>T (p.Arg215Cys) http://identifiers.org/clinvar/340479 ^@ NM_006031.5(PCNT):c.2677G>A (p.Ala893Thr) http://identifiers.org/clinvar/340530 ^@ NM_006031.5(PCNT):c.7836C>T (p.Asp2612=) http://identifiers.org/clinvar/340680 ^@ NM_014339.6(IL17RA):c.*3194delT http://identifiers.org/clinvar/340730 ^@ NM_014339.6(IL17RA):c.*5468T>C http://identifiers.org/clinvar/314641 ^@ NM_004863.3(SPTLC2):c.*1440G>T http://identifiers.org/clinvar/322276 ^@ NM_000430.3(PAFAH1B1):c.*863C>G http://identifiers.org/clinvar/340830 ^@ NM_004782.3(SNAP29):c.18A>G (p.Lys6=) http://identifiers.org/clinvar/322326 ^@ NM_000430.3(PAFAH1B1):c.*3438A>G http://identifiers.org/clinvar/322676 ^@ NM_145068.3(TRPV3):c.*3255G>A http://identifiers.org/clinvar/313241 ^@ NM_002408.3(MGAT2):c.-443C>T http://identifiers.org/clinvar/315280 ^@ NM_139057.3(ADAMTS17):c.1887C>T (p.Asp629=) http://identifiers.org/clinvar/315430 ^@ NM_022807.4(SNRPN):c.-819C>A http://identifiers.org/clinvar/315480 ^@ NM_002420.5(TRPM1):c.*571G>A http://identifiers.org/clinvar/313641 ^@ NM_182914.2(SYNE2):c.18429C>T (p.Asp6143=) http://identifiers.org/clinvar/315580 ^@ NM_133647.1(SLC12A6):c.*2039C>T http://identifiers.org/clinvar/342019 ^@ NM_018006.4(TRMU):c.1218C>T (p.Ser406=) http://identifiers.org/clinvar/313741 ^@ NM_000347.5(SPTB):c.3103C>T (p.Arg1035Trp) http://identifiers.org/clinvar/342069 ^@ NM_024105.3(ALG12):c.-231T>G http://identifiers.org/clinvar/313891 ^@ NM_015346.3(ZFYVE26):c.5080G>C (p.Ala1694Pro) http://identifiers.org/clinvar/313941 ^@ NM_000021.3(PSEN1):c.-214T>G http://identifiers.org/clinvar/313991 ^@ NM_000021.3(PSEN1):c.*2865C>A http://identifiers.org/clinvar/323765 ^@ NM_001193466.1(KANSL1):c.2751C>T (p.Phe917=) http://identifiers.org/clinvar/316280 ^@ NM_000338.2(SLC12A1):c.3096+7A>T http://identifiers.org/clinvar/314391 ^@ NM_001040108.1(MLH3):c.666G>A (p.Lys222=) http://identifiers.org/clinvar/324115 ^@ NM_000088.3(COL1A1):c.957+15C>T http://identifiers.org/clinvar/314441 ^@ NM_003239.4(TGFB3):c.*505G>A http://identifiers.org/clinvar/316430 ^@ NM_014985.3(CEP152):c.767T>C (p.Ile256Thr) http://identifiers.org/clinvar/324222 ^@ NM_015294.4(TRIM37):c.-419G>T http://identifiers.org/clinvar/324272 ^@ NM_018488.3(TBX4):c.*124_*137dupGTGTGTGTGTGTGT http://identifiers.org/clinvar/314541 ^@ NM_013382.5(POMT2):c.*606G>A http://identifiers.org/clinvar/316630 ^@ NM_004580.4(RAB27A):c.*1296T>G http://identifiers.org/clinvar/324474 ^@ NM_000334.4(SCN4A):c.*1689_*1690dupTG http://identifiers.org/clinvar/324524 ^@ NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) http://identifiers.org/clinvar/324624 ^@ NM_014336.4(AIPL1):c.-21A>G http://identifiers.org/clinvar/324824 ^@ NM_000891.2(KCNJ2):c.-258C>T http://identifiers.org/clinvar/324924 ^@ NM_000346.3(SOX9):c.*151C>T http://identifiers.org/clinvar/315530 ^@ NM_002420.5(TRPM1):c.904A>G (p.Ile302Val) http://identifiers.org/clinvar/315630 ^@ NM_018648.3(NOP10):c.*149G>A http://identifiers.org/clinvar/315880 ^@ NM_016013.3(NDUFAF1):c.-140C>T http://identifiers.org/clinvar/316030 ^@ NM_000119.2(EPB42):c.-51T>C http://identifiers.org/clinvar/316130 ^@ NM_014080.4(DUOX2):c.*432G>A http://identifiers.org/clinvar/316180 ^@ NM_014080.4(DUOX2):c.943+10C>A http://identifiers.org/clinvar/316230 ^@ NM_012388.3(BLOC1S6):c.*508G>C http://identifiers.org/clinvar/325814 ^@ NM_000199.3(SGSH):c.*848C>G http://identifiers.org/clinvar/316380 ^@ NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) http://identifiers.org/clinvar/372085 ^@ NM_020975.4(RET):c.337+29G>A http://identifiers.org/clinvar/371885 ^@ NM_000244.3(MEN1):c.670-5dupC http://identifiers.org/clinvar/371835 ^@ NM_006231.3(POLE):c.6657+16C>T http://identifiers.org/clinvar/371985 ^@ NM_007294.3(BRCA1):c.4675+11A>G http://identifiers.org/clinvar/371935 ^@ NM_007194.3(CHEK2):c.1008+13C>T http://identifiers.org/clinvar/372142 ^@ NM_001939.2(DRP2):c.1039C>T (p.Gln347Ter) http://identifiers.org/clinvar/372209 ^@ NM_013247.4(HTRA2):c.1211G>A (p.Arg404Gln) http://identifiers.org/clinvar/372268 ^@ NM_001098802.1(CEP78):c.499+5G>A http://identifiers.org/clinvar/373041 ^@ NM_020699.3(GATAD2B):c.1331delG (p.Cys444Leufs) http://identifiers.org/clinvar/372581 ^@ NM_025243.3(SLC19A3):c.1252C>G (p.Gln418Glu) http://identifiers.org/clinvar/372422 ^@ NM_005378.5(MYCN):c.1192C>T (p.Arg398Trp) http://identifiers.org/clinvar/373141 ^@ NM_000096.3(CP):c.147-2A>G http://identifiers.org/clinvar/372371 ^@ NM_000404.3(GLB1):c.841C>T (p.His281Tyr) http://identifiers.org/clinvar/372888 ^@ NM_133433.3(NIPBL):c.3410_3413delGAAG (p.Gly1137Glufs) http://identifiers.org/clinvar/373291 ^@ NM_001163435.2(TBCK):c.1771C>T (p.Gln591Ter) http://identifiers.org/clinvar/372735 ^@ NM_000089.3(COL1A2):c.983G>A (p.Gly328Asp) http://identifiers.org/clinvar/372837 ^@ NM_015093.5(TAB2):c.1195C>T (p.Gln399Ter) http://identifiers.org/clinvar/372941 ^@ NM_000722.3(CACNA2D1):c.1066A>G (p.Lys356Glu) http://identifiers.org/clinvar/372991 ^@ NM_016042.3(EXOSC3):c.80T>G (p.Val27Gly) http://identifiers.org/clinvar/372530 ^@ NM_000359.2(TGM1):c.398_407dupAGTATGAGTA (p.Tyr136Terfs) http://identifiers.org/clinvar/372785 ^@ NM_000546.5(TP53):c.731G>A (p.Gly244Asp) http://identifiers.org/clinvar/372477 ^@ NM_145239.2(PRRT2):c.1011C>T (p.Gly337=) http://identifiers.org/clinvar/373191 ^@ NM_000276.3(OCRL):c.1124A>G (p.His375Arg) http://identifiers.org/clinvar/372631 ^@ NM_000444.5(PHEX):c.1173+2T>C http://identifiers.org/clinvar/372683 ^@ NM_003688.3(CASK):c.1582G>A (p.Gly528Ser) http://identifiers.org/clinvar/373091 ^@ NM_004006.2(DMD):c.2168+1G>A http://identifiers.org/clinvar/372321 ^@ NM_000390.3(CHM):c.1019C>A (p.Ser340Ter) http://identifiers.org/clinvar/374625 ^@ NM_018051.4(WDR60):c.1721C>T (p.Thr574Ile) http://identifiers.org/clinvar/374675 ^@ NM_001127511.2(APC):c.2714G>C (p.Arg905Thr) http://identifiers.org/clinvar/374725 ^@ NM_002633.2(PGM1):c.1488T>C (p.Asp496=) http://identifiers.org/clinvar/374775 ^@ NM_004321.7(KIF1A):c.4036C>T (p.Arg1346Ter) http://identifiers.org/clinvar/374835 ^@ NM_007113.3(TCHH):c.991C>T (p.Gln331Ter) http://identifiers.org/clinvar/374885 ^@ NM_022469.3(GREM2):c.408G>T (p.Glu136Asp) http://identifiers.org/clinvar/374952 ^@ NM_000118.3(ENG):c.7C>T (p.Arg3Cys) http://identifiers.org/clinvar/375222 ^@ NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del http://identifiers.org/clinvar/375283 ^@ NM_005215.3(DCC):c.2414G>A (p.Gly805Glu) http://identifiers.org/clinvar/375337 ^@ NM_024876.3(COQ8B):c.1430G>A (p.Arg477Gln) http://identifiers.org/clinvar/375388 ^@ NM_003491.3(NAA10):c.215T>C (p.Ile72Thr) http://identifiers.org/clinvar/375443 ^@ NC_000004.12:g.(?_110618049)_(110622472_?)del http://identifiers.org/clinvar/375512 ^@ NM_001165963.1(SCN1A):c.682T>C (p.Ser228Pro) http://identifiers.org/clinvar/375569 ^@ NM_002335.3(LRP5):c.205G>T (p.Asp69Tyr) http://identifiers.org/clinvar/375629 ^@ NM_001396.4(DYRK1A):c.1491delC (p.Ala498Profs) http://identifiers.org/clinvar/375686 ^@ SCN1B, ARG125CYS http://identifiers.org/clinvar/375774 ^@ NM_000527.4(LDLR):c.126C>G (p.Tyr42Ter) http://identifiers.org/clinvar/375824 ^@ NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) http://identifiers.org/clinvar/375877 ^@ NM_002524.4(NRAS):c.38G>C (p.Gly13Ala) http://identifiers.org/clinvar/375927 ^@ NM_000222.2(KIT):c.2458G>C (p.Asp820His) http://identifiers.org/clinvar/390220 ^@ NM_015120.4(ALMS1):c.1240+2T>C http://identifiers.org/clinvar/380284 ^@ NM_000251.2(MSH2):c.2005+12G>C http://identifiers.org/clinvar/380735 ^@ NM_000393.4(COL5A2):c.1716+7A>G http://identifiers.org/clinvar/382428 ^@ NM_014362.3(HIBCH):c.735A>C (p.Glu245Asp) http://identifiers.org/clinvar/378286 ^@ NM_001135659.2(NRXN1):c.932-5T>G http://identifiers.org/clinvar/380987 ^@ NM_014049.4(ACAD9):c.150+8G>A http://identifiers.org/clinvar/383630 ^@ NM_020166.4(MCCC1):c.1860A>G (p.Leu620=) http://identifiers.org/clinvar/380034 ^@ NM_205847.2(GMPPA):c.1053C>G (p.Ala351=) http://identifiers.org/clinvar/391759 ^@ NM_053025.3(MYLK):c.2133G>A (p.Thr711=) http://identifiers.org/clinvar/390070 ^@ NM_014049.4(ACAD9):c.930C>T (p.Val310=) http://identifiers.org/clinvar/382328 ^@ NM_000179.2(MSH6):c.2494C>T (p.Leu832=) http://identifiers.org/clinvar/379783 ^@ NM_001904.3(CTNNB1):c.1580T>A (p.Leu527Ter) http://identifiers.org/clinvar/392859 ^@ NM_001135659.2(NRXN1):c.3485-109836G>A http://identifiers.org/clinvar/389920 ^@ NM_022455.4(NSD1):c.5106T>C (p.His1702=) http://identifiers.org/clinvar/380084 ^@ NM_002887.3(RARS):c.1368G>A (p.Ser456=) http://identifiers.org/clinvar/392609 ^@ NM_006514.3(SCN10A):c.1260G>A (p.Glu420=) http://identifiers.org/clinvar/382679 ^@ NM_005654.5(NR2F1):c.463+5A>G http://identifiers.org/clinvar/392459 ^@ NM_000426.3(LAMA2):c.2265G>A (p.Glu755=) http://identifiers.org/clinvar/383731 ^@ NM_002397.4(MEF2C):c.811-9T>G http://identifiers.org/clinvar/380786 ^@ NM_018341.2(ERMARD):c.858-10A>C http://identifiers.org/clinvar/380836 ^@ NM_002291.2(LAMB1):c.462C>T (p.Ser154=) http://identifiers.org/clinvar/384431 ^@ NM_033071.3(SYNE1):c.17134-16G>C http://identifiers.org/clinvar/392559 ^@ NM_000083.2(CLCN1):c.1815T>C (p.Val605=) http://identifiers.org/clinvar/389470 ^@ NM_000142.4(FGFR3):c.1645+17C>T http://identifiers.org/clinvar/388231 ^@ NM_080680.2(COL11A2):c.706C>T (p.Pro236Ser) http://identifiers.org/clinvar/384932 ^@ NM_002291.2(LAMB1):c.1137G>A (p.Pro379=) http://identifiers.org/clinvar/378944 ^@ NM_000238.3(KCNH2):c.3153-9C>T http://identifiers.org/clinvar/389770 ^@ NM_002291.2(LAMB1):c.3639C>T (p.Ile1213=) http://identifiers.org/clinvar/380435 ^@ NM_014141.5(CNTNAP2):c.1033G>A (p.Val345Ile) http://identifiers.org/clinvar/381927 ^@ NM_000535.6(PMS2):c.-27C>A http://identifiers.org/clinvar/381037 ^@ NM_020117.10(LARS):c.1738+15A>G http://identifiers.org/clinvar/382228 ^@ NM_024577.3(SH3TC2):c.831G>A (p.Thr277=) http://identifiers.org/clinvar/381977 ^@ NM_012210.3(TRIM32):c.699G>C (p.Val233=) http://identifiers.org/clinvar/378034 ^@ NM_004519.3(KCNQ3):c.834T>C (p.Leu278=) http://identifiers.org/clinvar/392159 ^@ NM_003863.3(DPM2):c.64A>G (p.Thr22Ala) http://identifiers.org/clinvar/378391 ^@ NM_000535.6(PMS2):c.*14A>G http://identifiers.org/clinvar/392409 ^@ NM_002310.5(LIFR):c.1516A>C (p.Thr506Pro) http://identifiers.org/clinvar/392809 ^@ NM_000093.4(COL5A1):c.2424C>T (p.Gly808=) http://identifiers.org/clinvar/382629 ^@ NM_024531.4(SLC52A2):c.835C>T (p.Leu279=) http://identifiers.org/clinvar/378236 ^@ NM_002485.4(NBN):c.995-17A>G http://identifiers.org/clinvar/389220 ^@ NM_007171.3(POMT1):c.1242-16G>A http://identifiers.org/clinvar/133566 ^@ NM_152641.3(ARID2):c.2428G>C (p.Ala810Pro) http://identifiers.org/clinvar/133616 ^@ NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) http://identifiers.org/clinvar/133666 ^@ NM_004656.3(BAP1):c.1735G>A (p.Gly579Arg) http://identifiers.org/clinvar/133716 ^@ NM_000057.3(BLM):c.1913A>C (p.Asn638Thr) http://identifiers.org/clinvar/133770 ^@ NM_001211.5(BUB1B):c.1879T>C (p.Ser627Pro) http://identifiers.org/clinvar/134020 ^@ NM_005228.4(EGFR):c.1534C>T (p.Pro512Ser) http://identifiers.org/clinvar/134072 ^@ NM_001005862.2(ERBB2):c.1266G>T (p.Trp422Cys) http://identifiers.org/clinvar/134122 ^@ NM_000122.1(ERCC3):c.2207G>T (p.Arg736Ile) http://identifiers.org/clinvar/134172 ^@ NM_000123.3(ERCC5):c.3157C= (p.Arg1053=) http://identifiers.org/clinvar/134222 ^@ NM_004456.4(EZH2):c.1459G>A (p.Ala487Thr) http://identifiers.org/clinvar/134273 ^@ NM_000135.2(FANCA):c.3792delC (p.Leu1265Terfs) http://identifiers.org/clinvar/134323 ^@ NM_001018115.2(FANCD2):c.3400C>T (p.Leu1134Phe) http://identifiers.org/clinvar/134374 ^@ NM_000043.5(FAS):c.580G>A (p.Glu194Lys) http://identifiers.org/clinvar/134424 ^@ NM_144997.5(FLCN):c.95G>A (p.Gly32Glu) http://identifiers.org/clinvar/134474 ^@ NM_001077488.3(GNAS):c.262G>A (p.Glu88Lys) http://identifiers.org/clinvar/134524 ^@ NM_002185.3(IL7R):c.149G>T (p.Gly50Val) http://identifiers.org/clinvar/134574 ^@ NM_000215.3(JAK3):c.2323C>T (p.Arg775Cys) http://identifiers.org/clinvar/134624 ^@ NM_000222.2(KIT):c.2361T>C (p.Asn787=) http://identifiers.org/clinvar/134676 ^@ NM_003482.3(KMT2D):c.5129C>T (p.Thr1710Met) http://identifiers.org/clinvar/134727 ^@ NM_003482.3(KMT2D):c.15011A>T (p.Glu5004Val) http://identifiers.org/clinvar/134777 ^@ NM_170606.2(KMT2C):c.8552C>G (p.Thr2851Ser) http://identifiers.org/clinvar/134828 ^@ NM_005373.2(MPL):c.622C>A (p.Gln208Lys) http://identifiers.org/clinvar/134881 ^@ NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) http://identifiers.org/clinvar/134931 ^@ NM_017617.4(NOTCH1):c.4014G>A (p.Ala1338=) http://identifiers.org/clinvar/134981 ^@ NM_024408.3(NOTCH2):c.6974A>G (p.Gln2325Arg) http://identifiers.org/clinvar/135031 ^@ NM_001015877.1(PHF6):c.487C>T (p.Arg163Cys) http://identifiers.org/clinvar/135133 ^@ NM_004260.3(RECQL4):c.1868G>A (p.Arg623His) http://identifiers.org/clinvar/135184 ^@ NM_020630.4(RET):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/135214 ^@ NM_014159.6(SETD2):c.2603A>G (p.Asp868Gly) http://identifiers.org/clinvar/135265 ^@ NM_005631.4(SMO):c.517C>T (p.Arg173Cys) http://identifiers.org/clinvar/135315 ^@ NM_001127208.2(TET2):c.521C>A (p.Pro174His) http://identifiers.org/clinvar/135365 ^@ NM_000368.4(TSC1):c.2221A>C (p.Lys741Gln) http://identifiers.org/clinvar/135416 ^@ NM_000553.4(WRN):c.1530A>T (p.Glu510Asp) http://identifiers.org/clinvar/135466 ^@ NM_004628.4(XPC):c.37G>C (p.Gly13Arg) http://identifiers.org/clinvar/135516 ^@ NM_005228.4(EGFR):c.2061+2T>C http://identifiers.org/clinvar/135567 ^@ NC_000002.12:g.47678251C>A http://identifiers.org/clinvar/135641 ^@ NM_003647.2(DGKE):c.966G>A (p.Trp322Ter) http://identifiers.org/clinvar/135701 ^@ NM_000038.5(APC):c.4249A>C (p.Ile1417Leu) http://identifiers.org/clinvar/187357 ^@ NM_001042492.2(NF1):c.8000C>T (p.Thr2667Ile) http://identifiers.org/clinvar/187257 ^@ NM_007294.3(BRCA1):c.2654dupT (p.Ser886Leufs) http://identifiers.org/clinvar/185316 ^@ NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) http://identifiers.org/clinvar/187707 ^@ NM_007294.3(BRCA1):c.271T>C (p.Cys91Arg) http://identifiers.org/clinvar/187457 ^@ NM_000546.5(TP53):c.97-3C>T http://identifiers.org/clinvar/185116 ^@ NM_005359.5(SMAD4):c.469_471delATG (p.Met157del) http://identifiers.org/clinvar/185866 ^@ NM_005359.5(SMAD4):c.535A>G (p.Ile179Val) http://identifiers.org/clinvar/185666 ^@ NM_000455.4(STK11):c.41A>G (p.Glu14Gly) http://identifiers.org/clinvar/185566 ^@ NM_007194.3(CHEK2):c.282T>C (p.Ala94=) http://identifiers.org/clinvar/187818 ^@ NM_139058.2(ARX):c.260G>C (p.Arg87Pro) http://identifiers.org/clinvar/187890 ^@ NM_005957.4(MTHFR):c.1114A>G (p.Lys372Glu) http://identifiers.org/clinvar/187940 ^@ NM_004409.4(DMPK):c.*224_*226[229] http://identifiers.org/clinvar/187990 ^@ NM_004409.4(DMPK):c.*224_*226[482] http://identifiers.org/clinvar/188040 ^@ NM_004409.4(DMPK):c.*224_*226[92] http://identifiers.org/clinvar/188351 ^@ NM_153240.4(NPHP3):c.3941G>C (p.Ser1314Thr) http://identifiers.org/clinvar/188142 ^@ NM_016599.4(MYOZ2):c.773T>A (p.Val258Glu) http://identifiers.org/clinvar/188090 ^@ NM_000059.3(BRCA2):c.4204A>C (p.Asn1402His) http://identifiers.org/clinvar/188298 ^@ NM_024675.3(PALB2):c.1659C>A (p.His553Gln) http://identifiers.org/clinvar/188510 ^@ NM_000249.3(MLH1):c.976delG (p.Val326Cysfs) http://identifiers.org/clinvar/188460 ^@ NM_004415.3(DSP):c.1419+27_1419+28delAA http://identifiers.org/clinvar/188560 ^@ NM_000256.3(MYBPC3):c.1897+28C>T http://identifiers.org/clinvar/188660 ^@ NM_004572.3(PKP2):c.2300-21delG http://identifiers.org/clinvar/188610 ^@ NM_000257.3(MYH7):c.1768A>G (p.Ile590Val) http://identifiers.org/clinvar/188408 ^@ NM_007294.3(BRCA1):c.1598A>G (p.Asn533Ser) http://identifiers.org/clinvar/189416 ^@ NM_000314.6(PTEN):c.-729C>G http://identifiers.org/clinvar/189476 ^@ NM_000314.6(PTEN):c.206A>G (p.Asn69Ser) http://identifiers.org/clinvar/189691 ^@ NM_004992.3(MECP2):c.(?_27)_(367_?)del (p.(?)) http://identifiers.org/clinvar/189741 ^@ NM_004992.3(MECP2):c.(?_1)_26+?dup http://identifiers.org/clinvar/189641 ^@ NM_001110792.1(MECP2):c.1084_1235del152 (p.Ser362Glnfs) http://identifiers.org/clinvar/189541 ^@ NM_003159.2(CDKL5):c.64+26G>A http://identifiers.org/clinvar/189591 ^@ NM_003159.2(CDKL5):c.464-1G>A http://identifiers.org/clinvar/189811 ^@ NM_212472.2(PRKAR1A):c.177+3A>G http://identifiers.org/clinvar/190025 ^@ NM_001165963.1(SCN1A):c.4829_4830dupTG (p.Val1611Trpfs) http://identifiers.org/clinvar/189975 ^@ NM_001165963.1(SCN1A):c.3106C>T (p.Gln1036Ter) http://identifiers.org/clinvar/189875 ^@ NM_001165963.1(SCN1A):c.474_602del129 (p.Thr160_Tyr202del) http://identifiers.org/clinvar/189925 ^@ NM_001165963.1(SCN1A):c.264+5G>C http://identifiers.org/clinvar/190211 ^@ NM_004628.4(XPC):c.1677C>A (p.Tyr559Ter) http://identifiers.org/clinvar/190160 ^@ NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter) http://identifiers.org/clinvar/190266 ^@ NM_000138.4(FBN1):c.1547G>A (p.Arg516Gln) http://identifiers.org/clinvar/190344 ^@ NM_002055.4(GFAP):c.715C>G (p.Arg239Gly) http://identifiers.org/clinvar/190405 ^@ NM_000257.3(MYH7):c.4763G>C (p.Arg1588Pro) http://identifiers.org/clinvar/226584 ^@ NM_001277115.1(DNAH11):c.2275-15G>T http://identifiers.org/clinvar/227286 ^@ NM_004403.2(DFNA5):c.934G>A (p.Asp312Asn) http://identifiers.org/clinvar/227336 ^@ NM_014908.3(DOLK):c.671A>T (p.Asp224Val) http://identifiers.org/clinvar/227666 ^@ NM_017433.4(MYO3A):c.3729G>A (p.Arg1243=) http://identifiers.org/clinvar/227716 ^@ NM_032578.3(MYPN):c.2028A>G (p.Gln676=) http://identifiers.org/clinvar/227235 ^@ NM_022124.5(CDH23):c.6786C>T (p.Asp2262=) http://identifiers.org/clinvar/226734 ^@ NM_002458.2(MUC5B):c.15721G>A (p.Ala5241Thr) http://identifiers.org/clinvar/227766 ^@ NM_001277269.1(OTOG):c.2134G>A (p.Ala712Thr) http://identifiers.org/clinvar/226884 ^@ NM_001277269.1(OTOG):c.3386C>T (p.Pro1129Leu) http://identifiers.org/clinvar/227566 ^@ NM_000256.3(MYBPC3):c.216C>A (p.Gly72=) http://identifiers.org/clinvar/226984 ^@ NM_012226.4(P2RX2):c.252T>C (p.Thr84=) http://identifiers.org/clinvar/228267 ^@ NM_004985.4(KRAS):c.211T>G (p.Tyr71Asp) http://identifiers.org/clinvar/227816 ^@ NM_173591.3(OTOGL):c.2601C>T (p.Asn867=) http://identifiers.org/clinvar/226934 ^@ NM_173591.3(OTOGL):c.2762+9A>G http://identifiers.org/clinvar/227386 ^@ NM_006783.4(GJB6):c.264G>A (p.Ala88=) http://identifiers.org/clinvar/227536 ^@ NM_002755.3(MAP2K1):c.292-4C>G http://identifiers.org/clinvar/226684 ^@ NM_001130089.1(KARS):c.685T>C (p.Tyr229His) http://identifiers.org/clinvar/226784 ^@ NM_016239.3(MYO15A):c.3413A>G (p.Gln1138Arg) http://identifiers.org/clinvar/226834 ^@ NM_003803.3(MYOM1):c.660T>C (p.Ser220=) http://identifiers.org/clinvar/227085 ^@ NM_001039876.2(SYNE4):c.363G>A (p.Gln121=) http://identifiers.org/clinvar/228017 ^@ NM_000363.4(TNNI3):c.150+13G>T http://identifiers.org/clinvar/227616 ^@ NM_002473.5(MYH9):c.5592+11T>C http://identifiers.org/clinvar/227486 ^@ NM_002294.2(LAMP2):c.813A>G (p.Leu271=) http://identifiers.org/clinvar/227135 ^@ NM_144991.2(TSPEAR):c.1915G>A (p.Asp639Asn) http://identifiers.org/clinvar/227185 ^@ NM_001692.3(ATP6V1B1):c.904C>A (p.Arg302=) http://identifiers.org/clinvar/231518 ^@ NM_000465.3(BARD1):c.311T>C (p.Met104Thr) http://identifiers.org/clinvar/233258 ^@ NM_000251.2(MSH2):c.810G>T (p.Leu270=) http://identifiers.org/clinvar/232658 ^@ NM_000251.2(MSH2):c.1645G>A (p.Val549Ile) http://identifiers.org/clinvar/233508 ^@ NM_000251.2(MSH2):c.2418C>T (p.Thr806=) http://identifiers.org/clinvar/233158 ^@ NM_000251.2(MSH2):c.2424A>G (p.Glu808=) http://identifiers.org/clinvar/231418 ^@ NM_000179.2(MSH6):c.1130A>G (p.Lys377Arg) http://identifiers.org/clinvar/232357 ^@ NM_000179.2(MSH6):c.1509C>G (p.Ser503=) http://identifiers.org/clinvar/232758 ^@ NM_000038.5(APC):c.531+1G>C http://identifiers.org/clinvar/232708 ^@ NM_000038.5(APC):c.628A>G (p.Met210Val) http://identifiers.org/clinvar/263943 ^@ NM_000214.2(JAG1):c.2286C>T (p.Asn762=) http://identifiers.org/clinvar/264143 ^@ NM_020433.4(JPH2):c.1794C>A (p.Ser598=) http://identifiers.org/clinvar/264043 ^@ NM_000071.2(CBS):c.1262C>A (p.Ala421Asp) http://identifiers.org/clinvar/264919 ^@ NM_000059.3(BRCA2):c.67+58A>C http://identifiers.org/clinvar/264969 ^@ NM_000059.3(BRCA2):c.9256+5598A>G http://identifiers.org/clinvar/265580 ^@ NM_000535.6(PMS2):c.537+1G>C http://identifiers.org/clinvar/265529 ^@ NM_001080449.2(DNA2):c.1643_1646delACAG (p.Asp548Glufs) http://identifiers.org/clinvar/265429 ^@ NM_001844.4(COL2A1):c.2833G>A (p.Gly945Ser) http://identifiers.org/clinvar/265479 ^@ NM_000153.3(GALC):c.749T>C (p.Ile250Thr) http://identifiers.org/clinvar/265279 ^@ NM_001018005.1(TPM1):c.98A>C (p.Glu33Ala) http://identifiers.org/clinvar/265329 ^@ NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) http://identifiers.org/clinvar/265379 ^@ NM_001042432.1(CLN3):c.240delG (p.Pro81Argfs) http://identifiers.org/clinvar/265680 ^@ NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) http://identifiers.org/clinvar/265630 ^@ NM_004006.2(DMD):c.9503delT (p.Leu3168Trpfs) http://identifiers.org/clinvar/265765 ^@ NM_021815.4(SLC5A7):c.143A>G (p.Asp48Gly) http://identifiers.org/clinvar/265869 ^@ NM_022068.3(PIEZO2):c.5054G>C (p.Arg1685Pro) http://identifiers.org/clinvar/265919 ^@ NM_174936.3(PCSK9):c.321C>T (p.Tyr107=) http://identifiers.org/clinvar/265973 ^@ NM_003611.2:c.2388+1G>C http://identifiers.org/clinvar/266025 ^@ NM_000308.3(CTSA):c.105_108delGCTGinsC (p.Leu37del) http://identifiers.org/clinvar/266101 ^@ NM_001080463.1(DYNC2H1):c.3638T>G (p.Leu1213Arg) http://identifiers.org/clinvar/266701 ^@ NM_000059.3(BRCA2):c.247G>T (p.Glu83Ter) http://identifiers.org/clinvar/266601 ^@ NM_000059.3(BRCA2):c.1023T>A (p.Cys341Ter) http://identifiers.org/clinvar/266651 ^@ NM_000059.3(BRCA2):c.1674_1680delTGATAAT (p.Ile558Metfs) http://identifiers.org/clinvar/266751 ^@ NM_000059.3(BRCA2):c.3451_3452delAT (p.Ile1151Leufs) http://identifiers.org/clinvar/266801 ^@ NM_000059.3(BRCA2):c.4304delA (p.Asn1435Ilefs) http://identifiers.org/clinvar/266851 ^@ NM_000059.3(BRCA2):c.5125_5129delGATTA (p.Asp1709Cysfs) http://identifiers.org/clinvar/266901 ^@ NM_000059.3(BRCA2):c.5855_5856insAGTT (p.Glu1953Valfs) http://identifiers.org/clinvar/266951 ^@ NM_000059.3(BRCA2):c.6485_6486delAA (p.Lys2162Thrfs) http://identifiers.org/clinvar/266551 ^@ NM_007294.3(BRCA1):c.5389dupT (p.Ser1797Phefs) http://identifiers.org/clinvar/266501 ^@ NM_007294.3(BRCA1):c.4878dupT (p.Ala1627Cysfs) http://identifiers.org/clinvar/266451 ^@ NM_007294.3(BRCA1):c.4137_4138delTG (p.Glu1380Argfs) http://identifiers.org/clinvar/266401 ^@ NM_007294.3(BRCA1):c.3731_3738delATAGCACC (p.His1244Argfs) http://identifiers.org/clinvar/266351 ^@ NM_007294.3(BRCA1):c.3282T>G (p.Tyr1094Ter) http://identifiers.org/clinvar/266301 ^@ NM_007294.3(BRCA1):c.2776_2777delAC (p.Thr926Cysfs) http://identifiers.org/clinvar/266251 ^@ NM_007294.3(BRCA1):c.2340_2343delGGAA (p.Glu781Valfs) http://identifiers.org/clinvar/266201 ^@ NM_007294.3(BRCA1):c.1918C>T (p.Gln640Ter) http://identifiers.org/clinvar/266151 ^@ NM_007294.3(BRCA1):c.1273dupT (p.Ser425Phefs) http://identifiers.org/clinvar/267647 ^@ NM_000059.3(BRCA2):c.476-4_476-1del http://identifiers.org/clinvar/267697 ^@ NM_000059.3(BRCA2):c.8487+2T>C http://identifiers.org/clinvar/267597 ^@ NM_007294.3(BRCA1):c.5332+1G>T http://identifiers.org/clinvar/267776 ^@ NM_006087.3(TUBB4A):c.716G>T (p.C239F) http://identifiers.org/clinvar/267826 ^@ 46;XY;ins(16;2)(q22.1;p16.2p21)pat http://identifiers.org/clinvar/267877 ^@ 46;XX;t(X;22)(q13;q13) http://identifiers.org/clinvar/267927 ^@ 46;XY;t(4;14)(p14;q11.2)dn http://identifiers.org/clinvar/267977 ^@ 46;XY;t(6;14)(q21;q32.1) http://identifiers.org/clinvar/268027 ^@ 46;XY;t(2;5)(q11.2;q33.1)dn http://identifiers.org/clinvar/268091 ^@ NM_005902.3(SMAD3):c.228G>T (p.Gln76His) http://identifiers.org/clinvar/268144 ^@ NM_005506.3:c.1116-2A>C http://identifiers.org/clinvar/268215 ^@ NM_000113.2(TOR1A):c.581A>T (p.Asp194Val) http://identifiers.org/clinvar/290930 ^@ NM_000023.3(SGCA):c.190G>A (p.Ala64Thr) http://identifiers.org/clinvar/290980 ^@ NM_206933.2(USH2A):c.12128T>G (p.Val4043Gly) http://identifiers.org/clinvar/291030 ^@ NM_182943.2(PLOD2):c.815C>T (p.Ser272Leu) http://identifiers.org/clinvar/291080 ^@ NM_022489.3(INF2):c.1227G>T (p.Ser409=) http://identifiers.org/clinvar/291130 ^@ NM_033071.3(SYNE1):c.20922A>G (p.Leu6974=) http://identifiers.org/clinvar/291181 ^@ NM_001793.5(CDH3):c.1085G>A (p.Trp362Ter) http://identifiers.org/clinvar/291231 ^@ NM_001080463.1(DYNC2H1):c.12664A>C (p.Ile4222Leu) http://identifiers.org/clinvar/291638 ^@ NM_015074.3(KIF1B):c.*3035G>A http://identifiers.org/clinvar/291688 ^@ NM_004565.2(PEX14):c.*755delC http://identifiers.org/clinvar/291738 ^@ NM_007375.3(TARDBP):c.675A>G (p.Pro225=) http://identifiers.org/clinvar/291788 ^@ NM_006610.3(MASP2):c.1064A>T (p.Asp355Val) http://identifiers.org/clinvar/291838 ^@ NM_003051.3(SLC16A1):c.*1051G>A http://identifiers.org/clinvar/291888 ^@ NM_013319.2(UBIAD1):c.*997C>T http://identifiers.org/clinvar/291938 ^@ NM_000036.2(AMPD1):c.133+8T>C http://identifiers.org/clinvar/292038 ^@ NM_138959.2(VANGL1):c.*1516A>C http://identifiers.org/clinvar/291988 ^@ NM_002506.2(NGF):c.477G>A (p.Val159=) http://identifiers.org/clinvar/292088 ^@ NM_138959.2(VANGL1):c.*5368G>A http://identifiers.org/clinvar/292588 ^@ NM_000396.3(CTSK):c.115A>T (p.Asn39Tyr) http://identifiers.org/clinvar/292538 ^@ NM_019032.5(ADAMTSL4):c.1777G>A (p.Val593Ile) http://identifiers.org/clinvar/293777 ^@ NM_022089.3(ATP13A2):c.2563G>A (p.Ala855Thr) http://identifiers.org/clinvar/293527 ^@ NM_006996.2(SLC19A2):c.639G>A (p.Lys213=) http://identifiers.org/clinvar/293577 ^@ NM_000130.4(F5):c.5788+4A>T http://identifiers.org/clinvar/293827 ^@ NM_018122.4(DARS2):c.1750+11T>C http://identifiers.org/clinvar/293677 ^@ NM_152281.2(GORAB):c.*1039A>G http://identifiers.org/clinvar/294027 ^@ NM_005562.2(LAMC2):c.*310G>A http://identifiers.org/clinvar/294127 ^@ NM_031935.2(HMCN1):c.3048+12A>G http://identifiers.org/clinvar/294327 ^@ NM_031935.2(HMCN1):c.*872C>T http://identifiers.org/clinvar/294477 ^@ NM_000186.3(CFH):c.-61A>G http://identifiers.org/clinvar/293477 ^@ NM_005149.2(TBX19):c.917-14G>A http://identifiers.org/clinvar/294527 ^@ NM_000186.3(CFH):c.*14G>A http://identifiers.org/clinvar/294577 ^@ NM_001994.2(F13B):c.1145A>G (p.Lys382Arg) http://identifiers.org/clinvar/293627 ^@ NM_000130.4(F5):c.1545C>T (p.Ile515=) http://identifiers.org/clinvar/294727 ^@ NM_000069.2(CACNA1S):c.3796-14C>T http://identifiers.org/clinvar/293727 ^@ NM_000639.2(FASLG):c.42G>C (p.Trp14Cys) http://identifiers.org/clinvar/293877 ^@ NM_033343.3(LHX4):c.*119T>C http://identifiers.org/clinvar/293927 ^@ NM_002065.6(GLUL):c.*717T>C http://identifiers.org/clinvar/343319 ^@ NM_014382.3(ATP2C1):c.135T>C (p.Gly45=) http://identifiers.org/clinvar/344258 ^@ NM_181426.1(CCDC39):c.*133A>T http://identifiers.org/clinvar/344608 ^@ NM_000461.4(THRB):c.*1750delA http://identifiers.org/clinvar/344808 ^@ NM_006371.4(CRTAP):c.583G>A (p.Glu195Lys) http://identifiers.org/clinvar/344908 ^@ NM_000249.3(MLH1):c.1524T>G (p.Ser508Arg) http://identifiers.org/clinvar/345258 ^@ NM_016006.4(ABHD5):c.*2137A>G http://identifiers.org/clinvar/344658 ^@ NM_003242.5(TGFBR2):c.690G>A (p.Thr230=) http://identifiers.org/clinvar/344758 ^@ NM_015141.3(GPD1L):c.*1472C>T http://identifiers.org/clinvar/344858 ^@ NM_006371.4(CRTAP):c.*2976C>T http://identifiers.org/clinvar/345158 ^@ NM_017875.2(SLC25A38):c.*490G>A http://identifiers.org/clinvar/337389 ^@ NM_004836.6(EIF2AK3):c.*898_*901delAATC http://identifiers.org/clinvar/345358 ^@ NM_020208.3(SLC6A20):c.*2244G>A http://identifiers.org/clinvar/342369 ^@ NM_033084.4(FANCD2):c.2581A>G (p.Lys861Glu) http://identifiers.org/clinvar/342519 ^@ NM_198196.2(CD96):c.177C>A (p.Ser59=) http://identifiers.org/clinvar/342469 ^@ NM_000551.3(VHL):c.*2468C>T http://identifiers.org/clinvar/342669 ^@ NM_020754.3(ARHGAP31):c.3615C>T (p.Pro1205=) http://identifiers.org/clinvar/342769 ^@ NM_001023570.3(IQCB1):c.1739A>C (p.Lys580Thr) http://identifiers.org/clinvar/342919 ^@ NM_015869.4(PPARG):c.-22C>T http://identifiers.org/clinvar/342969 ^@ NM_000373.3(UMPS):c.*2159C>T http://identifiers.org/clinvar/343169 ^@ NM_004637.5(RAB7A):c.*421_*423delGGT http://identifiers.org/clinvar/343119 ^@ NM_032638.4(GATA2):c.*570C>T http://identifiers.org/clinvar/343269 ^@ NM_052985.3(IFT122):c.3723G>T (p.Leu1241=) http://identifiers.org/clinvar/348257 ^@ NM_001151.3(SLC25A4):c.*671A>G http://identifiers.org/clinvar/353935 ^@ NM_001104631.1(PDE4D):c.*2999T>C http://identifiers.org/clinvar/353635 ^@ NM_002310.5(LIFR):c.143-13_143-10delGTGT http://identifiers.org/clinvar/354085 ^@ NM_001038603.2(MARVELD2):c.728A>G (p.Tyr243Cys) http://identifiers.org/clinvar/353985 ^@ NM_001104631.1(PDE4D):c.2259C>T (p.Gly753=) http://identifiers.org/clinvar/354035 ^@ NM_174889.4(NDUFAF2):c.196G>C (p.Asp66His) http://identifiers.org/clinvar/359024 ^@ NM_020632.2(ATP6V0A4):c.812T>A (p.Ile271Asn) http://identifiers.org/clinvar/359074 ^@ NM_018238.3(AGK):c.*463_*466dupGTTT http://identifiers.org/clinvar/359224 ^@ NM_014141.5(CNTNAP2):c.*1648A>C http://identifiers.org/clinvar/363312 ^@ NM_006269.1(RP1):c.6225A>C (p.Arg2075Ser) http://identifiers.org/clinvar/355175 ^@ NM_000165.4(GJA1):c.*694T>C http://identifiers.org/clinvar/355074 ^@ NM_000493.3(COL10A1):c.*653T>C http://identifiers.org/clinvar/363562 ^@ NM_024596.4(MCPH1):c.2294C>G (p.Ser765Trp) http://identifiers.org/clinvar/355325 ^@ NM_006208.2(ENPP1):c.154C>T (p.Pro52Ser) http://identifiers.org/clinvar/359774 ^@ NM_032581.3(FAM126A):c.1067C>T (p.Ala356Val) http://identifiers.org/clinvar/355475 ^@ NM_172105.3(EYA4):c.*2759G>A http://identifiers.org/clinvar/359824 ^@ NM_004403.2(DFNA5):c.*481_*485dupGAGTA http://identifiers.org/clinvar/355525 ^@ NM_000288.3(PEX7):c.-3G>A http://identifiers.org/clinvar/355575 ^@ NM_003630.2(PEX3):c.245A>G (p.Gln82Arg) http://identifiers.org/clinvar/363962 ^@ NM_018444.3(PDP1):c.*1409G>A http://identifiers.org/clinvar/355875 ^@ NM_033071.3(SYNE1):c.13341C>T (p.Arg4447=) http://identifiers.org/clinvar/364562 ^@ NM_003640.4(IKBKAP):c.3222+14C>T http://identifiers.org/clinvar/364612 ^@ NM_005592.3(MUSK):c.1928-6T>C http://identifiers.org/clinvar/355725 ^@ NM_203395.2(IYD):c.*1833G>A http://identifiers.org/clinvar/364662 ^@ NM_000031.5(ALAD):c.-156_-155dupCC http://identifiers.org/clinvar/356025 ^@ NM_004562.2(PRKN):c.-107G>A http://identifiers.org/clinvar/356075 ^@ NM_198586.2(NHLRC1):c.*248C>A http://identifiers.org/clinvar/356125 ^@ NM_000367.4(TPMT):c.-138delG http://identifiers.org/clinvar/356175 ^@ NM_001080.3(ALDH5A1):c.*1840G>A http://identifiers.org/clinvar/361163 ^@ NM_015713.4(RRM2B):c.*998A>G http://identifiers.org/clinvar/365501 ^@ NM_000368.4(TSC1):c.*298A>G http://identifiers.org/clinvar/365551 ^@ NM_139025.4(ADAMTS13):c.1930C>T (p.Arg644Cys) http://identifiers.org/clinvar/361516 ^@ NM_014112.4(TRPS1):c.*4973G>A http://identifiers.org/clinvar/366052 ^@ NM_144966.5(FREM1):c.*2461C>A http://identifiers.org/clinvar/366102 ^@ NM_144966.5(FREM1):c.6255-4T>G http://identifiers.org/clinvar/303104 ^@ NM_006918.4(SC5D):c.*4432T>A http://identifiers.org/clinvar/311402 ^@ NM_002010.2(FGF9):c.-796C>T http://identifiers.org/clinvar/311552 ^@ NM_014363.5(SACS):c.3042A>G (p.Leu1014=) http://identifiers.org/clinvar/311702 ^@ NM_004795.3(KL):c.2259G>A (p.Leu753=) http://identifiers.org/clinvar/311852 ^@ NM_001127217.2(SMAD9):c.*1960G>T http://identifiers.org/clinvar/311902 ^@ NM_001127217.2(SMAD9):c.743C>A (p.Thr248Lys) http://identifiers.org/clinvar/304093 ^@ NM_213599.2(ANO5):c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG http://identifiers.org/clinvar/304193 ^@ NM_022725.3(FANCF):c.*565A>G http://identifiers.org/clinvar/304293 ^@ NM_000280.4(PAX6):c.*4599T>G http://identifiers.org/clinvar/304343 ^@ NM_000280.4(PAX6):c.*1053T>C http://identifiers.org/clinvar/364062 ^@ NM_014290.2(TDRD7):c.700A>G (p.Met234Val) http://identifiers.org/clinvar/304443 ^@ NM_003477.2(PDHX):c.-506T>C http://identifiers.org/clinvar/312841 ^@ NM_002471.3(MYH6):c.5566-7C>T http://identifiers.org/clinvar/304493 ^@ NM_000448.2(RAG1):c.152A>T (p.Asp51Val) http://identifiers.org/clinvar/304543 ^@ NM_000536.3(RAG2):c.*227T>C http://identifiers.org/clinvar/304643 ^@ NM_021926.3(ALX4):c.*2226G>A http://identifiers.org/clinvar/304693 ^@ NM_021926.3(ALX4):c.*262G>A http://identifiers.org/clinvar/313291 ^@ NM_018139.2(DNAAF2):c.-79C>T http://identifiers.org/clinvar/313341 ^@ NM_001202.5(BMP4):c.*148_*149insT http://identifiers.org/clinvar/313541 ^@ NM_182914.2(SYNE2):c.8928T>G (p.Gly2976=) http://identifiers.org/clinvar/313691 ^@ NM_182914.2(SYNE2):c.*732G>A http://identifiers.org/clinvar/305043 ^@ NM_005142.2(GIF):c.218A>G (p.Lys73Arg) http://identifiers.org/clinvar/313791 ^@ NM_002382.4(MAX):c.*1276G>C http://identifiers.org/clinvar/305145 ^@ NM_002032.2(FTH1):c.161A>G (p.Lys54Arg) http://identifiers.org/clinvar/314091 ^@ NM_031427.3(DNAL1):c.*4427delA http://identifiers.org/clinvar/314241 ^@ NM_006432.3(NPC2):c.-89G>A http://identifiers.org/clinvar/299265 ^@ NM_001033855.2(DCLRE1C):c.*1487G>C http://identifiers.org/clinvar/299315 ^@ NM_001033855.2(DCLRE1C):c.1368C>T (p.Asn456=) http://identifiers.org/clinvar/314591 ^@ NM_004863.3(SPTLC2):c.*4402G>A http://identifiers.org/clinvar/299615 ^@ NM_201590.2(CACNB2):c.*1619T>C http://identifiers.org/clinvar/299715 ^@ NM_014915.2(ANKRD26):c.*1120A>G http://identifiers.org/clinvar/300315 ^@ NM_001083116.1(PRF1):c.*559T>G http://identifiers.org/clinvar/300415 ^@ NM_022124.5(CDH23):c.2524C>T (p.Arg842Trp) http://identifiers.org/clinvar/315330 ^@ NM_139057.3(ADAMTS17):c.-62C>A http://identifiers.org/clinvar/300515 ^@ NM_002778.3(PSAP):c.1088C>T (p.Thr363Met) http://identifiers.org/clinvar/300615 ^@ NM_004273.4(CHST3):c.*1584T>G http://identifiers.org/clinvar/300015 ^@ NM_000124.3(ERCC6):c.*1275C>G http://identifiers.org/clinvar/315730 ^@ NM_152594.2(SPRED1):c.-152C>A http://identifiers.org/clinvar/315780 ^@ NM_152594.2(SPRED1):c.*4662T>A http://identifiers.org/clinvar/300215 ^@ NM_000417.2(IL2RA):c.*1880C>G http://identifiers.org/clinvar/315930 ^@ NM_138477.2(CDAN1):c.2700G>A (p.Gln900=) http://identifiers.org/clinvar/300265 ^@ NM_000399.4(EGR2):c.*919G>C http://identifiers.org/clinvar/311052 ^@ NM_001845.5(COL4A1):c.2624C>G (p.Pro875Arg) http://identifiers.org/clinvar/329203 ^@ NM_033064.4(ATCAY):c.*3203G>A http://identifiers.org/clinvar/329353 ^@ NM_030578.3(B9D2):c.-172G>A http://identifiers.org/clinvar/311152 ^@ NM_001846.3(COL4A2):c.2759-5T>C http://identifiers.org/clinvar/329403 ^@ NM_152296.4(ATP1A3):c.2610C>T (p.Pro870=) http://identifiers.org/clinvar/311252 ^@ NM_000131.4(F7):c.*851_*855delCTTCA http://identifiers.org/clinvar/318122 ^@ NM_001143979.1(NDE1):c.*367T>C http://identifiers.org/clinvar/318172 ^@ NM_002474.2(MYH11):c.1356T>A (p.Ala452=) http://identifiers.org/clinvar/311502 ^@ NM_014363.5(SACS):c.12216T>A (p.Thr4072=) http://identifiers.org/clinvar/311602 ^@ NM_018451.4(CENPJ):c.*292A>T http://identifiers.org/clinvar/318572 ^@ NM_001089.2(ABCA3):c.448-14C>G http://identifiers.org/clinvar/311752 ^@ NM_015087.4(SPG20):c.*846G>A http://identifiers.org/clinvar/318472 ^@ NM_153603.3(COG7):c.1455C>T (p.Phe485=) http://identifiers.org/clinvar/318622 ^@ NM_020705.2(TBC1D24):c.*56C>T http://identifiers.org/clinvar/318722 ^@ NM_001042432.1(CLN3):c.677+8G>A http://identifiers.org/clinvar/310802 ^@ NM_018979.3(WNK1):c.2895C>T (p.Asn965=) http://identifiers.org/clinvar/318872 ^@ NM_006662.2(SRCAP):c.3097T>C (p.Ser1033Pro) http://identifiers.org/clinvar/319072 ^@ NM_003041.3(SLC5A2):c.1719G>T (p.Leu573=) http://identifiers.org/clinvar/337839 ^@ NM_024411.4(PDYN):c.436A>C (p.Met146Leu) http://identifiers.org/clinvar/319122 ^@ NM_032444.2(SLX4):c.*1095G>A http://identifiers.org/clinvar/319222 ^@ NM_032575.2(GLIS2):c.1403C>T (p.Thr468Met) http://identifiers.org/clinvar/319322 ^@ NM_014321.3(ORC6):c.*602A>G http://identifiers.org/clinvar/311002 ^@ NM_002312.3(LIG4):c.-273C>T http://identifiers.org/clinvar/311202 ^@ NM_001846.3(COL4A2):c.*242C>T http://identifiers.org/clinvar/338389 ^@ NM_005461.4(MAFB):c.*1212_*1213insGAGGA http://identifiers.org/clinvar/311302 ^@ NM_021954.3(GJA3):c.*2079A>G http://identifiers.org/clinvar/312791 ^@ NM_020366.3(RPGRIP1):c.1921G>A (p.Ala641Thr) http://identifiers.org/clinvar/311352 ^@ NM_004004.5(GJB2):c.*1291_*1294delAGTA http://identifiers.org/clinvar/320012 ^@ NM_020312.3(COQ9):c.*100C>T http://identifiers.org/clinvar/311452 ^@ NM_002010.2(FGF9):c.*737G>T http://identifiers.org/clinvar/320112 ^@ NM_001297.4(CNGB1):c.232G>A (p.Ala78Thr) http://identifiers.org/clinvar/311652 ^@ NM_015972.3(POLR1D):c.359A>T (p.Asp120Val) http://identifiers.org/clinvar/320412 ^@ NM_000353.2(TAT):c.308C>T (p.Ser103Leu) http://identifiers.org/clinvar/320612 ^@ NM_021615.4(CHST6):c.465G>A (p.Arg155=) http://identifiers.org/clinvar/313491 ^@ NM_182914.2(SYNE2):c.1852C>G (p.Leu618Val) http://identifiers.org/clinvar/339379 ^@ NM_025219.2(DNAJC5):c.*1079T>C http://identifiers.org/clinvar/313591 ^@ NM_182914.2(SYNE2):c.13707+10T>C http://identifiers.org/clinvar/339579 ^@ NM_000933.3(PLCB4):c.2530A>G (p.Ile844Val) http://identifiers.org/clinvar/321262 ^@ NM_000303.2(PMM2):c.*1136T>C http://identifiers.org/clinvar/339879 ^@ NM_001754.4(RUNX1):c.-59-10C>T http://identifiers.org/clinvar/314191 ^@ NM_182894.2(VSX2):c.-43dupG http://identifiers.org/clinvar/342119 ^@ NM_015166.3(MLC1):c.-527dupG http://identifiers.org/clinvar/328353 ^@ NM_000156.5(GAMT):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/328453 ^@ NM_173483.3(CYP4F22):c.*191G>T http://identifiers.org/clinvar/328503 ^@ NM_000215.3(JAK3):c.2680+3G>C http://identifiers.org/clinvar/328653 ^@ NM_001031726.3(C19orf12):c.*3745G>A http://identifiers.org/clinvar/327014 ^@ NM_001080467.2(MYO5B):c.4315+5G>C http://identifiers.org/clinvar/368220 ^@ NM_004006.2(DMD):c.*1049_*1052delTGAT http://identifiers.org/clinvar/329003 ^@ NM_000540.2(RYR1):c.2937G>A (p.Ala979=) http://identifiers.org/clinvar/327264 ^@ NM_001083962.1(TCF4):c.*2995_*2997delGTT http://identifiers.org/clinvar/368270 ^@ NM_022567.2(NYX):c.1198G>A (p.Gly400Ser) http://identifiers.org/clinvar/329103 ^@ NM_000540.2(RYR1):c.10938-11C>T http://identifiers.org/clinvar/327364 ^@ NM_000140.3(FECH):c.*3129C>T http://identifiers.org/clinvar/329303 ^@ NM_003573.2(LTBP4):c.729C>T (p.Tyr243=) http://identifiers.org/clinvar/329553 ^@ NM_025136.3(OPA3):c.*7085A>G http://identifiers.org/clinvar/329653 ^@ NM_025136.3(OPA3):c.*1642A>G http://identifiers.org/clinvar/328553 ^@ NM_000453.2(SLC5A5):c.*258delC http://identifiers.org/clinvar/328603 ^@ NM_005535.2(IL12RB1):c.180C>T (p.Tyr60=) http://identifiers.org/clinvar/337689 ^@ NM_018848.3(MKKS):c.1282G>A (p.Asp428Asn) http://identifiers.org/clinvar/328803 ^@ NM_000285.3(PEPD):c.967+10G>A http://identifiers.org/clinvar/328853 ^@ NM_004646.3(NPHS1):c.3419G>A (p.Arg1140His) http://identifiers.org/clinvar/328903 ^@ NM_001042631.2(SDHAF1):c.*682A>T http://identifiers.org/clinvar/329253 ^@ NM_181882.2(PRX):c.3846G>A (p.Ser1282=) http://identifiers.org/clinvar/329453 ^@ NM_000483.4(APOC2):c.-2C>T http://identifiers.org/clinvar/329503 ^@ NM_000400.3(ERCC2):c.2142C>G (p.Val714=) http://identifiers.org/clinvar/338539 ^@ NM_000308.3(CTSA):c.1178G>A (p.Arg393Gln) http://identifiers.org/clinvar/339529 ^@ NM_015192.3(PLCB1):c.*880G>T http://identifiers.org/clinvar/339629 ^@ NM_000484.3(APP):c.2124C>T (p.Gly708=) http://identifiers.org/clinvar/339829 ^@ NM_001754.4(RUNX1):c.*2529_*2530dupTG http://identifiers.org/clinvar/339929 ^@ NM_000411.6(HLCS):c.*1997G>A http://identifiers.org/clinvar/339979 ^@ NM_000411.6(HLCS):c.-373A>T http://identifiers.org/clinvar/340029 ^@ NM_020639.2(RIPK4):c.630G>C (p.Ala210=) http://identifiers.org/clinvar/337889 ^@ NM_000361.2(THBD):c.747C>G (p.Asn249Lys) http://identifiers.org/clinvar/337939 ^@ NM_198994.2(TGM6):c.1968-10C>T http://identifiers.org/clinvar/337989 ^@ NM_001042472.2(ABHD12):c.*45G>C http://identifiers.org/clinvar/340129 ^@ NM_000211.4(ITGB2):c.*171G>C http://identifiers.org/clinvar/338039 ^@ NM_032609.2(COX4I2):c.482G>A (p.Arg161His) http://identifiers.org/clinvar/338239 ^@ NM_032034.3(SLC4A11):c.2241-4G>A http://identifiers.org/clinvar/340229 ^@ NM_130445.3(COL18A1):c.1760C>T (p.Ala587Val) http://identifiers.org/clinvar/338089 ^@ NM_015338.5(ASXL1):c.1488C>G (p.Asn496Lys) http://identifiers.org/clinvar/338189 ^@ NM_006892.3(DNMT3B):c.*183C>T http://identifiers.org/clinvar/338289 ^@ NM_000178.3(GSS):c.*181C>T http://identifiers.org/clinvar/338339 ^@ NM_015474.3(SAMHD1):c.*45C>T http://identifiers.org/clinvar/338439 ^@ NM_000457.4(HNF4A):c.*305A>G http://identifiers.org/clinvar/340580 ^@ NM_014339.6(IL17RA):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/340630 ^@ NM_014339.6(IL17RA):c.*821C>T http://identifiers.org/clinvar/338589 ^@ NM_030777.3(SLC2A10):c.71A>T (p.Tyr24Phe) http://identifiers.org/clinvar/339429 ^@ NM_025219.2(DNAJC5):c.*3480G>C http://identifiers.org/clinvar/339479 ^@ NM_012469.3(PRPF6):c.1770-11_1770-10delTT http://identifiers.org/clinvar/339779 ^@ NM_000219.5(KCNE1):c.-252G>A http://identifiers.org/clinvar/389270 ^@ NM_000492.3(CFTR):c.697C>G (p.Leu233Val) http://identifiers.org/clinvar/382829 ^@ NM_000136.2(FANCC):c.345+18G>C http://identifiers.org/clinvar/380585 ^@ NM_024740.2(ALG9):c.132-12G>T http://identifiers.org/clinvar/388970 ^@ NM_020987.4(ANK3):c.13109A>T (p.His4370Leu) http://identifiers.org/clinvar/378894 ^@ NM_000218.2(KCNQ1):c.129C>T (p.Gly43=) http://identifiers.org/clinvar/391959 ^@ NM_020987.4(ANK3):c.3527G>A (p.Arg1176Gln) http://identifiers.org/clinvar/384031 ^@ NM_014000.2(VCL):c.169-18T>A http://identifiers.org/clinvar/389870 ^@ NM_021830.4(TWNK):c.1414G>A (p.Asp472Asn) http://identifiers.org/clinvar/382528 ^@ NM_001134363.2(RBM20):c.2550+12T>C http://identifiers.org/clinvar/384081 ^@ NM_024079.4(ALG8):c.1134G>T (p.Trp378Cys) http://identifiers.org/clinvar/382378 ^@ NM_003640.4(IKBKAP):c.3346+7G>T http://identifiers.org/clinvar/391909 ^@ NM_199292.2(TH):c.892G>C (p.Asp298His) http://identifiers.org/clinvar/380685 ^@ NM_018400.3(SCN3B):c.584+12G>A http://identifiers.org/clinvar/388870 ^@ NM_021625.4(TRPV4):c.2559C>T (p.Cys853=) http://identifiers.org/clinvar/378086 ^@ NM_001144869.2(LIPT2):c.158C>T (p.Ala53Val) http://identifiers.org/clinvar/392709 ^@ NM_016156.5(MTMR2):c.1431G>A (p.Ser477=) http://identifiers.org/clinvar/392359 ^@ NM_012463.3(ATP6V0A2):c.515A>G (p.Lys172Arg) http://identifiers.org/clinvar/391859 ^@ NM_020297.3(ABCC9):c.2607G>A (p.Val869=) http://identifiers.org/clinvar/392959 ^@ NM_001376.4(DYNC1H1):c.10413+16T>C http://identifiers.org/clinvar/377784 ^@ NM_012062.4(DNM1L):c.1079+10A>G http://identifiers.org/clinvar/380535 ^@ NM_001160147.1(DDHD1):c.1545A>G (p.Gln515=) http://identifiers.org/clinvar/380134 ^@ NM_006415.3(SPTLC1):c.1329-9T>C http://identifiers.org/clinvar/388381 ^@ NM_004863.3(SPTLC2):c.956+10C>G http://identifiers.org/clinvar/377484 ^@ NM_020987.4(ANK3):c.6695G>A (p.Arg2232Gln) http://identifiers.org/clinvar/389620 ^@ NM_001080449.2(DNA2):c.1763+14A>C http://identifiers.org/clinvar/378441 ^@ NM_000314.6(PTEN):c.802-9T>G http://identifiers.org/clinvar/389970 ^@ NM_002471.3(MYH6):c.2168+17C>A http://identifiers.org/clinvar/377584 ^@ NM_000059.3(BRCA2):c.9502-17T>C http://identifiers.org/clinvar/384181 ^@ NM_001271.3(CHD2):c.2577+19T>C http://identifiers.org/clinvar/383931 ^@ NM_014956.4(CEP164):c.262T>C (p.Cys88Arg) http://identifiers.org/clinvar/378844 ^@ NM_130838.1(UBE3A):c.2342T>A (p.Leu781His) http://identifiers.org/clinvar/380234 ^@ NM_000548.4(TSC2):c.1361+20C>G http://identifiers.org/clinvar/392209 ^@ NM_000138.4(FBN1):c.7669T>C (p.Ser2557Pro) http://identifiers.org/clinvar/378794 ^@ NM_000548.4(TSC2):c.5161-8G>A http://identifiers.org/clinvar/388281 ^@ NM_001009944.2(PKD1):c.8497C>T (p.Pro2833Ser) http://identifiers.org/clinvar/378336 ^@ NM_000920.3(PC):c.2706C>T (p.Gly902=) http://identifiers.org/clinvar/377684 ^@ NM_001042432.1(CLN3):c.180C>T (p.His60=) http://identifiers.org/clinvar/382579 ^@ NM_019109.4(ALG1):c.714C>T (p.Gly238=) http://identifiers.org/clinvar/383580 ^@ NM_030962.3(SBF2):c.5319+7C>T http://identifiers.org/clinvar/392509 ^@ NM_000138.4(FBN1):c.2634C>T (p.Ser878=) http://identifiers.org/clinvar/377934 ^@ NM_000833.4(GRIN2A):c.-19+8C>T http://identifiers.org/clinvar/392059 ^@ NM_003922.3(HERC1):c.9697G>T (p.Ala3233Ser) http://identifiers.org/clinvar/389370 ^@ NM_003119.3(SPG7):c.2182-18T>C http://identifiers.org/clinvar/334 ^@ NM_001042492.2(NF1):c.5858T>C (p.Leu1953Pro) http://identifiers.org/clinvar/558 ^@ NM_001012515.2(FECH):c.1154delA (p.Lys385Argfs) http://identifiers.org/clinvar/631 ^@ NM_000277.1(PAH):c.527G>T (p.Arg176Leu) http://identifiers.org/clinvar/640 ^@ NM_016513.4(ICK):c.815G>A (p.Arg272Gln) http://identifiers.org/clinvar/780 ^@ NM_198488.3(FAM83H):c.923_924delTC (p.Leu308Argfs) http://identifiers.org/clinvar/844 ^@ NM_012463.3(ATP6V0A2):c.2293C>T (p.Gln765Ter) http://identifiers.org/clinvar/881 ^@ NM_000046.3(ARSB):c.238delG (p.Val80Cysfs) http://identifiers.org/clinvar/890 ^@ NM_006331.7(EMG1):c.257A>G (p.Asp86Gly) http://identifiers.org/clinvar/1030 ^@ NM_020223.3(FAM20C):c.1446-1G>A http://identifiers.org/clinvar/1099 ^@ NM_000642.2(AGL):c.4260-12A>G http://identifiers.org/clinvar/2916 ^@ NM_173477.4(USH1G):c.832_851del20 (p.Ser278Profs) http://identifiers.org/clinvar/2961 ^@ NPC1, 1553G-A http://identifiers.org/clinvar/3006 ^@ NM_000226.3(KRT9):c.470T>C (p.Met157Thr) http://identifiers.org/clinvar/3055 ^@ ARSA, 11-BP DEL, EX8 http://identifiers.org/clinvar/3100 ^@ NM_005670.3(EPM2A):c.322C>T (p.Arg108Cys) http://identifiers.org/clinvar/3155 ^@ ADAMTS17, IVS12, G-A, +1 http://identifiers.org/clinvar/3200 ^@ NM_001079802.1(FKTN):c.139C>T (p.Arg47Ter) http://identifiers.org/clinvar/3249 ^@ POMT1, GLN590HIS http://identifiers.org/clinvar/10345 ^@ F8, EX18-19DEL http://identifiers.org/clinvar/10395 ^@ NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) http://identifiers.org/clinvar/10442 ^@ NM_000166.5(GJB1):c.614A>G (p.Asn205Ser) http://identifiers.org/clinvar/10490 ^@ NM_000202.7(IDS):c.514C>T (p.Arg172Ter) http://identifiers.org/clinvar/10536 ^@ NM_000292.2(PHKA2):c.395A>C (p.His132Pro) http://identifiers.org/clinvar/10581 ^@ NM_000133.3(F9):c.479G>C (p.Gly160Ala) http://identifiers.org/clinvar/10626 ^@ F9, EX4INS http://identifiers.org/clinvar/10672 ^@ FAM58A, 4249-BP DEL http://identifiers.org/clinvar/10717 ^@ NM_000169.2(GLA):c.886A>G (p.Met296Val) http://identifiers.org/clinvar/10762 ^@ GLA, EX2-6DUP http://identifiers.org/clinvar/10807 ^@ MID1, 1-BP INS http://identifiers.org/clinvar/10852 ^@ NM_000054.4(AVPR2):c.137T>A (p.Ile46Lys) http://identifiers.org/clinvar/10899 ^@ NM_002351.4(SH2D1A):c.172C>T (p.Gln58Ter) http://identifiers.org/clinvar/10943 ^@ NM_001205019.1(GK):c.1337A>T (p.Asp446Val) http://identifiers.org/clinvar/11033 ^@ NM_001399.4(EDA):c.67C>T (p.Gln23Ter) http://identifiers.org/clinvar/11079 ^@ NM_001128834.2(PLP1):c.544A>C (p.Thr182Pro) http://identifiers.org/clinvar/11406 ^@ NM_015884.3(MBTPS2):c.677G>T (p.Trp226Leu) http://identifiers.org/clinvar/11456 ^@ NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe) http://identifiers.org/clinvar/11507 ^@ NM_001011658.3(TRAPPC2):c.53_54delTT (p.Phe18Terfs) http://identifiers.org/clinvar/11558 ^@ FHL1, 1-BP INS, NT817 http://identifiers.org/clinvar/11608 ^@ NM_178152.2(DCX):c.265C>G (p.Arg89Gly) http://identifiers.org/clinvar/11658 ^@ NM_004586.2(RPS6KA3):c.2186G>A (p.Arg729Gln) http://identifiers.org/clinvar/37651 ^@ NM_007294.3(BRCA1):c.5259delA (p.Glu1754Asnfs) http://identifiers.org/clinvar/37708 ^@ NM_007294.3(BRCA1):c.929delA (p.Gln310Argfs) http://identifiers.org/clinvar/37758 ^@ NM_000059.3(BRCA2):c.179A>G (p.Asn60Ser) http://identifiers.org/clinvar/37812 ^@ NM_000059.3(BRCA2):c.2979G>A (p.Trp993Ter) http://identifiers.org/clinvar/38126 ^@ NM_000059.3(BRCA2):c.7913_7917delTTCCT (p.Phe2638Terfs) http://identifiers.org/clinvar/38176 ^@ NM_000059.3(BRCA2):c.865A>G (p.Asn289Asp) http://identifiers.org/clinvar/38226 ^@ NM_000059.3(BRCA2):c.9274delT (p.Tyr3092Ilefs) http://identifiers.org/clinvar/38480 ^@ NM_000492.3(CFTR):c.3067_3072delATAGTG (p.Ile1023_Val1024del) http://identifiers.org/clinvar/38282 ^@ M60091.1:c.772C>T http://identifiers.org/clinvar/38340 ^@ NM_000426.3(LAMA2):c.2049_2050delAG (p.Arg683Serfs) http://identifiers.org/clinvar/38399 ^@ NM_014252.3(SLC25A15):c.564C>G (p.Phe188Leu) http://identifiers.org/clinvar/51177 ^@ NM_000059.3(BRCA2):c.170dupA (p.Tyr57Terfs) http://identifiers.org/clinvar/51229 ^@ NM_000059.3(BRCA2):c.1933delA (p.Arg645Glufs) http://identifiers.org/clinvar/51280 ^@ NM_000059.3(BRCA2):c.241T>C (p.Phe81Leu) http://identifiers.org/clinvar/51331 ^@ NM_000059.3(BRCA2):c.2701delC (p.Ala902Leufs) http://identifiers.org/clinvar/51381 ^@ NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) http://identifiers.org/clinvar/51431 ^@ NM_000059.3(BRCA2):c.3245A>G (p.Lys1082Arg) http://identifiers.org/clinvar/51483 ^@ NM_000059.3(BRCA2):c.3536G>A (p.Ser1179Asn) http://identifiers.org/clinvar/51534 ^@ NM_000059.3(BRCA2):c.3835A>G (p.Asn1279Asp) http://identifiers.org/clinvar/51586 ^@ NM_000059.3(BRCA2):c.4046T>C (p.Ile1349Thr) http://identifiers.org/clinvar/51638 ^@ NM_000059.3(BRCA2):c.4380_4381delTT (p.Ser1461Leufs) http://identifiers.org/clinvar/51689 ^@ NM_000059.3(BRCA2):c.4655G>T (p.Gly1552Val) http://identifiers.org/clinvar/53104 ^@ NM_000218.2(KCNQ1):c.783G>C (p.Glu261Asp) http://identifiers.org/clinvar/53156 ^@ NM_000492.3(CFTR):c.*80T>G http://identifiers.org/clinvar/53208 ^@ NM_000492.3(CFTR):c.1177delG (p.Val393Terfs) http://identifiers.org/clinvar/53260 ^@ NM_000492.3(CFTR):c.1469_1470delTC (p.Phe490Leufs) http://identifiers.org/clinvar/53311 ^@ NM_000492.3(CFTR):c.1648G>A (p.Gly550Arg) http://identifiers.org/clinvar/53361 ^@ NM_000492.3(CFTR):c.172G>A (p.Asp58Asn) http://identifiers.org/clinvar/53411 ^@ NM_000492.3(CFTR):c.1898T>C (p.Leu633Pro) http://identifiers.org/clinvar/53463 ^@ NM_000492.3(CFTR):c.2259C>G (p.Ser753Arg) http://identifiers.org/clinvar/53516 ^@ NM_000492.3(CFTR):c.2589_2599delAATTTGGTGCT (p.Ile864Serfs) http://identifiers.org/clinvar/53566 ^@ NM_000492.3(CFTR):c.2775_2776delTT (p.Leu926Alafs) http://identifiers.org/clinvar/53616 ^@ NM_000492.3(CFTR):c.2989_3139del151 (p.Leu997Alafs) http://identifiers.org/clinvar/53668 ^@ NM_000492.3(CFTR):c.3169A>G (p.Thr1057Ala) http://identifiers.org/clinvar/53719 ^@ NM_000492.3(CFTR):c.3322G>C (p.Val1108Leu) http://identifiers.org/clinvar/53770 ^@ NM_000492.3(CFTR):c.3546C>G (p.Tyr1182Ter) http://identifiers.org/clinvar/53822 ^@ NM_000492.3(CFTR):c.3848G>A (p.Arg1283Lys) http://identifiers.org/clinvar/53874 ^@ NM_000492.3(CFTR):c.4015C>T (p.Leu1339Phe) http://identifiers.org/clinvar/53925 ^@ NM_000492.3(CFTR):c.4231C>T (p.Gln1411Ter) http://identifiers.org/clinvar/53975 ^@ NM_000492.3(CFTR):c.490-2A>G http://identifiers.org/clinvar/54025 ^@ NM_000492.3(CFTR):c.609C>G (p.Ile203Met) http://identifiers.org/clinvar/54077 ^@ NM_000492.3(CFTR):c.874G>A (p.Glu292Lys) http://identifiers.org/clinvar/54127 ^@ NM_007294.3(BRCA1):c.1100dupC (p.Glu368Terfs) http://identifiers.org/clinvar/54177 ^@ NM_007294.3(BRCA1):c.1255delG (p.Val419Terfs) http://identifiers.org/clinvar/54227 ^@ NM_007294.3(BRCA1):c.1381T>C (p.Phe461Leu) http://identifiers.org/clinvar/54278 ^@ NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) http://identifiers.org/clinvar/54328 ^@ NM_007294.3(BRCA1):c.1703C>G (p.Pro568Arg) http://identifiers.org/clinvar/54379 ^@ NM_007294.3(BRCA1):c.1881_1884delCAGT (p.Ser628Glufs) http://identifiers.org/clinvar/54429 ^@ NM_007294.3(BRCA1):c.1996delC (p.Leu666Tyrfs) http://identifiers.org/clinvar/54479 ^@ NM_007294.3(BRCA1):c.2158G>A (p.Glu720Lys) http://identifiers.org/clinvar/54529 ^@ NM_007294.3(BRCA1):c.230C>T (p.Thr77Met) http://identifiers.org/clinvar/55122 ^@ NM_007294.3(BRCA1):c.4167delT (p.Ser1389Argfs) http://identifiers.org/clinvar/55173 ^@ NM_007294.3(BRCA1):c.4339C>T (p.Gln1447Ter) http://identifiers.org/clinvar/55224 ^@ NM_007294.3(BRCA1):c.4534A>T (p.Ser1512Cys) http://identifiers.org/clinvar/55274 ^@ NM_007294.3(BRCA1):c.4733A>G (p.Asp1578Gly) http://identifiers.org/clinvar/55325 ^@ NM_007294.3(BRCA1):c.4941C>A (p.Asn1647Lys) http://identifiers.org/clinvar/55375 ^@ NM_007294.3(BRCA1):c.5074+3A>G http://identifiers.org/clinvar/55425 ^@ NM_007294.3(BRCA1):c.5152+3A>C http://identifiers.org/clinvar/55475 ^@ NM_007294.3(BRCA1):c.5242G>A (p.Gly1748Ser) http://identifiers.org/clinvar/55528 ^@ NM_007294.3(BRCA1):c.5332+1G>C http://identifiers.org/clinvar/55578 ^@ NM_007294.3(BRCA1):c.5432A>G (p.Gln1811Arg) http://identifiers.org/clinvar/55628 ^@ NM_007294.3(BRCA1):c.5558dupA (p.Tyr1853Terfs) http://identifiers.org/clinvar/55680 ^@ NM_007294.3(BRCA1):c.72_73delTC (p.Pro25Hisfs) http://identifiers.org/clinvar/55731 ^@ NM_007294.3(BRCA1):c.839C>G (p.Ala280Gly) http://identifiers.org/clinvar/55793 ^@ NM_004333.4(BRAF):c.741T>G (p.Phe247Leu) http://identifiers.org/clinvar/55860 ^@ NM_001003800.1(BICD2):c.2321A>G (p.Glu774Gly) http://identifiers.org/clinvar/55939 ^@ NM_000027.3(AGA):c.200_201delAG (p.Glu67Alafs) http://identifiers.org/clinvar/55990 ^@ NM_000111.2(SLC26A3):c.2104_2105delGGinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe) http://identifiers.org/clinvar/56043 ^@ NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) http://identifiers.org/clinvar/56094 ^@ NM_000170.2(GLDC):c.395C>G (p.Ser132Trp) http://identifiers.org/clinvar/56148 ^@ NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) http://identifiers.org/clinvar/56199 ^@ NM_000310.3(PPT1):c.536+1G>A http://identifiers.org/clinvar/56250 ^@ NM_001042432.1(CLN3):c.1195G>T (p.Glu399Ter) http://identifiers.org/clinvar/56300 ^@ NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) http://identifiers.org/clinvar/56352 ^@ NM_001126105.2(SLC7A7):c.1185_1188delTTCT (p.Ser396Leufs) http://identifiers.org/clinvar/56404 ^@ NM_004260.3(RECQL4):c.2059-1G>A http://identifiers.org/clinvar/56454 ^@ NM_004646.3(NPHS1):c.1905C>T (p.Ser635=) http://identifiers.org/clinvar/56504 ^@ NM_004646.3(NPHS1):c.398-1G>A http://identifiers.org/clinvar/56555 ^@ NM_012434.4(SLC17A5):c.309G>A (p.Trp103Ter) http://identifiers.org/clinvar/56609 ^@ NM_017739.3(POMGNT1):c.879+5G>T http://identifiers.org/clinvar/56663 ^@ NM_017890.4(VPS13B):c.4396dupA (p.Thr1466Asnfs) http://identifiers.org/clinvar/56713 ^@ NM_018941.3(CLN8):c.562_563delCT (p.Leu188Valfs) http://identifiers.org/clinvar/57183 ^@ GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 http://identifiers.org/clinvar/57236 ^@ GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1 http://identifiers.org/clinvar/101161 ^@ NM_000090.3(COL3A1):c.718G>C (p.Gly240Arg) http://identifiers.org/clinvar/101211 ^@ NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del) http://identifiers.org/clinvar/101261 ^@ NM_000090.3(COL3A1):c.898-1G>C (p.Gly300_Ala317del) http://identifiers.org/clinvar/101311 ^@ NM_000090.3(COL3A1):c.2024G>T (p.Gly675Val) http://identifiers.org/clinvar/101361 ^@ NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) http://identifiers.org/clinvar/101411 ^@ NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg) http://identifiers.org/clinvar/102881 ^@ NM_000277.1(PAH):c.864G>C (p.Leu288Phe) http://identifiers.org/clinvar/102939 ^@ NM_021209.4(NLRC4):c.-1025C>A http://identifiers.org/clinvar/102989 ^@ NM_153447.4(NLRP5):c.-57G>A http://identifiers.org/clinvar/103039 ^@ NM_001079821.2(NLRP3):c.2840+12G>C http://identifiers.org/clinvar/103089 ^@ NM_006092.2(NOD1):c.1369C>T (p.Arg457Trp) http://identifiers.org/clinvar/103139 ^@ NM_024618.3(NLRX1):c.230-91T>C http://identifiers.org/clinvar/103189 ^@ NM_032206.4(NLRC5):c.4070+43G>A http://identifiers.org/clinvar/103239 ^@ NM_138329.2(NLRP6):c.2201+35C>T http://identifiers.org/clinvar/103289 ^@ NM_153447.4(NLRP5):c.2958-65G>A http://identifiers.org/clinvar/103339 ^@ NM_176821.3(NLRP10):c.993G>A (p.Glu331=) http://identifiers.org/clinvar/111213 ^@ NM_000416.2(IFNGR1):c.538G>A (p.Gly180Arg) http://identifiers.org/clinvar/111263 ^@ NM_003263.3(TLR1):c.1661A>G (p.Tyr554Cys) http://identifiers.org/clinvar/120224 ^@ NM_012268.3(PLD3):c.694G>A (p.Val232Met) http://identifiers.org/clinvar/120275 ^@ NM_000277.1(PAH):c.441+6T>A http://identifiers.org/clinvar/120325 ^@ NM_016373.3(WWOX):c.160C>T (p.Arg54Ter) http://identifiers.org/clinvar/125491 ^@ NM_007294.3(BRCA1):c.19_47del29 (p.Arg7Cysfs) http://identifiers.org/clinvar/125565 ^@ NM_007294.3(BRCA1):c.135-19C>A http://identifiers.org/clinvar/125651 ^@ NM_007294.3(BRCA1):c.3776A>C (p.Asn1259Thr) http://identifiers.org/clinvar/125715 ^@ NM_007294.3(BRCA1):c.4485-18T>A http://identifiers.org/clinvar/125782 ^@ NM_007294.3(BRCA1):c.5152+85delT http://identifiers.org/clinvar/125854 ^@ NM_007294.3(BRCA1):c.5468-17G>A http://identifiers.org/clinvar/125914 ^@ NM_007294.3(BRCA1):c.807_808ins11 (p.?) http://identifiers.org/clinvar/125979 ^@ NM_000059.3(BRCA2):c.2229T>C (p.His743=) http://identifiers.org/clinvar/126039 ^@ K1381del http://identifiers.org/clinvar/126116 ^@ NM_000059.3(BRCA2):c.475+3A>T http://identifiers.org/clinvar/126174 ^@ NM_000059.3(BRCA2):c.8323dupA (p.Met2775Asnfs) http://identifiers.org/clinvar/126238 ^@ NM_001080522.2(CC2D2A):c.3288+25T>C http://identifiers.org/clinvar/126288 ^@ NM_024809.4(TCTN2):c.599G>A (p.Arg200Gln) http://identifiers.org/clinvar/126339 ^@ NM_020732.3(ARID1B):c.942C>A (p.Gly314=) http://identifiers.org/clinvar/160347 ^@ NM_003921.4(BCL10):c.57+1G>A http://identifiers.org/clinvar/160807 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 http://identifiers.org/clinvar/160858 ^@ GRCh38/hg38 8p23.2(chr8:3853288-6054774)x3 http://identifiers.org/clinvar/160910 ^@ GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1 http://identifiers.org/clinvar/160962 ^@ GRCh38/hg38 8p23.2(chr8:2641113-3269970)x3 http://identifiers.org/clinvar/161013 ^@ GRCh38/hg38 2p11.2(chr2:87148954-87705899)x1 http://identifiers.org/clinvar/161063 ^@ GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3 http://identifiers.org/clinvar/161113 ^@ NM_005214.4(CTLA4):c.109+1G>T http://identifiers.org/clinvar/161192 ^@ NM_001114748.1(TMEM240):c.509C>T (p.Pro170Leu) http://identifiers.org/clinvar/161345 ^@ NM_000313.3(PROS1):c.946C>T (p.Arg316Cys) http://identifiers.org/clinvar/161295 ^@ NM_000244.3(MEN1):c.578C>T (p.Pro193Leu) http://identifiers.org/clinvar/161245 ^@ NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) http://identifiers.org/clinvar/161396 ^@ NM_000363.4(TNNI3):c.484C>T (p.Arg162Trp) http://identifiers.org/clinvar/161564 ^@ NM_001199080.2(PODN):c.1147G>T (p.Ala383Ser) http://identifiers.org/clinvar/161514 ^@ NM_001114980.1(TP63):c.395G>A (p.Arg132His) http://identifiers.org/clinvar/161764 ^@ NM_022828.4(YTHDC2):c.2617C>A (p.Pro873Thr) http://identifiers.org/clinvar/161664 ^@ NM_012446.4(SSBP2):c.719A>T (p.Tyr240Phe) http://identifiers.org/clinvar/161464 ^@ NM_000322.4(PRPH2):c.997G>A (p.Glu333Lys) http://identifiers.org/clinvar/161714 ^@ NM_018303.5(EXOC2):c.1241G>A (p.Arg414His) http://identifiers.org/clinvar/161814 ^@ NM_152453.3(TMCO5A):c.645G>C (p.Lys215Asn) http://identifiers.org/clinvar/161614 ^@ NM_003437.4(ZNF136):c.883T>G (p.Leu295Val) http://identifiers.org/clinvar/161976 ^@ NM_001845.5(COL4A1):c.4881C>G (p.Asn1627Lys) http://identifiers.org/clinvar/178114 ^@ NM_001035.2(RYR2):c.1166G>A (p.Arg389His) http://identifiers.org/clinvar/178832 ^@ NM_133378.4(TTN):c.96296T>C (p.Ile32099Thr) http://identifiers.org/clinvar/165735 ^@ NM_133378.4(TTN):c.84980G>A (p.Arg28327Gln) http://identifiers.org/clinvar/179572 ^@ NM_133378.4(TTN):c.78731T>C (p.Ile26244Thr) http://identifiers.org/clinvar/179722 ^@ NM_133378.4(TTN):c.37299C>T (p.Asn12433=) http://identifiers.org/clinvar/165884 ^@ NM_133378.4(TTN):c.59074G>A (p.Glu19692Lys) http://identifiers.org/clinvar/166436 ^@ NM_206933.2(USH2A):c.12462T>C (p.Pro4154=) http://identifiers.org/clinvar/178164 ^@ NM_133378.4(TTN):c.90563C>T (p.Thr30188Ile) http://identifiers.org/clinvar/178214 ^@ NM_001256850.1(TTN):c.39666G>A (p.Thr13222=) http://identifiers.org/clinvar/166076 ^@ NM_133378.4(TTN):c.32798G>A (p.Arg10933His) http://identifiers.org/clinvar/166276 ^@ NM_133379.4(TTN):c.11638A>G (p.Ser3880Gly) http://identifiers.org/clinvar/179522 ^@ NM_133378.4(TTN):c.32704+8delA http://identifiers.org/clinvar/166226 ^@ NM_001256850.1(TTN):c.13358A>G (p.Tyr4453Cys) http://identifiers.org/clinvar/178264 ^@ NM_001267550.2(TTN):c.11254+2T>C http://identifiers.org/clinvar/178514 ^@ NM_194248.2(OTOF):c.748C>T (p.Arg250Trp) http://identifiers.org/clinvar/166326 ^@ NM_133378.4(TTN):c.3577G>A (p.Val1193Met) http://identifiers.org/clinvar/179822 ^@ NM_194248.2(OTOF):c.1930G>A (p.Val644Ile) http://identifiers.org/clinvar/165970 ^@ NM_133378.4(TTN):c.47602G>A (p.Glu15868Lys) http://identifiers.org/clinvar/179472 ^@ NM_198056.2(SCN5A):c.369G>A (p.Ala123=) http://identifiers.org/clinvar/178732 ^@ NM_001277115.1(DNAH11):c.10399G>A (p.Ala3467Thr) http://identifiers.org/clinvar/200951 ^@ NM_170707.3(LMNA):c.77T>C (p.Ile26Thr) http://identifiers.org/clinvar/201200 ^@ NM_001035.2(RYR2):c.727G>A (p.Glu243Lys) http://identifiers.org/clinvar/201256 ^@ NM_001035.2(RYR2):c.5680C>T (p.Leu1894Phe) http://identifiers.org/clinvar/201310 ^@ NM_001035.2(RYR2):c.11225A>C (p.Gln3742Pro) http://identifiers.org/clinvar/201366 ^@ NM_001035.2(RYR2):c.14884T>A (p.Tyr4962Asn) http://identifiers.org/clinvar/199706 ^@ NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) http://identifiers.org/clinvar/201536 ^@ NM_198056.2(SCN5A):c.5360G>C (p.Ser1787Thr) http://identifiers.org/clinvar/201423 ^@ NM_198056.2(SCN5A):c.4935G>A (p.Thr1645=) http://identifiers.org/clinvar/201593 ^@ NM_198056.2(SCN5A):c.4813G>C (p.Gly1605Arg) http://identifiers.org/clinvar/201477 ^@ NM_198056.2(SCN5A):c.2618C>T (p.Ser873Leu) http://identifiers.org/clinvar/199870 ^@ NM_004415.3(DSP):c.2552T>A (p.Leu851Gln) http://identifiers.org/clinvar/199928 ^@ NM_004415.3(DSP):c.7873dupA (p.Thr2625Asnfs) http://identifiers.org/clinvar/200510 ^@ NM_000238.3(KCNH2):c.2952C>A (p.Cys984Ter) http://identifiers.org/clinvar/200751 ^@ NM_000238.3(KCNH2):c.1918T>C (p.Phe640Leu) http://identifiers.org/clinvar/200640 ^@ NM_000238.3(KCNH2):c.1676delT (p.Leu559Profs) http://identifiers.org/clinvar/200335 ^@ NM_000238.3(KCNH2):c.1282T>C (p.Ser428Pro) http://identifiers.org/clinvar/201137 ^@ NM_020975.4(RET):c.2846delG (p.Gly949Glufs) http://identifiers.org/clinvar/200892 ^@ NM_000218.2(KCNQ1):c.425delT (p.Leu142Argfs) http://identifiers.org/clinvar/200837 ^@ NM_000218.2(KCNQ1):c.1033G>A (p.Gly345Arg) http://identifiers.org/clinvar/200094 ^@ NM_000138.4(FBN1):c.6871G>A (p.Asp2291Asn) http://identifiers.org/clinvar/200043 ^@ NM_000138.4(FBN1):c.4343A>G (p.Asp1448Gly) http://identifiers.org/clinvar/199986 ^@ NM_000138.4(FBN1):c.2022G>C (p.Leu674Phe) http://identifiers.org/clinvar/201081 ^@ NM_002474.2(MYH11):c.4994G>T (p.Arg1665Leu) http://identifiers.org/clinvar/201027 ^@ NM_002474.2(MYH11):c.3604G>A (p.Ala1202Thr) http://identifiers.org/clinvar/199760 ^@ NM_024422.4(DSC2):c.431T>C (p.Met144Thr) http://identifiers.org/clinvar/199817 ^@ NM_001943.4(DSG2):c.2434G>A (p.Gly812Ser) http://identifiers.org/clinvar/201650 ^@ NM_001103.3(ACTN2):c.2578C>T (p.Gln860Ter) http://identifiers.org/clinvar/202039 ^@ NM_002667.4(PLN):c.63_64dupTC (p.Gln22Leufs) http://identifiers.org/clinvar/202156 ^@ NM_014000.2(VCL):c.1238C>T (p.Ala413Val) http://identifiers.org/clinvar/201980 ^@ NM_004572.3(PKP2):c.1248T>A (p.Cys416Ter) http://identifiers.org/clinvar/202096 ^@ NM_000116.4(TAZ):c.763G>A (p.Glu255Lys) http://identifiers.org/clinvar/202207 ^@ NM_022455.4(NSD1):c.1742delA (p.Glu581Aspfs) http://identifiers.org/clinvar/203090 ^@ NM_001256850.1(TTN):c.100160C>T (p.Thr33387Met) http://identifiers.org/clinvar/232068 ^@ NM_000038.5(APC):c.6860G>A (p.Arg2287Lys) http://identifiers.org/clinvar/233810 ^@ NM_000038.5(APC):c.6866C>T (p.Thr2289Ile) http://identifiers.org/clinvar/234211 ^@ NM_002485.4(NBN):c.1043T>C (p.Val348Ala) http://identifiers.org/clinvar/232118 ^@ NM_002485.4(NBN):c.703-3T>C http://identifiers.org/clinvar/232568 ^@ NM_000051.3(ATM):c.785T>G (p.Leu262Trp) http://identifiers.org/clinvar/232669 ^@ NM_000051.3(ATM):c.1929T>A (p.Leu643=) http://identifiers.org/clinvar/232368 ^@ NM_000051.3(ATM):c.5358T>C (p.Phe1786=) http://identifiers.org/clinvar/232769 ^@ NM_000051.3(ATM):c.5725A>G (p.Met1909Val) http://identifiers.org/clinvar/233708 ^@ NM_000051.3(ATM):c.8311A>G (p.Thr2771Ala) http://identifiers.org/clinvar/231768 ^@ NM_005591.3(MRE11):c.2086C>T (p.Pro696Ser) http://identifiers.org/clinvar/232719 ^@ NM_000548.4(TSC2):c.2640-5C>T http://identifiers.org/clinvar/231918 ^@ NM_024675.3(PALB2):c.154G>A (p.Val52Ile) http://identifiers.org/clinvar/231718 ^@ NM_024675.3(PALB2):c.115C>T (p.Gln39Ter) http://identifiers.org/clinvar/232819 ^@ NM_001042492.2(NF1):c.494C>T (p.Thr165Ile) http://identifiers.org/clinvar/232619 ^@ NM_007294.3(BRCA1):c.4432G>T (p.Glu1478Ter) http://identifiers.org/clinvar/231968 ^@ NM_007294.3(BRCA1):c.3985G>A (p.Glu1329Lys) http://identifiers.org/clinvar/233760 ^@ NM_007294.3(BRCA1):c.1252delG (p.Glu418Argfs) http://identifiers.org/clinvar/232318 ^@ NM_058216.2(RAD51C):c.187A>G (p.Ile63Val) http://identifiers.org/clinvar/232018 ^@ NM_058216.2(RAD51C):c.622_623delAT (p.Ile208Leufs) http://identifiers.org/clinvar/232168 ^@ NM_032043.2(BRIP1):c.245T>A (p.Val82Glu) http://identifiers.org/clinvar/232468 ^@ NM_000546.5(TP53):c.919+3A>G http://identifiers.org/clinvar/231868 ^@ NM_000546.5(TP53):c.23C>T (p.Pro8Leu) http://identifiers.org/clinvar/234985 ^@ NM_001927.3(DES):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/235036 ^@ NM_000257.3(MYH7):c.717C>G (p.Asp239Glu) http://identifiers.org/clinvar/235086 ^@ NM_023110.2(FGFR1):c.1928G>A (p.Gly643Asp) http://identifiers.org/clinvar/235222 ^@ NM_003619.3(PRSS12):c.1270G>A (p.Val424Ile) http://identifiers.org/clinvar/235275 ^@ NM_020745.3(AARS2):c.2701C>T (p.Arg901Trp) http://identifiers.org/clinvar/235382 ^@ NM_000267.3(NF1):c.6849_6853delTCTTA (p.Leu2284Terfs) http://identifiers.org/clinvar/235437 ^@ NM_001171155.1(PET100):c.82G>A (p.Glu28Lys) http://identifiers.org/clinvar/235490 ^@ NM_000543.4(SMPD1):c.1460C>T (p.Ala487Val) http://identifiers.org/clinvar/235543 ^@ NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) http://identifiers.org/clinvar/235594 ^@ NM_018060.3(IARS2):c.1151T>C (p.Met384Thr) http://identifiers.org/clinvar/235644 ^@ NM_000051.3(ATM):c.3403-15dupT http://identifiers.org/clinvar/235700 ^@ NC_012920.1:m.14000T>A http://identifiers.org/clinvar/235761 ^@ NM_000158.3(GBE1):c.346A>G (p.Lys116Glu) http://identifiers.org/clinvar/239447 ^@ NM_003001.3(SDHC):c.120G>A (p.Arg40=) http://identifiers.org/clinvar/237754 ^@ NM_000384.2(APOB):c.9523delG (p.Ala3175Leufs) http://identifiers.org/clinvar/241987 ^@ NM_152383.4(DIS3L2):c.871G>C (p.Ala291Pro) http://identifiers.org/clinvar/241937 ^@ NM_145038.4(DRC1):c.1976C>T (p.Ser659Leu) http://identifiers.org/clinvar/239797 ^@ NM_004304.4(ALK):c.1755C>T (p.Ala585=) http://identifiers.org/clinvar/239847 ^@ NM_004304.4(ALK):c.618G>A (p.Ala206=) http://identifiers.org/clinvar/240198 ^@ NM_005633.3(SOS1):c.720+9C>T http://identifiers.org/clinvar/237403 ^@ NM_000251.2(MSH2):c.719A>G (p.Asp240Gly) http://identifiers.org/clinvar/237152 ^@ NM_000179.2(MSH6):c.2131C>T (p.Pro711Ser) http://identifiers.org/clinvar/237203 ^@ NM_000179.2(MSH6):c.4001+11_4001+35del25 http://identifiers.org/clinvar/241737 ^@ NM_033084.4(FANCD2):c.2937G>A (p.Met979Ile) http://identifiers.org/clinvar/237353 ^@ NM_000249.3(MLH1):c.97A>G (p.Lys33Glu) http://identifiers.org/clinvar/237303 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTA http://identifiers.org/clinvar/240047 ^@ NM_004656.3(BAP1):c.1407C>T (p.Ser469=) http://identifiers.org/clinvar/240348 ^@ NM_006206.4(PDGFRA):c.322G>A (p.Glu108Lys) http://identifiers.org/clinvar/240298 ^@ NM_006206.4(PDGFRA):c.1237+5G>A http://identifiers.org/clinvar/237253 ^@ NM_000222.2(KIT):c.2043T>G (p.Phe681Leu) http://identifiers.org/clinvar/236647 ^@ NM_000038.5(APC):c.757G>A (p.Gly253Ser) http://identifiers.org/clinvar/242237 ^@ NM_198253.2(TERT):c.3257G>A (p.Arg1086His) http://identifiers.org/clinvar/239647 ^@ NM_004168.3(SDHA):c.1432_1432+1delGG http://identifiers.org/clinvar/237904 ^@ NM_000535.6(PMS2):c.2276-?_*160+?del http://identifiers.org/clinvar/237854 ^@ NM_000492.3(CFTR):c.1393-42G>A http://identifiers.org/clinvar/238893 ^@ NM_001277115.1(DNAH11):c.12250C>G (p.Leu4084Val) http://identifiers.org/clinvar/259897 ^@ NM_006005.3(WFS1):c.1452T>C (p.Leu484=) http://identifiers.org/clinvar/258057 ^@ NM_001369.2(DNAH5):c.7230+32A>G http://identifiers.org/clinvar/258007 ^@ NM_001369.2(DNAH5):c.2052+22C>A http://identifiers.org/clinvar/260047 ^@ NM_006846.3(SPINK5):c.1557C>A (p.Gly519=) http://identifiers.org/clinvar/255868 ^@ NM_000337.5(SGCD):c.295-20C>A http://identifiers.org/clinvar/257057 ^@ NM_001017995.2(SH3PXD2B):c.1062+15G>A http://identifiers.org/clinvar/257357 ^@ NM_001080479.2(ARHGEF28):c.1024+12C>T http://identifiers.org/clinvar/260447 ^@ NM_014845.5(FIG4):c.1948+3A>G http://identifiers.org/clinvar/260847 ^@ NM_017651.4(AHI1):c.2490G>A (p.Arg830=) http://identifiers.org/clinvar/260497 ^@ NM_014989.5(RIMS1):c.3738-20G>A http://identifiers.org/clinvar/260697 ^@ NM_016203.3(PRKAG2):c.864+35_864+36insA http://identifiers.org/clinvar/257907 ^@ NM_001277115.1(DNAH11):c.5410A>G (p.Thr1804Ala) http://identifiers.org/clinvar/257857 ^@ NM_001277115.1(DNAH11):c.11805G>A (p.Pro3935=) http://identifiers.org/clinvar/255418 ^@ NM_000168.5(GLI3):c.1242+42C>G http://identifiers.org/clinvar/255168 ^@ NM_000127.2(EXT1):c.1020C>T (p.Arg340=) http://identifiers.org/clinvar/260897 ^@ NM_017780.3(CHD7):c.2614-48C>G http://identifiers.org/clinvar/255818 ^@ NM_000318.2(PEX2):c.733G>A (p.Ala245Thr) http://identifiers.org/clinvar/256857 ^@ NM_001003722.1(GLE1):c.1312+41G>A http://identifiers.org/clinvar/260147 ^@ NM_007171.3(POMT1):c.2126C>T (p.Ala709Val) http://identifiers.org/clinvar/255068 ^@ NM_000093.4(COL5A1):c.2700+46C>T http://identifiers.org/clinvar/260197 ^@ NM_012144.3(DNAI1):c.1177G>A (p.Val393Met) http://identifiers.org/clinvar/255668 ^@ NM_000264.3(PTCH1):c.-9_-4dupGGCGGC http://identifiers.org/clinvar/255318 ^@ NM_000141.4(FGFR2):c.309C>A (p.Gly103=) http://identifiers.org/clinvar/257407 ^@ NM_001083116.1(PRF1):c.807C>T (p.His269=) http://identifiers.org/clinvar/260247 ^@ NM_012330.3(KAT6B):c.5355C>T (p.Pro1785=) http://identifiers.org/clinvar/259947 ^@ NM_006204.3(PDE6C):c.808T>A (p.Ser270Thr) http://identifiers.org/clinvar/260797 ^@ NM_016952.4(CDON):c.3549C>T (p.Val1183=) http://identifiers.org/clinvar/259546 ^@ NM_004813.2(PEX16):c.542-16C>T http://identifiers.org/clinvar/259747 ^@ NM_005343.3(HRAS):c.369C>T (p.Arg123=) http://identifiers.org/clinvar/260747 ^@ NM_016464.4(TMEM138):c.216C>T (p.Asn72=) http://identifiers.org/clinvar/255218 ^@ NM_000131.4(F7):c.525C>T (p.His175=) http://identifiers.org/clinvar/260397 ^@ NM_014363.5(SACS):c.345+35T>C http://identifiers.org/clinvar/254768 ^@ NM_000053.3(ATP7B):c.3402C>T (p.Pro1134=) http://identifiers.org/clinvar/257107 ^@ NM_001024858.2(SPTB):c.3015C>T (p.Ala1005=) http://identifiers.org/clinvar/260297 ^@ NM_013382.5(POMT2):c.1786-39C>T http://identifiers.org/clinvar/254868 ^@ NM_000070.2(CAPN3):c.2264-11C>T http://identifiers.org/clinvar/332542 ^@ NM_003659.3(AGPS):c.*1105T>A http://identifiers.org/clinvar/335793 ^@ NM_000379.3(XDH):c.837C>T (p.Val279=) http://identifiers.org/clinvar/333042 ^@ NM_002500.4(NEUROD1):c.-73G>A http://identifiers.org/clinvar/332742 ^@ NM_133378.4(TTN):c.79279G>A (p.Ala26427Thr) http://identifiers.org/clinvar/332792 ^@ NM_133378.4(TTN):c.63080T>C (p.Leu21027Pro) http://identifiers.org/clinvar/335893 ^@ NM_001011.3(RPS7):c.-104G>A http://identifiers.org/clinvar/332892 ^@ NM_133378.4(TTN):c.28032C>T (p.Val9344=) http://identifiers.org/clinvar/336093 ^@ NM_022437.2(ABCG8):c.*96delA http://identifiers.org/clinvar/332992 ^@ NM_201548.4(CERKL):c.*567T>C http://identifiers.org/clinvar/333442 ^@ NM_032977.3(CASP10):c.1564T>A (p.Leu522Ile) http://identifiers.org/clinvar/336293 ^@ NM_001430.4(EPAS1):c.*539_*540delTT http://identifiers.org/clinvar/333142 ^@ NM_000393.4(COL5A2):c.2468T>C (p.Leu823Ser) http://identifiers.org/clinvar/333542 ^@ NM_001044385.2(TMEM237):c.*2431T>G http://identifiers.org/clinvar/333192 ^@ NM_000534.4(PMS1):c.-232G>T http://identifiers.org/clinvar/336500 ^@ NM_001135659.2(NRXN1):c.*2766A>G http://identifiers.org/clinvar/335843 ^@ NM_014946.3(SPAST):c.*380_*383delTTGT http://identifiers.org/clinvar/336650 ^@ NM_001114636.1(FANCL):c.*333A>G http://identifiers.org/clinvar/336750 ^@ NM_015910.5(WDPCP):c.*582C>G http://identifiers.org/clinvar/333492 ^@ NM_032977.3(CASP10):c.*3420C>T http://identifiers.org/clinvar/336700 ^@ NM_002618.3(PEX13):c.*2159T>C http://identifiers.org/clinvar/336800 ^@ NM_002056.3(GFPT1):c.*4761G>A http://identifiers.org/clinvar/336850 ^@ NM_002056.3(GFPT1):c.*1401G>A http://identifiers.org/clinvar/342380 ^@ NM_033084.4(FANCD2):c.4234_4239delAGTGAG (p.Ser1412_Glu1413del) http://identifiers.org/clinvar/342280 ^@ NM_016247.3(IMPG2):c.*3619C>T http://identifiers.org/clinvar/337150 ^@ NM_003849.3(SUCLG1):c.*55G>C http://identifiers.org/clinvar/342580 ^@ NM_198196.2(CD96):c.*1843G>A http://identifiers.org/clinvar/342680 ^@ NM_020754.3(ARHGAP31):c.*183A>G http://identifiers.org/clinvar/342730 ^@ NM_020754.3(ARHGAP31):c.*3013G>A http://identifiers.org/clinvar/337500 ^@ NM_017849.3(TMEM127):c.*50C>T http://identifiers.org/clinvar/337550 ^@ NM_014014.4(SNRNP200):c.2839C>G (p.Pro947Ala) http://identifiers.org/clinvar/342330 ^@ NM_016247.3(IMPG2):c.*260A>G http://identifiers.org/clinvar/342480 ^@ NM_000551.3(VHL):c.*2647C>A http://identifiers.org/clinvar/343469 ^@ NM_000532.4(PCCB):c.707A>G (p.Asn236Ser) http://identifiers.org/clinvar/343719 ^@ NM_032383.4(HPS3):c.*131_*134dupCACA http://identifiers.org/clinvar/343869 ^@ NM_004733.3(SLC33A1):c.*322A>G http://identifiers.org/clinvar/354435 ^@ NM_004385.4(VCAN):c.6672T>C (p.Asp2224=) http://identifiers.org/clinvar/354585 ^@ NM_002397.4(MEF2C):c.480T>C (p.Pro160=) http://identifiers.org/clinvar/354685 ^@ NM_005068.2(SIM1):c.743+10C>G http://identifiers.org/clinvar/354785 ^@ NM_020381.3(PDSS2):c.415A>G (p.Ser139Gly) http://identifiers.org/clinvar/354985 ^@ NM_001242957.1(MAK):c.-236G>A http://identifiers.org/clinvar/355035 ^@ NM_014845.5(FIG4):c.243A>G (p.Lys81=) http://identifiers.org/clinvar/355236 ^@ NM_000426.3(LAMA2):c.-72G>A http://identifiers.org/clinvar/355386 ^@ NM_006208.2(ENPP1):c.*1240T>C http://identifiers.org/clinvar/351448 ^@ NM_054027.4(ANKH):c.*2392G>T http://identifiers.org/clinvar/351898 ^@ NM_024577.3(SH3TC2):c.3433G>T (p.Ala1145Ser) http://identifiers.org/clinvar/352046 ^@ NM_000112.3(SLC26A2):c.*1024T>G http://identifiers.org/clinvar/352196 ^@ NM_001135243.1(TCOF1):c.634G>A (p.Val212Met) http://identifiers.org/clinvar/356325 ^@ NM_006929.4(SKIV2L):c.1173G>A (p.Pro391=) http://identifiers.org/clinvar/352096 ^@ NM_000112.3(SLC26A2):c.*5338T>C http://identifiers.org/clinvar/356475 ^@ NM_003322.5(TULP1):c.192T>C (p.Ala64=) http://identifiers.org/clinvar/359974 ^@ NM_006735.3(HOXA2):c.*214C>A http://identifiers.org/clinvar/360024 ^@ NM_002047.3(GARS):c.*73A>G http://identifiers.org/clinvar/352346 ^@ NM_000337.5(SGCD):c.*767A>T http://identifiers.org/clinvar/360124 ^@ NM_133468.4(BMPER):c.*278T>C http://identifiers.org/clinvar/360224 ^@ NM_000168.5(GLI3):c.4356G>A (p.Gln1452=) http://identifiers.org/clinvar/360274 ^@ NM_000290.3(PGAM2):c.375G>A (p.Pro125=) http://identifiers.org/clinvar/352646 ^@ NM_000816.3(GABRG2):c.*32T>C http://identifiers.org/clinvar/360374 ^@ NM_014855.2(AP5Z1):c.*1065C>T http://identifiers.org/clinvar/352746 ^@ NM_001017995.2(SH3PXD2B):c.*3277T>C http://identifiers.org/clinvar/361224 ^@ NM_178857.5(RP1L1):c.6380C>T (p.Pro2127Leu) http://identifiers.org/clinvar/306258 ^@ NM_024698.5(SLC25A22):c.861C>T (p.Gly287=) http://identifiers.org/clinvar/306459 ^@ NM_005591.3(MRE11):c.*1766G>C http://identifiers.org/clinvar/306509 ^@ NM_016156.5(MTMR2):c.*1822T>G http://identifiers.org/clinvar/361074 ^@ NM_017890.4(VPS13B):c.7955A>C (p.Asn2652Thr) http://identifiers.org/clinvar/306759 ^@ NM_153694.4(SYCP3):c.*205G>A http://identifiers.org/clinvar/307059 ^@ NM_052845.3(MMAB):c.*386_*387delAG http://identifiers.org/clinvar/307209 ^@ NM_001082538.2(TCTN1):c.987C>T (p.Tyr329=) http://identifiers.org/clinvar/307359 ^@ NM_005996.3(TBX3):c.1695C>A (p.His565Gln) http://identifiers.org/clinvar/307409 ^@ NM_014365.2(HSPB8):c.-489G>A http://identifiers.org/clinvar/364812 ^@ NM_000177.4(GSN):c.1392A>G (p.Thr464=) http://identifiers.org/clinvar/364912 ^@ NM_002316.3(LMX1B):c.*708G>A http://identifiers.org/clinvar/301015 ^@ NM_007055.3(POLR3A):c.*1015T>C http://identifiers.org/clinvar/364862 ^@ NM_000550.2(TYRP1):c.*259T>C http://identifiers.org/clinvar/365112 ^@ NM_003863.3(DPM2):c.*49G>T http://identifiers.org/clinvar/365162 ^@ NM_001130438.2(SPTAN1):c.2940G>C (p.Glu980Asp) http://identifiers.org/clinvar/301165 ^@ NM_000429.2(MAT1A):c.*982A>T http://identifiers.org/clinvar/365362 ^@ NM_015046.5(SETX):c.3103A>G (p.Lys1035Glu) http://identifiers.org/clinvar/365412 ^@ NM_000368.4(TSC1):c.*3737C>A http://identifiers.org/clinvar/301315 ^@ NM_033100.3(CDHR1):c.*2704_*2715delGGAGCTGTAGCCinsATTA http://identifiers.org/clinvar/365562 ^@ NM_139025.4(ADAMTS13):c.3348G>A (p.Leu1116=) http://identifiers.org/clinvar/301465 ^@ NM_000314.6(PTEN):c.*1565C>A http://identifiers.org/clinvar/365212 ^@ NM_000113.2(TOR1A):c.*961T>A http://identifiers.org/clinvar/301665 ^@ NM_016341.3(PLCE1):c.-616_-615dupAC http://identifiers.org/clinvar/365512 ^@ NM_000368.4(TSC1):c.2626-3_2626-2insTA http://identifiers.org/clinvar/366013 ^@ NM_024757.4(EHMT1):c.2142A>G (p.Gly714=) http://identifiers.org/clinvar/366163 ^@ NM_144966.5(FREM1):c.1047G>A (p.Leu349=) http://identifiers.org/clinvar/365812 ^@ NM_014564.4(LHX3):c.*55G>A http://identifiers.org/clinvar/366063 ^@ NM_144966.5(FREM1):c.*2207G>A http://identifiers.org/clinvar/366852 ^@ NM_012203.1(GRHPR):c.286C>T (p.Arg96Cys) http://identifiers.org/clinvar/302854 ^@ NM_005188.3(CBL):c.*4863dupT http://identifiers.org/clinvar/302904 ^@ NM_005188.3(CBL):c.*7659C>A http://identifiers.org/clinvar/312802 ^@ NM_020366.3(RPGRIP1):c.3814G>A (p.Val1272Ile) http://identifiers.org/clinvar/314791 ^@ NM_018418.4(SPATA7):c.1606A>G (p.Thr536Ala) http://identifiers.org/clinvar/313052 ^@ NM_025152.2(NUBPL):c.*1121_*1123delTCA http://identifiers.org/clinvar/322526 ^@ NM_001045.5(SLC6A4):c.*350G>A http://identifiers.org/clinvar/313152 ^@ NM_006194.3(PAX9):c.-626dupC http://identifiers.org/clinvar/341530 ^@ NM_002473.5(MYH9):c.1098C>T (p.Pro366=) http://identifiers.org/clinvar/341580 ^@ NM_153609.3(TMPRSS6):c.2132G>T (p.Arg711Leu) http://identifiers.org/clinvar/341680 ^@ NM_022098.3(XPNPEP3):c.*114G>A http://identifiers.org/clinvar/341780 ^@ NM_001429.3(EP300):c.667C>G (p.Leu223Val) http://identifiers.org/clinvar/315441 ^@ NM_022807.4(SNRPN):c.-295+8C>G http://identifiers.org/clinvar/341880 ^@ NM_052945.3(TNFRSF13C):c.252G>A (p.Leu84=) http://identifiers.org/clinvar/315541 ^@ NM_002420.5(TRPM1):c.-37C>T http://identifiers.org/clinvar/341980 ^@ NM_006953.3(UPK3A):c.545G>A (p.Trp182Ter) http://identifiers.org/clinvar/315591 ^@ NM_133647.1(SLC12A6):c.*1201T>C http://identifiers.org/clinvar/342030 ^@ NM_024105.3(ALG12):c.*484dupC http://identifiers.org/clinvar/323376 ^@ NM_000151.3(G6PC):c.*745G>T http://identifiers.org/clinvar/313802 ^@ NM_002382.4(MAX):c.*565G>A http://identifiers.org/clinvar/315741 ^@ NM_152594.2(SPRED1):c.*256C>T http://identifiers.org/clinvar/367881 ^@ NM_002351.4(SH2D1A):c.*862T>A http://identifiers.org/clinvar/323726 ^@ NM_005910.5(MAPT):c.*3848A>G http://identifiers.org/clinvar/315991 ^@ NM_173500.3(TTBK2):c.1930G>C (p.Ala644Pro) http://identifiers.org/clinvar/323976 ^@ NM_000080.3(CHRNE):c.1446G>A (p.Val482=) http://identifiers.org/clinvar/368181 ^@ NM_014271.3(IL1RAPL1):c.-402G>A http://identifiers.org/clinvar/314741 ^@ NM_000153.3(GALC):c.*590T>C http://identifiers.org/clinvar/314891 ^@ NM_006329.3(FBLN5):c.-428G>C http://identifiers.org/clinvar/317030 ^@ NM_014249.3(NR2E3):c.*563_*566delAAAA http://identifiers.org/clinvar/314941 ^@ NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) http://identifiers.org/clinvar/317180 ^@ NM_003978.4(PSTPIP1):c.795C>T (p.Ile265=) http://identifiers.org/clinvar/315041 ^@ NM_000295.4(SERPINA1):c.-208C>T http://identifiers.org/clinvar/317230 ^@ NM_000326.4(RLBP1):c.*167T>G http://identifiers.org/clinvar/324974 ^@ NM_018714.2(COG1):c.2620-10T>G http://identifiers.org/clinvar/317481 ^@ NM_000875.4(IGF1R):c.*447C>T http://identifiers.org/clinvar/317581 ^@ NM_000875.4(IGF1R):c.*4466G>C http://identifiers.org/clinvar/317631 ^@ NM_000875.4(IGF1R):c.*6096G>A http://identifiers.org/clinvar/315141 ^@ NM_139057.3(ADAMTS17):c.*2479C>G http://identifiers.org/clinvar/325324 ^@ NM_004035.6(ACOX1):c.*3529_*3531dupTTT http://identifiers.org/clinvar/315691 ^@ NM_005159.4(ACTC1):c.*472T>C http://identifiers.org/clinvar/315241 ^@ NM_139057.3(ADAMTS17):c.*172_*174delGTT http://identifiers.org/clinvar/315791 ^@ NM_152594.2(SPRED1):c.*5232G>A http://identifiers.org/clinvar/317731 ^@ NM_000246.3(CIITA):c.*158G>A http://identifiers.org/clinvar/315891 ^@ NM_000070.2(CAPN3):c.451C>G (p.His151Asp) http://identifiers.org/clinvar/315941 ^@ NM_138477.2(CDAN1):c.2007+11G>A http://identifiers.org/clinvar/325574 ^@ NM_006640.4(SEPT9):c.*11dupG http://identifiers.org/clinvar/317931 ^@ NM_001287.5(CLCN7):c.*543C>T http://identifiers.org/clinvar/318082 ^@ NM_001143979.1(NDE1):c.947+6742G>C http://identifiers.org/clinvar/325925 ^@ NM_001139.2(ALOX12B):c.163G>A (p.Val55Met) http://identifiers.org/clinvar/371946 ^@ NM_000077.4(CDKN2A):c.151-14G>A http://identifiers.org/clinvar/371896 ^@ NM_006231.3(POLE):c.2468+19G>A http://identifiers.org/clinvar/371846 ^@ NM_000059.3(BRCA2):c.3076_3077delAA (p.Lys1026Glufs) http://identifiers.org/clinvar/372046 ^@ NM_024675.3(PALB2):c.2748+13C>G http://identifiers.org/clinvar/372096 ^@ NM_032043.2(BRIP1):c.1935+11G>A http://identifiers.org/clinvar/371996 ^@ NM_001256849.1(POLD1):c.3068-14C>T http://identifiers.org/clinvar/372158 ^@ NM_003038.4(SLC1A4):c.1369C>T (p.Arg457Trp) http://identifiers.org/clinvar/372225 ^@ NM_176869.2(PPA2):c.380G>T (p.Arg127Leu) http://identifiers.org/clinvar/372279 ^@ NM_024854.3(PYROXD1):c.1116G>C (p.Gln372His) http://identifiers.org/clinvar/373691 ^@ NM_001039550.1(DNAJB2):c.200G>A (p.Arg67His) http://identifiers.org/clinvar/373441 ^@ NM_212556.3(ASB18):c.1286G>A (p.Arg429His) http://identifiers.org/clinvar/373541 ^@ NM_000038.5(APC):c.3607G>T (p.Gly1203Ter) http://identifiers.org/clinvar/373241 ^@ NM_000258.2(MYL3):c.482G>A (p.Gly161Asp) http://identifiers.org/clinvar/373341 ^@ NM_002020.4(FLT4):c.1079C>T (p.Ala360Val) http://identifiers.org/clinvar/373591 ^@ NM_005670.3(EPM2A):c.435C>A (p.Phe145Leu) http://identifiers.org/clinvar/372332 ^@ NM_000094.3(COL7A1):c.3840delC (p.Gly1281Valfs) http://identifiers.org/clinvar/373791 ^@ NM_002290.4(LAMA4):c.1577C>A (p.Ser526Tyr) http://identifiers.org/clinvar/372433 ^@ NM_006158.4(NEFL):c.294T>G (p.Asn98Lys) http://identifiers.org/clinvar/372643 ^@ NM_130799.2(MEN1):c.207delC (p.Asp70Thrfs) http://identifiers.org/clinvar/373741 ^@ NM_004517.3(ILK):c.601G>A (p.Glu201Lys) http://identifiers.org/clinvar/372489 ^@ NM_000448.2(RAG1):c.2981A>G (p.His994Arg) http://identifiers.org/clinvar/372542 ^@ NM_006009.3(TUBA1A):c.641G>A (p.Arg214His) http://identifiers.org/clinvar/373391 ^@ NM_002427.3(MMP13):c.1052-2A>C http://identifiers.org/clinvar/373491 ^@ NM_000719.6(CACNA1C):c.3367C>T (p.Arg1123Cys) http://identifiers.org/clinvar/373641 ^@ NM_001376.4(DYNC1H1):c.2971A>G (p.Met991Val) http://identifiers.org/clinvar/372382 ^@ NM_175914.4(HNF4A):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/372592 ^@ NM_001399.4(EDA):c.1123A>G (p.Lys375Glu) http://identifiers.org/clinvar/373841 ^@ NG_005905.2:g.110447_115471del5025 http://identifiers.org/clinvar/373892 ^@ NG_005905.2:g.(147057_150288)_(160933_166866)del http://identifiers.org/clinvar/374144 ^@ NM_001244810.1(FOXP1):c.1396C>G (p.Pro466Ala) http://identifiers.org/clinvar/373944 ^@ NM_001142446.1(ANK1):c.2047A>G (p.Met683Val) http://identifiers.org/clinvar/374194 ^@ NM_000051.3(ATM):c.687delA (p.Asn230Ilefs) http://identifiers.org/clinvar/373994 ^@ NM_025114.3(CEP290):c.2941C>T (p.Gln981Ter) http://identifiers.org/clinvar/374044 ^@ NM_000296.3(PKD1):c.9185T>A (p.Val3062Asp) http://identifiers.org/clinvar/374094 ^@ NM_004208.3(AIFM1):c.1019T>C (p.Met340Thr) http://identifiers.org/clinvar/374248 ^@ NM_001346813.1(ARID1B):c.3406_3407dupAA (p.Pro1137Serfs) http://identifiers.org/clinvar/374318 ^@ NM_017780.3(CHD7):c.8063T>G (p.Ile2688Arg) http://identifiers.org/clinvar/374383 ^@ NM_016373.3(WWOX):c.1231_1233delAGC (p.Ser411del) http://identifiers.org/clinvar/374436 ^@ NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) http://identifiers.org/clinvar/374486 ^@ NM_000334.4(SCN4A):c.3901_3903delCAG (p.Gln1301del) http://identifiers.org/clinvar/374536 ^@ NM_004612.3(TGFBR1):c.345A>G (p.Val115=) http://identifiers.org/clinvar/374586 ^@ NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) http://identifiers.org/clinvar/374636 ^@ NM_004715.4(CTDP1):c.1961C>T (p.Thr654Met) http://identifiers.org/clinvar/374686 ^@ NM_020366.3(RPGRIP1):c.268G>A (p.Val90Ile) http://identifiers.org/clinvar/374736 ^@ NM_001242897.1(DEPDC5):c.2052C>T (p.Asp684=) http://identifiers.org/clinvar/374796 ^@ NM_004958.3(MTOR):c.4447T>C (p.Cys1483Arg) http://identifiers.org/clinvar/375349 ^@ NM_000520.5(HEXA):c.316C>T (p.Gln106Ter) http://identifiers.org/clinvar/375400 ^@ NM_015160.2(PMPCA):c.64C>T (p.Arg22Trp) http://identifiers.org/clinvar/375460 ^@ NM_018136.4(ASPM):c.9923G>T (p.Arg3308Leu) http://identifiers.org/clinvar/375523 ^@ NM_003159.2(CDKL5):c.2641C>T (p.Gln881Ter) http://identifiers.org/clinvar/380145 ^@ NM_182916.2(TRNT1):c.948A>G (p.Ala316=) http://identifiers.org/clinvar/388731 ^@ NM_024592.4(SRD5A3):c.-6C>T http://identifiers.org/clinvar/385082 ^@ NM_005051.2(QARS):c.1527-18C>T http://identifiers.org/clinvar/377495 ^@ NM_000038.5(APC):c.8291C>G (p.Ser2764Cys) http://identifiers.org/clinvar/389331 ^@ NM_001999.3(FBN2):c.5674+18T>G http://identifiers.org/clinvar/384882 ^@ NM_024582.4(FAT4):c.14682C>T (p.His4894=) http://identifiers.org/clinvar/391470 ^@ NM_004082.4(DCTN1):c.557C>T (p.Pro186Leu) http://identifiers.org/clinvar/384532 ^@ NM_000038.5(APC):c.4686C>T (p.Asp1562=) http://identifiers.org/clinvar/379494 ^@ NM_014049.4(ACAD9):c.662A>G (p.Asn221Ser) http://identifiers.org/clinvar/382138 ^@ NM_001098511.2(KIF2A):c.936T>C (p.Tyr312=) http://identifiers.org/clinvar/384732 ^@ NM_032446.2(MEGF10):c.2757C>T (p.Asn919=) http://identifiers.org/clinvar/385182 ^@ NM_003060.3(SLC22A5):c.394-18C>G http://identifiers.org/clinvar/380245 ^@ NM_000249.3(MLH1):c.253C>T (p.Leu85=) http://identifiers.org/clinvar/378642 ^@ NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) http://identifiers.org/clinvar/393159 ^@ NM_024577.3(SH3TC2):c.904A>G (p.Ile302Val) http://identifiers.org/clinvar/378541 ^@ NM_198056.2(SCN5A):c.1944G>A (p.Pro648=) http://identifiers.org/clinvar/385032 ^@ NM_001085411.2(NADK2):c.-48T>C http://identifiers.org/clinvar/391670 ^@ NM_002454.2(MTRR):c.1086G>A (p.Ala362=) http://identifiers.org/clinvar/383591 ^@ NM_005654.5(NR2F1):c.60C>G (p.Pro20=) http://identifiers.org/clinvar/381687 ^@ NM_000441.1(SLC26A4):c.2153T>C (p.Phe718Ser) http://identifiers.org/clinvar/390370 ^@ NM_000426.3(LAMA2):c.7536C>T (p.Pro2512=) http://identifiers.org/clinvar/390520 ^@ NM_005670.3(EPM2A):c.801C>T (p.Asn267=) http://identifiers.org/clinvar/389481 ^@ NM_020745.3(AARS2):c.1301-13T>G http://identifiers.org/clinvar/389731 ^@ NM_012123.3(MTO1):c.1044G>T (p.Gly348=) http://identifiers.org/clinvar/385332 ^@ NM_014476.5(PDLIM3):c.398+9C>T http://identifiers.org/clinvar/381287 ^@ NM_018238.3(AGK):c.877+15G>A http://identifiers.org/clinvar/391220 ^@ NM_000083.2(CLCN1):c.1583-12G>A http://identifiers.org/clinvar/383691 ^@ NM_000742.3(CHRNA2):c.294+20G>A http://identifiers.org/clinvar/379644 ^@ NM_006904.6(PRKDC):c.2934+5G>C http://identifiers.org/clinvar/379094 ^@ NM_014141.5(CNTNAP2):c.-35G>T http://identifiers.org/clinvar/382239 ^@ NM_002485.4(NBN):c.1397+12A>T http://identifiers.org/clinvar/385732 ^@ NM_002485.4(NBN):c.24G>A (p.Ala8=) http://identifiers.org/clinvar/378692 ^@ NM_003165.3(STXBP1):c.1548-15C>A http://identifiers.org/clinvar/391720 ^@ NM_013318.3(PRRC2B):c.4901-5G>C http://identifiers.org/clinvar/388881 ^@ NM_003172.3(SURF1):c.833+13C>T http://identifiers.org/clinvar/389681 ^@ NM_032119.3(ADGRV1):c.9496T>G (p.Tyr3166Asp) http://identifiers.org/clinvar/393209 ^@ NM_000445.4(PLEC):c.9268G>A (p.Gly3090Ser) http://identifiers.org/clinvar/389231 ^@ NM_000426.3(LAMA2):c.4176+9C>T http://identifiers.org/clinvar/390970 ^@ NM_017617.4(NOTCH1):c.2970-20G>A http://identifiers.org/clinvar/390420 ^@ NM_001167734.1(VARS2):c.1647-5G>A http://identifiers.org/clinvar/383792 ^@ NM_178012.4(TUBB2B):c.354T>C (p.Asp118=) http://identifiers.org/clinvar/381938 ^@ NM_000136.2(FANCC):c.138G>A (p.Arg46=) http://identifiers.org/clinvar/385482 ^@ NM_004408.3(DNM1):c.1558-3C>T http://identifiers.org/clinvar/381437 ^@ NM_213649.1(SFXN4):c.747G>A (p.Thr249=) http://identifiers.org/clinvar/379794 ^@ NM_004092.3(ECHS1):c.476A>G (p.Gln159Arg) http://identifiers.org/clinvar/385432 ^@ NM_000050.4(ASS1):c.765C>T (p.Asn255=) http://identifiers.org/clinvar/133034 ^@ NM_000540.2(RYR1):c.1218C>T (p.Thr406=) http://identifiers.org/clinvar/133084 ^@ NM_000540.2(RYR1):c.14647-1876C>T http://identifiers.org/clinvar/133134 ^@ NM_000540.2(RYR1):c.4719G>A (p.Pro1573=) http://identifiers.org/clinvar/133184 ^@ NM_000540.2(RYR1):c.7085A>G (p.Glu2362Gly) http://identifiers.org/clinvar/133234 ^@ NM_000540.2(RYR1):c.873G>A (p.Ala291=) http://identifiers.org/clinvar/133313 ^@ NM_206933.2(USH2A):c.7475C>A (p.Ser2492Ter) http://identifiers.org/clinvar/133376 ^@ NM_014225.5(PPP2R1A):c.78+30A>C http://identifiers.org/clinvar/133426 ^@ NM_000548.4(TSC2):c.336+197C>G http://identifiers.org/clinvar/133476 ^@ NM_004304.4(ALK):c.4587C>G (p.Asp1529Glu) http://identifiers.org/clinvar/133527 ^@ NM_000038.5(APC):c.3197G>A (p.Arg1066Lys) http://identifiers.org/clinvar/133577 ^@ NM_015338.5(ASXL1):c.1429G>C (p.Glu477Gln) http://identifiers.org/clinvar/133627 ^@ NM_000051.3(ATM):c.5948G= (p.Ser1983=) http://identifiers.org/clinvar/133677 ^@ NM_001123383.1(BCOR):c.11C>T (p.Ala4Val) http://identifiers.org/clinvar/133728 ^@ NM_000059.3(BRCA2):c.2892A>T (p.Lys964Asn) http://identifiers.org/clinvar/133781 ^@ NM_001211.5(BUB1B):c.1232C>G (p.Ser411Cys) http://identifiers.org/clinvar/133831 ^@ NM_001783.3(CD79A):c.28G>A (p.Ala10Thr) http://identifiers.org/clinvar/133881 ^@ NM_000077.4(CDKN2A):c.458-492G>C http://identifiers.org/clinvar/133931 ^@ NM_004380.2(CREBBP):c.271G>A (p.Ala91Thr) http://identifiers.org/clinvar/133981 ^@ NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr) http://identifiers.org/clinvar/134031 ^@ NM_005228.4(EGFR):c.3485G>A (p.Ser1162Asn) http://identifiers.org/clinvar/134083 ^@ NM_001005862.2(ERBB2):c.3530C>T (p.Pro1177Leu) http://identifiers.org/clinvar/134133 ^@ NM_005236.2(ERCC4):c.176T>A (p.Val59Glu) http://identifiers.org/clinvar/135082 ^@ NM_001198.3(PRDM1):c.1148C>T (p.Thr383Met) http://identifiers.org/clinvar/135752 ^@ NM_000051.3(ATM):c.4056T>C (p.His1352=) http://identifiers.org/clinvar/135810 ^@ NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) http://identifiers.org/clinvar/135861 ^@ NM_000251.2(MSH2):c.307T>C (p.Tyr103His) http://identifiers.org/clinvar/135911 ^@ NM_000314.6(PTEN):c.579G>A (p.Leu193=) http://identifiers.org/clinvar/135961 ^@ NM_001127500.2(MET):c.1510G>T (p.Val504Phe) http://identifiers.org/clinvar/136013 ^@ NM_001166110.1(PALLD):c.850G>T (p.Val284Leu) http://identifiers.org/clinvar/136063 ^@ NM_004360.4(CDH1):c.2020A>T (p.Asn674Tyr) http://identifiers.org/clinvar/136114 ^@ NM_020975.4(RET):c.2997G>A (p.Ala999=) http://identifiers.org/clinvar/136164 ^@ NM_130799.2(MEN1):c.1170G>C (p.Pro390=) http://identifiers.org/clinvar/136225 ^@ NM_020745.3(AARS2):c.861C>A (p.Asp287Glu) http://identifiers.org/clinvar/136276 ^@ NM_174917.4(ACSF3):c.369C>A (p.Val123=) http://identifiers.org/clinvar/136326 ^@ NM_004208.3(AIFM1):c.103C>T (p.Pro35Ser) http://identifiers.org/clinvar/136377 ^@ NM_001182.4(ALDH7A1):c.1317+20G>A http://identifiers.org/clinvar/186016 ^@ NM_007294.3(BRCA1):c.4523G>A (p.Trp1508Ter) http://identifiers.org/clinvar/186266 ^@ NM_032043.2(BRIP1):c.3296T>G (p.Leu1099Arg) http://identifiers.org/clinvar/187218 ^@ NM_032043.2(BRIP1):c.2258-3A>G http://identifiers.org/clinvar/185127 ^@ NM_000455.4(STK11):c.-1C>T http://identifiers.org/clinvar/184627 ^@ NM_000455.4(STK11):c.1276C>A (p.Arg426=) http://identifiers.org/clinvar/186366 ^@ NM_007194.3(CHEK2):c.1052A>C (p.Glu351Ala) http://identifiers.org/clinvar/188192 ^@ NM_015272.4(RPGRIP1L):c.1709dupA (p.Asp571Glyfs) http://identifiers.org/clinvar/188245 ^@ NM_020433.4(JPH2):c.1204G>A (p.Glu402Lys) http://identifiers.org/clinvar/188810 ^@ NM_000128.3(F11):c.325G>A (p.Ala109Thr) http://identifiers.org/clinvar/188760 ^@ NM_000128.3(F11):c.1186C>T (p.Arg396Cys) http://identifiers.org/clinvar/189062 ^@ NM_006261.4(PROP1):c.310delC (p.Arg104Glyfs) http://identifiers.org/clinvar/188961 ^@ NM_000051.3(ATM):c.802C>T (p.Gln268Ter) http://identifiers.org/clinvar/189162 ^@ NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/188710 ^@ NM_014363.5(SACS):c.10466_10467delCT (p.Ser3489Leufs) http://identifiers.org/clinvar/189112 ^@ NM_000053.3(ATP7B):c.1745_1746delTA (p.Ile582Argfs) http://identifiers.org/clinvar/188860 ^@ NM_000153.3(GALC):c.489G>A (p.Trp163Ter) http://identifiers.org/clinvar/189012 ^@ NM_000159.3(GCDH):c.533G>A (p.Gly178Glu) http://identifiers.org/clinvar/188911 ^@ NM_000071.2(CBS):c.667-14_667-7del8 http://identifiers.org/clinvar/189228 ^@ NM_014080.4(DUOX2):c.3847+2T>C http://identifiers.org/clinvar/189280 ^@ NM_014795.3(ZEB2):c.1416_1420delCAGGC (p.Arg473Lysfs) http://identifiers.org/clinvar/189339 ^@ NM_014822.3(SEC24D):c.3044C>T (p.Ser1015Phe) http://identifiers.org/clinvar/189492 ^@ NM_000314.6(PTEN):c.-920G>A http://identifiers.org/clinvar/189430 ^@ NM_000314.6(PTEN):c.21_37del17 (p.Ile8Lysfs) http://identifiers.org/clinvar/189652 ^@ NM_004992.3(MECP2):c.1121_1191del71 (p.Glu374Glyfs) http://identifiers.org/clinvar/189752 ^@ NM_004992.3(MECP2):c.1159_1160ins300 (p.?) http://identifiers.org/clinvar/189602 ^@ NM_003159.2(CDKL5):c.-189C>T http://identifiers.org/clinvar/189552 ^@ NM_003159.2(CDKL5):c.1071delC (p.Asp357Glufs) http://identifiers.org/clinvar/189702 ^@ NM_004992.3:c.343_1182del http://identifiers.org/clinvar/189835 ^@ NM_015929.3(LIPT1):c.212C>T (p.Ser71Phe) http://identifiers.org/clinvar/189986 ^@ NM_001165963.1(SCN1A):c.3757G>T (p.Glu1253Ter) http://identifiers.org/clinvar/189886 ^@ NM_001165963.1(SCN1A):c.2134C>T (p.Arg712Ter) http://identifiers.org/clinvar/189936 ^@ NM_001165963.1(SCN1A):c.1662+3A>G http://identifiers.org/clinvar/190102 ^@ NM_001605.2(AARS):c.242A>C (p.Lys81Thr) http://identifiers.org/clinvar/190171 ^@ NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs) http://identifiers.org/clinvar/190222 ^@ NM_006493.2(CLN5):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/190301 ^@ RPS6KA3, 7.2-KB DEL http://identifiers.org/clinvar/190355 ^@ NM_002055.4(GFAP):c.1073C>T (p.Ala358Val) http://identifiers.org/clinvar/228517 ^@ NM_000739.2(CHRM2):c.860C>G (p.Thr287Ser) http://identifiers.org/clinvar/228617 ^@ NM_203447.3(DOCK8):c.5207C>G (p.Ala1736Gly) http://identifiers.org/clinvar/226795 ^@ NM_017433.4(MYO3A):c.3133G>A (p.Val1045Met) http://identifiers.org/clinvar/226895 ^@ NM_001277269.1(OTOG):c.4940C>T (p.Pro1647Leu) http://identifiers.org/clinvar/228867 ^@ NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=) http://identifiers.org/clinvar/228367 ^@ NM_000256.3(MYBPC3):c.1075G>T (p.Glu359Ter) http://identifiers.org/clinvar/228567 ^@ NM_019887.5(DIABLO):c.-11C>T http://identifiers.org/clinvar/226945 ^@ NM_173591.3(OTOGL):c.3862T>A (p.Trp1288Arg) http://identifiers.org/clinvar/228917 ^@ NM_000257.3(MYH7):c.5762G>C (p.Arg1921Pro) http://identifiers.org/clinvar/227967 ^@ NM_153700.2(STRC):c.4157T>C (p.Val1386Ala) http://identifiers.org/clinvar/229067 ^@ NM_144672.3(OTOA):c.1807G>T (p.Val603Phe) http://identifiers.org/clinvar/228967 ^@ NM_016239.3(MYO15A):c.8329T>C (p.Phe2777Leu) http://identifiers.org/clinvar/226495 ^@ NM_017950.3(CCDC40):c.51G>A (p.Ser17=) http://identifiers.org/clinvar/229017 ^@ NM_003803.3(MYOM1):c.1668delG (p.Trp556Cysfs) http://identifiers.org/clinvar/228817 ^@ NM_144612.6(LOXHD1):c.210G>T (p.Glu70Asp) http://identifiers.org/clinvar/226745 ^@ NM_024729.3(MYH14):c.4630-5A>G http://identifiers.org/clinvar/226545 ^@ NM_000395.2(CSF2RB):c.1278C>T (p.Ser426=) http://identifiers.org/clinvar/228667 ^@ NM_000117.2(EMD):c.711C>G (p.Ile237Met) http://identifiers.org/clinvar/234795 ^@ NM_000179.2(MSH6):c.2291C>T (p.Thr764Ile) http://identifiers.org/clinvar/234896 ^@ NM_000179.2(MSH6):c.2693C>G (p.Pro898Arg) http://identifiers.org/clinvar/234545 ^@ NM_000249.3(MLH1):c.678-4A>G http://identifiers.org/clinvar/234645 ^@ NM_000136.2(FANCC):c.175dupA (p.Thr59Asnfs) http://identifiers.org/clinvar/234695 ^@ NM_000314.6(PTEN):c.-801G>A http://identifiers.org/clinvar/234266 ^@ NM_000051.3(ATM):c.4078A>T (p.Ser1360Cys) http://identifiers.org/clinvar/234375 ^@ NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) http://identifiers.org/clinvar/234846 ^@ NM_000834.3(GRIN2B):c.251G>A (p.Arg84His) http://identifiers.org/clinvar/234595 ^@ NM_004360.4(CDH1):c.468G>A (p.Trp156Ter) http://identifiers.org/clinvar/234745 ^@ NM_032043.2(BRIP1):c.1776G>A (p.Trp592Ter) http://identifiers.org/clinvar/234443 ^@ NM_004655.3(AXIN2):c.563A>G (p.Gln188Arg) http://identifiers.org/clinvar/234322 ^@ NM_000214.2(JAG1):c.2304C>A (p.Cys768Ter) http://identifiers.org/clinvar/234494 ^@ NM_007194.3(CHEK2):c.372delC (p.Phe125Leufs) http://identifiers.org/clinvar/232218 ^@ NM_001128425.1(MUTYH):c.836A>G (p.Asn279Ser) http://identifiers.org/clinvar/232418 ^@ NM_000465.3(BARD1):c.838_839delTT (p.Leu280Thrfs) http://identifiers.org/clinvar/231668 ^@ NM_000465.3(BARD1):c.48C>T (p.Ser16=) http://identifiers.org/clinvar/233861 ^@ NM_000251.2(MSH2):c.-68-77C>A http://identifiers.org/clinvar/231618 ^@ NM_000251.2(MSH2):c.701C>G (p.Thr234Arg) http://identifiers.org/clinvar/234161 ^@ NM_000251.2(MSH2):c.1791T>C (p.Asp597=) http://identifiers.org/clinvar/232518 ^@ NM_000251.2(MSH2):c.1946C>T (p.Ala649Val) http://identifiers.org/clinvar/232869 ^@ NM_000179.2(MSH6):c.2331G>A (p.Trp777Ter) http://identifiers.org/clinvar/232268 ^@ NM_000249.3(MLH1):c.767G>A (p.Cys256Tyr) http://identifiers.org/clinvar/231818 ^@ NM_000249.3(MLH1):c.1348G>T (p.Asp450Tyr) http://identifiers.org/clinvar/264410 ^@ NM_005902.3(SMAD3):c.723C>T (p.Asn241=) http://identifiers.org/clinvar/264360 ^@ NM_002474.2(MYH11):c.412A>T (p.Ile138Phe) http://identifiers.org/clinvar/264310 ^@ NM_017636.3(TRPM4):c.597C>T (p.Thr199=) http://identifiers.org/clinvar/263954 ^@ NM_001456.3(FLNA):c.885_892delCAACATGG (p.Asn296Glufs) http://identifiers.org/clinvar/264725 ^@ NM_001242896.1(DEPDC5):c.856C>T (p.Arg286Ter) http://identifiers.org/clinvar/264980 ^@ NM_000059.3(BRCA2):c.426-405A>G http://identifiers.org/clinvar/264880 ^@ NM_000059.3(BRCA2):c.7008-3059dup http://identifiers.org/clinvar/264930 ^@ NM_000059.3(BRCA2):c.9256+5182C>T http://identifiers.org/clinvar/264830 ^@ NM_007294.3(BRCA1):c.5277+186T>C http://identifiers.org/clinvar/264780 ^@ NM_007294.3(BRCA1):c.134+2999del http://identifiers.org/clinvar/265390 ^@ NM_000104.3(CYP1B1):c.830delT (p.Leu277Terfs) http://identifiers.org/clinvar/265085 ^@ NM_001904.3(CTNNB1):c.1603C>T (p.Arg535Ter) http://identifiers.org/clinvar/265032 ^@ NM_001182.4(ALDH7A1):c.529G>C (p.Ala177Pro) http://identifiers.org/clinvar/265239 ^@ NM_130799.2(MEN1):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/265135 ^@ NM_000131.4(F7):c.1109G>T (p.Cys370Phe) http://identifiers.org/clinvar/265340 ^@ NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter) http://identifiers.org/clinvar/265186 ^@ NM_004484.3(GPC3):c.213_214delAT (p.Cys72Leufs) http://identifiers.org/clinvar/265290 ^@ NM_000377.2(WAS):c.559+5G>C http://identifiers.org/clinvar/267282 ^@ NM_033028.4:r.118_261del http://identifiers.org/clinvar/267001 ^@ NM_000059.3(BRCA2):c.7309delA (p.Ile2437Leufs) http://identifiers.org/clinvar/267051 ^@ NM_000059.3(BRCA2):c.8049_8050insT (p.Lys2684Terfs) http://identifiers.org/clinvar/267101 ^@ NM_000059.3(BRCA2):c.8646delA (p.Lys2882Asnfs) http://identifiers.org/clinvar/267151 ^@ NM_000059.3(BRCA2):c.9311dupA (p.Phe3105Valfs) http://identifiers.org/clinvar/267220 ^@ NM_007300.3:c.4358_4484del http://identifiers.org/clinvar/267353 ^@ NM_001733.4(C1R):c.927C>G (p.Cys309Trp) http://identifiers.org/clinvar/267422 ^@ NM_017780.3(CHD7):c.3071dupC (p.Leu1025Ilefs) http://identifiers.org/clinvar/267658 ^@ NM_000059.3(BRCA2):c.682-?_793+?del http://identifiers.org/clinvar/267708 ^@ NM_000059.3(BRCA2):c.891_898delAACAGTTGins10 (p.?) http://identifiers.org/clinvar/267558 ^@ NM_007294.3(BRCA1):c.4676-?_5467+?del http://identifiers.org/clinvar/267608 ^@ NM_007294.3(BRCA1):c.594-?_4484+?del http://identifiers.org/clinvar/267508 ^@ NM_007294.3(BRCA1):c.139T>A (p.Cys47Ser) http://identifiers.org/clinvar/267787 ^@ NM_006087.3(TUBB4A):c.1091C>A (p.A364D) http://identifiers.org/clinvar/267838 ^@ 46;XY;t(2;22)(q23;q13)dn http://identifiers.org/clinvar/267888 ^@ 46;XY;t(1;6)(p32;p24) http://identifiers.org/clinvar/267938 ^@ 46;X;inv(X)(p22.31q13.1)dn http://identifiers.org/clinvar/267988 ^@ 46;XY;inv(9)(p24q12) http://identifiers.org/clinvar/268038 ^@ 46;XY;t(6;16)(p21.1;q21)dn http://identifiers.org/clinvar/268102 ^@ NM_006578.3(GNB5):c.906C>G (p.Tyr302Ter) http://identifiers.org/clinvar/268167 ^@ NM_005993.4(TBCD):c.2314C>T (p.Arg772Cys) http://identifiers.org/clinvar/291281 ^@ NM_022436.2(ABCG5):c.804C>T (p.Phe268=) http://identifiers.org/clinvar/291396 ^@ NM_001918.3(DBT):c.*6114_*6115delTT http://identifiers.org/clinvar/291446 ^@ NM_001918.3(DBT):c.*551C>T http://identifiers.org/clinvar/291496 ^@ NM_001854.3(COL11A1):c.4728G>T (p.Met1576Ile) http://identifiers.org/clinvar/291546 ^@ NM_001854.3(COL11A1):c.628A>G (p.Ile210Val) http://identifiers.org/clinvar/291596 ^@ NM_015074.3(KIF1B):c.*305C>T http://identifiers.org/clinvar/292288 ^@ NM_000302.3(PLOD1):c.742-6C>T http://identifiers.org/clinvar/292338 ^@ NM_005518.3(HMGCS2):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/292388 ^@ NM_014874.3(MFN2):c.*610delG http://identifiers.org/clinvar/292438 ^@ NM_005266.6(GJA5):c.*1211A>G http://identifiers.org/clinvar/292488 ^@ NM_005850.4(SF3B4):c.-234T>C http://identifiers.org/clinvar/292188 ^@ NM_005957.4(MTHFR):c.*2669C>G http://identifiers.org/clinvar/292688 ^@ NM_152263.3(TPM3):c.*406T>C http://identifiers.org/clinvar/292138 ^@ NM_001232.3(CASQ2):c.-212_-205dupTGTGTGTG http://identifiers.org/clinvar/292888 ^@ NM_001012331.1(NTRK1):c.1614+4A>G http://identifiers.org/clinvar/292638 ^@ NM_152263.3(TPM3):c.*4636G>A http://identifiers.org/clinvar/292238 ^@ NM_005957.4(MTHFR):c.1056C>T (p.Ser352=) http://identifiers.org/clinvar/292988 ^@ NM_003126.2(SPTA1):c.3940T>C (p.Ser1314Pro) http://identifiers.org/clinvar/293038 ^@ NM_003126.2(SPTA1):c.1533A>G (p.Ala511=) http://identifiers.org/clinvar/292738 ^@ NM_001111.4(ADAR):c.*749G>A http://identifiers.org/clinvar/292788 ^@ NM_001111.4(ADAR):c.-71T>C http://identifiers.org/clinvar/293188 ^@ NM_000702.3(ATP1A2):c.*2147T>G http://identifiers.org/clinvar/292938 ^@ NM_003126.2(SPTA1):c.6991A>G (p.Lys2331Glu) http://identifiers.org/clinvar/293438 ^@ NM_004431.4(EPHA2):c.998A>G (p.His333Arg) http://identifiers.org/clinvar/293088 ^@ NM_002241.4(KCNJ10):c.*2394T>C http://identifiers.org/clinvar/293138 ^@ NM_000702.3(ATP1A2):c.*120A>G http://identifiers.org/clinvar/293538 ^@ NM_006996.2(SLC19A2):c.-114C>T http://identifiers.org/clinvar/293238 ^@ NM_000309.3(PPOX):c.-186C>A http://identifiers.org/clinvar/293288 ^@ NM_004550.4(NDUFS2):c.*108A>T http://identifiers.org/clinvar/292838 ^@ NM_005572.3(LMNA):c.985C>A (p.Arg329Ser) http://identifiers.org/clinvar/293838 ^@ NM_000488.3(SERPINC1):c.1005G>A (p.Val335=) http://identifiers.org/clinvar/293888 ^@ NM_002065.6(GLUL):c.*2463C>A http://identifiers.org/clinvar/293938 ^@ NM_002065.6(GLUL):c.*169G>A http://identifiers.org/clinvar/293338 ^@ NM_003001.3(SDHC):c.*1012G>T http://identifiers.org/clinvar/293388 ^@ NM_006182.2(DDR2):c.*187_*188delTT http://identifiers.org/clinvar/293488 ^@ NM_005149.2(TBX19):c.*365_*366delAG http://identifiers.org/clinvar/293588 ^@ NM_000130.4(F5):c.5209-12_5209-11delCT http://identifiers.org/clinvar/294827 ^@ NM_001005337.2(PKP1):c.1934G>A (p.Arg645Lys) http://identifiers.org/clinvar/294877 ^@ NM_001005337.2(PKP1):c.*2362C>T http://identifiers.org/clinvar/295027 ^@ NM_032409.2(PINK1):c.*613A>G http://identifiers.org/clinvar/295127 ^@ NM_000228.2(LAMB3):c.858C>T (p.Ala286=) http://identifiers.org/clinvar/336193 ^@ NM_000341.3(SLC3A1):c.685C>T (p.Arg229Trp) http://identifiers.org/clinvar/336243 ^@ NM_001430.4(EPAS1):c.218-10C>A http://identifiers.org/clinvar/343419 ^@ NM_001063.3(TF):c.-117G>A http://identifiers.org/clinvar/344319 ^@ NM_020166.4(MCCC1):c.-101C>T http://identifiers.org/clinvar/335943 ^@ NM_000104.3(CYP1B1):c.*380G>A http://identifiers.org/clinvar/336343 ^@ NM_139279.5(MCFD2):c.*2121G>A http://identifiers.org/clinvar/344369 ^@ NM_000460.3(THPO):c.*35G>A http://identifiers.org/clinvar/335993 ^@ NM_005633.3(SOS1):c.*1552T>A http://identifiers.org/clinvar/336043 ^@ NM_022436.2(ABCG5):c.1155A>G (p.Ala385=) http://identifiers.org/clinvar/343619 ^@ NM_001184.3(ATR):c.1318C>T (p.Pro440Ser) http://identifiers.org/clinvar/336143 ^@ NM_133259.3(LRPPRC):c.4177T>G (p.Ser1393Ala) http://identifiers.org/clinvar/343969 ^@ NM_020800.2(IFT80):c.1316-13A>C http://identifiers.org/clinvar/336900 ^@ NM_001002755.2(NFU1):c.-166T>C http://identifiers.org/clinvar/344219 ^@ NM_031955.5(SPATA16):c.440G>A (p.Gly147Glu) http://identifiers.org/clinvar/336550 ^@ NM_001135659.2(NRXN1):c.1666C>A (p.Leu556Ile) http://identifiers.org/clinvar/336600 ^@ NM_001135659.2(NRXN1):c.-1453_-1452delCT http://identifiers.org/clinvar/337000 ^@ NM_015120.4(ALMS1):c.-64C>T http://identifiers.org/clinvar/337050 ^@ NM_080916.2(DGUOK):c.705G>A (p.Thr235=) http://identifiers.org/clinvar/344719 ^@ NM_003242.5(TGFBR2):c.*2437T>A http://identifiers.org/clinvar/336950 ^@ NM_003494.3(DYSF):c.1274C>T (p.Ala425Val) http://identifiers.org/clinvar/337200 ^@ NM_000821.6(GGCX):c.*3447delG http://identifiers.org/clinvar/337250 ^@ NM_000821.6(GGCX):c.*225G>A http://identifiers.org/clinvar/337100 ^@ NM_004082.4(DCTN1):c.-167delT http://identifiers.org/clinvar/337300 ^@ NM_198843.2(SFTPB):c.1126G>A (p.Gly376Arg) http://identifiers.org/clinvar/337350 ^@ NM_022912.2(REEP1):c.*2619A>G http://identifiers.org/clinvar/337400 ^@ NM_004836.6(EIF2AK3):c.2736C>T (p.Ser912=) http://identifiers.org/clinvar/337450 ^@ NM_017849.3(TMEM127):c.*3134C>T http://identifiers.org/clinvar/337650 ^@ NM_001298.2(CNGA3):c.-271G>A http://identifiers.org/clinvar/342430 ^@ NM_000551.3(VHL):c.*1281A>G http://identifiers.org/clinvar/342530 ^@ NM_198196.2(CD96):c.901A>G (p.Ile301Val) http://identifiers.org/clinvar/342630 ^@ NM_020754.3(ARHGAP31):c.432-7A>G http://identifiers.org/clinvar/342780 ^@ NM_001023570.3(IQCB1):c.714T>C (p.Ala238=) http://identifiers.org/clinvar/347968 ^@ NM_006017.2(PROM1):c.*667A>C http://identifiers.org/clinvar/348018 ^@ NM_001166108.1(PALLD):c.-178G>A http://identifiers.org/clinvar/343569 ^@ NM_004628.4(XPC):c.1823G>A (p.Arg608Lys) http://identifiers.org/clinvar/343369 ^@ NM_153240.4(NPHP3):c.*266G>A http://identifiers.org/clinvar/348168 ^@ NM_000860.5(HPGD):c.*1726C>T http://identifiers.org/clinvar/343519 ^@ NM_024334.2(TMEM43):c.*656G>A http://identifiers.org/clinvar/343769 ^@ NM_000096.3(CP):c.1349-13T>C http://identifiers.org/clinvar/348318 ^@ NM_207352.3(CYP4V2):c.*364T>A http://identifiers.org/clinvar/343819 ^@ NM_174878.2(CLRN1):c.-82T>C http://identifiers.org/clinvar/348418 ^@ NM_133330.2(NSD2):c.114C>T (p.Cys38=) http://identifiers.org/clinvar/343919 ^@ NM_024996.5(GFM1):c.18T>C (p.Ala6=) http://identifiers.org/clinvar/343669 ^@ NM_031850.3(AGTR1):c.413T>C (p.Ile138Thr) http://identifiers.org/clinvar/353685 ^@ NM_000163.4(GHR):c.1483C>A (p.Pro495Thr) http://identifiers.org/clinvar/353835 ^@ NM_002203.3(ITGA2):c.*2782C>G http://identifiers.org/clinvar/362223 ^@ NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) http://identifiers.org/clinvar/362423 ^@ NM_000237.2(LPL):c.*414_*418delCTCTA http://identifiers.org/clinvar/354185 ^@ NM_003719.3(PDE8B):c.*437A>G http://identifiers.org/clinvar/354485 ^@ NM_004385.4(VCAN):c.*909delG http://identifiers.org/clinvar/354535 ^@ NM_002890.2(RASA1):c.*424G>A http://identifiers.org/clinvar/354735 ^@ NM_001491.2(GCNT2):c.*2026A>G http://identifiers.org/clinvar/354835 ^@ NM_007214.4(SEC63):c.*3031delT http://identifiers.org/clinvar/363073 ^@ NM_006749.4(SLC20A2):c.1377G>T (p.Glu459Asp) http://identifiers.org/clinvar/363123 ^@ NM_018105.2(THAP1):c.*127A>T http://identifiers.org/clinvar/359524 ^@ NM_001101426.3(ISPD):c.*2368T>G http://identifiers.org/clinvar/355186 ^@ NM_000165.4(GJA1):c.*1322A>T http://identifiers.org/clinvar/359624 ^@ NM_001277115.1(DNAH11):c.4012-8G>A http://identifiers.org/clinvar/355286 ^@ NM_000426.3(LAMA2):c.6274+4C>T http://identifiers.org/clinvar/359724 ^@ NM_032581.3(FAM126A):c.*3266C>T http://identifiers.org/clinvar/355436 ^@ NM_172105.3(EYA4):c.-408G>T http://identifiers.org/clinvar/364362 ^@ NM_005502.3(ABCA1):c.*677A>G http://identifiers.org/clinvar/360324 ^@ NM_014855.2(AP5Z1):c.1132+7C>T http://identifiers.org/clinvar/360424 ^@ NM_000790.3(DDC):c.*314T>C http://identifiers.org/clinvar/360474 ^@ NM_005228.4(EGFR):c.*137G>A http://identifiers.org/clinvar/360574 ^@ NM_000048.3(ASL):c.*287C>T http://identifiers.org/clinvar/364962 ^@ NM_002316.3(LMX1B):c.*3021T>G http://identifiers.org/clinvar/360724 ^@ NM_000941.2(POR):c.*60C>T http://identifiers.org/clinvar/365012 ^@ NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) http://identifiers.org/clinvar/360824 ^@ NM_005751.4(AKAP9):c.3932T>A (p.Met1311Lys) http://identifiers.org/clinvar/356425 ^@ NM_001203245.2(RPS10):c.-19A>C http://identifiers.org/clinvar/360924 ^@ NM_000466.2(PEX1):c.2363T>C (p.Val788Ala) http://identifiers.org/clinvar/365262 ^@ NM_054012.3(ASS1):c.1015G>A (p.Ala339Thr) http://identifiers.org/clinvar/361124 ^@ NM_015713.4(RRM2B):c.*3593G>A http://identifiers.org/clinvar/356625 ^@ NM_005943.5(MOCS1):c.*1507C>T http://identifiers.org/clinvar/356375 ^@ NM_080680.2(COL11A2):c.*544C>G http://identifiers.org/clinvar/361174 ^@ NM_015713.4(RRM2B):c.*73A>T http://identifiers.org/clinvar/356525 ^@ NM_182548.3(LHFPL5):c.*485C>T http://identifiers.org/clinvar/356725 ^@ NM_002098.5(GUCA1B):c.*433A>G http://identifiers.org/clinvar/356575 ^@ NM_001145717.1(PNPLA1):c.1420G>A (p.Ala474Thr) http://identifiers.org/clinvar/365762 ^@ NM_000093.4(COL5A1):c.*866_*867insTAG http://identifiers.org/clinvar/356775 ^@ NM_000322.4(PRPH2):c.*20C>T http://identifiers.org/clinvar/366113 ^@ NM_144966.5(FREM1):c.5222C>T (p.Ser1741Phe) http://identifiers.org/clinvar/311163 ^@ NM_001846.3(COL4A2):c.3455-5C>G http://identifiers.org/clinvar/366702 ^@ NM_000155.3(GALT):c.*147A>G http://identifiers.org/clinvar/366752 ^@ NM_032634.3(PIGO):c.3177C>T (p.Ser1059=) http://identifiers.org/clinvar/367331 ^@ NM_017662.4(TRPM6):c.113+12A>C http://identifiers.org/clinvar/366802 ^@ NM_005476.5(GNE):c.*2415T>A http://identifiers.org/clinvar/367431 ^@ NM_033305.2(VPS13A):c.9314T>A (p.Leu3105His) http://identifiers.org/clinvar/367002 ^@ NM_001042413.1(GLIS3):c.82A>G (p.Ile28Val) http://identifiers.org/clinvar/303854 ^@ NM_181507.1(HPS5):c.*702A>T http://identifiers.org/clinvar/367252 ^@ NM_138691.2(TMC1):c.237-5T>A http://identifiers.org/clinvar/312102 ^@ NM_207361.5(FREM2):c.*5564_*5565delCA http://identifiers.org/clinvar/312152 ^@ NM_020751.2(COG6):c.*61T>C http://identifiers.org/clinvar/298626 ^@ NM_000102.3(CYP17A1):c.62G>A (p.Arg21Lys) http://identifiers.org/clinvar/312302 ^@ NM_000321.2(RB1):c.*413T>G http://identifiers.org/clinvar/304204 ^@ NM_022725.3(FANCF):c.350C>T (p.Pro117Leu) http://identifiers.org/clinvar/367581 ^@ NM_000136.2(FANCC):c.*1871G>A http://identifiers.org/clinvar/304354 ^@ NM_000280.4(PAX6):c.*183dupA http://identifiers.org/clinvar/312652 ^@ NM_001376.4(DYNC1H1):c.11460+4G>A http://identifiers.org/clinvar/312702 ^@ NM_022489.3(INF2):c.2517G>A (p.Glu839=) http://identifiers.org/clinvar/304404 ^@ NM_024426.4(WT1):c.*460C>A http://identifiers.org/clinvar/312902 ^@ NM_000257.3(MYH7):c.3148C>A (p.Arg1050=) http://identifiers.org/clinvar/304504 ^@ NM_000448.2(RAG1):c.2626G>A (p.Glu876Lys) http://identifiers.org/clinvar/313002 ^@ NM_004086.2(COCH):c.961-8C>T http://identifiers.org/clinvar/313102 ^@ NM_020529.2(NFKBIA):c.*263G>T http://identifiers.org/clinvar/299026 ^@ NM_000141.4(FGFR2):c.-622G>A http://identifiers.org/clinvar/298676 ^@ NM_000494.3(COL17A1):c.*363delT http://identifiers.org/clinvar/299076 ^@ NM_001609.3(ACADSB):c.639C>T (p.His213=) http://identifiers.org/clinvar/313202 ^@ NM_020937.3(FANCM):c.1880G>C (p.Arg627Pro) http://identifiers.org/clinvar/304654 ^@ NM_021926.3(ALX4):c.*1470C>T http://identifiers.org/clinvar/298876 ^@ NM_007373.3(SHOC2):c.*1062dupG http://identifiers.org/clinvar/298926 ^@ NM_004132.4(HABP2):c.*365A>G http://identifiers.org/clinvar/299126 ^@ NM_001609.3(ACADSB):c.*2113G>A http://identifiers.org/clinvar/299176 ^@ NM_000274.3(OAT):c.-30+11G>A http://identifiers.org/clinvar/299376 ^@ NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) http://identifiers.org/clinvar/314841 ^@ NM_018319.3(TDP1):c.1799C>T (p.Thr600Met) http://identifiers.org/clinvar/299726 ^@ NM_014915.2(ANKRD26):c.4879C>T (p.Pro1627Ser) http://identifiers.org/clinvar/314991 ^@ NM_004239.4(TRIP11):c.-333G>A http://identifiers.org/clinvar/305945 ^@ NM_001360.2(DHCR7):c.*417C>T http://identifiers.org/clinvar/315091 ^@ NM_177438.2(DICER1):c.*754G>A http://identifiers.org/clinvar/299776 ^@ NM_032844.4(MASTL):c.-345T>C http://identifiers.org/clinvar/315291 ^@ NM_139057.3(ADAMTS17):c.1431G>T (p.Gln477His) http://identifiers.org/clinvar/315391 ^@ NM_144599.4(NIPA1):c.*1925_*1929delAAAAT http://identifiers.org/clinvar/306158 ^@ NM_000260.3(MYO7A):c.288G>T (p.Thr96=) http://identifiers.org/clinvar/315341 ^@ NM_144599.4(NIPA1):c.*4933C>T http://identifiers.org/clinvar/306208 ^@ NM_000260.3(MYO7A):c.*363A>C http://identifiers.org/clinvar/315491 ^@ NM_002420.5(TRPM1):c.4386G>A (p.Thr1462=) http://identifiers.org/clinvar/306359 ^@ NM_012193.3(FZD4):c.*3574C>T http://identifiers.org/clinvar/306559 ^@ NM_030962.3(SBF2):c.*1144A>G http://identifiers.org/clinvar/315841 ^@ NM_144508.4(KNL1):c.75+6A>G http://identifiers.org/clinvar/311063 ^@ NM_001845.5(COL4A1):c.1385A>G (p.Gln462Arg) http://identifiers.org/clinvar/315191 ^@ NM_139057.3(ADAMTS17):c.*1244C>G http://identifiers.org/clinvar/317881 ^@ NM_032520.4(GNPTG):c.255G>A (p.Pro85=) http://identifiers.org/clinvar/311263 ^@ NM_000131.4(F7):c.*1500_*1503delTCAC http://identifiers.org/clinvar/311313 ^@ NM_021954.3(GJA3):c.*904G>T http://identifiers.org/clinvar/311363 ^@ NM_004004.5(GJB2):c.*786G>A http://identifiers.org/clinvar/329853 ^@ NM_017636.3(TRPM4):c.1050+13_1050+16dupGGGC http://identifiers.org/clinvar/329903 ^@ NM_024729.3(MYH14):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/329953 ^@ NM_024729.3(MYH14):c.*64G>A http://identifiers.org/clinvar/318533 ^@ NM_001083614.1(EARS2):c.*458C>T http://identifiers.org/clinvar/311952 ^@ NM_207361.5(FREM2):c.1941C>T (p.Asp647=) http://identifiers.org/clinvar/330503 ^@ NM_020533.2(MCOLN1):c.1359+13C>T http://identifiers.org/clinvar/330553 ^@ NM_006949.3(STXBP2):c.1027-10C>T http://identifiers.org/clinvar/312252 ^@ NM_003850.2(SUCLA2):c.*714dupG http://identifiers.org/clinvar/312502 ^@ NM_052910.2(SLITRK1):c.1094G>A (p.Ser365Asn) http://identifiers.org/clinvar/319422 ^@ NM_022162.2(NOD2):c.-14C>T http://identifiers.org/clinvar/311113 ^@ NM_001846.3(COL4A2):c.888A>G (p.Gly296=) http://identifiers.org/clinvar/319673 ^@ NM_015272.4(RPGRIP1L):c.-62C>T http://identifiers.org/clinvar/320023 ^@ NM_001297.4(CNGB1):c.*1429T>C http://identifiers.org/clinvar/312952 ^@ NM_001099274.1(TINF2):c.682C>T (p.His228Tyr) http://identifiers.org/clinvar/338790 ^@ NM_000782.4(CYP24A1):c.*1095C>G http://identifiers.org/clinvar/320323 ^@ NM_001605.2(AARS):c.*74A>T http://identifiers.org/clinvar/338840 ^@ NM_000782.4(CYP24A1):c.-17C>T http://identifiers.org/clinvar/338890 ^@ NM_002591.3(PCK1):c.1207A>G (p.Asn403Asp) http://identifiers.org/clinvar/339140 ^@ NM_207034.2(EDN3):c.*171G>A http://identifiers.org/clinvar/313352 ^@ NM_001202.5(BMP4):c.288A>G (p.Glu96=) http://identifiers.org/clinvar/320673 ^@ NM_022041.3(GAN):c.*381G>A http://identifiers.org/clinvar/312052 ^@ NM_207361.5(FREM2):c.*1428A>G http://identifiers.org/clinvar/339490 ^@ NM_012469.3(PRPF6):c.2779G>A (p.Gly927Arg) http://identifiers.org/clinvar/339640 ^@ NM_000484.3(APP):c.1224+12T>C http://identifiers.org/clinvar/339690 ^@ NM_000628.4(IL10RB):c.-72C>A http://identifiers.org/clinvar/312452 ^@ NM_000115.4(EDNRB):c.*1860T>G http://identifiers.org/clinvar/312552 ^@ NM_005708.4(GPC6):c.1496G>A (p.Ser499Asn) http://identifiers.org/clinvar/328314 ^@ NM_006563.4(KLF1):c.629C>G (p.Pro210Arg) http://identifiers.org/clinvar/328364 ^@ NM_000435.2(NOTCH3):c.*544C>T http://identifiers.org/clinvar/367731 ^@ NM_080632.2(UPF3B):c.1007+4A>T http://identifiers.org/clinvar/328614 ^@ NM_000095.2(COMP):c.1668+13T>A http://identifiers.org/clinvar/368081 ^@ NM_000054.4(AVPR2):c.*136T>G http://identifiers.org/clinvar/328914 ^@ NM_001083961.1(WDR62):c.1642+9G>A http://identifiers.org/clinvar/368231 ^@ NM_004006.2(DMD):c.*237T>C http://identifiers.org/clinvar/329753 ^@ NM_000554.5(CRX):c.*2106C>T http://identifiers.org/clinvar/328064 ^@ NM_000527.4(LDLR):c.*504G>A http://identifiers.org/clinvar/330003 ^@ NM_144687.3(NLRP12):c.3003C>T (p.Thr1001=) http://identifiers.org/clinvar/330303 ^@ NM_000064.3(C3):c.2450T>A (p.Val817Glu) http://identifiers.org/clinvar/328464 ^@ NM_000215.3(JAK3):c.*1778A>G http://identifiers.org/clinvar/330453 ^@ NM_000208.3(INSR):c.2643C>T (p.Ile881=) http://identifiers.org/clinvar/328564 ^@ NM_000453.2(SLC5A5):c.*575G>A http://identifiers.org/clinvar/328714 ^@ NM_001031726.3(C19orf12):c.*881G>A http://identifiers.org/clinvar/328764 ^@ NM_014270.4(SLC7A9):c.324C>T (p.Pro108=) http://identifiers.org/clinvar/337800 ^@ NM_006363.4(SEC23B):c.*292T>G http://identifiers.org/clinvar/338689 ^@ NM_006420.2(ARFGEF2):c.1497C>T (p.Val499=) http://identifiers.org/clinvar/338990 ^@ NM_004738.4(VAPB):c.*4271A>G http://identifiers.org/clinvar/339040 ^@ NM_001001433.2(STX16):c.-350C>A http://identifiers.org/clinvar/339090 ^@ NM_001001433.2(STX16):c.*2060T>C http://identifiers.org/clinvar/339190 ^@ NM_017671.4(FERMT1):c.*960G>A http://identifiers.org/clinvar/339290 ^@ NM_001853.3(COL9A3):c.1369-3C>T http://identifiers.org/clinvar/339340 ^@ NM_172107.3(KCNQ2):c.-88G>T http://identifiers.org/clinvar/330203 ^@ NM_000363.4(TNNI3):c.-133G>T http://identifiers.org/clinvar/339440 ^@ NM_025219.2(DNAJC5):c.*4070C>T http://identifiers.org/clinvar/330353 ^@ NM_000208.3(INSR):c.*4270G>A http://identifiers.org/clinvar/339590 ^@ NM_000933.3(PLCB4):c.3083T>C (p.Ile1028Thr) http://identifiers.org/clinvar/330403 ^@ NM_000208.3(INSR):c.*1525G>A http://identifiers.org/clinvar/339790 ^@ NM_000219.5(KCNE1):c.-577C>T http://identifiers.org/clinvar/339840 ^@ NM_001754.4(RUNX1):c.*1938C>T http://identifiers.org/clinvar/328164 ^@ NM_002743.3(PRKCSH):c.-168G>A http://identifiers.org/clinvar/337750 ^@ NM_000214.2(JAG1):c.2344+15C>G http://identifiers.org/clinvar/339940 ^@ NM_000411.6(HLCS):c.*1581T>C http://identifiers.org/clinvar/337850 ^@ NM_000361.2(THBD):c.*2129C>A http://identifiers.org/clinvar/337900 ^@ NM_198994.2(TGM6):c.-2A>G http://identifiers.org/clinvar/338739 ^@ NM_006420.2(ARFGEF2):c.*2609C>T http://identifiers.org/clinvar/340930 ^@ NM_016327.2(UPB1):c.296G>A (p.Arg99His) http://identifiers.org/clinvar/341330 ^@ NM_000362.4(TIMP3):c.-898T>C http://identifiers.org/clinvar/339540 ^@ NM_015192.3(PLCB1):c.*1707A>G http://identifiers.org/clinvar/339740 ^@ NM_000219.5(KCNE1):c.*1815A>G http://identifiers.org/clinvar/341930 ^@ NM_025225.2(PNPLA3):c.343G>T (p.Gly115Cys) http://identifiers.org/clinvar/385782 ^@ NM_000077.4(CDKN2A):c.-19506A>T http://identifiers.org/clinvar/379294 ^@ NM_000238.3(KCNH2):c.2398+4T>C http://identifiers.org/clinvar/388431 ^@ NM_020822.2(KCNT1):c.3195C>T (p.Asn1065=) http://identifiers.org/clinvar/390720 ^@ NM_017617.4(NOTCH1):c.5019-6G>A http://identifiers.org/clinvar/381737 ^@ NM_001001412.3(CALHM1):c.461G>A (p.Arg154His) http://identifiers.org/clinvar/378994 ^@ NM_000051.3(ATM):c.8419-17A>G http://identifiers.org/clinvar/391320 ^@ NM_032634.3(PIGO):c.2889G>C (p.Leu963=) http://identifiers.org/clinvar/383742 ^@ NM_001080512.2(BICC1):c.994G>A (p.Val332Ile) http://identifiers.org/clinvar/388831 ^@ NM_020987.4(ANK3):c.8674G>A (p.Asp2892Asn) http://identifiers.org/clinvar/391820 ^@ NM_000136.2(FANCC):c.-66C>T http://identifiers.org/clinvar/381337 ^@ NM_000136.2(FANCC):c.-78-18T>G http://identifiers.org/clinvar/385532 ^@ NM_004329.2(BMPR1A):c.430+12G>A http://identifiers.org/clinvar/385382 ^@ NM_024531.4(SLC52A2):c.1001+17A>T http://identifiers.org/clinvar/378592 ^@ NM_024698.5(SLC25A22):c.412+9G>A http://identifiers.org/clinvar/379895 ^@ NM_015335.4(MED13L):c.43G>T (p.Glu15Ter) http://identifiers.org/clinvar/382038 ^@ NM_004373.3(COX6A1):c.-45A>G http://identifiers.org/clinvar/379945 ^@ NM_024740.2(ALG9):c.865G>A (p.Val289Ile) http://identifiers.org/clinvar/379744 ^@ NM_174934.3(SCN4B):c.73C>T (p.Leu25Phe) http://identifiers.org/clinvar/391120 ^@ NM_006231.3(POLE):c.2205C>T (p.His735=) http://identifiers.org/clinvar/389081 ^@ NM_006231.3(POLE):c.318T>C (p.Ile106=) http://identifiers.org/clinvar/389281 ^@ NM_152722.4(HEPACAM):c.1197C>T (p.Gly399=) http://identifiers.org/clinvar/389181 ^@ NM_001278503.1(STT3A):c.271+8G>T http://identifiers.org/clinvar/381537 ^@ NM_006009.3(TUBA1A):c.79G>C (p.Glu27Gln) http://identifiers.org/clinvar/389531 ^@ NM_021625.4(TRPV4):c.1584+12G>A http://identifiers.org/clinvar/379845 ^@ NM_001845.5(COL4A1):c.2317G>A (p.Gly773Arg) http://identifiers.org/clinvar/385632 ^@ NM_012463.3(ATP6V0A2):c.1452C>T (p.Asn484=) http://identifiers.org/clinvar/391370 ^@ NM_024537.3(CARS2):c.-15G>C http://identifiers.org/clinvar/385832 ^@ NM_001376.4(DYNC1H1):c.4185+20C>T http://identifiers.org/clinvar/381487 ^@ NM_004572.3(PKP2):c.996G>A (p.Leu332=) http://identifiers.org/clinvar/384682 ^@ NM_144670.5(A2ML1):c.3569C>T (p.Ala1190Val) http://identifiers.org/clinvar/382389 ^@ NM_000137.2(FAH):c.315-14G>A http://identifiers.org/clinvar/390920 ^@ NM_000270.3(PNP):c.679G>A (p.Val227Ile) http://identifiers.org/clinvar/392170 ^@ NM_000814.5(GABRB3):c.335T>A (p.Val112Glu) http://identifiers.org/clinvar/389381 ^@ NM_020778.4(ALPK3):c.2973T>C (p.Thr991=) http://identifiers.org/clinvar/381888 ^@ NM_002693.2(POLG):c.3234C>T (p.Cys1078=) http://identifiers.org/clinvar/385682 ^@ NM_001271.3(CHD2):c.984G>A (p.Gln328=) http://identifiers.org/clinvar/379394 ^@ NM_032790.3(ORAI1):c.798T>C (p.Thr266=) http://identifiers.org/clinvar/391070 ^@ NM_006231.3(POLE):c.4296G>A (p.Pro1432=) http://identifiers.org/clinvar/47447 ^@ NM_001256850.1(TTN):c.80768A>T (p.Lys26923Ile) http://identifiers.org/clinvar/326 ^@ NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys) http://identifiers.org/clinvar/335 ^@ NM_000267.3(NF1):c.5845A>T (p.Arg1949Ter) http://identifiers.org/clinvar/431 ^@ NM_020312.3(COQ9):c.730C>T (p.Arg244Ter) http://identifiers.org/clinvar/522 ^@ NM_001999.3(FBN2):c.4346-2A>T http://identifiers.org/clinvar/672 ^@ PROC, 2-BP INS, 6139TT http://identifiers.org/clinvar/713 ^@ NM_000512.4(GALNS):c.935C>G (p.Thr312Ser) http://identifiers.org/clinvar/922 ^@ NM_014798.2(PLEKHM1):c.296+1G>A http://identifiers.org/clinvar/946 ^@ NM_000404.3(GLB1):c.1480-2A>G http://identifiers.org/clinvar/983 ^@ NM_024782.2(NHEJ1):c.532C>T (p.Arg178Ter) http://identifiers.org/clinvar/1004 ^@ NM_152778.2(MFSD8):c.362A>G (p.Tyr121Cys) http://identifiers.org/clinvar/1013 ^@ FGD4, 2-BP DEL, 1626AG http://identifiers.org/clinvar/1022 ^@ MIAT, HAPLOTYPE, TAAAAT http://identifiers.org/clinvar/1031 ^@ NM_015559.2(SETBP1):c.2612T>C (p.Ile871Thr) http://identifiers.org/clinvar/3113 ^@ NM_000218.2(KCNQ1):c.532G>C (p.Ala178Pro) http://identifiers.org/clinvar/3165 ^@ NM_000187.3(HGD):c.688C>T (p.Pro230Ser) http://identifiers.org/clinvar/3210 ^@ NM_001079802.1(FKTN):c.536G>C (p.Arg179Thr) http://identifiers.org/clinvar/3304 ^@ LIPH, EXONS 7-8 DEL http://identifiers.org/clinvar/10175 ^@ NM_000132.3(F8):c.491G>T (p.Gly164Val) http://identifiers.org/clinvar/10265 ^@ F8, GLU161TER http://identifiers.org/clinvar/10355 ^@ NM_001161529.1(CSF2RA):c.586G>A (p.Gly196Arg) http://identifiers.org/clinvar/10404 ^@ NM_000402.4(G6PD):c.482G>T (p.Gly161Val) http://identifiers.org/clinvar/10453 ^@ COL4A5, EX5-10DEL http://identifiers.org/clinvar/10546 ^@ NM_006915.2(RP2):c.353G>A (p.Arg118His) http://identifiers.org/clinvar/10591 ^@ NM_000133.3(F9):c.677G>A (p.Arg226Gln) http://identifiers.org/clinvar/10636 ^@ F9, EX51INS http://identifiers.org/clinvar/10682 ^@ NM_000266.3(NDP):c.131A>G (p.Tyr44Cys) http://identifiers.org/clinvar/10727 ^@ NM_000169.2(GLA):c.466G>A (p.Ala156Thr) http://identifiers.org/clinvar/10772 ^@ GLA, 2-BP DEL, 1277AA http://identifiers.org/clinvar/10817 ^@ NM_000444.5(PHEX):c.254G>A (p.Cys85Tyr) http://identifiers.org/clinvar/10862 ^@ NM_001111125.2(IQSEC2):c.2587C>T (p.Arg863Trp) http://identifiers.org/clinvar/10908 ^@ NM_002351.4(SH2D1A):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/10953 ^@ NM_000475.4(NR0B1):c.704G>A (p.Trp235Ter) http://identifiers.org/clinvar/11417 ^@ FOXP3, 543C-T http://identifiers.org/clinvar/11467 ^@ NM_003639.4(IKBKG):c.944A>C (p.Glu315Ala) http://identifiers.org/clinvar/36665 ^@ NM_000475.4(NR0B1):c.1141C>T (p.Leu381Phe) http://identifiers.org/clinvar/36717 ^@ NM_000536.3(RAG2):c.1247G>T (p.Trp416Leu) http://identifiers.org/clinvar/36770 ^@ NM_003000.2(SDHB):c.424-19_424-14dupTTCTTC http://identifiers.org/clinvar/36820 ^@ NM_000545.6(HNF1A):c.375_377dupGCA (p.Gln125_His126insGln) http://identifiers.org/clinvar/36870 ^@ NM_024334.2(TMEM43):c.1150C>G (p.Leu384Val) http://identifiers.org/clinvar/36922 ^@ NM_001382.3(DPAGT1):c.791T>G (p.Val264Gly) http://identifiers.org/clinvar/37031 ^@ NM_001007026.1(ATN1):c.1462_1464CAG(49_55) (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/37097 ^@ NM_014967.4(FAN1):c.2245C>T (p.Arg749Ter) http://identifiers.org/clinvar/37219 ^@ NM_178497.3(C4orf26):c.318G>A http://identifiers.org/clinvar/37311 ^@ TSPEAR, 1726G-T and 1-BP DEL, 1728C http://identifiers.org/clinvar/37395 ^@ NM_007294.3(BRCA1):c.1175_1216del42 (p.Leu392_Asn406delinsHis) http://identifiers.org/clinvar/37447 ^@ NM_007294.3(BRCA1):c.2123C>A (p.Ser708Tyr) http://identifiers.org/clinvar/37501 ^@ NM_007294.3(BRCA1):c.302-3C>G http://identifiers.org/clinvar/37558 ^@ NM_007294.3(BRCA1):c.3991C>T (p.Gln1331Ter) http://identifiers.org/clinvar/37609 ^@ NM_007294.3(BRCA1):c.4749_4750delAG (p.Arg1583Serfs) http://identifiers.org/clinvar/37664 ^@ NM_007294.3(BRCA1):c.53T>C (p.Met18Thr) http://identifiers.org/clinvar/37719 ^@ NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) http://identifiers.org/clinvar/37770 ^@ NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) http://identifiers.org/clinvar/37823 ^@ NM_000059.3(BRCA2):c.316+1G>C http://identifiers.org/clinvar/37875 ^@ NM_000059.3(BRCA2):c.4058_4062delAAACG (p.Glu1353Glyfs) http://identifiers.org/clinvar/37928 ^@ NM_000059.3(BRCA2):c.4850G>A (p.Ser1617Asn) http://identifiers.org/clinvar/37982 ^@ NM_000059.3(BRCA2):c.5632A>T (p.Asn1878Tyr) http://identifiers.org/clinvar/38034 ^@ NM_000059.3(BRCA2):c.6313A>G (p.Ile2105Val) http://identifiers.org/clinvar/38087 ^@ NM_000059.3(BRCA2):c.7185_7190delCTTGATinsAG (p.His2395Glnfs) http://identifiers.org/clinvar/38137 ^@ NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) http://identifiers.org/clinvar/38187 ^@ NM_000059.3(BRCA2):c.8817G>C (p.Lys2939Asn) http://identifiers.org/clinvar/51137 ^@ NM_000059.3(BRCA2):c.1514delT (p.Ile505Asnfs) http://identifiers.org/clinvar/51740 ^@ NM_000059.3(BRCA2):c.491T>A (p.Leu164Ter) http://identifiers.org/clinvar/51792 ^@ NM_000059.3(BRCA2):c.5164_5168dupAGTAC (p.Ile1724Valfs) http://identifiers.org/clinvar/51843 ^@ NM_000059.3(BRCA2):c.5344_5345delCA (p.Gln1782Lysfs) http://identifiers.org/clinvar/51896 ^@ NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) http://identifiers.org/clinvar/51948 ^@ NM_000059.3(BRCA2):c.5836T>C (p.Ser1946Pro) http://identifiers.org/clinvar/52000 ^@ NM_000059.3(BRCA2):c.6070C>T (p.Gln2024Ter) http://identifiers.org/clinvar/52051 ^@ NM_000059.3(BRCA2):c.6304G>T (p.Val2102Leu) http://identifiers.org/clinvar/52105 ^@ NM_000059.3(BRCA2):c.6449_6450delAA (p.Lys2150Serfs) http://identifiers.org/clinvar/52156 ^@ NM_000059.3(BRCA2):c.6683T>C (p.Val2228Ala) http://identifiers.org/clinvar/52206 ^@ NM_000059.3(BRCA2):c.6841+7_6841+8delGT http://identifiers.org/clinvar/52257 ^@ NM_000059.3(BRCA2):c.7051G>C (p.Ala2351Pro) http://identifiers.org/clinvar/52308 ^@ NM_000059.3(BRCA2):c.7313A>G (p.Asp2438Gly) http://identifiers.org/clinvar/52358 ^@ NM_000059.3(BRCA2):c.7583G>A (p.Gly2528Glu) http://identifiers.org/clinvar/52409 ^@ NM_000059.3(BRCA2):c.7795_7797delGAA (p.Glu2599del) http://identifiers.org/clinvar/52459 ^@ NM_000059.3(BRCA2):c.7980T>G (p.Tyr2660Ter) http://identifiers.org/clinvar/52509 ^@ NM_000059.3(BRCA2):c.8134G>A (p.Asp2712Asn) http://identifiers.org/clinvar/52560 ^@ NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) http://identifiers.org/clinvar/52610 ^@ NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) http://identifiers.org/clinvar/52662 ^@ NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) http://identifiers.org/clinvar/52712 ^@ NM_000059.3(BRCA2):c.8954-3C>G http://identifiers.org/clinvar/52763 ^@ NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) http://identifiers.org/clinvar/52814 ^@ NM_000059.3(BRCA2):c.9317G>A (p.Trp3106Ter) http://identifiers.org/clinvar/52865 ^@ NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe) http://identifiers.org/clinvar/52915 ^@ NM_000059.3(BRCA2):c.9917C>T (p.Thr3306Ile) http://identifiers.org/clinvar/52965 ^@ NM_000218.2(KCNQ1):c.1149dupT (p.Ala384Cysfs) http://identifiers.org/clinvar/53015 ^@ NM_000218.2(KCNQ1):c.1768G>A (p.Ala590Thr) http://identifiers.org/clinvar/53065 ^@ NM_000218.2(KCNQ1):c.556G>C (p.Gly186Arg) http://identifiers.org/clinvar/53116 ^@ NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) http://identifiers.org/clinvar/53167 ^@ NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro) http://identifiers.org/clinvar/53219 ^@ NM_000492.3(CFTR):c.1220A>T (p.Glu407Val) http://identifiers.org/clinvar/53577 ^@ NM_000492.3(CFTR):c.2846A>G (p.His949Arg) http://identifiers.org/clinvar/53628 ^@ NM_000492.3(CFTR):c.3021delT (p.Val1008Serfs) http://identifiers.org/clinvar/54579 ^@ NM_007294.3(BRCA1):c.2477delC (p.Thr826Lysfs) http://identifiers.org/clinvar/54629 ^@ NM_007294.3(BRCA1):c.2657_2658delCT (p.Ser886Cysfs) http://identifiers.org/clinvar/54679 ^@ NM_007294.3(BRCA1):c.2782G>A (p.Gly928Ser) http://identifiers.org/clinvar/54729 ^@ NM_007294.3(BRCA1):c.2952delT (p.Ile986Serfs) http://identifiers.org/clinvar/54779 ^@ NM_007294.3(BRCA1):c.3145delT (p.Ser1049Profs) http://identifiers.org/clinvar/54829 ^@ NM_007294.3(BRCA1):c.32_33insC (p.Gln12Thrfs) http://identifiers.org/clinvar/54879 ^@ NM_007294.3(BRCA1):c.3426A>G (p.Ala1142=) http://identifiers.org/clinvar/54929 ^@ NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) http://identifiers.org/clinvar/54981 ^@ NM_007294.3(BRCA1):c.3722_3740del19 (p.Ser1241Leufs) http://identifiers.org/clinvar/55032 ^@ NM_007294.3(BRCA1):c.3869_3870delAA (p.Lys1290Metfs) http://identifiers.org/clinvar/55083 ^@ NM_007294.3(BRCA1):c.4043delG (p.Gly1348Glufs) http://identifiers.org/clinvar/55134 ^@ NM_007294.3(BRCA1):c.4186-1G>A http://identifiers.org/clinvar/55184 ^@ NM_007294.3(BRCA1):c.4373_4389del17 (p.Gln1458Profs) http://identifiers.org/clinvar/55235 ^@ NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) http://identifiers.org/clinvar/55285 ^@ NM_007294.3(BRCA1):c.4777A>G (p.Ile1593Val) http://identifiers.org/clinvar/55336 ^@ NM_007294.3:c.4966_4984delCCTGACCCCAGAAGAAT http://identifiers.org/clinvar/55386 ^@ NM_007294.3(BRCA1):c.5078_5080delCTG (p.Ala1693del) http://identifiers.org/clinvar/55436 ^@ NM_007294.3(BRCA1):c.5155delG (p.Val1719Terfs) http://identifiers.org/clinvar/55486 ^@ NM_007294.3(BRCA1):c.5257dupA (p.Arg1753Lysfs) http://identifiers.org/clinvar/55539 ^@ NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly) http://identifiers.org/clinvar/55589 ^@ NM_007294.3(BRCA1):c.5468-10C>A http://identifiers.org/clinvar/55639 ^@ NM_007294.3(BRCA1):c.567T>C (p.Asp189=) http://identifiers.org/clinvar/55692 ^@ NM_007294.3(BRCA1):c.75_80dupCATCTG (p.Cys27_Leu28insIleCys) http://identifiers.org/clinvar/55743 ^@ NM_007294.3(BRCA1):c.891G>A (p.Met297Ile) http://identifiers.org/clinvar/55811 ^@ NM_001142864.3(PIEZO1):c.6380C>T (p.Thr2127Met) http://identifiers.org/clinvar/55874 ^@ NM_000475.4(NR0B1):c.1274G>T (p.Arg425Ile) http://identifiers.org/clinvar/56763 ^@ NM_153704.5(TMEM67):c.1065+1delG http://identifiers.org/clinvar/56846 ^@ NM_001199107.1(TBC1D24):c.686T>C (p.Phe229Ser) http://identifiers.org/clinvar/57023 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x3 http://identifiers.org/clinvar/57077 ^@ GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1 http://identifiers.org/clinvar/57132 ^@ GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 http://identifiers.org/clinvar/57289 ^@ GRCh38/hg38 Xp22.11-21.3(chrX:24715187-25004423)x3 http://identifiers.org/clinvar/57342 ^@ GRCh38/hg38 1q43-44(chr1:243264206-243561717)x1 http://identifiers.org/clinvar/57394 ^@ GRCh38/hg38 6q13(chr6:73479920-74931870)x1 http://identifiers.org/clinvar/101461 ^@ NM_000090.3(COL3A1):c.3499G>T (p.Gly1167Cys) http://identifiers.org/clinvar/101517 ^@ NM_198173.2(GRHL3):c.1563_1566delGGAG (p.Glu522Leufs) http://identifiers.org/clinvar/102474 ^@ NM_000277.1(PAH):c.1024G>C (p.Ala342Pro) http://identifiers.org/clinvar/102529 ^@ NM_000277.1(PAH):c.1117G>A (p.Ala373Thr) http://identifiers.org/clinvar/102582 ^@ NM_000277.1(PAH):c.1262T>C (p.Ile421Thr) http://identifiers.org/clinvar/102636 ^@ NM_000277.1(PAH):c.232G>A (p.Glu78Lys) http://identifiers.org/clinvar/102689 ^@ NM_000277.1(PAH):c.46T>C (p.Ser16Pro) http://identifiers.org/clinvar/102739 ^@ NM_000277.1(PAH):c.563delG (p.Gly188Alafs) http://identifiers.org/clinvar/102790 ^@ NM_000277.1(PAH):c.699C>A (p.Phe233Leu) http://identifiers.org/clinvar/102840 ^@ NM_000277.1(PAH):c.801G>C (p.Gln267His) http://identifiers.org/clinvar/102892 ^@ NM_000277.1(PAH):c.912G>A (p.Gln304=) http://identifiers.org/clinvar/102950 ^@ NM_138329.2(NLRP6):c.-166G>A http://identifiers.org/clinvar/103000 ^@ NM_000246.3(CIITA):c.2658-149G>T http://identifiers.org/clinvar/103050 ^@ NM_001174081.2(NLRP2):c.1386G>A (p.Thr462=) http://identifiers.org/clinvar/103100 ^@ NM_006092.2(NOD1):c.2285+372T>A http://identifiers.org/clinvar/103150 ^@ NM_024618.3(NLRX1):c.966C>T (p.Phe322=) http://identifiers.org/clinvar/103200 ^@ NM_032206.4(NLRC5):c.4835+61C>A http://identifiers.org/clinvar/103250 ^@ NM_138329.2(NLRP6):c.30-85G>A http://identifiers.org/clinvar/103300 ^@ NM_153447.4(NLRP5):c.623-87A>G http://identifiers.org/clinvar/103350 ^@ NM_176822.3(NLRP14):c.3049A>T (p.Ile1017Leu) http://identifiers.org/clinvar/111224 ^@ NM_000619.2(IFNG):c.366+139T>C http://identifiers.org/clinvar/111274 ^@ NM_006068.4(TLR6):c.847A>G (p.Ile283Val) http://identifiers.org/clinvar/120236 ^@ NM_017637.5(BNC2):c.2478A>G (p.Leu826=) http://identifiers.org/clinvar/120286 ^@ NM_000277.1(PAH):c.796A>C (p.Thr266Pro) http://identifiers.org/clinvar/125443 ^@ NM_001080442.2(SLC38A8):c.707T>A (p.Val236Asp) http://identifiers.org/clinvar/125508 ^@ NM_007294.3(BRCA1):c.1700dupA (p.Asn567Lysfs) http://identifiers.org/clinvar/125589 ^@ NM_007294.3(BRCA1):c.171delG (p.Pro58Leufs) http://identifiers.org/clinvar/126395 ^@ NM_001111.4(ADAR):c.577C>G (p.Pro193Ala) http://identifiers.org/clinvar/126463 ^@ NM_021625.4(TRPV4):c.1219A>G (p.Lys407Glu) http://identifiers.org/clinvar/126525 ^@ NM_173086.4(KRT6C):c.516_518delCAA (p.Asn172del) http://identifiers.org/clinvar/126600 ^@ NM_024675.3(PALB2):c.13C>T (p.Pro5Ser) http://identifiers.org/clinvar/126652 ^@ NM_024675.3(PALB2):c.23C>T (p.Pro8Leu) http://identifiers.org/clinvar/126702 ^@ NM_024675.3(PALB2):c.2996+183delA http://identifiers.org/clinvar/126752 ^@ NM_024675.3(PALB2):c.49-173G>T http://identifiers.org/clinvar/126803 ^@ NM_000321.2(RB1):c.2453delG (p.Gly818Valfs) http://identifiers.org/clinvar/126856 ^@ NM_004996.3(ABCC1):c.1988+357G>T http://identifiers.org/clinvar/126913 ^@ NM_007194.3(CHEK2):c.1543-31delT http://identifiers.org/clinvar/126963 ^@ NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) http://identifiers.org/clinvar/127013 ^@ NM_002485.4(NBN):c.702+84G>C http://identifiers.org/clinvar/127063 ^@ NM_001983.3(ERCC1):c.322-123G>A http://identifiers.org/clinvar/159943 ^@ NM_006306.3(SMC1A):c.1698G>A (p.Glu566=) http://identifiers.org/clinvar/160365 ^@ NM_016929.4(CLIC5):c.96T>A (p.Cys32Ter) http://identifiers.org/clinvar/160818 ^@ GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 http://identifiers.org/clinvar/160869 ^@ GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 http://identifiers.org/clinvar/160922 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 http://identifiers.org/clinvar/160973 ^@ GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 http://identifiers.org/clinvar/161024 ^@ GRCh38/hg38 22q11.22(chr22:21981871-22202339)x3 http://identifiers.org/clinvar/161074 ^@ GRCh38/hg38 20p13(chr20:89939-1852477)x1 http://identifiers.org/clinvar/161124 ^@ NM_152296.4(ATP1A3):c.821T>A (p.Ile274Asn) http://identifiers.org/clinvar/161206 ^@ NM_000038.5(APC):c.2847G>T (p.Met949Ile) http://identifiers.org/clinvar/162043 ^@ NM_023067.3(FOXL2):c.142_173del32insGCGCT (p.Lys48_Ser58delinsAlaLeu) http://identifiers.org/clinvar/162100 ^@ NM_004984.2(KIF5A):c.694G>A (p.Asp232Asn) http://identifiers.org/clinvar/162163 ^@ NM_001850.4(COL8A1):c.-4+17674G>T http://identifiers.org/clinvar/162375 ^@ NM_001009944.2(PKD1):c.11554delC (p.Leu3852Trpfs) http://identifiers.org/clinvar/162455 ^@ NM_014305.3(TGDS):c.298G>T (p.Ala100Ser) http://identifiers.org/clinvar/162508 ^@ NM_000535.6(PMS2):c.1144+1G>A http://identifiers.org/clinvar/162588 ^@ NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) http://identifiers.org/clinvar/179233 ^@ NM_013296.4(GPSM2):c.-2C>T http://identifiers.org/clinvar/179533 ^@ NM_005572.3(LMNA):c.640-11A>C http://identifiers.org/clinvar/178933 ^@ NM_170707.3(LMNA):c.1748C>G (p.Ser583Trp) http://identifiers.org/clinvar/179783 ^@ NM_144573.3(NEXN):c.995_997delAAG (p.Glu332del) http://identifiers.org/clinvar/177823 ^@ NM_170707.3(LMNA):c.215G>T (p.Arg72Leu) http://identifiers.org/clinvar/177873 ^@ NM_000364.3(TNNT2):c.755C>T (p.Ala252Val) http://identifiers.org/clinvar/179683 ^@ NM_133378.4(TTN):c.79345G>A (p.Ala26449Thr) http://identifiers.org/clinvar/179183 ^@ NM_133378.4(TTN):c.76948G>A (p.Gly25650Ser) http://identifiers.org/clinvar/178983 ^@ NM_001267550.2(TTN):c.98959_98960delTCinsCT (p.Ser32987Leu) http://identifiers.org/clinvar/179583 ^@ NM_133378.4(TTN):c.42251C>T (p.Pro14084Leu) http://identifiers.org/clinvar/179883 ^@ NM_133378.4(TTN):c.14921T>G (p.Leu4974Arg) http://identifiers.org/clinvar/180033 ^@ NM_133378.4(TTN):c.2682T>C (p.Ala894=) http://identifiers.org/clinvar/163144 ^@ NM_001369.2(DNAH5):c.6444+11C>T http://identifiers.org/clinvar/162840 ^@ NM_181426.1(CCDC39):c.2301G>A (p.Leu767=) http://identifiers.org/clinvar/177672 ^@ NM_004333.4(BRAF):c.1785T>G (p.Phe595Leu) http://identifiers.org/clinvar/178883 ^@ NM_016203.3(PRKAG2):c.472G>A (p.Gly158Ser) http://identifiers.org/clinvar/177773 ^@ NM_005228.4(EGFR):c.2252C>T (p.Thr751Ile) http://identifiers.org/clinvar/163094 ^@ NM_001277115.1(DNAH11):c.576A>G (p.Ile192Met) http://identifiers.org/clinvar/199007 ^@ NM_000288.3(PEX7):c.886C>T (p.Leu296Phe) http://identifiers.org/clinvar/199057 ^@ NM_001083961.1(WDR62):c.1170C>T (p.Asp390=) http://identifiers.org/clinvar/199111 ^@ NM_170707.3(LMNA):c.1551G>A (p.Gln517=) http://identifiers.org/clinvar/199162 ^@ NM_021957.3(GYS2):c.1229+11G>A http://identifiers.org/clinvar/199217 ^@ NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) http://identifiers.org/clinvar/199652 ^@ NM_000083.2(CLCN1):c.2926C>T (p.Arg976Ter) http://identifiers.org/clinvar/199718 ^@ NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) http://identifiers.org/clinvar/199883 ^@ NM_004415.3(DSP):c.4175G>A (p.Arg1392Gln) http://identifiers.org/clinvar/199939 ^@ NM_004415.3(DSP):c.6319G>C (p.Val2107Leu) http://identifiers.org/clinvar/200664 ^@ NM_000238.3(KCNH2):c.2732delG (p.Gly911Alafs) http://identifiers.org/clinvar/200239 ^@ NM_000238.3(KCNH2):c.2398+153A>G http://identifiers.org/clinvar/200370 ^@ NM_000238.3(KCNH2):c.1704G>A (p.Trp568Ter) http://identifiers.org/clinvar/200544 ^@ NM_000238.3(KCNH2):c.119C>T (p.Ala40Val) http://identifiers.org/clinvar/200107 ^@ NM_000138.4(FBN1):c.7132T>C (p.Cys2378Arg) http://identifiers.org/clinvar/200167 ^@ NM_000138.4(FBN1):c.6163+2dupT http://identifiers.org/clinvar/200054 ^@ NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr) http://identifiers.org/clinvar/199999 ^@ NM_000138.4(FBN1):c.2627G>A (p.Cys876Tyr) http://identifiers.org/clinvar/199773 ^@ NM_024422.4(DSC2):c.2318G>C (p.Gly773Ala) http://identifiers.org/clinvar/199828 ^@ NM_001943.4(DSG2):c.562G>A (p.Glu188Lys) http://identifiers.org/clinvar/201925 ^@ NM_144573.3(NEXN):c.1435C>T (p.Leu479Phe) http://identifiers.org/clinvar/201705 ^@ NM_001927.3(DES):c.976C>T (p.His326Tyr) http://identifiers.org/clinvar/201869 ^@ NM_032578.3(MYPN):c.1246-19G>A http://identifiers.org/clinvar/201816 ^@ NM_002230.2(JUP):c.704T>A (p.Leu235His) http://identifiers.org/clinvar/201761 ^@ NM_001390.4(DTNA):c.1094+1726T>C http://identifiers.org/clinvar/203101 ^@ NM_001256850.1(TTN):c.100898C>T (p.Thr33633Ile) http://identifiers.org/clinvar/203051 ^@ NM_001256850.1(TTN):c.95023G>A (p.Ala31675Thr) http://identifiers.org/clinvar/203001 ^@ NM_001256850.1(TTN):c.89281G>A (p.Ala29761Thr) http://identifiers.org/clinvar/202492 ^@ NM_001256850.1(TTN):c.86952delG (p.Pro28985Glnfs) http://identifiers.org/clinvar/202951 ^@ NM_001256850.1(TTN):c.83699T>C (p.Ile27900Thr) http://identifiers.org/clinvar/202901 ^@ NM_001256850.1(TTN):c.75797C>A (p.Pro25266Gln) http://identifiers.org/clinvar/202330 ^@ NM_001256850.1(TTN):c.72731T>C (p.Ile24244Thr) http://identifiers.org/clinvar/202280 ^@ NM_001256850.1(TTN):c.72120T>C (p.Tyr24040=) http://identifiers.org/clinvar/202851 ^@ NM_001256850.1(TTN):c.68900C>T (p.Ala22967Val) http://identifiers.org/clinvar/202801 ^@ NM_001256850.1(TTN):c.61666C>T (p.Arg20556Trp) http://identifiers.org/clinvar/233872 ^@ NM_005732.3(RAD50):c.2537T>C (p.Ile846Thr) http://identifiers.org/clinvar/233569 ^@ NM_005732.3(RAD50):c.2891A>G (p.Tyr964Cys) http://identifiers.org/clinvar/233771 ^@ NM_005732.3(RAD50):c.3877A>G (p.Ile1293Val) http://identifiers.org/clinvar/233972 ^@ NM_002485.4(NBN):c.969T>C (p.Cys323=) http://identifiers.org/clinvar/231929 ^@ NM_000314.6(PTEN):c.831A>G (p.Thr277=) http://identifiers.org/clinvar/231729 ^@ NM_000051.3(ATM):c.104G>A (p.Arg35Gln) http://identifiers.org/clinvar/234172 ^@ NM_000051.3(ATM):c.901+1G>T http://identifiers.org/clinvar/232229 ^@ NM_000051.3(ATM):c.1614A>G (p.Ala538=) http://identifiers.org/clinvar/232029 ^@ NM_000051.3(ATM):c.8524C>T (p.Pro2842Ser) http://identifiers.org/clinvar/233719 ^@ NM_000051.3(ATM):c.8943C>G (p.His2981Gln) http://identifiers.org/clinvar/232129 ^@ NM_005591.3(MRE11):c.1403A>T (p.Asp468Val) http://identifiers.org/clinvar/234072 ^@ NM_005591.3(MRE11):c.986C>A (p.Thr329Asn) http://identifiers.org/clinvar/233069 ^@ NM_005591.3(MRE11):c.98G>A (p.Gly33Glu) http://identifiers.org/clinvar/233419 ^@ NM_000059.3(BRCA2):c.544G>C (p.Glu182Gln) http://identifiers.org/clinvar/234222 ^@ NM_000059.3(BRCA2):c.6379A>C (p.Ser2127Arg) http://identifiers.org/clinvar/233019 ^@ NM_000059.3(BRCA2):c.7632C>T (p.Gly2544=) http://identifiers.org/clinvar/232919 ^@ NM_002382.4(MAX):c.320C>A (p.Ser107Ter) http://identifiers.org/clinvar/232079 ^@ NM_024675.3(PALB2):c.3210C>G (p.Leu1070=) http://identifiers.org/clinvar/231579 ^@ NM_024675.3(PALB2):c.2032C>T (p.Leu678=) http://identifiers.org/clinvar/233619 ^@ NM_024675.3(PALB2):c.1670T>C (p.Phe557Ser) http://identifiers.org/clinvar/234122 ^@ NM_004360.4(CDH1):c.558C>T (p.Gly186=) http://identifiers.org/clinvar/234022 ^@ NM_001042492.2(NF1):c.633A>G (p.Ala211=) http://identifiers.org/clinvar/232969 ^@ NM_001042492.2(NF1):c.1082G>C (p.Ser361Thr) http://identifiers.org/clinvar/233922 ^@ NM_001042492.2(NF1):c.1996T>G (p.Ser666Ala) http://identifiers.org/clinvar/233469 ^@ NM_001042492.2(NF1):c.4306G>A (p.Glu1436Lys) http://identifiers.org/clinvar/233269 ^@ NM_001042492.2(NF1):c.5483G>A (p.Arg1828Gln) http://identifiers.org/clinvar/232179 ^@ NM_007294.3(BRCA1):c.3166T>C (p.Ser1056Pro) http://identifiers.org/clinvar/231629 ^@ NM_007294.3(BRCA1):c.2967T>A (p.Phe989Leu) http://identifiers.org/clinvar/233821 ^@ NM_005359.5(SMAD4):c.798C>T (p.Thr266=) http://identifiers.org/clinvar/231979 ^@ NM_005359.5(SMAD4):c.1218G>A (p.Ala406=) http://identifiers.org/clinvar/233219 ^@ NM_007194.3(CHEK2):c.848C>A (p.Pro283His) http://identifiers.org/clinvar/235329 ^@ NM_012102.3(RERE):c.3146C>T (p.Pro1049Leu) http://identifiers.org/clinvar/235834 ^@ NM_052867.2(NALCN):c.1538C>A (p.Thr513Asn) http://identifiers.org/clinvar/235915 ^@ NM_001168272.1(ITPR1):c.4654C>T (p.Gln1552Ter) http://identifiers.org/clinvar/236118 ^@ NM_000350.2(ABCA4):c.4611G>A (p.Thr1537=) http://identifiers.org/clinvar/236168 ^@ NM_004621.5(TRPC6):c.1533A>G (p.Lys511=) http://identifiers.org/clinvar/236248 ^@ NM_000088.3(COL1A1):c.2775delT (p.Gly926Valfs) http://identifiers.org/clinvar/236307 ^@ NC_000015.8:g.28723577_30302218dup1578642 http://identifiers.org/clinvar/236357 ^@ NC_000007.12:g.100098527_100291144del192618 http://identifiers.org/clinvar/236407 ^@ NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) http://identifiers.org/clinvar/236458 ^@ NM_016247.3(IMPG2):c.3634G>T (p.Glu1212Ter) http://identifiers.org/clinvar/236508 ^@ NM_001297.4(CNGB1):c.2096A>G (p.Asp699Gly) http://identifiers.org/clinvar/241498 ^@ NM_024529.4(CDC73):c.840G>A (p.Leu280=) http://identifiers.org/clinvar/238204 ^@ NM_001001430.2(TNNT2):c.68-81G>A http://identifiers.org/clinvar/241298 ^@ NM_020435.3(GJC2):c.594C>T (p.His198=) http://identifiers.org/clinvar/238304 ^@ NM_001103.3(ACTN2):c.969C>T (p.Phe323=) http://identifiers.org/clinvar/237112 ^@ NM_000143.3(FH):c.267+1G>C http://identifiers.org/clinvar/238354 ^@ NM_001128425.1(MUTYH):c.793C>T (p.Leu265=) http://identifiers.org/clinvar/238604 ^@ NM_001165963.1(SCN1A):c.4582-3C>G http://identifiers.org/clinvar/238804 ^@ NM_001267550.2(TTN):c.56997T>C (p.Asp18999=) http://identifiers.org/clinvar/238754 ^@ NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) http://identifiers.org/clinvar/238704 ^@ NM_001267550.2(TTN):c.11415A>G (p.Pro3805=) http://identifiers.org/clinvar/238854 ^@ NM_001267550.2(TTN):c.8565C>T (p.Asn2855=) http://identifiers.org/clinvar/240948 ^@ NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) http://identifiers.org/clinvar/237364 ^@ NM_000251.2(MSH2):c.12G>A (p.Gln4=) http://identifiers.org/clinvar/237414 ^@ NM_000251.2(MSH2):c.915A>C (p.Ala305=) http://identifiers.org/clinvar/237214 ^@ NM_000179.2(MSH6):c.927T>C (p.Ser309=) http://identifiers.org/clinvar/237163 ^@ NM_000179.2(MSH6):c.2781T>G (p.Ile927Met) http://identifiers.org/clinvar/241248 ^@ NM_018062.3(FANCL):c.1067T>G (p.Phe356Cys) http://identifiers.org/clinvar/240998 ^@ NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) http://identifiers.org/clinvar/238104 ^@ NM_000551.3(VHL):c.258C>G (p.Pro86=) http://identifiers.org/clinvar/241998 ^@ NM_153240.4(NPHP3):c.449C>T (p.Ala150Val) http://identifiers.org/clinvar/237314 ^@ NM_000249.3(MLH1):c.1456dupT (p.Ser486Phefs) http://identifiers.org/clinvar/241748 ^@ NM_033337.2(CAV3):c.54C>T (p.His18=) http://identifiers.org/clinvar/237264 ^@ NM_000222.2(KIT):c.2502G>A (p.Lys834=) http://identifiers.org/clinvar/236658 ^@ NM_000038.5(APC):c.849A>G (p.Arg283=) http://identifiers.org/clinvar/236558 ^@ NM_000038.5(APC):c.1300G>A (p.Asp434Asn) http://identifiers.org/clinvar/236608 ^@ NM_000038.5(APC):c.4776A>G (p.Lys1592=) http://identifiers.org/clinvar/238954 ^@ NM_001369.2(DNAH5):c.10457T>C (p.Met3486Thr) http://identifiers.org/clinvar/238654 ^@ NM_001206927.1(DNAH8):c.6726G>A (p.Leu2242=) http://identifiers.org/clinvar/241848 ^@ NM_138694.3(PKHD1):c.9469_9470delGCinsAA (p.Ala3157Asn) http://identifiers.org/clinvar/240848 ^@ NM_012123.3(MTO1):c.1717A>T (p.Thr573Ser) http://identifiers.org/clinvar/241398 ^@ NM_021930.5(RINT1):c.1662T>C (p.Ala554=) http://identifiers.org/clinvar/238904 ^@ NM_001277115.1(DNAH11):c.2912A>G (p.Asp971Gly) http://identifiers.org/clinvar/258507 ^@ NM_001999.3(FBN2):c.1231+37C>G http://identifiers.org/clinvar/258657 ^@ NM_002449.4(MSX2):c.386T>C (p.Met129Thr) http://identifiers.org/clinvar/261597 ^@ NM_022455.4(NSD1):c.7955C>T (p.Ala2652Val) http://identifiers.org/clinvar/257368 ^@ NM_001080479.2(ARHGEF28):c.3294T>C (p.Ala1098=) http://identifiers.org/clinvar/258157 ^@ NM_001491.2(GCNT2):c.216C>T (p.Cys72=) http://identifiers.org/clinvar/256068 ^@ NM_000426.3(LAMA2):c.3969T>C (p.Thr1323=) http://identifiers.org/clinvar/259107 ^@ NM_003630.2(PEX3):c.524-19T>C http://identifiers.org/clinvar/261097 ^@ NM_019105.6(TNXB):c.10671A>G (p.Leu3557=) http://identifiers.org/clinvar/261147 ^@ NM_019105.6(TNXB):c.6379G>A (p.Val2127Met) http://identifiers.org/clinvar/258357 ^@ NM_001851.4(COL9A1):c.2259+32T>C http://identifiers.org/clinvar/259357 ^@ NM_004370.5(COL12A1):c.9162C>T (p.Tyr3054=) http://identifiers.org/clinvar/257268 ^@ NM_001040167.1(LFNG):c.672C>T (p.Tyr224=) http://identifiers.org/clinvar/256768 ^@ NM_000722.3(CACNA2D1):c.528A>C (p.Ser176=) http://identifiers.org/clinvar/256218 ^@ NM_000466.2(PEX1):c.1671-7T>C http://identifiers.org/clinvar/256168 ^@ NM_000445.4(PLEC):c.1027-33C>G http://identifiers.org/clinvar/259257 ^@ NM_004260.3(RECQL4):c.1258+6A>T http://identifiers.org/clinvar/261297 ^@ NM_020476.2(ANK1):c.2073C>T (p.Gly691=) http://identifiers.org/clinvar/254729 ^@ NM_000035.3(ALDOB):c.-10-17C>T http://identifiers.org/clinvar/261197 ^@ NM_019892.5(INPP5E):c.1549+23A>G http://identifiers.org/clinvar/256318 ^@ NM_000507.3(FBP1):c.*21C>T http://identifiers.org/clinvar/256268 ^@ NM_000494.3(COL17A1):c.2398+19G>A http://identifiers.org/clinvar/261397 ^@ NM_020975.4(RET):c.2607+24C>T http://identifiers.org/clinvar/261547 ^@ NM_022124.5(CDH23):c.3370-29G>A http://identifiers.org/clinvar/258807 ^@ NM_002778.3(PSAP):c.1005+42C>G http://identifiers.org/clinvar/259407 ^@ NM_004523.3(KIF11):c.*19A>G http://identifiers.org/clinvar/259457 ^@ NM_004621.5(TRPC6):c.1818T>C (p.Ser606=) http://identifiers.org/clinvar/258557 ^@ NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) http://identifiers.org/clinvar/261247 ^@ NM_020376.3(PNPLA2):c.757+16C>T http://identifiers.org/clinvar/258207 ^@ NM_001844.4(COL2A1):c.1266+19delC http://identifiers.org/clinvar/259057 ^@ NM_003482.3(KMT2D):c.3819C>T (p.Cys1273=) http://identifiers.org/clinvar/258857 ^@ NM_002905.3(RDH5):c.423C>T (p.Ile141=) http://identifiers.org/clinvar/256668 ^@ NM_000552.4(VWF):c.3426T>C (p.Cys1142=) http://identifiers.org/clinvar/258257 ^@ NM_001845.5(COL4A1):c.4640+7C>T http://identifiers.org/clinvar/258707 ^@ NM_002471.3(MYH6):c.1962+39T>C http://identifiers.org/clinvar/257118 ^@ NM_001024858.2(SPTB):c.4476T>C (p.Leu1492=) http://identifiers.org/clinvar/256818 ^@ NM_000814.5(GABRB3):c.1080+15A>G http://identifiers.org/clinvar/255718 ^@ NM_000275.2(OCA2):c.1117-17T>C http://identifiers.org/clinvar/332903 ^@ NM_133378.4(TTN):c.24585T>C (p.Ser8195=) http://identifiers.org/clinvar/336104 ^@ NM_133259.3(LRPPRC):c.*2041C>A http://identifiers.org/clinvar/336154 ^@ NM_133259.3(LRPPRC):c.2228C>T (p.Ser743Phe) http://identifiers.org/clinvar/336054 ^@ NM_022436.2(ABCG5):c.266G>C (p.Gly89Ala) http://identifiers.org/clinvar/336511 ^@ NM_001135659.2(NRXN1):c.*2372G>A http://identifiers.org/clinvar/336611 ^@ NM_001039348.2(EFEMP1):c.*800C>T http://identifiers.org/clinvar/337600 ^@ NM_020184.3(CNNM4):c.*475C>T http://identifiers.org/clinvar/343030 ^@ NM_000373.3(UMPS):c.*4430C>T http://identifiers.org/clinvar/343180 ^@ NM_004637.5(RAB7A):c.*997T>G http://identifiers.org/clinvar/343630 ^@ NM_001184.3(ATR):c.59+4G>A http://identifiers.org/clinvar/343880 ^@ NM_004733.3(SLC33A1):c.613T>C (p.Leu205=) http://identifiers.org/clinvar/344030 ^@ NM_001041.3(SI):c.3408A>C (p.Arg1136Ser) http://identifiers.org/clinvar/350709 ^@ NM_032446.2(MEGF10):c.*3175G>A http://identifiers.org/clinvar/350609 ^@ NM_005573.3(LMNB1):c.-298G>T http://identifiers.org/clinvar/350809 ^@ NM_003060.3(SLC22A5):c.-107G>T http://identifiers.org/clinvar/350909 ^@ NM_001369.2(DNAH5):c.*1119T>C http://identifiers.org/clinvar/351009 ^@ NM_001369.2(DNAH5):c.12937G>C (p.Val4313Leu) http://identifiers.org/clinvar/351059 ^@ NM_001369.2(DNAH5):c.7825C>A (p.Pro2609Thr) http://identifiers.org/clinvar/351209 ^@ NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) http://identifiers.org/clinvar/351109 ^@ NM_199189.2(MATR3):c.-649C>T http://identifiers.org/clinvar/351159 ^@ NM_199189.2(MATR3):c.*708T>C http://identifiers.org/clinvar/351259 ^@ NM_005219.4(DIAPH1):c.*1597G>A http://identifiers.org/clinvar/351459 ^@ NM_054027.4(ANKH):c.*1893dupA http://identifiers.org/clinvar/351509 ^@ NM_003122.4(SPINK1):c.*34C>T http://identifiers.org/clinvar/355786 ^@ NM_203395.2(IYD):c.*6038C>A http://identifiers.org/clinvar/351709 ^@ NM_024577.3(SH3TC2):c.*10505A>G http://identifiers.org/clinvar/355836 ^@ NM_033071.3(SYNE1):c.20816T>A (p.Val6939Glu) http://identifiers.org/clinvar/351609 ^@ NM_024577.3(SH3TC2):c.*18554G>T http://identifiers.org/clinvar/351859 ^@ NM_024577.3(SH3TC2):c.*2141C>T http://identifiers.org/clinvar/351959 ^@ NM_000440.2(PDE6A):c.*1676T>C http://identifiers.org/clinvar/356036 ^@ NM_003730.4(RNASET2):c.224G>A (p.Cys75Tyr) http://identifiers.org/clinvar/356186 ^@ NM_001080.3(ALDH5A1):c.*2778delT http://identifiers.org/clinvar/359485 ^@ NM_001101426.3(ISPD):c.*4023C>A http://identifiers.org/clinvar/356236 ^@ NM_000434.3(NEU1):c.-13G>A http://identifiers.org/clinvar/359585 ^@ NM_001101426.3(ISPD):c.836-9delT http://identifiers.org/clinvar/359635 ^@ NM_001277115.1(DNAH11):c.5327A>T (p.Gln1776Leu) http://identifiers.org/clinvar/359735 ^@ NM_032581.3(FAM126A):c.*2108G>A http://identifiers.org/clinvar/352107 ^@ NM_005211.3(CSF1R):c.*512T>C http://identifiers.org/clinvar/352157 ^@ NM_005211.3(CSF1R):c.1085A>G (p.His362Arg) http://identifiers.org/clinvar/356486 ^@ NM_182548.3(LHFPL5):c.-63C>G http://identifiers.org/clinvar/359885 ^@ NM_018947.5(CYCS):c.*3613T>C http://identifiers.org/clinvar/352207 ^@ NM_001135243.1(TCOF1):c.1547C>T (p.Pro516Leu) http://identifiers.org/clinvar/359935 ^@ NM_018947.5(CYCS):c.*401A>G http://identifiers.org/clinvar/359985 ^@ NM_006735.3(HOXA2):c.-58C>G http://identifiers.org/clinvar/356686 ^@ NM_000409.4(GUCA1A):c.-457-8C>T http://identifiers.org/clinvar/352896 ^@ NM_022455.4(NSD1):c.*400C>T http://identifiers.org/clinvar/352996 ^@ NM_000505.3(F12):c.930G>C (p.Arg310Ser) http://identifiers.org/clinvar/352946 ^@ NM_022455.4(NSD1):c.*4609_*4611delCCC http://identifiers.org/clinvar/353196 ^@ NM_004553.4(NDUFS6):c.*27A>G http://identifiers.org/clinvar/353046 ^@ NM_014244.4(ADAMTS2):c.*2440G>A http://identifiers.org/clinvar/360874 ^@ NM_194456.1(KRIT1):c.*361C>G http://identifiers.org/clinvar/353396 ^@ NM_133433.3(NIPBL):c.*545A>G http://identifiers.org/clinvar/353296 ^@ NM_002185.3(IL7R):c.*1619G>T http://identifiers.org/clinvar/361374 ^@ NM_178857.5(RP1L1):c.1460C>T (p.Ala487Val) http://identifiers.org/clinvar/361530 ^@ NM_014112.4(TRPS1):c.*4633C>T http://identifiers.org/clinvar/353696 ^@ NM_000163.4(GHR):c.*629G>A http://identifiers.org/clinvar/361634 ^@ NM_014112.4(TRPS1):c.-78G>A http://identifiers.org/clinvar/353496 ^@ NM_000514.3(GDNF):c.*1587G>T http://identifiers.org/clinvar/353546 ^@ NM_002310.5(LIFR):c.*4801A>G http://identifiers.org/clinvar/353896 ^@ NM_006308.2(HSPB3):c.-89T>C http://identifiers.org/clinvar/306319 ^@ NM_032273.3(TMEM126A):c.-139C>T http://identifiers.org/clinvar/363873 ^@ NM_019098.4(CNGB3):c.1498A>G (p.Lys500Glu) http://identifiers.org/clinvar/299976 ^@ NM_002900.2(RBP3):c.1809C>T (p.Gly603=) http://identifiers.org/clinvar/306520 ^@ NM_016156.5(MTMR2):c.*1089C>G http://identifiers.org/clinvar/363923 ^@ NM_153704.5(TMEM67):c.2299G>A (p.Val767Ile) http://identifiers.org/clinvar/363973 ^@ NM_018444.3(PDP1):c.*1807T>A http://identifiers.org/clinvar/300176 ^@ NM_033056.3(PCDH15):c.4749G>A (p.Arg1583=) http://identifiers.org/clinvar/306620 ^@ NM_139319.2(SLC17A8):c.-88A>C http://identifiers.org/clinvar/364273 ^@ NM_001701.3(BAAT):c.*199A>T http://identifiers.org/clinvar/306820 ^@ NM_024312.4(GNPTAB):c.203G>A (p.Arg68Gln) http://identifiers.org/clinvar/300276 ^@ NM_000399.4(EGR2):c.924C>T (p.Ala308=) http://identifiers.org/clinvar/300426 ^@ NM_022124.5(CDH23):c.3614C>T (p.Ala1205Val) http://identifiers.org/clinvar/364373 ^@ NM_005502.3(ABCA1):c.*132A>G http://identifiers.org/clinvar/364423 ^@ NM_005502.3(ABCA1):c.3053A>G (p.Asp1018Gly) http://identifiers.org/clinvar/300576 ^@ NM_004273.4(CHST3):c.*410C>T http://identifiers.org/clinvar/364673 ^@ NM_015404.3(WHRN):c.*325dupC http://identifiers.org/clinvar/364523 ^@ NM_001079802.1(FKTN):c.*5003T>G http://identifiers.org/clinvar/307609 ^@ NM_012463.3(ATP6V0A2):c.*998T>C http://identifiers.org/clinvar/364573 ^@ NM_003640.4(IKBKAP):c.1709T>G (p.Val570Gly) http://identifiers.org/clinvar/300776 ^@ NM_002658.4(PLAU):c.*844delG http://identifiers.org/clinvar/300876 ^@ NM_012330.3(KAT6B):c.3246A>G (p.Glu1082=) http://identifiers.org/clinvar/307859 ^@ NM_172364.4(CACNA2D4):c.1563G>A (p.Thr521=) http://identifiers.org/clinvar/301026 ^@ NM_007055.3(POLR3A):c.*426C>T http://identifiers.org/clinvar/308009 ^@ NM_021957.3(GYS2):c.289A>G (p.Lys97Glu) http://identifiers.org/clinvar/301176 ^@ NM_000429.2(MAT1A):c.*529G>A http://identifiers.org/clinvar/308209 ^@ NM_000719.6(CACNA1C):c.*2946C>T http://identifiers.org/clinvar/301126 ^@ NM_001002295.1(GATA3):c.870C>T (p.Leu290=) http://identifiers.org/clinvar/308459 ^@ NM_001040436.2(YARS2):c.626A>G (p.Lys209Arg) http://identifiers.org/clinvar/308509 ^@ NM_004572.3(PKP2):c.1460A>G (p.Gln487Arg) http://identifiers.org/clinvar/308559 ^@ NM_017641.3(KIF21A):c.3302-5dupT http://identifiers.org/clinvar/366513 ^@ NM_001256054.2(C9orf72):c.1260-16_1260-13dupTTTC http://identifiers.org/clinvar/302515 ^@ NM_001680.4(FXYD2):c.*176T>G http://identifiers.org/clinvar/366563 ^@ NM_005802.4(TOPORS):c.2467A>G (p.Ser823Gly) http://identifiers.org/clinvar/366663 ^@ NM_001497.3(B4GALT1):c.357G>T (p.Val119=) http://identifiers.org/clinvar/366313 ^@ NM_002451.3(MTAP):c.*3766C>T http://identifiers.org/clinvar/366813 ^@ NM_005476.5(GNE):c.*1694G>C http://identifiers.org/clinvar/366413 ^@ NM_133497.3(KCNV2):c.245C>T (p.Thr82Ile) http://identifiers.org/clinvar/366913 ^@ NM_001042413.1(GLIS3):c.*2707T>G http://identifiers.org/clinvar/366613 ^@ NM_001497.3(B4GALT1):c.*2178T>G http://identifiers.org/clinvar/314302 ^@ NM_000428.2(LTBP2):c.2178C>T (p.Ala726=) http://identifiers.org/clinvar/314402 ^@ NM_001040108.1(MLH3):c.-208G>A http://identifiers.org/clinvar/340541 ^@ NM_006031.5(PCNT):c.9128A>G (p.Gln3043Arg) http://identifiers.org/clinvar/312713 ^@ NM_022489.3(INF2):c.*10C>T http://identifiers.org/clinvar/340891 ^@ NM_004782.3(SNAP29):c.*2816A>G http://identifiers.org/clinvar/340991 ^@ NM_022081.5(HPS4):c.*1227T>C http://identifiers.org/clinvar/322637 ^@ NM_000286.2(PEX12):c.*778G>A http://identifiers.org/clinvar/315052 ^@ NM_177438.2(DICER1):c.*3341C>T http://identifiers.org/clinvar/322887 ^@ NM_004937.2(CTNS):c.*1249C>T http://identifiers.org/clinvar/313602 ^@ NM_182914.2(SYNE2):c.14980T>C (p.Phe4994Leu) http://identifiers.org/clinvar/313652 ^@ NM_182914.2(SYNE2):c.19458C>T (p.Pro6486=) http://identifiers.org/clinvar/313952 ^@ NM_000021.3(PSEN1):c.*119T>C http://identifiers.org/clinvar/316341 ^@ NM_000138.4(FBN1):c.*1228T>C http://identifiers.org/clinvar/316441 ^@ NM_031226.2(CYP19A1):c.*2511G>A http://identifiers.org/clinvar/314552 ^@ NM_013382.5(POMT2):c.*75C>T http://identifiers.org/clinvar/314602 ^@ NM_004863.3(SPTLC2):c.*3668G>A http://identifiers.org/clinvar/324435 ^@ NM_000789.3(ACE):c.*730_*731dupCT http://identifiers.org/clinvar/314702 ^@ NM_000369.2(TSHR):c.*137delG http://identifiers.org/clinvar/324535 ^@ NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) http://identifiers.org/clinvar/314752 ^@ NM_000153.3(GALC):c.1006G>A (p.Val336Met) http://identifiers.org/clinvar/324735 ^@ NM_031220.3(PITPNM3):c.*556G>C http://identifiers.org/clinvar/317041 ^@ NM_000520.5(HEXA):c.1421+14G>C http://identifiers.org/clinvar/324785 ^@ NM_002734.4(PRKAR1A):c.*151A>G http://identifiers.org/clinvar/317141 ^@ NM_002435.2(MPI):c.1053+15A>G http://identifiers.org/clinvar/324985 ^@ NM_000018.3(ACADVL):c.205-7T>C http://identifiers.org/clinvar/325035 ^@ NM_173477.4(USH1G):c.*1224A>C http://identifiers.org/clinvar/325085 ^@ NM_207346.2(TSEN54):c.663G>A (p.Leu221=) http://identifiers.org/clinvar/325185 ^@ NM_001005731.2(ITGB4):c.3858G>A (p.Glu1286=) http://identifiers.org/clinvar/325285 ^@ NM_199242.2(UNC13D):c.-260C>T http://identifiers.org/clinvar/325335 ^@ NM_004035.6(ACOX1):c.*2239A>T http://identifiers.org/clinvar/315252 ^@ NM_139057.3(ADAMTS17):c.3138C>T (p.Thr1046=) http://identifiers.org/clinvar/373652 ^@ NM_001103.3(ACTN2):c.2551C>T (p.Arg851Cys) http://identifiers.org/clinvar/373152 ^@ NM_005529.6(HSPG2):c.149A>T (p.His50Leu) http://identifiers.org/clinvar/373702 ^@ NM_001167734.1(VARS2):c.1940C>T (p.Thr647Met) http://identifiers.org/clinvar/373502 ^@ NM_014141.5(CNTNAP2):c.1329C>A (p.Ser443Arg) http://identifiers.org/clinvar/372900 ^@ NM_020732.3(ARID1B):c.3048G>T (p.Met1016Ile) http://identifiers.org/clinvar/372696 ^@ NM_004333.4(BRAF):c.1694+2T>C http://identifiers.org/clinvar/373102 ^@ NM_000368.4(TSC1):c.1998-2A>G http://identifiers.org/clinvar/373552 ^@ NM_012338.3(TSPAN12):c.67-2A>G http://identifiers.org/clinvar/372746 ^@ NM_000048.3(ASL):c.539T>G (p.Leu180Arg) http://identifiers.org/clinvar/373252 ^@ NM_004281.3(BAG3):c.13A>G (p.Thr5Ala) http://identifiers.org/clinvar/373602 ^@ NM_014754.2(PTDSS1):c.911C>A (p.Thr304Asn) http://identifiers.org/clinvar/372952 ^@ NM_017617.4(NOTCH1):c.6176_6178delACA (p.Asn2059del) http://identifiers.org/clinvar/373402 ^@ NM_000834.3(GRIN2B):c.2530T>C (p.Trp844Arg) http://identifiers.org/clinvar/373352 ^@ NM_020297.3(ABCC9):c.1988G>A (p.Arg663His) http://identifiers.org/clinvar/373002 ^@ NM_020751.2(COG6):c.917G>T (p.Arg306Met) http://identifiers.org/clinvar/372849 ^@ NM_000138.4(FBN1):c.8275G>T (p.Glu2759Ter) http://identifiers.org/clinvar/373752 ^@ NM_001127221.1(CACNA1A):c.2609G>A (p.Arg870Gln) http://identifiers.org/clinvar/373802 ^@ NM_172107.3(KCNQ2):c.935T>C (p.Leu312Ser) http://identifiers.org/clinvar/373202 ^@ NM_001083962.1(TCF4):c.-511G>A http://identifiers.org/clinvar/373302 ^@ NM_006767.3(LZTR1):c.737A>C (p.Gln246Pro) http://identifiers.org/clinvar/372796 ^@ NM_018196.3(TMLHE):c.359-2A>G http://identifiers.org/clinvar/373452 ^@ NM_005629.3(SLC6A8):c.1861C>A (p.Pro621Thr) http://identifiers.org/clinvar/373052 ^@ NM_001039590.2(USP9X):c.2876C>A (p.Ser959Ter) http://identifiers.org/clinvar/373852 ^@ NG_005905.2:g.148011_151127del3117 http://identifiers.org/clinvar/373905 ^@ NM_001244008.1(KIF1A):c.232G>A (p.Gly78Ser) http://identifiers.org/clinvar/373955 ^@ NM_000297.3(PKD2):c.357_364delCCCGGGCAinsTAGGACG (p.Pro120Argfs) http://identifiers.org/clinvar/374846 ^@ NM_004644.4(AP3B2):c.1182G>A (p.Lys394=) http://identifiers.org/clinvar/374900 ^@ NM_015454.2(LARP7):c.651_655delGAAGA (p.Lys219Glufs) http://identifiers.org/clinvar/374963 ^@ NM_001040113.1(MYH11):c.5753C>T (p.Thr1918Met) http://identifiers.org/clinvar/375233 ^@ NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del http://identifiers.org/clinvar/375294 ^@ NM_003995.3(NPR2):c.2944G>A (p.Asp982Asn) http://identifiers.org/clinvar/375582 ^@ NM_001733.4(C1R):c.1303T>C (p.Trp435Arg) http://identifiers.org/clinvar/375640 ^@ NM_001198903.1(YY1AP1):c.2401G>T (p.Glu801Ter) http://identifiers.org/clinvar/375785 ^@ NM_000527.4(LDLR):c.503A>C (p.Asp168Ala) http://identifiers.org/clinvar/375835 ^@ NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) http://identifiers.org/clinvar/375888 ^@ NM_004304.4(ALK):c.3512T>A (p.Ile1171Asn) http://identifiers.org/clinvar/375938 ^@ NM_005631.4(SMO):c.1417G>C (p.Asp473His) http://identifiers.org/clinvar/379055 ^@ NM_005633.3(SOS1):c.-32C>T http://identifiers.org/clinvar/385143 ^@ NM_001256850.1(TTN):c.13581C>T (p.Ser4527=) http://identifiers.org/clinvar/389831 ^@ NM_000090.3(COL3A1):c.3963T>C (p.Ala1321=) http://identifiers.org/clinvar/380747 ^@ NM_000179.2(MSH6):c.3384T>C (p.Tyr1128=) http://identifiers.org/clinvar/384042 ^@ NM_033109.4(PNPT1):c.1149A>G (p.Ser383=) http://identifiers.org/clinvar/378297 ^@ NM_001135659.2(NRXN1):c.3485-109899A>G http://identifiers.org/clinvar/384893 ^@ NM_003849.3(SUCLG1):c.97+17C>T http://identifiers.org/clinvar/384793 ^@ NM_001615.3(ACTG2):c.347A>G (p.Asn116Ser) http://identifiers.org/clinvar/388792 ^@ NM_000249.3(MLH1):c.1989+20C>T http://identifiers.org/clinvar/390331 ^@ NM_198056.2(SCN5A):c.4722G>A (p.Glu1574=) http://identifiers.org/clinvar/381098 ^@ NM_003242.5(TGFBR2):c.81C>T (p.His27=) http://identifiers.org/clinvar/378147 ^@ NM_000249.3(MLH1):c.2104-19C>T http://identifiers.org/clinvar/390781 ^@ NM_006514.3(SCN10A):c.5358C>T (p.Ile1786=) http://identifiers.org/clinvar/390281 ^@ NM_015340.3(LARS2):c.235-12G>A http://identifiers.org/clinvar/392820 ^@ NM_005429.4(VEGFC):c.362-2A>T http://identifiers.org/clinvar/380797 ^@ NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn) http://identifiers.org/clinvar/378502 ^@ NM_005506.3(SCARB2):c.276-7C>G http://identifiers.org/clinvar/384543 ^@ NM_001025616.2(ARHGAP24):c.2225G>A (p.Gly742Glu) http://identifiers.org/clinvar/393220 ^@ NM_032446.2(MEGF10):c.733G>T (p.Val245Leu) http://identifiers.org/clinvar/390881 ^@ NM_000249.3(MLH1):c.116+4C>T http://identifiers.org/clinvar/382990 ^@ NM_002454.2(MTRR):c.781-14A>G http://identifiers.org/clinvar/383892 ^@ NM_002397.4(MEF2C):c.132G>A (p.Ala44=) http://identifiers.org/clinvar/390381 ^@ NM_000094.3(COL7A1):c.5388+5G>A http://identifiers.org/clinvar/385093 ^@ NM_003280.2(TNNC1):c.90C>T (p.Gly30=) http://identifiers.org/clinvar/392520 ^@ NM_004415.3(DSP):c.5173C>T (p.Arg1725Trp) http://identifiers.org/clinvar/393070 ^@ NM_080680.2(COL11A2):c.3381G>C (p.Glu1127Asp) http://identifiers.org/clinvar/392720 ^@ NM_000142.4(FGFR3):c.573C>T (p.Asn191=) http://identifiers.org/clinvar/388742 ^@ NM_014476.5(PDLIM3):c.858C>T (p.Gly286=) http://identifiers.org/clinvar/381248 ^@ NM_000535.6(PMS2):c.2217G>A (p.Leu739=) http://identifiers.org/clinvar/380646 ^@ NM_004519.3(KCNQ3):c.1677C>A (p.Ser559=) http://identifiers.org/clinvar/384492 ^@ NM_000445.4(PLEC):c.10419C>T (p.Ser3473=) http://identifiers.org/clinvar/384192 ^@ NM_005431.1(XRCC2):c.39+11C>T http://identifiers.org/clinvar/392970 ^@ NM_024531.4(SLC52A2):c.1228G>C (p.Val410Leu) http://identifiers.org/clinvar/380696 ^@ NM_001182.4(ALDH7A1):c.460T>C (p.Cys154Arg) http://identifiers.org/clinvar/381548 ^@ NM_000535.6(PMS2):c.933C>T (p.His311=) http://identifiers.org/clinvar/382540 ^@ NM_000031.5(ALAD):c.484T>A (p.Cys162Ser) http://identifiers.org/clinvar/390981 ^@ NM_003165.3(STXBP1):c.1703-9C>T http://identifiers.org/clinvar/378653 ^@ NM_001130438.2(SPTAN1):c.1512G>A (p.Ala504=) http://identifiers.org/clinvar/392370 ^@ NM_021167.4(GATAD1):c.71C>T (p.Ala24Val) http://identifiers.org/clinvar/384442 ^@ NM_014845.5(FIG4):c.2460-17T>C http://identifiers.org/clinvar/390531 ^@ NM_001079802.1(FKTN):c.766C>A (p.Arg256=) http://identifiers.org/clinvar/382940 ^@ NM_004408.3(DNM1):c.1197-7C>T http://identifiers.org/clinvar/384643 ^@ NM_007327.3(GRIN1):c.2022C>T (p.Asn674=) http://identifiers.org/clinvar/382790 ^@ NM_001167734.1(VARS2):c.1155G>A (p.Ser385=) http://identifiers.org/clinvar/378855 ^@ NM_003383.4(VLDLR):c.1809C>T (p.Asn603=) http://identifiers.org/clinvar/384843 ^@ NM_020822.2(KCNT1):c.474G>A (p.Ser158=) http://identifiers.org/clinvar/393020 ^@ NM_004415.3(DSP):c.5804A>G (p.Tyr1935Cys) http://identifiers.org/clinvar/392670 ^@ NM_001130438.2(SPTAN1):c.5358-5T>A http://identifiers.org/clinvar/133045 ^@ NM_000540.2(RYR1):c.130C>T (p.Arg44Cys) http://identifiers.org/clinvar/133095 ^@ NM_000540.2(RYR1):c.14869-1G>C http://identifiers.org/clinvar/133145 ^@ NM_000540.2(RYR1):c.5186T>G (p.Met1729Arg) http://identifiers.org/clinvar/133195 ^@ NM_000540.2(RYR1):c.7291G>T (p.Asp2431Tyr) http://identifiers.org/clinvar/133245 ^@ NM_000540.2(RYR1):c.982C>T (p.Arg328Trp) http://identifiers.org/clinvar/133325 ^@ NM_139242.3(MTFMT):c.73C>T (p.Gln25Ter) http://identifiers.org/clinvar/133387 ^@ NM_001317946.1(SMARCB1):c.514G>A (p.Ala172Thr) http://identifiers.org/clinvar/133437 ^@ NM_007313.2(ABL1):c.2200C>T (p.Arg734Cys) http://identifiers.org/clinvar/133487 ^@ NM_152424.3(AMER1):c.1796A>G (p.Tyr599Cys) http://identifiers.org/clinvar/133538 ^@ NM_000038.5(APC):c.3632T>G (p.Met1211Arg) http://identifiers.org/clinvar/133588 ^@ NM_015338.5(ASXL1):c.3935C>T (p.Ala1312Val) http://identifiers.org/clinvar/134183 ^@ NM_000123.3(ERCC5):c.876A>G (p.Ile292Met) http://identifiers.org/clinvar/134233 ^@ NM_017709.3(FAM46C):c.775G>T (p.Asp259Tyr) http://identifiers.org/clinvar/134284 ^@ NM_000135.2(FANCA):c.4273C>T (p.Arg1425Cys) http://identifiers.org/clinvar/134334 ^@ NM_021922.2(FANCE):c.266G>T (p.Arg89Leu) http://identifiers.org/clinvar/134385 ^@ NM_033632.3(FBXW7):c.479C>T (p.Pro160Leu) http://identifiers.org/clinvar/134435 ^@ NM_004119.2(FLT3):c.2050T>C (p.Ser684Pro) http://identifiers.org/clinvar/134485 ^@ NM_001077490.2(GNAS):c.991G>A (p.Gly331Arg) http://identifiers.org/clinvar/134535 ^@ NM_002185.3(IL7R):c.1099C>T (p.Leu367Phe) http://identifiers.org/clinvar/134585 ^@ NM_000215.3(JAK3):c.991G>A (p.Glu331Lys) http://identifiers.org/clinvar/134636 ^@ NM_005120.2(MED12):c.4111C>T (p.Pro1371Ser) http://identifiers.org/clinvar/134687 ^@ NM_003482.3(KMT2D):c.6392C>A (p.Thr2131Asn) http://identifiers.org/clinvar/134738 ^@ NM_170606.2(KMT2C):c.1344G>T (p.Gln448His) http://identifiers.org/clinvar/134788 ^@ NM_170606.2(KMT2C):c.10432C>G (p.Gln3478Glu) http://identifiers.org/clinvar/134839 ^@ NM_005373.2(MPL):c.1102G>T (p.Val368Leu) http://identifiers.org/clinvar/134892 ^@ NM_000268.3(NF2):c.107A>G (p.Asn36Ser) http://identifiers.org/clinvar/134942 ^@ NM_017617.4(NOTCH1):c.311A>G (p.Asn104Ser) http://identifiers.org/clinvar/134992 ^@ NM_024675.3(PALB2):c.833_834delTAinsAT (p.Leu278His) http://identifiers.org/clinvar/135042 ^@ NM_000534.4(PMS1):c.287C>G (p.Ala96Gly) http://identifiers.org/clinvar/135093 ^@ NM_000264.3(PTCH1):c.139C>T (p.Arg47Trp) http://identifiers.org/clinvar/135144 ^@ NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly) http://identifiers.org/clinvar/135225 ^@ NM_014159.6(SETD2):c.1343G>A (p.Arg448Gln) http://identifiers.org/clinvar/135276 ^@ NM_000455.4(STK11):c.619G>A (p.Asp207Asn) http://identifiers.org/clinvar/135326 ^@ NM_017628.4(TET2):c.3427A>G (p.Thr1143Ala) http://identifiers.org/clinvar/135376 ^@ NM_000548.4(TSC2):c.2768C>G (p.Ser923Cys) http://identifiers.org/clinvar/135427 ^@ NM_000553.4(WRN):c.2978G>A (p.Arg993His) http://identifiers.org/clinvar/135477 ^@ NM_004628.4(XPC):c.597A>C (p.Lys199Asn) http://identifiers.org/clinvar/135527 ^@ NM_000400.3(ERCC2):c.1119-80C>T http://identifiers.org/clinvar/135591 ^@ NM_002136.3(HNRNPA1):c.775A>G (p.Ser259Gly) http://identifiers.org/clinvar/135653 ^@ NM_001845.5(COL4A1):c.2086G>A (p.Gly696Ser) http://identifiers.org/clinvar/135713 ^@ NM_000038.5(APC):c.6609T>C (p.Val2203=) http://identifiers.org/clinvar/135764 ^@ NM_000051.3(ATM):c.609C>T (p.Asp203=) http://identifiers.org/clinvar/135822 ^@ NM_000075.3(CDK4):c.122A>G (p.Asn41Ser) http://identifiers.org/clinvar/135872 ^@ NM_000264.3(PTCH1):c.141G>C (p.Arg47=) http://identifiers.org/clinvar/135922 ^@ NM_000455.4(STK11):c.447A>G (p.Pro149=) http://identifiers.org/clinvar/135973 ^@ NM_001127500.2(MET):c.639G>A (p.Ser213=) http://identifiers.org/clinvar/136024 ^@ NM_002354.2(EPCAM):c.491C>T (p.Thr164Ile) http://identifiers.org/clinvar/136075 ^@ NM_005359.5(SMAD4):c.31A>G (p.Thr11Ala) http://identifiers.org/clinvar/136125 ^@ NM_020975.4(RET):c.868-9A>G http://identifiers.org/clinvar/136176 ^@ NM_005135.2(SLC12A6):c.1879dupT (p.Tyr627Leufs) http://identifiers.org/clinvar/136236 ^@ NM_000350.2:c.+10C>A http://identifiers.org/clinvar/136287 ^@ NM_001103.3(ACTN2):c.-22C>T http://identifiers.org/clinvar/136338 ^@ NM_005751.4(AKAP9):c.7451A>G (p.Lys2484Arg) http://identifiers.org/clinvar/136389 ^@ NM_001148.4(ANK2):c.2901-16C>G http://identifiers.org/clinvar/186327 ^@ NM_001042492.2(NF1):c.8497A>C (p.Asn2833His) http://identifiers.org/clinvar/186177 ^@ NM_002878.3(RAD51D):c.564delT (p.Val189Trpfs) http://identifiers.org/clinvar/185427 ^@ NM_007194.3(CHEK2):c.1182A>T (p.Glu394Asp) http://identifiers.org/clinvar/186077 ^@ NM_007194.3(CHEK2):c.1040A>T (p.Asp347Val) http://identifiers.org/clinvar/187772 ^@ NM_052867.2(NALCN):c.938T>G (p.Val313Gly) http://identifiers.org/clinvar/187829 ^@ NM_001127221.1(CACNA1A):c.631+5G>A http://identifiers.org/clinvar/187901 ^@ NM_005957.4(MTHFR):c.1753-18G>A http://identifiers.org/clinvar/187951 ^@ NM_004409.4(DMPK):c.*224_*226[265] http://identifiers.org/clinvar/188001 ^@ NM_004409.4(DMPK):c.*224_*226[54] http://identifiers.org/clinvar/188051 ^@ NM_001253815.1(SLC52A2):c.808C>T (p.Gln270Ter) http://identifiers.org/clinvar/188153 ^@ NM_003227.3(TFR2):c.2033G>C (p.Arg678Pro) http://identifiers.org/clinvar/188363 ^@ NM_000059.3(BRCA2):c.4627A>G (p.Lys1543Glu) http://identifiers.org/clinvar/188309 ^@ NM_000059.3(BRCA2):c.4691dupC (p.Thr1566Aspfs) http://identifiers.org/clinvar/188102 ^@ NM_000059.3(BRCA2):c.5675G>A (p.Gly1892Asp) http://identifiers.org/clinvar/188256 ^@ NM_004360.4(CDH1):c.884C>A (p.Thr295Asn) http://identifiers.org/clinvar/188204 ^@ NM_007294.3(BRCA1):c.1802A>G (p.His601Arg) http://identifiers.org/clinvar/188471 ^@ NM_004415.3(DSP):c.6410dupC (p.Val2138Cysfs) http://identifiers.org/clinvar/188571 ^@ NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=) http://identifiers.org/clinvar/188521 ^@ NM_000256.3(MYBPC3):c.179_180delAG (p.Glu60Glyfs) http://identifiers.org/clinvar/188421 ^@ NM_000059.3(BRCA2):c.316+108A>G http://identifiers.org/clinvar/188621 ^@ NM_000257.3(MYH7):c.3099+11T>C http://identifiers.org/clinvar/188671 ^@ NM_000363.4(TNNI3):c.232A>T (p.Thr78Ser) http://identifiers.org/clinvar/188721 ^@ NM_000441.1(SLC26A4):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/228278 ^@ NM_004999.3(MYO6):c.2839C>T (p.Arg947Ter) http://identifiers.org/clinvar/227247 ^@ NM_000739.2(CHRM2):c.1114C>G (p.Pro372Ala) http://identifiers.org/clinvar/227878 ^@ NM_016203.3(PRKAG2):c.720C>G (p.Ala240=) http://identifiers.org/clinvar/228328 ^@ NM_022124.5(CDH23):c.1949dupC (p.Leu651Serfs) http://identifiers.org/clinvar/228228 ^@ NM_014000.2(VCL):c.1017T>C (p.Arg339=) http://identifiers.org/clinvar/227497 ^@ NM_007078.2(LDB3):c.2025C>T (p.Pro675=) http://identifiers.org/clinvar/227777 ^@ NM_001277269.1(OTOG):c.4048C>T (p.Arg1350Trp) http://identifiers.org/clinvar/227827 ^@ NM_173591.3(OTOGL):c.92+7A>G http://identifiers.org/clinvar/228428 ^@ NM_005159.4(ACTC1):c.186delC (p.Ser62Argfs) http://identifiers.org/clinvar/227978 ^@ NM_020705.2(TBC1D24):c.1449C>T (p.Asn483=) http://identifiers.org/clinvar/227347 ^@ NM_032975.3(DTNA):c.603+15T>C http://identifiers.org/clinvar/227577 ^@ NM_001145809.1(MYH14):c.3987G>A (p.Gly1329=) http://identifiers.org/clinvar/227627 ^@ NM_033118.3(MYLK2):c.21A>G (p.Ala7=) http://identifiers.org/clinvar/228028 ^@ NM_001039141.2(TRIOBP):c.273A>G (p.Ala91=) http://identifiers.org/clinvar/227447 ^@ NM_021991.2(JUP):c.1218C>T (p.Asn406=) http://identifiers.org/clinvar/227677 ^@ NM_000260.3(MYO7A):c.1368C>T (p.Phe456=) http://identifiers.org/clinvar/228378 ^@ NM_000260.3(MYO7A):c.3591_3592delCT (p.Cys1198Argfs) http://identifiers.org/clinvar/231879 ^@ NM_007194.3(CHEK2):c.1417_1428del12 (p.Ala473_Thr476del) http://identifiers.org/clinvar/231779 ^@ NM_000251.2(MSH2):c.769G>A (p.Val257Ile) http://identifiers.org/clinvar/233169 ^@ NM_000179.2(MSH6):c.1800T>C (p.Asn600=) http://identifiers.org/clinvar/233669 ^@ NM_000179.2(MSH6):c.2580T>C (p.Ser860=) http://identifiers.org/clinvar/233369 ^@ NM_000179.2(MSH6):c.3845C>A (p.Thr1282Asn) http://identifiers.org/clinvar/233319 ^@ NM_000249.3(MLH1):c.483G>A (p.Thr161=) http://identifiers.org/clinvar/231679 ^@ NM_000249.3(MLH1):c.591A>G (p.Gln197=) http://identifiers.org/clinvar/233519 ^@ NM_000249.3(MLH1):c.794_800delGTCTGGT (p.Arg265Glnfs) http://identifiers.org/clinvar/233119 ^@ NM_000249.3(MLH1):c.1911T>G (p.Ile637Met) http://identifiers.org/clinvar/264679 ^@ NM_000400.3(ERCC2):c.2048G>A (p.Arg683Gln) http://identifiers.org/clinvar/264736 ^@ NM_001242896.1(DEPDC5):c.2390delA (p.Gln797ArgfsTer18) http://identifiers.org/clinvar/264791 ^@ NM_007294.3(BRCA1):c.135-1803dup http://identifiers.org/clinvar/264841 ^@ NM_007294.3(BRCA1):c.81-508A>C http://identifiers.org/clinvar/265591 ^@ NM_025243.3(SLC19A3):c.1314+1G>A http://identifiers.org/clinvar/265691 ^@ NM_000548.4(TSC2):c.1194delC (p.Asn398Lysfs) http://identifiers.org/clinvar/265490 ^@ NM_001127464.2(ZNF469):c.7554delC (p.Ser2519Alafs) http://identifiers.org/clinvar/265641 ^@ NM_004278.3(PIGL):c.60G>A (p.Trp20Ter) http://identifiers.org/clinvar/265440 ^@ NM_139276.2(STAT3):c.1840A>G (p.Ser614Gly) http://identifiers.org/clinvar/265540 ^@ NM_173630.3(RTTN):c.2927T>C (p.Phe976Ser) http://identifiers.org/clinvar/265780 ^@ NM_003900.4(SQSTM1):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/265930 ^@ NM_174936.3(PCSK9):c.658-36G>A http://identifiers.org/clinvar/265880 ^@ NM_000384.2(APOB):c.1353-12C>T http://identifiers.org/clinvar/265985 ^@ NM_001042472.2(ABHD12):c.971C>T (p.Pro324Leu) http://identifiers.org/clinvar/266036 ^@ NM_001013838.1(CARMIL2):c.871+1G>T http://identifiers.org/clinvar/266112 ^@ NM_058172.5(ANTXR2):c.1148G>A (p.Gly383Asp) http://identifiers.org/clinvar/266612 ^@ NM_000059.3(BRCA2):c.1184G>A (p.Trp395Ter) http://identifiers.org/clinvar/266662 ^@ NM_000059.3(BRCA2):c.1811_1812delAAinsG (p.Lys604Argfs) http://identifiers.org/clinvar/266712 ^@ NM_000059.3(BRCA2):c.2650delT (p.Ser884Glnfs) http://identifiers.org/clinvar/266762 ^@ NM_000059.3(BRCA2):c.3631G>T (p.Glu1211Ter) http://identifiers.org/clinvar/266812 ^@ NM_000059.3(BRCA2):c.4424dupT (p.Met1475Ilefs) http://identifiers.org/clinvar/266862 ^@ NM_000059.3(BRCA2):c.5217_5218delTTinsA (p.Tyr1739Terfs) http://identifiers.org/clinvar/266912 ^@ NM_000059.3(BRCA2):c.5994delA (p.Val1999Cysfs) http://identifiers.org/clinvar/266962 ^@ NM_000059.3(BRCA2):c.6557C>G (p.Ser2186Ter) http://identifiers.org/clinvar/267012 ^@ NM_000059.3(BRCA2):c.7469delT (p.Ile2490Asnfs) http://identifiers.org/clinvar/266562 ^@ NM_007294.3(BRCA1):c.5542C>T (p.Gln1848Ter) http://identifiers.org/clinvar/266512 ^@ NM_007294.3(BRCA1):c.5027delT (p.Leu1676Terfs) http://identifiers.org/clinvar/266462 ^@ NM_007294.3(BRCA1):c.4239delA (p.Glu1413Aspfs) http://identifiers.org/clinvar/266412 ^@ NM_007294.3(BRCA1):c.3851_3852dupAC (p.Leu1285Thrfs) http://identifiers.org/clinvar/266362 ^@ NM_007294.3(BRCA1):c.3381T>G (p.Tyr1127Ter) http://identifiers.org/clinvar/266312 ^@ NM_007294.3(BRCA1):c.2864C>G (p.Ser955Ter) http://identifiers.org/clinvar/266262 ^@ NM_007294.3(BRCA1):c.2429dupA (p.Asn810Lysfs) http://identifiers.org/clinvar/266212 ^@ NM_007294.3(BRCA1):c.2077delGinsATA (p.Asp693Ilefs) http://identifiers.org/clinvar/266162 ^@ NM_007294.3(BRCA1):c.1378dupA (p.Ile460Asnfs) http://identifiers.org/clinvar/267433 ^@ NM_017780.3(CHD7):c.5235_5236dupGT (p.Tyr1746Cysfs) http://identifiers.org/clinvar/267519 ^@ NG_005905.2:g.125502_125503ins7 http://identifiers.org/clinvar/280160 ^@ NM_033343.3(LHX4):c.295delA (p.Thr99Profs) http://identifiers.org/clinvar/290891 ^@ NM_000350.2(ABCA4):c.1410A>C (p.Glu470Asp) http://identifiers.org/clinvar/290941 ^@ NM_033071.3(SYNE1):c.18874G>A (p.Glu6292Lys) http://identifiers.org/clinvar/290991 ^@ NM_025219.2(DNAJC5):c.75C>T (p.Asn25=) http://identifiers.org/clinvar/291041 ^@ NM_000935.2(PLOD2):c.934C>A (p.Pro312Thr) http://identifiers.org/clinvar/291091 ^@ NM_033100.3(CDHR1):c.2246_2253delGCACCATC (p.Arg749Profs) http://identifiers.org/clinvar/291141 ^@ NM_144672.3(OTOA):c.2148C>A (p.Cys716Ter) http://identifiers.org/clinvar/291192 ^@ NM_004565.2(PEX14):c.567C>T (p.His189=) http://identifiers.org/clinvar/291242 ^@ NM_000272.3(NPHP1):c.50A>G (p.Asn17Ser) http://identifiers.org/clinvar/291292 ^@ NM_000287.3(PEX6):c.1511G>A (p.Ser504Asn) http://identifiers.org/clinvar/291407 ^@ NM_001918.3(DBT):c.*5150A>G http://identifiers.org/clinvar/291457 ^@ NM_015074.3(KIF1B):c.-208G>C http://identifiers.org/clinvar/291507 ^@ NM_001854.3(COL11A1):c.4140+13T>A http://identifiers.org/clinvar/291557 ^@ NM_001854.3(COL11A1):c.-188G>A http://identifiers.org/clinvar/291649 ^@ NM_015074.3(KIF1B):c.*3742T>C http://identifiers.org/clinvar/291699 ^@ NM_013296.4(GPSM2):c.-245T>A http://identifiers.org/clinvar/291749 ^@ NM_007375.3(TARDBP):c.*963C>T http://identifiers.org/clinvar/291799 ^@ NM_006610.3(MASP2):c.555C>T (p.Ser185=) http://identifiers.org/clinvar/291899 ^@ NM_013319.2(UBIAD1):c.*1495T>C http://identifiers.org/clinvar/292049 ^@ NM_138959.2(VANGL1):c.*2187T>C http://identifiers.org/clinvar/291849 ^@ NM_003051.3(SLC16A1):c.*104C>T http://identifiers.org/clinvar/292199 ^@ NM_005957.4(MTHFR):c.*2222C>T http://identifiers.org/clinvar/292249 ^@ NM_000302.3(PLOD1):c.-77G>A http://identifiers.org/clinvar/292099 ^@ NM_138959.2(VANGL1):c.*5929G>A http://identifiers.org/clinvar/291949 ^@ NM_002524.4(NRAS):c.*2805T>C http://identifiers.org/clinvar/292449 ^@ NM_005266.6(GJA5):c.369C>T (p.Tyr123=) http://identifiers.org/clinvar/292649 ^@ NM_152263.3(TPM3):c.*3822G>T http://identifiers.org/clinvar/291999 ^@ NM_138959.2(VANGL1):c.-171C>A http://identifiers.org/clinvar/292349 ^@ NM_000302.3(PLOD1):c.1930C>T (p.Arg644Cys) http://identifiers.org/clinvar/292749 ^@ NM_001111.4(ADAR):c.*361C>G http://identifiers.org/clinvar/292149 ^@ NM_005957.4(MTHFR):c.*4884C>G http://identifiers.org/clinvar/292549 ^@ NM_019032.5(ADAMTSL4):c.2288C>G (p.Pro763Arg) http://identifiers.org/clinvar/292599 ^@ NM_000449.3(RFX5):c.*985delT http://identifiers.org/clinvar/292299 ^@ NM_006623.3(PHGDH):c.-140A>G http://identifiers.org/clinvar/292399 ^@ NM_014874.3(MFN2):c.*1153C>T http://identifiers.org/clinvar/292499 ^@ NM_004698.2(PRPF3):c.822G>C (p.Leu274=) http://identifiers.org/clinvar/293638 ^@ NM_000130.4(F5):c.538G>A (p.Glu180Lys) http://identifiers.org/clinvar/292699 ^@ NM_006118.3(HAX1):c.-150A>T http://identifiers.org/clinvar/293688 ^@ NM_006894.5(FMO3):c.260T>A (p.Ile87Asn) http://identifiers.org/clinvar/293738 ^@ NM_000639.2(FASLG):c.451+7A>G http://identifiers.org/clinvar/294088 ^@ NM_000433.3(NCF2):c.-249_-248insA http://identifiers.org/clinvar/294138 ^@ NM_031935.2(HMCN1):c.3861A>G (p.Pro1287=) http://identifiers.org/clinvar/294188 ^@ NM_031935.2(HMCN1):c.7515G>T (p.Gly2505=) http://identifiers.org/clinvar/294288 ^@ NM_031935.2(HMCN1):c.15352T>A (p.Ser5118Thr) http://identifiers.org/clinvar/294338 ^@ NM_003748.3(ALDH4A1):c.*1173C>T http://identifiers.org/clinvar/294388 ^@ NM_003748.3(ALDH4A1):c.446T>A (p.Val149Glu) http://identifiers.org/clinvar/294438 ^@ NM_024529.4(CDC73):c.*1761T>C http://identifiers.org/clinvar/294638 ^@ NM_018136.4(ASPM):c.3599-7A>C http://identifiers.org/clinvar/293788 ^@ NM_022089.3(ATP13A2):c.1744G>A (p.Gly582Ser) http://identifiers.org/clinvar/294888 ^@ NM_001005337.2(PKP1):c.*2752G>A http://identifiers.org/clinvar/295038 ^@ NM_005216.4(DDOST):c.*577_*578insTAAATAAATAAATAAAAAAA http://identifiers.org/clinvar/294938 ^@ NM_003465.2(CHIT1):c.89A>G (p.Asn30Ser) http://identifiers.org/clinvar/343380 ^@ NM_153240.4(NPHP3):c.2985C>T (p.Tyr995=) http://identifiers.org/clinvar/336304 ^@ NM_001430.4(EPAS1):c.*983C>A http://identifiers.org/clinvar/343480 ^@ NM_000532.4(PCCB):c.*44C>T http://identifiers.org/clinvar/343530 ^@ NM_024334.2(TMEM43):c.*1080G>T http://identifiers.org/clinvar/336411 ^@ NM_002354.2(EPCAM):c.*28G>A http://identifiers.org/clinvar/336461 ^@ NM_000233.3(LHCGR):c.1360G>A (p.Val454Ile) http://identifiers.org/clinvar/336204 ^@ NM_000341.3(SLC3A1):c.1332+7C>T http://identifiers.org/clinvar/343830 ^@ NM_005677.3(COLQ):c.*994G>A http://identifiers.org/clinvar/336254 ^@ NM_001430.4(EPAS1):c.861G>A (p.Glu287=) http://identifiers.org/clinvar/344869 ^@ NM_006371.4(CRTAP):c.*3485G>A http://identifiers.org/clinvar/344919 ^@ NM_001106.3(ACVR2B):c.1452G>A (p.Ser484=) http://identifiers.org/clinvar/336561 ^@ NM_001135659.2(NRXN1):c.-232T>C http://identifiers.org/clinvar/345269 ^@ NM_016006.4(ABHD5):c.*2935C>A http://identifiers.org/clinvar/345519 ^@ NM_024513.3(FYCO1):c.1765G>A (p.Glu589Lys) http://identifiers.org/clinvar/344819 ^@ NM_006371.4(CRTAP):c.*348A>G http://identifiers.org/clinvar/345669 ^@ NM_015175.2(NBEAL2):c.4978C>T (p.Arg1660Cys) http://identifiers.org/clinvar/344969 ^@ NM_001106.3(ACVR2B):c.*2619C>T http://identifiers.org/clinvar/345019 ^@ NM_001106.3(ACVR2B):c.*7341A>G http://identifiers.org/clinvar/345069 ^@ NM_198056.2(SCN5A):c.*1705C>T http://identifiers.org/clinvar/345219 ^@ NM_016006.4(ABHD5):c.430T>C (p.Leu144=) http://identifiers.org/clinvar/345319 ^@ NM_182760.3(SUMF1):c.602+12C>T http://identifiers.org/clinvar/345419 ^@ NM_020208.3(SLC6A20):c.507G>A (p.Glu169=) http://identifiers.org/clinvar/342830 ^@ NM_053025.3(MYLK):c.*1509_*1511dupATA http://identifiers.org/clinvar/342880 ^@ NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) http://identifiers.org/clinvar/342930 ^@ NM_000373.3(UMPS):c.857T>A (p.Ile286Asn) http://identifiers.org/clinvar/342980 ^@ NM_000373.3(UMPS):c.*2712_*2713dupTG http://identifiers.org/clinvar/343080 ^@ NM_025265.3(TSEN2):c.1029C>T (p.Tyr343=) http://identifiers.org/clinvar/343130 ^@ NM_032638.4(GATA2):c.*101G>A http://identifiers.org/clinvar/343280 ^@ NM_000539.3(RHO):c.624C>T (p.Phe208=) http://identifiers.org/clinvar/343430 ^@ NM_001063.3(TF):c.334A>G (p.Thr112Ala) http://identifiers.org/clinvar/343230 ^@ NM_052985.3(IFT122):c.199C>A (p.Arg67Ser) http://identifiers.org/clinvar/343330 ^@ NM_014382.3(ATP2C1):c.1905C>A (p.Asn635Lys) http://identifiers.org/clinvar/343680 ^@ NM_031850.3(AGTR1):c.*317G>A http://identifiers.org/clinvar/343730 ^@ NM_032383.4(HPS3):c.*129_*130insGC http://identifiers.org/clinvar/343780 ^@ NM_000096.3(CP):c.921G>A (p.Lys307=) http://identifiers.org/clinvar/343580 ^@ NM_001184.3(ATR):c.*72T>G http://identifiers.org/clinvar/343930 ^@ NM_024996.5(GFM1):c.1083+3A>G http://identifiers.org/clinvar/353946 ^@ NM_001104631.1(PDE4D):c.*2288A>G http://identifiers.org/clinvar/353596 ^@ NM_002310.5(LIFR):c.*648C>G http://identifiers.org/clinvar/361984 ^@ NM_003235.4(TG):c.6324G>A (p.Arg2108=) http://identifiers.org/clinvar/362034 ^@ NM_006096.3(NDRG1):c.855+14_855+15delAG http://identifiers.org/clinvar/353746 ^@ NM_002203.3(ITGA2):c.955G>A (p.Ala319Thr) http://identifiers.org/clinvar/362084 ^@ NM_031466.7(TRAPPC9):c.1729C>T (p.Leu577Phe) http://identifiers.org/clinvar/354146 ^@ NM_003719.3(PDE8B):c.125G>C (p.Gly42Ala) http://identifiers.org/clinvar/362334 ^@ NM_006765.3(TUSC3):c.*1665T>C http://identifiers.org/clinvar/362634 ^@ NM_006158.4(NEFL):c.*565delT http://identifiers.org/clinvar/362734 ^@ NM_001017420.2(ESCO2):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/362784 ^@ NM_000553.4(WRN):c.-289delG http://identifiers.org/clinvar/359335 ^@ NM_016203.3(PRKAG2):c.*522G>T http://identifiers.org/clinvar/363373 ^@ NM_017813.4(IMPAD1):c.*2138A>G http://identifiers.org/clinvar/359535 ^@ NM_001101426.3(ISPD):c.*2239A>G http://identifiers.org/clinvar/355136 ^@ NM_002667.4(PLN):c.-97-5T>C http://identifiers.org/clinvar/363673 ^@ NM_000503.5(EYA1):c.-263C>T http://identifiers.org/clinvar/363823 ^@ NM_000318.2(PEX2):c.-273G>A http://identifiers.org/clinvar/359835 ^@ NM_004403.2(DFNA5):c.*72C>T http://identifiers.org/clinvar/364023 ^@ NM_001001557.3(GDF6):c.*380A>G http://identifiers.org/clinvar/355686 ^@ NM_203395.2(IYD):c.*239C>T http://identifiers.org/clinvar/364623 ^@ NM_000031.5(ALAD):c.*1675C>T http://identifiers.org/clinvar/356386 ^@ NM_080680.2(COL11A2):c.4080G>A (p.Gly1360=) http://identifiers.org/clinvar/356136 ^@ NM_001080.3(ALDH5A1):c.727-15T>C http://identifiers.org/clinvar/356536 ^@ NM_182548.3(LHFPL5):c.*510_*512delACAinsTCTCTCTCTCT http://identifiers.org/clinvar/356586 ^@ NM_001145717.1(PNPLA1):c.*649G>A http://identifiers.org/clinvar/356636 ^@ NM_005943.5(MOCS1):c.*1095G>A http://identifiers.org/clinvar/356436 ^@ NM_021922.2(FANCE):c.-132A>G http://identifiers.org/clinvar/356736 ^@ NM_002098.5(GUCA1B):c.171T>C (p.Tyr57=) http://identifiers.org/clinvar/356986 ^@ NM_006502.2(POLH):c.*3769T>C http://identifiers.org/clinvar/356836 ^@ NM_014780.4(CUL7):c.2720T>C (p.Val907Ala) http://identifiers.org/clinvar/356886 ^@ NM_006502.2(POLH):c.-274C>A http://identifiers.org/clinvar/361734 ^@ NM_014846.3(WASHC5):c.316A>G (p.Ile106Val) http://identifiers.org/clinvar/361784 ^@ NM_004519.3(KCNQ3):c.*5932A>C http://identifiers.org/clinvar/366213 ^@ NM_003070.4(SMARCA2):c.2770-7C>G http://identifiers.org/clinvar/303165 ^@ NM_018400.3(SCN3B):c.*1746G>A http://identifiers.org/clinvar/366863 ^@ NM_012203.1(GRHPR):c.*146A>G http://identifiers.org/clinvar/311563 ^@ NM_014363.5(SACS):c.1278A>T (p.Leu426Phe) http://identifiers.org/clinvar/311613 ^@ NM_018451.4(CENPJ):c.2992-18_2992-16delGTT http://identifiers.org/clinvar/311713 ^@ NM_004795.3(KL):c.*174A>G http://identifiers.org/clinvar/367013 ^@ NM_001042413.1(GLIS3):c.-345C>T http://identifiers.org/clinvar/311963 ^@ NM_207361.5(FREM2):c.3254T>C (p.Ile1085Thr) http://identifiers.org/clinvar/312013 ^@ NM_207361.5(FREM2):c.7177G>A (p.Ala2393Thr) http://identifiers.org/clinvar/364123 ^@ NM_004612.3(TGFBR1):c.*1704G>T http://identifiers.org/clinvar/367213 ^@ NM_004817.3(TJP2):c.296C>T (p.Ser99Leu) http://identifiers.org/clinvar/312163 ^@ NM_020751.2(COG6):c.*1441_*1443delAGA http://identifiers.org/clinvar/312263 ^@ NM_003850.2(SUCLA2):c.*205T>C http://identifiers.org/clinvar/312413 ^@ NM_001004127.2(ALG11):c.933G>A (p.Pro311=) http://identifiers.org/clinvar/312513 ^@ NM_052910.2(SLITRK1):c.-245dupT http://identifiers.org/clinvar/312663 ^@ NM_001376.4(DYNC1H1):c.13219-9C>T http://identifiers.org/clinvar/364173 ^@ NM_004612.3(TGFBR1):c.*3716T>C http://identifiers.org/clinvar/304754 ^@ NM_018389.4(SLC35C1):c.*955C>A http://identifiers.org/clinvar/313452 ^@ NM_005982.3(SIX1):c.*755T>G http://identifiers.org/clinvar/313502 ^@ NM_182914.2(SYNE2):c.3639-12C>T http://identifiers.org/clinvar/305004 ^@ NM_000519.3(HBD):c.225C>T (p.Gly75=) http://identifiers.org/clinvar/313702 ^@ NM_000347.5(SPTB):c.6236G>A (p.Arg2079His) http://identifiers.org/clinvar/299526 ^@ NM_001081.3(CUBN):c.1245T>C (p.Gly415=) http://identifiers.org/clinvar/313852 ^@ NM_015346.3(ZFYVE26):c.*1409C>T http://identifiers.org/clinvar/305156 ^@ NM_000327.3(ROM1):c.-329G>T http://identifiers.org/clinvar/299676 ^@ NM_017433.4(MYO3A):c.3993C>T (p.Val1331=) http://identifiers.org/clinvar/314252 ^@ NM_000428.2(LTBP2):c.*1180C>T http://identifiers.org/clinvar/299826 ^@ NM_021252.4(RAB18):c.*278A>T http://identifiers.org/clinvar/305506 ^@ NM_000391.3(TPP1):c.1653C>G (p.Pro551=) http://identifiers.org/clinvar/305456 ^@ NM_024649.4(BBS1):c.6C>T (p.Ala2=) http://identifiers.org/clinvar/314502 ^@ NM_004452.3(ESRRB):c.*755G>C http://identifiers.org/clinvar/305606 ^@ NM_006946.2(SPTBN2):c.-56C>T http://identifiers.org/clinvar/314652 ^@ NM_004863.3(SPTLC2):c.*697C>G http://identifiers.org/clinvar/305656 ^@ NM_145200.3(CABP4):c.541+14C>T http://identifiers.org/clinvar/299576 ^@ NM_201590.2(CACNB2):c.*70_*71dupAA http://identifiers.org/clinvar/299626 ^@ NM_178161.2(PTF1A):c.654C>A (p.Leu218=) http://identifiers.org/clinvar/300326 ^@ NM_001083116.1(PRF1):c.*46T>C http://identifiers.org/clinvar/299876 ^@ NM_021252.4(RAB18):c.*3696T>A http://identifiers.org/clinvar/306169 ^@ NM_000260.3(MYO7A):c.1690+9G>T http://identifiers.org/clinvar/306269 ^@ NM_024698.5(SLC25A22):c.53C>T (p.Ala18Val) http://identifiers.org/clinvar/300026 ^@ NM_000124.3(ERCC6):c.*388C>A http://identifiers.org/clinvar/300076 ^@ NM_000124.3(ERCC6):c.1761G>T (p.Thr587=) http://identifiers.org/clinvar/300126 ^@ NM_000242.2(MBL2):c.*1568C>T http://identifiers.org/clinvar/300226 ^@ NM_000417.2(IL2RA):c.*1267G>A http://identifiers.org/clinvar/329214 ^@ NM_017827.3(SARS2):c.917-4C>T http://identifiers.org/clinvar/315152 ^@ NM_139057.3(ADAMTS17):c.*2313T>C http://identifiers.org/clinvar/329264 ^@ NM_181882.2(PRX):c.2727C>T (p.Pro909=) http://identifiers.org/clinvar/318183 ^@ NM_014714.3(IFT140):c.1918G>A (p.Asp640Asn) http://identifiers.org/clinvar/329664 ^@ NM_025136.3(OPA3):c.*986dupA http://identifiers.org/clinvar/329714 ^@ NM_000554.5(CRX):c.*591G>C http://identifiers.org/clinvar/329764 ^@ NM_000554.5(CRX):c.*2539C>T http://identifiers.org/clinvar/318233 ^@ NM_004970.2(IGFALS):c.1708G>A (p.Asp570Asn) http://identifiers.org/clinvar/311663 ^@ NM_000059.3(BRCA2):c.*50A>G http://identifiers.org/clinvar/330114 ^@ NM_015629.3(PRPF31):c.*152G>A http://identifiers.org/clinvar/311763 ^@ NM_015087.4(SPG20):c.1964C>T (p.Thr655Met) http://identifiers.org/clinvar/330214 ^@ NM_001256714.1(DNAAF3):c.1094C>T (p.Thr365Met) http://identifiers.org/clinvar/311863 ^@ NM_001127217.2(SMAD9):c.*1031C>T http://identifiers.org/clinvar/318783 ^@ NM_173201.3(ATP2A1):c.2091C>G (p.Ile697Met) http://identifiers.org/clinvar/306670 ^@ NM_018979.3(WNK1):c.*378A>G http://identifiers.org/clinvar/319133 ^@ NM_032444.2(SLX4):c.*652A>G http://identifiers.org/clinvar/319183 ^@ NM_032444.2(SLX4):c.752C>T (p.Ala251Val) http://identifiers.org/clinvar/312363 ^@ NM_000053.3(ATP7B):c.*1005G>T http://identifiers.org/clinvar/312463 ^@ NM_000115.4(EDNRB):c.*918_*921delTTTG http://identifiers.org/clinvar/319333 ^@ NM_000293.2(PHKB):c.400G>A (p.Asp134Asn) http://identifiers.org/clinvar/319433 ^@ NM_022162.2(NOD2):c.646+15T>C http://identifiers.org/clinvar/338200 ^@ NM_006892.3(DNMT3B):c.*1076C>T http://identifiers.org/clinvar/338300 ^@ NM_000178.3(GSS):c.768-3C>T http://identifiers.org/clinvar/338350 ^@ NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) http://identifiers.org/clinvar/311413 ^@ NM_002010.2(FGF9):c.-171A>G http://identifiers.org/clinvar/338550 ^@ NM_004994.2(MMP9):c.836A>G (p.Gln279Arg) http://identifiers.org/clinvar/338600 ^@ NM_030777.3(SLC2A10):c.*50T>C http://identifiers.org/clinvar/338700 ^@ NM_006420.2(ARFGEF2):c.4316-12T>C http://identifiers.org/clinvar/338750 ^@ NM_003859.2(DPM1):c.779C>T (p.Thr260Ile) http://identifiers.org/clinvar/338901 ^@ NM_002591.3(PCK1):c.*357_*358dupAT http://identifiers.org/clinvar/339001 ^@ NM_004738.4(VAPB):c.*5095T>G http://identifiers.org/clinvar/339051 ^@ NM_001001433.2(STX16):c.557-7G>C http://identifiers.org/clinvar/311813 ^@ NM_001127217.2(SMAD9):c.*3713T>C http://identifiers.org/clinvar/339251 ^@ NM_017671.4(FERMT1):c.-514T>G http://identifiers.org/clinvar/320723 ^@ NM_012213.2(MLYCD):c.463G>T (p.Val155Leu) http://identifiers.org/clinvar/339301 ^@ NM_001853.3(COL9A3):c.1679G>C (p.Gly560Ala) http://identifiers.org/clinvar/320773 ^@ NM_178452.5(DNAAF1):c.1245C>G (p.Thr415=) http://identifiers.org/clinvar/339351 ^@ NM_025219.2(DNAJC5):c.-125_-120dupGCCGCC http://identifiers.org/clinvar/313552 ^@ NM_182914.2(SYNE2):c.10269C>G (p.Ile3423Met) http://identifiers.org/clinvar/320873 ^@ NM_001127464.2(ZNF469):c.1875C>A (p.Leu625=) http://identifiers.org/clinvar/320973 ^@ NM_001127464.2(ZNF469):c.7430C>T (p.Pro2477Leu) http://identifiers.org/clinvar/321223 ^@ NM_000303.2(PMM2):c.*17G>A http://identifiers.org/clinvar/313752 ^@ NM_000347.5(SPTB):c.2116C>T (p.Arg706Cys) http://identifiers.org/clinvar/312213 ^@ NM_014252.3(SLC25A15):c.*2097T>A http://identifiers.org/clinvar/321173 ^@ NM_000512.4(GALNS):c.*546C>T http://identifiers.org/clinvar/313902 ^@ NM_015346.3(ZFYVE26):c.3970T>A (p.Ser1324Thr) http://identifiers.org/clinvar/312313 ^@ NM_000321.2(RB1):c.*1022C>T http://identifiers.org/clinvar/340040 ^@ NM_024022.2(TMPRSS3):c.*815A>G http://identifiers.org/clinvar/340090 ^@ NM_000071.2(CBS):c.352G>A (p.Val118Met) http://identifiers.org/clinvar/314102 ^@ NM_031427.3(DNAL1):c.*5350C>G http://identifiers.org/clinvar/340240 ^@ NM_130445.3(COL18A1):c.2277+14G>T http://identifiers.org/clinvar/314202 ^@ NM_182894.2(VSX2):c.921G>T (p.Ala307=) http://identifiers.org/clinvar/340340 ^@ NM_001848.2(COL6A1):c.*367C>A http://identifiers.org/clinvar/326875 ^@ NM_144612.6(LOXHD1):c.868G>A (p.Gly290Arg) http://identifiers.org/clinvar/326975 ^@ NM_001080467.2(MYO5B):c.*1056delT http://identifiers.org/clinvar/327025 ^@ NM_001080467.2(MYO5B):c.3591C>T (p.Tyr1197=) http://identifiers.org/clinvar/368281 ^@ NM_001039891.2(ZNF674):c.*1975G>A http://identifiers.org/clinvar/329164 ^@ NM_033064.4(ATCAY):c.*681A>G http://identifiers.org/clinvar/327625 ^@ NM_133459.3(CCBE1):c.*2901T>A http://identifiers.org/clinvar/329464 ^@ NM_000483.4(APOC2):c.*308dupT http://identifiers.org/clinvar/329614 ^@ NM_025136.3(OPA3):c.*3891C>T http://identifiers.org/clinvar/329814 ^@ NM_002103.4(GYS1):c.1246A>G (p.Met416Val) http://identifiers.org/clinvar/330264 ^@ NM_006087.3(TUBB4A):c.624C>T (p.Tyr208=) http://identifiers.org/clinvar/330414 ^@ NM_000208.3(INSR):c.*930dupA http://identifiers.org/clinvar/338100 ^@ NM_015338.5(ASXL1):c.2544A>T (p.Thr848=) http://identifiers.org/clinvar/329314 ^@ NM_003573.2(LTBP4):c.2188C>T (p.Arg730Trp) http://identifiers.org/clinvar/329364 ^@ NM_000709.3(BCKDHA):c.648G>T (p.Ala216=) http://identifiers.org/clinvar/329414 ^@ NM_152296.4(ATP1A3):c.1714A>G (p.Asn572Asp) http://identifiers.org/clinvar/338450 ^@ NM_000457.4(HNF4A):c.*965G>T http://identifiers.org/clinvar/338851 ^@ NM_144773.3(PROKR2):c.1122C>A (p.Thr374=) http://identifiers.org/clinvar/338801 ^@ NM_000782.4(CYP24A1):c.*454G>A http://identifiers.org/clinvar/329864 ^@ NM_017636.3(TRPM4):c.2380C>T (p.Leu794=) http://identifiers.org/clinvar/339101 ^@ NM_001001433.2(STX16):c.*2365A>T http://identifiers.org/clinvar/330064 ^@ NM_002739.4(PRKCG):c.712C>T (p.Arg238Cys) http://identifiers.org/clinvar/330164 ^@ NM_206828.3(NLRP7):c.1725G>T (p.Leu575=) http://identifiers.org/clinvar/330314 ^@ NM_000064.3(C3):c.1898A>G (p.Lys633Arg) http://identifiers.org/clinvar/339990 ^@ NM_020639.2(RIPK4):c.*983G>A http://identifiers.org/clinvar/338250 ^@ NM_032034.3(SLC4A11):c.1039C>T (p.Arg347Trp) http://identifiers.org/clinvar/340591 ^@ NM_014339.6(IL17RA):c.1100C>T (p.Ala367Val) http://identifiers.org/clinvar/338500 ^@ NM_000022.3(ADA):c.*282C>T http://identifiers.org/clinvar/340641 ^@ NM_014339.6(IL17RA):c.*1379A>T http://identifiers.org/clinvar/340691 ^@ NM_014339.6(IL17RA):c.*3762G>A http://identifiers.org/clinvar/340941 ^@ NM_016327.2(UPB1):c.*398G>C http://identifiers.org/clinvar/338951 ^@ NM_004738.4(VAPB):c.*1485_*1486dupGT http://identifiers.org/clinvar/339151 ^@ NM_207034.2(EDN3):c.*864C>G http://identifiers.org/clinvar/341191 ^@ NM_000355.3(TCN2):c.265T>C (p.Phe89Leu) http://identifiers.org/clinvar/390031 ^@ NM_017617.4(NOTCH1):c.2354-5T>C http://identifiers.org/clinvar/384693 ^@ NM_017617.4(NOTCH1):c.1441+7C>T http://identifiers.org/clinvar/390231 ^@ NM_004456.4(EZH2):c.1547-10C>T http://identifiers.org/clinvar/383992 ^@ NM_020822.2(KCNT1):c.1614C>T (p.Arg538=) http://identifiers.org/clinvar/385043 ^@ NM_000051.3(ATM):c.186-19G>A http://identifiers.org/clinvar/390831 ^@ NM_017946.3(FKBP14):c.375G>C (p.Leu125=) http://identifiers.org/clinvar/381598 ^@ NM_000162.3(GCK):c.1099G>A (p.Val367Met) http://identifiers.org/clinvar/377795 ^@ NM_203447.3(DOCK8):c.1356G>A (p.Leu452=) http://identifiers.org/clinvar/381498 ^@ NM_000535.6(PMS2):c.537+16C>T http://identifiers.org/clinvar/391870 ^@ NM_006393.2(NEBL):c.1946A>G (p.Gln649Arg) http://identifiers.org/clinvar/378755 ^@ NM_000391.3(TPP1):c.318C>T (p.Ala106=) http://identifiers.org/clinvar/390181 ^@ NM_006231.3(POLE):c.4533C>T (p.Ser1511=) http://identifiers.org/clinvar/392620 ^@ NM_006231.3(POLE):c.2322G>A (p.Val774=) http://identifiers.org/clinvar/378197 ^@ NM_000256.3(MYBPC3):c.3628-6T>C http://identifiers.org/clinvar/380998 ^@ NM_000256.3(MYBPC3):c.1422G>A (p.Glu474=) http://identifiers.org/clinvar/390681 ^@ NM_003482.3(KMT2D):c.15467A>G (p.Tyr5156Cys) http://identifiers.org/clinvar/378553 ^@ NM_014191.3(SCN8A):c.497C>T (p.Thr166Ile) http://identifiers.org/clinvar/378347 ^@ NM_003477.2(PDHX):c.618C>G (p.Gly206=) http://identifiers.org/clinvar/382690 ^@ NM_000391.3(TPP1):c.1058C>A (p.Thr353Asn) http://identifiers.org/clinvar/383040 ^@ NM_002496.3(NDUFS8):c.110-11C>T http://identifiers.org/clinvar/381648 ^@ NM_006231.3(POLE):c.5862C>T (p.Asp1954=) http://identifiers.org/clinvar/381448 ^@ NM_024678.5(NARS2):c.*4G>A http://identifiers.org/clinvar/391920 ^@ NM_007327.3(GRIN1):c.1864+17C>T http://identifiers.org/clinvar/377945 ^@ NM_000834.3(GRIN2B):c.1704C>T (p.Ile568=) http://identifiers.org/clinvar/377895 ^@ NM_005249.4(FOXG1):c.1254C>T (p.Phe418=) http://identifiers.org/clinvar/377845 ^@ NM_000136.2(FANCC):c.844-14T>C http://identifiers.org/clinvar/390481 ^@ NM_024685.3(BBS10):c.1822A>G (p.Ile608Val) http://identifiers.org/clinvar/384993 ^@ NM_000282.3(PCCA):c.1285-4C>T http://identifiers.org/clinvar/393170 ^@ NM_003482.3(KMT2D):c.4342T>A (p.Cys1448Ser) http://identifiers.org/clinvar/382640 ^@ NM_024537.3(CARS2):c.1407A>C (p.Ala469=) http://identifiers.org/clinvar/384943 ^@ NM_014191.3(SCN8A):c.1204C>T (p.Leu402=) http://identifiers.org/clinvar/390431 ^@ NM_020987.4(ANK3):c.5408C>A (p.Ser1803Tyr) http://identifiers.org/clinvar/391970 ^@ NM_002755.3(MAP2K1):c.568+11A>T http://identifiers.org/clinvar/382489 ^@ NM_002693.2(POLG):c.3105-5C>T http://identifiers.org/clinvar/389781 ^@ NM_001271.3(CHD2):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/392570 ^@ NM_001376.4(DYNC1H1):c.6595G>C (p.Val2199Leu) http://identifiers.org/clinvar/383942 ^@ NM_130799.2(MEN1):c.-40G>C http://identifiers.org/clinvar/382890 ^@ NM_001199107.1(TBC1D24):c.327C>A (p.Arg109=) http://identifiers.org/clinvar/378703 ^@ NM_001199107.1(TBC1D24):c.546G>A (p.Thr182=) http://identifiers.org/clinvar/381198 ^@ NM_000126.3(ETFA):c.451+14G>A http://identifiers.org/clinvar/381048 ^@ NM_030962.3(SBF2):c.2319G>A (p.Ala773=) http://identifiers.org/clinvar/384292 ^@ NM_002693.2(POLG):c.1950-13G>C http://identifiers.org/clinvar/381298 ^@ NM_000138.4(FBN1):c.2168-19G>T http://identifiers.org/clinvar/388442 ^@ NM_012463.3(ATP6V0A2):c.1970C>T (p.Ala657Val) http://identifiers.org/clinvar/390581 ^@ NM_001127464.2(ZNF469):c.11484C>T (p.Arg3828=) http://identifiers.org/clinvar/11 ^@ NM_000410.3(HFE):c.193A>T (p.Ser65Cys) http://identifiers.org/clinvar/559 ^@ NM_000140.3(FECH):c.68_194del http://identifiers.org/clinvar/632 ^@ NM_000277.1(PAH):c.734T>C (p.Val245Ala) http://identifiers.org/clinvar/641 ^@ NM_001136194.1(FASTKD2):c.1294C>T (p.Arg432Ter) http://identifiers.org/clinvar/673 ^@ PROC, IVS7DS, C-T, +9 http://identifiers.org/clinvar/714 ^@ NM_000512.4(GALNS):c.178G>A (p.Asp60Asn) http://identifiers.org/clinvar/781 ^@ NM_198488.3(FAM83H):c.1379G>A (p.Trp460Ter) http://identifiers.org/clinvar/845 ^@ NM_012463.3(ATP6V0A2):c.187C>T (p.Arg63Ter) http://identifiers.org/clinvar/873 ^@ NM_006953.3(UPK3A):c.818C>T (p.Pro273Leu) http://identifiers.org/clinvar/882 ^@ NM_000046.3(ARSB):c.743delC (p.Pro248Leufs) http://identifiers.org/clinvar/891 ^@ RARS2, IVS2, A-G, +5 http://identifiers.org/clinvar/1050 ^@ NM_022489.3(INF2):c.556T>C (p.Ser186Pro) http://identifiers.org/clinvar/1118 ^@ NM_017875.2(SLC25A38):c.349C>T (p.Arg117Ter) http://identifiers.org/clinvar/1127 ^@ SLC35D1, IVS4DS, A-G, +3 http://identifiers.org/clinvar/11043 ^@ EDA, 1-BP DEL, EX6 http://identifiers.org/clinvar/11089 ^@ NM_001128834.2(PLP1):c.710T>C (p.Phe237Ser) http://identifiers.org/clinvar/11133 ^@ WAS, 2-BP DEL, 73AC http://identifiers.org/clinvar/11224 ^@ NM_004006.2(DMD):c.2314G>T (p.Glu772Ter) http://identifiers.org/clinvar/11314 ^@ NM_000033.3(ABCD1):c.871_873delGAG (p.Glu292del) http://identifiers.org/clinvar/11519 ^@ DLG3, IVS8DS, G-A, +1 http://identifiers.org/clinvar/11569 ^@ NM_002578.4(PAK3):c.199C>T (p.Arg67Cys) http://identifiers.org/clinvar/11619 ^@ NM_005183.3(CACNA1F):c.2267T>C (p.Ile756Thr) http://identifiers.org/clinvar/11669 ^@ HCCS, 8.6-KB DEL http://identifiers.org/clinvar/11720 ^@ NM_000686.4(AGTR2):c.157A>T (p.Ile53Phe) http://identifiers.org/clinvar/11772 ^@ NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) http://identifiers.org/clinvar/11822 ^@ MECP2, 44-BP DEL, NT1159 http://identifiers.org/clinvar/11872 ^@ NM_000137.2(FAH):c.1141A>G (p.Arg381Gly) http://identifiers.org/clinvar/36676 ^@ NM_000444.5(PHEX):c.1999G>T (p.Gly667Ter) http://identifiers.org/clinvar/36730 ^@ NM_001035.2(RYR2):c.1134C>T (p.Asp378=) http://identifiers.org/clinvar/36781 ^@ NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) http://identifiers.org/clinvar/36831 ^@ NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser) http://identifiers.org/clinvar/36881 ^@ NM_000363.4(TNNI3):c.373-10G= http://identifiers.org/clinvar/36949 ^@ NM_198253.2(TERT):c.2705A>G (p.Lys902Arg) http://identifiers.org/clinvar/37044 ^@ FANCB, 2-BP DEL, 1857AG http://identifiers.org/clinvar/37112 ^@ NM_005585.4(SMAD6):c.1244C>T (p.Pro415Leu) http://identifiers.org/clinvar/37247 ^@ KCNV2, GLY461ARG http://identifiers.org/clinvar/37322 ^@ ABCD4, 1456G-T http://identifiers.org/clinvar/37406 ^@ NM_007294.3(BRCA1):c.1360_1361delAG (p.Ser454Terfs) http://identifiers.org/clinvar/37459 ^@ NM_007294.3(BRCA1):c.2269delG (p.Val757Phefs) http://identifiers.org/clinvar/37513 ^@ NM_007294.3(BRCA1):c.3185G>T (p.Gly1062Val) http://identifiers.org/clinvar/37569 ^@ NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) http://identifiers.org/clinvar/37621 ^@ NM_007294.3(BRCA1):c.4991T>C (p.Leu1664Pro) http://identifiers.org/clinvar/38237 ^@ NM_000059.3(BRCA2):c.9385C>T (p.Pro3129Ser) http://identifiers.org/clinvar/242681 ^@ NM_000171.3(GLRA1):c.288G>T (p.Trp96Cys) http://identifiers.org/clinvar/38354 ^@ NM_002437.4(MPV17):c.280G>C (p.Gly94Arg) http://identifiers.org/clinvar/38411 ^@ NM_018972.2(GDAP1):c.347T>G (p.Met116Arg) http://identifiers.org/clinvar/38553 ^@ NM_000155.3(GALT):c.879C>T (p.Ser293=) http://identifiers.org/clinvar/38739 ^@ NM_005359.5(SMAD4):c.189_197delAAATGGAGCins44 (p.?) http://identifiers.org/clinvar/38789 ^@ NM_000495.4(COL4A5):c.5030G>T (p.Arg1677Leu) http://identifiers.org/clinvar/38913 ^@ NM_001079.3(ZAP70):c.1714A>T (p.Met572Leu) http://identifiers.org/clinvar/38963 ^@ NM_001885.2(CRYAB):c.343delT (p.Ser115Profs) http://identifiers.org/clinvar/39015 ^@ NM_016938.4(EFEMP2):c.775A>G (p.Ile259Val) http://identifiers.org/clinvar/51188 ^@ NM_000059.3(BRCA2):c.1765_1766delAA (p.Lys589Valfs) http://identifiers.org/clinvar/51240 ^@ NM_000059.3(BRCA2):c.2064T>G (p.Tyr688Ter) http://identifiers.org/clinvar/51291 ^@ NM_000059.3(BRCA2):c.2459A>G (p.Asp820Gly) http://identifiers.org/clinvar/51342 ^@ NM_000059.3(BRCA2):c.2774_2775delCT (p.Ser925Tyrfs) http://identifiers.org/clinvar/51392 ^@ NM_000059.3(BRCA2):c.306dupA (p.Leu103Ilefs) http://identifiers.org/clinvar/51443 ^@ NM_000059.3(BRCA2):c.3277delT (p.Ser1093Profs) http://identifiers.org/clinvar/51494 ^@ NM_000059.3(BRCA2):c.3622T>A (p.Leu1208Ile) http://identifiers.org/clinvar/51545 ^@ NM_000059.3(BRCA2):c.3860delA (p.Asn1287Ilefs) http://identifiers.org/clinvar/51597 ^@ NM_000059.3(BRCA2):c.4101dupA (p.Leu1368Ilefs) http://identifiers.org/clinvar/51649 ^@ NM_000059.3(BRCA2):c.4440T>G (p.Tyr1480Ter) http://identifiers.org/clinvar/51701 ^@ NM_000059.3(BRCA2):c.470_474delAGTCA (p.Lys157Serfs) http://identifiers.org/clinvar/51751 ^@ NM_000059.3(BRCA2):c.4965delC (p.Tyr1655Terfs) http://identifiers.org/clinvar/51803 ^@ NM_000059.3(BRCA2):c.5171T>C (p.Ile1724Thr) http://identifiers.org/clinvar/51856 ^@ NM_000059.3(BRCA2):c.5404C>T (p.Gln1802Ter) http://identifiers.org/clinvar/51907 ^@ NM_000059.3(BRCA2):c.5669T>C (p.Met1890Thr) http://identifiers.org/clinvar/51959 ^@ NM_000059.3(BRCA2):c.587G>T (p.Ser196Ile) http://identifiers.org/clinvar/52011 ^@ NM_000059.3(BRCA2):c.6099A>G (p.Ile2033Met) http://identifiers.org/clinvar/52062 ^@ NM_000059.3(BRCA2):c.632-1G>T http://identifiers.org/clinvar/52116 ^@ NM_000059.3(BRCA2):c.6491_6494delAGTT (p.Gln2164Argfs) http://identifiers.org/clinvar/52167 ^@ NM_000059.3(BRCA2):c.6714T>G (p.Asp2238Glu) http://identifiers.org/clinvar/52217 ^@ NM_000059.3(BRCA2):c.6892G>A (p.Glu2298Lys) http://identifiers.org/clinvar/52268 ^@ NM_000059.3(BRCA2):c.7107A>C (p.Glu2369Asp) http://identifiers.org/clinvar/52319 ^@ NM_000059.3(BRCA2):c.7408_7409delTT (p.Phe2470Hisfs) http://identifiers.org/clinvar/52369 ^@ NM_000059.3(BRCA2):c.7618-27T>A http://identifiers.org/clinvar/52420 ^@ NM_000059.3(BRCA2):c.7806-9T>G http://identifiers.org/clinvar/52470 ^@ NM_000059.3(BRCA2):c.8009C>A (p.Ser2670Ter) http://identifiers.org/clinvar/53271 ^@ NM_000492.3(CFTR):c.1505T>A (p.Ile502Asn) http://identifiers.org/clinvar/53322 ^@ NM_000492.3(CFTR):c.1657C>G (p.Arg553Gly) http://identifiers.org/clinvar/53372 ^@ NM_000492.3(CFTR):c.175dupA (p.Arg59Lysfs) http://identifiers.org/clinvar/53423 ^@ NM_000492.3(CFTR):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/53476 ^@ NM_000492.3(CFTR):c.233delT (p.Phe78Serfs) http://identifiers.org/clinvar/53527 ^@ NM_000492.3(CFTR):c.2620-1G>C http://identifiers.org/clinvar/53680 ^@ NM_000492.3(CFTR):c.319_326delGCTTCCTA (p.Ala107Terfs) http://identifiers.org/clinvar/53730 ^@ NM_000492.3(CFTR):c.3389G>C (p.Gly1130Ala) http://identifiers.org/clinvar/53781 ^@ NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) http://identifiers.org/clinvar/53833 ^@ NM_000492.3(CFTR):c.3874-4A>G http://identifiers.org/clinvar/53885 ^@ NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) http://identifiers.org/clinvar/53936 ^@ NM_000492.3:c.4268+2T>G http://identifiers.org/clinvar/53986 ^@ NM_000492.3(CFTR):c.523A>G (p.Ile175Val) http://identifiers.org/clinvar/54036 ^@ NM_000492.3(CFTR):c.658C>T (p.Gln220Ter) http://identifiers.org/clinvar/54088 ^@ NM_000492.3(CFTR):c.940G>C (p.Gly314Arg) http://identifiers.org/clinvar/54138 ^@ NM_007294.3(BRCA1):c.1122_1123delAC (p.Leu375Lysfs) http://identifiers.org/clinvar/54188 ^@ NM_007294.3(BRCA1):c.1292dupT (p.Leu431Phefs) http://identifiers.org/clinvar/54238 ^@ NM_007294.3(BRCA1):c.1392delC (p.Tyr465Ilefs) http://identifiers.org/clinvar/54289 ^@ NM_007294.3(BRCA1):c.1551delT (p.Phe517Leufs) http://identifiers.org/clinvar/54339 ^@ NM_007294.3(BRCA1):c.1741A>T (p.Lys581Ter) http://identifiers.org/clinvar/54390 ^@ NM_007294.3(BRCA1):c.189dupA (p.Cys64Metfs) http://identifiers.org/clinvar/54440 ^@ NM_007294.3(BRCA1):c.2021delC (p.Pro674Leufs) http://identifiers.org/clinvar/54490 ^@ NM_007294.3(BRCA1):c.2192_2196delAAGAA (p.Lys731Argfs) http://identifiers.org/clinvar/54540 ^@ NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) http://identifiers.org/clinvar/54590 ^@ NM_007294.3(BRCA1):c.2518delA (p.Ser840Valfs) http://identifiers.org/clinvar/54840 ^@ NM_007294.3(BRCA1):c.3328_3330delAAG (p.Lys1110del) http://identifiers.org/clinvar/54890 ^@ NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) http://identifiers.org/clinvar/54940 ^@ NM_007294.3(BRCA1):c.3622A>G (p.Lys1208Glu) http://identifiers.org/clinvar/54992 ^@ NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) http://identifiers.org/clinvar/55043 ^@ NM_007294.3(BRCA1):c.3901_3902delAG (p.Ser1301Terfs) http://identifiers.org/clinvar/55950 ^@ NM_000027.3(AGA):c.677G>A (p.Gly226Asp) http://identifiers.org/clinvar/56001 ^@ NM_000111.2(SLC26A3):c.392delC (p.Pro131Argfs) http://identifiers.org/clinvar/56054 ^@ NM_000170.2(GLDC):c.1931G>T (p.Cys644Phe) http://identifiers.org/clinvar/56105 ^@ NM_000170.2(GLDC):c.808G>T (p.Glu270Ter) http://identifiers.org/clinvar/56159 ^@ NM_000130.4(F5):c.3187dupA (p.Arg1063Lysfs) http://identifiers.org/clinvar/56210 ^@ NM_000310.3(PPT1):c.665T>C (p.Leu222Pro) http://identifiers.org/clinvar/56261 ^@ NM_001042432.1(CLN3):c.233dupG (p.Thr80Asnfs) http://identifiers.org/clinvar/56312 ^@ NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs) http://identifiers.org/clinvar/56363 ^@ NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) http://identifiers.org/clinvar/56415 ^@ NM_004483.4(GCSH):c.425-1G>T http://identifiers.org/clinvar/56465 ^@ NM_004646.3(NPHS1):c.2171C>G (p.Ser724Cys) http://identifiers.org/clinvar/56515 ^@ NM_004646.3(NPHS1):c.574C>T (p.Gln192Ter) http://identifiers.org/clinvar/56566 ^@ NM_015294.4(TRIM37):c.1894_1895delGA (p.Glu632Lysfs) http://identifiers.org/clinvar/56623 ^@ NM_017777.3(MKS1):c.472C>T (p.Arg158Ter) http://identifiers.org/clinvar/56674 ^@ NM_017890.4(VPS13B):c.5461dupC (p.Arg1821Profs) http://identifiers.org/clinvar/56724 ^@ NM_018965.3(TREM2):c.40G>T (p.Glu14Ter) http://identifiers.org/clinvar/56774 ^@ NM_153704.5(TMEM67):c.2357G>A (p.Gly786Glu) http://identifiers.org/clinvar/226394 ^@ NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) http://identifiers.org/clinvar/56907 ^@ NM_004369.3(COL6A3):c.6193G>A (p.Gly2065Ser) http://identifiers.org/clinvar/57035 ^@ GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 http://identifiers.org/clinvar/57089 ^@ GRCh38/hg38 16p13.3(chr16:2046988-2060016)x3 http://identifiers.org/clinvar/57144 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3 http://identifiers.org/clinvar/57194 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 http://identifiers.org/clinvar/57247 ^@ GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3 http://identifiers.org/clinvar/57301 ^@ GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 http://identifiers.org/clinvar/57354 ^@ GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 http://identifiers.org/clinvar/57405 ^@ GRCh38/hg38 22q13.32-13.33(chr22:49020386-49672085)x3 http://identifiers.org/clinvar/101172 ^@ NM_000090.3(COL3A1):c.1808G>T (p.Gly603Val) http://identifiers.org/clinvar/101222 ^@ NM_000090.3(COL3A1):c.1906G>C (p.Gly636Arg) http://identifiers.org/clinvar/101272 ^@ NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY) http://identifiers.org/clinvar/101322 ^@ NM_000090.3(COL3A1):c.764G>T (p.Gly255Val) http://identifiers.org/clinvar/101372 ^@ NM_000090.3(COL3A1):c.2887G>T (p.Gly963Cys) http://identifiers.org/clinvar/102700 ^@ NM_000277.1(PAH):c.493G>A (p.Ala165Thr) http://identifiers.org/clinvar/102750 ^@ NM_000277.1(PAH):c.60+40T>G http://identifiers.org/clinvar/125666 ^@ NM_007294.3(BRCA1):c.301+8T>C http://identifiers.org/clinvar/125727 ^@ NM_007294.3(BRCA1):c.4676-8C>G http://identifiers.org/clinvar/125801 ^@ U14680.1:n.5312_5395del84incDNA http://identifiers.org/clinvar/125865 ^@ U14680.1:n.561-36_561-34delCTT http://identifiers.org/clinvar/125928 ^@ NM_000059.3(BRCA2):c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs) http://identifiers.org/clinvar/125992 ^@ NM_000059.3(BRCA2):c.2739C>T (p.Asp913=) http://identifiers.org/clinvar/126057 ^@ NM_000059.3(BRCA2):c.4981_4982insG (p.Tyr1661Terfs) http://identifiers.org/clinvar/126130 ^@ NM_000059.3(BRCA2):c.502C>G (p.Pro168Ala) http://identifiers.org/clinvar/126189 ^@ NM_000059.3(BRCA2):c.8745_8748dupTTAC (p.Glu2918Profs) http://identifiers.org/clinvar/126249 ^@ NM_025114.3(CEP290):c.2268G= (p.Ser756=) http://identifiers.org/clinvar/126299 ^@ NM_153704.5(TMEM67):c.1309C>G (p.Leu437Val) http://identifiers.org/clinvar/126350 ^@ NM_003070.4(SMARCA2):c.482C>T (p.Pro161Leu) http://identifiers.org/clinvar/126406 ^@ NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) http://identifiers.org/clinvar/126474 ^@ NM_021625.4(TRPV4):c.1875G>A (p.Met625Ile) http://identifiers.org/clinvar/126556 ^@ NM_198576.3(AGRN):c.1057C>T (p.Gln353Ter) http://identifiers.org/clinvar/126611 ^@ NM_024675.3(PALB2):c.1633G>T (p.Glu545Ter) http://identifiers.org/clinvar/126663 ^@ NM_024675.3(PALB2):c.2586+58C>T http://identifiers.org/clinvar/126713 ^@ NM_024675.3(PALB2):c.3114-42G>T http://identifiers.org/clinvar/126764 ^@ NM_024675.3(PALB2):c.697delG (p.Val233Leufs) http://identifiers.org/clinvar/126815 ^@ NG_009009.1:g.5168-?_5303+?(2) http://identifiers.org/clinvar/126868 ^@ NM_000610.3(CD44):c.67+14128T>C http://identifiers.org/clinvar/126924 ^@ NM_001127464.2(ZNF469):c.3119A>C (p.Lys1040Thr) http://identifiers.org/clinvar/126974 ^@ NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) http://identifiers.org/clinvar/127024 ^@ NM_005591.3(MRE11):c.*431G>T http://identifiers.org/clinvar/127076 ^@ NM_003165.3(STXBP1):c.847G>A (p.Glu283Lys) http://identifiers.org/clinvar/127145 ^@ NM_005861.3(STUB1):c.441G>T (p.Trp147Cys) http://identifiers.org/clinvar/161256 ^@ NM_000238.3(KCNH2):c.1603G>A (p.Val535Met) http://identifiers.org/clinvar/161356 ^@ NM_000264.3(PTCH1):c.2945G>A (p.Arg982Gln) http://identifiers.org/clinvar/161306 ^@ NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) http://identifiers.org/clinvar/161412 ^@ NM_001543.4(NDST1):c.1831G>A (p.Gly611Ser) http://identifiers.org/clinvar/161625 ^@ NM_004841.3(RASAL2):c.3397G>T (p.Glu1133Ter) http://identifiers.org/clinvar/161475 ^@ NM_000888.4(ITGB6):c.1460G>A (p.Gly487Glu) http://identifiers.org/clinvar/161775 ^@ NM_030782.4(CLPTM1L):c.749G>A (p.Arg250His) http://identifiers.org/clinvar/161725 ^@ NM_018945.3(PDE7B):c.742C>T (p.Arg248Ter) http://identifiers.org/clinvar/161675 ^@ NM_014320.2(HEBP2):c.125A>G (p.His42Arg) http://identifiers.org/clinvar/161825 ^@ NM_153765.2(KCNJ1):c.1145A>T (p.Asn382Ile) http://identifiers.org/clinvar/161525 ^@ NM_001135919.1(SLC46A3):c.1189G>A (p.Val397Ile) http://identifiers.org/clinvar/161575 ^@ NM_001214909.1(ZNF48):c.1624C>T (p.Pro542Ser) http://identifiers.org/clinvar/242630 ^@ NM_000760.3(CSF3R):c.1245delG (p.Thr416Profs) http://identifiers.org/clinvar/161989 ^@ NM_002769.4(PRSS1):c.360C>T (p.Asn120=) http://identifiers.org/clinvar/162055 ^@ NM_001244008.1(KIF1A):c.499C>T (p.Arg167Cys) http://identifiers.org/clinvar/162115 ^@ NM_005211.3(CSF1R):c.2566T>C (p.Tyr856His) http://identifiers.org/clinvar/162174 ^@ NM_133509.3(RAD51B):c.853+26380G>A http://identifiers.org/clinvar/162386 ^@ NM_152515.4(CKAP2L):c.78_79insTT (p.Gly27Leufs) http://identifiers.org/clinvar/162467 ^@ NM_021949.3(ATP2B3):c.1272_1277delGCTGGT (p.Leu425_Val426del) http://identifiers.org/clinvar/162520 ^@ NM_172362.2(KCNH1):c.1480A>G (p.Ile494Val) http://identifiers.org/clinvar/162607 ^@ NM_020066.4(FMN2):c.1394dupC (p.Ala466Glyfs) http://identifiers.org/clinvar/178375 ^@ NM_013296.4(GPSM2):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/178125 ^@ NM_001035.2(RYR2):c.12114T>C (p.Asp4038=) http://identifiers.org/clinvar/165077 ^@ NM_001035.2(RYR2):c.1197G>A (p.Met399Ile) http://identifiers.org/clinvar/177974 ^@ NM_001035.2(RYR2):c.11880+13_11880+16delACTG http://identifiers.org/clinvar/166474 ^@ NM_206933.2(USH2A):c.7303C>A (p.Pro2435Thr) http://identifiers.org/clinvar/165904 ^@ NM_133378.4(TTN):c.56183G>A (p.Ser18728Asn) http://identifiers.org/clinvar/178575 ^@ NM_206933.2(USH2A):c.11734G>A (p.Glu3912Lys) http://identifiers.org/clinvar/178175 ^@ NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) http://identifiers.org/clinvar/165792 ^@ NM_133378.4(TTN):c.76116C>T (p.Asn25372=) http://identifiers.org/clinvar/166102 ^@ NM_133378.4(TTN):c.30806-1G>A http://identifiers.org/clinvar/178225 ^@ NM_133378.4(TTN):c.29441-4G>A http://identifiers.org/clinvar/166237 ^@ NM_001256850.1(TTN):c.11454delT (p.Asn3818Lysfs) http://identifiers.org/clinvar/178894 ^@ NM_133379.4(TTN):c.15002A>T (p.Lys5001Met) http://identifiers.org/clinvar/166347 ^@ NM_133378.4(TTN):c.1499C>T (p.Thr500Ile) http://identifiers.org/clinvar/166287 ^@ NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg) http://identifiers.org/clinvar/178275 ^@ NM_133378.4(TTN):c.1585G>A (p.Ala529Thr) http://identifiers.org/clinvar/164859 ^@ NM_194248.2(OTOF):c.2676+10G>C http://identifiers.org/clinvar/178693 ^@ NM_032119.3(ADGRV1):c.(?_18153)-15_*(15_?)del http://identifiers.org/clinvar/178743 ^@ NM_001369.2(DNAH5):c.12401C>T (p.Ala4134Val) http://identifiers.org/clinvar/165981 ^@ NM_133378.4(TTN):c.46220C>G (p.Thr15407Ser) http://identifiers.org/clinvar/177923 ^@ NM_002880.3(RAF1):c.-416C>G http://identifiers.org/clinvar/178025 ^@ NM_004415.3(DSP):c.1501G>A (p.Val501Ile) http://identifiers.org/clinvar/178676 ^@ NM_206883.2(SLC26A5):c.89A>G (p.Glu30Gly) http://identifiers.org/clinvar/164634 ^@ NM_004999.3(MYO6):c.826C>T (p.Arg276Ter) http://identifiers.org/clinvar/163105 ^@ NM_001277115.1(DNAH11):c.4904A>G (p.Asp1635Gly) http://identifiers.org/clinvar/163038 ^@ NM_004403.2(DFNA5):c.826T>C (p.Ser276Pro) http://identifiers.org/clinvar/200964 ^@ NM_170707.3(LMNA):c.647G>A (p.Arg216His) http://identifiers.org/clinvar/201607 ^@ NM_003000.2(SDHB):c.718_721delCTAT (p.Leu240Thrfs) http://identifiers.org/clinvar/201211 ^@ NM_001035.2(RYR2):c.1220G>T (p.Arg407Ile) http://identifiers.org/clinvar/201381 ^@ NM_001035.2(RYR2):c.4094C>T (p.Ala1365Val) http://identifiers.org/clinvar/201267 ^@ NM_001035.2(RYR2):c.6883G>A (p.Gly2295Arg) http://identifiers.org/clinvar/201322 ^@ NM_001035.2(RYR2):c.12217G>A (p.Asp4073Asn) http://identifiers.org/clinvar/201548 ^@ NM_198056.2(SCN5A):c.5935A>T (p.Ser1979Cys) http://identifiers.org/clinvar/201491 ^@ NM_198056.2(SCN5A):c.3235T>A (p.Ser1079Thr) http://identifiers.org/clinvar/201436 ^@ NM_198056.2(SCN5A):c.611C>A (p.Ala204Glu) http://identifiers.org/clinvar/200783 ^@ NM_000238.3(KCNH2):c.678delG (p.Ala228Argfs) http://identifiers.org/clinvar/199671 ^@ NM_001613.2(ACTA2):c.446G>T (p.Arg149Leu) http://identifiers.org/clinvar/200848 ^@ NM_000218.2(KCNQ1):c.1426A>G (p.Met476Val) http://identifiers.org/clinvar/200905 ^@ NM_000218.2(KCNQ1):c.1515-2A>G http://identifiers.org/clinvar/201092 ^@ NM_002474.2(MYH11):c.5767G>A (p.Ala1923Thr) http://identifiers.org/clinvar/201039 ^@ NM_002474.2(MYH11):c.5528C>T (p.Ser1843Leu) http://identifiers.org/clinvar/201158 ^@ NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) http://identifiers.org/clinvar/201938 ^@ NM_144573.3(NEXN):c.571delG (p.Asp191Ilefs) http://identifiers.org/clinvar/201719 ^@ NM_001927.3(DES):c.299A>C (p.Glu100Ala) http://identifiers.org/clinvar/202109 ^@ NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) http://identifiers.org/clinvar/202051 ^@ NM_001134363.2(RBM20):c.3317-20C>T http://identifiers.org/clinvar/201881 ^@ NM_032578.3(MYPN):c.845A>G (p.Glu282Gly) http://identifiers.org/clinvar/201662 ^@ NM_014391.2(ANKRD1):c.-34C>T http://identifiers.org/clinvar/201994 ^@ NM_004572.3(PKP2):c.1804A>T (p.Lys602Ter) http://identifiers.org/clinvar/201830 ^@ NM_002230.2(JUP):c.773A>G (p.Glu258Gly) http://identifiers.org/clinvar/201774 ^@ NM_000117.2(EMD):c.559T>C (p.Ser187Pro) http://identifiers.org/clinvar/202168 ^@ NM_015560.2(OPA1):c.1346delC (p.Thr449Lysfs) http://identifiers.org/clinvar/242579 ^@ NM_024306.4(FA2H):c.117C>A (p.Phe39Leu) http://identifiers.org/clinvar/202218 ^@ NC_000004.11:g.(?_16830399)_(17805183_?)dup http://identifiers.org/clinvar/232429 ^@ NM_000038.5(APC):c.5877T>G (p.Thr1959=) http://identifiers.org/clinvar/232830 ^@ NM_005732.3(RAD50):c.33C>T (p.Gly11=) http://identifiers.org/clinvar/233130 ^@ NM_005732.3(RAD50):c.1348C>T (p.Leu450=) http://identifiers.org/clinvar/233480 ^@ NM_000535.6(PMS2):c.567T>C (p.His189=) http://identifiers.org/clinvar/233230 ^@ NM_002485.4(NBN):c.1203C>G (p.Pro401=) http://identifiers.org/clinvar/233580 ^@ NM_002485.4(NBN):c.105T>G (p.Ile35Met) http://identifiers.org/clinvar/232529 ^@ NM_020975.4(RET):c.1445A>G (p.His482Arg) http://identifiers.org/clinvar/232329 ^@ NM_000051.3(ATM):c.3577-3C>A http://identifiers.org/clinvar/233630 ^@ NM_000051.3(ATM):c.9142C>G (p.Leu3048Val) http://identifiers.org/clinvar/232880 ^@ NM_005591.3(MRE11):c.1209A>G (p.Glu403=) http://identifiers.org/clinvar/232580 ^@ NM_000059.3(BRCA2):c.4817C>G (p.Ser1606Cys) http://identifiers.org/clinvar/233430 ^@ NM_000059.3(BRCA2):c.8928C>G (p.Ser2976Arg) http://identifiers.org/clinvar/233330 ^@ NM_000548.4(TSC2):c.753G>A (p.Glu251=) http://identifiers.org/clinvar/232680 ^@ NM_001042492.2(NF1):c.3711T>G (p.Asp1237Glu) http://identifiers.org/clinvar/233530 ^@ NM_001042492.2(NF1):c.4015C>G (p.Leu1339Val) http://identifiers.org/clinvar/233280 ^@ NM_001042492.2(NF1):c.7804A>G (p.Asn2602Asp) http://identifiers.org/clinvar/233080 ^@ NM_007294.3(BRCA1):c.3401A>T (p.Glu1134Val) http://identifiers.org/clinvar/232980 ^@ NM_007294.3(BRCA1):c.2288C>G (p.Ser763Cys) http://identifiers.org/clinvar/232379 ^@ NM_058216.2(RAD51C):c.696A>T (p.Glu232Asp) http://identifiers.org/clinvar/232780 ^@ NM_032043.2(BRIP1):c.2742A>G (p.Leu914=) http://identifiers.org/clinvar/232930 ^@ NM_032043.2(BRIP1):c.386delC (p.Pro129Leufs) http://identifiers.org/clinvar/231829 ^@ NM_005359.5(SMAD4):c.70A>G (p.Met24Val) http://identifiers.org/clinvar/232630 ^@ NM_000455.4(STK11):c.1258G>T (p.Ala420Ser) http://identifiers.org/clinvar/235047 ^@ NM_002880.3(RAF1):c.1334T>G (p.Leu445Arg) http://identifiers.org/clinvar/234997 ^@ NM_000238.3(KCNH2):c.3095_3099dupGGCGG (p.Pro1034Glyfs) http://identifiers.org/clinvar/235097 ^@ NM_033507.1(GCK):c.92T>C (p.Leu31Pro) http://identifiers.org/clinvar/235234 ^@ NM_022068.3(PIEZO2):c.3866C>T (p.Ser1289Phe) http://identifiers.org/clinvar/235288 ^@ NM_001184.3(ATR):c.5739-14_5739-7delGTTACTTC http://identifiers.org/clinvar/235340 ^@ NM_001160372.3(TRAPPC9):c.853C>T (p.Arg285Trp) http://identifiers.org/clinvar/235394 ^@ NC_012920.1:m.3396T>C http://identifiers.org/clinvar/235449 ^@ NM_005236.2(ERCC4):c.89A>C (p.Asp30Ala) http://identifiers.org/clinvar/235501 ^@ NM_020732.3(ARID1B):c.1053_1054insGGC (p.Gly357_Tyr358insGly) http://identifiers.org/clinvar/235554 ^@ NM_004523.3(KIF11):c.3126G>C (p.Leu1042Phe) http://identifiers.org/clinvar/235605 ^@ NM_005199.4(CHRNG):c.1516C>T (p.Pro506Ser) http://identifiers.org/clinvar/235657 ^@ NM_032551.4(KISS1R):c.565G>A (p.Ala189Thr) http://identifiers.org/clinvar/235711 ^@ NM_138694.3(PKHD1):c.9262G>A (p.Asp3088Asn) http://identifiers.org/clinvar/235773 ^@ NM_015979.3(MED23):c.1950-1G>A http://identifiers.org/clinvar/235845 ^@ NM_030665.3(RAI1):c.2332_2336delGGCAT (p.Gly778Glnfs) http://identifiers.org/clinvar/239458 ^@ NM_003001.3(SDHC):c.85C>G (p.Pro29Ala) http://identifiers.org/clinvar/239558 ^@ NM_003738.4(PTCH2):c.2565C>T (p.Leu855=) http://identifiers.org/clinvar/240709 ^@ NM_006922.3(SCN3A):c.3478G>A (p.Glu1160Lys) http://identifiers.org/clinvar/238765 ^@ NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser) http://identifiers.org/clinvar/238715 ^@ NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr) http://identifiers.org/clinvar/241309 ^@ NM_020919.3(ALS2):c.1623C>T (p.His541=) http://identifiers.org/clinvar/237815 ^@ NM_000465.3(BARD1):c.1247T>G (p.Leu416Arg) http://identifiers.org/clinvar/239808 ^@ NM_004304.4(ALK):c.258G>C (p.Glu86Asp) http://identifiers.org/clinvar/237765 ^@ NM_000388.3(CASR):c.2870A>G (p.Gln957Arg) http://identifiers.org/clinvar/242198 ^@ NM_198056.2(SCN5A):c.4641G>T (p.Val1547=) http://identifiers.org/clinvar/240058 ^@ NM_004656.3(BAP1):c.376-4G>A http://identifiers.org/clinvar/238565 ^@ NM_001148.4(ANK2):c.10099T>A (p.Ser3367Thr) http://identifiers.org/clinvar/238615 ^@ NM_001166110.1(PALLD):c.738+5delC http://identifiers.org/clinvar/240359 ^@ NM_006206.4(PDGFRA):c.727G>A (p.Val243Ile) http://identifiers.org/clinvar/240309 ^@ NM_006206.4(PDGFRA):c.1450G>A (p.Val484Met) http://identifiers.org/clinvar/240209 ^@ NM_005732.3(RAD50):c.1245+2C>G http://identifiers.org/clinvar/239508 ^@ NM_003122.4(SPINK1):c.88-23A>T http://identifiers.org/clinvar/239658 ^@ NM_004168.3(SDHA):c.1754G>A (p.Arg585Gln) http://identifiers.org/clinvar/240159 ^@ NM_005431.1(XRCC2):c.225A>G (p.Glu75=) http://identifiers.org/clinvar/242248 ^@ NM_198428.2(BBS9):c.2336T>A (p.Leu779Gln) http://identifiers.org/clinvar/260358 ^@ NM_014208.3(DSPP):c.708T>C (p.Asp236=) http://identifiers.org/clinvar/258518 ^@ NM_001999.3(FBN2):c.4690T>C (p.Leu1564=) http://identifiers.org/clinvar/260808 ^@ NM_017415.2(KLHL3):c.1611G>T (p.Gly537=) http://identifiers.org/clinvar/258068 ^@ NM_001369.2(DNAH5):c.9373+38G>A http://identifiers.org/clinvar/258018 ^@ NM_001369.2(DNAH5):c.3396+24C>T http://identifiers.org/clinvar/256029 ^@ NM_000405.4(GM2A):c.*28C>T http://identifiers.org/clinvar/256079 ^@ NM_000426.3(LAMA2):c.640-26G>A http://identifiers.org/clinvar/260858 ^@ NM_017651.4(AHI1):c.3485+38G>C http://identifiers.org/clinvar/260208 ^@ NM_012160.4(FBXL4):c.1569G>A (p.Gly523=) http://identifiers.org/clinvar/255129 ^@ NM_000108.4(DLD):c.105C>T (p.Tyr35=) http://identifiers.org/clinvar/257918 ^@ NM_001277115.1(DNAH11):c.6273+9A>C http://identifiers.org/clinvar/257868 ^@ NM_001277115.1(DNAH11):c.13128C>G (p.Leu4376=) http://identifiers.org/clinvar/260758 ^@ NM_016616.4(NME8):c.1710C>T (p.Asn570=) http://identifiers.org/clinvar/255429 ^@ NM_000168.5(GLI3):c.2184C>T (p.Leu728=) http://identifiers.org/clinvar/261308 ^@ NM_020476.2(ANK1):c.4008G>A (p.Pro1336=) http://identifiers.org/clinvar/258768 ^@ NM_002485.4(NBN):c.1915-7A>G http://identifiers.org/clinvar/260408 ^@ NM_014425.4(INVS):c.1980A>G (p.Gly660=) http://identifiers.org/clinvar/257518 ^@ NM_001127610.1(BAAT):c.59G>A (p.Arg20Gln) http://identifiers.org/clinvar/259808 ^@ NM_005592.3(MUSK):c.207-20T>C http://identifiers.org/clinvar/260508 ^@ NM_015046.5(SETX):c.498+30T>C http://identifiers.org/clinvar/255079 ^@ NM_000093.4(COL5A1):c.3495G>A (p.Gly1165=) http://identifiers.org/clinvar/255679 ^@ NM_000264.3(PTCH1):c.2892G>A (p.Pro964=) http://identifiers.org/clinvar/257618 ^@ NM_001195263.1(PDZD7):c.928+20delC http://identifiers.org/clinvar/260458 ^@ NM_014915.2(ANKRD26):c.1462+17C>A http://identifiers.org/clinvar/259658 ^@ NM_005188.3(CBL):c.748-21_748-20delTG http://identifiers.org/clinvar/255929 ^@ NM_000352.4(ABCC8):c.2427A>G (p.Pro809=) http://identifiers.org/clinvar/254879 ^@ NM_000076.2(CDKN1C):c.*5+24dupG http://identifiers.org/clinvar/258168 ^@ NM_001604.5(PAX6):c.808-12C>T http://identifiers.org/clinvar/260058 ^@ NM_006876.2(B4GAT1):c.358C>A (p.Leu120Met) http://identifiers.org/clinvar/258568 ^@ NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) http://identifiers.org/clinvar/258818 ^@ NM_002834.4(PTPN11):c.526-33_526-31delCAA http://identifiers.org/clinvar/258218 ^@ NM_001844.4(COL2A1):c.1888-24C>A http://identifiers.org/clinvar/255629 ^@ NM_000257.3(MYH7):c.3853+27T>A http://identifiers.org/clinvar/255379 ^@ NM_000153.3(GALC):c.621+24T>C http://identifiers.org/clinvar/255729 ^@ NM_000275.2(OCA2):c.2208G>A (p.Ser736=) http://identifiers.org/clinvar/332703 ^@ NM_133378.4(TTN):c.93062-10delT http://identifiers.org/clinvar/333153 ^@ NM_014585.5(SLC40A1):c.*1130A>G http://identifiers.org/clinvar/333453 ^@ NM_032977.3(CASP10):c.*741delT http://identifiers.org/clinvar/333203 ^@ NM_000534.4(PMS1):c.315+6G>A http://identifiers.org/clinvar/333553 ^@ NM_001044385.2(TMEM237):c.*987C>T http://identifiers.org/clinvar/333603 ^@ NM_020919.3(ALS2):c.-31T>A http://identifiers.org/clinvar/333253 ^@ NM_007315.3(STAT1):c.*932A>C http://identifiers.org/clinvar/333303 ^@ NM_002156.4(HSPD1):c.*313A>G http://identifiers.org/clinvar/333353 ^@ NM_001006657.1(WDR35):c.*1050T>C http://identifiers.org/clinvar/333403 ^@ NM_001006657.1(WDR35):c.765C>T (p.Tyr255=) http://identifiers.org/clinvar/333803 ^@ NM_014929.3(FASTKD2):c.832G>A (p.Glu278Lys) http://identifiers.org/clinvar/336761 ^@ NM_015910.5(WDPCP):c.1945A>G (p.Met649Val) http://identifiers.org/clinvar/333503 ^@ NM_001228.4(CASP8):c.894C>A (p.Ile298=) http://identifiers.org/clinvar/337111 ^@ NM_006302.2(MOGS):c.699C>T (p.His233=) http://identifiers.org/clinvar/337161 ^@ NM_003849.3(SUCLG1):c.98-10_98-8delAAC http://identifiers.org/clinvar/337211 ^@ NM_000821.6(GGCX):c.*2925G>C http://identifiers.org/clinvar/337361 ^@ NM_022912.2(REEP1):c.*2083delA http://identifiers.org/clinvar/337461 ^@ NM_017849.3(TMEM127):c.*2498C>T http://identifiers.org/clinvar/337561 ^@ NM_014014.4(SNRNP200):c.808C>A (p.Arg270=) http://identifiers.org/clinvar/337611 ^@ NM_020184.3(CNNM4):c.*1517G>A http://identifiers.org/clinvar/336861 ^@ NM_002056.3(GFPT1):c.*666T>C http://identifiers.org/clinvar/337061 ^@ NM_004082.4(DCTN1):c.*251T>G http://identifiers.org/clinvar/342491 ^@ NM_000551.3(VHL):c.*2975G>C http://identifiers.org/clinvar/342741 ^@ NM_000187.3(HGD):c.920G>A (p.Arg307His) http://identifiers.org/clinvar/337411 ^@ NM_004836.6(EIF2AK3):c.1719T>C (p.Asn573=) http://identifiers.org/clinvar/342391 ^@ NM_033084.4(FANCD2):c.*431T>G http://identifiers.org/clinvar/342441 ^@ NM_000551.3(VHL):c.*1619T>C http://identifiers.org/clinvar/342591 ^@ NM_198196.2(CD96):c.*2380C>A http://identifiers.org/clinvar/342791 ^@ NM_001023570.3(IQCB1):c.-215C>T http://identifiers.org/clinvar/342841 ^@ NM_053025.3(MYLK):c.*945G>A http://identifiers.org/clinvar/350670 ^@ NM_032446.2(MEGF10):c.3216G>C (p.Arg1072Ser) http://identifiers.org/clinvar/350820 ^@ NM_003060.3(SLC22A5):c.*92delA http://identifiers.org/clinvar/354746 ^@ NM_020381.3(PDSS2):c.*1782A>G http://identifiers.org/clinvar/354846 ^@ NM_007214.4(SEC63):c.*2504dupT http://identifiers.org/clinvar/354896 ^@ NM_007214.4(SEC63):c.1936-6_1936-5dupTT http://identifiers.org/clinvar/350920 ^@ NM_017415.2(KLHL3):c.*4364A>G http://identifiers.org/clinvar/351220 ^@ NM_001369.2(DNAH5):c.535A>G (p.Thr179Ala) http://identifiers.org/clinvar/355046 ^@ NM_014845.5(FIG4):c.2547-11A>G http://identifiers.org/clinvar/351120 ^@ NM_199189.2(MATR3):c.15C>T (p.Phe5=) http://identifiers.org/clinvar/355147 ^@ NM_002667.4(PLN):c.*891C>T http://identifiers.org/clinvar/351320 ^@ NM_001018077.1(NR3C1):c.*3300G>T http://identifiers.org/clinvar/355547 ^@ NM_000416.2(IFNGR1):c.*297G>A http://identifiers.org/clinvar/352009 ^@ NM_000440.2(PDE6A):c.-11G>T http://identifiers.org/clinvar/352307 ^@ NM_000171.3(GLRA1):c.1214G>A (p.Arg405Gln) http://identifiers.org/clinvar/352257 ^@ NM_000405.4(GM2A):c.*188A>T http://identifiers.org/clinvar/352357 ^@ NM_000337.5(SGCD):c.*1856A>T http://identifiers.org/clinvar/352607 ^@ NM_000806.5(GABRA1):c.*413G>A http://identifiers.org/clinvar/352457 ^@ NM_005546.3(ITK):c.150G>A (p.Thr50=) http://identifiers.org/clinvar/352507 ^@ NM_001099287.1(NIPAL4):c.331A>C (p.Arg111=) http://identifiers.org/clinvar/360435 ^@ NM_000790.3(DDC):c.565G>C (p.Asp189His) http://identifiers.org/clinvar/352807 ^@ NM_001017995.2(SH3PXD2B):c.1712C>T (p.Pro571Leu) http://identifiers.org/clinvar/352857 ^@ NM_002449.4(MSX2):c.*946T>G http://identifiers.org/clinvar/353107 ^@ NM_014244.4(ADAMTS2):c.2291-8A>G http://identifiers.org/clinvar/360735 ^@ NM_001540.3(HSPB1):c.-46C>T http://identifiers.org/clinvar/353007 ^@ NM_006261.4(PROP1):c.*468C>T http://identifiers.org/clinvar/360835 ^@ NM_005751.4(AKAP9):c.6888A>G (p.Gln2296=) http://identifiers.org/clinvar/353257 ^@ NM_014324.5(AMACR):c.-40G>A http://identifiers.org/clinvar/353307 ^@ NM_004172.4(SLC1A3):c.79C>T (p.Leu27Phe) http://identifiers.org/clinvar/360935 ^@ NM_000466.2(PEX1):c.-45T>C http://identifiers.org/clinvar/353207 ^@ NM_004168.3(SDHA):c.*75A>G http://identifiers.org/clinvar/353407 ^@ NM_023073.3(C5orf42):c.*518T>C http://identifiers.org/clinvar/353457 ^@ NM_023073.3(C5orf42):c.2558C>A (p.Ala853Asp) http://identifiers.org/clinvar/353507 ^@ NM_000514.3(GDNF):c.*988A>G http://identifiers.org/clinvar/353557 ^@ NM_002310.5(LIFR):c.*3851T>A http://identifiers.org/clinvar/363884 ^@ NM_019098.4(CNGB3):c.331C>G (p.Pro111Ala) http://identifiers.org/clinvar/361035 ^@ NM_017890.4(VPS13B):c.211T>C (p.Trp71Arg) http://identifiers.org/clinvar/363934 ^@ NM_153704.5(TMEM67):c.*853G>A http://identifiers.org/clinvar/363984 ^@ NM_177965.3(C8orf37):c.*2163T>C http://identifiers.org/clinvar/364034 ^@ NM_001001557.3(GDF6):c.*271_*272insCTC http://identifiers.org/clinvar/306870 ^@ NM_000618.4(IGF1):c.*3392_*3399dupCACACACA http://identifiers.org/clinvar/307070 ^@ NM_052845.3(MMAB):c.*364_*378delTGTGTGTGTGTGTGTinsAGA http://identifiers.org/clinvar/307120 ^@ NM_021625.4(TRPV4):c.*51G>A http://identifiers.org/clinvar/307170 ^@ NM_001681.3(ATP2A2):c.1167T>C (p.Tyr389=) http://identifiers.org/clinvar/307220 ^@ NM_002834.4(PTPN11):c.-273G>A http://identifiers.org/clinvar/307270 ^@ NM_000192.3(TBX5):c.*1373G>T http://identifiers.org/clinvar/307520 ^@ NM_001414.3(EIF2B1):c.*425G>C http://identifiers.org/clinvar/307620 ^@ NM_012463.3(ATP6V0A2):c.*1828C>G http://identifiers.org/clinvar/307720 ^@ NM_000834.3(GRIN2B):c.*891G>T http://identifiers.org/clinvar/307820 ^@ NM_172364.4(CACNA2D4):c.*583G>C http://identifiers.org/clinvar/307870 ^@ NM_172364.4(CACNA2D4):c.318G>A (p.Lys106=) http://identifiers.org/clinvar/364873 ^@ NM_000550.2(TYRP1):c.*908T>C http://identifiers.org/clinvar/307970 ^@ NM_006446.4(SLCO1B1):c.*481T>C http://identifiers.org/clinvar/308020 ^@ NM_002300.7(LDHB):c.621G>T (p.Val207=) http://identifiers.org/clinvar/308070 ^@ NM_004985.4(KRAS):c.*3645A>G http://identifiers.org/clinvar/364973 ^@ NM_002316.3(LMX1B):c.*3404G>A http://identifiers.org/clinvar/365273 ^@ NM_007171.3(POMT1):c.-22C>T http://identifiers.org/clinvar/301726 ^@ NM_016341.3(PLCE1):c.5099T>C (p.Ile1700Thr) http://identifiers.org/clinvar/301776 ^@ NM_002860.3(ALDH18A1):c.453+13delT http://identifiers.org/clinvar/365873 ^@ NM_019892.5(INPP5E):c.*703A>G http://identifiers.org/clinvar/365523 ^@ NM_000368.4(TSC1):c.-174A>T http://identifiers.org/clinvar/301876 ^@ NM_004621.5(TRPC6):c.*1349T>C http://identifiers.org/clinvar/365924 ^@ NM_006412.3(AGPAT2):c.493-3C>T http://identifiers.org/clinvar/365974 ^@ NM_016219.4(MAN1B1):c.1905G>T (p.Ser635=) http://identifiers.org/clinvar/366024 ^@ NM_024757.4(EHMT1):c.3036G>C (p.Arg1012Ser) http://identifiers.org/clinvar/302376 ^@ NM_024740.2(ALG9):c.*2907A>T http://identifiers.org/clinvar/366124 ^@ NM_144966.5(FREM1):c.4244C>G (p.Thr1415Ser) http://identifiers.org/clinvar/366574 ^@ NM_005802.4(TOPORS):c.-28G>C http://identifiers.org/clinvar/302626 ^@ NM_174934.3(SCN4B):c.*986C>G http://identifiers.org/clinvar/340602 ^@ NM_014339.6(IL17RA):c.1685C>A (p.Pro562Gln) http://identifiers.org/clinvar/340652 ^@ NM_014339.6(IL17RA):c.*2175C>A http://identifiers.org/clinvar/312813 ^@ NM_001126106.2(SLC7A7):c.1184T>A (p.Leu395His) http://identifiers.org/clinvar/312963 ^@ NM_001099274.1(TINF2):c.-223C>G http://identifiers.org/clinvar/313013 ^@ NM_004086.2(COCH):c.*612G>T http://identifiers.org/clinvar/313163 ^@ NM_006194.3(PAX9):c.-65G>A http://identifiers.org/clinvar/313263 ^@ NM_002408.3(MGAT2):c.*604_*607delTGAT http://identifiers.org/clinvar/313313 ^@ NM_015915.4(ATL1):c.*475G>A http://identifiers.org/clinvar/323087 ^@ NM_002274.3(KRT13):c.815G>A (p.Arg272His) http://identifiers.org/clinvar/313613 ^@ NM_182914.2(SYNE2):c.15865G>A (p.Val5289Met) http://identifiers.org/clinvar/313713 ^@ NM_000347.5(SPTB):c.5439C>T (p.Ile1813=) http://identifiers.org/clinvar/323287 ^@ NM_000263.3(NAGLU):c.-167G>T http://identifiers.org/clinvar/315752 ^@ NM_152594.2(SPRED1):c.*1563C>T http://identifiers.org/clinvar/367692 ^@ NM_000061.2(BTK):c.*334T>G http://identifiers.org/clinvar/315852 ^@ NM_144508.4(KNL1):c.2323G>T (p.Gly775Cys) http://identifiers.org/clinvar/323637 ^@ NM_005910.5(MAPT):c.-163G>T http://identifiers.org/clinvar/315952 ^@ NM_138477.2(CDAN1):c.773+14G>A http://identifiers.org/clinvar/367942 ^@ NM_004840.2(ARHGEF6):c.*38C>T http://identifiers.org/clinvar/316002 ^@ NM_173500.3(TTBK2):c.-250G>C http://identifiers.org/clinvar/323837 ^@ NM_004287.4(GOSR2):c.*1115G>A http://identifiers.org/clinvar/368042 ^@ NM_000033.3(ABCD1):c.-59C>T http://identifiers.org/clinvar/368092 ^@ NM_000116.4(TAZ):c.*560G>A http://identifiers.org/clinvar/323937 ^@ NM_018129.3(PNPO):c.*1777C>G http://identifiers.org/clinvar/368142 ^@ NM_171998.3(RAB39B):c.*485T>G http://identifiers.org/clinvar/316202 ^@ NM_001482.2(GATM):c.*847G>A http://identifiers.org/clinvar/368192 ^@ NM_014271.3(IL1RAPL1):c.206G>A (p.Ser69Asn) http://identifiers.org/clinvar/324143 ^@ NM_053013.3(ENO3):c.785A>G (p.Lys262Arg) http://identifiers.org/clinvar/316352 ^@ NM_000138.4(FBN1):c.*724A>C http://identifiers.org/clinvar/316402 ^@ NM_014985.3(CEP152):c.*255T>C http://identifiers.org/clinvar/368442 ^@ NM_007137.3(ZNF81):c.*4485G>T http://identifiers.org/clinvar/324194 ^@ NM_015294.4(TRIM37):c.2487G>T (p.Gln829His) http://identifiers.org/clinvar/316502 ^@ NM_182758.3(WDR72):c.*2849G>T http://identifiers.org/clinvar/368542 ^@ NM_006306.3(SMC1A):c.*5915T>C http://identifiers.org/clinvar/368692 ^@ NM_153252.4(BRWD3):c.*5333G>T http://identifiers.org/clinvar/314952 ^@ NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) http://identifiers.org/clinvar/315002 ^@ NM_000295.4(SERPINA1):c.*1287G>A http://identifiers.org/clinvar/315352 ^@ NM_144599.4(NIPA1):c.*3910G>A http://identifiers.org/clinvar/315552 ^@ NM_133647.1(SLC12A6):c.*3388G>C http://identifiers.org/clinvar/317592 ^@ NM_000875.4(IGF1R):c.*4814C>T http://identifiers.org/clinvar/317742 ^@ NM_000246.3(CIITA):c.*587A>G http://identifiers.org/clinvar/315902 ^@ NM_000070.2(CAPN3):c.*436delG http://identifiers.org/clinvar/316052 ^@ NM_201631.3(TGM5):c.960C>T (p.Asn320=) http://identifiers.org/clinvar/316102 ^@ NM_025137.3(SPG11):c.2245-13A>G http://identifiers.org/clinvar/317942 ^@ NM_001287.5(CLCN7):c.2331+14G>A http://identifiers.org/clinvar/371857 ^@ NM_004168.3(SDHA):c.313-19G>T http://identifiers.org/clinvar/371907 ^@ NM_006231.3(POLE):c.5811+16T>C http://identifiers.org/clinvar/372007 ^@ NM_006231.3(POLE):c.1284delC (p.Lys429Argfs) http://identifiers.org/clinvar/371807 ^@ NM_024675.3(PALB2):c.440_442delGAA (p.Arg147del) http://identifiers.org/clinvar/372057 ^@ NM_002878.3(RAD51D):c.263+1596T>C http://identifiers.org/clinvar/371957 ^@ NM_007194.3(CHEK2):c.909delG (p.Met304Trpfs) http://identifiers.org/clinvar/372107 ^@ NP_006403.2:p.Leu107AlafsTer279 http://identifiers.org/clinvar/372170 ^@ NM_012186.2(FOXE3):c.307G>A (p.Glu103Lys) http://identifiers.org/clinvar/372237 ^@ NM_138773.3(SLC25A46):c.166dupC (p.His56Profs) http://identifiers.org/clinvar/372501 ^@ NM_003001.3(SDHC):c.179+1G>C http://identifiers.org/clinvar/372290 ^@ NM_000350.2(ABCA4):c.3210_3211dupGT (p.Ser1071Cysfs) http://identifiers.org/clinvar/372553 ^@ NM_002880.3(RAF1):c.1355C>T (p.Thr452Met) http://identifiers.org/clinvar/373113 ^@ NM_004321.7(KIF1A):c.803G>A (p.Gly268Glu) http://identifiers.org/clinvar/372807 ^@ NM_000204.4(CFI):c.452A>G (p.Asn151Ser) http://identifiers.org/clinvar/372343 ^@ NM_000094.3(COL7A1):c.6176A>G (p.Glu2059Gly) http://identifiers.org/clinvar/372757 ^@ NM_004333.4(BRAF):c.1765A>C (p.Thr589Pro) http://identifiers.org/clinvar/373063 ^@ NM_022455.4(NSD1):c.4825delCinsGA (p.Pro1609Aspfs) http://identifiers.org/clinvar/372394 ^@ NM_000218.2(KCNQ1):c.1732G>A (p.Glu578Lys) http://identifiers.org/clinvar/372603 ^@ NM_003165.3(STXBP1):c.877C>T (p.His293Tyr) http://identifiers.org/clinvar/372444 ^@ NM_000280.4(PAX6):c.949C>T (p.Arg317Ter) http://identifiers.org/clinvar/373163 ^@ NM_020987.4(ANK3):c.10741G>A (p.Asp3581Asn) http://identifiers.org/clinvar/373013 ^@ NM_001080463.1(DYNC2H1):c.4625C>T (p.Ala1542Val) http://identifiers.org/clinvar/372963 ^@ NM_000548.4(TSC2):c.5260-1G>C http://identifiers.org/clinvar/372654 ^@ NM_006086.3(TUBB3):c.763G>A (p.Val255Ile) http://identifiers.org/clinvar/372707 ^@ NM_033517.1(SHANK3):c.3424_3425delCT (p.Leu1142Valfs) http://identifiers.org/clinvar/374105 ^@ NM_000038.5(APC):c.4901delC (p.Pro1634Argfs) http://identifiers.org/clinvar/374155 ^@ NM_004667.5(HERC2):c.6976delC (p.Leu2326Terfs) http://identifiers.org/clinvar/374005 ^@ NM_000455.4(STK11):c.856_858delCTG (p.Leu286del) http://identifiers.org/clinvar/374055 ^@ NM_001166111.1(PNPLA6):c.4075C>T (p.Arg1359Trp) http://identifiers.org/clinvar/374205 ^@ NM_000402.4(G6PD):c.1186A>G (p.Lys396Glu) http://identifiers.org/clinvar/374394 ^@ NM_001165963.1(SCN1A):c.5351T>C (p.Val1784Ala) http://identifiers.org/clinvar/374259 ^@ NM_001170629.1(CHD8):c.2434C>T (p.Arg812Trp) http://identifiers.org/clinvar/374329 ^@ NM_004463.2(FGD1):c.527delC (p.Pro176Hisfs) http://identifiers.org/clinvar/374447 ^@ NM_001277115.1(DNAH11):c.9244A>T (p.Lys3082Ter) http://identifiers.org/clinvar/374497 ^@ NM_000329.2(RPE65):c.130C>T (p.Arg44Ter) http://identifiers.org/clinvar/374547 ^@ NM_000414.3(HSD17B4):c.2179_2183delCAGATinsAAA (p.Gln727Lysfs) http://identifiers.org/clinvar/374597 ^@ NM_004321.7(KIF1A):c.1502delC (p.Pro501Argfs) http://identifiers.org/clinvar/374647 ^@ NM_003737.3(DCHS1):c.7448C>T (p.Thr2483Ile) http://identifiers.org/clinvar/374697 ^@ NM_001031847.2(CPT1A):c.145G>A (p.Gly49Ser) http://identifiers.org/clinvar/374747 ^@ NM_001271.3(CHD2):c.1719G>A (p.Thr573=) http://identifiers.org/clinvar/374807 ^@ NM_004429.4(EFNB1):c.566T>C (p.Val189Ala) http://identifiers.org/clinvar/374857 ^@ NM_007198.3(PLPBP):c.722G>A (p.Arg241Gln) http://identifiers.org/clinvar/374916 ^@ NM_001128608.1(MAPKBP1):c.4393C>T (p.Arg1465Ter) http://identifiers.org/clinvar/374974 ^@ NM_000540.2(RYR1):c.3095G>A (p.Arg1032His) http://identifiers.org/clinvar/375249 ^@ NM_000051.3(ATM):c.1236-2A>T http://identifiers.org/clinvar/375306 ^@ NM_012114.2(CASP14):c.462_463delCA (p.Asp154Glufs) http://identifiers.org/clinvar/375360 ^@ NM_000520.5(HEXA):c.1121A>C (p.Gln374Pro) http://identifiers.org/clinvar/375411 ^@ NM_001164758.1(PRKAR1B):c.149T>G (p.Leu50Arg) http://identifiers.org/clinvar/375472 ^@ NM_019892.5(INPP5E):c.1303C>T (p.Arg435Trp) http://identifiers.org/clinvar/375534 ^@ NM_000833.4(GRIN2A):c.2147C>A (p.Ala716Asp) http://identifiers.org/clinvar/375598 ^@ NM_004752.3(GCM2):c.1136T>A (p.Leu379Gln) http://identifiers.org/clinvar/389592 ^@ NM_133259.3(LRPPRC):c.149+8C>T http://identifiers.org/clinvar/377556 ^@ NM_000465.3(BARD1):c.1704A>G (p.Gly568=) http://identifiers.org/clinvar/391731 ^@ NM_000965.4(RARB):c.148A>G (p.Thr50Ala) http://identifiers.org/clinvar/379906 ^@ NM_006070.5(TFG):c.945G>A (p.Pro315=) http://identifiers.org/clinvar/379305 ^@ NM_053025.3(MYLK):c.2119C>T (p.Gln707Ter) http://identifiers.org/clinvar/382350 ^@ NM_024334.2(TMEM43):c.-2C>T http://identifiers.org/clinvar/379455 ^@ NM_000094.3(COL7A1):c.6109G>A (p.Gly2037Arg) http://identifiers.org/clinvar/391681 ^@ NM_015560.2(OPA1):c.2064G>A (p.Pro688=) http://identifiers.org/clinvar/378158 ^@ NM_000179.2(MSH6):c.-45A>G http://identifiers.org/clinvar/383753 ^@ NM_015120.4(ALMS1):c.1177C>T (p.Arg393Cys) http://identifiers.org/clinvar/380256 ^@ NM_152778.2(MFSD8):c.435A>C (p.Gly145=) http://identifiers.org/clinvar/377906 ^@ NM_000816.3(GABRG2):c.1128+14T>C http://identifiers.org/clinvar/391931 ^@ NM_001182.4(ALDH7A1):c.1150G>A (p.Ala384Thr) http://identifiers.org/clinvar/382851 ^@ NM_000038.5(APC):c.1548+11A>G http://identifiers.org/clinvar/385493 ^@ NM_007255.2(B4GALT7):c.563C>T (p.Pro188Leu) http://identifiers.org/clinvar/382901 ^@ NM_001098511.2(KIF2A):c.195C>A (p.Asp65Glu) http://identifiers.org/clinvar/384203 ^@ NM_013391.3(DMGDH):c.2535A>G (p.Glu845=) http://identifiers.org/clinvar/382199 ^@ NM_000249.3(MLH1):c.380+17T>A http://identifiers.org/clinvar/385443 ^@ NM_004168.3(SDHA):c.*15G>A http://identifiers.org/clinvar/380156 ^@ NM_001167734.1(VARS2):c.1746T>C (p.Val582=) http://identifiers.org/clinvar/385243 ^@ NM_032806.5(POMGNT2):c.*2G>A http://identifiers.org/clinvar/385993 ^@ NM_001069.2(TUBB2A):c.780C>T (p.Phe260=) http://identifiers.org/clinvar/383151 ^@ NM_001148.4(ANK2):c.186+18A>G http://identifiers.org/clinvar/377455 ^@ NM_017651.4(AHI1):c.3196C>T (p.Arg1066Ter) http://identifiers.org/clinvar/377706 ^@ NM_014141.5(CNTNAP2):c.1068A>G (p.Leu356=) http://identifiers.org/clinvar/391781 ^@ NM_058246.3(DNAJB6):c.235+8C>T http://identifiers.org/clinvar/384303 ^@ NM_002291.2(LAMB1):c.2009T>C (p.Val670Ala) http://identifiers.org/clinvar/379155 ^@ NM_000535.6(PMS2):c.250+8G>A http://identifiers.org/clinvar/391831 ^@ NM_003235.4(TG):c.3835C>T (p.Arg1279Trp) http://identifiers.org/clinvar/380056 ^@ NM_002887.3(RARS):c.1236+11A>G http://identifiers.org/clinvar/383051 ^@ NM_006294.4(UQCRB):c.-39T>C http://identifiers.org/clinvar/384503 ^@ NM_000445.4(PLEC):c.2628C>T (p.Ala876=) http://identifiers.org/clinvar/391531 ^@ NM_017617.4(NOTCH1):c.6814C>T (p.Arg2272Cys) http://identifiers.org/clinvar/379755 ^@ NM_006904.6(PRKDC):c.9601C>T (p.Pro3201Ser) http://identifiers.org/clinvar/385593 ^@ NM_002485.4(NBN):c.-48C>G http://identifiers.org/clinvar/391881 ^@ NM_080680.2(COL11A2):c.4015-8T>C http://identifiers.org/clinvar/389042 ^@ NM_020745.3(AARS2):c.2598+11G>A http://identifiers.org/clinvar/379255 ^@ NM_003165.3(STXBP1):c.1689G>A (p.Trp563Ter) http://identifiers.org/clinvar/377806 ^@ NM_004415.3(DSP):c.12C>T (p.Asn4=) http://identifiers.org/clinvar/385393 ^@ NM_006393.2(NEBL):c.2518+14G>A http://identifiers.org/clinvar/133638 ^@ NM_000051.3(ATM):c.8495G>A (p.Arg2832His) http://identifiers.org/clinvar/133688 ^@ NM_001123383.1(BCOR):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/133740 ^@ NM_000059.3(BRCA2):c.9853C>A (p.Pro3285Thr) http://identifiers.org/clinvar/133792 ^@ NM_032415.5(CARD11):c.2119C>T (p.Arg707Cys) http://identifiers.org/clinvar/133842 ^@ NM_024529.4(CDC73):c.412C>A (p.Pro138Thr) http://identifiers.org/clinvar/133892 ^@ NM_007194.3(CHEK2):c.1343T>G (p.Ile448Ser) http://identifiers.org/clinvar/133942 ^@ NM_004380.2(CREBBP):c.1399G>A (p.Ala467Thr) http://identifiers.org/clinvar/133992 ^@ NM_001077706.2(ECT2L):c.1672A>C (p.Ile558Leu) http://identifiers.org/clinvar/134042 ^@ NM_001429.3(EP300):c.376A>G (p.Met126Val) http://identifiers.org/clinvar/134094 ^@ NM_000400.3(ERCC2):c.1628A>C (p.Gln543Pro) http://identifiers.org/clinvar/134144 ^@ NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) http://identifiers.org/clinvar/134194 ^@ NM_000123.3(ERCC5):c.1556G>A (p.Gly519Glu) http://identifiers.org/clinvar/134244 ^@ NM_000135.2(FANCA):c.1501G>A (p.Gly501Ser) http://identifiers.org/clinvar/134295 ^@ NM_000136.2(FANCC):c.1063G>C (p.Asp355His) http://identifiers.org/clinvar/134345 ^@ NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) http://identifiers.org/clinvar/134396 ^@ NM_000142.4(FGFR3):c.299C>G (p.Ser100Cys) http://identifiers.org/clinvar/134446 ^@ NM_004119.2(FLT3):c.580G>A (p.Val194Met) http://identifiers.org/clinvar/134496 ^@ NM_001077490.2(GNAS):c.1275G>A (p.Ser425=) http://identifiers.org/clinvar/134546 ^@ NM_002227.3(JAK1):c.2749A>G (p.Asn917Asp) http://identifiers.org/clinvar/134596 ^@ NM_021140.3(KDM6A):c.1843C>G (p.Leu615Val) http://identifiers.org/clinvar/134647 ^@ NM_001127500.2(MET):c.510C>G (p.Ser170Arg) http://identifiers.org/clinvar/134698 ^@ NM_003482.3(KMT2D):c.6317T>C (p.Ile2106Thr) http://identifiers.org/clinvar/134749 ^@ NM_170606.2(KMT2C):c.4442G>A (p.Arg1481Gln) http://identifiers.org/clinvar/134799 ^@ NM_170606.2(KMT2C):c.11167G>C (p.Ala3723Pro) http://identifiers.org/clinvar/134851 ^@ NM_000179.2(MSH6):c.1063G>A (p.Gly355Ser) http://identifiers.org/clinvar/134903 ^@ NM_006164.4(NFE2L2):c.898C>T (p.Pro300Ser) http://identifiers.org/clinvar/134953 ^@ NM_017617.4(NOTCH1):c.6788G>A (p.Arg2263Gln) http://identifiers.org/clinvar/135602 ^@ NM_002136.3(HNRNPA1):c.853A>G (p.Ser285Gly) http://identifiers.org/clinvar/187029 ^@ NM_001042492.2(NF1):c.7850C>T (p.Ala2617Val) http://identifiers.org/clinvar/185238 ^@ NM_007294.3(BRCA1):c.4929A>C (p.Thr1643=) http://identifiers.org/clinvar/186979 ^@ NM_007294.3(BRCA1):c.4894G>T (p.Val1632Leu) http://identifiers.org/clinvar/187229 ^@ NM_007294.3(BRCA1):c.1163G>C (p.Arg388Thr) http://identifiers.org/clinvar/184888 ^@ NM_007294.3(BRCA1):c.570C>A (p.Thr190=) http://identifiers.org/clinvar/185138 ^@ NM_058216.2(RAD51C):c.141C>T (p.Ser47=) http://identifiers.org/clinvar/185088 ^@ NM_032043.2(BRIP1):c.2723C>T (p.Thr908Ile) http://identifiers.org/clinvar/187079 ^@ NM_032043.2(BRIP1):c.1872G>A (p.Ser624=) http://identifiers.org/clinvar/187679 ^@ NM_032043.2(BRIP1):c.481A>G (p.Ile161Val) http://identifiers.org/clinvar/187379 ^@ NM_032043.2(BRIP1):c.290_293delACAA (p.Asn97Metfs) http://identifiers.org/clinvar/184738 ^@ NM_000455.4(STK11):c.708G>A (p.Val236=) http://identifiers.org/clinvar/184938 ^@ NM_000455.4(STK11):c.1296G>C (p.Gln432His) http://identifiers.org/clinvar/187783 ^@ NM_030813.5(CLPB):c.1233G>A (p.Met411Ile) http://identifiers.org/clinvar/187860 ^@ NM_004092.3(ECHS1):c.414+3G>C http://identifiers.org/clinvar/187912 ^@ NM_004409.4(DMPK):c.*224_*226[1142] http://identifiers.org/clinvar/187962 ^@ NM_004409.4(DMPK):c.*224_*226[347] http://identifiers.org/clinvar/188012 ^@ NM_004409.4(DMPK):c.*224_*226[60] http://identifiers.org/clinvar/188113 ^@ NM_000249.3(MLH1):c.1359G>C (p.Lys453Asn) http://identifiers.org/clinvar/188062 ^@ NM_000059.3(BRCA2):c.3071T>C (p.Ile1024Thr) http://identifiers.org/clinvar/189023 ^@ NM_000478.5(ALPL):c.809G>A (p.Trp270Ter) http://identifiers.org/clinvar/189173 ^@ NM_000187.3(HGD):c.674G>A (p.Arg225His) http://identifiers.org/clinvar/188771 ^@ NM_000277.1(PAH):c.168_168+1delGGinsAA http://identifiers.org/clinvar/188821 ^@ NM_004004.5(GJB2):c.290dupA (p.Tyr97Terfs) http://identifiers.org/clinvar/188972 ^@ NM_133647.1(SLC12A6):c.571_572dupGT (p.Tyr192Serfs) http://identifiers.org/clinvar/188922 ^@ NM_002225.3(IVD):c.158G>C (p.Arg53Pro) http://identifiers.org/clinvar/189123 ^@ NM_007294.3(BRCA1):c.-20+101C>G http://identifiers.org/clinvar/188872 ^@ NM_000159.3(GCDH):c.769C>T (p.Arg257Trp) http://identifiers.org/clinvar/189073 ^@ NM_000487.5(ARSA):c.304delC (p.Leu102Cysfs) http://identifiers.org/clinvar/189240 ^@ NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs) http://identifiers.org/clinvar/189292 ^@ NM_000894.2(LHB):c.28_39delTTGCTGCTGCTG (p.Leu10_Leu13del) http://identifiers.org/clinvar/189352 ^@ NM_004626.2(WNT11):c.947G>A (p.Arg316His) http://identifiers.org/clinvar/189508 ^@ NM_000314.6(PTEN):c.-672T>C http://identifiers.org/clinvar/189441 ^@ NM_000314.6(PTEN):c.987_990delTAAA (p.Asn329Lysfs) http://identifiers.org/clinvar/189613 ^@ NM_005249.4(FOXG1):c.256dupC (p.Gln86Profs) http://identifiers.org/clinvar/189563 ^@ NM_003159.2(CDKL5):c.-162-?_64+?del http://identifiers.org/clinvar/189663 ^@ NM_004992.3(MECP2):c.1159_1458del300 (p.Pro387_Ser486del) http://identifiers.org/clinvar/189713 ^@ NM_004992.3(MECP2):c.616_1122del507 (p.Gly206_Glu374del) http://identifiers.org/clinvar/189763 ^@ NM_001110792.1(MECP2):c.18_23dupCGCCGC (p.Ala8_Pro9insAlaAla) http://identifiers.org/clinvar/189897 ^@ NM_001165963.1(SCN1A):c.5014A>C (p.Asn1672His) http://identifiers.org/clinvar/189947 ^@ NM_001165963.1(SCN1A):c.4223G>A (p.Trp1408Ter) http://identifiers.org/clinvar/189847 ^@ NM_001165963.1(SCN1A):c.3879+1G>T http://identifiers.org/clinvar/189997 ^@ NM_001165963.1(SCN1A):c.602+1G>T http://identifiers.org/clinvar/190118 ^@ NM_002143.2(HPCA):c.225C>A (p.Asn75Lys) http://identifiers.org/clinvar/190182 ^@ NM_001110556.1(FLNA):c.137delA (p.Gln46Argfs) http://identifiers.org/clinvar/190233 ^@ NM_006129.4(BMP1):c.808A>G (p.Met270Val) http://identifiers.org/clinvar/190314 ^@ NM_153816.5(SNX14):c.2596C>T (p.Gln866Ter) http://identifiers.org/clinvar/190366 ^@ NM_001131019.2(GFAP):c.1292_*3delGTTAGCTGinsATC (p.Val431_Met432delinsAspArgGlnAspProProGlyGlyLeuCysProValSer(Val431AspfsTer14)) http://identifiers.org/clinvar/228678 ^@ NM_000503.5(EYA1):c.1460C>T (p.Ser487Leu) http://identifiers.org/clinvar/227738 ^@ NM_006393.2(NEBL):c.489T>C (p.Tyr163=) http://identifiers.org/clinvar/228978 ^@ NM_017433.4(MYO3A):c.1796G>T (p.Ser599Ile) http://identifiers.org/clinvar/227006 ^@ NM_033056.3(PCDH15):c.1917+33_1917+34delGT http://identifiers.org/clinvar/229028 ^@ NM_032578.3(MYPN):c.54G>C (p.Glu18Asp) http://identifiers.org/clinvar/226906 ^@ NM_001277269.1(OTOG):c.724G>A (p.Ala242Thr) http://identifiers.org/clinvar/227788 ^@ NM_001277269.1(OTOG):c.5849C>T (p.Thr1950Met) http://identifiers.org/clinvar/226956 ^@ NM_173591.3(OTOGL):c.5485C>G (p.Leu1829Val) http://identifiers.org/clinvar/227588 ^@ NM_002471.3(MYH6):c.3369G>A (p.Glu1123=) http://identifiers.org/clinvar/229278 ^@ NM_153700.2(STRC):c.3404T>G (p.Leu1135Arg) http://identifiers.org/clinvar/226856 ^@ NM_144672.3(OTOA):c.2431+11T>C http://identifiers.org/clinvar/227638 ^@ NM_016239.3(MYO15A):c.264G>A (p.Thr88=) http://identifiers.org/clinvar/226806 ^@ NM_003803.3(MYOM1):c.1878T>C (p.Ile626=) http://identifiers.org/clinvar/228628 ^@ NM_001943.4(DSG2):c.1280+10_1280+11delAG http://identifiers.org/clinvar/227688 ^@ NM_003803.3(MYOM1):c.1023-14G>A http://identifiers.org/clinvar/228828 ^@ NM_144612.6(LOXHD1):c.4741-11C>G http://identifiers.org/clinvar/226506 ^@ NM_001039213.3(CEACAM16):c.352G>A (p.Glu118Lys) http://identifiers.org/clinvar/228878 ^@ NM_024729.3(MYH14):c.526G>A (p.Ala176Thr) http://identifiers.org/clinvar/229328 ^@ NM_024022.2(TMPRSS3):c.763G>T (p.Ala255Ser) http://identifiers.org/clinvar/226656 ^@ NM_022081.5(HPS4):c.1061C>G (p.Ser354Cys) http://identifiers.org/clinvar/228928 ^@ NM_002473.5(MYH9):c.4247C>T (p.Thr1416Met) http://identifiers.org/clinvar/226556 ^@ NM_000395.2(CSF2RB):c.934G>A (p.Asp312Asn) http://identifiers.org/clinvar/226456 ^@ NM_001614.3(ACTG1):c.124-8C>T http://identifiers.org/clinvar/228778 ^@ NM_002290.4(LAMA4):c.1482T>A (p.Asp494Glu) http://identifiers.org/clinvar/234656 ^@ NM_018136.4(ASPM):c.8966A>G (p.Tyr2989Cys) http://identifiers.org/clinvar/234706 ^@ NM_000179.2(MSH6):c.3947G>C (p.Gly1316Ala) http://identifiers.org/clinvar/234606 ^@ NM_000249.3(MLH1):c.380+3A>G http://identifiers.org/clinvar/234806 ^@ NM_002667.4(PLN):c.34A>G (p.Ile12Val) http://identifiers.org/clinvar/234393 ^@ NM_000535.6(PMS2):c.1556_1559delATGC (p.Tyr519Trpfs) http://identifiers.org/clinvar/234556 ^@ NM_000136.2(FANCC):c.523A>G (p.Met175Val) http://identifiers.org/clinvar/234907 ^@ NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) http://identifiers.org/clinvar/234756 ^@ NM_000059.3(BRCA2):c.7007+4A>G http://identifiers.org/clinvar/234282 ^@ NM_004360.4(CDH1):c.-50C>G http://identifiers.org/clinvar/234454 ^@ NM_004360.4(CDH1):c.610G>A (p.Val204Ile) http://identifiers.org/clinvar/234857 ^@ NM_004360.4(CDH1):c.2416G>A (p.Glu806Lys) http://identifiers.org/clinvar/234334 ^@ NM_014646.2(LPIN2):c.1465A>C (p.Met489Leu) http://identifiers.org/clinvar/234505 ^@ NM_007194.3(CHEK2):c.1232G>A (p.Trp411Ter) http://identifiers.org/clinvar/232479 ^@ NM_001128425.1(MUTYH):c.1218C>G (p.Ser406=) http://identifiers.org/clinvar/233380 ^@ NM_000465.3(BARD1):c.1353A>T (p.Gly451=) http://identifiers.org/clinvar/233180 ^@ NM_000179.2(MSH6):c.2347T>A (p.Cys783Ser) http://identifiers.org/clinvar/233030 ^@ NM_000249.3(MLH1):c.170A>G (p.Lys57Arg) http://identifiers.org/clinvar/232279 ^@ NM_000249.3(MLH1):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/232730 ^@ NM_000249.3(MLH1):c.1330A>C (p.Asn444His) http://identifiers.org/clinvar/264115 ^@ NM_002474.2(MYH11):c.3651+5delT http://identifiers.org/clinvar/264215 ^@ NM_030777.3(SLC2A10):c.144G>A (p.Glu48=) http://identifiers.org/clinvar/264941 ^@ NM_000059.3(BRCA2):c.6842-191del http://identifiers.org/clinvar/264891 ^@ NM_000059.3(BRCA2):c.9257-6010dup http://identifiers.org/clinvar/265197 ^@ NM_006147.3(IRF6):c.576G>A (p.Trp192Ter) http://identifiers.org/clinvar/265301 ^@ NM_001035.2(RYR2):c.13748C>A (p.Ser4583Tyr) http://identifiers.org/clinvar/265146 ^@ NM_000143.3(FH):c.349G>C (p.Ala117Pro) http://identifiers.org/clinvar/265250 ^@ NM_005378.5(MYCN):c.511_551del41 (p.Ala171Argfs) http://identifiers.org/clinvar/265046 ^@ NM_004328.4(BCS1L):c.703G>A (p.Gly235Arg) http://identifiers.org/clinvar/265551 ^@ NM_000038.5(APC):c.3569C>A (p.Ser1190Ter) http://identifiers.org/clinvar/265602 ^@ NM_194456.1(KRIT1):c.802C>T (p.Gln268Ter) http://identifiers.org/clinvar/264993 ^@ NM_015665.5(AAAS):c.1144_1147delTCTG (p.Ser382Argfs) http://identifiers.org/clinvar/265401 ^@ NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) http://identifiers.org/clinvar/265652 ^@ NM_000346.3(SOX9):c.555delG (p.Gln186Argfs) http://identifiers.org/clinvar/265351 ^@ NM_000546.5(TP53):c.322_339del18 (p.Gly108_Phe113del) http://identifiers.org/clinvar/265451 ^@ NM_000455.4(STK11):c.597+1G>T http://identifiers.org/clinvar/265096 ^@ NM_178153.2(DCX):c.706-2A>G http://identifiers.org/clinvar/265501 ^@ NM_000444.5(PHEX):c.850delA (p.Ile284Terfs) http://identifiers.org/clinvar/265702 ^@ NM_000444.5(PHEX):c.1204C>T (p.Gln402Ter) http://identifiers.org/clinvar/265791 ^@ NM_001068.3(TOP2B):c.172C>T (p.His58Tyr) http://identifiers.org/clinvar/265941 ^@ NM_174936.3(PCSK9):c.1181-53T>C http://identifiers.org/clinvar/265891 ^@ NM_000384.2(APOB):c.10602C>A (p.Gly3534=) http://identifiers.org/clinvar/265996 ^@ NM_000350.2(ABCA4):c.1339C>T (p.Gln447Ter) http://identifiers.org/clinvar/266073 ^@ NM_001270894.1(TRAPPC3):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/266123 ^@ NM_001273.3(CHD4):c.4822G>A (p.Val1608Ile) http://identifiers.org/clinvar/267062 ^@ NM_000059.3(BRCA2):c.8272_8273delCTinsTA (p.Leu2758Ter) http://identifiers.org/clinvar/267112 ^@ NM_000059.3(BRCA2):c.8887delT (p.Ser2963Glnfs) http://identifiers.org/clinvar/267162 ^@ NM_000059.3(BRCA2):c.9440dupC (p.Ala3148Cysfs) http://identifiers.org/clinvar/266273 ^@ NM_007294.3(BRCA1):c.2524G>T (p.Glu842Ter) http://identifiers.org/clinvar/266223 ^@ NM_007294.3(BRCA1):c.2135_2136delGT (p.Cys712Phefs) http://identifiers.org/clinvar/266173 ^@ NM_007294.3(BRCA1):c.1529C>A (p.Ser510Ter) http://identifiers.org/clinvar/267232 ^@ NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter) http://identifiers.org/clinvar/267293 ^@ NM_002317.6(LOX):c.800A>C (p.Gln267Pro) http://identifiers.org/clinvar/267379 ^@ c.5908C>T http://identifiers.org/clinvar/267669 ^@ NM_000059.3(BRCA2):c.7007+2T>A http://identifiers.org/clinvar/267719 ^@ NM_000059.3(BRCA2):c.9118-7_9121del http://identifiers.org/clinvar/267569 ^@ NM_007294.3(BRCA1):c.4987delA (p.Met1663Cysfs) http://identifiers.org/clinvar/267619 ^@ NM_007294.3(BRCA1):c.-7620_80+468delins8 http://identifiers.org/clinvar/267798 ^@ 46;XY;t(9;16)(p24;q22)dn http://identifiers.org/clinvar/267849 ^@ 46;XX;(2;11)(p25.1;p15.1)dn http://identifiers.org/clinvar/267899 ^@ 46;XY;t(3;4)(q25.3;q21.3) http://identifiers.org/clinvar/267949 ^@ 46;XY;t(3;6)(q26.2;q16.2)dn http://identifiers.org/clinvar/267999 ^@ 46;XY;t(2;18)(p16.2;q21.1) http://identifiers.org/clinvar/268049 ^@ NM_080675.3(SUN5):c.485T>A (p.Met162Lys) http://identifiers.org/clinvar/268115 ^@ NM_024298.4(MBOAT7):c.820_826delGGCGGCC (p.Gly274Profs) http://identifiers.org/clinvar/268183 ^@ NM_002024.5(FMR1):c.990+1G>A http://identifiers.org/clinvar/279595 ^@ NM_000257.3(MYH7):c.3363G>C (p.Glu1121Asp) http://identifiers.org/clinvar/290902 ^@ NM_017929.5(PEX26):c.540A>G (p.Leu180=) http://identifiers.org/clinvar/290952 ^@ NM_138694.3(PKHD1):c.11844T>C (p.Asn3948=) http://identifiers.org/clinvar/291002 ^@ NM_001171971.2(CDHR1):c.1357A>G (p.Ser453Gly) http://identifiers.org/clinvar/291052 ^@ NM_015102.4(NPHP4):c.2902G>A (p.Ala968Thr) http://identifiers.org/clinvar/291102 ^@ NM_000543.4(SMPD1):c.373C>T (p.Leu125=) http://identifiers.org/clinvar/291152 ^@ NM_002693.2(POLG):c.1269T>A (p.Thr423=) http://identifiers.org/clinvar/291203 ^@ NM_001077269.1(WIPF1):c.51G>A (p.Leu17=) http://identifiers.org/clinvar/291253 ^@ NM_144577.3(CCDC114):c.1111C>A (p.Leu371Met) http://identifiers.org/clinvar/291610 ^@ NM_015074.3(KIF1B):c.*1361A>T http://identifiers.org/clinvar/291810 ^@ NM_006610.3(MASP2):c.234+6G>A http://identifiers.org/clinvar/291910 ^@ NM_013319.2(UBIAD1):c.*2187G>A http://identifiers.org/clinvar/291860 ^@ NM_003051.3(SLC16A1):c.983G>T (p.Arg328Leu) http://identifiers.org/clinvar/291660 ^@ NM_015074.3(KIF1B):c.*4279dupT http://identifiers.org/clinvar/292060 ^@ NM_138959.2(VANGL1):c.*2992G>A http://identifiers.org/clinvar/291760 ^@ NM_007375.3(TARDBP):c.*2046T>G http://identifiers.org/clinvar/291960 ^@ NM_002524.4(NRAS):c.*2327C>T http://identifiers.org/clinvar/292010 ^@ NM_138959.2(VANGL1):c.914A>T (p.His305Leu) http://identifiers.org/clinvar/292110 ^@ NM_138959.2(VANGL1):c.*6602C>T http://identifiers.org/clinvar/293049 ^@ NM_003126.2(SPTA1):c.775G>A (p.Ala259Thr) http://identifiers.org/clinvar/293099 ^@ NM_002241.4(KCNJ10):c.*1839C>T http://identifiers.org/clinvar/293149 ^@ NM_000702.3(ATP1A2):c.*648A>G http://identifiers.org/clinvar/292799 ^@ NM_000298.5(PKLR):c.*346_*348delAGG http://identifiers.org/clinvar/293399 ^@ NM_004431.4(EPHA2):c.*355A>G http://identifiers.org/clinvar/293349 ^@ NM_003001.3(SDHC):c.*1379C>T http://identifiers.org/clinvar/293449 ^@ NM_004431.4(EPHA2):c.124G>A (p.Gly42Ser) http://identifiers.org/clinvar/293499 ^@ NM_005149.2(TBX19):c.*1155C>G http://identifiers.org/clinvar/293549 ^@ NM_000130.4(F5):c.*1432C>T http://identifiers.org/clinvar/293849 ^@ NM_014625.3(NPHS2):c.483C>A (p.Thr161=) http://identifiers.org/clinvar/292899 ^@ NM_001012331.1(NTRK1):c.2337C>T (p.Ala779=) http://identifiers.org/clinvar/292849 ^@ NM_022367.3(SEMA4A):c.1086A>C (p.Ser362=) http://identifiers.org/clinvar/292999 ^@ NM_003126.2(SPTA1):c.3167G>T (p.Arg1056Leu) http://identifiers.org/clinvar/292949 ^@ NM_003126.2(SPTA1):c.6789-8delT http://identifiers.org/clinvar/293949 ^@ NM_002065.6(GLUL):c.195T>C (p.Ser65=) http://identifiers.org/clinvar/293199 ^@ NM_002857.3(PEX19):c.*2057T>G http://identifiers.org/clinvar/293249 ^@ NM_000309.3(PPOX):c.338+9A>G http://identifiers.org/clinvar/293299 ^@ NM_000530.7(MPZ):c.*1048A>T http://identifiers.org/clinvar/293599 ^@ NM_000130.4(F5):c.4210C>T (p.Pro1404Ser) http://identifiers.org/clinvar/293799 ^@ NM_022089.3(ATP13A2):c.1128C>T (p.Cys376=) http://identifiers.org/clinvar/293649 ^@ NM_152281.2(GORAB):c.137-3T>C http://identifiers.org/clinvar/293699 ^@ NM_006894.5(FMO3):c.*52G>A http://identifiers.org/clinvar/293749 ^@ NM_000639.2(FASLG):c.*627_*632dupGTGTGT http://identifiers.org/clinvar/293899 ^@ NM_002065.6(GLUL):c.*1932T>G http://identifiers.org/clinvar/344230 ^@ NM_031955.5(SPATA16):c.-121G>A http://identifiers.org/clinvar/344380 ^@ NM_003722.4(TP63):c.303G>A (p.Ser101=) http://identifiers.org/clinvar/344730 ^@ NM_015141.3(GPD1L):c.*18G>T http://identifiers.org/clinvar/336661 ^@ NM_002618.3(PEX13):c.-12G>A http://identifiers.org/clinvar/344830 ^@ NM_006371.4(CRTAP):c.*1032delT http://identifiers.org/clinvar/336354 ^@ NM_139279.5(MCFD2):c.*1525C>G http://identifiers.org/clinvar/336711 ^@ NM_032180.2(FAM161A):c.*1368A>C http://identifiers.org/clinvar/336811 ^@ NM_002056.3(GFPT1):c.*3781G>T http://identifiers.org/clinvar/345080 ^@ NM_198056.2(SCN5A):c.*1165C>T http://identifiers.org/clinvar/336911 ^@ NM_001004311.3(FIGLA):c.248G>A (p.Arg83His) http://identifiers.org/clinvar/345180 ^@ NM_018075.4(ANO10):c.1595C>T (p.Ser532Leu) http://identifiers.org/clinvar/336961 ^@ NM_003494.3(DYSF):c.2735A>G (p.Lys912Arg) http://identifiers.org/clinvar/344430 ^@ NM_003722.4(TP63):c.*2318G>A http://identifiers.org/clinvar/344780 ^@ NM_000404.3(GLB1):c.*194C>A http://identifiers.org/clinvar/337011 ^@ NM_015120.4(ALMS1):c.1707A>C (p.Pro569=) http://identifiers.org/clinvar/344880 ^@ NM_006371.4(CRTAP):c.*4140_*4142delTAC http://identifiers.org/clinvar/344930 ^@ NM_001106.3(ACVR2B):c.*420A>G http://identifiers.org/clinvar/345030 ^@ NM_001106.3(ACVR2B):c.*8334delG http://identifiers.org/clinvar/337261 ^@ NM_000821.6(GGCX):c.1889-17_1889-16delTT http://identifiers.org/clinvar/345130 ^@ NM_198056.2(SCN5A):c.-53+12C>T http://identifiers.org/clinvar/337311 ^@ NM_198843.2(SFTPB):c.172G>T (p.Ala58Ser) http://identifiers.org/clinvar/337511 ^@ NM_017849.3(TMEM127):c.-131-7C>T http://identifiers.org/clinvar/345230 ^@ NM_016006.4(ABHD5):c.*302T>A http://identifiers.org/clinvar/345380 ^@ NM_020208.3(SLC6A20):c.*1066delT http://identifiers.org/clinvar/337661 ^@ NM_001298.2(CNGA3):c.983T>C (p.Ile328Thr) http://identifiers.org/clinvar/342291 ^@ NM_016247.3(IMPG2):c.*2622A>G http://identifiers.org/clinvar/342341 ^@ NM_016247.3(IMPG2):c.2803-14T>G http://identifiers.org/clinvar/342541 ^@ NM_198196.2(CD96):c.1299C>A (p.Pro433=) http://identifiers.org/clinvar/342691 ^@ NM_020754.3(ARHGAP31):c.*1156C>G http://identifiers.org/clinvar/342641 ^@ NM_020754.3(ARHGAP31):c.1184A>G (p.Glu395Gly) http://identifiers.org/clinvar/343191 ^@ NM_014049.4(ACAD9):c.44G>C (p.Arg15Pro) http://identifiers.org/clinvar/348179 ^@ NM_000860.5(HPGD):c.*1203A>C http://identifiers.org/clinvar/354196 ^@ NM_003719.3(PDE8B):c.*741A>T http://identifiers.org/clinvar/354446 ^@ NM_004385.4(VCAN):c.7638C>T (p.Asp2546=) http://identifiers.org/clinvar/354296 ^@ NM_000046.3(ARSB):c.*635C>G http://identifiers.org/clinvar/354596 ^@ NM_002397.4(MEF2C):c.-410A>G http://identifiers.org/clinvar/362834 ^@ NM_000349.2(STAR):c.*913C>T http://identifiers.org/clinvar/354546 ^@ NM_002397.4(MEF2C):c.*4149A>G http://identifiers.org/clinvar/354646 ^@ NM_000439.4(PCSK1):c.1197-9C>T http://identifiers.org/clinvar/362984 ^@ NM_000037.3(ANK1):c.5008G>A (p.Val1670Met) http://identifiers.org/clinvar/363184 ^@ NM_152419.2(HGSNAT):c.*2643G>A http://identifiers.org/clinvar/354796 ^@ NM_001242957.2(MAK):c.1144-10T>C http://identifiers.org/clinvar/354946 ^@ NM_014028.3(OSTM1):c.*2301A>G http://identifiers.org/clinvar/354996 ^@ NM_004752.3(GCM2):c.*717C>T http://identifiers.org/clinvar/363434 ^@ NM_017780.3(CHD7):c.-380C>T http://identifiers.org/clinvar/355097 ^@ NM_000493.3(COL10A1):c.1181C>G (p.Pro394Arg) http://identifiers.org/clinvar/355197 ^@ NM_006073.3(TRDN):c.*1482C>T http://identifiers.org/clinvar/355447 ^@ NM_172105.3(EYA4):c.1338A>G (p.Leu446=) http://identifiers.org/clinvar/363784 ^@ NM_000318.2(PEX2):c.*1909G>T http://identifiers.org/clinvar/355247 ^@ NM_000426.3(LAMA2):c.1169G>C (p.Cys390Ser) http://identifiers.org/clinvar/363834 ^@ NM_000067.2(CA2):c.508-7G>A http://identifiers.org/clinvar/355297 ^@ NM_000426.3(LAMA2):c.7479C>T (p.Ser2493=) http://identifiers.org/clinvar/355497 ^@ NM_017651.4(AHI1):c.2962-3T>C http://identifiers.org/clinvar/360285 ^@ NM_000162.3(GCK):c.*764C>T http://identifiers.org/clinvar/364823 ^@ NM_000177.4(GSN):c.1816G>A (p.Val606Met) http://identifiers.org/clinvar/360635 ^@ NM_000501.3(ELN):c.259T>C (p.Phe87Leu) http://identifiers.org/clinvar/364923 ^@ NM_002316.3(LMX1B):c.*1437_*1441delTGTTT http://identifiers.org/clinvar/365023 ^@ NM_138361.5(LRSAM1):c.1011C>T (p.Ser337=) http://identifiers.org/clinvar/360785 ^@ NM_000601.5(HGF):c.88+9C>T http://identifiers.org/clinvar/365173 ^@ NM_001130438.2(SPTAN1):c.5724C>T (p.Ala1908=) http://identifiers.org/clinvar/360885 ^@ NM_194456.1(KRIT1):c.1146+8A>T http://identifiers.org/clinvar/365223 ^@ NM_000113.2(TOR1A):c.*416T>G http://identifiers.org/clinvar/365373 ^@ NM_015046.5(SETX):c.1358A>G (p.Lys453Arg) http://identifiers.org/clinvar/365423 ^@ NM_000368.4(TSC1):c.*3284C>A http://identifiers.org/clinvar/365573 ^@ NM_014694.3(ADAMTSL2):c.279G>A (p.Thr93=) http://identifiers.org/clinvar/361335 ^@ NM_178857.5(RP1L1):c.2751G>A (p.Ala917=) http://identifiers.org/clinvar/365673 ^@ NM_000787.3(DBH):c.1734C>T (p.Asn578=) http://identifiers.org/clinvar/365723 ^@ NM_000093.4(COL5A1):c.3897C>T (p.Gly1299=) http://identifiers.org/clinvar/365823 ^@ NM_014564.4(LHX3):c.73C>A (p.Arg25=) http://identifiers.org/clinvar/357036 ^@ NM_020745.3(AARS2):c.*1252A>C http://identifiers.org/clinvar/366624 ^@ NM_001497.3(B4GALT1):c.*1664A>G http://identifiers.org/clinvar/311324 ^@ NM_021954.3(GJA3):c.*420_*434delTTAGCTCTGGGCCAGinsATAGA http://identifiers.org/clinvar/367442 ^@ NM_033305.2(VPS13A):c.*565G>A http://identifiers.org/clinvar/303515 ^@ NM_016952.4(CDON):c.1654A>G (p.Ser552Gly) http://identifiers.org/clinvar/367642 ^@ NM_000264.3(PTCH1):c.*1616A>C http://identifiers.org/clinvar/311874 ^@ NM_001127217.2(SMAD9):c.*669_*670delAG http://identifiers.org/clinvar/364084 ^@ NM_000380.3(XPA):c.*234_*235delCA http://identifiers.org/clinvar/303865 ^@ NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) http://identifiers.org/clinvar/303965 ^@ NM_006757.3(TNNT3):c.-182C>G http://identifiers.org/clinvar/304265 ^@ NM_000218.2(KCNQ1):c.*892_*894delAAT http://identifiers.org/clinvar/298787 ^@ NM_001134363.2(RBM20):c.717A>T (p.Thr239=) http://identifiers.org/clinvar/304515 ^@ NM_000448.2(RAG1):c.*589G>A http://identifiers.org/clinvar/298987 ^@ NM_000141.4(FGFR2):c.*497T>C http://identifiers.org/clinvar/299037 ^@ NM_001099667.1(ARMS2):c.*251T>C http://identifiers.org/clinvar/313213 ^@ NM_020937.3(FANCM):c.3998A>C (p.Gln1333Pro) http://identifiers.org/clinvar/299137 ^@ NM_001609.3(ACADSB):c.*2686G>C http://identifiers.org/clinvar/304715 ^@ NM_021926.3(ALX4):c.104G>C (p.Arg35Thr) http://identifiers.org/clinvar/313413 ^@ NM_172337.2(OTX2):c.*572_*573delGT http://identifiers.org/clinvar/298887 ^@ NM_007373.3(SHOC2):c.*1575A>G http://identifiers.org/clinvar/313463 ^@ NM_005982.3(SIX1):c.*161C>A http://identifiers.org/clinvar/298937 ^@ NM_004132.4(HABP2):c.*859A>G http://identifiers.org/clinvar/299387 ^@ NM_001081.3(CUBN):c.9030T>C (p.Ala3010=) http://identifiers.org/clinvar/313563 ^@ NM_182914.2(SYNE2):c.11993C>T (p.Thr3998Ile) http://identifiers.org/clinvar/299487 ^@ NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) http://identifiers.org/clinvar/313813 ^@ NM_002382.4(MAX):c.*170C>T http://identifiers.org/clinvar/299087 ^@ NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) http://identifiers.org/clinvar/313913 ^@ NM_015346.3(ZFYVE26):c.2401+11T>A http://identifiers.org/clinvar/299587 ^@ NM_201590.2(CACNB2):c.*571_*573dupGTT http://identifiers.org/clinvar/299637 ^@ NM_017433.4(MYO3A):c.-215A>G http://identifiers.org/clinvar/299737 ^@ NM_014915.2(ANKRD26):c.2974C>T (p.Leu992=) http://identifiers.org/clinvar/299287 ^@ NM_001033855.2(DCLRE1C):c.*792A>C http://identifiers.org/clinvar/299887 ^@ NM_020975.4(RET):c.337+12G>A http://identifiers.org/clinvar/299937 ^@ NM_020975.4(RET):c.*1591G>A http://identifiers.org/clinvar/314802 ^@ NM_198309.3(TTC8):c.1352C>T (p.Ala451Val) http://identifiers.org/clinvar/314852 ^@ NM_018319.3(TDP1):c.*945C>T http://identifiers.org/clinvar/299687 ^@ NM_017433.4(MYO3A):c.*399delT http://identifiers.org/clinvar/314902 ^@ NM_004239.4(TRIP11):c.*952A>T http://identifiers.org/clinvar/299787 ^@ NM_032844.4(MASTL):c.346G>A (p.Gly116Arg) http://identifiers.org/clinvar/315302 ^@ NM_139057.3(ADAMTS17):c.1062G>A (p.Pro354=) http://identifiers.org/clinvar/315502 ^@ NM_002420.5(TRPM1):c.3558T>C (p.Ser1186=) http://identifiers.org/clinvar/315702 ^@ NM_005159.4(ACTC1):c.1053G>C (p.Leu351=) http://identifiers.org/clinvar/317642 ^@ NM_000875.4(IGF1R):c.*6568A>C http://identifiers.org/clinvar/317792 ^@ NM_004862.3(LITAF):c.-152A>G http://identifiers.org/clinvar/311224 ^@ NM_000131.4(F7):c.682-11C>A http://identifiers.org/clinvar/317892 ^@ NM_032520.4(GNPTG):c.781G>A (p.Gly261Ser) http://identifiers.org/clinvar/311274 ^@ NM_000504.3(F10):c.399C>T (p.Asn133=) http://identifiers.org/clinvar/329475 ^@ NM_212550.4(BLOC1S3):c.311C>G (p.Pro104Arg) http://identifiers.org/clinvar/311374 ^@ NM_006783.4(GJB6):c.*628G>T http://identifiers.org/clinvar/311424 ^@ NM_002010.2(FGF9):c.447A>G (p.Ser149=) http://identifiers.org/clinvar/318194 ^@ NM_014714.3(IFT140):c.1155+15G>A http://identifiers.org/clinvar/311724 ^@ NM_004795.3(KL):c.*1286A>G http://identifiers.org/clinvar/318594 ^@ NM_001089.2(ABCA3):c.-397C>T http://identifiers.org/clinvar/318444 ^@ NM_000336.2(SCNN1B):c.1764T>C (p.Phe588=) http://identifiers.org/clinvar/330514 ^@ NM_006702.4(PNPLA6):c.242C>T (p.Ala81Val) http://identifiers.org/clinvar/330614 ^@ NM_030957.3(ADAMTS10):c.-60G>A http://identifiers.org/clinvar/337711 ^@ NM_018848.3(MKKS):c.-781delG http://identifiers.org/clinvar/312863 ^@ NM_002471.3(MYH6):c.3500A>C (p.Lys1167Thr) http://identifiers.org/clinvar/313113 ^@ NM_020529.2(NFKBIA):c.547+10C>T http://identifiers.org/clinvar/311774 ^@ NM_015087.4(SPG20):c.-145G>A http://identifiers.org/clinvar/320584 ^@ NM_021615.4(CHST6):c.*972C>A http://identifiers.org/clinvar/313363 ^@ NM_000161.2(GCH1):c.*1473A>G http://identifiers.org/clinvar/320684 ^@ NM_022041.3(GAN):c.*1002T>A http://identifiers.org/clinvar/320784 ^@ NM_178452.5(DNAAF1):c.*67T>C http://identifiers.org/clinvar/321084 ^@ NM_020686.5(ABAT):c.1123-15C>T http://identifiers.org/clinvar/321034 ^@ NM_001127464.2(ZNF469):c.11772C>T (p.Ser3924=) http://identifiers.org/clinvar/321234 ^@ NM_000303.2(PMM2):c.*276C>G http://identifiers.org/clinvar/339751 ^@ NM_000219.5(KCNE1):c.*1219A>G http://identifiers.org/clinvar/321334 ^@ NM_000135.2(FANCA):c.3701T>C (p.Ile1234Thr) http://identifiers.org/clinvar/321434 ^@ NM_002386.3(MC1R):c.628A>C (p.Met210Leu) http://identifiers.org/clinvar/328275 ^@ NM_000528.3(MAN2B1):c.855C>T (p.Pro285=) http://identifiers.org/clinvar/326486 ^@ NM_001943.4(DSG2):c.2744G>C (p.Arg915Thr) http://identifiers.org/clinvar/326536 ^@ NM_001943.4(DSG2):c.*1714_*1715dupGT http://identifiers.org/clinvar/328575 ^@ NM_005535.2(IL12RB1):c.1914T>C (p.Pro638=) http://identifiers.org/clinvar/328725 ^@ NM_001031726.3(C19orf12):c.*137G>A http://identifiers.org/clinvar/327086 ^@ NM_001080467.2(MYO5B):c.455+8T>C http://identifiers.org/clinvar/368342 ^@ NM_003334.3(UBA1):c.2220G>A (p.Pro740=) http://identifiers.org/clinvar/329125 ^@ NM_000540.2(RYR1):c.13342C>T (p.Pro4448Ser) http://identifiers.org/clinvar/329625 ^@ NM_025136.3(OPA3):c.*3360G>A http://identifiers.org/clinvar/327925 ^@ NM_001130823.2(DNMT1):c.393C>T (p.Pro131=) http://identifiers.org/clinvar/328075 ^@ NM_000527.4(LDLR):c.*808T>G http://identifiers.org/clinvar/328425 ^@ NM_173483.3(CYP4F22):c.222+15G>A http://identifiers.org/clinvar/328475 ^@ NM_000215.3(JAK3):c.*1094G>C http://identifiers.org/clinvar/330464 ^@ NM_000208.3(INSR):c.2268-3C>T http://identifiers.org/clinvar/328525 ^@ NM_000215.3(JAK3):c.-36A>G http://identifiers.org/clinvar/330564 ^@ NM_006949.3(STXBP2):c.1723C>T (p.Arg575Cys) http://identifiers.org/clinvar/337811 ^@ NM_024411.4(PDYN):c.*1238A>T http://identifiers.org/clinvar/337861 ^@ NM_000361.2(THBD):c.*1153A>G http://identifiers.org/clinvar/337911 ^@ NM_198994.2(TGM6):c.789G>A (p.Lys263=) http://identifiers.org/clinvar/329025 ^@ NM_000540.2(RYR1):c.4306G>A (p.Val1436Met) http://identifiers.org/clinvar/329525 ^@ NM_000400.3(ERCC2):c.718+6G>T http://identifiers.org/clinvar/339501 ^@ NM_015192.3(PLCB1):c.890G>A (p.Arg297His) http://identifiers.org/clinvar/339851 ^@ NM_001754.4(RUNX1):c.*1012C>T http://identifiers.org/clinvar/337761 ^@ NM_000214.2(JAG1):c.133G>T (p.Val45Leu) http://identifiers.org/clinvar/340201 ^@ NM_130445.3(COL18A1):c.693G>A (p.Val231=) http://identifiers.org/clinvar/340351 ^@ NM_001848.2(COL6A1):c.*754C>T http://identifiers.org/clinvar/340702 ^@ NM_014339.6(IL17RA):c.*4004C>T http://identifiers.org/clinvar/339401 ^@ NM_025219.2(DNAJC5):c.*1895C>G http://identifiers.org/clinvar/341491 ^@ NM_002473.5(MYH9):c.5765+9C>T http://identifiers.org/clinvar/339601 ^@ NM_000933.3(PLCB4):c.*345C>T http://identifiers.org/clinvar/341541 ^@ NM_002473.5(MYH9):c.-182G>T http://identifiers.org/clinvar/339701 ^@ NM_000628.4(IL10RB):c.*334G>A http://identifiers.org/clinvar/341691 ^@ NM_022098.3(XPNPEP3):c.*1205C>T http://identifiers.org/clinvar/341791 ^@ NM_001429.3(EP300):c.2131+13A>T http://identifiers.org/clinvar/339901 ^@ NM_144492.2(CLDN14):c.-454G>C http://identifiers.org/clinvar/339951 ^@ NM_000411.6(HLCS):c.*547C>T http://identifiers.org/clinvar/341891 ^@ NM_000262.2(NAGA):c.*1333T>C http://identifiers.org/clinvar/342041 ^@ NM_024105.3(ALG12):c.1363G>A (p.Val455Met) http://identifiers.org/clinvar/383101 ^@ NM_000368.4(TSC1):c.-11C>T http://identifiers.org/clinvar/388492 ^@ NM_032578.3(MYPN):c.2736G>A (p.Leu912=) http://identifiers.org/clinvar/377956 ^@ NM_000238.3(KCNH2):c.1800C>T (p.Ser600=) http://identifiers.org/clinvar/380006 ^@ NM_213649.1(SFXN4):c.258A>G (p.Gln86=) http://identifiers.org/clinvar/386043 ^@ NM_000256.3(MYBPC3):c.3108C>A (p.Arg1036=) http://identifiers.org/clinvar/386143 ^@ NM_032667.6(BSCL2):c.-63G>C http://identifiers.org/clinvar/379505 ^@ NM_000543.4(SMPD1):c.1264-1G>A http://identifiers.org/clinvar/379805 ^@ NM_001134363.2(RBM20):c.3573+16C>T http://identifiers.org/clinvar/382651 ^@ NM_006231.3(POLE):c.6699T>C (p.Pro2233=) http://identifiers.org/clinvar/391231 ^@ NM_006231.3(POLE):c.2610C>T (p.Asn870=) http://identifiers.org/clinvar/392231 ^@ NM_001909.4(CTSD):c.817C>T (p.His273Tyr) http://identifiers.org/clinvar/389142 ^@ NM_004517.3(ILK):c.255+4C>T http://identifiers.org/clinvar/391481 ^@ NM_152264.4(SLC39A13):c.571G>A (p.Ala191Thr) http://identifiers.org/clinvar/385943 ^@ NM_000059.3(BRCA2):c.7986G>A (p.Thr2662=) http://identifiers.org/clinvar/390142 ^@ NM_000059.3(BRCA2):c.8481T>A (p.Pro2827=) http://identifiers.org/clinvar/391381 ^@ NM_014252.3(SLC25A15):c.789G>A (p.Thr263=) http://identifiers.org/clinvar/392131 ^@ NM_000053.3(ATP7B):c.1839C>T (p.Ile613=) http://identifiers.org/clinvar/385543 ^@ NM_004982.3(KCNJ8):c.54C>T (p.Ala18=) http://identifiers.org/clinvar/385793 ^@ NM_020297.3(ABCC9):c.3739T>C (p.Leu1247=) http://identifiers.org/clinvar/385293 ^@ NM_006231.3(POLE):c.1371G>A (p.Thr457=) http://identifiers.org/clinvar/380306 ^@ NM_000719.6(CACNA1C):c.3946-45C>A http://identifiers.org/clinvar/389542 ^@ NM_004281.3(BAG3):c.569C>T (p.Ser190Phe) http://identifiers.org/clinvar/383552 ^@ NM_000059.3(BRCA2):c.3078G>A (p.Lys1026=) http://identifiers.org/clinvar/379655 ^@ NM_000138.4(FBN1):c.6794G>A (p.Cys2265Tyr) http://identifiers.org/clinvar/385643 ^@ NM_000314.6(PTEN):c.528T>C (p.Tyr176=) http://identifiers.org/clinvar/380356 ^@ NM_002755.3(MAP2K1):c.1005A>G (p.Gln335=) http://identifiers.org/clinvar/377506 ^@ NM_000051.3(ATM):c.2376+20G>C http://identifiers.org/clinvar/392181 ^@ NM_004563.3(PCK2):c.1401C>G (p.Asn467Lys) http://identifiers.org/clinvar/378308 ^@ NM_025152.2(NUBPL):c.608-16G>A http://identifiers.org/clinvar/377756 ^@ NM_003476.4(CSRP3):c.-46C>T http://identifiers.org/clinvar/391331 ^@ NM_005249.4(FOXG1):c.1158C>G (p.Ala386=) http://identifiers.org/clinvar/391281 ^@ NM_001018005.1(TPM1):c.240+11G>A http://identifiers.org/clinvar/378258 ^@ NM_002496.3(NDUFS8):c.255G>A (p.Pro85=) http://identifiers.org/clinvar/383502 ^@ NM_002755.3(MAP2K1):c.439-19C>A http://identifiers.org/clinvar/389492 ^@ NM_002180.2(IGHMBP2):c.2139C>T (p.Asn713=) http://identifiers.org/clinvar/390192 ^@ NM_004239.4(TRIP11):c.492T>C (p.Phe164=) http://identifiers.org/clinvar/383602 ^@ NM_000814.5(GABRB3):c.80+11G>A http://identifiers.org/clinvar/388992 ^@ NM_001171.5(ABCC6):c.955A>G (p.Ile319Val) http://identifiers.org/clinvar/382400 ^@ NM_174917.4(ACSF3):c.1367-6C>T http://identifiers.org/clinvar/384053 ^@ NM_006231.3(POLE):c.1197G>A (p.Ala399=) http://identifiers.org/clinvar/47458 ^@ NM_001267550.2(TTN):c.86821+2T>A http://identifiers.org/clinvar/47508 ^@ NM_133378.4(TTN):c.83721C>T (p.Asp27907=) http://identifiers.org/clinvar/47558 ^@ NM_133378.4(TTN):c.87849C>T (p.Ser29283=) http://identifiers.org/clinvar/47608 ^@ NM_001256850.1(TTN):c.93803T>C (p.Val31268Ala) http://identifiers.org/clinvar/47658 ^@ NM_001256850.1(TTN):c.98369C>T (p.Thr32790Met) http://identifiers.org/clinvar/47708 ^@ NM_001256850.1(TTN):c.101655T>A (p.Ser33885=) http://identifiers.org/clinvar/56 ^@ NM_001194998.1(CEP152):c.2959C>T (p.Arg987Ter) http://identifiers.org/clinvar/336 ^@ NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) http://identifiers.org/clinvar/523 ^@ NM_001999.3(FBN2):c.3725-15A>G http://identifiers.org/clinvar/782 ^@ ISCU, IVS5, G-C, +382 http://identifiers.org/clinvar/846 ^@ ATP6V0A2, 10132G-A http://identifiers.org/clinvar/914 ^@ NM_000067.2(CA2):c.52A>G (p.Lys18Glu) http://identifiers.org/clinvar/923 ^@ NM_000404.3(GLB1):c.145C>T (p.Arg49Cys) http://identifiers.org/clinvar/947 ^@ NM_000404.3(GLB1):c.1771T>A (p.Tyr591Asn) http://identifiers.org/clinvar/984 ^@ NM_024782.2(NHEJ1):c.177+1_177+3delinsTT http://identifiers.org/clinvar/1005 ^@ NM_152778.2(MFSD8):c.1235C>T (p.Pro412Leu) http://identifiers.org/clinvar/1014 ^@ NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter) http://identifiers.org/clinvar/1023 ^@ NM_020223.3(FAM20C):c.1093G>C (p.Gly365Arg) http://identifiers.org/clinvar/1032 ^@ NM_015559.2(SETBP1):c.2602G>A (p.Asp868Asn) http://identifiers.org/clinvar/1051 ^@ NM_022489.3(INF2):c.653G>A (p.Arg218Gln) http://identifiers.org/clinvar/10185 ^@ NM_000132.3(F8):c.797G>A (p.Gly266Glu) http://identifiers.org/clinvar/10275 ^@ NM_000132.3(F8):c.5398C>T (p.Arg1800Cys) http://identifiers.org/clinvar/10366 ^@ NM_001042351.2(G6PD):c.1311T= (p.Tyr437=) http://identifiers.org/clinvar/10416 ^@ NM_000402.4(G6PD):c.298T>C (p.Tyr100His) http://identifiers.org/clinvar/10465 ^@ NM_000495.4(COL4A5):c.161G>A (p.Gly54Asp) http://identifiers.org/clinvar/10556 ^@ NM_000351.5(STS):c.1331A>G (p.His444Arg) http://identifiers.org/clinvar/10600 ^@ NM_000133.3(F9):c.819T>C (p.Val273=) http://identifiers.org/clinvar/10646 ^@ F9, +13A-G http://identifiers.org/clinvar/10692 ^@ NDP, 1-BP DEL http://identifiers.org/clinvar/10737 ^@ NM_000169.2(GLA):c.890C>T (p.Ser297Phe) http://identifiers.org/clinvar/10782 ^@ NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter) http://identifiers.org/clinvar/10827 ^@ FGD1, EX9-12DEL http://identifiers.org/clinvar/10872 ^@ NM_000284.3(PDHA1):c.934_940delAGTAAGA (p.Ser312Valfs) http://identifiers.org/clinvar/10918 ^@ BCOR, 60-KB DEL http://identifiers.org/clinvar/242794 ^@ NM_000074.2(CD40LG):c.384T>A (p.Ser128Arg) http://identifiers.org/clinvar/11324 ^@ NM_004085.3(TIMM8A):c.238C>T (p.Arg80Ter) http://identifiers.org/clinvar/11428 ^@ NM_001129765.1(NSDHL):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/11479 ^@ NM_001042537.1(SLC9A6):c.608_609delAT (p.His203Leufs) http://identifiers.org/clinvar/11530 ^@ NM_003688.3(CASK):c.1915C>T (p.Arg639Ter) http://identifiers.org/clinvar/11580 ^@ OPHN1, 17.6-KB DEL http://identifiers.org/clinvar/11630 ^@ NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) http://identifiers.org/clinvar/11681 ^@ NM_000307.4(POU3F4):c.862_865delAGTG (p.Val289Argfs) http://identifiers.org/clinvar/11731 ^@ NM_000489.4(ATRX):c.6392G>A (p.Arg2131Gln) http://identifiers.org/clinvar/11783 ^@ ATP7A, 8-BP DEL, NT1552 http://identifiers.org/clinvar/11833 ^@ NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) http://identifiers.org/clinvar/11883 ^@ NM_002769.4(PRSS1):c.364C>T (p.Arg122Cys) http://identifiers.org/clinvar/11933 ^@ NM_000431.3(MVK):c.494C>T (p.Pro165Leu) http://identifiers.org/clinvar/11984 ^@ GLDC, 30-KB DEL http://identifiers.org/clinvar/12035 ^@ NM_000892.4(KLKB1):c.1643G>A (p.Cys548Tyr) http://identifiers.org/clinvar/12085 ^@ NM_000131.4(F7):c.1165T>G (p.Cys389Gly) http://identifiers.org/clinvar/37676 ^@ NM_007294.3(BRCA1):c.548-18T>G http://identifiers.org/clinvar/37730 ^@ NM_000059.3(BRCA2):c.1205delG (p.Gly402Valfs) http://identifiers.org/clinvar/37781 ^@ NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) http://identifiers.org/clinvar/37835 ^@ NM_000059.3(BRCA2):c.3321A>C (p.Gln1107His) http://identifiers.org/clinvar/37887 ^@ NM_000059.3(BRCA2):c.4189G>A (p.Glu1397Lys) http://identifiers.org/clinvar/37940 ^@ NM_000059.3(BRCA2):c.5042_5043delTG (p.Val1681Glufs) http://identifiers.org/clinvar/37993 ^@ NM_000059.3(BRCA2):c.574_575delAT (p.Met192Valfs) http://identifiers.org/clinvar/38045 ^@ NM_000059.3(BRCA2):c.6441C>G (p.His2147Gln) http://identifiers.org/clinvar/38098 ^@ NM_000059.3(BRCA2):c.7466A>G (p.Asp2489Gly) http://identifiers.org/clinvar/38148 ^@ NM_000059.3(BRCA2):c.826_830delGTAAA (p.Val276Terfs) http://identifiers.org/clinvar/38198 ^@ NM_000059.3(BRCA2):c.8953+1G>T http://identifiers.org/clinvar/38248 ^@ NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) http://identifiers.org/clinvar/38310 ^@ NM_000168.5(GLI3):c.2157delC (p.Ile720Serfs) http://identifiers.org/clinvar/38365 ^@ NM_002769.4(PRSS1):c.65A>G (p.Asp22Gly) http://identifiers.org/clinvar/38422 ^@ NM_024312.4(GNPTAB):c.3145_3146insC (p.Gly1049Alafs) http://identifiers.org/clinvar/38569 ^@ NM_000060.4(BTD):c.1158G>A (p.Trp386Ter) http://identifiers.org/clinvar/38750 ^@ NM_000495.4(COL4A5):c.573_574insGA (p.Gly192Glufs) http://identifiers.org/clinvar/38833 ^@ NM_000492.3(CFTR):c.366T>A (p.Tyr122Ter) http://identifiers.org/clinvar/38924 ^@ NM_001099274.1(TINF2):c.860T>C (p.Leu287Pro) http://identifiers.org/clinvar/38975 ^@ NM_004614.4(TK2):c.142dupG (p.Glu48Glyfs) http://identifiers.org/clinvar/39026 ^@ NM_024312.4(GNPTAB):c.1208T>C (p.Ile403Thr) http://identifiers.org/clinvar/39076 ^@ NM_024312.4(GNPTAB):c.3487_3490delACAG (p.Thr1163Terfs) http://identifiers.org/clinvar/39133 ^@ NM_198578.3(LRRK2):c.1464A>T (p.Leu488=) http://identifiers.org/clinvar/39183 ^@ NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His) http://identifiers.org/clinvar/39233 ^@ NM_198578.3(LRRK2):c.713A>T (p.Asn238Ile) http://identifiers.org/clinvar/39284 ^@ NR_001566.1(TERC):n.180C>T http://identifiers.org/clinvar/51149 ^@ NM_000059.3(BRCA2):c.1594G>T (p.Glu532Ter) http://identifiers.org/clinvar/51199 ^@ NM_000059.3(BRCA2):c.1800T>G (p.Tyr600Ter) http://identifiers.org/clinvar/51455 ^@ NM_000059.3(BRCA2):c.3367A>G (p.Ser1123Gly) http://identifiers.org/clinvar/51506 ^@ NM_000059.3(BRCA2):c.3685delG (p.Val1229Phefs) http://identifiers.org/clinvar/51556 ^@ NM_000059.3(BRCA2):c.3900_3905delGACTAC (p.Met1300_Thr1302delinsIle) http://identifiers.org/clinvar/51608 ^@ NM_000059.3(BRCA2):c.4169delT (p.Leu1390Trpfs) http://identifiers.org/clinvar/51660 ^@ NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys) http://identifiers.org/clinvar/52520 ^@ NM_000059.3(BRCA2):c.8177A>G (p.Tyr2726Cys) http://identifiers.org/clinvar/52571 ^@ NM_000059.3(BRCA2):c.838A>G (p.Lys280Glu) http://identifiers.org/clinvar/52621 ^@ NM_000059.3(BRCA2):c.8561dupA (p.Tyr2854Terfs) http://identifiers.org/clinvar/52673 ^@ NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val) http://identifiers.org/clinvar/52723 ^@ NM_000059.3(BRCA2):c.8997G>A (p.Leu2999=) http://identifiers.org/clinvar/52774 ^@ NM_000059.3(BRCA2):c.9196C>G (p.Gln3066Glu) http://identifiers.org/clinvar/52825 ^@ NM_000059.3(BRCA2):c.9376C>T (p.Gln3126Ter) http://identifiers.org/clinvar/52876 ^@ NM_000059.3(BRCA2):c.961C>T (p.Gln321Ter) http://identifiers.org/clinvar/52926 ^@ NM_000059.3(BRCA2):c.9952A>C (p.Asn3318His) http://identifiers.org/clinvar/52976 ^@ NM_000218.2(KCNQ1):c.1293dupG (p.Thr432Aspfs) http://identifiers.org/clinvar/53026 ^@ NM_000218.2(KCNQ1):c.1893delC (p.Arg632Glufs) http://identifiers.org/clinvar/53076 ^@ NM_000218.2(KCNQ1):c.585delG (p.Lys196Serfs) http://identifiers.org/clinvar/53127 ^@ NM_000218.2(KCNQ1):c.921G>A (p.Val307=) http://identifiers.org/clinvar/53179 ^@ NM_000492.3(CFTR):c.1069delG (p.Ala357Leufs) http://identifiers.org/clinvar/53231 ^@ NM_000492.3(CFTR):c.1330_1331delAT (p.Ile444Terfs) http://identifiers.org/clinvar/53282 ^@ NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter) http://identifiers.org/clinvar/53333 ^@ NM_000492.3(CFTR):c.1679+16T>C http://identifiers.org/clinvar/53383 ^@ NM_000492.3(CFTR):c.1766G>C (p.Ser589Thr) http://identifiers.org/clinvar/53435 ^@ NM_000492.3(CFTR):c.2074G>T (p.Glu692Ter) http://identifiers.org/clinvar/53488 ^@ NM_000492.3(CFTR):c.2428A>G (p.Arg810Gly) http://identifiers.org/clinvar/53538 ^@ NM_000492.3(CFTR):c.2658-107G>C http://identifiers.org/clinvar/53588 ^@ NM_000492.3(CFTR):c.2908+2T>C http://identifiers.org/clinvar/53639 ^@ NM_000492.3(CFTR):c.3041_3042delAC (p.Ile1015Leufs) http://identifiers.org/clinvar/53691 ^@ NM_000492.3(CFTR):c.3236A>C (p.His1079Pro) http://identifiers.org/clinvar/53741 ^@ NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter) http://identifiers.org/clinvar/53792 ^@ NM_000492.3(CFTR):c.3718-24_3873+601del781 http://identifiers.org/clinvar/54640 ^@ NM_007294.3(BRCA1):c.2677A>C (p.Lys893Gln) http://identifiers.org/clinvar/54690 ^@ NM_007294.3(BRCA1):c.2830delT (p.Cys944Valfs) http://identifiers.org/clinvar/54740 ^@ NM_007294.3(BRCA1):c.2995C>T (p.Leu999=) http://identifiers.org/clinvar/54790 ^@ NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) http://identifiers.org/clinvar/55094 ^@ NM_007294.3(BRCA1):c.4066_4069delCAAG (p.Gln1356Lysfs) http://identifiers.org/clinvar/55145 ^@ NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter) http://identifiers.org/clinvar/55196 ^@ NM_007294.3(BRCA1):c.441+2T>A http://identifiers.org/clinvar/55246 ^@ NM_007294.3(BRCA1):c.4636G>T (p.Asp1546Tyr) http://identifiers.org/clinvar/55297 ^@ NM_007294.3(BRCA1):c.4833C>T (p.Ala1611=) http://identifiers.org/clinvar/55347 ^@ NM_007294.3(BRCA1):c.4987-5T>A http://identifiers.org/clinvar/55397 ^@ NM_007294.3(BRCA1):c.5096G>C (p.Arg1699Pro) http://identifiers.org/clinvar/55447 ^@ NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) http://identifiers.org/clinvar/55499 ^@ NM_007294.3(BRCA1):c.5277G>A (p.Lys1759=) http://identifiers.org/clinvar/55550 ^@ NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys) http://identifiers.org/clinvar/55600 ^@ NM_007294.3:c.5498_5512del14 http://identifiers.org/clinvar/55650 ^@ NM_007294.3(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209Argfs) http://identifiers.org/clinvar/55703 ^@ NM_007294.3(BRCA1):c.790A>T (p.Ser264Cys) http://identifiers.org/clinvar/55754 ^@ NM_007294.3(BRCA1):c.923delG (p.Ser308Thrfs) http://identifiers.org/clinvar/55826 ^@ NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) http://identifiers.org/clinvar/55888 ^@ NM_001258221.1(KCTD1):c.185G>A (p.Gly62Asp) http://identifiers.org/clinvar/55962 ^@ NM_000111.2(SLC26A3):c.1028G>A (p.Cys343Tyr) http://identifiers.org/clinvar/56014 ^@ NM_000112.3(SLC26A2):c.1394delT (p.Leu465Cysfs) http://identifiers.org/clinvar/56065 ^@ NM_000170.2(GLDC):c.2213_2214delGT (p.Cys738Serfs) http://identifiers.org/clinvar/56119 ^@ NM_000274.3(OAT):c.199+303C>G http://identifiers.org/clinvar/56221 ^@ NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) http://identifiers.org/clinvar/56272 ^@ NM_001042432.1(CLN3):c.461-1G>C http://identifiers.org/clinvar/56324 ^@ NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter) http://identifiers.org/clinvar/56374 ^@ NM_001126105.2(SLC7A7):c.625+1G>A http://identifiers.org/clinvar/56426 ^@ NM_004646.3(NPHS1):c.1134G>A (p.Trp378Ter) http://identifiers.org/clinvar/56476 ^@ NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) http://identifiers.org/clinvar/56526 ^@ NM_006493.2(CLN5):c.1071_1072delCT (p.Leu358Alafs) http://identifiers.org/clinvar/56579 ^@ NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) http://identifiers.org/clinvar/101422 ^@ NM_000090.3(COL3A1):c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW) http://identifiers.org/clinvar/101472 ^@ NM_000090.3(COL3A1):c.2815G>A (p.Gly939Ser) http://identifiers.org/clinvar/102424 ^@ NM_012278.2(ITGB1BP2):c.938C>G (p.Ala313Gly) http://identifiers.org/clinvar/102485 ^@ NM_000277.1(PAH):c.1036G>A (p.Gly346Arg) http://identifiers.org/clinvar/102542 ^@ NM_000277.1(PAH):c.1163_1164delTG (p.Val388Glyfs) http://identifiers.org/clinvar/102594 ^@ NM_000277.1(PAH):c.131_133delAAG (p.Glu44del) http://identifiers.org/clinvar/102649 ^@ NM_000277.1(PAH):c.30C>G (p.Gly10=) http://identifiers.org/clinvar/102801 ^@ NM_000277.1(PAH):c.718T>G (p.Phe240Val) http://identifiers.org/clinvar/102851 ^@ NM_000277.1(PAH):c.820A>G (p.Lys274Glu) http://identifiers.org/clinvar/102903 ^@ NM_000277.1(PAH):c.938C>T (p.Ala313Val) http://identifiers.org/clinvar/102961 ^@ NM_178844.3(NLRC3):c.2630A>C (p.Gln877Pro) http://identifiers.org/clinvar/103011 ^@ NM_000246.3(CIITA):c.580G>A (p.Glu194Lys) http://identifiers.org/clinvar/103061 ^@ NM_001174081.2(NLRP2):c.280+93C>A http://identifiers.org/clinvar/103111 ^@ NM_022162.2(NOD2):c.*192T>C http://identifiers.org/clinvar/103161 ^@ NM_032206.4(NLRC5):c.2418-213C>T http://identifiers.org/clinvar/103211 ^@ NM_032206.4(NLRC5):c.847A>G (p.Ser283Gly) http://identifiers.org/clinvar/103261 ^@ NM_144687.3(NLRP12):c.290-33G>A http://identifiers.org/clinvar/103311 ^@ NM_176810.2(NLRP13):c.2619-24A>G http://identifiers.org/clinvar/103361 ^@ NM_178844.3(NLRC3):c.1928+163T>C http://identifiers.org/clinvar/111235 ^@ NM_005534.3(IFNGR2):c.207-407_207-406insATT http://identifiers.org/clinvar/120170 ^@ NM_000021.3(PSEN1):c.1141C>T (p.Leu381Phe) http://identifiers.org/clinvar/120247 ^@ NM_005188.3(CBL):c.1463C>T (p.Ala488Val) http://identifiers.org/clinvar/120297 ^@ NM_000277.1(PAH):c.931_932delCT (p.Leu311Glyfs) http://identifiers.org/clinvar/125523 ^@ NM_007294.3(BRCA1):c.81-12_81-11insC http://identifiers.org/clinvar/125609 ^@ NM_007294.3(BRCA1):c.3158_3159insG (p.Val1054Serfs) http://identifiers.org/clinvar/125677 ^@ NM_007294.3(BRCA1):c.4097-7A>G http://identifiers.org/clinvar/126005 ^@ NM_000059.3(BRCA2):c.106dupT (p.Ser36Phefs) http://identifiers.org/clinvar/126074 ^@ NM_000059.3(BRCA2):c.5710C>T (p.Leu1904Phe) http://identifiers.org/clinvar/126142 ^@ U43746.1:n.7829+17C>T http://identifiers.org/clinvar/126201 ^@ NM_000059.3(BRCA2):c.9115_9116insTAC (p.Leu3038_Pro3039insLeu) http://identifiers.org/clinvar/126260 ^@ NM_025114.3(CEP290):c.4621delA (p.Thr1541Profs) http://identifiers.org/clinvar/127246 ^@ NM_003401.4(XRCC4):c.127T>C (p.Trp43Arg) http://identifiers.org/clinvar/127298 ^@ NM_000038.5(APC):c.4766G>A (p.Arg1589His) http://identifiers.org/clinvar/127348 ^@ NM_000051.3(ATM):c.2333A>G (p.Asn778Ser) http://identifiers.org/clinvar/158658 ^@ NM_018486.2(HDAC8):c.131delT (p.Leu44Terfs) http://identifiers.org/clinvar/159903 ^@ NM_006517.4(SLC16A2):c.1399+43T>G http://identifiers.org/clinvar/160779 ^@ GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 http://identifiers.org/clinvar/160829 ^@ GRCh38/hg38 8q11.1(chr8:46031334-46792065)x1 http://identifiers.org/clinvar/160882 ^@ GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 http://identifiers.org/clinvar/160934 ^@ GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 http://identifiers.org/clinvar/160984 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 http://identifiers.org/clinvar/161035 ^@ GRCh38/hg38 8p23.3(chr8:244617-2017223)x1 http://identifiers.org/clinvar/161085 ^@ GRCh38/hg38 11p15.5(chr11:196966-244236)x1 http://identifiers.org/clinvar/161135 ^@ NM_152296.4(ATP1A3):c.2270T>C (p.Leu757Pro) http://identifiers.org/clinvar/161217 ^@ NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) http://identifiers.org/clinvar/161317 ^@ NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) http://identifiers.org/clinvar/161267 ^@ NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) http://identifiers.org/clinvar/161367 ^@ NM_000540.2(RYR1):c.2956C>T (p.Arg986Cys) http://identifiers.org/clinvar/161586 ^@ NM_001910.3(CTSE):c.319G>A (p.Val107Met) http://identifiers.org/clinvar/161686 ^@ NM_014982.2(PCNX1):c.3049G>T (p.Ala1017Ser) http://identifiers.org/clinvar/161736 ^@ NM_020786.3(PDP2):c.890A>G (p.Asn297Ser) http://identifiers.org/clinvar/161636 ^@ NM_005560.4(LAMA5):c.2479C>T (p.Arg827Cys) http://identifiers.org/clinvar/161536 ^@ NM_001145468.3(SPECC1L):c.464G>T (p.Arg155Leu) http://identifiers.org/clinvar/177683 ^@ NM_000364.3(TNNT2):c.315_317delGGA (p.Glu106del) http://identifiers.org/clinvar/179794 ^@ NM_004700.3(KCNQ4):c.1954C>G (p.Leu652Val) http://identifiers.org/clinvar/164784 ^@ NM_144573.3(NEXN):c.447+5C>T http://identifiers.org/clinvar/177632 ^@ NM_001001430.2(TNNT2):c.247G>A (p.Glu83Lys) http://identifiers.org/clinvar/165111 ^@ NM_001035.2(RYR2):c.9666C>T (p.Ala3222=) http://identifiers.org/clinvar/179544 ^@ NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) http://identifiers.org/clinvar/178036 ^@ NM_201557.3(FHL2):c.337C>T (p.Arg113Cys) http://identifiers.org/clinvar/179044 ^@ NM_133378.4(TTN):c.55874G>A (p.Arg18625His) http://identifiers.org/clinvar/179844 ^@ NM_206933.2(USH2A):c.1143+12C>T http://identifiers.org/clinvar/178944 ^@ NM_133378.4(TTN):c.87845_87847delAGA (p.Lys29282del) http://identifiers.org/clinvar/180094 ^@ NM_133378.4(TTN):c.73240T>C (p.Phe24414Leu) http://identifiers.org/clinvar/178186 ^@ NM_001256850.1(TTN):c.74940G>A (p.Thr24980=) http://identifiers.org/clinvar/178236 ^@ NM_001256850.1(TTN):c.23014C>T (p.Arg7672Cys) http://identifiers.org/clinvar/180044 ^@ NM_133378.4(TTN):c.10594A>G (p.Asn3532Asp) http://identifiers.org/clinvar/179944 ^@ NM_133379.4(TTN):c.13221G>A (p.Lys4407=) http://identifiers.org/clinvar/179594 ^@ NM_133378.4(TTN):c.18248C>T (p.Thr6083Met) http://identifiers.org/clinvar/179194 ^@ NM_133378.4(TTN):c.11118C>G (p.Ala3706=) http://identifiers.org/clinvar/163155 ^@ NM_001369.2(DNAH5):c.3016A>G (p.Ser1006Gly) http://identifiers.org/clinvar/164876 ^@ NM_194248.2(OTOF):c.898-6C>A http://identifiers.org/clinvar/178086 ^@ NM_000258.2(MYL3):c.*9C>T http://identifiers.org/clinvar/178586 ^@ NM_006005.3(WFS1):c.762C>T (p.Tyr254=) http://identifiers.org/clinvar/179994 ^@ NM_004415.3(DSP):c.3526delG (p.Val1176Phefs) http://identifiers.org/clinvar/165263 ^@ NM_000441.1(SLC26A4):c.2089+1G>A http://identifiers.org/clinvar/179444 ^@ NM_004415.3(DSP):c.5757T>G (p.Asp1919Glu) http://identifiers.org/clinvar/179744 ^@ NM_004999.3(MYO6):c.2665A>G (p.Met889Val) http://identifiers.org/clinvar/179694 ^@ NM_016203.3(PRKAG2):c.946+13G>C http://identifiers.org/clinvar/164991 ^@ NM_016203.3(PRKAG2):c.521C>T (p.Thr174Met) http://identifiers.org/clinvar/163371 ^@ NM_005228.4(EGFR):c.2265C>G (p.Ala755=) http://identifiers.org/clinvar/163627 ^@ NM_032119.3(ADGRV1):c.17192C>G (p.Ser5731Cys) http://identifiers.org/clinvar/201224 ^@ NM_001035.2(RYR2):c.1832T>C (p.Leu611Pro) http://identifiers.org/clinvar/201170 ^@ NM_001035.2(RYR2):c.4096A>G (p.Thr1366Ala) http://identifiers.org/clinvar/201280 ^@ NM_001035.2(RYR2):c.7202G>T (p.Arg2401Leu) http://identifiers.org/clinvar/201394 ^@ NM_001035.2(RYR2):c.10024G>C (p.Ala3342Pro) http://identifiers.org/clinvar/201334 ^@ NM_001035.2(RYR2):c.12533A>G (p.Asn4178Ser) http://identifiers.org/clinvar/199730 ^@ NM_000090.3(COL3A1):c.2464G>A (p.Gly822Ser) http://identifiers.org/clinvar/201503 ^@ NM_198056.2(SCN5A):c.3995C>G (p.Pro1332Arg) http://identifiers.org/clinvar/201561 ^@ NM_198056.2(SCN5A):c.2582_2583delTT (p.Phe861Trpfs) http://identifiers.org/clinvar/201447 ^@ NM_198056.2(SCN5A):c.1134T>A (p.Tyr378Ter) http://identifiers.org/clinvar/199839 ^@ NM_004415.3(DSP):c.3616T>A (p.Leu1206Ile) http://identifiers.org/clinvar/199896 ^@ NM_004415.3(DSP):c.5881G>A (p.Val1961Ile) http://identifiers.org/clinvar/200266 ^@ NM_000238.3(KCNH2):c.3331-9_3331-8delGT http://identifiers.org/clinvar/200686 ^@ NM_000238.3(KCNH2):c.2892dupC (p.Gly965Argfs) http://identifiers.org/clinvar/200415 ^@ NM_000238.3(KCNH2):c.2145G>A (p.Ala715=) http://identifiers.org/clinvar/200580 ^@ NM_000238.3(KCNH2):c.290C>G (p.Ala97Gly) http://identifiers.org/clinvar/200805 ^@ NM_000238.3(KCNH2):c.100delG (p.Ala34Leufs) http://identifiers.org/clinvar/200859 ^@ NM_000218.2(KCNQ1):c.1787A>G (p.Glu596Gly) http://identifiers.org/clinvar/200988 ^@ NM_130799.2(MEN1):c.1660C>T (p.Gln554Ter) http://identifiers.org/clinvar/200123 ^@ NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) http://identifiers.org/clinvar/199952 ^@ NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) http://identifiers.org/clinvar/200066 ^@ NM_000138.4(FBN1):c.5699G>A (p.Cys1900Tyr) http://identifiers.org/clinvar/200178 ^@ NM_000138.4(FBN1):c.1265G>A (p.Gly422Glu) http://identifiers.org/clinvar/200011 ^@ NM_000138.4(FBN1):c.50T>C (p.Leu17Ser) http://identifiers.org/clinvar/201050 ^@ NM_002474.2(MYH11):c.1575+8delG http://identifiers.org/clinvar/201103 ^@ NM_002474.2(MYH11):c.914A>G (p.Asn305Ser) http://identifiers.org/clinvar/199784 ^@ NM_024422.4(DSC2):c.1789G>T (p.Val597Phe) http://identifiers.org/clinvar/200920 ^@ NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) http://identifiers.org/clinvar/242590 ^@ NM_206933.2(USH2A):c.3367T>C (p.Tyr1123His) http://identifiers.org/clinvar/202341 ^@ NM_001256850.1(TTN):c.102238T>C (p.Phe34080Leu) http://identifiers.org/clinvar/203112 ^@ NM_001256850.1(TTN):c.102182C>T (p.Pro34061Leu) http://identifiers.org/clinvar/203062 ^@ NM_001256850.1(TTN):c.96290G>A (p.Arg32097His) http://identifiers.org/clinvar/203012 ^@ NM_001256850.1(TTN):c.90421G>A (p.Val30141Met) http://identifiers.org/clinvar/202912 ^@ NM_001256850.1(TTN):c.77601A>T (p.Lys25867Asn) http://identifiers.org/clinvar/202862 ^@ NM_001256850.1(TTN):c.70625T>C (p.Ile23542Thr) http://identifiers.org/clinvar/202812 ^@ NM_001256850.1(TTN):c.62737G>C (p.Gly20913Arg) http://identifiers.org/clinvar/231840 ^@ NM_005732.3(RAD50):c.102G>A (p.Leu34=) http://identifiers.org/clinvar/233680 ^@ NM_004329.2(BMPR1A):c.1484C>T (p.Ala495Val) http://identifiers.org/clinvar/232040 ^@ NM_000051.3(ATM):c.301G>A (p.Val101Ile) http://identifiers.org/clinvar/234233 ^@ NM_000051.3(ATM):c.8211A>T (p.Thr2737=) http://identifiers.org/clinvar/234133 ^@ NM_000059.3(BRCA2):c.3286G>T (p.Asp1096Tyr) http://identifiers.org/clinvar/233832 ^@ NM_000059.3(BRCA2):c.7071G>T (p.Leu2357=) http://identifiers.org/clinvar/233983 ^@ NM_000059.3(BRCA2):c.9649A>G (p.Met3217Val) http://identifiers.org/clinvar/233782 ^@ NM_004360.4(CDH1):c.276T>C (p.His92=) http://identifiers.org/clinvar/232090 ^@ NM_004360.4(CDH1):c.1509G>C (p.Gln503His) http://identifiers.org/clinvar/234183 ^@ NM_007294.3(BRCA1):c.5287G>C (p.Gly1763Arg) http://identifiers.org/clinvar/232140 ^@ NM_007294.3(BRCA1):c.1749A>G (p.Lys583=) http://identifiers.org/clinvar/231890 ^@ NM_032043.2(BRIP1):c.3118A>C (p.Lys1040Gln) http://identifiers.org/clinvar/234083 ^@ NM_032043.2(BRIP1):c.1752T>C (p.Thr584=) http://identifiers.org/clinvar/233883 ^@ NM_032043.2(BRIP1):c.1008T>C (p.Asp336=) http://identifiers.org/clinvar/231990 ^@ NM_000546.5(TP53):c.890A>G (p.His297Arg) http://identifiers.org/clinvar/235058 ^@ NM_198056.2(SCN5A):c.2735A>G (p.Gln912Arg) http://identifiers.org/clinvar/235008 ^@ NC_012920.1:m.3918G>C http://identifiers.org/clinvar/235146 ^@ NM_033312.2(CDC14A):c.1015C>T (p.Arg339Ter) http://identifiers.org/clinvar/236028 ^@ NM_170672.2(RASGRP3):c.-261+9727G>T http://identifiers.org/clinvar/236129 ^@ NM_000350.2(ABCA4):c.5318C>T (p.Ala1773Val) http://identifiers.org/clinvar/236079 ^@ NM_000350.2(ABCA4):c.1239+1G>C http://identifiers.org/clinvar/236179 ^@ NM_004621.5(TRPC6):c.539T>C (p.Ile180Thr) http://identifiers.org/clinvar/236267 ^@ NM_007294.3(BRCA1):c.1881_1882insCC (p.Ser628Profs) http://identifiers.org/clinvar/236318 ^@ NC_000016.8:g.29554843_30085308dup530466 http://identifiers.org/clinvar/236368 ^@ NC_000015.8:g.20306549_20778963dup472415 http://identifiers.org/clinvar/236419 ^@ NM_014014.4(SNRNP200):c.2879C>T (p.Ala960Val) http://identifiers.org/clinvar/236519 ^@ NM_001142763.1(PCDH15):c.5385_5394delTCCTCTTCCT (p.Pro1796Leufs) http://identifiers.org/clinvar/236469 ^@ NM_025114.3(CEP290):c.148C>T (p.His50Tyr) http://identifiers.org/clinvar/239419 ^@ NM_003000.2(SDHB):c.-151-?_*159+?del http://identifiers.org/clinvar/240959 ^@ NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) http://identifiers.org/clinvar/238815 ^@ NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe) http://identifiers.org/clinvar/238865 ^@ NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu) http://identifiers.org/clinvar/237776 ^@ NM_000393.4(COL5A2):c.3913G>A (p.Ala1305Thr) http://identifiers.org/clinvar/237826 ^@ NM_000465.3(BARD1):c.1887G>T (p.Trp629Cys) http://identifiers.org/clinvar/241959 ^@ NM_152383.4(DIS3L2):c.1097A>C (p.Glu366Ala) http://identifiers.org/clinvar/239819 ^@ NM_004304.4(ALK):c.310C>T (p.Pro104Ser) http://identifiers.org/clinvar/237375 ^@ NM_000251.2(MSH2):c.1813G>C (p.Val605Leu) http://identifiers.org/clinvar/237174 ^@ NM_000179.2(MSH6):c.3052C>A (p.Leu1018Ile) http://identifiers.org/clinvar/241009 ^@ NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) http://identifiers.org/clinvar/241759 ^@ NM_053025.3(MYLK):c.383C>T (p.Ala128Val) http://identifiers.org/clinvar/237325 ^@ NM_000249.3(MLH1):c.1953G>A (p.Glu651=) http://identifiers.org/clinvar/242209 ^@ NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val) http://identifiers.org/clinvar/240069 ^@ NM_004656.3(BAP1):c.932-8T>C http://identifiers.org/clinvar/237275 ^@ NM_000222.2(KIT):c.396G>T (p.Thr132=) http://identifiers.org/clinvar/241859 ^@ NM_139076.2(FAM175A):c.765G>A (p.Glu255=) http://identifiers.org/clinvar/236569 ^@ NM_000038.5(APC):c.2031C>T (p.Val677=) http://identifiers.org/clinvar/236619 ^@ NM_000038.5(APC):c.5348C>T (p.Thr1783Ile) http://identifiers.org/clinvar/238965 ^@ NM_001369.2(DNAH5):c.13843C>T (p.Arg4615Cys) http://identifiers.org/clinvar/239066 ^@ NM_001903.4(CTNNA1):c.589-5T>C http://identifiers.org/clinvar/239669 ^@ NM_004168.3(SDHA):c.451G>A (p.Val151Ile) http://identifiers.org/clinvar/239116 ^@ NM_002290.4(LAMA4):c.98C>G (p.Pro33Arg) http://identifiers.org/clinvar/241409 ^@ NM_021930.5(RINT1):c.43-5_43-3delTCT http://identifiers.org/clinvar/238915 ^@ NM_001277115.1(DNAH11):c.4124G>A (p.Arg1375His) http://identifiers.org/clinvar/261808 ^@ NM_025074.6(FRAS1):c.604-8G>A http://identifiers.org/clinvar/257979 ^@ NM_001369.2(DNAH5):c.11570+13G>A http://identifiers.org/clinvar/261408 ^@ NM_021147.4(CCNO):c.382-19C>G http://identifiers.org/clinvar/261558 ^@ NM_022132.4(MCCC2):c.1578A>G (p.Val526=) http://identifiers.org/clinvar/257379 ^@ NM_001080479.2(ARHGEF28):c.945T>C (p.Ala315=) http://identifiers.org/clinvar/259118 ^@ NM_003664.4(AP3B1):c.1364-18A>G http://identifiers.org/clinvar/254740 ^@ NM_000046.3(ARSB):c.691-22T>C http://identifiers.org/clinvar/259368 ^@ NM_004385.4(VCAN):c.5576C>A (p.Ala1859Glu) http://identifiers.org/clinvar/261108 ^@ NM_019105.6(TNXB):c.11406T>C (p.Asp3802=) http://identifiers.org/clinvar/261158 ^@ NM_019105.6(TNXB):c.7377C>T (p.Gly2459=) http://identifiers.org/clinvar/259318 ^@ NM_004370.5(COL12A1):c.1188A>C (p.Ala396=) http://identifiers.org/clinvar/259618 ^@ NM_005045.3(RELN):c.9370-30C>G http://identifiers.org/clinvar/255440 ^@ NM_000168.5(GLI3):c.4007G>A (p.Gly1336Glu) http://identifiers.org/clinvar/256179 ^@ NM_000445.4(PLEC):c.8570A>G (p.Tyr2857Cys) http://identifiers.org/clinvar/260908 ^@ NM_017780.3(CHD7):c.5607+30G>T http://identifiers.org/clinvar/255090 ^@ NM_000093.4(COL5A1):c.4954+16G>A http://identifiers.org/clinvar/260119 ^@ NM_007126.3(VCP):c.1082-18_1082-8dupTTGTGTACTGT http://identifiers.org/clinvar/259769 ^@ NM_005445.3(SMC3):c.2644+48A>G http://identifiers.org/clinvar/256879 ^@ NM_001008211.1(OPTN):c.1613-48C>A http://identifiers.org/clinvar/261708 ^@ NM_024426.4(WT1):c.1059A>G (p.Gln353=) http://identifiers.org/clinvar/258968 ^@ NM_003156.3(STIM1):c.114C>G (p.Ala38=) http://identifiers.org/clinvar/259168 ^@ NM_003793.3(CTSF):c.1401T>C (p.Arg467=) http://identifiers.org/clinvar/255490 ^@ NM_000192.3(TBX5):c.1152G>A (p.Ala384=) http://identifiers.org/clinvar/260169 ^@ NM_012064.3(MIP):c.319G>A (p.Val107Ile) http://identifiers.org/clinvar/256679 ^@ NM_000552.4(VWF):c.4414G>C (p.Asp1472His) http://identifiers.org/clinvar/261758 ^@ NM_024685.3(BBS10):c.966T>C (p.Tyr322=) http://identifiers.org/clinvar/261458 ^@ NM_021954.3(GJA3):c.543C>T (p.Cys181=) http://identifiers.org/clinvar/255140 ^@ NM_000115.4(EDNRB):c.1239C>G (p.Ser413=) http://identifiers.org/clinvar/261608 ^@ NM_022489.3(INF2):c.2458C>T (p.Arg820Trp) http://identifiers.org/clinvar/261008 ^@ NM_018139.2(DNAAF2):c.1110G>A (p.Ala370=) http://identifiers.org/clinvar/257129 ^@ NM_001024858.2(SPTB):c.5535C>T (p.Leu1845=) http://identifiers.org/clinvar/255290 ^@ NM_000138.4(FBN1):c.2855-29A>G http://identifiers.org/clinvar/332514 ^@ NM_003659.3(AGPS):c.451A>T (p.Asn151Tyr) http://identifiers.org/clinvar/332864 ^@ NM_133378.4(TTN):c.37295T>C (p.Ile12432Thr) http://identifiers.org/clinvar/333014 ^@ NM_201548.4(CERKL):c.199G>A (p.Ala67Thr) http://identifiers.org/clinvar/337122 ^@ NM_013247.4(HTRA2):c.-236G>C http://identifiers.org/clinvar/337222 ^@ NM_000821.6(GGCX):c.*2060T>C http://identifiers.org/clinvar/337272 ^@ NM_000821.6(GGCX):c.539+10delA http://identifiers.org/clinvar/337372 ^@ NM_022912.2(REEP1):c.*1386T>C http://identifiers.org/clinvar/336572 ^@ NM_001135659.2(NRXN1):c.-747C>G http://identifiers.org/clinvar/336622 ^@ NM_001039348.2(EFEMP1):c.1000+9delA http://identifiers.org/clinvar/337022 ^@ NM_015120.4(ALMS1):c.6850C>T (p.Leu2284Phe) http://identifiers.org/clinvar/337322 ^@ NM_003896.3(ST3GAL5):c.*607C>T http://identifiers.org/clinvar/337422 ^@ NM_004836.6(EIF2AK3):c.-17C>G http://identifiers.org/clinvar/342891 ^@ NM_053025.3(MYLK):c.2253C>T (p.Thr751=) http://identifiers.org/clinvar/342941 ^@ NM_000373.3(UMPS):c.*725A>T http://identifiers.org/clinvar/342991 ^@ NM_000373.3(UMPS):c.*2938_*2941dupTTTG http://identifiers.org/clinvar/343391 ^@ NM_153240.4(NPHP3):c.384C>G (p.Ala128=) http://identifiers.org/clinvar/343491 ^@ NM_020191.2(MRPS22):c.987+15delT http://identifiers.org/clinvar/343591 ^@ NM_004628.4(XPC):c.-71C>T http://identifiers.org/clinvar/343141 ^@ NM_032638.4(GATA2):c.114G>A (p.Gln38=) http://identifiers.org/clinvar/343241 ^@ NM_052985.3(IFT122):c.1686G>A (p.Leu562=) http://identifiers.org/clinvar/343291 ^@ NM_000539.3(RHO):c.*276C>T http://identifiers.org/clinvar/354657 ^@ NM_000439.4(PCSK1):c.-137A>G http://identifiers.org/clinvar/355007 ^@ NM_004752.3(GCM2):c.1364G>A (p.Arg455Gln) http://identifiers.org/clinvar/351520 ^@ NM_006846.3(SPINK5):c.834A>C (p.Gln278His) http://identifiers.org/clinvar/351420 ^@ NM_054027.4(ANKH):c.*4137G>C http://identifiers.org/clinvar/355747 ^@ NM_203395.2(IYD):c.*2956A>G http://identifiers.org/clinvar/351720 ^@ NM_024577.3(SH3TC2):c.*10101C>T http://identifiers.org/clinvar/355947 ^@ NM_033071.3(SYNE1):c.424-10T>G http://identifiers.org/clinvar/351920 ^@ NM_024577.3(SH3TC2):c.390C>T (p.Tyr130=) http://identifiers.org/clinvar/356047 ^@ NM_003730.4(RNASET2):c.-183delC http://identifiers.org/clinvar/351820 ^@ NM_024577.3(SH3TC2):c.*4604G>A http://identifiers.org/clinvar/352068 ^@ NM_000112.3(SLC26A2):c.*2780G>A http://identifiers.org/clinvar/356247 ^@ NM_000063.5(C2):c.1130-11C>T http://identifiers.org/clinvar/352118 ^@ NM_005211.3(CSF1R):c.*116C>T http://identifiers.org/clinvar/352168 ^@ NM_005211.3(CSF1R):c.518A>G (p.Gln173Arg) http://identifiers.org/clinvar/356497 ^@ NM_182548.3(LHFPL5):c.*385C>T http://identifiers.org/clinvar/356547 ^@ NM_182548.3(LHFPL5):c.*778C>T http://identifiers.org/clinvar/356597 ^@ NM_005943.5(MOCS1):c.*2432_*2435delATAG http://identifiers.org/clinvar/359946 ^@ NM_005522.4(HOXA1):c.*907A>G http://identifiers.org/clinvar/360046 ^@ NM_203288.1(RP9):c.156C>T (p.Tyr52=) http://identifiers.org/clinvar/356697 ^@ NM_000409.4(GUCA1A):c.*479C>T http://identifiers.org/clinvar/360146 ^@ NM_133468.4(BMPER):c.*1667G>C http://identifiers.org/clinvar/360246 ^@ NM_000168.5(GLI3):c.1462G>A (p.Ala488Thr) http://identifiers.org/clinvar/356947 ^@ NM_006502.2(POLH):c.*1764C>T http://identifiers.org/clinvar/360296 ^@ NM_000162.3(GCK):c.*297T>G http://identifiers.org/clinvar/360346 ^@ NM_014855.2(AP5Z1):c.*68G>A http://identifiers.org/clinvar/360646 ^@ NM_000501.3(ELN):c.1096+49_1096+50delGT http://identifiers.org/clinvar/361436 ^@ NM_178857.5(RP1L1):c.-49G>A http://identifiers.org/clinvar/353657 ^@ NM_000436.3(OXCT1):c.1555G>A (p.Ala519Thr) http://identifiers.org/clinvar/361595 ^@ NM_014112.4(TRPS1):c.*522G>T http://identifiers.org/clinvar/353707 ^@ NM_000163.4(GHR):c.*1539G>A http://identifiers.org/clinvar/353757 ^@ NM_002203.3(ITGA2):c.1789C>T (p.Arg597Cys) http://identifiers.org/clinvar/306230 ^@ NM_024698.5(SLC25A22):c.*1431T>A http://identifiers.org/clinvar/300037 ^@ NM_000124.3(ERCC6):c.4223A>C (p.Glu1408Ala) http://identifiers.org/clinvar/306531 ^@ NM_016156.5(MTMR2):c.*133C>G http://identifiers.org/clinvar/300137 ^@ NM_000242.2(MBL2):c.*953T>C http://identifiers.org/clinvar/306631 ^@ NM_139319.2(SLC17A8):c.913A>G (p.Thr305Ala) http://identifiers.org/clinvar/364284 ^@ NM_001701.3(BAAT):c.-116G>A http://identifiers.org/clinvar/364384 ^@ NM_005502.3(ABCA1):c.5813C>T (p.Pro1938Leu) http://identifiers.org/clinvar/300287 ^@ NM_018055.4(NODAL):c.*747dupA http://identifiers.org/clinvar/364334 ^@ NM_005502.3(ABCA1):c.*2409T>C http://identifiers.org/clinvar/300337 ^@ NM_001083116.1(PRF1):c.-41C>T http://identifiers.org/clinvar/306931 ^@ NM_018082.5(POLR3B):c.975A>G (p.Glu325=) http://identifiers.org/clinvar/307131 ^@ NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val) http://identifiers.org/clinvar/364434 ^@ NM_005502.3(ABCA1):c.2283C>T (p.Tyr761=) http://identifiers.org/clinvar/364684 ^@ NM_015404.3(WHRN):c.2130C>A (p.Gly710=) http://identifiers.org/clinvar/364484 ^@ NM_001079802.1(FKTN):c.-158G>C http://identifiers.org/clinvar/300687 ^@ NM_016065.3(MRPS16):c.*1761A>G http://identifiers.org/clinvar/300837 ^@ NM_001123.3(ADK):c.208A>G (p.Ile70Val) http://identifiers.org/clinvar/301037 ^@ NM_007055.3(POLR3A):c.3846C>T (p.Ile1282=) http://identifiers.org/clinvar/364884 ^@ NM_002316.3(LMX1B):c.742-15C>G http://identifiers.org/clinvar/365034 ^@ NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) http://identifiers.org/clinvar/365084 ^@ NM_000118.3(ENG):c.*26G>C http://identifiers.org/clinvar/364934 ^@ NM_002316.3(LMX1B):c.*1574G>T http://identifiers.org/clinvar/301187 ^@ NM_000429.2(MAT1A):c.642G>A (p.Thr214=) http://identifiers.org/clinvar/364984 ^@ NM_002316.3(LMX1B):c.*3881G>T http://identifiers.org/clinvar/365284 ^@ NM_007171.3(POMT1):c.2133C>A (p.His711Gln) http://identifiers.org/clinvar/308470 ^@ NM_004572.3(PKP2):c.*1311delT http://identifiers.org/clinvar/365484 ^@ NM_000368.4(TSC1):c.*1000A>G http://identifiers.org/clinvar/308820 ^@ NM_001017535.1(VDR):c.*2413G>C http://identifiers.org/clinvar/308870 ^@ NM_001017535.1(VDR):c.*184T>G http://identifiers.org/clinvar/365334 ^@ NM_015046.5(SETX):c.*319C>T http://identifiers.org/clinvar/308970 ^@ NM_003482.3(KMT2D):c.*2354G>T http://identifiers.org/clinvar/365434 ^@ NM_000368.4(TSC1):c.*2874G>A http://identifiers.org/clinvar/366174 ^@ NM_144966.5(FREM1):c.273T>C (p.Tyr91=) http://identifiers.org/clinvar/366324 ^@ NM_003070.4(SMARCA2):c.4717G>A (p.Asp1573Asn) http://identifiers.org/clinvar/366474 ^@ NM_000459.4(TEK):c.*684C>A http://identifiers.org/clinvar/366724 ^@ NM_007126.3(VCP):c.-221_-216dupGCTGCC http://identifiers.org/clinvar/366374 ^@ NM_003383.4(VLDLR):c.2546T>C (p.Ile849Thr) http://identifiers.org/clinvar/302826 ^@ NM_005188.3(CBL):c.*2697C>T http://identifiers.org/clinvar/366524 ^@ NM_001256054.2(C9orf72):c.870C>T (p.Ser290=) http://identifiers.org/clinvar/367024 ^@ NM_203447.3(DOCK8):c.5266A>C (p.Ile1756Leu) http://identifiers.org/clinvar/367074 ^@ NM_004170.5(SLC1A1):c.*675A>G http://identifiers.org/clinvar/314363 ^@ NM_001040108.1(MLH3):c.*958G>T http://identifiers.org/clinvar/312874 ^@ NM_002471.3(MYH6):c.1944G>A (p.Thr648=) http://identifiers.org/clinvar/340802 ^@ NM_017929.5(PEX26):c.*1957G>A http://identifiers.org/clinvar/313024 ^@ NM_025152.2(NUBPL):c.369G>A (p.Pro123=) http://identifiers.org/clinvar/340952 ^@ NM_004076.4(CRYBB3):c.213C>T (p.Ser71=) http://identifiers.org/clinvar/341002 ^@ NM_022081.5(HPS4):c.1700C>T (p.Ala567Val) http://identifiers.org/clinvar/341152 ^@ NM_000268.3(NF2):c.*2670C>A http://identifiers.org/clinvar/341202 ^@ NM_000355.3(TCN2):c.810G>T (p.Ala270=) http://identifiers.org/clinvar/322848 ^@ NM_004937.2(CTNS):c.*55C>G http://identifiers.org/clinvar/322998 ^@ NM_001004334.3(GPR179):c.3474C>A (p.Asn1158Lys) http://identifiers.org/clinvar/323098 ^@ NM_002274.3(KRT13):c.509C>G (p.Thr170Ser) http://identifiers.org/clinvar/323198 ^@ NM_021939.3(FKBP10):c.*421C>G http://identifiers.org/clinvar/323248 ^@ NM_139276.2(STAT3):c.405C>T (p.Ala135=) http://identifiers.org/clinvar/323348 ^@ NM_032387.4(WNK4):c.2900C>G (p.Pro967Arg) http://identifiers.org/clinvar/342102 ^@ NM_015166.3(MLC1):c.*9C>T http://identifiers.org/clinvar/323448 ^@ NM_153006.2(NAGS):c.1268+11G>A http://identifiers.org/clinvar/314113 ^@ NM_031427.3(DNAL1):c.*6016delA http://identifiers.org/clinvar/367953 ^@ NM_003413.3(ZIC3):c.131C>G (p.Thr44Ser) http://identifiers.org/clinvar/314213 ^@ NM_182894.2(VSX2):c.*579C>T http://identifiers.org/clinvar/314263 ^@ NM_000428.2(LTBP2):c.*55G>A http://identifiers.org/clinvar/368153 ^@ NM_014332.2(SMPX):c.-54G>A http://identifiers.org/clinvar/316302 ^@ NM_000138.4(FBN1):c.*2524A>G http://identifiers.org/clinvar/314413 ^@ NM_017791.2(FLVCR2):c.604G>A (p.Ala202Thr) http://identifiers.org/clinvar/316702 ^@ NM_000942.4(PPIB):c.426C>T (p.Asn142=) http://identifiers.org/clinvar/314663 ^@ NM_004863.3(SPTLC2):c.*6T>G http://identifiers.org/clinvar/324446 ^@ NM_016360.3(TACO1):c.515+11G>A http://identifiers.org/clinvar/314713 ^@ NM_000369.2(TSHR):c.*1106G>T http://identifiers.org/clinvar/316802 ^@ NM_004727.2(SLC24A1):c.2349T>C (p.Gly783=) http://identifiers.org/clinvar/316852 ^@ NM_005902.3(SMAD3):c.-265T>G http://identifiers.org/clinvar/324596 ^@ NM_014336.4(AIPL1):c.*280G>A http://identifiers.org/clinvar/314813 ^@ NM_018319.3(TDP1):c.-275C>G http://identifiers.org/clinvar/316902 ^@ NM_005902.3(SMAD3):c.*1423C>T http://identifiers.org/clinvar/324696 ^@ NM_031220.3(PITPNM3):c.*2391_*2394delAGAG http://identifiers.org/clinvar/316952 ^@ NM_005902.3(SMAD3):c.*3117G>T http://identifiers.org/clinvar/324746 ^@ NM_031220.3(PITPNM3):c.1997C>T (p.Thr666Ile) http://identifiers.org/clinvar/317202 ^@ NM_000137.2(FAH):c.81+8G>A http://identifiers.org/clinvar/317353 ^@ NM_198525.2(KIF7):c.3112-10G>A http://identifiers.org/clinvar/317403 ^@ NM_000057.3(BLM):c.-65C>T http://identifiers.org/clinvar/317453 ^@ NM_000875.4(IGF1R):c.2401A>G (p.Ile801Val) http://identifiers.org/clinvar/325096 ^@ NM_207346.2(TSEN54):c.1452C>T (p.Asp484=) http://identifiers.org/clinvar/325146 ^@ NM_001005731.2(ITGB4):c.1593C>T (p.Tyr531=) http://identifiers.org/clinvar/317553 ^@ NM_000875.4(IGF1R):c.*3364T>C http://identifiers.org/clinvar/325196 ^@ NM_001005731.2(ITGB4):c.4379C>T (p.Thr1460Met) http://identifiers.org/clinvar/317703 ^@ NM_000246.3(CIITA):c.2087A>G (p.Gln696Arg) http://identifiers.org/clinvar/325596 ^@ NM_006640.4(SEPT9):c.*759A>G http://identifiers.org/clinvar/318003 ^@ NM_014714.3(IFT140):c.3660+13C>T http://identifiers.org/clinvar/325797 ^@ NM_000152.4(GAA):c.2800-9C>G http://identifiers.org/clinvar/371868 ^@ NM_000059.3(BRCA2):c.7976+24G>A http://identifiers.org/clinvar/373463 ^@ NM_020760.3(HECW2):c.1887C>G (p.Ser629Arg) http://identifiers.org/clinvar/373513 ^@ NM_000143.3(FH):c.1302C>A (p.Cys434Ter) http://identifiers.org/clinvar/373263 ^@ NM_015120.4(ALMS1):c.4827_4829delTGA (p.Asp1610del) http://identifiers.org/clinvar/373363 ^@ NM_000090.3(COL3A1):c.897+1G>A http://identifiers.org/clinvar/373613 ^@ NM_001999.3(FBN2):c.7658G>C (p.Gly2553Ala) http://identifiers.org/clinvar/373663 ^@ NM_005411.4(SFTPA1):c.91G>C (p.Gly31Arg) http://identifiers.org/clinvar/373313 ^@ NM_003919.2(SGCE):c.348delG (p.Ser117Profs) http://identifiers.org/clinvar/373563 ^@ NM_004820.4(CYP7B1):c.1031A>C (p.Glu344Ala) http://identifiers.org/clinvar/373213 ^@ NM_001376.4(DYNC1H1):c.5885G>A (p.Arg1962His) http://identifiers.org/clinvar/373813 ^@ NM_001127464.2(ZNF469):c.5830G>A (p.Gly1944Arg) http://identifiers.org/clinvar/372860 ^@ NM_024306.4(FA2H):c.139G>A (p.Glu47Lys) http://identifiers.org/clinvar/373413 ^@ NM_000512.4(GALNS):c.911G>T (p.Gly304Val) http://identifiers.org/clinvar/372911 ^@ NM_000833.4(GRIN2A):c.2138T>G (p.Val713Gly) http://identifiers.org/clinvar/373763 ^@ NM_014798.2(PLEKHM1):c.884G>A (p.Gly295Asp) http://identifiers.org/clinvar/373713 ^@ NM_139058.2(ARX):c.196G>A (p.Gly66Ser) http://identifiers.org/clinvar/373863 ^@ NG_005905.2:g.(?_92501)_(135581_1441370)del http://identifiers.org/clinvar/373966 ^@ NM_001136504.1(SYT2):c.1084_1089delTATGAC (p.Tyr362_Asp363del) http://identifiers.org/clinvar/373916 ^@ NM_000350.2(ABCA4):c.688T>A (p.Cys230Ser) http://identifiers.org/clinvar/374066 ^@ NM_001127698.1(SPINK5):c.891C>T (p.Cys297=) http://identifiers.org/clinvar/374116 ^@ NM_000124.3(ERCC6):c.1589T>C (p.Leu530Pro) http://identifiers.org/clinvar/374016 ^@ NM_000212.2(ITGB3):c.749A>G (p.Asp250Gly) http://identifiers.org/clinvar/374166 ^@ NM_000271.4(NPC1):c.3560C>G (p.Ala1187Gly) http://identifiers.org/clinvar/374405 ^@ NM_001289396.1(SMARCA2):c.3917G>A (p.Arg1306Lys) http://identifiers.org/clinvar/374220 ^@ NM_134260.2(RORA):c.1118delG (p.Arg373Profs) http://identifiers.org/clinvar/374340 ^@ NM_000521.3(HEXB):c.272G>C (p.Cys91Ser) http://identifiers.org/clinvar/374270 ^@ NM_000193.3(SHH):c.1284delC (p.Thr429Profs) http://identifiers.org/clinvar/374458 ^@ NM_000411.6(HLCS):c.88A>G (p.Lys30Glu) http://identifiers.org/clinvar/374508 ^@ NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) http://identifiers.org/clinvar/374558 ^@ NM_007208.3(MRPL3):c.931G>A (p.Gly311Ser) http://identifiers.org/clinvar/374608 ^@ NM_001982.3(ERBB3):c.2274+1G>A http://identifiers.org/clinvar/374658 ^@ NM_000666.2(ACY1):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/375652 ^@ NM_012186.2(FOXE3):c.410G>A (p.Gly137Asp) http://identifiers.org/clinvar/375741 ^@ NM_001330069.1(PRKD1):c.920T>G (p.Leu307Trp) http://identifiers.org/clinvar/375846 ^@ NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr) http://identifiers.org/clinvar/375796 ^@ NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) http://identifiers.org/clinvar/375899 ^@ NM_006218.3(PIK3CA):c.1637A>T (p.Gln546Leu) http://identifiers.org/clinvar/378966 ^@ NM_000179.2(MSH6):c.849G>A (p.Gly283=) http://identifiers.org/clinvar/381559 ^@ NM_033084.4(FANCD2):c.990-1G>A http://identifiers.org/clinvar/393231 ^@ NM_015120.4(ALMS1):c.8893A>G (p.Ile2965Val) http://identifiers.org/clinvar/391692 ^@ NM_001039550.1(DNAJB2):c.544C>T (p.Arg182Cys) http://identifiers.org/clinvar/379266 ^@ NM_003849.3(SUCLG1):c.-217T>C http://identifiers.org/clinvar/384854 ^@ NM_014049.4(ACAD9):c.*18C>G http://identifiers.org/clinvar/380909 ^@ NM_032446.2(MEGF10):c.3189G>A (p.Glu1063=) http://identifiers.org/clinvar/391392 ^@ NM_006017.2(PROM1):c.1199T>C (p.Leu400Pro) http://identifiers.org/clinvar/385504 ^@ NM_032446.2(MEGF10):c.-66A>G http://identifiers.org/clinvar/391592 ^@ NM_000096.3(CP):c.1472A>G (p.Tyr491Cys) http://identifiers.org/clinvar/381459 ^@ NM_001167734.1(VARS2):c.966G>A (p.Val322=) http://identifiers.org/clinvar/389842 ^@ NM_014845.5(FIG4):c.33G>C (p.Ser11=) http://identifiers.org/clinvar/390342 ^@ NM_004415.3(DSP):c.1575-16C>G http://identifiers.org/clinvar/381860 ^@ NM_002397.4(MEF2C):c.527C>A (p.Ser176Tyr) http://identifiers.org/clinvar/380557 ^@ NM_002489.3(NDUFA4):c.-7C>T http://identifiers.org/clinvar/391492 ^@ NM_019105.6(TNXB):c.8392C>T (p.Arg2798Cys) http://identifiers.org/clinvar/385554 ^@ NM_000083.2(CLCN1):c.854-8C>T http://identifiers.org/clinvar/390392 ^@ NM_000535.6(PMS2):c.250+12T>C http://identifiers.org/clinvar/390842 ^@ NM_004333.4(BRAF):c.567T>C (p.Gly189=) http://identifiers.org/clinvar/379066 ^@ NM_014141.5(CNTNAP2):c.3010+5G>A http://identifiers.org/clinvar/392581 ^@ NM_000038.5(APC):c.6855T>C (p.Val2285=) http://identifiers.org/clinvar/379816 ^@ NM_014141.5(CNTNAP2):c.1076C>G (p.Ser359Ter) http://identifiers.org/clinvar/385804 ^@ NM_000443.3(ABCB4):c.525G>A (p.Thr175=) http://identifiers.org/clinvar/378866 ^@ NM_005431.1(XRCC2):c.711C>T (p.His237=) http://identifiers.org/clinvar/385754 ^@ NM_000445.4(PLEC):c.5427C>T (p.Ser1809=) http://identifiers.org/clinvar/381109 ^@ NM_001130438.2(SPTAN1):c.3156-4G>A http://identifiers.org/clinvar/385654 ^@ NM_007327.3(GRIN1):c.693A>C (p.Val231=) http://identifiers.org/clinvar/379516 ^@ NM_002485.4(NBN):c.1124+20G>A http://identifiers.org/clinvar/392881 ^@ NM_032634.3(PIGO):c.469G>A (p.Ala157Thr) http://identifiers.org/clinvar/133006 ^@ NM_000540.2(RYR1):c.1116G>A (p.Lys372=) http://identifiers.org/clinvar/133056 ^@ NM_000540.2(RYR1):c.14002C>T (p.Pro4668Ser) http://identifiers.org/clinvar/133106 ^@ NM_000540.2(RYR1):c.1654C>T (p.Arg552Trp) http://identifiers.org/clinvar/133156 ^@ NM_000540.2(RYR1):c.6349G>C (p.Val2117Leu) http://identifiers.org/clinvar/133206 ^@ NM_000540.2(RYR1):c.7522C>G (p.Arg2508Gly) http://identifiers.org/clinvar/133282 ^@ NM_000546.5(TP53):c.448_459delACACCCCCGCCC (p.Thr150_Pro153del) http://identifiers.org/clinvar/133348 ^@ NM_015726.3(DCAF8):c.949C>T (p.Arg317Cys) http://identifiers.org/clinvar/133398 ^@ NM_003820.3(TNFRSF14):c.305-654A>G http://identifiers.org/clinvar/133448 ^@ NM_007313.2(ABL1):c.185G>A (p.Ser62Asn) http://identifiers.org/clinvar/133498 ^@ NM_152424.3(AMER1):c.2157G>A (p.Met719Ile) http://identifiers.org/clinvar/133549 ^@ NM_006015.4(ARID1A):c.4304A>G (p.Tyr1435Cys) http://identifiers.org/clinvar/133649 ^@ NM_000489.4(ATRX):c.2648A>G (p.Gln883Arg) http://identifiers.org/clinvar/133953 ^@ NM_001904.3(CTNNB1):c.605T>C (p.Met202Thr) http://identifiers.org/clinvar/134003 ^@ NM_001077706.2(ECT2L):c.2555G>A (p.Arg852Gln) http://identifiers.org/clinvar/134055 ^@ NM_001429.3(EP300):c.7139C>T (p.Pro2380Leu) http://identifiers.org/clinvar/135003 ^@ NM_016734.2(PAX5):c.964G>A (p.Ala322Thr) http://identifiers.org/clinvar/135053 ^@ NM_000534.4(PMS1):c.1436G>C (p.Gly479Ala) http://identifiers.org/clinvar/135104 ^@ NM_000264.3(PTCH1):c.4274C>T (p.Ser1425Leu) http://identifiers.org/clinvar/135155 ^@ NM_004260.3(RECQL4):c.3421T>C (p.Cys1141Arg) http://identifiers.org/clinvar/135236 ^@ NM_014159.6(SETD2):c.2297T>C (p.Met766Thr) http://identifiers.org/clinvar/135287 ^@ NM_001127208.2(TET2):c.5284A>G (p.Ile1762Val) http://identifiers.org/clinvar/135337 ^@ NM_006290.3(TNFAIP3):c.839G>A (p.Arg280Gln) http://identifiers.org/clinvar/135387 ^@ NM_000548.4(TSC2):c.4335G>T (p.Leu1445Phe) http://identifiers.org/clinvar/135438 ^@ NM_000553.4(WRN):c.4165A>G (p.Lys1389Glu) http://identifiers.org/clinvar/135488 ^@ NM_004628.4(XPC):c.1022C>G (p.Ala341Gly) http://identifiers.org/clinvar/135538 ^@ NM_004456.4(EZH2):c.1240+9C>A http://identifiers.org/clinvar/135664 ^@ NM_181705.3(LYRM7):c.73G>A (p.Asp25Asn) http://identifiers.org/clinvar/135724 ^@ NM_000038.5(APC):c.8266A>G (p.Ile2756Val) http://identifiers.org/clinvar/135775 ^@ NM_000051.3(ATM):c.6807G>A (p.Gln2269=) http://identifiers.org/clinvar/135833 ^@ NM_000179.2(MSH6):c.2200G>A (p.Val734Met) http://identifiers.org/clinvar/135883 ^@ NM_000264.3(PTCH1):c.2787C>T (p.Asn929=) http://identifiers.org/clinvar/135933 ^@ NM_000535.6(PMS2):c.1320A>G (p.Pro440=) http://identifiers.org/clinvar/135985 ^@ NM_001128425.1(MUTYH):c.268G>A (p.Val90Ile) http://identifiers.org/clinvar/136035 ^@ NM_002485.4(NBN):c.1361C>A (p.Ser454Tyr) http://identifiers.org/clinvar/136086 ^@ NM_007294.3(BRCA1):c.3874delT (p.Ser1292Leufs) http://identifiers.org/clinvar/136136 ^@ NM_024675.3(PALB2):c.2753C>A (p.Pro918Gln) http://identifiers.org/clinvar/136196 ^@ NM_130838.1(UBE3A):c.580dupA (p.Ser194Lysfs) http://identifiers.org/clinvar/136247 ^@ NM_004299.4(ABCB7):c.2046+17T>A http://identifiers.org/clinvar/136298 ^@ NM_020247.4(COQ8A):c.258A>C (p.Ala86=) http://identifiers.org/clinvar/136349 ^@ NM_005751.4(AKAP9):c.3075C>T (p.Thr1025=) http://identifiers.org/clinvar/136400 ^@ NM_001148.4(ANK2):c.*7C>T http://identifiers.org/clinvar/185288 ^@ NM_007294.3(BRCA1):c.4971G>A (p.Leu1657=) http://identifiers.org/clinvar/186138 ^@ NM_007294.3(BRCA1):c.3582C>T (p.Thr1194=) http://identifiers.org/clinvar/185888 ^@ NM_007294.3(BRCA1):c.1226T>C (p.Val409Ala) http://identifiers.org/clinvar/185488 ^@ NM_007294.3(BRCA1):c.416A>G (p.Gln139Arg) http://identifiers.org/clinvar/185538 ^@ NM_032043.2(BRIP1):c.1474-3T>C http://identifiers.org/clinvar/185388 ^@ NM_005359.5(SMAD4):c.743A>T (p.Gln248Leu) http://identifiers.org/clinvar/188215 ^@ NM_000251.2(MSH2):c.2179G>C (p.Ala727Pro) http://identifiers.org/clinvar/188269 ^@ NM_000179.2(MSH6):c.533G>A (p.Arg178His) http://identifiers.org/clinvar/188374 ^@ NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) http://identifiers.org/clinvar/188321 ^@ NM_001080463.1(DYNC2H1):c.12577G>A (p.Glu4193Lys) http://identifiers.org/clinvar/188164 ^@ NM_025137.3(SPG11):c.(?_-1)_3520+?del http://identifiers.org/clinvar/188682 ^@ NM_001001430.2(TNNT2):c.170-11A>G http://identifiers.org/clinvar/188582 ^@ NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=) http://identifiers.org/clinvar/188532 ^@ NM_000256.3(MYBPC3):c.676_701dup26 (p.Gly235Serfs) http://identifiers.org/clinvar/188432 ^@ NM_000059.3(BRCA2):c.5926G>A (p.Gly1976Arg) http://identifiers.org/clinvar/188632 ^@ NM_000257.3(MYH7):c.4182C>T (p.Ala1394=) http://identifiers.org/clinvar/188482 ^@ NM_000152.4(GAA):c.2040+19_2040+20delCAinsTG http://identifiers.org/clinvar/189034 ^@ NM_000228.2(LAMB3):c.1978C>T (p.Arg660Ter) http://identifiers.org/clinvar/189084 ^@ NM_138694.3(PKHD1):c.10452dupT (p.Leu3485Serfs) http://identifiers.org/clinvar/188782 ^@ NM_000035.3(ALDOB):c.612T>A (p.Tyr204Ter) http://identifiers.org/clinvar/188832 ^@ NM_000050.4(ASS1):c.892delG (p.Glu298Argfs) http://identifiers.org/clinvar/188983 ^@ NM_024649.4(BBS1):c.1285C>T (p.Arg429Ter) http://identifiers.org/clinvar/188933 ^@ NM_000277.1(PAH):c.116_118delTCT (p.Phe39del) http://identifiers.org/clinvar/188883 ^@ NM_000053.3(ATP7B):c.2532delA (p.Val845Serfs) http://identifiers.org/clinvar/188732 ^@ NM_000053.3(ATP7B):c.2513delA (p.Lys838Serfs) http://identifiers.org/clinvar/189184 ^@ NM_000152.4(GAA):c.1438-1G>C http://identifiers.org/clinvar/189134 ^@ NM_000500.7:c.*28697405C>T http://identifiers.org/clinvar/189251 ^@ NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) http://identifiers.org/clinvar/189304 ^@ NM_000384.2(APOB):c.5066G>A (p.Arg1689His) http://identifiers.org/clinvar/189378 ^@ NM_007374.2(SIX6):c.110T>C (p.Leu37Pro) http://identifiers.org/clinvar/189524 ^@ NM_000314.6(PTEN):c.-733G>A http://identifiers.org/clinvar/189452 ^@ NM_000314.6(PTEN):c.771_772delCT (p.Phe258Profs) http://identifiers.org/clinvar/229039 ^@ NM_006393.2(NEBL):c.1028A>G (p.Tyr343Cys) http://identifiers.org/clinvar/229139 ^@ NM_033056.3(PCDH15):c.5033C>T (p.Ser1678Leu) http://identifiers.org/clinvar/228389 ^@ NM_033056.3(PCDH15):c.3358C>T (p.Arg1120Ter) http://identifiers.org/clinvar/227838 ^@ NM_033056.3(PCDH15):c.2092-6T>C http://identifiers.org/clinvar/228489 ^@ NM_022124.5(CDH23):c.3118G>T (p.Asp1040Tyr) http://identifiers.org/clinvar/228439 ^@ NM_014391.2(ANKRD1):c.347C>T (p.Thr116Met) http://identifiers.org/clinvar/227989 ^@ NM_005422.2(TECTA):c.2134G>C (p.Val712Leu) http://identifiers.org/clinvar/229089 ^@ NM_001277269.1(OTOG):c.371C>G (p.Ala124Gly) http://identifiers.org/clinvar/227458 ^@ NM_000218.2(KCNQ1):c.1047G>A (p.Ser349=) http://identifiers.org/clinvar/228839 ^@ NM_001145308.4(LRTOMT):c.729C>G (p.Asp243Glu) http://identifiers.org/clinvar/227157 ^@ NM_005691.3(ABCC9):c.1212C>T (p.Ser404=) http://identifiers.org/clinvar/228889 ^@ NM_002471.3(MYH6):c.2086C>T (p.Arg696Cys) http://identifiers.org/clinvar/227258 ^@ NM_004086.2(COCH):c.429A>G (p.Pro143=) http://identifiers.org/clinvar/228689 ^@ NM_000138.4(FBN1):c.8543A>C (p.Lys2848Thr) http://identifiers.org/clinvar/228939 ^@ NM_016239.3(MYO15A):c.10228G>C (p.Ala3410Pro) http://identifiers.org/clinvar/227508 ^@ NM_144612.6(LOXHD1):c.1162A>G (p.Ile388Val) http://identifiers.org/clinvar/228039 ^@ NM_001039141.2(TRIOBP):c.6039C>G (p.Pro2013=) http://identifiers.org/clinvar/227308 ^@ NM_004006.2(DMD):c.3270G>A (p.Gln1090=) http://identifiers.org/clinvar/228589 ^@ NM_004006.2(DMD):c.43G>C (p.Asp15His) http://identifiers.org/clinvar/228339 ^@ NM_001399.4(EDA):c.960T>G (p.Tyr320Ter) http://identifiers.org/clinvar/234465 ^@ NM_018136.4(ASPM):c.1154_1155delAG (p.Glu385Valfs) http://identifiers.org/clinvar/234293 ^@ NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met) http://identifiers.org/clinvar/234817 ^@ NM_000179.2(MSH6):c.4073_4080dupAGGAATTA (p.Ter1361Argfs) http://identifiers.org/clinvar/234567 ^@ NM_000249.3(MLH1):c.1520_1521insTA (p.Leu507Phefs) http://identifiers.org/clinvar/234767 ^@ NM_001148.4(ANK2):c.11525G>A (p.Arg3842Gln) http://identifiers.org/clinvar/234414 ^@ NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) http://identifiers.org/clinvar/234516 ^@ NM_000535.6(PMS2):c.566A>C (p.His189Pro) http://identifiers.org/clinvar/234868 ^@ NM_002485.4(NBN):c.897G>T (p.Arg299Ser) http://identifiers.org/clinvar/234345 ^@ NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) http://identifiers.org/clinvar/234918 ^@ NM_002180.2(IGHMBP2):c.1754A>G (p.Lys585Arg) http://identifiers.org/clinvar/234667 ^@ NM_000257.3(MYH7):c.1049A>G (p.Tyr350Cys) http://identifiers.org/clinvar/234617 ^@ NM_000214.2(JAG1):c.97G>A (p.Gly33Ser) http://identifiers.org/clinvar/234717 ^@ NM_001456.3(FLNA):c.7231C>T (p.Arg2411Ter) http://identifiers.org/clinvar/233730 ^@ NM_001128425.1(MUTYH):c.1353G>A (p.Leu451=) http://identifiers.org/clinvar/233933 ^@ NM_000251.2(MSH2):c.-68-211A>C http://identifiers.org/clinvar/234033 ^@ NM_000179.2(MSH6):c.1035T>A (p.Asn345Lys) http://identifiers.org/clinvar/231940 ^@ NM_000249.3(MLH1):c.917A>T (p.Asn306Ile) http://identifiers.org/clinvar/232190 ^@ NM_000249.3(MLH1):c.2206G>T (p.Glu736Ter) http://identifiers.org/clinvar/264482 ^@ NM_000891.2(KCNJ2):c.1259C>T (p.Pro420Leu) http://identifiers.org/clinvar/264582 ^@ NM_001456.3(FLNA):c.6912C>T (p.Asn2304=) http://identifiers.org/clinvar/264382 ^@ NM_005120.2(MED12):c.2982C>T (p.Ser994=) http://identifiers.org/clinvar/264696 ^@ NM_001017535.1(VDR):c.1171C>A (p.Arg391Ser) http://identifiers.org/clinvar/264747 ^@ NM_001242896.1(DEPDC5):c.4606C>T (p.Gln1536Ter) http://identifiers.org/clinvar/264902 ^@ NM_000059.3(BRCA2):c.7805+1641T>C http://identifiers.org/clinvar/264802 ^@ NM_007294.3(BRCA1):c.4358-722dup http://identifiers.org/clinvar/264852 ^@ NM_007294.3(BRCA1):c.594-650del http://identifiers.org/clinvar/265157 ^@ NM_002016.1(FLG):c.10324A>T (p.Arg3442Ter) http://identifiers.org/clinvar/265312 ^@ NM_133433.3(NIPBL):c.7861-2delA http://identifiers.org/clinvar/265261 ^@ NM_139276.2(STAT3):c.1979T>C (p.Met660Thr) http://identifiers.org/clinvar/265362 ^@ NM_007294.3(BRCA1):c.848_879del32 (p.Leu283Terfs) http://identifiers.org/clinvar/265208 ^@ NM_000219.5(KCNE1):c.262C>T (p.Gln88Ter) http://identifiers.org/clinvar/267023 ^@ NM_000059.3(BRCA2):c.757_758delAG (p.Ser253Terfs) http://identifiers.org/clinvar/267173 ^@ NM_000059.3(BRCA2):c.979A>T (p.Lys327Ter) http://identifiers.org/clinvar/266623 ^@ NM_000059.3(BRCA2):c.1285_1286dupTT (p.Leu429Phefs) http://identifiers.org/clinvar/266673 ^@ NM_000059.3(BRCA2):c.2023delA (p.Thr675Hisfs) http://identifiers.org/clinvar/266723 ^@ NM_000059.3(BRCA2):c.2847T>A (p.Tyr949Ter) http://identifiers.org/clinvar/266773 ^@ NM_000059.3(BRCA2):c.3812C>G (p.Ser1271Ter) http://identifiers.org/clinvar/266823 ^@ NM_000059.3(BRCA2):c.4638_4640delTGAinsGG (p.Phe1546Leufs) http://identifiers.org/clinvar/266873 ^@ NM_000059.3(BRCA2):c.5350_5351dupAA (p.Asn1784Lysfs) http://identifiers.org/clinvar/266923 ^@ NM_000059.3(BRCA2):c.6099delA (p.Arg2034Valfs) http://identifiers.org/clinvar/266973 ^@ NM_000059.3(BRCA2):c.6730A>T (p.Lys2244Ter) http://identifiers.org/clinvar/267073 ^@ NM_000059.3(BRCA2):c.8330delA (p.Lys2777Argfs) http://identifiers.org/clinvar/267123 ^@ NM_000059.3(BRCA2):c.8951C>A (p.Ser2984Ter) http://identifiers.org/clinvar/266523 ^@ NM_007294.3(BRCA1):c.5083_5084insG (p.Phe1695Cysfs) http://identifiers.org/clinvar/266473 ^@ NM_007294.3(BRCA1):c.4375A>T (p.Lys1459Ter) http://identifiers.org/clinvar/266423 ^@ NM_007294.3(BRCA1):c.3968_3971delAAAT (p.Gln1323Argfs) http://identifiers.org/clinvar/266373 ^@ NM_007294.3(BRCA1):c.3479_3483delAGGAA (p.Lys1160Argfs) http://identifiers.org/clinvar/266323 ^@ NM_007294.3(BRCA1):c.2960dupA (p.Ser988Valfs) http://identifiers.org/clinvar/266573 ^@ NM_007294.3(BRCA1):c.718C>T (p.Gln240Ter) http://identifiers.org/clinvar/267243 ^@ NM_015247.2(CYLD):c.1950-2_1953delAGATAT http://identifiers.org/clinvar/267318 ^@ NM_001065.3(TNFRSF1A):c.463C>T http://identifiers.org/clinvar/267391 ^@ c.103C>T http://identifiers.org/clinvar/267474 ^@ NC_000016.9:g.(88635000_88643461)_(89611494_89628950)del http://identifiers.org/clinvar/267630 ^@ NM_000059.3(BRCA2):c.-227-?_67+?del http://identifiers.org/clinvar/267680 ^@ NM_000059.3(BRCA2):c.7436-?_7805+?dup http://identifiers.org/clinvar/267580 ^@ NM_007294.3(BRCA1):c.5194-?_5277+?delinsG http://identifiers.org/clinvar/267530 ^@ NM_007294.3(BRCA1):c.4186-1787_4357+4122dup http://identifiers.org/clinvar/291316 ^@ NM_004006.2(DMD):c.9527A>G (p.Asp3176Gly) http://identifiers.org/clinvar/291418 ^@ NM_001918.3(DBT):c.*3869delT http://identifiers.org/clinvar/291468 ^@ NM_015074.3(KIF1B):c.363+6A>C http://identifiers.org/clinvar/291518 ^@ NM_001854.3(COL11A1):c.3297G>C (p.Gly1099=) http://identifiers.org/clinvar/291568 ^@ NM_015074.3(KIF1B):c.3285-15delA http://identifiers.org/clinvar/291710 ^@ NM_013296.4(GPSM2):c.2040A>G (p.Lys680=) http://identifiers.org/clinvar/292210 ^@ NM_005957.4(MTHFR):c.*1285T>G http://identifiers.org/clinvar/292260 ^@ NM_000198.3(HSD3B2):c.501G>A (p.Ala167=) http://identifiers.org/clinvar/292310 ^@ NM_006623.3(PHGDH):c.390C>T (p.Asp130=) http://identifiers.org/clinvar/292510 ^@ NM_004698.2(PRPF3):c.*154G>A http://identifiers.org/clinvar/292560 ^@ NM_019032.5(ADAMTSL4):c.2829G>A (p.Thr943=) http://identifiers.org/clinvar/292610 ^@ NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) http://identifiers.org/clinvar/292660 ^@ NM_152263.3(TPM3):c.*2565G>A http://identifiers.org/clinvar/292410 ^@ NM_014874.3(MFN2):c.*1640dupA http://identifiers.org/clinvar/292760 ^@ NM_001111.4(ADAR):c.3432C>G (p.Gly1144=) http://identifiers.org/clinvar/292160 ^@ NM_005957.4(MTHFR):c.*4290C>T http://identifiers.org/clinvar/292960 ^@ NM_003126.2(SPTA1):c.5911-3C>T http://identifiers.org/clinvar/293060 ^@ NM_003126.2(SPTA1):c.54G>A (p.Leu18=) http://identifiers.org/clinvar/293110 ^@ NM_002241.4(KCNJ10):c.*729G>C http://identifiers.org/clinvar/293210 ^@ NM_002857.3(PEX19):c.*1103C>T http://identifiers.org/clinvar/292810 ^@ NM_000298.5(PKLR):c.918C>A (p.His306Gln) http://identifiers.org/clinvar/292360 ^@ NM_000302.3(PLOD1):c.*528G>A http://identifiers.org/clinvar/293410 ^@ NM_004431.4(EPHA2):c.2463G>A (p.Leu821=) http://identifiers.org/clinvar/293010 ^@ NM_003126.2(SPTA1):c.2572A>G (p.Lys858Glu) http://identifiers.org/clinvar/292460 ^@ NM_005267.4(GJA8):c.-33C>T http://identifiers.org/clinvar/292910 ^@ NM_007272.2(CTRC):c.494-13A>G http://identifiers.org/clinvar/292710 ^@ NM_001111.4(ADAR):c.*2727dupA http://identifiers.org/clinvar/292860 ^@ NM_022367.3(SEMA4A):c.*37T>C http://identifiers.org/clinvar/293160 ^@ NM_000702.3(ATP1A2):c.*1026A>G http://identifiers.org/clinvar/293310 ^@ NM_000530.7(MPZ):c.*195G>T http://identifiers.org/clinvar/293260 ^@ NM_000309.3(PPOX):c.1303C>T (p.Gln435Ter) http://identifiers.org/clinvar/294149 ^@ NM_031935.2(HMCN1):c.4492G>A (p.Asp1498Asn) http://identifiers.org/clinvar/293360 ^@ NM_003001.3(SDHC):c.*1889T>C http://identifiers.org/clinvar/294249 ^@ NM_031935.2(HMCN1):c.12464G>C (p.Gly4155Ala) http://identifiers.org/clinvar/294299 ^@ NM_031935.2(HMCN1):c.15822T>C (p.Asp5274=) http://identifiers.org/clinvar/293460 ^@ NM_005149.2(TBX19):c.597T>C (p.Asn199=) http://identifiers.org/clinvar/294399 ^@ NM_003748.3(ALDH4A1):c.-37C>A http://identifiers.org/clinvar/293510 ^@ NM_006996.2(SLC19A2):c.*1524C>T http://identifiers.org/clinvar/294449 ^@ NM_024529.4(CDC73):c.*2427T>C http://identifiers.org/clinvar/294549 ^@ NM_030787.3(CFHR5):c.1350G>A (p.Gly450=) http://identifiers.org/clinvar/293560 ^@ NM_000130.4(F5):c.*581C>A http://identifiers.org/clinvar/294599 ^@ NM_018136.4(ASPM):c.9833T>C (p.Val3278Ala) http://identifiers.org/clinvar/294699 ^@ NM_000069.2(CACNA1S):c.*183C>T http://identifiers.org/clinvar/294749 ^@ NM_000069.2(CACNA1S):c.1949-6G>A http://identifiers.org/clinvar/294899 ^@ NM_003465.2(CHIT1):c.*782C>T http://identifiers.org/clinvar/294799 ^@ NM_001005337.2(PKP1):c.15G>T (p.Pro5=) http://identifiers.org/clinvar/344191 ^@ NM_198407.2(GHSR):c.*758G>A http://identifiers.org/clinvar/343541 ^@ NM_024334.2(TMEM43):c.*1677dupG http://identifiers.org/clinvar/344441 ^@ NM_006580.3(CLDN16):c.-6C>T http://identifiers.org/clinvar/336422 ^@ NM_002354.2(EPCAM):c.*362A>G http://identifiers.org/clinvar/336472 ^@ NM_000233.3(LHCGR):c.54G>A (p.Gln18=) http://identifiers.org/clinvar/343741 ^@ NM_032383.4(HPS3):c.*668dupT http://identifiers.org/clinvar/343791 ^@ NM_000096.3(CP):c.93G>A (p.Thr31=) http://identifiers.org/clinvar/343891 ^@ NM_005677.3(COLQ):c.-46G>A http://identifiers.org/clinvar/336265 ^@ NM_001430.4(EPAS1):c.1554+7G>A http://identifiers.org/clinvar/336672 ^@ NM_002618.3(PEX13):c.*90A>G http://identifiers.org/clinvar/343941 ^@ NM_024996.5(GFM1):c.*245A>C http://identifiers.org/clinvar/336315 ^@ NM_001430.4(EPAS1):c.*1290C>T http://identifiers.org/clinvar/336722 ^@ NM_032180.2(FAM161A):c.*802A>G http://identifiers.org/clinvar/336365 ^@ NM_139279.5(MCFD2):c.*1010G>T http://identifiers.org/clinvar/336822 ^@ NM_002056.3(GFPT1):c.*3090G>T http://identifiers.org/clinvar/344091 ^@ NM_000055.3(BCHE):c.1327A>C (p.Asn443His) http://identifiers.org/clinvar/344141 ^@ NM_000340.1(SLC2A2):c.*1059delT http://identifiers.org/clinvar/336522 ^@ NM_001135659.2(NRXN1):c.*1237_*1246delACACACACAC http://identifiers.org/clinvar/336922 ^@ NM_001692.3(ATP6V1B1):c.1023C>T (p.Ser341=) http://identifiers.org/clinvar/336972 ^@ NM_003494.3(DYSF):c.4410+7T>C http://identifiers.org/clinvar/336772 ^@ NM_015910.5(WDPCP):c.-96_-94dupGCG http://identifiers.org/clinvar/337072 ^@ NM_004082.4(DCTN1):c.3519C>T (p.Arg1173=) http://identifiers.org/clinvar/336872 ^@ NM_002056.3(GFPT1):c.2002-10delC http://identifiers.org/clinvar/345880 ^@ NM_000094.3(COL7A1):c.810G>A (p.Thr270=) http://identifiers.org/clinvar/337172 ^@ NM_000821.6(GGCX):c.*4995dupA http://identifiers.org/clinvar/345530 ^@ NM_024513.3(FYCO1):c.1098C>T (p.Ala366=) http://identifiers.org/clinvar/345630 ^@ NM_015175.2(NBEAL2):c.1618C>T (p.Arg540Trp) http://identifiers.org/clinvar/345780 ^@ NM_033629.4(TREX1):c.*37T>C http://identifiers.org/clinvar/345930 ^@ NM_002222.5(ITPR1):c.*1533G>A http://identifiers.org/clinvar/343091 ^@ NM_002880.3(RAF1):c.*745_*748dupAACA http://identifiers.org/clinvar/343041 ^@ NM_000373.3(UMPS):c.*4895A>G http://identifiers.org/clinvar/343341 ^@ NM_014382.3(ATP2C1):c.*946T>G http://identifiers.org/clinvar/343441 ^@ NM_001063.3(TF):c.887A>G (p.Asp296Gly) http://identifiers.org/clinvar/343841 ^@ NM_005677.3(COLQ):c.*257G>A http://identifiers.org/clinvar/343641 ^@ NM_000935.2(PLOD2):c.*171T>G http://identifiers.org/clinvar/361995 ^@ NM_003235.4(TG):c.7573-5delT http://identifiers.org/clinvar/354257 ^@ NM_000046.3(ARSB):c.*3181T>A http://identifiers.org/clinvar/354357 ^@ NM_002454.2(MTRR):c.869T>C (p.Ile290Thr) http://identifiers.org/clinvar/354107 ^@ NM_022132.4(MCCC2):c.*260T>A http://identifiers.org/clinvar/354157 ^@ NM_003719.3(PDE8B):c.1152T>C (p.Thr384=) http://identifiers.org/clinvar/354307 ^@ NM_000046.3(ARSB):c.1362G>A (p.Pro454=) http://identifiers.org/clinvar/362695 ^@ NM_000742.3(CHRNA2):c.1099C>T (p.Arg367Trp) http://identifiers.org/clinvar/354407 ^@ NM_004385.4(VCAN):c.2542G>A (p.Glu848Lys) http://identifiers.org/clinvar/354607 ^@ NM_002397.4(MEF2C):c.-528_-526delCCT http://identifiers.org/clinvar/354457 ^@ NM_004385.4(VCAN):c.8338C>T (p.Leu2780=) http://identifiers.org/clinvar/354507 ^@ NM_002890.2(RASA1):c.260C>G (p.Thr87Arg) http://identifiers.org/clinvar/354557 ^@ NM_002397.4(MEF2C):c.*3142A>G http://identifiers.org/clinvar/354807 ^@ NM_007214.4(SEC63):c.*3895T>C http://identifiers.org/clinvar/354757 ^@ NM_020381.3(PDSS2):c.*774C>G http://identifiers.org/clinvar/354957 ^@ NM_014028.3(OSTM1):c.*1469G>A http://identifiers.org/clinvar/359546 ^@ NM_001101426.3(ISPD):c.*2149A>C http://identifiers.org/clinvar/364234 ^@ NM_014425.4(INVS):c.3027C>T (p.His1009=) http://identifiers.org/clinvar/355647 ^@ NM_003764.3(STX11):c.*3214C>G http://identifiers.org/clinvar/355697 ^@ NM_203395.2(IYD):c.*571G>A http://identifiers.org/clinvar/360496 ^@ NM_004577.3(PSPH):c.*371A>G http://identifiers.org/clinvar/355797 ^@ NM_033071.3(SYNE1):c.*580delT http://identifiers.org/clinvar/360596 ^@ NM_153033.4(KCTD7):c.*837A>G http://identifiers.org/clinvar/356097 ^@ NM_000367.4(TPMT):c.*1285G>A http://identifiers.org/clinvar/364784 ^@ NM_018249.5(CDK5RAP2):c.506A>C (p.Lys169Thr) http://identifiers.org/clinvar/356147 ^@ NM_001080.3(ALDH5A1):c.*318C>T http://identifiers.org/clinvar/355847 ^@ NM_033071.3(SYNE1):c.18451A>G (p.Thr6151Ala) http://identifiers.org/clinvar/355997 ^@ NM_004562.2(PRKN):c.*1386A>G http://identifiers.org/clinvar/356297 ^@ NM_001710.5(CFB):c.*23C>T http://identifiers.org/clinvar/360746 ^@ NM_001001547.2(CD36):c.-208C>T http://identifiers.org/clinvar/365184 ^@ NM_001130438.2(SPTAN1):c.*46C>T http://identifiers.org/clinvar/365234 ^@ NM_000113.2(TOR1A):c.26G>C (p.Gly9Ala) http://identifiers.org/clinvar/356347 ^@ NM_006929.4(SKIV2L):c.3213G>A (p.Ala1071=) http://identifiers.org/clinvar/356397 ^@ NM_080680.2(COL11A2):c.2735T>C (p.Val912Ala) http://identifiers.org/clinvar/356797 ^@ NM_000287.3(PEX6):c.1234-7_1234-6dupTT http://identifiers.org/clinvar/356647 ^@ NM_005943.5(MOCS1):c.*224A>T http://identifiers.org/clinvar/356747 ^@ NM_000322.4(PRPH2):c.*1524G>C http://identifiers.org/clinvar/361486 ^@ NM_001715.2(BLK):c.753A>G (p.Gln251=) http://identifiers.org/clinvar/356997 ^@ NM_006502.2(POLH):c.*4511T>C http://identifiers.org/clinvar/356847 ^@ NM_014780.4(CUL7):c.1664C>T (p.Ala555Val) http://identifiers.org/clinvar/357047 ^@ NM_020745.3(AARS2):c.*394C>A http://identifiers.org/clinvar/361845 ^@ NM_004519.3(KCNQ3):c.*2010T>A http://identifiers.org/clinvar/303176 ^@ NM_018400.3(SCN3B):c.*1151G>A http://identifiers.org/clinvar/303226 ^@ NM_022370.3(ROBO3):c.716C>T (p.Ser239Phe) http://identifiers.org/clinvar/366774 ^@ NM_003289.3(TPM2):c.-158C>A http://identifiers.org/clinvar/367353 ^@ NM_033305.2(VPS13A):c.1396C>T (p.Leu466Phe) http://identifiers.org/clinvar/366874 ^@ NM_016042.3(EXOSC3):c.*402C>T http://identifiers.org/clinvar/366924 ^@ NM_001042413.1(GLIS3):c.*1901G>C http://identifiers.org/clinvar/366974 ^@ NM_203447.3(DOCK8):c.3312G>C (p.Glu1104Asp) http://identifiers.org/clinvar/303676 ^@ NM_014384.2(ACAD8):c.432A>G (p.Lys144=) http://identifiers.org/clinvar/367653 ^@ NM_000264.3(PTCH1):c.*780C>T http://identifiers.org/clinvar/303776 ^@ NM_000352.4(ABCC8):c.2117-10C>A http://identifiers.org/clinvar/304026 ^@ NM_004211.4(SLC6A5):c.1499+15T>C http://identifiers.org/clinvar/304076 ^@ NM_000360.3(TH):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/312324 ^@ NM_024570.3(RNASEH2B):c.-210G>C http://identifiers.org/clinvar/367503 ^@ NM_004560.3(ROR2):c.1552C>T (p.Arg518Trp) http://identifiers.org/clinvar/312674 ^@ NM_022489.3(INF2):c.-50G>A http://identifiers.org/clinvar/298998 ^@ NM_000141.4(FGFR2):c.1774C>T (p.Arg592Cys) http://identifiers.org/clinvar/313124 ^@ NM_001079668.2(NKX2-1):c.*579C>G http://identifiers.org/clinvar/299098 ^@ NM_001609.3(ACADSB):c.*206A>C http://identifiers.org/clinvar/304665 ^@ NM_021926.3(ALX4):c.*1157C>A http://identifiers.org/clinvar/304865 ^@ NM_002334.3(LRP4):c.3818G>C (p.Arg1273Pro) http://identifiers.org/clinvar/305065 ^@ NM_016464.4(TMEM138):c.387G>A (p.Leu129=) http://identifiers.org/clinvar/299148 ^@ NM_001609.3(ACADSB):c.*3470T>C http://identifiers.org/clinvar/299198 ^@ NM_000375.2(UROS):c.-185G>A http://identifiers.org/clinvar/299248 ^@ NM_006214.3(PHYH):c.678+15C>T http://identifiers.org/clinvar/305317 ^@ NM_130799.2(MEN1):c.-35A>T http://identifiers.org/clinvar/299298 ^@ NM_001033855.2(DCLRE1C):c.*530A>C http://identifiers.org/clinvar/305567 ^@ NM_006946.2(SPTBN2):c.3194G>A (p.Arg1065Gln) http://identifiers.org/clinvar/314613 ^@ NM_004863.3(SPTLC2):c.*3034C>G http://identifiers.org/clinvar/300087 ^@ NM_000124.3(ERCC6):c.1158C>G (p.Asp386Glu) http://identifiers.org/clinvar/314763 ^@ NM_000153.3(GALC):c.41C>G (p.Ala14Gly) http://identifiers.org/clinvar/314913 ^@ NM_004239.4(TRIP11):c.*387delC http://identifiers.org/clinvar/315013 ^@ NM_000295.4(SERPINA1):c.*678C>T http://identifiers.org/clinvar/306017 ^@ NM_001145308.4(LRTOMT):c.*1400dupC http://identifiers.org/clinvar/315113 ^@ NM_177438.2(DICER1):c.773G>T (p.Gly258Val) http://identifiers.org/clinvar/300437 ^@ NM_022124.5(CDH23):c.4857C>T (p.His1619=) http://identifiers.org/clinvar/306280 ^@ NM_024698.5(SLC25A22):c.-207G>C http://identifiers.org/clinvar/299987 ^@ NM_002900.2(RBP3):c.1146T>G (p.Asp382Glu) http://identifiers.org/clinvar/300587 ^@ NM_004273.4(CHST3):c.*887A>G http://identifiers.org/clinvar/306331 ^@ NM_012193.3(FZD4):c.*4867A>G http://identifiers.org/clinvar/300787 ^@ NM_014000.2(VCL):c.1287T>A (p.Asp429Glu) http://identifiers.org/clinvar/300237 ^@ NM_000417.2(IL2RA):c.*884C>T http://identifiers.org/clinvar/315213 ^@ NM_139057.3(ADAMTS17):c.*802G>A http://identifiers.org/clinvar/317753 ^@ NM_004862.3(LITAF):c.*1627G>A http://identifiers.org/clinvar/329375 ^@ NM_000709.3(BCKDHA):c.*324G>A http://identifiers.org/clinvar/329425 ^@ NM_152296.4(ATP1A3):c.607-7C>A http://identifiers.org/clinvar/317903 ^@ NM_001287.5(CLCN7):c.*1645G>C http://identifiers.org/clinvar/317953 ^@ NM_001287.5(CLCN7):c.921G>A (p.Gly307=) http://identifiers.org/clinvar/311524 ^@ NM_014363.5(SACS):c.7647T>G (p.Leu2549=) http://identifiers.org/clinvar/311574 ^@ NM_014363.5(SACS):c.47G>T (p.Gly16Val) http://identifiers.org/clinvar/311824 ^@ NM_001127217.2(SMAD9):c.*3558_*3561delTATA http://identifiers.org/clinvar/330275 ^@ NM_000064.3(C3):c.4767G>A (p.Lys1589=) http://identifiers.org/clinvar/318694 ^@ NM_020705.2(TBC1D24):c.*3750C>T http://identifiers.org/clinvar/312074 ^@ NM_207361.5(FREM2):c.*2722T>C http://identifiers.org/clinvar/330525 ^@ NM_006702.4(PNPLA6):c.1911G>A (p.Lys637=) http://identifiers.org/clinvar/312124 ^@ NM_020751.2(COG6):c.-67A>T http://identifiers.org/clinvar/318944 ^@ NM_000294.2(PHKG2):c.*539C>T http://identifiers.org/clinvar/338011 ^@ NM_006899.4(IDH3B):c.1132G>A (p.Gly378Ser) http://identifiers.org/clinvar/338261 ^@ NM_032034.3(SLC4A11):c.137G>T (p.Ser46Ile) http://identifiers.org/clinvar/338061 ^@ NM_015338.5(ASXL1):c.-392G>A http://identifiers.org/clinvar/319595 ^@ NM_002968.2(SALL1):c.3947A>G (p.Glu1316Gly) http://identifiers.org/clinvar/312574 ^@ NM_005708.4(GPC6):c.*1225C>G http://identifiers.org/clinvar/319645 ^@ NM_015272.4(RPGRIP1L):c.*55T>A http://identifiers.org/clinvar/312624 ^@ NM_001376.4(DYNC1H1):c.2672A>G (p.His891Arg) http://identifiers.org/clinvar/319745 ^@ NM_004530.5(MMP2):c.-2C>A http://identifiers.org/clinvar/319795 ^@ NM_001043.3(SLC6A2):c.407-12G>A http://identifiers.org/clinvar/312774 ^@ NM_001145.4(ANG):c.250A>G (p.Lys84Glu) http://identifiers.org/clinvar/338511 ^@ NM_000022.3(ADA):c.-10C>G http://identifiers.org/clinvar/319995 ^@ NM_000078.2(CETP):c.1215-14C>T http://identifiers.org/clinvar/338561 ^@ NM_004994.2(MMP9):c.2082G>A (p.Val694=) http://identifiers.org/clinvar/320045 ^@ NM_001297.4(CNGB1):c.*493C>T http://identifiers.org/clinvar/320095 ^@ NM_001297.4(CNGB1):c.1435C>A (p.Leu479Ile) http://identifiers.org/clinvar/311624 ^@ NM_018451.4(CENPJ):c.865+12dupA http://identifiers.org/clinvar/313224 ^@ NM_020937.3(FANCM):c.5097A>G (p.Lys1699=) http://identifiers.org/clinvar/311674 ^@ NM_000059.3(BRCA2):c.*696G>A http://identifiers.org/clinvar/339112 ^@ NM_001001433.2(STX16):c.*3175_*3176delTT http://identifiers.org/clinvar/311924 ^@ NM_001127217.2(SMAD9):c.-282C>T http://identifiers.org/clinvar/339312 ^@ NM_001853.3(COL9A3):c.*118C>T http://identifiers.org/clinvar/312024 ^@ NM_207361.5(FREM2):c.8160A>C (p.Pro2720=) http://identifiers.org/clinvar/314063 ^@ NM_031427.3(DNAL1):c.*2570delT http://identifiers.org/clinvar/312374 ^@ NM_000053.3(ATP7B):c.*190C>A http://identifiers.org/clinvar/312424 ^@ NM_001004127.2(ALG11):c.*940A>C http://identifiers.org/clinvar/314163 ^@ NM_005589.3(ALDH6A1):c.*309G>A http://identifiers.org/clinvar/312524 ^@ NM_052910.2(SLITRK1):c.-696A>G http://identifiers.org/clinvar/368003 ^@ NM_000133.3(F9):c.1110G>A (p.Gln370=) http://identifiers.org/clinvar/368203 ^@ NM_004006.2(DMD):c.*2039C>A http://identifiers.org/clinvar/327386 ^@ NM_000140.3(FECH):c.*2060C>T http://identifiers.org/clinvar/327536 ^@ NM_013435.2(RAX):c.118G>C (p.Gly40Arg) http://identifiers.org/clinvar/329325 ^@ NM_003573.2(LTBP4):c.3419G>A (p.Gly1140Glu) http://identifiers.org/clinvar/329725 ^@ NM_000554.5(CRX):c.*809C>G http://identifiers.org/clinvar/328036 ^@ NM_001128849.1(SMARCA4):c.4110C>T (p.Gly1370=) http://identifiers.org/clinvar/328086 ^@ NM_000527.4(LDLR):c.*1168G>A http://identifiers.org/clinvar/328186 ^@ NM_002743.3(PRKCSH):c.914C>T (p.Pro305Leu) http://identifiers.org/clinvar/330125 ^@ NM_024075.4(TSEN34):c.183C>A (p.Ala61=) http://identifiers.org/clinvar/330175 ^@ NM_206828.3(NLRP7):c.977A>T (p.Glu326Val) http://identifiers.org/clinvar/328286 ^@ NM_006397.2(RNASEH2A):c.-49C>T http://identifiers.org/clinvar/330225 ^@ NM_001015878.1(AURKC):c.-128C>T http://identifiers.org/clinvar/328336 ^@ NM_024407.4(NDUFS7):c.21T>C (p.Pro7=) http://identifiers.org/clinvar/328386 ^@ NM_000435.2(NOTCH3):c.4427C>T (p.Ala1476Val) http://identifiers.org/clinvar/329225 ^@ NM_017827.3(SARS2):c.175G>C (p.Asp59His) http://identifiers.org/clinvar/338161 ^@ NM_006892.3(DNMT3B):c.1035C>T (p.Ile345=) http://identifiers.org/clinvar/329275 ^@ NM_181882.2(PRX):c.1568T>C (p.Leu523Pro) http://identifiers.org/clinvar/338411 ^@ NM_005461.4(MAFB):c.253C>A (p.Leu85Met) http://identifiers.org/clinvar/338611 ^@ NM_030777.3(SLC2A10):c.*472dupT http://identifiers.org/clinvar/329675 ^@ NM_025136.3(OPA3):c.*420A>G http://identifiers.org/clinvar/338912 ^@ NM_002591.3(PCK1):c.*386_*393delTGTGTGTG http://identifiers.org/clinvar/329825 ^@ NM_002103.4(GYS1):c.417C>T (p.Ile139=) http://identifiers.org/clinvar/329875 ^@ NM_017636.3(TRPM4):c.*84C>T http://identifiers.org/clinvar/339012 ^@ NM_004738.4(VAPB):c.*5790G>A http://identifiers.org/clinvar/339062 ^@ NM_001001433.2(STX16):c.*173C>G http://identifiers.org/clinvar/329925 ^@ NM_024729.3(MYH14):c.2818G>A (p.Val940Met) http://identifiers.org/clinvar/329975 ^@ NM_030657.3(LIM2):c.203G>A (p.Arg68His) http://identifiers.org/clinvar/330025 ^@ NM_144687.3(NLRP12):c.2165G>A (p.Arg722Gln) http://identifiers.org/clinvar/339362 ^@ NM_025219.2(DNAJC5):c.*195G>A http://identifiers.org/clinvar/339412 ^@ NM_025219.2(DNAJC5):c.*2765_*2770delTTTGCT http://identifiers.org/clinvar/330325 ^@ NM_000064.3(C3):c.1407G>C (p.Glu469Asp) http://identifiers.org/clinvar/330575 ^@ NM_030957.3(ADAMTS10):c.*36T>C http://identifiers.org/clinvar/338111 ^@ NM_015338.5(ASXL1):c.3612C>G (p.Cys1204Trp) http://identifiers.org/clinvar/338311 ^@ NM_000557.4(GDF5):c.*389C>T http://identifiers.org/clinvar/338361 ^@ NM_153638.3(PANK2):c.628+15G>C http://identifiers.org/clinvar/338711 ^@ NM_006420.2(ARFGEF2):c.*141G>A http://identifiers.org/clinvar/340902 ^@ NM_004782.3(SNAP29):c.*3171G>A http://identifiers.org/clinvar/339162 ^@ NM_207034.2(EDN3):c.*1398C>T http://identifiers.org/clinvar/339262 ^@ NM_001853.3(COL9A3):c.12G>A (p.Pro4=) http://identifiers.org/clinvar/341252 ^@ NM_000343.3(SLC5A1):c.1231G>A (p.Ala411Thr) http://identifiers.org/clinvar/341452 ^@ NM_004737.5(LARGE1):c.-422C>G http://identifiers.org/clinvar/341502 ^@ NM_002473.5(MYH9):c.4359G>A (p.Glu1453=) http://identifiers.org/clinvar/341552 ^@ NM_013416.3(NCF4):c.271+6C>T http://identifiers.org/clinvar/341602 ^@ NM_153609.3(TMPRSS6):c.438A>G (p.Gly146=) http://identifiers.org/clinvar/341702 ^@ NM_022098.3(XPNPEP3):c.*1696G>A http://identifiers.org/clinvar/341752 ^@ NM_022098.3(XPNPEP3):c.*5327A>C http://identifiers.org/clinvar/341852 ^@ NM_001429.3(EP300):c.*922_*930delACTCACACAinsC http://identifiers.org/clinvar/341902 ^@ NM_000262.2(NAGA):c.*143C>T http://identifiers.org/clinvar/341952 ^@ NM_025225.2(PNPLA3):c.*429T>C http://identifiers.org/clinvar/392681 ^@ NM_016203.3(PRKAG2):c.92G>T (p.Arg31Leu) http://identifiers.org/clinvar/390992 ^@ NM_020549.4(CHAT):c.387T>C (p.Ser129=) http://identifiers.org/clinvar/381810 ^@ NM_001540.3(HSPB1):c.-15G>A http://identifiers.org/clinvar/381659 ^@ NM_207122.1(EXT2):c.626+1G>T http://identifiers.org/clinvar/379466 ^@ NM_001134363.2(RBM20):c.1172T>C (p.Val391Ala) http://identifiers.org/clinvar/390442 ^@ NM_016938.4(EFEMP2):c.139C>T (p.Pro47Ser) http://identifiers.org/clinvar/388803 ^@ NM_020975.4(RET):c.3040-20C>T http://identifiers.org/clinvar/385154 ^@ NM_001080449.2(DNA2):c.264T>C (p.Ser88=) http://identifiers.org/clinvar/391342 ^@ NM_030962.3(SBF2):c.3652+6C>T http://identifiers.org/clinvar/392981 ^@ NM_000051.3(ATM):c.3154-7C>T http://identifiers.org/clinvar/385404 ^@ NM_213595.3(ISCU):c.165A>G (p.Thr55=) http://identifiers.org/clinvar/393131 ^@ NM_000017.3(ACADS):c.449G>T (p.Gly150Val) http://identifiers.org/clinvar/388903 ^@ NM_000051.3(ATM):c.6452+9A>C http://identifiers.org/clinvar/379416 ^@ NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) http://identifiers.org/clinvar/392831 ^@ NM_001018116.2(CAVIN4):c.598A>G (p.Lys200Glu) http://identifiers.org/clinvar/380607 ^@ NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) http://identifiers.org/clinvar/391442 ^@ NM_003476.4(CSRP3):c.-117-119G>C http://identifiers.org/clinvar/380657 ^@ NM_000051.3(ATM):c.8151+3G>A http://identifiers.org/clinvar/392431 ^@ NM_000218.2(KCNQ1):c.1589A>C (p.Gln530Pro) http://identifiers.org/clinvar/381709 ^@ NM_001382.3(DPAGT1):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/383252 ^@ NM_001843.3(CNTN1):c.147T>C (p.Asn49=) http://identifiers.org/clinvar/378664 ^@ NM_001130438.2(SPTAN1):c.6689+17G>A http://identifiers.org/clinvar/390942 ^@ NM_004517.3(ILK):c.1079-14C>A http://identifiers.org/clinvar/378766 ^@ NM_000368.4(TSC1):c.1113C>T (p.His371=) http://identifiers.org/clinvar/378564 ^@ NM_014191.3(SCN8A):c.*8C>T http://identifiers.org/clinvar/380808 ^@ NM_024698.5(SLC25A22):c.54C>T (p.Ala18=) http://identifiers.org/clinvar/381759 ^@ NM_006755.1(TALDO1):c.574C>T (p.Arg192Cys) http://identifiers.org/clinvar/392381 ^@ NM_024698.5(SLC25A22):c.87C>T (p.Ile29=) http://identifiers.org/clinvar/391092 ^@ NM_003850.2(SUCLA2):c.964+17T>C http://identifiers.org/clinvar/385454 ^@ NM_006231.3(POLE):c.4863C>G (p.Val1621=) http://identifiers.org/clinvar/385954 ^@ NM_006231.3(POLE):c.4445-7T>C http://identifiers.org/clinvar/392531 ^@ NM_144670.5(A2ML1):c.1683+6A>G http://identifiers.org/clinvar/384804 ^@ NM_201590.2(CACNB2):c.-200107C>T http://identifiers.org/clinvar/379716 ^@ NM_033056.3(PCDH15):c.3984-1G>C http://identifiers.org/clinvar/381609 ^@ NM_000138.4(FBN1):c.8002G>T (p.Gly2668Cys) http://identifiers.org/clinvar/380858 ^@ NM_000059.3(BRCA2):c.9118-10T>C http://identifiers.org/clinvar/380959 ^@ NM_000059.3(BRCA2):c.9649-13A>G http://identifiers.org/clinvar/382261 ^@ NM_000138.4(FBN1):c.3464-19C>G http://identifiers.org/clinvar/391242 ^@ NM_000282.3(PCCA):c.1430-18A>T http://identifiers.org/clinvar/392481 ^@ NM_207036.1(TCF12):c.1036-1G>T http://identifiers.org/clinvar/381009 ^@ NM_000051.3(ATM):c.2175C>T (p.Val725=) http://identifiers.org/clinvar/385704 ^@ NM_001271.3(CHD2):c.1773A>G (p.Ala591=) http://identifiers.org/clinvar/388953 ^@ NM_001376.4(DYNC1H1):c.11460+12G>A http://identifiers.org/clinvar/379216 ^@ NM_001171.5(ABCC6):c.1248C>T (p.Asp416=) http://identifiers.org/clinvar/390292 ^@ NM_022489.3(INF2):c.2433C>T (p.Ser811=) http://identifiers.org/clinvar/383302 ^@ NM_000257.3(MYH7):c.346-17T>C http://identifiers.org/clinvar/388653 ^@ NM_001876.3(CPT1A):c.192C>T (p.Ile64=) http://identifiers.org/clinvar/391542 ^@ NM_030962.3(SBF2):c.1860+10A>G http://identifiers.org/clinvar/392331 ^@ NM_001127464.2(ZNF469):c.9950G>A (p.Arg3317His) http://identifiers.org/clinvar/391642 ^@ NM_005477.2(HCN4):c.1401C>T (p.Tyr467=) http://identifiers.org/clinvar/384604 ^@ NM_000833.4(GRIN2A):c.3882C>T (p.Asn1294=) http://identifiers.org/clinvar/633 ^@ NM_000277.1(PAH):c.1065+3A>G http://identifiers.org/clinvar/642 ^@ NM_000130.4(F5):c.1601G>A (p.Arg534Gln) http://identifiers.org/clinvar/874 ^@ NM_006953.3(UPK3A):c.*107T>C http://identifiers.org/clinvar/883 ^@ NM_000046.3(ARSB):c.215T>A (p.Leu72Gln) http://identifiers.org/clinvar/892 ^@ NM_001008388.4(CISD2):c.109G>C (p.Glu37Gln) http://identifiers.org/clinvar/915 ^@ NM_000067.2(CA2):c.707C>A (p.Pro236His) http://identifiers.org/clinvar/934 ^@ NM_000404.3(GLB1):c.256_278dup23 (p.Gln95Thrfs) http://identifiers.org/clinvar/948 ^@ NM_000404.3(GLB1):c.1772A>G (p.Tyr591Cys) http://identifiers.org/clinvar/1006 ^@ NM_152778.2(MFSD8):c.881C>A (p.Thr294Lys) http://identifiers.org/clinvar/1015 ^@ NM_139241.3(FGD4):c.893T>C (p.Met298Thr) http://identifiers.org/clinvar/1024 ^@ NM_020223.3(FAM20C):c.1163T>G (p.Leu388Arg) http://identifiers.org/clinvar/1033 ^@ NM_015559.2(SETBP1):c.2603A>C (p.Asp868Ala) http://identifiers.org/clinvar/1119 ^@ NM_017875.2(SLC25A38):c.324_325delCT (p.Tyr109Leufs) http://identifiers.org/clinvar/1128 ^@ SLC35D1, 4.9-KB DEL, EX7 http://identifiers.org/clinvar/1150 ^@ NM_001178007.1(BBS12):c.865G>C (p.Ala289Pro) http://identifiers.org/clinvar/1196 ^@ MARVELD2, 4-BP DEL, IVS4+2TGAG http://identifiers.org/clinvar/1240 ^@ NM_032753.3(RAX2):c.260G>A (p.Arg87Gln) http://identifiers.org/clinvar/1291 ^@ NM_018006.4(TRMU):c.229T>C (p.Tyr77His) http://identifiers.org/clinvar/10195 ^@ NM_000132.3(F8):c.923C>T (p.Ser308Leu) http://identifiers.org/clinvar/10285 ^@ F8, IVS16DS, G-A, -1 http://identifiers.org/clinvar/10377 ^@ NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) http://identifiers.org/clinvar/163548 ^@ NM_000169.2(GLA):c.196G>C (p.Glu66Gln) http://identifiers.org/clinvar/10963 ^@ NR0B1, 2-BP DEL, 388AG http://identifiers.org/clinvar/11008 ^@ NM_000531.5(OTC):c.912G>T (p.Leu304Phe) http://identifiers.org/clinvar/11053 ^@ NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) http://identifiers.org/clinvar/11099 ^@ NM_001128834.2(PLP1):c.169G>T (p.Asp57Tyr) http://identifiers.org/clinvar/11143 ^@ NM_182680.1(AMELX):c.541delC (p.Leu181Cysfs) http://identifiers.org/clinvar/11234 ^@ DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1 http://identifiers.org/clinvar/11370 ^@ BTK, IVS12AS, A-T, -2 http://identifiers.org/clinvar/12135 ^@ NM_000387.5(SLC25A20):c.496C>T (p.Arg166Ter) http://identifiers.org/clinvar/36636 ^@ NM_000257.3(MYH7):c.2585C>T (p.Ala862Val) http://identifiers.org/clinvar/36688 ^@ NM_000535.6(PMS2):c.2253T>C (p.Phe751=) http://identifiers.org/clinvar/36741 ^@ NM_001035.2(RYR2):c.3599-9delT http://identifiers.org/clinvar/36792 ^@ STAT3:c.469-34_469-30del http://identifiers.org/clinvar/36842 ^@ NM_000458.3(HNF1B):c.1654-11_1654-9delTCTinsC http://identifiers.org/clinvar/36893 ^@ NM_080911.2(UNG):c.*70_*71delAA http://identifiers.org/clinvar/36962 ^@ NM_002501.3(NFIX):c.994dupT (p.Cys332Leufs) http://identifiers.org/clinvar/37061 ^@ NM_015631.5(TCTN3):c.940G>A (p.Gly314Arg) http://identifiers.org/clinvar/37131 ^@ NM_004984.2(KIF5A):c.704G>A (p.Gly235Glu) http://identifiers.org/clinvar/37263 ^@ NM_003036.3(SKI):c.283_291delGACCGCTCC (p.Asp95_Ser97del) http://identifiers.org/clinvar/37353 ^@ NM_000155.3(GALT):c.950A>G (p.Gln317Arg) http://identifiers.org/clinvar/37418 ^@ NM_007294.3(BRCA1):c.1510delC (p.Arg504Valfs) http://identifiers.org/clinvar/37470 ^@ NM_007294.3(BRCA1):c.2447A>G (p.His816Arg) http://identifiers.org/clinvar/37528 ^@ NM_007294.3(BRCA1):c.3389C>G (p.Ser1130Ter) http://identifiers.org/clinvar/37581 ^@ NM_007294.3(BRCA1):c.427G>T (p.Glu143Ter) http://identifiers.org/clinvar/37633 ^@ NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) http://identifiers.org/clinvar/37689 ^@ NM_007294.3(BRCA1):c.641A>G (p.Asp214Gly) http://identifiers.org/clinvar/38004 ^@ NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn) http://identifiers.org/clinvar/38059 ^@ NM_000059.3(BRCA2):c.6641dupC (p.Tyr2215Leufs) http://identifiers.org/clinvar/38109 ^@ NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) http://identifiers.org/clinvar/38159 ^@ NM_000059.3(BRCA2):c.8414_8416delTATinsC (p.Leu2805Serfs) http://identifiers.org/clinvar/51252 ^@ NM_000059.3(BRCA2):c.215delAinsTT (p.Asn72Ilefs) http://identifiers.org/clinvar/51302 ^@ NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) http://identifiers.org/clinvar/51353 ^@ NM_000059.3(BRCA2):c.2813C>A (p.Ala938Glu) http://identifiers.org/clinvar/51403 ^@ NM_000059.3(BRCA2):c.3137A>G (p.Glu1046Gly) http://identifiers.org/clinvar/51712 ^@ NM_000059.3(BRCA2):c.476-9delT http://identifiers.org/clinvar/51762 ^@ NM_000059.3(BRCA2):c.5073delA (p.Lys1691Asnfs) http://identifiers.org/clinvar/51814 ^@ NM_000059.3(BRCA2):c.51_52delAC (p.Arg18Leufs) http://identifiers.org/clinvar/51867 ^@ NM_000059.3(BRCA2):c.5467A>C (p.Lys1823Gln) http://identifiers.org/clinvar/51920 ^@ NM_000059.3(BRCA2):c.572A>G (p.Asp191Gly) http://identifiers.org/clinvar/51971 ^@ NM_000059.3(BRCA2):c.5952dupA (p.Ser1985Ilefs) http://identifiers.org/clinvar/52022 ^@ NM_000059.3(BRCA2):c.6164delT (p.Phe2055Serfs) http://identifiers.org/clinvar/52074 ^@ NM_000059.3(BRCA2):c.6362A>G (p.Glu2121Gly) http://identifiers.org/clinvar/52127 ^@ NM_000059.3(BRCA2):c.6553delG (p.Ala2185Leufs) http://identifiers.org/clinvar/52178 ^@ NM_000059.3(BRCA2):c.6761_6762delTT (p.Phe2254Tyrfs) http://identifiers.org/clinvar/52228 ^@ NM_000059.3(BRCA2):c.6959delT (p.Leu2320Cysfs) http://identifiers.org/clinvar/52280 ^@ NM_000059.3(BRCA2):c.7182A>G (p.Arg2394=) http://identifiers.org/clinvar/52330 ^@ NM_000059.3(BRCA2):c.7436-2A>T http://identifiers.org/clinvar/52380 ^@ NM_000059.3(BRCA2):c.7675_7676insAAAC (p.Ser2559Terfs) http://identifiers.org/clinvar/52431 ^@ NM_000059.3(BRCA2):c.7884dupA (p.Trp2629Metfs) http://identifiers.org/clinvar/52481 ^@ NM_000059.3(BRCA2):c.8036A>G (p.Asp2679Gly) http://identifiers.org/clinvar/52531 ^@ NM_000059.3(BRCA2):c.8229_8243delCAGACTGACAGTTGG (p.Arg2744_Gly2748del) http://identifiers.org/clinvar/52582 ^@ NM_000059.3(BRCA2):c.8420C>T (p.Ser2807Leu) http://identifiers.org/clinvar/52633 ^@ NM_000059.3(BRCA2):c.8601dupT (p.Lys2868Terfs) http://identifiers.org/clinvar/52684 ^@ NM_000059.3(BRCA2):c.8817_8820delGAAA (p.Lys2939Asnfs) http://identifiers.org/clinvar/52785 ^@ NM_000059.3(BRCA2):c.9253delA (p.Thr3085Glnfs) http://identifiers.org/clinvar/52837 ^@ NM_000059.3(BRCA2):c.9431delC (p.Ser3144Leufs) http://identifiers.org/clinvar/52887 ^@ NM_000059.3(BRCA2):c.9658C>T (p.Pro3220Ser) http://identifiers.org/clinvar/52937 ^@ NM_000218.2(KCNQ1):c.1032+1G>A http://identifiers.org/clinvar/52987 ^@ NM_000218.2(KCNQ1):c.151dupT (p.Tyr51Leufs) http://identifiers.org/clinvar/53037 ^@ NM_000218.2(KCNQ1):c.344A>G (p.Glu115Gly) http://identifiers.org/clinvar/53087 ^@ NM_000218.2(KCNQ1):c.692G>A (p.Arg231His) http://identifiers.org/clinvar/53138 ^@ NM_000218.2(KCNQ1):c.941G>A (p.Gly314Asp) http://identifiers.org/clinvar/53846 ^@ NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile) http://identifiers.org/clinvar/53896 ^@ NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) http://identifiers.org/clinvar/53947 ^@ NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) http://identifiers.org/clinvar/53997 ^@ NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) http://identifiers.org/clinvar/54047 ^@ NM_000492.3(CFTR):c.721G>A (p.Gly241Arg) http://identifiers.org/clinvar/54099 ^@ NM_007294.3(BRCA1):c.1001C>T (p.Pro334Leu) http://identifiers.org/clinvar/54149 ^@ NM_007294.3(BRCA1):c.1158_1159delTT (p.Ser387Glnfs) http://identifiers.org/clinvar/54199 ^@ NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) http://identifiers.org/clinvar/54249 ^@ NM_007294.3(BRCA1):c.1418A>T (p.Asn473Ile) http://identifiers.org/clinvar/54300 ^@ NM_007294.3(BRCA1):c.1581G>C (p.Lys527Asn) http://identifiers.org/clinvar/54350 ^@ NM_007294.3(BRCA1):c.178_179delCA (p.Gln60Valfs) http://identifiers.org/clinvar/54401 ^@ NM_007294.3(BRCA1):c.1924G>C (p.Asp642His) http://identifiers.org/clinvar/54451 ^@ NM_007294.3(BRCA1):c.2074delC (p.His692Metfs) http://identifiers.org/clinvar/54501 ^@ NM_007294.3(BRCA1):c.2211_2212delAG (p.Val738Terfs) http://identifiers.org/clinvar/54551 ^@ NM_007294.3(BRCA1):c.2387C>T (p.Thr796Ile) http://identifiers.org/clinvar/54601 ^@ NM_007294.3(BRCA1):c.2561C>T (p.Ala854Val) http://identifiers.org/clinvar/54651 ^@ NM_007294.3(BRCA1):c.269T>C (p.Ile90Thr) http://identifiers.org/clinvar/54701 ^@ NM_007294.3(BRCA1):c.2864C>A (p.Ser955Ter) http://identifiers.org/clinvar/54751 ^@ NM_007294.3(BRCA1):c.302-1G>C http://identifiers.org/clinvar/54801 ^@ NM_007294.3(BRCA1):c.3226delA (p.Arg1076Glufs) http://identifiers.org/clinvar/54851 ^@ NM_007294.3(BRCA1):c.3343delG (p.Glu1115Lysfs) http://identifiers.org/clinvar/54901 ^@ NM_007294.3(BRCA1):c.3494_3495delTT (p.Phe1165Cysfs) http://identifiers.org/clinvar/54953 ^@ NM_007294.3(BRCA1):c.3649T>C (p.Ser1217Pro) http://identifiers.org/clinvar/55004 ^@ NM_007294.3(BRCA1):c.3782delT (p.Leu1261Tyrfs) http://identifiers.org/clinvar/55054 ^@ NM_007294.3(BRCA1):c.3931_3934delAACA (p.Asn1311Profs) http://identifiers.org/clinvar/55105 ^@ NM_007294.3(BRCA1):c.4115G>A (p.Cys1372Tyr) http://identifiers.org/clinvar/55156 ^@ NM_007294.3(BRCA1):c.4261C>T (p.His1421Tyr) http://identifiers.org/clinvar/56171 ^@ NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) http://identifiers.org/clinvar/56635 ^@ NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) http://identifiers.org/clinvar/56685 ^@ NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys) http://identifiers.org/clinvar/56735 ^@ NM_025114.3(CEP290):c.3175delA (p.Ile1059Terfs) http://identifiers.org/clinvar/56788 ^@ NM_153704.5(TMEM67):c.734C>T (p.Ser245Phe) http://identifiers.org/clinvar/56992 ^@ GRCh38/hg38 6p25.3(chr6:259528-307998)x3 http://identifiers.org/clinvar/57047 ^@ GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 http://identifiers.org/clinvar/57102 ^@ GRCh38/hg38 22q11.21(chr22:20394686-21145682)x3 http://identifiers.org/clinvar/57155 ^@ GRCh38/hg38 12p13.33(chr12:832749-1632145)x3 http://identifiers.org/clinvar/57206 ^@ GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 http://identifiers.org/clinvar/57259 ^@ GRCh38/hg38 11q25(chr11:134232099-134998513)x1 http://identifiers.org/clinvar/57312 ^@ GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 http://identifiers.org/clinvar/57365 ^@ GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1 http://identifiers.org/clinvar/101183 ^@ NM_000090.3(COL3A1):c.944G>C (p.Gly315Ala) http://identifiers.org/clinvar/101233 ^@ NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp) http://identifiers.org/clinvar/101283 ^@ NM_000090.3(COL3A1):c.2445+2dupT (p.Gly798_Pro815del) http://identifiers.org/clinvar/101333 ^@ NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg) http://identifiers.org/clinvar/101383 ^@ NM_000090.3(COL3A1):c.3989delA (p.Glu1330Glyfs) http://identifiers.org/clinvar/101433 ^@ NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del) http://identifiers.org/clinvar/101483 ^@ NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp) http://identifiers.org/clinvar/102438 ^@ TTC19, TRP186TER http://identifiers.org/clinvar/102496 ^@ NM_000277.1(PAH):c.1054G>C (p.Gly352Arg) http://identifiers.org/clinvar/102554 ^@ NM_000277.1(PAH):c.1198delA (p.Arg400Glyfs) http://identifiers.org/clinvar/102605 ^@ NM_000277.1(PAH):c.168+5G>A http://identifiers.org/clinvar/102660 ^@ NM_000277.1(PAH):c.385G>T (p.Asp129Tyr) http://identifiers.org/clinvar/102711 ^@ NM_000277.1(PAH):c.509A>G (p.His170Arg) http://identifiers.org/clinvar/102761 ^@ NM_000277.1(PAH):c.616T>G (p.Tyr206Asp) http://identifiers.org/clinvar/102812 ^@ NM_000277.1(PAH):c.737C>A (p.Ala246Asp) http://identifiers.org/clinvar/102862 ^@ NM_000277.1(PAH):c.833C>A (p.Thr278Asn) http://identifiers.org/clinvar/102914 ^@ NM_000277.1(PAH):c.969+1G>A http://identifiers.org/clinvar/125741 ^@ U14680.1:n.5106-19delTins4 http://identifiers.org/clinvar/125816 ^@ U14680.1:n.5396+77G>A http://identifiers.org/clinvar/125879 ^@ NM_007294.3(BRCA1):c.547+146A>T http://identifiers.org/clinvar/125944 ^@ NM_000059.3(BRCA2):c.1401G>C (p.Lys467Asn) http://identifiers.org/clinvar/126310 ^@ NM_006015.4(ARID1A):c.5001G>A (p.Pro1667=) http://identifiers.org/clinvar/126361 ^@ NM_001128849.1(SMARCA4):c.3922C>T (p.Arg1308Trp) http://identifiers.org/clinvar/126418 ^@ NM_014625.3(NPHS2):c.868G>A (p.Val290Met) http://identifiers.org/clinvar/126486 ^@ NM_021625.4(TRPV4):c.992T>C (p.Ile331Thr) http://identifiers.org/clinvar/126572 ^@ NM_024675.3(PALB2):c.-194C>G http://identifiers.org/clinvar/126622 ^@ NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) http://identifiers.org/clinvar/126674 ^@ NM_024675.3(PALB2):c.26T>A (p.Leu9His) http://identifiers.org/clinvar/126724 ^@ NM_024675.3(PALB2):c.3202-45A>G http://identifiers.org/clinvar/126775 ^@ NM_024675.3(PALB2):c.854C>T (p.Ser285Leu) http://identifiers.org/clinvar/126826 ^@ NM_000321.2(RB1):c.1024delA (p.Thr342Leufs) http://identifiers.org/clinvar/126880 ^@ NM_017545.2(HAO1):c.*697T>C http://identifiers.org/clinvar/126935 ^@ NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala) http://identifiers.org/clinvar/126985 ^@ NM_000249.3(MLH1):c.739T>G (p.Ser247Ala) http://identifiers.org/clinvar/127035 ^@ NM_005591.3(MRE11):c.21-100T>A http://identifiers.org/clinvar/127091 ^@ NM_001039590.2(USP9X):c.7574delA (p.Gln2525Argfs) http://identifiers.org/clinvar/127159 ^@ NM_025132.3(WDR19):c.3565+1G>A http://identifiers.org/clinvar/127258 ^@ NM_001127255.1(NLRP7):c.1235T>C (p.Leu412Pro) http://identifiers.org/clinvar/127309 ^@ NM_000038.5(APC):c.5879_5880delCGinsTA (p.Pro1960Leu) http://identifiers.org/clinvar/127359 ^@ NM_000051.3(ATM):c.2840A>G (p.Tyr947Cys) http://identifiers.org/clinvar/127409 ^@ NM_000051.3(ATM):c.5536A>G (p.Ile1846Val) http://identifiers.org/clinvar/127510 ^@ NM_000057.3(BLM):c.4112C>T (p.Thr1371Met) http://identifiers.org/clinvar/127560 ^@ NM_000179.2(MSH6):c.1561A>T (p.Thr521Ser) http://identifiers.org/clinvar/127611 ^@ NM_000249.3(MLH1):c.1202G>A (p.Ser401Asn) http://identifiers.org/clinvar/161425 ^@ NM_001519.3(BRF1):c.667C>T (p.Arg223Trp) http://identifiers.org/clinvar/161836 ^@ NM_178043.2(LARP1B):c.1324G>T (p.Asp442Tyr) http://identifiers.org/clinvar/161486 ^@ NM_001007228.1(SPOP):c.305T>G (p.Phe102Cys) http://identifiers.org/clinvar/161786 ^@ NM_033007.3(NLRP1):c.2818C>T (p.Arg940Ter) http://identifiers.org/clinvar/162000 ^@ NM_000492.3(CFTR):c.830G>A (p.Trp277Ter) http://identifiers.org/clinvar/162067 ^@ NM_001164405.1(BHLHA9):c.224G>T (p.Arg75Leu) http://identifiers.org/clinvar/162126 ^@ NM_005211.3:c.2467C>T http://identifiers.org/clinvar/162195 ^@ NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) http://identifiers.org/clinvar/162397 ^@ NM_052874.4(STX1B):c.140C>A (p.Ser47Ter) http://identifiers.org/clinvar/162478 ^@ NM_004208.3(AIFM1):c.1097A>G (p.Asn366Ser) http://identifiers.org/clinvar/162537 ^@ NM_001849.3(COL6A2):c.2002G>A (p.Glu668Lys) http://identifiers.org/clinvar/162619 ^@ NM_024740.2(ALG9):c.1173+2T>A http://identifiers.org/clinvar/179105 ^@ NM_001035.2(RYR2):c.14757-7_14757-6delinsAT http://identifiers.org/clinvar/166489 ^@ NM_206933.2(USH2A):c.6087A>T (p.Ala2029=) http://identifiers.org/clinvar/179155 ^@ NM_133378.4(TTN):c.72181G>C (p.Glu24061Gln) http://identifiers.org/clinvar/165992 ^@ NM_133378.4(TTN):c.45308C>T (p.Ala15103Val) http://identifiers.org/clinvar/179555 ^@ NM_001042702.3(DFNB59):c.195C>G (p.Asp65Glu) http://identifiers.org/clinvar/162725 ^@ NM_001103.3(ACTN2):c.324C>A (p.Ala108=) http://identifiers.org/clinvar/163061 ^@ NM_001042702.3(DFNB59):c.212-12C>A http://identifiers.org/clinvar/165838 ^@ NM_133378.4(TTN):c.67264G>A (p.Gly22422Ser) http://identifiers.org/clinvar/165925 ^@ NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) http://identifiers.org/clinvar/165638 ^@ NM_133378.4(TTN):c.97291C>T (p.Leu32431=) http://identifiers.org/clinvar/178905 ^@ NM_003319.4(TTN):c.66777A>G (p.Glu22259=) http://identifiers.org/clinvar/166126 ^@ NM_133378.4(TTN):c.26083G>C (p.Glu8695Gln) http://identifiers.org/clinvar/166248 ^@ NM_001256850.1(TTN):c.10361-4085G>A http://identifiers.org/clinvar/179055 ^@ NM_001256850.1(TTN):c.23124T>G (p.Ile7708Met) http://identifiers.org/clinvar/166358 ^@ NM_133378.4(TTN):c.385G>A (p.Gly129Arg) http://identifiers.org/clinvar/166298 ^@ NM_133378.4(TTN):c.9488G>A (p.Arg3163His) http://identifiers.org/clinvar/178754 ^@ NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) http://identifiers.org/clinvar/179455 ^@ NM_001927.3(DES):c.79G>A (p.Gly27Ser) http://identifiers.org/clinvar/166580 ^@ NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) http://identifiers.org/clinvar/178855 ^@ NM_004415.3(DSP):c.1263G>A (p.Leu421=) http://identifiers.org/clinvar/179005 ^@ NM_033337.2(CAV3):c.39C>T (p.Ile13=) http://identifiers.org/clinvar/163655 ^@ NM_001080476.2(GRXCR1):c.628-11C>T http://identifiers.org/clinvar/163257 ^@ NM_004415.3(DSP):c.2684A>G (p.Tyr895Cys) http://identifiers.org/clinvar/179255 ^@ NM_004999.3(MYO6):c.2907_2909delAGA (p.Glu970del) http://identifiers.org/clinvar/179355 ^@ NM_000492.3(CFTR):c.1680-871_1680-870delinsGA http://identifiers.org/clinvar/162801 ^@ NM_004333.4(BRAF):c.1405G>T (p.Gly469Ter) http://identifiers.org/clinvar/179205 ^@ NM_016203.3(PRKAG2):c.1006G>A (p.Val336Ile) http://identifiers.org/clinvar/163116 ^@ NM_001277115.1(DNAH11):c.8990G>A (p.Arg2997Gln) http://identifiers.org/clinvar/178704 ^@ NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) http://identifiers.org/clinvar/202122 ^@ NM_024334.2(TMEM43):c.1100G>A (p.Gly367Asp) http://identifiers.org/clinvar/201949 ^@ NM_014476.5(PDLIM3):c.1074C>A (p.Val358=) http://identifiers.org/clinvar/202063 ^@ NM_001134363.2(RBM20):c.1913C>G (p.Pro638Arg) http://identifiers.org/clinvar/201675 ^@ NM_004281.3(BAG3):c.855G>A (p.Thr285=) http://identifiers.org/clinvar/201894 ^@ NM_032578.3(MYPN):c.611A>G (p.Glu204Gly) http://identifiers.org/clinvar/201841 ^@ NM_007078.2(LDB3):c.1231+19G>A http://identifiers.org/clinvar/201786 ^@ NM_004517.3(ILK):c.448+13delC http://identifiers.org/clinvar/201621 ^@ NM_020297.3(ABCC9):c.3896C>T (p.Pro1299Leu) http://identifiers.org/clinvar/202005 ^@ NM_004572.3(PKP2):c.2299+1G>A http://identifiers.org/clinvar/201731 ^@ NM_004006.2(DMD):c.2824A>G (p.Met942Val) http://identifiers.org/clinvar/202229 ^@ NC_000017.10:g.(?_789447)_(969524_?)dup http://identifiers.org/clinvar/203073 ^@ NM_001256850.1(TTN):c.98756A>G (p.Lys32919Arg) http://identifiers.org/clinvar/203023 ^@ NM_001256850.1(TTN):c.91681G>T (p.Val30561Leu) http://identifiers.org/clinvar/202973 ^@ NM_001256850.1(TTN):c.86068C>T (p.Pro28690Ser) http://identifiers.org/clinvar/202923 ^@ NM_001256850.1(TTN):c.79462G>T (p.Val26488Phe) http://identifiers.org/clinvar/202407 ^@ NM_001256850.1(TTN):c.72514C>T (p.Gln24172Ter) http://identifiers.org/clinvar/202873 ^@ NM_001256850.1(TTN):c.71893G>A (p.Val23965Ile) http://identifiers.org/clinvar/202520 ^@ NM_001256850.1(TTN):c.66640G>T (p.Gly22214Ter) http://identifiers.org/clinvar/202462 ^@ NM_001256850.1(TTN):c.65909delC (p.Ala21970Glyfs) http://identifiers.org/clinvar/202823 ^@ NM_001256850.1(TTN):c.65359G>T (p.Val21787Leu) http://identifiers.org/clinvar/233591 ^@ NM_000038.5(APC):c.5362C>T (p.Arg1788Cys) http://identifiers.org/clinvar/232691 ^@ NM_000038.5(APC):c.7812C>G (p.Asn2604Lys) http://identifiers.org/clinvar/232290 ^@ NM_000038.5(APC):c.8499C>G (p.Arg2833=) http://identifiers.org/clinvar/232741 ^@ NM_005732.3(RAD50):c.959G>A (p.Arg320Lys) http://identifiers.org/clinvar/233391 ^@ NM_000535.6(PMS2):c.2332T>A (p.Phe778Ile) http://identifiers.org/clinvar/232390 ^@ NM_000535.6(PMS2):c.825A>G (p.Gln275=) http://identifiers.org/clinvar/232240 ^@ NM_000535.6(PMS2):c.87G>A (p.Gly29=) http://identifiers.org/clinvar/233641 ^@ NM_000535.6(PMS2):c.59G>C (p.Arg20Pro) http://identifiers.org/clinvar/233491 ^@ NM_004329.2(BMPR1A):c.405dupA (p.Pro136Thrfs) http://identifiers.org/clinvar/232440 ^@ NM_004329.2(BMPR1A):c.726A>G (p.Lys242=) http://identifiers.org/clinvar/233341 ^@ NM_000051.3(ATM):c.5278A>G (p.Met1760Val) http://identifiers.org/clinvar/233041 ^@ NM_000051.3(ATM):c.5765C>A (p.Pro1922His) http://identifiers.org/clinvar/232340 ^@ NM_000051.3(ATM):c.6114C>G (p.His2038Gln) http://identifiers.org/clinvar/232941 ^@ NM_000051.3(ATM):c.8672-1G>T http://identifiers.org/clinvar/232841 ^@ NM_000051.3(ATM):c.9001_9002delAG (p.Ser3001Phefs) http://identifiers.org/clinvar/233441 ^@ NM_000059.3(BRCA2):c.1330A>C (p.Asn444His) http://identifiers.org/clinvar/232641 ^@ NM_000059.3(BRCA2):c.2661G>A (p.Glu887=) http://identifiers.org/clinvar/232490 ^@ NM_000059.3(BRCA2):c.3877A>C (p.Ile1293Leu) http://identifiers.org/clinvar/233291 ^@ NM_000059.3(BRCA2):c.5669_5673delTGGCA (p.Met1890Argfs) http://identifiers.org/clinvar/233541 ^@ NM_024675.3(PALB2):c.1804C>G (p.Gln602Glu) http://identifiers.org/clinvar/233141 ^@ NM_004360.4(CDH1):c.921A>G (p.Gln307=) http://identifiers.org/clinvar/232991 ^@ NM_004360.4(CDH1):c.1720G>A (p.Val574Ile) http://identifiers.org/clinvar/234094 ^@ NM_001042492.2(NF1):c.3485T>G (p.Met1162Arg) http://identifiers.org/clinvar/234044 ^@ NM_001042492.2(NF1):c.3495A>C (p.Ile1165=) http://identifiers.org/clinvar/233241 ^@ NM_007294.3(BRCA1):c.2101A>T (p.Lys701Ter) http://identifiers.org/clinvar/232791 ^@ NM_007294.3(BRCA1):c.1714G>C (p.Glu572Gln) http://identifiers.org/clinvar/232891 ^@ NM_000455.4(STK11):c.870T>G (p.Leu290=) http://identifiers.org/clinvar/233191 ^@ NM_007194.3(CHEK2):c.920delG (p.Gly307Glufs) http://identifiers.org/clinvar/235796 ^@ NM_138295.4(PKD1L1):c.6473+2_6473+3delTG http://identifiers.org/clinvar/235247 ^@ NM_001080432.2(FTO):c.1365G>T (p.Arg455Ser) http://identifiers.org/clinvar/235299 ^@ NC_012920.1:m.3990C>T http://identifiers.org/clinvar/235351 ^@ NC_012920.1:m.14148A>G http://identifiers.org/clinvar/235406 ^@ NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) http://identifiers.org/clinvar/235461 ^@ NC_012920.1:m.9281C>T http://identifiers.org/clinvar/235513 ^@ NM_021645.5(UTP14C):c.508A>G (p.Ile170Val) http://identifiers.org/clinvar/235566 ^@ NM_000252.2(MTM1):c.137-3T>G http://identifiers.org/clinvar/235616 ^@ NM_000159.3(GCDH):c.1156C>T (p.Arg386Ter) http://identifiers.org/clinvar/235669 ^@ NM_001130144.2(LTBP3):c.1550C>T (p.Pro517Leu) http://identifiers.org/clinvar/235729 ^@ NM_138694.3(PKHD1):c.779-13_779-12delTT http://identifiers.org/clinvar/235856 ^@ NM_003588.3(CUL4B):c.811_812delCA (p.Gln271Aspfs) http://identifiers.org/clinvar/236040 ^@ NM_016239.3(MYO15A):c.6340G>A (p.Val2114Met) http://identifiers.org/clinvar/236140 ^@ NM_000350.2(ABCA4):c.5881G>A (p.Gly1961Arg) http://identifiers.org/clinvar/236090 ^@ NM_000350.2(ABCA4):c.2160+1G>T http://identifiers.org/clinvar/236190 ^@ NM_000159.3(GCDH):c.731delG (p.Gly244Valfs) http://identifiers.org/clinvar/236278 ^@ NM_000059.3(BRCA2):c.4391_4393delCTGinsTT (p.Ser1464Phefs) http://identifiers.org/clinvar/236329 ^@ NC_000001.9:g.149599791_149671472dup71682 http://identifiers.org/clinvar/236379 ^@ NC_000022.10:g.18874965_21028946dup2153982 http://identifiers.org/clinvar/242383 ^@ NM_000157.3(GBA):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/236530 ^@ NM_206933.2(USH2A):c.2139C>T (p.Gly713=) http://identifiers.org/clinvar/236480 ^@ NM_000329.2(RPE65):c.726-2A>C http://identifiers.org/clinvar/236430 ^@ NM_022124.5(CDH23):c.7908C>G (p.Tyr2636Ter) http://identifiers.org/clinvar/237876 ^@ NM_000530.7(MPZ):c.368_369delGCinsCT (p.Gly123Ala) http://identifiers.org/clinvar/238226 ^@ NM_001035.2(RYR2):c.1871C>T (p.Ala624Val) http://identifiers.org/clinvar/240970 ^@ NM_015102.4(NPHP4):c.3144C>T (p.Ala1048=) http://identifiers.org/clinvar/241220 ^@ NM_017849.3(TMEM127):c.-131-?_*3600+?del http://identifiers.org/clinvar/238876 ^@ NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys) http://identifiers.org/clinvar/238776 ^@ NM_001267550.2(TTN):c.43133A>G (p.His14378Arg) http://identifiers.org/clinvar/238726 ^@ NM_001267550.2(TTN):c.25707_25708invTG (p.Glu8570Lys) http://identifiers.org/clinvar/238826 ^@ NM_001267550.2(TTN):c.6587G>A (p.Cys2196Tyr) http://identifiers.org/clinvar/239077 ^@ NM_001927.3(DES):c.524G>A (p.Arg175His) http://identifiers.org/clinvar/239127 ^@ NM_002354.2(EPCAM):c.429G>A (p.Trp143Ter) http://identifiers.org/clinvar/241020 ^@ NM_015141.3(GPD1L):c.245G>T (p.Ser82Ile) http://identifiers.org/clinvar/240670 ^@ NM_006514.3(SCN10A):c.3542C>T (p.Thr1181Met) http://identifiers.org/clinvar/241070 ^@ NM_015896.3(ZMYND10):c.575G>A (p.Arg192His) http://identifiers.org/clinvar/238576 ^@ NM_001148.4(ANK2):c.3033C>T (p.Arg1011=) http://identifiers.org/clinvar/238276 ^@ NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) http://identifiers.org/clinvar/240320 ^@ NM_006206.4(PDGFRA):c.1896G>A (p.Thr632=) http://identifiers.org/clinvar/236580 ^@ NM_000038.5(APC):c.277C>G (p.Leu93Val) http://identifiers.org/clinvar/236630 ^@ NM_000038.5(APC):c.6368G>C (p.Cys2123Ser) http://identifiers.org/clinvar/240220 ^@ NM_005732.3(RAD50):c.1876G>A (p.Glu626Lys) http://identifiers.org/clinvar/238926 ^@ NM_001277115.1(DNAH11):c.5990C>T (p.Pro1997Leu) http://identifiers.org/clinvar/255790 ^@ NM_000297.3(PKD2):c.1549-4T>C http://identifiers.org/clinvar/258529 ^@ NM_001999.3(FBN2):c.8351C>T (p.Pro2784Leu) http://identifiers.org/clinvar/255940 ^@ NM_000358.2(TGFBI):c.981A>G (p.Val327=) http://identifiers.org/clinvar/258029 ^@ NM_001369.2(DNAH5):c.4116+45T>C http://identifiers.org/clinvar/258779 ^@ NM_002609.3(PDGFRB):c.3252A>G (p.Pro1084=) http://identifiers.org/clinvar/258579 ^@ NM_002185.3(IL7R):c.82+16G>C http://identifiers.org/clinvar/259379 ^@ NM_004385.4(VCAN):c.9882C>T (p.Val3294=) http://identifiers.org/clinvar/256090 ^@ NM_000426.3(LAMA2):c.8586T>C (p.Tyr2862=) http://identifiers.org/clinvar/256290 ^@ NM_000500.7(CYP21A2):c.293-4G>A http://identifiers.org/clinvar/261119 ^@ NM_019105.6(TNXB):c.12150C>G (p.Arg4050=) http://identifiers.org/clinvar/261169 ^@ NM_019105.6(TNXB):c.8536G>A (p.Gly2846Arg) http://identifiers.org/clinvar/257629 ^@ NM_001206927.1(DNAH8):c.13119A>G (p.Leu4373=) http://identifiers.org/clinvar/255740 ^@ NM_000287.3(PEX6):c.2730G>A (p.Thr910=) http://identifiers.org/clinvar/259329 ^@ NM_004370.5(COL12A1):c.3565+18A>G http://identifiers.org/clinvar/261219 ^@ NM_020320.4(RARS2):c.1305+18C>T http://identifiers.org/clinvar/258129 ^@ NM_001458.4(FLNC):c.2078A>C (p.Asp693Ala) http://identifiers.org/clinvar/257879 ^@ NM_001277115.1(DNAH11):c.2783A>T (p.Asp928Val) http://identifiers.org/clinvar/257929 ^@ NM_001277115.1(DNAH11):c.7591T>C (p.Tyr2531His) http://identifiers.org/clinvar/260769 ^@ NM_016616.4(NME8):c.818+27T>C http://identifiers.org/clinvar/260919 ^@ NM_017802.3(DNAAF5):c.1024+11G>T http://identifiers.org/clinvar/256840 ^@ NM_000941.2(POR):c.1508C>T (p.Ala503Val) http://identifiers.org/clinvar/258179 ^@ NM_001715.2(BLK):c.772+16C>T http://identifiers.org/clinvar/260269 ^@ NM_012472.5(LRRC6):c.1162G>A (p.Gly388Ser) http://identifiers.org/clinvar/259279 ^@ NM_004315.5(ASAH1):c.264+46_264+47insTAT http://identifiers.org/clinvar/261319 ^@ NM_020476.2(ANK1):c.597G>A (p.Pro199=) http://identifiers.org/clinvar/260419 ^@ NM_014425.4(INVS):c.849C>T (p.Ile283=) http://identifiers.org/clinvar/258629 ^@ NM_002316.3(LMX1B):c.726G>C (p.Ser242=) http://identifiers.org/clinvar/259429 ^@ NM_004560.3(ROR2):c.1184-39A>T http://identifiers.org/clinvar/260469 ^@ NM_014915.2(ANKRD26):c.4145T>A (p.Phe1382Tyr) http://identifiers.org/clinvar/260719 ^@ NM_016341.3(PLCE1):c.4263G>A (p.Ser1421=) http://identifiers.org/clinvar/260669 ^@ NM_015631.5(TCTN3):c.500-11A>T http://identifiers.org/clinvar/256190 ^@ NM_000448.2(RAG1):c.2880A>G (p.Ala960=) http://identifiers.org/clinvar/256340 ^@ NM_000518.4(HBB):c.*231T>C http://identifiers.org/clinvar/256590 ^@ NM_000543.4(SMPD1):c.107_112delTGCTGG (p.Val36_Leu37del) http://identifiers.org/clinvar/261419 ^@ NM_021625.4(TRPV4):c.386+26G>C http://identifiers.org/clinvar/261469 ^@ NM_021957.3(GYS2):c.1890+25delT http://identifiers.org/clinvar/258229 ^@ NM_001844.4(COL2A1):c.2409+9C>T http://identifiers.org/clinvar/256690 ^@ NM_000552.4(VWF):c.6345T>A (p.Thr2115=) http://identifiers.org/clinvar/261069 ^@ NM_018979.3(WNK1):c.258T>C (p.Cys86=) http://identifiers.org/clinvar/261019 ^@ NM_018139.2(DNAAF2):c.384C>A (p.Gly128=) http://identifiers.org/clinvar/258829 ^@ NM_002863.4(PYGL):c.*7G>C http://identifiers.org/clinvar/260319 ^@ NM_014080.4(DUOX2):c.2148+9C>T http://identifiers.org/clinvar/333114 ^@ NM_000393.4(COL5A2):c.*716A>G http://identifiers.org/clinvar/333164 ^@ NM_014585.5(SLC40A1):c.1483G>A (p.Val495Ile) http://identifiers.org/clinvar/333314 ^@ NM_002156.4(HSPD1):c.-3+15C>A http://identifiers.org/clinvar/333564 ^@ NM_001044385.2(TMEM237):c.80-11T>C http://identifiers.org/clinvar/333664 ^@ NM_001204.6(BMPR2):c.*806C>T http://identifiers.org/clinvar/333764 ^@ NM_005006.6(NDUFS1):c.*846dupT http://identifiers.org/clinvar/333864 ^@ NM_014929.3(FASTKD2):c.*4199G>C http://identifiers.org/clinvar/333914 ^@ NM_015040.3(PIKFYVE):c.3270C>G (p.Leu1090=) http://identifiers.org/clinvar/334015 ^@ NM_001875.4(CPS1):c.637G>A (p.Gly213Ser) http://identifiers.org/clinvar/337622 ^@ NM_001079.3(ZAP70):c.-133C>T http://identifiers.org/clinvar/337672 ^@ NM_001298.2(CNGA3):c.*166G>A http://identifiers.org/clinvar/342302 ^@ NM_016247.3(IMPG2):c.*1589A>G http://identifiers.org/clinvar/342402 ^@ NM_000551.3(VHL):c.10A>T (p.Arg4Trp) http://identifiers.org/clinvar/342452 ^@ NM_000551.3(VHL):c.*1867A>G http://identifiers.org/clinvar/342552 ^@ NM_198196.2(CD96):c.*172G>T http://identifiers.org/clinvar/342652 ^@ NM_020754.3(ARHGAP31):c.1926+11T>C http://identifiers.org/clinvar/342802 ^@ NM_000388.3(CASR):c.2915C>T (p.Thr972Met) http://identifiers.org/clinvar/337572 ^@ NM_014014.4(SNRNP200):c.-81C>T http://identifiers.org/clinvar/343002 ^@ NM_000373.3(UMPS):c.*3264G>A http://identifiers.org/clinvar/343052 ^@ NM_025265.3(TSEN2):c.-382A>C http://identifiers.org/clinvar/343152 ^@ NM_004637.5(RAB7A):c.-154G>A http://identifiers.org/clinvar/343202 ^@ NM_014049.4(ACAD9):c.1474C>T (p.Pro492Ser) http://identifiers.org/clinvar/343302 ^@ NM_000539.3(RHO):c.*912A>G http://identifiers.org/clinvar/343352 ^@ NM_153240.4(NPHP3):c.*1213T>C http://identifiers.org/clinvar/343402 ^@ NM_003571.3(BFSP2):c.251dupT (p.Leu85Profs) http://identifiers.org/clinvar/342702 ^@ NM_020754.3(ARHGAP31):c.*1648C>T http://identifiers.org/clinvar/342752 ^@ NM_000187.3(HGD):c.260A>C (p.Glu87Ala) http://identifiers.org/clinvar/342852 ^@ NM_053025.3(MYLK):c.*416dupT http://identifiers.org/clinvar/342902 ^@ NM_053025.3(MYLK):c.643A>G (p.Met215Val) http://identifiers.org/clinvar/343102 ^@ NM_002880.3(RAF1):c.*113T>G http://identifiers.org/clinvar/343252 ^@ NM_052985.3(IFT122):c.2457G>A (p.Val819=) http://identifiers.org/clinvar/350581 ^@ NM_001182.4(ALDH7A1):c.*65G>A http://identifiers.org/clinvar/350781 ^@ NM_001999.3(FBN2):c.3277A>G (p.Ile1093Val) http://identifiers.org/clinvar/350831 ^@ NM_003060.3(SLC22A5):c.*959_*960insC http://identifiers.org/clinvar/350681 ^@ NM_032446.2(MEGF10):c.*625A>G http://identifiers.org/clinvar/350881 ^@ NM_000358.2(TGFBI):c.1061A>G (p.Asn354Ser) http://identifiers.org/clinvar/350981 ^@ NM_017415.2(KLHL3):c.*141C>T http://identifiers.org/clinvar/350931 ^@ NM_017415.2(KLHL3):c.*3338delT http://identifiers.org/clinvar/355057 ^@ NM_003880.3(WISP3):c.77C>T (p.Pro26Leu) http://identifiers.org/clinvar/351031 ^@ NM_006790.2(MYOT):c.*167A>G http://identifiers.org/clinvar/355158 ^@ NM_000165.4(GJA1):c.-16-12T>A http://identifiers.org/clinvar/355308 ^@ NM_000426.3(LAMA2):c.*46T>C http://identifiers.org/clinvar/351131 ^@ NM_199189.2(MATR3):c.1893C>T (p.Ser631=) http://identifiers.org/clinvar/351181 ^@ NM_199189.2(MATR3):c.*2077A>C http://identifiers.org/clinvar/351431 ^@ NM_054027.4(ANKH):c.*3628T>C http://identifiers.org/clinvar/351381 ^@ NM_002700.2(POU4F3):c.442C>T (p.His148Tyr) http://identifiers.org/clinvar/355708 ^@ NM_203395.2(IYD):c.*1121C>G http://identifiers.org/clinvar/351481 ^@ NM_054027.4(ANKH):c.*781T>A http://identifiers.org/clinvar/351681 ^@ NM_024577.3(SH3TC2):c.*12146C>G http://identifiers.org/clinvar/351731 ^@ NM_024577.3(SH3TC2):c.*10006A>T http://identifiers.org/clinvar/351831 ^@ NM_024577.3(SH3TC2):c.*4182A>G http://identifiers.org/clinvar/351881 ^@ NM_024577.3(SH3TC2):c.*719G>A http://identifiers.org/clinvar/356008 ^@ NM_004562.2(PRKN):c.*372C>G http://identifiers.org/clinvar/356058 ^@ NM_198586.2(NHLRC1):c.*837G>A http://identifiers.org/clinvar/356208 ^@ NM_000410.3(HFE):c.*988G>A http://identifiers.org/clinvar/352568 ^@ NM_002187.2(IL12B):c.*225A>C http://identifiers.org/clinvar/352418 ^@ NM_000337.5(SGCD):c.*6065A>G http://identifiers.org/clinvar/352468 ^@ NM_005546.3(ITK):c.844G>A (p.Val282Ile) http://identifiers.org/clinvar/352718 ^@ NM_012188.4(FOXI1):c.*486C>T http://identifiers.org/clinvar/352918 ^@ NM_022455.4(NSD1):c.*3098dupA http://identifiers.org/clinvar/353168 ^@ NM_003900.4(SQSTM1):c.*83G>A http://identifiers.org/clinvar/360846 ^@ NM_005751.4(AKAP9):c.10107T>C (p.Tyr3369=) http://identifiers.org/clinvar/353268 ^@ NM_002185.3(IL7R):c.707G>A (p.Gly236Glu) http://identifiers.org/clinvar/353118 ^@ NM_014244.4(ADAMTS2):c.1883G>A (p.Arg628His) http://identifiers.org/clinvar/353368 ^@ NM_133433.3(NIPBL):c.-265A>G http://identifiers.org/clinvar/361146 ^@ NM_015713.4(RRM2B):c.*2410C>A http://identifiers.org/clinvar/353468 ^@ NM_023073.3(C5orf42):c.523A>G (p.Thr175Ala) http://identifiers.org/clinvar/353218 ^@ NM_016180.4(SLC45A2):c.627A>G (p.Arg209=) http://identifiers.org/clinvar/361296 ^@ NM_178857.5(RP1L1):c.3972A>G (p.Glu1324=) http://identifiers.org/clinvar/353618 ^@ NM_002310.5(LIFR):c.2309C>T (p.Thr770Ile) http://identifiers.org/clinvar/361497 ^@ NM_001715.2(BLK):c.1351G>A (p.Gly451Ser) http://identifiers.org/clinvar/361656 ^@ NM_000127.2(EXT1):c.1359C>T (p.Phe453=) http://identifiers.org/clinvar/361756 ^@ NM_004519.3(KCNQ3):c.*7243C>G http://identifiers.org/clinvar/363895 ^@ NM_002485.4(NBN):c.*1823T>C http://identifiers.org/clinvar/363845 ^@ NM_019098.4(CNGB3):c.*1638G>A http://identifiers.org/clinvar/361096 ^@ NM_017890.4(VPS13B):c.11413G>T (p.Val3805Leu) http://identifiers.org/clinvar/363945 ^@ NM_018444.3(PDP1):c.*36T>C http://identifiers.org/clinvar/300148 ^@ NM_000242.2(MBL2):c.378C>G (p.Leu126=) http://identifiers.org/clinvar/300248 ^@ NM_000417.2(IL2RA):c.*70G>A http://identifiers.org/clinvar/364245 ^@ NM_014425.4(INVS):c.*469A>T http://identifiers.org/clinvar/300398 ^@ NM_022124.5(CDH23):c.321C>G (p.Val107=) http://identifiers.org/clinvar/300498 ^@ NM_002778.3(PSAP):c.*891G>A http://identifiers.org/clinvar/364645 ^@ NM_000031.5(ALAD):c.678G>T (p.Leu226=) http://identifiers.org/clinvar/300648 ^@ NM_004273.4(CHST3):c.*3445G>A http://identifiers.org/clinvar/364545 ^@ NM_003640.4(IKBKAP):c.*1071G>A http://identifiers.org/clinvar/307731 ^@ NM_000834.3(GRIN2B):c.*214C>A http://identifiers.org/clinvar/307781 ^@ NM_006205.2(PDE6H):c.-29G>C http://identifiers.org/clinvar/307831 ^@ NM_172364.4(CACNA2D4):c.3354G>A (p.Ser1118=) http://identifiers.org/clinvar/307881 ^@ NM_019844.3(SLCO1B3):c.-181+15G>C http://identifiers.org/clinvar/308281 ^@ NM_139241.3(FGD4):c.-246G>C http://identifiers.org/clinvar/308481 ^@ NM_004572.3(PKP2):c.*944C>A http://identifiers.org/clinvar/301387 ^@ NM_005271.4(GLUD1):c.*64T>G http://identifiers.org/clinvar/308781 ^@ NM_020638.2(FGF23):c.*1352T>C http://identifiers.org/clinvar/308831 ^@ NM_001017535.1(VDR):c.*2122dupA http://identifiers.org/clinvar/301637 ^@ NM_006204.3(PDE6C):c.2096A>C (p.Glu699Ala) http://identifiers.org/clinvar/365734 ^@ NM_000093.4(COL5A1):c.5293C>T (p.Arg1765Cys) http://identifiers.org/clinvar/301737 ^@ NM_016341.3(PLCE1):c.*166G>C http://identifiers.org/clinvar/365834 ^@ NM_052813.4(CARD9):c.1382C>T (p.Pro461Leu) http://identifiers.org/clinvar/365534 ^@ NM_139025.4(ADAMTS13):c.-52C>G http://identifiers.org/clinvar/365634 ^@ NM_000787.3(DBH):c.263G>C (p.Gly88Ala) http://identifiers.org/clinvar/365684 ^@ NM_000787.3(DBH):c.*315G>A http://identifiers.org/clinvar/301887 ^@ NM_004621.5(TRPC6):c.*553T>G http://identifiers.org/clinvar/366085 ^@ NM_144966.5(FREM1):c.*985T>G http://identifiers.org/clinvar/366135 ^@ NM_144966.5(FREM1):c.3359A>T (p.Gln1120Leu) http://identifiers.org/clinvar/365784 ^@ NM_000093.4(COL5A1):c.*1848C>G http://identifiers.org/clinvar/366185 ^@ NM_144966.5(FREM1):c.-176A>T http://identifiers.org/clinvar/366285 ^@ NM_002451.3(MTAP):c.*1760A>G http://identifiers.org/clinvar/366335 ^@ NM_003070.4(SMARCA2):c.*324G>C http://identifiers.org/clinvar/302337 ^@ NM_002906.3(RDX):c.*523_*524delCA http://identifiers.org/clinvar/366485 ^@ NM_001256054.2(C9orf72):c.*1406T>C http://identifiers.org/clinvar/366585 ^@ NM_175073.2(APTX):c.*605G>A http://identifiers.org/clinvar/314274 ^@ NM_000428.2(LTBP2):c.4467T>C (p.Cys1489=) http://identifiers.org/clinvar/340462 ^@ NM_006031.5(PCNT):c.721-7G>T http://identifiers.org/clinvar/340613 ^@ NM_014339.6(IL17RA):c.2490C>T (p.Pro830=) http://identifiers.org/clinvar/340713 ^@ NM_014339.6(IL17RA):c.*4516C>T http://identifiers.org/clinvar/314624 ^@ NM_004863.3(SPTLC2):c.*2645C>T http://identifiers.org/clinvar/340863 ^@ NM_004782.3(SNAP29):c.*1490T>C http://identifiers.org/clinvar/314724 ^@ NM_000369.2(TSHR):c.*1813T>A http://identifiers.org/clinvar/341163 ^@ NM_000268.3(NF2):c.*3140G>T http://identifiers.org/clinvar/341313 ^@ NM_012179.3(FBXO7):c.745A>G (p.Thr249Ala) http://identifiers.org/clinvar/313424 ^@ NM_172337.2(OTX2):c.-184G>T http://identifiers.org/clinvar/313524 ^@ NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val) http://identifiers.org/clinvar/313574 ^@ NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) http://identifiers.org/clinvar/315513 ^@ NM_002420.5(TRPM1):c.2250+11C>T http://identifiers.org/clinvar/315563 ^@ NM_133647.1(SLC12A6):c.*2684A>G http://identifiers.org/clinvar/315713 ^@ NM_005159.4(ACTC1):c.-36C>G http://identifiers.org/clinvar/315763 ^@ NM_152594.2(SPRED1):c.*2843A>C http://identifiers.org/clinvar/313924 ^@ NM_015346.3(ZFYVE26):c.677G>A (p.Arg226His) http://identifiers.org/clinvar/316013 ^@ NM_000119.2(EPB42):c.1355G>T (p.Gly452Val) http://identifiers.org/clinvar/314174 ^@ NM_005589.3(ALDH6A1):c.908A>G (p.Asn303Ser) http://identifiers.org/clinvar/316113 ^@ NM_025137.3(SPG11):c.604A>G (p.Met202Val) http://identifiers.org/clinvar/316163 ^@ NM_014080.4(DUOX2):c.2593A>C (p.Thr865Pro) http://identifiers.org/clinvar/323948 ^@ NM_000080.3(CHRNE):c.*868G>T http://identifiers.org/clinvar/316213 ^@ NM_001482.2(GATM):c.-72C>T http://identifiers.org/clinvar/323998 ^@ NM_000080.3(CHRNE):c.47-8dupC http://identifiers.org/clinvar/314324 ^@ NM_000428.2(LTBP2):c.-93C>T http://identifiers.org/clinvar/368253 ^@ NM_004006.2(DMD):c.530+7A>T http://identifiers.org/clinvar/314424 ^@ NM_017791.2(FLVCR2):c.*379T>C http://identifiers.org/clinvar/316363 ^@ NM_000138.4(FBN1):c.8011C>T (p.Leu2671=) http://identifiers.org/clinvar/316413 ^@ NM_014985.3(CEP152):c.3611G>A (p.Gly1204Glu) http://identifiers.org/clinvar/368453 ^@ NM_005710.2(PQBP1):c.585C>T (p.Ser195=) http://identifiers.org/clinvar/316463 ^@ NM_031226.2(CYP19A1):c.*280A>T http://identifiers.org/clinvar/314474 ^@ NM_004452.3(ESRRB):c.-324G>A http://identifiers.org/clinvar/314524 ^@ NM_013382.5(POMT2):c.*1579C>A http://identifiers.org/clinvar/314574 ^@ NM_004863.3(SPTLC2):c.*5915T>C http://identifiers.org/clinvar/316613 ^@ NM_004580.4(RAB27A):c.*1926T>A http://identifiers.org/clinvar/324407 ^@ NM_000789.3(ACE):c.2787C>T (p.Thr929=) http://identifiers.org/clinvar/314674 ^@ NM_004863.3(SPTLC2):c.761G>C (p.Cys254Ser) http://identifiers.org/clinvar/324607 ^@ NM_014336.4(AIPL1):c.*134G>T http://identifiers.org/clinvar/324657 ^@ NM_031220.3(PITPNM3):c.*3693A>G http://identifiers.org/clinvar/324757 ^@ NM_031220.3(PITPNM3):c.914C>T (p.Ala305Val) http://identifiers.org/clinvar/324807 ^@ NM_002734.4(PRKAR1A):c.*1244T>C http://identifiers.org/clinvar/324857 ^@ NM_000891.2(KCNJ2):c.*1412G>A http://identifiers.org/clinvar/315313 ^@ NM_139057.3(ADAMTS17):c.709C>T (p.Leu237=) http://identifiers.org/clinvar/324957 ^@ NM_018714.2(COG1):c.200G>T (p.Gly67Val) http://identifiers.org/clinvar/315463 ^@ NM_000275.2(OCA2):c.1785-7C>G http://identifiers.org/clinvar/315963 ^@ NM_173500.3(TTBK2):c.*966C>T http://identifiers.org/clinvar/316313 ^@ NM_000138.4(FBN1):c.*2091G>A http://identifiers.org/clinvar/372018 ^@ NM_006231.3(POLE):c.5379-5T>C http://identifiers.org/clinvar/372068 ^@ NM_007294.3(BRCA1):c.5440dupG (p.Ala1814Glyfs) http://identifiers.org/clinvar/371968 ^@ NM_000455.4(STK11):c.862+23C>T http://identifiers.org/clinvar/372118 ^@ NM_032667.6(BSCL2):c.672-2A>C http://identifiers.org/clinvar/372192 ^@ NM_003805.4(CRADD):c.491T>G (p.Phe164Cys) http://identifiers.org/clinvar/372248 ^@ NM_020810.3(TRMT5):c.1156A>G (p.Met386Val) http://identifiers.org/clinvar/372768 ^@ NM_002016.1(FLG):c.4004_4005delAG (p.Glu1335Valfs) http://identifiers.org/clinvar/373024 ^@ NM_002016.1(FLG):c.1826C>A (p.Ser609Ter) http://identifiers.org/clinvar/372923 ^@ NM_004895.4(NLRP3):c.2499-8T>A http://identifiers.org/clinvar/373074 ^@ NM_001256850.1(TTN):c.95902C>T (p.Arg31968Ter) http://identifiers.org/clinvar/373274 ^@ NM_004369.3(COL6A3):c.1867C>T (p.Pro623Ser) http://identifiers.org/clinvar/373174 ^@ NM_024582.4(FAT4):c.3682C>G (p.Gln1228Glu) http://identifiers.org/clinvar/372564 ^@ NM_004333.4(BRAF):c.437G>A (p.Arg146Gln) http://identifiers.org/clinvar/373124 ^@ NM_016628.4(WAC):c.1072C>T (p.Gln358Ter) http://identifiers.org/clinvar/372614 ^@ NM_012330.3(KAT6B):c.3341C>T (p.Thr1114Met) http://identifiers.org/clinvar/372666 ^@ NM_005343.3(HRAS):c.304C>T (p.Arg102Trp) http://identifiers.org/clinvar/372405 ^@ NM_002335.3(LRP5):c.55_60dupCTGCTG (p.Leu20_Ala21insLeuLeu) http://identifiers.org/clinvar/372512 ^@ NM_000543.4(SMPD1):c.1562T>G (p.Leu521Arg) http://identifiers.org/clinvar/373224 ^@ NM_014191.3(SCN8A):c.760G>A (p.Val254Met) http://identifiers.org/clinvar/372354 ^@ NM_000781.2(CYP11A1):c.940G>A (p.Glu314Lys) http://identifiers.org/clinvar/372718 ^@ NM_152594.2(SPRED1):c.46C>T (p.Arg16Ter) http://identifiers.org/clinvar/372974 ^@ NM_005559.3(LAMA1):c.8192C>A (p.Ser2731Ter) http://identifiers.org/clinvar/372819 ^@ NM_001242896.1(DEPDC5):c.4594A>G (p.Ser1532Gly) http://identifiers.org/clinvar/372871 ^@ NM_002024.5(FMR1):c.1256A>G (p.Tyr419Cys) http://identifiers.org/clinvar/372459 ^@ NM_000444.5(PHEX):c.1700G>C (p.Arg567Pro) http://identifiers.org/clinvar/372304 ^@ NM_000047.2(ARSE):c.332G>A (p.Arg111His) http://identifiers.org/clinvar/374708 ^@ NM_024110.4(CARD14):c.1428C>A (p.Pro476=) http://identifiers.org/clinvar/374758 ^@ NM_138691.2(TMC1):c.2050G>A (p.Asp684Asn) http://identifiers.org/clinvar/374818 ^@ NM_000141.4(FGFR2):c.1024T>G (p.Cys342Gly) http://identifiers.org/clinvar/374868 ^@ NM_016233.2(PADI3):c.335T>A (p.Leu112His) http://identifiers.org/clinvar/374934 ^@ NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) http://identifiers.org/clinvar/374986 ^@ NM_001024845.2(SLC6A9):c.1000A>G (p.Ser334Gly) http://identifiers.org/clinvar/375320 ^@ NM_005215.3(DCC):c.3649A>G (p.Met1217Val) http://identifiers.org/clinvar/375371 ^@ NM_005654.5(NR2F1):c.413G>A (p.Cys138Tyr) http://identifiers.org/clinvar/375426 ^@ NM_001453.2(FOXC1):c.487G>T (p.Glu163Ter) http://identifiers.org/clinvar/375492 ^@ NM_001003694.1(BRPF1):c.567delT (p.Asp190Metfs) http://identifiers.org/clinvar/375545 ^@ NG_016623.1:g.52575_70074dup17500 http://identifiers.org/clinvar/375610 ^@ NP_000483.3:p.Ser549Arg http://identifiers.org/clinvar/375663 ^@ NM_001071.2(TYMS):c.*447_*452delTTAAAG http://identifiers.org/clinvar/375757 ^@ NM_000517.4:c.-2_-3delAC http://identifiers.org/clinvar/375807 ^@ NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) http://identifiers.org/clinvar/375857 ^@ NM_001256849.1(POLD1):c.3035G>A (p.Cys1012Tyr) http://identifiers.org/clinvar/375910 ^@ NM_000222.2(KIT):c.1674G>C (p.Lys558Asn) http://identifiers.org/clinvar/392092 ^@ NM_000251.2(MSH2):c.1277-7C>G http://identifiers.org/clinvar/382010 ^@ NM_000251.2(MSH2):c.1759+13G>T http://identifiers.org/clinvar/378169 ^@ NM_000179.2(MSH6):c.3646+10T>A http://identifiers.org/clinvar/389453 ^@ NM_000465.3(BARD1):c.364+9T>C http://identifiers.org/clinvar/380067 ^@ NM_205847.2(GMPPA):c.-34T>C http://identifiers.org/clinvar/392042 ^@ NM_004321.7(KIF1A):c.761G>C (p.Arg254Pro) http://identifiers.org/clinvar/390053 ^@ NM_183357.2(ADCY5):c.304G>A (p.Ala102Thr) http://identifiers.org/clinvar/386054 ^@ NM_007208.3(MRPL3):c.945A>G (p.Pro315=) http://identifiers.org/clinvar/378219 ^@ NM_000258.2(MYL3):c.36T>C (p.Asp12=) http://identifiers.org/clinvar/380418 ^@ NM_133259.3(LRPPRC):c.470-20A>G http://identifiers.org/clinvar/380869 ^@ NM_006514.3(SCN10A):c.2850A>G (p.Lys950=) http://identifiers.org/clinvar/380819 ^@ NM_024582.4(FAT4):c.14177G>A (p.Arg4726Lys) http://identifiers.org/clinvar/383764 ^@ NM_015120.4(ALMS1):c.12092G>A (p.Arg4031Lys) http://identifiers.org/clinvar/391842 ^@ NM_021942.5(TRAPPC11):c.1208G>A (p.Ser403Asn) http://identifiers.org/clinvar/384014 ^@ NM_000816.3(GABRG2):c.548+14A>G http://identifiers.org/clinvar/382562 ^@ NM_022455.4(NSD1):c.7500G>C (p.Met2500Ile) http://identifiers.org/clinvar/392342 ^@ NM_014244.4(ADAMTS2):c.1382+20C>A http://identifiers.org/clinvar/389553 ^@ NM_000038.5(APC):c.4723C>T (p.Leu1575=) http://identifiers.org/clinvar/391942 ^@ NM_000038.5(APC):c.6453A>C (p.Thr2151=) http://identifiers.org/clinvar/384164 ^@ NM_006790.2(MYOT):c.*15T>C http://identifiers.org/clinvar/391792 ^@ NM_020117.10(LARS):c.1287G>C (p.Val429=) http://identifiers.org/clinvar/378575 ^@ NM_000337.5(SGCD):c.193-17T>G http://identifiers.org/clinvar/392192 ^@ NM_013352.3(DSE):c.1004G>A (p.Arg335His) http://identifiers.org/clinvar/377567 ^@ NM_004333.4(BRAF):c.608+14G>A http://identifiers.org/clinvar/380920 ^@ NM_178014.3(TUBB):c.651G>A (p.Leu217=) http://identifiers.org/clinvar/392842 ^@ NM_004415.3(DSP):c.1702-10C>A http://identifiers.org/clinvar/389703 ^@ NM_001101426.3(ISPD):c.790-11C>T http://identifiers.org/clinvar/383914 ^@ NM_018368.3(LMBRD1):c.1023C>T (p.Phe341=) http://identifiers.org/clinvar/393092 ^@ NM_001101.3(ACTB):c.1028G>A (p.Gly343Asp) http://identifiers.org/clinvar/382160 ^@ NM_000535.6(PMS2):c.23+7G>C http://identifiers.org/clinvar/377867 ^@ NM_001999.3(FBN2):c.3848-10G>A http://identifiers.org/clinvar/389003 ^@ NM_021911.2(GABRB2):c.-165A>G http://identifiers.org/clinvar/390353 ^@ NM_003165.3(STXBP1):c.169+18A>C http://identifiers.org/clinvar/383363 ^@ NM_000445.4(PLEC):c.8993G>A (p.Arg2998Gln) http://identifiers.org/clinvar/383012 ^@ NM_022455.4(NSD1):c.3512G>A (p.Arg1171His) http://identifiers.org/clinvar/392592 ^@ NM_001130438.2(SPTAN1):c.3050C>T (p.Pro1017Leu) http://identifiers.org/clinvar/377667 ^@ NM_000742.3(CHRNA2):c.1437C>T (p.His479=) http://identifiers.org/clinvar/389153 ^@ NM_000093.4(COL5A1):c.1809C>T (p.Ala603=) http://identifiers.org/clinvar/390103 ^@ NM_017617.4(NOTCH1):c.1146C>T (p.Asn382=) http://identifiers.org/clinvar/381170 ^@ NM_016035.4(COQ4):c.-25C>T http://identifiers.org/clinvar/393142 ^@ NM_002291.2(LAMB1):c.1693G>A (p.Gly565Arg) http://identifiers.org/clinvar/133599 ^@ NM_015338.5(ASXL1):c.2444C= (p.Pro815=) http://identifiers.org/clinvar/133699 ^@ NM_000057.3(BLM):c.2858T>C (p.Ile953Thr) http://identifiers.org/clinvar/133753 ^@ NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) http://identifiers.org/clinvar/133803 ^@ NM_032415.5(CARD11):c.3454G>A (p.Asp1152Asn) http://identifiers.org/clinvar/133853 ^@ NM_004360.4(CDH1):c.604G>A (p.Val202Ile) http://identifiers.org/clinvar/133903 ^@ NM_015125.4(CIC):c.1927G>A (p.Gly643Ser) http://identifiers.org/clinvar/134105 ^@ NM_000400.3(ERCC2):c.2251A>C (p.Lys751Gln) http://identifiers.org/clinvar/134155 ^@ NM_005236.2(ERCC4):c.1244G>A (p.Arg415Gln) http://identifiers.org/clinvar/134205 ^@ NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) http://identifiers.org/clinvar/134255 ^@ NM_000135.2(FANCA):c.2519C>G (p.Ala840Gly) http://identifiers.org/clinvar/134306 ^@ NM_000136.2(FANCC):c.626G>T (p.Arg209Leu) http://identifiers.org/clinvar/134357 ^@ NM_004629.1(FANCG):c.77A>G (p.Gln26Arg) http://identifiers.org/clinvar/134407 ^@ NM_000142.4(FGFR3):c.2152A>G (p.Asn718Asp) http://identifiers.org/clinvar/134457 ^@ NM_003902.4(FUBP1):c.1429C>T (p.Pro477Ser) http://identifiers.org/clinvar/134507 ^@ NM_000545.6(HNF1A):c.1896A>G (p.Ter632=) http://identifiers.org/clinvar/134557 ^@ NM_004972.3(JAK2):c.3323A>G (p.Asn1108Ser) http://identifiers.org/clinvar/134607 ^@ NM_002253.2(KDR):c.2305G>A (p.Val769Ile) http://identifiers.org/clinvar/134658 ^@ NM_000249.3(MLH1):c.1709A>G (p.Asn570Ser) http://identifiers.org/clinvar/134710 ^@ NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) http://identifiers.org/clinvar/134760 ^@ NM_170606.2(KMT2C):c.5861C>G (p.Ser1954Cys) http://identifiers.org/clinvar/134810 ^@ NM_170606.2(KMT2C):c.709A>G (p.Ile237Val) http://identifiers.org/clinvar/134863 ^@ NM_001128425.1(MUTYH):c.1141G>T (p.Gly381Trp) http://identifiers.org/clinvar/134914 ^@ NM_017617.4(NOTCH1):c.2263_2265delAAT (p.Asn755del) http://identifiers.org/clinvar/134964 ^@ NM_024408.3(NOTCH2):c.3143G>A (p.Arg1048His) http://identifiers.org/clinvar/135014 ^@ NM_006206.4(PDGFRA):c.2306A>T (p.Lys769Met) http://identifiers.org/clinvar/135065 ^@ NM_000535.6(PMS2):c.1621A>G (p.Lys541Glu) http://identifiers.org/clinvar/135116 ^@ NM_000321.2(RB1):c.43G>C (p.Ala15Pro) http://identifiers.org/clinvar/135197 ^@ NM_003002.3(SDHD):c.278A>G (p.Tyr93Cys) http://identifiers.org/clinvar/135247 ^@ NM_001128849.1(SMARCA4):c.1915C>G (p.Leu639Val) http://identifiers.org/clinvar/135298 ^@ NM_001127208.2(TET2):c.5305G>C (p.Ala1769Pro) http://identifiers.org/clinvar/135348 ^@ NM_006290.3(TNFAIP3):c.2231G>A (p.Gly744Asp) http://identifiers.org/clinvar/135399 ^@ NM_000369.2(TSHR):c.2161G>T (p.Val721Phe) http://identifiers.org/clinvar/135449 ^@ NM_000553.4(WRN):c.970A>G (p.Thr324Ala) http://identifiers.org/clinvar/135499 ^@ NM_000545.6(HNF1A):c.1309+89_1309+90insTCATTCATTCAT http://identifiers.org/clinvar/135549 ^@ NM_000215.3(JAK3):c.3207+73G>A http://identifiers.org/clinvar/135613 ^@ NM_002136.3(HNRNPA1):c.950G>A (p.Gly317Asp) http://identifiers.org/clinvar/135684 ^@ NM_000038.5(APC):c.1488A>T (p.Thr496=) http://identifiers.org/clinvar/135735 ^@ NM_000051.3(ATM):c.1748A>C (p.Tyr583Ser) http://identifiers.org/clinvar/135788 ^@ NM_000051.3(ATM):c.9079dupA (p.Ser3027Lysfs) http://identifiers.org/clinvar/135844 ^@ NM_000249.3(MLH1):c.1050A>G (p.Pro350=) http://identifiers.org/clinvar/185649 ^@ NM_002878.3(RAD51D):c.943G>C (p.Gly315Arg) http://identifiers.org/clinvar/187440 ^@ NM_002878.3(RAD51D):c.488C>A (p.Ala163Asp) http://identifiers.org/clinvar/185749 ^@ NM_007294.3(BRCA1):c.4626T>C (p.Ser1542=) http://identifiers.org/clinvar/185399 ^@ NM_007294.3(BRCA1):c.1658A>C (p.His553Pro) http://identifiers.org/clinvar/187240 ^@ NM_007294.3(BRCA1):c.530C>G (p.Ser177Cys) http://identifiers.org/clinvar/185049 ^@ NM_058216.2(RAD51C):c.1027C>T (p.Pro343Ser) http://identifiers.org/clinvar/185149 ^@ NM_032043.2(BRIP1):c.3562G>A (p.Glu1188Lys) http://identifiers.org/clinvar/185199 ^@ NM_032043.2(BRIP1):c.3349T>G (p.Ser1117Ala) http://identifiers.org/clinvar/187640 ^@ NM_000455.4(STK11):c.225G>A (p.Arg75=) http://identifiers.org/clinvar/187290 ^@ NM_007194.3(CHEK2):c.1013T>A (p.Leu338His) http://identifiers.org/clinvar/187794 ^@ NM_005215.3(DCC):c.377C>A (p.Ser126Ter) http://identifiers.org/clinvar/187873 ^@ NM_005957.4(MTHFR):c.379C>T (p.His127Tyr) http://identifiers.org/clinvar/187923 ^@ NM_004409.4(DMPK):c.*224_*226[142] http://identifiers.org/clinvar/187973 ^@ NM_004409.4(DMPK):c.*224_*226[377] http://identifiers.org/clinvar/188023 ^@ NM_004409.4(DMPK):c.*224_*226[71] http://identifiers.org/clinvar/188073 ^@ NM_000251.2(MSH2):c.2281delG (p.Leu762Terfs) http://identifiers.org/clinvar/188175 ^@ NM_000051.3(ATM):c.1358C>T (p.Pro453Leu) http://identifiers.org/clinvar/188124 ^@ NM_000257.3(MYH7):c.2735A>T (p.Lys912Met) http://identifiers.org/clinvar/188543 ^@ NM_000256.3(MYBPC3):c.1223+29G>A http://identifiers.org/clinvar/188643 ^@ NM_000257.3(MYH7):c.5284-45G>T http://identifiers.org/clinvar/188593 ^@ NM_000257.3(MYH7):c.202-26G>A http://identifiers.org/clinvar/188443 ^@ NM_001943.4(DSG2):c.-41_-21del21 http://identifiers.org/clinvar/188493 ^@ NM_001110792.1(MECP2):c.559_1111del553insCG (p.Lys187Argfs) http://identifiers.org/clinvar/189574 ^@ NM_003159.2(CDKL5):c.2497-?_*85del http://identifiers.org/clinvar/189674 ^@ NM_001110792.1(MECP2):c.1444_1447delAACAinsTG (p.Asn482Trpfs) http://identifiers.org/clinvar/189724 ^@ NM_004992.3(MECP2):c.822_1184del363 (p.Val275_Ser395del) http://identifiers.org/clinvar/189624 ^@ NM_004992.3(MECP2):c.1053C>G (p.Pro351=) http://identifiers.org/clinvar/189774 ^@ NM_001110792.1(MECP2):c.49G>A (p.Glu17Lys) http://identifiers.org/clinvar/190008 ^@ NM_001165963.1(SCN1A):c.3550+1G>A http://identifiers.org/clinvar/189858 ^@ NM_001165963.1(SCN1A):c.2879T>G (p.Met960Arg) http://identifiers.org/clinvar/189958 ^@ NM_001165963.1(SCN1A):c.2176+3T>A http://identifiers.org/clinvar/189908 ^@ NM_001165963.1(SCN1A):c.1662+1G>T http://identifiers.org/clinvar/190129 ^@ NM_003413.3(ZIC3):c.49G>T (p.Gly17Cys) http://identifiers.org/clinvar/190193 ^@ NM_001110556.1(FLNA):c.4060G>A (p.Asp1354Asn) http://identifiers.org/clinvar/190249 ^@ NM_021728.3(OTX2):c.316delC (p.Gln106Asnfs) http://identifiers.org/clinvar/190327 ^@ NM_004974.3(KCNA2):c.894G>T (p.Leu298Phe) http://identifiers.org/clinvar/190380 ^@ NM_021926.3(ALX4):c.503delC (p.Pro168Leufs) http://identifiers.org/clinvar/228250 ^@ NM_004403.2(DFNA5):c.(?_863)-60_(1257_?)+61del http://identifiers.org/clinvar/227319 ^@ NM_001277115.1(DNAH11):c.12899G>A (p.Arg4300His) http://identifiers.org/clinvar/229189 ^@ NM_001134363.2(RBM20):c.1769T>A (p.Met590Lys) http://identifiers.org/clinvar/227218 ^@ NM_022124.5(CDH23):c.1956C>T (p.Asn652=) http://identifiers.org/clinvar/227068 ^@ NM_001098668.3(SFTPA2):c.292+11C>T http://identifiers.org/clinvar/227900 ^@ NM_002906.3(RDX):c.471A>G (p.Val157=) http://identifiers.org/clinvar/229289 ^@ NM_005422.2(TECTA):c.2537G>A (p.Gly846Glu) http://identifiers.org/clinvar/226867 ^@ NM_001277269.1(OTOG):c.2310C>T (p.Arg770=) http://identifiers.org/clinvar/227799 ^@ NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) http://identifiers.org/clinvar/226917 ^@ NM_001277269.1(OTOG):c.8277C>T (p.Cys2759=) http://identifiers.org/clinvar/227849 ^@ NM_004572.3(PKP2):c.306C>A (p.Ser102=) http://identifiers.org/clinvar/227419 ^@ NM_021150.3(GRIP1):c.2225T>G (p.Met742Arg) http://identifiers.org/clinvar/226967 ^@ NM_173591.3(OTOGL):c.6256A>G (p.Ile2086Val) http://identifiers.org/clinvar/228350 ^@ NM_004004.5(GJB2):c.523_533delCCCAACACTGT (p.Pro175Glyfs) http://identifiers.org/clinvar/227599 ^@ NM_000257.3(MYH7):c.5286C>T (p.Ala1762=) http://identifiers.org/clinvar/226517 ^@ NM_006383.3(CIB2):c.477C>T (p.Asp159=) http://identifiers.org/clinvar/227749 ^@ NM_144672.3(OTOA):c.2417A>C (p.Tyr806Ser) http://identifiers.org/clinvar/229239 ^@ NM_000336.2(SCNN1B):c.1706C>T (p.Ala569Val) http://identifiers.org/clinvar/227649 ^@ NM_016239.3(MYO15A):c.7069G>A (p.Gly2357Ser) http://identifiers.org/clinvar/226617 ^@ NM_024422.4(DSC2):c.2019C>T (p.Thr673=) http://identifiers.org/clinvar/227699 ^@ NM_003803.3(MYOM1):c.297A>G (p.Thr99=) http://identifiers.org/clinvar/226817 ^@ NM_003803.3(MYOM1):c.290G>T (p.Gly97Val) http://identifiers.org/clinvar/226717 ^@ NM_144612.6(LOXHD1):c.4440G>A (p.Val1480=) http://identifiers.org/clinvar/227519 ^@ NM_144612.6(LOXHD1):c.3672C>T (p.Asp1224=) http://identifiers.org/clinvar/226567 ^@ NM_004006.2(DMD):c.5265C>T (p.Pro1755=) http://identifiers.org/clinvar/227549 ^@ NC_012920.1:m.1415G>A http://identifiers.org/clinvar/227017 ^@ NM_000445.4(PLEC):c.13329G>A (p.Thr4443=) http://identifiers.org/clinvar/227168 ^@ NM_001614.3(ACTG1):c.51C>T (p.Cys17=) http://identifiers.org/clinvar/232591 ^@ NM_000179.2(MSH6):c.3172+5G>T http://identifiers.org/clinvar/233091 ^@ NM_000249.3(MLH1):c.2108_2110dupAAG (p.Glu703_Val704insGlu) http://identifiers.org/clinvar/232540 ^@ NM_000038.5(APC):c.3161A>C (p.His1054Pro) http://identifiers.org/clinvar/264952 ^@ NM_000059.3(BRCA2):c.6842-397G>A http://identifiers.org/clinvar/265004 ^@ NM_173076.2(ABCA12):c.3256A>T (p.Lys1086Ter) http://identifiers.org/clinvar/265512 ^@ NM_000051.3(ATM):c.2080_2081delCT (p.Leu694Serfs) http://identifiers.org/clinvar/265563 ^@ NM_000051.3(ATM):c.5192C>G (p.Ser1731Ter) http://identifiers.org/clinvar/265462 ^@ NM_004183.3(BEST1):c.604C>T (p.Arg202Trp) http://identifiers.org/clinvar/265663 ^@ NM_002834.4(PTPN11):c.1402_1403delACinsGA (p.Thr468Glu) http://identifiers.org/clinvar/265057 ^@ NM_000059.3(BRCA2):c.5120delC (p.Thr1707Metfs) http://identifiers.org/clinvar/265613 ^@ NM_001127221.1(CACNA1A):c.1363C>T (p.Arg455Ter) http://identifiers.org/clinvar/265412 ^@ NM_004006.2(DMD):c.6762+1G>T http://identifiers.org/clinvar/265107 ^@ NM_001399.4(EDA):c.706+1G>A http://identifiers.org/clinvar/265745 ^@ NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr) http://identifiers.org/clinvar/265842 ^@ NM_012343.3(NNT):c.598G>A (p.Gly200Ser) http://identifiers.org/clinvar/265902 ^@ NM_000527.4(LDLR):c.1434G>A (p.Gly478=) http://identifiers.org/clinvar/265953 ^@ NM_198947.3(FAM111B):c.1261_1263delAAG (p.Lys421del) http://identifiers.org/clinvar/266007 ^@ NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) http://identifiers.org/clinvar/266084 ^@ NM_024649.4(BBS1):c.1424dupT (p.Ser476Glufs) http://identifiers.org/clinvar/266834 ^@ NM_000059.3(BRCA2):c.48_50delGACinsATCGATCGAT (p.Thr17Serfs) http://identifiers.org/clinvar/266634 ^@ NM_000059.3(BRCA2):c.1433_1434delCA (p.Thr478Argfs) http://identifiers.org/clinvar/266684 ^@ NM_000059.3(BRCA2):c.2206delG (p.Ala736Glnfs) http://identifiers.org/clinvar/266734 ^@ NM_000059.3(BRCA2):c.3068delA (p.Asn1023Thrfs) http://identifiers.org/clinvar/266784 ^@ NM_000059.3(BRCA2):c.3972_3973delTA (p.Thr1325Cysfs) http://identifiers.org/clinvar/266884 ^@ NM_000059.3(BRCA2):c.5609dupT (p.Ser1871Glnfs) http://identifiers.org/clinvar/266934 ^@ NM_000059.3(BRCA2):c.6260_6263delGAAC (p.Arg2087Metfs) http://identifiers.org/clinvar/266484 ^@ NM_007294.3(BRCA1):c.4573C>T (p.Gln1525Ter) http://identifiers.org/clinvar/266434 ^@ NM_007294.3(BRCA1):c.4062_4066delTAATC (p.Asn1354Lysfs) http://identifiers.org/clinvar/266384 ^@ NM_007294.3(BRCA1):c.3564dupG (p.Ser1189Glufs) http://identifiers.org/clinvar/266334 ^@ NM_007294.3(BRCA1):c.3109_3110insT (p.Lys1037Ilefs) http://identifiers.org/clinvar/266234 ^@ NM_007294.3(BRCA1):c.2195_2196delAAinsG (p.Glu732Glyfs) http://identifiers.org/clinvar/266184 ^@ NM_007294.3(BRCA1):c.1749_1755delAGCTGAA (p.Lys583Asnfs) http://identifiers.org/clinvar/266134 ^@ NM_007294.3(BRCA1):c.1044_1047delTGAG (p.Cys348Terfs) http://identifiers.org/clinvar/266584 ^@ NM_007294.3(BRCA1):c.829_836delAATACTCA (p.Asn277Cysfs) http://identifiers.org/clinvar/266284 ^@ NM_007294.3(BRCA1):c.260T>A (p.Leu87Ter) http://identifiers.org/clinvar/267730 ^@ NM_024301.4(FKRP):c.402_403delGG (p.Ala135Terfs) http://identifiers.org/clinvar/267809 ^@ 46;XY;t(8;9)(q13;p22)dn http://identifiers.org/clinvar/267860 ^@ 46;X;t(X;12)(p11.2;q24.33)dn http://identifiers.org/clinvar/267910 ^@ 46;XX;t(11;17)(q13;q25)dn http://identifiers.org/clinvar/267960 ^@ 46;XY;t(16;17)(p13.3;p11.1) http://identifiers.org/clinvar/268010 ^@ 46;XX;t(2;10)(p23;q22.1)dn http://identifiers.org/clinvar/268063 ^@ NC_000023.10:g.(?_154256858)_(154297348_?)del http://identifiers.org/clinvar/268126 ^@ NM_018263.5(ASXL2):c.2971_2974delGGAG (p.Gly991Argfs) http://identifiers.org/clinvar/268194 ^@ NC_000009.11:g.(?_5900207)_(6501065_?)dup http://identifiers.org/clinvar/279606 ^@ NM_030813.5(CLPB):c.815A>G (p.Tyr272Cys) http://identifiers.org/clinvar/290913 ^@ NM_012210.3(TRIM32):c.238C>T (p.Leu80=) http://identifiers.org/clinvar/290963 ^@ NM_138694.3(PKHD1):c.2093G>A (p.Gly698Asp) http://identifiers.org/clinvar/291013 ^@ NM_001172435.1(RAB3GAP1):c.1612G>A (p.Ala538Thr) http://identifiers.org/clinvar/291063 ^@ NM_020631.4(PLEKHG5):c.796-9T>G http://identifiers.org/clinvar/291113 ^@ NM_000057.3(BLM):c.2919C>T (p.Tyr973=) http://identifiers.org/clinvar/291164 ^@ NM_194248.2(OTOF):c.2690G>A (p.Arg897Gln) http://identifiers.org/clinvar/291214 ^@ NM_000231.2(SGCG):c.17A>G (p.Tyr6Cys) http://identifiers.org/clinvar/291264 ^@ NM_022437.2(ABCG8):c.712G>A (p.Glu238Lys) http://identifiers.org/clinvar/291671 ^@ NM_004565.2(PEX14):c.78G>A (p.Glu26=) http://identifiers.org/clinvar/291771 ^@ NM_007375.3(TARDBP):c.*2829dupT http://identifiers.org/clinvar/291621 ^@ NM_015074.3(KIF1B):c.*2321A>G http://identifiers.org/clinvar/291721 ^@ NM_005272.3(GNAT2):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/291871 ^@ NM_013319.2(UBIAD1):c.*94G>A http://identifiers.org/clinvar/291921 ^@ NM_003051.3(SLC16A1):c.-313T>C http://identifiers.org/clinvar/291821 ^@ NM_013319.2(UBIAD1):c.224C>T (p.Ser75Phe) http://identifiers.org/clinvar/291971 ^@ NM_002524.4(NRAS):c.*536C>T http://identifiers.org/clinvar/292021 ^@ NM_138959.2(VANGL1):c.*340C>G http://identifiers.org/clinvar/292071 ^@ NM_138959.2(VANGL1):c.*3720T>C http://identifiers.org/clinvar/292121 ^@ NM_001232.3(CASQ2):c.*503G>A http://identifiers.org/clinvar/292171 ^@ NM_005957.4(MTHFR):c.*3400_*3402dupTTC http://identifiers.org/clinvar/293860 ^@ NM_033343.3(LHX4):c.91G>A (p.Ala31Thr) http://identifiers.org/clinvar/293810 ^@ NM_003000.2(SDHB):c.454T>C (p.Ser152Pro) http://identifiers.org/clinvar/294060 ^@ NM_005562.2(LAMC2):c.*1686G>A http://identifiers.org/clinvar/294010 ^@ NM_005562.2(LAMC2):c.2634G>A (p.Ala878=) http://identifiers.org/clinvar/294110 ^@ NM_031935.2(HMCN1):c.1589C>T (p.Thr530Ile) http://identifiers.org/clinvar/294160 ^@ NM_031935.2(HMCN1):c.5070A>T (p.Ile1690=) http://identifiers.org/clinvar/294210 ^@ NM_031935.2(HMCN1):c.9474A>G (p.Arg3158=) http://identifiers.org/clinvar/294310 ^@ NM_031935.2(HMCN1):c.16731T>C (p.Thr5577=) http://identifiers.org/clinvar/294360 ^@ NM_003748.3(ALDH4A1):c.*35C>T http://identifiers.org/clinvar/294460 ^@ NM_024529.4(CDC73):c.*3266A>G http://identifiers.org/clinvar/294510 ^@ NM_000186.3(CFH):c.2850G>T (p.Gln950His) http://identifiers.org/clinvar/293610 ^@ NM_000130.4(F5):c.3311C>A (p.Ser1104Tyr) http://identifiers.org/clinvar/294660 ^@ NM_018136.4(ASPM):c.-28G>A http://identifiers.org/clinvar/294710 ^@ NM_000069.2(CACNA1S):c.4882C>T (p.Leu1628Phe) http://identifiers.org/clinvar/293760 ^@ NM_022089.3(ATP13A2):c.*158T>C http://identifiers.org/clinvar/294760 ^@ NM_000069.2(CACNA1S):c.1678G>A (p.Ala560Thr) http://identifiers.org/clinvar/293660 ^@ NM_152281.2(GORAB):c.738-12A>G http://identifiers.org/clinvar/294910 ^@ NM_003465.2(CHIT1):c.1325C>G (p.Ala442Gly) http://identifiers.org/clinvar/293710 ^@ NM_000261.1(MYOC):c.992C>T (p.Ser331Leu) http://identifiers.org/clinvar/293910 ^@ NM_002065.6(GLUL):c.*1563_*1566delCTTT http://identifiers.org/clinvar/344241 ^@ NM_181426.1(CCDC39):c.*546A>C http://identifiers.org/clinvar/344741 ^@ NM_015141.3(GPD1L):c.*637C>T http://identifiers.org/clinvar/344841 ^@ NM_006371.4(CRTAP):c.*1614G>A http://identifiers.org/clinvar/345091 ^@ NM_198056.2(SCN5A):c.*889C>A http://identifiers.org/clinvar/336533 ^@ NM_001135659.2(NRXN1):c.*613delA http://identifiers.org/clinvar/344291 ^@ NM_145261.3(DNAJC19):c.*441G>A http://identifiers.org/clinvar/344341 ^@ NM_003907.2(EIF2B5):c.*128T>C http://identifiers.org/clinvar/345391 ^@ NM_020208.3(SLC6A20):c.*446G>A http://identifiers.org/clinvar/345541 ^@ NM_024513.3(FYCO1):c.325C>T (p.Arg109Cys) http://identifiers.org/clinvar/344691 ^@ NM_003242.5(TGFBR2):c.*1075C>T http://identifiers.org/clinvar/345591 ^@ NM_000316.2(PTH1R):c.876G>T (p.Leu292=) http://identifiers.org/clinvar/344891 ^@ NM_006371.4(CRTAP):c.*4774C>T http://identifiers.org/clinvar/345791 ^@ NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) http://identifiers.org/clinvar/345891 ^@ NM_000094.3(COL7A1):c.89C>T (p.Thr30Ile) http://identifiers.org/clinvar/345941 ^@ NM_000387.5(SLC25A20):c.358T>C (p.Ser120Pro) http://identifiers.org/clinvar/337472 ^@ NM_017849.3(TMEM127):c.*1958A>C http://identifiers.org/clinvar/345141 ^@ NM_017875.2(SLC25A38):c.-161G>A http://identifiers.org/clinvar/345191 ^@ NM_018075.4(ANO10):c.632A>G (p.Tyr211Cys) http://identifiers.org/clinvar/337522 ^@ NM_014014.4(SNRNP200):c.*61T>C http://identifiers.org/clinvar/345341 ^@ NM_020208.3(SLC6A20):c.*3486A>G http://identifiers.org/clinvar/342252 ^@ NM_033084.4(FANCD2):c.-33-13G>A http://identifiers.org/clinvar/345441 ^@ NM_024513.3(FYCO1):c.*3366T>G http://identifiers.org/clinvar/345491 ^@ NM_024513.3(FYCO1):c.*132C>T http://identifiers.org/clinvar/342502 ^@ NM_000551.3(VHL):c.*3395C>T http://identifiers.org/clinvar/342352 ^@ NM_016247.3(IMPG2):c.1223C>T (p.Thr408Met) http://identifiers.org/clinvar/342602 ^@ NM_000796.5(DRD3):c.270+14A>G http://identifiers.org/clinvar/342952 ^@ NM_000373.3(UMPS):c.*1155T>C http://identifiers.org/clinvar/361856 ^@ NM_004519.3(KCNQ3):c.*1050A>C http://identifiers.org/clinvar/361906 ^@ NM_003235.4(TG):c.66C>T (p.Phe22=) http://identifiers.org/clinvar/354018 ^@ NM_000082.3(ERCC8):c.430G>A (p.Val144Ile) http://identifiers.org/clinvar/362845 ^@ NM_000349.2(STAR):c.484A>C (p.Lys162Gln) http://identifiers.org/clinvar/362995 ^@ NM_000037.3(ANK1):c.4047C>T (p.Tyr1349=) http://identifiers.org/clinvar/363095 ^@ NM_006749.4(SLC20A2):c.-89A>G http://identifiers.org/clinvar/363395 ^@ NM_017813.4(IMPAD1):c.*415_*416delTC http://identifiers.org/clinvar/355208 ^@ NM_006073.3(TRDN):c.*61A>G http://identifiers.org/clinvar/355108 ^@ NM_000493.3(COL10A1):c.273A>G (p.Gln91=) http://identifiers.org/clinvar/363595 ^@ NM_004820.4(CYP7B1):c.-144C>T http://identifiers.org/clinvar/355408 ^@ NM_006208.2(ENPP1):c.*2835_*2837delCAT http://identifiers.org/clinvar/363795 ^@ NM_000318.2(PEX2):c.*1448C>T http://identifiers.org/clinvar/363995 ^@ NM_177965.3(C8orf37):c.*944A>C http://identifiers.org/clinvar/355608 ^@ NM_003764.3(STX11):c.*606C>G http://identifiers.org/clinvar/361046 ^@ NM_017890.4(VPS13B):c.2651-12A>G http://identifiers.org/clinvar/364595 ^@ NM_005592.3(MUSK):c.-82T>C http://identifiers.org/clinvar/355758 ^@ NM_203395.2(IYD):c.*3995A>C http://identifiers.org/clinvar/364695 ^@ NM_015404.3(WHRN):c.1014A>G (p.Leu338=) http://identifiers.org/clinvar/355808 ^@ NM_033071.3(SYNE1):c.25299G>C (p.Gln8433His) http://identifiers.org/clinvar/356158 ^@ NM_001080.3(ALDH5A1):c.*970C>T http://identifiers.org/clinvar/356258 ^@ NM_000063.5(C2):c.2046A>G (p.Ala682=) http://identifiers.org/clinvar/356108 ^@ NM_000367.4(TPMT):c.*414G>A http://identifiers.org/clinvar/360946 ^@ NM_000089.3(COL1A2):c.475G>A (p.Val159Ile) http://identifiers.org/clinvar/361447 ^@ NM_001385.2(DPYS):c.*70A>T http://identifiers.org/clinvar/361196 ^@ NM_178857.5(RP1L1):c.*226G>C http://identifiers.org/clinvar/361246 ^@ NM_178857.5(RP1L1):c.5618A>G (p.Asp1873Gly) http://identifiers.org/clinvar/365884 ^@ NM_019892.5(INPP5E):c.1380C>T (p.Ser460=) http://identifiers.org/clinvar/365985 ^@ NM_016219.4(MAN1B1):c.*393A>G http://identifiers.org/clinvar/357147 ^@ NM_001024630.3(RUNX2):c.*3642C>T http://identifiers.org/clinvar/311585 ^@ NM_018451.4(CENPJ):c.*783C>T http://identifiers.org/clinvar/311685 ^@ NM_004795.3(KL):c.560C>T (p.Pro187Leu) http://identifiers.org/clinvar/311785 ^@ NM_000538.3(RFXAP):c.312C>T (p.Ser104=) http://identifiers.org/clinvar/304176 ^@ NM_022725.3(FANCF):c.*1630G>A http://identifiers.org/clinvar/364195 ^@ NM_033087.3(ALG2):c.*1470_*1472delATT http://identifiers.org/clinvar/312824 ^@ NM_001126106.2(SLC7A7):c.456C>T (p.Phe152=) http://identifiers.org/clinvar/312924 ^@ NM_006177.3(NRL):c.*1118G>A http://identifiers.org/clinvar/304626 ^@ NM_021926.3(ALX4):c.*3016G>A http://identifiers.org/clinvar/313474 ^@ NM_005982.3(SIX1):c.-213C>G http://identifiers.org/clinvar/299498 ^@ NM_001081.3(CUBN):c.2791+9C>T http://identifiers.org/clinvar/313774 ^@ NM_000347.5(SPTB):c.940C>G (p.Leu314Val) http://identifiers.org/clinvar/299548 ^@ NM_001081.3(CUBN):c.-35G>C http://identifiers.org/clinvar/299598 ^@ NM_201590.2(CACNB2):c.*647G>T http://identifiers.org/clinvar/299648 ^@ NM_017433.4(MYO3A):c.859A>C (p.Ile287Leu) http://identifiers.org/clinvar/299698 ^@ NM_014317.4(PDSS1):c.426G>A (p.Ala142=) http://identifiers.org/clinvar/314124 ^@ NM_031427.3(DNAL1):c.*6147_*6148insCG http://identifiers.org/clinvar/299748 ^@ NM_014915.2(ANKRD26):c.1364-17_1364-15delTAT http://identifiers.org/clinvar/299448 ^@ NM_001081.3(CUBN):c.5961A>G (p.Ala1987=) http://identifiers.org/clinvar/300048 ^@ NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) http://identifiers.org/clinvar/314774 ^@ NM_018418.4(SPATA7):c.-32G>T http://identifiers.org/clinvar/300298 ^@ NM_018055.4(NODAL):c.*62A>T http://identifiers.org/clinvar/300348 ^@ NM_000281.3(PCBD1):c.-15G>C http://identifiers.org/clinvar/306141 ^@ NM_006755.1(TALDO1):c.982-8_982-5delGTTT http://identifiers.org/clinvar/315363 ^@ NM_144599.4(NIPA1):c.*3278C>G http://identifiers.org/clinvar/299898 ^@ NM_020975.4(RET):c.2467G>A (p.Gly823Arg) http://identifiers.org/clinvar/300548 ^@ NM_004273.4(CHST3):c.-294C>G http://identifiers.org/clinvar/315613 ^@ NM_133647.1(SLC12A6):c.1752A>C (p.Gly584=) http://identifiers.org/clinvar/300698 ^@ NM_016065.3(MRPS16):c.*922G>A http://identifiers.org/clinvar/300098 ^@ NM_000124.3(ERCC6):c.-52G>A http://identifiers.org/clinvar/329286 ^@ NM_181882.2(PRX):c.500G>C (p.Arg167Pro) http://identifiers.org/clinvar/329336 ^@ NM_030578.3(B9D2):c.*153G>C http://identifiers.org/clinvar/329586 ^@ NM_025136.3(OPA3):c.*5496C>T http://identifiers.org/clinvar/318155 ^@ NM_001143979.1(NDE1):c.*2090T>C http://identifiers.org/clinvar/311735 ^@ NM_004795.3(KL):c.*1950C>A http://identifiers.org/clinvar/318455 ^@ NM_153603.3(COG7):c.*295delA http://identifiers.org/clinvar/318705 ^@ NM_020705.2(TBC1D24):c.*4462C>T http://identifiers.org/clinvar/318955 ^@ NM_001330.3(CTF1):c.347C>G (p.Pro116Arg) http://identifiers.org/clinvar/337772 ^@ NM_000214.2(JAG1):c.-385T>G http://identifiers.org/clinvar/319255 ^@ NM_032575.2(GLIS2):c.*1203C>G http://identifiers.org/clinvar/338372 ^@ NM_005461.4(MAFB):c.*2008T>A http://identifiers.org/clinvar/338422 ^@ NM_000457.4(HNF4A):c.-106_-103delAAGG http://identifiers.org/clinvar/312974 ^@ NM_000359.2(TGM1):c.1967G>A (p.Arg656Gln) http://identifiers.org/clinvar/320145 ^@ NM_004614.4(TK2):c.*1044C>A http://identifiers.org/clinvar/311635 ^@ NM_018451.4(CENPJ):c.-148C>T http://identifiers.org/clinvar/313324 ^@ NM_002863.4(PYGL):c.1683C>T (p.Ser561=) http://identifiers.org/clinvar/320545 ^@ NM_021615.4(CHST6):c.*2902dupC http://identifiers.org/clinvar/320595 ^@ NM_021615.4(CHST6):c.*377G>A http://identifiers.org/clinvar/313374 ^@ NM_000161.2(GCH1):c.*1010C>T http://identifiers.org/clinvar/320695 ^@ NM_022041.3(GAN):c.*1455delT http://identifiers.org/clinvar/320845 ^@ NM_020686.5(ABAT):c.309C>T (p.Val103=) http://identifiers.org/clinvar/313624 ^@ NM_182914.2(SYNE2):c.16480-9T>G http://identifiers.org/clinvar/339562 ^@ NM_000933.3(PLCB4):c.1428T>C (p.Ala476=) http://identifiers.org/clinvar/339762 ^@ NM_000219.5(KCNE1):c.*490G>C http://identifiers.org/clinvar/339812 ^@ NM_001754.4(RUNX1):c.*3277G>T http://identifiers.org/clinvar/321345 ^@ NM_000135.2(FANCA):c.2602-14A>C http://identifiers.org/clinvar/321395 ^@ NM_002386.3(MC1R):c.-909A>G http://identifiers.org/clinvar/339912 ^@ NM_000411.6(HLCS):c.*3209C>T http://identifiers.org/clinvar/321445 ^@ NM_002386.3(MC1R):c.*157C>A http://identifiers.org/clinvar/339962 ^@ NM_000411.6(HLCS):c.1416C>A (p.Ala472=) http://identifiers.org/clinvar/340112 ^@ NM_000394.3(CRYAA):c.*485G>A http://identifiers.org/clinvar/314224 ^@ NM_182894.2(VSX2):c.*1377C>T http://identifiers.org/clinvar/326447 ^@ NM_177986.4(DSG4):c.2442C>T (p.Pro814=) http://identifiers.org/clinvar/328436 ^@ NM_173483.3(CYP4F22):c.736C>T (p.Arg246Cys) http://identifiers.org/clinvar/328586 ^@ NM_005535.2(IL12RB1):c.1149C>T (p.Cys383=) http://identifiers.org/clinvar/328636 ^@ NM_003721.3(RFXANK):c.-298C>T http://identifiers.org/clinvar/328686 ^@ NM_001031726.3(C19orf12):c.*2270T>G http://identifiers.org/clinvar/326997 ^@ NM_001080467.2(MYO5B):c.*68A>T http://identifiers.org/clinvar/328786 ^@ NM_000285.3(PEPD):c.1345-11G>C http://identifiers.org/clinvar/328886 ^@ NM_004646.3(NPHS1):c.-61G>A http://identifiers.org/clinvar/327247 ^@ NM_001083962.1(TCF4):c.*4081_*4084delTCTT http://identifiers.org/clinvar/368303 ^@ NM_006915.2(RP2):c.-70A>G http://identifiers.org/clinvar/327397 ^@ NM_000140.3(FECH):c.*1287_*1288insTTTA http://identifiers.org/clinvar/329236 ^@ NM_016941.3(DLL3):c.1030G>C (p.Gly344Arg) http://identifiers.org/clinvar/368553 ^@ NM_006306.3(SMC1A):c.*4581T>C http://identifiers.org/clinvar/368603 ^@ NM_013444.3(UBQLN2):c.-277A>C http://identifiers.org/clinvar/329386 ^@ NM_001022.3(RPS19):c.-74C>T http://identifiers.org/clinvar/368703 ^@ NM_153252.4(BRWD3):c.*3083G>T http://identifiers.org/clinvar/327747 ^@ NM_003839.3(TNFRSF11A):c.*501G>A http://identifiers.org/clinvar/329736 ^@ NM_000554.5(CRX):c.*1148G>C http://identifiers.org/clinvar/328536 ^@ NM_000453.2(SLC5A5):c.424-12C>A http://identifiers.org/clinvar/337722 ^@ NM_000214.2(JAG1):c.*1133_*1136delACTT http://identifiers.org/clinvar/328986 ^@ NM_000540.2(RYR1):c.-81dupC http://identifiers.org/clinvar/338022 ^@ NM_006899.4(IDH3B):c.624G>C (p.Lys208Asn) http://identifiers.org/clinvar/329186 ^@ NM_033064.4(ATCAY):c.*1586T>C http://identifiers.org/clinvar/338172 ^@ NM_006892.3(DNMT3B):c.1760-9C>T http://identifiers.org/clinvar/338222 ^@ NM_003098.2(SNTA1):c.-96G>C http://identifiers.org/clinvar/338272 ^@ NM_000687.3(AHCY):c.855-8C>T http://identifiers.org/clinvar/329436 ^@ NM_152296.4(ATP1A3):c.-118_-115delGACG http://identifiers.org/clinvar/329486 ^@ NM_212550.4(BLOC1S3):c.*553A>T http://identifiers.org/clinvar/338472 ^@ NM_000457.4(HNF4A):c.*2558T>C http://identifiers.org/clinvar/329536 ^@ NM_202001.2(ERCC1):c.390T>C (p.Tyr130=) http://identifiers.org/clinvar/338572 ^@ NM_001250.5(CD40):c.339T>C (p.Ser113=) http://identifiers.org/clinvar/329636 ^@ NM_025136.3(OPA3):c.*2696C>G http://identifiers.org/clinvar/338672 ^@ NM_000311.4(PRNP):c.*1281A>G http://identifiers.org/clinvar/340012 ^@ NM_020639.2(RIPK4):c.2145C>T (p.His715=) http://identifiers.org/clinvar/337872 ^@ NM_000361.2(THBD):c.*338C>T http://identifiers.org/clinvar/340212 ^@ NM_130445.3(COL18A1):c.1059G>A (p.Arg353=) http://identifiers.org/clinvar/338322 ^@ NM_000557.4(GDF5):c.349G>T (p.Ala117Ser) http://identifiers.org/clinvar/340663 ^@ NM_014339.6(IL17RA):c.*2703G>A http://identifiers.org/clinvar/338722 ^@ NM_006420.2(ARFGEF2):c.*1422A>G http://identifiers.org/clinvar/341213 ^@ NM_000355.3(TCN2):c.1092G>A (p.Glu364=) http://identifiers.org/clinvar/339462 ^@ NM_012469.3(PRPF6):c.57G>A (p.Pro19=) http://identifiers.org/clinvar/383563 ^@ NM_004329.2(BMPR1A):c.431-5G>T http://identifiers.org/clinvar/380117 ^@ NM_004329.2(BMPR1A):c.1152T>C (p.Ala384=) http://identifiers.org/clinvar/386254 ^@ NM_020822.2(KCNT1):c.1998C>T (p.Ile666=) http://identifiers.org/clinvar/378474 ^@ NM_001134363.2(RBM20):c.3513G>A (p.Thr1171=) http://identifiers.org/clinvar/382962 ^@ NM_203447.3(DOCK8):c.333-12C>G http://identifiers.org/clinvar/392492 ^@ NM_018109.3(MTPAP):c.556-11C>T http://identifiers.org/clinvar/378017 ^@ NM_000218.2(KCNQ1):c.921+7C>T http://identifiers.org/clinvar/380267 ^@ NM_004329.2(BMPR1A):c.762T>C (p.Arg254=) http://identifiers.org/clinvar/378373 ^@ NM_000445.4(PLEC):c.11816G>A (p.Arg3939Gln) http://identifiers.org/clinvar/380518 ^@ NM_030813.5(CLPB):c.884G>C (p.Arg295Thr) http://identifiers.org/clinvar/391892 ^@ NM_007078.2(LDB3):c.253C>T (p.Arg85Cys) http://identifiers.org/clinvar/377467 ^@ NM_000037.3(ANK1):c.563C>T (p.Thr188Met) http://identifiers.org/clinvar/380217 ^@ NM_006231.3(POLE):c.6252A>G (p.Ser2084=) http://identifiers.org/clinvar/389303 ^@ NM_006231.3(POLE):c.3219G>T (p.Gly1073=) http://identifiers.org/clinvar/377517 ^@ NM_000051.3(ATM):c.5005+17C>G http://identifiers.org/clinvar/380017 ^@ NM_001278503.1(STT3A):c.1911C>T (p.Cys637=) http://identifiers.org/clinvar/378069 ^@ NM_006059.3(LAMC3):c.2517G>A (p.Thr839=) http://identifiers.org/clinvar/382612 ^@ NM_018389.4(SLC35C1):c.1032G>A (p.Glu344=) http://identifiers.org/clinvar/391292 ^@ NM_014191.3(SCN8A):c.1717C>A (p.Arg573=) http://identifiers.org/clinvar/384464 ^@ NM_013251.3(TAC3):c.*2T>C http://identifiers.org/clinvar/382110 ^@ NM_004990.3(MARS):c.369C>T (p.His123=) http://identifiers.org/clinvar/380769 ^@ NM_001478.4(B4GALNT1):c.103C>G (p.Leu35Val) http://identifiers.org/clinvar/386404 ^@ NM_001007026.1(ATN1):c.3184C>G (p.His1062Asp) http://identifiers.org/clinvar/384064 ^@ NM_020822.2(KCNT1):c.3178-16G>T http://identifiers.org/clinvar/382361 ^@ NM_021957.3(GYS2):c.831T>C (p.Val277=) http://identifiers.org/clinvar/377416 ^@ NM_020297.3(ABCC9):c.4512+16C>T http://identifiers.org/clinvar/379917 ^@ NM_003070.4(SMARCA2):c.3446A>G (p.Asn1149Ser) http://identifiers.org/clinvar/393042 ^@ NM_006231.3(POLE):c.6018C>T (p.Ala2006=) http://identifiers.org/clinvar/378424 ^@ NM_153026.2(PRICKLE1):c.1647G>A (p.Ser549=) http://identifiers.org/clinvar/383162 ^@ NM_006231.3(POLE):c.1596C>T (p.His532=) http://identifiers.org/clinvar/380468 ^@ NM_001844.4(COL2A1):c.3102T>C (p.Pro1034=) http://identifiers.org/clinvar/381020 ^@ NM_000059.3(BRCA2):c.-23T>C http://identifiers.org/clinvar/380618 ^@ NM_000138.4(FBN1):c.2678-3C>T http://identifiers.org/clinvar/386304 ^@ NM_000314.6(PTEN):c.634+17C>T http://identifiers.org/clinvar/381120 ^@ NM_006493.2(CLN5):c.320+16C>A http://identifiers.org/clinvar/392692 ^@ NM_002860.3(ALDH18A1):c.2160C>T (p.Phe720=) http://identifiers.org/clinvar/392442 ^@ NM_001376.4(DYNC1H1):c.7587G>A (p.Ala2529=) http://identifiers.org/clinvar/392992 ^@ NM_030962.3(SBF2):c.463C>A (p.Leu155Ile) http://identifiers.org/clinvar/382812 ^@ NM_005477.2(HCN4):c.3126G>A (p.Pro1042=) http://identifiers.org/clinvar/390303 ^@ NM_020778.4(ALPK3):c.1441G>T (p.Glu481Ter) http://identifiers.org/clinvar/383613 ^@ NM_001271.3(CHD2):c.4413+15C>T http://identifiers.org/clinvar/382060 ^@ NM_005050.3(ABCD4):c.1023G>A (p.Thr341=) http://identifiers.org/clinvar/382211 ^@ NM_021098.2(CACNA1H):c.829C>T (p.Pro277Ser) http://identifiers.org/clinvar/382411 ^@ NM_002225.3(IVD):c.238C>T (p.Leu80=) http://identifiers.org/clinvar/381070 ^@ NM_000920.3(PC):c.96G>A (p.Leu32=) http://identifiers.org/clinvar/392792 ^@ NM_001083614.1(EARS2):c.700G>C (p.Val234Leu) http://identifiers.org/clinvar/378319 ^@ NM_024675.3(PALB2):c.2834+15A>G http://identifiers.org/clinvar/389903 ^@ NM_006888.4(CALM1):c.4-10C>G http://identifiers.org/clinvar/380668 ^@ NM_021625.4(TRPV4):c.1658+15C>T http://identifiers.org/clinvar/392242 ^@ NM_000138.4(FBN1):c.153C>A (p.Asp51Glu) http://identifiers.org/clinvar/383062 ^@ NM_002474.2(MYH11):c.459C>T (p.His153=) http://identifiers.org/clinvar/390203 ^@ NM_001127464.2(ZNF469):c.6717A>T (p.Arg2239=) http://identifiers.org/clinvar/380367 ^@ NM_013275.5(ANKRD11):c.4932G>A (p.Gly1644=) http://identifiers.org/clinvar/390153 ^@ NM_020778.4(ALPK3):c.3050G>A (p.Gly1017Glu) http://identifiers.org/clinvar/382712 ^@ NM_006231.3(POLE):c.2481C>T (p.Tyr827=) http://identifiers.org/clinvar/47418 ^@ NM_133378.4(TTN):c.75094G>A (p.Ala25032Thr) http://identifiers.org/clinvar/47469 ^@ NM_133378.4(TTN):c.80104G>A (p.Val26702Ile) http://identifiers.org/clinvar/47519 ^@ NM_133378.4(TTN):c.84427G>A (p.Val28143Met) http://identifiers.org/clinvar/47569 ^@ NM_133378.4(TTN):c.88582G>A (p.Ala29528Thr) http://identifiers.org/clinvar/47619 ^@ NM_133378.4(TTN):c.92110C>T (p.Leu30704Phe) http://identifiers.org/clinvar/47669 ^@ NM_001256850.1(TTN):c.99442G>A (p.Glu33148Lys) http://identifiers.org/clinvar/47719 ^@ NM_133378.4(TTN):c.99581G>A (p.Arg33194Gln) http://identifiers.org/clinvar/47769 ^@ NM_001256850.1(TTN):c.10360+4968T>C http://identifiers.org/clinvar/47819 ^@ NM_133432.3(TTN):c.11467G>A (p.Ala3823Thr) http://identifiers.org/clinvar/47869 ^@ NM_138691.2(TMC1):c.241G>A (p.Glu81Lys) http://identifiers.org/clinvar/47919 ^@ NM_144612.6(LOXHD1):c.1708G>A (p.Asp570Asn) http://identifiers.org/clinvar/112 ^@ NM_022067.3(VIPAS39):c.749_753delCAGAA (p.Thr250Argfs) http://identifiers.org/clinvar/634 ^@ NM_000277.1(PAH):c.1129delT (p.Tyr377Thrfs) http://identifiers.org/clinvar/643 ^@ NM_000130.4(F5):c.1000A>G (p.Arg334Gly) http://identifiers.org/clinvar/783 ^@ NM_213595.3(ISCU):c.149G>A (p.Gly50Glu) http://identifiers.org/clinvar/847 ^@ NM_173500.3(TTBK2):c.1329dupA (p.Arg444Thrfs) http://identifiers.org/clinvar/884 ^@ NM_000046.3(ARSB):c.284G>A (p.Arg95Gln) http://identifiers.org/clinvar/893 ^@ NM_000181.3(GUSB):c.1856C>T (p.Ala619Val) http://identifiers.org/clinvar/1129 ^@ NM_015139.2(SLC35D1):c.193A>C (p.Thr65Pro) http://identifiers.org/clinvar/1160 ^@ PFKM, 1-BP DEL, 2003C http://identifiers.org/clinvar/1205 ^@ NM_000429.2(MAT1A):c.914T>C (p.Leu305Pro) http://identifiers.org/clinvar/1256 ^@ NM_001146289.1(P3H1):c.1656C>A (p.Tyr552Ter) http://identifiers.org/clinvar/10427 ^@ NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) http://identifiers.org/clinvar/10475 ^@ NM_000032.4(ALAS2):c.1231C>T (p.Arg411Cys) http://identifiers.org/clinvar/10520 ^@ GPR143, 420G-A http://identifiers.org/clinvar/10566 ^@ F9, GLU7ASP http://identifiers.org/clinvar/10610 ^@ F9, TRP310TER http://identifiers.org/clinvar/10656 ^@ NM_000133.3(F9):c.31T>A (p.Ser11Thr) http://identifiers.org/clinvar/10701 ^@ NM_203473.2(PORCN):c.178G>A (p.Gly60Arg) http://identifiers.org/clinvar/10747 ^@ GLA, IVS5AS, DEL -2,-3 http://identifiers.org/clinvar/10792 ^@ NM_152692.4(C1GALT1C1):c.393T>A (p.Asp131Glu) http://identifiers.org/clinvar/10837 ^@ NM_000054.4(AVPR2):c.553G>T (p.Gly185Cys) http://identifiers.org/clinvar/10882 ^@ NM_000284.3(PDHA1):c.615C>G (p.Phe205Leu) http://identifiers.org/clinvar/10928 ^@ CYBB, EX12DEL http://identifiers.org/clinvar/10974 ^@ NR0B1, 2.2-KB DEL/27-BP INS http://identifiers.org/clinvar/11018 ^@ NM_001184880.1(PCDH19):c.2012C>G (p.Ser671Ter) http://identifiers.org/clinvar/11063 ^@ NM_001015877.1(PHF6):c.1024C>T (p.Arg342Ter) http://identifiers.org/clinvar/11108 ^@ NM_000116.4(TAZ):c.352T>C (p.Cys118Arg) http://identifiers.org/clinvar/11153 ^@ NM_000390.3(CHM):c.1497C>A (p.Cys499Ter) http://identifiers.org/clinvar/11244 ^@ DMD, 11-BP DEL, NT989 http://identifiers.org/clinvar/11334 ^@ NM_001109878.1(TBX22):c.641T>C (p.Leu214Pro) http://identifiers.org/clinvar/11380 ^@ BTK, 4-BP DEL, CODON 527, GTTT http://identifiers.org/clinvar/11439 ^@ NM_003413.3(ZIC3):c.649C>G (p.Pro217Ala) http://identifiers.org/clinvar/11490 ^@ NM_006579.2(EBP):c.523C>T (p.Gln175Ter) http://identifiers.org/clinvar/11541 ^@ NM_003611.2(OFD1):c.1887_1888insAT (p.Asn630Ilefs) http://identifiers.org/clinvar/11591 ^@ NM_001363.4(DKC1):c.146C>T (p.Thr49Met) http://identifiers.org/clinvar/11641 ^@ NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) http://identifiers.org/clinvar/11692 ^@ NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del http://identifiers.org/clinvar/11743 ^@ NM_000489.4(ATRX):c.1226T>C (p.Leu409Ser) http://identifiers.org/clinvar/11794 ^@ NM_000052.6(ATP7A):c.2981C>T (p.Thr994Ile) http://identifiers.org/clinvar/11844 ^@ NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) http://identifiers.org/clinvar/11894 ^@ F11, IVS5DS, G-C, +5 http://identifiers.org/clinvar/11944 ^@ NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA http://identifiers.org/clinvar/11996 ^@ NM_002863.4(PYGL):c.1620+1G>A http://identifiers.org/clinvar/12046 ^@ NM_000136.2(FANCC):c.37C>T (p.Gln13Ter) http://identifiers.org/clinvar/12096 ^@ NM_000196.3(HSD11B2):c.623G>A (p.Arg208His) http://identifiers.org/clinvar/12146 ^@ NM_024649.4(BBS1):c.851delA (p.Tyr284Serfs) http://identifiers.org/clinvar/12200 ^@ NG_012741.1:g.(?_5001)_(37693_?)del http://identifiers.org/clinvar/12252 ^@ CDH1, 828-BP DEL/3-BP INS, EX16 http://identifiers.org/clinvar/12303 ^@ NM_001007792.1(NTRK1):c.2231G>C (p.Arg744Pro) http://identifiers.org/clinvar/12405 ^@ NM_000548.4(TSC2):c.2713C>G (p.Arg905Gly) http://identifiers.org/clinvar/133217 ^@ NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) http://identifiers.org/clinvar/36647 ^@ NM_000432.3(MYL2):c.*10C>T http://identifiers.org/clinvar/36699 ^@ NM_006261.4(PROP1):c.174G>A (p.Pro58=) http://identifiers.org/clinvar/37741 ^@ NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) http://identifiers.org/clinvar/37794 ^@ NM_000059.3(BRCA2):c.2589T>A (p.Asn863Lys) http://identifiers.org/clinvar/37846 ^@ NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) http://identifiers.org/clinvar/37898 ^@ NM_000059.3(BRCA2):c.4376A>G (p.Asn1459Ser) http://identifiers.org/clinvar/37952 ^@ NM_000059.3(BRCA2):c.5227A>T (p.Ser1743Cys) http://identifiers.org/clinvar/38209 ^@ NM_000059.3(BRCA2):c.9097delA (p.Thr3033Leufs) http://identifiers.org/clinvar/38259 ^@ NM_000059.3(BRCA2):c.9673T>C (p.Tyr3225His) http://identifiers.org/clinvar/38321 ^@ NM_000168.5(GLI3):c.2935delT (p.Cys979Alafs) http://identifiers.org/clinvar/38378 ^@ NM_005211.3(CSF1R):c.2345G>A (p.Arg782His) http://identifiers.org/clinvar/38433 ^@ NM_024312.4(GNPTAB):c.832C>T (p.Gln278Ter) http://identifiers.org/clinvar/38593 ^@ NM_000060.4(BTD):c.1284C>T (p.Tyr428Tyr=) http://identifiers.org/clinvar/38761 ^@ NM_000495.4(COL4A5):c.2014G>C (p.Gly672Arg) http://identifiers.org/clinvar/38935 ^@ NM_001363.4(DKC1):c.1151C>T (p.Pro384Leu) http://identifiers.org/clinvar/38986 ^@ NM_004614.4(TK2):c.360_361delGCinsAA (p.His121Asn) http://identifiers.org/clinvar/39037 ^@ NM_024312.4(GNPTAB):c.163dupT (p.Ser55Phefs) http://identifiers.org/clinvar/39087 ^@ NM_024312.4(GNPTAB):c.749dupA (p.Asn250Lysfs) http://identifiers.org/clinvar/39144 ^@ NM_198578.3(LRRK2):c.2134A>G (p.Met712Val) http://identifiers.org/clinvar/39194 ^@ NM_198578.3(LRRK2):c.4666C>A (p.Leu1556Ile) http://identifiers.org/clinvar/39244 ^@ NM_198578.3(LRRK2):c.867C= (p.Asn289=) http://identifiers.org/clinvar/39295 ^@ NR_001566.1(TERC):n.410C>G http://identifiers.org/clinvar/39458 ^@ NM_001111.4(ADAR):c.3019G>A (p.Gly1007Arg) http://identifiers.org/clinvar/39509 ^@ ANTXR2, 1-BP DEL, 1074T http://identifiers.org/clinvar/39610 ^@ NM_001101426.3(ISPD):c.535-?_933+?del http://identifiers.org/clinvar/51160 ^@ NM_000059.3(BRCA2):c.1631C>T (p.Thr544Ile) http://identifiers.org/clinvar/51211 ^@ NM_000059.3(BRCA2):c.1831delT (p.Ser611Glnfs) http://identifiers.org/clinvar/51263 ^@ NM_000059.3(BRCA2):c.226T>C (p.Ser76Pro) http://identifiers.org/clinvar/51314 ^@ NM_000059.3(BRCA2):c.2606C>T (p.Ser869Leu) http://identifiers.org/clinvar/51364 ^@ NM_000059.3(BRCA2):c.2872A>G (p.Ser958Gly) http://identifiers.org/clinvar/51414 ^@ NM_000059.3(BRCA2):c.317-12G>A http://identifiers.org/clinvar/51466 ^@ NM_000059.3(BRCA2):c.3449_3450insAG (p.Ile1151Valfs) http://identifiers.org/clinvar/51517 ^@ NM_000059.3(BRCA2):c.375T>A (p.Asp125Glu) http://identifiers.org/clinvar/51568 ^@ NM_000059.3(BRCA2):c.3938A>G (p.Tyr1313Cys) http://identifiers.org/clinvar/51619 ^@ NM_000059.3(BRCA2):c.426-12_426-8del5 http://identifiers.org/clinvar/51671 ^@ NM_000059.3(BRCA2):c.4554delA (p.Glu1518Aspfs) http://identifiers.org/clinvar/51723 ^@ NM_000059.3(BRCA2):c.483T>G (p.Cys161Trp) http://identifiers.org/clinvar/52734 ^@ NM_000059.3(BRCA2):c.9054_9055delTA (p.Ser3018Argfs) http://identifiers.org/clinvar/53190 ^@ NM_000492.3(CFTR):c.1116+1G>A http://identifiers.org/clinvar/53243 ^@ NM_000492.3(CFTR):c.1393-2A>G http://identifiers.org/clinvar/53293 ^@ NM_000492.3(CFTR):c.1586A>G (p.Asp529Gly) http://identifiers.org/clinvar/53344 ^@ NM_000492.3(CFTR):c.1694A>G (p.Asp565Gly) http://identifiers.org/clinvar/53394 ^@ NM_000492.3(CFTR):c.1811C>G (p.Thr604Ser) http://identifiers.org/clinvar/53446 ^@ NM_000492.3(CFTR):c.215C>A (p.Ala72Asp) http://identifiers.org/clinvar/53499 ^@ NM_000492.3(CFTR):c.2491-23A>G http://identifiers.org/clinvar/53549 ^@ NM_000492.3(CFTR):c.273+1G>A http://identifiers.org/clinvar/53599 ^@ NM_000492.3(CFTR):c.2929T>C (p.Ser977Pro) http://identifiers.org/clinvar/53651 ^@ NM_000492.3(CFTR):c.3106delA (p.Thr1036Profs) http://identifiers.org/clinvar/53702 ^@ NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) http://identifiers.org/clinvar/53752 ^@ NM_000492.3(CFTR):c.3469-2A>G http://identifiers.org/clinvar/53803 ^@ NM_000492.3(CFTR):c.3754A>C (p.Thr1252Pro) http://identifiers.org/clinvar/53857 ^@ NM_000492.3(CFTR):c.3935A>G (p.Asp1312Gly) http://identifiers.org/clinvar/53908 ^@ NM_000492.3(CFTR):c.4168C>T (p.Gln1390Ter) http://identifiers.org/clinvar/53958 ^@ NM_000492.3(CFTR):c.472A>C (p.Ser158Arg) http://identifiers.org/clinvar/54008 ^@ NM_000492.3(CFTR):c.578_579+5delAAGTATG http://identifiers.org/clinvar/54058 ^@ NM_000492.3(CFTR):c.794T>G (p.Met265Arg) http://identifiers.org/clinvar/54110 ^@ NM_007294.3(BRCA1):c.1059G>A (p.Trp353Ter) http://identifiers.org/clinvar/54160 ^@ NM_007294.3(BRCA1):c.1193C>G (p.Ser398Ter) http://identifiers.org/clinvar/54210 ^@ NM_007294.3(BRCA1):c.134+2T>G http://identifiers.org/clinvar/54260 ^@ NM_007294.3(BRCA1):c.1458T>G (p.Phe486Leu) http://identifiers.org/clinvar/54311 ^@ NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter) http://identifiers.org/clinvar/54361 ^@ NM_007294.3(BRCA1):c.1823_1826delAGAA (p.Lys608Ilefs) http://identifiers.org/clinvar/54412 ^@ NM_007294.3(BRCA1):c.1953dupG (p.Lys652Glufs) http://identifiers.org/clinvar/54462 ^@ NM_007294.3(BRCA1):c.2110_2111delAA (p.Asn704Cysfs) http://identifiers.org/clinvar/54512 ^@ NM_007294.3(BRCA1):c.2245G>T (p.Asp749Tyr) http://identifiers.org/clinvar/54562 ^@ NM_007294.3(BRCA1):c.2413T>C (p.Cys805Arg) http://identifiers.org/clinvar/55207 ^@ NM_007294.3(BRCA1):c.4471C>G (p.Pro1491Ala) http://identifiers.org/clinvar/55257 ^@ NM_007294.3(BRCA1):c.4678G>T (p.Gly1560Ter) http://identifiers.org/clinvar/55308 ^@ NM_007294.3(BRCA1):c.488delG (p.Arg163Lysfs) http://identifiers.org/clinvar/55358 ^@ NM_007294.3(BRCA1):c.5035delC (p.Leu1679Terfs) http://identifiers.org/clinvar/55408 ^@ NM_007294.3(BRCA1):c.5126delG (p.Gly1709Glufs) http://identifiers.org/clinvar/55458 ^@ NM_007294.3(BRCA1):c.5209A>T (p.Arg1737Ter) http://identifiers.org/clinvar/55511 ^@ NM_007294.3(BRCA1):c.5293G>T (p.Glu1765Ter) http://identifiers.org/clinvar/55561 ^@ NM_007294.3(BRCA1):c.5406+33A>T http://identifiers.org/clinvar/55611 ^@ NM_007294.3(BRCA1):c.5513T>A (p.Val1838Glu) http://identifiers.org/clinvar/55663 ^@ NM_007294.3(BRCA1):c.671-2A>C http://identifiers.org/clinvar/55714 ^@ NM_007294.3(BRCA1):c.809delA (p.His270Leufs) http://identifiers.org/clinvar/55765 ^@ NM_007294.3(BRCA1):c.961delT (p.Trp321Glyfs) http://identifiers.org/clinvar/55837 ^@ NM_213655.4(WNK1):c.6896G>A (p.Ser2299Asn) http://identifiers.org/clinvar/55915 ^@ NM_207037.1(TCF12):c.1963G>T (p.Glu655Ter) http://identifiers.org/clinvar/55973 ^@ NM_000111.2(SLC26A3):c.1408-1G>A http://identifiers.org/clinvar/56026 ^@ NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) http://identifiers.org/clinvar/56077 ^@ NM_000170.2(GLDC):c.2422delA (p.Ser808Valfs) http://identifiers.org/clinvar/56131 ^@ NM_000274.3(OAT):c.542C>T (p.Thr181Met) http://identifiers.org/clinvar/56182 ^@ NM_000310.3(PPT1):c.169dupA (p.Met57Asnfs) http://identifiers.org/clinvar/56232 ^@ NM_000481.3(AMT):c.452_466delAAGATTTGGCCCTCA (p.Lys151_Leu155del) http://identifiers.org/clinvar/56283 ^@ NM_001042432.1(CLN3):c.569delG (p.Gly190Glufs) http://identifiers.org/clinvar/56335 ^@ NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly) http://identifiers.org/clinvar/56386 ^@ NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) http://identifiers.org/clinvar/56437 ^@ NM_004646.3(NPHS1):c.1337T>A (p.Ile446Asn) http://identifiers.org/clinvar/56487 ^@ NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) http://identifiers.org/clinvar/56538 ^@ NM_006493.2(CLN5):c.565C>T (p.Gln189Ter) http://identifiers.org/clinvar/56591 ^@ NM_017739.3(POMGNT1):c.1876delG (p.Val626Serfs) http://identifiers.org/clinvar/56646 ^@ NM_017890.4(VPS13B):c.1225G>T (p.Glu409Ter) http://identifiers.org/clinvar/101194 ^@ NM_000090.3(COL3A1):c.690+2T>G (p.Gly213_Asp230del) http://identifiers.org/clinvar/101244 ^@ NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp) http://identifiers.org/clinvar/101294 ^@ NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val) http://identifiers.org/clinvar/101344 ^@ NM_000090.3(COL3A1):c.1862G>A (p.Gly621Glu) http://identifiers.org/clinvar/102972 ^@ NM_022162.2(NOD2):c.-144C>T http://identifiers.org/clinvar/103022 ^@ NM_001033053.2(NLRP1):c.3198T>G (p.Pro1066=) http://identifiers.org/clinvar/103072 ^@ NM_001199138.1(NLRC4):c.1122C>T (p.Asn374=) http://identifiers.org/clinvar/103122 ^@ NM_022162.2(NOD2):c.2462+218A>G http://identifiers.org/clinvar/103172 ^@ NM_032206.4(NLRC5):c.3113+100G>A http://identifiers.org/clinvar/103222 ^@ NM_134444.4(NLRP4):c.2178A>G (p.Lys726=) http://identifiers.org/clinvar/103272 ^@ NM_145007.3(NLRP11):c.1842-149C>T http://identifiers.org/clinvar/103322 ^@ NM_176811.2(NLRP8):c.2043-3T>C http://identifiers.org/clinvar/103372 ^@ NM_178844.3(NLRC3):c.2717C>T (p.Ala906Val) http://identifiers.org/clinvar/111246 ^@ NM_005534.3(IFNGR2):c.466A>C (p.Ile156Leu) http://identifiers.org/clinvar/120181 ^@ NM_145261.3(DNAJC19):c.300delA (p.Ala101Profs) http://identifiers.org/clinvar/120258 ^@ NM_000277.1(PAH):c.1066-2A>T http://identifiers.org/clinvar/120308 ^@ NM_001191061.1(SLC25A22):c.328G>C (p.Gly110Arg) http://identifiers.org/clinvar/125465 ^@ NM_007294.3(BRCA1):c.882delA (p.Asp295Thrfs) http://identifiers.org/clinvar/125539 ^@ NM_007294.3(BRCA1):c.2098_2099insA (p.Leu700Hisfs) http://identifiers.org/clinvar/125622 ^@ NM_007294.3(BRCA1):c.3288_3289ins46 (p.?) http://identifiers.org/clinvar/125691 ^@ NM_007294.3(BRCA1):c.4185+30G>A http://identifiers.org/clinvar/125752 ^@ NM_007294.3(BRCA1):c.5007_5008ins13 (p.?) http://identifiers.org/clinvar/125830 ^@ NM_007294.3(BRCA1):c.5333-4_5333-2del3 http://identifiers.org/clinvar/125892 ^@ NM_007294.3(BRCA1):c.548-9A>G http://identifiers.org/clinvar/125955 ^@ NM_000059.3(BRCA2):c.-39-16G>A http://identifiers.org/clinvar/126018 ^@ NM_000059.3:c.156_157insALU http://identifiers.org/clinvar/126092 ^@ U43746.1:n.6437delT http://identifiers.org/clinvar/126153 ^@ NM_000059.3(BRCA2):c.7627dupT (p.Tyr2543Leufs) http://identifiers.org/clinvar/126213 ^@ NM_000059.3(BRCA2):c.9455_9456dupAG (p.Gly3153Argfs) http://identifiers.org/clinvar/126271 ^@ NM_017777.3(MKS1):c.110A>G (p.Asn37Ser) http://identifiers.org/clinvar/126322 ^@ NM_020732.3(ARID1B):c.2799G>A (p.Pro933=) http://identifiers.org/clinvar/127459 ^@ NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) http://identifiers.org/clinvar/160790 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 http://identifiers.org/clinvar/160840 ^@ GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 http://identifiers.org/clinvar/160893 ^@ GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 http://identifiers.org/clinvar/160945 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3 http://identifiers.org/clinvar/160995 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3 http://identifiers.org/clinvar/161046 ^@ GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3 http://identifiers.org/clinvar/161096 ^@ NM_030777.3(SLC2A10):c.685C>T (p.Arg229Ter) http://identifiers.org/clinvar/161146 ^@ NM_152296.4(ATP1A3):c.2600G>A (p.Gly867Asp) http://identifiers.org/clinvar/161228 ^@ NM_001008844.2(DSP):c.5326G>C (p.Gly1776Arg) http://identifiers.org/clinvar/161328 ^@ NM_000257.3(MYH7):c.958G>A (p.Val320Met) http://identifiers.org/clinvar/161278 ^@ NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) http://identifiers.org/clinvar/161378 ^@ NM_000540.2(RYR1):c.14468C>T (p.Thr4823Met) http://identifiers.org/clinvar/161444 ^@ NM_021911.2(GABRB2):c.236T>C (p.Met79Thr) http://identifiers.org/clinvar/161497 ^@ NM_001025231.1(KPRP):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/161747 ^@ NM_021186.4(ZP4):c.214G>A (p.Asp72Asn) http://identifiers.org/clinvar/161547 ^@ NM_001167609.1(GLI1):c.407G>A (p.Cys136Tyr) http://identifiers.org/clinvar/161847 ^@ NM_182947.3(ARHGEF25):c.657-7C>A http://identifiers.org/clinvar/161797 ^@ NM_080746.2(RPL10L):c.94C>T (p.Arg32Cys) http://identifiers.org/clinvar/161597 ^@ NM_002472.2(MYH8):c.2339G>T (p.Arg780Ile) http://identifiers.org/clinvar/161697 ^@ NM_015868.2(KIR2DL3):c.71-4C>T http://identifiers.org/clinvar/161647 ^@ NM_006517.4(SLC16A2):c.1451G>T (p.Gly484Val) http://identifiers.org/clinvar/165556 ^@ NM_000364.3(TNNT2):c.90C>T (p.Asp30=) http://identifiers.org/clinvar/180055 ^@ NM_001035.2(RYR2):c.1077A>G (p.Ser359=) http://identifiers.org/clinvar/177643 ^@ NM_000364.3(TNNT2):c.163+5G>A http://identifiers.org/clinvar/179955 ^@ NM_133378.4(TTN):c.96100C>G (p.Gln32034Glu) http://identifiers.org/clinvar/166509 ^@ NM_007123.5(USH2A):c.3648C>T (p.Tyr1216=) http://identifiers.org/clinvar/178197 ^@ NM_001256850.1(TTN):c.63159C>T (p.Cys21053=) http://identifiers.org/clinvar/165953 ^@ NM_133378.4(TTN):c.49588G>A (p.Val16530Ile) http://identifiers.org/clinvar/178647 ^@ NM_206933.2(USH2A):c.11048-15C>T http://identifiers.org/clinvar/177744 ^@ NM_206933.2(USH2A):c.10232A= (p.Glu3411=) http://identifiers.org/clinvar/165856 ^@ NM_133378.4(TTN):c.63092A>T (p.Glu21031Val) http://identifiers.org/clinvar/165682 ^@ NM_133378.4(TTN):c.90761A>G (p.Asp30254Gly) http://identifiers.org/clinvar/166003 ^@ NM_133378.4(TTN):c.43861A>G (p.Lys14621Glu) http://identifiers.org/clinvar/166259 ^@ NM_133379.4(TTN):c.14489A>G (p.Gln4830Arg) http://identifiers.org/clinvar/166146 ^@ NM_001267550.2(TTN):c.26201-7dupT http://identifiers.org/clinvar/178247 ^@ NM_133378.4(TTN):c.15331G>T (p.Asp5111Tyr) http://identifiers.org/clinvar/179805 ^@ NM_133378.4(TTN):c.14560A>G (p.Thr4854Ala) http://identifiers.org/clinvar/166309 ^@ NM_133378.4(TTN):c.7133A>G (p.Lys2378Arg) http://identifiers.org/clinvar/179605 ^@ NM_194248.2(OTOF):c.55C>T (p.Arg19Trp) http://identifiers.org/clinvar/165281 ^@ NM_005633.3(SOS1):c.2200A>C (p.Thr734Pro) http://identifiers.org/clinvar/165203 ^@ NM_000542.3(SFTPB):c.777G>A (p.Gln259=) http://identifiers.org/clinvar/166595 ^@ NM_006005.3(WFS1):c.1683C>T (p.Ile561=) http://identifiers.org/clinvar/178597 ^@ NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) http://identifiers.org/clinvar/165013 ^@ NM_002880.3(RAF1):c.-59C>A http://identifiers.org/clinvar/165141 ^@ NM_198056.2(SCN5A):c.3662C>T (p.Ala1221Val) http://identifiers.org/clinvar/164804 ^@ NM_016616.4(NME8):c.1140-10T>G http://identifiers.org/clinvar/200932 ^@ NM_170707.3(LMNA):c.344A>T (p.Glu115Val) http://identifiers.org/clinvar/201406 ^@ NM_001035.2(RYR2):c.848+2dupT http://identifiers.org/clinvar/201238 ^@ NM_001035.2(RYR2):c.3425C>T (p.Ala1142Val) http://identifiers.org/clinvar/201291 ^@ NM_001035.2(RYR2):c.9125C>A (p.Ala3042Glu) http://identifiers.org/clinvar/201182 ^@ NM_001035.2(RYR2):c.11880+13delA http://identifiers.org/clinvar/201349 ^@ NM_001035.2(RYR2):c.13520T>C (p.Leu4507Ser) http://identifiers.org/clinvar/201572 ^@ NM_198056.2(SCN5A):c.4850_4852delTCT (p.Phe1617del) http://identifiers.org/clinvar/201515 ^@ NM_198056.2(SCN5A):c.4409T>C (p.Ile1470Thr) http://identifiers.org/clinvar/201460 ^@ NM_198056.2(SCN5A):c.1820G>A (p.Gly607Asp) http://identifiers.org/clinvar/199909 ^@ NM_004415.3(DSP):c.8330C>A (p.Pro2777His) http://identifiers.org/clinvar/200709 ^@ NM_000238.3(KCNH2):c.3136delC (p.Gln1046Serfs) http://identifiers.org/clinvar/200456 ^@ NM_000238.3(KCNH2):c.2464G>C (p.Val822Leu) http://identifiers.org/clinvar/200604 ^@ NM_000238.3(KCNH2):c.560_568dupGCGCGGGCG (p.Gly189_Ala190insGlyAlaGly) http://identifiers.org/clinvar/200293 ^@ NM_000238.3(KCNH2):c.563C>T (p.Ala188Val) http://identifiers.org/clinvar/200871 ^@ NM_000218.2(KCNQ1):c.208C>A (p.Pro70Thr) http://identifiers.org/clinvar/200819 ^@ NM_000218.2(KCNQ1):c.679A>C (p.Ile227Leu) http://identifiers.org/clinvar/201001 ^@ NM_130799.2(MEN1):c.1350+1_1350+11delGTGAGGGACAG http://identifiers.org/clinvar/200136 ^@ NM_000138.4(FBN1):c.8551A>G (p.Lys2851Glu) http://identifiers.org/clinvar/200077 ^@ NM_000138.4(FBN1):c.6630T>A (p.Cys2210Ter) http://identifiers.org/clinvar/200190 ^@ NM_000138.4(FBN1):c.6025G>A (p.Glu2009Lys) http://identifiers.org/clinvar/200022 ^@ NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) http://identifiers.org/clinvar/199967 ^@ NM_000138.4(FBN1):c.1421G>A (p.Cys474Tyr) http://identifiers.org/clinvar/201115 ^@ NM_002474.2(MYH11):c.4756C>G (p.Gln1586Glu) http://identifiers.org/clinvar/201062 ^@ NM_002474.2(MYH11):c.3340C>T (p.Arg1114Trp) http://identifiers.org/clinvar/201632 ^@ NM_001103.3(ACTN2):c.703G>A (p.Val235Met) http://identifiers.org/clinvar/202135 ^@ NM_024334.2(TMEM43):c.83_87delGGCTGinsAGGA (p.Arg28Glnfs) http://identifiers.org/clinvar/234244 ^@ NM_005732.3(RAD50):c.2566C>A (p.Gln856Lys) http://identifiers.org/clinvar/232201 ^@ NM_005732.3(RAD50):c.2705A>C (p.Tyr902Ser) http://identifiers.org/clinvar/232551 ^@ NM_002485.4(NBN):c.1198G>A (p.Ala400Thr) http://identifiers.org/clinvar/232702 ^@ NM_000077.4(CDKN2A):c.52A>C (p.Thr18Pro) http://identifiers.org/clinvar/234144 ^@ NM_000314.6(PTEN):c.1212A>T (p.Ter404Cys) http://identifiers.org/clinvar/232101 ^@ NM_000051.3(ATM):c.6103A>G (p.Thr2035Ala) http://identifiers.org/clinvar/232451 ^@ NM_000051.3(ATM):c.6257A>G (p.Tyr2086Cys) http://identifiers.org/clinvar/232752 ^@ NM_000051.3(ATM):c.9014T>C (p.Val3005Ala) http://identifiers.org/clinvar/229702 ^@ NM_005591.3(MRE11):c.636C>T (p.Asn212=) http://identifiers.org/clinvar/233793 ^@ NM_005591.3(MRE11):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/232051 ^@ NM_000075.3(CDK4):c.841C>G (p.His281Asp) http://identifiers.org/clinvar/232652 ^@ NM_000059.3(BRCA2):c.4192G>A (p.Ala1398Thr) http://identifiers.org/clinvar/232802 ^@ NM_000059.3(BRCA2):c.7768T>C (p.Ser2590Pro) http://identifiers.org/clinvar/232401 ^@ NM_024675.3(PALB2):c.35A>C (p.Glu12Ala) http://identifiers.org/clinvar/232852 ^@ NM_001042492.2(NF1):c.694A>T (p.Thr232Ser) http://identifiers.org/clinvar/233994 ^@ NM_001042492.2(NF1):c.1186-1G>T http://identifiers.org/clinvar/234194 ^@ NM_001042492.2(NF1):c.1358G>T (p.Gly453Val) http://identifiers.org/clinvar/232351 ^@ NM_002878.3(RAD51D):c.885G>A (p.Leu295=) http://identifiers.org/clinvar/232602 ^@ NM_007294.3(BRCA1):c.3931_3934dupAACA (p.Thr1312Lysfs) http://identifiers.org/clinvar/232301 ^@ NM_058216.2(RAD51C):c.86C>T (p.Ser29Phe) http://identifiers.org/clinvar/233691 ^@ NM_032043.2(BRIP1):c.903G>A (p.Leu301=) http://identifiers.org/clinvar/233743 ^@ NM_007194.3(CHEK2):c.1259G>A (p.Cys420Tyr) http://identifiers.org/clinvar/234932 ^@ NM_001302946.1(TRNT1):c.128_130delAAG (p.Glu43del) http://identifiers.org/clinvar/235069 ^@ NM_133378.4(TTN):c.10670dupC (p.Lys3558Terfs) http://identifiers.org/clinvar/235019 ^@ NM_000256.3(MYBPC3):c.1775T>C (p.Val592Ala) http://identifiers.org/clinvar/235204 ^@ NM_001127897.3(RPGRIP1L):c.250C>T (p.Arg84Trp) http://identifiers.org/clinvar/235258 ^@ NM_000212.2(ITGB3):c.40G>A (p.Val14Met) http://identifiers.org/clinvar/235526 ^@ NM_001160372.3(TRAPPC9):c.71G>A (p.Gly24Asp) http://identifiers.org/clinvar/235577 ^@ NM_015384.4(NIPBL):c.5051C>T (p.Thr1684Ile) http://identifiers.org/clinvar/235627 ^@ NC_012920.1:m.10084T>C http://identifiers.org/clinvar/235681 ^@ NM_001161766.1(AHCY):c.209C>T (p.Pro70Leu) http://identifiers.org/clinvar/235743 ^@ NC_012920.1:m.14393A>G http://identifiers.org/clinvar/242394 ^@ NM_138691.2(TMC1):c.1810C>T (p.Arg604Ter) http://identifiers.org/clinvar/240080 ^@ NM_004958.3(MTOR):c.5246+8_5246+9delCCinsGT http://identifiers.org/clinvar/239430 ^@ NM_003000.2(SDHB):c.31C>T (p.Arg11Cys) http://identifiers.org/clinvar/241620 ^@ NM_031844.2(HNRNPU):c.2299_2302delAACA (p.Asn767Glufs) http://identifiers.org/clinvar/241420 ^@ NM_022114.3(PRDM16):c.142G>A (p.Val48Met) http://identifiers.org/clinvar/237737 ^@ NM_000384.2(APOB):c.12021C>A (p.Gly4007=) http://identifiers.org/clinvar/237837 ^@ NM_000465.3(BARD1):c.408A>G (p.Ala136=) http://identifiers.org/clinvar/241970 ^@ NM_152383.4(DIS3L2):c.2067C>T (p.Tyr689=) http://identifiers.org/clinvar/239830 ^@ NM_004304.4(ALK):c.3939-8A>G http://identifiers.org/clinvar/237386 ^@ NM_000251.2(MSH2):c.2282G>C (p.Gly761Ala) http://identifiers.org/clinvar/237135 ^@ NM_000179.2(MSH6):c.146C>T (p.Ala49Val) http://identifiers.org/clinvar/237185 ^@ NM_000179.2(MSH6):c.3220A>T (p.Met1074Leu) http://identifiers.org/clinvar/241720 ^@ NM_032638.4(GATA2):c.142T>A (p.Phe48Ile) http://identifiers.org/clinvar/241470 ^@ NM_024334.2(TMEM43):c.980C>G (p.Thr327Arg) http://identifiers.org/clinvar/242270 ^@ NR_001566.1(TERC):n.360C>G http://identifiers.org/clinvar/242170 ^@ NM_181426.1(CCDC39):c.1781C>T (p.Thr594Ile) http://identifiers.org/clinvar/239530 ^@ NM_003242.5(TGFBR2):c.1548G>A (p.Thr516=) http://identifiers.org/clinvar/237336 ^@ NM_000249.3(MLH1):c.306+6C>T http://identifiers.org/clinvar/240681 ^@ NM_006514.3(SCN10A):c.5523A>G (p.Pro1841=) http://identifiers.org/clinvar/240331 ^@ NM_006206.4(PDGFRA):c.2469C>T (p.Asn823=) http://identifiers.org/clinvar/237286 ^@ NM_000222.2(KIT):c.899A>G (p.Asn300Ser) http://identifiers.org/clinvar/237236 ^@ NM_000222.2(KIT):c.1155C>T (p.Thr385=) http://identifiers.org/clinvar/242220 ^@ NM_198253.2(TERT):c.1936C>T (p.Arg646Cys) http://identifiers.org/clinvar/240231 ^@ NM_005732.3(RAD50):c.3120A>C (p.Gln1040His) http://identifiers.org/clinvar/238976 ^@ NM_001369.2(DNAH5):c.4938G>A (p.Lys1646=) http://identifiers.org/clinvar/239930 ^@ NM_004387.3(NKX2-5):c.514G>A (p.Ala172Thr) http://identifiers.org/clinvar/239680 ^@ NM_004168.3(SDHA):c.694C>T (p.Arg232Cys) http://identifiers.org/clinvar/240281 ^@ NM_006073.3(TRDN):c.1056G>T (p.Pro352=) http://identifiers.org/clinvar/239630 ^@ NM_004100.4(EYA4):c.641C>A (p.Pro214Gln) http://identifiers.org/clinvar/237887 ^@ NM_000535.6(PMS2):c.1500dupC (p.Val501Argfs) http://identifiers.org/clinvar/259780 ^@ NM_005506.3(SCARB2):c.1186G>A (p.Val396Ile) http://identifiers.org/clinvar/261819 ^@ NM_025074.6(FRAS1):c.9116-6C>T http://identifiers.org/clinvar/262069 ^@ NM_032446.2(MEGF10):c.2145G>A (p.Thr715=) http://identifiers.org/clinvar/257990 ^@ NM_001369.2(DNAH5):c.12279+20T>G http://identifiers.org/clinvar/258040 ^@ NM_001369.2(DNAH5):c.5115-14delT http://identifiers.org/clinvar/261669 ^@ NM_023073.3(C5orf42):c.336C>T (p.Val112=) http://identifiers.org/clinvar/260180 ^@ NM_012120.2(CD2AP):c.1120A>G (p.Thr374Ala) http://identifiers.org/clinvar/258140 ^@ NM_001458.4(FLNC):c.366C>T (p.Ile122=) http://identifiers.org/clinvar/257890 ^@ NM_001277115.1(DNAH11):c.4202A>G (p.Gln1401Arg) http://identifiers.org/clinvar/257940 ^@ NM_001277115.1(DNAH11):c.9366T>C (p.Ser3122=) http://identifiers.org/clinvar/255451 ^@ NM_000168.5(GLI3):c.900C>T (p.Ser300=) http://identifiers.org/clinvar/255401 ^@ NM_000162.3(GCK):c.645C>T (p.Tyr215=) http://identifiers.org/clinvar/261969 ^@ NM_031443.3(CCM2):c.30+17G>T http://identifiers.org/clinvar/259680 ^@ NM_005228.4(EGFR):c.474C>T (p.Asn158=) http://identifiers.org/clinvar/260330 ^@ NM_014112.4(TRPS1):c.2700+10T>C http://identifiers.org/clinvar/260280 ^@ NM_012472.5(LRRC6):c.915-8A>G http://identifiers.org/clinvar/255101 ^@ NM_000093.4(COL5A1):c.925-43G>A http://identifiers.org/clinvar/255051 ^@ NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) http://identifiers.org/clinvar/259479 ^@ NM_004629.1(FANCG):c.85-21A>C http://identifiers.org/clinvar/260380 ^@ NM_014290.2(TDRD7):c.207+19G>A http://identifiers.org/clinvar/262119 ^@ NM_032844.4(MASTL):c.2136G>A (p.Gln712=) http://identifiers.org/clinvar/257340 ^@ NM_007078.2(LDB3):c.1296_1343del48 (p.Ala434_Pro449del) http://identifiers.org/clinvar/260730 ^@ NM_016341.3(PLCE1):c.6342+13G>A http://identifiers.org/clinvar/255501 ^@ NM_000195.4(HPS1):c.1527C>G (p.Leu509=) http://identifiers.org/clinvar/254751 ^@ NM_000051.3(ATM):c.3994-121delC http://identifiers.org/clinvar/260030 ^@ NM_006757.3(TNNT3):c.723-15G>C http://identifiers.org/clinvar/259629 ^@ NM_005055.4(RAPSN):c.531+23C>T http://identifiers.org/clinvar/259830 ^@ NM_005609.3(PYGM):c.1403+49C>A http://identifiers.org/clinvar/258190 ^@ NM_001814.5(CTSC):c.319-15C>T http://identifiers.org/clinvar/258090 ^@ NM_001414.3(EIF2B1):c.369+50C>T http://identifiers.org/clinvar/257140 ^@ NM_001025356.2(ANO6):c.1274G>A (p.Arg425Gln) http://identifiers.org/clinvar/255601 ^@ NM_000231.2(SGCG):c.386-30A>G http://identifiers.org/clinvar/260130 ^@ NM_007129.3(ZIC2):c.1554G>A (p.Gly518=) http://identifiers.org/clinvar/261619 ^@ NM_022489.3(INF2):c.3286C>T (p.Pro1096Ser) http://identifiers.org/clinvar/257190 ^@ NM_001034852.2(SMOC1):c.858-19C>A http://identifiers.org/clinvar/255951 ^@ NM_000369.2(TSHR):c.1377G>A (p.Ala459=) http://identifiers.org/clinvar/257640 ^@ NM_001211.5(BUB1B):c.9G>T (p.Ala3=) http://identifiers.org/clinvar/255151 ^@ NM_000119.2(EPB42):c.276T>G (p.Thr92=) http://identifiers.org/clinvar/255301 ^@ NM_000138.4(FBN1):c.5671+28dupT http://identifiers.org/clinvar/333175 ^@ NM_014585.5(SLC40A1):c.-23A>G http://identifiers.org/clinvar/332975 ^@ NM_133378.4(TTN):c.-118G>A http://identifiers.org/clinvar/333325 ^@ NM_001006657.1(WDR35):c.*2887T>C http://identifiers.org/clinvar/333025 ^@ NM_002500.4(NEUROD1):c.*677dupA http://identifiers.org/clinvar/333125 ^@ NM_000393.4(COL5A2):c.*391A>G http://identifiers.org/clinvar/333575 ^@ NM_020919.3(ALS2):c.*942A>G http://identifiers.org/clinvar/336433 ^@ NM_000251.2(MSH2):c.*52A>T http://identifiers.org/clinvar/333275 ^@ NM_007315.3(STAT1):c.1263+7G>A http://identifiers.org/clinvar/336633 ^@ NM_001039348.2(EFEMP1):c.-16T>A http://identifiers.org/clinvar/333375 ^@ NM_001006657.1(WDR35):c.2989A>G (p.Ser997Gly) http://identifiers.org/clinvar/333825 ^@ NM_014929.3(FASTKD2):c.*1215G>A http://identifiers.org/clinvar/336733 ^@ NM_032180.2(FAM161A):c.1896T>C (p.Ile632=) http://identifiers.org/clinvar/333475 ^@ NM_032977.3(CASP10):c.*2425C>G http://identifiers.org/clinvar/333525 ^@ NM_001228.4(CASP8):c.*845T>A http://identifiers.org/clinvar/333625 ^@ NM_001204.6(BMPR2):c.-837G>T http://identifiers.org/clinvar/333725 ^@ NM_001204.6(BMPR2):c.*7135A>G http://identifiers.org/clinvar/337033 ^@ NM_015120.4(ALMS1):c.11608A>T (p.Ser3870Cys) http://identifiers.org/clinvar/337083 ^@ NM_004082.4(DCTN1):c.2213A>G (p.Gln738Arg) http://identifiers.org/clinvar/337233 ^@ NM_000821.6(GGCX):c.*1019G>C http://identifiers.org/clinvar/336783 ^@ NM_002056.3(GFPT1):c.*6094C>T http://identifiers.org/clinvar/336883 ^@ NM_002056.3(GFPT1):c.-125C>T http://identifiers.org/clinvar/336983 ^@ NM_003494.3(DYSF):c.*199T>G http://identifiers.org/clinvar/337183 ^@ NM_000821.6(GGCX):c.*4215G>A http://identifiers.org/clinvar/337283 ^@ NM_000821.6(GGCX):c.-46C>T http://identifiers.org/clinvar/337333 ^@ NM_003896.3(ST3GAL5):c.*69A>G http://identifiers.org/clinvar/342713 ^@ NM_020754.3(ARHGAP31):c.*2173G>A http://identifiers.org/clinvar/343552 ^@ NM_004628.4(XPC):c.*611T>A http://identifiers.org/clinvar/342763 ^@ NM_000187.3(HGD):c.-383C>G http://identifiers.org/clinvar/343652 ^@ NM_000935.2(PLOD2):c.306T>A (p.Asp102Glu) http://identifiers.org/clinvar/343752 ^@ NM_000096.3(CP):c.2662-14T>C http://identifiers.org/clinvar/343802 ^@ NM_174878.2(CLRN1):c.*856G>A http://identifiers.org/clinvar/343902 ^@ NM_000060.4(BTD):c.-45C>T http://identifiers.org/clinvar/344152 ^@ NM_000340.1(SLC2A2):c.*356A>T http://identifiers.org/clinvar/354518 ^@ NM_002890.2(RASA1):c.1494G>A (p.Glu498=) http://identifiers.org/clinvar/357408 ^@ NM_138694.3(PKHD1):c.11131G>A (p.Gly3711Arg) http://identifiers.org/clinvar/354618 ^@ NM_000439.4(PCSK1):c.*1443C>T http://identifiers.org/clinvar/357508 ^@ NM_018100.3(EFHC1):c.*1043_*1044delAT http://identifiers.org/clinvar/354668 ^@ NM_005068.2(SIM1):c.*450T>C http://identifiers.org/clinvar/354768 ^@ NM_001242957.2(MAK):c.*1688C>A http://identifiers.org/clinvar/355369 ^@ NM_006208.2(ENPP1):c.*699T>A http://identifiers.org/clinvar/355469 ^@ NM_172105.3(EYA4):c.*2360G>A http://identifiers.org/clinvar/351531 ^@ NM_006846.3(SPINK5):c.2241-6C>T http://identifiers.org/clinvar/351981 ^@ NM_000440.2(PDE6A):c.2424G>A (p.Glu808=) http://identifiers.org/clinvar/352031 ^@ NM_000112.3(SLC26A2):c.2129A>G (p.Tyr710Cys) http://identifiers.org/clinvar/352129 ^@ NM_005211.3(CSF1R):c.2760G>C (p.Glu920Asp) http://identifiers.org/clinvar/352079 ^@ NM_000112.3(SLC26A2):c.*3670G>A http://identifiers.org/clinvar/352279 ^@ NM_000405.4(GM2A):c.*1241T>C http://identifiers.org/clinvar/356408 ^@ NM_080680.2(COL11A2):c.1178C>T (p.Pro393Leu) http://identifiers.org/clinvar/359807 ^@ NM_001031710.2(KLHL7):c.*325G>A http://identifiers.org/clinvar/352179 ^@ NM_005211.3(CSF1R):c.84T>C (p.Pro28=) http://identifiers.org/clinvar/359957 ^@ NM_005522.4(HOXA1):c.653-12A>G http://identifiers.org/clinvar/356658 ^@ NM_005943.5(MOCS1):c.716T>A (p.Leu239His) http://identifiers.org/clinvar/356758 ^@ NM_000322.4(PRPH2):c.*917G>A http://identifiers.org/clinvar/352629 ^@ NM_000816.3(GABRG2):c.-250C>T http://identifiers.org/clinvar/352729 ^@ NM_001017995.2(SH3PXD2B):c.*4804T>C http://identifiers.org/clinvar/352779 ^@ NM_001017995.2(SH3PXD2B):c.*1125G>A http://identifiers.org/clinvar/360357 ^@ NM_014855.2(AP5Z1):c.*561C>T http://identifiers.org/clinvar/357058 ^@ NM_020745.3(AARS2):c.2679C>T (p.Leu893=) http://identifiers.org/clinvar/360457 ^@ NM_005228.4(EGFR):c.1281C>T (p.Arg427=) http://identifiers.org/clinvar/352929 ^@ NM_022455.4(NSD1):c.*3920C>T http://identifiers.org/clinvar/357108 ^@ NM_001024630.3(RUNX2):c.*967T>C http://identifiers.org/clinvar/360607 ^@ NM_153033.4(KCTD7):c.*1624T>C http://identifiers.org/clinvar/352829 ^@ NM_001017995.2(SH3PXD2B):c.66C>T (p.Asn22=) http://identifiers.org/clinvar/357158 ^@ NM_012120.2(CD2AP):c.-191G>A http://identifiers.org/clinvar/352879 ^@ NM_022455.4(NSD1):c.2725A>G (p.Thr909Ala) http://identifiers.org/clinvar/360657 ^@ NM_000501.3(ELN):c.1821G>C (p.Gly607=) http://identifiers.org/clinvar/357308 ^@ NM_003221.3(TFAP2B):c.*1223A>G http://identifiers.org/clinvar/357458 ^@ NM_138694.3(PKHD1):c.192C>T (p.Asn64=) http://identifiers.org/clinvar/353818 ^@ NM_002203.3(ITGA2):c.*2151A>G http://identifiers.org/clinvar/306442 ^@ NM_000372.4(TYR):c.-37G>A http://identifiers.org/clinvar/306492 ^@ NM_005591.3(MRE11):c.848A>G (p.His283Arg) http://identifiers.org/clinvar/364295 ^@ NM_000035.3(ALDOB):c.*714A>G http://identifiers.org/clinvar/306892 ^@ NM_000618.4(IGF1):c.*1770C>T http://identifiers.org/clinvar/364495 ^@ NM_001079802.1(FKTN):c.*954T>A http://identifiers.org/clinvar/307392 ^@ NM_005996.3(TBX3):c.-392A>G http://identifiers.org/clinvar/307442 ^@ NM_000017.3(ACADS):c.1104C>T (p.Gly368=) http://identifiers.org/clinvar/300798 ^@ NM_014000.2(VCL):c.3186G>A (p.Gln1062=) http://identifiers.org/clinvar/364895 ^@ NM_002316.3(LMX1B):c.*127C>T http://identifiers.org/clinvar/364745 ^@ NM_018249.5(CDK5RAP2):c.5362C>A (p.Leu1788Met) http://identifiers.org/clinvar/364795 ^@ NM_000177.4(GSN):c.81G>A (p.Ala27=) http://identifiers.org/clinvar/301048 ^@ NM_007055.3(POLR3A):c.3242+8C>G http://identifiers.org/clinvar/365095 ^@ NM_000118.3(ENG):c.321G>T (p.Leu107=) http://identifiers.org/clinvar/365145 ^@ NM_001003722.1(GLE1):c.*907G>C http://identifiers.org/clinvar/365545 ^@ NM_139025.4(ADAMTS13):c.1359C>T (p.Thr453=) http://identifiers.org/clinvar/365295 ^@ NM_007171.3(POMT1):c.*453T>C http://identifiers.org/clinvar/308981 ^@ NM_003482.3(KMT2D):c.*1505T>G http://identifiers.org/clinvar/309031 ^@ NM_003482.3(KMT2D):c.11178A>G (p.Gln3726=) http://identifiers.org/clinvar/365795 ^@ NM_000093.4(COL5A1):c.*2501T>C http://identifiers.org/clinvar/301798 ^@ NM_138413.3(HOGA1):c.910G>A (p.Ala304Thr) http://identifiers.org/clinvar/365845 ^@ NM_052813.4(CARD9):c.808-9C>A http://identifiers.org/clinvar/309231 ^@ NM_000486.5(AQP2):c.-60C>T http://identifiers.org/clinvar/365645 ^@ NM_000787.3(DBH):c.747C>T (p.Tyr249=) http://identifiers.org/clinvar/365996 ^@ NM_024757.4(EHMT1):c.438G>A (p.Ser146=) http://identifiers.org/clinvar/365695 ^@ NM_000787.3(DBH):c.*846G>A http://identifiers.org/clinvar/366046 ^@ NM_024757.4(EHMT1):c.*1018T>G http://identifiers.org/clinvar/366146 ^@ NM_144966.5(FREM1):c.2358A>G (p.Lys786=) http://identifiers.org/clinvar/366885 ^@ NM_001042413.1(GLIS3):c.*3692A>T http://identifiers.org/clinvar/306692 ^@ NM_018979.3(WNK1):c.*1347delG http://identifiers.org/clinvar/366935 ^@ NM_001042413.1(GLIS3):c.*1562A>C http://identifiers.org/clinvar/312985 ^@ NM_000359.2(TGM1):c.641A>G (p.Asn214Ser) http://identifiers.org/clinvar/313035 ^@ NM_025152.2(NUBPL):c.*273C>T http://identifiers.org/clinvar/341063 ^@ NM_000268.3(NF2):c.-246C>G http://identifiers.org/clinvar/314874 ^@ NM_006329.3(FBLN5):c.989+9C>T http://identifiers.org/clinvar/313135 ^@ NM_001079668.2(NKX2-1):c.*186dupC http://identifiers.org/clinvar/313285 ^@ NM_018139.2(DNAAF2):c.616C>A (p.Pro206Thr) http://identifiers.org/clinvar/315124 ^@ NM_003384.2(VRK1):c.1069-9A>G http://identifiers.org/clinvar/341663 ^@ NM_022098.3(XPNPEP3):c.-44C>T http://identifiers.org/clinvar/315374 ^@ NM_144599.4(NIPA1):c.*2649A>G http://identifiers.org/clinvar/323059 ^@ NM_001254.3(CDC6):c.1512A>G (p.Ser504=) http://identifiers.org/clinvar/341863 ^@ NM_001429.3(EP300):c.*964_*967dupACAC http://identifiers.org/clinvar/315524 ^@ NM_002420.5(TRPM1):c.1507-10T>C http://identifiers.org/clinvar/342063 ^@ NM_024105.3(ALG12):c.-43C>T http://identifiers.org/clinvar/323359 ^@ NM_000151.3(G6PC):c.81G>C (p.Gln27His) http://identifiers.org/clinvar/323409 ^@ NM_007294.3(BRCA1):c.*1292T>C http://identifiers.org/clinvar/323509 ^@ NM_000342.3(SLC4A1):c.1431+13T>G http://identifiers.org/clinvar/315824 ^@ NM_002225.3(IVD):c.*1890G>C http://identifiers.org/clinvar/323809 ^@ NM_001193466.1(KANSL1):c.-439_-437delCTC http://identifiers.org/clinvar/367964 ^@ NM_001011658.3(TRAPPC2):c.*2108_*2109dupTG http://identifiers.org/clinvar/323859 ^@ NM_004287.4(GOSR2):c.*2342A>G http://identifiers.org/clinvar/368664 ^@ NM_001109878.1(TBX22):c.72C>T (p.Leu24=) http://identifiers.org/clinvar/314924 ^@ NM_004239.4(TRIP11):c.*9C>G http://identifiers.org/clinvar/317063 ^@ NM_033028.4(BBS4):c.1215C>G (p.Leu405=) http://identifiers.org/clinvar/315024 ^@ NM_000295.4(SERPINA1):c.967C>T (p.Leu323=) http://identifiers.org/clinvar/317414 ^@ NM_000057.3(BLM):c.*77T>A http://identifiers.org/clinvar/317464 ^@ NM_000875.4(IGF1R):c.*15A>G http://identifiers.org/clinvar/317514 ^@ NM_000875.4(IGF1R):c.*1759_*1764delATATAT http://identifiers.org/clinvar/317564 ^@ NM_000875.4(IGF1R):c.*3714C>T http://identifiers.org/clinvar/315574 ^@ NM_133647.1(SLC12A6):c.*2289_*2293delGAAAG http://identifiers.org/clinvar/325257 ^@ NM_199242.2(UNC13D):c.2044C>T (p.Arg682Cys) http://identifiers.org/clinvar/317764 ^@ NM_004862.3(LITAF):c.*816T>A http://identifiers.org/clinvar/315974 ^@ NM_173500.3(TTBK2):c.3669C>T (p.His1223=) http://identifiers.org/clinvar/316074 ^@ NM_025137.3(SPG11):c.7146C>T (p.Ser2382=) http://identifiers.org/clinvar/317964 ^@ NM_001287.5(CLCN7):c.286-9G>T http://identifiers.org/clinvar/318064 ^@ NM_001143979.1(NDE1):c.720C>T (p.Thr240=) http://identifiers.org/clinvar/372129 ^@ NM_001733.4(C1R):c.890G>A (p.Gly297Asp) http://identifiers.org/clinvar/372203 ^@ NM_013276.2(SHPK):c.211G>T (p.Glu71Ter) http://identifiers.org/clinvar/372262 ^@ NM_032793.4(MFSD2A):c.1016C>T (p.Ser339Leu) http://identifiers.org/clinvar/372365 ^@ NM_000143.3(FH):c.1108+1G>T http://identifiers.org/clinvar/372416 ^@ NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) http://identifiers.org/clinvar/372315 ^@ NM_000388.3(CASR):c.73C>T (p.Arg25Ter) http://identifiers.org/clinvar/372575 ^@ NM_000090.3(COL3A1):c.4254+3A>G http://identifiers.org/clinvar/373524 ^@ NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) http://identifiers.org/clinvar/373774 ^@ NM_033071.3(SYNE1):c.15684delC (p.Met5229Cysfs) http://identifiers.org/clinvar/373424 ^@ NM_019105.6(TNXB):c.2461C>T (p.Arg821Ter) http://identifiers.org/clinvar/373624 ^@ NM_004281.3(BAG3):c.855_859dupGCCAC (p.Leu287Argfs) http://identifiers.org/clinvar/372625 ^@ NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) http://identifiers.org/clinvar/373724 ^@ NM_130799.2(MEN1):c.913-1G>A http://identifiers.org/clinvar/373674 ^@ NM_000270.3(PNP):c.268G>A (p.Gly90Arg) http://identifiers.org/clinvar/373374 ^@ NM_033116.5(NEK9):c.908T>C (p.Leu303Pro) http://identifiers.org/clinvar/372729 ^@ NM_005682.6(ADGRG1):c.671delA (p.Asp224Alafs) http://identifiers.org/clinvar/373324 ^@ NM_000540.2(RYR1):c.10147G>A (p.Ala3383Thr) http://identifiers.org/clinvar/372677 ^@ NM_172107.3(KCNQ2):c.1679G>A (p.Arg560Gln) http://identifiers.org/clinvar/372471 ^@ NM_006702.4(PNPLA6):c.3404G>A (p.Arg1135Gln) http://identifiers.org/clinvar/372523 ^@ NM_000455.4(STK11):c.790_793delTTTG (p.Phe264Argfs) http://identifiers.org/clinvar/373474 ^@ NM_002473.5(MYH9):c.679G>A (p.Val227Met) http://identifiers.org/clinvar/373574 ^@ NM_000425.4(L1CAM):c.2911C>T (p.Arg971Trp) http://identifiers.org/clinvar/373824 ^@ NM_000059.3(BRCA2):c.2266C>T (p.Gln756Ter) http://identifiers.org/clinvar/373874 ^@ NG_005905.2:g.(?_92501)_(141497_143462)del http://identifiers.org/clinvar/374077 ^@ NM_000302.3(PLOD1):c.1562G>A (p.Trp521Ter) http://identifiers.org/clinvar/373977 ^@ NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) http://identifiers.org/clinvar/374177 ^@ NM_000883.3(IMPDH1):c.928A>C (p.Thr310Pro) http://identifiers.org/clinvar/374027 ^@ NM_019098.4(CNGB3):c.819_826delCAGACTCC (p.Arg274Valfs) http://identifiers.org/clinvar/373927 ^@ NM_001130823.2(DNMT1):c.2718C>G (p.Phe906Leu) http://identifiers.org/clinvar/374127 ^@ NM_153638.3(PANK2):c.1069C>T (p.Arg357Trp) http://identifiers.org/clinvar/374231 ^@ NM_001111125.2(IQSEC2):c.2854C>T (p.Gln952Ter) http://identifiers.org/clinvar/374301 ^@ NM_152594.2(SPRED1):c.973C>T (p.Arg325Ter) http://identifiers.org/clinvar/374351 ^@ NM_000054.4(AVPR2):c.335G>T (p.Cys112Phe) http://identifiers.org/clinvar/374419 ^@ NM_001009944.2(PKD1):c.7720C>T (p.Leu2574Phe) http://identifiers.org/clinvar/374519 ^@ NM_031372.3(HNRNPDL):c.99_113delGCCGCCGCGGCAGCT (p.Pro34_Leu38del) http://identifiers.org/clinvar/374569 ^@ NM_005211.3(CSF1R):c.2606T>G (p.Val869Gly) http://identifiers.org/clinvar/374619 ^@ NM_000540.2(RYR1):c.13022C>T (p.Thr4341Met) http://identifiers.org/clinvar/374669 ^@ NM_001201402.1(GALC):c.9G>T (p.Gly3=) http://identifiers.org/clinvar/374719 ^@ NM_001110792.1(MECP2):c.1282G>T (p.Glu428Ter) http://identifiers.org/clinvar/374769 ^@ NM_018328.4(MBD5):c.3806A>G (p.Tyr1269Cys) http://identifiers.org/clinvar/375506 ^@ NM_021007.2(SCN2A):c.4643T>C (p.Met1548Thr) http://identifiers.org/clinvar/379027 ^@ NM_000251.2(MSH2):c.669G>A (p.Leu223=) http://identifiers.org/clinvar/383775 ^@ NM_015120.4(ALMS1):c.8020G>C (p.Asp2674His) http://identifiers.org/clinvar/391653 ^@ NM_000179.2(MSH6):c.1339C>T (p.Leu447=) http://identifiers.org/clinvar/390503 ^@ NM_053025.3(MYLK):c.1132C>G (p.Arg378Gly) http://identifiers.org/clinvar/389064 ^@ NM_001184.3(ATR):c.4405A>G (p.Thr1469Ala) http://identifiers.org/clinvar/382071 ^@ NM_004130.3(GYG1):c.319-12C>T http://identifiers.org/clinvar/391203 ^@ NM_052859.3(RFT1):c.-42T>C http://identifiers.org/clinvar/385415 ^@ NM_000249.3(MLH1):c.27G>T (p.Arg9=) http://identifiers.org/clinvar/383574 ^@ NM_000249.3(MLH1):c.1989+18T>C http://identifiers.org/clinvar/378877 ^@ NM_198056.2(SCN5A):c.1575C>T (p.Ser525=) http://identifiers.org/clinvar/391403 ^@ NM_015120.4(ALMS1):c.9696G>A (p.Glu3232=) http://identifiers.org/clinvar/389414 ^@ NM_006005.3(WFS1):c.1770G>A (p.Thr590=) http://identifiers.org/clinvar/386365 ^@ NM_053025.3(MYLK):c.1516+16C>T http://identifiers.org/clinvar/391753 ^@ NM_021911.2(GABRB2):c.1377T>C (p.His459=) http://identifiers.org/clinvar/378726 ^@ NM_003242.5(TGFBR2):c.94+16202A>G http://identifiers.org/clinvar/381220 ^@ NM_006846.3(SPINK5):c.81+19G>A http://identifiers.org/clinvar/385765 ^@ NM_003900.4(SQSTM1):c.1230C>T (p.Gly410=) http://identifiers.org/clinvar/382422 ^@ NM_005051.2(QARS):c.1863+14G>T http://identifiers.org/clinvar/391303 ^@ NM_006073.3(TRDN):c.129G>A (p.Thr43=) http://identifiers.org/clinvar/379677 ^@ NM_032861.3(SERAC1):c.1134C>T (p.Gly378=) http://identifiers.org/clinvar/391553 ^@ NM_002290.4(LAMA4):c.-37G>A http://identifiers.org/clinvar/377478 ^@ NM_001148.4(ANK2):c.4372-7C>T http://identifiers.org/clinvar/390553 ^@ NM_032340.3(UQCC2):c.-16A>G http://identifiers.org/clinvar/379227 ^@ NM_194456.1(KRIT1):c.486-2A>G http://identifiers.org/clinvar/379727 ^@ NM_006096.3(NDRG1):c.*18C>T http://identifiers.org/clinvar/379928 ^@ NM_000445.4(PLEC):c.11519G>A (p.Arg3840His) http://identifiers.org/clinvar/379577 ^@ NM_001182.4(ALDH7A1):c.1470T>C (p.Ala490=) http://identifiers.org/clinvar/389364 ^@ NM_000048.3(ASL):c.309G>A (p.Thr103=) http://identifiers.org/clinvar/381720 ^@ NM_000443.3(ABCB4):c.2144C>T (p.Thr715Ile) http://identifiers.org/clinvar/384865 ^@ NM_002397.4(MEF2C):c.258+7G>C http://identifiers.org/clinvar/385015 ^@ NM_005654.5(NR2F1):c.*9C>T http://identifiers.org/clinvar/384815 ^@ NM_013352.3(DSE):c.910+20G>A http://identifiers.org/clinvar/384915 ^@ NM_006904.6(PRKDC):c.10759-11T>C http://identifiers.org/clinvar/391003 ^@ NM_004408.3(DNM1):c.1743G>A (p.Ser581=) http://identifiers.org/clinvar/384615 ^@ NM_000368.4(TSC1):c.3420G>A (p.Pro1140=) http://identifiers.org/clinvar/377728 ^@ NM_000093.4(COL5A1):c.3912C>T (p.Pro1304=) http://identifiers.org/clinvar/378977 ^@ NM_006393.2(NEBL):c.277A>G (p.Ile93Val) http://identifiers.org/clinvar/133017 ^@ NM_000540.2(RYR1):c.11708G>A (p.Arg3903Gln) http://identifiers.org/clinvar/133067 ^@ NM_000540.2(RYR1):c.14422T>A (p.Phe4808Ile) http://identifiers.org/clinvar/133117 ^@ NM_000540.2(RYR1):c.2537C>T (p.Ser846Leu) http://identifiers.org/clinvar/133167 ^@ NM_000540.2(RYR1):c.6635T>C (p.Val2212Ala) http://identifiers.org/clinvar/133293 ^@ NM_021008.3(DEAF1):c.670C>T (p.Arg224Trp) http://identifiers.org/clinvar/133359 ^@ NM_017617.4(NOTCH1):c.5167+189C>G http://identifiers.org/clinvar/133409 ^@ NM_003820.3(TNFRSF14):c.305-201G>A http://identifiers.org/clinvar/133459 ^@ NM_004304.4(ALK):c.487G>T (p.Val163Leu) http://identifiers.org/clinvar/133510 ^@ NM_000038.5(APC):c.4237A>G (p.Met1413Val) http://identifiers.org/clinvar/133560 ^@ NM_152641.3(ARID2):c.1808C>T (p.Ala603Val) http://identifiers.org/clinvar/133610 ^@ NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) http://identifiers.org/clinvar/133660 ^@ NM_000489.4(ATRX):c.2540T>C (p.Phe847Ser) http://identifiers.org/clinvar/133710 ^@ NM_000057.3(BLM):c.178T>A (p.Leu60Ile) http://identifiers.org/clinvar/133764 ^@ NM_001211.5(BUB1B):c.10G>A (p.Val4Met) http://identifiers.org/clinvar/133814 ^@ NM_005188.3(CBL):c.271A>G (p.Thr91Ala) http://identifiers.org/clinvar/133864 ^@ NM_015083.2(CDK12):c.3970C>T (p.Arg1324Cys) http://identifiers.org/clinvar/133914 ^@ NM_015125.4(CIC):c.3925A>G (p.Ser1309Gly) http://identifiers.org/clinvar/133964 ^@ NM_177438.2(DICER1):c.59C>T (p.Ala20Val) http://identifiers.org/clinvar/134014 ^@ NM_001077706.2(ECT2L):c.910A>G (p.Met304Val) http://identifiers.org/clinvar/134066 ^@ NM_001429.3(EP300):c.1654T>C (p.Ser552Pro) http://identifiers.org/clinvar/134116 ^@ NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) http://identifiers.org/clinvar/134166 ^@ NM_000123.3(ERCC5):c.3238_3239delCGinsCA (p.Arg1080Gln) http://identifiers.org/clinvar/135167 ^@ NM_004260.3(RECQL4):c.1115G>C (p.Arg372Thr) http://identifiers.org/clinvar/135894 ^@ NM_000264.3(PTCH1):c.3624C>A (p.Ala1208=) http://identifiers.org/clinvar/135944 ^@ NM_000535.6(PMS2):c.497T>C (p.Leu166Pro) http://identifiers.org/clinvar/135996 ^@ NM_001166110.1(PALLD):c.1236C>T (p.Asp412=) http://identifiers.org/clinvar/136046 ^@ NM_002485.4(NBN):c.664T>C (p.Phe222Leu) http://identifiers.org/clinvar/136097 ^@ NM_020975.4(RET):c.1264-4C>T http://identifiers.org/clinvar/136147 ^@ NM_032043.2(BRIP1):c.2097+7G>A http://identifiers.org/clinvar/136207 ^@ NM_130838.1(UBE3A):c.1373C>T (p.Pro458Leu) http://identifiers.org/clinvar/136258 ^@ NM_000016.5(ACADM):c.-34T>C http://identifiers.org/clinvar/136309 ^@ NM_000026.3(ADSL):c.357+7G>A http://identifiers.org/clinvar/136360 ^@ NM_000692.4(ALDH1B1):c.195T>C (p.Ile65=) http://identifiers.org/clinvar/187201 ^@ NM_007294.3(BRCA1):c.5177G>T (p.Arg1726Ile) http://identifiers.org/clinvar/186299 ^@ NM_007294.3(BRCA1):c.3513G>A (p.Lys1171=) http://identifiers.org/clinvar/187251 ^@ NM_007294.3(BRCA1):c.3157G>T (p.Glu1053Ter) http://identifiers.org/clinvar/187051 ^@ NM_007294.3(BRCA1):c.2230G>A (p.Ala744Thr) http://identifiers.org/clinvar/186399 ^@ NM_007294.3(BRCA1):c.420T>G (p.Ser140Arg) http://identifiers.org/clinvar/186701 ^@ NM_005359.5(SMAD4):c.484T>C (p.Tyr162His) http://identifiers.org/clinvar/187101 ^@ NM_007194.3(CHEK2):c.664A>G (p.Met222Val) http://identifiers.org/clinvar/186751 ^@ NM_007194.3(CHEK2):c.422A>C (p.Lys141Thr) http://identifiers.org/clinvar/188226 ^@ NM_000038.5(APC):c.2834_2835delGGinsTT (p.Arg945Ile) http://identifiers.org/clinvar/188388 ^@ NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) http://identifiers.org/clinvar/188332 ^@ NM_025137.3(SPG11):c.7069C>T (p.Leu2357Phe) http://identifiers.org/clinvar/188280 ^@ NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) http://identifiers.org/clinvar/188693 ^@ NM_001018005.1(TPM1):c.115-16C>G http://identifiers.org/clinvar/188743 ^@ NM_000642.2(AGL):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/189045 ^@ NM_000642.2(AGL):c.118C>T (p.Gln40Ter) http://identifiers.org/clinvar/188994 ^@ NM_000642.2(AGL):c.664+3A>G http://identifiers.org/clinvar/188944 ^@ NM_004543.4(NEB):c.3987+1_3987+2delGTinsTG http://identifiers.org/clinvar/189145 ^@ NM_000500.7(CYP21A2):c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) http://identifiers.org/clinvar/188793 ^@ NM_000441.1(SLC26A4):c.1079C>T (p.Ala360Val) http://identifiers.org/clinvar/189095 ^@ NM_000492.3(CFTR):c.850dupA (p.Met284Asnfs) http://identifiers.org/clinvar/188894 ^@ NM_000352.4(ABCC8):c.3124_3126delACCinsCAGCCAGGAACTG (p.Thr1042Glnfs) http://identifiers.org/clinvar/188843 ^@ NM_000487.5(ARSA):c.1489_1492dupCCCC (p.Arg498Profs) http://identifiers.org/clinvar/189263 ^@ NM_014795.3(ZEB2):c.1257delG (p.Gly421Glufs) http://identifiers.org/clinvar/189315 ^@ NM_003047.4(SLC9A1):c.913G>A (p.Gly305Arg) http://identifiers.org/clinvar/189469 ^@ NM_000314.6(PTEN):c.-1208C>T http://identifiers.org/clinvar/189407 ^@ NM_000314.6(PTEN):c.-846C>T http://identifiers.org/clinvar/189635 ^@ NM_001110792.1(MECP2):c.1064_1194del131 (p.Gly355Alafs) http://identifiers.org/clinvar/189585 ^@ NM_003159.2(CDKL5):c.283-3_290del11 http://identifiers.org/clinvar/189535 ^@ NM_003159.2(CDKL5):c.2928G>A (p.Pro976=) http://identifiers.org/clinvar/189685 ^@ NM_004992.3:c.(?_27)_(1021_?)del http://identifiers.org/clinvar/190019 ^@ NM_001165963.1(SCN1A):c.5662C>T (p.Gln1888Ter) http://identifiers.org/clinvar/189919 ^@ NM_001165963.1(SCN1A):c.5003delC (p.Pro1668Leufs) http://identifiers.org/clinvar/189869 ^@ NM_001165963.1(SCN1A):c.2792G>A (p.Arg931His) http://identifiers.org/clinvar/189969 ^@ NM_001165963.1(SCN1A):c.2213G>A (p.Trp738Ter) http://identifiers.org/clinvar/190154 ^@ NM_000124.3(ERCC6):c.1835G>A (p.Arg612Gln) http://identifiers.org/clinvar/190204 ^@ NM_001110556.1(FLNA):c.732dupC (p.Glu245Argfs) http://identifiers.org/clinvar/190260 ^@ NM_001620.2(AHNAK):c.7562C>G (p.Pro2521Arg) http://identifiers.org/clinvar/190338 ^@ NM_002055.4(GFAP):c.256A>G (p.Lys86Glu) http://identifiers.org/clinvar/242601 ^@ NC_000018.9:g.76854774_78077248del1222475 http://identifiers.org/clinvar/227950 ^@ NM_000441.1(SLC26A4):c.1608C>T (p.Tyr536=) http://identifiers.org/clinvar/226578 ^@ NM_001277115.1(DNAH11):c.10027-10T>C http://identifiers.org/clinvar/229050 ^@ NM_006393.2(NEBL):c.903+1G>T http://identifiers.org/clinvar/228500 ^@ NM_022124.5(CDH23):c.6866A>G (p.Asn2289Ser) http://identifiers.org/clinvar/229200 ^@ NM_002906.3(RDX):c.995T>C (p.Ile332Thr) http://identifiers.org/clinvar/229300 ^@ NM_005422.2(TECTA):c.3940T>C (p.Cys1314Arg) http://identifiers.org/clinvar/228000 ^@ NM_005422.2(TECTA):c.4813G>A (p.Val1605Ile) http://identifiers.org/clinvar/229600 ^@ NM_153676.3(USH1C):c.1476G>T (p.Arg492Ser) http://identifiers.org/clinvar/226878 ^@ NM_001277269.1(OTOG):c.3132C>T (p.Asn1044=) http://identifiers.org/clinvar/229100 ^@ NM_001277269.1(OTOG):c.7033G>A (p.Val2345Met) http://identifiers.org/clinvar/226628 ^@ NM_016938.4(EFEMP2):c.368-4G>A http://identifiers.org/clinvar/228750 ^@ NM_004517.3(ILK):c.778C>T (p.Pro260Ser) http://identifiers.org/clinvar/226978 ^@ NM_173591.3(OTOGL):c.902G>A (p.Gly301Glu) http://identifiers.org/clinvar/226928 ^@ NM_173591.3(OTOGL):c.1323A>G (p.Leu441=) http://identifiers.org/clinvar/228700 ^@ NM_004004.5(GJB2):c.-22-6T>C http://identifiers.org/clinvar/228900 ^@ NM_000257.3(MYH7):c.1640C>A (p.Thr547Asn) http://identifiers.org/clinvar/226528 ^@ NM_001135058.1(COCH):c.1477+9C>A http://identifiers.org/clinvar/228400 ^@ NM_153700.2(STRC):c.(?_4443)_(4845_?)-68del http://identifiers.org/clinvar/226778 ^@ NM_016239.3(MYO15A):c.1899A>G (p.Pro633=) http://identifiers.org/clinvar/228950 ^@ NM_016239.3(MYO15A):c.3866C>T (p.Pro1289Leu) http://identifiers.org/clinvar/226828 ^@ NM_003803.3(MYOM1):c.5040T>C (p.Gly1680=) http://identifiers.org/clinvar/227079 ^@ NM_006941.3(SOX10):c.249C>T (p.Tyr83=) http://identifiers.org/clinvar/228600 ^@ NM_004006.2(DMD):c.10223C>T (p.Thr3408Ile) http://identifiers.org/clinvar/228050 ^@ NM_144991.2(TSPEAR):c.1856+13C>T http://identifiers.org/clinvar/228450 ^@ NM_001692.3(ATP6V1B1):c.651T>G (p.His217Gln) http://identifiers.org/clinvar/229000 ^@ NM_000260.3(MYO7A):c.1945C>T (p.Arg649Trp) http://identifiers.org/clinvar/229150 ^@ NM_000445.4(PLEC):c.5906C>T (p.Ala1969Val) http://identifiers.org/clinvar/234778 ^@ NM_018136.4(ASPM):c.2770G>T (p.Glu924Ter) http://identifiers.org/clinvar/234304 ^@ NM_004895.4(NLRP3):c.2617G>A (p.Ala873Thr) http://identifiers.org/clinvar/234678 ^@ NM_000179.2(MSH6):c.3904_3921dup18 (p.Asn1307_Leu1308insAlaAlaArgLeuAlaAsn) http://identifiers.org/clinvar/234476 ^@ NM_000136.2(FANCC):c.1327A>G (p.Met443Val) http://identifiers.org/clinvar/234527 ^@ NM_000834.3(GRIN2B):c.2201C>T (p.Ala734Val) http://identifiers.org/clinvar/234426 ^@ NM_000059.3(BRCA2):c.4336A>G (p.Ile1446Val) http://identifiers.org/clinvar/234879 ^@ NM_000059.3(BRCA2):c.7370T>G (p.Phe2457Cys) http://identifiers.org/clinvar/234828 ^@ NM_000059.3(BRCA2):c.9381G>A (p.Trp3127Ter) http://identifiers.org/clinvar/234356 ^@ NM_000243.2(MEFV):c.487G>C (p.Glu163Gln) http://identifiers.org/clinvar/234628 ^@ NM_000455.4(STK11):c.176C>G (p.Ser59Cys) http://identifiers.org/clinvar/234578 ^@ NM_000214.2(JAG1):c.871C>T (p.Gln291Ter) http://identifiers.org/clinvar/234728 ^@ NM_001456.3(FLNA):c.6523G>A (p.Gly2175Ser) http://identifiers.org/clinvar/232151 ^@ NM_001128425.1(MUTYH):c.933A>T (p.Arg311Ser) http://identifiers.org/clinvar/233944 ^@ NM_001128425.1(MUTYH):c.8C>T (p.Pro3Leu) http://identifiers.org/clinvar/232902 ^@ NM_000465.3(BARD1):c.1023delG (p.Ser342Alafs) http://identifiers.org/clinvar/229752 ^@ NM_000465.3(BARD1):c.75C>T (p.Ala25=) http://identifiers.org/clinvar/233002 ^@ NM_000251.2(MSH2):c.693C>T (p.Asp231=) http://identifiers.org/clinvar/233894 ^@ NM_000251.2(MSH2):c.1410A>T (p.Val470=) http://identifiers.org/clinvar/232251 ^@ NM_000179.2(MSH6):c.1501C>T (p.His501Tyr) http://identifiers.org/clinvar/232501 ^@ NM_000179.2(MSH6):c.2452C>T (p.Leu818Phe) http://identifiers.org/clinvar/233844 ^@ NM_000179.2(MSH6):c.2934G>A (p.Gln978=) http://identifiers.org/clinvar/232952 ^@ NM_000038.5(APC):c.2976T>C (p.Ser992=) http://identifiers.org/clinvar/264647 ^@ NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/264707 ^@ NM_000833.4(GRIN2A):c.2927A>G (p.Asn976Ser) http://identifiers.org/clinvar/264758 ^@ NM_001242896.1(DEPDC5):c.1625A>C (p.Gln542Pro) http://identifiers.org/clinvar/264863 ^@ NM_000059.3(BRCA2):c.631+1169dup http://identifiers.org/clinvar/264963 ^@ NM_000059.3(BRCA2):c.7007+847dup http://identifiers.org/clinvar/264913 ^@ NM_000059.3(BRCA2):c.7805+198A>G http://identifiers.org/clinvar/264813 ^@ NM_007294.3(BRCA1):c.135-2524_135-2509dup http://identifiers.org/clinvar/265015 ^@ NM_000350.2(ABCA4):c.3194G>A (p.Gly1065Asp) http://identifiers.org/clinvar/265373 ^@ NM_000038.5(APC):c.1409-6A>G http://identifiers.org/clinvar/265068 ^@ NM_021098.2(CACNA1H):c.2537C>T (p.Ala846Val) http://identifiers.org/clinvar/265168 ^@ NM_000512.4(GALNS):c.539T>C (p.Val180Ala) http://identifiers.org/clinvar/265273 ^@ NM_000363.4(TNNI3):c.107A>C (p.Lys36Thr) http://identifiers.org/clinvar/265118 ^@ NM_001972.3(ELANE):c.556G>A (p.Val186Ile) http://identifiers.org/clinvar/265423 ^@ NM_000214.2(JAG1):c.148C>T (p.Gln50Ter) http://identifiers.org/clinvar/265220 ^@ NM_000425.4(L1CAM):c.177delC (p.Ser60Valfs) http://identifiers.org/clinvar/265323 ^@ NM_003688.3(CASK):c.2329G>T (p.Glu777Ter) http://identifiers.org/clinvar/267084 ^@ NM_000059.3(BRCA2):c.842_843delAC (p.Asp281Alafs) http://identifiers.org/clinvar/266984 ^@ NM_000059.3(BRCA2):c.7090G>T (p.Glu2364Ter) http://identifiers.org/clinvar/267034 ^@ NM_000059.3(BRCA2):c.7762_7766dupATACC (p.Ser2590Tyrfs) http://identifiers.org/clinvar/267134 ^@ NM_000059.3(BRCA2):c.9052delA (p.Ser3018Valfs) http://identifiers.org/clinvar/266534 ^@ NM_007294.3(BRCA1):c.5212G>T (p.Gly1738Ter) http://identifiers.org/clinvar/267195 ^@ NC_000011.8:g.30874642_31654833del780192 http://identifiers.org/clinvar/267254 ^@ NM_015247.2(CYLD):c.2515delT (p.Ser839Hisfs) http://identifiers.org/clinvar/267334 ^@ NC_000007.14:g.(?_5986753)_(6009025_?)del http://identifiers.org/clinvar/267403 ^@ c.3802delG http://identifiers.org/clinvar/267485 ^@ NC_000016.9:g.(?_88666177)_(89472627_?)del http://identifiers.org/clinvar/267745 ^@ NG_009018.1:g.134769_136954del2186 http://identifiers.org/clinvar/267641 ^@ NM_000059.3(BRCA2):c.426-?_631+?del http://identifiers.org/clinvar/267691 ^@ NM_000059.3(BRCA2):c.7977-3_7977-1delinsAA http://identifiers.org/clinvar/267541 ^@ NM_007294.3(BRCA1):c.442-?_5467+?del http://identifiers.org/clinvar/267591 ^@ NM_007294.3(BRCA1):c.5278-?_5406+?dup http://identifiers.org/clinvar/267820 ^@ 46;XY;t(16;20)(q11.2;q13.2)dn http://identifiers.org/clinvar/267871 ^@ 46;X;t(X;8)(p22;p21)dn http://identifiers.org/clinvar/267921 ^@ 46;XX;t(7;12)(p13;q24.33)dn http://identifiers.org/clinvar/267971 ^@ 46;X;inv(X)(q27q28) http://identifiers.org/clinvar/268021 ^@ 46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn http://identifiers.org/clinvar/268074 ^@ NC_000002.11:g.(?_221819192)_(222401086_?)del http://identifiers.org/clinvar/268138 ^@ NG_012054.1:g.42408_42412delCCTTA http://identifiers.org/clinvar/268209 ^@ NM_000834.3(GRIN2B):c.2045G>A (p.Arg682His) http://identifiers.org/clinvar/291379 ^@ NM_001918.3(DBT):c.*8900A>T http://identifiers.org/clinvar/291429 ^@ NM_001918.3(DBT):c.*2822T>G http://identifiers.org/clinvar/291479 ^@ NM_001854.3(COL11A1):c.*1091A>T http://identifiers.org/clinvar/291529 ^@ NM_001854.3(COL11A1):c.1896G>A (p.Met632Ile) http://identifiers.org/clinvar/291579 ^@ NM_015074.3(KIF1B):c.4041T>C (p.His1347=) http://identifiers.org/clinvar/292471 ^@ NM_005267.4(GJA8):c.1069A>G (p.Thr357Ala) http://identifiers.org/clinvar/292621 ^@ NM_000449.3(RFX5):c.-74T>G http://identifiers.org/clinvar/292321 ^@ NM_006623.3(PHGDH):c.1326G>A (p.Thr442=) http://identifiers.org/clinvar/292721 ^@ NM_001111.4(ADAR):c.*1549T>A http://identifiers.org/clinvar/292771 ^@ NM_001111.4(ADAR):c.1926T>C (p.His642=) http://identifiers.org/clinvar/292871 ^@ NM_001012331.1(NTRK1):c.157G>C (p.Asp53His) http://identifiers.org/clinvar/292221 ^@ NM_005957.4(MTHFR):c.*513C>T http://identifiers.org/clinvar/292671 ^@ NM_152263.3(TPM3):c.*2069C>T http://identifiers.org/clinvar/292971 ^@ NM_003126.2(SPTA1):c.5410C>T (p.Leu1804Phe) http://identifiers.org/clinvar/292271 ^@ NM_000198.3(HSD3B2):c.*121C>A http://identifiers.org/clinvar/293071 ^@ NM_002241.4(KCNJ10):c.*3617A>T http://identifiers.org/clinvar/293121 ^@ NM_002241.4(KCNJ10):c.-168C>A http://identifiers.org/clinvar/292371 ^@ NM_014874.3(MFN2):c.153G>T (p.Gln51His) http://identifiers.org/clinvar/293271 ^@ NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) http://identifiers.org/clinvar/293021 ^@ NM_003126.2(SPTA1):c.2160C>T (p.Ala720=) http://identifiers.org/clinvar/292421 ^@ NM_213653.3(HFE2):c.201A>C (p.Gly67=) http://identifiers.org/clinvar/293471 ^@ NM_005149.2(TBX19):c.603+10_603+11insTT http://identifiers.org/clinvar/293171 ^@ NM_000702.3(ATP1A2):c.*1290T>C http://identifiers.org/clinvar/292521 ^@ NM_019032.5(ADAMTSL4):c.584C>T (p.Pro195Leu) http://identifiers.org/clinvar/292571 ^@ NM_019032.5(ADAMTSL4):c.*295G>C http://identifiers.org/clinvar/293521 ^@ NM_006996.2(SLC19A2):c.1486A>G (p.Thr496Ala) http://identifiers.org/clinvar/292921 ^@ NM_003126.2(SPTA1):c.*294A>G http://identifiers.org/clinvar/292821 ^@ NM_000298.5(PKLR):c.6G>A (p.Ser2=) http://identifiers.org/clinvar/293971 ^@ NM_002065.6(GLUL):c.-718G>C http://identifiers.org/clinvar/293221 ^@ NM_002857.3(PEX19):c.*361G>A http://identifiers.org/clinvar/293421 ^@ NM_004431.4(EPHA2):c.1864+15delC http://identifiers.org/clinvar/293321 ^@ NM_003001.3(SDHC):c.*115T>G http://identifiers.org/clinvar/293371 ^@ NM_006182.2(DDR2):c.-27-11G>C http://identifiers.org/clinvar/295010 ^@ NM_032409.2(PINK1):c.*18G>A http://identifiers.org/clinvar/295160 ^@ NM_005216.4(DDOST):c.134C>G (p.Pro45Arg) http://identifiers.org/clinvar/344202 ^@ NM_198407.2(GHSR):c.60C>T (p.Asp20=) http://identifiers.org/clinvar/343452 ^@ NM_000532.4(PCCB):c.-46A>T http://identifiers.org/clinvar/344402 ^@ NM_003722.4(TP63):c.*627T>C http://identifiers.org/clinvar/343702 ^@ NM_032383.4(HPS3):c.1153G>A (p.Val385Ile) http://identifiers.org/clinvar/336483 ^@ NM_000145.3(FSHR):c.1030G>C (p.Val344Leu) http://identifiers.org/clinvar/344652 ^@ NM_003242.5(TGFBR2):c.-193G>A http://identifiers.org/clinvar/343852 ^@ NM_005677.3(COLQ):c.389G>A (p.Arg130Lys) http://identifiers.org/clinvar/336683 ^@ NM_002618.3(PEX13):c.*813G>C http://identifiers.org/clinvar/344052 ^@ NM_001041.3(SI):c.1715+8C>A http://identifiers.org/clinvar/336583 ^@ NM_001135659.2(NRXN1):c.-1263G>C http://identifiers.org/clinvar/336933 ^@ NM_032601.3(MCEE):c.*262G>A http://identifiers.org/clinvar/344452 ^@ NM_006580.3(CLDN16):c.*74A>G http://identifiers.org/clinvar/344502 ^@ NM_015560.2(OPA1):c.*1425G>A http://identifiers.org/clinvar/336833 ^@ NM_002056.3(GFPT1):c.*2473C>T http://identifiers.org/clinvar/344702 ^@ NM_003242.5(TGFBR2):c.*1815C>T http://identifiers.org/clinvar/337133 ^@ NM_013247.4(HTRA2):c.825T>C (p.Val275=) http://identifiers.org/clinvar/337483 ^@ NM_017849.3(TMEM127):c.*1306C>T http://identifiers.org/clinvar/346141 ^@ NM_052859.3(RFT1):c.*2950C>T http://identifiers.org/clinvar/337383 ^@ NM_022912.2(REEP1):c.*452_*453delCA http://identifiers.org/clinvar/337433 ^@ NM_144563.2(RPIA):c.633G>A (p.Lys211=) http://identifiers.org/clinvar/342263 ^@ NM_033084.4(FANCD2):c.1214A>G (p.Asn405Ser) http://identifiers.org/clinvar/342463 ^@ NM_000551.3(VHL):c.*2117delA http://identifiers.org/clinvar/342413 ^@ NM_000551.3(VHL):c.*523delG http://identifiers.org/clinvar/342513 ^@ NM_000551.3(VHL):c.*3645_*3646insGT http://identifiers.org/clinvar/342563 ^@ NM_198196.2(CD96):c.*824A>T http://identifiers.org/clinvar/342613 ^@ NM_000796.5(DRD3):c.-388T>A http://identifiers.org/clinvar/342663 ^@ NM_020754.3(ARHGAP31):c.2814G>T (p.Gln938His) http://identifiers.org/clinvar/343602 ^@ NM_001184.3(ATR):c.5052T>C (p.His1684=) http://identifiers.org/clinvar/343502 ^@ NM_024334.2(TMEM43):c.246G>A (p.Pro82=) http://identifiers.org/clinvar/343952 ^@ NM_020800.2(IFT80):c.*1222_*1223dupTA http://identifiers.org/clinvar/354118 ^@ NM_022132.4(MCCC2):c.*839T>C http://identifiers.org/clinvar/362206 ^@ NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) http://identifiers.org/clinvar/353918 ^@ NM_001104631.1(PDE4D):c.*4675G>A http://identifiers.org/clinvar/362256 ^@ NM_130849.3(SLC39A4):c.532A>T (p.Ser178Cys) http://identifiers.org/clinvar/354168 ^@ NM_003719.3(PDE8B):c.2130G>A (p.Arg710=) http://identifiers.org/clinvar/362506 ^@ NM_005144.4(HR):c.1907A>G (p.Glu636Gly) http://identifiers.org/clinvar/354468 ^@ NM_004385.4(VCAN):c.*2C>T http://identifiers.org/clinvar/362606 ^@ NM_006129.4(BMP1):c.*108A>C http://identifiers.org/clinvar/354318 ^@ NM_000046.3(ARSB):c.-239T>A http://identifiers.org/clinvar/354568 ^@ NM_002397.4(MEF2C):c.*2678C>A http://identifiers.org/clinvar/354368 ^@ NM_002454.2(MTRR):c.*264delT http://identifiers.org/clinvar/354418 ^@ NM_004385.4(VCAN):c.3282A>G (p.Pro1094=) http://identifiers.org/clinvar/362756 ^@ NM_001017420.2(ESCO2):c.*130delGinsACACACACACA http://identifiers.org/clinvar/362806 ^@ NM_000553.4(WRN):c.2312G>C (p.Cys771Ser) http://identifiers.org/clinvar/354818 ^@ NM_007214.4(SEC63):c.*3498C>T http://identifiers.org/clinvar/354868 ^@ NM_007214.4(SEC63):c.*1526T>C http://identifiers.org/clinvar/354918 ^@ NM_007214.4(SEC63):c.230T>C (p.Ile77Thr) http://identifiers.org/clinvar/355319 ^@ NM_000045.3(ARG1):c.305+7T>C http://identifiers.org/clinvar/355419 ^@ NM_006208.2(ENPP1):c.*3528C>T http://identifiers.org/clinvar/360057 ^@ NM_198428.2(BBS9):c.-163G>C http://identifiers.org/clinvar/360107 ^@ NM_133468.4(BMPER):c.1086C>T (p.Gly362=) http://identifiers.org/clinvar/360407 ^@ NM_014855.2(AP5Z1):c.*2500C>T http://identifiers.org/clinvar/365045 ^@ NM_003165.3(STXBP1):c.-157C>T http://identifiers.org/clinvar/360807 ^@ NM_005751.4(AKAP9):c.-211C>A http://identifiers.org/clinvar/356458 ^@ NM_021922.2(FANCE):c.*401G>C http://identifiers.org/clinvar/365195 ^@ NM_014908.3(DOLK):c.633C>T (p.Arg211=) http://identifiers.org/clinvar/356308 ^@ NM_006929.4(SKIV2L):c.-22A>T http://identifiers.org/clinvar/356358 ^@ NM_148919.3(PSMB8):c.*24G>T http://identifiers.org/clinvar/365445 ^@ NM_000368.4(TSC1):c.*2638C>T http://identifiers.org/clinvar/361207 ^@ NM_178857.5(RP1L1):c.6992C>T (p.Thr2331Met) http://identifiers.org/clinvar/365495 ^@ NM_000368.4(TSC1):c.*548C>A http://identifiers.org/clinvar/356558 ^@ NM_001145717.1(PNPLA1):c.439-7C>T http://identifiers.org/clinvar/365595 ^@ NM_014694.3(ADAMTSL2):c.1358_1360delTCT (p.Phe453del) http://identifiers.org/clinvar/361257 ^@ NM_178857.5(RP1L1):c.5211G>A (p.Gly1737=) http://identifiers.org/clinvar/356908 ^@ NM_006502.2(POLH):c.1266T>C (p.Leu422=) http://identifiers.org/clinvar/356958 ^@ NM_006502.2(POLH):c.*2042_*2043dupAA http://identifiers.org/clinvar/356708 ^@ NM_002098.5(GUCA1B):c.*928A>G http://identifiers.org/clinvar/365896 ^@ NM_019892.5(INPP5E):c.-239C>G http://identifiers.org/clinvar/356858 ^@ NM_014780.4(CUL7):c.161G>T (p.Gly54Val) http://identifiers.org/clinvar/365946 ^@ NM_016219.4(MAN1B1):c.441G>A (p.Glu147=) http://identifiers.org/clinvar/366096 ^@ NM_144966.5(FREM1):c.*139delA http://identifiers.org/clinvar/357008 ^@ NM_006502.2(POLH):c.*5075_*5076delAG http://identifiers.org/clinvar/367135 ^@ NM_004972.3(JAK2):c.3177G>A (p.Ala1059=) http://identifiers.org/clinvar/367185 ^@ NM_000170.2(GLDC):c.1815C>T (p.Leu605=) http://identifiers.org/clinvar/367285 ^@ NM_017662.4(TRPM6):c.*716_*717delAT http://identifiers.org/clinvar/303537 ^@ NM_017547.3(FOXRED1):c.658C>T (p.Pro220Ser) http://identifiers.org/clinvar/367514 ^@ NM_004560.3(ROR2):c.717C>T (p.Cys239=) http://identifiers.org/clinvar/367564 ^@ NM_000507.3(FBP1):c.-208C>G http://identifiers.org/clinvar/303787 ^@ NM_000352.4(ABCC8):c.413-15A>G http://identifiers.org/clinvar/303837 ^@ NM_001909.4(CTSD):c.940G>A (p.Ala314Thr) http://identifiers.org/clinvar/312035 ^@ NM_207361.5(FREM2):c.8918A>G (p.Lys2973Arg) http://identifiers.org/clinvar/303887 ^@ NM_181507.1(HPS5):c.1510+3G>A http://identifiers.org/clinvar/367235 ^@ NM_004817.3(TJP2):c.3371C>T (p.Thr1124Met) http://identifiers.org/clinvar/367314 ^@ NM_017662.4(TRPM6):c.2442G>A (p.Gln814=) http://identifiers.org/clinvar/312135 ^@ NM_020751.2(COG6):c.607A>C (p.Asn203His) http://identifiers.org/clinvar/312235 ^@ NM_003701.3(TNFSF11):c.534T>C (p.Gly178=) http://identifiers.org/clinvar/367464 ^@ NM_058179.3(PSAT1):c.*422C>T http://identifiers.org/clinvar/312285 ^@ NM_000321.2(RB1):c.616T>C (p.Leu206=) http://identifiers.org/clinvar/367664 ^@ NM_000264.3(PTCH1):c.4033C>T (p.Arg1345Cys) http://identifiers.org/clinvar/312635 ^@ NM_001376.4(DYNC1H1):c.6339G>A (p.Arg2113=) http://identifiers.org/clinvar/312685 ^@ NM_022489.3(INF2):c.1144A>G (p.Ser382Gly) http://identifiers.org/clinvar/312735 ^@ NM_000270.3(PNP):c.678C>T (p.Ile226=) http://identifiers.org/clinvar/312885 ^@ NM_002471.3(MYH6):c.-46-12C>A http://identifiers.org/clinvar/299209 ^@ NM_021980.4(OPTN):c.247C>T (p.Arg83Cys) http://identifiers.org/clinvar/299259 ^@ NM_006214.3(PHYH):c.176A>C (p.Lys59Thr) http://identifiers.org/clinvar/305528 ^@ NM_006946.2(SPTBN2):c.6751C>T (p.Arg2251Trp) http://identifiers.org/clinvar/305678 ^@ NM_145200.3(CABP4):c.*1390C>T http://identifiers.org/clinvar/305728 ^@ NM_003977.3(AIP):c.516C>T (p.Asp172=) http://identifiers.org/clinvar/314824 ^@ NM_018319.3(TDP1):c.291A>G (p.Gln97=) http://identifiers.org/clinvar/314974 ^@ NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) http://identifiers.org/clinvar/305878 ^@ NM_002180.2(IGHMBP2):c.*692A>G http://identifiers.org/clinvar/315074 ^@ NM_177438.2(DICER1):c.*1718_*1719delTG http://identifiers.org/clinvar/315274 ^@ NM_139057.3(ADAMTS17):c.2004C>T (p.His668=) http://identifiers.org/clinvar/315324 ^@ NM_139057.3(ADAMTS17):c.80-10C>G http://identifiers.org/clinvar/306291 ^@ NM_020376.3(PNPLA2):c.-117G>A http://identifiers.org/clinvar/306392 ^@ NM_012193.3(FZD4):c.*764T>C http://identifiers.org/clinvar/315624 ^@ NM_133647.1(SLC12A6):c.168G>A (p.Arg56=) http://identifiers.org/clinvar/315674 ^@ NM_005159.4(ACTC1):c.*868T>G http://identifiers.org/clinvar/315724 ^@ NM_152594.2(SPRED1):c.-309C>T http://identifiers.org/clinvar/315924 ^@ NM_138477.2(CDAN1):c.2984G>A (p.Arg995His) http://identifiers.org/clinvar/329836 ^@ NM_002103.4(GYS1):c.-182T>G http://identifiers.org/clinvar/329886 ^@ NM_030973.3(MED25):c.1675-7C>T http://identifiers.org/clinvar/330036 ^@ NM_144687.3(NLRP12):c.861G>A (p.Glu287=) http://identifiers.org/clinvar/318566 ^@ NM_001089.2(ABCA3):c.838C>T (p.Arg280Cys) http://identifiers.org/clinvar/330086 ^@ NM_015629.3(PRPF31):c.-207G>A http://identifiers.org/clinvar/330186 ^@ NM_206828.3(NLRP7):c.66A>G (p.Leu22=) http://identifiers.org/clinvar/330436 ^@ NM_000208.3(INSR):c.*104A>G http://identifiers.org/clinvar/337883 ^@ NM_000361.2(THBD):c.1418C>T (p.Ala473Val) http://identifiers.org/clinvar/337933 ^@ NM_198994.2(TGM6):c.1656C>T (p.Ala552=) http://identifiers.org/clinvar/312485 ^@ NM_052910.2(SLITRK1):c.*1030G>A http://identifiers.org/clinvar/319556 ^@ NM_015247.2(CYLD):c.*3722T>G http://identifiers.org/clinvar/319606 ^@ NM_002968.2(SALL1):c.2399A>G (p.Asp800Gly) http://identifiers.org/clinvar/319756 ^@ NM_004530.5(MMP2):c.1149T>C (p.Asp383=) http://identifiers.org/clinvar/319906 ^@ NM_000339.2(SLC12A3):c.1774G>A (p.Ala592Thr) http://identifiers.org/clinvar/312835 ^@ NM_001126106.2(SLC7A7):c.-263G>C http://identifiers.org/clinvar/320056 ^@ NM_001297.4(CNGB1):c.3590C>A (p.Pro1197Gln) http://identifiers.org/clinvar/312935 ^@ NM_006177.3(NRL):c.*221G>A http://identifiers.org/clinvar/320106 ^@ NM_001297.4(CNGB1):c.453C>T (p.Asp151=) http://identifiers.org/clinvar/338973 ^@ NM_004738.4(VAPB):c.*3315A>G http://identifiers.org/clinvar/339073 ^@ NM_001001433.2(STX16):c.*1378A>T http://identifiers.org/clinvar/320506 ^@ NM_021615.4(CHST6):c.*5441C>T http://identifiers.org/clinvar/339123 ^@ NM_207034.2(EDN3):c.293C>A (p.Thr98Lys) http://identifiers.org/clinvar/320556 ^@ NM_021615.4(CHST6):c.*2055delA http://identifiers.org/clinvar/320656 ^@ NM_022041.3(GAN):c.1183G>C (p.Asp395His) http://identifiers.org/clinvar/339223 ^@ NM_017671.4(FERMT1):c.780A>G (p.Gln260=) http://identifiers.org/clinvar/339323 ^@ NM_172107.3(KCNQ2):c.*413G>A http://identifiers.org/clinvar/311985 ^@ NM_207361.5(FREM2):c.4968C>T (p.Pro1656=) http://identifiers.org/clinvar/339423 ^@ NM_025219.2(DNAJC5):c.*3252G>A http://identifiers.org/clinvar/339473 ^@ NM_012469.3(PRPF6):c.1239G>A (p.Leu413=) http://identifiers.org/clinvar/312085 ^@ NM_207361.5(FREM2):c.*3929G>T http://identifiers.org/clinvar/339573 ^@ NM_000933.3(PLCB4):c.2118+8C>A http://identifiers.org/clinvar/312185 ^@ NM_014252.3(SLC25A15):c.*159C>G http://identifiers.org/clinvar/339723 ^@ NM_000219.5(KCNE1):c.*2461A>G http://identifiers.org/clinvar/339823 ^@ NM_001754.4(RUNX1):c.*2678A>G http://identifiers.org/clinvar/339923 ^@ NM_000411.6(HLCS):c.*2434G>T http://identifiers.org/clinvar/312385 ^@ NM_000053.3(ATP7B):c.3105C>T (p.Gly1035=) http://identifiers.org/clinvar/312435 ^@ NM_006493.2(CLN5):c.*310T>C http://identifiers.org/clinvar/312585 ^@ NM_005708.4(GPC6):c.*1669T>G http://identifiers.org/clinvar/328347 ^@ NM_000156.5(GAMT):c.419C>T (p.Ser140Leu) http://identifiers.org/clinvar/342213 ^@ NM_000487.5(ARSA):c.*1012C>T http://identifiers.org/clinvar/328397 ^@ NM_000435.2(NOTCH3):c.3256G>A (p.Asp1086Asn) http://identifiers.org/clinvar/367764 ^@ NM_002294.2(LAMP2):c.*2148A>G http://identifiers.org/clinvar/367814 ^@ NM_001167.3(XIAP):c.*2682T>G http://identifiers.org/clinvar/328647 ^@ NM_003721.3(RFXANK):c.712+4A>G http://identifiers.org/clinvar/328797 ^@ NM_000285.3(PEPD):c.1156G>A (p.Val386Met) http://identifiers.org/clinvar/328947 ^@ NM_032753.3(RAX2):c.*1082_*1092delTCCCAGATCAC http://identifiers.org/clinvar/368214 ^@ NM_004006.2(DMD):c.*1425_*1428dupTAAA http://identifiers.org/clinvar/328997 ^@ NM_000540.2(RYR1):c.2545G>A (p.Asp849Asn) http://identifiers.org/clinvar/327347 ^@ NM_000140.3(FECH):c.*4106A>G http://identifiers.org/clinvar/327997 ^@ NM_001005360.2(DNM2):c.*22C>T http://identifiers.org/clinvar/329986 ^@ NM_144687.3(NLRP12):c.*362G>T http://identifiers.org/clinvar/328247 ^@ NM_000455.4(STK11):c.*843_*851delTGGGAAGCT http://identifiers.org/clinvar/328297 ^@ NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) http://identifiers.org/clinvar/330236 ^@ NM_175614.4(NDUFA11):c.233C>T (p.Ala78Val) http://identifiers.org/clinvar/328547 ^@ NM_000453.2(SLC5A5):c.*161C>T http://identifiers.org/clinvar/330486 ^@ NM_020533.2(MCOLN1):c.60C>T (p.Pro20=) http://identifiers.org/clinvar/330536 ^@ NM_006702.4(PNPLA6):c.3435T>C (p.Val1145=) http://identifiers.org/clinvar/328697 ^@ NM_001031726.3(C19orf12):c.*1536T>C http://identifiers.org/clinvar/337783 ^@ NM_006363.4(SEC23B):c.-94C>G http://identifiers.org/clinvar/329786 ^@ NM_000146.3(FTL):c.73C>T (p.Leu25=) http://identifiers.org/clinvar/329936 ^@ NM_024729.3(MYH14):c.3790C>T (p.Arg1264Cys) http://identifiers.org/clinvar/339273 ^@ NM_001853.3(COL9A3):c.552G>T (p.Gly184=) http://identifiers.org/clinvar/339523 ^@ NM_015192.3(PLCB1):c.*423G>A http://identifiers.org/clinvar/330336 ^@ NM_000064.3(C3):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/330386 ^@ NM_000208.3(INSR):c.*2464C>T http://identifiers.org/clinvar/339973 ^@ NM_000411.6(HLCS):c.52+9C>A http://identifiers.org/clinvar/337833 ^@ NM_024411.4(PDYN):c.*103C>T http://identifiers.org/clinvar/338823 ^@ NM_000782.4(CYP24A1):c.861C>A (p.Asp287Glu) http://identifiers.org/clinvar/340913 ^@ NM_003073.4(SMARCB1):c.628+13C>T http://identifiers.org/clinvar/338873 ^@ NM_002591.3(PCK1):c.228G>T (p.Trp76Cys) http://identifiers.org/clinvar/340963 ^@ NM_022081.5(HPS4):c.*1752C>G http://identifiers.org/clinvar/341013 ^@ NM_022081.5(HPS4):c.922A>G (p.Thr308Ala) http://identifiers.org/clinvar/339173 ^@ NM_017671.4(FERMT1):c.*2073A>T http://identifiers.org/clinvar/339373 ^@ NM_025219.2(DNAJC5):c.*750G>T http://identifiers.org/clinvar/341413 ^@ NM_004737.5(LARGE1):c.*998A>G http://identifiers.org/clinvar/341563 ^@ NM_013416.3(NCF4):c.*158C>T http://identifiers.org/clinvar/339673 ^@ NM_178817.3(MRAP):c.-130A>G http://identifiers.org/clinvar/341763 ^@ NM_022098.3(XPNPEP3):c.*6201A>T http://identifiers.org/clinvar/341813 ^@ NM_001429.3(EP300):c.5172C>A (p.Thr1724=) http://identifiers.org/clinvar/339873 ^@ NM_001754.4(RUNX1):c.*68G>T http://identifiers.org/clinvar/340023 ^@ NM_020639.2(RIPK4):c.1193G>T (p.Ser398Ile) http://identifiers.org/clinvar/342013 ^@ NM_018006.4(TRMU):c.941C>G (p.Ala314Gly) http://identifiers.org/clinvar/381770 ^@ NM_004329.2(BMPR1A):c.594A>C (p.Ala198=) http://identifiers.org/clinvar/389314 ^@ NM_007327.3(GRIN1):c.793+15T>C http://identifiers.org/clinvar/383463 ^@ NM_007327.3(GRIN1):c.2133C>T (p.Tyr711=) http://identifiers.org/clinvar/384665 ^@ NM_000535.6(PMS2):c.456C>T (p.Pro152=) http://identifiers.org/clinvar/377628 ^@ NM_005188.3(CBL):c.195+3G>A http://identifiers.org/clinvar/390903 ^@ NM_001909.4(CTSD):c.636G>T (p.Leu212=) http://identifiers.org/clinvar/382121 ^@ NM_000399.4(EGR2):c.-211T>C http://identifiers.org/clinvar/389664 ^@ NM_032578.3(MYPN):c.3417C>G (p.Arg1139=) http://identifiers.org/clinvar/385215 ^@ NM_004281.3(BAG3):c.460G>C (p.Val154Leu) http://identifiers.org/clinvar/385465 ^@ NM_002180.2(IGHMBP2):c.2145C>T (p.Gly715=) http://identifiers.org/clinvar/389614 ^@ NM_015531.5(C2CD3):c.2068C>G (p.Pro690Ala) http://identifiers.org/clinvar/379277 ^@ NM_000051.3(ATM):c.4236+11A>G http://identifiers.org/clinvar/391503 ^@ NM_000051.3(ATM):c.2223T>C (p.Tyr741=) http://identifiers.org/clinvar/385115 ^@ NM_006231.3(POLE):c.1467C>T (p.Pro489=) http://identifiers.org/clinvar/381320 ^@ NM_000218.2(KCNQ1):c.705C>T (p.Ile235=) http://identifiers.org/clinvar/383875 ^@ NM_001130438.2(SPTAN1):c.1286C>T (p.Ala429Val) http://identifiers.org/clinvar/384715 ^@ NM_152264.4(SLC39A13):c.301+15G>A http://identifiers.org/clinvar/391053 ^@ NM_001844.4(COL2A1):c.610-8C>T http://identifiers.org/clinvar/391103 ^@ NM_001273.3(CHD4):c.4979A>G (p.Lys1660Arg) http://identifiers.org/clinvar/389514 ^@ NM_000545.6(HNF1A):c.-23-324G>A http://identifiers.org/clinvar/390403 ^@ NM_001876.3(CPT1A):c.1352+14C>A http://identifiers.org/clinvar/381270 ^@ NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) http://identifiers.org/clinvar/390953 ^@ NM_017617.4(NOTCH1):c.7047G>A (p.Pro2349=) http://identifiers.org/clinvar/389564 ^@ NM_021625.4(TRPV4):c.2208+3G>A http://identifiers.org/clinvar/385365 ^@ NM_007327.3(GRIN1):c.1865-13C>T http://identifiers.org/clinvar/381370 ^@ NM_000719.6(CACNA1C):c.4122C>T (p.Tyr1374=) http://identifiers.org/clinvar/388964 ^@ NM_004982.3(KCNJ8):c.138G>T (p.Ala46=) http://identifiers.org/clinvar/379777 ^@ NM_020297.3(ABCC9):c.3221A>G (p.Asn1074Ser) http://identifiers.org/clinvar/384965 ^@ NM_000719.6(CACNA1C):c.3157-16G>C http://identifiers.org/clinvar/382322 ^@ NM_001134363.2(RBM20):c.785C>G (p.Thr262Ser) http://identifiers.org/clinvar/383524 ^@ NM_213649.1(SFXN4):c.660A>G (p.Glu220=) http://identifiers.org/clinvar/389114 ^@ NM_130838.1(UBE3A):c.636T>C (p.Asp212=) http://identifiers.org/clinvar/385315 ^@ NM_000059.3(BRCA2):c.6937+17A>T http://identifiers.org/clinvar/390703 ^@ NM_000059.3(BRCA2):c.9687T>A (p.Pro3229=) http://identifiers.org/clinvar/390803 ^@ NM_000209.3(PDX1):c.732C>G (p.Pro244=) http://identifiers.org/clinvar/377578 ^@ NM_000059.3(BRCA2):c.1743C>T (p.Ser581=) http://identifiers.org/clinvar/385165 ^@ NM_000137.2(FAH):c.870C>T (p.Asp290=) http://identifiers.org/clinvar/379477 ^@ NM_000059.3(BRCA2):c.7470A>G (p.Ile2490Met) http://identifiers.org/clinvar/381821 ^@ NM_139242.3(MTFMT):c.1092A>G (p.Gln364=) http://identifiers.org/clinvar/381520 ^@ NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) http://identifiers.org/clinvar/47430 ^@ NM_001256850.1(TTN):c.78947G>C (p.Arg26316Thr) http://identifiers.org/clinvar/47480 ^@ NM_001256850.1(TTN):c.83553C>G (p.Thr27851=) http://identifiers.org/clinvar/47530 ^@ NM_133378.4(TTN):c.85539C>T (p.Ala28513=) http://identifiers.org/clinvar/47580 ^@ NM_133378.4(TTN):c.89407A>G (p.Ile29803Val) http://identifiers.org/clinvar/47630 ^@ NM_001256850.1(TTN):c.9290T>C (p.Leu3097Pro) http://identifiers.org/clinvar/47680 ^@ NM_133378.4(TTN):c.97281A>G (p.Gly32427=) http://identifiers.org/clinvar/47730 ^@ NM_001256850.1(TTN):c.10360+1641C>T http://identifiers.org/clinvar/47780 ^@ NM_133379.4(TTN):c.15193C>T (p.Pro5065Ser) http://identifiers.org/clinvar/47830 ^@ NM_001256850.1(TTN):c.11829G>A (p.Ala3943=) http://identifiers.org/clinvar/47880 ^@ NM_139212.3(HOPX):c.33G>A (p.Glu11=) http://identifiers.org/clinvar/47930 ^@ NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) http://identifiers.org/clinvar/293571 ^@ NM_000130.4(F5):c.6629A>T (p.Gln2210Leu) http://identifiers.org/clinvar/48523 ^@ NM_206933.2(USH2A):c.4837A>G (p.Ile1613Val) http://identifiers.org/clinvar/48524 ^@ NM_206933.2(USH2A):c.4983T>C (p.Asp1661=) http://identifiers.org/clinvar/48525 ^@ NM_206933.2(USH2A):c.4994T>C (p.Ile1665Thr) http://identifiers.org/clinvar/48526 ^@ NM_206933.2(USH2A):c.5001dupA (p.Gly1668Argfs) http://identifiers.org/clinvar/48527 ^@ NM_206933.2(USH2A):c.5013C>A (p.Gly1671=) http://identifiers.org/clinvar/48528 ^@ NM_206933.2(USH2A):c.504A>G (p.Thr168=) http://identifiers.org/clinvar/48529 ^@ NM_206933.2(USH2A):c.5142T>C (p.Asn1714=) http://identifiers.org/clinvar/48530 ^@ NM_206933.2(USH2A):c.5167+4A>G http://identifiers.org/clinvar/48531 ^@ NM_206933.2(USH2A):c.5367A>G (p.Leu1789=) http://identifiers.org/clinvar/48532 ^@ NM_206933.2(USH2A):c.5409C>G (p.Val1803=) http://identifiers.org/clinvar/48533 ^@ NM_206933.2(USH2A):c.5517G>A (p.Val1839=) http://identifiers.org/clinvar/48534 ^@ NM_206933.2(USH2A):c.5572+15G>A http://identifiers.org/clinvar/48535 ^@ NM_206933.2(USH2A):c.5581G>A (p.Gly1861Ser) http://identifiers.org/clinvar/48536 ^@ NM_206933.2(USH2A):c.5609G>A (p.Arg1870Gln) http://identifiers.org/clinvar/48537 ^@ NM_206933.2(USH2A):c.5612G>A (p.Gly1871Asp) http://identifiers.org/clinvar/48538 ^@ NM_206933.2(USH2A):c.5698T>G (p.Cys1900Gly) http://identifiers.org/clinvar/48539 ^@ NM_206933.2(USH2A):c.5739G>A (p.Glu1913=) http://identifiers.org/clinvar/48540 ^@ NM_206933.2(USH2A):c.573A>G (p.Val191=) http://identifiers.org/clinvar/48541 ^@ NM_206933.2(USH2A):c.5776+7T>G http://identifiers.org/clinvar/48542 ^@ NM_206933.2(USH2A):c.5783T>C (p.Leu1928Pro) http://identifiers.org/clinvar/48543 ^@ NM_206933.2(USH2A):c.5788C>T (p.Arg1930Ter) http://identifiers.org/clinvar/48544 ^@ NM_206933.2(USH2A):c.5857+2T>C http://identifiers.org/clinvar/48545 ^@ NM_206933.2(USH2A):c.5858-1G>A http://identifiers.org/clinvar/48546 ^@ NM_206933.2(USH2A):c.5858C>G (p.Ala1953Gly) http://identifiers.org/clinvar/48547 ^@ NM_206933.2(USH2A):c.5975A>G (p.Tyr1992Cys) http://identifiers.org/clinvar/48548 ^@ NM_206933.2(USH2A):c.5993G>A (p.Arg1998His) http://identifiers.org/clinvar/48549 ^@ NM_206933.2(USH2A):c.6041A>C (p.Asn2014Thr) http://identifiers.org/clinvar/48550 ^@ NM_206933.2(USH2A):c.6043C>T (p.Leu2015Phe) http://identifiers.org/clinvar/48551 ^@ NM_206933.2(USH2A):c.6050G>A (p.Gly2017Asp) http://identifiers.org/clinvar/48552 ^@ NM_206933.2(USH2A):c.6077A>G (p.Lys2026Arg) http://identifiers.org/clinvar/48553 ^@ NM_206933.2(USH2A):c.6134A>G (p.His2045Arg) http://identifiers.org/clinvar/48554 ^@ NM_206933.2(USH2A):c.6224G>A (p.Trp2075Ter) http://identifiers.org/clinvar/48555 ^@ NM_206933.2(USH2A):c.6240G>T (p.Lys2080Asn) http://identifiers.org/clinvar/48556 ^@ NM_206933.2(USH2A):c.6270A>G (p.Leu2090=) http://identifiers.org/clinvar/48557 ^@ NM_206933.2(USH2A):c.627G>A (p.Lys209=) http://identifiers.org/clinvar/48558 ^@ NM_206933.2(USH2A):c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs) http://identifiers.org/clinvar/48559 ^@ NM_206933.2(USH2A):c.6347A>G (p.His2116Arg) http://identifiers.org/clinvar/48560 ^@ NM_206933.2(USH2A):c.6369C>T (p.Cys2123=) http://identifiers.org/clinvar/48561 ^@ NM_206933.2(USH2A):c.6486G>A (p.Gln2162=) http://identifiers.org/clinvar/48562 ^@ NM_206933.2(USH2A):c.6506T>C (p.Ile2169Thr) http://identifiers.org/clinvar/48563 ^@ NM_206933.2(USH2A):c.6510T>G (p.Ser2170Arg) http://identifiers.org/clinvar/48564 ^@ NM_206933.2(USH2A):c.653T>A (p.Val218Glu) http://identifiers.org/clinvar/48565 ^@ NM_206933.2(USH2A):c.6587G>C (p.Ser2196Thr) http://identifiers.org/clinvar/48566 ^@ NM_206933.2(USH2A):c.6683T>A (p.Val2228Glu) http://identifiers.org/clinvar/48567 ^@ NM_206933.2(USH2A):c.6711C>A (p.Asp2237Glu) http://identifiers.org/clinvar/48568 ^@ NM_206933.2(USH2A):c.6713A>C (p.Glu2238Ala) http://identifiers.org/clinvar/48569 ^@ NM_206933.2(USH2A):c.6721C>T (p.Pro2241Ser) http://identifiers.org/clinvar/48570 ^@ NM_206933.2(USH2A):c.6800C>T (p.Pro2267Leu) http://identifiers.org/clinvar/48571 ^@ NM_206933.2(USH2A):c.6875G>A (p.Arg2292His) http://identifiers.org/clinvar/48572 ^@ NM_206933.2(USH2A):c.688G>A (p.Val230Met) http://identifiers.org/clinvar/48573 ^@ NM_206933.2(USH2A):c.6958-5C>T http://identifiers.org/clinvar/48574 ^@ NM_206933.2(USH2A):c.6969A>C (p.Arg2323=) http://identifiers.org/clinvar/48575 ^@ NM_206933.2(USH2A):c.7060C>T (p.Arg2354Cys) http://identifiers.org/clinvar/48576 ^@ NM_206933.2(USH2A):c.7068T>G (p.Asn2356Lys) http://identifiers.org/clinvar/48577 ^@ NM_206933.2(USH2A):c.7130A>G (p.Asn2377Ser) http://identifiers.org/clinvar/48578 ^@ NM_206933.2(USH2A):c.7160T>C (p.Met2387Thr) http://identifiers.org/clinvar/48579 ^@ NM_206933.2(USH2A):c.7244C>G (p.Ser2415Ter) http://identifiers.org/clinvar/48580 ^@ NM_206933.2(USH2A):c.7301-6C>T http://identifiers.org/clinvar/48581 ^@ NM_206933.2(USH2A):c.7334C>T (p.Ser2445Phe) http://identifiers.org/clinvar/48582 ^@ NM_206933.2(USH2A):c.7451+3G>A http://identifiers.org/clinvar/48583 ^@ NM_206933.2(USH2A):c.7452G>T (p.Glu2484Asp) http://identifiers.org/clinvar/48584 ^@ NM_206933.2(USH2A):c.7506G>A (p.Pro2502=) http://identifiers.org/clinvar/48585 ^@ NM_206933.2(USH2A):c.7584C>T (p.Thr2528=) http://identifiers.org/clinvar/48586 ^@ NM_206933.2(USH2A):c.7679A>G (p.Asn2560Ser) http://identifiers.org/clinvar/48587 ^@ NM_206933.2(USH2A):c.7844A>G (p.Gln2615Arg) http://identifiers.org/clinvar/48588 ^@ NM_206933.2(USH2A):c.7684G>T (p.Val2562Phe) http://identifiers.org/clinvar/48589 ^@ NM_206933.2(USH2A):c.7685T>C (p.Val2562Ala) http://identifiers.org/clinvar/48590 ^@ NM_206933.2(USH2A):c.7719T>C (p.Arg2573=) http://identifiers.org/clinvar/48591 ^@ NM_206933.2(USH2A):c.78T>C (p.Ala26=) http://identifiers.org/clinvar/48592 ^@ NM_206933.2(USH2A):c.802G>A (p.Gly268Arg) http://identifiers.org/clinvar/48593 ^@ NM_206933.2(USH2A):c.8120G>A (p.Gly2707Glu) http://identifiers.org/clinvar/48594 ^@ NM_206933.2(USH2A):c.8200G>A (p.Val2734Met) http://identifiers.org/clinvar/48595 ^@ NM_206933.2(USH2A):c.820C>T (p.Arg274Ter) http://identifiers.org/clinvar/48596 ^@ NM_206933.2(USH2A):c.8244C>T (p.Leu2748=) http://identifiers.org/clinvar/48597 ^@ NM_206933.2(USH2A):c.8320G>A (p.Ala2774Thr) http://identifiers.org/clinvar/48598 ^@ NM_206933.2(USH2A):c.8342C>T (p.Thr2781Ile) http://identifiers.org/clinvar/48599 ^@ NM_206933.2(USH2A):c.8357T>C (p.Phe2786Ser) http://identifiers.org/clinvar/48600 ^@ NM_206933.2(USH2A):c.8392G>A (p.Gly2798Arg) http://identifiers.org/clinvar/48601 ^@ NM_206933.2(USH2A):c.8431C>A (p.Pro2811Thr) http://identifiers.org/clinvar/48602 ^@ NM_206933.2(USH2A):c.848+5G>C http://identifiers.org/clinvar/48603 ^@ NM_206933.2(USH2A):c.854T>C (p.Ile285Thr) http://identifiers.org/clinvar/48604 ^@ NM_206933.2(USH2A):c.8559-2A>G http://identifiers.org/clinvar/48605 ^@ NM_206933.2(USH2A):c.8575C>T (p.Arg2859Cys) http://identifiers.org/clinvar/48606 ^@ NM_206933.2(USH2A):c.8624G>A (p.Arg2875Gln) http://identifiers.org/clinvar/48607 ^@ NM_206933.2(USH2A):c.8656C>T (p.Leu2886Phe) http://identifiers.org/clinvar/48608 ^@ NM_206933.2(USH2A):c.8709C>T (p.Phe2903=) http://identifiers.org/clinvar/48609 ^@ NM_206933.2(USH2A):c.879T>G (p.Leu293=) http://identifiers.org/clinvar/48610 ^@ NM_206933.2(USH2A):c.8805C>T (p.Val2935=) http://identifiers.org/clinvar/48611 ^@ NM_206933.2(USH2A):c.8981G>A (p.Trp2994Ter) http://identifiers.org/clinvar/48612 ^@ NM_206933.2(USH2A):c.9071T>A (p.Leu3024His) http://identifiers.org/clinvar/48613 ^@ NM_206933.2(USH2A):c.9159T>G (p.Tyr3053Ter) http://identifiers.org/clinvar/48614 ^@ NM_206933.2(USH2A):c.9203T>C (p.Val3068Ala) http://identifiers.org/clinvar/48615 ^@ NM_206933.2(USH2A):c.920_923dupGCCA (p.His308Glnfs) http://identifiers.org/clinvar/48616 ^@ NM_206933.2(USH2A):c.9213G>A (p.Ser3071=) http://identifiers.org/clinvar/48617 ^@ NM_206933.2(USH2A):c.9240C>A (p.Phe3080Leu) http://identifiers.org/clinvar/48618 ^@ NM_206933.2(USH2A):c.9262G>A (p.Glu3088Lys) http://identifiers.org/clinvar/48619 ^@ NM_206933.2(USH2A):c.9278A>T (p.Tyr3093Phe) http://identifiers.org/clinvar/48620 ^@ NM_206933.2(USH2A):c.9296A>G (p.Asn3099Ser) http://identifiers.org/clinvar/48621 ^@ NM_206933.2(USH2A):c.9304C>T (p.Gln3102Ter) http://identifiers.org/clinvar/48622 ^@ NM_206933.2(USH2A):c.9342A>G (p.Pro3114=) http://identifiers.org/clinvar/48623 ^@ NM_206933.2(USH2A):c.9343A>G (p.Thr3115Ala) http://identifiers.org/clinvar/48624 ^@ NM_206933.2(USH2A):c.9371+1G>C http://identifiers.org/clinvar/48625 ^@ NM_206933.2(USH2A):c.938C>A (p.Pro313His) http://identifiers.org/clinvar/48626 ^@ NM_206933.2(USH2A):c.9424G>T (p.Gly3142Ter) http://identifiers.org/clinvar/48627 ^@ NM_206933.2(USH2A):c.9430G>A (p.Asp3144Asn) http://identifiers.org/clinvar/48628 ^@ NM_206933.2(USH2A):c.9459C>A (p.Cys3153Ter) http://identifiers.org/clinvar/48629 ^@ NM_206933.2(USH2A):c.9495T>C (p.Asp3165=) http://identifiers.org/clinvar/48631 ^@ NM_206933.2(USH2A):c.9595A>G (p.Asn3199Asp) http://identifiers.org/clinvar/48632 ^@ NM_206933.2(USH2A):c.9636C>T (p.Ile3212=) http://identifiers.org/clinvar/48633 ^@ NM_206933.2(USH2A):c.9723C>T (p.Tyr3241=) http://identifiers.org/clinvar/48634 ^@ NM_206933.2(USH2A):c.9799T>C (p.Cys3267Arg) http://identifiers.org/clinvar/48635 ^@ NM_206933.2(USH2A):c.9915G>C (p.Glu3305Asp) http://identifiers.org/clinvar/48636 ^@ NM_206933.2(USH2A):c.9959-11T>G http://identifiers.org/clinvar/48637 ^@ NM_206933.2(USH2A):c.9989A>T (p.Asn3330Ile) http://identifiers.org/clinvar/48638 ^@ NM_213569.2(NEBL):c.-7C>T http://identifiers.org/clinvar/48639 ^@ NM_012238.4(SIRT1):c.320T>C (p.Leu107Pro) http://identifiers.org/clinvar/48646 ^@ NM_181523.2(PIK3R1):c.893G>A (p.Trp298Ter) http://identifiers.org/clinvar/48647 ^@ NM_032415.5(CARD11):c.401A>G (p.Glu134Gly) http://identifiers.org/clinvar/48648 ^@ NM_032415.5(CARD11):c.367G>A (p.Gly123Ser) http://identifiers.org/clinvar/48649 ^@ NM_032415.5(CARD11):c.2833C>T (p.Gln945Ter) http://identifiers.org/clinvar/48650 ^@ NM_032415.5(CARD11):c.2704-890_2839+352del http://identifiers.org/clinvar/48651 ^@ NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) http://identifiers.org/clinvar/48672 ^@ NM_000492.3(CFTR):c.223C>T (p.Arg75Ter) http://identifiers.org/clinvar/48674 ^@ NM_000492.3(CFTR):c.3587C>G (p.Ser1196Ter) http://identifiers.org/clinvar/48680 ^@ NM_000492.3(CFTR):c.274-1G>A http://identifiers.org/clinvar/48681 ^@ NM_000492.3(CFTR):c.1680-1G>A http://identifiers.org/clinvar/48684 ^@ NM_000492.3(CFTR):c.313delA (p.Ile105Serfs) http://identifiers.org/clinvar/48685 ^@ NM_000492.3(CFTR):c.1766+5G>T http://identifiers.org/clinvar/48688 ^@ NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) http://identifiers.org/clinvar/48692 ^@ NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/48700 ^@ NM_000492.3(CFTR):c.803delA (p.Asn268Ilefs) http://identifiers.org/clinvar/48704 ^@ NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) http://identifiers.org/clinvar/48708 ^@ NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) http://identifiers.org/clinvar/48714 ^@ NM_000492.3(CFTR):c.1090T>C (p.Ser364Pro) http://identifiers.org/clinvar/48726 ^@ NM_000368.4(TSC1):c.1001C>A (p.Ser334Ter) http://identifiers.org/clinvar/48727 ^@ NM_000368.4(TSC1):c.1006C>T (p.Arg336Trp) http://identifiers.org/clinvar/48728 ^@ NM_000368.4(TSC1):c.1020delA (p.Glu340Aspfs) http://identifiers.org/clinvar/48729 ^@ NM_000368.4(TSC1):c.1029+1G>A http://identifiers.org/clinvar/48730 ^@ NM_000368.4(TSC1):c.1030-1G>A http://identifiers.org/clinvar/48731 ^@ NM_000368.4(TSC1):c.1030-3C>G http://identifiers.org/clinvar/48732 ^@ NM_000368.4(TSC1):c.1030-9A>G http://identifiers.org/clinvar/48733 ^@ NM_000368.4(TSC1):c.1030delG (p.Ala344Leufs) http://identifiers.org/clinvar/48734 ^@ NM_000368.4(TSC1):c.1040G>A (p.Trp347Ter) http://identifiers.org/clinvar/48735 ^@ NM_000368.4(TSC1):c.1041G>A (p.Trp347Ter) http://identifiers.org/clinvar/48736 ^@ NM_000368.4(TSC1):c.1047A>G (p.Pro349=) http://identifiers.org/clinvar/48737 ^@ NM_000368.4(TSC1):c.106+15A>G http://identifiers.org/clinvar/48738 ^@ NM_000368.4(TSC1):c.107-2A>G http://identifiers.org/clinvar/48739 ^@ NM_000368.4(TSC1):c.1092_1105delTGTCCCACCTGATC (p.Pro366Thrfs) http://identifiers.org/clinvar/48740 ^@ NM_000368.4(TSC1):c.1097_1110delCACCTGATCTGTCA (p.Asp368Leufs) http://identifiers.org/clinvar/48741 ^@ NM_000368.4(TSC1):c.109dupC (p.Arg37Profs) http://identifiers.org/clinvar/48742 ^@ NM_000368.4(TSC1):c.1105C>T (p.Leu369=) http://identifiers.org/clinvar/48743 ^@ NM_000368.4(TSC1):c.1110dupA (p.His371Thrfs) http://identifiers.org/clinvar/48744 ^@ NM_000368.4(TSC1):c.1112_1113dupAC (p.Pro372Thrfs) http://identifiers.org/clinvar/48745 ^@ NM_000368.4(TSC1):c.1118dupA (p.Tyr373Terfs) http://identifiers.org/clinvar/48746 ^@ TSC1:c.1142-22_1142-21del http://identifiers.org/clinvar/48747 ^@ NM_000368.4(TSC1):c.1142-33A>G http://identifiers.org/clinvar/48748 ^@ NM_000368.4(TSC1):c.1152delA (p.Gly385Glufs) http://identifiers.org/clinvar/48749 ^@ NM_000368.4(TSC1):c.1196_1209delCACTCTGTCATTCG (p.Pro399Argfs) http://identifiers.org/clinvar/48750 ^@ NM_000368.4(TSC1):c.1203delT (p.His402Ilefs) http://identifiers.org/clinvar/48751 ^@ NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) http://identifiers.org/clinvar/48752 ^@ NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) http://identifiers.org/clinvar/48753 ^@ NM_000368.4(TSC1):c.1257delC (p.Arg420Glyfs) http://identifiers.org/clinvar/48754 ^@ NM_000368.4(TSC1):c.1264-12T>C http://identifiers.org/clinvar/48755 ^@ NM_000368.4(TSC1):c.126A>C (p.Val42=) http://identifiers.org/clinvar/48756 ^@ NM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs) http://identifiers.org/clinvar/48757 ^@ NM_000368.4(TSC1):c.1279delT (p.Ser427Leufs) http://identifiers.org/clinvar/48758 ^@ NM_000368.4(TSC1):c.1303C>T (p.Gln435Ter) http://identifiers.org/clinvar/48759 ^@ NM_000368.4(TSC1):c.130dupA (p.Thr44Asnfs) http://identifiers.org/clinvar/48760 ^@ NM_000368.4(TSC1):c.131_132dupCC (p.Leu45Profs) http://identifiers.org/clinvar/48761 ^@ NM_000368.4(TSC1):c.132dupC (p.Val46Glyfs) http://identifiers.org/clinvar/48762 ^@ NM_000368.4(TSC1):c.1331C>A (p.Ser444Ter) http://identifiers.org/clinvar/48763 ^@ NM_000368.4(TSC1):c.1331C>G (p.Ser444Ter) http://identifiers.org/clinvar/48764 ^@ NM_000368.4(TSC1):c.1333+13C>T http://identifiers.org/clinvar/48765 ^@ NM_000368.4(TSC1):c.1333+5A>G http://identifiers.org/clinvar/48766 ^@ NM_000368.4(TSC1):c.1333dupG (p.Glu445Glyfs) http://identifiers.org/clinvar/48767 ^@ NM_000368.4(TSC1):c.1334-55C>G http://identifiers.org/clinvar/48768 ^@ NM_000368.4(TSC1):c.1335A>G (p.Glu445=) http://identifiers.org/clinvar/48769 ^@ NM_000368.4(TSC1):c.1338delG (p.Glu446Aspfs) http://identifiers.org/clinvar/48770 ^@ NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) http://identifiers.org/clinvar/48771 ^@ NM_000368.4(TSC1):c.1354G>C (p.Gly452Arg) http://identifiers.org/clinvar/48772 ^@ NM_000368.4(TSC1):c.1361_1398del38 (p.Val454Glyfs) http://identifiers.org/clinvar/48773 ^@ NM_000368.4(TSC1):c.1364delC (p.Thr455Ilefs) http://identifiers.org/clinvar/48774 ^@ NM_000368.4(TSC1):c.1366_1367insGA (p.Leu456Argfs) http://identifiers.org/clinvar/48775 ^@ NM_000368.4(TSC1):c.1369delA (p.Ser457Valfs) http://identifiers.org/clinvar/48776 ^@ NM_000368.4(TSC1):c.1371T>C (p.Ser457=) http://identifiers.org/clinvar/48777 ^@ NM_000368.4(TSC1):c.1379delC (p.Pro460Glnfs) http://identifiers.org/clinvar/48778 ^@ NM_000368.4(TSC1):c.1411_1412insT (p.Asp471Valfs) http://identifiers.org/clinvar/48779 ^@ NM_000368.4(TSC1):c.1431_1434delAGAA (p.Glu478Lysfs) http://identifiers.org/clinvar/48780 ^@ NM_000368.4(TSC1):c.1432_1433dupGA (p.Glu479Lysfs) http://identifiers.org/clinvar/48781 ^@ NM_000368.4(TSC1):c.1433A>G (p.Glu478Gly) http://identifiers.org/clinvar/48782 ^@ NM_000368.4(TSC1):c.1438+6G>A http://identifiers.org/clinvar/48783 ^@ NM_000368.4(TSC1):c.1439-2A>G http://identifiers.org/clinvar/48784 ^@ NM_000368.4(TSC1):c.1439-37C>T http://identifiers.org/clinvar/48785 ^@ NM_000368.4(TSC1):c.145delT (p.Tyr49Thrfs) http://identifiers.org/clinvar/48786 ^@ NM_000368.4(TSC1):c.1462G>T (p.Glu488Ter) http://identifiers.org/clinvar/48787 ^@ NM_000368.4(TSC1):c.1470delC (p.Thr491Glnfs) http://identifiers.org/clinvar/48788 ^@ NM_000368.4(TSC1):c.1481dupC (p.Glu495Argfs) http://identifiers.org/clinvar/48789 ^@ NM_000368.4(TSC1):c.148delC (p.Leu50Trpfs) http://identifiers.org/clinvar/48790 ^@ NM_000368.4(TSC1):c.1490_1491delTG (p.Val497Glyfs) http://identifiers.org/clinvar/48791 ^@ NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) http://identifiers.org/clinvar/48792 ^@ NM_000368.4(TSC1):c.1499G>A (p.Arg500Gln) http://identifiers.org/clinvar/48793 ^@ NM_000368.4(TSC1):c.149T>C (p.Leu50Pro) http://identifiers.org/clinvar/48794 ^@ NM_000368.4(TSC1):c.1501G>T (p.Gly501Ter) http://identifiers.org/clinvar/48795 ^@ NM_000368.4(TSC1):c.1515dupT (p.Pro506Serfs) http://identifiers.org/clinvar/48796 ^@ NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) http://identifiers.org/clinvar/48797 ^@ NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) http://identifiers.org/clinvar/48799 ^@ NM_000368.4(TSC1):c.1533delT (p.Leu512Serfs) http://identifiers.org/clinvar/48800 ^@ NM_000368.4(TSC1):c.153A>C (p.Glu51Asp) http://identifiers.org/clinvar/48801 ^@ NM_000368.4(TSC1):c.1542_1543insG (p.Ser515Valfs) http://identifiers.org/clinvar/48802 ^@ NM_000368.4(TSC1):c.1559delA (p.His520Profs) http://identifiers.org/clinvar/48803 ^@ NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) http://identifiers.org/clinvar/48804 ^@ NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) http://identifiers.org/clinvar/48805 ^@ NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs) http://identifiers.org/clinvar/48806 ^@ NM_000368.4(TSC1):c.1615delT (p.Ser539Profs) http://identifiers.org/clinvar/48807 ^@ NM_000368.4(TSC1):c.1630_1646del17 (p.Gly544Alafs) http://identifiers.org/clinvar/48808 ^@ NM_000368.4(TSC1):c.163C>T (p.Gln55Ter) http://identifiers.org/clinvar/48809 ^@ NM_000368.4(TSC1):c.1662delC (p.Ile555Terfs) http://identifiers.org/clinvar/48810 ^@ NM_000368.4(TSC1):c.1669C>T (p.Leu557=) http://identifiers.org/clinvar/48811 ^@ NM_000368.4(TSC1):c.1669delC (p.Leu557Cysfs) http://identifiers.org/clinvar/48812 ^@ NM_000368.4(TSC1):c.1676dupG (p.Cys559Trpfs) http://identifiers.org/clinvar/48813 ^@ NM_000368.4(TSC1):c.1680_1702dup23 (p.Gly568Alafs) http://identifiers.org/clinvar/48814 ^@ NM_000368.4(TSC1):c.1682_1704dup23 (p.Asp569Valfs) http://identifiers.org/clinvar/48815 ^@ NM_000368.4(TSC1):c.1687delG (p.Asp563Metfs) http://identifiers.org/clinvar/48816 ^@ NM_000368.4(TSC1):c.1692_1693delAA (p.Ser565Profs) http://identifiers.org/clinvar/48817 ^@ NM_000368.4(TSC1):c.1697delC (p.Pro566Leufs) http://identifiers.org/clinvar/48818 ^@ NM_000368.4(TSC1):c.1708_1709delAG (p.Arg570Glyfs) http://identifiers.org/clinvar/48819 ^@ NM_000368.4(TSC1):c.1717C>T (p.Gln573Ter) http://identifiers.org/clinvar/48820 ^@ NM_000368.4(TSC1):c.1724C>T (p.Ser575Phe) http://identifiers.org/clinvar/48821 ^@ NM_000368.4(TSC1):c.1726T>C (p.Leu576=) http://identifiers.org/clinvar/48822 ^@ NM_000368.4(TSC1):c.1727_1742del16 (p.Leu576Serfs) http://identifiers.org/clinvar/48823 ^@ NM_000368.4(TSC1):c.1727_1748del22insG (p.Leu576_Pro583delinsCys) http://identifiers.org/clinvar/48824 ^@ NM_000368.4(TSC1):c.1729G>T (p.Glu577Ter) http://identifiers.org/clinvar/48825 ^@ NM_000368.4(TSC1):c.1731G>C (p.Glu577Asp) http://identifiers.org/clinvar/48826 ^@ NM_000368.4(TSC1):c.1736delG (p.Ser579Ilefs) http://identifiers.org/clinvar/48827 ^@ NM_000368.4(TSC1):c.1746dupT (p.Pro583Serfs) http://identifiers.org/clinvar/48828 ^@ NM_000368.4(TSC1):c.1749_1750delCA (p.Pro585Leufs) http://identifiers.org/clinvar/48829 ^@ NM_000368.4(TSC1):c.1757_1765delGTAAAATTC (p.Cys586_Pro589delinsSer) http://identifiers.org/clinvar/48830 ^@ NM_000368.4(TSC1):c.1761A>G (p.Lys587=) http://identifiers.org/clinvar/48831 ^@ NM_000368.4(TSC1):c.1767A>G (p.Pro589=) http://identifiers.org/clinvar/48832 ^@ NM_000368.4(TSC1):c.1773_1774dupGA (p.Thr592Argfs) http://identifiers.org/clinvar/48833 ^@ NM_000368.4(TSC1):c.1776G>T (p.Thr592=) http://identifiers.org/clinvar/48834 ^@ NM_000368.4(TSC1):c.1777A>T (p.Arg593Ter) http://identifiers.org/clinvar/48835 ^@ NM_000368.4(TSC1):c.1788delT (p.Phe596Leufs) http://identifiers.org/clinvar/48836 ^@ NM_000368.4(TSC1):c.1791_1792dupAA (p.Ser598Lysfs) http://identifiers.org/clinvar/48837 ^@ NM_000368.4(TSC1):c.1792dupA (p.Ser598Lysfs) http://identifiers.org/clinvar/48838 ^@ NM_000368.4(TSC1):c.181_189delCTGACCACC (p.Thr62_Leu64del) http://identifiers.org/clinvar/48839 ^@ NM_000368.4(TSC1):c.1823_1824delTT (p.Phe608Terfs) http://identifiers.org/clinvar/48840 ^@ NM_000368.4(TSC1):c.1823_1824dupTT (p.Glu609Leufs) http://identifiers.org/clinvar/48841 ^@ NM_000368.4(TSC1):c.1825G>T (p.Glu609Ter) http://identifiers.org/clinvar/48842 ^@ NM_000368.4(TSC1):c.182T>C (p.Leu61Pro) http://identifiers.org/clinvar/48843 ^@ NM_000368.4(TSC1):c.1839A>G (p.Pro613=) http://identifiers.org/clinvar/48844 ^@ NM_000368.4(TSC1):c.1841delA (p.Lys614Argfs) http://identifiers.org/clinvar/48845 ^@ NM_000368.4(TSC1):c.1851delT (p.His618Ilefs) http://identifiers.org/clinvar/48846 ^@ NM_000368.4(TSC1):c.1857delT (p.Phe619Leufs) http://identifiers.org/clinvar/48847 ^@ NM_000368.4(TSC1):c.1883T>A (p.Leu628Ter) http://identifiers.org/clinvar/48848 ^@ NM_000368.4(TSC1):c.1883T>G (p.Leu628Ter) http://identifiers.org/clinvar/48849 ^@ NM_000368.4(TSC1):c.1886delA (p.Lys629Argfs) http://identifiers.org/clinvar/48850 ^@ NM_000368.4(TSC1):c.1890dupA (p.Ala631Serfs) http://identifiers.org/clinvar/48852 ^@ NM_000368.4(TSC1):c.1907_1908delAG (p.Glu636Glyfs) http://identifiers.org/clinvar/48853 ^@ NM_000368.4(TSC1):c.191_199delTGCAAGAGC (p.Leu64_Pro67delinsSer) http://identifiers.org/clinvar/48854 ^@ NM_000368.4(TSC1):c.1942delG (p.Val648Cysfs) http://identifiers.org/clinvar/48855 ^@ NM_000368.4(TSC1):c.1955_1956delTG (p.Leu652Hisfs) http://identifiers.org/clinvar/48856 ^@ NM_000368.4(TSC1):c.1958_1959delTA (p.Ile653Thrfs) http://identifiers.org/clinvar/48857 ^@ NM_000368.4(TSC1):c.1959dupA (p.Gln654Thrfs) http://identifiers.org/clinvar/48858 ^@ NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) http://identifiers.org/clinvar/48859 ^@ NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter) http://identifiers.org/clinvar/48860 ^@ NM_000368.4(TSC1):c.1968A>C (p.Gly656=) http://identifiers.org/clinvar/48861 ^@ NM_000368.4(TSC1):c.1974C>G (p.Asp658Glu) http://identifiers.org/clinvar/48862 ^@ NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) http://identifiers.org/clinvar/48863 ^@ NM_000368.4(TSC1):c.1997+1G>A http://identifiers.org/clinvar/48864 ^@ NM_000368.4(TSC1):c.1997+1G>C http://identifiers.org/clinvar/48865 ^@ NM_000368.4(TSC1):c.1997+71_1997+72del http://identifiers.org/clinvar/48866 ^@ NM_000368.4(TSC1):c.1998-1G>A http://identifiers.org/clinvar/48867 ^@ NM_000368.4(TSC1):c.1998-1G>C http://identifiers.org/clinvar/48868 ^@ NM_000368.4(TSC1):c.1998-54C>T http://identifiers.org/clinvar/48869 ^@ NM_000368.4(TSC1):c.1998G>A (p.Lys666=) http://identifiers.org/clinvar/48870 ^@ NM_000368.4(TSC1):c.2006T>G (p.Leu669Ter) http://identifiers.org/clinvar/48871 ^@ NM_000368.4(TSC1):c.2022C>T (p.Val674=) http://identifiers.org/clinvar/48872 ^@ NM_000368.4(TSC1):c.2022delC (p.Asp675Thrfs) http://identifiers.org/clinvar/48873 ^@ NM_000368.4(TSC1):c.2023delG (p.Asp675Thrfs) http://identifiers.org/clinvar/48874 ^@ NM_000368.4(TSC1):c.2028G>A (p.Trp676Ter) http://identifiers.org/clinvar/48875 ^@ NM_000368.4(TSC1):c.2030_2040delCCCACTTTGGA (p.Thr677Argfs) http://identifiers.org/clinvar/48876 ^@ NM_000368.4(TSC1):c.2039G>A (p.Gly680Glu) http://identifiers.org/clinvar/48877 ^@ NM_000368.4(TSC1):c.203A>G (p.His68Arg) http://identifiers.org/clinvar/48878 ^@ NM_000368.4(TSC1):c.2041+2T>A http://identifiers.org/clinvar/48879 ^@ NM_000368.4(TSC1):c.2041+2T>C http://identifiers.org/clinvar/48880 ^@ NM_000368.4(TSC1):c.2041G>A (p.Gly681Ser) http://identifiers.org/clinvar/48881 ^@ NM_000368.4(TSC1):c.2042-2A>G http://identifiers.org/clinvar/48882 ^@ NM_000368.4(TSC1):c.2042-5A>G http://identifiers.org/clinvar/48883 ^@ NM_000368.4(TSC1):c.2054C>A (p.Ser685Ter) http://identifiers.org/clinvar/48884 ^@ NM_000368.4(TSC1):c.2069_2074delCCCTCCinsACACTT (p.Thr690_Arg692delinsAsnThrTer) http://identifiers.org/clinvar/48885 ^@ NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) http://identifiers.org/clinvar/48886 ^@ NM_000368.4(TSC1):c.2082delG (p.Gln694Hisfs) http://identifiers.org/clinvar/48887 ^@ NM_000368.4(TSC1):c.2090delT (p.Leu697Tyrfs) http://identifiers.org/clinvar/48888 ^@ NM_000368.4(TSC1):c.2094delG (p.His699Thrfs) http://identifiers.org/clinvar/48889 ^@ NM_000368.4(TSC1):c.2097dupC (p.Asn700Glnfs) http://identifiers.org/clinvar/48890 ^@ NM_000368.4(TSC1):c.210+18A>G http://identifiers.org/clinvar/48891 ^@ NM_000368.4(TSC1):c.210+1G>A http://identifiers.org/clinvar/48892 ^@ NM_000368.4(TSC1):c.210+33G>A http://identifiers.org/clinvar/48893 ^@ NM_000368.4(TSC1):c.2101_2102delCA (p.Gln701Valfs) http://identifiers.org/clinvar/48894 ^@ NM_000368.4(TSC1):c.2101delC (p.Gln701Serfs) http://identifiers.org/clinvar/48896 ^@ NM_000368.4(TSC1):c.2103G>T (p.Gln701His) http://identifiers.org/clinvar/48897 ^@ NM_000368.4(TSC1):c.2103_2106delGTTA (p.Gln701Hisfs) http://identifiers.org/clinvar/48898 ^@ NM_000368.4(TSC1):c.2103_2109dupGTTACTC (p.Tyr704Valfs) http://identifiers.org/clinvar/48899 ^@ NM_000368.4(TSC1):c.2104_2105insTAGTT (p.Leu703Valfs) http://identifiers.org/clinvar/48900 ^@ NM_000368.4(TSC1):c.2109_2110delCT (p.Tyr704Terfs) http://identifiers.org/clinvar/48901 ^@ NM_000368.4(TSC1):c.211-16T>C http://identifiers.org/clinvar/48902 ^@ NM_000368.4(TSC1):c.211-1G>A http://identifiers.org/clinvar/48903 ^@ NM_000368.4(TSC1):c.211-2A>C http://identifiers.org/clinvar/48904 ^@ NM_000368.4(TSC1):c.2110dupT (p.Tyr704Leufs) http://identifiers.org/clinvar/48905 ^@ NM_000368.4(TSC1):c.2111_2112delAT (p.Tyr704Terfs) http://identifiers.org/clinvar/48906 ^@ NM_000368.4(TSC1):c.2112T>A (p.Tyr704Ter) http://identifiers.org/clinvar/48907 ^@ NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter) http://identifiers.org/clinvar/48909 ^@ NM_000368.4(TSC1):c.2135_2139delATGCC (p.His712Profs) http://identifiers.org/clinvar/48910 ^@ NM_000368.4(TSC1):c.2145delG (p.Asn716Thrfs) http://identifiers.org/clinvar/48911 ^@ NM_000368.4(TSC1):c.2151dupG (p.Arg718Alafs) http://identifiers.org/clinvar/48912 ^@ NM_000368.4(TSC1):c.215T>C (p.Leu72Pro) http://identifiers.org/clinvar/48913 ^@ NM_000368.4(TSC1):c.2169delG (p.Ile724Serfs) http://identifiers.org/clinvar/48914 ^@ NM_000368.4(TSC1):c.2173_2176delAAAG (p.Lys725Glnfs) http://identifiers.org/clinvar/48915 ^@ NM_000368.4(TSC1):c.2175dupA (p.Ala726Serfs) http://identifiers.org/clinvar/48916 ^@ NM_000368.4(TSC1):c.2177C>A (p.Ala726Glu) http://identifiers.org/clinvar/48917 ^@ NM_000368.4(TSC1):c.2191delG (p.Glu731Asnfs) http://identifiers.org/clinvar/48918 ^@ NM_000368.4(TSC1):c.2208+23G>A http://identifiers.org/clinvar/48919 ^@ NM_000368.4(TSC1):c.2209-35A>G http://identifiers.org/clinvar/48920 ^@ NM_000368.4(TSC1):c.2209-9C>T http://identifiers.org/clinvar/48921 ^@ NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter) http://identifiers.org/clinvar/48922 ^@ NM_000368.4(TSC1):c.2249G>A (p.Trp750Ter) http://identifiers.org/clinvar/48923 ^@ NM_000368.4(TSC1):c.2250G>A (p.Trp750Ter) http://identifiers.org/clinvar/48924 ^@ NM_000368.4(TSC1):c.2260C>T (p.Leu754=) http://identifiers.org/clinvar/48925 ^@ NM_000368.4(TSC1):c.2268_2271delAGAA (p.Lys756Asnfs) http://identifiers.org/clinvar/48926 ^@ NM_000368.4(TSC1):c.2279_2294del16 (p.Tyr761Serfs) http://identifiers.org/clinvar/48927 ^@ NM_000368.4(TSC1):c.227T>A (p.Ile76Asn) http://identifiers.org/clinvar/48928 ^@ NM_000368.4(TSC1):c.2281_2284dupTACA (p.Asn762Ilefs) http://identifiers.org/clinvar/48929 ^@ NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter) http://identifiers.org/clinvar/48930 ^@ NM_000368.4(TSC1):c.2283C>G (p.Tyr761Ter) http://identifiers.org/clinvar/48931 ^@ NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) http://identifiers.org/clinvar/48932 ^@ NM_000368.4(TSC1):c.2287C>T (p.Gln763Ter) http://identifiers.org/clinvar/48933 ^@ NM_000368.4(TSC1):c.2291delT (p.Leu764Profs) http://identifiers.org/clinvar/48934 ^@ NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter) http://identifiers.org/clinvar/48935 ^@ NM_000368.4(TSC1):c.2298_2320del23 (p.Gln767Alafs) http://identifiers.org/clinvar/48936 ^@ NM_000368.4(TSC1):c.2299C>T (p.Gln767Ter) http://identifiers.org/clinvar/48937 ^@ NM_000368.4(TSC1):c.2317delA (p.Thr773Profs) http://identifiers.org/clinvar/48938 ^@ NM_000368.4(TSC1):c.2319delC (p.Lys774Serfs) http://identifiers.org/clinvar/48939 ^@ NM_000368.4(TSC1):c.2328_2329delCA (p.His776Glnfs) http://identifiers.org/clinvar/48940 ^@ NM_000368.4(TSC1):c.2332C>T (p.Gln778Ter) http://identifiers.org/clinvar/48941 ^@ NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) http://identifiers.org/clinvar/48942 ^@ NM_000368.4(TSC1):c.2347C>T (p.Gln783Ter) http://identifiers.org/clinvar/48943 ^@ NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) http://identifiers.org/clinvar/48944 ^@ NM_000368.4(TSC1):c.2357delG (p.Arg786Glnfs) http://identifiers.org/clinvar/48945 ^@ NM_000368.4(TSC1):c.2360_2364delAGGAA (p.Glu787Valfs) http://identifiers.org/clinvar/48946 ^@ NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter) http://identifiers.org/clinvar/48947 ^@ NM_000368.4(TSC1):c.2364delA (p.Glu788Aspfs) http://identifiers.org/clinvar/48948 ^@ NM_000368.4(TSC1):c.2392-35T>C http://identifiers.org/clinvar/48949 ^@ NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) http://identifiers.org/clinvar/48950 ^@ NM_000368.4(TSC1):c.2407delT (p.Cys803Alafs) http://identifiers.org/clinvar/48951 ^@ NM_000368.4(TSC1):c.2411_2424delGGAACATGATTGCG (p.Asn805Alafs) http://identifiers.org/clinvar/48952 ^@ NM_000368.4(TSC1):c.2420T>C (p.Ile807Thr) http://identifiers.org/clinvar/48953 ^@ NM_000368.4(TSC1):c.2421dupT (p.Ala808Cysfs) http://identifiers.org/clinvar/48954 ^@ NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) http://identifiers.org/clinvar/48955 ^@ NM_000368.4(TSC1):c.2456_2459delACAA (p.Asn819Argfs) http://identifiers.org/clinvar/48956 ^@ NM_000368.4(TSC1):c.245A>C (p.Lys82Thr) http://identifiers.org/clinvar/48957 ^@ NM_000368.4(TSC1):c.2465_2466delGT (p.Cys822Serfs) http://identifiers.org/clinvar/48958 ^@ NM_000368.4(TSC1):c.2468_2469insG (p.His823Glnfs) http://identifiers.org/clinvar/48959 ^@ NM_000368.4(TSC1):c.2468delA (p.His823Profs) http://identifiers.org/clinvar/48960 ^@ NM_000368.4(TSC1):c.2470_2471delAC (p.Thr824Terfs) http://identifiers.org/clinvar/48961 ^@ NM_000368.4(TSC1):c.2471_2472delCT (p.Thr824Argfs) http://identifiers.org/clinvar/48962 ^@ NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) http://identifiers.org/clinvar/48963 ^@ NM_000368.4(TSC1):c.2497C>T (p.Gln833Ter) http://identifiers.org/clinvar/48964 ^@ NM_000368.4(TSC1):c.2501dupA (p.Leu835Alafs) http://identifiers.org/clinvar/48965 ^@ NM_000368.4(TSC1):c.2503-1G>T http://identifiers.org/clinvar/48966 ^@ NM_000368.4(TSC1):c.2503-21T>C http://identifiers.org/clinvar/48967 ^@ NM_000368.4(TSC1):c.2503-2A>G http://identifiers.org/clinvar/48968 ^@ NM_000368.4(TSC1):c.2503-35T>C http://identifiers.org/clinvar/48969 ^@ NM_000368.4(TSC1):c.2507C>G (p.Ser836Ter) http://identifiers.org/clinvar/48971 ^@ NM_000368.3(TSC1):c.2509_2512delAACA (p.Asn837Valfs) http://identifiers.org/clinvar/48972 ^@ NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) http://identifiers.org/clinvar/48973 ^@ NM_000368.4(TSC1):c.2510dupA (p.Asn837Lysfs) http://identifiers.org/clinvar/48974 ^@ NM_000368.4(TSC1):c.2528_2534delAGCAGAT (p.Gln843Argfs) http://identifiers.org/clinvar/48975 ^@ NM_000368.4(TSC1):c.252dupC (p.Thr85Hisfs) http://identifiers.org/clinvar/48976 ^@ NM_000368.4(TSC1):c.2559_2562delGGTT (p.Leu853Phefs) http://identifiers.org/clinvar/48977 ^@ NM_000368.4(TSC1):c.2569delG (p.Glu857Argfs) http://identifiers.org/clinvar/48978 ^@ NM_000368.4(TSC1):c.2569dupG (p.Glu857Glyfs) http://identifiers.org/clinvar/48979 ^@ NM_000368.4(TSC1):c.2595delA (p.Gln865Hisfs) http://identifiers.org/clinvar/48980 ^@ NM_000368.4(TSC1):c.260_261insGA (p.Ser88Asnfs) http://identifiers.org/clinvar/48981 ^@ NM_000368.4(TSC1):c.2625+1G>A http://identifiers.org/clinvar/48982 ^@ NM_000368.4(TSC1):c.2626-2A>G http://identifiers.org/clinvar/48983 ^@ NM_000368.4(TSC1):c.2626-4delT http://identifiers.org/clinvar/48984 ^@ NM_000368.4(TSC1):c.2646C>T (p.Ala882=) http://identifiers.org/clinvar/48985 ^@ NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) http://identifiers.org/clinvar/48986 ^@ NM_000368.4(TSC1):c.2650dupT (p.Tyr884Leufs) http://identifiers.org/clinvar/48987 ^@ NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) http://identifiers.org/clinvar/48988 ^@ NM_000368.4(TSC1):c.2671_2672dupAA (p.Asn891Lysfs) http://identifiers.org/clinvar/48989 ^@ NM_000368.4(TSC1):c.2672dupA (p.Asn891Lysfs) http://identifiers.org/clinvar/48991 ^@ NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) http://identifiers.org/clinvar/48992 ^@ NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) http://identifiers.org/clinvar/48993 ^@ NM_000368.4(TSC1):c.2694delG (p.Thr899Leufs) http://identifiers.org/clinvar/48994 ^@ NM_000368.4(TSC1):c.2699delA (p.Gln900Argfs) http://identifiers.org/clinvar/48995 ^@ NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) http://identifiers.org/clinvar/48996 ^@ NM_000368.4(TSC1):c.271_272delTC (p.Ser91Valfs) http://identifiers.org/clinvar/48997 ^@ NM_000368.4(TSC1):c.272C>A (p.Ser91Ter) http://identifiers.org/clinvar/48998 ^@ NM_000368.4(TSC1):c.276dupA (p.Leu93Thrfs) http://identifiers.org/clinvar/48999 ^@ NM_000368.4(TSC1):c.2781G>A (p.Lys927=) http://identifiers.org/clinvar/49000 ^@ NM_000368.4(TSC1):c.2786_2787delAT (p.Tyr929Serfs) http://identifiers.org/clinvar/49001 ^@ NM_000368.4(TSC1):c.278T>G (p.Leu93Arg) http://identifiers.org/clinvar/49002 ^@ NM_000368.4(TSC1):c.2806C>T (p.Gln936Ter) http://identifiers.org/clinvar/49003 ^@ NM_000368.4(TSC1):c.2811_2813+2del5 http://identifiers.org/clinvar/49004 ^@ NM_000368.4(TSC1):c.2813+3_2813+21del19 http://identifiers.org/clinvar/49005 ^@ NM_000368.4(TSC1):c.2813+51A>G http://identifiers.org/clinvar/49006 ^@ NM_000368.4(TSC1):c.2829C>T (p.Ala943=) http://identifiers.org/clinvar/49007 ^@ NM_000368.4(TSC1):c.2829_2830insGGCCT (p.Ala944Glyfs) http://identifiers.org/clinvar/49008 ^@ NM_000368.4(TSC1):c.2865C>T (p.Thr955=) http://identifiers.org/clinvar/49009 ^@ NM_000368.4(TSC1):c.2976-43G>C http://identifiers.org/clinvar/49010 ^@ NM_000368.4(TSC1):c.2976-54G>A http://identifiers.org/clinvar/49011 ^@ NM_000368.4(TSC1):c.3030G>T (p.Glu1010Asp) http://identifiers.org/clinvar/49012 ^@ NM_000368.4(TSC1):c.308G>A (p.Trp103Ter) http://identifiers.org/clinvar/49013 ^@ NM_000368.4(TSC1):c.309G>A (p.Trp103Ter) http://identifiers.org/clinvar/49014 ^@ NM_000368.4(TSC1):c.3124_3129dupAGCAGC (p.Ser1043_Glu1044insSerSer) http://identifiers.org/clinvar/49015 ^@ NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) http://identifiers.org/clinvar/49016 ^@ NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) http://identifiers.org/clinvar/49017 ^@ NM_000368.4(TSC1):c.3216C>T (p.Ala1072=) http://identifiers.org/clinvar/49018 ^@ NM_000368.4(TSC1):c.3231T>C (p.Thr1077=) http://identifiers.org/clinvar/49019 ^@ NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) http://identifiers.org/clinvar/49020 ^@ NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) http://identifiers.org/clinvar/49021 ^@ NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) http://identifiers.org/clinvar/49022 ^@ NM_000368.4(TSC1):c.3321C>T (p.Asp1107=) http://identifiers.org/clinvar/49023 ^@ NM_000368.4(TSC1):c.3322G>A (p.Gly1108Ser) http://identifiers.org/clinvar/49024 ^@ NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) http://identifiers.org/clinvar/49025 ^@ NM_000368.4(TSC1):c.334_335dupCT (p.Leu113Phefs) http://identifiers.org/clinvar/49026 ^@ NM_000368.4(TSC1):c.338delT (p.Leu113Cysfs) http://identifiers.org/clinvar/49027 ^@ NM_000368.4(TSC1):c.350T>C (p.Leu117Pro) http://identifiers.org/clinvar/49028 ^@ NM_000368.4(TSC1):c.362A>G (p.Lys121Arg) http://identifiers.org/clinvar/49029 ^@ NM_000368.4(TSC1):c.363+1G>A http://identifiers.org/clinvar/49030 ^@ NM_000368.4(TSC1):c.363+1G>T http://identifiers.org/clinvar/49031 ^@ NM_000368.4(TSC1):c.363+1dupG http://identifiers.org/clinvar/49032 ^@ NM_000368.4(TSC1):c.363+47T>C http://identifiers.org/clinvar/49033 ^@ NM_000368.4(TSC1):c.363+5G>A http://identifiers.org/clinvar/49034 ^@ NM_000368.4(TSC1):c.363G>A (p.Lys121=) http://identifiers.org/clinvar/49035 ^@ NM_000368.4(TSC1):c.364-1G>C http://identifiers.org/clinvar/49036 ^@ NM_000368.4(TSC1):c.372dupT (p.Asp125Terfs) http://identifiers.org/clinvar/49038 ^@ NM_000368.4(TSC1):c.381_383delTGT (p.Val128del) http://identifiers.org/clinvar/49039 ^@ NM_000368.4(TSC1):c.395_406delGCGTCTTGGTGTinsCA (p.Gly132Alafs) http://identifiers.org/clinvar/49040 ^@ NM_000368.4(TSC1):c.397G>T (p.Val133Phe) http://identifiers.org/clinvar/49041 ^@ NM_000368.4(TSC1):c.433C>T (p.Gln145Ter) http://identifiers.org/clinvar/49042 ^@ NM_000368.4(TSC1):c.433_434delCA (p.Gln145Valfs) http://identifiers.org/clinvar/49043 ^@ NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) http://identifiers.org/clinvar/49044 ^@ NM_000368.4(TSC1):c.473T>G (p.Phe158Cys) http://identifiers.org/clinvar/49045 ^@ NM_000368.4(TSC1):c.489A>T (p.Ser163=) http://identifiers.org/clinvar/49046 ^@ NM_000368.4(TSC1):c.491G>A (p.Trp164Ter) http://identifiers.org/clinvar/49047 ^@ NM_000368.4(TSC1):c.504delA (p.Lys168Asnfs) http://identifiers.org/clinvar/49048 ^@ NM_000368.4(TSC1):c.508+1G>C http://identifiers.org/clinvar/49049 ^@ NM_000368.4(TSC1):c.509-15G>A http://identifiers.org/clinvar/49050 ^@ NM_000368.4(TSC1):c.520G>T (p.Glu174Ter) http://identifiers.org/clinvar/49051 ^@ NM_000368.4(TSC1):c.524dupT (p.Tyr176Leufs) http://identifiers.org/clinvar/49052 ^@ NM_000368.4(TSC1):c.526_527delTA (p.Tyr176Serfs) http://identifiers.org/clinvar/49053 ^@ NM_000368.4(TSC1):c.532G>A (p.Val178Ile) http://identifiers.org/clinvar/49054 ^@ NM_000368.4(TSC1):c.552G>C (p.Val184=) http://identifiers.org/clinvar/49055 ^@ NM_000368.4(TSC1):c.555C>T (p.Tyr185=) http://identifiers.org/clinvar/49056 ^@ NM_000368.4(TSC1):c.563_564delTT (p.Phe188Serfs) http://identifiers.org/clinvar/49057 ^@ NM_000368.4(TSC1):c.568C>T (p.Arg190Cys) http://identifiers.org/clinvar/49058 ^@ NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) http://identifiers.org/clinvar/49059 ^@ NM_000368.4(TSC1):c.569delG (p.Arg190Profs) http://identifiers.org/clinvar/49060 ^@ NM_000368.4(TSC1):c.572T>A (p.Leu191His) http://identifiers.org/clinvar/49061 ^@ NM_000368.4(TSC1):c.572T>G (p.Leu191Arg) http://identifiers.org/clinvar/49062 ^@ NM_000368.4(TSC1):c.575delA (p.Tyr192Leufs) http://identifiers.org/clinvar/49063 ^@ NM_000368.4(TSC1):c.576T>G (p.Tyr192Ter) http://identifiers.org/clinvar/49064 ^@ NM_000368.4(TSC1):c.585C>A (p.Tyr195Ter) http://identifiers.org/clinvar/49065 ^@ NM_000368.4(TSC1):c.593_595delACT (p.Asn198_Phe199delinsIle) http://identifiers.org/clinvar/49066 ^@ NM_000368.4(TSC1):c.597_603delCGTCTCC (p.Val200Phefs) http://identifiers.org/clinvar/49067 ^@ NM_000368.4(TSC1):c.598G>A (p.Val200Ile) http://identifiers.org/clinvar/49068 ^@ NM_000368.4(TSC1):c.599dupT (p.Ser201Leufs) http://identifiers.org/clinvar/49069 ^@ NM_000368.4(TSC1):c.602_604delCCT (p.Ser201del) http://identifiers.org/clinvar/49070 ^@ NM_000368.4(TSC1):c.607_608dupTT (p.Leu203Phefs) http://identifiers.org/clinvar/49071 ^@ NM_000368.4(TSC1):c.615T>C (p.Ser205=) http://identifiers.org/clinvar/49072 ^@ NM_000368.4(TSC1):c.618T>C (p.His206=) http://identifiers.org/clinvar/49073 ^@ NM_000368.4(TSC1):c.647T>C (p.Phe216Ser) http://identifiers.org/clinvar/49074 ^@ NM_000368.4(TSC1):c.647_648delTT (p.Phe216Terfs) http://identifiers.org/clinvar/49075 ^@ NM_000368.4(TSC1):c.654dupA (p.Val219Serfs) http://identifiers.org/clinvar/49076 ^@ NM_000368.4(TSC1):c.663+1G>A http://identifiers.org/clinvar/49077 ^@ NM_000368.4(TSC1):c.663+38_663+39insC http://identifiers.org/clinvar/49078 ^@ NM_000368.4(TSC1):c.663+7T>A http://identifiers.org/clinvar/49079 ^@ NM_000368.4(TSC1):c.664-15A>G http://identifiers.org/clinvar/49080 ^@ NM_000368.4(TSC1):c.664-1G>A http://identifiers.org/clinvar/49081 ^@ NM_000368.4(TSC1):c.664-1G>C http://identifiers.org/clinvar/49082 ^@ NM_000368.4(TSC1):c.665delC (p.Pro222Glnfs) http://identifiers.org/clinvar/49083 ^@ NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/49084 ^@ NM_000368.4(TSC1):c.694G>T (p.Glu232Ter) http://identifiers.org/clinvar/49085 ^@ NM_000368.4(TSC1):c.694delG (p.Glu232Asnfs) http://identifiers.org/clinvar/49086 ^@ NM_000368.4(TSC1):c.709dupT (p.Ser237Phefs) http://identifiers.org/clinvar/49087 ^@ NM_000368.4(TSC1):c.70delG (p.Asp24Thrfs) http://identifiers.org/clinvar/49088 ^@ NM_000368.4(TSC1):c.720_721insA (p.Glu241Argfs) http://identifiers.org/clinvar/49089 ^@ NM_000368.4(TSC1):c.724C>T (p.Leu242=) http://identifiers.org/clinvar/49090 ^@ NM_000368.4(TSC1):c.732delT (p.Arg245Glufs) http://identifiers.org/clinvar/49091 ^@ NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) http://identifiers.org/clinvar/49092 ^@ NM_000368.4(TSC1):c.737+1G>A http://identifiers.org/clinvar/49093 ^@ NM_000368.4(TSC1):c.737+3A>G http://identifiers.org/clinvar/49094 ^@ NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) http://identifiers.org/clinvar/49095 ^@ NM_000368.4(TSC1):c.737G>C (p.Arg246Thr) http://identifiers.org/clinvar/49097 ^@ NM_000368.4(TSC1):c.738-2A>G http://identifiers.org/clinvar/49098 ^@ NM_000368.4(TSC1):c.738G>A (p.Arg246=) http://identifiers.org/clinvar/49099 ^@ NM_000368.4(TSC1):c.742A>T (p.Lys248Ter) http://identifiers.org/clinvar/49100 ^@ NM_000368.4(TSC1):c.745A>T (p.Arg249Ter) http://identifiers.org/clinvar/49101 ^@ NM_000368.4(TSC1):c.745delA (p.Arg249Aspfs) http://identifiers.org/clinvar/49102 ^@ NM_000368.4(TSC1):c.749T>G (p.Leu250Ter) http://identifiers.org/clinvar/49103 ^@ NM_000368.4(TSC1):c.749delT (p.Leu250Terfs) http://identifiers.org/clinvar/49104 ^@ NM_000368.4(TSC1):c.749dupT (p.Leu250Phefs) http://identifiers.org/clinvar/49105 ^@ NM_000368.4(TSC1):c.771delC (p.Ile257Metfs) http://identifiers.org/clinvar/49106 ^@ NM_000368.4(TSC1):c.772G>T (p.Glu258Ter) http://identifiers.org/clinvar/49107 ^@ NM_000368.4(TSC1):c.812_813delAT (p.Tyr271Terfs) http://identifiers.org/clinvar/49108 ^@ NM_000368.4(TSC1):c.813T>A (p.Tyr271Ter) http://identifiers.org/clinvar/49109 ^@ NM_000368.4(TSC1):c.824_825dupAT (p.Ser276Ilefs) http://identifiers.org/clinvar/49110 ^@ NM_000368.4(TSC1):c.825T>G (p.Tyr275Ter) http://identifiers.org/clinvar/49112 ^@ NM_000368.4(TSC1):c.831_832delGT (p.His279Profs) http://identifiers.org/clinvar/49113 ^@ NM_000368.4(TSC1):c.834_835delTC (p.His279Profs) http://identifiers.org/clinvar/49114 ^@ NM_000368.4(TSC1):c.838C>T (p.Gln280Ter) http://identifiers.org/clinvar/49115 ^@ NM_000368.4(TSC1):c.845C>A (p.Ser282Ter) http://identifiers.org/clinvar/49116 ^@ NM_000368.4(TSC1):c.846dupA (p.Ala283Serfs) http://identifiers.org/clinvar/49117 ^@ NM_000368.4(TSC1):c.891T>A (p.Tyr297Ter) http://identifiers.org/clinvar/49118 ^@ NM_000368.4(TSC1):c.891T>G (p.Tyr297Ter) http://identifiers.org/clinvar/49119 ^@ NM_000368.4(TSC1):c.901C>T (p.Gln301Ter) http://identifiers.org/clinvar/49120 ^@ NM_000368.4(TSC1):c.901_902delCA (p.Gln301Glufs) http://identifiers.org/clinvar/49121 ^@ NM_000368.4(TSC1):c.901_913+1del http://identifiers.org/clinvar/49122 ^@ NM_000368.4(TSC1):c.912T>G (p.Tyr304Ter) http://identifiers.org/clinvar/49123 ^@ NM_000368.4(TSC1):c.912_913+5del http://identifiers.org/clinvar/49124 ^@ NM_000368.4(TSC1):c.913+1G>A http://identifiers.org/clinvar/49125 ^@ NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) http://identifiers.org/clinvar/49126 ^@ NM_000368.4(TSC1):c.913G>T (p.Gly305Trp) http://identifiers.org/clinvar/49127 ^@ NM_000368.4(TSC1):c.914-18T>C http://identifiers.org/clinvar/49128 ^@ NM_000368.4(TSC1):c.936C>A (p.Tyr312Ter) http://identifiers.org/clinvar/49129 ^@ NM_000368.4(TSC1):c.972G>A (p.Gly324=) http://identifiers.org/clinvar/49130 ^@ NM_000368.4(TSC1):c.973C>T (p.Gln325Ter) http://identifiers.org/clinvar/49131 ^@ NM_000368.4(TSC1):c.983dupA (p.Thr329Aspfs) http://identifiers.org/clinvar/49132 ^@ NM_000368.4(TSC1):c.988_989delCT (p.Leu330Glufs) http://identifiers.org/clinvar/49133 ^@ NM_000368.4(TSC1):c.988dupC (p.Leu330Profs) http://identifiers.org/clinvar/49134 ^@ NM_000368.4(TSC1):c.989_990delTG (p.Leu330Glnfs) http://identifiers.org/clinvar/49135 ^@ NM_000368.4(TSC1):c.989dupT (p.Ser331Glufs) http://identifiers.org/clinvar/49136 ^@ NM_000368.4(TSC1):c.994_995insA (p.Ser332Tyrfs) http://identifiers.org/clinvar/49137 ^@ NM_000548.4(TSC2):c.1029C>T (p.Thr343=) http://identifiers.org/clinvar/49138 ^@ NM_000548.4(TSC2):c.1034T>G (p.Leu345Arg) http://identifiers.org/clinvar/49139 ^@ NM_000548.4(TSC2):c.103C>T (p.Gln35Ter) http://identifiers.org/clinvar/49140 ^@ NM_000548.4(TSC2):c.1085T>C (p.Leu362Pro) http://identifiers.org/clinvar/49141 ^@ NM_000548.4(TSC2):c.1110G>A (p.Gln370=) http://identifiers.org/clinvar/49142 ^@ NM_000548.4(TSC2):c.1111C>T (p.Gln371Ter) http://identifiers.org/clinvar/49143 ^@ NM_000548.4(TSC2):c.1120-93T>C http://identifiers.org/clinvar/49144 ^@ NM_000548.4(TSC2):c.1167delC (p.Thr390Argfs) http://identifiers.org/clinvar/49145 ^@ NM_000548.4(TSC2):c.1220_1240del21 (p.Tyr407_Arg413del) http://identifiers.org/clinvar/49146 ^@ NM_000548.4(TSC2):c.1224dupT (p.Glu409Terfs) http://identifiers.org/clinvar/49147 ^@ NM_000548.4(TSC2):c.1226_1230delAACTG (p.Glu409Glyfs) http://identifiers.org/clinvar/49148 ^@ NM_000548.4(TSC2):c.1258-3C>G http://identifiers.org/clinvar/49149 ^@ NM_000548.4(TSC2):c.1266_1267delCC (p.Leu423Profs) http://identifiers.org/clinvar/49150 ^@ NM_000548.4(TSC2):c.1276C>T (p.Leu426=) http://identifiers.org/clinvar/49151 ^@ NM_000548.4(TSC2):c.133_136delCTGA (p.Leu45Glufs) http://identifiers.org/clinvar/49152 ^@ NM_000548.4(TSC2):c.1347G>C (p.Met449Ile) http://identifiers.org/clinvar/49153 ^@ NM_000548.4(TSC2):c.1372C>T (p.Arg458Ter) http://identifiers.org/clinvar/49154 ^@ NM_000548.4(TSC2):c.1377C>T (p.Gly459=) http://identifiers.org/clinvar/49155 ^@ NM_000548.4(TSC2):c.138+2T>C http://identifiers.org/clinvar/49156 ^@ NM_000548.4(TSC2):c.139_140delGA (p.Glu47Thrfs) http://identifiers.org/clinvar/49157 ^@ NM_000548.4(TSC2):c.141A>T (p.Glu47Asp) http://identifiers.org/clinvar/49158 ^@ NM_000548.4(TSC2):c.1440T>G (p.Tyr480Ter) http://identifiers.org/clinvar/49159 ^@ NM_000548.4(TSC2):c.1468A>G (p.Ile490Val) http://identifiers.org/clinvar/49160 ^@ NM_000548.4(TSC2):c.1472C>A (p.Ser491Ter) http://identifiers.org/clinvar/49161 ^@ NM_000548.4(TSC2):c.1477C>G (p.Leu493Val) http://identifiers.org/clinvar/49162 ^@ NM_000548.4(TSC2):c.1578C>T (p.Ser526=) http://identifiers.org/clinvar/49163 ^@ NM_000548.4(TSC2):c.1593C>T (p.Ile531=) http://identifiers.org/clinvar/49164 ^@ NM_000548.4(TSC2):c.1599+16C>T http://identifiers.org/clinvar/49165 ^@ NM_000548.4(TSC2):c.1607C>T (p.Ala536Val) http://identifiers.org/clinvar/49166 ^@ NM_000548.4(TSC2):c.1611C>T (p.Arg537=) http://identifiers.org/clinvar/49167 ^@ NM_000548.4(TSC2):c.1616_1628delTCTCCCCACCCCC (p.Leu539Argfs) http://identifiers.org/clinvar/49168 ^@ NM_000548.4(TSC2):c.1642_1643delAG (p.Arg548Glyfs) http://identifiers.org/clinvar/49169 ^@ NM_000548.4(TSC2):c.1716+5delG http://identifiers.org/clinvar/49170 ^@ NM_000548.4(TSC2):c.1717-23T>G http://identifiers.org/clinvar/49171 ^@ NM_000548.4(TSC2):c.1717-27G>A http://identifiers.org/clinvar/49172 ^@ NM_000548.4(TSC2):c.1717-28C>T http://identifiers.org/clinvar/49173 ^@ NM_000548.4(TSC2):c.1778A>G (p.His593Arg) http://identifiers.org/clinvar/49174 ^@ NM_000548.4(TSC2):c.1783C>T (p.Gln595Ter) http://identifiers.org/clinvar/49175 ^@ NM_000548.4(TSC2):c.1792T>C (p.Tyr598His) http://identifiers.org/clinvar/49176 ^@ NM_000548.4(TSC2):c.1826_1828dupGCA (p.Ser609_Ile610insSer) http://identifiers.org/clinvar/49177 ^@ NM_000548.4(TSC2):c.1831C>G (p.Arg611Gly) http://identifiers.org/clinvar/49178 ^@ NM_000548.4(TSC2):c.1839+1G>A http://identifiers.org/clinvar/49179 ^@ NM_000548.4(TSC2):c.1839+1G>C http://identifiers.org/clinvar/49180 ^@ NM_000548.4(TSC2):c.1860G>A (p.Leu620=) http://identifiers.org/clinvar/49181 ^@ NM_000548.4(TSC2):c.1909_1912delGTCG (p.Val637Cysfs) http://identifiers.org/clinvar/49182 ^@ NM_000548.4(TSC2):c.1927dupT (p.Tyr643Leufs) http://identifiers.org/clinvar/49183 ^@ NM_000548.4(TSC2):c.1969A>T (p.Lys657Ter) http://identifiers.org/clinvar/49184 ^@ NM_000548.4(TSC2):c.196G>T (p.Glu66Ter) http://identifiers.org/clinvar/49185 ^@ NM_000548.4(TSC2):c.1973_1975delAGA (p.Lys658del) http://identifiers.org/clinvar/49186 ^@ NM_000548.4(TSC2):c.1987delC (p.Leu663Phefs) http://identifiers.org/clinvar/49187 ^@ NM_000548.4(TSC2):c.2061_2067delCCTGCTC (p.Leu688Serfs) http://identifiers.org/clinvar/49188 ^@ NM_000548.4(TSC2):c.2074delG (p.Val692Serfs) http://identifiers.org/clinvar/49189 ^@ NM_000548.4(TSC2):c.2078T>C (p.Leu693Pro) http://identifiers.org/clinvar/49190 ^@ NM_000548.4(TSC2):c.2081_2083delTGC (p.Leu694del) http://identifiers.org/clinvar/49191 ^@ NM_000548.4(TSC2):c.2095C>T (p.Gln699Ter) http://identifiers.org/clinvar/49192 ^@ NM_000548.4(TSC2):c.2097+12C>T http://identifiers.org/clinvar/49193 ^@ NM_000548.4(TSC2):c.2097+35G>A http://identifiers.org/clinvar/49194 ^@ NM_000548.4(TSC2):c.20A>G (p.Lys7Arg) http://identifiers.org/clinvar/49195 ^@ NM_000548.4(TSC2):c.2145_2158dupGTCCCTGCGCTATA (p.Lys720Serfs) http://identifiers.org/clinvar/49196 ^@ NM_000548.4(TSC2):c.2182delT (p.Cys728Alafs) http://identifiers.org/clinvar/49197 ^@ NM_000548.4(TSC2):c.2221-1G>C http://identifiers.org/clinvar/49198 ^@ NM_000548.4(TSC2):c.2221-7T>G http://identifiers.org/clinvar/49199 ^@ NM_000548.4(TSC2):c.2225C>G (p.Ser742Ter) http://identifiers.org/clinvar/49200 ^@ NM_000548.4(TSC2):c.226-2A>G http://identifiers.org/clinvar/49201 ^@ NM_000548.4(TSC2):c.2277A>G (p.Arg759=) http://identifiers.org/clinvar/49202 ^@ NM_000548.4(TSC2):c.228C>T (p.His76=) http://identifiers.org/clinvar/49203 ^@ NM_000548.4(TSC2):c.2294_2295dupCC (p.Val766Profs) http://identifiers.org/clinvar/49204 ^@ NM_000548.4(TSC2):c.2356-1G>A http://identifiers.org/clinvar/49205 ^@ NM_000548.4(TSC2):c.2356-2A>C http://identifiers.org/clinvar/49206 ^@ NM_000548.4(TSC2):c.2404dupA (p.Ser802Lysfs) http://identifiers.org/clinvar/49207 ^@ NM_000548.4(TSC2):c.2407C>T (p.Gln803Ter) http://identifiers.org/clinvar/49208 ^@ NM_000548.4(TSC2):c.2430dupC (p.Cys811Leufs) http://identifiers.org/clinvar/49209 ^@ NM_000548.4(TSC2):c.2440G>A (p.Glu814Lys) http://identifiers.org/clinvar/49210 ^@ NM_000548.4(TSC2):c.2498_2502delTCTCA (p.Ile833Serfs) http://identifiers.org/clinvar/49211 ^@ NM_000548.4(TSC2):c.2508A>G (p.Thr836=) http://identifiers.org/clinvar/49212 ^@ NM_000548.4(TSC2):c.251C>T (p.Ala84Val) http://identifiers.org/clinvar/49213 ^@ NM_000548.4(TSC2):c.2539delC (p.Leu847Cysfs) http://identifiers.org/clinvar/49214 ^@ NM_000548.4(TSC2):c.2546-12C>T http://identifiers.org/clinvar/49215 ^@ NM_000548.4(TSC2):c.2546-2A>T http://identifiers.org/clinvar/49216 ^@ NM_000548.4(TSC2):c.2546-5C>T http://identifiers.org/clinvar/49217 ^@ NM_000548.4(TSC2):c.262C>T (p.Leu88=) http://identifiers.org/clinvar/49218 ^@ NM_000548.4(TSC2):c.2631C>T (p.Asn877=) http://identifiers.org/clinvar/49219 ^@ NM_000548.4(TSC2):c.2638_2639+2del http://identifiers.org/clinvar/49220 ^@ NM_000548.4(TSC2):c.2652C>T (p.Tyr884=) http://identifiers.org/clinvar/49221 ^@ NM_000548.4(TSC2):c.2660_2661delGT (p.Cys887Serfs) http://identifiers.org/clinvar/49222 ^@ NM_000548.4(TSC2):c.2661T>A (p.Cys887Ter) http://identifiers.org/clinvar/49223 ^@ NM_000548.4(TSC2):c.2682C>G (p.Ala894=) http://identifiers.org/clinvar/49224 ^@ NM_000548.4(TSC2):c.2729delC (p.Pro910Leufs) http://identifiers.org/clinvar/49225 ^@ NM_000548.4(TSC2):c.272C>T (p.Pro91Leu) http://identifiers.org/clinvar/49226 ^@ NM_000548.4(TSC2):c.2733delC (p.Phe911Leufs) http://identifiers.org/clinvar/49227 ^@ NM_000548.4(TSC2):c.2743-2A>C http://identifiers.org/clinvar/49228 ^@ NM_000548.4(TSC2):c.2743-2A>G http://identifiers.org/clinvar/49229 ^@ NM_000548.4(TSC2):c.2743-3C>A http://identifiers.org/clinvar/49230 ^@ NM_000548.4(TSC2):c.2746C>T (p.Leu916=) http://identifiers.org/clinvar/49231 ^@ NM_000548.4(TSC2):c.2784C>G (p.Pro928=) http://identifiers.org/clinvar/49232 ^@ NM_000548.4(TSC2):c.2784delC (p.Glu929Argfs) http://identifiers.org/clinvar/49233 ^@ NM_000548.4(TSC2):c.2798T>G (p.Phe933Cys) http://identifiers.org/clinvar/49234 ^@ NM_000548.4(TSC2):c.279dupG (p.Pro94Alafs) http://identifiers.org/clinvar/49235 ^@ NM_000548.4(TSC2):c.2887G>A (p.Val963Met) http://identifiers.org/clinvar/49236 ^@ NM_000548.4(TSC2):c.2974C>T (p.Gln992Ter) http://identifiers.org/clinvar/49237 ^@ NM_000548.4(TSC2):c.2975_2978delAGAC (p.Gln992Argfs) http://identifiers.org/clinvar/49238 ^@ NM_000548.4(TSC2):c.3037delG (p.Asp1013Ilefs) http://identifiers.org/clinvar/49239 ^@ NM_000548.4(TSC2):c.3076dupT (p.Cys1026Leufs) http://identifiers.org/clinvar/49240 ^@ NM_000548.4(TSC2):c.3094C>T (p.Arg1032Ter) http://identifiers.org/clinvar/49241 ^@ NM_000548.4(TSC2):c.3095G>C (p.Arg1032Pro) http://identifiers.org/clinvar/49242 ^@ NM_000548.4(TSC2):c.3128delA (p.Lys1043Argfs) http://identifiers.org/clinvar/49243 ^@ NM_000548.4(TSC2):c.3131+11_3131+28del18 http://identifiers.org/clinvar/49244 ^@ NM_000548.4(TSC2):c.3131+1G>A http://identifiers.org/clinvar/49245 ^@ NM_000548.4(TSC2):c.3132-1G>C http://identifiers.org/clinvar/49246 ^@ NM_000548.4(TSC2):c.3206_3207delTG (p.Val1069Aspfs) http://identifiers.org/clinvar/49247 ^@ NM_000548.4(TSC2):c.3212C>G (p.Thr1071Arg) http://identifiers.org/clinvar/49248 ^@ NM_000548.4(TSC2):c.3252C>G (p.Asp1084Glu) http://identifiers.org/clinvar/49249 ^@ NM_000548.4(TSC2):c.3284delG (p.Ser1095Thrfs) http://identifiers.org/clinvar/49250 ^@ NM_000548.4(TSC2):c.3310_3311delCA (p.Gln1104Aspfs) http://identifiers.org/clinvar/49251 ^@ NM_000548.4(TSC2):c.3327G>A (p.Pro1109=) http://identifiers.org/clinvar/49252 ^@ NM_000548.4(TSC2):c.3343C>T (p.Gln1115Ter) http://identifiers.org/clinvar/49253 ^@ NM_000548.4(TSC2):c.337-1G>T http://identifiers.org/clinvar/49254 ^@ NM_000548.4(TSC2):c.3373delC (p.Arg1125Glyfs) http://identifiers.org/clinvar/49255 ^@ NM_000548.4(TSC2):c.3383delT (p.Val1128Alafs) http://identifiers.org/clinvar/49256 ^@ NM_000548.4(TSC2):c.3397+1G>A http://identifiers.org/clinvar/49257 ^@ NM_000548.4(TSC2):c.3412C>T (p.Arg1138Ter) http://identifiers.org/clinvar/49258 ^@ NM_000548.4(TSC2):c.3421G>A (p.Ala1141Thr) http://identifiers.org/clinvar/49259 ^@ NM_000548.4(TSC2):c.3430G>T (p.Val1144Leu) http://identifiers.org/clinvar/49260 ^@ NM_000548.4(TSC2):c.3498dupT (p.Glu1167Terfs) http://identifiers.org/clinvar/49261 ^@ NM_000548.4(TSC2):c.3520delC (p.Arg1174Glyfs) http://identifiers.org/clinvar/49262 ^@ NM_000548.4(TSC2):c.352dupG (p.Val118Glyfs) http://identifiers.org/clinvar/49263 ^@ NM_000548.4(TSC2):c.3532C>T (p.Gln1178Ter) http://identifiers.org/clinvar/49264 ^@ NM_000548.4(TSC2):c.3610+1G>A http://identifiers.org/clinvar/49265 ^@ NM_000548.4(TSC2):c.3610+25G>C http://identifiers.org/clinvar/49266 ^@ NM_000548.4(TSC2):c.3610+6G>A http://identifiers.org/clinvar/49267 ^@ NM_000548.4(TSC2):c.3611-9C>T http://identifiers.org/clinvar/49268 ^@ NM_000548.4(TSC2):c.3653_3660delCTTTCTCC (p.Pro1218Leufs) http://identifiers.org/clinvar/49269 ^@ NM_000548.4(TSC2):c.3662C>A (p.Ser1221Ter) http://identifiers.org/clinvar/49270 ^@ NM_000548.4(TSC2):c.3685C>T (p.Gln1229Ter) http://identifiers.org/clinvar/49271 ^@ NM_000548.4(TSC2):c.3723C>T (p.Phe1241=) http://identifiers.org/clinvar/49272 ^@ NM_000548.4(TSC2):c.3755C>G (p.Ser1252Ter) http://identifiers.org/clinvar/49273 ^@ NM_000548.4(TSC2):c.3762_3783del22 (p.Val1255Asnfs) http://identifiers.org/clinvar/49274 ^@ NM_000548.4(TSC2):c.3769delG (p.Ala1257Glnfs) http://identifiers.org/clinvar/49275 ^@ NM_000548.4(TSC2):c.3844A>G (p.Ser1282Gly) http://identifiers.org/clinvar/49276 ^@ NM_000548.4(TSC2):c.385delG (p.Asp129Ilefs) http://identifiers.org/clinvar/49277 ^@ NM_000548.4(TSC2):c.3883+76C>A http://identifiers.org/clinvar/49278 ^@ NM_000548.4(TSC2):c.3883+78G>A http://identifiers.org/clinvar/49279 ^@ NM_000548.4(TSC2):c.3884-55A>T http://identifiers.org/clinvar/49280 ^@ NM_000548.4(TSC2):c.3915G>A (p.Pro1305=) http://identifiers.org/clinvar/49281 ^@ NM_000548.4(TSC2):c.4006-8C>T http://identifiers.org/clinvar/49282 ^@ NM_000548.4(TSC2):c.4023C>A (p.Ser1341Arg) http://identifiers.org/clinvar/49283 ^@ NM_000548.4(TSC2):c.410A>G (p.His137Arg) http://identifiers.org/clinvar/49284 ^@ NM_000548.4(TSC2):c.4115_4116delTG (p.Val1372Glyfs) http://identifiers.org/clinvar/49285 ^@ NM_000548.4(TSC2):c.4123_4124delTC (p.Ser1375Leufs) http://identifiers.org/clinvar/49286 ^@ NM_000548.4(TSC2):c.415delA (p.Arg139Glyfs) http://identifiers.org/clinvar/49287 ^@ NM_000548.4(TSC2):c.4207delG (p.Asp1403Thrfs) http://identifiers.org/clinvar/49288 ^@ NM_000548.4(TSC2):c.4241_4275del35 (p.Val1414Glyfs) http://identifiers.org/clinvar/49289 ^@ NM_000548.4(TSC2):c.4269G>A (p.Leu1423=) http://identifiers.org/clinvar/49290 ^@ NM_000548.4(TSC2):c.4289G>A (p.Trp1430Ter) http://identifiers.org/clinvar/49291 ^@ NM_000548.4(TSC2):c.4290G>A (p.Trp1430Ter) http://identifiers.org/clinvar/49292 ^@ NM_000548.4(TSC2):c.4293G>A (p.Ser1431=) http://identifiers.org/clinvar/49293 ^@ NM_000548.4(TSC2):c.4349C>G (p.Pro1450Arg) http://identifiers.org/clinvar/49294 ^@ NM_000548.4(TSC2):c.4355C>A (p.Ser1452Ter) http://identifiers.org/clinvar/49295 ^@ NM_000548.4(TSC2):c.4374_4375insT (p.Arg1459Serfs) http://identifiers.org/clinvar/49296 ^@ NM_000548.4(TSC2):c.4422_4423delAG (p.Arg1474Serfs) http://identifiers.org/clinvar/49297 ^@ NM_000548.4(TSC2):c.4424_4427dupTAGA (p.Glu1476Aspfs) http://identifiers.org/clinvar/49298 ^@ NM_000548.4(TSC2):c.4442dupA (p.Ser1482Glufs) http://identifiers.org/clinvar/49299 ^@ NM_000548.4(TSC2):c.4493G>A (p.Ser1498Asn) http://identifiers.org/clinvar/49300 ^@ NM_000548.4(TSC2):c.4504delC (p.Leu1502Cysfs) http://identifiers.org/clinvar/49301 ^@ NM_000548.4(TSC2):c.4507C>T (p.Gln1503Ter) http://identifiers.org/clinvar/49302 ^@ NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) http://identifiers.org/clinvar/49304 ^@ NM_000548.4(TSC2):c.4544_4547delACAA (p.Asn1515Serfs) http://identifiers.org/clinvar/49305 ^@ NM_000548.4(TSC2):c.4572dupA (p.Gln1525Thrfs) http://identifiers.org/clinvar/49306 ^@ NM_000548.4(TSC2):c.4573C>T (p.Gln1525Ter) http://identifiers.org/clinvar/49307 ^@ NM_000548.4(TSC2):c.4576_4582delTCCTTTG (p.Phe1527Glyfs) http://identifiers.org/clinvar/49308 ^@ NM_000548.4(TSC2):c.4601T>A (p.Leu1534His) http://identifiers.org/clinvar/49309 ^@ NM_000548.4(TSC2):c.4654_4655dupGA (p.Gly1553Lysfs) http://identifiers.org/clinvar/49310 ^@ NM_000548.4(TSC2):c.4655_4657delAAG (p.Glu1552del) http://identifiers.org/clinvar/49311 ^@ NM_000548.4(TSC2):c.465C>G (p.Tyr155Ter) http://identifiers.org/clinvar/49312 ^@ NM_000548.4(TSC2):c.4663-1G>A http://identifiers.org/clinvar/49313 ^@ NM_000548.4(TSC2):c.4663-38_4663-18dup21 http://identifiers.org/clinvar/49314 ^@ NM_000548.4(TSC2):c.4663-43G>A http://identifiers.org/clinvar/49315 ^@ NM_000548.4(TSC2):c.4704delC (p.Tyr1569Thrfs) http://identifiers.org/clinvar/49316 ^@ NM_000548.4(TSC2):c.4708A>T (p.Arg1570Trp) http://identifiers.org/clinvar/49317 ^@ NM_000548.4(TSC2):c.4727C>T (p.Thr1576Met) http://identifiers.org/clinvar/49318 ^@ NM_000548.4(TSC2):c.4727_4753del27 (p.Thr1576_Leu1584del) http://identifiers.org/clinvar/49319 ^@ NM_000548.4(TSC2):c.478C>G (p.Leu160Val) http://identifiers.org/clinvar/49320 ^@ NM_000548.4(TSC2):c.4790T>C (p.Leu1597Pro) http://identifiers.org/clinvar/49321 ^@ NM_000548.4(TSC2):c.481+1G>T http://identifiers.org/clinvar/49322 ^@ NM_000548.4(TSC2):c.482-2A>G http://identifiers.org/clinvar/49323 ^@ NM_000548.4(TSC2):c.4829G>A (p.Trp1610Ter) http://identifiers.org/clinvar/49324 ^@ NM_000548.4(TSC2):c.482C>T (p.Ala161Val) http://identifiers.org/clinvar/49325 ^@ NM_000548.4(TSC2):c.4842_4844delCAT (p.Ile1614del) http://identifiers.org/clinvar/49326 ^@ NM_000548.4(TSC2):c.4846C>T (p.Gln1616Ter) http://identifiers.org/clinvar/49327 ^@ NM_000548.4(TSC2):c.4858C>T (p.His1620Tyr) http://identifiers.org/clinvar/49328 ^@ NM_000548.4(TSC2):c.486C>T (p.Asp162=) http://identifiers.org/clinvar/49329 ^@ NM_000548.4(TSC2):c.4870_4871delCT (p.Leu1624Aspfs) http://identifiers.org/clinvar/49330 ^@ NM_000548.4(TSC2):c.4910dupA (p.Lys1638Glufs) http://identifiers.org/clinvar/49331 ^@ NM_000548.4(TSC2):c.4911G>A (p.Lys1637=) http://identifiers.org/clinvar/49332 ^@ NM_000548.4(TSC2):c.4916G>T (p.Arg1639Leu) http://identifiers.org/clinvar/49333 ^@ NM_000548.4(TSC2):c.4918C>T (p.His1640Tyr) http://identifiers.org/clinvar/49334 ^@ NM_000548.4(TSC2):c.4949A>G (p.Tyr1650Cys) http://identifiers.org/clinvar/49335 ^@ NM_000548.4(TSC2):c.4952A>G (p.Asn1651Ser) http://identifiers.org/clinvar/49336 ^@ NM_000548.4(TSC2):c.4958C>T (p.Ser1653Phe) http://identifiers.org/clinvar/49337 ^@ NM_000548.4(TSC2):c.4989+1_4989+2insA http://identifiers.org/clinvar/49338 ^@ NM_000548.4(TSC2):c.4989+1delG http://identifiers.org/clinvar/49339 ^@ NM_000548.4(TSC2):c.4991delG (p.Gly1664Alafs) http://identifiers.org/clinvar/49340 ^@ NM_000548.4(TSC2):c.4993C>T (p.Gln1665Ter) http://identifiers.org/clinvar/49341 ^@ NM_000548.4(TSC2):c.5034delC (p.Tyr1678Terfs) http://identifiers.org/clinvar/49342 ^@ NM_000548.4(TSC2):c.5043C>G (p.Asn1681Lys) http://identifiers.org/clinvar/49343 ^@ NM_000548.4(TSC2):c.5050T>C (p.Ser1684Pro) http://identifiers.org/clinvar/49344 ^@ NM_000548.4(TSC2):c.5068G>T (p.Asp1690Tyr) http://identifiers.org/clinvar/49345 ^@ NM_000548.4(TSC2):c.5069-18A>G http://identifiers.org/clinvar/49346 ^@ NM_000548.4(TSC2):c.5069-1G>A http://identifiers.org/clinvar/49347 ^@ NM_000548.4(TSC2):c.5069-22C>T http://identifiers.org/clinvar/49348 ^@ NM_000548.4(TSC2):c.5110T>A (p.Ser1704Thr) http://identifiers.org/clinvar/49349 ^@ NM_000548.4(TSC2):c.5122delC (p.Leu1708Cysfs) http://identifiers.org/clinvar/49350 ^@ NM_000548.4(TSC2):c.5126C>G (p.Pro1709Arg) http://identifiers.org/clinvar/49351 ^@ NM_000548.4(TSC2):c.5140C>T (p.Gln1714Ter) http://identifiers.org/clinvar/49352 ^@ NM_000548.4(TSC2):c.5150T>C (p.Leu1717Pro) http://identifiers.org/clinvar/49353 ^@ NM_000548.4(TSC2):c.5150_5159delTGCACGCAAA (p.His1718Trpfs) http://identifiers.org/clinvar/49354 ^@ NM_000548.4(TSC2):c.5160+6dupT http://identifiers.org/clinvar/49355 ^@ NM_000548.4(TSC2):c.5160+7G>C http://identifiers.org/clinvar/49356 ^@ NM_000548.4(TSC2):c.5160T>A (p.Asn1720Lys) http://identifiers.org/clinvar/49357 ^@ NM_000548.4(TSC2):c.5161-13C>G http://identifiers.org/clinvar/49359 ^@ NM_000548.4(TSC2):c.5161-4C>G http://identifiers.org/clinvar/49360 ^@ NM_000548.4(TSC2):c.5161delA (p.Met1721Trpfs) http://identifiers.org/clinvar/49361 ^@ NM_000548.4(TSC2):c.5197dupA (p.Thr1733Asnfs) http://identifiers.org/clinvar/49362 ^@ NM_000548.4(TSC2):c.5219G>A (p.Trp1740Ter) http://identifiers.org/clinvar/49363 ^@ NM_000548.4(TSC2):c.5220G>A (p.Trp1740Ter) http://identifiers.org/clinvar/49364 ^@ NM_000548.4(TSC2):c.5220_5225dupGATTGC (p.Ala1742_Arg1743insIleAla) http://identifiers.org/clinvar/49365 ^@ NM_000548.4(TSC2):c.5248C>T (p.Leu1750Phe) http://identifiers.org/clinvar/49366 ^@ NM_000548.4(TSC2):c.5252_5259+19del27 http://identifiers.org/clinvar/49367 ^@ NM_000548.4(TSC2):c.5254C>T (p.Gln1752Ter) http://identifiers.org/clinvar/49368 ^@ NM_000548.4(TSC2):c.529_532delCTTC (p.Leu177Trpfs) http://identifiers.org/clinvar/49369 ^@ NM_000548.4(TSC2):c.529delC (p.Leu177Phefs) http://identifiers.org/clinvar/49370 ^@ NM_000548.4(TSC2):c.5312C>T (p.Pro1771Leu) http://identifiers.org/clinvar/49371 ^@ NM_000548.4(TSC2):c.5384G>T (p.Arg1795Leu) http://identifiers.org/clinvar/49372 ^@ NM_000548.4(TSC2):c.5386C>A (p.Leu1796Ile) http://identifiers.org/clinvar/49373 ^@ NM_000548.4(TSC2):c.5408dupT (p.Thr1804Hisfs) http://identifiers.org/clinvar/49374 ^@ NM_000548.4(TSC2):c.5419G>T (p.Val1807Leu) http://identifiers.org/clinvar/49375 ^@ NM_000548.4(TSC2):c.593T>C (p.Met198Thr) http://identifiers.org/clinvar/49376 ^@ NM_000548.4(TSC2):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/49377 ^@ NM_000548.4(TSC2):c.599+1G>A http://identifiers.org/clinvar/49378 ^@ NM_000548.4(TSC2):c.633delC (p.Ser212Leufs) http://identifiers.org/clinvar/49379 ^@ NM_000548.4(TSC2):c.646G>A (p.Glu216Lys) http://identifiers.org/clinvar/49380 ^@ NM_000548.4(TSC2):c.646G>T (p.Glu216Ter) http://identifiers.org/clinvar/49381 ^@ NM_000548.4(TSC2):c.665T>C (p.Leu222Pro) http://identifiers.org/clinvar/49382 ^@ NM_000548.4(TSC2):c.729C>G (p.Leu243=) http://identifiers.org/clinvar/49383 ^@ NM_000548.4(TSC2):c.729_730delCT (p.Cys244Serfs) http://identifiers.org/clinvar/49384 ^@ NM_000548.4(TSC2):c.736A>G (p.Thr246Ala) http://identifiers.org/clinvar/49385 ^@ NM_000548.4(TSC2):c.774+2T>A http://identifiers.org/clinvar/49386 ^@ NM_000548.4(TSC2):c.781C>T (p.Arg261Trp) http://identifiers.org/clinvar/49387 ^@ NM_000548.4(TSC2):c.782G>C (p.Arg261Pro) http://identifiers.org/clinvar/49388 ^@ NM_000548.4(TSC2):c.849-1G>A http://identifiers.org/clinvar/49389 ^@ NM_000548.4(TSC2):c.849-2A>G http://identifiers.org/clinvar/49390 ^@ NM_000548.4(TSC2):c.849-3T>G http://identifiers.org/clinvar/49391 ^@ NM_000548.4(TSC2):c.871C>T (p.Leu291=) http://identifiers.org/clinvar/49392 ^@ NM_000548.4(TSC2):c.900_914dupCATGGCTCTCTGGGG (p.Gly305_Ala306insMetAlaLeuTrpGly) http://identifiers.org/clinvar/49393 ^@ NM_000548.4(TSC2):c.926_927delTCinsAG (p.Leu309Gln) http://identifiers.org/clinvar/49394 ^@ NM_000548.4(TSC2):c.940_941insCT (p.Asn314Thrfs) http://identifiers.org/clinvar/49395 ^@ NM_000548.4(TSC2):c.948G>A (p.Pro316=) http://identifiers.org/clinvar/49396 ^@ NM_000548.4(TSC2):c.976-15G>A http://identifiers.org/clinvar/49397 ^@ NM_000548.4(TSC2):c.976-1G>A http://identifiers.org/clinvar/49398 ^@ NM_000548.4(TSC2):c.976-1G>T http://identifiers.org/clinvar/49399 ^@ NM_000548.4(TSC2):c.848+7G>A http://identifiers.org/clinvar/49400 ^@ NM_000548.4(TSC2):c.849-17C>T http://identifiers.org/clinvar/49401 ^@ NM_000548.4(TSC2):c.849-53G>A http://identifiers.org/clinvar/49402 ^@ NM_000548.4(TSC2):c.880G>A (p.Gly294Arg) http://identifiers.org/clinvar/49403 ^@ NM_000548.4(TSC2):c.881G>A (p.Gly294Glu) http://identifiers.org/clinvar/49404 ^@ NM_000548.4(TSC2):c.903_922del20 (p.Trp304Phefs) http://identifiers.org/clinvar/49405 ^@ NM_000548.4(TSC2):c.911G>A (p.Trp304Ter) http://identifiers.org/clinvar/49407 ^@ NM_000548.4(TSC2):c.956dupT (p.Leu320Valfs) http://identifiers.org/clinvar/49408 ^@ NM_000548.4(TSC2):c.960G>T (p.Leu320Phe) http://identifiers.org/clinvar/49409 ^@ NM_000548.4(TSC2):c.600-84C>T http://identifiers.org/clinvar/49410 ^@ NM_000548.4(TSC2):c.648+1G>A http://identifiers.org/clinvar/49411 ^@ NM_000548.4(TSC2):c.658C>T (p.Gln220Ter) http://identifiers.org/clinvar/49412 ^@ NM_000548.4(TSC2):c.975+1delG http://identifiers.org/clinvar/49413 ^@ NM_000548.4(TSC2):c.707dupT (p.Leu238Alafs) http://identifiers.org/clinvar/49414 ^@ NM_000548.4(TSC2):c.5233_5237delCGCCA (p.Arg1745Hisfs) http://identifiers.org/clinvar/49415 ^@ NM_000548.4(TSC2):c.5234_5237delGCCA (p.Arg1745Profs) http://identifiers.org/clinvar/49416 ^@ NM_000548.4(TSC2):c.731_732delGT (p.Cys244Serfs) http://identifiers.org/clinvar/49417 ^@ NM_000548.4(TSC2):c.5259+1delG http://identifiers.org/clinvar/49418 ^@ NM_000548.4(TSC2):c.5259+38C>G http://identifiers.org/clinvar/49419 ^@ NM_000548.4(TSC2):c.525delA (p.Glu175Aspfs) http://identifiers.org/clinvar/49420 ^@ NM_000548.4(TSC2):c.5260-49C>T http://identifiers.org/clinvar/49421 ^@ NM_000548.4(TSC2):c.5276C>A (p.Ala1759Asp) http://identifiers.org/clinvar/49422 ^@ NM_000548.4(TSC2):c.5285delA (p.Asn1762Thrfs) http://identifiers.org/clinvar/49423 ^@ NM_000548.4(TSC2):c.767dupG (p.Cys256Trpfs) http://identifiers.org/clinvar/49424 ^@ NM_000548.4(TSC2):c.5340_5371del32 (p.Pro1784Alafs) http://identifiers.org/clinvar/49425 ^@ NM_000548.4(TSC2):c.5160+1G>A http://identifiers.org/clinvar/49426 ^@ NM_000548.4(TSC2):c.5160+1G>C http://identifiers.org/clinvar/49427 ^@ NM_000548.4(TSC2):c.5160+1G>T http://identifiers.org/clinvar/49428 ^@ NM_000548.4(TSC2):c.5160+4A>G http://identifiers.org/clinvar/49429 ^@ NM_000548.4(TSC2):c.5160+5G>A http://identifiers.org/clinvar/49430 ^@ NM_000548.4(TSC2):c.5160+5G>T http://identifiers.org/clinvar/49431 ^@ NM_000548.4(TSC2):c.5161-10A>C http://identifiers.org/clinvar/49432 ^@ NM_000548.4(TSC2):c.5161-10_5161-7del http://identifiers.org/clinvar/49433 ^@ NM_000548.4(TSC2):c.5388dupC (p.Ile1797Hisfs) http://identifiers.org/clinvar/49434 ^@ NM_000548.4(TSC2):c.5161-26_5161-23del http://identifiers.org/clinvar/49435 ^@ NM_000548.4(TSC2):c.5161-27_5161-25del http://identifiers.org/clinvar/49436 ^@ NM_000548.4(TSC2):c.5032dupT (p.Tyr1678Leufs) http://identifiers.org/clinvar/49437 ^@ NM_000548.4(TSC2):c.5034C>A (p.Tyr1678Ter) http://identifiers.org/clinvar/49438 ^@ NM_000548.4(TSC2):c.5161A>C (p.Met1721Leu) http://identifiers.org/clinvar/49439 ^@ NM_000548.4(TSC2):c.5053delC (p.Leu1685Cysfs) http://identifiers.org/clinvar/49440 ^@ NM_000548.4(TSC2):c.5056C>T (p.Gln1686Ter) http://identifiers.org/clinvar/49441 ^@ NM_000548.4(TSC2):c.5065A>G (p.Lys1689Glu) http://identifiers.org/clinvar/49442 ^@ NM_000548.4(TSC2):c.5068+9G>A http://identifiers.org/clinvar/49443 ^@ NM_000548.4(TSC2):c.5068G>C (p.Asp1690His) http://identifiers.org/clinvar/49444 ^@ NM_000548.4(TSC2):c.5170_5171delCA (p.Gln1724Glyfs) http://identifiers.org/clinvar/49445 ^@ NM_000548.4(TSC2):c.5173delG (p.Val1725Cysfs) http://identifiers.org/clinvar/49446 ^@ NM_000548.4(TSC2):c.825C>A (p.Asn275Lys) http://identifiers.org/clinvar/49447 ^@ NM_000548.4(TSC2):c.826_827delAT (p.Met276Valfs) http://identifiers.org/clinvar/49448 ^@ NM_000548.4(TSC2):c.832dupC (p.His278Profs) http://identifiers.org/clinvar/49449 ^@ NM_000548.4(TSC2):c.5078_5081delGCCT (p.Gly1693Valfs) http://identifiers.org/clinvar/49450 ^@ NM_000548.4(TSC2):c.5084_5094delTGGACACCAGC (p.Val1695Glyfs) http://identifiers.org/clinvar/49451 ^@ NM_000548.4(TSC2):c.5094C>A (p.Ser1698Arg) http://identifiers.org/clinvar/49453 ^@ NM_000548.4(TSC2):c.5208C>A (p.Tyr1736Ter) http://identifiers.org/clinvar/49454 ^@ NM_000548.4(TSC2):c.5211_5214delCTCC (p.Lys1739Glyfs) http://identifiers.org/clinvar/49455 ^@ NM_000548.4(TSC2):c.4925delG (p.Gly1642Alafs) http://identifiers.org/clinvar/49456 ^@ NM_000548.4(TSC2):c.5117G>A (p.Arg1706His) http://identifiers.org/clinvar/49457 ^@ NM_000548.4(TSC2):c.4935delT (p.Phe1645Leufs) http://identifiers.org/clinvar/49458 ^@ NM_000548.4(TSC2):c.4943T>C (p.Ile1648Thr) http://identifiers.org/clinvar/49459 ^@ NM_000548.4(TSC2):c.4948T>A (p.Tyr1650Asn) http://identifiers.org/clinvar/49460 ^@ NM_000548.4(TSC2):c.4743delC (p.Ile1582Serfs) http://identifiers.org/clinvar/49461 ^@ NM_000548.4(TSC2):c.4744dupA (p.Ile1582Asnfs) http://identifiers.org/clinvar/49462 ^@ NM_000548.4(TSC2):c.4959C>A (p.Ser1653=) http://identifiers.org/clinvar/49463 ^@ NM_000548.4(TSC2):c.4780C>A (p.Leu1594Met) http://identifiers.org/clinvar/49464 ^@ NM_000548.4(TSC2):c.4783G>A (p.Gly1595Arg) http://identifiers.org/clinvar/49465 ^@ NM_000548.4(TSC2):c.5135C>A (p.Ala1712Asp) http://identifiers.org/clinvar/49466 ^@ NM_000548.4(TSC2):c.5136_5137delCC (p.Arg1713Profs) http://identifiers.org/clinvar/49467 ^@ NM_000548.4(TSC2):c.4983C>T (p.Thr1661=) http://identifiers.org/clinvar/49468 ^@ NM_000548.4(TSC2):c.4989+1G>A http://identifiers.org/clinvar/49469 ^@ NM_000548.4(TSC2):c.4989+1G>C http://identifiers.org/clinvar/49470 ^@ NM_000548.4(TSC2):c.482-7_482-6delCCinsAA http://identifiers.org/clinvar/49471 ^@ NM_000548.4(TSC2):c.5227C>T (p.Arg1743Trp) http://identifiers.org/clinvar/49473 ^@ NM_000548.4(TSC2):c.4579T>C (p.Phe1527Leu) http://identifiers.org/clinvar/49474 ^@ NM_000548.4(TSC2):c.4830delG (p.Trp1610Cysfs) http://identifiers.org/clinvar/49475 ^@ NM_000548.4(TSC2):c.4606C>T (p.Gln1536Ter) http://identifiers.org/clinvar/49476 ^@ NM_000548.4(TSC2):c.4620C>A (p.Tyr1540Ter) http://identifiers.org/clinvar/49477 ^@ NM_000548.4(TSC2):c.4990-7C>T http://identifiers.org/clinvar/49478 ^@ NM_000548.4(TSC2):c.4645T>A (p.Tyr1549Asn) http://identifiers.org/clinvar/49479 ^@ NM_000548.4(TSC2):c.4646A>G (p.Tyr1549Cys) http://identifiers.org/clinvar/49480 ^@ NM_000548.4(TSC2):c.4646delA (p.Tyr1549Leufs) http://identifiers.org/clinvar/49481 ^@ NM_000548.4(TSC2):c.4662+16C>T http://identifiers.org/clinvar/49482 ^@ NM_000548.4(TSC2):c.4662+17G>A http://identifiers.org/clinvar/49483 ^@ NM_000548.4(TSC2):c.5144_5155delTGGCCCTGCACG (p.Met1715_Ala1719delinsThr) http://identifiers.org/clinvar/49484 ^@ NM_000548.4(TSC2):c.5146G>C (p.Ala1716Pro) http://identifiers.org/clinvar/49485 ^@ NM_000548.4(TSC2):c.4662G>A (p.Gln1554=) http://identifiers.org/clinvar/49486 ^@ NM_000548.4(TSC2):c.4662G>T (p.Gln1554His) http://identifiers.org/clinvar/49487 ^@ NM_000548.4(TSC2):c.4663-17C>G http://identifiers.org/clinvar/49488 ^@ NM_000548.4(TSC2):c.4424_4428delTAGAG (p.Val1475Glufs) http://identifiers.org/clinvar/49489 ^@ NM_000548.4(TSC2):c.4856T>C (p.Phe1619Ser) http://identifiers.org/clinvar/49490 ^@ NM_000548.4(TSC2):c.4489C>A (p.Pro1497Thr) http://identifiers.org/clinvar/49491 ^@ NM_000548.4(TSC2):c.4490C>G (p.Pro1497Arg) http://identifiers.org/clinvar/49492 ^@ NM_000548.4(TSC2):c.4494-1G>A http://identifiers.org/clinvar/49493 ^@ NM_000548.4(TSC2):c.4494-1G>C http://identifiers.org/clinvar/49494 ^@ NM_000548.4(TSC2):c.4499T>G (p.Val1500Gly) http://identifiers.org/clinvar/49495 ^@ NM_000548.4(TSC2):c.5017G>C (p.Val1673Leu) http://identifiers.org/clinvar/49496 ^@ NM_000548.4(TSC2):c.4136C>A (p.Ser1379Ter) http://identifiers.org/clinvar/49497 ^@ NM_000548.4(TSC2):c.4138C>T (p.Gln1380Ter) http://identifiers.org/clinvar/49498 ^@ NM_000548.4(TSC2):c.4509G>T (p.Gln1503His) http://identifiers.org/clinvar/49499 ^@ NM_000548.4(TSC2):c.4511T>A (p.Leu1504His) http://identifiers.org/clinvar/49500 ^@ NM_000548.4(TSC2):c.4695delG (p.Glu1565Aspfs) http://identifiers.org/clinvar/49501 ^@ NM_000548.4(TSC2):c.4697dupA (p.His1566Glnfs) http://identifiers.org/clinvar/49502 ^@ NM_000548.4(TSC2):c.469G>T (p.Glu157Ter) http://identifiers.org/clinvar/49503 ^@ NM_000548.4(TSC2):c.4215C>T (p.Ala1405=) http://identifiers.org/clinvar/49504 ^@ NM_000548.4(TSC2):c.4536C>T (p.Asp1512=) http://identifiers.org/clinvar/49505 ^@ NM_000548.4(TSC2):c.4537delG (p.Glu1513Serfs) http://identifiers.org/clinvar/49506 ^@ NM_000548.4(TSC2):c.4249delC (p.Arg1417Glyfs) http://identifiers.org/clinvar/49507 ^@ NM_000548.4(TSC2):c.4871T>C (p.Leu1624Pro) http://identifiers.org/clinvar/49508 ^@ NM_000548.4(TSC2):c.4873delA (p.Met1625Cysfs) http://identifiers.org/clinvar/49509 ^@ NM_000548.4(TSC2):c.3815-27G>A http://identifiers.org/clinvar/49510 ^@ NM_000548.4(TSC2):c.3815-28C>G http://identifiers.org/clinvar/49511 ^@ NM_000548.4(TSC2):c.3883+15_3883+16delAG http://identifiers.org/clinvar/49512 ^@ NM_000548.4(TSC2):c.3883+37C>T http://identifiers.org/clinvar/49513 ^@ NM_000548.4(TSC2):c.3884-17C>G http://identifiers.org/clinvar/49514 ^@ NM_000548.4(TSC2):c.3884-1G>A http://identifiers.org/clinvar/49515 ^@ NM_000548.4(TSC2):c.3884-2A>T http://identifiers.org/clinvar/49516 ^@ NM_000548.4(TSC2):c.4298C>A (p.Ser1433Ter) http://identifiers.org/clinvar/49517 ^@ NM_000548.4(TSC2):c.3913C>T (p.Pro1305Ser) http://identifiers.org/clinvar/49518 ^@ NM_000548.4(TSC2):c.4712A>G (p.Tyr1571Cys) http://identifiers.org/clinvar/49519 ^@ NM_000548.4(TSC2):c.4713C>G (p.Tyr1571Ter) http://identifiers.org/clinvar/49520 ^@ NM_000548.4(TSC2):c.3937G>T (p.Glu1313Ter) http://identifiers.org/clinvar/49521 ^@ NM_000548.4(TSC2):c.3943_3944delCC (p.Pro1315Argfs) http://identifiers.org/clinvar/49522 ^@ NM_000548.4(TSC2):c.3956A>T (p.Asp1319Val) http://identifiers.org/clinvar/49523 ^@ NM_000548.4(TSC2):c.3578delG (p.Gly1193Alafs) http://identifiers.org/clinvar/49524 ^@ NM_000548.4(TSC2):c.4318C>T (p.Gln1440Ter) http://identifiers.org/clinvar/49525 ^@ NM_000548.4(TSC2):c.4323dupC (p.Glu1442Argfs) http://identifiers.org/clinvar/49526 ^@ NM_000548.4(TSC2):c.3610+9C>T http://identifiers.org/clinvar/49527 ^@ NM_000548.4(TSC2):c.3610G>A (p.Gly1204Arg) http://identifiers.org/clinvar/49528 ^@ NM_000548.4(TSC2):c.3622T>C (p.Trp1208Arg) http://identifiers.org/clinvar/49529 ^@ NM_000548.4(TSC2):c.3622T>G (p.Trp1208Gly) http://identifiers.org/clinvar/49530 ^@ NM_000548.4(TSC2):c.363C>T (p.Ala121=) http://identifiers.org/clinvar/49531 ^@ NM_000548.4(TSC2):c.4570-21_4570-11dup http://identifiers.org/clinvar/49532 ^@ NM_000548.4(TSC2):c.330delGinsAT (p.Gly111Trpfs) http://identifiers.org/clinvar/49533 ^@ NM_000548.4(TSC2):c.3663G>A (p.Ser1221=) http://identifiers.org/clinvar/49534 ^@ NM_000548.4(TSC2):c.3663_3664delGG (p.Asp1222Hisfs) http://identifiers.org/clinvar/49535 ^@ NM_000548.4(TSC2):c.3669delC (p.Asn1224Thrfs) http://identifiers.org/clinvar/49536 ^@ NM_000548.4(TSC2):c.403dupG (p.Asp135Glyfs) http://identifiers.org/clinvar/49537 ^@ NM_000548.4(TSC2):c.4044C>T (p.His1348=) http://identifiers.org/clinvar/49538 ^@ NM_000548.4(TSC2):c.336+30G>A http://identifiers.org/clinvar/49539 ^@ NM_000548.4(TSC2):c.3696dupT (p.Asn1233Terfs) http://identifiers.org/clinvar/49540 ^@ NM_000548.4(TSC2):c.3703C>T (p.Leu1235Phe) http://identifiers.org/clinvar/49541 ^@ NM_000548.4(TSC2):c.3384_3397+2del16 http://identifiers.org/clinvar/49542 ^@ NM_000548.4(TSC2):c.3390delC (p.Met1131Cysfs) http://identifiers.org/clinvar/49543 ^@ NM_000548.4(TSC2):c.3018C>T (p.Asn1006=) http://identifiers.org/clinvar/49544 ^@ NM_000548.4(TSC2):c.3025G>T (p.Ala1009Ser) http://identifiers.org/clinvar/49545 ^@ NM_000548.4(TSC2):c.3028C>T (p.Gln1010Ter) http://identifiers.org/clinvar/49546 ^@ NM_000548.4(TSC2):c.3398-10T>C http://identifiers.org/clinvar/49547 ^@ NM_000548.4(TSC2):c.3082G>A (p.Asp1028Asn) http://identifiers.org/clinvar/49548 ^@ NM_000548.4(TSC2):c.3744C>T (p.Ala1248=) http://identifiers.org/clinvar/49549 ^@ NM_000548.4(TSC2):c.3750C>A (p.Tyr1250Ter) http://identifiers.org/clinvar/49550 ^@ NM_000548.4(TSC2):c.3750C>G (p.Tyr1250Ter) http://identifiers.org/clinvar/49551 ^@ NM_000548.4(TSC2):c.3422C>T (p.Ala1141Val) http://identifiers.org/clinvar/49552 ^@ NM_000548.4(TSC2):c.3425dupT (p.Asp1143Glyfs) http://identifiers.org/clinvar/49553 ^@ NM_000548.4(TSC2):c.3429C>T (p.Asp1143=) http://identifiers.org/clinvar/49554 ^@ NM_000548.4(TSC2):c.3115_3116insTCCA (p.Thr1039Ilefs) http://identifiers.org/clinvar/49555 ^@ NM_000548.4(TSC2):c.4096G>T (p.Glu1366Ter) http://identifiers.org/clinvar/49556 ^@ NM_000548.4(TSC2):c.4105C>T (p.Arg1369Trp) http://identifiers.org/clinvar/49557 ^@ NM_000548.4(TSC2):c.2742+13C>T http://identifiers.org/clinvar/49558 ^@ NM_000548.4(TSC2):c.2742+15G>A http://identifiers.org/clinvar/49559 ^@ NM_000548.4(TSC2):c.2743-11C>T http://identifiers.org/clinvar/49560 ^@ NM_000548.4(TSC2):c.2743-1G>A http://identifiers.org/clinvar/49561 ^@ NM_000548.4(TSC2):c.2743-1G>C http://identifiers.org/clinvar/49562 ^@ NM_000548.4(TSC2):c.3451_3454dupGGCA (p.Ser1152Argfs) http://identifiers.org/clinvar/49563 ^@ NM_000548.4(TSC2):c.2743-66A>G http://identifiers.org/clinvar/49564 ^@ NM_000548.4(TSC2):c.3138T>C (p.Pro1046=) http://identifiers.org/clinvar/49565 ^@ NM_000548.4(TSC2):c.3140T>C (p.Val1047Ala) http://identifiers.org/clinvar/49566 ^@ NM_000548.4(TSC2):c.3178T>C (p.Trp1060Arg) http://identifiers.org/clinvar/49567 ^@ NM_000548.4(TSC2):c.3782C>A (p.Ala1261Asp) http://identifiers.org/clinvar/49568 ^@ NM_000548.4(TSC2):c.3791delC (p.Pro1264Leufs) http://identifiers.org/clinvar/49569 ^@ NM_000548.4(TSC2):c.2546-1G>A http://identifiers.org/clinvar/49570 ^@ NM_000548.4(TSC2):c.2546-1G>C http://identifiers.org/clinvar/49571 ^@ NM_000548.4(TSC2):c.2785delG (p.Glu929Argfs) http://identifiers.org/clinvar/49572 ^@ NM_000548.4(TSC2):c.255C>T (p.Val85=) http://identifiers.org/clinvar/49573 ^@ NM_000548.4(TSC2):c.2580T>C (p.Phe860=) http://identifiers.org/clinvar/49574 ^@ NM_000548.4(TSC2):c.2608_2613dupGCCATC (p.Ile871_Ser872insAlaIle) http://identifiers.org/clinvar/49575 ^@ NM_000548.4(TSC2):c.2619G>T (p.Leu873=) http://identifiers.org/clinvar/49576 ^@ NM_000548.4(TSC2):c.2639+1dupG http://identifiers.org/clinvar/49577 ^@ NM_000548.4(TSC2):c.3509C>A (p.Ser1170Ter) http://identifiers.org/clinvar/49578 ^@ NM_000548.4(TSC2):c.3509C>G (p.Ser1170Ter) http://identifiers.org/clinvar/49579 ^@ NM_000548.4(TSC2):c.2643delT (p.Phe881Leufs) http://identifiers.org/clinvar/49580 ^@ NM_000548.4(TSC2):c.2647C>T (p.Gln883Ter) http://identifiers.org/clinvar/49581 ^@ NM_000548.4(TSC2):c.2356-63A>C http://identifiers.org/clinvar/49582 ^@ NM_000548.4(TSC2):c.2359G>T (p.Glu787Ter) http://identifiers.org/clinvar/49583 ^@ NM_000548.4(TSC2):c.2380C>T (p.Gln794Ter) http://identifiers.org/clinvar/49584 ^@ NM_000548.4(TSC2):c.2392delC (p.His798Thrfs) http://identifiers.org/clinvar/49585 ^@ NM_000548.4(TSC2):c.2399delG (p.Cys800Leufs) http://identifiers.org/clinvar/49586 ^@ NM_000548.4(TSC2):c.2666C>T (p.Ala889Val) http://identifiers.org/clinvar/49587 ^@ NM_000548.4(TSC2):c.2423T>C (p.Leu808Ser) http://identifiers.org/clinvar/49588 ^@ NM_000548.4(TSC2):c.3261G>C (p.Glu1087Asp) http://identifiers.org/clinvar/49589 ^@ NM_000548.4(TSC2):c.3265C>T (p.Gln1089Ter) http://identifiers.org/clinvar/49590 ^@ NM_000548.4(TSC2):c.3268_3271dupTCCG (p.Gly1091Valfs) http://identifiers.org/clinvar/49592 ^@ NM_000548.4(TSC2):c.2459_2461delTCA (p.Ile820del) http://identifiers.org/clinvar/49593 ^@ NM_000548.4(TSC2):c.2461A>T (p.Lys821Ter) http://identifiers.org/clinvar/49594 ^@ NM_000548.4(TSC2):c.2106dupC (p.Trp703Leufs) http://identifiers.org/clinvar/49595 ^@ NM_000548.4(TSC2):c.2690T>C (p.Phe897Ser) http://identifiers.org/clinvar/49596 ^@ NM_000548.4(TSC2):c.2697G>T (p.Arg899Ser) http://identifiers.org/clinvar/49597 ^@ NM_000548.4(TSC2):c.2153G>C (p.Arg718Pro) http://identifiers.org/clinvar/49598 ^@ NM_000548.4(TSC2):c.2163delG (p.Leu722Serfs) http://identifiers.org/clinvar/49599 ^@ NM_000548.4(TSC2):c.21delA (p.Asp8Ilefs) http://identifiers.org/clinvar/49600 ^@ NM_000548.4(TSC2):c.2206_2210dupGCTCT (p.Cys738Leufs) http://identifiers.org/clinvar/49601 ^@ NM_000548.4(TSC2):c.2210T>C (p.Leu737Pro) http://identifiers.org/clinvar/49602 ^@ NM_000548.4(TSC2):c.2977_3025del49 (p.Thr993Profs) http://identifiers.org/clinvar/49603 ^@ NM_000548.4(TSC2):c.1882C>G (p.Arg628Gly) http://identifiers.org/clinvar/49604 ^@ NM_000548.4(TSC2):c.2221-28A>G http://identifiers.org/clinvar/49605 ^@ NM_000548.4(TSC2):c.2221-2A>C http://identifiers.org/clinvar/49606 ^@ NM_000548.4(TSC2):c.1946+60G>C http://identifiers.org/clinvar/49607 ^@ NM_000548.4(TSC2):c.2525delC (p.Pro842Hisfs) http://identifiers.org/clinvar/49608 ^@ NM_000548.4(TSC2):c.2530delC (p.Leu844Trpfs) http://identifiers.org/clinvar/49609 ^@ NM_000548.4(TSC2):c.2537T>A (p.Phe846Tyr) http://identifiers.org/clinvar/49610 ^@ NM_000548.4(TSC2):c.2235_2236delGA (p.Lys745Asnfs) http://identifiers.org/clinvar/49611 ^@ NM_000548.4(TSC2):c.2239C>T (p.Leu747=) http://identifiers.org/clinvar/49612 ^@ NM_000548.4(TSC2):c.2240_2241delTG (p.Leu747Argfs) http://identifiers.org/clinvar/49613 ^@ NM_000548.4(TSC2):c.1975_1981delACCAGCG (p.Thr659Alafs) http://identifiers.org/clinvar/49614 ^@ NM_000548.4(TSC2):c.2717dupA (p.Asp907Glyfs) http://identifiers.org/clinvar/49615 ^@ NM_000548.4(TSC2):c.1693delC (p.Leu565Trpfs) http://identifiers.org/clinvar/49616 ^@ NM_000548.4(TSC2):c.2031C>T (p.Pro677=) http://identifiers.org/clinvar/49617 ^@ NM_000548.4(TSC2):c.1717-16C>T http://identifiers.org/clinvar/49618 ^@ NM_000548.4(TSC2):c.1717-1G>A http://identifiers.org/clinvar/49619 ^@ NM_000548.4(TSC2):c.1717-30G>A http://identifiers.org/clinvar/49620 ^@ NM_000548.4(TSC2):c.1717_1839del123 (p.Thr573_Gln613del) http://identifiers.org/clinvar/49621 ^@ NM_000548.4(TSC2):c.1735C>G (p.Pro579Ala) http://identifiers.org/clinvar/49622 ^@ NM_000548.4(TSC2):c.2061_2073delCCTGCTCTTCCGC (p.Leu688Serfs) http://identifiers.org/clinvar/49623 ^@ NM_000548.4(TSC2):c.1760_1761delAT (p.Tyr587Terfs) http://identifiers.org/clinvar/49624 ^@ NM_000548.4(TSC2):c.1769T>C (p.Leu590Pro) http://identifiers.org/clinvar/49625 ^@ NM_000548.4(TSC2):c.2545+10C>T http://identifiers.org/clinvar/49626 ^@ NM_000548.4(TSC2):c.2545+26G>A http://identifiers.org/clinvar/49627 ^@ NM_000548.4(TSC2):c.1410delC (p.Phe471Leufs) http://identifiers.org/clinvar/49628 ^@ NM_000548.4(TSC2):c.1787T>C (p.Leu596Pro) http://identifiers.org/clinvar/49629 ^@ NM_000548.4(TSC2):c.1790A>G (p.His597Arg) http://identifiers.org/clinvar/49630 ^@ NM_000548.4(TSC2):c.1790_1794delACTAC (p.His597Glnfs) http://identifiers.org/clinvar/49631 ^@ NM_000548.4(TSC2):c.2082_2083delGCinsTT (p.Gln695Ter) http://identifiers.org/clinvar/49632 ^@ NM_000548.4(TSC2):c.2083C>T (p.Gln695Ter) http://identifiers.org/clinvar/49633 ^@ NM_000548.4(TSC2):c.1444-2A>G http://identifiers.org/clinvar/49634 ^@ NM_000548.4(TSC2):c.1796A>T (p.Lys599Met) http://identifiers.org/clinvar/49635 ^@ NM_000548.4(TSC2):c.1479C>T (p.Leu493=) http://identifiers.org/clinvar/49636 ^@ NM_000548.4(TSC2):c.1491delC (p.Glu498Argfs) http://identifiers.org/clinvar/49637 ^@ NM_000548.4(TSC2):c.1492G>T (p.Glu498Ter) http://identifiers.org/clinvar/49638 ^@ NM_000548.4(TSC2):c.1235A>T (p.Glu412Val) http://identifiers.org/clinvar/49639 ^@ NM_000548.4(TSC2):c.1246G>T (p.Asp416Tyr) http://identifiers.org/clinvar/49640 ^@ NM_000548.4(TSC2):c.1564delC (p.His522Thrfs) http://identifiers.org/clinvar/49641 ^@ NM_000548.4(TSC2):c.1258-2A>C http://identifiers.org/clinvar/49642 ^@ NM_000548.4(TSC2):c.1258-32C>G http://identifiers.org/clinvar/49643 ^@ NM_000548.4(TSC2):c.1831C>T (p.Arg611Trp) http://identifiers.org/clinvar/49644 ^@ NM_000548.4(TSC2):c.1283_1285delCCT (p.Ser428del) http://identifiers.org/clinvar/49645 ^@ NM_000548.4(TSC2):c.1287T>G (p.Tyr429Ter) http://identifiers.org/clinvar/49646 ^@ NM_000548.4(TSC2):c.1599+1G>A http://identifiers.org/clinvar/49647 ^@ NM_000548.4(TSC2):c.1599+2T>C http://identifiers.org/clinvar/49648 ^@ NM_000548.4(TSC2):c.2088C>A (p.Cys696Ter) http://identifiers.org/clinvar/49649 ^@ NM_000548.4(TSC2):c.2089_2090dupTT (p.Leu697Phefs) http://identifiers.org/clinvar/49650 ^@ NM_000548.4(TSC2):c.2090dupT (p.Leu697Phefs) http://identifiers.org/clinvar/49651 ^@ NM_000548.4(TSC2):c.1348G>T (p.Glu450Ter) http://identifiers.org/clinvar/49652 ^@ NM_000548.4(TSC2):c.1600_1716del117 (p.Val534_Gln572del) http://identifiers.org/clinvar/49653 ^@ NM_000548.4(TSC2):c.1004C>G (p.Ser335Cys) http://identifiers.org/clinvar/49654 ^@ NM_000548.4(TSC2):c.1009G>A (p.Glu337Lys) http://identifiers.org/clinvar/49655 ^@ NM_000548.4(TSC2):c.1011_1014delGATCinsCATGGCAT (p.Glu337Aspfs) http://identifiers.org/clinvar/49656 ^@ NM_000548.4(TSC2):c.1060C>T (p.Gln354Ter) http://identifiers.org/clinvar/49657 ^@ NM_000548.4(TSC2):c.1082T>C (p.Leu361Pro) http://identifiers.org/clinvar/49658 ^@ NM_000548.4(TSC2):c.1839+6G>A http://identifiers.org/clinvar/49659 ^@ NM_000548.4(TSC2):c.1840-2A>T http://identifiers.org/clinvar/49660 ^@ NM_000548.4(TSC2):c.1378G>A (p.Ala460Thr) http://identifiers.org/clinvar/49661 ^@ NM_000548.4(TSC2):c.138+1G>A http://identifiers.org/clinvar/49662 ^@ NM_000548.4(TSC2):c.*26G>A http://identifiers.org/clinvar/49664 ^@ NM_000548.4(TSC2):c.*59_*62delTAAA http://identifiers.org/clinvar/49665 ^@ NM_000548.4(TSC2):c.1142_1173del32 (p.Thr382Glyfs) http://identifiers.org/clinvar/49666 ^@ NM_000548.4(TSC2):c.1143G>A (p.Arg381=) http://identifiers.org/clinvar/49667 ^@ NM_000548.4(TSC2):c.1385_1386delGCinsCT (p.Arg462Pro) http://identifiers.org/clinvar/49668 ^@ NM_000548.4(TSC2):c.1219T>G (p.Tyr407Asp) http://identifiers.org/clinvar/49669 ^@ NM_000548.4(TSC2):c.1220_1221delAC (p.Tyr407Phefs) http://identifiers.org/clinvar/49670 ^@ NM_000548.4(TSC2):c.1616delT (p.Leu539Profs) http://identifiers.org/clinvar/49671 ^@ NM_000548.4(TSC2):c.1628C>T (p.Pro543Leu) http://identifiers.org/clinvar/49672 ^@ NM_000548.4(TSC2):c.1632G>T (p.Glu544Asp) http://identifiers.org/clinvar/49673 ^@ NM_000548.4(TSC2):c.1142G>A (p.Arg381Lys) http://identifiers.org/clinvar/49674 ^@ NM_000548.4(TSC2):c.1387A>G (p.Ile463Val) http://identifiers.org/clinvar/49675 ^@ NM_000548.4(TSC2):c.138_138+1delAG http://identifiers.org/clinvar/49676 ^@ NM_000548.4(TSC2):c.1210C>T (p.Gln404Ter) http://identifiers.org/clinvar/49677 ^@ NM_000548.4(TSC2):c.2295C>T (p.Ala765=) http://identifiers.org/clinvar/49678 ^@ NM_000548.4(TSC2):c.2306T>A (p.Val769Glu) http://identifiers.org/clinvar/49679 ^@ NM_000548.4(TSC2):c.2328C>A (p.Tyr776Ter) http://identifiers.org/clinvar/49680 ^@ NM_000548.4(TSC2):c.1229T>G (p.Leu410Arg) http://identifiers.org/clinvar/49681 ^@ NM_000548.4(TSC2):c.1574A>G (p.Asn525Ser) http://identifiers.org/clinvar/49682 ^@ NM_000548.4(TSC2):c.1577_1580delGCCT (p.Leu527Trpfs) http://identifiers.org/clinvar/49683 ^@ NM_000548.4(TSC2):c.1257+2T>C http://identifiers.org/clinvar/49684 ^@ NM_000548.4(TSC2):c.1837C>T (p.Gln613Ter) http://identifiers.org/clinvar/49685 ^@ NM_000548.4(TSC2):c.1281C>A (p.Ile427=) http://identifiers.org/clinvar/49686 ^@ NM_000548.4(TSC2):c.1599G>A (p.Lys533=) http://identifiers.org/clinvar/49687 ^@ NM_000548.4(TSC2):c.1336C>T (p.Gln446Ter) http://identifiers.org/clinvar/49688 ^@ NM_000548.4(TSC2):c.1337_1340dupAGGC (p.Leu448Glyfs) http://identifiers.org/clinvar/49689 ^@ NM_000548.4(TSC2):c.1337delA (p.Gln446Argfs) http://identifiers.org/clinvar/49690 ^@ NM_000548.4(TSC2):c.1959_1960dupAG (p.Gly654Glufs) http://identifiers.org/clinvar/49691 ^@ NM_000548.4(TSC2):c.1960_1961delGG (p.Gly654Leufs) http://identifiers.org/clinvar/49692 ^@ NM_000548.4(TSC2):c.1965dupT (p.Glu656Terfs) http://identifiers.org/clinvar/49693 ^@ NM_000548.4(TSC2):c.1361+1G>A http://identifiers.org/clinvar/49694 ^@ NM_000548.4(TSC2):c.1361+54_1361+57del http://identifiers.org/clinvar/49695 ^@ NM_000548.4(TSC2):c.1600-39C>T http://identifiers.org/clinvar/49696 ^@ NM_000548.4(TSC2):c.1600-3A>G http://identifiers.org/clinvar/49697 ^@ NM_000548.4(TSC2):c.1981G>C (p.Gly661Arg) http://identifiers.org/clinvar/49698 ^@ NM_000548.4(TSC2):c.1982_1983delGCinsTT (p.Gly661Val) http://identifiers.org/clinvar/49699 ^@ NM_000548.4(TSC2):c.1708_1710dupATC (p.Ile570_Leu571insIle) http://identifiers.org/clinvar/49700 ^@ NM_000548.4(TSC2):c.1716+10C>A http://identifiers.org/clinvar/49701 ^@ NM_000548.3(TSC2):c.2021_2022insA (p.Ala675Cysfs) http://identifiers.org/clinvar/49702 ^@ NM_000548.4(TSC2):c.2024_2042del19 (p.Ala675Glyfs) http://identifiers.org/clinvar/49703 ^@ NM_000548.4(TSC2):c.1362-32C>G http://identifiers.org/clinvar/49704 ^@ NM_000548.4(TSC2):c.1362-62G>C http://identifiers.org/clinvar/49705 ^@ NM_000548.4(TSC2):c.1362-70A>C http://identifiers.org/clinvar/49706 ^@ NM_000548.4(TSC2):c.1042A>T (p.Lys348Ter) http://identifiers.org/clinvar/49707 ^@ NM_000548.4(TSC2):c.1717-1G>T http://identifiers.org/clinvar/49708 ^@ NM_000548.4(TSC2):c.226-32A>G http://identifiers.org/clinvar/49709 ^@ NM_000548.4(TSC2):c.2261delC (p.Pro754Glnfs) http://identifiers.org/clinvar/49710 ^@ NM_000548.4(TSC2):c.2273C>T (p.Ser758Phe) http://identifiers.org/clinvar/49711 ^@ NM_000548.4(TSC2):c.2355+1G>A http://identifiers.org/clinvar/49713 ^@ NM_000548.4(TSC2):c.2355+2T>C http://identifiers.org/clinvar/49714 ^@ NM_000548.4(TSC2):c.2641T>C (p.Phe881Leu) http://identifiers.org/clinvar/49715 ^@ NM_000548.4(TSC2):c.2071delC (p.Arg691Alafs) http://identifiers.org/clinvar/49716 ^@ NM_000548.4(TSC2):c.2073C>T (p.Arg691=) http://identifiers.org/clinvar/49717 ^@ NM_000548.4(TSC2):c.2363T>G (p.Met788Arg) http://identifiers.org/clinvar/49718 ^@ NM_000548.4(TSC2):c.2838-4A>G http://identifiers.org/clinvar/49719 ^@ NM_000548.4(TSC2):c.2853A>T (p.Arg951Ser) http://identifiers.org/clinvar/49720 ^@ NM_000548.4(TSC2):c.2862A>G (p.Lys954=) http://identifiers.org/clinvar/49721 ^@ NM_000548.4(TSC2):c.1841C>A (p.Ala614Asp) http://identifiers.org/clinvar/49722 ^@ NM_000548.4(TSC2):c.109dupG (p.Glu37Glyfs) http://identifiers.org/clinvar/49723 ^@ NM_000548.4(TSC2):c.2669_2677delATCACGTCA (p.His890_Ile893delinsLeu) http://identifiers.org/clinvar/49724 ^@ NM_000548.4(TSC2):c.2677dupA (p.Ile893Asnfs) http://identifiers.org/clinvar/49725 ^@ NM_000548.4(TSC2):c.2410T>C (p.Cys804Arg) http://identifiers.org/clinvar/49726 ^@ NM_000548.4(TSC2):c.2415C>T (p.Val805=) http://identifiers.org/clinvar/49727 ^@ NM_000548.4(TSC2):c.2545+31C>T http://identifiers.org/clinvar/49728 ^@ NM_000548.4(TSC2):c.13A>G (p.Thr5Ala) http://identifiers.org/clinvar/49729 ^@ NM_000548.4(TSC2):c.1407delG (p.Ser470Profs) http://identifiers.org/clinvar/49730 ^@ NM_000548.4(TSC2):c.2098-1G>A http://identifiers.org/clinvar/49731 ^@ NM_000548.4(TSC2):c.2098-2A>G http://identifiers.org/clinvar/49732 ^@ NM_000548.4(TSC2):c.2098G>A (p.Glu700Lys) http://identifiers.org/clinvar/49733 ^@ NM_000548.4(TSC2):c.3098dupA (p.Tyr1033Terfs) http://identifiers.org/clinvar/49734 ^@ NM_000548.4(TSC2):c.3099C>A (p.Tyr1033Ter) http://identifiers.org/clinvar/49735 ^@ NM_000548.4(TSC2):c.3099C>G (p.Tyr1033Ter) http://identifiers.org/clinvar/49736 ^@ NM_000548.4(TSC2):c.2108G>A (p.Trp703Ter) http://identifiers.org/clinvar/49737 ^@ NM_000548.4(TSC2):c.2109G>A (p.Trp703Ter) http://identifiers.org/clinvar/49738 ^@ NM_000548.4(TSC2):c.268C>T (p.Gln90Ter) http://identifiers.org/clinvar/49739 ^@ NM_000548.4(TSC2):c.3126G>C (p.Pro1042=) http://identifiers.org/clinvar/49740 ^@ NM_000548.4(TSC2):c.3126G>T (p.Pro1042=) http://identifiers.org/clinvar/49741 ^@ NM_000548.4(TSC2):c.4083_4087delAGTCG (p.Val1362Leufs) http://identifiers.org/clinvar/49742 ^@ NM_000548.4(TSC2):c.1443+4C>T http://identifiers.org/clinvar/49743 ^@ NM_000548.4(TSC2):c.1443G>A (p.Glu481=) http://identifiers.org/clinvar/49744 ^@ NM_000548.4(TSC2):c.1444-13T>C http://identifiers.org/clinvar/49745 ^@ NM_000548.4(TSC2):c.2082G>T (p.Leu694=) http://identifiers.org/clinvar/49746 ^@ NM_000548.4(TSC2):c.2742+1G>A http://identifiers.org/clinvar/49747 ^@ NM_000548.4(TSC2):c.3131+34C>T http://identifiers.org/clinvar/49748 ^@ NM_000548.4(TSC2):c.3132-18A>T http://identifiers.org/clinvar/49749 ^@ NM_000548.4(TSC2):c.3132-1G>A http://identifiers.org/clinvar/49750 ^@ NM_000548.4(TSC2):c.2172_2176delTACTT (p.Thr725Profs) http://identifiers.org/clinvar/49751 ^@ NM_000548.4(TSC2):c.2477T>C (p.Leu826Pro) http://identifiers.org/clinvar/49752 ^@ NM_000548.4(TSC2):c.2489T>G (p.Leu830Arg) http://identifiers.org/clinvar/49753 ^@ NM_000548.4(TSC2):c.2491_2492insAT (p.Thr831Asnfs) http://identifiers.org/clinvar/49754 ^@ NM_000548.4(TSC2):c.3475C>T (p.Arg1159Trp) http://identifiers.org/clinvar/49755 ^@ NM_000548.4(TSC2):c.3476G>A (p.Arg1159Gln) http://identifiers.org/clinvar/49756 ^@ NM_000548.4(TSC2):c.2743-40A>G http://identifiers.org/clinvar/49758 ^@ NM_000548.4(TSC2):c.138+20C>G http://identifiers.org/clinvar/49759 ^@ NM_000548.4(TSC2):c.1117C>T (p.Gln373Ter) http://identifiers.org/clinvar/49760 ^@ NM_000548.4(TSC2):c.1119+1G>A http://identifiers.org/clinvar/49761 ^@ NM_000548.4(TSC2):c.1119+2T>G http://identifiers.org/clinvar/49762 ^@ NM_000548.4(TSC2):c.4726_4782del57 (p.Thr1576_Leu1594del) http://identifiers.org/clinvar/49763 ^@ NM_000548.4(TSC2):c.3535G>T (p.Glu1179Ter) http://identifiers.org/clinvar/49764 ^@ NM_000548.4(TSC2):c.3557A>G (p.Tyr1186Cys) http://identifiers.org/clinvar/49765 ^@ NM_000548.4(TSC2):c.3559delG (p.Val1187Cysfs) http://identifiers.org/clinvar/49766 ^@ NM_000548.4(TSC2):c.2765delT (p.Leu922Cysfs) http://identifiers.org/clinvar/49767 ^@ NM_000548.4(TSC2):c.2765dupT (p.Leu922Phefs) http://identifiers.org/clinvar/49768 ^@ NM_000548.4(TSC2):c.2768dupC (p.Asp925Terfs) http://identifiers.org/clinvar/49769 ^@ NM_000548.4(TSC2):c.357delC (p.Arg120Glufs) http://identifiers.org/clinvar/49770 ^@ NM_000548.4(TSC2):c.3598C>T (p.Arg1200Trp) http://identifiers.org/clinvar/49771 ^@ NM_000548.4(TSC2):c.4316dupG (p.Gln1440Profs) http://identifiers.org/clinvar/49772 ^@ NM_000548.4(TSC2):c.2978C>T (p.Thr993Met) http://identifiers.org/clinvar/49773 ^@ NM_000548.4(TSC2):c.2979G>A (p.Thr993=) http://identifiers.org/clinvar/49774 ^@ NM_000548.4(TSC2):c.1865G>A (p.Arg622Gln) http://identifiers.org/clinvar/49775 ^@ NM_000548.4(TSC2):c.1865G>C (p.Arg622Pro) http://identifiers.org/clinvar/49776 ^@ NM_000548.4(TSC2):c.3611-28C>A http://identifiers.org/clinvar/49777 ^@ NM_000548.4(TSC2):c.3997dupT (p.Tyr1333Leufs) http://identifiers.org/clinvar/49778 ^@ NM_000548.4(TSC2):c.4005+1G>T http://identifiers.org/clinvar/49779 ^@ NM_000548.4(TSC2):c.4005+2T>A http://identifiers.org/clinvar/49780 ^@ NM_000548.4(TSC2):c.2546-2A>G http://identifiers.org/clinvar/49781 ^@ NM_000548.4(TSC2):c.2784dupC (p.Glu929Argfs) http://identifiers.org/clinvar/49782 ^@ NM_000548.4(TSC2):c.2785G>T (p.Glu929Ter) http://identifiers.org/clinvar/49783 ^@ NM_000548.4(TSC2):c.4570-66G>A http://identifiers.org/clinvar/49784 ^@ NM_000548.4(TSC2):c.4570_4598dup29 (p.Leu1534Hisfs) http://identifiers.org/clinvar/49785 ^@ NM_000548.4(TSC2):c.3285-19C>T http://identifiers.org/clinvar/49786 ^@ NM_000548.4(TSC2):c.3298delG (p.Val1100Cysfs) http://identifiers.org/clinvar/49787 ^@ NM_000548.4(TSC2):c.1444-40G>A http://identifiers.org/clinvar/49788 ^@ NM_000548.4(TSC2):c.1457A>T (p.Asn486Ile) http://identifiers.org/clinvar/49789 ^@ NM_000548.4(TSC2):c.1794C>T (p.Tyr598=) http://identifiers.org/clinvar/49790 ^@ NM_000548.4(TSC2):c.1795delA (p.Lys599Serfs) http://identifiers.org/clinvar/49791 ^@ NM_000548.4(TSC2):c.4493+16C>G http://identifiers.org/clinvar/49792 ^@ NM_000548.4(TSC2):c.4663_4664delAG (p.Ser1555Glnfs) http://identifiers.org/clinvar/49793 ^@ NM_000548.4(TSC2):c.4667delA (p.Asn1556Thrfs) http://identifiers.org/clinvar/49794 ^@ NM_000548.4(TSC2):c.4672G>A (p.Glu1558Lys) http://identifiers.org/clinvar/49795 ^@ NM_000548.4(TSC2):c.3348_3349insAGCC (p.Gly1117Serfs) http://identifiers.org/clinvar/49796 ^@ NM_000548.4(TSC2):c.3350_3360delGGCAGCAGGTG (p.Gly1117Valfs) http://identifiers.org/clinvar/49797 ^@ NM_000548.4(TSC2):c.3352C>T (p.Gln1118Ter) http://identifiers.org/clinvar/49798 ^@ NM_000548.4(TSC2):c.4037C>A (p.Ser1346Ter) http://identifiers.org/clinvar/49799 ^@ NM_000548.4(TSC2):c.5020A>C (p.Thr1674Pro) http://identifiers.org/clinvar/49800 ^@ NM_000548.4(TSC2):c.4129C>T (p.Gln1377Ter) http://identifiers.org/clinvar/49801 ^@ NM_000548.4(TSC2):c.2583delC (p.Ala862Argfs) http://identifiers.org/clinvar/49802 ^@ NM_000548.4(TSC2):c.3214delA (p.Ser1072Alafs) http://identifiers.org/clinvar/49803 ^@ NM_000548.4(TSC2):c.3220_3221delGGinsC (p.Gly1074Glnfs) http://identifiers.org/clinvar/49804 ^@ NM_000548.4(TSC2):c.3230C>T (p.Thr1077Ile) http://identifiers.org/clinvar/49805 ^@ NM_000548.4(TSC2):c.4515C>A (p.Tyr1505Ter) http://identifiers.org/clinvar/49806 ^@ NM_000548.4(TSC2):c.4174C>T (p.Gln1392Ter) http://identifiers.org/clinvar/49807 ^@ NM_000548.4(TSC2):c.4174delC (p.Gln1392Argfs) http://identifiers.org/clinvar/49808 ^@ NM_000548.4(TSC2):c.4175_4176delAG (p.Gln1392Hisfs) http://identifiers.org/clinvar/49809 ^@ NM_000548.4(TSC2):c.336+32C>T http://identifiers.org/clinvar/49810 ^@ NM_000548.4(TSC2):c.336+33G>T http://identifiers.org/clinvar/49811 ^@ NM_000548.4(TSC2):c.3695delC (p.Ser1232Leufs) http://identifiers.org/clinvar/49812 ^@ NM_000548.4(TSC2):c.4219G>C (p.Val1407Leu) http://identifiers.org/clinvar/49813 ^@ NM_000548.4(TSC2):c.4223delG (p.Gly1408Alafs) http://identifiers.org/clinvar/49815 ^@ NM_000548.4(TSC2):c.2221-2A>G http://identifiers.org/clinvar/49816 ^@ NM_000548.4(TSC2):c.1942dupT (p.Tyr648Leufs) http://identifiers.org/clinvar/49817 ^@ NM_000548.4(TSC2):c.1944delC (p.Tyr648Terfs) http://identifiers.org/clinvar/49818 ^@ NM_000548.4(TSC2):c.4959C>T (p.Ser1653=) http://identifiers.org/clinvar/49819 ^@ NM_000548.4(TSC2):c.496C>T (p.Gln166Ter) http://identifiers.org/clinvar/49820 ^@ NM_000548.4(TSC2):c.4779C>G (p.Tyr1593Ter) http://identifiers.org/clinvar/49821 ^@ NM_000548.4(TSC2):c.4255C>T (p.Gln1419Ter) http://identifiers.org/clinvar/49822 ^@ NM_000548.4(TSC2):c.4255delC (p.Gln1419Serfs) http://identifiers.org/clinvar/49823 ^@ NM_000548.4(TSC2):c.4870delC (p.Leu1624Terfs) http://identifiers.org/clinvar/49824 ^@ NM_000548.4(TSC2):c.5137delC (p.Arg1713Alafs) http://identifiers.org/clinvar/49825 ^@ NM_000548.4(TSC2):c.481+5G>T http://identifiers.org/clinvar/49826 ^@ NM_000548.4(TSC2):c.482-1G>C http://identifiers.org/clinvar/49827 ^@ NM_000548.4(TSC2):c.482-2A>C http://identifiers.org/clinvar/49828 ^@ NM_000548.4(TSC2):c.3395C>A (p.Ser1132Ter) http://identifiers.org/clinvar/49829 ^@ NM_000548.4(TSC2):c.4355C>T (p.Ser1452Leu) http://identifiers.org/clinvar/49830 ^@ NM_000548.4(TSC2):c.4360A>G (p.Ser1454Gly) http://identifiers.org/clinvar/49831 ^@ NM_000548.4(TSC2):c.4371dupG (p.Pro1458Alafs) http://identifiers.org/clinvar/49832 ^@ NM_000548.4(TSC2):c.4821delC (p.Tyr1608Thrfs) http://identifiers.org/clinvar/49833 ^@ NM_000548.4(TSC2):c.4823_4825delACT (p.Tyr1608del) http://identifiers.org/clinvar/49834 ^@ NM_000548.4(TSC2):c.5227C>G (p.Arg1743Gly) http://identifiers.org/clinvar/49835 ^@ NM_000548.4(TSC2):c.3816G>A (p.Val1272=) http://identifiers.org/clinvar/49836 ^@ NM_000548.4(TSC2):c.4276G>T (p.Glu1426Ter) http://identifiers.org/clinvar/49837 ^@ NM_000548.4(TSC2):c.4279delA (p.Ser1427Valfs) http://identifiers.org/clinvar/49838 ^@ NM_000548.4(TSC2):c.4581dupT (p.Glu1528Terfs) http://identifiers.org/clinvar/49839 ^@ NM_000548.4(TSC2):c.4591delG (p.Val1531Cysfs) http://identifiers.org/clinvar/49840 ^@ NM_000548.4(TSC2):c.482_483delCT (p.Ala161Glyfs) http://identifiers.org/clinvar/49841 ^@ NM_000548.4(TSC2):c.4830G>A (p.Trp1610Ter) http://identifiers.org/clinvar/49842 ^@ NM_000548.4(TSC2):c.281delC (p.Pro94Argfs) http://identifiers.org/clinvar/49843 ^@ NM_000548.4(TSC2):c.2824G>T (p.Glu942Ter) http://identifiers.org/clinvar/49844 ^@ NM_000548.4(TSC2):c.2639+10C>T http://identifiers.org/clinvar/49845 ^@ NM_000548.4(TSC2):c.2639+1G>C http://identifiers.org/clinvar/49846 ^@ NM_000548.4(TSC2):c.538C>G (p.Leu180Val) http://identifiers.org/clinvar/49847 ^@ NM_000548.4(TSC2):c.5397G>C (p.Ser1799=) http://identifiers.org/clinvar/49848 ^@ NM_000548.4(TSC2):c.5161-1G>T http://identifiers.org/clinvar/49849 ^@ NM_000548.4(TSC2):c.4620C>G (p.Tyr1540Ter) http://identifiers.org/clinvar/49850 ^@ NM_000548.4(TSC2):c.4989+1dupG http://identifiers.org/clinvar/49851 ^@ NM_000548.4(TSC2):c.4990-6G>A http://identifiers.org/clinvar/49852 ^@ NM_000548.4(TSC2):c.5034C>G (p.Tyr1678Ter) http://identifiers.org/clinvar/49853 ^@ NM_000548.4(TSC2):c.5161-9C>A http://identifiers.org/clinvar/49854 ^@ NM_000548.4(TSC2):c.5161-9C>T http://identifiers.org/clinvar/49855 ^@ NM_000548.4(TSC2):c.3883+5C>T http://identifiers.org/clinvar/49856 ^@ NM_000548.4(TSC2):c.4569+12C>T http://identifiers.org/clinvar/49857 ^@ NM_000548.4(TSC2):c.4569+46C>T http://identifiers.org/clinvar/49858 ^@ NM_000548.4(TSC2):c.4569+47G>A http://identifiers.org/clinvar/49859 ^@ NM_000548.4(TSC2):c.5422_5423delTG (p.Ter1808Argfs) http://identifiers.org/clinvar/49860 ^@ NM_000548.4(TSC2):c.548T>A (p.Leu183Ter) http://identifiers.org/clinvar/49861 ^@ NM_000548.4(TSC2):c.560A>T (p.Asn187Ile) http://identifiers.org/clinvar/49862 ^@ NM_000548.3(TSC2):c.5068+27_5069-47dup34 http://identifiers.org/clinvar/49863 ^@ NM_000548.4(TSC2):c.4849+18C>T http://identifiers.org/clinvar/49864 ^@ NM_000548.4(TSC2):c.4849+1G>A http://identifiers.org/clinvar/49865 ^@ NM_000548.4(TSC2):c.4849+34C>T http://identifiers.org/clinvar/49866 ^@ NM_000548.4(TSC2):c.4661A>C (p.Gln1554Pro) http://identifiers.org/clinvar/49867 ^@ NM_000548.4(TSC2):c.5185C>T (p.Arg1729Cys) http://identifiers.org/clinvar/49868 ^@ NM_000548.4(TSC2):c.5069-1G>C http://identifiers.org/clinvar/49869 ^@ NM_000548.4(TSC2):c.5069-1G>T http://identifiers.org/clinvar/49870 ^@ NM_000548.4(TSC2):c.5069-21G>A http://identifiers.org/clinvar/49871 ^@ NM_000548.4(TSC2):c.3398-1G>A http://identifiers.org/clinvar/49872 ^@ NM_000548.4(TSC2):c.339delC (p.Glu114Serfs) http://identifiers.org/clinvar/49873 ^@ NM_000548.4(TSC2):c.307_315dupGCTCTGCTG (p.Leu105_Lys106insAlaLeuLeu) http://identifiers.org/clinvar/49874 ^@ NM_000548.4(TSC2):c.3080T>C (p.Leu1027Pro) http://identifiers.org/clinvar/49875 ^@ NM_000548.4(TSC2):c.925delC (p.Leu309Serfs) http://identifiers.org/clinvar/49876 ^@ NM_000548.4(TSC2):c.599+2T>G http://identifiers.org/clinvar/49877 ^@ NM_000548.4(TSC2):c.599+5G>A http://identifiers.org/clinvar/49878 ^@ NM_000548.4(TSC2):c.599+5G>C http://identifiers.org/clinvar/49879 ^@ NM_000548.4(TSC2):c.488_489delTT (p.Phe163Cysfs) http://identifiers.org/clinvar/49880 ^@ NM_000548.4(TSC2):c.4906G>A (p.Asp1636Asn) http://identifiers.org/clinvar/49881 ^@ NM_000548.4(TSC2):c.4909_4910delAA (p.Lys1637Glufs) http://identifiers.org/clinvar/49882 ^@ NM_000548.4(TSC2):c.603G>C (p.Met201Ile) http://identifiers.org/clinvar/49883 ^@ NM_000548.4(TSC2):c.618C>A (p.Cys206Ter) http://identifiers.org/clinvar/49884 ^@ NM_000548.4(TSC2):c.648+117C>G http://identifiers.org/clinvar/49885 ^@ NM_000548.4(TSC2):c.5148C>T (p.Ala1716=) http://identifiers.org/clinvar/49886 ^@ NM_000548.4(TSC2):c.4406C>A (p.Ser1469Ter) http://identifiers.org/clinvar/49887 ^@ NM_000548.4(TSC2):c.440_441delCA (p.Thr147Argfs) http://identifiers.org/clinvar/49889 ^@ NM_000548.4(TSC2):c.975+5G>T http://identifiers.org/clinvar/49890 ^@ NM_000548.4(TSC2):c.975+8G>A http://identifiers.org/clinvar/49891 ^@ NM_000548.4(TSC2):c.680G>A (p.Cys227Tyr) http://identifiers.org/clinvar/49892 ^@ NM_000548.4(TSC2):c.681C>T (p.Cys227=) http://identifiers.org/clinvar/49893 ^@ NM_000548.4(TSC2):c.4912_4914delAAG (p.Lys1638del) http://identifiers.org/clinvar/49894 ^@ NM_000548.4(TSC2):c.4914G>C (p.Lys1638Asn) http://identifiers.org/clinvar/49895 ^@ NM_000548.4(TSC2):c.5202T>C (p.Asp1734=) http://identifiers.org/clinvar/49896 ^@ NM_000548.4(TSC2):c.730T>C (p.Cys244Arg) http://identifiers.org/clinvar/49897 ^@ NM_000548.4(TSC2):c.731G>A (p.Cys244Tyr) http://identifiers.org/clinvar/49898 ^@ NM_000548.4(TSC2):c.429C>G (p.Phe143Leu) http://identifiers.org/clinvar/49899 ^@ NM_000548.4(TSC2):c.4302C>T (p.Gly1434=) http://identifiers.org/clinvar/49900 ^@ NM_000548.4(TSC2):c.3884-56C>G http://identifiers.org/clinvar/49901 ^@ NM_000548.4(TSC2):c.600-13G>C http://identifiers.org/clinvar/49902 ^@ NM_000548.4(TSC2):c.600-1G>A http://identifiers.org/clinvar/49903 ^@ NM_000548.4(TSC2):c.600-2A>G http://identifiers.org/clinvar/49904 ^@ NM_000548.4(TSC2):c.976-3C>G http://identifiers.org/clinvar/49905 ^@ NM_000548.4(TSC2):c.976-40G>A http://identifiers.org/clinvar/49906 ^@ NM_000548.4(TSC2):c.976-63G>A http://identifiers.org/clinvar/49907 ^@ NM_000548.4(TSC2):c.667G>T (p.Asp223Tyr) http://identifiers.org/clinvar/49908 ^@ NM_000548.4(TSC2):c.672delC (p.Val225Trpfs) http://identifiers.org/clinvar/49909 ^@ NM_000548.4(TSC2):c.720C>T (p.Ile240=) http://identifiers.org/clinvar/49910 ^@ NM_000548.4(TSC2):c.4927A>C (p.Asn1643His) http://identifiers.org/clinvar/49911 ^@ NM_000548.4(TSC2):c.4928A>T (p.Asn1643Ile) http://identifiers.org/clinvar/49912 ^@ NM_000548.4(TSC2):c.5116C>T (p.Arg1706Cys) http://identifiers.org/clinvar/49913 ^@ NM_000548.4(TSC2):c.5116dupC (p.Arg1706Profs) http://identifiers.org/clinvar/49914 ^@ NM_000548.4(TSC2):c.759C>A (p.Cys253Ter) http://identifiers.org/clinvar/49915 ^@ NM_000548.4(TSC2):c.760G>T (p.Glu254Ter) http://identifiers.org/clinvar/49916 ^@ NM_000548.4(TSC2):c.774+1G>C http://identifiers.org/clinvar/49917 ^@ NM_000548.4(TSC2):c.774+28G>C http://identifiers.org/clinvar/49918 ^@ NM_000548.4(TSC2):c.768C>A (p.Cys256Ter) http://identifiers.org/clinvar/49919 ^@ NM_000548.4(TSC2):c.774+1G>A http://identifiers.org/clinvar/49920 ^@ NM_000548.4(TSC2):c.5318A>C (p.His1773Pro) http://identifiers.org/clinvar/49921 ^@ NM_000548.4(TSC2):c.791T>C (p.Leu264Pro) http://identifiers.org/clinvar/49922 ^@ NM_000548.4(TSC2):c.848+1G>A http://identifiers.org/clinvar/49923 ^@ NM_000548.4(TSC2):c.848+281C>T http://identifiers.org/clinvar/49924 ^@ NM_000548.4(TSC2):c.848+39G>T http://identifiers.org/clinvar/49925 ^@ NM_000548.4(TSC2):c.4432G>C (p.Asp1478His) http://identifiers.org/clinvar/49926 ^@ NM_000548.4(TSC2):c.4439T>A (p.Leu1480Ter) http://identifiers.org/clinvar/49927 ^@ NM_000548.4(TSC2):c.4854C>T (p.Val1618=) http://identifiers.org/clinvar/49928 ^@ NM_000548.4(TSC2):c.4854delC (p.Phe1619Serfs) http://identifiers.org/clinvar/49929 ^@ NM_000548.4(TSC2):c.5126C>T (p.Pro1709Leu) http://identifiers.org/clinvar/49930 ^@ NM_000548.4(TSC2):c.5138G>A (p.Arg1713His) http://identifiers.org/clinvar/49931 ^@ NM_000548.4(TSC2):c.5138G>C (p.Arg1713Pro) http://identifiers.org/clinvar/49932 ^@ NM_000548.4(TSC2):c.871dupC (p.Leu291Profs) http://identifiers.org/clinvar/49933 ^@ NM_000548.4(TSC2):c.875T>C (p.Leu292Pro) http://identifiers.org/clinvar/49934 ^@ NM_000548.4(TSC2):c.889_890delTTinsA (p.Phe297Ilefs) http://identifiers.org/clinvar/49935 ^@ NM_000548.4(TSC2):c.894dupT (p.Val299Cysfs) http://identifiers.org/clinvar/49936 ^@ NM_000548.4(TSC2):c.5159delA (p.Asn1720Ilefs) http://identifiers.org/clinvar/49937 ^@ NM_000548.4(TSC2):c.5160+37C>T http://identifiers.org/clinvar/49938 ^@ NM_000548.4(TSC2):c.5160+3G>C http://identifiers.org/clinvar/49939 ^@ NM_000548.4(TSC2):c.5160+43C>T http://identifiers.org/clinvar/49940 ^@ NM_000548.4(TSC2):c.5376G>C (p.Gln1792His) http://identifiers.org/clinvar/49941 ^@ NM_000548.4(TSC2):c.5378G>A (p.Arg1793Gln) http://identifiers.org/clinvar/49942 ^@ NM_000548.4(TSC2):c.5379_5381dupGAA (p.Lys1794_Arg1795insLys) http://identifiers.org/clinvar/49943 ^@ NM_000548.4(TSC2):c.5161-1G>A http://identifiers.org/clinvar/49944 ^@ NM_000548.4(TSC2):c.5161-1G>C http://identifiers.org/clinvar/49945 ^@ NM_000548.4(TSC2):c.5161-28_5161-25del http://identifiers.org/clinvar/49946 ^@ NM_000548.4(TSC2):c.972C>A (p.Tyr324Ter) http://identifiers.org/clinvar/49947 ^@ NM_000548.4(TSC2):c.972C>G (p.Tyr324Ter) http://identifiers.org/clinvar/49948 ^@ NM_000548.4(TSC2):c.975+1G>A http://identifiers.org/clinvar/49949 ^@ NM_000548.4(TSC2):c.5167T>C (p.Ser1723Pro) http://identifiers.org/clinvar/49950 ^@ NM_000548.4(TSC2):c.5170C>T (p.Gln1724Ter) http://identifiers.org/clinvar/49951 ^@ NM_000548.4(TSC2):c.5195_5196insTGCA (p.Thr1733Alafs) http://identifiers.org/clinvar/49952 ^@ NM_000548.4(TSC2):c.5197_5212del16 (p.Thr1733Profs) http://identifiers.org/clinvar/49953 ^@ NM_000548.4(TSC2):c.586G>A (p.Ala196Thr) http://identifiers.org/clinvar/49954 ^@ NM_000548.4(TSC2):c.589dupA (p.Arg197Lysfs) http://identifiers.org/clinvar/49955 ^@ NM_000548.4(TSC2):c.591delG (p.Met198Trpfs) http://identifiers.org/clinvar/49956 ^@ NM_000548.4(TSC2):c.4735G>A (p.Gly1579Ser) http://identifiers.org/clinvar/49957 ^@ NM_000548.4(TSC2):c.482-3C>T http://identifiers.org/clinvar/49958 ^@ NM_000548.4(TSC2):c.482-68C>G http://identifiers.org/clinvar/49959 ^@ NM_000548.4(TSC2):c.4825_4831delTGCTGGC (p.Cys1609Thrfs) http://identifiers.org/clinvar/49960 ^@ NM_000548.4(TSC2):c.5228G>A (p.Arg1743Gln) http://identifiers.org/clinvar/49961 ^@ NM_000548.4(TSC2):c.5228G>C (p.Arg1743Pro) http://identifiers.org/clinvar/49962 ^@ NM_000548.4(TSC2):c.5231T>C (p.Leu1744Pro) http://identifiers.org/clinvar/49963 ^@ NM_000548.4(TSC2):c.4849+12C>T http://identifiers.org/clinvar/49964 ^@ NM_000548.4(TSC2):c.4850-19C>G http://identifiers.org/clinvar/49965 ^@ NM_000548.4(TSC2):c.4850-1G>A http://identifiers.org/clinvar/49966 ^@ NM_000548.4(TSC2):c.4852_4860delGTCTTCCAC (p.Val1618_His1620del) http://identifiers.org/clinvar/49967 ^@ NM_000548.4(TSC2):c.982G>C (p.Ala328Pro) http://identifiers.org/clinvar/49968 ^@ NM_000548.4(TSC2):c.993C>A (p.Asn331Lys) http://identifiers.org/clinvar/49969 ^@ NM_000548.4(TSC2):c.993C>T (p.Asn331=) http://identifiers.org/clinvar/49970 ^@ NM_000548.4(TSC2):c.848+3delG http://identifiers.org/clinvar/49972 ^@ NM_000548.4(TSC2):c.4887C>T (p.Asp1629=) http://identifiers.org/clinvar/49973 ^@ NM_000548.4(TSC2):c.4889_4989+135del http://identifiers.org/clinvar/49974 ^@ NM_000548.4(TSC2):c.4909_4920delAAGAAGCGCCAC (p.Lys1637_His1640del) http://identifiers.org/clinvar/49975 ^@ NM_000548.4(TSC2):c.5260-15C>T http://identifiers.org/clinvar/49976 ^@ NM_000548.4(TSC2):c.5260-25C>G http://identifiers.org/clinvar/49977 ^@ NM_000548.4(TSC2):c.5260-42C>T http://identifiers.org/clinvar/49978 ^@ NM_000548.4(TSC2):c.4925G>A (p.Gly1642Asp) http://identifiers.org/clinvar/49979 ^@ NM_000548.4(TSC2):c.4929C>G (p.Asn1643Lys) http://identifiers.org/clinvar/49980 ^@ NM_000548.4(TSC2):c.4930G>C (p.Asp1644His) http://identifiers.org/clinvar/49981 ^@ NM_000548.4(TSC2):c.4934_4935delTT (p.Phe1645Cysfs) http://identifiers.org/clinvar/49982 ^@ NM_000548.4(TSC2):c.774G>C (p.Lys258Asn) http://identifiers.org/clinvar/49983 ^@ NM_000548.4(TSC2):c.775-17C>A http://identifiers.org/clinvar/49984 ^@ NM_000548.4(TSC2):c.775-1G>A http://identifiers.org/clinvar/49985 ^@ NM_000548.4(TSC2):c.5160_5160+1delTG http://identifiers.org/clinvar/49986 ^@ NM_000548.4(TSC2):c.4375C>T (p.Arg1459Ter) http://identifiers.org/clinvar/49987 ^@ NM_000548.4(TSC2):c.4397C>A (p.Ser1466Ter) http://identifiers.org/clinvar/49989 ^@ NM_000548.4(TSC2):c.4971delC (p.Phe1657Leufs) http://identifiers.org/clinvar/49990 ^@ NM_000548.4(TSC2):c.4974G>A (p.Lys1658=) http://identifiers.org/clinvar/49991 ^@ NM_000548.4(TSC2):c.4975C>T (p.Leu1659Phe) http://identifiers.org/clinvar/49992 ^@ NM_000548.4(TSC2):c.4989+1G>T http://identifiers.org/clinvar/49993 ^@ NM_000548.4(TSC2):c.4450_4451delGC (p.Ala1484Hisfs) http://identifiers.org/clinvar/49994 ^@ NM_000548.4(TSC2):c.4472_4474delAAGinsTT (p.Lys1491Ilefs) http://identifiers.org/clinvar/49995 ^@ NM_000548.4(TSC2):c.4493+17C>T http://identifiers.org/clinvar/49996 ^@ NM_000548.4(TSC2):c.4493+18G>A http://identifiers.org/clinvar/49997 ^@ NM_000548.4(TSC2):c.5365G>C (p.Glu1789Gln) http://identifiers.org/clinvar/49998 ^@ NM_000548.4(TSC2):c.5371G>A (p.Gly1791Ser) http://identifiers.org/clinvar/49999 ^@ NM_000548.4(TSC2):c.4516delC (p.His1506Ilefs) http://identifiers.org/clinvar/50000 ^@ NM_000548.4(TSC2):c.451A>T (p.Arg151Ter) http://identifiers.org/clinvar/50001 ^@ NM_000548.4(TSC2):c.4delG (p.Ala2Profs) http://identifiers.org/clinvar/50002 ^@ NM_000548.4(TSC2):c.5025G>A (p.Pro1675=) http://identifiers.org/clinvar/50003 ^@ NM_000548.4(TSC2):c.5025delG (p.Leu1676Trpfs) http://identifiers.org/clinvar/50004 ^@ NM_000548.4(TSC2):c.5028G>A (p.Leu1676=) http://identifiers.org/clinvar/50005 ^@ NM_000548.4(TSC2):c.4568delA (p.Glu1523Glyfs) http://identifiers.org/clinvar/50006 ^@ NM_000548.4(TSC2):c.4569+50T>A http://identifiers.org/clinvar/50007 ^@ NM_000548.4(TSC2):c.4569+7G>C http://identifiers.org/clinvar/50008 ^@ NM_000548.4(TSC2):c.4570-12T>A http://identifiers.org/clinvar/50009 ^@ NM_000548.4(TSC2):c.856A>G (p.Met286Val) http://identifiers.org/clinvar/50010 ^@ NM_000548.4(TSC2):c.857T>C (p.Met286Thr) http://identifiers.org/clinvar/50011 ^@ NM_000548.4(TSC2):c.879_880delAG (p.Gly294Serfs) http://identifiers.org/clinvar/50012 ^@ NM_000548.4(TSC2):c.3685_3700del16 (p.Gln1229Profs) http://identifiers.org/clinvar/50013 ^@ NM_000548.4(TSC2):c.3693_3696delGTCT (p.Ser1232Thrfs) http://identifiers.org/clinvar/50014 ^@ NM_000548.4(TSC2):c.3705delC (p.Met1236Trpfs) http://identifiers.org/clinvar/50015 ^@ NM_000548.4(TSC2):c.3718C>T (p.Arg1240Cys) http://identifiers.org/clinvar/50016 ^@ NM_000548.4(TSC2):c.4603G>T (p.Asp1535Tyr) http://identifiers.org/clinvar/50017 ^@ NM_000548.4(TSC2):c.4603_4605delGAC (p.Asp1535del) http://identifiers.org/clinvar/50018 ^@ NM_000548.4(TSC2):c.4630_4638delAAGATCGCCinsCGTCGTGG (p.Lys1544Argfs) http://identifiers.org/clinvar/50019 ^@ NM_000548.4(TSC2):c.4638C>T (p.Ala1546=) http://identifiers.org/clinvar/50020 ^@ NM_000548.4(TSC2):c.3793C>T (p.Pro1265Ser) http://identifiers.org/clinvar/50023 ^@ NM_000548.4(TSC2):c.3815-15G>A http://identifiers.org/clinvar/50026 ^@ NM_000548.4(TSC2):c.5068+1G>A http://identifiers.org/clinvar/50027 ^@ NM_000548.4(TSC2):c.3883+8C>G http://identifiers.org/clinvar/50028 ^@ NM_000548.4(TSC2):c.3884-51C>A http://identifiers.org/clinvar/50029 ^@ NM_000548.4(TSC2):c.3884-51C>G http://identifiers.org/clinvar/50030 ^@ NM_000548.4(TSC2):c.4662+18G>A http://identifiers.org/clinvar/50031 ^@ NM_000548.4(TSC2):c.4662+1G>A http://identifiers.org/clinvar/50032 ^@ NM_000548.4(TSC2):c.4662+41G>C http://identifiers.org/clinvar/50033 ^@ NM_000548.4(TSC2):c.3924dupT (p.Pro1309Serfs) http://identifiers.org/clinvar/50034 ^@ NM_000548.4(TSC2):c.395C>G (p.Ser132Cys) http://identifiers.org/clinvar/50035 ^@ NM_000548.4(TSC2):c.3984delG (p.Arg1328Serfs) http://identifiers.org/clinvar/50036 ^@ NM_000548.4(TSC2):c.5420_5423delTGTG (p.Val1807Glufs) http://identifiers.org/clinvar/50037 ^@ NM_000548.3(TSC2):c.567_568dup (p.Tyr190Phefs) http://identifiers.org/clinvar/50038 ^@ NM_000548.4(TSC2):c.569dupA (p.Tyr190Terfs) http://identifiers.org/clinvar/50039 ^@ NM_000548.4(TSC2):c.577G>T (p.Glu193Ter) http://identifiers.org/clinvar/50040 ^@ NM_000548.4(TSC2):c.3097T>C (p.Tyr1033His) http://identifiers.org/clinvar/50041 ^@ NM_000548.4(TSC2):c.3099delC (p.Tyr1033Terfs) http://identifiers.org/clinvar/50042 ^@ NM_000548.4(TSC2):c.309T>G (p.Ala103=) http://identifiers.org/clinvar/50043 ^@ NM_000548.4(TSC2):c.3106T>C (p.Ser1036Pro) http://identifiers.org/clinvar/50044 ^@ NM_000548.3(TSC2):c.4034_4035insCTTA (p.Lys1345Asnfs) http://identifiers.org/clinvar/50045 ^@ NM_000548.4(TSC2):c.4047G>A (p.Ala1349=) http://identifiers.org/clinvar/50046 ^@ NM_000548.4(TSC2):c.404_407dupACCT (p.His137Profs) http://identifiers.org/clinvar/50047 ^@ NM_000548.4(TSC2):c.4067delG (p.Gly1356Alafs) http://identifiers.org/clinvar/50048 ^@ NM_000548.4(TSC2):c.3132-2A>C http://identifiers.org/clinvar/50049 ^@ NM_000548.4(TSC2):c.3132-30A>G http://identifiers.org/clinvar/50050 ^@ NM_000548.4(TSC2):c.3198dupT (p.Val1067Cysfs) http://identifiers.org/clinvar/50051 ^@ NM_000548.4(TSC2):c.4677C>G (p.Leu1559=) http://identifiers.org/clinvar/50052 ^@ NM_000548.4(TSC2):c.4685T>C (p.Leu1562Pro) http://identifiers.org/clinvar/50053 ^@ NM_000548.4(TSC2):c.4689C>T (p.Ser1563=) http://identifiers.org/clinvar/50054 ^@ NM_000548.4(TSC2):c.4700G>A (p.Gly1567Asp) http://identifiers.org/clinvar/50055 ^@ NM_000548.4(TSC2):c.3254C>A (p.Ser1085Ter) http://identifiers.org/clinvar/50056 ^@ NM_000548.4(TSC2):c.3259dupG (p.Glu1087Glyfs) http://identifiers.org/clinvar/50057 ^@ NM_000548.4(TSC2):c.3284+1G>A http://identifiers.org/clinvar/50058 ^@ NM_000548.4(TSC2):c.3284G>A (p.Ser1095Asn) http://identifiers.org/clinvar/50059 ^@ NM_000548.4(TSC2):c.4164_4165delTC (p.Pro1389Argfs) http://identifiers.org/clinvar/50060 ^@ NM_000548.4(TSC2):c.4167C>T (p.Pro1389=) http://identifiers.org/clinvar/50061 ^@ NM_000548.4(TSC2):c.4180_4181delCT (p.Leu1394Alafs) http://identifiers.org/clinvar/50062 ^@ NM_000548.4(TSC2):c.4195G>A (p.Gly1399Arg) http://identifiers.org/clinvar/50063 ^@ NM_000548.4(TSC2):c.3355C>T (p.Gln1119Ter) http://identifiers.org/clinvar/50064 ^@ NM_000548.4(TSC2):c.336+1G>A http://identifiers.org/clinvar/50065 ^@ NM_000548.4(TSC2):c.336+2T>G http://identifiers.org/clinvar/50066 ^@ NM_000548.4(TSC2):c.5069-2A>G http://identifiers.org/clinvar/50067 ^@ NM_000548.4(TSC2):c.5075_5078delAGGG (p.Glu1692Alafs) http://identifiers.org/clinvar/50068 ^@ NM_000548.4(TSC2):c.5106C>A (p.Ile1702=) http://identifiers.org/clinvar/50069 ^@ NM_000548.4(TSC2):c.5108T>G (p.Val1703Gly) http://identifiers.org/clinvar/50070 ^@ NM_000548.4(TSC2):c.2539dupC (p.Leu847Profs) http://identifiers.org/clinvar/50071 ^@ NM_000548.4(TSC2):c.2540T>C (p.Leu847Pro) http://identifiers.org/clinvar/50072 ^@ NM_000548.4(TSC2):c.2545+45T>A http://identifiers.org/clinvar/50073 ^@ NM_000548.4(TSC2):c.2545+6T>G http://identifiers.org/clinvar/50074 ^@ NM_000548.4(TSC2):c.3397+2T>G http://identifiers.org/clinvar/50075 ^@ NM_000548.4(TSC2):c.3397+5G>A http://identifiers.org/clinvar/50076 ^@ NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) http://identifiers.org/clinvar/50077 ^@ NM_000548.4(TSC2):c.2549T>C (p.Leu850Pro) http://identifiers.org/clinvar/50078 ^@ NM_000548.4(TSC2):c.2585C>T (p.Ala862Val) http://identifiers.org/clinvar/50079 ^@ NM_000548.4(TSC2):c.258_283del26 (p.Asp87Glyfs) http://identifiers.org/clinvar/50080 ^@ NM_000548.4(TSC2):c.2590C>T (p.Gln864Ter) http://identifiers.org/clinvar/50081 ^@ NM_000548.4(TSC2):c.4244dupA (p.Ala1416Glyfs) http://identifiers.org/clinvar/50083 ^@ NM_000548.4(TSC2):c.4258_4261delTCAG (p.Ser1420Glyfs) http://identifiers.org/clinvar/50084 ^@ NM_000548.4(TSC2):c.2639+44C>G http://identifiers.org/clinvar/50085 ^@ NM_000548.4(TSC2):c.2640-26G>T http://identifiers.org/clinvar/50086 ^@ NM_000548.4(TSC2):c.2640-2A>T http://identifiers.org/clinvar/50087 ^@ NM_000548.4(TSC2):c.3442C>T (p.Gln1148Ter) http://identifiers.org/clinvar/50088 ^@ NM_000548.4(TSC2):c.3451G>A (p.Gly1151Ser) http://identifiers.org/clinvar/50089 ^@ NM_000548.4(TSC2):c.3476G>T (p.Arg1159Leu) http://identifiers.org/clinvar/50090 ^@ NM_000548.4(TSC2):c.3491C>T (p.Ala1164Val) http://identifiers.org/clinvar/50091 ^@ NM_000548.4(TSC2):c.2683A>G (p.Met895Val) http://identifiers.org/clinvar/50092 ^@ NM_000548.4(TSC2):c.2687G>A (p.Trp896Ter) http://identifiers.org/clinvar/50093 ^@ NM_000548.4(TSC2):c.2700C>A (p.Cys900Ter) http://identifiers.org/clinvar/50094 ^@ NM_000548.4(TSC2):c.2709dupC (p.Phe904Leufs) http://identifiers.org/clinvar/50095 ^@ NM_000548.4(TSC2):c.4733T>C (p.Leu1578Pro) http://identifiers.org/clinvar/50096 ^@ NM_000548.4(TSC2):c.4751T>G (p.Leu1584Arg) http://identifiers.org/clinvar/50097 ^@ NM_000548.4(TSC2):c.4762C>T (p.Gln1588Ter) http://identifiers.org/clinvar/50098 ^@ NM_000548.4(TSC2):c.4774delG (p.Val1592Cysfs) http://identifiers.org/clinvar/50099 ^@ NM_000548.4(TSC2):c.1987dupC (p.Leu663Profs) http://identifiers.org/clinvar/50100 ^@ NM_000548.4(TSC2):c.201C>T (p.Val67=) http://identifiers.org/clinvar/50101 ^@ NM_000548.4(TSC2):c.205A>T (p.Lys69Ter) http://identifiers.org/clinvar/50102 ^@ NM_000548.4(TSC2):c.2742+1G>T http://identifiers.org/clinvar/50103 ^@ NM_000548.4(TSC2):c.2742G>A (p.Lys914=) http://identifiers.org/clinvar/50104 ^@ NM_000548.4(TSC2):c.2742G>C (p.Lys914Asn) http://identifiers.org/clinvar/50105 ^@ NM_000548.4(TSC2):c.2086T>C (p.Cys696Arg) http://identifiers.org/clinvar/50106 ^@ NM_000548.4(TSC2):c.2087G>A (p.Cys696Tyr) http://identifiers.org/clinvar/50107 ^@ NM_000548.4(TSC2):c.2087_2088insAA (p.Cys696Terfs) http://identifiers.org/clinvar/50108 ^@ NM_000548.4(TSC2):c.3565dupC (p.Leu1189Profs) http://identifiers.org/clinvar/50109 ^@ NM_000548.4(TSC2):c.3574C>T (p.Gln1192Ter) http://identifiers.org/clinvar/50110 ^@ NM_000548.4(TSC2):c.3574delC (p.Gln1192Argfs) http://identifiers.org/clinvar/50111 ^@ NM_000548.4(TSC2):c.2103_2105dupTGA (p.Asp702_Trp703insAsp) http://identifiers.org/clinvar/50112 ^@ NM_000548.4(TSC2):c.2103dupT (p.Asp702Terfs) http://identifiers.org/clinvar/50113 ^@ NM_000548.4(TSC2):c.2142_2157del16 (p.Glu715Lysfs) http://identifiers.org/clinvar/50114 ^@ NM_000548.4(TSC2):c.2747T>G (p.Leu916Arg) http://identifiers.org/clinvar/50115 ^@ NM_000548.4(TSC2):c.274delG (p.Glu92Serfs) http://identifiers.org/clinvar/50116 ^@ NM_000548.4(TSC2):c.275A>T (p.Glu92Val) http://identifiers.org/clinvar/50117 ^@ NM_000548.4(TSC2):c.2774_2777delATGAinsTC (p.Asp925Valfs) http://identifiers.org/clinvar/50118 ^@ NM_000548.4(TSC2):c.2194C>T (p.Gln732Ter) http://identifiers.org/clinvar/50119 ^@ NM_000548.4(TSC2):c.2198T>C (p.Leu733Pro) http://identifiers.org/clinvar/50120 ^@ NM_000548.4(TSC2):c.2220+1G>T http://identifiers.org/clinvar/50121 ^@ NM_000548.4(TSC2):c.2220+32delG http://identifiers.org/clinvar/50122 ^@ NM_000548.4(TSC2):c.4308C>T (p.Asp1436=) http://identifiers.org/clinvar/50124 ^@ NM_000548.4(TSC2):c.4313G>A (p.Arg1438Gln) http://identifiers.org/clinvar/50125 ^@ NM_000548.4(TSC2):c.4324G>A (p.Glu1442Lys) http://identifiers.org/clinvar/50126 ^@ NM_000548.4(TSC2):c.1444-14T>C http://identifiers.org/clinvar/50127 ^@ NM_000548.4(TSC2):c.1444-1G>A http://identifiers.org/clinvar/50128 ^@ NM_000548.4(TSC2):c.1444-1G>T http://identifiers.org/clinvar/50129 ^@ NM_000548.4(TSC2):c.2233_2234delAA (p.Lys745Aspfs) http://identifiers.org/clinvar/50130 ^@ NM_000548.4(TSC2):c.225+31_225+32del http://identifiers.org/clinvar/50131 ^@ NM_000548.4(TSC2):c.2251C>T (p.Arg751Ter) http://identifiers.org/clinvar/50132 ^@ NM_000548.4(TSC2):c.1555delT (p.Cys519Alafs) http://identifiers.org/clinvar/50133 ^@ NM_000548.4(TSC2):c.1563dupA (p.His522Thrfs) http://identifiers.org/clinvar/50134 ^@ NM_000548.4(TSC2):c.280C>A (p.Pro94Thr) http://identifiers.org/clinvar/50135 ^@ NM_000548.4(TSC2):c.2837+11dupC http://identifiers.org/clinvar/50136 ^@ NM_000548.4(TSC2):c.2837+1G>T http://identifiers.org/clinvar/50137 ^@ NM_000548.4(TSC2):c.2837+80C>T http://identifiers.org/clinvar/50138 ^@ NM_000548.4(TSC2):c.1599G>C (p.Lys533Asn) http://identifiers.org/clinvar/50139 ^@ NM_000548.4(TSC2):c.1600-14C>T http://identifiers.org/clinvar/50140 ^@ NM_000548.4(TSC2):c.1600-21G>C http://identifiers.org/clinvar/50141 ^@ NM_000548.4(TSC2):c.2338delC (p.Leu780Trpfs) http://identifiers.org/clinvar/50142 ^@ NM_000548.4(TSC2):c.2347delA (p.Thr783Profs) http://identifiers.org/clinvar/50143 ^@ NM_000548.4(TSC2):c.2353C>T (p.Gln785Ter) http://identifiers.org/clinvar/50144 ^@ NM_000548.4(TSC2):c.1649_1650insACAT (p.Ala551Hisfs) http://identifiers.org/clinvar/50145 ^@ NM_000548.4(TSC2):c.1661C>A (p.Ser554Ter) http://identifiers.org/clinvar/50146 ^@ NM_000548.4(TSC2):c.1716+16G>A http://identifiers.org/clinvar/50147 ^@ NM_000548.4(TSC2):c.1716+1G>A http://identifiers.org/clinvar/50148 ^@ NM_000548.4(TSC2):c.3611G>A (p.Gly1204Glu) http://identifiers.org/clinvar/50149 ^@ NM_000548.4(TSC2):c.3611_3627dup17 (p.Met1210Glyfs) http://identifiers.org/clinvar/50150 ^@ NM_000548.4(TSC2):c.3643_3644insTG (p.Pro1215Leufs) http://identifiers.org/clinvar/50151 ^@ NM_000548.4(TSC2):c.1737_1814del78 (p.Ala580_Pro605del) http://identifiers.org/clinvar/50152 ^@ NM_000548.4(TSC2):c.1741dupA (p.Ser581Lysfs) http://identifiers.org/clinvar/50153 ^@ NM_000548.4(TSC2):c.1742G>A (p.Ser581Asn) http://identifiers.org/clinvar/50154 ^@ NM_000548.4(TSC2):c.1771delG (p.Val591Serfs) http://identifiers.org/clinvar/50155 ^@ NM_000548.4(TSC2):c.2363_2377delTGGTCTACTGCCTGGinsC (p.Met788Thrfs) http://identifiers.org/clinvar/50156 ^@ NM_000548.4(TSC2):c.2370C>G (p.Tyr790Ter) http://identifiers.org/clinvar/50157 ^@ NM_000548.4(TSC2):c.2375T>C (p.Leu792Pro) http://identifiers.org/clinvar/50158 ^@ NM_000548.4(TSC2):c.2399dupG (p.Cys800Trpfs) http://identifiers.org/clinvar/50159 ^@ NM_000548.4(TSC2):c.1093_1095delATC (p.Ile365del) http://identifiers.org/clinvar/50160 ^@ NM_000548.4(TSC2):c.1094_1095delTC (p.Ile365Argfs) http://identifiers.org/clinvar/50161 ^@ NM_000548.4(TSC2):c.1101G>A (p.Arg367=) http://identifiers.org/clinvar/50162 ^@ NM_000548.4(TSC2):c.1793A>G (p.Tyr598Cys) http://identifiers.org/clinvar/50163 ^@ NM_000548.4(TSC2):c.1794C>G (p.Tyr598Ter) http://identifiers.org/clinvar/50164 ^@ NM_000548.4(TSC2):c.1133C>T (p.Pro378Leu) http://identifiers.org/clinvar/50165 ^@ NM_000548.4(TSC2):c.1135delG (p.Glu379Serfs) http://identifiers.org/clinvar/50166 ^@ NM_000548.4(TSC2):c.114delT (p.Phe38Leufs) http://identifiers.org/clinvar/50167 ^@ NM_000548.4(TSC2):c.1160_1167delTGTTGACC (p.Leu387Hisfs) http://identifiers.org/clinvar/50168 ^@ NM_000548.4(TSC2):c.2983_2990dupCTCACCAG (p.Ala998Serfs) http://identifiers.org/clinvar/50169 ^@ NM_000548.4(TSC2):c.299_300dupCG (p.Val101Argfs) http://identifiers.org/clinvar/50170 ^@ NM_000548.4(TSC2):c.300G>A (p.Ala100=) http://identifiers.org/clinvar/50171 ^@ NM_000548.4(TSC2):c.3037G>A (p.Asp1013Asn) http://identifiers.org/clinvar/50172 ^@ NM_000548.4(TSC2):c.*61_*62delAA http://identifiers.org/clinvar/50173 ^@ NM_000548.4(TSC2):c.*71C>A http://identifiers.org/clinvar/50174 ^@ NM_000548.4(TSC2):c.1001T>G (p.Val334Gly) http://identifiers.org/clinvar/50175 ^@ NM_000548.4(TSC2):c.1249C>T (p.Gln417Ter) http://identifiers.org/clinvar/50176 ^@ NM_000548.4(TSC2):c.1255C>T (p.Pro419Ser) http://identifiers.org/clinvar/50177 ^@ NM_000548.4(TSC2):c.1257+221_1257+226del6 http://identifiers.org/clinvar/50178 ^@ NM_000548.4(TSC2):c.1839+1G>T http://identifiers.org/clinvar/50179 ^@ NM_000548.4(TSC2):c.1844T>C (p.Phe615Ser) http://identifiers.org/clinvar/50180 ^@ NM_000548.4(TSC2):c.1844_1845delTT (p.Phe615Terfs) http://identifiers.org/clinvar/50181 ^@ NM_000548.4(TSC2):c.1293G>A (p.Ala431=) http://identifiers.org/clinvar/50182 ^@ NM_000548.4(TSC2):c.2447C>T (p.Pro816Leu) http://identifiers.org/clinvar/50183 ^@ NM_000548.4(TSC2):c.2468dupT (p.Pro824Alafs) http://identifiers.org/clinvar/50184 ^@ NM_000548.4(TSC2):c.2470_2473delCCTG (p.Pro824Phefs) http://identifiers.org/clinvar/50185 ^@ NM_000548.4(TSC2):c.1362-10C>A http://identifiers.org/clinvar/50186 ^@ NM_000548.4(TSC2):c.1362-2A>G http://identifiers.org/clinvar/50187 ^@ NM_000548.4(TSC2):c.1362-30dupC http://identifiers.org/clinvar/50188 ^@ NM_000548.4(TSC2):c.136A>T (p.Arg46Ter) http://identifiers.org/clinvar/50189 ^@ NM_000548.4(TSC2):c.1946T>C (p.Met649Thr) http://identifiers.org/clinvar/50190 ^@ NM_000548.4(TSC2):c.1947-2A>G http://identifiers.org/clinvar/50191 ^@ NM_000548.4(TSC2):c.1947-7T>C http://identifiers.org/clinvar/50192 ^@ NM_000548.4(TSC2):c.138+5G>A http://identifiers.org/clinvar/50193 ^@ NM_000548.4(TSC2):c.1385G>A (p.Arg462His) http://identifiers.org/clinvar/50194 ^@ NM_000548.4(TSC2):c.1397T>C (p.Leu466Pro) http://identifiers.org/clinvar/50195 ^@ NM_000548.4(TSC2):c.1397T>G (p.Leu466Arg) http://identifiers.org/clinvar/50196 ^@ NM_000548.4(TSC2):c.2628dupC (p.Asn877Glnfs) http://identifiers.org/clinvar/50197 ^@ NM_000548.4(TSC2):c.2814_2815delTA (p.Leu940Glnfs) http://identifiers.org/clinvar/50198 ^@ NM_000548.4(TSC2):c.3814+56C>T http://identifiers.org/clinvar/50206 ^@ NM_031850.3(AGTR1):c.356G>A (p.Trp119Ter) http://identifiers.org/clinvar/50207 ^@ NM_031850.3(AGTR1):c.481C>T (p.Arg161Ter) http://identifiers.org/clinvar/50208 ^@ NM_000789.3(ACE):c.1486C>T (p.Arg496Ter) http://identifiers.org/clinvar/50209 ^@ NM_000789.3(ACE):c.2371C>T (p.Arg791Ter) http://identifiers.org/clinvar/50210 ^@ NM_000537.3(REN):c.127C>T (p.Arg43Ter) http://identifiers.org/clinvar/50211 ^@ NM_000537.3(REN):c.404C>A (p.Ser135Tyr) http://identifiers.org/clinvar/50212 ^@ NM_001110556.1(FLNA):c.16_17delTC (p.Arg7Glyfs) http://identifiers.org/clinvar/50213 ^@ NM_001261406.1(MPDZ):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/50214 ^@ NM_025152.2(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223Alafs) http://identifiers.org/clinvar/50215 ^@ NM_025152.2(NUBPL):c.313G>T (p.Asp105Tyr) http://identifiers.org/clinvar/50216 ^@ NM_025152.2(NUBPL):c.693+1G>A http://identifiers.org/clinvar/50217 ^@ NM_025152.2(NUBPL):c.579A>C (p.Leu193Phe) http://identifiers.org/clinvar/50227 ^@ NM_000212.2(ITGB3):c.2245G>C (p.Asp749His) http://identifiers.org/clinvar/50228 ^@ NM_000212.2(ITGB3):c.2134+1G>C http://identifiers.org/clinvar/50229 ^@ NM_000212.2(ITGB3):c.2231T>C (p.Leu744Pro) http://identifiers.org/clinvar/50230 ^@ NM_031296.2(RAB33B):c.136A>C (p.Lys46Gln) http://identifiers.org/clinvar/50231 ^@ NM_031296.2(RAB33B):c.444T>A (p.Asn148Lys) http://identifiers.org/clinvar/50232 ^@ NM_000419.4(ITGA2B):c.3077G>A (p.Arg1026Gln) http://identifiers.org/clinvar/50233 ^@ NM_000419.4(ITGA2B):c.3076C>T (p.Arg1026Trp) http://identifiers.org/clinvar/50234 ^@ NM_183415.2(UBE3B):c.1741+2T>C http://identifiers.org/clinvar/50235 ^@ NM_130466.3(UBE3B):c.2223_2224delAG (p.Arg741Serfs) http://identifiers.org/clinvar/50236 ^@ NM_130466.3(UBE3B):c.545-2A>G http://identifiers.org/clinvar/50237 ^@ NM_130466.3(UBE3B):c.2180A>C (p.Gln727Pro) http://identifiers.org/clinvar/50257 ^@ NM_005430.3(WNT1):c.859dupC (p.His287Profs) http://identifiers.org/clinvar/50258 ^@ NM_005430.3(WNT1):c.624+4A>G http://identifiers.org/clinvar/50259 ^@ NM_005430.3(WNT1):c.565G>T (p.Glu189Ter) http://identifiers.org/clinvar/50260 ^@ NM_005430.3(WNT1):c.884C>A (p.Ser295Ter) http://identifiers.org/clinvar/50261 ^@ NM_005430.3(WNT1):c.946_949dupAACA (p.Ser317Lysfs) http://identifiers.org/clinvar/50262 ^@ NM_005430.3(WNT1):c.1063G>T (p.Val355Phe) http://identifiers.org/clinvar/50263 ^@ NM_005430.3(WNT1):c.703C>T (p.Arg235Trp) http://identifiers.org/clinvar/50279 ^@ NM_005120.2(MED12):c.3443G>A (p.Arg1148His) http://identifiers.org/clinvar/50280 ^@ NM_005120.2(MED12):c.3493T>C (p.Ser1165Pro) http://identifiers.org/clinvar/50281 ^@ NM_005120.2(MED12):c.5185C>A (p.His1729Asn) http://identifiers.org/clinvar/50294 ^@ NM_003441.3(ZNF141):c.1421C>T (p.Thr474Ile) http://identifiers.org/clinvar/50295 ^@ NM_004782.3(SNAP29):c.487dupA (p.Ser163Lysfs) http://identifiers.org/clinvar/50315 ^@ NM_001109878.1(TBX22):c.459-5T>A http://identifiers.org/clinvar/50316 ^@ NM_001033053.2(NLRP1):c.230T>C (p.Met77Thr) http://identifiers.org/clinvar/50317 ^@ NM_025152.2(NUBPL):c.815-27T>C http://identifiers.org/clinvar/50318 ^@ NM_001100.3(ACTA1):c.984G>C (p.Lys328Asn) http://identifiers.org/clinvar/50319 ^@ NM_001893.4(CSNK1D):c.137A>G (p.His46Arg) http://identifiers.org/clinvar/50353 ^@ NM_001001937.1(ATP5A1):c.985C>T (p.Arg329Cys) http://identifiers.org/clinvar/50354 ^@ NM_004562.2(PRKN):c.1292G>T (p.Cys431Phe) http://identifiers.org/clinvar/50356 ^@ NM_012330.3(KAT6B):c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs) http://identifiers.org/clinvar/50357 ^@ NM_012330.3(KAT6B):c.5389C>T (p.Arg1797Ter) http://identifiers.org/clinvar/50362 ^@ NC_000009.12:g.4406529_4490826del84298 http://identifiers.org/clinvar/50363 ^@ SLC35A2:c.15_91+48delinsA http://identifiers.org/clinvar/50364 ^@ NM_001042498.2(SLC35A2):c.991G>A (p.Val331Ile) http://identifiers.org/clinvar/50365 ^@ NM_001042498.2(SLC35A2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/50368 ^@ NM_002900.2(RBP3):c.3238G>A (p.Asp1080Asn) http://identifiers.org/clinvar/50369 ^@ NM_002290.4(LAMA4):c.3217C>T (p.Arg1073Ter) http://identifiers.org/clinvar/50370 ^@ NM_002290.4(LAMA4):c.2828C>T (p.Pro943Leu) http://identifiers.org/clinvar/50371 ^@ NM_004517.3(ILK):c.785C>T (p.Ala262Val) http://identifiers.org/clinvar/50372 ^@ NM_018234.2(STEAP3):c.300C>A (p.Cys100Ter) http://identifiers.org/clinvar/50376 ^@ NM_178857.5(RP1L1):c.603delG (p.Lys203Argfs) http://identifiers.org/clinvar/50383 ^@ NM_024769.3(CLMP):c.230delA (p.Glu77Glyfs) http://identifiers.org/clinvar/50384 ^@ NM_024769.3(CLMP):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/50385 ^@ NM_024769.3(CLMP):c.664C>T (p.Arg222Ter) http://identifiers.org/clinvar/50386 ^@ NM_024769.3(CLMP):c.371T>A (p.Val124Asp) http://identifiers.org/clinvar/50400 ^@ NM_022094.3(CIDEC):c.556G>T (p.Glu186Ter) http://identifiers.org/clinvar/50496 ^@ NM_006902.4(PRRX1):c.269delA (p.Lys90Argfs) http://identifiers.org/clinvar/50497 ^@ NM_006902.4(PRRX1):c.266_269dupAAAA (p.Arg92Glufs) http://identifiers.org/clinvar/50501 ^@ NM_004309.5(ARHGDIA):c.553_555delGAC (p.Asp185del) http://identifiers.org/clinvar/50502 ^@ NM_001256240.1(PGAP2):c.296A>G (p.Tyr99Cys) http://identifiers.org/clinvar/50503 ^@ NM_001256240.1(PGAP2):c.530G>C (p.Arg177Pro) http://identifiers.org/clinvar/50504 ^@ NM_001256240.1(PGAP2):c.380T>C (p.Leu127Ser) http://identifiers.org/clinvar/50505 ^@ NM_001256240.1(PGAP2):c.46C>T (p.Arg16Trp) http://identifiers.org/clinvar/50506 ^@ NM_001145438.2(PGAP2):c.479C>T (p.Thr160Ile) http://identifiers.org/clinvar/50512 ^@ NM_032578.3(MYPN):c.2882C>T (p.Pro961Leu) http://identifiers.org/clinvar/50557 ^@ NM_018972.2(GDAP1):c.467C>G (p.Ala156Gly) http://identifiers.org/clinvar/50558 ^@ NM_018972.2(GDAP1):c.368A>G (p.His123Arg) http://identifiers.org/clinvar/50559 ^@ NM_018972.2(GDAP1):c.821C>T (p.Pro274Leu) http://identifiers.org/clinvar/50606 ^@ NM_014254.2(TMEM5):c.1018C>T (p.Arg340Ter) http://identifiers.org/clinvar/50607 ^@ NM_014254.2(TMEM5):c.139delG (p.Ala47Argfs) http://identifiers.org/clinvar/50608 ^@ NM_020458.3(TTC7A):c.1000_1001+2delAAGT http://identifiers.org/clinvar/50609 ^@ NM_020458.3(TTC7A):c.2468T>C (p.Leu823Pro) http://identifiers.org/clinvar/50610 ^@ NM_032237.4(POMK):c.410T>G (p.Leu137Arg) http://identifiers.org/clinvar/50611 ^@ NM_032237.4(POMK):c.773A>G (p.Gln258Arg) http://identifiers.org/clinvar/50634 ^@ NM_001282459.1(C2):c.841_868del28 (p.Val281Profs) http://identifiers.org/clinvar/50641 ^@ NM_017410.2(HOXC13):c.355delC (p.Leu119Trpfs) http://identifiers.org/clinvar/50788 ^@ NM_003647.2(DGKE):c.188G>C (p.Arg63Pro) http://identifiers.org/clinvar/50789 ^@ NM_003647.2(DGKE):c.32C>A (p.Ser11Ter) http://identifiers.org/clinvar/50790 ^@ NM_003647.2(DGKE):c.818G>C (p.Arg273Pro) http://identifiers.org/clinvar/50791 ^@ NM_201647.2(STAMBP):c.125A>G (p.Glu42Gly) http://identifiers.org/clinvar/50792 ^@ NM_201647.2(STAMBP):c.532C>T (p.Arg178Ter) http://identifiers.org/clinvar/50793 ^@ NM_201647.2(STAMBP):c.112C>T (p.Arg38Cys) http://identifiers.org/clinvar/50794 ^@ NM_201647.2(STAMBP):c.279+5G>T http://identifiers.org/clinvar/50795 ^@ NM_201647.2(STAMBP):c.1270C>T (p.Arg424Ter) http://identifiers.org/clinvar/50796 ^@ NM_201647.2(STAMBP):c.299T>A (p.Phe100Tyr) http://identifiers.org/clinvar/50797 ^@ NM_201647.2(STAMBP):c.411delC (p.Ile138Serfs) http://identifiers.org/clinvar/50819 ^@ NM_001242896.1(DEPDC5):c.21C>G (p.Tyr7Ter) http://identifiers.org/clinvar/50820 ^@ NM_001242896.1(DEPDC5):c.1663C>T (p.Arg555Ter) http://identifiers.org/clinvar/50821 ^@ NM_001242896.1(DEPDC5):c.489_491delGTT (p.Phe164del) http://identifiers.org/clinvar/50822 ^@ NM_001242896.1(DEPDC5):c.4107G>A (p.Trp1369Ter) http://identifiers.org/clinvar/50823 ^@ NM_001242896.1(DEPDC5):c.1122delA (p.Leu374PhefsTer30) http://identifiers.org/clinvar/50824 ^@ NM_001242896.1(DEPDC5):c.715C>T (p.Arg239Ter) http://identifiers.org/clinvar/50825 ^@ NM_001242896.1(DEPDC5):c.982C>T (p.Arg328Ter) http://identifiers.org/clinvar/50826 ^@ SMIM1, 17-BP DEL, NT64 http://identifiers.org/clinvar/50849 ^@ NM_023110.2(FGFR1):c.1042G>A (p.Gly348Arg) http://identifiers.org/clinvar/50850 ^@ NM_023110.2(FGFR1):c.1447C>A (p.Pro483Thr) http://identifiers.org/clinvar/50851 ^@ NM_023110.2(FGFR1):c.2075A>G (p.Glu692Gly) http://identifiers.org/clinvar/50852 ^@ NM_023110.2(FGFR1):c.2008G>A (p.Glu670Lys) http://identifiers.org/clinvar/50853 ^@ NM_002072.4(GNAQ):c.548G>A (p.Arg183Gln) http://identifiers.org/clinvar/50854 ^@ NM_001946.3(DUSP6):c.566A>G (p.Asn189Ser) http://identifiers.org/clinvar/50855 ^@ NM_001946.3(DUSP6):c.545C>T (p.Ser182Phe) http://identifiers.org/clinvar/50856 ^@ NM_001946.3(DUSP6):c.1037C>T (p.Thr346Met) http://identifiers.org/clinvar/50857 ^@ NM_001946.3(DUSP6):c.229T>A (p.Phe77Ile) http://identifiers.org/clinvar/50858 ^@ NM_003867.3(FGF17):c.323T>C (p.Ile108Thr) http://identifiers.org/clinvar/50859 ^@ NM_003867.3(FGF17):c.530G>A (p.Arg177His) http://identifiers.org/clinvar/50860 ^@ NM_003867.3(FGF17):c.560A>G (p.Asn187Ser) http://identifiers.org/clinvar/50861 ^@ NM_032551.4(KISS1R):c.581C>A (p.Ala194Asp) http://identifiers.org/clinvar/50862 ^@ NM_013281.3(FLRT3):c.290A>G (p.Glu97Gly) http://identifiers.org/clinvar/50863 ^@ NM_013281.3(FLRT3):c.431G>T (p.Ser144Ile) http://identifiers.org/clinvar/50864 ^@ NM_013281.3(FLRT3):c.205C>A (p.Gln69Lys) http://identifiers.org/clinvar/50865 ^@ NM_013281.3(FLRT3):c.1016A>G (p.Lys339Arg) http://identifiers.org/clinvar/50866 ^@ NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) http://identifiers.org/clinvar/50867 ^@ NM_017563.4(IL17RD):c.392A>C (p.Lys131Thr) http://identifiers.org/clinvar/50868 ^@ NM_017563.4(IL17RD):c.1136A>G (p.Tyr379Cys) http://identifiers.org/clinvar/50869 ^@ NM_017563.4(IL17RD):c.2204C>T (p.Ala735Val) http://identifiers.org/clinvar/50870 ^@ NM_017563.4(IL17RD):c.1403C>T (p.Ser468Leu) http://identifiers.org/clinvar/50871 ^@ NM_017563.4(IL17RD):c.1730C>A (p.Pro577Gln) http://identifiers.org/clinvar/50872 ^@ NM_030964.3(SPRY4):c.530A>G (p.Lys177Arg) http://identifiers.org/clinvar/50873 ^@ NM_030964.3(SPRY4):c.910G>A (p.Val304Ile) http://identifiers.org/clinvar/50874 ^@ NM_030964.3(SPRY4):c.722C>A (p.Ser241Tyr) http://identifiers.org/clinvar/50875 ^@ NM_001127496.1(SPRY4):c.46G>A (p.Val16Ile) http://identifiers.org/clinvar/50897 ^@ NM_000036.2(AMPD1):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/50905 ^@ NM_001169109.1(SCO2):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/50906 ^@ NM_032208.2(ANTXR1):c.505C>T (p.Arg169Ter) http://identifiers.org/clinvar/50907 ^@ NM_032208.2(ANTXR1):c.262C>T (p.Arg88Ter) http://identifiers.org/clinvar/50908 ^@ NM_032208.2(ANTXR1):c.1435-12A>G http://identifiers.org/clinvar/50909 ^@ NM_052961.3(SLC26A8):c.260G>A (p.Arg87Gln) http://identifiers.org/clinvar/50910 ^@ NM_052961.3(SLC26A8):c.2434G>A (p.Glu812Lys) http://identifiers.org/clinvar/50911 ^@ NM_052961.3(SLC26A8):c.2860C>T (p.Arg954Cys) http://identifiers.org/clinvar/50912 ^@ NM_207111.3(RNF216):c.2251C>T (p.Arg751Cys) http://identifiers.org/clinvar/50913 ^@ NM_207111.3(RNF216):c.1791T>A (p.Cys597Ter) http://identifiers.org/clinvar/50914 ^@ NM_207111.3(RNF216):c.615_616delGA (p.Glu205Aspfs) http://identifiers.org/clinvar/50915 ^@ NM_001102653.1(OTUD4):c.998G>T (p.Gly333Val) http://identifiers.org/clinvar/50919 ^@ NM_001130823.2(DNMT1):c.1816G>T (p.Val606Phe) http://identifiers.org/clinvar/50920 ^@ NM_001130823.2(DNMT1):c.1709C>T (p.Ala570Val) http://identifiers.org/clinvar/50921 ^@ NM_001130823.2(DNMT1):c.1814G>C (p.Gly605Ala) http://identifiers.org/clinvar/50922 ^@ NM_005006.6(NDUFS1):c.1855G>A (p.Asp619Asn) http://identifiers.org/clinvar/50923 ^@ NM_005006.6(NDUFS1):c.1669C>T (p.Arg557Ter) http://identifiers.org/clinvar/50924 ^@ NM_005006.6(NDUFS1):c.1222C>T (p.Arg408Cys) http://identifiers.org/clinvar/50926 ^@ NM_005430.3(WNT1):c.652T>G (p.Cys218Gly) http://identifiers.org/clinvar/50930 ^@ NM_002016.1(FLG):c.9740C>A (p.Ser3247Ter) http://identifiers.org/clinvar/50932 ^@ NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter) http://identifiers.org/clinvar/50934 ^@ NM_002755.3(MAP2K1):c.957C>T (p.Asn319=) http://identifiers.org/clinvar/50935 ^@ NM_030662.3(MAP2K2):c.33G>A (p.Ala11=) http://identifiers.org/clinvar/50936 ^@ NM_005159.4(ACTC1):c.28C>A (p.Leu10Met) http://identifiers.org/clinvar/50937 ^@ NM_005159.4(ACTC1):c.83C>T (p.Ala28Val) http://identifiers.org/clinvar/50938 ^@ NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=) http://identifiers.org/clinvar/50939 ^@ NM_030662.3(MAP2K2):c.474G>A (p.Val158=) http://identifiers.org/clinvar/50940 ^@ NM_030662.3(MAP2K2):c.621G>A (p.Glu207=) http://identifiers.org/clinvar/50941 ^@ NM_021954.3(GJA3):c.563A>C (p.Asn188Thr) http://identifiers.org/clinvar/50942 ^@ NM_021954.3(GJA3):c.5G>A (p.Gly2Asp) http://identifiers.org/clinvar/50943 ^@ NM_021954.3(GJA3):c.563A>T (p.Asn188Ile) http://identifiers.org/clinvar/50944 ^@ NM_021954.3(GJA3):c.616T>A (p.Phe206Ile) http://identifiers.org/clinvar/50945 ^@ NM_021954.3(GJA3):c.427G>A (p.Gly143Arg) http://identifiers.org/clinvar/50946 ^@ NM_016529.5(ATP8A2):c.1128C>G (p.Ile376Met) http://identifiers.org/clinvar/50947 ^@ NM_033517.1(SHANK3):c.3931delG (p.Glu1311Lysfs) http://identifiers.org/clinvar/50948 ^@ SHANK3, 1-BP INS, 1339G http://identifiers.org/clinvar/50949 ^@ NM_033517.1(SHANK3):c.421C>G (p.Pro141Ala) http://identifiers.org/clinvar/50951 ^@ NM_080871.3(ASB10):c.765C>T (p.Thr255=) http://identifiers.org/clinvar/50952 ^@ NM_080871.3(ASB10):c.519C>A (p.Cys173Ter) http://identifiers.org/clinvar/50953 ^@ NM_080871.3(ASB10):c.574G>C (p.Val192Leu) http://identifiers.org/clinvar/50954 ^@ NM_001142459.1(ASB10):c.215G>A (p.Arg72His) http://identifiers.org/clinvar/50959 ^@ NM_004506.3(HSF2):c.1505G>A (p.Arg502His) http://identifiers.org/clinvar/50960 ^@ NM_012064.3(MIP):c.638delG (p.Gly213Valfs) http://identifiers.org/clinvar/50961 ^@ NM_018297.3(NGLY1):c.1891delC (p.Gln631Serfs) http://identifiers.org/clinvar/50962 ^@ NM_018297.3(NGLY1):c.1201A>T (p.Arg401Ter) http://identifiers.org/clinvar/50980 ^@ NM_018684.3(ZC4H2):c.187G>C (p.Val63Leu) http://identifiers.org/clinvar/50981 ^@ NM_018684.3(ZC4H2):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/50982 ^@ NM_018684.3(ZC4H2):c.601C>T (p.Pro201Ser) http://identifiers.org/clinvar/50983 ^@ NM_018684.3(ZC4H2):c.637C>T (p.Arg213Trp) http://identifiers.org/clinvar/50984 ^@ NM_006087.3(TUBB4A):c.4C>G (p.Arg2Gly) http://identifiers.org/clinvar/50985 ^@ NM_006087.3(TUBB4A):c.745G>A (p.Asp249Asn) http://identifiers.org/clinvar/50986 ^@ NM_001349.3(DARS):c.1099G>T (p.Asp367Tyr) http://identifiers.org/clinvar/50987 ^@ NM_001349.3(DARS):c.821C>T (p.Ala274Val) http://identifiers.org/clinvar/50988 ^@ NM_001349.3(DARS):c.766A>C (p.Met256Leu) http://identifiers.org/clinvar/50989 ^@ NM_001349.3(DARS):c.1459C>T (p.Arg487Cys) http://identifiers.org/clinvar/50990 ^@ NM_001349.3(DARS):c.1379G>A (p.Arg460His) http://identifiers.org/clinvar/50991 ^@ NM_001349.3(DARS):c.1480C>G (p.Arg494Gly) http://identifiers.org/clinvar/50992 ^@ NM_130468.3(CHST14):c.821G>C (p.Arg274Pro) http://identifiers.org/clinvar/50993 ^@ NM_014845.5(FIG4):c.1260_1261delGT (p.Thr422Glnfs) http://identifiers.org/clinvar/50994 ^@ NM_014845.5(FIG4):c.311G>A (p.Gly104Asp) http://identifiers.org/clinvar/50995 ^@ NM_014845.5(FIG4):c.831_838delTAAATTTG (p.Lys278Trpfs) http://identifiers.org/clinvar/50996 ^@ NM_014845.5(FIG4):c.524T>C (p.Leu175Pro) http://identifiers.org/clinvar/51005 ^@ NM_002972.3(SBF1):c.1249A>G (p.Met417Val) http://identifiers.org/clinvar/51006 ^@ NM_002972.3(SBF1):c.4768A>G (p.Thr1590Ala) http://identifiers.org/clinvar/242670 ^@ NM_006876.2(B4GAT1):c.1217C>T (p.Ala406Val) http://identifiers.org/clinvar/242669 ^@ NM_006876.2(B4GAT1):c.1168A>G (p.Asn390Asp) http://identifiers.org/clinvar/51027 ^@ NM_000492.3(CFTR):c.-887C>T http://identifiers.org/clinvar/51028 ^@ NM_000492.3(CFTR):c.-887_-885del http://identifiers.org/clinvar/51029 ^@ NM_000492.3(CFTR):c.-812T>G http://identifiers.org/clinvar/51030 ^@ NM_000492.3(CFTR):c.-495C>T http://identifiers.org/clinvar/51031 ^@ NM_000492.3(CFTR):c.-226G>T http://identifiers.org/clinvar/51032 ^@ NG_016465.4:g.141369_151223del9855 http://identifiers.org/clinvar/51033 ^@ NM_000492.3(CFTR):c.2989-977_3367+248del http://identifiers.org/clinvar/51034 ^@ NM_000059.3(BRCA2):c.-33T>C http://identifiers.org/clinvar/51035 ^@ NM_000059.3(BRCA2):c.10024G>T (p.Glu3342Ter) http://identifiers.org/clinvar/51036 ^@ NM_000059.3(BRCA2):c.10070C>T (p.Thr3357Ile) http://identifiers.org/clinvar/51037 ^@ NM_000059.3(BRCA2):c.10071delA (p.Gly3358Glufs) http://identifiers.org/clinvar/51038 ^@ NM_000059.3(BRCA2):c.10076A>G (p.Glu3359Gly) http://identifiers.org/clinvar/51039 ^@ NM_000059.3(BRCA2):c.10089A>G (p.Ile3363Met) http://identifiers.org/clinvar/51040 ^@ NM_000059.3(BRCA2):c.10091_10092delCT (p.Ser3364Cysfs) http://identifiers.org/clinvar/51041 ^@ NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter) http://identifiers.org/clinvar/51042 ^@ NM_000059.3(BRCA2):c.10105A>G (p.Thr3369Ala) http://identifiers.org/clinvar/51043 ^@ NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) http://identifiers.org/clinvar/51044 ^@ NM_000059.3(BRCA2):c.10112C>G (p.Thr3371Ser) http://identifiers.org/clinvar/51045 ^@ NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) http://identifiers.org/clinvar/51046 ^@ NM_000059.3(BRCA2):c.10120A>G (p.Thr3374Ala) http://identifiers.org/clinvar/51047 ^@ NM_000059.3(BRCA2):c.10121C>T (p.Thr3374Ile) http://identifiers.org/clinvar/51048 ^@ NM_000059.3(BRCA2):c.1012G>A (p.Ala338Thr) http://identifiers.org/clinvar/51049 ^@ NM_000059.3(BRCA2):c.10150C>T (p.Arg3384Ter) http://identifiers.org/clinvar/51050 ^@ NM_000059.3(BRCA2):c.10151G>A (p.Arg3384Gln) http://identifiers.org/clinvar/51051 ^@ NM_000059.3(BRCA2):c.10157G>T (p.Cys3386Phe) http://identifiers.org/clinvar/51052 ^@ NM_000059.3(BRCA2):c.10175A>C (p.Lys3392Thr) http://identifiers.org/clinvar/51053 ^@ NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) http://identifiers.org/clinvar/51054 ^@ NM_000059.3(BRCA2):c.10204G>A (p.Glu3402Lys) http://identifiers.org/clinvar/51055 ^@ NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser) http://identifiers.org/clinvar/51056 ^@ NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) http://identifiers.org/clinvar/51057 ^@ NM_000059.3(BRCA2):c.10230C>A (p.Asp3410Glu) http://identifiers.org/clinvar/51058 ^@ NM_000059.3(BRCA2):c.10251T>C (p.Tyr3417=) http://identifiers.org/clinvar/51059 ^@ NM_000059.3(BRCA2):c.1033A>G (p.Lys345Glu) http://identifiers.org/clinvar/51060 ^@ NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) http://identifiers.org/clinvar/51061 ^@ NM_000059.3(BRCA2):c.1082delA (p.Asn361Metfs) http://identifiers.org/clinvar/51062 ^@ NM_000059.3(BRCA2):c.1097dupT (p.Leu366Phefs) http://identifiers.org/clinvar/51063 ^@ NM_000059.3(BRCA2):c.10G>T (p.Gly4Ter) http://identifiers.org/clinvar/51064 ^@ NM_000059.3(BRCA2):c.1103C>A (p.Ser368Ter) http://identifiers.org/clinvar/51065 ^@ NM_000059.3(BRCA2):c.1117C>T (p.Gln373Ter) http://identifiers.org/clinvar/51066 ^@ NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) http://identifiers.org/clinvar/51067 ^@ NM_000059.3(BRCA2):c.1124C>T (p.Pro375Leu) http://identifiers.org/clinvar/51068 ^@ NM_000059.3(BRCA2):c.1127T>G (p.Phe376Cys) http://identifiers.org/clinvar/51069 ^@ NM_000059.3(BRCA2):c.1128delT (p.Phe376Leufs) http://identifiers.org/clinvar/51070 ^@ NM_000059.3(BRCA2):c.1138delA (p.Ser380Valfs) http://identifiers.org/clinvar/51071 ^@ NM_000059.3(BRCA2):c.1147delA (p.Ile383Serfs) http://identifiers.org/clinvar/51072 ^@ NM_000059.3(BRCA2):c.1149C>A (p.Ile383=) http://identifiers.org/clinvar/51073 ^@ NM_000059.3(BRCA2):c.1153A>T (p.Lys385Ter) http://identifiers.org/clinvar/51074 ^@ NM_000059.3(BRCA2):c.115delG (p.Ala39Leufs) http://identifiers.org/clinvar/51075 ^@ NM_000059.3(BRCA2):c.1176_1180delCTGTG (p.Cys393Metfs) http://identifiers.org/clinvar/51076 ^@ NM_000059.3(BRCA2):c.1180G>T (p.Glu394Ter) http://identifiers.org/clinvar/51077 ^@ NM_000059.3(BRCA2):c.1181A>C (p.Glu394Ala) http://identifiers.org/clinvar/51078 ^@ NM_000059.3(BRCA2):c.1183T>G (p.Trp395Gly) http://identifiers.org/clinvar/51079 ^@ NM_000059.3(BRCA2):c.1188T>G (p.Ser396=) http://identifiers.org/clinvar/51080 ^@ NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397Leufs) http://identifiers.org/clinvar/51081 ^@ NM_000059.3(BRCA2):c.1202C>G (p.Ser401Ter) http://identifiers.org/clinvar/51082 ^@ NM_000059.3(BRCA2):c.1211A>T (p.Asn404Ile) http://identifiers.org/clinvar/51083 ^@ NM_000059.3(BRCA2):c.1218C>G (p.Ala406=) http://identifiers.org/clinvar/51084 ^@ NM_000059.3(BRCA2):c.1219delC (p.Gln407Argfs) http://identifiers.org/clinvar/51085 ^@ NM_000059.3(BRCA2):c.121C>T (p.Pro41Ser) http://identifiers.org/clinvar/51086 ^@ NM_000059.3(BRCA2):c.1225G>A (p.Glu409Lys) http://identifiers.org/clinvar/51087 ^@ NM_000059.3(BRCA2):c.1225delG (p.Glu409Argfs) http://identifiers.org/clinvar/51088 ^@ NM_000059.3(BRCA2):c.1233dupA (p.Pro412Thrfs) http://identifiers.org/clinvar/51089 ^@ NM_000059.3(BRCA2):c.1241T>A (p.Leu414Ter) http://identifiers.org/clinvar/51090 ^@ NM_000059.3(BRCA2):c.1244A>G (p.His415Arg) http://identifiers.org/clinvar/51091 ^@ NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) http://identifiers.org/clinvar/51092 ^@ NM_000059.3(BRCA2):c.1261C>T (p.Gln421Ter) http://identifiers.org/clinvar/51093 ^@ NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) http://identifiers.org/clinvar/51094 ^@ NM_000059.3(BRCA2):c.1278delA (p.Asp427Thrfs) http://identifiers.org/clinvar/51095 ^@ NM_000059.3(BRCA2):c.1287A>G (p.Leu429=) http://identifiers.org/clinvar/51096 ^@ NM_000059.3(BRCA2):c.128delA (p.Asn43Ilefs) http://identifiers.org/clinvar/51097 ^@ NM_000059.3(BRCA2):c.1300_1303delAAAA (p.Lys434Glufs) http://identifiers.org/clinvar/51098 ^@ NM_000059.3(BRCA2):c.1307delA (p.Lys436Argfs) http://identifiers.org/clinvar/51099 ^@ NM_000059.3(BRCA2):c.1310_1311delAA (p.Lys437Argfs) http://identifiers.org/clinvar/51100 ^@ NM_000059.3(BRCA2):c.1315T>G (p.Phe439Val) http://identifiers.org/clinvar/51101 ^@ NM_000059.3(BRCA2):c.1325C>T (p.Ser442Leu) http://identifiers.org/clinvar/51102 ^@ NM_000059.3(BRCA2):c.1327G>T (p.Glu443Ter) http://identifiers.org/clinvar/51103 ^@ NM_000059.3(BRCA2):c.1335_1338delTTTG (p.Leu446Hisfs) http://identifiers.org/clinvar/51104 ^@ NM_000059.3(BRCA2):c.133G>T (p.Glu45Ter) http://identifiers.org/clinvar/51105 ^@ NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) http://identifiers.org/clinvar/51106 ^@ NM_000059.3(BRCA2):c.1343G>A (p.Arg448His) http://identifiers.org/clinvar/51107 ^@ NM_000059.3(BRCA2):c.1354C>A (p.Leu452Ile) http://identifiers.org/clinvar/51108 ^@ NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) http://identifiers.org/clinvar/51109 ^@ NM_000059.3(BRCA2):c.1362delA (p.Lys454Asnfs) http://identifiers.org/clinvar/51110 ^@ NM_000059.3(BRCA2):c.1368_1369delGA (p.Lys457Alafs) http://identifiers.org/clinvar/51111 ^@ NM_000059.3(BRCA2):c.136C>T (p.Pro46Ser) http://identifiers.org/clinvar/51112 ^@ NM_000059.3(BRCA2):c.1375T>G (p.Leu459Val) http://identifiers.org/clinvar/51113 ^@ NM_000059.3(BRCA2):c.1389_1390delAG (p.Val464Glyfs) http://identifiers.org/clinvar/51114 ^@ NM_000059.3(BRCA2):c.1389delA (p.Val464Trpfs) http://identifiers.org/clinvar/51115 ^@ NM_000059.3(BRCA2):c.1392_1393insT (p.Val465Cysfs) http://identifiers.org/clinvar/51116 ^@ NM_000059.3(BRCA2):c.1395A>C (p.Val465=) http://identifiers.org/clinvar/51117 ^@ NM_000059.3(BRCA2):c.1395A>T (p.Val465=) http://identifiers.org/clinvar/51118 ^@ NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) http://identifiers.org/clinvar/51119 ^@ NM_000059.3(BRCA2):c.1405_1406delGA (p.Asp469Terfs) http://identifiers.org/clinvar/51120 ^@ NM_000059.3(BRCA2):c.1411G>T (p.Glu471Ter) http://identifiers.org/clinvar/51121 ^@ NM_000059.3(BRCA2):c.1414C>T (p.Gln472Ter) http://identifiers.org/clinvar/51122 ^@ NM_000059.3(BRCA2):c.1418A>T (p.His473Leu) http://identifiers.org/clinvar/51123 ^@ NM_000059.3(BRCA2):c.1423G>T (p.Glu475Ter) http://identifiers.org/clinvar/51124 ^@ NM_000059.3(BRCA2):c.1444delC (p.Ala483Glnfs) http://identifiers.org/clinvar/51125 ^@ NM_000059.3(BRCA2):c.1447G>A (p.Ala483Thr) http://identifiers.org/clinvar/51126 ^@ NM_000059.3(BRCA2):c.1447G>C (p.Ala483Pro) http://identifiers.org/clinvar/64583 ^@ NM_022042.3(SLC26A1):c.1622G>A (p.Arg541His) http://identifiers.org/clinvar/64584 ^@ NM_022042.3(SLC26A1):c.1633C>T (p.Pro545Ser) http://identifiers.org/clinvar/64585 ^@ NM_022042.3(SLC26A1):c.1685C>T (p.Thr562Met) http://identifiers.org/clinvar/64586 ^@ NM_022042.3(SLC26A1):c.1711G>A (p.Ala571Thr) http://identifiers.org/clinvar/64587 ^@ NM_022042.3(SLC26A1):c.1886C>T (p.Thr629Met) http://identifiers.org/clinvar/64588 ^@ NM_022042.3(SLC26A1):c.1906G>T (p.Asp636Tyr) http://identifiers.org/clinvar/64589 ^@ NM_022042.3(SLC26A1):c.226G>A (p.Gly76Arg) http://identifiers.org/clinvar/64590 ^@ NM_022042.3(SLC26A1):c.356G>A (p.Arg119Gln) http://identifiers.org/clinvar/64591 ^@ NM_022042.3(SLC26A1):c.433G>A (p.Gly145Ser) http://identifiers.org/clinvar/64592 ^@ NM_022042.3(SLC26A1):c.731T>C (p.Met244Thr) http://identifiers.org/clinvar/64593 ^@ NM_022042.3(SLC26A1):c.760C>T (p.Arg254Cys) http://identifiers.org/clinvar/64594 ^@ NM_032387.4(WNK4):c.1222A>T (p.Ile408Phe) http://identifiers.org/clinvar/64595 ^@ NM_032387.4(WNK4):c.1323A>T (p.Glu441Asp) http://identifiers.org/clinvar/64596 ^@ NM_032387.4(WNK4):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/64597 ^@ NM_032387.4(WNK4):c.1892G>A (p.Gly631Asp) http://identifiers.org/clinvar/64598 ^@ NM_032387.4(WNK4):c.2084C>G (p.Thr695Ser) http://identifiers.org/clinvar/64599 ^@ NM_032387.4(WNK4):c.2476G>A (p.Gly826Ser) http://identifiers.org/clinvar/64600 ^@ NM_032387.4(WNK4):c.2577C>T (p.Thr859=) http://identifiers.org/clinvar/64601 ^@ NM_032387.4(WNK4):c.2718T>C (p.Phe906=) http://identifiers.org/clinvar/64602 ^@ NM_032387.4(WNK4):c.3536C>T (p.Ala1179Val) http://identifiers.org/clinvar/64603 ^@ NM_032387.4(WNK4):c.546T>A (p.Arg182=) http://identifiers.org/clinvar/64604 ^@ NM_032387.4(WNK4):c.973G>A (p.Ala325Thr) http://identifiers.org/clinvar/64605 ^@ NM_199328.2(CLDN8):c.162C>A (p.Cys54Ter) http://identifiers.org/clinvar/64606 ^@ NM_199328.2(CLDN8):c.358C>T (p.Leu120=) http://identifiers.org/clinvar/64613 ^@ NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) http://identifiers.org/clinvar/64615 ^@ NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) http://identifiers.org/clinvar/64617 ^@ NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) http://identifiers.org/clinvar/64618 ^@ NM_005076.4(CNTN2):c.503delG (p.Trp168Cysfs) http://identifiers.org/clinvar/64619 ^@ NM_001077416.2(TMEM231):c.823G>A (p.Val275Ile) http://identifiers.org/clinvar/64620 ^@ NM_001077416.2(TMEM231):c.974A>C (p.Gln325Pro) http://identifiers.org/clinvar/64621 ^@ NM_001290343.1(CERS3):c.43T>C (p.Trp15Arg) http://identifiers.org/clinvar/64622 ^@ NM_000165.4(GJA1):c.716G>A (p.Arg239Gln) http://identifiers.org/clinvar/64623 ^@ NM_004752.3(GCM2):c.893delT (p.Ile298Thrfs) http://identifiers.org/clinvar/64624 ^@ NM_022915.3(MRPL44):c.467T>G (p.Leu156Arg) http://identifiers.org/clinvar/64625 ^@ NM_005235.2(ERBB4):c.2780G>A (p.Arg927Gln) http://identifiers.org/clinvar/64626 ^@ NM_005235.2(ERBB4):c.3823C>T (p.Arg1275Trp) http://identifiers.org/clinvar/64644 ^@ NM_003361.3(UMOD):c.743G>C (p.Cys248Ser) http://identifiers.org/clinvar/64645 ^@ NM_001193333.2(CORO1A):c.400G>A (p.Val134Met) http://identifiers.org/clinvar/64646 ^@ NM_005689.2(ABCB6):c.1067T>C (p.Leu356Pro) http://identifiers.org/clinvar/64647 ^@ NM_005689.2(ABCB6):c.508A>G (p.Ser170Gly) http://identifiers.org/clinvar/64648 ^@ NM_005689.2(ABCB6):c.1736G>A (p.Gly579Glu) http://identifiers.org/clinvar/64649 ^@ NM_015937.5(PIGT):c.547A>C (p.Thr183Pro) http://identifiers.org/clinvar/64650 ^@ NM_015937.5(PIGT):c.1401-2A>G http://identifiers.org/clinvar/64670 ^@ CEL, 3-REPEAT VNTR http://identifiers.org/clinvar/64671 ^@ NM_002295.5(RPSA):c.25C>T (p.Gln9Ter) http://identifiers.org/clinvar/64672 ^@ NM_002295.5(RPSA):c.590_594dupTCATG (p.Pro199Serfs) http://identifiers.org/clinvar/64673 ^@ NM_002295.5(RPSA):c.538C>G (p.Arg180Gly) http://identifiers.org/clinvar/64674 ^@ NM_002295.5(RPSA):c.538C>T (p.Arg180Trp) http://identifiers.org/clinvar/64675 ^@ NM_002295.5(RPSA):c.556C>T (p.Arg186Cys) http://identifiers.org/clinvar/64676 ^@ NM_002295.5(RPSA):c.161C>A (p.Thr54Asn) http://identifiers.org/clinvar/64677 ^@ NM_002295.5(RPSA):c.172C>T (p.Leu58Phe) http://identifiers.org/clinvar/64678 ^@ NM_000374.4(UROD):c.6_15delAGCGAATGGG (p.Glu2Aspfs) http://identifiers.org/clinvar/64679 ^@ NM_000374.4(UROD):c.346C>T (p.Gln116Ter) http://identifiers.org/clinvar/64680 ^@ NM_152327.3(AK7):c.1171dupT (p.Tyr391Leufs) http://identifiers.org/clinvar/64681 ^@ NM_024339.4(THOC6):c.136G>A (p.Gly46Arg) http://identifiers.org/clinvar/64687 ^@ NM_002438.3(MRC1):c.1186G>A (p.Gly396Ser) http://identifiers.org/clinvar/64689 ^@ NM_139276.2(STAT3):c.1166C>T (p.Thr389Ile) http://identifiers.org/clinvar/64690 ^@ NM_203330.2(CD59):c.266G>A (p.Cys89Tyr) http://identifiers.org/clinvar/64691 ^@ NM_006496.3(GNAI3):c.141C>A (p.Ser47Arg) http://identifiers.org/clinvar/64692 ^@ NM_001172646.1(PLCB4):c.1898G>T (p.Arg633Leu) http://identifiers.org/clinvar/64693 ^@ NM_001172646.1(PLCB4):c.1073A>T (p.Glu358Val) http://identifiers.org/clinvar/64694 ^@ NM_001172646.1(PLCB4):c.1078G>A (p.Asp360Asn) http://identifiers.org/clinvar/64695 ^@ NM_001172646.1(PLCB4):c.1079A>T (p.Asp360Val) http://identifiers.org/clinvar/64696 ^@ NG_032790.1:g.343582_348578del4997 http://identifiers.org/clinvar/64697 ^@ NM_000368.4(TSC1):c.2164A>T (p.Lys722Ter) http://identifiers.org/clinvar/64698 ^@ NM_000368.4(TSC1):c.2626-4T(17_21) http://identifiers.org/clinvar/64699 ^@ NM_000368.4(TSC1):c.853T>G (p.Phe285Val) http://identifiers.org/clinvar/64700 ^@ NM_000368.4(TSC1):c.106+47A>C http://identifiers.org/clinvar/64701 ^@ NM_000368.4(TSC1):c.325C>T (p.Gln109Ter) http://identifiers.org/clinvar/64702 ^@ NM_000368.4(TSC1):c.211-11dup http://identifiers.org/clinvar/64703 ^@ NM_000368.4(TSC1):c.260T>G (p.Leu87Ter) http://identifiers.org/clinvar/64704 ^@ NM_000368.4(TSC1):c.397G>A (p.Val133Ile) http://identifiers.org/clinvar/64705 ^@ NM_000368.4(TSC1):c.1703dupG (p.Asp569Argfs) http://identifiers.org/clinvar/64706 ^@ NM_000368.4(TSC1):c.1250delC (p.Thr417Asnfs) http://identifiers.org/clinvar/64707 ^@ NM_000368.4(TSC1):c.2103_2106dupGTTA (p.Leu703Valfs) http://identifiers.org/clinvar/64708 ^@ NM_000368.4(TSC1):c.2329delA (p.Ser777Alafs) http://identifiers.org/clinvar/64709 ^@ NM_000368.4(TSC1):c.*2230A>G http://identifiers.org/clinvar/64710 ^@ NM_000368.4(TSC1):c.2505C>T (p.Leu835=) http://identifiers.org/clinvar/64711 ^@ NM_000368.4(TSC1):c.*3260G>C http://identifiers.org/clinvar/64712 ^@ NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) http://identifiers.org/clinvar/64713 ^@ NM_000368.4(TSC1):c.395G>A (p.Gly132Asp) http://identifiers.org/clinvar/64714 ^@ p.(=) http://identifiers.org/clinvar/64715 ^@ NM_000368.4(TSC1):c.914-88_914-58T(27_30) http://identifiers.org/clinvar/64716 ^@ NM_000368.4(TSC1):c.2387dupT (p.Leu796Phefs) http://identifiers.org/clinvar/64717 ^@ NM_000368.4(TSC1):c.*3935C>T http://identifiers.org/clinvar/64718 ^@ NM_000368.4(TSC1):c.2658delA (p.Glu887Serfs) http://identifiers.org/clinvar/64719 ^@ NM_000368.4(TSC1):c.2080C>T (p.Gln694Ter) http://identifiers.org/clinvar/64720 ^@ NM_000368.4(TSC1):c.-129A>T http://identifiers.org/clinvar/64721 ^@ NM_000368.4(TSC1):c.*1396T>C http://identifiers.org/clinvar/64722 ^@ NM_000368.4(TSC1):c.2101_2107delCAGTTAC (p.Gln701Serfs) http://identifiers.org/clinvar/64723 ^@ NM_000368.4(TSC1):c.1249delA (p.Thr417Hisfs) http://identifiers.org/clinvar/64724 ^@ NM_000368.4(TSC1):c.1964delA (p.Gln655Argfs) http://identifiers.org/clinvar/64725 ^@ NM_000368.4(TSC1):c.530delT (p.Leu177Profs) http://identifiers.org/clinvar/64726 ^@ NM_000368.4(TSC1):c.324_325delTC (p.Gln109Serfs) http://identifiers.org/clinvar/64727 ^@ NM_000368.4(TSC1):c.*2893delA http://identifiers.org/clinvar/64728 ^@ NM_000368.4(TSC1):c.-16G>A http://identifiers.org/clinvar/64729 ^@ NM_000368.4(TSC1):c.1884_1905del22 (p.Lys629Argfs) http://identifiers.org/clinvar/64730 ^@ NM_000368.4(TSC1):c.1452delA (p.Glu485Asnfs) http://identifiers.org/clinvar/64731 ^@ NM_000368.4(TSC1):c.396C>T (p.Gly132=) http://identifiers.org/clinvar/64732 ^@ NM_000368.4(TSC1):c.1366_1367delCT (p.Leu456Lysfs) http://identifiers.org/clinvar/64733 ^@ NM_000368.4(TSC1):c.2050_2052delCCT (p.Pro684del) http://identifiers.org/clinvar/64734 ^@ NM_000368.4(TSC1):c.2077G>C (p.Asp693His) http://identifiers.org/clinvar/64735 ^@ NM_000368.4(TSC1):c.2478G>C (p.Leu826=) http://identifiers.org/clinvar/64736 ^@ NM_000368.4(TSC1):c.1911delA (p.Asp638Metfs) http://identifiers.org/clinvar/64737 ^@ NM_000368.4(TSC1):c.*1487C>T http://identifiers.org/clinvar/64738 ^@ NM_000368.4(TSC1):c.508+1G>A http://identifiers.org/clinvar/64739 ^@ NM_000368.4(TSC1):c.*1468C>T http://identifiers.org/clinvar/64740 ^@ NM_000368.4(TSC1):c.*358C>T http://identifiers.org/clinvar/64741 ^@ NM_000368.4(TSC1):c.2093T>G (p.Leu698Arg) http://identifiers.org/clinvar/64742 ^@ NM_000368.4(TSC1):c.2146_2153dupAACAGGCG (p.Leu719Thrfs) http://identifiers.org/clinvar/64743 ^@ NM_000368.4(TSC1):c.1439-1G>A http://identifiers.org/clinvar/64744 ^@ NM_000368.4(TSC1):c.2652T>A (p.Tyr884Ter) http://identifiers.org/clinvar/64745 ^@ NM_000368.4(TSC1):c.3436G>T (p.Asp1146Tyr) http://identifiers.org/clinvar/64746 ^@ NM_000368.4(TSC1):c.966G>A (p.Met322Ile) http://identifiers.org/clinvar/64747 ^@ NM_000368.4(TSC1):c.915G>A (p.Gly305=) http://identifiers.org/clinvar/64748 ^@ NM_000368.4(TSC1):c.1007G>A (p.Arg336Gln) http://identifiers.org/clinvar/64749 ^@ NM_000368.4(TSC1):c.2502+51A>G http://identifiers.org/clinvar/64750 ^@ NM_000368.4(TSC1):c.231C>T (p.Asn77=) http://identifiers.org/clinvar/64751 ^@ NM_000368.4(TSC1):c.1572C>G (p.Ser524=) http://identifiers.org/clinvar/64752 ^@ NM_000368.4(TSC1):c.182T>G (p.Leu61Arg) http://identifiers.org/clinvar/64753 ^@ NM_000368.4(TSC1):c.1766delC (p.Pro589Hisfs) http://identifiers.org/clinvar/64754 ^@ NM_000368.4(TSC1):c.3127_3129delAGC (p.Ser1043del) http://identifiers.org/clinvar/64755 ^@ NM_000368.4(TSC1):c.1439-25C>A http://identifiers.org/clinvar/64756 ^@ NM_000368.4:c.2626_2975del http://identifiers.org/clinvar/64757 ^@ NM_000368.4(TSC1):c.2431C>G (p.Arg811Gly) http://identifiers.org/clinvar/64758 ^@ NM_000368.4(TSC1):c.1876G>T (p.Glu626Ter) http://identifiers.org/clinvar/64759 ^@ NM_000368.4(TSC1):c.1584C>T (p.Gly528=) http://identifiers.org/clinvar/64760 ^@ NM_000368.4(TSC1):c.712A>T (p.Lys238Ter) http://identifiers.org/clinvar/64761 ^@ NM_000368.4(TSC1):c.2033_2041+14del http://identifiers.org/clinvar/64762 ^@ NM_000368.4(TSC1):c.211-1G>T http://identifiers.org/clinvar/64763 ^@ NM_000368.4(TSC1):c.1680_1702del23 (p.Ser561Argfs) http://identifiers.org/clinvar/64764 ^@ NM_000368.4(TSC1):c.1882T>C (p.Leu628=) http://identifiers.org/clinvar/64765 ^@ NM_000368.4(TSC1):c.1141+1G>T http://identifiers.org/clinvar/64766 ^@ NM_000368.4(TSC1):c.2191G>T (p.Glu731Ter) http://identifiers.org/clinvar/64767 ^@ NM_000368.4:c.2626_3495del http://identifiers.org/clinvar/64768 ^@ NM_000368.4(TSC1):c.*4591G>T http://identifiers.org/clinvar/64769 ^@ NM_000368.4(TSC1):c.2392-1G>A http://identifiers.org/clinvar/64770 ^@ NM_000368.4(TSC1):c.1535_1536delTC (p.Leu512Profs) http://identifiers.org/clinvar/64771 ^@ NM_000368.4(TSC1):c.738-20A>G http://identifiers.org/clinvar/64772 ^@ NM_000368.4(TSC1):c.*913C>T http://identifiers.org/clinvar/64773 ^@ NM_000368.4(TSC1):c.2523C>T (p.Val841=) http://identifiers.org/clinvar/64774 ^@ NM_000368.4(TSC1):c.921T>C (p.Ala307=) http://identifiers.org/clinvar/64775 ^@ NM_000368.4(TSC1):c.*2641G>T http://identifiers.org/clinvar/64776 ^@ NM_000368.4(TSC1):c.2657_2658delAA (p.Lys886Argfs) http://identifiers.org/clinvar/64777 ^@ NM_000368.4(TSC1):c.1664delT (p.Ile555Lysfs) http://identifiers.org/clinvar/64778 ^@ NM_000368.4(TSC1):c.658G>T (p.Val220Phe) http://identifiers.org/clinvar/64779 ^@ NM_000368.4(TSC1):c.3147G>C (p.Glu1049Asp) http://identifiers.org/clinvar/64780 ^@ NM_000368.4(TSC1):c.1166delG (p.Gly389Glufs) http://identifiers.org/clinvar/64781 ^@ NM_000368.4(TSC1):c.663+10A>C http://identifiers.org/clinvar/64782 ^@ NM_000368.4(TSC1):c.-7C>T http://identifiers.org/clinvar/64783 ^@ NM_000368.4(TSC1):c.611G>C (p.Arg204Pro) http://identifiers.org/clinvar/64784 ^@ NM_000368.4(TSC1):c.2070_2097dup28 (p.Asn700Profs) http://identifiers.org/clinvar/64785 ^@ NM_000368.4(TSC1):c.648delT (p.Phe216Leufs) http://identifiers.org/clinvar/64786 ^@ NM_000368.4(TSC1):c.591dupC (p.Asn198Glnfs) http://identifiers.org/clinvar/64787 ^@ NM_000368.4(TSC1):c.624delT (p.Ser208Argfs) http://identifiers.org/clinvar/64788 ^@ NM_000368.4(TSC1):c.2106delAinsGT (p.Leu703Serfs) http://identifiers.org/clinvar/64789 ^@ NM_000368.4(TSC1):c.738-36_747del http://identifiers.org/clinvar/64790 ^@ NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) http://identifiers.org/clinvar/64791 ^@ NM_000368.4(TSC1):c.*1332C>T http://identifiers.org/clinvar/64792 ^@ NM_000368.4(TSC1):c.2041+1G>A http://identifiers.org/clinvar/64793 ^@ NM_000368.4(TSC1):c.376G>A (p.Val126Ile) http://identifiers.org/clinvar/64794 ^@ NM_000368.4(TSC1):c.*361C>T http://identifiers.org/clinvar/64795 ^@ NM_000368.4(TSC1):c.2781_2784delGAAA (p.Lys927Asnfs) http://identifiers.org/clinvar/64796 ^@ NM_000368.4(TSC1):c.1759A>T (p.Lys587Ter) http://identifiers.org/clinvar/64797 ^@ NM_000368.4(TSC1):c.2626-1G>A http://identifiers.org/clinvar/64798 ^@ NM_000368.4(TSC1):c.1343C>T (p.Pro448Leu) http://identifiers.org/clinvar/64799 ^@ NM_000368.4(TSC1):c.1007_1016delGGCTGATAAC (p.Arg336Leufs) http://identifiers.org/clinvar/64800 ^@ NM_000368.4(TSC1):c.2521dupG (p.Val841Glyfs) http://identifiers.org/clinvar/64801 ^@ NM_000368.4(TSC1):c.737+1del (p.Arg246Serfs) http://identifiers.org/clinvar/64802 ^@ NM_000368.4(TSC1):c.385dupC (p.Leu129Profs) http://identifiers.org/clinvar/64803 ^@ NM_000368.4(TSC1):c.*3936C>T http://identifiers.org/clinvar/64804 ^@ NM_000368.4(TSC1):c.1849C>G (p.His617Asp) http://identifiers.org/clinvar/64805 ^@ NM_000368.4(TSC1):c.2342_2343insAA (p.Leu782Serfs) http://identifiers.org/clinvar/64806 ^@ NM_000368.4(TSC1):c.1368A>C (p.Leu456=) http://identifiers.org/clinvar/64807 ^@ NM_000368.4(TSC1):c.1439-2A>T http://identifiers.org/clinvar/64808 ^@ NM_000368.4(TSC1):c.1757_1768delGTAAAATTCCACinsCA (p.Cys586Serfs) http://identifiers.org/clinvar/64809 ^@ NM_000368.4(TSC1):c.1431dupA (p.Glu478Argfs) http://identifiers.org/clinvar/64810 ^@ NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) http://identifiers.org/clinvar/64811 ^@ NM_000368.4(TSC1):c.1997+17C>G http://identifiers.org/clinvar/64812 ^@ NM_000368.4(TSC1):c.146delA (p.Tyr49Serfs) http://identifiers.org/clinvar/64813 ^@ NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) http://identifiers.org/clinvar/64814 ^@ NM_000368.4(TSC1):c.346T>G (p.Leu116Val) http://identifiers.org/clinvar/64815 ^@ NM_000368.4(TSC1):c.1922C>A (p.Pro641His) http://identifiers.org/clinvar/64816 ^@ NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) http://identifiers.org/clinvar/64817 ^@ NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) http://identifiers.org/clinvar/64818 ^@ NM_000368.4(TSC1):c.542A>C (p.His181Pro) http://identifiers.org/clinvar/64819 ^@ NM_000368.4(TSC1):c.2096_2097ins28 (p.?) http://identifiers.org/clinvar/64820 ^@ NM_000368.4(TSC1):c.2582delT (p.Leu861Profs) http://identifiers.org/clinvar/64821 ^@ NM_000368.4(TSC1):c.2976-18T>C http://identifiers.org/clinvar/64822 ^@ NM_000368.4(TSC1):c.866C>G (p.Ser289Ter) http://identifiers.org/clinvar/64823 ^@ NM_000368.4(TSC1):c.590dupG (p.Cys197Trpfs) http://identifiers.org/clinvar/64824 ^@ NM_000368.4(TSC1):c.2046_2047delTC (p.Pro683Serfs) http://identifiers.org/clinvar/64825 ^@ NM_000368.4(TSC1):c.989delT (p.Leu330Argfs) http://identifiers.org/clinvar/64826 ^@ NM_000368.4(TSC1):c.2698C>T (p.Gln900Ter) http://identifiers.org/clinvar/64827 ^@ NM_000368.4(TSC1):c.814G>T (p.Glu272Ter) http://identifiers.org/clinvar/64828 ^@ NM_000368.4(TSC1):c.2749G>C (p.Ala917Pro) http://identifiers.org/clinvar/64829 ^@ NM_000368.4(TSC1):c.276_277insAA (p.Leu93Asnfs) http://identifiers.org/clinvar/64830 ^@ NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter) http://identifiers.org/clinvar/64831 ^@ NM_000368.4(TSC1):c.2485A>T (p.Ser829Cys) http://identifiers.org/clinvar/64832 ^@ NM_000368.4(TSC1):c.*107T>C http://identifiers.org/clinvar/64833 ^@ NM_000368.4(TSC1):c.663+29A>G http://identifiers.org/clinvar/64834 ^@ NM_000368.4(TSC1):c.2672delA (p.Asn891Thrfs) http://identifiers.org/clinvar/64835 ^@ NM_000368.4(TSC1):c.1515_1516dupTC (p.Pro506Leufs) http://identifiers.org/clinvar/64836 ^@ NM_000368.4(TSC1):c.737+1G>T http://identifiers.org/clinvar/64837 ^@ NM_000368.4(TSC1):c.473T>C (p.Phe158Ser) http://identifiers.org/clinvar/64838 ^@ NM_000368.4(TSC1):c.1503delA (p.Gly502Alafs) http://identifiers.org/clinvar/64839 ^@ NM_000368.4(TSC1):c.1998-53G>A http://identifiers.org/clinvar/64840 ^@ NM_000368.4(TSC1):c.*3258G>C http://identifiers.org/clinvar/64841 ^@ NM_000368.4(TSC1):c.2226A>G (p.Leu742=) http://identifiers.org/clinvar/64842 ^@ NM_000368.4(TSC1):c.2776C>T (p.Gln926Ter) http://identifiers.org/clinvar/64843 ^@ NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) http://identifiers.org/clinvar/64844 ^@ NM_000548.4(TSC2):c.1150G>A (p.Val384Ile) http://identifiers.org/clinvar/64845 ^@ NM_000548.4(TSC2):c.*67_*69delTGAins5 http://identifiers.org/clinvar/64846 ^@ NM_000548.3:c.971_1027del http://identifiers.org/clinvar/64847 ^@ NM_000548.4(TSC2):c.3871G>A (p.Val1291Ile) http://identifiers.org/clinvar/64848 ^@ NM_000548.4(TSC2):c.2097+28G>A http://identifiers.org/clinvar/64849 ^@ NM_000548.4(TSC2):c.2148_2149insGAGTCCC (p.Leu717Glufs) http://identifiers.org/clinvar/64850 ^@ NM_000548.4(TSC2):c.5068+40G>A http://identifiers.org/clinvar/64851 ^@ NM_000548.4(TSC2):c.1656A>G (p.Ala552=) http://identifiers.org/clinvar/64852 ^@ NM_000548.4(TSC2):c.912G>A (p.Trp304Ter) http://identifiers.org/clinvar/64853 ^@ NM_000548.4(TSC2):c.1583_1584delTG (p.Leu528Argfs) http://identifiers.org/clinvar/64854 ^@ NM_000548.4(TSC2):c.3285-16G>A http://identifiers.org/clinvar/64855 ^@ NM_000548.4(TSC2):c.3124_3125ins20 http://identifiers.org/clinvar/64856 ^@ NM_000548.4(TSC2):c.3281C>T (p.Ser1094Leu) http://identifiers.org/clinvar/64857 ^@ NM_000548.4(TSC2):c.4813C>T (p.Gln1605Ter) http://identifiers.org/clinvar/64858 ^@ NM_000548.4(TSC2):c.4777dupT (p.Tyr1593Leufs) http://identifiers.org/clinvar/64859 ^@ NM_000548.4(TSC2):c.1100G>C (p.Arg367Pro) http://identifiers.org/clinvar/64860 ^@ NM_000548.4(TSC2):c.2427C>T (p.Ser809=) http://identifiers.org/clinvar/64861 ^@ NM_000548.4(TSC2):c.4493+25G>T http://identifiers.org/clinvar/64862 ^@ NM_000548.4(TSC2):c.*102+52dup http://identifiers.org/clinvar/64863 ^@ NM_000548.4(TSC2):c.2967-?_3610+?del http://identifiers.org/clinvar/64864 ^@ NM_000548.4(TSC2):c.1257+2T>G http://identifiers.org/clinvar/64865 ^@ NM_000548.4(TSC2):c.4937T>G (p.Val1646Gly) http://identifiers.org/clinvar/64866 ^@ NM_000548.4(TSC2):c.720_722delCGT (p.Val241del) http://identifiers.org/clinvar/64867 ^@ NM_000548.4(TSC2):c.3132-10T>C http://identifiers.org/clinvar/64868 ^@ NM_000548.4(TSC2):c.5017G>A (p.Val1673Ile) http://identifiers.org/clinvar/64869 ^@ NM_000548.4(TSC2):c.3359T>A (p.Val1120Glu) http://identifiers.org/clinvar/64870 ^@ NM_000548.4(TSC2):c.5068+16dup http://identifiers.org/clinvar/64871 ^@ NM_000548.4(TSC2):c.1221C>A (p.Tyr407Ter) http://identifiers.org/clinvar/64872 ^@ NM_000548.4(TSC2):c.2879C>T (p.Ser960Phe) http://identifiers.org/clinvar/64873 ^@ NM_000548.4(TSC2):c.599+3A>G http://identifiers.org/clinvar/64874 ^@ NM_000548.4(TSC2):c.2670delT (p.His891Thrfs) http://identifiers.org/clinvar/64875 ^@ NM_000548.4(TSC2):c.3482C>T (p.Ala1161Val) http://identifiers.org/clinvar/64876 ^@ NM_000548.4(TSC2):c.3814+1G>A http://identifiers.org/clinvar/64877 ^@ NM_000548.4(TSC2):c.187delC (p.Gln63Argfs) http://identifiers.org/clinvar/64878 ^@ NM_000548.4(TSC2):c.3653_3670del18 (p.Pro1218_Asn1224delinsHis) http://identifiers.org/clinvar/64879 ^@ NM_000548.4(TSC2):c.1820C>A (p.Ala607Glu) http://identifiers.org/clinvar/64880 ^@ NM_000548.4(TSC2):c.4711T>A (p.Tyr1571Asn) http://identifiers.org/clinvar/242662 ^@ NM_000548.4(TSC2):c.3745_3756dupCTGTACAAGTCA (p.Leu1253_Ser1254insTyrLysSerLeu) http://identifiers.org/clinvar/242661 ^@ NM_000548.4(TSC2):c.3623_3647del25 (p.Trp1208Serfs) http://identifiers.org/clinvar/64882 ^@ NM_000548.4(TSC2):c.2183G>T (p.Cys728Phe) http://identifiers.org/clinvar/64883 ^@ NM_000548.4(TSC2):c.775-3C>G http://identifiers.org/clinvar/64884 ^@ NM_000548.4(TSC2):c.3961G>T (p.Glu1321Ter) http://identifiers.org/clinvar/64885 ^@ NM_000548.4(TSC2):c.1447G>T (p.Glu483Ter) http://identifiers.org/clinvar/64886 ^@ NM_000548.4(TSC2):c.2424_2426delGTCinsT (p.Leu808Phefs) http://identifiers.org/clinvar/64887 ^@ NM_000548.4(TSC2):c.258G>A (p.Ala86=) http://identifiers.org/clinvar/64888 ^@ NM_000548.4(TSC2):c.2688G>A (p.Trp896Ter) http://identifiers.org/clinvar/64889 ^@ NM_000548.4(TSC2):c.1864C>T (p.Arg622Trp) http://identifiers.org/clinvar/64890 ^@ p.? http://identifiers.org/clinvar/64891 ^@ NM_000548.4(TSC2):c.5024delC (p.Pro1675Argfs) http://identifiers.org/clinvar/64892 ^@ NM_000548.4(TSC2):c.3943C>G (p.Pro1315Ala) http://identifiers.org/clinvar/64893 ^@ NM_000548.4(TSC2):c.1716G>A (p.Gln572=) http://identifiers.org/clinvar/64894 ^@ NM_000548.4(TSC2):c.2639+15C>T http://identifiers.org/clinvar/64895 ^@ NM_000548.4(TSC2):c.1840-2A>G http://identifiers.org/clinvar/64896 ^@ NM_000548.4(TSC2):c.343delC (p.Arg115Valfs) http://identifiers.org/clinvar/64897 ^@ NM_000548.4(TSC2):c.3182T>C (p.Leu1061Pro) http://identifiers.org/clinvar/64898 ^@ NM_000548.3(TSC2):c.1258-?_1599+?del (p.?) http://identifiers.org/clinvar/64899 ^@ NM_000548.4(TSC2):c.2097+43A>G http://identifiers.org/clinvar/64900 ^@ NM_000548.4(TSC2):c.665_671delTGGACGC (p.Leu222Profs) http://identifiers.org/clinvar/64901 ^@ NM_000548.4(TSC2):c.1583T>C (p.Leu528Pro) http://identifiers.org/clinvar/64902 ^@ NM_000548.4(TSC2):c.5069-14_5069-12del http://identifiers.org/clinvar/64903 ^@ NM_000548.4(TSC2):c.1005C>G (p.Ser335=) http://identifiers.org/clinvar/64904 ^@ NM_000548.4(TSC2):c.5269_5270dupGA (p.Ala1758Lysfs) http://identifiers.org/clinvar/64905 ^@ NM_000548.4(TSC2):c.824_826delACA (p.Asn275del) http://identifiers.org/clinvar/64906 ^@ NM_000548.4(TSC2):c.1862T>C (p.Leu621Pro) http://identifiers.org/clinvar/64907 ^@ NM_000548.4(TSC2):c.4663-1G>C http://identifiers.org/clinvar/64908 ^@ NM_000548.4(TSC2):c.4878_4881delCACC (p.Thr1627Argfs) http://identifiers.org/clinvar/64909 ^@ NM_000548.4(TSC2):c.1507C>T (p.Gln503Ter) http://identifiers.org/clinvar/64910 ^@ NM_000548.4(TSC2):c.4663-3C>G http://identifiers.org/clinvar/64911 ^@ NM_000548.4(TSC2):c.1630delG (p.Glu544Serfs) http://identifiers.org/clinvar/64912 ^@ NM_000548.4(TSC2):c.4493+87del http://identifiers.org/clinvar/64913 ^@ NM_000548.4(TSC2):c.245G>A (p.Trp82Ter) http://identifiers.org/clinvar/64914 ^@ NM_000548.4(TSC2):c.859G>T (p.Glu287Ter) http://identifiers.org/clinvar/64915 ^@ NM_000548.4(TSC2):c.1361+2T>G http://identifiers.org/clinvar/64916 ^@ NM_000548.4(TSC2):c.4183_4195delCAGGACATCCTCG (p.Gln1395Glyfs) http://identifiers.org/clinvar/64917 ^@ NM_000548.4(TSC2):c.3131G>T (p.Arg1044Met) http://identifiers.org/clinvar/64918 ^@ NM_000548.4(TSC2):c.4752delG (p.Lys1585Argfs) http://identifiers.org/clinvar/64919 ^@ NM_000548.4(TSC2):c.3364C>T (p.Arg1122Cys) http://identifiers.org/clinvar/64920 ^@ NM_000548.4(TSC2):c.4351delC (p.Arg1451Alafs) http://identifiers.org/clinvar/64921 ^@ NM_000548.4(TSC2):c.2531T>C (p.Leu844Pro) http://identifiers.org/clinvar/64922 ^@ NM_000548.4(TSC2):c.4006-2A>G http://identifiers.org/clinvar/64923 ^@ NM_000548.4(TSC2):c.2375T>G (p.Leu792Arg) http://identifiers.org/clinvar/64924 ^@ NM_000548.4(TSC2):c.4654G>T (p.Glu1552Ter) http://identifiers.org/clinvar/64925 ^@ NM_000548.4(TSC2):c.2635_2636insA (p.Ser879Tyrfs) http://identifiers.org/clinvar/64926 ^@ NM_000548.4(TSC2):c.2498delT (p.Ile833Thrfs) http://identifiers.org/clinvar/64927 ^@ NM_000548.4(TSC2):c.3377A>T (p.Asp1126Val) http://identifiers.org/clinvar/64928 ^@ NM_000548.3:c.[2355+2_2355+5del(+)2355+6_2355+15dup] http://identifiers.org/clinvar/64929 ^@ NM_000548.4(TSC2):c.2257dupG (p.Ala753Glyfs) http://identifiers.org/clinvar/64930 ^@ NM_000548.4(TSC2):c.4085T>A (p.Val1362Asp) http://identifiers.org/clinvar/64931 ^@ NM_000548.4(TSC2):c.1505delA (p.His502Profs) http://identifiers.org/clinvar/64932 ^@ NM_000548.4(TSC2):c.170G>A (p.Arg57His) http://identifiers.org/clinvar/64933 ^@ NM_000548.4(TSC2):c.4494-3_4494-2del http://identifiers.org/clinvar/64934 ^@ NM_000548.4(TSC2):c.19A>T (p.Lys7Ter) http://identifiers.org/clinvar/64935 ^@ NM_000548.4(TSC2):c.3620_3624delGCTGG (p.Ser1207Thrfs) http://identifiers.org/clinvar/64936 ^@ NM_000548.4(TSC2):c.1840-1G>A http://identifiers.org/clinvar/64937 ^@ NM_000548.4(TSC2):c.4309_4312delAGTC (p.Ser1437Glyfs) http://identifiers.org/clinvar/64938 ^@ NM_000548.4(TSC2):c.1443+18C>T http://identifiers.org/clinvar/64939 ^@ NM_000548.4(TSC2):c.5184C>T (p.Ser1728=) http://identifiers.org/clinvar/64940 ^@ NM_000548.4(TSC2):c.1281C>G (p.Ile427Met) http://identifiers.org/clinvar/64941 ^@ NM_000548.4(TSC2):c.727delC (p.Leu243Serfs) http://identifiers.org/clinvar/64942 ^@ NM_000548.4(TSC2):c.704G>A (p.Ser235Asn) http://identifiers.org/clinvar/64943 ^@ NM_000548.4(TSC2):c.45_51delTAAGATT (p.Lys16Cysfs) http://identifiers.org/clinvar/64944 ^@ NM_000548.4(TSC2):c.4375delC (p.Arg1459Glufs) http://identifiers.org/clinvar/64945 ^@ NM_000548.4(TSC2):c.978dupC (p.Met327Hisfs) http://identifiers.org/clinvar/64946 ^@ NM_000548.4(TSC2):c.975+13C>T http://identifiers.org/clinvar/64947 ^@ NM_000548.4(TSC2):c.3943C>T (p.Pro1315Ser) http://identifiers.org/clinvar/64948 ^@ NM_000548.4(TSC2):c.1119+6G>C http://identifiers.org/clinvar/64949 ^@ NM_000548.4(TSC2):c.1566_1567dupCC (p.His523Profs) http://identifiers.org/clinvar/64950 ^@ NM_000548.4(TSC2):c.3221delG (p.Gly1074Glufs) http://identifiers.org/clinvar/64951 ^@ NM_000548.4(TSC2):c.4438_4439insA (p.Leu1480Tyrfs) http://identifiers.org/clinvar/64952 ^@ NM_000548.4(TSC2):c.1922G>T (p.Ser641Ile) http://identifiers.org/clinvar/64953 ^@ NM_000548.4(TSC2):c.4598_4599ins29 http://identifiers.org/clinvar/64954 ^@ NM_000548.4(TSC2):c.1789_1791dupCAC (p.His597_Tyr598insHis) http://identifiers.org/clinvar/64955 ^@ NM_000548.4(TSC2):c.4828T>G (p.Trp1610Gly) http://identifiers.org/clinvar/64956 ^@ NM_000548.4(TSC2):c.1040A>G (p.Lys347Arg) http://identifiers.org/clinvar/64957 ^@ NM_000548.4(TSC2):c.2149delC (p.Leu717Cysfs) http://identifiers.org/clinvar/64958 ^@ NM_000548.4(TSC2):c.2859C>T (p.Pro953=) http://identifiers.org/clinvar/64959 ^@ NM_000548.4(TSC2):c.482-59G>A http://identifiers.org/clinvar/64960 ^@ NM_000548.4(TSC2):c.975+1G>T http://identifiers.org/clinvar/64961 ^@ NM_000548.4(TSC2):c.4403_4404ins27 http://identifiers.org/clinvar/64962 ^@ NM_000548.4(TSC2):c.5160+2dup http://identifiers.org/clinvar/64963 ^@ NM_000548.4(TSC2):c.1143delG (p.Thr382Profs) http://identifiers.org/clinvar/64964 ^@ NM_000548.4(TSC2):c.4493+1del http://identifiers.org/clinvar/64965 ^@ NM_000548.4(TSC2):c.5402_5403delAG (p.Glu1801Glyfs) http://identifiers.org/clinvar/64966 ^@ NM_000548.4(TSC2):c.5192delA (p.Asn1731Thrfs) http://identifiers.org/clinvar/64967 ^@ NM_000548.4(TSC2):c.5143A>G (p.Met1715Val) http://identifiers.org/clinvar/64968 ^@ NM_000548.4(TSC2):c.388delT (p.Tyr130Thrfs) http://identifiers.org/clinvar/64969 ^@ NM_000548.4(TSC2):c.4146_4162dup17 (p.Ser1388Terfs) http://identifiers.org/clinvar/64970 ^@ NM_000548.4(TSC2):c.4383C>G (p.Tyr1461Ter) http://identifiers.org/clinvar/64971 ^@ NM_000548.4(TSC2):c.3397+5G>T http://identifiers.org/clinvar/64972 ^@ NM_000548.4(TSC2):c.3310C>T (p.Gln1104Ter) http://identifiers.org/clinvar/64973 ^@ NM_000548.4(TSC2):c.3623G>A (p.Trp1208Ter) http://identifiers.org/clinvar/64974 ^@ NM_000548.4(TSC2):c.4709G>C (p.Arg1570Thr) http://identifiers.org/clinvar/64975 ^@ NM_000548.4(TSC2):c.957_958delGT (p.Leu320Alafs) http://identifiers.org/clinvar/64976 ^@ NM_000548.4(TSC2):c.1609C>T (p.Arg537Cys) http://identifiers.org/clinvar/64977 ^@ NM_000548.4(TSC2):c.4850-3C>G http://identifiers.org/clinvar/64978 ^@ NM_000548.4(TSC2):c.5057A>C (p.Gln1686Pro) http://identifiers.org/clinvar/64979 ^@ NM_000548.4(TSC2):c.2315C>A (p.Ala772Glu) http://identifiers.org/clinvar/64980 ^@ NM_000548.4(TSC2):c.3022G>A (p.Val1008Met) http://identifiers.org/clinvar/64981 ^@ NM_000548.4(TSC2):c.896T>G (p.Val299Gly) http://identifiers.org/clinvar/64982 ^@ NM_000548.4(TSC2):c.825C>G (p.Asn275Lys) http://identifiers.org/clinvar/64983 ^@ NM_000548.4(TSC2):c.5131G>A (p.Val1711Met) http://identifiers.org/clinvar/64984 ^@ NM_000548.4(TSC2):c.1257+107dup http://identifiers.org/clinvar/64985 ^@ NM_000548.4(TSC2):c.4640T>G (p.Val1547Gly) http://identifiers.org/clinvar/64986 ^@ NM_000548.4(TSC2):c.1492G>A (p.Glu498Lys) http://identifiers.org/clinvar/64987 ^@ NM_000548.4(TSC2):c.336+61C>T http://identifiers.org/clinvar/64988 ^@ NM_000548.4(TSC2):c.481+5G>A http://identifiers.org/clinvar/64989 ^@ NM_000548.4(TSC2):c.4494-2A>C http://identifiers.org/clinvar/64990 ^@ NM_000548.4(TSC2):c.649-26G>T http://identifiers.org/clinvar/64991 ^@ NM_000548.4(TSC2):c.2451C>T (p.Asp817=) http://identifiers.org/clinvar/64992 ^@ NM_000548.4(TSC2):c.1564C>T (p.His522Tyr) http://identifiers.org/clinvar/64993 ^@ NM_000548.4(TSC2):c.4705_4706dupTA (p.Arg1570Thrfs) http://identifiers.org/clinvar/64994 ^@ NM_000548.4(TSC2):c.1508delA (p.Gln503Argfs) http://identifiers.org/clinvar/64995 ^@ NM_000548.4(TSC2):c.2370C>A (p.Tyr790Ter) http://identifiers.org/clinvar/64996 ^@ NM_000548.4(TSC2):c.1514G>A (p.Arg505Gln) http://identifiers.org/clinvar/64997 ^@ NM_000548.4(TSC2):c.2963G>C (p.Arg988Pro) http://identifiers.org/clinvar/64998 ^@ NM_000548.4(TSC2):c.1946+1G>C http://identifiers.org/clinvar/64999 ^@ NM_000548.4(TSC2):c.4849+97del http://identifiers.org/clinvar/65000 ^@ NM_000548.4(TSC2):c.2380dupC (p.Gln794Profs) http://identifiers.org/clinvar/65001 ^@ NM_000548.4(TSC2):c.849-24C>T http://identifiers.org/clinvar/65002 ^@ NM_000548.4(TSC2):c.437T>G (p.Leu146Arg) http://identifiers.org/clinvar/65003 ^@ NM_000548.4(TSC2):c.4078G>T (p.Glu1360Ter) http://identifiers.org/clinvar/65004 ^@ NM_000548.4(TSC2):c.1257+21G>A http://identifiers.org/clinvar/65005 ^@ NM_000548.4(TSC2):c.3884-1G>C http://identifiers.org/clinvar/65006 ^@ NM_000548.4(TSC2):c.4905C>A (p.Cys1635Ter) http://identifiers.org/clinvar/65007 ^@ NM_000548.4(TSC2):c.2677delA (p.Ile893Terfs) http://identifiers.org/clinvar/65008 ^@ NM_000548.4(TSC2):c.2838-4A>C http://identifiers.org/clinvar/65009 ^@ NM_000548.4(TSC2):c.5230_5236delCTCCGCC (p.Leu1744Thrfs) http://identifiers.org/clinvar/65010 ^@ NM_000548.4(TSC2):c.1716+28C>A http://identifiers.org/clinvar/65011 ^@ NM_000548.4(TSC2):c.1007_1008delAT (p.Tyr336Terfs) http://identifiers.org/clinvar/65012 ^@ NM_000548.4(TSC2):c.4024C>T (p.Gln1342Ter) http://identifiers.org/clinvar/65013 ^@ NM_000548.4(TSC2):c.4401_4402insT (p.Pro1468Serfs) http://identifiers.org/clinvar/65014 ^@ NM_000548.4(TSC2):c.4621delG (p.Asp1541Thrfs) http://identifiers.org/clinvar/65015 ^@ NM_000548.4(TSC2):c.5069-47_5069-13dup http://identifiers.org/clinvar/65016 ^@ NM_000548.4(TSC2):c.2713delC (p.Arg905Glyfs) http://identifiers.org/clinvar/65017 ^@ NM_000548.4(TSC2):c.*6G>A http://identifiers.org/clinvar/65018 ^@ NM_000548.4(TSC2):c.1752G>A (p.Thr584=) http://identifiers.org/clinvar/65019 ^@ NM_000548.4(TSC2):c.4147_4163dup17 (p.Pro1389Alafs) http://identifiers.org/clinvar/65020 ^@ NM_000548.4(TSC2):c.3637delG (p.Glu1213Argfs) http://identifiers.org/clinvar/65021 ^@ NM_000548.4(TSC2):c.734G>A (p.Arg245His) http://identifiers.org/clinvar/65022 ^@ NM_000548.4(TSC2):c.4006-21C>T http://identifiers.org/clinvar/65023 ^@ NM_000548.4(TSC2):c.3327_3337delGGCCAAGCTGG (p.Ala1110Valfs) http://identifiers.org/clinvar/65024 ^@ NM_000548.4(TSC2):c.4787G>T (p.Gly1596Val) http://identifiers.org/clinvar/65025 ^@ NM_000548.4(TSC2):c.3259delG (p.Glu1087Serfs) http://identifiers.org/clinvar/65026 ^@ NM_000548.4(TSC2):c.1564dupC (p.His522Profs) http://identifiers.org/clinvar/65027 ^@ NM_000548.4(TSC2):c.1872delCinsTT (p.Ser625Phefs) http://identifiers.org/clinvar/65028 ^@ NM_000548.4(TSC2):c.700G>T (p.Glu234Ter) http://identifiers.org/clinvar/65029 ^@ NM_000548.4(TSC2):c.1934dupT (p.Cys646Leufs) http://identifiers.org/clinvar/65030 ^@ NM_000548.4(TSC2):c.45delT (p.Phe15Leufs) http://identifiers.org/clinvar/65031 ^@ NM_000548.4(TSC2):c.5202T>A (p.Asp1734Glu) http://identifiers.org/clinvar/65032 ^@ NM_000548.4(TSC2):c.3814+1G>C http://identifiers.org/clinvar/65033 ^@ NM_000548.4(TSC2):c.340G>T (p.Glu114Ter) http://identifiers.org/clinvar/65034 ^@ NM_000548.4(TSC2):c.3803G>A (p.Arg1268His) http://identifiers.org/clinvar/65035 ^@ NM_000548.4(TSC2):c.3307_3308insC (p.Arg1103Thrfs) http://identifiers.org/clinvar/65036 ^@ NM_000548.4(TSC2):c.4473dupA (p.Val1492Serfs) http://identifiers.org/clinvar/65037 ^@ NM_000548.4(TSC2):c.2647_2648ins24 http://identifiers.org/clinvar/65038 ^@ NM_000548.4(TSC2):c.337-1G>A http://identifiers.org/clinvar/65039 ^@ NM_000548.4(TSC2):c.3224C>T (p.Thr1075Ile) http://identifiers.org/clinvar/65040 ^@ NM_000548.4(TSC2):c.4351dupC (p.Arg1451Profs) http://identifiers.org/clinvar/65041 ^@ NM_000548.4(TSC2):c.3285-63A>G http://identifiers.org/clinvar/65042 ^@ NM_000548.4(TSC2):c.1234delG (p.Glu412Argfs) http://identifiers.org/clinvar/65043 ^@ NM_000548.4(TSC2):c.4647T>A (p.Tyr1549Ter) http://identifiers.org/clinvar/65044 ^@ NM_000548.4(TSC2):c.4095G>A (p.Ser1365=) http://identifiers.org/clinvar/65045 ^@ NM_000548.4(TSC2):c.1478T>C (p.Leu493Pro) http://identifiers.org/clinvar/65046 ^@ NM_000548.4(TSC2):c.3608C>A (p.Thr1203Lys) http://identifiers.org/clinvar/65047 ^@ NM_000548.4(TSC2):c.928dupT (p.Tyr310Leufs) http://identifiers.org/clinvar/65048 ^@ NM_000548.4(TSC2):c.1893dupG (p.Pro632Alafs) http://identifiers.org/clinvar/65049 ^@ NM_000548.4(TSC2):c.334C>T (p.Gln112Ter) http://identifiers.org/clinvar/65050 ^@ NM_000548.4(TSC2):c.4168G>T (p.Glu1390Ter) http://identifiers.org/clinvar/65051 ^@ NM_000548.4(TSC2):c.585C>A (p.Ile195=) http://identifiers.org/clinvar/65052 ^@ NM_000548.4(TSC2):c.684C>A (p.Tyr228Ter) http://identifiers.org/clinvar/65053 ^@ NM_000548.4(TSC2):c.4030G>T (p.Glu1344Ter) http://identifiers.org/clinvar/65054 ^@ NM_000548.4(TSC2):c.3131+2T>C http://identifiers.org/clinvar/65055 ^@ NM_000548.4(TSC2):c.1385_1386dupGC (p.Ile463Alafs) http://identifiers.org/clinvar/65056 ^@ NM_000548.4(TSC2):c.1597A>C (p.Lys533Gln) http://identifiers.org/clinvar/65057 ^@ NM_000548.4(TSC2):c.187C>T (p.Gln63Ter) http://identifiers.org/clinvar/65058 ^@ NM_000548.4(TSC2):c.481+21G>C http://identifiers.org/clinvar/65059 ^@ NM_000548.4(TSC2):c.5068+27_5068+60del34 http://identifiers.org/clinvar/65060 ^@ NM_000548.4(TSC2):c.4409dupG (p.Arg1471Glnfs) http://identifiers.org/clinvar/65061 ^@ NM_000548.4(TSC2):c.171delC (p.Ile58Serfs) http://identifiers.org/clinvar/65062 ^@ NM_000548.4(TSC2):c.226-36_226-35del http://identifiers.org/clinvar/65063 ^@ NM_000548.4(TSC2):c.3259_3261delGAGinsAA (p.Glu1087Asnfs) http://identifiers.org/clinvar/65064 ^@ NM_000548.4(TSC2):c.185G>A (p.Gly62Glu) http://identifiers.org/clinvar/65065 ^@ NM_000548.4(TSC2):c.2750G>A (p.Arg917Gln) http://identifiers.org/clinvar/65066 ^@ NM_000548.4(TSC2):c.2107dupT (p.Trp703Leufs) http://identifiers.org/clinvar/65067 ^@ NM_000548.4(TSC2):c.3294delC (p.Val1100Cysfs) http://identifiers.org/clinvar/65068 ^@ NM_000548.4(TSC2):c.224A>G (p.Glu75Gly) http://identifiers.org/clinvar/65069 ^@ NM_000548.4(TSC2):c.2031dupC (p.Ala678Argfs) http://identifiers.org/clinvar/65070 ^@ NM_000548.4(TSC2):c.4672_4684dupGAGCTCGCCATCC (p.Leu1562Argfs) http://identifiers.org/clinvar/65071 ^@ NM_000548.4(TSC2):c.1947-1G>A http://identifiers.org/clinvar/65072 ^@ NM_000548.4(TSC2):c.3497delC (p.Pro1166Leufs) http://identifiers.org/clinvar/65073 ^@ NM_000548.4(TSC2):c.5204_5207dupTCTA (p.Pro1737Leufs) http://identifiers.org/clinvar/127198 ^@ NM_145343.2(APOL1):c.1200T>G (p.Ile400Met) http://identifiers.org/clinvar/65074 ^@ NM_000548.4(TSC2):c.2665G>C (p.Ala889Pro) http://identifiers.org/clinvar/65075 ^@ NM_000548.4(TSC2):c.1678G>A (p.Val560Met) http://identifiers.org/clinvar/65076 ^@ NM_000548.4(TSC2):c.2546-40_2546-27del http://identifiers.org/clinvar/65077 ^@ NM_000548.4(TSC2):c.138+2_138+3del http://identifiers.org/clinvar/65078 ^@ NM_000548.4(TSC2):c.600-36C>T http://identifiers.org/clinvar/65079 ^@ NM_000548.4(TSC2):c.3991delG (p.Asp1331Metfs) http://identifiers.org/clinvar/65080 ^@ NM_000548.4(TSC2):c.573C>T (p.Leu191=) http://identifiers.org/clinvar/65081 ^@ NM_000548.4(TSC2):c.3605C>A (p.Pro1202His) http://identifiers.org/clinvar/65082 ^@ NM_000548.4(TSC2):c.3239delT (p.Leu1080Tyrfs) http://identifiers.org/clinvar/65083 ^@ NM_000548.4(TSC2):c.3968C>T (p.Ala1323Val) http://identifiers.org/clinvar/65084 ^@ NM_000548.4(TSC2):c.1754G>A (p.Arg585His) http://identifiers.org/clinvar/65085 ^@ NM_000548.4(TSC2):c.1443+2T>G http://identifiers.org/clinvar/65086 ^@ NM_000548.4(TSC2):c.774+24G>T http://identifiers.org/clinvar/65087 ^@ NM_000548.4(TSC2):c.4515C>G (p.Tyr1505Ter) http://identifiers.org/clinvar/65088 ^@ NM_000548.4(TSC2):c.4399dupG (p.Ala1467Glyfs) http://identifiers.org/clinvar/65089 ^@ NM_000548.4(TSC2):c.1257+1G>A http://identifiers.org/clinvar/65090 ^@ NM_000548.4(TSC2):c.1009G>T (p.Glu337Ter) http://identifiers.org/clinvar/65091 ^@ NM_000548.4(TSC2):c.849-1G>C http://identifiers.org/clinvar/65092 ^@ NM_000548.4(TSC2):c.5018T>A (p.Val1673Asp) http://identifiers.org/clinvar/65093 ^@ NM_000548.4(TSC2):c.2114T>A (p.Val705Glu) http://identifiers.org/clinvar/65094 ^@ NM_000548.4(TSC2):c.4266_4272delCCTGGAC (p.Leu1423Glyfs) http://identifiers.org/clinvar/65095 ^@ NM_000548.4(TSC2):c.4643T>C (p.Leu1548Pro) http://identifiers.org/clinvar/65096 ^@ NM_000548.4(TSC2):c.482-5C>T http://identifiers.org/clinvar/65097 ^@ NM_000548.4(TSC2):c.4569+80G>A http://identifiers.org/clinvar/65098 ^@ NM_000548.4(TSC2):c.1875_1876delAC (p.Leu626Alafs) http://identifiers.org/clinvar/65099 ^@ NM_000548.4(TSC2):c.4570-80A>G http://identifiers.org/clinvar/65100 ^@ NM_000548.4(TSC2):c.4207dupG (p.Asp1403Glyfs) http://identifiers.org/clinvar/65101 ^@ NM_000548.4(TSC2):c.2742+5G>A http://identifiers.org/clinvar/65102 ^@ NM_000548.4(TSC2):c.600-15C>T http://identifiers.org/clinvar/65103 ^@ NM_000548.4(TSC2):c.622C>T (p.Arg208Trp) http://identifiers.org/clinvar/65104 ^@ NM_000548.4(TSC2):c.2632C>T (p.Pro878Ser) http://identifiers.org/clinvar/65105 ^@ NM_000548.4(TSC2):c.115delA (p.Ile39Serfs) http://identifiers.org/clinvar/65106 ^@ NM_000548.4(TSC2):c.5118C>T (p.Arg1706=) http://identifiers.org/clinvar/65107 ^@ NM_000548.4(TSC2):c.193delT (p.Cys65Valfs) http://identifiers.org/clinvar/65108 ^@ NM_000548.4(TSC2):c.190A>G (p.Ile64Val) http://identifiers.org/clinvar/65109 ^@ NM_000548.4(TSC2):c.1352_1353delGA (p.Arg451Ilefs) http://identifiers.org/clinvar/65110 ^@ NM_000548.4(TSC2):c.4908C>T (p.Asp1636=) http://identifiers.org/clinvar/65111 ^@ NM_000548.4(TSC2):c.1792_1794delTAC (p.Tyr598del) http://identifiers.org/clinvar/65112 ^@ NM_000548.4(TSC2):c.4855_4857delTTC (p.Phe1619del) http://identifiers.org/clinvar/65113 ^@ NM_000548.4(TSC2):c.120delC (p.Thr41Profs) http://identifiers.org/clinvar/65114 ^@ NM_000548.4(TSC2):c.2531T>G (p.Leu844Arg) http://identifiers.org/clinvar/65115 ^@ NM_000548.4(TSC2):c.2836_2837ins37 http://identifiers.org/clinvar/65116 ^@ NM_000548.4(TSC2):c.4850-23C>T http://identifiers.org/clinvar/65117 ^@ NM_000548.4(TSC2):c.3236C>A (p.Ser1079Ter) http://identifiers.org/clinvar/65118 ^@ NM_000548.4(TSC2):c.4565A>G (p.Asn1522Ser) http://identifiers.org/clinvar/65119 ^@ NM_000548.4(TSC2):c.3596T>G (p.Val1199Gly) http://identifiers.org/clinvar/65120 ^@ NM_000548.4(TSC2):c.1600-30dup http://identifiers.org/clinvar/65121 ^@ NM_000548.4(TSC2):c.2199_2203delGTGCT (p.Ala736Leufs) http://identifiers.org/clinvar/65122 ^@ NM_000548.4(TSC2):c.2098-19A>G http://identifiers.org/clinvar/65123 ^@ NM_000548.4(TSC2):c.114dupT (p.Ile39Tyrfs) http://identifiers.org/clinvar/65124 ^@ NM_000548.4(TSC2):c.1712T>C (p.Leu571Pro) http://identifiers.org/clinvar/65125 ^@ NM_000548.4(TSC2):c.269_272delAGCC (p.Gln90Argfs) http://identifiers.org/clinvar/65126 ^@ NM_000548.4(TSC2):c.4316G>A (p.Gly1439Asp) http://identifiers.org/clinvar/65127 ^@ NM_000548.4(TSC2):c.5331T>C (p.Pro1777=) http://identifiers.org/clinvar/65128 ^@ NM_000548.4(TSC2):c.2837+16G>A http://identifiers.org/clinvar/65129 ^@ NM_000548.4(TSC2):c.3275delC (p.Pro1092Argfs) http://identifiers.org/clinvar/65130 ^@ NM_000548.4(TSC2):c.973C>T (p.Gln325Ter) http://identifiers.org/clinvar/65131 ^@ NM_000548.4(TSC2):c.2661_2707del47 (p.Ala889Profs) http://identifiers.org/clinvar/65132 ^@ NM_000548.4(TSC2):c.570C>A (p.Tyr190Ter) http://identifiers.org/clinvar/65133 ^@ NM_000548.4(TSC2):c.1599+5G>A http://identifiers.org/clinvar/65134 ^@ NM_000548.4(TSC2):c.4935dupT (p.Val1646Cysfs) http://identifiers.org/clinvar/65135 ^@ NM_000548.4(TSC2):c.791_808del18 (p.Leu264_Gly269del) http://identifiers.org/clinvar/65136 ^@ NM_000548.4(TSC2):c.4812C>A (p.Gly1604=) http://identifiers.org/clinvar/65137 ^@ NM_000548.4(TSC2):c.2873A>G (p.Asn958Ser) http://identifiers.org/clinvar/65138 ^@ NM_000548.4(TSC2):c.225+2T>A http://identifiers.org/clinvar/65139 ^@ NM_000548.4(TSC2):c.910_911delTG (p.Trp304Glyfs) http://identifiers.org/clinvar/65140 ^@ NM_000548.4(TSC2):c.975+5G>C http://identifiers.org/clinvar/65141 ^@ NM_000548.4(TSC2):c.3017_3062del46 (p.Asn1006Serfs) http://identifiers.org/clinvar/65142 ^@ NM_000548.4(TSC2):c.3620G>T (p.Ser1207Ile) http://identifiers.org/clinvar/65143 ^@ NM_000548.4(TSC2):c.910T>C (p.Trp304Arg) http://identifiers.org/clinvar/65144 ^@ NM_000548.4(TSC2):c.*127T>C http://identifiers.org/clinvar/65145 ^@ NM_000548.4(TSC2):c.5247delG (p.Leu1750Serfs) http://identifiers.org/clinvar/65146 ^@ NM_000548.4(TSC2):c.5072T>C (p.Met1691Thr) http://identifiers.org/clinvar/65147 ^@ NM_000548.4(TSC2):c.5097G>C (p.Val1699=) http://identifiers.org/clinvar/65148 ^@ NM_000548.4(TSC2):c.3225C>T (p.Thr1075=) http://identifiers.org/clinvar/65149 ^@ NM_000548.4(TSC2):c.4989+2dupT http://identifiers.org/clinvar/65150 ^@ NM_000548.4(TSC2):c.1361+2T>C http://identifiers.org/clinvar/65151 ^@ NM_000548.4(TSC2):c.4850-2A>C http://identifiers.org/clinvar/65152 ^@ NM_000548.4(TSC2):c.465C>T (p.Tyr155=) http://identifiers.org/clinvar/65153 ^@ NM_000548.4(TSC2):c.5017G>T (p.Val1673Phe) http://identifiers.org/clinvar/65154 ^@ NM_000548.4(TSC2):c.2737_2738delAC (p.Thr913Terfs) http://identifiers.org/clinvar/65155 ^@ NM_000548.4(TSC2):c.3605C>G (p.Pro1202Arg) http://identifiers.org/clinvar/65156 ^@ NM_000548.4(TSC2):c.2546-31G>A http://identifiers.org/clinvar/65157 ^@ NM_000548.4(TSC2):c.1717-55T>C http://identifiers.org/clinvar/65158 ^@ NM_000548.4(TSC2):c.1960G>T (p.Gly654Cys) http://identifiers.org/clinvar/65159 ^@ NM_000548.4(TSC2):c.3223_3229dupACCGGGA (p.Thr1077Asnfs) http://identifiers.org/clinvar/65160 ^@ NM_000548.4(TSC2):c.1758_1759dupGT (p.Tyr587Cysfs) http://identifiers.org/clinvar/65161 ^@ NM_000548.4(TSC2):c.4910_4919delAGAAGCGCCA (p.Lys1637Thrfs) http://identifiers.org/clinvar/65162 ^@ NM_000548.4(TSC2):c.337-2A>T http://identifiers.org/clinvar/65163 ^@ NM_000548.4(TSC2):c.3610+42dupC http://identifiers.org/clinvar/65164 ^@ NM_000548.4(TSC2):c.565_575delTGTTACCTCGA (p.Cys189Argfs) http://identifiers.org/clinvar/65165 ^@ NM_000548.4(TSC2):c.2220+2T>G http://identifiers.org/clinvar/65166 ^@ NM_000548.4(TSC2):c.*62_*63delAG http://identifiers.org/clinvar/65167 ^@ NM_000548.4(TSC2):c.1160T>C (p.Leu387Pro) http://identifiers.org/clinvar/65168 ^@ NM_000548.4(TSC2):c.684delC (p.Tyr228Terfs) http://identifiers.org/clinvar/65169 ^@ NM_000548.4(TSC2):c.3376dupG (p.Asp1126Glyfs) http://identifiers.org/clinvar/65170 ^@ NM_000548.4(TSC2):c.1543C>T (p.Leu515=) http://identifiers.org/clinvar/65171 ^@ NM_000548.4(TSC2):c.4088_4095dupTCTCCTCG (p.Glu1366Serfs) http://identifiers.org/clinvar/65172 ^@ NM_000548.4(TSC2):c.3168delG (p.Thr1057Profs) http://identifiers.org/clinvar/65173 ^@ NM_000548.4(TSC2):c.2966+92_2966+94dup http://identifiers.org/clinvar/65174 ^@ NM_000548.4(TSC2):c.4061delG (p.Gly1354Alafs) http://identifiers.org/clinvar/65175 ^@ NM_000548.4(TSC2):c.4073C>T (p.Pro1358Leu) http://identifiers.org/clinvar/65176 ^@ NM_000548.4(TSC2):c.1118A>C (p.Gln373Pro) http://identifiers.org/clinvar/65177 ^@ NM_000548.4(TSC2):c.1804dupT (p.Tyr602Leufs) http://identifiers.org/clinvar/65178 ^@ NM_000548.4(TSC2):c.2220+3A>C http://identifiers.org/clinvar/65179 ^@ NM_000548.4(TSC2):c.*102+43del http://identifiers.org/clinvar/65180 ^@ NM_000548.4(TSC2):c.226-1G>A http://identifiers.org/clinvar/65181 ^@ NM_000548.4(TSC2):c.1599+82_1599+84del http://identifiers.org/clinvar/65182 ^@ NM_000548.4(TSC2):c.4417A>C (p.Lys1473Gln) http://identifiers.org/clinvar/242660 ^@ NM_000548.3:c.4621_4634ins14 http://identifiers.org/clinvar/242659 ^@ NM_000548.4(TSC2):c.4621_4629delGACACCCAC (p.Asp1541_His1543del) http://identifiers.org/clinvar/65184 ^@ NM_000548.4(TSC2):c.1819G>T (p.Ala607Ser) http://identifiers.org/clinvar/65185 ^@ NM_000548.4(TSC2):c.2795G>A (p.Ser932Asn) http://identifiers.org/clinvar/65186 ^@ NM_000548.4(TSC2):c.5214dupC (p.Lys1739Glnfs) http://identifiers.org/clinvar/65187 ^@ NM_000548.4(TSC2):c.5160+23G>A http://identifiers.org/clinvar/65188 ^@ NM_000548.4(TSC2):c.599+4A>G http://identifiers.org/clinvar/65189 ^@ NM_000548.4(TSC2):c.2050delG (p.Val684Cysfs) http://identifiers.org/clinvar/65190 ^@ NM_000548.4(TSC2):c.1366G>A (p.Glu456Lys) http://identifiers.org/clinvar/65191 ^@ NM_000548.4(TSC2):c.5414dupA (p.Phe1806Valfs) http://identifiers.org/clinvar/65192 ^@ NM_000548.4(TSC2):c.1599+1G>T http://identifiers.org/clinvar/65193 ^@ NM_000548.4(TSC2):c.4298C>T (p.Ser1433Leu) http://identifiers.org/clinvar/65194 ^@ NM_000548.4(TSC2):c.3337dupG (p.Glu1113Glyfs) http://identifiers.org/clinvar/65195 ^@ NM_000548.4(TSC2):c.1362-4G>A http://identifiers.org/clinvar/65196 ^@ NM_000548.4(TSC2):c.1033C>T (p.Leu345Phe) http://identifiers.org/clinvar/65197 ^@ NM_000548.4(TSC2):c.1565A>C (p.His522Pro) http://identifiers.org/clinvar/65198 ^@ NM_000548.4(TSC2):c.4683C>T (p.Ile1561=) http://identifiers.org/clinvar/65199 ^@ NM_000548.4(TSC2):c.1610_1622delGCTCCCTCTCCCC (p.Arg537Hisfs) http://identifiers.org/clinvar/65200 ^@ NM_000548.3(TSC2):c.(1445_1599)del (p.Glu(1445_1599)Glyfs) http://identifiers.org/clinvar/65201 ^@ NM_000548.4(TSC2):c.1947-4_2030del http://identifiers.org/clinvar/65202 ^@ NM_000548.4(TSC2):c.3612delG (p.Asn1205Thrfs) http://identifiers.org/clinvar/65203 ^@ NM_000548.4(TSC2):c.4849+76G>A http://identifiers.org/clinvar/65204 ^@ NM_000548.4(TSC2):c.1698_1716+1del http://identifiers.org/clinvar/65205 ^@ NM_000548.4(TSC2):c.5068+2T>G http://identifiers.org/clinvar/65206 ^@ NM_000548.4(TSC2):c.4489C>T (p.Pro1497Ser) http://identifiers.org/clinvar/65207 ^@ NM_000548.4(TSC2):c.949_950insTA (p.Thr317Ilefs) http://identifiers.org/clinvar/65208 ^@ NM_000548.4(TSC2):c.*102+26G>A http://identifiers.org/clinvar/65209 ^@ NM_000548.3:c.3673_3674insNNNNN http://identifiers.org/clinvar/65210 ^@ NM_000548.4(TSC2):c.1840-3C>G http://identifiers.org/clinvar/65211 ^@ NM_000548.4(TSC2):c.5176dupC (p.His1726Profs) http://identifiers.org/clinvar/65212 ^@ NM_000548.4(TSC2):c.2950G>C (p.Glu984Gln) http://identifiers.org/clinvar/65213 ^@ NM_000548.4(TSC2):c.2546-11C>G http://identifiers.org/clinvar/65214 ^@ NM_000548.4(TSC2):c.239_249dupCACTCTGGAAG (p.Ala84Hisfs) http://identifiers.org/clinvar/65215 ^@ NM_000548.4(TSC2):c.4957T>C (p.Ser1653Pro) http://identifiers.org/clinvar/65216 ^@ NM_000548.4(TSC2):c.5155G>A (p.Ala1719Thr) http://identifiers.org/clinvar/65217 ^@ NM_000548.4(TSC2):c.1001T>C (p.Val334Ala) http://identifiers.org/clinvar/65218 ^@ NM_000548.3:c.*61insG http://identifiers.org/clinvar/65219 ^@ NM_000548.4(TSC2):c.4604A>C (p.Asp1535Ala) http://identifiers.org/clinvar/65220 ^@ NM_000548.4(TSC2):c.3712delG (p.Ala1238Leufs) http://identifiers.org/clinvar/65221 ^@ NM_000548.4(TSC2):c.3434C>T (p.Pro1145Leu) http://identifiers.org/clinvar/65222 ^@ NM_000548.4(TSC2):c.2197C>G (p.Leu733Val) http://identifiers.org/clinvar/65223 ^@ NM_000548.4(TSC2):c.292C>T (p.Arg98Trp) http://identifiers.org/clinvar/65224 ^@ NM_000548.4(TSC2):c.5127delC (p.Phe1710Serfs) http://identifiers.org/clinvar/65225 ^@ NM_000548.4(TSC2):c.4569+44C>T http://identifiers.org/clinvar/65226 ^@ NM_000548.4(TSC2):c.2753C>G (p.Ser918Cys) http://identifiers.org/clinvar/65227 ^@ NM_000548.4(TSC2):c.4920_4921ins17 http://identifiers.org/clinvar/65228 ^@ NM_000548.4(TSC2):c.710delC (p.Pro237Argfs) http://identifiers.org/clinvar/65229 ^@ NM_000548.4(TSC2):c.4498G>A (p.Val1500Met) http://identifiers.org/clinvar/65230 ^@ NM_000548.4(TSC2):c.3581G>A (p.Trp1194Ter) http://identifiers.org/clinvar/65231 ^@ NM_000548.4(TSC2):c.760G>A (p.Glu254Lys) http://identifiers.org/clinvar/65232 ^@ NM_000548.4(TSC2):c.3611-2A>T http://identifiers.org/clinvar/65233 ^@ NM_000548.3:c.3884-15G>A http://identifiers.org/clinvar/65234 ^@ NM_000548.4(TSC2):c.5160+2T>C http://identifiers.org/clinvar/65235 ^@ NM_000548.4(TSC2):c.2639+5G>A http://identifiers.org/clinvar/65236 ^@ NM_000548.4(TSC2):c.4928A>G (p.Asn1643Ser) http://identifiers.org/clinvar/65237 ^@ NM_000548.4(TSC2):c.774+1G>T http://identifiers.org/clinvar/65238 ^@ NM_000548.4(TSC2):c.1258-30G>T http://identifiers.org/clinvar/65239 ^@ NM_000548.4(TSC2):c.4730delG (p.Gly1577Alafs) http://identifiers.org/clinvar/65240 ^@ NM_000548.4(TSC2):c.4663-14C>T http://identifiers.org/clinvar/65241 ^@ NM_000548.4(TSC2):c.4352dupG (p.Ser1452Leufs) http://identifiers.org/clinvar/65242 ^@ NM_000548.4(TSC2):c.979_980dupAT (p.Met327Ilefs) http://identifiers.org/clinvar/65243 ^@ NM_000548.4(TSC2):c.4859A>G (p.His1620Arg) http://identifiers.org/clinvar/65244 ^@ NM_000548.4(TSC2):c.3611-10G>A http://identifiers.org/clinvar/65245 ^@ NM_000548.4(TSC2):c.3284+1G>C http://identifiers.org/clinvar/65246 ^@ NM_000548.4(TSC2):c.2127delT (p.Leu710Trpfs) http://identifiers.org/clinvar/65247 ^@ NM_000548.4(TSC2):c.2767_2769delTCTinsCC (p.Ser923Profs) http://identifiers.org/clinvar/65248 ^@ NM_000548.4(TSC2):c.1839+46G>A http://identifiers.org/clinvar/65249 ^@ NM_000548.4(TSC2):c.657delG (p.Gln220Argfs) http://identifiers.org/clinvar/65250 ^@ NM_000548.4(TSC2):c.2356-52_2357del http://identifiers.org/clinvar/65251 ^@ NM_000548.4(TSC2):c.1258-1G>A http://identifiers.org/clinvar/65252 ^@ NM_000548.4(TSC2):c.3312_3313delGA (p.Gln1104Hisfs) http://identifiers.org/clinvar/65253 ^@ NM_000548.4(TSC2):c.4850-109T>C http://identifiers.org/clinvar/65254 ^@ NM_000548.4(TSC2):c.4915_4918dupCGCC (p.His1640Profs) http://identifiers.org/clinvar/65255 ^@ NM_000548.4(TSC2):c.2968_2971dupAGGA (p.Ile991Lysfs) http://identifiers.org/clinvar/65256 ^@ NM_000548.4(TSC2):c.976-14G>A http://identifiers.org/clinvar/65257 ^@ NM_000548.4(TSC2):c.1298C>G (p.Ser433Cys) http://identifiers.org/clinvar/65258 ^@ NM_000548.4(TSC2):c.4273_4337del65 (p.Gly1425Phefs) http://identifiers.org/clinvar/65259 ^@ NM_000548.4(TSC2):c.2220+1G>A http://identifiers.org/clinvar/65260 ^@ NM_000548.4(TSC2):c.4324delG (p.Glu1442Argfs) http://identifiers.org/clinvar/65261 ^@ NM_000548.4(TSC2):c.4850-14C>G http://identifiers.org/clinvar/65262 ^@ NM_000548.4(TSC2):c.926delT (p.Leu309Profs) http://identifiers.org/clinvar/65263 ^@ NM_000548.4(TSC2):c.2861A>G (p.Lys954Arg) http://identifiers.org/clinvar/65264 ^@ NM_000548.4(TSC2):c.1019T>C (p.Leu340Pro) http://identifiers.org/clinvar/65265 ^@ NM_000548.4(TSC2):c.2639+42C>T http://identifiers.org/clinvar/65266 ^@ NM_000548.4(TSC2):c.3699dupC (p.Ala1234Argfs) http://identifiers.org/clinvar/65267 ^@ NM_000548.4(TSC2):c.4496dupT (p.Val1500Argfs) http://identifiers.org/clinvar/65268 ^@ NM_000548.4(TSC2):c.1862_1864delTGC (p.Leu621del) http://identifiers.org/clinvar/65269 ^@ NM_000548.4(TSC2):c.4913dupA (p.Arg1639Alafs) http://identifiers.org/clinvar/65270 ^@ NM_000548.4(TSC2):c.2073_2074dupCG (p.Val692Alafs) http://identifiers.org/clinvar/65271 ^@ NM_000548.4(TSC2):c.1080dupT (p.Leu361Serfs) http://identifiers.org/clinvar/65272 ^@ NM_000548.4(TSC2):c.1840G>T (p.Ala614Ser) http://identifiers.org/clinvar/65273 ^@ NM_000548.4(TSC2):c.4316delG (p.Gly1439Alafs) http://identifiers.org/clinvar/65274 ^@ NM_000548.4(TSC2):c.4090dupT (p.Ser1364Phefs) http://identifiers.org/clinvar/65275 ^@ NM_000548.4(TSC2):c.5154_5157dupCGCA (p.Asn1720Argfs) http://identifiers.org/clinvar/65276 ^@ NM_000548.4(TSC2):c.*102+25T>G http://identifiers.org/clinvar/65277 ^@ NM_000548.4(TSC2):c.2640-1G>A http://identifiers.org/clinvar/65278 ^@ NM_000548.4(TSC2):c.4662G>C (p.Gln1554His) http://identifiers.org/clinvar/65279 ^@ NM_000548.4(TSC2):c.1628dupC (p.Glu544Glyfs) http://identifiers.org/clinvar/65280 ^@ NM_000548.4(TSC2):c.5112dupT (p.Asp1705Terfs) http://identifiers.org/clinvar/65281 ^@ NM_000548.4(TSC2):c.1343T>C (p.Leu448Pro) http://identifiers.org/clinvar/65282 ^@ NM_000548.4(TSC2):c.2220+25G>C http://identifiers.org/clinvar/65283 ^@ NM_000548.4(TSC2):c.3197T>C (p.Leu1066Pro) http://identifiers.org/clinvar/65284 ^@ NM_000548.4(TSC2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/65285 ^@ NM_000548.4(TSC2):c.3989C>T (p.Thr1330Met) http://identifiers.org/clinvar/65286 ^@ NM_000548.4(TSC2):c.1508dupA (p.Val504Glyfs) http://identifiers.org/clinvar/65287 ^@ NM_000548.4(TSC2):c.3058dupC (p.Leu1020Profs) http://identifiers.org/clinvar/65288 ^@ NM_000548.4(TSC2):c.3284+45G>A http://identifiers.org/clinvar/65289 ^@ NM_000548.4(TSC2):c.5035G>A (p.Glu1679Lys) http://identifiers.org/clinvar/65290 ^@ NM_000548.4(TSC2):c.3935dupT (p.Glu1313Glyfs) http://identifiers.org/clinvar/65291 ^@ NM_000548.4(TSC2):c.5228G>T (p.Arg1743Leu) http://identifiers.org/clinvar/65292 ^@ NM_000548.4(TSC2):c.2721delTinsAG (p.Asp907Glufs) http://identifiers.org/clinvar/65293 ^@ NM_000548.4(TSC2):c.1151T>A (p.Val384Asp) http://identifiers.org/clinvar/65294 ^@ NM_000548.4(TSC2):c.1889_1893delGCCTGinsATGCA (p.Gly630_Leu631delinsAspAla) http://identifiers.org/clinvar/65295 ^@ NM_000548.4(TSC2):c.2545+95dup http://identifiers.org/clinvar/65296 ^@ NM_000548.4(TSC2):c.5249T>C (p.Leu1750Pro) http://identifiers.org/clinvar/65297 ^@ NM_000548.4(TSC2):c.5262C>T (p.Ile1754=) http://identifiers.org/clinvar/65298 ^@ NM_000548.4(TSC2):c.2231delC (p.Pro744Glnfs) http://identifiers.org/clinvar/65299 ^@ NM_000548.4(TSC2):c.3884-8C>T http://identifiers.org/clinvar/65300 ^@ NM_000548.4(TSC2):c.2743-9C>G http://identifiers.org/clinvar/65301 ^@ NM_000548.4(TSC2):c.4868C>T (p.Thr1623Ile) http://identifiers.org/clinvar/65302 ^@ NM_000548.4(TSC2):c.5363A>T (p.Tyr1788Phe) http://identifiers.org/clinvar/65303 ^@ NM_000548.4(TSC2):c.3036C>T (p.Asp1012=) http://identifiers.org/clinvar/65304 ^@ NM_000548.4(TSC2):c.4493G>C (p.Ser1498Thr) http://identifiers.org/clinvar/65305 ^@ NM_000548.4(TSC2):c.4604A>T (p.Asp1535Val) http://identifiers.org/clinvar/65306 ^@ NM_000548.4(TSC2):c.4736G>T (p.Gly1579Val) http://identifiers.org/clinvar/65307 ^@ NM_000548.4(TSC2):c.1973A>C (p.Lys658Thr) http://identifiers.org/clinvar/65308 ^@ NM_000548.4(TSC2):c.2368_2370delTAC (p.Tyr790del) http://identifiers.org/clinvar/65309 ^@ NM_000548.4(TSC2):c.3131G>A (p.Arg1044Lys) http://identifiers.org/clinvar/65310 ^@ NM_000548.4(TSC2):c.3599G>C (p.Arg1200Pro) http://identifiers.org/clinvar/65311 ^@ NM_000548.4(TSC2):c.1959_1960delAG (p.Gly654Leufs) http://identifiers.org/clinvar/65312 ^@ NM_000548.4(TSC2):c.5108dupT (p.Ser1704Valfs) http://identifiers.org/clinvar/65313 ^@ NM_000548.4(TSC2):c.26C>G (p.Ser9Ter) http://identifiers.org/clinvar/65314 ^@ NM_000548.4(TSC2):c.509_510insAT (p.Gly171Leufs) http://identifiers.org/clinvar/65315 ^@ NM_000548.4(TSC2):c.1708A>G (p.Ile570Val) http://identifiers.org/clinvar/65316 ^@ NM_000548.4(TSC2):c.3094_3095insTTCCATG (p.Arg1032Leufs) http://identifiers.org/clinvar/65317 ^@ NM_000548.4(TSC2):c.3132-16G>A http://identifiers.org/clinvar/65318 ^@ NM_000548.4(TSC2):c.4700G>T (p.Gly1567Val) http://identifiers.org/clinvar/65319 ^@ NM_000548.4(TSC2):c.3999delC (p.Tyr1333Terfs) http://identifiers.org/clinvar/65320 ^@ NM_000548.4(TSC2):c.4283delC (p.Ala1428Valfs) http://identifiers.org/clinvar/65321 ^@ NM_000548.4(TSC2):c.1425delC (p.Asn476Thrfs) http://identifiers.org/clinvar/65322 ^@ NM_000548.4(TSC2):c.4006-30_4006-29del http://identifiers.org/clinvar/65323 ^@ NM_000548.4(TSC2):c.5127dupC (p.Phe1710Leufs) http://identifiers.org/clinvar/242658 ^@ NM_000548.4(TSC2):c.4358_4359delCC (p.Pro1453Glnfs) http://identifiers.org/clinvar/242657 ^@ NM_000548.4(TSC2):c.4361_4372delGTGGCCTCCGGC (p.Ser1454_Pro1458delinsThr) http://identifiers.org/clinvar/65325 ^@ NM_000548.4(TSC2):c.297delC (p.His99Glnfs) http://identifiers.org/clinvar/65326 ^@ NM_000548.4(TSC2):c.1119+23G>A http://identifiers.org/clinvar/65327 ^@ NM_000548.4(TSC2):c.1258-32dup http://identifiers.org/clinvar/65328 ^@ NM_000548.4(TSC2):c.2113G>A (p.Val705Met) http://identifiers.org/clinvar/65329 ^@ NM_000548.4(TSC2):c.4436C>T (p.Ala1479Val) http://identifiers.org/clinvar/65330 ^@ NM_000548.4(TSC2):c.2716A>T (p.Lys906Ter) http://identifiers.org/clinvar/65331 ^@ NM_000548.4(TSC2):c.3413_3414insC (p.Val1139Serfs) http://identifiers.org/clinvar/65332 ^@ NM_000548.4(TSC2):c.4448G>C (p.Arg1483Thr) http://identifiers.org/clinvar/65333 ^@ NM_000548.4(TSC2):c.5224_5241del18 (p.Ala1742_Ile1747del) http://identifiers.org/clinvar/65334 ^@ NM_000548.4(TSC2):c.1789C>T (p.His597Tyr) http://identifiers.org/clinvar/65335 ^@ NM_000548.4(TSC2):c.1946+2T>C http://identifiers.org/clinvar/65336 ^@ NM_000548.4(TSC2):c.3285-31G>A http://identifiers.org/clinvar/65337 ^@ NM_000548.4(TSC2):c.656T>C (p.Leu219Pro) http://identifiers.org/clinvar/65338 ^@ NM_000548.4(TSC2):c.4280G>C (p.Ser1427Thr) http://identifiers.org/clinvar/65339 ^@ NM_000548.4(TSC2):c.3373dupC (p.Arg1125Profs) http://identifiers.org/clinvar/65340 ^@ NM_000548.4(TSC2):c.5412C>T (p.Thr1804=) http://identifiers.org/clinvar/65341 ^@ NM_000548.4(TSC2):c.909_910dupCT (p.Trp304Serfs) http://identifiers.org/clinvar/65342 ^@ NM_000548.4(TSC2):c.709_710dupCC (p.Leu238Argfs) http://identifiers.org/clinvar/65343 ^@ NM_000548.4(TSC2):c.4849+48C>T http://identifiers.org/clinvar/65344 ^@ NM_000548.4(TSC2):c.3083A>G (p.Asp1028Gly) http://identifiers.org/clinvar/65345 ^@ NM_000548.4(TSC2):c.724dupA (p.Thr242Asnfs) http://identifiers.org/clinvar/65346 ^@ NM_000548.4(TSC2):c.1443+1G>T http://identifiers.org/clinvar/242656 ^@ NM_000548.4(TSC2):c.976-17_976-1dup http://identifiers.org/clinvar/242655 ^@ NM_000548.4(TSC2):c.976-20T>A http://identifiers.org/clinvar/65348 ^@ NM_000548.4(TSC2):c.3952_3961delGAGGACGTTG (p.Glu1318Argfs) http://identifiers.org/clinvar/65349 ^@ NM_000548.4(TSC2):c.340G>A (p.Glu114Lys) http://identifiers.org/clinvar/65350 ^@ NM_000548.4(TSC2):c.1384C>T (p.Arg462Cys) http://identifiers.org/clinvar/65351 ^@ NM_000548.4(TSC2):c.2545+2T>C http://identifiers.org/clinvar/65352 ^@ NM_000548.4(TSC2):c.395_396delCC (p.Ser132Terfs) http://identifiers.org/clinvar/65353 ^@ NM_000548.4(TSC2):c.4142C>T (p.Pro1381Leu) http://identifiers.org/clinvar/65354 ^@ NM_000548.4(TSC2):c.3607A>C (p.Thr1203Pro) http://identifiers.org/clinvar/65355 ^@ NM_000548.4(TSC2):c.833A>C (p.His278Pro) http://identifiers.org/clinvar/65356 ^@ NM_000548.4(TSC2):c.2743-5_2743-1dupGCCAG http://identifiers.org/clinvar/65357 ^@ NM_000548.4(TSC2):c.5247dupG (p.Leu1750Alafs) http://identifiers.org/clinvar/65358 ^@ NM_000548.4(TSC2):c.4136C>T (p.Ser1379Leu) http://identifiers.org/clinvar/65359 ^@ NM_000548.4(TSC2):c.2988delC (p.Ser997Valfs) http://identifiers.org/clinvar/65360 ^@ NM_000548.4(TSC2):c.5164G>C (p.Ala1722Pro) http://identifiers.org/clinvar/65361 ^@ NM_000548.4(TSC2):c.4260_4261delAG (p.Gly1421Aspfs) http://identifiers.org/clinvar/65362 ^@ NM_000548.4(TSC2):c.1546delG (p.Ala516Glnfs) http://identifiers.org/clinvar/65363 ^@ NM_000548.4(TSC2):c.1099delC (p.Arg367Glyfs) http://identifiers.org/clinvar/65364 ^@ NM_000548.4(TSC2):c.5123T>C (p.Leu1708Pro) http://identifiers.org/clinvar/65365 ^@ NM_000548.4(TSC2):c.336+1_336+2dup http://identifiers.org/clinvar/65366 ^@ NM_000548.4(TSC2):c.2318T>G (p.Leu773Ter) http://identifiers.org/clinvar/65367 ^@ NM_000548.4(TSC2):c.4707C>G (p.Tyr1569Ter) http://identifiers.org/clinvar/65368 ^@ NM_000548.4(TSC2):c.4494-1_4494insC http://identifiers.org/clinvar/65369 ^@ NM_000548.4(TSC2):c.4850-2A>G http://identifiers.org/clinvar/65370 ^@ NM_000548.4(TSC2):c.5161-15T>C http://identifiers.org/clinvar/65371 ^@ NM_000548.4(TSC2):c.2183dupG (p.Cys728Trpfs) http://identifiers.org/clinvar/65372 ^@ NM_000548.4(TSC2):c.4849+2T>A http://identifiers.org/clinvar/65373 ^@ NM_000548.4(TSC2):c.1840-1G>C http://identifiers.org/clinvar/65374 ^@ NM_000548.4(TSC2):c.482-27C>T http://identifiers.org/clinvar/65375 ^@ NM_000548.4(TSC2):c.2381dupA (p.Leu796Profs) http://identifiers.org/clinvar/65376 ^@ NM_000548.4(TSC2):c.4665dupC (p.Asn1556Glnfs) http://identifiers.org/clinvar/65377 ^@ NM_000548.4(TSC2):c.3203C>T (p.Thr1068Ile) http://identifiers.org/clinvar/65378 ^@ NM_000548.4(TSC2):c.337-2A>G http://identifiers.org/clinvar/65379 ^@ NM_000548.4(TSC2):c.454C>G (p.His152Asp) http://identifiers.org/clinvar/65380 ^@ NM_000548.4(TSC2):c.655delC (p.Leu219Cysfs) http://identifiers.org/clinvar/65381 ^@ NM_000548.4(TSC2):c.2046delG (p.Ser683Profs) http://identifiers.org/clinvar/65382 ^@ NM_000548.4(TSC2):c.1821G>A (p.Ala607=) http://identifiers.org/clinvar/65383 ^@ NM_000548.4(TSC2):c.2009C>T (p.Pro670Leu) http://identifiers.org/clinvar/65385 ^@ NM_001077494.3(NFKB2):c.2557C>T (p.Arg853Ter) http://identifiers.org/clinvar/65386 ^@ NM_001288724.1(NFKB2):c.2564delA (p.Lys855Serfs) http://identifiers.org/clinvar/65387 ^@ NM_006044.3(HDAC6):c.*282A>T http://identifiers.org/clinvar/65388 ^@ NM_002351.4(SH2D1A):c.137+5G>C http://identifiers.org/clinvar/65389 ^@ NM_001492.5(GDF1):c.909dupC (p.Val304Argfs) http://identifiers.org/clinvar/65390 ^@ NM_199461.3(NANOS1):c.240_242delCTC (p.Ser83del) http://identifiers.org/clinvar/65391 ^@ NM_199461.3(NANOS1):c.517_519delGCC (p.Ala173del) http://identifiers.org/clinvar/242654 ^@ NM_199461.3(NANOS1):c.737G>A (p.Arg246His) http://identifiers.org/clinvar/242653 ^@ NM_199461.3(NANOS1):c.826_827delCGinsTA (p.Arg276Tyr) http://identifiers.org/clinvar/375729 ^@ NM_181755.2(HSD11B1):c.332-29T>G http://identifiers.org/clinvar/65397 ^@ NM_001070.4(TUBG1):c.1160T>C (p.Leu387Pro) http://identifiers.org/clinvar/65398 ^@ NM_001070.4(TUBG1):c.275A>G (p.Tyr92Cys) http://identifiers.org/clinvar/65399 ^@ NM_001070.4(TUBG1):c.991A>C (p.Thr331Pro) http://identifiers.org/clinvar/65400 ^@ NM_001098511.2(KIF2A):c.961C>G (p.His321Asp) http://identifiers.org/clinvar/65401 ^@ NM_001098511.2(KIF2A):c.950G>A (p.Ser317Asn) http://identifiers.org/clinvar/65402 ^@ NM_004522.2(KIF5C):c.710A>T (p.Glu237Val) http://identifiers.org/clinvar/65406 ^@ NM_004426.2(PHC1):c.2974C>T (p.Leu992Phe) http://identifiers.org/clinvar/65407 ^@ NM_005850.4(SF3B4):c.1006C>T (p.Arg336Ter) http://identifiers.org/clinvar/65408 ^@ NM_178170.2(NEK8):c.1795C>T (p.Arg599Ter) http://identifiers.org/clinvar/65410 ^@ NM_030582.3(COL18A1):c.4054_4055delCT (p.Leu1352Valfs) http://identifiers.org/clinvar/65411 ^@ NM_130445.2(COL18A1):c.2118dupC (p.Gly707Argfs) http://identifiers.org/clinvar/65412 ^@ NM_001283009.1(RTEL1):c.3730T>C (p.Cys1244Arg) http://identifiers.org/clinvar/65413 ^@ NM_016434.3(RTEL1):c.2097C>G (p.Ile699Met) http://identifiers.org/clinvar/65414 ^@ NM_016434.3(RTEL1):c.2233G>A (p.Val745Met) http://identifiers.org/clinvar/65415 ^@ NM_016434.3(RTEL1):c.2141+5G>A http://identifiers.org/clinvar/65416 ^@ NM_032957.4(RTEL1):c.1845G>T (p.Glu615Asp) http://identifiers.org/clinvar/65417 ^@ NM_032957.4(RTEL1):c.3028C>T (p.Arg1010Ter) http://identifiers.org/clinvar/65418 ^@ NM_032957.4(RTEL1):c.1933G>A (p.Ala645Thr) http://identifiers.org/clinvar/65419 ^@ NM_020376.3(PNPLA2):c.613dupC (p.Leu205Profs) http://identifiers.org/clinvar/65420 ^@ NM_020376.3(PNPLA2):c.543delC (p.Ile182Serfs) http://identifiers.org/clinvar/65421 ^@ NM_020376.3(PNPLA2):c.475_478dupCTCC (p.Gln160Profs) http://identifiers.org/clinvar/65422 ^@ NM_052867.2(NALCN):c.1924C>T (p.Gln642Ter) http://identifiers.org/clinvar/65423 ^@ NM_020699.3(GATAD2B):c.565_566delAG (p.Gln190Alafs) http://identifiers.org/clinvar/65424 ^@ NM_152683.3(PRIMPOL):c.265T>G (p.Tyr89Asp) http://identifiers.org/clinvar/65427 ^@ NM_001130683.3(GUCY1A3):c.488dupT (p.Leu163Phefs) http://identifiers.org/clinvar/65429 ^@ NM_001166284.1(CCT7):c.1313C>T (p.Ser438Leu) http://identifiers.org/clinvar/65449 ^@ NM_001141945.2(ACTA2):c.115C>T (p.Arg39Cys) http://identifiers.org/clinvar/65450 ^@ NM_001613.2(ACTA2):c.145A>G (p.Met49Val) http://identifiers.org/clinvar/65451 ^@ NM_031157.3(HNRNPA1):c.941A>T (p.Asp314Val) http://identifiers.org/clinvar/65452 ^@ NM_031157.3(HNRNPA1):c.940G>A (p.Asp314Asn) http://identifiers.org/clinvar/65453 ^@ NM_031157.3(HNRNPA1):c.956A>G (p.Asn319Ser) http://identifiers.org/clinvar/65454 ^@ NM_031243.2(HNRNPA2B1):c.905A>T (p.Asp302Val) http://identifiers.org/clinvar/65455 ^@ NM_005005.2(NDUFB9):c.191T>C (p.Leu64Pro) http://identifiers.org/clinvar/65460 ^@ NM_002337.3(LRPAP1):c.605delA (p.Asn202Thrfs) http://identifiers.org/clinvar/65461 ^@ NM_002337.3(LRPAP1):c.863_864delTC (p.Ile288Argfs) http://identifiers.org/clinvar/65462 ^@ NM_004390.4(CTSH):c.485_488delTGTC (p.Leu162Profs) http://identifiers.org/clinvar/65463 ^@ NM_004995.3(MMP14):c.50C>G (p.Thr17Arg) http://identifiers.org/clinvar/65464 ^@ NM_001135021.1(ELMOD3):c.794T>C (p.Leu265Ser) http://identifiers.org/clinvar/65469 ^@ NM_001382.3(DPAGT1):c.341C>G (p.Ala114Gly) http://identifiers.org/clinvar/65470 ^@ NM_001382.3(DPAGT1):c.85A>T (p.Ile29Phe) http://identifiers.org/clinvar/65471 ^@ NM_001382.3(DPAGT1):c.503T>C (p.Leu168Pro) http://identifiers.org/clinvar/65472 ^@ NM_001270974.2(HYDIN):c.3786-1G>T http://identifiers.org/clinvar/65473 ^@ NM_012106.3(ARL2BP):c.101-1G>C http://identifiers.org/clinvar/65474 ^@ NM_012106.3(ARL2BP):c.134T>G (p.Met45Arg) http://identifiers.org/clinvar/65476 ^@ NM_020117.10(LARS):c.1118A>G (p.Tyr373Cys) http://identifiers.org/clinvar/65477 ^@ NM_001098512.2(PRKG1):c.530G>A (p.Arg177Gln) http://identifiers.org/clinvar/65478 ^@ NM_001651.3(AQP5):c.113C>A (p.Ala38Glu) http://identifiers.org/clinvar/65479 ^@ NM_001651.3(AQP5):c.562C>T (p.Arg188Cys) http://identifiers.org/clinvar/65480 ^@ NM_001651.3(AQP5):c.134T>G (p.Ile45Ser) http://identifiers.org/clinvar/65481 ^@ NM_001651.3(AQP5):c.529A>T (p.Ile177Phe) http://identifiers.org/clinvar/65482 ^@ NM_001651.3(AQP5):c.367A>G (p.Asn123Asp) http://identifiers.org/clinvar/65483 ^@ NM_006941.3(SOX10):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/65487 ^@ NM_007129.3(ZIC2):c.936delG (p.Lys312Asnfs) http://identifiers.org/clinvar/65488 ^@ 1 bp del G 7 http://identifiers.org/clinvar/65491 ^@ NG_007493.1:g.64269_65649del1381 http://identifiers.org/clinvar/65492 ^@ NM_007129.3(ZIC2):c.1091_1092delAG (p.Gln364Leufs) http://identifiers.org/clinvar/65493 ^@ NM_005413.3(SIX3):c.219C>T (p.Pro73=) http://identifiers.org/clinvar/65494 ^@ NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) http://identifiers.org/clinvar/65496 ^@ NM_170695.3(TGIF1):c.371C>T (p.Ala124Val) http://identifiers.org/clinvar/65498 ^@ NM_001146051.1(HSDL1):c.-7464_-2089del http://identifiers.org/clinvar/65500 ^@ NM_005413.3(SIX3):c.576C>T (p.Arg192=) http://identifiers.org/clinvar/65501 ^@ NM_005413.3(SIX3):c.696_705delCCCCAGCAAG (p.Asn232Lysfs) http://identifiers.org/clinvar/65504 ^@ TGIF1:c.887C>T http://identifiers.org/clinvar/65505 ^@ NM_005413.3(SIX3):c.90G>T (p.Ala30=) http://identifiers.org/clinvar/65506 ^@ SIX3:c.942G>A http://identifiers.org/clinvar/65507 ^@ NM_170695.3(TGIF1):c.968T>G (p.Val323Gly) http://identifiers.org/clinvar/65508 ^@ m.10237T>C http://identifiers.org/clinvar/65509 ^@ m.11253T>C http://identifiers.org/clinvar/65510 ^@ m.12811T>C http://identifiers.org/clinvar/65511 ^@ m.13637A>G http://identifiers.org/clinvar/65512 ^@ m.14325T>C http://identifiers.org/clinvar/65513 ^@ m.14482C>G http://identifiers.org/clinvar/65514 ^@ m.14498T>C http://identifiers.org/clinvar/65515 ^@ m.14568C>T http://identifiers.org/clinvar/65516 ^@ m.14279G>A http://identifiers.org/clinvar/65517 ^@ m.14831G>A http://identifiers.org/clinvar/65518 ^@ m.3635G>A http://identifiers.org/clinvar/65519 ^@ m.3700G>A http://identifiers.org/clinvar/65520 ^@ m.4025C>T http://identifiers.org/clinvar/65525 ^@ GNPTAB:c.1895C>G http://identifiers.org/clinvar/65526 ^@ NM_000142.4(FGFR3):c.344A>T (p.Gln115Leu) http://identifiers.org/clinvar/65527 ^@ NP_000133.1:p.Gly65Arg http://identifiers.org/clinvar/65528 ^@ NG_011801.1:g.73667+?_86672del http://identifiers.org/clinvar/65529 ^@ NM_000081.3(LYST):c.10127A>G (p.Asn3376Ser) http://identifiers.org/clinvar/65530 ^@ NM_000081.3(LYST):c.10395delA (p.Gly3466Alafs) http://identifiers.org/clinvar/65533 ^@ NM_000081.3(LYST):c.1540C>T (p.Arg514Ter) http://identifiers.org/clinvar/65535 ^@ NM_000081.3(LYST):c.2413delG (p.Glu805Asnfs) http://identifiers.org/clinvar/65536 ^@ NM_000081.3(LYST):c.2454delA (p.Ala819Hisfs) http://identifiers.org/clinvar/65538 ^@ NM_000081.3(LYST):c.3073_3074delAA (p.Asn1025Glnfs) http://identifiers.org/clinvar/65539 ^@ NM_000081.3(LYST):c.3434dupA (p.His1145Glnfs) http://identifiers.org/clinvar/65540 ^@ NM_000081.3(LYST):c.4052C>G (p.Ser1351Ter) http://identifiers.org/clinvar/65541 ^@ NM_000081.3(LYST):c.4274delT (p.Leu1425Tyrfs) http://identifiers.org/clinvar/65542 ^@ NM_000081.3(LYST):c.4361C>A (p.Ala1454Asp) http://identifiers.org/clinvar/65543 ^@ NM_000081.3(LYST):c.5061T>A (p.Tyr1687Ter) http://identifiers.org/clinvar/65544 ^@ NM_000081.3(LYST):c.5317delA (p.Arg1773Aspfs) http://identifiers.org/clinvar/65545 ^@ NM_000081.3(LYST):c.6078C>A (p.Tyr2026Ter) http://identifiers.org/clinvar/65546 ^@ NM_000081.3(LYST):c.7060_7066delCTATTAG (p.Leu2354Metfs) http://identifiers.org/clinvar/65547 ^@ NM_000081.3(LYST):c.7555delT (p.Tyr2519Ilefs) http://identifiers.org/clinvar/65548 ^@ NM_000081.3(LYST):c.8428G>A (p.Glu2810Lys) http://identifiers.org/clinvar/65549 ^@ NM_000081.3(LYST):c.8583G>A (p.Trp2861Ter) http://identifiers.org/clinvar/65550 ^@ NM_000081.3(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077Phefs) http://identifiers.org/clinvar/65552 ^@ NM_000081.3(LYST):c.9893delT (p.Phe3298Serfs) http://identifiers.org/clinvar/65553 ^@ NM_000095.2(COMP):c.1156_1158delAAC (p.Asn386del) http://identifiers.org/clinvar/65554 ^@ NM_000095.2(COMP):c.1665C>A (p.Asn555Lys) http://identifiers.org/clinvar/65555 ^@ NM_000095.2(COMP):c.1813G>A (p.Asp605Asn) http://identifiers.org/clinvar/65556 ^@ NM_000095.2(COMP):c.2042C>G (p.Ser681Cys) http://identifiers.org/clinvar/65557 ^@ NM_000095.2(COMP):c.2153G>C (p.Arg718Pro) http://identifiers.org/clinvar/65558 ^@ NM_000112.3(SLC26A2):c.1020_1022delTGT (p.Val341del) http://identifiers.org/clinvar/65559 ^@ NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) http://identifiers.org/clinvar/65560 ^@ NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) http://identifiers.org/clinvar/65561 ^@ NM_000142.4(FGFR3):c.2419T>C (p.Ter807Arg) http://identifiers.org/clinvar/65562 ^@ NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu) http://identifiers.org/clinvar/65563 ^@ NM_000142.4(FGFR3):c.2421A>C (p.Ter807Cys) http://identifiers.org/clinvar/65564 ^@ NM_000142.4(FGFR3):c.2421A>G (p.Ter807Trp) http://identifiers.org/clinvar/65570 ^@ NM_000157.3(GBA):c.475C>T (p.Arg159Trp) http://identifiers.org/clinvar/65572 ^@ NM_000180.3(GUCY2D):c.3233_3236dupACCA (p.His1079Glnfs) http://identifiers.org/clinvar/65573 ^@ NM_000187.3(HGD):c.1111dupC (p.His371Profs) http://identifiers.org/clinvar/65574 ^@ NM_000187.3(HGD):c.140C>T (p.Ser47Leu) http://identifiers.org/clinvar/65577 ^@ NM_000187.3(HGD):c.342+1G>A http://identifiers.org/clinvar/65578 ^@ NM_000187.3(HGD):c.360T>G (p.Cys120Trp) http://identifiers.org/clinvar/65580 ^@ NM_000204.4(CFI):c.782G>A (p.Gly261Asp) http://identifiers.org/clinvar/65581 ^@ NM_000207.2(INS):c.*59A>G http://identifiers.org/clinvar/65582 ^@ NM_000207.2(INS):c.-218A>C http://identifiers.org/clinvar/65583 ^@ NM_000207.2:c.-331C>A http://identifiers.org/clinvar/65584 ^@ NM_000207.2:c.-331C>G http://identifiers.org/clinvar/65585 ^@ NM_000207.2(INS):c.-366_343del http://identifiers.org/clinvar/65586 ^@ NM_000207.2:c.-370-?186+?del http://identifiers.org/clinvar/65587 ^@ NM_000207.2(INS):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/65588 ^@ NM_000207.2(INS):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/65589 ^@ NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) http://identifiers.org/clinvar/65590 ^@ NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) http://identifiers.org/clinvar/65591 ^@ NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) http://identifiers.org/clinvar/65592 ^@ NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) http://identifiers.org/clinvar/65595 ^@ NM_000370.2:c.530-531AG>GTAAGT http://identifiers.org/clinvar/65596 ^@ NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) http://identifiers.org/clinvar/65597 ^@ NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) http://identifiers.org/clinvar/65598 ^@ NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) http://identifiers.org/clinvar/65600 ^@ NM_000375.2(UROS):c.139T>C (p.Ser47Pro) http://identifiers.org/clinvar/65601 ^@ NM_000375.2(UROS):c.311C>T (p.Ala104Val) http://identifiers.org/clinvar/65604 ^@ NM_000500.7(CYP21A2):c.1482C>T (p.Ser494=) http://identifiers.org/clinvar/65606 ^@ NM_000500.5:c.293-13A>G(659A>G) http://identifiers.org/clinvar/65608 ^@ NM_000500.7(CYP21A2):c.308G>A (p.Arg103Lys) http://identifiers.org/clinvar/65609 ^@ NM_000500.7(CYP21A2):c.552C>G (p.Asp184Glu) http://identifiers.org/clinvar/65610 ^@ NM_000500.7(CYP21A2):c.844G>C (p.Val282Leu) http://identifiers.org/clinvar/65611 ^@ NM_000500.7(CYP21A2):c.923dupT (p.Leu308Phefs) http://identifiers.org/clinvar/242652 ^@ NM_000500.5:c.701T>A http://identifiers.org/clinvar/65614 ^@ NM_000554.5(CRX):c.529delG (p.Ala177Leufs) http://identifiers.org/clinvar/65615 ^@ NM_000784.3(CYP27A1):c.1374C>A (p.Pro458=) http://identifiers.org/clinvar/65616 ^@ NM_000784.3(CYP27A1):c.243G>A (p.Leu81=) http://identifiers.org/clinvar/65617 ^@ NM_000784.3(CYP27A1):c.882G>A (p.Glu294=) http://identifiers.org/clinvar/65618 ^@ NM_000784.3(CYP27A1):c.888A>G (p.Gln296=) http://identifiers.org/clinvar/65619 ^@ NM_001006657.1(WDR35):c.1922T>G (p.Leu641Ter) http://identifiers.org/clinvar/65620 ^@ NM_001006657.1(WDR35):c.1592T>C (p.Leu531Pro) http://identifiers.org/clinvar/65621 ^@ NM_001006657.1(WDR35):c.25-2A>C http://identifiers.org/clinvar/65623 ^@ NM_001006657.1(WDR35):c.2912A>G (p.Tyr971Cys) http://identifiers.org/clinvar/65624 ^@ NM_001006657.1(WDR35):c.504T>A (p.Ser168Arg) http://identifiers.org/clinvar/65625 ^@ NM_001024630.3(RUNX2):c.1171C>T (p.Arg391Ter) http://identifiers.org/clinvar/65626 ^@ NM_001024630.3(RUNX2):c.90dupC (p.Ser31Leufs) http://identifiers.org/clinvar/65629 ^@ NM_001081563.1:c.*224_*226CTG(35-49) http://identifiers.org/clinvar/65630 ^@ NM_001081563.1:c.*224_226CTG(5-34) http://identifiers.org/clinvar/65631 ^@ NM_001081563.1:c.*224_226CTG(50-?) http://identifiers.org/clinvar/65634 ^@ NM_001287.5(CLCN7):c.1252G>A (p.Val418Met) http://identifiers.org/clinvar/65635 ^@ NM_001287.5(CLCN7):c.643G>A (p.Gly215Arg) http://identifiers.org/clinvar/65636 ^@ NM_001369.2(DNAH5):c.10815delT (p.Pro3606Hisfs) http://identifiers.org/clinvar/65637 ^@ NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) http://identifiers.org/clinvar/65639 ^@ NM_001876.3(CPT1A):c.1027T>G (p.Phe343Val) http://identifiers.org/clinvar/65640 ^@ NM_001876.3(CPT1A):c.1069C>T (p.Arg357Trp) http://identifiers.org/clinvar/65641 ^@ NM_001876.3(CPT1A):c.1339C>T (p.Arg447Ter) http://identifiers.org/clinvar/65642 ^@ NM_001876.3(CPT1A):c.1393G>T (p.Gly465Trp) http://identifiers.org/clinvar/65643 ^@ NM_001876.3(CPT1A):c.1425G>A (p.Trp475Ter) http://identifiers.org/clinvar/65644 ^@ NM_001876.3(CPT1A):c.1436C>T (p.Pro479Leu) http://identifiers.org/clinvar/65645 ^@ NM_001876.3(CPT1A):c.1451T>C (p.Leu484Pro) http://identifiers.org/clinvar/65646 ^@ NM_001876.3(CPT1A):c.1494T>A (p.Tyr498Ter) http://identifiers.org/clinvar/65647 ^@ NM_001876.3(CPT1A):c.1494T>G (p.Tyr498Ter) http://identifiers.org/clinvar/65648 ^@ NM_001876.3(CPT1A):c.1600delC (p.Leu534Terfs) http://identifiers.org/clinvar/65649 ^@ NM_001876.3(CPT1A):c.1737C>A (p.Tyr579Ter) http://identifiers.org/clinvar/65651 ^@ NM_001876.3(CPT1A):c.2027_2028+2delAAGT http://identifiers.org/clinvar/65652 ^@ NM_001876.3(CPT1A):c.2156G>A (p.Gly719Asp) http://identifiers.org/clinvar/65653 ^@ NM_001876.3(CPT1A):c.367C>T (p.Arg123Cys) http://identifiers.org/clinvar/65654 ^@ NM_001876.3(CPT1A):c.478C>T (p.Arg160Ter) http://identifiers.org/clinvar/65655 ^@ NM_001876.3(CPT1A):c.823G>A (p.Ala275Thr) http://identifiers.org/clinvar/65656 ^@ NM_001876.3(CPT1A):c.912C>G (p.Cys304Trp) http://identifiers.org/clinvar/65657 ^@ NM_001876.3(CPT1A):c.941C>T (p.Thr314Ile) http://identifiers.org/clinvar/65658 ^@ NM_001876.3:c.946C>G? http://identifiers.org/clinvar/65659 ^@ NM_001876.3(CPT1A):c.946C>G (p.Arg316Gly) http://identifiers.org/clinvar/65661 ^@ NM_001876.3(CPT1A):c.96T>G (p.Tyr32Ter) http://identifiers.org/clinvar/65662 ^@ NM_001876.3:c.986C>T http://identifiers.org/clinvar/65663 ^@ NM_001920.4(DCN):c.947delG (p.Gly316Aspfs) http://identifiers.org/clinvar/65664 ^@ NM_002381.4(MATN3):c.359C>T (p.Thr120Met) http://identifiers.org/clinvar/65665 ^@ NM_002693.2(POLG):c.1550G>T (p.Gly517Val) http://identifiers.org/clinvar/65666 ^@ NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) http://identifiers.org/clinvar/65667 ^@ NM_002973.3:c.496_498CAG(?31)(?31 CAG repeats) http://identifiers.org/clinvar/65668 ^@ NP_002964.3:p.Gln166(>=33) http://identifiers.org/clinvar/65670 ^@ NM_004304.4(ALK):c.3520T>G (p.Phe1174Val) http://identifiers.org/clinvar/65671 ^@ NM_004304.4(ALK):c.3733T>G (p.Phe1245Val) http://identifiers.org/clinvar/65674 ^@ NM_004456.4(EZH2):c.2044G>A (p.Ala682Thr) http://identifiers.org/clinvar/65675 ^@ NM_004456.4(EZH2):c.2233G>A (p.Glu745Lys) http://identifiers.org/clinvar/65676 ^@ NM_004595.4(SMS):c.174T>A (p.Phe58Leu) http://identifiers.org/clinvar/65677 ^@ NM_004595.4(SMS):c.200G>A (p.Gly67Glu) http://identifiers.org/clinvar/65679 ^@ NM_004595.4(SMS):c.443A>G (p.Gln148Arg) http://identifiers.org/clinvar/65680 ^@ NM_004595.4(SMS):c.449T>C (p.Ile150Thr) http://identifiers.org/clinvar/65681 ^@ NM_004595.4(SMS):c.983A>C (p.Tyr328Ser) http://identifiers.org/clinvar/65683 ^@ NM_005120.2(MED12):c.2873G>A (p.Gly958Glu) http://identifiers.org/clinvar/65684 ^@ NM_005211.3(CSF1R):c.1958G>A (p.Cys653Tyr) http://identifiers.org/clinvar/65685 ^@ NM_005211.3(CSF1R):c.2329C>T (p.Arg777Trp) http://identifiers.org/clinvar/65686 ^@ NM_005211.3(CSF1R):c.2483T>C (p.Phe828Ser) http://identifiers.org/clinvar/65687 ^@ NM_005259.2(MSTN):c.163G>A (p.Ala55Thr) http://identifiers.org/clinvar/65688 ^@ NM_005259.2(MSTN):c.458A>G (p.Lys153Arg) http://identifiers.org/clinvar/65691 ^@ NM_005378.4:c.64C>T http://identifiers.org/clinvar/65692 ^@ NM_005629.3(SLC6A8):c.1631C>T (p.Pro544Leu) http://identifiers.org/clinvar/65693 ^@ NM_005629.3(SLC6A8):c.1661C>T (p.Pro554Leu) http://identifiers.org/clinvar/65696 ^@ NM_005982.3(SIX1):c.317T>G (p.Val106Gly) http://identifiers.org/clinvar/65697 ^@ NM_005982.3(SIX1):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/65698 ^@ NM_005982.3(SIX1):c.50T>A (p.Val17Glu) http://identifiers.org/clinvar/65703 ^@ NM_012144.3(DNAI1):c.1490G>A (p.Gly497Asp) http://identifiers.org/clinvar/65704 ^@ NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del) http://identifiers.org/clinvar/65708 ^@ NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) http://identifiers.org/clinvar/65709 ^@ NM_014336.4(AIPL1):c.589G>C (p.Ala197Pro) http://identifiers.org/clinvar/65710 ^@ NM_014336.4(AIPL1):c.617T>A (p.Ile206Asn) http://identifiers.org/clinvar/65711 ^@ NM_014336.4(AIPL1):c.784G>A (p.Gly262Ser) http://identifiers.org/clinvar/65712 ^@ NM_014336.4(AIPL1):c.905G>T (p.Arg302Leu) http://identifiers.org/clinvar/65713 ^@ NM_014846.3(WASHC5):c.2087G>C (p.Gly696Ala) http://identifiers.org/clinvar/65721 ^@ NM_023036.4(DNAI2):c.1494+1G>C (p.Val450_Ser498del) http://identifiers.org/clinvar/65723 ^@ NM_024757.4(EHMT1):c.1044G>A (p.Ser348=) http://identifiers.org/clinvar/65724 ^@ NM_024757.4(EHMT1):c.1089T>C (p.Gly363=) http://identifiers.org/clinvar/65725 ^@ NM_024757.4(EHMT1):c.1368C>T (p.Leu456=) http://identifiers.org/clinvar/65726 ^@ NM_024757.4(EHMT1):c.1533_1536delAGAC (p.Asp512Alafs) http://identifiers.org/clinvar/65728 ^@ NM_024757.4(EHMT1):c.1810C>T (p.Gln604Ter) http://identifiers.org/clinvar/65729 ^@ NM_024757.4(EHMT1):c.1858C>T (p.Arg620Ter) http://identifiers.org/clinvar/65730 ^@ NM_024757.4(EHMT1):c.2028dupG (p.Pro677Alafs) http://identifiers.org/clinvar/65731 ^@ NM_024757.4(EHMT1):c.2193-1G>C http://identifiers.org/clinvar/65732 ^@ NM_024757.4(EHMT1):c.2863_2864delGT (p.Val955Argfs) http://identifiers.org/clinvar/65733 ^@ NM_024757.4(EHMT1):c.2868-1G>A http://identifiers.org/clinvar/65734 ^@ NM_024757.4(EHMT1):c.2877_2880delTTCT (p.Ser960Glyfs) http://identifiers.org/clinvar/65735 ^@ NM_024757.4(EHMT1):c.3180+1G>T http://identifiers.org/clinvar/65736 ^@ NM_024757.4(EHMT1):c.3229C>T (p.Gln1077Ter) http://identifiers.org/clinvar/65737 ^@ NM_024757.4(EHMT1):c.3589C>T (p.Arg1197Trp) http://identifiers.org/clinvar/65738 ^@ NM_024757.4(EHMT1):c.444T>C (p.Pro148=) http://identifiers.org/clinvar/65739 ^@ NM_033056.3(PCDH15):c.394dupG (p.Glu132Glyfs) http://identifiers.org/clinvar/65740 ^@ NM_052985.3(IFT122):c.1108delG (p.Glu370Serfs) http://identifiers.org/clinvar/65741 ^@ NM_052985.3(IFT122):c.1636G>A (p.Gly546Arg) http://identifiers.org/clinvar/65743 ^@ NM_080424.2(SP110):c.319_325dupGGTGCTT (p.Ser109Trpfs) http://identifiers.org/clinvar/65744 ^@ NM_080424.2(SP110):c.373delA (p.Thr125Leufs) http://identifiers.org/clinvar/65747 ^@ NM_080424.2(SP110):c.667+1dup http://identifiers.org/clinvar/65748 ^@ NM_080424.2(SP110):c.78_79delCAinsAT (p.Ile27Leu) http://identifiers.org/clinvar/65749 ^@ NM_080669.5(SLC46A1):c.1127G>A (p.Arg376Gln) http://identifiers.org/clinvar/65750 ^@ NM_080669.5(SLC46A1):c.194dupG (p.Cys66Leufs) http://identifiers.org/clinvar/65752 ^@ NM_080669.5(SLC46A1):c.23dupC (p.Glu9Glyfs) http://identifiers.org/clinvar/65753 ^@ NM_080669.5(SLC46A1):c.466G>T (p.Asp156Tyr) http://identifiers.org/clinvar/65754 ^@ NM_145861.2(EDARADD):c.402_407delAACGGT (p.Thr135_Val136del) http://identifiers.org/clinvar/65755 ^@ NM_130837.2(OPA1):c.740G>A (p.Arg247His) http://identifiers.org/clinvar/65756 ^@ NM_145239.2(PRRT2):c.510dupT (p.Leu171Serfs) http://identifiers.org/clinvar/65757 ^@ NM_145239.2(PRRT2):c.647C>G (p.Pro216Arg) http://identifiers.org/clinvar/65758 ^@ NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) http://identifiers.org/clinvar/65759 ^@ NM_152296.4(ATP1A3):c.2051C>T (p.Ser684Phe) http://identifiers.org/clinvar/65764 ^@ NM_170707.3(LMNA):c.644T>C (p.Leu215Pro) http://identifiers.org/clinvar/65770 ^@ NM_183050.3(BCKDHB):c.1114G>T (p.Glu372Ter) http://identifiers.org/clinvar/65771 ^@ NM_183050.3(BCKDHB):c.832G>A (p.Gly278Ser) http://identifiers.org/clinvar/65773 ^@ NM_194248.2(OTOF):c.1103_1104delGGinsC (p.Gly368Alafs) http://identifiers.org/clinvar/65774 ^@ NM_194248.2(OTOF):c.1180dupG (p.Glu394Glyfs) http://identifiers.org/clinvar/65775 ^@ NM_194248.2(OTOF):c.1236delC (p.Glu413Asnfs) http://identifiers.org/clinvar/65776 ^@ NM_194248.2(OTOF):c.1273C>T (p.Arg425Ter) http://identifiers.org/clinvar/65777 ^@ NM_194248.1:c.1552-1567del16 http://identifiers.org/clinvar/65778 ^@ NM_194248.2(OTOF):c.1601delC (p.Pro534Glnfs) http://identifiers.org/clinvar/65779 ^@ NM_194248.2(OTOF):c.1607G>A (p.Trp536Ter) http://identifiers.org/clinvar/65780 ^@ NM_194248.2(OTOF):c.1609delG (p.Val537Terfs) http://identifiers.org/clinvar/65781 ^@ NM_194248.2(OTOF):c.1718T>G (p.Leu573Arg) http://identifiers.org/clinvar/65782 ^@ NM_194248.2(OTOF):c.1740delC (p.Ser581Profs) http://identifiers.org/clinvar/65783 ^@ NM_194248.2(OTOF):c.1780G>A (p.Glu594Lys) http://identifiers.org/clinvar/65784 ^@ NM_194248.2(OTOF):c.1841G>A (p.Gly614Glu) http://identifiers.org/clinvar/65785 ^@ NM_194248.1:c.1912-2C>T http://identifiers.org/clinvar/65786 ^@ NM_194248.2(OTOF):c.1966delC (p.Arg656Glyfs) http://identifiers.org/clinvar/65787 ^@ NM_194248.2(OTOF):c.2239G>T (p.Glu747Ter) http://identifiers.org/clinvar/65788 ^@ NM_194248.1:c.2295_2297delG http://identifiers.org/clinvar/65789 ^@ NM_194248.2(OTOF):c.2316C>A (p.Cys772Ter) http://identifiers.org/clinvar/65790 ^@ NM_194248.2(OTOF):c.2649C>A (p.Cys883Ter) http://identifiers.org/clinvar/65791 ^@ NM_194248.2(OTOF):c.2684_2685delGG (p.Gly895Glufs) http://identifiers.org/clinvar/65792 ^@ NM_194248.2(OTOF):c.2732_2735dupAGCT (p.Tyr913Alafs) http://identifiers.org/clinvar/65793 ^@ NM_194248.2(OTOF):c.2891C>A (p.Ala964Glu) http://identifiers.org/clinvar/65794 ^@ NM_194248.2(OTOF):c.2905_2923del19insCTCCGAGCGCA (p.Ala969Leufs) http://identifiers.org/clinvar/65796 ^@ NM_194248.2(OTOF):c.3239G>C (p.Arg1080Pro) http://identifiers.org/clinvar/65797 ^@ NM_194248.2(OTOF):c.3269C>A (p.Ala1090Glu) http://identifiers.org/clinvar/65798 ^@ NM_194248.2(OTOF):c.3400C>T (p.Arg1134Ter) http://identifiers.org/clinvar/65799 ^@ NM_194248.2(OTOF):c.3413T>C (p.Leu1138Pro) http://identifiers.org/clinvar/65800 ^@ NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG http://identifiers.org/clinvar/65801 ^@ NM_194248.2(OTOF):c.4157C>T (p.Thr1386Ile) http://identifiers.org/clinvar/65802 ^@ NM_194248.2(OTOF):c.4227+1G>T http://identifiers.org/clinvar/65803 ^@ NM_194248.2(OTOF):c.4351G>T (p.Gly1451Ter) http://identifiers.org/clinvar/65804 ^@ NM_194248.2(OTOF):c.4483C>T (p.Arg1495Ter) http://identifiers.org/clinvar/65805 ^@ NM_194248.2(OTOF):c.4809C>A (p.Tyr1603Ter) http://identifiers.org/clinvar/65806 ^@ NM_194248.2(OTOF):c.4819C>T (p.Arg1607Trp) http://identifiers.org/clinvar/65807 ^@ NM_194248.2(OTOF):c.5011dupT (p.Trp1671Leufs) http://identifiers.org/clinvar/65808 ^@ NM_194248.2(OTOF):c.5197G>A (p.Glu1733Lys) http://identifiers.org/clinvar/65809 ^@ NM_194248.2(OTOF):c.5384T>G (p.Phe1795Cys) http://identifiers.org/clinvar/65810 ^@ NM_194248.2(OTOF):c.5410_5412delGAG (p.Glu1804del) http://identifiers.org/clinvar/65811 ^@ NM_194248.2(OTOF):c.5567G>A (p.Arg1856Gln) http://identifiers.org/clinvar/65812 ^@ NM_194248.2(OTOF):c.5800dupC (p.Leu1934Profs) http://identifiers.org/clinvar/65813 ^@ NM_194248.2(OTOF):c.5815C>T (p.Arg1939Trp) http://identifiers.org/clinvar/65814 ^@ NM_194248.2(OTOF):c.709C>T (p.Arg237Ter) http://identifiers.org/clinvar/65815 ^@ NM_194248.2(OTOF):c.765G>C (p.Gln255His) http://identifiers.org/clinvar/65816 ^@ NM_194248.1:c.766-2T>A http://identifiers.org/clinvar/65817 ^@ NM_000540.2(RYR1):c.5495G>C (p.Gly1832Ala) http://identifiers.org/clinvar/65820 ^@ NP_000531.2:p.Val2550Leu http://identifiers.org/clinvar/65823 ^@ NM_000142.4(FGFR3):c.791C>T (p.Thr264Met) http://identifiers.org/clinvar/65824 ^@ NM_000193.3(SHH):c.1005G>A (p.Val335=) http://identifiers.org/clinvar/65825 ^@ NM_000784.3(CYP27A1):c.1017G>C (p.Thr339=) http://identifiers.org/clinvar/65826 ^@ NM_000142.4(FGFR3):c.1024G>T (p.Gly342Cys) http://identifiers.org/clinvar/65827 ^@ NM_000784.3(CYP27A1):c.1061A>G (p.Asp354Gly) http://identifiers.org/clinvar/65828 ^@ NM_000784.3:c.10_11 ins10bp http://identifiers.org/clinvar/65829 ^@ NM_000142.4(FGFR3):c.1142T>A (p.Val381Glu) http://identifiers.org/clinvar/65830 ^@ NM_000784.3:c.1146_1151delins http://identifiers.org/clinvar/65831 ^@ NM_000784.3(CYP27A1):c.1151C>T (p.Pro384Leu) http://identifiers.org/clinvar/65832 ^@ NM_000784.3:c.1180-1181delCT http://identifiers.org/clinvar/65833 ^@ NM_000784.3(CYP27A1):c.1184+1G>A http://identifiers.org/clinvar/65834 ^@ NM_000784.3(CYP27A1):c.1184G>A (p.Arg395His) http://identifiers.org/clinvar/65835 ^@ NM_000784.3(CYP27A1):c.1185-1G>T http://identifiers.org/clinvar/65836 ^@ NM_000784.3(CYP27A1):c.1202C>G (p.Pro401Arg) http://identifiers.org/clinvar/65837 ^@ NM_000784.3(CYP27A1):c.1209C>G (p.Asn403Lys) http://identifiers.org/clinvar/65838 ^@ NM_000784.3(CYP27A1):c.1213C>T (p.Arg405Trp) http://identifiers.org/clinvar/65839 ^@ NM_000784.3(CYP27A1):c.1222G>T (p.Glu408Ter) http://identifiers.org/clinvar/65840 ^@ NM_000784.3(CYP27A1):c.1238T>A (p.Val413Asp) http://identifiers.org/clinvar/65841 ^@ NM_000784.3(CYP27A1):c.1263+5G>T http://identifiers.org/clinvar/65842 ^@ NM_000784.3:c.1263+81_1596+?del http://identifiers.org/clinvar/65844 ^@ NM_000784.3(CYP27A1):c.1264-1G>A http://identifiers.org/clinvar/65846 ^@ NM_000193.2:c.1308C>T http://identifiers.org/clinvar/65847 ^@ NM_000784.3:c.1323C>T http://identifiers.org/clinvar/65848 ^@ NM_000784.3:c.1330-1333delTTCC http://identifiers.org/clinvar/65849 ^@ NM_000193.3(SHH):c.1210_1224delGGGGACCGCGGGGGC (p.Asp405_Gly409del) http://identifiers.org/clinvar/65850 ^@ NM_000784.3(CYP27A1):c.1402C>T (p.Pro468Ser) http://identifiers.org/clinvar/65851 ^@ NM_000784.3(CYP27A1):c.1415G>C (p.Gly472Ala) http://identifiers.org/clinvar/65853 ^@ NM_000193.3(SHH):c.9_10insGCTG (p.Leu4Alafs) http://identifiers.org/clinvar/65854 ^@ NM_000193.3(SHH):c.38_45delTCTCCTCG (p.Val13Alafs) http://identifiers.org/clinvar/65855 ^@ NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) http://identifiers.org/clinvar/65856 ^@ NM_000784.3(CYP27A1):c.305delC (p.Pro102Leufs) http://identifiers.org/clinvar/65859 ^@ NM_001244008.1(KIF1A):c.2840delT (p.Leu947Argfs) http://identifiers.org/clinvar/65860 ^@ NM_000193.3(SHH):c.300G>C (p.Gln100His) http://identifiers.org/clinvar/65861 ^@ NM_000784.3(CYP27A1):c.355delC (p.Arg119Glyfs) http://identifiers.org/clinvar/65863 ^@ NM_000784.3(CYP27A1):c.366C= (p.Gly122=) http://identifiers.org/clinvar/65864 ^@ NM_000784.3(CYP27A1):c.369_375delGTACCCA (p.Pro125Glyfs) http://identifiers.org/clinvar/65865 ^@ NM_000784.3(CYP27A1):c.379C>T (p.Arg127Trp) http://identifiers.org/clinvar/65866 ^@ NM_000784.3(CYP27A1):c.380G>A (p.Arg127Gln) http://identifiers.org/clinvar/65867 ^@ NM_000784.3(CYP27A1):c.409C>T (p.Arg137Trp) http://identifiers.org/clinvar/65868 ^@ NM_000784.3(CYP27A1):c.433G>A (p.Gly145Arg) http://identifiers.org/clinvar/65869 ^@ NM_000784.3(CYP27A1):c.435G>T (p.Gly145=) http://identifiers.org/clinvar/65870 ^@ NM_000784.3(CYP27A1):c.438G>A (p.Pro146=) http://identifiers.org/clinvar/65871 ^@ NM_000784.3(CYP27A1):c.446+1G>A http://identifiers.org/clinvar/65872 ^@ NM_000193.3(SHH):c.474C>G (p.Tyr158Ter) http://identifiers.org/clinvar/65873 ^@ NM_000784.3(CYP27A1):c.475C>T (p.Gln159Ter) http://identifiers.org/clinvar/65874 ^@ NM_000784.3:c.525-526delG http://identifiers.org/clinvar/65875 ^@ NM_001244008.1(KIF1A):c.5271dupC (p.Ser1758Glnfs) http://identifiers.org/clinvar/65876 ^@ NM_000193.3(SHH):c.562G>C (p.Glu188Gln) http://identifiers.org/clinvar/65877 ^@ NM_000193.3(SHH):c.570G>A (p.Ser190=) http://identifiers.org/clinvar/65878 ^@ NM_000784.3(CYP27A1):c.583G>T (p.Glu195Ter) http://identifiers.org/clinvar/65879 ^@ NM_000193.3(SHH):c.585G>A (p.Ser195=) http://identifiers.org/clinvar/65880 ^@ NM_000142.4(FGFR3):c.597C>T (p.His199=) http://identifiers.org/clinvar/65881 ^@ NM_000784.3:c.599C>T http://identifiers.org/clinvar/65882 ^@ NM_000784.3(CYP27A1):c.5dupC (p.Ala3Cysfs) http://identifiers.org/clinvar/65883 ^@ NM_000193.3(SHH):c.625C>T (p.Gln209Ter) http://identifiers.org/clinvar/65884 ^@ NM_000193.3(SHH):c.630C>T (p.Gly210=) http://identifiers.org/clinvar/65885 ^@ NM_000784.3(CYP27A1):c.646G>C (p.Ala216Pro) http://identifiers.org/clinvar/65886 ^@ NM_000784.3(CYP27A1):c.647-1G>T http://identifiers.org/clinvar/65887 ^@ NM_000193.3(SHH):c.664G>A (p.Asp222Asn) http://identifiers.org/clinvar/65888 ^@ c.667_684del(664_681del) http://identifiers.org/clinvar/65891 ^@ NM_000784.3(CYP27A1):c.691C>T (p.Arg231Ter) http://identifiers.org/clinvar/65892 ^@ NM_000193.3(SHH):c.708C>A (p.Ser236Arg) http://identifiers.org/clinvar/65893 ^@ c.725G>A http://identifiers.org/clinvar/65894 ^@ NM_000784.3(CYP27A1):c.73delG (p.Ala25Profs) http://identifiers.org/clinvar/65895 ^@ NM_000784.3(CYP27A1):c.745C>T (p.Gln249Ter) http://identifiers.org/clinvar/65896 ^@ NM_000784.3(CYP27A1):c.752C>A (p.Ser251Ter) http://identifiers.org/clinvar/65897 ^@ NM_152778.2(MFSD8):c.754+2T>A http://identifiers.org/clinvar/65898 ^@ NM_000784.3(CYP27A1):c.776A>G (p.Lys259Arg) http://identifiers.org/clinvar/65899 ^@ NM_000784.3(CYP27A1):c.779G>A (p.Trp260Ter) http://identifiers.org/clinvar/65900 ^@ NM_000142.4:c.783A>C http://identifiers.org/clinvar/65901 ^@ NM_000142.4(FGFR3):c.801G>T (p.Leu267=) http://identifiers.org/clinvar/65902 ^@ NM_000784.3(CYP27A1):c.808C>T (p.Arg270Ter) http://identifiers.org/clinvar/65903 ^@ NM_000784.3(CYP27A1):c.819delT (p.Asp273Glufs) http://identifiers.org/clinvar/65904 ^@ NM_000193.3(SHH):c.825G>A (p.Ala275=) http://identifiers.org/clinvar/65907 ^@ NM_000784.3(CYP27A1):c.850A>T (p.Lys284Ter) http://identifiers.org/clinvar/65908 ^@ NM_000784.3(CYP27A1):c.852G>A (p.Lys284=) http://identifiers.org/clinvar/65909 ^@ c.859G>C http://identifiers.org/clinvar/65910 ^@ NM_000784.3(CYP27A1):c.863delA (p.Glu288Glyfs) http://identifiers.org/clinvar/65911 ^@ NM_000193.3(SHH):c.876G>A (p.Gly292=) http://identifiers.org/clinvar/65912 ^@ NM_000193.3(SHH):c.885C>T (p.Ser295=) http://identifiers.org/clinvar/65915 ^@ NM_000142.4(FGFR3):c.970C>G (p.Leu324Val) http://identifiers.org/clinvar/65916 ^@ NM_000142.4(FGFR3):c.983A>T (p.Asn328Ile) http://identifiers.org/clinvar/65918 ^@ c.[708G>C]+[784C>T] http://identifiers.org/clinvar/65919 ^@ c.[c.38dupA]+[1571G>A] http://identifiers.org/clinvar/65921 ^@ m.3376G>A http://identifiers.org/clinvar/65922 ^@ NP_000531.2:p.4894Q http://identifiers.org/clinvar/65923 ^@ NM_000540.2(RYR1):c.4729G>A (p.Ala1577Thr) http://identifiers.org/clinvar/65924 ^@ NM_000540.2(RYR1):c.12986C>A (p.Ala4329Asp) http://identifiers.org/clinvar/65925 ^@ NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val) http://identifiers.org/clinvar/65926 ^@ NM_000540.2(RYR1):c.14717C>T (p.Ala4906Val) http://identifiers.org/clinvar/65927 ^@ NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) http://identifiers.org/clinvar/65929 ^@ NM_000784.3(CYP27A1):c.410G>A (p.Arg137Gln) http://identifiers.org/clinvar/65930 ^@ NM_017950.3(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) http://identifiers.org/clinvar/65932 ^@ NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) http://identifiers.org/clinvar/65933 ^@ NM_000540.2(RYR1):c.7635G>C (p.Glu2545Asp) http://identifiers.org/clinvar/65934 ^@ NM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys) http://identifiers.org/clinvar/65935 ^@ NM_000540.2(RYR1):c.1534G>A (p.Glu512Lys) http://identifiers.org/clinvar/65936 ^@ NP_000531.2:p.F4808P http://identifiers.org/clinvar/65937 ^@ NP_000531.2:p.F4860del http://identifiers.org/clinvar/65938 ^@ NP_000531.2:p.F4906del http://identifiers.org/clinvar/65939 ^@ NM_000540.2(RYR1):c.14762T>C (p.Phe4921Ser) http://identifiers.org/clinvar/65940 ^@ NM_000540.2(RYR1):c.644G>A (p.Gly215Glu) http://identifiers.org/clinvar/65941 ^@ NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp) http://identifiers.org/clinvar/65942 ^@ NP_000531.2:p.G4638N http://identifiers.org/clinvar/65943 ^@ NM_000540.2(RYR1):c.13912G>A (p.Gly4638Ser) http://identifiers.org/clinvar/65944 ^@ NP_000531.2:p.G4890R http://identifiers.org/clinvar/65945 ^@ NM_000540.2(RYR1):c.14671G>C (p.Gly4891Arg) http://identifiers.org/clinvar/65946 ^@ NP_000531.2:p.G4893R http://identifiers.org/clinvar/65947 ^@ NM_000540.2(RYR1):c.14690G>T (p.Gly4897Val) http://identifiers.org/clinvar/65948 ^@ NM_000540.2(RYR1):c.14696G>A (p.Gly4899Glu) http://identifiers.org/clinvar/65949 ^@ NP_000531.2:p.G4899R http://identifiers.org/clinvar/65950 ^@ NM_181426.1(CCDC39):c.2190delA (p.Glu731Asnfs) http://identifiers.org/clinvar/65951 ^@ NM_000540.2(RYR1):c.13952A>C (p.His4651Pro) http://identifiers.org/clinvar/65952 ^@ NM_000540.2(RYR1):c.14659C>T (p.His4887Tyr) http://identifiers.org/clinvar/65953 ^@ NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr) http://identifiers.org/clinvar/65955 ^@ NM_000540.2(RYR1):c.14814C>G (p.Ile4938Met) http://identifiers.org/clinvar/65956 ^@ NM_000540.2(RYR1):c.10100A>G (p.Lys3367Arg) http://identifiers.org/clinvar/65957 ^@ NM_000540.2(RYR1):c.14170A>C (p.Lys4724Gln) http://identifiers.org/clinvar/65958 ^@ NM_000540.2(RYR1):c.10817T>C (p.Leu3606Pro) http://identifiers.org/clinvar/65959 ^@ NM_000540.2(RYR1):c.13703T>C (p.Leu4568Pro) http://identifiers.org/clinvar/65960 ^@ NP_000531.2:p.L4647del2 http://identifiers.org/clinvar/65961 ^@ NM_000540.2(RYR1):c.13949T>C (p.Leu4650Pro) http://identifiers.org/clinvar/65962 ^@ NM_000540.2(RYR1):c.14378T>C (p.Leu4793Pro) http://identifiers.org/clinvar/65963 ^@ NP_000531.2:p.L4796C http://identifiers.org/clinvar/65964 ^@ NM_000540.2(RYR1):c.14440C>T (p.Leu4814Phe) http://identifiers.org/clinvar/65966 ^@ NP_000531.2:p.M2434K http://identifiers.org/clinvar/65968 ^@ NM_000540.2(RYR1):c.6847A>C (p.Asn2283His) http://identifiers.org/clinvar/65969 ^@ NM_000540.2(RYR1):c.14572A>G (p.Asn4858Asp) http://identifiers.org/clinvar/65970 ^@ NP_000531.2:p.N4939Q http://identifiers.org/clinvar/65972 ^@ NP_000531.2:p.Q160G http://identifiers.org/clinvar/65973 ^@ NP_000531.2:p.Q474H http://identifiers.org/clinvar/65974 ^@ NP_000531.2:p.Q512K http://identifiers.org/clinvar/65975 ^@ NP_000531.2:p.R146C http://identifiers.org/clinvar/65978 ^@ NP_000531.2:p.R2434H http://identifiers.org/clinvar/65979 ^@ NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) http://identifiers.org/clinvar/65980 ^@ NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) http://identifiers.org/clinvar/65981 ^@ NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) http://identifiers.org/clinvar/65982 ^@ NM_000540.2(RYR1):c.8816G>A (p.Arg2939Lys) http://identifiers.org/clinvar/65984 ^@ NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) http://identifiers.org/clinvar/65985 ^@ NM_000540.2(RYR1):c.14473C>T (p.Arg4825Cys) http://identifiers.org/clinvar/65986 ^@ NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) http://identifiers.org/clinvar/65987 ^@ NM_000540.2(RYR1):c.14678G>C (p.Arg4893Pro) http://identifiers.org/clinvar/65988 ^@ NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) http://identifiers.org/clinvar/65989 ^@ NM_000540.2(RYR1):c.14677C>T (p.Arg4893Trp) http://identifiers.org/clinvar/65990 ^@ NM_000540.2(RYR1):c.14740A>G (p.Arg4914Gly) http://identifiers.org/clinvar/65991 ^@ NM_000540.2(RYR1):c.14741G>C (p.Arg4914Thr) http://identifiers.org/clinvar/65992 ^@ NM_000540.2(RYR1):c.1280C>T (p.Ser427Leu) http://identifiers.org/clinvar/65993 ^@ NM_000540.2(RYR1):c.212C>A (p.Ser71Tyr) http://identifiers.org/clinvar/65994 ^@ NM_181426.1(CCDC39):c.2357_2359delGTAinsT (p.Ser786Ilefs) http://identifiers.org/clinvar/65995 ^@ NM_000540.2(RYR1):c.13910C>T (p.Thr4637Ile) http://identifiers.org/clinvar/65996 ^@ NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) http://identifiers.org/clinvar/65997 ^@ NM_000540.2(RYR1):c.14759C>A (p.Thr4920Asn) http://identifiers.org/clinvar/65998 ^@ NM_181426.1(CCDC39):c.1072delA (p.Thr358Glnfs) http://identifiers.org/clinvar/65999 ^@ NP_000775.1:p.Trp133* http://identifiers.org/clinvar/66000 ^@ NP_000531.2:p.V4849R http://identifiers.org/clinvar/66001 ^@ NM_000540.2(RYR1):c.14779_14784delGTCATC (p.Val4927_Ile4928del) http://identifiers.org/clinvar/66002 ^@ NM_000540.2(RYR1):c.13891T>A (p.Tyr4631Asn) http://identifiers.org/clinvar/66004 ^@ NM_000540.2(RYR1):c.14591A>G (p.Tyr4864Cys) http://identifiers.org/clinvar/66010 ^@ NM_032551.4(KISS1R):c.165delG (p.Gly56Alafs) http://identifiers.org/clinvar/66011 ^@ NM_001151.3(SLC25A4):c.111+1G>A http://identifiers.org/clinvar/66012 ^@ NM_001723.5(DST):c.3370C>T (p.Gln1124Ter) http://identifiers.org/clinvar/66013 ^@ NM_001723.5(DST):c.3745A>T (p.Arg1249Ter) http://identifiers.org/clinvar/66014 ^@ NM_000204.4(CFI):c.355G>A (p.Gly119Arg) http://identifiers.org/clinvar/66015 ^@ NM_006073.3(TRDN):c.53_56delACAG (p.Asp18Alafs) http://identifiers.org/clinvar/66016 ^@ NM_006073.3(TRDN):c.613C>T (p.Gln205Ter) http://identifiers.org/clinvar/66017 ^@ NM_006073.3(TRDN):c.176C>G (p.Thr59Arg) http://identifiers.org/clinvar/66019 ^@ NM_001916.4(CYC1):c.288G>T (p.Trp96Cys) http://identifiers.org/clinvar/66020 ^@ NM_001916.4(CYC1):c.643C>T (p.Leu215Phe) http://identifiers.org/clinvar/66021 ^@ NM_015896.3(ZMYND10):c.47T>G (p.Val16Gly) http://identifiers.org/clinvar/66022 ^@ NM_015896.3(ZMYND10):c.300delC (p.Phe101Serfs) http://identifiers.org/clinvar/66023 ^@ NM_015896.3(ZMYND10):c.486dupA (p.Ser163Ilefs) http://identifiers.org/clinvar/66024 ^@ NM_015896.3(ZMYND10):c.967C>T (p.Gln323Ter) http://identifiers.org/clinvar/66025 ^@ NM_015896.3(ZMYND10):c.593_594delTG (p.Val198Glyfs) http://identifiers.org/clinvar/66026 ^@ NM_015896.3(ZMYND10):c.797T>C (p.Leu266Pro) http://identifiers.org/clinvar/66027 ^@ LRRC6, 1-BP DEL, 630G http://identifiers.org/clinvar/66028 ^@ NM_012472.5(LRRC6):c.562C>T (p.Gln188Ter) http://identifiers.org/clinvar/66029 ^@ NM_138409.3(MRAP2):c.70G>T (p.Glu24Ter) http://identifiers.org/clinvar/66034 ^@ NM_003850.2(SUCLA2):c.751G>A (p.Asp251Asn) http://identifiers.org/clinvar/66035 ^@ NM_018127.6(ELAC2):c.1559C>T (p.Thr520Ile) http://identifiers.org/clinvar/66036 ^@ NM_018127.6(ELAC2):c.751A>T (p.Arg251Ter) http://identifiers.org/clinvar/66037 ^@ NM_018127.6(ELAC2):c.460T>C (p.Phe154Leu) http://identifiers.org/clinvar/66038 ^@ NM_018127.6(ELAC2):c.1267C>T (p.Leu423Phe) http://identifiers.org/clinvar/66039 ^@ NM_199355.3(ADAMTS18):c.1731C>G (p.Cys577Trp) http://identifiers.org/clinvar/66040 ^@ NM_199355.3(ADAMTS18):c.2065G>T (p.Glu689Ter) http://identifiers.org/clinvar/66041 ^@ NM_199355.3(ADAMTS18):c.605T>C (p.Leu202Pro) http://identifiers.org/clinvar/66042 ^@ NM_199355.3(ADAMTS18):c.97C>T (p.Gln33Ter) http://identifiers.org/clinvar/66043 ^@ TM4SF20, 4-KB DEL http://identifiers.org/clinvar/66044 ^@ NC_000010.11:g.27981131_27986391del5261 http://identifiers.org/clinvar/66045 ^@ NM_018076.4(ARMC4):c.2780T>G (p.Leu927Trp) http://identifiers.org/clinvar/66046 ^@ NM_018076.4(ARMC4):c.2712delC (p.Ile905Leufs) http://identifiers.org/clinvar/66047 ^@ NM_018076.4(ARMC4):c.2675C>A (p.Ser892Ter) http://identifiers.org/clinvar/66051 ^@ NM_001101.3(ACTB):c.349G>A (p.Glu117Lys) http://identifiers.org/clinvar/66052 ^@ NM_002508.2(NID1):c.1162C>T (p.Gln388Ter) http://identifiers.org/clinvar/66053 ^@ NM_002293.3(LAMC1):c.2237C>T (p.Thr746Met) http://identifiers.org/clinvar/66054 ^@ NM_002336.2(LRP6):c.1298A>G (p.Asn433Ser) http://identifiers.org/clinvar/66055 ^@ NM_002336.2(LRP6):c.1418G>A (p.Arg473Gln) http://identifiers.org/clinvar/66056 ^@ NM_002336.2(LRP6):c.1079G>A (p.Arg360His) http://identifiers.org/clinvar/375728 ^@ NM_003611.2(OFD1):c.936-550_936-537delACACTTGGGCTCAA http://identifiers.org/clinvar/66059 ^@ NM_003868.2(FGF16):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/66060 ^@ NM_003868.2(FGF16):c.470C>A (p.Ser157Ter) http://identifiers.org/clinvar/66061 ^@ NM_004980.4(KCND3):c.680_682delTCT (p.Phe227del) http://identifiers.org/clinvar/66062 ^@ NM_004980.4(KCND3):c.1054A>C (p.Thr352Pro) http://identifiers.org/clinvar/66063 ^@ NM_004980.4(KCND3):c.1119G>A (p.Met373Ile) http://identifiers.org/clinvar/66064 ^@ NM_004980.4(KCND3):c.1169G>A (p.Ser390Asn) http://identifiers.org/clinvar/66065 ^@ NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=) http://identifiers.org/clinvar/66066 ^@ NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln) http://identifiers.org/clinvar/66067 ^@ NM_006397.2(RNASEH2A):c.69G>A (p.Val23=) http://identifiers.org/clinvar/66068 ^@ NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) http://identifiers.org/clinvar/66069 ^@ NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) http://identifiers.org/clinvar/66072 ^@ NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp) http://identifiers.org/clinvar/66073 ^@ NM_001128840.2(CACNA1D):c.2250C>G (p.Ile750Met) http://identifiers.org/clinvar/66074 ^@ NM_020989.3(CRYGC):c.470G>A (p.Trp157Ter) http://identifiers.org/clinvar/66075 ^@ NM_020989.3(CRYGC):c.471G>A (p.Trp157Ter) http://identifiers.org/clinvar/66076 ^@ NM_020989.3(CRYGC):c.385G>T (p.Gly129Cys) http://identifiers.org/clinvar/66077 ^@ NM_001961.3(EEF2):c.1787C>A (p.Pro596His) http://identifiers.org/clinvar/66078 ^@ NM_023110.2(FGFR1):c.2174G>A (p.Cys725Tyr) http://identifiers.org/clinvar/66079 ^@ NM_023110.2(FGFR1):c.494T>C (p.Leu165Ser) http://identifiers.org/clinvar/66080 ^@ NM_023110.2(FGFR1):c.1867G>T (p.Asp623Tyr) http://identifiers.org/clinvar/66081 ^@ NM_000257.3(MYH7):c.847T>G (p.Tyr283Asp) http://identifiers.org/clinvar/66082 ^@ NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys) http://identifiers.org/clinvar/66083 ^@ NM_013251.3(TAC3):c.61delG (p.Ala21Leufs) http://identifiers.org/clinvar/66084 ^@ NM_001059.2(TACR3):c.824G>A (p.Trp275Ter) http://identifiers.org/clinvar/66085 ^@ NM_001059.2(TACR3):c.766T>C (p.Tyr256His) http://identifiers.org/clinvar/66086 ^@ NM_001257235.2(ALG13):c.8A>G (p.Asn3Ser) http://identifiers.org/clinvar/66087 ^@ SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER http://identifiers.org/clinvar/66088 ^@ NM_001015879.1(AURKC):c.379-2A>G http://identifiers.org/clinvar/66089 ^@ NM_006785.3(MALT1):c.266G>T (p.Ser89Ile) http://identifiers.org/clinvar/66090 ^@ NM_012160.4(FBXL4):c.1555C>T (p.Gln519Ter) http://identifiers.org/clinvar/66091 ^@ NM_012160.4(FBXL4):c.1303C>T (p.Arg435Ter) http://identifiers.org/clinvar/66092 ^@ NM_012160.4(FBXL4):c.1703G>C (p.Gly568Ala) http://identifiers.org/clinvar/66093 ^@ NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/66094 ^@ NM_012160.4(FBXL4):c.1694A>G (p.Asp565Gly) http://identifiers.org/clinvar/66095 ^@ NM_177438.2(DICER1):c.3907_3908delCT (p.Leu1303Valfs) http://identifiers.org/clinvar/66096 ^@ NM_177438.2(DICER1):c.3611_3616delACTACAinsT (p.Tyr1204Leufs) http://identifiers.org/clinvar/66097 ^@ ABCA12, ARG287TER http://identifiers.org/clinvar/66098 ^@ NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg) http://identifiers.org/clinvar/66099 ^@ NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg) http://identifiers.org/clinvar/66101 ^@ NM_000492.3:c.1679+1.6kbA>G http://identifiers.org/clinvar/66102 ^@ NM_000492.3(CFTR):c.2453delT (p.Leu818Trpfs) http://identifiers.org/clinvar/66104 ^@ NM_000492.3(CFTR):c.3964-78_4242+577del http://identifiers.org/clinvar/66105 ^@ NG_016465.4:g.37530_58609del http://identifiers.org/clinvar/66109 ^@ NM_000404.3(GLB1):c.1061T>G (p.Ile354Ser) http://identifiers.org/clinvar/66110 ^@ NM_000404.3(GLB1):c.1150A>T (p.Thr384Ser) http://identifiers.org/clinvar/66112 ^@ NM_020988.2(GNAO1):c.836T>A (p.Ile279Asn) http://identifiers.org/clinvar/66113 ^@ NM_020988.2(GNAO1):c.521A>G (p.Asp174Gly) http://identifiers.org/clinvar/66114 ^@ NM_020988.2(GNAO1):c.572_592del21 (p.Thr191_Phe197del) http://identifiers.org/clinvar/66115 ^@ NM_020988.2(GNAO1):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/66116 ^@ NM_000223.3(KRT12):c.*360A>C http://identifiers.org/clinvar/66117 ^@ NM_000223.3(KRT12):c.1276A>G (p.Ile426Val) http://identifiers.org/clinvar/66118 ^@ NM_000223.3(KRT12):c.1277T>G (p.Ile426Ser) http://identifiers.org/clinvar/66119 ^@ NM_000223.3(KRT12):c.1286A>G (p.Tyr429Cys) http://identifiers.org/clinvar/66120 ^@ NM_000223.3(KRT12):c.1289G>C (p.Arg430Pro) http://identifiers.org/clinvar/66121 ^@ NM_000223.3(KRT12):c.1298T>G (p.Leu433Arg) http://identifiers.org/clinvar/66122 ^@ NM_000223.3(KRT12):c.385A>G (p.Met129Val) http://identifiers.org/clinvar/66123 ^@ NM_000223.3(KRT12):c.389A>C (p.Gln130Pro) http://identifiers.org/clinvar/66124 ^@ NM_000223.3(KRT12):c.399T>G (p.Asn133Lys) http://identifiers.org/clinvar/66125 ^@ NM_000223.3(KRT12):c.405A>C (p.Arg135Ser) http://identifiers.org/clinvar/66126 ^@ NM_000223.3(KRT12):c.409G>C (p.Ala137Pro) http://identifiers.org/clinvar/66127 ^@ NM_000223.3(KRT12):c.427G>T (p.Val143Leu) http://identifiers.org/clinvar/66128 ^@ NM_000223.3(KRT12):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/66129 ^@ NM_000223.3(KRT12):c.55C>T (p.Arg19Trp) http://identifiers.org/clinvar/66130 ^@ NM_000224.2(KRT18):c.-15C>T http://identifiers.org/clinvar/66131 ^@ NM_000224.2(KRT18):c.1018G>A (p.Gly340Arg) http://identifiers.org/clinvar/66132 ^@ NM_000224.2(KRT18):c.1232G>A (p.Arg411His) http://identifiers.org/clinvar/66133 ^@ NM_000224.2(KRT18):c.193_216del24 (p.Thr65_Ala72del) http://identifiers.org/clinvar/66134 ^@ NM_000224.2(KRT18):c.307A>G (p.Thr103Ala) http://identifiers.org/clinvar/66135 ^@ NM_000224.2(KRT18):c.418-4C>G http://identifiers.org/clinvar/66136 ^@ NM_000224.2(KRT18):c.448A>G (p.Ile150Val) http://identifiers.org/clinvar/66137 ^@ NM_000224.2(KRT18):c.500+38G>A http://identifiers.org/clinvar/66138 ^@ NM_000224.2(KRT18):c.689G>C (p.Ser230Thr) http://identifiers.org/clinvar/66139 ^@ NM_000224.2(KRT18):c.782G>A (p.Arg261Gln) http://identifiers.org/clinvar/66140 ^@ NM_000224.2(KRT18):c.827A>G (p.Glu276Gly) http://identifiers.org/clinvar/66141 ^@ NM_000224.2(KRT18):c.854A>G (p.Gln285Arg) http://identifiers.org/clinvar/66142 ^@ NM_000224.2(KRT18):c.884C>T (p.Thr295Met) http://identifiers.org/clinvar/66143 ^@ NM_000224.2(KRT18):c.890C>T (p.Thr297Ile) http://identifiers.org/clinvar/66144 ^@ NM_000224.2(KRT18):c.993C>T (p.Tyr331=) http://identifiers.org/clinvar/66145 ^@ NM_000226.3(KRT9):c.1216T>C (p.Cys406Arg) http://identifiers.org/clinvar/66146 ^@ NM_000226.3(KRT9):c.1360T>C (p.Tyr454His) http://identifiers.org/clinvar/66147 ^@ NM_000226.3(KRT9):c.1363_1365dupCAC (p.His455_Asn456insHis) http://identifiers.org/clinvar/66148 ^@ NM_000226.3(KRT9):c.1372C>T (p.Leu458Phe) http://identifiers.org/clinvar/66149 ^@ NM_000226.3(KRT9):c.216C>T (p.Ser72=) http://identifiers.org/clinvar/66150 ^@ NM_000226.3(KRT9):c.426A>C (p.Gly142=) http://identifiers.org/clinvar/66151 ^@ NM_000226.3(KRT9):c.429A>C (p.Gly143=) http://identifiers.org/clinvar/66152 ^@ NM_000226.3(KRT9):c.470T>A (p.Met157Lys) http://identifiers.org/clinvar/66153 ^@ NM_000226.3(KRT9):c.470T>G (p.Met157Arg) http://identifiers.org/clinvar/66154 ^@ NM_000226.3(KRT9):c.481A>C (p.Asn161His) http://identifiers.org/clinvar/66155 ^@ NM_000226.3(KRT9):c.484T>C (p.Ser162Pro) http://identifiers.org/clinvar/66156 ^@ NM_000226.3(KRT9):c.488G>C (p.Arg163Pro) http://identifiers.org/clinvar/66157 ^@ NM_000226.3(KRT9):c.500_500delAinsGGCT (p.Tyr167delinsTrpLeu) http://identifiers.org/clinvar/66158 ^@ NM_000226.3(KRT9):c.508A>T (p.Lys170Ter) http://identifiers.org/clinvar/66159 ^@ NM_000421.3(KRT10):c.1155+5G>A http://identifiers.org/clinvar/66160 ^@ NM_000421.3(KRT10):c.1281_1282delCCinsAA (p.Cys427Ter) http://identifiers.org/clinvar/66161 ^@ NM_000421.3(KRT10):c.1314_1315insC (p.Lys439Glnfs) http://identifiers.org/clinvar/66162 ^@ NM_000421.3(KRT10):c.1333G>A (p.Glu445Lys) http://identifiers.org/clinvar/66163 ^@ NM_000421.3(KRT10):c.1337T>C (p.Ile446Thr) http://identifiers.org/clinvar/66164 ^@ NM_000421.3(KRT10):c.1340A>C (p.Gln447Pro) http://identifiers.org/clinvar/66165 ^@ NM_000421.3(KRT10):c.1346A>G (p.Tyr449Cys) http://identifiers.org/clinvar/66166 ^@ NM_000421.3(KRT10):c.1355T>C (p.Leu452Pro) http://identifiers.org/clinvar/66167 ^@ NM_000421.3(KRT10):c.1358T>C (p.Leu453Pro) http://identifiers.org/clinvar/66168 ^@ NM_000421.3(KRT10):c.1450_1451insC (p.Gly484Alafs) http://identifiers.org/clinvar/66169 ^@ NM_000421.3(KRT10):c.1546_1551delGGAAGCinsT (p.Gly516Phefs) http://identifiers.org/clinvar/66171 ^@ NM_000421.3(KRT10):c.376G>A (p.Gly126Ser) http://identifiers.org/clinvar/66172 ^@ NM_000421.3(KRT10):c.457C>G (p.Leu153Val) http://identifiers.org/clinvar/66173 ^@ NM_000421.3(KRT10):c.465_466delCCinsAA (p.Asp155_Arg156delinsGluSer) http://identifiers.org/clinvar/66174 ^@ NM_000421.3(KRT10):c.466C>A (p.Arg156Ser) http://identifiers.org/clinvar/66175 ^@ NM_000421.3(KRT10):c.467G>C (p.Arg156Pro) http://identifiers.org/clinvar/66176 ^@ NM_000421.3(KRT10):c.467G>T (p.Arg156Leu) http://identifiers.org/clinvar/66177 ^@ NM_000421.3(KRT10):c.472G>C (p.Ala158Pro) http://identifiers.org/clinvar/66178 ^@ NM_000421.3(KRT10):c.479A>C (p.Tyr160Ser) http://identifiers.org/clinvar/66179 ^@ NM_000421.3(KRT10):c.481_486delTTGGAC (p.Leu161_Asp162del) http://identifiers.org/clinvar/66180 ^@ NM_000422.2(KRT17):c.1112T>C (p.Leu371Pro) http://identifiers.org/clinvar/66181 ^@ NM_000422.2(KRT17):c.1163T>C (p.Leu388Pro) http://identifiers.org/clinvar/66182 ^@ NM_000422.2(KRT17):c.263T>A (p.Met88Lys) http://identifiers.org/clinvar/66183 ^@ NM_000422.2(KRT17):c.274_297del24 (p.Asn92_Leu99del) http://identifiers.org/clinvar/66185 ^@ NM_000422.2(KRT17):c.287_298delCCTCCTACCTGG (p.Ala96_Leu99del) http://identifiers.org/clinvar/66186 ^@ NM_000422.2(KRT17):c.295_303delCTGGACAAG (p.Leu99_Lys101del) http://identifiers.org/clinvar/66187 ^@ NM_000422.2(KRT17):c.309T>C (p.Arg103=) http://identifiers.org/clinvar/66188 ^@ NM_000422.2(KRT17):c.325A>G (p.Asn109Asp) http://identifiers.org/clinvar/66189 ^@ NM_000423.2(KRT2):c.1427A>T (p.Glu476Val) http://identifiers.org/clinvar/66190 ^@ NM_000423.2(KRT2):c.1448T>A (p.Leu483Gln) http://identifiers.org/clinvar/66191 ^@ NM_000423.2(KRT2):c.1451T>C (p.Leu484Pro) http://identifiers.org/clinvar/66192 ^@ NM_000423.2(KRT2):c.1462G>A (p.Glu488Lys) http://identifiers.org/clinvar/66193 ^@ NM_000423.2(KRT2):c.532G>A (p.Glu178Lys) http://identifiers.org/clinvar/66194 ^@ NM_000423.2(KRT2):c.542A>T (p.Gln181Leu) http://identifiers.org/clinvar/66195 ^@ NM_000423.2(KRT2):c.545T>A (p.Ile182Asn) http://identifiers.org/clinvar/66196 ^@ NM_000423.2(KRT2):c.607A>G (p.Asn203Asp) http://identifiers.org/clinvar/66197 ^@ NM_000424.3(KRT5):c.1054C>A (p.Arg352Ser) http://identifiers.org/clinvar/66198 ^@ NM_000424.3(KRT5):c.1065A>C (p.Thr355=) http://identifiers.org/clinvar/66199 ^@ NM_000424.3(KRT5):c.10C>T (p.Gln4Ter) http://identifiers.org/clinvar/66200 ^@ NM_000424.3(KRT5):c.1159T>A (p.Ser387Thr) http://identifiers.org/clinvar/66201 ^@ NM_000424.3(KRT5):c.1210A>G (p.Lys404Glu) http://identifiers.org/clinvar/66202 ^@ NM_000424.3(KRT5):c.1282G>A (p.Ala428Thr) http://identifiers.org/clinvar/66203 ^@ NM_000424.3(KRT5):c.1283C>T (p.Ala428Val) http://identifiers.org/clinvar/66204 ^@ NM_000424.3(KRT5):c.1285_1299delAGGAACAAGCTGGCC (p.Arg429_Ala433del) http://identifiers.org/clinvar/66205 ^@ NM_000424.3(KRT5):c.1313C>A (p.Ala438Asp) http://identifiers.org/clinvar/66206 ^@ NM_000424.3(KRT5):c.1329G>C (p.Lys443Asn) http://identifiers.org/clinvar/66207 ^@ NM_000424.3(KRT5):c.1362_1365delGGAGinsAGCTGGTA (p.Glu455Alafs) http://identifiers.org/clinvar/66208 ^@ NM_000424.3(KRT5):c.1398G>C (p.Glu466Asp) http://identifiers.org/clinvar/66209 ^@ NM_000424.3(KRT5):c.1399A>C (p.Ile467Leu) http://identifiers.org/clinvar/66210 ^@ NM_000424.3(KRT5):c.1400T>C (p.Ile467Thr) http://identifiers.org/clinvar/66211 ^@ NM_000424.3(KRT5):c.1401C>G (p.Ile467Met) http://identifiers.org/clinvar/66212 ^@ NM_000424.3(KRT5):c.1405A>C (p.Thr469Pro) http://identifiers.org/clinvar/66213 ^@ NM_000424.3(KRT5):c.1411C>T (p.Arg471Cys) http://identifiers.org/clinvar/66214 ^@ NM_000424.3(KRT5):c.1423G>A (p.Glu475Lys) http://identifiers.org/clinvar/66215 ^@ NM_000424.3(KRT5):c.1427G>A (p.Gly476Asp) http://identifiers.org/clinvar/66216 ^@ NM_000424.3(KRT5):c.1427G>C (p.Gly476Ala) http://identifiers.org/clinvar/66217 ^@ NM_000424.3(KRT5):c.1430A>G (p.Glu477Gly) http://identifiers.org/clinvar/66218 ^@ NM_000424.3(KRT5):c.1432G>A (p.Glu478Lys) http://identifiers.org/clinvar/66219 ^@ NM_000424.3(KRT5):c.1437delC (p.Cys479Terfs) http://identifiers.org/clinvar/66220 ^@ NM_000424.3(KRT5):c.1438A>G (p.Arg480Gly) http://identifiers.org/clinvar/66221 ^@ NM_000424.3(KRT5):c.1474+4A>G http://identifiers.org/clinvar/66222 ^@ NM_000424.3(KRT5):c.1550G>A (p.Gly517Asp) http://identifiers.org/clinvar/66223 ^@ NM_000424.3(KRT5):c.1582A>G (p.Ser528Gly) http://identifiers.org/clinvar/66224 ^@ NM_000424.3(KRT5):c.1627G>A (p.Gly543Ser) http://identifiers.org/clinvar/66225 ^@ NM_000424.3(KRT5):c.1635delG (p.Leu546Serfs) http://identifiers.org/clinvar/66226 ^@ NM_000424.3(KRT5):c.1636C>A (p.Leu546Ile) http://identifiers.org/clinvar/66227 ^@ NM_000424.3(KRT5):c.1692C>A (p.Gly564=) http://identifiers.org/clinvar/66228 ^@ NM_000424.3(KRT5):c.1730T>A (p.Phe577Tyr) http://identifiers.org/clinvar/66229 ^@ NM_000424.3(KRT5):c.1755G>A (p.Arg585=) http://identifiers.org/clinvar/66230 ^@ NM_000424.3(KRT5):c.237T>A (p.Ser79Arg) http://identifiers.org/clinvar/66231 ^@ NM_000424.3(KRT5):c.240T>A (p.Gly80=) http://identifiers.org/clinvar/66232 ^@ NM_000424.3(KRT5):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/66233 ^@ NM_000424.3(KRT5):c.382G>C (p.Gly128Arg) http://identifiers.org/clinvar/66234 ^@ NM_000424.3(KRT5):c.413G>A (p.Gly138Glu) http://identifiers.org/clinvar/66235 ^@ NM_000424.3(KRT5):c.418dupA (p.Ile140Asnfs) http://identifiers.org/clinvar/66236 ^@ NM_000424.3(KRT5):c.427G>T (p.Val143Phe) http://identifiers.org/clinvar/66237 ^@ NM_000424.3(KRT5):c.428T>A (p.Val143Asp) http://identifiers.org/clinvar/66238 ^@ NM_000424.3(KRT5):c.428T>C (p.Val143Ala) http://identifiers.org/clinvar/66239 ^@ NM_000424.3(KRT5):c.442_443delAG (p.Leu149Profs) http://identifiers.org/clinvar/66240 ^@ NM_000424.3(KRT5):c.446T>C (p.Leu149Pro) http://identifiers.org/clinvar/66241 ^@ NM_000424.3(KRT5):c.449T>C (p.Leu150Pro) http://identifiers.org/clinvar/66242 ^@ NM_000424.3(KRT5):c.451A>C (p.Thr151Pro) http://identifiers.org/clinvar/66243 ^@ NM_000424.3(KRT5):c.455C>T (p.Pro152Leu) http://identifiers.org/clinvar/66244 ^@ NM_000424.3(KRT5):c.473A>T (p.Asp158Val) http://identifiers.org/clinvar/66245 ^@ NM_000424.3(KRT5):c.489G>T (p.Arg163Ser) http://identifiers.org/clinvar/66246 ^@ NM_000424.3(KRT5):c.495G>T (p.Arg165Ser) http://identifiers.org/clinvar/66247 ^@ NM_000424.3(KRT5):c.499G>A (p.Glu167Lys) http://identifiers.org/clinvar/66248 ^@ NM_000424.3(KRT5):c.502G>A (p.Glu168Lys) http://identifiers.org/clinvar/66249 ^@ NM_000424.3(KRT5):c.506G>C (p.Arg169Pro) http://identifiers.org/clinvar/66250 ^@ NM_000424.3(KRT5):c.509A>G (p.Glu170Gly) http://identifiers.org/clinvar/66251 ^@ NM_000424.3(KRT5):c.513G>A (p.Gln171=) http://identifiers.org/clinvar/66252 ^@ NM_000424.3(KRT5):c.514A>G (p.Ile172Val) http://identifiers.org/clinvar/66253 ^@ NM_000424.3(KRT5):c.527A>G (p.Asn176Ser) http://identifiers.org/clinvar/66254 ^@ NM_000424.3(KRT5):c.530A>G (p.Asn177Ser) http://identifiers.org/clinvar/66255 ^@ NM_000424.3(KRT5):c.531_533delTAA (p.Asn177del) http://identifiers.org/clinvar/66256 ^@ NM_000424.3(KRT5):c.536T>C (p.Phe179Ser) http://identifiers.org/clinvar/66257 ^@ NM_000424.3(KRT5):c.538G>C (p.Ala180Pro) http://identifiers.org/clinvar/66258 ^@ NM_000424.3(KRT5):c.539C>A (p.Ala180Asp) http://identifiers.org/clinvar/66259 ^@ NM_000424.3(KRT5):c.547A>G (p.Ile183Val) http://identifiers.org/clinvar/66260 ^@ NM_000424.3(KRT5):c.547A>T (p.Ile183Phe) http://identifiers.org/clinvar/66261 ^@ NM_000424.3(KRT5):c.547_549delATC (p.Ile183del) http://identifiers.org/clinvar/66262 ^@ NM_000424.3(KRT5):c.548T>C (p.Ile183Thr) http://identifiers.org/clinvar/66263 ^@ NM_000424.3(KRT5):c.549C>G (p.Ile183Met) http://identifiers.org/clinvar/66264 ^@ NM_000424.3(KRT5):c.555+9C>T http://identifiers.org/clinvar/66265 ^@ NM_000424.3(KRT5):c.556-1G>C http://identifiers.org/clinvar/66266 ^@ NM_000424.3(KRT5):c.556-1G>T http://identifiers.org/clinvar/66267 ^@ NM_000424.3(KRT5):c.556G>A (p.Val186Met) http://identifiers.org/clinvar/66268 ^@ NM_000424.3(KRT5):c.557T>A (p.Val186Glu) http://identifiers.org/clinvar/66269 ^@ NM_000424.3(KRT5):c.560G>C (p.Arg187Pro) http://identifiers.org/clinvar/66270 ^@ NM_000424.3(KRT5):c.568G>A (p.Glu190Lys) http://identifiers.org/clinvar/66271 ^@ NM_000424.3(KRT5):c.570G>C (p.Glu190Asp) http://identifiers.org/clinvar/66272 ^@ NM_000424.3(KRT5):c.572A>C (p.Gln191Pro) http://identifiers.org/clinvar/66273 ^@ NM_000424.3(KRT5):c.579C>A (p.Asn193Lys) http://identifiers.org/clinvar/66274 ^@ NM_000424.3(KRT5):c.579C>T (p.Asn193=) http://identifiers.org/clinvar/66275 ^@ NM_000424.3(KRT5):c.591C>A (p.Asp197Glu) http://identifiers.org/clinvar/66276 ^@ NM_000424.3(KRT5):c.593C>G (p.Thr198Ser) http://identifiers.org/clinvar/66277 ^@ NM_000424.3(KRT5):c.594C>A (p.Thr198=) http://identifiers.org/clinvar/66278 ^@ NM_000424.3(KRT5):c.594C>T (p.Thr198=) http://identifiers.org/clinvar/66279 ^@ NM_000424.3(KRT5):c.596A>C (p.Lys199Thr) http://identifiers.org/clinvar/66280 ^@ NM_000424.3(KRT5):c.596A>G (p.Lys199Arg) http://identifiers.org/clinvar/66281 ^@ NM_000424.3(KRT5):c.596A>T (p.Lys199Met) http://identifiers.org/clinvar/66282 ^@ NM_000424.3(KRT5):c.630T>C (p.Thr210=) http://identifiers.org/clinvar/66283 ^@ NM_000424.3(KRT5):c.732G>A (p.Leu244=) http://identifiers.org/clinvar/66284 ^@ NM_000424.3(KRT5):c.794G>C (p.Arg265Pro) http://identifiers.org/clinvar/66285 ^@ NM_000424.3(KRT5):c.932T>G (p.Leu311Arg) http://identifiers.org/clinvar/66286 ^@ NM_000424.3(KRT5):c.968T>C (p.Val323Ala) http://identifiers.org/clinvar/66287 ^@ NM_000424.3(KRT5):c.971T>A (p.Val324Asp) http://identifiers.org/clinvar/66288 ^@ NM_000424.3(KRT5):c.971T>C (p.Val324Ala) http://identifiers.org/clinvar/66289 ^@ NM_000424.3(KRT5):c.974T>C (p.Leu325Pro) http://identifiers.org/clinvar/66290 ^@ NM_000424.3(KRT5):c.980T>A (p.Met327Lys) http://identifiers.org/clinvar/66291 ^@ NM_000424.3(KRT5):c.982G>C (p.Asp328His) http://identifiers.org/clinvar/66292 ^@ NM_000424.3(KRT5):c.983A>G (p.Asp328Gly) http://identifiers.org/clinvar/66293 ^@ NM_000424.3(KRT5):c.983A>T (p.Asp328Val) http://identifiers.org/clinvar/66294 ^@ NM_000424.3(KRT5):c.984C>A (p.Asp328Glu) http://identifiers.org/clinvar/66295 ^@ NM_000424.3(KRT5):c.986A>G (p.Asn329Ser) http://identifiers.org/clinvar/66296 ^@ NM_000424.3(KRT5):c.991C>A (p.Arg331Ser) http://identifiers.org/clinvar/66297 ^@ NM_000424.3(KRT5):c.991C>G (p.Arg331Gly) http://identifiers.org/clinvar/66298 ^@ NM_000424.3(KRT5):c.991C>T (p.Arg331Cys) http://identifiers.org/clinvar/66299 ^@ NM_000424.3(KRT5):c.992G>A (p.Arg331His) http://identifiers.org/clinvar/66300 ^@ NM_000526.4(KRT14):c.1117_1158dup42 (p.Gln386_Leu387insIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGln) http://identifiers.org/clinvar/66301 ^@ NM_000526.4(KRT14):c.1123_1125delGAG (p.Glu375del) http://identifiers.org/clinvar/66302 ^@ NM_000526.4(KRT14):c.1130T>A (p.Ile377Asn) http://identifiers.org/clinvar/66303 ^@ NM_000526.4(KRT14):c.1130T>C (p.Ile377Thr) http://identifiers.org/clinvar/66304 ^@ NM_000526.4(KRT14):c.1141G>A (p.Glu381Lys) http://identifiers.org/clinvar/66305 ^@ NM_000526.4(KRT14):c.1162C>G (p.Arg388Gly) http://identifiers.org/clinvar/66306 ^@ NM_000526.4(KRT14):c.1162C>T (p.Arg388Cys) http://identifiers.org/clinvar/66307 ^@ NM_000526.4(KRT14):c.1163G>C (p.Arg388Pro) http://identifiers.org/clinvar/66308 ^@ NM_000526.4(KRT14):c.1174G>T (p.Glu392Ter) http://identifiers.org/clinvar/66309 ^@ NM_000526.4(KRT14):c.1186C>T (p.Gln396Ter) http://identifiers.org/clinvar/66310 ^@ NM_000526.4(KRT14):c.1202T>C (p.Leu401Pro) http://identifiers.org/clinvar/66311 ^@ NM_000526.4(KRT14):c.1218delG (p.Arg407Glyfs) http://identifiers.org/clinvar/66312 ^@ NM_000526.4(KRT14):c.1222C>A (p.Leu408Met) http://identifiers.org/clinvar/66313 ^@ NM_000526.4(KRT14):c.1228C>T (p.Gln410Ter) http://identifiers.org/clinvar/66314 ^@ NM_000526.4(KRT14):c.1231G>A (p.Glu411Lys) http://identifiers.org/clinvar/66315 ^@ NM_000526.4(KRT14):c.1231G>T (p.Glu411Ter) http://identifiers.org/clinvar/66316 ^@ NM_000526.4(KRT14):c.1231_1233delGAG (p.Glu411del) http://identifiers.org/clinvar/66317 ^@ NM_000526.4(KRT14):c.1234A>T (p.Ile412Phe) http://identifiers.org/clinvar/66318 ^@ NM_000526.4(KRT14):c.1235T>A (p.Ile412Asn) http://identifiers.org/clinvar/66319 ^@ NM_000526.4(KRT14):c.1237G>A (p.Ala413Thr) http://identifiers.org/clinvar/66320 ^@ NM_000526.4(KRT14):c.1237G>C (p.Ala413Pro) http://identifiers.org/clinvar/66321 ^@ NM_000526.4(KRT14):c.1240_1249delACCTACCGCC (p.Thr414Alafs) http://identifiers.org/clinvar/66322 ^@ NM_000526.4(KRT14):c.1244A>G (p.Tyr415Cys) http://identifiers.org/clinvar/66323 ^@ NM_000526.4(KRT14):c.1246delC (p.Arg416Alafs) http://identifiers.org/clinvar/66324 ^@ NM_000526.4(KRT14):c.1247G>C (p.Arg416Pro) http://identifiers.org/clinvar/66325 ^@ NM_000526.4(KRT14):c.1250G>C (p.Arg417Pro) http://identifiers.org/clinvar/66326 ^@ NM_000526.4(KRT14):c.1252C>G (p.Leu418Val) http://identifiers.org/clinvar/66327 ^@ NM_000526.4(KRT14):c.129dupC (p.Ser44Glnfs) http://identifiers.org/clinvar/66328 ^@ NM_000526.4(KRT14):c.1322-13A>G http://identifiers.org/clinvar/66329 ^@ NM_000526.4(KRT14):c.17delG (p.Arg6Profs) http://identifiers.org/clinvar/66330 ^@ NM_000526.4(KRT14):c.188A>G (p.Tyr63Cys) http://identifiers.org/clinvar/66331 ^@ NM_000526.4(KRT14):c.189C>T (p.Tyr63=) http://identifiers.org/clinvar/66332 ^@ NM_000526.4(KRT14):c.193C>T (p.Leu65=) http://identifiers.org/clinvar/66333 ^@ NM_000526.4(KRT14):c.19C>T (p.Gln7Ter) http://identifiers.org/clinvar/66334 ^@ NM_000526.4(KRT14):c.231C>T (p.Ser77=) http://identifiers.org/clinvar/66335 ^@ NM_000526.4(KRT14):c.242dupG (p.Ser82Terfs) http://identifiers.org/clinvar/66336 ^@ NM_000526.4(KRT14):c.280G>A (p.Ala94Thr) http://identifiers.org/clinvar/66337 ^@ NM_000526.4(KRT14):c.313_314delGC (p.Ala105Trpfs) http://identifiers.org/clinvar/66338 ^@ NM_000526.4(KRT14):c.346A>G (p.Lys116Glu) http://identifiers.org/clinvar/66339 ^@ NM_000526.4(KRT14):c.346A>T (p.Lys116Ter) http://identifiers.org/clinvar/66340 ^@ NM_000526.4(KRT14):c.348G>C (p.Lys116Asn) http://identifiers.org/clinvar/66341 ^@ NM_000526.4(KRT14):c.355A>G (p.Met119Val) http://identifiers.org/clinvar/66342 ^@ NM_000526.4(KRT14):c.359A>C (p.Gln120Pro) http://identifiers.org/clinvar/66343 ^@ NM_000526.4(KRT14):c.359A>G (p.Gln120Arg) http://identifiers.org/clinvar/66344 ^@ NM_000526.4(KRT14):c.364C>T (p.Leu122Phe) http://identifiers.org/clinvar/66345 ^@ NM_000526.4(KRT14):c.369T>A (p.Asn123Lys) http://identifiers.org/clinvar/66346 ^@ NM_000526.4(KRT14):c.369T>C (p.Asn123=) http://identifiers.org/clinvar/66347 ^@ NM_000526.4(KRT14):c.373C>G (p.Arg125Gly) http://identifiers.org/clinvar/66348 ^@ NM_000526.4(KRT14):c.374G>C (p.Arg125Pro) http://identifiers.org/clinvar/66349 ^@ NM_000526.4(KRT14):c.374G>T (p.Arg125Leu) http://identifiers.org/clinvar/66350 ^@ NM_000526.4(KRT14):c.382T>C (p.Ser128Pro) http://identifiers.org/clinvar/66352 ^@ NM_000526.4(KRT14):c.383_385delCCT (p.Ser128del) http://identifiers.org/clinvar/66353 ^@ NM_000526.4(KRT14):c.385T>G (p.Tyr129Asp) http://identifiers.org/clinvar/66354 ^@ NM_000526.4(KRT14):c.386A>G (p.Tyr129Cys) http://identifiers.org/clinvar/66355 ^@ NM_000526.4(KRT14):c.389T>C (p.Leu130Pro) http://identifiers.org/clinvar/66356 ^@ NM_000526.4(KRT14):c.397G>A (p.Val133Met) http://identifiers.org/clinvar/66357 ^@ NM_000526.4(KRT14):c.397G>C (p.Val133Leu) http://identifiers.org/clinvar/66358 ^@ NM_000526.4(KRT14):c.397G>T (p.Val133Leu) http://identifiers.org/clinvar/66359 ^@ NM_000526.4(KRT14):c.398T>C (p.Val133Ala) http://identifiers.org/clinvar/66360 ^@ NM_000526.4(KRT14):c.399G>T (p.Val133=) http://identifiers.org/clinvar/66361 ^@ NM_000526.4(KRT14):c.400C>T (p.Arg134Cys) http://identifiers.org/clinvar/66362 ^@ NM_000526.4(KRT14):c.401G>C (p.Arg134Pro) http://identifiers.org/clinvar/66363 ^@ NM_000526.4(KRT14):c.407T>A (p.Leu136Gln) http://identifiers.org/clinvar/66364 ^@ NM_000526.4(KRT14):c.407T>C (p.Leu136Pro) http://identifiers.org/clinvar/66365 ^@ NM_000526.4(KRT14):c.419A>G (p.Asn140Ser) http://identifiers.org/clinvar/66366 ^@ NM_000526.4(KRT14):c.427delC (p.Leu143Trpfs) http://identifiers.org/clinvar/66367 ^@ NM_000526.4(KRT14):c.428T>C (p.Leu143Pro) http://identifiers.org/clinvar/66368 ^@ NM_000526.4(KRT14):c.442C>T (p.Arg148Cys) http://identifiers.org/clinvar/66369 ^@ NM_000526.4(KRT14):c.526-2A>C http://identifiers.org/clinvar/66370 ^@ NM_000526.4(KRT14):c.528T>G (p.Ile176Met) http://identifiers.org/clinvar/66371 ^@ NM_000526.4(KRT14):c.529_534delCTCACA (p.Leu177_Thr178del) http://identifiers.org/clinvar/66372 ^@ NM_000526.4(KRT14):c.556G>A (p.Val186Ile) http://identifiers.org/clinvar/66373 ^@ NM_000526.4(KRT14):c.632G>C (p.Arg211Pro) http://identifiers.org/clinvar/66374 ^@ NM_000526.4(KRT14):c.744delCinsAG (p.Tyr248Terfs) http://identifiers.org/clinvar/66375 ^@ NM_000526.4(KRT14):c.749delA (p.Lys250Argfs) http://identifiers.org/clinvar/66376 ^@ NM_000526.4(KRT14):c.803T>A (p.Val268Asp) http://identifiers.org/clinvar/66377 ^@ NM_000526.4(KRT14):c.808G>A (p.Val270Met) http://identifiers.org/clinvar/66378 ^@ NM_000526.4(KRT14):c.815T>C (p.Met272Thr) http://identifiers.org/clinvar/66379 ^@ NM_000526.4(KRT14):c.818A>G (p.Asp273Gly) http://identifiers.org/clinvar/66380 ^@ NM_000526.4(KRT14):c.821C>A (p.Ala274Asp) http://identifiers.org/clinvar/66381 ^@ NM_000526.4(KRT14):c.88C>T (p.Arg30Cys) http://identifiers.org/clinvar/66382 ^@ NM_000526.4(KRT14):c.915G>A (p.Trp305Ter) http://identifiers.org/clinvar/66383 ^@ NM_000526.4(KRT14):c.927+1G>A http://identifiers.org/clinvar/66384 ^@ NM_000526.4(KRT14):c.927+1G>T http://identifiers.org/clinvar/66385 ^@ NM_000526.4(KRT14):c.92delT (p.Ile31Thrfs) http://identifiers.org/clinvar/66386 ^@ NM_000526.4(KRT14):c.955A>C (p.Thr319Pro) http://identifiers.org/clinvar/66387 ^@ NM_001927.3(DES):c.1013T>G (p.Leu338Arg) http://identifiers.org/clinvar/66388 ^@ NM_001927.3(DES):c.1024A>G (p.Asn342Asp) http://identifiers.org/clinvar/66389 ^@ NM_001927.3(DES):c.1064G>C (p.Arg355Pro) http://identifiers.org/clinvar/66390 ^@ NM_001927.3(DES):c.1069G>C (p.Ala357Pro) http://identifiers.org/clinvar/66391 ^@ NM_001927.3(DES):c.1075_1083delGAGGCCAGT (p.Glu359_Ser361del) http://identifiers.org/clinvar/66392 ^@ NM_001927.3(DES):c.1099A>T (p.Ile367Phe) http://identifiers.org/clinvar/66393 ^@ NM_001927.3(DES):c.1109T>C (p.Leu370Pro) http://identifiers.org/clinvar/66394 ^@ NM_001927.3(DES):c.1126C>T (p.His376Tyr) http://identifiers.org/clinvar/66395 ^@ NM_001927.3(DES):c.1175T>C (p.Leu392Pro) http://identifiers.org/clinvar/66396 ^@ NM_001927.3(DES):c.1195G>T (p.Asp399Tyr) http://identifiers.org/clinvar/66397 ^@ NM_001927.3(DES):c.1201G>A (p.Glu401Lys) http://identifiers.org/clinvar/66398 ^@ NM_001927.3(DES):c.1237G>A (p.Glu413Lys) http://identifiers.org/clinvar/66399 ^@ NM_001927.3(DES):c.1333A>G (p.Thr445Ala) http://identifiers.org/clinvar/66400 ^@ NM_001927.3(DES):c.1346A>C (p.Lys449Thr) http://identifiers.org/clinvar/66401 ^@ NM_001927.3(DES):c.1358C>T (p.Thr453Ile) http://identifiers.org/clinvar/66402 ^@ NM_001927.3(DES):c.1360C>T (p.Arg454Trp) http://identifiers.org/clinvar/66403 ^@ NM_001927.3(DES):c.1370A>T (p.Glu457Val) http://identifiers.org/clinvar/66404 ^@ NM_001927.3(DES):c.1379G>T (p.Ser460Ile) http://identifiers.org/clinvar/66405 ^@ NM_001927.3(DES):c.137C>A (p.Ser46Tyr) http://identifiers.org/clinvar/66406 ^@ NM_001927.3(DES):c.137C>T (p.Ser46Phe) http://identifiers.org/clinvar/66407 ^@ NM_001927.3(DES):c.1405G>A (p.Val469Met) http://identifiers.org/clinvar/66408 ^@ NM_001927.3(DES):c.322G>A (p.Glu108Lys) http://identifiers.org/clinvar/66409 ^@ NM_001927.3(DES):c.338_339delAG (p.Gln113Argfs) http://identifiers.org/clinvar/66410 ^@ NM_001927.3(DES):c.340_342delGAG (p.Glu114del) http://identifiers.org/clinvar/66411 ^@ NM_001927.3(DES):c.347A>G (p.Asn116Ser) http://identifiers.org/clinvar/66412 ^@ NM_001927.3(DES):c.35C>T (p.Ser12Phe) http://identifiers.org/clinvar/66413 ^@ NM_001927.3(DES):c.46C>T (p.Arg16Cys) http://identifiers.org/clinvar/66414 ^@ NM_001927.3(DES):c.5G>T (p.Ser2Ile) http://identifiers.org/clinvar/66415 ^@ NM_001927.3(DES):c.640-1G>A http://identifiers.org/clinvar/66416 ^@ NM_001927.3(DES):c.640-2A>G http://identifiers.org/clinvar/66417 ^@ NM_001927.3(DES):c.721dupA (p.Val242Serfs) http://identifiers.org/clinvar/66418 ^@ NM_001927.3(DES):c.735+2_735+11delTATACCTTGG http://identifiers.org/clinvar/66419 ^@ NM_001927.3(DES):c.735+3A>G http://identifiers.org/clinvar/66420 ^@ NM_001927.3(DES):c.735G>C (p.Glu245Asp) http://identifiers.org/clinvar/66421 ^@ NM_001927.3(DES):c.821T>C (p.Leu274Pro) http://identifiers.org/clinvar/66422 ^@ NM_001927.3(DES):c.821T>G (p.Leu274Arg) http://identifiers.org/clinvar/66423 ^@ NM_001927.3(DES):c.893C>T (p.Ser298Leu) http://identifiers.org/clinvar/66424 ^@ NM_002055.4(GFAP):c.*28C>G http://identifiers.org/clinvar/66425 ^@ NM_002055.4(GFAP):c.*32C>G http://identifiers.org/clinvar/66426 ^@ NM_002055.4(GFAP):c.-264C>A http://identifiers.org/clinvar/66427 ^@ NM_002055.4(GFAP):c.-518T>A http://identifiers.org/clinvar/66428 ^@ NM_002055.4(GFAP):c.1070T>C (p.Leu357Pro) http://identifiers.org/clinvar/66429 ^@ NM_002055.4(GFAP):c.1075C>G (p.Leu359Val) http://identifiers.org/clinvar/66430 ^@ NM_002055.4(GFAP):c.1076T>C (p.Leu359Pro) http://identifiers.org/clinvar/66431 ^@ NM_002055.4(GFAP):c.1079A>T (p.Asp360Val) http://identifiers.org/clinvar/66432 ^@ NM_002055.4(GFAP):c.1090G>C (p.Ala364Pro) http://identifiers.org/clinvar/66433 ^@ NM_002055.4(GFAP):c.1091C>T (p.Ala364Val) http://identifiers.org/clinvar/66434 ^@ NM_002055.4(GFAP):c.1096T>C (p.Tyr366His) http://identifiers.org/clinvar/66435 ^@ NM_002055.4(GFAP):c.1097A>G (p.Tyr366Cys) http://identifiers.org/clinvar/66436 ^@ NM_002055.4(GFAP):c.1111G>C (p.Glu371Gln) http://identifiers.org/clinvar/66437 ^@ NM_002055.4(GFAP):c.1112A>G (p.Glu371Gly) http://identifiers.org/clinvar/66438 ^@ NM_002055.4(GFAP):c.1112A>T (p.Glu371Val) http://identifiers.org/clinvar/66439 ^@ NM_002055.4(GFAP):c.1117G>A (p.Glu373Lys) http://identifiers.org/clinvar/66440 ^@ NM_002055.4(GFAP):c.1117G>C (p.Glu373Gln) http://identifiers.org/clinvar/66441 ^@ NM_002055.4(GFAP):c.1121A>G (p.Glu374Gly) http://identifiers.org/clinvar/66442 ^@ NM_002055.4(GFAP):c.1126C>G (p.Arg376Gly) http://identifiers.org/clinvar/66443 ^@ NM_002055.4(GFAP):c.1126C>T (p.Arg376Trp) http://identifiers.org/clinvar/66444 ^@ NM_002055.4(GFAP):c.1128-151C>T http://identifiers.org/clinvar/66445 ^@ NM_002055.4(GFAP):c.1128-66C>G http://identifiers.org/clinvar/66446 ^@ NM_002055.4(GFAP):c.1140C>T (p.Pro380=) http://identifiers.org/clinvar/66447 ^@ NM_002055.4(GFAP):c.1148C>T (p.Thr383Ile) http://identifiers.org/clinvar/66448 ^@ NM_002055.4(GFAP):c.1157A>T (p.Asn386Ile) http://identifiers.org/clinvar/66449 ^@ NM_002055.4(GFAP):c.1171+471C>T http://identifiers.org/clinvar/66450 ^@ NM_002055.4(GFAP):c.1171+501C>A http://identifiers.org/clinvar/66451 ^@ NM_002055.4(GFAP):c.1172-306A>G http://identifiers.org/clinvar/66452 ^@ NM_002055.4(GFAP):c.1178G>T (p.Ser393Ile) http://identifiers.org/clinvar/66453 ^@ NM_002055.4(GFAP):c.1193C>A (p.Ser398Tyr) http://identifiers.org/clinvar/66454 ^@ NM_002055.4(GFAP):c.1250A>C (p.Asp417Ala) http://identifiers.org/clinvar/66455 ^@ NM_002055.4(GFAP):c.1258-86C>T http://identifiers.org/clinvar/66456 ^@ NM_002055.4(GFAP):c.1277A>T (p.Gln426Leu) http://identifiers.org/clinvar/66457 ^@ NM_002055.4(GFAP):c.140C>T (p.Pro47Leu) http://identifiers.org/clinvar/66458 ^@ NM_002055.4(GFAP):c.141G>A (p.Pro47=) http://identifiers.org/clinvar/66459 ^@ NM_002055.4(GFAP):c.187A>C (p.Lys63Gln) http://identifiers.org/clinvar/66460 ^@ NM_002055.4(GFAP):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/66461 ^@ NM_002055.4(GFAP):c.209G>A (p.Arg70Gln) http://identifiers.org/clinvar/66462 ^@ NM_002055.4(GFAP):c.211G>A (p.Ala71Thr) http://identifiers.org/clinvar/66463 ^@ NM_002055.4(GFAP):c.214G>A (p.Glu72Lys) http://identifiers.org/clinvar/66464 ^@ NM_002055.4(GFAP):c.218T>A (p.Met73Lys) http://identifiers.org/clinvar/66465 ^@ NM_002055.4(GFAP):c.218T>G (p.Met73Arg) http://identifiers.org/clinvar/66466 ^@ NM_002055.4(GFAP):c.221T>C (p.Met74Thr) http://identifiers.org/clinvar/66467 ^@ NM_002055.4(GFAP):c.226C>G (p.Leu76Val) http://identifiers.org/clinvar/66468 ^@ NM_002055.4(GFAP):c.230A>G (p.Asn77Ser) http://identifiers.org/clinvar/66469 ^@ NM_002055.4(GFAP):c.235C>A (p.Arg79Ser) http://identifiers.org/clinvar/66470 ^@ NM_002055.4(GFAP):c.235C>G (p.Arg79Gly) http://identifiers.org/clinvar/66471 ^@ NM_002055.4(GFAP):c.236G>C (p.Arg79Pro) http://identifiers.org/clinvar/66472 ^@ NM_002055.4(GFAP):c.236G>T (p.Arg79Leu) http://identifiers.org/clinvar/66473 ^@ NM_002055.4(GFAP):c.247T>C (p.Tyr83His) http://identifiers.org/clinvar/66474 ^@ NM_002055.4(GFAP):c.248A>C (p.Tyr83Ser) http://identifiers.org/clinvar/66475 ^@ NM_002055.4(GFAP):c.256_259delAAGGinsGAGT (p.Lys86_Val87delinsGluPhe) http://identifiers.org/clinvar/66476 ^@ NM_002055.4(GFAP):c.257A>G (p.Lys86Arg) http://identifiers.org/clinvar/66477 ^@ NM_002055.4(GFAP):c.259G>C (p.Val87Leu) http://identifiers.org/clinvar/66478 ^@ NM_002055.4(GFAP):c.260T>G (p.Val87Gly) http://identifiers.org/clinvar/66479 ^@ NM_002055.4(GFAP):c.269T>C (p.Leu90Pro) http://identifiers.org/clinvar/66480 ^@ NM_002055.4(GFAP):c.290T>C (p.Leu97Pro) http://identifiers.org/clinvar/66481 ^@ NM_002055.4(GFAP):c.302T>C (p.Leu101Pro) http://identifiers.org/clinvar/66482 ^@ NM_002055.4(GFAP):c.343G>A (p.Val115Ile) http://identifiers.org/clinvar/66483 ^@ NM_002055.4(GFAP):c.343G>T (p.Val115Phe) http://identifiers.org/clinvar/66484 ^@ NM_002055.4(GFAP):c.382G>A (p.Asp128Asn) http://identifiers.org/clinvar/66485 ^@ NM_002055.4(GFAP):c.469G>A (p.Asp157Asn) http://identifiers.org/clinvar/66486 ^@ NM_002055.4(GFAP):c.523-76G>C http://identifiers.org/clinvar/66487 ^@ NM_002055.4(GFAP):c.523-9C>G http://identifiers.org/clinvar/66488 ^@ NM_002055.4(GFAP):c.613G>A (p.Glu205Lys) http://identifiers.org/clinvar/66489 ^@ NM_002055.4(GFAP):c.619-12C>T http://identifiers.org/clinvar/66490 ^@ NM_002055.4(GFAP):c.619-96G>T http://identifiers.org/clinvar/66491 ^@ NM_002055.4(GFAP):c.619G>A (p.Glu207Lys) http://identifiers.org/clinvar/66492 ^@ NM_002055.4(GFAP):c.619G>C (p.Glu207Gln) http://identifiers.org/clinvar/66493 ^@ NM_002055.4(GFAP):c.628G>A (p.Glu210Lys) http://identifiers.org/clinvar/66494 ^@ NM_002055.4(GFAP):c.667G>C (p.Glu223Gln) http://identifiers.org/clinvar/66495 ^@ NM_002055.4(GFAP):c.704T>C (p.Leu235Pro) http://identifiers.org/clinvar/66496 ^@ NM_002055.4(GFAP):c.707A>C (p.Lys236Thr) http://identifiers.org/clinvar/66497 ^@ NM_002055.4(GFAP):c.716G>C (p.Arg239Pro) http://identifiers.org/clinvar/66498 ^@ NM_002055.4(GFAP):c.716G>T (p.Arg239Leu) http://identifiers.org/clinvar/66499 ^@ NM_002055.4(GFAP):c.724T>G (p.Tyr242Asp) http://identifiers.org/clinvar/66500 ^@ NM_002055.4(GFAP):c.731C>T (p.Ala244Val) http://identifiers.org/clinvar/66501 ^@ NM_002055.4(GFAP):c.739T>C (p.Ser247Pro) http://identifiers.org/clinvar/66502 ^@ NM_002055.4(GFAP):c.758C>G (p.Ala253Gly) http://identifiers.org/clinvar/66503 ^@ NM_002055.4(GFAP):c.759C>T (p.Ala253=) http://identifiers.org/clinvar/66504 ^@ NM_002055.4(GFAP):c.770A>G (p.Tyr257Cys) http://identifiers.org/clinvar/66505 ^@ NM_002055.4(GFAP):c.773G>C (p.Arg258Pro) http://identifiers.org/clinvar/66506 ^@ NM_002055.4(GFAP):c.781-826G>A http://identifiers.org/clinvar/66507 ^@ NM_002055.4(GFAP):c.835A>G (p.Lys279Glu) http://identifiers.org/clinvar/66508 ^@ NM_002055.4(GFAP):c.858G>A (p.Arg286=) http://identifiers.org/clinvar/66509 ^@ NM_002055.4(GFAP):c.883G>A (p.Asp295Asn) http://identifiers.org/clinvar/66510 ^@ NM_002055.4(GFAP):c.906+81A>G http://identifiers.org/clinvar/66511 ^@ NM_002055.4(GFAP):c.907-100A>C http://identifiers.org/clinvar/66512 ^@ NM_002055.4(GFAP):c.96T>C (p.Gly32=) http://identifiers.org/clinvar/66513 ^@ NM_002055.4(GFAP):c.988C>G (p.Arg330Gly) http://identifiers.org/clinvar/66514 ^@ NM_002055.4(GFAP):c.992T>C (p.Leu331Pro) http://identifiers.org/clinvar/66515 ^@ NM_002055.4(GFAP):c.994G>A (p.Glu332Lys) http://identifiers.org/clinvar/66516 ^@ NM_002272.3(KRT4):c.*269A>G http://identifiers.org/clinvar/66517 ^@ NM_002272.3(KRT4):c.638_639insACA (p.Leu213_Lys214insGln) http://identifiers.org/clinvar/66518 ^@ NM_002273.3(KRT8):c.*31C>T http://identifiers.org/clinvar/66519 ^@ NM_002273.3(KRT8):c.*38G>A http://identifiers.org/clinvar/66520 ^@ NM_002273.3(KRT8):c.*8C>T http://identifiers.org/clinvar/66521 ^@ NM_002273.3(KRT8):c.1021C>T (p.Arg341Cys) http://identifiers.org/clinvar/66522 ^@ NM_002273.3(KRT8):c.1022G>A (p.Arg341His) http://identifiers.org/clinvar/66523 ^@ NM_002273.3(KRT8):c.1128G>A (p.Glu376=) http://identifiers.org/clinvar/66524 ^@ NM_002273.3(KRT8):c.1138G>A (p.Val380Ile) http://identifiers.org/clinvar/66525 ^@ NM_002273.3(KRT8):c.1202+46A>T http://identifiers.org/clinvar/66526 ^@ NM_002273.3(KRT8):c.1261+10delC http://identifiers.org/clinvar/66527 ^@ NM_002273.3(KRT8):c.1261+20G>A http://identifiers.org/clinvar/66528 ^@ NM_002273.3(KRT8):c.1300G>A (p.Gly434Ser) http://identifiers.org/clinvar/66529 ^@ NM_002273.3(KRT8):c.1360C>T (p.Arg454Cys) http://identifiers.org/clinvar/66530 ^@ NM_002273.3(KRT8):c.1392G>T (p.Lys464Asn) http://identifiers.org/clinvar/66531 ^@ NM_002273.3(KRT8):c.158G>T (p.Gly53Val) http://identifiers.org/clinvar/66532 ^@ NM_002273.3(KRT8):c.164G>C (p.Gly55Ala) http://identifiers.org/clinvar/66533 ^@ NM_002273.3(KRT8):c.187A>G (p.Ile63Val) http://identifiers.org/clinvar/66534 ^@ NM_002273.3(KRT8):c.216G>A (p.Leu72=) http://identifiers.org/clinvar/66535 ^@ NM_002273.3(KRT8):c.681A>G (p.Leu227=) http://identifiers.org/clinvar/66536 ^@ NM_002273.3(KRT8):c.77C>G (p.Thr26Arg) http://identifiers.org/clinvar/66537 ^@ NM_002273.3(KRT8):c.955G>T (p.Ala319Ser) http://identifiers.org/clinvar/66538 ^@ NM_002276.4(KRT19):c.-99G>C http://identifiers.org/clinvar/66539 ^@ NM_002276.4(KRT19):c.179C>G (p.Ala60Gly) http://identifiers.org/clinvar/66540 ^@ NM_002276.4(KRT19):c.471T>C (p.Asn157=) http://identifiers.org/clinvar/66541 ^@ NM_002276.4(KRT19):c.49G>A (p.Gly17Ser) http://identifiers.org/clinvar/66542 ^@ NM_002276.4(KRT19):c.552C>T (p.Asn184=) http://identifiers.org/clinvar/66543 ^@ NM_002276.4(KRT19):c.685G>A (p.Val229Met) http://identifiers.org/clinvar/66544 ^@ NM_002276.4(KRT19):c.90C>T (p.Ala30=) http://identifiers.org/clinvar/66545 ^@ NM_002281.3(KRT81):c.735+4C>T http://identifiers.org/clinvar/66546 ^@ NM_002282.3(KRT83):c.558C>T (p.Asn186=) http://identifiers.org/clinvar/66547 ^@ NM_001320198.1(KRT86):c.197G>A (p.Arg66His) http://identifiers.org/clinvar/66548 ^@ NM_001320198.1(KRT86):c.340A>C (p.Asn114His) http://identifiers.org/clinvar/66549 ^@ NM_001320198.1(KRT86):c.348G>A (p.Arg116=) http://identifiers.org/clinvar/66550 ^@ NM_001320198.1(KRT86):c.416A>C (p.Gln139Pro) http://identifiers.org/clinvar/66551 ^@ NM_005382.2(NEFM):c.1006G>A (p.Gly336Ser) http://identifiers.org/clinvar/66552 ^@ NM_005382.2(NEFM):c.104T>A (p.Phe35Tyr) http://identifiers.org/clinvar/66553 ^@ NM_005382.2(NEFM):c.1104T>C (p.Asn368=) http://identifiers.org/clinvar/66554 ^@ NM_005382.2(NEFM):c.1420A>G (p.Thr474Ala) http://identifiers.org/clinvar/66555 ^@ NM_005382.2(NEFM):c.1423G>A (p.Ala475Thr) http://identifiers.org/clinvar/66556 ^@ NM_005382.2(NEFM):c.2089G>C (p.Gly697Arg) http://identifiers.org/clinvar/66557 ^@ NM_005382.2(NEFM):c.2153T>C (p.Val718Ala) http://identifiers.org/clinvar/66558 ^@ NM_005382.2(NEFM):c.2174C>A (p.Pro725Gln) http://identifiers.org/clinvar/66559 ^@ NM_005382.2(NEFM):c.2263G>T (p.Val755Leu) http://identifiers.org/clinvar/66560 ^@ NM_005382.2(NEFM):c.2485_2487delGTT (p.Val830del) http://identifiers.org/clinvar/66561 ^@ NM_005382.2(NEFM):c.2572G>A (p.Val858Ile) http://identifiers.org/clinvar/66562 ^@ NM_005382.2(NEFM):c.387T>G (p.Ile129Met) http://identifiers.org/clinvar/66563 ^@ NM_005382.2(NEFM):c.447G>C (p.Ala149=) http://identifiers.org/clinvar/66564 ^@ NM_005382.2(NEFM):c.837C>A (p.Ser279Arg) http://identifiers.org/clinvar/66565 ^@ NM_005554.3(KRT6A):c.1303C>T (p.Gln435Ter) http://identifiers.org/clinvar/66566 ^@ NM_005554.3(KRT6A):c.1381G>A (p.Glu461Lys) http://identifiers.org/clinvar/66567 ^@ NM_005554.3(KRT6A):c.1381G>C (p.Glu461Gln) http://identifiers.org/clinvar/66568 ^@ NM_005554.3(KRT6A):c.1385T>A (p.Ile462Asn) http://identifiers.org/clinvar/66569 ^@ NM_005554.3(KRT6A):c.1385T>G (p.Ile462Ser) http://identifiers.org/clinvar/66570 ^@ NM_005554.3(KRT6A):c.1387G>C (p.Ala463Pro) http://identifiers.org/clinvar/66571 ^@ NM_005554.3(KRT6A):c.1390A>C (p.Thr464Pro) http://identifiers.org/clinvar/66572 ^@ NM_005554.3(KRT6A):c.1393T>C (p.Tyr465His) http://identifiers.org/clinvar/66573 ^@ NM_005554.3(KRT6A):c.1394A>G (p.Tyr465Cys) http://identifiers.org/clinvar/66574 ^@ NM_005554.3(KRT6A):c.1403T>A (p.Leu468Gln) http://identifiers.org/clinvar/66575 ^@ NM_005554.3(KRT6A):c.1403T>C (p.Leu468Pro) http://identifiers.org/clinvar/66576 ^@ NM_005554.3(KRT6A):c.1406T>C (p.Leu469Pro) http://identifiers.org/clinvar/66577 ^@ NM_005554.3(KRT6A):c.1416G>C (p.Glu472Asp) http://identifiers.org/clinvar/66578 ^@ NM_005554.3(KRT6A):c.1511dupG (p.Ser505Glnfs) http://identifiers.org/clinvar/66579 ^@ NM_005554.3(KRT6A):c.487G>A (p.Glu163Lys) http://identifiers.org/clinvar/66580 ^@ NM_005554.3(KRT6A):c.491G>C (p.Arg164Pro) http://identifiers.org/clinvar/66581 ^@ NM_005554.3(KRT6A):c.497A>C (p.Gln166Pro) http://identifiers.org/clinvar/66582 ^@ NM_005554.3(KRT6A):c.500T>A (p.Ile167Asn) http://identifiers.org/clinvar/66583 ^@ NM_005554.3(KRT6A):c.500T>G (p.Ile167Ser) http://identifiers.org/clinvar/66584 ^@ NM_005554.3(KRT6A):c.508C>T (p.Leu170Phe) http://identifiers.org/clinvar/66585 ^@ NM_005554.3(KRT6A):c.511A>G (p.Asn171Asp) http://identifiers.org/clinvar/66586 ^@ NM_005554.3(KRT6A):c.511A>T (p.Asn171Tyr) http://identifiers.org/clinvar/66587 ^@ NM_005554.3(KRT6A):c.512A>C (p.Asn171Thr) http://identifiers.org/clinvar/66588 ^@ NM_005554.3(KRT6A):c.512A>G (p.Asn171Ser) http://identifiers.org/clinvar/66589 ^@ NM_005554.3(KRT6A):c.513C>A (p.Asn171Lys) http://identifiers.org/clinvar/66591 ^@ NM_005554.3(KRT6A):c.521T>C (p.Phe174Ser) http://identifiers.org/clinvar/66592 ^@ NM_005554.3(KRT6A):c.521T>G (p.Phe174Cys) http://identifiers.org/clinvar/66593 ^@ NM_005554.3(KRT6A):c.526T>C (p.Ser176Pro) http://identifiers.org/clinvar/66594 ^@ NM_005554.3(KRT6A):c.533T>A (p.Ile178Asn) http://identifiers.org/clinvar/66595 ^@ NM_005554.3(KRT6A):c.541-1G>C http://identifiers.org/clinvar/66596 ^@ NM_005554.3(KRT6A):c.541-1G>T http://identifiers.org/clinvar/66597 ^@ NM_005554.3(KRT6A):c.541-2A>C http://identifiers.org/clinvar/66598 ^@ NM_005554.3(KRT6A):c.541-2A>G http://identifiers.org/clinvar/66599 ^@ NM_005555.3(KRT6B):c.1381G>A (p.Glu461Lys) http://identifiers.org/clinvar/66600 ^@ NM_005555.3(KRT6B):c.516_518delCAA (p.Asn172del) http://identifiers.org/clinvar/66601 ^@ NM_005557.3(KRT16):c.1270delG (p.Glu424Argfs) http://identifiers.org/clinvar/66602 ^@ NM_005557.3(KRT16):c.25delA (p.Thr9Profs) http://identifiers.org/clinvar/66603 ^@ NM_005557.3(KRT16):c.309_320delTGGTGGTTTTGC (p.Phe106_Gly109del) http://identifiers.org/clinvar/66604 ^@ NM_005557.3(KRT16):c.362T>A (p.Met121Lys) http://identifiers.org/clinvar/66605 ^@ NM_005557.3(KRT16):c.371T>A (p.Leu124His) http://identifiers.org/clinvar/66606 ^@ NM_005557.3(KRT16):c.371T>C (p.Leu124Pro) http://identifiers.org/clinvar/66607 ^@ NM_005557.3(KRT16):c.371_373delTCA (p.Leu124_Asn125delinsHis) http://identifiers.org/clinvar/66608 ^@ NM_005557.3(KRT16):c.373A>G (p.Asn125Asp) http://identifiers.org/clinvar/66610 ^@ NM_005557.3(KRT16):c.43A>T (p.Lys15Ter) http://identifiers.org/clinvar/66611 ^@ NM_005572.3(LMNA):c.1711C>T (p.Arg571Cys) http://identifiers.org/clinvar/66612 ^@ NM_005573.3(LMNB1):c.*18C>T http://identifiers.org/clinvar/66613 ^@ NM_005573.3(LMNB1):c.1502C>T (p.Ala501Val) http://identifiers.org/clinvar/66614 ^@ NM_005573.3(LMNB1):c.414T>C (p.Tyr138=) http://identifiers.org/clinvar/66615 ^@ NM_005573.3(LMNB1):c.852T>C (p.Ser284=) http://identifiers.org/clinvar/66616 ^@ NM_006121.3(KRT1):c.1019A>G (p.Asp340Gly) http://identifiers.org/clinvar/66617 ^@ NM_006121.3(KRT1):c.1019A>T (p.Asp340Val) http://identifiers.org/clinvar/66618 ^@ NM_006121.3(KRT1):c.1072T>A (p.Tyr358Asn) http://identifiers.org/clinvar/66619 ^@ NM_006121.3(KRT1):c.1254+1G>A http://identifiers.org/clinvar/66620 ^@ NM_006121.3(KRT1):c.1310T>C (p.Leu437Pro) http://identifiers.org/clinvar/66621 ^@ NM_006121.3(KRT1):c.1360G>T (p.Ala454Ser) http://identifiers.org/clinvar/66622 ^@ NM_006121.3(KRT1):c.1376_1399del24 (p.Ala459_Gln466del) http://identifiers.org/clinvar/66623 ^@ NM_006121.3(KRT1):c.1389C>T (p.Arg463=) http://identifiers.org/clinvar/66624 ^@ NM_006121.3(KRT1):c.1413C>A (p.Thr471=) http://identifiers.org/clinvar/66625 ^@ NM_006121.3(KRT1):c.1432G>A (p.Glu478Lys) http://identifiers.org/clinvar/66626 ^@ NM_006121.3(KRT1):c.1432G>C (p.Glu478Gln) http://identifiers.org/clinvar/66627 ^@ NM_006121.3(KRT1):c.1434G>T (p.Glu478Asp) http://identifiers.org/clinvar/66628 ^@ NM_006121.3(KRT1):c.1441A>C (p.Thr481Pro) http://identifiers.org/clinvar/66629 ^@ NM_006121.3(KRT1):c.1454T>C (p.Leu485Pro) http://identifiers.org/clinvar/66630 ^@ NM_006121.3(KRT1):c.1457T>C (p.Leu486Pro) http://identifiers.org/clinvar/66631 ^@ NM_006121.3(KRT1):c.1457T>G (p.Leu486Arg) http://identifiers.org/clinvar/66632 ^@ NM_006121.3(KRT1):c.1465G>A (p.Glu489Lys) http://identifiers.org/clinvar/66633 ^@ NM_006121.3(KRT1):c.1468G>A (p.Glu490Lys) http://identifiers.org/clinvar/66634 ^@ NM_006121.3(KRT1):c.1468G>C (p.Glu490Gln) http://identifiers.org/clinvar/66635 ^@ NM_006121.3(KRT1):c.1469A>G (p.Glu490Gly) http://identifiers.org/clinvar/66636 ^@ NM_006121.3(KRT1):c.1556delG (p.Gly519Glufs) http://identifiers.org/clinvar/66637 ^@ NM_006121.3(KRT1):c.1570_1596del27 (p.Tyr525_Gly533del) http://identifiers.org/clinvar/66638 ^@ NM_006121.3(KRT1):c.1628delG (p.Gly543Valfs) http://identifiers.org/clinvar/66639 ^@ NM_006121.3(KRT1):c.1657_1677del21 (p.Ser557_Gly563del) http://identifiers.org/clinvar/66640 ^@ NM_006121.3(KRT1):c.1751dupG (p.Ser584Argfs) http://identifiers.org/clinvar/66641 ^@ NM_006121.3(KRT1):c.1762A>G (p.Arg588Gly) http://identifiers.org/clinvar/66642 ^@ NM_006121.3(KRT1):c.464T>G (p.Val155Gly) http://identifiers.org/clinvar/66643 ^@ NM_006121.3(KRT1):c.502_513delGAGATTGACCCT (p.Asp170_Ile173del) http://identifiers.org/clinvar/66644 ^@ NM_006121.3(KRT1):c.508_519delGACCCTGAGATC (p.Asp170_Ile173del) http://identifiers.org/clinvar/66645 ^@ NM_006121.3(KRT1):c.531G>T (p.Lys177Asn) http://identifiers.org/clinvar/66646 ^@ NM_006121.3(KRT1):c.536G>C (p.Arg179Pro) http://identifiers.org/clinvar/66647 ^@ NM_006121.3(KRT1):c.556T>C (p.Ser186Pro) http://identifiers.org/clinvar/66648 ^@ NM_006121.3(KRT1):c.559C>T (p.Leu187Phe) http://identifiers.org/clinvar/66649 ^@ NM_006121.3(KRT1):c.563A>C (p.Asn188Thr) http://identifiers.org/clinvar/66650 ^@ NM_006121.3(KRT1):c.563A>G (p.Asn188Ser) http://identifiers.org/clinvar/66651 ^@ NM_006121.3(KRT1):c.571T>A (p.Phe191Ile) http://identifiers.org/clinvar/66652 ^@ NM_006121.3(KRT1):c.572T>G (p.Phe191Cys) http://identifiers.org/clinvar/66653 ^@ NM_006121.3(KRT1):c.573T>G (p.Phe191Leu) http://identifiers.org/clinvar/66654 ^@ NM_006121.3(KRT1):c.577T>C (p.Ser193Pro) http://identifiers.org/clinvar/66655 ^@ NM_006121.3(KRT1):c.591+1G>A http://identifiers.org/clinvar/66656 ^@ NM_006121.3(KRT1):c.591+1G>C http://identifiers.org/clinvar/66657 ^@ NM_006121.3(KRT1):c.591+2T>A http://identifiers.org/clinvar/66658 ^@ NM_006121.3(KRT1):c.591+3_591+6delGAGT http://identifiers.org/clinvar/66659 ^@ NM_006121.3(KRT1):c.623T>C (p.Leu208Pro) http://identifiers.org/clinvar/66660 ^@ NM_006121.3(KRT1):c.641T>C (p.Leu214Pro) http://identifiers.org/clinvar/66661 ^@ NM_006121.3(KRT1):c.693T>G (p.Phe231Leu) http://identifiers.org/clinvar/66662 ^@ NM_006121.3(KRT1):c.698C>T (p.Ser233Leu) http://identifiers.org/clinvar/66663 ^@ NM_006121.3(KRT1):c.720G>A (p.Arg240=) http://identifiers.org/clinvar/66664 ^@ NM_006121.3(KRT1):c.75C>T (p.Ile25=) http://identifiers.org/clinvar/66665 ^@ NM_006121.3(KRT1):c.800G>A (p.Arg267Gln) http://identifiers.org/clinvar/66666 ^@ NM_006121.3(KRT1):c.868-31T>C http://identifiers.org/clinvar/66667 ^@ NM_006121.3(KRT1):c.963+52T>G http://identifiers.org/clinvar/66668 ^@ NM_006158.4(NEFL):c.-44_-42delGGCinsATG http://identifiers.org/clinvar/66669 ^@ NM_006158.4(NEFL):c.-48_-47delTC http://identifiers.org/clinvar/66670 ^@ NM_006158.4(NEFL):c.1045-23_1045-22insT http://identifiers.org/clinvar/66671 ^@ NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) http://identifiers.org/clinvar/66672 ^@ NM_006158.4(NEFL):c.1189G>A (p.Glu397Lys) http://identifiers.org/clinvar/66673 ^@ NM_006158.4(NEFL):c.1212C>T (p.Ser404=) http://identifiers.org/clinvar/66674 ^@ NM_006158.4(NEFL):c.123C>T (p.Ser41=) http://identifiers.org/clinvar/66675 ^@ NM_006158.4(NEFL):c.1329C>A (p.Tyr443Ter) http://identifiers.org/clinvar/66676 ^@ NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) http://identifiers.org/clinvar/66677 ^@ NM_006158.4(NEFL):c.1458C>T (p.Ala486=) http://identifiers.org/clinvar/66678 ^@ NM_006158.4(NEFL):c.1492G>A (p.Ala498Thr) http://identifiers.org/clinvar/66679 ^@ NM_006158.4(NEFL):c.1560C>A (p.Thr520=) http://identifiers.org/clinvar/66680 ^@ NM_006158.4(NEFL):c.1576dupG (p.Glu526Glyfs) http://identifiers.org/clinvar/66681 ^@ NM_006158.4(NEFL):c.1579_1581delGAG (p.Glu527del) http://identifiers.org/clinvar/66682 ^@ NM_006158.4(NEFL):c.1590T>G (p.Val530=) http://identifiers.org/clinvar/66683 ^@ NM_006158.4(NEFL):c.189G>A (p.Ser63=) http://identifiers.org/clinvar/66684 ^@ NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) http://identifiers.org/clinvar/66685 ^@ NM_006158.4(NEFL):c.227T>A (p.Val76Glu) http://identifiers.org/clinvar/66686 ^@ NM_006158.4(NEFL):c.227T>C (p.Val76Ala) http://identifiers.org/clinvar/66687 ^@ NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) http://identifiers.org/clinvar/66688 ^@ NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) http://identifiers.org/clinvar/66689 ^@ NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) http://identifiers.org/clinvar/66690 ^@ NM_006158.4(NEFL):c.268G>A (p.Glu90Lys) http://identifiers.org/clinvar/66691 ^@ NM_006158.4(NEFL):c.279G>A (p.Gln93=) http://identifiers.org/clinvar/66692 ^@ NM_006158.4(NEFL):c.423G>A (p.Gln141=) http://identifiers.org/clinvar/66693 ^@ NM_006158.4(NEFL):c.45G>A (p.Lys15=) http://identifiers.org/clinvar/66694 ^@ NM_006158.4(NEFL):c.48_60dupGCGCTACGTGGAG (p.Thr21Alafs) http://identifiers.org/clinvar/66695 ^@ NM_006158.4(NEFL):c.639C>G (p.Ile213Met) http://identifiers.org/clinvar/66696 ^@ NM_006158.4(NEFL):c.667C>T (p.Leu223=) http://identifiers.org/clinvar/66697 ^@ NM_006158.4(NEFL):c.720C>T (p.Tyr240=) http://identifiers.org/clinvar/66698 ^@ NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) http://identifiers.org/clinvar/66699 ^@ NM_006158.4(NEFL):c.963_977delATGCCGGGGCATGAA (p.Cys322_Asn326del) http://identifiers.org/clinvar/66700 ^@ NM_006158.4(NEFL):c.969G>T (p.Arg323=) http://identifiers.org/clinvar/66701 ^@ NM_006158.4(NEFL):c.998T>C (p.Leu333Pro) http://identifiers.org/clinvar/66702 ^@ NM_006262.3(PRPH):c.*82C>A http://identifiers.org/clinvar/66703 ^@ NM_006262.3(PRPH):c.-23G>C http://identifiers.org/clinvar/66704 ^@ NM_006262.3(PRPH):c.-24G>C http://identifiers.org/clinvar/66705 ^@ NM_006262.3(PRPH):c.1083C>G (p.Leu361=) http://identifiers.org/clinvar/66706 ^@ NM_006262.3(PRPH):c.1107A>G (p.Lys369=) http://identifiers.org/clinvar/66707 ^@ NM_006262.3(PRPH):c.1108G>A (p.Glu370Lys) http://identifiers.org/clinvar/66708 ^@ NM_006262.3(PRPH):c.1217+27C>A http://identifiers.org/clinvar/66709 ^@ NM_006262.3(PRPH):c.1217+34G>A http://identifiers.org/clinvar/66710 ^@ NM_006262.3(PRPH):c.1217+43C>A http://identifiers.org/clinvar/66711 ^@ NM_006262.3(PRPH):c.1267+58T>C http://identifiers.org/clinvar/66712 ^@ NM_006262.3(PRPH):c.1348-36_1348-35insA http://identifiers.org/clinvar/66713 ^@ NM_006262.3(PRPH):c.229delC (p.Arg77Alafs) http://identifiers.org/clinvar/66714 ^@ NM_006262.3(PRPH):c.26G>A (p.Arg9Gln) http://identifiers.org/clinvar/66715 ^@ NM_006262.3(PRPH):c.398G>C (p.Arg133Pro) http://identifiers.org/clinvar/66716 ^@ NM_006262.3(PRPH):c.545+69G>C http://identifiers.org/clinvar/66717 ^@ NM_006262.3(PRPH):c.547T>C (p.Leu183=) http://identifiers.org/clinvar/66718 ^@ NM_006262.3(PRPH):c.606+52T>G http://identifiers.org/clinvar/66719 ^@ NM_006262.3(PRPH):c.607-77A>C http://identifiers.org/clinvar/66720 ^@ NM_006262.3(PRPH):c.63C>T (p.Phe21=) http://identifiers.org/clinvar/66721 ^@ NM_006262.3(PRPH):c.702+27T>C http://identifiers.org/clinvar/66722 ^@ NM_006262.3(PRPH):c.703-13C>T http://identifiers.org/clinvar/66723 ^@ NM_006262.3(PRPH):c.829G>A (p.Ala277Thr) http://identifiers.org/clinvar/66724 ^@ NM_006262.3(PRPH):c.870+12G>A http://identifiers.org/clinvar/66725 ^@ NM_021076.3(NEFH):c.1054C>A (p.Arg352Ser) http://identifiers.org/clinvar/66726 ^@ NM_021076.3(NEFH):c.1138G>A (p.Ala380Thr) http://identifiers.org/clinvar/66727 ^@ NM_021076.3(NEFH):c.1203T>C (p.Ala401=) http://identifiers.org/clinvar/66728 ^@ NM_021076.3(NEFH):c.1375G>A (p.Glu459Lys) http://identifiers.org/clinvar/66729 ^@ NM_021076.3(NEFH):c.1387G>A (p.Glu463Lys) http://identifiers.org/clinvar/66730 ^@ NM_021076.3(NEFH):c.1554A>C (p.Ser518=) http://identifiers.org/clinvar/66731 ^@ NM_021076.3(NEFH):c.1629A>G (p.Glu543=) http://identifiers.org/clinvar/66732 ^@ NM_021076.3(NEFH):c.1836A>C (p.Ala612=) http://identifiers.org/clinvar/66733 ^@ NM_021076.3(NEFH):c.1844C>T (p.Pro615Leu) http://identifiers.org/clinvar/66734 ^@ NM_021076.3(NEFH):c.1878A>C (p.Ala626=) http://identifiers.org/clinvar/66735 ^@ NM_021076.3(NEFH):c.1965_1988del24 (p.Glu658_Lys665del) http://identifiers.org/clinvar/66736 ^@ NM_021076.3(NEFH):c.1989_2006del18 (p.Glu664_Pro669del) http://identifiers.org/clinvar/66738 ^@ NM_021076.3(NEFH):c.2230_2247del18 (p.Ser752_Lys757del) http://identifiers.org/clinvar/66739 ^@ NM_021076.3(NEFH):c.2234A>T (p.Lys745Met) http://identifiers.org/clinvar/66740 ^@ NM_021076.3(NEFH):c.2368_2370delAAG (p.Lys790del) http://identifiers.org/clinvar/66741 ^@ NM_021076.3(NEFH):c.2414A>C (p.Glu805Ala) http://identifiers.org/clinvar/66742 ^@ NM_021076.3(NEFH):c.269C>T (p.Ala90Val) http://identifiers.org/clinvar/66743 ^@ NM_021076.3(NEFH):c.2784A>G (p.Val928=) http://identifiers.org/clinvar/66744 ^@ NM_021076.3(NEFH):c.472C>T (p.Leu158=) http://identifiers.org/clinvar/66745 ^@ NM_021076.3(NEFH):c.745G>A (p.Gly249Ser) http://identifiers.org/clinvar/66746 ^@ NM_032737.3(LMNB2):c.265-6C>T http://identifiers.org/clinvar/66747 ^@ NM_032737.3(LMNB2):c.142G>A (p.Glu48Lys) http://identifiers.org/clinvar/66748 ^@ NM_057088.2(KRT3):c.1493A>T (p.Glu498Val) http://identifiers.org/clinvar/66749 ^@ NM_057088.2(KRT3):c.1508G>C (p.Arg503Pro) http://identifiers.org/clinvar/66750 ^@ NM_153490.2(KRT13):c.323T>C (p.Met108Thr) http://identifiers.org/clinvar/66751 ^@ NM_153490.2(KRT13):c.332T>C (p.Leu111Pro) http://identifiers.org/clinvar/66752 ^@ NM_153490.2(KRT13):c.335A>G (p.Asn112Ser) http://identifiers.org/clinvar/66753 ^@ NM_153490.2(KRT13):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/66754 ^@ NM_153490.2(KRT13):c.344T>C (p.Leu115Pro) http://identifiers.org/clinvar/66755 ^@ NM_170707.3(LMNA):c.*27G>A http://identifiers.org/clinvar/66756 ^@ NM_170707.3(LMNA):c.*79G>C http://identifiers.org/clinvar/66757 ^@ NM_170707.3(LMNA):c.-3_12delGCCATGGAGACCCCG http://identifiers.org/clinvar/66758 ^@ NM_170707.3(LMNA):c.1007G>A (p.Arg336Gln) http://identifiers.org/clinvar/66759 ^@ NM_170707.3(LMNA):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/66760 ^@ NM_170707.3(LMNA):c.1039G>A (p.Glu347Lys) http://identifiers.org/clinvar/66761 ^@ NM_170707.3(LMNA):c.103C>G (p.Leu35Val) http://identifiers.org/clinvar/66762 ^@ NM_170707.3(LMNA):c.1045C>T (p.Arg349Trp) http://identifiers.org/clinvar/66763 ^@ NM_170707.3(LMNA):c.1046G>T (p.Arg349Leu) http://identifiers.org/clinvar/66764 ^@ NM_170707.3(LMNA):c.1048G>C (p.Ala350Pro) http://identifiers.org/clinvar/66765 ^@ NM_170707.3(LMNA):c.104T>C (p.Leu35Pro) http://identifiers.org/clinvar/66766 ^@ NM_170707.3(LMNA):c.1057C>A (p.Gln353Lys) http://identifiers.org/clinvar/66767 ^@ NM_170707.3(LMNA):c.1063C>T (p.Gln355Ter) http://identifiers.org/clinvar/66768 ^@ NM_170707.3(LMNA):c.1064_1066delAGC (p.Gln355del) http://identifiers.org/clinvar/66769 ^@ NM_170707.3(LMNA):c.1069G>C (p.Asp357His) http://identifiers.org/clinvar/66770 ^@ NM_170707.3(LMNA):c.106C>T (p.Gln36Ter) http://identifiers.org/clinvar/66771 ^@ NM_170707.3(LMNA):c.1072G>T (p.Glu358Ter) http://identifiers.org/clinvar/66772 ^@ NM_170707.3(LMNA):c.1081G>A (p.Glu361Lys) http://identifiers.org/clinvar/66774 ^@ NM_170707.3(LMNA):c.1098G>A (p.Lys366=) http://identifiers.org/clinvar/66775 ^@ NM_170707.3(LMNA):c.1102_1130dup29 (p.Lys378Profs) http://identifiers.org/clinvar/66776 ^@ NM_170707.3(LMNA):c.1112T>A (p.Met371Lys) http://identifiers.org/clinvar/66777 ^@ NM_170707.3(LMNA):c.1114delG (p.Glu372Argfs) http://identifiers.org/clinvar/66778 ^@ NM_170707.3(LMNA):c.1130G>T (p.Arg377Leu) http://identifiers.org/clinvar/66779 ^@ NM_170707.3(LMNA):c.1142A>C (p.Glu381Ala) http://identifiers.org/clinvar/66780 ^@ NM_170707.3(LMNA):c.1149G>A (p.Glu383=) http://identifiers.org/clinvar/66781 ^@ NM_170707.3(LMNA):c.1157+1G>A http://identifiers.org/clinvar/66782 ^@ NM_170707.3(LMNA):c.1157G>A (p.Arg386Lys) http://identifiers.org/clinvar/66783 ^@ NM_170707.3(LMNA):c.1157G>T (p.Arg386Met) http://identifiers.org/clinvar/66784 ^@ NM_170707.3(LMNA):c.1158-2A>G http://identifiers.org/clinvar/66785 ^@ NM_170707.3(LMNA):c.1158-38G>A http://identifiers.org/clinvar/66786 ^@ NM_170707.3(LMNA):c.1158-44C>T http://identifiers.org/clinvar/66787 ^@ NM_170707.3(LMNA):c.1159C>G (p.Leu387Val) http://identifiers.org/clinvar/66788 ^@ NM_170707.3(LMNA):c.115A>T (p.Asn39Tyr) http://identifiers.org/clinvar/66789 ^@ NM_170707.3(LMNA):c.1162C>T (p.Arg388Cys) http://identifiers.org/clinvar/66790 ^@ NM_170707.3(LMNA):c.1163G>A (p.Arg388His) http://identifiers.org/clinvar/66791 ^@ NM_170707.3(LMNA):c.116A>G (p.Asn39Ser) http://identifiers.org/clinvar/66792 ^@ NM_170707.3(LMNA):c.1184C>T (p.Ser395Leu) http://identifiers.org/clinvar/66793 ^@ NM_170707.3(LMNA):c.1187A>G (p.Gln396Arg) http://identifiers.org/clinvar/66794 ^@ NM_170707.3(LMNA):c.1196G>A (p.Arg399His) http://identifiers.org/clinvar/66795 ^@ NM_170707.3(LMNA):c.11C>G (p.Pro4Arg) http://identifiers.org/clinvar/66796 ^@ NM_170707.3(LMNA):c.1232G>A (p.Gly411Asp) http://identifiers.org/clinvar/66797 ^@ NM_170707.3(LMNA):c.1243G>A (p.Val415Ile) http://identifiers.org/clinvar/66798 ^@ NM_170707.3(LMNA):c.1262T>C (p.Leu421Pro) http://identifiers.org/clinvar/66799 ^@ NM_170707.3(LMNA):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/66800 ^@ NM_170707.3(LMNA):c.1294C>T (p.Gln432Ter) http://identifiers.org/clinvar/66801 ^@ NM_170707.3(LMNA):c.1299C>T (p.His433=) http://identifiers.org/clinvar/66802 ^@ NM_170707.3(LMNA):c.1303C>T (p.Arg435Cys) http://identifiers.org/clinvar/66803 ^@ NM_170707.3(LMNA):c.1307_1308insGCAC (p.Ser437Hisfs) http://identifiers.org/clinvar/66804 ^@ NM_170707.3(LMNA):c.1315C>T (p.Arg439Cys) http://identifiers.org/clinvar/66805 ^@ NM_170707.3(LMNA):c.1337A>T (p.Asp446Val) http://identifiers.org/clinvar/66806 ^@ NM_170707.3(LMNA):c.1346G>A (p.Gly449Asp) http://identifiers.org/clinvar/66807 ^@ NM_170707.3(LMNA):c.134A>G (p.Tyr45Cys) http://identifiers.org/clinvar/66808 ^@ NM_170707.3(LMNA):c.1358G>C (p.Arg453Pro) http://identifiers.org/clinvar/66809 ^@ NM_170707.3(LMNA):c.1361T>C (p.Leu454Pro) http://identifiers.org/clinvar/66810 ^@ NM_170707.3(LMNA):c.1364G>C (p.Arg455Pro) http://identifiers.org/clinvar/66811 ^@ NM_170707.3(LMNA):c.1366A>G (p.Asn456Asp) http://identifiers.org/clinvar/66812 ^@ NM_170707.3(LMNA):c.1367A>T (p.Asn456Ile) http://identifiers.org/clinvar/66813 ^@ NM_170707.3(LMNA):c.1368C>A (p.Asn456Lys) http://identifiers.org/clinvar/66814 ^@ NM_170707.3(LMNA):c.1368_1370delCAA (p.Asn456del) http://identifiers.org/clinvar/66815 ^@ NM_170707.3(LMNA):c.136A>G (p.Ile46Val) http://identifiers.org/clinvar/66816 ^@ NM_170707.3(LMNA):c.1370delA (p.Lys457Serfs) http://identifiers.org/clinvar/66817 ^@ NM_170707.3(LMNA):c.1380+1G>A http://identifiers.org/clinvar/66818 ^@ NM_170707.3(LMNA):c.1381-8C>G http://identifiers.org/clinvar/66819 ^@ NM_170707.3(LMNA):c.1381G>T (p.Asp461Tyr) http://identifiers.org/clinvar/66820 ^@ NM_170707.3(LMNA):c.1397delA (p.Asn466Ilefs) http://identifiers.org/clinvar/66821 ^@ NM_170707.3(LMNA):c.1399T>C (p.Trp467Arg) http://identifiers.org/clinvar/66822 ^@ NM_170707.3(LMNA):c.139G>C (p.Asp47His) http://identifiers.org/clinvar/66823 ^@ NM_170707.3(LMNA):c.1406T>C (p.Ile469Thr) http://identifiers.org/clinvar/66824 ^@ NM_170707.3(LMNA):c.1411C>G (p.Arg471Gly) http://identifiers.org/clinvar/66826 ^@ NM_170707.3(LMNA):c.1441T>C (p.Tyr481His) http://identifiers.org/clinvar/66827 ^@ NM_170707.3(LMNA):c.1443C>G (p.Tyr481Ter) http://identifiers.org/clinvar/66828 ^@ NM_170707.3(LMNA):c.1458G>C (p.Lys486Asn) http://identifiers.org/clinvar/66829 ^@ NM_005572.3(LMNA):c.1458G>T (p.Lys486Asn) http://identifiers.org/clinvar/66830 ^@ NM_170707.3(LMNA):c.1462A>C (p.Thr488Pro) http://identifiers.org/clinvar/66831 ^@ NM_170707.3(LMNA):c.1488+1G>A http://identifiers.org/clinvar/66832 ^@ NM_170707.3(LMNA):c.1488+5G>A http://identifiers.org/clinvar/66833 ^@ NM_170707.3(LMNA):c.1488+5G>C http://identifiers.org/clinvar/66834 ^@ NM_170707.3(LMNA):c.1489-41C>T http://identifiers.org/clinvar/66835 ^@ NM_170707.3(LMNA):c.148C>A (p.Arg50Ser) http://identifiers.org/clinvar/66836 ^@ NM_170707.3(LMNA):c.1492T>A (p.Trp498Arg) http://identifiers.org/clinvar/66837 ^@ NM_170707.3(LMNA):c.1493delG (p.Ala499Leufs) http://identifiers.org/clinvar/66838 ^@ NM_170707.3(LMNA):c.1494G>T (p.Trp498Cys) http://identifiers.org/clinvar/66839 ^@ NM_170707.3(LMNA):c.1496delC (p.Ala499Valfs) http://identifiers.org/clinvar/66840 ^@ NM_170707.3(LMNA):c.149G>C (p.Arg50Pro) http://identifiers.org/clinvar/66841 ^@ NM_170707.3(LMNA):c.1512_1513insAG (p.Thr505Argfs) http://identifiers.org/clinvar/66842 ^@ NM_170707.3(LMNA):c.1516C>G (p.His506Asp) http://identifiers.org/clinvar/66844 ^@ NM_170707.3(LMNA):c.1535T>C (p.Leu512Pro) http://identifiers.org/clinvar/66845 ^@ NM_170707.3(LMNA):c.1558T>G (p.Trp520Gly) http://identifiers.org/clinvar/66846 ^@ NM_170707.3(LMNA):c.1559G>C (p.Trp520Ser) http://identifiers.org/clinvar/66847 ^@ NM_170707.3(LMNA):c.155T>C (p.Leu52Pro) http://identifiers.org/clinvar/66848 ^@ NM_170707.3(LMNA):c.1576_1579dupCTGC (p.Arg527Profs) http://identifiers.org/clinvar/66849 ^@ NM_170707.3(LMNA):c.1583C>A (p.Thr528Lys) http://identifiers.org/clinvar/66850 ^@ NM_170707.3(LMNA):c.1583C>G (p.Thr528Arg) http://identifiers.org/clinvar/66851 ^@ NM_170707.3(LMNA):c.1583C>T (p.Thr528Met) http://identifiers.org/clinvar/66852 ^@ NM_170707.3(LMNA):c.158A>T (p.Glu53Val) http://identifiers.org/clinvar/66853 ^@ NM_170707.3(LMNA):c.1608+1G>A http://identifiers.org/clinvar/66854 ^@ NM_170707.3(LMNA):c.1608+5G>C http://identifiers.org/clinvar/66855 ^@ NM_170707.3(LMNA):c.1609-12T>G http://identifiers.org/clinvar/66856 ^@ NM_170707.3(LMNA):c.1609-3C>G http://identifiers.org/clinvar/66857 ^@ NM_170707.3(LMNA):c.1609-5A>G http://identifiers.org/clinvar/66858 ^@ NM_170707.3(LMNA):c.1619T>C (p.Met540Thr) http://identifiers.org/clinvar/66859 ^@ NM_170707.3(LMNA):c.1621C>A (p.Arg541Ser) http://identifiers.org/clinvar/66860 ^@ NM_170707.3(LMNA):c.1622G>A (p.Arg541His) http://identifiers.org/clinvar/66861 ^@ NM_170707.3(LMNA):c.1622G>C (p.Arg541Pro) http://identifiers.org/clinvar/66862 ^@ NM_170707.3(LMNA):c.1633C>T (p.Arg545Cys) http://identifiers.org/clinvar/66863 ^@ NM_170707.3(LMNA):c.1733A>T (p.Glu578Val) http://identifiers.org/clinvar/66864 ^@ NM_170707.3(LMNA):c.1748C>T (p.Ser583Leu) http://identifiers.org/clinvar/66865 ^@ NM_170707.3(LMNA):c.1762T>C (p.Cys588Arg) http://identifiers.org/clinvar/66866 ^@ NM_170707.3(LMNA):c.1772G>T (p.Cys591Phe) http://identifiers.org/clinvar/66867 ^@ NM_170707.3(LMNA):c.1803C>T (p.Ser601=) http://identifiers.org/clinvar/66868 ^@ NM_170707.3(LMNA):c.184C>G (p.Arg62Gly) http://identifiers.org/clinvar/66869 ^@ NM_170707.3(LMNA):c.1868C>G (p.Thr623Ser) http://identifiers.org/clinvar/66870 ^@ NM_170707.3(LMNA):c.1871G>A (p.Arg624His) http://identifiers.org/clinvar/66871 ^@ NM_170707.3(LMNA):c.188T>A (p.Ile63Asn) http://identifiers.org/clinvar/66872 ^@ NM_170707.3(LMNA):c.188T>G (p.Ile63Ser) http://identifiers.org/clinvar/66873 ^@ NM_170707.3(LMNA):c.1892G>A (p.Gly631Asp) http://identifiers.org/clinvar/66874 ^@ NM_170707.3(LMNA):c.1904G>A (p.Gly635Asp) http://identifiers.org/clinvar/66875 ^@ NM_170707.3(LMNA):c.1908C>T (p.Ser636=) http://identifiers.org/clinvar/66876 ^@ NM_170707.3(LMNA):c.1930C>A (p.Arg644Ser) http://identifiers.org/clinvar/66877 ^@ NM_170707.3(LMNA):c.1960C>T (p.Arg654Ter) http://identifiers.org/clinvar/66878 ^@ NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs) http://identifiers.org/clinvar/66879 ^@ NM_170707.3(LMNA):c.1968+1G>A http://identifiers.org/clinvar/66880 ^@ NM_170707.3(LMNA):c.1968+26A>G http://identifiers.org/clinvar/66881 ^@ NM_170707.3(LMNA):c.203_208delAGGTGG (p.Glu68_Val69del) http://identifiers.org/clinvar/66882 ^@ NM_170707.3(LMNA):c.244G>A (p.Glu82Lys) http://identifiers.org/clinvar/66883 ^@ NM_170707.3(LMNA):c.265C>T (p.Arg89Cys) http://identifiers.org/clinvar/66884 ^@ NM_170707.3(LMNA):c.266G>T (p.Arg89Leu) http://identifiers.org/clinvar/66885 ^@ NM_170707.3(LMNA):c.274C>T (p.Leu92Phe) http://identifiers.org/clinvar/66886 ^@ NM_170707.3(LMNA):c.289A>G (p.Lys97Glu) http://identifiers.org/clinvar/66887 ^@ NM_170707.3(LMNA):c.28dupA (p.Thr10Asnfs) http://identifiers.org/clinvar/66888 ^@ NM_170707.3(LMNA):c.29C>T (p.Thr10Ile) http://identifiers.org/clinvar/66889 ^@ NM_170707.3(LMNA):c.302G>C (p.Arg101Pro) http://identifiers.org/clinvar/66890 ^@ NM_170707.3(LMNA):c.31delC (p.Arg11Alafs) http://identifiers.org/clinvar/66891 ^@ NM_170707.3(LMNA):c.331G>T (p.Glu111Ter) http://identifiers.org/clinvar/66892 ^@ NM_170707.3(LMNA):c.334_336delGAG (p.Glu112del) http://identifiers.org/clinvar/66893 ^@ NM_170707.3(LMNA):c.357-1G>T http://identifiers.org/clinvar/66894 ^@ NM_170707.3(LMNA):c.373G>A (p.Gly125Ser) http://identifiers.org/clinvar/66895 ^@ NM_170707.3(LMNA):c.394G>C (p.Ala132Pro) http://identifiers.org/clinvar/66896 ^@ NM_170707.3(LMNA):c.406G>C (p.Asp136His) http://identifiers.org/clinvar/66897 ^@ NM_170707.3(LMNA):c.412G>A (p.Glu138Lys) http://identifiers.org/clinvar/66898 ^@ NM_170707.3(LMNA):c.419T>C (p.Leu140Pro) http://identifiers.org/clinvar/66899 ^@ NM_170707.3(LMNA):c.427T>C (p.Ser143Pro) http://identifiers.org/clinvar/66900 ^@ NM_170707.3(LMNA):c.475G>A (p.Glu159Lys) http://identifiers.org/clinvar/66901 ^@ NM_170707.3(LMNA):c.497G>C (p.Arg166Pro) http://identifiers.org/clinvar/66902 ^@ NM_170707.3(LMNA):c.513G>A (p.Lys171=) http://identifiers.org/clinvar/66903 ^@ NM_170707.3(LMNA):c.514-1G>A http://identifiers.org/clinvar/66904 ^@ NM_170707.3(LMNA):c.548T>C (p.Leu183Pro) http://identifiers.org/clinvar/66905 ^@ NM_170707.3(LMNA):c.556G>A (p.Glu186Lys) http://identifiers.org/clinvar/66906 ^@ NM_170707.3(LMNA):c.565C>T (p.Arg189Trp) http://identifiers.org/clinvar/66907 ^@ NM_170707.3(LMNA):c.566_567delGGinsCC (p.Arg189Pro) http://identifiers.org/clinvar/66908 ^@ NM_170707.3(LMNA):c.568C>T (p.Arg190Trp) http://identifiers.org/clinvar/66909 ^@ NM_170707.3(LMNA):c.568_570dupCGG (p.Arg190_Val191insArg) http://identifiers.org/clinvar/66910 ^@ NM_170707.3(LMNA):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/66911 ^@ NM_170707.3(LMNA):c.575A>G (p.Asp192Gly) http://identifiers.org/clinvar/66912 ^@ NM_170707.3(LMNA):c.575A>T (p.Asp192Val) http://identifiers.org/clinvar/66913 ^@ NM_170707.3(LMNA):c.585C>A (p.Asn195Lys) http://identifiers.org/clinvar/66914 ^@ NM_170707.3(LMNA):c.588_596delGCTGCAGAC (p.Arg196_Thr199delinsSer) http://identifiers.org/clinvar/66915 ^@ NM_170707.3(LMNA):c.608A>T (p.Glu203Val) http://identifiers.org/clinvar/66916 ^@ NM_170707.3(LMNA):c.618C>G (p.Phe206Leu) http://identifiers.org/clinvar/66918 ^@ NM_170707.3(LMNA):c.624_626delGAA (p.Lys208del) http://identifiers.org/clinvar/66919 ^@ NM_170707.3(LMNA):c.625delA (p.Asn209Thrfs) http://identifiers.org/clinvar/66920 ^@ NM_170707.3(LMNA):c.640-10A>C http://identifiers.org/clinvar/66921 ^@ NM_170707.3(LMNA):c.640-10A>G http://identifiers.org/clinvar/66922 ^@ NM_170707.3(LMNA):c.656A>C (p.Lys219Thr) http://identifiers.org/clinvar/66923 ^@ NM_170707.3(LMNA):c.665A>C (p.His222Pro) http://identifiers.org/clinvar/66924 ^@ NM_170707.3(LMNA):c.694G>C (p.Gly232Arg) http://identifiers.org/clinvar/66925 ^@ NM_170707.3(LMNA):c.695G>A (p.Gly232Glu) http://identifiers.org/clinvar/66926 ^@ NM_170707.3(LMNA):c.723G>A (p.Leu241=) http://identifiers.org/clinvar/66927 ^@ NM_170707.3(LMNA):c.736C>T (p.Gln246Ter) http://identifiers.org/clinvar/66928 ^@ NM_170707.3(LMNA):c.73C>G (p.Arg25Gly) http://identifiers.org/clinvar/66929 ^@ NM_170707.3(LMNA):c.73C>T (p.Arg25Cys) http://identifiers.org/clinvar/66930 ^@ NM_170707.3(LMNA):c.743T>C (p.Leu248Pro) http://identifiers.org/clinvar/66931 ^@ NM_170707.3(LMNA):c.746G>A (p.Arg249Gln) http://identifiers.org/clinvar/66932 ^@ NM_170707.3(LMNA):c.74G>C (p.Arg25Pro) http://identifiers.org/clinvar/66933 ^@ NM_170707.3(LMNA):c.775T>C (p.Tyr259His) http://identifiers.org/clinvar/66934 ^@ NM_170707.3(LMNA):c.775T>G (p.Tyr259Asp) http://identifiers.org/clinvar/66935 ^@ NM_170707.3(LMNA):c.781_783delAAGins18 (p.?) http://identifiers.org/clinvar/66936 ^@ NM_170707.3(LMNA):c.788T>C (p.Leu263Pro) http://identifiers.org/clinvar/66937 ^@ NM_170707.3(LMNA):c.800A>G (p.Tyr267Cys) http://identifiers.org/clinvar/66938 ^@ NM_170707.3(LMNA):c.802T>C (p.Ser268Pro) http://identifiers.org/clinvar/66939 ^@ NM_170707.3(LMNA):c.810+1G>A http://identifiers.org/clinvar/66940 ^@ NM_170707.3(LMNA):c.810+61C>T http://identifiers.org/clinvar/66941 ^@ NM_170707.3(LMNA):c.810+63C>A http://identifiers.org/clinvar/66942 ^@ NM_170707.3(LMNA):c.810G>A (p.Lys270=) http://identifiers.org/clinvar/66943 ^@ NM_170707.3(LMNA):c.811-10T>A http://identifiers.org/clinvar/66944 ^@ NM_170707.3(LMNA):c.812T>C (p.Leu271Pro) http://identifiers.org/clinvar/66945 ^@ NM_170707.3(LMNA):c.815_818delACAAinsCCAGAC (p.Asp272Alafs) http://identifiers.org/clinvar/66946 ^@ NM_170707.3(LMNA):c.82C>T (p.Arg28Trp) http://identifiers.org/clinvar/66948 ^@ NM_170707.3(LMNA):c.864_867delCCAC (p.His289Argfs) http://identifiers.org/clinvar/66949 ^@ NM_170707.3(LMNA):c.881A>C (p.Gln294Pro) http://identifiers.org/clinvar/66950 ^@ NM_170707.3(LMNA):c.883T>C (p.Ser295Pro) http://identifiers.org/clinvar/66951 ^@ NM_170707.3(LMNA):c.896T>C (p.Ile299Thr) http://identifiers.org/clinvar/66952 ^@ NM_005572.3(LMNA):c.898G>A (p.Asp300Asn) http://identifiers.org/clinvar/66953 ^@ NM_170707.3(LMNA):c.905T>C (p.Leu302Pro) http://identifiers.org/clinvar/66954 ^@ NM_170707.3(LMNA):c.907T>C (p.Ser303Pro) http://identifiers.org/clinvar/66955 ^@ NM_170707.3(LMNA):c.908_909delCT (p.Ser303Cysfs) http://identifiers.org/clinvar/66956 ^@ NM_170707.3(LMNA):c.936+1G>T http://identifiers.org/clinvar/66957 ^@ NM_170707.3(LMNA):c.937-11C>G http://identifiers.org/clinvar/66958 ^@ NM_170707.3(LMNA):c.937-46A>G http://identifiers.org/clinvar/66959 ^@ NM_170707.3(LMNA):c.937-7C>G http://identifiers.org/clinvar/66960 ^@ NM_170707.3(LMNA):c.94_96delAAG (p.Lys32del) http://identifiers.org/clinvar/66961 ^@ NM_170707.3(LMNA):c.952G>A (p.Ala318Thr) http://identifiers.org/clinvar/66962 ^@ NM_170707.3(LMNA):c.98A>G (p.Glu33Gly) http://identifiers.org/clinvar/66963 ^@ NM_170707.3(LMNA):c.992G>C (p.Arg331Pro) http://identifiers.org/clinvar/66964 ^@ NM_170707.3(LMNA):c.99G>C (p.Glu33Asp) http://identifiers.org/clinvar/66965 ^@ NM_170707.3(LMNA):c.99G>T (p.Glu33Asp) http://identifiers.org/clinvar/66966 ^@ NM_173086.4(KRT6C):c.1384_1410del27 (p.Ile462_Glu470del) http://identifiers.org/clinvar/66968 ^@ NM_175053.3(KRT74):c.1391-1G>A http://identifiers.org/clinvar/66969 ^@ NM_000421.3(KRT10):c.466C>G (p.Arg156Gly) http://identifiers.org/clinvar/66970 ^@ NM_170707.3(LMNA):c.506delT (p.Val169Glyfs) http://identifiers.org/clinvar/66984 ^@ NM_005334.2(HCFC1):c.344C>T (p.Ala115Val) http://identifiers.org/clinvar/66985 ^@ NM_005334.2(HCFC1):c.218C>T (p.Ala73Val) http://identifiers.org/clinvar/66986 ^@ NM_005334.2(HCFC1):c.217G>A (p.Ala73Thr) http://identifiers.org/clinvar/66987 ^@ NM_080860.3(RSPH1):c.85G>T (p.Glu29Ter) http://identifiers.org/clinvar/66988 ^@ NM_080860.3(RSPH1):c.366-3C>A http://identifiers.org/clinvar/66989 ^@ NM_080860.3(RSPH1):c.407_410delAGTA (p.Lys136Metfs) http://identifiers.org/clinvar/66990 ^@ NM_080860.3(RSPH1):c.275-2A>C (p.Gly92AlafsTer10) http://identifiers.org/clinvar/66991 ^@ NM_080860.3(RSPH1):c.308G>A (p.Gly103Asp) http://identifiers.org/clinvar/66992 ^@ NM_001010892.2(RSPH4A):c.667delA (p.Ser223Alafs) http://identifiers.org/clinvar/66993 ^@ NM_001010892.2(RSPH4A):c.1270delA (p.Thr424Glnfs) http://identifiers.org/clinvar/66994 ^@ NM_152732.4(RSPH9):c.804_806delGAA (p.Lys268del) http://identifiers.org/clinvar/66995 ^@ NM_152732.4(RSPH9):c.52C>T (p.Gln18Ter) http://identifiers.org/clinvar/66996 ^@ NM_015284.3(SZT2):c.73C>T (p.Arg25Ter) http://identifiers.org/clinvar/66997 ^@ NM_015284.3(SZT2):c.2092C>T (p.Gln698Ter) http://identifiers.org/clinvar/66998 ^@ NM_015284.3(SZT2):c.1496G>T (p.Ser499Ile) http://identifiers.org/clinvar/67003 ^@ NM_000218.2(KCNQ1):c.1003T>C (p.Phe335Leu) http://identifiers.org/clinvar/67004 ^@ NM_000218.2(KCNQ1):c.1016T>A (p.Phe339Tyr) http://identifiers.org/clinvar/67005 ^@ NM_000218.2(KCNQ1):c.1022C>G (p.Ala341Gly) http://identifiers.org/clinvar/67006 ^@ NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) http://identifiers.org/clinvar/67007 ^@ NM_000218.2(KCNQ1):c.1048G>A (p.Gly350Arg) http://identifiers.org/clinvar/67008 ^@ NM_000218.2(KCNQ1):c.1061A>G (p.Lys354Arg) http://identifiers.org/clinvar/67009 ^@ NM_000218.2(KCNQ1):c.1078A>G (p.Arg360Gly) http://identifiers.org/clinvar/67010 ^@ NM_000218.2(KCNQ1):c.1079G>T (p.Arg360Met) http://identifiers.org/clinvar/67011 ^@ NM_000218.2(KCNQ1):c.1093A>C (p.Asn365His) http://identifiers.org/clinvar/67012 ^@ NM_000218.2(KCNQ1):c.1117T>C (p.Ser373Pro) http://identifiers.org/clinvar/67013 ^@ NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) http://identifiers.org/clinvar/67014 ^@ NM_000218.2(KCNQ1):c.1135T>G (p.Trp379Gly) http://identifiers.org/clinvar/67015 ^@ NM_000218.2(KCNQ1):c.1136G>C (p.Trp379Ser) http://identifiers.org/clinvar/67016 ^@ NM_000218.2(KCNQ1):c.1138A>G (p.Arg380Gly) http://identifiers.org/clinvar/67017 ^@ NM_000218.2(KCNQ1):c.1153G>A (p.Glu385Lys) http://identifiers.org/clinvar/67018 ^@ NM_000218.2(KCNQ1):c.1165T>C (p.Ser389Pro) http://identifiers.org/clinvar/67019 ^@ NM_000218.2(KCNQ1):c.1174T>C (p.Trp392Arg) http://identifiers.org/clinvar/67020 ^@ NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) http://identifiers.org/clinvar/67021 ^@ NM_000218.2(KCNQ1):c.1193A>G (p.Lys398Arg) http://identifiers.org/clinvar/67022 ^@ NM_000218.2(KCNQ1):c.1265A>C (p.Lys422Thr) http://identifiers.org/clinvar/67023 ^@ NM_000218.2(KCNQ1):c.1283A>G (p.Asp428Gly) http://identifiers.org/clinvar/67024 ^@ NM_000218.2(KCNQ1):c.1321C>T (p.Pro441Ser) http://identifiers.org/clinvar/67025 ^@ NM_000218.2(KCNQ1):c.1338C>G (p.Asp446Glu) http://identifiers.org/clinvar/67026 ^@ NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) http://identifiers.org/clinvar/67027 ^@ NM_000218.2(KCNQ1):c.1343C>T (p.Pro448Leu) http://identifiers.org/clinvar/67028 ^@ NM_000218.2(KCNQ1):c.1351C>T (p.Arg451Trp) http://identifiers.org/clinvar/67029 ^@ NM_000218.2(KCNQ1):c.1352G>A (p.Arg451Gln) http://identifiers.org/clinvar/67030 ^@ NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) http://identifiers.org/clinvar/67031 ^@ NM_000218.2(KCNQ1):c.1378G>A (p.Gly460Ser) http://identifiers.org/clinvar/67032 ^@ NM_000218.2(KCNQ1):c.1430C>T (p.Pro477Leu) http://identifiers.org/clinvar/67033 ^@ NM_000218.2(KCNQ1):c.1451G>C (p.Ser484Thr) http://identifiers.org/clinvar/67034 ^@ NM_000218.2(KCNQ1):c.1531C>T (p.Arg511Trp) http://identifiers.org/clinvar/67035 ^@ NM_000218.2(KCNQ1):c.1550T>C (p.Ile517Thr) http://identifiers.org/clinvar/67036 ^@ NM_000218.2(KCNQ1):c.1553G>A (p.Arg518Gln) http://identifiers.org/clinvar/67037 ^@ NM_000218.2(KCNQ1):c.1555C>T (p.Arg519Cys) http://identifiers.org/clinvar/67038 ^@ NM_000218.2(KCNQ1):c.1556G>A (p.Arg519His) http://identifiers.org/clinvar/67039 ^@ NM_000218.2(KCNQ1):c.1565A>C (p.Tyr522Ser) http://identifiers.org/clinvar/67040 ^@ NM_000218.2(KCNQ1):c.1574C>T (p.Ala525Val) http://identifiers.org/clinvar/67041 ^@ NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp) http://identifiers.org/clinvar/67042 ^@ NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) http://identifiers.org/clinvar/67043 ^@ NM_000218.2(KCNQ1):c.1621G>A (p.Val541Ile) http://identifiers.org/clinvar/67044 ^@ NM_000218.2(KCNQ1):c.1627G>A (p.Glu543Lys) http://identifiers.org/clinvar/67045 ^@ NM_000218.2(KCNQ1):c.1640A>G (p.Gln547Arg) http://identifiers.org/clinvar/67046 ^@ NM_000218.2(KCNQ1):c.1663C>A (p.Arg555Ser) http://identifiers.org/clinvar/67047 ^@ NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) http://identifiers.org/clinvar/67048 ^@ NM_000218.2(KCNQ1):c.1685G>T (p.Arg562Met) http://identifiers.org/clinvar/67049 ^@ NM_000218.2(KCNQ1):c.1696T>C (p.Ser566Pro) http://identifiers.org/clinvar/67050 ^@ NM_000218.2(KCNQ1):c.1705A>G (p.Lys569Glu) http://identifiers.org/clinvar/67051 ^@ NM_000218.2(KCNQ1):c.170G>T (p.Gly57Val) http://identifiers.org/clinvar/67052 ^@ NM_000218.2(KCNQ1):c.1712C>T (p.Ser571Leu) http://identifiers.org/clinvar/67053 ^@ NM_000218.2(KCNQ1):c.1748G>A (p.Arg583His) http://identifiers.org/clinvar/67054 ^@ NM_000218.2(KCNQ1):c.1750G>A (p.Gly584Ser) http://identifiers.org/clinvar/67055 ^@ NM_000218.2(KCNQ1):c.1786G>A (p.Glu596Lys) http://identifiers.org/clinvar/67056 ^@ NM_000218.2(KCNQ1):c.1793A>G (p.Lys598Arg) http://identifiers.org/clinvar/67057 ^@ NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) http://identifiers.org/clinvar/67058 ^@ NM_000218.2(KCNQ1):c.1805T>C (p.Leu602Pro) http://identifiers.org/clinvar/67059 ^@ NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) http://identifiers.org/clinvar/67060 ^@ NM_000218.2(KCNQ1):c.1831G>T (p.Asp611Tyr) http://identifiers.org/clinvar/67061 ^@ NM_000218.2(KCNQ1):c.1861G>A (p.Gly621Ser) http://identifiers.org/clinvar/67062 ^@ NM_000218.2(KCNQ1):c.1903G>A (p.Gly635Arg) http://identifiers.org/clinvar/67063 ^@ NM_000218.2(KCNQ1):c.197C>T (p.Ser66Phe) http://identifiers.org/clinvar/67064 ^@ NM_000218.2(KCNQ1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/67065 ^@ NM_000218.2(KCNQ1):c.314A>T (p.His105Leu) http://identifiers.org/clinvar/67066 ^@ NM_000218.2(KCNQ1):c.356G>A (p.Gly119Asp) http://identifiers.org/clinvar/67067 ^@ NM_000218.2(KCNQ1):c.381C>A (p.Phe127Leu) http://identifiers.org/clinvar/67068 ^@ NM_000218.2(KCNQ1):c.385G>A (p.Val129Ile) http://identifiers.org/clinvar/67069 ^@ NM_000218.2(KCNQ1):c.397G>A (p.Val133Ile) http://identifiers.org/clinvar/67070 ^@ NM_000218.2(KCNQ1):c.401T>C (p.Leu134Pro) http://identifiers.org/clinvar/67071 ^@ NM_000218.2(KCNQ1):c.40C>T (p.Arg14Cys) http://identifiers.org/clinvar/67072 ^@ NM_000218.2(KCNQ1):c.421G>A (p.Val141Met) http://identifiers.org/clinvar/67073 ^@ NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) http://identifiers.org/clinvar/67074 ^@ NM_000218.2(KCNQ1):c.440A>G (p.Gln147Arg) http://identifiers.org/clinvar/67075 ^@ NM_000218.2(KCNQ1):c.458C>T (p.Thr153Met) http://identifiers.org/clinvar/67076 ^@ NM_000218.2(KCNQ1):c.479A>T (p.Glu160Val) http://identifiers.org/clinvar/67077 ^@ NM_000218.2(KCNQ1):c.484G>A (p.Val162Met) http://identifiers.org/clinvar/67078 ^@ NM_000218.2(KCNQ1):c.514G>A (p.Val172Met) http://identifiers.org/clinvar/67079 ^@ NM_000218.2(KCNQ1):c.541C>T (p.Arg181Cys) http://identifiers.org/clinvar/67080 ^@ NM_000218.2(KCNQ1):c.548A>G (p.Lys183Arg) http://identifiers.org/clinvar/67081 ^@ NM_000218.2(KCNQ1):c.550T>C (p.Tyr184His) http://identifiers.org/clinvar/67082 ^@ NM_000218.2(KCNQ1):c.556G>A (p.Gly186Ser) http://identifiers.org/clinvar/67083 ^@ NM_000218.2(KCNQ1):c.565G>C (p.Gly189Arg) http://identifiers.org/clinvar/67084 ^@ NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) http://identifiers.org/clinvar/67085 ^@ NM_000218.2(KCNQ1):c.575G>A (p.Arg192His) http://identifiers.org/clinvar/67086 ^@ NM_000218.2(KCNQ1):c.579T>A (p.Phe193Leu) http://identifiers.org/clinvar/67087 ^@ NM_000218.2(KCNQ1):c.583C>T (p.Arg195Trp) http://identifiers.org/clinvar/67088 ^@ NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) http://identifiers.org/clinvar/67089 ^@ NM_000218.2(KCNQ1):c.592A>G (p.Ile198Val) http://identifiers.org/clinvar/67090 ^@ NM_000218.2(KCNQ1):c.595T>G (p.Ser199Ala) http://identifiers.org/clinvar/67091 ^@ NM_000218.2(KCNQ1):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/67092 ^@ NM_000218.2(KCNQ1):c.604G>C (p.Asp202His) http://identifiers.org/clinvar/67093 ^@ NM_000218.2(KCNQ1):c.608T>C (p.Leu203Pro) http://identifiers.org/clinvar/67094 ^@ NM_000218.2(KCNQ1):c.625T>C (p.Ser209Pro) http://identifiers.org/clinvar/67095 ^@ NM_000218.2(KCNQ1):c.652A>G (p.Lys218Glu) http://identifiers.org/clinvar/67096 ^@ NM_000218.2(KCNQ1):c.671C>T (p.Thr224Met) http://identifiers.org/clinvar/67097 ^@ NM_000218.2(KCNQ1):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/67098 ^@ NM_000218.2(KCNQ1):c.722T>G (p.Val241Gly) http://identifiers.org/clinvar/67099 ^@ NM_000218.2(KCNQ1):c.724G>T (p.Asp242Tyr) http://identifiers.org/clinvar/67100 ^@ NM_000218.2(KCNQ1):c.727C>A (p.Arg243Ser) http://identifiers.org/clinvar/67101 ^@ NM_000218.2(KCNQ1):c.742T>C (p.Trp248Arg) http://identifiers.org/clinvar/67102 ^@ NM_000218.2(KCNQ1):c.744G>C (p.Trp248Cys) http://identifiers.org/clinvar/67103 ^@ NM_000218.2(KCNQ1):c.749T>C (p.Leu250Pro) http://identifiers.org/clinvar/67104 ^@ NM_000218.2(KCNQ1):c.760G>C (p.Val254Leu) http://identifiers.org/clinvar/67105 ^@ NM_000218.2(KCNQ1):c.773A>C (p.His258Pro) http://identifiers.org/clinvar/67106 ^@ NM_000218.2(KCNQ1):c.781G>C (p.Glu261Gln) http://identifiers.org/clinvar/67107 ^@ NM_000218.2(KCNQ1):c.803T>G (p.Ile268Ser) http://identifiers.org/clinvar/67108 ^@ NM_000218.2(KCNQ1):c.815G>T (p.Gly272Val) http://identifiers.org/clinvar/67109 ^@ NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) http://identifiers.org/clinvar/67110 ^@ NM_000218.2(KCNQ1):c.829T>C (p.Ser277Pro) http://identifiers.org/clinvar/67111 ^@ NM_000218.2(KCNQ1):c.832T>C (p.Tyr278His) http://identifiers.org/clinvar/67112 ^@ NM_000218.2(KCNQ1):c.842A>G (p.Tyr281Cys) http://identifiers.org/clinvar/67113 ^@ NM_000218.2(KCNQ1):c.845T>C (p.Leu282Pro) http://identifiers.org/clinvar/67114 ^@ NM_000218.2(KCNQ1):c.848C>G (p.Ala283Gly) http://identifiers.org/clinvar/67115 ^@ NM_000218.2(KCNQ1):c.850G>A (p.Glu284Lys) http://identifiers.org/clinvar/67116 ^@ NM_000218.2(KCNQ1):c.875G>A (p.Gly292Asp) http://identifiers.org/clinvar/67117 ^@ NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) http://identifiers.org/clinvar/67118 ^@ NM_000218.2(KCNQ1):c.878G>A (p.Arg293His) http://identifiers.org/clinvar/67119 ^@ NM_000218.2(KCNQ1):c.887T>C (p.Phe296Ser) http://identifiers.org/clinvar/67120 ^@ NM_000218.2(KCNQ1):c.889G>A (p.Gly297Ser) http://identifiers.org/clinvar/67121 ^@ NM_000218.2(KCNQ1):c.905C>A (p.Ala302Glu) http://identifiers.org/clinvar/67122 ^@ NM_000218.2(KCNQ1):c.908T>C (p.Leu303Pro) http://identifiers.org/clinvar/67123 ^@ NM_000218.2(KCNQ1):c.916G>C (p.Gly306Arg) http://identifiers.org/clinvar/67124 ^@ NM_000218.2(KCNQ1):c.929T>A (p.Val310Asp) http://identifiers.org/clinvar/67125 ^@ NM_000218.2(KCNQ1):c.931A>G (p.Thr311Ala) http://identifiers.org/clinvar/67126 ^@ NM_000218.2(KCNQ1):c.941G>C (p.Gly314Ala) http://identifiers.org/clinvar/67127 ^@ NM_000218.2(KCNQ1):c.947G>T (p.Gly316Val) http://identifiers.org/clinvar/67128 ^@ NM_000218.2(KCNQ1):c.949G>T (p.Asp317Tyr) http://identifiers.org/clinvar/67129 ^@ NM_000218.2(KCNQ1):c.950A>G (p.Asp317Gly) http://identifiers.org/clinvar/67130 ^@ NM_000218.2(KCNQ1):c.958C>T (p.Pro320Ser) http://identifiers.org/clinvar/67142 ^@ NM_000219.5(KCNE1):c.202T>A (p.Ser68Thr) http://identifiers.org/clinvar/67161 ^@ NM_000238.3(KCNH2):c.1001C>T (p.Pro334Leu) http://identifiers.org/clinvar/67162 ^@ NM_000238.3(KCNH2):c.1025A>T (p.Asp342Val) http://identifiers.org/clinvar/67163 ^@ NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) http://identifiers.org/clinvar/67164 ^@ NM_000238.3(KCNH2):c.1099A>T (p.Thr367Ser) http://identifiers.org/clinvar/67165 ^@ NM_000238.3(KCNH2):c.1199T>A (p.Ile400Asn) http://identifiers.org/clinvar/67166 ^@ NM_000238.3(KCNH2):c.1205A>G (p.His402Arg) http://identifiers.org/clinvar/67167 ^@ NM_000238.3(KCNH2):c.121G>T (p.Val41Phe) http://identifiers.org/clinvar/67168 ^@ NM_000238.3(KCNH2):c.1229G>C (p.Trp410Ser) http://identifiers.org/clinvar/67169 ^@ NM_000238.3(KCNH2):c.122T>C (p.Val41Ala) http://identifiers.org/clinvar/67170 ^@ NM_000238.3(KCNH2):c.1238T>C (p.Leu413Pro) http://identifiers.org/clinvar/67171 ^@ NM_000238.3(KCNH2):c.1259A>G (p.Tyr420Cys) http://identifiers.org/clinvar/67172 ^@ NM_000238.3(KCNH2):c.125T>A (p.Ile42Asn) http://identifiers.org/clinvar/67173 ^@ NM_000238.3(KCNH2):c.1262C>T (p.Thr421Met) http://identifiers.org/clinvar/67174 ^@ NM_000238.3(KCNH2):c.1264G>A (p.Ala422Thr) http://identifiers.org/clinvar/67175 ^@ NM_000238.3(KCNH2):c.1277C>A (p.Pro426His) http://identifiers.org/clinvar/67176 ^@ NM_000238.3(KCNH2):c.1279T>C (p.Tyr427His) http://identifiers.org/clinvar/67177 ^@ NM_000238.3(KCNH2):c.127T>G (p.Tyr43Asp) http://identifiers.org/clinvar/67178 ^@ NM_000238.3(KCNH2):c.1280A>C (p.Tyr427Ser) http://identifiers.org/clinvar/67179 ^@ NM_000238.3(KCNH2):c.1280A>G (p.Tyr427Cys) http://identifiers.org/clinvar/67180 ^@ NM_000238.3(KCNH2):c.1283C>T (p.Ser428Leu) http://identifiers.org/clinvar/67181 ^@ NM_000238.3(KCNH2):c.1285G>C (p.Ala429Pro) http://identifiers.org/clinvar/67182 ^@ NM_000238.3(KCNH2):c.128A>G (p.Tyr43Cys) http://identifiers.org/clinvar/67183 ^@ NM_000238.3(KCNH2):c.1293C>A (p.Phe431Leu) http://identifiers.org/clinvar/67184 ^@ NM_000238.3(KCNH2):c.1307C>T (p.Thr436Met) http://identifiers.org/clinvar/67185 ^@ NM_000238.3(KCNH2):c.1319C>T (p.Pro440Leu) http://identifiers.org/clinvar/67186 ^@ NM_000238.3(KCNH2):c.131G>T (p.Cys44Phe) http://identifiers.org/clinvar/67187 ^@ NM_000238.3(KCNH2):c.132C>G (p.Cys44Trp) http://identifiers.org/clinvar/67188 ^@ NM_000238.3(KCNH2):c.1332G>T (p.Glu444Asp) http://identifiers.org/clinvar/67189 ^@ NM_000238.3(KCNH2):c.133A>T (p.Asn45Tyr) http://identifiers.org/clinvar/67190 ^@ NM_000238.3(KCNH2):c.1352C>T (p.Pro451Leu) http://identifiers.org/clinvar/67191 ^@ NM_000238.3(KCNH2):c.1366G>T (p.Asp456Tyr) http://identifiers.org/clinvar/67192 ^@ NM_000238.3(KCNH2):c.1378G>T (p.Asp460Tyr) http://identifiers.org/clinvar/67193 ^@ NM_000238.3(KCNH2):c.1387T>C (p.Phe463Leu) http://identifiers.org/clinvar/67194 ^@ NM_000238.3(KCNH2):c.1396G>T (p.Asp466Tyr) http://identifiers.org/clinvar/67195 ^@ NM_000238.3(KCNH2):c.140G>T (p.Gly47Val) http://identifiers.org/clinvar/67196 ^@ NM_000238.3(KCNH2):c.1417A>C (p.Thr473Pro) http://identifiers.org/clinvar/67197 ^@ NM_000238.3(KCNH2):c.1418C>A (p.Thr473Asn) http://identifiers.org/clinvar/67198 ^@ NM_000238.3(KCNH2):c.1421C>T (p.Thr474Ile) http://identifiers.org/clinvar/67199 ^@ NM_000238.3(KCNH2):c.1424A>G (p.Tyr475Cys) http://identifiers.org/clinvar/67200 ^@ NM_000238.3(KCNH2):c.1426G>A (p.Val476Ile) http://identifiers.org/clinvar/67201 ^@ NM_000238.3(KCNH2):c.1465A>T (p.Ile489Phe) http://identifiers.org/clinvar/67202 ^@ NM_000238.3(KCNH2):c.1468G>C (p.Ala490Pro) http://identifiers.org/clinvar/67203 ^@ NM_000238.3(KCNH2):c.146G>A (p.Cys49Tyr) http://identifiers.org/clinvar/67204 ^@ NM_000238.3(KCNH2):c.1474C>T (p.His492Tyr) http://identifiers.org/clinvar/67205 ^@ NM_000238.3(KCNH2):c.1478A>C (p.Tyr493Ser) http://identifiers.org/clinvar/67206 ^@ NM_000238.3(KCNH2):c.1478A>G (p.Tyr493Cys) http://identifiers.org/clinvar/67207 ^@ NM_000238.3(KCNH2):c.1478A>T (p.Tyr493Phe) http://identifiers.org/clinvar/67208 ^@ NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) http://identifiers.org/clinvar/67209 ^@ NM_000238.3(KCNH2):c.1501G>C (p.Asp501His) http://identifiers.org/clinvar/67210 ^@ NM_000238.3(KCNH2):c.1502A>G (p.Asp501Gly) http://identifiers.org/clinvar/67211 ^@ NM_000238.3(KCNH2):c.150G>T (p.Glu50Asp) http://identifiers.org/clinvar/67212 ^@ NM_000238.3(KCNH2):c.1564G>A (p.Gly522Arg) http://identifiers.org/clinvar/67213 ^@ NM_000238.3(KCNH2):c.1575G>T (p.Lys525Asn) http://identifiers.org/clinvar/67214 ^@ NM_000238.3(KCNH2):c.157G>A (p.Gly53Ser) http://identifiers.org/clinvar/67215 ^@ NM_000238.3(KCNH2):c.157G>C (p.Gly53Arg) http://identifiers.org/clinvar/67216 ^@ NM_000238.3(KCNH2):c.1583G>C (p.Arg528Pro) http://identifiers.org/clinvar/67217 ^@ NM_000238.3(KCNH2):c.158G>A (p.Gly53Asp) http://identifiers.org/clinvar/67218 ^@ NM_000238.3(KCNH2):c.1591C>T (p.Arg531Trp) http://identifiers.org/clinvar/67219 ^@ NM_000238.3(KCNH2):c.1592G>A (p.Arg531Gln) http://identifiers.org/clinvar/67220 ^@ NM_000238.3(KCNH2):c.1600C>T (p.Arg534Cys) http://identifiers.org/clinvar/67221 ^@ NM_000238.3(KCNH2):c.1601G>T (p.Arg534Leu) http://identifiers.org/clinvar/67222 ^@ NM_000238.3(KCNH2):c.1609C>T (p.Arg537Trp) http://identifiers.org/clinvar/67223 ^@ NM_000238.3(KCNH2):c.160T>C (p.Tyr54His) http://identifiers.org/clinvar/67224 ^@ NM_000238.3(KCNH2):c.164C>T (p.Ser55Leu) http://identifiers.org/clinvar/67225 ^@ NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser) http://identifiers.org/clinvar/67226 ^@ NM_000238.3(KCNH2):c.1673C>A (p.Ala558Glu) http://identifiers.org/clinvar/67227 ^@ NM_000238.3(KCNH2):c.1676T>A (p.Leu559His) http://identifiers.org/clinvar/67228 ^@ NM_000238.3(KCNH2):c.167G>A (p.Arg56Gln) http://identifiers.org/clinvar/67229 ^@ NM_000238.3(KCNH2):c.1681G>A (p.Ala561Thr) http://identifiers.org/clinvar/67230 ^@ NM_000238.3(KCNH2):c.1681G>C (p.Ala561Pro) http://identifiers.org/clinvar/67231 ^@ NM_000238.3(KCNH2):c.1685A>C (p.His562Pro) http://identifiers.org/clinvar/67232 ^@ NM_000238.3(KCNH2):c.1685A>G (p.His562Arg) http://identifiers.org/clinvar/67233 ^@ NM_000238.3(KCNH2):c.1687T>G (p.Trp563Gly) http://identifiers.org/clinvar/67234 ^@ NM_000238.3(KCNH2):c.1689G>T (p.Trp563Cys) http://identifiers.org/clinvar/67235 ^@ NM_000238.3(KCNH2):c.1691T>C (p.Leu564Pro) http://identifiers.org/clinvar/67236 ^@ NM_000238.3(KCNH2):c.1693G>A (p.Ala565Thr) http://identifiers.org/clinvar/67237 ^@ NM_000238.3(KCNH2):c.1696T>G (p.Cys566Gly) http://identifiers.org/clinvar/67238 ^@ NM_000238.3(KCNH2):c.1697G>C (p.Cys566Ser) http://identifiers.org/clinvar/67239 ^@ NM_000238.3(KCNH2):c.1697G>T (p.Cys566Phe) http://identifiers.org/clinvar/67240 ^@ NM_000238.3(KCNH2):c.169G>C (p.Ala57Pro) http://identifiers.org/clinvar/67241 ^@ NM_000238.3(KCNH2):c.1700T>C (p.Ile567Thr) http://identifiers.org/clinvar/67242 ^@ NM_000238.3(KCNH2):c.1702T>C (p.Trp568Arg) http://identifiers.org/clinvar/67243 ^@ NM_000238.3(KCNH2):c.1704G>C (p.Trp568Cys) http://identifiers.org/clinvar/67244 ^@ NM_000238.3(KCNH2):c.1704G>T (p.Trp568Cys) http://identifiers.org/clinvar/67245 ^@ NM_000238.3(KCNH2):c.1705T>C (p.Tyr569His) http://identifiers.org/clinvar/67246 ^@ NM_000238.3(KCNH2):c.1711A>C (p.Ile571Leu) http://identifiers.org/clinvar/67247 ^@ NM_000238.3(KCNH2):c.1711A>G (p.Ile571Val) http://identifiers.org/clinvar/67248 ^@ NM_000238.3(KCNH2):c.1714G>A (p.Gly572Ser) http://identifiers.org/clinvar/67249 ^@ NM_000238.3(KCNH2):c.1714G>T (p.Gly572Cys) http://identifiers.org/clinvar/67250 ^@ NM_000238.3(KCNH2):c.1715G>A (p.Gly572Asp) http://identifiers.org/clinvar/67251 ^@ NM_000238.3(KCNH2):c.1715G>T (p.Gly572Val) http://identifiers.org/clinvar/67252 ^@ NM_000238.3(KCNH2):c.1720A>G (p.Met574Val) http://identifiers.org/clinvar/67253 ^@ NM_000238.3(KCNH2):c.1724A>G (p.Glu575Gly) http://identifiers.org/clinvar/67254 ^@ NM_000238.3(KCNH2):c.172G>A (p.Glu58Lys) http://identifiers.org/clinvar/67255 ^@ NM_000238.3(KCNH2):c.1736T>C (p.Met579Thr) http://identifiers.org/clinvar/67256 ^@ NM_000238.3(KCNH2):c.173A>C (p.Glu58Ala) http://identifiers.org/clinvar/67257 ^@ NM_000238.3(KCNH2):c.173A>G (p.Glu58Gly) http://identifiers.org/clinvar/67258 ^@ NM_000238.3(KCNH2):c.1745G>T (p.Arg582Leu) http://identifiers.org/clinvar/67259 ^@ NM_000238.3(KCNH2):c.1747A>G (p.Ile583Val) http://identifiers.org/clinvar/67260 ^@ NM_000238.3(KCNH2):c.174G>C (p.Glu58Asp) http://identifiers.org/clinvar/67261 ^@ NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) http://identifiers.org/clinvar/67262 ^@ NM_000238.3(KCNH2):c.1750G>C (p.Gly584Arg) http://identifiers.org/clinvar/67263 ^@ NM_000238.3(KCNH2):c.1750G>T (p.Gly584Cys) http://identifiers.org/clinvar/67264 ^@ NM_000238.3(KCNH2):c.1751G>T (p.Gly584Val) http://identifiers.org/clinvar/67265 ^@ NM_000238.3(KCNH2):c.1755G>T (p.Trp585Cys) http://identifiers.org/clinvar/67266 ^@ NM_000238.3(KCNH2):c.1762A>G (p.Asn588Asp) http://identifiers.org/clinvar/67267 ^@ NM_000238.3(KCNH2):c.1769G>T (p.Gly590Val) http://identifiers.org/clinvar/67268 ^@ NM_000238.3(KCNH2):c.1777A>G (p.Ile593Val) http://identifiers.org/clinvar/67269 ^@ NM_000238.3(KCNH2):c.1778T>A (p.Ile593Lys) http://identifiers.org/clinvar/67270 ^@ NM_000238.3(KCNH2):c.1778T>C (p.Ile593Thr) http://identifiers.org/clinvar/67271 ^@ NM_000238.3(KCNH2):c.1781G>A (p.Gly594Asp) http://identifiers.org/clinvar/67272 ^@ NM_000238.3(KCNH2):c.1783A>G (p.Lys595Glu) http://identifiers.org/clinvar/67273 ^@ NM_000238.3(KCNH2):c.1785A>T (p.Lys595Asn) http://identifiers.org/clinvar/67274 ^@ NM_000238.3(KCNH2):c.1787C>A (p.Pro596His) http://identifiers.org/clinvar/67275 ^@ NM_000238.3(KCNH2):c.1787C>G (p.Pro596Arg) http://identifiers.org/clinvar/67276 ^@ NM_000238.3(KCNH2):c.1787C>T (p.Pro596Leu) http://identifiers.org/clinvar/67277 ^@ NM_000238.3(KCNH2):c.1790A>G (p.Tyr597Cys) http://identifiers.org/clinvar/67278 ^@ NM_000238.3(KCNH2):c.1797C>A (p.Ser599Arg) http://identifiers.org/clinvar/67279 ^@ NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) http://identifiers.org/clinvar/67280 ^@ NM_000238.3(KCNH2):c.1801G>T (p.Gly601Cys) http://identifiers.org/clinvar/67281 ^@ NM_000238.3(KCNH2):c.1810G>A (p.Gly604Ser) http://identifiers.org/clinvar/67282 ^@ NM_000238.3(KCNH2):c.1811G>A (p.Gly604Asp) http://identifiers.org/clinvar/67283 ^@ NM_000238.3(KCNH2):c.1813C>T (p.Pro605Ser) http://identifiers.org/clinvar/67284 ^@ NM_000238.3(KCNH2):c.1814C>T (p.Pro605Leu) http://identifiers.org/clinvar/67285 ^@ NM_000238.3(KCNH2):c.1816T>C (p.Ser606Pro) http://identifiers.org/clinvar/67286 ^@ NM_000238.3(KCNH2):c.1825G>A (p.Asp609Asn) http://identifiers.org/clinvar/67287 ^@ NM_000238.3(KCNH2):c.1825G>C (p.Asp609His) http://identifiers.org/clinvar/67288 ^@ NM_000238.3(KCNH2):c.1825G>T (p.Asp609Tyr) http://identifiers.org/clinvar/67289 ^@ NM_000238.3(KCNH2):c.1826A>G (p.Asp609Gly) http://identifiers.org/clinvar/67290 ^@ NM_000238.3(KCNH2):c.1831T>G (p.Tyr611Asp) http://identifiers.org/clinvar/67291 ^@ NM_000238.3(KCNH2):c.1834G>T (p.Val612Leu) http://identifiers.org/clinvar/67292 ^@ NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) http://identifiers.org/clinvar/67293 ^@ NM_000238.3(KCNH2):c.1843C>G (p.Leu615Val) http://identifiers.org/clinvar/67294 ^@ NM_000238.3(KCNH2):c.1843C>T (p.Leu615Phe) http://identifiers.org/clinvar/67295 ^@ NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) http://identifiers.org/clinvar/67296 ^@ NM_000238.3(KCNH2):c.1853C>G (p.Thr618Ser) http://identifiers.org/clinvar/67297 ^@ NM_000238.3(KCNH2):c.1853C>T (p.Thr618Ile) http://identifiers.org/clinvar/67298 ^@ NM_000238.3(KCNH2):c.185G>A (p.Arg62Gln) http://identifiers.org/clinvar/67299 ^@ NM_000238.3(KCNH2):c.1862G>A (p.Ser621Asn) http://identifiers.org/clinvar/67300 ^@ NM_000238.3(KCNH2):c.1863C>G (p.Ser621Arg) http://identifiers.org/clinvar/67301 ^@ NM_000238.3(KCNH2):c.1864C>T (p.Leu622Phe) http://identifiers.org/clinvar/67302 ^@ NM_000238.3(KCNH2):c.1868C>T (p.Thr623Ile) http://identifiers.org/clinvar/67303 ^@ NM_000238.3(KCNH2):c.1874T>A (p.Val625Glu) http://identifiers.org/clinvar/67304 ^@ NM_000238.3(KCNH2):c.1876G>A (p.Gly626Ser) http://identifiers.org/clinvar/67305 ^@ NM_000238.3(KCNH2):c.1877G>A (p.Gly626Asp) http://identifiers.org/clinvar/67306 ^@ NM_000238.3(KCNH2):c.1877G>C (p.Gly626Ala) http://identifiers.org/clinvar/67307 ^@ NM_000238.3(KCNH2):c.1877G>T (p.Gly626Val) http://identifiers.org/clinvar/67308 ^@ NM_000238.3(KCNH2):c.1879T>A (p.Phe627Ile) http://identifiers.org/clinvar/67309 ^@ NM_000238.3(KCNH2):c.1879T>C (p.Phe627Leu) http://identifiers.org/clinvar/67310 ^@ NM_000238.3(KCNH2):c.1881C>G (p.Phe627Leu) http://identifiers.org/clinvar/67311 ^@ NM_000238.3(KCNH2):c.1883G>C (p.Gly628Ala) http://identifiers.org/clinvar/67312 ^@ NM_000238.3(KCNH2):c.1883G>T (p.Gly628Val) http://identifiers.org/clinvar/67313 ^@ NM_000238.3(KCNH2):c.1885A>G (p.Asn629Asp) http://identifiers.org/clinvar/67314 ^@ NM_000238.3(KCNH2):c.1886A>C (p.Asn629Thr) http://identifiers.org/clinvar/67315 ^@ NM_000238.3(KCNH2):c.1886A>G (p.Asn629Ser) http://identifiers.org/clinvar/67316 ^@ NM_000238.3(KCNH2):c.1886A>T (p.Asn629Ile) http://identifiers.org/clinvar/67317 ^@ NM_000238.3(KCNH2):c.1887C>A (p.Asn629Lys) http://identifiers.org/clinvar/67318 ^@ NM_000238.3(KCNH2):c.1888G>C (p.Val630Leu) http://identifiers.org/clinvar/67319 ^@ NM_000238.3(KCNH2):c.1889T>C (p.Val630Ala) http://identifiers.org/clinvar/67320 ^@ NM_000238.3(KCNH2):c.1891T>G (p.Ser631Ala) http://identifiers.org/clinvar/67321 ^@ NM_000238.3(KCNH2):c.1894C>T (p.Pro632Ser) http://identifiers.org/clinvar/67322 ^@ NM_000238.3(KCNH2):c.1897A>G (p.Asn633Asp) http://identifiers.org/clinvar/67323 ^@ NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) http://identifiers.org/clinvar/67324 ^@ NM_000238.3(KCNH2):c.1898A>T (p.Asn633Ile) http://identifiers.org/clinvar/67325 ^@ NM_000238.3(KCNH2):c.1901C>T (p.Thr634Ile) http://identifiers.org/clinvar/67326 ^@ NM_000238.3(KCNH2):c.1903A>G (p.Asn635Asp) http://identifiers.org/clinvar/67327 ^@ NM_000238.3(KCNH2):c.1904A>T (p.Asn635Ile) http://identifiers.org/clinvar/67328 ^@ NM_000238.3(KCNH2):c.1905C>G (p.Asn635Lys) http://identifiers.org/clinvar/67329 ^@ NM_000238.3(KCNH2):c.1909G>A (p.Glu637Lys) http://identifiers.org/clinvar/67330 ^@ NM_000238.3(KCNH2):c.1910A>G (p.Glu637Gly) http://identifiers.org/clinvar/67331 ^@ NM_000238.3(KCNH2):c.1911G>C (p.Glu637Asp) http://identifiers.org/clinvar/67332 ^@ NM_000238.3(KCNH2):c.1912A>G (p.Lys638Glu) http://identifiers.org/clinvar/67333 ^@ NM_000238.3(KCNH2):c.1914G>T (p.Lys638Asn) http://identifiers.org/clinvar/67334 ^@ NM_000238.3(KCNH2):c.1918T>G (p.Phe640Val) http://identifiers.org/clinvar/67335 ^@ NM_000238.3(KCNH2):c.191G>A (p.Cys64Tyr) http://identifiers.org/clinvar/67336 ^@ NM_000238.3(KCNH2):c.1920C>A (p.Phe640Leu) http://identifiers.org/clinvar/67337 ^@ NM_000238.3(KCNH2):c.1922C>T (p.Ser641Phe) http://identifiers.org/clinvar/67338 ^@ NM_000238.3(KCNH2):c.192C>G (p.Cys64Trp) http://identifiers.org/clinvar/67339 ^@ NM_000238.3(KCNH2):c.1930G>C (p.Val644Leu) http://identifiers.org/clinvar/67340 ^@ NM_000238.3(KCNH2):c.1930G>T (p.Val644Phe) http://identifiers.org/clinvar/67341 ^@ NM_000238.3(KCNH2):c.1933A>G (p.Met645Val) http://identifiers.org/clinvar/67342 ^@ NM_000238.3(KCNH2):c.1933A>T (p.Met645Leu) http://identifiers.org/clinvar/67343 ^@ NM_000238.3(KCNH2):c.1935G>A (p.Met645Ile) http://identifiers.org/clinvar/67344 ^@ NM_000238.3(KCNH2):c.1942G>A (p.Gly648Ser) http://identifiers.org/clinvar/67345 ^@ NM_000238.3(KCNH2):c.1945T>C (p.Ser649Pro) http://identifiers.org/clinvar/67346 ^@ NM_000238.3(KCNH2):c.1946C>T (p.Ser649Phe) http://identifiers.org/clinvar/67347 ^@ NM_000238.3(KCNH2):c.1967T>G (p.Phe656Cys) http://identifiers.org/clinvar/67348 ^@ NM_000238.3(KCNH2):c.1969G>A (p.Gly657Ser) http://identifiers.org/clinvar/67349 ^@ NM_000238.3(KCNH2):c.1969G>C (p.Gly657Arg) http://identifiers.org/clinvar/67350 ^@ NM_000238.3(KCNH2):c.1969G>T (p.Gly657Cys) http://identifiers.org/clinvar/67351 ^@ NM_000238.3(KCNH2):c.196T>G (p.Cys66Gly) http://identifiers.org/clinvar/67352 ^@ NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) http://identifiers.org/clinvar/67353 ^@ NM_000238.3(KCNH2):c.1985T>C (p.Ile662Thr) http://identifiers.org/clinvar/67354 ^@ NM_000238.3(KCNH2):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/67355 ^@ NM_000238.3(KCNH2):c.202T>C (p.Phe68Leu) http://identifiers.org/clinvar/67356 ^@ NM_000238.3(KCNH2):c.2033T>C (p.Leu678Pro) http://identifiers.org/clinvar/67357 ^@ NM_000238.3(KCNH2):c.2059C>T (p.His687Tyr) http://identifiers.org/clinvar/67358 ^@ NM_000238.3(KCNH2):c.206T>C (p.Leu69Pro) http://identifiers.org/clinvar/67359 ^@ NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) http://identifiers.org/clinvar/67360 ^@ NM_000238.3(KCNH2):c.2086C>T (p.Arg696Cys) http://identifiers.org/clinvar/67361 ^@ NM_000238.3(KCNH2):c.2087G>C (p.Arg696Pro) http://identifiers.org/clinvar/67362 ^@ NM_000238.3(KCNH2):c.208C>A (p.His70Asn) http://identifiers.org/clinvar/67363 ^@ NM_000238.3(KCNH2):c.209A>G (p.His70Arg) http://identifiers.org/clinvar/67364 ^@ NM_000238.3(KCNH2):c.2117C>G (p.Ser706Cys) http://identifiers.org/clinvar/67365 ^@ NM_000238.3(KCNH2):c.2117C>T (p.Ser706Phe) http://identifiers.org/clinvar/67366 ^@ NM_000238.3(KCNH2):c.211G>C (p.Gly71Arg) http://identifiers.org/clinvar/67367 ^@ NM_000238.3(KCNH2):c.2131A>G (p.Ile711Val) http://identifiers.org/clinvar/67368 ^@ NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) http://identifiers.org/clinvar/67369 ^@ NM_000238.3(KCNH2):c.215C>G (p.Pro72Arg) http://identifiers.org/clinvar/67370 ^@ NM_000238.3(KCNH2):c.215C>T (p.Pro72Leu) http://identifiers.org/clinvar/67371 ^@ NM_000238.3(KCNH2):c.2162C>T (p.Pro721Leu) http://identifiers.org/clinvar/67372 ^@ NM_000238.3(KCNH2):c.2167T>C (p.Cys723Arg) http://identifiers.org/clinvar/67373 ^@ NM_000238.3(KCNH2):c.2182A>T (p.Ile728Phe) http://identifiers.org/clinvar/67374 ^@ NM_000238.3(KCNH2):c.2204C>T (p.Ser735Leu) http://identifiers.org/clinvar/67375 ^@ NM_000238.3(KCNH2):c.220A>C (p.Thr74Pro) http://identifiers.org/clinvar/67376 ^@ NM_000238.3(KCNH2):c.221C>G (p.Thr74Arg) http://identifiers.org/clinvar/67377 ^@ NM_000238.3(KCNH2):c.221C>T (p.Thr74Met) http://identifiers.org/clinvar/67378 ^@ NM_000238.3(KCNH2):c.2246G>T (p.Gly749Val) http://identifiers.org/clinvar/67379 ^@ NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) http://identifiers.org/clinvar/67380 ^@ NM_000238.3(KCNH2):c.2257G>T (p.Ala753Ser) http://identifiers.org/clinvar/67381 ^@ NM_000238.3(KCNH2):c.2266A>G (p.Met756Val) http://identifiers.org/clinvar/67382 ^@ NM_000238.3(KCNH2):c.2271G>C (p.Lys757Asn) http://identifiers.org/clinvar/67383 ^@ NM_000238.3(KCNH2):c.2299G>T (p.Asp767Tyr) http://identifiers.org/clinvar/67384 ^@ NM_000238.3(KCNH2):c.2309T>C (p.Val770Ala) http://identifiers.org/clinvar/67385 ^@ NM_000238.3(KCNH2):c.2320G>T (p.Asp774Tyr) http://identifiers.org/clinvar/67386 ^@ NM_000238.3(KCNH2):c.232G>C (p.Ala78Pro) http://identifiers.org/clinvar/67387 ^@ NM_000238.3(KCNH2):c.2354G>C (p.Gly785Ala) http://identifiers.org/clinvar/67388 ^@ NM_000238.3(KCNH2):c.2354G>T (p.Gly785Val) http://identifiers.org/clinvar/67389 ^@ NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys) http://identifiers.org/clinvar/67390 ^@ NM_000238.3(KCNH2):c.2364G>C (p.Glu788Asp) http://identifiers.org/clinvar/67391 ^@ NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp) http://identifiers.org/clinvar/67392 ^@ NM_000238.3(KCNH2):c.238G>C (p.Ala80Pro) http://identifiers.org/clinvar/67393 ^@ NM_000238.3(KCNH2):c.2398G>T (p.Gly800Trp) http://identifiers.org/clinvar/67394 ^@ NM_000238.3(KCNH2):c.2399G>A (p.Gly800Glu) http://identifiers.org/clinvar/67395 ^@ NM_000238.3(KCNH2):c.239C>T (p.Ala80Val) http://identifiers.org/clinvar/67396 ^@ NM_000238.3(KCNH2):c.2414T>C (p.Phe805Ser) http://identifiers.org/clinvar/67397 ^@ NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) http://identifiers.org/clinvar/67398 ^@ NM_000238.3(KCNH2):c.2417G>A (p.Gly806Glu) http://identifiers.org/clinvar/67399 ^@ NM_000238.3(KCNH2):c.243G>C (p.Gln81His) http://identifiers.org/clinvar/67400 ^@ NM_000238.3(KCNH2):c.2452T>C (p.Ser818Pro) http://identifiers.org/clinvar/67401 ^@ NM_000238.3(KCNH2):c.2458G>A (p.Gly820Arg) http://identifiers.org/clinvar/67402 ^@ NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) http://identifiers.org/clinvar/67403 ^@ NM_000238.3(KCNH2):c.2477C>T (p.Thr826Ile) http://identifiers.org/clinvar/67404 ^@ NM_000238.3(KCNH2):c.2503C>T (p.Arg835Trp) http://identifiers.org/clinvar/67405 ^@ NM_000238.3(KCNH2):c.2509G>A (p.Asp837Asn) http://identifiers.org/clinvar/67406 ^@ NM_000238.3(KCNH2):c.2509G>T (p.Asp837Tyr) http://identifiers.org/clinvar/67407 ^@ NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) http://identifiers.org/clinvar/67408 ^@ NM_000238.3(KCNH2):c.2536C>A (p.Pro846Thr) http://identifiers.org/clinvar/67409 ^@ NM_000238.3(KCNH2):c.2536C>T (p.Pro846Ser) http://identifiers.org/clinvar/67410 ^@ NM_000238.3(KCNH2):c.253G>C (p.Ala85Pro) http://identifiers.org/clinvar/67411 ^@ NM_000238.3(KCNH2):c.254C>T (p.Ala85Val) http://identifiers.org/clinvar/67412 ^@ NM_000238.3(KCNH2):c.2573T>C (p.Ile858Thr) http://identifiers.org/clinvar/67413 ^@ NM_000238.3(KCNH2):c.257T>C (p.Leu86Pro) http://identifiers.org/clinvar/67414 ^@ NM_000238.3(KCNH2):c.257T>G (p.Leu86Arg) http://identifiers.org/clinvar/67415 ^@ NM_000238.3(KCNH2):c.2581A>C (p.Asn861His) http://identifiers.org/clinvar/67416 ^@ NM_000238.3(KCNH2):c.2582A>C (p.Asn861Thr) http://identifiers.org/clinvar/67417 ^@ NM_000238.3(KCNH2):c.2591A>G (p.Asp864Gly) http://identifiers.org/clinvar/67418 ^@ NM_000238.3(KCNH2):c.260T>C (p.Leu87Pro) http://identifiers.org/clinvar/67419 ^@ NM_000238.3(KCNH2):c.2617G>A (p.Gly873Ser) http://identifiers.org/clinvar/67420 ^@ NM_000238.3(KCNH2):c.2624C>T (p.Thr875Met) http://identifiers.org/clinvar/67421 ^@ NM_000238.3(KCNH2):c.2635G>C (p.Gly879Arg) http://identifiers.org/clinvar/67422 ^@ NM_000238.3(KCNH2):c.2653C>T (p.Arg885Cys) http://identifiers.org/clinvar/67423 ^@ NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) http://identifiers.org/clinvar/67424 ^@ NM_000238.3(KCNH2):c.2680C>T (p.Arg894Cys) http://identifiers.org/clinvar/67425 ^@ NM_000238.3(KCNH2):c.2681G>T (p.Arg894Leu) http://identifiers.org/clinvar/67426 ^@ NM_000238.3(KCNH2):c.2684C>T (p.Thr895Met) http://identifiers.org/clinvar/67427 ^@ NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) http://identifiers.org/clinvar/67428 ^@ NM_000238.3(KCNH2):c.2707G>A (p.Gly903Arg) http://identifiers.org/clinvar/67429 ^@ NM_000238.3(KCNH2):c.2717C>T (p.Ser906Leu) http://identifiers.org/clinvar/67430 ^@ NM_000238.3(KCNH2):c.2729C>T (p.Pro910Leu) http://identifiers.org/clinvar/67431 ^@ NM_000238.3(KCNH2):c.2744C>T (p.Ala915Val) http://identifiers.org/clinvar/67432 ^@ NM_000238.3(KCNH2):c.2750C>T (p.Pro917Leu) http://identifiers.org/clinvar/67433 ^@ NM_000238.3(KCNH2):c.2758C>T (p.Arg920Trp) http://identifiers.org/clinvar/67434 ^@ NM_000238.3(KCNH2):c.2759G>A (p.Arg920Gln) http://identifiers.org/clinvar/67435 ^@ NM_000238.3(KCNH2):c.2764C>T (p.Arg922Trp) http://identifiers.org/clinvar/67436 ^@ NM_000238.3(KCNH2):c.2765G>A (p.Arg922Gln) http://identifiers.org/clinvar/67437 ^@ NM_000238.3(KCNH2):c.2771G>A (p.Gly924Glu) http://identifiers.org/clinvar/67438 ^@ NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala) http://identifiers.org/clinvar/67439 ^@ NM_000238.3(KCNH2):c.2773G>A (p.Gly925Arg) http://identifiers.org/clinvar/67440 ^@ NM_000238.3(KCNH2):c.2810G>A (p.Ser937Asn) http://identifiers.org/clinvar/67441 ^@ NM_000238.3(KCNH2):c.281T>G (p.Val94Gly) http://identifiers.org/clinvar/67442 ^@ NM_000238.3(KCNH2):c.2842C>A (p.Arg948Ser) http://identifiers.org/clinvar/67443 ^@ NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) http://identifiers.org/clinvar/67444 ^@ NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) http://identifiers.org/clinvar/67445 ^@ NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) http://identifiers.org/clinvar/67446 ^@ NM_000238.3(KCNH2):c.286A>G (p.Ile96Val) http://identifiers.org/clinvar/67447 ^@ NM_000238.3(KCNH2):c.2879G>A (p.Ser960Asn) http://identifiers.org/clinvar/67448 ^@ NM_000238.3(KCNH2):c.287T>C (p.Ile96Thr) http://identifiers.org/clinvar/67449 ^@ NM_000238.3(KCNH2):c.2887C>A (p.Pro963Thr) http://identifiers.org/clinvar/67450 ^@ NM_000238.3(KCNH2):c.2893G>A (p.Gly965Arg) http://identifiers.org/clinvar/67451 ^@ NM_000238.3(KCNH2):c.2900C>T (p.Pro967Leu) http://identifiers.org/clinvar/67452 ^@ NM_000238.3(KCNH2):c.2903C>T (p.Pro968Leu) http://identifiers.org/clinvar/67453 ^@ NM_000238.3(KCNH2):c.2932G>A (p.Glu978Lys) http://identifiers.org/clinvar/67454 ^@ NM_000238.3(KCNH2):c.2941A>G (p.Ser981Gly) http://identifiers.org/clinvar/67455 ^@ NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) http://identifiers.org/clinvar/67456 ^@ NM_000238.3(KCNH2):c.2954A>G (p.Asn985Ser) http://identifiers.org/clinvar/67457 ^@ NM_000238.3(KCNH2):c.296A>C (p.Tyr99Ser) http://identifiers.org/clinvar/67458 ^@ NM_000238.3(KCNH2):c.2987A>T (p.Asn996Ile) http://identifiers.org/clinvar/67459 ^@ NM_000238.3(KCNH2):c.298C>T (p.Arg100Trp) http://identifiers.org/clinvar/67460 ^@ NM_000238.3(KCNH2):c.299G>A (p.Arg100Gln) http://identifiers.org/clinvar/67461 ^@ NM_000238.3(KCNH2):c.3014G>A (p.Arg1005Gln) http://identifiers.org/clinvar/67462 ^@ NM_000238.3(KCNH2):c.301A>G (p.Lys101Glu) http://identifiers.org/clinvar/67463 ^@ NM_000238.3(KCNH2):c.3020G>A (p.Arg1007His) http://identifiers.org/clinvar/67464 ^@ NM_000238.3(KCNH2):c.305A>C (p.Asp102Ala) http://identifiers.org/clinvar/67465 ^@ NM_000238.3(KCNH2):c.305A>T (p.Asp102Val) http://identifiers.org/clinvar/67466 ^@ NM_000238.3(KCNH2):c.3095G>A (p.Arg1032Gln) http://identifiers.org/clinvar/67467 ^@ NM_000238.3(KCNH2):c.3097C>T (p.Arg1033Trp) http://identifiers.org/clinvar/67468 ^@ NM_000238.3(KCNH2):c.3103C>T (p.Arg1035Trp) http://identifiers.org/clinvar/67469 ^@ NM_000238.3(KCNH2):c.3107G>A (p.Gly1036Asp) http://identifiers.org/clinvar/67470 ^@ NM_000238.3(KCNH2):c.3109G>A (p.Asp1037Asn) http://identifiers.org/clinvar/67471 ^@ NM_000238.3(KCNH2):c.3112G>A (p.Val1038Met) http://identifiers.org/clinvar/67472 ^@ NM_000238.3(KCNH2):c.3118A>G (p.Ser1040Gly) http://identifiers.org/clinvar/67473 ^@ NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) http://identifiers.org/clinvar/67474 ^@ NM_000238.3(KCNH2):c.3146T>C (p.Leu1049Pro) http://identifiers.org/clinvar/67475 ^@ NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) http://identifiers.org/clinvar/67476 ^@ NM_000238.3(KCNH2):c.3173C>A (p.Ala1058Glu) http://identifiers.org/clinvar/67477 ^@ NM_000238.3(KCNH2):c.317T>A (p.Phe106Tyr) http://identifiers.org/clinvar/67478 ^@ NM_000238.3(KCNH2):c.318C>A (p.Phe106Leu) http://identifiers.org/clinvar/67479 ^@ NM_000238.3(KCNH2):c.3196C>G (p.Leu1066Val) http://identifiers.org/clinvar/67480 ^@ NM_000238.3(KCNH2):c.3203A>G (p.Gln1068Arg) http://identifiers.org/clinvar/67481 ^@ NM_000238.3(KCNH2):c.3224C>T (p.Pro1075Leu) http://identifiers.org/clinvar/67482 ^@ NM_000238.3(KCNH2):c.322T>C (p.Cys108Arg) http://identifiers.org/clinvar/67483 ^@ NM_000238.3(KCNH2):c.3233A>G (p.Tyr1078Cys) http://identifiers.org/clinvar/67484 ^@ NM_000238.3(KCNH2):c.326T>G (p.Leu109Arg) http://identifiers.org/clinvar/67485 ^@ NM_000238.3(KCNH2):c.3278C>T (p.Pro1093Leu) http://identifiers.org/clinvar/67486 ^@ NM_000238.3(KCNH2):c.3289G>A (p.Val1097Ile) http://identifiers.org/clinvar/67487 ^@ NM_000238.3(KCNH2):c.3302C>T (p.Pro1101Leu) http://identifiers.org/clinvar/67488 ^@ NM_000238.3(KCNH2):c.3322C>G (p.Leu1108Val) http://identifiers.org/clinvar/67489 ^@ NM_000238.3(KCNH2):c.332A>T (p.Asp111Val) http://identifiers.org/clinvar/67490 ^@ NM_000238.3(KCNH2):c.3343A>G (p.Met1115Val) http://identifiers.org/clinvar/67491 ^@ NM_000238.3(KCNH2):c.3347C>T (p.Ala1116Val) http://identifiers.org/clinvar/67492 ^@ NM_000238.3(KCNH2):c.3355G>C (p.Glu1119Gln) http://identifiers.org/clinvar/67493 ^@ NM_000238.3(KCNH2):c.3404G>A (p.Arg1135His) http://identifiers.org/clinvar/67494 ^@ NM_000238.3(KCNH2):c.340C>T (p.Pro114Ser) http://identifiers.org/clinvar/67495 ^@ NM_000238.3(KCNH2):c.3430G>A (p.Ala1144Thr) http://identifiers.org/clinvar/67496 ^@ NM_000238.3(KCNH2):c.343G>A (p.Val115Met) http://identifiers.org/clinvar/67497 ^@ NM_000238.3(KCNH2):c.3457C>T (p.His1153Tyr) http://identifiers.org/clinvar/67498 ^@ NM_000238.3(KCNH2):c.3460G>A (p.Gly1154Ser) http://identifiers.org/clinvar/67499 ^@ NM_000238.3(KCNH2):c.3470C>T (p.Pro1157Leu) http://identifiers.org/clinvar/67500 ^@ NM_000238.3(KCNH2):c.371T>C (p.Met124Thr) http://identifiers.org/clinvar/67501 ^@ NM_000238.3(KCNH2):c.371T>G (p.Met124Arg) http://identifiers.org/clinvar/67502 ^@ NM_000238.3(KCNH2):c.374T>G (p.Phe125Cys) http://identifiers.org/clinvar/67503 ^@ NM_000238.3(KCNH2):c.388G>A (p.Glu130Lys) http://identifiers.org/clinvar/67504 ^@ NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) http://identifiers.org/clinvar/67505 ^@ NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) http://identifiers.org/clinvar/67506 ^@ NM_000238.3(KCNH2):c.446G>C (p.Gly149Ala) http://identifiers.org/clinvar/67507 ^@ NM_000238.3(KCNH2):c.47A>C (p.Asp16Ala) http://identifiers.org/clinvar/67508 ^@ NM_000238.3(KCNH2):c.491G>A (p.Arg164His) http://identifiers.org/clinvar/67509 ^@ NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) http://identifiers.org/clinvar/67510 ^@ NM_000238.3(KCNH2):c.542G>A (p.Arg181Gln) http://identifiers.org/clinvar/67511 ^@ NM_000238.3(KCNH2):c.559G>A (p.Gly187Ser) http://identifiers.org/clinvar/67512 ^@ NM_000238.3(KCNH2):c.568G>A (p.Ala190Thr) http://identifiers.org/clinvar/67513 ^@ NM_000238.3(KCNH2):c.58C>G (p.Arg20Gly) http://identifiers.org/clinvar/67514 ^@ NM_000238.3(KCNH2):c.607G>A (p.Ala203Thr) http://identifiers.org/clinvar/67515 ^@ NM_000238.3(KCNH2):c.644T>G (p.Val215Gly) http://identifiers.org/clinvar/67516 ^@ NM_000238.3(KCNH2):c.652A>G (p.Met218Val) http://identifiers.org/clinvar/67517 ^@ NM_000238.3(KCNH2):c.65T>C (p.Phe22Ser) http://identifiers.org/clinvar/67518 ^@ NM_000238.3(KCNH2):c.707G>T (p.Gly236Val) http://identifiers.org/clinvar/67519 ^@ NM_000238.3(KCNH2):c.712G>A (p.Gly238Ser) http://identifiers.org/clinvar/67520 ^@ NM_000238.3(KCNH2):c.722C>T (p.Pro241Leu) http://identifiers.org/clinvar/67521 ^@ NM_000238.3(KCNH2):c.724C>G (p.Arg242Gly) http://identifiers.org/clinvar/67522 ^@ NM_000238.3(KCNH2):c.751C>G (p.Pro251Ala) http://identifiers.org/clinvar/67523 ^@ NM_000238.3(KCNH2):c.751C>T (p.Pro251Ser) http://identifiers.org/clinvar/67524 ^@ NM_000238.3(KCNH2):c.754C>G (p.Arg252Gly) http://identifiers.org/clinvar/67525 ^@ NM_000238.3(KCNH2):c.762C>G (p.His254Gln) http://identifiers.org/clinvar/67526 ^@ NM_000238.3(KCNH2):c.769A>C (p.Asn257His) http://identifiers.org/clinvar/67527 ^@ NM_000238.3(KCNH2):c.775G>A (p.Asp259Asn) http://identifiers.org/clinvar/67528 ^@ NM_000238.3(KCNH2):c.77G>T (p.Ser26Ile) http://identifiers.org/clinvar/67529 ^@ NM_000238.3(KCNH2):c.805C>T (p.Arg269Trp) http://identifiers.org/clinvar/67530 ^@ NM_000238.3(KCNH2):c.80G>C (p.Arg27Pro) http://identifiers.org/clinvar/67531 ^@ NM_000238.3(KCNH2):c.818G>A (p.Arg273Gln) http://identifiers.org/clinvar/67532 ^@ NM_000238.3(KCNH2):c.82A>G (p.Lys28Glu) http://identifiers.org/clinvar/67533 ^@ NM_000238.3(KCNH2):c.830C>A (p.Ala277Asp) http://identifiers.org/clinvar/67534 ^@ NM_000238.3(KCNH2):c.835G>A (p.Val279Met) http://identifiers.org/clinvar/67535 ^@ NM_000238.3(KCNH2):c.865G>A (p.Glu289Lys) http://identifiers.org/clinvar/67536 ^@ NM_000238.3(KCNH2):c.86T>C (p.Phe29Ser) http://identifiers.org/clinvar/67537 ^@ NM_000238.3(KCNH2):c.872T>C (p.Met291Thr) http://identifiers.org/clinvar/67538 ^@ NM_000238.3(KCNH2):c.87C>A (p.Phe29Leu) http://identifiers.org/clinvar/67539 ^@ NM_000238.3(KCNH2):c.881G>T (p.Gly294Val) http://identifiers.org/clinvar/67540 ^@ NM_000238.3(KCNH2):c.889C>T (p.Pro297Ser) http://identifiers.org/clinvar/67541 ^@ NM_000238.3(KCNH2):c.89T>C (p.Ile30Thr) http://identifiers.org/clinvar/67542 ^@ NM_000238.3(KCNH2):c.902G>T (p.Arg301Leu) http://identifiers.org/clinvar/67543 ^@ NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) http://identifiers.org/clinvar/67544 ^@ NM_000238.3(KCNH2):c.916G>T (p.Gly306Trp) http://identifiers.org/clinvar/67545 ^@ NM_000238.3(KCNH2):c.92T>C (p.Ile31Thr) http://identifiers.org/clinvar/67546 ^@ NM_000238.3(KCNH2):c.92T>G (p.Ile31Ser) http://identifiers.org/clinvar/67547 ^@ NM_000238.3(KCNH2):c.934C>T (p.Arg312Cys) http://identifiers.org/clinvar/67548 ^@ NM_000238.3(KCNH2):c.940G>A (p.Gly314Ser) http://identifiers.org/clinvar/67549 ^@ NM_000238.3(KCNH2):c.94G>A (p.Ala32Thr) http://identifiers.org/clinvar/67550 ^@ NM_000238.3(KCNH2):c.959C>T (p.Ser320Leu) http://identifiers.org/clinvar/67551 ^@ NM_000238.3(KCNH2):c.967G>A (p.Asp323Asn) http://identifiers.org/clinvar/67552 ^@ NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) http://identifiers.org/clinvar/67553 ^@ NM_000238.3(KCNH2):c.98A>C (p.Asn33Thr) http://identifiers.org/clinvar/67554 ^@ NM_000719.6(CACNA1C):c.3343G>A (p.Glu1115Lys) http://identifiers.org/clinvar/67555 ^@ NM_000719.6(CACNA1C):c.5639G>A (p.Arg1880Gln) http://identifiers.org/clinvar/67556 ^@ NM_000719.6(CACNA1C):c.6040G>A (p.Val2014Ile) http://identifiers.org/clinvar/67557 ^@ NM_000719.6(CACNA1C):c.6388G>A (p.Asp2130Asn) http://identifiers.org/clinvar/67558 ^@ NM_000891.2(KCNJ2):c.1051C>T (p.Pro351Ser) http://identifiers.org/clinvar/67559 ^@ NM_000891.2(KCNJ2):c.1265G>T (p.Arg422Leu) http://identifiers.org/clinvar/67560 ^@ NM_000891.2(KCNJ2):c.200G>A (p.Arg67Gln) http://identifiers.org/clinvar/67561 ^@ NM_000891.2(KCNJ2):c.202T>G (p.Tyr68Asp) http://identifiers.org/clinvar/67562 ^@ NM_000891.2(KCNJ2):c.211G>A (p.Asp71Asn) http://identifiers.org/clinvar/67563 ^@ NM_000891.2(KCNJ2):c.220A>G (p.Thr74Ala) http://identifiers.org/clinvar/67564 ^@ NM_000891.2(KCNJ2):c.223A>G (p.Thr75Ala) http://identifiers.org/clinvar/67565 ^@ NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met) http://identifiers.org/clinvar/67566 ^@ NM_000891.2(KCNJ2):c.232G>T (p.Asp78Tyr) http://identifiers.org/clinvar/67567 ^@ NM_000891.2(KCNJ2):c.233A>G (p.Asp78Gly) http://identifiers.org/clinvar/67568 ^@ NM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp) http://identifiers.org/clinvar/67569 ^@ NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/67570 ^@ NM_000891.2(KCNJ2):c.301T>C (p.Cys101Arg) http://identifiers.org/clinvar/67571 ^@ NM_000891.2(KCNJ2):c.368T>G (p.Val123Gly) http://identifiers.org/clinvar/67572 ^@ NM_000891.2(KCNJ2):c.407C>T (p.Ser136Phe) http://identifiers.org/clinvar/67573 ^@ NM_000891.2(KCNJ2):c.430G>A (p.Gly144Ser) http://identifiers.org/clinvar/67574 ^@ NM_000891.2(KCNJ2):c.431G>A (p.Gly144Asp) http://identifiers.org/clinvar/67575 ^@ NM_000891.2(KCNJ2):c.431G>C (p.Gly144Ala) http://identifiers.org/clinvar/67576 ^@ NM_000891.2(KCNJ2):c.436G>A (p.Gly146Ser) http://identifiers.org/clinvar/67577 ^@ NM_000891.2(KCNJ2):c.437G>A (p.Gly146Asp) http://identifiers.org/clinvar/67578 ^@ NM_000891.2(KCNJ2):c.437G>C (p.Gly146Ala) http://identifiers.org/clinvar/67579 ^@ NM_000891.2(KCNJ2):c.461G>T (p.Cys154Phe) http://identifiers.org/clinvar/67580 ^@ NM_000891.2(KCNJ2):c.566G>T (p.Arg189Ile) http://identifiers.org/clinvar/67581 ^@ NM_000891.2(KCNJ2):c.574A>G (p.Thr192Ala) http://identifiers.org/clinvar/67582 ^@ NM_000891.2(KCNJ2):c.575C>T (p.Thr192Ile) http://identifiers.org/clinvar/67583 ^@ NM_000891.2(KCNJ2):c.644G>A (p.Gly215Asp) http://identifiers.org/clinvar/67584 ^@ NM_000891.2(KCNJ2):c.650T>C (p.Leu217Pro) http://identifiers.org/clinvar/67585 ^@ NM_000891.2(KCNJ2):c.653G>A (p.Arg218Gln) http://identifiers.org/clinvar/67586 ^@ NM_000891.2(KCNJ2):c.679G>T (p.Val227Phe) http://identifiers.org/clinvar/67587 ^@ NM_000891.2(KCNJ2):c.779G>C (p.Arg260Pro) http://identifiers.org/clinvar/67588 ^@ NM_000891.2(KCNJ2):c.899G>A (p.Gly300Asp) http://identifiers.org/clinvar/67589 ^@ NM_000891.2(KCNJ2):c.899G>C (p.Gly300Ala) http://identifiers.org/clinvar/67590 ^@ NM_000891.2(KCNJ2):c.907G>A (p.Glu303Lys) http://identifiers.org/clinvar/67591 ^@ NM_000891.2(KCNJ2):c.913A>G (p.Thr305Ala) http://identifiers.org/clinvar/67592 ^@ NM_000891.2(KCNJ2):c.921G>A (p.Met307Ile) http://identifiers.org/clinvar/67593 ^@ NM_000891.2(KCNJ2):c.926C>T (p.Thr309Ile) http://identifiers.org/clinvar/67594 ^@ NM_000891.2(KCNJ2):c.934C>T (p.Arg312Cys) http://identifiers.org/clinvar/67595 ^@ NM_001148.4(ANK2):c.10708G>A (p.Glu3570Lys) http://identifiers.org/clinvar/67596 ^@ NM_001148.4(ANK2):c.10858T>A (p.Trp3620Arg) http://identifiers.org/clinvar/67597 ^@ NM_001148.4(ANK2):c.10861C>G (p.Leu3621Val) http://identifiers.org/clinvar/67598 ^@ NM_001127493.1(ANK2):c.4618G>A (p.Val1540Ile) http://identifiers.org/clinvar/67599 ^@ NM_001148.4(ANK2):c.10901T>A (p.Val3634Asp) http://identifiers.org/clinvar/67600 ^@ NM_001127493.1(ANK2):c.4804G>A (p.Glu1602Lys) http://identifiers.org/clinvar/67601 ^@ NM_001127493.1(ANK2):c.5234G>C (p.Ser1745Thr) http://identifiers.org/clinvar/67602 ^@ NM_001127493.1(ANK2):c.5249C>A (p.Thr1750Asn) http://identifiers.org/clinvar/67603 ^@ NM_001148.4(ANK2):c.11683G>A (p.Val3895Met) http://identifiers.org/clinvar/67604 ^@ NM_001127493.1(ANK2):c.1360G>A (p.Gly454Arg) http://identifiers.org/clinvar/67605 ^@ NM_001127493.1(ANK2):c.2059G>A (p.Val687Met) http://identifiers.org/clinvar/67606 ^@ NM_001148.4(ANK2):c.4315G>T (p.Gly1439Cys) http://identifiers.org/clinvar/67607 ^@ NM_001148.4(ANK2):c.4963C>A (p.Leu1655Met) http://identifiers.org/clinvar/67608 ^@ NM_001148.4(ANK2):c.5470T>C (p.Ser1824Pro) http://identifiers.org/clinvar/67609 ^@ NM_001148.4(ANK2):c.7205T>C (p.Val2402Ala) http://identifiers.org/clinvar/67610 ^@ NM_172201.1(KCNE2):c.166A>G (p.Met56Val) http://identifiers.org/clinvar/67611 ^@ NM_172201.1(KCNE2):c.193G>A (p.Val65Met) http://identifiers.org/clinvar/67612 ^@ NM_172201.1(KCNE2):c.193G>C (p.Val65Leu) http://identifiers.org/clinvar/67613 ^@ NM_172201.1(KCNE2):c.197C>T (p.Ala66Val) http://identifiers.org/clinvar/67614 ^@ NM_172201.1(KCNE2):c.229C>T (p.Arg77Trp) http://identifiers.org/clinvar/67615 ^@ NM_172201.1(KCNE2):c.22A>G (p.Thr8Ala) http://identifiers.org/clinvar/67616 ^@ NM_172201.1(KCNE2):c.230G>A (p.Arg77Gln) http://identifiers.org/clinvar/67617 ^@ NM_172201.1(KCNE2):c.269A>G (p.Glu90Gly) http://identifiers.org/clinvar/67618 ^@ NM_172201.1(KCNE2):c.281A>G (p.Glu94Gly) http://identifiers.org/clinvar/67619 ^@ NM_172201.1(KCNE2):c.29C>T (p.Thr10Met) http://identifiers.org/clinvar/67620 ^@ NM_172201.1(KCNE2):c.347C>T (p.Ala116Val) http://identifiers.org/clinvar/67621 ^@ NM_172201.1(KCNE2):c.40G>A (p.Val14Ile) http://identifiers.org/clinvar/67622 ^@ NM_172201.1(KCNE2):c.59T>A (p.Ile20Asn) http://identifiers.org/clinvar/67623 ^@ NM_172201.1(KCNE2):c.80G>A (p.Arg27His) http://identifiers.org/clinvar/67624 ^@ NM_198056.2(SCN5A):c.1007C>T (p.Pro336Leu) http://identifiers.org/clinvar/67625 ^@ NM_000335.4(SCN5A):c.1018C>T (p.Arg340Trp) http://identifiers.org/clinvar/67626 ^@ NM_198056.2(SCN5A):c.1019G>A (p.Arg340Gln) http://identifiers.org/clinvar/67627 ^@ NM_000335.4(SCN5A):c.101G>A (p.Arg34His) http://identifiers.org/clinvar/67628 ^@ NM_198056.2(SCN5A):c.103G>A (p.Gly35Ser) http://identifiers.org/clinvar/67629 ^@ NM_000335.4(SCN5A):c.1052G>A (p.Gly351Asp) http://identifiers.org/clinvar/67630 ^@ NM_000335.4(SCN5A):c.1052G>T (p.Gly351Val) http://identifiers.org/clinvar/67631 ^@ NM_000335.4(SCN5A):c.1058C>T (p.Thr353Ile) http://identifiers.org/clinvar/67632 ^@ NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) http://identifiers.org/clinvar/67633 ^@ NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) http://identifiers.org/clinvar/67634 ^@ NM_000335.4(SCN5A):c.1100G>T (p.Arg367Leu) http://identifiers.org/clinvar/67635 ^@ NM_000335.4(SCN5A):c.1106T>A (p.Met369Lys) http://identifiers.org/clinvar/67636 ^@ NM_198056.2(SCN5A):c.1109C>T (p.Thr370Met) http://identifiers.org/clinvar/67637 ^@ NM_000335.4(SCN5A):c.1120T>G (p.Trp374Gly) http://identifiers.org/clinvar/67638 ^@ NM_198056.2(SCN5A):c.1126C>T (p.Arg376Cys) http://identifiers.org/clinvar/67639 ^@ NM_198056.2(SCN5A):c.1127G>A (p.Arg376His) http://identifiers.org/clinvar/67640 ^@ NM_000335.4(SCN5A):c.1156G>A (p.Gly386Arg) http://identifiers.org/clinvar/67641 ^@ NM_000335.4(SCN5A):c.1157G>A (p.Gly386Glu) http://identifiers.org/clinvar/67642 ^@ NM_000335.4(SCN5A):c.1186G>C (p.Val396Leu) http://identifiers.org/clinvar/67643 ^@ NM_000335.4(SCN5A):c.1187T>C (p.Val396Ala) http://identifiers.org/clinvar/67644 ^@ NM_000335.4(SCN5A):c.1190T>C (p.Ile397Thr) http://identifiers.org/clinvar/67645 ^@ NM_000335.4(SCN5A):c.1199G>C (p.Gly400Ala) http://identifiers.org/clinvar/67646 ^@ NM_000335.4(SCN5A):c.1211T>A (p.Leu404Gln) http://identifiers.org/clinvar/67647 ^@ NM_000335.4(SCN5A):c.1217A>G (p.Asn406Ser) http://identifiers.org/clinvar/67648 ^@ NM_198056.2(SCN5A):c.1218C>A (p.Asn406Lys) http://identifiers.org/clinvar/67649 ^@ NM_000335.4(SCN5A):c.1218C>G (p.Asn406Lys) http://identifiers.org/clinvar/67650 ^@ NM_000335.4(SCN5A):c.1225C>G (p.Leu409Val) http://identifiers.org/clinvar/67651 ^@ NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) http://identifiers.org/clinvar/67652 ^@ NM_000335.4(SCN5A):c.1237G>A (p.Ala413Thr) http://identifiers.org/clinvar/67653 ^@ NM_000335.4(SCN5A):c.1238C>A (p.Ala413Glu) http://identifiers.org/clinvar/67654 ^@ NM_000335.4(SCN5A):c.128G>A (p.Arg43Gln) http://identifiers.org/clinvar/67655 ^@ NM_000335.4(SCN5A):c.1315G>A (p.Glu439Lys) http://identifiers.org/clinvar/67656 ^@ NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) http://identifiers.org/clinvar/67657 ^@ NM_198056.2(SCN5A):c.1340C>G (p.Ala447Gly) http://identifiers.org/clinvar/67658 ^@ NM_000335.4(SCN5A):c.1345A>G (p.Thr449Ala) http://identifiers.org/clinvar/67659 ^@ NM_198056.2(SCN5A):c.1381T>G (p.Leu461Val) http://identifiers.org/clinvar/67660 ^@ NM_000335.4(SCN5A):c.1384G>A (p.Glu462Lys) http://identifiers.org/clinvar/67661 ^@ NM_198056.2(SCN5A):c.1385A>C (p.Glu462Ala) http://identifiers.org/clinvar/67662 ^@ NM_000335.4(SCN5A):c.1425A>C (p.Arg475Ser) http://identifiers.org/clinvar/67663 ^@ NM_198056.2(SCN5A):c.142G>A (p.Glu48Lys) http://identifiers.org/clinvar/67664 ^@ NM_000335.4(SCN5A):c.1502A>G (p.Asp501Gly) http://identifiers.org/clinvar/67666 ^@ NM_000335.4(SCN5A):c.154C>T (p.Pro52Ser) http://identifiers.org/clinvar/67667 ^@ NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) http://identifiers.org/clinvar/67668 ^@ NM_198056.2(SCN5A):c.1577G>A (p.Arg526His) http://identifiers.org/clinvar/67669 ^@ NM_000335.4(SCN5A):c.1588T>G (p.Phe530Val) http://identifiers.org/clinvar/67670 ^@ NM_000335.4(SCN5A):c.158G>A (p.Arg53Gln) http://identifiers.org/clinvar/67671 ^@ NM_198056.2(SCN5A):c.1595T>G (p.Phe532Cys) http://identifiers.org/clinvar/67672 ^@ NM_000335.4(SCN5A):c.1604G>A (p.Arg535Gln) http://identifiers.org/clinvar/67673 ^@ NM_000335.4(SCN5A):c.1629T>A (p.Phe543Leu) http://identifiers.org/clinvar/67674 ^@ NM_000335.4(SCN5A):c.1651G>A (p.Ala551Thr) http://identifiers.org/clinvar/67675 ^@ NM_000335.4(SCN5A):c.1654G>A (p.Gly552Arg) http://identifiers.org/clinvar/67676 ^@ NM_000335.4(SCN5A):c.1663G>A (p.Glu555Lys) http://identifiers.org/clinvar/67677 ^@ NM_000335.4(SCN5A):c.1676C>T (p.Thr559Ile) http://identifiers.org/clinvar/67678 ^@ NM_198056.2(SCN5A):c.1700T>A (p.Leu567Gln) http://identifiers.org/clinvar/67679 ^@ NM_000335.4(SCN5A):c.1703G>A (p.Arg568His) http://identifiers.org/clinvar/67680 ^@ NM_198056.2(SCN5A):c.1705C>T (p.Arg569Trp) http://identifiers.org/clinvar/67681 ^@ NM_000335.4(SCN5A):c.1712G>T (p.Ser571Ile) http://identifiers.org/clinvar/67682 ^@ NM_000335.4(SCN5A):c.1714G>T (p.Ala572Ser) http://identifiers.org/clinvar/67683 ^@ NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) http://identifiers.org/clinvar/67684 ^@ NM_000335.4(SCN5A):c.1715C>T (p.Ala572Val) http://identifiers.org/clinvar/67685 ^@ NM_000335.4(SCN5A):c.1717C>G (p.Gln573Glu) http://identifiers.org/clinvar/67686 ^@ NM_198056.2(SCN5A):c.1735G>A (p.Gly579Arg) http://identifiers.org/clinvar/67687 ^@ NM_000335.4(SCN5A):c.1756G>A (p.Ala586Thr) http://identifiers.org/clinvar/67688 ^@ NM_000335.4(SCN5A):c.1776C>A (p.Asn592Lys) http://identifiers.org/clinvar/67689 ^@ NM_000335.4(SCN5A):c.1787A>G (p.Asp596Gly) http://identifiers.org/clinvar/67690 ^@ NM_000335.4(SCN5A):c.1802T>C (p.Val601Ala) http://identifiers.org/clinvar/67691 ^@ NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) http://identifiers.org/clinvar/67692 ^@ NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) http://identifiers.org/clinvar/67693 ^@ NM_000335.4(SCN5A):c.1855C>T (p.Leu619Phe) http://identifiers.org/clinvar/67694 ^@ NM_000335.4(SCN5A):c.1858C>T (p.Arg620Cys) http://identifiers.org/clinvar/67695 ^@ NM_000335.4(SCN5A):c.1895C>T (p.Thr632Met) http://identifiers.org/clinvar/67696 ^@ NM_000335.4(SCN5A):c.1910C>T (p.Pro637Leu) http://identifiers.org/clinvar/67697 ^@ NM_000335.4(SCN5A):c.1913G>A (p.Gly638Asp) http://identifiers.org/clinvar/67698 ^@ NM_198056.2(SCN5A):c.1915G>A (p.Gly639Arg) http://identifiers.org/clinvar/67699 ^@ NM_000335.4(SCN5A):c.1915G>C (p.Gly639Arg) http://identifiers.org/clinvar/67700 ^@ NM_000335.4(SCN5A):c.1918C>G (p.Pro640Ala) http://identifiers.org/clinvar/67701 ^@ NM_000335.4(SCN5A):c.1940C>A (p.Ala647Asp) http://identifiers.org/clinvar/67702 ^@ NM_000335.4(SCN5A):c.1960G>A (p.Glu654Lys) http://identifiers.org/clinvar/67703 ^@ NM_000335.4(SCN5A):c.1981C>T (p.Arg661Trp) http://identifiers.org/clinvar/67704 ^@ NM_198056.2(SCN5A):c.2014G>A (p.Ala672Thr) http://identifiers.org/clinvar/67705 ^@ NM_000335.4(SCN5A):c.2018T>C (p.Leu673Pro) http://identifiers.org/clinvar/67706 ^@ NM_000335.4(SCN5A):c.2039G>A (p.Arg680His) http://identifiers.org/clinvar/67707 ^@ NM_000335.4(SCN5A):c.2042A>C (p.His681Pro) http://identifiers.org/clinvar/67708 ^@ NM_000335.4(SCN5A):c.2047T>G (p.Cys683Gly) http://identifiers.org/clinvar/67709 ^@ NM_000335.4(SCN5A):c.2065C>T (p.Arg689Cys) http://identifiers.org/clinvar/67710 ^@ NM_000335.4(SCN5A):c.2066G>A (p.Arg689His) http://identifiers.org/clinvar/67711 ^@ NM_000335.4(SCN5A):c.2071G>A (p.Ala691Thr) http://identifiers.org/clinvar/67712 ^@ NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) http://identifiers.org/clinvar/67713 ^@ NM_198056.2(SCN5A):c.2102C>T (p.Pro701Leu) http://identifiers.org/clinvar/67714 ^@ NM_000335.4(SCN5A):c.210T>G (p.Asn70Lys) http://identifiers.org/clinvar/67715 ^@ NM_000335.4(SCN5A):c.2114C>T (p.Ser705Phe) http://identifiers.org/clinvar/67716 ^@ NM_000335.4(SCN5A):c.2126G>T (p.Gly709Val) http://identifiers.org/clinvar/67717 ^@ NM_000335.4(SCN5A):c.2150C>T (p.Pro717Leu) http://identifiers.org/clinvar/67718 ^@ NM_000335.4(SCN5A):c.2192C>T (p.Thr731Ile) http://identifiers.org/clinvar/67719 ^@ NM_000335.4(SCN5A):c.2203G>A (p.Ala735Thr) http://identifiers.org/clinvar/67720 ^@ NM_000335.4(SCN5A):c.2204C>A (p.Ala735Glu) http://identifiers.org/clinvar/67721 ^@ NM_000335.4(SCN5A):c.2236G>A (p.Glu746Lys) http://identifiers.org/clinvar/67722 ^@ NM_000335.4(SCN5A):c.2249A>G (p.Gln750Arg) http://identifiers.org/clinvar/67723 ^@ NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) http://identifiers.org/clinvar/67724 ^@ NM_000335.4(SCN5A):c.2273G>A (p.Gly758Glu) http://identifiers.org/clinvar/67725 ^@ NM_000335.4(SCN5A):c.2275A>T (p.Ile759Phe) http://identifiers.org/clinvar/67726 ^@ NM_000335.4(SCN5A):c.2291T>G (p.Met764Arg) http://identifiers.org/clinvar/67727 ^@ NM_000335.4(SCN5A):c.2317C>T (p.Pro773Ser) http://identifiers.org/clinvar/67728 ^@ NM_000335.4(SCN5A):c.2335C>A (p.Gln779Lys) http://identifiers.org/clinvar/67729 ^@ NM_000335.4(SCN5A):c.2365G>A (p.Val789Ile) http://identifiers.org/clinvar/67730 ^@ NM_000335.4(SCN5A):c.2423G>C (p.Arg808Pro) http://identifiers.org/clinvar/67731 ^@ NM_198056.2(SCN5A):c.2440C>T (p.Arg814Trp) http://identifiers.org/clinvar/67732 ^@ NM_198056.2(SCN5A):c.2441G>A (p.Arg814Gln) http://identifiers.org/clinvar/67733 ^@ NM_000335.4(SCN5A):c.2447T>A (p.Phe816Tyr) http://identifiers.org/clinvar/67734 ^@ NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) http://identifiers.org/clinvar/67735 ^@ NM_000335.4(SCN5A):c.2504C>T (p.Ser835Leu) http://identifiers.org/clinvar/67736 ^@ NM_000335.4(SCN5A):c.250G>A (p.Asp84Asn) http://identifiers.org/clinvar/67737 ^@ NM_000335.4(SCN5A):c.2516T>C (p.Leu839Pro) http://identifiers.org/clinvar/67738 ^@ NM_000335.4(SCN5A):c.2518G>C (p.Gly840Arg) http://identifiers.org/clinvar/67739 ^@ NM_198056.2(SCN5A):c.2527A>G (p.Thr843Ala) http://identifiers.org/clinvar/67740 ^@ NM_198056.2(SCN5A):c.2542A>T (p.Ile848Phe) http://identifiers.org/clinvar/67741 ^@ NM_000335.4(SCN5A):c.2551T>C (p.Phe851Leu) http://identifiers.org/clinvar/67742 ^@ NM_000335.4(SCN5A):c.2553C>A (p.Phe851Leu) http://identifiers.org/clinvar/67743 ^@ NM_000335.4(SCN5A):c.2599G>C (p.Glu867Gln) http://identifiers.org/clinvar/67744 ^@ NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) http://identifiers.org/clinvar/67745 ^@ NM_000335.4(SCN5A):c.2633G>A (p.Arg878His) http://identifiers.org/clinvar/67746 ^@ NM_000335.4(SCN5A):c.2657A>C (p.His886Pro) http://identifiers.org/clinvar/67747 ^@ NM_000335.4(SCN5A):c.2674T>A (p.Phe892Ile) http://identifiers.org/clinvar/67748 ^@ NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) http://identifiers.org/clinvar/67749 ^@ NM_000335.4(SCN5A):c.2678G>A (p.Arg893His) http://identifiers.org/clinvar/67750 ^@ NM_000335.4(SCN5A):c.2686T>A (p.Cys896Ser) http://identifiers.org/clinvar/67751 ^@ NM_000335.4(SCN5A):c.26G>T (p.Gly9Val) http://identifiers.org/clinvar/67752 ^@ NM_000335.4(SCN5A):c.2701G>A (p.Glu901Lys) http://identifiers.org/clinvar/67753 ^@ NM_000335.4(SCN5A):c.2729C>T (p.Ser910Leu) http://identifiers.org/clinvar/67754 ^@ NM_000335.4(SCN5A):c.2743T>C (p.Cys915Arg) http://identifiers.org/clinvar/67755 ^@ NM_000335.4(SCN5A):c.2750T>G (p.Leu917Arg) http://identifiers.org/clinvar/67756 ^@ NM_000335.4(SCN5A):c.2780A>G (p.Asn927Ser) http://identifiers.org/clinvar/67757 ^@ NM_000335.4(SCN5A):c.2783T>C (p.Leu928Pro) http://identifiers.org/clinvar/67758 ^@ NM_000335.4(SCN5A):c.278T>C (p.Phe93Ser) http://identifiers.org/clinvar/67759 ^@ NM_000335.4(SCN5A):c.2804T>C (p.Leu935Pro) http://identifiers.org/clinvar/67760 ^@ NM_000335.4(SCN5A):c.281T>G (p.Ile94Ser) http://identifiers.org/clinvar/67761 ^@ NM_198056.2(SCN5A):c.283G>A (p.Val95Ile) http://identifiers.org/clinvar/67762 ^@ NM_000335.4(SCN5A):c.2878C>A (p.Gln960Lys) http://identifiers.org/clinvar/67763 ^@ NM_198056.2(SCN5A):c.2893C>T (p.Arg965Cys) http://identifiers.org/clinvar/67764 ^@ NM_000335.4(SCN5A):c.2894G>A (p.Arg965His) http://identifiers.org/clinvar/67765 ^@ NM_000335.4(SCN5A):c.2894G>T (p.Arg965Leu) http://identifiers.org/clinvar/67766 ^@ NM_000335.4(SCN5A):c.2911C>T (p.Arg971Cys) http://identifiers.org/clinvar/67767 ^@ NM_000335.4(SCN5A):c.2923C>T (p.Arg975Trp) http://identifiers.org/clinvar/67768 ^@ NM_000335.4(SCN5A):c.2942G>T (p.Cys981Phe) http://identifiers.org/clinvar/67769 ^@ NM_000335.4(SCN5A):c.2944T>C (p.Cys982Arg) http://identifiers.org/clinvar/67770 ^@ NM_198056.2(SCN5A):c.2957G>A (p.Arg986Gln) http://identifiers.org/clinvar/67771 ^@ NM_198056.2(SCN5A):c.2989G>A (p.Ala997Thr) http://identifiers.org/clinvar/67772 ^@ NM_198056.2(SCN5A):c.3010T>C (p.Cys1004Arg) http://identifiers.org/clinvar/67773 ^@ NM_000335.4(SCN5A):c.3022C>T (p.Pro1008Ser) http://identifiers.org/clinvar/67774 ^@ NM_000335.4(SCN5A):c.3047C>T (p.Thr1016Met) http://identifiers.org/clinvar/67775 ^@ NM_198056.2(SCN5A):c.3068G>A (p.Arg1023His) http://identifiers.org/clinvar/67776 ^@ NM_000335.4(SCN5A):c.3098A>G (p.Gln1033Arg) http://identifiers.org/clinvar/67777 ^@ NM_000335.4(SCN5A):c.310C>G (p.Arg104Gly) http://identifiers.org/clinvar/67778 ^@ NM_198056.2(SCN5A):c.310C>T (p.Arg104Trp) http://identifiers.org/clinvar/67779 ^@ NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg) http://identifiers.org/clinvar/67780 ^@ NM_198056.2(SCN5A):c.311G>A (p.Arg104Gln) http://identifiers.org/clinvar/67781 ^@ NM_000335.4(SCN5A):c.3164A>G (p.Asp1055Gly) http://identifiers.org/clinvar/67782 ^@ NM_198056.2(SCN5A):c.3206C>T (p.Thr1069Met) http://identifiers.org/clinvar/67783 ^@ NM_000335.4(SCN5A):c.3233C>A (p.Ser1078Tyr) http://identifiers.org/clinvar/67784 ^@ NM_000335.4(SCN5A):c.3233C>T (p.Ser1078Phe) http://identifiers.org/clinvar/67785 ^@ NM_000335.4(SCN5A):c.3242T>C (p.Val1081Ala) http://identifiers.org/clinvar/67786 ^@ NM_000335.4(SCN5A):c.3247G>A (p.Gly1083Ser) http://identifiers.org/clinvar/67787 ^@ NM_000335.4(SCN5A):c.327C>A (p.Asn109Lys) http://identifiers.org/clinvar/67788 ^@ NM_198056.2(SCN5A):c.3292G>T (p.Val1098Leu) http://identifiers.org/clinvar/67789 ^@ NM_000335.4(SCN5A):c.3296C>T (p.Ala1099Val) http://identifiers.org/clinvar/67790 ^@ NM_000335.4(SCN5A):c.3316G>A (p.Glu1106Lys) http://identifiers.org/clinvar/67791 ^@ NM_000335.4(SCN5A):c.3335C>T (p.Ala1112Val) http://identifiers.org/clinvar/67792 ^@ NM_000335.4(SCN5A):c.3337G>A (p.Asp1113Asn) http://identifiers.org/clinvar/67793 ^@ NM_000335.4(SCN5A):c.3343C>T (p.Arg1115Trp) http://identifiers.org/clinvar/67794 ^@ NM_000335.4(SCN5A):c.337G>A (p.Val113Ile) http://identifiers.org/clinvar/67795 ^@ NM_198056.2(SCN5A):c.3392C>T (p.Thr1131Ile) http://identifiers.org/clinvar/67796 ^@ NM_198056.2(SCN5A):c.3413A>C (p.Glu1138Ala) http://identifiers.org/clinvar/67797 ^@ NM_000335.4(SCN5A):c.3416G>C (p.Ser1139Thr) http://identifiers.org/clinvar/67798 ^@ NM_000335.4(SCN5A):c.343A>G (p.Ser115Gly) http://identifiers.org/clinvar/67799 ^@ NM_000335.4(SCN5A):c.3493G>A (p.Asp1165Asn) http://identifiers.org/clinvar/67800 ^@ NM_000335.4(SCN5A):c.3520C>T (p.Arg1174Cys) http://identifiers.org/clinvar/67801 ^@ NM_198056.2(SCN5A):c.3539C>T (p.Ala1180Val) http://identifiers.org/clinvar/67802 ^@ NM_000335.4(SCN5A):c.3553G>A (p.Ala1185Thr) http://identifiers.org/clinvar/67803 ^@ NM_000335.4(SCN5A):c.3557C>T (p.Pro1186Leu) http://identifiers.org/clinvar/67804 ^@ NM_000335.4(SCN5A):c.3581G>A (p.Arg1194His) http://identifiers.org/clinvar/67805 ^@ NM_198056.2(SCN5A):c.3596A>C (p.Tyr1199Ser) http://identifiers.org/clinvar/67806 ^@ NM_000335.4(SCN5A):c.3615G>T (p.Trp1205Cys) http://identifiers.org/clinvar/67807 ^@ NM_198056.2(SCN5A):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/67808 ^@ NM_000335.4(SCN5A):c.362G>A (p.Arg121Gln) http://identifiers.org/clinvar/67809 ^@ NM_000335.4(SCN5A):c.3653G>A (p.Ser1218Asn) http://identifiers.org/clinvar/67810 ^@ NM_000335.4(SCN5A):c.3670G>A (p.Glu1224Lys) http://identifiers.org/clinvar/67811 ^@ NM_000335.4(SCN5A):c.3679T>C (p.Tyr1227His) http://identifiers.org/clinvar/67812 ^@ NM_198056.2(SCN5A):c.3691G>A (p.Glu1231Lys) http://identifiers.org/clinvar/67814 ^@ NM_198056.2(SCN5A):c.3695G>A (p.Arg1232Gln) http://identifiers.org/clinvar/67815 ^@ NM_000335.4(SCN5A):c.3704A>G (p.Lys1235Arg) http://identifiers.org/clinvar/67816 ^@ NM_000335.4(SCN5A):c.3705G>T (p.Lys1235Asn) http://identifiers.org/clinvar/67817 ^@ NM_000335.4(SCN5A):c.3713T>C (p.Leu1238Pro) http://identifiers.org/clinvar/67818 ^@ NM_198056.2(SCN5A):c.3718G>C (p.Glu1240Gln) http://identifiers.org/clinvar/67819 ^@ NM_000335.4(SCN5A):c.3719A>C (p.Tyr1240Ser) http://identifiers.org/clinvar/67820 ^@ NM_000335.4(SCN5A):c.3724G>A (p.Asp1242Asn) http://identifiers.org/clinvar/67821 ^@ NM_000335.4(SCN5A):c.373G>C (p.Val125Leu) http://identifiers.org/clinvar/67822 ^@ NM_000335.4(SCN5A):c.3743T>A (p.Val1248Asp) http://identifiers.org/clinvar/67823 ^@ NM_000335.4(SCN5A):c.3745T>C (p.Phe1249Leu) http://identifiers.org/clinvar/67824 ^@ NM_198056.2(SCN5A):c.3751G>A (p.Val1251Met) http://identifiers.org/clinvar/67825 ^@ NM_000335.4(SCN5A):c.3755A>G (p.Glu1252Gly) http://identifiers.org/clinvar/67826 ^@ NM_000335.4(SCN5A):c.376A>G (p.Lys126Glu) http://identifiers.org/clinvar/67827 ^@ NM_000335.4(SCN5A):c.3810G>C (p.Trp1270Cys) http://identifiers.org/clinvar/67828 ^@ NM_000335.4(SCN5A):c.3830T>A (p.Ile1277Asn) http://identifiers.org/clinvar/67829 ^@ NM_000335.4(SCN5A):c.3832G>A (p.Val1278Ile) http://identifiers.org/clinvar/67830 ^@ NM_000335.4(SCN5A):c.3838G>T (p.Val1280Phe) http://identifiers.org/clinvar/67831 ^@ NM_000335.4(SCN5A):c.3844C>A (p.Leu1282Met) http://identifiers.org/clinvar/67832 ^@ NM_000335.4(SCN5A):c.3860C>G (p.Ala1287Gly) http://identifiers.org/clinvar/67833 ^@ NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) http://identifiers.org/clinvar/67834 ^@ NM_198056.2(SCN5A):c.3883G>A (p.Glu1295Lys) http://identifiers.org/clinvar/67835 ^@ NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) http://identifiers.org/clinvar/67837 ^@ NM_000335.4(SCN5A):c.3929T>C (p.Leu1310Pro) http://identifiers.org/clinvar/67838 ^@ NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) http://identifiers.org/clinvar/67839 ^@ NM_000335.4(SCN5A):c.3965T>G (p.Val1322Gly) http://identifiers.org/clinvar/67840 ^@ NM_198056.2(SCN5A):c.3976G>T (p.Ala1326Ser) http://identifiers.org/clinvar/67841 ^@ NM_000335.4(SCN5A):c.3982G>A (p.Gly1328Ser) http://identifiers.org/clinvar/67842 ^@ NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) http://identifiers.org/clinvar/67843 ^@ NM_000335.4(SCN5A):c.3985G>C (p.Ala1329Pro) http://identifiers.org/clinvar/67844 ^@ NM_198056.2(SCN5A):c.3995C>T (p.Pro1332Leu) http://identifiers.org/clinvar/67845 ^@ NM_000335.4(SCN5A):c.3995C>A (p.Ser1332Tyr) http://identifiers.org/clinvar/67846 ^@ NM_000335.4(SCN5A):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/67847 ^@ NM_198056.2(SCN5A):c.4000A>G (p.Ile1334Val) http://identifiers.org/clinvar/67848 ^@ NM_000335.4(SCN5A):c.4009C>G (p.Leu1337Val) http://identifiers.org/clinvar/67849 ^@ NM_198056.2(SCN5A):c.4018G>A (p.Val1340Ile) http://identifiers.org/clinvar/67850 ^@ NM_000335.4(SCN5A):c.4027T>C (p.Phe1343Leu) http://identifiers.org/clinvar/67851 ^@ NM_000335.4(SCN5A):c.4028T>C (p.Phe1343Ser) http://identifiers.org/clinvar/67852 ^@ NM_000335.4(SCN5A):c.4032G>T (p.Trp1344Cys) http://identifiers.org/clinvar/67853 ^@ NM_000335.4(SCN5A):c.4033C>A (p.Leu1345Ile) http://identifiers.org/clinvar/67854 ^@ NM_000335.4(SCN5A):c.4034T>C (p.Leu1345Pro) http://identifiers.org/clinvar/67855 ^@ NM_000335.4(SCN5A):c.4046T>C (p.Ile1349Thr) http://identifiers.org/clinvar/67856 ^@ NM_000335.4(SCN5A):c.4049T>G (p.Met1350Arg) http://identifiers.org/clinvar/67857 ^@ NM_198056.2(SCN5A):c.4057G>A (p.Val1353Met) http://identifiers.org/clinvar/67858 ^@ NM_000335.4(SCN5A):c.4069G>T (p.Gly1357Trp) http://identifiers.org/clinvar/67859 ^@ NM_000335.4(SCN5A):c.4074G>T (p.Lys1358Asn) http://identifiers.org/clinvar/67860 ^@ NM_000335.4(SCN5A):c.4076T>G (p.Phe1359Cys) http://identifiers.org/clinvar/67861 ^@ NM_000335.4(SCN5A):c.407T>C (p.Leu136Pro) http://identifiers.org/clinvar/67862 ^@ NM_000335.4(SCN5A):c.4085G>A (p.Cys1362Tyr) http://identifiers.org/clinvar/67863 ^@ NM_000335.4(SCN5A):c.4137C>G (p.Asn1379Lys) http://identifiers.org/clinvar/67864 ^@ NM_000335.4(SCN5A):c.4142G>T (p.Ser1381Ile) http://identifiers.org/clinvar/67865 ^@ NM_000335.4(SCN5A):c.414G>A (p.Met138Ile) http://identifiers.org/clinvar/67866 ^@ NM_000335.4(SCN5A):c.4210G>A (p.Val1404Met) http://identifiers.org/clinvar/67867 ^@ NM_000335.4(SCN5A):c.4210G>C (p.Val1404Leu) http://identifiers.org/clinvar/67868 ^@ NM_000335.4(SCN5A):c.4213G>A (p.Gly1405Arg) http://identifiers.org/clinvar/67869 ^@ NM_198056.2(SCN5A):c.4217G>A (p.Gly1406Glu) http://identifiers.org/clinvar/67870 ^@ NM_000335.4(SCN5A):c.4223A>G (p.Tyr1408Cys) http://identifiers.org/clinvar/67871 ^@ NM_000335.4(SCN5A):c.4231C>T (p.Leu1411Phe) http://identifiers.org/clinvar/67872 ^@ NM_000335.4(SCN5A):c.4252A>G (p.Lys1418Glu) http://identifiers.org/clinvar/67873 ^@ NM_000335.4(SCN5A):c.4255G>C (p.Gly1419Arg) http://identifiers.org/clinvar/67874 ^@ NM_000335.4(SCN5A):c.4256G>T (p.Gly1419Val) http://identifiers.org/clinvar/67875 ^@ NM_000335.4(SCN5A):c.4276G>T (p.Ala1426Ser) http://identifiers.org/clinvar/67876 ^@ NM_000335.4(SCN5A):c.4280C>T (p.Ala1427Val) http://identifiers.org/clinvar/67877 ^@ NM_000335.4(SCN5A):c.4291A>G (p.Arg1431Gly) http://identifiers.org/clinvar/67878 ^@ NM_198056.2(SCN5A):c.4296G>C (p.Arg1432Ser) http://identifiers.org/clinvar/67879 ^@ NM_000335.4(SCN5A):c.4295G>T (p.Gly1432Val) http://identifiers.org/clinvar/67880 ^@ NM_000335.4(SCN5A):c.4310C>T (p.Pro1437Leu) http://identifiers.org/clinvar/67881 ^@ NM_198056.2(SCN5A):c.4321G>C (p.Glu1441Gln) http://identifiers.org/clinvar/67882 ^@ NM_198056.2(SCN5A):c.4342A>C (p.Ile1448Leu) http://identifiers.org/clinvar/67883 ^@ NM_000335.4(SCN5A):c.4340T>C (p.Ile1447Thr) http://identifiers.org/clinvar/67884 ^@ NM_198056.2(SCN5A):c.4346A>G (p.Tyr1449Cys) http://identifiers.org/clinvar/67885 ^@ NM_000335.4(SCN5A):c.4349T>A (p.Val1450Asp) http://identifiers.org/clinvar/67886 ^@ NM_000335.4(SCN5A):c.436G>A (p.Val146Met) http://identifiers.org/clinvar/67887 ^@ NM_198056.2(SCN5A):c.4373C>A (p.Ser1458Tyr) http://identifiers.org/clinvar/67888 ^@ NM_000335.4(SCN5A):c.4384A>T (p.Asn1462Tyr) http://identifiers.org/clinvar/67889 ^@ NM_000335.4(SCN5A):c.4399G>T (p.Val1467Phe) http://identifiers.org/clinvar/67890 ^@ NM_000335.4(SCN5A):c.4412A>G (p.Asn1471Ser) http://identifiers.org/clinvar/67891 ^@ NM_000335.4(SCN5A):c.4415T>C (p.Phe1472Ser) http://identifiers.org/clinvar/67892 ^@ NM_000335.4(SCN5A):c.4415T>G (p.Phe1472Cys) http://identifiers.org/clinvar/67893 ^@ NM_000335.4(SCN5A):c.4439G>A (p.Gly1480Glu) http://identifiers.org/clinvar/67894 ^@ NM_000335.4(SCN5A):c.4453T>C (p.Phe1485Leu) http://identifiers.org/clinvar/67895 ^@ NM_000335.4(SCN5A):c.4456A>C (p.Met1486Leu) http://identifiers.org/clinvar/67896 ^@ NM_000335.4(SCN5A):c.4460C>G (p.Thr1487Arg) http://identifiers.org/clinvar/67897 ^@ NM_000335.4(SCN5A):c.4464G>T (p.Glu1488Asp) http://identifiers.org/clinvar/67898 ^@ NM_198056.2(SCN5A):c.4478A>G (p.Lys1493Arg) http://identifiers.org/clinvar/67899 ^@ NM_000335.4(SCN5A):c.4477T>A (p.Tyr1493Asn) http://identifiers.org/clinvar/67900 ^@ NM_198056.2(SCN5A):c.4484A>C (p.Tyr1495Ser) http://identifiers.org/clinvar/67901 ^@ NM_000335.4(SCN5A):c.4489A>G (p.Met1497Val) http://identifiers.org/clinvar/67902 ^@ NM_198056.2(SCN5A):c.4493T>C (p.Met1498Thr) http://identifiers.org/clinvar/67903 ^@ NM_000335.4(SCN5A):c.4497G>T (p.Lys1499Asn) http://identifiers.org/clinvar/67904 ^@ NM_000335.4(SCN5A):c.4498C>G (p.Leu1500Val) http://identifiers.org/clinvar/67905 ^@ NM_000335.4(SCN5A):c.4501G>A (p.Gly1501Ser) http://identifiers.org/clinvar/67906 ^@ NM_000335.4(SCN5A):c.4504T>C (p.Ser1502Pro) http://identifiers.org/clinvar/67907 ^@ NM_000335.4(SCN5A):c.4512G>T (p.Lys1504Asn) http://identifiers.org/clinvar/67908 ^@ NM_000335.4(SCN5A):c.4557C>G (p.Phe1519Leu) http://identifiers.org/clinvar/67909 ^@ NM_000335.4(SCN5A):c.4559T>A (p.Ile1520Lys) http://identifiers.org/clinvar/67910 ^@ NM_000335.4(SCN5A):c.4570G>A (p.Val1524Met) http://identifiers.org/clinvar/67911 ^@ NM_000335.4(SCN5A):c.4577A>G (p.Lys1526Arg) http://identifiers.org/clinvar/67912 ^@ NM_000335.4(SCN5A):c.4591G>A (p.Val1531Ile) http://identifiers.org/clinvar/67913 ^@ NM_000335.4(SCN5A):c.4639G>A (p.Glu1547Lys) http://identifiers.org/clinvar/67914 ^@ NM_000335.4(SCN5A):c.4654A>C (p.Ser1552Arg) http://identifiers.org/clinvar/67915 ^@ NM_000335.4(SCN5A):c.4677G>C (p.Leu1559Phe) http://identifiers.org/clinvar/67916 ^@ NM_000335.4(SCN5A):c.4702G>C (p.Ala1568Pro) http://identifiers.org/clinvar/67917 ^@ NM_000335.4(SCN5A):c.4709T>G (p.Phe1570Cys) http://identifiers.org/clinvar/67918 ^@ NM_000335.4(SCN5A):c.4717G>A (p.Glu1573Lys) http://identifiers.org/clinvar/67919 ^@ NM_000335.4(SCN5A):c.4742T>C (p.Leu1581Pro) http://identifiers.org/clinvar/67920 ^@ NM_198056.2(SCN5A):c.4747C>T (p.Arg1583Cys) http://identifiers.org/clinvar/67921 ^@ NM_198056.2(SCN5A):c.4748G>A (p.Arg1583His) http://identifiers.org/clinvar/67922 ^@ NM_000335.4(SCN5A):c.4776C>G (p.Ile1592Met) http://identifiers.org/clinvar/67923 ^@ NM_000335.4(SCN5A):c.4778T>C (p.Phe1593Ser) http://identifiers.org/clinvar/67924 ^@ NM_198056.2(SCN5A):c.4786T>A (p.Phe1596Ile) http://identifiers.org/clinvar/67925 ^@ NM_000335.4(SCN5A):c.4786G>A (p.Val1596Met) http://identifiers.org/clinvar/67926 ^@ NM_198056.2(SCN5A):c.4810G>A (p.Val1604Met) http://identifiers.org/clinvar/67927 ^@ NM_000335.4(SCN5A):c.481G>A (p.Glu161Lys) http://identifiers.org/clinvar/67928 ^@ NM_000335.4(SCN5A):c.481G>C (p.Glu161Gln) http://identifiers.org/clinvar/67929 ^@ NM_000335.4(SCN5A):c.4823C>G (p.Ser1608Trp) http://identifiers.org/clinvar/67930 ^@ NM_000335.4(SCN5A):c.4835A>T (p.Gln1612Leu) http://identifiers.org/clinvar/67931 ^@ NM_000335.4(SCN5A):c.4856C>A (p.Thr1619Lys) http://identifiers.org/clinvar/67933 ^@ NM_000335.4(SCN5A):c.4865G>T (p.Arg1622Leu) http://identifiers.org/clinvar/67934 ^@ NM_198056.2(SCN5A):c.4877G>A (p.Arg1626His) http://identifiers.org/clinvar/67935 ^@ NM_000335.4(SCN5A):c.4874G>C (p.Arg1625Pro) http://identifiers.org/clinvar/67936 ^@ NM_000335.4(SCN5A):c.4882C>G (p.Arg1628Gly) http://identifiers.org/clinvar/67937 ^@ NM_000335.4(SCN5A):c.4883G>A (p.Arg1628Gln) http://identifiers.org/clinvar/67938 ^@ NM_000335.4(SCN5A):c.4889G>A (p.Gly1630Asp) http://identifiers.org/clinvar/67939 ^@ NM_000335.4(SCN5A):c.4892G>A (p.Arg1631His) http://identifiers.org/clinvar/67940 ^@ NM_000335.4(SCN5A):c.4922G>A (p.Gly1641Glu) http://identifiers.org/clinvar/67941 ^@ NM_000335.4(SCN5A):c.4927C>T (p.Arg1643Cys) http://identifiers.org/clinvar/67942 ^@ NM_198056.2(SCN5A):c.4934C>T (p.Thr1645Met) http://identifiers.org/clinvar/67943 ^@ NM_000335.4(SCN5A):c.4943C>T (p.Ala1648Val) http://identifiers.org/clinvar/67944 ^@ NM_000335.4(SCN5A):c.4945C>T (p.Leu1649Phe) http://identifiers.org/clinvar/67945 ^@ NM_000335.4(SCN5A):c.4952T>C (p.Met1651Thr) http://identifiers.org/clinvar/67946 ^@ NM_000335.4(SCN5A):c.4952T>G (p.Met1651Arg) http://identifiers.org/clinvar/67947 ^@ NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) http://identifiers.org/clinvar/67948 ^@ NM_000335.4(SCN5A):c.4978G>C (p.Gly1660Arg) http://identifiers.org/clinvar/67949 ^@ NM_001160160.1(SCN5A):c.4900G>A (p.Val1634Ile) http://identifiers.org/clinvar/67950 ^@ NM_000335.4(SCN5A):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/67951 ^@ NM_000335.4(SCN5A):c.5012C>A (p.Ser1671Tyr) http://identifiers.org/clinvar/67952 ^@ NM_198056.2(SCN5A):c.5038G>A (p.Ala1680Thr) http://identifiers.org/clinvar/67953 ^@ NM_000335.4(SCN5A):c.5089G>A (p.Ala1697Thr) http://identifiers.org/clinvar/67954 ^@ NM_000335.4(SCN5A):c.5111T>C (p.Phe1704Ser) http://identifiers.org/clinvar/67955 ^@ NM_000335.4(SCN5A):c.5115G>C (p.Gln1705His) http://identifiers.org/clinvar/67956 ^@ NM_000335.4(SCN5A):c.5123C>G (p.Thr1708Arg) http://identifiers.org/clinvar/67957 ^@ NM_198056.2(SCN5A):c.5126C>T (p.Thr1709Met) http://identifiers.org/clinvar/67958 ^@ NM_000335.4(SCN5A):c.5131G>A (p.Gly1711Ser) http://identifiers.org/clinvar/67959 ^@ NM_000335.4(SCN5A):c.5138A>G (p.Asp1713Gly) http://identifiers.org/clinvar/67960 ^@ NM_000335.4(SCN5A):c.5161A>G (p.Asn1721Asp) http://identifiers.org/clinvar/67961 ^@ NM_198056.2(SCN5A):c.5168C>A (p.Thr1723Asn) http://identifiers.org/clinvar/67962 ^@ NM_000335.4(SCN5A):c.5171C>T (p.Pro1724Leu) http://identifiers.org/clinvar/67963 ^@ NM_000335.4(SCN5A):c.5179T>C (p.Cys1727Arg) http://identifiers.org/clinvar/67964 ^@ NM_000335.4(SCN5A):c.5181C>G (p.Cys1727Trp) http://identifiers.org/clinvar/67965 ^@ NM_000335.4(SCN5A):c.5212C>T (p.Arg1738Trp) http://identifiers.org/clinvar/67966 ^@ NM_000335.4(SCN5A):c.5215G>A (p.Gly1739Arg) http://identifiers.org/clinvar/67967 ^@ NM_198056.2(SCN5A):c.5227G>A (p.Gly1743Arg) http://identifiers.org/clinvar/67968 ^@ NM_000335.4(SCN5A):c.5225G>A (p.Gly1742Glu) http://identifiers.org/clinvar/67969 ^@ NM_000335.4(SCN5A):c.5233G>A (p.Ala1745Thr) http://identifiers.org/clinvar/67970 ^@ NM_198056.2(SCN5A):c.5239G>A (p.Val1747Met) http://identifiers.org/clinvar/67971 ^@ NM_000335.4(SCN5A):c.525G>C (p.Lys175Asn) http://identifiers.org/clinvar/67972 ^@ NM_000335.4(SCN5A):c.5278C>T (p.Leu1760Phe) http://identifiers.org/clinvar/67973 ^@ NM_000335.4(SCN5A):c.5279T>A (p.Leu1760His) http://identifiers.org/clinvar/67974 ^@ NM_198056.2(SCN5A):c.5287G>A (p.Val1763Met) http://identifiers.org/clinvar/67975 ^@ NM_000335.4(SCN5A):c.528T>G (p.Ile176Met) http://identifiers.org/clinvar/214092 ^@ NM_000032.4(ALAS2):c.-15-1790G>A http://identifiers.org/clinvar/213984 ^@ NM_004299.4(ABCB7):c.1835-11T>C http://identifiers.org/clinvar/213983 ^@ NM_004299.4(ABCB7):c.1592A>G (p.Tyr531Cys) http://identifiers.org/clinvar/213977 ^@ NM_004299.4(ABCB7):c.1489C>T (p.Pro497Ser) http://identifiers.org/clinvar/213982 ^@ NM_004299.4(ABCB7):c.1483G>C (p.Glu495Gln) http://identifiers.org/clinvar/213976 ^@ NM_004299.4(ABCB7):c.1177A>G (p.Ile393Val) http://identifiers.org/clinvar/213988 ^@ NM_004299.4(ABCB7):c.871G>A (p.Gly291Ser) http://identifiers.org/clinvar/213979 ^@ NM_004299.4(ABCB7):c.292C>T (p.His98Tyr) http://identifiers.org/clinvar/213973 ^@ NM_004299.4(ABCB7):c.249+1G>A http://identifiers.org/clinvar/213986 ^@ NM_004299.4(ABCB7):c.170A>T (p.Gln57Leu) http://identifiers.org/clinvar/213987 ^@ NM_004299.4(ABCB7):c.121T>C (p.Trp41Arg) http://identifiers.org/clinvar/214969 ^@ NM_001161778.1(PDP1):c.305G>A http://identifiers.org/clinvar/216110 ^@ NM_014874.3(MFN2):c.600-?_816+?del http://identifiers.org/clinvar/216082 ^@ NM_001128425.1(MUTYH):c.349-?_*(1_?)del http://identifiers.org/clinvar/216686 ^@ NM_015074.3(KIF1B):c.85C>G (p.Gln29Glu) http://identifiers.org/clinvar/216685 ^@ NM_015074.3(KIF1B):c.1717C>T (p.Arg573Cys) http://identifiers.org/clinvar/215879 ^@ NM_015074.3(KIF1B):c.2172C>T (p.Ala724=) http://identifiers.org/clinvar/215880 ^@ NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg) http://identifiers.org/clinvar/215881 ^@ NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) http://identifiers.org/clinvar/215882 ^@ NM_015074.3(KIF1B):c.3497C>T (p.Pro1166Leu) http://identifiers.org/clinvar/215516 ^@ NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) http://identifiers.org/clinvar/215883 ^@ NM_015074.3(KIF1B):c.4839T>C (p.Ser1613=) http://identifiers.org/clinvar/216874 ^@ NM_014874.3(MFN2):c.708+11_708+13delCTC http://identifiers.org/clinvar/215515 ^@ NM_014874.3(MFN2):c.1495+9C>T http://identifiers.org/clinvar/216846 ^@ NM_213653.3(HFE2):c.1264T>C (p.Trp422Arg) http://identifiers.org/clinvar/216847 ^@ NM_213653.3(HFE2):c.749G>T (p.Gly250Val) http://identifiers.org/clinvar/216012 ^@ NM_213653.3(HFE2):c.238T>G (p.Cys80Gly) http://identifiers.org/clinvar/215993 ^@ NM_000530.7(MPZ):c.419C>G (p.Ser140Cys) http://identifiers.org/clinvar/216446 ^@ NM_000530.7(MPZ):c.310G>T (p.Asp104Tyr) http://identifiers.org/clinvar/215473 ^@ NM_000488.3(SERPINC1):c.1154-5T>C http://identifiers.org/clinvar/216071 ^@ NM_000488.3(SERPINC1):c.1060delC (p.Arg354Alafs) http://identifiers.org/clinvar/215751 ^@ NM_000488.3(SERPINC1):c.645A>G (p.Arg215=) http://identifiers.org/clinvar/216495 ^@ NM_001103.3(ACTN2):c.401T>C (p.Ile134Thr) http://identifiers.org/clinvar/216492 ^@ NM_001103.3(ACTN2):c.1046A>T (p.Gln349Leu) http://identifiers.org/clinvar/215781 ^@ NM_001103.3(ACTN2):c.1155C>T (p.Tyr385=) http://identifiers.org/clinvar/215782 ^@ NM_001103.3(ACTN2):c.2496C>T (p.Ile832=) http://identifiers.org/clinvar/216493 ^@ NM_001103.3(ACTN2):c.2569G>C (p.Asp857His) http://identifiers.org/clinvar/216494 ^@ NM_001103.3(ACTN2):c.2653T>C (p.Ser885Pro) http://identifiers.org/clinvar/216574 ^@ NM_003680.3(YARS):c.1180G>A (p.Val394Met) http://identifiers.org/clinvar/215506 ^@ NM_003680.3(YARS):c.1015G>A (p.Ala339Thr) http://identifiers.org/clinvar/216575 ^@ NM_003680.3(YARS):c.546A>G (p.Gln182=) http://identifiers.org/clinvar/216871 ^@ NM_001128425.1(MUTYH):c.1498_1502invCAACA (p.Gln500_Gln501delinsCysTrp) http://identifiers.org/clinvar/216081 ^@ NM_001128425.1(MUTYH):c.1474A>T (p.Lys492Ter) http://identifiers.org/clinvar/216518 ^@ NM_001128425.1(MUTYH):c.1255G>C (p.Ala419Pro) http://identifiers.org/clinvar/216080 ^@ NM_001128425.1(MUTYH):c.1214_1224delCGTCCGTGACC (p.Pro405Leufs) http://identifiers.org/clinvar/215796 ^@ NM_001128425.1(MUTYH):c.1074C>T (p.Phe358=) http://identifiers.org/clinvar/215798 ^@ NM_001128425.1(MUTYH):c.981T>C (p.Pro327=) http://identifiers.org/clinvar/216524 ^@ NM_001128425.1(MUTYH):c.936G>A (p.Val312=) http://identifiers.org/clinvar/216523 ^@ NM_001128425.1(MUTYH):c.909G>T (p.Glu303Asp) http://identifiers.org/clinvar/216522 ^@ NM_001128425.1(MUTYH):c.786C>T (p.Leu262=) http://identifiers.org/clinvar/215995 ^@ NM_001128425.1(MUTYH):c.504+2T>G http://identifiers.org/clinvar/215998 ^@ NM_001128425.1(MUTYH):c.389-2A>G http://identifiers.org/clinvar/216521 ^@ NM_001128425.1(MUTYH):c.389-7C>A http://identifiers.org/clinvar/216519 ^@ NM_001128425.1(MUTYH):c.305G>A (p.Ser102Asn) http://identifiers.org/clinvar/216525 ^@ NM_001128425.1(MUTYH):c.98A>C (p.Gln33Pro) http://identifiers.org/clinvar/216520 ^@ NM_001128425.1(MUTYH):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/215797 ^@ NM_001128425.1(MUTYH):c.37-7G>A http://identifiers.org/clinvar/215887 ^@ NM_015102.4(NPHP4):c.4114C>T (p.Leu1372=) http://identifiers.org/clinvar/215886 ^@ NM_015102.4(NPHP4):c.3984G>A (p.Pro1328=) http://identifiers.org/clinvar/215885 ^@ NM_015102.4(NPHP4):c.1935A>G (p.Leu645=) http://identifiers.org/clinvar/215518 ^@ NM_015102.4(NPHP4):c.1490C>G (p.Pro497Arg) http://identifiers.org/clinvar/215517 ^@ NM_015102.4(NPHP4):c.1482G>A (p.Gln494=) http://identifiers.org/clinvar/215888 ^@ NM_015102.4(NPHP4):c.492C>T (p.His164=) http://identifiers.org/clinvar/216434 ^@ NM_000465.3(BARD1):c.1315-?_*(1_?)dup http://identifiers.org/clinvar/216517 ^@ NM_002354.2(EPCAM):c.(?_-1)_858+?dup http://identifiers.org/clinvar/216051 ^@ NM_000251.2(MSH2):c.(?_-1)_1076+?del http://identifiers.org/clinvar/215984 ^@ NM_000251.2(MSH2):c.212-?_366+?dup http://identifiers.org/clinvar/216053 ^@ NM_000251.2(MSH2):c.1662-?_*(1_?)del http://identifiers.org/clinvar/216357 ^@ NM_000251.2(MSH2):c.2635-?_*(1_?)del http://identifiers.org/clinvar/216041 ^@ NM_000179.2(MSH6):c.(?_-1)_457+?del http://identifiers.org/clinvar/216417 ^@ NM_000272.3(NPHP1):c.2081A>G (p.Gln694Arg) http://identifiers.org/clinvar/216416 ^@ NM_000272.3(NPHP1):c.2029G>C (p.Glu677Gln) http://identifiers.org/clinvar/215727 ^@ NM_000272.3(NPHP1):c.728+8delA http://identifiers.org/clinvar/216768 ^@ NM_024753.4(TTC21B):c.3223G>C (p.Val1075Leu) http://identifiers.org/clinvar/216767 ^@ NM_024753.4(TTC21B):c.3158G>A (p.Arg1053His) http://identifiers.org/clinvar/216766 ^@ NM_024753.4(TTC21B):c.2167C>T (p.Arg723Trp) http://identifiers.org/clinvar/216125 ^@ NM_024753.4(TTC21B):c.684G>A (p.Trp228Ter) http://identifiers.org/clinvar/215799 ^@ NM_001165963.1(SCN1A):c.5634G>A (p.Glu1878=) http://identifiers.org/clinvar/216680 ^@ NM_014585.5(SLC40A1):c.1520A>G (p.His507Arg) http://identifiers.org/clinvar/216443 ^@ NM_000465.3(BARD1):c.2328C>T (p.Asp776=) http://identifiers.org/clinvar/216442 ^@ NM_000465.3(BARD1):c.2272G>C (p.Ala758Pro) http://identifiers.org/clinvar/216441 ^@ NM_000465.3(BARD1):c.2216A>G (p.Tyr739Cys) http://identifiers.org/clinvar/215748 ^@ NM_000465.3(BARD1):c.2178C>T (p.Pro726=) http://identifiers.org/clinvar/216440 ^@ NM_000465.3(BARD1):c.2065G>A (p.Asp689Asn) http://identifiers.org/clinvar/215747 ^@ NM_000465.3(BARD1):c.1788A>G (p.Lys596=) http://identifiers.org/clinvar/215746 ^@ NM_000465.3(BARD1):c.1731G>A (p.Leu577=) http://identifiers.org/clinvar/215471 ^@ NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met) http://identifiers.org/clinvar/216438 ^@ NM_000465.3(BARD1):c.1360C>T (p.Pro454Ser) http://identifiers.org/clinvar/216437 ^@ NM_000465.3(BARD1):c.1060T>A (p.Ser354Thr) http://identifiers.org/clinvar/216436 ^@ NM_000465.3(BARD1):c.1053G>T (p.Thr351=) http://identifiers.org/clinvar/215750 ^@ NM_000465.3(BARD1):c.927A>G (p.Thr309=) http://identifiers.org/clinvar/215749 ^@ NM_000465.3(BARD1):c.897T>C (p.Thr299=) http://identifiers.org/clinvar/215472 ^@ NM_000465.3(BARD1):c.365-8delT http://identifiers.org/clinvar/216439 ^@ NM_000465.3(BARD1):c.188T>C (p.Leu63Ser) http://identifiers.org/clinvar/216445 ^@ NM_000465.3(BARD1):c.71C>G (p.Pro24Arg) http://identifiers.org/clinvar/216444 ^@ NM_000465.3(BARD1):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/216112 ^@ NM_014946.3(SPAST):c.464delA (p.Glu155Aspfs) http://identifiers.org/clinvar/216113 ^@ NM_014946.3(SPAST):c.925delC (p.Arg309Valfs) http://identifiers.org/clinvar/216109 ^@ NM_014946.3(SPAST):c.1245delC (p.Tyr415Terfs) http://identifiers.org/clinvar/216684 ^@ NM_014946.3(SPAST):c.1363C>G (p.His455Asp) http://identifiers.org/clinvar/216111 ^@ NM_014946.3(SPAST):c.1417C>T (p.Gln473Ter) http://identifiers.org/clinvar/215850 ^@ NM_005633.3(SOS1):c.3813G>A (p.Arg1271=) http://identifiers.org/clinvar/216553 ^@ NM_002354.2(EPCAM):c.28G>A (p.Gly10Arg) http://identifiers.org/clinvar/216555 ^@ NM_002354.2(EPCAM):c.34C>A (p.Leu12Met) http://identifiers.org/clinvar/216561 ^@ NM_002354.2(EPCAM):c.76+5G>A http://identifiers.org/clinvar/215817 ^@ NM_002354.2(EPCAM):c.76+6G>T http://identifiers.org/clinvar/216551 ^@ NM_002354.2(EPCAM):c.123T>A (p.Asn41Lys) http://identifiers.org/clinvar/215499 ^@ NM_002354.2(EPCAM):c.135A>G (p.Gln45=) http://identifiers.org/clinvar/215811 ^@ NM_002354.2(EPCAM):c.171C>A (p.Val57=) http://identifiers.org/clinvar/215812 ^@ NM_002354.2(EPCAM):c.185-9C>A http://identifiers.org/clinvar/216552 ^@ NM_002354.2(EPCAM):c.203T>G (p.Val68Gly) http://identifiers.org/clinvar/215813 ^@ NM_002354.2(EPCAM):c.304A>G (p.Ser102Gly) http://identifiers.org/clinvar/216554 ^@ NM_002354.2(EPCAM):c.320C>T (p.Ala107Val) http://identifiers.org/clinvar/215500 ^@ NM_002354.2(EPCAM):c.344_345invTG (p.Met115Thr) http://identifiers.org/clinvar/216556 ^@ NM_002354.2(EPCAM):c.380C>T (p.Thr127Ile) http://identifiers.org/clinvar/216557 ^@ NM_002354.2(EPCAM):c.390C>G (p.Asp130Glu) http://identifiers.org/clinvar/215814 ^@ NM_002354.2(EPCAM):c.390C>T (p.Asp130=) http://identifiers.org/clinvar/216558 ^@ NM_002354.2(EPCAM):c.436A>G (p.Ile146Val) http://identifiers.org/clinvar/215501 ^@ NM_002354.2(EPCAM):c.458G>C (p.Arg153Thr) http://identifiers.org/clinvar/215815 ^@ NM_002354.2(EPCAM):c.501G>A (p.Gln167=) http://identifiers.org/clinvar/215816 ^@ NM_002354.2(EPCAM):c.516G>A (p.Thr172=) http://identifiers.org/clinvar/216559 ^@ NM_002354.2(EPCAM):c.518G>A (p.Arg173His) http://identifiers.org/clinvar/216872 ^@ NM_002354.2(EPCAM):c.598_600delTCT (p.Ser200del) http://identifiers.org/clinvar/215502 ^@ NM_002354.2(EPCAM):c.657+10A>G http://identifiers.org/clinvar/216560 ^@ NM_002354.2(EPCAM):c.667G>C (p.Glu223Gln) http://identifiers.org/clinvar/215818 ^@ NM_002354.2(EPCAM):c.762A>G (p.Glu254=) http://identifiers.org/clinvar/216562 ^@ NM_002354.2(EPCAM):c.859-3C>G http://identifiers.org/clinvar/216000 ^@ NM_002354.2(EPCAM):c.859-1G>A http://identifiers.org/clinvar/215819 ^@ NM_002354.2(EPCAM):c.903+7G>T http://identifiers.org/clinvar/215820 ^@ NM_002354.2(EPCAM):c.903+9A>T http://identifiers.org/clinvar/215821 ^@ NM_002354.2(EPCAM):c.904-7G>C http://identifiers.org/clinvar/216861 ^@ NM_000251.2(MSH2):c.115_123delCGGGGCGAC (p.Arg39_Asp41del) http://identifiers.org/clinvar/216052 ^@ NM_000251.2(MSH2):c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs) http://identifiers.org/clinvar/215672 ^@ NM_000251.2(MSH2):c.156G>A (p.Leu52=) http://identifiers.org/clinvar/216347 ^@ NM_000251.2(MSH2):c.199A>G (p.Met67Val) http://identifiers.org/clinvar/216360 ^@ NM_000251.2(MSH2):c.365A>T (p.Lys122Met) http://identifiers.org/clinvar/216361 ^@ NM_000251.2(MSH2):c.470G>C (p.Gly157Ala) http://identifiers.org/clinvar/215674 ^@ NM_000251.2(MSH2):c.726C>T (p.Asn242=) http://identifiers.org/clinvar/215675 ^@ NM_000251.2(MSH2):c.741C>G (p.Gly247=) http://identifiers.org/clinvar/215676 ^@ NM_000251.2(MSH2):c.867T>C (p.Phe289=) http://identifiers.org/clinvar/216863 ^@ NM_000251.2(MSH2):c.912dupT (p.Ala305Cysfs) http://identifiers.org/clinvar/215677 ^@ NM_000251.2(MSH2):c.996G>A (p.Lys332=) http://identifiers.org/clinvar/216341 ^@ NM_000251.2(MSH2):c.1254A>G (p.Ile418Met) http://identifiers.org/clinvar/216342 ^@ NM_000251.2(MSH2):c.1331G>T (p.Arg444Leu) http://identifiers.org/clinvar/216343 ^@ NM_000251.2(MSH2):c.1547G>A (p.Ser516Asn) http://identifiers.org/clinvar/216862 ^@ NM_000251.2(MSH2):c.1661+6dupC http://identifiers.org/clinvar/216320 ^@ NM_000251.2(MSH2):c.1759+3A>T http://identifiers.org/clinvar/216344 ^@ NM_000251.2(MSH2):c.1813G>T (p.Val605Phe) http://identifiers.org/clinvar/216346 ^@ NM_000251.2(MSH2):c.1989G>A (p.Met663Ile) http://identifiers.org/clinvar/216348 ^@ NM_000251.2(MSH2):c.2048G>T (p.Gly683Val) http://identifiers.org/clinvar/216349 ^@ NM_000251.2(MSH2):c.2072T>C (p.Ile691Thr) http://identifiers.org/clinvar/216350 ^@ NM_000251.2(MSH2):c.2197G>A (p.Ala733Thr) http://identifiers.org/clinvar/215673 ^@ NM_000251.2(MSH2):c.2210+7G>T http://identifiers.org/clinvar/216345 ^@ NM_000251.2(MSH2):c.2211-6C>A http://identifiers.org/clinvar/216351 ^@ NM_000251.2(MSH2):c.2211-5T>G http://identifiers.org/clinvar/216352 ^@ NM_000251.2(MSH2):c.2260A>G (p.Thr754Ala) http://identifiers.org/clinvar/216353 ^@ NM_000251.2(MSH2):c.2293G>A (p.Ala765Thr) http://identifiers.org/clinvar/216354 ^@ NM_000251.2(MSH2):c.2379G>T (p.Gln793His) http://identifiers.org/clinvar/216355 ^@ NM_000251.2(MSH2):c.2387C>T (p.Thr796Ile) http://identifiers.org/clinvar/216356 ^@ NM_000251.2(MSH2):c.2591A>C (p.Asp864Ala) http://identifiers.org/clinvar/216358 ^@ NM_000251.2(MSH2):c.2726A>G (p.Lys909Arg) http://identifiers.org/clinvar/216359 ^@ NM_000251.2(MSH2):c.2726A>T (p.Lys909Ile) http://identifiers.org/clinvar/216318 ^@ NM_000179.2(MSH6):c.41C>T (p.Ser14Phe) http://identifiers.org/clinvar/216325 ^@ NM_000179.2(MSH6):c.94G>T (p.Gly32Cys) http://identifiers.org/clinvar/216295 ^@ NM_000179.2(MSH6):c.131C>T (p.Pro44Leu) http://identifiers.org/clinvar/216296 ^@ NM_000179.2(MSH6):c.136G>C (p.Gly46Arg) http://identifiers.org/clinvar/216303 ^@ NM_000179.2(MSH6):c.203A>G (p.Lys68Arg) http://identifiers.org/clinvar/216304 ^@ NM_000179.2(MSH6):c.208A>G (p.Lys70Glu) http://identifiers.org/clinvar/216315 ^@ NM_000179.2(MSH6):c.341C>G (p.Pro114Arg) http://identifiers.org/clinvar/215653 ^@ NM_000179.2(MSH6):c.354A>G (p.Thr118=) http://identifiers.org/clinvar/215657 ^@ NM_000179.2(MSH6):c.381C>T (p.Val127=) http://identifiers.org/clinvar/216319 ^@ NM_000179.2(MSH6):c.521G>A (p.Arg174Lys) http://identifiers.org/clinvar/215661 ^@ NM_000179.2(MSH6):c.627+9C>T http://identifiers.org/clinvar/216321 ^@ NM_000179.2(MSH6):c.643G>A (p.Val215Ile) http://identifiers.org/clinvar/216322 ^@ NM_000179.2(MSH6):c.816A>C (p.Glu272Asp) http://identifiers.org/clinvar/216323 ^@ NM_000179.2(MSH6):c.899G>A (p.Arg300Gln) http://identifiers.org/clinvar/216324 ^@ NM_000179.2(MSH6):c.905G>A (p.Arg302Lys) http://identifiers.org/clinvar/216042 ^@ NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter) http://identifiers.org/clinvar/215639 ^@ NM_000179.2(MSH6):c.1182T>C (p.Ser394=) http://identifiers.org/clinvar/215640 ^@ NM_000179.2(MSH6):c.1206C>T (p.Phe402=) http://identifiers.org/clinvar/216294 ^@ NM_000179.2(MSH6):c.1296T>G (p.Phe432Leu) http://identifiers.org/clinvar/215641 ^@ NM_000179.2(MSH6):c.1410A>G (p.Ser470=) http://identifiers.org/clinvar/216297 ^@ NM_000179.2(MSH6):c.1450G>A (p.Glu484Lys) http://identifiers.org/clinvar/215642 ^@ NM_000179.2(MSH6):c.1581G>A (p.Leu527=) http://identifiers.org/clinvar/216859 ^@ NM_000179.2(MSH6):c.1610_1613delAGTA (p.Lys537Ilefs) http://identifiers.org/clinvar/216298 ^@ NM_000179.2(MSH6):c.1678T>C (p.Phe560Leu) http://identifiers.org/clinvar/216299 ^@ NM_000179.2(MSH6):c.1712G>A (p.Gly571Asp) http://identifiers.org/clinvar/216300 ^@ NM_000179.2(MSH6):c.1723G>T (p.Asp575Tyr) http://identifiers.org/clinvar/216301 ^@ NM_000179.2(MSH6):c.1740G>T (p.Ser580=) http://identifiers.org/clinvar/216043 ^@ NM_000179.2(MSH6):c.1744dupT (p.Arg583Terfs) http://identifiers.org/clinvar/216302 ^@ NM_000179.2(MSH6):c.1894A>G (p.Lys632Glu) http://identifiers.org/clinvar/215643 ^@ NM_000179.2(MSH6):c.2019A>G (p.Pro673=) http://identifiers.org/clinvar/216044 ^@ NM_000179.2(MSH6):c.2089delG (p.Asp697Ilefs) http://identifiers.org/clinvar/216305 ^@ NM_000179.2(MSH6):c.2194C>A (p.Arg732=) http://identifiers.org/clinvar/216307 ^@ NM_000179.2(MSH6):c.2318T>C (p.Leu773Pro) http://identifiers.org/clinvar/215644 ^@ NM_000179.2(MSH6):c.2505G>A (p.Gln835=) http://identifiers.org/clinvar/216308 ^@ NM_000179.2(MSH6):c.2518A>C (p.Ser840Arg) http://identifiers.org/clinvar/215645 ^@ NM_000179.2(MSH6):c.2547A>G (p.Thr849=) http://identifiers.org/clinvar/216309 ^@ NM_000179.2(MSH6):c.2670C>A (p.Val890=) http://identifiers.org/clinvar/215646 ^@ NM_000179.2(MSH6):c.2676T>G (p.Ser892=) http://identifiers.org/clinvar/215647 ^@ NM_000179.2(MSH6):c.2682G>A (p.Gln894=) http://identifiers.org/clinvar/215648 ^@ NM_000179.2(MSH6):c.2685A>T (p.Thr895=) http://identifiers.org/clinvar/215649 ^@ NM_000179.2(MSH6):c.2901A>C (p.Ile967=) http://identifiers.org/clinvar/215650 ^@ NM_000179.2(MSH6):c.3024C>G (p.Thr1008=) http://identifiers.org/clinvar/216310 ^@ NM_000179.2(MSH6):c.3101G>A (p.Arg1034Gln) http://identifiers.org/clinvar/216311 ^@ NM_000179.2(MSH6):c.3104G>A (p.Arg1035Gln) http://identifiers.org/clinvar/216312 ^@ NM_000179.2(MSH6):c.3142C>G (p.Gln1048Glu) http://identifiers.org/clinvar/216313 ^@ NM_000179.2(MSH6):c.3173-11_3173-7delTCTTT http://identifiers.org/clinvar/215651 ^@ NM_000179.2(MSH6):c.3258C>T (p.Pro1086=) http://identifiers.org/clinvar/216314 ^@ NM_000179.2(MSH6):c.3348C>G (p.Gly1116=) http://identifiers.org/clinvar/216045 ^@ NM_000179.2(MSH6):c.3435delA (p.Arg1145Serfs) http://identifiers.org/clinvar/215652 ^@ NM_000179.2(MSH6):c.3439-8A>G http://identifiers.org/clinvar/216306 ^@ NM_000179.2(MSH6):c.3439-7T>G http://identifiers.org/clinvar/215654 ^@ NM_000179.2(MSH6):c.3556+10T>C http://identifiers.org/clinvar/216316 ^@ NM_000179.2(MSH6):c.3619C>T (p.His1207Tyr) http://identifiers.org/clinvar/215655 ^@ NM_000179.2(MSH6):c.3705T>C (p.Leu1235=) http://identifiers.org/clinvar/215656 ^@ NM_000179.2(MSH6):c.3792A>C (p.Leu1264=) http://identifiers.org/clinvar/215660 ^@ NM_000179.2(MSH6):c.4062G>C (p.Leu1354=) http://identifiers.org/clinvar/216317 ^@ NM_000179.2(MSH6):c.4064C>G (p.Thr1355Ser) http://identifiers.org/clinvar/216860 ^@ NM_000179.2(MSH6):c.4079_4080delTA (p.Ter1361Aspfs) http://identifiers.org/clinvar/216702 ^@ NM_018062.3(FANCL):c.884G>A (p.Arg295His) http://identifiers.org/clinvar/216694 ^@ NM_015910.5(WDPCP):c.1729T>G (p.Phe577Val) http://identifiers.org/clinvar/215893 ^@ NM_015910.5(WDPCP):c.985G>A (p.Val329Met) http://identifiers.org/clinvar/216695 ^@ NM_015910.5(WDPCP):c.955T>G (p.Tyr319Asp) http://identifiers.org/clinvar/215892 ^@ NM_015910.5(WDPCP):c.831G>C (p.Leu277=) http://identifiers.org/clinvar/216736 ^@ NM_022912.2(REEP1):c.396G>A (p.Ala132=) http://identifiers.org/clinvar/216476 ^@ NM_000551.3(VHL):c.14C>T (p.Ala5Val) http://identifiers.org/clinvar/216870 ^@ NM_000551.3(VHL):c.123_137delAGAGTCCGGCCCGGA (p.Ser43_Glu47del) http://identifiers.org/clinvar/215765 ^@ NM_000551.3(VHL):c.135G>A (p.Pro45=) http://identifiers.org/clinvar/215766 ^@ NM_000551.3(VHL):c.213C>T (p.Pro71=) http://identifiers.org/clinvar/216477 ^@ NM_000551.3(VHL):c.289C>T (p.Pro97Ser) http://identifiers.org/clinvar/215767 ^@ NM_000551.3(VHL):c.327C>T (p.Ile109=) http://identifiers.org/clinvar/215768 ^@ NM_000551.3(VHL):c.375C>T (p.His125=) http://identifiers.org/clinvar/216478 ^@ NM_000551.3(VHL):c.416C>T (p.Ser139Phe) http://identifiers.org/clinvar/216479 ^@ NM_000551.3(VHL):c.435G>C (p.Gln145His) http://identifiers.org/clinvar/215769 ^@ NM_000551.3(VHL):c.552C>T (p.Leu184=) http://identifiers.org/clinvar/215481 ^@ NM_001023570.3(IQCB1):c.1549A>T (p.Asn517Tyr) http://identifiers.org/clinvar/216488 ^@ NM_001023570.3(IQCB1):c.1046A>G (p.Lys349Arg) http://identifiers.org/clinvar/216136 ^@ NM_153240.4(NPHP3):c.1817G>A (p.Trp606Ter) http://identifiers.org/clinvar/216011 ^@ NM_153240.4(NPHP3):c.988G>A (p.Glu330Lys) http://identifiers.org/clinvar/215528 ^@ NM_020800.2(IFT80):c.2224-10delT http://identifiers.org/clinvar/215529 ^@ NM_020800.2(IFT80):c.2224-10dupT http://identifiers.org/clinvar/216710 ^@ NM_020800.2(IFT80):c.938C>T (p.Thr313Met) http://identifiers.org/clinvar/216139 ^@ NM_181426.1(CCDC39):c.1644delT (p.Asp548Glufs) http://identifiers.org/clinvar/216832 ^@ NM_181426.1(CCDC39):c.1035G>C (p.Arg345Ser) http://identifiers.org/clinvar/216140 ^@ NM_181426.1(CCDC39):c.610-2A>G http://identifiers.org/clinvar/216337 ^@ NM_000249.3(MLH1):c.80G>A (p.Arg27Gln) http://identifiers.org/clinvar/216338 ^@ NM_000249.3(MLH1):c.90T>G (p.Asn30Lys) http://identifiers.org/clinvar/215670 ^@ NM_000249.3(MLH1):c.330G>A (p.Val110=) http://identifiers.org/clinvar/216050 ^@ NM_000249.3(MLH1):c.704_723del20 (p.Lys236Glufs) http://identifiers.org/clinvar/215671 ^@ NM_000249.3(MLH1):c.762G>A (p.Lys254=) http://identifiers.org/clinvar/216339 ^@ NM_000249.3(MLH1):c.920T>C (p.Val307Ala) http://identifiers.org/clinvar/216340 ^@ NM_000249.3(MLH1):c.940G>T (p.Val314Phe) http://identifiers.org/clinvar/215665 ^@ NM_000249.3(MLH1):c.1008C>A (p.Gly336=) http://identifiers.org/clinvar/216328 ^@ NM_000249.3(MLH1):c.1038+8C>T http://identifiers.org/clinvar/215666 ^@ NM_000249.3(MLH1):c.1038+9G>A http://identifiers.org/clinvar/215443 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTA http://identifiers.org/clinvar/215444 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTA http://identifiers.org/clinvar/215445 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTA http://identifiers.org/clinvar/215446 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTA http://identifiers.org/clinvar/215447 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTA http://identifiers.org/clinvar/215448 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTA http://identifiers.org/clinvar/215449 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTA http://identifiers.org/clinvar/215450 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTA http://identifiers.org/clinvar/215451 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTA http://identifiers.org/clinvar/215667 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTA http://identifiers.org/clinvar/215452 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTA http://identifiers.org/clinvar/215453 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTA http://identifiers.org/clinvar/216329 ^@ NM_000249.3(MLH1):c.1067C>T (p.Ser356Phe) http://identifiers.org/clinvar/216330 ^@ NM_000249.3(MLH1):c.1521G>C (p.Leu507Phe) http://identifiers.org/clinvar/216331 ^@ NM_000249.3(MLH1):c.1564C>T (p.Arg522Trp) http://identifiers.org/clinvar/216332 ^@ NM_000249.3(MLH1):c.1582C>T (p.His528Tyr) http://identifiers.org/clinvar/215668 ^@ NM_000249.3(MLH1):c.1587C>T (p.Ser529=) http://identifiers.org/clinvar/216333 ^@ NM_000249.3(MLH1):c.1732G>A (p.Glu578Lys) http://identifiers.org/clinvar/216334 ^@ NM_000249.3(MLH1):c.1850A>C (p.Lys617Thr) http://identifiers.org/clinvar/215669 ^@ NM_000249.3(MLH1):c.1896+7C>T http://identifiers.org/clinvar/216048 ^@ NM_000249.3(MLH1):c.1912G>T (p.Gly638Ter) http://identifiers.org/clinvar/216335 ^@ NM_000249.3(MLH1):c.1935C>G (p.Asn645Lys) http://identifiers.org/clinvar/216336 ^@ NM_000249.3(MLH1):c.1958T>C (p.Leu653Pro) http://identifiers.org/clinvar/216841 ^@ NM_198056.2(SCN5A):c.5849A>G (p.Tyr1950Cys) http://identifiers.org/clinvar/216142 ^@ NM_198056.2(SCN5A):c.4845_4847delCTTinsGTA (p.Tyr1615Ter) http://identifiers.org/clinvar/216141 ^@ NM_198056.2(SCN5A):c.4182C>G (p.Tyr1394Ter) http://identifiers.org/clinvar/216840 ^@ NM_198056.2(SCN5A):c.3947G>T (p.Arg1316Leu) http://identifiers.org/clinvar/216838 ^@ NM_198056.2(SCN5A):c.-7T>G http://identifiers.org/clinvar/216419 ^@ NM_000313.3(PROS1):c.1247C>T (p.Pro416Leu) http://identifiers.org/clinvar/216418 ^@ NM_000313.3(PROS1):c.1183A>G (p.Ile395Val) http://identifiers.org/clinvar/216868 ^@ NM_000313.3(PROS1):c.967delTinsGG (p.Phe323Glyfs) http://identifiers.org/clinvar/215991 ^@ NM_000313.3(PROS1):c.233C>T (p.Thr78Met) http://identifiers.org/clinvar/215729 ^@ NM_000313.3(PROS1):c.76+7A>G http://identifiers.org/clinvar/216538 ^@ NM_001166110.1(PALLD):c.640-?_960+?del http://identifiers.org/clinvar/216526 ^@ NM_001148.4(ANK2):c.6725C>T (p.Thr2242Met) http://identifiers.org/clinvar/215488 ^@ NM_001148.4(ANK2):c.7902G>A (p.Val2634=) http://identifiers.org/clinvar/216527 ^@ NM_001148.4(ANK2):c.8116G>C (p.Glu2706Gln) http://identifiers.org/clinvar/216528 ^@ NM_001148.4(ANK2):c.8144C>T (p.Ser2715Phe) http://identifiers.org/clinvar/215487 ^@ NM_001148.4(ANK2):c.11718G>A (p.Arg3906=) http://identifiers.org/clinvar/215895 ^@ NM_016599.4(MYOZ2):c.561-7C>T http://identifiers.org/clinvar/216137 ^@ NM_176824.2(BBS7):c.1986_1988delGCAinsT (p.Lys662Asnfs) http://identifiers.org/clinvar/216829 ^@ NM_176824.2(BBS7):c.976A>G (p.Ser326Gly) http://identifiers.org/clinvar/216828 ^@ NM_176824.2(BBS7):c.454T>C (p.Cys152Arg) http://identifiers.org/clinvar/216138 ^@ NM_176824.2(BBS7):c.389_390delAC (p.Asn130Thrfs) http://identifiers.org/clinvar/215969 ^@ NM_152618.2(BBS12):c.212A>G (p.Asn71Ser) http://identifiers.org/clinvar/215543 ^@ NM_152618.2(BBS12):c.355G>A (p.Gly119Ser) http://identifiers.org/clinvar/216822 ^@ NM_152618.2(BBS12):c.1459A>G (p.Arg487Gly) http://identifiers.org/clinvar/215779 ^@ NM_001080522.2(CC2D2A):c.576T>C (p.Tyr192=) http://identifiers.org/clinvar/216491 ^@ NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) http://identifiers.org/clinvar/215491 ^@ NM_001166110.1(PALLD):c.78C>T (p.Phe26=) http://identifiers.org/clinvar/216541 ^@ NM_001166110.1(PALLD):c.94C>T (p.Leu32Phe) http://identifiers.org/clinvar/215801 ^@ NM_001166110.1(PALLD):c.123G>A (p.Pro41=) http://identifiers.org/clinvar/216534 ^@ NM_001166110.1(PALLD):c.124G>A (p.Ala42Thr) http://identifiers.org/clinvar/215803 ^@ NM_001166110.1(PALLD):c.231C>T (p.Pro77=) http://identifiers.org/clinvar/215804 ^@ NM_001166110.1(PALLD):c.267G>C (p.Pro89=) http://identifiers.org/clinvar/215805 ^@ NM_001166110.1(PALLD):c.273G>C (p.Pro91=) http://identifiers.org/clinvar/215806 ^@ NM_001166110.1(PALLD):c.276A>C (p.Pro92=) http://identifiers.org/clinvar/216536 ^@ NM_001166110.1(PALLD):c.313C>T (p.Pro105Ser) http://identifiers.org/clinvar/215807 ^@ NM_001166110.1(PALLD):c.327A>G (p.Pro109=) http://identifiers.org/clinvar/215490 ^@ NM_001166110.1(PALLD):c.501C>T (p.Pro167=) http://identifiers.org/clinvar/215808 ^@ NM_001166110.1(PALLD):c.504-9dupA http://identifiers.org/clinvar/216537 ^@ NM_001166110.1(PALLD):c.631G>T (p.Gly211Cys) http://identifiers.org/clinvar/216539 ^@ NM_001166110.1(PALLD):c.736C>G (p.Gln246Glu) http://identifiers.org/clinvar/216540 ^@ NM_001166110.1(PALLD):c.800G>A (p.Arg267Lys) http://identifiers.org/clinvar/216529 ^@ NM_001166110.1(PALLD):c.1001G>A (p.Ser334Asn) http://identifiers.org/clinvar/216530 ^@ NM_001166110.1(PALLD):c.1020A>G (p.Gln340=) http://identifiers.org/clinvar/215800 ^@ NM_001166110.1(PALLD):c.1029C>T (p.Leu343=) http://identifiers.org/clinvar/216531 ^@ NM_001166110.1(PALLD):c.1109A>G (p.Gln370Arg) http://identifiers.org/clinvar/216532 ^@ NM_001166110.1(PALLD):c.1133G>A (p.Arg378Gln) http://identifiers.org/clinvar/216533 ^@ NM_001166110.1(PALLD):c.1163G>A (p.Gly388Asp) http://identifiers.org/clinvar/215489 ^@ NM_001166110.1(PALLD):c.1272T>C (p.Pro424=) http://identifiers.org/clinvar/215802 ^@ NM_001166110.1(PALLD):c.1847-4G>A http://identifiers.org/clinvar/216535 ^@ NM_001166110.1(PALLD):c.1922C>T (p.Ser641Leu) http://identifiers.org/clinvar/216013 ^@ NM_000038.5(APC):c.1409-?_*(1_?)del http://identifiers.org/clinvar/215999 ^@ NM_001369.2(DNAH5):c.(?_-1)_8448+?dup http://identifiers.org/clinvar/216154 ^@ NM_000038.5(APC):c.209A>G (p.Glu70Gly) http://identifiers.org/clinvar/215555 ^@ NM_000038.5(APC):c.228C>T (p.Asn76=) http://identifiers.org/clinvar/215558 ^@ NM_000038.5(APC):c.276C>T (p.Ser92=) http://identifiers.org/clinvar/215561 ^@ NM_000038.5(APC):c.309A>G (p.Val103=) http://identifiers.org/clinvar/216161 ^@ NM_000038.5(APC):c.338T>C (p.Val113Ala) http://identifiers.org/clinvar/216017 ^@ NM_000038.5(APC):c.423G>T (p.Arg141Ser) http://identifiers.org/clinvar/216848 ^@ NM_000038.5(APC):c.453delA (p.Glu152Lysfs) http://identifiers.org/clinvar/215564 ^@ NM_000038.5(APC):c.477C>T (p.Tyr159=) http://identifiers.org/clinvar/215430 ^@ NM_000038.5(APC):c.573T>C (p.Tyr191=) http://identifiers.org/clinvar/215569 ^@ NM_000038.5(APC):c.645+9C>A http://identifiers.org/clinvar/216018 ^@ NM_000038.5(APC):c.791delA (p.Gly265Glufs) http://identifiers.org/clinvar/215572 ^@ NM_000038.5(APC):c.792A>G (p.Gln264=) http://identifiers.org/clinvar/216187 ^@ NM_000038.5(APC):c.841A>T (p.Thr281Ser) http://identifiers.org/clinvar/215574 ^@ NM_000038.5(APC):c.870T>C (p.Ser290=) http://identifiers.org/clinvar/216189 ^@ NM_000038.5(APC):c.943G>T (p.Val315Leu) http://identifiers.org/clinvar/216010 ^@ NM_000038.5(APC):c.1072C>T (p.Gln358Ter) http://identifiers.org/clinvar/216147 ^@ NM_000038.5(APC):c.1111G>C (p.Gly371Arg) http://identifiers.org/clinvar/216148 ^@ NM_000038.5(APC):c.1114A>G (p.Asn372Asp) http://identifiers.org/clinvar/215552 ^@ NM_000038.5(APC):c.1122G>A (p.Arg374=) http://identifiers.org/clinvar/215553 ^@ NM_000038.5(APC):c.1242C>T (p.Arg414=) http://identifiers.org/clinvar/216149 ^@ NM_000038.5(APC):c.1393G>T (p.Ala465Ser) http://identifiers.org/clinvar/216150 ^@ NM_000038.5(APC):c.1440A>T (p.Gln480His) http://identifiers.org/clinvar/216151 ^@ NM_000038.5(APC):c.1606G>A (p.Glu536Lys) http://identifiers.org/clinvar/216152 ^@ NM_000038.5(APC):c.1627-10T>G http://identifiers.org/clinvar/216839 ^@ NM_000038.5(APC):c.1886dupT (p.Leu629Phefs) http://identifiers.org/clinvar/216153 ^@ NM_000038.5(APC):c.2090C>T (p.Ala697Val) http://identifiers.org/clinvar/216155 ^@ NM_000038.5(APC):c.2196T>C (p.Asn732=) http://identifiers.org/clinvar/215554 ^@ NM_000038.5(APC):c.2277C>T (p.Ala759=) http://identifiers.org/clinvar/216156 ^@ NM_000038.5(APC):c.2444A>C (p.Asn815Thr) http://identifiers.org/clinvar/215556 ^@ NM_000038.5(APC):c.2613A>C (p.Gly871=) http://identifiers.org/clinvar/216014 ^@ NM_000038.5(APC):c.2626C>T (p.Arg876Ter) http://identifiers.org/clinvar/216157 ^@ NM_000038.5(APC):c.2650G>A (p.Ala884Thr) http://identifiers.org/clinvar/215557 ^@ NM_000038.5(APC):c.2763A>G (p.Ala921=) http://identifiers.org/clinvar/215559 ^@ NM_000038.5(APC):c.2860T>C (p.Leu954=) http://identifiers.org/clinvar/215560 ^@ NM_000038.5(APC):c.2919T>C (p.Tyr973=) http://identifiers.org/clinvar/216158 ^@ NM_000038.5(APC):c.3136A>G (p.Asn1046Asp) http://identifiers.org/clinvar/216159 ^@ NM_000038.5(APC):c.3299C>T (p.Ser1100Phe) http://identifiers.org/clinvar/216160 ^@ NM_000038.5(APC):c.3341G>A (p.Arg1114Gln) http://identifiers.org/clinvar/216162 ^@ NM_000038.5(APC):c.3436C>T (p.Arg1146Cys) http://identifiers.org/clinvar/215562 ^@ NM_000038.5(APC):c.3786T>C (p.Tyr1262=) http://identifiers.org/clinvar/216016 ^@ NM_000038.5(APC):c.3921_3924delAAAA (p.Ile1307Metfs) http://identifiers.org/clinvar/216163 ^@ NM_000038.5(APC):c.4013A>G (p.Gln1338Arg) http://identifiers.org/clinvar/216164 ^@ NM_000038.5(APC):c.4395T>A (p.Ser1465Arg) http://identifiers.org/clinvar/216165 ^@ NM_000038.5(APC):c.4571T>G (p.Ile1524Arg) http://identifiers.org/clinvar/216166 ^@ NM_000038.5(APC):c.4715T>C (p.Ile1572Thr) http://identifiers.org/clinvar/215563 ^@ NM_000038.5(APC):c.4761A>C (p.Ser1587=) http://identifiers.org/clinvar/216167 ^@ NM_000038.5(APC):c.4928G>A (p.Cys1643Tyr) http://identifiers.org/clinvar/215565 ^@ NM_000038.5(APC):c.4965A>C (p.Thr1655=) http://identifiers.org/clinvar/215566 ^@ NM_000038.5(APC):c.4980A>G (p.Leu1660=) http://identifiers.org/clinvar/216168 ^@ NM_000038.5(APC):c.4987G>A (p.Glu1663Lys) http://identifiers.org/clinvar/215567 ^@ NM_000038.5(APC):c.4989A>G (p.Glu1663=) http://identifiers.org/clinvar/216169 ^@ NM_000038.5(APC):c.5140G>C (p.Asp1714His) http://identifiers.org/clinvar/216170 ^@ NM_000038.5(APC):c.5207A>G (p.Lys1736Arg) http://identifiers.org/clinvar/215568 ^@ NM_000038.5(APC):c.5304G>A (p.Lys1768=) http://identifiers.org/clinvar/216171 ^@ NM_000038.5(APC):c.5420A>G (p.Asp1807Gly) http://identifiers.org/clinvar/216172 ^@ NM_000038.5(APC):c.6071A>G (p.Asn2024Ser) http://identifiers.org/clinvar/216849 ^@ NM_000038.5(APC):c.6085_6093dupTCTCTTAGT (p.Ser2031_Ile2032insSerLeuSer) http://identifiers.org/clinvar/216173 ^@ NM_000038.5(APC):c.6203T>C (p.Met2068Thr) http://identifiers.org/clinvar/216174 ^@ NM_000038.5(APC):c.6751C>T (p.Pro2251Ser) http://identifiers.org/clinvar/216175 ^@ NM_000038.5(APC):c.6818G>A (p.Gly2273Glu) http://identifiers.org/clinvar/216176 ^@ NM_000038.5(APC):c.6959C>T (p.Pro2320Leu) http://identifiers.org/clinvar/215431 ^@ NM_000038.5(APC):c.7137C>G (p.Thr2379=) http://identifiers.org/clinvar/215570 ^@ NM_000038.5(APC):c.7194C>T (p.Ser2398=) http://identifiers.org/clinvar/216177 ^@ NM_000038.5(APC):c.7324A>G (p.Thr2442Ala) http://identifiers.org/clinvar/216178 ^@ NM_000038.5(APC):c.7400C>T (p.Pro2467Leu) http://identifiers.org/clinvar/215571 ^@ NM_000038.5(APC):c.7404A>G (p.Ser2468=) http://identifiers.org/clinvar/216179 ^@ NM_000038.5(APC):c.7657A>C (p.Lys2553Gln) http://identifiers.org/clinvar/216180 ^@ NM_000038.5(APC):c.7843A>G (p.Ile2615Val) http://identifiers.org/clinvar/216181 ^@ NM_000038.5(APC):c.7852A>G (p.Asn2618Asp) http://identifiers.org/clinvar/216182 ^@ NM_000038.5(APC):c.7979G>A (p.Arg2660Lys) http://identifiers.org/clinvar/216183 ^@ NM_000038.5(APC):c.8017A>G (p.Arg2673Gly) http://identifiers.org/clinvar/216184 ^@ NM_000038.5(APC):c.8213T>C (p.Ile2738Thr) http://identifiers.org/clinvar/216185 ^@ NM_000038.5(APC):c.8275C>T (p.Arg2759Cys) http://identifiers.org/clinvar/216186 ^@ NM_000038.5(APC):c.8321G>C (p.Ser2774Thr) http://identifiers.org/clinvar/215573 ^@ NM_000038.5(APC):c.8325G>A (p.Gly2775=) http://identifiers.org/clinvar/216188 ^@ NM_000038.5(APC):c.8462A>G (p.Asp2821Gly) http://identifiers.org/clinvar/216617 ^@ NM_005732.3(RAD50):c.123A>T (p.Gly41=) http://identifiers.org/clinvar/215852 ^@ NM_005732.3(RAD50):c.135C>T (p.Ile45=) http://identifiers.org/clinvar/216627 ^@ NM_005732.3(RAD50):c.281T>G (p.Ile94Arg) http://identifiers.org/clinvar/216628 ^@ NM_005732.3(RAD50):c.323A>G (p.Lys108Arg) http://identifiers.org/clinvar/216633 ^@ NM_005732.3(RAD50):c.973T>C (p.Cys325Arg) http://identifiers.org/clinvar/215851 ^@ NM_005732.3(RAD50):c.1052-6T>C http://identifiers.org/clinvar/216616 ^@ NM_005732.3(RAD50):c.1164C>G (p.Phe388Leu) http://identifiers.org/clinvar/216618 ^@ NM_005732.3(RAD50):c.1406G>C (p.Gly469Ala) http://identifiers.org/clinvar/215853 ^@ NM_005732.3(RAD50):c.1453-9A>G http://identifiers.org/clinvar/216619 ^@ NM_005732.3(RAD50):c.1457G>A (p.Arg486His) http://identifiers.org/clinvar/215854 ^@ NM_005732.3(RAD50):c.1527T>C (p.Asn509=) http://identifiers.org/clinvar/216620 ^@ NM_005732.3(RAD50):c.1565A>G (p.Asp522Gly) http://identifiers.org/clinvar/216621 ^@ NM_005732.3(RAD50):c.1793+4A>C http://identifiers.org/clinvar/215855 ^@ NM_005732.3(RAD50):c.1970-7A>C http://identifiers.org/clinvar/215856 ^@ NM_005732.3(RAD50):c.1989A>G (p.Thr663=) http://identifiers.org/clinvar/216622 ^@ NM_005732.3(RAD50):c.2104C>A (p.Gln702Lys) http://identifiers.org/clinvar/216623 ^@ NM_005732.3(RAD50):c.2468G>A (p.Arg823Gln) http://identifiers.org/clinvar/216624 ^@ NM_005732.3(RAD50):c.2522C>T (p.Thr841Ile) http://identifiers.org/clinvar/216096 ^@ NM_005732.3(RAD50):c.2707delA (p.Arg903Glufs) http://identifiers.org/clinvar/216625 ^@ NM_005732.3(RAD50):c.2718+6A>G http://identifiers.org/clinvar/216626 ^@ NM_005732.3(RAD50):c.2813A>G (p.Lys938Arg) http://identifiers.org/clinvar/215857 ^@ NM_005732.3(RAD50):c.2820A>G (p.Ala940=) http://identifiers.org/clinvar/215858 ^@ NM_005732.3(RAD50):c.2937A>G (p.Glu979=) http://identifiers.org/clinvar/215859 ^@ NM_005732.3(RAD50):c.3054A>G (p.Leu1018=) http://identifiers.org/clinvar/215509 ^@ NM_005732.3(RAD50):c.3165-8T>G http://identifiers.org/clinvar/216629 ^@ NM_005732.3(RAD50):c.3298G>T (p.Ala1100Ser) http://identifiers.org/clinvar/215860 ^@ NM_005732.3(RAD50):c.3522A>T (p.Ser1174=) http://identifiers.org/clinvar/216097 ^@ NM_005732.3(RAD50):c.3553C>T (p.Arg1185Ter) http://identifiers.org/clinvar/215861 ^@ NM_005732.3(RAD50):c.3752+7A>G http://identifiers.org/clinvar/216630 ^@ NM_005732.3(RAD50):c.3772C>G (p.Gln1258Glu) http://identifiers.org/clinvar/216631 ^@ NM_005732.3(RAD50):c.3842A>C (p.Glu1281Ala) http://identifiers.org/clinvar/216632 ^@ NM_005732.3(RAD50):c.3931G>A (p.Val1311Ile) http://identifiers.org/clinvar/216084 ^@ NM_001369.2(DNAH5):c.13126-2A>C http://identifiers.org/clinvar/215492 ^@ NM_001369.2(DNAH5):c.13062G>A (p.Ala4354=) http://identifiers.org/clinvar/215809 ^@ NM_001369.2(DNAH5):c.11586G>C (p.Pro3862=) http://identifiers.org/clinvar/216542 ^@ NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) http://identifiers.org/clinvar/215810 ^@ NM_001369.2(DNAH5):c.9891A>G (p.Ala3297=) http://identifiers.org/clinvar/216085 ^@ NM_001369.2(DNAH5):c.9502C>T (p.Arg3168Ter) http://identifiers.org/clinvar/216544 ^@ NM_001369.2(DNAH5):c.8948C>T (p.Thr2983Met) http://identifiers.org/clinvar/215495 ^@ NM_001369.2(DNAH5):c.4509C>T (p.Thr1503=) http://identifiers.org/clinvar/215494 ^@ NM_001369.2(DNAH5):c.3835-3delT http://identifiers.org/clinvar/215493 ^@ NM_001369.2(DNAH5):c.3112G>A (p.Val1038Met) http://identifiers.org/clinvar/216543 ^@ NM_001369.2(DNAH5):c.1792G>A (p.Ala598Thr) http://identifiers.org/clinvar/215924 ^@ NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) http://identifiers.org/clinvar/216739 ^@ NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) http://identifiers.org/clinvar/216119 ^@ NM_024577.3(SH3TC2):c.1662delC (p.Ile555Serfs) http://identifiers.org/clinvar/216005 ^@ NM_024577.3(SH3TC2):c.1586_1587delGTinsAG (p.Arg529Gln) http://identifiers.org/clinvar/216738 ^@ NM_024577.3(SH3TC2):c.1585_1587delCGTinsTGG (p.Arg529Trp) http://identifiers.org/clinvar/215534 ^@ NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) http://identifiers.org/clinvar/216737 ^@ NM_024577.3(SH3TC2):c.1402_1403delGCinsTT (p.Ala468Phe) http://identifiers.org/clinvar/215925 ^@ NM_024577.3(SH3TC2):c.529+10G>A http://identifiers.org/clinvar/216120 ^@ NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) http://identifiers.org/clinvar/215478 ^@ NM_000816.3(GABRG2):c.409T>C (p.Leu137=) http://identifiers.org/clinvar/216681 ^@ NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) http://identifiers.org/clinvar/216487 ^@ NM_001010892.2(RSPH4A):c.91_92delTCinsCT (p.Ser31Leu) http://identifiers.org/clinvar/215480 ^@ NM_001010892.2(RSPH4A):c.1917-4A>G http://identifiers.org/clinvar/216697 ^@ NM_017651.4(AHI1):c.3418C>T (p.Pro1140Ser) http://identifiers.org/clinvar/215522 ^@ NM_017651.4(AHI1):c.989A>G (p.Asp330Gly) http://identifiers.org/clinvar/216425 ^@ NM_000410.3(HFE):c.18G>C (p.Arg6Ser) http://identifiers.org/clinvar/216823 ^@ NM_152732.4(RSPH9):c.798C>T (p.Gly266=) http://identifiers.org/clinvar/216821 ^@ NM_138694.3(PKHD1):c.12110T>C (p.Leu4037Pro) http://identifiers.org/clinvar/216820 ^@ NM_138694.3(PKHD1):c.11338C>T (p.Pro3780Ser) http://identifiers.org/clinvar/215542 ^@ NM_138694.3(PKHD1):c.8581A>G (p.Ser2861Gly) http://identifiers.org/clinvar/216135 ^@ NM_138694.3(PKHD1):c.7560dupT (p.Ala2521Cysfs) http://identifiers.org/clinvar/215967 ^@ NM_138694.3(PKHD1):c.2726G>A (p.Arg909Gln) http://identifiers.org/clinvar/216143 ^@ NM_198428.2(BBS9):c.(?_-1)_328+?del http://identifiers.org/clinvar/216447 ^@ NM_000535.6(PMS2):c.(?_-1)_2006+?dup http://identifiers.org/clinvar/215505 ^@ NM_003227.3(TFR2):c.135G>A (p.Ala45=) http://identifiers.org/clinvar/215784 ^@ NM_001127500.2(MET):c.-7T>C http://identifiers.org/clinvar/216496 ^@ NM_001127500.2(MET):c.109G>T (p.Val37Leu) http://identifiers.org/clinvar/216497 ^@ NM_001127500.2(MET):c.114T>A (p.Asn38Lys) http://identifiers.org/clinvar/216503 ^@ NM_001127500.2(MET):c.199A>T (p.Thr67Ser) http://identifiers.org/clinvar/216511 ^@ NM_001127500.2(MET):c.465G>T (p.Gln155His) http://identifiers.org/clinvar/215486 ^@ NM_001127500.2(MET):c.468G>A (p.Ser156=) http://identifiers.org/clinvar/216512 ^@ NM_001127500.2(MET):c.522C>G (p.Asp174Glu) http://identifiers.org/clinvar/216513 ^@ NM_001127500.2(MET):c.632T>G (p.Leu211Trp) http://identifiers.org/clinvar/216514 ^@ NM_001127500.2(MET):c.665C>T (p.Thr222Met) http://identifiers.org/clinvar/215794 ^@ NM_001127500.2(MET):c.669A>G (p.Lys223=) http://identifiers.org/clinvar/216515 ^@ NM_001127500.2(MET):c.670G>T (p.Asp224Tyr) http://identifiers.org/clinvar/215795 ^@ NM_001127500.2(MET):c.939G>A (p.Val313=) http://identifiers.org/clinvar/215785 ^@ NM_001127500.2(MET):c.1170C>T (p.Tyr390=) http://identifiers.org/clinvar/216498 ^@ NM_001127500.2(MET):c.1444G>A (p.Asp482Asn) http://identifiers.org/clinvar/216499 ^@ NM_001127500.2(MET):c.1451A>G (p.His484Arg) http://identifiers.org/clinvar/216500 ^@ NM_001127500.2(MET):c.1472T>C (p.Ile491Thr) http://identifiers.org/clinvar/215786 ^@ NM_001127500.2(MET):c.1485A>G (p.Thr495=) http://identifiers.org/clinvar/215787 ^@ NM_001127500.2(MET):c.1626C>T (p.His542=) http://identifiers.org/clinvar/216501 ^@ NM_001127500.2(MET):c.1644G>A (p.Ser548=) http://identifiers.org/clinvar/216502 ^@ NM_001127500.2(MET):c.1770T>G (p.Phe590Leu) http://identifiers.org/clinvar/215788 ^@ NM_001127500.2(MET):c.2391G>A (p.Val797=) http://identifiers.org/clinvar/215789 ^@ NM_001127500.2(MET):c.2670T>C (p.Gly890=) http://identifiers.org/clinvar/215790 ^@ NM_001127500.2(MET):c.2712C>T (p.His904=) http://identifiers.org/clinvar/215791 ^@ NM_001127500.2(MET):c.2769C>T (p.Ser923=) http://identifiers.org/clinvar/215792 ^@ NM_001127500.2(MET):c.2967C>T (p.Tyr989=) http://identifiers.org/clinvar/216504 ^@ NM_001127500.2(MET):c.3084T>A (p.Asp1028Glu) http://identifiers.org/clinvar/216505 ^@ NM_001127500.2(MET):c.3119G>T (p.Arg1040Leu) http://identifiers.org/clinvar/216506 ^@ NM_001127500.2(MET):c.3290A>G (p.His1097Arg) http://identifiers.org/clinvar/216507 ^@ NM_001127500.2(MET):c.3551G>A (p.Arg1184Gln) http://identifiers.org/clinvar/216508 ^@ NM_001127500.2(MET):c.3575A>G (p.His1192Arg) http://identifiers.org/clinvar/215485 ^@ NM_001127500.2(MET):c.3603C>T (p.Gly1201=) http://identifiers.org/clinvar/215793 ^@ NM_001127500.2(MET):c.3687-7T>C http://identifiers.org/clinvar/216509 ^@ NM_001127500.2(MET):c.4111A>G (p.Asn1371Asp) http://identifiers.org/clinvar/216510 ^@ NM_001127500.2(MET):c.4129G>A (p.Val1377Ile) http://identifiers.org/clinvar/215752 ^@ NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) http://identifiers.org/clinvar/216585 ^@ NM_004333.4(BRAF):c.1022C>A (p.Pro341Gln) http://identifiers.org/clinvar/216327 ^@ NM_000238.3(KCNH2):c.2739G>A (p.Ala913=) http://identifiers.org/clinvar/216326 ^@ NM_000238.3(KCNH2):c.2405A>G (p.Asn802Ser) http://identifiers.org/clinvar/215441 ^@ NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) http://identifiers.org/clinvar/215664 ^@ NM_000238.3(KCNH2):c.729C>T (p.Ser243=) http://identifiers.org/clinvar/216047 ^@ NM_000238.3(KCNH2):c.473_501dup29 (p.Pro168Alafs) http://identifiers.org/clinvar/215663 ^@ NM_000238.3(KCNH2):c.27G>T (p.Ala9=) http://identifiers.org/clinvar/215427 ^@ NM_001277115.1(DNAH11):c.661A>T (p.Met221Leu) http://identifiers.org/clinvar/215550 ^@ NM_001277115.1(DNAH11):c.1710+8C>G http://identifiers.org/clinvar/216146 ^@ NM_001277115.1(DNAH11):c.3183C>T (p.Ser1061=) http://identifiers.org/clinvar/215551 ^@ NM_001277115.1(DNAH11):c.11457C>T (p.Pro3819=) http://identifiers.org/clinvar/215428 ^@ NM_001277115.1(DNAH11):c.12644T>C (p.Ile4215Thr) http://identifiers.org/clinvar/216550 ^@ NM_002047.3(GARS):c.1852G>A (p.Val618Ile) http://identifiers.org/clinvar/215978 ^@ NM_198428.2(BBS9):c.887-7C>T http://identifiers.org/clinvar/216144 ^@ NM_198428.2(BBS9):c.1370T>A (p.Leu457Ter) http://identifiers.org/clinvar/216145 ^@ NM_198428.2(BBS9):c.1423G>T (p.Glu475Ter) http://identifiers.org/clinvar/216843 ^@ NM_198428.2(BBS9):c.1486A>G (p.Thr496Ala) http://identifiers.org/clinvar/215976 ^@ NM_198428.2(BBS9):c.1767T>C (p.Thr589=) http://identifiers.org/clinvar/216844 ^@ NM_198428.2(BBS9):c.2309A>G (p.Glu770Gly) http://identifiers.org/clinvar/215977 ^@ NM_198428.2(BBS9):c.2646C>A (p.Leu882=) http://identifiers.org/clinvar/215757 ^@ NM_000535.6(PMS2):c.2538A>G (p.Gly846=) http://identifiers.org/clinvar/215756 ^@ NM_000535.6(PMS2):c.2166G>A (p.Arg722=) http://identifiers.org/clinvar/215755 ^@ NM_000535.6(PMS2):c.2085C>T (p.Ile695=) http://identifiers.org/clinvar/215754 ^@ NM_000535.6(PMS2):c.2007-6C>G http://identifiers.org/clinvar/216455 ^@ NM_000535.6(PMS2):c.1733G>A (p.Arg578His) http://identifiers.org/clinvar/216454 ^@ NM_000535.6(PMS2):c.1726A>T (p.Thr576Ser) http://identifiers.org/clinvar/216869 ^@ NM_000535.6(PMS2):c.1673_1674invCC (p.Thr558Arg) http://identifiers.org/clinvar/216453 ^@ NM_000535.6(PMS2):c.1642G>A (p.Asp548Asn) http://identifiers.org/clinvar/216075 ^@ NM_000535.6(PMS2):c.1638_1639delTT (p.Ser547Argfs) http://identifiers.org/clinvar/215753 ^@ NM_000535.6(PMS2):c.1632C>T (p.Asp544=) http://identifiers.org/clinvar/216452 ^@ NM_000535.6(PMS2):c.1578C>G (p.Asp526Glu) http://identifiers.org/clinvar/216074 ^@ NM_000535.6(PMS2):c.1576delG (p.Asp526Thrfs) http://identifiers.org/clinvar/216451 ^@ NM_000535.6(PMS2):c.1555T>C (p.Tyr519His) http://identifiers.org/clinvar/216450 ^@ NM_000535.6(PMS2):c.1435C>G (p.His479Asp) http://identifiers.org/clinvar/216073 ^@ NM_000535.6(PMS2):c.1297A>T (p.Lys433Ter) http://identifiers.org/clinvar/216072 ^@ NM_000535.6(PMS2):c.1239dupA (p.Asp414Argfs) http://identifiers.org/clinvar/216448 ^@ NM_000535.6(PMS2):c.1186A>G (p.Met396Val) http://identifiers.org/clinvar/215759 ^@ NM_000535.6(PMS2):c.935T>C (p.Met312Thr) http://identifiers.org/clinvar/216460 ^@ NM_000535.6(PMS2):c.542A>T (p.Tyr181Phe) http://identifiers.org/clinvar/216459 ^@ NM_000535.6(PMS2):c.541T>C (p.Tyr181His) http://identifiers.org/clinvar/215994 ^@ NM_000535.6(PMS2):c.537+1G>A http://identifiers.org/clinvar/216458 ^@ NM_000535.6(PMS2):c.531T>G (p.Ile177Met) http://identifiers.org/clinvar/215758 ^@ NM_000535.6(PMS2):c.465C>A (p.Thr155=) http://identifiers.org/clinvar/216457 ^@ NM_000535.6(PMS2):c.412G>C (p.Asp138His) http://identifiers.org/clinvar/216456 ^@ NM_000535.6(PMS2):c.240C>G (p.Phe80Leu) http://identifiers.org/clinvar/216449 ^@ NM_000535.6(PMS2):c.123_131delGTTAGTAGA (p.Leu42_Glu44del) http://identifiers.org/clinvar/216461 ^@ NM_000535.6(PMS2):c.58C>T (p.Arg20Trp) http://identifiers.org/clinvar/216462 ^@ NM_000535.6(PMS2):c.8G>A (p.Arg3Gln) http://identifiers.org/clinvar/216545 ^@ NM_001540.3(HSPB1):c.610G>A (p.Ala204Thr) http://identifiers.org/clinvar/215476 ^@ NM_000722.3(CACNA2D1):c.3160-9dupT http://identifiers.org/clinvar/215475 ^@ NM_000722.3(CACNA2D1):c.1956-5_1956-4dupTT http://identifiers.org/clinvar/215773 ^@ NM_000722.3(CACNA2D1):c.498C>T (p.Val166=) http://identifiers.org/clinvar/215477 ^@ NM_000722.3(CACNA2D1):c.355-5dupT http://identifiers.org/clinvar/216635 ^@ NM_005751.4(AKAP9):c.1396C>T (p.Arg466Trp) http://identifiers.org/clinvar/215512 ^@ NM_005751.4(AKAP9):c.5283T>C (p.Ser1761=) http://identifiers.org/clinvar/215513 ^@ NM_005751.4(AKAP9):c.6249C>T (p.Phe2083=) http://identifiers.org/clinvar/215511 ^@ NM_005751.4(AKAP9):c.10197T>C (p.Thr3399=) http://identifiers.org/clinvar/216634 ^@ NM_005751.4(AKAP9):c.10641C>A (p.Phe3547Leu) http://identifiers.org/clinvar/216001 ^@ NM_002485.4(NBN):c.2185-?_*(1_?)del http://identifiers.org/clinvar/216087 ^@ NM_002485.4(NBN):c.897-?_2184+?del http://identifiers.org/clinvar/216683 ^@ NM_014846.3(WASHC5):c.2430G>C (p.Lys810Asn) http://identifiers.org/clinvar/216682 ^@ NM_014846.3(WASHC5):c.161T>C (p.Ile54Thr) http://identifiers.org/clinvar/215862 ^@ NM_006096.3(NDRG1):c.1152C>T (p.Ser384=) http://identifiers.org/clinvar/216636 ^@ NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) http://identifiers.org/clinvar/215863 ^@ NM_006096.3(NDRG1):c.69C>A (p.Ile23=) http://identifiers.org/clinvar/216637 ^@ NM_006096.3(NDRG1):c.63+6T>C http://identifiers.org/clinvar/215825 ^@ NM_003923.2(FOXH1):c.15C>T (p.Ser5=) http://identifiers.org/clinvar/215429 ^@ NM_006158.4(NEFL):c.1407G>A (p.Glu469=) http://identifiers.org/clinvar/216115 ^@ NM_017780.3(CHD7):c.1504delC (p.Pro502Leufs) http://identifiers.org/clinvar/216116 ^@ NM_017780.3(CHD7):c.3678delC (p.Phe1226Leufs) http://identifiers.org/clinvar/216875 ^@ NM_017780.3(CHD7):c.7663delA (p.Arg2555Glufs) http://identifiers.org/clinvar/216598 ^@ NM_004820.4(CYP7B1):c.619A>G (p.Lys207Glu) http://identifiers.org/clinvar/216706 ^@ NM_018972.2(GDAP1):c.169A>C (p.Ser57Arg) http://identifiers.org/clinvar/216707 ^@ NM_018972.2(GDAP1):c.556A>G (p.Ile186Val) http://identifiers.org/clinvar/216567 ^@ NM_002485.4(NBN):c.1979G>C (p.Arg660Thr) http://identifiers.org/clinvar/216566 ^@ NM_002485.4(NBN):c.1880A>T (p.Lys627Met) http://identifiers.org/clinvar/216565 ^@ NM_002485.4(NBN):c.1559A>G (p.Asn520Ser) http://identifiers.org/clinvar/216564 ^@ NM_002485.4(NBN):c.1484C>T (p.Pro495Leu) http://identifiers.org/clinvar/216563 ^@ NM_002485.4(NBN):c.1247T>C (p.Met416Thr) http://identifiers.org/clinvar/216569 ^@ NM_002485.4(NBN):c.854G>C (p.Cys285Ser) http://identifiers.org/clinvar/215824 ^@ NM_002485.4(NBN):c.441C>T (p.Cys147=) http://identifiers.org/clinvar/216086 ^@ NM_002485.4(NBN):c.211_212insGA (p.Asn71Argfs) http://identifiers.org/clinvar/215823 ^@ NM_002485.4(NBN):c.38-7A>G http://identifiers.org/clinvar/215822 ^@ NM_002485.4(NBN):c.37+10G>C http://identifiers.org/clinvar/216568 ^@ NM_002485.4(NBN):c.37+6G>T http://identifiers.org/clinvar/215970 ^@ NM_153704.5(TMEM67):c.186T>C (p.Cys62=) http://identifiers.org/clinvar/216826 ^@ NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) http://identifiers.org/clinvar/216824 ^@ NM_153704.5(TMEM67):c.1426C>T (p.Pro476Ser) http://identifiers.org/clinvar/216825 ^@ NM_153704.5(TMEM67):c.1674+5A>T http://identifiers.org/clinvar/215878 ^@ NM_014425.4(INVS):c.2247G>A (p.Arg749=) http://identifiers.org/clinvar/215514 ^@ NM_014425.4(INVS):c.2803C>T (p.His935Tyr) http://identifiers.org/clinvar/216708 ^@ NM_019892.5(INPP5E):c.1919T>C (p.Ile640Thr) http://identifiers.org/clinvar/215526 ^@ NM_019892.5(INPP5E):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG http://identifiers.org/clinvar/216271 ^@ NM_000077.4(CDKN2A):c.*9G>T http://identifiers.org/clinvar/215633 ^@ NM_000077.4(CDKN2A):c.468T>C (p.Asp156=) http://identifiers.org/clinvar/216035 ^@ NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr) http://identifiers.org/clinvar/216276 ^@ NM_000077.4(CDKN2A):c.415G>C (p.Gly139Arg) http://identifiers.org/clinvar/216275 ^@ NM_000077.4(CDKN2A):c.322G>A (p.Asp108Asn) http://identifiers.org/clinvar/216274 ^@ NM_000077.4(CDKN2A):c.301G>C (p.Gly101Arg) http://identifiers.org/clinvar/216273 ^@ NM_000077.4(CDKN2A):c.200G>A (p.Gly67Asp) http://identifiers.org/clinvar/216272 ^@ NM_000077.4(CDKN2A):c.199G>C (p.Gly67Arg) http://identifiers.org/clinvar/215440 ^@ NM_000077.4(CDKN2A):c.51C>A (p.Ala17=) http://identifiers.org/clinvar/216277 ^@ NM_000077.4(CDKN2A):c.9_32del24 (p.Ala4_Pro11del) http://identifiers.org/clinvar/216677 ^@ NM_012144.3(DNAI1):c.1948C>T (p.Arg650Cys) http://identifiers.org/clinvar/216091 ^@ NM_004629.1(FANCG):c.156dupG (p.Leu53Alafs) http://identifiers.org/clinvar/216286 ^@ NM_000136.2(FANCC):c.1669C>G (p.Gln557Glu) http://identifiers.org/clinvar/215637 ^@ NM_000136.2(FANCC):c.1623T>G (p.Pro541=) http://identifiers.org/clinvar/216285 ^@ NM_000136.2(FANCC):c.1595G>A (p.Arg532Lys) http://identifiers.org/clinvar/216284 ^@ NM_000136.2(FANCC):c.1589T>C (p.Leu530Ser) http://identifiers.org/clinvar/215636 ^@ NM_000136.2(FANCC):c.1533+9C>T http://identifiers.org/clinvar/216283 ^@ NM_000136.2(FANCC):c.1368G>T (p.Met456Ile) http://identifiers.org/clinvar/215635 ^@ NM_000136.2(FANCC):c.1344C>T (p.Ala448=) http://identifiers.org/clinvar/216282 ^@ NM_000136.2(FANCC):c.1262C>G (p.Ala421Gly) http://identifiers.org/clinvar/216281 ^@ NM_000136.2(FANCC):c.1048A>G (p.Met350Val) http://identifiers.org/clinvar/216280 ^@ NM_000136.2(FANCC):c.1024C>G (p.Pro342Ala) http://identifiers.org/clinvar/216279 ^@ NM_000136.2(FANCC):c.1000C>T (p.Arg334Trp) http://identifiers.org/clinvar/215982 ^@ NM_000136.2(FANCC):c.896+2T>G http://identifiers.org/clinvar/216291 ^@ NM_000136.2(FANCC):c.843+5G>A http://identifiers.org/clinvar/216290 ^@ NM_000136.2(FANCC):c.668T>C (p.Val223Ala) http://identifiers.org/clinvar/216289 ^@ NM_000136.2(FANCC):c.565C>G (p.Pro189Ala) http://identifiers.org/clinvar/216288 ^@ NM_000136.2(FANCC):c.549G>T (p.Leu183=) http://identifiers.org/clinvar/216037 ^@ NM_000136.2(FANCC):c.489_490delGA (p.Asn164Serfs) http://identifiers.org/clinvar/215638 ^@ NM_000136.2(FANCC):c.346-11_346-10delAT http://identifiers.org/clinvar/216287 ^@ NM_000136.2(FANCC):c.28T>G (p.Cys10Gly) http://identifiers.org/clinvar/216858 ^@ NM_000136.2(FANCC):c.-2A>G http://identifiers.org/clinvar/216390 ^@ NM_000264.3(PTCH1):c.4321C>T (p.Pro1441Ser) http://identifiers.org/clinvar/216389 ^@ NM_000264.3(PTCH1):c.4240G>A (p.Val1414Met) http://identifiers.org/clinvar/215704 ^@ NM_000264.3(PTCH1):c.4230G>A (p.Glu1410=) http://identifiers.org/clinvar/216388 ^@ NM_000264.3(PTCH1):c.4141G>A (p.Val1381Met) http://identifiers.org/clinvar/215461 ^@ NM_000264.3(PTCH1):c.4048C>T (p.Arg1350Trp) http://identifiers.org/clinvar/216387 ^@ NM_000264.3(PTCH1):c.4034G>A (p.Arg1345His) http://identifiers.org/clinvar/215460 ^@ NM_000264.3(PTCH1):c.3963C>T (p.Asp1321=) http://identifiers.org/clinvar/215703 ^@ NM_000264.3(PTCH1):c.3954G>A (p.Pro1318=) http://identifiers.org/clinvar/216386 ^@ NM_000264.3(PTCH1):c.3913G>A (p.Asp1305Asn) http://identifiers.org/clinvar/215701 ^@ NM_000264.3(PTCH1):c.3846G>A (p.Pro1282=) http://identifiers.org/clinvar/215700 ^@ NM_000264.3(PTCH1):c.3816C>T (p.Pro1272=) http://identifiers.org/clinvar/216384 ^@ NM_000264.3(PTCH1):c.3716G>A (p.Arg1239Gln) http://identifiers.org/clinvar/215459 ^@ NM_000264.3(PTCH1):c.3633C>G (p.Pro1211=) http://identifiers.org/clinvar/216383 ^@ NM_000264.3(PTCH1):c.3629C>T (p.Pro1210Leu) http://identifiers.org/clinvar/215986 ^@ NM_000264.3(PTCH1):c.3450-2A>G http://identifiers.org/clinvar/215699 ^@ NM_000264.3(PTCH1):c.3449+7A>T http://identifiers.org/clinvar/215985 ^@ NM_000264.3(PTCH1):c.3449+1G>A http://identifiers.org/clinvar/215698 ^@ NM_000264.3(PTCH1):c.3429T>C (p.Ser1143=) http://identifiers.org/clinvar/216382 ^@ NM_000264.3(PTCH1):c.3423G>A (p.Ala1141=) http://identifiers.org/clinvar/216381 ^@ NM_000264.3(PTCH1):c.3388G>A (p.Ala1130Thr) http://identifiers.org/clinvar/216380 ^@ NM_000264.3(PTCH1):c.3347T>A (p.Val1116Glu) http://identifiers.org/clinvar/215696 ^@ NM_000264.3(PTCH1):c.3018G>A (p.Leu1006=) http://identifiers.org/clinvar/216379 ^@ NM_000264.3(PTCH1):c.2933T>C (p.Leu978Pro) http://identifiers.org/clinvar/215458 ^@ NM_000264.3(PTCH1):c.2888-8C>T http://identifiers.org/clinvar/216057 ^@ NM_000264.3(PTCH1):c.2842_2849delTGGGTCCA (p.Trp948Argfs) http://identifiers.org/clinvar/215457 ^@ NM_000264.3(PTCH1):c.2799G>A (p.Ala933=) http://identifiers.org/clinvar/216056 ^@ NM_000264.3(PTCH1):c.2799delG (p.Tyr934Metfs) http://identifiers.org/clinvar/215695 ^@ NM_000264.3(PTCH1):c.2704-6T>C http://identifiers.org/clinvar/215694 ^@ NM_000264.3(PTCH1):c.2692G>A (p.Asp898Asn) http://identifiers.org/clinvar/216378 ^@ NM_000264.3(PTCH1):c.2635G>A (p.Asp879Asn) http://identifiers.org/clinvar/216377 ^@ NM_000264.3(PTCH1):c.2597G>A (p.Gly866Glu) http://identifiers.org/clinvar/215693 ^@ NM_000264.3(PTCH1):c.2561-10C>T http://identifiers.org/clinvar/215692 ^@ NM_000264.3(PTCH1):c.2560+9_2560+10delGCinsCT http://identifiers.org/clinvar/215691 ^@ NM_000264.3(PTCH1):c.2560+8_2560+9delGGinsAC http://identifiers.org/clinvar/215690 ^@ NM_000264.3(PTCH1):c.2541C>T (p.Tyr847=) http://identifiers.org/clinvar/215689 ^@ NM_000264.3(PTCH1):c.2319C>T (p.Asp773=) http://identifiers.org/clinvar/215688 ^@ NM_000264.3(PTCH1):c.2272C>T (p.Leu758=) http://identifiers.org/clinvar/215687 ^@ NM_000264.3(PTCH1):c.2124A>G (p.Thr708=) http://identifiers.org/clinvar/215686 ^@ NM_000264.3(PTCH1):c.2073C>T (p.Thr691=) http://identifiers.org/clinvar/215685 ^@ NM_000264.3(PTCH1):c.2050G>A (p.Glu684Lys) http://identifiers.org/clinvar/216376 ^@ NM_000264.3(PTCH1):c.2035G>A (p.Ala679Thr) http://identifiers.org/clinvar/215684 ^@ NM_000264.3(PTCH1):c.2034C>T (p.Thr678=) http://identifiers.org/clinvar/215456 ^@ NM_000264.3(PTCH1):c.1809C>T (p.Arg603=) http://identifiers.org/clinvar/216375 ^@ NM_000264.3(PTCH1):c.1804C>A (p.Arg602=) http://identifiers.org/clinvar/216374 ^@ NM_000264.3(PTCH1):c.1661G>A (p.Ser554Asn) http://identifiers.org/clinvar/216373 ^@ NM_000264.3(PTCH1):c.1652C>T (p.Thr551Met) http://identifiers.org/clinvar/216370 ^@ NM_000264.3(PTCH1):c.1347+5C>T http://identifiers.org/clinvar/215682 ^@ NM_000264.3(PTCH1):c.1332C>T (p.Ser444=) http://identifiers.org/clinvar/216369 ^@ NM_000264.3(PTCH1):c.1274C>T (p.Thr425Met) http://identifiers.org/clinvar/215681 ^@ NM_000264.3(PTCH1):c.1248T>C (p.Thr416=) http://identifiers.org/clinvar/216368 ^@ NM_000264.3(PTCH1):c.1216-6C>A http://identifiers.org/clinvar/216366 ^@ NM_000264.3(PTCH1):c.1128C>G (p.Phe376Leu) http://identifiers.org/clinvar/215680 ^@ NM_000264.3(PTCH1):c.1068-9G>A http://identifiers.org/clinvar/215679 ^@ NM_000264.3(PTCH1):c.1020G>A (p.Glu340=) http://identifiers.org/clinvar/215987 ^@ NM_000264.3(PTCH1):c.945+1G>A http://identifiers.org/clinvar/215706 ^@ NM_000264.3(PTCH1):c.882C>T (p.Arg294=) http://identifiers.org/clinvar/216059 ^@ NM_000264.3(PTCH1):c.666T>A (p.Tyr222Ter) http://identifiers.org/clinvar/216058 ^@ NM_000264.3(PTCH1):c.612C>G (p.Tyr204Ter) http://identifiers.org/clinvar/215705 ^@ NM_000264.3(PTCH1):c.584+10G>A http://identifiers.org/clinvar/216392 ^@ NM_000264.3(PTCH1):c.552G>T (p.Gln184His) http://identifiers.org/clinvar/216391 ^@ NM_000264.3(PTCH1):c.468A>G (p.Gln156=) http://identifiers.org/clinvar/215702 ^@ NM_000264.3(PTCH1):c.395-9A>G http://identifiers.org/clinvar/216385 ^@ NM_000264.3(PTCH1):c.388G>A (p.Val130Met) http://identifiers.org/clinvar/215697 ^@ NM_000264.3(PTCH1):c.333C>T (p.Ala111=) http://identifiers.org/clinvar/215683 ^@ NM_000264.3(PTCH1):c.201+9C>T http://identifiers.org/clinvar/216372 ^@ NM_000264.3(PTCH1):c.158C>T (p.Pro53Leu) http://identifiers.org/clinvar/216371 ^@ NM_000264.3(PTCH1):c.146A>G (p.Tyr49Cys) http://identifiers.org/clinvar/216367 ^@ NM_000264.3(PTCH1):c.113G>A (p.Gly38Glu) http://identifiers.org/clinvar/216393 ^@ NM_000264.3(PTCH1):c.67G>A (p.Ala23Thr) http://identifiers.org/clinvar/215455 ^@ NM_000264.3(PTCH1):c.-6_-4delGGC http://identifiers.org/clinvar/215454 ^@ NM_000264.3(PTCH1):c.-12_-4delGGCGGCGGC http://identifiers.org/clinvar/216845 ^@ NM_201590.2(CACNB2):c.1270C>T (p.Arg424Cys) http://identifiers.org/clinvar/215549 ^@ NM_201590.2(CACNB2):c.*10G>T http://identifiers.org/clinvar/216728 ^@ NM_020975.4(RET):c.43_44insTGCTGCTGC (p.Leu19_Pro20insLeuLeuLeu) http://identifiers.org/clinvar/215905 ^@ NM_020975.4(RET):c.144G>A (p.Thr48=) http://identifiers.org/clinvar/216724 ^@ NM_020975.4(RET):c.308A>G (p.His103Arg) http://identifiers.org/clinvar/216726 ^@ NM_020975.4(RET):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/216727 ^@ NM_020975.4(RET):c.406G>A (p.Glu136Lys) http://identifiers.org/clinvar/216729 ^@ NM_020975.4(RET):c.431G>A (p.Arg144His) http://identifiers.org/clinvar/215531 ^@ NM_020975.4(RET):c.468C>T (p.Ala156=) http://identifiers.org/clinvar/216730 ^@ NM_020975.4(RET):c.582G>A (p.Gln194=) http://identifiers.org/clinvar/216731 ^@ NM_020975.4(RET):c.977A>G (p.Gln326Arg) http://identifiers.org/clinvar/215904 ^@ NM_020975.4(RET):c.1063+7G>A http://identifiers.org/clinvar/216712 ^@ NM_020975.4(RET):c.1103G>A (p.Arg368His) http://identifiers.org/clinvar/216713 ^@ NM_020975.4(RET):c.1150C>G (p.Pro384Ala) http://identifiers.org/clinvar/216714 ^@ NM_020975.4(RET):c.1188G>A (p.Ser396=) http://identifiers.org/clinvar/215906 ^@ NM_020975.4(RET):c.1476C>G (p.Thr492=) http://identifiers.org/clinvar/216715 ^@ NM_020975.4(RET):c.1648+5G>A http://identifiers.org/clinvar/216716 ^@ NM_020975.4(RET):c.1688A>C (p.Lys563Thr) http://identifiers.org/clinvar/215907 ^@ NM_020975.4(RET):c.1695C>T (p.Cys565=) http://identifiers.org/clinvar/216717 ^@ NM_020975.4(RET):c.1737C>G (p.Asn579Lys) http://identifiers.org/clinvar/215908 ^@ NM_020975.4(RET):c.1782C>T (p.His594=) http://identifiers.org/clinvar/215909 ^@ NM_020975.4(RET):c.1890C>T (p.Cys630=) http://identifiers.org/clinvar/215530 ^@ NM_020975.4(RET):c.2088G>A (p.Ser696=) http://identifiers.org/clinvar/215910 ^@ NM_020975.4(RET):c.2289C>T (p.Asn763=) http://identifiers.org/clinvar/216719 ^@ NM_020975.4(RET):c.2601G>T (p.Glu867Asp) http://identifiers.org/clinvar/216720 ^@ NM_020975.4(RET):c.2607+4C>T http://identifiers.org/clinvar/215911 ^@ NM_020975.4(RET):c.2607+9A>T http://identifiers.org/clinvar/215912 ^@ NM_020975.4(RET):c.2661G>A (p.Lys887=) http://identifiers.org/clinvar/215913 ^@ NM_020975.4(RET):c.2715C>T (p.Tyr905=) http://identifiers.org/clinvar/216721 ^@ NM_020975.4(RET):c.2776C>G (p.His926Asp) http://identifiers.org/clinvar/216722 ^@ NM_020975.4(RET):c.2931C>G (p.Ser977Arg) http://identifiers.org/clinvar/216723 ^@ NM_020975.4(RET):c.2939+6C>T http://identifiers.org/clinvar/215914 ^@ NM_020975.4(RET):c.2988G>A (p.Pro996=) http://identifiers.org/clinvar/216725 ^@ NM_020975.4(RET):c.3182T>C (p.Leu1061Pro) http://identifiers.org/clinvar/215915 ^@ NM_020975.4(RET):c.3231C>G (p.Leu1077=) http://identifiers.org/clinvar/215735 ^@ NM_000399.4(EGR2):c.816C>A (p.Thr272=) http://identifiers.org/clinvar/215899 ^@ NM_018055.4(NODAL):c.662G>A (p.Arg221Gln) http://identifiers.org/clinvar/215828 ^@ NM_004329.2(BMPR1A):c.12A>G (p.Leu4=) http://identifiers.org/clinvar/216580 ^@ NM_004329.2(BMPR1A):c.22A>G (p.Ile8Val) http://identifiers.org/clinvar/216584 ^@ NM_004329.2(BMPR1A):c.83G>A (p.Ser28Asn) http://identifiers.org/clinvar/216581 ^@ NM_004329.2(BMPR1A):c.376C>G (p.Arg126Gly) http://identifiers.org/clinvar/216582 ^@ NM_004329.2(BMPR1A):c.389G>C (p.Cys130Ser) http://identifiers.org/clinvar/215830 ^@ NM_004329.2(BMPR1A):c.430+10C>G http://identifiers.org/clinvar/216583 ^@ NM_004329.2(BMPR1A):c.519C>G (p.Cys173Trp) http://identifiers.org/clinvar/215826 ^@ NM_004329.2(BMPR1A):c.1089A>G (p.Leu363=) http://identifiers.org/clinvar/215827 ^@ NM_004329.2(BMPR1A):c.1101C>T (p.Asn367=) http://identifiers.org/clinvar/216576 ^@ NM_004329.2(BMPR1A):c.1235T>C (p.Val412Ala) http://identifiers.org/clinvar/216577 ^@ NM_004329.2(BMPR1A):c.1274A>T (p.Tyr425Phe) http://identifiers.org/clinvar/216578 ^@ NM_004329.2(BMPR1A):c.1276A>G (p.Ile426Val) http://identifiers.org/clinvar/216579 ^@ NM_004329.2(BMPR1A):c.1306A>G (p.Ile436Val) http://identifiers.org/clinvar/215829 ^@ NM_004329.2(BMPR1A):c.1386G>A (p.Pro462=) http://identifiers.org/clinvar/215732 ^@ NM_000314.6(PTEN):c.48T>C (p.Tyr16=) http://identifiers.org/clinvar/215730 ^@ NM_000314.6(PTEN):c.174T>C (p.Asp58=) http://identifiers.org/clinvar/215731 ^@ NM_000314.6(PTEN):c.210-5T>C http://identifiers.org/clinvar/216421 ^@ NM_000314.6(PTEN):c.350A>G (p.Asn117Ser) http://identifiers.org/clinvar/216422 ^@ NM_000314.6(PTEN):c.422A>C (p.His141Pro) http://identifiers.org/clinvar/216068 ^@ NM_000314.6(PTEN):c.437T>G (p.Leu146Ter) http://identifiers.org/clinvar/215733 ^@ NM_000314.6(PTEN):c.723T>C (p.Phe241=) http://identifiers.org/clinvar/215734 ^@ NM_000314.6(PTEN):c.738G>A (p.Pro246=) http://identifiers.org/clinvar/216423 ^@ NM_000314.6(PTEN):c.935A>G (p.Asp312Gly) http://identifiers.org/clinvar/216420 ^@ NM_000314.6(PTEN):c.1198A>G (p.Ile400Val) http://identifiers.org/clinvar/216486 ^@ NM_001002261.3(ZFYVE27):c.1057G>A (p.Gly353Arg) http://identifiers.org/clinvar/216489 ^@ NM_001080463.1(DYNC2H1):c.1774C>T (p.Leu592Phe) http://identifiers.org/clinvar/216490 ^@ NM_001080463.1(DYNC2H1):c.6047A>G (p.Tyr2016Cys) http://identifiers.org/clinvar/215483 ^@ NM_001080463.1(DYNC2H1):c.9297T>C (p.Tyr3099=) http://identifiers.org/clinvar/215778 ^@ NM_001080463.1(DYNC2H1):c.9814T>A (p.Leu3272Ile) http://identifiers.org/clinvar/215777 ^@ NM_001080463.1(DYNC2H1):c.11205T>A (p.Ser3735=) http://identifiers.org/clinvar/215482 ^@ NM_001080463.1(DYNC2H1):c.12028G>A (p.Ala4010Thr) http://identifiers.org/clinvar/216237 ^@ NM_000051.3(ATM):c.93G>C (p.Lys31Asn) http://identifiers.org/clinvar/216020 ^@ NM_000051.3(ATM):c.140C>G (p.Ser47Ter) http://identifiers.org/clinvar/216220 ^@ NM_000051.3(ATM):c.497A>T (p.Glu166Val) http://identifiers.org/clinvar/216024 ^@ NM_000051.3(ATM):c.748C>T (p.Arg250Ter) http://identifiers.org/clinvar/216231 ^@ NM_000051.3(ATM):c.754T>A (p.Cys252Ser) http://identifiers.org/clinvar/216232 ^@ NM_000051.3(ATM):c.778C>G (p.Pro260Ala) http://identifiers.org/clinvar/215596 ^@ NM_000051.3(ATM):c.855G>C (p.Leu285=) http://identifiers.org/clinvar/215598 ^@ NM_000051.3(ATM):c.963T>C (p.Asn321=) http://identifiers.org/clinvar/216190 ^@ NM_000051.3(ATM):c.1228G>A (p.Val410Met) http://identifiers.org/clinvar/215575 ^@ NM_000051.3(ATM):c.1236-9_1236-8insG http://identifiers.org/clinvar/216191 ^@ NM_000051.3(ATM):c.1249A>G (p.Thr417Ala) http://identifiers.org/clinvar/216019 ^@ NM_000051.3(ATM):c.1284_1291delTAACTGTG (p.Asn429Alafs) http://identifiers.org/clinvar/215576 ^@ NM_000051.3(ATM):c.1473C>G (p.Thr491=) http://identifiers.org/clinvar/216192 ^@ NM_000051.3(ATM):c.1870A>G (p.Met624Val) http://identifiers.org/clinvar/215577 ^@ NM_000051.3(ATM):c.1899-10T>G http://identifiers.org/clinvar/216193 ^@ NM_000051.3(ATM):c.1943T>C (p.Val648Ala) http://identifiers.org/clinvar/216850 ^@ NM_000051.3(ATM):c.2113delT (p.Tyr705Thrfs) http://identifiers.org/clinvar/216021 ^@ NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) http://identifiers.org/clinvar/216194 ^@ NM_000051.3(ATM):c.2480A>G (p.Lys827Arg) http://identifiers.org/clinvar/216851 ^@ NM_000051.3(ATM):c.2589_2591delTAG (p.Ser865del) http://identifiers.org/clinvar/216195 ^@ NM_000051.3(ATM):c.2694A>T (p.Leu898Phe) http://identifiers.org/clinvar/216196 ^@ NM_000051.3(ATM):c.2699T>C (p.Met900Thr) http://identifiers.org/clinvar/216197 ^@ NM_000051.3(ATM):c.2701C>T (p.Leu901Phe) http://identifiers.org/clinvar/216198 ^@ NM_000051.3(ATM):c.2836A>C (p.Met946Leu) http://identifiers.org/clinvar/215578 ^@ NM_000051.3(ATM):c.2838+9C>G http://identifiers.org/clinvar/215579 ^@ NM_000051.3(ATM):c.2871A>G (p.Glu957=) http://identifiers.org/clinvar/215580 ^@ NM_000051.3(ATM):c.2901T>G (p.Leu967=) http://identifiers.org/clinvar/216199 ^@ NM_000051.3(ATM):c.3055C>G (p.Leu1019Val) http://identifiers.org/clinvar/216200 ^@ NM_000051.3(ATM):c.3088A>G (p.Lys1030Glu) http://identifiers.org/clinvar/215581 ^@ NM_000051.3(ATM):c.3153+9T>C http://identifiers.org/clinvar/215582 ^@ NM_000051.3(ATM):c.3336T>A (p.Pro1112=) http://identifiers.org/clinvar/216201 ^@ NM_000051.3(ATM):c.3457G>C (p.Val1153Leu) http://identifiers.org/clinvar/216202 ^@ NM_000051.3(ATM):c.3613C>T (p.Arg1205Cys) http://identifiers.org/clinvar/216203 ^@ NM_000051.3(ATM):c.3665T>C (p.Leu1222Pro) http://identifiers.org/clinvar/216204 ^@ NM_000051.3(ATM):c.3802G>A (p.Val1268Met) http://identifiers.org/clinvar/216205 ^@ NM_000051.3(ATM):c.3834C>A (p.Asp1278Glu) http://identifiers.org/clinvar/216206 ^@ NM_000051.3(ATM):c.3843T>G (p.Ser1281Arg) http://identifiers.org/clinvar/216207 ^@ NM_000051.3(ATM):c.3993G>A (p.Gln1331=) http://identifiers.org/clinvar/216209 ^@ NM_000051.3(ATM):c.4003T>G (p.Leu1335Val) http://identifiers.org/clinvar/216210 ^@ NM_000051.3(ATM):c.4017T>G (p.Asn1339Lys) http://identifiers.org/clinvar/216211 ^@ NM_000051.3(ATM):c.4083G>T (p.Gln1361His) http://identifiers.org/clinvar/216212 ^@ NM_000051.3(ATM):c.4109+6T>C http://identifiers.org/clinvar/216213 ^@ NM_000051.3(ATM):c.4126C>G (p.Pro1376Ala) http://identifiers.org/clinvar/216214 ^@ NM_000051.3(ATM):c.4144C>T (p.Pro1382Ser) http://identifiers.org/clinvar/215583 ^@ NM_000051.3(ATM):c.4236+8T>C http://identifiers.org/clinvar/216215 ^@ NM_000051.3(ATM):c.4437-9C>T http://identifiers.org/clinvar/216216 ^@ NM_000051.3(ATM):c.4442C>T (p.Ser1481Phe) http://identifiers.org/clinvar/216217 ^@ NM_000051.3(ATM):c.4505G>T (p.Cys1502Phe) http://identifiers.org/clinvar/216218 ^@ NM_000051.3(ATM):c.4516G>A (p.Val1506Met) http://identifiers.org/clinvar/216219 ^@ NM_000051.3(ATM):c.4549C>T (p.Leu1517Phe) http://identifiers.org/clinvar/216221 ^@ NM_000051.3(ATM):c.5069A>G (p.His1690Arg) http://identifiers.org/clinvar/215584 ^@ NM_000051.3(ATM):c.5320-7T>G http://identifiers.org/clinvar/216222 ^@ NM_000051.3(ATM):c.5624G>A (p.Arg1875Gln) http://identifiers.org/clinvar/215585 ^@ NM_000051.3(ATM):c.5675-4T>A http://identifiers.org/clinvar/215586 ^@ NM_000051.3(ATM):c.5718A>G (p.Gln1906=) http://identifiers.org/clinvar/215587 ^@ NM_000051.3(ATM):c.6007-5T>C http://identifiers.org/clinvar/216223 ^@ NM_000051.3(ATM):c.6086C>T (p.Pro2029Leu) http://identifiers.org/clinvar/216224 ^@ NM_000051.3(ATM):c.6118G>C (p.Ala2040Pro) http://identifiers.org/clinvar/216225 ^@ NM_000051.3(ATM):c.6267A>C (p.Lys2089Asn) http://identifiers.org/clinvar/215588 ^@ NM_000051.3(ATM):c.6330C>T (p.Asp2110=) http://identifiers.org/clinvar/215589 ^@ NM_000051.3(ATM):c.6507C>G (p.Leu2169=) http://identifiers.org/clinvar/216226 ^@ NM_000051.3(ATM):c.6583C>T (p.His2195Tyr) http://identifiers.org/clinvar/215590 ^@ NM_000051.3(ATM):c.6591A>G (p.Gln2197=) http://identifiers.org/clinvar/215591 ^@ NM_000051.3(ATM):c.6603A>G (p.Val2201=) http://identifiers.org/clinvar/216022 ^@ NM_000051.3(ATM):c.6750_6751insCTCA (p.Lys2253Hisfs) http://identifiers.org/clinvar/216227 ^@ NM_000051.3(ATM):c.6757A>C (p.Lys2253Gln) http://identifiers.org/clinvar/216228 ^@ NM_000051.3(ATM):c.6845A>G (p.Asn2282Ser) http://identifiers.org/clinvar/215592 ^@ NM_000051.3(ATM):c.6975+7T>A http://identifiers.org/clinvar/216229 ^@ NM_000051.3(ATM):c.6995T>G (p.Leu2332Arg) http://identifiers.org/clinvar/215593 ^@ NM_000051.3(ATM):c.7224G>A (p.Ser2408=) http://identifiers.org/clinvar/216023 ^@ NM_000051.3(ATM):c.7240C>T (p.Gln2414Ter) http://identifiers.org/clinvar/216230 ^@ NM_000051.3(ATM):c.7382G>A (p.Arg2461His) http://identifiers.org/clinvar/215594 ^@ NM_000051.3(ATM):c.7620C>A (p.Val2540=) http://identifiers.org/clinvar/215595 ^@ NM_000051.3(ATM):c.7779G>A (p.Gln2593=) http://identifiers.org/clinvar/216233 ^@ NM_000051.3(ATM):c.7808A>G (p.Asn2603Ser) http://identifiers.org/clinvar/215980 ^@ NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) http://identifiers.org/clinvar/216025 ^@ NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) http://identifiers.org/clinvar/216234 ^@ NM_000051.3(ATM):c.8156G>T (p.Arg2719Leu) http://identifiers.org/clinvar/215597 ^@ NM_000051.3(ATM):c.8584+6C>G http://identifiers.org/clinvar/216235 ^@ NM_000051.3(ATM):c.8672G>A (p.Gly2891Asp) http://identifiers.org/clinvar/216208 ^@ NM_000051.3(ATM):c.8958A>C (p.Ala2986=) http://identifiers.org/clinvar/216236 ^@ NM_000051.3(ATM):c.8959G>C (p.Asp2987His) http://identifiers.org/clinvar/215841 ^@ NM_005188.3(CBL):c.243A>G (p.Pro81=) http://identifiers.org/clinvar/216601 ^@ NM_005188.3(CBL):c.1891A>G (p.Arg631Gly) http://identifiers.org/clinvar/216485 ^@ NM_000890.3(KCNJ5):c.86C>A (p.Ala29Asp) http://identifiers.org/clinvar/216483 ^@ NM_000890.3(KCNJ5):c.492G>T (p.Gly164=) http://identifiers.org/clinvar/216484 ^@ NM_000890.3(KCNJ5):c.658C>T (p.Arg220Trp) http://identifiers.org/clinvar/215479 ^@ NM_000890.3(KCNJ5):c.957G>A (p.Arg319=) http://identifiers.org/clinvar/216572 ^@ NM_003476.4(CSRP3):c.337A>T (p.Lys113Ter) http://identifiers.org/clinvar/215922 ^@ NM_022725.3(FANCF):c.883G>A (p.Val295Ile) http://identifiers.org/clinvar/215662 ^@ NM_000218.2(KCNQ1):c.1152C>T (p.Ala384=) http://identifiers.org/clinvar/216055 ^@ NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) http://identifiers.org/clinvar/215678 ^@ NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) http://identifiers.org/clinvar/215962 ^@ NM_130799.2(MEN1):c.1764G>A (p.Lys588=) http://identifiers.org/clinvar/216134 ^@ NM_130799.2(MEN1):c.1664G>A (p.Ser555Asn) http://identifiers.org/clinvar/215541 ^@ NM_130799.2(MEN1):c.1638G>A (p.Pro546=) http://identifiers.org/clinvar/216816 ^@ NM_130799.2(MEN1):c.1431A>T (p.Glu477Asp) http://identifiers.org/clinvar/216133 ^@ NM_130799.2(MEN1):c.1429G>T (p.Glu477Ter) http://identifiers.org/clinvar/216815 ^@ NM_130799.2(MEN1):c.1354C>T (p.Arg452Trp) http://identifiers.org/clinvar/215961 ^@ NM_130799.2(MEN1):c.1351-4C>T http://identifiers.org/clinvar/216814 ^@ NM_130799.2(MEN1):c.1351-8T>G http://identifiers.org/clinvar/216813 ^@ NM_130799.2(MEN1):c.1231G>T (p.Ala411Ser) http://identifiers.org/clinvar/216812 ^@ NM_130799.2(MEN1):c.1185+4A>G http://identifiers.org/clinvar/215540 ^@ NM_130799.2(MEN1):c.1170G>A (p.Pro390=) http://identifiers.org/clinvar/216811 ^@ NM_130799.2(MEN1):c.1155G>A (p.Ala385=) http://identifiers.org/clinvar/216810 ^@ NM_130799.2(MEN1):c.1092C>A (p.Phe364Leu) http://identifiers.org/clinvar/216809 ^@ NM_130799.2(MEN1):c.1063C>A (p.Arg355=) http://identifiers.org/clinvar/216819 ^@ NM_130799.2(MEN1):c.803A>G (p.Tyr268Cys) http://identifiers.org/clinvar/215966 ^@ NM_130799.2(MEN1):c.762G>A (p.Leu254=) http://identifiers.org/clinvar/215965 ^@ NM_130799.2(MEN1):c.759G>T (p.Ser253=) http://identifiers.org/clinvar/216818 ^@ NM_130799.2(MEN1):c.685C>T (p.Arg229Cys) http://identifiers.org/clinvar/216817 ^@ NM_130799.2(MEN1):c.361G>A (p.Val121Ile) http://identifiers.org/clinvar/215964 ^@ NM_130799.2(MEN1):c.339C>T (p.Ser113=) http://identifiers.org/clinvar/215960 ^@ NM_130799.2(MEN1):c.115T>C (p.Leu39=) http://identifiers.org/clinvar/215963 ^@ NM_130799.2(MEN1):c.18C>T (p.Ala6=) http://identifiers.org/clinvar/216740 ^@ NM_024649.4(BBS1):c.1139G>A (p.Arg380Gln) http://identifiers.org/clinvar/216741 ^@ NM_024649.4(BBS1):c.1568_1570delACA (p.Asn524del) http://identifiers.org/clinvar/216610 ^@ NM_005591.3(MRE11):c.1974C>T (p.Thr658=) http://identifiers.org/clinvar/216609 ^@ NM_005591.3(MRE11):c.1792G>C (p.Gly598Arg) http://identifiers.org/clinvar/215847 ^@ NM_005591.3(MRE11):c.1564-7C>T http://identifiers.org/clinvar/216095 ^@ NM_005591.3(MRE11):c.1441delA (p.Thr481Hisfs) http://identifiers.org/clinvar/216608 ^@ NM_005591.3(MRE11):c.1418T>C (p.Leu473Ser) http://identifiers.org/clinvar/215845 ^@ NM_005591.3(MRE11):c.1374A>G (p.Val458=) http://identifiers.org/clinvar/216607 ^@ NM_005591.3(MRE11):c.1326+3A>G http://identifiers.org/clinvar/216606 ^@ NM_005591.3(MRE11):c.1225+10T>G http://identifiers.org/clinvar/216094 ^@ NM_005591.3(MRE11):c.1143delT (p.Phe381Leufs) http://identifiers.org/clinvar/216615 ^@ NM_005591.3(MRE11):c.862C>T (p.Arg288Cys) http://identifiers.org/clinvar/215849 ^@ NM_005591.3(MRE11):c.753A>C (p.Ile251=) http://identifiers.org/clinvar/215848 ^@ NM_005591.3(MRE11):c.717T>C (p.Asp239=) http://identifiers.org/clinvar/216613 ^@ NM_005591.3(MRE11):c.660-9T>G http://identifiers.org/clinvar/216612 ^@ NM_005591.3(MRE11):c.476T>C (p.Val159Ala) http://identifiers.org/clinvar/215508 ^@ NM_005591.3(MRE11):c.315-5_315-4dupTT http://identifiers.org/clinvar/216611 ^@ NM_005591.3(MRE11):c.293C>T (p.Ser98Leu) http://identifiers.org/clinvar/215846 ^@ NM_005591.3(MRE11):c.138T>C (p.Leu46=) http://identifiers.org/clinvar/216614 ^@ NM_005591.3(MRE11):c.6T>A (p.Ser2Arg) http://identifiers.org/clinvar/216114 ^@ NM_016156.5(MTMR2):c.1034delA (p.Asn345Metfs) http://identifiers.org/clinvar/216646 ^@ NM_016156.5(MTMR2):c.357+4A>C http://identifiers.org/clinvar/215521 ^@ NM_016156.5(MTMR2):c.130G>A (p.Val44Ile) http://identifiers.org/clinvar/216777 ^@ NM_030962.3(SBF2):c.5020_5022delGAA (p.Glu1674del) http://identifiers.org/clinvar/215944 ^@ NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) http://identifiers.org/clinvar/216776 ^@ NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) http://identifiers.org/clinvar/216778 ^@ NM_030962.3(SBF2):c.898A>G (p.Ile300Val) http://identifiers.org/clinvar/216733 ^@ NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) http://identifiers.org/clinvar/215533 ^@ NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) http://identifiers.org/clinvar/215919 ^@ NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) http://identifiers.org/clinvar/215918 ^@ NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) http://identifiers.org/clinvar/215532 ^@ NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) http://identifiers.org/clinvar/215921 ^@ NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) http://identifiers.org/clinvar/215920 ^@ NM_021625.4(TRPV4):c.712+10C>T http://identifiers.org/clinvar/216734 ^@ NM_021625.4(TRPV4):c.281C>T (p.Ser94Leu) http://identifiers.org/clinvar/215917 ^@ NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) http://identifiers.org/clinvar/215780 ^@ NM_001082538.2(TCTN1):c.1095T>C (p.His365=) http://identifiers.org/clinvar/216678 ^@ NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser) http://identifiers.org/clinvar/216679 ^@ NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) http://identifiers.org/clinvar/215939 ^@ NM_024809.4(TCTN2):c.1505+3G>C http://identifiers.org/clinvar/215940 ^@ NM_024809.4(TCTN2):c.1585C>G (p.Leu529Val) http://identifiers.org/clinvar/216481 ^@ NM_000719.6(CACNA1C):c.153G>A (p.Ser51=) http://identifiers.org/clinvar/216600 ^@ NM_004982.3(KCNJ8):c.821G>A (p.Arg274His) http://identifiers.org/clinvar/216480 ^@ NM_000719.6(CACNA1C):c.1384C>G (p.Arg462Gly) http://identifiers.org/clinvar/215770 ^@ NM_000719.6(CACNA1C):c.5034G>A (p.Glu1678=) http://identifiers.org/clinvar/215771 ^@ NM_000719.6(CACNA1C):c.5149G>A (p.Ala1717Thr) http://identifiers.org/clinvar/215772 ^@ NM_000719.6(CACNA1C):c.5895C>T (p.Pro1965=) http://identifiers.org/clinvar/216482 ^@ NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) http://identifiers.org/clinvar/215507 ^@ NM_004984.2(KIF5A):c.2769G>A (p.Arg923=) http://identifiers.org/clinvar/215439 ^@ NM_000075.3(CDK4):c.522+8G>A http://identifiers.org/clinvar/216270 ^@ NM_000075.3(CDK4):c.460G>C (p.Val154Leu) http://identifiers.org/clinvar/216269 ^@ NM_000075.3(CDK4):c.431A>G (p.Glu144Gly) http://identifiers.org/clinvar/215632 ^@ NM_000075.3(CDK4):c.429A>G (p.Pro143=) http://identifiers.org/clinvar/215631 ^@ NM_000075.3(CDK4):c.420T>C (p.Asp140=) http://identifiers.org/clinvar/216268 ^@ NM_000075.3(CDK4):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/215630 ^@ NM_000075.3(CDK4):c.252C>T (p.Asp84=) http://identifiers.org/clinvar/215629 ^@ NM_000075.3(CDK4):c.141A>C (p.Gly47=) http://identifiers.org/clinvar/216765 ^@ NM_024685.3(BBS10):c.1185C>G (p.His395Gln) http://identifiers.org/clinvar/216764 ^@ NM_024685.3(BBS10):c.1144G>T (p.Val382Phe) http://identifiers.org/clinvar/216123 ^@ NM_024685.3(BBS10):c.687delT (p.Val230Phefs) http://identifiers.org/clinvar/216124 ^@ NM_024685.3(BBS10):c.531C>A (p.Tyr177Ter) http://identifiers.org/clinvar/216770 ^@ NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp) http://identifiers.org/clinvar/216769 ^@ NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) http://identifiers.org/clinvar/216126 ^@ NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs) http://identifiers.org/clinvar/215941 ^@ NM_025114.3(CEP290):c.204G>A (p.Leu68=) http://identifiers.org/clinvar/216030 ^@ NM_000059.3(BRCA2):c.6842-?_7007+?del http://identifiers.org/clinvar/216026 ^@ NM_000059.3(BRCA2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/215979 ^@ NM_000059.3(BRCA2):c.67+2delT http://identifiers.org/clinvar/215435 ^@ NM_000059.3(BRCA2):c.67+17T>C http://identifiers.org/clinvar/215601 ^@ NM_000059.3(BRCA2):c.222G>C (p.Leu74=) http://identifiers.org/clinvar/216243 ^@ NM_000059.3(BRCA2):c.291A>T (p.Glu97Asp) http://identifiers.org/clinvar/215607 ^@ NM_000059.3(BRCA2):c.475+16A>T http://identifiers.org/clinvar/216250 ^@ NM_000059.3(BRCA2):c.548G>A (p.Ser183Asn) http://identifiers.org/clinvar/215610 ^@ NM_000059.3(BRCA2):c.631+18G>A http://identifiers.org/clinvar/216257 ^@ NM_000059.3(BRCA2):c.747T>A (p.Ser249=) http://identifiers.org/clinvar/215626 ^@ NM_000059.3(BRCA2):c.909T>G (p.Ser303=) http://identifiers.org/clinvar/215434 ^@ NM_000059.3(BRCA2):c.1176C>T (p.Ala392=) http://identifiers.org/clinvar/216852 ^@ NM_000059.3(BRCA2):c.1570_1571delAT (p.Met524Aspfs) http://identifiers.org/clinvar/215600 ^@ NM_000059.3(BRCA2):c.1910-19_1910-18delTT http://identifiers.org/clinvar/216240 ^@ NM_000059.3(BRCA2):c.2287C>G (p.His763Asp) http://identifiers.org/clinvar/216241 ^@ NM_000059.3(BRCA2):c.2671G>C (p.Val891Leu) http://identifiers.org/clinvar/216242 ^@ NM_000059.3(BRCA2):c.2821G>A (p.Val941Met) http://identifiers.org/clinvar/216244 ^@ NM_000059.3(BRCA2):c.3188A>T (p.Gln1063Leu) http://identifiers.org/clinvar/215602 ^@ NM_000059.3(BRCA2):c.3213T>C (p.His1071=) http://identifiers.org/clinvar/215603 ^@ NM_000059.3(BRCA2):c.3612T>C (p.Ala1204=) http://identifiers.org/clinvar/216245 ^@ NM_000059.3(BRCA2):c.3994C>T (p.His1332Tyr) http://identifiers.org/clinvar/216853 ^@ NM_000059.3(BRCA2):c.4176delT (p.Ala1393Argfs) http://identifiers.org/clinvar/215605 ^@ NM_000059.3(BRCA2):c.4224G>A (p.Gln1408=) http://identifiers.org/clinvar/216854 ^@ NM_000059.3(BRCA2):c.4446_4451dupAACAGA (p.Thr1483_Asp1484insGluThr) http://identifiers.org/clinvar/215606 ^@ NM_000059.3(BRCA2):c.4485C>A (p.Val1495=) http://identifiers.org/clinvar/216855 ^@ NM_000059.3(BRCA2):c.4515_4525delCTTCCAGGGAC (p.Phe1506Thrfs) http://identifiers.org/clinvar/216856 ^@ NM_000059.3(BRCA2):c.4587dupG (p.Lys1530Glufs) http://identifiers.org/clinvar/216246 ^@ NM_000059.3(BRCA2):c.4704G>T (p.Lys1568Asn) http://identifiers.org/clinvar/216247 ^@ NM_000059.3(BRCA2):c.4991T>C (p.Ile1664Thr) http://identifiers.org/clinvar/215608 ^@ NM_000059.3(BRCA2):c.5028T>C (p.Ser1676=) http://identifiers.org/clinvar/216248 ^@ NM_000059.3(BRCA2):c.5043_5048delGAGTCA (p.Ser1682_Gln1683del) http://identifiers.org/clinvar/216251 ^@ NM_000059.3(BRCA2):c.5527G>A (p.Ala1843Thr) http://identifiers.org/clinvar/215609 ^@ NM_000059.3(BRCA2):c.5769C>T (p.Asp1923=) http://identifiers.org/clinvar/216252 ^@ NM_000059.3(BRCA2):c.5840C>T (p.Pro1947Leu) http://identifiers.org/clinvar/216029 ^@ NM_000059.3(BRCA2):c.6022A>T (p.Lys2008Ter) http://identifiers.org/clinvar/215611 ^@ NM_000059.3(BRCA2):c.6627A>C (p.Ile2209=) http://identifiers.org/clinvar/215612 ^@ NM_000059.3(BRCA2):c.6842-14A>T http://identifiers.org/clinvar/216253 ^@ NM_000059.3(BRCA2):c.6916G>A (p.Ala2306Thr) http://identifiers.org/clinvar/216254 ^@ NM_000059.3(BRCA2):c.7066T>G (p.Phe2356Val) http://identifiers.org/clinvar/216255 ^@ NM_000059.3(BRCA2):c.7095T>A (p.His2365Gln) http://identifiers.org/clinvar/215614 ^@ NM_000059.3(BRCA2):c.7239A>G (p.Lys2413=) http://identifiers.org/clinvar/215615 ^@ NM_000059.3(BRCA2):c.7398A>G (p.Ala2466=) http://identifiers.org/clinvar/216256 ^@ NM_000059.3(BRCA2):c.7478T>C (p.Met2493Thr) http://identifiers.org/clinvar/215616 ^@ NM_000059.3(BRCA2):c.7618-16_7618-13delTGTT http://identifiers.org/clinvar/216258 ^@ NM_000059.3(BRCA2):c.7682A>G (p.Gln2561Arg) http://identifiers.org/clinvar/215617 ^@ NM_000059.3(BRCA2):c.7805+17G>A http://identifiers.org/clinvar/216259 ^@ NM_000059.3(BRCA2):c.7806-3C>G http://identifiers.org/clinvar/216031 ^@ NM_000059.3(BRCA2):c.7872T>G (p.Tyr2624Ter) http://identifiers.org/clinvar/216260 ^@ NM_000059.3(BRCA2):c.7916C>T (p.Pro2639Leu) http://identifiers.org/clinvar/216857 ^@ NM_000059.3(BRCA2):c.7946delC (p.Pro2649Glnfs) http://identifiers.org/clinvar/215618 ^@ NM_000059.3(BRCA2):c.7971A>G (p.Lys2657=) http://identifiers.org/clinvar/215619 ^@ NM_000059.3(BRCA2):c.7995T>C (p.Asp2665=) http://identifiers.org/clinvar/216032 ^@ NM_000059.3(BRCA2):c.8143A>T (p.Lys2715Ter) http://identifiers.org/clinvar/216261 ^@ NM_000059.3(BRCA2):c.8151C>T (p.Ala2717=) http://identifiers.org/clinvar/215620 ^@ NM_000059.3(BRCA2):c.8238A>C (p.Thr2746=) http://identifiers.org/clinvar/216033 ^@ NM_000059.3(BRCA2):c.8420C>A (p.Ser2807Ter) http://identifiers.org/clinvar/216262 ^@ NM_000059.3(BRCA2):c.8507C>T (p.Ser2836Phe) http://identifiers.org/clinvar/215621 ^@ NM_000059.3(BRCA2):c.8508T>C (p.Ser2836=) http://identifiers.org/clinvar/215622 ^@ NM_000059.3(BRCA2):c.8517C>T (p.Tyr2839=) http://identifiers.org/clinvar/215623 ^@ NM_000059.3(BRCA2):c.8754+12A>G http://identifiers.org/clinvar/215624 ^@ NM_000059.3(BRCA2):c.8755-12A>G http://identifiers.org/clinvar/215625 ^@ NM_000059.3(BRCA2):c.8772G>A (p.Glu2924=) http://identifiers.org/clinvar/216263 ^@ NM_000059.3(BRCA2):c.9302T>C (p.Leu3101Pro) http://identifiers.org/clinvar/216264 ^@ NM_000059.3(BRCA2):c.9501+6G>T http://identifiers.org/clinvar/216265 ^@ NM_000059.3(BRCA2):c.9551T>C (p.Leu3184Pro) http://identifiers.org/clinvar/216266 ^@ NM_000059.3(BRCA2):c.9744G>A (p.Met3248Ile) http://identifiers.org/clinvar/216267 ^@ NM_000059.3(BRCA2):c.9863C>T (p.Thr3288Ile) http://identifiers.org/clinvar/215627 ^@ NM_000059.3(BRCA2):c.9918C>A (p.Thr3306=) http://identifiers.org/clinvar/215628 ^@ NM_000059.3(BRCA2):c.9951G>A (p.Leu3317=) http://identifiers.org/clinvar/216238 ^@ NM_000059.3(BRCA2):c.10043A>G (p.Asn3348Ser) http://identifiers.org/clinvar/216239 ^@ NM_000059.3(BRCA2):c.10160C>G (p.Thr3387Ser) http://identifiers.org/clinvar/215599 ^@ NM_000059.3(BRCA2):c.10166delC (p.Ser3389Phefs) http://identifiers.org/clinvar/216687 ^@ NM_015087.4(SPG20):c.1172A>G (p.Asp391Gly) http://identifiers.org/clinvar/216688 ^@ NM_015087.4(SPG20):c.361G>T (p.Asp121Tyr) http://identifiers.org/clinvar/215884 ^@ NM_015087.4(SPG20):c.75A>G (p.Leu25=) http://identifiers.org/clinvar/216365 ^@ NM_000257.3(MYH7):c.2312_2320dupGGCTGCTGG (p.Leu773_Glu774insGlyLeuLeu) http://identifiers.org/clinvar/216364 ^@ NM_000257.3(MYH7):c.1643T>G (p.Phe548Cys) http://identifiers.org/clinvar/216363 ^@ NM_000257.3(MYH7):c.1625A>G (p.Lys542Arg) http://identifiers.org/clinvar/216362 ^@ NM_000257.3(MYH7):c.1305G>A (p.Met435Ile) http://identifiers.org/clinvar/215525 ^@ NM_018139.2(DNAAF2):c.2187A>G (p.Gln729=) http://identifiers.org/clinvar/215901 ^@ NM_018139.2(DNAAF2):c.1459C>T (p.Arg487Cys) http://identifiers.org/clinvar/216703 ^@ NM_018139.2(DNAAF2):c.1417C>T (p.Arg473Trp) http://identifiers.org/clinvar/215900 ^@ NM_018139.2(DNAAF2):c.126G>A (p.Glu42=) http://identifiers.org/clinvar/216704 ^@ NM_018139.2(DNAAF2):c.20C>T (p.Ser7Phe) http://identifiers.org/clinvar/216696 ^@ NM_015915.4(ATL1):c.300T>G (p.Val100=) http://identifiers.org/clinvar/215894 ^@ NM_015915.4(ATL1):c.1641G>A (p.Ser547=) http://identifiers.org/clinvar/215520 ^@ NM_015346.3(ZFYVE26):c.7417-5G>C http://identifiers.org/clinvar/216693 ^@ NM_015346.3(ZFYVE26):c.6786+5T>C http://identifiers.org/clinvar/216692 ^@ NM_015346.3(ZFYVE26):c.6287T>C (p.Leu2096Pro) http://identifiers.org/clinvar/215890 ^@ NM_015346.3(ZFYVE26):c.6086T>C (p.Ile2029Thr) http://identifiers.org/clinvar/215519 ^@ NM_015346.3(ZFYVE26):c.4734C>T (p.Ile1578=) http://identifiers.org/clinvar/215889 ^@ NM_015346.3(ZFYVE26):c.4324G>A (p.Asp1442Asn) http://identifiers.org/clinvar/216691 ^@ NM_015346.3(ZFYVE26):c.3062G>A (p.Arg1021Gln) http://identifiers.org/clinvar/216690 ^@ NM_015346.3(ZFYVE26):c.2264G>A (p.Arg755Gln) http://identifiers.org/clinvar/216689 ^@ NM_015346.3(ZFYVE26):c.1526A>G (p.Tyr509Cys) http://identifiers.org/clinvar/215891 ^@ NM_015346.3(ZFYVE26):c.991A>G (p.Asn331Asp) http://identifiers.org/clinvar/216842 ^@ NM_198309.3(TTC8):c.440G>C (p.Arg147Thr) http://identifiers.org/clinvar/215975 ^@ NM_198309.3(TTC8):c.612C>G (p.Ala204=) http://identifiers.org/clinvar/215974 ^@ NM_198309.3(TTC8):c.1047C>T (p.Asn349=) http://identifiers.org/clinvar/215548 ^@ NM_198309.3(TTC8):c.1434G>C (p.Ala478=) http://identifiers.org/clinvar/216774 ^@ NM_025137.3(SPG11):c.7132T>C (p.Phe2378Leu) http://identifiers.org/clinvar/216009 ^@ NM_025137.3(SPG11):c.7115T>A (p.Leu2372Ter) http://identifiers.org/clinvar/216773 ^@ NM_025137.3(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu) http://identifiers.org/clinvar/215943 ^@ NM_025137.3(SPG11):c.3146-6T>G http://identifiers.org/clinvar/215942 ^@ NM_025137.3(SPG11):c.2887A>C (p.Arg963=) http://identifiers.org/clinvar/216127 ^@ NM_025137.3(SPG11):c.2331delA (p.Glu778Lysfs) http://identifiers.org/clinvar/216772 ^@ NM_025137.3(SPG11):c.1753C>T (p.Pro585Ser) http://identifiers.org/clinvar/216775 ^@ NM_025137.3(SPG11):c.733A>G (p.Met245Val) http://identifiers.org/clinvar/216771 ^@ NM_025137.3(SPG11):c.16G>A (p.Gly6Arg) http://identifiers.org/clinvar/215896 ^@ NM_016630.6(SPG21):c.846G>A (p.Ala282=) http://identifiers.org/clinvar/216570 ^@ NM_002755.3(MAP2K1):c.292-3C>T http://identifiers.org/clinvar/215953 ^@ NM_033028.4(BBS4):c.864+10C>T http://identifiers.org/clinvar/215783 ^@ NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) http://identifiers.org/clinvar/215484 ^@ NM_001113378.1(FANCI):c.2883A>G (p.Gln961=) http://identifiers.org/clinvar/216122 ^@ NM_024675.3(PALB2):c.3114-?_3201+?del http://identifiers.org/clinvar/216008 ^@ NM_024675.3(PALB2):c.3114-?_3201+?dup http://identifiers.org/clinvar/216007 ^@ NM_024675.3(PALB2):c.2587-?_2748+?del http://identifiers.org/clinvar/216036 ^@ NM_000135.2(FANCA):c.(?_-1)_522+?del http://identifiers.org/clinvar/215839 ^@ NM_004862.3(LITAF):c.240C>T (p.Tyr80=) http://identifiers.org/clinvar/215840 ^@ NM_004862.3(LITAF):c.146C>T (p.Thr49Met) http://identifiers.org/clinvar/216599 ^@ NM_004862.3(LITAF):c.6G>A (p.Ser2=) http://identifiers.org/clinvar/216757 ^@ NM_024675.3(PALB2):c.3538A>G (p.Ile1180Val) http://identifiers.org/clinvar/216756 ^@ NM_024675.3(PALB2):c.3473A>G (p.His1158Arg) http://identifiers.org/clinvar/216755 ^@ NM_024675.3(PALB2):c.3448C>T (p.Leu1150Phe) http://identifiers.org/clinvar/216754 ^@ NM_024675.3(PALB2):c.3260G>A (p.Ser1087Asn) http://identifiers.org/clinvar/216753 ^@ NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys) http://identifiers.org/clinvar/216752 ^@ NM_024675.3(PALB2):c.3209T>C (p.Leu1070Pro) http://identifiers.org/clinvar/215936 ^@ NM_024675.3(PALB2):c.3202-9C>T http://identifiers.org/clinvar/216751 ^@ NM_024675.3(PALB2):c.3172T>G (p.Ser1058Ala) http://identifiers.org/clinvar/216750 ^@ NM_024675.3(PALB2):c.3103A>G (p.Ile1035Val) http://identifiers.org/clinvar/215935 ^@ NM_024675.3(PALB2):c.2997-9T>C http://identifiers.org/clinvar/215934 ^@ NM_024675.3(PALB2):c.2996+9delA http://identifiers.org/clinvar/216749 ^@ NM_024675.3(PALB2):c.2935A>C (p.Ser979Arg) http://identifiers.org/clinvar/216748 ^@ NM_024675.3(PALB2):c.2763G>C (p.Gln921His) http://identifiers.org/clinvar/215933 ^@ NM_024675.3(PALB2):c.2748+9delG http://identifiers.org/clinvar/215932 ^@ NM_024675.3(PALB2):c.2640C>T (p.Ala880=) http://identifiers.org/clinvar/216747 ^@ NM_024675.3(PALB2):c.2543A>G (p.Asp848Gly) http://identifiers.org/clinvar/216006 ^@ NM_024675.3(PALB2):c.2515-1G>C http://identifiers.org/clinvar/216746 ^@ NM_024675.3(PALB2):c.2506G>T (p.Val836Phe) http://identifiers.org/clinvar/216121 ^@ NM_024675.3(PALB2):c.2470dupT (p.Cys824Leufs) http://identifiers.org/clinvar/216745 ^@ NM_024675.3(PALB2):c.2360C>T (p.Thr787Ile) http://identifiers.org/clinvar/215931 ^@ NM_024675.3(PALB2):c.2229T>C (p.Tyr743=) http://identifiers.org/clinvar/215930 ^@ NM_024675.3(PALB2):c.2178T>C (p.Pro726=) http://identifiers.org/clinvar/216744 ^@ NM_024675.3(PALB2):c.2176C>T (p.Pro726Ser) http://identifiers.org/clinvar/216743 ^@ NM_024675.3(PALB2):c.2140G>A (p.Asp714Asn) http://identifiers.org/clinvar/215929 ^@ NM_024675.3(PALB2):c.1848T>C (p.Asp616=) http://identifiers.org/clinvar/215928 ^@ NM_024675.3(PALB2):c.1839G>A (p.Gln613=) http://identifiers.org/clinvar/215927 ^@ NM_024675.3(PALB2):c.1792C>T (p.Leu598=) http://identifiers.org/clinvar/216742 ^@ NM_024675.3(PALB2):c.1337A>T (p.Asp446Val) http://identifiers.org/clinvar/215926 ^@ NM_024675.3(PALB2):c.1093A>C (p.Arg365=) http://identifiers.org/clinvar/216763 ^@ NM_024675.3(PALB2):c.985C>G (p.Leu329Val) http://identifiers.org/clinvar/216762 ^@ NM_024675.3(PALB2):c.929G>A (p.Ser310Asn) http://identifiers.org/clinvar/216761 ^@ NM_024675.3(PALB2):c.841A>T (p.Ile281Phe) http://identifiers.org/clinvar/216760 ^@ NM_024675.3(PALB2):c.753G>C (p.Gln251His) http://identifiers.org/clinvar/215938 ^@ NM_024675.3(PALB2):c.735G>A (p.Ala245=) http://identifiers.org/clinvar/216759 ^@ NM_024675.3(PALB2):c.511T>A (p.Leu171Met) http://identifiers.org/clinvar/216758 ^@ NM_024675.3(PALB2):c.380A>G (p.His127Arg) http://identifiers.org/clinvar/215937 ^@ NM_024675.3(PALB2):c.351T>C (p.Pro117=) http://identifiers.org/clinvar/215535 ^@ NM_024675.3(PALB2):c.212-10delT http://identifiers.org/clinvar/215538 ^@ NM_032444.2(SLX4):c.4648C>T (p.Arg1550Trp) http://identifiers.org/clinvar/215952 ^@ NM_032444.2(SLX4):c.3774C>T (p.Pro1258=) http://identifiers.org/clinvar/215537 ^@ NM_032444.2(SLX4):c.2854_2855delGCinsAT (p.Ala952Met) http://identifiers.org/clinvar/216801 ^@ NM_032444.2(SLX4):c.1405C>G (p.Pro469Ala) http://identifiers.org/clinvar/215951 ^@ NM_032444.2(SLX4):c.339T>C (p.Ser113=) http://identifiers.org/clinvar/215539 ^@ NM_032575.2(GLIS2):c.70C>A (p.Arg24=) http://identifiers.org/clinvar/216802 ^@ NM_032575.2(GLIS2):c.1105G>A (p.Gly369Ser) http://identifiers.org/clinvar/216780 ^@ NM_031885.3(BBS2):c.1523A>C (p.Gln508Pro) http://identifiers.org/clinvar/216596 ^@ NM_004360.4(CDH1):c.61C>T (p.Leu21Phe) http://identifiers.org/clinvar/215832 ^@ NM_004360.4(CDH1):c.163+8C>T http://identifiers.org/clinvar/215836 ^@ NM_004360.4(CDH1):c.510A>G (p.Pro170=) http://identifiers.org/clinvar/215837 ^@ NM_004360.4(CDH1):c.690C>T (p.Leu230=) http://identifiers.org/clinvar/215838 ^@ NM_004360.4(CDH1):c.708A>C (p.Ser236=) http://identifiers.org/clinvar/216597 ^@ NM_004360.4(CDH1):c.866C>T (p.Ala289Val) http://identifiers.org/clinvar/216586 ^@ NM_004360.4(CDH1):c.1240A>G (p.Thr414Ala) http://identifiers.org/clinvar/216587 ^@ NM_004360.4(CDH1):c.1446A>T (p.Glu482Asp) http://identifiers.org/clinvar/216588 ^@ NM_004360.4(CDH1):c.1565C>T (p.Thr522Ile) http://identifiers.org/clinvar/216589 ^@ NM_004360.4(CDH1):c.1613A>T (p.Asp538Val) http://identifiers.org/clinvar/216590 ^@ NM_004360.4(CDH1):c.1633C>G (p.Arg545Gly) http://identifiers.org/clinvar/215833 ^@ NM_004360.4(CDH1):c.1711+9G>A http://identifiers.org/clinvar/215834 ^@ NM_004360.4(CDH1):c.1936+8C>T http://identifiers.org/clinvar/216591 ^@ NM_004360.4(CDH1):c.2164+3A>G http://identifiers.org/clinvar/215835 ^@ NM_004360.4(CDH1):c.2164+10G>C http://identifiers.org/clinvar/216592 ^@ NM_004360.4(CDH1):c.2165-10A>C http://identifiers.org/clinvar/216593 ^@ NM_004360.4(CDH1):c.2201G>C (p.Arg734Thr) http://identifiers.org/clinvar/216594 ^@ NM_004360.4(CDH1):c.2497T>C (p.Phe833Leu) http://identifiers.org/clinvar/216595 ^@ NM_004360.4(CDH1):c.2595G>C (p.Trp865Cys) http://identifiers.org/clinvar/215831 ^@ NM_004360.4(CDH1):c.*8G>A http://identifiers.org/clinvar/216548 ^@ NM_001605.2(AARS):c.2628G>C (p.Lys876Asn) http://identifiers.org/clinvar/215498 ^@ NM_001605.2(AARS):c.2608-6C>A http://identifiers.org/clinvar/216547 ^@ NM_001605.2(AARS):c.2275G>A (p.Glu759Lys) http://identifiers.org/clinvar/216546 ^@ NM_001605.2(AARS):c.1680G>C (p.Glu560Asp) http://identifiers.org/clinvar/215497 ^@ NM_001605.2(AARS):c.1672-4T>A http://identifiers.org/clinvar/216549 ^@ NM_001605.2(AARS):c.700C>T (p.Pro234Ser) http://identifiers.org/clinvar/215544 ^@ NM_178452.5(DNAAF1):c.112G>A (p.Gly38Ser) http://identifiers.org/clinvar/216830 ^@ NM_178452.5(DNAAF1):c.1191G>C (p.Glu397Asp) http://identifiers.org/clinvar/216878 ^@ NM_178452.5(DNAAF1):c.1306_1307ins156 http://identifiers.org/clinvar/216831 ^@ NM_178452.5(DNAAF1):c.1354C>A (p.Pro452Thr) http://identifiers.org/clinvar/215972 ^@ NM_178452.5(DNAAF1):c.2065+8C>T http://identifiers.org/clinvar/215504 ^@ NM_003119.3(SPG7):c.618+3_618+60del http://identifiers.org/clinvar/216088 ^@ NM_003119.3(SPG7):c.1408C>T (p.Arg470Ter) http://identifiers.org/clinvar/216571 ^@ NM_003119.3(SPG7):c.1996G>C (p.Gly666Arg) http://identifiers.org/clinvar/215634 ^@ NM_000135.2(FANCA):c.3981C>T (p.His1327=) http://identifiers.org/clinvar/216278 ^@ NM_000135.2(FANCA):c.3703C>G (p.Gln1235Glu) http://identifiers.org/clinvar/215981 ^@ NM_000135.2(FANCA):c.2606A>C (p.Gln869Pro) http://identifiers.org/clinvar/216108 ^@ NM_007294.3(BRCA1):c.5278-?_*(1_?)del http://identifiers.org/clinvar/216004 ^@ NM_007294.3(BRCA1):c.4987-?_5193+?del http://identifiers.org/clinvar/216103 ^@ NM_007294.3(BRCA1):c.4186-?_5193+?del http://identifiers.org/clinvar/216101 ^@ NM_007294.3(BRCA1):c.135-?_5193+?del http://identifiers.org/clinvar/216106 ^@ NM_007294.3(BRCA1):c.4676-?_5074+?del http://identifiers.org/clinvar/216100 ^@ NM_007294.3(BRCA1):c.(?_-1)_5074+?del http://identifiers.org/clinvar/216104 ^@ NM_007294.3(BRCA1):c.4358-?_4484+?del http://identifiers.org/clinvar/216781 ^@ NM_032043.2(BRIP1):c.(?_-1)_918+?dup http://identifiers.org/clinvar/215728 ^@ NM_000304.3(PMP22):c.152A>G (p.His51Arg) http://identifiers.org/clinvar/215707 ^@ NM_000267.3(NF1):c.129A>C (p.Leu43=) http://identifiers.org/clinvar/215715 ^@ NM_000267.3(NF1):c.468C>T (p.Arg156=) http://identifiers.org/clinvar/215718 ^@ NM_000267.3(NF1):c.525T>C (p.His175=) http://identifiers.org/clinvar/216408 ^@ NM_000267.3(NF1):c.593C>A (p.Ala198Glu) http://identifiers.org/clinvar/215725 ^@ NM_000267.3(NF1):c.731-6A>C http://identifiers.org/clinvar/216415 ^@ NM_000267.3(NF1):c.823A>T (p.Ile275Phe) http://identifiers.org/clinvar/216060 ^@ NM_000267.3(NF1):c.1058delT (p.Lys354Argfs) http://identifiers.org/clinvar/215708 ^@ NM_000267.3(NF1):c.1528-10T>C http://identifiers.org/clinvar/215709 ^@ NM_000267.3(NF1):c.1548C>G (p.Pro516=) http://identifiers.org/clinvar/216394 ^@ NM_000267.3(NF1):c.1642-449A>G http://identifiers.org/clinvar/216395 ^@ NM_000267.3(NF1):c.1661A>G (p.Gln554Arg) http://identifiers.org/clinvar/216061 ^@ NM_000267.3(NF1):c.1713G>A (p.Trp571Ter) http://identifiers.org/clinvar/215710 ^@ NM_000267.3(NF1):c.2061A>G (p.Leu687=) http://identifiers.org/clinvar/215463 ^@ NM_000267.3(NF1):c.2252-34T>C http://identifiers.org/clinvar/215462 ^@ NM_000267.3(NF1):c.2252-31A>T http://identifiers.org/clinvar/216396 ^@ NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) http://identifiers.org/clinvar/216397 ^@ NM_000267.3(NF1):c.2297T>G (p.Ile766Ser) http://identifiers.org/clinvar/216398 ^@ NM_000267.3(NF1):c.2342A>T (p.His781Leu) http://identifiers.org/clinvar/215711 ^@ NM_000267.3(NF1):c.2358A>G (p.Gln786=) http://identifiers.org/clinvar/215712 ^@ NM_000267.3(NF1):c.2514C>T (p.Ile838=) http://identifiers.org/clinvar/216399 ^@ NM_000267.3(NF1):c.2690G>C (p.Arg897Pro) http://identifiers.org/clinvar/215989 ^@ NM_000267.3(NF1):c.2850G>C (p.Gln950His) http://identifiers.org/clinvar/216062 ^@ NM_000267.3(NF1):c.3113+1G>T http://identifiers.org/clinvar/216063 ^@ NM_000267.3(NF1):c.3138_3139delAG (p.Asp1047Leufs) http://identifiers.org/clinvar/216400 ^@ NM_000267.3(NF1):c.3287T>C (p.Met1096Thr) http://identifiers.org/clinvar/215988 ^@ NM_000267.3(NF1):c.3314+2T>A http://identifiers.org/clinvar/216401 ^@ NM_000267.3(NF1):c.3590C>T (p.Ala1197Val) http://identifiers.org/clinvar/216402 ^@ NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) http://identifiers.org/clinvar/215990 ^@ NM_000267.3(NF1):c.3974G>C (p.Arg1325Thr) http://identifiers.org/clinvar/215713 ^@ NM_000267.3(NF1):c.3990G>A (p.Glu1330=) http://identifiers.org/clinvar/216864 ^@ NM_000267.3(NF1):c.4017_4019delCCT (p.Leu1340del) http://identifiers.org/clinvar/215714 ^@ NM_000267.3(NF1):c.4020T>C (p.Leu1340=) http://identifiers.org/clinvar/216403 ^@ NM_000267.3(NF1):c.4122G>T (p.Gln1374His) http://identifiers.org/clinvar/216064 ^@ NM_000267.3(NF1):c.4483G>T (p.Glu1495Ter) http://identifiers.org/clinvar/216404 ^@ NM_000267.3(NF1):c.4619G>A (p.Ser1540Asn) http://identifiers.org/clinvar/216405 ^@ NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) http://identifiers.org/clinvar/215716 ^@ NM_000267.3(NF1):c.4914C>G (p.Leu1638=) http://identifiers.org/clinvar/216406 ^@ NM_000267.3(NF1):c.5009A>G (p.Lys1670Arg) http://identifiers.org/clinvar/215717 ^@ NM_000267.3(NF1):c.5206-9A>G http://identifiers.org/clinvar/215719 ^@ NM_000267.3(NF1):c.5508C>T (p.Ile1836=) http://identifiers.org/clinvar/216407 ^@ NM_000267.3(NF1):c.5599A>T (p.Ile1867Phe) http://identifiers.org/clinvar/215720 ^@ NM_000267.3(NF1):c.5749+8A>G http://identifiers.org/clinvar/216065 ^@ NM_000267.3(NF1):c.5749+332A>G http://identifiers.org/clinvar/215721 ^@ NM_000267.3(NF1):c.5802T>C (p.Asn1934=) http://identifiers.org/clinvar/216865 ^@ NM_000267.3(NF1):c.5844_5845delAA (p.Arg1949Serfs) http://identifiers.org/clinvar/215722 ^@ NM_000267.3(NF1):c.5847A>G (p.Arg1949=) http://identifiers.org/clinvar/215465 ^@ NM_000267.3(NF1):c.6084+8C>G http://identifiers.org/clinvar/216866 ^@ NM_000267.3(NF1):c.6789_6792delTTAC (p.Tyr2264Thrfs) http://identifiers.org/clinvar/215723 ^@ NM_000267.3(NF1):c.6807G>T (p.Leu2269=) http://identifiers.org/clinvar/215724 ^@ NM_000267.3(NF1):c.6858+10G>A http://identifiers.org/clinvar/216409 ^@ NM_000267.3(NF1):c.6889G>T (p.Val2297Leu) http://identifiers.org/clinvar/216066 ^@ NM_000267.3(NF1):c.6999+1G>A http://identifiers.org/clinvar/216410 ^@ NM_000267.3(NF1):c.7307A>G (p.His2436Arg) http://identifiers.org/clinvar/216411 ^@ NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) http://identifiers.org/clinvar/216412 ^@ NM_000267.3(NF1):c.7369A>G (p.Ile2457Val) http://identifiers.org/clinvar/216067 ^@ NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter) http://identifiers.org/clinvar/216867 ^@ NM_000267.3(NF1):c.7734dupT (p.Glu2579Terfs) http://identifiers.org/clinvar/215726 ^@ NM_000267.3(NF1):c.8051-70A>T http://identifiers.org/clinvar/216413 ^@ NM_000267.3(NF1):c.8076G>A (p.Arg2692=) http://identifiers.org/clinvar/216414 ^@ NM_000267.3(NF1):c.8159C>T (p.Thr2720Met) http://identifiers.org/clinvar/216675 ^@ NM_007294.3(BRCA1):c.5309G>C (p.Gly1770Ala) http://identifiers.org/clinvar/216674 ^@ NM_007294.3(BRCA1):c.5269G>C (p.Asp1757His) http://identifiers.org/clinvar/216673 ^@ NM_007294.3(BRCA1):c.5107T>C (p.Tyr1703His) http://identifiers.org/clinvar/216672 ^@ NM_007294.3(BRCA1):c.5036T>C (p.Leu1679Pro) http://identifiers.org/clinvar/215875 ^@ NM_007294.3(BRCA1):c.4902G>A (p.Arg1634=) http://identifiers.org/clinvar/216671 ^@ NM_007294.3(BRCA1):c.4841C>T (p.Pro1614Leu) http://identifiers.org/clinvar/216670 ^@ NM_007294.3(BRCA1):c.4693G>A (p.Glu1565Lys) http://identifiers.org/clinvar/216669 ^@ NM_007294.3(BRCA1):c.4541C>T (p.Ser1514Phe) http://identifiers.org/clinvar/215874 ^@ NM_007294.3(BRCA1):c.4485-10A>G http://identifiers.org/clinvar/216105 ^@ NM_007294.3(BRCA1):c.4474G>T (p.Gly1492Ter) http://identifiers.org/clinvar/216668 ^@ NM_007294.3(BRCA1):c.4315C>T (p.Leu1439Phe) http://identifiers.org/clinvar/216667 ^@ NM_007294.3(BRCA1):c.4193A>G (p.Asp1398Gly) http://identifiers.org/clinvar/216665 ^@ NM_007294.3(BRCA1):c.3707A>G (p.Asn1236Ser) http://identifiers.org/clinvar/216664 ^@ NM_007294.3(BRCA1):c.3700G>C (p.Val1234Leu) http://identifiers.org/clinvar/216663 ^@ NM_007294.3(BRCA1):c.3496G>C (p.Ala1166Pro) http://identifiers.org/clinvar/215872 ^@ NM_007294.3(BRCA1):c.3423T>C (p.His1141=) http://identifiers.org/clinvar/216662 ^@ NM_007294.3(BRCA1):c.3356C>G (p.Thr1119Ser) http://identifiers.org/clinvar/216661 ^@ NM_007294.3(BRCA1):c.3092T>G (p.Ile1031Ser) http://identifiers.org/clinvar/216659 ^@ NM_007294.3(BRCA1):c.2933A>G (p.Tyr978Cys) http://identifiers.org/clinvar/216658 ^@ NM_007294.3(BRCA1):c.2750T>G (p.Ile917Ser) http://identifiers.org/clinvar/216656 ^@ NM_007294.3(BRCA1):c.2554C>G (p.Leu852Val) http://identifiers.org/clinvar/216873 ^@ NM_007294.3(BRCA1):c.2155_2163delAAAGAATTT (p.Lys719_Phe721del) http://identifiers.org/clinvar/216102 ^@ NM_007294.3(BRCA1):c.2043dupT (p.Asn682Terfs) http://identifiers.org/clinvar/216655 ^@ NM_007294.3(BRCA1):c.1837A>G (p.Arg613Gly) http://identifiers.org/clinvar/216654 ^@ NM_007294.3(BRCA1):c.1134C>A (p.Ser378Arg) http://identifiers.org/clinvar/215867 ^@ NM_007294.3(BRCA1):c.1017G>A (p.Lys339=) http://identifiers.org/clinvar/216676 ^@ NM_007294.3(BRCA1):c.941C>T (p.Ala314Val) http://identifiers.org/clinvar/215876 ^@ NM_007294.3(BRCA1):c.593+8A>G http://identifiers.org/clinvar/216107 ^@ NM_007294.3(BRCA1):c.490delA (p.Thr164Leufs) http://identifiers.org/clinvar/215873 ^@ NM_007294.3(BRCA1):c.441+18C>T http://identifiers.org/clinvar/216666 ^@ NM_007294.3(BRCA1):c.410T>C (p.Leu137Pro) http://identifiers.org/clinvar/216660 ^@ NM_007294.3(BRCA1):c.301+12A>C http://identifiers.org/clinvar/216657 ^@ NM_007294.3(BRCA1):c.274G>C (p.Ala92Pro) http://identifiers.org/clinvar/215871 ^@ NM_007294.3(BRCA1):c.243A>G (p.Gln81=) http://identifiers.org/clinvar/215869 ^@ NM_007294.3(BRCA1):c.135-11A>G http://identifiers.org/clinvar/215870 ^@ NM_007294.3(BRCA1):c.135-16T>G http://identifiers.org/clinvar/215868 ^@ NM_007294.3(BRCA1):c.134+15G>A http://identifiers.org/clinvar/215877 ^@ NM_007294.3(BRCA1):c.81-17C>G http://identifiers.org/clinvar/216798 ^@ NM_058216.2(RAD51C):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/216806 ^@ NM_058216.2(RAD51C):c.61C>T (p.Pro21Ser) http://identifiers.org/clinvar/216803 ^@ NM_058216.2(RAD51C):c.106G>A (p.Glu36Lys) http://identifiers.org/clinvar/215954 ^@ NM_058216.2(RAD51C):c.351A>G (p.Leu117=) http://identifiers.org/clinvar/215955 ^@ NM_058216.2(RAD51C):c.357A>G (p.Lys119=) http://identifiers.org/clinvar/215956 ^@ NM_058216.2(RAD51C):c.400T>C (p.Leu134=) http://identifiers.org/clinvar/215957 ^@ NM_058216.2(RAD51C):c.417A>G (p.Ala139=) http://identifiers.org/clinvar/216805 ^@ NM_058216.2(RAD51C):c.571+5G>A http://identifiers.org/clinvar/216877 ^@ NM_058216.2(RAD51C):c.670_705+64dup http://identifiers.org/clinvar/216807 ^@ NM_058216.2(RAD51C):c.705G>T (p.Lys235Asn) http://identifiers.org/clinvar/215958 ^@ NM_058216.2(RAD51C):c.705+10A>G http://identifiers.org/clinvar/216808 ^@ NM_058216.2(RAD51C):c.718A>T (p.Ile240Leu) http://identifiers.org/clinvar/215959 ^@ NM_058216.2(RAD51C):c.756A>G (p.Leu252=) http://identifiers.org/clinvar/216132 ^@ NM_058216.2(RAD51C):c.905-2A>C http://identifiers.org/clinvar/216804 ^@ NM_058216.2(RAD51C):c.1092C>G (p.Ser364Arg) http://identifiers.org/clinvar/216799 ^@ NM_032043.2(BRIP1):c.3525dupT (p.Ile1176Tyrfs) http://identifiers.org/clinvar/216797 ^@ NM_032043.2(BRIP1):c.3080A>C (p.Glu1027Ala) http://identifiers.org/clinvar/215950 ^@ NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) http://identifiers.org/clinvar/216796 ^@ NM_032043.2(BRIP1):c.3039T>A (p.Thr1013=) http://identifiers.org/clinvar/216795 ^@ NM_032043.2(BRIP1):c.2833G>C (p.Glu945Gln) http://identifiers.org/clinvar/216793 ^@ NM_032043.2(BRIP1):c.2800T>G (p.Phe934Val) http://identifiers.org/clinvar/216792 ^@ NM_032043.2(BRIP1):c.2662C>T (p.His888Tyr) http://identifiers.org/clinvar/216789 ^@ NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) http://identifiers.org/clinvar/216788 ^@ NM_032043.2(BRIP1):c.2464T>C (p.Tyr822His) http://identifiers.org/clinvar/216787 ^@ NM_032043.2(BRIP1):c.2349A>T (p.Gly783=) http://identifiers.org/clinvar/215948 ^@ NM_032043.2(BRIP1):c.1758T>C (p.Val586=) http://identifiers.org/clinvar/215947 ^@ NM_032043.2(BRIP1):c.1474-9T>G http://identifiers.org/clinvar/216786 ^@ NM_032043.2(BRIP1):c.1446C>G (p.Ile482Met) http://identifiers.org/clinvar/216130 ^@ NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter) http://identifiers.org/clinvar/216129 ^@ NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) http://identifiers.org/clinvar/215946 ^@ NM_032043.2(BRIP1):c.1287T>C (p.Asn429=) http://identifiers.org/clinvar/216128 ^@ NM_032043.2(BRIP1):c.1236delA (p.Val413Phefs) http://identifiers.org/clinvar/216785 ^@ NM_032043.2(BRIP1):c.1198G>T (p.Asp400Tyr) http://identifiers.org/clinvar/216784 ^@ NM_032043.2(BRIP1):c.1171A>G (p.Ile391Val) http://identifiers.org/clinvar/216783 ^@ NM_032043.2(BRIP1):c.1153C>A (p.Leu385Met) http://identifiers.org/clinvar/216782 ^@ NM_032043.2(BRIP1):c.1021G>A (p.Val341Ile) http://identifiers.org/clinvar/216800 ^@ NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) http://identifiers.org/clinvar/216794 ^@ NM_032043.2(BRIP1):c.281A>G (p.Asp94Gly) http://identifiers.org/clinvar/216791 ^@ NM_032043.2(BRIP1):c.260G>C (p.Cys87Ser) http://identifiers.org/clinvar/216790 ^@ NM_032043.2(BRIP1):c.260G>A (p.Cys87Tyr) http://identifiers.org/clinvar/215949 ^@ NM_032043.2(BRIP1):c.205+3A>G http://identifiers.org/clinvar/215774 ^@ NM_000891.2(KCNJ2):c.1215C>T (p.Asp405=) http://identifiers.org/clinvar/215923 ^@ NM_023036.4(DNAI2):c.522C>T (p.Gly174=) http://identifiers.org/clinvar/216463 ^@ NM_000546.5(TP53):c.1136G>T (p.Arg379Leu) http://identifiers.org/clinvar/215996 ^@ NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) http://identifiers.org/clinvar/216079 ^@ NM_000546.5(TP53):c.973G>T (p.Gly325Ter) http://identifiers.org/clinvar/216475 ^@ NM_000546.5(TP53):c.964C>T (p.Pro322Ser) http://identifiers.org/clinvar/216474 ^@ NM_000546.5(TP53):c.919+5G>C http://identifiers.org/clinvar/216473 ^@ NM_000546.5(TP53):c.904G>C (p.Gly302Arg) http://identifiers.org/clinvar/216472 ^@ NM_000546.5(TP53):c.868C>T (p.Arg290Cys) http://identifiers.org/clinvar/216471 ^@ NM_000546.5(TP53):c.851C>T (p.Thr284Ile) http://identifiers.org/clinvar/215997 ^@ NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) http://identifiers.org/clinvar/216470 ^@ NM_000546.5(TP53):c.783T>C (p.Ser261=) http://identifiers.org/clinvar/216469 ^@ NM_000546.5(TP53):c.706T>C (p.Tyr236His) http://identifiers.org/clinvar/216078 ^@ NM_000546.5(TP53):c.672+1G>A http://identifiers.org/clinvar/216468 ^@ NM_000546.5(TP53):c.589G>T (p.Val197Leu) http://identifiers.org/clinvar/216467 ^@ NM_000546.5(TP53):c.587G>A (p.Arg196Gln) http://identifiers.org/clinvar/216077 ^@ NM_000546.5(TP53):c.584T>C (p.Ile195Thr) http://identifiers.org/clinvar/215474 ^@ NM_000546.5(TP53):c.560-8G>C http://identifiers.org/clinvar/215763 ^@ NM_000546.5(TP53):c.450A>G (p.Thr150=) http://identifiers.org/clinvar/216466 ^@ NM_000546.5(TP53):c.388C>T (p.Leu130Phe) http://identifiers.org/clinvar/216465 ^@ NM_000546.5(TP53):c.374C>A (p.Thr125Lys) http://identifiers.org/clinvar/215761 ^@ NM_000546.5(TP53):c.270C>T (p.Ser90=) http://identifiers.org/clinvar/215760 ^@ NM_000546.5(TP53):c.168A>G (p.Glu56=) http://identifiers.org/clinvar/216464 ^@ NM_000546.5(TP53):c.149T>C (p.Ile50Thr) http://identifiers.org/clinvar/215764 ^@ NM_000546.5(TP53):c.90C>T (p.Asn30=) http://identifiers.org/clinvar/215762 ^@ NM_000546.5(TP53):c.27C>T (p.Ser9=) http://identifiers.org/clinvar/216700 ^@ NM_017950.3(CCDC40):c.662T>C (p.Val221Ala) http://identifiers.org/clinvar/216701 ^@ NM_017950.3(CCDC40):c.676+5C>A http://identifiers.org/clinvar/216118 ^@ NM_017950.3(CCDC40):c.961C>T (p.Arg321Ter) http://identifiers.org/clinvar/216698 ^@ NM_017950.3(CCDC40):c.1200T>A (p.His400Gln) http://identifiers.org/clinvar/215523 ^@ NM_017950.3(CCDC40):c.1673C>G (p.Thr558Arg) http://identifiers.org/clinvar/215524 ^@ NM_017950.3(CCDC40):c.1889_1890delCTinsTG (p.Ala630Val) http://identifiers.org/clinvar/215897 ^@ NM_017950.3(CCDC40):c.2017G>A (p.Asp673Asn) http://identifiers.org/clinvar/215898 ^@ NM_017950.3(CCDC40):c.2226C>T (p.Ser742=) http://identifiers.org/clinvar/216699 ^@ NM_017950.3(CCDC40):c.2585G>A (p.Arg862Gln) http://identifiers.org/clinvar/216117 ^@ NM_017950.3(CCDC40):c.3097A>T (p.Lys1033Ter) http://identifiers.org/clinvar/216602 ^@ NM_005359.5(SMAD4):c.127T>G (p.Leu43Val) http://identifiers.org/clinvar/215843 ^@ NM_005359.5(SMAD4):c.375T>C (p.Ser125=) http://identifiers.org/clinvar/216603 ^@ NM_005359.5(SMAD4):c.634G>A (p.Ala212Thr) http://identifiers.org/clinvar/215844 ^@ NM_005359.5(SMAD4):c.693C>T (p.Gly231=) http://identifiers.org/clinvar/216604 ^@ NM_005359.5(SMAD4):c.871C>T (p.His291Tyr) http://identifiers.org/clinvar/216605 ^@ NM_005359.5(SMAD4):c.956-3T>C http://identifiers.org/clinvar/215842 ^@ NM_005359.5(SMAD4):c.1059C>T (p.Tyr353=) http://identifiers.org/clinvar/216093 ^@ NM_005359.5(SMAD4):c.1142T>A (p.Leu381Ter) http://identifiers.org/clinvar/215776 ^@ NM_001005360.2(DNM2):c.90C>T (p.Asp30=) http://identifiers.org/clinvar/215775 ^@ NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) http://identifiers.org/clinvar/215738 ^@ NM_000455.4(STK11):c.42G>A (p.Glu14=) http://identifiers.org/clinvar/215745 ^@ NM_000455.4(STK11):c.99G>A (p.Glu33=) http://identifiers.org/clinvar/216429 ^@ NM_000455.4(STK11):c.290+3A>G http://identifiers.org/clinvar/216430 ^@ NM_000455.4(STK11):c.317G>T (p.Arg106Leu) http://identifiers.org/clinvar/215737 ^@ NM_000455.4(STK11):c.374+9T>A http://identifiers.org/clinvar/216431 ^@ NM_000455.4(STK11):c.439C>T (p.Arg147Cys) http://identifiers.org/clinvar/216432 ^@ NM_000455.4(STK11):c.464+8C>T http://identifiers.org/clinvar/215739 ^@ NM_000455.4(STK11):c.597+9G>A http://identifiers.org/clinvar/215740 ^@ NM_000455.4(STK11):c.598-7G>A http://identifiers.org/clinvar/216070 ^@ NM_000455.4(STK11):c.719C>A (p.Ser240Ter) http://identifiers.org/clinvar/215741 ^@ NM_000455.4(STK11):c.735-9G>A http://identifiers.org/clinvar/215992 ^@ NM_000455.4(STK11):c.863-1G>A http://identifiers.org/clinvar/216435 ^@ NM_000455.4(STK11):c.902G>A (p.Arg301Gln) http://identifiers.org/clinvar/215742 ^@ NM_000455.4(STK11):c.920+7G>A http://identifiers.org/clinvar/215744 ^@ NM_000455.4(STK11):c.921-9C>T http://identifiers.org/clinvar/215743 ^@ NM_000455.4(STK11):c.921-8G>A http://identifiers.org/clinvar/216426 ^@ NM_000455.4(STK11):c.1167C>T (p.Ala389=) http://identifiers.org/clinvar/216427 ^@ NM_000455.4(STK11):c.1174A>G (p.Met392Val) http://identifiers.org/clinvar/215736 ^@ NM_000455.4(STK11):c.1179C>T (p.Asn393=) http://identifiers.org/clinvar/216428 ^@ NM_000455.4(STK11):c.1286C>G (p.Ala429Gly) http://identifiers.org/clinvar/215496 ^@ NM_001492.5(GDF1):c.468_470dupGGC (p.Ala158_Pro159insAla) http://identifiers.org/clinvar/215916 ^@ NM_021175.3(HAMP):c.54C>T (p.Leu18=) http://identifiers.org/clinvar/216876 ^@ NM_021175.3(HAMP):c.92C>T (p.Thr31Met) http://identifiers.org/clinvar/216732 ^@ NM_021175.3(HAMP):c.218G>A (p.Cys73Tyr) http://identifiers.org/clinvar/215547 ^@ NM_181882.2(PRX):c.4077_4079delGGA (p.Glu1361del) http://identifiers.org/clinvar/216835 ^@ NM_181882.2(PRX):c.3496C>T (p.Pro1166Ser) http://identifiers.org/clinvar/215973 ^@ NM_181882.2(PRX):c.2292C>T (p.Pro764=) http://identifiers.org/clinvar/216834 ^@ NM_181882.2(PRX):c.2254G>A (p.Glu752Lys) http://identifiers.org/clinvar/216833 ^@ NM_181882.2(PRX):c.1837G>A (p.Val613Met) http://identifiers.org/clinvar/215546 ^@ NM_181882.2(PRX):c.1836C>T (p.Ala612=) http://identifiers.org/clinvar/215545 ^@ NM_181882.2(PRX):c.1483G>C (p.Glu495Gln) http://identifiers.org/clinvar/216837 ^@ NM_181882.2(PRX):c.994A>G (p.Thr332Ala) http://identifiers.org/clinvar/216836 ^@ NM_181882.2(PRX):c.823C>A (p.Leu275Ile) http://identifiers.org/clinvar/215945 ^@ NM_030973.3(MED25):c.664C>T (p.Leu222=) http://identifiers.org/clinvar/216779 ^@ NM_030973.3(MED25):c.1438C>G (p.Leu480Val) http://identifiers.org/clinvar/215536 ^@ NM_030973.3(MED25):c.1794C>T (p.Ala598=) http://identifiers.org/clinvar/216424 ^@ NM_000363.4(TNNI3):c.307C>G (p.Arg103Gly) http://identifiers.org/clinvar/215903 ^@ NM_018848.3(MKKS):c.1553G>A (p.Arg518His) http://identifiers.org/clinvar/216705 ^@ NM_018848.3(MKKS):c.425T>C (p.Val142Ala) http://identifiers.org/clinvar/215503 ^@ NM_003098.2(SNTA1):c.1426-5T>C http://identifiers.org/clinvar/215902 ^@ NM_020433.4(JPH2):c.1974C>T (p.Ala658=) http://identifiers.org/clinvar/215527 ^@ NM_020433.4(JPH2):c.1704C>T (p.Ser568=) http://identifiers.org/clinvar/216709 ^@ NM_020433.4(JPH2):c.1486C>T (p.Arg496Trp) http://identifiers.org/clinvar/216827 ^@ NM_172107.3(KCNQ2):c.2279G>A (p.Arg760His) http://identifiers.org/clinvar/215971 ^@ NM_172107.3(KCNQ2):c.1764-6C>T http://identifiers.org/clinvar/216644 ^@ NM_007194.3(CHEK2):c.320-?_*(1_?)dup http://identifiers.org/clinvar/216099 ^@ NM_007194.3(CHEK2):c.909-?_1095+?del http://identifiers.org/clinvar/216002 ^@ NM_007194.3(CHEK2):c.320-?_592+?dup http://identifiers.org/clinvar/216642 ^@ NM_007194.3(CHEK2):c.1586G>A (p.Gly529Asp) http://identifiers.org/clinvar/216641 ^@ NM_007194.3(CHEK2):c.1260-8A>G http://identifiers.org/clinvar/216640 ^@ NM_007194.3(CHEK2):c.1028T>C (p.Ile343Thr) http://identifiers.org/clinvar/216639 ^@ NM_007194.3(CHEK2):c.1003G>C (p.Val335Leu) http://identifiers.org/clinvar/216653 ^@ NM_007194.3(CHEK2):c.953G>T (p.Arg318Leu) http://identifiers.org/clinvar/216652 ^@ NM_007194.3(CHEK2):c.846+4_846+7delAGTA http://identifiers.org/clinvar/216651 ^@ NM_007194.3(CHEK2):c.742A>G (p.Ile248Val) http://identifiers.org/clinvar/216650 ^@ NM_007194.3(CHEK2):c.731A>C (p.Lys244Thr) http://identifiers.org/clinvar/216649 ^@ NM_007194.3(CHEK2):c.686G>C (p.Gly229Ala) http://identifiers.org/clinvar/215864 ^@ NM_007194.3(CHEK2):c.683+10T>A http://identifiers.org/clinvar/216003 ^@ NM_007194.3(CHEK2):c.593-1G>T http://identifiers.org/clinvar/215865 ^@ NM_007194.3(CHEK2):c.593-11_593-7delTTCTT http://identifiers.org/clinvar/216648 ^@ NM_007194.3(CHEK2):c.587A>G (p.Asn196Ser) http://identifiers.org/clinvar/216647 ^@ NM_007194.3(CHEK2):c.578T>C (p.Leu193Pro) http://identifiers.org/clinvar/216645 ^@ NM_007194.3(CHEK2):c.320-3C>A http://identifiers.org/clinvar/215866 ^@ NM_007194.3(CHEK2):c.84C>A (p.Ser28=) http://identifiers.org/clinvar/216643 ^@ NM_007194.3(CHEK2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/216735 ^@ NM_022098.3(XPNPEP3):c.891T>G (p.Ile297Met) http://identifiers.org/clinvar/216573 ^@ NM_003611.2(OFD1):c.1399C>A (p.Arg467Ser) http://identifiers.org/clinvar/216069 ^@ NM_000425.4(L1CAM):c.1939A>T (p.Lys647Ter) http://identifiers.org/clinvar/216040 ^@ NM_000166.5(GJB1):c.9G>A (p.Trp3Ter) http://identifiers.org/clinvar/215983 ^@ NM_000166.5(GJB1):c.83T>A (p.Ile28Asn) http://identifiers.org/clinvar/216292 ^@ NM_000166.5(GJB1):c.113T>G (p.Val38Gly) http://identifiers.org/clinvar/216293 ^@ NM_000166.5(GJB1):c.163A>G (p.Thr55Ala) http://identifiers.org/clinvar/216038 ^@ NM_000166.5(GJB1):c.305A>G (p.Glu102Gly) http://identifiers.org/clinvar/216039 ^@ NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) http://identifiers.org/clinvar/215466 ^@ NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup http://identifiers.org/clinvar/215968 ^@ NM_139241.3(FGD4):c.255A>T (p.Ala85=) http://identifiers.org/clinvar/216034 ^@ NM_000077.4(CDKN2A):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/216083 ^@ NM_001369.2(DNAH5):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/216089 ^@ NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/216092 ^@ NM_005359.5(SMAD4):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/216098 ^@ NM_007194.3(CHEK2):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/216131 ^@ NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/216516 ^@ NM_001128425.1(MUTYH):c.(?_-1)_(*1_?)dup http://identifiers.org/clinvar/216638 ^@ NM_007194.3(CHEK2):c.(?_-1)_(*1_?)dup http://identifiers.org/clinvar/216711 ^@ NM_020975.4(RET):c.(?_-1)_(*1_?)dup http://identifiers.org/clinvar/216958 ^@ NM_170707.3(LMNA):c.810+1G>C http://identifiers.org/clinvar/216904 ^@ NM_000085.4(CLCNKB):c.1897delC (p.Leu633Terfs) http://identifiers.org/clinvar/216963 ^@ NM_000530.7(MPZ):c.451C>A (p.Pro151Thr) http://identifiers.org/clinvar/216912 ^@ NM_201253.2(CRB1):c.2227G>C (p.Val743Leu) http://identifiers.org/clinvar/217027 ^@ NM_206933.2(USH2A):c.9827C>G (p.Ser3276Ter) http://identifiers.org/clinvar/242532 ^@ NM_152490.4(B3GALNT2):c.1438_1455dup18 (p.Trp485_Lys486insGluLeuThrGluLeuTrp) http://identifiers.org/clinvar/242531 ^@ NM_152490.4(B3GALNT2):c.979G>A (p.Asp327Asn) http://identifiers.org/clinvar/216897 ^@ NM_015215.3(CAMTA1):c.3230A>G (p.Tyr1077Cys) http://identifiers.org/clinvar/216961 ^@ NM_006343.2(MERTK):c.2192T>C (p.Leu731Ser) http://identifiers.org/clinvar/217029 ^@ NM_014795.3(ZEB2):c.2932G>T (p.Asp978Tyr) http://identifiers.org/clinvar/217030 ^@ NM_014795.3(ZEB2):c.2180delT (p.Leu727Tyrfs) http://identifiers.org/clinvar/216885 ^@ NM_001105.4(ACVR1):c.772A>G (p.Arg258Gly) http://identifiers.org/clinvar/216916 ^@ NM_025000.3(DCAF17):c.289dupA (p.Ile97Asnfs) http://identifiers.org/clinvar/242530 ^@ NM_133378.4(TTN):c.99250C>T (p.Arg33084Ter) http://identifiers.org/clinvar/242529 ^@ NM_133378.4(TTN):c.98049dupA (p.Arg32684Thrfs) http://identifiers.org/clinvar/223308 ^@ NM_133378.4(TTN):c.38532C>A (p.Cys12844Ter) http://identifiers.org/clinvar/242528 ^@ NM_201548.4(CERKL):c.674A>T (p.Asp225Val) http://identifiers.org/clinvar/216910 ^@ NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter) http://identifiers.org/clinvar/216941 ^@ NM_002156.4(HSPD1):c.1607C>T (p.Ala536Val) http://identifiers.org/clinvar/216996 ^@ NM_015265.3(SATB2):c.1169C>T (p.Thr390Ile) http://identifiers.org/clinvar/216947 ^@ NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) http://identifiers.org/clinvar/216934 ^@ NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val) http://identifiers.org/clinvar/229079 ^@ NM_194248.2(OTOF):c.3928_3930dupAAG (p.Lys1310_Gly1311insLys) http://identifiers.org/clinvar/217003 ^@ NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) http://identifiers.org/clinvar/217004 ^@ NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) http://identifiers.org/clinvar/217226 ^@ NM_003494.3(DYSF):c.3516_3517delTT (p.Ser1173Terfs) http://identifiers.org/clinvar/242527 ^@ NM_003494.3(DYSF):c.5078G>A (p.Arg1693Gln) http://identifiers.org/clinvar/242526 ^@ NM_145199.2(LIPT1):c.806G>A (p.Trp269Ter) http://identifiers.org/clinvar/242525 ^@ NM_145199.2(LIPT1):c.980T>G (p.Leu327Ter) http://identifiers.org/clinvar/216969 ^@ NM_053025.3(MYLK):c.2149G>T (p.Asp717Tyr) http://identifiers.org/clinvar/216932 ^@ NM_032638.4(GATA2):c.1122_1125dupCCTC (p.Tyr376Profs) http://identifiers.org/clinvar/216931 ^@ NM_032638.4(GATA2):c.1113C>A (p.Asn371Lys) http://identifiers.org/clinvar/242524 ^@ NM_014049.4(ACAD9):c.359delT (p.Phe120Serfs) http://identifiers.org/clinvar/242523 ^@ NM_014049.4(ACAD9):c.1846C>T (p.Pro616Ser) http://identifiers.org/clinvar/216979 ^@ NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) http://identifiers.org/clinvar/217016 ^@ NM_003242.5(TGFBR2):c.1408T>G (p.Tyr470Asp) http://identifiers.org/clinvar/216915 ^@ NM_001904.3(CTNNB1):c.1271T>G (p.Leu424Arg) http://identifiers.org/clinvar/216945 ^@ NM_002222.5(ITPR1):c.830G>T (p.Ser277Ile) http://identifiers.org/clinvar/242522 ^@ NM_004453.3(ETFDH):c.1487T>C (p.Leu496Pro) http://identifiers.org/clinvar/242521 ^@ NM_173660.4(DOK7):c.1263delC (p.Ser422Hisfs) http://identifiers.org/clinvar/242520 ^@ NM_000087.3(CNGA1):c.652C>T (p.Arg218Ter) http://identifiers.org/clinvar/216977 ^@ NM_022455.4(NSD1):c.2350C>T (p.Gln784Ter) http://identifiers.org/clinvar/216978 ^@ NM_022455.4(NSD1):c.5304-1G>C http://identifiers.org/clinvar/242519 ^@ NM_016180.4(SLC45A2):c.1454T>C (p.Leu485Pro) http://identifiers.org/clinvar/242518 ^@ NM_016180.4(SLC45A2):c.264delC (p.Gly89Aspfs) http://identifiers.org/clinvar/216959 ^@ NM_005921.1(MAP3K1):c.770C>T (p.Pro257Leu) http://identifiers.org/clinvar/216974 ^@ NM_005654.5(NR2F1):c.382T>C (p.Cys128Arg) http://identifiers.org/clinvar/242517 ^@ NM_000426.3(LAMA2):c.523G>T (p.Glu175Ter) http://identifiers.org/clinvar/242516 ^@ NM_017651.4(AHI1):c.2561G>T (p.Cys854Phe) http://identifiers.org/clinvar/242515 ^@ NM_033071.3(SYNE1):c.20050C>T (p.Arg6684Ter) http://identifiers.org/clinvar/242514 ^@ NM_033071.3(SYNE1):c.9646A>T (p.Lys3216Ter) http://identifiers.org/clinvar/242513 ^@ NM_033071.3(SYNE1):c.7938G>A (p.Trp2646Ter) http://identifiers.org/clinvar/242512 ^@ NM_033071.3(SYNE1):c.4482+1G>T http://identifiers.org/clinvar/217011 ^@ NM_033071.3(SYNE1):c.3417-10_3417delGTTATTTCAGAinsC http://identifiers.org/clinvar/217024 ^@ NM_001069.2(TUBB2A):c.872A>C (p.Gln291Pro) http://identifiers.org/clinvar/217018 ^@ NM_019105.6(TNXB):c.6074A>T (p.Asp2025Val) http://identifiers.org/clinvar/217012 ^@ NM_006772.2(SYNGAP1):c.896delG (p.Arg299Profs) http://identifiers.org/clinvar/242511 ^@ NM_000255.3(MUT):c.1891delG (p.Ala631Glnfs) http://identifiers.org/clinvar/216930 ^@ NM_002047.3(GARS):c.998A>T (p.Glu333Val) http://identifiers.org/clinvar/216909 ^@ NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) http://identifiers.org/clinvar/216908 ^@ NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) http://identifiers.org/clinvar/216993 ^@ NM_015713.4(RRM2B):c.635_636insAAG (p.Gly212_Leu213insSer) http://identifiers.org/clinvar/216988 ^@ NM_006265.2(RAD21):c.1808T>C (p.Leu603Pro) http://identifiers.org/clinvar/242510 ^@ NM_018941.3(CLN8):c.212C>T (p.Ala71Val) http://identifiers.org/clinvar/216901 ^@ NM_017780.3(CHD7):c.5199dupT (p.His1734Serfs) http://identifiers.org/clinvar/242509 ^@ NM_018972.2(GDAP1):c.62delA (p.Asp21Alafs) http://identifiers.org/clinvar/242508 ^@ NM_018972.2(GDAP1):c.347T>C (p.Met116Thr) http://identifiers.org/clinvar/242507 ^@ NM_019098.4(CNGB3):c.1193A>G (p.Tyr398Cys) http://identifiers.org/clinvar/216976 ^@ NM_004959.4(NR5A1):c.1210T>G (p.Tyr404Asp) http://identifiers.org/clinvar/216975 ^@ NM_004959.4(NR5A1):c.151G>T (p.Glu51Ter) http://identifiers.org/clinvar/242506 ^@ NM_015046.5(SETX):c.7149_7151delTTGinsAT (p.Asp2383Glufs) http://identifiers.org/clinvar/242505 ^@ NM_015046.5(SETX):c.6106G>A (p.Gly2036Arg) http://identifiers.org/clinvar/217008 ^@ NM_003172.3(SURF1):c.106+1G>C http://identifiers.org/clinvar/216971 ^@ NM_017617.4(NOTCH1):c.2380delG (p.Glu794Serfs) http://identifiers.org/clinvar/217002 ^@ NM_003070.4(SMARCA2):c.1600G>T (p.Asp534Tyr) http://identifiers.org/clinvar/217001 ^@ NM_003070.4(SMARCA2):c.3482A>G (p.His1161Arg) http://identifiers.org/clinvar/217028 ^@ NM_007126.3(VCP):c.463C>G (p.Arg155Gly) http://identifiers.org/clinvar/216936 ^@ NM_000170.2(GLDC):c.1742C>G (p.Pro581Arg) http://identifiers.org/clinvar/242504 ^@ NM_000197.1(HSD17B3):c.194C>T (p.Ser65Leu) http://identifiers.org/clinvar/217007 ^@ NM_016169.3(SUFU):c.111delC (p.Tyr38Thrfs) http://identifiers.org/clinvar/242503 ^@ NM_018706.6(DHTKD1):c.2143C>T (p.Arg715Cys) http://identifiers.org/clinvar/216917 ^@ NM_018706.6(DHTKD1):c.2500C>T (p.Arg834Ter) http://identifiers.org/clinvar/216986 ^@ NM_005041.4(PRF1):c.1337A>C (p.Gln446Pro) http://identifiers.org/clinvar/216946 ^@ NM_012330.3(KAT6B):c.3962_3963delAA (p.Gln1321Argfs) http://identifiers.org/clinvar/216948 ^@ NM_002247.3(KCNMA1):c.1054A>G (p.Thr352Ala) http://identifiers.org/clinvar/242502 ^@ NM_007055.3(POLR3A):c.367_369delAAG (p.Lys123del) http://identifiers.org/clinvar/216987 ^@ NM_000314.6(PTEN):c.860C>G (p.Ser287Ter) http://identifiers.org/clinvar/216982 ^@ NM_006204.3(PDE6C):c.1958T>C (p.Leu653Pro) http://identifiers.org/clinvar/216888 ^@ NM_002860.3(ALDH18A1):c.2294G>A (p.Arg765Gln) http://identifiers.org/clinvar/216951 ^@ NM_001197104.1(KMT2A):c.3651dupG (p.Lys1218Glufs) http://identifiers.org/clinvar/216953 ^@ NM_001197104.1(KMT2A):c.4086+1G>A http://identifiers.org/clinvar/216962 ^@ NM_001197104.1(KMT2A):c.4342T>C (p.Cys1448Arg) http://identifiers.org/clinvar/216952 ^@ NM_001197104.1(KMT2A):c.10334dupC (p.Ser3446Phefs) http://identifiers.org/clinvar/216999 ^@ NM_018389.4(SLC35C1):c.872C>T (p.Thr291Ile) http://identifiers.org/clinvar/216967 ^@ NM_000256.3(MYBPC3):c.2414-1G>A http://identifiers.org/clinvar/242501 ^@ NM_005055.4(RAPSN):c.829A>G (p.Thr277Ala) http://identifiers.org/clinvar/242500 ^@ NM_005055.4(RAPSN):c.524A>G (p.Gln175Arg) http://identifiers.org/clinvar/216970 ^@ NM_002496.3(NDUFS8):c.343A>G (p.Lys115Glu) http://identifiers.org/clinvar/242499 ^@ NM_002180.2(IGHMBP2):c.92G>A (p.Trp31Ter) http://identifiers.org/clinvar/242498 ^@ NM_002180.2(IGHMBP2):c.660A>C (p.Lys220Asn) http://identifiers.org/clinvar/242497 ^@ NM_003824.3(FADD):c.52_58delAGCGAGC (p.Ser18Terfs) http://identifiers.org/clinvar/242496 ^@ NM_003824.3(FADD):c.313T>C (p.Cys105Arg) http://identifiers.org/clinvar/242495 ^@ NM_005591.3(MRE11):c.168G>T (p.Leu56Phe) http://identifiers.org/clinvar/242494 ^@ NM_018082.5(POLR3B):c.1988C>T (p.Thr663Ile) http://identifiers.org/clinvar/216929 ^@ NM_020638.2(FGF23):c.260G>A (p.Gly87Asp) http://identifiers.org/clinvar/216954 ^@ NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter) http://identifiers.org/clinvar/217023 ^@ NM_006009.3(TUBA1A):c.352G>A (p.Val118Met) http://identifiers.org/clinvar/242493 ^@ NM_001172696.1(TSFM):c.355G>C (p.Val119Leu) http://identifiers.org/clinvar/217017 ^@ NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) http://identifiers.org/clinvar/242492 ^@ NM_014363.5(SACS):c.11624G>A (p.Arg3875His) http://identifiers.org/clinvar/242491 ^@ NM_000053.3(ATP7B):c.2950C>G (p.Pro984Ala) http://identifiers.org/clinvar/216921 ^@ NM_001376.4(DYNC1H1):c.4700G>T (p.Arg1567Leu) http://identifiers.org/clinvar/216991 ^@ NM_020366.3(RPGRIP1):c.2896delG (p.Asp966Ilefs) http://identifiers.org/clinvar/216902 ^@ NM_001170629.1(CHD8):c.2317C>T (p.Arg773Ter) http://identifiers.org/clinvar/216903 ^@ NM_001170629.1(CHD8):c.1744C>T (p.Arg582Ter) http://identifiers.org/clinvar/216968 ^@ NM_000257.3(MYH7):c.1544T>C (p.Met515Thr) http://identifiers.org/clinvar/217026 ^@ NM_130838.1(UBE3A):c.2475_2478delACTT (p.Leu825Phefs) http://identifiers.org/clinvar/242490 ^@ NM_000070.2(CAPN3):c.319G>T (p.Glu107Ter) http://identifiers.org/clinvar/217147 ^@ NM_000070.2(CAPN3):c.1319G>A (p.Arg440Gln) http://identifiers.org/clinvar/242489 ^@ NM_000338.2(SLC12A1):c.735C>G (p.Tyr245Ter) http://identifiers.org/clinvar/242488 ^@ NM_000338.2(SLC12A1):c.1522G>A (p.Ala508Thr) http://identifiers.org/clinvar/216965 ^@ NM_139242.3(MTFMT):c.1116delT (p.Pro373Glnfs) http://identifiers.org/clinvar/242487 ^@ NM_020705.2(TBC1D24):c.1218G>C (p.Trp406Cys) http://identifiers.org/clinvar/242486 ^@ NM_020705.2(TBC1D24):c.1270T>C (p.Cys424Arg) http://identifiers.org/clinvar/216927 ^@ NM_024306.4(FA2H):c.517C>T (p.Pro173Ser) http://identifiers.org/clinvar/217006 ^@ NM_003119.3(SPG7):c.1729G>A (p.Gly577Ser) http://identifiers.org/clinvar/242485 ^@ NM_003119.3(SPG7):c.2120delTinsCCAAGTCTGTA (p.Val707Alafs) http://identifiers.org/clinvar/217014 ^@ NM_003673.3(TCAP):c.24_25insGAGGTGT (p.Ser11Terfs) http://identifiers.org/clinvar/216955 ^@ NM_005557.3(KRT16):c.365A>G (p.Gln122Arg) http://identifiers.org/clinvar/242484 ^@ NM_000419.4(ITGA2B):c.439C>G (p.Leu147Val) http://identifiers.org/clinvar/216924 ^@ NM_004247.3(EFTUD2):c.2045+2T>G http://identifiers.org/clinvar/216884 ^@ NM_004035.6(ACOX1):c.176G>C (p.Arg59Pro) http://identifiers.org/clinvar/242483 ^@ NM_000271.4(NPC1):c.3234_3237dupATTT (p.Pro1080Ilefs) http://identifiers.org/clinvar/242482 ^@ NM_000271.4(NPC1):c.2213C>A (p.Ser738Ter) http://identifiers.org/clinvar/217015 ^@ NM_001083962.1(TCF4):c.550-2A>G http://identifiers.org/clinvar/216896 ^@ NM_001127221.1(CACNA1A):c.904G>A (p.Asp302Asn) http://identifiers.org/clinvar/216972 ^@ NM_000435.2(NOTCH3):c.3691C>T (p.Arg1231Cys) http://identifiers.org/clinvar/216913 ^@ NM_004750.4(CRLF1):c.713dupC (p.Pro239Alafs) http://identifiers.org/clinvar/216891 ^@ NM_152296.4(ATP1A3):c.974G>A (p.Gly325Asp) http://identifiers.org/clinvar/216914 ^@ NM_000554.5(CRX):c.124G>A (p.Glu42Lys) http://identifiers.org/clinvar/217025 ^@ NM_006087.3(TUBB4A):c.763G>A (p.Val255Ile) http://identifiers.org/clinvar/242481 ^@ NM_000022.3(ADA):c.780+1G>A http://identifiers.org/clinvar/216937 ^@ NM_000516.5(GNAS):c.880C>T (p.Gln294Ter) http://identifiers.org/clinvar/216949 ^@ NM_172107.3(KCNQ2):c.841G>T (p.Gly281Trp) http://identifiers.org/clinvar/242480 ^@ NM_032957.4(RTEL1):c.1346T>C (p.Ile449Thr) http://identifiers.org/clinvar/216911 ^@ NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) http://identifiers.org/clinvar/217019 ^@ NM_018006.4(TRMU):c.758T>C (p.Leu253Pro) http://identifiers.org/clinvar/216981 ^@ NM_001184880.1(PCDH19):c.457_458delGCinsAT (p.Ala153Ile) http://identifiers.org/clinvar/216926 ^@ NM_000133.3(F9):c.835G>A (p.Ala279Thr) http://identifiers.org/clinvar/216919 ^@ NM_004006.2(DMD):c.4000G>T (p.Gly1334Ter) http://identifiers.org/clinvar/216990 ^@ NM_001034853.1(RPGR):c.3178_3179delGA (p.Glu1060Argfs) http://identifiers.org/clinvar/216894 ^@ NM_017745.5(BCOR):c.4009C>T (p.Gln1337Ter) http://identifiers.org/clinvar/216899 ^@ NM_003688.3(CASK):c.2303-2A>G http://identifiers.org/clinvar/216950 ^@ NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter) http://identifiers.org/clinvar/216942 ^@ NM_031407.6(HUWE1):c.4013C>T (p.Ala1338Val) http://identifiers.org/clinvar/216890 ^@ NM_000044.4(AR):c.1174C>T (p.Pro392Ser) http://identifiers.org/clinvar/216939 ^@ NM_018486.2(HDAC8):c.1006-2A>G http://identifiers.org/clinvar/216895 ^@ NM_153252.4(BRWD3):c.4255T>G (p.Leu1419Val) http://identifiers.org/clinvar/217031 ^@ NM_002017.4(FLI1):c.970C>T (p.Arg324Trp) http://identifiers.org/clinvar/217034 ^@ NM_000267.3(NF1):c.61-16315_479+99del http://identifiers.org/clinvar/217033 ^@ NM_000267.3(NF1):c.61-12088_204+933del http://identifiers.org/clinvar/217105 ^@ NM_000267.3(NF1):c.61-6522_204+1022dup http://identifiers.org/clinvar/217032 ^@ NM_000267.3(NF1):c.61-5189_205-1285del http://identifiers.org/clinvar/217037 ^@ NM_000267.3(NF1):c.205-1284_289-944del http://identifiers.org/clinvar/217039 ^@ NM_000267.3(NF1):c.288+230_480-1812delins323 http://identifiers.org/clinvar/217042 ^@ NM_000267.3(NF1):c.289-1237_586+3325del http://identifiers.org/clinvar/217106 ^@ NM_000267.3(NF1):c.289-1171_888+1963dup http://identifiers.org/clinvar/217040 ^@ NM_000267.3(NF1):c.289-956_586+4999del http://identifiers.org/clinvar/217041 ^@ NM_000267.3(NF1):c.289-950_586+3043del http://identifiers.org/clinvar/217043 ^@ NM_000267.3(NF1):c.480-2989_586+3445del http://identifiers.org/clinvar/217044 ^@ NM_000267.3(NF1):c.480-2832_888+5938delinsTTGAA http://identifiers.org/clinvar/217047 ^@ NM_000267.3(NF1):c.586+2095_1261-2276delinsGTGG http://identifiers.org/clinvar/217048 ^@ NM_000267.3(NF1):c.586+3099_1261-1045del http://identifiers.org/clinvar/217046 ^@ NM_000267.3(NF1):c.587-1766_888+1856del http://identifiers.org/clinvar/217051 ^@ NM_000267.3(NF1):c.655-60_888+5621delins135 http://identifiers.org/clinvar/217054 ^@ NM_000267.3(NF1):c.888+5515_1261-1635del http://identifiers.org/clinvar/217057 ^@ NM_000267.3(NF1):c.888+8334_1721+34delinsTC http://identifiers.org/clinvar/217055 ^@ NM_000267.3(NF1):c.889-8107_1261-278del http://identifiers.org/clinvar/217056 ^@ NM_000267.3(NF1):c.889-894_1261-284del http://identifiers.org/clinvar/217053 ^@ NM_000267.3(NF1):c.889-453_908del http://identifiers.org/clinvar/217064 ^@ NM_000267.3(NF1):c.1393-3329_3975-6377del http://identifiers.org/clinvar/217062 ^@ NM_000267.3(NF1):c.1393-2652_1528-892del http://identifiers.org/clinvar/217063 ^@ NM_000267.3(NF1):c.1393-2488_1642-648delinsAATAG http://identifiers.org/clinvar/217107 ^@ NM_000267.3(NF1):c.1393-1905_2251+85dup http://identifiers.org/clinvar/217108 ^@ NM_000267.3(NF1):c.1527+443_3709-761dup http://identifiers.org/clinvar/217065 ^@ NM_000267.3(NF1):c.1527+1509_1641+1137del http://identifiers.org/clinvar/217066 ^@ NM_000267.3(NF1):c.1528-960_1761del http://identifiers.org/clinvar/217067 ^@ NM_000267.3(NF1):c.1641+156_3975-2222del http://identifiers.org/clinvar/217070 ^@ NM_000267.3(NF1):c.1845+537_4661+331del http://identifiers.org/clinvar/217068 ^@ NM_000267.3(NF1):c.1846-496_2410-645delinsTAGC http://identifiers.org/clinvar/217069 ^@ NM_000267.3(NF1):c.1988_2410-218delinsTGTC http://identifiers.org/clinvar/217109 ^@ NM_000267.3(NF1):c.2252-70_2326-39dup http://identifiers.org/clinvar/217073 ^@ NM_000267.3(NF1):c.2410-110_2850+65delinsAAAA http://identifiers.org/clinvar/217110 ^@ NM_000267.3(NF1):c.2851-151_2990+121dup http://identifiers.org/clinvar/217111 ^@ NM_000267.3(NF1):c.3496+57_4772+2639dup http://identifiers.org/clinvar/217075 ^@ NM_000267.3(NF1):c.3708+598_4772+16224del http://identifiers.org/clinvar/217074 ^@ NM_000267.3(NF1):c.3709-941_3974+2711del http://identifiers.org/clinvar/217078 ^@ NM_000267.3(NF1):c.3975-1922_4111-2448delinsTTTACTTAGGT http://identifiers.org/clinvar/242479 ^@ NM_000267.3(NF1):c.4110+1791_7394+859dup http://identifiers.org/clinvar/242478 ^@ NM_000267.3(NF1):c.4110+1798del http://identifiers.org/clinvar/217080 ^@ NM_000267.3(NF1):c.4368-391_4515-122delins105 http://identifiers.org/clinvar/217081 ^@ NM_000267.3(NF1):c.4662-1076_4772+1300delins260 http://identifiers.org/clinvar/217082 ^@ NM_000267.3(NF1):c.4662-397_4773-14262del http://identifiers.org/clinvar/217085 ^@ NM_000267.3(NF1):c.4773-22561_6311del http://identifiers.org/clinvar/217086 ^@ NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC http://identifiers.org/clinvar/217113 ^@ NM_000267.3(NF1):c.4773-1597_7395-685dup http://identifiers.org/clinvar/217087 ^@ NM_000267.3(NF1):c.4941_7127-2901del http://identifiers.org/clinvar/217089 ^@ NM_000267.3(NF1):c.5546+336_5943+244del http://identifiers.org/clinvar/217096 ^@ NM_000267.3(NF1):c.5749+6_6858+633delins130 http://identifiers.org/clinvar/217097 ^@ NM_000267.3(NF1):c.5749+189_6999+1035del http://identifiers.org/clinvar/217092 ^@ NM_000267.3(NF1):c.5749+750_5943+244del http://identifiers.org/clinvar/217095 ^@ NM_000267.3(NF1):c.5750-1748_6184delinsCTA http://identifiers.org/clinvar/217093 ^@ NM_000267.3(NF1):c.5750-1086_5943+244del http://identifiers.org/clinvar/217091 ^@ NM_000267.3(NF1):c.5750-460_5943+244del http://identifiers.org/clinvar/217094 ^@ NM_000267.3(NF1):c.5750-374_5944-176del http://identifiers.org/clinvar/217098 ^@ NM_000267.3(NF1):c.5943+265_7000-999delins15 http://identifiers.org/clinvar/217099 ^@ NM_000267.3(NF1):c.5943+448_7127-414del http://identifiers.org/clinvar/217100 ^@ NM_000267.3(NF1):c.7000-499_7908-479del http://identifiers.org/clinvar/217101 ^@ NM_000267.3(NF1):c.7258+383_7862del http://identifiers.org/clinvar/217102 ^@ NM_000267.3(NF1):c.7395-600_7552+735del http://identifiers.org/clinvar/217104 ^@ NM_000267.3(NF1):c.7884_8315-5528del http://identifiers.org/clinvar/217114 ^@ NM_000267.3(NF1):c.7907+149_8097+723dup http://identifiers.org/clinvar/217035 ^@ NM_000267.3(NF1):c.60+24136_587-5022del http://identifiers.org/clinvar/217036 ^@ NM_000267.3(NF1):c.60+3120_3975-326del http://identifiers.org/clinvar/217038 ^@ NM_000267.3(NF1):c.204+155_2990+53del http://identifiers.org/clinvar/217045 ^@ NM_000267.3(NF1):c.480-134_8315-6206del http://identifiers.org/clinvar/217049 ^@ NM_000267.3(NF1):c.586+1209_1845+35del http://identifiers.org/clinvar/217050 ^@ NM_000267.3(NF1):c.587-282_8315-3687del http://identifiers.org/clinvar/217052 ^@ NM_000267.3(NF1):c.731-302_8314+3681del http://identifiers.org/clinvar/217058 ^@ NM_000267.3(NF1):c.888+3798_5750-2053del http://identifiers.org/clinvar/217059 ^@ NM_000267.3(NF1):c.889-8381_6757-5del http://identifiers.org/clinvar/217060 ^@ NM_000267.3(NF1):c.889-1633_7395-667del http://identifiers.org/clinvar/217061 ^@ NM_000267.3(NF1):c.1260+220_7553-1095del http://identifiers.org/clinvar/217071 ^@ NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT http://identifiers.org/clinvar/217072 ^@ NM_000267.3(NF1):c.2048_5041del http://identifiers.org/clinvar/217076 ^@ NM_000267.3(NF1):c.3709-266_7259-397delinsCAG http://identifiers.org/clinvar/217077 ^@ NM_000267.3:c.3975-1046_4110+902deins333 http://identifiers.org/clinvar/217079 ^@ NM_000267.3:c.3975-364_4515-510indel810 http://identifiers.org/clinvar/217083 ^@ NM_000267.3(NF1):c.4661+1660_4773-8837del http://identifiers.org/clinvar/217084 ^@ NM_000267.3(NF1):c.4515-343_8314+3380del http://identifiers.org/clinvar/217088 ^@ NM_000267.3(NF1):c.4773-23713_7907+14del http://identifiers.org/clinvar/217090 ^@ NM_000267.3:c.5547-961+5943+244del http://identifiers.org/clinvar/217103 ^@ NM_000267.3:c.7566_8314+3321_delinsCGCCACGGC http://identifiers.org/clinvar/217115 ^@ NM_002860.3(ALDH18A1):c.2143G>C (p.Asp715His) http://identifiers.org/clinvar/217116 ^@ NM_002860.3(ALDH18A1):c.727G>C (p.Val243Leu) http://identifiers.org/clinvar/217117 ^@ NM_002860.3(ALDH18A1):c.755G>A (p.Arg252Gln) http://identifiers.org/clinvar/217118 ^@ NM_002860.3(ALDH18A1):c.359T>C (p.Val120Ala) http://identifiers.org/clinvar/217119 ^@ NM_002860.3(ALDH18A1):c.1994G>T (p.Arg665Leu) http://identifiers.org/clinvar/217120 ^@ NM_002860.3(ALDH18A1):c.1910T>C (p.Leu637Pro) http://identifiers.org/clinvar/217121 ^@ NM_002860.3(ALDH18A1):c.383G>A (p.Arg128His) http://identifiers.org/clinvar/217122 ^@ NM_002609.3(PDGFRB):c.1751C>G (p.Pro584Arg) http://identifiers.org/clinvar/217128 ^@ NM_130799.2(MEN1):c.152delA (p.Asn51Thrfs) http://identifiers.org/clinvar/217125 ^@ NM_004064.4(CDKN1B):c.-80C>T http://identifiers.org/clinvar/217126 ^@ NM_004064.4(CDKN1B):c.-29_-26delAGAG http://identifiers.org/clinvar/217127 ^@ NM_004064.4(CDKN1B):c.397C>A (p.Pro133Thr) http://identifiers.org/clinvar/217131 ^@ NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del http://identifiers.org/clinvar/217132 ^@ NM_145020.4(CFAP53):c.472A>G (p.Arg158Gly) http://identifiers.org/clinvar/217133 ^@ NM_145020.4(CFAP53):c.301_375del75 (p.Leu101_Glu125del) http://identifiers.org/clinvar/217140 ^@ NM_015441.2(OLFML2B):c.2021G>A (p.Gly674Asp) http://identifiers.org/clinvar/217141 ^@ NM_015441.2(OLFML2B):c.1606G>A (p.Gly536Ser) http://identifiers.org/clinvar/217139 ^@ NM_015441.2(OLFML2B):c.1580G>A (p.Arg527Gln) http://identifiers.org/clinvar/217138 ^@ NM_015441.2(OLFML2B):c.1544G>A (p.Gly515Glu) http://identifiers.org/clinvar/217137 ^@ NM_015441.2(OLFML2B):c.1306G>T (p.Ala436Ser) http://identifiers.org/clinvar/217136 ^@ NM_015441.2(OLFML2B):c.1058G>A (p.Arg353His) http://identifiers.org/clinvar/217135 ^@ NM_015441.2(OLFML2B):c.1039C>T (p.Arg347Trp) http://identifiers.org/clinvar/217134 ^@ NM_015441.2(OLFML2B):c.44T>G (p.Val15Gly) http://identifiers.org/clinvar/217142 ^@ GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 http://identifiers.org/clinvar/217163 ^@ NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) http://identifiers.org/clinvar/217164 ^@ NM_014874.3(MFN2):c.494A>G (p.His165Arg) http://identifiers.org/clinvar/217165 ^@ NM_014874.3(MFN2):c.707C>T (p.Thr236Met) http://identifiers.org/clinvar/217161 ^@ NM_014874.3(MFN2):c.1126A>G (p.Met376Val) http://identifiers.org/clinvar/217162 ^@ NM_014874.3(MFN2):c.2256C>A (p.Tyr752Ter) http://identifiers.org/clinvar/217234 ^@ NM_000530.7(MPZ):c.646-10_650del http://identifiers.org/clinvar/217233 ^@ NM_000530.7(MPZ):c.410G>A (p.Gly137Asp) http://identifiers.org/clinvar/217232 ^@ NM_000530.7(MPZ):c.116A>C (p.His39Pro) http://identifiers.org/clinvar/217235 ^@ NM_000530.7(MPZ):c.90C>G (p.Ile30Met) http://identifiers.org/clinvar/217248 ^@ NM_001165963.1(SCN1A):c.5436G>A (p.Trp1812Ter) http://identifiers.org/clinvar/217247 ^@ NM_001165963.1(SCN1A):c.4477-2A>G http://identifiers.org/clinvar/217246 ^@ NM_001165963.1(SCN1A):c.4266T>A (p.Tyr1422Ter) http://identifiers.org/clinvar/217245 ^@ NM_001165963.1(SCN1A):c.3852delG (p.Trp1284Cysfs) http://identifiers.org/clinvar/217244 ^@ NM_001165963.1(SCN1A):c.3657G>A (p.Trp1219Ter) http://identifiers.org/clinvar/217243 ^@ NM_001165963.1(SCN1A):c.3306C>A (p.Tyr1102Ter) http://identifiers.org/clinvar/217240 ^@ NM_001165963.1(SCN1A):c.1028+1G>T http://identifiers.org/clinvar/217249 ^@ NM_001165963.1(SCN1A):c.992dupT (p.Leu331Phefs) http://identifiers.org/clinvar/217242 ^@ NM_001165963.1(SCN1A):c.264+5G>A http://identifiers.org/clinvar/217241 ^@ NM_001165963.1(SCN1A):c.249C>A (p.Tyr83Ter) http://identifiers.org/clinvar/217222 ^@ NM_003494.3(DYSF):c.164dupA (p.Ile57Hisfs) http://identifiers.org/clinvar/217221 ^@ NM_003494.3(DYSF):c.1167_1180+1dup http://identifiers.org/clinvar/217223 ^@ NM_003494.3(DYSF):c.1834C>T (p.Gln612Ter) http://identifiers.org/clinvar/217224 ^@ NM_003494.3(DYSF):c.1852G>C (p.Gly618Arg) http://identifiers.org/clinvar/217225 ^@ NM_003494.3(DYSF):c.3112C>T (p.Arg1038Ter) http://identifiers.org/clinvar/217227 ^@ NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) http://identifiers.org/clinvar/217228 ^@ NM_014845.5(FIG4):c.1141C>T (p.Arg381Ter) http://identifiers.org/clinvar/217230 ^@ NM_001540.3(HSPB1):c.407G>T (p.Arg136Leu) http://identifiers.org/clinvar/217231 ^@ NM_001540.3(HSPB1):c.523C>T (p.Gln175Ter) http://identifiers.org/clinvar/217229 ^@ NM_018972.2(GDAP1):c.373C>T (p.Arg125Ter) http://identifiers.org/clinvar/217251 ^@ NM_000368.4(TSC1):c.2675_2676delGA (p.Arg892Lysfs) http://identifiers.org/clinvar/217144 ^@ NM_213599.2(ANO5):c.762+1G>A http://identifiers.org/clinvar/217143 ^@ NM_213599.2(ANO5):c.1210C>T (p.Arg404Ter) http://identifiers.org/clinvar/217148 ^@ NM_000070.2(CAPN3):c.133G>A (p.Ala45Thr) http://identifiers.org/clinvar/217151 ^@ NM_000070.2(CAPN3):c.146G>A (p.Arg49His) http://identifiers.org/clinvar/217156 ^@ NM_000070.2(CAPN3):c.483delG (p.Ile162Serfs) http://identifiers.org/clinvar/217157 ^@ NM_000070.2(CAPN3):c.499-1G>A http://identifiers.org/clinvar/217158 ^@ NM_000070.2(CAPN3):c.566T>C (p.Leu189Pro) http://identifiers.org/clinvar/217159 ^@ NM_000070.2(CAPN3):c.643_663del21 (p.Ser215_Gly221del) http://identifiers.org/clinvar/217160 ^@ NM_000070.2(CAPN3):c.883_886delGATAinsCTT (p.Asp295Leufs) http://identifiers.org/clinvar/217145 ^@ NM_000070.2(CAPN3):c.1117T>C (p.Trp373Arg) http://identifiers.org/clinvar/217146 ^@ NM_000070.2(CAPN3):c.1194-9A>G http://identifiers.org/clinvar/217149 ^@ NM_000070.2(CAPN3):c.1343G>A (p.Arg448His) http://identifiers.org/clinvar/217150 ^@ NM_000070.2(CAPN3):c.1465C>T (p.Arg489Trp) http://identifiers.org/clinvar/217152 ^@ NM_000070.2(CAPN3):c.1714C>T (p.Arg572Trp) http://identifiers.org/clinvar/217153 ^@ NM_000070.2(CAPN3):c.1939G>T (p.Glu647Ter) http://identifiers.org/clinvar/217154 ^@ NM_000070.2(CAPN3):c.1992+1G>T http://identifiers.org/clinvar/217155 ^@ NM_000070.2(CAPN3):c.2381-2A>G http://identifiers.org/clinvar/217252 ^@ NM_000548.4(TSC2):c.45dupT (p.Lys16Terfs) http://identifiers.org/clinvar/217238 ^@ NM_000304.3(PMP22):c.434delT (p.Leu145Argfs) http://identifiers.org/clinvar/217237 ^@ NM_000304.3(PMP22):c.327C>A (p.Cys109Ter) http://identifiers.org/clinvar/217236 ^@ NM_000304.3(PMP22):c.235T>A (p.Ser79Thr) http://identifiers.org/clinvar/217250 ^@ NM_000023.3(SGCA):c.100C>T (p.Arg34Cys) http://identifiers.org/clinvar/217239 ^@ NM_181882.2(PRX):c.2787delC (p.Lys930Serfs) http://identifiers.org/clinvar/217174 ^@ NM_004006.2(DMD):c.10504G>T (p.Glu3502Ter) http://identifiers.org/clinvar/217173 ^@ NM_004006.2(DMD):c.10412T>G (p.Leu3471Ter) http://identifiers.org/clinvar/217172 ^@ NM_004006.2(DMD):c.10223+1G>C http://identifiers.org/clinvar/217171 ^@ NM_004006.2(DMD):c.10133delA (p.Asn3378Thrfs) http://identifiers.org/clinvar/217220 ^@ NM_004006.2(DMD):c.9938_9941dupGTAA (p.Asn3314Lysfs) http://identifiers.org/clinvar/217219 ^@ NM_004006.2(DMD):c.9551dupA (p.Asn3184Lysfs) http://identifiers.org/clinvar/217217 ^@ NM_004006.2(DMD):c.9204_9207delCAAA (p.Asn3068Lysfs) http://identifiers.org/clinvar/217216 ^@ NM_004006.2(DMD):c.8970_8971delGA (p.Asn2991Argfs) http://identifiers.org/clinvar/217215 ^@ NM_004006.2(DMD):c.8390+2T>C http://identifiers.org/clinvar/217214 ^@ NM_004006.2(DMD):c.8357G>A (p.Trp2786Ter) http://identifiers.org/clinvar/217213 ^@ NM_004006.2(DMD):c.8038C>T (p.Arg2680Ter) http://identifiers.org/clinvar/217212 ^@ NM_004006.2(DMD):c.8027+2T>A http://identifiers.org/clinvar/217211 ^@ NM_004006.2(DMD):c.7817G>A (p.Trp2606Ter) http://identifiers.org/clinvar/217210 ^@ NM_004006.2(DMD):c.7755G>A (p.Trp2585Ter) http://identifiers.org/clinvar/217209 ^@ NM_004006.2(DMD):c.7105G>T (p.Glu2369Ter) http://identifiers.org/clinvar/217208 ^@ NM_004006.2(DMD):c.6611dupA (p.Arg2205Glufs) http://identifiers.org/clinvar/217207 ^@ NM_004006.2(DMD):c.6128_6131delATAG (p.Asp2043Valfs) http://identifiers.org/clinvar/217206 ^@ NM_004006.2(DMD):c.5917C>T (p.Gln1973Ter) http://identifiers.org/clinvar/217205 ^@ NM_004006.2(DMD):c.5641C>T (p.Gln1881Ter) http://identifiers.org/clinvar/217204 ^@ NM_004006.2(DMD):c.5602_5605delAGAA (p.Arg1868Glufs) http://identifiers.org/clinvar/217203 ^@ NM_004006.2(DMD):c.5461G>T (p.Glu1821Ter) http://identifiers.org/clinvar/217202 ^@ NM_004006.2(DMD):c.5350G>T (p.Glu1784Ter) http://identifiers.org/clinvar/217201 ^@ NM_004006.2(DMD):c.5131C>T (p.Gln1711Ter) http://identifiers.org/clinvar/217200 ^@ NM_004006.2(DMD):c.4918delA (p.Thr1640Glnfs) http://identifiers.org/clinvar/217199 ^@ NM_004006.2(DMD):c.4729C>T (p.Arg1577Ter) http://identifiers.org/clinvar/217198 ^@ NM_004006.2(DMD):c.4606G>T (p.Glu1536Ter) http://identifiers.org/clinvar/217197 ^@ NM_004006.2(DMD):c.4240C>T (p.Gln1414Ter) http://identifiers.org/clinvar/217194 ^@ NM_004006.2(DMD):c.3433-5_3434del http://identifiers.org/clinvar/217193 ^@ NM_004006.2(DMD):c.3427C>T (p.Gln1143Ter) http://identifiers.org/clinvar/217192 ^@ NM_004006.2(DMD):c.2991C>G (p.Tyr997Ter) http://identifiers.org/clinvar/217190 ^@ NM_004006.2(DMD):c.2804-2A>C http://identifiers.org/clinvar/217188 ^@ NM_004006.2(DMD):c.2797C>T (p.Gln933Ter) http://identifiers.org/clinvar/217186 ^@ NM_004006.2(DMD):c.2623-3C>G http://identifiers.org/clinvar/217185 ^@ NM_004006.2(DMD):c.2611A>T (p.Lys871Ter) http://identifiers.org/clinvar/217184 ^@ NM_004006.2(DMD):c.2407C>T (p.Gln803Ter) http://identifiers.org/clinvar/217183 ^@ NM_004006.2(DMD):c.2368C>T (p.Gln790Ter) http://identifiers.org/clinvar/217182 ^@ NM_004006.2(DMD):c.2215G>T (p.Glu739Ter) http://identifiers.org/clinvar/217181 ^@ NM_004006.2(DMD):c.1683G>A (p.Trp561Ter) http://identifiers.org/clinvar/217180 ^@ NM_004006.2(DMD):c.1663C>T (p.Gln555Ter) http://identifiers.org/clinvar/217179 ^@ NM_004006.2(DMD):c.1483-1G>C http://identifiers.org/clinvar/217178 ^@ NM_004006.2(DMD):c.1388G>A (p.Trp463Ter) http://identifiers.org/clinvar/217177 ^@ NM_004006.2(DMD):c.1331+1G>A http://identifiers.org/clinvar/217176 ^@ NM_004006.2(DMD):c.1324C>T (p.Gln442Ter) http://identifiers.org/clinvar/217175 ^@ NM_004006.2(DMD):c.1150-2del http://identifiers.org/clinvar/217196 ^@ NM_004006.2(DMD):c.358-2A>G http://identifiers.org/clinvar/217195 ^@ NM_004006.2(DMD):c.355C>T (p.Gln119Ter) http://identifiers.org/clinvar/217191 ^@ NM_004006.2(DMD):c.282dupT (p.Gly95Trpfs) http://identifiers.org/clinvar/217189 ^@ NM_004006.2(DMD):c.280delA (p.Ile94Leufs) http://identifiers.org/clinvar/217187 ^@ NM_004006.2(DMD):c.265-2A>G http://identifiers.org/clinvar/217218 ^@ NM_004006.2(DMD):c.94-1G>A http://identifiers.org/clinvar/217166 ^@ NM_000166.5(GJB1):c.-103C>T http://identifiers.org/clinvar/217169 ^@ NM_000166.5(GJB1):c.44G>A (p.Arg15Gln) http://identifiers.org/clinvar/217167 ^@ NM_001097642.2(GJB1):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/217168 ^@ NM_001097642.2(GJB1):c.319C>T (p.Arg107Trp) http://identifiers.org/clinvar/217170 ^@ NM_000166.5(GJB1):c.490C>T (p.Arg164Trp) http://identifiers.org/clinvar/217254 ^@ NM_001203.2(BMPR1B):c.157T>C (p.Cys53Arg) http://identifiers.org/clinvar/217255 ^@ NM_001256794.1(BMPR1B):c.657G>A (p.Trp219Ter) http://identifiers.org/clinvar/217256 ^@ NM_001203.2(BMPR1B):c.91C>T (p.Arg31Cys) http://identifiers.org/clinvar/217257 ^@ NM_006371.4(CRTAP):c.118G>T (p.Glu40Ter) http://identifiers.org/clinvar/217259 ^@ NM_002860.3(ALDH18A1):c.412C>T (p.Arg138Trp) http://identifiers.org/clinvar/217260 ^@ NM_002860.3(ALDH18A1):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/217261 ^@ NM_002860.3(ALDH18A1):c.413G>T (p.Arg138Leu) http://identifiers.org/clinvar/217263 ^@ NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) http://identifiers.org/clinvar/217265 ^@ NM_032682.5(FOXP1):c.1540C>T (p.Arg514Cys) http://identifiers.org/clinvar/217264 ^@ NM_032682.5(FOXP1):c.1393A>G (p.Arg465Gly) http://identifiers.org/clinvar/217266 ^@ NM_032682.5(FOXP1):c.1317C>G (p.Tyr439Ter) http://identifiers.org/clinvar/217272 ^@ NM_003119.3(SPG7):c.473_474delTC (p.Leu158Glnfs) http://identifiers.org/clinvar/217270 ^@ NM_003119.3(SPG7):c.988-1G>A http://identifiers.org/clinvar/217269 ^@ NM_003119.3(SPG7):c.1715C>T (p.Ala572Val) http://identifiers.org/clinvar/217271 ^@ NM_003119.3(SPG7):c.1996G>A (p.Gly666Arg) http://identifiers.org/clinvar/217268 ^@ NM_003119.3(SPG7):c.2249C>T (p.Pro750Leu) http://identifiers.org/clinvar/217273 ^@ NM_002860.3(ALDH18A1):c.2345A>G (p.Tyr782Cys) http://identifiers.org/clinvar/217274 ^@ NM_002310.5(LIFR):c.2170C>G (p.Pro724Ala) http://identifiers.org/clinvar/217277 ^@ NM_001414.3(EIF2B1):c.547G>T (p.Val183Phe) http://identifiers.org/clinvar/217278 ^@ NM_001414.3(EIF2B1):c.833C>G (p.Pro278Arg) http://identifiers.org/clinvar/217279 ^@ NM_001414.3(EIF2B1):c.328A>G (p.Lys110Glu) http://identifiers.org/clinvar/217280 ^@ NM_001414.3(EIF2B1):c.613_615delGGA (p.Gly205del) http://identifiers.org/clinvar/217281 ^@ NM_001414.3(EIF2B1):c.824A>G (p.Tyr275Cys) http://identifiers.org/clinvar/217282 ^@ NM_001414.3(EIF2B1):c.715T>G (p.Phe239Val) http://identifiers.org/clinvar/217283 ^@ NM_001283009.1(RTEL1):c.2219_2227delATGTCATCC (p.His740_Ile742del) http://identifiers.org/clinvar/217284 ^@ NM_016434.3(RTEL1):c.2413+1G>C http://identifiers.org/clinvar/217285 ^@ NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln) http://identifiers.org/clinvar/217290 ^@ NM_018012.3(KIF26B):c.5146_5167del22 (p.Thr1716Profs) http://identifiers.org/clinvar/217288 ^@ NM_003990.4(PAX2):c.57_58insGTGAACC (p.Gln22Argfs) http://identifiers.org/clinvar/217286 ^@ NM_003990.4(PAX2):c.119_120delGC (p.Arg40Hisfs) http://identifiers.org/clinvar/217287 ^@ NM_003990.4(PAX2):c.187G>A (p.Gly63Ser) http://identifiers.org/clinvar/217289 ^@ NM_003990.4(PAX2):c.223_224dupAC (p.Gly76Profs) http://identifiers.org/clinvar/217291 ^@ NM_006218.3(PIK3CA):c.311C>T (p.Pro104Leu) http://identifiers.org/clinvar/217292 ^@ NM_006218.3(PIK3CA):c.3129G>T (p.Met1043Ile) http://identifiers.org/clinvar/217293 ^@ NM_006218.3(PIK3CA):c.1635G>T (p.Glu545Asp) http://identifiers.org/clinvar/217295 ^@ NM_000264.3(PTCH1):c.3953C>T (p.Pro1318Leu) http://identifiers.org/clinvar/217296 ^@ NM_000264.3(PTCH1):c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs) http://identifiers.org/clinvar/217294 ^@ NM_000264.3(PTCH1):c.1502A>G (p.Gln501Arg) http://identifiers.org/clinvar/217297 ^@ GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1 http://identifiers.org/clinvar/217298 ^@ GRCh37/hg19 9q22.32(97579146-99280739)x1 http://identifiers.org/clinvar/217299 ^@ NM_000531.5(OTC):c.72_77+18del24 http://identifiers.org/clinvar/217305 ^@ NM_000888.4(ITGB6):c.898G>A (p.Glu300Lys) http://identifiers.org/clinvar/217304 ^@ NM_000359.2(TGM1):c.1363T>C (p.Trp455Arg) http://identifiers.org/clinvar/217303 ^@ NM_181534.3(KRT25):c.950T>C (p.Leu317Pro) http://identifiers.org/clinvar/217300 ^@ NC_000017.11:g.8017293_8022591del5299 http://identifiers.org/clinvar/217301 ^@ NM_021628.2(ALOXE3):c.418C>T (p.Arg140Ter) http://identifiers.org/clinvar/217302 ^@ NM_007348.3:c.355_356dupG http://identifiers.org/clinvar/217307 ^@ NM_144670.5(A2ML1):c.763C>T (p.Gln255Ter) http://identifiers.org/clinvar/217314 ^@ NM_144670.5(A2ML1):c.887T>C (p.Val296Ala) http://identifiers.org/clinvar/217308 ^@ NM_144670.5(A2ML1):c.1067C>G (p.Pro356Arg) http://identifiers.org/clinvar/217309 ^@ NM_144670.5(A2ML1):c.2428G>A (p.Ala810Thr) http://identifiers.org/clinvar/217306 ^@ NM_144670.5(A2ML1):c.2478_2485dupGGCTAAAT (p.Ser829Trpfs) http://identifiers.org/clinvar/217310 ^@ NM_144670.5(A2ML1):c.2677C>T (p.Arg893Ter) http://identifiers.org/clinvar/217311 ^@ NM_144670.5(A2ML1):c.2914G>T (p.Glu972Ter) http://identifiers.org/clinvar/217312 ^@ NM_144670.5(A2ML1):c.3001C>T (p.Arg1001Trp) http://identifiers.org/clinvar/217313 ^@ NM_144670.5(A2ML1):c.4292C>T (p.Ala1431Val) http://identifiers.org/clinvar/217315 ^@ NG_016976.1:g.(77205_77207)_(112216_112218)dup http://identifiers.org/clinvar/217316 ^@ NM_014362.3(HIBCH):c.1128dupT (p.Lys377Terfs) http://identifiers.org/clinvar/217319 ^@ NM_004815.3(ARHGAP29):c.976A>T (p.Lys326Ter) http://identifiers.org/clinvar/217320 ^@ NM_020964.2(EPG5):c.7447C>T (p.Arg2483Ter) http://identifiers.org/clinvar/217331 ^@ NM_005267.4(GJA8):c.89dupT (p.Ile31Hisfs) http://identifiers.org/clinvar/217324 ^@ NM_005267.4(GJA8):c.119C>T (p.Ala40Val) http://identifiers.org/clinvar/217335 ^@ NM_005267.4(GJA8):c.134G>C (p.Trp45Ser) http://identifiers.org/clinvar/217355 ^@ NM_005267.4(GJA8):c.151G>A (p.Asp51Asn) http://identifiers.org/clinvar/217323 ^@ NM_005267.4(GJA8):c.658A>G (p.Asn220Asp) http://identifiers.org/clinvar/217349 ^@ NM_004431.4(EPHA2):c.1978T>G (p.Phe660Val) http://identifiers.org/clinvar/217340 ^@ NM_012293.2(PXDN):c.3190G>A (p.Ala1064Thr) http://identifiers.org/clinvar/217353 ^@ NM_006891.3(CRYGD):c.448dupG (p.Asp150Glyfs) http://identifiers.org/clinvar/217337 ^@ NM_020989.3(CRYGC):c.328_329delCCinsT (p.Pro110Serfs) http://identifiers.org/clinvar/217338 ^@ NM_003380.3(VIM):c.15delC (p.Val6Cysfs) http://identifiers.org/clinvar/217336 ^@ NM_213606.3(SLC16A12):c.610C>T (p.Arg204Trp) http://identifiers.org/clinvar/217346 ^@ NM_001885.2(CRYAB):c.320G>T (p.Arg107Leu) http://identifiers.org/clinvar/217328 ^@ NM_001604.5(PAX6):c.1119delC (p.Thr374Profs) http://identifiers.org/clinvar/217333 ^@ NM_001604.5(PAX6):c.239T>A (p.Ile80Asn) http://identifiers.org/clinvar/217345 ^@ NM_012064.3(MIP):c.597_598insGGGAACATTCCACT (p.Asn200Glyfs) http://identifiers.org/clinvar/217342 ^@ NM_012064.3(MIP):c.97C>T (p.Arg33Cys) http://identifiers.org/clinvar/217334 ^@ NM_021954.3(GJA3):c.260C>T (p.Thr87Met) http://identifiers.org/clinvar/217339 ^@ NM_021954.3(GJA3):c.176C>T (p.Pro59Leu) http://identifiers.org/clinvar/217343 ^@ NM_021954.3(GJA3):c.7G>C (p.Asp3His) http://identifiers.org/clinvar/217341 ^@ NM_001031804.2(MAF):c.915C>T (p.Cys305=) http://identifiers.org/clinvar/217344 ^@ NM_001031804.2(MAF):c.880C>T (p.Arg294Trp) http://identifiers.org/clinvar/217325 ^@ NM_001031804.2(MAF):c.819G>C (p.Glu273Asp) http://identifiers.org/clinvar/242476 ^@ NM_001195.4(BFSP1):c.1492delT (p.Ser498Leufs) http://identifiers.org/clinvar/242475 ^@ NM_001195.4(BFSP1):c.812T>C (p.Ile271Thr) http://identifiers.org/clinvar/217332 ^@ NM_000394.3(CRYAA):c.142T>G (p.Tyr48Asp) http://identifiers.org/clinvar/217351 ^@ NM_004076.4(CRYBB3):c.634T>C (p.Ter212Arg) http://identifiers.org/clinvar/242474 ^@ NM_000496.2(CRYBB2):c.343C>A (p.Pro115Thr) http://identifiers.org/clinvar/242473 ^@ NM_000496.2(CRYBB2):c.355G>A (p.Gly119Arg) http://identifiers.org/clinvar/217330 ^@ NM_000496.2(CRYBB2):c.556T>C (p.Ser186Pro) http://identifiers.org/clinvar/217350 ^@ NM_000496.2(CRYBB2):c.583T>G (p.Trp195Gly) http://identifiers.org/clinvar/217329 ^@ NM_001887.3(CRYBB1):c.368G>A (p.Arg123His) http://identifiers.org/clinvar/217347 ^@ NM_001886.2(CRYBA4):c.40-1G>C http://identifiers.org/clinvar/217326 ^@ NM_198270.3(NHS):c.2707delG (p.Glu903Asnfs) http://identifiers.org/clinvar/217352 ^@ NM_198270.3(NHS):c.3624C>A (p.Cys1208Ter) http://identifiers.org/clinvar/217327 ^@ NM_001123383.1(BCOR):c.4288_4291delGAGA (p.Glu1430Profs) http://identifiers.org/clinvar/217354 ^@ NM_001123383.1(BCOR):c.1136_1139delTTAG (p.Val379Alafs) http://identifiers.org/clinvar/242472 ^@ NM_006894.5(FMO3):c.560T>C (p.Val187Ala) http://identifiers.org/clinvar/217414 ^@ NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) http://identifiers.org/clinvar/217413 ^@ NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) http://identifiers.org/clinvar/217412 ^@ NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) http://identifiers.org/clinvar/217411 ^@ NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) http://identifiers.org/clinvar/217410 ^@ NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) http://identifiers.org/clinvar/217409 ^@ NM_000169.2(GLA):c.989A>G (p.Gln330Arg) http://identifiers.org/clinvar/217408 ^@ NM_000169.2(GLA):c.980A>T (p.Gln327Leu) http://identifiers.org/clinvar/217407 ^@ NM_000169.2(GLA):c.980A>G (p.Gln327Arg) http://identifiers.org/clinvar/217406 ^@ NM_000169.2(GLA):c.968C>G (p.Pro323Arg) http://identifiers.org/clinvar/217405 ^@ NM_000169.2(GLA):c.950T>G (p.Ile317Ser) http://identifiers.org/clinvar/217404 ^@ NM_000169.2(GLA):c.947T>C (p.Val316Ala) http://identifiers.org/clinvar/217403 ^@ NM_000169.2(GLA):c.943G>A (p.Asp315Asn) http://identifiers.org/clinvar/217402 ^@ NM_000169.2(GLA):c.937G>A (p.Asp313Asn) http://identifiers.org/clinvar/217401 ^@ NM_000169.2(GLA):c.926C>T (p.Ala309Val) http://identifiers.org/clinvar/217400 ^@ NM_000169.2(GLA):c.865A>G (p.Ile289Val) http://identifiers.org/clinvar/217399 ^@ NM_000169.2(GLA):c.806T>G (p.Val269Gly) http://identifiers.org/clinvar/217398 ^@ NM_000169.2(GLA):c.784T>C (p.Trp262Arg) http://identifiers.org/clinvar/217397 ^@ NM_000169.2(GLA):c.761T>C (p.Val254Ala) http://identifiers.org/clinvar/217396 ^@ NM_000169.2(GLA):c.724A>G (p.Ile242Val) http://identifiers.org/clinvar/217395 ^@ NM_000169.2(GLA):c.683A>G (p.Asn228Ser) http://identifiers.org/clinvar/217394 ^@ NM_000169.2(GLA):c.680G>C (p.Arg227Pro) http://identifiers.org/clinvar/217393 ^@ NM_000169.2(GLA):c.657C>G (p.Ile219Met) http://identifiers.org/clinvar/217392 ^@ NM_000169.2(GLA):c.641C>T (p.Pro214Leu) http://identifiers.org/clinvar/217391 ^@ NM_000169.2(GLA):c.638A>G (p.Lys213Arg) http://identifiers.org/clinvar/217390 ^@ NM_000169.2(GLA):c.610T>C (p.Trp204Arg) http://identifiers.org/clinvar/217389 ^@ NM_000169.2(GLA):c.588A>C (p.Arg196Ser) http://identifiers.org/clinvar/217388 ^@ NM_000169.2(GLA):c.561G>A (p.Met187Ile) http://identifiers.org/clinvar/217387 ^@ NM_000169.2(GLA):c.540G>T (p.Leu180Phe) http://identifiers.org/clinvar/217386 ^@ NM_000169.2(GLA):c.490G>T (p.Val164Leu) http://identifiers.org/clinvar/217385 ^@ NM_000169.2(GLA):c.461T>C (p.Ile154Thr) http://identifiers.org/clinvar/217384 ^@ NM_000169.2(GLA):c.361G>A (p.Ala121Thr) http://identifiers.org/clinvar/217383 ^@ NM_000169.2(GLA):c.337T>A (p.Phe113Ile) http://identifiers.org/clinvar/217382 ^@ NM_000169.2(GLA):c.272T>A (p.Ile91Asn) http://identifiers.org/clinvar/217381 ^@ NM_000169.2(GLA):c.256T>C (p.Tyr86His) http://identifiers.org/clinvar/217380 ^@ NM_000169.2(GLA):c.239G>A (p.Gly80Asp) http://identifiers.org/clinvar/217379 ^@ NM_000169.2(GLA):c.212A>G (p.Glu71Gly) http://identifiers.org/clinvar/217378 ^@ NM_000169.2(GLA):c.190A>T (p.Ile64Phe) http://identifiers.org/clinvar/217377 ^@ NM_000169.2(GLA):c.107T>G (p.Leu36Trp) http://identifiers.org/clinvar/217376 ^@ NM_000169.2(GLA):c.104G>A (p.Gly35Glu) http://identifiers.org/clinvar/217375 ^@ NM_000169.2(GLA):c.98A>G (p.Asp33Gly) http://identifiers.org/clinvar/217374 ^@ NM_000169.2(GLA):c.62T>C (p.Leu21Pro) http://identifiers.org/clinvar/217373 ^@ NM_000169.2(GLA):c.59C>A (p.Ala20Asp) http://identifiers.org/clinvar/217372 ^@ NM_000169.2(GLA):c.7C>G (p.Leu3Val) http://identifiers.org/clinvar/217418 ^@ NM_020041.2(SLC2A9):c.224T>G (p.Leu75Arg) http://identifiers.org/clinvar/217419 ^@ NM_001001290.1(SLC2A9):c.595_727del133 http://identifiers.org/clinvar/217420 ^@ NM_020041.2(SLC2A9):c.511C>T (p.Arg171Cys) http://identifiers.org/clinvar/217421 ^@ NM_020041.2(SLC2A9):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/217422 ^@ SLC2A9, EX8-12DEL http://identifiers.org/clinvar/217424 ^@ NM_000287.3(PEX6):c.821C>T (p.Pro274Leu) http://identifiers.org/clinvar/217425 ^@ NM_000287.3(PEX6):c.1930C>T (p.Arg644Trp) http://identifiers.org/clinvar/217426 ^@ NM_000287.3(PEX6):c.1841delT (p.Leu614Argfs) http://identifiers.org/clinvar/217428 ^@ NM_000466.2(PEX1):c.2114T>G (p.Leu705Trp) http://identifiers.org/clinvar/217429 ^@ NM_000466.2(PEX1):c.1742G>C (p.Arg581Pro) http://identifiers.org/clinvar/217430 ^@ NM_000466.2(PEX1):c.1239+1G>T http://identifiers.org/clinvar/217431 ^@ NM_000466.2(PEX1):c.3750G>A (p.Trp1250Ter) http://identifiers.org/clinvar/217436 ^@ NM_176824.2(BBS7):c.949C>G (p.Leu317Val) http://identifiers.org/clinvar/217437 ^@ NM_198428.2(BBS9):c.102_112+2delAAATGGACAAGGT http://identifiers.org/clinvar/217432 ^@ NM_024649.4(BBS1):c.48-3C>G http://identifiers.org/clinvar/217433 ^@ NM_024649.4(BBS1):c.1012C>T (p.Gln338Ter) http://identifiers.org/clinvar/217438 ^@ NM_024685.3(BBS10):c.1856_1865delAAAAATGCCA (p.Lys619Ilefs) http://identifiers.org/clinvar/217440 ^@ NM_024685.3(BBS10):c.1547delC (p.Thr516Asnfs) http://identifiers.org/clinvar/217439 ^@ NM_024685.3(BBS10):c.1024dupA (p.Ile342Asnfs) http://identifiers.org/clinvar/217435 ^@ NM_033028.4(BBS4):c.406-2A>G http://identifiers.org/clinvar/217434 ^@ NM_031885.3(BBS2):c.263delG (p.Gly88Alafs) http://identifiers.org/clinvar/217441 ^@ NM_004655.3(AXIN2):c.314T>G (p.Val105Gly) http://identifiers.org/clinvar/217443 ^@ NM_005183.3(CACNA1F):c.2542G>A (p.Gly848Ser) http://identifiers.org/clinvar/217444 ^@ NG_009095.2:g.(16929_16947)_(21383_21401)del http://identifiers.org/clinvar/217445 ^@ NM_005060.3(RORC):c.113C>T (p.Ser38Leu) http://identifiers.org/clinvar/217446 ^@ NM_001001523.1(RORC):c.922C>T (p.Gln308Ter) http://identifiers.org/clinvar/217447 ^@ NM_001001523.1(RORC):c.1258C>T (p.Gln420Ter) http://identifiers.org/clinvar/217448 ^@ NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/217449 ^@ NM_002180.2(IGHMBP2):c.983_987delAAGAA (p.Lys328Thrfs) http://identifiers.org/clinvar/217450 ^@ NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) http://identifiers.org/clinvar/217451 ^@ NM_005572.3(LMNA):c.899A>G (p.Asp300Gly) http://identifiers.org/clinvar/217453 ^@ NM_006244.3(PPP2R5B):c.482C>T (p.Ser161Leu) http://identifiers.org/clinvar/217454 ^@ NM_001161725.1(PPP2R5C):c.468_470delAAC (p.Thr157del) http://identifiers.org/clinvar/217455 ^@ NM_006245.3(PPP2R5D):c.157C>T (p.Pro53Ser) http://identifiers.org/clinvar/217456 ^@ NM_006245.3(PPP2R5D):c.598G>A (p.Glu200Lys) http://identifiers.org/clinvar/217457 ^@ NM_006245.3(PPP2R5D):c.619T>A (p.Trp207Arg) http://identifiers.org/clinvar/217458 ^@ NM_014225.5(PPP2R1A):c.773G>A (p.Arg258His) http://identifiers.org/clinvar/217459 ^@ NM_012079.5(DGAT1):c.884T>C (p.Leu295Pro) http://identifiers.org/clinvar/217495 ^@ NM_000364.3(TNNT2):c.833A>T (p.Asn278Ile) http://identifiers.org/clinvar/217496 ^@ NM_000364.3(TNNT2):c.653T>C (p.Ile218Thr) http://identifiers.org/clinvar/217488 ^@ NM_001103.3(ACTN2):c.1226A>G (p.Lys409Arg) http://identifiers.org/clinvar/217494 ^@ NM_024334.2(TMEM43):c.1021C>T (p.Arg341Ter) http://identifiers.org/clinvar/217492 ^@ NM_001160161.1(SCN5A):c.3505G>C (p.Ala1169Pro) http://identifiers.org/clinvar/217493 ^@ NM_033071.3(SYNE1):c.12149_12150delAGinsGT (p.Lys4050Ser) http://identifiers.org/clinvar/217489 ^@ NM_001458.4(FLNC):c.3689A>G (p.Tyr1230Cys) http://identifiers.org/clinvar/217497 ^@ NM_014000.2(VCL):c.1531G>T (p.Asp511Tyr) http://identifiers.org/clinvar/217479 ^@ NM_000256.3(MYBPC3):c.3662delT (p.Leu1221Argfs) http://identifiers.org/clinvar/217486 ^@ NM_000256.3(MYBPC3):c.3414dupC (p.Val1139Argfs) http://identifiers.org/clinvar/217485 ^@ NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) http://identifiers.org/clinvar/217476 ^@ NM_000256.3(MYBPC3):c.2670dupG (p.Arg891Alafs) http://identifiers.org/clinvar/217477 ^@ NM_000256.3(MYBPC3):c.2550delC (p.Asn850Lysfs) http://identifiers.org/clinvar/217484 ^@ NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) http://identifiers.org/clinvar/217478 ^@ NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) http://identifiers.org/clinvar/217475 ^@ NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser) http://identifiers.org/clinvar/217481 ^@ NM_000256.3(MYBPC3):c.306delC (p.Met103Cysfs) http://identifiers.org/clinvar/217483 ^@ NM_000256.3(MYBPC3):c.227dupA (p.Ser78Ilefs) http://identifiers.org/clinvar/217490 ^@ NM_000432.3(MYL2):c.125G>A (p.Gly42Asp) http://identifiers.org/clinvar/217468 ^@ NM_000257.3(MYH7):c.5422G>A (p.Gly1808Ser) http://identifiers.org/clinvar/217461 ^@ NM_000257.3(MYH7):c.4992C>A (p.Asn1664Lys) http://identifiers.org/clinvar/217469 ^@ NM_000257.3(MYH7):c.4571A>G (p.His1524Arg) http://identifiers.org/clinvar/217463 ^@ NM_000257.3(MYH7):c.3645G>C (p.Gln1215His) http://identifiers.org/clinvar/217465 ^@ NM_000257.3(MYH7):c.3358G>A (p.Glu1120Lys) http://identifiers.org/clinvar/217467 ^@ NM_000257.3(MYH7):c.2893G>A (p.Glu965Lys) http://identifiers.org/clinvar/217462 ^@ NM_000257.3(MYH7):c.2655T>A (p.Asn885Lys) http://identifiers.org/clinvar/217466 ^@ NM_000257.3(MYH7):c.2542_2544delGAG (p.Glu848del) http://identifiers.org/clinvar/217474 ^@ NM_000257.3(MYH7):c.2524A>G (p.Ser842Gly) http://identifiers.org/clinvar/217473 ^@ NM_000257.3(MYH7):c.2291T>A (p.Phe764Tyr) http://identifiers.org/clinvar/217464 ^@ NM_000257.3(MYH7):c.2201A>C (p.Gln734Pro) http://identifiers.org/clinvar/217460 ^@ NM_000257.3(MYH7):c.2156G>C (p.Arg719Pro) http://identifiers.org/clinvar/217470 ^@ NM_000257.3(MYH7):c.2104A>G (p.Ile702Val) http://identifiers.org/clinvar/217471 ^@ NM_000257.3(MYH7):c.1479G>C (p.Met493Ile) http://identifiers.org/clinvar/217472 ^@ NM_000257.3(MYH7):c.755T>G (p.Phe252Cys) http://identifiers.org/clinvar/217487 ^@ NM_005159.4(ACTC1):c.281A>G (p.Asn94Ser) http://identifiers.org/clinvar/217491 ^@ NM_033118.3(MYLK2):c.281C>G (p.Pro94Arg) http://identifiers.org/clinvar/217498 ^@ NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs) http://identifiers.org/clinvar/217499 ^@ NM_005767.5(LPAR6):c.188A>T (p.Asp63Val) http://identifiers.org/clinvar/217506 ^@ NM_002109.5(HARS):c.395C>T (p.Thr132Ile) http://identifiers.org/clinvar/217507 ^@ NM_002109.5(HARS):c.401C>A (p.Pro134His) http://identifiers.org/clinvar/217508 ^@ NM_002109.5(HARS):c.525T>G (p.Asp175Glu) http://identifiers.org/clinvar/217509 ^@ NM_002109.5(HARS):c.1090G>T (p.Asp364Tyr) http://identifiers.org/clinvar/242471 ^@ NC_000002.12:g.51071313_51109710del38398 http://identifiers.org/clinvar/242470 ^@ NC_000002.12:g.51360327_51400639del40313 http://identifiers.org/clinvar/217513 ^@ NM_000925.3(PDHB):c.300_303+7delTATGGTATGTA http://identifiers.org/clinvar/217514 ^@ NM_006005.3(WFS1):c.2390_2391insACG (p.Asp797delinsGluArg) http://identifiers.org/clinvar/217512 ^@ NM_000692.4(ALDH1B1):c.578delG (p.Gly193Valfs) http://identifiers.org/clinvar/217515 ^@ NM_170589.4(KNL1):c.5262dupT (p.Ile1755Tyrfs) http://identifiers.org/clinvar/217516 ^@ NM_002538.3(OCLN):c.252delC (p.Ser85Profs) http://identifiers.org/clinvar/217517 ^@ NM_032957.4(RTEL1):c.1030+2dupT http://identifiers.org/clinvar/217518 ^@ NM_016434.3(RTEL1):c.1482-1G>A http://identifiers.org/clinvar/217519 ^@ NM_016434.3(RTEL1):c.1546G>C (p.Val516Leu) http://identifiers.org/clinvar/217520 ^@ NM_016434.3(RTEL1):c.1618T>G (p.Ser540Ala) http://identifiers.org/clinvar/217521 ^@ NM_001615.3(ACTG2):c.113G>A (p.Arg38His) http://identifiers.org/clinvar/217551 ^@ NM_182896.2(ARL13B):c.65T>G (p.Val22Gly) http://identifiers.org/clinvar/217552 ^@ NM_182896.2(ARL13B):c.461A>G (p.Asn154Ser) http://identifiers.org/clinvar/217611 ^@ NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) http://identifiers.org/clinvar/217613 ^@ NM_001080522.2(CC2D2A):c.1503_1505delAGA (p.Lys501_Asp502delinsAsn) http://identifiers.org/clinvar/217618 ^@ NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) http://identifiers.org/clinvar/217610 ^@ NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro) http://identifiers.org/clinvar/217605 ^@ NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter) http://identifiers.org/clinvar/217615 ^@ NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys) http://identifiers.org/clinvar/217604 ^@ NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) http://identifiers.org/clinvar/217602 ^@ NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) http://identifiers.org/clinvar/217601 ^@ NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala) http://identifiers.org/clinvar/217595 ^@ NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) http://identifiers.org/clinvar/217598 ^@ NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala) http://identifiers.org/clinvar/217620 ^@ NM_001080522.2(CC2D2A):c.3594+5G>A http://identifiers.org/clinvar/217608 ^@ NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) http://identifiers.org/clinvar/217599 ^@ NM_001080522.2(CC2D2A):c.3743_3746dupTGGT (p.Pro1250Glyfs) http://identifiers.org/clinvar/217600 ^@ NM_001080522.2(CC2D2A):c.3772-1G>T http://identifiers.org/clinvar/217597 ^@ NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) http://identifiers.org/clinvar/217596 ^@ NM_001080522.2(CC2D2A):c.3891_3892delTG (p.Val1298Phefs) http://identifiers.org/clinvar/217617 ^@ NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA http://identifiers.org/clinvar/217619 ^@ NM_001080522.2(CC2D2A):c.3976-3C>A http://identifiers.org/clinvar/217612 ^@ NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln) http://identifiers.org/clinvar/217609 ^@ NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr) http://identifiers.org/clinvar/217594 ^@ NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala) http://identifiers.org/clinvar/217616 ^@ NM_001080522.2(CC2D2A):c.4491A>C (p.Gln1497His) http://identifiers.org/clinvar/217614 ^@ NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) http://identifiers.org/clinvar/217607 ^@ NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) http://identifiers.org/clinvar/217603 ^@ NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala) http://identifiers.org/clinvar/217606 ^@ NM_001080522.2(CC2D2A):c.4843_4846delTCTC (p.Ser1615Leufs) http://identifiers.org/clinvar/217569 ^@ NM_023073.3(C5orf42):c.9058C>T (p.Arg3020Ter) http://identifiers.org/clinvar/217588 ^@ NM_023073.3(C5orf42):c.8855+1G>T http://identifiers.org/clinvar/217564 ^@ NM_023073.3(C5orf42):c.8855+1G>A http://identifiers.org/clinvar/217561 ^@ NM_023073.3(C5orf42):c.8725delG (p.Ala2909Glnfs) http://identifiers.org/clinvar/217563 ^@ NM_023073.3(C5orf42):c.8716G>T (p.Glu2906Ter) http://identifiers.org/clinvar/217571 ^@ NM_023073.3(C5orf42):c.8710C>T (p.Arg2904Ter) http://identifiers.org/clinvar/217567 ^@ NM_023073.3(C5orf42):c.8608G>T (p.Glu2870Ter) http://identifiers.org/clinvar/217565 ^@ NM_023073.3(C5orf42):c.8263_8264insG (p.Thr2755Serfs) http://identifiers.org/clinvar/217570 ^@ NM_023073.3(C5orf42):c.8263dupA (p.Thr2755Asnfs) http://identifiers.org/clinvar/217562 ^@ NM_023073.3(C5orf42):c.8167C>T (p.Gln2723Ter) http://identifiers.org/clinvar/217566 ^@ NM_023073.3(C5orf42):c.7978C>T (p.Arg2660Ter) http://identifiers.org/clinvar/217575 ^@ NM_023073.3(C5orf42):c.7817T>A (p.Leu2606Ter) http://identifiers.org/clinvar/217574 ^@ NM_023073.3(C5orf42):c.7778G>A (p.Trp2593Ter) http://identifiers.org/clinvar/217568 ^@ NM_023073.3(C5orf42):c.7190delC (p.Pro2397Glnfs) http://identifiers.org/clinvar/217579 ^@ NM_023073.3(C5orf42):c.6269_6270delTG (p.Val2090Alafs) http://identifiers.org/clinvar/217572 ^@ NM_023073.3(C5orf42):c.3636_3637delAT (p.Leu1213Alafs) http://identifiers.org/clinvar/217591 ^@ NM_023073.3(C5orf42):c.3599C>T (p.Ala1200Val) http://identifiers.org/clinvar/217577 ^@ NM_023073.3(C5orf42):c.3130_3131insA (p.Arg1044Glnfs) http://identifiers.org/clinvar/217581 ^@ NM_023073.3(C5orf42):c.3007G>T (p.Glu1003Ter) http://identifiers.org/clinvar/217582 ^@ NM_023073.3(C5orf42):c.2999G>T (p.Trp1000Leu) http://identifiers.org/clinvar/217587 ^@ NM_023073.3(C5orf42):c.2923C>T (p.Gln975Ter) http://identifiers.org/clinvar/217586 ^@ NM_023073.3(C5orf42):c.2831G>A (p.Arg944His) http://identifiers.org/clinvar/217585 ^@ NM_023073.3(C5orf42):c.2709G>A (p.Trp903Ter) http://identifiers.org/clinvar/217589 ^@ NM_023073.3(C5orf42):c.2611C>T (p.Arg871Cys) http://identifiers.org/clinvar/217583 ^@ NM_023073.3(C5orf42):c.2377C>T (p.Gln793Ter) http://identifiers.org/clinvar/217584 ^@ NM_023073.3(C5orf42):c.2353C>T (p.Arg785Ter) http://identifiers.org/clinvar/217573 ^@ NM_023073.3(C5orf42):c.2275C>T (p.Gln759Ter) http://identifiers.org/clinvar/217590 ^@ NM_023073.3(C5orf42):c.1819delT (p.Tyr607Thrfs) http://identifiers.org/clinvar/217580 ^@ NM_023073.3(C5orf42):c.1784T>G (p.Leu595Ter) http://identifiers.org/clinvar/217593 ^@ NM_023073.3(C5orf42):c.817A>C (p.Asn273His) http://identifiers.org/clinvar/217578 ^@ NM_023073.3(C5orf42):c.510delT (p.Leu171Serfs) http://identifiers.org/clinvar/217576 ^@ NM_023073.3(C5orf42):c.510dupT (p.Leu171Serfs) http://identifiers.org/clinvar/217592 ^@ NM_023073.3(C5orf42):c.424G>A (p.Glu142Lys) http://identifiers.org/clinvar/217549 ^@ NM_001134831.1(AHI1):c.2705T>A (p.Val902Asp) http://identifiers.org/clinvar/217532 ^@ NM_001134831.1(AHI1):c.2687A>G (p.His896Arg) http://identifiers.org/clinvar/217524 ^@ NM_001134831.1(AHI1):c.2495T>G (p.Leu832Ter) http://identifiers.org/clinvar/217547 ^@ NM_001134831.1(AHI1):c.2361G>T (p.Trp787Cys) http://identifiers.org/clinvar/217539 ^@ NM_001134831.1(AHI1):c.2297G>A (p.Gly766Glu) http://identifiers.org/clinvar/217525 ^@ NM_001134831.1(AHI1):c.2212C>T (p.Arg738Ter) http://identifiers.org/clinvar/217540 ^@ NM_001134831.1(AHI1):c.2187_2196delGAGAGAAGAT (p.Met729Ilefs) http://identifiers.org/clinvar/217545 ^@ NM_001134831.1(AHI1):c.2173T>C (p.Trp725Arg) http://identifiers.org/clinvar/217537 ^@ NM_001134831.1(AHI1):c.2172delA (p.Trp725Glyfs) http://identifiers.org/clinvar/217530 ^@ NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly) http://identifiers.org/clinvar/217533 ^@ NM_001134831.1(AHI1):c.2098_2099dupGT (p.Tyr701Phefs) http://identifiers.org/clinvar/217522 ^@ NM_001134831.1(AHI1):c.2036+1G>T http://identifiers.org/clinvar/217546 ^@ NM_001134831.1(AHI1):c.2023G>A (p.Asp675Asn) http://identifiers.org/clinvar/217528 ^@ NM_001134831.1(AHI1):c.2012C>T (p.Thr671Ile) http://identifiers.org/clinvar/217548 ^@ NM_001134831.1(AHI1):c.1997A>T (p.Asp666Val) http://identifiers.org/clinvar/217544 ^@ NM_001134831.1(AHI1):c.1976A>T (p.Asp659Val) http://identifiers.org/clinvar/217531 ^@ NM_001134831.1(AHI1):c.1917T>A (p.Tyr639Ter) http://identifiers.org/clinvar/217526 ^@ NM_001134831.1(AHI1):c.1897_1898dupGG (p.Tyr634Aspfs) http://identifiers.org/clinvar/217550 ^@ NM_001134831.1(AHI1):c.1626+4_1626+5insTTAC http://identifiers.org/clinvar/217535 ^@ NM_001134831.1(AHI1):c.1626+1G>A http://identifiers.org/clinvar/217541 ^@ NM_001134831.1(AHI1):c.1614delA (p.Val539Phefs) http://identifiers.org/clinvar/217534 ^@ NM_001134831.1(AHI1):c.1516C>T (p.Arg506Ter) http://identifiers.org/clinvar/217523 ^@ NM_001134831.1(AHI1):c.1267C>T (p.Gln423Ter) http://identifiers.org/clinvar/217543 ^@ NM_001134831.1(AHI1):c.1260G>A (p.Trp420Ter) http://identifiers.org/clinvar/217527 ^@ NM_001134831.1(AHI1):c.1152-2A>G http://identifiers.org/clinvar/217529 ^@ NM_001134831.1(AHI1):c.1115A>G (p.Asp372Gly) http://identifiers.org/clinvar/217536 ^@ NM_001134831.1(AHI1):c.910dupA (p.Thr304Asnfs) http://identifiers.org/clinvar/217542 ^@ NM_001134831.1(AHI1):c.736A>T (p.Lys246Ter) http://identifiers.org/clinvar/217538 ^@ NM_001134831.1(AHI1):c.662C>G (p.Ser221Ter) http://identifiers.org/clinvar/217644 ^@ NM_024790.6(CSPP1):c.457delA (p.Arg153Glyfs) http://identifiers.org/clinvar/217649 ^@ NM_024790.6(CSPP1):c.950+1G>C http://identifiers.org/clinvar/217646 ^@ NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) http://identifiers.org/clinvar/217647 ^@ NM_024790.6(CSPP1):c.1682+1G>T http://identifiers.org/clinvar/217648 ^@ NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter) http://identifiers.org/clinvar/217650 ^@ NM_024790.6(CSPP1):c.2433_2436delAGAA (p.Lys814Argfs) http://identifiers.org/clinvar/217651 ^@ NM_024790.6(CSPP1):c.2448_2454delAGAAGAA (p.Glu817Lysfs) http://identifiers.org/clinvar/217643 ^@ NM_024790.6(CSPP1):c.2448_2454dupAGAAGAA (p.Glu819Argfs) http://identifiers.org/clinvar/217642 ^@ NM_024790.6(CSPP1):c.2708delA (p.Asn903Metfs) http://identifiers.org/clinvar/217645 ^@ NM_024790.6(CSPP1):c.3205+1G>A http://identifiers.org/clinvar/217715 ^@ NM_153704.5(TMEM67):c.244C>T (p.Pro82Ser) http://identifiers.org/clinvar/217714 ^@ NM_153704.5(TMEM67):c.245C>G (p.Pro82Arg) http://identifiers.org/clinvar/217712 ^@ NM_153704.5(TMEM67):c.300C>A (p.Cys100Ter) http://identifiers.org/clinvar/217709 ^@ NM_153704.5(TMEM67):c.389C>G (p.Pro130Arg) http://identifiers.org/clinvar/217721 ^@ NM_153704.5(TMEM67):c.515G>A (p.Arg172Gln) http://identifiers.org/clinvar/217716 ^@ NM_153704.5(TMEM67):c.730A>G (p.Thr244Ala) http://identifiers.org/clinvar/217710 ^@ NM_153704.5(TMEM67):c.769A>G (p.Met257Val) http://identifiers.org/clinvar/217711 ^@ NM_153704.5(TMEM67):c.978+3A>G http://identifiers.org/clinvar/217720 ^@ NM_153704.5(TMEM67):c.1073C>T (p.Pro358Leu) http://identifiers.org/clinvar/217728 ^@ NM_153704.5(TMEM67):c.1081G>T (p.Glu361Ter) http://identifiers.org/clinvar/217726 ^@ NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) http://identifiers.org/clinvar/217719 ^@ NM_153704.5(TMEM67):c.1126C>G (p.Gln376Glu) http://identifiers.org/clinvar/217725 ^@ NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) http://identifiers.org/clinvar/217724 ^@ NM_153704.5(TMEM67):c.1351C>T (p.Arg451Ter) http://identifiers.org/clinvar/217713 ^@ NM_153704.5(TMEM67):c.1453C>T (p.Pro485Ser) http://identifiers.org/clinvar/217707 ^@ NM_153704.5(TMEM67):c.1674+3A>G http://identifiers.org/clinvar/217708 ^@ NM_153704.5(TMEM67):c.1911C>A (p.Phe637Leu) http://identifiers.org/clinvar/217729 ^@ NM_153704.5(TMEM67):c.2086C>T (p.Leu696Phe) http://identifiers.org/clinvar/217717 ^@ NM_153704.5(TMEM67):c.2290C>T (p.Arg764Ter) http://identifiers.org/clinvar/217731 ^@ NM_153704.5(TMEM67):c.2322+5delG http://identifiers.org/clinvar/217718 ^@ NM_153704.5(TMEM67):c.2368C>A (p.His790Asn) http://identifiers.org/clinvar/217723 ^@ NM_153704.5(TMEM67):c.2522A>C (p.Gln841Pro) http://identifiers.org/clinvar/217730 ^@ NM_153704.5(TMEM67):c.2661+5G>A http://identifiers.org/clinvar/217727 ^@ NM_153704.5(TMEM67):c.2801G>A (p.Gly934Glu) http://identifiers.org/clinvar/217722 ^@ NM_153704.5(TMEM67):c.2825T>G (p.Phe942Cys) http://identifiers.org/clinvar/217658 ^@ NM_019892.5(INPP5E):c.1897_1898delCA (p.Gln633Glufs) http://identifiers.org/clinvar/217656 ^@ NM_019892.5(INPP5E):c.1760delT (p.Val587Glyfs) http://identifiers.org/clinvar/217657 ^@ NM_019892.5(INPP5E):c.1754G>A (p.Arg585His) http://identifiers.org/clinvar/217654 ^@ NM_019892.5(INPP5E):c.1684A>G (p.Ser562Gly) http://identifiers.org/clinvar/217660 ^@ NM_019892.5(INPP5E):c.1577C>T (p.Pro526Leu) http://identifiers.org/clinvar/217665 ^@ NM_019892.5(INPP5E):c.1468G>T (p.Asp490Tyr) http://identifiers.org/clinvar/217664 ^@ NM_019892.5(INPP5E):c.1249T>C (p.Ser417Pro) http://identifiers.org/clinvar/217663 ^@ NM_019892.5(INPP5E):c.1162G>T (p.Val388Leu) http://identifiers.org/clinvar/217659 ^@ NM_019892.5(INPP5E):c.1154G>A (p.Cys385Tyr) http://identifiers.org/clinvar/217655 ^@ NM_019892.5(INPP5E):c.1064C>T (p.Thr355Met) http://identifiers.org/clinvar/217661 ^@ NM_019892.5(INPP5E):c.1021G>A (p.Gly341Ser) http://identifiers.org/clinvar/217662 ^@ NM_019892.5(INPP5E):c.944C>T (p.Pro315Leu) http://identifiers.org/clinvar/217653 ^@ NM_019892.5(INPP5E):c.907G>A (p.Val303Met) http://identifiers.org/clinvar/217703 ^@ NM_015631.5(TCTN3):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/217706 ^@ NM_001173990.2(TMEM216):c.216T>C (p.Ile72=) http://identifiers.org/clinvar/217705 ^@ NM_001173990.2(TMEM216):c.217C>T (p.Arg73Cys) http://identifiers.org/clinvar/217704 ^@ NM_001173990.2(TMEM216):c.398T>G (p.Leu133Ter) http://identifiers.org/clinvar/217560 ^@ NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) http://identifiers.org/clinvar/217559 ^@ NM_001286577.1(C2CD3):c.4951+1G>T http://identifiers.org/clinvar/217701 ^@ NM_024809.4(TCTN2):c.71delG (p.Asp26Thrfs) http://identifiers.org/clinvar/217700 ^@ NM_024809.4(TCTN2):c.76dupG (p.Asp26Glyfs) http://identifiers.org/clinvar/217702 ^@ NM_024809.4(TCTN2):c.613G>T (p.Gly205Cys) http://identifiers.org/clinvar/217696 ^@ NM_024809.4(TCTN2):c.1117G>A (p.Gly373Arg) http://identifiers.org/clinvar/217699 ^@ NM_024809.4(TCTN2):c.1291G>T (p.Glu431Ter) http://identifiers.org/clinvar/217697 ^@ NM_024809.4(TCTN2):c.1626delT (p.Asp543Ilefs) http://identifiers.org/clinvar/217698 ^@ NM_024809.4(TCTN2):c.1751T>A (p.Ile584Lys) http://identifiers.org/clinvar/217633 ^@ NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter) http://identifiers.org/clinvar/217621 ^@ NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) http://identifiers.org/clinvar/217640 ^@ NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter) http://identifiers.org/clinvar/217637 ^@ NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter) http://identifiers.org/clinvar/217636 ^@ NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) http://identifiers.org/clinvar/217632 ^@ NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) http://identifiers.org/clinvar/217635 ^@ NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) http://identifiers.org/clinvar/217639 ^@ NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter) http://identifiers.org/clinvar/217628 ^@ NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) http://identifiers.org/clinvar/217626 ^@ NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) http://identifiers.org/clinvar/217625 ^@ NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs) http://identifiers.org/clinvar/217638 ^@ NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs) http://identifiers.org/clinvar/217629 ^@ NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs) http://identifiers.org/clinvar/217641 ^@ NM_025114.3(CEP290):c.2343T>C (p.Asn781=) http://identifiers.org/clinvar/217627 ^@ NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) http://identifiers.org/clinvar/217622 ^@ NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) http://identifiers.org/clinvar/217623 ^@ NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) http://identifiers.org/clinvar/217631 ^@ NM_025114.3(CEP290):c.1623+1G>A http://identifiers.org/clinvar/217630 ^@ NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) http://identifiers.org/clinvar/217624 ^@ NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs) http://identifiers.org/clinvar/217634 ^@ NM_025114.3(CEP290):c.103-1G>T http://identifiers.org/clinvar/217689 ^@ NM_006346.2(PIBF1):c.1214G>A (p.Arg405Gln) http://identifiers.org/clinvar/217688 ^@ NM_006346.2(PIBF1):c.1669delC (p.Leu557Phefs) http://identifiers.org/clinvar/217669 ^@ NM_001244189.1(KIAA0586):c.802C>T (p.Gln268Ter) http://identifiers.org/clinvar/217666 ^@ NM_001244189.1(KIAA0586):c.1430_1433delAGCTinsGA (p.Glu477Glyfs) http://identifiers.org/clinvar/217668 ^@ NM_001244189.1(KIAA0586):c.1730_1734delTATCT (p.Leu577Tyrfs) http://identifiers.org/clinvar/217667 ^@ NM_001244189.1(KIAA0586):c.3303G>A (p.Pro1101=) http://identifiers.org/clinvar/217670 ^@ NM_198525.2(KIF7):c.3331C>T (p.Arg1111Ter) http://identifiers.org/clinvar/217671 ^@ NM_198525.2(KIF7):c.2917C>T (p.Arg973Ter) http://identifiers.org/clinvar/217695 ^@ NM_015272.4(RPGRIP1L):c.3701+1G>T http://identifiers.org/clinvar/217694 ^@ NM_015272.4(RPGRIP1L):c.3529C>T (p.Arg1177Ter) http://identifiers.org/clinvar/217690 ^@ NM_015272.4(RPGRIP1L):c.2305-1G>A http://identifiers.org/clinvar/217691 ^@ NM_015272.4(RPGRIP1L):c.1721delA (p.Tyr574Leufs) http://identifiers.org/clinvar/217693 ^@ NM_015272.4(RPGRIP1L):c.1243+1G>A http://identifiers.org/clinvar/217692 ^@ NM_015272.4(RPGRIP1L):c.1132delT (p.Trp378Glyfs) http://identifiers.org/clinvar/217554 ^@ NM_015681.4(B9D1):c.466C>T (p.Arg156Trp) http://identifiers.org/clinvar/217553 ^@ NM_015681.4(B9D1):c.285C>A (p.Phe95Leu) http://identifiers.org/clinvar/217555 ^@ NM_015681.4(B9D1):c.95A>G (p.Tyr32Cys) http://identifiers.org/clinvar/217678 ^@ NM_017777.3(MKS1):c.1589-2A>T http://identifiers.org/clinvar/217673 ^@ NM_017777.3(MKS1):c.1528dupC (p.Arg510Profs) http://identifiers.org/clinvar/217683 ^@ NM_017777.3(MKS1):c.1389G>T (p.Arg463=) http://identifiers.org/clinvar/217681 ^@ NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) http://identifiers.org/clinvar/217672 ^@ NM_017777.3(MKS1):c.1208C>T (p.Ser403Leu) http://identifiers.org/clinvar/217677 ^@ NM_017777.3(MKS1):c.1115_1117delCCT (p.Ser372del) http://identifiers.org/clinvar/217679 ^@ NM_017777.3(MKS1):c.950G>A (p.Gly317Glu) http://identifiers.org/clinvar/217680 ^@ NM_001165927.1(MKS1):c.737_738insC (p.Glu246Aspfs) http://identifiers.org/clinvar/217682 ^@ NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) http://identifiers.org/clinvar/217676 ^@ NM_017777.3(MKS1):c.381delC (p.Tyr128Thrfs) http://identifiers.org/clinvar/217674 ^@ NM_017777.3(MKS1):c.262-179_262-37del http://identifiers.org/clinvar/217675 ^@ NM_017777.3(MKS1):c.55G>T (p.Asp19Tyr) http://identifiers.org/clinvar/217556 ^@ NM_030578.3(B9D2):c.463G>A (p.Gly155Ser) http://identifiers.org/clinvar/217558 ^@ NM_030578.3(B9D2):c.220C>T (p.Pro74Ser) http://identifiers.org/clinvar/217557 ^@ NM_030578.3(B9D2):c.107T>C (p.Leu36Pro) http://identifiers.org/clinvar/217687 ^@ NM_003611.2(OFD1):c.149A>G (p.His50Arg) http://identifiers.org/clinvar/217685 ^@ NM_003611.2(OFD1):c.277G>T (p.Val93Phe) http://identifiers.org/clinvar/217686 ^@ NM_003611.2(OFD1):c.2668C>T (p.Arg890Ter) http://identifiers.org/clinvar/217684 ^@ 2q13 deletion http://identifiers.org/clinvar/127099 ^@ NM_006302.2(MOGS):c.329G>A (p.Arg110His) http://identifiers.org/clinvar/217735 ^@ NM_006302.2(MOGS):c.329G>A (p.Arg110His) http://identifiers.org/clinvar/242469 ^@ NM_014049.4(ACAD9):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/242468 ^@ NM_014049.4(ACAD9):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/242467 ^@ NM_014049.4(ACAD9):c.151-2A>G http://identifiers.org/clinvar/242466 ^@ NM_014049.4(ACAD9):c.796C>T (p.Arg266Trp) http://identifiers.org/clinvar/242465 ^@ NM_014049.4(ACAD9):c.1015T>G (p.Phe339Val) http://identifiers.org/clinvar/242464 ^@ NM_014049.4(ACAD9):c.1030-1G>T http://identifiers.org/clinvar/242463 ^@ NM_014049.4(ACAD9):c.1237G>A (p.Glu413Lys) http://identifiers.org/clinvar/242462 ^@ NM_014049.4(ACAD9):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/242461 ^@ NM_014049.4(ACAD9):c.1552C>T (p.Arg518Cys) http://identifiers.org/clinvar/242460 ^@ NM_014049.4(ACAD9):c.1564-6_1569del http://identifiers.org/clinvar/242459 ^@ NM_014049.4(ACAD9):c.1595G>A (p.Arg532Gln) http://identifiers.org/clinvar/217745 ^@ NM_001863.4(COX6B1):c.58C>T (p.Arg20Cys) http://identifiers.org/clinvar/217746 ^@ NM_002004.3(FDPS):c.536G>A (p.Arg179Gln) http://identifiers.org/clinvar/217747 ^@ NM_001135822.1(FDPS):c.283-1776_649-143del http://identifiers.org/clinvar/217748 ^@ NM_001135822.1(FDPS):c.486+1G>A http://identifiers.org/clinvar/217749 ^@ NM_000431.3(MVK):c.1039+1G>A http://identifiers.org/clinvar/217750 ^@ NM_000431.2(MVK):c.-1880_527+533del http://identifiers.org/clinvar/217751 ^@ NM_005199.4(CHRNG):c.428C>G (p.Pro143Arg) http://identifiers.org/clinvar/217753 ^@ NM_005219.4(DIAPH1):c.2769delT (p.Phe923Leufs) http://identifiers.org/clinvar/217754 ^@ NM_005219.4(DIAPH1):c.3145C>T (p.Arg1049Ter) http://identifiers.org/clinvar/217757 ^@ NG_008645.1:g.386_387(11_15) http://identifiers.org/clinvar/217759 ^@ NM_000787.3(DBH):c.-979T>C http://identifiers.org/clinvar/217758 ^@ NM_000787.3(DBH):c.486A>G (p.Glu162=) http://identifiers.org/clinvar/217762 ^@ NM_000787.3(DBH):c.617delA (p.Glu206Glyfs) http://identifiers.org/clinvar/217763 ^@ NM_000787.3(DBH):c.806G>T (p.Cys269Phe) http://identifiers.org/clinvar/217765 ^@ NM_000787.3(DBH):c.1085C>A (p.Ala362Glu) http://identifiers.org/clinvar/217766 ^@ NM_000787.3(DBH):c.1667A>G (p.Tyr556Cys) http://identifiers.org/clinvar/217796 ^@ NM_004366.5(CLCN2):c.2386C>T (p.Gln796Ter) http://identifiers.org/clinvar/217782 ^@ NM_004366.5(CLCN2):c.2279C>T (p.Ala760Val) http://identifiers.org/clinvar/217781 ^@ NM_004366.5(CLCN2):c.2273G>A (p.Ser758Asn) http://identifiers.org/clinvar/217780 ^@ NM_004366.5(CLCN2):c.2240G>A (p.Arg747His) http://identifiers.org/clinvar/217779 ^@ NM_004366.5(CLCN2):c.2173C>T (p.Arg725Trp) http://identifiers.org/clinvar/217778 ^@ NM_004366.5(CLCN2):c.2154G>C (p.Glu718Asp) http://identifiers.org/clinvar/217776 ^@ NM_004366.5(CLCN2):c.2003C>G (p.Thr668Ser) http://identifiers.org/clinvar/217795 ^@ NM_004366.5(CLCN2):c.1957A>T (p.Arg653Ter) http://identifiers.org/clinvar/217775 ^@ NM_004366.5(CLCN2):c.1937G>A (p.Arg646Gln) http://identifiers.org/clinvar/217774 ^@ NM_004366.5(CLCN2):c.1930C>T (p.Arg644Cys) http://identifiers.org/clinvar/217773 ^@ NM_004366.5(CLCN2):c.1856-3C>T http://identifiers.org/clinvar/217794 ^@ NM_004366.5(CLCN2):c.1795G>A (p.Asp599Asn) http://identifiers.org/clinvar/217793 ^@ NM_004366.5(CLCN2):c.1507G>A (p.Gly503Arg) http://identifiers.org/clinvar/217792 ^@ NM_004366.5(CLCN2):c.1422_1423delTG (p.Glu475Lysfs) http://identifiers.org/clinvar/217791 ^@ NM_004366.5(CLCN2):c.1412G>A (p.Arg471His) http://identifiers.org/clinvar/217790 ^@ NM_004366.5(CLCN2):c.1397G>A (p.Gly466Glu) http://identifiers.org/clinvar/217789 ^@ NM_004366.5(CLCN2):c.1304delT (p.Leu435Argfs) http://identifiers.org/clinvar/217788 ^@ NM_004366.5(CLCN2):c.1143delT (p.Gly382Alafs) http://identifiers.org/clinvar/217787 ^@ NM_004366.5(CLCN2):c.1113delCinsACTGCTCAT (p.Ser375Cysfs) http://identifiers.org/clinvar/217786 ^@ NM_004366.5(CLCN2):c.1015G>C (p.Val339Leu) http://identifiers.org/clinvar/217785 ^@ NM_004366.5(CLCN2):c.925C>T (p.Arg309Ter) http://identifiers.org/clinvar/217783 ^@ NM_004366.5(CLCN2):c.64-1107_639del (p.Met22LeufsTer5) http://identifiers.org/clinvar/217772 ^@ NM_004366.5(CLCN2):c.596G>C (p.Gly199Ala) http://identifiers.org/clinvar/217784 ^@ NM_004366.5(CLCN2):c.292G>C (p.Gly98Arg) http://identifiers.org/clinvar/217771 ^@ NM_004366.5(CLCN2):c.246C>G (p.Phe82Leu) http://identifiers.org/clinvar/217770 ^@ NM_004366.5(CLCN2):c.218G>A (p.Arg73His) http://identifiers.org/clinvar/217769 ^@ NM_004366.5(CLCN2):c.203G>A (p.Arg68His) http://identifiers.org/clinvar/217768 ^@ NM_004366.5(CLCN2):c.143C>G (p.Pro48Arg) http://identifiers.org/clinvar/217767 ^@ NM_004366.5(CLCN2):c.130G>A (p.Gly44Arg) http://identifiers.org/clinvar/217777 ^@ NM_004366.5(CLCN2):c.2063G>A (p.Arg688Gln) http://identifiers.org/clinvar/217797 ^@ NM_001256182.1(ANKRD11):c.6210_6211delGT (p.Lys2070Asnfs) http://identifiers.org/clinvar/217798 ^@ NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) http://identifiers.org/clinvar/217799 ^@ NM_005445.3(SMC3):c.139T>C (p.Phe47Leu) http://identifiers.org/clinvar/217800 ^@ NM_005445.3(SMC3):c.703_705delACT (p.Thr235del) http://identifiers.org/clinvar/217802 ^@ NM_005445.3(SMC3):c.1462G>A (p.Glu488Lys) http://identifiers.org/clinvar/217804 ^@ NM_005445.3(SMC3):c.1997G>C (p.Gly666Ala) http://identifiers.org/clinvar/217806 ^@ NC_000015.10:g.(27926498_27952109)_(28031884_28073963)del http://identifiers.org/clinvar/217816 ^@ QOgranite falls allele http://identifiers.org/clinvar/217820 ^@ F variant http://identifiers.org/clinvar/217822 ^@ NM_004985.4(KRAS):c.57G>C (p.Leu19Phe) http://identifiers.org/clinvar/217823 ^@ NM_004958.3(MTOR):c.5395G>A (p.Glu1799Lys) http://identifiers.org/clinvar/217824 ^@ NM_001080432.2(FTO):c.46-43098T>C http://identifiers.org/clinvar/217834 ^@ NM_170707.3(LMNA):c.80C>G (p.Thr27Ser) http://identifiers.org/clinvar/217833 ^@ NM_001103.3(ACTN2):c.1369C>T (p.Arg457Cys) http://identifiers.org/clinvar/217838 ^@ NM_198056.2(SCN5A):c.4772G>A (p.Trp1591Ter) http://identifiers.org/clinvar/217831 ^@ NM_004415.3(DSP):c.7186T>A (p.Tyr2396Asn) http://identifiers.org/clinvar/217828 ^@ NM_001080116.1(LDB3):c.290A>G (p.Gln97Arg) http://identifiers.org/clinvar/217825 ^@ NM_003476.4(CSRP3):c.93C>G (p.His31Gln) http://identifiers.org/clinvar/217829 ^@ NM_000256.3(MYBPC3):c.3728C>G (p.Pro1243Arg) http://identifiers.org/clinvar/217836 ^@ NM_000256.3(MYBPC3):c.3712_3713delCT (p.Leu1238Glyfs) http://identifiers.org/clinvar/217837 ^@ NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) http://identifiers.org/clinvar/217835 ^@ NM_000256.3(MYBPC3):c.1359delT (p.Val454Cysfs) http://identifiers.org/clinvar/217827 ^@ NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) http://identifiers.org/clinvar/217839 ^@ NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) http://identifiers.org/clinvar/217830 ^@ NM_002471.3(MYH6):c.4241C>T (p.Ser1414Phe) http://identifiers.org/clinvar/217832 ^@ NM_002471.3(MYH6):c.3192dupC (p.Gln1065Profs) http://identifiers.org/clinvar/217826 ^@ NM_000257.3(MYH7):c.5452C>T (p.Arg1818Trp) http://identifiers.org/clinvar/217840 ^@ NM_015560.2(OPA1):c.728T>A (p.Leu243Ter) http://identifiers.org/clinvar/217841 ^@ NM_015560.2(OPA1):c.1067_1068dupTT (p.Ala357Leufs) http://identifiers.org/clinvar/217842 ^@ NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp) http://identifiers.org/clinvar/217843 ^@ NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg) http://identifiers.org/clinvar/217845 ^@ NM_001287174.1(ABCC8):c.4459_4460delAG (p.Arg1487Alafs) http://identifiers.org/clinvar/217844 ^@ NM_001287174.1(ABCC8):c.2698-2A>T http://identifiers.org/clinvar/217848 ^@ NM_001287174.1(ABCC8):c.1732_1746dupGCCTCCCTCTCCCTC (p.Leu582_Phe583insAlaSerLeuSerLeu) http://identifiers.org/clinvar/217846 ^@ NM_001287174.1(ABCC8):c.683G>A (p.Gly228Asp) http://identifiers.org/clinvar/217847 ^@ NM_001287174.1(ABCC8):c.72C>A (p.Asn24Lys) http://identifiers.org/clinvar/217858 ^@ NM_004304.4(ALK):c.3833A>C (p.Tyr1278Ser) http://identifiers.org/clinvar/217857 ^@ NM_004304.4(ALK):c.3735C>A (p.Phe1245Leu) http://identifiers.org/clinvar/217856 ^@ NM_004304.4(ALK):c.3734T>G (p.Phe1245Cys) http://identifiers.org/clinvar/217855 ^@ NM_004304.4(ALK):c.3733T>A (p.Phe1245Ile) http://identifiers.org/clinvar/217854 ^@ NM_004304.4(ALK):c.3718T>G (p.Leu1240Val) http://identifiers.org/clinvar/217853 ^@ NM_004304.4(ALK):c.3685G>A (p.Val1229Met) http://identifiers.org/clinvar/217852 ^@ NM_004304.4(ALK):c.3522C>G (p.Phe1174Leu) http://identifiers.org/clinvar/217851 ^@ NM_004304.4(ALK):c.3522C>A (p.Phe1174Leu) http://identifiers.org/clinvar/217849 ^@ NM_004304.4(ALK):c.3520T>C (p.Phe1174Leu) http://identifiers.org/clinvar/217850 ^@ NM_004304.4(ALK):c.3520T>A (p.Phe1174Ile) http://identifiers.org/clinvar/217861 ^@ NM_002047.3(GARS):c.95T>C (p.Leu32Pro) http://identifiers.org/clinvar/217860 ^@ NM_006400.4(DCTN2):c.337C>T (p.His113Tyr) http://identifiers.org/clinvar/217862 ^@ NM_000204.4(CFI):c.1234G>A (p.Val412Met) http://identifiers.org/clinvar/217863 ^@ NM_031935.2(HMCN1):c.4163delC (p.Pro1388Hisfs) http://identifiers.org/clinvar/217864 ^@ NM_001164730.1(REEP1):c.324+1_324+7delGTAATATinsAC http://identifiers.org/clinvar/217865 ^@ NM_020226.3(PRDM8):c.781T>C (p.Phe261Leu) http://identifiers.org/clinvar/217866 ^@ NM_000096.3(CP):c.2991T>G (p.His997Gln) http://identifiers.org/clinvar/217868 ^@ NC_000019.10:g.45478610G>C http://identifiers.org/clinvar/217869 ^@ NM_004048.2(B2M):c.67+1G>T http://identifiers.org/clinvar/217870 ^@ NM_003737.3(DCHS1):c.7538G>A (p.Arg2513His) http://identifiers.org/clinvar/217871 ^@ NM_003737.3(DCHS1):c.6988C>T (p.Arg2330Cys) http://identifiers.org/clinvar/217872 ^@ NM_005689.2(ABCB6):c.574C>T (p.Arg192Trp) http://identifiers.org/clinvar/217873 ^@ NM_006147.3(IRF6):c.1210G>A (p.Glu404Lys) http://identifiers.org/clinvar/242458 ^@ NM_020247.4(COQ8A):c.1042C>T (p.Arg348Ter) http://identifiers.org/clinvar/242457 ^@ NM_020919.3(ALS2):c.4261C>T (p.Arg1421Ter) http://identifiers.org/clinvar/242456 ^@ NM_020919.3(ALS2):c.1911C>A (p.Tyr637Ter) http://identifiers.org/clinvar/217886 ^@ NM_001039550.1(DNAJB2):c.352+1G>A http://identifiers.org/clinvar/217888 ^@ NM_017415.2(KLHL3):c.1519G>A (p.Val507Ile) http://identifiers.org/clinvar/217878 ^@ NM_000806.5(GABRA1):c.902G>A (p.Arg301Lys) http://identifiers.org/clinvar/242455 ^@ NM_018849.2(ABCB4):c.1210C>G (p.Pro404Ala) http://identifiers.org/clinvar/242454 ^@ NM_018849.2(ABCB4):c.431G>A (p.Arg144Gln) http://identifiers.org/clinvar/242453 ^@ NM_018941.3(CLN8):c.208C>T (p.Arg70Cys) http://identifiers.org/clinvar/217877 ^@ NM_007126.3(VCP):c.271A>T (p.Asn91Tyr) http://identifiers.org/clinvar/242452 ^@ NM_000277.1(PAH):c.353-507G>T http://identifiers.org/clinvar/217880 ^@ NM_014191.3(SCN8A):c.2675T>G (p.Val892Gly) http://identifiers.org/clinvar/217884 ^@ NM_001079668.2(NKX2-1):c.524C>A (p.Ser175Ter) http://identifiers.org/clinvar/217889 ^@ NM_005159.4(ACTC1):c.894C>G (p.Asn298Lys) http://identifiers.org/clinvar/217881 ^@ NM_001256182.1(ANKRD11):c.7180C>T (p.Gln2394Ter) http://identifiers.org/clinvar/217882 ^@ NM_000435.2(NOTCH3):c.1187C>G (p.Ser396Cys) http://identifiers.org/clinvar/217875 ^@ NM_003159.2(CDKL5):c.353A>G (p.Gln118Arg) http://identifiers.org/clinvar/217874 ^@ NM_001323289.1(CDKL5):c.2716C>T (p.Gln906Ter) http://identifiers.org/clinvar/217890 ^@ NC_000019.10:g.40854367_40886249del31883 http://identifiers.org/clinvar/217896 ^@ NM_000532.4(PCCB):c.183+5G>A http://identifiers.org/clinvar/217892 ^@ NM_000532.4(PCCB):c.372+2T>C http://identifiers.org/clinvar/217894 ^@ NM_000532.4(PCCB):c.493C>T (p.Arg165Trp) http://identifiers.org/clinvar/217891 ^@ NM_000532.4(PCCB):c.1210G>A (p.Glu404Lys) http://identifiers.org/clinvar/217895 ^@ NM_000532.4(PCCB):c.1498+2T>C http://identifiers.org/clinvar/217893 ^@ NM_000532.4(PCCB):c.1540C>T (p.Arg514Ter) http://identifiers.org/clinvar/217904 ^@ NM_001134771.1(SLC12A5):c.1277T>C (p.Leu426Pro) http://identifiers.org/clinvar/217905 ^@ NM_001134771.1(SLC12A5):c.1652G>A (p.Gly551Asp) http://identifiers.org/clinvar/217906 ^@ NM_001134771.1(SLC12A5):c.932T>A (p.Leu311His) http://identifiers.org/clinvar/217913 ^@ NM_006245.3(PPP2R5D):c.589G>A (p.Glu197Lys) http://identifiers.org/clinvar/217912 ^@ NM_006245.3(PPP2R5D):c.1258G>A (p.Glu420Lys) http://identifiers.org/clinvar/217909 ^@ NM_001164144.2(CHAMP1):c.542_543delCT (p.Ser181Cysfs) http://identifiers.org/clinvar/217908 ^@ NM_001164144.2(CHAMP1):c.1044delG (p.Trp348Terfs) http://identifiers.org/clinvar/217907 ^@ NM_001164144.2(CHAMP1):c.1544G>A (p.Trp515Ter) http://identifiers.org/clinvar/217910 ^@ NM_001164144.2(CHAMP1):c.1945C>T (p.Gln649Ter) http://identifiers.org/clinvar/217915 ^@ NM_032436.3(CHAMP1):c.2029G>T (p.Glu677Ter) http://identifiers.org/clinvar/217916 ^@ NM_032436.3(CHAMP1):c.1969C>T (p.Gln657Ter) http://identifiers.org/clinvar/217917 ^@ NM_024675.3(PALB2):c.3073G>A (p.Ala1025Thr) http://identifiers.org/clinvar/218047 ^@ NM_000251.2(MSH2):c.793-?_1276+?dup http://identifiers.org/clinvar/218033 ^@ NM_000251.2(MSH2):c.1277-?_1386+?dup http://identifiers.org/clinvar/218050 ^@ NM_000251.2(MSH2):c.95C>G (p.Thr32Ser) http://identifiers.org/clinvar/218049 ^@ NM_000251.2(MSH2):c.793-23G>A http://identifiers.org/clinvar/218048 ^@ NM_000251.2(MSH2):c.793-1G>A http://identifiers.org/clinvar/218028 ^@ NM_000251.2(MSH2):c.1090delG (p.Glu364Lysfs) http://identifiers.org/clinvar/218029 ^@ NM_000251.2(MSH2):c.1177A>T (p.Lys393Ter) http://identifiers.org/clinvar/218030 ^@ NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) http://identifiers.org/clinvar/218031 ^@ NM_000251.2(MSH2):c.1251_1268del18insAGTT (p.Ile418Valfs) http://identifiers.org/clinvar/218032 ^@ NM_000251.2(MSH2):c.1276+2T>C http://identifiers.org/clinvar/218034 ^@ NM_000251.2(MSH2):c.1302delA (p.Val435Phefs) http://identifiers.org/clinvar/218035 ^@ NM_000251.2(MSH2):c.1386+104C>T http://identifiers.org/clinvar/218036 ^@ NM_000251.2(MSH2):c.1394dupA (p.Asn465Lysfs) http://identifiers.org/clinvar/218037 ^@ NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) http://identifiers.org/clinvar/218038 ^@ NM_000251.2(MSH2):c.1538_1539delTG (p.Leu513Argfs) http://identifiers.org/clinvar/218039 ^@ NM_000251.2(MSH2):c.1661+73A>G http://identifiers.org/clinvar/218040 ^@ NM_000251.2(MSH2):c.1862G>T (p.Arg621Leu) http://identifiers.org/clinvar/218041 ^@ NM_000251.2(MSH2):c.2005+2dupT http://identifiers.org/clinvar/218042 ^@ NM_000251.2(MSH2):c.2236dupA (p.Ile746Asnfs) http://identifiers.org/clinvar/218043 ^@ NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Terfs) http://identifiers.org/clinvar/218044 ^@ NM_000251.2(MSH2):c.2297delT (p.Ile766Asnfs) http://identifiers.org/clinvar/218045 ^@ NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) http://identifiers.org/clinvar/218046 ^@ NM_000251.2(MSH2):c.2494G>T (p.Glu832Ter) http://identifiers.org/clinvar/218055 ^@ NM_000179.2(MSH6):c.261-1G>C http://identifiers.org/clinvar/218080 ^@ NM_000179.2(MSH6):c.900dupG (p.Lys301Glufs) http://identifiers.org/clinvar/218051 ^@ NM_000179.2(MSH6):c.1168_1170delGATinsAA (p.Asp390Asnfs) http://identifiers.org/clinvar/218052 ^@ NM_000179.2(MSH6):c.1312dupA (p.Met438Asnfs) http://identifiers.org/clinvar/218053 ^@ NM_000179.2(MSH6):c.1490_1491delGA (p.Arg497Lysfs) http://identifiers.org/clinvar/218054 ^@ NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) http://identifiers.org/clinvar/218056 ^@ NM_000179.2(MSH6):c.2805_2806delTG (p.Asp936Leufs) http://identifiers.org/clinvar/218057 ^@ NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) http://identifiers.org/clinvar/218059 ^@ NM_000179.2(MSH6):c.3173-97T>C http://identifiers.org/clinvar/218058 ^@ NM_000179.2(MSH6):c.3173-94A>G http://identifiers.org/clinvar/218060 ^@ NM_000179.2(MSH6):c.3238_3239delCT (p.Leu1080Valfs) http://identifiers.org/clinvar/218061 ^@ NM_000179.2(MSH6):c.3332_3335dupATGA (p.Asp1112Glufs) http://identifiers.org/clinvar/218062 ^@ NM_000179.2(MSH6):c.3528_3532delACTTG (p.Leu1177Cysfs) http://identifiers.org/clinvar/218064 ^@ NM_000179.2(MSH6):c.3626_3627delTG (p.Leu1209Argfs) http://identifiers.org/clinvar/218065 ^@ NM_000179.2(MSH6):c.3647-15A>C http://identifiers.org/clinvar/218066 ^@ NM_000179.2(MSH6):c.3647-15A>G http://identifiers.org/clinvar/218069 ^@ NM_000179.2(MSH6):c.3699_3702dupAGAA (p.Leu1235Argfs) http://identifiers.org/clinvar/218070 ^@ NM_000179.2(MSH6):c.3744_3773del30 (p.His1248_Ser1257del) http://identifiers.org/clinvar/218071 ^@ NM_000179.2(MSH6):c.3759_3760insT (p.Glu1254Terfs) http://identifiers.org/clinvar/218072 ^@ NM_000179.2(MSH6):c.3851_3852insATTA (p.Phe1285Leufs) http://identifiers.org/clinvar/218073 ^@ NM_000179.2(MSH6):c.3854dupT (p.Leu1286Profs) http://identifiers.org/clinvar/218074 ^@ NM_000179.2(MSH6):c.3863_3866dupAATT (p.Phe1289Leufs) http://identifiers.org/clinvar/218075 ^@ NM_000179.2(MSH6):c.3939_3940insTCAAAAGGGACATAGAAAA (p.Gln1314Serfs) http://identifiers.org/clinvar/218076 ^@ NM_000179.2(MSH6):c.3999dupT (p.Arg1334Serfs) http://identifiers.org/clinvar/218077 ^@ NM_000179.2(MSH6):c.4001+49_4001+50insCTAACTGACCTTAAGTTTCAA http://identifiers.org/clinvar/218078 ^@ NM_000179.2(MSH6):c.4002-25T>C http://identifiers.org/clinvar/218079 ^@ NM_000179.2(MSH6):c.4028C>G (p.Ser1343Ter) http://identifiers.org/clinvar/218024 ^@ NM_000249.3(MLH1):c.307-?_380+?del http://identifiers.org/clinvar/218026 ^@ NM_000249.3(MLH1):c.589-?_677+?del http://identifiers.org/clinvar/218011 ^@ NM_000249.3(MLH1):c.116+5G>A http://identifiers.org/clinvar/218021 ^@ NM_000249.3(MLH1):c.194G>T (p.Gly65Val) http://identifiers.org/clinvar/218023 ^@ NM_000249.3(MLH1):c.293G>A (p.Gly98Asp) http://identifiers.org/clinvar/218025 ^@ NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) http://identifiers.org/clinvar/218027 ^@ NM_000249.3(MLH1):c.793delC (p.Arg265Valfs) http://identifiers.org/clinvar/218012 ^@ NM_000249.3(MLH1):c.1258delT (p.Ser420Leufs) http://identifiers.org/clinvar/218013 ^@ NM_000249.3(MLH1):c.1558+22C>T http://identifiers.org/clinvar/218015 ^@ NM_000249.3(MLH1):c.1668-185T>C http://identifiers.org/clinvar/218014 ^@ NM_000249.3(MLH1):c.1668-139dupT http://identifiers.org/clinvar/218016 ^@ NM_000249.3(MLH1):c.1688_1689delTA (p.Ile563Thrfs) http://identifiers.org/clinvar/218017 ^@ NM_000249.3(MLH1):c.1719delT (p.Leu574Serfs) http://identifiers.org/clinvar/218018 ^@ NM_000249.3(MLH1):c.1790_1791delGGinsATCTGGACC (p.Trp597Tyrfs) http://identifiers.org/clinvar/218019 ^@ NM_000249.3(MLH1):c.1834_1847delGTTGAGTTTCTGAAinsT (p.Val612Terfs) http://identifiers.org/clinvar/218020 ^@ NM_000249.3(MLH1):c.1860dupG (p.Met621Aspfs) http://identifiers.org/clinvar/218022 ^@ NM_000249.3(MLH1):c.2059delC (p.Arg687Glyfs) http://identifiers.org/clinvar/217980 ^@ NM_000038.5(APC):c.423-?_531+?del http://identifiers.org/clinvar/217926 ^@ NM_000038.5(APC):c.1409-?_1743+?del http://identifiers.org/clinvar/217936 ^@ NM_000038.5(APC):c.1744-?_1958+?del http://identifiers.org/clinvar/218010 ^@ NM_000038.5(APC):c.95A>G (p.Asn32Ser) http://identifiers.org/clinvar/217938 ^@ NM_000038.5(APC):c.193C>A (p.Gln65Lys) http://identifiers.org/clinvar/217943 ^@ NM_000038.5(APC):c.207delA (p.Glu70Serfs) http://identifiers.org/clinvar/217946 ^@ NM_000038.5(APC):c.220+28A>G http://identifiers.org/clinvar/217945 ^@ NM_000038.5(APC):c.220+124C>G http://identifiers.org/clinvar/217948 ^@ NM_000038.5(APC):c.221-29G>C http://identifiers.org/clinvar/217947 ^@ NM_000038.5(APC):c.221-1G>A http://identifiers.org/clinvar/217950 ^@ NM_000038.5(APC):c.244T>A (p.Phe82Ile) http://identifiers.org/clinvar/217952 ^@ NM_000038.5(APC):c.268A>G (p.Lys90Glu) http://identifiers.org/clinvar/217957 ^@ NM_000038.5(APC):c.288T>G (p.Tyr96Ter) http://identifiers.org/clinvar/217958 ^@ NM_000038.5(APC):c.301G>T (p.Gly101Ter) http://identifiers.org/clinvar/217979 ^@ NM_000038.5(APC):c.422+75T>C http://identifiers.org/clinvar/217981 ^@ NM_000038.5(APC):c.423-17T>A http://identifiers.org/clinvar/217982 ^@ NM_000038.5(APC):c.423-3_423-2delTA http://identifiers.org/clinvar/217984 ^@ NM_000038.5(APC):c.450_453delAGAA (p.Glu151Lysfs) http://identifiers.org/clinvar/217990 ^@ NM_000038.5(APC):c.475dupT (p.Tyr159Leufs) http://identifiers.org/clinvar/217991 ^@ NM_000038.5(APC):c.487C>T (p.Gln163Ter) http://identifiers.org/clinvar/217993 ^@ NM_000038.5(APC):c.524_531+4delCTGAAAATGTAA http://identifiers.org/clinvar/217994 ^@ NM_000038.5(APC):c.531+2T>A http://identifiers.org/clinvar/217995 ^@ NM_000038.5(APC):c.531+2T>C http://identifiers.org/clinvar/217996 ^@ NM_000038.5(APC):c.541C>T (p.Gln181Ter) http://identifiers.org/clinvar/218000 ^@ NM_000038.5(APC):c.645+1G>A http://identifiers.org/clinvar/218001 ^@ NM_000038.5(APC):c.645+32C>T http://identifiers.org/clinvar/218002 ^@ NM_000038.5(APC):c.645+61C>T http://identifiers.org/clinvar/218003 ^@ NM_000038.5(APC):c.677delA (p.Lys226Argfs) http://identifiers.org/clinvar/218004 ^@ NM_000038.5(APC):c.729+31A>G http://identifiers.org/clinvar/218006 ^@ NM_000038.5(APC):c.730-29A>T http://identifiers.org/clinvar/218005 ^@ NM_000038.5(APC):c.730-22G>C http://identifiers.org/clinvar/218008 ^@ NM_000038.5(APC):c.800delG (p.Gly267Glufs) http://identifiers.org/clinvar/218009 ^@ NM_000038.5(APC):c.835-24A>T http://identifiers.org/clinvar/217918 ^@ NM_000038.5(APC):c.1045C>T (p.Gln349Ter) http://identifiers.org/clinvar/217919 ^@ NM_000038.5(APC):c.1229dupT (p.Leu410Phefs) http://identifiers.org/clinvar/217920 ^@ NM_000038.5(APC):c.1243G>A (p.Ala415Thr) http://identifiers.org/clinvar/217921 ^@ NM_000038.5(APC):c.1297C>T (p.Gln433Ter) http://identifiers.org/clinvar/217922 ^@ NM_000038.5(APC):c.1310C>G (p.Pro437Arg) http://identifiers.org/clinvar/217923 ^@ NM_000038.5(APC):c.1312+1G>A http://identifiers.org/clinvar/217924 ^@ NM_000038.5(APC):c.1312+3A>G http://identifiers.org/clinvar/217925 ^@ NM_000038.5(APC):c.1408+27A>G http://identifiers.org/clinvar/217927 ^@ NM_000038.5(APC):c.1409-1G>T http://identifiers.org/clinvar/217928 ^@ NM_000038.5(APC):c.1433T>G (p.Leu478Ter) http://identifiers.org/clinvar/217929 ^@ NM_000038.5(APC):c.1500T>A (p.Tyr500Ter) http://identifiers.org/clinvar/217930 ^@ NM_000038.5(APC):c.1525_1527delACT (p.Thr509del) http://identifiers.org/clinvar/217931 ^@ NM_000038.5(APC):c.1549-1G>A http://identifiers.org/clinvar/217932 ^@ NM_000038.5(APC):c.1609delA (p.Ser537Valfs) http://identifiers.org/clinvar/217933 ^@ NM_000038.5(APC):c.1627-93A>C http://identifiers.org/clinvar/217934 ^@ NM_000038.5(APC):c.1629T>C (p.Val543=) http://identifiers.org/clinvar/217935 ^@ NM_000038.5(APC):c.1658G>A (p.Trp553Ter) http://identifiers.org/clinvar/217937 ^@ NM_000038.5(APC):c.1892_1904delTTATTGAAAGTGGinsAAT (p.Ile631Lysfs) http://identifiers.org/clinvar/217939 ^@ NM_000038.5(APC):c.1959-1G>A http://identifiers.org/clinvar/217940 ^@ NM_000038.5(APC):c.1972_1975delGAGA (p.Glu658Thrfs) http://identifiers.org/clinvar/217941 ^@ NM_000038.5(APC):c.1997_1999delTACinsA (p.Leu666Terfs) http://identifiers.org/clinvar/217942 ^@ NM_000038.5(APC):c.2060T>G (p.Leu687Arg) http://identifiers.org/clinvar/217944 ^@ NM_000038.5(APC):c.2183delA (p.Asn728Ilefs) http://identifiers.org/clinvar/217949 ^@ NM_000038.5(APC):c.2325delT (p.Asn775Lysfs) http://identifiers.org/clinvar/217951 ^@ NM_000038.5(APC):c.2624dupA (p.Arg876Alafs) http://identifiers.org/clinvar/217953 ^@ NM_000038.5(APC):c.2759delA (p.Asn920Metfs) http://identifiers.org/clinvar/217954 ^@ NM_000038.5(APC):c.2804dupA (p.Tyr935Terfs) http://identifiers.org/clinvar/217955 ^@ NM_000038.5(APC):c.2806_2813dupAATTTCAC (p.Lys939Ilefs) http://identifiers.org/clinvar/217956 ^@ NM_000038.5(APC):c.2886delT (p.Asp962Glufs) http://identifiers.org/clinvar/217959 ^@ NM_000038.5(APC):c.3054_3063delTGGAGAACTA (p.Asp1018Glufs) http://identifiers.org/clinvar/217960 ^@ NM_000038.5(APC):c.3079dupT (p.Tyr1027Leufs) http://identifiers.org/clinvar/217961 ^@ NM_000038.5(APC):c.3125delG (p.Ser1042Ilefs) http://identifiers.org/clinvar/217962 ^@ NM_000038.5(APC):c.3135_3136delGA (p.Asn1046Terfs) http://identifiers.org/clinvar/217963 ^@ NM_000038.5(APC):c.3139G>T (p.Glu1047Ter) http://identifiers.org/clinvar/217964 ^@ NM_000038.5(APC):c.3147G>A (p.Trp1049Ter) http://identifiers.org/clinvar/217965 ^@ NM_000038.5(APC):c.3298_3301delTCTC (p.Ser1100Hisfs) http://identifiers.org/clinvar/217966 ^@ NM_000038.5(APC):c.3304_3307delTACA (p.Tyr1102Glyfs) http://identifiers.org/clinvar/217967 ^@ NM_000038.5(APC):c.3535dupT (p.Tyr1179Leufs) http://identifiers.org/clinvar/217968 ^@ NM_000038.5(APC):c.3602C>A (p.Ser1201Ter) http://identifiers.org/clinvar/217969 ^@ NM_000038.5(APC):c.3688C>T (p.Gln1230Ter) http://identifiers.org/clinvar/217970 ^@ NM_000038.5(APC):c.3785dupA (p.Tyr1262Terfs) http://identifiers.org/clinvar/217971 ^@ NM_000038.5(APC):c.3791dupT (p.Glu1265Argfs) http://identifiers.org/clinvar/217972 ^@ NM_000038.5(APC):c.3810T>A (p.Cys1270Ter) http://identifiers.org/clinvar/217973 ^@ NM_000038.5(APC):c.3815C>G (p.Ser1272Ter) http://identifiers.org/clinvar/217974 ^@ NM_000038.5(APC):c.3937A>G (p.Thr1313Ala) http://identifiers.org/clinvar/217975 ^@ NM_000038.5(APC):c.3939_3940dupTA (p.Arg1314Ilefs) http://identifiers.org/clinvar/217976 ^@ NM_000038.5(APC):c.4025dupT (p.Leu1342Phefs) http://identifiers.org/clinvar/217977 ^@ NM_000038.5(APC):c.4075A>T (p.Lys1359Ter) http://identifiers.org/clinvar/217978 ^@ NM_000038.5(APC):c.4166delC (p.Ser1389Leufs) http://identifiers.org/clinvar/217983 ^@ NM_000038.5(APC):c.4495G>T (p.Gly1499Ter) http://identifiers.org/clinvar/217985 ^@ NM_000038.5(APC):c.4634C>G (p.Ser1545Ter) http://identifiers.org/clinvar/217986 ^@ NM_000038.5(APC):c.4645C>T (p.Gln1549Ter) http://identifiers.org/clinvar/217987 ^@ NM_000038.5(APC):c.4652_4655delAAGA (p.Lys1551Argfs) http://identifiers.org/clinvar/217988 ^@ NM_000038.5(APC):c.4733_4734delGT (p.Cys1578Tyrfs) http://identifiers.org/clinvar/217989 ^@ NM_000038.5(APC):c.4748_4752delTGCCA (p.Met1583Asnfs) http://identifiers.org/clinvar/217992 ^@ NM_000038.5(APC):c.5145delC (p.Asp1715Glufs) http://identifiers.org/clinvar/217997 ^@ NM_000038.5(APC):c.5804dupA (p.Ser1936Valfs) http://identifiers.org/clinvar/217998 ^@ NM_000038.5(APC):c.5936delA (p.Asn1979Thrfs) http://identifiers.org/clinvar/217999 ^@ NM_000038.5(APC):c.5996delC (p.Pro1999Glnfs) http://identifiers.org/clinvar/218007 ^@ NM_000038.5(APC):c.7511G>A (p.Trp2504Ter) http://identifiers.org/clinvar/218082 ^@ NR_023343.1(RNU4ATAC):n.16G>A http://identifiers.org/clinvar/218083 ^@ NR_023343.1(RNU4ATAC):n.13C>T http://identifiers.org/clinvar/218084 ^@ NR_023343.1(RNU4ATAC):n.37G>A http://identifiers.org/clinvar/218085 ^@ NR_023343.1(RNU4ATAC):n.48G>A http://identifiers.org/clinvar/218086 ^@ NR_023343.1(RNU4ATAC):n.8C>T http://identifiers.org/clinvar/218087 ^@ NR_023343.1(RNU4ATAC):n.118T>C http://identifiers.org/clinvar/218088 ^@ NM_033453.3(ITPA):c.264-607_295+1267del1906 http://identifiers.org/clinvar/218089 ^@ NM_001324236.1(ITPA):c.115G>A (p.Gly39Arg) http://identifiers.org/clinvar/218090 ^@ NM_001324236.1(ITPA):c.195C>T (p.Ile65=) http://identifiers.org/clinvar/218091 ^@ NM_033453.3(ITPA):c.359_366dupTCAGCACC (p.Gly123Serfs) http://identifiers.org/clinvar/218092 ^@ NM_002528.6(NTHL1):c.709+1G>A http://identifiers.org/clinvar/218093 ^@ NM_000238.3(KCNH2):c.1786C>G (p.Pro596Ala) http://identifiers.org/clinvar/218096 ^@ NM_001382.3(DPAGT1):c.584C>G (p.Ala195Gly) http://identifiers.org/clinvar/218094 ^@ NM_002435.2(MPI):c.1205A>G (p.Glu402Gly) http://identifiers.org/clinvar/218095 ^@ NM_002435.2(MPI):c.1253G>A (p.Arg418His) http://identifiers.org/clinvar/218097 ^@ NM_018622.6(PARL):c.230G>A (p.Ser77Asn) http://identifiers.org/clinvar/218098 ^@ NM_001172509.1(SATB2):c.170_346dup177 http://identifiers.org/clinvar/218099 ^@ NM_024809.4(TCTN2):c.1235_1312del (p.Ile413_Gly438del) http://identifiers.org/clinvar/218100 ^@ NM_024809.4(TCTN2):c.1873C>T (p.Gln625Ter) http://identifiers.org/clinvar/218104 ^@ NM_003491.3(NAA10):c.128A>C (p.Tyr43Ser) http://identifiers.org/clinvar/218105 ^@ NM_014008.4(CCDC22):c.49A>G (p.Thr17Ala) http://identifiers.org/clinvar/218106 ^@ NM_014008.4(CCDC22):c.1670A>G (p.Tyr557Cys) http://identifiers.org/clinvar/218107 ^@ NM_182896.2(ARL13B):c.257A>G (p.Tyr86Cys) http://identifiers.org/clinvar/218108 ^@ NM_004208.3(AIFM1):c.1352G>A (p.Arg451Gln) http://identifiers.org/clinvar/218110 ^@ NM_004208.3(AIFM1):c.778A>G (p.Thr260Ala) http://identifiers.org/clinvar/218113 ^@ NM_020859.3(SHROOM3):c.2848dupG (p.Ala950Glyfs) http://identifiers.org/clinvar/218114 ^@ NM_020859.3(SHROOM3):c.1176C>G (p.Tyr392Ter) http://identifiers.org/clinvar/218115 ^@ NM_152281.2(GORAB):c.733G>C (p.Ala245Pro) http://identifiers.org/clinvar/218132 ^@ NM_001101.3(ACTB):c.1090G>A (p.Glu364Lys) http://identifiers.org/clinvar/218133 ^@ NP_001092.1(ACTB):p.Val209Leu http://identifiers.org/clinvar/218134 ^@ NM_000520.5(HEXA):c.1385A>T (p.Glu462Val) http://identifiers.org/clinvar/218138 ^@ NM_000414.3(HSD17B4):c.302+1_302+4delGTGA http://identifiers.org/clinvar/218139 ^@ NM_001242828.1(ELOVL5):c.838-40_838-37dupCTGT http://identifiers.org/clinvar/218140 ^@ NM_005419.3(STAT2):c.381+5G>C http://identifiers.org/clinvar/218141 ^@ NM_005419.3(STAT2):c.1836C>A (p.Cys612Ter) http://identifiers.org/clinvar/218142 ^@ NM_025137.3(SPG11):c.6632dupG (p.Pro2212Serfs) http://identifiers.org/clinvar/218143 ^@ NM_025137.3(SPG11):c.592C>T (p.Gln198Ter) http://identifiers.org/clinvar/218144 ^@ NM_016653.2(MAP3K20):c.1103T>G (p.Phe368Cys) http://identifiers.org/clinvar/218145 ^@ NM_002500.4(NEUROD1):c.309C>G (p.Arg103=) http://identifiers.org/clinvar/218149 ^@ NM_015100.3(POGZ):c.2935C>T (p.Arg979Ter) http://identifiers.org/clinvar/218150 ^@ NM_015100.3(POGZ):c.2780dupT (p.Leu927Phefs) http://identifiers.org/clinvar/218147 ^@ NM_015100.3(POGZ):c.2763dupC (p.Thr922Hisfs) http://identifiers.org/clinvar/218146 ^@ NM_015100.3(POGZ):c.2321_2324delCTCT (p.Ser774Cysfs) http://identifiers.org/clinvar/218148 ^@ NM_015100.3(POGZ):c.833C>G (p.Ser278Ter) http://identifiers.org/clinvar/218151 ^@ NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter) http://identifiers.org/clinvar/218152 ^@ NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter) http://identifiers.org/clinvar/218153 ^@ NM_014334.3(FRRS1L):c.737_739delGAG (p.Gly246del) http://identifiers.org/clinvar/218154 ^@ NM_014334.3(FRRS1L):c.436dupA (p.Ile146Asnfs) http://identifiers.org/clinvar/242451 ^@ NM_000543.4(SMPD1):c.1343A>G (p.Tyr448Cys) http://identifiers.org/clinvar/218156 ^@ NM_005591.3(MRE11):c.901C>G (p.Leu301Val) http://identifiers.org/clinvar/218157 ^@ NM_001005735.1(CHEK2):c.1214G>A (p.Cys405Tyr) http://identifiers.org/clinvar/218158 ^@ NM_138701.3(MPLKIP):c.505dupA (p.Thr169Asnfs) http://identifiers.org/clinvar/218160 ^@ NM_207585.2(IFNAR2):c.311delA (p.Glu104Glyfs) http://identifiers.org/clinvar/218161 ^@ NM_178857.5(RP1L1):c.3596C>G (p.Ser1199Cys) http://identifiers.org/clinvar/218163 ^@ NM_003234.3(TFRC):c.58T>C (p.Tyr20His) http://identifiers.org/clinvar/218164 ^@ NM_001143981.1(CHRDL1):c.807_808delTC (p.His270Trpfs) http://identifiers.org/clinvar/218165 ^@ NM_133259.3(LRPPRC):c.3826_3900del http://identifiers.org/clinvar/218166 ^@ NM_133259.3(LRPPRC):c.2595_2597delGGT (p.Val866del) http://identifiers.org/clinvar/218167 ^@ NM_133259.3(LRPPRC):c.2726_2728delAGA (p.Lys909del) http://identifiers.org/clinvar/218168 ^@ NM_133259.3(LRPPRC):c.1489_1582del http://identifiers.org/clinvar/218169 ^@ NM_133259.3(LRPPRC):c.3147dupA (p.Gly1050Argfs) http://identifiers.org/clinvar/218170 ^@ NM_177550.4(SLC13A5):c.1280C>T (p.Ser427Leu) http://identifiers.org/clinvar/218171 ^@ NM_177550.4(SLC13A5):c.1022G>A (p.Trp341Ter) http://identifiers.org/clinvar/218172 ^@ NM_177550.4(SLC13A5):c.1207_1217dupCAGGAGAAAGT (p.Pro407Argfs) http://identifiers.org/clinvar/218173 ^@ NM_177550.4(SLC13A5):c.425C>T (p.Thr142Met) http://identifiers.org/clinvar/218174 ^@ NM_177550.4(SLC13A5):c.1570G>C (p.Asp524His) http://identifiers.org/clinvar/218175 ^@ NM_033109.4(PNPT1):c.404-1G>A http://identifiers.org/clinvar/218179 ^@ NM_005689.2(ABCB6):c.1124G>A (p.Arg375Gln) http://identifiers.org/clinvar/218180 ^@ NM_005689.2(ABCB6):c.1123C>T (p.Arg375Trp) http://identifiers.org/clinvar/218181 ^@ NM_005689.2(ABCB6):c.2168G>A (p.Arg723Gln) http://identifiers.org/clinvar/218182 ^@ NM_000342.3(SLC4A1):c.2191T>C (p.Ser731Pro) http://identifiers.org/clinvar/218183 ^@ NM_000342.3(SLC4A1):c.2201A>G (p.His734Arg) http://identifiers.org/clinvar/218184 ^@ NM_000342.3(SLC4A1):c.2060T>C (p.Leu687Pro) http://identifiers.org/clinvar/218187 ^@ NM_080600.2(MAG):c.399C>G (p.Ser133Arg) http://identifiers.org/clinvar/218188 ^@ NM_020647.3(JPH1):c.638G>C (p.Arg213Pro) http://identifiers.org/clinvar/218194 ^@ NM_001142772.1(PCDH15):c.400C>T (p.Arg134Ter) http://identifiers.org/clinvar/218193 ^@ NM_005709.3(USH1C):c.7C>T (p.Arg3Ter) http://identifiers.org/clinvar/218192 ^@ NM_000260.3(MYO7A):c.1845delG (p.Lys615Asnfs) http://identifiers.org/clinvar/218234 ^@ NM_016218.3(POLK):c.85G>A (p.Glu29Lys) http://identifiers.org/clinvar/218231 ^@ NM_016218.3(POLK):c.410C>T (p.Ser137Phe) http://identifiers.org/clinvar/218232 ^@ NM_016218.3(POLK):c.461G>A (p.Gly154Glu) http://identifiers.org/clinvar/218230 ^@ NM_016218.3(POLK):c.464T>C (p.Phe155Ser) http://identifiers.org/clinvar/218233 ^@ NM_016218.3(POLK):c.512T>C (p.Phe171Ser) http://identifiers.org/clinvar/218216 ^@ NM_016218.3(POLK):c.1256A>G (p.Glu419Gly) http://identifiers.org/clinvar/218217 ^@ NM_016218.3(POLK):c.1284G>A (p.Ala428=) http://identifiers.org/clinvar/218219 ^@ NM_016218.3(POLK):c.1289A>G (p.Glu430Gly) http://identifiers.org/clinvar/218218 ^@ NM_016218.3(POLK):c.1324C>T (p.Leu442Phe) http://identifiers.org/clinvar/218220 ^@ NM_016218.3(POLK):c.1341G>A (p.Gln447=) http://identifiers.org/clinvar/218221 ^@ NM_016218.3(POLK):c.1345G>A (p.Glu449Lys) http://identifiers.org/clinvar/218228 ^@ NM_016218.3(POLK):c.1381A>G (p.Lys461Glu) http://identifiers.org/clinvar/218229 ^@ NM_016218.3(POLK):c.1460T>C (p.Ile487Thr) http://identifiers.org/clinvar/218224 ^@ NM_016218.3(POLK):c.1582A>T (p.Ser528Cys) http://identifiers.org/clinvar/218225 ^@ NM_016218.3(POLK):c.1652A>T (p.Asp551Val) http://identifiers.org/clinvar/218226 ^@ NM_016218.3(POLK):c.1692G>A (p.Lys564=) http://identifiers.org/clinvar/218227 ^@ NM_016218.3(POLK):c.1741G>A (p.Asp581Asn) http://identifiers.org/clinvar/218222 ^@ NM_016218.3(POLK):c.2033C>T (p.Ser678Phe) http://identifiers.org/clinvar/218223 ^@ NM_016218.3(POLK):c.2192T>A (p.Leu731His) http://identifiers.org/clinvar/218235 ^@ NM_016218.3(POLK):c.2598T>G (p.Asp866Glu) http://identifiers.org/clinvar/218236 ^@ NM_006218.3(PIK3CA):c.335T>A (p.Ile112Asn) http://identifiers.org/clinvar/218239 ^@ NM_003235.4(TG):c.638+5G>A http://identifiers.org/clinvar/218238 ^@ NM_017662.4(TRPM6):c.2667+1G>A http://identifiers.org/clinvar/218244 ^@ NM_003035.2(STIL):c.266_453del http://identifiers.org/clinvar/218245 ^@ NM_015114.2(ANKLE2):c.2344C>T (p.Gln782Ter) http://identifiers.org/clinvar/218246 ^@ NM_015114.2(ANKLE2):c.1717C>G (p.Leu573Val) http://identifiers.org/clinvar/218251 ^@ NM_000282.3(PCCA):c.105+1G>A http://identifiers.org/clinvar/218261 ^@ NM_000282.3(PCCA):c.134_135delTA (p.Leu45Tyrfs) http://identifiers.org/clinvar/218265 ^@ NM_000282.3(PCCA):c.183delA http://identifiers.org/clinvar/218257 ^@ NM_000282.3(PCCA):c.184-1G>A http://identifiers.org/clinvar/218248 ^@ NM_000282.3(PCCA):c.284A>G (p.Asp95Gly) http://identifiers.org/clinvar/218259 ^@ NM_000282.3(PCCA):c.431G>T (p.Gly144Val) http://identifiers.org/clinvar/218260 ^@ NM_000282.3(PCCA):c.467T>A (p.Leu156Ter) http://identifiers.org/clinvar/218263 ^@ NM_000282.3(PCCA):c.548T>G (p.Leu183Ter) http://identifiers.org/clinvar/218249 ^@ NM_000282.3(PCCA):c.600+1G>T http://identifiers.org/clinvar/218262 ^@ NM_000282.3(PCCA):c.863G>A (p.Arg288Lys) http://identifiers.org/clinvar/218252 ^@ NM_000282.3(PCCA):c.878A>G (p.Gln293Arg) http://identifiers.org/clinvar/218254 ^@ NM_000282.3(PCCA):c.1190_1193delAATG (p.Glu397Valfs) http://identifiers.org/clinvar/218264 ^@ NM_000282.3(PCCA):c.1426C>T (p.Arg476Ter) http://identifiers.org/clinvar/218258 ^@ NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) http://identifiers.org/clinvar/218250 ^@ NM_000282.3(PCCA):c.1747-1G>C http://identifiers.org/clinvar/218266 ^@ NM_000282.3(PCCA):c.2002G>A (p.Gly668Arg) http://identifiers.org/clinvar/218256 ^@ NM_000282.3(PCCA):c.2040G>A (p.Ala680=) http://identifiers.org/clinvar/218253 ^@ NM_000282.3(PCCA):c.2062T>C (p.Cys688Arg) http://identifiers.org/clinvar/218279 ^@ NM_000264.3(PTCH1):c.2539_2542delTACTinsAG (p.Tyr847Serfs) http://identifiers.org/clinvar/218278 ^@ NM_000051.3(ATM):c.6415_6416delGA (p.Glu2139Ilefs) http://identifiers.org/clinvar/218290 ^@ NM_007294.3(BRCA1):c.(?_-1)_134+?del http://identifiers.org/clinvar/218291 ^@ NM_007294.3(BRCA1):c.(?_-1)_80+?del http://identifiers.org/clinvar/218288 ^@ NM_000304.2(PMP22):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/218289 ^@ NM_000304.2(PMP22):c.(?_-1)_(*1_?)dup http://identifiers.org/clinvar/218294 ^@ NM_001063.3(TF):c.1825C>T (p.Arg609Trp) http://identifiers.org/clinvar/218295 ^@ NM_000324.2(RHAG):c.194T>C (p.Phe65Ser) http://identifiers.org/clinvar/218296 ^@ NM_000324.2(RHAG):c.182T>G (p.Ile61Arg) http://identifiers.org/clinvar/218297 ^@ NM_001128227.2(GNE):c.740T>C (p.Val247Ala) http://identifiers.org/clinvar/218301 ^@ NM_003172.3(SURF1):c.107-2A>G http://identifiers.org/clinvar/218303 ^@ NM_003172.3(SURF1):c.799_800delCT (p.Leu267Glufs) http://identifiers.org/clinvar/218305 ^@ NM_007126.3(VCP):c.553G>A (p.Glu185Lys) http://identifiers.org/clinvar/218306 ^@ NM_007126.3(VCP):c.290G>A (p.Gly97Glu) http://identifiers.org/clinvar/218307 ^@ NM_001303256.2(MORC2):c.754C>T (p.Arg252Trp) http://identifiers.org/clinvar/218308 ^@ NM_001303256.2(MORC2):c.260C>T (p.Ser87Leu) http://identifiers.org/clinvar/218309 ^@ NM_001615.3(ACTG2):c.134T>C (p.Met45Thr) http://identifiers.org/clinvar/218310 ^@ NM_001615.3(ACTG2):c.187C>G (p.Arg63Gly) http://identifiers.org/clinvar/218311 ^@ NM_001615.3(ACTG2):c.255+210C>A http://identifiers.org/clinvar/218312 ^@ NM_001615.3(ACTG2):c.593G>A (p.Gly198Asp) http://identifiers.org/clinvar/218314 ^@ NM_001009994.2(RIPPLY2):c.299delT (p.Leu100Argfs) http://identifiers.org/clinvar/218315 ^@ NM_001131005.2(MEF2C):c.9A>T (p.Arg3Ser) http://identifiers.org/clinvar/218316 ^@ NM_001098.2(ACO2):c.1819C>T (p.Arg607Cys) http://identifiers.org/clinvar/218317 ^@ NM_001098.2(ACO2):c.2135C>T (p.Pro712Leu) http://identifiers.org/clinvar/218320 ^@ NM_130838.1(UBE3A):c.1811_1812delGT (p.Cys604Tyrfs) http://identifiers.org/clinvar/218319 ^@ NM_000462.3(UBE3A):c.1432A>G (p.Met478Val) http://identifiers.org/clinvar/218318 ^@ NM_000462.3(UBE3A):c.128G>T (p.Gly43Val) http://identifiers.org/clinvar/242450 ^@ NM_000302.3(PLOD1):c.136C>T (p.Arg46Cys) http://identifiers.org/clinvar/242449 ^@ NM_000302.3(PLOD1):c.2075C>T (p.Pro692Leu) http://identifiers.org/clinvar/218322 ^@ NM_052845.3(MMAB):c.520_584del65 http://identifiers.org/clinvar/218323 ^@ NM_052845.3(MMAB):c.287T>C (p.Ile96Thr) http://identifiers.org/clinvar/218324 ^@ NM_052845.3(MMAB):c.571C>T (p.Arg191Trp) http://identifiers.org/clinvar/218325 ^@ NM_052845.3(MMAB):c.349_354delATCCAG http://identifiers.org/clinvar/218326 ^@ NM_052845.3(MMAB):c.197_290del94 http://identifiers.org/clinvar/218327 ^@ NM_052845.3(MMAB):c.570_572dupCCG (p.Arg191_Ala192insArg) http://identifiers.org/clinvar/218328 ^@ NM_052845.3(MMAB):c.548A>T (p.His183Leu) http://identifiers.org/clinvar/218329 ^@ NM_005912.2(MC4R):c.751A>C (p.Ile251Leu) http://identifiers.org/clinvar/218330 ^@ NM_005912.2(MC4R):c.307G>A (p.Val103Ile) http://identifiers.org/clinvar/218332 ^@ NM_000434.3(NEU1):c.1170C>G (p.Tyr390Ter) http://identifiers.org/clinvar/218331 ^@ NM_000434.3(NEU1):c.353-2A>G http://identifiers.org/clinvar/218333 ^@ NM_006516.2(SLC2A1):c.857G>A (p.Gly286Asp) http://identifiers.org/clinvar/218334 ^@ NM_006516.2(SLC2A1):c.1306_1308delATC (p.Ile436del) http://identifiers.org/clinvar/218335 ^@ NM_000520.5(HEXA):c.340G>A (p.Glu114Lys) http://identifiers.org/clinvar/218336 ^@ NM_000391.3(TPP1):c.1376A>C (p.Tyr459Ser) http://identifiers.org/clinvar/218337 ^@ NM_000520.5(HEXA):c.1178G>C (p.Arg393Pro) http://identifiers.org/clinvar/218339 ^@ NM_000965.4(RARB):c.638T>C (p.Leu213Pro) http://identifiers.org/clinvar/218338 ^@ NM_000965.4(RARB):c.887G>C (p.Gly296Ala) http://identifiers.org/clinvar/218345 ^@ NM_003048.5(SLC9A2):c.2168delC (p.Gln725Serfs) http://identifiers.org/clinvar/218346 ^@ NM_001134194.1(ACPP):c.848_850delTCA (p.Ile284del) http://identifiers.org/clinvar/218340 ^@ NM_153487.3(MDGA1):c.2674T>G (p.Phe892Val) http://identifiers.org/clinvar/218347 ^@ NM_015885.3(PCF11):c.3223delT (p.Phe1075Leufs) http://identifiers.org/clinvar/218341 ^@ NM_024535.4(CORO7):c.2772+50C>T http://identifiers.org/clinvar/218342 ^@ NM_000546.5(TP53):c.636delT (p.Arg213Aspfs) http://identifiers.org/clinvar/218343 ^@ NM_022904.2(RASAL3):c.-5C>G http://identifiers.org/clinvar/218344 ^@ NC_012920.1:m.14372C>A http://identifiers.org/clinvar/218349 ^@ NM_080680.2(COL11A2):c.2662C>A (p.Pro888Thr) http://identifiers.org/clinvar/218351 ^@ NM_199330.2(HOMER2):c.587G>C (p.Arg196Pro) http://identifiers.org/clinvar/218355 ^@ NM_183357.2(ADCY5):c.2088+1G>A http://identifiers.org/clinvar/218354 ^@ NM_183357.2(ADCY5):c.1253G>A (p.Arg418Gln) http://identifiers.org/clinvar/218358 ^@ NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) http://identifiers.org/clinvar/218359 ^@ NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) http://identifiers.org/clinvar/218360 ^@ NM_006329.3(FBLN5):c.376G>A (p.Val126Met) http://identifiers.org/clinvar/218361 ^@ NM_014780.4(CUL7):c.3173-1G>C http://identifiers.org/clinvar/218364 ^@ NM_171998.3(RAB39B):c.627_629delGAG (p.Arg210del) http://identifiers.org/clinvar/218362 ^@ NM_171998.3(RAB39B):c.574G>A (p.Gly192Arg) http://identifiers.org/clinvar/218363 ^@ NM_171998.3(RAB39B):c.428C>G (p.Ala143Gly) http://identifiers.org/clinvar/218365 ^@ NM_012343.3(NNT):c.1259dupG (p.His421Serfs) http://identifiers.org/clinvar/218366 ^@ NM_021729.5(VPS11):c.2536T>G (p.Cys846Gly) http://identifiers.org/clinvar/218369 ^@ NM_001218.4(CA12):c.908-1G>A http://identifiers.org/clinvar/218367 ^@ NM_001218.4(CA12):c.859_860insACCT (p.Thr287Asnfs) http://identifiers.org/clinvar/218368 ^@ NM_001218.4(CA12):c.363C>A (p.His121Gln) http://identifiers.org/clinvar/218370 ^@ NM_000081.3(LYST):c.2971C>A (p.His991Asn) http://identifiers.org/clinvar/218371 ^@ NM_005960.1(MUC3A):c.8480C>T (p.Thr2827Ile) http://identifiers.org/clinvar/218372 ^@ NM_005592.3(MUSK):c.308A>G (p.Asn103Ser) http://identifiers.org/clinvar/218373 ^@ NM_005592.3(MUSK):c.2382G>C (p.Glu794Asp) http://identifiers.org/clinvar/218374 ^@ NM_014140.3(SMARCAL1):c.1132G>T (p.Glu378Ter) http://identifiers.org/clinvar/218375 ^@ NM_001015877.1(PHF6):c.418G>A (p.Ala140Thr) http://identifiers.org/clinvar/218376 ^@ NM_170707.3(LMNA):c.91_93delGAG (p.Glu31del) http://identifiers.org/clinvar/218377 ^@ NM_001134771.1(SLC12A5):c.2924G>A (p.Arg975His) http://identifiers.org/clinvar/218378 ^@ NM_001134771.1(SLC12A5):c.3214C>T (p.Arg1072Cys) http://identifiers.org/clinvar/218379 ^@ NM_101395.2(DYRK1A):c.208-1G>A http://identifiers.org/clinvar/218381 ^@ NM_000035.3(ALDOB):c.865delC (p.Leu289Phefs) http://identifiers.org/clinvar/218380 ^@ NM_000035.3(ALDOB):c.324+1G>A http://identifiers.org/clinvar/218382 ^@ NM_001271.3(CHD2):c.335C>G (p.Ser112Ter) http://identifiers.org/clinvar/218383 ^@ NM_001271.3(CHD2):c.1451dupT (p.Arg485Serfs) http://identifiers.org/clinvar/218384 ^@ NM_001271.3(CHD2):c.1502+1G>A http://identifiers.org/clinvar/218385 ^@ NM_001271.3(CHD2):c.1642T>C (p.Trp548Arg) http://identifiers.org/clinvar/218386 ^@ NM_001271.3(CHD2):c.1808delA (p.Lys603Argfs) http://identifiers.org/clinvar/218387 ^@ NM_001271.3(CHD2):c.1942C>T (p.Pro648Ser) http://identifiers.org/clinvar/218388 ^@ NM_001271.3(CHD2):c.2468T>C (p.Leu823Pro) http://identifiers.org/clinvar/218389 ^@ NM_001271.3(CHD2):c.2567A>G (p.Asp856Gly) http://identifiers.org/clinvar/218390 ^@ NM_001271.3(CHD2):c.2725C>T (p.Gln909Ter) http://identifiers.org/clinvar/218395 ^@ NM_001271.3(CHD2):c.4173dupA (p.Gln1392Thrfs) http://identifiers.org/clinvar/218392 ^@ NM_001271.3(CHD2):c.4233_4236delAGAA (p.Glu1412Glyfs) http://identifiers.org/clinvar/218393 ^@ NM_001271.3(CHD2):c.4256_4274del19 (p.Lys1419Argfs) http://identifiers.org/clinvar/218394 ^@ NM_001271.3(CHD2):c.4720delG (p.Gly1575Valfs) http://identifiers.org/clinvar/218398 ^@ NM_001271.3(CHD2):c.4909C>T (p.Arg1637Ter) http://identifiers.org/clinvar/218399 ^@ NM_001271.3(CHD2):c.4921C>T (p.Gln1641Ter) http://identifiers.org/clinvar/218400 ^@ NM_001271.3(CHD2):c.4930_4931delAG (p.Arg1644Lysfs) http://identifiers.org/clinvar/218391 ^@ NP_001262.3(CHD2):p.Glu966SerfsTer2 http://identifiers.org/clinvar/218396 ^@ NP_001262.3(CHD2):p.Leu1591Xfs http://identifiers.org/clinvar/218397 ^@ NP_001262.3(CHD2):p.Asn1600Serfs*209 http://identifiers.org/clinvar/218401 ^@ NP_001262.3(CHD2):p.Gly1651TrpfsTer16 http://identifiers.org/clinvar/218416 ^@ NM_015909.3(NBAS):c.409C>T (p.Arg137Trp) http://identifiers.org/clinvar/218417 ^@ NC_000008.10:g.61716600_61721089del4490 http://identifiers.org/clinvar/218418 ^@ NM_000033.3(ABCD1):c.651G>C (p.Lys217Asn) http://identifiers.org/clinvar/218828 ^@ NM_080629.2(COL11A1):c.652-6delT http://identifiers.org/clinvar/218862 ^@ NM_183416.3(KIF1B):c.2421G>T (p.Met807Ile) http://identifiers.org/clinvar/218728 ^@ NM_015967.6(PTPN22):c.2250G>C (p.Lys750Asn) http://identifiers.org/clinvar/218686 ^@ NM_006594.4(AP4B1):c.767C>T (p.Thr256Ile) http://identifiers.org/clinvar/218795 ^@ NM_024408.3(NOTCH2):c.17_18delCC (p.Pro6Argfs) http://identifiers.org/clinvar/218796 ^@ NM_024408.3(NOTCH2):c.7G>T (p.Ala3Ser) http://identifiers.org/clinvar/218733 ^@ NM_016361.4(ACP6):c.652C>T (p.Arg218Trp) http://identifiers.org/clinvar/218697 ^@ NM_007259.4(VPS45):c.1664G>C (p.Arg555Pro) http://identifiers.org/clinvar/218687 ^@ NM_006617.1(NES):c.1825G>C (p.Glu609Gln) http://identifiers.org/clinvar/218832 ^@ NM_080875.2(MIB2):c.153C>A (p.Cys51Ter) http://identifiers.org/clinvar/218470 ^@ NM_000815.4(GABRD):c.668C>T (p.Thr223Met) http://identifiers.org/clinvar/218484 ^@ NM_001017402.1(LAMB3):c.1792C>T (p.Arg598Cys) http://identifiers.org/clinvar/218674 ^@ NM_005529.6(HSPG2):c.7722A>C (p.Leu2574Phe) http://identifiers.org/clinvar/218820 ^@ NM_032890.3(DISP1):c.4193G>A (p.Ser1398Asn) http://identifiers.org/clinvar/218605 ^@ NM_002296.3(LBR):c.866G>A (p.Gly289Glu) http://identifiers.org/clinvar/218604 ^@ NM_002296.3(LBR):c.367-5T>C http://identifiers.org/clinvar/218481 ^@ NM_001008493.2(ENAH):c.435-5delT http://identifiers.org/clinvar/218612 ^@ NM_002508.2(NID1):c.2550G>C (p.Gln850His) http://identifiers.org/clinvar/218486 ^@ NM_001035.2(RYR2):c.13476+6_13476+7insTGTT http://identifiers.org/clinvar/218487 ^@ NM_001035.2(RYR2):c.13564-41A>G http://identifiers.org/clinvar/218428 ^@ NM_000147.4(FUCA1):c.1082G>A (p.Trp361Ter) http://identifiers.org/clinvar/218429 ^@ NM_000147.4(FUCA1):c.525-4_525-3insTTCTGTTT http://identifiers.org/clinvar/218763 ^@ NM_020066.4(FMN2):c.1966C>T (p.Arg656Cys) http://identifiers.org/clinvar/218764 ^@ NM_020066.4(FMN2):c.2828C>T (p.Pro943Leu) http://identifiers.org/clinvar/218765 ^@ NM_020066.4(FMN2):c.2840C>T (p.Pro947Leu) http://identifiers.org/clinvar/218766 ^@ NM_020066.4(FMN2):c.2897T>C (p.Leu966Pro) http://identifiers.org/clinvar/218767 ^@ NM_020066.4(FMN2):c.3413C>T (p.Ala1138Val) http://identifiers.org/clinvar/218865 ^@ NM_198174.2(GRHL3):c.1696G>A (p.Glu566Lys) http://identifiers.org/clinvar/218813 ^@ NM_031844.2(HNRNPU):c.607G>A (p.Ala203Thr) http://identifiers.org/clinvar/218548 ^@ NM_001243133.1(NLRP3):c.1020C>T (p.Pro340=) http://identifiers.org/clinvar/218682 ^@ NM_006314.2(CNKSR1):c.332T>A (p.Val111Asp) http://identifiers.org/clinvar/218485 ^@ NM_001029882.3(AHDC1):c.3001G>A (p.Ala1001Thr) http://identifiers.org/clinvar/218791 ^@ NM_022114.3(PRDM16):c.2747C>T (p.Ala916Val) http://identifiers.org/clinvar/218716 ^@ NM_015284.3(SZT2):c.5174C>T (p.Ala1725Val) http://identifiers.org/clinvar/218544 ^@ NM_001199860.1(KCNAB2):c.1039A>G (p.Ile347Val) http://identifiers.org/clinvar/218580 ^@ NM_001271999.1(DOCK7):c.1460A>G (p.Lys487Arg) http://identifiers.org/clinvar/218655 ^@ NM_004815.3(ARHGAP29):c.3181G>A (p.Ala1061Thr) http://identifiers.org/clinvar/218656 ^@ NM_004815.3(ARHGAP29):c.358G>T (p.Val120Phe) http://identifiers.org/clinvar/218591 ^@ NM_001508.2(GPR39):c.1132G>A (p.Ala378Thr) http://identifiers.org/clinvar/218723 ^@ NM_015702.2(MMADHC):c.617A>G (p.Asn206Ser) http://identifiers.org/clinvar/218577 ^@ NM_001271208.1(NEB):c.7441A>G (p.Arg2481Gly) http://identifiers.org/clinvar/218576 ^@ NM_001271208.1(NEB):c.5049C>G (p.Asp1683Glu) http://identifiers.org/clinvar/218726 ^@ NM_015909.3(NBAS):c.4822A>G (p.Met1608Val) http://identifiers.org/clinvar/218474 ^@ NM_000888.4(ITGB6):c.2269-6_2269-5del http://identifiers.org/clinvar/218475 ^@ NM_000888.4(ITGB6):c.2269-6delT http://identifiers.org/clinvar/218794 ^@ NM_022168.3(IFIH1):c.2067G>T (p.Arg689Ser) http://identifiers.org/clinvar/218677 ^@ NM_006063.2(KLHL41):c.1639A>G (p.Ile547Val) http://identifiers.org/clinvar/218554 ^@ NM_001256090.1(ATF2):c.1013G>A (p.Ser338Asn) http://identifiers.org/clinvar/218457 ^@ NM_000523.3(HOXD13):c.500A>G (p.Tyr167Cys) http://identifiers.org/clinvar/218623 ^@ NM_003659.3(AGPS):c.214A>G (p.Thr72Ala) http://identifiers.org/clinvar/218572 ^@ NM_001267550.2(TTN):c.43978G>A (p.Gly14660Arg) http://identifiers.org/clinvar/218570 ^@ NM_001267550.2(TTN):c.24229C>A (p.Pro8077Thr) http://identifiers.org/clinvar/218569 ^@ NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) http://identifiers.org/clinvar/218571 ^@ NM_001267550.2(TTN):c.3410G>A (p.Gly1137Asp) http://identifiers.org/clinvar/218473 ^@ NM_000885.5(ITGA4):c.2471T>C (p.Val824Ala) http://identifiers.org/clinvar/218863 ^@ NM_194250.1(ZNF804A):c.1633G>A (p.Gly545Ser) http://identifiers.org/clinvar/218425 ^@ NM_000090.3(COL3A1):c.2135C>T (p.Pro712Leu) http://identifiers.org/clinvar/218758 ^@ NM_018534.3(NRP2):c.2716_2717insA (p.Cys906Terfs) http://identifiers.org/clinvar/218441 ^@ NM_000384.2(APOB):c.13153C>T (p.Arg4385Cys) http://identifiers.org/clinvar/218452 ^@ NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) http://identifiers.org/clinvar/218451 ^@ NM_000384.2(APOB):c.8462C>T (p.Pro2821Leu) http://identifiers.org/clinvar/218450 ^@ NM_000384.2(APOB):c.8353A>C (p.Asn2785His) http://identifiers.org/clinvar/218449 ^@ NM_000384.2(APOB):c.7721C>T (p.Ala2574Val) http://identifiers.org/clinvar/218448 ^@ NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) http://identifiers.org/clinvar/218447 ^@ NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) http://identifiers.org/clinvar/218446 ^@ NM_000384.2(APOB):c.4178C>T (p.Ala1393Val) http://identifiers.org/clinvar/218445 ^@ NM_000384.2(APOB):c.3724T>A (p.Ser1242Thr) http://identifiers.org/clinvar/218444 ^@ NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) http://identifiers.org/clinvar/218443 ^@ NM_000384.2(APOB):c.3337G>C (p.Asp1113His) http://identifiers.org/clinvar/218442 ^@ NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) http://identifiers.org/clinvar/218426 ^@ NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) http://identifiers.org/clinvar/218582 ^@ NM_001277061.1(MFF):c.484C>T (p.Arg162Cys) http://identifiers.org/clinvar/218787 ^@ NM_021027.2(UGT1A9):c.855+45828G>A http://identifiers.org/clinvar/218786 ^@ NM_021027.2(UGT1A9):c.1420G>T (p.Ala474Ser) http://identifiers.org/clinvar/218630 ^@ NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) http://identifiers.org/clinvar/218551 ^@ NM_001244008.1(KIF1A):c.2908C>T (p.Arg970Cys) http://identifiers.org/clinvar/218849 ^@ NM_152783.4(D2HGDH):c.-92-4C>G http://identifiers.org/clinvar/218793 ^@ NM_022134.2(GAL3ST2):c.29+1G>A http://identifiers.org/clinvar/218628 ^@ NM_004304.4(ALK):c.3271G>A (p.Asp1091Asn) http://identifiers.org/clinvar/218431 ^@ NM_000179.2(MSH6):c.3100C>T (p.Arg1034Trp) http://identifiers.org/clinvar/218514 ^@ NM_001135659.2(NRXN1):c.2947C>A (p.Leu983Ile) http://identifiers.org/clinvar/218715 ^@ NM_015189.2(EXOC6B):c.886T>G (p.Tyr296Asp) http://identifiers.org/clinvar/218713 ^@ NM_015120.4(ALMS1):c.75_77dupGGA (p.Glu29_Ala30insGlu) http://identifiers.org/clinvar/218681 ^@ NM_006302.2(MOGS):c.2017G>A (p.Val673Ile) http://identifiers.org/clinvar/218589 ^@ NM_001381.4(DOK1):c.1070A>G (p.Lys357Arg) http://identifiers.org/clinvar/218823 ^@ NM_033084.4(FANCD2):c.1278_1278+3delAGTA http://identifiers.org/clinvar/218824 ^@ NM_033084.4(FANCD2):c.2022-5C>T http://identifiers.org/clinvar/218482 ^@ NM_001009899.3(USF3):c.4416_4418delGCA (p.Gln1478del) http://identifiers.org/clinvar/218526 ^@ NM_001164343.2(ZBTB20):c.945C>G (p.Asp315Glu) http://identifiers.org/clinvar/218528 ^@ NM_001165974.1(UROC1):c.1889-5C>T http://identifiers.org/clinvar/218624 ^@ NM_003925.2(MBD4):c.1702G>C (p.Asp568His) http://identifiers.org/clinvar/218850 ^@ NM_153240.4(NPHP3):c.3913C>T (p.Arg1305Cys) http://identifiers.org/clinvar/218478 ^@ NM_001005861.2(RYK):c.10dupG (p.Ala4Glyfs) http://identifiers.org/clinvar/218708 ^@ NM_014461.3(CNTN6):c.2704C>T (p.Pro902Ser) http://identifiers.org/clinvar/218684 ^@ NM_006506.3(RASA2):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/218788 ^@ NM_021038.4(MBNL1):c.-1409C>T http://identifiers.org/clinvar/218711 ^@ NM_014932.3(NLGN1):c.645C>T (p.Leu215=) http://identifiers.org/clinvar/218756 ^@ NM_018406.6(MUC4):c.9239C>T (p.Ser3080Leu) http://identifiers.org/clinvar/218755 ^@ NM_018406.6(MUC4):c.8510T>G (p.Ile2837Ser) http://identifiers.org/clinvar/218754 ^@ NM_018406.6(MUC4):c.7349C>T (p.Pro2450Leu) http://identifiers.org/clinvar/218846 ^@ NM_152617.3(RNF168):c.508G>A (p.Glu170Lys) http://identifiers.org/clinvar/218518 ^@ NM_001145642.4(RUBCN):c.682C>A (p.Pro228Thr) http://identifiers.org/clinvar/218753 ^@ NM_018297.3(NGLY1):c.869A>G (p.Asn290Ser) http://identifiers.org/clinvar/218588 ^@ NM_001278182.1(EOMES):c.436C>T (p.Leu146Phe) http://identifiers.org/clinvar/218714 ^@ NM_015141.3(GPD1L):c.977C>A (p.Ala326Glu) http://identifiers.org/clinvar/218599 ^@ NM_001904.3(CTNNB1):c.1867C>T (p.Gln623Ter) http://identifiers.org/clinvar/218718 ^@ NM_015340.3(LARS2):c.2493G>T (p.Glu831Asp) http://identifiers.org/clinvar/218719 ^@ NM_015466.3(PTPN23):c.3388G>A (p.Gly1130Ser) http://identifiers.org/clinvar/218720 ^@ NM_015466.3(PTPN23):c.4655T>C (p.Leu1552Pro) http://identifiers.org/clinvar/218531 ^@ NM_001174051.2(CACNA2D2):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/218826 ^@ NM_052859.3(RFT1):c.1133A>G (p.Tyr378Cys) http://identifiers.org/clinvar/218523 ^@ NM_001164317.1(FLNB):c.1868A>T (p.Asp623Val) http://identifiers.org/clinvar/218524 ^@ NM_001164317.1(FLNB):c.4061+4G>A http://identifiers.org/clinvar/218525 ^@ NM_001164317.1(FLNB):c.5351T>G (p.Phe1784Cys) http://identifiers.org/clinvar/218866 ^@ NM_198271.4(LMOD3):c.1667C>A (p.Pro556Gln) http://identifiers.org/clinvar/218552 ^@ NM_001244815.1(FOXP1):c.95C>T (p.Ser32Leu) http://identifiers.org/clinvar/218598 ^@ NM_001813.2(CENPE):c.6907T>A (p.Phe2303Ile) http://identifiers.org/clinvar/218568 ^@ NM_001267039.1(LARP7):c.341C>T (p.Thr114Ile) http://identifiers.org/clinvar/218622 ^@ NM_003619.3(PRSS12):c.380G>A (p.Trp127Ter) http://identifiers.org/clinvar/218717 ^@ NM_015312.3(KIAA1109):c.3341C>T (p.Pro1114Leu) http://identifiers.org/clinvar/218706 ^@ NM_014264.4(PLK4):c.1935+6G>A http://identifiers.org/clinvar/218543 ^@ NM_001199282.2(LRBA):c.3499A>G (p.Thr1167Ala) http://identifiers.org/clinvar/218542 ^@ NM_001199282.2(LRBA):c.2444A>G (p.Asn815Ser) http://identifiers.org/clinvar/218679 ^@ NM_006206.4(PDGFRA):c.1135T>G (p.Leu379Val) http://identifiers.org/clinvar/218868 ^@ NM_198892.1(BMP2K):c.3481C>T (p.Gln1161Ter) http://identifiers.org/clinvar/218722 ^@ NM_015697.7(COQ2):c.344A>C (p.Asp115Ala) http://identifiers.org/clinvar/218545 ^@ NM_001203.2(BMPR1B):c.418G>A (p.Val140Ile) http://identifiers.org/clinvar/218507 ^@ NM_001127510.2(APC):c.7573C>T (p.Arg2525Cys) http://identifiers.org/clinvar/218808 ^@ NM_030782.4(CLPTM1L):c.436G>A (p.Gly146Arg) http://identifiers.org/clinvar/218643 ^@ NM_004598.3(SPOCK1):c.110A>G (p.Asn37Ser) http://identifiers.org/clinvar/218488 ^@ NM_001037633.1(SIL1):c.1039G>A (p.Glu347Lys) http://identifiers.org/clinvar/218860 ^@ NM_181675.3(PPP2R2B):c.43_57dupAGCAGCAGCAGCAGC (p.Ser19_Cys20insSerSerSerSerSer) http://identifiers.org/clinvar/218595 ^@ NM_001804.2(CDX1):c.427G>A (p.Gly143Arg) http://identifiers.org/clinvar/218729 ^@ NM_015981.3(CAMK2A):c.704C>T (p.Pro235Leu) http://identifiers.org/clinvar/218567 ^@ NM_001258021.1(GRIA1):c.31dupC (p.Leu11Profs) http://identifiers.org/clinvar/218869 ^@ NM_198903.2(GABRG2):c.21G>C (p.Trp7Cys) http://identifiers.org/clinvar/218529 ^@ NM_004387.3(NKX2-5):c.335-297dupT http://identifiers.org/clinvar/218477 ^@ NM_000958.2(PTGER4):c.880G>A (p.Val294Ile) http://identifiers.org/clinvar/218640 ^@ NM_004531.4(MOCS2):c.367C>T (p.His123Tyr) http://identifiers.org/clinvar/218778 ^@ NM_020928.1(ZSWIM6):c.69_74delCGGCGG (p.Gly25_Gly26del) http://identifiers.org/clinvar/218779 ^@ NM_020928.1(ZSWIM6):c.82_83insGCG (p.Gly33_Ala34insGly) http://identifiers.org/clinvar/218777 ^@ NM_020928.1(ZSWIM6):c.457_462delGGCGGC (p.Gly153_Gly154del) http://identifiers.org/clinvar/218757 ^@ NM_018429.2(BDP1):c.6023-6C>T http://identifiers.org/clinvar/218608 ^@ NM_002439.4(MSH3):c.181_182insCAGCGCCCC (p.Pro69_Ala70insProAlaPro) http://identifiers.org/clinvar/218814 ^@ NM_032119.3(ADGRV1):c.5587G>A (p.Val1863Ile) http://identifiers.org/clinvar/218815 ^@ NM_032119.3(ADGRV1):c.7370C>T (p.Ala2457Val) http://identifiers.org/clinvar/218456 ^@ NM_000439.4(PCSK1):c.1034A>C (p.Glu345Ala) http://identifiers.org/clinvar/218454 ^@ NM_000426.3(LAMA2):c.725G>A (p.Arg242His) http://identifiers.org/clinvar/218657 ^@ NM_015979.3(MED23):c.40-5dupT http://identifiers.org/clinvar/218587 ^@ NM_001278065.1(GRM1):c.925G>T (p.Val309Leu) http://identifiers.org/clinvar/218861 ^@ NM_182961.3(SYNE1):c.17203-6delT http://identifiers.org/clinvar/218776 ^@ NM_020732.3(ARID1B):c.3335G>A (p.Gly1112Asp) http://identifiers.org/clinvar/218472 ^@ NM_000876.3(IGF2R):c.6657C>T (p.Asp2219=) http://identifiers.org/clinvar/218439 ^@ NM_000332.3(ATXN1):c.624_626dupGCA (p.Gln208_His209insGln) http://identifiers.org/clinvar/218621 ^@ NM_003181.3(T):c.1187C>T (p.Ser396Leu) http://identifiers.org/clinvar/218493 ^@ NM_001040000.2(AFDN):c.1312A>G (p.Ile438Val) http://identifiers.org/clinvar/218854 ^@ NM_170740.1(ALDH5A1):c.709G>T (p.Ala237Ser) http://identifiers.org/clinvar/218532 ^@ NM_001177519.2(MICA):c.730G>C (p.Val244Leu) http://identifiers.org/clinvar/218499 ^@ NM_001069.2(TUBB2A):c.553G>A (p.Ala185Thr) http://identifiers.org/clinvar/218666 ^@ NM_005155.6(PPT2):c.766G>A (p.Val256Ile) http://identifiers.org/clinvar/218642 ^@ NM_004557.3(NOTCH4):c.45_47delGCT (p.Leu16del) http://identifiers.org/clinvar/218641 ^@ NM_004557.3(NOTCH4):c.36_47delGCTGCTGCTGCT (p.Leu13_Leu16del) http://identifiers.org/clinvar/218662 ^@ NM_005104.3(BRD2):c.35C>T (p.Pro12Leu) http://identifiers.org/clinvar/218691 ^@ NM_006772.2(SYNGAP1):c.1154C>G (p.Ser385Trp) http://identifiers.org/clinvar/218851 ^@ NM_153487.3(MDGA1):c.2335C>T (p.Leu779Phe) http://identifiers.org/clinvar/218818 ^@ NM_032538.2(TTBK1):c.331-3C>T http://identifiers.org/clinvar/218751 ^@ NM_018100.3(EFHC1):c.427A>G (p.Ile143Val) http://identifiers.org/clinvar/218633 ^@ NM_004415.3(DSP):c.3294C>G (p.Asp1098Glu) http://identifiers.org/clinvar/218634 ^@ NM_004415.3(DSP):c.6689C>T (p.Pro2230Leu) http://identifiers.org/clinvar/218635 ^@ NM_004415.3(DSP):c.7327C>T (p.Leu2443Phe) http://identifiers.org/clinvar/218636 ^@ NM_004415.3(DSP):c.8500C>T (p.Arg2834Cys) http://identifiers.org/clinvar/218661 ^@ NM_004999.3(MYO6):c.2266G>A (p.Val756Ile) http://identifiers.org/clinvar/218652 ^@ NM_004722.3(AP4M1):c.930G>A (p.Arg310=) http://identifiers.org/clinvar/218480 ^@ NM_001007245.2(IFRD1):c.634C>G (p.Leu212Val) http://identifiers.org/clinvar/218774 ^@ NM_020632.2(ATP6V0A4):c.1030-6_1030-5delTT http://identifiers.org/clinvar/218775 ^@ NM_020632.2(ATP6V0A4):c.1030-6delT http://identifiers.org/clinvar/218433 ^@ NM_000238.3(KCNH2):c.1558-5C>T http://identifiers.org/clinvar/218853 ^@ NM_170606.2(KMT2C):c.2532+6G>T http://identifiers.org/clinvar/218852 ^@ NM_170606.2(KMT2C):c.2016A>T (p.Glu672Asp) http://identifiers.org/clinvar/218491 ^@ NM_001039350.2(DPP6):c.1519A>C (p.Lys507Gln) http://identifiers.org/clinvar/218742 ^@ NM_017760.6(NCAPG2):c.3085G>A (p.Val1029Ile) http://identifiers.org/clinvar/218741 ^@ NM_017760.6(NCAPG2):c.2249A>G (p.His750Arg) http://identifiers.org/clinvar/218583 ^@ NM_001277115.1(DNAH11):c.58C>A (p.Arg20Ser) http://identifiers.org/clinvar/218848 ^@ NM_152701.4(ABCA13):c.1302C>A (p.Asn434Lys) http://identifiers.org/clinvar/218498 ^@ NM_001042762.3(FIGNL1):c.1519_1523delTCTCA (p.Ser507Thrfs) http://identifiers.org/clinvar/218462 ^@ NM_000535.6(PMS2):c.706-5_706-4delTT http://identifiers.org/clinvar/218461 ^@ NM_000535.6(PMS2):c.706-4delT http://identifiers.org/clinvar/218821 ^@ NM_032951.2(MLXIPL):c.1372A>C (p.Thr458Pro) http://identifiers.org/clinvar/218671 ^@ NM_005338.6(HIP1):c.2245G>A (p.Asp749Asn) http://identifiers.org/clinvar/218822 ^@ NM_033026.5(PCLO):c.14702A>G (p.Lys4901Arg) http://identifiers.org/clinvar/218701 ^@ NM_012431.2(SEMA3E):c.2102G>T (p.Ser701Ile) http://identifiers.org/clinvar/218721 ^@ NM_015545.3(PTCD1):c.295C>T (p.Arg99Trp) http://identifiers.org/clinvar/218530 ^@ NM_001172477.1(RRM2B):c.211dupC (p.Arg71Profs) http://identifiers.org/clinvar/218709 ^@ NM_014846.3(WASHC5):c.1007G>C (p.Arg336Thr) http://identifiers.org/clinvar/218710 ^@ NM_014846.3(WASHC5):c.639G>C (p.Gln213His) http://identifiers.org/clinvar/218812 ^@ NM_031466.7(TRAPPC9):c.3658G>A (p.Glu1220Lys) http://identifiers.org/clinvar/218870 ^@ NM_201380.3(PLEC):c.13708A>T (p.Lys4570Ter) http://identifiers.org/clinvar/218871 ^@ NM_201380.3(PLEC):c.6343G>T (p.Glu2115Ter) http://identifiers.org/clinvar/218626 ^@ NM_004260.3(RECQL4):c.2206G>A (p.Ala736Thr) http://identifiers.org/clinvar/218625 ^@ NM_004260.3(RECQL4):c.1028C>T (p.Pro343Leu) http://identifiers.org/clinvar/218627 ^@ NM_004260.3(RECQL4):c.929C>T (p.Pro310Leu) http://identifiers.org/clinvar/218702 ^@ NM_013959.3(NRG1):c.397G>C (p.Val133Leu) http://identifiers.org/clinvar/218745 ^@ NM_017780.3(CHD7):c.3881T>C (p.Leu1294Pro) http://identifiers.org/clinvar/218746 ^@ NM_017780.3(CHD7):c.8356G>A (p.Gly2786Arg) http://identifiers.org/clinvar/218845 ^@ NM_152414.4(BHLHE22):c.660_661insAGCGGC (p.Gly224_Gly225insSerGly) http://identifiers.org/clinvar/218747 ^@ NM_017866.5(TMEM70):c.580G>A (p.Val194Met) http://identifiers.org/clinvar/218752 ^@ NM_018249.5(CDK5RAP2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/218837 ^@ NM_138777.4(MRRF):c.646A>G (p.Met216Val) http://identifiers.org/clinvar/218639 ^@ NM_004435.2(ENDOG):c.889_892delAAGT (p.Lys297Glufs) http://identifiers.org/clinvar/218515 ^@ NM_001136113.1(POMT1):c.1303G>A (p.Val435Ile) http://identifiers.org/clinvar/218596 ^@ NM_001807.4(CEL):c.16C>T (p.Arg6Cys) http://identifiers.org/clinvar/218597 ^@ NM_001807.4(CEL):c.2143G>A (p.Ala715Thr) http://identifiers.org/clinvar/218511 ^@ NM_001128228.2(TPRN):c.1712C>G (p.Ser571Cys) http://identifiers.org/clinvar/218843 ^@ NM_144966.5(FREM1):c.4412G>A (p.Ser1471Asn) http://identifiers.org/clinvar/218842 ^@ NM_144966.5(FREM1):c.2663C>T (p.Pro888Leu) http://identifiers.org/clinvar/218620 ^@ NM_003070.4(SMARCA2):c.666_667insCAGCAG (p.Gln238_Pro239insGlnGln) http://identifiers.org/clinvar/218539 ^@ NM_001195249.1(APTX):c.484-3delT http://identifiers.org/clinvar/218819 ^@ NM_032634.3(PIGO):c.2198G>A (p.Arg733Gln) http://identifiers.org/clinvar/218781 ^@ NM_020944.2(GBA2):c.134G>C (p.Cys45Ser) http://identifiers.org/clinvar/218873 ^@ NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val) http://identifiers.org/clinvar/218563 ^@ NM_001256877.1(KANK1):c.2486G>A (p.Arg829His) http://identifiers.org/clinvar/218740 ^@ NM_017662.4(TRPM6):c.4988A>G (p.Gln1663Arg) http://identifiers.org/clinvar/218535 ^@ NM_001190482.1(PCSK5):c.555C>T (p.Tyr185=) http://identifiers.org/clinvar/218534 ^@ NM_001190482.1(PCSK5):c.4280C>T (p.Thr1427Ile) http://identifiers.org/clinvar/218427 ^@ NM_000136.2(FANCC):c.1162G>T (p.Gly388Ter) http://identifiers.org/clinvar/218875 ^@ NR_024532.1(ALG2):n.577G>A http://identifiers.org/clinvar/218825 ^@ NM_033163.3(FGF8):c.445-62G>A http://identifiers.org/clinvar/218698 ^@ NM_007373.3(SHOC2):c.806A>G (p.Gln269Arg) http://identifiers.org/clinvar/218704 ^@ NM_014241.3(HACD1):c.143C>T (p.Thr48Ile) http://identifiers.org/clinvar/218872 ^@ NM_201571.3(CACNB2):c.37-4_37-3insTTTTTTG http://identifiers.org/clinvar/218785 ^@ NM_020987.4(ANK3):c.5933A>G (p.Lys1978Arg) http://identifiers.org/clinvar/218453 ^@ NM_000399.4(EGR2):c.664A>G (p.Met222Val) http://identifiers.org/clinvar/218700 ^@ NM_012238.4(SIRT1):c.233A>G (p.Glu78Gly) http://identifiers.org/clinvar/218792 ^@ NM_022124.5(CDH23):c.793A>G (p.Lys265Glu) http://identifiers.org/clinvar/218653 ^@ NM_004747.3(DLG5):c.3200G>A (p.Arg1067His) http://identifiers.org/clinvar/218619 ^@ NM_003019.4(SFTPD):c.110T>A (p.Leu37Gln) http://identifiers.org/clinvar/218483 ^@ NM_001015880.1(PAPSS2):c.381+2_381+3insAAAA http://identifiers.org/clinvar/218632 ^@ NM_004398.3(DDX10):c.1334A>G (p.Glu445Gly) http://identifiers.org/clinvar/218581 ^@ NM_001276506.1(SDHD):c.118A>C (p.Ile40Leu) http://identifiers.org/clinvar/218654 ^@ NM_004788.3(UBE4A):c.2433+3delA http://identifiers.org/clinvar/218540 ^@ NM_001197104.1(KMT2A):c.2905C>G (p.Leu969Val) http://identifiers.org/clinvar/218541 ^@ NM_001197104.1(KMT2A):c.6329C>G (p.Ser2110Ter) http://identifiers.org/clinvar/218617 ^@ NM_002855.4(NECTIN1):c.1331_1333dupAGG (p.Glu444_Gly445insGlu) http://identifiers.org/clinvar/218669 ^@ NM_005238.3(ETS1):c.485A>G (p.Tyr162Cys) http://identifiers.org/clinvar/218799 ^@ NM_024514.4(CYP2R1):c.852G>A (p.Met284Ile) http://identifiers.org/clinvar/218585 ^@ NM_001277269.1(OTOG):c.7903G>A (p.Asp2635Asn) http://identifiers.org/clinvar/218586 ^@ NM_001277269.1(OTOG):c.8512C>T (p.Arg2838Cys) http://identifiers.org/clinvar/218659 ^@ NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile) http://identifiers.org/clinvar/218508 ^@ NM_001127598.2(IGF2):c.82G>A (p.Gly28Arg) http://identifiers.org/clinvar/218432 ^@ NM_000218.2(KCNQ1):c.1970A>G (p.Asn657Ser) http://identifiers.org/clinvar/218438 ^@ NM_000280.4(PAX6):c.-129+9G>A http://identifiers.org/clinvar/218538 ^@ NM_001193471.1(FOLH1):c.471C>T (p.Gly157=) http://identifiers.org/clinvar/218603 ^@ NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) http://identifiers.org/clinvar/218435 ^@ NM_000260.3(MYO7A):c.4667C>T (p.Pro1556Leu) http://identifiers.org/clinvar/218479 ^@ NM_001007027.2(ALG8):c.96-6G>C http://identifiers.org/clinvar/218672 ^@ NM_005418.3(ST5):c.935G>A (p.Arg312Gln) http://identifiers.org/clinvar/218833 ^@ NM_130466.3(UBE3B):c.447+5C>A http://identifiers.org/clinvar/218455 ^@ NM_000432.3(MYL2):c.353+6T>A http://identifiers.org/clinvar/218618 ^@ NM_002973.3(ATXN2):c.305G>C (p.Arg102Pro) http://identifiers.org/clinvar/218644 ^@ NM_004658.2(RASAL1):c.1804T>C (p.Phe602Leu) http://identifiers.org/clinvar/218680 ^@ NM_006231.3(POLE):c.16G>C (p.Gly6Arg) http://identifiers.org/clinvar/218471 ^@ NM_000834.3(GRIN2B):c.2430C>A (p.Ser810Arg) http://identifiers.org/clinvar/218806 ^@ NM_030653.3(DDX11):c.1242+4T>C http://identifiers.org/clinvar/218807 ^@ NM_030653.3(DDX11):c.1774C>G (p.Gln592Glu) http://identifiers.org/clinvar/218847 ^@ NM_152641.3(ARID2):c.1718C>T (p.Thr573Met) http://identifiers.org/clinvar/218673 ^@ NM_005430.3(WNT1):c.264T>A (p.Ser88Arg) http://identifiers.org/clinvar/218705 ^@ NM_014254.2(TMEM5):c.250A>G (p.Ser84Gly) http://identifiers.org/clinvar/218602 ^@ NM_002076.3(GNS):c.1012A>G (p.Ile338Val) http://identifiers.org/clinvar/218537 ^@ NM_001193460.1(MSRB3):c.530C>T (p.Pro177Leu) http://identifiers.org/clinvar/218835 ^@ NM_138425.3(C12orf57):c.229+3_229+21del19 http://identifiers.org/clinvar/218683 ^@ NM_006331.7(EMG1):c.101C>G (p.Ala34Gly) http://identifiers.org/clinvar/218516 ^@ NM_001145026.1(PTPRQ):c.202G>A (p.Gly68Arg) http://identifiers.org/clinvar/218645 ^@ NM_004664.3(LIN7A):c.274-4delT http://identifiers.org/clinvar/218533 ^@ NM_213655.4(WNK1):c.3867+7dupT http://identifiers.org/clinvar/218802 ^@ NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) http://identifiers.org/clinvar/218637 ^@ NM_004426.2(PHC1):c.1666C>T (p.Arg556Trp) http://identifiers.org/clinvar/218638 ^@ NM_004426.2(PHC1):c.1885C>A (p.His629Asn) http://identifiers.org/clinvar/218831 ^@ NM_080759.5(DACH1):c.220_222[1] (p.=) http://identifiers.org/clinvar/218707 ^@ NM_014363.5(SACS):c.2983G>T (p.Val995Phe) http://identifiers.org/clinvar/218738 ^@ NM_016529.5(ATP8A2):c.145G>T (p.Asp49Tyr) http://identifiers.org/clinvar/218739 ^@ NM_016529.5(ATP8A2):c.3075A>G (p.Lys1025=) http://identifiers.org/clinvar/218864 ^@ NM_194318.3(B3GLCT):c.917A>G (p.Glu306Gly) http://identifiers.org/clinvar/218859 ^@ NM_181503.2(EXOSC8):c.808A>T (p.Ile270Phe) http://identifiers.org/clinvar/218517 ^@ NM_001145079.1(COG6):c.668A>G (p.Tyr223Cys) http://identifiers.org/clinvar/218768 ^@ NM_020377.4(CYSLTR2):c.601A>G (p.Met201Val) http://identifiers.org/clinvar/218830 ^@ NM_080759.5(DACH1):c.1722+6C>T http://identifiers.org/clinvar/218592 ^@ NM_001519.3(BRF1):c.1693G>T (p.Ala565Ser) http://identifiers.org/clinvar/218610 ^@ NM_002471.3(MYH6):c.3285G>T (p.Lys1095Asn) http://identifiers.org/clinvar/218434 ^@ NM_000257.3(MYH7):c.4915G>A (p.Ala1639Thr) http://identifiers.org/clinvar/218692 ^@ NM_006871.3(RIPK3):c.953C>T (p.Pro318Leu) http://identifiers.org/clinvar/218693 ^@ NM_007077.4(AP4S1):c.435C>A (p.Asp145Glu) http://identifiers.org/clinvar/218694 ^@ NM_007077.4(AP4S1):c.436_437insAGC (p.Ser146delinsLysArg) http://identifiers.org/clinvar/218695 ^@ NM_007077.4(AP4S1):c.437G>T (p.Ser146Ile) http://identifiers.org/clinvar/218553 ^@ NM_001247989.1(MIA2):c.1371+2_1371+3delTA http://identifiers.org/clinvar/218780 ^@ NM_020937.3(FANCM):c.4799C>T (p.Thr1600Ile) http://identifiers.org/clinvar/218607 ^@ NM_002408.3(MGAT2):c.99G>T (p.Lys33Asn) http://identifiers.org/clinvar/218573 ^@ NM_001270520.1(DAAM1):c.2254T>C (p.Phe752Leu) http://identifiers.org/clinvar/218593 ^@ NM_001530.3(HIF1A):c.2035C>G (p.Gln679Glu) http://identifiers.org/clinvar/218676 ^@ NM_005956.3(MTHFD1):c.1493A>C (p.Lys498Thr) http://identifiers.org/clinvar/218536 ^@ NM_001193314.1(VIPAS39):c.235G>T (p.Gly79Cys) http://identifiers.org/clinvar/218440 ^@ NM_000369.2(TSHR):c.881+3A>G http://identifiers.org/clinvar/218660 ^@ NM_004993.5(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/218703 ^@ NM_014216.5(ITPK1):c.874G>A (p.Ala292Thr) http://identifiers.org/clinvar/218836 ^@ NM_138576.3(BCL11B):c.1901_1906dupGCGACG (p.Asp635_Asp636insGlyAsp) http://identifiers.org/clinvar/218839 ^@ NM_144599.4(NIPA1):c.41C>G (p.Ala14Gly) http://identifiers.org/clinvar/218798 ^@ NM_024490.3(ATP10A):c.2728G>A (p.Glu910Lys) http://identifiers.org/clinvar/218648 ^@ NM_004667.5(HERC2):c.7411T>C (p.Ser2471Pro) http://identifiers.org/clinvar/218647 ^@ NM_004667.5(HERC2):c.2747-3C>A http://identifiers.org/clinvar/218646 ^@ NM_004667.5(HERC2):c.2389A>G (p.Met797Val) http://identifiers.org/clinvar/218651 ^@ NM_004667.5(HERC2):c.905C>T (p.Thr302Met) http://identifiers.org/clinvar/218650 ^@ NM_004667.5(HERC2):c.821C>G (p.Ala274Gly) http://identifiers.org/clinvar/218649 ^@ NM_004667.5(HERC2):c.815C>T (p.Thr272Met) http://identifiers.org/clinvar/218665 ^@ NM_005135.2(SLC12A6):c.94C>T (p.Arg32Trp) http://identifiers.org/clinvar/218678 ^@ NM_006154.3(NEDD4):c.120-6delT http://identifiers.org/clinvar/218476 ^@ NM_000942.4(PPIB):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/218838 ^@ NM_139242.3(MTFMT):c.646-4G>T http://identifiers.org/clinvar/218801 ^@ NM_025055.4(CCDC33):c.1829C>T (p.Pro610Leu) http://identifiers.org/clinvar/218615 ^@ NM_002693.2(POLG):c.2510A>G (p.Tyr837Cys) http://identifiers.org/clinvar/218616 ^@ NM_002693.2(POLG):c.826G>A (p.Ala276Thr) http://identifiers.org/clinvar/218867 ^@ NM_198525.2(KIF7):c.1739C>T (p.Pro580Leu) http://identifiers.org/clinvar/218668 ^@ NM_005236.2(ERCC4):c.974-6T>C http://identifiers.org/clinvar/218497 ^@ NM_001040113.1(MYH11):c.5822A>G (p.Gln1941Arg) http://identifiers.org/clinvar/218496 ^@ NM_001040113.1(MYH11):c.5456_5461dupTCAAGT (p.Lys1820_Ser1821insPheLys) http://identifiers.org/clinvar/218495 ^@ NM_001040113.1(MYH11):c.5073C>G (p.Ser1691Arg) http://identifiers.org/clinvar/218494 ^@ NM_001040113.1(MYH11):c.294A>C (p.Glu98Asp) http://identifiers.org/clinvar/218840 ^@ NM_144672.3(OTOA):c.2353A>C (p.Thr785Pro) http://identifiers.org/clinvar/218841 ^@ NM_144672.3(OTOA):c.2359G>T (p.Glu787Ter) http://identifiers.org/clinvar/218600 ^@ NM_001919.3(ECI1):c.580G>A (p.Glu194Lys) http://identifiers.org/clinvar/218688 ^@ NM_006662.2(SRCAP):c.1559G>A (p.Ser520Asn) http://identifiers.org/clinvar/218689 ^@ NM_006662.2(SRCAP):c.3868A>G (p.Ser1290Gly) http://identifiers.org/clinvar/218817 ^@ NM_032444.2(SLX4):c.4964G>A (p.Arg1655Lys) http://identifiers.org/clinvar/218631 ^@ NM_004380.2(CREBBP):c.3370-4delT http://identifiers.org/clinvar/218510 ^@ NM_001127892.1(SALL1):c.3581A>G (p.Asn1194Ser) http://identifiers.org/clinvar/218509 ^@ NM_001127892.1(SALL1):c.1587G>C (p.Glu529Asp) http://identifiers.org/clinvar/218513 ^@ NM_001130089.1(KARS):c.307-6delT http://identifiers.org/clinvar/218760 ^@ NM_018723.3(RBFOX1):c.562-6A>G http://identifiers.org/clinvar/218734 ^@ NM_016373.3(WWOX):c.358C>T (p.Arg120Trp) http://identifiers.org/clinvar/218670 ^@ NM_005250.2(FOXL1):c.458A>C (p.Glu153Ala) http://identifiers.org/clinvar/218658 ^@ NM_004933.2(CDH15):c.2102C>A (p.Pro701His) http://identifiers.org/clinvar/218557 ^@ NM_001256182.1(ANKRD11):c.6323G>A (p.Gly2108Asp) http://identifiers.org/clinvar/218556 ^@ NM_001256182.1(ANKRD11):c.5609C>T (p.Ala1870Val) http://identifiers.org/clinvar/218555 ^@ NM_001256182.1(ANKRD11):c.3098G>T (p.Ser1033Ile) http://identifiers.org/clinvar/218505 ^@ NM_001080779.1(MYO1C):c.2574A>C (p.Lys858Asn) http://identifiers.org/clinvar/218504 ^@ NM_001080779.1(MYO1C):c.1483-6C>G http://identifiers.org/clinvar/218613 ^@ NM_002615.6(SERPINF1):c.242C>G (p.Ser81Cys) http://identifiers.org/clinvar/218730 ^@ NM_016239.3(MYO15A):c.2984_2991delAGCCGGGG (p.Glu995Alafs) http://identifiers.org/clinvar/218731 ^@ NM_016239.3(MYO15A):c.5978G>A (p.Arg1993Gln) http://identifiers.org/clinvar/218732 ^@ NM_016239.3(MYO15A):c.6403G>T (p.Val2135Leu) http://identifiers.org/clinvar/218844 ^@ NM_145109.2(MAP2K3):c.644T>G (p.Leu215Trp) http://identifiers.org/clinvar/218809 ^@ NM_030967.2(KRTAP1-1):c.209delG (p.Cys70Serfs) http://identifiers.org/clinvar/218789 ^@ NM_021939.3(FKBP10):c.44C>G (p.Pro15Arg) http://identifiers.org/clinvar/218699 ^@ NM_012232.5(CAVIN1):c.1000G>A (p.Glu334Lys) http://identifiers.org/clinvar/218761 ^@ NM_018952.4(HOXB6):c.436G>A (p.Gly146Ser) http://identifiers.org/clinvar/218762 ^@ NM_018952.4(HOXB6):c.91G>A (p.Gly31Ser) http://identifiers.org/clinvar/218424 ^@ NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) http://identifiers.org/clinvar/218743 ^@ NM_017777.3(MKS1):c.811C>A (p.His271Asn) http://identifiers.org/clinvar/218664 ^@ NM_005121.2(MED13):c.4948G>A (p.Glu1650Lys) http://identifiers.org/clinvar/218696 ^@ NM_007215.3(POLG2):c.1268C>A (p.Ser423Tyr) http://identifiers.org/clinvar/218759 ^@ NM_018714.2(COG1):c.1117G>A (p.Val373Met) http://identifiers.org/clinvar/218546 ^@ NM_001206987.2(METTL23):c.205A>G (p.Ser69Gly) http://identifiers.org/clinvar/218502 ^@ NM_001080424.2(KDM6B):c.786_791delACCACC (p.Pro263_Pro264del) http://identifiers.org/clinvar/218500 ^@ NM_001080424.2(KDM6B):c.1297T>C (p.Ser433Pro) http://identifiers.org/clinvar/218501 ^@ NM_001080424.2(KDM6B):c.2280_2285delCACCAC (p.Thr761_Thr762del) http://identifiers.org/clinvar/218549 ^@ NM_001243342.1(CCDC40):c.2927A>G (p.Gln976Arg) http://identifiers.org/clinvar/218550 ^@ NM_001243342.1(CCDC40):c.3040_3041insCAC (p.Thr1013_Arg1014insThr) http://identifiers.org/clinvar/218790 ^@ NM_022068.3(PIEZO2):c.6148G>A (p.Ala2050Thr) http://identifiers.org/clinvar/218797 ^@ NM_024422.4(DSC2):c.2664G>T (p.Glu888Asp) http://identifiers.org/clinvar/218601 ^@ NM_001943.4(DSG2):c.445G>A (p.Val149Ile) http://identifiers.org/clinvar/218804 ^@ NM_030632.2(ASXL3):c.5999A>T (p.Asp2000Val) http://identifiers.org/clinvar/218805 ^@ NM_030632.2(ASXL3):c.6200T>G (p.Leu2067Arg) http://identifiers.org/clinvar/218782 ^@ NM_020964.2(EPG5):c.4072G>A (p.Glu1358Lys) http://identifiers.org/clinvar/218566 ^@ NM_001257335.1(ATP5A1):c.228G>T (p.Lys76Asn) http://identifiers.org/clinvar/218503 ^@ NM_001080467.2(MYO5B):c.1031G>A (p.Arg344His) http://identifiers.org/clinvar/218857 ^@ NM_176787.4(PIGN):c.2620-5delT http://identifiers.org/clinvar/218858 ^@ NM_176787.4(PIGN):c.364G>C (p.Glu122Gln) http://identifiers.org/clinvar/218458 ^@ NM_000527.4(LDLR):c.982G>A (p.Val328Ile) http://identifiers.org/clinvar/218459 ^@ NM_000528.3(MAN2B1):c.2006C>T (p.Pro669Leu) http://identifiers.org/clinvar/218512 ^@ NM_001130065.1(MYO9B):c.1487G>A (p.Arg496Gln) http://identifiers.org/clinvar/218492 ^@ NM_001039876.2(SYNE4):c.106G>A (p.Ala36Thr) http://identifiers.org/clinvar/218506 ^@ NM_001083961.1(WDR62):c.109G>C (p.Ala37Pro) http://identifiers.org/clinvar/218467 ^@ NM_000540.2(RYR1):c.725+6G>A http://identifiers.org/clinvar/218464 ^@ NM_000540.2(RYR1):c.10730G>A (p.Arg3577Gln) http://identifiers.org/clinvar/218465 ^@ NM_000540.2(RYR1):c.11061_11063delGGA (p.Glu3689del) http://identifiers.org/clinvar/218466 ^@ NM_000540.2(RYR1):c.13691G>A (p.Arg4564Gln) http://identifiers.org/clinvar/218800 ^@ NM_024907.6(FBXO17):c.644C>A (p.Ser215Ter) http://identifiers.org/clinvar/218783 ^@ NM_020971.2(SPTBN4):c.2709G>A (p.Trp903Ter) http://identifiers.org/clinvar/218558 ^@ NM_001256214.1(ATP1A3):c.1006C>T (p.Pro336Ser) http://identifiers.org/clinvar/218579 ^@ NM_001271938.1(MEGF8):c.7774G>A (p.Val2592Met) http://identifiers.org/clinvar/218490 ^@ NM_001039213.3(CEACAM16):c.878G>A (p.Cys293Tyr) http://identifiers.org/clinvar/218856 ^@ NM_175875.4(SIX5):c.617A>G (p.Tyr206Cys) http://identifiers.org/clinvar/218562 ^@ NM_001256849.1(POLD1):c.2007-4G>A http://identifiers.org/clinvar/218560 ^@ NM_001256716.1(DNAAF3):c.887-3C>T http://identifiers.org/clinvar/218559 ^@ NM_001256716.1(DNAAF3):c.627+5G>C http://identifiers.org/clinvar/218724 ^@ NM_015719.3(COL5A3):c.2060A>G (p.His687Arg) http://identifiers.org/clinvar/218829 ^@ NM_080676.5(MACROD2):c.805G>A (p.Val269Met) http://identifiers.org/clinvar/218547 ^@ NM_001242581.1(RIN2):c.2648A>T (p.Tyr883Phe) http://identifiers.org/clinvar/218522 ^@ NM_001161766.1(AHCY):c.26A>T (p.Glu9Val) http://identifiers.org/clinvar/218468 ^@ NM_000687.3(AHCY):c.-34C>T http://identifiers.org/clinvar/218564 ^@ NM_001257137.2(ITCH):c.476A>T (p.Asn159Ile) http://identifiers.org/clinvar/218594 ^@ NM_001725.2(BPI):c.945+6G>A http://identifiers.org/clinvar/218816 ^@ NM_032221.4(CHD6):c.7165C>T (p.Arg2389Cys) http://identifiers.org/clinvar/218834 ^@ NM_133170.3(PTPRT):c.1032C>A (p.Asn344Lys) http://identifiers.org/clinvar/218769 ^@ NM_020433.4(JPH2):c.511_516dupAGCAAC (p.Asn172_Gly173insSerAsn) http://identifiers.org/clinvar/218727 ^@ NM_015937.5(PIGT):c.770A>C (p.Asp257Ala) http://identifiers.org/clinvar/218578 ^@ NM_000311.4(PRNP):c.228C>T (p.Pro76=) http://identifiers.org/clinvar/218770 ^@ NM_020436.4(SALL4):c.1253G>A (p.Arg418His) http://identifiers.org/clinvar/218725 ^@ NM_015833.3(ADARB1):c.1702A>G (p.Ile568Val) http://identifiers.org/clinvar/218803 ^@ NM_030582.3(COL18A1):c.517G>A (p.Gly173Ser) http://identifiers.org/clinvar/218827 ^@ NM_058004.3(PI4KA):c.5137G>C (p.Asp1713His) http://identifiers.org/clinvar/218690 ^@ NM_006767.3(LZTR1):c.646_651+31del37 http://identifiers.org/clinvar/218629 ^@ NM_004327.3(BCR):c.2845G>A (p.Val949Ile) http://identifiers.org/clinvar/218489 ^@ NM_001039141.2(TRIOBP):c.1591G>A (p.Ala531Thr) http://identifiers.org/clinvar/218419 ^@ NM_000026.3(ADSL):c.899G>A (p.Arg300His) http://identifiers.org/clinvar/218590 ^@ NM_001429.3(EP300):c.952C>G (p.Pro318Ala) http://identifiers.org/clinvar/218436 ^@ NM_000262.2(NAGA):c.1132A>G (p.Ser378Gly) http://identifiers.org/clinvar/218437 ^@ NM_000262.2(NAGA):c.358G>A (p.Ala120Thr) http://identifiers.org/clinvar/218611 ^@ NM_002490.4(NDUFA6):c.400C>T (p.His134Tyr) http://identifiers.org/clinvar/218773 ^@ NM_020461.3(TUBGCP6):c.5327C>G (p.Ser1776Cys) http://identifiers.org/clinvar/218772 ^@ NM_020461.3(TUBGCP6):c.3383G>A (p.Arg1128Lys) http://identifiers.org/clinvar/218771 ^@ NM_020461.3(TUBGCP6):c.1441G>A (p.Ala481Thr) http://identifiers.org/clinvar/218667 ^@ NM_005198.4(CHKB):c.217C>T (p.Pro73Ser) http://identifiers.org/clinvar/218430 ^@ NM_000169.2(GLA):c.-30G>A http://identifiers.org/clinvar/218565 ^@ NM_001257231.1(ALG13):c.2200A>G (p.Thr734Ala) http://identifiers.org/clinvar/218519 ^@ NM_001152.4(SLC25A5):c.877G>T (p.Glu293Ter) http://identifiers.org/clinvar/218520 ^@ NM_001152.4(SLC25A5):c.888G>C (p.Lys296Asn) http://identifiers.org/clinvar/218521 ^@ NM_001152.4(SLC25A5):c.893C>T (p.Thr298Ile) http://identifiers.org/clinvar/218561 ^@ NM_001256743.1(GRIA3):c.380dupG (p.Gly128Trpfs) http://identifiers.org/clinvar/218527 ^@ NM_001164617.1(GPC3):c.338-5delT http://identifiers.org/clinvar/218614 ^@ NM_002641.3(PIGA):c.79A>G (p.Thr27Ala) http://identifiers.org/clinvar/218675 ^@ NM_005629.3(SLC6A8):c.1649C>G (p.Thr550Ser) http://identifiers.org/clinvar/218420 ^@ NM_000033.3(ABCD1):c.1744G>A (p.Val582Ile) http://identifiers.org/clinvar/218421 ^@ NM_000033.3(ABCD1):c.1748T>A (p.Val583Glu) http://identifiers.org/clinvar/218422 ^@ NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) http://identifiers.org/clinvar/218423 ^@ NM_000033.3(ABCD1):c.1823G>A (p.Gly608Asp) http://identifiers.org/clinvar/218685 ^@ NM_006579.2(EBP):c.13G>A (p.Ala5Thr) http://identifiers.org/clinvar/218810 ^@ NM_031407.6(HUWE1):c.4637G>C (p.Trp1546Ser) http://identifiers.org/clinvar/218811 ^@ NM_031407.6(HUWE1):c.816G>C (p.Lys272Asn) http://identifiers.org/clinvar/218737 ^@ NM_016379.3(VCX3A):c.461T>C (p.Leu154Pro) http://identifiers.org/clinvar/218736 ^@ NM_016379.3(VCX3A):c.418G>A (p.Val140Met) http://identifiers.org/clinvar/218735 ^@ NM_016379.3(VCX3A):c.385C>G (p.Gln129Glu) http://identifiers.org/clinvar/218609 ^@ NM_002457.4(MUC2):c.4679C>T (p.Thr1560Ile) http://identifiers.org/clinvar/218748 ^@ NM_017940.4(NBPF1):c.1905-6C>A http://identifiers.org/clinvar/218749 ^@ NM_017940.4(NBPF1):c.2666+2T>C http://identifiers.org/clinvar/218750 ^@ NM_017940.4(NBPF1):c.3118C>T http://identifiers.org/clinvar/218878 ^@ NM_002336.2(LRP6):c.1779dupT (p.Glu594Terfs) http://identifiers.org/clinvar/218879 ^@ NM_002336.2(LRP6):c.56C>T (p.Ala19Val) http://identifiers.org/clinvar/218880 ^@ NM_002336.2(LRP6):c.2224_2225dupTT (p.Leu742Phefs) http://identifiers.org/clinvar/218881 ^@ NR_029621.1(MIR204):n.37C>T http://identifiers.org/clinvar/218882 ^@ NM_001320327.1(CHCHD2):c.182C>T (p.Thr61Ile) http://identifiers.org/clinvar/218883 ^@ NM_001320327.1(CHCHD2):c.434G>A (p.Arg145Gln) http://identifiers.org/clinvar/218884 ^@ NM_001320327.1(CHCHD2):c.300+5G>A http://identifiers.org/clinvar/218885 ^@ NM_133368.2(RSPRY1):c.1279dupA (p.Thr427Asnfs) http://identifiers.org/clinvar/218886 ^@ NM_133368.2(RSPRY1):c.121G>T (p.Gly41Cys) http://identifiers.org/clinvar/218887 ^@ NM_000899.4(KITLG):c.286_303del18insT (p.Ser96Terfs) http://identifiers.org/clinvar/218888 ^@ NM_000899.4(KITLG):c.200_202delATT (p.His67_Cys68delinsArg) http://identifiers.org/clinvar/218889 ^@ NM_000899.4(KITLG):c.310C>G (p.Leu104Val) http://identifiers.org/clinvar/218890 ^@ NM_004092.3(ECHS1):c.176A>G (p.Asn59Ser) http://identifiers.org/clinvar/218891 ^@ NM_004092.3(ECHS1):c.413C>T (p.Ala138Val) http://identifiers.org/clinvar/218892 ^@ NM_014055.3(IFT81):c.1188+1G>A http://identifiers.org/clinvar/218893 ^@ NM_014055.3(IFT81):c.2015_2019delACCGG (p.Asp672Alafs) http://identifiers.org/clinvar/242448 ^@ NM_000401.3(EXT2):c.382C>T (p.Arg128Cys) http://identifiers.org/clinvar/218895 ^@ NM_022154.5(SLC39A8):c.112G>C (p.Gly38Arg) http://identifiers.org/clinvar/218896 ^@ NM_022154.5(SLC39A8):c.1019T>A (p.Ile340Asn) http://identifiers.org/clinvar/218897 ^@ NM_022154.5(SLC39A8):c.610G>T (p.Gly204Cys) http://identifiers.org/clinvar/242447 ^@ NM_022154.5(SLC39A8):c.1004G>C (p.Ser335Thr) http://identifiers.org/clinvar/242446 ^@ NM_022154.5(SLC39A8):c.97G>A (p.Val33Met) http://identifiers.org/clinvar/218899 ^@ NM_019026.4(TMCO1):c.476+3G>C http://identifiers.org/clinvar/218901 ^@ NM_001012415.2(SOHLH1):c.705delT (p.Lys236Argfs) http://identifiers.org/clinvar/218902 ^@ NM_001012415.2(SOHLH1):c.27C>G (p.Tyr9Ter) http://identifiers.org/clinvar/218903 ^@ NM_007075.3(WDR45):c.161_163delTGG (p.Val54del) http://identifiers.org/clinvar/218904 ^@ NM_003569.2(STX7):c.159A>C (p.Gln53His) http://identifiers.org/clinvar/218905 ^@ NM_001130103.1(COL13A1):c.1173delG (p.Leu392Serfs) http://identifiers.org/clinvar/218906 ^@ NM_001130103.1(COL13A1):c.523-1delG http://identifiers.org/clinvar/218907 ^@ NM_020680.3(SCYL1):c.937delG (p.Val313Cysfs) http://identifiers.org/clinvar/218908 ^@ NM_020680.3(SCYL1):c.1509_1510delTG (p.Ala504Profs) http://identifiers.org/clinvar/218909 ^@ NM_020680.3(SCYL1):c.1230+1G>A http://identifiers.org/clinvar/218910 ^@ NM_020680.3(SCYL1):c.1636C>T (p.Gln546Ter) http://identifiers.org/clinvar/218911 ^@ NM_001009999.2(KDM1A):c.2353T>C (p.Tyr785His) http://identifiers.org/clinvar/218912 ^@ NM_001009999.2(KDM1A):c.1207G>A (p.Glu403Lys) http://identifiers.org/clinvar/218913 ^@ NM_001009999.2(KDM1A):c.1739A>G (p.Asp580Gly) http://identifiers.org/clinvar/218914 ^@ NM_001001957.2(OR2W3):c.424C>T (p.Arg142Trp) http://identifiers.org/clinvar/218918 ^@ NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/218919 ^@ NC_000008.10:g.134265065_134271319dup6255 http://identifiers.org/clinvar/218920 ^@ NM_001190716.1(DNM2):c.1021G>A (p.Glu341Lys) http://identifiers.org/clinvar/218921 ^@ NM_000554.5(CRX):c.449C>G (p.Ser150Ter) http://identifiers.org/clinvar/218922 ^@ NM_000554.5(CRX):c.657delC (p.Tyr221Thrfs) http://identifiers.org/clinvar/218923 ^@ NM_000554.5(CRX):c.661delT (p.Tyr221Thrfs) http://identifiers.org/clinvar/218924 ^@ NM_003384.2(VRK1):c.706G>A (p.Val236Met) http://identifiers.org/clinvar/218925 ^@ NM_178014.3(TUBB):c.43C>A (p.Gln15Lys) http://identifiers.org/clinvar/218926 ^@ NM_178014.3(TUBB):c.665A>T (p.Tyr222Phe) http://identifiers.org/clinvar/218927 ^@ NM_001143826.2(MAPRE2):c.131A>G (p.Tyr44Cys) http://identifiers.org/clinvar/218928 ^@ NM_001143826.2(MAPRE2):c.325C>T (p.Gln109Ter) http://identifiers.org/clinvar/218929 ^@ NM_001143826.2(MAPRE2):c.74A>G (p.Asn25Ser) http://identifiers.org/clinvar/218930 ^@ NM_001143826.2(MAPRE2):c.298C>T (p.Arg100Cys) http://identifiers.org/clinvar/218931 ^@ NM_018960.5(GNMT):c.422A>G (p.Asn141Ser) http://identifiers.org/clinvar/218932 ^@ NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His) http://identifiers.org/clinvar/218933 ^@ NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter) http://identifiers.org/clinvar/218934 ^@ t(12;19)(q24.21;q12) http://identifiers.org/clinvar/218935 ^@ NM_002609.3(PDGFRB):c.1998C>A (p.Asn666Lys) http://identifiers.org/clinvar/218936 ^@ NC_000005.9:g.92845157_93679748del834592 http://identifiers.org/clinvar/218937 ^@ NC_000005.9:g.91064110_93896378del2832269 http://identifiers.org/clinvar/218940 ^@ NM_181457.3(PAX3):c.944C>A (p.Thr315Lys) http://identifiers.org/clinvar/218939 ^@ NM_144966.5(FREM1):c.1394G>C (p.Gly465Ala) http://identifiers.org/clinvar/218938 ^@ NM_000138.4(FBN1):c.4970_4971insA (p.Cys1658Leufs) http://identifiers.org/clinvar/218941 ^@ NM_001098398.1(COPA):c.690G>T (p.Lys230Asn) http://identifiers.org/clinvar/218943 ^@ NM_005397.3(PODXL):c.1285C>A (p.Pro429Thr) http://identifiers.org/clinvar/218944 ^@ NM_005397.3(PODXL):c.1118G>A (p.Ser373Asn) http://identifiers.org/clinvar/218945 ^@ NM_005397.3(PODXL):c.881G>A (p.Arg294Gln) http://identifiers.org/clinvar/218942 ^@ NM_005397.3(PODXL):c.89_90insGTCGCCCC (p.Gln32Profs) http://identifiers.org/clinvar/218946 ^@ NM_000392.4(ABCC2):c.1013_1014delTG (p.Val338Glufs) http://identifiers.org/clinvar/218947 ^@ NM_020436.4(SALL4):c.410dupG (p.Gly138Argfs) http://identifiers.org/clinvar/218948 ^@ NM_015202.3(KIAA0556):c.2674C>T (p.Gln892Ter) http://identifiers.org/clinvar/218949 ^@ NM_001383.4(DPH1):c.17T>A (p.Met6Lys) http://identifiers.org/clinvar/218950 ^@ NM_001039802.1(CDC42):c.191A>G (p.Tyr64Cys) http://identifiers.org/clinvar/218951 ^@ NM_004991.3(MECOM):c.2830A>G (p.Thr944Ala) http://identifiers.org/clinvar/218952 ^@ NM_004991.3(MECOM):c.2816A>G (p.His939Arg) http://identifiers.org/clinvar/218953 ^@ NM_004991.3(MECOM):c.2812C>T (p.Arg938Trp) http://identifiers.org/clinvar/218955 ^@ NM_018313.4(PBRM1):c.3923_3930delATAGTGAG (p.Asp1308Valfs) http://identifiers.org/clinvar/218956 ^@ NM_006494.3(ERF):c.23_257del235 http://identifiers.org/clinvar/218957 ^@ NM_006494.3(ERF):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/218963 ^@ NM_032357.3(CCDC115):c.31G>T (p.Asp11Tyr) http://identifiers.org/clinvar/218964 ^@ NM_152464.2(TMEM199):c.92G>C (p.Arg31Pro) http://identifiers.org/clinvar/218965 ^@ NM_152464.2(TMEM199):c.20C>A (p.Ala7Glu) http://identifiers.org/clinvar/218967 ^@ NM_032357.3(CCDC115):c.92T>C (p.Leu31Ser) http://identifiers.org/clinvar/218968 ^@ t(5;16)(p15.31;q23.1) http://identifiers.org/clinvar/219002 ^@ NM_015702.2(MMADHC):c.455dupC (p.Cys153Metfs) http://identifiers.org/clinvar/219000 ^@ NM_015702.2(MMADHC):c.228dupG (p.Asn77Glufs) http://identifiers.org/clinvar/218999 ^@ NM_015702.2(MMADHC):c.133dupG (p.Ala45Glyfs) http://identifiers.org/clinvar/219001 ^@ NM_015702.2(MMADHC):c.60_61insAT (p.Leu21Ilefs) http://identifiers.org/clinvar/218969 ^@ NM_172250.2(MMAA):c.64C>T (p.Arg22Ter) http://identifiers.org/clinvar/218970 ^@ NM_172250.2(MMAA):c.161G>A (p.Trp54Ter) http://identifiers.org/clinvar/218971 ^@ NM_172250.2(MMAA):c.266T>C (p.Leu89Pro) http://identifiers.org/clinvar/218972 ^@ NM_172250.2(MMAA):c.358C>T (p.Gln120Ter) http://identifiers.org/clinvar/218973 ^@ NM_172250.2(MMAA):c.397C>T (p.Gln133Ter) http://identifiers.org/clinvar/218974 ^@ NM_172250.2(MMAA):c.503delC (p.Thr168Metfs) http://identifiers.org/clinvar/218975 ^@ NM_172250.2(MMAA):c.562G>C (p.Gly188Arg) http://identifiers.org/clinvar/218976 ^@ NM_172250.2(MMAA):c.650T>A (p.Leu217Ter) http://identifiers.org/clinvar/218977 ^@ NM_172250.2(MMAA):c.653G>A (p.Gly218Glu) http://identifiers.org/clinvar/218978 ^@ NM_172250.2(MMAA):c.733+1G>A http://identifiers.org/clinvar/218979 ^@ NM_172250.2(MMAA):c.1076G>A (p.Arg359Gln) http://identifiers.org/clinvar/218998 ^@ NM_000255.3(MUT):c.2179C>T (p.Arg727Ter) http://identifiers.org/clinvar/218997 ^@ NM_000255.3(MUT):c.2099T>A (p.Met700Lys) http://identifiers.org/clinvar/218996 ^@ NM_000255.3(MUT):c.2080C>T (p.Arg694Trp) http://identifiers.org/clinvar/218995 ^@ NM_000255.3(MUT):c.2054T>G (p.Leu685Arg) http://identifiers.org/clinvar/218983 ^@ NM_000255.3(MUT):c.2011A= (p.Ile671=) http://identifiers.org/clinvar/218982 ^@ NM_000255.3(MUT):c.1595G= (p.Arg532=) http://identifiers.org/clinvar/218994 ^@ NM_000255.3(MUT):c.1553T>C (p.Leu518Pro) http://identifiers.org/clinvar/218990 ^@ NM_000255.3(MUT):c.1280G>A (p.Gly427Asp) http://identifiers.org/clinvar/218989 ^@ NM_000255.3(MUT):c.1105C>T (p.Arg369Cys) http://identifiers.org/clinvar/218993 ^@ NM_000255.3(MUT):c.1097A>G (p.Asn366Ser) http://identifiers.org/clinvar/218988 ^@ NM_000255.3(MUT):c.935G>T (p.Gly312Val) http://identifiers.org/clinvar/218992 ^@ NM_000255.3(MUT):c.691T>A (p.Tyr231Asn) http://identifiers.org/clinvar/218981 ^@ NM_000255.3(MUT):c.636G= (p.Lys212=) http://identifiers.org/clinvar/218987 ^@ NM_000255.3(MUT):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/218986 ^@ NM_000255.3(MUT):c.521T>C (p.Phe174Ser) http://identifiers.org/clinvar/218991 ^@ NM_000255.3(MUT):c.299A>G (p.Tyr100Cys) http://identifiers.org/clinvar/218985 ^@ NM_000255.3(MUT):c.284C>G (p.Pro95Arg) http://identifiers.org/clinvar/218984 ^@ NM_000255.3(MUT):c.19C>T (p.Gln7Ter) http://identifiers.org/clinvar/219007 ^@ NM_052845.3(MMAB):c.656A>G (p.Tyr219Cys) http://identifiers.org/clinvar/219006 ^@ NM_052845.3(MMAB):c.572G>A (p.Arg191Gln) http://identifiers.org/clinvar/219005 ^@ NM_052845.3(MMAB):c.403G>A (p.Ala135Thr) http://identifiers.org/clinvar/219004 ^@ NM_052845.3(MMAB):c.291-1G>A http://identifiers.org/clinvar/219008 ^@ NM_052845.3(MMAB):c.197-1G>T http://identifiers.org/clinvar/219003 ^@ NM_052845.3(MMAB):c.56_57delGCinsAA (p.Arg19Gln) http://identifiers.org/clinvar/219012 ^@ NM_004385.4(VCAN):c.4004-6T>A http://identifiers.org/clinvar/219011 ^@ NM_004385.4(VCAN):c.4004-1G>T http://identifiers.org/clinvar/219010 ^@ NM_004385.4(VCAN):c.9265+1G>T http://identifiers.org/clinvar/219015 ^@ NC_000019.9:g.(?_823554)_(1206859_?)dup http://identifiers.org/clinvar/219016 ^@ NC_000022.10:g.(?_23891773)_(24991691_?)dup http://identifiers.org/clinvar/219017 ^@ NC_000022.10:g.(?_22320654)_(22566334_?)del http://identifiers.org/clinvar/219018 ^@ NC_000023.10:g.(?_6477550)_(8119329_?)dup http://identifiers.org/clinvar/219019 ^@ NC_000003.11:g.(?_2214694)_(2812860_?)del http://identifiers.org/clinvar/219020 ^@ NC_000004.11:g.(?_44020)_(19796182_?)del http://identifiers.org/clinvar/219021 ^@ NC_000016.9:g.(?_102839)_(28327676_?)dup http://identifiers.org/clinvar/219022 ^@ NC_000017.10:g.(?_48858)_(920692_?)del http://identifiers.org/clinvar/219023 ^@ NC_000023.10:g.(?_131885089)_(132500236_?)dup http://identifiers.org/clinvar/219024 ^@ NC_000011.9:g.(?_47310499)_(47351543_?)dup http://identifiers.org/clinvar/219025 ^@ NC_000023.10:g.(?_148764419)_(149015493_?)dup http://identifiers.org/clinvar/219026 ^@ NC_000008.10:g.(?_20478546)_(28986438_?)dup http://identifiers.org/clinvar/219027 ^@ NC_000002.11:g.(?_77354773)_(78176219_?)dup http://identifiers.org/clinvar/219028 ^@ NC_000006.11:g.(?_162780748)_(163001030_?)del http://identifiers.org/clinvar/219029 ^@ NC_000004.11:g.(?_188424331)_(189928653_?)dup http://identifiers.org/clinvar/219030 ^@ NC_000009.11:g.(?_19354041)_(19548029_?)dup http://identifiers.org/clinvar/219031 ^@ NC_000006.11:g.(?_162519220)_(162710973_?)del http://identifiers.org/clinvar/219032 ^@ NC_000023.10:g.(?_48310313)_(52614698_?)del http://identifiers.org/clinvar/219033 ^@ NC_000011.9:g.(?_64485197)_(64691737_?)dup http://identifiers.org/clinvar/219034 ^@ NC_000008.10:g.(?_15249009)_(16017680_?)del http://identifiers.org/clinvar/219035 ^@ NC_000010.10:g.(?_123731209)_(135353867_?)del http://identifiers.org/clinvar/219036 ^@ NC_000006.11:g.(?_10490144)_(10724301_?)del http://identifiers.org/clinvar/219037 ^@ NC_000008.10:g.(?_145600952)_(145834119_?)dup http://identifiers.org/clinvar/219038 ^@ NC_000016.9:g.(?_83553094)_(86098013_?)del http://identifiers.org/clinvar/219039 ^@ NC_000003.11:g.(?_197127599)_(197771083_?)dup http://identifiers.org/clinvar/219040 ^@ NC_000008.10:g.(?_8127723)_(11858461_?)del http://identifiers.org/clinvar/219041 ^@ NC_000023.10:g.(?_6118522)_(6405679_?)dup http://identifiers.org/clinvar/219042 ^@ NC_000023.10:g.(?_6776818)_(7119738_?)dup http://identifiers.org/clinvar/219043 ^@ NC_000021.8:g.(?_43749126)_(43904643_?)del http://identifiers.org/clinvar/219044 ^@ NC_000002.11:g.(?_111398336)_(113101220_?)del http://identifiers.org/clinvar/219045 ^@ NC_000003.11:g.(?_2291018)_(2781213_?)dup http://identifiers.org/clinvar/219046 ^@ NC_000023.10:g.(?_7449660)_(8150511_?)dup http://identifiers.org/clinvar/219047 ^@ NC_000020.10:g.(?_16730002)_(17286002_?)dup http://identifiers.org/clinvar/219048 ^@ NC_000002.11:g.32373679_32384445del10767 http://identifiers.org/clinvar/219049 ^@ NC_000002.11:g.32372792_32389594del16803 http://identifiers.org/clinvar/219050 ^@ NC_000002.11:g.32378898_32384398del5501 http://identifiers.org/clinvar/219051 ^@ NC_000002.11:g.32374427_32388831del14405 http://identifiers.org/clinvar/219052 ^@ NC_000002.11:g.32378643_32403264del24622 http://identifiers.org/clinvar/219053 ^@ NC_000002.11:g.32378559_32381280del2722 http://identifiers.org/clinvar/219054 ^@ NC_000002.11:g.32378673_32397052del18380 http://identifiers.org/clinvar/219055 ^@ NC_000002.11:g.32372815_32398557del25743 http://identifiers.org/clinvar/219056 ^@ NC_000002.11:g.32365580_32371821dup6242 http://identifiers.org/clinvar/219057 ^@ NC_000002.11:g.32327163_32886455del559293 http://identifiers.org/clinvar/219058 ^@ NC_000002.11:g.32260443_32347688del87246 http://identifiers.org/clinvar/219059 ^@ NC_000002.11:g.32329723_32373142del43420 http://identifiers.org/clinvar/219060 ^@ NC_000002.11:g.32362824_32817794del454971 http://identifiers.org/clinvar/219061 ^@ NC_000002.11:g.32313171_32408919del95749 http://identifiers.org/clinvar/219062 ^@ NC_000002.11:g.32342697_32403350del60654 http://identifiers.org/clinvar/219063 ^@ NC_000002.11:g.32282852_32295403del12552 http://identifiers.org/clinvar/219064 ^@ NC_000002.11:g.32302047_32472162del170116 http://identifiers.org/clinvar/219065 ^@ NC_000002.11:g.32356943_32372914del15972 http://identifiers.org/clinvar/219066 ^@ NC_000002.11:g.32302137_32351058del48922 http://identifiers.org/clinvar/219067 ^@ NC_000002.11:g.32340402_32345422del5021 http://identifiers.org/clinvar/219068 ^@ NC_000002.11:g.32371908_32373867del1960 http://identifiers.org/clinvar/219069 ^@ NC_000002.11:g.32353207_32359908dup6702 http://identifiers.org/clinvar/219070 ^@ NC_000002.11:g.32291779_32357195del65417 http://identifiers.org/clinvar/219071 ^@ NC_000002.11:g.32282760_32303254del20495 http://identifiers.org/clinvar/219072 ^@ NC_000002.11:g.32332674_32340934del8261 http://identifiers.org/clinvar/219073 ^@ NC_000002.11:g.32376112_32381206del5095 http://identifiers.org/clinvar/219074 ^@ NC_000002.11:g.32288217_32292251del4035 http://identifiers.org/clinvar/219075 ^@ NC_000002.11:g.32308157_32341651del33495 http://identifiers.org/clinvar/219076 ^@ NC_000002.11:g.32274911_32291246del16336 http://identifiers.org/clinvar/219077 ^@ NC_000002.11:g.32347622_32392375del44754 http://identifiers.org/clinvar/219078 ^@ NC_000002.11:g.32370423_32402099del31677 http://identifiers.org/clinvar/219079 ^@ NC_000002.11:g.32291802_32364656del72855 http://identifiers.org/clinvar/219080 ^@ NC_000002.11:g.32338430_32340293del1864 http://identifiers.org/clinvar/219081 ^@ NC_000002.11:g.32352108_32379647del27540 http://identifiers.org/clinvar/219082 ^@ NC_000002.11:g.32360319_32381228del20910 http://identifiers.org/clinvar/219083 ^@ NC_000002.11:g.32372832_32390406del17575 http://identifiers.org/clinvar/219084 ^@ NG_008730.1:g.(81616_82892)_(88338_90767)del http://identifiers.org/clinvar/219085 ^@ NC_000002.11:g.32372803_32396866del24064 http://identifiers.org/clinvar/219086 ^@ NC_000002.11:g.32288708_32305196del16489 http://identifiers.org/clinvar/219087 ^@ NC_000002.11:g.32348594_33632523del1283930 http://identifiers.org/clinvar/219088 ^@ NC_000002.11:g.32350954_32360289del9336 http://identifiers.org/clinvar/219089 ^@ NC_000002.12:g.(32083472_32084485)_(32142333_32142854)del http://identifiers.org/clinvar/219090 ^@ NC_000002.11:g.32338733_32350391del11659 http://identifiers.org/clinvar/219091 ^@ NC_000002.11:g.32339714_32347794del8081 http://identifiers.org/clinvar/219092 ^@ NC_000002.11:g.32351059_32359958del8900 http://identifiers.org/clinvar/219093 ^@ NC_000002.11:g.32321557_32422090del100534 http://identifiers.org/clinvar/219094 ^@ NC_000002.11:g.32358735_32362780dup4046 http://identifiers.org/clinvar/219095 ^@ NC_000002.11:g.32263919_32333722del69804 http://identifiers.org/clinvar/219097 ^@ NM_002524.4(NRAS):c.35G>C (p.Gly12Ala) http://identifiers.org/clinvar/219098 ^@ NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) http://identifiers.org/clinvar/219096 ^@ NM_004119.2(FLT3):c.1773_1793dup21 (p.Tyr597_Glu598insAspValAspPheArgGluTyr) http://identifiers.org/clinvar/219099 ^@ NM_015047.2(EMC1):c.2619_2622delTCCT (p.Pro874Argfs) http://identifiers.org/clinvar/219101 ^@ NM_015047.2(EMC1):c.2602G>A (p.Gly868Arg) http://identifiers.org/clinvar/219102 ^@ NM_015047.2(EMC1):c.1411G>C (p.Gly471Arg) http://identifiers.org/clinvar/219100 ^@ NM_015047.2(EMC1):c.245C>T (p.Thr82Met) http://identifiers.org/clinvar/219108 ^@ NM_006290.3(TNFAIP3):c.680T>A (p.Leu227Ter) http://identifiers.org/clinvar/219109 ^@ NM_006290.3(TNFAIP3):c.671delT (p.Phe224Serfs) http://identifiers.org/clinvar/219110 ^@ NM_006290.3(TNFAIP3):c.811C>T (p.Arg271Ter) http://identifiers.org/clinvar/219111 ^@ NM_006290.3(TNFAIP3):c.1809delG (p.Thr604Argfs) http://identifiers.org/clinvar/219112 ^@ NM_006290.3(TNFAIP3):c.918C>G (p.Tyr306Ter) http://identifiers.org/clinvar/219113 ^@ NM_006290.3(TNFAIP3):c.801delG (p.Pro268Leufs) http://identifiers.org/clinvar/219114 ^@ NM_004606.4(TAF1):c.4010T>C (p.Ile1337Thr) http://identifiers.org/clinvar/219115 ^@ NM_004606.4(TAF1):c.2419T>C (p.Cys807Arg) http://identifiers.org/clinvar/219116 ^@ NM_004606.4(TAF1):c.3736C>T (p.Arg1246Trp) http://identifiers.org/clinvar/219117 ^@ NM_004606.4(TAF1):c.1786C>T (p.Pro596Ser) http://identifiers.org/clinvar/219118 ^@ NM_004606.4(TAF1):c.2926G>C (p.Asp976His) http://identifiers.org/clinvar/219119 ^@ NM_016138.4(COQ7):c.422T>A (p.Val141Glu) http://identifiers.org/clinvar/219120 ^@ NM_002582.3(PARN):c.1045C>T (p.Arg349Trp) http://identifiers.org/clinvar/223417 ^@ NM_000038.5(APC):c.1549-212C>A http://identifiers.org/clinvar/223418 ^@ NM_000038.5(APC):c.1958+126G>T http://identifiers.org/clinvar/223419 ^@ NM_000038.5(APC):c.646-1437A>G http://identifiers.org/clinvar/223420 ^@ NM_000038.5(APC):c.645+646A>G http://identifiers.org/clinvar/223421 ^@ NM_001127511.2(APC):c.165+22164T>C http://identifiers.org/clinvar/223422 ^@ NM_000038.5(APC):c.1312+163C>G http://identifiers.org/clinvar/223423 ^@ NM_000038.5(APC):c.835-452G>C http://identifiers.org/clinvar/223424 ^@ NM_000038.5(APC):c.1312+1239T>G http://identifiers.org/clinvar/223425 ^@ NM_000038.5(APC):c.645+3642A>G http://identifiers.org/clinvar/223426 ^@ NM_000038.5(APC):c.-234G>A http://identifiers.org/clinvar/223427 ^@ NM_000038.5(APC):c.1312+778G>A http://identifiers.org/clinvar/223428 ^@ NM_000038.5(APC):c.-18-871T>C http://identifiers.org/clinvar/223429 ^@ NM_000038.5(APC):c.422+2773C>T http://identifiers.org/clinvar/223430 ^@ NM_000038.5(APC):c.-19+679T>A http://identifiers.org/clinvar/223431 ^@ NM_000038.5(APC):c.-164T>C http://identifiers.org/clinvar/223432 ^@ NM_000038.5(APC):c.1312+46T>C http://identifiers.org/clinvar/223433 ^@ NM_000038.5(APC):c.646-1104T>A http://identifiers.org/clinvar/223434 ^@ NM_000038.5(APC):c.1744-144A>G http://identifiers.org/clinvar/223435 ^@ NM_000038.5(APC):c.136-646A>T http://identifiers.org/clinvar/223436 ^@ NM_001127511.2(APC):c.165+25G>A http://identifiers.org/clinvar/223437 ^@ NM_000038.5(APC):c.1743+494C>A http://identifiers.org/clinvar/223438 ^@ NM_000038.5(APC):c.1743+959C>T http://identifiers.org/clinvar/223439 ^@ NM_000038.5(APC):c.729+4358G>A http://identifiers.org/clinvar/223440 ^@ NM_000038.5(APC):c.-19+1592A>C http://identifiers.org/clinvar/223441 ^@ NM_000038.5(APC):c.1409-2354A>C http://identifiers.org/clinvar/223442 ^@ NM_001127511.2(APC):c.165+19920A>G http://identifiers.org/clinvar/223443 ^@ NM_001127511.2(APC):c.165+1074A>C http://identifiers.org/clinvar/223444 ^@ NM_000038.5(APC):c.934-1409A>G http://identifiers.org/clinvar/223445 ^@ NM_000038.5(APC):c.-19+310G>C http://identifiers.org/clinvar/223446 ^@ NM_000038.5(APC):c.835-259A>T http://identifiers.org/clinvar/223447 ^@ NM_000038.5(APC):c.1743+1075A>G http://identifiers.org/clinvar/223448 ^@ NM_000038.5(APC):c.834+4088G>A http://identifiers.org/clinvar/223449 ^@ NM_000038.5(APC):c.-19+6497A>G http://identifiers.org/clinvar/223450 ^@ NM_001127511.2(APC):c.165+915C>T http://identifiers.org/clinvar/223451 ^@ NM_000051.3(ATM):c.8011-215G>C http://identifiers.org/clinvar/223452 ^@ NM_000051.3(ATM):c.-31+1782A>C http://identifiers.org/clinvar/223453 ^@ NM_000051.3(ATM):c.5320-23T>A http://identifiers.org/clinvar/223454 ^@ NM_000051.3(ATM):c.5496+231G>A http://identifiers.org/clinvar/223455 ^@ NM_000051.3(ATM):c.3284+382T>C http://identifiers.org/clinvar/223456 ^@ NM_000051.3(ATM):c.3993+133A>G http://identifiers.org/clinvar/223457 ^@ NM_000051.3(ATM):c.2377-397A>G http://identifiers.org/clinvar/223458 ^@ NM_000051.3(ATM):c.-31+1129T>A http://identifiers.org/clinvar/223459 ^@ NM_000051.3(ATM):c.5918+500T>G http://identifiers.org/clinvar/223460 ^@ NM_000051.3(ATM):c.2124+409A>G http://identifiers.org/clinvar/223461 ^@ NM_000051.3(ATM):c.8010+234T>C http://identifiers.org/clinvar/223462 ^@ NM_000051.3(ATM):c.3747-34A>G http://identifiers.org/clinvar/223463 ^@ NM_000051.3(ATM):c.4109+54A>T http://identifiers.org/clinvar/223464 ^@ NM_000051.3(ATM):c.5763-302A>G http://identifiers.org/clinvar/223465 ^@ NM_000051.3(ATM):c.2838+194A>G http://identifiers.org/clinvar/223466 ^@ NM_000051.3(ATM):c.8011-496T>C http://identifiers.org/clinvar/223467 ^@ NM_000051.3(ATM):c.185+616T>C http://identifiers.org/clinvar/223468 ^@ NM_000051.3(ATM):c.3994-830A>C http://identifiers.org/clinvar/223469 ^@ NM_000051.3(ATM):c.2125-88T>A http://identifiers.org/clinvar/223470 ^@ NM_000051.3(ATM):c.2838+1131C>T http://identifiers.org/clinvar/223471 ^@ NM_000051.3(ATM):c.5005+302A>T http://identifiers.org/clinvar/223472 ^@ NM_000051.3(ATM):c.5918+72A>G http://identifiers.org/clinvar/223473 ^@ NM_000051.3(ATM):c.-31+1135C>T http://identifiers.org/clinvar/223474 ^@ NM_000051.3(ATM):c.5918+103G>A http://identifiers.org/clinvar/223475 ^@ NM_001184.3(ATR):c.6553-490C>G http://identifiers.org/clinvar/223476 ^@ NM_001184.3(ATR):c.7762-208T>C http://identifiers.org/clinvar/223477 ^@ NM_001184.3(ATR):c.3819+389T>C http://identifiers.org/clinvar/223478 ^@ NM_001184.3(ATR):c.6898-69G>A http://identifiers.org/clinvar/223479 ^@ NM_001184.3(ATR):c.59+3019A>C http://identifiers.org/clinvar/223480 ^@ NM_001184.3(ATR):c.292+745A>C http://identifiers.org/clinvar/223481 ^@ NM_001184.3(ATR):c.3358-1899T>G http://identifiers.org/clinvar/223482 ^@ NM_001184.3(ATR):c.3946-104A>G http://identifiers.org/clinvar/223483 ^@ NM_001184.3(ATR):c.7762-209G>T http://identifiers.org/clinvar/223484 ^@ NM_001184.3(ATR):c.7762-439T>C http://identifiers.org/clinvar/223485 ^@ NM_001184.3(ATR):c.59+1024G>A http://identifiers.org/clinvar/223486 ^@ NM_001184.3(ATR):c.3172-266C>A http://identifiers.org/clinvar/223487 ^@ NM_001184.3(ATR):c.7192+98A>G http://identifiers.org/clinvar/223488 ^@ NM_001184.3(ATR):c.6687+210T>G http://identifiers.org/clinvar/223489 ^@ NM_001184.3(ATR):c.2079-28T>C http://identifiers.org/clinvar/223490 ^@ NM_001184.3(ATR):c.7762-724C>T http://identifiers.org/clinvar/223491 ^@ NM_001184.3(ATR):c.3451-641C>A http://identifiers.org/clinvar/223492 ^@ NM_001184.3(ATR):c.7761+375C>T http://identifiers.org/clinvar/223493 ^@ NM_001184.3(ATR):c.3726-24C>A http://identifiers.org/clinvar/223494 ^@ NM_001184.3(ATR):c.3945+483G>A http://identifiers.org/clinvar/223495 ^@ NM_001184.3(ATR):c.6221+2962T>C http://identifiers.org/clinvar/223496 ^@ NM_001184.3(ATR):c.2533-17T>C http://identifiers.org/clinvar/223497 ^@ NM_001184.3(ATR):c.3581+486T>C http://identifiers.org/clinvar/223498 ^@ NM_001184.3(ATR):c.5380+341A>T http://identifiers.org/clinvar/223499 ^@ NM_001184.3(ATR):c.3450+567A>G http://identifiers.org/clinvar/223500 ^@ NM_004656.3(BAP1):c.1116+81T>C http://identifiers.org/clinvar/223501 ^@ NM_004656.3(BAP1):c.1116+254T>G http://identifiers.org/clinvar/223502 ^@ NM_004656.3(BAP1):c.932-51T>A http://identifiers.org/clinvar/223503 ^@ NM_004656.3(BAP1):c.1116+83G>A http://identifiers.org/clinvar/223504 ^@ NM_004656.3(BAP1):c.660-26T>A http://identifiers.org/clinvar/223505 ^@ NM_004656.3(BAP1):c.375+30C>T http://identifiers.org/clinvar/223506 ^@ NM_004656.3(BAP1):c.1891-122G>A http://identifiers.org/clinvar/223507 ^@ NM_004656.3(BAP1):c.2057-22A>C http://identifiers.org/clinvar/223508 ^@ NM_004656.3(BAP1):c.932-38C>T http://identifiers.org/clinvar/223509 ^@ NM_004656.3(BAP1):c.122+291C>T http://identifiers.org/clinvar/223510 ^@ NM_000465.3(BARD1):c.364+4064G>A http://identifiers.org/clinvar/223511 ^@ NM_000465.3(BARD1):c.1315-3486T>C http://identifiers.org/clinvar/223512 ^@ NM_000465.3(BARD1):c.364+4464G>C http://identifiers.org/clinvar/223513 ^@ NM_000465.3(BARD1):c.158+3314A>G http://identifiers.org/clinvar/223514 ^@ NM_000465.3(BARD1):c.1315-3468G>A http://identifiers.org/clinvar/223515 ^@ NM_000465.3(BARD1):c.1903+3826A>G http://identifiers.org/clinvar/223516 ^@ NM_000465.3(BARD1):c.158+3299C>T http://identifiers.org/clinvar/223517 ^@ NM_000465.3(BARD1):c.2002-65A>G http://identifiers.org/clinvar/223518 ^@ NM_000465.3(BARD1):c.364+5275G>A http://identifiers.org/clinvar/223519 ^@ NM_000465.3(BARD1):c.364+3435A>G http://identifiers.org/clinvar/223520 ^@ NM_000465.3(BARD1):c.364+720C>A http://identifiers.org/clinvar/223521 ^@ NM_000465.3(BARD1):c.216-206G>A http://identifiers.org/clinvar/223522 ^@ NM_000465.3(BARD1):c.364+2639C>T http://identifiers.org/clinvar/223523 ^@ NM_000465.3(BARD1):c.1569-2280T>G http://identifiers.org/clinvar/223524 ^@ NM_000465.3(BARD1):c.1314+1738A>G http://identifiers.org/clinvar/223525 ^@ NM_000465.3(BARD1):c.1569-6684C>T http://identifiers.org/clinvar/223526 ^@ NM_000465.3(BARD1):c.1903+5872A>C http://identifiers.org/clinvar/223527 ^@ NM_000465.3(BARD1):c.1903+1696C>G http://identifiers.org/clinvar/223528 ^@ NM_000465.3(BARD1):c.1568+2615T>G http://identifiers.org/clinvar/223529 ^@ NM_000465.3(BARD1):c.364+2098T>C http://identifiers.org/clinvar/223530 ^@ NM_000465.3(BARD1):c.1904-699T>C http://identifiers.org/clinvar/223531 ^@ NM_000465.3(BARD1):c.1569-6332G>T http://identifiers.org/clinvar/223532 ^@ NM_000465.3(BARD1):c.1677+2891T>C http://identifiers.org/clinvar/223533 ^@ NM_000465.3(BARD1):c.1903+2056T>C http://identifiers.org/clinvar/223534 ^@ NM_000465.3(BARD1):c.364+3900A>G http://identifiers.org/clinvar/223535 ^@ NM_000465.3(BARD1):c.1568+1670G>C http://identifiers.org/clinvar/223536 ^@ NM_000465.3(BARD1):c.1569-6730T>C http://identifiers.org/clinvar/223537 ^@ NM_000465.3(BARD1):c.1395+653G>A http://identifiers.org/clinvar/223538 ^@ NM_000465.3(BARD1):c.1677+882T>C http://identifiers.org/clinvar/223539 ^@ NM_000057.3(BLM):c.3020-66T>C http://identifiers.org/clinvar/223540 ^@ NM_000057.3(BLM):c.2824-21A>G http://identifiers.org/clinvar/223541 ^@ NM_000057.3(BLM):c.959+669A>T http://identifiers.org/clinvar/223542 ^@ NM_000057.3(BLM):c.2824-209C>G http://identifiers.org/clinvar/223543 ^@ NM_000057.3(BLM):c.2075-12G>T http://identifiers.org/clinvar/223544 ^@ NM_000057.3(BLM):c.4077-778A>C http://identifiers.org/clinvar/223545 ^@ NM_000057.3(BLM):c.2824-221G>A http://identifiers.org/clinvar/223546 ^@ NM_000057.3(BLM):c.2824-473C>T http://identifiers.org/clinvar/223547 ^@ NM_004329.2(BMPR1A):c.68-3473T>C http://identifiers.org/clinvar/223548 ^@ NM_004329.2(BMPR1A):c.333+784G>A http://identifiers.org/clinvar/223549 ^@ NM_004329.2(BMPR1A):c.531-3547G>A http://identifiers.org/clinvar/223550 ^@ NM_004329.2(BMPR1A):c.67+2569T>C http://identifiers.org/clinvar/223551 ^@ NM_004329.2(BMPR1A):c.67+25T>C http://identifiers.org/clinvar/223552 ^@ NM_007294.3(BRCA1):c.81-3985A>T http://identifiers.org/clinvar/223553 ^@ NM_007294.3(BRCA1):c.80+3843C>G http://identifiers.org/clinvar/223554 ^@ NM_007294.3(BRCA1):c.302-167T>C http://identifiers.org/clinvar/223555 ^@ NM_007294.3(BRCA1):c.5467+741C>A http://identifiers.org/clinvar/223556 ^@ NM_007294.3(BRCA1):c.81-4118G>A http://identifiers.org/clinvar/223557 ^@ NM_007294.3(BRCA1):c.4357+810T>G http://identifiers.org/clinvar/223558 ^@ NM_007294.3(BRCA1):c.4675+819G>A http://identifiers.org/clinvar/223559 ^@ NM_007294.3(BRCA1):c.80+4105A>C http://identifiers.org/clinvar/223560 ^@ NM_007294.3(BRCA1):c.4186-2482T>C http://identifiers.org/clinvar/223561 ^@ NM_007294.3(BRCA1):c.5333-832T>C http://identifiers.org/clinvar/223562 ^@ NM_007294.3(BRCA1):c.4358-1950A>C http://identifiers.org/clinvar/223563 ^@ NM_007294.3(BRCA1):c.548-565A>G http://identifiers.org/clinvar/223564 ^@ NM_007294.3(BRCA1):c.4675+918T>C http://identifiers.org/clinvar/223565 ^@ NM_007294.3(BRCA1):c.4358-2859G>A http://identifiers.org/clinvar/223566 ^@ NM_007294.3(BRCA1):c.4358-2858G>T http://identifiers.org/clinvar/223567 ^@ NM_007294.3(BRCA1):c.441+346G>T http://identifiers.org/clinvar/223568 ^@ NM_007294.3(BRCA1):c.4987-635A>G http://identifiers.org/clinvar/223569 ^@ NM_007294.3(BRCA1):c.4186-3277T>C http://identifiers.org/clinvar/223570 ^@ NM_007294.3(BRCA1):c.4186-2646G>C http://identifiers.org/clinvar/223571 ^@ NM_007294.3(BRCA1):c.5075-742T>A http://identifiers.org/clinvar/223572 ^@ NM_007294.3(BRCA1):c.135-3743G>A http://identifiers.org/clinvar/223573 ^@ NM_007294.3(BRCA1):c.135-226T>A http://identifiers.org/clinvar/223574 ^@ NM_007294.3(BRCA1):c.547+594A>G http://identifiers.org/clinvar/223575 ^@ NM_007294.3(BRCA1):c.5333-786G>A http://identifiers.org/clinvar/223576 ^@ NM_007294.3(BRCA1):c.4986+1566A>G http://identifiers.org/clinvar/223577 ^@ NM_007294.3(BRCA1):c.4676-487G>A http://identifiers.org/clinvar/223578 ^@ NM_007294.3(BRCA1):c.4185+3992C>G http://identifiers.org/clinvar/223579 ^@ NM_007294.3(BRCA1):c.-19-537G>A http://identifiers.org/clinvar/223580 ^@ NM_007294.3(BRCA1):c.5153-150A>C http://identifiers.org/clinvar/223581 ^@ NM_007294.3(BRCA1):c.4987-1085A>G http://identifiers.org/clinvar/223582 ^@ NM_007294.3(BRCA1):c.4675+53C>A http://identifiers.org/clinvar/223583 ^@ NM_000059.3(BRCA2):c.7976+45G>C http://identifiers.org/clinvar/223584 ^@ NM_000059.3(BRCA2):c.1910-855T>C http://identifiers.org/clinvar/223585 ^@ NM_000059.3(BRCA2):c.7805+1767T>C http://identifiers.org/clinvar/223586 ^@ NM_000059.3(BRCA2):c.8331+229A>C http://identifiers.org/clinvar/223587 ^@ NM_000059.3(BRCA2):c.7008-2071T>A http://identifiers.org/clinvar/223588 ^@ NM_000059.3(BRCA2):c.7008-143T>C http://identifiers.org/clinvar/223589 ^@ NM_000059.3(BRCA2):c.9256+5989A>G http://identifiers.org/clinvar/223590 ^@ NM_000059.3(BRCA2):c.517-89G>A http://identifiers.org/clinvar/223591 ^@ NM_000059.3(BRCA2):c.8754+894C>G http://identifiers.org/clinvar/223592 ^@ NM_000059.3(BRCA2):c.1909+886A>T http://identifiers.org/clinvar/223593 ^@ NM_000059.3(BRCA2):c.7977-189T>C http://identifiers.org/clinvar/223594 ^@ NM_000059.3(BRCA2):c.9649-230A>T http://identifiers.org/clinvar/223595 ^@ NM_000059.3(BRCA2):c.7008-2042A>T http://identifiers.org/clinvar/223596 ^@ NM_024332.3(BRCC3):c.493-404C>T http://identifiers.org/clinvar/223597 ^@ NM_024332.3(BRCC3):c.196-1496T>C http://identifiers.org/clinvar/223598 ^@ NM_024332.3(BRCC3):c.403+3165C>A http://identifiers.org/clinvar/223599 ^@ NM_024332.3(BRCC3):c.403+3171G>A http://identifiers.org/clinvar/223600 ^@ NM_024332.3(BRCC3):c.403+241A>G http://identifiers.org/clinvar/223601 ^@ NM_024332.3(BRCC3):c.549-323A>G http://identifiers.org/clinvar/223602 ^@ NM_024332.3(BRCC3):c.123+84T>C http://identifiers.org/clinvar/223603 ^@ NM_024332.3(BRCC3):c.403+205A>G http://identifiers.org/clinvar/223604 ^@ NM_032043.2(BRIP1):c.1141-94G>T http://identifiers.org/clinvar/223605 ^@ NM_032043.2(BRIP1):c.2379+8422T>C http://identifiers.org/clinvar/223606 ^@ NM_032043.2(BRIP1):c.628-7337T>C http://identifiers.org/clinvar/223607 ^@ NM_032043.2(BRIP1):c.2379+8473G>T http://identifiers.org/clinvar/223608 ^@ NM_032043.2(BRIP1):c.2098-12300T>C http://identifiers.org/clinvar/223609 ^@ NM_032043.2(BRIP1):c.628-7560C>T http://identifiers.org/clinvar/223610 ^@ NM_032043.2(BRIP1):c.2379+9531G>A http://identifiers.org/clinvar/223611 ^@ NM_032043.2(BRIP1):c.2380-10425T>C http://identifiers.org/clinvar/223612 ^@ NM_032043.2(BRIP1):c.628-7464C>T http://identifiers.org/clinvar/223613 ^@ NM_032043.2(BRIP1):c.2379+11656A>G http://identifiers.org/clinvar/223614 ^@ NM_032043.2(BRIP1):c.628-7768T>G http://identifiers.org/clinvar/223615 ^@ NM_032043.2(BRIP1):c.205+1013A>C http://identifiers.org/clinvar/223616 ^@ NM_032043.2(BRIP1):c.628-1085C>T http://identifiers.org/clinvar/223617 ^@ NM_032043.2(BRIP1):c.1140+721T>G http://identifiers.org/clinvar/223618 ^@ NM_032043.2(BRIP1):c.2492+6009G>A http://identifiers.org/clinvar/223619 ^@ NM_032043.2(BRIP1):c.507+584T>G http://identifiers.org/clinvar/223620 ^@ NM_032043.2(BRIP1):c.2380-7638A>G http://identifiers.org/clinvar/223621 ^@ NM_032043.2(BRIP1):c.627+1905G>A http://identifiers.org/clinvar/223622 ^@ NM_032043.2(BRIP1):c.628-3799T>A http://identifiers.org/clinvar/223623 ^@ NM_032043.2(BRIP1):c.2379+8266G>C http://identifiers.org/clinvar/223624 ^@ NM_032043.2(BRIP1):c.2492+6114A>G http://identifiers.org/clinvar/223625 ^@ NM_032043.2(BRIP1):c.2380-8850G>T http://identifiers.org/clinvar/223626 ^@ NM_032043.2(BRIP1):c.2380-10657A>T http://identifiers.org/clinvar/223627 ^@ NM_032043.2(BRIP1):c.2492+4475C>T http://identifiers.org/clinvar/223628 ^@ NM_032043.2(BRIP1):c.1340+426T>A http://identifiers.org/clinvar/223629 ^@ NM_032043.2(BRIP1):c.628-1855G>A http://identifiers.org/clinvar/223630 ^@ NM_032043.2(BRIP1):c.2379+12823C>T http://identifiers.org/clinvar/223631 ^@ NM_032043.2(BRIP1):c.2380-7505T>C http://identifiers.org/clinvar/223632 ^@ NM_032043.2(BRIP1):c.1936-429A>G http://identifiers.org/clinvar/223633 ^@ NM_032043.2(BRIP1):c.2492+693G>T http://identifiers.org/clinvar/223634 ^@ NM_032043.2(BRIP1):c.2097+8116A>G http://identifiers.org/clinvar/223635 ^@ NM_032043.2(BRIP1):c.627+8090C>A http://identifiers.org/clinvar/223636 ^@ NM_032043.2(BRIP1):c.627+7958A>G http://identifiers.org/clinvar/223637 ^@ NM_032043.2(BRIP1):c.1140+181A>G http://identifiers.org/clinvar/223638 ^@ NM_032043.2(BRIP1):c.628-9955A>T http://identifiers.org/clinvar/223639 ^@ NM_032043.2(BRIP1):c.2380-10318C>A http://identifiers.org/clinvar/223640 ^@ NM_032043.2(BRIP1):c.508-407A>G http://identifiers.org/clinvar/223641 ^@ NM_032043.2(BRIP1):c.627+12089T>A http://identifiers.org/clinvar/223642 ^@ NM_032043.2(BRIP1):c.918+2262A>G http://identifiers.org/clinvar/223643 ^@ NM_032043.2(BRIP1):c.628-14164G>A http://identifiers.org/clinvar/223644 ^@ NM_032043.2(BRIP1):c.2097+7948C>T http://identifiers.org/clinvar/223645 ^@ NM_032043.2(BRIP1):c.918+42A>C http://identifiers.org/clinvar/223646 ^@ NM_032043.2(BRIP1):c.628-1309G>A http://identifiers.org/clinvar/223647 ^@ NM_032043.2(BRIP1):c.1936-84C>A http://identifiers.org/clinvar/223648 ^@ NM_032043.2(BRIP1):c.2492+5316A>G http://identifiers.org/clinvar/223649 ^@ NM_032043.2(BRIP1):c.1935+164T>G http://identifiers.org/clinvar/223650 ^@ NM_032043.2(BRIP1):c.627+2406A>G http://identifiers.org/clinvar/223651 ^@ NM_032043.2(BRIP1):c.508-175T>A http://identifiers.org/clinvar/223652 ^@ NM_032043.2(BRIP1):c.2493-163T>C http://identifiers.org/clinvar/223653 ^@ NM_032043.2(BRIP1):c.628-1326G>C http://identifiers.org/clinvar/223654 ^@ NM_032043.2(BRIP1):c.918+2479T>G http://identifiers.org/clinvar/223655 ^@ NM_004360.4(CDH1):c.2295+166C>T http://identifiers.org/clinvar/223656 ^@ NM_004360.4(CDH1):c.388-1619G>A http://identifiers.org/clinvar/223657 ^@ NM_004360.4(CDH1):c.388-3020G>T http://identifiers.org/clinvar/223658 ^@ NM_004360.4(CDH1):c.1937-423G>A http://identifiers.org/clinvar/223659 ^@ NM_004360.4(CDH1):c.48+105A>G http://identifiers.org/clinvar/223660 ^@ NM_004360.4(CDH1):c.1137+86T>G http://identifiers.org/clinvar/223661 ^@ NM_004360.4(CDH1):c.48+203C>T http://identifiers.org/clinvar/223662 ^@ NM_000075.3(CDK4):c.632+434A>G http://identifiers.org/clinvar/223663 ^@ NM_000077.4(CDKN2A):c.-493A>T http://identifiers.org/clinvar/223664 ^@ NM_001114121.2(CHEK1):c.1234-26G>A http://identifiers.org/clinvar/223665 ^@ NM_001114121.2(CHEK1):c.1336-481T>C http://identifiers.org/clinvar/223666 ^@ NM_001114121.2(CHEK1):c.290-173C>T http://identifiers.org/clinvar/223667 ^@ NM_001114121.2(CHEK1):c.289+83T>G http://identifiers.org/clinvar/223668 ^@ NM_007194.3(CHEK2):c.909-61T>A http://identifiers.org/clinvar/223669 ^@ NM_007194.3(CHEK2):c.793-122G>A http://identifiers.org/clinvar/223670 ^@ NM_007194.3(CHEK2):c.909-90C>T http://identifiers.org/clinvar/223671 ^@ NM_007194.3(CHEK2):c.1096-129A>T http://identifiers.org/clinvar/223672 ^@ NM_007194.3(CHEK2):c.592+1802A>G http://identifiers.org/clinvar/223673 ^@ NM_007194.3(CHEK2):c.909-74T>C http://identifiers.org/clinvar/223674 ^@ NM_007194.3(CHEK2):c.-7+136T>C http://identifiers.org/clinvar/223675 ^@ NM_007194.3(CHEK2):c.792+128C>T http://identifiers.org/clinvar/223676 ^@ NM_007194.3(CHEK2):c.592+1705C>A http://identifiers.org/clinvar/223677 ^@ NM_007194.3(CHEK2):c.-6-3504A>G http://identifiers.org/clinvar/223678 ^@ NM_007194.3(CHEK2):c.846+664C>T http://identifiers.org/clinvar/223679 ^@ NM_007194.3(CHEK2):c.1462-181A>T http://identifiers.org/clinvar/223680 ^@ NM_007194.3(CHEK2):c.847-1329T>C http://identifiers.org/clinvar/223681 ^@ NM_007194.3(CHEK2):c.1375+140G>C http://identifiers.org/clinvar/223682 ^@ NM_007194.3(CHEK2):c.793-107G>T http://identifiers.org/clinvar/223683 ^@ NM_007194.3(CHEK2):c.1542+208C>T http://identifiers.org/clinvar/223684 ^@ NM_007194.3(CHEK2):c.1461+1775T>C http://identifiers.org/clinvar/223685 ^@ NM_007194.3(CHEK2):c.1375+121T>C http://identifiers.org/clinvar/223686 ^@ NM_007194.3(CHEK2):c.1461+783C>T http://identifiers.org/clinvar/223687 ^@ NM_007194.3(CHEK2):c.1009-166A>G http://identifiers.org/clinvar/223688 ^@ NM_001903.4(CTNNA1):c.1389+2076C>T http://identifiers.org/clinvar/223689 ^@ NM_001903.4(CTNNA1):c.1389+2064T>G http://identifiers.org/clinvar/223690 ^@ NM_001903.4(CTNNA1):c.301+2888G>A http://identifiers.org/clinvar/223691 ^@ NM_001903.4(CTNNA1):c.1063-287A>G http://identifiers.org/clinvar/223692 ^@ NM_001903.4(CTNNA1):c.301+2743C>T http://identifiers.org/clinvar/223693 ^@ NM_001903.4(CTNNA1):c.1063-19050A>G http://identifiers.org/clinvar/223694 ^@ NM_001903.4(CTNNA1):c.1063-2820A>T http://identifiers.org/clinvar/223695 ^@ NM_001903.4(CTNNA1):c.-2-903A>G http://identifiers.org/clinvar/223696 ^@ NM_001903.4(CTNNA1):c.1063-6418G>A http://identifiers.org/clinvar/223697 ^@ NM_001903.4(CTNNA1):c.1144-329C>A http://identifiers.org/clinvar/223698 ^@ NM_001903.4(CTNNA1):c.1144-299G>A http://identifiers.org/clinvar/223699 ^@ NM_001903.4(CTNNA1):c.301+10399G>A http://identifiers.org/clinvar/223700 ^@ NM_001903.4(CTNNA1):c.1546+1313T>G http://identifiers.org/clinvar/223701 ^@ NM_001903.4(CTNNA1):c.-2-9465T>C http://identifiers.org/clinvar/223702 ^@ NM_001903.4(CTNNA1):c.1296+246C>T http://identifiers.org/clinvar/223703 ^@ NM_001903.4(CTNNA1):c.1546+1759C>G http://identifiers.org/clinvar/223704 ^@ NM_001903.4(CTNNA1):c.1062+22747T>C http://identifiers.org/clinvar/223705 ^@ NM_001903.4(CTNNA1):c.1063-20411T>C http://identifiers.org/clinvar/223706 ^@ NM_001903.4(CTNNA1):c.2011-537A>G http://identifiers.org/clinvar/223707 ^@ NM_001903.4(CTNNA1):c.-2-9414C>T http://identifiers.org/clinvar/223708 ^@ NM_001903.4(CTNNA1):c.1063-2839C>T http://identifiers.org/clinvar/223709 ^@ NM_001903.4(CTNNA1):c.-2-9347A>G http://identifiers.org/clinvar/223710 ^@ NM_001903.4(CTNNA1):c.588+3204G>A http://identifiers.org/clinvar/223711 ^@ NM_001903.4(CTNNA1):c.-2-9363A>G http://identifiers.org/clinvar/223712 ^@ NM_001903.4(CTNNA1):c.1390-2895A>T http://identifiers.org/clinvar/223713 ^@ NM_001903.4(CTNNA1):c.1389+4690A>G http://identifiers.org/clinvar/223714 ^@ NM_001903.4(CTNNA1):c.1063-5322T>G http://identifiers.org/clinvar/223715 ^@ NM_001903.4(CTNNA1):c.-2-9674A>G http://identifiers.org/clinvar/223716 ^@ NM_001903.4(CTNNA1):c.105+137T>G http://identifiers.org/clinvar/223717 ^@ NM_001903.4(CTNNA1):c.858+1327A>C http://identifiers.org/clinvar/223718 ^@ NM_001903.4(CTNNA1):c.1063-25416G>A http://identifiers.org/clinvar/223719 ^@ NM_001903.4(CTNNA1):c.1062+19414A>G http://identifiers.org/clinvar/223720 ^@ NM_001903.4(CTNNA1):c.1062+6479A>G http://identifiers.org/clinvar/223721 ^@ NM_001903.4(CTNNA1):c.858+1346C>T http://identifiers.org/clinvar/223722 ^@ NM_001903.4(CTNNA1):c.1062+16654T>A http://identifiers.org/clinvar/223723 ^@ NM_001903.4(CTNNA1):c.1062+7809A>G http://identifiers.org/clinvar/223724 ^@ NM_001903.4(CTNNA1):c.589-1736A>C http://identifiers.org/clinvar/223725 ^@ NM_001903.4(CTNNA1):c.1063-8121A>G http://identifiers.org/clinvar/223726 ^@ NM_001903.4(CTNNA1):c.-3+8865C>T http://identifiers.org/clinvar/223727 ^@ NM_001903.4(CTNNA1):c.1062+16658G>T http://identifiers.org/clinvar/223728 ^@ NM_001903.4(CTNNA1):c.-3+9131G>T http://identifiers.org/clinvar/223729 ^@ NM_001903.4(CTNNA1):c.1063-4604G>T http://identifiers.org/clinvar/223730 ^@ NM_001903.4(CTNNA1):c.858+1291T>G http://identifiers.org/clinvar/223731 ^@ NM_001903.4(CTNNA1):c.1144-439C>G http://identifiers.org/clinvar/223732 ^@ NM_001903.4(CTNNA1):c.1063-19813A>G http://identifiers.org/clinvar/223733 ^@ NM_001903.4(CTNNA1):c.589-72A>G http://identifiers.org/clinvar/223734 ^@ NM_001903.4(CTNNA1):c.301+6635A>G http://identifiers.org/clinvar/223735 ^@ NM_001903.4(CTNNA1):c.1062+17130A>G http://identifiers.org/clinvar/223736 ^@ NM_001903.4(CTNNA1):c.-3+323G>A http://identifiers.org/clinvar/223737 ^@ NM_001903.4(CTNNA1):c.-2-6669C>T http://identifiers.org/clinvar/223738 ^@ NM_001903.4(CTNNA1):c.1063-686A>C http://identifiers.org/clinvar/223739 ^@ NM_001903.4(CTNNA1):c.1062+23400A>G http://identifiers.org/clinvar/223740 ^@ NM_001903.4(CTNNA1):c.106-335C>G http://identifiers.org/clinvar/223741 ^@ NM_001903.4(CTNNA1):c.588+3208A>C http://identifiers.org/clinvar/223742 ^@ NM_001903.4(CTNNA1):c.301+9912G>A http://identifiers.org/clinvar/223743 ^@ NM_001903.4(CTNNA1):c.-3+31G>C http://identifiers.org/clinvar/223744 ^@ NM_001903.4(CTNNA1):c.1062+23401A>G http://identifiers.org/clinvar/223745 ^@ NM_001903.4(CTNNA1):c.1297-1003C>T http://identifiers.org/clinvar/223746 ^@ NM_001903.4(CTNNA1):c.1297-7760G>A http://identifiers.org/clinvar/223747 ^@ NM_001903.4(CTNNA1):c.-2-10058A>G http://identifiers.org/clinvar/223748 ^@ NM_001903.4(CTNNA1):c.302-1827G>T http://identifiers.org/clinvar/223749 ^@ NM_001903.4(CTNNA1):c.1297-2405G>C http://identifiers.org/clinvar/223750 ^@ NM_001903.4(CTNNA1):c.1063-25453A>T http://identifiers.org/clinvar/223751 ^@ NM_001903.4(CTNNA1):c.301+5909A>C http://identifiers.org/clinvar/223752 ^@ NM_001903.4(CTNNA1):c.1297-6396G>C http://identifiers.org/clinvar/223753 ^@ NM_001903.4(CTNNA1):c.-3+439T>C http://identifiers.org/clinvar/223754 ^@ NM_001903.4(CTNNA1):c.-2-11654G>A http://identifiers.org/clinvar/223755 ^@ NM_001903.4(CTNNA1):c.106-531A>T http://identifiers.org/clinvar/223756 ^@ NM_001903.4(CTNNA1):c.-2-908C>G http://identifiers.org/clinvar/223757 ^@ NM_001903.4(CTNNA1):c.-2-9524C>T http://identifiers.org/clinvar/223758 ^@ NM_001903.4(CTNNA1):c.1063-2943T>G http://identifiers.org/clinvar/223759 ^@ NM_001903.4(CTNNA1):c.1062+17518A>G http://identifiers.org/clinvar/223760 ^@ NM_001903.4(CTNNA1):c.301+5248G>A http://identifiers.org/clinvar/223761 ^@ NM_001903.4(CTNNA1):c.1389+4889T>A http://identifiers.org/clinvar/223762 ^@ NM_001903.4(CTNNA1):c.1062+3189T>C http://identifiers.org/clinvar/223763 ^@ NM_001903.4(CTNNA1):c.1063-20466A>T http://identifiers.org/clinvar/223764 ^@ NM_001903.4(CTNNA1):c.1062+23712T>G http://identifiers.org/clinvar/223765 ^@ NM_001903.4(CTNNA1):c.1063-16964T>C http://identifiers.org/clinvar/223766 ^@ NM_001903.4(CTNNA1):c.301+12335G>A http://identifiers.org/clinvar/223767 ^@ NM_001903.4(CTNNA1):c.859-929G>A http://identifiers.org/clinvar/223768 ^@ NM_001903.4(CTNNA1):c.1296+3298G>A http://identifiers.org/clinvar/223769 ^@ NM_001903.4(CTNNA1):c.105+159G>A http://identifiers.org/clinvar/223770 ^@ NM_001903.4(CTNNA1):c.1063-21013G>A http://identifiers.org/clinvar/223771 ^@ NM_001903.4(CTNNA1):c.469-92T>C http://identifiers.org/clinvar/223772 ^@ NM_001903.4(CTNNA1):c.1062+26918G>C http://identifiers.org/clinvar/223773 ^@ NM_001903.4(CTNNA1):c.-2-771C>G http://identifiers.org/clinvar/223774 ^@ NM_001903.4(CTNNA1):c.-3+549A>C http://identifiers.org/clinvar/223775 ^@ NM_001903.4(CTNNA1):c.1062+20432A>G http://identifiers.org/clinvar/223776 ^@ NM_001903.4(CTNNA1):c.1297-6852A>G http://identifiers.org/clinvar/223777 ^@ NM_001903.4(CTNNA1):c.1546+558A>G http://identifiers.org/clinvar/223778 ^@ NM_001903.4(CTNNA1):c.1297-1229A>G http://identifiers.org/clinvar/223779 ^@ NM_001903.4(CTNNA1):c.1062+23381C>T http://identifiers.org/clinvar/223780 ^@ NM_001903.4(CTNNA1):c.1063-1207T>A http://identifiers.org/clinvar/223781 ^@ NM_001903.4(CTNNA1):c.-3+10127C>G http://identifiers.org/clinvar/223782 ^@ NM_001903.4(CTNNA1):c.1296+7862G>T http://identifiers.org/clinvar/223783 ^@ NM_001903.4(CTNNA1):c.1063-5613A>C http://identifiers.org/clinvar/223784 ^@ NM_001903.4(CTNNA1):c.1063-8796C>G http://identifiers.org/clinvar/223785 ^@ NM_001903.4(CTNNA1):c.1062+6523A>C http://identifiers.org/clinvar/223786 ^@ NM_001903.4(CTNNA1):c.1063-10824C>T http://identifiers.org/clinvar/223787 ^@ NM_001903.4(CTNNA1):c.588+2270T>C http://identifiers.org/clinvar/223788 ^@ NM_001903.4(CTNNA1):c.1063-11322A>C http://identifiers.org/clinvar/223789 ^@ NM_002354.2(EPCAM):c.903+573T>C http://identifiers.org/clinvar/223790 ^@ NM_002354.2(EPCAM):c.76+501C>T http://identifiers.org/clinvar/223791 ^@ NM_002354.2(EPCAM):c.556-167A>T http://identifiers.org/clinvar/223792 ^@ NM_002354.2(EPCAM):c.76+611C>T http://identifiers.org/clinvar/223793 ^@ NM_002354.2(EPCAM):c.76+148C>T http://identifiers.org/clinvar/223794 ^@ NM_139076.2(FAM175A):c.179-2093C>G http://identifiers.org/clinvar/223795 ^@ NM_139076.2(FAM175A):c.283-108C>T http://identifiers.org/clinvar/223796 ^@ NM_139076.2(FAM175A):c.179-1773A>G http://identifiers.org/clinvar/223797 ^@ NM_139076.2(FAM175A):c.283-97G>C http://identifiers.org/clinvar/223798 ^@ NM_139076.2(FAM175A):c.179-1131T>C http://identifiers.org/clinvar/223799 ^@ NM_139076.2(FAM175A):c.283-137T>C http://identifiers.org/clinvar/223800 ^@ NM_139076.2(FAM175A):c.179-1747C>G http://identifiers.org/clinvar/223801 ^@ NM_139076.2(FAM175A):c.87+555T>A http://identifiers.org/clinvar/223802 ^@ NM_139076.2(FAM175A):c.216-277T>C http://identifiers.org/clinvar/223803 ^@ NM_024642.4(GALNT12):c.1036-27C>T http://identifiers.org/clinvar/223804 ^@ NM_024642.4(GALNT12):c.371+1744G>T http://identifiers.org/clinvar/223805 ^@ NM_182625.4(GEN1):c.-16+1828A>T http://identifiers.org/clinvar/223806 ^@ NM_182625.4(GEN1):c.-16+1930T>G http://identifiers.org/clinvar/223807 ^@ NM_182625.4(GEN1):c.711-21A>T http://identifiers.org/clinvar/223808 ^@ NM_182625.4(GEN1):c.1202+205T>C http://identifiers.org/clinvar/223809 ^@ NM_182625.4(GEN1):c.711-98G>A http://identifiers.org/clinvar/223810 ^@ NM_182625.4(GEN1):c.525+675A>C http://identifiers.org/clinvar/223811 ^@ NM_182625.4(GEN1):c.-15-2285A>T http://identifiers.org/clinvar/223812 ^@ NM_182625.4(GEN1):c.637-23T>C http://identifiers.org/clinvar/223813 ^@ NM_182625.4(GEN1):c.636+1002C>T http://identifiers.org/clinvar/223814 ^@ NM_182625.4(GEN1):c.1202+195A>G http://identifiers.org/clinvar/223815 ^@ NM_182625.4(GEN1):c.-16+171G>T http://identifiers.org/clinvar/223816 ^@ NM_182625.4(GEN1):c.-15-15T>G http://identifiers.org/clinvar/223817 ^@ NM_182625.4(GEN1):c.349-1122G>C http://identifiers.org/clinvar/223818 ^@ NM_182625.4(GEN1):c.-15-1461T>C http://identifiers.org/clinvar/223819 ^@ NM_182625.4(GEN1):c.349-404T>G http://identifiers.org/clinvar/223820 ^@ NM_013372.6(GREM1):c.-2+1514T>G http://identifiers.org/clinvar/223821 ^@ NM_013372.6(GREM1):c.-2+2056C>T http://identifiers.org/clinvar/223822 ^@ NM_013372.6(GREM1):c.-1-797A>G http://identifiers.org/clinvar/223823 ^@ NM_000244.3(MEN1):c.1200+12G>A http://identifiers.org/clinvar/223824 ^@ NM_000249.3(MLH1):c.1668-354G>T http://identifiers.org/clinvar/223825 ^@ NM_000249.3(MLH1):c.1558+1857G>C http://identifiers.org/clinvar/223826 ^@ NM_000249.3(MLH1):c.1558+4045G>C http://identifiers.org/clinvar/223827 ^@ NM_000249.3(MLH1):c.1558+4409C>T http://identifiers.org/clinvar/223828 ^@ NM_000249.3(MLH1):c.791-559C>T http://identifiers.org/clinvar/223829 ^@ NM_000249.3(MLH1):c.1558+4253G>A http://identifiers.org/clinvar/223830 ^@ NM_000249.3(MLH1):c.117-824A>C http://identifiers.org/clinvar/223831 ^@ NM_000249.3(MLH1):c.791-608T>G http://identifiers.org/clinvar/223832 ^@ NM_000249.3(MLH1):c.790+32C>G http://identifiers.org/clinvar/223833 ^@ NM_000249.3(MLH1):c.791-1322T>A http://identifiers.org/clinvar/223834 ^@ NM_000249.3(MLH1):c.1558+4410G>A http://identifiers.org/clinvar/223835 ^@ NM_000249.3(MLH1):c.117-1371A>G http://identifiers.org/clinvar/223836 ^@ NM_000249.3(MLH1):c.1558+4248C>T http://identifiers.org/clinvar/223837 ^@ NM_000249.3(MLH1):c.546-40_546-39insC http://identifiers.org/clinvar/223838 ^@ NM_000249.3(MLH1):c.2103+713A>G http://identifiers.org/clinvar/223839 ^@ NM_000249.3(MLH1):c.677+603G>T http://identifiers.org/clinvar/223840 ^@ NM_000249.3(MLH1):c.380+164A>G http://identifiers.org/clinvar/223841 ^@ NM_005591.3(MRE11):c.659+1292A>T http://identifiers.org/clinvar/223842 ^@ NM_005591.3(MRE11):c.1868-1793T>C http://identifiers.org/clinvar/223843 ^@ NM_005591.3(MRE11):c.2071-53G>T http://identifiers.org/clinvar/223844 ^@ NM_005591.3(MRE11):c.1501-544C>T http://identifiers.org/clinvar/223845 ^@ NM_005591.3(MRE11):c.1326+93G>T http://identifiers.org/clinvar/223846 ^@ NM_005591.3(MRE11):c.659+1306G>A http://identifiers.org/clinvar/223847 ^@ NM_005591.3(MRE11):c.659+1491A>G http://identifiers.org/clinvar/223848 ^@ NM_005591.3(MRE11):c.403-131T>G http://identifiers.org/clinvar/223849 ^@ NM_000251.2(MSH2):c.1276+6958A>T http://identifiers.org/clinvar/223850 ^@ NM_000251.2(MSH2):c.2005+479T>G http://identifiers.org/clinvar/223851 ^@ NM_000251.2(MSH2):c.1386+917T>A http://identifiers.org/clinvar/223852 ^@ NM_000251.2(MSH2):c.1387-6173G>T http://identifiers.org/clinvar/223853 ^@ NM_000251.2(MSH2):c.1077-766A>G http://identifiers.org/clinvar/223854 ^@ NM_000251.2(MSH2):c.1077-775C>T http://identifiers.org/clinvar/223855 ^@ NM_000251.2(MSH2):c.1387-6187G>A http://identifiers.org/clinvar/223856 ^@ NM_000251.2(MSH2):c.1387-2159A>G http://identifiers.org/clinvar/223857 ^@ NM_000251.2(MSH2):c.1386+7642A>G http://identifiers.org/clinvar/223858 ^@ NM_000251.2(MSH2):c.1386+149A>T http://identifiers.org/clinvar/223859 ^@ NM_000251.2(MSH2):c.2635-320A>G http://identifiers.org/clinvar/223860 ^@ NM_000251.2(MSH2):c.1076+4134C>G http://identifiers.org/clinvar/223861 ^@ NM_000251.2(MSH2):c.2635-325C>T http://identifiers.org/clinvar/223862 ^@ NM_000251.2(MSH2):c.1277-2433T>A http://identifiers.org/clinvar/223863 ^@ NM_000251.2(MSH2):c.1386+6500A>G http://identifiers.org/clinvar/223864 ^@ NM_000251.2(MSH2):c.2459-312A>G http://identifiers.org/clinvar/223865 ^@ NM_000251.2(MSH2):c.2459-1055A>G http://identifiers.org/clinvar/223866 ^@ NM_000251.2(MSH2):c.1386+4512G>T http://identifiers.org/clinvar/223867 ^@ NM_000251.2(MSH2):c.1759+1281G>A http://identifiers.org/clinvar/223868 ^@ NM_000179.2(MSH6):c.458-518G>T http://identifiers.org/clinvar/223869 ^@ NM_000179.2(MSH6):c.458-509G>A http://identifiers.org/clinvar/223870 ^@ NM_000179.2(MSH6):c.260+279C>T http://identifiers.org/clinvar/223871 ^@ NM_000179.2(MSH6):c.3172+875A>C http://identifiers.org/clinvar/223872 ^@ NM_000179.2(MSH6):c.458-1174T>C http://identifiers.org/clinvar/223873 ^@ NM_000179.2(MSH6):c.260+84T>G http://identifiers.org/clinvar/223874 ^@ NM_000179.2(MSH6):c.627+566T>G http://identifiers.org/clinvar/223875 ^@ NM_000179.2(MSH6):c.260+265G>A http://identifiers.org/clinvar/223876 ^@ NM_000179.2(MSH6):c.261-565C>T http://identifiers.org/clinvar/223877 ^@ NM_000179.2(MSH6):c.627+267G>A http://identifiers.org/clinvar/223878 ^@ NM_000179.2(MSH6):c.261-3611A>G http://identifiers.org/clinvar/223879 ^@ NM_002485.4(NBN):c.585-43C>T http://identifiers.org/clinvar/223880 ^@ NM_002485.4(NBN):c.1915-627A>G http://identifiers.org/clinvar/223881 ^@ NM_002485.4(NBN):c.2185-2623A>G http://identifiers.org/clinvar/223882 ^@ NM_002485.4(NBN):c.1398-203G>A http://identifiers.org/clinvar/223883 ^@ NM_002485.4(NBN):c.2185-2624A>G http://identifiers.org/clinvar/223884 ^@ NM_002485.4(NBN):c.2234+604C>T http://identifiers.org/clinvar/223885 ^@ NM_002485.4(NBN):c.1914+744A>C http://identifiers.org/clinvar/223886 ^@ NM_002485.4(NBN):c.703-108T>C http://identifiers.org/clinvar/223887 ^@ NM_002485.4(NBN):c.995-472A>G http://identifiers.org/clinvar/223888 ^@ NM_002485.4(NBN):c.171+125T>C http://identifiers.org/clinvar/223889 ^@ NM_002485.4(NBN):c.994+2090C>G http://identifiers.org/clinvar/223890 ^@ NM_002485.4(NBN):c.2185-1935A>G http://identifiers.org/clinvar/223891 ^@ NM_002485.4(NBN):c.994+2191G>A http://identifiers.org/clinvar/223892 ^@ NM_002485.4(NBN):c.584+3089G>T http://identifiers.org/clinvar/223893 ^@ NM_002485.4(NBN):c.584+3101G>A http://identifiers.org/clinvar/223894 ^@ NM_002485.4(NBN):c.321-209C>T http://identifiers.org/clinvar/223895 ^@ NM_002485.4(NBN):c.480+248G>A http://identifiers.org/clinvar/223896 ^@ NM_024675.3(PALB2):c.2514+136T>C http://identifiers.org/clinvar/223897 ^@ NM_024675.3(PALB2):c.3114-522T>C http://identifiers.org/clinvar/223898 ^@ NM_024675.3(PALB2):c.1684+1290C>T http://identifiers.org/clinvar/223899 ^@ NM_024675.3(PALB2):c.3350+1313G>A http://identifiers.org/clinvar/223900 ^@ NM_024675.3(PALB2):c.48+398A>G http://identifiers.org/clinvar/223901 ^@ NM_024675.3(PALB2):c.2515-39A>G http://identifiers.org/clinvar/223902 ^@ NM_006218.3(PIK3CA):c.2015+349A>G http://identifiers.org/clinvar/223903 ^@ NM_006218.3(PIK3CA):c.2495+1357T>G http://identifiers.org/clinvar/223904 ^@ NM_006218.3(PIK3CA):c.2667-148A>G http://identifiers.org/clinvar/223905 ^@ NM_006218.3(PIK3CA):c.2416+67A>G http://identifiers.org/clinvar/223906 ^@ NM_006218.3(PIK3CA):c.814-150A>C http://identifiers.org/clinvar/223907 ^@ NM_006218.3(PIK3CA):c.2015+313A>G http://identifiers.org/clinvar/223908 ^@ NM_006218.3(PIK3CA):c.2495+483C>T http://identifiers.org/clinvar/223909 ^@ NM_006218.3(PIK3CA):c.1146-955A>G http://identifiers.org/clinvar/223910 ^@ NM_006218.3(PIK3CA):c.-77+196G>A http://identifiers.org/clinvar/223911 ^@ NM_006218.3(PIK3CA):c.2667-246T>C http://identifiers.org/clinvar/223912 ^@ NM_006218.3(PIK3CA):c.2187+1078A>T http://identifiers.org/clinvar/223913 ^@ NM_006218.3(PIK3CA):c.-76-138A>T http://identifiers.org/clinvar/223914 ^@ NM_006218.3(PIK3CA):c.1665-44C>A http://identifiers.org/clinvar/223915 ^@ NM_000535.6(PMS2):c.24-1474A>G http://identifiers.org/clinvar/223916 ^@ NM_000535.6(PMS2):c.23+85G>C http://identifiers.org/clinvar/223917 ^@ NM_001256849.1(POLD1):c.3219-70C>T http://identifiers.org/clinvar/223918 ^@ NM_001256849.1(POLD1):c.3219-250G>T http://identifiers.org/clinvar/223919 ^@ NM_001308632.1(POLD1):c.1786C>G (p.Gln596Glu) http://identifiers.org/clinvar/223920 ^@ NM_001256849.1(POLD1):c.1495-204C>T http://identifiers.org/clinvar/223921 ^@ NM_006231.3(POLE):c.579-16T>C http://identifiers.org/clinvar/223922 ^@ NM_006231.3(POLE):c.4150-1411C>A http://identifiers.org/clinvar/223923 ^@ NM_006231.3(POLE):c.423+70G>A http://identifiers.org/clinvar/223924 ^@ NM_006231.3(POLE):c.330+55G>C http://identifiers.org/clinvar/223925 ^@ NM_006231.3(POLE):c.4149+1524C>T http://identifiers.org/clinvar/223926 ^@ NM_003620.3(PPM1D):c.702-21A>G http://identifiers.org/clinvar/223927 ^@ NM_003620.3(PPM1D):c.472+314G>A http://identifiers.org/clinvar/223928 ^@ NM_003620.3(PPM1D):c.701+366C>T http://identifiers.org/clinvar/223929 ^@ NM_003620.3(PPM1D):c.702-2064T>C http://identifiers.org/clinvar/223930 ^@ NM_003620.3(PPM1D):c.1260+2807G>A http://identifiers.org/clinvar/223931 ^@ NM_003620.3(PPM1D):c.1261-1386A>G http://identifiers.org/clinvar/223932 ^@ NM_003620.3(PPM1D):c.1017+51A>G http://identifiers.org/clinvar/223933 ^@ NM_003620.3(PPM1D):c.1017+3929A>C http://identifiers.org/clinvar/223934 ^@ NM_003620.3(PPM1D):c.701+3346A>G http://identifiers.org/clinvar/223935 ^@ NM_003620.3(PPM1D):c.472+77G>A http://identifiers.org/clinvar/223936 ^@ NM_003620.3(PPM1D):c.472+1152A>G http://identifiers.org/clinvar/223937 ^@ NM_003620.3(PPM1D):c.473-1294T>C http://identifiers.org/clinvar/223938 ^@ NM_003620.3(PPM1D):c.702-3299C>T http://identifiers.org/clinvar/223939 ^@ NM_003620.3(PPM1D):c.472+4585C>T http://identifiers.org/clinvar/223940 ^@ NM_002769.4(PRSS1):c.41-215G>A http://identifiers.org/clinvar/223941 ^@ NM_000314.6(PTEN):c.80-12951T>C http://identifiers.org/clinvar/223942 ^@ NM_000314.6(PTEN):c.79+11557A>C http://identifiers.org/clinvar/223943 ^@ NM_000314.6(PTEN):c.210-2616C>T http://identifiers.org/clinvar/223944 ^@ NM_000314.6(PTEN):c.79+11548A>G http://identifiers.org/clinvar/223945 ^@ NM_000314.6(PTEN):c.79+10772A>G http://identifiers.org/clinvar/223946 ^@ NM_000314.6(PTEN):c.79+13451A>C http://identifiers.org/clinvar/223947 ^@ NM_000314.6(PTEN):c.79+10657T>C http://identifiers.org/clinvar/223948 ^@ NM_000314.6(PTEN):c.209+2046C>T http://identifiers.org/clinvar/223949 ^@ NM_000314.6(PTEN):c.79+12219A>G http://identifiers.org/clinvar/223950 ^@ NM_000314.6(PTEN):c.79+10771G>T http://identifiers.org/clinvar/223951 ^@ NM_000314.6(PTEN):c.79+11891T>C http://identifiers.org/clinvar/223952 ^@ NM_000314.6(PTEN):c.492+5832A>G http://identifiers.org/clinvar/223953 ^@ NM_000314.6(PTEN):c.79+11873T>C http://identifiers.org/clinvar/223954 ^@ NM_000314.6(PTEN):c.79+14637T>C http://identifiers.org/clinvar/223955 ^@ NM_000314.6(PTEN):c.209+769T>C http://identifiers.org/clinvar/223956 ^@ NM_000314.6(PTEN):c.165-10234C>T http://identifiers.org/clinvar/223957 ^@ NM_000314.6(PTEN):c.492+5850T>A http://identifiers.org/clinvar/223958 ^@ NM_000314.6(PTEN):c.80-11414T>C http://identifiers.org/clinvar/223959 ^@ NM_000314.6(PTEN):c.79+1409T>C http://identifiers.org/clinvar/223960 ^@ NM_000314.6(PTEN):c.165-10233G>A http://identifiers.org/clinvar/223961 ^@ NM_000314.6(PTEN):c.1026+111T>C http://identifiers.org/clinvar/223962 ^@ NM_000314.6(PTEN):c.209+239A>G http://identifiers.org/clinvar/223963 ^@ NM_000314.6(PTEN):c.165-9280G>A http://identifiers.org/clinvar/223964 ^@ NM_000314.6(PTEN):c.165-9285G>A http://identifiers.org/clinvar/223965 ^@ NM_000314.6(PTEN):c.492+57A>G http://identifiers.org/clinvar/223966 ^@ NM_000314.6(PTEN):c.80-14058G>C http://identifiers.org/clinvar/223967 ^@ NM_000314.6(PTEN):c.79+9762G>A http://identifiers.org/clinvar/223968 ^@ NM_000314.6(PTEN):c.79+452C>T http://identifiers.org/clinvar/223969 ^@ NM_000314.6(PTEN):c.801+1187A>G http://identifiers.org/clinvar/223970 ^@ NM_000314.6(PTEN):c.1026+121C>T http://identifiers.org/clinvar/223971 ^@ NM_000314.6(PTEN):c.79+2379G>A http://identifiers.org/clinvar/223972 ^@ NM_000314.6(PTEN):c.493-2809A>G http://identifiers.org/clinvar/223973 ^@ NM_000314.6(PTEN):c.79+14412A>G http://identifiers.org/clinvar/223974 ^@ NM_000314.6(PTEN):c.79+436C>T http://identifiers.org/clinvar/223975 ^@ NM_000314.6(PTEN):c.79+3193A>G http://identifiers.org/clinvar/223976 ^@ NM_000314.6(PTEN):c.493-889G>A http://identifiers.org/clinvar/223977 ^@ NM_000314.6(PTEN):c.80-11759G>A http://identifiers.org/clinvar/223978 ^@ NM_000314.6(PTEN):c.209+736A>G http://identifiers.org/clinvar/223979 ^@ NM_000314.6(PTEN):c.802-558T>C http://identifiers.org/clinvar/223980 ^@ NM_000314.6(PTEN):c.79+376T>A http://identifiers.org/clinvar/223981 ^@ NM_000314.6(PTEN):c.164+324G>A http://identifiers.org/clinvar/223982 ^@ NM_000314.6(PTEN):c.79+4399C>T http://identifiers.org/clinvar/223983 ^@ NM_000314.6(PTEN):c.634+645G>A http://identifiers.org/clinvar/223984 ^@ NM_000314.6(PTEN):c.79+369G>A http://identifiers.org/clinvar/223985 ^@ NM_000314.6(PTEN):c.493-7489A>G http://identifiers.org/clinvar/223986 ^@ NM_000314.6(PTEN):c.79+968A>G http://identifiers.org/clinvar/223987 ^@ NM_000314.6(PTEN):c.635-696G>C http://identifiers.org/clinvar/223988 ^@ NM_000314.6(PTEN):c.801+281A>G http://identifiers.org/clinvar/223989 ^@ NM_133509.3(RAD51B):c.958-29A>T http://identifiers.org/clinvar/223990 ^@ NM_133509.3(RAD51B):c.1036+3907G>A http://identifiers.org/clinvar/223991 ^@ NM_133509.3(RAD51B):c.854-24328T>C http://identifiers.org/clinvar/223992 ^@ NM_133509.3(RAD51B):c.85-62T>C http://identifiers.org/clinvar/223993 ^@ NM_133509.3(RAD51B):c.854-24150C>A http://identifiers.org/clinvar/223994 ^@ NM_133509.3(RAD51B):c.756+112979T>C http://identifiers.org/clinvar/223995 ^@ NM_133509.3(RAD51B):c.757-92T>C http://identifiers.org/clinvar/223996 ^@ NM_058216.2(RAD51C):c.966-3481A>T http://identifiers.org/clinvar/223997 ^@ NM_058216.2(RAD51C):c.966-3587A>G http://identifiers.org/clinvar/223998 ^@ NM_058216.2(RAD51C):c.904+1374A>G http://identifiers.org/clinvar/223999 ^@ NM_058216.2(RAD51C):c.965+139A>G http://identifiers.org/clinvar/224000 ^@ NM_058216.2(RAD51C):c.966-3595A>G http://identifiers.org/clinvar/224001 ^@ NM_058216.2(RAD51C):c.145+853A>G http://identifiers.org/clinvar/224002 ^@ NM_058216.2(RAD51C):c.1026+35T>C http://identifiers.org/clinvar/224003 ^@ NM_058216.2(RAD51C):c.706-426T>C http://identifiers.org/clinvar/224004 ^@ NM_058216.2(RAD51C):c.965+179A>G http://identifiers.org/clinvar/224005 ^@ NM_020630.4(RET):c.1523-236C>G http://identifiers.org/clinvar/224006 ^@ NM_003000.2(SDHB):c.424-170T>G http://identifiers.org/clinvar/224007 ^@ NM_003000.2(SDHB):c.72+1504C>T http://identifiers.org/clinvar/224008 ^@ NM_003000.2(SDHB):c.765+29G>A http://identifiers.org/clinvar/224009 ^@ NM_003000.2(SDHB):c.423+260G>A http://identifiers.org/clinvar/224010 ^@ NM_003000.2(SDHB):c.72+2942G>A http://identifiers.org/clinvar/224011 ^@ NM_003000.2(SDHB):c.643-204G>A http://identifiers.org/clinvar/224012 ^@ NM_003000.2(SDHB):c.287-26A>G http://identifiers.org/clinvar/224013 ^@ NM_003001.3(SDHC):c.180-35C>T http://identifiers.org/clinvar/224014 ^@ NM_003002.3(SDHD):c.314+124T>C http://identifiers.org/clinvar/224015 ^@ NM_003002.3(SDHD):c.52+24G>A http://identifiers.org/clinvar/224016 ^@ NM_005359.5(SMAD4):c.-128+3139C>T http://identifiers.org/clinvar/224017 ^@ NM_005359.5(SMAD4):c.668-1111A>G http://identifiers.org/clinvar/224018 ^@ NM_005359.5(SMAD4):c.787+15T>C http://identifiers.org/clinvar/224019 ^@ NM_005359.5(SMAD4):c.667+299T>C http://identifiers.org/clinvar/224020 ^@ NM_005359.5(SMAD4):c.-127-135A>C http://identifiers.org/clinvar/224021 ^@ NM_005359.5(SMAD4):c.-128+263G>C http://identifiers.org/clinvar/224022 ^@ NM_005359.5(SMAD4):c.-127-3318A>G http://identifiers.org/clinvar/224023 ^@ NM_005359.5(SMAD4):c.-128+540A>G http://identifiers.org/clinvar/224024 ^@ NM_005359.5(SMAD4):c.904+298T>C http://identifiers.org/clinvar/224025 ^@ NM_005359.5(SMAD4):c.250-589A>G http://identifiers.org/clinvar/224026 ^@ NM_005359.5(SMAD4):c.-128+759G>A http://identifiers.org/clinvar/224027 ^@ NM_005359.5(SMAD4):c.-127-4835G>A http://identifiers.org/clinvar/224028 ^@ NM_005359.5(SMAD4):c.667+54T>C http://identifiers.org/clinvar/224029 ^@ NM_005359.5(SMAD4):c.-127-4838G>A http://identifiers.org/clinvar/224030 ^@ NM_005359.5(SMAD4):c.1448-113T>C http://identifiers.org/clinvar/224031 ^@ NM_005359.5(SMAD4):c.1308+623C>T http://identifiers.org/clinvar/224032 ^@ NM_005359.5(SMAD4):c.454+291T>A http://identifiers.org/clinvar/224033 ^@ NM_005359.5(SMAD4):c.-128+1995A>G http://identifiers.org/clinvar/224034 ^@ NM_005359.5(SMAD4):c.455-1921T>G http://identifiers.org/clinvar/224035 ^@ NM_005359.5(SMAD4):c.1308+4116C>T http://identifiers.org/clinvar/224036 ^@ NM_005359.5(SMAD4):c.1308+2398T>G http://identifiers.org/clinvar/224037 ^@ NM_005359.5(SMAD4):c.424+165A>G http://identifiers.org/clinvar/224038 ^@ NM_000455.4(STK11):c.290+3170C>T http://identifiers.org/clinvar/224039 ^@ NM_000455.4(STK11):c.465-429C>T http://identifiers.org/clinvar/224040 ^@ NM_000455.4(STK11):c.1108+580G>T http://identifiers.org/clinvar/224041 ^@ NM_000455.4(STK11):c.290+486C>T http://identifiers.org/clinvar/224042 ^@ NM_000546.5(TP53):c.993+141G>A http://identifiers.org/clinvar/224043 ^@ NM_000546.5(TP53):c.-29+269G>A http://identifiers.org/clinvar/224044 ^@ NM_000551.3(VHL):c.341-1173C>T http://identifiers.org/clinvar/224045 ^@ NM_000551.3(VHL):c.341-1133C>T http://identifiers.org/clinvar/224046 ^@ NM_000551.3(VHL):c.340+20G>A http://identifiers.org/clinvar/224047 ^@ NM_000551.3(VHL):c.341-1135T>C http://identifiers.org/clinvar/224048 ^@ NM_005431.1(XRCC2):c.122-4432A>G http://identifiers.org/clinvar/224049 ^@ NM_005431.1(XRCC2):c.122-4430G>T http://identifiers.org/clinvar/224050 ^@ NM_005431.1(XRCC2):c.39+4550T>C http://identifiers.org/clinvar/224051 ^@ NM_005431.1(XRCC2):c.122-840A>G http://identifiers.org/clinvar/224052 ^@ NM_005431.1(XRCC2):c.39+7425C>T http://identifiers.org/clinvar/224053 ^@ NM_005431.1(XRCC2):c.40-1611G>A http://identifiers.org/clinvar/224058 ^@ NM_000056.4(BCKDHB):c.-67_196del263 http://identifiers.org/clinvar/224057 ^@ NM_183050.3(BCKDHB):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/224056 ^@ NM_183050.3(BCKDHB):c.197-2A>G http://identifiers.org/clinvar/224054 ^@ NM_183050.3(BCKDHB):c.293T>G (p.Val98Gly) http://identifiers.org/clinvar/224060 ^@ NM_183050.3(BCKDHB):c.401T>A (p.Ile134Asn) http://identifiers.org/clinvar/224055 ^@ NM_183050.3(BCKDHB):c.554C>T (p.Pro185Leu) http://identifiers.org/clinvar/224061 ^@ NM_183050.3(BCKDHB):c.964A>G (p.Thr322Ala) http://identifiers.org/clinvar/224059 ^@ NM_183050.3(BCKDHB):c.1065delT (p.Pro356Leufs) http://identifiers.org/clinvar/224062 ^@ NM_006502.2(POLH):c.764+1G>A http://identifiers.org/clinvar/224063 ^@ NM_006502.2(POLH):c.907C>T (p.Arg303Ter) http://identifiers.org/clinvar/224065 ^@ NM_000243.2(MEFV):c.*267G>A http://identifiers.org/clinvar/224064 ^@ NM_000243.2(MEFV):c.*245G>A http://identifiers.org/clinvar/224066 ^@ NM_000243.2(MEFV):c.*133G>A http://identifiers.org/clinvar/224067 ^@ NM_001002841.1(MYL4):c.31G>A (p.Glu11Lys) http://identifiers.org/clinvar/224069 ^@ NM_004134.6(HSPA9):c.409_410delAT (p.Ile137Terfs) http://identifiers.org/clinvar/224070 ^@ NM_004134.6(HSPA9):c.1373_1378delTTAATA (p.Ile458_Asn459del) http://identifiers.org/clinvar/224071 ^@ NM_024769.3(CLMP):c.508C>T (p.Arg170Ter) http://identifiers.org/clinvar/224073 ^@ NM_001918.3(DBT):c.1033G>A (p.Gly345Arg) http://identifiers.org/clinvar/224072 ^@ NM_000709.3(BCKDHA):c.940C>T (p.Arg314Ter) http://identifiers.org/clinvar/224144 ^@ NM_006593.3(TBR1):c.1588_1594dupGGCTGCA (p.Thr532Argfs) http://identifiers.org/clinvar/224138 ^@ NM_014619.4(GRIK4):c.2713_2727delCTGGCGCAGGAGGCCinsGCT (p.Leu905_Glu908del) http://identifiers.org/clinvar/224076 ^@ NM_139058.2(ARX):c.1002_1007delGTTCACinsTGTACCA (p.Phe335Valfs) http://identifiers.org/clinvar/224074 ^@ NM_018486.2(HDAC8):c.737+1G>A http://identifiers.org/clinvar/224075 ^@ NM_007075.3(WDR45):c.976+1G>A http://identifiers.org/clinvar/224077 ^@ NM_001040142.1(SCN2A):c.4468A>G (p.Met1490Val) http://identifiers.org/clinvar/224078 ^@ NM_001040142.1(SCN2A):c.4726G>A (p.Gly1576Arg) http://identifiers.org/clinvar/224079 ^@ NM_003898.3(SYNJ2):c.2557T>C (p.Ser853Pro) http://identifiers.org/clinvar/224080 ^@ NM_017886.3(ULK4):c.2887G>A (p.Val963Met) http://identifiers.org/clinvar/224081 ^@ NM_017886.3(ULK4):c.2584C>T (p.Arg862Ter) http://identifiers.org/clinvar/224082 ^@ NM_017886.3(ULK4):c.2056G>A (p.Val686Ile) http://identifiers.org/clinvar/224083 ^@ NM_004958.3(MTOR):c.5663T>G (p.Phe1888Cys) http://identifiers.org/clinvar/224084 ^@ NM_015678.4(NBEA):c.2836C>T (p.His946Tyr) http://identifiers.org/clinvar/224085 ^@ NM_001005463.2(EBF3):c.530C>T (p.Pro177Leu) http://identifiers.org/clinvar/224086 ^@ NM_000834.3(GRIN2B):c.2053A>C (p.Thr685Pro) http://identifiers.org/clinvar/224087 ^@ NM_006920.4(SCN1A):c.3671delT (p.Leu1224Argfs) http://identifiers.org/clinvar/224088 ^@ NM_004958.3(MTOR):c.4785G>A (p.Met1595Ile) http://identifiers.org/clinvar/224089 ^@ NM_005445.3(SMC3):c.283G>A (p.Glu95Lys) http://identifiers.org/clinvar/224090 ^@ NM_006516.2(SLC2A1):c.517-1G>C http://identifiers.org/clinvar/224091 ^@ NM_007325.4(GRIA3):c.466T>C (p.Tyr156His) http://identifiers.org/clinvar/224092 ^@ NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) http://identifiers.org/clinvar/224093 ^@ NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) http://identifiers.org/clinvar/224094 ^@ NM_006772.2(SYNGAP1):c.3583-6G>A http://identifiers.org/clinvar/224095 ^@ NM_021120.3(DLG3):c.1721G>A (p.Arg574Gln) http://identifiers.org/clinvar/224096 ^@ NM_003737.3(DCHS1):c.4114G>A (p.Gly1372Ser) http://identifiers.org/clinvar/224097 ^@ NM_003737.3(DCHS1):c.3158G>C (p.Trp1053Ser) http://identifiers.org/clinvar/224098 ^@ NM_002547.2(OPHN1):c.2035G>A (p.Asp679Asn) http://identifiers.org/clinvar/224099 ^@ NM_001135659.2(NRXN1):c.3485-110131T>G http://identifiers.org/clinvar/224100 ^@ NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter) http://identifiers.org/clinvar/224101 ^@ NM_006772.2(SYNGAP1):c.3788_3794delTTGGCAG (p.Ile1263Serfs) http://identifiers.org/clinvar/224102 ^@ NM_005650.3(TCF20):c.5385_5386delTG (p.Cys1795Trpfs) http://identifiers.org/clinvar/224103 ^@ NM_012216.3(MID2):c.448G>T (p.Ala150Ser) http://identifiers.org/clinvar/224104 ^@ NM_006516.2(SLC2A1):c.938C>T (p.Ser313Phe) http://identifiers.org/clinvar/224105 ^@ NM_001008222.2(ZDHHC9):c.893G>A (p.Arg298Gln) http://identifiers.org/clinvar/224106 ^@ NM_001008537.2(KIAA2022):c.2999_3000delCT (p.Ser1000Cysfs) http://identifiers.org/clinvar/224107 ^@ NM_003042.3(SLC6A1):c.1352A>G (p.Asp451Gly) http://identifiers.org/clinvar/224108 ^@ NM_000833.4(GRIN2A):c.4375A>G (p.Ser1459Gly) http://identifiers.org/clinvar/224109 ^@ NM_020822.2(KCNT1):c.2729G>A (p.Arg910Gln) http://identifiers.org/clinvar/224110 ^@ NM_020822.2(KCNT1):c.136C>T (p.Leu46Phe) http://identifiers.org/clinvar/224111 ^@ NM_000489.4(ATRX):c.1423C>T (p.His475Tyr) http://identifiers.org/clinvar/224112 ^@ NM_139058.2(ARX):c.166A>G (p.Ser56Gly) http://identifiers.org/clinvar/224113 ^@ NM_033225.5(CSMD1):c.1642A>G (p.Thr548Ala) http://identifiers.org/clinvar/224114 ^@ NM_001047160.2(NET1):c.839A>G (p.Lys280Arg) http://identifiers.org/clinvar/224115 ^@ NM_015335.4(MED13L):c.124dupG (p.Asp42Glyfs) http://identifiers.org/clinvar/224116 ^@ NM_006920.4(SCN1A):c.3969+2451G>C http://identifiers.org/clinvar/224117 ^@ NM_020137.4(GRIPAP1):c.1105G>C (p.Glu369Gln) http://identifiers.org/clinvar/224118 ^@ NM_019109.4(ALG1):c.1187+3A>G http://identifiers.org/clinvar/224119 ^@ NM_001168272.1(ITPR1):c.7739G>A (p.Gly2580Glu) http://identifiers.org/clinvar/224120 ^@ NM_007325.4(GRIA3):c.580G>A (p.Gly194Arg) http://identifiers.org/clinvar/224121 ^@ NM_005334.2(HCFC1):c.5048C>G (p.Pro1683Arg) http://identifiers.org/clinvar/224122 ^@ NM_006912.5(RIT1):c.67A>C (p.Lys23Gln) http://identifiers.org/clinvar/224123 ^@ NM_003124.4(SPR):c.106G>A (p.Val36Met) http://identifiers.org/clinvar/224124 ^@ NM_013450.3(BAZ2B):c.242C>G (p.Ser81Ter) http://identifiers.org/clinvar/224125 ^@ NM_205768.2(ZBTB18):c.160T>C (p.Cys54Arg) http://identifiers.org/clinvar/224126 ^@ NM_014191.3(SCN8A):c.5276A>G (p.Asn1759Ser) http://identifiers.org/clinvar/224127 ^@ NM_012309.4(SHANK2):c.1896dupA (p.Asp633Argfs) http://identifiers.org/clinvar/224128 ^@ NM_021224.5(ZNF462):c.5680T>G (p.Cys1894Gly) http://identifiers.org/clinvar/224129 ^@ NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter) http://identifiers.org/clinvar/224130 ^@ NM_001376.4(DYNC1H1):c.10573C>T (p.Arg3525Cys) http://identifiers.org/clinvar/224131 ^@ NM_015265.3(SATB2):c.1131_1132delGT (p.Ser378Profs) http://identifiers.org/clinvar/224132 ^@ NM_019066.4(MAGEL2):c.3208G>T (p.Glu1070Ter) http://identifiers.org/clinvar/224133 ^@ NM_001083962.1(TCF4):c.850C>T (p.His284Tyr) http://identifiers.org/clinvar/224134 ^@ NM_030632.2(ASXL3):c.1682C>A (p.Ser561Ter) http://identifiers.org/clinvar/224135 ^@ NM_020732.3(ARID1B):c.6100C>T (p.Gln2034Ter) http://identifiers.org/clinvar/224136 ^@ NM_001131005.2(MEF2C):c.71G>A (p.Arg24Lys) http://identifiers.org/clinvar/224137 ^@ NM_014619.4(GRIK4):c.1856G>A (p.Arg619His) http://identifiers.org/clinvar/224139 ^@ NM_005249.4(FOXG1):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/224140 ^@ NM_001271.3(CHD2):c.3787dupG (p.Val1263Glyfs) http://identifiers.org/clinvar/224141 ^@ NM_031844.2(HNRNPU):c.67C>T (p.Arg23Ter) http://identifiers.org/clinvar/224142 ^@ NM_001005336.2(DNM1):c.139G>A (p.Val47Met) http://identifiers.org/clinvar/224143 ^@ NM_001314042.1(KDM5B):c.3835C>T (p.Arg1279Ter) http://identifiers.org/clinvar/224145 ^@ NM_000806.5(GABRA1):c.94C>T (p.Gln32Ter) http://identifiers.org/clinvar/224146 ^@ NM_001040192.2(DNAJC28):c.502G>T (p.Glu168Ter) http://identifiers.org/clinvar/224147 ^@ NM_015570.3(AUTS2):c.1486dupC (p.Gln496Profs) http://identifiers.org/clinvar/224148 ^@ NM_001037442.3(RUFY3):c.763dupG (p.Gln256Serfs) http://identifiers.org/clinvar/224149 ^@ NM_001271.3(CHD2):c.1551delC (p.Gln518Argfs) http://identifiers.org/clinvar/224150 ^@ NM_004958.3(MTOR):c.505-2A>G http://identifiers.org/clinvar/224151 ^@ NM_015836.3(WARS2):c.791A>G (p.Tyr264Cys) http://identifiers.org/clinvar/224152 ^@ NM_015836.3(WARS2):c.715C>T (p.Arg239Ter) http://identifiers.org/clinvar/224153 ^@ NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met) http://identifiers.org/clinvar/224154 ^@ NM_001396.3(DYRK1A):c.1639C>T (p.Gln547Ter) http://identifiers.org/clinvar/224155 ^@ NM_014633.4(CTR9):c.1126G>A (p.Glu376Lys) http://identifiers.org/clinvar/224156 ^@ NM_001143854.1(RPH3A):c.1349C>G (p.Thr450Ser) http://identifiers.org/clinvar/224157 ^@ NM_001244008.1(KIF1A):c.265T>G (p.Tyr89Asp) http://identifiers.org/clinvar/224158 ^@ NM_020732.3(ARID1B):c.2242C>T (p.Gln748Ter) http://identifiers.org/clinvar/224159 ^@ NM_001256182.1(ANKRD11):c.6472G>T (p.Glu2158Ter) http://identifiers.org/clinvar/224160 ^@ NM_004380.2(CREBBP):c.5237G>T (p.Gly1746Val) http://identifiers.org/clinvar/224161 ^@ NM_033517.1(SHANK3):c.1010C>G (p.Thr337Ser) http://identifiers.org/clinvar/224162 ^@ NM_004850.4(ROCK2):c.2140C>T (p.Arg714Ter) http://identifiers.org/clinvar/224168 ^@ NM_017671.4(FERMT1):c.1867_1869delATC (p.Ile623del) http://identifiers.org/clinvar/224182 ^@ NM_017671.4(FERMT1):c.1848G>A (p.Trp616Ter) http://identifiers.org/clinvar/224166 ^@ NM_017671.4(FERMT1):c.1675T>C (p.Trp559Arg) http://identifiers.org/clinvar/224181 ^@ NM_017671.4(FERMT1):c.1383C>A (p.Tyr461Ter) http://identifiers.org/clinvar/224165 ^@ NM_017671.4(FERMT1):c.1198T>C (p.Ser400Pro) http://identifiers.org/clinvar/224180 ^@ NM_017671.4(FERMT1):c.1176T>G (p.Tyr392Ter) http://identifiers.org/clinvar/224179 ^@ NM_017671.4(FERMT1):c.1161delA (p.Ala388Leufs) http://identifiers.org/clinvar/224178 ^@ NM_017671.4(FERMT1):c.1139+740G>A http://identifiers.org/clinvar/224177 ^@ NM_017671.4(FERMT1):c.1139+2T>C http://identifiers.org/clinvar/224176 ^@ NM_017671.4(FERMT1):c.994_995delCA (p.Gln332Glyfs) http://identifiers.org/clinvar/224175 ^@ NM_017671.4(FERMT1):c.958-1G>A http://identifiers.org/clinvar/224174 ^@ NM_017671.4(FERMT1):c.957+1G>A http://identifiers.org/clinvar/224173 ^@ NM_017671.4(FERMT1):c.910G>T (p.Glu304Ter) http://identifiers.org/clinvar/224164 ^@ NM_017671.4(FERMT1):c.889A>G (p.Arg297Gly) http://identifiers.org/clinvar/224171 ^@ NM_017671.4(FERMT1):c.550dupA (p.Ser184Lysfs) http://identifiers.org/clinvar/224170 ^@ NM_017671.4(FERMT1):c.373delT (p.Cys125Alafs) http://identifiers.org/clinvar/224167 ^@ NM_017671.4(FERMT1):c.299_301delGTC (p.Arg100del) http://identifiers.org/clinvar/224169 ^@ NM_017671.4(FERMT1):c.-20A>G http://identifiers.org/clinvar/224172 ^@ NM_017671.4:c.676insC http://identifiers.org/clinvar/224183 ^@ g.-711-1241del http://identifiers.org/clinvar/224184 ^@ g.6109589_6112605del http://identifiers.org/clinvar/224185 ^@ g.6116239_6120157del http://identifiers.org/clinvar/224186 ^@ g.6109607_6112272del http://identifiers.org/clinvar/224187 ^@ NC_000001.11:g.(?_97754673)_(97877131_?)del http://identifiers.org/clinvar/224188 ^@ NC_000001.9:g.(?_144100334)_(144643106_?)del http://identifiers.org/clinvar/224189 ^@ NC_000001.9:g.(?_144100334)_(144605947_?)del http://identifiers.org/clinvar/224190 ^@ NC_000001.9:g.(?_144108801)_(144722446_?)dup http://identifiers.org/clinvar/224191 ^@ NC_000001.9:g.(?_144461364)_(146362307_?)del http://identifiers.org/clinvar/224192 ^@ NC_000001.9:g.(?_144473958)_(146362307_?)del http://identifiers.org/clinvar/224193 ^@ NC_000001.11:g.(?_239538135)_(239561121_?)del http://identifiers.org/clinvar/224194 ^@ NC_000002.11:g.(?_11326144)_(16240708_?)del http://identifiers.org/clinvar/224195 ^@ NC_000002.12:g.(?_50722330)_(50939855_?)del http://identifiers.org/clinvar/224196 ^@ NC_000002.12:g.(?_61374256)_(62493432_?)dup http://identifiers.org/clinvar/224197 ^@ NC_000002.11:g.(?_96738407)_(97742073_?)del http://identifiers.org/clinvar/224198 ^@ NC_000002.12:g.(?_106287425)_(107812162_?)dup http://identifiers.org/clinvar/224199 ^@ NC_000002.12:g.(?_106480385)_(107825992_?)del http://identifiers.org/clinvar/224200 ^@ NC_000002.12:g.(?_130731289)_(131159370_?)del http://identifiers.org/clinvar/224201 ^@ NC_000002.12:g.(?_147994620)_(148348158_?)del http://identifiers.org/clinvar/224202 ^@ NC_000002.12:g.(?_148142676)_(148241722_?)del http://identifiers.org/clinvar/224203 ^@ NC_000002.12:g.(?_148159194)_(148220059_?)del http://identifiers.org/clinvar/224204 ^@ NC_000002.12:g.(?_148216217)_(148405416_?)del http://identifiers.org/clinvar/224205 ^@ NC_000002.12:g.(?_184836884)_(184878387_?)del http://identifiers.org/clinvar/224206 ^@ NC_000003.11:g.(?_41656074)_(41842202_?)del http://identifiers.org/clinvar/224207 ^@ NC_000003.12:g.(?_41769857)_(41857229_?)del http://identifiers.org/clinvar/224208 ^@ NC_000003.12:g.(?_146761458)_(147928224_?)del http://identifiers.org/clinvar/224209 ^@ NC_000003.12:g.(?_196011149)_(197606127_?)del http://identifiers.org/clinvar/224210 ^@ NC_000004.10:g.(?_39053592)_(42081810_?)dup http://identifiers.org/clinvar/224211 ^@ NC_000004.12:g.(?_92933574)_(93091359_?)del http://identifiers.org/clinvar/224212 ^@ NC_000006.10:g.(?_152969177)_(154861420_?)dup http://identifiers.org/clinvar/224213 ^@ NC_000006.12:g.(?_161938086)_(162057600_?)del http://identifiers.org/clinvar/224214 ^@ NC_000006.12:g.(?_161969162)_(162291817_?)del http://identifiers.org/clinvar/224215 ^@ NC_000006.12:g.(?_162146194)_(162225195_?)del http://identifiers.org/clinvar/224216 ^@ NC_000006.12:g.(?_162166741)_(162286579_?)del http://identifiers.org/clinvar/224217 ^@ NC_000006.12:g.(?_162196210)_(162319361_?)del http://identifiers.org/clinvar/224218 ^@ NC_000006.12:g.(?_162207929)_(162418045_?)del http://identifiers.org/clinvar/224219 ^@ NC_000006.12:g.(?_162214214)_(162378344_?)del http://identifiers.org/clinvar/224220 ^@ NC_000006.12:g.(?_162261451)_(162524251_?)del http://identifiers.org/clinvar/224221 ^@ NC_000006.12:g.(?_162266369)_(162427942_?)del http://identifiers.org/clinvar/224222 ^@ NC_000006.12:g.(?_162269073)_(162300745_?)del http://identifiers.org/clinvar/224223 ^@ NC_000006.12:g.(?_162291817)_(162557106_?)del http://identifiers.org/clinvar/224224 ^@ NC_000006.12:g.(?_162310185)_(162626044_?)del http://identifiers.org/clinvar/224225 ^@ NC_000006.12:g.(?_162336301)_(162494561_?)del http://identifiers.org/clinvar/224226 ^@ NC_000006.12:g.(?_162611406)_(162811496_?)del http://identifiers.org/clinvar/224227 ^@ NC_000007.12:g.(?_72365915)_(73776177_?)dup http://identifiers.org/clinvar/224228 ^@ NC_000007.14:g.(?_81485635)_(84094822_?)del http://identifiers.org/clinvar/224229 ^@ NC_000007.14:g.(?_103491957)_(103503126_?)del http://identifiers.org/clinvar/224230 ^@ NC_000007.13:g.(?_110151471)_(112422581_?)dup http://identifiers.org/clinvar/224231 ^@ NC_000007.13:g.(?_158758539)_(158988677_?)dup http://identifiers.org/clinvar/224232 ^@ NC_000008.9:g.(?_2573916)_(4761131_?)del http://identifiers.org/clinvar/224233 ^@ NC_000008.11:g.(?_3409832)_(3514184_?)del http://identifiers.org/clinvar/224234 ^@ NC_000008.11:g.(?_3873830)_(3956386_?)del http://identifiers.org/clinvar/224235 ^@ NC_000008.11:g.(?_3881783)_(3956386_?)del http://identifiers.org/clinvar/224236 ^@ NC_000008.11:g.(?_99057631)_(99225625_?)del http://identifiers.org/clinvar/224237 ^@ NC_000009.11:g.(?_102339410)_(109549354_?)del http://identifiers.org/clinvar/224238 ^@ NC_000009.12:g.(?_116636278)_(116741811_?)del http://identifiers.org/clinvar/224239 ^@ NC_000009.12:g.(?_116690492)_(116873346_?)del http://identifiers.org/clinvar/224240 ^@ NC_000009.12:g.(?_116690492)_(116732787_?)del http://identifiers.org/clinvar/224241 ^@ NC_000010.9:g.(?_3110676)_(6286817_?)dup http://identifiers.org/clinvar/224242 ^@ NC_000010.9:g.(?_46383972)_(51402930_?)dup http://identifiers.org/clinvar/224243 ^@ NC_000011.10:g.(?_84115689)_(84645962_?)del http://identifiers.org/clinvar/224244 ^@ NC_000011.9:g.(?_84525944)_(84693279_?)del http://identifiers.org/clinvar/224245 ^@ NC_000011.10:g.(?_84879064)_(84961400_?)del http://identifiers.org/clinvar/224246 ^@ NC_000011.8:g.(?_118369519)_(134444816_?)dup http://identifiers.org/clinvar/224247 ^@ NC_000012.12:g.(?_2689684)_(2732352_?)del http://identifiers.org/clinvar/224248 ^@ NC_000013.10:g.(?_23544669)_(24893183_?)del http://identifiers.org/clinvar/224249 ^@ NC_000014.9:g.(?_33322195)_(33377295_?)del http://identifiers.org/clinvar/224250 ^@ NC_000014.9:g.(?_78888008)_(79194197_?)del http://identifiers.org/clinvar/224251 ^@ NC_000015.8:g.(?_20214229)_(20737623_?)del http://identifiers.org/clinvar/224252 ^@ NC_000015.8:g.(?_20214229)_(20690583_?)del http://identifiers.org/clinvar/224253 ^@ NC_000015.8:g.(?_20311080)_(20672108_?)del http://identifiers.org/clinvar/224254 ^@ NC_000015.8:g.(?_20311080)_(20636781_?)del http://identifiers.org/clinvar/224255 ^@ NC_000015.8:g.(?_20311080)_(20747796_?)del http://identifiers.org/clinvar/224256 ^@ NC_000015.8:g.(?_20311080)_(20737623_?)del http://identifiers.org/clinvar/224257 ^@ NC_000015.8:g.(?_21144837)_(26726521_?)dup http://identifiers.org/clinvar/224258 ^@ NC_000015.8:g.(?_26866219)_(28542654_?)del http://identifiers.org/clinvar/224259 ^@ NC_000015.8:g.(?_26866219)_(28153380_?)dup http://identifiers.org/clinvar/224260 ^@ NC_000015.9:g.(?_29220618)_(30679040_?)dup http://identifiers.org/clinvar/224261 ^@ NC_000015.9:g.(?_29220618)_(30664963_?)dup http://identifiers.org/clinvar/224262 ^@ NC_000015.9:g.(?_30882901)_(32439053_?)dup http://identifiers.org/clinvar/224263 ^@ NC_000015.9:g.(?_32024200)_(32439053_?)dup http://identifiers.org/clinvar/224264 ^@ NC_000015.9:g.(?_32024200)_(32548462_?)dup http://identifiers.org/clinvar/224265 ^@ NC_000015.9:g.(?_32029601)_(32655281_?)dup http://identifiers.org/clinvar/224266 ^@ NC_000015.8:g.(?_72171336)_(75954661_?)dup http://identifiers.org/clinvar/224267 ^@ NC_000015.9:g.(?_100885379)_(102399948_?)dup http://identifiers.org/clinvar/224268 ^@ NC_000016.9:g.(?_1239945)_(1300070_?)del http://identifiers.org/clinvar/224269 ^@ NC_000016.10:g.(?_6632442)_(7019814_?)del http://identifiers.org/clinvar/224270 ^@ NC_000016.10:g.(?_6664640)_(6742835_?)del http://identifiers.org/clinvar/224271 ^@ NC_000016.10:g.(?_7038520)_(7097699_?)del http://identifiers.org/clinvar/224272 ^@ NC_000016.10:g.(?_15031901)_(16512853_?)dup http://identifiers.org/clinvar/224273 ^@ NC_000016.9:g.(?_15180601)_(18778866_?)dup http://identifiers.org/clinvar/224274 ^@ NC_000016.10:g.(?_15318653)_(16292712_?)dup http://identifiers.org/clinvar/224275 ^@ NC_000016.10:g.(?_15330513)_(16443434_?)del http://identifiers.org/clinvar/224276 ^@ NC_000016.10:g.(?_21939023)_(22424261_?)del http://identifiers.org/clinvar/224277 ^@ NC_000016.10:g.(?_21939023)_(22434144_?)dup http://identifiers.org/clinvar/224278 ^@ NC_000016.10:g.(?_28370872)_(29324276_?)del http://identifiers.org/clinvar/224279 ^@ NC_000016.10:g.(?_29620718)_(30181241_?)dup http://identifiers.org/clinvar/224280 ^@ NC_000016.10:g.(?_29634955)_(30181241_?)dup http://identifiers.org/clinvar/224281 ^@ NC_000016.10:g.(?_29634955)_(30181241_?)del http://identifiers.org/clinvar/224282 ^@ NC_000016.10:g.(?_29646068)_(30181241_?)dup http://identifiers.org/clinvar/224283 ^@ NC_000017.10:g.(?_14083471)_(15420108_?)del http://identifiers.org/clinvar/224284 ^@ NC_000018.10:g.(?_7776842)_(8247510_?)del http://identifiers.org/clinvar/224285 ^@ NC_000018.10:g.(?_47048374)_(47074966_?)del http://identifiers.org/clinvar/224286 ^@ NC_000019.8:g.(?_46811356)_(49506179_?)dup http://identifiers.org/clinvar/224287 ^@ NC_000022.9:g.(?_17024062)_(20056851_?)del http://identifiers.org/clinvar/224288 ^@ NC_000022.9:g.(?_17024062)_(20037371_?)del http://identifiers.org/clinvar/224289 ^@ NC_000022.9:g.(?_17024062)_(20087703_?)del http://identifiers.org/clinvar/224290 ^@ NC_000022.9:g.(?_17025596)_(19365543_?)del http://identifiers.org/clinvar/224291 ^@ NC_000022.9:g.(?_17176197)_(20026630_?)del http://identifiers.org/clinvar/224292 ^@ NC_000022.9:g.(?_17201569)_(19790598_?)del http://identifiers.org/clinvar/224293 ^@ NC_000022.9:g.(?_17227336)_(19896035_?)del http://identifiers.org/clinvar/224294 ^@ NC_000022.9:g.(?_17269529)_(19790598_?)del http://identifiers.org/clinvar/224295 ^@ NC_000022.9:g.(?_17269529)_(19365543_?)del http://identifiers.org/clinvar/224296 ^@ NC_000022.9:g.(?_17269529)_(18691906_?)del http://identifiers.org/clinvar/224297 ^@ NC_000022.9:g.(?_18871966)_(19825156_?)del http://identifiers.org/clinvar/224298 ^@ NC_000022.10:g.(?_20721034)_(21460598_?)del http://identifiers.org/clinvar/224299 ^@ NC_000022.10:g.(?_22320930)_(22566160_?)del http://identifiers.org/clinvar/224300 ^@ NC_000022.10:g.(?_22971580)_(25041986_?)dup http://identifiers.org/clinvar/224301 ^@ NC_000022.10:g.(?_23667751)_(24991609_?)dup http://identifiers.org/clinvar/224302 ^@ NC_000022.10:g.(?_23667751)_(25041986_?)dup http://identifiers.org/clinvar/224303 ^@ NC_000023.9:g.(?_1)_(154913754_?)dup http://identifiers.org/clinvar/224304 ^@ NC_000023.9:g.(?_6329)_(8342481_?)del http://identifiers.org/clinvar/224305 ^@ NC_000023.11:g.(?_6528271)_(8167329_?)del http://identifiers.org/clinvar/224306 ^@ NC_000023.11:g.(?_6528271)_(8151196_?)dup http://identifiers.org/clinvar/224307 ^@ NC_000023.11:g.(?_6535136)_(8151196_?)dup http://identifiers.org/clinvar/224308 ^@ NC_000023.11:g.(?_6538718)_(8151196_?)del http://identifiers.org/clinvar/224309 ^@ NC_000023.11:g.(?_6538718)_(8151196_?)dup http://identifiers.org/clinvar/224310 ^@ NC_000023.11:g.(?_6768943)_(7796577_?)dup http://identifiers.org/clinvar/224311 ^@ NC_000023.11:g.(?_6780568)_(7922451_?)del http://identifiers.org/clinvar/224312 ^@ NC_000023.11:g.(?_31776993)_(31852470_?)del http://identifiers.org/clinvar/224313 ^@ NC_000023.9:g.(?_109211561)_(114336714_?)dup http://identifiers.org/clinvar/224314 ^@ NC_000023.11:g.(?_155532402)_(155554623_?)del http://identifiers.org/clinvar/224315 ^@ NC_000023.9:g.(?_154535668)_(154840791_?)del http://identifiers.org/clinvar/224316 ^@ NM_017819.3(TRMT10C):c.542G>T (p.Arg181Leu) http://identifiers.org/clinvar/224317 ^@ NM_017819.3(TRMT10C):c.814A>G (p.Thr272Ala) http://identifiers.org/clinvar/224322 ^@ NM_000287.3(PEX6):c.2714G>T (p.Cys905Phe) http://identifiers.org/clinvar/224323 ^@ NM_000287.3(PEX6):c.1715C>T (p.Thr572Ile) http://identifiers.org/clinvar/224321 ^@ NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs) http://identifiers.org/clinvar/224318 ^@ NM_000287.3(PEX6):c.654C>G (p.Phe218Leu) http://identifiers.org/clinvar/224320 ^@ NM_000287.3(PEX6):c.296G>T (p.Arg99Leu) http://identifiers.org/clinvar/224319 ^@ NM_000287.3(PEX6):c.275T>G (p.Val92Gly) http://identifiers.org/clinvar/224325 ^@ NM_000466.2(PEX1):c.2966T>C (p.Ile989Thr) http://identifiers.org/clinvar/224324 ^@ NM_000466.2(PEX1):c.1792delA (p.Thr598Glnfs) http://identifiers.org/clinvar/224327 ^@ NM_030657.3(LIM2):c.587G>A (p.Gly196Glu) http://identifiers.org/clinvar/224328 ^@ NM_004134.6(HSPA9):c.376C>T (p.Arg126Trp) http://identifiers.org/clinvar/224329 ^@ NM_004134.6(HSPA9):c.383A>G (p.Tyr128Cys) http://identifiers.org/clinvar/224330 ^@ NM_004134.6(HSPA9):c.882_883delAG (p.Val296Terfs) http://identifiers.org/clinvar/224331 ^@ NM_015544.2(TMEM98):c.587A>C (p.His196Pro) http://identifiers.org/clinvar/224332 ^@ NM_015544.2(TMEM98):c.236_263+6del34 http://identifiers.org/clinvar/224333 ^@ NM_015041.2(CLUAP1):c.817C>T (p.Leu273Phe) http://identifiers.org/clinvar/224340 ^@ NM_004284.5(CHD1L):c.707G>A (p.Arg236His) http://identifiers.org/clinvar/224341 ^@ NM_001256338.2(CHD1L):c.1594A>G (p.Ile532Val) http://identifiers.org/clinvar/224339 ^@ NM_001256338.2(CHD1L):c.1666G>A (p.Ala556Thr) http://identifiers.org/clinvar/224359 ^@ NM_015375.2(DSTYK):c.2368C>T (p.Arg790Cys) http://identifiers.org/clinvar/224360 ^@ NM_199462.2(DSTYK):c.1819-3C>T http://identifiers.org/clinvar/224356 ^@ NM_199462.2(DSTYK):c.1775G>A (p.Arg592Gln) http://identifiers.org/clinvar/224361 ^@ NM_015375.2(DSTYK):c.1253A>G (p.Asp418Gly) http://identifiers.org/clinvar/224357 ^@ NM_015375.2(DSTYK):c.358G>A (p.Asp120Asn) http://identifiers.org/clinvar/224358 ^@ NM_199462.2(DSTYK):c.53C>T (p.Pro18Leu) http://identifiers.org/clinvar/224349 ^@ NM_016932.4(SIX2):c.707C>T (p.Pro236Leu) http://identifiers.org/clinvar/224347 ^@ NM_001128929.3(ROBO2):c.97G>T (p.Gly33Ter) http://identifiers.org/clinvar/224346 ^@ NM_002942.4(ROBO2):c.335C>T (p.Ala112Val) http://identifiers.org/clinvar/224345 ^@ NM_002942.4(ROBO2):c.2431C>T (p.Arg811Trp) http://identifiers.org/clinvar/224352 ^@ NM_019105.6(TNXB):c.12506G>A (p.Arg4169His) http://identifiers.org/clinvar/224353 ^@ NM_019105.6(TNXB):c.10039G>A (p.Ala3347Thr) http://identifiers.org/clinvar/224338 ^@ NM_001253.3(CDC5L):c.1802A>G (p.Lys601Arg) http://identifiers.org/clinvar/224355 ^@ NM_003988.4(PAX2):c.511T>C (p.Ser171Pro) http://identifiers.org/clinvar/224354 ^@ NM_020975.4(RET):c.1201A>T (p.Ser401Cys) http://identifiers.org/clinvar/224343 ^@ NM_002968.2(SALL1):c.469_477delAGCAGCAGC (p.Ser157_Ser159del) http://identifiers.org/clinvar/224342 ^@ NM_002968.2(SALL1):c.130G>A (p.Val44Ile) http://identifiers.org/clinvar/224334 ^@ NM_000458.3(HNF1B):c.1132dupC (p.Gln378Profs) http://identifiers.org/clinvar/224344 ^@ NM_175875.4(SIX5):c.1261G>A (p.Val421Ile) http://identifiers.org/clinvar/224336 ^@ NM_001719.2(BMP7):c.900C>G (p.Ser300Arg) http://identifiers.org/clinvar/224335 ^@ NM_001719.2(BMP7):c.752C>T (p.Thr251Met) http://identifiers.org/clinvar/224337 ^@ NM_001719.2(BMP7):c.334A>G (p.Ser112Gly) http://identifiers.org/clinvar/224348 ^@ NM_001167574.1(UPK3A):c.202G>A (p.Asp68Asn) http://identifiers.org/clinvar/224350 ^@ NM_000216.3(ANOS1):c.2015A>G (p.His672Arg) http://identifiers.org/clinvar/224351 ^@ NM_000216.3(ANOS1):c.404C>T (p.Pro135Leu) http://identifiers.org/clinvar/224362 ^@ NM_000540.2(RYR1):c.89A>T (p.Glu30Val) http://identifiers.org/clinvar/224363 ^@ NM_000540.2(RYR1):c.376A>G (p.Met126Val) http://identifiers.org/clinvar/224364 ^@ NM_000540.2(RYR1):c.1099C>T (p.Arg367Trp) http://identifiers.org/clinvar/224365 ^@ NM_000540.2(RYR1):c.1384G>A (p.Glu462Lys) http://identifiers.org/clinvar/224366 ^@ NM_000540.2(RYR1):c.1474C>T (p.Arg492Cys) http://identifiers.org/clinvar/224367 ^@ NM_000540.2(RYR1):c.1661A>G (p.Glu554Gly) http://identifiers.org/clinvar/224368 ^@ NM_000540.2(RYR1):c.1753A>G (p.Ile585Val) http://identifiers.org/clinvar/224411 ^@ NM_000540.2(RYR1):c.1808_1823del16 (p.Cys603Leufs) http://identifiers.org/clinvar/224369 ^@ NM_000540.2(RYR1):c.2075C>T (p.Thr692Ile) http://identifiers.org/clinvar/224370 ^@ NM_000540.2(RYR1):c.2173G>A (p.Val725Met) http://identifiers.org/clinvar/224371 ^@ NM_000540.2(RYR1):c.2255C>T (p.Pro752Leu) http://identifiers.org/clinvar/224372 ^@ NM_000540.2(RYR1):c.2461C>A (p.His821Asn) http://identifiers.org/clinvar/224373 ^@ NM_000540.2(RYR1):c.2467G>C (p.Glu823Gln) http://identifiers.org/clinvar/224374 ^@ NM_000540.2(RYR1):c.2533C>T (p.Leu845Phe) http://identifiers.org/clinvar/224375 ^@ NM_000540.2(RYR1):c.2697C>A (p.Asn899Lys) http://identifiers.org/clinvar/224376 ^@ NM_000540.2(RYR1):c.2812G>A (p.Val938Met) http://identifiers.org/clinvar/224377 ^@ NM_000540.2(RYR1):c.2822C>T (p.Ala941Val) http://identifiers.org/clinvar/224378 ^@ NM_000540.2(RYR1):c.2824G>A (p.Asp942Asn) http://identifiers.org/clinvar/224379 ^@ NM_000540.2(RYR1):c.3431C>T (p.Pro1144Leu) http://identifiers.org/clinvar/224380 ^@ NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) http://identifiers.org/clinvar/224381 ^@ NM_000540.2(RYR1):c.5308T>G (p.Ser1770Ala) http://identifiers.org/clinvar/224382 ^@ NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) http://identifiers.org/clinvar/224383 ^@ NM_000540.2(RYR1):c.5980C>T (p.Arg1994Cys) http://identifiers.org/clinvar/224384 ^@ NM_000540.2(RYR1):c.6191T>G (p.Met2064Arg) http://identifiers.org/clinvar/224385 ^@ NM_000540.2(RYR1):c.6301A>G (p.Met2101Val) http://identifiers.org/clinvar/224386 ^@ NM_000540.2(RYR1):c.6607A>G (p.Met2203Val) http://identifiers.org/clinvar/224387 ^@ NM_000540.2(RYR1):c.6670C>T (p.Arg2224Cys) http://identifiers.org/clinvar/224388 ^@ NM_000540.2(RYR1):c.6688A>T (p.Thr2230Ser) http://identifiers.org/clinvar/224389 ^@ NM_000540.2(RYR1):c.6700C>T (p.Arg2234Cys) http://identifiers.org/clinvar/224390 ^@ NM_000540.2(RYR1):c.7902C>A (p.Asn2634Lys) http://identifiers.org/clinvar/224391 ^@ NM_000540.2(RYR1):c.7958A>G (p.Lys2653Arg) http://identifiers.org/clinvar/224392 ^@ NM_000540.2(RYR1):c.8113G>A (p.Ala2705Thr) http://identifiers.org/clinvar/224393 ^@ NM_000540.2(RYR1):c.8155T>C (p.Tyr2719His) http://identifiers.org/clinvar/224410 ^@ NM_000540.2(RYR1):c.8231+1G>A http://identifiers.org/clinvar/224394 ^@ NM_000540.2(RYR1):c.9347C>T (p.Ser3116Leu) http://identifiers.org/clinvar/224395 ^@ NM_000540.2(RYR1):c.9800C>T (p.Pro3267Leu) http://identifiers.org/clinvar/224396 ^@ NM_000540.2(RYR1):c.10046C>G (p.Ala3349Gly) http://identifiers.org/clinvar/224397 ^@ NM_000540.2(RYR1):c.10183C>T (p.Arg3395Trp) http://identifiers.org/clinvar/224398 ^@ NM_000540.2(RYR1):c.10492C>G (p.Arg3498Gly) http://identifiers.org/clinvar/224399 ^@ NM_000540.2(RYR1):c.10664A>T (p.Asn3555Ile) http://identifiers.org/clinvar/224400 ^@ NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys) http://identifiers.org/clinvar/224401 ^@ NM_000540.2(RYR1):c.11731A>G (p.Thr3911Ala) http://identifiers.org/clinvar/224402 ^@ NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) http://identifiers.org/clinvar/224403 ^@ NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) http://identifiers.org/clinvar/224404 ^@ NM_000540.2(RYR1):c.14167C>T (p.Arg4723Cys) http://identifiers.org/clinvar/224405 ^@ NM_000540.2(RYR1):c.14189G>T (p.Gly4730Val) http://identifiers.org/clinvar/224406 ^@ NM_000540.2(RYR1):c.14901C>G (p.Asp4967Glu) http://identifiers.org/clinvar/224407 ^@ NM_000540.2(RYR1):c.14915C>T (p.Thr4972Ile) http://identifiers.org/clinvar/224408 ^@ NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln) http://identifiers.org/clinvar/224409 ^@ NM_000540.2(RYR1):c.15098A>G (p.Tyr5033Cys) http://identifiers.org/clinvar/224412 ^@ NM_001100.3(ACTA1):c.591G>T (p.Glu197Asp) http://identifiers.org/clinvar/224413 ^@ NM_032608.6(MYO18B):c.6496G>T (p.Glu2166Ter) http://identifiers.org/clinvar/224414 ^@ NM_002834.4(PTPN11):c.205G>A (p.Glu69Lys) http://identifiers.org/clinvar/224415 ^@ NM_002834.4(PTPN11):c.272A>G (p.Lys91Arg) http://identifiers.org/clinvar/224450 ^@ NM_000059.3(BRCA2):c.67+1G>C http://identifiers.org/clinvar/224451 ^@ NM_000059.3(BRCA2):c.92G>T (p.Trp31Leu) http://identifiers.org/clinvar/224438 ^@ NM_000059.3(BRCA2):c.161delA (p.Asn54Thrfs) http://identifiers.org/clinvar/224452 ^@ NM_000059.3(BRCA2):c.171C>T (p.Tyr57=) http://identifiers.org/clinvar/224454 ^@ NM_000059.3(BRCA2):c.454A>G (p.Thr152Ala) http://identifiers.org/clinvar/224453 ^@ NM_000059.3(BRCA2):c.461A>G (p.Gln154Arg) http://identifiers.org/clinvar/224439 ^@ NM_000059.3(BRCA2):c.1190_1197delAACTAACC (p.Gln397Profs) http://identifiers.org/clinvar/224455 ^@ NM_000059.3(BRCA2):c.1211A>G (p.Asn404Ser) http://identifiers.org/clinvar/224457 ^@ NM_000059.3(BRCA2):c.1462A>G (p.Ile488Val) http://identifiers.org/clinvar/224459 ^@ NM_000059.3(BRCA2):c.1511C>G (p.Ser504Cys) http://identifiers.org/clinvar/224456 ^@ NM_000059.3(BRCA2):c.1591A>G (p.Lys531Glu) http://identifiers.org/clinvar/224458 ^@ NM_000059.3(BRCA2):c.1786G>A (p.Asp596Asn) http://identifiers.org/clinvar/224467 ^@ NM_000059.3(BRCA2):c.2136G>T (p.Leu712=) http://identifiers.org/clinvar/224443 ^@ NM_000059.3(BRCA2):c.3001delT (p.Ser1001Glnfs) http://identifiers.org/clinvar/224463 ^@ NM_000059.3(BRCA2):c.3052A>C (p.Lys1018Gln) http://identifiers.org/clinvar/224460 ^@ NM_000059.3(BRCA2):c.3473A>G (p.Glu1158Gly) http://identifiers.org/clinvar/224468 ^@ NM_000059.3(BRCA2):c.3475T>G (p.Cys1159Gly) http://identifiers.org/clinvar/224445 ^@ NM_000059.3(BRCA2):c.3834_3835delTA (p.His1278Glnfs) http://identifiers.org/clinvar/224442 ^@ NM_000059.3(BRCA2):c.4041_4042delTT (p.Cys1348Tyrfs) http://identifiers.org/clinvar/224441 ^@ NM_000059.3(BRCA2):c.4148_4149delAT (p.Asp1383Valfs) http://identifiers.org/clinvar/224469 ^@ NM_000059.3(BRCA2):c.4548C>G (p.Ile1516Met) http://identifiers.org/clinvar/224444 ^@ NM_000059.3(BRCA2):c.5206C>T (p.Gln1736Ter) http://identifiers.org/clinvar/224461 ^@ NM_000059.3(BRCA2):c.5345A>G (p.Gln1782Arg) http://identifiers.org/clinvar/224465 ^@ NM_000059.3(BRCA2):c.5487G>T (p.Leu1829Phe) http://identifiers.org/clinvar/224466 ^@ NM_000059.3(BRCA2):c.6235G>T (p.Val2079Leu) http://identifiers.org/clinvar/224464 ^@ NM_000059.3(BRCA2):c.6256A>G (p.Ile2086Val) http://identifiers.org/clinvar/224440 ^@ NM_000059.3(BRCA2):c.6532dupC (p.His2178Profs) http://identifiers.org/clinvar/224462 ^@ NM_000059.3(BRCA2):c.6598T>C (p.Phe2200Leu) http://identifiers.org/clinvar/224471 ^@ NM_000059.3(BRCA2):c.7509C>T (p.Val2503=) http://identifiers.org/clinvar/224470 ^@ NM_000059.3(BRCA2):c.7545A>G (p.Thr2515=) http://identifiers.org/clinvar/224472 ^@ NM_000059.3(BRCA2):c.7672G>C (p.Glu2558Gln) http://identifiers.org/clinvar/224473 ^@ NM_000059.3(BRCA2):c.7967T>C (p.Leu2656Pro) http://identifiers.org/clinvar/224474 ^@ NM_000059.3(BRCA2):c.8329A>G (p.Lys2777Glu) http://identifiers.org/clinvar/224475 ^@ NM_000059.3(BRCA2):c.8500A>G (p.Thr2834Ala) http://identifiers.org/clinvar/224447 ^@ NM_000059.3(BRCA2):c.9011delA (p.Lys3004Argfs) http://identifiers.org/clinvar/224477 ^@ NM_000059.3(BRCA2):c.9014G>C (p.Arg3005Thr) http://identifiers.org/clinvar/224476 ^@ NM_000059.3(BRCA2):c.9020G>A (p.Arg3007Lys) http://identifiers.org/clinvar/224448 ^@ NM_000059.3(BRCA2):c.9318G>A (p.Trp3106Ter) http://identifiers.org/clinvar/224449 ^@ NM_000059.3(BRCA2):c.9753delG (p.Lys3251Asnfs) http://identifiers.org/clinvar/224478 ^@ NM_000059.3(BRCA2):c.10150C>G (p.Arg3384Gly) http://identifiers.org/clinvar/224437 ^@ NM_007294.3(BRCA1):c.5562delG (p.Ile1855Tyrfs) http://identifiers.org/clinvar/224436 ^@ NM_007294.3(BRCA1):c.4803A>G (p.Lys1601=) http://identifiers.org/clinvar/224423 ^@ NM_007294.3(BRCA1):c.4755delA (p.Glu1586Serfs) http://identifiers.org/clinvar/224424 ^@ NM_007294.3(BRCA1):c.4712delT (p.Phe1571Serfs) http://identifiers.org/clinvar/224435 ^@ NM_007294.3(BRCA1):c.4704C>T (p.Ile1568=) http://identifiers.org/clinvar/224434 ^@ NM_007294.3(BRCA1):c.4189A>C (p.Arg1397=) http://identifiers.org/clinvar/224433 ^@ NM_007294.3(BRCA1):c.4159T>C (p.Ser1387Pro) http://identifiers.org/clinvar/224422 ^@ NM_007294.3(BRCA1):c.4069_4070insTTGA (p.Glu1357Valfs) http://identifiers.org/clinvar/224418 ^@ NM_007294.3(BRCA1):c.3819_3823delGGTAA (p.Gln1273Hisfs) http://identifiers.org/clinvar/224431 ^@ NM_007294.3(BRCA1):c.3071G>C (p.Ser1024Thr) http://identifiers.org/clinvar/224421 ^@ NM_007294.3(BRCA1):c.2570T>A (p.Leu857Ter) http://identifiers.org/clinvar/224420 ^@ NM_007294.3(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853Phefs) http://identifiers.org/clinvar/224428 ^@ NM_007294.3(BRCA1):c.2268G>T (p.Arg756Ser) http://identifiers.org/clinvar/224430 ^@ NM_007294.3(BRCA1):c.1819A>G (p.Lys607Glu) http://identifiers.org/clinvar/224419 ^@ NM_007294.3(BRCA1):c.1299dupC (p.Ser434Glnfs) http://identifiers.org/clinvar/224429 ^@ NM_007294.3(BRCA1):c.837T>C (p.His279=) http://identifiers.org/clinvar/224432 ^@ NM_007294.3(BRCA1):c.744C>G (p.Thr248=) http://identifiers.org/clinvar/224417 ^@ NM_007294.3(BRCA1):c.519delT (p.Gln174Lysfs) http://identifiers.org/clinvar/224426 ^@ NM_007294.3(BRCA1):c.213-2A>G http://identifiers.org/clinvar/224427 ^@ NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) http://identifiers.org/clinvar/224416 ^@ NM_007294.3(BRCA1):c.81_134del54 (p.Cys27_Ile379delinsTer) http://identifiers.org/clinvar/224425 ^@ NM_007294.3(BRCA1):c.4677_5075del http://identifiers.org/clinvar/224446 ^@ NM_000059.3(BRCA2):c.8633_8755del http://identifiers.org/clinvar/224486 ^@ NM_014625.3(NPHS2):c.*428A>G http://identifiers.org/clinvar/224485 ^@ NM_014625.3(NPHS2):c.*258A>G http://identifiers.org/clinvar/224484 ^@ NM_014625.3(NPHS2):c.*200G>A http://identifiers.org/clinvar/224483 ^@ NM_014625.3(NPHS2):c.*157G>A http://identifiers.org/clinvar/224482 ^@ NM_014625.3(NPHS2):c.812C>T (p.Pro271Leu) http://identifiers.org/clinvar/224481 ^@ NM_014625.3(NPHS2):c.115C>T (p.Gln39Ter) http://identifiers.org/clinvar/224479 ^@ NM_024426.4(WT1):c.1250-32C>A http://identifiers.org/clinvar/224480 ^@ NM_024426.4(WT1):c.1250-52G>T http://identifiers.org/clinvar/224488 ^@ NM_203447.3(DOCK8):c.6019dupT (p.Tyr2007Leufs) http://identifiers.org/clinvar/224487 ^@ NC_000009.11:g.204193_343954del139762 http://identifiers.org/clinvar/224496 ^@ NM_022786.2(ARV1):c.294+1G>A http://identifiers.org/clinvar/224498 ^@ NM_019108.3(SMG9):c.701+4A>G http://identifiers.org/clinvar/224497 ^@ NM_019108.3(SMG9):c.520_521delCC (p.Pro174Argfs) http://identifiers.org/clinvar/224500 ^@ NM_016343.3(CENPF):c.2734G>T (p.Glu912Ter) http://identifiers.org/clinvar/224501 ^@ NM_016343.3(CENPF):c.171_199del29 (p.Asn57Lysfs) http://identifiers.org/clinvar/224502 ^@ NM_016343.3(CENPF):c.9280C>T (p.Arg3094Ter) http://identifiers.org/clinvar/224505 ^@ NM_006493.2(CLN5):c.694C>T (p.Gln232Ter) http://identifiers.org/clinvar/242436 ^@ NM_007347.4(AP4E1):c.2401G>A (p.Glu801Lys) http://identifiers.org/clinvar/242435 ^@ NM_007347.4(AP4E1):c.1549G>A (p.Val517Ile) http://identifiers.org/clinvar/224507 ^@ NM_032985.4(SEC23B):c.1781T>G (p.Val594Gly) http://identifiers.org/clinvar/224509 ^@ NM_001025616.2(ARHGAP24):c.473A>G (p.Gln158Arg) http://identifiers.org/clinvar/224510 ^@ NM_016417.2(GLRX5):c.301A>C (p.Lys101Gln) http://identifiers.org/clinvar/224511 ^@ NM_016417.2(GLRX5):c.443T>C (p.Leu148Ser) http://identifiers.org/clinvar/224512 ^@ NM_016417.2(GLRX5):c.151_153delAAG (p.Lys51del) http://identifiers.org/clinvar/224513 ^@ NM_016417.2(GLRX5):c.86_93dupTGCGGGCG (p.Ala32Cysfs) http://identifiers.org/clinvar/224514 ^@ NM_212552.2(BOLA3):c.136C>T (p.Arg46Ter) http://identifiers.org/clinvar/224537 ^@ NM_001128425.1(MUTYH):c.1101_1119del19 (p.Arg368Profs) http://identifiers.org/clinvar/224571 ^@ NM_182625.4(GEN1):c.953+4A>G http://identifiers.org/clinvar/224570 ^@ NM_182625.4(GEN1):c.1202G>A (p.Arg401Gln) http://identifiers.org/clinvar/224575 ^@ NM_000251.2(MSH2):c.1191A>T (p.Gln397His) http://identifiers.org/clinvar/224533 ^@ NM_000251.2(MSH2):c.1201_1202dupTT (p.Leu401Phefs) http://identifiers.org/clinvar/224576 ^@ NM_000251.2(MSH2):c.1659C>T (p.Asn553=) http://identifiers.org/clinvar/224577 ^@ NM_000251.2(MSH2):c.1796T>C (p.Leu599Ser) http://identifiers.org/clinvar/224584 ^@ NM_000179.2(MSH6):c.44C>T (p.Pro15Leu) http://identifiers.org/clinvar/224578 ^@ NM_000179.2(MSH6):c.1046A>G (p.Gln349Arg) http://identifiers.org/clinvar/224579 ^@ NM_000179.2(MSH6):c.1184C>T (p.Thr395Ile) http://identifiers.org/clinvar/224534 ^@ NM_000179.2(MSH6):c.1352delT (p.Phe451Serfs) http://identifiers.org/clinvar/224580 ^@ NM_000179.2(MSH6):c.1847C>G (p.Ser616Cys) http://identifiers.org/clinvar/224581 ^@ NM_000179.2(MSH6):c.2210C>T (p.Ala737Val) http://identifiers.org/clinvar/224582 ^@ NM_000179.2(MSH6):c.2701C>A (p.Arg901Ser) http://identifiers.org/clinvar/224535 ^@ NM_000179.2(MSH6):c.2848_2849delAG (p.Ser950Profs) http://identifiers.org/clinvar/224583 ^@ NM_000179.2(MSH6):c.3610G>A (p.Ala1204Thr) http://identifiers.org/clinvar/224573 ^@ NM_000249.3(MLH1):c.1668-?_2103+?dup http://identifiers.org/clinvar/224560 ^@ NM_001184.3(ATR):c.7220G>A (p.Arg2407His) http://identifiers.org/clinvar/224559 ^@ NM_001184.3(ATR):c.4957C>T (p.Arg1653Ter) http://identifiers.org/clinvar/224558 ^@ NM_001184.3(ATR):c.3952delC (p.Leu1318Terfs) http://identifiers.org/clinvar/224532 ^@ NM_000249.3(MLH1):c.25_26delCGinsTA (p.Arg9Ter) http://identifiers.org/clinvar/224531 ^@ NM_000249.3(MLH1):c.545G>C (p.Arg182Thr) http://identifiers.org/clinvar/224520 ^@ NM_004656.3(BAP1):c.1063C>T (p.Gln355Ter) http://identifiers.org/clinvar/224568 ^@ NM_139076.2(FAM175A):c.712delC (p.Gln238Lysfs) http://identifiers.org/clinvar/224515 ^@ NM_000038.5(APC):c.562C>T (p.Gln188Ter) http://identifiers.org/clinvar/224556 ^@ NM_000038.5(APC):c.920A>T (p.His307Leu) http://identifiers.org/clinvar/224553 ^@ NM_000038.5(APC):c.3080A>G (p.Tyr1027Cys) http://identifiers.org/clinvar/224554 ^@ NM_000038.5(APC):c.7235A>G (p.Lys2412Arg) http://identifiers.org/clinvar/224555 ^@ NM_000038.5(APC):c.8513dupA (p.Tyr2838Terfs) http://identifiers.org/clinvar/224530 ^@ NM_001903.4(CTNNA1):c.195_198delTGAA (p.Glu66Lysfs) http://identifiers.org/clinvar/224567 ^@ NM_001903.4(CTNNA1):c.1185G>A (p.Leu395=) http://identifiers.org/clinvar/224594 ^@ NM_005431.1(XRCC2):c.122-?_*(1_?)del http://identifiers.org/clinvar/224585 ^@ NM_000535.6(PMS2):c.1703C>G (p.Pro568Arg) http://identifiers.org/clinvar/224541 ^@ NM_000535.6(PMS2):c.1500delC (p.Val501Trpfs) http://identifiers.org/clinvar/224586 ^@ NM_000535.6(PMS2):c.890G>C (p.Cys297Ser) http://identifiers.org/clinvar/224565 ^@ NM_000077.4(CDKN2A):c.457+929C>T http://identifiers.org/clinvar/224569 ^@ NM_024642.4(GALNT12):c.907G>A (p.Asp303Asn) http://identifiers.org/clinvar/224522 ^@ NM_004329.2(BMPR1A):c.-152-?_1473+?del http://identifiers.org/clinvar/224521 ^@ NM_004329.2(BMPR1A):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/224552 ^@ NM_004329.2(BMPR1A):c.286_289dupTTAG (p.Ala97Valfs) http://identifiers.org/clinvar/224561 ^@ NM_004329.2(BMPR1A):c.1508G>A (p.Cys503Tyr) http://identifiers.org/clinvar/224545 ^@ NM_000314.6(PTEN):c.118G>T (p.Glu40Ter) http://identifiers.org/clinvar/224542 ^@ NM_000314.6(PTEN):c.344A>G (p.Asp115Gly) http://identifiers.org/clinvar/224543 ^@ NM_000314.6(PTEN):c.408T>G (p.Cys136Trp) http://identifiers.org/clinvar/224546 ^@ NM_000314.6(PTEN):c.424delC (p.Arg142Glyfs) http://identifiers.org/clinvar/224544 ^@ NM_000314.6(PTEN):c.486C>G (p.Asp162Glu) http://identifiers.org/clinvar/224547 ^@ NM_000314.6(PTEN):c.767_768delAG (p.Glu256Valfs) http://identifiers.org/clinvar/224517 ^@ NM_000051.3(ATM):c.-30-1G>T http://identifiers.org/clinvar/224518 ^@ NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) http://identifiers.org/clinvar/224519 ^@ NM_000051.3(ATM):c.5762+1G>T http://identifiers.org/clinvar/224557 ^@ NM_000051.3(ATM):c.7788+3A>T http://identifiers.org/clinvar/224566 ^@ NM_001114122.2(CHEK1):c.1135C>T (p.Arg379Ter) http://identifiers.org/clinvar/224574 ^@ NM_005590.3(MRE11):c.229G>T (p.Glu77Ter) http://identifiers.org/clinvar/224587 ^@ NM_006231.3(POLE):c.1274A>G (p.Lys425Arg) http://identifiers.org/clinvar/224590 ^@ NM_006231.3(POLE):c.941C>G (p.Ser314Ter) http://identifiers.org/clinvar/224589 ^@ NM_006231.3(POLE):c.940T>G (p.Ser314Ala) http://identifiers.org/clinvar/224588 ^@ NM_006231.3(POLE):c.844C>T (p.Pro282Ser) http://identifiers.org/clinvar/224523 ^@ NM_000059.3(BRCA2):c.3689_3690delCT (p.Ser1230Tyrfs) http://identifiers.org/clinvar/224524 ^@ NM_000059.3(BRCA2):c.8419_8428delTCGCTTTTCA (p.Ser2807Valfs) http://identifiers.org/clinvar/224591 ^@ NM_002877.5(RAD51B):c.139C>T (p.Arg47Ter) http://identifiers.org/clinvar/224592 ^@ NM_002877.5(RAD51B):c.452+3A>G http://identifiers.org/clinvar/224572 ^@ NM_013372.6(GREM1):c.273A>G (p.Arg91=) http://identifiers.org/clinvar/224540 ^@ NM_024675.3(PALB2):c.3186delA (p.Ala1063Profs) http://identifiers.org/clinvar/224539 ^@ NM_024675.3(PALB2):c.2391delA (p.Gln797Hisfs) http://identifiers.org/clinvar/224538 ^@ NM_024675.3(PALB2):c.1163delC (p.Pro388Leufs) http://identifiers.org/clinvar/224528 ^@ NM_004360.4(CDH1):c.1064delT (p.Leu355Terfs) http://identifiers.org/clinvar/224529 ^@ NM_004360.4(CDH1):c.1505delG (p.Gly502Alafs) http://identifiers.org/clinvar/224564 ^@ NM_004360.4(CDH1):c.1937-383A>G http://identifiers.org/clinvar/224562 ^@ NM_007294.3(BRCA1):c.301+6T>C http://identifiers.org/clinvar/224527 ^@ NM_032043.2(BRIP1):c.2576-2A>G http://identifiers.org/clinvar/224526 ^@ NM_032043.2(BRIP1):c.1475delG (p.Gly492Aspfs) http://identifiers.org/clinvar/224563 ^@ NM_032043.2(BRIP1):c.1340+5G>C http://identifiers.org/clinvar/224551 ^@ NM_000546.5(TP53):c.202G>T (p.Glu68Ter) http://identifiers.org/clinvar/224549 ^@ NM_005359.5(SMAD4):c.(?_-538)_1139+?del http://identifiers.org/clinvar/224548 ^@ NM_005359.5(SMAD4):c.886_895delCCCCATCCCG (p.Pro296Aspfs) http://identifiers.org/clinvar/224550 ^@ NM_000455.4(STK11):c.(?_-1)_920+?del http://identifiers.org/clinvar/224516 ^@ chr5:112154359-112155228 complex variant http://identifiers.org/clinvar/224595 ^@ NM_004174.3(SLC9A3):c.932C>T (p.Ala311Val) http://identifiers.org/clinvar/224596 ^@ NM_004174.3(SLC9A3):c.350_352delTCT (p.Phe117del) http://identifiers.org/clinvar/224597 ^@ NM_004174.3(SLC9A3):c.1145G>A (p.Arg382Gln) http://identifiers.org/clinvar/224598 ^@ NM_004174.3(SLC9A3):c.1745delC (p.Ser582Leufs) http://identifiers.org/clinvar/224599 ^@ NM_004174.3(SLC9A3):c.805G>A (p.Ala269Thr) http://identifiers.org/clinvar/224600 ^@ NM_004174.3(SLC9A3):c.782dupG (p.Thr262Hisfs) http://identifiers.org/clinvar/224601 ^@ NM_006859.3(LIAS):c.475_477delGAGinsAAA (p.Glu159Lys) http://identifiers.org/clinvar/224602 ^@ NM_006859.3(LIAS):c.645T>A (p.Asp215Glu) http://identifiers.org/clinvar/224604 ^@ NM_020821.2(VPS13C):c.802_805dupCAGA (p.Arg269Thrfs) http://identifiers.org/clinvar/224608 ^@ NM_017668.2(NDE1):c.-43-3548_83+622del http://identifiers.org/clinvar/224612 ^@ NM_004750.4(CRLF1):c.845_846delTG (p.Val282GlyfsTer47) http://identifiers.org/clinvar/224611 ^@ NM_004750.4(CRLF1):c.75_77delGCT (p.Leu26del) http://identifiers.org/clinvar/224614 ^@ NM_000574.4(CD55):c.203G>A (p.Ser68Asn) http://identifiers.org/clinvar/224615 ^@ NC_000023.10:g.132834006_132986815del http://identifiers.org/clinvar/224617 ^@ NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) http://identifiers.org/clinvar/224619 ^@ NM_000527.4(LDLR):c.941-4G>A http://identifiers.org/clinvar/224620 ^@ NM_000527.4(LDLR):c.1194C>T (p.Ile398=) http://identifiers.org/clinvar/224616 ^@ NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) http://identifiers.org/clinvar/224618 ^@ NM_000527.4(LDLR):c.1836C>T (p.Ala612=) http://identifiers.org/clinvar/224625 ^@ NM_012193.3(FZD4):c.1282_1285delGACA (p.Asp428Serfs) http://identifiers.org/clinvar/224624 ^@ NM_012193.3(FZD4):c.313A>G (p.Met105Val) http://identifiers.org/clinvar/224621 ^@ NM_018191.3(RCBTB1):c.1172+1G>A http://identifiers.org/clinvar/224622 ^@ NM_018191.3(RCBTB1):c.707delA (p.Asn236Thrfs) http://identifiers.org/clinvar/224623 ^@ NM_000266.3(NDP):c.-77A>G http://identifiers.org/clinvar/224629 ^@ NM_005461.4(MAFB):c.(?_391)_*(390_?)del http://identifiers.org/clinvar/224628 ^@ NM_005461.4(MAFB):c.803delA (p.Asn268Metfs) http://identifiers.org/clinvar/224627 ^@ NM_005461.4(MAFB):c.644delA (p.Gln215Argfs) http://identifiers.org/clinvar/224626 ^@ NM_005461.4(MAFB):c.440delG (p.Gly147Alafs) http://identifiers.org/clinvar/224631 ^@ NM_016213.4(TRIP4):c.760C>T (p.Arg254Ter) http://identifiers.org/clinvar/224632 ^@ NM_016213.4(TRIP4):c.832C>T (p.Arg278Ter) http://identifiers.org/clinvar/224634 ^@ NM_016222.3(DDX41):c.1574G>A (p.Arg525His) http://identifiers.org/clinvar/224635 ^@ NM_016222.3(DDX41):c.1187T>C (p.Ile396Thr) http://identifiers.org/clinvar/224636 ^@ NM_016222.2(DDX41):c.435_571del137 http://identifiers.org/clinvar/224637 ^@ NM_016222.3(DDX41):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/224638 ^@ NM_016222.3(DDX41):c.490C>T (p.Arg164Trp) http://identifiers.org/clinvar/224639 ^@ NM_001198799.2(ASCC1):c.157dupG (p.Glu53Glyfs) http://identifiers.org/clinvar/224642 ^@ NM_033419.4(PGAP3):c.*559C>T http://identifiers.org/clinvar/224641 ^@ NM_033419.4(PGAP3):c.861G>T (p.Trp287Cys) http://identifiers.org/clinvar/224644 ^@ NM_033419.4(PGAP3):c.845A>G (p.Asp282Gly) http://identifiers.org/clinvar/224648 ^@ NM_033419.4(PGAP3):c.842T>C (p.Leu281Pro) http://identifiers.org/clinvar/224645 ^@ NM_033419.4(PGAP3):c.558-10G>A http://identifiers.org/clinvar/224647 ^@ NM_033419.4(PGAP3):c.511T>C (p.Cys171Arg) http://identifiers.org/clinvar/224646 ^@ NM_033419.4(PGAP3):c.439dupC (p.Leu147Profs) http://identifiers.org/clinvar/224640 ^@ NM_033419.4(PGAP3):c.402dupC (p.Met135Hisfs) http://identifiers.org/clinvar/224643 ^@ NM_033419.4(PGAP3):c.320C>T (p.Ser107Leu) http://identifiers.org/clinvar/224649 ^@ NM_001267550.2(TTN):c.45756dupA (p.Tyr15253Ilefs) http://identifiers.org/clinvar/224650 ^@ NM_014712.2(SETD1A):c.518-2A>G http://identifiers.org/clinvar/224651 ^@ NM_014712.2(SETD1A):c.1272delC (p.Tyr425Thrfs) http://identifiers.org/clinvar/224654 ^@ NM_014712.2(SETD1A):c.1938C>G (p.Tyr646Ter) http://identifiers.org/clinvar/224653 ^@ NM_014712.2(SETD1A):c.2171dupC (p.Ala725Serfs) http://identifiers.org/clinvar/224652 ^@ NM_014712.2(SETD1A):c.2209C>T (p.Gln737Ter) http://identifiers.org/clinvar/224655 ^@ NM_004463.2(FGD1):c.2761C>T (p.Arg921Ter) http://identifiers.org/clinvar/224680 ^@ NM_170707.3(LMNA):c.985C>G (p.Arg329Gly) http://identifiers.org/clinvar/224672 ^@ NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys) http://identifiers.org/clinvar/224666 ^@ NM_001100.3(ACTA1):c.460G>C (p.Val154Leu) http://identifiers.org/clinvar/224689 ^@ NM_001100.3(ACTA1):c.341C>T (p.Pro114Leu) http://identifiers.org/clinvar/224691 ^@ NM_020451.2(SELENON):c.713_714dupAC (p.Arg239Thrfs) http://identifiers.org/clinvar/224704 ^@ NM_001271208.1(NEB):c.23662G>A (p.Val7888Ile) http://identifiers.org/clinvar/242434 ^@ NM_001271208.1(NEB):c.7523_7526delTCAA (p.Ile2508Thrfs) http://identifiers.org/clinvar/242433 ^@ NM_001271208.1(NEB):c.7291G>A (p.Glu2431Lys) http://identifiers.org/clinvar/242432 ^@ NM_001267550.2(TTN):c.107867delT (p.Leu35956Argfs) http://identifiers.org/clinvar/242431 ^@ NM_001267550.2(TTN):c.106531+2T>A http://identifiers.org/clinvar/242430 ^@ NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) http://identifiers.org/clinvar/242429 ^@ NM_001267550.2(TTN):c.102956_102958delCAA (p.Thr34319del) http://identifiers.org/clinvar/224690 ^@ NM_001267550.2(TTN):c.101821A>T (p.Arg33941Ter) http://identifiers.org/clinvar/242428 ^@ NM_001267550.2(TTN):c.91762G>A (p.Asp30588Asn) http://identifiers.org/clinvar/224692 ^@ NM_001267550.2(TTN):c.91690G>T (p.Gly30564Ter) http://identifiers.org/clinvar/242427 ^@ NM_001267550.2(TTN):c.84105A>T (p.Leu28035Phe) http://identifiers.org/clinvar/242426 ^@ NM_001267550.2(TTN):c.75050T>C (p.Ile25017Thr) http://identifiers.org/clinvar/242425 ^@ NM_001267550.2(TTN):c.67349-2A>C http://identifiers.org/clinvar/242424 ^@ NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) http://identifiers.org/clinvar/242423 ^@ NM_001267550.2(TTN):c.55732+5G>C http://identifiers.org/clinvar/224678 ^@ NM_001267550.2(TTN):c.55418delG (p.Arg18473Lysfs) http://identifiers.org/clinvar/224702 ^@ NM_001267550.2(TTN):c.48845T>C (p.Val16282Ala) http://identifiers.org/clinvar/224683 ^@ NM_001267550.2(TTN):c.43747+2T>C http://identifiers.org/clinvar/242422 ^@ NM_001267550.2(TTN):c.42315_42318delGAAA (p.Lys14105Asnfs) http://identifiers.org/clinvar/242421 ^@ NM_001267550.2(TTN):c.42151+1G>C http://identifiers.org/clinvar/242420 ^@ NM_001267550.2(TTN):c.39547+3A>G http://identifiers.org/clinvar/224699 ^@ NM_001267550.2(TTN):c.30437T>A (p.Val10146Asp) http://identifiers.org/clinvar/224707 ^@ NM_001267550.2(TTN):c.19879T>G (p.Ser6627Ala) http://identifiers.org/clinvar/242419 ^@ NM_001267550.2(TTN):c.14217A>C (p.Glu4739Asp) http://identifiers.org/clinvar/224695 ^@ NM_001267550.2(TTN):c.3490G>T (p.Glu1164Ter) http://identifiers.org/clinvar/224696 ^@ NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) http://identifiers.org/clinvar/224677 ^@ NM_004369.3(COL6A3):c.7264C>T (p.Arg2422Ter) http://identifiers.org/clinvar/224687 ^@ NM_004369.3(COL6A3):c.2218C>T (p.Arg740Cys) http://identifiers.org/clinvar/242418 ^@ NM_003494.3(DYSF):c.3113G>A (p.Arg1038Gln) http://identifiers.org/clinvar/224684 ^@ NM_033337.2(CAV3):c.380C>A (p.Thr127Asn) http://identifiers.org/clinvar/224697 ^@ NM_006790.2(MYOT):c.314C>T (p.Pro105Leu) http://identifiers.org/clinvar/224658 ^@ NM_003289.3(TPM2):c.181T>C (p.Ser61Pro) http://identifiers.org/clinvar/224667 ^@ NM_213599.2(ANO5):c.352delG (p.Glu118Lysfs) http://identifiers.org/clinvar/242417 ^@ NM_001144996.1(ITGA7):c.2752C>T (p.Arg918Trp) http://identifiers.org/clinvar/224701 ^@ NM_001144996.1(ITGA7):c.2675G>A (p.Gly892Glu) http://identifiers.org/clinvar/224693 ^@ NM_000257.3(MYH7):c.3337-5_3337-4insG http://identifiers.org/clinvar/242416 ^@ NM_013382.5(POMT2):c.1170_1171delTA (p.His390Glnfs) http://identifiers.org/clinvar/224703 ^@ NM_013382.5(POMT2):c.629T>C (p.Met210Thr) http://identifiers.org/clinvar/242415 ^@ NM_000070.2(CAPN3):c.439C>T (p.Arg147Ter) http://identifiers.org/clinvar/224681 ^@ NM_001005360.2(DNM2):c.853C>G (p.Leu285Val) http://identifiers.org/clinvar/224673 ^@ NM_000540.2(RYR1):c.1438G>A (p.Glu480Lys) http://identifiers.org/clinvar/242414 ^@ NM_000540.2(RYR1):c.2029C>T (p.Gln677Ter) http://identifiers.org/clinvar/224694 ^@ NM_000540.2(RYR1):c.7244G>A (p.Arg2415Gln) http://identifiers.org/clinvar/242413 ^@ NM_001039885.2(FKRP):c.74C>A (p.Ser25Ter) http://identifiers.org/clinvar/242412 ^@ NM_024301.4(FKRP):c.76_77delTG (p.Trp26Alafs) http://identifiers.org/clinvar/224705 ^@ NM_001848.2(COL6A1):c.1425delA (p.Gly476Alafs) http://identifiers.org/clinvar/224679 ^@ NM_001848.2(COL6A1):c.1716delG (p.Tyr573Thrfs) http://identifiers.org/clinvar/224688 ^@ NM_001849.3(COL6A2):c.503G>T (p.Ser168Ile) http://identifiers.org/clinvar/224657 ^@ NM_001849.3(COL6A2):c.954G>T (p.Lys318Asn) http://identifiers.org/clinvar/224685 ^@ NM_001849.3(COL6A2):c.1358G>A (p.Arg453His) http://identifiers.org/clinvar/224665 ^@ NM_004006.2(DMD):c.10509_10510delAG (p.Glu3505Alafs) http://identifiers.org/clinvar/224682 ^@ NM_004006.2(DMD):c.799C>T (p.Gln267Ter) http://identifiers.org/clinvar/224709 ^@ NM_033084.4(FANCD2):c.2097_2099delCCT (p.Leu700del) http://identifiers.org/clinvar/224718 ^@ NM_002074.4(GNB1):c.976G>A (p.Ala326Thr) http://identifiers.org/clinvar/224717 ^@ NM_002074.4(GNB1):c.301A>G (p.Met101Val) http://identifiers.org/clinvar/224716 ^@ NM_002074.4(GNB1):c.284T>C (p.Leu95Pro) http://identifiers.org/clinvar/224715 ^@ NM_002074.4(GNB1):c.239T>A (p.Ile80Asn) http://identifiers.org/clinvar/224714 ^@ NM_002074.4(GNB1):c.233A>G (p.Lys78Arg) http://identifiers.org/clinvar/224713 ^@ NM_002074.4(GNB1):c.229G>A (p.Gly77Ser) http://identifiers.org/clinvar/224712 ^@ NM_002074.4(GNB1):c.228T>G (p.Asp76Glu) http://identifiers.org/clinvar/224711 ^@ NM_002074.4(GNB1):c.227A>G (p.Asp76Gly) http://identifiers.org/clinvar/224720 ^@ NM_018400.3(SCN3B):c.423C>G (p.Ile141Met) http://identifiers.org/clinvar/224721 ^@ NM_003470.2(USP7):c.429C>G (p.Tyr143Ter) http://identifiers.org/clinvar/224722 ^@ NM_015100.3(POGZ):c.1277dupC (p.Glu427Terfs) http://identifiers.org/clinvar/224723 ^@ NM_015100.3(POGZ):c.2590C>T (p.Arg864Ter) http://identifiers.org/clinvar/224724 ^@ NM_015100.3(POGZ):c.3001C>T (p.Arg1001Ter) http://identifiers.org/clinvar/224725 ^@ NM_015100.3(POGZ):c.3847C>T (p.Gln1283Ter) http://identifiers.org/clinvar/224726 ^@ NM_015100.3(POGZ):c.3456_3457delAG (p.Glu1154Thrfs) http://identifiers.org/clinvar/224733 ^@ NM_025207.4(FLAD1):c.324delG (p.Arg109Alafs) http://identifiers.org/clinvar/224732 ^@ NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs) http://identifiers.org/clinvar/224734 ^@ NM_025207.4(FLAD1):c.498delC (p.Ser167Profs) http://identifiers.org/clinvar/224735 ^@ NM_025207.4(FLAD1):c.508T>C (p.Phe170Leu) http://identifiers.org/clinvar/224731 ^@ NM_025207.4(FLAD1):c.526_537delGCAGGGGGCATCinsCA (p.Ala176Glnfs) http://identifiers.org/clinvar/224728 ^@ NM_025207.4(FLAD1):c.568_569dupGC (p.Val191Glnfs) http://identifiers.org/clinvar/224730 ^@ NM_025207.4(FLAD1):c.836delT (p.Phe279Serfs) http://identifiers.org/clinvar/224727 ^@ NM_025207.4(FLAD1):c.1484_1486delCCT (p.Ser495del) http://identifiers.org/clinvar/224729 ^@ NM_025207.4(FLAD1):c.1588C>T (p.Arg530Cys) http://identifiers.org/clinvar/224753 ^@ NM_206933.2(USH2A):c.6446C>A (p.Pro2149Gln) http://identifiers.org/clinvar/224746 ^@ NM_206933.2(USH2A):c.5614delGinsTTAACTTGGCAT (p.Ala1872Leufs) http://identifiers.org/clinvar/224745 ^@ NM_206933.2(USH2A):c.4474G>T (p.Glu1492Ter) http://identifiers.org/clinvar/224757 ^@ NM_206933.2(USH2A):c.4321G>T (p.Glu1441Ter) http://identifiers.org/clinvar/224755 ^@ NM_000350.2(ABCA4):c.2713delG (p.Glu905Argfs) http://identifiers.org/clinvar/224741 ^@ NM_000283.3(PDE6B):c.1876G>T (p.Glu626Ter) http://identifiers.org/clinvar/224742 ^@ NM_000283.3(PDE6B):c.1923_1969del47insTCTGGG (p.Asn643Glyfs) http://identifiers.org/clinvar/224743 ^@ NM_032119.3(ADGRV1):c.1239-8C>G http://identifiers.org/clinvar/224759 ^@ NM_001142800.1(EYS):c.9277_9278dupGG (p.Arg3094Valfs) http://identifiers.org/clinvar/224754 ^@ NM_005802.4(TOPORS):c.2539C>T (p.Arg847Ter) http://identifiers.org/clinvar/224750 ^@ NM_002900.2(RBP3):c.249C>A (p.Asn83Lys) http://identifiers.org/clinvar/224751 ^@ NM_002900.2(RBP3):c.1237C>T (p.Pro413Ser) http://identifiers.org/clinvar/224747 ^@ NM_001142763.1(PCDH15):c.2986C>T (p.Arg996Ter) http://identifiers.org/clinvar/224749 ^@ NM_000260.3(MYO7A):c.4115T>G (p.Val1372Gly) http://identifiers.org/clinvar/224740 ^@ NM_002420.5(TRPM1):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/224738 ^@ NM_000554.5(CRX):c.648delC (p.Ser216Argfs) http://identifiers.org/clinvar/224758 ^@ NM_015629.3(PRPF31):c.1120C>T (p.Gln374Ter) http://identifiers.org/clinvar/224756 ^@ NM_001034853.1(RPGR):c.1928C>G (p.Ser643Ter) http://identifiers.org/clinvar/224739 ^@ NM_006343.2:c.-8163_c.1145-1213del http://identifiers.org/clinvar/224744 ^@ NM_032119.3:c.16079-1455_c.16196+155del http://identifiers.org/clinvar/224748 ^@ NM_001142763.1:c.-189197_c.610-5166del http://identifiers.org/clinvar/224752 ^@ NM_206933.2:c.6326-3582_6658-1028del http://identifiers.org/clinvar/224760 ^@ NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) http://identifiers.org/clinvar/224764 ^@ NM_003664.4(AP3B1):c.1839_1842delTAGA (p.Asp613Glufs) http://identifiers.org/clinvar/224761 ^@ NM_003664.4(AP3B1):c.1754delT (p.Val585Glufs) http://identifiers.org/clinvar/224762 ^@ NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter) http://identifiers.org/clinvar/224763 ^@ NM_003664.4(AP3B1):c.177delA (p.Lys59Asnfs) http://identifiers.org/clinvar/224770 ^@ NM_152906.5(TANGO2):c.57-1743_*10769del http://identifiers.org/clinvar/224772 ^@ NM_152906.5(TANGO2):c.146-3605_451+2245del http://identifiers.org/clinvar/224773 ^@ NM_001283106.2(TANGO2):c.4delT (p.Cys2Alafs) http://identifiers.org/clinvar/224774 ^@ NM_001283106.2(TANGO2):c.418C>T (p.Arg140Ter) http://identifiers.org/clinvar/224775 ^@ NM_000364.3(TNNT2):c.316G>A (p.Glu106Lys) http://identifiers.org/clinvar/224776 ^@ NC_012920.1:m.14248dupC http://identifiers.org/clinvar/224777 ^@ NM_006060.5(IKZF1):c.629A>G (p.Tyr210Cys) http://identifiers.org/clinvar/224778 ^@ NM_006060.5(IKZF1):c.485G>T (p.Arg162Leu) http://identifiers.org/clinvar/224779 ^@ NM_006060.5(IKZF1):c.485G>A (p.Arg162Gln) http://identifiers.org/clinvar/224780 ^@ NM_006060.5(IKZF1):c.500A>G (p.His167Arg) http://identifiers.org/clinvar/224781 ^@ NM_006060.5(IKZF1):c.551G>A (p.Arg184Gln) http://identifiers.org/clinvar/224782 ^@ NM_006060.5(IKZF1):c.161-8388_589+2308del http://identifiers.org/clinvar/224783 ^@ NM_000512.4(GALNS):c.898+1G>C http://identifiers.org/clinvar/224784 ^@ c.1228G>A http://identifiers.org/clinvar/224785 ^@ NM_001429.3(EP300):c.7222_7223delCA (p.Gln2408Glufs) http://identifiers.org/clinvar/224786 ^@ NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) http://identifiers.org/clinvar/224787 ^@ NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) http://identifiers.org/clinvar/224788 ^@ NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) http://identifiers.org/clinvar/224789 ^@ NM_004360.4(CDH1):c.1220delC http://identifiers.org/clinvar/224793 ^@ NM_006734.3(HIVEP2):c.6475G>T (p.Gly2159Ter) http://identifiers.org/clinvar/224795 ^@ NM_006734.3(HIVEP2):c.5614dupG (p.Glu1872Glyfs) http://identifiers.org/clinvar/224792 ^@ NM_006734.3(HIVEP2):c.2905C>T (p.Gln969Ter) http://identifiers.org/clinvar/224794 ^@ NM_006734.3(HIVEP2):c.2857G>T (p.Glu953Ter) http://identifiers.org/clinvar/224791 ^@ NM_006734.3(HIVEP2):c.2827C>T (p.Arg943Ter) http://identifiers.org/clinvar/224798 ^@ NM_006734.3(HIVEP2):c.1189G>T (p.Asp397Tyr) http://identifiers.org/clinvar/224797 ^@ NM_177559.2(CSNK2A1):c.824+2T>C http://identifiers.org/clinvar/224790 ^@ NM_177559.2(CSNK2A1):c.593A>G (p.Lys198Arg) http://identifiers.org/clinvar/224799 ^@ NM_177559.2(CSNK2A1):c.524A>G (p.Asp175Gly) http://identifiers.org/clinvar/224800 ^@ NM_177559.2(CSNK2A1):c.149A>C (p.Tyr50Ser) http://identifiers.org/clinvar/224796 ^@ NM_177559.2(CSNK2A1):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/224801 ^@ NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) http://identifiers.org/clinvar/224802 ^@ NM_015047.2(EMC1):c.430G>A (p.Ala144Thr) http://identifiers.org/clinvar/224824 ^@ NM_016361.4(ACP6):c.379G>A (p.Val127Met) http://identifiers.org/clinvar/224812 ^@ NM_175866.4(UHMK1):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/224814 ^@ NM_001198956.1(DCAF6):c.2240G>A (p.Arg747Gln) http://identifiers.org/clinvar/224809 ^@ NM_018125.3(ARHGEF10L):c.3646G>A (p.Asp1216Asn) http://identifiers.org/clinvar/224806 ^@ NM_001029882.3(AHDC1):c.1402dupT (p.Cys468Leufs) http://identifiers.org/clinvar/224822 ^@ NM_012102.3(RERE):c.4293C>A (p.His1431Gln) http://identifiers.org/clinvar/224820 ^@ NM_001690.3(ATP6V1A):c.940A>G (p.Asn314Asp) http://identifiers.org/clinvar/224821 ^@ NM_018359.3(UFSP2):c.1373A>G (p.Tyr458Cys) http://identifiers.org/clinvar/224810 ^@ NM_021911.2(GABRB2):c.754C>G (p.Pro252Ala) http://identifiers.org/clinvar/224815 ^@ NM_007327.3(GRIN1):c.679G>C (p.Asp227His) http://identifiers.org/clinvar/224823 ^@ NM_004170.5(SLC1A1):c.1264G>A (p.Val422Met) http://identifiers.org/clinvar/224813 ^@ NM_152707.3(SLC25A16):c.793C>T (p.Arg265Cys) http://identifiers.org/clinvar/224818 ^@ NM_000834.3(GRIN2B):c.2065G>A (p.Gly689Ser) http://identifiers.org/clinvar/224817 ^@ NM_006940.5(SOX5):c.1831C>G (p.Arg611Gly) http://identifiers.org/clinvar/224816 ^@ NM_001100915.2(KCTD19):c.215C>A (p.Thr72Asn) http://identifiers.org/clinvar/224807 ^@ NM_001365.4(DLG4):c.277dupT (p.Tyr93Leufs) http://identifiers.org/clinvar/224819 ^@ NM_014898.2(ZFP30):c.730T>C (p.Cys244Arg) http://identifiers.org/clinvar/224811 ^@ NM_001113490.1(AMOT):c.1926G>C (p.Gln642His) http://identifiers.org/clinvar/224808 ^@ NM_005660.2(SLC35A2):c.800A>G (p.Tyr267Cys) http://identifiers.org/clinvar/224825 ^@ NC_000017.9:g.6853665_8107394dup1253730 http://identifiers.org/clinvar/224826 ^@ NC_000017.9:g.6996378_7152828del156451 http://identifiers.org/clinvar/224827 ^@ NC_000017.9:g.6936148_7177360del241213 http://identifiers.org/clinvar/224828 ^@ NC_000017.9:g.7033635_7977678del944044 http://identifiers.org/clinvar/224829 ^@ NC_000017.9:g.6838295_7991364del1153070 http://identifiers.org/clinvar/224830 ^@ NM_001199917.1(PGM3):c.799G>C (p.Asp267His) http://identifiers.org/clinvar/224831 ^@ NC_000006.11:g.(83013454_83145962)_(84389166_84395825)del http://identifiers.org/clinvar/224832 ^@ NC_000003.12:g.177772523_185716872dup http://identifiers.org/clinvar/224834 ^@ NM_001937.4(DPT):c.544C>T (p.Arg182Cys) http://identifiers.org/clinvar/224833 ^@ NM_152754.2(SEMA3D):c.1738C>T (p.Pro580Ser) http://identifiers.org/clinvar/224835 ^@ NM_024915.3(GRHL2):c.34G>T (p.Val12Leu) http://identifiers.org/clinvar/224836 ^@ NM_001163673.1(WDR81):c.388C>T (p.Arg130Ter) http://identifiers.org/clinvar/224837 ^@ NM_021220.3(OVOL2):c.-361_-340dup22 http://identifiers.org/clinvar/224838 ^@ NM_021220.3(OVOL2):c.-370T>C http://identifiers.org/clinvar/224839 ^@ NM_021220.3(OVOL2):c.-307T>C http://identifiers.org/clinvar/224840 ^@ NM_021220.3(OVOL2):c.-274T>G http://identifiers.org/clinvar/224841 ^@ NM_002185.3(IL7R):c.361dupA (p.Ile121Asnfs) http://identifiers.org/clinvar/224842 ^@ NC_000005.9:g.(35862009_35867357)_(35867581_35867620)del http://identifiers.org/clinvar/224848 ^@ NM_139276.2(STAT3):c.2147C>T (p.Thr716Met) http://identifiers.org/clinvar/224850 ^@ NM_139276.2(STAT3):c.2107G>A (p.Ala703Thr) http://identifiers.org/clinvar/224845 ^@ NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile) http://identifiers.org/clinvar/224844 ^@ NM_139276.2(STAT3):c.1261G>A (p.Gly421Arg) http://identifiers.org/clinvar/224849 ^@ NM_139276.2(STAT3):c.1260T>G (p.Asn420Lys) http://identifiers.org/clinvar/224847 ^@ NM_139276.2(STAT3):c.1057G>T (p.Val353Phe) http://identifiers.org/clinvar/224843 ^@ NM_139276.2(STAT3):c.1032G>C (p.Gln344His) http://identifiers.org/clinvar/224846 ^@ NM_139276.2(STAT3):c.454C>T (p.Arg152Trp) http://identifiers.org/clinvar/224852 ^@ NM_032208.2(ANTXR1):c.411A>G (p.Gln137=) http://identifiers.org/clinvar/224853 ^@ NM_032208.2(ANTXR1):c.1150G>A (p.Gly384Ser) http://identifiers.org/clinvar/224851 ^@ NM_032208.2(ANTXR1):c.1221dupT (p.Ala408Cysfs) http://identifiers.org/clinvar/224854 ^@ NM_023073.3(C5orf42):c.4034A>G (p.Gln1345Arg) http://identifiers.org/clinvar/224857 ^@ NM_002242.4(KCNJ13):c.158G>A (p.Trp53Ter) http://identifiers.org/clinvar/224861 ^@ NM_003285.2(TNR):c.1774A>G (p.Thr592Ala) http://identifiers.org/clinvar/224862 ^@ NM_003285.2(TNR):c.1732C>T (p.Arg578Ter) http://identifiers.org/clinvar/224863 ^@ NM_003285.2(TNR):c.538A>C (p.Asn180His) http://identifiers.org/clinvar/224864 ^@ NM_003285.2(TNR):c.496A>G (p.Thr166Ala) http://identifiers.org/clinvar/224865 ^@ NM_003285.2(TNR):c.463T>A (p.Cys155Ser) http://identifiers.org/clinvar/224858 ^@ NM_005781.4(TNK2):c.2930C>T (p.Ala977Val) http://identifiers.org/clinvar/224859 ^@ NM_005781.4(TNK2):c.2630G>A (p.Arg877His) http://identifiers.org/clinvar/224860 ^@ NM_005781.4(TNK2):c.1088T>C (p.Val363Ala) http://identifiers.org/clinvar/224866 ^@ NC_000023.10:g.135602028_136259908dup657881 http://identifiers.org/clinvar/224867 ^@ NM_138701.3(MPLKIP):c.339+1G>A http://identifiers.org/clinvar/224874 ^@ NM_001135599.3(TGFB2):c.297C>A (p.Tyr99Ter) http://identifiers.org/clinvar/224872 ^@ NM_001135599.2(TGFB2):c.988C>T (p.Arg330Cys) http://identifiers.org/clinvar/224873 ^@ NM_001135599.3(TGFB2):c.1106_1110delACAAT (p.Tyr369Cysfs) http://identifiers.org/clinvar/224869 ^@ NM_003036.3(SKI):c.62T>G (p.Leu21Arg) http://identifiers.org/clinvar/224868 ^@ NM_003036.3(SKI):c.349G>C (p.Gly117Arg) http://identifiers.org/clinvar/224875 ^@ NM_002296.3(LBR):c.1640A>G (p.Asn547Ser) http://identifiers.org/clinvar/224876 ^@ NM_002296.3(LBR):c.226C>T (p.Arg76Ter) http://identifiers.org/clinvar/224870 ^@ NC_000001.10:g.(215588712_?)_(?_222145072)del http://identifiers.org/clinvar/224871 ^@ NC_000001.10:g.(216672181_?)_(?_220202575)del http://identifiers.org/clinvar/224878 ^@ NM_001844.4(COL2A1):c.619G>A (p.Gly207Arg) http://identifiers.org/clinvar/224879 ^@ NM_001329905.1(SERPINF1):c.591_609del19 (p.Phe197Leufs) http://identifiers.org/clinvar/224882 ^@ NM_000435.2(NOTCH3):c.6732C>A (p.Tyr2244Ter) http://identifiers.org/clinvar/224881 ^@ NM_000435.2(NOTCH3):c.6692dupC (p.Ala2233Glyfs) http://identifiers.org/clinvar/224883 ^@ NM_000435.2(NOTCH3):c.6663C>G (p.Tyr2221Ter) http://identifiers.org/clinvar/224880 ^@ NM_000435.2(NOTCH3):c.6461_6486del26 (p.Gly2154Alafs) http://identifiers.org/clinvar/224877 ^@ NM_004782.3(SNAP29):c.223delG (p.Val75Serfs) http://identifiers.org/clinvar/224884 ^@ NM_022912.2(REEP1):c.595+1G>A http://identifiers.org/clinvar/224885 ^@ NM_003331.4(TYK2):c.3318_3319insC http://identifiers.org/clinvar/224886 ^@ NM_003331.4(TYK2):c.460G>T (p.Glu154Ter) http://identifiers.org/clinvar/224887 ^@ NM_003331.4(TYK2):c.149delC (p.Ser50Cysfs) http://identifiers.org/clinvar/224888 ^@ NM_003331.4(TYK2):c.1912C>T (p.Arg638Ter) http://identifiers.org/clinvar/242411 ^@ NM_001289862.1(PER3):c.1250A>G (p.His417Arg) http://identifiers.org/clinvar/242410 ^@ NM_001289862.1(PER3):c.1243C>G (p.Pro415Ala) http://identifiers.org/clinvar/224890 ^@ NM_030805.3(LMAN2L):c.158G>A (p.Arg53Gln) http://identifiers.org/clinvar/224891 ^@ NM_016401.3(HIKESHI):c.160G>C (p.Val54Leu) http://identifiers.org/clinvar/224896 ^@ NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) http://identifiers.org/clinvar/224897 ^@ NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) http://identifiers.org/clinvar/224903 ^@ NM_001282716.1(STAG3):c.1947_1948dupCT (p.Tyr650Serfs) http://identifiers.org/clinvar/224905 ^@ NM_016653.2(MAP3K20):c.988-4814_1359+60del http://identifiers.org/clinvar/224906 ^@ NM_153365.2(TAPT1):c.1108-1G>C http://identifiers.org/clinvar/224907 ^@ NM_153365.2(TAPT1):c.1058A>T (p.Asp353Val) http://identifiers.org/clinvar/224909 ^@ NM_001830.3(CLCN4):c.1389+5G>A http://identifiers.org/clinvar/224910 ^@ NM_001830.3(CLCN4):c.43G>A (p.Asp15Asn) http://identifiers.org/clinvar/224911 ^@ NM_012160.4(FBXL4):c.1442T>C (p.Leu481Pro) http://identifiers.org/clinvar/224916 ^@ NM_014550.3(CARD10):c.2485C>T (p.Arg829Trp) http://identifiers.org/clinvar/224915 ^@ NM_014550.3(CARD10):c.1210C>T (p.Arg404Trp) http://identifiers.org/clinvar/224914 ^@ NM_014550.3(CARD10):c.1024G>A (p.Val342Met) http://identifiers.org/clinvar/224913 ^@ NM_014550.3(CARD10):c.983C>T (p.Ala328Val) http://identifiers.org/clinvar/224912 ^@ NM_014550.3(CARD10):c.635G>A (p.Arg212His) http://identifiers.org/clinvar/224917 ^@ NM_001830.3(CLCN4):c.1630G>C (p.Gly544Arg) http://identifiers.org/clinvar/224927 ^@ NM_139076.2(FAM175A):c.1056T>G (p.Asp352Glu) http://identifiers.org/clinvar/224932 ^@ NM_001903.4(CTNNA1):c.2226C>G (p.Val742=) http://identifiers.org/clinvar/224939 ^@ NM_002290.4(LAMA4):c.827_828delACinsCA (p.Asp276Ala) http://identifiers.org/clinvar/224928 ^@ NM_001206927.1(DNAH8):c.2915A>T (p.Glu972Val) http://identifiers.org/clinvar/224918 ^@ NM_001206927.1(DNAH8):c.4383G>A (p.Leu1461=) http://identifiers.org/clinvar/224919 ^@ NM_001206927.1(DNAH8):c.8339T>C (p.Ile2780Thr) http://identifiers.org/clinvar/224926 ^@ NM_021930.5(RINT1):c.330A>G (p.Ala110=) http://identifiers.org/clinvar/224922 ^@ NM_021930.5(RINT1):c.1025T>C (p.Met342Thr) http://identifiers.org/clinvar/224930 ^@ NM_021930.5(RINT1):c.1374T>C (p.Ala458=) http://identifiers.org/clinvar/224923 ^@ NM_021930.5(RINT1):c.1447A>G (p.Met483Val) http://identifiers.org/clinvar/224920 ^@ NM_021930.5(RINT1):c.1671_1671+2delTGT http://identifiers.org/clinvar/224933 ^@ NM_021930.5(RINT1):c.1978C>A (p.Leu660Ile) http://identifiers.org/clinvar/224921 ^@ NM_021930.5(RINT1):c.2276C>T (p.Pro759Leu) http://identifiers.org/clinvar/224935 ^@ NM_021930.5(RINT1):c.2370T>C (p.Thr790=) http://identifiers.org/clinvar/224934 ^@ NM_005431.1(XRCC2):c.40-10C>T http://identifiers.org/clinvar/224943 ^@ NM_001277115.1(DNAH11):c.4971C>T (p.Phe1657=) http://identifiers.org/clinvar/224942 ^@ NM_000314.6(PTEN):c.-1085T>C http://identifiers.org/clinvar/224929 ^@ NM_144670.5(A2ML1):c.196C>T (p.Leu66=) http://identifiers.org/clinvar/224925 ^@ NM_144670.5(A2ML1):c.621T>C (p.Gly207=) http://identifiers.org/clinvar/224931 ^@ NM_144670.5(A2ML1):c.2007G>A (p.Thr669=) http://identifiers.org/clinvar/224936 ^@ NM_001211.5(BUB1B):c.1046A>G (p.Gln349Arg) http://identifiers.org/clinvar/224924 ^@ NM_001211.5(BUB1B):c.2856C>T (p.Asp952=) http://identifiers.org/clinvar/224941 ^@ NM_000267.3(NF1):c.4368-?_5943+?del http://identifiers.org/clinvar/224944 ^@ NM_007294.3(BRCA1):c.81-?_134+?del http://identifiers.org/clinvar/224937 ^@ NM_000059.3:c.156_157insALU http://identifiers.org/clinvar/224938 ^@ NM_032043.2:c.505_506insALU http://identifiers.org/clinvar/224945 ^@ NM_000059.3:c.9342_9343insALU http://identifiers.org/clinvar/224946 ^@ NM_139241.3(FGD4):c.1543-8T>C http://identifiers.org/clinvar/224947 ^@ NM_004168.3(SDHA):c.133G>A (p.Ala45Thr) http://identifiers.org/clinvar/224948 ^@ NM_004168.3(SDHA):c.1368G>A (p.Ser456=) http://identifiers.org/clinvar/224949 ^@ NM_004168.3(SDHA):c.1886A>T (p.Tyr629Phe) http://identifiers.org/clinvar/224950 ^@ NM_000551.3(VHL):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/224951 ^@ NM_004168.3(SDHA):c.136A>G (p.Lys46Glu) http://identifiers.org/clinvar/224952 ^@ NM_004168.3(SDHA):c.17G>A (p.Gly6Asp) http://identifiers.org/clinvar/224953 ^@ NM_004168.3(SDHA):c.822C>T (p.Gly274=) http://identifiers.org/clinvar/224954 ^@ NM_004168.3(SDHA):c.1305G>T (p.Leu435=) http://identifiers.org/clinvar/224955 ^@ NM_004168.3(SDHA):c.1911C>T (p.Val637=) http://identifiers.org/clinvar/224956 ^@ NM_004168.3(SDHA):c.1413C>T (p.Ile471=) http://identifiers.org/clinvar/224957 ^@ NM_004168.3(SDHA):c.113A>T (p.Asp38Val) http://identifiers.org/clinvar/224958 ^@ NM_139241.3(FGD4):c.836+10G>T http://identifiers.org/clinvar/224959 ^@ NM_007294.3(BRCA1):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/224960 ^@ NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del http://identifiers.org/clinvar/224961 ^@ NM_002485.4(NBN):c.(?_-1)_(*1_?)dup http://identifiers.org/clinvar/224962 ^@ NM_002399.3(MEIS2):c.959_961delGAA (p.Arg320del) http://identifiers.org/clinvar/224963 ^@ NM_020750.2(XPO5):c.1654G>A (p.Val552Ile) http://identifiers.org/clinvar/224964 ^@ NM_014669.4(NUP93):c.1772G>T (p.Gly591Val) http://identifiers.org/clinvar/224965 ^@ NM_014669.4(NUP93):c.1886A>G (p.Tyr629Cys) http://identifiers.org/clinvar/224966 ^@ NM_014669.4(NUP93):c.1326delG (p.Lys442Asnfs) http://identifiers.org/clinvar/224967 ^@ NM_014669.4(NUP93):c.1537+1G>A http://identifiers.org/clinvar/224968 ^@ NM_014669.4(NUP93):c.1162C>T (p.Arg388Trp) http://identifiers.org/clinvar/224969 ^@ NM_015135.2(NUP205):c.5984T>C (p.Phe1995Ser) http://identifiers.org/clinvar/224970 ^@ NM_000048.3(ASL):c.175G>A (p.Glu59Lys) http://identifiers.org/clinvar/224971 ^@ NM_000048.3(ASL):c.257A>C (p.Glu86Ala) http://identifiers.org/clinvar/224972 ^@ NM_000048.3(ASL):c.292delG (p.Glu98Serfs) http://identifiers.org/clinvar/224973 ^@ NM_000048.3(ASL):c.461T>C (p.Leu154Pro) http://identifiers.org/clinvar/224974 ^@ NM_000048.3(ASL):c.575_580dupAGCGGA (p.Arg193_Ile194insLysArg) http://identifiers.org/clinvar/224975 ^@ NM_000048.3(ASL):c.718+5G>A http://identifiers.org/clinvar/224976 ^@ NM_000048.3(ASL):c.762C>A (p.Ser254Arg) http://identifiers.org/clinvar/224977 ^@ NM_000048.3(ASL):c.889C>T (p.Arg297Trp) http://identifiers.org/clinvar/224978 ^@ NM_000048.3(ASL):c.1122dupC (p.Tyr375Leufs) http://identifiers.org/clinvar/224979 ^@ NM_000048.3(ASL):c.1360C>T (p.Gln454Ter) http://identifiers.org/clinvar/224980 ^@ NM_016937.3(POLA1):c.1375-354A>G http://identifiers.org/clinvar/224981 ^@ NM_000048.3(ASL):c.524+2T>G http://identifiers.org/clinvar/224991 ^@ NM_004037.7(AMPD2):c.1133G>C (p.Arg378Pro) http://identifiers.org/clinvar/225018 ^@ NM_004037.7(AMPD2):c.1232A>G (p.Asn411Ser) http://identifiers.org/clinvar/225060 ^@ NM_002016.1(FLG):c.6239C>A (p.Ser2080Ter) http://identifiers.org/clinvar/225065 ^@ NM_005572.3(LMNA):c.82C>G (p.Arg28Gly) http://identifiers.org/clinvar/225039 ^@ NM_002857.3(PEX19):c.775C>T (p.Gln259Ter) http://identifiers.org/clinvar/224993 ^@ NM_018122.4(DARS2):c.127+1G>A http://identifiers.org/clinvar/225020 ^@ NM_018122.4(DARS2):c.549G>A (p.Met183Ile) http://identifiers.org/clinvar/224995 ^@ NM_001205293.1(CACNA1E):c.2093T>C (p.Phe698Ser) http://identifiers.org/clinvar/225022 ^@ NM_001205293.1(CACNA1E):c.2635C>T (p.Arg879Trp) http://identifiers.org/clinvar/225111 ^@ NM_018136.4(ASPM):c.5818C>G (p.Gln1940Glu) http://identifiers.org/clinvar/225002 ^@ NM_020247.4(COQ8A):c.1015G>A (p.Ala339Thr) http://identifiers.org/clinvar/225030 ^@ NM_020247.4(COQ8A):c.1665G>A (p.Met555Ile) http://identifiers.org/clinvar/225073 ^@ NM_052843.3(OBSCN):c.727G>C (p.Gly243Arg) http://identifiers.org/clinvar/225034 ^@ NM_052843.3(OBSCN):c.18420-7_18423del11 http://identifiers.org/clinvar/225055 ^@ NM_022051.2(EGLN1):c.-1_1ins6 http://identifiers.org/clinvar/225058 ^@ NM_002508.2(NID1):c.1640C>T (p.Thr547Ile) http://identifiers.org/clinvar/225040 ^@ NM_153818.1(PEX10):c.836+1G>C http://identifiers.org/clinvar/225081 ^@ NM_006015.4(ARID1A):c.6232G>A (p.Glu2078Lys) http://identifiers.org/clinvar/225054 ^@ NM_003579.3(RAD54L):c.1624C>T (p.Arg542Cys) http://identifiers.org/clinvar/225107 ^@ NM_003035.2(STIL):c.3007A>G (p.Arg1003Gly) http://identifiers.org/clinvar/225064 ^@ NM_003035.2(STIL):c.1229C>G (p.Pro410Arg) http://identifiers.org/clinvar/225109 ^@ NM_004153.3(ORC1):c.2392-1G>T http://identifiers.org/clinvar/225082 ^@ NM_004153.3(ORC1):c.721+1G>C http://identifiers.org/clinvar/225044 ^@ NM_031475.2(ESPN):c.2257T>C (p.Trp753Arg) http://identifiers.org/clinvar/225075 ^@ NM_002227.3(JAK1):c.1901C>A (p.Ala634Asp) http://identifiers.org/clinvar/225098 ^@ NM_005270.4(GLI2):c.562delG (p.Ala188Argfs) http://identifiers.org/clinvar/225084 ^@ NM_004543.4(NEB):c.7761G>C (p.Arg2587Ser) http://identifiers.org/clinvar/225083 ^@ NM_004543.4(NEB):c.4393G>A (p.Asp1465Asn) http://identifiers.org/clinvar/225110 ^@ NM_004543.4(NEB):c.4198G>A (p.Ala1400Thr) http://identifiers.org/clinvar/225104 ^@ NM_133378.4(TTN):c.96818G>A (p.Arg32273His) http://identifiers.org/clinvar/225080 ^@ NM_032504.1(UNC80):c.3883G>C (p.Glu1295Gln) http://identifiers.org/clinvar/225068 ^@ NM_014946.3(SPAST):c.1634C>G (p.Ser545Ter) http://identifiers.org/clinvar/225013 ^@ NM_001005369.1(MTIF2):c.573C>G (p.His191Gln) http://identifiers.org/clinvar/224989 ^@ NM_153240.4(NPHP3):c.1920T>G (p.Asp640Glu) http://identifiers.org/clinvar/224994 ^@ NM_000158.3(GBE1):c.1064G>A (p.Arg355His) http://identifiers.org/clinvar/225005 ^@ NM_173659.3(RPUSD3):c.748C>T (p.His250Tyr) http://identifiers.org/clinvar/225035 ^@ NM_173659.3(RPUSD3):c.670C>T (p.Arg224Cys) http://identifiers.org/clinvar/225102 ^@ NM_001999.3(FBN2):c.6833C>T (p.Thr2278Met) http://identifiers.org/clinvar/225077 ^@ NM_006772.2(SYNGAP1):c.3718C>T (p.Arg1240Ter) http://identifiers.org/clinvar/225048 ^@ NM_018368.3(LMBRD1):c.1056delG (p.Asn353Ilefs) http://identifiers.org/clinvar/225026 ^@ NM_020320.4(RARS2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/225028 ^@ NM_152743.3(BRAT1):c.803+1G>C http://identifiers.org/clinvar/225051 ^@ NM_004577.3(PSPH):c.397A>C (p.Asn133His) http://identifiers.org/clinvar/225106 ^@ NM_006303.3(AIMP2):c.575-2A>G http://identifiers.org/clinvar/225049 ^@ NM_003130.3(SRI):c.206-1G>A http://identifiers.org/clinvar/225088 ^@ NM_001197293.2(DPYSL2):c.357C>A (p.Ser119Arg) http://identifiers.org/clinvar/225000 ^@ NM_017890.4(VPS13B):c.2410C>T (p.Gln804Ter) http://identifiers.org/clinvar/225021 ^@ NM_017890.4(VPS13B):c.3397C>T (p.Pro1133Ser) http://identifiers.org/clinvar/225027 ^@ NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter) http://identifiers.org/clinvar/225061 ^@ NM_005094.3(SLC27A4):c.556+2T>G http://identifiers.org/clinvar/225105 ^@ NM_005094.3(SLC27A4):c.1774G>A (p.Gly592Arg) http://identifiers.org/clinvar/225043 ^@ NM_024757.4(EHMT1):c.1307C>T (p.Pro436Leu) http://identifiers.org/clinvar/225069 ^@ NM_018847.3(KLHL9):c.963T>A (p.Asp321Glu) http://identifiers.org/clinvar/225115 ^@ NM_006914.3(RORB):c.218T>C (p.Leu73Pro) http://identifiers.org/clinvar/225116 ^@ NM_006914.3(RORB):c.1249_1251delACG (p.Thr417del) http://identifiers.org/clinvar/225031 ^@ NM_018245.2(OGDHL):c.2201T>C (p.Phe734Ser) http://identifiers.org/clinvar/225003 ^@ NM_018245.2(OGDHL):c.886A>T (p.Met296Leu) http://identifiers.org/clinvar/225078 ^@ NM_020987.4(ANK3):c.104G>A (p.Arg35Gln) http://identifiers.org/clinvar/225094 ^@ NM_012330.3(KAT6B):c.3263dupA (p.Glu1089Argfs) http://identifiers.org/clinvar/225004 ^@ NM_001080463.1(DYNC2H1):c.3458G>A (p.Arg1153Gln) http://identifiers.org/clinvar/225033 ^@ NM_001080463.1(DYNC2H1):c.10669T>C (p.Ser3557Pro) http://identifiers.org/clinvar/225062 ^@ NM_000019.3(ACAT1):c.757G>A (p.Asp253Asn) http://identifiers.org/clinvar/225079 ^@ NM_022370.3(ROBO3):c.2020C>T (p.Arg674Cys) http://identifiers.org/clinvar/225071 ^@ NM_031418.3(ANO3):c.922A>C (p.Ile308Leu) http://identifiers.org/clinvar/225052 ^@ NM_001105540.1(DGKZ):c.1678C>T (p.Pro560Ser) http://identifiers.org/clinvar/225095 ^@ NM_030962.3(SBF2):c.3857T>C (p.Val1286Ala) http://identifiers.org/clinvar/225113 ^@ NM_030962.3(SBF2):c.3602A>G (p.His1201Arg) http://identifiers.org/clinvar/225042 ^@ NM_015275.2(WASHC4):c.878G>A (p.Arg293Gln) http://identifiers.org/clinvar/225041 ^@ NM_130466.3(UBE3B):c.61G>T (p.Glu21Ter) http://identifiers.org/clinvar/225100 ^@ NM_014191.3(SCN8A):c.4859G>T (p.Arg1620Leu) http://identifiers.org/clinvar/225010 ^@ NM_024685.3(BBS10):c.145C>T (p.Arg49Trp) http://identifiers.org/clinvar/225072 ^@ NM_052867.2(NALCN):c.4197+1G>A http://identifiers.org/clinvar/225108 ^@ NM_052867.2(NALCN):c.2203C>T (p.Arg735Ter) http://identifiers.org/clinvar/225053 ^@ NM_001145.4(ANG):c.406C>T (p.Pro136Ser) http://identifiers.org/clinvar/225093 ^@ NM_005249.4(FOXG1):c.776C>G (p.Pro259Arg) http://identifiers.org/clinvar/224999 ^@ NM_152447.4(LRFN5):c.575C>T (p.Ser192Phe) http://identifiers.org/clinvar/225025 ^@ NM_152447.4(LRFN5):c.869C>T (p.Thr290Ile) http://identifiers.org/clinvar/224987 ^@ NM_015346.3(ZFYVE26):c.7195C>T (p.Gln2399Ter) http://identifiers.org/clinvar/225014 ^@ NM_015346.3(ZFYVE26):c.3935C>A (p.Ser1312Ter) http://identifiers.org/clinvar/225090 ^@ NM_003384.2(VRK1):c.1068+1G>A http://identifiers.org/clinvar/225032 ^@ NM_001040616.2(LINS1):c.1394+1G>T http://identifiers.org/clinvar/225089 ^@ NM_014783.5(ARHGAP11A):c.2370_2371delAT (p.Cys791Terfs) http://identifiers.org/clinvar/224984 ^@ NM_001036.4(RYR3):c.4991G>C (p.Gly1664Ala) http://identifiers.org/clinvar/225011 ^@ NM_001036.4(RYR3):c.8569A>G (p.Lys2857Glu) http://identifiers.org/clinvar/224996 ^@ NM_001004439.1(ITGA11):c.3443G>T (p.Ser1148Ile) http://identifiers.org/clinvar/225023 ^@ NM_001004439.1(ITGA11):c.2462C>T (p.Thr821Met) http://identifiers.org/clinvar/225092 ^@ NM_013227.3(ACAN):c.2953A>G (p.Thr985Ala) http://identifiers.org/clinvar/225112 ^@ NM_013227.3(ACAN):c.6313G>A (p.Ala2105Thr) http://identifiers.org/clinvar/225056 ^@ NM_001009944.2(PKD1):c.9564_9566delCAA (p.Asn3188del) http://identifiers.org/clinvar/225007 ^@ NM_181079.4(IL21R):c.533A>G (p.Tyr178Cys) http://identifiers.org/clinvar/225037 ^@ NM_181079.4(IL21R):c.1099G>A (p.Gly367Ser) http://identifiers.org/clinvar/225047 ^@ NM_138736.2(GNAO1):c.133G>C (p.Gly45Arg) http://identifiers.org/clinvar/225012 ^@ NM_006885.3(ZFHX3):c.8707A>G (p.Ser2903Gly) http://identifiers.org/clinvar/224985 ^@ NM_006885.3(ZFHX3):c.6850C>T (p.Arg2284Ter) http://identifiers.org/clinvar/224983 ^@ NM_005548.2(KARS):c.599C>T (p.Pro200Leu) http://identifiers.org/clinvar/225009 ^@ NM_005548.2(KARS):c.22G>T (p.Glu8Ter) http://identifiers.org/clinvar/224986 ^@ NM_000135.2(FANCA):c.2941T>C (p.Cys981Arg) http://identifiers.org/clinvar/224990 ^@ NM_000833.4(GRIN2A):c.1841A>G (p.Asn614Ser) http://identifiers.org/clinvar/225016 ^@ NM_000833.4(GRIN2A):c.1271C>T (p.Pro424Leu) http://identifiers.org/clinvar/225103 ^@ NM_002472.2(MYH8):c.1264C>T (p.Gln422Ter) http://identifiers.org/clinvar/225045 ^@ NM_002055.4(GFAP):c.235delC (p.Arg79Alafs) http://identifiers.org/clinvar/225024 ^@ NM_001080424.2(KDM6B):c.625G>T (p.Val209Leu) http://identifiers.org/clinvar/224997 ^@ NM_001080424.2(KDM6B):c.1970C>T (p.Pro657Leu) http://identifiers.org/clinvar/225114 ^@ NM_000152.4(GAA):c.854C>G (p.Pro285Arg) http://identifiers.org/clinvar/225008 ^@ NM_001242875.2(ELP2):c.812A>G (p.His271Arg) http://identifiers.org/clinvar/225038 ^@ NM_001242875.2(ELP2):c.1579C>T (p.Arg527Trp) http://identifiers.org/clinvar/225001 ^@ NM_020964.2(EPG5):c.4169A>G (p.Tyr1390Cys) http://identifiers.org/clinvar/225029 ^@ NM_020964.2(EPG5):c.4039A>C (p.Asn1347His) http://identifiers.org/clinvar/225096 ^@ NM_001128849.1(SMARCA4):c.2348T>C (p.Leu783Pro) http://identifiers.org/clinvar/225097 ^@ NM_000527.4(LDLR):c.190+4A>T http://identifiers.org/clinvar/224982 ^@ NM_003721.3(RFXANK):c.438+1G>T http://identifiers.org/clinvar/224998 ^@ NM_000540.2(RYR1):c.10347+1G>A http://identifiers.org/clinvar/225063 ^@ NM_001985.2(ETFB):c.278dupC (p.Ala94Serfs) http://identifiers.org/clinvar/225006 ^@ NM_024120.4(NDUFAF5):c.155A>C (p.Lys52Thr) http://identifiers.org/clinvar/225036 ^@ NM_024120.4(NDUFAF5):c.836T>G (p.Met279Arg) http://identifiers.org/clinvar/225059 ^@ NM_198994.2(TGM6):c.115A>T (p.Ser39Cys) http://identifiers.org/clinvar/225099 ^@ NM_020433.4(JPH2):c.692G>A (p.Arg231Gln) http://identifiers.org/clinvar/225017 ^@ NM_022095.3(ZNF335):c.3332G>T (p.Arg1111Leu) http://identifiers.org/clinvar/225087 ^@ NM_003024.2(ITSN1):c.2227G>T (p.Val743Leu) http://identifiers.org/clinvar/224992 ^@ NM_006031.5(PCNT):c.2728C>T (p.Gln910Ter) http://identifiers.org/clinvar/225019 ^@ NM_006031.5(PCNT):c.3593_3594insGGCCC (p.Leu1200Argfs) http://identifiers.org/clinvar/225057 ^@ NM_021076.3(NEFH):c.1859C>T (p.Ser620Phe) http://identifiers.org/clinvar/224988 ^@ NM_001098.2(ACO2):c.1181G>A (p.Gly394Glu) http://identifiers.org/clinvar/225015 ^@ NM_001098.2(ACO2):c.1722G>C (p.Trp574Cys) http://identifiers.org/clinvar/225067 ^@ NM_002025.3(AFF2):c.1445G>C (p.Gly482Ala) http://identifiers.org/clinvar/225046 ^@ NM_001001344.2(ATP2B3):c.3338C>T (p.Thr1113Met) http://identifiers.org/clinvar/225066 ^@ NM_004006.2(DMD):c.6067C>T (p.Leu2023Phe) http://identifiers.org/clinvar/225070 ^@ NM_004006.2(DMD):c.4205A>G (p.Asp1402Gly) http://identifiers.org/clinvar/225085 ^@ NM_003688.3(CASK):c.1289G>A (p.Arg430His) http://identifiers.org/clinvar/225101 ^@ NM_000240.3(MAOA):c.137A>G (p.Asp46Gly) http://identifiers.org/clinvar/225086 ^@ NM_020717.3(SHROOM4):c.3998G>A (p.Arg1333Gln) http://identifiers.org/clinvar/225076 ^@ NM_006306.3(SMC1A):c.3578T>G (p.Phe1193Cys) http://identifiers.org/clinvar/225050 ^@ NM_015185.2(ARHGEF9):c.1012C>T (p.Arg338Trp) http://identifiers.org/clinvar/225074 ^@ NM_002547.2(OPHN1):c.2363G>A (p.Arg788Gln) http://identifiers.org/clinvar/225091 ^@ NM_005120.2(MED12):c.3413G>A (p.Arg1138Gln) http://identifiers.org/clinvar/225118 ^@ NM_007214.4(SEC63):c.452+1G>A http://identifiers.org/clinvar/225119 ^@ PDE6A, IVS10AS, A-G, -2 http://identifiers.org/clinvar/225120 ^@ NM_130837.2(OPA1):c.1817G>A (p.Cys606Tyr) http://identifiers.org/clinvar/225121 ^@ NM_130837.2(OPA1):c.2635C>T (p.Arg879Ter) http://identifiers.org/clinvar/225122 ^@ NM_130837.2(OPA1):c.1369G>A (p.Val457Met) http://identifiers.org/clinvar/225123 ^@ NM_015560.2(OPA1):c.1705+1G>T http://identifiers.org/clinvar/225124 ^@ NM_130837.2(OPA1):c.1766T>G (p.Leu589Arg) http://identifiers.org/clinvar/225125 ^@ NM_007214.4(SEC63):c.220delG (p.Val74Terfs) http://identifiers.org/clinvar/225126 ^@ NM_001903.4(CTNNA1):c.953T>C (p.Leu318Ser) http://identifiers.org/clinvar/225127 ^@ NM_001903.4(CTNNA1):c.1293T>G (p.Ile431Met) http://identifiers.org/clinvar/225128 ^@ NM_001903.4(CTNNA1):c.919G>A (p.Glu307Lys) http://identifiers.org/clinvar/225129 ^@ NM_006763.2(BTG2):c.421G>A (p.Val141Met) http://identifiers.org/clinvar/225136 ^@ NM_000277.1(PAH):c.1172G>C (p.Ser391Thr) http://identifiers.org/clinvar/225135 ^@ NM_000277.1(PAH):c.800A>T (p.Gln267Leu) http://identifiers.org/clinvar/225134 ^@ NM_000277.1(PAH):c.320A>G (p.His107Arg) http://identifiers.org/clinvar/225133 ^@ NM_000277.1(PAH):c.110T>C (p.Leu37Pro) http://identifiers.org/clinvar/225137 ^@ NC_000008.10:g.118825108_119054752dup229645 http://identifiers.org/clinvar/225266 ^@ NM_000375.2(UROS):c.-203T>C http://identifiers.org/clinvar/225268 ^@ NM_000375.2(UROS):c.-219C>A http://identifiers.org/clinvar/225269 ^@ NM_000375.2(UROS):c.-223C>A http://identifiers.org/clinvar/225144 ^@ NM_014625.3(NPHS2):c.-51G>T http://identifiers.org/clinvar/242409 ^@ NM_014625.3(NPHS2):c.-52C>G http://identifiers.org/clinvar/225145 ^@ NM_000158.3(GBE1):c.2053-3358_2053-3350delGTGTGGTGGinsTGTTTTTTACATGACAGGT http://identifiers.org/clinvar/225147 ^@ NM_002336.2(LRP6):c.4593delC (p.Cys1532Alafs) http://identifiers.org/clinvar/225160 ^@ NM_002336.2(LRP6):c.4298C>T (p.Ser1433Leu) http://identifiers.org/clinvar/225159 ^@ NM_002336.2(LRP6):c.4136G>A (p.Gly1379Asp) http://identifiers.org/clinvar/225153 ^@ NM_002336.2(LRP6):c.4082-2A>G http://identifiers.org/clinvar/225148 ^@ NM_002336.2(LRP6):c.3398-2A>C http://identifiers.org/clinvar/225158 ^@ NM_002336.2(LRP6):c.3365A>C (p.Asp1122Ala) http://identifiers.org/clinvar/225157 ^@ NM_002336.2(LRP6):c.2995G>C (p.Gly999Arg) http://identifiers.org/clinvar/225152 ^@ NM_002336.2(LRP6):c.2994+1G>A http://identifiers.org/clinvar/225156 ^@ NM_002336.2(LRP6):c.2058C>G (p.Ile686Met) http://identifiers.org/clinvar/225155 ^@ NM_002336.2(LRP6):c.1620G>T (p.Leu540Phe) http://identifiers.org/clinvar/225151 ^@ NM_002336.2(LRP6):c.1609G>A (p.Gly537Arg) http://identifiers.org/clinvar/225150 ^@ NM_002336.2(LRP6):c.1406C>T (p.Pro469Leu) http://identifiers.org/clinvar/225154 ^@ NM_002336.2(LRP6):c.1004G>T (p.Arg335Leu) http://identifiers.org/clinvar/225149 ^@ NM_002336.2(LRP6):c.517C>G (p.Arg173Gly) http://identifiers.org/clinvar/225167 ^@ 19-bp insertion/deletion http://identifiers.org/clinvar/225169 ^@ MspI polymorphic site in intron 9 http://identifiers.org/clinvar/225170 ^@ NM_001904.3(CTNNB1):c.1434_1435insC (p.Glu479Argfs) http://identifiers.org/clinvar/225171 ^@ NM_001904.3(CTNNB1):c.2128C>T (p.Arg710Cys) http://identifiers.org/clinvar/225172 ^@ NM_001904.3(CTNNB1):c.2142_2157dup16 (p.His720Terfs) http://identifiers.org/clinvar/225173 ^@ NM_001127217.2(SMAD9):c.268G>A (p.Val90Met) http://identifiers.org/clinvar/225174 ^@ NM_058246.3(DNAJB6):c.298T>G (p.Phe100Val) http://identifiers.org/clinvar/225175 ^@ NM_058246.3(DNAJB6):c.271T>A (p.Phe91Ile) http://identifiers.org/clinvar/225176 ^@ NM_058246.3(DNAJB6):c.273C>G (p.Phe91Leu) http://identifiers.org/clinvar/225177 ^@ NM_058246.3(DNAJB6):c.346+5G>A http://identifiers.org/clinvar/225178 ^@ NM_025136.3(OPA3):c.235C>G (p.Leu79Val) http://identifiers.org/clinvar/225179 ^@ NM_000527.4(LDLR):c.355G>A (p.Gly119Arg) http://identifiers.org/clinvar/225180 ^@ NM_000527.4(LDLR):c.660_661insTG (p.Asp221Trpfs) http://identifiers.org/clinvar/225181 ^@ NM_000527.4(LDLR):c.1004G>A (p.Gly335Asp) http://identifiers.org/clinvar/225182 ^@ NM_000527.4(LDLR):c.1252G>A (p.Glu418Lys) http://identifiers.org/clinvar/225183 ^@ NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) http://identifiers.org/clinvar/225188 ^@ NM_172250.2(MMAA):c.562+1G>A http://identifiers.org/clinvar/225189 ^@ NM_172250.2(MMAA):c.1025T>G (p.Met342Arg) http://identifiers.org/clinvar/225184 ^@ NM_000255.3(MUT):c.1038_1040delTCT (p.Leu347del) http://identifiers.org/clinvar/225185 ^@ NM_000255.3(MUT):c.653A>G (p.Gln218Arg) http://identifiers.org/clinvar/225186 ^@ NM_052845.3(MMAB):c.563T>G (p.Val188Gly) http://identifiers.org/clinvar/225187 ^@ NM_052845.3(MMAB):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/225193 ^@ NM_001144967.2(NEDD4L):c.2036A>G (p.Tyr679Cys) http://identifiers.org/clinvar/225192 ^@ NM_001144967.2(NEDD4L):c.2082G>T (p.Gln694His) http://identifiers.org/clinvar/225191 ^@ NM_001144967.2(NEDD4L):c.2677G>A (p.Glu893Lys) http://identifiers.org/clinvar/225190 ^@ NM_001144967.2(NEDD4L):c.2690G>A (p.Arg897Gln) http://identifiers.org/clinvar/225196 ^@ NM_000206.2(IL2RG):c.677G>A (p.Arg226His) http://identifiers.org/clinvar/225195 ^@ NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) http://identifiers.org/clinvar/225194 ^@ NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) http://identifiers.org/clinvar/225200 ^@ NM_152296.4(ATP1A3):c.946G>A (p.Gly316Ser) http://identifiers.org/clinvar/225201 ^@ NM_018283.3(NUDT15):c.415C>T (p.Arg139Cys) http://identifiers.org/clinvar/225202 ^@ NM_018283.3(NUDT15):c.416G>A (p.Arg139His) http://identifiers.org/clinvar/225203 ^@ NM_018283.3(NUDT15):c.52G>A (p.Val18Ile) http://identifiers.org/clinvar/225204 ^@ NM_018283.3(NUDT15):c.50_55dupGAGTCG (p.Val18_Val19insGlyVal) http://identifiers.org/clinvar/225205 ^@ NM_032380.4(GFM2):c.206+4A>G http://identifiers.org/clinvar/225206 ^@ NM_032380.4(GFM2):c.2029-1G>A http://identifiers.org/clinvar/225222 ^@ NM_004004.5(GJB2):c.598G>A (p.Gly200Arg) http://identifiers.org/clinvar/225223 ^@ NM_004004.5(GJB2):c.385G>T (p.Glu129Ter) http://identifiers.org/clinvar/225224 ^@ NM_181442.3(ADNP):c.3279_3280insCC (p.Gly1094Profs) http://identifiers.org/clinvar/225226 ^@ NM_001127500.2(MET):c.3064_3082+8del http://identifiers.org/clinvar/225227 ^@ NM_001127500.2(MET):c.3082+1G>T http://identifiers.org/clinvar/225228 ^@ NM_018196.3(TMLHE):c.229C>T (p.Arg77Ter) http://identifiers.org/clinvar/225229 ^@ NM_018196.3(TMLHE):c.730G>C (p.Asp244His) http://identifiers.org/clinvar/225230 ^@ NM_018196.3(TMLHE):c.1107G>T (p.Glu369Asp) http://identifiers.org/clinvar/225231 ^@ NM_018196.3(TMLHE):c.961_962delAT (p.Ile321Leufs) http://identifiers.org/clinvar/225232 ^@ NM_000409.4(GUCA1A):c.250C>T (p.Leu84Phe) http://identifiers.org/clinvar/225233 ^@ NM_000409.4(GUCA1A):c.320T>C (p.Ile107Thr) http://identifiers.org/clinvar/225235 ^@ NM_001163435.2(TBCK):c.376C>T (p.Arg126Ter) http://identifiers.org/clinvar/225236 ^@ NM_001163435.2(TBCK):c.1363A>T (p.Lys455Ter) http://identifiers.org/clinvar/225237 ^@ NM_001163436.2(TBCK):c.1532G>A (p.Arg511His) http://identifiers.org/clinvar/225238 ^@ NM_001163436.2(TBCK):c.831_832insTA (p.Pro278Tyrfs) http://identifiers.org/clinvar/225239 ^@ NM_001163436.2(TBCK):c.2060-2A>G http://identifiers.org/clinvar/225240 ^@ NM_001163436.2(TBCK):c.803_806delTGAA (p.Met268Argfs) http://identifiers.org/clinvar/225241 ^@ NM_001163436.2(TBCK):c.1370delA (p.Asn457Thrfs) http://identifiers.org/clinvar/225244 ^@ NM_032856.3(WDR73):c.888delT (p.Phe296Leufs) http://identifiers.org/clinvar/225253 ^@ NM_005120.2(MED12):c.1862G>A (p.Arg621Gln) http://identifiers.org/clinvar/225254 ^@ NM_001202468.1(ZMYND11):c.1262G>A (p.Ser421Asn) http://identifiers.org/clinvar/225259 ^@ NM_017909.3(RMND1):c.1317+1G>T http://identifiers.org/clinvar/225256 ^@ NM_017909.3(RMND1):c.1303C>T (p.Leu435Phe) http://identifiers.org/clinvar/225261 ^@ NM_017909.3(RMND1):c.830+1G>A http://identifiers.org/clinvar/225260 ^@ NM_017909.3(RMND1):c.631G>A (p.Val211Met) http://identifiers.org/clinvar/225257 ^@ NM_017909.3(RMND1):c.565C>T (p.Gln189Ter) http://identifiers.org/clinvar/225258 ^@ NM_017909.3(RMND1):c.533C>A (p.Thr178Lys) http://identifiers.org/clinvar/225267 ^@ NM_000375.2:c.-209G>A http://identifiers.org/clinvar/225274 ^@ NM_002312.3(LIG4):c.1312T>C (p.Tyr438His) http://identifiers.org/clinvar/225276 ^@ NM_198578.3(LRRK2):c.4321C>A (p.Arg1441Ser) http://identifiers.org/clinvar/225277 ^@ NM_001145661.1(GATA2):c.1021_1024dupGCCG (p.Ala342Glyfs) http://identifiers.org/clinvar/225285 ^@ NM_000157.3(GBA):c.474C>T (p.Ile158=) http://identifiers.org/clinvar/225282 ^@ NM_000069.2(CACNA1S):c.2992G>A (p.Asp998Asn) http://identifiers.org/clinvar/225281 ^@ NM_000069.2(CACNA1S):c.1547C>T (p.Ser516Leu) http://identifiers.org/clinvar/225283 ^@ NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) http://identifiers.org/clinvar/225287 ^@ NM_053025.3(MYLK):c.4292C>T (p.Pro1431Leu) http://identifiers.org/clinvar/225286 ^@ NM_000222.2(KIT):c.464C>T (p.Pro155Leu) http://identifiers.org/clinvar/225289 ^@ NM_000264.3(PTCH1):c.521C>T (p.Ala174Val) http://identifiers.org/clinvar/225280 ^@ NM_000059.3(BRCA2):c.8447G>C (p.Gly2816Ala) http://identifiers.org/clinvar/225284 ^@ NM_144606.5(FLCN):c.833C>T (p.Pro278Leu) http://identifiers.org/clinvar/225288 ^@ NM_001256849.1(POLD1):c.208G>T (p.Val70Phe) http://identifiers.org/clinvar/225327 ^@ NM_201253.2(CRB1):c.2714G>A (p.Arg905Gln) http://identifiers.org/clinvar/225448 ^@ NM_000312.3(PROC):c.577_579delAAG (p.Lys193del) http://identifiers.org/clinvar/225515 ^@ NM_025216.2(WNT10A):c.511C>T (p.Arg171Cys) http://identifiers.org/clinvar/225333 ^@ NM_000104.3(CYP1B1):c.958G>T (p.Val320Leu) http://identifiers.org/clinvar/225499 ^@ NM_033629.4(TREX1):c.294dupA (p.Cys99Metfs) http://identifiers.org/clinvar/225352 ^@ NM_000505.3(F12):c.1027G>C (p.Ala343Pro) http://identifiers.org/clinvar/225313 ^@ NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) http://identifiers.org/clinvar/225314 ^@ NM_001710.5(CFB):c.1697A>C (p.Glu566Ala) http://identifiers.org/clinvar/225318 ^@ NM_001163771.1(COL11A2):c.688G>T (p.Gly230Trp) http://identifiers.org/clinvar/225444 ^@ NM_006502.2(POLH):c.490G>T (p.Glu164Ter) http://identifiers.org/clinvar/225391 ^@ NM_052872.3(IL17F):c.254+1G>T http://identifiers.org/clinvar/225404 ^@ NM_018368.3(LMBRD1):c.981-3dupT http://identifiers.org/clinvar/225317 ^@ NM_001161520.1(COG5):c.1919T>C (p.Ile640Thr) http://identifiers.org/clinvar/225472 ^@ NM_014251.2(SLC25A13):c.852_855delTATG (p.Met285Profs) http://identifiers.org/clinvar/225460 ^@ NM_178857.5(RP1L1):c.324_325insT (p.Pro109Serfs) http://identifiers.org/clinvar/225466 ^@ NM_003018.3(SFTPC):c.115G>T (p.Val39Leu) http://identifiers.org/clinvar/225489 ^@ NM_018105.2(THAP1):c.427A>G (p.Met143Val) http://identifiers.org/clinvar/225359 ^@ NM_001079802.1(FKTN):c.607C>T (p.Arg203Ter) http://identifiers.org/clinvar/225378 ^@ NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) http://identifiers.org/clinvar/225291 ^@ NM_000352.4(ABCC8):c.824G>A (p.Arg275Gln) http://identifiers.org/clinvar/225346 ^@ NM_001201397.1(EDNRB):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/225505 ^@ NM_000369.2(TSHR):c.1349G>A (p.Arg450His) http://identifiers.org/clinvar/225368 ^@ NM_000153.3(GALC):c.1901T>C (p.Leu634Ser) http://identifiers.org/clinvar/225356 ^@ NM_000138.4(FBN1):c.3043G>A (p.Ala1015Thr) http://identifiers.org/clinvar/225469 ^@ NM_000339.2(SLC12A3):c.1732G>A (p.Val578Met) http://identifiers.org/clinvar/225411 ^@ NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) http://identifiers.org/clinvar/225306 ^@ NM_007294.3(BRCA1):c.3629dupA (p.Ser1211Valfs) http://identifiers.org/clinvar/225320 ^@ NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) http://identifiers.org/clinvar/225510 ^@ NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) http://identifiers.org/clinvar/225508 ^@ NM_003331.4(TYK2):c.209_212delGCTT (p.Cys70Serfs) http://identifiers.org/clinvar/225402 ^@ NM_000527.4(LDLR):c.344G>A (p.Arg115His) http://identifiers.org/clinvar/225423 ^@ NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) http://identifiers.org/clinvar/225367 ^@ NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) http://identifiers.org/clinvar/225495 ^@ NM_001256317.1(TMPRSS3):c.212T>C (p.Phe71Ser) http://identifiers.org/clinvar/225354 ^@ NM_000133.3(F9):c.769G>A (p.Val257Ile) http://identifiers.org/clinvar/225437 ^@ NM_000444.5(PHEX):c.10G>C (p.Glu4Gln) http://identifiers.org/clinvar/225519 ^@ NM_004586.2(RPS6KA3):c.913C>T (p.Arg305Ter) http://identifiers.org/clinvar/225520 ^@ NC_000001.10:g.144927578_153223600dup8296023 http://identifiers.org/clinvar/225521 ^@ NM_007035.3(KERA):c.320T>G (p.Ile107Arg) http://identifiers.org/clinvar/225523 ^@ NM_001289067.1(HELLS):c.2234A>G (p.Gln745Arg) http://identifiers.org/clinvar/225524 ^@ NM_001289067.1(HELLS):c.370+2T>A http://identifiers.org/clinvar/225525 ^@ NM_001289067.1(HELLS):c.2421_2424delGTCT (p.Ser808Argfs) http://identifiers.org/clinvar/225526 ^@ NM_001289067.1(HELLS):c.610A>T (p.Lys204Ter) http://identifiers.org/clinvar/225527 ^@ NM_001289067.1(HELLS):c.374_381dupTGAGGAAA (p.Lys128Terfs) http://identifiers.org/clinvar/225528 ^@ NM_001289067.1(HELLS):c.2538_2540delGTT (p.Leu847del) http://identifiers.org/clinvar/225529 ^@ NM_031942.4(CDCA7):c.1057C>T (p.Arg353Cys) http://identifiers.org/clinvar/225530 ^@ NM_031942.4(CDCA7):c.1118delG (p.Gly373Alafs) http://identifiers.org/clinvar/225531 ^@ NM_031942.4(CDCA7):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/225532 ^@ NM_031942.4(CDCA7):c.1058G>A (p.Arg353His) http://identifiers.org/clinvar/225533 ^@ NM_001129820.1(SLFN14):c.659T>A (p.Val220Asp) http://identifiers.org/clinvar/225534 ^@ NM_001129820.1(SLFN14):c.657A>T (p.Lys219Asn) http://identifiers.org/clinvar/225535 ^@ NM_001129820.1(SLFN14):c.652A>G (p.Lys218Glu) http://identifiers.org/clinvar/225536 ^@ NM_001129820.1(SLFN14):c.667C>T (p.Arg223Trp) http://identifiers.org/clinvar/225543 ^@ NM_021926.3(ALX4):c.291delG (p.Gln98Serfs) http://identifiers.org/clinvar/225544 ^@ NM_019112.3(ABCA7):c.2126_2131delAGCAGG (p.Glu709_Gln710del) http://identifiers.org/clinvar/225545 ^@ NM_019112.3(ABCA7):c.3641G>A (p.Trp1214Ter) http://identifiers.org/clinvar/225546 ^@ NM_015937.5(PIGT):c.250G>T (p.Glu84Ter) http://identifiers.org/clinvar/225550 ^@ NM_005045.3(RELN):c.5969+1G>A http://identifiers.org/clinvar/225615 ^@ NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter) http://identifiers.org/clinvar/225621 ^@ NM_001007593.2(SMPD1):c.518_519insT (p.Ser174Ilefs) http://identifiers.org/clinvar/225623 ^@ NM_001007593.2(SMPD1):c.562_563insC (p.Lys188Thrfs) http://identifiers.org/clinvar/225620 ^@ NM_001007593.2(SMPD1):c.792delG (p.Leu265Trpfs) http://identifiers.org/clinvar/225625 ^@ NM_001007593.2(SMPD1):c.949G>A (p.Val317Met) http://identifiers.org/clinvar/225622 ^@ NM_001007593.2(SMPD1):c.1488_1500delCCGTGTGTACCAA (p.Tyr496Terfs) http://identifiers.org/clinvar/225626 ^@ NM_001007593.2(SMPD1):c.1495T>A (p.Tyr499Asn) http://identifiers.org/clinvar/225624 ^@ NM_001007593.2(SMPD1):c.1670T>C (p.Leu557Pro) http://identifiers.org/clinvar/225628 ^@ NM_000138.4(FBN1):c.8175_8182delACGGGGCA (p.Arg2726Glufs) http://identifiers.org/clinvar/225629 ^@ NM_000138.4(FBN1):c.8226+1G>A http://identifiers.org/clinvar/225630 ^@ NM_021076.3(NEFH):c.3010_3011delGA (p.Asp1004Glnfs) http://identifiers.org/clinvar/225631 ^@ NM_021076.3(NEFH):c.3017_3020dupAGCC (p.Pro1008Alafs) http://identifiers.org/clinvar/225632 ^@ NM_018192.3(P3H2):c.297delC (p.Gly100Alafs) http://identifiers.org/clinvar/225633 ^@ NM_001130690.2(PDE10A):c.320A>G (p.Tyr107Cys) http://identifiers.org/clinvar/225634 ^@ NM_001130690.2(PDE10A):c.346G>C (p.Ala116Pro) http://identifiers.org/clinvar/225635 ^@ NM_001130690.2(PDE10A):c.1000T>C (p.Phe334Leu) http://identifiers.org/clinvar/225636 ^@ NM_001130690.2(PDE10A):c.898T>C (p.Phe300Leu) http://identifiers.org/clinvar/225637 ^@ NM_001127178.2(PIGG):c.928C>T (p.Gln310Ter) http://identifiers.org/clinvar/225638 ^@ NM_001127178.2(PIGG):c.2005C>T (p.Arg669Cys) http://identifiers.org/clinvar/225639 ^@ NM_001127178.2(PIGG):c.2261+1G>C http://identifiers.org/clinvar/225650 ^@ NM_000523.3(HOXD13):c.742C>T (p.Gln248Ter) http://identifiers.org/clinvar/225651 ^@ NM_000523.3(HOXD13):c.32G>C (p.Gly11Ala) http://identifiers.org/clinvar/225652 ^@ NM_000523.3(HOXD13):c.917G>A (p.Arg306Gln) http://identifiers.org/clinvar/225653 ^@ NM_000523.3(HOXD13):c.781+1G>A http://identifiers.org/clinvar/225654 ^@ NM_000523.3(HOXD13):c.683G>C (p.Gly228Ala) http://identifiers.org/clinvar/225655 ^@ NM_000523.3(HOXD13):c.973C>A (p.Gln325Lys) http://identifiers.org/clinvar/225656 ^@ NM_000523.3(HOXD13):c.916C>G (p.Arg306Gly) http://identifiers.org/clinvar/225657 ^@ NM_001111035.2(ACP5):c.131C>T (p.Thr44Met) http://identifiers.org/clinvar/225658 ^@ NM_001111035.2(ACP5):c.816dupC (p.Lys273Glnfs) http://identifiers.org/clinvar/225659 ^@ NM_001111035.2(ACP5):c.772_790del19 (p.Ser258Trpfs) http://identifiers.org/clinvar/225684 ^@ NM_004273.4(CHST3):c.1063G>A (p.Gly355Arg) http://identifiers.org/clinvar/225685 ^@ NM_022138.2(SMOC2):c.681T>A (p.Cys227Ter) http://identifiers.org/clinvar/225687 ^@ NM_002291.2(LAMB1):c.2931delG (p.Gln977Hisfs) http://identifiers.org/clinvar/225688 ^@ NM_002291.2(LAMB1):c.1442G>T (p.Cys481Phe) http://identifiers.org/clinvar/225689 ^@ NM_198291.2(SRC):c.1579G>A (p.Glu527Lys) http://identifiers.org/clinvar/225690 ^@ NM_003809.2(TNFSF12):c.433C>T (p.Arg145Cys) http://identifiers.org/clinvar/225691 ^@ B4GALT7, LEU41PRO http://identifiers.org/clinvar/225692 ^@ NM_000391.3(TPP1):c.1029G>C (p.Glu343Asp) http://identifiers.org/clinvar/242408 ^@ NM_000350.2(ABCA4):c.302+68C>T http://identifiers.org/clinvar/236116 ^@ NM_000350.2(ABCA4):c.4539+2028C>T http://identifiers.org/clinvar/225695 ^@ NC_000001.10:g.94463476_94468246del4771 http://identifiers.org/clinvar/225696 ^@ NM_001170535.2(ATAD3A):c.1582C>T (p.Arg528Trp) http://identifiers.org/clinvar/225697 ^@ NM_001170535.2(ATAD3A):c.158C>T (p.Thr53Ile) http://identifiers.org/clinvar/225732 ^@ NM_000059.3(BRCA2):c.67G>A (p.Asp23Asn) http://identifiers.org/clinvar/225733 ^@ NM_000059.3(BRCA2):c.333T>C (p.Asn111=) http://identifiers.org/clinvar/225712 ^@ NM_000059.3(BRCA2):c.425+33A>G http://identifiers.org/clinvar/225713 ^@ NM_000059.3(BRCA2):c.631+25C>T http://identifiers.org/clinvar/225734 ^@ NM_000059.3(BRCA2):c.631+31A>G http://identifiers.org/clinvar/225714 ^@ NM_000059.3(BRCA2):c.631+43G>A http://identifiers.org/clinvar/225736 ^@ NM_000059.3(BRCA2):c.682-30A>C http://identifiers.org/clinvar/225735 ^@ NM_000059.3(BRCA2):c.682-25T>C http://identifiers.org/clinvar/225737 ^@ NM_000059.3(BRCA2):c.1159G>T (p.Val387Phe) http://identifiers.org/clinvar/225715 ^@ NM_000059.3(BRCA2):c.1329delG (p.Asn444Ilefs) http://identifiers.org/clinvar/225738 ^@ NM_000059.3(BRCA2):c.1355T>C (p.Leu452Pro) http://identifiers.org/clinvar/225739 ^@ NM_000059.3(BRCA2):c.2184_2195dupTATAAAAGAAGA (p.Glu731_Glu732insAspIleLysGlu) http://identifiers.org/clinvar/225740 ^@ NM_000059.3(BRCA2):c.2695A>G (p.Asn899Asp) http://identifiers.org/clinvar/225716 ^@ NM_000059.3(BRCA2):c.3323delA (p.Lys1108Argfs) http://identifiers.org/clinvar/225741 ^@ NM_000059.3(BRCA2):c.3437A>T (p.Glu1146Val) http://identifiers.org/clinvar/225717 ^@ NM_000059.3(BRCA2):c.4615_4616delTT (p.Leu1539Glyfs) http://identifiers.org/clinvar/225742 ^@ NM_000059.3(BRCA2):c.4619_4623delACAAA (p.Asp1540Glyfs) http://identifiers.org/clinvar/225743 ^@ NM_000059.3(BRCA2):c.4648G>C (p.Glu1550Gln) http://identifiers.org/clinvar/225744 ^@ NM_000059.3(BRCA2):c.5166dupT (p.Thr1723Tyrfs) http://identifiers.org/clinvar/225745 ^@ NM_000059.3(BRCA2):c.5777G>A (p.Ser1926Asn) http://identifiers.org/clinvar/225746 ^@ NM_000059.3(BRCA2):c.5976A>G (p.Ser1992=) http://identifiers.org/clinvar/225747 ^@ NM_000059.3(BRCA2):c.6601T>C (p.Ser2201Pro) http://identifiers.org/clinvar/225748 ^@ NM_000059.3(BRCA2):c.7007+31A>T http://identifiers.org/clinvar/225750 ^@ NM_000059.3(BRCA2):c.7008-30A>G http://identifiers.org/clinvar/225749 ^@ NM_000059.3(BRCA2):c.7008-21T>C http://identifiers.org/clinvar/225751 ^@ NM_000059.3(BRCA2):c.7575delA (p.Ala2526Glnfs) http://identifiers.org/clinvar/225718 ^@ NM_000059.3(BRCA2):c.7617+39G>A http://identifiers.org/clinvar/225719 ^@ NM_000059.3(BRCA2):c.7618-19G>T http://identifiers.org/clinvar/225752 ^@ NM_000059.3(BRCA2):c.7805+25G>T http://identifiers.org/clinvar/225753 ^@ NM_000059.3(BRCA2):c.7976+23C>G http://identifiers.org/clinvar/225720 ^@ NM_000059.3(BRCA2):c.7976+35C>T http://identifiers.org/clinvar/225754 ^@ NM_000059.3(BRCA2):c.8566_8567delGAinsC (p.Glu2856Argfs) http://identifiers.org/clinvar/225755 ^@ NM_000059.3(BRCA2):c.8930delA (p.Tyr2977Phefs) http://identifiers.org/clinvar/225721 ^@ NM_000059.3(BRCA2):c.8953+34T>C http://identifiers.org/clinvar/225756 ^@ NM_000059.3(BRCA2):c.9053_9057delGTAAA (p.Ser3018Ilefs) http://identifiers.org/clinvar/225757 ^@ NM_000059.3(BRCA2):c.9117+1delG http://identifiers.org/clinvar/225722 ^@ NM_000059.3(BRCA2):c.9256+7C>T http://identifiers.org/clinvar/225724 ^@ NM_000059.3(BRCA2):c.10164A>G (p.Thr3388=) http://identifiers.org/clinvar/225731 ^@ NM_007294.3(BRCA1):c.5485G>A (p.Glu1829Lys) http://identifiers.org/clinvar/225711 ^@ NM_007294.3(BRCA1):c.5202T>G (p.Phe1734Leu) http://identifiers.org/clinvar/225710 ^@ NM_007294.3(BRCA1):c.4670A>G (p.Asp1557Gly) http://identifiers.org/clinvar/225709 ^@ NM_007294.3(BRCA1):c.4358-45A>G http://identifiers.org/clinvar/225708 ^@ NM_007294.3(BRCA1):c.4097-28A>G http://identifiers.org/clinvar/225730 ^@ NM_007294.3(BRCA1):c.3774G>A (p.Glu1258=) http://identifiers.org/clinvar/225729 ^@ NM_007294.3(BRCA1):c.1983G>A (p.Arg661=) http://identifiers.org/clinvar/225707 ^@ NM_007294.3(BRCA1):c.1600delC (p.Gln534Argfs) http://identifiers.org/clinvar/225728 ^@ NM_007294.3(BRCA1):c.1390A>G (p.Thr464Ala) http://identifiers.org/clinvar/225706 ^@ NM_007294.3(BRCA1):c.1043G>A (p.Cys348Tyr) http://identifiers.org/clinvar/225727 ^@ NM_007294.3(BRCA1):c.886delA (p.Arg296Glufs) http://identifiers.org/clinvar/225726 ^@ NM_007294.3(BRCA1):c.594-34T>C http://identifiers.org/clinvar/225705 ^@ NM_007294.3(BRCA1):c.441+36_441+49delCTTTTCTTTTTTTT http://identifiers.org/clinvar/225704 ^@ NM_007294.3(BRCA1):c.441+36_441+38delCTT http://identifiers.org/clinvar/225725 ^@ NM_007294.3(BRCA1):c.-19-22_-19-21dupAT http://identifiers.org/clinvar/225723 ^@ NM_000059.3:c.9452_9466dupinsAlu http://identifiers.org/clinvar/225758 ^@ NM_001012614.1(CTBP1):c.991C>T (p.Arg331Trp) http://identifiers.org/clinvar/225760 ^@ NM_001032393.2(HNRNPH2):c.616C>T (p.Arg206Trp) http://identifiers.org/clinvar/225761 ^@ NM_001032393.2(HNRNPH2):c.617G>A (p.Arg206Gln) http://identifiers.org/clinvar/225762 ^@ NM_007294.3(BRCA1):c.81-14C>G http://identifiers.org/clinvar/225763 ^@ NM_001257360.1(AMPD2):c.2256C>G (p.Tyr752Ter) http://identifiers.org/clinvar/225764 ^@ NM_012200.3(B3GAT3):c.419C>T (p.Pro140Leu) http://identifiers.org/clinvar/225765 ^@ NM_005186.3(CAPN1):c.884G>C (p.Arg295Pro) http://identifiers.org/clinvar/225766 ^@ NM_001198868.1(CAPN1):c.1579C>T (p.Gln527Ter) http://identifiers.org/clinvar/225767 ^@ NM_005186.3(CAPN1):c.407delC (p.Pro136Argfs) http://identifiers.org/clinvar/225768 ^@ NM_001198868.1(CAPN1):c.1605+5G>A http://identifiers.org/clinvar/225837 ^@ NM_021830.4(TWNK):c.333delT (p.Leu112Serfs) http://identifiers.org/clinvar/225838 ^@ NM_021830.4(TWNK):c.904C>T (p.Arg302Trp) http://identifiers.org/clinvar/225840 ^@ NM_002095.5(GTF2E2):c.448G>C (p.Ala150Pro) http://identifiers.org/clinvar/225841 ^@ NM_002095.5(GTF2E2):c.559G>T (p.Asp187Tyr) http://identifiers.org/clinvar/225842 ^@ NM_006015.4(ARID1A):c.5965C>T (p.Arg1989Ter) http://identifiers.org/clinvar/225843 ^@ NM_006015.4(ARID1A):c.1113delG (p.Gln372Serfs) http://identifiers.org/clinvar/225844 ^@ NM_006015.4(ARID1A):c.3679G>T (p.Glu1227Ter) http://identifiers.org/clinvar/225845 ^@ NM_003079.4(SMARCE1):c.218A>C (p.Tyr73Ser) http://identifiers.org/clinvar/225846 ^@ NM_022049.2(GPR88):c.873C>A (p.Cys291Ter) http://identifiers.org/clinvar/225857 ^@ NM_024675.3(PALB2):c.3366C>A (p.Asp1122Glu) http://identifiers.org/clinvar/225859 ^@ NM_024675.3(PALB2):c.3294G>A (p.Lys1098=) http://identifiers.org/clinvar/225851 ^@ NM_024675.3(PALB2):c.2966_2967insCAACAAGT (p.Glu990Asnfs) http://identifiers.org/clinvar/225856 ^@ NM_024675.3(PALB2):c.2755G>A (p.Val919Ile) http://identifiers.org/clinvar/225855 ^@ NM_024675.3(PALB2):c.2606C>G (p.Ser869Cys) http://identifiers.org/clinvar/225864 ^@ NM_024675.3(PALB2):c.2484C>T (p.Cys828=) http://identifiers.org/clinvar/225863 ^@ NM_024675.3(PALB2):c.2328C>T (p.Phe776=) http://identifiers.org/clinvar/225862 ^@ NM_024675.3(PALB2):c.2091C>A (p.Gly697=) http://identifiers.org/clinvar/225850 ^@ NM_024675.3(PALB2):c.1947_1966dup20 (p.Pro656Glnfs) http://identifiers.org/clinvar/225854 ^@ NM_024675.3(PALB2):c.1931G>A (p.Gly644Glu) http://identifiers.org/clinvar/225853 ^@ NM_024675.3(PALB2):c.1478C>T (p.Pro493Leu) http://identifiers.org/clinvar/225858 ^@ NM_024675.3(PALB2):c.1242A>C (p.Arg414=) http://identifiers.org/clinvar/225861 ^@ NM_024675.3(PALB2):c.1194G>T (p.Val398=) http://identifiers.org/clinvar/225852 ^@ NM_024675.3(PALB2):c.1085T>C (p.Leu362Pro) http://identifiers.org/clinvar/225849 ^@ NM_024675.3(PALB2):c.693dupA (p.Gly232Argfs) http://identifiers.org/clinvar/225848 ^@ NM_024675.3(PALB2):c.577dupA (p.Thr193Asnfs) http://identifiers.org/clinvar/225847 ^@ NM_024675.3(PALB2):c.522_523delAA (p.Arg175Thrfs) http://identifiers.org/clinvar/225860 ^@ NM_024675.3:c.3495T>G http://identifiers.org/clinvar/225865 ^@ NM_001111125.2(IQSEC2):c.2366C>T (p.Ala789Val) http://identifiers.org/clinvar/225870 ^@ NM_001136139.2(TCF3):c.1663G>A (p.Glu555Lys) http://identifiers.org/clinvar/225871 ^@ TBL1XR1, LEU282PRO http://identifiers.org/clinvar/225872 ^@ I397SFSTER19 http://identifiers.org/clinvar/225873 ^@ NM_024665.5(TBL1XR1):c.734A>G (p.Tyr245Cys) http://identifiers.org/clinvar/225874 ^@ NM_024665.5(TBL1XR1):c.1337A>G (p.Tyr446Cys) http://identifiers.org/clinvar/225875 ^@ NM_001256047.1(C19orf12):c.215C>T (p.Pro72Leu) http://identifiers.org/clinvar/225877 ^@ NM_000308.3(CTSA):c.887_888delAT (p.Tyr296Cysfs) http://identifiers.org/clinvar/225879 ^@ NM_004249.3(RAB28):c.651T>G (p.Cys217Trp) http://identifiers.org/clinvar/225878 ^@ NM_004249.3(RAB28):c.172+1G>C http://identifiers.org/clinvar/225880 ^@ NM_002108.3(HAL):c.1287+2T>C http://identifiers.org/clinvar/225881 ^@ NM_002108.3(HAL):c.964C>T (p.Arg322Ter) http://identifiers.org/clinvar/225882 ^@ NM_002108.3(HAL):c.308+1G>A http://identifiers.org/clinvar/225884 ^@ NM_177438.2(DICER1):c.5103C>A (p.Tyr1701Ter) http://identifiers.org/clinvar/225883 ^@ NM_177438.2(DICER1):c.4754C>G (p.Ser1585Ter) http://identifiers.org/clinvar/225885 ^@ NM_177438.2(DICER1):c.4633dupT (p.Ser1545Phefs) http://identifiers.org/clinvar/225888 ^@ NM_177438.2(DICER1):c.4407_4410delTTCT (p.Ser1470Leufs) http://identifiers.org/clinvar/225887 ^@ NM_177438.2(DICER1):c.4050+1G>A http://identifiers.org/clinvar/225886 ^@ NM_177438.2(DICER1):c.1498A>T (p.Lys500Ter) http://identifiers.org/clinvar/225889 ^@ NM_002465.3(MYBPC1):c.742G>A (p.Glu248Lys) http://identifiers.org/clinvar/225890 ^@ NM_170740.1(ALDH5A1):c.1382+1_1382+3delinsTT http://identifiers.org/clinvar/225891 ^@ NM_205768.2(ZBTB18):c.1118delG (p.Ser373Thrfs) http://identifiers.org/clinvar/225892 ^@ NM_205768.2(ZBTB18):c.1183C>T (p.Gln395Ter) http://identifiers.org/clinvar/225899 ^@ NM_006772.2(SYNGAP1):c.3494C>T (p.Ser1165Leu) http://identifiers.org/clinvar/225898 ^@ NM_001429.3(EP300):c.6574_6585delCAGCAGCAACAG (p.Gln2192_Gln2195del) http://identifiers.org/clinvar/225896 ^@ NM_001136024.3(NHS):c.163C>T (p.Gln55Ter) http://identifiers.org/clinvar/225894 ^@ NM_001193417.2(DDX3X):c.529G>T (p.Gly177Ter) http://identifiers.org/clinvar/225893 ^@ NM_001193417.2(DDX3X):c.856G>A (p.Gly286Ser) http://identifiers.org/clinvar/225895 ^@ NM_001029896.1(WDR45):c.777delT (p.Thr260Leufs) http://identifiers.org/clinvar/225897 ^@ NM_005120.2(MED12):c.1562G>A (p.Arg521His) http://identifiers.org/clinvar/225904 ^@ NM_001277059.1(ERCC6):c.2237G>A (p.Gly746Asp) http://identifiers.org/clinvar/225905 ^@ NM_000124.3(ERCC6):c.643G>T (p.Glu215Ter) http://identifiers.org/clinvar/225924 ^@ NM_012200.3(B3GAT3):c.667G>A (p.Gly223Ser) http://identifiers.org/clinvar/225925 ^@ NM_013334.3(GMPPB):c.859C>T (p.Arg287Trp) http://identifiers.org/clinvar/225926 ^@ NM_013334.3(GMPPB):c.760G>A (p.Val254Met) http://identifiers.org/clinvar/225927 ^@ NM_013334.3(GMPPB):c.308C>T (p.Pro103Leu) http://identifiers.org/clinvar/226124 ^@ NG_012570.1:g.7766_7770delTAGGTinsAA http://identifiers.org/clinvar/225973 ^@ NM_002004.3(FDPS):c.-1-98T>G http://identifiers.org/clinvar/225994 ^@ NM_001127593.1(FCGR3A):c.526T>G (p.Phe176Val) http://identifiers.org/clinvar/226007 ^@ NM_000130.4(F5):c.1601G= (p.Arg534=) http://identifiers.org/clinvar/225991 ^@ NM_000959.3(PTGFR):c.-562T>C http://identifiers.org/clinvar/225993 ^@ NM_021027.2(UGT1A9):c.-127delT http://identifiers.org/clinvar/225968 ^@ NM_007120.2(UGT1A4):c.142T>G (p.Leu48Val) http://identifiers.org/clinvar/226029 ^@ NM_000463.2(UGT1A1):c.-364C>T http://identifiers.org/clinvar/225998 ^@ NM_001963.5(EGF):c.-382A>G http://identifiers.org/clinvar/225953 ^@ NM_025221.5(KCNIP4):c.62-506862C>T http://identifiers.org/clinvar/225966 ^@ NM_001076.3(UGT2B15):c.253T>G (p.Tyr85Asp) http://identifiers.org/clinvar/226008 ^@ NM_001075.5(UGT2B10):c.199G>T (p.Asp67Tyr) http://identifiers.org/clinvar/225958 ^@ NM_000859.2(HMGCR):c.451-174A>T http://identifiers.org/clinvar/225937 ^@ NM_000024.5(ADRB2):c.46A= (p.Arg16=) http://identifiers.org/clinvar/226018 ^@ NM_145867.1(LTC4S):c.-444A>C http://identifiers.org/clinvar/225938 ^@ NM_005577.2(LPA):c.3947+467T>C http://identifiers.org/clinvar/225964 ^@ NM_000594.3(TNF):c.-488G>A http://identifiers.org/clinvar/226001 ^@ NM_001145775.2(FKBP5):c.-20+18122T>C http://identifiers.org/clinvar/225970 ^@ NM_001289020.1(KIF6):c.2104T>C (p.Trp702Arg) http://identifiers.org/clinvar/225988 ^@ NM_001219.4(CALU):c.582+133A>G http://identifiers.org/clinvar/226023 ^@ NM_001202481.1(CRHR2):c.-166-546T>A http://identifiers.org/clinvar/226022 ^@ NM_006379.3(SEMA3C):c.103+13883A>G http://identifiers.org/clinvar/225939 ^@ NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=) http://identifiers.org/clinvar/226021 ^@ NM_000777.4(CYP3A5):c.219-237G>A http://identifiers.org/clinvar/226011 ^@ NM_001039350.2(DPP6):c.52-71279T>C http://identifiers.org/clinvar/226012 ^@ NM_152888.2(COL22A1):c.658+5484G>A http://identifiers.org/clinvar/225954 ^@ NM_052958.3(C8orf34):c.736+8162C>G http://identifiers.org/clinvar/225936 ^@ NM_000962.3(PTGS1):c.-842A>G http://identifiers.org/clinvar/225947 ^@ NC_000010.11:g.94645745G>A http://identifiers.org/clinvar/225946 ^@ NM_000769.2(CYP2C19):c.-806C>A http://identifiers.org/clinvar/226024 ^@ NM_000771.3(CYP2C9):c.449G>A (p.Arg150His) http://identifiers.org/clinvar/225997 ^@ NM_000771.3(CYP2C9):c.820-6326A>C http://identifiers.org/clinvar/225984 ^@ NM_000771.3(CYP2C9):c.1080C>G (p.Asp360Glu) http://identifiers.org/clinvar/225995 ^@ NM_006446.4(SLCO1B1):c.-910G>A http://identifiers.org/clinvar/226017 ^@ NC_000012.12:g.69430244C>T http://identifiers.org/clinvar/226025 ^@ NM_000621.4(HTR2A):c.614-2211T>C http://identifiers.org/clinvar/225959 ^@ NM_005845.4(ABCC4):c.3348G>A (p.Lys1116=) http://identifiers.org/clinvar/225957 ^@ NC_000015.10:g.45328787C>T http://identifiers.org/clinvar/225951 ^@ NM_001321015.1(GATM):c.-396-270A>G http://identifiers.org/clinvar/226030 ^@ NM_024006.5(VKORC1):c.-1639G>T http://identifiers.org/clinvar/226015 ^@ NG_011564.1:g.296C>T http://identifiers.org/clinvar/226016 ^@ NM_024006.5(VKORC1):c.*134G>A http://identifiers.org/clinvar/225975 ^@ NM_024006.5(VKORC1):c.283+837T>C http://identifiers.org/clinvar/226026 ^@ NM_024006.5(VKORC1):c.283+124G>C http://identifiers.org/clinvar/225960 ^@ NM_024006.5(VKORC1):c.173+525C>T http://identifiers.org/clinvar/225983 ^@ NM_024006.5(VKORC1):c.173+324T>G http://identifiers.org/clinvar/225955 ^@ NM_000078.2(CETP):c.658+186C>A http://identifiers.org/clinvar/225971 ^@ NM_001199280.1(HAS3):c.279A>G (p.Ala93=) http://identifiers.org/clinvar/225948 ^@ NM_152908.3(SLC47A2):c.-130C>T http://identifiers.org/clinvar/225965 ^@ NM_001145146.1(CRHR1):c.1194+111C>T http://identifiers.org/clinvar/226006 ^@ NM_000173.6(GP1BA):c.482C>T (p.Thr161Met) http://identifiers.org/clinvar/225956 ^@ NM_002737.2(PRKCA):c.1854+3730G>A http://identifiers.org/clinvar/225996 ^@ NM_001144968.1(NEDD4L):c.24G>A (p.Gln8=) http://identifiers.org/clinvar/225961 ^@ NC_000018.10:g.60183864T>C http://identifiers.org/clinvar/226003 ^@ NC_000018.10:g.60215554C>A http://identifiers.org/clinvar/225989 ^@ NR_074079.1(IFNL4):n.342_343delAAinsC http://identifiers.org/clinvar/225969 ^@ NM_001082.4(CYP4F2):c.1297G>A (p.Val433Met) http://identifiers.org/clinvar/225949 ^@ NM_001276254.2(IFNL4):c.151-152G>A http://identifiers.org/clinvar/226027 ^@ NC_000019.10:g.39252525T>G http://identifiers.org/clinvar/226002 ^@ NM_000767.4(CYP2B6):c.485-18C>T http://identifiers.org/clinvar/225985 ^@ NM_000767.4(CYP2B6):c.983T>C (p.Ile328Thr) http://identifiers.org/clinvar/225976 ^@ NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg) http://identifiers.org/clinvar/225987 ^@ NM_001983.3(ERCC1):c.*197G>T http://identifiers.org/clinvar/225945 ^@ NM_202001.2(ERCC1):c.354T>C (p.Asn118=) http://identifiers.org/clinvar/225941 ^@ NM_001236.3(CBR3):c.730G>A (p.Val244Met) http://identifiers.org/clinvar/225950 ^@ NM_000754.3(COMT):c.-485C>T http://identifiers.org/clinvar/226014 ^@ NM_001025195.1(CES1):c.431G>A (p.Gly144Glu) http://identifiers.org/clinvar/226004 ^@ NM_002075.3(GNB3):c.825C>T (p.Ser275=) http://identifiers.org/clinvar/225992 ^@ NM_001256760.2(HTR2C):c.-850C>T http://identifiers.org/clinvar/225952 ^@ NM_001256760.2(HTR2C):c.551-3008C>G http://identifiers.org/clinvar/225940 ^@ NM_001145909.1(TANC1):c.-125-6169A>C http://identifiers.org/clinvar/225942 ^@ NM_152587.3(C11orf65):c.175-5285G>T http://identifiers.org/clinvar/225943 ^@ NC_000007.14:g.55020563_55020564CA[9][14][15][16][17][18][19][20][21][22][23] http://identifiers.org/clinvar/225944 ^@ NM_012229.4(NT5C2):c.175+1178A>G http://identifiers.org/clinvar/225963 ^@ NM_000795.3(DRD2):c.-585A>G http://identifiers.org/clinvar/225967 ^@ NM_014619.4(GRIK4):c.83-10039T>C http://identifiers.org/clinvar/225977 ^@ NM_001145909.1(TANC1):c.61+13908C>A http://identifiers.org/clinvar/225978 ^@ NM_001145909.1(TANC1):c.62-3284C>G http://identifiers.org/clinvar/225979 ^@ NM_001145909.1(TANC1):c.61+6948A>G http://identifiers.org/clinvar/225986 ^@ NC_000002.12:g.207629510T>C http://identifiers.org/clinvar/225999 ^@ NM_004044.6(ATIC):c.1503+675T>C http://identifiers.org/clinvar/226000 ^@ NM_015697.7(COQ2):c.779-1022C>G http://identifiers.org/clinvar/226010 ^@ NM_001145909.1(TANC1):c.-15-22495C>T http://identifiers.org/clinvar/226013 ^@ NC_000011.10:g.103547430A>G http://identifiers.org/clinvar/226019 ^@ NM_001105563.1(CCHCR1):c.1473-597T>C http://identifiers.org/clinvar/226020 ^@ NM_001145909.1(TANC1):c.-15-22919G>T http://identifiers.org/clinvar/226028 ^@ NC_000002.12:g.233760235_233760236TA[5][6][7][8] http://identifiers.org/clinvar/226031 ^@ NM_177433.2(MAGED2):c.1038C>G (p.Tyr346Ter) http://identifiers.org/clinvar/226032 ^@ NM_177433.2(MAGED2):c.991-2A>G http://identifiers.org/clinvar/226033 ^@ NM_177433.2(MAGED2):c.386_387delTG (p.Val129Glyfs) http://identifiers.org/clinvar/226034 ^@ NM_177433.2(MAGED2):c.1336C>T (p.Arg446Cys) http://identifiers.org/clinvar/226035 ^@ NM_177433.2(MAGED2):c.397A>T (p.Lys133Ter) http://identifiers.org/clinvar/226036 ^@ NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp) http://identifiers.org/clinvar/226037 ^@ NM_001035.2(RYR2):c.4196C>A (p.Thr1399Lys) http://identifiers.org/clinvar/226038 ^@ NM_053025.3(MYLK):c.2533C>T (p.Arg845Cys) http://identifiers.org/clinvar/226040 ^@ NM_000118.3(ENG):c.1282A>C (p.Asn428His) http://identifiers.org/clinvar/226041 ^@ NM_000118.3(ENG):c.596G>A (p.Arg199His) http://identifiers.org/clinvar/226039 ^@ NM_000264.3(PTCH1):c.2306C>T (p.Thr769Ile) http://identifiers.org/clinvar/226042 ^@ NM_201596.2(CACNB2):c.121-2A>T http://identifiers.org/clinvar/226043 ^@ NM_201596.2(CACNB2):c.121-1G>T http://identifiers.org/clinvar/226044 ^@ NM_006231.3(POLE):c.2214G>C (p.Lys738Asn) http://identifiers.org/clinvar/226046 ^@ NM_000540.2(RYR1):c.4424T>C (p.Met1475Thr) http://identifiers.org/clinvar/226048 ^@ NM_004006.2(DMD):c.2972A>G (p.Glu991Gly) http://identifiers.org/clinvar/226049 ^@ NM_004006.2(DMD):c.2245A>G (p.Ile749Val) http://identifiers.org/clinvar/226045 ^@ NM_000548.4(TSC2):c.2074G>A (p.Val692Ile) http://identifiers.org/clinvar/226047 ^@ NM_001256849.1(POLD1):c.17G>A (p.Arg6Gln) http://identifiers.org/clinvar/226052 ^@ NM_000016.5(ACADM):c.-17C>G http://identifiers.org/clinvar/226085 ^@ NM_000016.5(ACADM):c.-6_6delGCCAACATGGCAinsACCCCGAAGG http://identifiers.org/clinvar/226074 ^@ NM_000016.5(ACADM):c.31-73T>C http://identifiers.org/clinvar/226080 ^@ NM_000016.5(ACADM):c.31-37C>T http://identifiers.org/clinvar/226078 ^@ NM_000016.5(ACADM):c.50G>A (p.Arg17His) http://identifiers.org/clinvar/226104 ^@ NM_000016.5(ACADM):c.107_113dupGATTTAG (p.Ser38Argfs) http://identifiers.org/clinvar/226101 ^@ NM_000016.5(ACADM):c.118+18T>A http://identifiers.org/clinvar/226050 ^@ NM_000016.5(ACADM):c.118+60delT http://identifiers.org/clinvar/226051 ^@ NM_000016.5(ACADM):c.118+62delT http://identifiers.org/clinvar/226090 ^@ NM_000016.5(ACADM):c.118+114A>G http://identifiers.org/clinvar/226066 ^@ NM_000016.5(ACADM):c.158G>A (p.Arg53His) http://identifiers.org/clinvar/226108 ^@ NM_000016.5(ACADM):c.238A>G (p.Arg80Gly) http://identifiers.org/clinvar/226097 ^@ NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) http://identifiers.org/clinvar/226064 ^@ NM_000016.5(ACADM):c.295G>A (p.Gly99Arg) http://identifiers.org/clinvar/226063 ^@ NM_000016.5(ACADM):c.296G>T (p.Gly99Val) http://identifiers.org/clinvar/226071 ^@ NM_000016.5(ACADM):c.302G>A (p.Gly101Glu) http://identifiers.org/clinvar/226102 ^@ NM_000016.5(ACADM):c.322_325delATTA (p.Ile108Valfs) http://identifiers.org/clinvar/226076 ^@ NM_000016.5(ACADM):c.346T>G (p.Cys116Gly) http://identifiers.org/clinvar/226068 ^@ NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) http://identifiers.org/clinvar/226079 ^@ NM_000016.5(ACADM):c.388-3T>G http://identifiers.org/clinvar/226055 ^@ NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) http://identifiers.org/clinvar/226062 ^@ NM_000016.5(ACADM):c.430_432delAAG (p.Lys144del) http://identifiers.org/clinvar/226059 ^@ NM_000016.5(ACADM):c.447G>T (p.Met149Ile) http://identifiers.org/clinvar/226106 ^@ NM_000016.5(ACADM):c.464T>C (p.Met155Thr) http://identifiers.org/clinvar/226092 ^@ NM_000016.5(ACADM):c.468+62C>T http://identifiers.org/clinvar/226083 ^@ NM_000016.5(ACADM):c.468+71T>C http://identifiers.org/clinvar/226107 ^@ NM_000016.5(ACADM):c.469-9A>G http://identifiers.org/clinvar/226091 ^@ NM_000016.5(ACADM):c.469-1G>A http://identifiers.org/clinvar/226072 ^@ NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) http://identifiers.org/clinvar/226056 ^@ NM_000016.5(ACADM):c.508G>T (p.Ala170Ser) http://identifiers.org/clinvar/226093 ^@ NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) http://identifiers.org/clinvar/226100 ^@ NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) http://identifiers.org/clinvar/226060 ^@ NM_000016.5(ACADM):c.599+1G>A http://identifiers.org/clinvar/226070 ^@ NM_000016.5(ACADM):c.599+5G>A http://identifiers.org/clinvar/226084 ^@ NM_000016.5(ACADM):c.600-18G>A http://identifiers.org/clinvar/226098 ^@ NM_000016.5(ACADM):c.602A>G (p.Tyr201Cys) http://identifiers.org/clinvar/226065 ^@ NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) http://identifiers.org/clinvar/226081 ^@ NM_000016.5(ACADM):c.661G>A (p.Gly221Arg) http://identifiers.org/clinvar/226082 ^@ NM_000016.5(ACADM):c.678A>G (p.Ala226=) http://identifiers.org/clinvar/226088 ^@ NM_000016.5(ACADM):c.728G>A (p.Arg243Gln) http://identifiers.org/clinvar/226089 ^@ NM_000016.5(ACADM):c.742A>G (p.Arg248Gly) http://identifiers.org/clinvar/226067 ^@ NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) http://identifiers.org/clinvar/226054 ^@ NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) http://identifiers.org/clinvar/226099 ^@ NM_000016.5(ACADM):c.817_829delGCAATGGGAGCTT (p.Ala273Leufs) http://identifiers.org/clinvar/226075 ^@ NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) http://identifiers.org/clinvar/226058 ^@ NM_000016.5(ACADM):c.907G>A (p.Ala303Thr) http://identifiers.org/clinvar/226077 ^@ NM_000016.5(ACADM):c.926dupT (p.Gly310Argfs) http://identifiers.org/clinvar/226096 ^@ NM_000016.5(ACADM):c.984delG (p.Met328Ilefs) http://identifiers.org/clinvar/226057 ^@ NM_000016.5(ACADM):c.985A>C (p.Lys329Gln) http://identifiers.org/clinvar/226087 ^@ NM_000016.5(ACADM):c.1012C>T (p.Gln338Ter) http://identifiers.org/clinvar/226103 ^@ NM_000016.5(ACADM):c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs) http://identifiers.org/clinvar/226061 ^@ NM_000016.5(ACADM):c.1057T>G (p.Tyr353Asp) http://identifiers.org/clinvar/226086 ^@ NM_000016.5(ACADM):c.1087G>A (p.Asp363Asn) http://identifiers.org/clinvar/226073 ^@ NM_000016.5(ACADM):c.1115C>A (p.Ala372Asp) http://identifiers.org/clinvar/226094 ^@ NM_000016.5(ACADM):c.1184A>C (p.Lys395Thr) http://identifiers.org/clinvar/226095 ^@ NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) http://identifiers.org/clinvar/226109 ^@ NM_000016.5(ACADM):c.1189dupT (p.Tyr397Leufs) http://identifiers.org/clinvar/226069 ^@ NM_000016.5(ACADM):c.1221_1222delAA (p.Arg408Thrfs) http://identifiers.org/clinvar/226105 ^@ NM_000016.5(ACADM):c.*39G>A http://identifiers.org/clinvar/226053 ^@ NM_000016.5(ACADM):c.*77C>T http://identifiers.org/clinvar/226110 ^@ NM_030787.3(CFHR5):c.678delA (p.Glu226Aspfs) http://identifiers.org/clinvar/226113 ^@ NM_199436.1(SPAST):c.1149+1G>A http://identifiers.org/clinvar/226115 ^@ NM_017780.3(CHD7):c.6292C>T (p.Arg2098Ter) http://identifiers.org/clinvar/226118 ^@ NM_017890.4(VPS13B):c.10240_10282del43 (p.Leu3414Valfs) http://identifiers.org/clinvar/226111 ^@ NM_005271.4(GLUD1):c.1496G>T (p.Gly499Val) http://identifiers.org/clinvar/226114 ^@ NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) http://identifiers.org/clinvar/226117 ^@ NM_006946.2(SPTBN2):c.470T>C (p.Ile157Thr) http://identifiers.org/clinvar/226112 ^@ NM_172107.3(KCNQ2):c.1639C>G (p.Arg547Gly) http://identifiers.org/clinvar/226120 ^@ NM_000425.4(L1CAM):c.2380C>T (p.Gln794Ter) http://identifiers.org/clinvar/226116 ^@ NM_003159.2(CDKL5):c.747dupT (p.Pro250Serfs) http://identifiers.org/clinvar/226119 ^@ NM_000444.5(PHEX):c.1735G>A (p.Gly579Arg) http://identifiers.org/clinvar/226122 ^@ NM_001143763.1(SYCE1):c.721C>T (p.Gln241Ter) http://identifiers.org/clinvar/226126 ^@ NM_001267550.2(TTN):c.38661_38665delGAAAA (p.Lys12887Asnfs) http://identifiers.org/clinvar/226129 ^@ NM_001031710.2(KLHL7):c.1022delT (p.Leu341Trpfs) http://identifiers.org/clinvar/226130 ^@ NM_001031710.2(KLHL7):c.1115G>A (p.Arg372Gln) http://identifiers.org/clinvar/226127 ^@ NM_001031710.2(KLHL7):c.1261T>A (p.Cys421Ser) http://identifiers.org/clinvar/226131 ^@ NC_000001.10:g.(?_168441289)_(168697617_?)del http://identifiers.org/clinvar/226132 ^@ NC_000001.10:g.(?_178806664)_(181082264_?)del http://identifiers.org/clinvar/226133 ^@ NC_000001.10:g.(?_241155581)_(241186738_?)dup http://identifiers.org/clinvar/226134 ^@ NC_000002.11:g.(?_131485402)_(132024166_?)dup http://identifiers.org/clinvar/226135 ^@ NC_000001.10:g.(?_246256444)_(246700236_?)dup http://identifiers.org/clinvar/226136 ^@ NC_000003.11:g.(?_64993928)_(65024494_?)dup http://identifiers.org/clinvar/226137 ^@ NC_000002.11:g.(?_121588391)_(121754337_?)dup http://identifiers.org/clinvar/226138 ^@ NC_000003.11:g.(?_8520585)_(8552850_?)dup http://identifiers.org/clinvar/226139 ^@ NC_000002.11:g.(?_133927604)_(133963658_?)del http://identifiers.org/clinvar/226140 ^@ NC_000002.11:g.(?_137827978)_(138371164_?)del http://identifiers.org/clinvar/226141 ^@ NC_000002.11:g.(?_149089645)_(149192958_?)del http://identifiers.org/clinvar/226142 ^@ NC_000015.9:g.(?_57711740)_(57749246_?)del http://identifiers.org/clinvar/226143 ^@ NC_000003.11:g.(?_64992802)_(65051455_?)dup http://identifiers.org/clinvar/226144 ^@ NC_000002.11:g.(?_233181492)_(233325849_?)dup http://identifiers.org/clinvar/226145 ^@ NC_000002.11:g.(?_39982433)_(40037717_?)del http://identifiers.org/clinvar/226146 ^@ NC_000002.11:g.(?_56277274)_(56381718_?)dup http://identifiers.org/clinvar/226147 ^@ NC_000002.11:g.(?_61271844)_(61368778_?)dup http://identifiers.org/clinvar/226148 ^@ NC_000002.11:g.(?_77199019)_(77249536_?)dup http://identifiers.org/clinvar/226149 ^@ NC_000002.11:g.(?_78306103)_(78697833_?)del http://identifiers.org/clinvar/226150 ^@ NC_000003.11:g.(?_108616806)_(109014594_?)dup http://identifiers.org/clinvar/226151 ^@ NC_000022.10:g.(?_26838242)_(26881031_?)del http://identifiers.org/clinvar/226152 ^@ NC_000003.11:g.(?_134978716)_(135053549_?)del http://identifiers.org/clinvar/226153 ^@ NC_000003.11:g.(?_62955270)_(62998884_?)del http://identifiers.org/clinvar/226154 ^@ NC_000003.11:g.(?_133034333)_(133089757_?)dup http://identifiers.org/clinvar/226155 ^@ NC_000008.10:g.(?_3619348)_(3650542_?)del http://identifiers.org/clinvar/226156 ^@ NC_000003.11:g.(?_76848167)_(76951689_?)del http://identifiers.org/clinvar/226157 ^@ NC_000003.11:g.(?_80453558)_(83463345_?)dup http://identifiers.org/clinvar/226158 ^@ NC_000008.10:g.(?_4323965)_(4359306_?)del http://identifiers.org/clinvar/226159 ^@ NC_000003.11:g.(?_85561190)_(85612793_?)del http://identifiers.org/clinvar/226160 ^@ NC_000002.11:g.(?_231012029)_(231089979_?)del http://identifiers.org/clinvar/226161 ^@ NC_000001.10:g.(?_213092201)_(213176992_?)del http://identifiers.org/clinvar/226162 ^@ NC_000004.11:g.(?_156745682)_(157287454_?)dup http://identifiers.org/clinvar/226163 ^@ NC_000004.11:g.(?_16922258)_(17800667_?)dup http://identifiers.org/clinvar/226164 ^@ NC_000005.9:g.(?_171395554)_(171508587_?)dup http://identifiers.org/clinvar/226165 ^@ NC_000004.11:g.(?_69668636)_(69713319_?)del http://identifiers.org/clinvar/226166 ^@ NC_000004.11:g.(?_7696394)_(7760459_?)del http://identifiers.org/clinvar/226167 ^@ NC_000005.9:g.(?_120513455)_(120921346_?)dup http://identifiers.org/clinvar/226168 ^@ NC_000005.9:g.(?_131145181)_(131266601_?)del http://identifiers.org/clinvar/226169 ^@ NC_000005.9:g.(?_16652934)_(16771046_?)dup http://identifiers.org/clinvar/226170 ^@ NC_000006.11:g.(?_35285720)_(35434273_?)dup http://identifiers.org/clinvar/226171 ^@ NC_000005.9:g.(?_25017057)_(25426009_?)dup http://identifiers.org/clinvar/226172 ^@ NC_000004.11:g.(?_125251081)_(128286629_?)del http://identifiers.org/clinvar/226173 ^@ NC_000005.9:g.(?_59718323)_(59752640_?)dup http://identifiers.org/clinvar/226174 ^@ NC_000005.9:g.(?_7198626)_(8305678_?)dup http://identifiers.org/clinvar/226175 ^@ NC_000006.11:g.(?_101950970)_(102062025_?)dup http://identifiers.org/clinvar/226176 ^@ NC_000016.9:g.(?_52464934)_(52676323_?)dup http://identifiers.org/clinvar/226177 ^@ NC_000006.11:g.(?_162201050)_(162260159_?)dup http://identifiers.org/clinvar/226178 ^@ NC_000003.11:g.(?_86387381)_(86615770_?)dup http://identifiers.org/clinvar/226179 ^@ NC_000006.11:g.(?_31969589)_(32007227_?)del http://identifiers.org/clinvar/226180 ^@ NC_000006.11:g.(?_134730991)_(135020544_?)del http://identifiers.org/clinvar/226181 ^@ NC_000007.13:g.(?_142825643)_(142890809_?)del http://identifiers.org/clinvar/226182 ^@ NC_000007.13:g.(?_143342375)_(143913713_?)dup http://identifiers.org/clinvar/226183 ^@ NC_000002.11:g.(?_111186302)_(113273657_?)dup http://identifiers.org/clinvar/226184 ^@ NC_000007.13:g.(?_157730598)_(157826278_?)dup http://identifiers.org/clinvar/226185 ^@ NC_000007.13:g.(?_17243791)_(17590700_?)dup http://identifiers.org/clinvar/226186 ^@ NC_000007.13:g.(?_40156332)_(40204960_?)dup http://identifiers.org/clinvar/226187 ^@ NC_000007.13:g.(?_6123758)_(6139997_?)del http://identifiers.org/clinvar/226188 ^@ NC_000007.13:g.(?_88645832)_(89092714_?)del http://identifiers.org/clinvar/226189 ^@ NC_000008.10:g.(?_10447116)_(10504819_?)del http://identifiers.org/clinvar/226190 ^@ NC_000008.10:g.(?_142438569)_(142482615_?)dup http://identifiers.org/clinvar/226191 ^@ NC_000008.10:g.(?_1445011)_(1797072_?)dup http://identifiers.org/clinvar/226192 ^@ NC_000008.10:g.(?_17592647)_(17859657_?)dup http://identifiers.org/clinvar/226193 ^@ NC_000009.11:g.(?_138147997)_(138238503_?)dup http://identifiers.org/clinvar/226194 ^@ NC_000008.10:g.(?_71608781)_(71646728_?)del http://identifiers.org/clinvar/226195 ^@ NC_000009.11:g.(?_136850292)_(137153876_?)dup http://identifiers.org/clinvar/226196 ^@ NC_000009.11:g.(?_8802640)_(8836439_?)del http://identifiers.org/clinvar/226197 ^@ NC_000009.11:g.(?_9919638)_(9990269_?)del http://identifiers.org/clinvar/226198 ^@ NC_000009.11:g.(?_15300542)_(15381614_?)del http://identifiers.org/clinvar/226199 ^@ NC_000010.10:g.(?_18550958)_(18583866_?)del http://identifiers.org/clinvar/226200 ^@ NC_000010.10:g.(?_18550958)_(18592873_?)del http://identifiers.org/clinvar/226201 ^@ NC_000010.10:g.(?_128328611)_(128544207_?)del http://identifiers.org/clinvar/226202 ^@ NC_000022.10:g.(?_50645586)_(50949482_?)del http://identifiers.org/clinvar/226203 ^@ NC_000023.10:g.(?_71537559)_(71609005_?)dup http://identifiers.org/clinvar/226204 ^@ NC_000010.10:g.(?_33086451)_(33279862_?)dup http://identifiers.org/clinvar/226205 ^@ NC_000010.10:g.(?_51790819)_(52167537_?)dup http://identifiers.org/clinvar/226206 ^@ NC_000010.10:g.(?_88392032)_(88422089_?)dup http://identifiers.org/clinvar/226207 ^@ NC_000010.10:g.(?_96497751)_(96560546_?)del http://identifiers.org/clinvar/226208 ^@ NC_000011.9:g.(?_101397368)_(101472351_?)dup http://identifiers.org/clinvar/226209 ^@ NC_000011.9:g.(?_103971318)_(104028957_?)dup http://identifiers.org/clinvar/226210 ^@ NC_000011.9:g.(?_1115899)_(1261163_?)del http://identifiers.org/clinvar/226211 ^@ NC_000011.9:g.(?_14865608)_(14906548_?)dup http://identifiers.org/clinvar/226212 ^@ NC_000011.9:g.(?_21836986)_(22032466_?)del http://identifiers.org/clinvar/226213 ^@ NC_000011.9:g.(?_40567422)_(40660470_?)del http://identifiers.org/clinvar/226214 ^@ NC_000015.9:g.(?_32457092)_(32771537_?)del http://identifiers.org/clinvar/226215 ^@ NC_000011.9:g.(?_76268060)_(76417696_?)dup http://identifiers.org/clinvar/226216 ^@ NC_000004.11:g.(?_187540292)_(187849681_?)dup http://identifiers.org/clinvar/226217 ^@ NC_000011.9:g.(?_99497530)_(99583304_?)del http://identifiers.org/clinvar/226218 ^@ NC_000011.9:g.(?_99519242)_(99568648_?)del http://identifiers.org/clinvar/226219 ^@ NC_000012.11:g.(?_10423943)_(10552714_?)dup http://identifiers.org/clinvar/226220 ^@ NC_000012.11:g.(?_109549884)_(109667024_?)dup http://identifiers.org/clinvar/226221 ^@ NC_000012.11:g.(?_112183225)_(112327166_?)dup http://identifiers.org/clinvar/226222 ^@ NC_000012.11:g.(?_112183921)_(112318246_?)dup http://identifiers.org/clinvar/226223 ^@ NC_000012.11:g.(?_123596909)_(123989546_?)dup http://identifiers.org/clinvar/226224 ^@ NC_000012.11:g.(?_127488730)_(127837052_?)dup http://identifiers.org/clinvar/226225 ^@ NC_000012.11:g.(?_133199968)_(133337730_?)dup http://identifiers.org/clinvar/226226 ^@ NC_000012.11:g.(?_706022)_(1125143_?)dup http://identifiers.org/clinvar/226227 ^@ NC_000012.11:g.(?_8069848)_(8101856_?)dup http://identifiers.org/clinvar/226228 ^@ NC_000012.11:g.(?_83765377)_(84013252_?)del http://identifiers.org/clinvar/226229 ^@ NC_000012.11:g.(?_95530434)_(95627379_?)dup http://identifiers.org/clinvar/226230 ^@ NC_000013.10:g.(?_19612306)_(19679872_?)del http://identifiers.org/clinvar/226231 ^@ NC_000002.11:g.(?_218647714)_(219053933_?)dup http://identifiers.org/clinvar/226232 ^@ NC_000013.10:g.(?_23803922)_(23853233_?)del http://identifiers.org/clinvar/226233 ^@ NC_000013.10:g.(?_29714684)_(29828112_?)del http://identifiers.org/clinvar/226234 ^@ NC_000013.10:g.(?_43146433)_(43187994_?)dup http://identifiers.org/clinvar/226235 ^@ NC_000013.10:g.(?_44032193)_(44171911_?)dup http://identifiers.org/clinvar/226236 ^@ NC_000013.10:g.(?_64295459)_(64400173_?)del http://identifiers.org/clinvar/226237 ^@ NC_000013.10:g.(?_85909019)_(86064348_?)del http://identifiers.org/clinvar/226238 ^@ NC_000013.10:g.(?_92958981)_(93035128_?)dup http://identifiers.org/clinvar/226239 ^@ NC_000013.10:g.(?_92979291)_(93049171_?)dup http://identifiers.org/clinvar/226240 ^@ NC_000014.8:g.(?_21353205)_(21421877_?)dup http://identifiers.org/clinvar/226241 ^@ NC_000014.8:g.(?_24947323)_(24986166_?)dup http://identifiers.org/clinvar/226242 ^@ NC_000014.8:g.(?_44928342)_(45378475_?)del http://identifiers.org/clinvar/226243 ^@ NC_000015.9:g.(?_102325461)_(102373183_?)dup http://identifiers.org/clinvar/226244 ^@ NC_000015.9:g.(?_102332446)_(102368280_?)dup http://identifiers.org/clinvar/226245 ^@ NC_000015.9:g.(?_22665220)_(23147419_?)del http://identifiers.org/clinvar/226246 ^@ NC_000016.9:g.(?_15539023)_(16291541_?)dup http://identifiers.org/clinvar/226247 ^@ NC_000015.9:g.(?_55354493)_(55956320_?)dup http://identifiers.org/clinvar/226248 ^@ NC_000022.10:g.(?_18637139)_(20289862_?)dup http://identifiers.org/clinvar/226249 ^@ NC_000015.9:g.(?_76524284)_(76625437_?)del http://identifiers.org/clinvar/226250 ^@ NC_000016.9:g.(?_15034035)_(15998820_?)dup http://identifiers.org/clinvar/226251 ^@ NC_000005.9:g.(?_53784524)_(54985838_?)del http://identifiers.org/clinvar/226252 ^@ NC_000011.9:g.(?_4371631)_(5253127_?)dup http://identifiers.org/clinvar/226253 ^@ NC_000013.10:g.(?_22688792)_(22981935_?)del http://identifiers.org/clinvar/226254 ^@ NC_000016.9:g.(?_7303708)_(7357294_?)dup http://identifiers.org/clinvar/226255 ^@ NC_000016.9:g.(?_81234781)_(81287239_?)del http://identifiers.org/clinvar/226256 ^@ NC_000016.9:g.(?_84429584)_(84490643_?)del http://identifiers.org/clinvar/226257 ^@ NC_000016.9:g.(?_84435058)_(84470476_?)del http://identifiers.org/clinvar/226258 ^@ NC_000016.9:g.(?_87738873)_(87812644_?)dup http://identifiers.org/clinvar/226259 ^@ NC_000017.10:g.(?_17316541)_(17349835_?)del http://identifiers.org/clinvar/226260 ^@ NC_000017.10:g.(?_19417785)_(19579313_?)del http://identifiers.org/clinvar/226261 ^@ NC_000017.10:g.(?_20051012)_(20592172_?)del http://identifiers.org/clinvar/226262 ^@ NC_000017.10:g.(?_25972552)_(26066964_?)del http://identifiers.org/clinvar/226263 ^@ NC_000017.10:g.(?_3505638)_(3559746_?)del http://identifiers.org/clinvar/226264 ^@ NC_000017.10:g.(?_735198)_(797669_?)dup http://identifiers.org/clinvar/226265 ^@ NC_000018.9:g.(?_22883781)_(23015036_?)dup http://identifiers.org/clinvar/226266 ^@ NC_000018.9:g.(?_34546490)_(34698627_?)del http://identifiers.org/clinvar/226267 ^@ NC_000019.9:g.(?_53647182)_(53693873_?)dup http://identifiers.org/clinvar/226268 ^@ NC_000019.9:g.(?_55434213)_(55486661_?)del http://identifiers.org/clinvar/226269 ^@ NC_000020.10:g.(?_113651)_(184813_?)del http://identifiers.org/clinvar/226270 ^@ NC_000020.10:g.(?_15062923)_(15103156_?)del http://identifiers.org/clinvar/226271 ^@ NC_000020.10:g.(?_36905828)_(36972896_?)del http://identifiers.org/clinvar/226272 ^@ NC_000020.10:g.(?_3857650)_(3900324_?)del http://identifiers.org/clinvar/226273 ^@ NC_000020.10:g.(?_4931970)_(4972088_?)del http://identifiers.org/clinvar/226274 ^@ NC_000021.8:g.(?_19622822)_(19810737_?)dup http://identifiers.org/clinvar/226275 ^@ NC_000021.8:g.(?_37487858)_(37598197_?)dup http://identifiers.org/clinvar/226276 ^@ NC_000006.11:g.(?_20884837)_(21082258_?)del http://identifiers.org/clinvar/226277 ^@ NC_000007.13:g.(?_143839360)_(159138663_?)del http://identifiers.org/clinvar/226278 ^@ NC_000016.9:g.(?_14985615)_(17000304_?)dup http://identifiers.org/clinvar/226279 ^@ NC_000022.10:g.(?_43090481)_(43161021_?)dup http://identifiers.org/clinvar/226280 ^@ NC_000011.9:g.(?_87099219)_(91921385_?)del http://identifiers.org/clinvar/226281 ^@ NC_000021.8:g.(?_40100880)_(40154748_?)dup http://identifiers.org/clinvar/226282 ^@ NC_000023.10:g.(?_8075662)_(8148705_?)dup http://identifiers.org/clinvar/226283 ^@ NC_000023.10:g.(?_154873222)_(155010594_?)dup http://identifiers.org/clinvar/226284 ^@ NC_000023.10:g.(?_13354873)_(13493086_?)dup http://identifiers.org/clinvar/226285 ^@ NC_000023.10:g.(?_1427577)_(1592679_?)dup http://identifiers.org/clinvar/226286 ^@ NC_000023.10:g.(?_636950)_(820594_?)dup http://identifiers.org/clinvar/226287 ^@ NC_000023.10:g.(?_417624)_(636092_?)dup http://identifiers.org/clinvar/226288 ^@ NC_000023.10:g.(?_370599)_(612414_?)dup http://identifiers.org/clinvar/226289 ^@ NC_000023.10:g.(?_2059627)_(2314248_?)dup http://identifiers.org/clinvar/226290 ^@ NC_000023.10:g.(?_8219053)_(8484026_?)dup http://identifiers.org/clinvar/226291 ^@ NC_000023.10:g.(?_10299643)_(10638042_?)del http://identifiers.org/clinvar/226292 ^@ NC_000023.10:g.(?_105098359)_(105625090_?)dup http://identifiers.org/clinvar/226293 ^@ NC_000023.10:g.(?_129681013)_(130305495_?)dup http://identifiers.org/clinvar/226294 ^@ NC_000023.10:g.(?_44073185)_(44716100_?)dup http://identifiers.org/clinvar/226295 ^@ NC_000023.10:g.(?_426736)_(1215426_?)dup http://identifiers.org/clinvar/226296 ^@ NM_005693.3(NR1H3):c.1244G>A (p.Arg415Gln) http://identifiers.org/clinvar/226404 ^@ NM_000527.4(LDLR):c.191-?_1186+?dup http://identifiers.org/clinvar/226405 ^@ NM_000527.4(LDLR):c.314-?_694+?del http://identifiers.org/clinvar/226407 ^@ NM_000527.4(LDLR):c.314-?_1060+?del http://identifiers.org/clinvar/226400 ^@ NM_000527.4(LDLR):c.941-?_1186+?dup http://identifiers.org/clinvar/226401 ^@ NM_000527.4(LDLR):c.1187-?_1586+?del http://identifiers.org/clinvar/226397 ^@ NM_000527.4(LDLR):c.1587-?_1845+?del http://identifiers.org/clinvar/226396 ^@ NM_000527.4(LDLR):c.1587-?_2140+?del http://identifiers.org/clinvar/226403 ^@ NM_000527.4(LDLR):c.1846-?_2140+?dup http://identifiers.org/clinvar/226399 ^@ NM_000527.4(LDLR):c.2141-?_2311+?del http://identifiers.org/clinvar/226406 ^@ NM_000527.4(LDLR):c.2141-?_(2583_?)del http://identifiers.org/clinvar/226402 ^@ NM_000527.4(LDLR):c.2390-?_2547+?del http://identifiers.org/clinvar/226301 ^@ NM_000527.4(LDLR):c.-206C>T http://identifiers.org/clinvar/226300 ^@ NM_000527.4(LDLR):c.-140C>T http://identifiers.org/clinvar/226302 ^@ NM_000527.4(LDLR):c.-121T>C http://identifiers.org/clinvar/226299 ^@ NM_000527.4(LDLR):c.-120C>T http://identifiers.org/clinvar/226303 ^@ NM_000527.4(LDLR):c.6delG (p.Trp4Glyfs) http://identifiers.org/clinvar/226304 ^@ NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) http://identifiers.org/clinvar/226305 ^@ NM_000527.4(LDLR):c.82G>T (p.Glu28Ter) http://identifiers.org/clinvar/226306 ^@ NM_000527.4(LDLR):c.191-2A>G http://identifiers.org/clinvar/226307 ^@ NM_000527.4(LDLR):c.196_197delGT (p.Val66Hisfs) http://identifiers.org/clinvar/226308 ^@ NM_000527.4(LDLR):c.224G>A (p.Cys75Tyr) http://identifiers.org/clinvar/226309 ^@ NM_000527.4(LDLR):c.246C>A (p.Cys82Ter) http://identifiers.org/clinvar/226310 ^@ NM_000527.4(LDLR):c.251C>T (p.Pro84Leu) http://identifiers.org/clinvar/226311 ^@ NM_000527.4(LDLR):c.253C>T (p.Gln85Ter) http://identifiers.org/clinvar/226312 ^@ NM_000527.4(LDLR):c.266G>A (p.Cys89Tyr) http://identifiers.org/clinvar/226313 ^@ NM_000527.4(LDLR):c.269A>G (p.Asp90Gly) http://identifiers.org/clinvar/226314 ^@ NM_000527.4(LDLR):c.304C>T (p.Gln102Ter) http://identifiers.org/clinvar/226315 ^@ NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr) http://identifiers.org/clinvar/226316 ^@ NM_000527.4(LDLR):c.313_313+1delCG http://identifiers.org/clinvar/226317 ^@ NM_000527.4(LDLR):c.313+2dupT http://identifiers.org/clinvar/226318 ^@ NM_000527.4(LDLR):c.318delC (p.Lys107Argfs) http://identifiers.org/clinvar/226319 ^@ NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) http://identifiers.org/clinvar/226320 ^@ NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) http://identifiers.org/clinvar/226321 ^@ NM_000527.4(LDLR):c.373C>A (p.Gln125Lys) http://identifiers.org/clinvar/226322 ^@ NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) http://identifiers.org/clinvar/226323 ^@ NM_000527.4(LDLR):c.417C>G (p.Asp139Glu) http://identifiers.org/clinvar/226324 ^@ NM_000527.4(LDLR):c.427T>G (p.Cys143Gly) http://identifiers.org/clinvar/226325 ^@ NM_000527.4(LDLR):c.429C>A (p.Cys143Ter) http://identifiers.org/clinvar/226326 ^@ NM_000527.4(LDLR):c.533A>T (p.Asp178Val) http://identifiers.org/clinvar/226327 ^@ NM_000527.4(LDLR):c.564C>T (p.Tyr188=) http://identifiers.org/clinvar/226328 ^@ NM_000527.4(LDLR):c.648dupT (p.Asp217Terfs) http://identifiers.org/clinvar/226329 ^@ NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) http://identifiers.org/clinvar/226330 ^@ NM_000527.4(LDLR):c.660delC (p.Asp221Thrfs) http://identifiers.org/clinvar/226331 ^@ NM_000527.4(LDLR):c.661G>A (p.Asp221Asn) http://identifiers.org/clinvar/226332 ^@ NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) http://identifiers.org/clinvar/226333 ^@ NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) http://identifiers.org/clinvar/226334 ^@ NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) http://identifiers.org/clinvar/226335 ^@ NM_000527.4(LDLR):c.908_926dup19 (p.Ile310Glyfs) http://identifiers.org/clinvar/226336 ^@ NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) http://identifiers.org/clinvar/226337 ^@ NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) http://identifiers.org/clinvar/226339 ^@ NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) http://identifiers.org/clinvar/226338 ^@ NM_000527.4(LDLR):c.938_939delGCinsAT (p.Cys313Tyr) http://identifiers.org/clinvar/226340 ^@ NM_000527.4(LDLR):c.940+2T>C http://identifiers.org/clinvar/226344 ^@ NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) http://identifiers.org/clinvar/226341 ^@ NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter) http://identifiers.org/clinvar/226342 ^@ NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) http://identifiers.org/clinvar/226343 ^@ NM_000527.4(LDLR):c.1049G>C (p.Arg350Pro) http://identifiers.org/clinvar/226345 ^@ NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) http://identifiers.org/clinvar/226346 ^@ NM_000527.4(LDLR):c.1073G>A (p.Cys358Tyr) http://identifiers.org/clinvar/226347 ^@ NM_000527.4(LDLR):c.1118_1121dupGTGG (p.Tyr375Trpfs) http://identifiers.org/clinvar/226348 ^@ NM_000527.4(LDLR):c.1162delC (p.His388Thrfs) http://identifiers.org/clinvar/226349 ^@ NM_000527.4(LDLR):c.1187-10G>A http://identifiers.org/clinvar/226350 ^@ NM_000527.4(LDLR):c.1196C>A (p.Ala399Asp) http://identifiers.org/clinvar/226351 ^@ NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) http://identifiers.org/clinvar/226352 ^@ NM_000527.4(LDLR):c.1217G>C (p.Arg406Pro) http://identifiers.org/clinvar/226353 ^@ NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) http://identifiers.org/clinvar/226354 ^@ NM_000527.4(LDLR):c.1330T>C (p.Ser444Pro) http://identifiers.org/clinvar/226355 ^@ NM_000527.4(LDLR):c.1371_1374dupCAGA (p.Ala459Glnfs) http://identifiers.org/clinvar/226356 ^@ NM_000527.4(LDLR):c.1448G>A (p.Trp483Ter) http://identifiers.org/clinvar/226357 ^@ NM_000527.4(LDLR):c.1469G>A (p.Trp490Ter) http://identifiers.org/clinvar/226358 ^@ NM_000527.4(LDLR):c.1469G>T (p.Trp490Leu) http://identifiers.org/clinvar/226359 ^@ NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) http://identifiers.org/clinvar/226360 ^@ NM_000527.4(LDLR):c.1555C>A (p.Pro519Thr) http://identifiers.org/clinvar/226361 ^@ NM_000527.4(LDLR):c.1588T>G (p.Phe530Val) http://identifiers.org/clinvar/226362 ^@ NM_000527.4(LDLR):c.1592T>G (p.Met531Arg) http://identifiers.org/clinvar/226363 ^@ NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) http://identifiers.org/clinvar/226364 ^@ NM_000527.4(LDLR):c.1685G>A (p.Trp562Ter) http://identifiers.org/clinvar/226366 ^@ NM_000527.4(LDLR):c.1694G>C (p.Gly565Ala) http://identifiers.org/clinvar/226367 ^@ NM_000527.4(LDLR):c.1705+1G>A http://identifiers.org/clinvar/226368 ^@ NM_000527.4(LDLR):c.1706-10G>A http://identifiers.org/clinvar/226369 ^@ NM_000527.4(LDLR):c.1715_1719delGTGGCinsA (p.Ser572Asnfs) http://identifiers.org/clinvar/226370 ^@ NM_000527.4(LDLR):c.1731G>A (p.Trp577Ter) http://identifiers.org/clinvar/226371 ^@ NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) http://identifiers.org/clinvar/226372 ^@ NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) http://identifiers.org/clinvar/226373 ^@ NM_000527.4(LDLR):c.1776_1778delGGG (p.Gly593del) http://identifiers.org/clinvar/226374 ^@ NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) http://identifiers.org/clinvar/226375 ^@ NM_000527.4(LDLR):c.1845+11C>G http://identifiers.org/clinvar/226298 ^@ NM_000527.4(LDLR):c.1846-2179_2140+2154del http://identifiers.org/clinvar/226376 ^@ NM_000527.4(LDLR):c.1860G>T (p.Trp620Cys) http://identifiers.org/clinvar/226377 ^@ NM_000527.4(LDLR):c.1880C>A (p.Ala627Asp) http://identifiers.org/clinvar/226378 ^@ NM_000527.4(LDLR):c.1885T>G (p.Phe629Val) http://identifiers.org/clinvar/226379 ^@ NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) http://identifiers.org/clinvar/226380 ^@ NM_000527.4(LDLR):c.1898G>A (p.Arg633His) http://identifiers.org/clinvar/226381 ^@ NM_000527.4(LDLR):c.1954_1955delAT (p.Met652Glyfs) http://identifiers.org/clinvar/226382 ^@ NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) http://identifiers.org/clinvar/226383 ^@ NM_000527.4(LDLR):c.2027delG (p.Gly676Alafs) http://identifiers.org/clinvar/226384 ^@ NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) http://identifiers.org/clinvar/226385 ^@ NM_000527.4(LDLR):c.2030G>T (p.Cys677Phe) http://identifiers.org/clinvar/226386 ^@ NM_000527.4(LDLR):c.2140G>C (p.Glu714Gln) http://identifiers.org/clinvar/226387 ^@ NM_000527.4(LDLR):c.2149G>A (p.Ala717Thr) http://identifiers.org/clinvar/226388 ^@ NM_000527.4(LDLR):c.2271delT (p.Leu759Serfs) http://identifiers.org/clinvar/226389 ^@ NM_000527.4(LDLR):c.2289G>T (p.Glu763Asp) http://identifiers.org/clinvar/226390 ^@ NM_000527.4(LDLR):c.2292delA (p.Ile764Metfs) http://identifiers.org/clinvar/226391 ^@ NM_000527.4(LDLR):c.2312-3C>A http://identifiers.org/clinvar/226392 ^@ NM_000527.4(LDLR):c.2344A>T (p.Lys782Ter) http://identifiers.org/clinvar/226393 ^@ NM_000527.4(LDLR):c.2389G>A (p.Val797Met) http://identifiers.org/clinvar/226395 ^@ NM_000527.4(LDLR):c.2483A>C (p.Tyr828Ser) http://identifiers.org/clinvar/226398 ^@ NM_000527.4(LDLR):c.818-?_1186+?del http://identifiers.org/clinvar/226411 ^@ NM_005379.3(MYO1A):c.2021G>A (p.Gly674Asp) http://identifiers.org/clinvar/226410 ^@ NM_005379.3(MYO1A):c.1011+2T>G http://identifiers.org/clinvar/226409 ^@ NM_005379.3(MYO1A):c.640+1G>C http://identifiers.org/clinvar/226408 ^@ NM_005379.3(MYO1A):c.235G>T (p.Ala79Ser) http://identifiers.org/clinvar/226412 ^@ NM_000203.4(IDUA):c.523T>C (p.Trp175Arg) http://identifiers.org/clinvar/226413 ^@ NM_000203.4(IDUA):c.612_615dupCTGC (p.Ser206Leufs) http://identifiers.org/clinvar/226418 ^@ NM_000112.3(SLC26A2):c.374A>T (p.Gln125Leu) http://identifiers.org/clinvar/226414 ^@ NM_000048.3(ASL):c.1079T>C (p.Met360Thr) http://identifiers.org/clinvar/226419 ^@ NM_024312.4(GNPTAB):c.3250-2A>G http://identifiers.org/clinvar/226415 ^@ NM_000231.2(SGCG):c.690T>A (p.Ser230Arg) http://identifiers.org/clinvar/226416 ^@ NM_000159.3(GCDH):c.826G>T (p.Val276Leu) http://identifiers.org/clinvar/226417 ^@ NM_003159.2(CDKL5):c.173T>A (p.Leu58Ter) http://identifiers.org/clinvar/226420 ^@ NM_001143763.1(SYCE1):c.197-2A>G http://identifiers.org/clinvar/226424 ^@ NM_016614.2(TDP2):c.425+1G>A http://identifiers.org/clinvar/226425 ^@ NM_016614.2(TDP2):c.413_414delCCinsAA (p.Ser138Ter) http://identifiers.org/clinvar/226426 ^@ NM_006459.3(ERLIN1):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/226427 ^@ NM_006459.3(ERLIN1):c.149G>T (p.Gly50Val) http://identifiers.org/clinvar/226428 ^@ NM_144992.4(VWA3B):c.1865A>C (p.Lys622Thr) http://identifiers.org/clinvar/226439 ^@ NM_033056.3(PCDH15):c.158-1G>A http://identifiers.org/clinvar/226437 ^@ NM_022124.5(CDH23):c.3178C>T (p.Arg1060Trp) http://identifiers.org/clinvar/226438 ^@ NM_022124.5(CDH23):c.9127C>T (p.Arg3043Trp) http://identifiers.org/clinvar/226431 ^@ NM_000260.3(MYO7A):c.223delG (p.Asp75ThrfsTer31) http://identifiers.org/clinvar/226432 ^@ NM_000260.3(MYO7A):c.1952T>C (p.Leu651Pro) http://identifiers.org/clinvar/226433 ^@ NM_000260.3(MYO7A):c.2311G>T (p.Ala771Ser) http://identifiers.org/clinvar/226434 ^@ NM_000260.3(MYO7A):c.6557T>C (p.Leu2186Pro) http://identifiers.org/clinvar/226440 ^@ NM_173477.4(USH1G):c.46C>G (p.Leu16Val) http://identifiers.org/clinvar/226435 ^@ NP_000251.3(MYO7A):p.Tyr1302fsTer97 http://identifiers.org/clinvar/226436 ^@ NP_005700.2(USH1C):p.Arg357Trp http://identifiers.org/clinvar/226441 ^@ NM_206933.2(USH2A):c.9921T>G (p.Cys3307Trp) http://identifiers.org/clinvar/226443 ^@ NM_032119.3(ADGRV1):c.14119G>T (p.Asp4707Tyr) http://identifiers.org/clinvar/226449 ^@ NM_000237.2(LPL):c.928T>C (p.Cys310Arg) http://identifiers.org/clinvar/226450 ^@ NM_000237.2(LPL):c.1187A>T (p.Glu396Val) http://identifiers.org/clinvar/228410 ^@ NC_000001.11:g.(?_215888426)_(215900905_?)del http://identifiers.org/clinvar/228290 ^@ NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?)) http://identifiers.org/clinvar/228731 ^@ NM_013296.4(GPSM2):c.57-10A>G http://identifiers.org/clinvar/227414 ^@ NM_013296.4(GPSM2):c.123C>T (p.Arg41=) http://identifiers.org/clinvar/228729 ^@ NM_013296.4(GPSM2):c.831C>G (p.Asp277Glu) http://identifiers.org/clinvar/228354 ^@ NM_013296.4(GPSM2):c.1063-1G>T http://identifiers.org/clinvar/226649 ^@ NM_013296.4(GPSM2):c.1572_1574delTTC (p.Ser525del) http://identifiers.org/clinvar/228730 ^@ NM_013296.4(GPSM2):c.1670G>A (p.Arg557His) http://identifiers.org/clinvar/228247 ^@ NM_001232.3(CASQ2):c.940-1G>T http://identifiers.org/clinvar/228469 ^@ NM_001232.3(CASQ2):c.783+3A>T http://identifiers.org/clinvar/227209 ^@ NM_001232.3(CASQ2):c.1134T>A (p.Asp378Glu) http://identifiers.org/clinvar/227210 ^@ NM_001232.3(CASQ2):c.730C>T (p.His244Tyr) http://identifiers.org/clinvar/228470 ^@ NM_001232.3(CASQ2):c.874G>T (p.Ala292Ser) http://identifiers.org/clinvar/228468 ^@ NM_001232.3(CASQ2):c.738-3C>A http://identifiers.org/clinvar/228467 ^@ NM_001232.3(CASQ2):c.173A>T (p.Glu58Val) http://identifiers.org/clinvar/229202 ^@ NM_006912.5(RIT1):c.604A>T (p.Ser202Cys) http://identifiers.org/clinvar/227047 ^@ NM_001256821.1(RIT1):c.31G>C (p.Glu11Gln) http://identifiers.org/clinvar/226855 ^@ NM_006172.3(NPPA):c.454T>C (p.Ter152Arg) http://identifiers.org/clinvar/228289 ^@ NM_006912.5(RIT1):c.229G>C (p.Ala77Pro) http://identifiers.org/clinvar/228803 ^@ NM_005572.3(LMNA):c.230T>C (p.Ile77Thr) http://identifiers.org/clinvar/228804 ^@ NM_005572.3(LMNA):c.232A>G (p.Lys78Glu) http://identifiers.org/clinvar/227506 ^@ NM_005572.3(LMNA):c.346C>T (p.Leu116=) http://identifiers.org/clinvar/228271 ^@ NM_005572.3(LMNA):c.356+1G>C http://identifiers.org/clinvar/228805 ^@ NM_005572.3(LMNA):c.449C>T (p.Thr150Ile) http://identifiers.org/clinvar/228272 ^@ NM_005572.3(LMNA):c.476delA (p.Glu159Glyfs) http://identifiers.org/clinvar/228270 ^@ NM_005572.3(LMNA):c.1110C>G (p.Asp370Glu) http://identifiers.org/clinvar/228802 ^@ NM_005572.3(LMNA):c.1306A>G (p.Thr436Ala) http://identifiers.org/clinvar/227503 ^@ NM_170707.3(LMNA):c.1488+8G>A http://identifiers.org/clinvar/227505 ^@ NM_170707.3(LMNA):c.1770C>T (p.Thr590=) http://identifiers.org/clinvar/227502 ^@ NM_005572.3(LMNA):c.1381-6C>T http://identifiers.org/clinvar/229338 ^@ NM_000364.3(TNNT2):c.635G>C (p.Arg212Pro) http://identifiers.org/clinvar/227504 ^@ NM_170707.3(LMNA):c.1731T>C (p.Ala577=) http://identifiers.org/clinvar/229339 ^@ NM_000364.3(TNNT2):c.845C>A (p.Ser282Tyr) http://identifiers.org/clinvar/229337 ^@ NM_000364.3(TNNT2):c.573G>T (p.Met191Ile) http://identifiers.org/clinvar/228409 ^@ NM_001001430.2(TNNT2):c.517C>T (p.Arg173Trp) http://identifiers.org/clinvar/228021 ^@ NM_000364.3(TNNT2):c.295-14C>T http://identifiers.org/clinvar/229336 ^@ NM_000364.3(TNNT2):c.354_355delTCinsGT (p.His119Tyr) http://identifiers.org/clinvar/228019 ^@ NM_000364.3(TNNT2):c.144C>T (p.Thr48=) http://identifiers.org/clinvar/228020 ^@ NM_000364.3(TNNT2):c.199+14G>A http://identifiers.org/clinvar/229623 ^@ NM_206933.2(USH2A):c.15322C>T (p.Arg5108Trp) http://identifiers.org/clinvar/228206 ^@ NM_206933.2(USH2A):c.15105A>C (p.Thr5035=) http://identifiers.org/clinvar/229622 ^@ NM_206933.2(USH2A):c.14902G>A (p.Asp4968Asn) http://identifiers.org/clinvar/228205 ^@ NM_206933.2(USH2A):c.14511C>T (p.Ile4837=) http://identifiers.org/clinvar/227143 ^@ NM_206933.2(USH2A):c.13857A>G (p.Ser4619=) http://identifiers.org/clinvar/229621 ^@ NM_206933.2(USH2A):c.14191G>A (p.Gly4731Arg) http://identifiers.org/clinvar/228204 ^@ NM_206933.2(USH2A):c.13775A>G (p.Gln4592Arg) http://identifiers.org/clinvar/229620 ^@ NM_206933.2(USH2A):c.13732A>G (p.Lys4578Glu) http://identifiers.org/clinvar/227142 ^@ NM_206933.2(USH2A):c.13134G>T (p.Pro4378=) http://identifiers.org/clinvar/228311 ^@ NM_206933.2(USH2A):c.12700A>C (p.Thr4234Pro) http://identifiers.org/clinvar/228412 ^@ NM_206933.2(USH2A):c.13711G>T (p.Glu4571Ter) http://identifiers.org/clinvar/229619 ^@ NM_206933.2(USH2A):c.12823T>A (p.Ser4275Thr) http://identifiers.org/clinvar/229617 ^@ NM_206933.2(USH2A):c.12241C>T (p.Arg4081Trp) http://identifiers.org/clinvar/229618 ^@ NM_206933.2(USH2A):c.12560G>T (p.Arg4187Leu) http://identifiers.org/clinvar/229616 ^@ NM_206933.2(USH2A):c.12145G>A (p.Ala4049Thr) http://identifiers.org/clinvar/228203 ^@ NM_206933.2(USH2A):c.11602A>T (p.Met3868Leu) http://identifiers.org/clinvar/229614 ^@ NM_206933.2(USH2A):c.10564A>G (p.Arg3522Gly) http://identifiers.org/clinvar/229615 ^@ NM_206933.2(USH2A):c.11366T>C (p.Ile3789Thr) http://identifiers.org/clinvar/228202 ^@ NM_206933.2(USH2A):c.10518G>A (p.Thr3506=) http://identifiers.org/clinvar/228201 ^@ NM_206933.2(USH2A):c.10398C>G (p.Leu3466=) http://identifiers.org/clinvar/228200 ^@ NM_206933.2(USH2A):c.10344A>G (p.Glu3448=) http://identifiers.org/clinvar/229613 ^@ NM_206933.2(USH2A):c.10175T>A (p.Met3392Lys) http://identifiers.org/clinvar/228418 ^@ NM_206933.2(USH2A):c.9570+1G>A http://identifiers.org/clinvar/229630 ^@ NM_206933.2(USH2A):c.9956C>T (p.Pro3319Leu) http://identifiers.org/clinvar/228227 ^@ NM_206933.2(USH2A):c.9402G>A (p.Arg3134=) http://identifiers.org/clinvar/227149 ^@ NM_206933.2(USH2A):c.9259-14A>C http://identifiers.org/clinvar/229629 ^@ NM_206933.2(USH2A):c.9089T>C (p.Ile3030Thr) http://identifiers.org/clinvar/229628 ^@ NM_206933.2(USH2A):c.8845+6_8845+9delTAAG http://identifiers.org/clinvar/227148 ^@ NM_206933.2(USH2A):c.9110G>A (p.Arg3037His) http://identifiers.org/clinvar/228226 ^@ NM_206933.2(USH2A):c.8845+9G>C http://identifiers.org/clinvar/228417 ^@ NM_206933.2(USH2A):c.8740C>T (p.Arg2914Ter) http://identifiers.org/clinvar/228416 ^@ NM_206933.2(USH2A):c.8681+1G>A http://identifiers.org/clinvar/228224 ^@ NM_206933.2(USH2A):c.8499T>C (p.Ser2833=) http://identifiers.org/clinvar/228223 ^@ NM_206933.2(USH2A):c.7494T>A (p.Ser2498Arg) http://identifiers.org/clinvar/229627 ^@ NM_206933.2(USH2A):c.7436C>T (p.Thr2479Ile) http://identifiers.org/clinvar/227146 ^@ NM_206933.2(USH2A):c.7121-14delT http://identifiers.org/clinvar/229625 ^@ NM_206933.2(USH2A):c.6805+6T>A http://identifiers.org/clinvar/228222 ^@ NM_206933.2(USH2A):c.7038C>T (p.His2346=) http://identifiers.org/clinvar/228415 ^@ NM_206933.2(USH2A):c.6639delA (p.Lys2213Asnfs) http://identifiers.org/clinvar/228221 ^@ NM_206933.2(USH2A):c.6765C>T (p.Asp2255=) http://identifiers.org/clinvar/228219 ^@ NM_206933.2(USH2A):c.6513G>C (p.Gly2171=) http://identifiers.org/clinvar/228220 ^@ NM_206933.2(USH2A):c.6565A>G (p.Ile2189Val) http://identifiers.org/clinvar/228218 ^@ NM_206933.2(USH2A):c.6364G>T (p.Ala2122Ser) http://identifiers.org/clinvar/228217 ^@ NM_206933.2(USH2A):c.6325+13G>A http://identifiers.org/clinvar/227145 ^@ NM_206933.2(USH2A):c.6236A>C (p.Lys2079Thr) http://identifiers.org/clinvar/227144 ^@ NM_206933.2(USH2A):c.6186A>C (p.Pro2062=) http://identifiers.org/clinvar/228216 ^@ NM_206933.2(USH2A):c.5373G>C (p.Leu1791=) http://identifiers.org/clinvar/228414 ^@ NM_206933.2(USH2A):c.5776+1G>A http://identifiers.org/clinvar/228215 ^@ NM_206933.2(USH2A):c.5130C>T (p.Pro1710=) http://identifiers.org/clinvar/228214 ^@ NM_206933.2(USH2A):c.4313G>A (p.Arg1438Lys) http://identifiers.org/clinvar/228212 ^@ NM_206933.2(USH2A):c.3158-7A>G http://identifiers.org/clinvar/228213 ^@ NM_206933.2(USH2A):c.3942A>G (p.Glu1314=) http://identifiers.org/clinvar/229624 ^@ NM_206933.2(USH2A):c.2479A>C (p.Asn827His) http://identifiers.org/clinvar/228211 ^@ NM_206933.2(USH2A):c.2775T>C (p.Asn925=) http://identifiers.org/clinvar/228210 ^@ NM_206933.2(USH2A):c.2167+11C>T http://identifiers.org/clinvar/228209 ^@ NM_206933.2(USH2A):c.2007T>A (p.Ser669=) http://identifiers.org/clinvar/228207 ^@ NM_206933.2(USH2A):c.1550+10T>C http://identifiers.org/clinvar/228225 ^@ NM_206933.2(USH2A):c.870T>A (p.Ser290=) http://identifiers.org/clinvar/228208 ^@ NM_206933.2(USH2A):c.1623G>A (p.Glu541=) http://identifiers.org/clinvar/228411 ^@ NM_206933.2(USH2A):c.1000C>T (p.Arg334Trp) http://identifiers.org/clinvar/227147 ^@ NM_206933.2(USH2A):c.785-16_785-15delAT http://identifiers.org/clinvar/229626 ^@ NM_206933.2(USH2A):c.706C>A (p.Pro236Thr) http://identifiers.org/clinvar/228413 ^@ NM_206933.2(USH2A):c.486-1G>C http://identifiers.org/clinvar/228320 ^@ NM_001135599.3(TGFB2):c.594+38_594+43dupGTTGTT http://identifiers.org/clinvar/226455 ^@ NM_001100.3(ACTA1):c.809-14delGinsCC http://identifiers.org/clinvar/227947 ^@ NM_003036.3(SKI):c.312A>T (p.Val104=) http://identifiers.org/clinvar/228243 ^@ NM_001100.3(ACTA1):c.808G>C (p.Gly270Arg) http://identifiers.org/clinvar/227946 ^@ NM_003036.3(SKI):c.1311C>G (p.Ala437=) http://identifiers.org/clinvar/229252 ^@ NM_003036.3(SKI):c.1456G>A (p.Val486Ile) http://identifiers.org/clinvar/228437 ^@ NM_001103.3(ACTN2):c.536+6C>G http://identifiers.org/clinvar/228436 ^@ NM_001103.3(ACTN2):c.826A>G (p.Asn276Asp) http://identifiers.org/clinvar/228434 ^@ NM_001103.3(ACTN2):c.1381A>G (p.Ile461Val) http://identifiers.org/clinvar/227175 ^@ NM_001103.3(ACTN2):c.795G>A (p.Ala265=) http://identifiers.org/clinvar/228438 ^@ NM_001103.3(ACTN2):c.895C>T (p.Arg299Cys) http://identifiers.org/clinvar/227174 ^@ NM_001103.3(ACTN2):c.2148G>A (p.Thr716=) http://identifiers.org/clinvar/228435 ^@ NM_001103.3(ACTN2):c.2602G>A (p.Ala868Thr) http://identifiers.org/clinvar/229217 ^@ NM_001035.2(RYR2):c.281A>T (p.Asp94Val) http://identifiers.org/clinvar/227914 ^@ NM_001035.2(RYR2):c.186C>T (p.Leu62=) http://identifiers.org/clinvar/227916 ^@ NM_001035.2(RYR2):c.294+15G>A http://identifiers.org/clinvar/229228 ^@ NM_001035.2(RYR2):c.994C>T (p.Arg332Trp) http://identifiers.org/clinvar/227906 ^@ NM_001035.2(RYR2):c.1056T>C (p.Ser352=) http://identifiers.org/clinvar/227912 ^@ NM_001035.2(RYR2):c.1477-8C>T http://identifiers.org/clinvar/227915 ^@ NM_001035.2(RYR2):c.2396+12T>A http://identifiers.org/clinvar/227913 ^@ NM_001035.2(RYR2):c.1518C>T (p.His506=) http://identifiers.org/clinvar/229216 ^@ NM_001035.2(RYR2):c.2786G>A (p.Arg929His) http://identifiers.org/clinvar/229215 ^@ NM_001035.2(RYR2):c.2716C>G (p.Pro906Ala) http://identifiers.org/clinvar/227917 ^@ NM_001035.2(RYR2):c.3423+10C>A http://identifiers.org/clinvar/229218 ^@ NM_001035.2(RYR2):c.2881G>T (p.Val961Leu) http://identifiers.org/clinvar/227918 ^@ NM_001035.2(RYR2):c.3978C>G (p.Gly1326=) http://identifiers.org/clinvar/229220 ^@ NM_001035.2(RYR2):c.5416G>A (p.Ala1806Thr) http://identifiers.org/clinvar/229219 ^@ NM_001035.2(RYR2):c.5485C>G (p.Leu1829Val) http://identifiers.org/clinvar/227919 ^@ NM_001035.2(RYR2):c.5616T>C (p.Asp1872=) http://identifiers.org/clinvar/229222 ^@ NM_001035.2(RYR2):c.5774T>C (p.Ile1925Thr) http://identifiers.org/clinvar/229221 ^@ NM_001035.2(RYR2):c.5755C>T (p.Arg1919Trp) http://identifiers.org/clinvar/227920 ^@ NM_001035.2(RYR2):c.7287G>A (p.Leu2429=) http://identifiers.org/clinvar/227921 ^@ NM_001035.2(RYR2):c.7359A>G (p.Glu2453=) http://identifiers.org/clinvar/229223 ^@ NM_001035.2(RYR2):c.7808C>T (p.Ala2603Val) http://identifiers.org/clinvar/227922 ^@ NM_001035.2(RYR2):c.7494G>A (p.Ala2498=) http://identifiers.org/clinvar/229224 ^@ NM_001035.2(RYR2):c.8209-7_8209-4delTTTT http://identifiers.org/clinvar/227923 ^@ NM_001035.2(RYR2):c.8714+13A>G http://identifiers.org/clinvar/229225 ^@ NM_001035.2(RYR2):c.9129-10T>A http://identifiers.org/clinvar/227924 ^@ NM_001035.2(RYR2):c.8913T>C (p.Ile2971=) http://identifiers.org/clinvar/229226 ^@ NM_001035.2(RYR2):c.9442G>A (p.Val3148Met) http://identifiers.org/clinvar/229227 ^@ NM_001035.2(RYR2):c.9736A>G (p.Met3246Val) http://identifiers.org/clinvar/229229 ^@ NM_001035.2(RYR2):c.9962C>T (p.Pro3321Leu) http://identifiers.org/clinvar/227905 ^@ NM_001035.2(RYR2):c.10047G>A (p.Ser3349=) http://identifiers.org/clinvar/229207 ^@ NM_001035.2(RYR2):c.10427T>C (p.Ile3476Thr) http://identifiers.org/clinvar/229206 ^@ NM_001035.2(RYR2):c.10127T>A (p.Phe3376Tyr) http://identifiers.org/clinvar/229209 ^@ NM_001035.2(RYR2):c.11040-3C>T http://identifiers.org/clinvar/229208 ^@ NM_001035.2(RYR2):c.10557G>T (p.Leu3519Phe) http://identifiers.org/clinvar/227907 ^@ NM_001035.2(RYR2):c.12609G>T (p.Ala4203=) http://identifiers.org/clinvar/227908 ^@ NM_001035.2(RYR2):c.12663C>T (p.Ser4221=) http://identifiers.org/clinvar/227909 ^@ NM_001035.2(RYR2):c.13326C>T (p.Ala4442=) http://identifiers.org/clinvar/227910 ^@ NM_001035.2(RYR2):c.13071C>T (p.Ala4357=) http://identifiers.org/clinvar/229211 ^@ NM_001035.2(RYR2):c.13329-3T>C http://identifiers.org/clinvar/229210 ^@ NM_001035.2(RYR2):c.13329-11T>G http://identifiers.org/clinvar/227911 ^@ NM_001035.2(RYR2):c.13593G>A (p.Lys4531=) http://identifiers.org/clinvar/229212 ^@ NM_001035.2(RYR2):c.13504A>C (p.Met4502Leu) http://identifiers.org/clinvar/229214 ^@ NM_001035.2(RYR2):c.14591-9delT http://identifiers.org/clinvar/229213 ^@ NM_001035.2(RYR2):c.14464C>G (p.Arg4822Gly) http://identifiers.org/clinvar/227038 ^@ NM_022114.3(PRDM16):c.38-15C>T http://identifiers.org/clinvar/228319 ^@ NM_022114.3(PRDM16):c.-14C>A http://identifiers.org/clinvar/229168 ^@ NM_022114.3(PRDM16):c.38-14G>A http://identifiers.org/clinvar/227857 ^@ NM_022114.3(PRDM16):c.100G>A (p.Ala34Thr) http://identifiers.org/clinvar/227864 ^@ NM_022114.3(PRDM16):c.201G>A (p.Pro67=) http://identifiers.org/clinvar/227039 ^@ NM_022114.3(PRDM16):c.387+6C>T http://identifiers.org/clinvar/227040 ^@ NM_022114.3(PRDM16):c.429C>T (p.Cys143=) http://identifiers.org/clinvar/227041 ^@ NM_022114.3(PRDM16):c.444C>T (p.Ser148=) http://identifiers.org/clinvar/227042 ^@ NM_022114.3(PRDM16):c.627C>T (p.His209=) http://identifiers.org/clinvar/227872 ^@ NM_022114.3(PRDM16):c.657A>C (p.Thr219=) http://identifiers.org/clinvar/227874 ^@ NM_022114.3(PRDM16):c.714C>A (p.Leu238=) http://identifiers.org/clinvar/227043 ^@ NM_022114.3(PRDM16):c.783C>T (p.Tyr261=) http://identifiers.org/clinvar/227875 ^@ NM_022114.3(PRDM16):c.822C>T (p.Gly274=) http://identifiers.org/clinvar/227044 ^@ NM_022114.3(PRDM16):c.884+9_884+39del31 http://identifiers.org/clinvar/229169 ^@ NM_022114.3(PRDM16):c.867G>A (p.Met289Ile) http://identifiers.org/clinvar/229155 ^@ NM_022114.3(PRDM16):c.1081G>A (p.Val361Met) http://identifiers.org/clinvar/229156 ^@ NM_022114.3(PRDM16):c.1093G>T (p.Ala365Ser) http://identifiers.org/clinvar/227858 ^@ NM_022114.3(PRDM16):c.1116G>A (p.Gly372=) http://identifiers.org/clinvar/227022 ^@ NM_022114.3(PRDM16):c.1113C>T (p.Cys371=) http://identifiers.org/clinvar/227859 ^@ NM_022114.3(PRDM16):c.1134C>G (p.Ser378=) http://identifiers.org/clinvar/229157 ^@ NM_022114.3(PRDM16):c.1187-10G>C http://identifiers.org/clinvar/227023 ^@ NM_022114.3(PRDM16):c.1212G>A (p.Thr404=) http://identifiers.org/clinvar/227860 ^@ NM_022114.3(PRDM16):c.1363G>A (p.Gly455Ser) http://identifiers.org/clinvar/227025 ^@ NM_022114.3(PRDM16):c.1518G>A (p.Thr506=) http://identifiers.org/clinvar/227024 ^@ NM_022114.3(PRDM16):c.1426C>T (p.Pro476Ser) http://identifiers.org/clinvar/229158 ^@ NM_022114.3(PRDM16):c.1574G>A (p.Arg525Gln) http://identifiers.org/clinvar/227861 ^@ NM_022114.3(PRDM16):c.1578G>A (p.Pro526=) http://identifiers.org/clinvar/227026 ^@ NM_022114.3(PRDM16):c.1597T>C (p.Ser533Pro) http://identifiers.org/clinvar/227862 ^@ NM_022114.3(PRDM16):c.1684G>A (p.Val562Ile) http://identifiers.org/clinvar/227027 ^@ NM_022114.3(PRDM16):c.1898C>T (p.Pro633Leu) http://identifiers.org/clinvar/229159 ^@ NM_022114.3(PRDM16):c.1877A>T (p.Asp626Val) http://identifiers.org/clinvar/227863 ^@ NM_022114.3(PRDM16):c.1977G>A (p.Pro659=) http://identifiers.org/clinvar/229160 ^@ NM_022114.3(PRDM16):c.2060G>C (p.Gly687Ala) http://identifiers.org/clinvar/229161 ^@ NM_022114.3(PRDM16):c.2089G>T (p.Ala697Ser) http://identifiers.org/clinvar/227028 ^@ NM_022114.3(PRDM16):c.2091A>T (p.Ala697=) http://identifiers.org/clinvar/229162 ^@ NM_022114.3(PRDM16):c.2290G>A (p.Val764Met) http://identifiers.org/clinvar/229163 ^@ NM_022114.3(PRDM16):c.2434C>T (p.Arg812Cys) http://identifiers.org/clinvar/227865 ^@ NM_022114.3(PRDM16):c.2468G>C (p.Arg823Pro) http://identifiers.org/clinvar/227029 ^@ NM_022114.3(PRDM16):c.2502C>T (p.Gly834=) http://identifiers.org/clinvar/227030 ^@ NM_022114.3(PRDM16):c.2506G>A (p.Gly836Ser) http://identifiers.org/clinvar/229164 ^@ NM_022114.3(PRDM16):c.2576C>T (p.Ser859Leu) http://identifiers.org/clinvar/227866 ^@ NM_022114.3(PRDM16):c.2634C>T (p.Pro878=) http://identifiers.org/clinvar/227031 ^@ NM_022114.3(PRDM16):c.2673G>A (p.Pro891=) http://identifiers.org/clinvar/229165 ^@ NM_022114.3(PRDM16):c.2786C>A (p.Pro929His) http://identifiers.org/clinvar/227032 ^@ NM_022114.3(PRDM16):c.2793C>T (p.Asn931=) http://identifiers.org/clinvar/229166 ^@ NM_022114.3(PRDM16):c.2809_2810dupCC (p.Thr938Glnfs) http://identifiers.org/clinvar/227867 ^@ NM_022114.3(PRDM16):c.2856G>A (p.Thr952=) http://identifiers.org/clinvar/229167 ^@ NM_022114.3(PRDM16):c.2940-15G>A http://identifiers.org/clinvar/227033 ^@ NM_022114.3(PRDM16):c.3109+10G>A http://identifiers.org/clinvar/227868 ^@ NM_022114.3(PRDM16):c.3109+12G>C http://identifiers.org/clinvar/227869 ^@ NM_022114.3(PRDM16):c.3110-4G>A http://identifiers.org/clinvar/227034 ^@ NM_022114.3(PRDM16):c.3130C>T (p.Leu1044Phe) http://identifiers.org/clinvar/227870 ^@ NM_022114.3(PRDM16):c.3135G>A (p.Thr1045=) http://identifiers.org/clinvar/227035 ^@ NM_022114.3(PRDM16):c.3284+15G>T http://identifiers.org/clinvar/227871 ^@ NM_022114.3(PRDM16):c.3366C>T (p.Asp1122=) http://identifiers.org/clinvar/227036 ^@ NM_022114.3(PRDM16):c.3369C>T (p.Asp1123=) http://identifiers.org/clinvar/227037 ^@ NM_022114.3(PRDM16):c.3687T>C (p.Ala1229=) http://identifiers.org/clinvar/226643 ^@ NM_024009.2(GJB3):c.109G>A (p.Val37Met) http://identifiers.org/clinvar/227468 ^@ NM_004700.3(KCNQ4):c.315-9T>C http://identifiers.org/clinvar/227469 ^@ NM_004700.3(KCNQ4):c.720C>G (p.Thr240=) http://identifiers.org/clinvar/228776 ^@ NM_004700.3(KCNQ4):c.857A>G (p.Tyr286Cys) http://identifiers.org/clinvar/227470 ^@ NM_004700.3(KCNQ4):c.909C>T (p.Phe303=) http://identifiers.org/clinvar/228774 ^@ NM_004700.3(KCNQ4):c.946-3T>A http://identifiers.org/clinvar/227464 ^@ NM_004700.3(KCNQ4):c.1042-11dupC http://identifiers.org/clinvar/228769 ^@ NM_004700.3(KCNQ4):c.1193A>G (p.Glu398Gly) http://identifiers.org/clinvar/228767 ^@ NM_004700.3(KCNQ4):c.1201C>T (p.Arg401Trp) http://identifiers.org/clinvar/227465 ^@ NM_004700.3(KCNQ4):c.1292+12G>A http://identifiers.org/clinvar/227466 ^@ NM_004700.3(KCNQ4):c.1413T>C (p.Gly471=) http://identifiers.org/clinvar/228770 ^@ NM_004700.3(KCNQ4):c.1531G>A (p.Val511Ile) http://identifiers.org/clinvar/228771 ^@ NM_004700.3(KCNQ4):c.1611C>G (p.Ile537Met) http://identifiers.org/clinvar/227467 ^@ NM_004700.3(KCNQ4):c.1770G>A (p.Gly590=) http://identifiers.org/clinvar/228772 ^@ NM_004700.3(KCNQ4):c.1801G>T (p.Asp601Tyr) http://identifiers.org/clinvar/228773 ^@ NM_004700.3(KCNQ4):c.1957G>A (p.Gly653Ser) http://identifiers.org/clinvar/226687 ^@ NM_004700.3(KCNQ4):c.1986C>G (p.Pro662=) http://identifiers.org/clinvar/228775 ^@ NM_004700.3(KCNQ4):c.2006A>G (p.His669Arg) http://identifiers.org/clinvar/228768 ^@ NM_004700.3(KCNQ4):c.*7T>C http://identifiers.org/clinvar/227188 ^@ NM_057176.2(BSND):c.102C>T (p.Tyr34=) http://identifiers.org/clinvar/227189 ^@ NM_057176.2(BSND):c.183C>T (p.Thr61=) http://identifiers.org/clinvar/227191 ^@ NM_057176.2(BSND):c.309G>C (p.Glu103Asp) http://identifiers.org/clinvar/227190 ^@ NM_057176.2(BSND):c.315C>T (p.Ala105=) http://identifiers.org/clinvar/227192 ^@ NM_057176.2(BSND):c.375T>C (p.Ser125=) http://identifiers.org/clinvar/228461 ^@ NM_057176.2(BSND):c.409G>C (p.Gly137Arg) http://identifiers.org/clinvar/227193 ^@ NM_057176.2(BSND):c.425G>A (p.Gly142Glu) http://identifiers.org/clinvar/226465 ^@ NM_057176.2(BSND):c.459C>T (p.Asp153=) http://identifiers.org/clinvar/228463 ^@ NM_057176.2(BSND):c.482C>T (p.Ala161Val) http://identifiers.org/clinvar/226466 ^@ NM_057176.2(BSND):c.597T>C (p.Asp199=) http://identifiers.org/clinvar/227194 ^@ NM_057176.2(BSND):c.951C>A (p.Asp317Glu) http://identifiers.org/clinvar/228670 ^@ NM_031475.2(ESPN):c.337C>T (p.Arg113Cys) http://identifiers.org/clinvar/226636 ^@ NM_031475.2(ESPN):c.909C>G (p.Arg303=) http://identifiers.org/clinvar/228671 ^@ NM_031475.2(ESPN):c.931C>A (p.Leu311Met) http://identifiers.org/clinvar/228668 ^@ NM_031475.2(ESPN):c.1025C>T (p.Ser342Phe) http://identifiers.org/clinvar/227356 ^@ NM_031475.2(ESPN):c.1049C>G (p.Pro350Arg) http://identifiers.org/clinvar/227357 ^@ NM_031475.2(ESPN):c.1080G>A (p.Thr360=) http://identifiers.org/clinvar/227358 ^@ NM_031475.2(ESPN):c.1192+8T>C http://identifiers.org/clinvar/227359 ^@ NM_031475.2(ESPN):c.1947G>A (p.Thr649=) http://identifiers.org/clinvar/226633 ^@ NM_031475.2(ESPN):c.1950C>T (p.Gly650=) http://identifiers.org/clinvar/226634 ^@ NM_031475.2(ESPN):c.2061+7G>A http://identifiers.org/clinvar/226635 ^@ NM_031475.2(ESPN):c.2070G>A (p.Ser690=) http://identifiers.org/clinvar/228669 ^@ NM_031475.2(ESPN):c.2120C>T (p.Pro707Leu) http://identifiers.org/clinvar/227360 ^@ NM_031475.2(ESPN):c.2253C>T (p.Pro751=) http://identifiers.org/clinvar/227361 ^@ NM_031475.2(ESPN):c.2405+12G>A http://identifiers.org/clinvar/227355 ^@ NM_031475.2(ESPN):c.*6G>A http://identifiers.org/clinvar/229061 ^@ NM_144573.3(NEXN):c.86G>T (p.Gly29Val) http://identifiers.org/clinvar/226849 ^@ NM_144573.3(NEXN):c.156C>T (p.Asp52=) http://identifiers.org/clinvar/229058 ^@ NM_144573.3(NEXN):c.379C>T (p.Arg127Cys) http://identifiers.org/clinvar/229059 ^@ NM_144573.3(NEXN):c.836G>A (p.Arg279His) http://identifiers.org/clinvar/229060 ^@ NM_144573.3(NEXN):c.864G>T (p.Met288Ile) http://identifiers.org/clinvar/229051 ^@ NM_144573.3(NEXN):c.1174C>T (p.Arg392Ter) http://identifiers.org/clinvar/229052 ^@ NM_144573.3(NEXN):c.1190G>A (p.Arg397Gln) http://identifiers.org/clinvar/229053 ^@ NM_144573.3(NEXN):c.1234A>G (p.Arg412Gly) http://identifiers.org/clinvar/229054 ^@ NM_144573.3(NEXN):c.1415C>G (p.Ala472Gly) http://identifiers.org/clinvar/229055 ^@ NM_144573.3(NEXN):c.1820_1822delGAG (p.Gly607del) http://identifiers.org/clinvar/229056 ^@ NM_144573.3(NEXN):c.1981G>A (p.Gly661Arg) http://identifiers.org/clinvar/229057 ^@ NM_144573.3(NEXN):c.2015A>G (p.Glu672Gly) http://identifiers.org/clinvar/228341 ^@ NM_022336.3(EDAR):c.(?_509)_(803_?)+34del http://identifiers.org/clinvar/228386 ^@ NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547del http://identifiers.org/clinvar/228690 ^@ NM_201557.3(FHL2):c.523A>C (p.Thr175Pro) http://identifiers.org/clinvar/226845 ^@ NM_001271208.1(NEB):c.25255+12G>A http://identifiers.org/clinvar/226844 ^@ NM_001271208.1(NEB):c.24313-7C>T http://identifiers.org/clinvar/226843 ^@ NM_004543.4(NEB):c.12644A>G (p.Lys4215Arg) http://identifiers.org/clinvar/227731 ^@ NM_001271208.1(NEB):c.13788+12C>G http://identifiers.org/clinvar/227730 ^@ NM_001271208.1(NEB):c.13721A>G (p.His4574Arg) http://identifiers.org/clinvar/226842 ^@ NM_001271208.1(NEB):c.13628A>C (p.Lys4543Thr) http://identifiers.org/clinvar/227729 ^@ NM_001271208.1(NEB):c.13476C>T (p.Asp4492=) http://identifiers.org/clinvar/227728 ^@ NM_001271208.1(NEB):c.13368+11A>G http://identifiers.org/clinvar/227727 ^@ NM_001271208.1(NEB):c.13353C>T (p.Ala4451=) http://identifiers.org/clinvar/227726 ^@ NM_001271208.1(NEB):c.13276G>A (p.Asp4426Asn) http://identifiers.org/clinvar/227725 ^@ NM_001271208.1(NEB):c.13105C>T (p.Leu4369=) http://identifiers.org/clinvar/227724 ^@ NM_001271208.1(NEB):c.12667G>A (p.Ala4223Thr) http://identifiers.org/clinvar/227723 ^@ NM_001271208.1(NEB):c.12483C>T (p.Val4161=) http://identifiers.org/clinvar/226848 ^@ NM_001271208.1(NEB):c.9363T>C (p.Pro3121=) http://identifiers.org/clinvar/226847 ^@ NM_001271208.1(NEB):c.9124T>C (p.Cys3042Arg) http://identifiers.org/clinvar/226846 ^@ NM_001271208.1(NEB):c.6184-14T>A http://identifiers.org/clinvar/229041 ^@ NM_004543.4(NEB):c.194C>T (p.Pro65Leu) http://identifiers.org/clinvar/227296 ^@ NM_001042702.3(DFNB59):c.360C>A (p.Thr120=) http://identifiers.org/clinvar/227297 ^@ NM_001042702.3(DFNB59):c.669C>T (p.Asp223=) http://identifiers.org/clinvar/228569 ^@ NM_001042702.3(DFNB59):c.762A>C (p.Glu254Asp) http://identifiers.org/clinvar/226561 ^@ NM_001042702.3(DFNB59):c.*2A>C http://identifiers.org/clinvar/229575 ^@ NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) http://identifiers.org/clinvar/229574 ^@ NM_001267550.2(TTN):c.107223+1G>A http://identifiers.org/clinvar/229573 ^@ NM_001267550.2(TTN):c.107147delG (p.Gly35716Aspfs) http://identifiers.org/clinvar/229572 ^@ NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) http://identifiers.org/clinvar/229571 ^@ NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met) http://identifiers.org/clinvar/228180 ^@ NM_001267550.2(TTN):c.105843A>T (p.Pro35281=) http://identifiers.org/clinvar/229570 ^@ NM_001267550.2(TTN):c.105466C>G (p.Pro35156Ala) http://identifiers.org/clinvar/229569 ^@ NM_133378.4(TTN):c.96209G>A (p.Arg32070His) http://identifiers.org/clinvar/229567 ^@ NM_001267550.2(TTN):c.103859G>A (p.Arg34620His) http://identifiers.org/clinvar/228179 ^@ NM_133378.4(TTN):c.95876T>C (p.Ile31959Thr) http://identifiers.org/clinvar/229566 ^@ NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) http://identifiers.org/clinvar/229565 ^@ NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) http://identifiers.org/clinvar/228177 ^@ NM_001267550.2(TTN):c.102846T>A (p.Thr34282=) http://identifiers.org/clinvar/229564 ^@ NM_001267550.2(TTN):c.102394T>C (p.Ser34132Pro) http://identifiers.org/clinvar/229562 ^@ NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr) http://identifiers.org/clinvar/229561 ^@ NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) http://identifiers.org/clinvar/229560 ^@ NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys) http://identifiers.org/clinvar/228176 ^@ NM_001267550.2(TTN):c.101214T>C (p.Arg33738=) http://identifiers.org/clinvar/229559 ^@ NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp) http://identifiers.org/clinvar/229558 ^@ NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) http://identifiers.org/clinvar/228174 ^@ NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=) http://identifiers.org/clinvar/229557 ^@ NM_001267550.2(TTN):c.99940C>T (p.Pro33314Ser) http://identifiers.org/clinvar/228309 ^@ NM_001267550.2(TTN):c.99866-1G>A http://identifiers.org/clinvar/229556 ^@ NM_001267550.2(TTN):c.99466C>T (p.His33156Tyr) http://identifiers.org/clinvar/228173 ^@ NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) http://identifiers.org/clinvar/228172 ^@ NM_001267550.2(TTN):c.98292A>G (p.Glu32764=) http://identifiers.org/clinvar/228171 ^@ NM_001267550.2(TTN):c.98203A>G (p.Ile32735Val) http://identifiers.org/clinvar/229555 ^@ NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr) http://identifiers.org/clinvar/229554 ^@ NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys) http://identifiers.org/clinvar/229553 ^@ NM_001267550.2(TTN):c.97331G>A (p.Arg32444His) http://identifiers.org/clinvar/229552 ^@ NM_133378.4(TTN):c.89615G>A (p.Arg29872His) http://identifiers.org/clinvar/229551 ^@ NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) http://identifiers.org/clinvar/229547 ^@ NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp) http://identifiers.org/clinvar/228308 ^@ NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter) http://identifiers.org/clinvar/229550 ^@ NM_001267550.2(TTN):c.96229C>T (p.Arg32077Trp) http://identifiers.org/clinvar/229549 ^@ NM_133378.4(TTN):c.88469G>A (p.Arg29490Gln) http://identifiers.org/clinvar/229548 ^@ NM_001267550.2(TTN):c.95923C>T (p.Leu31975Phe) http://identifiers.org/clinvar/229546 ^@ NM_001267550.2(TTN):c.95594A>T (p.Asp31865Val) http://identifiers.org/clinvar/229545 ^@ NM_001267550.2(TTN):c.95567G>A (p.Arg31856His) http://identifiers.org/clinvar/228170 ^@ NM_001267550.2(TTN):c.95406A>G (p.Arg31802=) http://identifiers.org/clinvar/228169 ^@ NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) http://identifiers.org/clinvar/228168 ^@ NM_133378.4(TTN):c.86316A>G (p.Glu28772=) http://identifiers.org/clinvar/228167 ^@ NM_001267550.2(TTN):c.93570T>C (p.Asn31190=) http://identifiers.org/clinvar/228166 ^@ NM_001267550.2(TTN):c.93292G>A (p.Val31098Ile) http://identifiers.org/clinvar/229544 ^@ NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys) http://identifiers.org/clinvar/229543 ^@ NM_133378.4(TTN):c.85427G>T (p.Gly28476Val) http://identifiers.org/clinvar/228165 ^@ NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser) http://identifiers.org/clinvar/228164 ^@ NM_001267550.2(TTN):c.91326A>G (p.Lys30442=) http://identifiers.org/clinvar/229542 ^@ NM_001267550.2(TTN):c.91108C>G (p.Leu30370Val) http://identifiers.org/clinvar/229541 ^@ NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala) http://identifiers.org/clinvar/228163 ^@ NM_001267550.2(TTN):c.90405T>C (p.Asp30135=) http://identifiers.org/clinvar/228162 ^@ NM_001267550.2(TTN):c.89946C>T (p.Val29982=) http://identifiers.org/clinvar/229540 ^@ NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val) http://identifiers.org/clinvar/229538 ^@ NM_001267550.2(TTN):c.89375C>T (p.Thr29792Ile) http://identifiers.org/clinvar/228161 ^@ NM_001267550.2(TTN):c.89368G>A (p.Val29790Ile) http://identifiers.org/clinvar/229539 ^@ NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile) http://identifiers.org/clinvar/228160 ^@ NM_001267550.2(TTN):c.87390T>A (p.Ile29130=) http://identifiers.org/clinvar/229537 ^@ NM_001267550.2(TTN):c.87377C>G (p.Thr29126Ser) http://identifiers.org/clinvar/228159 ^@ NM_001267550.2(TTN):c.87102T>A (p.Leu29034=) http://identifiers.org/clinvar/229536 ^@ NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu) http://identifiers.org/clinvar/228158 ^@ NM_001267550.2(TTN):c.86934C>T (p.Val28978=) http://identifiers.org/clinvar/228307 ^@ NM_001256850.1(TTN):c.81514G>T (p.Glu27172Ter) http://identifiers.org/clinvar/229535 ^@ NM_001267550.2(TTN):c.86393G>A (p.Arg28798Lys) http://identifiers.org/clinvar/228157 ^@ NM_001256850.1(TTN):c.81216C>T (p.Ser27072=) http://identifiers.org/clinvar/228156 ^@ NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) http://identifiers.org/clinvar/228306 ^@ NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) http://identifiers.org/clinvar/229534 ^@ NM_001267550.2(TTN):c.85130T>C (p.Ile28377Thr) http://identifiers.org/clinvar/229533 ^@ NM_001267550.2(TTN):c.84962A>G (p.Gln28321Arg) http://identifiers.org/clinvar/229532 ^@ NM_001267550.2(TTN):c.84494A>G (p.His28165Arg) http://identifiers.org/clinvar/229531 ^@ NM_001267550.2(TTN):c.84095C>A (p.Thr28032Asn) http://identifiers.org/clinvar/229530 ^@ NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu) http://identifiers.org/clinvar/229529 ^@ NM_001267550.2(TTN):c.83560A>G (p.Thr27854Ala) http://identifiers.org/clinvar/228155 ^@ NM_001267550.2(TTN):c.83514C>T (p.Phe27838=) http://identifiers.org/clinvar/228154 ^@ NM_001267550.2(TTN):c.83115C>T (p.Pro27705=) http://identifiers.org/clinvar/229526 ^@ NM_001267550.2(TTN):c.82759G>A (p.Val27587Ile) http://identifiers.org/clinvar/228152 ^@ NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) http://identifiers.org/clinvar/228151 ^@ NM_001267550.2(TTN):c.82605C>T (p.Thr27535=) http://identifiers.org/clinvar/228150 ^@ NM_001267550.2(TTN):c.82446C>T (p.Thr27482=) http://identifiers.org/clinvar/229525 ^@ NM_001267550.2(TTN):c.81881T>G (p.Val27294Gly) http://identifiers.org/clinvar/228149 ^@ NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) http://identifiers.org/clinvar/229524 ^@ NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile) http://identifiers.org/clinvar/228147 ^@ NM_001267550.2(TTN):c.80898T>C (p.Ser26966=) http://identifiers.org/clinvar/229523 ^@ NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) http://identifiers.org/clinvar/228305 ^@ NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) http://identifiers.org/clinvar/229522 ^@ NM_001267550.2(TTN):c.79207A>G (p.Met26403Val) http://identifiers.org/clinvar/228145 ^@ NM_001267550.2(TTN):c.79072G>A (p.Val26358Ile) http://identifiers.org/clinvar/229521 ^@ NM_001267550.2(TTN):c.78481T>A (p.Phe26161Ile) http://identifiers.org/clinvar/229512 ^@ NM_001267550.2(TTN):c.77171A>T (p.His25724Leu) http://identifiers.org/clinvar/228144 ^@ NM_133378.4(TTN):c.68970T>C (p.Asp22990=) http://identifiers.org/clinvar/229519 ^@ NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala) http://identifiers.org/clinvar/229518 ^@ NM_001267550.2(TTN):c.75833G>A (p.Arg25278His) http://identifiers.org/clinvar/229517 ^@ NM_133378.4(TTN):c.67786G>A (p.Asp22596Asn) http://identifiers.org/clinvar/229516 ^@ NM_001267550.2(TTN):c.75364G>A (p.Val25122Met) http://identifiers.org/clinvar/229515 ^@ NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe) http://identifiers.org/clinvar/229514 ^@ NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) http://identifiers.org/clinvar/228141 ^@ NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) http://identifiers.org/clinvar/228140 ^@ NM_001267550.2(TTN):c.74844G>A (p.Lys24948=) http://identifiers.org/clinvar/229513 ^@ NM_133378.4(TTN):c.66845A>G (p.Asp22282Gly) http://identifiers.org/clinvar/229511 ^@ NM_001267550.2(TTN):c.74416C>T (p.Leu24806Phe) http://identifiers.org/clinvar/228139 ^@ NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) http://identifiers.org/clinvar/229510 ^@ NM_001267550.2(TTN):c.73340G>A (p.Arg24447Lys) http://identifiers.org/clinvar/228138 ^@ NM_001267550.2(TTN):c.73146T>A (p.Thr24382=) http://identifiers.org/clinvar/229509 ^@ NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) http://identifiers.org/clinvar/229508 ^@ NM_001267550.2(TTN):c.72994G>T (p.Val24332Phe) http://identifiers.org/clinvar/228304 ^@ NM_001267550.2(TTN):c.72832dupA (p.Thr24278Asnfs) http://identifiers.org/clinvar/229507 ^@ NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) http://identifiers.org/clinvar/229506 ^@ NM_001267550.2(TTN):c.72236A>G (p.Lys24079Arg) http://identifiers.org/clinvar/229505 ^@ NM_133378.4(TTN):c.64528A>G (p.Ile21510Val) http://identifiers.org/clinvar/228135 ^@ NM_001267550.2(TTN):c.70686C>T (p.Ser23562=) http://identifiers.org/clinvar/229503 ^@ NM_001267550.2(TTN):c.69844G>A (p.Val23282Ile) http://identifiers.org/clinvar/228134 ^@ NM_001267550.2(TTN):c.69546A>G (p.Lys23182=) http://identifiers.org/clinvar/227141 ^@ NM_133378.4(TTN):c.61527T>C (p.Leu20509=) http://identifiers.org/clinvar/229502 ^@ NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=) http://identifiers.org/clinvar/228133 ^@ NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn) http://identifiers.org/clinvar/229501 ^@ NM_001267550.2(TTN):c.68612A>C (p.His22871Pro) http://identifiers.org/clinvar/229500 ^@ NM_001267550.2(TTN):c.68605G>A (p.Gly22869Ser) http://identifiers.org/clinvar/229498 ^@ NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu) http://identifiers.org/clinvar/228132 ^@ NM_001256850.1(TTN):c.63526C>A (p.Arg21176=) http://identifiers.org/clinvar/228131 ^@ NM_001267550.2(TTN):c.68225-5T>C http://identifiers.org/clinvar/229499 ^@ NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) http://identifiers.org/clinvar/229497 ^@ NM_001267550.2(TTN):c.67683G>C (p.Leu22561Phe) http://identifiers.org/clinvar/229495 ^@ NM_001267550.2(TTN):c.66959G>A (p.Arg22320His) http://identifiers.org/clinvar/228130 ^@ NM_001267550.2(TTN):c.66804G>A (p.Arg22268=) http://identifiers.org/clinvar/229493 ^@ NM_001267550.2(TTN):c.66610G>A (p.Val22204Met) http://identifiers.org/clinvar/229492 ^@ NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu) http://identifiers.org/clinvar/228129 ^@ NM_001267550.2(TTN):c.66240A>C (p.Ala22080=) http://identifiers.org/clinvar/229491 ^@ NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) http://identifiers.org/clinvar/228128 ^@ NM_001256850.1(TTN):c.60948G>A (p.Pro20316=) http://identifiers.org/clinvar/229490 ^@ NM_001256850.1(TTN):c.60651T>C (p.Asn20217=) http://identifiers.org/clinvar/228127 ^@ NM_001256850.1(TTN):c.60456C>T (p.Phe20152=) http://identifiers.org/clinvar/228126 ^@ NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) http://identifiers.org/clinvar/229489 ^@ NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser) http://identifiers.org/clinvar/228125 ^@ NM_133378.4(TTN):c.57469G>A (p.Val19157Ile) http://identifiers.org/clinvar/229488 ^@ NM_001267550.2(TTN):c.65161T>C (p.Cys21721Arg) http://identifiers.org/clinvar/229487 ^@ NM_001267550.2(TTN):c.65158C>A (p.Pro21720Thr) http://identifiers.org/clinvar/228124 ^@ NM_001267550.2(TTN):c.64998A>G (p.Ala21666=) http://identifiers.org/clinvar/229486 ^@ NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met) http://identifiers.org/clinvar/228303 ^@ NM_001267550.2(TTN):c.64397-1G>C http://identifiers.org/clinvar/228123 ^@ NM_001267550.2(TTN):c.64326G>A (p.Ala21442=) http://identifiers.org/clinvar/228302 ^@ NM_001267550.2(TTN):c.64094-2A>G http://identifiers.org/clinvar/228122 ^@ NM_001267550.2(TTN):c.64005G>A (p.Glu21335=) http://identifiers.org/clinvar/228120 ^@ NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) http://identifiers.org/clinvar/229485 ^@ NM_001267550.2(TTN):c.63241A>T (p.Ile21081Leu) http://identifiers.org/clinvar/228301 ^@ NM_001267550.2(TTN):c.62909dupC (p.Glu20971Argfs) http://identifiers.org/clinvar/229483 ^@ NM_001267550.2(TTN):c.61631A>G (p.His20544Arg) http://identifiers.org/clinvar/229482 ^@ NM_001267550.2(TTN):c.61615G>A (p.Ala20539Thr) http://identifiers.org/clinvar/228119 ^@ NM_001256850.1(TTN):c.56301G>A (p.Val18767=) http://identifiers.org/clinvar/228118 ^@ NM_001267550.2(TTN):c.61138C>T (p.Leu20380=) http://identifiers.org/clinvar/228117 ^@ NM_001267550.2(TTN):c.60756A>G (p.Ile20252Met) http://identifiers.org/clinvar/229481 ^@ NM_001267550.2(TTN):c.60571A>C (p.Ile20191Leu) http://identifiers.org/clinvar/229480 ^@ NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) http://identifiers.org/clinvar/228116 ^@ NM_001256850.1(TTN):c.55275G>A (p.Pro18425=) http://identifiers.org/clinvar/228115 ^@ NM_001267550.2(TTN):c.60180C>T (p.Leu20060=) http://identifiers.org/clinvar/229479 ^@ NM_001267550.2(TTN):c.60023C>T (p.Pro20008Leu) http://identifiers.org/clinvar/229477 ^@ NM_001267550.2(TTN):c.59632C>T (p.Pro19878Ser) http://identifiers.org/clinvar/229476 ^@ NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) http://identifiers.org/clinvar/229475 ^@ NM_001267550.2(TTN):c.59360T>A (p.Ile19787Asn) http://identifiers.org/clinvar/228114 ^@ NM_001267550.2(TTN):c.59073T>C (p.Asp19691=) http://identifiers.org/clinvar/229474 ^@ NM_001267550.2(TTN):c.58711A>G (p.Met19571Val) http://identifiers.org/clinvar/228113 ^@ NM_001267550.2(TTN):c.58395A>G (p.Thr19465=) http://identifiers.org/clinvar/229473 ^@ NM_001267550.2(TTN):c.58394C>G (p.Thr19465Arg) http://identifiers.org/clinvar/228112 ^@ NM_001267550.2(TTN):c.58392T>C (p.Ser19464=) http://identifiers.org/clinvar/228111 ^@ NM_001267550.2(TTN):c.58155C>A (p.Pro19385=) http://identifiers.org/clinvar/228110 ^@ NM_001267550.2(TTN):c.57786T>C (p.Asn19262=) http://identifiers.org/clinvar/229472 ^@ NM_001267550.2(TTN):c.57693G>T (p.Trp19231Cys) http://identifiers.org/clinvar/228109 ^@ NM_001267550.2(TTN):c.57544+7dupA http://identifiers.org/clinvar/229470 ^@ NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu) http://identifiers.org/clinvar/229469 ^@ NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val) http://identifiers.org/clinvar/229468 ^@ NM_001267550.2(TTN):c.57017A>G (p.Asp19006Gly) http://identifiers.org/clinvar/229467 ^@ NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) http://identifiers.org/clinvar/229466 ^@ NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) http://identifiers.org/clinvar/229460 ^@ NM_001267550.2(TTN):c.55952A>G (p.Glu18651Gly) http://identifiers.org/clinvar/229465 ^@ NM_001267550.2(TTN):c.55805C>A (p.Pro18602His) http://identifiers.org/clinvar/228108 ^@ NM_001267550.2(TTN):c.55278T>C (p.Val18426=) http://identifiers.org/clinvar/229464 ^@ NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) http://identifiers.org/clinvar/229463 ^@ NM_001267550.2(TTN):c.54493C>T (p.Arg18165Cys) http://identifiers.org/clinvar/229462 ^@ NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) http://identifiers.org/clinvar/229461 ^@ NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) http://identifiers.org/clinvar/228107 ^@ NM_001267550.2(TTN):c.53002+10G>T http://identifiers.org/clinvar/229459 ^@ NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp) http://identifiers.org/clinvar/229458 ^@ NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) http://identifiers.org/clinvar/229457 ^@ NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) http://identifiers.org/clinvar/229456 ^@ NM_001267550.2(TTN):c.52330C>T (p.Arg17444Cys) http://identifiers.org/clinvar/229455 ^@ NM_001267550.2(TTN):c.52223A>C (p.Lys17408Thr) http://identifiers.org/clinvar/229454 ^@ NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) http://identifiers.org/clinvar/229453 ^@ NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) http://identifiers.org/clinvar/228106 ^@ NM_001267550.2(TTN):c.51570T>G (p.Gly17190=) http://identifiers.org/clinvar/229452 ^@ NM_001267550.2(TTN):c.51439C>A (p.Pro17147Thr) http://identifiers.org/clinvar/229451 ^@ NM_001267550.2(TTN):c.51338C>T (p.Pro17113Leu) http://identifiers.org/clinvar/229450 ^@ NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn) http://identifiers.org/clinvar/229449 ^@ NM_003319.4(TTN):c.23563C>G (p.Pro7855Ala) http://identifiers.org/clinvar/229448 ^@ NM_133378.4(TTN):c.42938G>C (p.Gly14313Ala) http://identifiers.org/clinvar/228105 ^@ NM_001267550.2(TTN):c.50244C>T (p.Thr16748=) http://identifiers.org/clinvar/228104 ^@ NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) http://identifiers.org/clinvar/228103 ^@ NM_001267550.2(TTN):c.49701A>G (p.Ser16567=) http://identifiers.org/clinvar/228102 ^@ NM_001267550.2(TTN):c.49648+13T>A http://identifiers.org/clinvar/229447 ^@ NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys) http://identifiers.org/clinvar/229446 ^@ NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) http://identifiers.org/clinvar/228101 ^@ NM_001267550.2(TTN):c.49008G>A (p.Val16336=) http://identifiers.org/clinvar/228300 ^@ NM_001267550.2(TTN):c.48761-1G>C http://identifiers.org/clinvar/229445 ^@ NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) http://identifiers.org/clinvar/229442 ^@ NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser) http://identifiers.org/clinvar/228100 ^@ NM_001267550.2(TTN):c.48432T>C (p.Asp16144=) http://identifiers.org/clinvar/229441 ^@ NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala) http://identifiers.org/clinvar/228099 ^@ NM_001267550.2(TTN):c.48021C>T (p.Asp16007=) http://identifiers.org/clinvar/228098 ^@ NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) http://identifiers.org/clinvar/229440 ^@ NM_001267550.2(TTN):c.46670_46672delAAG (p.Glu15557del) http://identifiers.org/clinvar/228097 ^@ NM_001267550.2(TTN):c.46659C>G (p.Ala15553=) http://identifiers.org/clinvar/229439 ^@ NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) http://identifiers.org/clinvar/228096 ^@ NM_001267550.2(TTN):c.45895+10T>A http://identifiers.org/clinvar/228095 ^@ NM_001267550.2(TTN):c.45120T>C (p.Ile15040=) http://identifiers.org/clinvar/229436 ^@ NM_001267550.2(TTN):c.45082+6A>G http://identifiers.org/clinvar/229438 ^@ NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) http://identifiers.org/clinvar/229437 ^@ NM_133378.4(TTN):c.36889G>A (p.Glu12297Lys) http://identifiers.org/clinvar/229435 ^@ NM_001267550.2(TTN):c.44390A>G (p.Tyr14797Cys) http://identifiers.org/clinvar/229434 ^@ NM_001267550.2(TTN):c.44282-6G>A http://identifiers.org/clinvar/228094 ^@ NM_001267550.2(TTN):c.44281+8T>C http://identifiers.org/clinvar/228093 ^@ NM_001267550.2(TTN):c.44014+15A>C http://identifiers.org/clinvar/229432 ^@ NM_001267550.2(TTN):c.43984G>C (p.Asp14662His) http://identifiers.org/clinvar/229433 ^@ NM_001267550.2(TTN):c.43702G>A (p.Val14568Ile) http://identifiers.org/clinvar/228092 ^@ NM_001267550.2(TTN):c.42304G>A (p.Ala14102Thr) http://identifiers.org/clinvar/228091 ^@ NM_001267550.2(TTN):c.41982T>C (p.Pro13994=) http://identifiers.org/clinvar/228299 ^@ NM_001267550.2(TTN):c.41483delC (p.Pro13828Glnfs) http://identifiers.org/clinvar/228090 ^@ NM_001267550.2(TTN):c.41329+9T>C http://identifiers.org/clinvar/228089 ^@ NM_001267550.2(TTN):c.41253C>T (p.Ser13751=) http://identifiers.org/clinvar/229430 ^@ NM_001267550.2(TTN):c.41140A>G (p.Thr13714Ala) http://identifiers.org/clinvar/229431 ^@ NM_001267550.2(TTN):c.40723+1delG http://identifiers.org/clinvar/229429 ^@ NM_001267550.2(TTN):c.39895G>A (p.Glu13299Lys) http://identifiers.org/clinvar/229424 ^@ NM_001267550.2(TTN):c.39472G>A (p.Val13158Met) http://identifiers.org/clinvar/229428 ^@ NM_001267550.2(TTN):c.39457G>A (p.Val13153Met) http://identifiers.org/clinvar/229427 ^@ NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) http://identifiers.org/clinvar/229426 ^@ NM_001267550.2(TTN):c.34058T>C (p.Phe11353Ser) http://identifiers.org/clinvar/229425 ^@ NM_001267550.2(TTN):c.33911-6_33911-5insG http://identifiers.org/clinvar/228085 ^@ NM_001267550.2(TTN):c.33762A>G (p.Lys11254=) http://identifiers.org/clinvar/229423 ^@ NM_001267550.2(TTN):c.33479C>T (p.Thr11160Ile) http://identifiers.org/clinvar/228084 ^@ NM_001256850.1(TTN):c.32467+12C>A http://identifiers.org/clinvar/229422 ^@ NM_001267550.2(TTN):c.33404C>A (p.Ala11135Glu) http://identifiers.org/clinvar/229421 ^@ NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) http://identifiers.org/clinvar/229420 ^@ NM_001267550.2(TTN):c.33248-8C>G http://identifiers.org/clinvar/229419 ^@ NM_001267550.2(TTN):c.33172+4G>A http://identifiers.org/clinvar/229418 ^@ NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) http://identifiers.org/clinvar/229417 ^@ NM_001267550.2(TTN):c.32866delA (p.Arg10956Glufs) http://identifiers.org/clinvar/228083 ^@ NM_001267550.2(TTN):c.32722+8C>T http://identifiers.org/clinvar/228082 ^@ NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) http://identifiers.org/clinvar/229416 ^@ NM_001267550.2(TTN):c.32449G>A (p.Glu10817Lys) http://identifiers.org/clinvar/228081 ^@ NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val) http://identifiers.org/clinvar/228079 ^@ NM_001267550.2(TTN):c.31542T>C (p.Thr10514=) http://identifiers.org/clinvar/228078 ^@ NM_001267550.2(TTN):c.31533A>G (p.Glu10511=) http://identifiers.org/clinvar/229414 ^@ NM_001267550.2(TTN):c.31207+5G>A http://identifiers.org/clinvar/229413 ^@ NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser) http://identifiers.org/clinvar/229412 ^@ NM_001267550.2(TTN):c.29278G>A (p.Asp9760Asn) http://identifiers.org/clinvar/229411 ^@ NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys) http://identifiers.org/clinvar/228075 ^@ NM_001267550.2(TTN):c.28818C>T (p.Tyr9606=) http://identifiers.org/clinvar/229410 ^@ NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) http://identifiers.org/clinvar/228074 ^@ NM_001267550.2(TTN):c.28653G>C (p.Leu9551=) http://identifiers.org/clinvar/229408 ^@ NM_001267550.2(TTN):c.28587A>C (p.Lys9529Asn) http://identifiers.org/clinvar/228073 ^@ NM_001267550.2(TTN):c.28509A>G (p.Val9503=) http://identifiers.org/clinvar/229409 ^@ NM_001267550.2(TTN):c.27886+5T>C http://identifiers.org/clinvar/229407 ^@ NM_001267550.2(TTN):c.27328+4T>G http://identifiers.org/clinvar/229406 ^@ NM_001267550.2(TTN):c.27217G>C (p.Val9073Leu) http://identifiers.org/clinvar/228072 ^@ NM_001267550.2(TTN):c.26916C>T (p.Tyr8972=) http://identifiers.org/clinvar/229401 ^@ NM_001267550.2(TTN):c.26762-9A>G http://identifiers.org/clinvar/229405 ^@ NM_133378.4(TTN):c.22412G>A (p.Cys7471Tyr) http://identifiers.org/clinvar/229403 ^@ NM_133378.4(TTN):c.21173C>A (p.Thr7058Lys) http://identifiers.org/clinvar/228071 ^@ NM_133378.4(TTN):c.20773+13C>T http://identifiers.org/clinvar/228070 ^@ NM_001256850.1(TTN):c.23205A>G (p.Thr7735=) http://identifiers.org/clinvar/229400 ^@ NM_001267550.2(TTN):c.23939-13C>A http://identifiers.org/clinvar/229399 ^@ NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) http://identifiers.org/clinvar/228068 ^@ NM_001256850.1(TTN):c.22227G>A (p.Ser7409=) http://identifiers.org/clinvar/229398 ^@ NM_133378.4(TTN):c.19367-15_19367-11dupCCTTT http://identifiers.org/clinvar/228067 ^@ NM_001267550.2(TTN):c.22569T>C (p.Ser7523=) http://identifiers.org/clinvar/229397 ^@ NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly) http://identifiers.org/clinvar/228066 ^@ NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) http://identifiers.org/clinvar/229396 ^@ NM_133378.4(TTN):c.18224C>T (p.Thr6075Ile) http://identifiers.org/clinvar/229394 ^@ NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys) http://identifiers.org/clinvar/228065 ^@ NM_001267550.2(TTN):c.20736A>G (p.Leu6912=) http://identifiers.org/clinvar/229395 ^@ NM_001267550.2(TTN):c.20468T>G (p.Val6823Gly) http://identifiers.org/clinvar/228064 ^@ NM_001267550.2(TTN):c.20263G>C (p.Val6755Leu) http://identifiers.org/clinvar/228063 ^@ NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) http://identifiers.org/clinvar/229393 ^@ NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly) http://identifiers.org/clinvar/228062 ^@ NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) http://identifiers.org/clinvar/228061 ^@ NM_001267550.2(TTN):c.18456T>C (p.His6152=) http://identifiers.org/clinvar/228060 ^@ NM_001267550.2(TTN):c.18231C>T (p.Thr6077=) http://identifiers.org/clinvar/229392 ^@ NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) http://identifiers.org/clinvar/228059 ^@ NM_001256850.1(TTN):c.16164C>T (p.Gly5388=) http://identifiers.org/clinvar/229391 ^@ NM_001267550.2(TTN):c.17075T>C (p.Val5692Ala) http://identifiers.org/clinvar/229390 ^@ NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn) http://identifiers.org/clinvar/229389 ^@ NM_001267550.2(TTN):c.16492A>G (p.Ile5498Val) http://identifiers.org/clinvar/229387 ^@ NM_001267550.2(TTN):c.16367C>A (p.Pro5456His) http://identifiers.org/clinvar/229388 ^@ NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly) http://identifiers.org/clinvar/228058 ^@ NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) http://identifiers.org/clinvar/229386 ^@ NM_001267550.2(TTN):c.15415A>G (p.Ser5139Gly) http://identifiers.org/clinvar/229385 ^@ NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala) http://identifiers.org/clinvar/228310 ^@ NM_001267550.2(TTN):c.13614dupT (p.Asn4539Terfs) http://identifiers.org/clinvar/229595 ^@ NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr) http://identifiers.org/clinvar/229592 ^@ NM_001267550.2(TTN):c.12851A>C (p.Gln4284Pro) http://identifiers.org/clinvar/229594 ^@ NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) http://identifiers.org/clinvar/229593 ^@ NM_001267550.2(TTN):c.12361G>C (p.Asp4121His) http://identifiers.org/clinvar/228189 ^@ NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) http://identifiers.org/clinvar/228188 ^@ NM_001267550.2(TTN):c.11502G>A (p.Gly3834=) http://identifiers.org/clinvar/228187 ^@ NM_133379.4(TTN):c.16584T>C (p.Gly5528=) http://identifiers.org/clinvar/229591 ^@ NM_133379.4(TTN):c.16471A>C (p.Met5491Leu) http://identifiers.org/clinvar/229590 ^@ NM_133379.4(TTN):c.16384G>A (p.Ala5462Thr) http://identifiers.org/clinvar/229589 ^@ NM_133379.4(TTN):c.16016A>G (p.Asp5339Gly) http://identifiers.org/clinvar/229588 ^@ NM_133379.4(TTN):c.15768T>A (p.His5256Gln) http://identifiers.org/clinvar/228186 ^@ NM_133379.4(TTN):c.15660A>G (p.Lys5220=) http://identifiers.org/clinvar/229587 ^@ NM_133379.4(TTN):c.15302A>G (p.Glu5101Gly) http://identifiers.org/clinvar/229586 ^@ NM_133379.4(TTN):c.14767A>G (p.Thr4923Ala) http://identifiers.org/clinvar/229585 ^@ NM_133379.4(TTN):c.14615C>G (p.Ser4872Cys) http://identifiers.org/clinvar/228185 ^@ NM_133379.4(TTN):c.14493C>T (p.Cys4831=) http://identifiers.org/clinvar/228184 ^@ NM_133379.4(TTN):c.14399G>A (p.Gly4800Glu) http://identifiers.org/clinvar/229584 ^@ NM_133379.4(TTN):c.14114G>A (p.Arg4705Gln) http://identifiers.org/clinvar/229583 ^@ NM_133379.4(TTN):c.13252T>A (p.Tyr4418Asn) http://identifiers.org/clinvar/229582 ^@ NM_133379.4(TTN):c.13103A>G (p.Glu4368Gly) http://identifiers.org/clinvar/229581 ^@ NM_133379.4(TTN):c.13075G>A (p.Ala4359Thr) http://identifiers.org/clinvar/229580 ^@ NM_133379.4(TTN):c.13013A>G (p.His4338Arg) http://identifiers.org/clinvar/228183 ^@ NM_133379.4(TTN):c.12153C>T (p.Asp4051=) http://identifiers.org/clinvar/229579 ^@ NM_133379.4(TTN):c.12109C>T (p.Gln4037Ter) http://identifiers.org/clinvar/228182 ^@ NM_133379.4(TTN):c.12007C>T (p.Leu4003Phe) http://identifiers.org/clinvar/228181 ^@ NM_001256850.1(TTN):c.10360+2649G>A http://identifiers.org/clinvar/229578 ^@ NM_133379.4(TTN):c.11512C>T (p.Gln3838Ter) http://identifiers.org/clinvar/229577 ^@ NM_133379.4(TTN):c.10837G>A (p.Ala3613Thr) http://identifiers.org/clinvar/229576 ^@ NM_133379.4(TTN):c.10633C>T (p.Pro3545Ser) http://identifiers.org/clinvar/228298 ^@ NM_001267550.2(TTN):c.10241_10247delACACGTT (p.Tyr3414Leufs) http://identifiers.org/clinvar/228057 ^@ NM_001267550.2(TTN):c.10114+14C>T http://identifiers.org/clinvar/229383 ^@ NM_001267550.2(TTN):c.10045A>G (p.Thr3349Ala) http://identifiers.org/clinvar/228178 ^@ NM_133378.4(TTN):c.9519C>T (p.Asp3173=) http://identifiers.org/clinvar/229563 ^@ NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln) http://identifiers.org/clinvar/228175 ^@ NM_001267550.2(TTN):c.9306-4A>G http://identifiers.org/clinvar/229528 ^@ NM_001267550.2(TTN):c.7556T>G (p.Val2519Gly) http://identifiers.org/clinvar/229527 ^@ NM_001267550.2(TTN):c.7556T>C (p.Val2519Ala) http://identifiers.org/clinvar/228153 ^@ NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) http://identifiers.org/clinvar/228148 ^@ NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) http://identifiers.org/clinvar/229520 ^@ NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys) http://identifiers.org/clinvar/228143 ^@ NM_001267550.2(TTN):c.6790+13G>A http://identifiers.org/clinvar/228142 ^@ NM_001267550.2(TTN):c.6783T>A (p.Ile2261=) http://identifiers.org/clinvar/228137 ^@ NM_133378.4(TTN):c.6508+15T>C http://identifiers.org/clinvar/228136 ^@ NM_001267550.2(TTN):c.6508+14C>A http://identifiers.org/clinvar/229504 ^@ NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) http://identifiers.org/clinvar/229494 ^@ NM_001267550.2(TTN):c.5929G>A (p.Val1977Met) http://identifiers.org/clinvar/229484 ^@ NM_001267550.2(TTN):c.5423A>C (p.Glu1808Ala) http://identifiers.org/clinvar/229478 ^@ NM_001267550.2(TTN):c.5192A>G (p.Asp1731Gly) http://identifiers.org/clinvar/229471 ^@ NM_001267550.2(TTN):c.4960C>G (p.Pro1654Ala) http://identifiers.org/clinvar/229444 ^@ NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) http://identifiers.org/clinvar/228088 ^@ NM_001267550.2(TTN):c.3228T>C (p.Pro1076=) http://identifiers.org/clinvar/228087 ^@ NM_001267550.2(TTN):c.3201T>C (p.Thr1067=) http://identifiers.org/clinvar/228086 ^@ NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) http://identifiers.org/clinvar/228080 ^@ NM_001267550.2(TTN):c.2807T>C (p.Val936Ala) http://identifiers.org/clinvar/229415 ^@ NM_001267550.2(TTN):c.2776G>A (p.Val926Ile) http://identifiers.org/clinvar/228077 ^@ NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg) http://identifiers.org/clinvar/228076 ^@ NM_001267550.2(TTN):c.2607T>C (p.Thr869=) http://identifiers.org/clinvar/229404 ^@ NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg) http://identifiers.org/clinvar/228069 ^@ NM_001256850.1(TTN):c.1953C>T (p.Ala651=) http://identifiers.org/clinvar/229384 ^@ NM_001267550.2(TTN):c.1049A>G (p.Tyr350Cys) http://identifiers.org/clinvar/229568 ^@ NM_001267550.2(TTN):c.961G>A (p.Val321Ile) http://identifiers.org/clinvar/229496 ^@ NM_001267550.2(TTN):c.593_595delAAG (p.Glu198del) http://identifiers.org/clinvar/228121 ^@ NM_001267550.2(TTN):c.561G>A (p.Ser187=) http://identifiers.org/clinvar/229402 ^@ NM_001267550.2(TTN):c.202C>T (p.Pro68Ser) http://identifiers.org/clinvar/228146 ^@ NM_133378.4(TTN):c.72C>G (p.Thr24=) http://identifiers.org/clinvar/229443 ^@ NM_001267550.2(TTN):c.41G>T (p.Ser14Ile) http://identifiers.org/clinvar/228249 ^@ NM_000090.3(COL3A1):c.754G>T (p.Gly252Cys) http://identifiers.org/clinvar/226540 ^@ NM_000090.3(COL3A1):c.4059G= (p.Gln1353=) http://identifiers.org/clinvar/228460 ^@ NM_001204.6(BMPR2):c.901T>C (p.Ser301Pro) http://identifiers.org/clinvar/228245 ^@ NM_000384.2(APOB):c.631C>T (p.Gln211Ter) http://identifiers.org/clinvar/227284 ^@ NM_001927.3(DES):c.99C>T (p.Pro33=) http://identifiers.org/clinvar/228547 ^@ NM_001927.3(DES):c.347A>T (p.Asn116Ile) http://identifiers.org/clinvar/228548 ^@ NM_001927.3(DES):c.369delC (p.Ile123Metfs) http://identifiers.org/clinvar/228549 ^@ NM_001927.3(DES):c.376G>T (p.Val126Leu) http://identifiers.org/clinvar/227281 ^@ NM_001927.3(DES):c.404C>T (p.Ala135Val) http://identifiers.org/clinvar/227282 ^@ NM_001927.3(DES):c.639+13_639+15delCTT http://identifiers.org/clinvar/228550 ^@ NM_001927.3(DES):c.656C>T (p.Thr219Ile) http://identifiers.org/clinvar/228551 ^@ NM_001927.3(DES):c.853G>A (p.Ala285Thr) http://identifiers.org/clinvar/227283 ^@ NM_001927.3(DES):c.894G>A (p.Ser298=) http://identifiers.org/clinvar/228553 ^@ NM_001927.3(DES):c.937G>A (p.Ala313Thr) http://identifiers.org/clinvar/228554 ^@ NM_001927.3(DES):c.974G>A (p.Arg325Gln) http://identifiers.org/clinvar/226559 ^@ NM_001927.3(DES):c.1353C>T (p.Ile451=) http://identifiers.org/clinvar/228546 ^@ NM_001927.3(DES):c.1372-3dupC http://identifiers.org/clinvar/227834 ^@ NM_181461.3(PAX3):c.1202C>T (p.Ser401Leu) http://identifiers.org/clinvar/229128 ^@ NM_181457.3(PAX3):c.1174-3delT http://identifiers.org/clinvar/226998 ^@ NM_181457.3(PAX3):c.1174-10G>C http://identifiers.org/clinvar/226993 ^@ NM_181457.3(PAX3):c.1003C>T (p.Pro335Ser) http://identifiers.org/clinvar/226997 ^@ NM_181457.3(PAX3):c.879G>T (p.Gly293=) http://identifiers.org/clinvar/226996 ^@ NM_181457.3(PAX3):c.873C>T (p.Pro291=) http://identifiers.org/clinvar/228387 ^@ NM_181457.3(PAX3):c.668G>A (p.Arg223Gln) http://identifiers.org/clinvar/227833 ^@ NM_000438.5(PAX3):c.643A>G (p.Ser215Gly) http://identifiers.org/clinvar/229127 ^@ NM_181457.3(PAX3):c.572T>C (p.Ile191Thr) http://identifiers.org/clinvar/229126 ^@ NM_181457.3(PAX3):c.561C>G (p.Ser187Arg) http://identifiers.org/clinvar/226992 ^@ NM_181457.3(PAX3):c.525G>C (p.Lys175Asn) http://identifiers.org/clinvar/226995 ^@ NM_181457.3(PAX3):c.321+10C>A http://identifiers.org/clinvar/226994 ^@ NM_181457.3(PAX3):c.156C>G (p.Pro52=) http://identifiers.org/clinvar/227759 ^@ NM_194248.2(OTOF):c.*105C>T http://identifiers.org/clinvar/228317 ^@ NM_194248.2(OTOF):c.*13_*15delCCT http://identifiers.org/clinvar/229081 ^@ NM_194248.2(OTOF):c.5479C>T (p.Arg1827Trp) http://identifiers.org/clinvar/227757 ^@ NM_194248.2(OTOF):c.5159C>T (p.Thr1720Met) http://identifiers.org/clinvar/227756 ^@ NM_194248.2(OTOF):c.4401C>T (p.Asp1467=) http://identifiers.org/clinvar/229080 ^@ NM_194248.2(OTOF):c.4128G>T (p.Arg1376Ser) http://identifiers.org/clinvar/229078 ^@ NM_194248.2(OTOF):c.3928_3930delAAG (p.Lys1310del) http://identifiers.org/clinvar/229077 ^@ NM_194248.2(OTOF):c.3918G>C (p.Lys1306Asn) http://identifiers.org/clinvar/229075 ^@ NM_194248.2(OTOF):c.3488C>T (p.Ala1163Val) http://identifiers.org/clinvar/226857 ^@ NM_194248.2(OTOF):c.3471G>T (p.Arg1157=) http://identifiers.org/clinvar/227755 ^@ NM_194248.2(OTOF):c.3384C>T (p.Pro1128=) http://identifiers.org/clinvar/229074 ^@ NM_194248.2(OTOF):c.3290T>C (p.Ile1097Thr) http://identifiers.org/clinvar/227754 ^@ NM_194248.2(OTOF):c.3288+8T>C http://identifiers.org/clinvar/229072 ^@ NM_194248.2(OTOF):c.2956C>T (p.Arg986Cys) http://identifiers.org/clinvar/227753 ^@ NM_194248.2(OTOF):c.2848G>A (p.Val950Ile) http://identifiers.org/clinvar/227752 ^@ NM_194248.2(OTOF):c.2520C>T (p.Asp840=) http://identifiers.org/clinvar/229083 ^@ NM_194248.2(OTOF):c.2287G>T (p.Val763Phe) http://identifiers.org/clinvar/229071 ^@ NM_194248.2(OTOF):c.2168G>A (p.Arg723His) http://identifiers.org/clinvar/229070 ^@ NM_194248.2(OTOF):c.2147G>A (p.Ser716Asn) http://identifiers.org/clinvar/227758 ^@ NM_194248.2(OTOF):c.894C>T (p.Asn298=) http://identifiers.org/clinvar/229076 ^@ NM_194248.2(OTOF):c.388G>A (p.Asp130Asn) http://identifiers.org/clinvar/229073 ^@ NM_194248.2(OTOF):c.327+3G>C http://identifiers.org/clinvar/229082 ^@ NM_194248.2(OTOF):c.80G>A (p.Gly27Glu) http://identifiers.org/clinvar/227956 ^@ NM_005633.3(SOS1):c.3060C>T (p.Asn1020=) http://identifiers.org/clinvar/229262 ^@ NM_005633.3(SOS1):c.1564A>C (p.Asn522His) http://identifiers.org/clinvar/227955 ^@ NM_005633.3(SOS1):c.1203-13T>A http://identifiers.org/clinvar/229263 ^@ NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) http://identifiers.org/clinvar/227957 ^@ NM_005633.3(SOS1):c.87+12G>T http://identifiers.org/clinvar/228365 ^@ NM_000251.2(MSH2):c.1384C>T (p.Gln462Ter) http://identifiers.org/clinvar/227073 ^@ NM_198843.2(SFTPB):c.744C>T (p.Arg248=) http://identifiers.org/clinvar/227072 ^@ NM_198843.2(SFTPB):c.565G>A (p.Val189Ile) http://identifiers.org/clinvar/227945 ^@ NM_198843.2(SFTPB):c.77_79delTGC (p.Leu26del) http://identifiers.org/clinvar/229174 ^@ NM_002880.3(RAF1):c.(?_-26)-50_(1370_?)+72dup http://identifiers.org/clinvar/228360 ^@ NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del http://identifiers.org/clinvar/228361 ^@ NM_198159.2(MITF):c.(?_938)-102_*(78_?)del http://identifiers.org/clinvar/228746 ^@ NM_001199799.1(ILDR1):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/227439 ^@ NM_001199799.1(ILDR1):c.1378G>A (p.Gly460Arg) http://identifiers.org/clinvar/228738 ^@ NM_001199799.1(ILDR1):c.1245G>T (p.Trp415Cys) http://identifiers.org/clinvar/227438 ^@ NM_001199799.1(ILDR1):c.1194G>A (p.Ser398=) http://identifiers.org/clinvar/227441 ^@ NM_001199799.1(ILDR1):c.801C>G (p.Leu267=) http://identifiers.org/clinvar/228749 ^@ NM_001199799.1(ILDR1):c.794C>T (p.Ser265Phe) http://identifiers.org/clinvar/228748 ^@ NM_001199799.1(ILDR1):c.772C>T (p.Gln258Ter) http://identifiers.org/clinvar/228747 ^@ NM_001199799.1(ILDR1):c.230-9delT http://identifiers.org/clinvar/227440 ^@ NM_001199799.1(ILDR1):c.225A>G (p.Ser75=) http://identifiers.org/clinvar/226772 ^@ NM_053025.3(MYLK):c.5079G>A (p.Lys1693=) http://identifiers.org/clinvar/226771 ^@ NM_053025.3(MYLK):c.4842T>C (p.Asn1614=) http://identifiers.org/clinvar/227625 ^@ NM_053025.3(MYLK):c.4620-6C>T http://identifiers.org/clinvar/226770 ^@ NM_053025.3(MYLK):c.4317T>C (p.Asp1439=) http://identifiers.org/clinvar/226768 ^@ NM_053025.3(MYLK):c.4289-3dupC http://identifiers.org/clinvar/226769 ^@ NM_053025.3(MYLK):c.4289-4C>G http://identifiers.org/clinvar/226767 ^@ NM_053025.3(MYLK):c.4194C>T (p.His1398=) http://identifiers.org/clinvar/227624 ^@ NM_053025.3(MYLK):c.3832-6C>T http://identifiers.org/clinvar/226765 ^@ NM_053025.3(MYLK):c.3652+11G>A http://identifiers.org/clinvar/226764 ^@ NM_053025.3(MYLK):c.3558C>T (p.Thr1186=) http://identifiers.org/clinvar/226763 ^@ NM_053025.3(MYLK):c.3525C>T (p.Asp1175=) http://identifiers.org/clinvar/226762 ^@ NM_053025.3(MYLK):c.3448+15G>A http://identifiers.org/clinvar/226761 ^@ NM_053025.3(MYLK):c.3253A>G (p.Thr1085Ala) http://identifiers.org/clinvar/226760 ^@ NM_053025.3(MYLK):c.3075C>T (p.Pro1025=) http://identifiers.org/clinvar/226759 ^@ NM_053025.3(MYLK):c.2742C>A (p.Asp914Glu) http://identifiers.org/clinvar/226758 ^@ NM_053025.3(MYLK):c.2582T>C (p.Leu861Pro) http://identifiers.org/clinvar/228937 ^@ NM_053025.3(MYLK):c.1991A>G (p.Gln664Arg) http://identifiers.org/clinvar/226757 ^@ NM_053025.3(MYLK):c.1804+8C>T http://identifiers.org/clinvar/226756 ^@ NM_053025.3(MYLK):c.1651+6T>A http://identifiers.org/clinvar/226755 ^@ NM_053025.3(MYLK):c.1486C>G (p.Leu496Val) http://identifiers.org/clinvar/226754 ^@ NM_053025.3(MYLK):c.1327C>T (p.Pro443Ser) http://identifiers.org/clinvar/226753 ^@ NM_053025.3(MYLK):c.1005C>T (p.Thr335=) http://identifiers.org/clinvar/226774 ^@ NM_053025.3(MYLK):c.782T>C (p.Val261Ala) http://identifiers.org/clinvar/226766 ^@ NM_053025.3(MYLK):c.411C>G (p.Ser137=) http://identifiers.org/clinvar/226773 ^@ NM_053025.3(MYLK):c.62C>A (p.Pro21His) http://identifiers.org/clinvar/229178 ^@ NM_002880.3(RAF1):c.1927C>T (p.Pro643Ser) http://identifiers.org/clinvar/229176 ^@ NM_002880.3(RAF1):c.1708C>G (p.Leu570Val) http://identifiers.org/clinvar/227046 ^@ NM_002880.3(RAF1):c.1668+10_1668+11delTG http://identifiers.org/clinvar/227890 ^@ NM_002880.3(RAF1):c.990+9A>G http://identifiers.org/clinvar/228288 ^@ NM_002880.3(RAF1):c.775T>C (p.Ser259Pro) http://identifiers.org/clinvar/227889 ^@ NM_002880.3(RAF1):c.708C>T (p.His236=) http://identifiers.org/clinvar/229180 ^@ NM_002880.3(RAF1):c.512A>G (p.Lys171Arg) http://identifiers.org/clinvar/229179 ^@ NM_002880.3(RAF1):c.419A>G (p.Asn140Ser) http://identifiers.org/clinvar/227887 ^@ NM_002880.3(RAF1):c.276A>G (p.Gln92=) http://identifiers.org/clinvar/229177 ^@ NM_002880.3(RAF1):c.172A>C (p.Ile58Leu) http://identifiers.org/clinvar/227886 ^@ NM_002880.3(RAF1):c.171T>C (p.Thr57=) http://identifiers.org/clinvar/229175 ^@ NM_002880.3(RAF1):c.124_125delGCinsAT (p.Ala42Ile) http://identifiers.org/clinvar/227888 ^@ NM_002880.3(RAF1):c.63G>A (p.Val21=) http://identifiers.org/clinvar/228012 ^@ NM_024334.2(TMEM43):c.399C>T (p.Tyr133=) http://identifiers.org/clinvar/228013 ^@ NM_024334.2(TMEM43):c.402C>T (p.Thr134=) http://identifiers.org/clinvar/229321 ^@ NM_024334.2(TMEM43):c.583+3A>G http://identifiers.org/clinvar/227100 ^@ NM_024334.2(TMEM43):c.921G>A (p.Lys307=) http://identifiers.org/clinvar/227429 ^@ NM_032383.4(HPS3):c.51C>T (p.Pro17=) http://identifiers.org/clinvar/226655 ^@ NM_032383.4(HPS3):c.823G>A (p.Glu275Lys) http://identifiers.org/clinvar/226653 ^@ NM_032383.4(HPS3):c.2055G>A (p.Leu685=) http://identifiers.org/clinvar/226654 ^@ NM_032383.4(HPS3):c.2215G>A (p.Gly739Arg) http://identifiers.org/clinvar/228522 ^@ NM_001195794.1(CLRN1):c.472+5T>C http://identifiers.org/clinvar/226524 ^@ NM_001195794.1(CLRN1):c.472+4C>T http://identifiers.org/clinvar/228521 ^@ NM_001195794.1(CLRN1):c.434-2A>T http://identifiers.org/clinvar/227257 ^@ NM_001195794.1(CLRN1):c.226T>C (p.Leu76=) http://identifiers.org/clinvar/228476 ^@ NM_181426.1(CCDC39):c.2557C>T (p.Arg853Cys) http://identifiers.org/clinvar/226484 ^@ NM_181426.1(CCDC39):c.2278A>G (p.Thr760Ala) http://identifiers.org/clinvar/228473 ^@ NM_181426.1(CCDC39):c.2238A>T (p.Gln746His) http://identifiers.org/clinvar/228475 ^@ NM_181426.1(CCDC39):c.1874G>T (p.Ser625Ile) http://identifiers.org/clinvar/226483 ^@ NM_181426.1(CCDC39):c.1433A>G (p.Gln478Arg) http://identifiers.org/clinvar/226485 ^@ NM_181426.1(CCDC39):c.472C>G (p.Leu158Val) http://identifiers.org/clinvar/228478 ^@ NM_178335.2(CCDC50):c.546G>C (p.Glu182Asp) http://identifiers.org/clinvar/228479 ^@ NM_178335.2(CCDC50):c.617C>T (p.Ser206Phe) http://identifiers.org/clinvar/227213 ^@ NM_178335.2(CCDC50):c.804G>A (p.Gln268=) http://identifiers.org/clinvar/226496 ^@ NM_178335.2(CCDC50):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/227212 ^@ NM_178335.2(CCDC50):c.1276A>G (p.Lys426Glu) http://identifiers.org/clinvar/229236 ^@ NM_198056.2(SCN5A):c.6004G>A (p.Ala2002Thr) http://identifiers.org/clinvar/227933 ^@ NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) http://identifiers.org/clinvar/227932 ^@ NM_198056.2(SCN5A):c.5064C>T (p.Ile1688=) http://identifiers.org/clinvar/227931 ^@ NM_198056.2(SCN5A):c.4860G>A (p.Thr1620=) http://identifiers.org/clinvar/229235 ^@ NM_198056.2(SCN5A):c.4351G>C (p.Val1451Leu) http://identifiers.org/clinvar/229234 ^@ NM_198056.2(SCN5A):c.4299+6T>A http://identifiers.org/clinvar/229233 ^@ NM_198056.2(SCN5A):c.2999_3001delAGC (p.Gln1000del) http://identifiers.org/clinvar/227929 ^@ NM_198056.2(SCN5A):c.2313C>T (p.Leu771=) http://identifiers.org/clinvar/227928 ^@ NM_198056.2(SCN5A):c.2268C>T (p.Phe756=) http://identifiers.org/clinvar/227927 ^@ NM_198056.2(SCN5A):c.2103G>A (p.Pro701=) http://identifiers.org/clinvar/227926 ^@ NM_198056.2(SCN5A):c.1734C>T (p.Pro578=) http://identifiers.org/clinvar/229232 ^@ NM_198056.2(SCN5A):c.1237G>T (p.Ala413Ser) http://identifiers.org/clinvar/227925 ^@ NM_198056.2(SCN5A):c.1188C>T (p.Val396=) http://identifiers.org/clinvar/229231 ^@ NM_198056.2(SCN5A):c.1050C>G (p.His350Gln) http://identifiers.org/clinvar/229230 ^@ NM_198056.2(SCN5A):c.1045G>A (p.Asp349Asn) http://identifiers.org/clinvar/227057 ^@ NM_198056.2(SCN5A):c.1017C>T (p.Tyr339=) http://identifiers.org/clinvar/227934 ^@ NM_198056.2(SCN5A):c.567T>C (p.Leu189=) http://identifiers.org/clinvar/227930 ^@ NM_198056.2(SCN5A):c.456C>T (p.Asp152=) http://identifiers.org/clinvar/226688 ^@ NM_152393.3(KLHL40):c.1034A>G (p.Asn345Ser) http://identifiers.org/clinvar/226689 ^@ NM_152393.3(KLHL40):c.1849T>C (p.Cys617Arg) http://identifiers.org/clinvar/242407 ^@ NM_152393.3(KLHL40):c.1850G>A (p.Cys617Tyr) http://identifiers.org/clinvar/226702 ^@ NM_015340.3(LARS2):c.22T>C (p.Leu8=) http://identifiers.org/clinvar/226695 ^@ NM_015340.3(LARS2):c.157T>C (p.Leu53=) http://identifiers.org/clinvar/227492 ^@ NM_015340.3(LARS2):c.255C>T (p.Tyr85=) http://identifiers.org/clinvar/226706 ^@ NM_015340.3(LARS2):c.765G>A (p.Ala255=) http://identifiers.org/clinvar/227493 ^@ NM_015340.3(LARS2):c.945G>A (p.Ser315=) http://identifiers.org/clinvar/226707 ^@ NM_015340.3(LARS2):c.945G>C (p.Ser315=) http://identifiers.org/clinvar/226708 ^@ NM_015340.3(LARS2):c.972C>A (p.His324Gln) http://identifiers.org/clinvar/226691 ^@ NM_015340.3(LARS2):c.1053T>C (p.Leu351=) http://identifiers.org/clinvar/226692 ^@ NM_015340.3(LARS2):c.1131C>T (p.Pro377=) http://identifiers.org/clinvar/226693 ^@ NM_015340.3(LARS2):c.1455G>A (p.Ala485=) http://identifiers.org/clinvar/226694 ^@ NM_015340.3(LARS2):c.1552G>A (p.Asp518Asn) http://identifiers.org/clinvar/226696 ^@ NM_015340.3(LARS2):c.1692C>T (p.Ala564=) http://identifiers.org/clinvar/226697 ^@ NM_015340.3(LARS2):c.1760+12T>C http://identifiers.org/clinvar/227487 ^@ NM_015340.3(LARS2):c.1782G>T (p.Leu594=) http://identifiers.org/clinvar/226698 ^@ NM_015340.3(LARS2):c.1983G>A (p.Thr661=) http://identifiers.org/clinvar/227488 ^@ NM_015340.3(LARS2):c.2112G>A (p.Glu704=) http://identifiers.org/clinvar/226699 ^@ NM_015340.3(LARS2):c.2124T>C (p.Ser708=) http://identifiers.org/clinvar/226700 ^@ NM_015340.3(LARS2):c.2169T>C (p.Ala723=) http://identifiers.org/clinvar/226701 ^@ NM_015340.3(LARS2):c.2181G>T (p.Lys727Asn) http://identifiers.org/clinvar/227489 ^@ NM_015340.3(LARS2):c.2211T>C (p.Ser737=) http://identifiers.org/clinvar/227490 ^@ NM_015340.3(LARS2):c.2214+13C>G http://identifiers.org/clinvar/228789 ^@ NM_015340.3(LARS2):c.2278A>G (p.Ser760Gly) http://identifiers.org/clinvar/227491 ^@ NM_015340.3(LARS2):c.2292+8G>T http://identifiers.org/clinvar/226703 ^@ NM_015340.3(LARS2):c.2307C>T (p.Ser769=) http://identifiers.org/clinvar/226704 ^@ NM_015340.3(LARS2):c.2358A>G (p.Val786=) http://identifiers.org/clinvar/228790 ^@ NM_015340.3(LARS2):c.2404+4C>T http://identifiers.org/clinvar/226705 ^@ NM_015340.3(LARS2):c.2547T>C (p.Ala849=) http://identifiers.org/clinvar/228791 ^@ NM_015340.3(LARS2):c.2620G>A (p.Glu874Lys) http://identifiers.org/clinvar/228014 ^@ NM_147196.2(TMIE):c.219G>A (p.Thr73=) http://identifiers.org/clinvar/229316 ^@ NM_147196.2(TMIE):c.247C>T (p.Pro83Ser) http://identifiers.org/clinvar/227101 ^@ NM_147196.2(TMIE):c.385_393delAAGAAGAAG (p.Lys129_Lys131del) http://identifiers.org/clinvar/227623 ^@ NM_000258.2(MYL3):c.477G>T (p.Thr159=) http://identifiers.org/clinvar/228934 ^@ NM_000258.2(MYL3):c.452C>T (p.Ala151Val) http://identifiers.org/clinvar/227622 ^@ NM_000258.2(MYL3):c.420C>T (p.Phe140=) http://identifiers.org/clinvar/227621 ^@ NM_000258.2(MYL3):c.307+15C>T http://identifiers.org/clinvar/228936 ^@ NM_000258.2(MYL3):c.92G>A (p.Arg31His) http://identifiers.org/clinvar/228935 ^@ NM_000258.2(MYL3):c.82G>A (p.Glu28Lys) http://identifiers.org/clinvar/226558 ^@ NM_001165928.3(DAG1):c.41G= (p.Trp14=) http://identifiers.org/clinvar/226557 ^@ NM_001165928.3(DAG1):c.2231G>C (p.Ser744Thr) http://identifiers.org/clinvar/229326 ^@ NM_003280.2(TNNC1):c.454+6C>G http://identifiers.org/clinvar/228016 ^@ NM_003280.2(TNNC1):c.435C>T (p.Asp145=) http://identifiers.org/clinvar/228015 ^@ NM_003280.2(TNNC1):c.24+13G>T http://identifiers.org/clinvar/226469 ^@ NM_000720.3(CACNA1D):c.264C>T (p.Tyr88=) http://identifiers.org/clinvar/227201 ^@ NM_000720.3(CACNA1D):c.450T>C (p.Pro150=) http://identifiers.org/clinvar/226480 ^@ NM_000720.3(CACNA1D):c.927A>G (p.Val309=) http://identifiers.org/clinvar/226481 ^@ NM_000720.3(CACNA1D):c.954G>A (p.Ala318=) http://identifiers.org/clinvar/226468 ^@ NM_000720.3(CACNA1D):c.1220+10C>T http://identifiers.org/clinvar/226467 ^@ NM_000720.3(CACNA1D):c.1104T>C (p.Asp368=) http://identifiers.org/clinvar/228464 ^@ NM_000720.3(CACNA1D):c.1351G>C (p.Glu451Gln) http://identifiers.org/clinvar/227195 ^@ NM_000720.3(CACNA1D):c.2016G>T (p.Ser672=) http://identifiers.org/clinvar/227196 ^@ NM_000720.3(CACNA1D):c.2337A>G (p.Glu779=) http://identifiers.org/clinvar/227197 ^@ NM_000720.3(CACNA1D):c.2612T>G (p.Leu871Trp) http://identifiers.org/clinvar/226470 ^@ NM_000720.3(CACNA1D):c.2760C>T (p.Ser920=) http://identifiers.org/clinvar/226471 ^@ NM_000720.3(CACNA1D):c.2913C>T (p.Cys971=) http://identifiers.org/clinvar/227198 ^@ NM_000720.3(CACNA1D):c.3228-6C>G http://identifiers.org/clinvar/226472 ^@ NM_000720.3(CACNA1D):c.3339G>A (p.Ala1113=) http://identifiers.org/clinvar/227200 ^@ NM_000720.3(CACNA1D):c.3421A>G (p.Ile1141Val) http://identifiers.org/clinvar/228465 ^@ NM_000720.3(CACNA1D):c.3881C>T (p.Ser1294Phe) http://identifiers.org/clinvar/226473 ^@ NM_000720.3(CACNA1D):c.3930+13C>G http://identifiers.org/clinvar/226474 ^@ NM_000720.3(CACNA1D):c.3952C>T (p.Pro1318Ser) http://identifiers.org/clinvar/226475 ^@ NM_000720.3(CACNA1D):c.4014C>T (p.Phe1338=) http://identifiers.org/clinvar/227199 ^@ NM_000720.3(CACNA1D):c.5037G>A (p.Ser1679=) http://identifiers.org/clinvar/226476 ^@ NM_000720.3(CACNA1D):c.5315C>T (p.Thr1772Ile) http://identifiers.org/clinvar/227202 ^@ NM_000720.3(CACNA1D):c.5556C>T (p.Gly1852=) http://identifiers.org/clinvar/227203 ^@ NM_000720.3(CACNA1D):c.5703C>T (p.Pro1901=) http://identifiers.org/clinvar/227204 ^@ NM_000720.3(CACNA1D):c.5827_5829delTTC (p.Phe1943del) http://identifiers.org/clinvar/227205 ^@ NM_000720.3(CACNA1D):c.5874G>T (p.Pro1958=) http://identifiers.org/clinvar/227206 ^@ NM_000720.3(CACNA1D):c.6000G>C (p.Ser2000=) http://identifiers.org/clinvar/228466 ^@ NM_000720.3(CACNA1D):c.6104G>C (p.Ser2035Thr) http://identifiers.org/clinvar/228462 ^@ NM_000720.3(CACNA1D):c.6110C>T (p.Pro2037Leu) http://identifiers.org/clinvar/226477 ^@ NM_000720.3(CACNA1D):c.6111G>A (p.Pro2037=) http://identifiers.org/clinvar/227207 ^@ NM_000720.3(CACNA1D):c.6222G>A (p.Lys2074=) http://identifiers.org/clinvar/227208 ^@ NM_000720.3(CACNA1D):c.6264C>T (p.Ser2088=) http://identifiers.org/clinvar/226478 ^@ NM_000720.3(CACNA1D):c.6408C>T (p.Asn2136=) http://identifiers.org/clinvar/226479 ^@ NM_000720.3(CACNA1D):c.6497G>A (p.Arg2166Lys) http://identifiers.org/clinvar/228854 ^@ NM_006722.2(MITF):c.86G>A (p.Cys29Tyr) http://identifiers.org/clinvar/227547 ^@ NM_198177.2(MITF):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/228855 ^@ NM_198159.2(MITF):c.329C>T (p.Thr110Met) http://identifiers.org/clinvar/226727 ^@ NM_198159.2(MITF):c.330G>A (p.Thr110=) http://identifiers.org/clinvar/228856 ^@ NM_000248.3(MITF):c.34-8A>G http://identifiers.org/clinvar/226728 ^@ NM_000248.3(MITF):c.45C>T (p.His15=) http://identifiers.org/clinvar/227546 ^@ NM_000248.3(MITF):c.302A>G (p.Glu101Gly) http://identifiers.org/clinvar/228857 ^@ NM_000248.3(MITF):c.346-3C>T http://identifiers.org/clinvar/228364 ^@ NM_000248.3(MITF):c.383C>G (p.Ser128Ter) http://identifiers.org/clinvar/226729 ^@ NM_000248.3(MITF):c.559+9C>G http://identifiers.org/clinvar/228853 ^@ NM_000248.3(MITF):c.560-9C>G http://identifiers.org/clinvar/228362 ^@ NM_000248.3(MITF):c.722G>A (p.Trp241Ter) http://identifiers.org/clinvar/228363 ^@ NM_000248.3(MITF):c.808C>T (p.Arg270Ter) http://identifiers.org/clinvar/227545 ^@ NM_000248.3(MITF):c.861A>G (p.Glu287=) http://identifiers.org/clinvar/226725 ^@ NM_000248.3(MITF):c.1060C>A (p.Leu354Ile) http://identifiers.org/clinvar/226726 ^@ NM_000248.3(MITF):c.1245G>A (p.Thr415=) http://identifiers.org/clinvar/227711 ^@ NM_016599.4(MYOZ2):c.39G>A (p.Gln13=) http://identifiers.org/clinvar/227709 ^@ NM_016599.4(MYOZ2):c.245A>C (p.Asn82Thr) http://identifiers.org/clinvar/227710 ^@ NM_016599.4(MYOZ2):c.303G>A (p.Ser101=) http://identifiers.org/clinvar/229031 ^@ NM_016599.4(MYOZ2):c.311C>T (p.Ala104Val) http://identifiers.org/clinvar/227712 ^@ NM_016599.4(MYOZ2):c.504T>C (p.Pro168=) http://identifiers.org/clinvar/229032 ^@ NM_016599.4(MYOZ2):c.649C>A (p.Pro217Thr) http://identifiers.org/clinvar/226630 ^@ NM_153702.3(ELMOD2):c.428A>C (p.Lys143Thr) http://identifiers.org/clinvar/226629 ^@ NM_153702.3(ELMOD2):c.*9C>T http://identifiers.org/clinvar/227013 ^@ NM_014476.5(PDLIM3):c.993C>A (p.Gly331=) http://identifiers.org/clinvar/227843 ^@ NM_014476.5(PDLIM3):c.567G>A (p.Gln189=) http://identifiers.org/clinvar/229141 ^@ NM_014476.5(PDLIM3):c.399-10A>G http://identifiers.org/clinvar/227012 ^@ NM_014476.5(PDLIM3):c.331-354G>A http://identifiers.org/clinvar/227844 ^@ NM_014476.5(PDLIM3):c.195G>A (p.Ala65=) http://identifiers.org/clinvar/229140 ^@ NM_014476.5(PDLIM3):c.169A>G (p.Thr57Ala) http://identifiers.org/clinvar/227016 ^@ NM_003924.3(PHOX2B):c.741_758del18 (p.Ala255_Ala260del) http://identifiers.org/clinvar/227845 ^@ NM_003924.3(PHOX2B):c.726A>G (p.Ala242=) http://identifiers.org/clinvar/227015 ^@ NM_003924.3(PHOX2B):c.552C>T (p.Ser184=) http://identifiers.org/clinvar/227014 ^@ NM_003924.3(PHOX2B):c.450C>G (p.Arg150=) http://identifiers.org/clinvar/227422 ^@ NM_001080476.2(GRXCR1):c.75T>C (p.Ser25=) http://identifiers.org/clinvar/227420 ^@ NM_001080476.2(GRXCR1):c.627+8A>T http://identifiers.org/clinvar/227421 ^@ NM_001080476.2(GRXCR1):c.747A>G (p.Pro249=) http://identifiers.org/clinvar/228734 ^@ NM_001080476.2(GRXCR1):c.785G>A (p.Arg262Gln) http://identifiers.org/clinvar/228390 ^@ NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) http://identifiers.org/clinvar/227152 ^@ NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) http://identifiers.org/clinvar/228239 ^@ NM_006005.3(WFS1):c.375C>T (p.Thr125=) http://identifiers.org/clinvar/229647 ^@ NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/227153 ^@ NM_006005.3(WFS1):c.631+12C>T http://identifiers.org/clinvar/229648 ^@ NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) http://identifiers.org/clinvar/228240 ^@ NM_006005.3(WFS1):c.996C>T (p.Ile332=) http://identifiers.org/clinvar/229633 ^@ NM_006005.3(WFS1):c.1020C>G (p.Phe340Leu) http://identifiers.org/clinvar/229634 ^@ NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) http://identifiers.org/clinvar/229635 ^@ NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) http://identifiers.org/clinvar/228420 ^@ NM_006005.3(WFS1):c.1060_1062delTTC (p.Phe354del) http://identifiers.org/clinvar/228232 ^@ NM_006005.3(WFS1):c.1194C>A (p.Gly398=) http://identifiers.org/clinvar/228233 ^@ NM_006005.3(WFS1):c.1290G>A (p.Ser430=) http://identifiers.org/clinvar/229636 ^@ NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile) http://identifiers.org/clinvar/227150 ^@ NM_006005.3(WFS1):c.1395C>T (p.Ala465=) http://identifiers.org/clinvar/228234 ^@ NM_006005.3(WFS1):c.1399C>T (p.Leu467=) http://identifiers.org/clinvar/228235 ^@ NM_006005.3(WFS1):c.1479C>T (p.Val493=) http://identifiers.org/clinvar/229637 ^@ NM_006005.3(WFS1):c.1552A>G (p.Met518Val) http://identifiers.org/clinvar/229638 ^@ NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) http://identifiers.org/clinvar/229639 ^@ NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) http://identifiers.org/clinvar/228236 ^@ NM_006005.3(WFS1):c.2250C>T (p.Ala750=) http://identifiers.org/clinvar/229640 ^@ NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) http://identifiers.org/clinvar/228237 ^@ NM_006005.3(WFS1):c.2355C>T (p.Ser785=) http://identifiers.org/clinvar/229641 ^@ NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) http://identifiers.org/clinvar/227151 ^@ NM_006005.3(WFS1):c.2370G>A (p.Ser790=) http://identifiers.org/clinvar/229642 ^@ NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) http://identifiers.org/clinvar/229643 ^@ NM_006005.3(WFS1):c.2407G>A (p.Val803Met) http://identifiers.org/clinvar/228313 ^@ NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) http://identifiers.org/clinvar/229644 ^@ NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) http://identifiers.org/clinvar/228238 ^@ NM_006005.3(WFS1):c.2575C>A (p.Arg859=) http://identifiers.org/clinvar/229645 ^@ NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr) http://identifiers.org/clinvar/229646 ^@ NM_006005.3(WFS1):c.2638G>C (p.Asp880His) http://identifiers.org/clinvar/228702 ^@ NM_032119.3(ADGRV1):c.(?_17020)-19_(17856_?)+58dup http://identifiers.org/clinvar/227431 ^@ NM_000414.3(HSD17B4):c.56C>G (p.Ala19Gly) http://identifiers.org/clinvar/227436 ^@ NM_000414.3(HSD17B4):c.58+195C>T http://identifiers.org/clinvar/227433 ^@ NM_001199291.2(HSD17B4):c.147T>C (p.Pro49=) http://identifiers.org/clinvar/226672 ^@ NM_000414.3(HSD17B4):c.420A>T (p.Lys140Asn) http://identifiers.org/clinvar/227437 ^@ NM_000414.3(HSD17B4):c.622+15T>A http://identifiers.org/clinvar/228743 ^@ NM_000414.3(HSD17B4):c.643C>T (p.Pro215Ser) http://identifiers.org/clinvar/226673 ^@ NM_000414.3(HSD17B4):c.715-13C>T http://identifiers.org/clinvar/226674 ^@ NM_000414.3(HSD17B4):c.875C>G (p.Thr292Ser) http://identifiers.org/clinvar/228741 ^@ NM_000414.3(HSD17B4):c.950C>T (p.Thr317Met) http://identifiers.org/clinvar/226664 ^@ NM_000414.3(HSD17B4):c.1059G>A (p.Ala353=) http://identifiers.org/clinvar/227432 ^@ NM_000414.3(HSD17B4):c.1210-8T>C http://identifiers.org/clinvar/227434 ^@ NM_000414.3(HSD17B4):c.1450A>G (p.Ile484Val) http://identifiers.org/clinvar/228742 ^@ NM_000414.3(HSD17B4):c.1452A>G (p.Ile484Met) http://identifiers.org/clinvar/226665 ^@ NM_000414.3(HSD17B4):c.1531T>C (p.Trp511Arg) http://identifiers.org/clinvar/226666 ^@ NM_000414.3(HSD17B4):c.1566T>A (p.Ser522Arg) http://identifiers.org/clinvar/226667 ^@ NM_000414.3(HSD17B4):c.1675A>G (p.Ile559Val) http://identifiers.org/clinvar/226668 ^@ NM_000414.3(HSD17B4):c.1791C>T (p.Val597=) http://identifiers.org/clinvar/226669 ^@ NM_000414.3(HSD17B4):c.2060C>T (p.Thr687Ile) http://identifiers.org/clinvar/227435 ^@ NM_000414.3(HSD17B4):c.2121+7T>C http://identifiers.org/clinvar/226670 ^@ NM_000414.3(HSD17B4):c.2182A>G (p.Met728Val) http://identifiers.org/clinvar/226671 ^@ NM_000414.3(HSD17B4):c.2199C>T (p.Tyr733=) http://identifiers.org/clinvar/226663 ^@ NM_000414.3(HSD17B4):c.*6A>G http://identifiers.org/clinvar/228806 ^@ NM_002317.6(LOX):c.893T>G (p.Met298Arg) http://identifiers.org/clinvar/228006 ^@ NM_198253.2(TERT):c.2793C>T (p.Cys931=) http://identifiers.org/clinvar/227098 ^@ NM_198253.2(TERT):c.2658C>A (p.Thr886=) http://identifiers.org/clinvar/229310 ^@ NM_198253.2(TERT):c.2575C>T (p.Arg859Trp) http://identifiers.org/clinvar/227096 ^@ NM_198253.2(TERT):c.2031C>T (p.Gly677=) http://identifiers.org/clinvar/227097 ^@ NM_198253.2(TERT):c.1950+10C>T http://identifiers.org/clinvar/228005 ^@ NM_198253.2(TERT):c.1574-7G>A http://identifiers.org/clinvar/228007 ^@ NM_198253.2(TERT):c.834C>A (p.Pro278=) http://identifiers.org/clinvar/226595 ^@ NM_001369.2(DNAH5):c.13462C>A (p.Pro4488Thr) http://identifiers.org/clinvar/226593 ^@ NM_001369.2(DNAH5):c.13071C>T (p.Ala4357=) http://identifiers.org/clinvar/226592 ^@ NM_001369.2(DNAH5):c.12708T>C (p.Gly4236=) http://identifiers.org/clinvar/228608 ^@ NM_001369.2(DNAH5):c.12209C>T (p.Thr4070Ile) http://identifiers.org/clinvar/226591 ^@ NM_001369.2(DNAH5):c.12033+7A>G http://identifiers.org/clinvar/228607 ^@ NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) http://identifiers.org/clinvar/228606 ^@ NM_001369.2(DNAH5):c.11437C>T (p.Arg3813Trp) http://identifiers.org/clinvar/227322 ^@ NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) http://identifiers.org/clinvar/227321 ^@ NM_001369.2(DNAH5):c.10294G>T (p.Val3432Leu) http://identifiers.org/clinvar/226607 ^@ NM_001369.2(DNAH5):c.9522G>A (p.Thr3174=) http://identifiers.org/clinvar/228609 ^@ NM_001369.2(DNAH5):c.8840C>T (p.Thr2947Ile) http://identifiers.org/clinvar/226606 ^@ NM_001369.2(DNAH5):c.7274G>A (p.Arg2425His) http://identifiers.org/clinvar/227328 ^@ NM_001369.2(DNAH5):c.7212T>C (p.Asp2404=) http://identifiers.org/clinvar/226605 ^@ NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) http://identifiers.org/clinvar/226604 ^@ NM_001369.2(DNAH5):c.6579+6A>G http://identifiers.org/clinvar/226603 ^@ NM_001369.2(DNAH5):c.6444+8A>G http://identifiers.org/clinvar/228598 ^@ NM_001369.2(DNAH5):c.6305G>A (p.Arg2102His) http://identifiers.org/clinvar/228251 ^@ NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) http://identifiers.org/clinvar/226602 ^@ NM_001369.2(DNAH5):c.5707C>T (p.Leu1903=) http://identifiers.org/clinvar/226601 ^@ NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) http://identifiers.org/clinvar/227327 ^@ NM_001369.2(DNAH5):c.5266G>A (p.Glu1756Lys) http://identifiers.org/clinvar/226600 ^@ NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) http://identifiers.org/clinvar/226599 ^@ NM_001369.2(DNAH5):c.5115-4G>T http://identifiers.org/clinvar/226598 ^@ NM_001369.2(DNAH5):c.4796+11C>A http://identifiers.org/clinvar/227326 ^@ NM_001369.2(DNAH5):c.4687G>A (p.Gly1563Ser) http://identifiers.org/clinvar/227325 ^@ NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) http://identifiers.org/clinvar/227324 ^@ NM_001369.2(DNAH5):c.3534C>T (p.Asn1178=) http://identifiers.org/clinvar/226597 ^@ NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) http://identifiers.org/clinvar/226596 ^@ NM_001369.2(DNAH5):c.1772T>G (p.Leu591Arg) http://identifiers.org/clinvar/226594 ^@ NM_001369.2(DNAH5):c.1395C>T (p.Ser465=) http://identifiers.org/clinvar/227323 ^@ NM_001369.2(DNAH5):c.1321-15T>C http://identifiers.org/clinvar/226650 ^@ NM_002109.5(HARS):c.1458+7G>A http://identifiers.org/clinvar/227423 ^@ NM_002109.5(HARS):c.1312-8C>T http://identifiers.org/clinvar/226652 ^@ NM_002109.5(HARS):c.614G>A (p.Gly205Asp) http://identifiers.org/clinvar/226651 ^@ NM_002109.5(HARS):c.588C>T (p.Cys196=) http://identifiers.org/clinvar/228737 ^@ NM_012208.3(HARS2):c.-4C>G http://identifiers.org/clinvar/228735 ^@ NM_012208.3(HARS2):c.145C>T (p.His49Tyr) http://identifiers.org/clinvar/228736 ^@ NM_012208.3(HARS2):c.168_170delTAT (p.Ile57del) http://identifiers.org/clinvar/228739 ^@ NM_012208.3(HARS2):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/227424 ^@ NM_012208.3(HARS2):c.1077T>G (p.Ala359=) http://identifiers.org/clinvar/227425 ^@ NM_012208.3(HARS2):c.1224A>G (p.Thr408=) http://identifiers.org/clinvar/227426 ^@ NM_012208.3(HARS2):c.1439G>T (p.Arg480Leu) http://identifiers.org/clinvar/228573 ^@ NM_005219.4(DIAPH1):c.3704C>G (p.Ser1235Trp) http://identifiers.org/clinvar/228577 ^@ NM_005219.4(DIAPH1):c.3637C>T (p.Arg1213Ter) http://identifiers.org/clinvar/228576 ^@ NM_005219.4(DIAPH1):c.3526C>T (p.Arg1176Trp) http://identifiers.org/clinvar/226565 ^@ NM_005219.4(DIAPH1):c.3227T>G (p.Phe1076Cys) http://identifiers.org/clinvar/227304 ^@ NM_005219.4(DIAPH1):c.2889A>G (p.Ala963=) http://identifiers.org/clinvar/227303 ^@ NM_005219.4(DIAPH1):c.2373C>T (p.Asp791=) http://identifiers.org/clinvar/227302 ^@ NM_005219.4(DIAPH1):c.2358+15C>G http://identifiers.org/clinvar/228575 ^@ NM_005219.4(DIAPH1):c.2107C>G (p.Pro703Ala) http://identifiers.org/clinvar/227301 ^@ NM_005219.4(DIAPH1):c.2067A>C (p.Pro689=) http://identifiers.org/clinvar/226563 ^@ NM_005219.4(DIAPH1):c.1851_1853delTCC (p.Pro620del) http://identifiers.org/clinvar/226564 ^@ NM_005219.4(DIAPH1):c.1851_1853dupTCC (p.Pro620_Leu621insPro) http://identifiers.org/clinvar/227300 ^@ NM_005219.4(DIAPH1):c.1769G>T (p.Gly590Val) http://identifiers.org/clinvar/228578 ^@ NM_005219.4(DIAPH1):c.685-5A>G http://identifiers.org/clinvar/229154 ^@ NM_002700.2(POU4F3):c.709T>G (p.Ser237Ala) http://identifiers.org/clinvar/227856 ^@ NM_002700.2(POU4F3):c.792C>T (p.Ser264=) http://identifiers.org/clinvar/229249 ^@ NM_000337.5(SGCD):c.506C>T (p.Ala169Val) http://identifiers.org/clinvar/229250 ^@ NM_000337.5(SGCD):c.697G>A (p.Glu233Lys) http://identifiers.org/clinvar/229066 ^@ NM_004387.3(NKX2-5):c.335-3C>G http://identifiers.org/clinvar/227376 ^@ NM_000514.3(GDNF):c.222A>G (p.Arg74=) http://identifiers.org/clinvar/227542 ^@ NM_001038603.2(MARVELD2):c.156A>T (p.Pro52=) http://identifiers.org/clinvar/227543 ^@ NM_001038603.2(MARVELD2):c.306G>A (p.Pro102=) http://identifiers.org/clinvar/227544 ^@ NM_001038603.2(MARVELD2):c.771C>T (p.Leu257=) http://identifiers.org/clinvar/228852 ^@ NM_001038603.2(MARVELD2):c.868C>T (p.Pro290Ser) http://identifiers.org/clinvar/228851 ^@ NM_001038603.2(MARVELD2):c.1006C>T (p.Arg336Trp) http://identifiers.org/clinvar/228359 ^@ NM_001038603.2(MARVELD2):c.1331+1G>A http://identifiers.org/clinvar/227541 ^@ NM_001038603.2(MARVELD2):c.1479G>A (p.Leu493=) http://identifiers.org/clinvar/228850 ^@ NM_001038603.2(MARVELD2):c.*1C>T http://identifiers.org/clinvar/226459 ^@ NM_003664.4(AP3B1):c.3023_3025delCTG (p.Ala1008del) http://identifiers.org/clinvar/228441 ^@ NM_003664.4(AP3B1):c.2572A>G (p.Ile858Val) http://identifiers.org/clinvar/228440 ^@ NM_003664.4(AP3B1):c.1814C>A (p.Pro605Gln) http://identifiers.org/clinvar/226461 ^@ NM_003664.4(AP3B1):c.687A>G (p.Leu229=) http://identifiers.org/clinvar/226460 ^@ NM_003664.4(AP3B1):c.339A>C (p.Ala113=) http://identifiers.org/clinvar/228719 ^@ NM_032119.3(ADGRV1):c.-26_-9del18 http://identifiers.org/clinvar/227403 ^@ NM_032119.3(ADGRV1):c.222C>T (p.Asp74=) http://identifiers.org/clinvar/228720 ^@ NM_032119.3(ADGRV1):c.305A>G (p.Asp102Gly) http://identifiers.org/clinvar/228717 ^@ NM_032119.3(ADGRV1):c.328G>A (p.Glu110Lys) http://identifiers.org/clinvar/227406 ^@ NM_032119.3(ADGRV1):c.466G>A (p.Ala156Thr) http://identifiers.org/clinvar/227410 ^@ NM_032119.3(ADGRV1):c.640G>A (p.Val214Ile) http://identifiers.org/clinvar/227388 ^@ NM_032119.3(ADGRV1):c.1033C>A (p.Gln345Lys) http://identifiers.org/clinvar/227389 ^@ NM_032119.3(ADGRV1):c.1056G>A (p.Pro352=) http://identifiers.org/clinvar/228352 ^@ NM_032119.3(ADGRV1):c.1701delC (p.Leu568Cysfs) http://identifiers.org/clinvar/228718 ^@ NM_032119.3(ADGRV1):c.1799A>G (p.Asn600Ser) http://identifiers.org/clinvar/227402 ^@ NM_032119.3(ADGRV1):c.2023A>C (p.Ile675Leu) http://identifiers.org/clinvar/227404 ^@ NM_032119.3(ADGRV1):c.2459A>G (p.Asn820Ser) http://identifiers.org/clinvar/226647 ^@ NM_032119.3(ADGRV1):c.3295A>G (p.Thr1099Ala) http://identifiers.org/clinvar/228721 ^@ NM_032119.3(ADGRV1):c.3370G>A (p.Glu1124Lys) http://identifiers.org/clinvar/227405 ^@ NM_032119.3(ADGRV1):c.3816G>A (p.Leu1272=) http://identifiers.org/clinvar/226648 ^@ NM_032119.3(ADGRV1):c.4864T>C (p.Tyr1622His) http://identifiers.org/clinvar/227407 ^@ NM_032119.3(ADGRV1):c.5072C>T (p.Thr1691Met) http://identifiers.org/clinvar/228722 ^@ NM_032119.3(ADGRV1):c.5102A>G (p.His1701Arg) http://identifiers.org/clinvar/227408 ^@ NM_032119.3(ADGRV1):c.5337T>C (p.Phe1779=) http://identifiers.org/clinvar/227409 ^@ NM_032119.3(ADGRV1):c.5460G>A (p.Arg1820=) http://identifiers.org/clinvar/228353 ^@ NM_032119.3(ADGRV1):c.7129C>T (p.Arg2377Ter) http://identifiers.org/clinvar/227411 ^@ NM_032119.3(ADGRV1):c.7176C>G (p.Ser2392=) http://identifiers.org/clinvar/228724 ^@ NM_032119.3(ADGRV1):c.7748A>G (p.Tyr2583Cys) http://identifiers.org/clinvar/228723 ^@ NM_032119.3(ADGRV1):c.7571T>A (p.Val2524Glu) http://identifiers.org/clinvar/227412 ^@ NM_032119.3(ADGRV1):c.8204A>G (p.Asn2735Ser) http://identifiers.org/clinvar/228725 ^@ NM_032119.3(ADGRV1):c.8585A>G (p.Tyr2862Cys) http://identifiers.org/clinvar/228726 ^@ NM_032119.3(ADGRV1):c.8779G>A (p.Val2927Ile) http://identifiers.org/clinvar/228727 ^@ NM_032119.3(ADGRV1):c.8995C>G (p.Gln2999Glu) http://identifiers.org/clinvar/228728 ^@ NM_032119.3(ADGRV1):c.9034A>G (p.Thr3012Ala) http://identifiers.org/clinvar/227413 ^@ NM_032119.3(ADGRV1):c.9181A>G (p.Ile3061Val) http://identifiers.org/clinvar/228703 ^@ NM_032119.3(ADGRV1):c.10466G>A (p.Gly3489Glu) http://identifiers.org/clinvar/228704 ^@ NM_032119.3(ADGRV1):c.11411G>A (p.Arg3804Gln) http://identifiers.org/clinvar/228705 ^@ NM_032119.3(ADGRV1):c.11579C>T (p.Pro3860Leu) http://identifiers.org/clinvar/228265 ^@ NM_032119.3(ADGRV1):c.12101T>G (p.Phe4034Cys) http://identifiers.org/clinvar/228706 ^@ NM_032119.3(ADGRV1):c.12128T>C (p.Ile4043Thr) http://identifiers.org/clinvar/228707 ^@ NM_032119.3(ADGRV1):c.12283G>A (p.Glu4095Lys) http://identifiers.org/clinvar/227390 ^@ NM_032119.3(ADGRV1):c.12350G>A (p.Arg4117His) http://identifiers.org/clinvar/227391 ^@ NM_032119.3(ADGRV1):c.12654T>C (p.Ile4218=) http://identifiers.org/clinvar/228709 ^@ NM_032119.3(ADGRV1):c.12869G>A (p.Arg4290His) http://identifiers.org/clinvar/228708 ^@ NM_032119.3(ADGRV1):c.13201G>A (p.Glu4401Lys) http://identifiers.org/clinvar/228710 ^@ NM_032119.3(ADGRV1):c.13712A>G (p.Asp4571Gly) http://identifiers.org/clinvar/227392 ^@ NM_032119.3(ADGRV1):c.14185G>A (p.Asp4729Asn) http://identifiers.org/clinvar/228711 ^@ NM_032119.3(ADGRV1):c.14303C>T (p.Ser4768Leu) http://identifiers.org/clinvar/227393 ^@ NM_032119.3(ADGRV1):c.14373T>A (p.Ala4791=) http://identifiers.org/clinvar/228712 ^@ NM_032119.3(ADGRV1):c.14432C>A (p.Pro4811Gln) http://identifiers.org/clinvar/227394 ^@ NM_032119.3(ADGRV1):c.14432C>T (p.Pro4811Leu) http://identifiers.org/clinvar/226644 ^@ NM_032119.3(ADGRV1):c.14466G>A (p.Val4822=) http://identifiers.org/clinvar/228351 ^@ NM_032119.3(ADGRV1):c.14885G>A (p.Trp4962Ter) http://identifiers.org/clinvar/227395 ^@ NM_032119.3(ADGRV1):c.15240T>C (p.Asn5080=) http://identifiers.org/clinvar/228713 ^@ NM_032119.3(ADGRV1):c.16079-11C>G http://identifiers.org/clinvar/227396 ^@ NM_032119.3(ADGRV1):c.16098C>T (p.Gly5366=) http://identifiers.org/clinvar/227397 ^@ NM_032119.3(ADGRV1):c.16258C>A (p.Gln5420Lys) http://identifiers.org/clinvar/228714 ^@ NM_032119.3(ADGRV1):c.16439G>A (p.Ser5480Asn) http://identifiers.org/clinvar/228715 ^@ NM_032119.3(ADGRV1):c.16640G>A (p.Arg5547His) http://identifiers.org/clinvar/226645 ^@ NM_032119.3(ADGRV1):c.16949C>G (p.Thr5650Ser) http://identifiers.org/clinvar/227398 ^@ NM_032119.3(ADGRV1):c.17204+7A>G http://identifiers.org/clinvar/228716 ^@ NM_032119.3(ADGRV1):c.17205-10T>G http://identifiers.org/clinvar/227399 ^@ NM_032119.3(ADGRV1):c.17856+10C>T http://identifiers.org/clinvar/227400 ^@ NM_032119.3(ADGRV1):c.18195T>C (p.Ala6065=) http://identifiers.org/clinvar/227401 ^@ NM_032119.3(ADGRV1):c.18621G>A (p.Glu6207=) http://identifiers.org/clinvar/226646 ^@ NM_032119.3(ADGRV1):c.18803-4G>T http://identifiers.org/clinvar/228634 ^@ NM_004415.3(DSP):c.(?_8488)_*(111_?)dup http://identifiers.org/clinvar/229204 ^@ NM_001010892.2(RSPH4A):c.1121G>A (p.Arg374His) http://identifiers.org/clinvar/227901 ^@ NM_001010892.2(RSPH4A):c.1662+15C>T http://identifiers.org/clinvar/227902 ^@ NM_001010892.2(RSPH4A):c.1734C>T (p.Asp578=) http://identifiers.org/clinvar/227054 ^@ NM_001010892.2(RSPH4A):c.1798+11G>A http://identifiers.org/clinvar/227903 ^@ NM_001010892.2(RSPH4A):c.1974A>G (p.Thr658=) http://identifiers.org/clinvar/227055 ^@ NM_001010892.2(RSPH4A):c.2099C>T (p.Ala700Val) http://identifiers.org/clinvar/227053 ^@ NM_001010892.2(RSPH4A):c.*8A>G http://identifiers.org/clinvar/229152 ^@ NM_002667.4(PLN):c.14A>G (p.Gln5Arg) http://identifiers.org/clinvar/229153 ^@ NM_002667.4(PLN):c.67C>G (p.Gln23Glu) http://identifiers.org/clinvar/229342 ^@ NM_006073.3(TRDN):c.2126C>A (p.Ala709Glu) http://identifiers.org/clinvar/227117 ^@ NM_006073.3(TRDN):c.1871-15G>A http://identifiers.org/clinvar/229350 ^@ NM_006073.3(TRDN):c.1801C>G (p.Pro601Ala) http://identifiers.org/clinvar/227116 ^@ NM_006073.3(TRDN):c.1721-4A>G http://identifiers.org/clinvar/227115 ^@ NM_006073.3(TRDN):c.1620A>G (p.Ile540Met) http://identifiers.org/clinvar/227114 ^@ NM_006073.3(TRDN):c.1598-3dupT http://identifiers.org/clinvar/228026 ^@ NM_006073.3(TRDN):c.1597+10G>A http://identifiers.org/clinvar/227113 ^@ NM_006073.3(TRDN):c.1538-13T>G http://identifiers.org/clinvar/229349 ^@ NM_006073.3(TRDN):c.1472-12G>A http://identifiers.org/clinvar/227112 ^@ NM_006073.3(TRDN):c.1408C>A (p.Leu470Met) http://identifiers.org/clinvar/227111 ^@ NM_006073.3(TRDN):c.1370-11C>A http://identifiers.org/clinvar/229346 ^@ NM_001251987.1(TRDN):c.1383dupA (p.Ter462Metfs) http://identifiers.org/clinvar/229345 ^@ NM_006073.3(TRDN):c.1367A>G (p.Gln456Arg) http://identifiers.org/clinvar/227110 ^@ NM_006073.3(TRDN):c.1313T>G (p.Ile438Ser) http://identifiers.org/clinvar/227109 ^@ NM_006073.3(TRDN):c.1313T>A (p.Ile438Asn) http://identifiers.org/clinvar/227108 ^@ NM_006073.3(TRDN):c.1257C>A (p.Asp419Glu) http://identifiers.org/clinvar/227107 ^@ NM_006073.3(TRDN):c.1211T>G (p.Val404Gly) http://identifiers.org/clinvar/229347 ^@ NM_006073.3(TRDN):c.1193A>T (p.Glu398Val) http://identifiers.org/clinvar/227106 ^@ NM_006073.3(TRDN):c.1188A>G (p.Lys396=) http://identifiers.org/clinvar/227105 ^@ NM_006073.3(TRDN):c.1105+5G>A http://identifiers.org/clinvar/227104 ^@ NM_006073.3(TRDN):c.1096G>A (p.Ala366Thr) http://identifiers.org/clinvar/227102 ^@ NM_006073.3(TRDN):c.1016G>A (p.Ser339Asn) http://identifiers.org/clinvar/227124 ^@ NM_006073.3(TRDN):c.932-4C>G http://identifiers.org/clinvar/227103 ^@ NM_001256020.1(TRDN):c.889delT (p.Ser297Leufs) http://identifiers.org/clinvar/229351 ^@ NM_006073.3(TRDN):c.604_610+47del54 http://identifiers.org/clinvar/227123 ^@ NM_006073.3(TRDN):c.601C>G (p.Leu201Val) http://identifiers.org/clinvar/227122 ^@ NM_006073.3(TRDN):c.503_508delAAAAAG (p.Glu168_Lys169del) http://identifiers.org/clinvar/227121 ^@ NM_006073.3(TRDN):c.430C>T (p.His144Tyr) http://identifiers.org/clinvar/227120 ^@ NM_006073.3(TRDN):c.403G>A (p.Glu135Lys) http://identifiers.org/clinvar/227119 ^@ NM_006073.3(TRDN):c.383C>G (p.Thr128Ser) http://identifiers.org/clinvar/227118 ^@ NM_006073.3(TRDN):c.274G>A (p.Val92Ile) http://identifiers.org/clinvar/229348 ^@ NM_006073.3(TRDN):c.125C>T (p.Thr42Met) http://identifiers.org/clinvar/228027 ^@ NM_006073.3(TRDN):c.84C>T (p.Pro28=) http://identifiers.org/clinvar/227371 ^@ NM_004100.4(EYA4):c.9C>T (p.Asp3=) http://identifiers.org/clinvar/228260 ^@ NM_004100.4(EYA4):c.371-2A>C http://identifiers.org/clinvar/228681 ^@ NM_004100.4(EYA4):c.529G>A (p.Val177Ile) http://identifiers.org/clinvar/228682 ^@ NM_004100.4(EYA4):c.723A>G (p.Pro241=) http://identifiers.org/clinvar/227370 ^@ NM_004100.4(EYA4):c.741A>G (p.Pro247=) http://identifiers.org/clinvar/228680 ^@ NM_004100.4(EYA4):c.1223G>A (p.Arg408His) http://identifiers.org/clinvar/227368 ^@ NM_004100.4(EYA4):c.1437G>A (p.Arg479=) http://identifiers.org/clinvar/227369 ^@ NM_004100.4(EYA4):c.1617-11C>T http://identifiers.org/clinvar/226620 ^@ NM_032122.4(DTNBP1):c.874A>G (p.Arg292Gly) http://identifiers.org/clinvar/226619 ^@ NM_032122.4(DTNBP1):c.667+2C>T http://identifiers.org/clinvar/227936 ^@ NM_001195291.2(SERPINB6):c.1062C>T (p.Cys354=) http://identifiers.org/clinvar/229241 ^@ NM_001195291.2(SERPINB6):c.1054C>T (p.Arg352Cys) http://identifiers.org/clinvar/227940 ^@ NM_001195291.2(SERPINB6):c.1008C>T (p.Ala336=) http://identifiers.org/clinvar/227939 ^@ NM_001195291.2(SERPINB6):c.953A>G (p.Lys318Arg) http://identifiers.org/clinvar/227938 ^@ NM_001195291.2(SERPINB6):c.828G>A (p.Pro276=) http://identifiers.org/clinvar/227937 ^@ NM_001195291.2(SERPINB6):c.720C>T (p.Asp240=) http://identifiers.org/clinvar/229243 ^@ NM_001195291.2(SERPINB6):c.515A>G (p.Tyr172Cys) http://identifiers.org/clinvar/229240 ^@ NM_001195291.2(SERPINB6):c.326C>A (p.Ser109Tyr) http://identifiers.org/clinvar/227941 ^@ NM_001195291.2(SERPINB6):c.325-15C>T http://identifiers.org/clinvar/227935 ^@ NM_001195291.2(SERPINB6):c.112A>G (p.Met38Val) http://identifiers.org/clinvar/229242 ^@ NM_001195291.2(SERPINB6):c.10A>G (p.Ile4Val) http://identifiers.org/clinvar/226539 ^@ NM_080680.2(COL11A2):c.5071-5T>G http://identifiers.org/clinvar/228537 ^@ NM_080680.2(COL11A2):c.4786C>T (p.Arg1596Trp) http://identifiers.org/clinvar/227272 ^@ NM_080680.2(COL11A2):c.4751-9A>G http://identifiers.org/clinvar/228536 ^@ NM_080680.2(COL11A2):c.4559G>A (p.Arg1520His) http://identifiers.org/clinvar/226538 ^@ NM_080680.2(COL11A2):c.4392+12C>T http://identifiers.org/clinvar/226537 ^@ NM_080680.2(COL11A2):c.4383C>T (p.Pro1461=) http://identifiers.org/clinvar/228535 ^@ NM_080680.2(COL11A2):c.4291C>T (p.Arg1431Trp) http://identifiers.org/clinvar/227271 ^@ NM_080680.2(COL11A2):c.4041G>A (p.Pro1347=) http://identifiers.org/clinvar/226536 ^@ NM_080680.2(COL11A2):c.3615C>A (p.Asn1205Lys) http://identifiers.org/clinvar/228531 ^@ NM_080680.2(COL11A2):c.3556G>A (p.Gly1186Ser) http://identifiers.org/clinvar/227270 ^@ NM_080680.2(COL11A2):c.3531A>G (p.Gly1177=) http://identifiers.org/clinvar/227269 ^@ NM_080680.2(COL11A2):c.3529-3C>T http://identifiers.org/clinvar/226535 ^@ NM_080680.2(COL11A2):c.3384C>T (p.Pro1128=) http://identifiers.org/clinvar/227268 ^@ NM_080680.2(COL11A2):c.2928G>A (p.Gly976=) http://identifiers.org/clinvar/227267 ^@ NM_080680.2(COL11A2):c.2808C>T (p.Thr936=) http://identifiers.org/clinvar/226534 ^@ NM_080680.2(COL11A2):c.2757C>T (p.Gly919=) http://identifiers.org/clinvar/227266 ^@ NM_080680.2(COL11A2):c.2584-5delC http://identifiers.org/clinvar/227265 ^@ NM_080680.2(COL11A2):c.2431-11G>A http://identifiers.org/clinvar/227264 ^@ NM_080680.2(COL11A2):c.2064A>G (p.Gly688=) http://identifiers.org/clinvar/227263 ^@ NM_080680.2(COL11A2):c.1968C>T (p.Thr656=) http://identifiers.org/clinvar/228532 ^@ NM_080680.2(COL11A2):c.1880G>A (p.Arg627Gln) http://identifiers.org/clinvar/226532 ^@ NM_080680.2(COL11A2):c.1819-10G>A http://identifiers.org/clinvar/227262 ^@ NM_080680.2(COL11A2):c.1774-9C>T http://identifiers.org/clinvar/227261 ^@ NM_080680.2(COL11A2):c.1716T>C (p.His572=) http://identifiers.org/clinvar/228530 ^@ NM_080680.2(COL11A2):c.1678T>G (p.Phe560Val) http://identifiers.org/clinvar/226531 ^@ NM_080680.2(COL11A2):c.1666-5_1666-3delCCT http://identifiers.org/clinvar/227260 ^@ NM_080680.2(COL11A2):c.1612-10G>C http://identifiers.org/clinvar/228529 ^@ NM_080680.2(COL11A2):c.1557+5C>T http://identifiers.org/clinvar/228528 ^@ NM_080680.2(COL11A2):c.1489C>T (p.Arg497Cys) http://identifiers.org/clinvar/228527 ^@ NM_080680.2(COL11A2):c.1119+1G>C http://identifiers.org/clinvar/226530 ^@ NM_080680.2(COL11A2):c.1098G>A (p.Ala366=) http://identifiers.org/clinvar/227273 ^@ NM_080680.2(COL11A2):c.966C>A (p.Pro322=) http://identifiers.org/clinvar/228539 ^@ NM_080680.2(COL11A2):c.854C>T (p.Thr285Met) http://identifiers.org/clinvar/227274 ^@ NM_080680.2(COL11A2):c.799-4C>A http://identifiers.org/clinvar/227259 ^@ NM_080680.2(COL11A2):c.799-13C>T http://identifiers.org/clinvar/228526 ^@ NM_080680.2(COL11A2):c.752A>T (p.Gln251Leu) http://identifiers.org/clinvar/228538 ^@ NM_080680.2(COL11A2):c.517C>T (p.Arg173Trp) http://identifiers.org/clinvar/228534 ^@ NM_080680.2(COL11A2):c.338G>T (p.Gly113Val) http://identifiers.org/clinvar/228533 ^@ NM_080680.2(COL11A2):c.233-8G>T http://identifiers.org/clinvar/226533 ^@ NM_080680.2(COL11A2):c.230C>A (p.Pro77Gln) http://identifiers.org/clinvar/228800 ^@ NM_182548.3(LHFPL5):c.43C>T (p.His15Tyr) http://identifiers.org/clinvar/228799 ^@ NM_182548.3(LHFPL5):c.176C>A (p.Ala59Glu) http://identifiers.org/clinvar/227500 ^@ NM_182548.3(LHFPL5):c.411G>A (p.Ala137=) http://identifiers.org/clinvar/228801 ^@ NM_182548.3(LHFPL5):c.475C>T (p.Arg159Cys) http://identifiers.org/clinvar/227501 ^@ NM_182548.3(LHFPL5):c.525C>A (p.Ile175=) http://identifiers.org/clinvar/227904 ^@ NM_152732.4(RSPH9):c.702T>C (p.Asn234=) http://identifiers.org/clinvar/228650 ^@ NM_004415.3(DSP):c.877G>A (p.Glu293Lys) http://identifiers.org/clinvar/228652 ^@ NM_004415.3(DSP):c.895A>G (p.Ser299Gly) http://identifiers.org/clinvar/228651 ^@ NM_004415.3(DSP):c.927G>T (p.Gln309His) http://identifiers.org/clinvar/228653 ^@ NM_004415.3(DSP):c.939C>T (p.Ser313=) http://identifiers.org/clinvar/228654 ^@ NM_004415.3(DSP):c.992A>C (p.Gln331Pro) http://identifiers.org/clinvar/228635 ^@ NM_004415.3(DSP):c.1483G>A (p.Val495Met) http://identifiers.org/clinvar/228636 ^@ NM_004415.3(DSP):c.1517C>T (p.Pro506Leu) http://identifiers.org/clinvar/228253 ^@ NM_004415.3(DSP):c.1873C>T (p.Gln625Ter) http://identifiers.org/clinvar/228637 ^@ NM_004415.3(DSP):c.2546A>G (p.Tyr849Cys) http://identifiers.org/clinvar/227341 ^@ NM_004415.3(DSP):c.3276G>C (p.Ser1092=) http://identifiers.org/clinvar/227342 ^@ NM_004415.3(DSP):c.3303C>T (p.Tyr1101=) http://identifiers.org/clinvar/228638 ^@ NM_004415.3(DSP):c.3392G>C (p.Arg1131Thr) http://identifiers.org/clinvar/228254 ^@ NM_004415.3(DSP):c.3507C>A (p.Tyr1169Ter) http://identifiers.org/clinvar/228639 ^@ NM_004415.3(DSP):c.3806G>A (p.Arg1269Gln) http://identifiers.org/clinvar/228640 ^@ NM_004415.3(DSP):c.3835G>A (p.Ala1279Thr) http://identifiers.org/clinvar/228641 ^@ NM_004415.3(DSP):c.4478A>C (p.Glu1493Ala) http://identifiers.org/clinvar/228642 ^@ NM_004415.3(DSP):c.4514C>T (p.Ala1505Val) http://identifiers.org/clinvar/228643 ^@ NM_004415.3(DSP):c.4526G>A (p.Arg1509Lys) http://identifiers.org/clinvar/227343 ^@ NM_004415.3(DSP):c.4899C>G (p.Leu1633=) http://identifiers.org/clinvar/227674 ^@ NM_004999.3(MYO6):c.18C>T (p.Pro6=) http://identifiers.org/clinvar/227675 ^@ NM_004999.3(MYO6):c.27G>A (p.Ala9=) http://identifiers.org/clinvar/227344 ^@ NM_004415.3(DSP):c.5417C>G (p.Thr1806Ser) http://identifiers.org/clinvar/227673 ^@ NM_004999.3(MYO6):c.188-3T>C http://identifiers.org/clinvar/228993 ^@ NM_004999.3(MYO6):c.292A>G (p.Asn98Asp) http://identifiers.org/clinvar/228376 ^@ NM_004999.3(MYO6):c.458C>G (p.Ser153Ter) http://identifiers.org/clinvar/228644 ^@ NM_004415.3(DSP):c.6062C>G (p.Ala2021Gly) http://identifiers.org/clinvar/228645 ^@ NM_004415.3(DSP):c.6275C>T (p.Ala2092Val) http://identifiers.org/clinvar/227676 ^@ NM_004999.3(MYO6):c.553+13T>A http://identifiers.org/clinvar/228647 ^@ NM_004415.3(DSP):c.6442G>A (p.Ala2148Thr) http://identifiers.org/clinvar/228646 ^@ NM_004415.3(DSP):c.6557T>G (p.Leu2186Arg) http://identifiers.org/clinvar/228648 ^@ NM_004415.3(DSP):c.6610C>T (p.Gln2204Ter) http://identifiers.org/clinvar/228649 ^@ NM_004415.3(DSP):c.7622G>A (p.Arg2541Lys) http://identifiers.org/clinvar/228989 ^@ NM_004999.3(MYO6):c.1079-5A>G http://identifiers.org/clinvar/227345 ^@ NM_004415.3(DSP):c.8394T>A (p.Thr2798=) http://identifiers.org/clinvar/227346 ^@ NM_004415.3(DSP):c.8493G>A (p.Ser2831=) http://identifiers.org/clinvar/227672 ^@ NM_004999.3(MYO6):c.1473+10A>G http://identifiers.org/clinvar/228990 ^@ NM_004999.3(MYO6):c.1853G>A (p.Arg618Gln) http://identifiers.org/clinvar/228991 ^@ NM_004999.3(MYO6):c.2107G>C (p.Gly703Arg) http://identifiers.org/clinvar/228992 ^@ NM_004999.3(MYO6):c.2507G>A (p.Arg836His) http://identifiers.org/clinvar/228375 ^@ NM_004999.3(MYO6):c.2814_2815delAA (p.Arg939Thrfs) http://identifiers.org/clinvar/237886 ^@ NM_000535.6(PMS2):c.1454C>T (p.Thr485Met) http://identifiers.org/clinvar/237885 ^@ NM_000535.6(PMS2):c.1354G>T (p.Gly452Cys) http://identifiers.org/clinvar/237884 ^@ NM_000535.6(PMS2):c.1326A>G (p.Pro442=) http://identifiers.org/clinvar/237883 ^@ NM_000535.6(PMS2):c.1312A>C (p.Lys438Gln) http://identifiers.org/clinvar/237881 ^@ NM_000535.6(PMS2):c.1233A>C (p.Glu411Asp) http://identifiers.org/clinvar/237877 ^@ NM_000535.6(PMS2):c.1145-10G>A http://identifiers.org/clinvar/237880 ^@ NM_000535.6(PMS2):c.1144+5delG http://identifiers.org/clinvar/237879 ^@ NM_000535.6(PMS2):c.1099G>A (p.Val367Ile) http://identifiers.org/clinvar/237878 ^@ NM_000535.6(PMS2):c.1040A>G (p.Glu347Gly) http://identifiers.org/clinvar/237935 ^@ NM_000535.6(PMS2):c.972C>A (p.Asn324Lys) http://identifiers.org/clinvar/237934 ^@ NM_000535.6(PMS2):c.947_948delAC (p.His316Profs) http://identifiers.org/clinvar/237933 ^@ NM_000535.6(PMS2):c.917T>A (p.Val306Glu) http://identifiers.org/clinvar/237931 ^@ NM_000535.6(PMS2):c.903+4T>A http://identifiers.org/clinvar/237930 ^@ NM_000535.6(PMS2):c.903+2T>C http://identifiers.org/clinvar/237932 ^@ NM_000535.6(PMS2):c.903G>A (p.Lys301=) http://identifiers.org/clinvar/237928 ^@ NM_000535.6(PMS2):c.885G>T (p.Arg295=) http://identifiers.org/clinvar/237927 ^@ NM_000535.6(PMS2):c.780C>A (p.Ser260=) http://identifiers.org/clinvar/237926 ^@ NM_000535.6(PMS2):c.739C>T (p.Pro247Ser) http://identifiers.org/clinvar/237925 ^@ NM_000535.6(PMS2):c.663C>T (p.Pro221=) http://identifiers.org/clinvar/237924 ^@ NM_000535.6(PMS2):c.662C>T (p.Pro221Leu) http://identifiers.org/clinvar/237923 ^@ NM_000535.6(PMS2):c.652G>C (p.Gly218Arg) http://identifiers.org/clinvar/237922 ^@ NM_000535.6(PMS2):c.630A>G (p.Lys210=) http://identifiers.org/clinvar/237921 ^@ NM_000535.6(PMS2):c.620G>C (p.Gly207Ala) http://identifiers.org/clinvar/237919 ^@ NM_000535.6(PMS2):c.537+4C>T http://identifiers.org/clinvar/237918 ^@ NM_000535.6(PMS2):c.504G>A (p.Val168=) http://identifiers.org/clinvar/237917 ^@ NM_000535.6(PMS2):c.471C>A (p.Val157=) http://identifiers.org/clinvar/237915 ^@ NM_000535.6(PMS2):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/237914 ^@ NM_000535.6(PMS2):c.378C>G (p.His126Gln) http://identifiers.org/clinvar/237913 ^@ NM_000535.6(PMS2):c.353+6A>G http://identifiers.org/clinvar/237911 ^@ NM_000535.6(PMS2):c.291C>A (p.Asp97Glu) http://identifiers.org/clinvar/237909 ^@ NM_000535.6(PMS2):c.244G>A (p.Gly82Ser) http://identifiers.org/clinvar/237936 ^@ NM_000535.6(PMS2):c.97C>T (p.Leu33=) http://identifiers.org/clinvar/237929 ^@ NM_000535.6(PMS2):c.88C>A (p.Gln30Lys) http://identifiers.org/clinvar/237920 ^@ NM_000535.6(PMS2):c.54T>C (p.Ile18=) http://identifiers.org/clinvar/237916 ^@ NM_000535.6(PMS2):c.43A>G (p.Ile15Val) http://identifiers.org/clinvar/237912 ^@ NM_000535.6(PMS2):c.29A>C (p.Glu10Ala) http://identifiers.org/clinvar/237907 ^@ NM_000535.6(PMS2):c.24-3T>C http://identifiers.org/clinvar/237906 ^@ NM_000535.6(PMS2):c.23+7G>A http://identifiers.org/clinvar/237882 ^@ NM_000535.6(PMS2):c.12T>G (p.Ala4=) http://identifiers.org/clinvar/241204 ^@ NM_017802.3(DNAAF5):c.27C>T (p.Ala9=) http://identifiers.org/clinvar/241205 ^@ NM_017802.3(DNAAF5):c.30G>A (p.Val10=) http://identifiers.org/clinvar/241206 ^@ NM_017802.3(DNAAF5):c.440A>G (p.Gln147Arg) http://identifiers.org/clinvar/241207 ^@ NM_017802.3(DNAAF5):c.477G>A (p.Ala159=) http://identifiers.org/clinvar/241208 ^@ NM_017802.3(DNAAF5):c.550C>A (p.Arg184Ser) http://identifiers.org/clinvar/241209 ^@ NM_017802.3(DNAAF5):c.707A>T (p.His236Leu) http://identifiers.org/clinvar/241210 ^@ NM_017802.3(DNAAF5):c.711T>C (p.Phe237=) http://identifiers.org/clinvar/238948 ^@ NM_001278939.1(ELN):c.134-4dup http://identifiers.org/clinvar/238949 ^@ NM_001278939.1(ELN):c.417delG (p.Val141Cysfs) http://identifiers.org/clinvar/238950 ^@ NM_001278939.1(ELN):c.892G>A (p.Val298Ile) http://identifiers.org/clinvar/241211 ^@ NM_017802.3(DNAAF5):c.921C>A (p.Ser307Arg) http://identifiers.org/clinvar/241194 ^@ NM_017802.3(DNAAF5):c.1231G>A (p.Asp411Asn) http://identifiers.org/clinvar/241195 ^@ NM_017802.3(DNAAF5):c.1245C>T (p.Ala415=) http://identifiers.org/clinvar/241196 ^@ NM_017802.3(DNAAF5):c.1544C>T (p.Ala515Val) http://identifiers.org/clinvar/239028 ^@ NM_001540.3(HSPB1):c.178C>T (p.Pro60Ser) http://identifiers.org/clinvar/239029 ^@ NM_001540.3(HSPB1):c.567C>T (p.Ala189=) http://identifiers.org/clinvar/241197 ^@ NM_017802.3(DNAAF5):c.1678C>T (p.Arg560Cys) http://identifiers.org/clinvar/241198 ^@ NM_017802.3(DNAAF5):c.1689T>C (p.Ile563=) http://identifiers.org/clinvar/241199 ^@ NM_017802.3(DNAAF5):c.1716G>A (p.Ala572=) http://identifiers.org/clinvar/241200 ^@ NM_017802.3(DNAAF5):c.1783+10C>T http://identifiers.org/clinvar/241201 ^@ NM_017802.3(DNAAF5):c.2082+8delG http://identifiers.org/clinvar/241202 ^@ NM_017802.3(DNAAF5):c.2353_2354delAG (p.Ser785Glnfs) http://identifiers.org/clinvar/241203 ^@ NM_017802.3(DNAAF5):c.2564A>G (p.Gln855Arg) http://identifiers.org/clinvar/238180 ^@ NM_000722.3(CACNA2D1):c.1983G>A (p.Ser661=) http://identifiers.org/clinvar/238179 ^@ NM_000722.3(CACNA2D1):c.1332C>T (p.Val444=) http://identifiers.org/clinvar/240862 ^@ NM_012431.2(SEMA3E):c.1722A>T (p.Gly574=) http://identifiers.org/clinvar/240257 ^@ NM_005751.4(AKAP9):c.645A>G (p.Gln215=) http://identifiers.org/clinvar/240247 ^@ NM_005751.4(AKAP9):c.1101G>A (p.Val367=) http://identifiers.org/clinvar/240248 ^@ NM_005751.4(AKAP9):c.1242C>T (p.Phe414=) http://identifiers.org/clinvar/240249 ^@ NM_005751.4(AKAP9):c.1984C>T (p.His662Tyr) http://identifiers.org/clinvar/240250 ^@ NM_005751.4(AKAP9):c.2311G>A (p.Ala771Thr) http://identifiers.org/clinvar/240251 ^@ NM_005751.4(AKAP9):c.2589G>A (p.Glu863=) http://identifiers.org/clinvar/240252 ^@ NM_005751.4(AKAP9):c.3430T>C (p.Cys1144Arg) http://identifiers.org/clinvar/240253 ^@ NM_005751.4(AKAP9):c.4055A>T (p.Gln1352Leu) http://identifiers.org/clinvar/240254 ^@ NM_005751.4(AKAP9):c.5048C>T (p.Thr1683Met) http://identifiers.org/clinvar/240255 ^@ NM_005751.4(AKAP9):c.5610T>C (p.His1870=) http://identifiers.org/clinvar/240256 ^@ NM_005751.4(AKAP9):c.6382C>A (p.Leu2128Ile) http://identifiers.org/clinvar/240258 ^@ NM_005751.4(AKAP9):c.6966A>G (p.Glu2322=) http://identifiers.org/clinvar/240259 ^@ NM_005751.4(AKAP9):c.7469G>A (p.Gly2490Asp) http://identifiers.org/clinvar/240260 ^@ NM_005751.4(AKAP9):c.7683T>C (p.Leu2561=) http://identifiers.org/clinvar/240261 ^@ NM_005751.4(AKAP9):c.8052A>G (p.Glu2684=) http://identifiers.org/clinvar/240262 ^@ NM_005751.4(AKAP9):c.8646+8G>A http://identifiers.org/clinvar/240263 ^@ NM_005751.4(AKAP9):c.9000G>T (p.Lys3000Asn) http://identifiers.org/clinvar/240264 ^@ NM_005751.4(AKAP9):c.9181C>T (p.Leu3061=) http://identifiers.org/clinvar/240265 ^@ NM_005751.4(AKAP9):c.9443C>T (p.Thr3148Met) http://identifiers.org/clinvar/240266 ^@ NM_005751.4(AKAP9):c.9648A>G (p.Lys3216=) http://identifiers.org/clinvar/240267 ^@ NM_005751.4(AKAP9):c.9915G>A (p.Glu3305=) http://identifiers.org/clinvar/240246 ^@ NM_005751.4(AKAP9):c.10236G>A (p.Val3412=) http://identifiers.org/clinvar/238561 ^@ NM_001145715.2(KPNA7):c.1415G>A (p.Arg472His) http://identifiers.org/clinvar/238560 ^@ NM_001145715.2(KPNA7):c.1311C>A (p.Ile437=) http://identifiers.org/clinvar/238564 ^@ NM_001145715.2(KPNA7):c.865G>C (p.Val289Leu) http://identifiers.org/clinvar/238563 ^@ NM_001145715.2(KPNA7):c.631C>G (p.Leu211Val) http://identifiers.org/clinvar/238562 ^@ NM_001145715.2(KPNA7):c.201+8T>C http://identifiers.org/clinvar/242014 ^@ NM_172218.2(SPAG1):c.205G>A (p.Ala69Thr) http://identifiers.org/clinvar/242016 ^@ NM_172218.2(SPAG1):c.639G>A (p.Lys213=) http://identifiers.org/clinvar/242017 ^@ NM_172218.2(SPAG1):c.957T>A (p.Val319=) http://identifiers.org/clinvar/242010 ^@ NM_172218.2(SPAG1):c.1103C>T (p.Ala368Val) http://identifiers.org/clinvar/242011 ^@ NM_172218.2(SPAG1):c.1360G>C (p.Glu454Gln) http://identifiers.org/clinvar/242012 ^@ NM_172218.2(SPAG1):c.1414A>G (p.Ile472Val) http://identifiers.org/clinvar/242013 ^@ NM_172218.2(SPAG1):c.1586T>C (p.Met529Thr) http://identifiers.org/clinvar/242015 ^@ NM_172218.2(SPAG1):c.2714C>T (p.Ser905Leu) http://identifiers.org/clinvar/240844 ^@ NM_012082.3(ZFPM2):c.292G>A (p.Asp98Asn) http://identifiers.org/clinvar/240842 ^@ NM_012082.3(ZFPM2):c.2096A>C (p.His699Pro) http://identifiers.org/clinvar/240843 ^@ NM_012082.3(ZFPM2):c.2665C>G (p.Gln889Glu) http://identifiers.org/clinvar/239100 ^@ NM_002052.4(GATA4):c.348C>T (p.Ser116=) http://identifiers.org/clinvar/239101 ^@ NM_002052.4(GATA4):c.627C>T (p.Asp209=) http://identifiers.org/clinvar/239095 ^@ NM_002052.4(GATA4):c.1023T>C (p.Pro341=) http://identifiers.org/clinvar/239096 ^@ NM_002052.4(GATA4):c.1113A>G (p.Ser371=) http://identifiers.org/clinvar/239097 ^@ NM_002052.4(GATA4):c.1133G>T (p.Ser378Ile) http://identifiers.org/clinvar/239098 ^@ NM_002052.4(GATA4):c.1221A>C (p.Pro407=) http://identifiers.org/clinvar/239099 ^@ NM_002052.4(GATA4):c.1232C>T (p.Ala411Val) http://identifiers.org/clinvar/240929 ^@ NM_014846.3(WASHC5):c.2137G>A (p.Glu713Lys) http://identifiers.org/clinvar/240928 ^@ NM_014846.3(WASHC5):c.1409-8A>C http://identifiers.org/clinvar/240930 ^@ NM_014846.3(WASHC5):c.655G>A (p.Glu219Lys) http://identifiers.org/clinvar/239950 ^@ NM_004519.3(KCNQ3):c.2079G>A (p.Pro693=) http://identifiers.org/clinvar/240289 ^@ NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) http://identifiers.org/clinvar/240290 ^@ NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp) http://identifiers.org/clinvar/239585 ^@ NM_003923.2(FOXH1):c.361C>A (p.Arg121=) http://identifiers.org/clinvar/239771 ^@ NM_004260.3(RECQL4):c.3622C>T (p.Arg1208Cys) http://identifiers.org/clinvar/239770 ^@ NM_004260.3(RECQL4):c.3609C>T (p.Leu1203=) http://identifiers.org/clinvar/239769 ^@ NM_004260.3(RECQL4):c.3594G>A (p.Leu1198=) http://identifiers.org/clinvar/239768 ^@ NM_004260.3(RECQL4):c.3582C>T (p.Ala1194=) http://identifiers.org/clinvar/239767 ^@ NM_004260.3(RECQL4):c.3573C>T (p.Ser1191=) http://identifiers.org/clinvar/239766 ^@ NM_004260.3(RECQL4):c.3544C>T (p.Arg1182Cys) http://identifiers.org/clinvar/239765 ^@ NM_004260.3(RECQL4):c.3531C>T (p.Tyr1177=) http://identifiers.org/clinvar/239764 ^@ NM_004260.3(RECQL4):c.3495C>T (p.His1165=) http://identifiers.org/clinvar/239763 ^@ NM_004260.3(RECQL4):c.3424G>C (p.Asp1142His) http://identifiers.org/clinvar/239762 ^@ NM_004260.3(RECQL4):c.3393+8_3393+9delinsTG http://identifiers.org/clinvar/239761 ^@ NM_004260.3(RECQL4):c.3392G>A (p.Arg1131Lys) http://identifiers.org/clinvar/239760 ^@ NM_004260.3(RECQL4):c.3236+4G>A http://identifiers.org/clinvar/239759 ^@ NM_004260.3(RECQL4):c.3172C>T (p.Arg1058Cys) http://identifiers.org/clinvar/239758 ^@ NM_004260.3(RECQL4):c.3162C>T (p.Phe1054=) http://identifiers.org/clinvar/239757 ^@ NM_004260.3(RECQL4):c.3127C>T (p.Leu1043=) http://identifiers.org/clinvar/239754 ^@ NM_004260.3(RECQL4):c.3072_3073delAG (p.Val1026Alafs) http://identifiers.org/clinvar/239753 ^@ NM_004260.3(RECQL4):c.3027G>A (p.Gln1009=) http://identifiers.org/clinvar/239752 ^@ NM_004260.3(RECQL4):c.3010C>T (p.Arg1004Trp) http://identifiers.org/clinvar/239751 ^@ NM_004260.3(RECQL4):c.2967G>A (p.Met989Ile) http://identifiers.org/clinvar/239750 ^@ NM_004260.3(RECQL4):c.2885+9G>A http://identifiers.org/clinvar/239748 ^@ NM_004260.3(RECQL4):c.2849C>G (p.Pro950Arg) http://identifiers.org/clinvar/239747 ^@ NM_004260.3(RECQL4):c.2817G>A (p.Ala939=) http://identifiers.org/clinvar/239745 ^@ NM_004260.3(RECQL4):c.2724T>C (p.Leu908=) http://identifiers.org/clinvar/239744 ^@ NM_004260.3(RECQL4):c.2665G>A (p.Ala889Thr) http://identifiers.org/clinvar/239743 ^@ NM_004260.3(RECQL4):c.2636C>T (p.Pro879Leu) http://identifiers.org/clinvar/239742 ^@ NM_004260.3(RECQL4):c.2601C>G (p.Ala867=) http://identifiers.org/clinvar/239741 ^@ NM_004260.3(RECQL4):c.2592G>A (p.Gln864=) http://identifiers.org/clinvar/239740 ^@ NM_004260.3(RECQL4):c.2582C>T (p.Pro861Leu) http://identifiers.org/clinvar/239739 ^@ NM_004260.3(RECQL4):c.2580G>A (p.Pro860=) http://identifiers.org/clinvar/239738 ^@ NM_004260.3(RECQL4):c.2569_2574dupTGCACC (p.Thr858_Arg859insCysThr) http://identifiers.org/clinvar/239737 ^@ NM_004260.3(RECQL4):c.2545G>A (p.Val849Met) http://identifiers.org/clinvar/239736 ^@ NM_004260.3(RECQL4):c.2544C>T (p.Arg848=) http://identifiers.org/clinvar/239735 ^@ NM_004260.3(RECQL4):c.2503G>A (p.Asp835Asn) http://identifiers.org/clinvar/239734 ^@ NM_004260.3(RECQL4):c.2492A>G (p.His831Arg) http://identifiers.org/clinvar/239731 ^@ NM_004260.3(RECQL4):c.2463+7_2463+8del http://identifiers.org/clinvar/239732 ^@ NM_004260.3(RECQL4):c.2463+7A>C http://identifiers.org/clinvar/239733 ^@ NM_004260.3(RECQL4):c.2463+7del http://identifiers.org/clinvar/239730 ^@ NM_004260.3(RECQL4):c.2463+6C>T http://identifiers.org/clinvar/239729 ^@ NM_004260.3(RECQL4):c.2463+3T>C http://identifiers.org/clinvar/239728 ^@ NM_004260.3(RECQL4):c.2460C>T (p.Pro820=) http://identifiers.org/clinvar/239727 ^@ NM_004260.3(RECQL4):c.2424C>T (p.Asp808=) http://identifiers.org/clinvar/239724 ^@ NM_004260.3(RECQL4):c.2412_2420delGGCCGGGCG (p.Ala805_Arg807del) http://identifiers.org/clinvar/239726 ^@ NM_004260.3(RECQL4):c.2417G>A (p.Gly806Glu) http://identifiers.org/clinvar/239725 ^@ NM_004260.3(RECQL4):c.2415C>T (p.Ala805=) http://identifiers.org/clinvar/239722 ^@ NM_004260.3(RECQL4):c.2379_2380dupAA (p.Ser794Lysfs) http://identifiers.org/clinvar/239721 ^@ NM_004260.3(RECQL4):c.2260C>T (p.Arg754Trp) http://identifiers.org/clinvar/239720 ^@ NM_004260.3(RECQL4):c.2258G>A (p.Arg753Gln) http://identifiers.org/clinvar/239719 ^@ NM_004260.3(RECQL4):c.2237C>T (p.Ala746Val) http://identifiers.org/clinvar/239718 ^@ NM_004260.3(RECQL4):c.2223C>T (p.Ala741=) http://identifiers.org/clinvar/239717 ^@ NM_004260.3(RECQL4):c.2201-8C>T http://identifiers.org/clinvar/239716 ^@ NM_004260.3(RECQL4):c.2200+5G>A http://identifiers.org/clinvar/239715 ^@ NM_004260.3(RECQL4):c.2099T>C (p.Leu700Pro) http://identifiers.org/clinvar/239714 ^@ NM_004260.3(RECQL4):c.1961A>G (p.Gln654Arg) http://identifiers.org/clinvar/239712 ^@ NM_004260.3(RECQL4):c.1959A>G (p.Ala653=) http://identifiers.org/clinvar/239709 ^@ NM_004260.3(RECQL4):c.1899C>T (p.Gly633=) http://identifiers.org/clinvar/239711 ^@ NM_004260.3(RECQL4):c.1864C>T (p.Leu622=) http://identifiers.org/clinvar/239710 ^@ NM_004260.3(RECQL4):c.1847A>G (p.Asn616Ser) http://identifiers.org/clinvar/239708 ^@ NM_004260.3(RECQL4):c.1816G>T (p.Glu606Ter) http://identifiers.org/clinvar/239707 ^@ NM_004260.3(RECQL4):c.1779C>T (p.Ala593=) http://identifiers.org/clinvar/239705 ^@ NM_004260.3(RECQL4):c.1756G>T (p.Gly586Trp) http://identifiers.org/clinvar/239704 ^@ NM_004260.3(RECQL4):c.1755G>C (p.Val585=) http://identifiers.org/clinvar/239703 ^@ NM_004260.3(RECQL4):c.1704G>A (p.Lys568=) http://identifiers.org/clinvar/239702 ^@ NM_004260.3(RECQL4):c.1696C>T (p.Leu566=) http://identifiers.org/clinvar/239701 ^@ NM_004260.3(RECQL4):c.1621-8A>G http://identifiers.org/clinvar/239700 ^@ NM_004260.3(RECQL4):c.1561C>T (p.Arg521Trp) http://identifiers.org/clinvar/239698 ^@ NM_004260.3(RECQL4):c.1548G>A (p.Ala516=) http://identifiers.org/clinvar/239697 ^@ NM_004260.3(RECQL4):c.1471C>T (p.Arg491Trp) http://identifiers.org/clinvar/239696 ^@ NM_004260.3(RECQL4):c.1390+3G>A http://identifiers.org/clinvar/239695 ^@ NM_004260.3(RECQL4):c.1348G>A (p.Val450Met) http://identifiers.org/clinvar/239694 ^@ NM_004260.3(RECQL4):c.1219G>A (p.Glu407Lys) http://identifiers.org/clinvar/239693 ^@ NM_004260.3(RECQL4):c.1159G>A (p.Gly387Arg) http://identifiers.org/clinvar/239691 ^@ NM_004260.3(RECQL4):c.1096G>C (p.Gly366Arg) http://identifiers.org/clinvar/239690 ^@ NM_004260.3(RECQL4):c.1060G>A (p.Val354Ile) http://identifiers.org/clinvar/239689 ^@ NM_004260.3(RECQL4):c.1048A>G (p.Arg350Gly) http://identifiers.org/clinvar/239785 ^@ NM_004260.3(RECQL4):c.969C>T (p.Ser323=) http://identifiers.org/clinvar/239784 ^@ NM_004260.3(RECQL4):c.891C>G (p.Asp297Glu) http://identifiers.org/clinvar/239783 ^@ NM_004260.3(RECQL4):c.817G>A (p.Ala273Thr) http://identifiers.org/clinvar/239782 ^@ NM_004260.3(RECQL4):c.778G>A (p.Glu260Lys) http://identifiers.org/clinvar/239781 ^@ NM_004260.3(RECQL4):c.664C>T (p.Pro222Ser) http://identifiers.org/clinvar/239780 ^@ NM_004260.3(RECQL4):c.615C>G (p.Pro205=) http://identifiers.org/clinvar/239779 ^@ NM_004260.3(RECQL4):c.520C>T (p.His174Tyr) http://identifiers.org/clinvar/239778 ^@ NM_004260.3(RECQL4):c.513G>C (p.Arg171=) http://identifiers.org/clinvar/239777 ^@ NM_004260.3(RECQL4):c.492G>A (p.Glu164=) http://identifiers.org/clinvar/239776 ^@ NM_004260.3(RECQL4):c.465C>G (p.Val155=) http://identifiers.org/clinvar/239775 ^@ NM_004260.3(RECQL4):c.447C>T (p.Pro149=) http://identifiers.org/clinvar/239774 ^@ NM_004260.3(RECQL4):c.388C>T (p.Leu130=) http://identifiers.org/clinvar/239773 ^@ NM_004260.3(RECQL4):c.385C>T (p.Pro129Ser) http://identifiers.org/clinvar/239772 ^@ NM_004260.3(RECQL4):c.380C>T (p.Pro127Leu) http://identifiers.org/clinvar/239756 ^@ NM_004260.3(RECQL4):c.309G>A (p.Pro103=) http://identifiers.org/clinvar/239755 ^@ NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) http://identifiers.org/clinvar/239749 ^@ NM_004260.3(RECQL4):c.286C>A (p.Arg96=) http://identifiers.org/clinvar/239746 ^@ NM_004260.3(RECQL4):c.274C>T (p.Pro92Ser) http://identifiers.org/clinvar/239723 ^@ NM_004260.3(RECQL4):c.240C>T (p.Pro80=) http://identifiers.org/clinvar/239713 ^@ NM_004260.3(RECQL4):c.195C>G (p.Leu65=) http://identifiers.org/clinvar/239706 ^@ NM_004260.3(RECQL4):c.175C>T (p.Leu59Phe) http://identifiers.org/clinvar/239699 ^@ NM_004260.3(RECQL4):c.155C>T (p.Thr52Met) http://identifiers.org/clinvar/239692 ^@ NM_004260.3(RECQL4):c.10C>T (p.Leu4=) http://identifiers.org/clinvar/241290 ^@ NM_018941.3(CLN8):c.94T>C (p.Phe32Leu) http://identifiers.org/clinvar/241287 ^@ NM_018941.3(CLN8):c.126C>T (p.Cys42=) http://identifiers.org/clinvar/241288 ^@ NM_018941.3(CLN8):c.273G>A (p.Leu91=) http://identifiers.org/clinvar/241289 ^@ NM_018941.3(CLN8):c.788G>A (p.Trp263Ter) http://identifiers.org/clinvar/240291 ^@ NM_006158.4(NEFL):c.780C>T (p.Asp260=) http://identifiers.org/clinvar/238124 ^@ NM_000553.4(WRN):c.15delA (p.Lys5Asnfs) http://identifiers.org/clinvar/238126 ^@ NM_000553.4(WRN):c.16T>C (p.Leu6=) http://identifiers.org/clinvar/238116 ^@ NM_000553.4(WRN):c.106C>T (p.Arg36Trp) http://identifiers.org/clinvar/238121 ^@ NM_000553.4(WRN):c.144A>G (p.Glu48=) http://identifiers.org/clinvar/238137 ^@ NM_000553.4(WRN):c.221C>T (p.Ser74Leu) http://identifiers.org/clinvar/238151 ^@ NM_000553.4(WRN):c.326G>A (p.Cys109Tyr) http://identifiers.org/clinvar/238153 ^@ NM_000553.4(WRN):c.339C>T (p.His113=) http://identifiers.org/clinvar/238158 ^@ NM_000553.4(WRN):c.355+4G>C http://identifiers.org/clinvar/238160 ^@ NM_000553.4(WRN):c.362C>G (p.Pro121Arg) http://identifiers.org/clinvar/238167 ^@ NM_000553.4(WRN):c.430C>G (p.Gln144Glu) http://identifiers.org/clinvar/238115 ^@ NM_000553.4(WRN):c.1027G>A (p.Glu343Lys) http://identifiers.org/clinvar/238117 ^@ NM_000553.4(WRN):c.1165delA (p.Arg389Glufs) http://identifiers.org/clinvar/238118 ^@ NM_000553.4(WRN):c.1275A>G (p.Leu425=) http://identifiers.org/clinvar/238119 ^@ NM_000553.4(WRN):c.1411T>A (p.Leu471Ile) http://identifiers.org/clinvar/238120 ^@ NM_000553.4(WRN):c.1439A>T (p.Glu480Val) http://identifiers.org/clinvar/238122 ^@ NM_000553.4(WRN):c.1513A>C (p.Thr505Pro) http://identifiers.org/clinvar/238123 ^@ NM_000553.4(WRN):c.1530A>G (p.Glu510=) http://identifiers.org/clinvar/238125 ^@ NM_000553.4(WRN):c.1652C>T (p.Pro551Leu) http://identifiers.org/clinvar/238127 ^@ NM_000553.4(WRN):c.1704T>C (p.Val568=) http://identifiers.org/clinvar/238128 ^@ NM_000553.4(WRN):c.1717A>G (p.Thr573Ala) http://identifiers.org/clinvar/238129 ^@ NM_000553.4(WRN):c.1725T>C (p.Tyr575=) http://identifiers.org/clinvar/238130 ^@ NM_000553.4(WRN):c.1788T>C (p.Ser596=) http://identifiers.org/clinvar/238131 ^@ NM_000553.4(WRN):c.1899A>T (p.Leu633Phe) http://identifiers.org/clinvar/238132 ^@ NM_000553.4(WRN):c.1953C>T (p.Gly651=) http://identifiers.org/clinvar/238133 ^@ NM_000553.4(WRN):c.2029G>A (p.Gly677Arg) http://identifiers.org/clinvar/238134 ^@ NM_000553.4(WRN):c.2067C>T (p.Ser689=) http://identifiers.org/clinvar/238135 ^@ NM_000553.4(WRN):c.2114C>T (p.Thr705Ile) http://identifiers.org/clinvar/238136 ^@ NM_000553.4(WRN):c.2131C>T (p.Arg711Trp) http://identifiers.org/clinvar/238138 ^@ NM_000553.4(WRN):c.2241T>G (p.Leu747=) http://identifiers.org/clinvar/238139 ^@ NM_000553.4(WRN):c.2342C>T (p.Thr781Ile) http://identifiers.org/clinvar/238140 ^@ NM_000553.4(WRN):c.2546_2547dupAT (p.Gln850Ilefs) http://identifiers.org/clinvar/238142 ^@ NM_000553.4(WRN):c.2596G>A (p.Val866Ile) http://identifiers.org/clinvar/238143 ^@ NM_000553.4(WRN):c.2735T>G (p.Ile912Ser) http://identifiers.org/clinvar/238141 ^@ NM_000553.4(WRN):c.2825+6G>T http://identifiers.org/clinvar/238144 ^@ NM_000553.4(WRN):c.2940G>C (p.Gly980=) http://identifiers.org/clinvar/238145 ^@ NM_000553.4(WRN):c.2980C>T (p.Leu994Phe) http://identifiers.org/clinvar/238146 ^@ NM_000553.4(WRN):c.3101A>T (p.Tyr1034Phe) http://identifiers.org/clinvar/238147 ^@ NM_000553.4(WRN):c.3139-9T>C http://identifiers.org/clinvar/238148 ^@ NM_000553.4(WRN):c.3209_3211delGTCinsTTT (p.Cys1070_Pro1071delinsPheSer) http://identifiers.org/clinvar/238149 ^@ NM_000553.4(WRN):c.3237G>A (p.Ser1079=) http://identifiers.org/clinvar/238150 ^@ NM_000553.4(WRN):c.3259A>G (p.Lys1087Glu) http://identifiers.org/clinvar/238152 ^@ NM_000553.4(WRN):c.3384-3T>C http://identifiers.org/clinvar/238154 ^@ NM_000553.4(WRN):c.3417T>C (p.Ser1139=) http://identifiers.org/clinvar/238155 ^@ NM_000553.4(WRN):c.3437C>T (p.Ser1146Leu) http://identifiers.org/clinvar/238156 ^@ NM_000553.4(WRN):c.3453G>A (p.Glu1151=) http://identifiers.org/clinvar/238157 ^@ NM_000553.4(WRN):c.3459+6G>C http://identifiers.org/clinvar/238159 ^@ NM_000553.4(WRN):c.3559A>G (p.Met1187Val) http://identifiers.org/clinvar/238161 ^@ NM_000553.4(WRN):c.3738G>A (p.Leu1246=) http://identifiers.org/clinvar/238162 ^@ NM_000553.4(WRN):c.3781A>G (p.Ile1261Val) http://identifiers.org/clinvar/238163 ^@ NM_000553.4(WRN):c.3819+5G>C http://identifiers.org/clinvar/238164 ^@ NM_000553.4(WRN):c.3972C>G (p.Pro1324=) http://identifiers.org/clinvar/238165 ^@ NM_000553.4(WRN):c.4203A>G (p.Ala1401=) http://identifiers.org/clinvar/238166 ^@ NM_000553.4(WRN):c.4248T>C (p.Asp1416=) http://identifiers.org/clinvar/240724 ^@ NM_007175.6(ERLIN2):c.557+8T>C http://identifiers.org/clinvar/241189 ^@ NM_017780.3(CHD7):c.1565G>T (p.Gly522Val) http://identifiers.org/clinvar/241190 ^@ NM_017780.3(CHD7):c.2831G>A (p.Arg944His) http://identifiers.org/clinvar/241191 ^@ NM_017780.3(CHD7):c.2836-2A>T http://identifiers.org/clinvar/241192 ^@ NM_017780.3(CHD7):c.3768C>G (p.Tyr1256Ter) http://identifiers.org/clinvar/241193 ^@ NM_017780.3(CHD7):c.8199T>C (p.Ala2733=) http://identifiers.org/clinvar/240074 ^@ NM_004820.4(CYP7B1):c.525G>A (p.Trp175Ter) http://identifiers.org/clinvar/240073 ^@ NM_004820.4(CYP7B1):c.321_324delACAA (p.Lys107Asnfs) http://identifiers.org/clinvar/240072 ^@ NM_004820.4(CYP7B1):c.197C>G (p.Pro66Arg) http://identifiers.org/clinvar/241292 ^@ NM_018972.2(GDAP1):c.614T>C (p.Leu205Ser) http://identifiers.org/clinvar/241293 ^@ NM_018972.2(GDAP1):c.694+5G>A http://identifiers.org/clinvar/241291 ^@ NM_018972.2(GDAP1):c.1045T>C (p.Leu349=) http://identifiers.org/clinvar/239194 ^@ NM_002485.4(NBN):c.2174A>C (p.Gln725Pro) http://identifiers.org/clinvar/239193 ^@ NM_002485.4(NBN):c.2094A>G (p.Lys698=) http://identifiers.org/clinvar/239192 ^@ NM_002485.4(NBN):c.2071G>A (p.Val691Ile) http://identifiers.org/clinvar/239191 ^@ NM_002485.4(NBN):c.2015C>T (p.Pro672Leu) http://identifiers.org/clinvar/239190 ^@ NM_002485.4(NBN):c.1966T>C (p.Leu656=) http://identifiers.org/clinvar/239189 ^@ NM_002485.4(NBN):c.1795A>G (p.Thr599Ala) http://identifiers.org/clinvar/239188 ^@ NM_002485.4(NBN):c.1761C>T (p.Val587=) http://identifiers.org/clinvar/239187 ^@ NM_002485.4(NBN):c.1738G>A (p.Val580Ile) http://identifiers.org/clinvar/239186 ^@ NM_002485.4(NBN):c.1415A>G (p.Asn472Ser) http://identifiers.org/clinvar/239185 ^@ NM_002485.4(NBN):c.1412A>G (p.Glu471Gly) http://identifiers.org/clinvar/239184 ^@ NM_002485.4(NBN):c.1230C>G (p.Ser410Arg) http://identifiers.org/clinvar/239183 ^@ NM_002485.4(NBN):c.1035C>A (p.Gly345=) http://identifiers.org/clinvar/239182 ^@ NM_002485.4(NBN):c.1023C>G (p.Ser341Arg) http://identifiers.org/clinvar/239211 ^@ NM_002485.4(NBN):c.943A>G (p.Ile315Val) http://identifiers.org/clinvar/239210 ^@ NM_002485.4(NBN):c.929T>C (p.Ile310Thr) http://identifiers.org/clinvar/239209 ^@ NM_002485.4(NBN):c.911C>T (p.Pro304Leu) http://identifiers.org/clinvar/239207 ^@ NM_002485.4(NBN):c.806G>A (p.Cys269Tyr) http://identifiers.org/clinvar/239206 ^@ NM_002485.4(NBN):c.769G>A (p.Glu257Lys) http://identifiers.org/clinvar/239205 ^@ NM_002485.4(NBN):c.694G>A (p.Ala232Thr) http://identifiers.org/clinvar/239204 ^@ NM_002485.4(NBN):c.693T>C (p.Asn231=) http://identifiers.org/clinvar/239203 ^@ NM_002485.4(NBN):c.678A>G (p.Thr226=) http://identifiers.org/clinvar/239200 ^@ NM_002485.4(NBN):c.480+10A>G http://identifiers.org/clinvar/239201 ^@ NM_002485.4(NBN):c.480+5G>A http://identifiers.org/clinvar/239198 ^@ NM_002485.4(NBN):c.371G>A (p.Gly124Glu) http://identifiers.org/clinvar/239208 ^@ NM_002485.4(NBN):c.80G>T (p.Gly27Val) http://identifiers.org/clinvar/239202 ^@ NM_002485.4(NBN):c.64G>A (p.Val22Ile) http://identifiers.org/clinvar/239199 ^@ NM_002485.4(NBN):c.45A>G (p.Pro15=) http://identifiers.org/clinvar/239197 ^@ NM_002485.4(NBN):c.37+7G>A http://identifiers.org/clinvar/239196 ^@ NM_002485.4(NBN):c.37+6G>C http://identifiers.org/clinvar/239195 ^@ NM_002485.4(NBN):c.34G>A (p.Gly12Arg) http://identifiers.org/clinvar/241999 ^@ NM_153704.5(TMEM67):c.2725G>C (p.Glu909Gln) http://identifiers.org/clinvar/236979 ^@ NM_000077.4(CDKN2A):c.-306-?_*477+?dup http://identifiers.org/clinvar/237062 ^@ NM_000136.2(FANCC):c.-78-?_250+?del http://identifiers.org/clinvar/240912 ^@ NM_014425.4(INVS):c.916A>G (p.Lys306Glu) http://identifiers.org/clinvar/240908 ^@ NM_014425.4(INVS):c.1038G>A (p.Ser346=) http://identifiers.org/clinvar/240909 ^@ NM_014425.4(INVS):c.1379T>G (p.Leu460Trp) http://identifiers.org/clinvar/240910 ^@ NM_014425.4(INVS):c.2116A>G (p.Arg706Gly) http://identifiers.org/clinvar/240911 ^@ NM_014425.4(INVS):c.2310C>T (p.His770=) http://identifiers.org/clinvar/238268 ^@ NM_001079802.1(FKTN):c.802G>T (p.Val268Leu) http://identifiers.org/clinvar/238269 ^@ NM_001079802.1(FKTN):c.929A>G (p.Asn310Ser) http://identifiers.org/clinvar/241839 ^@ NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) http://identifiers.org/clinvar/241836 ^@ NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) http://identifiers.org/clinvar/241837 ^@ NM_138361.5(LRSAM1):c.1830+6C>T http://identifiers.org/clinvar/241838 ^@ NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) http://identifiers.org/clinvar/239512 ^@ NM_003165.3(STXBP1):c.798T>G (p.Tyr266Ter) http://identifiers.org/clinvar/237025 ^@ NM_000118.3(ENG):c.1845G>T (p.Ser615=) http://identifiers.org/clinvar/237024 ^@ NM_000118.3(ENG):c.1762G>A (p.Val588Ile) http://identifiers.org/clinvar/237023 ^@ NM_000118.3(ENG):c.1672G>A (p.Gly558Arg) http://identifiers.org/clinvar/237022 ^@ NM_000118.3(ENG):c.1633G>A (p.Gly545Ser) http://identifiers.org/clinvar/237020 ^@ NM_000118.3(ENG):c.1533G>A (p.Ala511=) http://identifiers.org/clinvar/237018 ^@ NM_000118.3(ENG):c.1407G>A (p.Pro469=) http://identifiers.org/clinvar/237017 ^@ NM_000118.3(ENG):c.1273-4G>A http://identifiers.org/clinvar/237015 ^@ NM_000118.3(ENG):c.1135-7G>A http://identifiers.org/clinvar/237031 ^@ NM_000118.3(ENG):c.817-79C>A http://identifiers.org/clinvar/237028 ^@ NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) http://identifiers.org/clinvar/237027 ^@ NM_000118.3(ENG):c.447G>C (p.Trp149Cys) http://identifiers.org/clinvar/237026 ^@ NM_000118.3(ENG):c.219+22C>T http://identifiers.org/clinvar/237021 ^@ NM_000118.3(ENG):c.159C>T (p.Cys53=) http://identifiers.org/clinvar/237019 ^@ NM_000118.3(ENG):c.150G>A (p.Ser50=) http://identifiers.org/clinvar/237016 ^@ NM_000118.3(ENG):c.120C>T (p.Gly40=) http://identifiers.org/clinvar/237030 ^@ NM_000118.3(ENG):c.68-1G>A http://identifiers.org/clinvar/237029 ^@ NM_000118.3(ENG):c.67delA (p.Ser23Valfs) http://identifiers.org/clinvar/240852 ^@ NM_012127.2(CIZ1):c.2205C>T (p.Asp735=) http://identifiers.org/clinvar/240851 ^@ NM_012127.2(CIZ1):c.1170G>T (p.Gln390His) http://identifiers.org/clinvar/238538 ^@ NM_001130438.2(SPTAN1):c.1534T>G (p.Phe512Val) http://identifiers.org/clinvar/238539 ^@ NM_001130438.2(SPTAN1):c.5867T>C (p.Met1956Thr) http://identifiers.org/clinvar/238540 ^@ NM_001130438.2(SPTAN1):c.6763C>T (p.Arg2255Cys) http://identifiers.org/clinvar/238541 ^@ NM_001130438.2(SPTAN1):c.7090C>T (p.Leu2364=) http://identifiers.org/clinvar/237720 ^@ NM_000368.4(TSC1):c.3426C>T (p.Pro1142=) http://identifiers.org/clinvar/237719 ^@ NM_000368.4(TSC1):c.3416A>C (p.His1139Pro) http://identifiers.org/clinvar/237718 ^@ NM_000368.4(TSC1):c.3368_3369delAA (p.Lys1123Argfs) http://identifiers.org/clinvar/237717 ^@ NM_000368.4(TSC1):c.3207A>G (p.Glu1069=) http://identifiers.org/clinvar/237716 ^@ NM_000368.4(TSC1):c.3125G>A (p.Ser1042Asn) http://identifiers.org/clinvar/237715 ^@ NM_000368.4(TSC1):c.3005A>T (p.Asp1002Val) http://identifiers.org/clinvar/237714 ^@ NM_000368.4(TSC1):c.2968G>A (p.Glu990Lys) http://identifiers.org/clinvar/237713 ^@ NM_000368.4(TSC1):c.2901C>T (p.Gly967=) http://identifiers.org/clinvar/237712 ^@ NM_000368.4(TSC1):c.2814-9A>G http://identifiers.org/clinvar/237710 ^@ NM_000368.4(TSC1):c.2520G>A (p.Ser840=) http://identifiers.org/clinvar/237709 ^@ NM_000368.4(TSC1):c.2423C>T (p.Ala808Val) http://identifiers.org/clinvar/237708 ^@ NM_000368.4(TSC1):c.2195A>G (p.His732Arg) http://identifiers.org/clinvar/237707 ^@ NM_000368.4(TSC1):c.2064C>T (p.Ile688=) http://identifiers.org/clinvar/237706 ^@ NM_000368.4(TSC1):c.1998-1G>T http://identifiers.org/clinvar/237705 ^@ NM_000368.4(TSC1):c.1773G>A (p.Pro591=) http://identifiers.org/clinvar/237704 ^@ NM_000368.4(TSC1):c.1701G>C (p.Ala567=) http://identifiers.org/clinvar/237703 ^@ NM_000368.4(TSC1):c.1674C>T (p.Pro558=) http://identifiers.org/clinvar/237702 ^@ NM_000368.4(TSC1):c.1614C>T (p.Ser538=) http://identifiers.org/clinvar/237701 ^@ NM_000368.4(TSC1):c.1530_1531delCA (p.Asp510Glufs) http://identifiers.org/clinvar/237700 ^@ NM_000368.4(TSC1):c.1506C>T (p.Gly502=) http://identifiers.org/clinvar/237699 ^@ NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) http://identifiers.org/clinvar/237698 ^@ NM_000368.4(TSC1):c.1257C>G (p.Pro419=) http://identifiers.org/clinvar/237697 ^@ NM_000368.4(TSC1):c.1256C>A (p.Pro419His) http://identifiers.org/clinvar/237696 ^@ NM_000368.4(TSC1):c.1110A>T (p.Ser370=) http://identifiers.org/clinvar/237695 ^@ NM_000368.4(TSC1):c.1105C>A (p.Leu369Met) http://identifiers.org/clinvar/237694 ^@ NM_000368.4(TSC1):c.1065G>A (p.Met355Ile) http://identifiers.org/clinvar/237693 ^@ NM_000368.4(TSC1):c.1006C>A (p.Arg336=) http://identifiers.org/clinvar/237732 ^@ NM_000368.4(TSC1):c.915G>C (p.Gly305=) http://identifiers.org/clinvar/237731 ^@ NM_000368.4(TSC1):c.881C>A (p.Thr294Asn) http://identifiers.org/clinvar/237730 ^@ NM_000368.4(TSC1):c.876C>T (p.Val292=) http://identifiers.org/clinvar/237729 ^@ NM_000368.4(TSC1):c.850C>T (p.Arg284Cys) http://identifiers.org/clinvar/237728 ^@ NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) http://identifiers.org/clinvar/237727 ^@ NM_000368.4(TSC1):c.810A>G (p.Ser270=) http://identifiers.org/clinvar/237726 ^@ NM_000368.4(TSC1):c.809C>T (p.Ser270Leu) http://identifiers.org/clinvar/237725 ^@ NM_000368.4(TSC1):c.798C>T (p.Pro266=) http://identifiers.org/clinvar/237724 ^@ NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) http://identifiers.org/clinvar/237723 ^@ NM_000368.4(TSC1):c.593A>G (p.Asn198Ser) http://identifiers.org/clinvar/237722 ^@ NM_000368.4(TSC1):c.509-10C>T http://identifiers.org/clinvar/237721 ^@ NM_000368.4(TSC1):c.479G>A (p.Arg160His) http://identifiers.org/clinvar/237711 ^@ NM_000368.4(TSC1):c.273G>A (p.Ser91=) http://identifiers.org/clinvar/236995 ^@ NM_000093.4(COL5A1):c.110-10G>A http://identifiers.org/clinvar/237006 ^@ NM_000093.4(COL5A1):c.502A>G (p.Ile168Val) http://identifiers.org/clinvar/237007 ^@ NM_000093.4(COL5A1):c.528T>C (p.Asn176=) http://identifiers.org/clinvar/237008 ^@ NM_000093.4(COL5A1):c.761C>T (p.Ser254Leu) http://identifiers.org/clinvar/236996 ^@ NM_000093.4(COL5A1):c.1476C>T (p.Val492=) http://identifiers.org/clinvar/236997 ^@ NM_000093.4(COL5A1):c.1540G>A (p.Gly514Ser) http://identifiers.org/clinvar/236998 ^@ NM_000093.4(COL5A1):c.2386-6G>A http://identifiers.org/clinvar/236999 ^@ NM_000093.4(COL5A1):c.2676C>A (p.Gly892=) http://identifiers.org/clinvar/237000 ^@ NM_000093.4(COL5A1):c.3259-8C>T http://identifiers.org/clinvar/237001 ^@ NM_000093.4(COL5A1):c.3732C>T (p.Asp1244=) http://identifiers.org/clinvar/237002 ^@ NM_000093.4(COL5A1):c.4050C>T (p.Pro1350=) http://identifiers.org/clinvar/237003 ^@ NM_000093.4(COL5A1):c.4200C>T (p.Pro1400=) http://identifiers.org/clinvar/237004 ^@ NM_000093.4(COL5A1):c.4467G>T (p.Gly1489=) http://identifiers.org/clinvar/237005 ^@ NM_000093.4(COL5A1):c.4943A>G (p.Asp1648Gly) http://identifiers.org/clinvar/241304 ^@ NM_020822.2(KCNT1):c.522G>A (p.Met174Ile) http://identifiers.org/clinvar/241305 ^@ NM_020822.2(KCNT1):c.921C>T (p.Phe307=) http://identifiers.org/clinvar/241306 ^@ NM_020822.2(KCNT1):c.985C>T (p.Leu329=) http://identifiers.org/clinvar/241299 ^@ NM_020822.2(KCNT1):c.1056C>G (p.Leu352=) http://identifiers.org/clinvar/241300 ^@ NM_020822.2(KCNT1):c.2349+7C>T http://identifiers.org/clinvar/241301 ^@ NM_020822.2(KCNT1):c.2916C>T (p.Ile972=) http://identifiers.org/clinvar/241302 ^@ NM_020822.2(KCNT1):c.2997C>T (p.Asp999=) http://identifiers.org/clinvar/241303 ^@ NM_020822.2(KCNT1):c.3006G>A (p.Pro1002=) http://identifiers.org/clinvar/241171 ^@ NM_017617.4(NOTCH1):c.7515T>G (p.Pro2505=) http://identifiers.org/clinvar/241169 ^@ NM_017617.4(NOTCH1):c.7397C>T (p.Thr2466Met) http://identifiers.org/clinvar/241168 ^@ NM_017617.4(NOTCH1):c.7390C>T (p.Leu2464=) http://identifiers.org/clinvar/241167 ^@ NM_017617.4(NOTCH1):c.7338G>A (p.Leu2446=) http://identifiers.org/clinvar/241166 ^@ NM_017617.4(NOTCH1):c.7279G>A (p.Gly2427Ser) http://identifiers.org/clinvar/241165 ^@ NM_017617.4(NOTCH1):c.7250C>T (p.Pro2417Leu) http://identifiers.org/clinvar/241164 ^@ NM_017617.4(NOTCH1):c.7209G>A (p.Gln2403=) http://identifiers.org/clinvar/241163 ^@ NM_017617.4(NOTCH1):c.6870C>T (p.Ser2290=) http://identifiers.org/clinvar/241161 ^@ NM_017617.4(NOTCH1):c.6593C>T (p.Ser2198Leu) http://identifiers.org/clinvar/241160 ^@ NM_017617.4(NOTCH1):c.6376G>A (p.Gly2126Arg) http://identifiers.org/clinvar/241158 ^@ NM_017617.4(NOTCH1):c.6105C>T (p.Ala2035=) http://identifiers.org/clinvar/241157 ^@ NM_017617.4(NOTCH1):c.5988G>A (p.Thr1996=) http://identifiers.org/clinvar/241156 ^@ NM_017617.4(NOTCH1):c.5715C>T (p.Asp1905=) http://identifiers.org/clinvar/241155 ^@ NM_017617.4(NOTCH1):c.5679C>T (p.Gly1893=) http://identifiers.org/clinvar/241154 ^@ NM_017617.4(NOTCH1):c.5676G>A (p.Gly1892=) http://identifiers.org/clinvar/241153 ^@ NM_017617.4(NOTCH1):c.5605G>T (p.Ala1869Ser) http://identifiers.org/clinvar/241152 ^@ NM_017617.4(NOTCH1):c.5561G>A (p.Arg1854His) http://identifiers.org/clinvar/241151 ^@ NM_017617.4(NOTCH1):c.5535_5536delGCinsAA (p.Gln1846Lys) http://identifiers.org/clinvar/241150 ^@ NM_017617.4(NOTCH1):c.5505C>T (p.Asp1835=) http://identifiers.org/clinvar/241149 ^@ NM_017617.4(NOTCH1):c.5471G>A (p.Arg1824Gln) http://identifiers.org/clinvar/241148 ^@ NM_017617.4(NOTCH1):c.5226C>T (p.Ala1742=) http://identifiers.org/clinvar/241147 ^@ NM_017617.4(NOTCH1):c.5124G>T (p.Ser1708=) http://identifiers.org/clinvar/241146 ^@ NM_017617.4(NOTCH1):c.5073G>A (p.Gln1691=) http://identifiers.org/clinvar/241145 ^@ NM_017617.4(NOTCH1):c.4971C>T (p.Ser1657=) http://identifiers.org/clinvar/241144 ^@ NM_017617.4(NOTCH1):c.4915G>A (p.Ala1639Thr) http://identifiers.org/clinvar/241143 ^@ NM_017617.4(NOTCH1):c.4828G>T (p.Ala1610Ser) http://identifiers.org/clinvar/241142 ^@ NM_017617.4(NOTCH1):c.4827C>T (p.Asp1609=) http://identifiers.org/clinvar/241140 ^@ NM_017617.4(NOTCH1):c.4096G>A (p.Gly1366Ser) http://identifiers.org/clinvar/241139 ^@ NM_017617.4(NOTCH1):c.3835C>T (p.Arg1279Cys) http://identifiers.org/clinvar/241138 ^@ NM_017617.4(NOTCH1):c.3768G>T (p.Pro1256=) http://identifiers.org/clinvar/241137 ^@ NM_017617.4(NOTCH1):c.3644-4G>A http://identifiers.org/clinvar/241136 ^@ NM_017617.4(NOTCH1):c.3333C>T (p.Asp1111=) http://identifiers.org/clinvar/241135 ^@ NM_017617.4(NOTCH1):c.3271G>A (p.Gly1091Ser) http://identifiers.org/clinvar/241134 ^@ NM_017617.4(NOTCH1):c.3198G>A (p.Ser1066=) http://identifiers.org/clinvar/241133 ^@ NM_017617.4(NOTCH1):c.3114C>T (p.Asp1038=) http://identifiers.org/clinvar/241132 ^@ NM_017617.4(NOTCH1):c.3109C>G (p.Gln1037Glu) http://identifiers.org/clinvar/241131 ^@ NM_017617.4(NOTCH1):c.2951C>T (p.Thr984Met) http://identifiers.org/clinvar/241130 ^@ NM_017617.4(NOTCH1):c.2743C>G (p.Pro915Ala) http://identifiers.org/clinvar/241129 ^@ NM_017617.4(NOTCH1):c.2724C>T (p.Ile908=) http://identifiers.org/clinvar/241128 ^@ NM_017617.4(NOTCH1):c.2712C>T (p.Cys904=) http://identifiers.org/clinvar/241127 ^@ NM_017617.4(NOTCH1):c.2604C>T (p.Val868=) http://identifiers.org/clinvar/241125 ^@ NM_017617.4(NOTCH1):c.2496G>T (p.Pro832=) http://identifiers.org/clinvar/241124 ^@ NM_017617.4(NOTCH1):c.2388G>A (p.Ala796=) http://identifiers.org/clinvar/241123 ^@ NM_017617.4(NOTCH1):c.2207+10G>A http://identifiers.org/clinvar/241122 ^@ NM_017617.4(NOTCH1):c.2205C>T (p.Asn735=) http://identifiers.org/clinvar/241121 ^@ NM_017617.4(NOTCH1):c.2049G>A (p.Ala683=) http://identifiers.org/clinvar/241119 ^@ NM_017617.4(NOTCH1):c.1665G>A (p.Thr555=) http://identifiers.org/clinvar/241118 ^@ NM_017617.4(NOTCH1):c.1511G>A (p.Arg504His) http://identifiers.org/clinvar/241117 ^@ NM_017617.4(NOTCH1):c.1293C>T (p.Asn431=) http://identifiers.org/clinvar/241116 ^@ NM_017617.4(NOTCH1):c.1122C>T (p.Asp374=) http://identifiers.org/clinvar/241115 ^@ NM_017617.4(NOTCH1):c.1077C>T (p.Cys359=) http://identifiers.org/clinvar/241170 ^@ NM_017617.4(NOTCH1):c.743-4G>T http://identifiers.org/clinvar/241162 ^@ NM_017617.4(NOTCH1):c.663C>T (p.Pro221=) http://identifiers.org/clinvar/241141 ^@ NM_017617.4(NOTCH1):c.432C>T (p.Cys144=) http://identifiers.org/clinvar/241126 ^@ NM_017617.4(NOTCH1):c.256G>T (p.Ala86Ser) http://identifiers.org/clinvar/241159 ^@ NM_017617.4(NOTCH1):c.62-8C>T http://identifiers.org/clinvar/241120 ^@ NM_017617.4(NOTCH1):c.17_18delCGinsTT (p.Ala6Val) http://identifiers.org/clinvar/240834 ^@ NM_007327.3(GRIN1):c.246C>T (p.Leu82=) http://identifiers.org/clinvar/240835 ^@ NM_007327.3(GRIN1):c.525G>A (p.Ala175=) http://identifiers.org/clinvar/240833 ^@ NM_007327.3(GRIN1):c.2333+9C>A http://identifiers.org/clinvar/236990 ^@ NM_000077.4(CDKN2A):c.459C>T (p.Asp153=) http://identifiers.org/clinvar/236989 ^@ NM_000077.4(CDKN2A):c.402G>T (p.Ala134=) http://identifiers.org/clinvar/236987 ^@ NM_000077.4(CDKN2A):c.344T>G (p.Val115Gly) http://identifiers.org/clinvar/236986 ^@ NM_000077.4(CDKN2A):c.342C>G (p.Pro114=) http://identifiers.org/clinvar/236984 ^@ NM_000077.4(CDKN2A):c.260G>C (p.Arg87Pro) http://identifiers.org/clinvar/236983 ^@ NM_000077.4(CDKN2A):c.253G>A (p.Ala85Thr) http://identifiers.org/clinvar/236982 ^@ NM_000077.4(CDKN2A):c.183G>C (p.Glu61Asp) http://identifiers.org/clinvar/236981 ^@ NM_000077.4(CDKN2A):c.168C>A (p.Ser56Arg) http://identifiers.org/clinvar/236980 ^@ NM_000077.4(CDKN2A):c.150+1delG http://identifiers.org/clinvar/236992 ^@ NM_000077.4(CDKN2A):c.95T>C (p.Leu32Pro) http://identifiers.org/clinvar/236991 ^@ NM_000077.4(CDKN2A):c.83T>G (p.Val28Gly) http://identifiers.org/clinvar/236988 ^@ NM_000077.4(CDKN2A):c.35C>T (p.Ser12Leu) http://identifiers.org/clinvar/236985 ^@ NM_000077.4(CDKN2A):c.26T>A (p.Met9Lys) http://identifiers.org/clinvar/236978 ^@ NM_000077.4(CDKN2A):c.-19328G>A http://identifiers.org/clinvar/240856 ^@ NM_012144.3(DNAI1):c.389-6A>G http://identifiers.org/clinvar/240857 ^@ NM_012144.3(DNAI1):c.526_528delGAA (p.Glu176del) http://identifiers.org/clinvar/240858 ^@ NM_012144.3(DNAI1):c.912C>G (p.Tyr304Ter) http://identifiers.org/clinvar/240859 ^@ NM_012144.3(DNAI1):c.978A>C (p.Gln326His) http://identifiers.org/clinvar/240853 ^@ NM_012144.3(DNAI1):c.1307G>A (p.Trp436Ter) http://identifiers.org/clinvar/240854 ^@ NM_012144.3(DNAI1):c.1644G>A (p.Trp548Ter) http://identifiers.org/clinvar/240855 ^@ NM_012144.3(DNAI1):c.1929C>A (p.Ile643=) http://identifiers.org/clinvar/239964 ^@ NM_004629.1(FANCG):c.1545C>T (p.Ala515=) http://identifiers.org/clinvar/239963 ^@ NM_004629.1(FANCG):c.1454G>A (p.Arg485Gln) http://identifiers.org/clinvar/239970 ^@ NM_004629.1(FANCG):c.927C>G (p.Ala309=) http://identifiers.org/clinvar/239969 ^@ NM_004629.1(FANCG):c.881G>A (p.Gly294Glu) http://identifiers.org/clinvar/239968 ^@ NM_004629.1(FANCG):c.478G>A (p.Ala160Thr) http://identifiers.org/clinvar/239967 ^@ NM_004629.1(FANCG):c.421C>T (p.Arg141Cys) http://identifiers.org/clinvar/239966 ^@ NM_004629.1(FANCG):c.293G>A (p.Arg98Gln) http://identifiers.org/clinvar/239965 ^@ NM_004629.1(FANCG):c.238C>T (p.Leu80=) http://identifiers.org/clinvar/241329 ^@ NM_020944.2(GBA2):c.1552C>T (p.Arg518Trp) http://identifiers.org/clinvar/241328 ^@ NM_020944.2(GBA2):c.1420G>A (p.Ala474Thr) http://identifiers.org/clinvar/241327 ^@ NM_020944.2(GBA2):c.1196G>C (p.Arg399Pro) http://identifiers.org/clinvar/241331 ^@ NM_020944.2(GBA2):c.946G>A (p.Gly316Arg) http://identifiers.org/clinvar/241330 ^@ NM_020944.2(GBA2):c.786+6G>C http://identifiers.org/clinvar/237067 ^@ NM_000136.2(FANCC):c.1329+5delG http://identifiers.org/clinvar/237066 ^@ NM_000136.2(FANCC):c.1257C>A (p.Pro419=) http://identifiers.org/clinvar/237065 ^@ NM_000136.2(FANCC):c.1200C>T (p.Phe400=) http://identifiers.org/clinvar/237064 ^@ NM_000136.2(FANCC):c.1170C>G (p.Pro390=) http://identifiers.org/clinvar/237063 ^@ NM_000136.2(FANCC):c.1073-4G>A http://identifiers.org/clinvar/237079 ^@ NM_000136.2(FANCC):c.997-3C>T http://identifiers.org/clinvar/237078 ^@ NM_000136.2(FANCC):c.996+9dupT http://identifiers.org/clinvar/237077 ^@ NM_000136.2(FANCC):c.897-8T>C http://identifiers.org/clinvar/237076 ^@ NM_000136.2(FANCC):c.760A>G (p.Met254Val) http://identifiers.org/clinvar/237070 ^@ NM_000136.2(FANCC):c.654G>A (p.Glu218=) http://identifiers.org/clinvar/237075 ^@ NM_000136.2(FANCC):c.607C>T (p.Leu203Phe) http://identifiers.org/clinvar/237074 ^@ NM_000136.2(FANCC):c.521+1G>A http://identifiers.org/clinvar/237073 ^@ NM_000136.2(FANCC):c.457-7T>C http://identifiers.org/clinvar/237072 ^@ NM_000136.2(FANCC):c.433T>C (p.Tyr145His) http://identifiers.org/clinvar/237071 ^@ NM_000136.2(FANCC):c.345+8_345+9delAG http://identifiers.org/clinvar/237068 ^@ NM_000136.2(FANCC):c.166-5C>T http://identifiers.org/clinvar/237069 ^@ NM_000136.2(FANCC):c.29dupG (p.Cys10Trpfs) http://identifiers.org/clinvar/237499 ^@ NM_000264.3(PTCH1):c.4275G>A (p.Ser1425=) http://identifiers.org/clinvar/237498 ^@ NM_000264.3(PTCH1):c.4183G>A (p.Gly1395Arg) http://identifiers.org/clinvar/237497 ^@ NM_000264.3(PTCH1):c.4140C>T (p.Ala1380=) http://identifiers.org/clinvar/237496 ^@ NM_000264.3(PTCH1):c.4116G>A (p.Thr1372=) http://identifiers.org/clinvar/237495 ^@ NM_000264.3(PTCH1):c.4115C>T (p.Thr1372Met) http://identifiers.org/clinvar/237494 ^@ NM_000264.3(PTCH1):c.4086C>T (p.Pro1362=) http://identifiers.org/clinvar/237493 ^@ NM_000264.3(PTCH1):c.4025G>A (p.Arg1342His) http://identifiers.org/clinvar/237492 ^@ NM_000264.3(PTCH1):c.3955C>T (p.Arg1319Cys) http://identifiers.org/clinvar/237491 ^@ NM_000264.3(PTCH1):c.3948C>T (p.Tyr1316=) http://identifiers.org/clinvar/237490 ^@ NM_000264.3(PTCH1):c.3913G>T (p.Asp1305Tyr) http://identifiers.org/clinvar/237489 ^@ NM_000264.3(PTCH1):c.3908G>A (p.Arg1303His) http://identifiers.org/clinvar/237488 ^@ NM_000264.3(PTCH1):c.3876C>T (p.Ser1292=) http://identifiers.org/clinvar/237487 ^@ NM_000264.3(PTCH1):c.3687G>A (p.Thr1229=) http://identifiers.org/clinvar/237486 ^@ NM_000264.3(PTCH1):c.3666C>T (p.Asp1222=) http://identifiers.org/clinvar/237485 ^@ NM_000264.3(PTCH1):c.3645C>T (p.His1215=) http://identifiers.org/clinvar/237484 ^@ NM_000264.3(PTCH1):c.3641C>T (p.Thr1214Met) http://identifiers.org/clinvar/237483 ^@ NM_000264.3(PTCH1):c.3633C>T (p.Pro1211=) http://identifiers.org/clinvar/237482 ^@ NM_000264.3(PTCH1):c.3624C>T (p.Ala1208=) http://identifiers.org/clinvar/237481 ^@ NM_000264.3(PTCH1):c.3541T>C (p.Tyr1181His) http://identifiers.org/clinvar/237480 ^@ NM_000264.3(PTCH1):c.3460G>C (p.Ala1154Pro) http://identifiers.org/clinvar/237478 ^@ NM_000264.3(PTCH1):c.3394T>C (p.Ser1132Pro) http://identifiers.org/clinvar/237477 ^@ NM_000264.3(PTCH1):c.3307-7T>C http://identifiers.org/clinvar/237476 ^@ NM_000264.3(PTCH1):c.3219C>T (p.Leu1073=) http://identifiers.org/clinvar/237475 ^@ NM_000264.3(PTCH1):c.3183G>A (p.Ala1061=) http://identifiers.org/clinvar/237474 ^@ NM_000264.3(PTCH1):c.2988C>T (p.Thr996=) http://identifiers.org/clinvar/237473 ^@ NM_000264.3(PTCH1):c.2889C>G (p.Ile963Met) http://identifiers.org/clinvar/237472 ^@ NM_000264.3(PTCH1):c.2561-2A>T http://identifiers.org/clinvar/237471 ^@ NM_000264.3(PTCH1):c.2391C>A (p.Tyr797Ter) http://identifiers.org/clinvar/237470 ^@ NM_000264.3(PTCH1):c.2376T>C (p.Ala792=) http://identifiers.org/clinvar/237469 ^@ NM_000264.3(PTCH1):c.2303C>T (p.Thr768Ile) http://identifiers.org/clinvar/237468 ^@ NM_000264.3(PTCH1):c.2270T>C (p.Phe757Ser) http://identifiers.org/clinvar/237467 ^@ NM_000264.3(PTCH1):c.2074G>A (p.Val692Met) http://identifiers.org/clinvar/237466 ^@ NM_000264.3(PTCH1):c.2044C>T (p.Arg682Cys) http://identifiers.org/clinvar/237464 ^@ NM_000264.3(PTCH1):c.2016G>A (p.Thr672=) http://identifiers.org/clinvar/237463 ^@ NM_000264.3(PTCH1):c.1994G>A (p.Arg665His) http://identifiers.org/clinvar/237462 ^@ NM_000264.3(PTCH1):c.1989G>C (p.Gln663His) http://identifiers.org/clinvar/237461 ^@ NM_000264.3(PTCH1):c.1962G>T (p.Thr654=) http://identifiers.org/clinvar/237459 ^@ NM_000264.3(PTCH1):c.1809C>G (p.Arg603=) http://identifiers.org/clinvar/237457 ^@ NM_000264.3(PTCH1):c.1615delG (p.Glu539Serfs) http://identifiers.org/clinvar/237456 ^@ NM_000264.3(PTCH1):c.1503+3A>G http://identifiers.org/clinvar/237455 ^@ NM_000264.3(PTCH1):c.1488C>T (p.Asn496=) http://identifiers.org/clinvar/237454 ^@ NM_000264.3(PTCH1):c.1404C>T (p.Ala468=) http://identifiers.org/clinvar/237453 ^@ NM_000264.3(PTCH1):c.1328C>T (p.Ala443Val) http://identifiers.org/clinvar/237452 ^@ NM_000264.3(PTCH1):c.1285G>A (p.Asp429Asn) http://identifiers.org/clinvar/237451 ^@ NM_000264.3(PTCH1):c.1176G>A (p.Ala392=) http://identifiers.org/clinvar/237449 ^@ NM_000264.3(PTCH1):c.1080G>A (p.Leu360=) http://identifiers.org/clinvar/237448 ^@ NM_000264.3(PTCH1):c.1067+5G>C http://identifiers.org/clinvar/237447 ^@ NM_000264.3(PTCH1):c.1002T>C (p.Tyr334=) http://identifiers.org/clinvar/237506 ^@ NM_000264.3(PTCH1):c.945+9C>G http://identifiers.org/clinvar/237505 ^@ NM_000264.3(PTCH1):c.897G>A (p.Pro299=) http://identifiers.org/clinvar/237504 ^@ NM_000264.3(PTCH1):c.895C>T (p.Pro299Ser) http://identifiers.org/clinvar/237503 ^@ NM_000264.3(PTCH1):c.881G>C (p.Arg294Pro) http://identifiers.org/clinvar/237502 ^@ NM_000264.3(PTCH1):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/237501 ^@ NM_000264.3(PTCH1):c.645C>T (p.Tyr215=) http://identifiers.org/clinvar/237500 ^@ NM_000264.3(PTCH1):c.596T>G (p.Leu199Trp) http://identifiers.org/clinvar/237479 ^@ NM_000264.3(PTCH1):c.342G>A (p.Val114=) http://identifiers.org/clinvar/237465 ^@ NM_000264.3(PTCH1):c.202-2A>G http://identifiers.org/clinvar/237458 ^@ NM_000264.3(PTCH1):c.174C>T (p.Ala58=) http://identifiers.org/clinvar/237450 ^@ NM_000264.3(PTCH1):c.109G>C (p.Gly37Arg) http://identifiers.org/clinvar/237460 ^@ NM_000264.3(PTCH1):c.18C>T (p.Asn6=) http://identifiers.org/clinvar/241511 ^@ NM_024642.4(GALNT12):c.20G>T (p.Arg7Leu) http://identifiers.org/clinvar/241508 ^@ NM_024642.4(GALNT12):c.136_138delGGGinsAGA (p.Gly46Arg) http://identifiers.org/clinvar/241512 ^@ NM_024642.4(GALNT12):c.359G>C (p.Arg120Pro) http://identifiers.org/clinvar/241513 ^@ NM_024642.4(GALNT12):c.375C>T (p.Cys125=) http://identifiers.org/clinvar/241514 ^@ NM_024642.4(GALNT12):c.460C>T (p.Arg154Trp) http://identifiers.org/clinvar/241515 ^@ NM_024642.4(GALNT12):c.704A>G (p.Glu235Gly) http://identifiers.org/clinvar/241516 ^@ NM_024642.4(GALNT12):c.750G>A (p.Ser250=) http://identifiers.org/clinvar/241517 ^@ NM_024642.4(GALNT12):c.781G>A (p.Asp261Asn) http://identifiers.org/clinvar/241518 ^@ NM_024642.4(GALNT12):c.889C>T (p.Arg297Trp) http://identifiers.org/clinvar/241519 ^@ NM_024642.4(GALNT12):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/241520 ^@ NM_024642.4(GALNT12):c.917+9C>T http://identifiers.org/clinvar/241509 ^@ NM_024642.4(GALNT12):c.1551C>T (p.Ile517=) http://identifiers.org/clinvar/241510 ^@ NM_024642.4(GALNT12):c.1677C>T (p.Phe559=) http://identifiers.org/clinvar/239962 ^@ NM_004612.3(TGFBR1):c.49C>T (p.Leu17=) http://identifiers.org/clinvar/239961 ^@ NM_004612.3(TGFBR1):c.368C>T (p.Pro123Leu) http://identifiers.org/clinvar/239960 ^@ NM_004612.3(TGFBR1):c.1125A>G (p.Thr375=) http://identifiers.org/clinvar/239852 ^@ NM_004329.2(BMPR1A):c.-152-?_*1469+?del http://identifiers.org/clinvar/241088 ^@ NM_016169.3(SUFU):c.6G>T (p.Ala2=) http://identifiers.org/clinvar/241081 ^@ NM_016169.3(SUFU):c.12G>A (p.Leu4=) http://identifiers.org/clinvar/241079 ^@ NM_016169.3(SUFU):c.107C>T (p.Ala36Val) http://identifiers.org/clinvar/241083 ^@ NM_016169.3(SUFU):c.169A>G (p.Ile57Val) http://identifiers.org/clinvar/241084 ^@ NM_016169.3(SUFU):c.183-4G>A http://identifiers.org/clinvar/241085 ^@ NM_016169.3(SUFU):c.198C>T (p.Asp66=) http://identifiers.org/clinvar/241086 ^@ NM_016169.3(SUFU):c.210T>C (p.Tyr70=) http://identifiers.org/clinvar/241087 ^@ NM_016169.3(SUFU):c.506A>G (p.Asn169Ser) http://identifiers.org/clinvar/241089 ^@ NM_016169.3(SUFU):c.839G>A (p.Arg280Gln) http://identifiers.org/clinvar/241078 ^@ NM_016169.3(SUFU):c.1015C>T (p.Arg339Trp) http://identifiers.org/clinvar/241080 ^@ NM_016169.3(SUFU):c.1291T>C (p.Leu431=) http://identifiers.org/clinvar/241082 ^@ NM_016169.3(SUFU):c.1308C>T (p.Thr436=) http://identifiers.org/clinvar/238543 ^@ NM_001134363.2(RBM20):c.138_149dupGCCGCCCCAGCC (p.Pro52_Pro53insGlnProProPro) http://identifiers.org/clinvar/238548 ^@ NM_001134363.2(RBM20):c.247C>A (p.Leu83Ile) http://identifiers.org/clinvar/238555 ^@ NM_001134363.2(RBM20):c.352A>G (p.Thr118Ala) http://identifiers.org/clinvar/238556 ^@ NM_001134363.2(RBM20):c.882C>T (p.Ser294=) http://identifiers.org/clinvar/238542 ^@ NM_001134363.2(RBM20):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/238544 ^@ NM_001134363.2(RBM20):c.1511C>T (p.Ala504Val) http://identifiers.org/clinvar/238545 ^@ NM_001134363.2(RBM20):c.1784A>G (p.Lys595Arg) http://identifiers.org/clinvar/238546 ^@ NM_001134363.2(RBM20):c.2018G>A (p.Arg673Gln) http://identifiers.org/clinvar/238547 ^@ NM_001134363.2(RBM20):c.2303C>G (p.Ser768Trp) http://identifiers.org/clinvar/238549 ^@ NM_001134363.2(RBM20):c.2565A>C (p.Glu855Asp) http://identifiers.org/clinvar/238550 ^@ NM_001134363.2(RBM20):c.3076G>A (p.Glu1026Lys) http://identifiers.org/clinvar/238551 ^@ NM_001134363.2(RBM20):c.3119C>G (p.Ala1040Gly) http://identifiers.org/clinvar/238552 ^@ NM_001134363.2(RBM20):c.3245T>G (p.Leu1082Arg) http://identifiers.org/clinvar/238553 ^@ NM_001134363.2(RBM20):c.3268A>T (p.Ile1090Phe) http://identifiers.org/clinvar/238554 ^@ NM_001134363.2(RBM20):c.3504G>A (p.Leu1168=) http://identifiers.org/clinvar/240838 ^@ NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) http://identifiers.org/clinvar/239789 ^@ NM_004281.3(BAG3):c.167C>G (p.Ser56Cys) http://identifiers.org/clinvar/239790 ^@ NM_004281.3(BAG3):c.616A>C (p.Ile206Leu) http://identifiers.org/clinvar/239786 ^@ NM_004281.3(BAG3):c.1288G>A (p.Glu430Lys) http://identifiers.org/clinvar/239787 ^@ NM_004281.3(BAG3):c.1318G>A (p.Asp440Asn) http://identifiers.org/clinvar/239788 ^@ NM_004281.3(BAG3):c.1423G>A (p.Asp475Asn) http://identifiers.org/clinvar/242263 ^@ NM_201590.2(CACNB2):c.831G>A (p.Ser277=) http://identifiers.org/clinvar/242259 ^@ NM_201590.2(CACNB2):c.1016T>C (p.Ile339Thr) http://identifiers.org/clinvar/242260 ^@ NM_201590.2(CACNB2):c.1152T>C (p.Asp384=) http://identifiers.org/clinvar/242261 ^@ NM_201590.2(CACNB2):c.1359C>T (p.Ser453=) http://identifiers.org/clinvar/242262 ^@ NM_201590.2(CACNB2):c.1503T>G (p.Phe501Leu) http://identifiers.org/clinvar/240651 ^@ NM_006393.2(NEBL):c.2959A>G (p.Ile987Val) http://identifiers.org/clinvar/240649 ^@ NM_006393.2(NEBL):c.2757A>G (p.Glu919=) http://identifiers.org/clinvar/240648 ^@ NM_006393.2(NEBL):c.2724A>T (p.Ser908=) http://identifiers.org/clinvar/240646 ^@ NM_006393.2(NEBL):c.1546G>A (p.Glu516Lys) http://identifiers.org/clinvar/240644 ^@ NM_006393.2(NEBL):c.1008+4_1008+5invCA http://identifiers.org/clinvar/240652 ^@ NM_006393.2(NEBL):c.496G>C (p.Asp166His) http://identifiers.org/clinvar/240647 ^@ NM_006393.2(NEBL):c.214C>A (p.Pro72Thr) http://identifiers.org/clinvar/240645 ^@ NM_006393.2(NEBL):c.103G>A (p.Glu35Lys) http://identifiers.org/clinvar/240650 ^@ NM_006393.2(NEBL):c.27A>C (p.Ile9=) http://identifiers.org/clinvar/241264 ^@ NM_018076.4(ARMC4):c.2979C>T (p.Asp993=) http://identifiers.org/clinvar/241263 ^@ NM_018076.4(ARMC4):c.2839T>C (p.Ser947Pro) http://identifiers.org/clinvar/241262 ^@ NM_018076.4(ARMC4):c.2496-7A>G http://identifiers.org/clinvar/241261 ^@ NM_018076.4(ARMC4):c.2286G>A (p.Val762=) http://identifiers.org/clinvar/241260 ^@ NM_018076.4(ARMC4):c.2276A>T (p.Glu759Val) http://identifiers.org/clinvar/241258 ^@ NM_018076.4(ARMC4):c.1922T>C (p.Leu641Pro) http://identifiers.org/clinvar/241257 ^@ NM_018076.4(ARMC4):c.1353T>C (p.Tyr451=) http://identifiers.org/clinvar/241256 ^@ NM_018076.4(ARMC4):c.1272C>T (p.Ser424=) http://identifiers.org/clinvar/241255 ^@ NM_018076.4(ARMC4):c.1237C>G (p.Arg413Gly) http://identifiers.org/clinvar/241254 ^@ NM_018076.4(ARMC4):c.1017C>T (p.Leu339=) http://identifiers.org/clinvar/241267 ^@ NM_018076.4(ARMC4):c.995A>G (p.Lys332Arg) http://identifiers.org/clinvar/241266 ^@ NM_018076.4(ARMC4):c.883G>C (p.Val295Leu) http://identifiers.org/clinvar/241265 ^@ NM_018076.4(ARMC4):c.717G>A (p.Pro239=) http://identifiers.org/clinvar/241259 ^@ NM_018076.4(ARMC4):c.205G>C (p.Glu69Gln) http://identifiers.org/clinvar/241364 ^@ NM_020975.4(RET):c.57_65dupGCCGCTGCT (p.Leu22_Gly23insProLeuLeu) http://identifiers.org/clinvar/241335 ^@ NM_020975.4(RET):c.139G>A (p.Gly47Ser) http://identifiers.org/clinvar/241354 ^@ NM_020975.4(RET):c.296G>A (p.Arg99Gln) http://identifiers.org/clinvar/241363 ^@ NM_020975.4(RET):c.528T>G (p.Ile176Met) http://identifiers.org/clinvar/241365 ^@ NM_020975.4(RET):c.624G>T (p.Glu208Asp) http://identifiers.org/clinvar/241332 ^@ NM_020975.4(RET):c.1050C>T (p.Thr350=) http://identifiers.org/clinvar/241333 ^@ NM_020975.4(RET):c.1063+9G>A http://identifiers.org/clinvar/241334 ^@ NM_020975.4(RET):c.1092C>T (p.Ile364=) http://identifiers.org/clinvar/241336 ^@ NM_020975.4(RET):c.1462A>T (p.Thr488Ser) http://identifiers.org/clinvar/241337 ^@ NM_020975.4(RET):c.1522+35C>T http://identifiers.org/clinvar/241338 ^@ NM_020975.4(RET):c.1538C>T (p.Ala513Val) http://identifiers.org/clinvar/241339 ^@ NM_020975.4(RET):c.1777G>A (p.Gly593Arg) http://identifiers.org/clinvar/241340 ^@ NM_020975.4(RET):c.1866C>G (p.Pro622=) http://identifiers.org/clinvar/241341 ^@ NM_020975.4(RET):c.1915G>A (p.Ala639Thr) http://identifiers.org/clinvar/241342 ^@ NM_020975.4(RET):c.1921G>A (p.Ala641Thr) http://identifiers.org/clinvar/241343 ^@ NM_020975.4(RET):c.2052G>A (p.Pro684=) http://identifiers.org/clinvar/241344 ^@ NM_020975.4(RET):c.2085C>G (p.Pro695=) http://identifiers.org/clinvar/241345 ^@ NM_020975.4(RET):c.2287A>G (p.Asn763Asp) http://identifiers.org/clinvar/241346 ^@ NM_020975.4(RET):c.2397G>C (p.Pro799=) http://identifiers.org/clinvar/241347 ^@ NM_020975.4(RET):c.2427C>T (p.Tyr809=) http://identifiers.org/clinvar/241348 ^@ NM_020975.4(RET):c.2538C>T (p.Leu846=) http://identifiers.org/clinvar/241349 ^@ NM_020975.4(RET):c.2554A>G (p.Ile852Val) http://identifiers.org/clinvar/241350 ^@ NM_020975.4(RET):c.2607+3G>A http://identifiers.org/clinvar/241351 ^@ NM_020975.4(RET):c.2742A>G (p.Pro914=) http://identifiers.org/clinvar/241352 ^@ NM_020975.4(RET):c.2802-4G>T http://identifiers.org/clinvar/241353 ^@ NM_020975.4(RET):c.2898C>T (p.Thr966=) http://identifiers.org/clinvar/241355 ^@ NM_020975.4(RET):c.3005G>A (p.Ser1002Asn) http://identifiers.org/clinvar/241356 ^@ NM_020975.4(RET):c.3113C>T (p.Thr1038Ile) http://identifiers.org/clinvar/241357 ^@ NM_020975.4(RET):c.3142C>T (p.Leu1048Phe) http://identifiers.org/clinvar/241358 ^@ NM_020975.4(RET):c.3149G>A (p.Arg1050Gln) http://identifiers.org/clinvar/241359 ^@ NM_020975.4(RET):c.3201G>A (p.Pro1067=) http://identifiers.org/clinvar/241360 ^@ NM_020975.4(RET):c.3203delA (p.Asn1068Thrfs) http://identifiers.org/clinvar/241361 ^@ NM_020975.4(RET):c.3247A>G (p.Thr1083Ala) http://identifiers.org/clinvar/241362 ^@ NM_020975.4(RET):c.3333G>A (p.Thr1111=) http://identifiers.org/clinvar/240641 ^@ NM_006258.3(PRKG1):c.39G>A (p.Glu13=) http://identifiers.org/clinvar/240642 ^@ NM_006258.3(PRKG1):c.426C>T (p.Asp142=) http://identifiers.org/clinvar/240638 ^@ NM_006258.3(PRKG1):c.1071A>G (p.Lys357=) http://identifiers.org/clinvar/240639 ^@ NM_006258.3(PRKG1):c.1080T>C (p.Tyr360=) http://identifiers.org/clinvar/240640 ^@ NM_006258.3(PRKG1):c.1174-9T>G http://identifiers.org/clinvar/240869 ^@ NM_013266.3(CTNNA3):c.2553G>A (p.Lys851=) http://identifiers.org/clinvar/240867 ^@ NM_013266.3(CTNNA3):c.1978-9_1978-8delAT http://identifiers.org/clinvar/240866 ^@ NM_013266.3(CTNNA3):c.1900G>A (p.Glu634Lys) http://identifiers.org/clinvar/240865 ^@ NM_013266.3(CTNNA3):c.1865G>A (p.Cys622Tyr) http://identifiers.org/clinvar/240864 ^@ NM_013266.3(CTNNA3):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/240863 ^@ NM_013266.3(CTNNA3):c.1047C>T (p.Asn349=) http://identifiers.org/clinvar/240874 ^@ NM_013266.3(CTNNA3):c.580-8C>T http://identifiers.org/clinvar/240873 ^@ NM_013266.3(CTNNA3):c.578A>G (p.Gln193Arg) http://identifiers.org/clinvar/240872 ^@ NM_013266.3(CTNNA3):c.478T>A (p.Ser160Thr) http://identifiers.org/clinvar/240871 ^@ NM_013266.3(CTNNA3):c.399G>A (p.Thr133=) http://identifiers.org/clinvar/240868 ^@ NM_013266.3(CTNNA3):c.213C>G (p.Asp71Glu) http://identifiers.org/clinvar/240870 ^@ NM_013266.3(CTNNA3):c.33C>T (p.Ile11=) http://identifiers.org/clinvar/241711 ^@ NM_032578.3(MYPN):c.602A>C (p.Asp201Ala) http://identifiers.org/clinvar/241706 ^@ NM_032578.3(MYPN):c.1226G>A (p.Arg409His) http://identifiers.org/clinvar/241707 ^@ NM_032578.3(MYPN):c.1563C>T (p.Tyr521=) http://identifiers.org/clinvar/241708 ^@ NM_032578.3(MYPN):c.1851G>A (p.Val617=) http://identifiers.org/clinvar/241709 ^@ NM_032578.3(MYPN):c.3146G>A (p.Gly1049Asp) http://identifiers.org/clinvar/241710 ^@ NM_032578.3(MYPN):c.3548T>C (p.Val1183Ala) http://identifiers.org/clinvar/241245 ^@ NM_018055.4(NODAL):c.891+1G>A http://identifiers.org/clinvar/240882 ^@ NM_014000.2(VCL):c.45G>A (p.Pro15=) http://identifiers.org/clinvar/240881 ^@ NM_014000.2(VCL):c.424T>C (p.Leu142=) http://identifiers.org/clinvar/240875 ^@ NM_014000.2(VCL):c.1115G>A (p.Arg372His) http://identifiers.org/clinvar/240876 ^@ NM_014000.2(VCL):c.1223T>C (p.Ile408Thr) http://identifiers.org/clinvar/240877 ^@ NM_014000.2(VCL):c.1308G>A (p.Gly436=) http://identifiers.org/clinvar/240878 ^@ NM_014000.2(VCL):c.1767G>A (p.Glu589=) http://identifiers.org/clinvar/240879 ^@ NM_014000.2(VCL):c.2472C>G (p.Ile824Met) http://identifiers.org/clinvar/240880 ^@ NM_014000.2(VCL):c.2853delT (p.Glu952Serfs) http://identifiers.org/clinvar/241728 ^@ NM_033022.3(RPS24):c.371A>G (p.Asn124Ser) http://identifiers.org/clinvar/240720 ^@ NM_007078.2(LDB3):c.450C>T (p.Ser150=) http://identifiers.org/clinvar/240718 ^@ NM_007078.2(LDB3):c.1381T>G (p.Tyr461Asp) http://identifiers.org/clinvar/240719 ^@ NM_007078.2(LDB3):c.1851T>C (p.Ile617=) http://identifiers.org/clinvar/239861 ^@ NM_004329.2(BMPR1A):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/239853 ^@ NM_004329.2(BMPR1A):c.117C>G (p.Ser39=) http://identifiers.org/clinvar/239859 ^@ NM_004329.2(BMPR1A):c.229A>G (p.Ile77Val) http://identifiers.org/clinvar/239860 ^@ NM_004329.2(BMPR1A):c.271C>A (p.Gln91Lys) http://identifiers.org/clinvar/239862 ^@ NM_004329.2(BMPR1A):c.505A>T (p.Ile169Phe) http://identifiers.org/clinvar/239863 ^@ NM_004329.2(BMPR1A):c.509_511delTCT (p.Phe170del) http://identifiers.org/clinvar/239864 ^@ NM_004329.2(BMPR1A):c.604G>T (p.Val202Phe) http://identifiers.org/clinvar/239865 ^@ NM_004329.2(BMPR1A):c.656G>A (p.Gly219Glu) http://identifiers.org/clinvar/239866 ^@ NM_004329.2(BMPR1A):c.675+1G>C http://identifiers.org/clinvar/239868 ^@ NM_004329.2(BMPR1A):c.753C>T (p.Gly251=) http://identifiers.org/clinvar/239867 ^@ NM_004329.2(BMPR1A):c.771delA (p.Val258Trpfs) http://identifiers.org/clinvar/239869 ^@ NM_004329.2(BMPR1A):c.850C>T (p.Arg284Cys) http://identifiers.org/clinvar/239854 ^@ NM_004329.2(BMPR1A):c.1190C>T (p.Pro397Leu) http://identifiers.org/clinvar/239855 ^@ NM_004329.2(BMPR1A):c.1342+5G>A http://identifiers.org/clinvar/239856 ^@ NM_004329.2(BMPR1A):c.1511G>A (p.Trp504Ter) http://identifiers.org/clinvar/239857 ^@ NM_004329.2(BMPR1A):c.1520A>G (p.Asn507Ser) http://identifiers.org/clinvar/239858 ^@ NM_004329.2(BMPR1A):c.1568A>G (p.Lys523Arg) http://identifiers.org/clinvar/237648 ^@ NM_000314.6(PTEN):c.53delA (p.Glu18Glyfs) http://identifiers.org/clinvar/237640 ^@ NM_000314.6(PTEN):c.132dupC (p.Val45Argfs) http://identifiers.org/clinvar/237641 ^@ NM_000314.6(PTEN):c.165-9T>G http://identifiers.org/clinvar/237642 ^@ NM_000314.6(PTEN):c.177A>G (p.Ser59=) http://identifiers.org/clinvar/237643 ^@ NM_000314.6(PTEN):c.195C>G (p.Tyr65Ter) http://identifiers.org/clinvar/237644 ^@ NM_000314.6(PTEN):c.209+2T>A http://identifiers.org/clinvar/237645 ^@ NM_000314.6(PTEN):c.409_411delGCAinsTTT (p.Ala137Phe) http://identifiers.org/clinvar/237646 ^@ NM_000314.6(PTEN):c.425G>A (p.Arg142Gln) http://identifiers.org/clinvar/237647 ^@ NM_000314.6(PTEN):c.426G>C (p.Arg142=) http://identifiers.org/clinvar/237649 ^@ NM_000314.6(PTEN):c.545dupT (p.Leu182Phefs) http://identifiers.org/clinvar/237651 ^@ NM_000314.6(PTEN):c.596T>A (p.Met199Lys) http://identifiers.org/clinvar/237652 ^@ NM_000314.6(PTEN):c.664G>T (p.Val222Leu) http://identifiers.org/clinvar/237650 ^@ NM_000314.6(PTEN):c.757_758dupAT (p.Lys254Serfs) http://identifiers.org/clinvar/237653 ^@ NM_000314.6(PTEN):c.759C>A (p.Ile253=) http://identifiers.org/clinvar/237654 ^@ NM_000314.6(PTEN):c.877G>T (p.Gly293Ter) http://identifiers.org/clinvar/237655 ^@ NM_000314.6(PTEN):c.909T>A (p.Ile303=) http://identifiers.org/clinvar/237656 ^@ NM_000314.6(PTEN):c.934G>A (p.Asp312Asn) http://identifiers.org/clinvar/237657 ^@ NM_000314.6(PTEN):c.939G>A (p.Lys313=) http://identifiers.org/clinvar/237637 ^@ NM_000314.6(PTEN):c.1057_1059delGAG (p.Glu353del) http://identifiers.org/clinvar/237638 ^@ NM_000314.6(PTEN):c.1058A>G (p.Glu353Gly) http://identifiers.org/clinvar/237639 ^@ NM_000314.6(PTEN):c.1093G>A (p.Val365Ile) http://identifiers.org/clinvar/237636 ^@ NM_000314.6(PTEN):c.*75delT http://identifiers.org/clinvar/239035 ^@ NM_001613.2(ACTA2):c.1132T>C (p.Ter378Gln) http://identifiers.org/clinvar/239037 ^@ NM_001613.2(ACTA2):c.324G>T (p.Thr108=) http://identifiers.org/clinvar/239036 ^@ NM_001613.2(ACTA2):c.138G>A (p.Met46Ile) http://identifiers.org/clinvar/240093 ^@ NM_005097.3(LGI1):c.657C>T (p.Phe219=) http://identifiers.org/clinvar/238205 ^@ NM_001002261.3(ZFYVE27):c.126C>T (p.Leu42=) http://identifiers.org/clinvar/239459 ^@ NM_003002.3(SDHD):c.-84-?_*831+?del http://identifiers.org/clinvar/241608 ^@ NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) http://identifiers.org/clinvar/238270 ^@ NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) http://identifiers.org/clinvar/238271 ^@ NM_001080463.1(DYNC2H1):c.5114T>C (p.Leu1705Pro) http://identifiers.org/clinvar/238272 ^@ NM_001080463.1(DYNC2H1):c.5495C>A (p.Ser1832Ter) http://identifiers.org/clinvar/238274 ^@ NM_001080463.1(DYNC2H1):c.7495C>G (p.Leu2499Val) http://identifiers.org/clinvar/236796 ^@ NM_000051.3(ATM):c.89T>G (p.Phe30Cys) http://identifiers.org/clinvar/236681 ^@ NM_000051.3(ATM):c.192delA (p.Leu64Phefs) http://identifiers.org/clinvar/236687 ^@ NM_000051.3(ATM):c.232G>A (p.Ala78Thr) http://identifiers.org/clinvar/236694 ^@ NM_000051.3(ATM):c.289delA (p.Ile97Serfs) http://identifiers.org/clinvar/236697 ^@ NM_000051.3(ATM):c.300G>A (p.Leu100=) http://identifiers.org/clinvar/236700 ^@ NM_000051.3(ATM):c.317A>G (p.Lys106Arg) http://identifiers.org/clinvar/236703 ^@ NM_000051.3(ATM):c.331+8A>G http://identifiers.org/clinvar/236709 ^@ NM_000051.3(ATM):c.368A>G (p.Tyr123Cys) http://identifiers.org/clinvar/236726 ^@ NM_000051.3(ATM):c.493T>C (p.Leu165=) http://identifiers.org/clinvar/236747 ^@ NM_000051.3(ATM):c.612A>G (p.Gly204=) http://identifiers.org/clinvar/236751 ^@ NM_000051.3(ATM):c.640T>C (p.Ser214Pro) http://identifiers.org/clinvar/236753 ^@ NM_000051.3(ATM):c.649A>T (p.Ile217Phe) http://identifiers.org/clinvar/236758 ^@ NM_000051.3(ATM):c.672G>T (p.Lys224Asn) http://identifiers.org/clinvar/236798 ^@ NM_000051.3(ATM):c.986G>A (p.Arg329Lys) http://identifiers.org/clinvar/236664 ^@ NM_000051.3(ATM):c.1020C>T (p.Ala340=) http://identifiers.org/clinvar/236665 ^@ NM_000051.3(ATM):c.1049C>T (p.Ala350Val) http://identifiers.org/clinvar/236666 ^@ NM_000051.3(ATM):c.1079A>G (p.Asp360Gly) http://identifiers.org/clinvar/236661 ^@ NM_000051.3(ATM):c.1095_1101delGATTTCTinsA (p.Ile366_Ser367del) http://identifiers.org/clinvar/236668 ^@ NM_000051.3(ATM):c.1152C>G (p.Cys384Trp) http://identifiers.org/clinvar/236669 ^@ NM_000051.3(ATM):c.1157G>A (p.Arg386Lys) http://identifiers.org/clinvar/236670 ^@ NM_000051.3(ATM):c.1175G>T (p.Gly392Val) http://identifiers.org/clinvar/236667 ^@ NM_000051.3(ATM):c.1236-6_1236-5insC http://identifiers.org/clinvar/236671 ^@ NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) http://identifiers.org/clinvar/236672 ^@ NM_000051.3(ATM):c.1369C>G (p.Arg457Gly) http://identifiers.org/clinvar/236673 ^@ NM_000051.3(ATM):c.1468A>G (p.Ile490Val) http://identifiers.org/clinvar/236674 ^@ NM_000051.3(ATM):c.1550T>C (p.Val517Ala) http://identifiers.org/clinvar/236675 ^@ NM_000051.3(ATM):c.1634C>T (p.Ala545Val) http://identifiers.org/clinvar/236676 ^@ NM_000051.3(ATM):c.1642A>G (p.Thr548Ala) http://identifiers.org/clinvar/236677 ^@ NM_000051.3(ATM):c.1701T>C (p.Asn567=) http://identifiers.org/clinvar/236678 ^@ NM_000051.3(ATM):c.1704A>C (p.Arg568Ser) http://identifiers.org/clinvar/236679 ^@ NM_000051.3(ATM):c.1819G>A (p.Val607Ile) http://identifiers.org/clinvar/236680 ^@ NM_000051.3(ATM):c.1903C>T (p.His635Tyr) http://identifiers.org/clinvar/236682 ^@ NM_000051.3(ATM):c.2075G>A (p.Arg692His) http://identifiers.org/clinvar/236683 ^@ NM_000051.3(ATM):c.2169G>T (p.Val723=) http://identifiers.org/clinvar/236684 ^@ NM_000051.3(ATM):c.2208T>G (p.Ala736=) http://identifiers.org/clinvar/236685 ^@ NM_000051.3(ATM):c.2222A>G (p.Tyr741Cys) http://identifiers.org/clinvar/236686 ^@ NM_000051.3(ATM):c.2250+7G>A http://identifiers.org/clinvar/236688 ^@ NM_000051.3(ATM):c.2373C>T (p.Thr791=) http://identifiers.org/clinvar/236690 ^@ NM_000051.3(ATM):c.2466+2T>A http://identifiers.org/clinvar/236691 ^@ NM_000051.3(ATM):c.2467-7C>T http://identifiers.org/clinvar/236692 ^@ NM_000051.3(ATM):c.2579A>T (p.Asp860Val) http://identifiers.org/clinvar/236693 ^@ NM_000051.3(ATM):c.2691C>G (p.Phe897Leu) http://identifiers.org/clinvar/236695 ^@ NM_000051.3(ATM):c.2925T>C (p.Asn975=) http://identifiers.org/clinvar/236696 ^@ NM_000051.3(ATM):c.2978A>G (p.His993Arg) http://identifiers.org/clinvar/236698 ^@ NM_000051.3(ATM):c.3120G>C (p.Met1040Ile) http://identifiers.org/clinvar/236699 ^@ NM_000051.3(ATM):c.3153+7_3153+8insA http://identifiers.org/clinvar/236701 ^@ NM_000051.3(ATM):c.3194G>A (p.Gly1065Glu) http://identifiers.org/clinvar/236702 ^@ NM_000051.3(ATM):c.3207T>C (p.Pro1069=) http://identifiers.org/clinvar/236704 ^@ NM_000051.3(ATM):c.3471G>A (p.Leu1157=) http://identifiers.org/clinvar/236705 ^@ NM_000051.3(ATM):c.3495C>A (p.Ser1165Arg) http://identifiers.org/clinvar/236706 ^@ NM_000051.3(ATM):c.3577-6G>A http://identifiers.org/clinvar/236707 ^@ NM_000051.3(ATM):c.3614G>A (p.Arg1205His) http://identifiers.org/clinvar/236708 ^@ NM_000051.3(ATM):c.3639T>C (p.His1213=) http://identifiers.org/clinvar/236710 ^@ NM_000051.3(ATM):c.3747-10C>G http://identifiers.org/clinvar/236711 ^@ NM_000051.3(ATM):c.3874G>C (p.Val1292Leu) http://identifiers.org/clinvar/236712 ^@ NM_000051.3(ATM):c.3964C>T (p.Leu1322Phe) http://identifiers.org/clinvar/236713 ^@ NM_000051.3(ATM):c.3977A>G (p.Asn1326Ser) http://identifiers.org/clinvar/236714 ^@ NM_000051.3(ATM):c.3993+6G>T http://identifiers.org/clinvar/236715 ^@ NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) http://identifiers.org/clinvar/236716 ^@ NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) http://identifiers.org/clinvar/236717 ^@ NM_000051.3(ATM):c.4436+10A>G http://identifiers.org/clinvar/236718 ^@ NM_000051.3(ATM):c.4484G>T (p.Cys1495Phe) http://identifiers.org/clinvar/236719 ^@ NM_000051.3(ATM):c.4491A>G (p.Leu1497=) http://identifiers.org/clinvar/236720 ^@ NM_000051.3(ATM):c.4515C>G (p.Ala1505=) http://identifiers.org/clinvar/236721 ^@ NM_000051.3(ATM):c.4553A>C (p.His1518Pro) http://identifiers.org/clinvar/236722 ^@ NM_000051.3(ATM):c.4776+10delA http://identifiers.org/clinvar/236723 ^@ NM_000051.3(ATM):c.4784A>G (p.Asn1595Ser) http://identifiers.org/clinvar/236724 ^@ NM_000051.3(ATM):c.4825A>G (p.Thr1609Ala) http://identifiers.org/clinvar/236725 ^@ NM_000051.3(ATM):c.4910-6T>G http://identifiers.org/clinvar/236727 ^@ NM_000051.3(ATM):c.5018G>A (p.Ser1673Asn) http://identifiers.org/clinvar/236728 ^@ NM_000051.3(ATM):c.5033T>A (p.Val1678Glu) http://identifiers.org/clinvar/236729 ^@ NM_000051.3(ATM):c.5057T>C (p.Ile1686Thr) http://identifiers.org/clinvar/236730 ^@ NM_000051.3(ATM):c.5144T>C (p.Leu1715Pro) http://identifiers.org/clinvar/236731 ^@ NM_000051.3(ATM):c.5203dupA (p.Thr1735Asnfs) http://identifiers.org/clinvar/236732 ^@ NM_000051.3(ATM):c.5229A>G (p.Thr1743=) http://identifiers.org/clinvar/236733 ^@ NM_000051.3(ATM):c.5258A>G (p.Tyr1753Cys) http://identifiers.org/clinvar/236734 ^@ NM_000051.3(ATM):c.5262G>T (p.Lys1754Asn) http://identifiers.org/clinvar/236735 ^@ NM_000051.3(ATM):c.5319+6_5319+7delTT http://identifiers.org/clinvar/236736 ^@ NM_000051.3(ATM):c.5345A>G (p.Lys1782Arg) http://identifiers.org/clinvar/236737 ^@ NM_000051.3(ATM):c.5405A>G (p.His1802Arg) http://identifiers.org/clinvar/236738 ^@ NM_000051.3(ATM):c.5443delG (p.Asp1815Thrfs) http://identifiers.org/clinvar/236739 ^@ NM_000051.3(ATM):c.5496+7_5496+9delAGA http://identifiers.org/clinvar/236740 ^@ NM_000051.3(ATM):c.5497-9A>G http://identifiers.org/clinvar/236741 ^@ NM_000051.3(ATM):c.5549T>A (p.Leu1850Ter) http://identifiers.org/clinvar/236742 ^@ NM_000051.3(ATM):c.5631C>G (p.Phe1877Leu) http://identifiers.org/clinvar/236743 ^@ NM_000051.3(ATM):c.5776A>G (p.Thr1926Ala) http://identifiers.org/clinvar/236744 ^@ NM_000051.3(ATM):c.5951C>G (p.Thr1984Arg) http://identifiers.org/clinvar/236745 ^@ NM_000051.3(ATM):c.6009T>C (p.Asp2003=) http://identifiers.org/clinvar/236746 ^@ NM_000051.3(ATM):c.6095+8G>T http://identifiers.org/clinvar/236748 ^@ NM_000051.3(ATM):c.6140T>G (p.Val2047Gly) http://identifiers.org/clinvar/236749 ^@ NM_000051.3(ATM):c.6239_6240delAT (p.Tyr2080Phefs) http://identifiers.org/clinvar/236750 ^@ NM_000051.3(ATM):c.6373delC (p.His2125Metfs) http://identifiers.org/clinvar/236752 ^@ NM_000051.3(ATM):c.6452+6A>G http://identifiers.org/clinvar/236754 ^@ NM_000051.3(ATM):c.6536T>C (p.Ile2179Thr) http://identifiers.org/clinvar/236755 ^@ NM_000051.3(ATM):c.6540A>G (p.Gly2180=) http://identifiers.org/clinvar/236756 ^@ NM_000051.3(ATM):c.6667delA (p.Ile2223Serfs) http://identifiers.org/clinvar/236757 ^@ NM_000051.3(ATM):c.6726A>G (p.Ser2242=) http://identifiers.org/clinvar/236759 ^@ NM_000051.3(ATM):c.6891A>G (p.Gln2297=) http://identifiers.org/clinvar/236760 ^@ NM_000051.3(ATM):c.6916_6917delAG (p.Leu2307Cysfs) http://identifiers.org/clinvar/236761 ^@ NM_000051.3(ATM):c.7011T>G (p.Cys2337Trp) http://identifiers.org/clinvar/236762 ^@ NM_000051.3(ATM):c.7023T>C (p.Cys2341=) http://identifiers.org/clinvar/236763 ^@ NM_000051.3(ATM):c.7091delC (p.Ala2364Glufs) http://identifiers.org/clinvar/236764 ^@ NM_000051.3(ATM):c.7125T>C (p.Ser2375=) http://identifiers.org/clinvar/236765 ^@ NM_000051.3(ATM):c.7140A>G (p.Arg2380=) http://identifiers.org/clinvar/236766 ^@ NM_000051.3(ATM):c.7155G>A (p.Lys2385=) http://identifiers.org/clinvar/236767 ^@ NM_000051.3(ATM):c.7209C>T (p.Asn2403=) http://identifiers.org/clinvar/236768 ^@ NM_000051.3(ATM):c.7244C>G (p.Ala2415Gly) http://identifiers.org/clinvar/236769 ^@ NM_000051.3(ATM):c.7308-9C>T http://identifiers.org/clinvar/236770 ^@ NM_000051.3(ATM):c.7317A>G (p.Val2439=) http://identifiers.org/clinvar/236771 ^@ NM_000051.3(ATM):c.7384T>C (p.Phe2462Leu) http://identifiers.org/clinvar/236772 ^@ NM_000051.3(ATM):c.7399G>A (p.Val2467Ile) http://identifiers.org/clinvar/236773 ^@ NM_000051.3(ATM):c.7409A>G (p.Tyr2470Cys) http://identifiers.org/clinvar/236774 ^@ NM_000051.3(ATM):c.7457G>A (p.Arg2486Gln) http://identifiers.org/clinvar/236775 ^@ NM_000051.3(ATM):c.7516A>G (p.Arg2506Gly) http://identifiers.org/clinvar/236776 ^@ NM_000051.3(ATM):c.7563C>G (p.Tyr2521Ter) http://identifiers.org/clinvar/236777 ^@ NM_000051.3(ATM):c.7648A>G (p.Met2550Val) http://identifiers.org/clinvar/236778 ^@ NM_000051.3(ATM):c.7766A>G (p.Lys2589Arg) http://identifiers.org/clinvar/236779 ^@ NM_000051.3(ATM):c.7788G>T (p.Glu2596Asp) http://identifiers.org/clinvar/236780 ^@ NM_000051.3(ATM):c.7826T>C (p.Ile2609Thr) http://identifiers.org/clinvar/236781 ^@ NM_000051.3(ATM):c.7942C>A (p.Pro2648Thr) http://identifiers.org/clinvar/236782 ^@ NM_000051.3(ATM):c.8011-6T>G http://identifiers.org/clinvar/236783 ^@ NM_000051.3(ATM):c.8072G>C (p.Arg2691Pro) http://identifiers.org/clinvar/236784 ^@ NM_000051.3(ATM):c.8121C>T (p.Ser2707=) http://identifiers.org/clinvar/236785 ^@ NM_000051.3(ATM):c.8268+6T>A http://identifiers.org/clinvar/236786 ^@ NM_000051.3(ATM):c.8277C>T (p.Pro2759=) http://identifiers.org/clinvar/236787 ^@ NM_000051.3(ATM):c.8391T>C (p.Ser2797=) http://identifiers.org/clinvar/236788 ^@ NM_000051.3(ATM):c.8410A>C (p.Lys2804Gln) http://identifiers.org/clinvar/236790 ^@ NM_000051.3(ATM):c.8562C>T (p.Arg2854=) http://identifiers.org/clinvar/236789 ^@ NM_000051.3(ATM):c.8584+10T>C http://identifiers.org/clinvar/236791 ^@ NM_000051.3(ATM):c.8844T>C (p.Ile2948=) http://identifiers.org/clinvar/236794 ^@ NM_000051.3(ATM):c.8853C>G (p.Val2951=) http://identifiers.org/clinvar/236795 ^@ NM_000051.3(ATM):c.8993T>C (p.Ile2998Thr) http://identifiers.org/clinvar/236797 ^@ NM_000051.3(ATM):c.9068G>A (p.Gly3023Asp) http://identifiers.org/clinvar/239460 ^@ NM_003002.3(SDHD):c.10dupC (p.Leu4Profs) http://identifiers.org/clinvar/239462 ^@ NM_003002.3(SDHD):c.18G>A (p.Arg6=) http://identifiers.org/clinvar/239469 ^@ NM_003002.3(SDHD):c.42A>G (p.Leu14=) http://identifiers.org/clinvar/239474 ^@ NM_003002.3(SDHD):c.51A>C (p.Arg17=) http://identifiers.org/clinvar/239475 ^@ NM_003002.3(SDHD):c.73G>T (p.Val25Leu) http://identifiers.org/clinvar/239461 ^@ NM_003002.3(SDHD):c.173delG (p.Gly58Alafs) http://identifiers.org/clinvar/239463 ^@ NM_003002.3(SDHD):c.209G>A (p.Arg70Lys) http://identifiers.org/clinvar/239464 ^@ NM_003002.3(SDHD):c.242delC (p.Pro81Argfs) http://identifiers.org/clinvar/239465 ^@ NM_003002.3(SDHD):c.248C>T (p.Ala83Val) http://identifiers.org/clinvar/239466 ^@ NM_003002.3(SDHD):c.282C>T (p.Ser94=) http://identifiers.org/clinvar/239467 ^@ NM_003002.3(SDHD):c.318C>A (p.Gly106=) http://identifiers.org/clinvar/239468 ^@ NM_003002.3(SDHD):c.335C>T (p.Thr112Ile) http://identifiers.org/clinvar/239470 ^@ NM_003002.3(SDHD):c.361C>T (p.Gln121Ter) http://identifiers.org/clinvar/239471 ^@ NM_003002.3(SDHD):c.375G>T (p.Lys125Asn) http://identifiers.org/clinvar/239472 ^@ NM_003002.3(SDHD):c.453A>C (p.Lys151Asn) http://identifiers.org/clinvar/239473 ^@ NM_003002.3(SDHD):c.473_*3dupAGCTCTGACCT http://identifiers.org/clinvar/238184 ^@ NM_000795.3(DRD2):c.1228G>A (p.Ala410Thr) http://identifiers.org/clinvar/238186 ^@ NM_000795.3(DRD2):c.979A>G (p.Lys327Glu) http://identifiers.org/clinvar/238185 ^@ NM_000795.3(DRD2):c.423G>A (p.Leu141=) http://identifiers.org/clinvar/242025 ^@ NM_174934.3(SCN4B):c.507C>T (p.Val169=) http://identifiers.org/clinvar/242024 ^@ NM_174934.3(SCN4B):c.239T>C (p.Ile80Thr) http://identifiers.org/clinvar/239959 ^@ NM_004588.4(SCN2B):c.410G>A (p.Arg137His) http://identifiers.org/clinvar/239958 ^@ NM_004588.4(SCN2B):c.25C>T (p.Arg9Cys) http://identifiers.org/clinvar/240120 ^@ NM_005188.3(CBL):c.195+10C>A http://identifiers.org/clinvar/240119 ^@ NM_005188.3(CBL):c.1511C>T (p.Pro504Leu) http://identifiers.org/clinvar/240121 ^@ NM_005188.3(CBL):c.2036+9G>T http://identifiers.org/clinvar/240122 ^@ NM_005188.3(CBL):c.2083G>A (p.Glu695Lys) http://identifiers.org/clinvar/238195 ^@ NM_000890.3(KCNJ5):c.1124G>A (p.Arg375Gln) http://identifiers.org/clinvar/239070 ^@ NM_001909.4(CTSD):c.352+10G>C http://identifiers.org/clinvar/239543 ^@ NM_003476.4(CSRP3):c.452G>A (p.Gly151Glu) http://identifiers.org/clinvar/239542 ^@ NM_003476.4(CSRP3):c.352G>A (p.Glu118Lys) http://identifiers.org/clinvar/239541 ^@ NM_003476.4(CSRP3):c.269T>C (p.Leu90Pro) http://identifiers.org/clinvar/239540 ^@ NM_003476.4(CSRP3):c.256G>A (p.Glu86Lys) http://identifiers.org/clinvar/242257 ^@ NM_199292.2(TH):c.842A>T (p.Glu281Val) http://identifiers.org/clinvar/242256 ^@ NM_199292.2(TH):c.822C>T (p.Tyr274=) http://identifiers.org/clinvar/242255 ^@ NM_199292.2(TH):c.777G>A (p.Glu259=) http://identifiers.org/clinvar/242254 ^@ NM_199292.2(TH):c.580+3G>A http://identifiers.org/clinvar/242253 ^@ NM_199292.2(TH):c.357G>A (p.Pro119=) http://identifiers.org/clinvar/242252 ^@ NM_199292.2(TH):c.16G>A (p.Ala6Thr) http://identifiers.org/clinvar/241444 ^@ NM_022725.3(FANCF):c.825G>A (p.Leu275=) http://identifiers.org/clinvar/241443 ^@ NM_022725.3(FANCF):c.786A>G (p.Leu262=) http://identifiers.org/clinvar/241442 ^@ NM_022725.3(FANCF):c.624G>T (p.Ala208=) http://identifiers.org/clinvar/241441 ^@ NM_022725.3(FANCF):c.465A>T (p.Pro155=) http://identifiers.org/clinvar/241440 ^@ NM_022725.3(FANCF):c.387C>T (p.Leu129=) http://identifiers.org/clinvar/241439 ^@ NM_022725.3(FANCF):c.384A>C (p.Thr128=) http://identifiers.org/clinvar/241438 ^@ NM_022725.3(FANCF):c.349C>A (p.Pro117Thr) http://identifiers.org/clinvar/241437 ^@ NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) http://identifiers.org/clinvar/237228 ^@ NM_000218.2(KCNQ1):c.569G>C (p.Arg190Pro) http://identifiers.org/clinvar/237221 ^@ NM_000218.2(KCNQ1):c.1111G>C (p.Ala371Pro) http://identifiers.org/clinvar/237222 ^@ NM_000218.2(KCNQ1):c.1205G>A (p.Ser402Asn) http://identifiers.org/clinvar/241616 ^@ NM_031418.3(ANO3):c.1968C>T (p.Ile656=) http://identifiers.org/clinvar/241617 ^@ NM_031418.3(ANO3):c.2535C>T (p.Tyr845=) http://identifiers.org/clinvar/237223 ^@ NM_000218.2(KCNQ1):c.1515-7_1515-6insGC http://identifiers.org/clinvar/237224 ^@ NM_000218.2(KCNQ1):c.1665C>T (p.Arg555=) http://identifiers.org/clinvar/237225 ^@ NM_000218.2(KCNQ1):c.1836G>A (p.Met612Ile) http://identifiers.org/clinvar/237226 ^@ NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) http://identifiers.org/clinvar/237227 ^@ NM_000218.2(KCNQ1):c.1926C>T (p.Cys642=) http://identifiers.org/clinvar/236976 ^@ NM_000076.2(CDKN1C):c.801G>C (p.Leu267=) http://identifiers.org/clinvar/236975 ^@ NM_000076.2(CDKN1C):c.770C>G (p.Ala257Gly) http://identifiers.org/clinvar/236974 ^@ NM_000076.2(CDKN1C):c.745C>T (p.Arg249Cys) http://identifiers.org/clinvar/236972 ^@ NM_000076.2(CDKN1C):c.712C>T (p.Leu238Phe) http://identifiers.org/clinvar/236971 ^@ NM_000076.2(CDKN1C):c.669C>T (p.Ser223=) http://identifiers.org/clinvar/236966 ^@ NM_000076.2(CDKN1C):c.620_649del30 (p.Ala207_Pro216del) http://identifiers.org/clinvar/236969 ^@ NM_000076.2(CDKN1C):c.630_635dupCGCCCC (p.Pro216_Asp217insAlaPro) http://identifiers.org/clinvar/236970 ^@ NM_000076.2(CDKN1C):c.632_633insACCGGC (p.Pro216_Asp217insAlaPro) http://identifiers.org/clinvar/236967 ^@ NM_000076.2(CDKN1C):c.624_629delGGCCCC (p.Ala215_Pro216del) http://identifiers.org/clinvar/236968 ^@ NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro) http://identifiers.org/clinvar/236965 ^@ NM_000076.2(CDKN1C):c.618_629delGGCCCCGGCCCC (p.Ala213_Pro216del) http://identifiers.org/clinvar/236963 ^@ NM_000076.2(CDKN1C):c.600_623del24 (p.Ala209_Pro216del) http://identifiers.org/clinvar/236962 ^@ NM_000076.2(CDKN1C):c.600_617del18 (p.Ala211_Pro216del) http://identifiers.org/clinvar/236960 ^@ NM_000076.2(CDKN1C):c.600_611delAGCCCCGGCCCC (p.Ala213_Pro216del) http://identifiers.org/clinvar/236961 ^@ NM_000076.2(CDKN1C):c.600_611dupAGCCCCGGCCCC (p.Pro216_Asp217insAlaProAlaPro) http://identifiers.org/clinvar/236964 ^@ NM_000076.2(CDKN1C):c.600A>G (p.Pro200=) http://identifiers.org/clinvar/236959 ^@ NM_000076.2(CDKN1C):c.588G>A (p.Ala196=) http://identifiers.org/clinvar/236956 ^@ NM_000076.2(CDKN1C):c.558_581del24 (p.Ala187_Pro194del) http://identifiers.org/clinvar/236958 ^@ NM_000076.2(CDKN1C):c.567_572delTCCGGC (p.Ala193_Pro194del) http://identifiers.org/clinvar/236957 ^@ NM_000076.2(CDKN1C):c.560_561insCCCGGC (p.Pro194_Val195insAlaPro) http://identifiers.org/clinvar/236955 ^@ NM_000076.2(CDKN1C):c.543_554delCCCGGCCCCGGC (p.Ala191_Pro194del) http://identifiers.org/clinvar/236954 ^@ NM_000076.2(CDKN1C):c.525C>G (p.Val175=) http://identifiers.org/clinvar/236953 ^@ NM_000076.2(CDKN1C):c.494_499delTCGCGG (p.Val165_Ala166del) http://identifiers.org/clinvar/236952 ^@ NM_000076.2(CDKN1C):c.456G>A (p.Pro152=) http://identifiers.org/clinvar/236951 ^@ NM_000076.2(CDKN1C):c.444G>A (p.Pro148=) http://identifiers.org/clinvar/236949 ^@ NM_000076.2(CDKN1C):c.132C>T (p.Arg44=) http://identifiers.org/clinvar/236977 ^@ NM_000076.2(CDKN1C):c.90C>T (p.Cys30=) http://identifiers.org/clinvar/236973 ^@ NM_000076.2(CDKN1C):c.72A>G (p.Leu24=) http://identifiers.org/clinvar/236950 ^@ NM_000076.2(CDKN1C):c.15C>T (p.Ser5=) http://identifiers.org/clinvar/236948 ^@ NM_000076.2(CDKN1C):c.-84G>A http://identifiers.org/clinvar/236947 ^@ NM_000076.2(CDKN1C):c.-266G>A http://identifiers.org/clinvar/241477 ^@ NM_024426.4(WT1):c.1454G>A (p.Arg485Gln) http://identifiers.org/clinvar/241475 ^@ NM_024426.4(WT1):c.1099-9T>C http://identifiers.org/clinvar/241489 ^@ NM_024426.4(WT1):c.930C>T (p.Asn310=) http://identifiers.org/clinvar/241488 ^@ NM_024426.4(WT1):c.774G>A (p.Glu258=) http://identifiers.org/clinvar/241486 ^@ NM_024426.4(WT1):c.647-6C>A http://identifiers.org/clinvar/241485 ^@ NM_024426.4(WT1):c.646+6T>C http://identifiers.org/clinvar/241483 ^@ NM_024426.4(WT1):c.528C>T (p.Arg176=) http://identifiers.org/clinvar/241482 ^@ NM_024426.4(WT1):c.401C>G (p.Pro134Arg) http://identifiers.org/clinvar/241481 ^@ NM_024426.4(WT1):c.360C>T (p.Gly120=) http://identifiers.org/clinvar/241480 ^@ NM_024426.4(WT1):c.294C>A (p.Gly98=) http://identifiers.org/clinvar/241479 ^@ NM_024426.4(WT1):c.201G>T (p.Gln67His) http://identifiers.org/clinvar/241478 ^@ NM_024426.4(WT1):c.178G>A (p.Gly60Arg) http://identifiers.org/clinvar/241476 ^@ NM_024426.4(WT1):c.166C>A (p.Arg56=) http://identifiers.org/clinvar/241487 ^@ NM_024426.4(WT1):c.68G>A (p.Gly23Glu) http://identifiers.org/clinvar/241484 ^@ NM_024426.4(WT1):c.55C>T (p.Arg19Cys) http://identifiers.org/clinvar/237429 ^@ NM_000256.3(MYBPC3):c.3593C>T (p.Ala1198Val) http://identifiers.org/clinvar/237428 ^@ NM_000256.3(MYBPC3):c.2805C>T (p.Pro935=) http://identifiers.org/clinvar/237427 ^@ NM_000256.3(MYBPC3):c.2603-10C>T http://identifiers.org/clinvar/237426 ^@ NM_000256.3(MYBPC3):c.2308+9G>A http://identifiers.org/clinvar/237425 ^@ NM_000256.3(MYBPC3):c.2190C>A (p.Thr730=) http://identifiers.org/clinvar/237424 ^@ NM_000256.3(MYBPC3):c.1633_1640delCTGGAGGT (p.Leu545Valfs) http://identifiers.org/clinvar/237423 ^@ NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=) http://identifiers.org/clinvar/237422 ^@ NM_000256.3(MYBPC3):c.1236dupT (p.Glu413Terfs) http://identifiers.org/clinvar/237420 ^@ NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) http://identifiers.org/clinvar/237431 ^@ NM_000256.3(MYBPC3):c.822-5C>G http://identifiers.org/clinvar/237430 ^@ NM_000256.3(MYBPC3):c.596T>C (p.Leu199Pro) http://identifiers.org/clinvar/237421 ^@ NM_000256.3(MYBPC3):c.122G>A (p.Arg41His) http://identifiers.org/clinvar/240138 ^@ NM_005343.3(HRAS):c.546G>A (p.Met182Ile) http://identifiers.org/clinvar/240136 ^@ NM_005343.3(HRAS):c.498C>A (p.His166Gln) http://identifiers.org/clinvar/240135 ^@ NM_005343.3(HRAS):c.339G>A (p.Leu113=) http://identifiers.org/clinvar/240134 ^@ NM_005343.3(HRAS):c.290+6C>A http://identifiers.org/clinvar/240133 ^@ NM_005343.3(HRAS):c.174_192del19 (p.Gly60Profs) http://identifiers.org/clinvar/240132 ^@ NM_005343.3(HRAS):c.111+6C>T http://identifiers.org/clinvar/240137 ^@ NM_005343.3(HRAS):c.4A>G (p.Thr2Ala) http://identifiers.org/clinvar/241217 ^@ NM_017841.2(SDHAF2):c.36+10G>A http://identifiers.org/clinvar/241219 ^@ NM_017841.2(SDHAF2):c.63A>G (p.Leu21=) http://identifiers.org/clinvar/241216 ^@ NM_017841.2(SDHAF2):c.239T>C (p.Leu80Ser) http://identifiers.org/clinvar/241218 ^@ NM_017841.2(SDHAF2):c.490A>G (p.Lys164Glu) http://identifiers.org/clinvar/241723 ^@ NM_032667.6(BSCL2):c.1096C>T (p.Pro366Ser) http://identifiers.org/clinvar/241725 ^@ NM_032667.6(BSCL2):c.842G>A (p.Arg281Gln) http://identifiers.org/clinvar/241724 ^@ NM_032667.6(BSCL2):c.313C>T (p.Pro105Ser) http://identifiers.org/clinvar/241810 ^@ NM_130799.2(MEN1):c.1695G>T (p.Leu565=) http://identifiers.org/clinvar/241809 ^@ NM_130799.2(MEN1):c.1541C>G (p.Pro514Arg) http://identifiers.org/clinvar/241808 ^@ NM_130799.2(MEN1):c.1540C>A (p.Pro514Thr) http://identifiers.org/clinvar/241807 ^@ NM_130799.2(MEN1):c.1518C>T (p.Thr506=) http://identifiers.org/clinvar/241806 ^@ NM_130799.2(MEN1):c.1434C>T (p.Gly478=) http://identifiers.org/clinvar/241805 ^@ NM_130799.2(MEN1):c.1401C>T (p.Ala467=) http://identifiers.org/clinvar/241804 ^@ NM_130799.2(MEN1):c.1392G>A (p.Ala464=) http://identifiers.org/clinvar/241803 ^@ NM_130799.2(MEN1):c.1386C>G (p.Ala462=) http://identifiers.org/clinvar/241802 ^@ NM_130799.2(MEN1):c.1364T>A (p.Val455Glu) http://identifiers.org/clinvar/241801 ^@ NM_130799.2(MEN1):c.1351-1G>A http://identifiers.org/clinvar/241800 ^@ NM_130799.2(MEN1):c.1287G>T (p.Thr429=) http://identifiers.org/clinvar/241799 ^@ NM_130799.2(MEN1):c.1230C>T (p.Phe410=) http://identifiers.org/clinvar/241798 ^@ NM_130799.2(MEN1):c.1203T>C (p.Gly401=) http://identifiers.org/clinvar/241797 ^@ NM_130799.2(MEN1):c.1202G>T (p.Gly401Val) http://identifiers.org/clinvar/241796 ^@ NM_130799.2(MEN1):c.1029C>G (p.Asp343Glu) http://identifiers.org/clinvar/241795 ^@ NM_130799.2(MEN1):c.1026G>A (p.Ala342=) http://identifiers.org/clinvar/241830 ^@ NM_130799.2(MEN1):c.909C>T (p.His303=) http://identifiers.org/clinvar/241829 ^@ NM_130799.2(MEN1):c.837C>T (p.Ala279=) http://identifiers.org/clinvar/241828 ^@ NM_130799.2(MEN1):c.819G>T (p.Leu273=) http://identifiers.org/clinvar/241827 ^@ NM_130799.2(MEN1):c.805G>A (p.Asp269Asn) http://identifiers.org/clinvar/241826 ^@ NM_130799.2(MEN1):c.766C>T (p.Leu256Phe) http://identifiers.org/clinvar/241825 ^@ NM_130799.2(MEN1):c.759G>A (p.Ser253=) http://identifiers.org/clinvar/241824 ^@ NM_130799.2(MEN1):c.754G>T (p.Asp252Tyr) http://identifiers.org/clinvar/241823 ^@ NM_130799.2(MEN1):c.686G>A (p.Arg229His) http://identifiers.org/clinvar/241820 ^@ NM_130799.2(MEN1):c.655-4delT http://identifiers.org/clinvar/241821 ^@ NM_130799.2(MEN1):c.655-5C>G http://identifiers.org/clinvar/241822 ^@ NM_130799.2(MEN1):c.655-6C>G http://identifiers.org/clinvar/241819 ^@ NM_130799.2(MEN1):c.639C>T (p.Ala213=) http://identifiers.org/clinvar/241818 ^@ NM_130799.2(MEN1):c.633delC (p.Asn212Metfs) http://identifiers.org/clinvar/241817 ^@ NM_130799.2(MEN1):c.569G>A (p.Gly190Glu) http://identifiers.org/clinvar/241816 ^@ NM_130799.2(MEN1):c.531G>A (p.Leu177=) http://identifiers.org/clinvar/241815 ^@ NM_130799.2(MEN1):c.471G>A (p.Val157=) http://identifiers.org/clinvar/241814 ^@ NM_130799.2(MEN1):c.441C>T (p.Ile147=) http://identifiers.org/clinvar/241813 ^@ NM_130799.2(MEN1):c.403A>C (p.Lys135Gln) http://identifiers.org/clinvar/241812 ^@ NM_130799.2(MEN1):c.358A>T (p.Lys120Ter) http://identifiers.org/clinvar/241811 ^@ NM_130799.2(MEN1):c.323delG (p.Arg108Glnfs) http://identifiers.org/clinvar/241794 ^@ NM_130799.2(MEN1):c.100C>A (p.Leu34Met) http://identifiers.org/clinvar/241793 ^@ NM_130799.2(MEN1):c.-22C>A http://identifiers.org/clinvar/239949 ^@ NM_004517.3(ILK):c.619-6C>T http://identifiers.org/clinvar/241521 ^@ NM_024649.4(BBS1):c.416G>A (p.Trp139Ter) http://identifiers.org/clinvar/240186 ^@ NM_005591.3(MRE11):c.1923A>G (p.Ser641=) http://identifiers.org/clinvar/240185 ^@ NM_005591.3(MRE11):c.1563G>A (p.Glu521=) http://identifiers.org/clinvar/240184 ^@ NM_005591.3(MRE11):c.1327-2A>G http://identifiers.org/clinvar/240183 ^@ NM_005591.3(MRE11):c.1131T>C (p.Ser377=) http://identifiers.org/clinvar/240190 ^@ NM_005591.3(MRE11):c.879G>A (p.Lys293=) http://identifiers.org/clinvar/240189 ^@ NM_005591.3(MRE11):c.414T>C (p.Leu138=) http://identifiers.org/clinvar/240188 ^@ NM_005591.3(MRE11):c.405A>T (p.Ala135=) http://identifiers.org/clinvar/240187 ^@ NM_005591.3(MRE11):c.315-4T>A http://identifiers.org/clinvar/240921 ^@ NM_014679.4(CEP57):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/240922 ^@ NM_014679.4(CEP57):c.807+3G>A http://identifiers.org/clinvar/240920 ^@ NM_014679.4(CEP57):c.1036T>C (p.Leu346=) http://identifiers.org/clinvar/241075 ^@ NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) http://identifiers.org/clinvar/241077 ^@ NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) http://identifiers.org/clinvar/241076 ^@ NM_016156.5(MTMR2):c.756_758delTGA (p.Asp252del) http://identifiers.org/clinvar/241613 ^@ NM_030962.3(SBF2):c.5205G>C (p.Gln1735His) http://identifiers.org/clinvar/241612 ^@ NM_030962.3(SBF2):c.4107A>C (p.Ser1369=) http://identifiers.org/clinvar/241611 ^@ NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) http://identifiers.org/clinvar/241610 ^@ NM_030962.3(SBF2):c.3283A>G (p.Ser1095Gly) http://identifiers.org/clinvar/241609 ^@ NM_030962.3(SBF2):c.2337C>T (p.Ser779=) http://identifiers.org/clinvar/241586 ^@ NM_025114.3(CEP290):c.6819-?_*171+?dup http://identifiers.org/clinvar/241386 ^@ NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) http://identifiers.org/clinvar/241385 ^@ NM_021625.4(TRPV4):c.1656delC (p.Tyr553Thrfs) http://identifiers.org/clinvar/241384 ^@ NM_021625.4(TRPV4):c.1627C>T (p.Leu543Phe) http://identifiers.org/clinvar/241382 ^@ NM_021625.4(TRPV4):c.1581C>T (p.Thr527=) http://identifiers.org/clinvar/241381 ^@ NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) http://identifiers.org/clinvar/241380 ^@ NM_021625.4(TRPV4):c.1341C>T (p.His447=) http://identifiers.org/clinvar/241388 ^@ NM_021625.4(TRPV4):c.396G>A (p.Pro132=) http://identifiers.org/clinvar/241387 ^@ NM_021625.4(TRPV4):c.387-4C>T http://identifiers.org/clinvar/241383 ^@ NM_021625.4(TRPV4):c.159T>A (p.Asp53Glu) http://identifiers.org/clinvar/241389 ^@ NM_021625.4(TRPV4):c.81T>C (p.Gly27=) http://identifiers.org/clinvar/238283 ^@ NM_001082538.2(TCTN1):c.846C>G (p.Val282=) http://identifiers.org/clinvar/237782 ^@ NM_000432.3(MYL2):c.402+6G>C http://identifiers.org/clinvar/237783 ^@ NM_000432.3(MYL2):c.42C>T (p.Asn14=) http://identifiers.org/clinvar/237218 ^@ NM_000192.3(TBX5):c.958delA (p.Ile320Phefs) http://identifiers.org/clinvar/241045 ^@ NM_015335.4(MED13L):c.6068-8C>T http://identifiers.org/clinvar/241044 ^@ NM_015335.4(MED13L):c.4758G>A (p.Pro1586=) http://identifiers.org/clinvar/241043 ^@ NM_015335.4(MED13L):c.4744T>A (p.Ser1582Thr) http://identifiers.org/clinvar/241042 ^@ NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) http://identifiers.org/clinvar/241041 ^@ NM_015335.4(MED13L):c.1215T>G (p.Pro405=) http://identifiers.org/clinvar/241046 ^@ NM_015335.4(MED13L):c.948G>A (p.Lys316=) http://identifiers.org/clinvar/240906 ^@ NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) http://identifiers.org/clinvar/240907 ^@ NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) http://identifiers.org/clinvar/241576 ^@ NM_024809.4(TCTN2):c.731C>T (p.Thr244Ile) http://identifiers.org/clinvar/239617 ^@ NM_004064.4(CDKN1B):c.165G>A (p.Ala55=) http://identifiers.org/clinvar/239618 ^@ NM_004064.4(CDKN1B):c.258G>A (p.Glu86=) http://identifiers.org/clinvar/239619 ^@ NM_004064.4(CDKN1B):c.341C>G (p.Pro114Arg) http://identifiers.org/clinvar/239620 ^@ NM_004064.4(CDKN1B):c.384G>T (p.Thr128=) http://identifiers.org/clinvar/239621 ^@ NM_004064.4(CDKN1B):c.425C>T (p.Thr142Met) http://identifiers.org/clinvar/239622 ^@ NM_004064.4(CDKN1B):c.426G>A (p.Thr142=) http://identifiers.org/clinvar/239623 ^@ NM_004064.4(CDKN1B):c.455G>A (p.Arg152Lys) http://identifiers.org/clinvar/239624 ^@ NM_004064.4(CDKN1B):c.464C>A (p.Pro155His) http://identifiers.org/clinvar/239625 ^@ NM_004064.4(CDKN1B):c.482C>G (p.Ser161Cys) http://identifiers.org/clinvar/239626 ^@ NM_004064.4(CDKN1B):c.492C>T (p.Asn164=) http://identifiers.org/clinvar/240622 ^@ NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) http://identifiers.org/clinvar/240621 ^@ NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) http://identifiers.org/clinvar/240620 ^@ NM_006231.3(POLE):c.6796G>A (p.Gly2266Ser) http://identifiers.org/clinvar/240619 ^@ NM_006231.3(POLE):c.6795C>T (p.Tyr2265=) http://identifiers.org/clinvar/240618 ^@ NM_006231.3(POLE):c.6763A>G (p.Ile2255Val) http://identifiers.org/clinvar/240617 ^@ NM_006231.3(POLE):c.6754A>G (p.Met2252Val) http://identifiers.org/clinvar/240616 ^@ NM_006231.3(POLE):c.6730C>T (p.Leu2244Phe) http://identifiers.org/clinvar/240614 ^@ NM_006231.3(POLE):c.6727G>A (p.Ala2243Thr) http://identifiers.org/clinvar/240613 ^@ NM_006231.3(POLE):c.6682_6684delAAG (p.Lys2228del) http://identifiers.org/clinvar/240612 ^@ NM_006231.3(POLE):c.6674G>A (p.Arg2225His) http://identifiers.org/clinvar/240611 ^@ NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) http://identifiers.org/clinvar/240610 ^@ NM_006231.3(POLE):c.6666G>A (p.Leu2222=) http://identifiers.org/clinvar/240609 ^@ NM_006231.3(POLE):c.6657+9T>C http://identifiers.org/clinvar/240608 ^@ NM_006231.3(POLE):c.6631C>T (p.Leu2211=) http://identifiers.org/clinvar/240607 ^@ NM_006231.3(POLE):c.6606G>A (p.Thr2202=) http://identifiers.org/clinvar/240606 ^@ NM_006231.3(POLE):c.6605C>T (p.Thr2202Met) http://identifiers.org/clinvar/240605 ^@ NM_006231.3(POLE):c.6601A>G (p.Met2201Val) http://identifiers.org/clinvar/240604 ^@ NM_006231.3(POLE):c.6597C>T (p.Ile2199=) http://identifiers.org/clinvar/240603 ^@ NM_006231.3(POLE):c.6576G>A (p.Ala2192=) http://identifiers.org/clinvar/240602 ^@ NM_006231.3(POLE):c.6551A>G (p.Gln2184Arg) http://identifiers.org/clinvar/240601 ^@ NM_006231.3(POLE):c.6531+6G>T http://identifiers.org/clinvar/240600 ^@ NM_006231.3(POLE):c.6507G>A (p.Leu2169=) http://identifiers.org/clinvar/240599 ^@ NM_006231.3(POLE):c.6505C>T (p.Leu2169=) http://identifiers.org/clinvar/240598 ^@ NM_006231.3(POLE):c.6495C>T (p.Arg2165=) http://identifiers.org/clinvar/240597 ^@ NM_006231.3(POLE):c.6493C>T (p.Arg2165Cys) http://identifiers.org/clinvar/240596 ^@ NM_006231.3(POLE):c.6476G>A (p.Arg2159His) http://identifiers.org/clinvar/240595 ^@ NM_006231.3(POLE):c.6432C>T (p.Phe2144=) http://identifiers.org/clinvar/240594 ^@ NM_006231.3(POLE):c.6422_6423delAGinsCC (p.Glu2141Ala) http://identifiers.org/clinvar/240593 ^@ NM_006231.3(POLE):c.6403G>T (p.Val2135Phe) http://identifiers.org/clinvar/240592 ^@ NM_006231.3(POLE):c.6334C>G (p.Leu2112Val) http://identifiers.org/clinvar/240591 ^@ NM_006231.3(POLE):c.6331-8C>T http://identifiers.org/clinvar/240590 ^@ NM_006231.3(POLE):c.6328A>G (p.Lys2110Glu) http://identifiers.org/clinvar/240589 ^@ NM_006231.3(POLE):c.6262C>T (p.Pro2088Ser) http://identifiers.org/clinvar/240588 ^@ NM_006231.3(POLE):c.6257T>C (p.Met2086Thr) http://identifiers.org/clinvar/240585 ^@ NM_006231.3(POLE):c.6123C>T (p.Val2041=) http://identifiers.org/clinvar/240584 ^@ NM_006231.3(POLE):c.6112G>A (p.Glu2038Lys) http://identifiers.org/clinvar/240583 ^@ NM_006231.3(POLE):c.6068C>T (p.Thr2023Ile) http://identifiers.org/clinvar/240582 ^@ NM_006231.3(POLE):c.6050G>A (p.Arg2017His) http://identifiers.org/clinvar/240581 ^@ NM_006231.3(POLE):c.6039C>T (p.Asp2013=) http://identifiers.org/clinvar/240578 ^@ NM_006231.3(POLE):c.5912_5913insAGTGGAGGAATCCAA (p.Ser1970_Asn1971insLysValGluGluSer) http://identifiers.org/clinvar/240576 ^@ NM_006231.3(POLE):c.5829_5830delAG (p.Gly1945Serfs) http://identifiers.org/clinvar/240575 ^@ NM_006231.3(POLE):c.5812-11_5812-10delAT http://identifiers.org/clinvar/240574 ^@ NM_006231.3(POLE):c.5797A>G (p.Ile1933Val) http://identifiers.org/clinvar/240573 ^@ NM_006231.3(POLE):c.5769C>T (p.Gly1923=) http://identifiers.org/clinvar/240572 ^@ NM_006231.3(POLE):c.5742T>C (p.Leu1914=) http://identifiers.org/clinvar/240571 ^@ NM_006231.3(POLE):c.5726G>A (p.Arg1909Gln) http://identifiers.org/clinvar/240570 ^@ NM_006231.3(POLE):c.5659G>A (p.Val1887Met) http://identifiers.org/clinvar/240569 ^@ NM_006231.3(POLE):c.5633G>A (p.Arg1878His) http://identifiers.org/clinvar/240567 ^@ NM_006231.3(POLE):c.5596G>A (p.Ala1866Thr) http://identifiers.org/clinvar/240566 ^@ NM_006231.3(POLE):c.5583A>C (p.Ser1861=) http://identifiers.org/clinvar/240562 ^@ NM_006231.3(POLE):c.5528_5530delACA (p.Asn1843del) http://identifiers.org/clinvar/240564 ^@ NM_006231.3(POLE):c.5528A>G (p.Asn1843Ser) http://identifiers.org/clinvar/240561 ^@ NM_006231.3(POLE):c.5507C>T (p.Ala1836Val) http://identifiers.org/clinvar/240560 ^@ NM_006231.3(POLE):c.5496T>C (p.Leu1832=) http://identifiers.org/clinvar/240559 ^@ NM_006231.3(POLE):c.5491_5492delCT (p.Leu1831Alafs) http://identifiers.org/clinvar/240558 ^@ NM_006231.3(POLE):c.5478G>T (p.Arg1826=) http://identifiers.org/clinvar/240556 ^@ NM_006231.3(POLE):c.5382C>G (p.Ile1794Met) http://identifiers.org/clinvar/240555 ^@ NM_006231.3(POLE):c.5270G>T (p.Ser1757Ile) http://identifiers.org/clinvar/240554 ^@ NM_006231.3(POLE):c.5237A>T (p.Asn1746Ile) http://identifiers.org/clinvar/240552 ^@ NM_006231.3(POLE):c.5174-3C>T http://identifiers.org/clinvar/240551 ^@ NM_006231.3(POLE):c.5125G>A (p.Asp1709Asn) http://identifiers.org/clinvar/240550 ^@ NM_006231.3(POLE):c.5124C>T (p.Phe1708=) http://identifiers.org/clinvar/240549 ^@ NM_006231.3(POLE):c.5046C>T (p.His1682=) http://identifiers.org/clinvar/240548 ^@ NM_006231.3(POLE):c.4983A>G (p.Pro1661=) http://identifiers.org/clinvar/240547 ^@ NM_006231.3(POLE):c.4934A>G (p.Gln1645Arg) http://identifiers.org/clinvar/240546 ^@ NM_006231.3(POLE):c.4916T>C (p.Leu1639Pro) http://identifiers.org/clinvar/240545 ^@ NM_006231.3(POLE):c.4901G>A (p.Arg1634His) http://identifiers.org/clinvar/240544 ^@ NM_006231.3(POLE):c.4900C>T (p.Arg1634Cys) http://identifiers.org/clinvar/240543 ^@ NM_006231.3(POLE):c.4892G>A (p.Arg1631His) http://identifiers.org/clinvar/240542 ^@ NM_006231.3(POLE):c.4888C>T (p.Arg1630Trp) http://identifiers.org/clinvar/240541 ^@ NM_006231.3(POLE):c.4792A>C (p.Ser1598Arg) http://identifiers.org/clinvar/240540 ^@ NM_006231.3(POLE):c.4749A>G (p.Thr1583=) http://identifiers.org/clinvar/240539 ^@ NM_006231.3(POLE):c.4736G>A (p.Arg1579His) http://identifiers.org/clinvar/240538 ^@ NM_006231.3(POLE):c.4731G>C (p.Glu1577Asp) http://identifiers.org/clinvar/240537 ^@ NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) http://identifiers.org/clinvar/240536 ^@ NM_006231.3(POLE):c.4720G>A (p.Ala1574Thr) http://identifiers.org/clinvar/240535 ^@ NM_006231.3(POLE):c.4716G>A (p.Leu1572=) http://identifiers.org/clinvar/240534 ^@ NM_006231.3(POLE):c.4680C>G (p.Asp1560Glu) http://identifiers.org/clinvar/240533 ^@ NM_006231.3(POLE):c.4667G>A (p.Arg1556Gln) http://identifiers.org/clinvar/240532 ^@ NM_006231.3(POLE):c.4660G>A (p.Glu1554Lys) http://identifiers.org/clinvar/240531 ^@ NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) http://identifiers.org/clinvar/240530 ^@ NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser) http://identifiers.org/clinvar/240529 ^@ NM_006231.3(POLE):c.4593A>T (p.Ser1531=) http://identifiers.org/clinvar/240528 ^@ NM_006231.3(POLE):c.4556G>A (p.Arg1519His) http://identifiers.org/clinvar/240527 ^@ NM_006231.3(POLE):c.4542delG (p.Leu1515Trpfs) http://identifiers.org/clinvar/240526 ^@ NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) http://identifiers.org/clinvar/240525 ^@ NM_006231.3(POLE):c.4523G>A (p.Arg1508His) http://identifiers.org/clinvar/240524 ^@ NM_006231.3(POLE):c.4513C>G (p.Pro1505Ala) http://identifiers.org/clinvar/240523 ^@ NM_006231.3(POLE):c.4500C>T (p.Phe1500=) http://identifiers.org/clinvar/240521 ^@ NM_006231.3(POLE):c.4494G>A (p.Ala1498=) http://identifiers.org/clinvar/240520 ^@ NM_006231.3(POLE):c.4490A>G (p.Lys1497Arg) http://identifiers.org/clinvar/240519 ^@ NM_006231.3(POLE):c.4485C>G (p.Ala1495=) http://identifiers.org/clinvar/240518 ^@ NM_006231.3(POLE):c.4476C>T (p.His1492=) http://identifiers.org/clinvar/240517 ^@ NM_006231.3(POLE):c.4476C>A (p.His1492Gln) http://identifiers.org/clinvar/240516 ^@ NM_006231.3(POLE):c.4450A>G (p.Ile1484Val) http://identifiers.org/clinvar/240515 ^@ NM_006231.3(POLE):c.4450A>C (p.Ile1484Leu) http://identifiers.org/clinvar/240514 ^@ NM_006231.3(POLE):c.4428C>T (p.Phe1476=) http://identifiers.org/clinvar/240513 ^@ NM_006231.3(POLE):c.4411C>T (p.Arg1471Cys) http://identifiers.org/clinvar/240512 ^@ NM_006231.3(POLE):c.4353G>A (p.Leu1451=) http://identifiers.org/clinvar/240511 ^@ NM_006231.3(POLE):c.4341C>T (p.Val1447=) http://identifiers.org/clinvar/240510 ^@ NM_006231.3(POLE):c.4336G>C (p.Val1446Leu) http://identifiers.org/clinvar/240509 ^@ NM_006231.3(POLE):c.4267A>G (p.Ile1423Val) http://identifiers.org/clinvar/240508 ^@ NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) http://identifiers.org/clinvar/240507 ^@ NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) http://identifiers.org/clinvar/240506 ^@ NM_006231.3(POLE):c.4193A>G (p.Tyr1398Cys) http://identifiers.org/clinvar/240505 ^@ NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) http://identifiers.org/clinvar/240504 ^@ NM_006231.3(POLE):c.4150-6C>T http://identifiers.org/clinvar/240503 ^@ NM_006231.3(POLE):c.4125G>A (p.Ala1375=) http://identifiers.org/clinvar/240502 ^@ NM_006231.3(POLE):c.4122A>T (p.Lys1374Asn) http://identifiers.org/clinvar/240501 ^@ NM_006231.3(POLE):c.4101C>T (p.Tyr1367=) http://identifiers.org/clinvar/240500 ^@ NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) http://identifiers.org/clinvar/240499 ^@ NM_006231.3(POLE):c.4051G>A (p.Val1351Ile) http://identifiers.org/clinvar/240498 ^@ NM_006231.3(POLE):c.4047G>A (p.Ala1349=) http://identifiers.org/clinvar/240497 ^@ NM_006231.3(POLE):c.4011C>T (p.Ser1337=) http://identifiers.org/clinvar/240496 ^@ NM_006231.3(POLE):c.3971G>T (p.Arg1324Leu) http://identifiers.org/clinvar/240495 ^@ NM_006231.3(POLE):c.3971G>A (p.Arg1324His) http://identifiers.org/clinvar/240494 ^@ NM_006231.3(POLE):c.3959G>A (p.Arg1320Gln) http://identifiers.org/clinvar/240493 ^@ NM_006231.3(POLE):c.3937A>G (p.Thr1313Ala) http://identifiers.org/clinvar/240492 ^@ NM_006231.3(POLE):c.3926A>G (p.Asp1309Gly) http://identifiers.org/clinvar/240491 ^@ NM_006231.3(POLE):c.3922C>T (p.Arg1308Trp) http://identifiers.org/clinvar/240490 ^@ NM_006231.3(POLE):c.3914G>C (p.Gly1305Ala) http://identifiers.org/clinvar/240489 ^@ NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg) http://identifiers.org/clinvar/240487 ^@ NM_006231.3(POLE):c.3891G>A (p.Ser1297=) http://identifiers.org/clinvar/240486 ^@ NM_006231.3(POLE):c.3890C>T (p.Ser1297Leu) http://identifiers.org/clinvar/240485 ^@ NM_006231.3(POLE):c.3881G>A (p.Arg1294His) http://identifiers.org/clinvar/240484 ^@ NM_006231.3(POLE):c.3872A>G (p.Lys1291Arg) http://identifiers.org/clinvar/240483 ^@ NM_006231.3(POLE):c.3866G>A (p.Arg1289His) http://identifiers.org/clinvar/240482 ^@ NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) http://identifiers.org/clinvar/240481 ^@ NM_006231.3(POLE):c.3858C>T (p.Arg1286=) http://identifiers.org/clinvar/240480 ^@ NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln) http://identifiers.org/clinvar/240479 ^@ NM_006231.3(POLE):c.3834G>A (p.Lys1278=) http://identifiers.org/clinvar/240478 ^@ NM_006231.3(POLE):c.3778G>A (p.Ala1260Thr) http://identifiers.org/clinvar/240477 ^@ NM_006231.3(POLE):c.3747G>A (p.Val1249=) http://identifiers.org/clinvar/240476 ^@ NM_006231.3(POLE):c.3741G>A (p.Pro1247=) http://identifiers.org/clinvar/240475 ^@ NM_006231.3(POLE):c.3718G>A (p.Glu1240Lys) http://identifiers.org/clinvar/240474 ^@ NM_006231.3(POLE):c.3672_3674dupAGC (p.Ala1225_Pro1226insAla) http://identifiers.org/clinvar/240473 ^@ NM_006231.3(POLE):c.3620C>T (p.Pro1207Leu) http://identifiers.org/clinvar/240472 ^@ NM_006231.3(POLE):c.3619C>T (p.Pro1207Ser) http://identifiers.org/clinvar/240471 ^@ NM_006231.3(POLE):c.3583-10dupG http://identifiers.org/clinvar/240469 ^@ NM_006231.3(POLE):c.3492C>T (p.Pro1164=) http://identifiers.org/clinvar/240468 ^@ NM_006231.3(POLE):c.3441C>T (p.Ile1147=) http://identifiers.org/clinvar/240467 ^@ NM_006231.3(POLE):c.3382C>T (p.Leu1128=) http://identifiers.org/clinvar/240466 ^@ NM_006231.3(POLE):c.3379-6A>G http://identifiers.org/clinvar/240464 ^@ NM_006231.3(POLE):c.3378+10A>G http://identifiers.org/clinvar/240465 ^@ NM_006231.3(POLE):c.3378+7G>T http://identifiers.org/clinvar/240462 ^@ NM_006231.3(POLE):c.3265_3275+15dup26 http://identifiers.org/clinvar/240461 ^@ NM_006231.3(POLE):c.3245G>A (p.Arg1082His) http://identifiers.org/clinvar/240459 ^@ NM_006231.3(POLE):c.3135T>C (p.Asp1045=) http://identifiers.org/clinvar/240457 ^@ NM_006231.3(POLE):c.3069C>T (p.Asn1023=) http://identifiers.org/clinvar/240456 ^@ NM_006231.3(POLE):c.3061-9T>C http://identifiers.org/clinvar/240455 ^@ NM_006231.3(POLE):c.3060G>A (p.Lys1020=) http://identifiers.org/clinvar/240454 ^@ NM_006231.3(POLE):c.3049C>T (p.Leu1017=) http://identifiers.org/clinvar/240453 ^@ NM_006231.3(POLE):c.2974G>A (p.Ala992Thr) http://identifiers.org/clinvar/240451 ^@ NM_006231.3(POLE):c.2964G>A (p.Ser988=) http://identifiers.org/clinvar/240450 ^@ NM_006231.3(POLE):c.2935C>T (p.Leu979=) http://identifiers.org/clinvar/240449 ^@ NM_006231.3(POLE):c.2928C>T (p.Arg976=) http://identifiers.org/clinvar/240448 ^@ NM_006231.3(POLE):c.2927G>A (p.Arg976His) http://identifiers.org/clinvar/240447 ^@ NM_006231.3(POLE):c.2864+8T>C http://identifiers.org/clinvar/240446 ^@ NM_006231.3(POLE):c.2792T>C (p.Phe931Ser) http://identifiers.org/clinvar/240445 ^@ NM_006231.3(POLE):c.2781C>T (p.Asn927=) http://identifiers.org/clinvar/240444 ^@ NM_006231.3(POLE):c.2773T>C (p.Ser925Pro) http://identifiers.org/clinvar/240442 ^@ NM_006231.3(POLE):c.2739G>A (p.Leu913=) http://identifiers.org/clinvar/240440 ^@ NM_006231.3(POLE):c.2676C>T (p.Tyr892=) http://identifiers.org/clinvar/240439 ^@ NM_006231.3(POLE):c.2645A>G (p.Asn882Ser) http://identifiers.org/clinvar/240438 ^@ NM_006231.3(POLE):c.2638A>G (p.Thr880Ala) http://identifiers.org/clinvar/240437 ^@ NM_006231.3(POLE):c.2602C>T (p.Leu868=) http://identifiers.org/clinvar/240436 ^@ NM_006231.3(POLE):c.2599G>A (p.Val867Ile) http://identifiers.org/clinvar/240435 ^@ NM_006231.3(POLE):c.2527A>G (p.Ile843Val) http://identifiers.org/clinvar/240434 ^@ NM_006231.3(POLE):c.2505C>G (p.Val835=) http://identifiers.org/clinvar/240433 ^@ NM_006231.3(POLE):c.2359G>A (p.Asp787Asn) http://identifiers.org/clinvar/240432 ^@ NM_006231.3(POLE):c.2298C>T (p.Tyr766=) http://identifiers.org/clinvar/240431 ^@ NM_006231.3(POLE):c.2276G>A (p.Arg759His) http://identifiers.org/clinvar/240430 ^@ NM_006231.3(POLE):c.2255_2257delCCT (p.Ser752del) http://identifiers.org/clinvar/240429 ^@ NM_006231.3(POLE):c.2174-9C>T http://identifiers.org/clinvar/240428 ^@ NM_006231.3(POLE):c.2173+5G>A http://identifiers.org/clinvar/240427 ^@ NM_006231.3(POLE):c.2171C>T (p.Ala724Val) http://identifiers.org/clinvar/240426 ^@ NM_006231.3(POLE):c.2134C>G (p.Arg712Gly) http://identifiers.org/clinvar/240425 ^@ NM_006231.3(POLE):c.2106G>T (p.Gly702=) http://identifiers.org/clinvar/240424 ^@ NM_006231.3(POLE):c.2091delC (p.Leu698Cysfs) http://identifiers.org/clinvar/240423 ^@ NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) http://identifiers.org/clinvar/240422 ^@ NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) http://identifiers.org/clinvar/240421 ^@ NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) http://identifiers.org/clinvar/240420 ^@ NM_006231.3(POLE):c.2087C>T (p.Pro696Leu) http://identifiers.org/clinvar/240419 ^@ NM_006231.3(POLE):c.2083T>C (p.Phe695Leu) http://identifiers.org/clinvar/240416 ^@ NM_006231.3(POLE):c.2044G>A (p.Glu682Lys) http://identifiers.org/clinvar/240414 ^@ NM_006231.3(POLE):c.1993C>T (p.Arg665Trp) http://identifiers.org/clinvar/240413 ^@ NM_006231.3(POLE):c.1935G>A (p.Met645Ile) http://identifiers.org/clinvar/240412 ^@ NM_006231.3(POLE):c.1924-5C>T http://identifiers.org/clinvar/240411 ^@ NM_006231.3(POLE):c.1905C>T (p.Ile635=) http://identifiers.org/clinvar/240410 ^@ NM_006231.3(POLE):c.1863C>G (p.Leu621=) http://identifiers.org/clinvar/240409 ^@ NM_006231.3(POLE):c.1856G>A (p.Cys619Tyr) http://identifiers.org/clinvar/240408 ^@ NM_006231.3(POLE):c.1847G>A (p.Arg616His) http://identifiers.org/clinvar/240407 ^@ NM_006231.3(POLE):c.1836C>T (p.Asp612=) http://identifiers.org/clinvar/240406 ^@ NM_006231.3(POLE):c.1794+6C>T http://identifiers.org/clinvar/240405 ^@ NM_006231.3(POLE):c.1794+5C>T http://identifiers.org/clinvar/240404 ^@ NM_006231.3(POLE):c.1756G>A (p.Glu586Lys) http://identifiers.org/clinvar/240403 ^@ NM_006231.3(POLE):c.1717C>T (p.Arg573Trp) http://identifiers.org/clinvar/240402 ^@ NM_006231.3(POLE):c.1707C>T (p.Phe569=) http://identifiers.org/clinvar/240401 ^@ NM_006231.3(POLE):c.1662C>T (p.Ser554=) http://identifiers.org/clinvar/240400 ^@ NM_006231.3(POLE):c.1657C>T (p.Arg553Cys) http://identifiers.org/clinvar/240399 ^@ NM_006231.3(POLE):c.1618G>A (p.Val540Ile) http://identifiers.org/clinvar/240398 ^@ NM_006231.3(POLE):c.1591G>A (p.Gly531Arg) http://identifiers.org/clinvar/240397 ^@ NM_006231.3(POLE):c.1583C>T (p.Thr528Met) http://identifiers.org/clinvar/240395 ^@ NM_006231.3(POLE):c.1471G>A (p.Glu491Lys) http://identifiers.org/clinvar/240394 ^@ NM_006231.3(POLE):c.1455T>G (p.Ile485Met) http://identifiers.org/clinvar/240393 ^@ NM_006231.3(POLE):c.1419C>T (p.Tyr473=) http://identifiers.org/clinvar/240392 ^@ NM_006231.3(POLE):c.1405C>T (p.Leu469=) http://identifiers.org/clinvar/240390 ^@ NM_006231.3(POLE):c.1370C>T (p.Thr457Met) http://identifiers.org/clinvar/240389 ^@ NM_006231.3(POLE):c.1360-6C>T http://identifiers.org/clinvar/240388 ^@ NM_006231.3(POLE):c.1347G>A (p.Thr449=) http://identifiers.org/clinvar/240387 ^@ NM_006231.3(POLE):c.1323G>A (p.Pro441=) http://identifiers.org/clinvar/240386 ^@ NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) http://identifiers.org/clinvar/240385 ^@ NM_006231.3(POLE):c.1280C>T (p.Ala427Val) http://identifiers.org/clinvar/240384 ^@ NM_006231.3(POLE):c.1264C>T (p.His422Tyr) http://identifiers.org/clinvar/240382 ^@ NM_006231.3(POLE):c.1227-8C>T http://identifiers.org/clinvar/240381 ^@ NM_006231.3(POLE):c.1175A>G (p.Asp392Gly) http://identifiers.org/clinvar/240380 ^@ NM_006231.3(POLE):c.1171_1173delAAG (p.Lys391del) http://identifiers.org/clinvar/240379 ^@ NM_006231.3(POLE):c.1145G>A (p.Ser382Asn) http://identifiers.org/clinvar/240378 ^@ NM_006231.3(POLE):c.1138G>T (p.Gly380Cys) http://identifiers.org/clinvar/240377 ^@ NM_006231.3(POLE):c.1134C>G (p.Val378=) http://identifiers.org/clinvar/240376 ^@ NM_006231.3(POLE):c.1106+7C>A http://identifiers.org/clinvar/240375 ^@ NM_006231.3(POLE):c.1082_1086dupCCTAC (p.Asn363Profs) http://identifiers.org/clinvar/240374 ^@ NM_006231.3(POLE):c.1064A>G (p.Lys355Arg) http://identifiers.org/clinvar/240373 ^@ NM_006231.3(POLE):c.1051G>A (p.Val351Ile) http://identifiers.org/clinvar/240372 ^@ NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) http://identifiers.org/clinvar/240371 ^@ NM_006231.3(POLE):c.1015G>A (p.Asp339Asn) http://identifiers.org/clinvar/240370 ^@ NM_006231.3(POLE):c.1007A>G (p.Asn336Ser) http://identifiers.org/clinvar/240637 ^@ NM_006231.3(POLE):c.979G>A (p.Glu327Lys) http://identifiers.org/clinvar/240635 ^@ NM_006231.3(POLE):c.957T>C (p.Asp319=) http://identifiers.org/clinvar/240633 ^@ NM_006231.3(POLE):c.847C>T (p.Leu283Phe) http://identifiers.org/clinvar/240632 ^@ NM_006231.3(POLE):c.846C>T (p.Pro282=) http://identifiers.org/clinvar/240631 ^@ NM_006231.3(POLE):c.828T>C (p.Ile276=) http://identifiers.org/clinvar/240630 ^@ NM_006231.3(POLE):c.802-6C>T http://identifiers.org/clinvar/240629 ^@ NM_006231.3(POLE):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/240628 ^@ NM_006231.3(POLE):c.786C>T (p.Asp262=) http://identifiers.org/clinvar/240627 ^@ NM_006231.3(POLE):c.774C>G (p.Thr258=) http://identifiers.org/clinvar/240625 ^@ NM_006231.3(POLE):c.720+6T>C http://identifiers.org/clinvar/240624 ^@ NM_006231.3(POLE):c.718G>A (p.Val240Met) http://identifiers.org/clinvar/240623 ^@ NM_006231.3(POLE):c.691C>T (p.Arg231Cys) http://identifiers.org/clinvar/240615 ^@ NM_006231.3(POLE):c.672C>T (p.Tyr224=) http://identifiers.org/clinvar/240580 ^@ NM_006231.3(POLE):c.602T>C (p.Ile201Thr) http://identifiers.org/clinvar/240579 ^@ NM_006231.3(POLE):c.600C>T (p.Val200=) http://identifiers.org/clinvar/240577 ^@ NM_006231.3(POLE):c.588G>T (p.Gln196His) http://identifiers.org/clinvar/240568 ^@ NM_006231.3(POLE):c.561C>T (p.Tyr187=) http://identifiers.org/clinvar/240565 ^@ NM_006231.3(POLE):c.553G>A (p.Asp185Asn) http://identifiers.org/clinvar/240563 ^@ NM_006231.3(POLE):c.552C>T (p.Ser184=) http://identifiers.org/clinvar/240557 ^@ NM_006231.3(POLE):c.546C>T (p.His182=) http://identifiers.org/clinvar/240522 ^@ NM_006231.3(POLE):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/240470 ^@ NM_006231.3(POLE):c.351A>G (p.Ser117=) http://identifiers.org/clinvar/240463 ^@ NM_006231.3(POLE):c.330+3G>A http://identifiers.org/clinvar/240460 ^@ NM_006231.3(POLE):c.320C>T (p.Ala107Val) http://identifiers.org/clinvar/240458 ^@ NM_006231.3(POLE):c.306G>A (p.Pro102=) http://identifiers.org/clinvar/240452 ^@ NM_006231.3(POLE):c.296C>T (p.Pro99Leu) http://identifiers.org/clinvar/240443 ^@ NM_006231.3(POLE):c.274A>C (p.Ser92Arg) http://identifiers.org/clinvar/240441 ^@ NM_006231.3(POLE):c.270delC (p.Asp90Glufs) http://identifiers.org/clinvar/240418 ^@ NM_006231.3(POLE):c.207C>T (p.Thr69=) http://identifiers.org/clinvar/240417 ^@ NM_006231.3(POLE):c.207C>G (p.Thr69=) http://identifiers.org/clinvar/240396 ^@ NM_006231.3(POLE):c.154C>T (p.Arg52Trp) http://identifiers.org/clinvar/240391 ^@ NM_006231.3(POLE):c.139C>T (p.Arg47Trp) http://identifiers.org/clinvar/240383 ^@ NM_006231.3(POLE):c.123G>A (p.Thr41=) http://identifiers.org/clinvar/240636 ^@ NM_006231.3(POLE):c.95T>G (p.Leu32Arg) http://identifiers.org/clinvar/240634 ^@ NM_006231.3(POLE):c.94C>T (p.Leu32Phe) http://identifiers.org/clinvar/240626 ^@ NM_006231.3(POLE):c.72C>T (p.Gly24=) http://identifiers.org/clinvar/240586 ^@ NM_006231.3(POLE):c.62+10_62+11delGCinsTT http://identifiers.org/clinvar/240587 ^@ NM_006231.3(POLE):c.62+9C>T http://identifiers.org/clinvar/240553 ^@ NM_006231.3(POLE):c.51C>G (p.Gly17=) http://identifiers.org/clinvar/240488 ^@ NM_006231.3(POLE):c.38C>T (p.Pro13Leu) http://identifiers.org/clinvar/240415 ^@ NM_006231.3(POLE):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/238194 ^@ NM_000834.3(GRIN2B):c.3174C>T (p.Ser1058=) http://identifiers.org/clinvar/238193 ^@ NM_000834.3(GRIN2B):c.3088_3090delTCC (p.Ser1030del) http://identifiers.org/clinvar/238171 ^@ NM_000719.6(CACNA1C):c.213G>A (p.Ala71=) http://identifiers.org/clinvar/240206 ^@ NM_005691.3(ABCC9):c.4353T>C (p.Val1451=) http://identifiers.org/clinvar/240205 ^@ NM_005691.3(ABCC9):c.3316-4A>C http://identifiers.org/clinvar/240204 ^@ NM_005691.3(ABCC9):c.3095A>G (p.Gln1032Arg) http://identifiers.org/clinvar/240203 ^@ NM_005691.3(ABCC9):c.2630C>T (p.Thr877Met) http://identifiers.org/clinvar/240202 ^@ NM_005691.3(ABCC9):c.1975A>G (p.Thr659Ala) http://identifiers.org/clinvar/240201 ^@ NM_005691.3(ABCC9):c.1165-2A>G http://identifiers.org/clinvar/240200 ^@ NM_005691.3(ABCC9):c.1012-1G>C http://identifiers.org/clinvar/238170 ^@ NM_000719.6(CACNA1C):c.1074G>A (p.Gln358=) http://identifiers.org/clinvar/238172 ^@ NM_000719.6(CACNA1C):c.2382G>A (p.Pro794=) http://identifiers.org/clinvar/238173 ^@ NM_000719.6(CACNA1C):c.3347G>C (p.Gly1116Ala) http://identifiers.org/clinvar/238174 ^@ NM_000719.6(CACNA1C):c.5214C>T (p.Gly1738=) http://identifiers.org/clinvar/238175 ^@ NM_000719.6(CACNA1C):c.5391C>G (p.Pro1797=) http://identifiers.org/clinvar/238176 ^@ NM_000719.6(CACNA1C):c.5996C>T (p.Thr1999Ile) http://identifiers.org/clinvar/238177 ^@ NM_000719.6(CACNA1C):c.6090C>T (p.His2030=) http://identifiers.org/clinvar/238178 ^@ NM_000719.6(CACNA1C):c.6111G>A (p.Val2037=) http://identifiers.org/clinvar/239956 ^@ NM_004572.3(PKP2):c.2198_2203delACACCCinsG (p.His733Argfs) http://identifiers.org/clinvar/239955 ^@ NM_004572.3(PKP2):c.2117T>C (p.Leu706Pro) http://identifiers.org/clinvar/239954 ^@ NM_004572.3(PKP2):c.1543C>G (p.Leu515Val) http://identifiers.org/clinvar/239953 ^@ NM_004572.3(PKP2):c.1510+5G>A http://identifiers.org/clinvar/239952 ^@ NM_004572.3(PKP2):c.1449T>C (p.Thr483=) http://identifiers.org/clinvar/239957 ^@ NM_004572.3(PKP2):c.941G>A (p.Gly314Glu) http://identifiers.org/clinvar/241996 ^@ NM_153026.2(PRICKLE1):c.2316G>A (p.Ser772=) http://identifiers.org/clinvar/241997 ^@ NM_153026.2(PRICKLE1):c.47G>A (p.Cys16Tyr) http://identifiers.org/clinvar/241745 ^@ NM_033124.4(CCDC65):c.341C>T (p.Ala114Val) http://identifiers.org/clinvar/241746 ^@ NM_033124.4(CCDC65):c.548T>C (p.Ile183Thr) http://identifiers.org/clinvar/241744 ^@ NM_033124.4(CCDC65):c.1180-8A>C http://identifiers.org/clinvar/240884 ^@ NM_014191.3(SCN8A):c.1250A>C (p.Gln417Pro) http://identifiers.org/clinvar/240885 ^@ NM_014191.3(SCN8A):c.2519T>G (p.Leu840Arg) http://identifiers.org/clinvar/240886 ^@ NM_014191.3(SCN8A):c.4796-8C>T http://identifiers.org/clinvar/240887 ^@ NM_014191.3(SCN8A):c.5580G>A (p.Gly1860=) http://identifiers.org/clinvar/236552 ^@ NM_000020.2(ACVRL1):c.696_698delCTC (p.Ser233del) http://identifiers.org/clinvar/236553 ^@ NM_000020.2(ACVRL1):c.822G>A (p.Trp274Ter) http://identifiers.org/clinvar/236551 ^@ NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys) http://identifiers.org/clinvar/240088 ^@ NM_004984.2(KIF5A):c.714+9T>C http://identifiers.org/clinvar/240085 ^@ NM_004984.2(KIF5A):c.1105C>T (p.Arg369Trp) http://identifiers.org/clinvar/240086 ^@ NM_004984.2(KIF5A):c.2412C>T (p.Asp804=) http://identifiers.org/clinvar/240087 ^@ NM_004984.2(KIF5A):c.2957C>T (p.Pro986Leu) http://identifiers.org/clinvar/239025 ^@ NM_001478.4(B4GALNT1):c.1119G>A (p.Val373=) http://identifiers.org/clinvar/239027 ^@ NM_001478.4(B4GALNT1):c.880G>A (p.Ala294Thr) http://identifiers.org/clinvar/239026 ^@ NM_001478.4(B4GALNT1):c.793G>A (p.Gly265Arg) http://identifiers.org/clinvar/236946 ^@ NM_000075.3(CDK4):c.719G>A (p.Arg240Gln) http://identifiers.org/clinvar/236945 ^@ NM_000075.3(CDK4):c.629G>C (p.Arg210Pro) http://identifiers.org/clinvar/236944 ^@ NM_000075.3(CDK4):c.573T>C (p.Tyr191=) http://identifiers.org/clinvar/236943 ^@ NM_000075.3(CDK4):c.228C>T (p.Asp76=) http://identifiers.org/clinvar/236942 ^@ NM_000075.3(CDK4):c.222G>T (p.Leu74=) http://identifiers.org/clinvar/236941 ^@ NM_000075.3(CDK4):c.137G>A (p.Gly46Glu) http://identifiers.org/clinvar/236940 ^@ NM_000075.3(CDK4):c.132A>T (p.Gly44=) http://identifiers.org/clinvar/240888 ^@ NM_014231.4(VAMP1):c.340+2T>G http://identifiers.org/clinvar/241587 ^@ NM_025114.3(CEP290):c.6870T>C (p.Asn2290=) http://identifiers.org/clinvar/241585 ^@ NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) http://identifiers.org/clinvar/241584 ^@ NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) http://identifiers.org/clinvar/241583 ^@ NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) http://identifiers.org/clinvar/241912 ^@ NM_144670.5(A2ML1):c.9T>A (p.Ala3=) http://identifiers.org/clinvar/241887 ^@ NM_144670.5(A2ML1):c.200A>T (p.Glu67Val) http://identifiers.org/clinvar/241910 ^@ NM_144670.5(A2ML1):c.483+7G>A http://identifiers.org/clinvar/241911 ^@ NM_144670.5(A2ML1):c.590C>T (p.Thr197Ile) http://identifiers.org/clinvar/241883 ^@ NM_144670.5(A2ML1):c.1368C>T (p.His456=) http://identifiers.org/clinvar/241884 ^@ NM_144670.5(A2ML1):c.1444_1445delAG (p.Ser482Profs) http://identifiers.org/clinvar/241885 ^@ NM_144670.5(A2ML1):c.1476+8C>T http://identifiers.org/clinvar/241886 ^@ NM_144670.5(A2ML1):c.1686T>G (p.Val562=) http://identifiers.org/clinvar/241888 ^@ NM_144670.5(A2ML1):c.2027G>A (p.Arg676Gln) http://identifiers.org/clinvar/241889 ^@ NM_144670.5(A2ML1):c.2243G>A (p.Gly748Glu) http://identifiers.org/clinvar/241890 ^@ NM_144670.5(A2ML1):c.2252C>T (p.Ala751Val) http://identifiers.org/clinvar/241891 ^@ NM_144670.5(A2ML1):c.2295G>A (p.Ala765=) http://identifiers.org/clinvar/241892 ^@ NM_144670.5(A2ML1):c.2379C>G (p.Asp793Glu) http://identifiers.org/clinvar/241893 ^@ NM_144670.5(A2ML1):c.2464-4G>A http://identifiers.org/clinvar/241894 ^@ NM_144670.5(A2ML1):c.2550A>C (p.Glu850Asp) http://identifiers.org/clinvar/241895 ^@ NM_144670.5(A2ML1):c.2560C>T (p.His854Tyr) http://identifiers.org/clinvar/241896 ^@ NM_144670.5(A2ML1):c.2713-8C>A http://identifiers.org/clinvar/241897 ^@ NM_144670.5(A2ML1):c.2841G>A (p.Thr947=) http://identifiers.org/clinvar/241898 ^@ NM_144670.5(A2ML1):c.2985G>A (p.Thr995=) http://identifiers.org/clinvar/241899 ^@ NM_144670.5(A2ML1):c.3154A>G (p.Ile1052Val) http://identifiers.org/clinvar/241900 ^@ NM_144670.5(A2ML1):c.3252C>T (p.His1084=) http://identifiers.org/clinvar/241901 ^@ NM_144670.5(A2ML1):c.3269G>A (p.Gly1090Asp) http://identifiers.org/clinvar/241902 ^@ NM_144670.5(A2ML1):c.3272T>C (p.Val1091Ala) http://identifiers.org/clinvar/241903 ^@ NM_144670.5(A2ML1):c.3297G>C (p.Ala1099=) http://identifiers.org/clinvar/241904 ^@ NM_144670.5(A2ML1):c.3380C>T (p.Ser1127Leu) http://identifiers.org/clinvar/241905 ^@ NM_144670.5(A2ML1):c.3392C>T (p.Thr1131Met) http://identifiers.org/clinvar/241906 ^@ NM_144670.5(A2ML1):c.3686G>A (p.Arg1229His) http://identifiers.org/clinvar/241907 ^@ NM_144670.5(A2ML1):c.3804C>G (p.Ser1268=) http://identifiers.org/clinvar/241908 ^@ NM_144670.5(A2ML1):c.3880G>A (p.Val1294Ile) http://identifiers.org/clinvar/241909 ^@ NM_144670.5(A2ML1):c.3903G>C (p.Glu1301Asp) http://identifiers.org/clinvar/239535 ^@ NM_003276.2(TMPO):c.813C>T (p.Ala271=) http://identifiers.org/clinvar/239534 ^@ NM_003276.2(TMPO):c.2048T>A (p.Val683Glu) http://identifiers.org/clinvar/240894 ^@ NM_014363.5(SACS):c.12597A>G (p.Pro4199=) http://identifiers.org/clinvar/240893 ^@ NM_014363.5(SACS):c.11688G>A (p.Arg3896=) http://identifiers.org/clinvar/240892 ^@ NM_014363.5(SACS):c.10821C>A (p.Ile3607=) http://identifiers.org/clinvar/240891 ^@ NM_014363.5(SACS):c.10708A>T (p.Ile3570Leu) http://identifiers.org/clinvar/240890 ^@ NM_014363.5(SACS):c.10611A>G (p.Ala3537=) http://identifiers.org/clinvar/240889 ^@ NM_014363.5(SACS):c.10572A>G (p.Leu3524=) http://identifiers.org/clinvar/240905 ^@ NM_014363.5(SACS):c.9292A>G (p.Ile3098Val) http://identifiers.org/clinvar/240904 ^@ NM_014363.5(SACS):c.9031A>G (p.Ile3011Val) http://identifiers.org/clinvar/240903 ^@ NM_014363.5(SACS):c.8344_8345delGCinsAT (p.Ala2782Ile) http://identifiers.org/clinvar/240902 ^@ NM_014363.5(SACS):c.8339T>G (p.Phe2780Cys) http://identifiers.org/clinvar/240901 ^@ NM_014363.5(SACS):c.6781C>A (p.Leu2261Ile) http://identifiers.org/clinvar/240900 ^@ NM_014363.5(SACS):c.5848G>A (p.Asp1950Asn) http://identifiers.org/clinvar/240899 ^@ NM_014363.5(SACS):c.3391C>T (p.Leu1131Phe) http://identifiers.org/clinvar/240898 ^@ NM_014363.5(SACS):c.3129A>G (p.Ser1043=) http://identifiers.org/clinvar/240897 ^@ NM_014363.5(SACS):c.2988A>G (p.Leu996=) http://identifiers.org/clinvar/240896 ^@ NM_014363.5(SACS):c.2427G>A (p.Glu809=) http://identifiers.org/clinvar/240895 ^@ NM_014363.5(SACS):c.2080G>A (p.Ala694Thr) http://identifiers.org/clinvar/236884 ^@ NM_000059.3(BRCA2):c.57C>T (p.Cys19=) http://identifiers.org/clinvar/236846 ^@ NM_000059.3(BRCA2):c.316+13A>G http://identifiers.org/clinvar/236850 ^@ NM_000059.3(BRCA2):c.342_343delTA (p.His114Glnfs) http://identifiers.org/clinvar/236869 ^@ NM_000059.3(BRCA2):c.464G>T (p.Arg155Ile) http://identifiers.org/clinvar/236875 ^@ NM_000059.3(BRCA2):c.501A>G (p.Thr167=) http://identifiers.org/clinvar/236886 ^@ NM_000059.3(BRCA2):c.596C>T (p.Ala199Val) http://identifiers.org/clinvar/236890 ^@ NM_000059.3(BRCA2):c.632-13T>G http://identifiers.org/clinvar/236891 ^@ NM_000059.3(BRCA2):c.638_646dupATGAAGAAG (p.Glu215_Ala216insAspGluGlu) http://identifiers.org/clinvar/236910 ^@ NM_000059.3(BRCA2):c.794-17G>A http://identifiers.org/clinvar/236925 ^@ NM_000059.3(BRCA2):c.898G>A (p.Val300Ile) http://identifiers.org/clinvar/236828 ^@ NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) http://identifiers.org/clinvar/236829 ^@ NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter) http://identifiers.org/clinvar/236830 ^@ NM_000059.3(BRCA2):c.1204G>T (p.Gly402Cys) http://identifiers.org/clinvar/236831 ^@ NM_000059.3(BRCA2):c.1282C>G (p.Leu428Val) http://identifiers.org/clinvar/236832 ^@ NM_000059.3(BRCA2):c.1800T>C (p.Tyr600=) http://identifiers.org/clinvar/236833 ^@ NM_000059.3(BRCA2):c.1813A>T (p.Ile605Leu) http://identifiers.org/clinvar/236834 ^@ NM_000059.3(BRCA2):c.2077T>C (p.Cys693Arg) http://identifiers.org/clinvar/236835 ^@ NM_000059.3(BRCA2):c.2095C>T (p.Gln699Ter) http://identifiers.org/clinvar/236836 ^@ NM_000059.3(BRCA2):c.2151_2152delTG (p.Cys717Terfs) http://identifiers.org/clinvar/236837 ^@ NM_000059.3(BRCA2):c.2239G>T (p.Glu747Ter) http://identifiers.org/clinvar/236838 ^@ NM_000059.3(BRCA2):c.2257T>C (p.Phe753Leu) http://identifiers.org/clinvar/236839 ^@ NM_000059.3(BRCA2):c.2383T>A (p.Ser795Thr) http://identifiers.org/clinvar/236840 ^@ NM_000059.3(BRCA2):c.2409T>C (p.Tyr803=) http://identifiers.org/clinvar/236841 ^@ NM_000059.3(BRCA2):c.2526A>C (p.Val842=) http://identifiers.org/clinvar/236842 ^@ NM_000059.3(BRCA2):c.2729A>G (p.His910Arg) http://identifiers.org/clinvar/236843 ^@ NM_000059.3(BRCA2):c.2787A>T (p.Leu929Phe) http://identifiers.org/clinvar/236844 ^@ NM_000059.3(BRCA2):c.2837A>T (p.Asp946Val) http://identifiers.org/clinvar/236845 ^@ NM_000059.3(BRCA2):c.3007C>G (p.His1003Asp) http://identifiers.org/clinvar/236847 ^@ NM_000059.3(BRCA2):c.3329A>G (p.Glu1110Gly) http://identifiers.org/clinvar/236848 ^@ NM_000059.3(BRCA2):c.3333T>A (p.Ile1111=) http://identifiers.org/clinvar/236849 ^@ NM_000059.3(BRCA2):c.3349delA (p.Ile1117Tyrfs) http://identifiers.org/clinvar/236851 ^@ NM_000059.3(BRCA2):c.3481_3482dupGA (p.Asp1161Glufs) http://identifiers.org/clinvar/236852 ^@ NM_000059.3(BRCA2):c.3484G>A (p.Ala1162Thr) http://identifiers.org/clinvar/236853 ^@ NM_000059.3(BRCA2):c.3583C>A (p.Leu1195Met) http://identifiers.org/clinvar/236854 ^@ NM_000059.3(BRCA2):c.3669T>C (p.His1223=) http://identifiers.org/clinvar/236855 ^@ NM_000059.3(BRCA2):c.3688delT (p.Ser1230Leufs) http://identifiers.org/clinvar/236856 ^@ NM_000059.3(BRCA2):c.3735G>A (p.Glu1245=) http://identifiers.org/clinvar/236857 ^@ NM_000059.3(BRCA2):c.3826G>C (p.Glu1276Gln) http://identifiers.org/clinvar/236858 ^@ NM_000059.3(BRCA2):c.3927T>C (p.Ile1309=) http://identifiers.org/clinvar/236859 ^@ NM_000059.3(BRCA2):c.3958G>A (p.Glu1320Lys) http://identifiers.org/clinvar/236860 ^@ NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337Ilefs) http://identifiers.org/clinvar/236861 ^@ NM_000059.3(BRCA2):c.4076C>T (p.Thr1359Ile) http://identifiers.org/clinvar/236862 ^@ NM_000059.3(BRCA2):c.4127G>T (p.Gly1376Val) http://identifiers.org/clinvar/236863 ^@ NM_000059.3(BRCA2):c.4170_4171delGG (p.Glu1391Serfs) http://identifiers.org/clinvar/236864 ^@ NM_000059.3(BRCA2):c.4206T>C (p.Asn1402=) http://identifiers.org/clinvar/236865 ^@ NM_000059.3(BRCA2):c.4240A>G (p.Thr1414Ala) http://identifiers.org/clinvar/236866 ^@ NM_000059.3(BRCA2):c.4261T>C (p.Phe1421Leu) http://identifiers.org/clinvar/236867 ^@ NM_000059.3(BRCA2):c.4305T>G (p.Asn1435Lys) http://identifiers.org/clinvar/236868 ^@ NM_000059.3(BRCA2):c.4367A>C (p.Glu1456Ala) http://identifiers.org/clinvar/236870 ^@ NM_000059.3(BRCA2):c.4670C>T (p.Thr1557Ile) http://identifiers.org/clinvar/236871 ^@ NM_000059.3(BRCA2):c.4707C>A (p.Tyr1569Ter) http://identifiers.org/clinvar/236872 ^@ NM_000059.3(BRCA2):c.4713G>A (p.Glu1571=) http://identifiers.org/clinvar/236873 ^@ NM_000059.3(BRCA2):c.4729G>C (p.Glu1577Gln) http://identifiers.org/clinvar/236874 ^@ NM_000059.3(BRCA2):c.5002G>C (p.Ala1668Pro) http://identifiers.org/clinvar/236876 ^@ NM_000059.3(BRCA2):c.5103A>C (p.Gln1701His) http://identifiers.org/clinvar/236877 ^@ NM_000059.3(BRCA2):c.5115A>G (p.Ile1705Met) http://identifiers.org/clinvar/236878 ^@ NM_000059.3(BRCA2):c.5289C>T (p.Leu1763=) http://identifiers.org/clinvar/236879 ^@ NM_000059.3(BRCA2):c.5312G>T (p.Gly1771Val) http://identifiers.org/clinvar/236880 ^@ NM_000059.3(BRCA2):c.5445T>C (p.Thr1815=) http://identifiers.org/clinvar/236881 ^@ NM_000059.3(BRCA2):c.5538A>G (p.Ile1846Met) http://identifiers.org/clinvar/236882 ^@ NM_000059.3(BRCA2):c.5770A>G (p.Ile1924Val) http://identifiers.org/clinvar/236883 ^@ NM_000059.3(BRCA2):c.5798A>G (p.Asn1933Ser) http://identifiers.org/clinvar/236885 ^@ NM_000059.3(BRCA2):c.5924G>C (p.Cys1975Ser) http://identifiers.org/clinvar/236887 ^@ NM_000059.3(BRCA2):c.6214T>A (p.Ser2072Thr) http://identifiers.org/clinvar/236888 ^@ NM_000059.3(BRCA2):c.6233dupG (p.Val2079Serfs) http://identifiers.org/clinvar/236889 ^@ NM_000059.3(BRCA2):c.6237G>C (p.Val2079=) http://identifiers.org/clinvar/236893 ^@ NM_000059.3(BRCA2):c.6411T>A (p.Asn2137Lys) http://identifiers.org/clinvar/236892 ^@ NM_000059.3(BRCA2):c.6428C>A (p.Ser2143Ter) http://identifiers.org/clinvar/236894 ^@ NM_000059.3(BRCA2):c.6689T>C (p.Ile2230Thr) http://identifiers.org/clinvar/236895 ^@ NM_000059.3(BRCA2):c.6901G>C (p.Glu2301Gln) http://identifiers.org/clinvar/236896 ^@ NM_000059.3(BRCA2):c.7007+1G>A http://identifiers.org/clinvar/236897 ^@ NM_000059.3(BRCA2):c.7147dupT (p.Tyr2383Leufs) http://identifiers.org/clinvar/236898 ^@ NM_000059.3(BRCA2):c.7208C>T (p.Thr2403Ile) http://identifiers.org/clinvar/236899 ^@ NM_000059.3(BRCA2):c.7241_7242invCA (p.His2415Phefs) http://identifiers.org/clinvar/236900 ^@ NM_000059.3(BRCA2):c.7431T>C (p.Pro2477=) http://identifiers.org/clinvar/236902 ^@ NM_000059.3(BRCA2):c.7435+7T>G http://identifiers.org/clinvar/236901 ^@ NM_000059.3(BRCA2):c.7435+18G>A http://identifiers.org/clinvar/236903 ^@ NM_000059.3(BRCA2):c.7436-20A>G http://identifiers.org/clinvar/236904 ^@ NM_000059.3(BRCA2):c.7478T>G (p.Met2493Arg) http://identifiers.org/clinvar/236905 ^@ NM_000059.3(BRCA2):c.7618-19G>A http://identifiers.org/clinvar/236906 ^@ NM_000059.3(BRCA2):c.7625C>A (p.Thr2542Lys) http://identifiers.org/clinvar/236907 ^@ NM_000059.3(BRCA2):c.7630G>C (p.Gly2544Arg) http://identifiers.org/clinvar/236908 ^@ NM_000059.3(BRCA2):c.7673delA (p.Glu2558Glyfs) http://identifiers.org/clinvar/236909 ^@ NM_000059.3(BRCA2):c.7689C>T (p.His2563=) http://identifiers.org/clinvar/236911 ^@ NM_000059.3(BRCA2):c.7872T>C (p.Tyr2624=) http://identifiers.org/clinvar/236912 ^@ NM_000059.3(BRCA2):c.8026A>G (p.Met2676Val) http://identifiers.org/clinvar/236914 ^@ NM_000059.3(BRCA2):c.8191C>G (p.Gln2731Glu) http://identifiers.org/clinvar/236913 ^@ NM_000059.3(BRCA2):c.8223delG (p.Asn2742Metfs) http://identifiers.org/clinvar/236915 ^@ NM_000059.3(BRCA2):c.8253T>G (p.Ile2751Met) http://identifiers.org/clinvar/236916 ^@ NM_000059.3(BRCA2):c.8268A>C (p.Ala2756=) http://identifiers.org/clinvar/236917 ^@ NM_000059.3(BRCA2):c.8365T>C (p.Tyr2789His) http://identifiers.org/clinvar/236918 ^@ NM_000059.3(BRCA2):c.8487+14T>A http://identifiers.org/clinvar/236919 ^@ NM_000059.3(BRCA2):c.8568G>T (p.Glu2856Asp) http://identifiers.org/clinvar/236920 ^@ NM_000059.3(BRCA2):c.8585_8586delTA (p.Leu2862Argfs) http://identifiers.org/clinvar/236921 ^@ NM_000059.3(BRCA2):c.8742A>T (p.Pro2914=) http://identifiers.org/clinvar/236922 ^@ NM_000059.3(BRCA2):c.8754+22_8754+23dupTA http://identifiers.org/clinvar/236923 ^@ NM_000059.3(BRCA2):c.8881G>A (p.Gly2961Ser) http://identifiers.org/clinvar/236924 ^@ NM_000059.3(BRCA2):c.8922T>C (p.Ile2974=) http://identifiers.org/clinvar/236926 ^@ NM_000059.3(BRCA2):c.9118-11G>A http://identifiers.org/clinvar/236927 ^@ NM_000059.3(BRCA2):c.9118-9_9118-8delTTinsCA http://identifiers.org/clinvar/236928 ^@ NM_000059.3(BRCA2):c.9196C>A (p.Gln3066Lys) http://identifiers.org/clinvar/236929 ^@ NM_000059.3(BRCA2):c.9270delC (p.Phe3090Leufs) http://identifiers.org/clinvar/236930 ^@ NM_000059.3(BRCA2):c.9301C>T (p.Leu3101=) http://identifiers.org/clinvar/236932 ^@ NM_000059.3(BRCA2):c.9686C>T (p.Pro3229Leu) http://identifiers.org/clinvar/236933 ^@ NM_000059.3(BRCA2):c.9725C>T (p.Thr3242Ile) http://identifiers.org/clinvar/240962 ^@ NM_015087.4(SPG20):c.1155T>G (p.Arg385=) http://identifiers.org/clinvar/240963 ^@ NM_015087.4(SPG20):c.1127A>G (p.Asn376Ser) http://identifiers.org/clinvar/240961 ^@ NM_015087.4(SPG20):c.1053T>C (p.Pro351=) http://identifiers.org/clinvar/237673 ^@ NM_000321.2(RB1):c.42C>T (p.Ala14=) http://identifiers.org/clinvar/237674 ^@ NM_000321.2(RB1):c.52G>T (p.Ala18Ser) http://identifiers.org/clinvar/237663 ^@ NM_000321.2(RB1):c.180A>G (p.Leu60=) http://identifiers.org/clinvar/237672 ^@ NM_000321.2(RB1):c.342G>A (p.Ser114=) http://identifiers.org/clinvar/237675 ^@ NM_000321.2(RB1):c.570G>A (p.Val190=) http://identifiers.org/clinvar/237676 ^@ NM_000321.2(RB1):c.658C>T (p.Leu220=) http://identifiers.org/clinvar/237677 ^@ NM_000321.2(RB1):c.719-8T>C http://identifiers.org/clinvar/237678 ^@ NM_000321.2(RB1):c.929G>A (p.Gly310Glu) http://identifiers.org/clinvar/237679 ^@ NM_000321.2(RB1):c.982_987delAATAAA (p.Asn328_Lys329del) http://identifiers.org/clinvar/237658 ^@ NM_000321.2(RB1):c.1129A>T (p.Thr377Ser) http://identifiers.org/clinvar/237659 ^@ NM_000321.2(RB1):c.1154T>G (p.Leu385Ter) http://identifiers.org/clinvar/237660 ^@ NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) http://identifiers.org/clinvar/237661 ^@ NM_000321.2(RB1):c.1421+9T>C http://identifiers.org/clinvar/237662 ^@ NM_000321.2(RB1):c.1770T>C (p.Cys590=) http://identifiers.org/clinvar/237664 ^@ NM_000321.2(RB1):c.1814+3A>C http://identifiers.org/clinvar/237665 ^@ NM_000321.2(RB1):c.1861C>G (p.Arg621Gly) http://identifiers.org/clinvar/237666 ^@ NM_000321.2(RB1):c.1961-12T>C http://identifiers.org/clinvar/237667 ^@ NM_000321.2(RB1):c.1989T>C (p.Asn663=) http://identifiers.org/clinvar/237668 ^@ NM_000321.2(RB1):c.2053C>T (p.Gln685Ter) http://identifiers.org/clinvar/237669 ^@ NM_000321.2(RB1):c.2332A>G (p.Thr778Ala) http://identifiers.org/clinvar/237670 ^@ NM_000321.2(RB1):c.2518G>A (p.Gly840Arg) http://identifiers.org/clinvar/237671 ^@ NM_000321.2(RB1):c.2754T>C (p.Asp918=) http://identifiers.org/clinvar/240660 ^@ NM_006493.2(CLN5):c.959A>G (p.Asn320Ser) http://identifiers.org/clinvar/239002 ^@ NM_001376.4(DYNC1H1):c.738A>G (p.Gln246=) http://identifiers.org/clinvar/238997 ^@ NM_001376.4(DYNC1H1):c.1479A>G (p.Gln493=) http://identifiers.org/clinvar/238998 ^@ NM_001376.4(DYNC1H1):c.3156+5G>A http://identifiers.org/clinvar/238999 ^@ NM_001376.4(DYNC1H1):c.3571C>T (p.Arg1191Cys) http://identifiers.org/clinvar/239000 ^@ NM_001376.4(DYNC1H1):c.5718A>C (p.Gly1906=) http://identifiers.org/clinvar/239001 ^@ NM_001376.4(DYNC1H1):c.5971G>A (p.Asp1991Asn) http://identifiers.org/clinvar/239003 ^@ NM_001376.4(DYNC1H1):c.7463G>A (p.Arg2488His) http://identifiers.org/clinvar/239004 ^@ NM_001376.4(DYNC1H1):c.9564C>T (p.His3188=) http://identifiers.org/clinvar/238992 ^@ NM_001376.4(DYNC1H1):c.10065T>C (p.Ser3355=) http://identifiers.org/clinvar/238989 ^@ NM_001376.4(DYNC1H1):c.11596-7G>A http://identifiers.org/clinvar/238993 ^@ NM_001376.4(DYNC1H1):c.12159A>T (p.Gly4053=) http://identifiers.org/clinvar/238994 ^@ NM_001376.4(DYNC1H1):c.13088A>C (p.Lys4363Thr) http://identifiers.org/clinvar/238995 ^@ NM_001376.4(DYNC1H1):c.13707G>A (p.Thr4569=) http://identifiers.org/clinvar/238996 ^@ NM_001376.4(DYNC1H1):c.13808G>T (p.Ser4603Ile) http://identifiers.org/clinvar/240925 ^@ NM_014844.4(TECPR2):c.952-5G>A http://identifiers.org/clinvar/240923 ^@ NM_014844.4(TECPR2):c.1471G>A (p.Glu491Lys) http://identifiers.org/clinvar/240924 ^@ NM_014844.4(TECPR2):c.2941C>A (p.Gln981Lys) http://identifiers.org/clinvar/240110 ^@ NM_005163.2(AKT1):c.1431C>T (p.Ser477=) http://identifiers.org/clinvar/240109 ^@ NM_005163.2(AKT1):c.1389C>T (p.Ser463=) http://identifiers.org/clinvar/240108 ^@ NM_005163.2(AKT1):c.1380T>C (p.Cys460=) http://identifiers.org/clinvar/240107 ^@ NM_005163.2(AKT1):c.1329G>A (p.Thr443=) http://identifiers.org/clinvar/240106 ^@ NM_005163.2(AKT1):c.1233C>T (p.Ile411=) http://identifiers.org/clinvar/240105 ^@ NM_005163.2(AKT1):c.1228G>A (p.Gly410Ser) http://identifiers.org/clinvar/240104 ^@ NM_005163.2(AKT1):c.1227C>T (p.Ala409=) http://identifiers.org/clinvar/240103 ^@ NM_005163.2(AKT1):c.1179C>T (p.Gly393=) http://identifiers.org/clinvar/240102 ^@ NM_005163.2(AKT1):c.1032C>T (p.Cys344=) http://identifiers.org/clinvar/240101 ^@ NM_005163.2(AKT1):c.1020C>T (p.Tyr340=) http://identifiers.org/clinvar/240115 ^@ NM_005163.2(AKT1):c.958-6G>A http://identifiers.org/clinvar/240114 ^@ NM_005163.2(AKT1):c.828+10C>T http://identifiers.org/clinvar/240113 ^@ NM_005163.2(AKT1):c.432C>T (p.Arg144=) http://identifiers.org/clinvar/240112 ^@ NM_005163.2(AKT1):c.406G>A (p.Val136Met) http://identifiers.org/clinvar/240111 ^@ NM_005163.2(AKT1):c.315T>C (p.Thr105=) http://identifiers.org/clinvar/239180 ^@ NM_002471.3(MYH6):c.5809G>A (p.Asp1937Asn) http://identifiers.org/clinvar/239179 ^@ NM_002471.3(MYH6):c.5476_5477delGGinsAA (p.Gly1826Asn) http://identifiers.org/clinvar/239178 ^@ NM_002471.3(MYH6):c.5140C>A (p.Arg1714=) http://identifiers.org/clinvar/239177 ^@ NM_002471.3(MYH6):c.5137G>C (p.Glu1713Gln) http://identifiers.org/clinvar/239176 ^@ NM_002471.3(MYH6):c.4651-3C>A http://identifiers.org/clinvar/239175 ^@ NM_002471.3(MYH6):c.4594C>T (p.Arg1532Cys) http://identifiers.org/clinvar/239172 ^@ NM_002471.3(MYH6):c.4016G>A (p.Arg1339Gln) http://identifiers.org/clinvar/239170 ^@ NM_002471.3(MYH6):c.3979-7T>C http://identifiers.org/clinvar/239169 ^@ NM_002471.3(MYH6):c.3979-10_3979-8delCCC http://identifiers.org/clinvar/239171 ^@ NM_002471.3(MYH6):c.3979-9C>G http://identifiers.org/clinvar/239168 ^@ NM_002471.3(MYH6):c.3575C>T (p.Ala1192Val) http://identifiers.org/clinvar/239167 ^@ NM_002471.3(MYH6):c.3378C>T (p.Ala1126=) http://identifiers.org/clinvar/239166 ^@ NM_002471.3(MYH6):c.3347G>A (p.Arg1116His) http://identifiers.org/clinvar/239165 ^@ NM_002471.3(MYH6):c.3302_3303invTG (p.Val1101Alafs) http://identifiers.org/clinvar/239164 ^@ NM_002471.3(MYH6):c.1327C>T (p.Arg443Cys) http://identifiers.org/clinvar/239163 ^@ NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala) http://identifiers.org/clinvar/239181 ^@ NM_002471.3(MYH6):c.888G>A (p.Pro296=) http://identifiers.org/clinvar/239174 ^@ NM_002471.3(MYH6):c.420C>T (p.Ala140=) http://identifiers.org/clinvar/239173 ^@ NM_002471.3(MYH6):c.408C>T (p.Ala136=) http://identifiers.org/clinvar/237441 ^@ NM_000257.3(MYH7):c.5560-3dupC http://identifiers.org/clinvar/237440 ^@ NM_000257.3(MYH7):c.5481G>A (p.Glu1827=) http://identifiers.org/clinvar/237439 ^@ NM_000257.3(MYH7):c.5412C>G (p.Ala1804=) http://identifiers.org/clinvar/237437 ^@ NM_000257.3(MYH7):c.5272G>T (p.Ala1758Ser) http://identifiers.org/clinvar/237436 ^@ NM_000257.3(MYH7):c.5113delG (p.Glu1705Serfs) http://identifiers.org/clinvar/237435 ^@ NM_000257.3(MYH7):c.3789G>A (p.Ala1263=) http://identifiers.org/clinvar/237434 ^@ NM_000257.3(MYH7):c.2581G>A (p.Glu861Lys) http://identifiers.org/clinvar/237433 ^@ NM_000257.3(MYH7):c.2494C>T (p.Leu832Phe) http://identifiers.org/clinvar/237432 ^@ NM_000257.3(MYH7):c.1144G>T (p.Asp382Tyr) http://identifiers.org/clinvar/237444 ^@ NM_000257.3(MYH7):c.761C>A (p.Ala254Glu) http://identifiers.org/clinvar/237443 ^@ NM_000257.3(MYH7):c.662T>C (p.Ile221Thr) http://identifiers.org/clinvar/237442 ^@ NM_000257.3(MYH7):c.625C>A (p.Gln209Lys) http://identifiers.org/clinvar/237438 ^@ NM_000257.3(MYH7):c.531C>T (p.Thr177=) http://identifiers.org/clinvar/237445 ^@ NM_000257.3(MYH7):c.80A>G (p.Gln27Arg) http://identifiers.org/clinvar/238288 ^@ NM_001099274.1(TINF2):c.1236C>T (p.Asn412=) http://identifiers.org/clinvar/240717 ^@ NM_007077.4(AP4S1):c.354T>C (p.Ser118=) http://identifiers.org/clinvar/241326 ^@ NM_020937.3(FANCM):c.624A>G (p.Ile208Met) http://identifiers.org/clinvar/241314 ^@ NM_020937.3(FANCM):c.1040C>T (p.Pro347Leu) http://identifiers.org/clinvar/241315 ^@ NM_020937.3(FANCM):c.1964A>G (p.Asn655Ser) http://identifiers.org/clinvar/241316 ^@ NM_020937.3(FANCM):c.2190A>G (p.Gln730=) http://identifiers.org/clinvar/241317 ^@ NM_020937.3(FANCM):c.2445G>A (p.Ser815=) http://identifiers.org/clinvar/241318 ^@ NM_020937.3(FANCM):c.2517T>G (p.Ile839Met) http://identifiers.org/clinvar/241319 ^@ NM_020937.3(FANCM):c.3040G>T (p.Gly1014Cys) http://identifiers.org/clinvar/241320 ^@ NM_020937.3(FANCM):c.3920A>G (p.Tyr1307Cys) http://identifiers.org/clinvar/241321 ^@ NM_020937.3(FANCM):c.4260C>T (p.Asp1420=) http://identifiers.org/clinvar/241322 ^@ NM_020937.3(FANCM):c.4563A>C (p.Glu1521Asp) http://identifiers.org/clinvar/241323 ^@ NM_020937.3(FANCM):c.5142G>A (p.Ala1714=) http://identifiers.org/clinvar/241324 ^@ NM_020937.3(FANCM):c.5224A>G (p.Ile1742Val) http://identifiers.org/clinvar/241325 ^@ NM_020937.3(FANCM):c.5577T>C (p.Asn1859=) http://identifiers.org/clinvar/241282 ^@ NM_018139.2(DNAAF2):c.2176A>G (p.Thr726Ala) http://identifiers.org/clinvar/241281 ^@ NM_018139.2(DNAAF2):c.1795G>A (p.Ala599Thr) http://identifiers.org/clinvar/241280 ^@ NM_018139.2(DNAAF2):c.1405T>A (p.Cys469Ser) http://identifiers.org/clinvar/241283 ^@ NM_018139.2(DNAAF2):c.824C>T (p.Ala275Val) http://identifiers.org/clinvar/241074 ^@ NM_015915.4(ATL1):c.1230G>A (p.Gly410=) http://identifiers.org/clinvar/238600 ^@ NM_001160147.1(DDHD1):c.1804_1806delGAA (p.Glu602del) http://identifiers.org/clinvar/238599 ^@ NM_001160147.1(DDHD1):c.1730G>A (p.Arg577Gln) http://identifiers.org/clinvar/238598 ^@ NM_001160147.1(DDHD1):c.1524+10A>T http://identifiers.org/clinvar/238597 ^@ NM_001160147.1(DDHD1):c.136G>A (p.Gly46Ser) http://identifiers.org/clinvar/241863 ^@ NM_139318.4(KCNH5):c.2890C>A (p.Gln964Lys) http://identifiers.org/clinvar/241862 ^@ NM_139318.4(KCNH5):c.198-10delT http://identifiers.org/clinvar/239151 ^@ NM_002382.4(MAX):c.397G>A (p.Ala133Thr) http://identifiers.org/clinvar/239150 ^@ NM_002382.4(MAX):c.341A>C (p.Asn114Thr) http://identifiers.org/clinvar/239149 ^@ NM_002382.4(MAX):c.329A>C (p.Gln110Pro) http://identifiers.org/clinvar/239148 ^@ NM_002382.4(MAX):c.285G>A (p.Leu95=) http://identifiers.org/clinvar/239147 ^@ NM_002382.4(MAX):c.284T>C (p.Leu95Pro) http://identifiers.org/clinvar/241060 ^@ NM_015346.3(ZFYVE26):c.7533C>T (p.Ser2511=) http://identifiers.org/clinvar/241059 ^@ NM_015346.3(ZFYVE26):c.7407T>C (p.Asp2469=) http://identifiers.org/clinvar/241058 ^@ NM_015346.3(ZFYVE26):c.6987-3C>T http://identifiers.org/clinvar/241057 ^@ NM_015346.3(ZFYVE26):c.6921C>T (p.Ser2307=) http://identifiers.org/clinvar/241056 ^@ NM_015346.3(ZFYVE26):c.6744_6746delGAA (p.Lys2248del) http://identifiers.org/clinvar/241055 ^@ NM_015346.3(ZFYVE26):c.6588+7C>T http://identifiers.org/clinvar/241054 ^@ NM_015346.3(ZFYVE26):c.6229G>A (p.Gly2077Arg) http://identifiers.org/clinvar/241053 ^@ NM_015346.3(ZFYVE26):c.5784T>C (p.Tyr1928=) http://identifiers.org/clinvar/241052 ^@ NM_015346.3(ZFYVE26):c.5654-3C>T http://identifiers.org/clinvar/241051 ^@ NM_015346.3(ZFYVE26):c.5485-1delG http://identifiers.org/clinvar/241050 ^@ NM_015346.3(ZFYVE26):c.5401G>A (p.Ala1801Thr) http://identifiers.org/clinvar/241049 ^@ NM_015346.3(ZFYVE26):c.5369C>T (p.Pro1790Leu) http://identifiers.org/clinvar/241048 ^@ NM_015346.3(ZFYVE26):c.3373delC (p.His1125Thrfs) http://identifiers.org/clinvar/241047 ^@ NM_015346.3(ZFYVE26):c.2090A>G (p.Asp697Gly) http://identifiers.org/clinvar/241618 ^@ NM_031427.3(DNAL1):c.391+9A>G http://identifiers.org/clinvar/241619 ^@ NM_031427.3(DNAL1):c.492A>G (p.Glu164=) http://identifiers.org/clinvar/238249 ^@ NM_001040108.1(MLH3):c.4243-37_4243-1dup http://identifiers.org/clinvar/238248 ^@ NM_001040108.1(MLH3):c.3137G>A (p.Arg1046Gln) http://identifiers.org/clinvar/238247 ^@ NM_001040108.1(MLH3):c.2924A>G (p.Asn975Ser) http://identifiers.org/clinvar/238246 ^@ NM_001040108.1(MLH3):c.1939C>T (p.Arg647Cys) http://identifiers.org/clinvar/238245 ^@ NM_001040108.1(MLH3):c.1858T>G (p.Ser620Ala) http://identifiers.org/clinvar/238244 ^@ NM_001040108.1(MLH3):c.1637G>T (p.Arg546Ile) http://identifiers.org/clinvar/238243 ^@ NM_001040108.1(MLH3):c.1258G>A (p.Val420Ile) http://identifiers.org/clinvar/238253 ^@ NM_001040108.1(MLH3):c.837C>T (p.Cys279=) http://identifiers.org/clinvar/238252 ^@ NM_001040108.1(MLH3):c.713A>C (p.Tyr238Ser) http://identifiers.org/clinvar/238251 ^@ NM_001040108.1(MLH3):c.449A>G (p.Asn150Ser) http://identifiers.org/clinvar/238250 ^@ NM_001040108.1(MLH3):c.429G>A (p.Gly143=) http://identifiers.org/clinvar/238242 ^@ NM_001040108.1(MLH3):c.124G>A (p.Ala42Thr) http://identifiers.org/clinvar/238254 ^@ NM_001040108.1(MLH3):c.8A>G (p.Lys3Arg) http://identifiers.org/clinvar/239516 ^@ NM_003239.4(TGFB3):c.1122C>G (p.Ala374=) http://identifiers.org/clinvar/239524 ^@ NM_003239.4(TGFB3):c.873G>A (p.Pro291=) http://identifiers.org/clinvar/239522 ^@ NM_003239.4(TGFB3):c.744C>A (p.Ile248=) http://identifiers.org/clinvar/239521 ^@ NM_003239.4(TGFB3):c.420G>A (p.Glu140=) http://identifiers.org/clinvar/239520 ^@ NM_003239.4(TGFB3):c.412T>G (p.Ser138Ala) http://identifiers.org/clinvar/239519 ^@ NM_003239.4(TGFB3):c.357A>G (p.Glu119=) http://identifiers.org/clinvar/239517 ^@ NM_003239.4(TGFB3):c.179C>T (p.Thr60Met) http://identifiers.org/clinvar/239523 ^@ NM_003239.4(TGFB3):c.82A>C (p.Thr28Pro) http://identifiers.org/clinvar/239518 ^@ NM_003239.4(TGFB3):c.34C>T (p.Leu12=) http://identifiers.org/clinvar/242143 ^@ NM_177438.2(DICER1):c.5748A>G (p.Gln1916=) http://identifiers.org/clinvar/242141 ^@ NM_177438.2(DICER1):c.5528-6T>C http://identifiers.org/clinvar/242140 ^@ NM_177438.2(DICER1):c.5527+7T>A http://identifiers.org/clinvar/242139 ^@ NM_177438.2(DICER1):c.5524A>G (p.Ile1842Val) http://identifiers.org/clinvar/242138 ^@ NM_177438.2(DICER1):c.5520A>G (p.Pro1840=) http://identifiers.org/clinvar/242135 ^@ NM_177438.2(DICER1):c.5388A>G (p.Glu1796=) http://identifiers.org/clinvar/242137 ^@ NM_177438.2(DICER1):c.5337G>A (p.Lys1779=) http://identifiers.org/clinvar/242136 ^@ NM_177438.2(DICER1):c.5329C>T (p.Leu1777Phe) http://identifiers.org/clinvar/242134 ^@ NM_177438.2(DICER1):c.5315_5316delTT (p.Phe1772Cysfs) http://identifiers.org/clinvar/242133 ^@ NM_177438.2(DICER1):c.5241G>A (p.Ser1747=) http://identifiers.org/clinvar/242132 ^@ NM_177438.2(DICER1):c.5203C>T (p.Leu1735=) http://identifiers.org/clinvar/242131 ^@ NM_177438.2(DICER1):c.5151C>A (p.Thr1717=) http://identifiers.org/clinvar/242130 ^@ NM_177438.2(DICER1):c.5107C>T (p.Arg1703Cys) http://identifiers.org/clinvar/242129 ^@ NM_177438.2(DICER1):c.5095+6G>A http://identifiers.org/clinvar/242128 ^@ NM_177438.2(DICER1):c.5052C>G (p.Leu1684=) http://identifiers.org/clinvar/242127 ^@ NM_177438.2(DICER1):c.4910C>T (p.Ser1637Leu) http://identifiers.org/clinvar/242126 ^@ NM_177438.2(DICER1):c.4901T>C (p.Leu1634Ser) http://identifiers.org/clinvar/242125 ^@ NM_177438.2(DICER1):c.4899A>G (p.Val1633=) http://identifiers.org/clinvar/242124 ^@ NM_177438.2(DICER1):c.4874C>G (p.Ser1625Cys) http://identifiers.org/clinvar/242122 ^@ NM_177438.2(DICER1):c.4853C>T (p.Ser1618Leu) http://identifiers.org/clinvar/242120 ^@ NM_177438.2(DICER1):c.4802A>T (p.Lys1601Met) http://identifiers.org/clinvar/242119 ^@ NM_177438.2(DICER1):c.4755A>G (p.Ser1585=) http://identifiers.org/clinvar/242117 ^@ NM_177438.2(DICER1):c.4709A>G (p.Tyr1570Cys) http://identifiers.org/clinvar/242116 ^@ NM_177438.2(DICER1):c.4707C>T (p.Cys1569=) http://identifiers.org/clinvar/242114 ^@ NM_177438.2(DICER1):c.4616C>T (p.Thr1539Met) http://identifiers.org/clinvar/242113 ^@ NM_177438.2(DICER1):c.4554T>A (p.Val1518=) http://identifiers.org/clinvar/242112 ^@ NM_177438.2(DICER1):c.4515T>C (p.Ser1505=) http://identifiers.org/clinvar/242111 ^@ NM_177438.2(DICER1):c.4489G>A (p.Asp1497Asn) http://identifiers.org/clinvar/242110 ^@ NM_177438.2(DICER1):c.4472G>T (p.Ser1491Ile) http://identifiers.org/clinvar/242109 ^@ NM_177438.2(DICER1):c.4386T>C (p.Ala1462=) http://identifiers.org/clinvar/242108 ^@ NM_177438.2(DICER1):c.4364A>C (p.Asn1455Thr) http://identifiers.org/clinvar/242107 ^@ NM_177438.2(DICER1):c.4312T>A (p.Tyr1438Asn) http://identifiers.org/clinvar/242106 ^@ NM_177438.2(DICER1):c.4227G>A (p.Ala1409=) http://identifiers.org/clinvar/242105 ^@ NM_177438.2(DICER1):c.4207-3C>T http://identifiers.org/clinvar/242104 ^@ NM_177438.2(DICER1):c.4206+8_4206+9insTTTTTT http://identifiers.org/clinvar/242102 ^@ NM_177438.2(DICER1):c.4206+8_4206+9insTTGTGT http://identifiers.org/clinvar/242103 ^@ NM_177438.2(DICER1):c.4206+8_4206+9insTTGTGTGTGTGT http://identifiers.org/clinvar/242101 ^@ NM_177438.2(DICER1):c.4189T>C (p.Trp1397Arg) http://identifiers.org/clinvar/242100 ^@ NM_177438.2(DICER1):c.4178_4180dupACA (p.Asn1393_Thr1394insAsn) http://identifiers.org/clinvar/242099 ^@ NM_177438.2(DICER1):c.4102C>T (p.Arg1368Cys) http://identifiers.org/clinvar/242098 ^@ NM_177438.2(DICER1):c.4004dupA (p.Tyr1335Terfs) http://identifiers.org/clinvar/242097 ^@ NM_177438.2(DICER1):c.3986C>G (p.Thr1329Arg) http://identifiers.org/clinvar/242096 ^@ NM_177438.2(DICER1):c.3957C>T (p.Gly1319=) http://identifiers.org/clinvar/242095 ^@ NM_177438.2(DICER1):c.3915C>T (p.Asn1305=) http://identifiers.org/clinvar/242094 ^@ NM_177438.2(DICER1):c.3898G>A (p.Ala1300Thr) http://identifiers.org/clinvar/242093 ^@ NM_177438.2(DICER1):c.3848T>C (p.Ile1283Thr) http://identifiers.org/clinvar/242092 ^@ NM_177438.2(DICER1):c.3823A>G (p.Met1275Val) http://identifiers.org/clinvar/242091 ^@ NM_177438.2(DICER1):c.3792G>A (p.Thr1264=) http://identifiers.org/clinvar/242090 ^@ NM_177438.2(DICER1):c.3674A>G (p.Tyr1225Cys) http://identifiers.org/clinvar/242089 ^@ NM_177438.2(DICER1):c.3660G>A (p.Gln1220=) http://identifiers.org/clinvar/242088 ^@ NM_177438.2(DICER1):c.3552C>A (p.Leu1184=) http://identifiers.org/clinvar/242087 ^@ NM_177438.2(DICER1):c.3501A>G (p.Glu1167=) http://identifiers.org/clinvar/242086 ^@ NM_177438.2(DICER1):c.3496G>A (p.Val1166Ile) http://identifiers.org/clinvar/242085 ^@ NM_177438.2(DICER1):c.3479C>A (p.Ser1160Tyr) http://identifiers.org/clinvar/242084 ^@ NM_177438.2(DICER1):c.3374G>A (p.Ser1125Asn) http://identifiers.org/clinvar/242082 ^@ NM_177438.2(DICER1):c.3270-10G>A http://identifiers.org/clinvar/242081 ^@ NM_177438.2(DICER1):c.3261G>A (p.Ala1087=) http://identifiers.org/clinvar/242080 ^@ NM_177438.2(DICER1):c.3213A>G (p.Arg1071=) http://identifiers.org/clinvar/242079 ^@ NM_177438.2(DICER1):c.3210A>G (p.Leu1070=) http://identifiers.org/clinvar/242078 ^@ NM_177438.2(DICER1):c.3198T>C (p.Thr1066=) http://identifiers.org/clinvar/242077 ^@ NM_177438.2(DICER1):c.3133G>C (p.Ala1045Pro) http://identifiers.org/clinvar/242075 ^@ NM_177438.2(DICER1):c.2906C>T (p.Ala969Val) http://identifiers.org/clinvar/242074 ^@ NM_177438.2(DICER1):c.2898A>G (p.Glu966=) http://identifiers.org/clinvar/242073 ^@ NM_177438.2(DICER1):c.2872A>G (p.Ser958Gly) http://identifiers.org/clinvar/242072 ^@ NM_177438.2(DICER1):c.2805-9C>T http://identifiers.org/clinvar/242071 ^@ NM_177438.2(DICER1):c.2752A>T (p.Thr918Ser) http://identifiers.org/clinvar/242069 ^@ NM_177438.2(DICER1):c.2717G>A (p.Arg906His) http://identifiers.org/clinvar/242068 ^@ NM_177438.2(DICER1):c.2659T>C (p.Ser887Pro) http://identifiers.org/clinvar/242067 ^@ NM_177438.2(DICER1):c.2575C>T (p.Arg859Trp) http://identifiers.org/clinvar/242066 ^@ NM_177438.2(DICER1):c.2565A>G (p.Ser855=) http://identifiers.org/clinvar/242062 ^@ NM_177438.2(DICER1):c.2436+4_2436+7delGGTA http://identifiers.org/clinvar/242061 ^@ NM_177438.2(DICER1):c.2316G>A (p.Val772=) http://identifiers.org/clinvar/242060 ^@ NM_177438.2(DICER1):c.2249C>G (p.Pro750Arg) http://identifiers.org/clinvar/242059 ^@ NM_177438.2(DICER1):c.2133T>C (p.His711=) http://identifiers.org/clinvar/242058 ^@ NM_177438.2(DICER1):c.2118C>T (p.Gly706=) http://identifiers.org/clinvar/242057 ^@ NM_177438.2(DICER1):c.2117-9A>G http://identifiers.org/clinvar/242056 ^@ NM_177438.2(DICER1):c.2115T>C (p.Ile705=) http://identifiers.org/clinvar/242055 ^@ NM_177438.2(DICER1):c.2033C>T (p.Ser678Phe) http://identifiers.org/clinvar/242054 ^@ NM_177438.2(DICER1):c.2026C>T (p.Arg676Ter) http://identifiers.org/clinvar/242053 ^@ NM_177438.2(DICER1):c.1908-4A>G http://identifiers.org/clinvar/242052 ^@ NM_177438.2(DICER1):c.1891A>G (p.Ile631Val) http://identifiers.org/clinvar/242051 ^@ NM_177438.2(DICER1):c.1887G>A (p.Thr629=) http://identifiers.org/clinvar/242050 ^@ NM_177438.2(DICER1):c.1787C>A (p.Thr596Asn) http://identifiers.org/clinvar/242049 ^@ NM_177438.2(DICER1):c.1707A>T (p.Ile569=) http://identifiers.org/clinvar/242048 ^@ NM_177438.2(DICER1):c.1692G>A (p.Ala564=) http://identifiers.org/clinvar/242047 ^@ NM_177438.2(DICER1):c.1681A>G (p.Ile561Val) http://identifiers.org/clinvar/242046 ^@ NM_177438.2(DICER1):c.1583T>C (p.Ile528Thr) http://identifiers.org/clinvar/242045 ^@ NM_177438.2(DICER1):c.1543C>T (p.Leu515=) http://identifiers.org/clinvar/242044 ^@ NM_177438.2(DICER1):c.1510-4delT http://identifiers.org/clinvar/242043 ^@ NM_177438.2(DICER1):c.1509+8A>T http://identifiers.org/clinvar/242042 ^@ NM_177438.2(DICER1):c.1509+8A>C http://identifiers.org/clinvar/242041 ^@ NM_177438.2(DICER1):c.1506A>G (p.Glu502=) http://identifiers.org/clinvar/242040 ^@ NM_177438.2(DICER1):c.1480A>G (p.Met494Val) http://identifiers.org/clinvar/242039 ^@ NM_177438.2(DICER1):c.1468C>T (p.Arg490Cys) http://identifiers.org/clinvar/242037 ^@ NM_177438.2(DICER1):c.1381A>G (p.Ile461Val) http://identifiers.org/clinvar/242036 ^@ NM_177438.2(DICER1):c.1317C>G (p.Thr439=) http://identifiers.org/clinvar/242035 ^@ NM_177438.2(DICER1):c.1278A>G (p.Glu426=) http://identifiers.org/clinvar/242034 ^@ NM_177438.2(DICER1):c.1233A>G (p.Ser411=) http://identifiers.org/clinvar/242033 ^@ NM_177438.2(DICER1):c.1168T>C (p.Tyr390His) http://identifiers.org/clinvar/242032 ^@ NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg) http://identifiers.org/clinvar/242031 ^@ NM_177438.2(DICER1):c.1109T>C (p.Leu370Pro) http://identifiers.org/clinvar/242030 ^@ NM_177438.2(DICER1):c.1089C>T (p.Phe363=) http://identifiers.org/clinvar/242029 ^@ NM_177438.2(DICER1):c.1081G>A (p.Glu361Lys) http://identifiers.org/clinvar/242153 ^@ NM_177438.2(DICER1):c.920G>A (p.Arg307His) http://identifiers.org/clinvar/242152 ^@ NM_177438.2(DICER1):c.896C>T (p.Ser299Leu) http://identifiers.org/clinvar/242151 ^@ NM_177438.2(DICER1):c.884C>G (p.Ser295Cys) http://identifiers.org/clinvar/242150 ^@ NM_177438.2(DICER1):c.877A>G (p.Arg293Gly) http://identifiers.org/clinvar/242149 ^@ NM_177438.2(DICER1):c.747G>A (p.Gln249=) http://identifiers.org/clinvar/242148 ^@ NM_177438.2(DICER1):c.734+6C>T http://identifiers.org/clinvar/242146 ^@ NM_177438.2(DICER1):c.648A>G (p.Pro216=) http://identifiers.org/clinvar/242145 ^@ NM_177438.2(DICER1):c.639A>G (p.Lys213=) http://identifiers.org/clinvar/242144 ^@ NM_177438.2(DICER1):c.594A>G (p.Ser198=) http://identifiers.org/clinvar/242142 ^@ NM_177438.2(DICER1):c.559C>A (p.Arg187=) http://identifiers.org/clinvar/242123 ^@ NM_177438.2(DICER1):c.485G>A (p.Gly162Asp) http://identifiers.org/clinvar/242121 ^@ NM_177438.2(DICER1):c.480A>G (p.Lys160=) http://identifiers.org/clinvar/242118 ^@ NM_177438.2(DICER1):c.474T>G (p.Val158=) http://identifiers.org/clinvar/242115 ^@ NM_177438.2(DICER1):c.463G>A (p.Ala155Thr) http://identifiers.org/clinvar/242083 ^@ NM_177438.2(DICER1):c.333A>G (p.Ser111=) http://identifiers.org/clinvar/242070 ^@ NM_177438.2(DICER1):c.272G>A (p.Arg91Lys) http://identifiers.org/clinvar/242065 ^@ NM_177438.2(DICER1):c.255C>G (p.Ile85Met) http://identifiers.org/clinvar/242064 ^@ NM_177438.2(DICER1):c.248A>G (p.Tyr83Cys) http://identifiers.org/clinvar/242063 ^@ NM_177438.2(DICER1):c.243G>A (p.Leu81=) http://identifiers.org/clinvar/242038 ^@ NM_177438.2(DICER1):c.145-9T>C http://identifiers.org/clinvar/242147 ^@ NM_177438.2(DICER1):c.70A>G (p.Met24Val) http://identifiers.org/clinvar/242076 ^@ NM_177438.2(DICER1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/241833 ^@ NM_130838.1(UBE3A):c.-44-?_*1888+?del http://identifiers.org/clinvar/238187 ^@ NM_000814.5(GABRB3):c.-114-?_*4247+?del http://identifiers.org/clinvar/237097 ^@ NM_000138.4(FBN1):c.5423-?_*2684+?del http://identifiers.org/clinvar/241881 ^@ NM_144599.4(NIPA1):c.39_47delGGCGGCGGC (p.Ala14_Ala16del) http://identifiers.org/clinvar/241882 ^@ NM_144599.4(NIPA1):c.45_47dupGGC (p.Ala16_Gly17insAla) http://identifiers.org/clinvar/241835 ^@ NM_130838.1(UBE3A):c.1461C>T (p.Leu487=) http://identifiers.org/clinvar/238188 ^@ NM_000814.5(GABRB3):c.1081-10G>A http://identifiers.org/clinvar/240100 ^@ NM_005159.4(ACTC1):c.456C>T (p.Gly152=) http://identifiers.org/clinvar/240099 ^@ NM_005159.4(ACTC1):c.342C>T (p.Pro114=) http://identifiers.org/clinvar/240098 ^@ NM_005159.4(ACTC1):c.129G>A (p.Gln43=) http://identifiers.org/clinvar/241990 ^@ NM_152594.2(SPRED1):c.685-8T>C http://identifiers.org/clinvar/241991 ^@ NM_152594.2(SPRED1):c.886T>C (p.Cys296Arg) http://identifiers.org/clinvar/241992 ^@ NM_152594.2(SPRED1):c.939G>A (p.Thr313=) http://identifiers.org/clinvar/241993 ^@ NM_152594.2(SPRED1):c.995G>A (p.Arg332His) http://identifiers.org/clinvar/241988 ^@ NM_152594.2(SPRED1):c.1005C>T (p.Cys335=) http://identifiers.org/clinvar/241989 ^@ NM_152594.2(SPRED1):c.1151_1152delAG (p.Glu384Glyfs) http://identifiers.org/clinvar/238666 ^@ NM_001211.5(BUB1B):c.348T>C (p.Tyr116=) http://identifiers.org/clinvar/238661 ^@ NM_001211.5(BUB1B):c.1371A>G (p.Gln457=) http://identifiers.org/clinvar/238662 ^@ NM_001211.5(BUB1B):c.1630C>T (p.Pro544Ser) http://identifiers.org/clinvar/238663 ^@ NM_001211.5(BUB1B):c.2385+4G>C http://identifiers.org/clinvar/238664 ^@ NM_001211.5(BUB1B):c.2405C>T (p.Pro802Leu) http://identifiers.org/clinvar/238665 ^@ NM_001211.5(BUB1B):c.2729T>A (p.Val910Glu) http://identifiers.org/clinvar/241599 ^@ NM_025137.3(SPG11):c.7256A>G (p.Lys2419Arg) http://identifiers.org/clinvar/241598 ^@ NM_025137.3(SPG11):c.6632G>A (p.Arg2211His) http://identifiers.org/clinvar/241596 ^@ NM_025137.3(SPG11):c.4810T>C (p.Phe1604Leu) http://identifiers.org/clinvar/241595 ^@ NM_025137.3(SPG11):c.4742C>T (p.Thr1581Met) http://identifiers.org/clinvar/241594 ^@ NM_025137.3(SPG11):c.4026A>G (p.Gln1342=) http://identifiers.org/clinvar/241591 ^@ NM_025137.3(SPG11):c.1602+10T>G http://identifiers.org/clinvar/241590 ^@ NM_025137.3(SPG11):c.1348dupA (p.Ile450Asnfs) http://identifiers.org/clinvar/241589 ^@ NM_025137.3(SPG11):c.1248G>T (p.Met416Ile) http://identifiers.org/clinvar/241588 ^@ NM_025137.3(SPG11):c.1008-4C>T http://identifiers.org/clinvar/241600 ^@ NM_025137.3(SPG11):c.833A>T (p.Asn278Ile) http://identifiers.org/clinvar/241593 ^@ NM_025137.3(SPG11):c.337C>T (p.Leu113=) http://identifiers.org/clinvar/241592 ^@ NM_025137.3(SPG11):c.328A>G (p.Asn110Asp) http://identifiers.org/clinvar/241597 ^@ NM_025137.3(SPG11):c.60G>C (p.Ala20=) http://identifiers.org/clinvar/237107 ^@ NM_000138.4(FBN1):c.8177G>A (p.Arg2726Gln) http://identifiers.org/clinvar/237106 ^@ NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) http://identifiers.org/clinvar/237103 ^@ NM_000138.4(FBN1):c.7317G>C (p.Gly2439=) http://identifiers.org/clinvar/237102 ^@ NM_000138.4(FBN1):c.6313+5G>A http://identifiers.org/clinvar/237101 ^@ NM_000138.4(FBN1):c.6272G>A (p.Gly2091Asp) http://identifiers.org/clinvar/237100 ^@ NM_000138.4(FBN1):c.5683T>C (p.Cys1895Arg) http://identifiers.org/clinvar/237099 ^@ NM_000138.4(FBN1):c.5504G>C (p.Cys1835Ser) http://identifiers.org/clinvar/237098 ^@ NM_000138.4(FBN1):c.5423-4G>A http://identifiers.org/clinvar/237096 ^@ NM_000138.4(FBN1):c.5142G>A (p.Met1714Ile) http://identifiers.org/clinvar/237095 ^@ NM_000138.4(FBN1):c.5066-7C>G http://identifiers.org/clinvar/237094 ^@ NM_000138.4(FBN1):c.5038C>T (p.Gln1680Ter) http://identifiers.org/clinvar/237093 ^@ NM_000138.4(FBN1):c.4816+8_4816+9insACCTTCCTTT http://identifiers.org/clinvar/237092 ^@ NM_000138.4(FBN1):c.4454G>C (p.Cys1485Ser) http://identifiers.org/clinvar/237090 ^@ NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) http://identifiers.org/clinvar/237089 ^@ NM_000138.4(FBN1):c.3936C>T (p.Ser1312=) http://identifiers.org/clinvar/237088 ^@ NM_000138.4(FBN1):c.3411C>T (p.Arg1137=) http://identifiers.org/clinvar/237087 ^@ NM_000138.4(FBN1):c.2543C>A (p.Thr848Asn) http://identifiers.org/clinvar/237086 ^@ NM_000138.4(FBN1):c.2539+10T>A http://identifiers.org/clinvar/237085 ^@ NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) http://identifiers.org/clinvar/237084 ^@ NM_000138.4(FBN1):c.2171T>C (p.Ile724Thr) http://identifiers.org/clinvar/237082 ^@ NM_000138.4(FBN1):c.1961-7T>C http://identifiers.org/clinvar/237083 ^@ NM_000138.4(FBN1):c.1916G>A (p.Cys639Tyr) http://identifiers.org/clinvar/237081 ^@ NM_000138.4(FBN1):c.1884C>T (p.Cys628=) http://identifiers.org/clinvar/237080 ^@ NM_000138.4(FBN1):c.1323A>G (p.Pro441=) http://identifiers.org/clinvar/237105 ^@ NM_000138.4(FBN1):c.783T>C (p.Asn261=) http://identifiers.org/clinvar/237104 ^@ NM_000138.4(FBN1):c.732T>A (p.Cys244Ter) http://identifiers.org/clinvar/237091 ^@ NM_000138.4(FBN1):c.434G>A (p.Cys145Tyr) http://identifiers.org/clinvar/240836 ^@ NM_007347.4(AP4E1):c.1485T>C (p.Tyr495=) http://identifiers.org/clinvar/240837 ^@ NM_007347.4(AP4E1):c.1852G>A (p.Val618Ile) http://identifiers.org/clinvar/241834 ^@ NM_130810.3(DNAAF4):c.893+5G>A http://identifiers.org/clinvar/241832 ^@ NM_130810.3(DNAAF4):c.384C>T (p.Tyr128=) http://identifiers.org/clinvar/241831 ^@ NM_130810.3(DNAAF4):c.128A>G (p.Asn43Ser) http://identifiers.org/clinvar/238212 ^@ NM_001018005.1(TPM1):c.51C>G (p.Asn17Lys) http://identifiers.org/clinvar/238213 ^@ NM_001018005.1(TPM1):c.563+6C>G http://identifiers.org/clinvar/241114 ^@ NM_016630.6(SPG21):c.223G>A (p.Ala75Thr) http://identifiers.org/clinvar/240174 ^@ NM_005585.4(SMAD6):c.106G>A (p.Asp36Asn) http://identifiers.org/clinvar/240175 ^@ NM_005585.4(SMAD6):c.120C>A (p.Gly40=) http://identifiers.org/clinvar/240176 ^@ NM_005585.4(SMAD6):c.120C>T (p.Gly40=) http://identifiers.org/clinvar/240177 ^@ NM_005585.4(SMAD6):c.264C>G (p.Gly88=) http://identifiers.org/clinvar/240178 ^@ NM_005585.4(SMAD6):c.447C>T (p.Ala149=) http://identifiers.org/clinvar/240179 ^@ NM_005585.4(SMAD6):c.482C>T (p.Ala161Val) http://identifiers.org/clinvar/240180 ^@ NM_005585.4(SMAD6):c.594C>T (p.Arg198=) http://identifiers.org/clinvar/240181 ^@ NM_005585.4(SMAD6):c.817+9G>C http://identifiers.org/clinvar/240182 ^@ NM_005585.4(SMAD6):c.909G>A (p.Thr303=) http://identifiers.org/clinvar/240268 ^@ NM_005902.3(SMAD3):c.326G>A (p.Cys109Tyr) http://identifiers.org/clinvar/240269 ^@ NM_005902.3(SMAD3):c.532+8C>T http://identifiers.org/clinvar/240270 ^@ NM_005902.3(SMAD3):c.603C>T (p.Asp201=) http://identifiers.org/clinvar/240271 ^@ NM_005902.3(SMAD3):c.783C>T (p.Thr261=) http://identifiers.org/clinvar/240272 ^@ NM_005902.3(SMAD3):c.912C>T (p.Phe304=) http://identifiers.org/clinvar/240273 ^@ NM_005902.3(SMAD3):c.984G>A (p.Pro328=) http://identifiers.org/clinvar/241228 ^@ NM_017882.2(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) http://identifiers.org/clinvar/240170 ^@ NM_005477.2(HCN4):c.3307A>G (p.Arg1103Gly) http://identifiers.org/clinvar/240169 ^@ NM_005477.2(HCN4):c.3228C>T (p.Pro1076=) http://identifiers.org/clinvar/240168 ^@ NM_005477.2(HCN4):c.3147C>T (p.His1049=) http://identifiers.org/clinvar/240167 ^@ NM_005477.2(HCN4):c.2938G>A (p.Gly980Arg) http://identifiers.org/clinvar/240166 ^@ NM_005477.2(HCN4):c.2385C>T (p.Leu795=) http://identifiers.org/clinvar/240165 ^@ NM_005477.2(HCN4):c.2181C>T (p.His727=) http://identifiers.org/clinvar/240173 ^@ NM_005477.2(HCN4):c.724C>T (p.Arg242Cys) http://identifiers.org/clinvar/240172 ^@ NM_005477.2(HCN4):c.546C>G (p.Pro182=) http://identifiers.org/clinvar/240171 ^@ NM_005477.2(HCN4):c.545C>T (p.Pro182Leu) http://identifiers.org/clinvar/240164 ^@ NM_005477.2(HCN4):c.128C>T (p.Pro43Leu) http://identifiers.org/clinvar/238325 ^@ NM_001113378.1(FANCI):c.33A>G (p.Glu11=) http://identifiers.org/clinvar/238328 ^@ NM_001113378.1(FANCI):c.446-6T>G http://identifiers.org/clinvar/238329 ^@ NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) http://identifiers.org/clinvar/238330 ^@ NM_001113378.1(FANCI):c.753C>T (p.Asp251=) http://identifiers.org/clinvar/238331 ^@ NM_001113378.1(FANCI):c.905A>G (p.Asn302Ser) http://identifiers.org/clinvar/238307 ^@ NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) http://identifiers.org/clinvar/238308 ^@ NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) http://identifiers.org/clinvar/238309 ^@ NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) http://identifiers.org/clinvar/238310 ^@ NM_001113378.1(FANCI):c.1741G>A (p.Glu581Lys) http://identifiers.org/clinvar/238311 ^@ NM_001113378.1(FANCI):c.1891-6A>G http://identifiers.org/clinvar/238312 ^@ NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) http://identifiers.org/clinvar/238313 ^@ NM_001113378.1(FANCI):c.2078_2089delAGGAGGAAGAGG (p.Glu693_Glu696del) http://identifiers.org/clinvar/238314 ^@ NM_001113378.1(FANCI):c.2167C>T (p.Leu723=) http://identifiers.org/clinvar/238315 ^@ NM_001113378.1(FANCI):c.2278A>G (p.Ile760Val) http://identifiers.org/clinvar/238316 ^@ NM_001113378.1(FANCI):c.2547A>G (p.Lys849=) http://identifiers.org/clinvar/238317 ^@ NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) http://identifiers.org/clinvar/238318 ^@ NM_001113378.1(FANCI):c.2781T>A (p.Ile927=) http://identifiers.org/clinvar/238319 ^@ NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) http://identifiers.org/clinvar/238320 ^@ NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) http://identifiers.org/clinvar/238321 ^@ NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) http://identifiers.org/clinvar/238322 ^@ NM_001113378.1(FANCI):c.3255+6dupT http://identifiers.org/clinvar/238323 ^@ NM_001113378.1(FANCI):c.3379A>G (p.Asn1127Asp) http://identifiers.org/clinvar/238324 ^@ NM_001113378.1(FANCI):c.3389T>A (p.Val1130Asp) http://identifiers.org/clinvar/238326 ^@ NM_001113378.1(FANCI):c.3592-8T>C http://identifiers.org/clinvar/238327 ^@ NM_001113378.1(FANCI):c.3925-4C>T http://identifiers.org/clinvar/239380 ^@ NM_002693.2(POLG):c.3075G>A (p.Leu1025=) http://identifiers.org/clinvar/239379 ^@ NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) http://identifiers.org/clinvar/236821 ^@ NM_000057.3(BLM):c.43C>T (p.Arg15Cys) http://identifiers.org/clinvar/236804 ^@ NM_000057.3(BLM):c.231A>G (p.Leu77=) http://identifiers.org/clinvar/236822 ^@ NM_000057.3(BLM):c.451A>G (p.Ile151Val) http://identifiers.org/clinvar/236823 ^@ NM_000057.3(BLM):c.671A>G (p.Gln224Arg) http://identifiers.org/clinvar/236824 ^@ NM_000057.3(BLM):c.700G>A (p.Asp234Asn) http://identifiers.org/clinvar/236825 ^@ NM_000057.3(BLM):c.716A>G (p.Asp239Gly) http://identifiers.org/clinvar/236826 ^@ NM_000057.3(BLM):c.727A>G (p.Ile243Val) http://identifiers.org/clinvar/236827 ^@ NM_000057.3(BLM):c.894G>A (p.Thr298=) http://identifiers.org/clinvar/236799 ^@ NM_000057.3(BLM):c.1086C>T (p.Asp362=) http://identifiers.org/clinvar/236800 ^@ NM_000057.3(BLM):c.1194C>T (p.Asn398=) http://identifiers.org/clinvar/236801 ^@ NM_000057.3(BLM):c.1467G>A (p.Arg489=) http://identifiers.org/clinvar/236802 ^@ NM_000057.3(BLM):c.1469C>G (p.Pro490Arg) http://identifiers.org/clinvar/236803 ^@ NM_000057.3(BLM):c.1496C>T (p.Ser499Phe) http://identifiers.org/clinvar/236805 ^@ NM_000057.3(BLM):c.2604G>A (p.Pro868=) http://identifiers.org/clinvar/236806 ^@ NM_000057.3(BLM):c.2822A>G (p.Gln941Arg) http://identifiers.org/clinvar/236807 ^@ NM_000057.3(BLM):c.2838A>G (p.Thr946=) http://identifiers.org/clinvar/236808 ^@ NM_000057.3(BLM):c.2871C>T (p.Asp957=) http://identifiers.org/clinvar/236809 ^@ NM_000057.3(BLM):c.2950G>A (p.Gly984Arg) http://identifiers.org/clinvar/236810 ^@ NM_000057.3(BLM):c.3041A>G (p.His1014Arg) http://identifiers.org/clinvar/236811 ^@ NM_000057.3(BLM):c.3210+4A>G http://identifiers.org/clinvar/236812 ^@ NM_000057.3(BLM):c.3238G>A (p.Asp1080Asn) http://identifiers.org/clinvar/236813 ^@ NM_000057.3(BLM):c.3242T>A (p.Val1081Glu) http://identifiers.org/clinvar/236814 ^@ NM_000057.3(BLM):c.3272A>G (p.His1091Arg) http://identifiers.org/clinvar/236815 ^@ NM_000057.3(BLM):c.3310G>A (p.Gly1104Ser) http://identifiers.org/clinvar/236816 ^@ NM_000057.3(BLM):c.3729C>T (p.Thr1243=) http://identifiers.org/clinvar/236817 ^@ NM_000057.3(BLM):c.3751+9A>C http://identifiers.org/clinvar/236818 ^@ NM_000057.3(BLM):c.3849G>A (p.Gln1283=) http://identifiers.org/clinvar/236819 ^@ NM_000057.3(BLM):c.3879A>G (p.Glu1293=) http://identifiers.org/clinvar/236820 ^@ NM_000057.3(BLM):c.4186T>C (p.Leu1396=) http://identifiers.org/clinvar/238885 ^@ NM_001271.3(CHD2):c.516A>G (p.Gln172=) http://identifiers.org/clinvar/238878 ^@ NM_001271.3(CHD2):c.1788T>C (p.Tyr596=) http://identifiers.org/clinvar/238879 ^@ NM_001271.3(CHD2):c.3126C>T (p.Asp1042=) http://identifiers.org/clinvar/238880 ^@ NM_001271.3(CHD2):c.3540C>T (p.Ser1180=) http://identifiers.org/clinvar/238881 ^@ NM_001271.3(CHD2):c.4219T>A (p.Ser1407Thr) http://identifiers.org/clinvar/238882 ^@ NM_001271.3(CHD2):c.4231_4233delAAA (p.Lys1411del) http://identifiers.org/clinvar/238883 ^@ NM_001271.3(CHD2):c.4284A>G (p.Lys1428=) http://identifiers.org/clinvar/238884 ^@ NM_001271.3(CHD2):c.4978G>A (p.Asp1660Asn) http://identifiers.org/clinvar/241369 ^@ NM_021005.3(NR2F2):c.129C>G (p.Pro43=) http://identifiers.org/clinvar/241370 ^@ NM_021005.3(NR2F2):c.709C>T (p.Gln237Ter) http://identifiers.org/clinvar/241562 ^@ NM_024675.3(PALB2):c.3351-?_*297+?del http://identifiers.org/clinvar/241522 ^@ NM_024675.3(PALB2):c.-200-?_*297+?dup http://identifiers.org/clinvar/239871 ^@ NM_004360.4(CDH1):c.-124-?_*2042+?dup4815 http://identifiers.org/clinvar/240077 ^@ NM_004862.3(LITAF):c.115C>T (p.Pro39Ser) http://identifiers.org/clinvar/240125 ^@ NM_005236.2(ERCC4):c.33C>T (p.Ala11=) http://identifiers.org/clinvar/240124 ^@ NM_005236.2(ERCC4):c.252C>T (p.Leu84=) http://identifiers.org/clinvar/240126 ^@ NM_005236.2(ERCC4):c.503C>G (p.Ala168Gly) http://identifiers.org/clinvar/240123 ^@ NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) http://identifiers.org/clinvar/238264 ^@ NM_001040113.1(MYH11):c.5821C>A (p.Gln1941Lys) http://identifiers.org/clinvar/238263 ^@ NM_001040113.1(MYH11):c.5819dupC (p.Gln1941Thrfs) http://identifiers.org/clinvar/238262 ^@ NM_001040113.1(MYH11):c.5392G>A (p.Glu1798Lys) http://identifiers.org/clinvar/238260 ^@ NM_001040113.1(MYH11):c.2862G>T (p.Lys954Asn) http://identifiers.org/clinvar/238259 ^@ NM_001040113.1(MYH11):c.2562G>A (p.Val854=) http://identifiers.org/clinvar/238258 ^@ NM_001040113.1(MYH11):c.1935G>A (p.Ser645=) http://identifiers.org/clinvar/238257 ^@ NM_001040113.1(MYH11):c.1595C>T (p.Pro532Leu) http://identifiers.org/clinvar/238256 ^@ NM_001040113.1(MYH11):c.1447A>G (p.Ile483Val) http://identifiers.org/clinvar/238255 ^@ NM_001040113.1(MYH11):c.1270-6_1270-5dupCT http://identifiers.org/clinvar/238265 ^@ NM_001040113.1(MYH11):c.690G>A (p.Pro230=) http://identifiers.org/clinvar/238261 ^@ NM_001040113.1(MYH11):c.429G>A (p.Lys143=) http://identifiers.org/clinvar/237966 ^@ NM_000548.4(TSC2):c.148A>G (p.Met50Val) http://identifiers.org/clinvar/237991 ^@ NM_000548.4(TSC2):c.244T>C (p.Trp82Arg) http://identifiers.org/clinvar/238001 ^@ NM_000548.4(TSC2):c.282G>A (p.Pro94=) http://identifiers.org/clinvar/238003 ^@ NM_000548.4(TSC2):c.291C>G (p.Ala97=) http://identifiers.org/clinvar/238006 ^@ NM_000548.4(TSC2):c.301G>A (p.Val101Met) http://identifiers.org/clinvar/238019 ^@ NM_000548.4(TSC2):c.352G>T (p.Val118Phe) http://identifiers.org/clinvar/238032 ^@ NM_000548.4(TSC2):c.391C>A (p.Pro131Thr) http://identifiers.org/clinvar/238050 ^@ NM_000548.4(TSC2):c.445A>G (p.Asn149Asp) http://identifiers.org/clinvar/238063 ^@ NM_000548.4(TSC2):c.481+8C>T http://identifiers.org/clinvar/238088 ^@ NM_000548.4(TSC2):c.566G>A (p.Cys189Tyr) http://identifiers.org/clinvar/238089 ^@ NM_000548.4(TSC2):c.630G>A (p.Ala210=) http://identifiers.org/clinvar/238090 ^@ NM_000548.4(TSC2):c.632C>T (p.Ser211Phe) http://identifiers.org/clinvar/238091 ^@ NM_000548.4(TSC2):c.727C>G (p.Leu243Val) http://identifiers.org/clinvar/238092 ^@ NM_000548.4(TSC2):c.775-5C>T http://identifiers.org/clinvar/238093 ^@ NM_000548.4(TSC2):c.814G>A (p.Ala272Thr) http://identifiers.org/clinvar/238094 ^@ NM_000548.4(TSC2):c.833A>G (p.His278Arg) http://identifiers.org/clinvar/238095 ^@ NM_000548.4(TSC2):c.861G>C (p.Glu287Asp) http://identifiers.org/clinvar/238096 ^@ NM_000548.4(TSC2):c.921C>G (p.His307Gln) http://identifiers.org/clinvar/238097 ^@ NM_000548.4(TSC2):c.929A>G (p.Tyr310Cys) http://identifiers.org/clinvar/238098 ^@ NM_000548.4(TSC2):c.941A>G (p.Asn314Ser) http://identifiers.org/clinvar/238099 ^@ NM_000548.4(TSC2):c.947C>A (p.Pro316Gln) http://identifiers.org/clinvar/237958 ^@ NM_000548.4(TSC2):c.1071G>A (p.Ala357=) http://identifiers.org/clinvar/237959 ^@ NM_000548.4(TSC2):c.1133C>G (p.Pro378Arg) http://identifiers.org/clinvar/237960 ^@ NM_000548.4(TSC2):c.1160dupT (p.Leu388Valfs) http://identifiers.org/clinvar/237961 ^@ NM_000548.4(TSC2):c.1213G>C (p.Glu405Gln) http://identifiers.org/clinvar/237962 ^@ NM_000548.4(TSC2):c.1275C>A (p.Asn425Lys) http://identifiers.org/clinvar/237963 ^@ NM_000548.4(TSC2):c.1293G>T (p.Ala431=) http://identifiers.org/clinvar/237964 ^@ NM_000548.4(TSC2):c.1373G>A (p.Arg458Gln) http://identifiers.org/clinvar/237965 ^@ NM_000548.4(TSC2):c.1398G>A (p.Leu466=) http://identifiers.org/clinvar/237967 ^@ NM_000548.4(TSC2):c.1599+10G>A http://identifiers.org/clinvar/237968 ^@ NM_000548.4(TSC2):c.1600-10C>T http://identifiers.org/clinvar/237969 ^@ NM_000548.4(TSC2):c.1613C>T (p.Ser538Phe) http://identifiers.org/clinvar/237970 ^@ NM_000548.4(TSC2):c.1668C>G (p.Ser556=) http://identifiers.org/clinvar/237971 ^@ NM_000548.4(TSC2):c.1693C>G (p.Leu565Val) http://identifiers.org/clinvar/237972 ^@ NM_000548.4(TSC2):c.1840G>C (p.Ala614Pro) http://identifiers.org/clinvar/237973 ^@ NM_000548.4(TSC2):c.1979G>A (p.Ser660Asn) http://identifiers.org/clinvar/237974 ^@ NM_000548.4(TSC2):c.1981G>A (p.Gly661Ser) http://identifiers.org/clinvar/237975 ^@ NM_000548.4(TSC2):c.2023G>A (p.Ala675Thr) http://identifiers.org/clinvar/237976 ^@ NM_000548.4(TSC2):c.2035G>A (p.Val679Met) http://identifiers.org/clinvar/237977 ^@ NM_000548.4(TSC2):c.2042T>A (p.Leu681Gln) http://identifiers.org/clinvar/237978 ^@ NM_000548.4(TSC2):c.2046G>A (p.Gly682=) http://identifiers.org/clinvar/237979 ^@ NM_000548.4(TSC2):c.2047T>C (p.Ser683Pro) http://identifiers.org/clinvar/237980 ^@ NM_000548.4(TSC2):c.2079G>C (p.Leu693=) http://identifiers.org/clinvar/237981 ^@ NM_000548.4(TSC2):c.2098-5C>T http://identifiers.org/clinvar/237982 ^@ NM_000548.4(TSC2):c.2154C>A (p.Arg718=) http://identifiers.org/clinvar/237983 ^@ NM_000548.4(TSC2):c.2167A>G (p.Ile723Val) http://identifiers.org/clinvar/237984 ^@ NM_000548.4(TSC2):c.2167A>T (p.Ile723Phe) http://identifiers.org/clinvar/237985 ^@ NM_000548.4(TSC2):c.2211C>T (p.Leu737=) http://identifiers.org/clinvar/237986 ^@ NM_000548.4(TSC2):c.2273C>G (p.Ser758Cys) http://identifiers.org/clinvar/237987 ^@ NM_000548.4(TSC2):c.2296G>A (p.Val766Met) http://identifiers.org/clinvar/237988 ^@ NM_000548.4(TSC2):c.2358C>T (p.Arg786=) http://identifiers.org/clinvar/237989 ^@ NM_000548.4(TSC2):c.2429_2461del33insC (p.Ile810Thrfs) http://identifiers.org/clinvar/237990 ^@ NM_000548.4(TSC2):c.2436C>T (p.Ser812=) http://identifiers.org/clinvar/237992 ^@ NM_000548.4(TSC2):c.2520C>G (p.Ala840=) http://identifiers.org/clinvar/237993 ^@ NM_000548.4(TSC2):c.2520C>T (p.Ala840=) http://identifiers.org/clinvar/237994 ^@ NM_000548.4(TSC2):c.2521G>A (p.Val841Ile) http://identifiers.org/clinvar/237995 ^@ NM_000548.4(TSC2):c.2546-10A>G http://identifiers.org/clinvar/237996 ^@ NM_000548.4(TSC2):c.2570A>G (p.Tyr857Cys) http://identifiers.org/clinvar/237997 ^@ NM_000548.4(TSC2):c.2576A>C (p.Asn859Thr) http://identifiers.org/clinvar/237998 ^@ NM_000548.4(TSC2):c.2601T>C (p.Ser867=) http://identifiers.org/clinvar/237999 ^@ NM_000548.4(TSC2):c.2647C>G (p.Gln883Glu) http://identifiers.org/clinvar/238000 ^@ NM_000548.4(TSC2):c.2821A>G (p.Asn941Asp) http://identifiers.org/clinvar/238002 ^@ NM_000548.4(TSC2):c.2916C>T (p.Ala972=) http://identifiers.org/clinvar/238004 ^@ NM_000548.4(TSC2):c.2966+6G>A http://identifiers.org/clinvar/238005 ^@ NM_000548.4(TSC2):c.2967-6C>T http://identifiers.org/clinvar/238007 ^@ NM_000548.4(TSC2):c.3028C>G (p.Gln1010Glu) http://identifiers.org/clinvar/238008 ^@ NM_000548.4(TSC2):c.3033T>C (p.Ala1011=) http://identifiers.org/clinvar/238009 ^@ NM_000548.4(TSC2):c.3054C>T (p.Leu1018=) http://identifiers.org/clinvar/238010 ^@ NM_000548.4(TSC2):c.3069G>A (p.Thr1023=) http://identifiers.org/clinvar/238011 ^@ NM_000548.4(TSC2):c.3102C>G (p.Val1034=) http://identifiers.org/clinvar/238012 ^@ NM_000548.4(TSC2):c.3102C>T (p.Val1034=) http://identifiers.org/clinvar/238013 ^@ NM_000548.4(TSC2):c.3155T>C (p.Leu1052Pro) http://identifiers.org/clinvar/238014 ^@ NM_000548.4(TSC2):c.3192C>A (p.Asn1064Lys) http://identifiers.org/clinvar/238015 ^@ NM_000548.4(TSC2):c.3217G>A (p.Val1073Met) http://identifiers.org/clinvar/238016 ^@ NM_000548.4(TSC2):c.3276G>A (p.Pro1092=) http://identifiers.org/clinvar/238017 ^@ NM_000548.4(TSC2):c.3347C>G (p.Ala1116Gly) http://identifiers.org/clinvar/238018 ^@ NM_000548.4(TSC2):c.3375G>A (p.Arg1125=) http://identifiers.org/clinvar/238020 ^@ NM_000548.4(TSC2):c.3534G>A (p.Gln1178=) http://identifiers.org/clinvar/238021 ^@ NM_000548.4(TSC2):c.3552G>A (p.Ala1184=) http://identifiers.org/clinvar/238022 ^@ NM_000548.4(TSC2):c.3610+10G>A http://identifiers.org/clinvar/238023 ^@ NM_000548.4(TSC2):c.3611-2A>G http://identifiers.org/clinvar/238024 ^@ NM_000548.4(TSC2):c.3645G>T (p.Pro1215=) http://identifiers.org/clinvar/238025 ^@ NM_000548.4(TSC2):c.3759G>C (p.Leu1253=) http://identifiers.org/clinvar/238026 ^@ NM_000548.4(TSC2):c.3762G>A (p.Ser1254=) http://identifiers.org/clinvar/238027 ^@ NM_000548.4(TSC2):c.3834G>C (p.Leu1278=) http://identifiers.org/clinvar/238028 ^@ NM_000548.4(TSC2):c.3850C>T (p.Gln1284Ter) http://identifiers.org/clinvar/238029 ^@ NM_000548.4(TSC2):c.3883+11_3883+12delTC http://identifiers.org/clinvar/238030 ^@ NM_000548.4(TSC2):c.3888C>T (p.Ser1296=) http://identifiers.org/clinvar/238031 ^@ NM_000548.4(TSC2):c.3919G>A (p.Glu1307Lys) http://identifiers.org/clinvar/238033 ^@ NM_000548.4(TSC2):c.3924T>G (p.Val1308=) http://identifiers.org/clinvar/238034 ^@ NM_000548.4(TSC2):c.3969G>A (p.Ala1323=) http://identifiers.org/clinvar/238035 ^@ NM_000548.4(TSC2):c.3971T>C (p.Leu1324Pro) http://identifiers.org/clinvar/238036 ^@ NM_000548.4(TSC2):c.3981C>T (p.Asp1327=) http://identifiers.org/clinvar/238037 ^@ NM_000548.4(TSC2):c.3990G>A (p.Thr1330=) http://identifiers.org/clinvar/238038 ^@ NM_000548.4(TSC2):c.3998A>G (p.Tyr1333Cys) http://identifiers.org/clinvar/238039 ^@ NM_000548.4(TSC2):c.4030_4032delGAG (p.Glu1344del) http://identifiers.org/clinvar/238040 ^@ NM_000548.4(TSC2):c.4051G>A (p.Glu1351Lys) http://identifiers.org/clinvar/238041 ^@ NM_000548.4(TSC2):c.4061G>A (p.Gly1354Asp) http://identifiers.org/clinvar/238042 ^@ NM_000548.4(TSC2):c.4070T>A (p.Ile1357Asn) http://identifiers.org/clinvar/238043 ^@ NM_000548.4(TSC2):c.4072C>G (p.Pro1358Ala) http://identifiers.org/clinvar/238044 ^@ NM_000548.4(TSC2):c.4168G>A (p.Glu1390Lys) http://identifiers.org/clinvar/238045 ^@ NM_000548.4(TSC2):c.4346C>T (p.Ser1449Phe) http://identifiers.org/clinvar/238046 ^@ NM_000548.4(TSC2):c.4352G>A (p.Arg1451His) http://identifiers.org/clinvar/238048 ^@ NM_000548.4(TSC2):c.4397C>T (p.Ser1466Leu) http://identifiers.org/clinvar/238049 ^@ NM_000548.4(TSC2):c.4425A>C (p.Val1475=) http://identifiers.org/clinvar/238051 ^@ NM_000548.4(TSC2):c.4469A>G (p.Glu1490Gly) http://identifiers.org/clinvar/238047 ^@ NM_000548.4(TSC2):c.4473delA (p.Val1492Cysfs) http://identifiers.org/clinvar/238052 ^@ NM_000548.4(TSC2):c.4477C>G (p.Pro1493Ala) http://identifiers.org/clinvar/238053 ^@ NM_000548.4(TSC2):c.4493+7C>A http://identifiers.org/clinvar/238054 ^@ NM_000548.4(TSC2):c.4569+6C>T http://identifiers.org/clinvar/238055 ^@ NM_000548.4(TSC2):c.4633A>G (p.Ile1545Val) http://identifiers.org/clinvar/238056 ^@ NM_000548.4(TSC2):c.4639G>A (p.Val1547Ile) http://identifiers.org/clinvar/238057 ^@ NM_000548.4(TSC2):c.4656A>G (p.Glu1552=) http://identifiers.org/clinvar/238058 ^@ NM_000548.4(TSC2):c.4663-3C>T http://identifiers.org/clinvar/238059 ^@ NM_000548.4(TSC2):c.4716G>C (p.Thr1572=) http://identifiers.org/clinvar/238060 ^@ NM_000548.4(TSC2):c.4728G>C (p.Thr1576=) http://identifiers.org/clinvar/238061 ^@ NM_000548.4(TSC2):c.4795G>A (p.Val1599Met) http://identifiers.org/clinvar/238062 ^@ NM_000548.4(TSC2):c.4809C>T (p.Asp1603=) http://identifiers.org/clinvar/238064 ^@ NM_000548.4(TSC2):c.4822T>A (p.Tyr1608Asn) http://identifiers.org/clinvar/238065 ^@ NM_000548.4(TSC2):c.4849+4C>T http://identifiers.org/clinvar/238066 ^@ NM_000548.4(TSC2):c.4852G>A (p.Val1618Ile) http://identifiers.org/clinvar/238067 ^@ NM_000548.4(TSC2):c.4863C>T (p.Ile1621=) http://identifiers.org/clinvar/238068 ^@ NM_000548.4(TSC2):c.4869C>T (p.Thr1623=) http://identifiers.org/clinvar/238069 ^@ NM_000548.4(TSC2):c.4929C>T (p.Asn1643=) http://identifiers.org/clinvar/238070 ^@ NM_000548.4(TSC2):c.4947C>G (p.Val1649=) http://identifiers.org/clinvar/238071 ^@ NM_000548.4(TSC2):c.4970T>A (p.Phe1657Tyr) http://identifiers.org/clinvar/238072 ^@ NM_000548.4(TSC2):c.5031C>T (p.Asp1677=) http://identifiers.org/clinvar/238073 ^@ NM_000548.4(TSC2):c.5034C>T (p.Tyr1678=) http://identifiers.org/clinvar/238074 ^@ NM_000548.4(TSC2):c.5136C>T (p.Ala1712=) http://identifiers.org/clinvar/238075 ^@ NM_000548.4(TSC2):c.5140delC (p.Gln1714Argfs) http://identifiers.org/clinvar/238076 ^@ NM_000548.4(TSC2):c.5160+11dupG http://identifiers.org/clinvar/238077 ^@ NM_000548.4(TSC2):c.5201A>T (p.Asp1734Val) http://identifiers.org/clinvar/238078 ^@ NM_000548.4(TSC2):c.5209C>T (p.Pro1737Ser) http://identifiers.org/clinvar/238079 ^@ NM_000548.4(TSC2):c.5259+2_5259+28dup27 http://identifiers.org/clinvar/238080 ^@ NM_000548.4(TSC2):c.5266delG (p.Glu1756Argfs) http://identifiers.org/clinvar/238081 ^@ NM_000548.4(TSC2):c.5274C>T (p.Ala1758=) http://identifiers.org/clinvar/238082 ^@ NM_000548.4(TSC2):c.5292C>T (p.Ser1764=) http://identifiers.org/clinvar/238083 ^@ NM_000548.4(TSC2):c.5318A>G (p.His1773Arg) http://identifiers.org/clinvar/238084 ^@ NM_000548.4(TSC2):c.5319T>C (p.His1773=) http://identifiers.org/clinvar/238085 ^@ NM_000548.4(TSC2):c.5342C>T (p.Pro1781Leu) http://identifiers.org/clinvar/238086 ^@ NM_000548.4(TSC2):c.5346C>T (p.Ala1782=) http://identifiers.org/clinvar/238087 ^@ NM_000548.4(TSC2):c.5364T>C (p.Tyr1788=) http://identifiers.org/clinvar/241566 ^@ NM_024675.3(PALB2):c.3553T>C (p.Tyr1185His) http://identifiers.org/clinvar/241564 ^@ NM_024675.3(PALB2):c.3420G>A (p.Trp1140Ter) http://identifiers.org/clinvar/241563 ^@ NM_024675.3(PALB2):c.3355C>T (p.Leu1119=) http://identifiers.org/clinvar/241561 ^@ NM_024675.3(PALB2):c.3328C>G (p.Leu1110Val) http://identifiers.org/clinvar/241560 ^@ NM_024675.3(PALB2):c.3179G>C (p.Cys1060Ser) http://identifiers.org/clinvar/241559 ^@ NM_024675.3(PALB2):c.3154G>A (p.Asp1052Asn) http://identifiers.org/clinvar/241557 ^@ NM_024675.3(PALB2):c.2964A>G (p.Gln988=) http://identifiers.org/clinvar/241556 ^@ NM_024675.3(PALB2):c.2928G>A (p.Arg976=) http://identifiers.org/clinvar/241554 ^@ NM_024675.3(PALB2):c.2881C>A (p.Leu961Met) http://identifiers.org/clinvar/241553 ^@ NM_024675.3(PALB2):c.2840T>C (p.Leu947Ser) http://identifiers.org/clinvar/241552 ^@ NM_024675.3(PALB2):c.2836G>T (p.Ala946Ser) http://identifiers.org/clinvar/241551 ^@ NM_024675.3(PALB2):c.2801_2803dupTAG (p.Val934_Ala935insVal) http://identifiers.org/clinvar/241550 ^@ NM_024675.3(PALB2):c.2792T>C (p.Leu931Pro) http://identifiers.org/clinvar/241549 ^@ NM_024675.3(PALB2):c.2653C>A (p.Pro885Thr) http://identifiers.org/clinvar/241548 ^@ NM_024675.3(PALB2):c.2624T>C (p.Met875Thr) http://identifiers.org/clinvar/241547 ^@ NM_024675.3(PALB2):c.2594C>G (p.Ser865Ter) http://identifiers.org/clinvar/241546 ^@ NM_024675.3(PALB2):c.2509G>T (p.Glu837Ter) http://identifiers.org/clinvar/241545 ^@ NM_024675.3(PALB2):c.2508C>T (p.Val836=) http://identifiers.org/clinvar/241544 ^@ NM_024675.3(PALB2):c.2427A>C (p.Thr809=) http://identifiers.org/clinvar/241543 ^@ NM_024675.3(PALB2):c.2377G>A (p.Gly793Ser) http://identifiers.org/clinvar/241542 ^@ NM_024675.3(PALB2):c.2282C>T (p.Ala761Val) http://identifiers.org/clinvar/241541 ^@ NM_024675.3(PALB2):c.2201C>A (p.Thr734Asn) http://identifiers.org/clinvar/241539 ^@ NM_024675.3(PALB2):c.2079delT (p.His693Glnfs) http://identifiers.org/clinvar/241538 ^@ NM_024675.3(PALB2):c.2067G>T (p.Ser689=) http://identifiers.org/clinvar/241537 ^@ NM_024675.3(PALB2):c.2066C>T (p.Ser689Leu) http://identifiers.org/clinvar/241536 ^@ NM_024675.3(PALB2):c.2058G>T (p.Arg686Ser) http://identifiers.org/clinvar/241535 ^@ NM_024675.3(PALB2):c.1910C>T (p.Pro637Leu) http://identifiers.org/clinvar/241534 ^@ NM_024675.3(PALB2):c.1809A>G (p.Leu603=) http://identifiers.org/clinvar/241533 ^@ NM_024675.3(PALB2):c.1753G>A (p.Asp585Asn) http://identifiers.org/clinvar/241531 ^@ NM_024675.3(PALB2):c.1468C>G (p.Pro490Ala) http://identifiers.org/clinvar/241530 ^@ NM_024675.3(PALB2):c.1463G>T (p.Ser488Ile) http://identifiers.org/clinvar/241529 ^@ NM_024675.3(PALB2):c.1455T>G (p.Thr485=) http://identifiers.org/clinvar/241528 ^@ NM_024675.3(PALB2):c.1422T>G (p.Ser474Arg) http://identifiers.org/clinvar/241526 ^@ NM_024675.3(PALB2):c.1374T>C (p.Thr458=) http://identifiers.org/clinvar/241527 ^@ NM_024675.3(PALB2):c.1369G>T (p.Glu457Ter) http://identifiers.org/clinvar/241525 ^@ NM_024675.3(PALB2):c.1226A>G (p.Tyr409Cys) http://identifiers.org/clinvar/241524 ^@ NM_024675.3(PALB2):c.1160C>G (p.Ser387Cys) http://identifiers.org/clinvar/241523 ^@ NM_024675.3(PALB2):c.1057A>G (p.Lys353Glu) http://identifiers.org/clinvar/241574 ^@ NM_024675.3(PALB2):c.991G>C (p.Glu331Gln) http://identifiers.org/clinvar/241573 ^@ NM_024675.3(PALB2):c.907C>G (p.Leu303Val) http://identifiers.org/clinvar/241572 ^@ NM_024675.3(PALB2):c.871G>A (p.Ala291Thr) http://identifiers.org/clinvar/241569 ^@ NM_024675.3(PALB2):c.517G>A (p.Gly173Arg) http://identifiers.org/clinvar/241565 ^@ NM_024675.3(PALB2):c.474G>A (p.Gln158=) http://identifiers.org/clinvar/241567 ^@ NM_024675.3(PALB2):c.365A>G (p.Asp122Gly) http://identifiers.org/clinvar/241555 ^@ NM_024675.3(PALB2):c.288A>C (p.Thr96=) http://identifiers.org/clinvar/241540 ^@ NM_024675.3(PALB2):c.212-3C>T http://identifiers.org/clinvar/241532 ^@ NM_024675.3(PALB2):c.170G>A (p.Cys57Tyr) http://identifiers.org/clinvar/241570 ^@ NM_024675.3(PALB2):c.79G>T (p.Glu27Ter) http://identifiers.org/clinvar/241568 ^@ NM_024675.3(PALB2):c.48+7G>C http://identifiers.org/clinvar/241571 ^@ NM_024675.3(PALB2):c.7G>T (p.Glu3Ter) http://identifiers.org/clinvar/241558 ^@ NM_024675.3(PALB2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/238627 ^@ NM_001199107.1(TBC1D24):c.192C>T (p.Cys64=) http://identifiers.org/clinvar/238626 ^@ NM_001199107.1(TBC1D24):c.1392C>T (p.Thr464=) http://identifiers.org/clinvar/241953 ^@ NM_145239.2(PRRT2):c.719G>A (p.Arg240Gln) http://identifiers.org/clinvar/241697 ^@ NM_032444.2(SLX4):c.5501A>G (p.Asn1834Ser) http://identifiers.org/clinvar/241695 ^@ NM_032444.2(SLX4):c.5248_5249delGCinsTT (p.Ala1750Leu) http://identifiers.org/clinvar/241694 ^@ NM_032444.2(SLX4):c.5146T>A (p.Ser1716Thr) http://identifiers.org/clinvar/241693 ^@ NM_032444.2(SLX4):c.4600G>A (p.Gly1534Ser) http://identifiers.org/clinvar/241692 ^@ NM_032444.2(SLX4):c.4485G>C (p.Ala1495=) http://identifiers.org/clinvar/241691 ^@ NM_032444.2(SLX4):c.4427C>G (p.Thr1476Ser) http://identifiers.org/clinvar/241690 ^@ NM_032444.2(SLX4):c.4338C>T (p.Thr1446=) http://identifiers.org/clinvar/241688 ^@ NM_032444.2(SLX4):c.4115G>A (p.Arg1372Gln) http://identifiers.org/clinvar/241687 ^@ NM_032444.2(SLX4):c.4068G>A (p.Pro1356=) http://identifiers.org/clinvar/241686 ^@ NM_032444.2(SLX4):c.4057C>A (p.His1353Asn) http://identifiers.org/clinvar/241685 ^@ NM_032444.2(SLX4):c.3963G>A (p.Pro1321=) http://identifiers.org/clinvar/241684 ^@ NM_032444.2(SLX4):c.3857C>T (p.Ala1286Val) http://identifiers.org/clinvar/241683 ^@ NM_032444.2(SLX4):c.3738C>T (p.Ser1246=) http://identifiers.org/clinvar/241682 ^@ NM_032444.2(SLX4):c.3726_3729delGAGC (p.Ser1243Alafs) http://identifiers.org/clinvar/241681 ^@ NM_032444.2(SLX4):c.3673A>G (p.Asn1225Asp) http://identifiers.org/clinvar/241680 ^@ NM_032444.2(SLX4):c.3648G>T (p.Gln1216His) http://identifiers.org/clinvar/241678 ^@ NM_032444.2(SLX4):c.3089C>T (p.Pro1030Leu) http://identifiers.org/clinvar/241677 ^@ NM_032444.2(SLX4):c.2924C>T (p.Pro975Leu) http://identifiers.org/clinvar/241676 ^@ NM_032444.2(SLX4):c.2786C>T (p.Pro929Leu) http://identifiers.org/clinvar/241675 ^@ NM_032444.2(SLX4):c.2748C>T (p.Ala916=) http://identifiers.org/clinvar/241674 ^@ NM_032444.2(SLX4):c.2746G>T (p.Ala916Ser) http://identifiers.org/clinvar/241673 ^@ NM_032444.2(SLX4):c.2628C>T (p.Asp876=) http://identifiers.org/clinvar/241672 ^@ NM_032444.2(SLX4):c.2609C>T (p.Ala870Val) http://identifiers.org/clinvar/241669 ^@ NM_032444.2(SLX4):c.2014-10_2014-8delCCT http://identifiers.org/clinvar/241668 ^@ NM_032444.2(SLX4):c.1898G>A (p.Gly633Asp) http://identifiers.org/clinvar/241667 ^@ NM_032444.2(SLX4):c.1800G>A (p.Pro600=) http://identifiers.org/clinvar/241666 ^@ NM_032444.2(SLX4):c.1707G>A (p.Pro569=) http://identifiers.org/clinvar/241702 ^@ NM_032444.2(SLX4):c.999C>T (p.Ile333=) http://identifiers.org/clinvar/241700 ^@ NM_032444.2(SLX4):c.806C>T (p.Ala269Val) http://identifiers.org/clinvar/241699 ^@ NM_032444.2(SLX4):c.801G>A (p.Ala267=) http://identifiers.org/clinvar/241698 ^@ NM_032444.2(SLX4):c.590T>C (p.Val197Ala) http://identifiers.org/clinvar/241696 ^@ NM_032444.2(SLX4):c.528A>C (p.Lys176Asn) http://identifiers.org/clinvar/241689 ^@ NM_032444.2(SLX4):c.421G>T (p.Gly141Trp) http://identifiers.org/clinvar/241679 ^@ NM_032444.2(SLX4):c.336G>A (p.Pro112=) http://identifiers.org/clinvar/241671 ^@ NM_032444.2(SLX4):c.254A>G (p.Gln85Arg) http://identifiers.org/clinvar/241670 ^@ NM_032444.2(SLX4):c.231A>G (p.Gln77=) http://identifiers.org/clinvar/241701 ^@ NM_032444.2(SLX4):c.90C>T (p.Ser30=) http://identifiers.org/clinvar/241705 ^@ NM_032575.2(GLIS2):c.415G>A (p.Gly139Arg) http://identifiers.org/clinvar/241703 ^@ NM_032575.2(GLIS2):c.1194_1208dupGGGCCCTGGGCTGCC (p.Pro405_Val406insGlyLeuProGlyPro) http://identifiers.org/clinvar/241704 ^@ NM_032575.2(GLIS2):c.1539G>A (p.Pro513=) http://identifiers.org/clinvar/241507 ^@ NM_024589.2(ROGDI):c.783C>T (p.Phe261=) http://identifiers.org/clinvar/241506 ^@ NM_024589.2(ROGDI):c.243C>T (p.Ala81=) http://identifiers.org/clinvar/241026 ^@ NM_015272.4(RPGRIP1L):c.3562G>A (p.Val1188Met) http://identifiers.org/clinvar/241025 ^@ NM_015272.4(RPGRIP1L):c.1120delC (p.His374Metfs) http://identifiers.org/clinvar/241367 ^@ NM_020988.2(GNAO1):c.75G>A (p.Glu25=) http://identifiers.org/clinvar/241366 ^@ NM_020988.2(GNAO1):c.654C>T (p.Asp218=) http://identifiers.org/clinvar/241368 ^@ NM_020988.2(GNAO1):c.993C>T (p.Asn331=) http://identifiers.org/clinvar/239872 ^@ NM_004360.4(CDH1):c.-49G>T http://identifiers.org/clinvar/239906 ^@ NM_004360.4(CDH1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/239909 ^@ NM_004360.4(CDH1):c.5G>T (p.Gly2Val) http://identifiers.org/clinvar/239913 ^@ NM_004360.4(CDH1):c.79C>T (p.Pro27Ser) http://identifiers.org/clinvar/239883 ^@ NM_004360.4(CDH1):c.150C>A (p.Arg50=) http://identifiers.org/clinvar/239886 ^@ NM_004360.4(CDH1):c.163+10_163+17dupCGCTGCCG http://identifiers.org/clinvar/239891 ^@ NM_004360.4(CDH1):c.220C>T (p.Arg74Ter) http://identifiers.org/clinvar/239899 ^@ NM_004360.4(CDH1):c.249T>C (p.Ile83=) http://identifiers.org/clinvar/239901 ^@ NM_004360.4(CDH1):c.254T>C (p.Val85Ala) http://identifiers.org/clinvar/239902 ^@ NM_004360.4(CDH1):c.261G>C (p.Arg87Ser) http://identifiers.org/clinvar/239903 ^@ NM_004360.4(CDH1):c.360dupG (p.His121Alafs) http://identifiers.org/clinvar/239905 ^@ NM_004360.4(CDH1):c.370C>T (p.Arg124Cys) http://identifiers.org/clinvar/239904 ^@ NM_004360.4(CDH1):c.388-4T>C http://identifiers.org/clinvar/239907 ^@ NM_004360.4(CDH1):c.488G>C (p.Cys163Ser) http://identifiers.org/clinvar/239908 ^@ NM_004360.4(CDH1):c.570C>T (p.Tyr190=) http://identifiers.org/clinvar/239910 ^@ NM_004360.4(CDH1):c.653A>G (p.Glu218Gly) http://identifiers.org/clinvar/239911 ^@ NM_004360.4(CDH1):c.700G>A (p.Ala234Thr) http://identifiers.org/clinvar/239912 ^@ NM_004360.4(CDH1):c.795G>A (p.Glu265=) http://identifiers.org/clinvar/239914 ^@ NM_004360.4(CDH1):c.832+1G>T http://identifiers.org/clinvar/239915 ^@ NM_004360.4(CDH1):c.833-9C>G http://identifiers.org/clinvar/239916 ^@ NM_004360.4(CDH1):c.896C>G (p.Ala299Gly) http://identifiers.org/clinvar/239873 ^@ NM_004360.4(CDH1):c.1009-6C>T http://identifiers.org/clinvar/239874 ^@ NM_004360.4(CDH1):c.1023T>C (p.Tyr341=) http://identifiers.org/clinvar/239875 ^@ NM_004360.4(CDH1):c.1036C>G (p.Gln346Glu) http://identifiers.org/clinvar/239876 ^@ NM_004360.4(CDH1):c.1228G>C (p.Glu410Gln) http://identifiers.org/clinvar/239877 ^@ NM_004360.4(CDH1):c.1233T>C (p.Ala411=) http://identifiers.org/clinvar/239878 ^@ NM_004360.4(CDH1):c.1259G>A (p.Gly420Asp) http://identifiers.org/clinvar/239879 ^@ NM_004360.4(CDH1):c.1416C>A (p.Thr472=) http://identifiers.org/clinvar/239880 ^@ NM_004360.4(CDH1):c.1466C>T (p.Pro489Leu) http://identifiers.org/clinvar/239881 ^@ NM_004360.4(CDH1):c.1479G>A (p.Val493=) http://identifiers.org/clinvar/239882 ^@ NM_004360.4(CDH1):c.1497T>C (p.Phe499=) http://identifiers.org/clinvar/239884 ^@ NM_004360.4(CDH1):c.1526C>A (p.Thr509Asn) http://identifiers.org/clinvar/239885 ^@ NM_004360.4(CDH1):c.1566-7C>T http://identifiers.org/clinvar/239887 ^@ NM_004360.4(CDH1):c.1726A>T (p.Thr576Ser) http://identifiers.org/clinvar/239888 ^@ NM_004360.4(CDH1):c.1800A>G (p.Ile600Met) http://identifiers.org/clinvar/239889 ^@ NM_004360.4(CDH1):c.2098C>G (p.Pro700Ala) http://identifiers.org/clinvar/239890 ^@ NM_004360.4(CDH1):c.2165T>C (p.Ile722Thr) http://identifiers.org/clinvar/239892 ^@ NM_004360.4(CDH1):c.2282_2284delGAG (p.Gly761del) http://identifiers.org/clinvar/239893 ^@ NM_004360.4(CDH1):c.2332G>A (p.Ala778Thr) http://identifiers.org/clinvar/239894 ^@ NM_004360.4(CDH1):c.2435A>G (p.Asp812Gly) http://identifiers.org/clinvar/239895 ^@ NM_004360.4(CDH1):c.2454T>C (p.Ala818=) http://identifiers.org/clinvar/239896 ^@ NM_004360.4(CDH1):c.2458A>G (p.Thr820Ala) http://identifiers.org/clinvar/239897 ^@ NM_004360.4(CDH1):c.2467A>G (p.Thr823Ala) http://identifiers.org/clinvar/239898 ^@ NM_004360.4(CDH1):c.2490G>A (p.Leu830=) http://identifiers.org/clinvar/239900 ^@ NM_004360.4(CDH1):c.2535G>A (p.Leu845=) http://identifiers.org/clinvar/239032 ^@ NM_001605.2(AARS):c.2593G>A (p.Gly865Ser) http://identifiers.org/clinvar/239031 ^@ NM_001605.2(AARS):c.1897C>T (p.Arg633Cys) http://identifiers.org/clinvar/239030 ^@ NM_001605.2(AARS):c.1404C>T (p.Tyr468=) http://identifiers.org/clinvar/239034 ^@ NM_001605.2(AARS):c.510C>A (p.Asn170Lys) http://identifiers.org/clinvar/241466 ^@ NM_024306.4(FA2H):c.821_822delCT (p.Pro274Argfs) http://identifiers.org/clinvar/241464 ^@ NM_024306.4(FA2H):c.691T>C (p.Tyr231His) http://identifiers.org/clinvar/241463 ^@ NM_024306.4(FA2H):c.649G>A (p.Gly217Arg) http://identifiers.org/clinvar/241462 ^@ NM_024306.4(FA2H):c.401T>G (p.Val134Gly) http://identifiers.org/clinvar/241461 ^@ NM_024306.4(FA2H):c.338G>A (p.Arg113Gln) http://identifiers.org/clinvar/241465 ^@ NM_024306.4(FA2H):c.75_77delCTG (p.Cys25del) http://identifiers.org/clinvar/241955 ^@ NM_145891.2(RBFOX1):c.190C>T (p.Pro64Ser) http://identifiers.org/clinvar/241956 ^@ NM_145891.2(RBFOX1):c.259C>T (p.Pro87Ser) http://identifiers.org/clinvar/241957 ^@ NM_145891.2(RBFOX1):c.342C>T (p.Asp114=) http://identifiers.org/clinvar/241958 ^@ NM_145891.2(RBFOX1):c.807T>C (p.Tyr269=) http://identifiers.org/clinvar/241954 ^@ NM_145891.2(RBFOX1):c.1134+3G>A http://identifiers.org/clinvar/241098 ^@ NM_016373.3(WWOX):c.101A>G (p.Tyr34Cys) http://identifiers.org/clinvar/241101 ^@ NM_016373.3(WWOX):c.293C>T (p.Pro98Leu) http://identifiers.org/clinvar/241102 ^@ NM_016373.3(WWOX):c.351C>G (p.Leu117=) http://identifiers.org/clinvar/241103 ^@ NM_016373.3(WWOX):c.605+9T>A http://identifiers.org/clinvar/241104 ^@ NM_016373.3(WWOX):c.779C>G (p.Ser260Ter) http://identifiers.org/clinvar/241105 ^@ NM_016373.3(WWOX):c.790C>T (p.Arg264Ter) http://identifiers.org/clinvar/241106 ^@ NM_016373.3(WWOX):c.816G>T (p.Leu272Phe) http://identifiers.org/clinvar/241107 ^@ NM_016373.3(WWOX):c.898A>G (p.Asn300Asp) http://identifiers.org/clinvar/241108 ^@ NM_016373.3(WWOX):c.965A>G (p.His322Arg) http://identifiers.org/clinvar/241099 ^@ NM_016373.3(WWOX):c.1238C>A (p.Ser413Tyr) http://identifiers.org/clinvar/241100 ^@ NM_016373.3(WWOX):c.1239C>T (p.Ser413=) http://identifiers.org/clinvar/242160 ^@ NM_178452.5(DNAAF1):c.191A>G (p.Gln64Arg) http://identifiers.org/clinvar/242165 ^@ NM_178452.5(DNAAF1):c.619C>G (p.Leu207Val) http://identifiers.org/clinvar/242166 ^@ NM_178452.5(DNAAF1):c.768G>A (p.Pro256=) http://identifiers.org/clinvar/242156 ^@ NM_178452.5(DNAAF1):c.1031-5A>T http://identifiers.org/clinvar/242157 ^@ NM_178452.5(DNAAF1):c.1350G>A (p.Pro450=) http://identifiers.org/clinvar/242158 ^@ NM_178452.5(DNAAF1):c.1495C>A (p.Pro499Thr) http://identifiers.org/clinvar/242159 ^@ NM_178452.5(DNAAF1):c.1698+1G>A http://identifiers.org/clinvar/242161 ^@ NM_178452.5(DNAAF1):c.2082C>T (p.Ala694=) http://identifiers.org/clinvar/242162 ^@ NM_178452.5(DNAAF1):c.2109A>G (p.Gly703=) http://identifiers.org/clinvar/242163 ^@ NM_178452.5(DNAAF1):c.2128G>T (p.Ala710Ser) http://identifiers.org/clinvar/242164 ^@ NM_178452.5(DNAAF1):c.2134C>G (p.Pro712Ala) http://identifiers.org/clinvar/239500 ^@ NM_003119.3(SPG7):c.80C>G (p.Pro27Arg) http://identifiers.org/clinvar/239501 ^@ NM_003119.3(SPG7):c.976_987+3delGATTATCTGAAGGTG http://identifiers.org/clinvar/239499 ^@ NM_003119.3(SPG7):c.1242C>G (p.Gly414=) http://identifiers.org/clinvar/237053 ^@ NM_000135.2(FANCA):c.3935-9G>A http://identifiers.org/clinvar/237052 ^@ NM_000135.2(FANCA):c.3904T>C (p.Trp1302Arg) http://identifiers.org/clinvar/237051 ^@ NM_000135.2(FANCA):c.3761A>T (p.Glu1254Val) http://identifiers.org/clinvar/237050 ^@ NM_000135.2(FANCA):c.3476G>C (p.Cys1159Ser) http://identifiers.org/clinvar/237049 ^@ NM_000135.2(FANCA):c.3409-6C>T http://identifiers.org/clinvar/237048 ^@ NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) http://identifiers.org/clinvar/237047 ^@ NM_000135.2(FANCA):c.3357C>T (p.Phe1119=) http://identifiers.org/clinvar/237046 ^@ NM_000135.2(FANCA):c.2994T>C (p.Tyr998=) http://identifiers.org/clinvar/237045 ^@ NM_000135.2(FANCA):c.2981+4dupA http://identifiers.org/clinvar/237044 ^@ NM_000135.2(FANCA):c.2903C>T (p.Ser968Leu) http://identifiers.org/clinvar/237043 ^@ NM_000135.2(FANCA):c.2799A>G (p.Leu933=) http://identifiers.org/clinvar/237042 ^@ NM_000135.2(FANCA):c.2730_2731delCT (p.Trp911Aspfs) http://identifiers.org/clinvar/237041 ^@ NM_000135.2(FANCA):c.2602-9_2602-8delCT http://identifiers.org/clinvar/237040 ^@ NM_000135.2(FANCA):c.2593A>G (p.Ile865Val) http://identifiers.org/clinvar/237039 ^@ NM_000135.2(FANCA):c.2228G>A (p.Gly743Asp) http://identifiers.org/clinvar/237038 ^@ NM_000135.2(FANCA):c.2021C>T (p.Ser674Leu) http://identifiers.org/clinvar/237037 ^@ NM_000135.2(FANCA):c.1830A>G (p.Ala610=) http://identifiers.org/clinvar/237035 ^@ NM_000135.2(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) http://identifiers.org/clinvar/237034 ^@ NM_000135.2(FANCA):c.1340C>T (p.Ser447Leu) http://identifiers.org/clinvar/237032 ^@ NM_000135.2(FANCA):c.1074_1075delGT (p.Tyr359Profs) http://identifiers.org/clinvar/237061 ^@ NM_000135.2(FANCA):c.903G>T (p.Val301=) http://identifiers.org/clinvar/237060 ^@ NM_000135.2(FANCA):c.897C>T (p.Phe299=) http://identifiers.org/clinvar/237059 ^@ NM_000135.2(FANCA):c.887G>C (p.Arg296Thr) http://identifiers.org/clinvar/237058 ^@ NM_000135.2(FANCA):c.869C>A (p.Ser290Tyr) http://identifiers.org/clinvar/237057 ^@ NM_000135.2(FANCA):c.752C>T (p.Ser251Leu) http://identifiers.org/clinvar/237056 ^@ NM_000135.2(FANCA):c.709+5G>T http://identifiers.org/clinvar/237055 ^@ NM_000135.2(FANCA):c.694A>C (p.Arg232=) http://identifiers.org/clinvar/237036 ^@ NM_000135.2(FANCA):c.157A>C (p.Ser53Arg) http://identifiers.org/clinvar/237033 ^@ NM_000135.2(FANCA):c.115A>C (p.Arg39=) http://identifiers.org/clinvar/237054 ^@ NM_000135.2(FANCA):c.41A>G (p.Asp14Gly) http://identifiers.org/clinvar/239159 ^@ NM_002386.3(MC1R):c.67C>T (p.Gln23Ter) http://identifiers.org/clinvar/239162 ^@ NM_002386.3(MC1R):c.86dupA (p.Asn29Lysfs) http://identifiers.org/clinvar/239152 ^@ NM_002386.3(MC1R):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/239153 ^@ NM_002386.3(MC1R):c.425G>A (p.Arg142His) http://identifiers.org/clinvar/239154 ^@ NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) http://identifiers.org/clinvar/239155 ^@ NM_002386.3(MC1R):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/239156 ^@ NM_002386.3(MC1R):c.531G>A (p.Thr177=) http://identifiers.org/clinvar/239157 ^@ NM_002386.3(MC1R):c.583T>G (p.Phe195Val) http://identifiers.org/clinvar/239158 ^@ NM_002386.3(MC1R):c.645C>A (p.Cys215Ter) http://identifiers.org/clinvar/239160 ^@ NM_002386.3(MC1R):c.686G>A (p.Arg229His) http://identifiers.org/clinvar/239161 ^@ NM_002386.3(MC1R):c.699G>A (p.Gln233=) http://identifiers.org/clinvar/238192 ^@ NM_000833.4(GRIN2A):c.4356C>G (p.Arg1452=) http://identifiers.org/clinvar/238191 ^@ NM_000833.4(GRIN2A):c.4084A>G (p.Thr1362Ala) http://identifiers.org/clinvar/237629 ^@ NM_000304.3(PMP22):c.-34-?_*1140+?del http://identifiers.org/clinvar/237630 ^@ NM_000304.3(PMP22):c.-34-?_*1140+?dup http://identifiers.org/clinvar/237507 ^@ NM_000267.3(NF1):c.-383-?_*3522+?del http://identifiers.org/clinvar/237596 ^@ NM_000267.3(NF1):c.7395-?_*3522+?dup http://identifiers.org/clinvar/239402 ^@ NM_002878.3(RAD51D):c.739-?_*1161+?del http://identifiers.org/clinvar/241772 ^@ NM_058216.2(RAD51C):c.572-?_705+?del http://identifiers.org/clinvar/237937 ^@ NM_000546.5(TP53):c.-202-?_*1207+?del http://identifiers.org/clinvar/241278 ^@ NM_018127.6(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) http://identifiers.org/clinvar/241277 ^@ NM_018127.6(ELAC2):c.2404G>A (p.Gly802Ser) http://identifiers.org/clinvar/241276 ^@ NM_018127.6(ELAC2):c.2275A>G (p.Thr759Ala) http://identifiers.org/clinvar/241275 ^@ NM_018127.6(ELAC2):c.2142G>T (p.Arg714=) http://identifiers.org/clinvar/241274 ^@ NM_018127.6(ELAC2):c.1699-8dupT http://identifiers.org/clinvar/241273 ^@ NM_018127.6(ELAC2):c.1659G>A (p.Thr553=) http://identifiers.org/clinvar/241270 ^@ NM_018127.6(ELAC2):c.1479G>C (p.Pro493=) http://identifiers.org/clinvar/241269 ^@ NM_018127.6(ELAC2):c.1458T>C (p.Leu486=) http://identifiers.org/clinvar/241268 ^@ NM_018127.6(ELAC2):c.1424-3C>T http://identifiers.org/clinvar/241279 ^@ NM_018127.6(ELAC2):c.368-4T>A http://identifiers.org/clinvar/241272 ^@ NM_018127.6(ELAC2):c.155C>T (p.Ser52Phe) http://identifiers.org/clinvar/241271 ^@ NM_018127.6(ELAC2):c.155C>G (p.Ser52Cys) http://identifiers.org/clinvar/241921 ^@ NM_144997.5(FLCN):c.1669C>T (p.Leu557=) http://identifiers.org/clinvar/241920 ^@ NM_144997.5(FLCN):c.1539-2A>G http://identifiers.org/clinvar/241919 ^@ NM_144997.5(FLCN):c.1464G>A (p.Ala488=) http://identifiers.org/clinvar/241918 ^@ NM_144997.5(FLCN):c.1414C>G (p.Pro472Ala) http://identifiers.org/clinvar/241917 ^@ NM_144997.5(FLCN):c.1389C>T (p.Tyr463=) http://identifiers.org/clinvar/241916 ^@ NM_144997.5(FLCN):c.1287C>T (p.His429=) http://identifiers.org/clinvar/241915 ^@ NM_144997.5(FLCN):c.1219delA (p.Ser407Alafs) http://identifiers.org/clinvar/241914 ^@ NM_144997.5(FLCN):c.1201C>T (p.Arg401Cys) http://identifiers.org/clinvar/241933 ^@ NM_144997.5(FLCN):c.987delC (p.Ser330Profs) http://identifiers.org/clinvar/241931 ^@ NM_144997.5(FLCN):c.828delTinsAGA (p.Ala277Glufs) http://identifiers.org/clinvar/241928 ^@ NM_144997.5(FLCN):c.780-1G>C http://identifiers.org/clinvar/241930 ^@ NM_144997.5(FLCN):c.735A>C (p.Thr245=) http://identifiers.org/clinvar/241929 ^@ NM_144997.5(FLCN):c.614T>C (p.Leu205Pro) http://identifiers.org/clinvar/241927 ^@ NM_144997.5(FLCN):c.584delG (p.Gly195Glufs) http://identifiers.org/clinvar/241926 ^@ NM_144997.5(FLCN):c.552C>A (p.Asn184Lys) http://identifiers.org/clinvar/241925 ^@ NM_144997.5(FLCN):c.450T>C (p.Phe150=) http://identifiers.org/clinvar/241923 ^@ NM_144997.5(FLCN):c.357C>T (p.Ser119=) http://identifiers.org/clinvar/241922 ^@ NM_144997.5(FLCN):c.347dupA (p.Leu117Alafs) http://identifiers.org/clinvar/241913 ^@ NM_144997.5(FLCN):c.113delG (p.Ser38Ilefs) http://identifiers.org/clinvar/241932 ^@ NM_144997.5(FLCN):c.82C>T (p.Pro28Ser) http://identifiers.org/clinvar/241924 ^@ NM_144997.5(FLCN):c.42C>T (p.His14=) http://identifiers.org/clinvar/241064 ^@ NM_015681.4(B9D1):c.109G>A (p.Gly37Ser) http://identifiers.org/clinvar/242155 ^@ NM_178170.2(NEK8):c.419G>T (p.Arg140Leu) http://identifiers.org/clinvar/242154 ^@ NM_178170.2(NEK8):c.1732+8_1732+10delGGA http://identifiers.org/clinvar/237522 ^@ NM_000267.3(NF1):c.169G>A (p.Gly57Ser) http://identifiers.org/clinvar/237523 ^@ NM_000267.3(NF1):c.171C>A (p.Gly57=) http://identifiers.org/clinvar/237553 ^@ NM_000267.3(NF1):c.368C>T (p.Thr123Ile) http://identifiers.org/clinvar/237559 ^@ NM_000267.3(NF1):c.397delG (p.Glu133Asnfs) http://identifiers.org/clinvar/237578 ^@ NM_000267.3(NF1):c.587-3C>T http://identifiers.org/clinvar/237580 ^@ NM_000267.3(NF1):c.594A>T (p.Ala198=) http://identifiers.org/clinvar/237582 ^@ NM_000267.3(NF1):c.624G>A (p.Ala208=) http://identifiers.org/clinvar/237584 ^@ NM_000267.3(NF1):c.628T>C (p.Leu210=) http://identifiers.org/clinvar/237587 ^@ NM_000267.3(NF1):c.649G>T (p.Glu217Ter) http://identifiers.org/clinvar/237599 ^@ NM_000267.3(NF1):c.784C>T (p.Arg262Cys) http://identifiers.org/clinvar/237609 ^@ NM_000267.3(NF1):c.848A>G (p.Asp283Gly) http://identifiers.org/clinvar/237610 ^@ NM_000267.3(NF1):c.889-2A>G http://identifiers.org/clinvar/237508 ^@ NM_000267.3(NF1):c.1052T>A (p.Val351Asp) http://identifiers.org/clinvar/237509 ^@ NM_000267.3(NF1):c.1108C>T (p.Pro370Ser) http://identifiers.org/clinvar/237510 ^@ NM_000267.3(NF1):c.1130T>C (p.Ile377Thr) http://identifiers.org/clinvar/237511 ^@ NM_000267.3(NF1):c.1176A>G (p.Gln392=) http://identifiers.org/clinvar/237512 ^@ NM_000267.3(NF1):c.1261-3T>A http://identifiers.org/clinvar/237513 ^@ NM_000267.3(NF1):c.1261T>G (p.Ser421Ala) http://identifiers.org/clinvar/237515 ^@ NM_000267.3(NF1):c.1369C>T (p.His457Tyr) http://identifiers.org/clinvar/237514 ^@ NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) http://identifiers.org/clinvar/237516 ^@ NM_000267.3(NF1):c.1458A>G (p.Thr486=) http://identifiers.org/clinvar/237517 ^@ NM_000267.3(NF1):c.1480T>A (p.Leu494Met) http://identifiers.org/clinvar/237518 ^@ NM_000267.3(NF1):c.1527+1159C>T http://identifiers.org/clinvar/237520 ^@ NM_000267.3(NF1):c.1593A>C (p.Gln531His) http://identifiers.org/clinvar/237521 ^@ NM_000267.3(NF1):c.1595T>G (p.Leu532Arg) http://identifiers.org/clinvar/237519 ^@ NM_000267.3(NF1):c.1722-6C>G http://identifiers.org/clinvar/237524 ^@ NM_000267.3(NF1):c.1866T>C (p.Cys622=) http://identifiers.org/clinvar/237525 ^@ NM_000267.3(NF1):c.1939C>T (p.His647Tyr) http://identifiers.org/clinvar/237526 ^@ NM_000267.3(NF1):c.1960C>T (p.Pro654Ser) http://identifiers.org/clinvar/237527 ^@ NM_000267.3(NF1):c.1985A>G (p.Lys662Arg) http://identifiers.org/clinvar/237528 ^@ NM_000267.3(NF1):c.2001+7T>C http://identifiers.org/clinvar/237529 ^@ NM_000267.3(NF1):c.2002-4_2010del http://identifiers.org/clinvar/237530 ^@ NM_000267.3(NF1):c.2018G>A (p.Cys673Tyr) http://identifiers.org/clinvar/237531 ^@ NM_000267.3(NF1):c.2028C>G (p.Thr676=) http://identifiers.org/clinvar/237532 ^@ NM_000267.3(NF1):c.2142T>C (p.Cys714=) http://identifiers.org/clinvar/237533 ^@ NM_000267.3(NF1):c.2257G>A (p.Ala753Thr) http://identifiers.org/clinvar/237534 ^@ NM_000267.3(NF1):c.2326-8C>T http://identifiers.org/clinvar/237535 ^@ NM_000267.3(NF1):c.2352G>A (p.Trp784Ter) http://identifiers.org/clinvar/237536 ^@ NM_000267.3(NF1):c.2409+2delT http://identifiers.org/clinvar/237537 ^@ NM_000267.3(NF1):c.2437G>A (p.Val813Ile) http://identifiers.org/clinvar/237538 ^@ NM_000267.3(NF1):c.2604dupT (p.Pro869Serfs) http://identifiers.org/clinvar/237539 ^@ NM_000267.3(NF1):c.2606C>T (p.Pro869Leu) http://identifiers.org/clinvar/237540 ^@ NM_000267.3(NF1):c.2709G>T (p.Val903=) http://identifiers.org/clinvar/237541 ^@ NM_000267.3(NF1):c.2819C>G (p.Thr940Ser) http://identifiers.org/clinvar/237542 ^@ NM_000267.3(NF1):c.2840C>G (p.Ser947Cys) http://identifiers.org/clinvar/237543 ^@ NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg) http://identifiers.org/clinvar/237544 ^@ NM_000267.3(NF1):c.3063A>C (p.Val1021=) http://identifiers.org/clinvar/237545 ^@ NM_000267.3(NF1):c.3064delA (p.Met1022Terfs) http://identifiers.org/clinvar/237546 ^@ NM_000267.3(NF1):c.3197+9dupA http://identifiers.org/clinvar/237547 ^@ NM_000267.3(NF1):c.3315-8T>C http://identifiers.org/clinvar/237548 ^@ NM_000267.3(NF1):c.3352A>G (p.Ser1118Gly) http://identifiers.org/clinvar/237549 ^@ NM_000267.3(NF1):c.3407G>C (p.Arg1136Pro) http://identifiers.org/clinvar/237550 ^@ NM_000267.3(NF1):c.3502G>C (p.Gly1168Arg) http://identifiers.org/clinvar/237551 ^@ NM_000267.3(NF1):c.3565C>T (p.Gln1189Ter) http://identifiers.org/clinvar/237552 ^@ NM_000267.3(NF1):c.3656G>T (p.Gly1219Val) http://identifiers.org/clinvar/237554 ^@ NM_000267.3(NF1):c.3709-10T>C http://identifiers.org/clinvar/237555 ^@ NM_000267.3(NF1):c.3726T>A (p.Val1242=) http://identifiers.org/clinvar/237556 ^@ NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) http://identifiers.org/clinvar/237557 ^@ NM_000267.3(NF1):c.3881C>T (p.Ala1294Val) http://identifiers.org/clinvar/237558 ^@ NM_000267.3(NF1):c.3897delA (p.Lys1299Asnfs) http://identifiers.org/clinvar/237560 ^@ NM_000267.3(NF1):c.4000G>A (p.Glu1334Lys) http://identifiers.org/clinvar/237561 ^@ NM_000267.3(NF1):c.4255A>G (p.Lys1419Glu) http://identifiers.org/clinvar/237562 ^@ NM_000267.3(NF1):c.4269+8A>G http://identifiers.org/clinvar/237563 ^@ NM_000267.3(NF1):c.4306A>G (p.Lys1436Glu) http://identifiers.org/clinvar/237564 ^@ NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) http://identifiers.org/clinvar/237565 ^@ NM_000267.3(NF1):c.4333G>T (p.Asp1445Tyr) http://identifiers.org/clinvar/237566 ^@ NM_000267.3(NF1):c.4363C>T (p.Arg1455Cys) http://identifiers.org/clinvar/237567 ^@ NM_000267.3(NF1):c.4382T>C (p.Ile1461Thr) http://identifiers.org/clinvar/237568 ^@ NM_000267.3(NF1):c.4420dupA (p.Ser1474Lysfs) http://identifiers.org/clinvar/237569 ^@ NM_000267.3(NF1):c.4473G>C (p.Trp1491Cys) http://identifiers.org/clinvar/237570 ^@ NM_000267.3(NF1):c.4741G>A (p.Gly1581Arg) http://identifiers.org/clinvar/237571 ^@ NM_000267.3(NF1):c.4771A>C (p.Arg1591=) http://identifiers.org/clinvar/237572 ^@ NM_000267.3(NF1):c.4773-10T>G http://identifiers.org/clinvar/237573 ^@ NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) http://identifiers.org/clinvar/237574 ^@ NM_000267.3(NF1):c.5334C>T (p.Phe1778=) http://identifiers.org/clinvar/237575 ^@ NM_000267.3(NF1):c.5414A>G (p.His1805Arg) http://identifiers.org/clinvar/237576 ^@ NM_000267.3(NF1):c.5498T>G (p.Leu1833Arg) http://identifiers.org/clinvar/237577 ^@ NM_000267.3(NF1):c.5608C>T (p.Gln1870Ter) http://identifiers.org/clinvar/237579 ^@ NM_000267.3(NF1):c.5939G>T (p.Gly1980Val) http://identifiers.org/clinvar/237581 ^@ NM_000267.3(NF1):c.5969T>C (p.Leu1990Pro) http://identifiers.org/clinvar/237583 ^@ NM_000267.3(NF1):c.6271G>A (p.Ala2091Thr) http://identifiers.org/clinvar/237585 ^@ NM_000267.3(NF1):c.6302C>T (p.Thr2101Ile) http://identifiers.org/clinvar/237586 ^@ NM_000267.3(NF1):c.6472C>T (p.Arg2158Cys) http://identifiers.org/clinvar/237588 ^@ NM_000267.3(NF1):c.6681T>A (p.Ala2227=) http://identifiers.org/clinvar/237589 ^@ NM_000267.3(NF1):c.6723G>A (p.Gly2241=) http://identifiers.org/clinvar/237590 ^@ NM_000267.3(NF1):c.6816T>C (p.Ala2272=) http://identifiers.org/clinvar/237591 ^@ NM_000267.3(NF1):c.7079A>G (p.Asn2360Ser) http://identifiers.org/clinvar/237592 ^@ NM_000267.3(NF1):c.7206_7207delCA (p.His2402Glnfs) http://identifiers.org/clinvar/237593 ^@ NM_000267.3(NF1):c.7276G>C (p.Glu2426Gln) http://identifiers.org/clinvar/237594 ^@ NM_000267.3(NF1):c.7278A>C (p.Glu2426Asp) http://identifiers.org/clinvar/237595 ^@ NM_000267.3(NF1):c.7386T>C (p.Pro2462=) http://identifiers.org/clinvar/237597 ^@ NM_000267.3(NF1):c.7433G>A (p.Gly2478Asp) http://identifiers.org/clinvar/237598 ^@ NM_000267.3(NF1):c.7518delG (p.Gln2507Asnfs) http://identifiers.org/clinvar/237600 ^@ NM_000267.3(NF1):c.7868dupC (p.Glu2624Argfs) http://identifiers.org/clinvar/237601 ^@ NM_000267.3(NF1):c.7900C>T (p.Pro2634Ser) http://identifiers.org/clinvar/237602 ^@ NM_000267.3(NF1):c.7908-7C>A http://identifiers.org/clinvar/237603 ^@ NM_000267.3(NF1):c.8010T>G (p.His2670Gln) http://identifiers.org/clinvar/237604 ^@ NM_000267.3(NF1):c.8181A>T (p.Glu2727Asp) http://identifiers.org/clinvar/237605 ^@ NM_000267.3(NF1):c.8225C>A (p.Pro2742His) http://identifiers.org/clinvar/237606 ^@ NM_000267.3(NF1):c.8261A>G (p.Asn2754Ser) http://identifiers.org/clinvar/237607 ^@ NM_000267.3(NF1):c.8344C>A (p.Pro2782Thr) http://identifiers.org/clinvar/237608 ^@ NM_000267.3(NF1):c.8448G>A (p.Lys2816=) http://identifiers.org/clinvar/239405 ^@ NM_002878.3(RAD51D):c.899G>A (p.Arg300Gln) http://identifiers.org/clinvar/239404 ^@ NM_002878.3(RAD51D):c.854G>T (p.Gly285Val) http://identifiers.org/clinvar/239403 ^@ NM_002878.3(RAD51D):c.765G>A (p.Arg255=) http://identifiers.org/clinvar/239400 ^@ NM_002878.3(RAD51D):c.600G>T (p.Val200=) http://identifiers.org/clinvar/239399 ^@ NM_002878.3(RAD51D):c.490C>G (p.Leu164Val) http://identifiers.org/clinvar/239398 ^@ NM_002878.3(RAD51D):c.481-8C>T http://identifiers.org/clinvar/239396 ^@ NM_002878.3(RAD51D):c.346-8A>G http://identifiers.org/clinvar/239397 ^@ NM_002878.3(RAD51D):c.346-9C>A http://identifiers.org/clinvar/239395 ^@ NM_002878.3(RAD51D):c.345+5A>G http://identifiers.org/clinvar/239394 ^@ NM_002878.3(RAD51D):c.270_271dupTA (p.Lys91Ilefs) http://identifiers.org/clinvar/239393 ^@ NM_002878.3(RAD51D):c.263+2T>C http://identifiers.org/clinvar/239392 ^@ NM_002878.3(RAD51D):c.195C>G (p.Pro65=) http://identifiers.org/clinvar/239401 ^@ NM_002878.3(RAD51D):c.72G>T (p.Arg24Ser) http://identifiers.org/clinvar/239548 ^@ NM_003673.3(TCAP):c.53G>A (p.Arg18Gln) http://identifiers.org/clinvar/239546 ^@ NM_003673.3(TCAP):c.192G>A (p.Ser64=) http://identifiers.org/clinvar/239547 ^@ NM_003673.3(TCAP):c.472C>T (p.Arg158Cys) http://identifiers.org/clinvar/239489 ^@ NM_003079.4(SMARCE1):c.1231G>T (p.Glu411Ter) http://identifiers.org/clinvar/239488 ^@ NM_003079.4(SMARCE1):c.1122C>T (p.Val374=) http://identifiers.org/clinvar/239487 ^@ NM_003079.4(SMARCE1):c.1079G>A (p.Gly360Asp) http://identifiers.org/clinvar/239497 ^@ NM_003079.4(SMARCE1):c.963G>A (p.Glu321=) http://identifiers.org/clinvar/239496 ^@ NM_003079.4(SMARCE1):c.597C>T (p.Asn199=) http://identifiers.org/clinvar/239495 ^@ NM_003079.4(SMARCE1):c.525delT (p.Ala176Leufs) http://identifiers.org/clinvar/239494 ^@ NM_003079.4(SMARCE1):c.484T>A (p.Ser162Thr) http://identifiers.org/clinvar/239493 ^@ NM_003079.4(SMARCE1):c.351C>T (p.Asn117=) http://identifiers.org/clinvar/239492 ^@ NM_003079.4(SMARCE1):c.331G>C (p.Glu111Gln) http://identifiers.org/clinvar/239491 ^@ NM_003079.4(SMARCE1):c.300T>A (p.Ile100=) http://identifiers.org/clinvar/239490 ^@ NM_003079.4(SMARCE1):c.135G>A (p.Pro45=) http://identifiers.org/clinvar/239105 ^@ NM_002230.2(JUP):c.1774-6C>T http://identifiers.org/clinvar/239104 ^@ NM_002230.2(JUP):c.1667T>C (p.Met556Thr) http://identifiers.org/clinvar/239109 ^@ NM_002230.2(JUP):c.782A>G (p.Lys261Arg) http://identifiers.org/clinvar/239108 ^@ NM_002230.2(JUP):c.764T>G (p.Leu255Arg) http://identifiers.org/clinvar/239107 ^@ NM_002230.2(JUP):c.607C>T (p.Arg203Cys) http://identifiers.org/clinvar/239106 ^@ NM_002230.2(JUP):c.510G>A (p.Ser170=) http://identifiers.org/clinvar/240767 ^@ NM_007294.3(BRCA1):c.*291C>T http://identifiers.org/clinvar/240768 ^@ NM_007294.3(BRCA1):c.*264C>T http://identifiers.org/clinvar/240824 ^@ NM_007294.3(BRCA1):c.5523T>C (p.Ser1841=) http://identifiers.org/clinvar/240822 ^@ NM_007294.3(BRCA1):c.5425G>A (p.Val1809Ile) http://identifiers.org/clinvar/240821 ^@ NM_007294.3(BRCA1):c.5383C>T (p.Leu1795Phe) http://identifiers.org/clinvar/240820 ^@ NM_007294.3(BRCA1):c.5332+3A>G http://identifiers.org/clinvar/240819 ^@ NM_007294.3(BRCA1):c.5242G>C (p.Gly1748Arg) http://identifiers.org/clinvar/240818 ^@ NM_007294.3(BRCA1):c.5161C>G (p.Gln1721Glu) http://identifiers.org/clinvar/240817 ^@ NM_007294.3(BRCA1):c.5142T>G (p.Val1714=) http://identifiers.org/clinvar/240816 ^@ NM_007294.3(BRCA1):c.5114T>G (p.Leu1705Arg) http://identifiers.org/clinvar/240815 ^@ NM_007294.3(BRCA1):c.5109T>C (p.Tyr1703=) http://identifiers.org/clinvar/240814 ^@ NM_007294.3(BRCA1):c.5088G>A (p.Val1696=) http://identifiers.org/clinvar/240813 ^@ NM_007294.3(BRCA1):c.5086G>T (p.Val1696Leu) http://identifiers.org/clinvar/240812 ^@ NM_007294.3(BRCA1):c.5075-9A>G http://identifiers.org/clinvar/240811 ^@ NM_007294.3(BRCA1):c.5024C>T (p.Thr1675Ile) http://identifiers.org/clinvar/240810 ^@ NM_007294.3(BRCA1):c.4987-2A>C http://identifiers.org/clinvar/240809 ^@ NM_007294.3(BRCA1):c.4959G>A (p.Val1653=) http://identifiers.org/clinvar/240808 ^@ NM_007294.3(BRCA1):c.4860T>C (p.Thr1620=) http://identifiers.org/clinvar/240807 ^@ NM_007294.3(BRCA1):c.4737T>C (p.Pro1579=) http://identifiers.org/clinvar/240806 ^@ NM_007294.3(BRCA1):c.4725T>G (p.Pro1575=) http://identifiers.org/clinvar/240805 ^@ NM_007294.3(BRCA1):c.4665G>A (p.Arg1555=) http://identifiers.org/clinvar/240804 ^@ NM_007294.3(BRCA1):c.4503C>T (p.Cys1501=) http://identifiers.org/clinvar/240803 ^@ NM_007294.3(BRCA1):c.4370C>A (p.Ser1457Ter) http://identifiers.org/clinvar/240802 ^@ NM_007294.3(BRCA1):c.4357+19A>C http://identifiers.org/clinvar/240801 ^@ NM_007294.3(BRCA1):c.4241T>C (p.Leu1414Pro) http://identifiers.org/clinvar/240800 ^@ NM_007294.3(BRCA1):c.4205A>C (p.His1402Pro) http://identifiers.org/clinvar/240799 ^@ NM_007294.3(BRCA1):c.4186-2A>G http://identifiers.org/clinvar/240798 ^@ NM_007294.3(BRCA1):c.3893C>G (p.Ser1298Ter) http://identifiers.org/clinvar/240797 ^@ NM_007294.3(BRCA1):c.3737C>A (p.Thr1246Asn) http://identifiers.org/clinvar/240795 ^@ NM_007294.3(BRCA1):c.3685T>C (p.Leu1229=) http://identifiers.org/clinvar/240794 ^@ NM_007294.3(BRCA1):c.3572G>A (p.Ser1191Asn) http://identifiers.org/clinvar/240793 ^@ NM_007294.3(BRCA1):c.3518G>A (p.Ser1173Asn) http://identifiers.org/clinvar/240792 ^@ NM_007294.3(BRCA1):c.3403C>G (p.Gln1135Glu) http://identifiers.org/clinvar/240789 ^@ NM_007294.3(BRCA1):c.3217G>A (p.Gly1073Ser) http://identifiers.org/clinvar/240787 ^@ NM_007294.3(BRCA1):c.3126C>G (p.Ser1042Arg) http://identifiers.org/clinvar/240786 ^@ NM_007294.3(BRCA1):c.3113A>C (p.Glu1038Ala) http://identifiers.org/clinvar/240784 ^@ NM_007294.3(BRCA1):c.2959A>G (p.Lys987Glu) http://identifiers.org/clinvar/240783 ^@ NM_007294.3(BRCA1):c.2912_2913delAT (p.His971Argfs) http://identifiers.org/clinvar/240782 ^@ NM_007294.3(BRCA1):c.2258G>A (p.Ser753Asn) http://identifiers.org/clinvar/240781 ^@ NM_007294.3(BRCA1):c.2245G>A (p.Asp749Asn) http://identifiers.org/clinvar/240780 ^@ NM_007294.3(BRCA1):c.2226_2227delTA (p.Asn742Lysfs) http://identifiers.org/clinvar/240779 ^@ NM_007294.3(BRCA1):c.2001A>G (p.Gln667=) http://identifiers.org/clinvar/240777 ^@ NM_007294.3(BRCA1):c.1923dupT (p.Asp642Terfs) http://identifiers.org/clinvar/240776 ^@ NM_007294.3(BRCA1):c.1799delT (p.Ile600Thrfs) http://identifiers.org/clinvar/240775 ^@ NM_007294.3(BRCA1):c.1704T>C (p.Pro568=) http://identifiers.org/clinvar/240774 ^@ NM_007294.3(BRCA1):c.1601_1602delAG (p.Gln534Argfs) http://identifiers.org/clinvar/240773 ^@ NM_007294.3(BRCA1):c.1355T>C (p.Val452Ala) http://identifiers.org/clinvar/240771 ^@ NM_007294.3(BRCA1):c.1155G>T (p.Trp385Cys) http://identifiers.org/clinvar/240770 ^@ NM_007294.3(BRCA1):c.1148delA (p.Asn383Metfs) http://identifiers.org/clinvar/240769 ^@ NM_007294.3(BRCA1):c.1099A>G (p.Thr367Ala) http://identifiers.org/clinvar/240832 ^@ NM_007294.3(BRCA1):c.923G>A (p.Ser308Asn) http://identifiers.org/clinvar/240831 ^@ NM_007294.3(BRCA1):c.902A>G (p.Lys301Arg) http://identifiers.org/clinvar/240830 ^@ NM_007294.3(BRCA1):c.738G>A (p.Leu246=) http://identifiers.org/clinvar/240829 ^@ NM_007294.3(BRCA1):c.671-6T>G http://identifiers.org/clinvar/240828 ^@ NM_007294.3(BRCA1):c.649delA (p.Ser217Valfs) http://identifiers.org/clinvar/240827 ^@ NM_007294.3(BRCA1):c.593+16C>T http://identifiers.org/clinvar/240826 ^@ NM_007294.3(BRCA1):c.577A>G (p.Lys193Glu) http://identifiers.org/clinvar/240825 ^@ NM_007294.3(BRCA1):c.551C>T (p.Ser184Phe) http://identifiers.org/clinvar/240823 ^@ NM_007294.3(BRCA1):c.548-10A>T http://identifiers.org/clinvar/240796 ^@ NM_007294.3(BRCA1):c.370A>C (p.Ile124Leu) http://identifiers.org/clinvar/240791 ^@ NM_007294.3(BRCA1):c.330G>A (p.Lys110=) http://identifiers.org/clinvar/240790 ^@ NM_007294.3(BRCA1):c.328A>G (p.Lys110Glu) http://identifiers.org/clinvar/240788 ^@ NM_007294.3(BRCA1):c.319T>A (p.Phe107Ile) http://identifiers.org/clinvar/240785 ^@ NM_007294.3(BRCA1):c.302-8T>G http://identifiers.org/clinvar/240778 ^@ NM_007294.3(BRCA1):c.198T>C (p.Asn66=) http://identifiers.org/clinvar/240772 ^@ NM_007294.3(BRCA1):c.135-15_135-12delCTTT http://identifiers.org/clinvar/242266 ^@ NM_213607.2(CCDC103):c.82C>T (p.Arg28Trp) http://identifiers.org/clinvar/242264 ^@ NM_213607.2(CCDC103):c.359A>G (p.Tyr120Cys) http://identifiers.org/clinvar/242265 ^@ NM_213607.2(CCDC103):c.705G>C (p.Leu235=) http://identifiers.org/clinvar/238624 ^@ NM_001193466.1(KANSL1):c.2230G>C (p.Asp744His) http://identifiers.org/clinvar/238625 ^@ NM_001193466.1(KANSL1):c.963G>A (p.Leu321=) http://identifiers.org/clinvar/241187 ^@ NM_017777.3(MKS1):c.1498A>G (p.Met500Val) http://identifiers.org/clinvar/241188 ^@ NM_017777.3(MKS1):c.544G>A (p.Val182Ile) http://identifiers.org/clinvar/241776 ^@ NM_058216.2(RAD51C):c.70C>T (p.Arg24Trp) http://identifiers.org/clinvar/241766 ^@ NM_058216.2(RAD51C):c.145+2_145+7delinsCTAAG http://identifiers.org/clinvar/241767 ^@ NM_058216.2(RAD51C):c.233C>T (p.Thr78Ile) http://identifiers.org/clinvar/241768 ^@ NM_058216.2(RAD51C):c.258A>T (p.Thr86=) http://identifiers.org/clinvar/241769 ^@ NM_058216.2(RAD51C):c.274G>A (p.Glu92Lys) http://identifiers.org/clinvar/241770 ^@ NM_058216.2(RAD51C):c.318A>C (p.Ala106=) http://identifiers.org/clinvar/241771 ^@ NM_058216.2(RAD51C):c.403T>C (p.Cys135Arg) http://identifiers.org/clinvar/241773 ^@ NM_058216.2(RAD51C):c.622A>G (p.Ile208Val) http://identifiers.org/clinvar/241774 ^@ NM_058216.2(RAD51C):c.687C>G (p.Phe229Leu) http://identifiers.org/clinvar/241775 ^@ NM_058216.2(RAD51C):c.705+3A>G http://identifiers.org/clinvar/241777 ^@ NM_058216.2(RAD51C):c.719T>C (p.Ile240Thr) http://identifiers.org/clinvar/241778 ^@ NM_058216.2(RAD51C):c.805A>T (p.Met269Leu) http://identifiers.org/clinvar/241779 ^@ NM_058216.2(RAD51C):c.837+1G>T http://identifiers.org/clinvar/241780 ^@ NM_058216.2(RAD51C):c.896C>T (p.Pro299Leu) http://identifiers.org/clinvar/241782 ^@ NM_058216.2(RAD51C):c.965+21A>G http://identifiers.org/clinvar/241783 ^@ NM_058216.2(RAD51C):c.966-4G>C http://identifiers.org/clinvar/241659 ^@ NM_032043.2(BRIP1):c.3700T>C (p.Phe1234Leu) http://identifiers.org/clinvar/241658 ^@ NM_032043.2(BRIP1):c.3676A>C (p.Thr1226Pro) http://identifiers.org/clinvar/241656 ^@ NM_032043.2(BRIP1):c.3512T>C (p.Phe1171Ser) http://identifiers.org/clinvar/241655 ^@ NM_032043.2(BRIP1):c.3290A>G (p.Glu1097Gly) http://identifiers.org/clinvar/241654 ^@ NM_032043.2(BRIP1):c.3262C>T (p.His1088Tyr) http://identifiers.org/clinvar/241653 ^@ NM_032043.2(BRIP1):c.3243C>T (p.Ala1081=) http://identifiers.org/clinvar/241652 ^@ NM_032043.2(BRIP1):c.3199T>A (p.Cys1067Ser) http://identifiers.org/clinvar/241651 ^@ NM_032043.2(BRIP1):c.3189G>A (p.Ser1063=) http://identifiers.org/clinvar/241650 ^@ NM_032043.2(BRIP1):c.3122T>C (p.Met1041Thr) http://identifiers.org/clinvar/241649 ^@ NM_032043.2(BRIP1):c.3064G>C (p.Glu1022Gln) http://identifiers.org/clinvar/241648 ^@ NM_032043.2(BRIP1):c.2992_2993delAA (p.Lys998Glufs) http://identifiers.org/clinvar/241647 ^@ NM_032043.2(BRIP1):c.2990_2993dupCAAA (p.Lys998Asnfs) http://identifiers.org/clinvar/241646 ^@ NM_032043.2(BRIP1):c.2807A>T (p.Glu936Val) http://identifiers.org/clinvar/241645 ^@ NM_032043.2(BRIP1):c.2754C>T (p.Thr918=) http://identifiers.org/clinvar/241644 ^@ NM_032043.2(BRIP1):c.2739T>C (p.Ser913=) http://identifiers.org/clinvar/241642 ^@ NM_032043.2(BRIP1):c.2684_2687delCCAT (p.Ser895Terfs) http://identifiers.org/clinvar/241641 ^@ NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter) http://identifiers.org/clinvar/241640 ^@ NM_032043.2(BRIP1):c.2238C>A (p.Ile746=) http://identifiers.org/clinvar/241639 ^@ NM_032043.2(BRIP1):c.2158_2160delGTG (p.Val720del) http://identifiers.org/clinvar/241638 ^@ NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter) http://identifiers.org/clinvar/241637 ^@ NM_032043.2(BRIP1):c.2069G>A (p.Gly690Glu) http://identifiers.org/clinvar/241636 ^@ NM_032043.2(BRIP1):c.1963C>T (p.Pro655Ser) http://identifiers.org/clinvar/241635 ^@ NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) http://identifiers.org/clinvar/241634 ^@ NM_032043.2(BRIP1):c.1936-2A>G http://identifiers.org/clinvar/241633 ^@ NM_032043.2(BRIP1):c.1935+7T>C http://identifiers.org/clinvar/241632 ^@ NM_032043.2(BRIP1):c.1806T>C (p.Asp602=) http://identifiers.org/clinvar/241631 ^@ NM_032043.2(BRIP1):c.1798T>C (p.Phe600Leu) http://identifiers.org/clinvar/241630 ^@ NM_032043.2(BRIP1):c.1721C>T (p.Pro574Leu) http://identifiers.org/clinvar/241629 ^@ NM_032043.2(BRIP1):c.1707G>A (p.Gly569=) http://identifiers.org/clinvar/241628 ^@ NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567Ilefs) http://identifiers.org/clinvar/241627 ^@ NM_032043.2(BRIP1):c.1592T>C (p.Phe531Ser) http://identifiers.org/clinvar/241626 ^@ NM_032043.2(BRIP1):c.1368T>C (p.Leu456=) http://identifiers.org/clinvar/241625 ^@ NM_032043.2(BRIP1):c.1309C>G (p.Pro437Ala) http://identifiers.org/clinvar/241623 ^@ NM_032043.2(BRIP1):c.1170C>T (p.Val390=) http://identifiers.org/clinvar/241622 ^@ NM_032043.2(BRIP1):c.1123G>A (p.Ala375Thr) http://identifiers.org/clinvar/241621 ^@ NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340Profs) http://identifiers.org/clinvar/241665 ^@ NM_032043.2(BRIP1):c.924A>G (p.Lys308=) http://identifiers.org/clinvar/241664 ^@ NM_032043.2(BRIP1):c.890_891insT (p.Lys297Asnfs) http://identifiers.org/clinvar/241663 ^@ NM_032043.2(BRIP1):c.887A>G (p.Glu296Gly) http://identifiers.org/clinvar/241662 ^@ NM_032043.2(BRIP1):c.799G>A (p.Ala267Thr) http://identifiers.org/clinvar/241661 ^@ NM_032043.2(BRIP1):c.520C>T (p.His174Tyr) http://identifiers.org/clinvar/241660 ^@ NM_032043.2(BRIP1):c.409A>G (p.Lys137Glu) http://identifiers.org/clinvar/241657 ^@ NM_032043.2(BRIP1):c.357T>A (p.Asn119Lys) http://identifiers.org/clinvar/241643 ^@ NM_032043.2(BRIP1):c.267A>G (p.Ala89=) http://identifiers.org/clinvar/241624 ^@ NM_032043.2(BRIP1):c.120A>G (p.Gln40=) http://identifiers.org/clinvar/240017 ^@ NM_004655.3(AXIN2):c.2500C>T (p.Arg834Trp) http://identifiers.org/clinvar/240016 ^@ NM_004655.3(AXIN2):c.2489T>A (p.Met830Lys) http://identifiers.org/clinvar/240015 ^@ NM_004655.3(AXIN2):c.2439C>T (p.Ala813=) http://identifiers.org/clinvar/240014 ^@ NM_004655.3(AXIN2):c.2406-8C>G http://identifiers.org/clinvar/240013 ^@ NM_004655.3(AXIN2):c.2394G>A (p.Lys798=) http://identifiers.org/clinvar/240012 ^@ NM_004655.3(AXIN2):c.2273C>T (p.Ala758Val) http://identifiers.org/clinvar/240011 ^@ NM_004655.3(AXIN2):c.2238-7T>C http://identifiers.org/clinvar/240010 ^@ NM_004655.3(AXIN2):c.2213C>T (p.Ser738Phe) http://identifiers.org/clinvar/240009 ^@ NM_004655.3(AXIN2):c.2196G>A (p.Thr732=) http://identifiers.org/clinvar/240008 ^@ NM_004655.3(AXIN2):c.2184C>T (p.Ala728=) http://identifiers.org/clinvar/240007 ^@ NM_004655.3(AXIN2):c.2140C>T (p.Arg714Trp) http://identifiers.org/clinvar/240006 ^@ NM_004655.3(AXIN2):c.2012G>C (p.Arg671Pro) http://identifiers.org/clinvar/240005 ^@ NM_004655.3(AXIN2):c.2004G>A (p.Gly668=) http://identifiers.org/clinvar/240004 ^@ NM_004655.3(AXIN2):c.2000G>A (p.Ser667Asn) http://identifiers.org/clinvar/240002 ^@ NM_004655.3(AXIN2):c.1975C>T (p.Arg659Trp) http://identifiers.org/clinvar/240001 ^@ NM_004655.3(AXIN2):c.1962C>A (p.Gly654=) http://identifiers.org/clinvar/240000 ^@ NM_004655.3(AXIN2):c.1829G>A (p.Arg610Gln) http://identifiers.org/clinvar/239999 ^@ NM_004655.3(AXIN2):c.1827C>T (p.Pro609=) http://identifiers.org/clinvar/239998 ^@ NM_004655.3(AXIN2):c.1744A>C (p.Asn582His) http://identifiers.org/clinvar/239996 ^@ NM_004655.3(AXIN2):c.1708T>G (p.Phe570Val) http://identifiers.org/clinvar/239995 ^@ NM_004655.3(AXIN2):c.1633G>T (p.Gly545Trp) http://identifiers.org/clinvar/239994 ^@ NM_004655.3(AXIN2):c.1623C>T (p.Cys541=) http://identifiers.org/clinvar/239993 ^@ NM_004655.3(AXIN2):c.1612C>T (p.Arg538Trp) http://identifiers.org/clinvar/239992 ^@ NM_004655.3(AXIN2):c.1599G>A (p.Ala533=) http://identifiers.org/clinvar/239991 ^@ NM_004655.3(AXIN2):c.1583A>G (p.Lys528Arg) http://identifiers.org/clinvar/239990 ^@ NM_004655.3(AXIN2):c.1531A>G (p.Thr511Ala) http://identifiers.org/clinvar/239989 ^@ NM_004655.3(AXIN2):c.1478C>G (p.Ser493Trp) http://identifiers.org/clinvar/239988 ^@ NM_004655.3(AXIN2):c.1416_1421dupCCACCA (p.His474_Ser475insHisHis) http://identifiers.org/clinvar/239986 ^@ NM_004655.3(AXIN2):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/239985 ^@ NM_004655.3(AXIN2):c.1389C>T (p.Arg463=) http://identifiers.org/clinvar/239984 ^@ NM_004655.3(AXIN2):c.1383C>T (p.Ser461=) http://identifiers.org/clinvar/239983 ^@ NM_004655.3(AXIN2):c.1338C>A (p.Val446=) http://identifiers.org/clinvar/239981 ^@ NM_004655.3(AXIN2):c.1274T>C (p.Leu425Pro) http://identifiers.org/clinvar/239980 ^@ NM_004655.3(AXIN2):c.1267C>T (p.Leu423Phe) http://identifiers.org/clinvar/239979 ^@ NM_004655.3(AXIN2):c.1264C>T (p.Pro422Ser) http://identifiers.org/clinvar/239978 ^@ NM_004655.3(AXIN2):c.1145A>G (p.Lys382Arg) http://identifiers.org/clinvar/239976 ^@ NM_004655.3(AXIN2):c.1092C>T (p.Pro364=) http://identifiers.org/clinvar/239975 ^@ NM_004655.3(AXIN2):c.1089C>A (p.Thr363=) http://identifiers.org/clinvar/239974 ^@ NM_004655.3(AXIN2):c.1079A>G (p.Lys360Arg) http://identifiers.org/clinvar/239973 ^@ NM_004655.3(AXIN2):c.1031A>G (p.Asn344Ser) http://identifiers.org/clinvar/240040 ^@ NM_004655.3(AXIN2):c.917C>T (p.Ala306Val) http://identifiers.org/clinvar/240039 ^@ NM_004655.3(AXIN2):c.911G>T (p.Ser304Ile) http://identifiers.org/clinvar/240038 ^@ NM_004655.3(AXIN2):c.879A>G (p.Pro293=) http://identifiers.org/clinvar/240037 ^@ NM_004655.3(AXIN2):c.876A>G (p.Ala292=) http://identifiers.org/clinvar/240036 ^@ NM_004655.3(AXIN2):c.832G>A (p.Asp278Asn) http://identifiers.org/clinvar/240035 ^@ NM_004655.3(AXIN2):c.815+8T>A http://identifiers.org/clinvar/240034 ^@ NM_004655.3(AXIN2):c.815+7C>T http://identifiers.org/clinvar/240033 ^@ NM_004655.3(AXIN2):c.815+4dupA http://identifiers.org/clinvar/240032 ^@ NM_004655.3(AXIN2):c.799G>C (p.Val267Leu) http://identifiers.org/clinvar/240031 ^@ NM_004655.3(AXIN2):c.785G>A (p.Arg262Lys) http://identifiers.org/clinvar/240030 ^@ NM_004655.3(AXIN2):c.780T>C (p.Ser260=) http://identifiers.org/clinvar/240029 ^@ NM_004655.3(AXIN2):c.731C>T (p.Ser244Leu) http://identifiers.org/clinvar/240028 ^@ NM_004655.3(AXIN2):c.721T>G (p.Cys241Gly) http://identifiers.org/clinvar/240027 ^@ NM_004655.3(AXIN2):c.667G>A (p.Gly223Ser) http://identifiers.org/clinvar/240026 ^@ NM_004655.3(AXIN2):c.598G>A (p.Val200Met) http://identifiers.org/clinvar/240025 ^@ NM_004655.3(AXIN2):c.549G>A (p.Glu183=) http://identifiers.org/clinvar/240023 ^@ NM_004655.3(AXIN2):c.527C>T (p.Thr176Ile) http://identifiers.org/clinvar/240022 ^@ NM_004655.3(AXIN2):c.435C>A (p.Val145=) http://identifiers.org/clinvar/240021 ^@ NM_004655.3(AXIN2):c.414C>T (p.Tyr138=) http://identifiers.org/clinvar/240020 ^@ NM_004655.3(AXIN2):c.344A>G (p.Asn115Ser) http://identifiers.org/clinvar/240019 ^@ NM_004655.3(AXIN2):c.295C>T (p.Leu99=) http://identifiers.org/clinvar/240018 ^@ NM_004655.3(AXIN2):c.251C>G (p.Ser84Cys) http://identifiers.org/clinvar/239997 ^@ NM_004655.3(AXIN2):c.170G>A (p.Arg57Gln) http://identifiers.org/clinvar/239982 ^@ NM_004655.3(AXIN2):c.129C>T (p.Gly43=) http://identifiers.org/clinvar/239977 ^@ NM_004655.3(AXIN2):c.112C>G (p.Pro38Ala) http://identifiers.org/clinvar/239972 ^@ NM_004655.3(AXIN2):c.101C>A (p.Pro34Gln) http://identifiers.org/clinvar/240024 ^@ NM_004655.3(AXIN2):c.53G>C (p.Arg18Pro) http://identifiers.org/clinvar/240003 ^@ NM_004655.3(AXIN2):c.19G>A (p.Val7Met) http://identifiers.org/clinvar/239987 ^@ NM_004655.3(AXIN2):c.13A>G (p.Met5Val) http://identifiers.org/clinvar/239971 ^@ NM_004655.3(AXIN2):c.-12_8del20 http://identifiers.org/clinvar/239386 ^@ NM_002734.4(PRKAR1A):c.64G>T (p.Val22Phe) http://identifiers.org/clinvar/239382 ^@ NM_002734.4(PRKAR1A):c.221G>A (p.Arg74His) http://identifiers.org/clinvar/239383 ^@ NM_002734.4(PRKAR1A):c.483A>G (p.Gly161=) http://identifiers.org/clinvar/239384 ^@ NM_002734.4(PRKAR1A):c.489T>G (p.Thr163=) http://identifiers.org/clinvar/239385 ^@ NM_002734.4(PRKAR1A):c.546G>A (p.Thr182=) http://identifiers.org/clinvar/239387 ^@ NM_002734.4(PRKAR1A):c.675C>A (p.Gly225=) http://identifiers.org/clinvar/239388 ^@ NM_002734.4(PRKAR1A):c.974-10C>T http://identifiers.org/clinvar/239381 ^@ NM_002734.4(PRKAR1A):c.1029C>T (p.Gly343=) http://identifiers.org/clinvar/241446 ^@ NM_023036.4(DNAI2):c.124G>A (p.Val42Met) http://identifiers.org/clinvar/241453 ^@ NM_023036.4(DNAI2):c.759G>A (p.Ala253=) http://identifiers.org/clinvar/241454 ^@ NM_023036.4(DNAI2):c.854C>T (p.Thr285Met) http://identifiers.org/clinvar/241445 ^@ NM_023036.4(DNAI2):c.1165C>G (p.Arg389Gly) http://identifiers.org/clinvar/241447 ^@ NM_023036.4(DNAI2):c.1318G>C (p.Glu440Gln) http://identifiers.org/clinvar/241448 ^@ NM_023036.4(DNAI2):c.1420G>A (p.Gly474Arg) http://identifiers.org/clinvar/241449 ^@ NM_023036.4(DNAI2):c.1431C>G (p.Thr477=) http://identifiers.org/clinvar/241450 ^@ NM_023036.4(DNAI2):c.1574C>T (p.Ala525Val) http://identifiers.org/clinvar/241451 ^@ NM_023036.4(DNAI2):c.1600G>A (p.Asp534Asn) http://identifiers.org/clinvar/241452 ^@ NM_023036.4(DNAI2):c.1644C>T (p.Ala548=) http://identifiers.org/clinvar/237940 ^@ NM_000546.5(TP53):c.1121delG (p.Gly374Valfs) http://identifiers.org/clinvar/237939 ^@ NM_000546.5(TP53):c.1100+8A>G http://identifiers.org/clinvar/237938 ^@ NM_000546.5(TP53):c.1009C>G (p.Arg337Gly) http://identifiers.org/clinvar/237956 ^@ NM_000546.5(TP53):c.845G>A (p.Arg282Gln) http://identifiers.org/clinvar/237955 ^@ NM_000546.5(TP53):c.753C>T (p.Ile251=) http://identifiers.org/clinvar/237954 ^@ NM_000546.5(TP53):c.743G>C (p.Arg248Pro) http://identifiers.org/clinvar/237953 ^@ NM_000546.5(TP53):c.673-1G>T http://identifiers.org/clinvar/237951 ^@ NM_000546.5(TP53):c.662delA (p.Glu221Glyfs) http://identifiers.org/clinvar/237952 ^@ NM_000546.5(TP53):c.652G>A (p.Val218Met) http://identifiers.org/clinvar/237950 ^@ NM_000546.5(TP53):c.461G>A (p.Gly154Asp) http://identifiers.org/clinvar/237948 ^@ NM_000546.5(TP53):c.375G>T (p.Thr125=) http://identifiers.org/clinvar/237947 ^@ NM_000546.5(TP53):c.303A>T (p.Lys101Asn) http://identifiers.org/clinvar/237946 ^@ NM_000546.5(TP53):c.286_288delTCT (p.Ser96del) http://identifiers.org/clinvar/237945 ^@ NM_000546.5(TP53):c.279G>T (p.Leu93=) http://identifiers.org/clinvar/237944 ^@ NM_000546.5(TP53):c.215_216delCCinsGT (p.Pro72Arg) http://identifiers.org/clinvar/237943 ^@ NM_000546.5(TP53):c.212C>G (p.Pro71Arg) http://identifiers.org/clinvar/237942 ^@ NM_000546.5(TP53):c.155A>G (p.Gln52Arg) http://identifiers.org/clinvar/237957 ^@ NM_000546.5(TP53):c.97-4A>T http://identifiers.org/clinvar/237949 ^@ NM_000546.5(TP53):c.38C>T (p.Pro13Leu) http://identifiers.org/clinvar/237941 ^@ NM_000546.5(TP53):c.11C>T (p.Pro4Leu) http://identifiers.org/clinvar/238285 ^@ NM_001082575.2(RBFOX3):c.415-4A>G http://identifiers.org/clinvar/238286 ^@ NM_001082575.2(RBFOX3):c.415-9T>C http://identifiers.org/clinvar/238284 ^@ NM_001082575.2(RBFOX3):c.321C>T (p.Pro107=) http://identifiers.org/clinvar/238287 ^@ NM_001082575.2(RBFOX3):c.68C>T (p.Ala23Val) http://identifiers.org/clinvar/241242 ^@ NM_017950.3(CCDC40):c.490G>A (p.Gly164Arg) http://identifiers.org/clinvar/241243 ^@ NM_017950.3(CCDC40):c.631G>A (p.Asp211Asn) http://identifiers.org/clinvar/241244 ^@ NM_017950.3(CCDC40):c.682C>T (p.Pro228Ser) http://identifiers.org/clinvar/241229 ^@ NM_017950.3(CCDC40):c.1076G>A (p.Arg359His) http://identifiers.org/clinvar/241230 ^@ NM_017950.3(CCDC40):c.1123A>C (p.Lys375Gln) http://identifiers.org/clinvar/241231 ^@ NM_017950.3(CCDC40):c.1138G>A (p.Ala380Thr) http://identifiers.org/clinvar/241232 ^@ NM_017950.3(CCDC40):c.1280C>T (p.Thr427Met) http://identifiers.org/clinvar/241233 ^@ NM_017950.3(CCDC40):c.1303G>A (p.Glu435Lys) http://identifiers.org/clinvar/241234 ^@ NM_017950.3(CCDC40):c.1441-8G>T http://identifiers.org/clinvar/241235 ^@ NM_017950.3(CCDC40):c.1620delC (p.Ile541Serfs) http://identifiers.org/clinvar/241236 ^@ NM_017950.3(CCDC40):c.2336G>A (p.Arg779His) http://identifiers.org/clinvar/241237 ^@ NM_017950.3(CCDC40):c.2784C>T (p.Ile928=) http://identifiers.org/clinvar/241238 ^@ NM_017950.3(CCDC40):c.2785G>A (p.Gly929Ser) http://identifiers.org/clinvar/241239 ^@ NM_017950.3(CCDC40):c.2823C>G (p.His941Gln) http://identifiers.org/clinvar/241240 ^@ NM_017950.3(CCDC40):c.2852dupT (p.Lys952Glufs) http://identifiers.org/clinvar/241241 ^@ NM_017950.3(CCDC40):c.2958C>T (p.Leu986=) http://identifiers.org/clinvar/241582 ^@ NM_025099.5(CTC1):c.2933+3G>A http://identifiers.org/clinvar/241581 ^@ NM_025099.5(CTC1):c.2478A>G (p.Thr826=) http://identifiers.org/clinvar/241580 ^@ NM_025099.5(CTC1):c.2162G>C (p.Gly721Ala) http://identifiers.org/clinvar/241578 ^@ NM_025099.5(CTC1):c.1307G>A (p.Arg436His) http://identifiers.org/clinvar/241577 ^@ NM_025099.5(CTC1):c.1241G>C (p.Gly414Ala) http://identifiers.org/clinvar/241579 ^@ NM_025099.5(CTC1):c.194A>G (p.Tyr65Cys) http://identifiers.org/clinvar/241109 ^@ NM_016492.4(RANGRF):c.81C>T (p.Asp27=) http://identifiers.org/clinvar/242022 ^@ NM_173728.3(ARHGEF15):c.67C>T (p.Arg23Cys) http://identifiers.org/clinvar/242023 ^@ NM_173728.3(ARHGEF15):c.960G>A (p.Gln320=) http://identifiers.org/clinvar/242018 ^@ NM_173728.3(ARHGEF15):c.1855C>A (p.Arg619Ser) http://identifiers.org/clinvar/242019 ^@ NM_173728.3(ARHGEF15):c.2323C>T (p.Arg775Trp) http://identifiers.org/clinvar/242020 ^@ NM_173728.3(ARHGEF15):c.2442A>G (p.Glu814=) http://identifiers.org/clinvar/242021 ^@ NM_173728.3(ARHGEF15):c.2519C>A (p.Pro840Gln) http://identifiers.org/clinvar/238202 ^@ NM_000987.3(RPL26):c.259C>T (p.Arg87Trp) http://identifiers.org/clinvar/240139 ^@ NM_005359.5(SMAD4):c.-127-?_*6575+?dup http://identifiers.org/clinvar/238559 ^@ NM_001142339.2(GNAL):c.66C>T (p.Arg22=) http://identifiers.org/clinvar/240130 ^@ NM_005257.5(GATA6):c.222G>A (p.Pro74=) http://identifiers.org/clinvar/240131 ^@ NM_005257.5(GATA6):c.993_998delCCACCA (p.His332_His333del) http://identifiers.org/clinvar/240127 ^@ NM_005257.5(GATA6):c.1374C>T (p.Asn458=) http://identifiers.org/clinvar/240128 ^@ NM_005257.5(GATA6):c.1602A>G (p.Thr534=) http://identifiers.org/clinvar/240129 ^@ NM_005257.5(GATA6):c.1605A>G (p.Gln535=) http://identifiers.org/clinvar/239578 ^@ NM_003803.3(MYOM1):c.4903G>A (p.Gly1635Ser) http://identifiers.org/clinvar/239577 ^@ NM_003803.3(MYOM1):c.4806G>A (p.Pro1602=) http://identifiers.org/clinvar/239576 ^@ NM_003803.3(MYOM1):c.4568C>T (p.Pro1523Leu) http://identifiers.org/clinvar/239575 ^@ NM_003803.3(MYOM1):c.4069+4A>C http://identifiers.org/clinvar/241472 ^@ NM_024422.4(DSC2):c.1935A>G (p.Ser645=) http://identifiers.org/clinvar/241471 ^@ NM_024422.4(DSC2):c.1034T>C (p.Ile345Thr) http://identifiers.org/clinvar/241474 ^@ NM_024422.4(DSC2):c.360A>G (p.Leu120=) http://identifiers.org/clinvar/241473 ^@ NM_024422.4(DSC2):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/239574 ^@ NM_003803.3(MYOM1):c.3300G>A (p.Leu1100=) http://identifiers.org/clinvar/239573 ^@ NM_003803.3(MYOM1):c.3195C>G (p.Ser1065=) http://identifiers.org/clinvar/239572 ^@ NM_003803.3(MYOM1):c.2848A>G (p.Met950Val) http://identifiers.org/clinvar/239571 ^@ NM_003803.3(MYOM1):c.2625T>C (p.Leu875=) http://identifiers.org/clinvar/239570 ^@ NM_003803.3(MYOM1):c.2181G>A (p.Thr727=) http://identifiers.org/clinvar/239568 ^@ NM_003803.3(MYOM1):c.1442C>G (p.Thr481Arg) http://identifiers.org/clinvar/239566 ^@ NM_003803.3(MYOM1):c.1362A>G (p.Lys454=) http://identifiers.org/clinvar/239565 ^@ NM_003803.3(MYOM1):c.1340-4C>A http://identifiers.org/clinvar/239582 ^@ NM_003803.3(MYOM1):c.920G>C (p.Arg307Pro) http://identifiers.org/clinvar/239581 ^@ NM_003803.3(MYOM1):c.684C>T (p.Ser228=) http://identifiers.org/clinvar/239580 ^@ NM_003803.3(MYOM1):c.617A>G (p.Lys206Arg) http://identifiers.org/clinvar/239579 ^@ NM_003803.3(MYOM1):c.609A>G (p.Thr203=) http://identifiers.org/clinvar/239569 ^@ NM_003803.3(MYOM1):c.175G>A (p.Glu59Lys) http://identifiers.org/clinvar/239567 ^@ NM_003803.3(MYOM1):c.136T>C (p.Tyr46His) http://identifiers.org/clinvar/239564 ^@ NM_003803.3(MYOM1):c.110C>T (p.Ala37Val) http://identifiers.org/clinvar/241726 ^@ NM_032978.6(DTNA):c.1002-6T>C http://identifiers.org/clinvar/241727 ^@ NM_032978.6(DTNA):c.1314G>A (p.Ala438=) http://identifiers.org/clinvar/240142 ^@ NM_005359.5(SMAD4):c.118A>G (p.Ile40Val) http://identifiers.org/clinvar/240147 ^@ NM_005359.5(SMAD4):c.177A>G (p.Thr59=) http://identifiers.org/clinvar/240148 ^@ NM_005359.5(SMAD4):c.183A>C (p.Ile61=) http://identifiers.org/clinvar/240149 ^@ NM_005359.5(SMAD4):c.342T>C (p.Tyr114=) http://identifiers.org/clinvar/240150 ^@ NM_005359.5(SMAD4):c.554C>T (p.Pro185Leu) http://identifiers.org/clinvar/240151 ^@ NM_005359.5(SMAD4):c.639C>T (p.Asn213=) http://identifiers.org/clinvar/240152 ^@ NM_005359.5(SMAD4):c.668G>T (p.Ser223Ile) http://identifiers.org/clinvar/240153 ^@ NM_005359.5(SMAD4):c.755G>T (p.Gly252Val) http://identifiers.org/clinvar/240154 ^@ NM_005359.5(SMAD4):c.825A>G (p.Pro275=) http://identifiers.org/clinvar/240155 ^@ NM_005359.5(SMAD4):c.884C>T (p.Pro295Leu) http://identifiers.org/clinvar/240156 ^@ NM_005359.5(SMAD4):c.906G>A (p.Trp302Ter) http://identifiers.org/clinvar/240140 ^@ NM_005359.5(SMAD4):c.1005A>G (p.Val335=) http://identifiers.org/clinvar/240141 ^@ NM_005359.5(SMAD4):c.1006G>C (p.Gly336Arg) http://identifiers.org/clinvar/240143 ^@ NM_005359.5(SMAD4):c.1206dupT (p.Ser403Terfs) http://identifiers.org/clinvar/240144 ^@ NM_005359.5(SMAD4):c.1215C>T (p.His405=) http://identifiers.org/clinvar/240145 ^@ NM_005359.5(SMAD4):c.1447+9G>A http://identifiers.org/clinvar/240146 ^@ NM_005359.5(SMAD4):c.1644A>G (p.Pro548=) http://identifiers.org/clinvar/241028 ^@ NM_015277.5(NEDD4L):c.639C>T (p.Asn213=) http://identifiers.org/clinvar/241027 ^@ NM_015277.5(NEDD4L):c.2692+6C>T http://identifiers.org/clinvar/237784 ^@ NM_000455.4(STK11):c.-1115-?_*16+?del http://identifiers.org/clinvar/238206 ^@ NM_001005360.2(DNM2):c.210T>C (p.Ile70=) http://identifiers.org/clinvar/238207 ^@ NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) http://identifiers.org/clinvar/238415 ^@ NM_001128849.1(SMARCA4):c.27C>T (p.Gly9=) http://identifiers.org/clinvar/238505 ^@ NM_001128849.1(SMARCA4):c.54G>A (p.Pro18=) http://identifiers.org/clinvar/238513 ^@ NM_001128849.1(SMARCA4):c.69C>T (p.Ser23=) http://identifiers.org/clinvar/238369 ^@ NM_001128849.1(SMARCA4):c.126G>A (p.Met42Ile) http://identifiers.org/clinvar/238372 ^@ NM_001128849.1(SMARCA4):c.134C>A (p.Pro45His) http://identifiers.org/clinvar/238390 ^@ NM_001128849.1(SMARCA4):c.207G>T (p.Met69Ile) http://identifiers.org/clinvar/238393 ^@ NM_001128849.1(SMARCA4):c.218A>G (p.His73Arg) http://identifiers.org/clinvar/238395 ^@ NM_001128849.1(SMARCA4):c.223-7C>G http://identifiers.org/clinvar/238401 ^@ NM_001128849.1(SMARCA4):c.232T>C (p.Ser78Pro) http://identifiers.org/clinvar/238402 ^@ NM_001128849.1(SMARCA4):c.235A>G (p.Met79Val) http://identifiers.org/clinvar/238405 ^@ NM_001128849.1(SMARCA4):c.246G>A (p.Lys82=) http://identifiers.org/clinvar/238407 ^@ NM_001128849.1(SMARCA4):c.255G>A (p.Ser85=) http://identifiers.org/clinvar/238447 ^@ NM_001128849.1(SMARCA4):c.403C>G (p.Pro135Ala) http://identifiers.org/clinvar/238450 ^@ NM_001128849.1(SMARCA4):c.416C>T (p.Pro139Leu) http://identifiers.org/clinvar/238476 ^@ NM_001128849.1(SMARCA4):c.459G>A (p.Pro153=) http://identifiers.org/clinvar/238506 ^@ NM_001128849.1(SMARCA4):c.626C>T (p.Pro209Leu) http://identifiers.org/clinvar/238507 ^@ NM_001128849.1(SMARCA4):c.648G>C (p.Gln216His) http://identifiers.org/clinvar/238508 ^@ NM_001128849.1(SMARCA4):c.665C>T (p.Pro222Leu) http://identifiers.org/clinvar/238509 ^@ NM_001128849.1(SMARCA4):c.672G>A (p.Ser224=) http://identifiers.org/clinvar/238510 ^@ NM_001128849.1(SMARCA4):c.678C>T (p.Ser226=) http://identifiers.org/clinvar/238511 ^@ NM_001128849.1(SMARCA4):c.690C>T (p.Pro230=) http://identifiers.org/clinvar/238512 ^@ NM_001128849.1(SMARCA4):c.698G>A (p.Gly233Asp) http://identifiers.org/clinvar/238514 ^@ NM_001128849.1(SMARCA4):c.715G>A (p.Gly239Ser) http://identifiers.org/clinvar/238515 ^@ NM_001128849.1(SMARCA4):c.717C>T (p.Gly239=) http://identifiers.org/clinvar/238516 ^@ NM_001128849.1(SMARCA4):c.719C>T (p.Pro240Leu) http://identifiers.org/clinvar/238517 ^@ NM_001128849.1(SMARCA4):c.722_733delGTCCCGGCCCGG (p.Gly241_Pro244del) http://identifiers.org/clinvar/238518 ^@ NM_001128849.1(SMARCA4):c.732G>A (p.Pro244=) http://identifiers.org/clinvar/238519 ^@ NM_001128849.1(SMARCA4):c.747C>T (p.Tyr249=) http://identifiers.org/clinvar/238520 ^@ NM_001128849.1(SMARCA4):c.762T>C (p.Gly254=) http://identifiers.org/clinvar/238521 ^@ NM_001128849.1(SMARCA4):c.797C>T (p.Ser266Leu) http://identifiers.org/clinvar/238522 ^@ NM_001128849.1(SMARCA4):c.802G>A (p.Val268Met) http://identifiers.org/clinvar/238523 ^@ NM_001128849.1(SMARCA4):c.810C>T (p.Pro270=) http://identifiers.org/clinvar/238524 ^@ NM_001128849.1(SMARCA4):c.837G>A (p.Gly279=) http://identifiers.org/clinvar/238525 ^@ NM_001128849.1(SMARCA4):c.866T>C (p.Met289Thr) http://identifiers.org/clinvar/238526 ^@ NM_001128849.1(SMARCA4):c.887C>T (p.Thr296Met) http://identifiers.org/clinvar/238527 ^@ NM_001128849.1(SMARCA4):c.892A>T (p.Thr298Ser) http://identifiers.org/clinvar/238528 ^@ NM_001128849.1(SMARCA4):c.896C>T (p.Pro299Leu) http://identifiers.org/clinvar/238529 ^@ NM_001128849.1(SMARCA4):c.914C>G (p.Pro305Arg) http://identifiers.org/clinvar/238530 ^@ NM_001128849.1(SMARCA4):c.929G>A (p.Arg310His) http://identifiers.org/clinvar/238531 ^@ NM_001128849.1(SMARCA4):c.930C>T (p.Arg310=) http://identifiers.org/clinvar/238532 ^@ NM_001128849.1(SMARCA4):c.947C>T (p.Pro316Leu) http://identifiers.org/clinvar/238533 ^@ NM_001128849.1(SMARCA4):c.972C>T (p.Pro324=) http://identifiers.org/clinvar/238534 ^@ NM_001128849.1(SMARCA4):c.979C>A (p.Pro327Thr) http://identifiers.org/clinvar/238535 ^@ NM_001128849.1(SMARCA4):c.983C>T (p.Pro328Leu) http://identifiers.org/clinvar/238536 ^@ NM_001128849.1(SMARCA4):c.986A>G (p.Gln329Arg) http://identifiers.org/clinvar/238537 ^@ NM_001128849.1(SMARCA4):c.999C>T (p.Pro333=) http://identifiers.org/clinvar/238356 ^@ NM_001128849.1(SMARCA4):c.1018G>A (p.Ala340Thr) http://identifiers.org/clinvar/238357 ^@ NM_001128849.1(SMARCA4):c.1024A>G (p.Met342Val) http://identifiers.org/clinvar/238358 ^@ NM_001128849.1(SMARCA4):c.1074G>A (p.Pro358=) http://identifiers.org/clinvar/238359 ^@ NM_001128849.1(SMARCA4):c.1076G>A (p.Arg359Gln) http://identifiers.org/clinvar/238360 ^@ NM_001128849.1(SMARCA4):c.1083C>T (p.Leu361=) http://identifiers.org/clinvar/238361 ^@ NM_001128849.1(SMARCA4):c.1099C>T (p.Leu367=) http://identifiers.org/clinvar/238362 ^@ NM_001128849.1(SMARCA4):c.1109G>A (p.Arg370His) http://identifiers.org/clinvar/238363 ^@ NM_001128849.1(SMARCA4):c.1116C>T (p.Tyr372=) http://identifiers.org/clinvar/238364 ^@ NM_001128849.1(SMARCA4):c.1119-6T>C http://identifiers.org/clinvar/238365 ^@ NM_001128849.1(SMARCA4):c.1132A>G (p.Ile378Val) http://identifiers.org/clinvar/238366 ^@ NM_001128849.1(SMARCA4):c.1134C>T (p.Ile378=) http://identifiers.org/clinvar/238367 ^@ NM_001128849.1(SMARCA4):c.1212C>G (p.Leu404=) http://identifiers.org/clinvar/238368 ^@ NM_001128849.1(SMARCA4):c.1257G>A (p.Glu419=) http://identifiers.org/clinvar/238370 ^@ NM_001128849.1(SMARCA4):c.1303A>G (p.Asn435Asp) http://identifiers.org/clinvar/238371 ^@ NM_001128849.1(SMARCA4):c.1344C>T (p.Arg448=) http://identifiers.org/clinvar/238373 ^@ NM_001128849.1(SMARCA4):c.1410G>A (p.Gln470=) http://identifiers.org/clinvar/238375 ^@ NM_001128849.1(SMARCA4):c.1419+9C>T http://identifiers.org/clinvar/238374 ^@ NM_001128849.1(SMARCA4):c.1419+10G>A http://identifiers.org/clinvar/238377 ^@ NM_001128849.1(SMARCA4):c.1420-7C>T http://identifiers.org/clinvar/238376 ^@ NM_001128849.1(SMARCA4):c.1420-6C>G http://identifiers.org/clinvar/238378 ^@ NM_001128849.1(SMARCA4):c.1476C>T (p.Ser492=) http://identifiers.org/clinvar/238379 ^@ NM_001128849.1(SMARCA4):c.1557C>T (p.Asn519=) http://identifiers.org/clinvar/238380 ^@ NM_001128849.1(SMARCA4):c.1594-8T>C http://identifiers.org/clinvar/238381 ^@ NM_001128849.1(SMARCA4):c.1705C>T (p.Arg569Trp) http://identifiers.org/clinvar/238382 ^@ NM_001128849.1(SMARCA4):c.1740A>G (p.Lys580=) http://identifiers.org/clinvar/238383 ^@ NM_001128849.1(SMARCA4):c.1800G>A (p.Gly600=) http://identifiers.org/clinvar/238384 ^@ NM_001128849.1(SMARCA4):c.1821C>T (p.Asp607=) http://identifiers.org/clinvar/238385 ^@ NM_001128849.1(SMARCA4):c.1982G>A (p.Gly661Asp) http://identifiers.org/clinvar/238386 ^@ NM_001128849.1(SMARCA4):c.2022G>A (p.Pro674=) http://identifiers.org/clinvar/238387 ^@ NM_001128849.1(SMARCA4):c.2048C>G (p.Pro683Arg) http://identifiers.org/clinvar/238388 ^@ NM_001128849.1(SMARCA4):c.2064G>A (p.Lys688=) http://identifiers.org/clinvar/238389 ^@ NM_001128849.1(SMARCA4):c.2076T>C (p.Asp692=) http://identifiers.org/clinvar/238391 ^@ NM_001128849.1(SMARCA4):c.2109G>A (p.Ala703=) http://identifiers.org/clinvar/238392 ^@ NM_001128849.1(SMARCA4):c.2109G>T (p.Ala703=) http://identifiers.org/clinvar/238394 ^@ NM_001128849.1(SMARCA4):c.2199C>T (p.Ala733=) http://identifiers.org/clinvar/238396 ^@ NM_001128849.1(SMARCA4):c.2274+12_2274+13delGG http://identifiers.org/clinvar/238397 ^@ NM_001128849.1(SMARCA4):c.2275-10G>A http://identifiers.org/clinvar/238398 ^@ NM_001128849.1(SMARCA4):c.2275-3C>T http://identifiers.org/clinvar/238399 ^@ NM_001128849.1(SMARCA4):c.2276T>C (p.Ile759Thr) http://identifiers.org/clinvar/238400 ^@ NM_001128849.1(SMARCA4):c.2304G>A (p.Leu768=) http://identifiers.org/clinvar/238403 ^@ NM_001128849.1(SMARCA4):c.2385C>T (p.Tyr795=) http://identifiers.org/clinvar/238404 ^@ NM_001128849.1(SMARCA4):c.2409T>C (p.Asn803=) http://identifiers.org/clinvar/238406 ^@ NM_001128849.1(SMARCA4):c.2533G>T (p.Val845Phe) http://identifiers.org/clinvar/238408 ^@ NM_001128849.1(SMARCA4):c.2562C>T (p.Asn854=) http://identifiers.org/clinvar/238409 ^@ NM_001128849.1(SMARCA4):c.2617-4G>A http://identifiers.org/clinvar/238410 ^@ NM_001128849.1(SMARCA4):c.2637T>C (p.Ile879=) http://identifiers.org/clinvar/238411 ^@ NM_001128849.1(SMARCA4):c.2643C>T (p.Asp881=) http://identifiers.org/clinvar/238412 ^@ NM_001128849.1(SMARCA4):c.2652C>T (p.His884=) http://identifiers.org/clinvar/238413 ^@ NM_001128849.1(SMARCA4):c.2697G>A (p.Thr899=) http://identifiers.org/clinvar/238414 ^@ NM_001128849.1(SMARCA4):c.2739G>A (p.Pro913=) http://identifiers.org/clinvar/238416 ^@ NM_001128849.1(SMARCA4):c.2817C>T (p.Phe939=) http://identifiers.org/clinvar/238417 ^@ NM_001128849.1(SMARCA4):c.2832C>T (p.Asn944=) http://identifiers.org/clinvar/238418 ^@ NM_001128849.1(SMARCA4):c.2850C>T (p.Thr950=) http://identifiers.org/clinvar/238419 ^@ NM_001128849.1(SMARCA4):c.2883C>T (p.Thr961=) http://identifiers.org/clinvar/238420 ^@ NM_001128849.1(SMARCA4):c.3009G>T (p.Leu1003=) http://identifiers.org/clinvar/238421 ^@ NM_001128849.1(SMARCA4):c.3048G>A (p.Val1016=) http://identifiers.org/clinvar/238422 ^@ NM_001128849.1(SMARCA4):c.3066C>T (p.Ser1022=) http://identifiers.org/clinvar/238423 ^@ NM_001128849.1(SMARCA4):c.3105G>C (p.Leu1035=) http://identifiers.org/clinvar/238424 ^@ NM_001128849.1(SMARCA4):c.3168+8C>T http://identifiers.org/clinvar/238425 ^@ NM_001128849.1(SMARCA4):c.3216-8C>T http://identifiers.org/clinvar/238426 ^@ NM_001128849.1(SMARCA4):c.3303G>C (p.Leu1101=) http://identifiers.org/clinvar/238427 ^@ NM_001128849.1(SMARCA4):c.3435C>T (p.Pro1145=) http://identifiers.org/clinvar/238428 ^@ NM_001128849.1(SMARCA4):c.3436G>A (p.Gly1146Ser) http://identifiers.org/clinvar/238429 ^@ NM_001128849.1(SMARCA4):c.3483C>T (p.Leu1161=) http://identifiers.org/clinvar/238430 ^@ NM_001128849.1(SMARCA4):c.3552G>A (p.Leu1184=) http://identifiers.org/clinvar/238431 ^@ NM_001128849.1(SMARCA4):c.3558G>A (p.Ala1186=) http://identifiers.org/clinvar/238432 ^@ NM_001128849.1(SMARCA4):c.3663G>A (p.Lys1221=) http://identifiers.org/clinvar/238433 ^@ NM_001128849.1(SMARCA4):c.3693C>T (p.Ala1231=) http://identifiers.org/clinvar/238434 ^@ NM_001128849.1(SMARCA4):c.3738C>T (p.Phe1246=) http://identifiers.org/clinvar/238435 ^@ NM_001128849.1(SMARCA4):c.3765G>A (p.Glu1255=) http://identifiers.org/clinvar/238436 ^@ NM_001128849.1(SMARCA4):c.3769G>C (p.Asp1257His) http://identifiers.org/clinvar/238437 ^@ NM_001128849.1(SMARCA4):c.3798C>T (p.Ser1266=) http://identifiers.org/clinvar/238438 ^@ NM_001128849.1(SMARCA4):c.3873+6delA http://identifiers.org/clinvar/238439 ^@ NM_001128849.1(SMARCA4):c.3894C>T (p.Asp1298=) http://identifiers.org/clinvar/238440 ^@ NM_001128849.1(SMARCA4):c.3918C>T (p.Ile1306=) http://identifiers.org/clinvar/238441 ^@ NM_001128849.1(SMARCA4):c.3927C>T (p.His1309=) http://identifiers.org/clinvar/238442 ^@ NM_001128849.1(SMARCA4):c.3945G>C (p.Leu1315=) http://identifiers.org/clinvar/238443 ^@ NM_001128849.1(SMARCA4):c.3966C>T (p.Asp1322=) http://identifiers.org/clinvar/238444 ^@ NM_001128849.1(SMARCA4):c.3981G>T (p.Glu1327Asp) http://identifiers.org/clinvar/238445 ^@ NM_001128849.1(SMARCA4):c.3985C>T (p.Arg1329Cys) http://identifiers.org/clinvar/238446 ^@ NM_001128849.1(SMARCA4):c.4035G>A (p.Ser1345=) http://identifiers.org/clinvar/238448 ^@ NM_001128849.1(SMARCA4):c.4050C>T (p.Asp1350=) http://identifiers.org/clinvar/238449 ^@ NM_001128849.1(SMARCA4):c.4140C>T (p.Ser1380=) http://identifiers.org/clinvar/238451 ^@ NM_001128849.1(SMARCA4):c.4170+8C>G http://identifiers.org/clinvar/238452 ^@ NM_001128849.1(SMARCA4):c.4171-9T>A http://identifiers.org/clinvar/238453 ^@ NM_001128849.1(SMARCA4):c.4187A>G (p.Asp1396Gly) http://identifiers.org/clinvar/238454 ^@ NM_001128849.1(SMARCA4):c.4190T>G (p.Ile1397Ser) http://identifiers.org/clinvar/238455 ^@ NM_001128849.1(SMARCA4):c.4193A>G (p.His1398Arg) http://identifiers.org/clinvar/238456 ^@ NM_001128849.1(SMARCA4):c.4217G>A (p.Arg1406His) http://identifiers.org/clinvar/238457 ^@ NM_001128849.1(SMARCA4):c.4234C>T (p.Arg1412Cys) http://identifiers.org/clinvar/238458 ^@ NM_001128849.1(SMARCA4):c.4257T>A (p.Arg1419=) http://identifiers.org/clinvar/238459 ^@ NM_001128849.1(SMARCA4):c.4272C>T (p.Ile1424=) http://identifiers.org/clinvar/238460 ^@ NM_001128849.1(SMARCA4):c.4275G>A (p.Glu1425=) http://identifiers.org/clinvar/238461 ^@ NM_001128849.1(SMARCA4):c.4303G>A (p.Glu1435Lys) http://identifiers.org/clinvar/238462 ^@ NM_001128849.1(SMARCA4):c.4323A>G (p.Ser1441=) http://identifiers.org/clinvar/238463 ^@ NM_001128849.1(SMARCA4):c.4332G>A (p.Lys1444=) http://identifiers.org/clinvar/238464 ^@ NM_001128849.1(SMARCA4):c.4339C>T (p.Arg1447Ter) http://identifiers.org/clinvar/238465 ^@ NM_001128849.1(SMARCA4):c.4340G>A (p.Arg1447Gln) http://identifiers.org/clinvar/238466 ^@ NM_001128849.1(SMARCA4):c.4347C>T (p.Ser1449=) http://identifiers.org/clinvar/238467 ^@ NM_001128849.1(SMARCA4):c.4351G>A (p.Ala1451Thr) http://identifiers.org/clinvar/238468 ^@ NM_001128849.1(SMARCA4):c.4353C>T (p.Ala1451=) http://identifiers.org/clinvar/238469 ^@ NM_001128849.1(SMARCA4):c.4367C>G (p.Pro1456Arg) http://identifiers.org/clinvar/238470 ^@ NM_001128849.1(SMARCA4):c.4404G>A (p.Glu1468=) http://identifiers.org/clinvar/238471 ^@ NM_001128849.1(SMARCA4):c.4425C>T (p.Arg1475=) http://identifiers.org/clinvar/238472 ^@ NM_001128849.1(SMARCA4):c.4434G>A (p.Pro1478=) http://identifiers.org/clinvar/238473 ^@ NM_001128849.1(SMARCA4):c.4440C>T (p.Ala1480=) http://identifiers.org/clinvar/238474 ^@ NM_001128849.1(SMARCA4):c.4500C>T (p.Ala1500=) http://identifiers.org/clinvar/238475 ^@ NM_001128849.1(SMARCA4):c.4513A>G (p.Lys1505Glu) http://identifiers.org/clinvar/238477 ^@ NM_001128849.1(SMARCA4):c.4604A>T (p.Lys1535Met) http://identifiers.org/clinvar/238478 ^@ NM_001128849.1(SMARCA4):c.4608C>T (p.Pro1536=) http://identifiers.org/clinvar/238479 ^@ NM_001128849.1(SMARCA4):c.4614C>T (p.Asp1538=) http://identifiers.org/clinvar/238480 ^@ NM_001128849.1(SMARCA4):c.4692G>T (p.Leu1564=) http://identifiers.org/clinvar/238481 ^@ NM_001128849.1(SMARCA4):c.4732-10C>G http://identifiers.org/clinvar/238482 ^@ NM_001128849.1(SMARCA4):c.4734C>T (p.Ile1578=) http://identifiers.org/clinvar/238483 ^@ NM_001128849.1(SMARCA4):c.4774G>T (p.Val1592Leu) http://identifiers.org/clinvar/238484 ^@ NM_001128849.1(SMARCA4):c.4788C>T (p.Ile1596=) http://identifiers.org/clinvar/238485 ^@ NM_001128849.1(SMARCA4):c.4820G>A (p.Ser1607Asn) http://identifiers.org/clinvar/238486 ^@ NM_001128849.1(SMARCA4):c.4830G>A (p.Glu1610=) http://identifiers.org/clinvar/238487 ^@ NM_001128849.1(SMARCA4):c.4850G>C (p.Gly1617Ala) http://identifiers.org/clinvar/238488 ^@ NM_001128849.1(SMARCA4):c.4850G>T (p.Gly1617Val) http://identifiers.org/clinvar/238489 ^@ NM_001128849.1(SMARCA4):c.4854C>T (p.Ser1618=) http://identifiers.org/clinvar/238490 ^@ NM_001128849.1(SMARCA4):c.4859C>T (p.Ser1620Phe) http://identifiers.org/clinvar/238491 ^@ NM_001128849.1(SMARCA4):c.4913A>G (p.Gln1638Arg) http://identifiers.org/clinvar/238492 ^@ NM_001128849.1(SMARCA4):c.4921C>T (p.Leu1641=) http://identifiers.org/clinvar/238493 ^@ NM_001128849.1(SMARCA4):c.4930G>A (p.Gly1644Ser) http://identifiers.org/clinvar/238494 ^@ NM_001128849.1(SMARCA4):c.4937G>A (p.Arg1646Gln) http://identifiers.org/clinvar/238495 ^@ NM_001128849.1(SMARCA4):c.4943C>G (p.Pro1648Arg) http://identifiers.org/clinvar/238496 ^@ NM_001128849.1(SMARCA4):c.4943C>T (p.Pro1648Leu) http://identifiers.org/clinvar/238497 ^@ NM_001128849.1(SMARCA4):c.4968G>A (p.Pro1656=) http://identifiers.org/clinvar/238498 ^@ NM_001128849.1(SMARCA4):c.4971C>T (p.Val1657=) http://identifiers.org/clinvar/238499 ^@ NM_001128849.1(SMARCA4):c.5007+5G>A http://identifiers.org/clinvar/238500 ^@ NM_001128849.1(SMARCA4):c.5007+6G>C http://identifiers.org/clinvar/238501 ^@ NM_001128849.1(SMARCA4):c.5007+6G>T http://identifiers.org/clinvar/238502 ^@ NM_001128849.1(SMARCA4):c.5007+9G>A http://identifiers.org/clinvar/238503 ^@ NM_001128849.1(SMARCA4):c.5012G>A (p.Arg1671His) http://identifiers.org/clinvar/238504 ^@ NM_001128849.1(SMARCA4):c.5028C>T (p.Ser1676=) http://identifiers.org/clinvar/237861 ^@ NM_000527.4(LDLR):c.-188C>T http://identifiers.org/clinvar/237860 ^@ NM_000527.4(LDLR):c.12G>A (p.Trp4Ter) http://identifiers.org/clinvar/237864 ^@ NM_000527.4(LDLR):c.166T>C (p.Ser56Pro) http://identifiers.org/clinvar/237872 ^@ NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) http://identifiers.org/clinvar/237873 ^@ NM_000527.4(LDLR):c.352G>A (p.Asp118Asn) http://identifiers.org/clinvar/237870 ^@ NM_000527.4(LDLR):c.379delG (p.Val127Serfs) http://identifiers.org/clinvar/237874 ^@ NM_000527.4(LDLR):c.585C>A (p.Ser195Arg) http://identifiers.org/clinvar/237862 ^@ NM_000527.4(LDLR):c.1098_1109delGCTCTGCGTGAA (p.Gln366_Asn370delinsHis) http://identifiers.org/clinvar/237863 ^@ NM_000527.4(LDLR):c.1586G>A (p.Gly529Asp) http://identifiers.org/clinvar/237865 ^@ NM_000527.4(LDLR):c.1706-2A>T http://identifiers.org/clinvar/237867 ^@ NM_000527.4(LDLR):c.1721G>T (p.Arg574Leu) http://identifiers.org/clinvar/237868 ^@ NM_000527.4(LDLR):c.1887C>T (p.Phe629=) http://identifiers.org/clinvar/237869 ^@ NM_000527.4(LDLR):c.1920C>T (p.Asn640=) http://identifiers.org/clinvar/237866 ^@ NM_000527.4(LDLR):c.1974C>T (p.Leu658=) http://identifiers.org/clinvar/237871 ^@ NM_000527.4(LDLR):c.2551_2554delCAGA (p.Gln851Trpfs) http://identifiers.org/clinvar/241943 ^@ NM_145045.4(CCDC151):c.1705G>T (p.Val569Leu) http://identifiers.org/clinvar/241947 ^@ NM_145045.4(CCDC151):c.901A>G (p.Ile301Val) http://identifiers.org/clinvar/241946 ^@ NM_145045.4(CCDC151):c.729C>T (p.Asn243=) http://identifiers.org/clinvar/241945 ^@ NM_145045.4(CCDC151):c.614C>T (p.Thr205Ile) http://identifiers.org/clinvar/241944 ^@ NM_145045.4(CCDC151):c.216T>A (p.Ala72=) http://identifiers.org/clinvar/241942 ^@ NM_145045.4(CCDC151):c.148C>T (p.Pro50Ser) http://identifiers.org/clinvar/237806 ^@ NM_000455.4(STK11):c.94A>G (p.Thr32Ala) http://identifiers.org/clinvar/237809 ^@ NM_000455.4(STK11):c.99G>C (p.Glu33Asp) http://identifiers.org/clinvar/237791 ^@ NM_000455.4(STK11):c.120C>T (p.Arg40=) http://identifiers.org/clinvar/237796 ^@ NM_000455.4(STK11):c.180C>T (p.Tyr60=) http://identifiers.org/clinvar/237797 ^@ NM_000455.4(STK11):c.214C>T (p.Leu72=) http://identifiers.org/clinvar/237798 ^@ NM_000455.4(STK11):c.312G>A (p.Arg104=) http://identifiers.org/clinvar/237799 ^@ NM_000455.4(STK11):c.321C>T (p.His107=) http://identifiers.org/clinvar/237800 ^@ NM_000455.4(STK11):c.330C>T (p.Val110=) http://identifiers.org/clinvar/237801 ^@ NM_000455.4(STK11):c.460C>G (p.His154Asp) http://identifiers.org/clinvar/237802 ^@ NM_000455.4(STK11):c.464+8delC http://identifiers.org/clinvar/237803 ^@ NM_000455.4(STK11):c.465-8G>A http://identifiers.org/clinvar/237804 ^@ NM_000455.4(STK11):c.576C>G (p.Ile192Met) http://identifiers.org/clinvar/237805 ^@ NM_000455.4(STK11):c.724G>T (p.Gly242Trp) http://identifiers.org/clinvar/237807 ^@ NM_000455.4(STK11):c.957A>G (p.Pro319=) http://identifiers.org/clinvar/237808 ^@ NM_000455.4(STK11):c.963C>T (p.Pro321=) http://identifiers.org/clinvar/237785 ^@ NM_000455.4(STK11):c.1008T>C (p.Thr336=) http://identifiers.org/clinvar/237786 ^@ NM_000455.4(STK11):c.1107C>T (p.Pro369=) http://identifiers.org/clinvar/237787 ^@ NM_000455.4(STK11):c.1108+3G>A http://identifiers.org/clinvar/237788 ^@ NM_000455.4(STK11):c.1108+7C>A http://identifiers.org/clinvar/237789 ^@ NM_000455.4(STK11):c.1129G>C (p.Ala377Pro) http://identifiers.org/clinvar/237790 ^@ NM_000455.4(STK11):c.1162A>T (p.Lys388Ter) http://identifiers.org/clinvar/237792 ^@ NM_000455.4(STK11):c.1245C>T (p.Arg415=) http://identifiers.org/clinvar/237793 ^@ NM_000455.4(STK11):c.1253G>C (p.Cys418Ser) http://identifiers.org/clinvar/237794 ^@ NM_000455.4(STK11):c.1258G>A (p.Ala420Thr) http://identifiers.org/clinvar/237795 ^@ NM_000455.4(STK11):c.1277G>C (p.Arg426Pro) http://identifiers.org/clinvar/237120 ^@ NM_000156.5(GAMT):c.211A>G (p.Met71Val) http://identifiers.org/clinvar/241948 ^@ NM_145046.4(CALR3):c.1012-9T>C http://identifiers.org/clinvar/241952 ^@ NM_145046.4(CALR3):c.780G>T (p.Pro260=) http://identifiers.org/clinvar/241951 ^@ NM_145046.4(CALR3):c.483C>A (p.Ile161=) http://identifiers.org/clinvar/241949 ^@ NM_145046.4(CALR3):c.125A>G (p.Asn42Ser) http://identifiers.org/clinvar/241950 ^@ NM_145046.4(CALR3):c.38T>C (p.Met13Thr) http://identifiers.org/clinvar/238220 ^@ NM_001031726.3(C19orf12):c.249G>A (p.Pro83=) http://identifiers.org/clinvar/238219 ^@ NM_001031726.3(C19orf12):c.102G>A (p.Ala34=) http://identifiers.org/clinvar/239918 ^@ NM_004364.4(CEBPA):c.1021A>G (p.Ile341Val) http://identifiers.org/clinvar/239917 ^@ NM_004364.4(CEBPA):c.1018G>A (p.Gly340Ser) http://identifiers.org/clinvar/239927 ^@ NM_004364.4(CEBPA):c.724G>A (p.Gly242Ser) http://identifiers.org/clinvar/239926 ^@ NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) http://identifiers.org/clinvar/239925 ^@ NM_004364.4(CEBPA):c.576G>A (p.Pro192=) http://identifiers.org/clinvar/239924 ^@ NM_004364.4(CEBPA):c.558_566delGCCGCCGCC (p.Pro187_Pro189del) http://identifiers.org/clinvar/239923 ^@ NM_004364.4(CEBPA):c.402G>A (p.Ala134=) http://identifiers.org/clinvar/239922 ^@ NM_004364.4(CEBPA):c.383C>G (p.Pro128Arg) http://identifiers.org/clinvar/239921 ^@ NM_004364.4(CEBPA):c.277_278delGCinsAA (p.Ala93Lys) http://identifiers.org/clinvar/239920 ^@ NM_004364.4(CEBPA):c.252C>G (p.His84Gln) http://identifiers.org/clinvar/239919 ^@ NM_004364.4(CEBPA):c.174C>T (p.His58=) http://identifiers.org/clinvar/242250 ^@ NM_199037.4(SCN1B):c.673C>T (p.Arg225Cys) http://identifiers.org/clinvar/242251 ^@ NM_199037.4(SCN1B):c.768C>T (p.Pro256=) http://identifiers.org/clinvar/241375 ^@ NM_021175.3(HAMP):c.175C>G (p.Arg59Gly) http://identifiers.org/clinvar/242186 ^@ NM_181882.2(PRX):c.4304T>C (p.Val1435Ala) http://identifiers.org/clinvar/242185 ^@ NM_181882.2(PRX):c.4171C>G (p.Arg1391Gly) http://identifiers.org/clinvar/242184 ^@ NM_181882.2(PRX):c.4074_4079delGGAGGA (p.Glu1360_Glu1361del) http://identifiers.org/clinvar/242183 ^@ NM_181882.2(PRX):c.3562C>T (p.Pro1188Ser) http://identifiers.org/clinvar/242182 ^@ NM_181882.2(PRX):c.2730C>T (p.Ala910=) http://identifiers.org/clinvar/242181 ^@ NM_181882.2(PRX):c.2690G>A (p.Arg897Gln) http://identifiers.org/clinvar/242180 ^@ NM_181882.2(PRX):c.2101G>A (p.Val701Met) http://identifiers.org/clinvar/242179 ^@ NM_181882.2(PRX):c.1574T>C (p.Val525Ala) http://identifiers.org/clinvar/242178 ^@ NM_181882.2(PRX):c.1019C>T (p.Pro340Leu) http://identifiers.org/clinvar/242187 ^@ NM_181882.2(PRX):c.922A>G (p.Thr308Ala) http://identifiers.org/clinvar/241603 ^@ NM_030578.3(B9D2):c.195C>T (p.Phe65=) http://identifiers.org/clinvar/238215 ^@ NM_001022.3(RPS19):c.72-92A>G http://identifiers.org/clinvar/238214 ^@ NM_001022.3(RPS19):c.356+18G>C http://identifiers.org/clinvar/240192 ^@ NM_005619.4(RTN2):c.1143G>A (p.Ala381=) http://identifiers.org/clinvar/240191 ^@ NM_005619.4(RTN2):c.1140C>T (p.Ala380=) http://identifiers.org/clinvar/240194 ^@ NM_005619.4(RTN2):c.444C>G (p.Gly148=) http://identifiers.org/clinvar/240193 ^@ NM_005619.4(RTN2):c.351A>G (p.Gln117=) http://identifiers.org/clinvar/240116 ^@ NM_005184.3(CALM3):c.183C>T (p.Asn61=) http://identifiers.org/clinvar/240117 ^@ NM_005184.3(CALM3):c.201G>A (p.Pro67=) http://identifiers.org/clinvar/240118 ^@ NM_005184.3(CALM3):c.390C>T (p.Asp130=) http://identifiers.org/clinvar/241456 ^@ NM_024301.4(FKRP):c.114G>T (p.Gly38=) http://identifiers.org/clinvar/241457 ^@ NM_024301.4(FKRP):c.466G>A (p.Val156Met) http://identifiers.org/clinvar/241458 ^@ NM_024301.4(FKRP):c.582G>A (p.Leu194=) http://identifiers.org/clinvar/241459 ^@ NM_024301.4(FKRP):c.655G>A (p.Gly219Ser) http://identifiers.org/clinvar/241460 ^@ NM_024301.4(FKRP):c.898G>A (p.Val300Met) http://identifiers.org/clinvar/241455 ^@ NM_024301.4(FKRP):c.1020C>T (p.Tyr340=) http://identifiers.org/clinvar/241877 ^@ NM_144577.3(CCDC114):c.1959C>T (p.Gly653=) http://identifiers.org/clinvar/241876 ^@ NM_144577.3(CCDC114):c.1916G>A (p.Ser639Asn) http://identifiers.org/clinvar/241875 ^@ NM_144577.3(CCDC114):c.1677C>T (p.His559=) http://identifiers.org/clinvar/241873 ^@ NM_144577.3(CCDC114):c.1525G>A (p.Ala509Thr) http://identifiers.org/clinvar/241872 ^@ NM_144577.3(CCDC114):c.1521C>T (p.Ala507=) http://identifiers.org/clinvar/241871 ^@ NM_144577.3(CCDC114):c.1519G>A (p.Ala507Thr) http://identifiers.org/clinvar/241870 ^@ NM_144577.3(CCDC114):c.1470+4A>G http://identifiers.org/clinvar/241869 ^@ NM_144577.3(CCDC114):c.1314C>T (p.Asp438=) http://identifiers.org/clinvar/241868 ^@ NM_144577.3(CCDC114):c.1103G>A (p.Arg368Gln) http://identifiers.org/clinvar/241880 ^@ NM_144577.3(CCDC114):c.714C>T (p.Pro238=) http://identifiers.org/clinvar/241879 ^@ NM_144577.3(CCDC114):c.619G>A (p.Glu207Lys) http://identifiers.org/clinvar/241878 ^@ NM_144577.3(CCDC114):c.592C>T (p.Arg198Cys) http://identifiers.org/clinvar/241874 ^@ NM_144577.3(CCDC114):c.155G>C (p.Arg52Pro) http://identifiers.org/clinvar/241179 ^@ NM_017636.3(TRPM4):c.448+6C>T http://identifiers.org/clinvar/241180 ^@ NM_017636.3(TRPM4):c.449-10G>A http://identifiers.org/clinvar/241181 ^@ NM_017636.3(TRPM4):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/241182 ^@ NM_017636.3(TRPM4):c.755G>A (p.Arg252His) http://identifiers.org/clinvar/241172 ^@ NM_017636.3(TRPM4):c.1003A>G (p.Ile335Val) http://identifiers.org/clinvar/241173 ^@ NM_017636.3(TRPM4):c.1368C>G (p.Thr456=) http://identifiers.org/clinvar/241174 ^@ NM_017636.3(TRPM4):c.1380G>C (p.Leu460=) http://identifiers.org/clinvar/241175 ^@ NM_017636.3(TRPM4):c.1459_1494del36 (p.Lys487_Leu498del) http://identifiers.org/clinvar/241176 ^@ NM_017636.3(TRPM4):c.1575G>A (p.Trp525Ter) http://identifiers.org/clinvar/241177 ^@ NM_017636.3(TRPM4):c.2740A>T (p.Lys914Ter) http://identifiers.org/clinvar/241178 ^@ NM_017636.3(TRPM4):c.3405A>C (p.Ala1135=) http://identifiers.org/clinvar/241615 ^@ NM_030973.3(MED25):c.904C>T (p.Arg302Cys) http://identifiers.org/clinvar/241614 ^@ NM_030973.3(MED25):c.1952T>G (p.Leu651Arg) http://identifiers.org/clinvar/239235 ^@ NM_002691.3(POLD1):c.13C>T (p.Arg5Trp) http://identifiers.org/clinvar/239256 ^@ NM_002691.3(POLD1):c.17G>C (p.Arg6Pro) http://identifiers.org/clinvar/239344 ^@ NM_002691.3(POLD1):c.33C>T (p.Pro11=) http://identifiers.org/clinvar/239245 ^@ NM_002691.3(POLD1):c.156G>A (p.Glu52=) http://identifiers.org/clinvar/239266 ^@ NM_002691.3(POLD1):c.201C>T (p.Asp67=) http://identifiers.org/clinvar/239267 ^@ NM_002691.3(POLD1):c.203G>A (p.Gly68Glu) http://identifiers.org/clinvar/239270 ^@ NM_002691.3(POLD1):c.208G>A (p.Val70Ile) http://identifiers.org/clinvar/239277 ^@ NM_002691.3(POLD1):c.224T>C (p.Ile75Thr) http://identifiers.org/clinvar/239286 ^@ NM_002691.3(POLD1):c.232C>T (p.Arg78Cys) http://identifiers.org/clinvar/239294 ^@ NM_002691.3(POLD1):c.245C>T (p.Pro82Leu) http://identifiers.org/clinvar/239304 ^@ NM_002691.3(POLD1):c.258G>A (p.Ala86=) http://identifiers.org/clinvar/239333 ^@ NM_002691.3(POLD1):c.317-10G>A http://identifiers.org/clinvar/239343 ^@ NM_002691.3(POLD1):c.334C>T (p.Pro112Ser) http://identifiers.org/clinvar/239345 ^@ NM_002691.3(POLD1):c.353C>T (p.Ser118Phe) http://identifiers.org/clinvar/239346 ^@ NM_002691.3(POLD1):c.355C>T (p.Arg119Cys) http://identifiers.org/clinvar/239347 ^@ NM_002691.3(POLD1):c.394G>A (p.Asp132Asn) http://identifiers.org/clinvar/239348 ^@ NM_002691.3(POLD1):c.455C>T (p.Ala152Val) http://identifiers.org/clinvar/239349 ^@ NM_002691.3(POLD1):c.469G>A (p.Gly157Arg) http://identifiers.org/clinvar/239350 ^@ NM_002691.3(POLD1):c.497G>A (p.Arg166Gln) http://identifiers.org/clinvar/239351 ^@ NM_002691.3(POLD1):c.520C>T (p.Arg174Trp) http://identifiers.org/clinvar/239352 ^@ NM_002691.3(POLD1):c.521G>A (p.Arg174Gln) http://identifiers.org/clinvar/239353 ^@ NM_002691.3(POLD1):c.529C>T (p.Arg177Cys) http://identifiers.org/clinvar/239354 ^@ NM_002691.3(POLD1):c.531C>T (p.Arg177=) http://identifiers.org/clinvar/239355 ^@ NM_002691.3(POLD1):c.574C>T (p.Leu192=) http://identifiers.org/clinvar/239356 ^@ NM_002691.3(POLD1):c.581C>G (p.Ser194Cys) http://identifiers.org/clinvar/239357 ^@ NM_002691.3(POLD1):c.583C>T (p.Arg195Ter) http://identifiers.org/clinvar/239358 ^@ NM_002691.3(POLD1):c.597T>C (p.Phe199=) http://identifiers.org/clinvar/239359 ^@ NM_002691.3(POLD1):c.601T>C (p.Tyr201His) http://identifiers.org/clinvar/239360 ^@ NM_002691.3(POLD1):c.612C>T (p.His204=) http://identifiers.org/clinvar/239361 ^@ NM_002691.3(POLD1):c.624G>A (p.Pro208=) http://identifiers.org/clinvar/239362 ^@ NM_002691.3(POLD1):c.645G>A (p.Ala215=) http://identifiers.org/clinvar/239363 ^@ NM_002691.3(POLD1):c.645G>C (p.Ala215=) http://identifiers.org/clinvar/239364 ^@ NM_002691.3(POLD1):c.651G>A (p.Pro217=) http://identifiers.org/clinvar/239365 ^@ NM_002691.3(POLD1):c.653G>A (p.Arg218His) http://identifiers.org/clinvar/239366 ^@ NM_002691.3(POLD1):c.733G>A (p.Glu245Lys) http://identifiers.org/clinvar/239367 ^@ NM_002691.3(POLD1):c.758+5G>A http://identifiers.org/clinvar/239368 ^@ NM_002691.3(POLD1):c.784G>A (p.Gly262Ser) http://identifiers.org/clinvar/239369 ^@ NM_002691.3(POLD1):c.804C>T (p.Leu268=) http://identifiers.org/clinvar/239370 ^@ NM_002691.3(POLD1):c.820G>A (p.Ala274Thr) http://identifiers.org/clinvar/239371 ^@ NM_002691.3(POLD1):c.866A>G (p.Asp289Gly) http://identifiers.org/clinvar/239372 ^@ NM_002691.3(POLD1):c.882C>T (p.Asp294=) http://identifiers.org/clinvar/239373 ^@ NM_002691.3(POLD1):c.883G>A (p.Val295Met) http://identifiers.org/clinvar/239374 ^@ NM_002691.3(POLD1):c.885G>C (p.Val295=) http://identifiers.org/clinvar/239375 ^@ NM_002691.3(POLD1):c.900G>C (p.Pro300=) http://identifiers.org/clinvar/239376 ^@ NM_002691.3(POLD1):c.918C>A (p.Arg306=) http://identifiers.org/clinvar/239377 ^@ NM_002691.3(POLD1):c.970+9C>T http://identifiers.org/clinvar/239378 ^@ NM_002691.3(POLD1):c.971-4G>A http://identifiers.org/clinvar/239216 ^@ NM_002691.3(POLD1):c.1017G>T (p.Ser339=) http://identifiers.org/clinvar/239217 ^@ NM_002691.3(POLD1):c.1028G>C (p.Arg343Pro) http://identifiers.org/clinvar/239218 ^@ NM_002691.3(POLD1):c.1061C>T (p.Ala354Val) http://identifiers.org/clinvar/239219 ^@ NM_002691.3(POLD1):c.1062G>A (p.Ala354=) http://identifiers.org/clinvar/239220 ^@ NM_002691.3(POLD1):c.1073G>A (p.Arg358Gln) http://identifiers.org/clinvar/239221 ^@ NM_002691.3(POLD1):c.1092G>C (p.Leu364=) http://identifiers.org/clinvar/239222 ^@ NM_002691.3(POLD1):c.1137+9C>T http://identifiers.org/clinvar/239223 ^@ NM_002691.3(POLD1):c.1138-3C>T http://identifiers.org/clinvar/239224 ^@ NM_002691.3(POLD1):c.1157G>A (p.Arg386His) http://identifiers.org/clinvar/239225 ^@ NM_002691.3(POLD1):c.1182C>T (p.Thr394=) http://identifiers.org/clinvar/239226 ^@ NM_002691.3(POLD1):c.1194C>G (p.Ile398Met) http://identifiers.org/clinvar/239227 ^@ NM_002691.3(POLD1):c.1226G>A (p.Arg409Gln) http://identifiers.org/clinvar/239228 ^@ NM_002691.3(POLD1):c.1295G>A (p.Arg432Gln) http://identifiers.org/clinvar/239229 ^@ NM_002691.3(POLD1):c.1298A>C (p.Asp433Ala) http://identifiers.org/clinvar/239230 ^@ NM_002691.3(POLD1):c.1322C>T (p.Thr441Met) http://identifiers.org/clinvar/239231 ^@ NM_002691.3(POLD1):c.1362C>T (p.Arg454=) http://identifiers.org/clinvar/239232 ^@ NM_002691.3(POLD1):c.1366C>G (p.Gln456Glu) http://identifiers.org/clinvar/239233 ^@ NM_002691.3(POLD1):c.1383+8C>T http://identifiers.org/clinvar/239234 ^@ NM_002691.3(POLD1):c.1384-8C>A http://identifiers.org/clinvar/239236 ^@ NM_002691.3(POLD1):c.1419G>A (p.Thr473=) http://identifiers.org/clinvar/239237 ^@ NM_002691.3(POLD1):c.1428C>T (p.Ala476=) http://identifiers.org/clinvar/239238 ^@ NM_002691.3(POLD1):c.1449C>T (p.Gly483=) http://identifiers.org/clinvar/239239 ^@ NM_002691.3(POLD1):c.1494+5C>T http://identifiers.org/clinvar/239240 ^@ NM_002691.3(POLD1):c.1503C>T (p.Asn501=) http://identifiers.org/clinvar/239242 ^@ NM_002691.3(POLD1):c.1517G>A (p.Arg506His) http://identifiers.org/clinvar/239243 ^@ NM_002691.3(POLD1):c.1519C>T (p.Arg507Cys) http://identifiers.org/clinvar/239244 ^@ NM_002691.3(POLD1):c.1562G>A (p.Arg521Gln) http://identifiers.org/clinvar/239246 ^@ NM_002691.3(POLD1):c.1597G>A (p.Val533Met) http://identifiers.org/clinvar/239241 ^@ NM_002691.3(POLD1):c.1626C>T (p.Pro542=) http://identifiers.org/clinvar/239247 ^@ NM_002691.3(POLD1):c.1646G>A (p.Arg549His) http://identifiers.org/clinvar/239248 ^@ NM_002691.3(POLD1):c.1665C>T (p.Val555=) http://identifiers.org/clinvar/239249 ^@ NM_002691.3(POLD1):c.1666G>A (p.Val556Ile) http://identifiers.org/clinvar/239250 ^@ NM_002691.3(POLD1):c.1674G>A (p.Gln558=) http://identifiers.org/clinvar/239251 ^@ NM_002691.3(POLD1):c.1687-3C>A http://identifiers.org/clinvar/239252 ^@ NM_002691.3(POLD1):c.1713C>T (p.Pro571=) http://identifiers.org/clinvar/239253 ^@ NM_002691.3(POLD1):c.1768C>T (p.Leu590Phe) http://identifiers.org/clinvar/239254 ^@ NM_002691.3(POLD1):c.1775+2T>A http://identifiers.org/clinvar/239255 ^@ NM_002691.3(POLD1):c.1794C>T (p.Ile598=) http://identifiers.org/clinvar/239257 ^@ NM_002691.3(POLD1):c.1830C>T (p.Ile610=) http://identifiers.org/clinvar/239258 ^@ NM_002691.3(POLD1):c.1884G>A (p.Gln628=) http://identifiers.org/clinvar/239259 ^@ NM_002691.3(POLD1):c.1925C>G (p.Thr642Ser) http://identifiers.org/clinvar/239260 ^@ NM_002691.3(POLD1):c.1932C>G (p.Asp644Glu) http://identifiers.org/clinvar/239261 ^@ NM_002691.3(POLD1):c.1932C>T (p.Asp644=) http://identifiers.org/clinvar/239262 ^@ NM_002691.3(POLD1):c.1955G>A (p.Arg652Gln) http://identifiers.org/clinvar/239263 ^@ NM_002691.3(POLD1):c.1986C>A (p.Asn662Lys) http://identifiers.org/clinvar/239264 ^@ NM_002691.3(POLD1):c.1993A>G (p.Ser665Gly) http://identifiers.org/clinvar/239265 ^@ NM_002691.3(POLD1):c.2007-5C>T http://identifiers.org/clinvar/239268 ^@ NM_002691.3(POLD1):c.2044C>T (p.Arg682Trp) http://identifiers.org/clinvar/239269 ^@ NM_002691.3(POLD1):c.2052G>C (p.Gln684His) http://identifiers.org/clinvar/239271 ^@ NM_002691.3(POLD1):c.2103C>T (p.Tyr701=) http://identifiers.org/clinvar/239272 ^@ NM_002691.3(POLD1):c.2154+4G>A http://identifiers.org/clinvar/239273 ^@ NM_002691.3(POLD1):c.2155-6C>T http://identifiers.org/clinvar/239274 ^@ NM_002691.3(POLD1):c.2163G>A (p.Thr721=) http://identifiers.org/clinvar/239275 ^@ NM_002691.3(POLD1):c.2173C>T (p.Arg725Cys) http://identifiers.org/clinvar/239276 ^@ NM_002691.3(POLD1):c.2248A>G (p.Lys750Glu) http://identifiers.org/clinvar/239278 ^@ NM_002691.3(POLD1):c.2250+4G>A http://identifiers.org/clinvar/239279 ^@ NM_002691.3(POLD1):c.2251-8G>A http://identifiers.org/clinvar/239280 ^@ NM_002691.3(POLD1):c.2285G>A (p.Arg762Gln) http://identifiers.org/clinvar/239281 ^@ NM_002691.3(POLD1):c.2290G>A (p.Gly764Ser) http://identifiers.org/clinvar/239282 ^@ NM_002691.3(POLD1):c.2293G>A (p.Val765Met) http://identifiers.org/clinvar/283395 ^@ NC_000008.10:g.2460G>A http://identifiers.org/clinvar/283396 ^@ NM_004006.2(DMD):c.1387_1408del22 (p.Trp463Glufs) http://identifiers.org/clinvar/283397 ^@ NM_201382.3(PLEC):c.4555_4556delTCinsGA (p.Ser1519Glu) http://identifiers.org/clinvar/283398 ^@ NM_170708.3(LMNA):c.897C>G (p.Ile299Met) http://identifiers.org/clinvar/283399 ^@ NM_004369.3(COL6A3):c.3715G>A (p.Asp1239Asn) http://identifiers.org/clinvar/283400 ^@ NM_001101426.3(ISPD):c.839G>T (p.Arg280Ile) http://identifiers.org/clinvar/283401 ^@ NM_201384.2(PLEC):c.12863C>T (p.Thr4288Met) http://identifiers.org/clinvar/283402 ^@ NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp) http://identifiers.org/clinvar/283403 ^@ NM_058246.3(DNAJB6):c.428C>T (p.Ala143Val) http://identifiers.org/clinvar/283404 ^@ NM_201383.2(PLEC):c.933C>T (p.Phe311=) http://identifiers.org/clinvar/283405 ^@ NM_201383.2(PLEC):c.4090G>A (p.Glu1364Lys) http://identifiers.org/clinvar/283406 ^@ NM_004369.3(COL6A3):c.9209A>G (p.Tyr3070Cys) http://identifiers.org/clinvar/283407 ^@ NM_182914.2(SYNE2):c.19417G>C (p.Asp6473His) http://identifiers.org/clinvar/283408 ^@ NM_182914.2(SYNE2):c.6599A>G (p.Lys2200Arg) http://identifiers.org/clinvar/283409 ^@ NM_001849.3(COL6A2):c.1215T>C (p.Pro405=) http://identifiers.org/clinvar/283410 ^@ NM_033071.3(SYNE1):c.602+10A>G http://identifiers.org/clinvar/283411 ^@ NM_182914.2(SYNE2):c.2013G>A (p.Leu671=) http://identifiers.org/clinvar/283412 ^@ NM_003494.3(DYSF):c.937+2T>C http://identifiers.org/clinvar/283413 ^@ NM_004006.2(DMD):c.2168+2T>G http://identifiers.org/clinvar/283414 ^@ NM_001267550.2(TTN):c.26827G>A (p.Val8943Ile) http://identifiers.org/clinvar/283415 ^@ NM_001848.2(COL6A1):c.1477C>A (p.Pro493Thr) http://identifiers.org/clinvar/283416 ^@ NM_001267550.2(TTN):c.97493-5T>C http://identifiers.org/clinvar/283417 ^@ NM_000291.3(PGK1):c.1105A>C (p.Thr369Pro) http://identifiers.org/clinvar/283418 ^@ NM_005609.3(PYGM):c.1349C>T (p.Ser450Leu) http://identifiers.org/clinvar/283419 ^@ NM_005609.3(PYGM):c.131G>A (p.Arg44His) http://identifiers.org/clinvar/283420 ^@ NM_024757.4(EHMT1):c.188C>T (p.Ala63Val) http://identifiers.org/clinvar/283421 ^@ NM_000501.3(ELN):c.470-10C>G http://identifiers.org/clinvar/283422 ^@ NM_001278074.1(COL5A1):c.94C>T (p.Pro32Ser) http://identifiers.org/clinvar/283423 ^@ NM_017950.3(CCDC40):c.1440+1G>C http://identifiers.org/clinvar/283424 ^@ NM_017866.5(TMEM70):c.718_721delAAAG (p.Glu241Asnfs) http://identifiers.org/clinvar/283425 ^@ NM_000539.3(RHO):c.850G>A (p.Gly284Ser) http://identifiers.org/clinvar/283426 ^@ NM_213613.3(SLC26A1):c.747G>A (p.Trp249Ter) http://identifiers.org/clinvar/283427 ^@ NM_213613.3(SLC26A1):c.1612C>T (p.Arg538Trp) http://identifiers.org/clinvar/283428 ^@ NM_003179.2(SYP):c.*1T>A http://identifiers.org/clinvar/283429 ^@ NM_005647.3(TBL1X):c.88C>T (p.Arg30Cys) http://identifiers.org/clinvar/283430 ^@ NM_177965.3(C8orf37):c.521A>G (p.Lys174Arg) http://identifiers.org/clinvar/283431 ^@ NM_000280.4(PAX6):c.233T>C (p.Val78Ala) http://identifiers.org/clinvar/283432 ^@ NM_201382.3(PLEC):c.837G>A (p.Leu279=) http://identifiers.org/clinvar/283433 ^@ NM_033071.3(SYNE1):c.20437A>G (p.Ile6813Val) http://identifiers.org/clinvar/283434 ^@ NM_201380.3(PLEC):c.13620G>A (p.Pro4540=) http://identifiers.org/clinvar/283435 ^@ NM_182914.2(SYNE2):c.10331C>T (p.Ser3444Leu) http://identifiers.org/clinvar/283436 ^@ NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) http://identifiers.org/clinvar/283437 ^@ NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) http://identifiers.org/clinvar/283438 ^@ NM_013382.5(POMT2):c.1977G>C (p.Arg659=) http://identifiers.org/clinvar/283439 ^@ NM_033071.3(SYNE1):c.6542C>T (p.Thr2181Ile) http://identifiers.org/clinvar/283440 ^@ NM_033071.3(SYNE1):c.18361-8A>C http://identifiers.org/clinvar/283441 ^@ NM_004369.3(COL6A3):c.7796_7797delTT (p.Phe2599Trpfs) http://identifiers.org/clinvar/283442 ^@ NM_001849.3(COL6A2):c.1269+7C>T http://identifiers.org/clinvar/283443 ^@ NM_004369.3(COL6A3):c.9451A>G (p.Lys3151Glu) http://identifiers.org/clinvar/283444 ^@ NM_213599.2(ANO5):c.1548C>T (p.Leu516=) http://identifiers.org/clinvar/283445 ^@ NM_001849.3(COL6A2):c.2258C>T (p.Thr753Ile) http://identifiers.org/clinvar/283446 ^@ NM_001267550.2(TTN):c.70026T>C (p.Pro23342=) http://identifiers.org/clinvar/283447 ^@ NM_012470.3(TNPO3):c.2625C>T (p.Ser875=) http://identifiers.org/clinvar/283448 ^@ NM_000023.3(SGCA):c.80C>T (p.Thr27Met) http://identifiers.org/clinvar/283449 ^@ NM_000152.4(GAA):c.1195-4G>T http://identifiers.org/clinvar/283450 ^@ NM_001256850.1(TTN):c.82026A>G (p.Glu27342=) http://identifiers.org/clinvar/283451 ^@ NM_007171.3(POMT1):c.934C>T (p.Arg312Trp) http://identifiers.org/clinvar/283452 ^@ NM_001267550.2(TTN):c.82276G>A (p.Ala27426Thr) http://identifiers.org/clinvar/283453 ^@ NM_001267550.2(TTN):c.63112G>A (p.Val21038Ile) http://identifiers.org/clinvar/283454 ^@ NM_033071.3(SYNE1):c.19987-3T>C http://identifiers.org/clinvar/283455 ^@ NM_000152.4(GAA):c.1240T>C (p.Phe414Leu) http://identifiers.org/clinvar/283456 ^@ NM_033071.3(SYNE1):c.21109G>A (p.Gly7037Ser) http://identifiers.org/clinvar/283457 ^@ NM_000232.4(SGCB):c.23_24insGGCGGC (p.Ala9_Glu10insAlaAla) http://identifiers.org/clinvar/283458 ^@ NM_001848.2(COL6A1):c.2910C>T (p.Phe970=) http://identifiers.org/clinvar/283459 ^@ NM_003494.3(DYSF):c.1385G>A (p.Arg462His) http://identifiers.org/clinvar/283460 ^@ NM_001848.2(COL6A1):c.2875G>A (p.Val959Met) http://identifiers.org/clinvar/283461 ^@ NM_182914.2(SYNE2):c.3730A>G (p.Met1244Val) http://identifiers.org/clinvar/283462 ^@ NM_201382.3(PLEC):c.5593C>T (p.Arg1865Cys) http://identifiers.org/clinvar/283463 ^@ NM_201382.3(PLEC):c.10779G>A (p.Ser3593=) http://identifiers.org/clinvar/283464 ^@ NM_201381.2(PLEC):c.6396C>T (p.Asp2132=) http://identifiers.org/clinvar/283465 ^@ NM_001130987.1(DYSF):c.3483delC (p.Cys1162Alafs) http://identifiers.org/clinvar/283466 ^@ NM_003494.3(DYSF):c.1708C>T (p.Gln570Ter) http://identifiers.org/clinvar/283467 ^@ NM_001927.3(DES):c.924C>T (p.Asn308=) http://identifiers.org/clinvar/283468 ^@ NM_001079802.1(FKTN):c.*4388delA http://identifiers.org/clinvar/283469 ^@ NM_001079802.1(FKTN):c.1228C>A (p.His410Asn) http://identifiers.org/clinvar/283470 ^@ NM_000445.4(PLEC):c.6321C>T (p.Arg2107=) http://identifiers.org/clinvar/283471 ^@ NM_001130987.1(DYSF):c.4576G>T (p.Glu1526Ter) http://identifiers.org/clinvar/283472 ^@ NM_001267550.2(TTN):c.85309G>A (p.Gly28437Ser) http://identifiers.org/clinvar/283473 ^@ NM_012210.3(TRIM32):c.370C>T (p.Arg124Trp) http://identifiers.org/clinvar/283474 ^@ NM_001130987.1(DYSF):c.5785-7G>A http://identifiers.org/clinvar/283475 ^@ NM_003494.3(DYSF):c.5947-1G>C http://identifiers.org/clinvar/283476 ^@ NM_012470.3(TNPO3):c.2655G>A (p.Val885=) http://identifiers.org/clinvar/283477 ^@ NM_013382.5(POMT2):c.2223A>G (p.Gly741=) http://identifiers.org/clinvar/283478 ^@ NM_001267550.2(TTN):c.49465A>C (p.Arg16489=) http://identifiers.org/clinvar/283479 ^@ NM_001130987.1(DYSF):c.2943C>T (p.Gly981=) http://identifiers.org/clinvar/283480 ^@ NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) http://identifiers.org/clinvar/283481 ^@ NM_001243766.1(POMGNT1):c.561C>G (p.Asp187Glu) http://identifiers.org/clinvar/283482 ^@ NM_004369.3(COL6A3):c.4065G>A (p.Pro1355=) http://identifiers.org/clinvar/283483 ^@ NM_001130987.1(DYSF):c.3160A>G (p.Thr1054Ala) http://identifiers.org/clinvar/283484 ^@ NM_001130987.1(DYSF):c.2011G>A (p.Gly671Ser) http://identifiers.org/clinvar/283485 ^@ NM_000203.4(IDUA):c.299+7G>A http://identifiers.org/clinvar/283486 ^@ NM_000017.3(ACADS):c.567C>G (p.Ala189=) http://identifiers.org/clinvar/283487 ^@ NM_003494.3(DYSF):c.3498G>A (p.Ala1166=) http://identifiers.org/clinvar/283488 ^@ NM_133378.4(TTN):c.45803G>A (p.Arg15268His) http://identifiers.org/clinvar/283489 ^@ NM_000445.4(PLEC):c.4620_4649del30 (p.Val1542_Glu1551del) http://identifiers.org/clinvar/283490 ^@ NM_006790.2(MYOT):c.656G>A (p.Arg219Gln) http://identifiers.org/clinvar/283491 ^@ NM_012470.3(TNPO3):c.2274-5A>G http://identifiers.org/clinvar/283492 ^@ NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln) http://identifiers.org/clinvar/283493 ^@ NM_182914.2(SYNE2):c.12109-10_12109-7delTTCT http://identifiers.org/clinvar/283494 ^@ NM_000152.4(GAA):c.-2C>T http://identifiers.org/clinvar/283495 ^@ NM_000152.4(GAA):c.368G>A (p.Gly123Glu) http://identifiers.org/clinvar/283496 ^@ NM_000152.4(GAA):c.351G>A (p.Leu117=) http://identifiers.org/clinvar/283497 ^@ NM_001130987.1(DYSF):c.159G>A (p.Trp53Ter) http://identifiers.org/clinvar/283498 ^@ NM_000152.4(GAA):c.1343G>C (p.Ser448Thr) http://identifiers.org/clinvar/283499 ^@ NM_182914.2(SYNE2):c.20516+10C>T http://identifiers.org/clinvar/283500 ^@ NM_004006.2(DMD):c.10223+20G>A http://identifiers.org/clinvar/283501 ^@ NM_130445.3(COL18A1):c.2840G>A (p.Arg947His) http://identifiers.org/clinvar/283502 ^@ NM_001852.3(COL9A2):c.481G>A (p.Gly161Arg) http://identifiers.org/clinvar/283503 ^@ NM_178857.5(RP1L1):c.3200G>C (p.Gly1067Ala) http://identifiers.org/clinvar/283504 ^@ NM_004562.2(PRKN):c.1310C>T (p.Pro437Leu) http://identifiers.org/clinvar/283505 ^@ NM_004321.7(KIF1A):c.864+16C>T http://identifiers.org/clinvar/283506 ^@ NM_173500.3(TTBK2):c.-8G>A http://identifiers.org/clinvar/283507 ^@ NM_000153.3(GALC):c.832A>C (p.Thr278Pro) http://identifiers.org/clinvar/283508 ^@ NM_001848.2(COL6A1):c.1075_1076delGGinsAA (p.Gly359Asn) http://identifiers.org/clinvar/283509 ^@ NM_213599.2(ANO5):c.44A>G (p.Glu15Gly) http://identifiers.org/clinvar/283510 ^@ NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) http://identifiers.org/clinvar/283511 ^@ NM_002241.4(KCNJ10):c.21G>T (p.Val7=) http://identifiers.org/clinvar/283512 ^@ NM_032119.3(ADGRV1):c.17758C>A (p.Leu5920Ile) http://identifiers.org/clinvar/283513 ^@ NM_001110556.1(FLNA):c.5055G>A (p.Thr1685=) http://identifiers.org/clinvar/283514 ^@ NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) http://identifiers.org/clinvar/283515 ^@ NM_000833.4(GRIN2A):c.3722G>A (p.Arg1241Gln) http://identifiers.org/clinvar/283516 ^@ NM_004380.2(CREBBP):c.6678G>A (p.Ala2226=) http://identifiers.org/clinvar/283517 ^@ NM_001852.3(COL9A2):c.1219C>A (p.Pro407Thr) http://identifiers.org/clinvar/283518 ^@ NM_004530.5(MMP2):c.759C>T (p.Ser253=) http://identifiers.org/clinvar/283519 ^@ NM_001080463.1(DYNC2H1):c.5473A>G (p.Ile1825Val) http://identifiers.org/clinvar/283520 ^@ NM_006037.3(HDAC4):c.2356G>A (p.Ala786Thr) http://identifiers.org/clinvar/283521 ^@ NM_005529.6(HSPG2):c.2725G>A (p.Gly909Ser) http://identifiers.org/clinvar/283522 ^@ NM_001243246.1(P3H1):c.1322A>G (p.Asp441Gly) http://identifiers.org/clinvar/283523 ^@ NM_000088.3(COL1A1):c.2614-8C>T http://identifiers.org/clinvar/283524 ^@ NM_000272.3(NPHP1):c.555dupA (p.Pro186Thrfs) http://identifiers.org/clinvar/283525 ^@ NM_020686.5(ABAT):c.641T>C (p.Met214Thr) http://identifiers.org/clinvar/283526 ^@ NM_001143979.1(NDE1):c.486C>T (p.Leu162=) http://identifiers.org/clinvar/283527 ^@ NM_001110556.1(FLNA):c.6804T>C (p.Ala2268=) http://identifiers.org/clinvar/283528 ^@ NM_138694.3(PKHD1):c.4038C>T (p.Asn1346=) http://identifiers.org/clinvar/283529 ^@ NM_022436.2(ABCG5):c.80G>C (p.Gly27Ala) http://identifiers.org/clinvar/283530 ^@ NM_138694.3(PKHD1):c.4540G>C (p.Asp1514His) http://identifiers.org/clinvar/283531 ^@ NM_000026.3(ADSL):c.579G>C (p.Leu193=) http://identifiers.org/clinvar/283532 ^@ NM_000548.4(TSC2):c.893T>C (p.Phe298Ser) http://identifiers.org/clinvar/283533 ^@ NM_017780.3(CHD7):c.5973A>G (p.Gln1991=) http://identifiers.org/clinvar/283534 ^@ NM_001844.4(COL2A1):c.3574C>T (p.Arg1192Ter) http://identifiers.org/clinvar/283535 ^@ NM_014141.5(CNTNAP2):c.1455T>C (p.Asn485=) http://identifiers.org/clinvar/283536 ^@ NM_001042537.1(SLC9A6):c.1536C>T (p.Ser512=) http://identifiers.org/clinvar/283537 ^@ NM_014639.3(TTC37):c.860A>G (p.Lys287Arg) http://identifiers.org/clinvar/283538 ^@ NM_004737.5(LARGE1):c.1776G>T (p.Met592Ile) http://identifiers.org/clinvar/283539 ^@ NM_000426.3(LAMA2):c.9340G>A (p.Val3114Ile) http://identifiers.org/clinvar/283540 ^@ NM_000540.2(RYR1):c.1532C>A (p.Ala511Asp) http://identifiers.org/clinvar/283541 ^@ NM_014254.2(TMEM5):c.603C>T (p.Leu201=) http://identifiers.org/clinvar/283542 ^@ NM_000540.2(RYR1):c.9624G>T (p.Pro3208=) http://identifiers.org/clinvar/283543 ^@ NM_000540.2(RYR1):c.3175C>T (p.Pro1059Ser) http://identifiers.org/clinvar/283544 ^@ NM_080629.2(COL11A1):c.3204+1G>T http://identifiers.org/clinvar/283545 ^@ NM_001127464.2(ZNF469):c.946G>A (p.Glu316Lys) http://identifiers.org/clinvar/283546 ^@ NM_148898.3(FOXP2):c.1395A>G (p.Pro465=) http://identifiers.org/clinvar/283547 ^@ NM_001848.2(COL6A1):c.784C>T (p.Arg262Trp) http://identifiers.org/clinvar/283548 ^@ NM_213599.2(ANO5):c.2030-3C>A http://identifiers.org/clinvar/283549 ^@ NM_000445.4(PLEC):c.4215G>A (p.Ala1405=) http://identifiers.org/clinvar/283550 ^@ NM_001271208.1(NEB):c.6135T>C (p.Asp2045=) http://identifiers.org/clinvar/283551 ^@ NM_000540.2(RYR1):c.5488G>A (p.Val1830Ile) http://identifiers.org/clinvar/283552 ^@ NM_178138.5(LHX3):c.775+6C>T http://identifiers.org/clinvar/283553 ^@ NM_006662.2(SRCAP):c.4189A>G (p.Ile1397Val) http://identifiers.org/clinvar/283554 ^@ NM_005902.3(SMAD3):c.1092C>T (p.Tyr364=) http://identifiers.org/clinvar/283555 ^@ NM_000124.3(ERCC6):c.3634T>A (p.Cys1212Ser) http://identifiers.org/clinvar/283556 ^@ NM_022455.4(NSD1):c.4858G>A (p.Val1620Ile) http://identifiers.org/clinvar/283557 ^@ NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) http://identifiers.org/clinvar/283558 ^@ NM_133433.3(NIPBL):c.7418T>C (p.Val2473Ala) http://identifiers.org/clinvar/283559 ^@ NM_198270.3(NHS):c.827A>G (p.Glu276Gly) http://identifiers.org/clinvar/283560 ^@ NM_000425.4(L1CAM):c.2308G>A (p.Asp770Asn) http://identifiers.org/clinvar/283561 ^@ NM_002743.3(PRKCSH):c.416G>A (p.Arg139His) http://identifiers.org/clinvar/283562 ^@ NM_033071.3(SYNE1):c.18527_18528delTC (p.Leu6176Profs) http://identifiers.org/clinvar/283563 ^@ NM_003283.5(TNNT1):c.523C>T (p.Arg175Trp) http://identifiers.org/clinvar/283564 ^@ NM_004281.3(BAG3):c.605C>T (p.Pro202Leu) http://identifiers.org/clinvar/283565 ^@ NM_005592.3(MUSK):c.1230G>C (p.Trp410Cys) http://identifiers.org/clinvar/283566 ^@ NM_182914.2(SYNE2):c.3246A>C (p.Ala1082=) http://identifiers.org/clinvar/283567 ^@ NM_001844.4(COL2A1):c.708+8C>T http://identifiers.org/clinvar/283568 ^@ NM_022039.3(FBXW4):c.319C>T (p.Arg107Cys) http://identifiers.org/clinvar/283569 ^@ NM_014918.4(CHSY1):c.320+9C>T http://identifiers.org/clinvar/283570 ^@ NM_000168.5(GLI3):c.3829C>G (p.Gln1277Glu) http://identifiers.org/clinvar/283571 ^@ NM_022039.3(FBXW4):c.915C>T (p.Phe305=) http://identifiers.org/clinvar/283572 ^@ NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) http://identifiers.org/clinvar/283573 ^@ NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA http://identifiers.org/clinvar/283574 ^@ NM_001793.5(CDH3):c.2421T>G (p.Asp807Glu) http://identifiers.org/clinvar/283575 ^@ NM_022458.3(LMBR1):c.843G>A (p.Arg281=) http://identifiers.org/clinvar/283576 ^@ NM_020754.3(ARHGAP31):c.347C>T (p.Thr116Met) http://identifiers.org/clinvar/283577 ^@ NM_001793.5(CDH3):c.1500C>T (p.Thr500=) http://identifiers.org/clinvar/283578 ^@ NM_133433.3(NIPBL):c.1077A>G (p.Thr359=) http://identifiers.org/clinvar/283579 ^@ NM_080629.2(COL11A1):c.4034_4045delGTGACAAGGGTG (p.Gly1345_Gly1348del) http://identifiers.org/clinvar/283580 ^@ NM_001127464.2(ZNF469):c.1697C>T (p.Ala566Val) http://identifiers.org/clinvar/283581 ^@ NM_001127464.2(ZNF469):c.11194G>A (p.Glu3732Lys) http://identifiers.org/clinvar/283582 ^@ NM_003742.2(ABCB11):c.3435A>G (p.Lys1145=) http://identifiers.org/clinvar/283583 ^@ NM_003742.2(ABCB11):c.2985G>A (p.Ala995=) http://identifiers.org/clinvar/283584 ^@ NM_005603.4(ATP8B1):c.549T>C (p.Asp183=) http://identifiers.org/clinvar/283585 ^@ NM_002437.4(MPV17):c.239C>T (p.Thr80Ile) http://identifiers.org/clinvar/283586 ^@ NM_001165927.1(MKS1):c.219G>A (p.Lys73=) http://identifiers.org/clinvar/283587 ^@ NM_001360.2(DHCR7):c.139C>T (p.Leu47=) http://identifiers.org/clinvar/283588 ^@ NM_017929.5(PEX26):c.895dupT (p.Tyr299Leufs) http://identifiers.org/clinvar/283589 ^@ NM_080605.3(B3GALT6):c.834G>A (p.Thr278=) http://identifiers.org/clinvar/283590 ^@ NM_021625.4(TRPV4):c.1824+4C>T http://identifiers.org/clinvar/283591 ^@ NM_005220.2(DLX3):c.853G>A (p.Ala285Thr) http://identifiers.org/clinvar/283592 ^@ NM_000168.5(GLI3):c.2826G>T (p.Pro942=) http://identifiers.org/clinvar/283593 ^@ NM_020754.3(ARHGAP31):c.499G>A (p.Ala167Thr) http://identifiers.org/clinvar/283594 ^@ NM_153717.2(EVC):c.1102G>A (p.Ala368Thr) http://identifiers.org/clinvar/283595 ^@ NM_007317.2(KIF22):c.12C>T (p.Gly4=) http://identifiers.org/clinvar/283596 ^@ NM_024408.3(NOTCH2):c.1287T>C (p.His429=) http://identifiers.org/clinvar/283597 ^@ NM_080605.3(B3GALT6):c.853G>A (p.Asp285Asn) http://identifiers.org/clinvar/283598 ^@ NM_004273.4(CHST3):c.1347C>T (p.Arg449=) http://identifiers.org/clinvar/283599 ^@ NM_020436.4(SALL4):c.1358A>G (p.Asn453Ser) http://identifiers.org/clinvar/283600 ^@ NM_006019.3(TCIRG1):c.2397C>T (p.His799=) http://identifiers.org/clinvar/283601 ^@ NM_001006657.1(WDR35):c.1260A>G (p.Thr420=) http://identifiers.org/clinvar/283602 ^@ NM_002381.4(MATN3):c.62T>G (p.Leu21Arg) http://identifiers.org/clinvar/283603 ^@ NM_006019.3(TCIRG1):c.528C>A (p.Pro176=) http://identifiers.org/clinvar/283604 ^@ NM_007317.2(KIF22):c.1619A>T (p.Gln540Leu) http://identifiers.org/clinvar/283605 ^@ NM_015311.2(OBSL1):c.423G>A (p.Arg141=) http://identifiers.org/clinvar/283606 ^@ NM_000088.3(COL1A1):c.1615-4C>A http://identifiers.org/clinvar/283607 ^@ NM_001844.4(COL2A1):c.3003+9G>A http://identifiers.org/clinvar/283608 ^@ NM_007255.2(B4GALT7):c.413+6G>A http://identifiers.org/clinvar/283609 ^@ NM_024408.3(NOTCH2):c.3759G>A (p.Leu1253=) http://identifiers.org/clinvar/283610 ^@ NM_024408.3(NOTCH2):c.1541A>G (p.Asn514Ser) http://identifiers.org/clinvar/283611 ^@ NM_012254.2(SLC27A5):c.1710G>A (p.Val570=) http://identifiers.org/clinvar/283612 ^@ NM_024408.3(NOTCH2):c.6159C>T (p.Arg2053=) http://identifiers.org/clinvar/283613 ^@ NM_015074.3(KIF1B):c.2941C>T (p.Arg981Ter) http://identifiers.org/clinvar/283614 ^@ NM_144573.3(NEXN):c.1609_1610insA (p.Leu537Tyrfs) http://identifiers.org/clinvar/283615 ^@ NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) http://identifiers.org/clinvar/283616 ^@ NM_000053.3(ATP7B):c.2806T>G (p.Leu936Val) http://identifiers.org/clinvar/283617 ^@ NM_003413.3(ZIC3):c.1025delC (p.Ser342Leufs) http://identifiers.org/clinvar/283618 ^@ NM_033071.3(SYNE1):c.22700G>A (p.Gly7567Asp) http://identifiers.org/clinvar/283619 ^@ NM_182914.2(SYNE2):c.9315A>C (p.Leu3105Phe) http://identifiers.org/clinvar/283620 ^@ NM_182914.2(SYNE2):c.11023-5C>G http://identifiers.org/clinvar/283621 ^@ NM_182914.2(SYNE2):c.8041G>A (p.Val2681Ile) http://identifiers.org/clinvar/283622 ^@ NM_001079802.1(FKTN):c.456_457delAC (p.Ser154Trpfs) http://identifiers.org/clinvar/283623 ^@ NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) http://identifiers.org/clinvar/283624 ^@ NM_001130987.1(DYSF):c.4355C>T (p.Ser1452Leu) http://identifiers.org/clinvar/283625 ^@ NM_004369.3(COL6A3):c.3475G>C (p.Gly1159Arg) http://identifiers.org/clinvar/283626 ^@ NM_001267550.2(TTN):c.60176G>A (p.Gly20059Asp) http://identifiers.org/clinvar/283627 ^@ NM_182961.3(SYNE1):c.24642+3A>G http://identifiers.org/clinvar/283628 ^@ NM_033071.3(SYNE1):c.12581G>A (p.Arg4194Lys) http://identifiers.org/clinvar/283629 ^@ NM_001267550.2(TTN):c.44790G>A (p.Lys14930=) http://identifiers.org/clinvar/283630 ^@ NM_201382.3(PLEC):c.13068C>T (p.Phe4356=) http://identifiers.org/clinvar/283631 ^@ NM_133378.4(TTN):c.86236G>A (p.Gly28746Ser) http://identifiers.org/clinvar/283632 ^@ NM_001267550.2(TTN):c.103113T>C (p.Asn34371=) http://identifiers.org/clinvar/283633 ^@ NM_001079802.1(FKTN):c.699G>C (p.Lys233Asn) http://identifiers.org/clinvar/283634 ^@ NM_001267550.2(TTN):c.14156T>G (p.Phe4719Cys) http://identifiers.org/clinvar/283635 ^@ NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) http://identifiers.org/clinvar/283636 ^@ NM_000152.4(GAA):c.25T>C (p.Ser9Pro) http://identifiers.org/clinvar/283637 ^@ NM_000070.2(CAPN3):c.442G>C (p.Val148Leu) http://identifiers.org/clinvar/283638 ^@ NM_201382.3(PLEC):c.10072G>A (p.Ala3358Thr) http://identifiers.org/clinvar/283639 ^@ NM_182914.2(SYNE2):c.14723C>A (p.Ser4908Tyr) http://identifiers.org/clinvar/283640 ^@ NM_201383.2(PLEC):c.8517C>T (p.Phe2839=) http://identifiers.org/clinvar/283641 ^@ NM_033337.2(CAV3):c.92A>T (p.Asn31Ile) http://identifiers.org/clinvar/283642 ^@ NM_033071.3(SYNE1):c.24421C>T (p.Arg8141Cys) http://identifiers.org/clinvar/283643 ^@ NM_004369.3(COL6A3):c.1623C>T (p.Ala541=) http://identifiers.org/clinvar/283644 ^@ NM_201380.3(PLEC):c.5476C>T (p.Leu1826=) http://identifiers.org/clinvar/283645 ^@ NM_201381.2(PLEC):c.6682G>A (p.Asp2228Asn) http://identifiers.org/clinvar/283646 ^@ NM_033071.3(SYNE1):c.26211C>T (p.His8737=) http://identifiers.org/clinvar/283647 ^@ NC_000008.10:g.144996455_144996520del56 http://identifiers.org/clinvar/283648 ^@ NM_000445.4(PLEC):c.6179C>T (p.Ala2060Val) http://identifiers.org/clinvar/283649 ^@ NM_001267550.2(TTN):c.78481T>C (p.Phe26161Leu) http://identifiers.org/clinvar/283650 ^@ NM_001101426.3(ISPD):c.822A>T (p.Glu274Asp) http://identifiers.org/clinvar/283651 ^@ NM_138694.3(PKHD1):c.8190delT (p.Glu2731Asnfs) http://identifiers.org/clinvar/283652 ^@ NM_138694.3(PKHD1):c.5372C>T (p.Pro1791Leu) http://identifiers.org/clinvar/283653 ^@ NM_001267550.2(TTN):c.100693G>C (p.Ala33565Pro) http://identifiers.org/clinvar/283654 ^@ NM_001267550.2(TTN):c.98151G>A (p.Arg32717=) http://identifiers.org/clinvar/283655 ^@ NM_201382.3(PLEC):c.9692G>C (p.Arg3231Pro) http://identifiers.org/clinvar/283656 ^@ NM_004369.3(COL6A3):c.5525G>A (p.Gly1842Glu) http://identifiers.org/clinvar/283657 ^@ NM_201381.2(PLEC):c.9732G>A (p.Thr3244=) http://identifiers.org/clinvar/283658 ^@ NM_001849.3(COL6A2):c.2806G>A (p.Ala936Thr) http://identifiers.org/clinvar/283659 ^@ NM_013382.5(POMT2):c.1407G>T (p.Val469=) http://identifiers.org/clinvar/283660 ^@ NM_001267550.2(TTN):c.12823C>T (p.Leu4275Phe) http://identifiers.org/clinvar/283661 ^@ NM_033071.3(SYNE1):c.4498A>G (p.Ile1500Val) http://identifiers.org/clinvar/283662 ^@ NM_000445.4(PLEC):c.1905C>T (p.Ser635=) http://identifiers.org/clinvar/283663 ^@ NM_015295.2(SMCHD1):c.5155A>G (p.Ser1719Gly) http://identifiers.org/clinvar/283664 ^@ NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) http://identifiers.org/clinvar/283665 ^@ NM_182961.3(SYNE1):c.8780G>A (p.Arg2927His) http://identifiers.org/clinvar/283666 ^@ NM_033071.3(SYNE1):c.4744C>T (p.Leu1582Phe) http://identifiers.org/clinvar/283667 ^@ NM_001130987.1(DYSF):c.682dupC (p.His228Profs) http://identifiers.org/clinvar/283668 ^@ NM_182914.2(SYNE2):c.18264C>T (p.Asp6088=) http://identifiers.org/clinvar/283669 ^@ NM_182914.2(SYNE2):c.15810C>T (p.Thr5270=) http://identifiers.org/clinvar/283670 ^@ NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter) http://identifiers.org/clinvar/283671 ^@ NM_015295.2(SMCHD1):c.55G>C (p.Asp19His) http://identifiers.org/clinvar/283672 ^@ NM_001243766.1(POMGNT1):c.1111-6T>C http://identifiers.org/clinvar/283673 ^@ NM_015295.2(SMCHD1):c.4008-7_4008-3delTTGTT http://identifiers.org/clinvar/283674 ^@ NM_033071.3(SYNE1):c.8994G>A (p.Thr2998=) http://identifiers.org/clinvar/283675 ^@ NM_000445.4(PLEC):c.1640C>T (p.Ser547Phe) http://identifiers.org/clinvar/283676 ^@ NM_033071.3(SYNE1):c.7479A>G (p.Gln2493=) http://identifiers.org/clinvar/283677 ^@ NM_182961.3(SYNE1):c.4377C>T (p.Ser1459=) http://identifiers.org/clinvar/283678 ^@ NM_000070.2(CAPN3):c.1746-7C>G http://identifiers.org/clinvar/283679 ^@ NM_006790.2(MYOT):c.588T>C (p.Ala196=) http://identifiers.org/clinvar/283680 ^@ NM_201384.2(PLEC):c.12438C>T (p.Pro4146=) http://identifiers.org/clinvar/283681 ^@ NM_201380.3(PLEC):c.12178A>G (p.Lys4060Glu) http://identifiers.org/clinvar/283682 ^@ NM_004369.3(COL6A3):c.8458G>A (p.Val2820Ile) http://identifiers.org/clinvar/283683 ^@ NM_033071.3(SYNE1):c.4964C>T (p.Thr1655Met) http://identifiers.org/clinvar/283684 ^@ NM_058246.3(DNAJB6):c.63G>A (p.Lys21=) http://identifiers.org/clinvar/283685 ^@ NM_001267550.2(TTN):c.45082+6delA http://identifiers.org/clinvar/283686 ^@ NM_033071.3(SYNE1):c.15969T>G (p.Ser5323=) http://identifiers.org/clinvar/283687 ^@ NM_000445.4(PLEC):c.8590G>A (p.Glu2864Lys) http://identifiers.org/clinvar/283688 ^@ NM_001267550.2(TTN):c.44017C>G (p.Arg14673Gly) http://identifiers.org/clinvar/283689 ^@ NM_001849.3(COL6A2):c.2798G>A (p.Arg933His) http://identifiers.org/clinvar/283690 ^@ NM_001848.2(COL6A1):c.914G>A (p.Gly305Glu) http://identifiers.org/clinvar/283691 ^@ NM_000070.2(CAPN3):c.1251G>A (p.Thr417=) http://identifiers.org/clinvar/283692 ^@ NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) http://identifiers.org/clinvar/283693 ^@ NM_033071.3(SYNE1):c.11082A>G (p.Glu3694=) http://identifiers.org/clinvar/283694 ^@ NM_201382.3(PLEC):c.3045G>T (p.Pro1015=) http://identifiers.org/clinvar/283695 ^@ NM_000445.4(PLEC):c.4550G>A (p.Arg1517Gln) http://identifiers.org/clinvar/283696 ^@ NM_004369.3(COL6A3):c.1263C>T (p.Gly421=) http://identifiers.org/clinvar/283697 ^@ NM_033071.3(SYNE1):c.8114A>G (p.Glu2705Gly) http://identifiers.org/clinvar/283698 ^@ NM_033071.3(SYNE1):c.11310G>A (p.Arg3770=) http://identifiers.org/clinvar/283699 ^@ NM_033071.3(SYNE1):c.6833C>T (p.Pro2278Leu) http://identifiers.org/clinvar/283700 ^@ NM_001849.3(COL6A2):c.1771-9G>T http://identifiers.org/clinvar/283701 ^@ NM_001849.3(COL6A2):c.1771-8C>T http://identifiers.org/clinvar/283702 ^@ NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) http://identifiers.org/clinvar/283703 ^@ NM_182914.2(SYNE2):c.20203G>A (p.Glu6735Lys) http://identifiers.org/clinvar/283704 ^@ NM_182914.2(SYNE2):c.11539G>A (p.Asp3847Asn) http://identifiers.org/clinvar/283705 ^@ NM_201382.3(PLEC):c.343-6T>G http://identifiers.org/clinvar/283706 ^@ NM_058246.3(DNAJB6):c.235+9G>T http://identifiers.org/clinvar/283707 ^@ NM_000231.2(SGCG):c.195+1G>C http://identifiers.org/clinvar/283708 ^@ NM_033071.3(SYNE1):c.20079T>C (p.Asp6693=) http://identifiers.org/clinvar/283709 ^@ NM_033071.3(SYNE1):c.21201C>T (p.Ala7067=) http://identifiers.org/clinvar/283710 ^@ NM_001848.2(COL6A1):c.2285T>C (p.Phe762Ser) http://identifiers.org/clinvar/283711 ^@ NM_004369.3(COL6A3):c.8073C>A (p.Asp2691Glu) http://identifiers.org/clinvar/283712 ^@ NM_001849.3(COL6A2):c.284G>A (p.Arg95His) http://identifiers.org/clinvar/283713 ^@ NM_004006.2(DMD):c.10279C>T (p.Gln3427Ter) http://identifiers.org/clinvar/283714 ^@ NM_133378.4(TTN):c.53992G>A (p.Val17998Ile) http://identifiers.org/clinvar/283715 ^@ NM_201382.3(PLEC):c.366T>C (p.Asn122=) http://identifiers.org/clinvar/283716 ^@ NM_000023.3(SGCA):c.385G>A (p.Gly129Ser) http://identifiers.org/clinvar/283717 ^@ NM_133379.4(TTN):c.7862C>T (p.Ala2621Val) http://identifiers.org/clinvar/283718 ^@ NM_033071.3(SYNE1):c.5587G>A (p.Ala1863Thr) http://identifiers.org/clinvar/283719 ^@ NM_182914.2(SYNE2):c.16730G>A (p.Arg5577Gln) http://identifiers.org/clinvar/283720 ^@ NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=) http://identifiers.org/clinvar/283721 ^@ NM_001267550.2(TTN):c.87081A>G (p.Arg29027=) http://identifiers.org/clinvar/283722 ^@ NM_001849.3(COL6A2):c.2593_2608dup16 (p.Asp870Alafs) http://identifiers.org/clinvar/283723 ^@ NM_182914.2(SYNE2):c.9745-9A>G http://identifiers.org/clinvar/283724 ^@ NM_001256850.1(TTN):c.96339A>G (p.Gly32113=) http://identifiers.org/clinvar/283725 ^@ NM_004006.2(DMD):c.7288G>C (p.Gly2430Arg) http://identifiers.org/clinvar/283726 ^@ NM_000260.3(MYO7A):c.2208G>A (p.Leu736=) http://identifiers.org/clinvar/283727 ^@ NM_004387.3(NKX2-5):c.769C>A (p.Pro257Thr) http://identifiers.org/clinvar/283728 ^@ NM_001199397.1(NEK1):c.3213C>T (p.Asn1071=) http://identifiers.org/clinvar/283729 ^@ NM_032322.3(RNF135):c.901delC (p.Gln301Argfs) http://identifiers.org/clinvar/283730 ^@ NM_001135659.2(NRXN1):c.1406C>T (p.Pro469Leu) http://identifiers.org/clinvar/283731 ^@ NM_031407.6(HUWE1):c.8558A>T (p.Glu2853Val) http://identifiers.org/clinvar/283733 ^@ NM_000382.2(ALDH3A2):c.1270C>T (p.Pro424Ser) http://identifiers.org/clinvar/283734 ^@ NM_001875.4(CPS1):c.487G>T (p.Gly163Ter) http://identifiers.org/clinvar/283735 ^@ NM_172107.3(KCNQ2):c.463C>T (p.Arg155Cys) http://identifiers.org/clinvar/283736 ^@ NM_024006.5(VKORC1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/283737 ^@ NM_175607.2(CNTN4):c.532A>G (p.Asn178Asp) http://identifiers.org/clinvar/283738 ^@ NM_172107.3(KCNQ2):c.1888-3C>T http://identifiers.org/clinvar/283739 ^@ NM_052985.3(IFT122):c.3640T>A (p.Phe1214Ile) http://identifiers.org/clinvar/283740 ^@ NM_000445.4(PLEC):c.12298G>A (p.Asp4100Asn) http://identifiers.org/clinvar/283741 ^@ NM_182914.2(SYNE2):c.19823A>T (p.Asp6608Val) http://identifiers.org/clinvar/283742 ^@ NM_001267550.2(TTN):c.72174T>C (p.Pro24058=) http://identifiers.org/clinvar/283743 ^@ NM_058246.3(DNAJB6):c.962C>T (p.Ser321Leu) http://identifiers.org/clinvar/283744 ^@ NM_201381.2(PLEC):c.7887C>T (p.Ala2629=) http://identifiers.org/clinvar/283745 ^@ NM_001848.2(COL6A1):c.2986G>A (p.Val996Met) http://identifiers.org/clinvar/283746 ^@ NM_213599.2(ANO5):c.185A>G (p.Gln62Arg) http://identifiers.org/clinvar/283747 ^@ NM_001849.3(COL6A2):c.2984_2986delCCG (p.Ala995del) http://identifiers.org/clinvar/283748 ^@ NM_213599.2(ANO5):c.1438_1439insGTG (p.Ala479_Val480insGly) http://identifiers.org/clinvar/283749 ^@ NM_015295.2(SMCHD1):c.1390G>T (p.Ala464Ser) http://identifiers.org/clinvar/283750 ^@ NM_000152.4(GAA):c.2474C>G (p.Pro825Arg) http://identifiers.org/clinvar/283751 ^@ NM_033071.3(SYNE1):c.22133+6G>T http://identifiers.org/clinvar/283752 ^@ NM_001079802.1(FKTN):c.402A>T (p.Gly134=) http://identifiers.org/clinvar/283753 ^@ NM_004369.3(COL6A3):c.8978G>A (p.Arg2993His) http://identifiers.org/clinvar/283754 ^@ NM_033071.3(SYNE1):c.6669C>T (p.Cys2223=) http://identifiers.org/clinvar/283755 ^@ NM_000070.2(CAPN3):c.379+5G>T http://identifiers.org/clinvar/283756 ^@ NM_201382.3(PLEC):c.11697C>T (p.Arg3899=) http://identifiers.org/clinvar/283757 ^@ NM_001848.2(COL6A1):c.666C>T (p.Arg222=) http://identifiers.org/clinvar/283758 ^@ NM_001849.3(COL6A2):c.901G>A (p.Gly301Ser) http://identifiers.org/clinvar/283759 ^@ NM_006731.2(FKTN):c.437G>A (p.Arg146Gln) http://identifiers.org/clinvar/283760 ^@ NM_015295.2(SMCHD1):c.4808C>T (p.Thr1603Ile) http://identifiers.org/clinvar/283761 ^@ NM_017739.3(POMGNT1):c.1911C>T (p.Pro637=) http://identifiers.org/clinvar/283762 ^@ NM_001848.2(COL6A1):c.763G>A (p.Ala255Thr) http://identifiers.org/clinvar/283763 ^@ NM_201384.2(PLEC):c.4363C>T (p.Arg1455Cys) http://identifiers.org/clinvar/283764 ^@ NM_182961.3(SYNE1):c.3943C>T (p.Arg1315Trp) http://identifiers.org/clinvar/283765 ^@ NM_024301.4(FKRP):c.1054C>T (p.Arg352Cys) http://identifiers.org/clinvar/283766 ^@ NM_000152.4(GAA):c.858+4C>G http://identifiers.org/clinvar/283767 ^@ NM_000445.4(PLEC):c.12799G>A (p.Ala4267Thr) http://identifiers.org/clinvar/283768 ^@ NM_001135659.2(NRXN1):c.2369G>A (p.Arg790His) http://identifiers.org/clinvar/283769 ^@ NM_000414.3(HSD17B4):c.948A>G (p.Ala316=) http://identifiers.org/clinvar/283770 ^@ NM_000709.3(BCKDHA):c.1211A>G (p.Asn404Ser) http://identifiers.org/clinvar/283771 ^@ NM_000017.3(ACADS):c.147C>G (p.Ala49=) http://identifiers.org/clinvar/283772 ^@ NM_018941.3(CLN8):c.256C>T (p.Leu86=) http://identifiers.org/clinvar/283773 ^@ NM_000227.4(LAMA3):c.4526G>A (p.Ser1509Asn) http://identifiers.org/clinvar/283774 ^@ NM_001031847.2(CPT1A):c.1092G>A (p.Gln364=) http://identifiers.org/clinvar/283775 ^@ NM_000492.3(CFTR):c.3139G>T (p.Gly1047Cys) http://identifiers.org/clinvar/283776 ^@ NM_017890.4(VPS13B):c.11959C>G (p.Pro3987Ala) http://identifiers.org/clinvar/283777 ^@ NM_172250.2(MMAA):c.494A>G (p.Lys165Arg) http://identifiers.org/clinvar/283778 ^@ NM_000019.3(ACAT1):c.*6dupC http://identifiers.org/clinvar/283779 ^@ NM_014363.5(SACS):c.4188C>T (p.His1396=) http://identifiers.org/clinvar/283780 ^@ NM_001271208.1(NEB):c.11077-4G>T http://identifiers.org/clinvar/283781 ^@ NM_001257344.1(BCS1L):c.209A>G (p.His70Arg) http://identifiers.org/clinvar/283782 ^@ NM_014363.5(SACS):c.6267G>A (p.Ser2089=) http://identifiers.org/clinvar/283783 ^@ NM_000390.3(CHM):c.1488G>A (p.Thr496=) http://identifiers.org/clinvar/283784 ^@ NM_022336.3(EDAR):c.960C>T (p.Ala320=) http://identifiers.org/clinvar/283785 ^@ NM_019066.4(MAGEL2):c.639A>C (p.Pro213=) http://identifiers.org/clinvar/283786 ^@ NM_018136.4(ASPM):c.2060A>G (p.Lys687Arg) http://identifiers.org/clinvar/283787 ^@ NM_014141.5(CNTNAP2):c.1140T>A (p.Ala380=) http://identifiers.org/clinvar/283788 ^@ NM_001182.4(ALDH7A1):c.1066C>G (p.Gln356Glu) http://identifiers.org/clinvar/283789 ^@ NM_001083961.1(WDR62):c.4338C>T (p.Thr1446=) http://identifiers.org/clinvar/283790 ^@ NM_032119.3(ADGRV1):c.8842G>A (p.Ala2948Thr) http://identifiers.org/clinvar/283791 ^@ NM_017882.2(CLN6):c.62G>T (p.Gly21Val) http://identifiers.org/clinvar/283792 ^@ NM_014141.5(CNTNAP2):c.2023A>G (p.Ile675Val) http://identifiers.org/clinvar/283793 ^@ NM_005902.3(SMAD3):c.-1C>T http://identifiers.org/clinvar/283794 ^@ NM_001278074.1(COL5A1):c.1752G>A (p.Glu584=) http://identifiers.org/clinvar/283795 ^@ NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) http://identifiers.org/clinvar/283796 ^@ NM_001271620.2(ZNF423):c.3189C>T (p.Pro1063=) http://identifiers.org/clinvar/283797 ^@ NM_001006657.1(WDR35):c.3154+3G>A http://identifiers.org/clinvar/283798 ^@ NM_001277115.1(DNAH11):c.9706C>T (p.Arg3236Ter) http://identifiers.org/clinvar/283799 ^@ NM_000274.3(OAT):c.352A>T (p.Asn118Tyr) http://identifiers.org/clinvar/283800 ^@ NM_014014.4(SNRNP200):c.3354C>T (p.Ile1118=) http://identifiers.org/clinvar/283801 ^@ NM_207361.5(FREM2):c.9038C>T (p.Thr3013Met) http://identifiers.org/clinvar/283802 ^@ NM_015120.4(ALMS1):c.6202C>G (p.Gln2068Glu) http://identifiers.org/clinvar/283803 ^@ NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) http://identifiers.org/clinvar/283804 ^@ NM_001077182.2(FSCN2):c.357C>T (p.Ser119=) http://identifiers.org/clinvar/283805 ^@ NM_001135599.3(TGFB2):c.346+5G>A http://identifiers.org/clinvar/283806 ^@ NM_025074.6(FRAS1):c.6530T>C (p.Val2177Ala) http://identifiers.org/clinvar/283807 ^@ NM_005029.3(PITX3):c.42T>C (p.Pro14=) http://identifiers.org/clinvar/283808 ^@ NM_005529.6(HSPG2):c.204C>A (p.Asp68Glu) http://identifiers.org/clinvar/283809 ^@ NM_005529.6(HSPG2):c.6011G>A (p.Arg2004His) http://identifiers.org/clinvar/283810 ^@ NM_003392.4(WNT5A):c.141-8C>T http://identifiers.org/clinvar/283811 ^@ NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) http://identifiers.org/clinvar/283812 ^@ NM_022436.2(ABCG5):c.696C>T (p.Val232=) http://identifiers.org/clinvar/283813 ^@ NM_000319.4(PEX5):c.590C>T (p.Thr197Met) http://identifiers.org/clinvar/283814 ^@ NM_015102.4(NPHP4):c.2051A>G (p.Gln684Arg) http://identifiers.org/clinvar/283815 ^@ NM_018006.4(TRMU):c.289C>T (p.Pro97Ser) http://identifiers.org/clinvar/283816 ^@ NM_000392.4(ABCC2):c.3973G>A (p.Gly1325Ser) http://identifiers.org/clinvar/283817 ^@ NM_000326.4(RLBP1):c.346+3_346+8delGAGGCC http://identifiers.org/clinvar/283818 ^@ NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) http://identifiers.org/clinvar/283819 ^@ NM_019098.4(CNGB3):c.670C>T (p.Leu224Phe) http://identifiers.org/clinvar/283820 ^@ NM_000310.3(PPT1):c.795A>G (p.Thr265=) http://identifiers.org/clinvar/283821 ^@ NM_001112704.1(VAX1):c.804G>C (p.Ala268=) http://identifiers.org/clinvar/283822 ^@ NM_015272.4(RPGRIP1L):c.3616+7A>G http://identifiers.org/clinvar/283823 ^@ NM_000260.3(MYO7A):c.5688G>A (p.Gln1896=) http://identifiers.org/clinvar/283824 ^@ NM_019098.4(CNGB3):c.1833C>T (p.His611=) http://identifiers.org/clinvar/283825 ^@ NM_004698.2(PRPF3):c.1426G>A (p.Val476Met) http://identifiers.org/clinvar/283826 ^@ NM_182894.2(VSX2):c.650C>T (p.Ala217Val) http://identifiers.org/clinvar/283827 ^@ NM_001851.4(COL9A1):c.1182_1190delCCCCCCAGG (p.Pro396_Pro398del) http://identifiers.org/clinvar/283828 ^@ NM_002381.4(MATN3):c.1171C>T (p.Arg391Cys) http://identifiers.org/clinvar/283829 ^@ NM_006031.5(PCNT):c.6261G>A (p.Gln2087=) http://identifiers.org/clinvar/283830 ^@ NM_003392.4(WNT5A):c.839G>A (p.Ser280Asn) http://identifiers.org/clinvar/283831 ^@ NM_002098.5(GUCA1B):c.187C>T (p.Arg63Ter) http://identifiers.org/clinvar/283832 ^@ NM_001039348.2(EFEMP1):c.146A>C (p.Asp49Ala) http://identifiers.org/clinvar/283833 ^@ NM_001277313.1(FMN1):c.3110C>T (p.Thr1037Ile) http://identifiers.org/clinvar/283834 ^@ NM_002335.3(LRP5):c.2951A>G (p.Tyr984Cys) http://identifiers.org/clinvar/283835 ^@ NM_015170.2(SULF1):c.370C>T (p.Arg124Trp) http://identifiers.org/clinvar/283836 ^@ NM_013227.3(ACAN):c.4523A>C (p.Glu1508Ala) http://identifiers.org/clinvar/283837 ^@ NM_000451.3(SHOX):c.723C>T (p.Phe241=) http://identifiers.org/clinvar/283838 ^@ NM_017653.3(DYM):c.1552C>T (p.Leu518=) http://identifiers.org/clinvar/283839 ^@ NM_001166253.1(TBXAS1):c.1661A>T (p.Glu554Val) http://identifiers.org/clinvar/283840 ^@ NM_020754.3(ARHGAP31):c.936T>C (p.Arg312=) http://identifiers.org/clinvar/283841 ^@ NM_015311.2(OBSL1):c.1775T>A (p.Ile592Asn) http://identifiers.org/clinvar/283842 ^@ NM_014028.3(OSTM1):c.207G>T (p.Gly69=) http://identifiers.org/clinvar/283843 ^@ NM_024408.3(NOTCH2):c.4897G>A (p.Val1633Ile) http://identifiers.org/clinvar/283845 ^@ NM_001130438.2(SPTAN1):c.5358-8_5358-7delTC http://identifiers.org/clinvar/283846 ^@ NM_198859.3(PRICKLE2):c.2356A>C (p.Asn786His) http://identifiers.org/clinvar/283847 ^@ NM_001083961.1(WDR62):c.3162G>A (p.Pro1054=) http://identifiers.org/clinvar/283848 ^@ NM_003688.3(CASK):c.1669-9C>A http://identifiers.org/clinvar/283849 ^@ NM_006059.3(LAMC3):c.4068G>A (p.Ala1356=) http://identifiers.org/clinvar/283850 ^@ NM_006059.3(LAMC3):c.3624G>A (p.Glu1208=) http://identifiers.org/clinvar/283851 ^@ NM_001457.3(FLNB):c.4872C>T (p.Ile1624=) http://identifiers.org/clinvar/283852 ^@ NM_022458.3(LMBR1):c.528C>G (p.Ala176=) http://identifiers.org/clinvar/283853 ^@ NM_005529.6(HSPG2):c.2558+10A>G http://identifiers.org/clinvar/283854 ^@ NM_013227.3(ACAN):c.7410C>T (p.Ser2470=) http://identifiers.org/clinvar/283855 ^@ NM_020436.4(SALL4):c.-7T>G http://identifiers.org/clinvar/283856 ^@ NM_206933.2(USH2A):c.14175G>A (p.Trp4725Ter) http://identifiers.org/clinvar/283857 ^@ NM_032119.3(ADGRV1):c.1480G>C (p.Gly494Arg) http://identifiers.org/clinvar/283858 ^@ NM_003159.2(CDKL5):c.2797+12G>T http://identifiers.org/clinvar/283859 ^@ NM_002334.3(LRP4):c.52+9C>A http://identifiers.org/clinvar/283860 ^@ NM_022455.4(NSD1):c.6440dupT (p.Asn2148Glnfs) http://identifiers.org/clinvar/283861 ^@ NM_000466.2(PEX1):c.934A>G (p.Ile312Val) http://identifiers.org/clinvar/283862 ^@ NM_153818.1(PEX10):c.956C>T (p.Ala319Val) http://identifiers.org/clinvar/283863 ^@ NM_030662.3(MAP2K2):c.904G>C (p.Gly302Arg) http://identifiers.org/clinvar/283864 ^@ NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) http://identifiers.org/clinvar/283865 ^@ NM_139125.3(MASP1):c.731A>G (p.Tyr244Cys) http://identifiers.org/clinvar/283866 ^@ NM_000260.3(MYO7A):c.4441+8G>A http://identifiers.org/clinvar/283867 ^@ NM_004817.3(TJP2):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/283868 ^@ NM_194248.2(OTOF):c.843C>T (p.Asp281=) http://identifiers.org/clinvar/283869 ^@ NM_000414.3(HSD17B4):c.301G>C (p.Gly101Arg) http://identifiers.org/clinvar/283870 ^@ NM_194248.2(OTOF):c.224A>G (p.Asn75Ser) http://identifiers.org/clinvar/283871 ^@ NM_206933.2(USH2A):c.15306C>T (p.Ala5102=) http://identifiers.org/clinvar/283872 ^@ NM_000540.2(RYR1):c.2160C>G (p.Leu720=) http://identifiers.org/clinvar/283873 ^@ NM_015346.3(ZFYVE26):c.879G>A (p.Ser293=) http://identifiers.org/clinvar/283874 ^@ NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) http://identifiers.org/clinvar/283875 ^@ NM_000426.3(LAMA2):c.6444G>A (p.Val2148=) http://identifiers.org/clinvar/283876 ^@ NM_000080.3(CHRNE):c.1080C>G (p.Pro360=) http://identifiers.org/clinvar/283877 ^@ NM_000445.4(PLEC):c.6177G>C (p.Ser2059=) http://identifiers.org/clinvar/283878 ^@ NM_002206.2(ITGA7):c.1854C>T (p.Leu618=) http://identifiers.org/clinvar/283879 ^@ NM_001178007.1(BBS12):c.1849A>G (p.Thr617Ala) http://identifiers.org/clinvar/283880 ^@ NM_138694.3(PKHD1):c.9186T>C (p.Asn3062=) http://identifiers.org/clinvar/283881 ^@ NM_025132.3(WDR19):c.2095C>T (p.Arg699Trp) http://identifiers.org/clinvar/283882 ^@ NM_031885.3(BBS2):c.1380C>T (p.Phe460=) http://identifiers.org/clinvar/283883 ^@ NM_024649.4(BBS1):c.726G>A (p.Met242Ile) http://identifiers.org/clinvar/283884 ^@ NM_024685.3(BBS10):c.197+1G>T http://identifiers.org/clinvar/283885 ^@ NM_006920.4(SCN1A):c.1678C>T (p.Arg560Cys) http://identifiers.org/clinvar/283886 ^@ NM_002025.3(AFF2):c.1858A>G (p.Thr620Ala) http://identifiers.org/clinvar/283887 ^@ NM_030665.3(RAI1):c.849G>A (p.Gln283=) http://identifiers.org/clinvar/283888 ^@ NM_133433.3(NIPBL):c.4907G>T (p.Arg1636Leu) http://identifiers.org/clinvar/283889 ^@ NM_152564.4(VPS13B):c.8779_8781delAAG (p.Lys2927del) http://identifiers.org/clinvar/283890 ^@ NM_000231.2(SGCG):c.1-8C>T http://identifiers.org/clinvar/283891 ^@ NM_004369.3(COL6A3):c.1228G>A (p.Asp410Asn) http://identifiers.org/clinvar/283892 ^@ NM_001267550.2(TTN):c.13090G>C (p.Val4364Leu) http://identifiers.org/clinvar/283893 ^@ NM_002206.2(ITGA7):c.708C>A (p.Pro236=) http://identifiers.org/clinvar/283894 ^@ NM_000152.4(GAA):c.841C>T (p.Arg281Trp) http://identifiers.org/clinvar/283895 ^@ NM_001035.2(RYR2):c.13665C>T (p.Ile4555=) http://identifiers.org/clinvar/283896 ^@ NM_014927.4(CNKSR2):c.1458A>G (p.Arg486=) http://identifiers.org/clinvar/283897 ^@ NM_017950.3(CCDC40):c.2911G>A (p.Val971Ile) http://identifiers.org/clinvar/283898 ^@ NM_001277115.1(DNAH11):c.6546G>C (p.Lys2182Asn) http://identifiers.org/clinvar/283899 ^@ NM_206933.2(USH2A):c.1840+4A>G http://identifiers.org/clinvar/283901 ^@ NM_025114.3(CEP290):c.7062_7063delGA (p.Lys2355Serfs) http://identifiers.org/clinvar/283902 ^@ NM_001277115.1(DNAH11):c.10221_10222delCT (p.Cys3408Trpfs) http://identifiers.org/clinvar/283903 ^@ NM_001080522.2(CC2D2A):c.1598T>C (p.Val533Ala) http://identifiers.org/clinvar/283904 ^@ NM_003482.3(KMT2D):c.3641G>A (p.Gly1214Asp) http://identifiers.org/clinvar/283905 ^@ NM_000082.3(ERCC8):c.152T>C (p.Ile51Thr) http://identifiers.org/clinvar/283906 ^@ NM_020366.3(RPGRIP1):c.3505G>C (p.Glu1169Gln) http://identifiers.org/clinvar/283908 ^@ NM_183059.2(RD3):c.168C>T (p.Thr56=) http://identifiers.org/clinvar/283909 ^@ NM_144966.5(FREM1):c.6021C>G (p.Pro2007=) http://identifiers.org/clinvar/283910 ^@ NM_194318.3(B3GLCT):c.1104C>T (p.Ser368=) http://identifiers.org/clinvar/283911 ^@ NM_001242957.2(MAK):c.492-4A>G http://identifiers.org/clinvar/283912 ^@ NM_000541.4(SAG):c.474A>G (p.Thr158=) http://identifiers.org/clinvar/283913 ^@ NM_004385.4(VCAN):c.1864T>C (p.Trp622Arg) http://identifiers.org/clinvar/283914 ^@ NM_024887.3(DHDDS):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/283915 ^@ NM_207361.5(FREM2):c.2801G>A (p.Arg934Gln) http://identifiers.org/clinvar/283916 ^@ NM_025074.6(FRAS1):c.11306A>G (p.Asn3769Ser) http://identifiers.org/clinvar/283917 ^@ NM_183059.2(RD3):c.498C>T (p.Ile166=) http://identifiers.org/clinvar/283918 ^@ NM_001193301.1(SEMA4A):c.524A>G (p.Gln175Arg) http://identifiers.org/clinvar/283919 ^@ NM_012193.3(FZD4):c.1194T>C (p.Tyr398=) http://identifiers.org/clinvar/283920 ^@ NM_002968.2(SALL1):c.235G>C (p.Ala79Pro) http://identifiers.org/clinvar/283921 ^@ NM_001203.2(BMPR1B):c.247-4A>G http://identifiers.org/clinvar/283922 ^@ NM_004273.4(CHST3):c.1191G>A (p.Val397=) http://identifiers.org/clinvar/283923 ^@ NM_198525.2(KIF7):c.1177G>T (p.Gly393Cys) http://identifiers.org/clinvar/283924 ^@ NM_001080522.2(CC2D2A):c.2385G>C (p.Leu795=) http://identifiers.org/clinvar/283925 ^@ NM_021625.4(TRPV4):c.1233T>C (p.Tyr411=) http://identifiers.org/clinvar/283926 ^@ NM_013227.3(ACAN):c.2037G>A (p.Ala679=) http://identifiers.org/clinvar/283927 ^@ NM_020800.2(IFT80):c.2307C>T (p.Ser769=) http://identifiers.org/clinvar/283928 ^@ NM_001844.4(COL2A1):c.1717G>C (p.Gly573Arg) http://identifiers.org/clinvar/283929 ^@ NM_015272.4(RPGRIP1L):c.962G>A (p.Arg321His) http://identifiers.org/clinvar/283930 ^@ NM_015311.2(OBSL1):c.2424C>A (p.Ile808=) http://identifiers.org/clinvar/283931 ^@ NM_006037.3(HDAC4):c.955G>A (p.Ala319Thr) http://identifiers.org/clinvar/283932 ^@ NM_016513.4(ICK):c.534C>T (p.Ser178=) http://identifiers.org/clinvar/283933 ^@ NM_019109.4(ALG1):c.1072G>C (p.Gly358Arg) http://identifiers.org/clinvar/283934 ^@ NM_001267550.2(TTN):c.53122_53123delAAinsGT (p.Lys17708Val) http://identifiers.org/clinvar/283935 ^@ NM_182914.2(SYNE2):c.19948G>A (p.Glu6650Lys) http://identifiers.org/clinvar/283936 ^@ NM_033071.3(SYNE1):c.16771C>A (p.Arg5591Ser) http://identifiers.org/clinvar/283937 ^@ NM_001128227.2(GNE):c.936C>T (p.His312=) http://identifiers.org/clinvar/283938 ^@ NM_182914.2(SYNE2):c.14053G>A (p.Ala4685Thr) http://identifiers.org/clinvar/283939 ^@ NM_213599.2(ANO5):c.720G>T (p.Leu240=) http://identifiers.org/clinvar/283940 ^@ NM_182961.3(SYNE1):c.24861C>T (p.His8287=) http://identifiers.org/clinvar/283941 ^@ NM_001267550.2(TTN):c.4238C>G (p.Ser1413Cys) http://identifiers.org/clinvar/283942 ^@ NM_001849.3(COL6A2):c.1332+10C>T http://identifiers.org/clinvar/283943 ^@ NM_001101426.3(ISPD):c.209C>G (p.Pro70Arg) http://identifiers.org/clinvar/283944 ^@ NM_012210.3(TRIM32):c.1354C>T (p.Leu452Phe) http://identifiers.org/clinvar/283945 ^@ NM_004006.2(DMD):c.5140G>T (p.Glu1714Ter) http://identifiers.org/clinvar/283946 ^@ NM_182914.2(SYNE2):c.907A>G (p.Met303Val) http://identifiers.org/clinvar/283947 ^@ NM_201383.2(PLEC):c.8078G>A (p.Arg2693His) http://identifiers.org/clinvar/283948 ^@ NM_001130987.1(DYSF):c.5450T>G (p.Ile1817Ser) http://identifiers.org/clinvar/283949 ^@ NM_004369.3(COL6A3):c.9130G>A (p.Val3044Ile) http://identifiers.org/clinvar/283950 ^@ NM_001848.2(COL6A1):c.1611+1G>A http://identifiers.org/clinvar/283951 ^@ NM_201381.2(PLEC):c.5691G>A (p.Ala1897=) http://identifiers.org/clinvar/283952 ^@ NM_000231.2(SGCG):c.752delC (p.Thr251Serfs) http://identifiers.org/clinvar/283953 ^@ NM_213599.2(ANO5):c.233G>C (p.Arg78Thr) http://identifiers.org/clinvar/283954 ^@ NM_213599.2(ANO5):c.1860G>A (p.Gly620=) http://identifiers.org/clinvar/283955 ^@ NM_001267550.2(TTN):c.58105A>G (p.Lys19369Glu) http://identifiers.org/clinvar/283956 ^@ NM_004006.2(DMD):c.5326-3dupT http://identifiers.org/clinvar/283957 ^@ NM_182914.2(SYNE2):c.3885C>T (p.His1295=) http://identifiers.org/clinvar/283958 ^@ NM_000445.4(PLEC):c.1731C>T (p.Ser577=) http://identifiers.org/clinvar/283959 ^@ NM_015295.2(SMCHD1):c.1810T>A (p.Trp604Arg) http://identifiers.org/clinvar/283960 ^@ NM_005572.3(LMNA):c.1415A>C (p.Gln472Pro) http://identifiers.org/clinvar/283961 ^@ NM_201381.2(PLEC):c.9219C>T (p.Tyr3073=) http://identifiers.org/clinvar/283962 ^@ NM_001267550.2(TTN):c.9679A>T (p.Ser3227Cys) http://identifiers.org/clinvar/283963 ^@ NM_182914.2(SYNE2):c.14139+5G>A http://identifiers.org/clinvar/283964 ^@ NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) http://identifiers.org/clinvar/283965 ^@ NM_001130987.1(DYSF):c.854G>A (p.Arg285Gln) http://identifiers.org/clinvar/283966 ^@ NM_012470.3(TNPO3):c.934T>A (p.Cys312Ser) http://identifiers.org/clinvar/283967 ^@ NM_213599.2(ANO5):c.689A>G (p.Asp230Gly) http://identifiers.org/clinvar/283968 ^@ NM_000445.4(PLEC):c.4182C>T (p.Ala1394=) http://identifiers.org/clinvar/283969 ^@ NM_201380.3(PLEC):c.5156G>A (p.Arg1719His) http://identifiers.org/clinvar/283970 ^@ NM_000445.4(PLEC):c.8577C>T (p.Arg2859=) http://identifiers.org/clinvar/283971 ^@ NM_000152.4(GAA):c.1888+5G>T http://identifiers.org/clinvar/283972 ^@ NM_182961.3(SYNE1):c.24499A>C (p.Ile8167Leu) http://identifiers.org/clinvar/283973 ^@ NM_001849.3(COL6A2):c.786C>G (p.Gly262=) http://identifiers.org/clinvar/283974 ^@ NM_007171.3(POMT1):c.330C>G (p.Leu110=) http://identifiers.org/clinvar/283975 ^@ NM_201383.2(PLEC):c.6111G>A (p.Ala2037=) http://identifiers.org/clinvar/283976 ^@ NM_001267550.2(TTN):c.68688C>T (p.Val22896=) http://identifiers.org/clinvar/283977 ^@ NM_003494.3(DYSF):c.2423G>A (p.Arg808Gln) http://identifiers.org/clinvar/283978 ^@ NM_001267550.2(TTN):c.47708A>G (p.Lys15903Arg) http://identifiers.org/clinvar/283979 ^@ NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) http://identifiers.org/clinvar/283980 ^@ NM_000231.2(SGCG):c.386-2A>G http://identifiers.org/clinvar/283981 ^@ NM_182914.2(SYNE2):c.1154A>G (p.Asn385Ser) http://identifiers.org/clinvar/283982 ^@ NM_001130987.1(DYSF):c.6249G>T (p.Arg2083=) http://identifiers.org/clinvar/283983 ^@ NM_182961.3(SYNE1):c.7777C>G (p.Gln2593Glu) http://identifiers.org/clinvar/283984 ^@ NM_004369.3(COL6A3):c.7687G>C (p.Gly2563Arg) http://identifiers.org/clinvar/283985 ^@ NM_001101426.3(ISPD):c.255G>A (p.Glu85=) http://identifiers.org/clinvar/283986 ^@ NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) http://identifiers.org/clinvar/283987 ^@ NM_213599.2(ANO5):c.2200C>A (p.Leu734Ile) http://identifiers.org/clinvar/283988 ^@ NM_182914.2(SYNE2):c.15781G>A (p.Val5261Ile) http://identifiers.org/clinvar/283989 ^@ NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr) http://identifiers.org/clinvar/283990 ^@ NM_182914.2(SYNE2):c.14207C>T (p.Thr4736Ile) http://identifiers.org/clinvar/283991 ^@ NM_000070.2(CAPN3):c.1318C>T (p.Arg440Trp) http://identifiers.org/clinvar/283992 ^@ NM_001165928.3(DAG1):c.2451C>T (p.Leu817=) http://identifiers.org/clinvar/283993 ^@ NM_001848.2(COL6A1):c.957+7G>C http://identifiers.org/clinvar/283994 ^@ NM_004369.3(COL6A3):c.8256G>A (p.Leu2752=) http://identifiers.org/clinvar/283995 ^@ NM_001849.3(COL6A2):c.2741_2743delTCT (p.Phe914del) http://identifiers.org/clinvar/283996 ^@ NM_001849.3(COL6A2):c.1816G>C (p.Asp606His) http://identifiers.org/clinvar/283997 ^@ NM_004369.3(COL6A3):c.2977A>G (p.Ile993Val) http://identifiers.org/clinvar/283998 ^@ NM_001849.3(COL6A2):c.1060G>A (p.Asp354Asn) http://identifiers.org/clinvar/283999 ^@ NM_001848.2(COL6A1):c.1437C>T (p.Gly479=) http://identifiers.org/clinvar/284000 ^@ NM_000023.3(SGCA):c.1091A>G (p.Asn364Ser) http://identifiers.org/clinvar/284001 ^@ NM_001271208.1(NEB):c.7748T>C (p.Ile2583Thr) http://identifiers.org/clinvar/284002 ^@ NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) http://identifiers.org/clinvar/284003 ^@ NM_001130987.1(DYSF):c.3113C>T (p.Pro1038Leu) http://identifiers.org/clinvar/284004 ^@ NM_002206.2(ITGA7):c.1828G>A (p.Gly610Arg) http://identifiers.org/clinvar/284005 ^@ NM_003282.3(TNNI2):c.111T>C (p.Arg37=) http://identifiers.org/clinvar/284006 ^@ NM_206933.2(USH2A):c.9390G>A (p.Trp3130Ter) http://identifiers.org/clinvar/284007 ^@ NM_206933.2(USH2A):c.6618A>G (p.Gln2206=) http://identifiers.org/clinvar/284008 ^@ NM_206933.2(USH2A):c.12443T>C (p.Leu4148Pro) http://identifiers.org/clinvar/284010 ^@ NM_018319.3(TDP1):c.-3A>G http://identifiers.org/clinvar/284011 ^@ NM_000371.3(TTR):c.13C>G (p.Arg5Gly) http://identifiers.org/clinvar/284012 ^@ NM_018979.3(WNK1):c.2490G>A (p.Pro830=) http://identifiers.org/clinvar/284013 ^@ NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) http://identifiers.org/clinvar/284014 ^@ NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) http://identifiers.org/clinvar/284015 ^@ NM_004715.4(CTDP1):c.1746_1748dupGGA (p.Glu582_Asp583insGlu) http://identifiers.org/clinvar/284016 ^@ NM_183416.3(KIF1B):c.3092T>C (p.Ile1031Thr) http://identifiers.org/clinvar/284017 ^@ NM_014363.5(SACS):c.9731T>A (p.Leu3244His) http://identifiers.org/clinvar/284018 ^@ NM_025137.3(SPG11):c.316G>A (p.Ala106Thr) http://identifiers.org/clinvar/284019 ^@ NM_139343.2(BIN1):c.1154C>T (p.Ser385Leu) http://identifiers.org/clinvar/284020 ^@ NM_001909.4(CTSD):c.346G>A (p.Ala116Thr) http://identifiers.org/clinvar/284021 ^@ NM_001014797.2(KCNMA1):c.3473C>T (p.Thr1158Ile) http://identifiers.org/clinvar/284022 ^@ NM_005682.6(ADGRG1):c.373C>G (p.Gln125Glu) http://identifiers.org/clinvar/284023 ^@ NM_005045.3(RELN):c.10160G>A (p.Arg3387Lys) http://identifiers.org/clinvar/284024 ^@ NM_021007.2(SCN2A):c.2016+10A>G http://identifiers.org/clinvar/284025 ^@ NM_198525.2(KIF7):c.3111+9C>A http://identifiers.org/clinvar/284026 ^@ NM_003673.3(TCAP):c.169T>C (p.Cys57Arg) http://identifiers.org/clinvar/284027 ^@ NM_001130987.1(DYSF):c.3421_3422delAA (p.Lys1141Glufs) http://identifiers.org/clinvar/284028 ^@ NM_004369.3(COL6A3):c.6817-6G>A http://identifiers.org/clinvar/284029 ^@ NM_001267550.2(TTN):c.8134A>T (p.Thr2712Ser) http://identifiers.org/clinvar/284030 ^@ NM_182961.3(SYNE1):c.4909G>A (p.Glu1637Lys) http://identifiers.org/clinvar/284031 ^@ NM_033071.3(SYNE1):c.13878G>T (p.Met4626Ile) http://identifiers.org/clinvar/284032 ^@ NM_001298.2(CNGA3):c.967G>C (p.Ala323Pro) http://identifiers.org/clinvar/284033 ^@ NM_002905.3(RDH5):c.753C>T (p.Arg251=) http://identifiers.org/clinvar/284034 ^@ NM_000275.2(OCA2):c.722C>G (p.Pro241Arg) http://identifiers.org/clinvar/284035 ^@ NM_001305581.1(C10orf11):c.602-8A>T http://identifiers.org/clinvar/284036 ^@ NM_013382.5(POMT2):c.1726-9A>G http://identifiers.org/clinvar/284037 ^@ NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) http://identifiers.org/clinvar/284038 ^@ NM_001844.4(COL2A1):c.195C>T (p.Asp65=) http://identifiers.org/clinvar/284039 ^@ NM_001110556.1(FLNA):c.687G>T (p.Met229Ile) http://identifiers.org/clinvar/284040 ^@ NM_006019.3(TCIRG1):c.90C>T (p.Gly30=) http://identifiers.org/clinvar/284041 ^@ NM_001287.5(CLCN7):c.1155C>T (p.Gly385=) http://identifiers.org/clinvar/284042 ^@ NM_020223.3(FAM20C):c.1672C>T (p.Arg558Trp) http://identifiers.org/clinvar/284043 ^@ NM_198965.1(PTHLH):c.408G>A (p.Gln136=) http://identifiers.org/clinvar/284044 ^@ NM_001457.3(FLNB):c.2493C>T (p.Pro831=) http://identifiers.org/clinvar/284045 ^@ NM_001163213.1(FGFR3):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/284046 ^@ NM_007255.2(B4GALT7):c.791G>A (p.Arg264Gln) http://identifiers.org/clinvar/284047 ^@ NM_001853.3(COL9A3):c.1571G>A (p.Arg524His) http://identifiers.org/clinvar/284048 ^@ NM_001853.3(COL9A3):c.1263C>T (p.Gly421=) http://identifiers.org/clinvar/284049 ^@ NM_001701.3(BAAT):c.843T>G (p.Ser281=) http://identifiers.org/clinvar/284050 ^@ NM_002857.3(PEX19):c.261C>T (p.Phe87=) http://identifiers.org/clinvar/284051 ^@ NM_138694.3(PKHD1):c.2265G>A (p.Pro755=) http://identifiers.org/clinvar/284052 ^@ NM_182914.2(SYNE2):c.14257A>G (p.Ile4753Val) http://identifiers.org/clinvar/284053 ^@ NM_000023.3(SGCA):c.748-10C>A http://identifiers.org/clinvar/284054 ^@ NM_004369.3(COL6A3):c.9180C>G (p.Cys3060Trp) http://identifiers.org/clinvar/284055 ^@ NM_006731.2(FKTN):c.1317_1318dupTC (p.Pro440Leufs) http://identifiers.org/clinvar/284056 ^@ NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser) http://identifiers.org/clinvar/284057 ^@ NM_004369.3(COL6A3):c.2219G>A (p.Arg740His) http://identifiers.org/clinvar/284058 ^@ NM_007171.3(POMT1):c.1998C>T (p.Tyr666=) http://identifiers.org/clinvar/284059 ^@ NM_012210.3(TRIM32):c.986C>T (p.Pro329Leu) http://identifiers.org/clinvar/284060 ^@ NM_005413.3(SIX3):c.369G>A (p.Glu123=) http://identifiers.org/clinvar/284061 ^@ NM_000525.3(KCNJ11):c.584_586delGCC (p.Arg195del) http://identifiers.org/clinvar/284062 ^@ NM_032119.3(ADGRV1):c.15059C>A (p.Thr5020Lys) http://identifiers.org/clinvar/284063 ^@ NM_001267550.2(TTN):c.76949C>A (p.Ala25650Asp) http://identifiers.org/clinvar/284064 ^@ NM_001848.2(COL6A1):c.623C>T (p.Thr208Met) http://identifiers.org/clinvar/284065 ^@ NM_001136194.1(FASTKD2):c.882-3C>T http://identifiers.org/clinvar/284066 ^@ NM_003477.2(PDHX):c.160+9C>T http://identifiers.org/clinvar/284067 ^@ NM_001267550.2(TTN):c.15497-7T>C http://identifiers.org/clinvar/284068 ^@ NM_000070.2(CAPN3):c.2429A>G (p.Asn810Ser) http://identifiers.org/clinvar/284069 ^@ NM_018849.2(ABCB4):c.81-16A>G http://identifiers.org/clinvar/284070 ^@ NM_022437.2(ABCG8):c.453G>A (p.Val151=) http://identifiers.org/clinvar/284071 ^@ NM_001457.3(FLNB):c.720C>T (p.Ala240=) http://identifiers.org/clinvar/284072 ^@ NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) http://identifiers.org/clinvar/284073 ^@ NM_032119.3(ADGRV1):c.14931A>G (p.Leu4977=) http://identifiers.org/clinvar/284074 ^@ NM_000138.4(FBN1):c.2114-3C>G http://identifiers.org/clinvar/284075 ^@ NM_053025.3(MYLK):c.570G>T (p.Pro190=) http://identifiers.org/clinvar/284076 ^@ NM_000138.4(FBN1):c.6837G>A (p.Gly2279=) http://identifiers.org/clinvar/284077 ^@ NM_000350.2(ABCA4):c.5836-7C>T http://identifiers.org/clinvar/284078 ^@ NM_018849.2(ABCB4):c.760G>A (p.Ala254Thr) http://identifiers.org/clinvar/284079 ^@ NM_000463.2(UGT1A1):c.575A>G (p.Tyr192Cys) http://identifiers.org/clinvar/284080 ^@ NM_005529.6(HSPG2):c.5646G>A (p.Leu1882=) http://identifiers.org/clinvar/284081 ^@ NM_006031.5(PCNT):c.2610-8T>C http://identifiers.org/clinvar/284082 ^@ NM_001853.3(COL9A3):c.255+8C>T http://identifiers.org/clinvar/284083 ^@ NM_001844.4(COL2A1):c.3886G>C (p.Gly1296Arg) http://identifiers.org/clinvar/284084 ^@ NM_000168.5(GLI3):c.1485G>A (p.Glu495=) http://identifiers.org/clinvar/284085 ^@ NM_001128225.2(SLC39A13):c.786+6C>T http://identifiers.org/clinvar/284086 ^@ NM_020223.3(FAM20C):c.174C>A (p.Pro58=) http://identifiers.org/clinvar/284087 ^@ NM_000257.3(MYH7):c.4680G>A (p.Arg1560=) http://identifiers.org/clinvar/284088 ^@ NM_182961.3(SYNE1):c.3911G>C (p.Gly1304Ala) http://identifiers.org/clinvar/284089 ^@ NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu) http://identifiers.org/clinvar/284090 ^@ NM_001849.3(COL6A2):c.1312G>A (p.Asp438Asn) http://identifiers.org/clinvar/284091 ^@ NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile) http://identifiers.org/clinvar/284092 ^@ NM_133378.4(TTN):c.70667T>A (p.Ile23556Asn) http://identifiers.org/clinvar/284093 ^@ NM_000152.4(GAA):c.1064T>C (p.Leu355Pro) http://identifiers.org/clinvar/284094 ^@ NM_033071.3(SYNE1):c.23609C>T (p.Thr7870Ile) http://identifiers.org/clinvar/284095 ^@ NM_182961.3(SYNE1):c.3480C>T (p.His1160=) http://identifiers.org/clinvar/284096 ^@ NM_004369.3(COL6A3):c.8636C>T (p.Thr2879Met) http://identifiers.org/clinvar/284097 ^@ NM_001267550.2(TTN):c.34663_34665delGAA (p.Glu11555del) http://identifiers.org/clinvar/284098 ^@ NM_001256850.1(TTN):c.48303T>C (p.Tyr16101=) http://identifiers.org/clinvar/284099 ^@ NM_182914.2(SYNE2):c.5287A>T (p.Met1763Leu) http://identifiers.org/clinvar/284100 ^@ NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) http://identifiers.org/clinvar/284101 ^@ NM_201383.2(PLEC):c.5980G>A (p.Val1994Met) http://identifiers.org/clinvar/284102 ^@ NM_201380.3(PLEC):c.9173C>T (p.Thr3058Met) http://identifiers.org/clinvar/284103 ^@ NM_006726.4(LRBA):c.6055T>G (p.Phe2019Val) http://identifiers.org/clinvar/284104 ^@ NM_001457.3(FLNB):c.492C>G (p.Asn164Lys) http://identifiers.org/clinvar/284105 ^@ NM_001927.3(DES):c.1271C>T (p.Ser424Phe) http://identifiers.org/clinvar/284106 ^@ NM_004369.3(COL6A3):c.3810G>T (p.Arg1270=) http://identifiers.org/clinvar/284107 ^@ NM_024301.4(FKRP):c.1282A>G (p.Thr428Ala) http://identifiers.org/clinvar/284108 ^@ NM_001848.2(COL6A1):c.525T>A (p.Ala175=) http://identifiers.org/clinvar/284109 ^@ NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) http://identifiers.org/clinvar/284110 ^@ NM_001267550.2(TTN):c.107894A>G (p.Asp35965Gly) http://identifiers.org/clinvar/284111 ^@ NM_000152.4(GAA):c.1536C>T (p.Phe512=) http://identifiers.org/clinvar/284112 ^@ NM_001267550.2(TTN):c.77470C>T (p.Arg25824Cys) http://identifiers.org/clinvar/284113 ^@ NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) http://identifiers.org/clinvar/284114 ^@ NM_001849.3(COL6A2):c.2433C>T (p.Ile811=) http://identifiers.org/clinvar/284115 ^@ NM_001165928.3(DAG1):c.510C>T (p.Ala170=) http://identifiers.org/clinvar/284116 ^@ NM_001165928.3(DAG1):c.148A>G (p.Met50Val) http://identifiers.org/clinvar/284117 ^@ NM_001243766.1(POMGNT1):c.418A>G (p.Thr140Ala) http://identifiers.org/clinvar/284118 ^@ NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter) http://identifiers.org/clinvar/284119 ^@ NM_001267550.2(TTN):c.90594T>A (p.His30198Gln) http://identifiers.org/clinvar/284120 ^@ NM_001267550.2(TTN):c.105554C>T (p.Thr35185Ile) http://identifiers.org/clinvar/284121 ^@ NM_004369.3(COL6A3):c.3199G>A (p.Val1067Met) http://identifiers.org/clinvar/284122 ^@ NM_000070.2(CAPN3):c.258dupT (p.Leu87Serfs) http://identifiers.org/clinvar/284123 ^@ NM_004369.3(COL6A3):c.843G>T (p.Val281=) http://identifiers.org/clinvar/284124 ^@ NM_001848.2(COL6A1):c.2890C>T (p.Arg964Trp) http://identifiers.org/clinvar/284125 ^@ NM_004006.2(DMD):c.4307C>A (p.Ala1436Asp) http://identifiers.org/clinvar/284126 ^@ NM_004369.3(COL6A3):c.8966-3C>A http://identifiers.org/clinvar/284127 ^@ NM_033071.3(SYNE1):c.5665G>T (p.Gly1889Cys) http://identifiers.org/clinvar/284128 ^@ NM_182961.3(SYNE1):c.10443+1G>T http://identifiers.org/clinvar/284129 ^@ NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp) http://identifiers.org/clinvar/284130 ^@ NM_033071.3(SYNE1):c.15137T>C (p.Met5046Thr) http://identifiers.org/clinvar/284131 ^@ NM_000070.2(CAPN3):c.239T>C (p.Phe80Ser) http://identifiers.org/clinvar/284132 ^@ NM_182961.3(SYNE1):c.18679C>T (p.Arg6227Trp) http://identifiers.org/clinvar/284133 ^@ NM_000070.2(CAPN3):c.1020G>T (p.Gly340=) http://identifiers.org/clinvar/284134 ^@ NM_033071.3(SYNE1):c.23494C>T (p.His7832Tyr) http://identifiers.org/clinvar/284135 ^@ NM_058246.3(DNAJB6):c.299T>C (p.Phe100Ser) http://identifiers.org/clinvar/284136 ^@ NM_000232.4(SGCB):c.419A>G (p.Asn140Ser) http://identifiers.org/clinvar/284137 ^@ NM_033071.3(SYNE1):c.24743G>A (p.Arg8248Gln) http://identifiers.org/clinvar/284138 ^@ NM_004006.2(DMD):c.1047dupA (p.Glu350Argfs) http://identifiers.org/clinvar/284139 ^@ NM_213599.2(ANO5):c.2446G>T (p.Glu816Ter) http://identifiers.org/clinvar/284140 ^@ NM_004369.3(COL6A3):c.7645C>A (p.Arg2549=) http://identifiers.org/clinvar/284141 ^@ NM_001130987.1(DYSF):c.5361G>A (p.Glu1787=) http://identifiers.org/clinvar/284142 ^@ NM_001848.2(COL6A1):c.356C>T (p.Ala119Val) http://identifiers.org/clinvar/284143 ^@ NM_000070.2(CAPN3):c.1378T>A (p.Tyr460Asn) http://identifiers.org/clinvar/284144 ^@ NM_004369.3(COL6A3):c.8974T>A (p.Ser2992Thr) http://identifiers.org/clinvar/284145 ^@ NM_004369.3(COL6A3):c.4448A>T (p.Asp1483Val) http://identifiers.org/clinvar/284146 ^@ NM_001288953.1(TTC7A):c.198C>T (p.Ser66=) http://identifiers.org/clinvar/284147 ^@ NM_020458.3(TTC7A):c.286G>T (p.Glu96Ter) http://identifiers.org/clinvar/284148 ^@ NM_020458.3(TTC7A):c.1183dupC (p.Gln395Profs) http://identifiers.org/clinvar/284149 ^@ NM_145200.3(CABP4):c.72G>C (p.Gly24=) http://identifiers.org/clinvar/284150 ^@ NM_000329.2(RPE65):c.149_150delTT (p.Phe50Terfs) http://identifiers.org/clinvar/284151 ^@ NM_001298.2(CNGA3):c.1569C>T (p.Asn523=) http://identifiers.org/clinvar/284152 ^@ NM_018965.3(TREM2):c.173G>A (p.Gly58Asp) http://identifiers.org/clinvar/284153 ^@ NM_001080522.2(CC2D2A):c.1899G>C (p.Glu633Asp) http://identifiers.org/clinvar/284154 ^@ NM_000214.2(JAG1):c.36C>A (p.Arg12=) http://identifiers.org/clinvar/284155 ^@ NM_000070.2(CAPN3):c.157A>G (p.Ile53Val) http://identifiers.org/clinvar/284156 ^@ NM_001141945.2(ACTA2):c.616G>A (p.Ala206Thr) http://identifiers.org/clinvar/284157 ^@ NM_152415.2(VPS37A):c.637A>G (p.Ile213Val) http://identifiers.org/clinvar/284158 ^@ NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) http://identifiers.org/clinvar/284159 ^@ NM_001931.4(DLAT):c.423G>A (p.Glu141=) http://identifiers.org/clinvar/284160 ^@ NM_002437.4(MPV17):c.61C>G (p.Leu21Val) http://identifiers.org/clinvar/284161 ^@ NM_015909.3(NBAS):c.5090G>T (p.Arg1697Leu) http://identifiers.org/clinvar/284162 ^@ NM_152617.3(RNF168):c.383C>T (p.Ala128Val) http://identifiers.org/clinvar/284163 ^@ NM_152617.3(RNF168):c.1237G>A (p.Glu413Lys) http://identifiers.org/clinvar/284164 ^@ NM_015909.3(NBAS):c.6790G>C (p.Asp2264His) http://identifiers.org/clinvar/284165 ^@ NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) http://identifiers.org/clinvar/284166 ^@ NM_004727.2(SLC24A1):c.2594A>G (p.Glu865Gly) http://identifiers.org/clinvar/284167 ^@ NM_000487.5(ARSA):c.932G>A (p.Gly311Asp) http://identifiers.org/clinvar/284168 ^@ NM_001123383.1(BCOR):c.4156G>A (p.Asp1386Asn) http://identifiers.org/clinvar/284170 ^@ NM_019892.5(INPP5E):c.61A>T (p.Arg21Trp) http://identifiers.org/clinvar/284171 ^@ NM_000404.3(GLB1):c.647T>C (p.Val216Ala) http://identifiers.org/clinvar/284172 ^@ NM_000404.3(GLB1):c.808T>G (p.Tyr270Asp) http://identifiers.org/clinvar/284173 ^@ NM_000194.2(HPRT1):c.580G>C (p.Asp194His) http://identifiers.org/clinvar/284174 ^@ NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu) http://identifiers.org/clinvar/284175 ^@ NM_000941.2(POR):c.1891G>A (p.Val631Ile) http://identifiers.org/clinvar/284176 ^@ NM_000784.3(CYP27A1):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/284177 ^@ NM_006922.3(SCN3A):c.5394A>G (p.Glu1798=) http://identifiers.org/clinvar/284178 ^@ NM_018100.3(EFHC1):c.1280A>G (p.Glu427Gly) http://identifiers.org/clinvar/284179 ^@ NM_002247.3(KCNMA1):c.3066C>T (p.Asn1022=) http://identifiers.org/clinvar/284180 ^@ NM_020361.4(CPA6):c.975A>G (p.Ala325=) http://identifiers.org/clinvar/284181 ^@ NM_001143979.1(NDE1):c.838G>A (p.Asp280Asn) http://identifiers.org/clinvar/284182 ^@ NM_020920.3(CHD8):c.488G>A (p.Gly163Glu) http://identifiers.org/clinvar/284183 ^@ NM_015384.4(NIPBL):c.2945C>T (p.Pro982Leu) http://identifiers.org/clinvar/284184 ^@ NM_000784.3(CYP27A1):c.958C>T (p.Leu320Phe) http://identifiers.org/clinvar/284185 ^@ NM_001605.2(AARS):c.1168C>T (p.Arg390Cys) http://identifiers.org/clinvar/284186 ^@ NM_001605.2(AARS):c.2047C>T (p.Arg683Trp) http://identifiers.org/clinvar/284187 ^@ NM_014845.5(FIG4):c.2377-11_2377-10delTT http://identifiers.org/clinvar/284188 ^@ NM_000525.3(KCNJ11):c.719T>G (p.Met240Arg) http://identifiers.org/clinvar/284189 ^@ NM_005477.2(HCN4):c.2055C>T (p.Ser685=) http://identifiers.org/clinvar/284190 ^@ NM_198859.3(PRICKLE2):c.229C>G (p.Leu77Val) http://identifiers.org/clinvar/284191 ^@ NM_000388.3(CASR):c.3132G>A (p.Val1044=) http://identifiers.org/clinvar/284192 ^@ NM_000512.4(GALNS):c.1438G>T (p.Val480Phe) http://identifiers.org/clinvar/284193 ^@ NM_005908.3(MANBA):c.1573A>G (p.Ser525Gly) http://identifiers.org/clinvar/284194 ^@ NM_001031681.2(CTNS):c.969C>T (p.Asn323=) http://identifiers.org/clinvar/284195 ^@ NM_024312.4(GNPTAB):c.3114C>T (p.His1038=) http://identifiers.org/clinvar/284197 ^@ NM_004315.5(ASAH1):c.259C>G (p.Pro87Ala) http://identifiers.org/clinvar/284198 ^@ NM_000428.2(LTBP2):c.110G>T (p.Arg37Met) http://identifiers.org/clinvar/284199 ^@ NM_020630.4(RET):c.276C>T (p.Thr92=) http://identifiers.org/clinvar/284200 ^@ NM_024747.5(HPS6):c.444C>G (p.Ala148=) http://identifiers.org/clinvar/284201 ^@ NM_001083961.1(WDR62):c.2766C>T (p.Arg922=) http://identifiers.org/clinvar/284202 ^@ NM_005477.2(HCN4):c.1462G>A (p.Gly488Ser) http://identifiers.org/clinvar/284203 ^@ NM_012301.3(MAGI2):c.2616C>T (p.Asn872=) http://identifiers.org/clinvar/284204 ^@ NM_018136.4(ASPM):c.3726A>G (p.Thr1242=) http://identifiers.org/clinvar/284205 ^@ NM_001110556.1(FLNA):c.7245C>T (p.Pro2415=) http://identifiers.org/clinvar/284206 ^@ NM_005097.3(LGI1):c.34G>T (p.Ala12Ser) http://identifiers.org/clinvar/284207 ^@ NM_170740.1(ALDH5A1):c.1146C>T (p.Arg382=) http://identifiers.org/clinvar/284208 ^@ NM_014467.2(SRPX2):c.646G>A (p.Gly216Ser) http://identifiers.org/clinvar/284209 ^@ NM_005902.3(SMAD3):c.207-10G>A http://identifiers.org/clinvar/284210 ^@ NM_024408.3(NOTCH2):c.5413C>T (p.Leu1805=) http://identifiers.org/clinvar/284211 ^@ NM_017653.3(DYM):c.1778A>G (p.Gln593Arg) http://identifiers.org/clinvar/284212 ^@ NM_014319.4(LEMD3):c.1560+10C>T http://identifiers.org/clinvar/284213 ^@ NM_005529.6(HSPG2):c.10894C>T (p.Arg3632Ter) http://identifiers.org/clinvar/284214 ^@ NM_006037.3(HDAC4):c.2136G>A (p.Gln712=) http://identifiers.org/clinvar/284215 ^@ NM_006031.5(PCNT):c.7300C>A (p.Leu2434Ile) http://identifiers.org/clinvar/284216 ^@ NM_006031.5(PCNT):c.5074G>A (p.Val1692Ile) http://identifiers.org/clinvar/284217 ^@ NM_006019.3(TCIRG1):c.1836C>T (p.Asn612=) http://identifiers.org/clinvar/284218 ^@ NM_006037.3(HDAC4):c.684G>A (p.Pro228=) http://identifiers.org/clinvar/284219 ^@ NM_015074.3(KIF1B):c.4020G>A (p.Ser1340=) http://identifiers.org/clinvar/284220 ^@ NM_001605.2(AARS):c.2192C>T (p.Ser731Leu) http://identifiers.org/clinvar/284221 ^@ NM_006702.4(PNPLA6):c.2016G>A (p.Leu672=) http://identifiers.org/clinvar/284222 ^@ NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) http://identifiers.org/clinvar/284223 ^@ NM_006702.4(PNPLA6):c.2592C>T (p.Gly864=) http://identifiers.org/clinvar/284224 ^@ NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) http://identifiers.org/clinvar/284225 ^@ NM_001190836.1(DCTN1):c.1483C>G (p.Arg495Gly) http://identifiers.org/clinvar/284226 ^@ NM_183416.3(KIF1B):c.2866C>G (p.Arg956Gly) http://identifiers.org/clinvar/284227 ^@ NM_000253.3(MTTP):c.1731C>T (p.Ala577=) http://identifiers.org/clinvar/284228 ^@ NM_183416.3(KIF1B):c.2686G>A (p.Gly896Arg) http://identifiers.org/clinvar/284229 ^@ NM_207352.3(CYP4V2):c.541A>G (p.Ile181Val) http://identifiers.org/clinvar/284230 ^@ NM_152778.2(MFSD8):c.1006G>A (p.Glu336Lys) http://identifiers.org/clinvar/284231 ^@ NM_024075.4(TSEN34):c.-4-4G>A http://identifiers.org/clinvar/284232 ^@ NM_000152.4(GAA):c.2510G>A (p.Arg837His) http://identifiers.org/clinvar/284233 ^@ NM_000152.4(GAA):c.1725C>T (p.Tyr575=) http://identifiers.org/clinvar/284234 ^@ NM_000126.3(ETFA):c.6C>T (p.Phe2=) http://identifiers.org/clinvar/284235 ^@ NM_000255.3(MUT):c.1718T>C (p.Phe573Ser) http://identifiers.org/clinvar/284236 ^@ NM_145691.3(ATPAF2):c.699C>T (p.Ala233=) http://identifiers.org/clinvar/284237 ^@ NM_002225.3(IVD):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/284238 ^@ NM_000199.3(SGSH):c.1337A>G (p.His446Arg) http://identifiers.org/clinvar/284239 ^@ NM_000543.4(SMPD1):c.1195A>G (p.Thr399Ala) http://identifiers.org/clinvar/284240 ^@ NM_005710.2(PQBP1):c.450_453delCAGA (p.Asp150Glufs) http://identifiers.org/clinvar/284241 ^@ NM_001267550.2(TTN):c.105428delG (p.Gly35143Alafs) http://identifiers.org/clinvar/284242 ^@ NM_182961.3(SYNE1):c.19867A>G (p.Ile6623Val) http://identifiers.org/clinvar/284243 ^@ NM_201384.2(PLEC):c.7083G>A (p.Thr2361=) http://identifiers.org/clinvar/284244 ^@ NM_001110556.1(FLNA):c.5278C>T (p.Gln1760Ter) http://identifiers.org/clinvar/284245 ^@ NM_000540.2(RYR1):c.14555A>G (p.Tyr4852Cys) http://identifiers.org/clinvar/284246 ^@ NM_000152.4(GAA):c.1265G>A (p.Arg422Gln) http://identifiers.org/clinvar/284247 ^@ NM_033071.3(SYNE1):c.9396G>C (p.Leu3132=) http://identifiers.org/clinvar/284248 ^@ NM_000445.4(PLEC):c.3566G>A (p.Arg1189Gln) http://identifiers.org/clinvar/284249 ^@ NM_201382.3(PLEC):c.923C>T (p.Pro308Leu) http://identifiers.org/clinvar/284250 ^@ NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) http://identifiers.org/clinvar/284251 ^@ NM_001130987.1(DYSF):c.3566_3567delCT (p.Ser1189Phefs) http://identifiers.org/clinvar/284252 ^@ NM_001130987.1(DYSF):c.3863T>G (p.Leu1288Arg) http://identifiers.org/clinvar/284253 ^@ NM_201384.2(PLEC):c.10076G>C (p.Gly3359Ala) http://identifiers.org/clinvar/284254 ^@ NM_001130987.1(DYSF):c.2929C>T (p.Arg977Trp) http://identifiers.org/clinvar/284255 ^@ NM_024596.4(MCPH1):c.775A>C (p.Lys259Gln) http://identifiers.org/clinvar/284256 ^@ NM_015046.5(SETX):c.6910G>T (p.Asp2304Tyr) http://identifiers.org/clinvar/284257 ^@ NM_033071.3(SYNE1):c.21739G>A (p.Ala7247Thr) http://identifiers.org/clinvar/284258 ^@ NM_001267550.2(TTN):c.8902+1G>A http://identifiers.org/clinvar/284259 ^@ NM_013382.5(POMT2):c.829A>G (p.Lys277Glu) http://identifiers.org/clinvar/284260 ^@ NM_182914.2(SYNE2):c.18315G>A (p.Ser6105=) http://identifiers.org/clinvar/284261 ^@ NM_178857.5(RP1L1):c.329C>T (p.Pro110Leu) http://identifiers.org/clinvar/284262 ^@ NM_152416.3(NDUFAF6):c.715-3C>A http://identifiers.org/clinvar/284263 ^@ NM_000260.3(MYO7A):c.1091C>A (p.Pro364Gln) http://identifiers.org/clinvar/284264 ^@ NM_018136.4(ASPM):c.2641G>A (p.Ala881Thr) http://identifiers.org/clinvar/284265 ^@ NM_001848.2(COL6A1):c.1352A>G (p.Gln451Arg) http://identifiers.org/clinvar/284266 ^@ NM_020631.4(PLEKHG5):c.2377dupG (p.Ala793Glyfs) http://identifiers.org/clinvar/284267 ^@ NM_030962.3(SBF2):c.5451+2T>G http://identifiers.org/clinvar/284268 ^@ NM_153006.2(NAGS):c.1323C>G (p.Tyr441Ter) http://identifiers.org/clinvar/284269 ^@ NM_000528.3(MAN2B1):c.2311G>A (p.Val771Met) http://identifiers.org/clinvar/284270 ^@ NM_000203.4(IDUA):c.845A>T (p.Gln282Leu) http://identifiers.org/clinvar/284271 ^@ NM_000784.3(CYP27A1):c.1017G>A (p.Thr339=) http://identifiers.org/clinvar/284272 ^@ NM_004836.6(EIF2AK3):c.112G>A (p.Ala38Thr) http://identifiers.org/clinvar/284273 ^@ NM_058246.3(DNAJB6):c.831T>G (p.Ser277=) http://identifiers.org/clinvar/284274 ^@ NM_001244008.1(KIF1A):c.2751_2753delGGA (p.Glu917del) http://identifiers.org/clinvar/284275 ^@ NM_000341.3(SLC3A1):c.1500+1G>T http://identifiers.org/clinvar/284276 ^@ NM_001385.2(DPYS):c.424-1G>A http://identifiers.org/clinvar/284277 ^@ NM_153704.5(TMEM67):c.370G>A (p.Glu124Lys) http://identifiers.org/clinvar/284278 ^@ NM_015295.2(SMCHD1):c.4492C>T (p.Pro1498Ser) http://identifiers.org/clinvar/284279 ^@ NM_007171.3(POMT1):c.1003A>G (p.Lys335Glu) http://identifiers.org/clinvar/284280 ^@ NM_033071.3(SYNE1):c.19479+3G>A http://identifiers.org/clinvar/284281 ^@ NM_033071.3(SYNE1):c.10302G>T (p.Thr3434=) http://identifiers.org/clinvar/284282 ^@ NM_004369.3(COL6A3):c.3045A>G (p.Ser1015=) http://identifiers.org/clinvar/284283 ^@ NM_000445.4(PLEC):c.9162G>A (p.Ala3054=) http://identifiers.org/clinvar/284284 ^@ NM_201379.2(PLEC):c.2709C>T (p.Ala903=) http://identifiers.org/clinvar/284285 ^@ NM_012470.3(TNPO3):c.2520C>G (p.Thr840=) http://identifiers.org/clinvar/284286 ^@ NM_000280.4(PAX6):c.358delG (p.Val120Cysfs) http://identifiers.org/clinvar/284287 ^@ NM_004006.2(DMD):c.3649C>G (p.Leu1217Val) http://identifiers.org/clinvar/284288 ^@ NM_004006.2(DMD):c.10101_10103delAGA (p.Glu3367del) http://identifiers.org/clinvar/284289 ^@ NM_012186.2(FOXE3):c.128A>C (p.Glu43Ala) http://identifiers.org/clinvar/284290 ^@ NM_001123383.1(BCOR):c.3781_3782delAG (p.Leu1262Phefs) http://identifiers.org/clinvar/284291 ^@ NM_000553.4(WRN):c.229G>C (p.Asp77His) http://identifiers.org/clinvar/284292 ^@ NM_000875.4(IGF1R):c.2570A>G (p.Asn857Ser) http://identifiers.org/clinvar/284293 ^@ NM_003742.2(ABCB11):c.3411+9C>T http://identifiers.org/clinvar/284294 ^@ NM_133378.4(TTN):c.75277C>T (p.Pro25093Ser) http://identifiers.org/clinvar/284295 ^@ NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp) http://identifiers.org/clinvar/284296 ^@ NM_012210.3(TRIM32):c.6T>G (p.Ala2=) http://identifiers.org/clinvar/284297 ^@ NM_001267550.2(TTN):c.16370G>T (p.Gly5457Val) http://identifiers.org/clinvar/284298 ^@ NM_001165928.3(DAG1):c.2520T>C (p.Thr840=) http://identifiers.org/clinvar/284299 ^@ NM_001267550.2(TTN):c.68228T>G (p.Val22743Gly) http://identifiers.org/clinvar/284300 ^@ NM_182914.2(SYNE2):c.7297G>A (p.Glu2433Lys) http://identifiers.org/clinvar/284301 ^@ NM_182914.2(SYNE2):c.20191-10_20191-9delCT http://identifiers.org/clinvar/284302 ^@ NM_007126.3(VCP):c.79A>G (p.Ile27Val) http://identifiers.org/clinvar/284303 ^@ NM_000747.2(CHRNB1):c.229G>T (p.Val77Leu) http://identifiers.org/clinvar/284304 ^@ NM_007126.3(VCP):c.*4G>T http://identifiers.org/clinvar/284305 ^@ NM_000080.3(CHRNE):c.1079_1080insGCC (p.Pro360_Glu361insPro) http://identifiers.org/clinvar/284306 ^@ NM_001271208.1(NEB):c.2573C>T (p.Ala858Val) http://identifiers.org/clinvar/284307 ^@ NM_004543.4(NEB):c.18952G>A (p.Ala6318Thr) http://identifiers.org/clinvar/284308 ^@ NM_025132.3(WDR19):c.892A>G (p.Ile298Val) http://identifiers.org/clinvar/284309 ^@ NM_001031717.3(CRELD1):c.972C>A (p.Thr324=) http://identifiers.org/clinvar/284310 ^@ NM_014425.4(INVS):c.662dupG (p.Arg222Serfs) http://identifiers.org/clinvar/284311 ^@ NM_032119.3(ADGRV1):c.17215A>G (p.Ile5739Val) http://identifiers.org/clinvar/284312 ^@ NM_001277115.1(DNAH11):c.571C>T (p.His191Tyr) http://identifiers.org/clinvar/284313 ^@ NM_001080463.1(DYNC2H1):c.8782A>C (p.Lys2928Gln) http://identifiers.org/clinvar/284314 ^@ NM_033028.4(BBS4):c.1450+10T>C http://identifiers.org/clinvar/284315 ^@ NM_000080.3(CHRNE):c.1042G>A (p.Glu348Lys) http://identifiers.org/clinvar/284316 ^@ NM_001135659.2(NRXN1):c.3365-2A>G http://identifiers.org/clinvar/284317 ^@ NM_004380.2(CREBBP):c.423T>G (p.Ser141=) http://identifiers.org/clinvar/284318 ^@ NM_205850.2(SLC24A5):c.534G>A (p.Ala178=) http://identifiers.org/clinvar/284319 ^@ NM_000426.3(LAMA2):c.3979_3985dupGAAGACT (p.Phe1329Terfs) http://identifiers.org/clinvar/284320 ^@ NM_001165928.3(DAG1):c.1432A>G (p.Thr478Ala) http://identifiers.org/clinvar/284321 ^@ NM_153818.1(PEX10):c.6C>G (p.Ala2=) http://identifiers.org/clinvar/284322 ^@ NM_153240.4(NPHP3):c.408G>A (p.Thr136=) http://identifiers.org/clinvar/284323 ^@ NM_025193.3(HSD3B7):c.71A>G (p.His24Arg) http://identifiers.org/clinvar/284324 ^@ NM_001130438.2(SPTAN1):c.3720-7C>T http://identifiers.org/clinvar/284325 ^@ NM_004006.2(DMD):c.-681_-680delTT http://identifiers.org/clinvar/284326 ^@ NM_170740.1(ALDH5A1):c.355-9C>G http://identifiers.org/clinvar/284327 ^@ NM_170740.1(ALDH5A1):c.605C>T (p.Thr202Ile) http://identifiers.org/clinvar/284328 ^@ NM_005378.5(MYCN):c.426C>G (p.Thr142=) http://identifiers.org/clinvar/284329 ^@ NM_000138.4(FBN1):c.1566A>T (p.Thr522=) http://identifiers.org/clinvar/284330 ^@ NM_003839.3(TNFRSF11A):c.1340C>T (p.Thr447Ile) http://identifiers.org/clinvar/284331 ^@ NM_002335.3(LRP5):c.738C>T (p.Ser246=) http://identifiers.org/clinvar/284332 ^@ NM_024408.3(NOTCH2):c.6496T>C (p.Ser2166Pro) http://identifiers.org/clinvar/284333 ^@ NM_006486.2(FBLN1):c.286G>A (p.Gly96Ser) http://identifiers.org/clinvar/284334 ^@ NM_006486.2(FBLN1):c.1925G>T (p.Arg642Leu) http://identifiers.org/clinvar/284335 ^@ NM_006662.2(SRCAP):c.5469T>C (p.Leu1823=) http://identifiers.org/clinvar/284336 ^@ NM_001079515.2(TBCE):c.446C>G (p.Ala149Gly) http://identifiers.org/clinvar/284337 ^@ NM_000292.2(PHKA2):c.1396G>A (p.Ala466Thr) http://identifiers.org/clinvar/284338 ^@ NM_013227.3(ACAN):c.1530G>A (p.Pro510=) http://identifiers.org/clinvar/284339 ^@ NM_006031.5(PCNT):c.5975C>T (p.Pro1992Leu) http://identifiers.org/clinvar/284340 ^@ NM_013227.3(ACAN):c.1866C>T (p.Cys622=) http://identifiers.org/clinvar/284341 ^@ NM_015311.2(OBSL1):c.1245G>A (p.Arg415=) http://identifiers.org/clinvar/284342 ^@ NM_022970.3(FGFR2):c.1575A>G (p.Thr525=) http://identifiers.org/clinvar/284343 ^@ NM_004994.2(MMP9):c.773C>T (p.Thr258Ile) http://identifiers.org/clinvar/284344 ^@ NM_001457.3(FLNB):c.4307G>A (p.Arg1436Gln) http://identifiers.org/clinvar/284345 ^@ NM_014714.3(IFT140):c.2542C>T (p.Arg848Cys) http://identifiers.org/clinvar/284346 ^@ NM_013227.3(ACAN):c.1850G>A (p.Arg617His) http://identifiers.org/clinvar/284347 ^@ NM_013227.3(ACAN):c.1515G>A (p.Ala505=) http://identifiers.org/clinvar/284348 ^@ NM_001844.4(COL2A1):c.2600G>T (p.Gly867Val) http://identifiers.org/clinvar/284349 ^@ NM_001110556.1(FLNA):c.3367T>G (p.Ser1123Ala) http://identifiers.org/clinvar/284350 ^@ NM_002381.4(MATN3):c.1379C>T (p.Ser460Leu) http://identifiers.org/clinvar/284351 ^@ NM_004273.4(CHST3):c.*7C>T http://identifiers.org/clinvar/284352 ^@ NM_014780.4(CUL7):c.4898C>T (p.Thr1633Met) http://identifiers.org/clinvar/284353 ^@ NM_000112.3(SLC26A2):c.844G>C (p.Gly282Arg) http://identifiers.org/clinvar/284354 ^@ NM_000141.4(FGFR2):c.1539C>T (p.Thr513=) http://identifiers.org/clinvar/284355 ^@ NM_005529.6(HSPG2):c.4437G>A (p.Glu1479=) http://identifiers.org/clinvar/284356 ^@ NM_052845.3(MMAB):c.625G>A (p.Val209Met) http://identifiers.org/clinvar/284357 ^@ NM_000152.4(GAA):c.546+6C>T http://identifiers.org/clinvar/284358 ^@ NM_052845.3(MMAB):c.79C>T (p.Leu27Phe) http://identifiers.org/clinvar/284359 ^@ NM_000391.3(TPP1):c.1558C>A (p.Arg520Ser) http://identifiers.org/clinvar/284360 ^@ NM_138694.3(PKHD1):c.1285G>C (p.Glu429Gln) http://identifiers.org/clinvar/284361 ^@ NM_022436.2(ABCG5):c.408C>T (p.Asp136=) http://identifiers.org/clinvar/284362 ^@ NM_001168272.1(ITPR1):c.4481C>G (p.Thr1494Arg) http://identifiers.org/clinvar/284363 ^@ NM_002977.3(SCN9A):c.2071+7A>G http://identifiers.org/clinvar/284364 ^@ NM_002180.2(IGHMBP2):c.1060+8G>T http://identifiers.org/clinvar/284365 ^@ NM_133433.3(NIPBL):c.6156G>T (p.Glu2052Asp) http://identifiers.org/clinvar/284366 ^@ NM_000429.2(MAT1A):c.789C>T (p.Gly263=) http://identifiers.org/clinvar/284367 ^@ NM_001127221.1(CACNA1A):c.2679C>T (p.Ser893=) http://identifiers.org/clinvar/284368 ^@ NM_005529.6(HSPG2):c.8961C>T (p.Gly2987=) http://identifiers.org/clinvar/284369 ^@ NM_000900.3(MGP):c.304A>G (p.Thr102Ala) http://identifiers.org/clinvar/284370 ^@ NM_003995.3(NPR2):c.1393_1396delATCA (p.Ile465Profs) http://identifiers.org/clinvar/284371 ^@ NM_006031.5(PCNT):c.4576G>A (p.Asp1526Asn) http://identifiers.org/clinvar/284372 ^@ NM_021939.3(FKBP10):c.1208G>A (p.Arg403Gln) http://identifiers.org/clinvar/284373 ^@ NM_004482.3(GALNT3):c.1694C>T (p.Ala565Val) http://identifiers.org/clinvar/284374 ^@ NM_002427.3(MMP13):c.287_293delGCGGGGT (p.Cys96Phefs) http://identifiers.org/clinvar/284375 ^@ NM_021625.4(TRPV4):c.1284G>A (p.Gly428=) http://identifiers.org/clinvar/284376 ^@ NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) http://identifiers.org/clinvar/284377 ^@ NM_005529.6(HSPG2):c.5648C>T (p.Ala1883Val) http://identifiers.org/clinvar/284378 ^@ NM_002334.3(LRP4):c.4317C>T (p.Ala1439=) http://identifiers.org/clinvar/284380 ^@ NM_001848.2(COL6A1):c.1233C>T (p.Asp411=) http://identifiers.org/clinvar/284381 ^@ NM_004369.3(COL6A3):c.5225G>A (p.Arg1742Gln) http://identifiers.org/clinvar/284382 ^@ NM_213599.2(ANO5):c.11C>G (p.Pro4Arg) http://identifiers.org/clinvar/284383 ^@ NM_001848.2(COL6A1):c.805G>A (p.Gly269Arg) http://identifiers.org/clinvar/284384 ^@ NM_001130987.1(DYSF):c.1577-1699C>T http://identifiers.org/clinvar/284385 ^@ NM_000070.2(CAPN3):c.1336G>A (p.Gly446Ser) http://identifiers.org/clinvar/284386 ^@ NM_001849.3(COL6A2):c.857G>T (p.Gly286Val) http://identifiers.org/clinvar/284387 ^@ NM_201383.2(PLEC):c.12561C>T (p.Ile4187=) http://identifiers.org/clinvar/284388 ^@ NM_000023.3(SGCA):c.737A>G (p.Asn246Ser) http://identifiers.org/clinvar/284389 ^@ NM_033071.3(SYNE1):c.2718A>G (p.Arg906=) http://identifiers.org/clinvar/284390 ^@ NM_213599.2(ANO5):c.364-8dupT http://identifiers.org/clinvar/284392 ^@ NM_032682.5(FOXP1):c.2020G>A (p.Glu674Lys) http://identifiers.org/clinvar/284393 ^@ NM_016373.3(WWOX):c.749C>G (p.Ser250Ter) http://identifiers.org/clinvar/284394 ^@ NM_080632.2(UPF3B):c.758T>C (p.Ile253Thr) http://identifiers.org/clinvar/284395 ^@ NM_017433.4(MYO3A):c.3447_3448delAA (p.Arg1150Ilefs) http://identifiers.org/clinvar/284396 ^@ NM_014231.4(VAMP1):c.65delC (p.Pro22Leufs) http://identifiers.org/clinvar/284397 ^@ NM_004260.3(RECQL4):c.1259-1G>A http://identifiers.org/clinvar/284398 ^@ NM_004560.3(ROR2):c.233C>T (p.Thr78Met) http://identifiers.org/clinvar/284399 ^@ NM_012463.3(ATP6V0A2):c.522-9G>A http://identifiers.org/clinvar/284400 ^@ NM_002025.3(AFF2):c.3606A>G (p.Pro1202=) http://identifiers.org/clinvar/284401 ^@ NM_005188.3(CBL):c.2190G>A (p.Thr730=) http://identifiers.org/clinvar/284402 ^@ NM_001291415.1(KDM6A):c.1907C>T (p.Thr636Met) http://identifiers.org/clinvar/284403 ^@ NM_024757.4(EHMT1):c.271A>T (p.Ile91Leu) http://identifiers.org/clinvar/284404 ^@ NM_004006.2(DMD):c.3688C>T (p.Pro1230Ser) http://identifiers.org/clinvar/284405 ^@ NM_016180.4(SLC45A2):c.1352G>A (p.Arg451His) http://identifiers.org/clinvar/284406 ^@ NM_001142769.1(PCDH15):c.5371T>C (p.Ter1791Arg) http://identifiers.org/clinvar/284407 ^@ NM_000372.4(TYR):c.759A>T (p.Gly253=) http://identifiers.org/clinvar/284408 ^@ NM_002900.2(RBP3):c.816C>A (p.Gly272=) http://identifiers.org/clinvar/284409 ^@ NM_005802.4(TOPORS):c.2160C>T (p.Tyr720=) http://identifiers.org/clinvar/284410 ^@ NM_000642.2(AGL):c.2607A>G (p.Gln869=) http://identifiers.org/clinvar/284411 ^@ NM_206933.2(USH2A):c.908G>A (p.Arg303His) http://identifiers.org/clinvar/284413 ^@ NM_000260.3(MYO7A):c.3582C>T (p.Leu1194=) http://identifiers.org/clinvar/284414 ^@ NM_003494.3(DYSF):c.1931G>A (p.Gly644Glu) http://identifiers.org/clinvar/284415 ^@ NM_000426.3(LAMA2):c.6268+5G>C http://identifiers.org/clinvar/284416 ^@ NM_001003722.1(GLE1):c.679C>T (p.Arg227Cys) http://identifiers.org/clinvar/284417 ^@ NM_003384.2(VRK1):c.466C>A (p.Gln156Lys) http://identifiers.org/clinvar/284418 ^@ NM_032575.2(GLIS2):c.1296C>T (p.Ser432=) http://identifiers.org/clinvar/284419 ^@ NM_001077416.2(TMEM231):c.153G>A (p.Pro51=) http://identifiers.org/clinvar/284421 ^@ NM_006642.3(SDCCAG8):c.597C>A (p.Gly199=) http://identifiers.org/clinvar/284422 ^@ NM_017651.4(AHI1):c.986G>T (p.Arg329Leu) http://identifiers.org/clinvar/284423 ^@ NM_000748.2(CHRNB2):c.255+7G>A http://identifiers.org/clinvar/284424 ^@ NM_002977.3(SCN9A):c.2616C>T (p.Val872=) http://identifiers.org/clinvar/284425 ^@ NM_015311.2(OBSL1):c.4005C>T (p.Asp1335=) http://identifiers.org/clinvar/284426 ^@ NM_198965.1(PTHLH):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/284427 ^@ NM_006019.3(TCIRG1):c.1615G>A (p.Val539Ile) http://identifiers.org/clinvar/284428 ^@ NM_005529.6(HSPG2):c.8397T>G (p.Ser2799=) http://identifiers.org/clinvar/284429 ^@ NM_153717.2(EVC):c.2350G>A (p.Ala784Thr) http://identifiers.org/clinvar/284430 ^@ NM_130468.3(CHST14):c.74C>A (p.Ala25Asp) http://identifiers.org/clinvar/284431 ^@ NM_000719.6(CACNA1C):c.3531C>T (p.Tyr1177=) http://identifiers.org/clinvar/284432 ^@ NM_001458.4(FLNC):c.2244C>A (p.Asn748Lys) http://identifiers.org/clinvar/284433 ^@ NM_133379.4(TTN):c.15350A>T (p.Tyr5117Phe) http://identifiers.org/clinvar/284434 ^@ NM_033056.3(PCDH15):c.3009+7G>A http://identifiers.org/clinvar/284435 ^@ NM_014625.3(NPHS2):c.143C>A (p.Ser48Tyr) http://identifiers.org/clinvar/284436 ^@ NM_006261.4(PROP1):c.636T>C (p.Pro212=) http://identifiers.org/clinvar/284437 ^@ NM_014639.3(TTC37):c.3603A>G (p.Arg1201=) http://identifiers.org/clinvar/284438 ^@ NM_000512.4(GALNS):c.899-6T>C http://identifiers.org/clinvar/284439 ^@ NM_133647.1(SLC12A6):c.1412G>C (p.Ser471Thr) http://identifiers.org/clinvar/284440 ^@ NM_015166.3(MLC1):c.598-9C>T http://identifiers.org/clinvar/284441 ^@ NM_000051.3(ATM):c.706C>G (p.Leu236Val) http://identifiers.org/clinvar/284442 ^@ NM_001267550.2(TTN):c.29253C>T (p.Gly9751=) http://identifiers.org/clinvar/284443 ^@ NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp) http://identifiers.org/clinvar/284444 ^@ NM_004369.3(COL6A3):c.273C>T (p.Phe91=) http://identifiers.org/clinvar/284445 ^@ NM_007171.3(POMT1):c.181T>A (p.Leu61Met) http://identifiers.org/clinvar/284446 ^@ NM_001079802.1(FKTN):c.*4388dupA http://identifiers.org/clinvar/284447 ^@ NM_000337.5(SGCD):c.734G>C (p.Arg245Thr) http://identifiers.org/clinvar/284448 ^@ NM_001128227.2(GNE):c.2001G>A (p.Ala667=) http://identifiers.org/clinvar/284449 ^@ NM_000152.4(GAA):c.1848C>T (p.Asp616=) http://identifiers.org/clinvar/284450 ^@ NM_013382.5(POMT2):c.1935C>T (p.Leu645=) http://identifiers.org/clinvar/284451 ^@ NM_005476.5(GNE):c.1267A>G (p.Ile423Val) http://identifiers.org/clinvar/284452 ^@ NM_000152.4(GAA):c.2647-6G>A http://identifiers.org/clinvar/284453 ^@ NM_004006.2(DMD):c.7820A>T (p.Lys2607Met) http://identifiers.org/clinvar/284454 ^@ NM_004006.2(DMD):c.9874A>G (p.Met3292Val) http://identifiers.org/clinvar/284455 ^@ NM_182961.3(SYNE1):c.12970C>T (p.Arg4324Cys) http://identifiers.org/clinvar/284456 ^@ NM_182961.3(SYNE1):c.14187G>A (p.Ala4729=) http://identifiers.org/clinvar/284457 ^@ NM_004006.2(DMD):c.3422T>G (p.Met1141Arg) http://identifiers.org/clinvar/284458 ^@ NM_015295.2(SMCHD1):c.5923C>T (p.Pro1975Ser) http://identifiers.org/clinvar/284459 ^@ NM_033071.3(SYNE1):c.14962C>T (p.Leu4988=) http://identifiers.org/clinvar/284460 ^@ NM_004369.3(COL6A3):c.5993G>A (p.Arg1998Gln) http://identifiers.org/clinvar/284461 ^@ NM_004006.2(DMD):c.10062T>A (p.Tyr3354Ter) http://identifiers.org/clinvar/284462 ^@ NM_033071.3(SYNE1):c.13508C>T (p.Ala4503Val) http://identifiers.org/clinvar/284463 ^@ NM_174916.2(UBR1):c.3455A>G (p.Tyr1152Cys) http://identifiers.org/clinvar/284464 ^@ NM_003482.3(KMT2D):c.1779A>G (p.Pro593=) http://identifiers.org/clinvar/284465 ^@ NM_000070.2(CAPN3):c.1636C>T (p.Arg546Cys) http://identifiers.org/clinvar/284466 ^@ NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) http://identifiers.org/clinvar/284467 ^@ NM_000445.4(PLEC):c.5601C>T (p.Ala1867=) http://identifiers.org/clinvar/284468 ^@ NM_000070.2(CAPN3):c.533T>C (p.Ile178Thr) http://identifiers.org/clinvar/284469 ^@ NM_003494.3(DYSF):c.206T>G (p.Val69Gly) http://identifiers.org/clinvar/284470 ^@ NM_001130987.1(DYSF):c.5458-1G>A http://identifiers.org/clinvar/284471 ^@ NM_001130987.1(DYSF):c.5635G>A (p.Val1879Met) http://identifiers.org/clinvar/284472 ^@ NM_000434.3(NEU1):c.1230_1234delTGTCTinsGCCAAA (p.Ser410Argfs) http://identifiers.org/clinvar/284473 ^@ NM_002979.4(SCP2):c.609A>G (p.Glu203=) http://identifiers.org/clinvar/284474 ^@ NM_033071.3(SYNE1):c.16771C>T (p.Arg5591Cys) http://identifiers.org/clinvar/284476 ^@ NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro) http://identifiers.org/clinvar/284477 ^@ NM_033071.3(SYNE1):c.22006G>A (p.Ala7336Thr) http://identifiers.org/clinvar/284478 ^@ NM_001849.3(COL6A2):c.115+6A>G http://identifiers.org/clinvar/284479 ^@ NM_001849.3(COL6A2):c.115+6delA http://identifiers.org/clinvar/284480 ^@ NM_000152.4(GAA):c.1143C>T (p.Thr381=) http://identifiers.org/clinvar/284481 ^@ NM_001165928.3(DAG1):c.2043C>T (p.Ile681=) http://identifiers.org/clinvar/284482 ^@ NM_024301.4(FKRP):c.151G>A (p.Val51Ile) http://identifiers.org/clinvar/284483 ^@ NM_000152.4(GAA):c.362A>G (p.Gln121Arg) http://identifiers.org/clinvar/284484 ^@ NM_004369.3(COL6A3):c.6354+1G>T http://identifiers.org/clinvar/284485 ^@ NM_000169.2(GLA):c.1057_1058delAT (p.Met353Aspfs) http://identifiers.org/clinvar/284486 ^@ NM_004369.3(COL6A3):c.7123G>A (p.Asp2375Asn) http://identifiers.org/clinvar/284487 ^@ NM_001130987.1(DYSF):c.6115C>T (p.Arg2039Trp) http://identifiers.org/clinvar/284488 ^@ NM_000232.4(SGCB):c.838G>A (p.Gly280Ser) http://identifiers.org/clinvar/284489 ^@ NM_001849.3(COL6A2):c.2009C>A (p.Thr670Asn) http://identifiers.org/clinvar/284490 ^@ NM_182914.2(SYNE2):c.1129-6_1129-4dupTTT http://identifiers.org/clinvar/284491 ^@ NM_001128227.2(GNE):c.1909+4G>C http://identifiers.org/clinvar/284492 ^@ NM_015295.2(SMCHD1):c.2913+6C>G http://identifiers.org/clinvar/284493 ^@ NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) http://identifiers.org/clinvar/284494 ^@ NM_000445.4(PLEC):c.10239G>A (p.Ala3413=) http://identifiers.org/clinvar/284495 ^@ NM_004369.3(COL6A3):c.3852C>A (p.Phe1284Leu) http://identifiers.org/clinvar/284496 ^@ NM_004369.3(COL6A3):c.3699C>T (p.Asp1233=) http://identifiers.org/clinvar/284497 ^@ NM_000152.4(GAA):c.1286A>G (p.Gln429Arg) http://identifiers.org/clinvar/284498 ^@ NM_033071.3(SYNE1):c.13950C>T (p.Asp4650=) http://identifiers.org/clinvar/284499 ^@ NM_182961.3(SYNE1):c.24601G>A (p.Gly8201Arg) http://identifiers.org/clinvar/284500 ^@ NM_006790.2(MYOT):c.129G>C (p.Gln43His) http://identifiers.org/clinvar/284501 ^@ NM_182961.3(SYNE1):c.12452A>G (p.Gln4151Arg) http://identifiers.org/clinvar/284502 ^@ NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) http://identifiers.org/clinvar/284503 ^@ NM_001927.3(DES):c.579-5C>T http://identifiers.org/clinvar/284504 ^@ NM_000232.4(SGCB):c.199_210delTGTGTGATTATC (p.Cys67_Ile70del) http://identifiers.org/clinvar/284505 ^@ NM_182961.3(SYNE1):c.20421A>G (p.Leu6807=) http://identifiers.org/clinvar/284506 ^@ NM_020631.4(PLEKHG5):c.2160G>A (p.Glu720=) http://identifiers.org/clinvar/284507 ^@ NM_004187.3(KDM5C):c.411_412insTA (p.Ala138Terfs) http://identifiers.org/clinvar/284508 ^@ NM_000161.2(GCH1):c.284C>T (p.Pro95Leu) http://identifiers.org/clinvar/284509 ^@ NM_006260.4(DNAJC3):c.808A>C (p.Lys270Gln) http://identifiers.org/clinvar/284510 ^@ NM_201382.3(PLEC):c.7220G>A (p.Arg2407Gln) http://identifiers.org/clinvar/284511 ^@ NM_003494.3(DYSF):c.1215C>T (p.Ile405=) http://identifiers.org/clinvar/284512 ^@ NM_182961.3(SYNE1):c.24577C>T (p.Arg8193Ter) http://identifiers.org/clinvar/284513 ^@ NM_001449.4(FHL1):c.450C>T (p.Cys150=) http://identifiers.org/clinvar/284514 ^@ NM_033071.3(SYNE1):c.26226C>A (p.Tyr8742Ter) http://identifiers.org/clinvar/284515 ^@ NM_000070.2(CAPN3):c.1333G>A (p.Gly445Arg) http://identifiers.org/clinvar/284516 ^@ NM_001159702.2(FHL1):c.767C>T (p.Pro256Leu) http://identifiers.org/clinvar/284517 ^@ NM_001267550.2(TTN):c.65390G>T (p.Cys21797Phe) http://identifiers.org/clinvar/284518 ^@ NM_000070.2(CAPN3):c.1256A>G (p.Asp419Gly) http://identifiers.org/clinvar/284519 ^@ NM_001848.2(COL6A1):c.1602C>T (p.Pro534=) http://identifiers.org/clinvar/284520 ^@ NM_001165928.3(DAG1):c.695A>G (p.Asn232Ser) http://identifiers.org/clinvar/284521 ^@ NM_001035.2(RYR2):c.11206G>A (p.Ala3736Thr) http://identifiers.org/clinvar/284522 ^@ NM_201383.2(PLEC):c.9097G>T (p.Val3033Leu) http://identifiers.org/clinvar/284523 ^@ NM_005634.2(SOX3):c.77T>C (p.Ile26Thr) http://identifiers.org/clinvar/284524 ^@ NM_006486.2(FBLN1):c.1209C>T (p.Cys403=) http://identifiers.org/clinvar/284525 ^@ NM_000168.5(GLI3):c.3762T>C (p.Tyr1254=) http://identifiers.org/clinvar/284526 ^@ NM_003482.3(KMT2D):c.5899G>A (p.Gly1967Ser) http://identifiers.org/clinvar/284527 ^@ NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) http://identifiers.org/clinvar/284528 ^@ NM_000088.3(COL1A1):c.2288G>A (p.Arg763His) http://identifiers.org/clinvar/284529 ^@ NM_014918.4(CHSY1):c.1218C>T (p.Asp406=) http://identifiers.org/clinvar/284530 ^@ NM_005529.6(HSPG2):c.4877G>A (p.Arg1626His) http://identifiers.org/clinvar/284531 ^@ NM_020754.3(ARHGAP31):c.2216C>T (p.Pro739Leu) http://identifiers.org/clinvar/284532 ^@ NM_001243246.1(P3H1):c.1346-1G>C http://identifiers.org/clinvar/284533 ^@ NM_002335.3(LRP5):c.1392C>T (p.Ile464=) http://identifiers.org/clinvar/284534 ^@ NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala) http://identifiers.org/clinvar/284535 ^@ NM_006371.4(CRTAP):c.641T>C (p.Val214Ala) http://identifiers.org/clinvar/284536 ^@ NM_001177317.1(SLC34A3):c.273C>T (p.Asp91=) http://identifiers.org/clinvar/284537 ^@ NM_006765.3(TUSC3):c.290G>A (p.Arg97Gln) http://identifiers.org/clinvar/284538 ^@ NM_003482.3(KMT2D):c.3343T>C (p.Phe1115Leu) http://identifiers.org/clinvar/284539 ^@ NM_000124.3(ERCC6):c.1452C>T (p.Asp484=) http://identifiers.org/clinvar/284540 ^@ NM_003159.2(CDKL5):c.1553delC (p.Pro518Hisfs) http://identifiers.org/clinvar/284541 ^@ NM_001037.4(SCN1B):c.268G>A (p.Val90Met) http://identifiers.org/clinvar/284542 ^@ NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu) http://identifiers.org/clinvar/284543 ^@ NM_022124.5(CDH23):c.3852G>A (p.Ser1284=) http://identifiers.org/clinvar/284544 ^@ NM_032119.3(ADGRV1):c.13654-5C>T http://identifiers.org/clinvar/284545 ^@ NM_206933.2(USH2A):c.15306C>G (p.Ala5102=) http://identifiers.org/clinvar/284546 ^@ NM_033056.3(PCDH15):c.4719G>A (p.Leu1573=) http://identifiers.org/clinvar/284547 ^@ NM_003742.2(ABCB11):c.1281C>T (p.Phe427=) http://identifiers.org/clinvar/284548 ^@ NM_001701.3(BAAT):c.511G>A (p.Gly171Ser) http://identifiers.org/clinvar/284549 ^@ NM_138694.3(PKHD1):c.1576A>G (p.Ile526Val) http://identifiers.org/clinvar/284550 ^@ NM_000271.4(NPC1):c.57+7G>A http://identifiers.org/clinvar/284551 ^@ NM_000214.2(JAG1):c.1464C>T (p.Ile488=) http://identifiers.org/clinvar/284552 ^@ NM_138694.3(PKHD1):c.4876A>G (p.Ile1626Val) http://identifiers.org/clinvar/284553 ^@ NM_001848.2(COL6A1):c.325G>A (p.Gly109Ser) http://identifiers.org/clinvar/284554 ^@ NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) http://identifiers.org/clinvar/284555 ^@ NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) http://identifiers.org/clinvar/284556 ^@ NM_001848.2(COL6A1):c.2803G>A (p.Ala935Thr) http://identifiers.org/clinvar/284557 ^@ NM_004369.3(COL6A3):c.7375C>T (p.Arg2459Trp) http://identifiers.org/clinvar/284558 ^@ NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) http://identifiers.org/clinvar/284559 ^@ NM_213599.2(ANO5):c.845A>G (p.Tyr282Cys) http://identifiers.org/clinvar/284560 ^@ NM_001848.2(COL6A1):c.930+1G>A http://identifiers.org/clinvar/284561 ^@ NM_000070.2(CAPN3):c.1745+5G>C http://identifiers.org/clinvar/284562 ^@ NM_182914.2(SYNE2):c.15021C>T (p.Ala5007=) http://identifiers.org/clinvar/284563 ^@ NM_015295.2(SMCHD1):c.5006G>A (p.Arg1669Gln) http://identifiers.org/clinvar/284564 ^@ NM_033071.3(SYNE1):c.12095C>T (p.Ser4032Leu) http://identifiers.org/clinvar/284565 ^@ NM_000445.4(PLEC):c.9773G>A (p.Arg3258His) http://identifiers.org/clinvar/284566 ^@ NM_015295.2(SMCHD1):c.4306A>G (p.Ile1436Val) http://identifiers.org/clinvar/284567 ^@ NM_001848.2(COL6A1):c.285C>G (p.Asp95Glu) http://identifiers.org/clinvar/284568 ^@ NM_033071.3(SYNE1):c.21399C>T (p.Pro7133=) http://identifiers.org/clinvar/284569 ^@ NM_000823.3(GHRHR):c.741C>T (p.Leu247=) http://identifiers.org/clinvar/284570 ^@ NM_000875.4(IGF1R):c.1784G>A (p.Arg595His) http://identifiers.org/clinvar/284571 ^@ NM_000350.2(ABCA4):c.3139delG (p.Glu1047Argfs) http://identifiers.org/clinvar/284572 ^@ NM_000642.2(AGL):c.4018C>A (p.His1340Asn) http://identifiers.org/clinvar/284573 ^@ NM_003494.3(DYSF):c.251C>T (p.Ala84Val) http://identifiers.org/clinvar/284574 ^@ NM_033071.3(SYNE1):c.9625C>T (p.Arg3209Cys) http://identifiers.org/clinvar/284575 ^@ NM_000445.4(PLEC):c.3624C>T (p.Val1208=) http://identifiers.org/clinvar/284576 ^@ NM_000152.4(GAA):c.1851G>A (p.Val617=) http://identifiers.org/clinvar/284577 ^@ NM_213599.2(ANO5):c.2237C>A (p.Ala746Asp) http://identifiers.org/clinvar/284578 ^@ NM_000070.2(CAPN3):c.292G>A (p.Val98Ile) http://identifiers.org/clinvar/284579 ^@ NM_001130987.1(DYSF):c.404C>T (p.Pro135Leu) http://identifiers.org/clinvar/284580 ^@ NM_003494.3(DYSF):c.2614G>A (p.Glu872Lys) http://identifiers.org/clinvar/284581 ^@ NM_201380.3(PLEC):c.2289T>A (p.Thr763=) http://identifiers.org/clinvar/284582 ^@ NM_201379.2(PLEC):c.4455C>T (p.Ser1485=) http://identifiers.org/clinvar/284583 ^@ NM_000445.4(PLEC):c.10377C>A (p.Ala3459=) http://identifiers.org/clinvar/284584 ^@ NM_001848.2(COL6A1):c.957+6C>G http://identifiers.org/clinvar/284585 ^@ NM_001849.3(COL6A2):c.2712G>T (p.Ala904=) http://identifiers.org/clinvar/284586 ^@ NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) http://identifiers.org/clinvar/284587 ^@ NM_001849.3(COL6A2):c.999G>A (p.Lys333=) http://identifiers.org/clinvar/284588 ^@ NM_000124.3(ERCC6):c.2479C>T (p.Leu827=) http://identifiers.org/clinvar/284589 ^@ NM_000124.3(ERCC6):c.2124C>T (p.Ser708=) http://identifiers.org/clinvar/284590 ^@ NM_005045.3(RELN):c.2260C>T (p.Arg754Trp) http://identifiers.org/clinvar/284591 ^@ NM_032119.3(ADGRV1):c.1131T>G (p.Ser377=) http://identifiers.org/clinvar/284592 ^@ NM_145239.2(PRRT2):c.773G>A (p.Gly258Glu) http://identifiers.org/clinvar/284593 ^@ NM_000548.4(TSC2):c.5001C>T (p.Asn1667=) http://identifiers.org/clinvar/284594 ^@ NM_001083961.1(WDR62):c.3231C>T (p.Pro1077=) http://identifiers.org/clinvar/284595 ^@ NM_021072.3(HCN1):c.305T>A (p.Leu102Gln) http://identifiers.org/clinvar/284596 ^@ NM_170740.1(ALDH5A1):c.1518C>T (p.Asn506=) http://identifiers.org/clinvar/284597 ^@ NM_005710.2(PQBP1):c.393_413del21 (p.Gly134_Arg140del) http://identifiers.org/clinvar/284598 ^@ NM_201384.2(PLEC):c.8065C>T (p.Arg2689Cys) http://identifiers.org/clinvar/284599 ^@ NM_001849.3(COL6A2):c.581A>G (p.Gln194Arg) http://identifiers.org/clinvar/284600 ^@ NM_201382.3(PLEC):c.5874G>A (p.Thr1958=) http://identifiers.org/clinvar/284601 ^@ NM_033071.3(SYNE1):c.2086C>A (p.Arg696=) http://identifiers.org/clinvar/284602 ^@ NM_018136.4(ASPM):c.1980C>T (p.Ile660=) http://identifiers.org/clinvar/284603 ^@ NM_018136.4(ASPM):c.7569A>G (p.Gln2523=) http://identifiers.org/clinvar/284604 ^@ NM_018136.4(ASPM):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/284605 ^@ NM_001014797.2(KCNMA1):c.2274T>C (p.Thr758=) http://identifiers.org/clinvar/284606 ^@ NM_001429.3(EP300):c.3330G>T (p.Gln1110His) http://identifiers.org/clinvar/284607 ^@ NM_014780.4(CUL7):c.3834C>T (p.Gly1278=) http://identifiers.org/clinvar/284608 ^@ NM_014780.4(CUL7):c.1570-8G>A http://identifiers.org/clinvar/284609 ^@ NM_004560.3(ROR2):c.1756G>A (p.Ala586Thr) http://identifiers.org/clinvar/284610 ^@ NM_001291415.1(KDM6A):c.2212C>T (p.Pro738Ser) http://identifiers.org/clinvar/284611 ^@ NM_000192.3(TBX5):c.828C>T (p.Ser276=) http://identifiers.org/clinvar/284612 ^@ NM_013227.3(ACAN):c.4347C>T (p.Ser1449=) http://identifiers.org/clinvar/284613 ^@ NM_001851.4(COL9A1):c.138G>A (p.Lys46=) http://identifiers.org/clinvar/284614 ^@ NM_032580.3(HES7):c.405G>A (p.Pro135=) http://identifiers.org/clinvar/284615 ^@ NM_002968.2(SALL1):c.2373C>A (p.Gly791=) http://identifiers.org/clinvar/284616 ^@ NM_000557.4(GDF5):c.652A>C (p.Arg218=) http://identifiers.org/clinvar/284617 ^@ NM_006129.4(BMP1):c.2108-598G>A http://identifiers.org/clinvar/284618 ^@ NM_003722.4(TP63):c.399C>T (p.Pro133=) http://identifiers.org/clinvar/284619 ^@ NM_001851.4(COL9A1):c.2011G>A (p.Glu671Lys) http://identifiers.org/clinvar/284620 ^@ NM_001159772.1(CANT1):c.966C>T (p.Ser322=) http://identifiers.org/clinvar/284621 ^@ NM_001017995.2(SH3PXD2B):c.1624_1629delGAGCGG (p.Glu542_Arg543del) http://identifiers.org/clinvar/284622 ^@ NM_001080463.1(DYNC2H1):c.3794G>A (p.Arg1265His) http://identifiers.org/clinvar/284623 ^@ NM_014762.3(DHCR24):c.81C>T (p.Leu27=) http://identifiers.org/clinvar/284624 ^@ NM_020754.3(ARHGAP31):c.2611G>T (p.Val871Phe) http://identifiers.org/clinvar/284625 ^@ NM_002968.2(SALL1):c.1322C>A (p.Thr441Asn) http://identifiers.org/clinvar/284626 ^@ NM_006907.3(PYCR1):c.465C>T (p.Ser155=) http://identifiers.org/clinvar/284627 ^@ NM_014319.4(LEMD3):c.292C>T (p.Leu98Phe) http://identifiers.org/clinvar/284628 ^@ NM_001017989.2(OPA3):c.33G>T (p.Leu11=) http://identifiers.org/clinvar/284629 ^@ NM_004006.2(DMD):c.7023G>T (p.Leu2341=) http://identifiers.org/clinvar/284630 ^@ NM_033071.3(SYNE1):c.15238G>A (p.Val5080Met) http://identifiers.org/clinvar/284631 ^@ NM_182961.3(SYNE1):c.8972C>T (p.Thr2991Met) http://identifiers.org/clinvar/284632 ^@ NM_033071.3(SYNE1):c.5413G>C (p.Asp1805His) http://identifiers.org/clinvar/284633 ^@ NM_004560.3(ROR2):c.1589G>A (p.Arg530Gln) http://identifiers.org/clinvar/284634 ^@ NM_000124.3(ERCC6):c.4143C>T (p.Ser1381=) http://identifiers.org/clinvar/284635 ^@ NM_017780.3(CHD7):c.1104C>T (p.His368=) http://identifiers.org/clinvar/284636 ^@ NM_022436.2(ABCG5):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/284637 ^@ NM_003742.2(ABCB11):c.2012-8T>G http://identifiers.org/clinvar/284638 ^@ NM_001849.3(COL6A2):c.1828C>T (p.Arg610Cys) http://identifiers.org/clinvar/284639 ^@ NM_000070.2(CAPN3):c.2109C>T (p.Leu703=) http://identifiers.org/clinvar/284640 ^@ NM_015386.2(COG4):c.825A>G (p.Thr275=) http://identifiers.org/clinvar/284641 ^@ NM_024079.4(ALG8):c.1507A>G (p.Ile503Val) http://identifiers.org/clinvar/284642 ^@ NM_014319.4(LEMD3):c.2494-9A>G http://identifiers.org/clinvar/284643 ^@ NM_004006.2(DMD):c.3375G>A (p.Ser1125=) http://identifiers.org/clinvar/284644 ^@ NM_024301.4(FKRP):c.313C>T (p.Gln105Ter) http://identifiers.org/clinvar/284645 ^@ NM_153240.4(NPHP3):c.1525-5delT http://identifiers.org/clinvar/284646 ^@ NM_000271.4(NPC1):c.1947+7_1947+8insCGGG http://identifiers.org/clinvar/284647 ^@ NM_004715.4(CTDP1):c.669G>A (p.Thr223=) http://identifiers.org/clinvar/284648 ^@ NM_020631.4(PLEKHG5):c.440-10C>T http://identifiers.org/clinvar/284649 ^@ NM_002180.2(IGHMBP2):c.2295C>T (p.His765=) http://identifiers.org/clinvar/284650 ^@ NM_173500.3(TTBK2):c.2859C>T (p.Asp953=) http://identifiers.org/clinvar/284651 ^@ NM_001037633.1(SIL1):c.539C>T (p.Thr180Ile) http://identifiers.org/clinvar/284652 ^@ NM_181882.2(PRX):c.133C>G (p.Arg45Gly) http://identifiers.org/clinvar/284653 ^@ NM_004984.2(KIF5A):c.2957C>G (p.Pro986Arg) http://identifiers.org/clinvar/284654 ^@ NM_000101.3(CYBA):c.480G>A (p.Pro160=) http://identifiers.org/clinvar/284655 ^@ NM_006726.4(LRBA):c.5004G>A (p.Pro1668=) http://identifiers.org/clinvar/284656 ^@ NM_001177317.1(SLC34A3):c.987C>T (p.Ala329=) http://identifiers.org/clinvar/284657 ^@ NM_001851.4(COL9A1):c.2585A>C (p.Asp862Ala) http://identifiers.org/clinvar/284658 ^@ NM_014762.3(DHCR24):c.731C>T (p.Pro244Leu) http://identifiers.org/clinvar/284659 ^@ NM_000393.4(COL5A2):c.1124G>A (p.Gly375Asp) http://identifiers.org/clinvar/284660 ^@ NM_198525.2(KIF7):c.2237G>A (p.Arg746Gln) http://identifiers.org/clinvar/284662 ^@ NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) http://identifiers.org/clinvar/284663 ^@ NM_000466.2(PEX1):c.3106G>T (p.Ala1036Ser) http://identifiers.org/clinvar/284664 ^@ NM_018849.2(ABCB4):c.1413C>T (p.Ile471=) http://identifiers.org/clinvar/284665 ^@ NM_004172.4(SLC1A3):c.1489T>C (p.Leu497=) http://identifiers.org/clinvar/284666 ^@ NM_014946.3(SPAST):c.1098+5G>T http://identifiers.org/clinvar/284667 ^@ NM_018979.3(WNK1):c.2896G>A (p.Val966Met) http://identifiers.org/clinvar/284668 ^@ NM_002890.2(RASA1):c.2926-8C>T http://identifiers.org/clinvar/284669 ^@ NM_001114753.2(ENG):c.880_881delGA (p.Asp294Hisfs) http://identifiers.org/clinvar/284670 ^@ NM_001082971.1(DDC):c.420G>C (p.Gly140=) http://identifiers.org/clinvar/284671 ^@ NM_153638.3(PANK2):c.310G>T (p.Glu104Ter) http://identifiers.org/clinvar/284672 ^@ NM_000053.3(ATP7B):c.1426G>A (p.Ala476Thr) http://identifiers.org/clinvar/284673 ^@ NM_000795.3(DRD2):c.432G>A (p.Thr144=) http://identifiers.org/clinvar/284674 ^@ NM_199292.2(TH):c.738C>T (p.His246=) http://identifiers.org/clinvar/284675 ^@ NM_001189.3(NKX3-2):c.351C>G (p.Gly117=) http://identifiers.org/clinvar/284676 ^@ NM_015295.2(SMCHD1):c.4847-6delT http://identifiers.org/clinvar/284677 ^@ NM_004006.2(DMD):c.8217+3A>C http://identifiers.org/clinvar/284678 ^@ NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) http://identifiers.org/clinvar/284679 ^@ NM_012210.3(TRIM32):c.98G>A (p.Arg33His) http://identifiers.org/clinvar/284680 ^@ NM_182961.3(SYNE1):c.12016G>A (p.Val4006Met) http://identifiers.org/clinvar/284681 ^@ NM_033071.3(SYNE1):c.1059T>C (p.Asp353=) http://identifiers.org/clinvar/284682 ^@ NM_004369.3(COL6A3):c.6175G>T (p.Gly2059Cys) http://identifiers.org/clinvar/284683 ^@ NM_001165928.3(DAG1):c.1875G>A (p.Lys625=) http://identifiers.org/clinvar/284684 ^@ NM_012470.3(TNPO3):c.1636C>T (p.Arg546Cys) http://identifiers.org/clinvar/284685 ^@ NM_000023.3(SGCA):c.307A>G (p.Ile103Val) http://identifiers.org/clinvar/284686 ^@ NM_004006.2(DMD):c.8322G>T (p.Leu2774=) http://identifiers.org/clinvar/284687 ^@ NM_001849.3(COL6A2):c.1705C>T (p.Arg569Trp) http://identifiers.org/clinvar/284688 ^@ NM_033071.3(SYNE1):c.13423G>A (p.Val4475Ile) http://identifiers.org/clinvar/284689 ^@ NM_024301.4(FKRP):c.803T>G (p.Leu268Arg) http://identifiers.org/clinvar/284690 ^@ NM_182961.3(SYNE1):c.5441A>G (p.Glu1814Gly) http://identifiers.org/clinvar/284691 ^@ NM_033071.3(SYNE1):c.12717C>T (p.Asp4239=) http://identifiers.org/clinvar/284692 ^@ NM_001130987.1(DYSF):c.3326G>A (p.Arg1109His) http://identifiers.org/clinvar/284693 ^@ NM_001849.3(COL6A2):c.2197G>A (p.Gly733Arg) http://identifiers.org/clinvar/284694 ^@ NM_213599.2(ANO5):c.1497A>G (p.Ala499=) http://identifiers.org/clinvar/284695 ^@ NM_016725.2(FOLR1):c.357+8T>A http://identifiers.org/clinvar/284696 ^@ NM_000833.4(GRIN2A):c.741C>T (p.Gly247=) http://identifiers.org/clinvar/284697 ^@ NM_000833.4(GRIN2A):c.666C>T (p.Ile222=) http://identifiers.org/clinvar/284698 ^@ NM_014191.3(SCN8A):c.1570A>G (p.Met524Val) http://identifiers.org/clinvar/284699 ^@ NM_207346.2(TSEN54):c.949G>T (p.Ala317Ser) http://identifiers.org/clinvar/284700 ^@ NM_001042537.1(SLC9A6):c.604-6delT http://identifiers.org/clinvar/284701 ^@ NM_181332.2(NLGN4X):c.2223C>T (p.His741=) http://identifiers.org/clinvar/284702 ^@ NM_015384.4(NIPBL):c.862C>A (p.Pro288Thr) http://identifiers.org/clinvar/284703 ^@ NM_002025.3(AFF2):c.781C>T (p.Pro261Ser) http://identifiers.org/clinvar/284704 ^@ NM_207361.5(FREM2):c.6499C>T (p.Arg2167Trp) http://identifiers.org/clinvar/284705 ^@ NM_207361.5(FREM2):c.6490T>C (p.Cys2164Arg) http://identifiers.org/clinvar/284706 ^@ NM_013227.3(ACAN):c.185C>A (p.Thr62Asn) http://identifiers.org/clinvar/284707 ^@ NM_000070.2(CAPN3):c.1957C>T (p.Gln653Ter) http://identifiers.org/clinvar/284708 ^@ NM_000023.3(SGCA):c.292C>T (p.Arg98Cys) http://identifiers.org/clinvar/284709 ^@ NM_004006.2(DMD):c.5587-10C>A http://identifiers.org/clinvar/284710 ^@ NM_003494.3(DYSF):c.1354-6C>T http://identifiers.org/clinvar/284711 ^@ NM_001110556.1(FLNA):c.4237G>A (p.Glu1413Lys) http://identifiers.org/clinvar/284712 ^@ NM_004006.2(DMD):c.9479G>A (p.Arg3160His) http://identifiers.org/clinvar/284713 ^@ NM_006662.2(SRCAP):c.8035G>A (p.Glu2679Lys) http://identifiers.org/clinvar/284715 ^@ NM_181332.2(NLGN4X):c.2259G>C (p.Arg753Ser) http://identifiers.org/clinvar/284716 ^@ NM_152564.4(VPS13B):c.5005dupT (p.Ser1669Phefs) http://identifiers.org/clinvar/284717 ^@ NM_004006.2(DMD):c.696C>G (p.Ile232Met) http://identifiers.org/clinvar/284718 ^@ NM_170740.1(ALDH5A1):c.123G>A (p.Pro41=) http://identifiers.org/clinvar/284719 ^@ NM_000095.2(COMP):c.1222G>C (p.Asp408His) http://identifiers.org/clinvar/284720 ^@ NM_006037.3(HDAC4):c.958G>A (p.Val320Ile) http://identifiers.org/clinvar/284721 ^@ NM_005529.6(HSPG2):c.3747C>T (p.Cys1249=) http://identifiers.org/clinvar/284722 ^@ NM_005603.4(ATP8B1):c.189A>G (p.Thr63=) http://identifiers.org/clinvar/284723 ^@ NM_003742.2(ABCB11):c.3512T>C (p.Met1171Thr) http://identifiers.org/clinvar/284724 ^@ NM_000515.4(GH1):c.547C>T (p.Leu183Phe) http://identifiers.org/clinvar/284725 ^@ NM_004977.2(KCNC3):c.123G>T (p.Gln41His) http://identifiers.org/clinvar/284726 ^@ NM_001035.2(RYR2):c.9295G>C (p.Val3099Leu) http://identifiers.org/clinvar/284727 ^@ NM_000515.4(GH1):c.116C>T (p.Ala39Val) http://identifiers.org/clinvar/284728 ^@ NM_000501.3(ELN):c.914_930del17insGCT (p.Ala305Glyfs) http://identifiers.org/clinvar/284729 ^@ NM_000026.3(ADSL):c.482+5G>A http://identifiers.org/clinvar/284730 ^@ NM_006037.3(HDAC4):c.1677G>A (p.Lys559=) http://identifiers.org/clinvar/284731 ^@ NM_002968.2(SALL1):c.2825C>A (p.Pro942His) http://identifiers.org/clinvar/284732 ^@ NM_004006.2(DMD):c.7085C>A (p.Pro2362Gln) http://identifiers.org/clinvar/284733 ^@ NM_000321.2(RB1):c.2548C>T (p.Gln850Ter) http://identifiers.org/clinvar/284734 ^@ NM_198173.2(GRHL3):c.1409G>A (p.Arg470His) http://identifiers.org/clinvar/284735 ^@ NM_001080527.1(MYO7B):c.1046C>T (p.Thr349Met) http://identifiers.org/clinvar/284736 ^@ NM_001080463.1(DYNC2H1):c.6478-6C>T http://identifiers.org/clinvar/284737 ^@ NM_031885.3(BBS2):c.1864C>T (p.Arg622Ter) http://identifiers.org/clinvar/284738 ^@ NM_005559.3(LAMA1):c.2989C>T (p.Pro997Ser) http://identifiers.org/clinvar/284739 ^@ NM_144670.5(A2ML1):c.174_175dupCA (p.Lys59Thrfs) http://identifiers.org/clinvar/284740 ^@ NM_005559.3(LAMA1):c.8260T>C (p.Tyr2754His) http://identifiers.org/clinvar/284741 ^@ NM_004086.2(COCH):c.442C>T (p.Arg148Ter) http://identifiers.org/clinvar/284742 ^@ NM_005559.3(LAMA1):c.9067+4T>C http://identifiers.org/clinvar/284743 ^@ NM_001170629.1(CHD8):c.341C>T (p.Thr114Met) http://identifiers.org/clinvar/284744 ^@ NM_000096.3(CP):c.2554+17G>A http://identifiers.org/clinvar/284745 ^@ NM_018136.4(ASPM):c.9890C>A (p.Ser3297Tyr) http://identifiers.org/clinvar/284746 ^@ NM_014191.3(SCN8A):c.605T>A (p.Ile202Asn) http://identifiers.org/clinvar/284747 ^@ NM_006726.4(LRBA):c.1713C>T (p.His571=) http://identifiers.org/clinvar/284748 ^@ NM_144612.6(LOXHD1):c.2353G>A (p.Ala785Thr) http://identifiers.org/clinvar/284749 ^@ NM_022124.5(CDH23):c.2891G>C (p.Arg964Pro) http://identifiers.org/clinvar/284750 ^@ NM_001854.3(COL11A1):c.5273C>T (p.Ala1758Val) http://identifiers.org/clinvar/284751 ^@ NM_012463.3(ATP6V0A2):c.1766C>T (p.Pro589Leu) http://identifiers.org/clinvar/284752 ^@ NM_001127464.2(ZNF469):c.11687C>T (p.Thr3896Met) http://identifiers.org/clinvar/284753 ^@ NM_053025.3(MYLK):c.2629G>A (p.Val877Met) http://identifiers.org/clinvar/284754 ^@ NM_001105.4(ACVR1):c.1392C>G (p.Asp464Glu) http://identifiers.org/clinvar/284755 ^@ NM_001127464.2(ZNF469):c.2017G>A (p.Ala673Thr) http://identifiers.org/clinvar/284756 ^@ NM_015102.4(NPHP4):c.2807C>T (p.Thr936Met) http://identifiers.org/clinvar/284757 ^@ NM_022436.2(ABCG5):c.1570G>A (p.Val524Ile) http://identifiers.org/clinvar/284758 ^@ NM_022437.2(ABCG8):c.787C>T (p.Arg263Trp) http://identifiers.org/clinvar/284759 ^@ NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) http://identifiers.org/clinvar/284760 ^@ NM_003680.3(YARS):c.510+10G>C http://identifiers.org/clinvar/284761 ^@ NM_025137.3(SPG11):c.979C>G (p.Leu327Val) http://identifiers.org/clinvar/284762 ^@ NM_001927.3(DES):c.97C>T (p.Pro33Ser) http://identifiers.org/clinvar/284763 ^@ NM_001277313.1(FMN1):c.3714+12T>C http://identifiers.org/clinvar/284764 ^@ NM_005188.3(CBL):c.1651C>T (p.Pro551Ser) http://identifiers.org/clinvar/284765 ^@ NM_001165928.3(DAG1):c.1306A>G (p.Thr436Ala) http://identifiers.org/clinvar/284766 ^@ NM_001449.4(FHL1):c.689-9dupT http://identifiers.org/clinvar/284767 ^@ NM_182961.3(SYNE1):c.18193C>T (p.Arg6065Trp) http://identifiers.org/clinvar/284768 ^@ NM_001849.3(COL6A2):c.785G>A (p.Gly262Asp) http://identifiers.org/clinvar/284769 ^@ NM_033071.3(SYNE1):c.24336G>A (p.Ala8112=) http://identifiers.org/clinvar/284770 ^@ NM_004369.3(COL6A3):c.5378G>A (p.Ser1793Asn) http://identifiers.org/clinvar/284771 ^@ NM_000231.2(SGCG):c.539A>T (p.Glu180Val) http://identifiers.org/clinvar/284772 ^@ NM_000337.5(SGCD):c.756G>A (p.Thr252=) http://identifiers.org/clinvar/284773 ^@ NM_033071.3(SYNE1):c.8646C>T (p.Ala2882=) http://identifiers.org/clinvar/284774 ^@ NM_004369.3(COL6A3):c.3445C>T (p.Arg1149Trp) http://identifiers.org/clinvar/284775 ^@ NM_000152.4(GAA):c.861C>T (p.Pro287=) http://identifiers.org/clinvar/284776 ^@ NM_000152.4(GAA):c.2237G>T (p.Trp746Leu) http://identifiers.org/clinvar/284777 ^@ NM_033071.3(SYNE1):c.2914-6T>C http://identifiers.org/clinvar/284778 ^@ NM_001848.2(COL6A1):c.2132G>A (p.Arg711Gln) http://identifiers.org/clinvar/284779 ^@ NM_004369.3(COL6A3):c.6897C>T (p.Asp2299=) http://identifiers.org/clinvar/284780 ^@ NM_033071.3(SYNE1):c.7162G>A (p.Ala2388Thr) http://identifiers.org/clinvar/284781 ^@ NM_012210.3(TRIM32):c.1223G>A (p.Arg408His) http://identifiers.org/clinvar/284782 ^@ NM_001128227.2(GNE):c.1338C>T (p.Gly446=) http://identifiers.org/clinvar/284783 ^@ NM_000070.2(CAPN3):c.1637G>A (p.Arg546His) http://identifiers.org/clinvar/284784 ^@ NM_182961.3(SYNE1):c.22771G>A (p.Gly7591Arg) http://identifiers.org/clinvar/284785 ^@ NM_033071.3(SYNE1):c.21924C>T (p.Asp7308=) http://identifiers.org/clinvar/284786 ^@ NM_033071.3(SYNE1):c.25482G>C (p.Arg8494=) http://identifiers.org/clinvar/284787 ^@ NM_033071.3(SYNE1):c.23937C>T (p.His7979=) http://identifiers.org/clinvar/284788 ^@ NM_033071.3(SYNE1):c.753T>C (p.Thr251=) http://identifiers.org/clinvar/284789 ^@ NM_004369.3(COL6A3):c.1214T>C (p.Phe405Ser) http://identifiers.org/clinvar/284790 ^@ NM_000445.4(PLEC):c.9799G>A (p.Glu3267Lys) http://identifiers.org/clinvar/284791 ^@ NM_004369.3(COL6A3):c.7832C>T (p.Ala2611Val) http://identifiers.org/clinvar/284792 ^@ NM_006731.2(FKTN):c.1250A>T (p.Glu417Val) http://identifiers.org/clinvar/284793 ^@ NM_001849.3(COL6A2):c.672C>T (p.Thr224=) http://identifiers.org/clinvar/284794 ^@ NM_001848.2(COL6A1):c.2151C>T (p.Pro717=) http://identifiers.org/clinvar/284795 ^@ NM_201380.3(PLEC):c.10584G>A (p.Ala3528=) http://identifiers.org/clinvar/284796 ^@ NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) http://identifiers.org/clinvar/284797 ^@ NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) http://identifiers.org/clinvar/284798 ^@ NM_001079802.1(FKTN):c.296C>T (p.Ser99Leu) http://identifiers.org/clinvar/284799 ^@ NM_201381.2(PLEC):c.7418G>A (p.Arg2473Gln) http://identifiers.org/clinvar/284800 ^@ NM_001130987.1(DYSF):c.853C>T (p.Arg285Trp) http://identifiers.org/clinvar/284801 ^@ NM_004369.3(COL6A3):c.7749G>A (p.Thr2583=) http://identifiers.org/clinvar/284802 ^@ NM_033071.3(SYNE1):c.1175T>C (p.Val392Ala) http://identifiers.org/clinvar/284803 ^@ NM_213599.2(ANO5):c.1468A>G (p.Thr490Ala) http://identifiers.org/clinvar/284804 ^@ NM_003494.3(DYSF):c.3031+2T>C http://identifiers.org/clinvar/284805 ^@ NM_033071.3(SYNE1):c.9980C>T (p.Thr3327Met) http://identifiers.org/clinvar/284806 ^@ NM_182961.3(SYNE1):c.23712C>G (p.Ile7904Met) http://identifiers.org/clinvar/284807 ^@ NM_000070.2(CAPN3):c.717delT (p.Phe239Leufs) http://identifiers.org/clinvar/284808 ^@ NM_015295.2(SMCHD1):c.985C>A (p.Pro329Thr) http://identifiers.org/clinvar/284809 ^@ NM_001849.3(COL6A2):c.2882C>T (p.Ala961Val) http://identifiers.org/clinvar/284810 ^@ NM_170707.3(LMNA):c.311T>G (p.Leu104Arg) http://identifiers.org/clinvar/284811 ^@ NM_033071.3(SYNE1):c.8860C>G (p.Leu2954Val) http://identifiers.org/clinvar/284812 ^@ NM_004369.3(COL6A3):c.1598G>C (p.Arg533Pro) http://identifiers.org/clinvar/284813 ^@ NM_000070.2(CAPN3):c.589C>T (p.Arg197Cys) http://identifiers.org/clinvar/284814 ^@ NM_000070.2(CAPN3):c.1841A>G (p.Glu614Gly) http://identifiers.org/clinvar/284815 ^@ NM_001849.3(COL6A2):c.2661G>A (p.Glu887=) http://identifiers.org/clinvar/284816 ^@ NM_003494.3(DYSF):c.202G>C (p.Val68Leu) http://identifiers.org/clinvar/284817 ^@ NM_001130987.1(DYSF):c.2864+8G>A http://identifiers.org/clinvar/284818 ^@ NM_182961.3(SYNE1):c.8866C>T (p.Gln2956Ter) http://identifiers.org/clinvar/284819 ^@ NM_213599.2(ANO5):c.1387G>A (p.Gly463Arg) http://identifiers.org/clinvar/284820 ^@ NM_001128227.2(GNE):c.2097C>T (p.Ser699=) http://identifiers.org/clinvar/284821 ^@ NM_000232.4(SGCB):c.392G>A (p.Arg131Gln) http://identifiers.org/clinvar/284822 ^@ NM_001130987.1(DYSF):c.5874T>G (p.Asp1958Glu) http://identifiers.org/clinvar/284823 ^@ NM_004369.3(COL6A3):c.8376C>T (p.Asp2792=) http://identifiers.org/clinvar/284824 ^@ NM_182961.3(SYNE1):c.25305G>T (p.Met8435Ile) http://identifiers.org/clinvar/284825 ^@ NM_001848.2(COL6A1):c.1398G>A (p.Pro466=) http://identifiers.org/clinvar/284826 ^@ NM_001848.2(COL6A1):c.717+4A>G http://identifiers.org/clinvar/284827 ^@ NM_004006.2(DMD):c.1483-7C>A http://identifiers.org/clinvar/284828 ^@ NM_058246.3(DNAJB6):c.417G>A (p.Ser139=) http://identifiers.org/clinvar/284829 ^@ NM_001848.2(COL6A1):c.1096G>A (p.Ala366Thr) http://identifiers.org/clinvar/284830 ^@ NM_004006.2(DMD):c.2937C>T (p.Leu979=) http://identifiers.org/clinvar/284831 ^@ NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) http://identifiers.org/clinvar/284832 ^@ NM_015295.2(SMCHD1):c.873+7T>C http://identifiers.org/clinvar/284833 ^@ NM_001848.2(COL6A1):c.1644C>T (p.Asp548=) http://identifiers.org/clinvar/284834 ^@ NM_001848.2(COL6A1):c.1957-4A>G http://identifiers.org/clinvar/284835 ^@ NM_001848.2(COL6A1):c.1776C>T (p.Asp592=) http://identifiers.org/clinvar/284836 ^@ NM_004006.2(DMD):c.230T>A (p.Val77Asp) http://identifiers.org/clinvar/284837 ^@ NM_003494.3(DYSF):c.426C>T (p.Ser142=) http://identifiers.org/clinvar/284838 ^@ NM_017534.5(MYH2):c.4989G>A (p.Leu1663=) http://identifiers.org/clinvar/284839 ^@ NM_006726.4(LRBA):c.1008T>C (p.Thr336=) http://identifiers.org/clinvar/284840 ^@ NM_000489.4(ATRX):c.4130A>G (p.Glu1377Gly) http://identifiers.org/clinvar/284841 ^@ NM_001531.2(MR1):c.786G>A (p.Ala262=) http://identifiers.org/clinvar/284842 ^@ NM_006749.4(SLC20A2):c.1812C>T (p.Ala604=) http://identifiers.org/clinvar/284843 ^@ NM_005529.6(HSPG2):c.8605G>C (p.Ala2869Pro) http://identifiers.org/clinvar/284844 ^@ NM_005529.6(HSPG2):c.7826G>A (p.Arg2609Gln) http://identifiers.org/clinvar/284845 ^@ NM_005529.6(HSPG2):c.6541G>A (p.Ala2181Thr) http://identifiers.org/clinvar/284846 ^@ NM_152281.2(GORAB):c.158G>A (p.Arg53His) http://identifiers.org/clinvar/284847 ^@ NM_000316.2(PTH1R):c.1117-3C>T http://identifiers.org/clinvar/284848 ^@ NM_000557.4(GDF5):c.1299C>T (p.Cys433=) http://identifiers.org/clinvar/284849 ^@ NM_005529.6(HSPG2):c.12373T>C (p.Tyr4125His) http://identifiers.org/clinvar/284850 ^@ NM_001039958.1(MESP2):c.306C>A (p.His102Gln) http://identifiers.org/clinvar/284851 ^@ NM_014319.4(LEMD3):c.13G>A (p.Ala5Thr) http://identifiers.org/clinvar/284852 ^@ NM_147127.4(EVC2):c.864C>T (p.Asn288=) http://identifiers.org/clinvar/284853 ^@ NM_001103184.3(FMN1):c.110C>A (p.Ser37Tyr) http://identifiers.org/clinvar/284854 ^@ NM_006208.2(ENPP1):c.2335A>C (p.Thr779Pro) http://identifiers.org/clinvar/284855 ^@ NM_020800.2(IFT80):c.371-10C>A http://identifiers.org/clinvar/284856 ^@ NM_001127897.3(RPGRIP1L):c.910G>A (p.Asp304Asn) http://identifiers.org/clinvar/284857 ^@ NM_004560.3(ROR2):c.1671G>A (p.Ser557=) http://identifiers.org/clinvar/284858 ^@ NM_006037.3(HDAC4):c.1963+8G>A http://identifiers.org/clinvar/284859 ^@ NM_001177317.1(SLC34A3):c.790G>A (p.Gly264Ser) http://identifiers.org/clinvar/284860 ^@ NM_000202.7(IDS):c.1265G>A (p.Cys422Tyr) http://identifiers.org/clinvar/284861 ^@ NM_033290.3(MID1):c.1419_1420insCGCAGC (p.Ser473_Ser474insArgSer) http://identifiers.org/clinvar/284862 ^@ NM_004006.2(DMD):c.649+1G>T http://identifiers.org/clinvar/284863 ^@ NM_000096.3(CP):c.2522C>G (p.Thr841Arg) http://identifiers.org/clinvar/284864 ^@ NM_000152.4(GAA):c.1000G>T (p.Gly334Cys) http://identifiers.org/clinvar/284865 ^@ NM_000152.4(GAA):c.1211A>T (p.Asp404Val) http://identifiers.org/clinvar/284866 ^@ NM_000152.4(GAA):c.2161G>C (p.Glu721Gln) http://identifiers.org/clinvar/284867 ^@ NM_058246.3(DNAJB6):c.958_959delAAinsTC (p.Lys320Ser) http://identifiers.org/clinvar/284868 ^@ NM_000095.2(COMP):c.954_955delGGinsTT (p.Asp319Tyr) http://identifiers.org/clinvar/284869 ^@ NM_004369.3(COL6A3):c.5822C>T (p.Ser1941Leu) http://identifiers.org/clinvar/284870 ^@ NM_000070.2(CAPN3):c.2179delT (p.Trp727Glyfs) http://identifiers.org/clinvar/284871 ^@ NM_201383.2(PLEC):c.10086C>T (p.Ala3362=) http://identifiers.org/clinvar/284872 ^@ NM_004369.3(COL6A3):c.6312C>T (p.Gly2104=) http://identifiers.org/clinvar/284873 ^@ NM_000070.2(CAPN3):c.534A>G (p.Ile178Met) http://identifiers.org/clinvar/284874 ^@ NM_003494.3(DYSF):c.3624C>T (p.Ile1208=) http://identifiers.org/clinvar/284875 ^@ NM_024301.4(FKRP):c.731G>T (p.Arg244Leu) http://identifiers.org/clinvar/284876 ^@ NM_005572.3(LMNA):c.652A>C (p.Thr218Pro) http://identifiers.org/clinvar/284877 ^@ NM_001848.2(COL6A1):c.2873C>A (p.Ala958Asp) http://identifiers.org/clinvar/284878 ^@ NM_000023.3(SGCA):c.988C>G (p.Gln330Glu) http://identifiers.org/clinvar/284879 ^@ NM_000070.2(CAPN3):c.1332C>T (p.Ala444=) http://identifiers.org/clinvar/284880 ^@ NM_182961.3(SYNE1):c.4009-10dupT http://identifiers.org/clinvar/284881 ^@ NM_015295.2(SMCHD1):c.789C>T (p.His263=) http://identifiers.org/clinvar/284882 ^@ NM_003494.3(DYSF):c.792+2T>A http://identifiers.org/clinvar/284883 ^@ NM_004006.2(DMD):c.1839A>T (p.Lys613Asn) http://identifiers.org/clinvar/284884 ^@ NM_001101426.3(ISPD):c.840A>G (p.Arg280=) http://identifiers.org/clinvar/284885 ^@ NM_012470.3(TNPO3):c.-9G>A http://identifiers.org/clinvar/284886 ^@ NM_000152.4(GAA):c.2395C>T (p.His799Tyr) http://identifiers.org/clinvar/284887 ^@ NM_012470.3(TNPO3):c.2274-10delT http://identifiers.org/clinvar/284888 ^@ NM_001848.2(COL6A1):c.2309A>G (p.Asn770Ser) http://identifiers.org/clinvar/284889 ^@ NM_007171.3(POMT1):c.424A>T (p.Ile142Phe) http://identifiers.org/clinvar/284890 ^@ NM_014141.5(CNTNAP2):c.2593G>A (p.Gly865Arg) http://identifiers.org/clinvar/284891 ^@ NM_012301.3(MAGI2):c.528G>A (p.Gly176=) http://identifiers.org/clinvar/284892 ^@ NM_182734.2(PLCB1):c.913G>A (p.Gly305Arg) http://identifiers.org/clinvar/284893 ^@ NM_153026.2(PRICKLE1):c.1922G>A (p.Gly641Glu) http://identifiers.org/clinvar/284894 ^@ NM_032119.3(ADGRV1):c.8815C>T (p.Pro2939Ser) http://identifiers.org/clinvar/284895 ^@ NM_001199107.1(TBC1D24):c.1196C>T (p.Thr399Met) http://identifiers.org/clinvar/284896 ^@ NM_024698.5(SLC25A22):c.726C>T (p.Ala242=) http://identifiers.org/clinvar/284897 ^@ NM_001135659.2(NRXN1):c.1850A>G (p.His617Arg) http://identifiers.org/clinvar/284898 ^@ NM_000702.3(ATP1A2):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/284899 ^@ NM_005682.6(ADGRG1):c.1555C>T (p.Leu519=) http://identifiers.org/clinvar/284900 ^@ NM_005097.3(LGI1):c.297A>G (p.Thr99=) http://identifiers.org/clinvar/284901 ^@ NM_005045.3(RELN):c.5002A>G (p.Met1668Val) http://identifiers.org/clinvar/284902 ^@ NM_005413.3(SIX3):c.375C>A (p.Ile125=) http://identifiers.org/clinvar/284903 ^@ NM_000302.3(PLOD1):c.327delG (p.Arg111Glyfs) http://identifiers.org/clinvar/284904 ^@ NM_175629.2(DNMT3A):c.1903C>T (p.Arg635Trp) http://identifiers.org/clinvar/284905 ^@ NM_032531.3(KIRREL3):c.2191G>A (p.Val731Ile) http://identifiers.org/clinvar/284906 ^@ NM_004004.5(GJB2):c.176_191del16 (p.Gly59Alafs) http://identifiers.org/clinvar/284907 ^@ NM_001170629.1(CHD8):c.621C>T (p.Thr207=) http://identifiers.org/clinvar/284908 ^@ NM_147127.4(EVC2):c.2517A>G (p.Ser839=) http://identifiers.org/clinvar/284909 ^@ NM_001080463.1(DYNC2H1):c.8481A>C (p.Thr2827=) http://identifiers.org/clinvar/284910 ^@ NM_000316.2(PTH1R):c.425G>A (p.Gly142Asp) http://identifiers.org/clinvar/284911 ^@ NM_006371.4(CRTAP):c.732C>T (p.Leu244=) http://identifiers.org/clinvar/284912 ^@ NM_000168.5(GLI3):c.2245A>G (p.Ile749Val) http://identifiers.org/clinvar/284913 ^@ NM_001199397.1(NEK1):c.2944A>T (p.Thr982Ser) http://identifiers.org/clinvar/284914 ^@ NM_001429.3(EP300):c.3671+5_3671+8delGTAA http://identifiers.org/clinvar/284915 ^@ NM_014140.3(SMARCAL1):c.2529-4A>G http://identifiers.org/clinvar/284916 ^@ NM_000327.3(ROM1):c.213G>A (p.Ala71=) http://identifiers.org/clinvar/284917 ^@ NM_000883.3(IMPDH1):c.681C>A (p.Ile227=) http://identifiers.org/clinvar/284918 ^@ NM_001029883.2(C2orf71):c.3778G>A (p.Gly1260Ser) http://identifiers.org/clinvar/284919 ^@ NM_057174.2(PEX16):c.812G>T (p.Arg271Leu) http://identifiers.org/clinvar/284920 ^@ NM_014008.4(CCDC22):c.1540-18T>C http://identifiers.org/clinvar/284921 ^@ NM_020533.2(MCOLN1):c.1179G>A (p.Ser393=) http://identifiers.org/clinvar/284922 ^@ NM_015702.2(MMADHC):c.371A>T (p.Gln124Leu) http://identifiers.org/clinvar/284923 ^@ NM_000456.2(SUOX):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/284924 ^@ NM_004006.2(DMD):c.457C>T (p.Gln153Ter) http://identifiers.org/clinvar/284925 ^@ NM_002335.3(LRP5):c.-8C>T http://identifiers.org/clinvar/284926 ^@ NM_002335.3(LRP5):c.9A>T (p.Ala3=) http://identifiers.org/clinvar/284927 ^@ NM_002335.3(LRP5):c.12G>A (p.Ala4=) http://identifiers.org/clinvar/284928 ^@ NM_002335.3(LRP5):c.14C>T (p.Pro5Leu) http://identifiers.org/clinvar/284929 ^@ NM_002335.3(LRP5):c.90G>A (p.Ala30=) http://identifiers.org/clinvar/284930 ^@ NM_002335.3(LRP5):c.91+13A>G http://identifiers.org/clinvar/284931 ^@ NM_002335.3(LRP5):c.91+19G>A http://identifiers.org/clinvar/284932 ^@ NM_001291858.1(IGF1R):c.1590-20T>C http://identifiers.org/clinvar/284933 ^@ NM_000232.4(SGCB):c.249A>G (p.Thr83=) http://identifiers.org/clinvar/284934 ^@ NM_001130987.1(DYSF):c.1229G>A (p.Gly410Glu) http://identifiers.org/clinvar/284935 ^@ NM_182961.3(SYNE1):c.22617C>T (p.Leu7539=) http://identifiers.org/clinvar/284936 ^@ NM_003494.3(DYSF):c.6212delC (p.Ala2071Valfs) http://identifiers.org/clinvar/284937 ^@ NM_001848.2(COL6A1):c.1814-8C>T http://identifiers.org/clinvar/284938 ^@ NM_213599.2(ANO5):c.295-7G>A http://identifiers.org/clinvar/284939 ^@ NM_001243766.1(POMGNT1):c.503C>T (p.Ala168Val) http://identifiers.org/clinvar/284940 ^@ NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) http://identifiers.org/clinvar/284941 ^@ NM_201383.2(PLEC):c.4267C>T (p.Gln1423Ter) http://identifiers.org/clinvar/284942 ^@ NM_001849.3(COL6A2):c.981C>T (p.Asn327=) http://identifiers.org/clinvar/284943 ^@ NM_001848.2(COL6A1):c.2607C>G (p.His869Gln) http://identifiers.org/clinvar/284944 ^@ NM_001848.2(COL6A1):c.3009G>A (p.Leu1003=) http://identifiers.org/clinvar/284945 ^@ NM_000023.3(SGCA):c.402C>G (p.Tyr134Ter) http://identifiers.org/clinvar/284946 ^@ NM_000070.2(CAPN3):c.633G>C (p.Lys211Asn) http://identifiers.org/clinvar/284947 ^@ NM_004006.2(DMD):c.7521C>T (p.Asn2507=) http://identifiers.org/clinvar/284948 ^@ NM_005572.3(LMNA):c.1453C>G (p.Pro485Ala) http://identifiers.org/clinvar/284949 ^@ NM_002968.2(SALL1):c.1398C>A (p.Ile466=) http://identifiers.org/clinvar/284950 ^@ NM_001079515.2(TBCE):c.194C>A (p.Thr65Lys) http://identifiers.org/clinvar/284951 ^@ NM_006037.3(HDAC4):c.1095+10C>G http://identifiers.org/clinvar/284952 ^@ NM_024408.3(NOTCH2):c.3305A>G (p.Asn1102Ser) http://identifiers.org/clinvar/284953 ^@ NM_000138.4(FBN1):c.980G>C (p.Arg327Thr) http://identifiers.org/clinvar/284954 ^@ NM_001025295.2(IFITM5):c.117G>C (p.Trp39Cys) http://identifiers.org/clinvar/284955 ^@ NM_153717.2(EVC):c.1807G>A (p.Val603Met) http://identifiers.org/clinvar/284956 ^@ NM_003722.4(TP63):c.1827A>G (p.Glu609=) http://identifiers.org/clinvar/284957 ^@ NM_001173467.2(SP7):c.*4G>A http://identifiers.org/clinvar/284958 ^@ NM_080680.2(COL11A2):c.1382G>A (p.Gly461Asp) http://identifiers.org/clinvar/284959 ^@ NM_006208.2(ENPP1):c.1437+9_1437+12delCTTT http://identifiers.org/clinvar/284960 ^@ NM_153819.1(RASGRP2):c.1592-3C>A http://identifiers.org/clinvar/284961 ^@ NM_003839.3(TNFRSF11A):c.423C>T (p.His141=) http://identifiers.org/clinvar/284962 ^@ NM_001457.3(FLNB):c.6154C>T (p.Leu2052=) http://identifiers.org/clinvar/284963 ^@ NM_020754.3(ARHGAP31):c.2364A>T (p.Pro788=) http://identifiers.org/clinvar/284964 ^@ NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) http://identifiers.org/clinvar/284965 ^@ NM_004369.3(COL6A3):c.1022G>A (p.Arg341His) http://identifiers.org/clinvar/284966 ^@ NM_004369.3(COL6A3):c.3499A>T (p.Ile1167Phe) http://identifiers.org/clinvar/284967 ^@ NM_004369.3(COL6A3):c.8270G>C (p.Arg2757Thr) http://identifiers.org/clinvar/284968 ^@ NM_004369.3(COL6A3):c.3228C>G (p.Thr1076=) http://identifiers.org/clinvar/284969 ^@ NM_033071.3(SYNE1):c.4319C>T (p.Thr1440Met) http://identifiers.org/clinvar/284970 ^@ NM_013382.5(POMT2):c.1871G>A (p.Arg624Gln) http://identifiers.org/clinvar/284971 ^@ NM_000231.2(SGCG):c.8G>A (p.Arg3His) http://identifiers.org/clinvar/284972 ^@ NM_001128227.2(GNE):c.1369A>C (p.Met457Leu) http://identifiers.org/clinvar/284973 ^@ NM_001849.3(COL6A2):c.2556C>T (p.Ala852=) http://identifiers.org/clinvar/284974 ^@ NM_033071.3(SYNE1):c.22245T>G (p.Asn7415Lys) http://identifiers.org/clinvar/284975 ^@ NM_024301.4(FKRP):c.43A>C (p.Thr15Pro) http://identifiers.org/clinvar/284976 ^@ NM_001849.3(COL6A2):c.*5G>A http://identifiers.org/clinvar/284977 ^@ NM_000231.2(SGCG):c.803C>T (p.Pro268Leu) http://identifiers.org/clinvar/284978 ^@ NM_004006.2(DMD):c.7065C>A (p.Asn2355Lys) http://identifiers.org/clinvar/284979 ^@ NM_001540.3(HSPB1):c.417G>A (p.Thr139=) http://identifiers.org/clinvar/284980 ^@ NM_013227.3(ACAN):c.1809T>C (p.Ala603=) http://identifiers.org/clinvar/284981 ^@ NM_000155.3(GALT):c.564+7G>A http://identifiers.org/clinvar/284982 ^@ NM_001190415.1(TAF6):c.22_25delACAA (p.Thr8Serfs) http://identifiers.org/clinvar/284983 ^@ NM_001305424.1(FMN2):c.2833G>A (p.Gly945Arg) http://identifiers.org/clinvar/284984 ^@ NM_000426.3(LAMA2):c.4048C>T (p.Arg1350Ter) http://identifiers.org/clinvar/284985 ^@ NM_017534.5(MYH2):c.3000G>A (p.Lys1000=) http://identifiers.org/clinvar/284986 ^@ NM_000089.3(COL1A2):c.808G>A (p.Val270Ile) http://identifiers.org/clinvar/284987 ^@ NM_001127464.2(ZNF469):c.4745G>A (p.Arg1582His) http://identifiers.org/clinvar/284988 ^@ NM_001844.4(COL2A1):c.1634A>G (p.Asn545Ser) http://identifiers.org/clinvar/284989 ^@ NM_001999.3(FBN2):c.3162C>T (p.Arg1054=) http://identifiers.org/clinvar/284990 ^@ NM_004082.4(DCTN1):c.3529+5G>A http://identifiers.org/clinvar/284991 ^@ NM_001267550.2(TTN):c.61962C>T (p.Ile20654=) http://identifiers.org/clinvar/284992 ^@ NM_133379.4(TTN):c.732C>T (p.Ala244=) http://identifiers.org/clinvar/284993 ^@ NM_001849.3(COL6A2):c.729C>T (p.Tyr243=) http://identifiers.org/clinvar/284994 ^@ NM_002206.2(ITGA7):c.287T>G (p.Leu96Trp) http://identifiers.org/clinvar/284995 ^@ NM_001558.3(IL10RA):c.170A>G (p.Tyr57Cys) http://identifiers.org/clinvar/284996 ^@ NM_000271.4(NPC1):c.3477+4A>G http://identifiers.org/clinvar/284997 ^@ NM_153240.4(NPHP3):c.393+7C>G http://identifiers.org/clinvar/284998 ^@ NM_012254.2(SLC27A5):c.2006C>G (p.Ala669Gly) http://identifiers.org/clinvar/284999 ^@ NM_015102.4(NPHP4):c.1445C>T (p.Pro482Leu) http://identifiers.org/clinvar/285000 ^@ NM_000466.2(PEX1):c.637C>T (p.Leu213Phe) http://identifiers.org/clinvar/285001 ^@ NM_001193315.1(VIPAS39):c.494G>A (p.Arg165Gln) http://identifiers.org/clinvar/285002 ^@ NM_000466.2(PEX1):c.468A>G (p.Gln156=) http://identifiers.org/clinvar/285003 ^@ NM_000284.3(PDHA1):c.507G>A (p.Ala169=) http://identifiers.org/clinvar/285004 ^@ NM_015185.2(ARHGEF9):c.1092C>T (p.Gly364=) http://identifiers.org/clinvar/285005 ^@ NM_139125.3(MASP1):c.1779G>A (p.Trp593Ter) http://identifiers.org/clinvar/285006 ^@ NM_139125.3(MASP1):c.1746G>A (p.Pro582=) http://identifiers.org/clinvar/285007 ^@ NM_001927.3(DES):c.373A>T (p.Lys125Ter) http://identifiers.org/clinvar/285008 ^@ NM_001003722.1(GLE1):c.433-13_433-10delAAAA http://identifiers.org/clinvar/285009 ^@ NM_000540.2(RYR1):c.14344G>A (p.Gly4782Arg) http://identifiers.org/clinvar/285010 ^@ NM_201378.3(PLEC):c.13437G>A (p.Ser4479=) http://identifiers.org/clinvar/285011 ^@ NM_201381.2(PLEC):c.6330C>T (p.Ala2110=) http://identifiers.org/clinvar/285012 ^@ NM_006493.2(CLN5):c.299G>A (p.Arg100His) http://identifiers.org/clinvar/285013 ^@ NM_002241.4(KCNJ10):c.435G>T (p.Val145=) http://identifiers.org/clinvar/285014 ^@ NM_003482.3(KMT2D):c.2551C>T (p.Leu851=) http://identifiers.org/clinvar/285015 ^@ NM_002485.4(NBN):c.432A>G (p.Thr144=) http://identifiers.org/clinvar/285016 ^@ NM_003482.3(KMT2D):c.840-6C>T http://identifiers.org/clinvar/285017 ^@ NM_004380.2(CREBBP):c.833A>C (p.Gln278Pro) http://identifiers.org/clinvar/285018 ^@ NM_004006.2(DMD):c.3794G>C (p.Trp1265Ser) http://identifiers.org/clinvar/285019 ^@ NM_017890.4(VPS13B):c.2825-4T>A http://identifiers.org/clinvar/285020 ^@ NM_024757.4(EHMT1):c.2970G>T (p.Gln990His) http://identifiers.org/clinvar/285021 ^@ NM_000489.4(ATRX):c.4224G>A (p.Lys1408=) http://identifiers.org/clinvar/285022 ^@ NM_001111.4(ADAR):c.2553C>T (p.Cys851=) http://identifiers.org/clinvar/285023 ^@ NM_000430.3(PAFAH1B1):c.570C>T (p.Gly190=) http://identifiers.org/clinvar/285024 ^@ NM_004385.4(VCAN):c.1458G>T (p.Ser486=) http://identifiers.org/clinvar/285025 ^@ NM_001851.4(COL9A1):c.2076A>G (p.Glu692=) http://identifiers.org/clinvar/285026 ^@ NM_182896.2(ARL13B):c.593A>G (p.Asn198Ser) http://identifiers.org/clinvar/285027 ^@ NM_001453.2(FOXC1):c.887C>G (p.Ala296Gly) http://identifiers.org/clinvar/285028 ^@ NM_001793.5(CDH3):c.805A>C (p.Met269Leu) http://identifiers.org/clinvar/285029 ^@ NM_001123385.1(BCOR):c.3847+7G>A http://identifiers.org/clinvar/285030 ^@ NM_033100.3(CDHR1):c.2176C>T (p.Arg726Cys) http://identifiers.org/clinvar/285031 ^@ NM_182894.2(VSX2):c.244G>A (p.Gly82Arg) http://identifiers.org/clinvar/285032 ^@ NM_002900.2(RBP3):c.1928C>T (p.Thr643Ile) http://identifiers.org/clinvar/285033 ^@ NM_000883.3(IMPDH1):c.1623C>T (p.Phe541=) http://identifiers.org/clinvar/285034 ^@ NM_001029883.2(C2orf71):c.99G>A (p.Gln33=) http://identifiers.org/clinvar/285035 ^@ NM_000327.3(ROM1):c.342C>T (p.Leu114=) http://identifiers.org/clinvar/285036 ^@ NM_025074.6(FRAS1):c.3523G>A (p.Glu1175Lys) http://identifiers.org/clinvar/285037 ^@ NM_206933.2(USH2A):c.12455A>G (p.Glu4152Gly) http://identifiers.org/clinvar/285038 ^@ NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) http://identifiers.org/clinvar/285039 ^@ NM_198525.2(KIF7):c.1077C>G (p.Pro359=) http://identifiers.org/clinvar/285040 ^@ NM_032119.3(ADGRV1):c.7806C>G (p.Pro2602=) http://identifiers.org/clinvar/285041 ^@ NM_000048.3(ASL):c.207G>A (p.Lys69=) http://identifiers.org/clinvar/285042 ^@ NM_001127464.2(ZNF469):c.4335T>G (p.Ser1445=) http://identifiers.org/clinvar/285043 ^@ NM_000525.3(KCNJ11):c.80G>A (p.Arg27His) http://identifiers.org/clinvar/285044 ^@ NM_000440.2(PDE6A):c.784G>A (p.Ala262Thr) http://identifiers.org/clinvar/285045 ^@ NM_000448.2(RAG1):c.256_257delAA (p.Lys86Valfs) http://identifiers.org/clinvar/285046 ^@ NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) http://identifiers.org/clinvar/285047 ^@ NM_000117.2(EMD):c.525C>T (p.Ser175=) http://identifiers.org/clinvar/285048 ^@ NM_007171.3(POMT1):c.345G>A (p.Ser115=) http://identifiers.org/clinvar/285049 ^@ NM_012470.3(TNPO3):c.1549T>G (p.Ser517Ala) http://identifiers.org/clinvar/285050 ^@ NM_004369.3(COL6A3):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/285051 ^@ NM_182961.3(SYNE1):c.15880A>G (p.Met5294Val) http://identifiers.org/clinvar/285052 ^@ NM_033071.3(SYNE1):c.26154A>G (p.Pro8718=) http://identifiers.org/clinvar/285053 ^@ NM_003494.3(DYSF):c.4168-8C>T http://identifiers.org/clinvar/285054 ^@ NM_000231.2(SGCG):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/285055 ^@ NM_007171.3(POMT1):c.1192G>A (p.Gly398Arg) http://identifiers.org/clinvar/285056 ^@ NM_001130987.1(DYSF):c.397C>T (p.Leu133=) http://identifiers.org/clinvar/285057 ^@ NM_033071.3(SYNE1):c.11385G>A (p.Thr3795=) http://identifiers.org/clinvar/285058 ^@ NM_004369.3(COL6A3):c.8243C>T (p.Pro2748Leu) http://identifiers.org/clinvar/285059 ^@ NM_004369.3(COL6A3):c.1350G>A (p.Val450=) http://identifiers.org/clinvar/285060 ^@ NM_001848.2(COL6A1):c.667G>A (p.Asp223Asn) http://identifiers.org/clinvar/285061 ^@ NM_003494.3(DYSF):c.6057-8G>A http://identifiers.org/clinvar/285062 ^@ NM_004369.3(COL6A3):c.4141A>T (p.Ile1381Phe) http://identifiers.org/clinvar/285063 ^@ NM_001130987.1(DYSF):c.1407G>A (p.Thr469=) http://identifiers.org/clinvar/285064 ^@ NM_001848.2(COL6A1):c.2765A>G (p.Tyr922Cys) http://identifiers.org/clinvar/285065 ^@ NM_182961.3(SYNE1):c.2630A>G (p.Gln877Arg) http://identifiers.org/clinvar/285066 ^@ NM_001101426.3(ISPD):c.320G>T (p.Ser107Ile) http://identifiers.org/clinvar/285067 ^@ NM_013382.5(POMT2):c.295C>T (p.Arg99Cys) http://identifiers.org/clinvar/285068 ^@ NM_033071.3(SYNE1):c.19301dupA (p.Tyr6434Terfs) http://identifiers.org/clinvar/285069 ^@ NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) http://identifiers.org/clinvar/285070 ^@ NM_001848.2(COL6A1):c.311C>T (p.Thr104Met) http://identifiers.org/clinvar/285071 ^@ NM_213599.2(ANO5):c.525C>G (p.Leu175=) http://identifiers.org/clinvar/285072 ^@ NM_182961.3(SYNE1):c.24784G>A (p.Ala8262Thr) http://identifiers.org/clinvar/285073 ^@ NM_182914.2(SYNE2):c.13792G>A (p.Glu4598Lys) http://identifiers.org/clinvar/285074 ^@ NM_001159702.2(FHL1):c.361G>A (p.Val121Ile) http://identifiers.org/clinvar/285075 ^@ NM_033071.3(SYNE1):c.10198A>G (p.Ser3400Gly) http://identifiers.org/clinvar/285076 ^@ NM_012210.3(TRIM32):c.1140C>T (p.Thr380=) http://identifiers.org/clinvar/285077 ^@ NM_033071.3(SYNE1):c.17995G>A (p.Glu5999Lys) http://identifiers.org/clinvar/285078 ^@ NM_001848.2(COL6A1):c.1708G>A (p.Ala570Thr) http://identifiers.org/clinvar/285079 ^@ NM_201379.2(PLEC):c.9463G>A (p.Asp3155Asn) http://identifiers.org/clinvar/285080 ^@ NM_033071.3(SYNE1):c.10492G>A (p.Val3498Ile) http://identifiers.org/clinvar/285082 ^@ NM_000202.7(IDS):c.1591C>T (p.Gln531Ter) http://identifiers.org/clinvar/285083 ^@ NM_004380.2(CREBBP):c.5597G>A (p.Arg1866His) http://identifiers.org/clinvar/285084 ^@ NM_002181.3(IHH):c.618C>T (p.Ala206=) http://identifiers.org/clinvar/285085 ^@ NM_015384.4(NIPBL):c.3978T>C (p.Ala1326=) http://identifiers.org/clinvar/285086 ^@ NM_020754.3(ARHGAP31):c.4096G>A (p.Val1366Met) http://identifiers.org/clinvar/285087 ^@ NM_001849.3(COL6A2):c.1560C>G (p.Pro520=) http://identifiers.org/clinvar/285088 ^@ NM_000540.2(RYR1):c.14639T>A (p.Met4880Lys) http://identifiers.org/clinvar/285089 ^@ NM_001271208.1(NEB):c.17838G>A (p.Gln5946=) http://identifiers.org/clinvar/285090 ^@ NM_001271208.1(NEB):c.17061C>G (p.Val5687=) http://identifiers.org/clinvar/285091 ^@ NM_000426.3(LAMA2):c.6426T>C (p.Asn2142=) http://identifiers.org/clinvar/285092 ^@ NM_002206.2(ITGA7):c.1008C>T (p.Asp336=) http://identifiers.org/clinvar/285093 ^@ NM_012232.5(CAVIN1):c.909C>A (p.Pro303=) http://identifiers.org/clinvar/285094 ^@ NM_000252.2(MTM1):c.339T>C (p.Cys113=) http://identifiers.org/clinvar/285095 ^@ NM_033071.3(SYNE1):c.8567T>C (p.Val2856Ala) http://identifiers.org/clinvar/285096 ^@ NM_173660.4(DOK7):c.1295G>A (p.Arg432Lys) http://identifiers.org/clinvar/285097 ^@ NM_001927.3(DES):c.822C>T (p.Leu274=) http://identifiers.org/clinvar/285098 ^@ NM_173660.4(DOK7):c.161G>A (p.Arg54His) http://identifiers.org/clinvar/285099 ^@ NM_033071.3(SYNE1):c.6967A>G (p.Ile2323Val) http://identifiers.org/clinvar/285100 ^@ NM_001003722.1(GLE1):c.178A>G (p.Met60Val) http://identifiers.org/clinvar/285101 ^@ NM_001271208.1(NEB):c.403G>A (p.Val135Ile) http://identifiers.org/clinvar/285102 ^@ NM_000334.4(SCN4A):c.963C>T (p.Asn321=) http://identifiers.org/clinvar/285103 ^@ NM_000426.3(LAMA2):c.5518G>A (p.Asp1840Asn) http://identifiers.org/clinvar/285104 ^@ NM_033071.3(SYNE1):c.15907A>C (p.Ile5303Leu) http://identifiers.org/clinvar/285105 ^@ NM_001499.2(GLE1):c.127C>T (p.Pro43Ser) http://identifiers.org/clinvar/285106 ^@ NM_001267550.2(TTN):c.82539C>T (p.Gly27513=) http://identifiers.org/clinvar/285107 ^@ NM_020984.3(CHAT):c.1314C>T (p.Ser438=) http://identifiers.org/clinvar/285108 ^@ NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) http://identifiers.org/clinvar/285109 ^@ NM_147127.4(EVC2):c.92T>C (p.Leu31Pro) http://identifiers.org/clinvar/285110 ^@ NM_001127179.2(MYO7A):c.3520G>A (p.Gly1174Arg) http://identifiers.org/clinvar/285111 ^@ NM_001142769.1(PCDH15):c.4501_4503delGAA (p.Glu1501del) http://identifiers.org/clinvar/285112 ^@ NM_023073.3(C5orf42):c.532_534delAAA (p.Lys178del) http://identifiers.org/clinvar/285113 ^@ NM_014956.4(CEP164):c.1438C>T (p.Arg480Trp) http://identifiers.org/clinvar/285114 ^@ NM_138694.3(PKHD1):c.2244G>A (p.Ala748=) http://identifiers.org/clinvar/285115 ^@ NM_014141.5(CNTNAP2):c.3180G>A (p.Ala1060=) http://identifiers.org/clinvar/285116 ^@ NM_003907.2(EIF2B5):c.241G>A (p.Glu81Lys) http://identifiers.org/clinvar/285117 ^@ NM_144577.3(CCDC114):c.1778C>T (p.Ala593Val) http://identifiers.org/clinvar/285118 ^@ NM_005709.3(USH1C):c.880C>T (p.Arg294Trp) http://identifiers.org/clinvar/285119 ^@ NM_006015.4(ARID1A):c.1175C>A (p.Pro392His) http://identifiers.org/clinvar/285120 ^@ NM_033225.5(CSMD1):c.6343C>G (p.Pro2115Ala) http://identifiers.org/clinvar/285121 ^@ NM_030662.3(MAP2K2):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/285122 ^@ NM_005572.3(LMNA):c.694G>A (p.Gly232Arg) http://identifiers.org/clinvar/285123 ^@ NM_001130987.1(DYSF):c.3678C>G (p.Ile1226Met) http://identifiers.org/clinvar/285124 ^@ NM_213599.2(ANO5):c.276A>G (p.Lys92=) http://identifiers.org/clinvar/285125 ^@ NM_001848.2(COL6A1):c.602G>C (p.Ser201Thr) http://identifiers.org/clinvar/285126 ^@ NM_015295.2(SMCHD1):c.279T>G (p.Asp93Glu) http://identifiers.org/clinvar/285127 ^@ NM_004006.2(DMD):c.2988A>G (p.Leu996=) http://identifiers.org/clinvar/285128 ^@ NM_001849.3(COL6A2):c.2904C>T (p.Asn968=) http://identifiers.org/clinvar/285129 ^@ NM_000445.4(PLEC):c.1896+5G>T http://identifiers.org/clinvar/285130 ^@ NM_000231.2(SGCG):c.596G>A (p.Arg199Gln) http://identifiers.org/clinvar/285131 ^@ NM_004006.2(DMD):c.243G>A (p.Leu81=) http://identifiers.org/clinvar/285132 ^@ NM_000117.2(EMD):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/285133 ^@ NM_003494.3(DYSF):c.6056G>A (p.Arg2019Lys) http://identifiers.org/clinvar/285134 ^@ NM_058246.3(DNAJB6):c.510G>A (p.Gly170=) http://identifiers.org/clinvar/285135 ^@ NM_000266.3(NDP):c.325C>T (p.Arg109Ter) http://identifiers.org/clinvar/285136 ^@ NM_182961.3(SYNE1):c.12575T>C (p.Ile4192Thr) http://identifiers.org/clinvar/285137 ^@ NM_001849.3(COL6A2):c.1053+6G>A http://identifiers.org/clinvar/285138 ^@ NM_000070.2(CAPN3):c.1585G>A (p.Ala529Thr) http://identifiers.org/clinvar/285139 ^@ NM_182961.3(SYNE1):c.17997G>C (p.Gln5999His) http://identifiers.org/clinvar/285140 ^@ NM_000070.2(CAPN3):c.476A>G (p.Tyr159Cys) http://identifiers.org/clinvar/285141 ^@ NM_004006.2(DMD):c.265-9_265-6delCTTT http://identifiers.org/clinvar/285142 ^@ NM_033071.3(SYNE1):c.20433G>A (p.Ser6811=) http://identifiers.org/clinvar/285143 ^@ NM_001130987.1(DYSF):c.5424C>T (p.Pro1808=) http://identifiers.org/clinvar/285144 ^@ NM_182961.3(SYNE1):c.23164G>T (p.Gly7722Trp) http://identifiers.org/clinvar/285145 ^@ NM_000070.2(CAPN3):c.360C>A (p.Asp120Glu) http://identifiers.org/clinvar/285146 ^@ NM_033071.3(SYNE1):c.20744G>A (p.Arg6915His) http://identifiers.org/clinvar/285147 ^@ NM_004369.3(COL6A3):c.5680C>T (p.Pro1894Ser) http://identifiers.org/clinvar/285148 ^@ NM_001130987.1(DYSF):c.559G>A (p.Gly187Arg) http://identifiers.org/clinvar/285149 ^@ NM_001848.2(COL6A1):c.2250+6G>C http://identifiers.org/clinvar/285150 ^@ NM_013382.5(POMT2):c.66C>T (p.Gly22=) http://identifiers.org/clinvar/285151 ^@ NM_033071.3(SYNE1):c.25431G>A (p.Ser8477=) http://identifiers.org/clinvar/285152 ^@ NM_001130987.1(DYSF):c.5726G>A (p.Arg1909Lys) http://identifiers.org/clinvar/285153 ^@ NM_001130987.1(DYSF):c.4282C>T (p.Gln1428Ter) http://identifiers.org/clinvar/285154 ^@ NM_001130987.1(DYSF):c.1371G>C (p.Ala457=) http://identifiers.org/clinvar/285155 ^@ NM_033071.3(SYNE1):c.23765+6C>A http://identifiers.org/clinvar/285156 ^@ NM_017739.3(POMGNT1):c.461C>T (p.Pro154Leu) http://identifiers.org/clinvar/285157 ^@ NM_000152.4(GAA):c.1447G>A (p.Gly483Arg) http://identifiers.org/clinvar/285158 ^@ NM_000337.5(SGCD):c.65dupT (p.Tyr23Ilefs) http://identifiers.org/clinvar/285159 ^@ NM_001130987.1(DYSF):c.4474G>A (p.Gly1492Ser) http://identifiers.org/clinvar/285160 ^@ NM_000232.4(SGCB):c.502A>G (p.Met168Val) http://identifiers.org/clinvar/285161 ^@ NM_033071.3(SYNE1):c.3996G>A (p.Glu1332=) http://identifiers.org/clinvar/285162 ^@ NM_000152.4(GAA):c.2656G>A (p.Val886Met) http://identifiers.org/clinvar/285163 ^@ NM_182961.3(SYNE1):c.12698A>G (p.Glu4233Gly) http://identifiers.org/clinvar/285164 ^@ NM_000117.2(EMD):c.149C>A (p.Pro50His) http://identifiers.org/clinvar/285165 ^@ NM_182914.2(SYNE2):c.12984A>G (p.Lys4328=) http://identifiers.org/clinvar/285166 ^@ NM_001130987.1(DYSF):c.3855G>C (p.Ser1285=) http://identifiers.org/clinvar/285167 ^@ NM_012470.3(TNPO3):c.1367A>G (p.Asn456Ser) http://identifiers.org/clinvar/285168 ^@ NM_004369.3(COL6A3):c.7754A>G (p.His2585Arg) http://identifiers.org/clinvar/285169 ^@ NM_006031.5(PCNT):c.3166-2A>C http://identifiers.org/clinvar/285170 ^@ NM_003793.3(CTSF):c.1133A>G (p.Asn378Ser) http://identifiers.org/clinvar/285171 ^@ NM_001813.2(CENPE):c.7222C>A (p.Gln2408Lys) http://identifiers.org/clinvar/285172 ^@ NM_173653.3(SLC9A9):c.540delT (p.Met181Cysfs) http://identifiers.org/clinvar/285173 ^@ NM_004523.3(KIF11):c.2914A>G (p.Thr972Ala) http://identifiers.org/clinvar/285174 ^@ NM_007171.3(POMT1):c.1319C>T (p.Ala440Val) http://identifiers.org/clinvar/285175 ^@ NM_033071.3(SYNE1):c.22612-9T>C http://identifiers.org/clinvar/285176 ^@ NM_015295.2(SMCHD1):c.1290T>C (p.His430=) http://identifiers.org/clinvar/285177 ^@ NM_001130987.1(DYSF):c.1577-1G>A http://identifiers.org/clinvar/285178 ^@ NM_001849.3(COL6A2):c.1521+4C>T http://identifiers.org/clinvar/285179 ^@ NM_001849.3(COL6A2):c.2907G>A (p.Val969=) http://identifiers.org/clinvar/285180 ^@ NM_000232.4(SGCB):c.188A>G (p.Asn63Ser) http://identifiers.org/clinvar/285181 ^@ NM_000070.2(CAPN3):c.7A>G (p.Thr3Ala) http://identifiers.org/clinvar/285182 ^@ NM_015295.2(SMCHD1):c.5411T>C (p.Ile1804Thr) http://identifiers.org/clinvar/285183 ^@ NM_004369.3(COL6A3):c.774C>T (p.Phe258=) http://identifiers.org/clinvar/285184 ^@ NM_001927.3(DES):c.817G>T (p.Ala273Ser) http://identifiers.org/clinvar/285185 ^@ NM_182961.3(SYNE1):c.23296C>T (p.His7766Tyr) http://identifiers.org/clinvar/285186 ^@ NM_033071.3(SYNE1):c.11151T>C (p.Ala3717=) http://identifiers.org/clinvar/285187 ^@ NM_033071.3(SYNE1):c.8356A>C (p.Ile2786Leu) http://identifiers.org/clinvar/285188 ^@ NM_058246.3(DNAJB6):c.184C>T (p.Arg62Trp) http://identifiers.org/clinvar/285189 ^@ NM_001267550.2(TTN):c.53287+3A>G http://identifiers.org/clinvar/285190 ^@ NM_004369.3(COL6A3):c.9005A>G (p.Glu3002Gly) http://identifiers.org/clinvar/285191 ^@ NM_182961.3(SYNE1):c.11136A>T (p.Ser3712=) http://identifiers.org/clinvar/285192 ^@ NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) http://identifiers.org/clinvar/285193 ^@ NM_001849.3(COL6A2):c.791G>A (p.Arg264His) http://identifiers.org/clinvar/285194 ^@ NM_033071.3(SYNE1):c.16325G>A (p.Arg5442Lys) http://identifiers.org/clinvar/285195 ^@ NM_004006.2(DMD):c.5739+1G>T http://identifiers.org/clinvar/285196 ^@ NM_004369.3(COL6A3):c.7768A>G (p.Ile2590Val) http://identifiers.org/clinvar/285197 ^@ NM_000152.4(GAA):c.2297A>G (p.Tyr766Cys) http://identifiers.org/clinvar/285198 ^@ NM_182961.3(SYNE1):c.10257T>C (p.His3419=) http://identifiers.org/clinvar/285199 ^@ NM_213599.2(ANO5):c.1165T>C (p.Phe389Leu) http://identifiers.org/clinvar/285200 ^@ NM_003494.3(DYSF):c.3071C>T (p.Pro1024Leu) http://identifiers.org/clinvar/285201 ^@ NM_004369.3(COL6A3):c.3238T>A (p.Phe1080Ile) http://identifiers.org/clinvar/285202 ^@ NM_015346.3(ZFYVE26):c.5800G>A (p.Ala1934Thr) http://identifiers.org/clinvar/285203 ^@ NM_024120.4(NDUFAF5):c.775C>T (p.Gln259Ter) http://identifiers.org/clinvar/285204 ^@ NM_020365.4(EIF2B3):c.32G>T (p.Gly11Val) http://identifiers.org/clinvar/285205 ^@ NM_018082.5(POLR3B):c.1244T>C (p.Met415Thr) http://identifiers.org/clinvar/285206 ^@ NM_005461.4(MAFB):c.362T>C (p.Leu121Pro) http://identifiers.org/clinvar/285207 ^@ NM_001001547.2(CD36):c.1155delA (p.Lys385Asnfs) http://identifiers.org/clinvar/285208 ^@ NM_144670.5(A2ML1):c.2416T>C (p.Phe806Leu) http://identifiers.org/clinvar/285209 ^@ NM_152443.2(RDH12):c.869T>G (p.Val290Gly) http://identifiers.org/clinvar/285210 ^@ NM_000282.3(PCCA):c.2118+1G>A http://identifiers.org/clinvar/285212 ^@ NM_133433.3(NIPBL):c.3855+2T>C http://identifiers.org/clinvar/285213 ^@ NM_005609.3(PYGM):c.1083C>T (p.Asp361=) http://identifiers.org/clinvar/285214 ^@ NM_033071.3(SYNE1):c.17316C>G (p.Pro5772=) http://identifiers.org/clinvar/285215 ^@ NM_004006.2(DMD):c.2518C>A (p.Gln840Lys) http://identifiers.org/clinvar/285216 ^@ NM_004369.3(COL6A3):c.5634C>T (p.Ser1878=) http://identifiers.org/clinvar/285217 ^@ NM_004006.2(DMD):c.3237G>A (p.Gly1079=) http://identifiers.org/clinvar/285218 ^@ NM_000070.2(CAPN3):c.763G>A (p.Ala255Thr) http://identifiers.org/clinvar/285219 ^@ NM_004006.2(DMD):c.1809G>A (p.Leu603=) http://identifiers.org/clinvar/285220 ^@ NM_004006.2(DMD):c.2949+4dupT http://identifiers.org/clinvar/285221 ^@ NM_213599.2(ANO5):c.1364G>A (p.Arg455His) http://identifiers.org/clinvar/285222 ^@ NM_013382.5(POMT2):c.621G>A (p.Met207Ile) http://identifiers.org/clinvar/285223 ^@ NM_033071.3(SYNE1):c.16532A>T (p.Glu5511Val) http://identifiers.org/clinvar/285224 ^@ NM_013382.5(POMT2):c.1033G>C (p.Val345Leu) http://identifiers.org/clinvar/285225 ^@ NM_000070.2(CAPN3):c.1115+8A>G http://identifiers.org/clinvar/285226 ^@ NM_000023.3(SGCA):c.402C>T (p.Tyr134=) http://identifiers.org/clinvar/285227 ^@ NM_012210.3(TRIM32):c.467T>C (p.Leu156Pro) http://identifiers.org/clinvar/285228 ^@ NM_012210.3(TRIM32):c.1856C>G (p.Pro619Arg) http://identifiers.org/clinvar/285229 ^@ NM_033071.3(SYNE1):c.13654C>A (p.Gln4552Lys) http://identifiers.org/clinvar/285230 ^@ NM_004006.2(DMD):c.10623C>T (p.Ser3541=) http://identifiers.org/clinvar/285231 ^@ NM_201381.2(PLEC):c.8346C>T (p.Gly2782=) http://identifiers.org/clinvar/285232 ^@ NM_004006.2(DMD):c.3238delG (p.Asp1080Ilefs) http://identifiers.org/clinvar/285233 ^@ NM_001849.3(COL6A2):c.1129C>T (p.Arg377Cys) http://identifiers.org/clinvar/285234 ^@ NM_001243766.1(POMGNT1):c.706G>C (p.Asp236His) http://identifiers.org/clinvar/285235 ^@ NM_000231.2(SGCG):c.506-7T>G http://identifiers.org/clinvar/285236 ^@ NM_033071.3(SYNE1):c.9441G>A (p.Ala3147=) http://identifiers.org/clinvar/285237 ^@ NM_001159702.2(FHL1):c.596G>A (p.Arg199His) http://identifiers.org/clinvar/285238 ^@ NM_005529.6(HSPG2):c.8910+7G>C http://identifiers.org/clinvar/285239 ^@ NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) http://identifiers.org/clinvar/285240 ^@ NM_003640.4(IKBKAP):c.208C>T (p.Arg70Cys) http://identifiers.org/clinvar/285241 ^@ NM_014363.5(SACS):c.7140T>A (p.Asn2380Lys) http://identifiers.org/clinvar/285242 ^@ NM_020533.2(MCOLN1):c.882C>T (p.Asp294=) http://identifiers.org/clinvar/285243 ^@ NM_014363.5(SACS):c.8022T>C (p.Phe2674=) http://identifiers.org/clinvar/285244 ^@ NM_000227.4(LAMA3):c.2678A>G (p.Asn893Ser) http://identifiers.org/clinvar/285245 ^@ NM_138694.3(PKHD1):c.9478C>T (p.His3160Tyr) http://identifiers.org/clinvar/285246 ^@ NM_000252.2(MTM1):c.444+1G>A http://identifiers.org/clinvar/285247 ^@ NM_001271208.1(NEB):c.25177C>T (p.Arg8393Cys) http://identifiers.org/clinvar/285248 ^@ NM_001848.2(COL6A1):c.2856C>T (p.Pro952=) http://identifiers.org/clinvar/285249 ^@ NM_001267550.2(TTN):c.76349G>A (p.Gly25450Asp) http://identifiers.org/clinvar/285250 ^@ NM_000540.2(RYR1):c.4230C>T (p.Leu1410=) http://identifiers.org/clinvar/285251 ^@ NM_001849.3(COL6A2):c.955-10C>T http://identifiers.org/clinvar/285252 ^@ NM_173660.4(DOK7):c.652+7G>A http://identifiers.org/clinvar/285253 ^@ NM_006059.3(LAMC3):c.2438_2439delGCinsAG (p.Ser813Lys) http://identifiers.org/clinvar/285254 ^@ NM_000346.3(SOX9):c.1092G>A (p.Ala364=) http://identifiers.org/clinvar/285255 ^@ NM_005045.3(RELN):c.6458G>A (p.Gly2153Asp) http://identifiers.org/clinvar/285256 ^@ NM_004565.2(PEX14):c.474C>T (p.Ser158=) http://identifiers.org/clinvar/285257 ^@ NM_000097.5(CPOX):c.37T>G (p.Cys13Gly) http://identifiers.org/clinvar/285258 ^@ NM_001966.3(EHHADH):c.1447C>T (p.Arg483Ter) http://identifiers.org/clinvar/285259 ^@ NM_003494.3(DYSF):c.5714G>A (p.Arg1905Gln) http://identifiers.org/clinvar/285260 ^@ NM_000232.4(SGCB):c.346A>G (p.Met116Val) http://identifiers.org/clinvar/285261 ^@ NM_031885.3(BBS2):c.209A= (p.Asn70=) http://identifiers.org/clinvar/285262 ^@ NM_000441.1(SLC26A4):c.1222delT (p.Ser408Profs) http://identifiers.org/clinvar/285263 ^@ NM_031885.3(BBS2):c.118G>T (p.Val40Phe) http://identifiers.org/clinvar/285264 ^@ NM_019098.4(CNGB3):c.474C>T (p.Pro158=) http://identifiers.org/clinvar/285265 ^@ NM_006180.4(NTRK2):c.2113C>T (p.Leu705=) http://identifiers.org/clinvar/285266 ^@ NM_007255.2(B4GALT7):c.411C>T (p.Phe137=) http://identifiers.org/clinvar/285267 ^@ NM_014140.3(SMARCAL1):c.810T>C (p.Tyr270=) http://identifiers.org/clinvar/285268 ^@ NM_001845.5(COL4A1):c.3591C>T (p.Ala1197=) http://identifiers.org/clinvar/285269 ^@ NM_144966.5(FREM1):c.1464C>T (p.Ser488=) http://identifiers.org/clinvar/285270 ^@ NM_006204.3(PDE6C):c.1936-9A>G http://identifiers.org/clinvar/285271 ^@ NM_001298.2(CNGA3):c.458C>T (p.Thr153Met) http://identifiers.org/clinvar/285272 ^@ NM_001004334.3(GPR179):c.415G>A (p.Glu139Lys) http://identifiers.org/clinvar/285273 ^@ NM_018941.3(CLN8):c.838C>T (p.Leu280=) http://identifiers.org/clinvar/285274 ^@ NM_018718.2(CEP41):c.208-5A>G http://identifiers.org/clinvar/285275 ^@ NM_152778.2(MFSD8):c.230G>T (p.Gly77Val) http://identifiers.org/clinvar/285276 ^@ NM_020366.3(RPGRIP1):c.968T>C (p.Leu323Pro) http://identifiers.org/clinvar/285277 ^@ NM_006920.4(SCN1A):c.5499A>G (p.Pro1833=) http://identifiers.org/clinvar/285278 ^@ NM_017890.4(VPS13B):c.8826G>A (p.Ser2942=) http://identifiers.org/clinvar/285279 ^@ NM_133497.3(KCNV2):c.867G>T (p.Ser289=) http://identifiers.org/clinvar/285280 ^@ NM_003816.2(ADAM9):c.1893C>G (p.Asn631Lys) http://identifiers.org/clinvar/285281 ^@ NM_000388.3(CASR):c.60C>T (p.Tyr20=) http://identifiers.org/clinvar/285282 ^@ NM_002546.3(TNFRSF11B):c.729A>T (p.Gln243His) http://identifiers.org/clinvar/285283 ^@ NM_016941.3(DLL3):c.390G>A (p.Glu130=) http://identifiers.org/clinvar/285284 ^@ NM_004369.3(COL6A3):c.704T>C (p.Ile235Thr) http://identifiers.org/clinvar/285285 ^@ NM_000463.2(UGT1A1):c.1069C>T (p.Gln357Ter) http://identifiers.org/clinvar/285286 ^@ NM_000463.2(UGT1A1):c.1175C>T (p.Pro392Leu) http://identifiers.org/clinvar/285287 ^@ NM_004637.5(RAB7A):c.423C>G (p.Ala141=) http://identifiers.org/clinvar/285288 ^@ NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) http://identifiers.org/clinvar/285289 ^@ NM_001458.4(FLNC):c.3489G>C (p.Pro1163=) http://identifiers.org/clinvar/285290 ^@ NM_004006.2(DMD):c.-357A>G http://identifiers.org/clinvar/285291 ^@ NM_006790.2(MYOT):c.1398T>G (p.Leu466=) http://identifiers.org/clinvar/285292 ^@ NM_015295.2(SMCHD1):c.2152T>C (p.Leu718=) http://identifiers.org/clinvar/285293 ^@ NM_004006.2(DMD):c.434G>A (p.Arg145Gln) http://identifiers.org/clinvar/285294 ^@ NM_000152.4(GAA):c.1410C>T (p.Asn470=) http://identifiers.org/clinvar/285295 ^@ NM_182961.3(SYNE1):c.241C>T (p.Arg81Cys) http://identifiers.org/clinvar/285296 ^@ NM_024301.4(FKRP):c.557C>T (p.Pro186Leu) http://identifiers.org/clinvar/285297 ^@ NM_033071.3(SYNE1):c.12198C>T (p.His4066=) http://identifiers.org/clinvar/285298 ^@ NM_033071.3(SYNE1):c.17972C>T (p.Ser5991Leu) http://identifiers.org/clinvar/285299 ^@ NM_033071.3(SYNE1):c.7734-4T>A http://identifiers.org/clinvar/285300 ^@ NM_182961.3(SYNE1):c.8188T>G (p.Ser2730Ala) http://identifiers.org/clinvar/285301 ^@ NM_000337.5(SGCD):c.193-7A>G http://identifiers.org/clinvar/285302 ^@ NM_001165928.3(DAG1):c.1954C>T (p.Arg652Trp) http://identifiers.org/clinvar/285303 ^@ NM_213599.2(ANO5):c.1367T>A (p.Ile456Asn) http://identifiers.org/clinvar/285304 ^@ NM_033071.3(SYNE1):c.12142G>A (p.Glu4048Lys) http://identifiers.org/clinvar/285305 ^@ NM_007171.3(POMT1):c.1861C>T (p.Arg621Trp) http://identifiers.org/clinvar/285306 ^@ NM_001458.4(FLNC):c.4289-4A>C http://identifiers.org/clinvar/285307 ^@ NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys) http://identifiers.org/clinvar/285308 ^@ NM_005413.3(SIX3):c.947C>T (p.Thr316Ile) http://identifiers.org/clinvar/285309 ^@ NM_004043.2(ASMT):c.87C>A (p.Cys29Ter) http://identifiers.org/clinvar/285310 ^@ NM_000341.3(SLC3A1):c.1381T>C (p.Tyr461His) http://identifiers.org/clinvar/285311 ^@ NM_000070.2(CAPN3):c.61G>T (p.Gly21Trp) http://identifiers.org/clinvar/285312 ^@ NM_015295.2(SMCHD1):c.5024A>G (p.His1675Arg) http://identifiers.org/clinvar/285313 ^@ NM_004369.3(COL6A3):c.7849G>A (p.Asp2617Asn) http://identifiers.org/clinvar/285314 ^@ NM_004369.3(COL6A3):c.6768C>T (p.Ala2256=) http://identifiers.org/clinvar/285315 ^@ NM_182961.3(SYNE1):c.22120A>G (p.Ile7374Val) http://identifiers.org/clinvar/285316 ^@ NM_004369.3(COL6A3):c.2232G>A (p.Pro744=) http://identifiers.org/clinvar/285317 ^@ NM_213599.2(ANO5):c.879G>T (p.Lys293Asn) http://identifiers.org/clinvar/285318 ^@ NM_213599.2(ANO5):c.880A>T (p.Asn294Tyr) http://identifiers.org/clinvar/285319 ^@ NM_213599.2(ANO5):c.889G>T (p.Gly297Ter) http://identifiers.org/clinvar/285320 ^@ NM_024301.4(FKRP):c.1087G>T (p.Val363Leu) http://identifiers.org/clinvar/285321 ^@ NM_033071.3(SYNE1):c.10805A>G (p.Asn3602Ser) http://identifiers.org/clinvar/285322 ^@ NM_213599.2(ANO5):c.1957A>G (p.Ser653Gly) http://identifiers.org/clinvar/285323 ^@ NM_001849.3(COL6A2):c.2248C>T (p.Arg750Cys) http://identifiers.org/clinvar/285324 ^@ NM_001243766.1(POMGNT1):c.1050G>T (p.Leu350=) http://identifiers.org/clinvar/285325 ^@ NM_004006.2(DMD):c.5775G>T (p.Glu1925Asp) http://identifiers.org/clinvar/285326 ^@ NM_033071.3(SYNE1):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/285327 ^@ NM_133379.4(TTN):c.768G>A (p.Arg256=) http://identifiers.org/clinvar/285328 ^@ NM_033071.3(SYNE1):c.13636A>C (p.Asn4546His) http://identifiers.org/clinvar/285329 ^@ NM_182961.3(SYNE1):c.19026C>T (p.Asp6342=) http://identifiers.org/clinvar/285330 ^@ NM_012470.3(TNPO3):c.857G>A (p.Arg286His) http://identifiers.org/clinvar/285331 ^@ NM_000070.2(CAPN3):c.2384C>G (p.Ala795Gly) http://identifiers.org/clinvar/285332 ^@ NM_182961.3(SYNE1):c.23520A>G (p.Gly7840=) http://identifiers.org/clinvar/285333 ^@ NM_001165928.3(DAG1):c.2035C>T (p.Arg679Cys) http://identifiers.org/clinvar/285334 ^@ NM_004369.3(COL6A3):c.3507C>T (p.Asn1169=) http://identifiers.org/clinvar/285335 ^@ NM_033071.3(SYNE1):c.1134A>G (p.Pro378=) http://identifiers.org/clinvar/285336 ^@ NM_201382.3(PLEC):c.6318G>A (p.Gln2106=) http://identifiers.org/clinvar/285337 ^@ NM_001927.3(DES):c.1213delT (p.Tyr405Thrfs) http://identifiers.org/clinvar/285338 ^@ NM_213599.2(ANO5):c.2498T>A (p.Met833Lys) http://identifiers.org/clinvar/285339 ^@ NM_004006.2(DMD):c.2146G>C (p.Val716Leu) http://identifiers.org/clinvar/285340 ^@ NM_000070.2(CAPN3):c.2148G>T (p.Glu716Asp) http://identifiers.org/clinvar/285341 ^@ NM_182961.3(SYNE1):c.13299C>T (p.His4433=) http://identifiers.org/clinvar/285342 ^@ NM_201382.3(PLEC):c.10565C>T (p.Thr3522Met) http://identifiers.org/clinvar/285343 ^@ NM_001130987.1(DYSF):c.4983G>T (p.Thr1661=) http://identifiers.org/clinvar/285344 ^@ NM_000152.4(GAA):c.866C>T (p.Ala289Val) http://identifiers.org/clinvar/285345 ^@ NM_170707.3(LMNA):c.889A>G (p.Ile297Val) http://identifiers.org/clinvar/285346 ^@ NM_001190415.1(TAF6):c.1833C>T (p.Thr611=) http://identifiers.org/clinvar/285347 ^@ NM_001197104.1(KMT2A):c.10580G>A (p.Arg3527Gln) http://identifiers.org/clinvar/285348 ^@ NM_016327.2(UPB1):c.1076C>T (p.Thr359Met) http://identifiers.org/clinvar/285349 ^@ NM_182961.3(SYNE1):c.16390-6A>G http://identifiers.org/clinvar/285350 ^@ NM_004006.2(DMD):c.10361delA (p.Tyr3454Phefs) http://identifiers.org/clinvar/285351 ^@ NM_001848.2(COL6A1):c.9G>T (p.Ala3=) http://identifiers.org/clinvar/285352 ^@ NM_004006.2(DMD):c.3445A>G (p.Lys1149Glu) http://identifiers.org/clinvar/285353 ^@ NM_004369.3(COL6A3):c.1248G>A (p.Leu416=) http://identifiers.org/clinvar/285354 ^@ NM_004006.2(DMD):c.3814T>C (p.Leu1272=) http://identifiers.org/clinvar/285355 ^@ NM_033071.3(SYNE1):c.17761C>G (p.Pro5921Ala) http://identifiers.org/clinvar/285356 ^@ NM_001130987.1(DYSF):c.4597T>C (p.Tyr1533His) http://identifiers.org/clinvar/285357 ^@ NM_001165928.3(DAG1):c.2082C>T (p.Asn694=) http://identifiers.org/clinvar/285358 ^@ NM_001848.2(COL6A1):c.2049C>T (p.Asn683=) http://identifiers.org/clinvar/285359 ^@ NM_033071.3(SYNE1):c.3900G>A (p.Gln1300=) http://identifiers.org/clinvar/285360 ^@ NM_001243766.1(POMGNT1):c.1476C>A (p.Ile492=) http://identifiers.org/clinvar/285361 ^@ NM_001849.3(COL6A2):c.188C>T (p.Thr63Met) http://identifiers.org/clinvar/285362 ^@ NM_000088.3(COL1A1):c.3223G= (p.Ala1075=) http://identifiers.org/clinvar/285363 ^@ NM_004994.2(MMP9):c.1821A>C (p.Gly607=) http://identifiers.org/clinvar/285364 ^@ NM_000277.1(PAH):c.1210G>C (p.Ala404Pro) http://identifiers.org/clinvar/285365 ^@ NM_033071.3(SYNE1):c.25198G>A (p.Asp8400Asn) http://identifiers.org/clinvar/285366 ^@ NM_000152.4(GAA):c.726G>A (p.Ala242=) http://identifiers.org/clinvar/285367 ^@ NM_006031.5(PCNT):c.2108A>T (p.Tyr703Phe) http://identifiers.org/clinvar/285368 ^@ NM_003119.3(SPG7):c.637C>T (p.Arg213Ter) http://identifiers.org/clinvar/285369 ^@ NM_020920.3(CHD8):c.4429dupT (p.Tyr1477Leufs) http://identifiers.org/clinvar/285370 ^@ NM_000303.2(PMM2):c.200T>G (p.Val67Gly) http://identifiers.org/clinvar/285371 ^@ NM_001102608.1(COL6A6):c.4300G>T (p.Gly1434Ter) http://identifiers.org/clinvar/285372 ^@ NM_017534.5(MYH2):c.2967A>G (p.Ala989=) http://identifiers.org/clinvar/285373 ^@ NM_001037633.1(SIL1):c.1205delG (p.Gly402Alafs) http://identifiers.org/clinvar/285374 ^@ NM_000035.3(ALDOB):c.264C>A (p.Asp88Glu) http://identifiers.org/clinvar/285375 ^@ NM_001287174.1(ABCC8):c.279C>A (p.Ile93=) http://identifiers.org/clinvar/285376 ^@ NM_000383.3(AIRE):c.655G>A (p.Gly219Ser) http://identifiers.org/clinvar/285377 ^@ NM_000330.3(RS1):c.234G>A (p.Pro78=) http://identifiers.org/clinvar/285378 ^@ NM_000050.4(ASS1):c.1064delA (p.Lys355Argfs) http://identifiers.org/clinvar/285379 ^@ NM_000128.3(F11):c.1432G>A (p.Gly478Arg) http://identifiers.org/clinvar/285380 ^@ NM_024649.4(BBS1):c.1338C>T (p.Thr446=) http://identifiers.org/clinvar/285381 ^@ NM_001079802.1(FKTN):c.531T>A (p.His177Gln) http://identifiers.org/clinvar/285382 ^@ NM_022336.3(EDAR):c.224C>T (p.Pro75Leu) http://identifiers.org/clinvar/285383 ^@ NM_000642.2(AGL):c.1735+5dupG http://identifiers.org/clinvar/285384 ^@ NM_017651.4(AHI1):c.74A>G (p.Asp25Gly) http://identifiers.org/clinvar/285385 ^@ NM_001127897.3(RPGRIP1L):c.3638G>C (p.Arg1213Thr) http://identifiers.org/clinvar/285386 ^@ NM_201253.2(CRB1):c.1182C>A (p.Cys394Ter) http://identifiers.org/clinvar/285387 ^@ NM_032119.3(ADGRV1):c.15169C>T (p.Pro5057Ser) http://identifiers.org/clinvar/285388 ^@ NM_014191.3(SCN8A):c.402T>C (p.Phe134=) http://identifiers.org/clinvar/285389 ^@ NM_021072.3(HCN1):c.270G>A (p.Gln90=) http://identifiers.org/clinvar/285390 ^@ NM_014141.5(CNTNAP2):c.3431C>G (p.Thr1144Ser) http://identifiers.org/clinvar/285391 ^@ NM_001184880.1(PCDH19):c.3057G>A (p.Gly1019=) http://identifiers.org/clinvar/285392 ^@ NM_001429.3(EP300):c.1710G>A (p.Gln570=) http://identifiers.org/clinvar/285393 ^@ NM_003482.3(KMT2D):c.2088_2114del27 (p.Thr698_Pro706del) http://identifiers.org/clinvar/285394 ^@ NM_005270.4(GLI2):c.2708C>G (p.Thr903Ser) http://identifiers.org/clinvar/285395 ^@ NM_005270.4(GLI2):c.2187C>A (p.Phe729Leu) http://identifiers.org/clinvar/285396 ^@ NM_005183.3(CACNA1F):c.2576+1G>A http://identifiers.org/clinvar/285397 ^@ NM_003839.3(TNFRSF11A):c.1296G>A (p.Pro432=) http://identifiers.org/clinvar/285398 ^@ NM_000088.3(COL1A1):c.3162delT (p.Gly1055Alafs) http://identifiers.org/clinvar/285399 ^@ NM_012188.4(FOXI1):c.825C>T (p.Ala275=) http://identifiers.org/clinvar/285400 ^@ NM_013296.4(GPSM2):c.596C>T (p.Ala199Val) http://identifiers.org/clinvar/285401 ^@ NM_006783.4(GJB6):c.672A>G (p.Arg224=) http://identifiers.org/clinvar/285402 ^@ NM_033056.3(PCDH15):c.1548G>A (p.Val516=) http://identifiers.org/clinvar/285403 ^@ NM_016239.3(MYO15A):c.858C>G (p.Pro286=) http://identifiers.org/clinvar/285404 ^@ NM_022124.5(CDH23):c.1719C>T (p.Asn573=) http://identifiers.org/clinvar/285405 ^@ NM_016239.3(MYO15A):c.877G>A (p.Asp293Asn) http://identifiers.org/clinvar/285406 ^@ NM_002968.2(SALL1):c.986C>T (p.Thr329Ile) http://identifiers.org/clinvar/285407 ^@ NM_032119.3(ADGRV1):c.16226G>A (p.Arg5409Gln) http://identifiers.org/clinvar/285408 ^@ NM_000445.4(PLEC):c.3272G>A (p.Arg1091His) http://identifiers.org/clinvar/285409 ^@ NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) http://identifiers.org/clinvar/285410 ^@ NM_015295.2(SMCHD1):c.2914-8T>C http://identifiers.org/clinvar/285411 ^@ NM_004369.3(COL6A3):c.8879_8880insTGC (p.Ala2960_Lys2961insAla) http://identifiers.org/clinvar/285412 ^@ NM_206933.2(USH2A):c.1813T>C (p.Cys605Arg) http://identifiers.org/clinvar/285413 ^@ NM_000266.3(NDP):c.155T>A (p.Leu52Ter) http://identifiers.org/clinvar/285414 ^@ NM_003742.2(ABCB11):c.908+1G>A http://identifiers.org/clinvar/285415 ^@ NM_000543.4(SMPD1):c.114delG (p.Leu39Trpfs) http://identifiers.org/clinvar/285416 ^@ NM_001193315.1(VIPAS39):c.1081A>G (p.Thr361Ala) http://identifiers.org/clinvar/285417 ^@ NM_000543.4(SMPD1):c.1091+9C>T http://identifiers.org/clinvar/285418 ^@ NM_000543.4(SMPD1):c.99G>A (p.Met33Ile) http://identifiers.org/clinvar/285419 ^@ NM_000492.3(CFTR):c.960A>G (p.Leu320=) http://identifiers.org/clinvar/285420 ^@ NM_012254.2(SLC27A5):c.1616T>C (p.Met539Thr) http://identifiers.org/clinvar/285421 ^@ NM_000784.3(CYP27A1):c.1019C>T (p.Thr340Ile) http://identifiers.org/clinvar/285422 ^@ NM_000214.2(JAG1):c.894T>C (p.Asn298=) http://identifiers.org/clinvar/285423 ^@ NM_022437.2(ABCG8):c.331A>C (p.Arg111=) http://identifiers.org/clinvar/285424 ^@ NM_000080.3(CHRNE):c.905C>T (p.Pro302Leu) http://identifiers.org/clinvar/285425 ^@ NM_005055.4(RAPSN):c.1203C>T (p.Asn401=) http://identifiers.org/clinvar/285426 ^@ NM_001003722.1(GLE1):c.5C>G (p.Pro2Arg) http://identifiers.org/clinvar/285427 ^@ NM_182914.2(SYNE2):c.17554A>C (p.Lys5852Gln) http://identifiers.org/clinvar/285428 ^@ NM_002206.2(ITGA7):c.656C>T (p.Thr219Ile) http://identifiers.org/clinvar/285429 ^@ NM_001458.4(FLNC):c.5764G>A (p.Ala1922Thr) http://identifiers.org/clinvar/285430 ^@ NM_001271208.1(NEB):c.5696C>T (p.Thr1899Ile) http://identifiers.org/clinvar/285431 ^@ NM_005199.4(CHRNG):c.663G>A (p.Ala221=) http://identifiers.org/clinvar/285432 ^@ NM_133379.4(TTN):c.2203T>C (p.Tyr735His) http://identifiers.org/clinvar/285433 ^@ NM_024301.4(FKRP):c.544T>C (p.Tyr182His) http://identifiers.org/clinvar/285434 ^@ NM_000036.2(AMPD1):c.647-9T>C http://identifiers.org/clinvar/285435 ^@ NM_001033855.2(DCLRE1C):c.1662A>G (p.Gln554=) http://identifiers.org/clinvar/285436 ^@ NM_002312.3(LIG4):c.1751_1755delTAAGA (p.Ile584Argfs) http://identifiers.org/clinvar/285437 ^@ NM_030662.3(MAP2K2):c.1064C>T (p.Ala355Val) http://identifiers.org/clinvar/285438 ^@ NM_002880.3(RAF1):c.1668+4A>G http://identifiers.org/clinvar/285439 ^@ NM_004260.3(RECQL4):c.1573T>C (p.Cys525Arg) http://identifiers.org/clinvar/285440 ^@ NM_004260.3(RECQL4):c.1568delG (p.Ser523Thrfs) http://identifiers.org/clinvar/285441 ^@ NM_000056.4(BCKDHB):c.290A>T (p.Asp97Val) http://identifiers.org/clinvar/285442 ^@ NM_001203.2(BMPR1B):c.289A>G (p.Thr97Ala) http://identifiers.org/clinvar/285443 ^@ NM_001127464.2(ZNF469):c.3432T>C (p.Arg1144=) http://identifiers.org/clinvar/285444 ^@ NM_001127464.2(ZNF469):c.3438G>A (p.Pro1146=) http://identifiers.org/clinvar/285445 ^@ NM_001127464.2(ZNF469):c.3484A>G (p.Lys1162Glu) http://identifiers.org/clinvar/285446 ^@ NM_001165928.3(DAG1):c.403G>T (p.Ala135Ser) http://identifiers.org/clinvar/285447 ^@ NM_001848.2(COL6A1):c.2800G>A (p.Ala934Thr) http://identifiers.org/clinvar/285448 ^@ NM_001849.3(COL6A2):c.2423-7_2423-6delCT http://identifiers.org/clinvar/285449 ^@ NM_004369.3(COL6A3):c.188A>G (p.Tyr63Cys) http://identifiers.org/clinvar/285450 ^@ NM_001849.3(COL6A2):c.1498G>C (p.Asp500His) http://identifiers.org/clinvar/285451 ^@ NM_015295.2(SMCHD1):c.1164G>A (p.Lys388=) http://identifiers.org/clinvar/285452 ^@ NM_182961.3(SYNE1):c.9933C>T (p.Ser3311=) http://identifiers.org/clinvar/285453 ^@ NM_004369.3(COL6A3):c.9494-10C>T http://identifiers.org/clinvar/285454 ^@ NM_033071.3(SYNE1):c.1815A>C (p.Ser605=) http://identifiers.org/clinvar/285455 ^@ NM_001849.3(COL6A2):c.2751G>A (p.Val917=) http://identifiers.org/clinvar/285456 ^@ NM_000152.4(GAA):c.546+3G>A http://identifiers.org/clinvar/285457 ^@ NM_001848.2(COL6A1):c.833G>A (p.Gly278Glu) http://identifiers.org/clinvar/285458 ^@ NM_012470.3(TNPO3):c.1185C>A (p.Asp395Glu) http://identifiers.org/clinvar/285459 ^@ NM_001079802.1(FKTN):c.63G>C (p.Leu21=) http://identifiers.org/clinvar/285460 ^@ NM_000070.2(CAPN3):c.620A>C (p.Lys207Thr) http://identifiers.org/clinvar/285461 ^@ NM_001848.2(COL6A1):c.2553C>T (p.Phe851=) http://identifiers.org/clinvar/285462 ^@ NM_001165928.3(DAG1):c.1280C>T (p.Pro427Leu) http://identifiers.org/clinvar/285463 ^@ NM_003494.3(DYSF):c.4978G>A (p.Gly1660Ser) http://identifiers.org/clinvar/285464 ^@ NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) http://identifiers.org/clinvar/285465 ^@ NM_000337.5(SGCD):c.768G>A (p.Thr256=) http://identifiers.org/clinvar/285466 ^@ NM_182914.2(SYNE2):c.4024G>A (p.Val1342Ile) http://identifiers.org/clinvar/285467 ^@ NM_033071.3(SYNE1):c.22702G>A (p.Ala7568Thr) http://identifiers.org/clinvar/285468 ^@ NM_005572.3(LMNA):c.83G>A (p.Arg28Gln) http://identifiers.org/clinvar/285469 ^@ NM_001849.3(COL6A2):c.2998A>G (p.Lys1000Glu) http://identifiers.org/clinvar/285470 ^@ NM_000070.2(CAPN3):c.1309C>T (p.Arg437Cys) http://identifiers.org/clinvar/285471 ^@ NM_013382.5(POMT2):c.1658dupA (p.Asn553Lysfs) http://identifiers.org/clinvar/285472 ^@ NM_033071.3(SYNE1):c.19042C>G (p.Gln6348Glu) http://identifiers.org/clinvar/285473 ^@ NM_033071.3(SYNE1):c.16360-9G>T http://identifiers.org/clinvar/285474 ^@ NM_213599.2(ANO5):c.369G>A (p.Ser123=) http://identifiers.org/clinvar/285475 ^@ NM_007171.3(POMT1):c.599C>G (p.Ala200Gly) http://identifiers.org/clinvar/285476 ^@ NM_000152.4(GAA):c.444C>T (p.Tyr148=) http://identifiers.org/clinvar/285477 ^@ NM_004369.3(COL6A3):c.7024C>T (p.Arg2342Ter) http://identifiers.org/clinvar/285478 ^@ NM_182961.3(SYNE1):c.22245G>T (p.Glu7415Asp) http://identifiers.org/clinvar/285479 ^@ NM_007171.3(POMT1):c.1815C>G (p.Leu605=) http://identifiers.org/clinvar/285480 ^@ NM_004369.3(COL6A3):c.7174G>A (p.Gly2392Arg) http://identifiers.org/clinvar/285481 ^@ NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) http://identifiers.org/clinvar/285482 ^@ NM_001848.2(COL6A1):c.928_930delAAG (p.Lys310del) http://identifiers.org/clinvar/285483 ^@ NM_001849.3(COL6A2):c.2830_2832delTTC (p.Phe944del) http://identifiers.org/clinvar/285484 ^@ NM_000070.2(CAPN3):c.1584C>T (p.Asn528=) http://identifiers.org/clinvar/285485 ^@ NM_014191.3(SCN8A):c.4155A>C (p.Thr1385=) http://identifiers.org/clinvar/285486 ^@ NM_001130438.2(SPTAN1):c.5106G>A (p.Leu1702=) http://identifiers.org/clinvar/285487 ^@ NM_198859.3(PRICKLE2):c.2275A>C (p.Asn759His) http://identifiers.org/clinvar/285488 ^@ NM_020686.5(ABAT):c.678G>C (p.Ala226=) http://identifiers.org/clinvar/285489 ^@ NM_174963.3(ST3GAL3):c.509+10C>G http://identifiers.org/clinvar/285490 ^@ NM_004519.3(KCNQ3):c.1458T>A (p.Ser486Arg) http://identifiers.org/clinvar/285491 ^@ NM_024596.4(MCPH1):c.1752A>G (p.Pro584=) http://identifiers.org/clinvar/285492 ^@ NM_020686.5(ABAT):c.933G>C (p.Lys311Asn) http://identifiers.org/clinvar/285493 ^@ NM_007315.3(STAT1):c.88delA (p.Ile30Serfs) http://identifiers.org/clinvar/285494 ^@ NM_001170629.1(CHD8):c.262G>A (p.Glu88Lys) http://identifiers.org/clinvar/285495 ^@ NM_014780.4(CUL7):c.2644C>T (p.Arg882Trp) http://identifiers.org/clinvar/285496 ^@ NM_025114.3(CEP290):c.6193A>G (p.Asn2065Asp) http://identifiers.org/clinvar/285497 ^@ NM_133433.3(NIPBL):c.1017T>C (p.Ser339=) http://identifiers.org/clinvar/285498 ^@ NM_004482.3(GALNT3):c.51T>C (p.His17=) http://identifiers.org/clinvar/285499 ^@ NM_005529.6(HSPG2):c.9332C>A (p.Pro3111His) http://identifiers.org/clinvar/285500 ^@ NM_001457.3(FLNB):c.3288C>T (p.Ser1096=) http://identifiers.org/clinvar/285501 ^@ NM_002693.2(POLG):c.2019C>T (p.Ala673=) http://identifiers.org/clinvar/285502 ^@ NM_021101.4(CLDN1):c.147G>A (p.Gly49=) http://identifiers.org/clinvar/285503 ^@ NM_138694.3(PKHD1):c.6687T>C (p.Ser2229=) http://identifiers.org/clinvar/285504 ^@ NM_018849.2(ABCB4):c.3368C>G (p.Ser1123Cys) http://identifiers.org/clinvar/285505 ^@ NM_004565.2(PEX14):c.451G>A (p.Gly151Ser) http://identifiers.org/clinvar/285506 ^@ NM_001080522.2(CC2D2A):c.971G>A (p.Arg324His) http://identifiers.org/clinvar/285507 ^@ NM_000466.2(PEX1):c.1256G>A (p.Arg419Lys) http://identifiers.org/clinvar/285508 ^@ NM_001360.2(DHCR7):c.1370G>A (p.Arg457Gln) http://identifiers.org/clinvar/285509 ^@ NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala) http://identifiers.org/clinvar/285510 ^@ NM_080680.2(COL11A2):c.2431-18delC http://identifiers.org/clinvar/285512 ^@ NM_001005741.2(GBA):c.58A>G (p.Ile20Val) http://identifiers.org/clinvar/285513 ^@ NM_130837.2(OPA1):c.604_605delTT (p.Leu202Valfs) http://identifiers.org/clinvar/285514 ^@ NM_032119.3(ADGRV1):c.155G>A (p.Arg52His) http://identifiers.org/clinvar/285515 ^@ NM_001369.2(DNAH5):c.5931C>T (p.Ala1977=) http://identifiers.org/clinvar/285516 ^@ NM_153704.5(TMEM67):c.1700A>G (p.Tyr567Cys) http://identifiers.org/clinvar/285517 ^@ NM_015102.4(NPHP4):c.997G>A (p.Gly333Arg) http://identifiers.org/clinvar/285518 ^@ NM_000260.3(MYO7A):c.3297C>T (p.Pro1099=) http://identifiers.org/clinvar/285519 ^@ NM_001199397.1(NEK1):c.689A>G (p.Asp230Gly) http://identifiers.org/clinvar/285520 ^@ NM_003165.3(STXBP1):c.1335C>T (p.His445=) http://identifiers.org/clinvar/285521 ^@ NM_005045.3(RELN):c.1708C>G (p.His570Asp) http://identifiers.org/clinvar/285522 ^@ NM_012301.3(MAGI2):c.3739G>A (p.Ala1247Thr) http://identifiers.org/clinvar/285523 ^@ NM_024596.4(MCPH1):c.2145G>A (p.Trp715Ter) http://identifiers.org/clinvar/285524 ^@ NM_005682.6(ADGRG1):c.243C>T (p.Phe81=) http://identifiers.org/clinvar/285525 ^@ NM_153033.4(KCTD7):c.784C>G (p.Gln262Glu) http://identifiers.org/clinvar/285526 ^@ NM_001127221.1(CACNA1A):c.5735-6T>C http://identifiers.org/clinvar/285527 ^@ NM_007254.3(PNKP):c.1559A>G (p.Glu520Gly) http://identifiers.org/clinvar/285528 ^@ NM_000833.4(GRIN2A):c.3813G>A (p.Trp1271Ter) http://identifiers.org/clinvar/285529 ^@ NM_016492.4(RANGRF):c.268T>C (p.Leu90=) http://identifiers.org/clinvar/285530 ^@ NM_000891.2(KCNJ2):c.168T>C (p.Val56=) http://identifiers.org/clinvar/285531 ^@ NM_025074.6(FRAS1):c.11683G>A (p.Val3895Ile) http://identifiers.org/clinvar/285532 ^@ NM_000151.3(G6PC):c.340+10C>A http://identifiers.org/clinvar/285533 ^@ NM_024915.3(GRHL2):c.1499C>A (p.Thr500Lys) http://identifiers.org/clinvar/285534 ^@ NM_001879.5(MASP1):c.863G>A (p.Arg288Gln) http://identifiers.org/clinvar/285535 ^@ NM_001614.3(ACTG1):c.985-5T>C http://identifiers.org/clinvar/285536 ^@ NM_206933.2(USH2A):c.7573C>A (p.Pro2525Thr) http://identifiers.org/clinvar/285537 ^@ NM_000214.2(JAG1):c.173_176delCCCG (p.Ala58Glyfs) http://identifiers.org/clinvar/285538 ^@ NM_003742.2(ABCB11):c.3305C>G (p.Ser1102Trp) http://identifiers.org/clinvar/285539 ^@ NM_000287.3(PEX6):c.853C>G (p.Pro285Ala) http://identifiers.org/clinvar/285540 ^@ NM_017929.5(PEX26):c.325T>C (p.Tyr109His) http://identifiers.org/clinvar/285541 ^@ NM_001080522.2(CC2D2A):c.1359+10A>G http://identifiers.org/clinvar/285542 ^@ NM_000286.2(PEX12):c.452G>A (p.Arg151His) http://identifiers.org/clinvar/285543 ^@ NM_000271.4(NPC1):c.67delC (p.Gln23Serfs) http://identifiers.org/clinvar/285544 ^@ NM_014425.4(INVS):c.2517G>A (p.Lys839=) http://identifiers.org/clinvar/285545 ^@ NM_144588.6(ZFYVE27):c.1015C>T (p.Arg339Cys) http://identifiers.org/clinvar/285546 ^@ NM_001376.4(DYNC1H1):c.7192C>T (p.Arg2398Cys) http://identifiers.org/clinvar/285547 ^@ NM_004006.2(DMD):c.3637A>G (p.Lys1213Glu) http://identifiers.org/clinvar/285548 ^@ NM_170707.3(LMNA):c.139G>A (p.Asp47Asn) http://identifiers.org/clinvar/285549 ^@ NM_001271208.1(NEB):c.7335G>C (p.Lys2445Asn) http://identifiers.org/clinvar/285550 ^@ NM_001267550.2(TTN):c.41901G>A (p.Leu13967=) http://identifiers.org/clinvar/285551 ^@ NM_201381.2(PLEC):c.4429C>T (p.Arg1477Cys) http://identifiers.org/clinvar/285552 ^@ NM_213599.2(ANO5):c.2256G>A (p.Thr752=) http://identifiers.org/clinvar/285553 ^@ NM_006662.2(SRCAP):c.3738G>T (p.Gly1246=) http://identifiers.org/clinvar/285554 ^@ NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) http://identifiers.org/clinvar/285555 ^@ NM_015560.2(OPA1):c.2822_2823delAA (p.Lys941Serfs) http://identifiers.org/clinvar/285557 ^@ NM_025074.6(FRAS1):c.5205C>A (p.His1735Gln) http://identifiers.org/clinvar/285558 ^@ NM_001159702.2(FHL1):c.767_768delCTinsTC (p.Pro256Leu) http://identifiers.org/clinvar/285559 ^@ NM_017617.4(NOTCH1):c.7233A>G (p.Pro2411=) http://identifiers.org/clinvar/285560 ^@ NM_000321.2(RB1):c.16C>T (p.Pro6Ser) http://identifiers.org/clinvar/285561 ^@ NM_004369.3(COL6A3):c.5118C>T (p.Ile1706=) http://identifiers.org/clinvar/285562 ^@ NM_032581.3(FAM126A):c.415-1G>A http://identifiers.org/clinvar/285563 ^@ NM_019109.4(ALG1):c.682G>T (p.Asp228Tyr) http://identifiers.org/clinvar/285564 ^@ NM_019109.4(ALG1):c.1184A>G (p.Lys395Arg) http://identifiers.org/clinvar/285565 ^@ NM_006946.2(SPTBN2):c.2473G= (p.Gly825=) http://identifiers.org/clinvar/285566 ^@ NM_031946.6(AGAP3):c.80delC (p.Ala27Glyfs) http://identifiers.org/clinvar/285567 ^@ NM_020631.4(PLEKHG5):c.2428G>A (p.Gly810Ser) http://identifiers.org/clinvar/285568 ^@ NM_020631.4(PLEKHG5):c.2307G>A (p.Thr769=) http://identifiers.org/clinvar/285569 ^@ NM_002025.3(AFF2):c.1262+1G>C http://identifiers.org/clinvar/285570 ^@ NM_000169.2(GLA):c.422C>T (p.Thr141Ile) http://identifiers.org/clinvar/285571 ^@ NM_004369.3(COL6A3):c.5394C>T (p.Arg1798=) http://identifiers.org/clinvar/285572 ^@ NM_000070.2(CAPN3):c.2092C>T (p.Arg698Cys) http://identifiers.org/clinvar/285573 ^@ NM_012470.3(TNPO3):c.2431-2A>C http://identifiers.org/clinvar/285574 ^@ NM_004369.3(COL6A3):c.4047C>T (p.Asp1349=) http://identifiers.org/clinvar/285575 ^@ NM_001849.3(COL6A2):c.2697G>C (p.Thr899=) http://identifiers.org/clinvar/285576 ^@ NM_012210.3(TRIM32):c.1838G>A (p.Arg613Gln) http://identifiers.org/clinvar/285577 ^@ NM_001130987.1(DYSF):c.3322C>T (p.Arg1108Cys) http://identifiers.org/clinvar/285578 ^@ NM_001849.3(COL6A2):c.2922G>A (p.Leu974=) http://identifiers.org/clinvar/285579 ^@ NM_013382.5(POMT2):c.-7G>A http://identifiers.org/clinvar/285580 ^@ NM_000070.2(CAPN3):c.1001A>T (p.His334Leu) http://identifiers.org/clinvar/285581 ^@ NM_004369.3(COL6A3):c.804C>G (p.Leu268=) http://identifiers.org/clinvar/285582 ^@ NM_000070.2(CAPN3):c.581C>T (p.Ser194Phe) http://identifiers.org/clinvar/285583 ^@ NM_000070.2(CAPN3):c.1345A>C (p.Asn449His) http://identifiers.org/clinvar/285584 ^@ NM_003494.3(DYSF):c.4299C>G (p.Tyr1433Ter) http://identifiers.org/clinvar/285585 ^@ NM_004369.3(COL6A3):c.107C>T (p.Ala36Val) http://identifiers.org/clinvar/285586 ^@ NM_015295.2(SMCHD1):c.1843-1G>A http://identifiers.org/clinvar/285587 ^@ NM_004369.3(COL6A3):c.7175-6C>A http://identifiers.org/clinvar/285588 ^@ NM_001848.2(COL6A1):c.315_349del35 (p.Met106Glyfs) http://identifiers.org/clinvar/285589 ^@ NM_000152.4(GAA):c.1402A>T (p.Ile468Phe) http://identifiers.org/clinvar/285590 ^@ NM_001130987.1(DYSF):c.3757-2A>G http://identifiers.org/clinvar/285591 ^@ NM_033071.3(SYNE1):c.4617C>T (p.Tyr1539=) http://identifiers.org/clinvar/285592 ^@ NM_182961.3(SYNE1):c.17015G>A (p.Arg5672Gln) http://identifiers.org/clinvar/285593 ^@ NM_058246.3(DNAJB6):c.928C>A (p.Gln310Lys) http://identifiers.org/clinvar/285594 ^@ NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) http://identifiers.org/clinvar/285595 ^@ NM_001130987.1(DYSF):c.316C>T (p.Leu106=) http://identifiers.org/clinvar/285596 ^@ NM_000231.2(SGCG):c.77T>C (p.Ile26Thr) http://identifiers.org/clinvar/285597 ^@ NM_033071.3(SYNE1):c.17134-5C>G http://identifiers.org/clinvar/285598 ^@ NM_001267550.2(TTN):c.23295A>C (p.Glu7765Asp) http://identifiers.org/clinvar/285599 ^@ NM_015295.2(SMCHD1):c.3872A>G (p.Asn1291Ser) http://identifiers.org/clinvar/285600 ^@ NM_033071.3(SYNE1):c.14167C>T (p.Leu4723=) http://identifiers.org/clinvar/285601 ^@ NM_000771.3(CYP2C9):c.817delA (p.Lys273Argfs) http://identifiers.org/clinvar/285602 ^@ NM_003060.3(SLC22A5):c.523G>A (p.Val175Met) http://identifiers.org/clinvar/285603 ^@ NM_003060.3(SLC22A5):c.1367C>G (p.Thr456Arg) http://identifiers.org/clinvar/285604 ^@ NM_001042517.1(DIAPH3):c.3571C>T (p.Arg1191Ter) http://identifiers.org/clinvar/285606 ^@ NM_025128.4(MUS81):c.1401+1G>T http://identifiers.org/clinvar/285607 ^@ NM_031885.3(BBS2):c.1953T>C (p.Asn651=) http://identifiers.org/clinvar/285608 ^@ NM_173354.4(SIK1):c.1210G>A (p.Glu404Lys) http://identifiers.org/clinvar/285609 ^@ NM_176824.2(BBS7):c.1062_1063delTA (p.Tyr354Terfs) http://identifiers.org/clinvar/285610 ^@ NM_013233.2(STK39):c.54_69del16 (p.Pro19Argfs) http://identifiers.org/clinvar/285611 ^@ NM_001077416.2(TMEM231):c.886T>C (p.Phe296Leu) http://identifiers.org/clinvar/285612 ^@ NM_018003.2(UACA):c.1222-1G>A http://identifiers.org/clinvar/285613 ^@ NM_001305581.1(C10orf11):c.256C>T (p.Arg86Ter) http://identifiers.org/clinvar/285614 ^@ NM_005529.6(HSPG2):c.6402G>A (p.Val2134=) http://identifiers.org/clinvar/285615 ^@ NM_003482.3(KMT2D):c.11342G>C (p.Ser3781Thr) http://identifiers.org/clinvar/285616 ^@ NM_004006.2(DMD):c.319dupA (p.Thr107Asnfs) http://identifiers.org/clinvar/285617 ^@ NM_004006.2(DMD):c.6393_6394insCA (p.Ile2132Glnfs) http://identifiers.org/clinvar/285618 ^@ NM_000169.2(GLA):c.424T>C (p.Cys142Arg) http://identifiers.org/clinvar/285619 ^@ NM_013382.5(POMT2):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/285620 ^@ NM_001457.3(FLNB):c.6616G>T (p.Gly2206Ter) http://identifiers.org/clinvar/285621 ^@ NM_020451.2(SELENON):c.610C>T (p.Arg204Cys) http://identifiers.org/clinvar/285622 ^@ NM_015029.2(POP1):c.163C>T (p.Arg55Ter) http://identifiers.org/clinvar/285623 ^@ NM_001023570.3(IQCB1):c.214C>T (p.Arg72Ter) http://identifiers.org/clinvar/285624 ^@ NM_001271208.1(NEB):c.994G>A (p.Glu332Lys) http://identifiers.org/clinvar/285625 ^@ NM_004557.3(NOTCH4):c.4927C>T (p.Arg1643Ter) http://identifiers.org/clinvar/285626 ^@ NM_007171.3(POMT1):c.663T>C (p.His221=) http://identifiers.org/clinvar/285627 ^@ NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) http://identifiers.org/clinvar/285628 ^@ NM_213599.2(ANO5):c.2012A>G (p.Tyr671Cys) http://identifiers.org/clinvar/285629 ^@ NM_004369.3(COL6A3):c.1394G>A (p.Arg465Gln) http://identifiers.org/clinvar/285630 ^@ NM_000023.3(SGCA):c.1121G>A (p.Arg374His) http://identifiers.org/clinvar/285631 ^@ NM_001849.3(COL6A2):c.14C>T (p.Thr5Ile) http://identifiers.org/clinvar/285632 ^@ NM_001848.2(COL6A1):c.424G>C (p.Val142Leu) http://identifiers.org/clinvar/285633 ^@ NM_182961.3(SYNE1):c.13934_13935insTTT (p.Leu4645_Asn4646insLeu) http://identifiers.org/clinvar/285634 ^@ NM_001848.2(COL6A1):c.409C>G (p.Leu137Val) http://identifiers.org/clinvar/285635 ^@ NM_033071.3(SYNE1):c.16083G>A (p.Arg5361=) http://identifiers.org/clinvar/285636 ^@ NM_004369.3(COL6A3):c.3754C>T (p.Arg1252Cys) http://identifiers.org/clinvar/285637 ^@ NM_000023.3(SGCA):c.1027G>A (p.Glu343Lys) http://identifiers.org/clinvar/285638 ^@ NM_001849.3(COL6A2):c.1359C>T (p.Arg453=) http://identifiers.org/clinvar/285639 ^@ NM_004369.3(COL6A3):c.6798C>T (p.Thr2266=) http://identifiers.org/clinvar/285640 ^@ NM_182961.3(SYNE1):c.7284A>C (p.Ala2428=) http://identifiers.org/clinvar/285641 ^@ NM_007171.3(POMT1):c.2069+9G>A http://identifiers.org/clinvar/285642 ^@ NM_033071.3(SYNE1):c.24268A>C (p.Asn8090His) http://identifiers.org/clinvar/285643 ^@ NM_003494.3(DYSF):c.2230C>T (p.Arg744Cys) http://identifiers.org/clinvar/285644 ^@ NM_033071.3(SYNE1):c.245G>T (p.Arg82Leu) http://identifiers.org/clinvar/285645 ^@ NM_001165928.3(DAG1):c.932G>C (p.Arg311Pro) http://identifiers.org/clinvar/285646 ^@ NM_033071.3(SYNE1):c.22280A>C (p.Glu7427Ala) http://identifiers.org/clinvar/285647 ^@ NM_003494.3(DYSF):c.2372dupC (p.Asp792Glyfs) http://identifiers.org/clinvar/285648 ^@ NM_001849.3(COL6A2):c.2312dupA (p.Asn771Lysfs) http://identifiers.org/clinvar/285649 ^@ NM_000152.4(GAA):c.910G>A (p.Gly304Ser) http://identifiers.org/clinvar/285650 ^@ NM_000070.2(CAPN3):c.1708_1719delATCCTCCGGGTC (p.Ile570_Val573del) http://identifiers.org/clinvar/285651 ^@ NM_000070.2(CAPN3):c.584A>C (p.Asn195Thr) http://identifiers.org/clinvar/285652 ^@ NM_001128227.2(GNE):c.897G>A (p.Lys299=) http://identifiers.org/clinvar/285653 ^@ NM_007171.3(POMT1):c.122+5G>A http://identifiers.org/clinvar/285654 ^@ NM_015295.2(SMCHD1):c.3769C>T (p.Leu1257Phe) http://identifiers.org/clinvar/285655 ^@ NM_000070.2(CAPN3):c.794C>T (p.Ser265Phe) http://identifiers.org/clinvar/285656 ^@ NM_014844.4(TECPR2):c.242_243delTG (p.Val81Glyfs) http://identifiers.org/clinvar/285657 ^@ NM_182896.2(ARL13B):c.131-1G>T http://identifiers.org/clinvar/285658 ^@ NM_203290.3(POLR1C):c.572G>A (p.Arg191Gln) http://identifiers.org/clinvar/285659 ^@ NM_005050.3(ABCD4):c.1237G>A (p.Glu413Lys) http://identifiers.org/clinvar/285660 ^@ NM_015338.5(ASXL1):c.2387G>C (p.Trp796Ser) http://identifiers.org/clinvar/285661 ^@ NM_000540.2(RYR1):c.12861_12869delCACGGCGGC (p.Thr4288_Ala4290del) http://identifiers.org/clinvar/285662 ^@ NM_001282531.2(ADNP):c.985C>G (p.Gln329Glu) http://identifiers.org/clinvar/285663 ^@ NM_001004127.2(ALG11):c.97G>A (p.Val33Met) http://identifiers.org/clinvar/285664 ^@ NM_001130987.1(DYSF):c.1332G>T (p.Lys444Asn) http://identifiers.org/clinvar/285665 ^@ NM_001130987.1(DYSF):c.5004-1G>A http://identifiers.org/clinvar/285666 ^@ NM_000486.5(AQP2):c.763C>T (p.Gln255Ter) http://identifiers.org/clinvar/285667 ^@ NM_014980.2(STXBP5L):c.685G>T (p.Glu229Ter) http://identifiers.org/clinvar/285668 ^@ NM_015338.5(ASXL1):c.1249C>T (p.Arg417Ter) http://identifiers.org/clinvar/285669 ^@ NM_213599.2(ANO5):c.2004delG (p.Leu669Phefs) http://identifiers.org/clinvar/285670 ^@ NM_000070.2(CAPN3):c.1782+5G>A http://identifiers.org/clinvar/285671 ^@ NM_001848.2(COL6A1):c.348C>T (p.Ser116=) http://identifiers.org/clinvar/285672 ^@ NM_004369.3(COL6A3):c.5253G>A (p.Thr1751=) http://identifiers.org/clinvar/285673 ^@ NM_033071.3(SYNE1):c.4313A>G (p.Glu1438Gly) http://identifiers.org/clinvar/285674 ^@ NM_033071.3(SYNE1):c.9138A>C (p.Lys3046Asn) http://identifiers.org/clinvar/285675 ^@ NM_033071.3(SYNE1):c.16355A>G (p.Asn5452Ser) http://identifiers.org/clinvar/285676 ^@ NM_000152.4(GAA):c.2478G>A (p.Leu826=) http://identifiers.org/clinvar/285677 ^@ NM_033071.3(SYNE1):c.13805G>A (p.Arg4602Gln) http://identifiers.org/clinvar/285678 ^@ NM_201383.2(PLEC):c.10847G>A (p.Arg3616Gln) http://identifiers.org/clinvar/285679 ^@ NM_000070.2(CAPN3):c.1442T>C (p.Leu481Pro) http://identifiers.org/clinvar/285680 ^@ NM_004369.3(COL6A3):c.3008G>A (p.Gly1003Glu) http://identifiers.org/clinvar/285681 ^@ NM_000070.2(CAPN3):c.351C>T (p.Asn117=) http://identifiers.org/clinvar/285682 ^@ NM_033071.3(SYNE1):c.17940C>T (p.Ala5980=) http://identifiers.org/clinvar/285683 ^@ NM_004006.2(DMD):c.8999G>A (p.Arg3000His) http://identifiers.org/clinvar/285684 ^@ NM_000070.2(CAPN3):c.237delG (p.Glu79Aspfs) http://identifiers.org/clinvar/285685 ^@ NM_001128227.2(GNE):c.1964C>T (p.Ala655Val) http://identifiers.org/clinvar/285686 ^@ NM_001130987.1(DYSF):c.5333C>A (p.Pro1778Gln) http://identifiers.org/clinvar/285687 ^@ NM_213599.2(ANO5):c.803A>G (p.Asn268Ser) http://identifiers.org/clinvar/285688 ^@ NM_033071.3(SYNE1):c.19321G>T (p.Ala6441Ser) http://identifiers.org/clinvar/285689 ^@ NM_033071.3(SYNE1):c.6745T>A (p.Ser2249Thr) http://identifiers.org/clinvar/285690 ^@ NM_013936.3(OR12D2):c.723delC (p.Ser242Profs) http://identifiers.org/clinvar/285691 ^@ NM_020848.2(KIAA1462):c.3373delC (p.Gln1125Argfs) http://identifiers.org/clinvar/285692 ^@ NM_145043.3(NEIL2):c.385delA (p.Arg129Glyfs) http://identifiers.org/clinvar/285694 ^@ NM_001267550.2(TTN):c.22124_22127delACAA (p.Asn7375Metfs) http://identifiers.org/clinvar/285695 ^@ NM_004369.3(COL6A3):c.5575G>A (p.Glu1859Lys) http://identifiers.org/clinvar/285696 ^@ NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) http://identifiers.org/clinvar/285697 ^@ NM_015295.2(SMCHD1):c.5072T>G (p.Leu1691Arg) http://identifiers.org/clinvar/285698 ^@ NM_015295.2(SMCHD1):c.3238_3239delGA (p.Glu1080Asnfs) http://identifiers.org/clinvar/285699 ^@ NM_033071.3(SYNE1):c.8356A>G (p.Ile2786Val) http://identifiers.org/clinvar/285700 ^@ NM_007171.3(POMT1):c.2069+4C>T http://identifiers.org/clinvar/285701 ^@ NM_001848.2(COL6A1):c.138G>C (p.Glu46Asp) http://identifiers.org/clinvar/285702 ^@ NM_001130987.1(DYSF):c.2844G>T (p.Trp948Cys) http://identifiers.org/clinvar/285703 ^@ NM_004006.2(DMD):c.4881C>A (p.His1627Gln) http://identifiers.org/clinvar/285704 ^@ NM_001130987.1(DYSF):c.2833G>A (p.Ala945Thr) http://identifiers.org/clinvar/285705 ^@ NM_033071.3(SYNE1):c.11957C>T (p.Pro3986Leu) http://identifiers.org/clinvar/285706 ^@ NM_182961.3(SYNE1):c.24977-5C>T http://identifiers.org/clinvar/285707 ^@ NM_000117.2(EMD):c.548C>T (p.Pro183Leu) http://identifiers.org/clinvar/285708 ^@ NM_001267550.2(TTN):c.107144_107146delAAG (p.Glu35715del) http://identifiers.org/clinvar/285709 ^@ NM_012470.3(TNPO3):c.2079C>T (p.His693=) http://identifiers.org/clinvar/285710 ^@ NM_001848.2(COL6A1):c.2758C>T (p.Leu920=) http://identifiers.org/clinvar/285711 ^@ NM_001849.3(COL6A2):c.1012C>T (p.Arg338Cys) http://identifiers.org/clinvar/285712 ^@ NM_001849.3(COL6A2):c.1053+1G>A http://identifiers.org/clinvar/285713 ^@ NM_012210.3(TRIM32):c.1004G>A (p.Ser335Asn) http://identifiers.org/clinvar/285714 ^@ NM_005572.3(LMNA):c.1609-8C>T http://identifiers.org/clinvar/285715 ^@ NM_004006.2(DMD):c.3936G>C (p.Leu1312Phe) http://identifiers.org/clinvar/285716 ^@ NM_015295.2(SMCHD1):c.1421delG (p.Cys474Phefs) http://identifiers.org/clinvar/285717 ^@ NM_000231.2(SGCG):c.455C>T (p.Thr152Ile) http://identifiers.org/clinvar/285718 ^@ NM_001849.3(COL6A2):c.2785G>A (p.Val929Met) http://identifiers.org/clinvar/285719 ^@ NM_001101426.3(ISPD):c.1161A>T (p.Lys387Asn) http://identifiers.org/clinvar/285720 ^@ NM_024301.4(FKRP):c.969C>T (p.Arg323=) http://identifiers.org/clinvar/285721 ^@ NM_001849.3(COL6A2):c.332C>T (p.Pro111Leu) http://identifiers.org/clinvar/285722 ^@ NM_001243766.1(POMGNT1):c.120+3A>G http://identifiers.org/clinvar/285723 ^@ NM_033071.3(SYNE1):c.6505A>T (p.Ser2169Cys) http://identifiers.org/clinvar/285724 ^@ NM_024301.4(FKRP):c.531G>A (p.Glu177=) http://identifiers.org/clinvar/285725 ^@ NM_170707.3(LMNA):c.498G>A (p.Arg166=) http://identifiers.org/clinvar/285726 ^@ NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys) http://identifiers.org/clinvar/285727 ^@ NM_213599.2(ANO5):c.1429A>G (p.Met477Val) http://identifiers.org/clinvar/285728 ^@ NM_000070.2(CAPN3):c.2311G>A (p.Ala771Thr) http://identifiers.org/clinvar/285729 ^@ NM_033071.3(SYNE1):c.11722C>A (p.Arg3908Ser) http://identifiers.org/clinvar/285730 ^@ NM_001849.3(COL6A2):c.2656G>A (p.Gly886Ser) http://identifiers.org/clinvar/285731 ^@ NM_001848.2(COL6A1):c.2148G>A (p.Pro716=) http://identifiers.org/clinvar/285732 ^@ NM_033071.3(SYNE1):c.6275T>C (p.Ile2092Thr) http://identifiers.org/clinvar/285733 ^@ NM_201381.2(PLEC):c.7727C>T (p.Ala2576Val) http://identifiers.org/clinvar/285734 ^@ NM_000152.4(GAA):c.2418G>A (p.Thr806=) http://identifiers.org/clinvar/285735 ^@ NM_024301.4(FKRP):c.85C>T (p.His29Tyr) http://identifiers.org/clinvar/285736 ^@ NM_000023.3(SGCA):c.623C>T (p.Thr208Ile) http://identifiers.org/clinvar/285737 ^@ NM_001130987.1(DYSF):c.6019T>C (p.Trp2007Arg) http://identifiers.org/clinvar/285738 ^@ NM_033071.3(SYNE1):c.25823T>C (p.Leu8608Pro) http://identifiers.org/clinvar/285739 ^@ NM_015295.2(SMCHD1):c.3277-5C>T http://identifiers.org/clinvar/285740 ^@ NM_015295.2(SMCHD1):c.3381A>G (p.Ser1127=) http://identifiers.org/clinvar/285741 ^@ NM_003494.3(DYSF):c.4663C>T (p.Pro1555Ser) http://identifiers.org/clinvar/285742 ^@ NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) http://identifiers.org/clinvar/285743 ^@ NM_201382.3(PLEC):c.5301G>T (p.Leu1767=) http://identifiers.org/clinvar/285744 ^@ NM_001130987.1(DYSF):c.5044C>T (p.Leu1682=) http://identifiers.org/clinvar/285745 ^@ NM_004006.2(DMD):c.31+114A>T http://identifiers.org/clinvar/285747 ^@ NM_003494.3(DYSF):c.1865A>C (p.Asn622Thr) http://identifiers.org/clinvar/285748 ^@ NM_004369.3(COL6A3):c.6354+1G>A http://identifiers.org/clinvar/285749 ^@ NM_000232.4(SGCB):c.430-5dupT http://identifiers.org/clinvar/285750 ^@ NM_001130987.1(DYSF):c.5264A>T (p.Tyr1755Phe) http://identifiers.org/clinvar/285751 ^@ NM_001267550.2(TTN):c.66921A>C (p.Gly22307=) http://identifiers.org/clinvar/285752 ^@ NM_014384.2(ACAD8):c.1092+3_1092+6delAAGT http://identifiers.org/clinvar/285753 ^@ NM_001012720.1(RGR):c.19C>T (p.Leu7=) http://identifiers.org/clinvar/285754 ^@ NM_001012720.1(RGR):c.27T>C (p.Thr9=) http://identifiers.org/clinvar/285755 ^@ NM_005529.6(HSPG2):c.3897G>A (p.Val1299=) http://identifiers.org/clinvar/285756 ^@ NM_000390.3(CHM):c.715C>T (p.Arg239Ter) http://identifiers.org/clinvar/285758 ^@ NM_005572.3(LMNA):c.937-22_937-10delAAACCCTCCCACC http://identifiers.org/clinvar/285759 ^@ NM_033071.3(SYNE1):c.17173_17174delGCinsAA (p.Ala5725Asn) http://identifiers.org/clinvar/285760 ^@ NM_002653.4(PITX1):c.418C>A (p.Arg140=) http://identifiers.org/clinvar/285761 ^@ NM_138694.3(PKHD1):c.707+1G>A http://identifiers.org/clinvar/285762 ^@ NM_000514.3(GDNF):c.61C>T (p.Pro21Ser) http://identifiers.org/clinvar/285763 ^@ NM_001172435.1(RAB3GAP1):c.612delC (p.Leu205Tyrfs) http://identifiers.org/clinvar/285764 ^@ NM_001172435.1(RAB3GAP1):c.475_478delACTG (p.Thr159Alafs) http://identifiers.org/clinvar/285766 ^@ NM_000399.4(EGR2):c.627A= (p.Pro209=) http://identifiers.org/clinvar/285767 ^@ NM_007171.3(POMT1):c.1080C>T (p.His360=) http://identifiers.org/clinvar/285768 ^@ NM_000833.4(GRIN2A):c.4353A>T (p.Arg1451Ser) http://identifiers.org/clinvar/285769 ^@ NM_012186.2(FOXE3):c.295C>T (p.Arg99Cys) http://identifiers.org/clinvar/285770 ^@ NM_000104.3(CYP1B1):c.415G>A (p.Glu139Lys) http://identifiers.org/clinvar/285771 ^@ NM_003060.3(SLC22A5):c.35G>A (p.Gly12Asp) http://identifiers.org/clinvar/285772 ^@ NM_002435.2(MPI):c.612T>G (p.Ser204Arg) http://identifiers.org/clinvar/285773 ^@ NM_001145414.3(CHM):c.117-7G>T http://identifiers.org/clinvar/285774 ^@ NM_000441.1(SLC26A4):c.1852G>A (p.Asp618Asn) http://identifiers.org/clinvar/285775 ^@ NM_000425.4(L1CAM):c.1107C>T (p.Asn369=) http://identifiers.org/clinvar/285776 ^@ NM_000284.3(PDHA1):c.1133G>T (p.Arg378Leu) http://identifiers.org/clinvar/285777 ^@ NM_006208.2(ENPP1):c.-13G>A http://identifiers.org/clinvar/285778 ^@ NM_001173467.2(SP7):c.1098C>T (p.Ser366=) http://identifiers.org/clinvar/285779 ^@ NM_001173467.2(SP7):c.1128T>C (p.His376=) http://identifiers.org/clinvar/285780 ^@ NM_138694.3(PKHD1):c.3731A>C (p.Glu1244Ala) http://identifiers.org/clinvar/285781 ^@ NM_138694.3(PKHD1):c.4017G>C (p.Glu1339Asp) http://identifiers.org/clinvar/285782 ^@ NM_138694.3(PKHD1):c.4265G>C (p.Arg1422Pro) http://identifiers.org/clinvar/285783 ^@ NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg) http://identifiers.org/clinvar/285784 ^@ NM_004006.2(DMD):c.1594C>T (p.Gln532Ter) http://identifiers.org/clinvar/285785 ^@ NM_004006.2(DMD):c.3786+16T>C http://identifiers.org/clinvar/285786 ^@ NM_001010892.2(RSPH4A):c.111_125delTGAGTCGTCTGAGCC (p.Glu38_Pro42del) http://identifiers.org/clinvar/285787 ^@ NM_173477.4(USH1G):c.522C>T (p.Asp174=) http://identifiers.org/clinvar/285788 ^@ NM_207361.5(FREM2):c.5954dupT (p.Met1985Ilefs) http://identifiers.org/clinvar/285789 ^@ NM_207361.5(FREM2):c.4588G>C (p.Asp1530His) http://identifiers.org/clinvar/285790 ^@ NM_000082.3(ERCC8):c.42C>T (p.Asp14=) http://identifiers.org/clinvar/285791 ^@ NM_178138.5(LHX3):c.80-10G>A http://identifiers.org/clinvar/285792 ^@ NM_001005207.3(TRIM37):c.2240A>G (p.Asn747Ser) http://identifiers.org/clinvar/285793 ^@ NM_152564.4(VPS13B):c.7248C>T (p.Ser2416=) http://identifiers.org/clinvar/285794 ^@ NM_000101.3(CYBA):c.204-4C>A http://identifiers.org/clinvar/285795 ^@ NM_002473.5(MYH9):c.4150G>C (p.Glu1384Gln) http://identifiers.org/clinvar/285796 ^@ NM_001130823.2(DNMT1):c.2728G>T (p.Val910Leu) http://identifiers.org/clinvar/285797 ^@ NM_006783.4(GJB6):c.695C>A (p.Pro232His) http://identifiers.org/clinvar/285798 ^@ NM_001039141.2(TRIOBP):c.1283C>G (p.Pro428Arg) http://identifiers.org/clinvar/285799 ^@ NM_206933.2(USH2A):c.1438G>A (p.Val480Ile) http://identifiers.org/clinvar/285800 ^@ NM_001130823.2(DNMT1):c.3949-5C>G http://identifiers.org/clinvar/285801 ^@ NM_001130823.2(DNMT1):c.2721-10T>A http://identifiers.org/clinvar/285802 ^@ NM_001453.2(FOXC1):c.537G>A (p.Ala179=) http://identifiers.org/clinvar/285803 ^@ NM_001614.3(ACTG1):c.323C>T (p.Ala108Val) http://identifiers.org/clinvar/285804 ^@ NM_001130987.1(DYSF):c.5094C>T (p.Ile1698=) http://identifiers.org/clinvar/285805 ^@ NM_000093.4(COL5A1):c.82_84dupCTG (p.Leu28_Trp29insLeu) http://identifiers.org/clinvar/285806 ^@ NM_182914.2(SYNE2):c.3532T>C (p.Leu1178=) http://identifiers.org/clinvar/285807 ^@ NM_015295.2(SMCHD1):c.3634-10dupT http://identifiers.org/clinvar/285808 ^@ NM_001130987.1(DYSF):c.5202G>T (p.Gln1734His) http://identifiers.org/clinvar/285809 ^@ NM_001849.3(COL6A2):c.-6G>A http://identifiers.org/clinvar/285810 ^@ NM_004369.3(COL6A3):c.8007C>T (p.His2669=) http://identifiers.org/clinvar/285811 ^@ NM_033071.3(SYNE1):c.24841A>G (p.Ser8281Gly) http://identifiers.org/clinvar/285812 ^@ NM_007171.3(POMT1):c.586G>A (p.Ala196Thr) http://identifiers.org/clinvar/285813 ^@ NM_003494.3(DYSF):c.1402C>T (p.Arg468Cys) http://identifiers.org/clinvar/285814 ^@ NM_033071.3(SYNE1):c.13587A>G (p.Thr4529=) http://identifiers.org/clinvar/285815 ^@ NM_033071.3(SYNE1):c.17329-7G>A http://identifiers.org/clinvar/285816 ^@ NM_001449.4(FHL1):c.813G>T (p.Val271=) http://identifiers.org/clinvar/285817 ^@ NM_000070.2(CAPN3):c.2184G>A (p.Gln728=) http://identifiers.org/clinvar/285818 ^@ NM_000023.3(SGCA):c.403C>T (p.Gln135Ter) http://identifiers.org/clinvar/285819 ^@ NM_000070.2(CAPN3):c.639dupT (p.Gly214Trpfs) http://identifiers.org/clinvar/285820 ^@ NM_001849.3(COL6A2):c.1031G>A (p.Cys344Tyr) http://identifiers.org/clinvar/285821 ^@ NM_000152.4(GAA):c.2051C>T (p.Pro684Leu) http://identifiers.org/clinvar/285822 ^@ NM_003494.3(DYSF):c.912C>T (p.Asp304=) http://identifiers.org/clinvar/285823 ^@ NM_033071.3(SYNE1):c.10217G>A (p.Arg3406Gln) http://identifiers.org/clinvar/285824 ^@ NM_013382.5(POMT2):c.1229A>T (p.Asp410Val) http://identifiers.org/clinvar/285825 ^@ NM_001849.3(COL6A2):c.176T>C (p.Met59Thr) http://identifiers.org/clinvar/285826 ^@ NM_001101426.3(ISPD):c.640C>T (p.Pro214Ser) http://identifiers.org/clinvar/285827 ^@ NM_004369.3(COL6A3):c.1385A>G (p.Asn462Ser) http://identifiers.org/clinvar/285828 ^@ NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) http://identifiers.org/clinvar/285829 ^@ NM_001849.3(COL6A2):c.1660_1668delAAAGGAGAG (p.Lys554_Glu556del) http://identifiers.org/clinvar/285830 ^@ NM_001848.2(COL6A1):c.1092C>T (p.Pro364=) http://identifiers.org/clinvar/285831 ^@ NM_012210.3(TRIM32):c.524A>G (p.Lys175Arg) http://identifiers.org/clinvar/285832 ^@ NM_000232.4(SGCB):c.345C>T (p.Asp115=) http://identifiers.org/clinvar/285833 ^@ NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) http://identifiers.org/clinvar/285834 ^@ NM_001849.3(COL6A2):c.971C>G (p.Ala324Gly) http://identifiers.org/clinvar/285835 ^@ NM_007171.3(POMT1):c.1216G>A (p.Gly406Ser) http://identifiers.org/clinvar/285836 ^@ NM_001130987.1(DYSF):c.2096T>C (p.Ile699Thr) http://identifiers.org/clinvar/285837 ^@ NM_020631.4(PLEKHG5):c.665C>A (p.Thr222Lys) http://identifiers.org/clinvar/285838 ^@ NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) http://identifiers.org/clinvar/285839 ^@ NM_002047.3(GARS):c.786T>C (p.Asn262=) http://identifiers.org/clinvar/285841 ^@ NM_020533.2(MCOLN1):c.560T>C (p.Met187Thr) http://identifiers.org/clinvar/285842 ^@ NM_000124.3(ERCC6):c.813C>T (p.Phe271=) http://identifiers.org/clinvar/285843 ^@ NM_153638.3(PANK2):c.380G>T (p.Gly127Val) http://identifiers.org/clinvar/285844 ^@ NM_000487.5(ARSA):c.930C>T (p.Gly310=) http://identifiers.org/clinvar/285845 ^@ NM_002979.4(SCP2):c.648T>C (p.Phe216=) http://identifiers.org/clinvar/285846 ^@ NM_003919.2(SGCE):c.55G>A (p.Gly19Ser) http://identifiers.org/clinvar/285847 ^@ NM_015702.2(MMADHC):c.578T>C (p.Val193Ala) http://identifiers.org/clinvar/285848 ^@ NM_181332.2(NLGN4X):c.476T>C (p.Ile159Thr) http://identifiers.org/clinvar/285849 ^@ NM_003482.3(KMT2D):c.13871C>T (p.Ser4624Leu) http://identifiers.org/clinvar/285850 ^@ NM_004006.2(DMD):c.79G>C (p.Ala27Pro) http://identifiers.org/clinvar/285851 ^@ NM_000018.3(ACADVL):c.322C>G (p.Pro108Ala) http://identifiers.org/clinvar/285852 ^@ NM_000018.3(ACADVL):c.1328T>G (p.Met443Arg) http://identifiers.org/clinvar/285854 ^@ NM_000834.3(GRIN2B):c.1823T>A (p.Leu608Ter) http://identifiers.org/clinvar/285855 ^@ NM_138773.3(SLC25A46):c.885C>G (p.Tyr295Ter) http://identifiers.org/clinvar/285856 ^@ NM_000271.4(NPC1):c.467T>C (p.Met156Thr) http://identifiers.org/clinvar/285857 ^@ NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) http://identifiers.org/clinvar/285858 ^@ NM_018136.4(ASPM):c.6849C>G (p.Leu2283=) http://identifiers.org/clinvar/285859 ^@ NM_000303.2(PMM2):c.90C>G (p.Asp30Glu) http://identifiers.org/clinvar/285860 ^@ NM_020812.3(DOCK6):c.4197_4198insCATC (p.Val1400Hisfs) http://identifiers.org/clinvar/285861 ^@ NM_000322.4(PRPH2):c.367C>T (p.Arg123Trp) http://identifiers.org/clinvar/285862 ^@ NM_000053.3(ATP7B):c.1609_1610insGGTCA (p.Ile537Argfs) http://identifiers.org/clinvar/285863 ^@ NM_006904.6(PRKDC):c.3744C>T (p.Phe1248=) http://identifiers.org/clinvar/285864 ^@ NM_000080.3(CHRNE):c.1093delG (p.Ala365Profs) http://identifiers.org/clinvar/285865 ^@ NM_006765.3(TUSC3):c.863-2A>G http://identifiers.org/clinvar/285866 ^@ NM_025009.4(CEP135):c.3230G>A (p.Arg1077Gln) http://identifiers.org/clinvar/285867 ^@ NM_006904.6(PRKDC):c.5559C>T (p.Ser1853=) http://identifiers.org/clinvar/285868 ^@ NM_001145026.1(PTPRQ):c.5390-1G>T http://identifiers.org/clinvar/285869 ^@ NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs) http://identifiers.org/clinvar/285870 ^@ NM_001042432.1(CLN3):c.17delG (p.Gly6Alafs) http://identifiers.org/clinvar/285871 ^@ NM_015929.3(LIPT1):c.875C>G (p.Ser292Ter) http://identifiers.org/clinvar/285872 ^@ NM_032382.4(COG8):c.1079G>A (p.Gly360Glu) http://identifiers.org/clinvar/285873 ^@ NM_015215.3(CAMTA1):c.4369C>T (p.Arg1457Ter) http://identifiers.org/clinvar/285874 ^@ NM_024740.2(ALG9):c.1436G>A (p.Trp479Ter) http://identifiers.org/clinvar/285876 ^@ NM_000383.3(AIRE):c.1066C>T (p.Arg356Trp) http://identifiers.org/clinvar/285877 ^@ NM_012193.3(FZD4):c.118G>C (p.Glu40Gln) http://identifiers.org/clinvar/285878 ^@ NM_015046.5(SETX):c.3056C>A (p.Ser1019Tyr) http://identifiers.org/clinvar/285879 ^@ NM_201253.2(CRB1):c.2809G>A (p.Ala937Thr) http://identifiers.org/clinvar/285880 ^@ NM_015046.5(SETX):c.1880T>C (p.Met627Thr) http://identifiers.org/clinvar/285881 ^@ NM_000053.3(ATP7B):c.2479C>T (p.Arg827Trp) http://identifiers.org/clinvar/285882 ^@ NM_020964.2(EPG5):c.1497+1G>T http://identifiers.org/clinvar/285883 ^@ NM_000053.3(ATP7B):c.2955C>T (p.Cys985=) http://identifiers.org/clinvar/285884 ^@ NM_000338.2(SLC12A1):c.1089A>G (p.Ala363=) http://identifiers.org/clinvar/285885 ^@ NM_006059.3(LAMC3):c.4705G>A (p.Glu1569Lys) http://identifiers.org/clinvar/285886 ^@ NM_016454.3(EMC4):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/285887 ^@ NM_000338.2(SLC12A1):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/285888 ^@ NM_002609.3(PDGFRB):c.946G>A (p.Val316Met) http://identifiers.org/clinvar/285889 ^@ NM_002633.2(PGM1):c.1264C>T (p.Arg422Trp) http://identifiers.org/clinvar/285890 ^@ NM_173602.2(DIP2B):c.2755C>A (p.Gln919Lys) http://identifiers.org/clinvar/285891 ^@ NM_001168235.1(FREM3):c.5728C>T (p.Arg1910Ter) http://identifiers.org/clinvar/285892 ^@ NM_015545.3(PTCD1):c.1978C>T (p.Gln660Ter) http://identifiers.org/clinvar/285893 ^@ NM_020920.3(CHD8):c.5198C>T (p.Thr1733Ile) http://identifiers.org/clinvar/285894 ^@ NM_000782.4(CYP24A1):c.469C>T (p.Arg157Trp) http://identifiers.org/clinvar/285895 ^@ NM_012335.3(MYO1F):c.886C>T (p.Arg296Ter) http://identifiers.org/clinvar/285896 ^@ NM_000321.2(RB1):c.1510C>T (p.Gln504Ter) http://identifiers.org/clinvar/285897 ^@ NM_000023.3(SGCA):c.468C>T (p.Arg156=) http://identifiers.org/clinvar/285898 ^@ NM_000751.2(CHRND):c.1125G>A (p.Val375=) http://identifiers.org/clinvar/285899 ^@ NM_022464.4(SIL1):c.1167C>T (p.Pro389=) http://identifiers.org/clinvar/285900 ^@ NM_001006657.1(WDR35):c.3405G>A (p.Gly1135=) http://identifiers.org/clinvar/285901 ^@ NM_001039.3(SCNN1G):c.699C>T (p.His233=) http://identifiers.org/clinvar/285902 ^@ NM_032119.3(ADGRV1):c.4550G>T (p.Arg1517Ile) http://identifiers.org/clinvar/285903 ^@ NM_198428.2(BBS9):c.1308T>C (p.Leu436=) http://identifiers.org/clinvar/285904 ^@ NM_000554.5(CRX):c.102C>T (p.Ser34=) http://identifiers.org/clinvar/285905 ^@ NM_002977.3(SCN9A):c.1177C>T (p.Leu393=) http://identifiers.org/clinvar/285906 ^@ NM_021734.4(SLC25A19):c.504C>T (p.Ser168=) http://identifiers.org/clinvar/285907 ^@ NM_025243.3(SLC19A3):c.325G>A (p.Val109Ile) http://identifiers.org/clinvar/285908 ^@ NM_018136.4(ASPM):c.8829G>A (p.Trp2943Ter) http://identifiers.org/clinvar/285909 ^@ NM_001040142.1(SCN2A):c.2713A>G (p.Lys905Glu) http://identifiers.org/clinvar/285910 ^@ NM_000833.4(GRIN2A):c.2415C>T (p.Asn805=) http://identifiers.org/clinvar/285911 ^@ NM_053025.3(MYLK):c.2643G>A (p.Gln881=) http://identifiers.org/clinvar/285912 ^@ NM_000393.4(COL5A2):c.961-3delT http://identifiers.org/clinvar/285913 ^@ NM_002334.3(LRP4):c.2815-6T>G http://identifiers.org/clinvar/285914 ^@ NM_020754.3(ARHGAP31):c.1618A>G (p.Lys540Glu) http://identifiers.org/clinvar/285915 ^@ NM_025114.3(CEP290):c.3102A>G (p.Leu1034=) http://identifiers.org/clinvar/285916 ^@ NM_001793.5(CDH3):c.345T>C (p.Ser115=) http://identifiers.org/clinvar/285917 ^@ NM_004625.3(WNT7A):c.269G>A (p.Arg90His) http://identifiers.org/clinvar/285918 ^@ NM_022124.5(CDH23):c.6440C>A (p.Thr2147Asn) http://identifiers.org/clinvar/285919 ^@ NM_022124.5(CDH23):c.8225C>T (p.Pro2742Leu) http://identifiers.org/clinvar/285920 ^@ NM_001110556.1(FLNA):c.2339_2340insAA (p.Lys781Thrfs) http://identifiers.org/clinvar/285921 ^@ NM_004006.2(DMD):c.1150-1G>A http://identifiers.org/clinvar/285922 ^@ NM_003482.3(KMT2D):c.9041_9042delTG (p.Leu3014Argfs) http://identifiers.org/clinvar/285923 ^@ NM_003494.3(DYSF):c.617C>T (p.Ala206Val) http://identifiers.org/clinvar/285924 ^@ NM_001267550.2(TTN):c.5739C>T (p.Thr1913=) http://identifiers.org/clinvar/285925 ^@ NM_001165928.3(DAG1):c.1206C>T (p.Arg402=) http://identifiers.org/clinvar/285926 ^@ NM_182961.3(SYNE1):c.21863A>G (p.Asp7288Gly) http://identifiers.org/clinvar/285927 ^@ NM_000070.2(CAPN3):c.380-18_380-3del16 http://identifiers.org/clinvar/285928 ^@ NM_033071.3(SYNE1):c.21266C>T (p.Thr7089Ile) http://identifiers.org/clinvar/285929 ^@ NM_000023.3(SGCA):c.89C>T (p.Pro30Leu) http://identifiers.org/clinvar/285930 ^@ NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) http://identifiers.org/clinvar/285931 ^@ NM_000023.3(SGCA):c.764C>T (p.Pro255Leu) http://identifiers.org/clinvar/285932 ^@ NM_000232.4(SGCB):c.33+9G>A http://identifiers.org/clinvar/285933 ^@ NM_013382.5(POMT2):c.1620G>A (p.Glu540=) http://identifiers.org/clinvar/285934 ^@ NM_006790.2(MYOT):c.531+4G>C http://identifiers.org/clinvar/285935 ^@ NM_033071.3(SYNE1):c.14514G>A (p.Gly4838=) http://identifiers.org/clinvar/285936 ^@ NM_001128227.2(GNE):c.268C>T (p.Arg90Ter) http://identifiers.org/clinvar/285937 ^@ NM_033071.3(SYNE1):c.10417C>G (p.Leu3473Val) http://identifiers.org/clinvar/285938 ^@ NM_170707.3(LMNA):c.851T>C (p.Leu284Pro) http://identifiers.org/clinvar/285939 ^@ NM_182914.2(SYNE2):c.19552_19554delCTA (p.Leu6519del) http://identifiers.org/clinvar/285940 ^@ NM_006790.2(MYOT):c.1411T>C (p.Leu471=) http://identifiers.org/clinvar/285941 ^@ NM_015295.2(SMCHD1):c.5757A>G (p.Leu1919=) http://identifiers.org/clinvar/285942 ^@ NM_213599.2(ANO5):c.1627dupA (p.Met543Asnfs) http://identifiers.org/clinvar/285943 ^@ NM_003494.3(DYSF):c.1984T>A (p.Ser662Thr) http://identifiers.org/clinvar/285944 ^@ NM_182914.2(SYNE2):c.6714+6G>T http://identifiers.org/clinvar/285945 ^@ NM_207346.2(TSEN54):c.1166_1167delAGinsCC (p.Gln389Pro) http://identifiers.org/clinvar/285946 ^@ NM_006412.3(AGPAT2):c.282delC (p.Ile94Metfs) http://identifiers.org/clinvar/285947 ^@ NM_002653.4(PITX1):c.262A>C (p.Lys88Gln) http://identifiers.org/clinvar/285948 ^@ NM_025114.3(CEP290):c.4437+1G>A http://identifiers.org/clinvar/285949 ^@ NM_000525.3(KCNJ11):c.661C>G (p.Arg221Gly) http://identifiers.org/clinvar/285950 ^@ NM_002977.3(SCN9A):c.4077T>C (p.Cys1359=) http://identifiers.org/clinvar/285951 ^@ NM_018136.4(ASPM):c.4417T>G (p.Ser1473Ala) http://identifiers.org/clinvar/285952 ^@ NM_001083961.1(WDR62):c.4481A>G (p.Tyr1494Cys) http://identifiers.org/clinvar/285953 ^@ NM_000548.4(TSC2):c.1600-9T>C http://identifiers.org/clinvar/285954 ^@ NM_000784.3(CYP27A1):c.120C>T (p.Ala40=) http://identifiers.org/clinvar/285955 ^@ NM_020920.3(CHD8):c.4822C>G (p.Leu1608Val) http://identifiers.org/clinvar/285956 ^@ NM_001848.2(COL6A1):c.2165G>A (p.Arg722His) http://identifiers.org/clinvar/285957 ^@ NM_015295.2(SMCHD1):c.1138A>G (p.Met380Val) http://identifiers.org/clinvar/285958 ^@ NM_024301.4(FKRP):c.1316T>A (p.Val439Glu) http://identifiers.org/clinvar/285959 ^@ NM_004369.3(COL6A3):c.6342G>A (p.Leu2114=) http://identifiers.org/clinvar/285960 ^@ NM_015295.2(SMCHD1):c.4320C>T (p.Asp1440=) http://identifiers.org/clinvar/285961 ^@ NM_000232.4(SGCB):c.496A>G (p.Ile166Val) http://identifiers.org/clinvar/285962 ^@ NM_001849.3(COL6A2):c.865G>T (p.Gly289Cys) http://identifiers.org/clinvar/285963 ^@ NM_001927.3(DES):c.1158C>T (p.Arg386=) http://identifiers.org/clinvar/285964 ^@ NM_000070.2(CAPN3):c.868A>T (p.Met290Leu) http://identifiers.org/clinvar/285965 ^@ NM_001849.3(COL6A2):c.736-7G>A http://identifiers.org/clinvar/285966 ^@ NM_004006.2(DMD):c.8150A>G (p.Asp2717Gly) http://identifiers.org/clinvar/285967 ^@ NM_018941.3(CLN8):c.837G>A (p.Gln279=) http://identifiers.org/clinvar/285968 ^@ NM_001267550.2(TTN):c.68990C>A (p.Thr22997Asn) http://identifiers.org/clinvar/285969 ^@ NM_006949.3(STXBP2):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/285970 ^@ NM_000243.2(MEFV):c.452G>C (p.Arg151Thr) http://identifiers.org/clinvar/285971 ^@ NM_024306.4(FA2H):c.795C>T (p.Phe265=) http://identifiers.org/clinvar/285972 ^@ NM_000798.4(DRD5):c.1184C>T (p.Ser395Phe) http://identifiers.org/clinvar/285973 ^@ NM_000159.3(GCDH):c.1261G>A (p.Ala421Thr) http://identifiers.org/clinvar/285974 ^@ NM_000429.2(MAT1A):c.596G>A (p.Arg199His) http://identifiers.org/clinvar/285975 ^@ NM_006180.4(NTRK2):c.2430C>T (p.Pro810=) http://identifiers.org/clinvar/285976 ^@ NM_005068.2(SIM1):c.1082C>T (p.Thr361Ile) http://identifiers.org/clinvar/285977 ^@ NM_024649.4(BBS1):c.1595G>A (p.Arg532Gln) http://identifiers.org/clinvar/285978 ^@ NM_005068.2(SIM1):c.279C>T (p.Phe93=) http://identifiers.org/clinvar/285979 ^@ NM_004006.2(DMD):c.1687C>A (p.Arg563Ser) http://identifiers.org/clinvar/285980 ^@ NM_000023.3(SGCA):c.586G>A (p.Val196Ile) http://identifiers.org/clinvar/285982 ^@ NM_003494.3(DYSF):c.4639-3C>T http://identifiers.org/clinvar/285983 ^@ NM_003494.3(DYSF):c.4941C>A (p.Leu1647=) http://identifiers.org/clinvar/285984 ^@ NM_004369.3(COL6A3):c.3331G>A (p.Ala1111Thr) http://identifiers.org/clinvar/285985 ^@ NM_213599.2(ANO5):c.1120-10A>G http://identifiers.org/clinvar/285986 ^@ NM_033071.3(SYNE1):c.25002C>T (p.Ser8334=) http://identifiers.org/clinvar/285987 ^@ NM_004369.3(COL6A3):c.4900+9C>T http://identifiers.org/clinvar/285988 ^@ NM_201383.2(PLEC):c.7204C>T (p.Arg2402Cys) http://identifiers.org/clinvar/285989 ^@ NM_004369.3(COL6A3):c.2497+9C>T http://identifiers.org/clinvar/285990 ^@ NM_001130987.1(DYSF):c.3574+5G>A http://identifiers.org/clinvar/285991 ^@ NM_004006.2(DMD):c.9820C>G (p.Pro3274Ala) http://identifiers.org/clinvar/285992 ^@ NM_001848.2(COL6A1):c.1539C>T (p.Pro513=) http://identifiers.org/clinvar/285993 ^@ NM_000152.4(GAA):c.2404G>A (p.Gly802Arg) http://identifiers.org/clinvar/285994 ^@ NM_001267550.2(TTN):c.31105G>A (p.Glu10369Lys) http://identifiers.org/clinvar/285995 ^@ NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter) http://identifiers.org/clinvar/285996 ^@ NM_000070.2(CAPN3):c.648C>T (p.Tyr216=) http://identifiers.org/clinvar/285997 ^@ NM_001848.2(COL6A1):c.2147C>T (p.Pro716Leu) http://identifiers.org/clinvar/285998 ^@ NM_004369.3(COL6A3):c.8632A>G (p.Thr2878Ala) http://identifiers.org/clinvar/285999 ^@ NM_015295.2(SMCHD1):c.1031G>A (p.Arg344Gln) http://identifiers.org/clinvar/286000 ^@ NM_182961.3(SYNE1):c.22153G>A (p.Asp7385Asn) http://identifiers.org/clinvar/286001 ^@ NM_001848.2(COL6A1):c.261C>T (p.Asn87=) http://identifiers.org/clinvar/286002 ^@ NM_033071.3(SYNE1):c.18409C>G (p.Gln6137Glu) http://identifiers.org/clinvar/286003 ^@ NM_001849.3(COL6A2):c.612C>T (p.Ile204=) http://identifiers.org/clinvar/286004 ^@ NM_033071.3(SYNE1):c.16497+4A>G http://identifiers.org/clinvar/286005 ^@ NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) http://identifiers.org/clinvar/286006 ^@ NM_007171.3(POMT1):c.1595C>T (p.Ala532Val) http://identifiers.org/clinvar/286007 ^@ NM_001165928.3(DAG1):c.372T>G (p.Thr124=) http://identifiers.org/clinvar/286008 ^@ NM_182961.3(SYNE1):c.10761C>T (p.Ser3587=) http://identifiers.org/clinvar/286009 ^@ NM_213599.2(ANO5):c.1333-9A>G http://identifiers.org/clinvar/286010 ^@ NM_182961.3(SYNE1):c.23403C>G (p.Ser7801Arg) http://identifiers.org/clinvar/286011 ^@ NM_001849.3(COL6A2):c.1522-9C>T http://identifiers.org/clinvar/286012 ^@ NM_033071.3(SYNE1):c.4171-5dupT http://identifiers.org/clinvar/286013 ^@ NM_000023.3(SGCA):c.34G>A (p.Val12Met) http://identifiers.org/clinvar/286014 ^@ NM_001128227.2(GNE):c.1891G>A (p.Ala631Thr) http://identifiers.org/clinvar/286015 ^@ NM_033071.3(SYNE1):c.25081A>G (p.Ser8361Gly) http://identifiers.org/clinvar/286016 ^@ NM_000445.4(PLEC):c.12297C>T (p.Phe4099=) http://identifiers.org/clinvar/286017 ^@ NM_004369.3(COL6A3):c.4510C>A (p.Arg1504=) http://identifiers.org/clinvar/286018 ^@ NM_000152.4(GAA):c.1332T>C (p.Pro444=) http://identifiers.org/clinvar/286019 ^@ NM_213599.2(ANO5):c.1103C>T (p.Thr368Met) http://identifiers.org/clinvar/286020 ^@ NM_033071.3(SYNE1):c.5362A>T (p.Ile1788Phe) http://identifiers.org/clinvar/286021 ^@ NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) http://identifiers.org/clinvar/286022 ^@ NM_004369.3(COL6A3):c.9394C>T (p.Pro3132Ser) http://identifiers.org/clinvar/286023 ^@ NM_015295.2(SMCHD1):c.2261-13_2261-7dupTTCTTTT http://identifiers.org/clinvar/286024 ^@ NM_001848.2(COL6A1):c.2733C>T (p.Asn911=) http://identifiers.org/clinvar/286025 ^@ NM_000023.3(SGCA):c.197T>A (p.Leu66His) http://identifiers.org/clinvar/286026 ^@ NM_001101426.3(ISPD):c.44G>T (p.Gly15Val) http://identifiers.org/clinvar/286027 ^@ NM_001849.3(COL6A2):c.2659G>A (p.Glu887Lys) http://identifiers.org/clinvar/286028 ^@ NM_033071.3(SYNE1):c.17296C>A (p.Pro5766Thr) http://identifiers.org/clinvar/286029 ^@ NM_004369.3(COL6A3):c.6132G>T (p.Gly2044=) http://identifiers.org/clinvar/286030 ^@ NM_007171.3(POMT1):c.1183G>C (p.Val395Leu) http://identifiers.org/clinvar/286031 ^@ NM_001848.2(COL6A1):c.2464+9C>T http://identifiers.org/clinvar/286032 ^@ NM_006731.2(FKTN):c.443A>G (p.Asp148Gly) http://identifiers.org/clinvar/286033 ^@ NM_033071.3(SYNE1):c.14425G>C (p.Glu4809Gln) http://identifiers.org/clinvar/286034 ^@ NM_000152.4(GAA):c.1434G>A (p.Gly478=) http://identifiers.org/clinvar/286035 ^@ NM_001101426.3(ISPD):c.136G>C (p.Ala46Pro) http://identifiers.org/clinvar/286036 ^@ NM_001101426.3(ISPD):c.52C>T (p.Leu18=) http://identifiers.org/clinvar/286037 ^@ NM_201380.3(PLEC):c.2869-7G>A http://identifiers.org/clinvar/286038 ^@ NM_000445.4(PLEC):c.11499C>T (p.Thr3833=) http://identifiers.org/clinvar/286039 ^@ NM_004006.2(DMD):c.179_180insGGGCA (p.Lys61Glyfs) http://identifiers.org/clinvar/286040 ^@ NM_000303.2(PMM2):c.352A>G (p.Thr118Ala) http://identifiers.org/clinvar/286041 ^@ NM_004369.3(COL6A3):c.5652C>T (p.Thr1884=) http://identifiers.org/clinvar/286042 ^@ NM_033071.3(SYNE1):c.6990G>A (p.Val2330=) http://identifiers.org/clinvar/286043 ^@ NM_058246.3(DNAJB6):c.410C>T (p.Thr137Met) http://identifiers.org/clinvar/286044 ^@ NM_000070.2(CAPN3):c.1082G>A (p.Gly361Asp) http://identifiers.org/clinvar/286045 ^@ NM_004369.3(COL6A3):c.3859A>T (p.Asn1287Tyr) http://identifiers.org/clinvar/286046 ^@ NM_001849.3(COL6A2):c.492C>T (p.His164=) http://identifiers.org/clinvar/286047 ^@ NM_001848.2(COL6A1):c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs) http://identifiers.org/clinvar/286048 ^@ NM_000070.2(CAPN3):c.183C>T (p.Phe61=) http://identifiers.org/clinvar/286049 ^@ NM_000023.3(SGCA):c.409G>A (p.Glu137Lys) http://identifiers.org/clinvar/286050 ^@ NM_138412.3(RDH13):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/286051 ^@ NM_004550.4(NDUFS2):c.424G>A (p.Val142Met) http://identifiers.org/clinvar/286052 ^@ NM_004586.2(RPS6KA3):c.1539_1542delACGA (p.Glu515Profs) http://identifiers.org/clinvar/286053 ^@ NM_004565.2(PEX14):c.795A>G (p.Ser265=) http://identifiers.org/clinvar/286054 ^@ NM_006294.4(UQCRB):c.306_309delAAAA (p.Arg105Lysfs) http://identifiers.org/clinvar/286055 ^@ NM_025219.2(DNAJC5):c.339C>T (p.Cys113=) http://identifiers.org/clinvar/286056 ^@ NM_003159.2(CDKL5):c.212delA (p.Asn71Thrfs) http://identifiers.org/clinvar/286057 ^@ NM_018136.4(ASPM):c.7002G>T (p.Met2334Ile) http://identifiers.org/clinvar/286058 ^@ NM_018100.3(EFHC1):c.564A>G (p.Gln188=) http://identifiers.org/clinvar/286059 ^@ NM_021007.2(SCN2A):c.3210C>T (p.Asp1070=) http://identifiers.org/clinvar/286060 ^@ NM_024596.4(MCPH1):c.1781C>T (p.Thr594Met) http://identifiers.org/clinvar/286061 ^@ NM_005413.3(SIX3):c.876C>G (p.Gly292=) http://identifiers.org/clinvar/286062 ^@ NM_012301.3(MAGI2):c.644G>A (p.Arg215Gln) http://identifiers.org/clinvar/286063 ^@ NM_174963.3(ST3GAL3):c.1252A>T (p.Thr418Ser) http://identifiers.org/clinvar/286064 ^@ NM_006348.3(COG5):c.1130C>T (p.Pro377Leu) http://identifiers.org/clinvar/286065 ^@ NM_001040168.1(LFNG):c.573C>T (p.Ser191=) http://identifiers.org/clinvar/286066 ^@ NM_194456.1(KRIT1):c.715C>T (p.Gln239Ter) http://identifiers.org/clinvar/286067 ^@ NM_001369.2(DNAH5):c.8925C>T (p.Tyr2975=) http://identifiers.org/clinvar/286068 ^@ NM_206933.2(USH2A):c.9008T>C (p.Val3003Ala) http://identifiers.org/clinvar/286069 ^@ NM_020822.2(KCNT1):c.1253G>A (p.Arg418Lys) http://identifiers.org/clinvar/286070 ^@ NM_021072.3(HCN1):c.242T>A (p.Phe81Tyr) http://identifiers.org/clinvar/286071 ^@ NM_018451.4(CENPJ):c.3663G>A (p.Pro1221=) http://identifiers.org/clinvar/286072 ^@ NM_012301.3(MAGI2):c.1737C>T (p.Asp579=) http://identifiers.org/clinvar/286073 ^@ NM_005592.3(MUSK):c.1941C>T (p.Val647=) http://identifiers.org/clinvar/286074 ^@ NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) http://identifiers.org/clinvar/286076 ^@ NM_144966.5(FREM1):c.241G>A (p.Asp81Asn) http://identifiers.org/clinvar/286077 ^@ NM_000642.2(AGL):c.1087G>A (p.Gly363Arg) http://identifiers.org/clinvar/286078 ^@ NM_001164277.1(SLC37A4):c.785-7A>G http://identifiers.org/clinvar/286079 ^@ NM_006949.3(STXBP2):c.1188G>A (p.Ala396=) http://identifiers.org/clinvar/286080 ^@ NM_000195.4(HPS1):c.483G>T (p.Glu161Asp) http://identifiers.org/clinvar/286081 ^@ NM_000192.3(TBX5):c.1151C>T (p.Ala384Val) http://identifiers.org/clinvar/286082 ^@ NM_030753.4(WNT3):c.429G>A (p.Ser143=) http://identifiers.org/clinvar/286083 ^@ NM_014918.4(CHSY1):c.1307A>G (p.Tyr436Cys) http://identifiers.org/clinvar/286084 ^@ NM_006037.3(HDAC4):c.2175G>A (p.Thr725=) http://identifiers.org/clinvar/286085 ^@ NM_022039.3(FBXW4):c.-9G>A http://identifiers.org/clinvar/286086 ^@ NM_000046.3(ARSB):c.1373A>G (p.Asn458Ser) http://identifiers.org/clinvar/286087 ^@ NM_001145809.1(MYH14):c.1006C>T (p.Arg336Trp) http://identifiers.org/clinvar/286088 ^@ NM_022124.5(CDH23):c.9437C>T (p.Ala3146Val) http://identifiers.org/clinvar/286089 ^@ NM_206933.2(USH2A):c.5410A>G (p.Ile1804Val) http://identifiers.org/clinvar/286090 ^@ NM_001163213.1(FGFR3):c.1602C>T (p.Ile534=) http://identifiers.org/clinvar/286091 ^@ NM_001038603.2(MARVELD2):c.1327G>A (p.Val443Met) http://identifiers.org/clinvar/286092 ^@ NM_080680.2(COL11A2):c.2300A>G (p.Glu767Gly) http://identifiers.org/clinvar/286093 ^@ NM_005219.4(DIAPH1):c.343G>A (p.Glu115Lys) http://identifiers.org/clinvar/286094 ^@ NM_012188.4(FOXI1):c.902C>T (p.Thr301Ile) http://identifiers.org/clinvar/286095 ^@ NM_000260.3(MYO7A):c.5227C>A (p.Arg1743=) http://identifiers.org/clinvar/286096 ^@ NM_002968.2(SALL1):c.1911G>A (p.Ala637=) http://identifiers.org/clinvar/286097 ^@ NM_133261.2(GIPC3):c.371T>C (p.Leu124Pro) http://identifiers.org/clinvar/286098 ^@ NM_014208.3(DSPP):c.1776C>T (p.Asp592=) http://identifiers.org/clinvar/286099 ^@ NM_020451.2(SELENON):c.1535C>T (p.Ala512Val) http://identifiers.org/clinvar/286100 ^@ NM_007171.3(POMT1):c.912C>T (p.Ala304=) http://identifiers.org/clinvar/286101 ^@ NM_000426.3(LAMA2):c.1546G>A (p.Asp516Asn) http://identifiers.org/clinvar/286102 ^@ NM_003611.2(OFD1):c.2700C>A (p.Asn900Lys) http://identifiers.org/clinvar/286103 ^@ NM_005802.4(TOPORS):c.601A>C (p.Arg201=) http://identifiers.org/clinvar/286104 ^@ NM_206933.2(USH2A):c.1679delC (p.Pro560Leufs) http://identifiers.org/clinvar/286105 ^@ NM_153676.3(USH1C):c.1512T>C (p.Ala504=) http://identifiers.org/clinvar/286106 ^@ NM_201253.2(CRB1):c.3038A>C (p.Gln1013Pro) http://identifiers.org/clinvar/286107 ^@ NM_201253.2(CRB1):c.3878+10A>G http://identifiers.org/clinvar/286108 ^@ NM_033100.3(CDHR1):c.2229G>A (p.Arg743=) http://identifiers.org/clinvar/286109 ^@ NM_012414.3(RAB3GAP2):c.3702C>T (p.Val1234=) http://identifiers.org/clinvar/286110 ^@ NM_012463.3(ATP6V0A2):c.1458G>A (p.Ser486=) http://identifiers.org/clinvar/286111 ^@ NM_001127464.2(ZNF469):c.11193C>T (p.Ser3731=) http://identifiers.org/clinvar/286112 ^@ NM_001999.3(FBN2):c.6446T>G (p.Val2149Gly) http://identifiers.org/clinvar/286113 ^@ NM_001278074.1(COL5A1):c.4392+5G>A http://identifiers.org/clinvar/286114 ^@ NM_012463.3(ATP6V0A2):c.1521C>T (p.Ser507=) http://identifiers.org/clinvar/286115 ^@ NM_001127464.2(ZNF469):c.9041G>A (p.Arg3014His) http://identifiers.org/clinvar/286116 ^@ NM_001701.3(BAAT):c.529C>T (p.Arg177Trp) http://identifiers.org/clinvar/286117 ^@ NM_003846.2(PEX11B):c.483A>G (p.Gly161=) http://identifiers.org/clinvar/286118 ^@ NM_003742.2(ABCB11):c.235G>A (p.Val79Met) http://identifiers.org/clinvar/286119 ^@ NM_003742.2(ABCB11):c.3383G>A (p.Arg1128His) http://identifiers.org/clinvar/286120 ^@ NM_002857.3(PEX19):c.195T>C (p.Ala65=) http://identifiers.org/clinvar/286121 ^@ NM_018668.4(VPS33B):c.1714T>G (p.Phe572Val) http://identifiers.org/clinvar/286122 ^@ NM_000021.3(PSEN1):c.1263A>G (p.Thr421=) http://identifiers.org/clinvar/286123 ^@ NM_201383.2(PLEC):c.4422G>A (p.Gly1474=) http://identifiers.org/clinvar/286124 ^@ NM_000321.2(RB1):c.396delT (p.Phe132Leufs) http://identifiers.org/clinvar/286125 ^@ NM_015335.4(MED13L):c.5285delT (p.Leu1762Argfs) http://identifiers.org/clinvar/286126 ^@ NM_032634.3(PIGO):c.1810dupC (p.Arg604Profs) http://identifiers.org/clinvar/286127 ^@ NM_001006657.1(WDR35):c.3031G>T (p.Glu1011Ter) http://identifiers.org/clinvar/286128 ^@ NM_012463.3(ATP6V0A2):c.1048G>A (p.Gly350Ser) http://identifiers.org/clinvar/286129 ^@ NM_000169.2(GLA):c.1166delC (p.Pro389Leufs) http://identifiers.org/clinvar/286130 ^@ NM_000052.6(ATP7A):c.1734C>T (p.Cys578=) http://identifiers.org/clinvar/286131 ^@ NM_130837.2(OPA1):c.2816dupA (p.Arg940Alafs) http://identifiers.org/clinvar/286132 ^@ NM_019105.6(TNXB):c.2927G>A (p.Arg976His) http://identifiers.org/clinvar/286133 ^@ NM_019066.4(MAGEL2):c.1535C>T (p.Pro512Leu) http://identifiers.org/clinvar/286134 ^@ NM_020822.2(KCNT1):c.254+20T>C http://identifiers.org/clinvar/286135 ^@ NM_004369.3(COL6A3):c.1795_1796delTCinsAT (p.Ser599Ile) http://identifiers.org/clinvar/286136 ^@ NM_001042351.2(G6PD):c.305T>C (p.Phe102Ser) http://identifiers.org/clinvar/286137 ^@ NM_003477.2(PDHX):c.63C>T (p.Pro21=) http://identifiers.org/clinvar/286138 ^@ NM_001110556.1(FLNA):c.2319_2320insAA (p.Val774Lysfs) http://identifiers.org/clinvar/286139 ^@ NM_001848.2(COL6A1):c.726C>T (p.Asn242=) http://identifiers.org/clinvar/286140 ^@ NM_012470.3(TNPO3):c.2599-6A>G http://identifiers.org/clinvar/286141 ^@ NM_017617.4(NOTCH1):c.6555C>T (p.Asp2185=) http://identifiers.org/clinvar/286142 ^@ NM_017617.4(NOTCH1):c.312T>C (p.Asn104=) http://identifiers.org/clinvar/286143 ^@ NM_017617.4(NOTCH1):c.2740+12C>T http://identifiers.org/clinvar/286144 ^@ NM_001130987.1(DYSF):c.720A>G (p.Thr240=) http://identifiers.org/clinvar/286145 ^@ NM_004369.3(COL6A3):c.3501C>T (p.Ile1167=) http://identifiers.org/clinvar/286146 ^@ NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys) http://identifiers.org/clinvar/286147 ^@ NM_017739.3(POMGNT1):c.46C>T (p.Arg16Trp) http://identifiers.org/clinvar/286148 ^@ NM_033071.3(SYNE1):c.14288G>A (p.Arg4763Gln) http://identifiers.org/clinvar/286149 ^@ NM_058246.3(DNAJB6):c.775C>T (p.Pro259Ser) http://identifiers.org/clinvar/286150 ^@ NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) http://identifiers.org/clinvar/286151 ^@ NM_001130987.1(DYSF):c.5419C>T (p.Arg1807Trp) http://identifiers.org/clinvar/286152 ^@ NM_001128227.2(GNE):c.1727-7G>A http://identifiers.org/clinvar/286153 ^@ NM_001128227.2(GNE):c.2122C>T (p.His708Tyr) http://identifiers.org/clinvar/286154 ^@ NM_182914.2(SYNE2):c.4910A>G (p.Tyr1637Cys) http://identifiers.org/clinvar/286155 ^@ NM_004006.2(DMD):c.1482+1G>C http://identifiers.org/clinvar/286156 ^@ NM_001101426.3(ISPD):c.972C>A (p.Gly324=) http://identifiers.org/clinvar/286157 ^@ NM_004006.2(DMD):c.10592A>G (p.His3531Arg) http://identifiers.org/clinvar/286158 ^@ NM_004369.3(COL6A3):c.6519C>T (p.Thr2173=) http://identifiers.org/clinvar/286159 ^@ NM_182961.3(SYNE1):c.3735C>T (p.Leu1245=) http://identifiers.org/clinvar/286160 ^@ NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) http://identifiers.org/clinvar/286161 ^@ NM_007171.3(POMT1):c.57T>C (p.Leu19=) http://identifiers.org/clinvar/286162 ^@ NM_033071.3(SYNE1):c.11193A>G (p.Lys3731=) http://identifiers.org/clinvar/286163 ^@ NM_000152.4(GAA):c.1482A>G (p.Thr494=) http://identifiers.org/clinvar/286164 ^@ NM_001165928.3(DAG1):c.2510C>G (p.Pro837Arg) http://identifiers.org/clinvar/286165 ^@ NM_001243766.1(POMGNT1):c.788G>A (p.Arg263His) http://identifiers.org/clinvar/286166 ^@ NM_033071.3(SYNE1):c.11350G>A (p.Glu3784Lys) http://identifiers.org/clinvar/286167 ^@ NM_213599.2(ANO5):c.1631-12_1631-2delTTAACTTAACA http://identifiers.org/clinvar/286168 ^@ NM_003673.3(TCAP):c.447C>T (p.Pro149=) http://identifiers.org/clinvar/286169 ^@ NM_004369.3(COL6A3):c.4726C>T (p.Arg1576Trp) http://identifiers.org/clinvar/286170 ^@ NM_004369.3(COL6A3):c.8805G>A (p.Ala2935=) http://identifiers.org/clinvar/286171 ^@ NM_001130987.1(DYSF):c.1450-3_1450-2delCA http://identifiers.org/clinvar/286172 ^@ NM_005476.5(GNE):c.1872G>A (p.Ala624=) http://identifiers.org/clinvar/286173 ^@ NM_000070.2(CAPN3):c.288G>T (p.Gln96His) http://identifiers.org/clinvar/286174 ^@ NM_080916.2(DGUOK):c.353G>A (p.Arg118His) http://identifiers.org/clinvar/286175 ^@ NM_013382.5(POMT2):c.321G>A (p.Pro107=) http://identifiers.org/clinvar/286176 ^@ NM_001165928.3(DAG1):c.2171C>G (p.Pro724Arg) http://identifiers.org/clinvar/286177 ^@ NM_003494.3(DYSF):c.2050C>T (p.Arg684Trp) http://identifiers.org/clinvar/286178 ^@ NM_001159702.2(FHL1):c.254A>G (p.Asn85Ser) http://identifiers.org/clinvar/286179 ^@ NM_001848.2(COL6A1):c.1003-1G>A http://identifiers.org/clinvar/286180 ^@ NM_014244.4(ADAMTS2):c.2959-17C>T http://identifiers.org/clinvar/286181 ^@ NM_017617.4(NOTCH1):c.1555+10A>G http://identifiers.org/clinvar/286182 ^@ NM_004006.2(DMD):c.9093C>T (p.Val3031=) http://identifiers.org/clinvar/286183 ^@ NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) http://identifiers.org/clinvar/286184 ^@ NM_000337.5(SGCD):c.543T>G (p.Pro181=) http://identifiers.org/clinvar/286185 ^@ NM_000070.2(CAPN3):c.1673C>T (p.Pro558Leu) http://identifiers.org/clinvar/286186 ^@ NM_182961.3(SYNE1):c.20409A>G (p.Glu6803=) http://identifiers.org/clinvar/286187 ^@ NM_182914.2(SYNE2):c.12560A>T (p.Asn4187Ile) http://identifiers.org/clinvar/286188 ^@ NM_182961.3(SYNE1):c.21969A>G (p.Gln7323=) http://identifiers.org/clinvar/286189 ^@ NM_182914.2(SYNE2):c.13158+5T>G http://identifiers.org/clinvar/286190 ^@ NM_001243766.1(POMGNT1):c.1457G>A (p.Arg486Gln) http://identifiers.org/clinvar/286191 ^@ NM_213599.2(ANO5):c.749A>G (p.Tyr250Cys) http://identifiers.org/clinvar/286192 ^@ NM_015295.2(SMCHD1):c.244A>G (p.Ile82Val) http://identifiers.org/clinvar/286193 ^@ NM_182961.3(SYNE1):c.13596G>T (p.Val4532=) http://identifiers.org/clinvar/286194 ^@ NM_006790.2(MYOT):c.1275A>G (p.Ala425=) http://identifiers.org/clinvar/286195 ^@ NM_000070.2(CAPN3):c.2258_2260delACG (p.Asp753del) http://identifiers.org/clinvar/286196 ^@ NM_033071.3(SYNE1):c.5103T>C (p.Gly1701=) http://identifiers.org/clinvar/286197 ^@ NM_058246.3(DNAJB6):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/286198 ^@ NM_182961.3(SYNE1):c.1125C>T (p.Asp375=) http://identifiers.org/clinvar/286199 ^@ NM_033071.3(SYNE1):c.25493A>G (p.Gln8498Arg) http://identifiers.org/clinvar/286200 ^@ NM_000231.2(SGCG):c.326A>G (p.Gln109Arg) http://identifiers.org/clinvar/286201 ^@ NM_004369.3(COL6A3):c.5522T>G (p.Leu1841Arg) http://identifiers.org/clinvar/286202 ^@ NM_001101426.3(ISPD):c.934-5A>G http://identifiers.org/clinvar/286203 ^@ NM_000070.2(CAPN3):c.835T>C (p.Ser279Pro) http://identifiers.org/clinvar/286204 ^@ NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) http://identifiers.org/clinvar/286205 ^@ NM_001130987.1(DYSF):c.3857G>A (p.Gly1286Glu) http://identifiers.org/clinvar/286206 ^@ NM_004006.2(DMD):c.3080G>C (p.Gly1027Ala) http://identifiers.org/clinvar/286207 ^@ NM_001848.2(COL6A1):c.1656C>T (p.Ala552=) http://identifiers.org/clinvar/286208 ^@ NM_001849.3(COL6A2):c.2585G>A (p.Arg862Gln) http://identifiers.org/clinvar/286209 ^@ NM_001130987.1(DYSF):c.5585T>A (p.Val1862Glu) http://identifiers.org/clinvar/286210 ^@ NM_000152.4(GAA):c.2561G>A (p.Arg854Gln) http://identifiers.org/clinvar/286211 ^@ NM_000070.2(CAPN3):c.526G>T (p.Val176Leu) http://identifiers.org/clinvar/286212 ^@ NM_021939.3(FKBP10):c.1399+8G>T http://identifiers.org/clinvar/286213 ^@ NM_130837.2(OPA1):c.1498C>A (p.Arg500Ser) http://identifiers.org/clinvar/286215 ^@ NM_001849.3(COL6A2):c.801+1G>T http://identifiers.org/clinvar/286216 ^@ NM_001267550.2(TTN):c.48612C>T (p.Ala16204=) http://identifiers.org/clinvar/286217 ^@ NM_007171.3(POMT1):c.214G>T (p.Val72Leu) http://identifiers.org/clinvar/286218 ^@ NM_000070.2(CAPN3):c.1842G>C (p.Glu614Asp) http://identifiers.org/clinvar/286219 ^@ NM_000152.4(GAA):c.576G>C (p.Glu192Asp) http://identifiers.org/clinvar/286220 ^@ NM_001849.3(COL6A2):c.219C>T (p.Phe73=) http://identifiers.org/clinvar/286221 ^@ NM_001849.3(COL6A2):c.1051C>T (p.Arg351Trp) http://identifiers.org/clinvar/286222 ^@ NM_001165928.3(DAG1):c.2416G>A (p.Asp806Asn) http://identifiers.org/clinvar/286223 ^@ NM_000232.4(SGCB):c.543C>T (p.Ser181=) http://identifiers.org/clinvar/286224 ^@ NM_033071.3(SYNE1):c.8758G>T (p.Ala2920Ser) http://identifiers.org/clinvar/286225 ^@ NM_033071.3(SYNE1):c.23303T>C (p.Met7768Thr) http://identifiers.org/clinvar/286226 ^@ NM_001130987.1(DYSF):c.410delC (p.Pro137Leufs) http://identifiers.org/clinvar/286227 ^@ NM_000231.2(SGCG):c.564G>A (p.Pro188=) http://identifiers.org/clinvar/286228 ^@ NM_000152.4(GAA):c.2799+4A>G http://identifiers.org/clinvar/286229 ^@ NM_000152.4(GAA):c.2501_2502delCA (p.Thr834Argfs) http://identifiers.org/clinvar/286230 ^@ NM_015295.2(SMCHD1):c.5907C>G (p.Asp1969Glu) http://identifiers.org/clinvar/286231 ^@ NM_000070.2(CAPN3):c.1030-7G>A http://identifiers.org/clinvar/286232 ^@ NM_004369.3(COL6A3):c.7551C>T (p.Asn2517=) http://identifiers.org/clinvar/286233 ^@ NM_015295.2(SMCHD1):c.1490_1492delAGA (p.Lys497del) http://identifiers.org/clinvar/286234 ^@ NM_001849.3(COL6A2):c.2950G>A (p.Val984Met) http://identifiers.org/clinvar/286235 ^@ NM_033071.3(SYNE1):c.5146C>A (p.Gln1716Lys) http://identifiers.org/clinvar/286236 ^@ NM_015295.2(SMCHD1):c.40G>A (p.Val14Met) http://identifiers.org/clinvar/286237 ^@ NM_182961.3(SYNE1):c.15593T>C (p.Val5198Ala) http://identifiers.org/clinvar/286238 ^@ NM_000070.2(CAPN3):c.2184+3G>A http://identifiers.org/clinvar/286239 ^@ NM_182961.3(SYNE1):c.20613G>A (p.Lys6871=) http://identifiers.org/clinvar/286240 ^@ NM_170707.3(LMNA):c.1599C>T (p.Ser533=) http://identifiers.org/clinvar/286241 ^@ NM_000159.3(GCDH):c.1144G>A (p.Ala382Thr) http://identifiers.org/clinvar/286242 ^@ NM_000203.4(IDUA):c.1898C>G (p.Ser633Trp) http://identifiers.org/clinvar/286243 ^@ NM_207346.2(TSEN54):c.8_9insGGATCC (p.Pro3_Glu4insAspPro) http://identifiers.org/clinvar/286244 ^@ NM_004006.2(DMD):c.2967G>T (p.Leu989=) http://identifiers.org/clinvar/286245 ^@ NM_004006.2(DMD):c.4550_4556delCTGAAGT (p.Ser1517Trpfs) http://identifiers.org/clinvar/286246 ^@ NM_001029883.2(C2orf71):c.2889C>T (p.Ser963=) http://identifiers.org/clinvar/286247 ^@ NM_005957.4(MTHFR):c.1408_1409delGAinsCT (p.Glu470Leu) http://identifiers.org/clinvar/286248 ^@ NM_000543.4(SMPD1):c.807C>T (p.Ala269=) http://identifiers.org/clinvar/286249 ^@ NM_000280.4(PAX6):c.482delG (p.Gly161Valfs) http://identifiers.org/clinvar/286250 ^@ NM_000152.4(GAA):c.685C>T (p.Arg229Cys) http://identifiers.org/clinvar/286251 ^@ NM_033071.3(SYNE1):c.20076A>G (p.Ser6692=) http://identifiers.org/clinvar/286252 ^@ NM_001848.2(COL6A1):c.788G>A (p.Gly263Asp) http://identifiers.org/clinvar/286253 ^@ NM_058246.3(DNAJB6):c.547A>G (p.Ser183Gly) http://identifiers.org/clinvar/286254 ^@ NM_001267550.2(TTN):c.105852C>G (p.Ala35284=) http://identifiers.org/clinvar/286255 ^@ NM_000445.4(PLEC):c.471C>T (p.Pro157=) http://identifiers.org/clinvar/286256 ^@ NM_033071.3(SYNE1):c.5013A>G (p.Leu1671=) http://identifiers.org/clinvar/286257 ^@ NM_012210.3(TRIM32):c.1579G>A (p.Val527Ile) http://identifiers.org/clinvar/286258 ^@ NM_005572.3(LMNA):c.1657G>A (p.Asp553Asn) http://identifiers.org/clinvar/286259 ^@ NM_001267550.2(TTN):c.101117_101140del24 (p.Val33706_Pro33713del) http://identifiers.org/clinvar/286260 ^@ NM_000232.4(SGCB):c.380T>C (p.Val127Ala) http://identifiers.org/clinvar/286261 ^@ NM_003673.3(TCAP):c.103G>T (p.Glu35Ter) http://identifiers.org/clinvar/286262 ^@ NM_013382.5(POMT2):c.1396C>A (p.Arg466=) http://identifiers.org/clinvar/286263 ^@ NM_033071.3(SYNE1):c.8766G>A (p.Gly2922=) http://identifiers.org/clinvar/286264 ^@ NM_000117.2(EMD):c.549T>C (p.Pro183=) http://identifiers.org/clinvar/286265 ^@ NM_058246.3(DNAJB6):c.602G>A (p.Arg201Lys) http://identifiers.org/clinvar/286266 ^@ NM_001243766.1(POMGNT1):c.1825C>T (p.Arg609Trp) http://identifiers.org/clinvar/286267 ^@ NM_001848.2(COL6A1):c.782_789delTCCGGGGC (p.Leu261Argfs) http://identifiers.org/clinvar/286268 ^@ NM_000152.4(GAA):c.1356C>T (p.Ala452=) http://identifiers.org/clinvar/286269 ^@ NM_201380.3(PLEC):c.4803C>T (p.Thr1601=) http://identifiers.org/clinvar/286270 ^@ NM_033071.3(SYNE1):c.22789C>G (p.Leu7597Val) http://identifiers.org/clinvar/286271 ^@ NM_170707.3(LMNA):c.-1C>A http://identifiers.org/clinvar/286272 ^@ NM_001849.3(COL6A2):c.1095G>A (p.Glu365=) http://identifiers.org/clinvar/286273 ^@ NM_001849.3(COL6A2):c.1550A>C (p.Tyr517Ser) http://identifiers.org/clinvar/286274 ^@ NM_000231.2(SGCG):c.385G>A (p.Gly129Ser) http://identifiers.org/clinvar/286275 ^@ NM_001844.4(COL2A1):c.3311G>A (p.Gly1104Glu) http://identifiers.org/clinvar/286276 ^@ NM_005045.3(RELN):c.9837C>G (p.Thr3279=) http://identifiers.org/clinvar/286277 ^@ NM_001127221.1(CACNA1A):c.1170T>A (p.Asn390Lys) http://identifiers.org/clinvar/286278 ^@ NM_032119.3(ADGRV1):c.3938A>G (p.His1313Arg) http://identifiers.org/clinvar/286279 ^@ NM_001127221.1(CACNA1A):c.1233G>A (p.Gly411=) http://identifiers.org/clinvar/286280 ^@ NM_006922.3(SCN3A):c.1423A>C (p.Ile475Leu) http://identifiers.org/clinvar/286281 ^@ NM_003482.3(KMT2D):c.4389C>T (p.Thr1463=) http://identifiers.org/clinvar/286282 ^@ NM_006261.4(PROP1):c.423C>T (p.Ala141=) http://identifiers.org/clinvar/286283 ^@ NM_006261.4(PROP1):c.471C>T (p.Tyr157=) http://identifiers.org/clinvar/286284 ^@ NM_004560.3(ROR2):c.1885G>A (p.Val629Met) http://identifiers.org/clinvar/286285 ^@ NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) http://identifiers.org/clinvar/286286 ^@ NM_000208.3(INSR):c.151G>A (p.Glu51Lys) http://identifiers.org/clinvar/286287 ^@ NM_000057.3(BLM):c.1992C>T (p.Gly664=) http://identifiers.org/clinvar/286288 ^@ NM_000875.4(IGF1R):c.1485C>T (p.Phe495=) http://identifiers.org/clinvar/286289 ^@ NM_005633.3(SOS1):c.890C>T (p.Ser297Leu) http://identifiers.org/clinvar/286290 ^@ NM_005634.2(SOX3):c.398G>T (p.Gly133Val) http://identifiers.org/clinvar/286291 ^@ NM_025074.6(FRAS1):c.9450G>T (p.Val3150=) http://identifiers.org/clinvar/286292 ^@ NM_001190839.2(MGP):c.232A>G (p.Lys78Glu) http://identifiers.org/clinvar/286293 ^@ NM_004560.3(ROR2):c.2240G>A (p.Arg747Gln) http://identifiers.org/clinvar/286294 ^@ NM_198525.2(KIF7):c.2585G>A (p.Arg862His) http://identifiers.org/clinvar/286295 ^@ NM_004560.3(ROR2):c.51C>A (p.Ala17=) http://identifiers.org/clinvar/286296 ^@ NM_015404.3(WHRN):c.2101G>C (p.Gly701Arg) http://identifiers.org/clinvar/286297 ^@ NM_000046.3(ARSB):c.185T>A (p.Phe62Tyr) http://identifiers.org/clinvar/286298 ^@ NM_198080.3(MSRB3):c.98-18164G>T http://identifiers.org/clinvar/286299 ^@ NM_005219.4(DIAPH1):c.1784T>C (p.Ile595Thr) http://identifiers.org/clinvar/286300 ^@ NM_016239.3(MYO15A):c.7838C>A (p.Ala2613Asp) http://identifiers.org/clinvar/286301 ^@ NM_001199799.1(ILDR1):c.227C>T (p.Ala76Val) http://identifiers.org/clinvar/286302 ^@ NM_001128228.2(TPRN):c.1468G>A (p.Val490Met) http://identifiers.org/clinvar/286303 ^@ NM_002906.3(RDX):c.777A>G (p.Pro259=) http://identifiers.org/clinvar/286304 ^@ NM_206933.2(USH2A):c.7541A>G (p.Asn2514Ser) http://identifiers.org/clinvar/286305 ^@ NM_012463.3(ATP6V0A2):c.652G>A (p.Glu218Lys) http://identifiers.org/clinvar/286306 ^@ NM_014244.4(ADAMTS2):c.640C>T (p.Arg214Trp) http://identifiers.org/clinvar/286307 ^@ NM_024408.3(NOTCH2):c.2474A>G (p.Tyr825Cys) http://identifiers.org/clinvar/286308 ^@ NM_000235.3(LIPA):c.1046A>G (p.Asp349Gly) http://identifiers.org/clinvar/286309 ^@ NM_001127701.1(SERPINA1):c.976G>A (p.Val326Ile) http://identifiers.org/clinvar/286310 ^@ NM_003742.2(ABCB11):c.854T>C (p.Ile285Thr) http://identifiers.org/clinvar/286311 ^@ NM_003742.2(ABCB11):c.869C>G (p.Thr290Arg) http://identifiers.org/clinvar/286312 ^@ NM_000303.2(PMM2):c.339G>A (p.Pro113=) http://identifiers.org/clinvar/286313 ^@ NM_201382.3(PLEC):c.2178+9C>T http://identifiers.org/clinvar/286314 ^@ NM_139343.2(BIN1):c.1371+1G>T http://identifiers.org/clinvar/286315 ^@ NM_033071.3(SYNE1):c.2448G>A (p.Glu816=) http://identifiers.org/clinvar/286316 ^@ NM_002180.2(IGHMBP2):c.2818G>A (p.Ala940Thr) http://identifiers.org/clinvar/286317 ^@ NM_000152.4(GAA):c.2332-10C>G http://identifiers.org/clinvar/286318 ^@ NM_201383.2(PLEC):c.1054-4A>G http://identifiers.org/clinvar/286319 ^@ NM_173660.4(DOK7):c.1321G>A (p.Gly441Arg) http://identifiers.org/clinvar/286320 ^@ NM_000322.4(PRPH2):c.791C>G (p.Ser264Cys) http://identifiers.org/clinvar/286321 ^@ NM_015102.4(NPHP4):c.1430C>T (p.Thr477Met) http://identifiers.org/clinvar/286322 ^@ NM_022436.2(ABCG5):c.43C>G (p.Leu15Val) http://identifiers.org/clinvar/286323 ^@ NM_000784.3(CYP27A1):c.609G>A (p.Ser203=) http://identifiers.org/clinvar/286324 ^@ NM_014780.4(CUL7):c.1047C>T (p.Pro349=) http://identifiers.org/clinvar/286325 ^@ NM_004560.3(ROR2):c.2155G>A (p.Ala719Thr) http://identifiers.org/clinvar/286326 ^@ NM_006662.2(SRCAP):c.5420C>T (p.Ala1807Val) http://identifiers.org/clinvar/286327 ^@ NM_000061.2(BTK):c.615G>T (p.Glu205Asp) http://identifiers.org/clinvar/286328 ^@ NM_024529.4(CDC73):c.-4dupG http://identifiers.org/clinvar/286329 ^@ NM_000535.6(PMS2):c.706-6_706-4delTTT http://identifiers.org/clinvar/286330 ^@ NM_002412.4(MGMT):c.120C>T (p.Arg40=) http://identifiers.org/clinvar/286331 ^@ NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) http://identifiers.org/clinvar/286332 ^@ NM_015384.4(NIPBL):c.2081A>G (p.Glu694Gly) http://identifiers.org/clinvar/286333 ^@ NM_001558.3(IL10RA):c.931T>C (p.Leu311=) http://identifiers.org/clinvar/286334 ^@ NM_014639.3(TTC37):c.2578-10T>C http://identifiers.org/clinvar/286335 ^@ NM_006949.3(STXBP2):c.358C>T (p.Arg120Cys) http://identifiers.org/clinvar/286336 ^@ NM_003742.2(ABCB11):c.3945delC (p.Thr1316Leufs) http://identifiers.org/clinvar/286337 ^@ NM_005603.4(ATP8B1):c.3739C>T (p.Arg1247Cys) http://identifiers.org/clinvar/286338 ^@ NM_015102.4(NPHP4):c.2959G>A (p.Val987Ile) http://identifiers.org/clinvar/286339 ^@ NM_002206.2(ITGA7):c.3150G>T (p.Leu1050=) http://identifiers.org/clinvar/286340 ^@ NM_182914.2(SYNE2):c.17778T>G (p.Asn5926Lys) http://identifiers.org/clinvar/286341 ^@ NM_001458.4(FLNC):c.3006G>A (p.Arg1002=) http://identifiers.org/clinvar/286342 ^@ NM_012254.2(SLC27A5):c.149T>C (p.Met50Thr) http://identifiers.org/clinvar/286343 ^@ NM_012254.2(SLC27A5):c.157C>T (p.Arg53Trp) http://identifiers.org/clinvar/286344 ^@ NM_000159.3(GCDH):c.957-5T>C http://identifiers.org/clinvar/286345 ^@ NM_001271208.1(NEB):c.8328C>T (p.Ala2776=) http://identifiers.org/clinvar/286346 ^@ NM_003477.2(PDHX):c.-4C>G http://identifiers.org/clinvar/286347 ^@ NM_003477.2(PDHX):c.67C>T (p.Arg23Cys) http://identifiers.org/clinvar/286348 ^@ NM_003477.2(PDHX):c.108T>C (p.Ser36=) http://identifiers.org/clinvar/286349 ^@ NM_000088.3(COL1A1):c.1821C>T (p.Val607=) http://identifiers.org/clinvar/286350 ^@ NM_002181.3(IHH):c.228_229delGCinsAA (p.Arg77Ser) http://identifiers.org/clinvar/286351 ^@ NM_001193315.1(VIPAS39):c.972C>T (p.Arg324=) http://identifiers.org/clinvar/286352 ^@ NM_018006.4(TRMU):c.772+8G>A http://identifiers.org/clinvar/286353 ^@ NM_000466.2(PEX1):c.2584-10dupT http://identifiers.org/clinvar/286354 ^@ NM_000287.3(PEX6):c.2619T>C (p.Asn873=) http://identifiers.org/clinvar/286355 ^@ NM_005603.4(ATP8B1):c.3725C>G (p.Thr1242Ser) http://identifiers.org/clinvar/286356 ^@ NM_138694.3(PKHD1):c.4130A>C (p.Asn1377Thr) http://identifiers.org/clinvar/286357 ^@ NM_000487.5(ARSA):c.854+5G>T http://identifiers.org/clinvar/286358 ^@ NM_003630.2(PEX3):c.1008T>C (p.Val336=) http://identifiers.org/clinvar/286359 ^@ NM_003630.2(PEX3):c.856C>A (p.Arg286=) http://identifiers.org/clinvar/286360 ^@ NM_000222.2(KIT):c.2448C>T (p.Asp816=) http://identifiers.org/clinvar/286361 ^@ NM_025074.6(FRAS1):c.217-3C>T http://identifiers.org/clinvar/286362 ^@ NM_139319.2(SLC17A8):c.1690G>C (p.Gly564Arg) http://identifiers.org/clinvar/286363 ^@ NM_002968.2(SALL1):c.1903C>T (p.Pro635Ser) http://identifiers.org/clinvar/286364 ^@ NM_000060.4(BTD):c.1062G>A (p.Thr354=) http://identifiers.org/clinvar/286365 ^@ NM_206933.2(USH2A):c.9958+8G>T http://identifiers.org/clinvar/286366 ^@ NM_206933.2(USH2A):c.14760C>T (p.Ser4920=) http://identifiers.org/clinvar/286367 ^@ NM_001130823.2(DNMT1):c.1287C>T (p.Tyr429=) http://identifiers.org/clinvar/286368 ^@ NM_022124.5(CDH23):c.2890C>T (p.Arg964Trp) http://identifiers.org/clinvar/286369 ^@ NM_002335.3(LRP5):c.4359C>T (p.Cys1453=) http://identifiers.org/clinvar/286370 ^@ NM_002900.2(RBP3):c.1581G>A (p.Pro527=) http://identifiers.org/clinvar/286371 ^@ NM_000883.3(IMPDH1):c.1778+1G>A http://identifiers.org/clinvar/286372 ^@ NM_003835.3(RGS9):c.495G>A (p.Gln165=) http://identifiers.org/clinvar/286373 ^@ NM_003835.3(RGS9):c.69C>T (p.Leu23=) http://identifiers.org/clinvar/286374 ^@ NM_000168.5(GLI3):c.223C>G (p.Pro75Ala) http://identifiers.org/clinvar/286375 ^@ NM_004836.6(EIF2AK3):c.556T>C (p.Tyr186His) http://identifiers.org/clinvar/286376 ^@ NM_001457.3(FLNB):c.6367+7G>C http://identifiers.org/clinvar/286377 ^@ NM_003193.4(TBCE):c.214C>T (p.Pro72Ser) http://identifiers.org/clinvar/286378 ^@ NM_001271208.1(NEB):c.19966C>T (p.Arg6656Cys) http://identifiers.org/clinvar/286379 ^@ NM_001267550.2(TTN):c.68635G>A (p.Glu22879Lys) http://identifiers.org/clinvar/286380 ^@ NM_000751.2(CHRND):c.1220G>A (p.Arg407Gln) http://identifiers.org/clinvar/286381 ^@ NM_000751.2(CHRND):c.1066C>T (p.Pro356Ser) http://identifiers.org/clinvar/286382 ^@ NM_001267550.2(TTN):c.24648A>G (p.Arg8216=) http://identifiers.org/clinvar/286383 ^@ NM_001039523.2(CHRNA1):c.204G>A (p.Gln68=) http://identifiers.org/clinvar/286384 ^@ NM_024757.4(EHMT1):c.1947G>A (p.Ser649=) http://identifiers.org/clinvar/286385 ^@ NM_020920.3(CHD8):c.5171C>G (p.Ala1724Gly) http://identifiers.org/clinvar/286386 ^@ NM_207361.5(FREM2):c.38G>A (p.Arg13Gln) http://identifiers.org/clinvar/286387 ^@ NM_000540.2(RYR1):c.13565C>T (p.Pro4522Leu) http://identifiers.org/clinvar/286388 ^@ NM_000426.3(LAMA2):c.1610_1611delTA (p.Ile537Thrfs) http://identifiers.org/clinvar/286389 ^@ NM_002609.3(PDGFRB):c.2523G>A (p.Lys841=) http://identifiers.org/clinvar/286390 ^@ NM_032409.2(PINK1):c.1426G>A (p.Glu476Lys) http://identifiers.org/clinvar/286391 ^@ NM_000320.2(QDPR):c.96C>T (p.Ala32=) http://identifiers.org/clinvar/286392 ^@ NM_001256047.1(C19orf12):c.313G>A (p.Val105Met) http://identifiers.org/clinvar/286393 ^@ NM_006749.4(SLC20A2):c.58T>C (p.Leu20=) http://identifiers.org/clinvar/286394 ^@ NM_024570.3(RNASEH2B):c.787A>G (p.Thr263Ala) http://identifiers.org/clinvar/286395 ^@ NM_001110556.1(FLNA):c.2405-2A>G http://identifiers.org/clinvar/286396 ^@ NM_004006.2(DMD):c.10453delC (p.Leu3485Terfs) http://identifiers.org/clinvar/286398 ^@ NM_004006.2(DMD):c.1530dupC (p.Thr511Hisfs) http://identifiers.org/clinvar/286399 ^@ NM_032856.3(WDR73):c.1132delC (p.Arg378Alafs) http://identifiers.org/clinvar/286400 ^@ NM_012463.3(ATP6V0A2):c.78dupC (p.Ser27Glnfs) http://identifiers.org/clinvar/286401 ^@ NM_013328.3(PYCR2):c.758_759insCT (p.Leu254Cysfs) http://identifiers.org/clinvar/286402 ^@ NM_003235.4(TG):c.6379C>T (p.Arg2127Ter) http://identifiers.org/clinvar/286403 ^@ NM_181523.2(PIK3R1):c.25A>G (p.Arg9Gly) http://identifiers.org/clinvar/286404 ^@ NM_000493.3(COL10A1):c.308C>G (p.Ser103Ter) http://identifiers.org/clinvar/286405 ^@ NM_001001557.3(GDF6):c.725C>G (p.Ala242Gly) http://identifiers.org/clinvar/286406 ^@ NM_000492.3(CFTR):c.1270G>A (p.Gly424Ser) http://identifiers.org/clinvar/286407 ^@ NM_020247.4(COQ8A):c.1742dupA (p.Ser582Glufs) http://identifiers.org/clinvar/286408 ^@ NM_001171.5(ABCC6):c.2814C>A (p.Tyr938Ter) http://identifiers.org/clinvar/286409 ^@ NM_015560.2(OPA1):c.2124_2141del18 (p.Ser708_Trp714delinsArg) http://identifiers.org/clinvar/286410 ^@ NM_033071.3(SYNE1):c.23959_23960delCTinsGA (p.Leu7987Glu) http://identifiers.org/clinvar/286411 ^@ NM_000232.4(SGCB):c.-12G>A http://identifiers.org/clinvar/286412 ^@ NM_015295.2(SMCHD1):c.1768_1769delTCinsAA (p.Ser590Asn) http://identifiers.org/clinvar/286413 ^@ NM_000208.3(INSR):c.3165G>A (p.Ala1055=) http://identifiers.org/clinvar/286414 ^@ NM_001077482.2(NR1I3):c.226A>G (p.Met76Val) http://identifiers.org/clinvar/286415 ^@ NM_016724.2(FOLR1):c.314G>T (p.Cys105Phe) http://identifiers.org/clinvar/286416 ^@ NM_001360.2(DHCR7):c.375C>T (p.Tyr125=) http://identifiers.org/clinvar/286417 ^@ NM_024757.4(EHMT1):c.1135A>G (p.Lys379Glu) http://identifiers.org/clinvar/286418 ^@ NM_002024.5(FMR1):c.375T>C (p.Thr125=) http://identifiers.org/clinvar/286419 ^@ NM_002025.3(AFF2):c.64C>T (p.Arg22Cys) http://identifiers.org/clinvar/286420 ^@ NM_004006.2(DMD):c.3841T>C (p.Trp1281Arg) http://identifiers.org/clinvar/286421 ^@ NM_020366.3(RPGRIP1):c.3647T>C (p.Leu1216Pro) http://identifiers.org/clinvar/286422 ^@ NM_001004334.3(GPR179):c.647dupA (p.Ala217Glyfs) http://identifiers.org/clinvar/286423 ^@ NM_025074.6(FRAS1):c.3010+9G>A http://identifiers.org/clinvar/286424 ^@ NM_144966.5(FREM1):c.3471+9C>T http://identifiers.org/clinvar/286425 ^@ NM_001039141.2(TRIOBP):c.3854_3855delGA (p.Arg1285Thrfs) http://identifiers.org/clinvar/286426 ^@ NM_024408.3(NOTCH2):c.3205C>A (p.Arg1069=) http://identifiers.org/clinvar/286427 ^@ NM_000392.4(ABCC2):c.159A>G (p.Lys53=) http://identifiers.org/clinvar/286428 ^@ NM_002857.3(PEX19):c.490G>A (p.Glu164Lys) http://identifiers.org/clinvar/286429 ^@ NM_000458.3(HNF1B):c.300C>T (p.Thr100=) http://identifiers.org/clinvar/286430 ^@ NM_024408.3(NOTCH2):c.5977A>G (p.Thr1993Ala) http://identifiers.org/clinvar/286431 ^@ NM_022437.2(ABCG8):c.1093A>G (p.Thr365Ala) http://identifiers.org/clinvar/286432 ^@ NM_001281463.1(SMC1A):c.1213G>A (p.Glu405Lys) http://identifiers.org/clinvar/286433 ^@ NM_000155.3(GALT):c.752_753delACinsCT (p.Tyr251Ser) http://identifiers.org/clinvar/286434 ^@ NM_001130987.1(DYSF):c.6065G>A (p.Gly2022Asp) http://identifiers.org/clinvar/286435 ^@ NM_000152.4(GAA):c.2155G>T (p.Ala719Ser) http://identifiers.org/clinvar/286436 ^@ NM_000023.3(SGCA):c.747+1G>A http://identifiers.org/clinvar/286437 ^@ NM_170707.3(LMNA):c.693T>G (p.Asn231Lys) http://identifiers.org/clinvar/286438 ^@ NM_001849.3(COL6A2):c.2968C>G (p.Leu990Val) http://identifiers.org/clinvar/286439 ^@ NM_001128227.2(GNE):c.1937C>G (p.Ser646Ter) http://identifiers.org/clinvar/286440 ^@ NM_001165928.3(DAG1):c.1695C>T (p.Pro565=) http://identifiers.org/clinvar/286441 ^@ NM_033071.3(SYNE1):c.10787C>T (p.Thr3596Ile) http://identifiers.org/clinvar/286442 ^@ NM_004006.2(DMD):c.-188C>T http://identifiers.org/clinvar/286443 ^@ NM_001130987.1(DYSF):c.4148C>T (p.Thr1383Met) http://identifiers.org/clinvar/286444 ^@ NM_004369.3(COL6A3):c.4252_4254delAAG (p.Lys1418del) http://identifiers.org/clinvar/286445 ^@ NM_058246.3(DNAJB6):c.571A>G (p.Ile191Val) http://identifiers.org/clinvar/286446 ^@ NM_005572.3(LMNA):c.75C>T (p.Arg25=) http://identifiers.org/clinvar/286447 ^@ NM_001849.3(COL6A2):c.189G>A (p.Thr63=) http://identifiers.org/clinvar/286448 ^@ NM_004006.2(DMD):c.2183T>C (p.Ile728Thr) http://identifiers.org/clinvar/286449 ^@ NM_001267550.2(TTN):c.43748-7C>T http://identifiers.org/clinvar/286450 ^@ NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) http://identifiers.org/clinvar/286451 ^@ NM_001849.3(COL6A2):c.1117-3C>T http://identifiers.org/clinvar/286452 ^@ NM_000117.2(EMD):c.610C>G (p.Arg204Gly) http://identifiers.org/clinvar/286453 ^@ NM_004006.2(DMD):c.-302G>A http://identifiers.org/clinvar/286454 ^@ NM_001130987.1(DYSF):c.432G>T (p.Pro144=) http://identifiers.org/clinvar/286455 ^@ NM_182961.3(SYNE1):c.7227A>G (p.Lys2409=) http://identifiers.org/clinvar/286456 ^@ NM_033071.3(SYNE1):c.14210C>T (p.Thr4737Met) http://identifiers.org/clinvar/286457 ^@ NM_001130987.1(DYSF):c.5478C>T (p.Val1826=) http://identifiers.org/clinvar/286458 ^@ NM_000152.4(GAA):c.1754+1G>A http://identifiers.org/clinvar/286459 ^@ NM_004369.3(COL6A3):c.2367T>A (p.Ile789=) http://identifiers.org/clinvar/286460 ^@ NM_058246.3(DNAJB6):c.860G>A (p.Arg287Gln) http://identifiers.org/clinvar/286461 ^@ NM_024301.4(FKRP):c.892G>C (p.Gly298Arg) http://identifiers.org/clinvar/286462 ^@ NM_004369.3(COL6A3):c.575C>T (p.Pro192Leu) http://identifiers.org/clinvar/286463 ^@ NM_015295.2(SMCHD1):c.3340G>A (p.Val1114Ile) http://identifiers.org/clinvar/286464 ^@ NM_033071.3(SYNE1):c.4910C>T (p.Ala1637Val) http://identifiers.org/clinvar/286465 ^@ NM_004369.3(COL6A3):c.5635G>A (p.Gly1879Ser) http://identifiers.org/clinvar/286466 ^@ NM_001128227.2(GNE):c.116G>A (p.Arg39Gln) http://identifiers.org/clinvar/286467 ^@ NM_213599.2(ANO5):c.139-1delG http://identifiers.org/clinvar/286468 ^@ NM_003494.3(DYSF):c.1890G>T (p.Pro630=) http://identifiers.org/clinvar/286469 ^@ NM_000152.4(GAA):c.1841C>T (p.Thr614Met) http://identifiers.org/clinvar/286470 ^@ NM_033071.3(SYNE1):c.10730G>C (p.Arg3577Pro) http://identifiers.org/clinvar/286471 ^@ NM_001079802.1(FKTN):c.383G>A (p.Arg128Gln) http://identifiers.org/clinvar/286472 ^@ NM_012470.3(TNPO3):c.1810A>G (p.Ile604Val) http://identifiers.org/clinvar/286473 ^@ NM_001848.2(COL6A1):c.2413G>A (p.Val805Ile) http://identifiers.org/clinvar/286474 ^@ NM_213599.2(ANO5):c.2235+4A>C http://identifiers.org/clinvar/286475 ^@ NM_000152.4(GAA):c.1930G>C (p.Ala644Pro) http://identifiers.org/clinvar/286476 ^@ NM_182961.3(SYNE1):c.310-459A>G http://identifiers.org/clinvar/286477 ^@ NM_000070.2(CAPN3):c.1477C>G (p.Arg493Gly) http://identifiers.org/clinvar/286478 ^@ NM_001267550.2(TTN):c.13419T>C (p.Leu4473=) http://identifiers.org/clinvar/286479 ^@ NM_004369.3(COL6A3):c.3198C>T (p.Arg1066=) http://identifiers.org/clinvar/286480 ^@ NM_004369.3(COL6A3):c.8891C>T (p.Ala2964Val) http://identifiers.org/clinvar/286481 ^@ NM_000152.4(GAA):c.317G>A (p.Arg106His) http://identifiers.org/clinvar/286482 ^@ NM_033071.3(SYNE1):c.19929C>T (p.Ser6643=) http://identifiers.org/clinvar/286483 ^@ NM_001849.3(COL6A2):c.1962C>T (p.Ser654=) http://identifiers.org/clinvar/286484 ^@ NM_001449.4(FHL1):c.486C>G (p.Cys162Trp) http://identifiers.org/clinvar/286485 ^@ NM_033071.3(SYNE1):c.12585T>A (p.Ser4195=) http://identifiers.org/clinvar/286486 ^@ NM_001267550.2(TTN):c.18468C>T (p.Phe6156=) http://identifiers.org/clinvar/286487 ^@ NM_001267550.2(TTN):c.16159A>C (p.Arg5387=) http://identifiers.org/clinvar/286488 ^@ NM_012470.3(TNPO3):c.943G>C (p.Gly315Arg) http://identifiers.org/clinvar/286489 ^@ NM_001128227.2(GNE):c.803T>C (p.Leu268Ser) http://identifiers.org/clinvar/286490 ^@ NM_004369.3(COL6A3):c.1762G>A (p.Asp588Asn) http://identifiers.org/clinvar/286491 ^@ NM_033071.3(SYNE1):c.2914-5G>A http://identifiers.org/clinvar/286492 ^@ NM_001243766.1(POMGNT1):c.396T>C (p.His132=) http://identifiers.org/clinvar/286493 ^@ NM_001128227.2(GNE):c.804G>C (p.Leu268Phe) http://identifiers.org/clinvar/286494 ^@ NM_001159702.2(FHL1):c.408C>T (p.Ile136=) http://identifiers.org/clinvar/286495 ^@ NM_024747.5(HPS6):c.105T>C (p.Arg35=) http://identifiers.org/clinvar/286496 ^@ NM_001099922.2(ALG13):c.1064A>G (p.Gln355Arg) http://identifiers.org/clinvar/286497 ^@ NM_001844.4(COL2A1):c.2353C>T (p.Arg785Ter) http://identifiers.org/clinvar/286498 ^@ NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) http://identifiers.org/clinvar/286499 ^@ NM_002222.5(ITPR1):c.3135C>T (p.Thr1045=) http://identifiers.org/clinvar/286500 ^@ NM_000719.6(CACNA1C):c.2391G>A (p.Gly797=) http://identifiers.org/clinvar/286501 ^@ NM_016569.3(TBX3):c.610_611insCCAAAGTCGTCACTT (p.Thr203_Phe204insSerLysValValThr) http://identifiers.org/clinvar/286502 ^@ NM_001130823.2(DNMT1):c.2676C>T (p.Phe892=) http://identifiers.org/clinvar/286503 ^@ NM_020436.4(SALL4):c.2057_2059delATG (p.Asp686del) http://identifiers.org/clinvar/286504 ^@ NM_080680.2(COL11A2):c.4675C>T (p.Arg1559Trp) http://identifiers.org/clinvar/286505 ^@ NM_001039141.2(TRIOBP):c.3774C>T (p.Pro1258=) http://identifiers.org/clinvar/286506 ^@ NM_001453.2(FOXC1):c.597C>G (p.Arg199=) http://identifiers.org/clinvar/286507 ^@ NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) http://identifiers.org/clinvar/286508 ^@ NM_005422.2(TECTA):c.4879G>A (p.Gly1627Arg) http://identifiers.org/clinvar/286509 ^@ NM_000260.3(MYO7A):c.5033G>A (p.Arg1678Gln) http://identifiers.org/clinvar/286510 ^@ NM_017780.3(CHD7):c.7165-5A>G http://identifiers.org/clinvar/286511 ^@ NM_206933.2(USH2A):c.9604C>G (p.Pro3202Ala) http://identifiers.org/clinvar/286512 ^@ NM_001145809.1(MYH14):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/286513 ^@ NM_005422.2(TECTA):c.336T>C (p.Tyr112=) http://identifiers.org/clinvar/286514 ^@ NM_004727.2(SLC24A1):c.2764T>C (p.Trp922Arg) http://identifiers.org/clinvar/286515 ^@ NM_001193301.1(SEMA4A):c.2044C>T (p.Pro682Ser) http://identifiers.org/clinvar/286516 ^@ NM_001077182.2(FSCN2):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/286517 ^@ NM_006445.3(PRPF8):c.5506T>C (p.Leu1836=) http://identifiers.org/clinvar/286518 ^@ NM_002977.3(SCN9A):c.2733C>T (p.Arg911=) http://identifiers.org/clinvar/286519 ^@ NM_000052.6(ATP7A):c.1306G>A (p.Glu436Lys) http://identifiers.org/clinvar/286520 ^@ NM_213655.4(WNK1):c.3966T>C (p.Ser1322=) http://identifiers.org/clinvar/286521 ^@ NM_014363.5(SACS):c.10274A>G (p.Lys3425Arg) http://identifiers.org/clinvar/286522 ^@ NM_001376.4(DYNC1H1):c.9264-8T>G http://identifiers.org/clinvar/286523 ^@ NM_003001.3(SDHC):c.*123C>G http://identifiers.org/clinvar/286524 ^@ NM_032551.4(KISS1R):c.24A>G (p.Gly8=) http://identifiers.org/clinvar/286525 ^@ NM_001080413.3(NOBOX):c.1549T>C (p.Phe517Leu) http://identifiers.org/clinvar/286526 ^@ NM_004817.3(TJP2):c.410A>T (p.Asp137Val) http://identifiers.org/clinvar/286527 ^@ NM_003482.3(KMT2D):c.5104C>T (p.Arg1702Ter) http://identifiers.org/clinvar/286528 ^@ NM_032856.3(WDR73):c.1132dupC (p.Arg378Profs) http://identifiers.org/clinvar/286529 ^@ NM_001077197.1(PDE11A):c.1558C>T (p.Gln520Ter) http://identifiers.org/clinvar/286530 ^@ NM_032382.4(COG8):c.1006C>T (p.Arg336Trp) http://identifiers.org/clinvar/286531 ^@ NM_001242957.2(MAK):c.170_171delTT (p.Leu57Glnfs) http://identifiers.org/clinvar/286532 ^@ NM_001184896.1(PHF8):c.62A>G (p.Asp21Gly) http://identifiers.org/clinvar/286533 ^@ NM_003060.3(SLC22A5):c.1621A>T (p.Met541Leu) http://identifiers.org/clinvar/286534 ^@ NM_000204.4(CFI):c.80_81delAT (p.Asp27Alafs) http://identifiers.org/clinvar/286535 ^@ NM_004560.3(ROR2):c.380C>T (p.Thr127Met) http://identifiers.org/clinvar/286536 ^@ NM_001044385.2(TMEM237):c.439G>A (p.Val147Ile) http://identifiers.org/clinvar/286537 ^@ NM_001037633.1(SIL1):c.1351G>A (p.Gly451Ser) http://identifiers.org/clinvar/286538 ^@ NM_000153.3(GALC):c.243_244insAG (p.Ile82Argfs) http://identifiers.org/clinvar/286539 ^@ NM_015102.4(NPHP4):c.3757C>T (p.Arg1253Trp) http://identifiers.org/clinvar/286540 ^@ NM_000319.4(PEX5):c.1525G>A (p.Val509Ile) http://identifiers.org/clinvar/286541 ^@ NM_001165927.1(MKS1):c.439G>A (p.Glu147Lys) http://identifiers.org/clinvar/286542 ^@ NM_080680.2(COL11A2):c.3352C>A (p.Gln1118Lys) http://identifiers.org/clinvar/286543 ^@ NM_000326.4(RLBP1):c.817C>T (p.Leu273Phe) http://identifiers.org/clinvar/286544 ^@ NM_014989.5(RIMS1):c.1230C>G (p.Gly410=) http://identifiers.org/clinvar/286545 ^@ NM_001851.4(COL9A1):c.56C>T (p.Pro19Leu) http://identifiers.org/clinvar/286546 ^@ NM_024408.3(NOTCH2):c.4311C>T (p.Gly1437=) http://identifiers.org/clinvar/286547 ^@ NM_001267550.2(TTN):c.62046G>T (p.Lys20682Asn) http://identifiers.org/clinvar/286548 ^@ NM_003384.2(VRK1):c.882C>G (p.Asn294Lys) http://identifiers.org/clinvar/286549 ^@ NM_139343.2(BIN1):c.1060A>G (p.Lys354Glu) http://identifiers.org/clinvar/286550 ^@ NM_001127464.2(ZNF469):c.2814G>A (p.Ala938=) http://identifiers.org/clinvar/286551 ^@ NM_000402.4(G6PD):c.210+9C>T http://identifiers.org/clinvar/286552 ^@ NM_144966.5(FREM1):c.4466G>A (p.Arg1489Gln) http://identifiers.org/clinvar/286553 ^@ NM_000193.3(SHH):c.989C>T (p.Ala330Val) http://identifiers.org/clinvar/286554 ^@ NM_001199397.1(NEK1):c.3047A>G (p.His1016Arg) http://identifiers.org/clinvar/286555 ^@ NM_024408.3(NOTCH2):c.975A>G (p.Val325=) http://identifiers.org/clinvar/286556 ^@ NM_002335.3(LRP5):c.4195G>A (p.Val1399Ile) http://identifiers.org/clinvar/286557 ^@ NM_001014796.1(DDR2):c.1382C>T (p.Ser461Leu) http://identifiers.org/clinvar/286558 ^@ NM_006037.3(HDAC4):c.952C>T (p.Pro318Ser) http://identifiers.org/clinvar/286559 ^@ NM_002334.3(LRP4):c.1494C>T (p.Asn498=) http://identifiers.org/clinvar/286560 ^@ NM_147127.4(EVC2):c.2621G>A (p.Arg874Gln) http://identifiers.org/clinvar/286561 ^@ NM_198525.2(KIF7):c.2105G>A (p.Arg702Gln) http://identifiers.org/clinvar/286562 ^@ NM_014112.4(TRPS1):c.3328C>T (p.Leu1110Phe) http://identifiers.org/clinvar/286563 ^@ NM_147127.4(EVC2):c.1471-7T>C http://identifiers.org/clinvar/286564 ^@ NM_000053.3(ATP7B):c.3107dupT (p.Arg1038Glnfs) http://identifiers.org/clinvar/286565 ^@ NM_000458.3(HNF1B):c.1025C>T (p.Ser342Phe) http://identifiers.org/clinvar/286566 ^@ NM_153240.4(NPHP3):c.2571-3T>C http://identifiers.org/clinvar/286567 ^@ NM_003742.2(ABCB11):c.3350G>A (p.Cys1117Tyr) http://identifiers.org/clinvar/286568 ^@ NM_017777.3(MKS1):c.52C>A (p.Arg18=) http://identifiers.org/clinvar/286569 ^@ NM_000271.4(NPC1):c.834G>A (p.Ala278=) http://identifiers.org/clinvar/286570 ^@ NM_012254.2(SLC27A5):c.1612G>A (p.Ala538Thr) http://identifiers.org/clinvar/286571 ^@ NM_058246.3(DNAJB6):c.661G>A (p.Asp221Asn) http://identifiers.org/clinvar/286572 ^@ NM_033071.3(SYNE1):c.18556G>A (p.Glu6186Lys) http://identifiers.org/clinvar/286573 ^@ NM_001849.3(COL6A2):c.1043C>T (p.Pro348Leu) http://identifiers.org/clinvar/286574 ^@ NM_001079802.1(FKTN):c.*2280T>C http://identifiers.org/clinvar/286575 ^@ NM_182961.3(SYNE1):c.19554C>T (p.Pro6518=) http://identifiers.org/clinvar/286576 ^@ NM_003673.3(TCAP):c.118C>T (p.Leu40=) http://identifiers.org/clinvar/286577 ^@ NM_004006.2(DMD):c.6223C>T (p.Gln2075Ter) http://identifiers.org/clinvar/286578 ^@ NM_000152.4(GAA):c.2155G>A (p.Ala719Thr) http://identifiers.org/clinvar/286579 ^@ NM_001849.3(COL6A2):c.2326G>A (p.Ala776Thr) http://identifiers.org/clinvar/286580 ^@ NM_058246.3(DNAJB6):c.-8C>T http://identifiers.org/clinvar/286581 ^@ NM_000070.2(CAPN3):c.536A>G (p.Asp179Gly) http://identifiers.org/clinvar/286582 ^@ NM_001848.2(COL6A1):c.3056A>G (p.Gln1019Arg) http://identifiers.org/clinvar/286583 ^@ NM_201381.2(PLEC):c.3993C>T (p.Ala1331=) http://identifiers.org/clinvar/286584 ^@ NM_001848.2(COL6A1):c.1226C>A (p.Ala409Glu) http://identifiers.org/clinvar/286585 ^@ NM_004006.2(DMD):c.683T>A (p.Ile228Asn) http://identifiers.org/clinvar/286586 ^@ NM_033071.3(SYNE1):c.10170A>G (p.Gln3390=) http://identifiers.org/clinvar/286587 ^@ NM_004369.3(COL6A3):c.2145G>A (p.Ser715=) http://identifiers.org/clinvar/286588 ^@ NM_201382.3(PLEC):c.11355C>T (p.Ala3785=) http://identifiers.org/clinvar/286589 ^@ NM_033071.3(SYNE1):c.24990C>T (p.Gly8330=) http://identifiers.org/clinvar/286590 ^@ NM_001165928.3(DAG1):c.2326C>T (p.Arg776Cys) http://identifiers.org/clinvar/286591 ^@ NM_000070.2(CAPN3):c.402delC (p.Ile135Leufs) http://identifiers.org/clinvar/286592 ^@ NM_000070.2(CAPN3):c.1524G>A (p.Glu508=) http://identifiers.org/clinvar/286593 ^@ NM_033071.3(SYNE1):c.3678G>A (p.Thr1226=) http://identifiers.org/clinvar/286594 ^@ NM_000070.2(CAPN3):c.*134C>T http://identifiers.org/clinvar/286595 ^@ NM_033071.3(SYNE1):c.7496C>A (p.Ala2499Asp) http://identifiers.org/clinvar/286596 ^@ NM_033071.3(SYNE1):c.4689G>C (p.Lys1563Asn) http://identifiers.org/clinvar/286597 ^@ NM_006790.2(MYOT):c.563G>T (p.Arg188Ile) http://identifiers.org/clinvar/286598 ^@ NM_001848.2(COL6A1):c.1056+4A>G http://identifiers.org/clinvar/286599 ^@ NM_001256850.1(TTN):c.99717G>A (p.Glu33239=) http://identifiers.org/clinvar/286600 ^@ NM_000070.2(CAPN3):c.1524+3G>A http://identifiers.org/clinvar/286601 ^@ NM_000070.2(CAPN3):c.1516A>G (p.Ile506Val) http://identifiers.org/clinvar/286602 ^@ NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter) http://identifiers.org/clinvar/286603 ^@ NM_001130987.1(DYSF):c.3184C>T (p.Arg1062Cys) http://identifiers.org/clinvar/286604 ^@ NM_001128227.2(GNE):c.1339G>A (p.Gly447Arg) http://identifiers.org/clinvar/286605 ^@ NM_000152.4(GAA):c.1192C>T (p.Leu398=) http://identifiers.org/clinvar/286606 ^@ NM_001165928.3(DAG1):c.1370G>A (p.Arg457Gln) http://identifiers.org/clinvar/286607 ^@ NM_006486.2(FBLN1):c.1684C>T (p.Arg562Cys) http://identifiers.org/clinvar/286608 ^@ NM_020549.4(CHAT):c.85A>T (p.Arg29Ter) http://identifiers.org/clinvar/286609 ^@ NM_007129.3(ZIC2):c.1392_1406delTGCGGCGGCGGCGGC (p.Ala466_Ala470del) http://identifiers.org/clinvar/286610 ^@ NM_012186.2(FOXE3):c.898A>G (p.Ser300Gly) http://identifiers.org/clinvar/286611 ^@ NM_022124.5(CDH23):c.2990C>T (p.Pro997Leu) http://identifiers.org/clinvar/286612 ^@ NM_005477.2(HCN4):c.1356C>T (p.Ser452=) http://identifiers.org/clinvar/286613 ^@ NM_153026.2(PRICKLE1):c.920G>A (p.Ser307Asn) http://identifiers.org/clinvar/286614 ^@ NM_020361.4(CPA6):c.581G>A (p.Gly194Asp) http://identifiers.org/clinvar/286615 ^@ NM_000070.2(CAPN3):c.367C>A (p.Gln123Lys) http://identifiers.org/clinvar/286616 ^@ NM_015295.2(SMCHD1):c.1905C>T (p.Gly635=) http://identifiers.org/clinvar/286617 ^@ NM_001267550.2(TTN):c.73318A>G (p.Ile24440Val) http://identifiers.org/clinvar/286618 ^@ NM_024408.3(NOTCH2):c.3519C>T (p.Cys1173=) http://identifiers.org/clinvar/286619 ^@ NM_001159772.1(CANT1):c.1123A>T (p.Met375Leu) http://identifiers.org/clinvar/286620 ^@ NM_000396.3(CTSK):c.541T>C (p.Tyr181His) http://identifiers.org/clinvar/286621 ^@ NM_021939.3(FKBP10):c.21C>T (p.Pro7=) http://identifiers.org/clinvar/286622 ^@ NM_001457.3(FLNB):c.871G>A (p.Val291Met) http://identifiers.org/clinvar/286623 ^@ NM_006031.5(PCNT):c.3441C>T (p.Asp1147=) http://identifiers.org/clinvar/286624 ^@ NM_014140.3(SMARCAL1):c.2201A>G (p.His734Arg) http://identifiers.org/clinvar/286625 ^@ NM_153704.5(TMEM67):c.369C>T (p.Ala123=) http://identifiers.org/clinvar/286626 ^@ NM_000523.3(HOXD13):c.135C>T (p.Ser45=) http://identifiers.org/clinvar/286628 ^@ NM_000414.3(HSD17B4):c.1670A>T (p.Lys557Met) http://identifiers.org/clinvar/286629 ^@ NM_139319.2(SLC17A8):c.584T>C (p.Val195Ala) http://identifiers.org/clinvar/286630 ^@ NM_018344.5(SLC29A3):c.199C>T (p.Pro67Ser) http://identifiers.org/clinvar/286631 ^@ NM_144612.6(LOXHD1):c.4202C>T (p.Pro1401Leu) http://identifiers.org/clinvar/286632 ^@ NM_007123.5(USH2A):c.2459A>G (p.Asn820Ser) http://identifiers.org/clinvar/286633 ^@ NM_016239.3(MYO15A):c.4623G>A (p.Thr1541=) http://identifiers.org/clinvar/286634 ^@ NM_206933.2(USH2A):c.792G>A (p.Glu264=) http://identifiers.org/clinvar/286635 ^@ NM_144612.6(LOXHD1):c.894T>G (p.Tyr298Ter) http://identifiers.org/clinvar/286636 ^@ NM_002906.3(RDX):c.780C>T (p.Ile260=) http://identifiers.org/clinvar/286637 ^@ NM_001453.2(FOXC1):c.114C>T (p.Thr38=) http://identifiers.org/clinvar/286638 ^@ NM_005219.4(DIAPH1):c.1407T>C (p.Ile469=) http://identifiers.org/clinvar/286639 ^@ NM_024009.2(GJB3):c.670C>G (p.Arg224Gly) http://identifiers.org/clinvar/286640 ^@ NM_001879.5(MASP1):c.674A>G (p.Asn225Ser) http://identifiers.org/clinvar/286641 ^@ NM_001453.2(FOXC1):c.1050C>T (p.Leu350=) http://identifiers.org/clinvar/286642 ^@ NM_206933.2(USH2A):c.151A>G (p.Ile51Val) http://identifiers.org/clinvar/286643 ^@ NM_032119.3(ADGRV1):c.18144T>C (p.His6048=) http://identifiers.org/clinvar/286644 ^@ NM_002906.3(RDX):c.1251A>G (p.Leu417=) http://identifiers.org/clinvar/286645 ^@ NM_080680.2(COL11A2):c.2584-10C>T http://identifiers.org/clinvar/286646 ^@ NM_080680.2(COL11A2):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/286647 ^@ NM_000466.2(PEX1):c.1360-7C>T http://identifiers.org/clinvar/286648 ^@ NM_001193315.1(VIPAS39):c.272G>A (p.Arg91Gln) http://identifiers.org/clinvar/286649 ^@ NM_004273.4(CHST3):c.561G>C (p.Val187=) http://identifiers.org/clinvar/286650 ^@ NM_024408.3(NOTCH2):c.6094C>A (p.His2032Asn) http://identifiers.org/clinvar/286651 ^@ NM_138694.3(PKHD1):c.5134G>A (p.Gly1712Arg) http://identifiers.org/clinvar/286652 ^@ NM_000271.4(NPC1):c.3556C>T (p.Arg1186Cys) http://identifiers.org/clinvar/286653 ^@ NM_018668.4(VPS33B):c.1616delA (p.Glu539Glyfs) http://identifiers.org/clinvar/286654 ^@ NM_012254.2(SLC27A5):c.1338G>A (p.Gly446=) http://identifiers.org/clinvar/286655 ^@ NM_000036.2(AMPD1):c.1820G>A (p.Gly607Glu) http://identifiers.org/clinvar/286656 ^@ NM_020822.2(KCNT1):c.3027+12T>C http://identifiers.org/clinvar/286657 ^@ NM_004273.4(CHST3):c.1070G>A (p.Arg357Gln) http://identifiers.org/clinvar/286658 ^@ NM_001277313.1(FMN1):c.2462A>G (p.Lys821Arg) http://identifiers.org/clinvar/286659 ^@ NM_001277313.1(FMN1):c.2652A>G (p.Gly884=) http://identifiers.org/clinvar/286660 ^@ NM_002225.3(IVD):c.1117C>T (p.Gln373Ter) http://identifiers.org/clinvar/286661 ^@ NM_001453.2(FOXC1):c.1064C>T (p.Pro355Leu) http://identifiers.org/clinvar/286662 ^@ NM_000277.1(PAH):c.1002C>T (p.Cys334=) http://identifiers.org/clinvar/286663 ^@ NM_017890.4(VPS13B):c.4300-6G>A http://identifiers.org/clinvar/286664 ^@ NM_000528.3(MAN2B1):c.1928+10G>C http://identifiers.org/clinvar/286665 ^@ NM_000153.3(GALC):c.1567C>A (p.Pro523Thr) http://identifiers.org/clinvar/286666 ^@ NM_000370.3(TTPA):c.48G>A (p.Ala16=) http://identifiers.org/clinvar/286667 ^@ NM_133261.2(GIPC3):c.706-12G>A http://identifiers.org/clinvar/286668 ^@ NM_016239.3(MYO15A):c.1941A>C (p.Pro647=) http://identifiers.org/clinvar/286669 ^@ NM_016239.3(MYO15A):c.2680C>T (p.Pro894Ser) http://identifiers.org/clinvar/286670 ^@ NM_000489.4(ATRX):c.926A>G (p.Tyr309Cys) http://identifiers.org/clinvar/286671 ^@ NM_001039141.2(TRIOBP):c.6472+13_6472+14insT http://identifiers.org/clinvar/286672 ^@ NM_001077416.2(TMEM231):c.950A>C (p.Glu317Ala) http://identifiers.org/clinvar/286673 ^@ NM_001006657.1(WDR35):c.1288+1G>A http://identifiers.org/clinvar/286674 ^@ NM_025132.3(WDR19):c.2671C>T (p.His891Tyr) http://identifiers.org/clinvar/286675 ^@ NM_018418.4(SPATA7):c.757C>T (p.Leu253=) http://identifiers.org/clinvar/286676 ^@ NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) http://identifiers.org/clinvar/286677 ^@ NM_025132.3(WDR19):c.2365G>A (p.Gly789Ser) http://identifiers.org/clinvar/286678 ^@ NM_178452.5(DNAAF1):c.1567G>A (p.Val523Ile) http://identifiers.org/clinvar/286679 ^@ NM_025132.3(WDR19):c.2715G>A (p.Lys905=) http://identifiers.org/clinvar/286680 ^@ NM_001134831.1(AHI1):c.3546G>A (p.Met1182Ile) http://identifiers.org/clinvar/286681 ^@ NM_000492.3(CFTR):c.3297C>A (p.Phe1099Leu) http://identifiers.org/clinvar/286682 ^@ NM_001271620.2(ZNF423):c.3041G>A (p.Arg1014His) http://identifiers.org/clinvar/286683 ^@ NM_014425.4(INVS):c.1107T>C (p.His369=) http://identifiers.org/clinvar/286684 ^@ NM_138694.3(PKHD1):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/286685 ^@ NM_001039.3(SCNN1G):c.1575G>A (p.Glu525=) http://identifiers.org/clinvar/286686 ^@ NM_001271620.2(ZNF423):c.615C>T (p.Cys205=) http://identifiers.org/clinvar/286687 ^@ NM_001127897.3(RPGRIP1L):c.3304C>G (p.Pro1102Ala) http://identifiers.org/clinvar/286688 ^@ NM_032119.3(ADGRV1):c.15987C>T (p.Tyr5329=) http://identifiers.org/clinvar/286689 ^@ NM_018136.4(ASPM):c.4796G>A (p.Arg1599Gln) http://identifiers.org/clinvar/286690 ^@ NM_170740.1(ALDH5A1):c.1237G>A (p.Val413Ile) http://identifiers.org/clinvar/286691 ^@ NM_001127221.1(CACNA1A):c.5173G>A (p.Asp1725Asn) http://identifiers.org/clinvar/286692 ^@ NM_006922.3(SCN3A):c.3177A>G (p.Lys1059=) http://identifiers.org/clinvar/286693 ^@ NM_001048166.1(STIL):c.290T>C (p.Val97Ala) http://identifiers.org/clinvar/286694 ^@ NM_018136.4(ASPM):c.5471A>G (p.Gln1824Arg) http://identifiers.org/clinvar/286695 ^@ NM_005765.2(ATP6AP2):c.534+7G>A http://identifiers.org/clinvar/286696 ^@ NM_058246.3(DNAJB6):c.459A>C (p.Gly153=) http://identifiers.org/clinvar/286697 ^@ NM_182961.3(SYNE1):c.15227C>T (p.Ala5076Val) http://identifiers.org/clinvar/286698 ^@ NM_213599.2(ANO5):c.2144A>G (p.Gln715Arg) http://identifiers.org/clinvar/286699 ^@ NM_003742.2(ABCB11):c.2125G>A (p.Glu709Lys) http://identifiers.org/clinvar/286700 ^@ NM_018849.2(ABCB4):c.3832A>C (p.Ser1278Arg) http://identifiers.org/clinvar/286701 ^@ NM_006432.3(NPC2):c.270T>C (p.Pro90=) http://identifiers.org/clinvar/286702 ^@ NM_000214.2(JAG1):c.1056_1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs) http://identifiers.org/clinvar/286703 ^@ NM_004565.2(PEX14):c.825G>A (p.Ser275=) http://identifiers.org/clinvar/286704 ^@ NM_014425.4(INVS):c.3137_3138insTTC (p.Ser1046_Lys1047insSer) http://identifiers.org/clinvar/286705 ^@ NM_153240.4(NPHP3):c.2752A>G (p.Met918Val) http://identifiers.org/clinvar/286706 ^@ NM_003159.2(CDKL5):c.2151A>G (p.Arg717=) http://identifiers.org/clinvar/286707 ^@ NM_001110556.1(FLNA):c.6047C>T (p.Thr2016Met) http://identifiers.org/clinvar/286708 ^@ NM_000702.3(ATP1A2):c.2622T>C (p.Gly874=) http://identifiers.org/clinvar/286709 ^@ NM_001110556.1(FLNA):c.7362G>A (p.Thr2454=) http://identifiers.org/clinvar/286710 ^@ NM_020822.2(KCNT1):c.2849G>A (p.Arg950Gln) http://identifiers.org/clinvar/286711 ^@ NM_001130987.1(DYSF):c.2707G>A (p.Glu903Lys) http://identifiers.org/clinvar/286712 ^@ NM_033071.3(SYNE1):c.8578A>G (p.Thr2860Ala) http://identifiers.org/clinvar/286713 ^@ NM_000152.4(GAA):c.1053G>T (p.Val351=) http://identifiers.org/clinvar/286714 ^@ NM_004006.2(DMD):c.357+7A>G http://identifiers.org/clinvar/286715 ^@ NM_000152.4(GAA):c.534C>G (p.Arg178=) http://identifiers.org/clinvar/286716 ^@ NM_001165928.3(DAG1):c.244A>G (p.Ile82Val) http://identifiers.org/clinvar/286717 ^@ NM_001848.2(COL6A1):c.2810_2812delAGA (p.Lys937del) http://identifiers.org/clinvar/286718 ^@ NM_024301.4(FKRP):c.982_984delTAT (p.Tyr328del) http://identifiers.org/clinvar/286719 ^@ NM_004006.2(DMD):c.4845+8C>T http://identifiers.org/clinvar/286720 ^@ NM_000337.5(SGCD):c.443T>A (p.Leu148Ter) http://identifiers.org/clinvar/286721 ^@ NM_000232.4(SGCB):c.668G>A (p.Arg223His) http://identifiers.org/clinvar/286722 ^@ NM_001130987.1(DYSF):c.1321G>A (p.Glu441Lys) http://identifiers.org/clinvar/286723 ^@ NM_020361.4(CPA6):c.61T>A (p.Phe21Ile) http://identifiers.org/clinvar/286724 ^@ NM_201384.2(PLEC):c.4728G>A (p.Ala1576=) http://identifiers.org/clinvar/286725 ^@ NM_001267550.2(TTN):c.105605_105606delTG (p.Val35202Glyfs) http://identifiers.org/clinvar/286726 ^@ NM_001267550.2(TTN):c.66174C>T (p.Arg22058=) http://identifiers.org/clinvar/286727 ^@ NM_015295.2(SMCHD1):c.5478A>G (p.Val1826=) http://identifiers.org/clinvar/286728 ^@ NM_001848.2(COL6A1):c.2263G>A (p.Gly755Ser) http://identifiers.org/clinvar/286729 ^@ NM_003494.3(DYSF):c.4685dupT (p.Met1562Ilefs) http://identifiers.org/clinvar/286730 ^@ NM_005957.4(MTHFR):c.788A>C (p.His263Pro) http://identifiers.org/clinvar/286731 ^@ NM_012301.3(MAGI2):c.3083C>T (p.Ala1028Val) http://identifiers.org/clinvar/286732 ^@ NM_018100.3(EFHC1):c.1182delT (p.Gln395Argfs) http://identifiers.org/clinvar/286733 ^@ NM_005045.3(RELN):c.1923C>T (p.Asn641=) http://identifiers.org/clinvar/286734 ^@ NM_001127221.1(CACNA1A):c.3621A>G (p.Glu1207=) http://identifiers.org/clinvar/286735 ^@ NM_198428.2(BBS9):c.1918A>G (p.Ile640Val) http://identifiers.org/clinvar/286736 ^@ NM_025074.6(FRAS1):c.969G>A (p.Val323=) http://identifiers.org/clinvar/286737 ^@ NM_015072.4(TTLL5):c.2312C>G (p.Ser771Ter) http://identifiers.org/clinvar/286738 ^@ NM_002334.3(LRP4):c.3620A>G (p.Asn1207Ser) http://identifiers.org/clinvar/286739 ^@ NM_002334.3(LRP4):c.956G>A (p.Cys319Tyr) http://identifiers.org/clinvar/286740 ^@ NM_004006.2(DMD):c.6290+5G>A http://identifiers.org/clinvar/286741 ^@ NM_015295.2(SMCHD1):c.4799dupT (p.Leu1600Phefs) http://identifiers.org/clinvar/286742 ^@ NM_003494.3(DYSF):c.5198T>C (p.Ile1733Thr) http://identifiers.org/clinvar/286743 ^@ NM_001130987.1(DYSF):c.3175C>T (p.Arg1059Cys) http://identifiers.org/clinvar/286744 ^@ NM_001130987.1(DYSF):c.1006_1007delGAinsAT (p.Asp336Ile) http://identifiers.org/clinvar/286745 ^@ NM_004369.3(COL6A3):c.761delG (p.Gly254Glufs) http://identifiers.org/clinvar/286746 ^@ NM_032119.3(ADGRV1):c.2820A>G (p.Val940=) http://identifiers.org/clinvar/286747 ^@ NM_012188.4(FOXI1):c.997G>A (p.Gly333Ser) http://identifiers.org/clinvar/286748 ^@ NM_001039141.2(TRIOBP):c.3074G>A (p.Arg1025Gln) http://identifiers.org/clinvar/286749 ^@ NM_004086.2(COCH):c.198A>T (p.Val66=) http://identifiers.org/clinvar/286750 ^@ NM_000260.3(MYO7A):c.500G>C (p.Ser167Thr) http://identifiers.org/clinvar/286751 ^@ NM_001145809.1(MYH14):c.731G>A (p.Arg244Gln) http://identifiers.org/clinvar/286752 ^@ NM_138691.2(TMC1):c.924C>G (p.Asp308Glu) http://identifiers.org/clinvar/286753 ^@ NM_004586.2(RPS6KA3):c.1968G>A (p.Val656=) http://identifiers.org/clinvar/286754 ^@ NM_144612.6(LOXHD1):c.5885C>T (p.Thr1962Met) http://identifiers.org/clinvar/286755 ^@ NM_000260.3(MYO7A):c.2427G>T (p.Gln809His) http://identifiers.org/clinvar/286756 ^@ NM_001145809.1(MYH14):c.3884G>A (p.Arg1295Gln) http://identifiers.org/clinvar/286757 ^@ NM_022124.5(CDH23):c.3486G>C (p.Gly1162=) http://identifiers.org/clinvar/286758 ^@ NM_133261.2(GIPC3):c.614G>A (p.Arg205Gln) http://identifiers.org/clinvar/286759 ^@ NM_001039141.2(TRIOBP):c.2149C>G (p.Gln717Glu) http://identifiers.org/clinvar/286760 ^@ NM_020436.4(SALL4):c.766A>G (p.Thr256Ala) http://identifiers.org/clinvar/286761 ^@ NM_080680.2(COL11A2):c.3325C>T (p.Pro1109Ser) http://identifiers.org/clinvar/286762 ^@ NM_001879.5(MASP1):c.1125C>T (p.His375=) http://identifiers.org/clinvar/286763 ^@ NM_144612.6(LOXHD1):c.197C>G (p.Thr66Arg) http://identifiers.org/clinvar/286764 ^@ NM_007126.3(VCP):c.1121C>A (p.Ala374Asp) http://identifiers.org/clinvar/286765 ^@ NM_182914.2(SYNE2):c.15234A>G (p.Gln5078=) http://identifiers.org/clinvar/286766 ^@ NM_032273.3(TMEM126A):c.531A>G (p.Gln177=) http://identifiers.org/clinvar/286767 ^@ NM_201253.2(CRB1):c.1699T>C (p.Trp567Arg) http://identifiers.org/clinvar/286768 ^@ NM_015560.2(OPA1):c.1233T>C (p.Ala411=) http://identifiers.org/clinvar/286769 ^@ NM_001031710.2(KLHL7):c.767A>G (p.Asn256Ser) http://identifiers.org/clinvar/286770 ^@ NM_004385.4(VCAN):c.2506A>G (p.Met836Val) http://identifiers.org/clinvar/286771 ^@ NM_000390.3(CHM):c.1100G>T (p.Arg367Leu) http://identifiers.org/clinvar/286772 ^@ NM_054035.2(UNC119):c.379C>T (p.Arg127Cys) http://identifiers.org/clinvar/286773 ^@ NM_012469.3(PRPF6):c.772-7C>T http://identifiers.org/clinvar/286774 ^@ NM_001127464.2(ZNF469):c.8393A>G (p.Asp2798Gly) http://identifiers.org/clinvar/286775 ^@ NM_001999.3(FBN2):c.2555-6T>C http://identifiers.org/clinvar/286776 ^@ NM_001127464.2(ZNF469):c.2297G>A (p.Arg766Gln) http://identifiers.org/clinvar/286777 ^@ NM_015102.4(NPHP4):c.3118A>G (p.Met1040Val) http://identifiers.org/clinvar/286778 ^@ NM_014251.2(SLC25A13):c.1631T>C (p.Ile544Thr) http://identifiers.org/clinvar/286779 ^@ NM_014251.2(SLC25A13):c.235G>A (p.Val79Ile) http://identifiers.org/clinvar/286780 ^@ NM_001281463.1(SMC1A):c.1298T>C (p.Leu433Pro) http://identifiers.org/clinvar/286781 ^@ NM_032409.2(PINK1):c.434C>T (p.Thr145Met) http://identifiers.org/clinvar/286783 ^@ NM_000429.2(MAT1A):c.705C>T (p.Tyr235=) http://identifiers.org/clinvar/286784 ^@ NM_153638.3(PANK2):c.12C>T (p.Leu4=) http://identifiers.org/clinvar/286785 ^@ NM_001291415.1(KDM6A):c.151G>T (p.Gly51Ter) http://identifiers.org/clinvar/286786 ^@ NM_006662.2(SRCAP):c.791C>T (p.Pro264Leu) http://identifiers.org/clinvar/286787 ^@ NM_001429.3(EP300):c.5814G>A (p.Thr1938=) http://identifiers.org/clinvar/286788 ^@ NM_016180.4(SLC45A2):c.834C>G (p.Tyr278Ter) http://identifiers.org/clinvar/286789 ^@ NM_016180.4(SLC45A2):c.1016C>T (p.Thr339Ile) http://identifiers.org/clinvar/286790 ^@ NM_022436.2(ABCG5):c.28G>A (p.Gly10Arg) http://identifiers.org/clinvar/286791 ^@ NM_000392.4(ABCC2):c.2715A>T (p.Arg905Ser) http://identifiers.org/clinvar/286792 ^@ NM_022436.2(ABCG5):c.50T>G (p.Val17Gly) http://identifiers.org/clinvar/286793 ^@ NM_022436.2(ABCG5):c.148C>T (p.Arg50Cys) http://identifiers.org/clinvar/286794 ^@ NM_000214.2(JAG1):c.1920C>T (p.Asn640=) http://identifiers.org/clinvar/286795 ^@ NM_003742.2(ABCB11):c.2110T>C (p.Ser704Pro) http://identifiers.org/clinvar/286796 ^@ NM_000466.2(PEX1):c.1131delA (p.Asp378Metfs) http://identifiers.org/clinvar/286797 ^@ NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) http://identifiers.org/clinvar/286798 ^@ NM_024408.3(NOTCH2):c.4130G>T (p.Gly1377Val) http://identifiers.org/clinvar/286799 ^@ NM_001017995.2(SH3PXD2B):c.1102delC (p.Gln368Lysfs) http://identifiers.org/clinvar/286800 ^@ NM_178443.2(FERMT3):c.1930C>T (p.Arg644Trp) http://identifiers.org/clinvar/286801 ^@ NM_138694.3(PKHD1):c.6499C>A (p.Gln2167Lys) http://identifiers.org/clinvar/286802 ^@ NM_000543.4(SMPD1):c.529A>T (p.Asn177Tyr) http://identifiers.org/clinvar/286803 ^@ NM_025193.3(HSD3B7):c.166+7G>T http://identifiers.org/clinvar/286804 ^@ NM_005603.4(ATP8B1):c.3059T>C (p.Ile1020Thr) http://identifiers.org/clinvar/286805 ^@ NM_015102.4(NPHP4):c.1923C>T (p.Asn641=) http://identifiers.org/clinvar/286806 ^@ NM_018006.4(TRMU):c.146C>T (p.Thr49Ile) http://identifiers.org/clinvar/286807 ^@ NM_015102.4(NPHP4):c.274A>G (p.Asn92Asp) http://identifiers.org/clinvar/286808 ^@ NM_153818.1(PEX10):c.898C>T (p.Arg300Cys) http://identifiers.org/clinvar/286809 ^@ NM_001079867.1(PEX2):c.67C>T (p.Leu23Phe) http://identifiers.org/clinvar/286810 ^@ NM_000070.2(CAPN3):c.2125T>C (p.Ser709Pro) http://identifiers.org/clinvar/286811 ^@ NM_007171.3(POMT1):c.208C>A (p.His70Asn) http://identifiers.org/clinvar/286812 ^@ NM_013382.5(POMT2):c.2083T>C (p.Trp695Arg) http://identifiers.org/clinvar/286813 ^@ NM_000070.2(CAPN3):c.1043delG (p.Gly348Valfs) http://identifiers.org/clinvar/286814 ^@ NM_030632.2(ASXL3):c.1484delC (p.Pro495Leufs) http://identifiers.org/clinvar/286815 ^@ NM_001004334.3(GPR179):c.799_803delCAGGTinsTGATCTAC (p.Gln267_Leu602delinsTer) http://identifiers.org/clinvar/286816 ^@ NM_003494.3(DYSF):c.6022G>A (p.Glu2008Lys) http://identifiers.org/clinvar/286817 ^@ NM_033071.3(SYNE1):c.17427C>T (p.Arg5809=) http://identifiers.org/clinvar/286818 ^@ NM_001128227.2(GNE):c.326G>A (p.Gly109Glu) http://identifiers.org/clinvar/286819 ^@ NM_033071.3(SYNE1):c.1638T>C (p.Leu546=) http://identifiers.org/clinvar/286820 ^@ NM_024301.4(FKRP):c.613C>G (p.Arg205Gly) http://identifiers.org/clinvar/286821 ^@ NM_000070.2(CAPN3):c.2050C>T (p.His684Tyr) http://identifiers.org/clinvar/286822 ^@ NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) http://identifiers.org/clinvar/286823 ^@ NM_182961.3(SYNE1):c.17095C>T (p.Pro5699Ser) http://identifiers.org/clinvar/286824 ^@ NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) http://identifiers.org/clinvar/286825 ^@ NM_001848.2(COL6A1):c.2595G>C (p.Thr865=) http://identifiers.org/clinvar/286826 ^@ NM_033071.3(SYNE1):c.8017C>A (p.Gln2673Lys) http://identifiers.org/clinvar/286827 ^@ NM_001849.3(COL6A2):c.1947T>C (p.Ala649=) http://identifiers.org/clinvar/286828 ^@ NM_004006.2(DMD):c.3239A>G (p.Asp1080Gly) http://identifiers.org/clinvar/286829 ^@ NM_201647.2(STAMBP):c.106_108delTACinsAA (p.Tyr36Asnfs) http://identifiers.org/clinvar/286830 ^@ NM_001039141.2(TRIOBP):c.3885C>T (p.Ser1295=) http://identifiers.org/clinvar/286831 ^@ NM_001039141.2(TRIOBP):c.3899A>G (p.His1300Arg) http://identifiers.org/clinvar/286832 ^@ NM_003482.3(KMT2D):c.7643dupA (p.Pro2549Alafs) http://identifiers.org/clinvar/286833 ^@ NM_004006.2(DMD):c.4174C>T (p.Gln1392Ter) http://identifiers.org/clinvar/286834 ^@ NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) http://identifiers.org/clinvar/286835 ^@ NM_000350.2(ABCA4):c.2819C>G (p.Pro940Arg) http://identifiers.org/clinvar/286836 ^@ NM_206933.2(USH2A):c.7475C>T (p.Ser2492Leu) http://identifiers.org/clinvar/286837 ^@ NM_014249.3(NR2E3):c.230G>A (p.Arg77Gln) http://identifiers.org/clinvar/286838 ^@ NM_003664.4(AP3B1):c.2730T>C (p.Thr910=) http://identifiers.org/clinvar/286839 ^@ NM_005045.3(RELN):c.4354G>A (p.Asp1452Asn) http://identifiers.org/clinvar/286840 ^@ NM_000141.4(FGFR2):c.568C>T (p.Arg190Trp) http://identifiers.org/clinvar/286841 ^@ NM_016941.3(DLL3):c.677C>G (p.Pro226Arg) http://identifiers.org/clinvar/286842 ^@ NM_020436.4(SALL4):c.1287T>G (p.Phe429Leu) http://identifiers.org/clinvar/286843 ^@ NM_020223.3(FAM20C):c.1152C>T (p.Ile384=) http://identifiers.org/clinvar/286844 ^@ NM_001287.5(CLCN7):c.1806C>T (p.Tyr602=) http://identifiers.org/clinvar/286845 ^@ NM_000444.5(PHEX):c.1202C>T (p.Pro401Leu) http://identifiers.org/clinvar/286846 ^@ NM_023110.2(FGFR1):c.211G>T (p.Val71Leu) http://identifiers.org/clinvar/286847 ^@ NM_001110556.1(FLNA):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/286848 ^@ NC_000009.11:g.34649059_34649060insatggcgtcctttccc http://identifiers.org/clinvar/286849 ^@ NM_000169.2(GLA):c.999+2T>C http://identifiers.org/clinvar/286850 ^@ NM_003829.4(MPDZ):c.5302C>T (p.Gln1768Ter) http://identifiers.org/clinvar/286851 ^@ NM_000322.4(PRPH2):c.1016C>G (p.Ala339Gly) http://identifiers.org/clinvar/286852 ^@ NM_012338.3(TSPAN12):c.440C>A (p.Thr147Asn) http://identifiers.org/clinvar/286853 ^@ NM_002144.3(HOXB1):c.170T>A (p.Phe57Tyr) http://identifiers.org/clinvar/286854 ^@ NM_001410.2(MEGF8):c.3191C>T (p.Pro1064Leu) http://identifiers.org/clinvar/286855 ^@ NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) http://identifiers.org/clinvar/286856 ^@ NM_001034850.2(RETREG1):c.-19C= http://identifiers.org/clinvar/286857 ^@ NM_022464.4(SIL1):c.1029+6T>C http://identifiers.org/clinvar/286858 ^@ NM_153818.1(PEX10):c.975G>A (p.Ala325=) http://identifiers.org/clinvar/286859 ^@ NM_024408.3(NOTCH2):c.358A>C (p.Thr120Pro) http://identifiers.org/clinvar/286860 ^@ NM_022436.2(ABCG5):c.834G>A (p.Ala278=) http://identifiers.org/clinvar/286861 ^@ NM_000466.2(PEX1):c.525C>A (p.Leu175=) http://identifiers.org/clinvar/286862 ^@ NM_015102.4(NPHP4):c.2687G>A (p.Arg896Gln) http://identifiers.org/clinvar/286863 ^@ NM_018006.4(TRMU):c.296T>C (p.Ile99Thr) http://identifiers.org/clinvar/286864 ^@ NM_000018.3(ACADVL):c.878+5_878+8delGTGA http://identifiers.org/clinvar/286865 ^@ NM_003322.5(TULP1):c.200C>G (p.Thr67Arg) http://identifiers.org/clinvar/286866 ^@ NM_018418.4(SPATA7):c.220G>A (p.Val74Met) http://identifiers.org/clinvar/286868 ^@ NM_002653.4(PITX1):c.896G>C (p.Gly299Ala) http://identifiers.org/clinvar/286869 ^@ NM_000492.3(CFTR):c.1679+1G>A http://identifiers.org/clinvar/286870 ^@ NM_000543.4(SMPD1):c.319-17C>A http://identifiers.org/clinvar/286871 ^@ NM_001277313.1(FMN1):c.2799C>T (p.Ser933=) http://identifiers.org/clinvar/286872 ^@ NM_000460.3(THPO):c.*18G>A http://identifiers.org/clinvar/286873 ^@ NM_001128834.2(PLP1):c.739G>A (p.Ala247Thr) http://identifiers.org/clinvar/286874 ^@ NM_003482.3(KMT2D):c.13324delG (p.Ala4442Hisfs) http://identifiers.org/clinvar/286875 ^@ NM_020822.2(KCNT1):c.2944-22_2944-7del16 http://identifiers.org/clinvar/286876 ^@ NM_003482.3(KMT2D):c.5124_5125delAC (p.Arg1709Hisfs) http://identifiers.org/clinvar/286877 ^@ NM_000531.5(OTC):c.382G>C (p.Ala128Pro) http://identifiers.org/clinvar/286878 ^@ NM_001080.3(ALDH5A1):c.354+14G>A http://identifiers.org/clinvar/286879 ^@ NM_005876.4(SPEG):c.6694C>A (p.Pro2232Thr) http://identifiers.org/clinvar/286880 ^@ NM_005876.4(SPEG):c.6218G>A (p.Arg2073Gln) http://identifiers.org/clinvar/286881 ^@ NM_001305424.1(FMN2):c.846C>A (p.Ser282Arg) http://identifiers.org/clinvar/286882 ^@ NM_001305424.1(FMN2):c.883T>C (p.Ser295Pro) http://identifiers.org/clinvar/286883 ^@ NM_002335.3(LRP5):c.55_60delCTGCTG (p.Leu19_Leu20del) http://identifiers.org/clinvar/286884 ^@ NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) http://identifiers.org/clinvar/286885 ^@ NM_005603.4(ATP8B1):c.1813A>G (p.Ile605Val) http://identifiers.org/clinvar/286887 ^@ NM_025193.3(HSD3B7):c.357C>T (p.Thr119=) http://identifiers.org/clinvar/286888 ^@ NM_004813.2(PEX16):c.1002T>C (p.Ser334=) http://identifiers.org/clinvar/286889 ^@ NM_005603.4(ATP8B1):c.1469T>C (p.Ile490Thr) http://identifiers.org/clinvar/286890 ^@ NM_025193.3(HSD3B7):c.890delT (p.Phe297Serfs) http://identifiers.org/clinvar/286891 ^@ NM_000784.3(CYP27A1):c.1102_1104delGTGinsTTA (p.Val368Leu) http://identifiers.org/clinvar/286892 ^@ NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) http://identifiers.org/clinvar/286893 ^@ NM_033056.3(PCDH15):c.2138A>G (p.Asn713Ser) http://identifiers.org/clinvar/286894 ^@ NM_017890.4(VPS13B):c.7876G>A (p.Glu2626Lys) http://identifiers.org/clinvar/286895 ^@ NM_000202.7(IDS):c.301C>T (p.Arg101Cys) http://identifiers.org/clinvar/286896 ^@ NM_000543.4(SMPD1):c.1599G>A (p.Pro533=) http://identifiers.org/clinvar/286897 ^@ NM_001271208.1(NEB):c.5971-6dupT http://identifiers.org/clinvar/286898 ^@ NM_138694.3(PKHD1):c.8814G>A (p.Thr2938=) http://identifiers.org/clinvar/286899 ^@ NM_006731.2(FKTN):c.21C>T (p.Asn7=) http://identifiers.org/clinvar/286900 ^@ NM_000500.7(CYP21A2):c.45C>T (p.Gly15=) http://identifiers.org/clinvar/286901 ^@ NM_006261.4(PROP1):c.592T>C (p.Leu198=) http://identifiers.org/clinvar/286902 ^@ NM_000275.2(OCA2):c.1954T>A (p.Trp652Arg) http://identifiers.org/clinvar/286903 ^@ NM_000478.5(ALPL):c.734C>T (p.Thr245Met) http://identifiers.org/clinvar/286904 ^@ NM_001102608.1(COL6A6):c.3883C>T (p.Arg1295Ter) http://identifiers.org/clinvar/286905 ^@ NM_213599.2(ANO5):c.1915_1917delTGG (p.Trp639del) http://identifiers.org/clinvar/286906 ^@ NM_000070.2(CAPN3):c.259_262delCTCT (p.Leu87Phefs) http://identifiers.org/clinvar/286907 ^@ NM_182914.2(SYNE2):c.11457A>G (p.Thr3819=) http://identifiers.org/clinvar/286908 ^@ NM_007171.3(POMT1):c.913A>C (p.Ser305Arg) http://identifiers.org/clinvar/286909 ^@ NM_004006.2(DMD):c.9165G>A (p.Thr3055=) http://identifiers.org/clinvar/286910 ^@ NM_182961.3(SYNE1):c.12255G>A (p.Gln4085=) http://identifiers.org/clinvar/286911 ^@ NM_017739.3(POMGNT1):c.652+8C>T http://identifiers.org/clinvar/286912 ^@ NM_004369.3(COL6A3):c.4678G>A (p.Ala1560Thr) http://identifiers.org/clinvar/286913 ^@ NM_182961.3(SYNE1):c.4000C>T (p.Arg1334Cys) http://identifiers.org/clinvar/286914 ^@ NM_033071.3(SYNE1):c.15009A>C (p.Lys5003Asn) http://identifiers.org/clinvar/286915 ^@ NM_001267550.2(TTN):c.80124C>G (p.Ile26708Met) http://identifiers.org/clinvar/286916 ^@ NM_033071.3(SYNE1):c.12137C>T (p.Thr4046Met) http://identifiers.org/clinvar/286917 ^@ NM_213599.2(ANO5):c.1992dupT (p.Gly665Trpfs) http://identifiers.org/clinvar/286918 ^@ NM_001256850.1(TTN):c.100167C>T (p.Asp33389=) http://identifiers.org/clinvar/286919 ^@ NM_004369.3(COL6A3):c.7542delC (p.Phe2515Serfs) http://identifiers.org/clinvar/286920 ^@ NM_001130987.1(DYSF):c.628G>A (p.Gly210Arg) http://identifiers.org/clinvar/286921 ^@ NC_000023.10:g.32472914_32472915delCCinsG http://identifiers.org/clinvar/286922 ^@ NM_182961.3(SYNE1):c.7435A>G (p.Lys2479Glu) http://identifiers.org/clinvar/286923 ^@ NM_033071.3(SYNE1):c.2198A>G (p.Glu733Gly) http://identifiers.org/clinvar/286924 ^@ NM_001165928.3(DAG1):c.294G>A (p.Ala98=) http://identifiers.org/clinvar/286925 ^@ NM_004006.2(DMD):c.10846A>G (p.Thr3616Ala) http://identifiers.org/clinvar/286926 ^@ NM_033071.3(SYNE1):c.16949G>A (p.Arg5650Gln) http://identifiers.org/clinvar/286927 ^@ NM_004006.2(DMD):c.6092T>C (p.Leu2031Pro) http://identifiers.org/clinvar/286928 ^@ NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) http://identifiers.org/clinvar/286929 ^@ NM_182961.3(SYNE1):c.20546T>C (p.Val6849Ala) http://identifiers.org/clinvar/286930 ^@ NC_000002.11:g.179408253_179408384del56 http://identifiers.org/clinvar/286931 ^@ NM_213599.2(ANO5):c.482C>T (p.Pro161Leu) http://identifiers.org/clinvar/286932 ^@ NM_022132.4(MCCC2):c.652G>A (p.Ala218Thr) http://identifiers.org/clinvar/286933 ^@ NM_022132.4(MCCC2):c.214C>T (p.Arg72Ter) http://identifiers.org/clinvar/286934 ^@ NM_005477.2(HCN4):c.433C>G (p.Pro145Ala) http://identifiers.org/clinvar/286935 ^@ NM_001909.4(CTSD):c.-1_1insGCC http://identifiers.org/clinvar/286936 ^@ NM_000272.3(NPHP1):c.329+1G>A http://identifiers.org/clinvar/286937 ^@ NM_138694.3(PKHD1):c.122T>G (p.Ile41Ser) http://identifiers.org/clinvar/286938 ^@ NM_014780.4(CUL7):c.981C>T (p.Pro327=) http://identifiers.org/clinvar/286939 ^@ NM_014780.4(CUL7):c.4482C>T (p.Ser1494=) http://identifiers.org/clinvar/286940 ^@ NM_004560.3(ROR2):c.1153C>T (p.Arg385Cys) http://identifiers.org/clinvar/286941 ^@ NM_198525.2(KIF7):c.3514C>A (p.Arg1172=) http://identifiers.org/clinvar/286942 ^@ NM_006037.3(HDAC4):c.1991A>G (p.Lys664Arg) http://identifiers.org/clinvar/286943 ^@ NM_006516.2(SLC2A1):c.987G>A (p.Glu329=) http://identifiers.org/clinvar/286944 ^@ NM_018136.4(ASPM):c.8309T>G (p.Val2770Gly) http://identifiers.org/clinvar/286945 ^@ NM_001083961.1(WDR62):c.1342T>A (p.Ser448Thr) http://identifiers.org/clinvar/286946 ^@ NM_001044385.2(TMEM237):c.1090G>A (p.Val364Met) http://identifiers.org/clinvar/286947 ^@ NM_032119.3(ADGRV1):c.5658A>G (p.Thr1886=) http://identifiers.org/clinvar/286948 ^@ NM_001130438.2(SPTAN1):c.3974G>T (p.Gly1325Val) http://identifiers.org/clinvar/286949 ^@ NM_002979.4(SCP2):c.687T>C (p.Asp229=) http://identifiers.org/clinvar/286950 ^@ NM_175073.2(APTX):c.953G>A (p.Arg318His) http://identifiers.org/clinvar/286951 ^@ NM_001083961.1(WDR62):c.2580C>T (p.Pro860=) http://identifiers.org/clinvar/286952 ^@ NM_006920.4(SCN1A):c.4779delG (p.Trp1593Terfs) http://identifiers.org/clinvar/286953 ^@ NM_004380.2(CREBBP):c.5334G>A (p.Ser1778=) http://identifiers.org/clinvar/286954 ^@ NM_004560.3(ROR2):c.822C>T (p.Asn274=) http://identifiers.org/clinvar/286955 ^@ NM_006261.4(PROP1):c.193C>T (p.Arg65Cys) http://identifiers.org/clinvar/286956 ^@ NM_014780.4(CUL7):c.5080T>G (p.Phe1694Val) http://identifiers.org/clinvar/286957 ^@ NM_001033855.2(DCLRE1C):c.1101A>G (p.Pro367=) http://identifiers.org/clinvar/286958 ^@ NM_033056.3(PCDH15):c.2908G>A (p.Val970Ile) http://identifiers.org/clinvar/286959 ^@ NM_033056.3(PCDH15):c.1998C>T (p.Thr666=) http://identifiers.org/clinvar/286960 ^@ NM_033056.3(PCDH15):c.4294G>C (p.Val1432Leu) http://identifiers.org/clinvar/286961 ^@ NM_024729.3(MYH14):c.2956C>T (p.Leu986=) http://identifiers.org/clinvar/286962 ^@ NM_015600.4(ABHD12):c.1141C>T (p.Leu381=) http://identifiers.org/clinvar/286963 ^@ NM_144672.3(OTOA):c.1173G>A (p.Ser391=) http://identifiers.org/clinvar/286964 ^@ NM_016247.3(IMPG2):c.829-1G>T http://identifiers.org/clinvar/286965 ^@ NM_001195794.1(CLRN1):c.610G>A (p.Val204Ile) http://identifiers.org/clinvar/286966 ^@ NM_001030311.2(CERKL):c.191G>A (p.Ser64Asn) http://identifiers.org/clinvar/286967 ^@ NM_152564.4(VPS13B):c.8201G>A (p.Arg2734Gln) http://identifiers.org/clinvar/286968 ^@ NM_176824.2(BBS7):c.1158A>G (p.Thr386=) http://identifiers.org/clinvar/286969 ^@ NM_001134831.1(AHI1):c.2294C>T (p.Thr765Ile) http://identifiers.org/clinvar/286970 ^@ NM_000548.4(TSC2):c.1818C>T (p.Ile606=) http://identifiers.org/clinvar/286971 ^@ NM_006920.4(SCN1A):c.144C>T (p.Gly48=) http://identifiers.org/clinvar/286972 ^@ NM_001291858.1(IGF1R):c.3088G>A (p.Ala1030Thr) http://identifiers.org/clinvar/286973 ^@ NM_001111035.2(ACP5):c.127C>T (p.His43Tyr) http://identifiers.org/clinvar/286974 ^@ NM_000346.3(SOX9):c.356C>A (p.Ala119Glu) http://identifiers.org/clinvar/286975 ^@ NM_004260.3(RECQL4):c.2728G>A (p.Val910Ile) http://identifiers.org/clinvar/286976 ^@ NM_014319.4(LEMD3):c.1746C>T (p.Ile582=) http://identifiers.org/clinvar/286977 ^@ NM_001457.3(FLNB):c.3144C>T (p.Pro1048=) http://identifiers.org/clinvar/286978 ^@ NM_015272.4(RPGRIP1L):c.1682G>A (p.Arg561His) http://identifiers.org/clinvar/286979 ^@ NM_032580.3(HES7):c.138+9C>T http://identifiers.org/clinvar/286980 ^@ NM_001014796.1(DDR2):c.357G>A (p.Lys119=) http://identifiers.org/clinvar/286981 ^@ NM_000287.3(PEX6):c.2095-21_2095-10delCACGCACTTTCC http://identifiers.org/clinvar/286982 ^@ NM_001163213.1(FGFR3):c.712C>T (p.Arg238Trp) http://identifiers.org/clinvar/286983 ^@ NM_001844.4(COL2A1):c.2788G>C (p.Gly930Arg) http://identifiers.org/clinvar/286984 ^@ NM_133378.4(TTN):c.98053G>A (p.Val32685Met) http://identifiers.org/clinvar/286985 ^@ NM_004006.2(DMD):c.8027+7A>T http://identifiers.org/clinvar/286987 ^@ NM_198586.2(NHLRC1):c.153C>G (p.Cys51Trp) http://identifiers.org/clinvar/286988 ^@ NM_000168.5(GLI3):c.4560G>A (p.Ser1520=) http://identifiers.org/clinvar/286989 ^@ NM_006486.2(FBLN1):c.1012G>A (p.Val338Met) http://identifiers.org/clinvar/286990 ^@ NM_003722.4(TP63):c.1531C>A (p.Pro511Thr) http://identifiers.org/clinvar/286991 ^@ NM_025114.3(CEP290):c.7311_7313delGAA (p.Lys2437del) http://identifiers.org/clinvar/286992 ^@ NM_000466.2(PEX1):c.3426C>T (p.Thr1142=) http://identifiers.org/clinvar/286993 ^@ NM_153818.1(PEX10):c.871C>A (p.Pro291Thr) http://identifiers.org/clinvar/286994 ^@ NM_000492.3(CFTR):c.1436A>C (p.Glu479Ala) http://identifiers.org/clinvar/286995 ^@ NM_153240.4(NPHP3):c.3062C>T (p.Ala1021Val) http://identifiers.org/clinvar/286996 ^@ NM_015102.4(NPHP4):c.3851G>A (p.Arg1284His) http://identifiers.org/clinvar/286997 ^@ NM_001165927.1(MKS1):c.1279G>C (p.Val427Leu) http://identifiers.org/clinvar/286998 ^@ NM_000780.3(CYP7A1):c.108T>A (p.Asn36Lys) http://identifiers.org/clinvar/286999 ^@ NM_000463.2(UGT1A1):c.1324C>T (p.Arg442Cys) http://identifiers.org/clinvar/287000 ^@ NM_000319.4(PEX5):c.135G>C (p.Pro45=) http://identifiers.org/clinvar/287001 ^@ NM_014251.2(SLC25A13):c.882T>C (p.Ala294=) http://identifiers.org/clinvar/287002 ^@ NM_015102.4(NPHP4):c.2458C>T (p.Arg820Trp) http://identifiers.org/clinvar/287003 ^@ NM_022437.2(ABCG8):c.1094C>T (p.Thr365Met) http://identifiers.org/clinvar/287004 ^@ NM_000319.4(PEX5):c.258C>T (p.Asp86=) http://identifiers.org/clinvar/287005 ^@ NM_000784.3(CYP27A1):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/287006 ^@ NM_006859.3(LIAS):c.301A>G (p.Asn101Asp) http://identifiers.org/clinvar/287007 ^@ NM_001130438.2(SPTAN1):c.6652C>T (p.His2218Tyr) http://identifiers.org/clinvar/287008 ^@ NM_005045.3(RELN):c.8843+9A>G http://identifiers.org/clinvar/287009 ^@ NM_001037.4(SCN1B):c.168G>C (p.Glu56Asp) http://identifiers.org/clinvar/287010 ^@ NM_000548.4(TSC2):c.126G>A (p.Ala42=) http://identifiers.org/clinvar/287011 ^@ NM_022137.5(SMOC1):c.886G>T (p.Ala296Ser) http://identifiers.org/clinvar/287012 ^@ NM_006037.3(HDAC4):c.1100C>T (p.Thr367Met) http://identifiers.org/clinvar/287013 ^@ NM_004086.2(COCH):c.153A>C (p.Pro51=) http://identifiers.org/clinvar/287014 ^@ NM_001692.3(ATP6V1B1):c.196G>A (p.Val66Ile) http://identifiers.org/clinvar/287015 ^@ NM_001453.2(FOXC1):c.363C>T (p.Gly121=) http://identifiers.org/clinvar/287016 ^@ NM_004586.2(RPS6KA3):c.1884A>T (p.Glu628Asp) http://identifiers.org/clinvar/287017 ^@ NM_018344.5(SLC29A3):c.325G>A (p.Val109Ile) http://identifiers.org/clinvar/287018 ^@ NM_022124.5(CDH23):c.5667C>T (p.Asn1889=) http://identifiers.org/clinvar/287019 ^@ NM_001083602.1(PTCH1):c.1813dupC (p.His605Profs) http://identifiers.org/clinvar/287020 ^@ NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) http://identifiers.org/clinvar/287021 ^@ NM_000124.3(ERCC6):c.1888T>C (p.Leu630=) http://identifiers.org/clinvar/287022 ^@ NM_001123385.1(BCOR):c.2525T>C (p.Val842Ala) http://identifiers.org/clinvar/287023 ^@ NM_139058.2(ARX):c.790delC (p.Arg264Glyfs) http://identifiers.org/clinvar/287024 ^@ NM_005334.2(HCFC1):c.1741G>A (p.Ala581Thr) http://identifiers.org/clinvar/287025 ^@ NM_004006.2(DMD):c.8436T>C (p.Leu2812=) http://identifiers.org/clinvar/287026 ^@ NM_015295.2(SMCHD1):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/287027 ^@ NM_012210.3(TRIM32):c.700C>A (p.Gln234Lys) http://identifiers.org/clinvar/287028 ^@ NM_033071.3(SYNE1):c.8094C>T (p.Ala2698=) http://identifiers.org/clinvar/287029 ^@ NM_004369.3(COL6A3):c.4227G>A (p.Thr1409=) http://identifiers.org/clinvar/287030 ^@ NM_001849.3(COL6A2):c.866G>A (p.Gly289Asp) http://identifiers.org/clinvar/287031 ^@ NM_004369.3(COL6A3):c.9494-5C>T http://identifiers.org/clinvar/287033 ^@ NM_000543.4(SMPD1):c.441G>A (p.Val147=) http://identifiers.org/clinvar/287034 ^@ NM_000319.4(PEX5):c.1683C>T (p.Leu561=) http://identifiers.org/clinvar/287035 ^@ NM_003742.2(ABCB11):c.616A>G (p.Ile206Val) http://identifiers.org/clinvar/287036 ^@ NM_024408.3(NOTCH2):c.6479A>G (p.Tyr2160Cys) http://identifiers.org/clinvar/287037 ^@ NM_000199.3(SGSH):c.1272_1282delCAAGGACCTCC (p.Tyr424Terfs) http://identifiers.org/clinvar/287038 ^@ NM_000238.3(KCNH2):c.2683_2684insGGCGCA (p.Arg894_Thr895insArgArg) http://identifiers.org/clinvar/287039 ^@ NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) http://identifiers.org/clinvar/287040 ^@ NM_002693.2(POLG):c.983A>G (p.Gln328Arg) http://identifiers.org/clinvar/287041 ^@ NM_014363.5(SACS):c.4469C>G (p.Ala1490Gly) http://identifiers.org/clinvar/287042 ^@ NM_080632.2(UPF3B):c.52A>C (p.Thr18Pro) http://identifiers.org/clinvar/287043 ^@ NM_002900.2(RBP3):c.1641G>A (p.Thr547=) http://identifiers.org/clinvar/287044 ^@ NM_006017.2(PROM1):c.321A>C (p.Ala107=) http://identifiers.org/clinvar/287045 ^@ NM_002247.3(KCNMA1):c.2373C>T (p.Asp791=) http://identifiers.org/clinvar/287046 ^@ NM_000466.2(PEX1):c.3304_3305insAT (p.Cys1102Tyrfs) http://identifiers.org/clinvar/287047 ^@ NM_005677.3(COLQ):c.106+6T>C http://identifiers.org/clinvar/287048 ^@ NM_000257.3(MYH7):c.3245+2T>C http://identifiers.org/clinvar/287049 ^@ NM_005055.4(RAPSN):c.567G>A (p.Ala189=) http://identifiers.org/clinvar/287050 ^@ NM_001297.4(CNGB1):c.1828G>A (p.Ala610Thr) http://identifiers.org/clinvar/287051 ^@ NM_206933.2(USH2A):c.9037G>A (p.Ala3013Thr) http://identifiers.org/clinvar/287052 ^@ NM_001077182.2(FSCN2):c.718G>A (p.Ala240Thr) http://identifiers.org/clinvar/287053 ^@ NM_000539.3(RHO):c.362-10T>C http://identifiers.org/clinvar/287054 ^@ NM_001297.4(CNGB1):c.2128C>T (p.Gln710Ter) http://identifiers.org/clinvar/287055 ^@ NM_000554.5(CRX):c.618C>T (p.Ser206=) http://identifiers.org/clinvar/287056 ^@ NM_032985.4(SEC23B):c.519G>A (p.Val173=) http://identifiers.org/clinvar/287057 ^@ NM_052859.3(RFT1):c.1388C>T (p.Ala463Val) http://identifiers.org/clinvar/287058 ^@ NM_021615.4(CHST6):c.976G>T (p.Ala326Ser) http://identifiers.org/clinvar/287059 ^@ NM_032119.3(ADGRV1):c.14317A>G (p.Ile4773Val) http://identifiers.org/clinvar/287060 ^@ NM_005957.4(MTHFR):c.853G>A (p.Glu285Lys) http://identifiers.org/clinvar/287061 ^@ NM_001182.4(ALDH7A1):c.63T>C (p.Pro21=) http://identifiers.org/clinvar/287062 ^@ NM_182734.2(PLCB1):c.3039G>A (p.Gln1013=) http://identifiers.org/clinvar/287063 ^@ NM_005477.2(HCN4):c.1978+3G>T http://identifiers.org/clinvar/287064 ^@ NM_006920.4(SCN1A):c.4096A>G (p.Ile1366Val) http://identifiers.org/clinvar/287065 ^@ NM_001083961.1(WDR62):c.2610A>G (p.Gln870=) http://identifiers.org/clinvar/287066 ^@ NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) http://identifiers.org/clinvar/287067 ^@ NM_001844.4(COL2A1):c.1340G>A (p.Gly447Asp) http://identifiers.org/clinvar/287068 ^@ NM_004463.2(FGD1):c.2816A>C (p.Glu939Ala) http://identifiers.org/clinvar/287069 ^@ NM_000553.4(WRN):c.1005A>T (p.Glu335Asp) http://identifiers.org/clinvar/287070 ^@ NM_001142617.1(STRA6):c.1840+4C>T http://identifiers.org/clinvar/287071 ^@ NM_001202.5(BMP4):c.304A>G (p.Thr102Ala) http://identifiers.org/clinvar/287072 ^@ NM_001429.3(EP300):c.5711A>C (p.Gln1904Pro) http://identifiers.org/clinvar/287073 ^@ NM_000283.3(PDE6B):c.2152G>A (p.Asp718Asn) http://identifiers.org/clinvar/287074 ^@ NM_006017.2(PROM1):c.1928C>G (p.Ala643Gly) http://identifiers.org/clinvar/287075 ^@ NM_206933.2(USH2A):c.13586C>T (p.Pro4529Leu) http://identifiers.org/clinvar/287076 ^@ NM_012469.3(PRPF6):c.2431+9delG http://identifiers.org/clinvar/287077 ^@ NM_207346.2(TSEN54):c.176G>A (p.Arg59Gln) http://identifiers.org/clinvar/287078 ^@ NM_013335.3(GMPPA):c.486C>G (p.His162Gln) http://identifiers.org/clinvar/287079 ^@ NM_014080.4(DUOX2):c.1588A>T (p.Lys530Ter) http://identifiers.org/clinvar/287080 ^@ NM_000520.5(HEXA):c.1435G>A (p.Ala479Thr) http://identifiers.org/clinvar/287081 ^@ NM_080629.2(COL11A1):c.1237T>C (p.Phe413Leu) http://identifiers.org/clinvar/287082 ^@ NC_000002.11:g.196C>T http://identifiers.org/clinvar/287083 ^@ NM_006080.2(SEMA3A):c.1654C>T (p.Arg552Cys) http://identifiers.org/clinvar/287084 ^@ NM_004168.3(SDHA):c.206C>T (p.Ala69Val) http://identifiers.org/clinvar/287085 ^@ NM_006662.2(SRCAP):c.3047G>A (p.Arg1016Gln) http://identifiers.org/clinvar/287086 ^@ NM_003227.3(TFR2):c.840C>G (p.Phe280Leu) http://identifiers.org/clinvar/287087 ^@ NM_138694.3(PKHD1):c.3303A>G (p.Thr1101=) http://identifiers.org/clinvar/287088 ^@ NM_000319.4(PEX5):c.663G>A (p.Gln221=) http://identifiers.org/clinvar/287089 ^@ NM_032119.3(ADGRV1):c.2740T>C (p.Tyr914His) http://identifiers.org/clinvar/287090 ^@ NM_170740.1(ALDH5A1):c.1387G>A (p.Asp463Asn) http://identifiers.org/clinvar/287091 ^@ NM_005045.3(RELN):c.3411C>T (p.Gly1137=) http://identifiers.org/clinvar/287092 ^@ NM_001169109.1(SCO2):c.697C>G (p.Pro233Ala) http://identifiers.org/clinvar/287093 ^@ NM_133259.3(LRPPRC):c.3277G>A (p.Ala1093Thr) http://identifiers.org/clinvar/287094 ^@ NM_002618.3(PEX13):c.880C>T (p.Arg294Trp) http://identifiers.org/clinvar/287095 ^@ NM_004817.3(TJP2):c.1818G>A (p.Ser606=) http://identifiers.org/clinvar/287096 ^@ NM_015102.4(NPHP4):c.3777G>A (p.Arg1259=) http://identifiers.org/clinvar/287097 ^@ NM_017929.5(PEX26):c.911G>A (p.Arg304His) http://identifiers.org/clinvar/315976 ^@ NM_173500.3(TTBK2):c.3427A>G (p.Ser1143Gly) http://identifiers.org/clinvar/315980 ^@ NM_173500.3(TTBK2):c.3185C>T (p.Thr1062Ile) http://identifiers.org/clinvar/300898 ^@ NM_012330.3(KAT6B):c.5744C>T (p.Thr1915Ile) http://identifiers.org/clinvar/300899 ^@ NM_012330.3(KAT6B):c.5809G>T (p.Ala1937Ser) http://identifiers.org/clinvar/300901 ^@ NM_012330.3(KAT6B):c.6048G>A (p.Thr2016=) http://identifiers.org/clinvar/300272 ^@ NM_000399.4(EGR2):c.*288G>A http://identifiers.org/clinvar/306640 ^@ NM_139319.2(SLC17A8):c.*244G>A http://identifiers.org/clinvar/300277 ^@ NM_000399.4(EGR2):c.918C>T (p.Ala306=) http://identifiers.org/clinvar/315983 ^@ NM_173500.3(TTBK2):c.2525A>G (p.Glu842Gly) http://identifiers.org/clinvar/300293 ^@ NM_018055.4(NODAL):c.*480G>A http://identifiers.org/clinvar/300903 ^@ NM_012330.3(KAT6B):c.*131T>A http://identifiers.org/clinvar/300913 ^@ NM_012330.3(KAT6B):c.*711G>C http://identifiers.org/clinvar/315986 ^@ NM_173500.3(TTBK2):c.2291G>A (p.Arg764Lys) http://identifiers.org/clinvar/300920 ^@ NM_002247.3(KCNMA1):c.*2373dupA http://identifiers.org/clinvar/315993 ^@ NM_173500.3(TTBK2):c.1499G>C (p.Arg500Pro) http://identifiers.org/clinvar/315995 ^@ NM_173500.3(TTBK2):c.1059C>T (p.Ser353=) http://identifiers.org/clinvar/315997 ^@ NM_173500.3(TTBK2):c.937A>G (p.Thr313Ala) http://identifiers.org/clinvar/300921 ^@ NM_002247.3(KCNMA1):c.*2325T>A http://identifiers.org/clinvar/315999 ^@ NM_173500.3(TTBK2):c.-51C>T http://identifiers.org/clinvar/316003 ^@ NM_173500.3(TTBK2):c.-266_-264delGCC http://identifiers.org/clinvar/300924 ^@ NM_002247.3(KCNMA1):c.*2183C>T http://identifiers.org/clinvar/316004 ^@ NM_173500.3(TTBK2):c.-279C>A http://identifiers.org/clinvar/306642 ^@ NM_139319.2(SLC17A8):c.*357A>G http://identifiers.org/clinvar/306644 ^@ NM_139319.2(SLC17A8):c.*534T>C http://identifiers.org/clinvar/300926 ^@ NM_002247.3(KCNMA1):c.*2025_*2026dupTA http://identifiers.org/clinvar/316007 ^@ NM_000119.2(EPB42):c.2122A>G (p.Asn708Asp) http://identifiers.org/clinvar/300927 ^@ NM_002247.3(KCNMA1):c.*1957C>T http://identifiers.org/clinvar/300938 ^@ NM_002247.3(KCNMA1):c.*1165C>T http://identifiers.org/clinvar/300942 ^@ NM_002247.3(KCNMA1):c.*1006G>A http://identifiers.org/clinvar/316009 ^@ NM_000119.2(EPB42):c.1857C>A (p.His619Gln) http://identifiers.org/clinvar/300954 ^@ NM_002247.3(KCNMA1):c.*394C>A http://identifiers.org/clinvar/316017 ^@ NM_000119.2(EPB42):c.1167C>T (p.Val389=) http://identifiers.org/clinvar/300960 ^@ NM_002247.3(KCNMA1):c.2109G>A (p.Pro703=) http://identifiers.org/clinvar/300961 ^@ NM_002247.3(KCNMA1):c.2015+5G>C http://identifiers.org/clinvar/300965 ^@ NM_002247.3(KCNMA1):c.1407C>T (p.Ser469=) http://identifiers.org/clinvar/300295 ^@ NM_018055.4(NODAL):c.*404T>C http://identifiers.org/clinvar/316046 ^@ NM_201631.3(TGM5):c.1252C>A (p.Gln418Lys) http://identifiers.org/clinvar/300299 ^@ NM_018055.4(NODAL):c.963G>A (p.Leu321=) http://identifiers.org/clinvar/300966 ^@ NM_002247.3(KCNMA1):c.1209G>A (p.Ala403=) http://identifiers.org/clinvar/316047 ^@ NM_201631.3(TGM5):c.1209C>T (p.Cys403=) http://identifiers.org/clinvar/316050 ^@ NM_201631.3(TGM5):c.1055C>G (p.Ala352Gly) http://identifiers.org/clinvar/300300 ^@ NM_018055.4(NODAL):c.593C>A (p.Ser198Tyr) http://identifiers.org/clinvar/316053 ^@ NM_201631.3(TGM5):c.918C>T (p.His306=) http://identifiers.org/clinvar/300968 ^@ NM_002247.3(KCNMA1):c.1131+11dupA http://identifiers.org/clinvar/300969 ^@ NM_002247.3(KCNMA1):c.945C>T (p.Ala315=) http://identifiers.org/clinvar/300970 ^@ NM_002247.3(KCNMA1):c.884+15G>A http://identifiers.org/clinvar/316056 ^@ NM_201631.3(TGM5):c.821G>A (p.Arg274His) http://identifiers.org/clinvar/300976 ^@ NM_002247.3(KCNMA1):c.-25C>T http://identifiers.org/clinvar/300979 ^@ NM_002247.3(KCNMA1):c.-104_-96dupGGCGGCAGC http://identifiers.org/clinvar/306649 ^@ NM_139319.2(SLC17A8):c.*1306C>T http://identifiers.org/clinvar/300984 ^@ NM_007055.3(POLR3A):c.*2073C>A http://identifiers.org/clinvar/300303 ^@ NM_018055.4(NODAL):c.417C>T (p.Val139=) http://identifiers.org/clinvar/300305 ^@ NM_018055.4(NODAL):c.357C>T (p.Pro119=) http://identifiers.org/clinvar/300986 ^@ NM_007055.3(POLR3A):c.*1965A>G http://identifiers.org/clinvar/316067 ^@ NM_025137.3(SPG11):c.*394_*398dupATCTT http://identifiers.org/clinvar/316076 ^@ NM_025137.3(SPG11):c.7000-8C>T http://identifiers.org/clinvar/306653 ^@ NM_139319.2(SLC17A8):c.*1498_*1499insTT http://identifiers.org/clinvar/316088 ^@ NM_025137.3(SPG11):c.5595A>G (p.Thr1865=) http://identifiers.org/clinvar/316092 ^@ NM_025137.3(SPG11):c.4204C>T (p.His1402Tyr) http://identifiers.org/clinvar/316100 ^@ NM_025137.3(SPG11):c.2621-15T>C http://identifiers.org/clinvar/300991 ^@ NM_007055.3(POLR3A):c.*1873C>T http://identifiers.org/clinvar/300993 ^@ NM_007055.3(POLR3A):c.*1867A>G http://identifiers.org/clinvar/300994 ^@ NM_007055.3(POLR3A):c.*1862G>A http://identifiers.org/clinvar/300998 ^@ NM_007055.3(POLR3A):c.*1771_*1780delTTGTCTTCTG http://identifiers.org/clinvar/300307 ^@ NM_018055.4(NODAL):c.281G>A (p.Arg94Gln) http://identifiers.org/clinvar/316103 ^@ NM_025137.3(SPG11):c.2169C>T (p.Gly723=) http://identifiers.org/clinvar/316107 ^@ NM_025137.3(SPG11):c.1588A>G (p.Ile530Val) http://identifiers.org/clinvar/300310 ^@ NM_018055.4(NODAL):c.216C>T (p.Asn72=) http://identifiers.org/clinvar/300317 ^@ NM_001083116.1(PRF1):c.*486T>C http://identifiers.org/clinvar/316109 ^@ NM_025137.3(SPG11):c.1292C>T (p.Ser431Phe) http://identifiers.org/clinvar/316120 ^@ NM_014080.4(DUOX2):c.*1357A>G http://identifiers.org/clinvar/300323 ^@ NM_001083116.1(PRF1):c.*112G>A http://identifiers.org/clinvar/316128 ^@ NM_014080.4(DUOX2):c.*478G>A http://identifiers.org/clinvar/316129 ^@ NM_014080.4(DUOX2):c.*453T>C http://identifiers.org/clinvar/300999 ^@ NM_007055.3(POLR3A):c.*1763G>A http://identifiers.org/clinvar/316132 ^@ NM_014080.4(DUOX2):c.*37C>T http://identifiers.org/clinvar/316135 ^@ NM_014080.4(DUOX2):c.4572G>T (p.Lys1524Asn) http://identifiers.org/clinvar/306658 ^@ NM_139319.2(SLC17A8):c.*1502T>G http://identifiers.org/clinvar/316136 ^@ NM_014080.4(DUOX2):c.4432C>T (p.Arg1478Trp) http://identifiers.org/clinvar/300329 ^@ NM_001083116.1(PRF1):c.961G>A (p.Gly321Arg) http://identifiers.org/clinvar/300335 ^@ NM_001083116.1(PRF1):c.132C>A (p.Ala44=) http://identifiers.org/clinvar/300339 ^@ NM_001083116.1(PRF1):c.-82G>A http://identifiers.org/clinvar/301001 ^@ NM_007055.3(POLR3A):c.*1695G>A http://identifiers.org/clinvar/301004 ^@ NM_007055.3(POLR3A):c.*1589G>A http://identifiers.org/clinvar/306659 ^@ NM_139319.2(SLC17A8):c.*1506_*1507insG http://identifiers.org/clinvar/306706 ^@ NM_002465.3(MYBPC1):c.-13T>C http://identifiers.org/clinvar/306714 ^@ NM_002465.3(MYBPC1):c.51_56delACCCCC (p.Pro18_Pro19del) http://identifiers.org/clinvar/301006 ^@ NM_007055.3(POLR3A):c.*1461A>G http://identifiers.org/clinvar/300342 ^@ NM_000281.3(PCBD1):c.*253T>A http://identifiers.org/clinvar/301007 ^@ NM_007055.3(POLR3A):c.*1448A>G http://identifiers.org/clinvar/316141 ^@ NM_014080.4(DUOX2):c.4049C>T (p.Pro1350Leu) http://identifiers.org/clinvar/316143 ^@ NM_014080.4(DUOX2):c.3830C>G (p.Ala1277Gly) http://identifiers.org/clinvar/301009 ^@ NM_007055.3(POLR3A):c.*1323C>T http://identifiers.org/clinvar/316153 ^@ NM_014080.4(DUOX2):c.3261G>A (p.Ala1087=) http://identifiers.org/clinvar/316155 ^@ NM_014080.4(DUOX2):c.3127G>A (p.Val1043Met) http://identifiers.org/clinvar/300343 ^@ NM_000281.3(PCBD1):c.*116C>T http://identifiers.org/clinvar/300345 ^@ NM_000281.3(PCBD1):c.*36G>A http://identifiers.org/clinvar/301012 ^@ NM_007055.3(POLR3A):c.*1207T>C http://identifiers.org/clinvar/316158 ^@ NM_014080.4(DUOX2):c.3050A>G (p.Glu1017Gly) http://identifiers.org/clinvar/301014 ^@ NM_007055.3(POLR3A):c.*1100G>T http://identifiers.org/clinvar/316165 ^@ NM_014080.4(DUOX2):c.2395C>T (p.Arg799Trp) http://identifiers.org/clinvar/300350 ^@ NM_000281.3(PCBD1):c.-46G>A http://identifiers.org/clinvar/300352 ^@ NM_000281.3(PCBD1):c.-96G>A http://identifiers.org/clinvar/301019 ^@ NM_007055.3(POLR3A):c.*883T>A http://identifiers.org/clinvar/316169 ^@ NM_014080.4(DUOX2):c.2291G>A (p.Arg764Gln) http://identifiers.org/clinvar/301021 ^@ NM_007055.3(POLR3A):c.*690C>T http://identifiers.org/clinvar/316174 ^@ NM_014080.4(DUOX2):c.1911C>T (p.Ser637=) http://identifiers.org/clinvar/316176 ^@ NM_014080.4(DUOX2):c.1528C>T (p.Arg510Trp) http://identifiers.org/clinvar/316178 ^@ NM_014080.4(DUOX2):c.953C>A (p.Pro318His) http://identifiers.org/clinvar/300353 ^@ NM_000281.3(PCBD1):c.-108T>C http://identifiers.org/clinvar/316183 ^@ NM_014080.4(DUOX2):c.558C>T (p.Gly186=) http://identifiers.org/clinvar/301029 ^@ NM_007055.3(POLR3A):c.*272G>A http://identifiers.org/clinvar/301030 ^@ NM_007055.3(POLR3A):c.*136C>T http://identifiers.org/clinvar/301032 ^@ NM_007055.3(POLR3A):c.*90G>A http://identifiers.org/clinvar/300354 ^@ NM_000281.3(PCBD1):c.-132C>A http://identifiers.org/clinvar/316187 ^@ NM_014080.4(DUOX2):c.498C>A (p.Ser166Arg) http://identifiers.org/clinvar/316192 ^@ NM_014080.4(DUOX2):c.314G>A (p.Gly105Glu) http://identifiers.org/clinvar/301035 ^@ NM_007055.3(POLR3A):c.3990C>T (p.Asp1330=) http://identifiers.org/clinvar/316194 ^@ NM_014080.4(DUOX2):c.202G>T (p.Gly68Cys) http://identifiers.org/clinvar/316199 ^@ NM_014080.4(DUOX2):c.-75C>T http://identifiers.org/clinvar/301040 ^@ NM_007055.3(POLR3A):c.3660G>A (p.Lys1220=) http://identifiers.org/clinvar/316203 ^@ NM_001482.2(GATM):c.*734_*735insCA http://identifiers.org/clinvar/316211 ^@ NM_001482.2(GATM):c.1159G>C (p.Gly387Arg) http://identifiers.org/clinvar/306718 ^@ NM_002465.3(MYBPC1):c.178+7G>A http://identifiers.org/clinvar/300367 ^@ NM_018344.5(SLC29A3):c.946T>G (p.Phe316Val) http://identifiers.org/clinvar/300375 ^@ NM_018344.5(SLC29A3):c.*174G>A http://identifiers.org/clinvar/300376 ^@ NM_018344.5(SLC29A3):c.*318C>T http://identifiers.org/clinvar/306722 ^@ NM_002465.3(MYBPC1):c.556+9G>A http://identifiers.org/clinvar/300383 ^@ NM_018344.5(SLC29A3):c.*657dupA http://identifiers.org/clinvar/300385 ^@ NM_018344.5(SLC29A3):c.*711C>T http://identifiers.org/clinvar/300387 ^@ NM_022124.5(CDH23):c.-346G>T http://identifiers.org/clinvar/300388 ^@ NM_022124.5(CDH23):c.-276G>A http://identifiers.org/clinvar/300391 ^@ NM_022124.5(CDH23):c.-176_-170delGAGCGGC http://identifiers.org/clinvar/300396 ^@ NM_022124.5(CDH23):c.-38G>C http://identifiers.org/clinvar/316217 ^@ NM_012388.3(BLOC1S6):c.-153G>A http://identifiers.org/clinvar/316220 ^@ NM_012388.3(BLOC1S6):c.-120C>T http://identifiers.org/clinvar/316221 ^@ NM_012388.3(BLOC1S6):c.-118C>T http://identifiers.org/clinvar/300394 ^@ NM_022124.5(CDH23):c.-35_-31dupAGGCG http://identifiers.org/clinvar/316224 ^@ NM_012388.3(BLOC1S6):c.82+10A>G http://identifiers.org/clinvar/300401 ^@ NM_022124.5(CDH23):c.446C>T (p.Thr149Met) http://identifiers.org/clinvar/300403 ^@ NM_022124.5(CDH23):c.836A>G (p.Asn279Ser) http://identifiers.org/clinvar/306727 ^@ NM_002465.3(MYBPC1):c.675G>A (p.Lys225=) http://identifiers.org/clinvar/300406 ^@ NM_022124.5(CDH23):c.1168T>C (p.Leu390=) http://identifiers.org/clinvar/301050 ^@ NM_007055.3(POLR3A):c.2997G>T (p.Val999=) http://identifiers.org/clinvar/300413 ^@ NM_022124.5(CDH23):c.2310C>T (p.Asp770=) http://identifiers.org/clinvar/300419 ^@ NM_022124.5(CDH23):c.2915C>T (p.Thr972Met) http://identifiers.org/clinvar/301058 ^@ NM_007055.3(POLR3A):c.2394T>C (p.Cys798=) http://identifiers.org/clinvar/306734 ^@ NM_002465.3(MYBPC1):c.1651C>T (p.Leu551=) http://identifiers.org/clinvar/301065 ^@ NM_007055.3(POLR3A):c.1771-4T>C http://identifiers.org/clinvar/301067 ^@ NM_007055.3(POLR3A):c.1771-6C>A http://identifiers.org/clinvar/306743 ^@ NM_002465.3(MYBPC1):c.2439C>T (p.Ile813=) http://identifiers.org/clinvar/301069 ^@ NM_007055.3(POLR3A):c.1683A>G (p.Arg561=) http://identifiers.org/clinvar/306744 ^@ NM_002465.3(MYBPC1):c.2508C>T (p.Leu836=) http://identifiers.org/clinvar/301072 ^@ NM_007055.3(POLR3A):c.1566G>T (p.Leu522=) http://identifiers.org/clinvar/300423 ^@ NM_022124.5(CDH23):c.3213G>A (p.Glu1071=) http://identifiers.org/clinvar/301084 ^@ NM_007055.3(POLR3A):c.163G>A (p.Val55Met) http://identifiers.org/clinvar/301087 ^@ NM_033022.3(RPS24):c.-142A>G http://identifiers.org/clinvar/301088 ^@ NM_033022.3(RPS24):c.-109A>G http://identifiers.org/clinvar/306746 ^@ NM_002465.3(MYBPC1):c.2579T>C (p.Val860Ala) http://identifiers.org/clinvar/316226 ^@ NM_012388.3(BLOC1S6):c.*165T>C http://identifiers.org/clinvar/300425 ^@ NM_022124.5(CDH23):c.3613G>T (p.Ala1205Ser) http://identifiers.org/clinvar/316231 ^@ NM_012388.3(BLOC1S6):c.*589T>G http://identifiers.org/clinvar/306749 ^@ NM_002465.3(MYBPC1):c.3402A>G (p.Thr1134=) http://identifiers.org/clinvar/306752 ^@ NM_002465.3(MYBPC1):c.*78G>A http://identifiers.org/clinvar/316238 ^@ NM_012388.3(BLOC1S6):c.*1706G>A http://identifiers.org/clinvar/316244 ^@ NM_012388.3(BLOC1S6):c.*2404C>T http://identifiers.org/clinvar/306754 ^@ NM_002465.3(MYBPC1):c.*246dupA http://identifiers.org/clinvar/300433 ^@ NM_022124.5(CDH23):c.4390G>A (p.Ala1464Thr) http://identifiers.org/clinvar/301090 ^@ NM_033022.3(RPS24):c.-36T>G http://identifiers.org/clinvar/301091 ^@ NM_033022.3(RPS24):c.-8T>G http://identifiers.org/clinvar/300434 ^@ NM_022124.5(CDH23):c.4451C>T (p.Pro1484Leu) http://identifiers.org/clinvar/300438 ^@ NM_022124.5(CDH23):c.4913A>C (p.His1638Pro) http://identifiers.org/clinvar/300442 ^@ NM_022124.5(CDH23):c.5257G>A (p.Glu1753Lys) http://identifiers.org/clinvar/300443 ^@ NM_022124.5(CDH23):c.5328C>A (p.Asn1776Lys) http://identifiers.org/clinvar/301093 ^@ NM_033022.3(RPS24):c.177A>G (p.Gly59=) http://identifiers.org/clinvar/316248 ^@ NM_012388.3(BLOC1S6):c.*2815A>C http://identifiers.org/clinvar/316249 ^@ NM_012388.3(BLOC1S6):c.*2834_*2837delACAA http://identifiers.org/clinvar/306756 ^@ NM_002465.3(MYBPC1):c.*277T>C http://identifiers.org/clinvar/306757 ^@ NM_002465.3(MYBPC1):c.*317C>A http://identifiers.org/clinvar/316247 ^@ NM_012388.3(BLOC1S6):c.*2834_*2837dupACAA http://identifiers.org/clinvar/300444 ^@ NM_022124.5(CDH23):c.5542G>A (p.Asp1848Asn) http://identifiers.org/clinvar/301096 ^@ NM_033022.3(RPS24):c.333G>A (p.Lys111=) http://identifiers.org/clinvar/301098 ^@ NM_033022.3(RPS24):c.*21C>T http://identifiers.org/clinvar/301153 ^@ NM_000429.2(MAT1A):c.*1599_*1600insTTCAGGCTGG http://identifiers.org/clinvar/301156 ^@ NM_000429.2(MAT1A):c.*1292G>C http://identifiers.org/clinvar/316255 ^@ NM_000338.2(SLC12A1):c.445G>A (p.Ala149Thr) http://identifiers.org/clinvar/316258 ^@ NM_000338.2(SLC12A1):c.1265C>T (p.Thr422Ile) http://identifiers.org/clinvar/300445 ^@ NM_022124.5(CDH23):c.5711C>T (p.Thr1904Met) http://identifiers.org/clinvar/300446 ^@ NM_022124.5(CDH23):c.5727T>C (p.Thr1909=) http://identifiers.org/clinvar/316260 ^@ NM_000338.2(SLC12A1):c.1855G>A (p.Val619Ile) http://identifiers.org/clinvar/300448 ^@ NM_022124.5(CDH23):c.5931T>C (p.Pro1977=) http://identifiers.org/clinvar/316263 ^@ NM_000338.2(SLC12A1):c.2098A>C (p.Ile700Leu) http://identifiers.org/clinvar/306760 ^@ NM_153694.4(SYCP3):c.*198G>A http://identifiers.org/clinvar/306762 ^@ NM_153694.4(SYCP3):c.666A>G (p.Gln222=) http://identifiers.org/clinvar/306763 ^@ NM_153694.4(SYCP3):c.454-13_454-9delTTTAT http://identifiers.org/clinvar/300451 ^@ NM_022124.5(CDH23):c.6421A>G (p.Arg2141Gly) http://identifiers.org/clinvar/300460 ^@ NM_022124.5(CDH23):c.8009G>A (p.Ser2670Asn) http://identifiers.org/clinvar/300468 ^@ NM_022124.5(CDH23):c.8931C>T (p.His2977=) http://identifiers.org/clinvar/300471 ^@ NM_022124.5(CDH23):c.9108G>A (p.Glu3036=) http://identifiers.org/clinvar/300476 ^@ NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys) http://identifiers.org/clinvar/300485 ^@ NM_022124.5(CDH23):c.*104G>C http://identifiers.org/clinvar/316269 ^@ NM_000338.2(SLC12A1):c.2296-6G>T http://identifiers.org/clinvar/301163 ^@ NM_000429.2(MAT1A):c.*1021C>A http://identifiers.org/clinvar/316289 ^@ NM_000338.2(SLC12A1):c.*158C>T http://identifiers.org/clinvar/301166 ^@ NM_000429.2(MAT1A):c.*863G>A http://identifiers.org/clinvar/301167 ^@ NM_000429.2(MAT1A):c.*862C>T http://identifiers.org/clinvar/306765 ^@ NM_153694.4(SYCP3):c.-60C>T http://identifiers.org/clinvar/316291 ^@ NM_000338.2(SLC12A1):c.*300T>C http://identifiers.org/clinvar/306768 ^@ NM_024312.4(GNPTAB):c.*1464A>G http://identifiers.org/clinvar/306769 ^@ NM_024312.4(GNPTAB):c.*1457A>G http://identifiers.org/clinvar/306771 ^@ NM_024312.4(GNPTAB):c.*1240T>C http://identifiers.org/clinvar/300487 ^@ NM_022124.5(CDH23):c.*141G>A http://identifiers.org/clinvar/300488 ^@ NM_022124.5(CDH23):c.*204A>G http://identifiers.org/clinvar/300497 ^@ NM_002778.3(PSAP):c.*935A>G http://identifiers.org/clinvar/300506 ^@ NM_002778.3(PSAP):c.*9A>G http://identifiers.org/clinvar/300509 ^@ NM_002778.3(PSAP):c.1452G>A (p.Ser484=) http://identifiers.org/clinvar/316297 ^@ NM_000138.4(FBN1):c.*2638T>C http://identifiers.org/clinvar/316306 ^@ NM_000138.4(FBN1):c.*2395G>A http://identifiers.org/clinvar/300512 ^@ NM_002778.3(PSAP):c.1261C>T (p.Arg421Cys) http://identifiers.org/clinvar/316311 ^@ NM_000138.4(FBN1):c.*2153A>G http://identifiers.org/clinvar/316312 ^@ NM_000138.4(FBN1):c.*2114T>A http://identifiers.org/clinvar/301168 ^@ NM_000429.2(MAT1A):c.*786A>T http://identifiers.org/clinvar/316315 ^@ NM_000138.4(FBN1):c.*2040T>C http://identifiers.org/clinvar/316316 ^@ NM_000138.4(FBN1):c.*2024A>G http://identifiers.org/clinvar/300513 ^@ NM_002778.3(PSAP):c.1258G>A (p.Asp420Asn) http://identifiers.org/clinvar/316318 ^@ NM_000138.4(FBN1):c.*1959G>A http://identifiers.org/clinvar/316319 ^@ NM_000138.4(FBN1):c.*1950dupT http://identifiers.org/clinvar/301172 ^@ NM_000429.2(MAT1A):c.*727T>C http://identifiers.org/clinvar/316320 ^@ NM_000138.4(FBN1):c.*1949T>C http://identifiers.org/clinvar/316322 ^@ NM_000138.4(FBN1):c.*1733A>G http://identifiers.org/clinvar/306775 ^@ NM_024312.4(GNPTAB):c.*1109G>T http://identifiers.org/clinvar/306780 ^@ NM_024312.4(GNPTAB):c.*814T>G http://identifiers.org/clinvar/306781 ^@ NM_024312.4(GNPTAB):c.*739T>C http://identifiers.org/clinvar/306782 ^@ NM_024312.4(GNPTAB):c.*646G>T http://identifiers.org/clinvar/301173 ^@ NM_000429.2(MAT1A):c.*668G>A http://identifiers.org/clinvar/316328 ^@ NM_000138.4(FBN1):c.*1580G>A http://identifiers.org/clinvar/301186 ^@ NM_000429.2(MAT1A):c.916G>C (p.Val306Leu) http://identifiers.org/clinvar/301189 ^@ NM_000429.2(MAT1A):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/316342 ^@ NM_000138.4(FBN1):c.*1084T>C http://identifiers.org/clinvar/301190 ^@ NM_000429.2(MAT1A):c.241C>T (p.Arg81Trp) http://identifiers.org/clinvar/306784 ^@ NM_024312.4(GNPTAB):c.*558delA http://identifiers.org/clinvar/301191 ^@ NM_000429.2(MAT1A):c.227T>C (p.Met76Thr) http://identifiers.org/clinvar/306785 ^@ NM_024312.4(GNPTAB):c.*436G>A http://identifiers.org/clinvar/306786 ^@ NM_024312.4(GNPTAB):c.*419dupT http://identifiers.org/clinvar/306792 ^@ NM_024312.4(GNPTAB):c.*43C>T http://identifiers.org/clinvar/301196 ^@ NM_000429.2(MAT1A):c.-66delA http://identifiers.org/clinvar/316347 ^@ NM_000138.4(FBN1):c.*948G>T http://identifiers.org/clinvar/300522 ^@ NM_002778.3(PSAP):c.714C>G (p.Ala238=) http://identifiers.org/clinvar/316348 ^@ NM_000138.4(FBN1):c.*938G>T http://identifiers.org/clinvar/306793 ^@ NM_024312.4(GNPTAB):c.3710G>A (p.Arg1237Gln) http://identifiers.org/clinvar/301203 ^@ NM_000429.2(MAT1A):c.-73A>G http://identifiers.org/clinvar/301198 ^@ NM_000429.2(MAT1A):c.-75_-73dupGAA http://identifiers.org/clinvar/300525 ^@ NM_002778.3(PSAP):c.557G>A (p.Arg186His) http://identifiers.org/clinvar/316351 ^@ NM_000138.4(FBN1):c.*730G>T http://identifiers.org/clinvar/316358 ^@ NM_000138.4(FBN1):c.*202_*203delAT http://identifiers.org/clinvar/316364 ^@ NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln) http://identifiers.org/clinvar/301109 ^@ NM_001002295.1(GATA3):c.-251G>A http://identifiers.org/clinvar/306795 ^@ NM_024312.4(GNPTAB):c.3516T>C (p.Tyr1172=) http://identifiers.org/clinvar/316368 ^@ NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) http://identifiers.org/clinvar/316370 ^@ NM_000138.4(FBN1):c.5788+4C>A http://identifiers.org/clinvar/306797 ^@ NM_024312.4(GNPTAB):c.3306C>G (p.His1102Gln) http://identifiers.org/clinvar/300528 ^@ NM_002778.3(PSAP):c.250-12G>A http://identifiers.org/clinvar/300533 ^@ NM_002778.3(PSAP):c.167C>G (p.Pro56Arg) http://identifiers.org/clinvar/300534 ^@ NM_002778.3(PSAP):c.112A>T (p.Thr38Ser) http://identifiers.org/clinvar/300537 ^@ NM_002778.3(PSAP):c.78C>T (p.Thr26=) http://identifiers.org/clinvar/300539 ^@ NM_002778.3(PSAP):c.40+12G>A http://identifiers.org/clinvar/300552 ^@ NM_004273.4(CHST3):c.-131G>A http://identifiers.org/clinvar/316371 ^@ NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) http://identifiers.org/clinvar/316375 ^@ NM_000138.4(FBN1):c.3896C>T (p.Thr1299Met) http://identifiers.org/clinvar/300555 ^@ NM_004273.4(CHST3):c.7A>C (p.Lys3Gln) http://identifiers.org/clinvar/300556 ^@ NM_004273.4(CHST3):c.244G>A (p.Glu82Lys) http://identifiers.org/clinvar/300558 ^@ NM_004273.4(CHST3):c.306C>T (p.Gly102=) http://identifiers.org/clinvar/300561 ^@ NM_004273.4(CHST3):c.543C>T (p.Ala181=) http://identifiers.org/clinvar/316376 ^@ NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) http://identifiers.org/clinvar/316377 ^@ NM_000138.4(FBN1):c.3570C>T (p.Pro1190=) http://identifiers.org/clinvar/300563 ^@ NM_004273.4(CHST3):c.828C>T (p.Arg276=) http://identifiers.org/clinvar/300564 ^@ NM_004273.4(CHST3):c.886G>C (p.Val296Leu) http://identifiers.org/clinvar/301111 ^@ NM_001002295.1(GATA3):c.-95G>T http://identifiers.org/clinvar/316378 ^@ NM_000138.4(FBN1):c.3337+11G>A http://identifiers.org/clinvar/316389 ^@ NM_000138.4(FBN1):c.723G>A (p.Thr241=) http://identifiers.org/clinvar/316390 ^@ NM_000138.4(FBN1):c.589G>C (p.Gly197Arg) http://identifiers.org/clinvar/301113 ^@ NM_001002295.1(GATA3):c.-60C>T http://identifiers.org/clinvar/316391 ^@ NM_000138.4(FBN1):c.538+4A>G http://identifiers.org/clinvar/301114 ^@ NM_001002295.1(GATA3):c.-58C>T http://identifiers.org/clinvar/301117 ^@ NM_001002295.1(GATA3):c.57C>T (p.Leu19=) http://identifiers.org/clinvar/301119 ^@ NM_001002295.1(GATA3):c.216G>T (p.Val72=) http://identifiers.org/clinvar/301120 ^@ NM_001002295.1(GATA3):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/300566 ^@ NM_004273.4(CHST3):c.1197C>T (p.Asp399=) http://identifiers.org/clinvar/300567 ^@ NM_004273.4(CHST3):c.1251G>C (p.Thr417=) http://identifiers.org/clinvar/300571 ^@ NM_004273.4(CHST3):c.*255C>T http://identifiers.org/clinvar/300580 ^@ NM_004273.4(CHST3):c.*544C>T http://identifiers.org/clinvar/316392 ^@ NM_000138.4(FBN1):c.396T>C (p.Asp132=) http://identifiers.org/clinvar/300593 ^@ NM_004273.4(CHST3):c.*1053A>T http://identifiers.org/clinvar/300598 ^@ NM_004273.4(CHST3):c.*1101T>G http://identifiers.org/clinvar/300605 ^@ NM_004273.4(CHST3):c.*1314G>A http://identifiers.org/clinvar/306799 ^@ NM_024312.4(GNPTAB):c.3216A>G (p.Pro1072=) http://identifiers.org/clinvar/316396 ^@ NM_000138.4(FBN1):c.-132A>C http://identifiers.org/clinvar/316397 ^@ NM_000138.4(FBN1):c.-136G>C http://identifiers.org/clinvar/316420 ^@ NM_014985.3(CEP152):c.2804A>G (p.Gln935Arg) http://identifiers.org/clinvar/316425 ^@ NM_014985.3(CEP152):c.1185C>T (p.Cys395=) http://identifiers.org/clinvar/316428 ^@ NM_014985.3(CEP152):c.930A>T (p.Ala310=) http://identifiers.org/clinvar/300607 ^@ NM_004273.4(CHST3):c.*1370G>A http://identifiers.org/clinvar/300616 ^@ NM_004273.4(CHST3):c.*1621C>G http://identifiers.org/clinvar/316433 ^@ NM_014985.3(CEP152):c.4T>A (p.Ser2Thr) http://identifiers.org/clinvar/316434 ^@ NM_014985.3(CEP152):c.-10C>G http://identifiers.org/clinvar/301122 ^@ NM_001002295.1(GATA3):c.573C>T (p.Pro191=) http://identifiers.org/clinvar/301130 ^@ NM_001002295.1(GATA3):c.*26C>G http://identifiers.org/clinvar/301131 ^@ NM_001002295.1(GATA3):c.*93C>T http://identifiers.org/clinvar/300618 ^@ NM_004273.4(CHST3):c.*1698C>G http://identifiers.org/clinvar/316440 ^@ NM_031226.2(CYP19A1):c.*2645dupC http://identifiers.org/clinvar/306800 ^@ NM_024312.4(GNPTAB):c.3197C>T (p.Thr1066Met) http://identifiers.org/clinvar/306806 ^@ NM_024312.4(GNPTAB):c.2481C>T (p.Gly827=) http://identifiers.org/clinvar/301133 ^@ NM_001002295.1(GATA3):c.*265dupA http://identifiers.org/clinvar/301139 ^@ NM_001002295.1(GATA3):c.*575A>C http://identifiers.org/clinvar/316444 ^@ NM_031226.2(CYP19A1):c.*2258_*2259insA http://identifiers.org/clinvar/301146 ^@ NM_001002295.1(GATA3):c.*857A>T http://identifiers.org/clinvar/316447 ^@ NM_031226.2(CYP19A1):c.*2170G>A http://identifiers.org/clinvar/300620 ^@ NM_004273.4(CHST3):c.*1844C>T http://identifiers.org/clinvar/300627 ^@ NM_004273.4(CHST3):c.*2163A>G http://identifiers.org/clinvar/316451 ^@ NM_031226.2(CYP19A1):c.*1888A>G http://identifiers.org/clinvar/316452 ^@ NM_031226.2(CYP19A1):c.*1877T>G http://identifiers.org/clinvar/316453 ^@ NM_031226.2(CYP19A1):c.*1608C>T http://identifiers.org/clinvar/306807 ^@ NM_024312.4(GNPTAB):c.2225A>G (p.Asn742Ser) http://identifiers.org/clinvar/306809 ^@ NM_024312.4(GNPTAB):c.1626A>G (p.Glu542=) http://identifiers.org/clinvar/301147 ^@ NM_001002295.1(GATA3):c.*895T>G http://identifiers.org/clinvar/316461 ^@ NM_031226.2(CYP19A1):c.*483G>C http://identifiers.org/clinvar/301206 ^@ NM_033100.3(CDHR1):c.-64G>A http://identifiers.org/clinvar/306810 ^@ NM_024312.4(GNPTAB):c.1269C>T (p.His423=) http://identifiers.org/clinvar/306821 ^@ NM_024312.4(GNPTAB):c.117+15C>T http://identifiers.org/clinvar/306825 ^@ NM_024312.4(GNPTAB):c.-145G>A http://identifiers.org/clinvar/306843 ^@ NM_000618.4(IGF1):c.*5270T>G http://identifiers.org/clinvar/300631 ^@ NM_004273.4(CHST3):c.*2391C>T http://identifiers.org/clinvar/301215 ^@ NM_033100.3(CDHR1):c.408C>T (p.Ile136=) http://identifiers.org/clinvar/306851 ^@ NM_000618.4(IGF1):c.*4536T>C http://identifiers.org/clinvar/316462 ^@ NM_031226.2(CYP19A1):c.*460G>C http://identifiers.org/clinvar/300635 ^@ NM_004273.4(CHST3):c.*2660C>T http://identifiers.org/clinvar/316465 ^@ NM_031226.2(CYP19A1):c.*191C>A http://identifiers.org/clinvar/316471 ^@ NM_031226.2(CYP19A1):c.1378G>A (p.Val460Met) http://identifiers.org/clinvar/301216 ^@ NM_033100.3(CDHR1):c.439-12T>C http://identifiers.org/clinvar/316473 ^@ NM_031226.2(CYP19A1):c.953T>C (p.Met318Thr) http://identifiers.org/clinvar/316478 ^@ NM_031226.2(CYP19A1):c.186C>T (p.His62=) http://identifiers.org/clinvar/301222 ^@ NM_033100.3(CDHR1):c.700G>A (p.Val234Ile) http://identifiers.org/clinvar/316479 ^@ NM_031226.2(CYP19A1):c.115T>C (p.Trp39Arg) http://identifiers.org/clinvar/316481 ^@ NM_031226.2(CYP19A1):c.-59C>A http://identifiers.org/clinvar/316482 ^@ NM_031226.2(CYP19A1):c.-94_-93delAG http://identifiers.org/clinvar/306852 ^@ NM_000618.4(IGF1):c.*4525C>T http://identifiers.org/clinvar/316483 ^@ NM_031226.2(CYP19A1):c.-146C>T http://identifiers.org/clinvar/316488 ^@ NM_182758.3(WDR72):c.*3689A>G http://identifiers.org/clinvar/301228 ^@ NM_033100.3(CDHR1):c.869A>G (p.Asp290Gly) http://identifiers.org/clinvar/316489 ^@ NM_182758.3(WDR72):c.*3650A>G http://identifiers.org/clinvar/316490 ^@ NM_182758.3(WDR72):c.*3594A>C http://identifiers.org/clinvar/301231 ^@ NM_033100.3(CDHR1):c.983C>T (p.Ala328Val) http://identifiers.org/clinvar/316491 ^@ NM_182758.3(WDR72):c.*3575T>C http://identifiers.org/clinvar/316492 ^@ NM_182758.3(WDR72):c.*3514G>T http://identifiers.org/clinvar/316494 ^@ NM_182758.3(WDR72):c.*3470C>T http://identifiers.org/clinvar/301236 ^@ NM_033100.3(CDHR1):c.1206C>T (p.Pro402=) http://identifiers.org/clinvar/301240 ^@ NM_033100.3(CDHR1):c.1461G>A (p.Gly487=) http://identifiers.org/clinvar/306855 ^@ NM_000618.4(IGF1):c.*4413T>G http://identifiers.org/clinvar/306861 ^@ NM_000618.4(IGF1):c.*4008C>T http://identifiers.org/clinvar/301243 ^@ NM_033100.3(CDHR1):c.1471G>A (p.Val491Met) http://identifiers.org/clinvar/316495 ^@ NM_182758.3(WDR72):c.*3433G>A http://identifiers.org/clinvar/306864 ^@ NM_000618.4(IGF1):c.*3915A>G http://identifiers.org/clinvar/300637 ^@ NM_004273.4(CHST3):c.*2826G>A http://identifiers.org/clinvar/301246 ^@ NM_033100.3(CDHR1):c.1730G>A (p.Gly577Glu) http://identifiers.org/clinvar/316505 ^@ NM_182758.3(WDR72):c.*2739_*2742dupCTTT http://identifiers.org/clinvar/300640 ^@ NM_004273.4(CHST3):c.*3039C>T http://identifiers.org/clinvar/300645 ^@ NM_004273.4(CHST3):c.*3245G>A http://identifiers.org/clinvar/306865 ^@ NM_000618.4(IGF1):c.*3716G>T http://identifiers.org/clinvar/300650 ^@ NM_004273.4(CHST3):c.*3555G>A http://identifiers.org/clinvar/316508 ^@ NM_182758.3(WDR72):c.*2685_*2690dupATATAT http://identifiers.org/clinvar/316509 ^@ NM_182758.3(WDR72):c.*2683_*2690dupATATATAT http://identifiers.org/clinvar/306869 ^@ NM_000618.4(IGF1):c.*3398_*3399dupCA http://identifiers.org/clinvar/316511 ^@ NM_182758.3(WDR72):c.*2675A>G http://identifiers.org/clinvar/300654 ^@ NM_004273.4(CHST3):c.*3703_*3704delAG http://identifiers.org/clinvar/300658 ^@ NM_004273.4(CHST3):c.*3890C>T http://identifiers.org/clinvar/316513 ^@ NM_182758.3(WDR72):c.*2673G>A http://identifiers.org/clinvar/300660 ^@ NM_004273.4(CHST3):c.*3932G>T http://identifiers.org/clinvar/300664 ^@ NM_004273.4(CHST3):c.*4107T>C http://identifiers.org/clinvar/300671 ^@ NM_004273.4(CHST3):c.*4432T>A http://identifiers.org/clinvar/300674 ^@ NM_004273.4(CHST3):c.*4498A>G http://identifiers.org/clinvar/300675 ^@ NM_004273.4(CHST3):c.*4533C>T http://identifiers.org/clinvar/316517 ^@ NM_182758.3(WDR72):c.*2657_*2658insTACACATATATATGTGTGTATATATATACACACATATATATA http://identifiers.org/clinvar/300679 ^@ NM_004273.4(CHST3):c.*4770G>A http://identifiers.org/clinvar/306872 ^@ NM_000618.4(IGF1):c.*3396_*3399delCACA http://identifiers.org/clinvar/316515 ^@ NM_182758.3(WDR72):c.*2656_*2657dupTA http://identifiers.org/clinvar/306874 ^@ NM_000618.4(IGF1):c.*3366C>G http://identifiers.org/clinvar/300681 ^@ NM_004273.4(CHST3):c.*4820C>T http://identifiers.org/clinvar/300686 ^@ NM_016065.3(MRPS16):c.*1860G>T http://identifiers.org/clinvar/316516 ^@ NM_182758.3(WDR72):c.*2644C>T http://identifiers.org/clinvar/306879 ^@ NM_000618.4(IGF1):c.*2827C>T http://identifiers.org/clinvar/316519 ^@ NM_182758.3(WDR72):c.*2622T>C http://identifiers.org/clinvar/306881 ^@ NM_000618.4(IGF1):c.*2652T>C http://identifiers.org/clinvar/306884 ^@ NM_000618.4(IGF1):c.*2376delG http://identifiers.org/clinvar/306886 ^@ NM_000618.4(IGF1):c.*2375dupA http://identifiers.org/clinvar/301247 ^@ NM_033100.3(CDHR1):c.1849G>A (p.Ala617Thr) http://identifiers.org/clinvar/316525 ^@ NM_182758.3(WDR72):c.*2603_*2612dupGTGTGTGTGT http://identifiers.org/clinvar/316531 ^@ NM_182758.3(WDR72):c.*2592_*2593insTTGT http://identifiers.org/clinvar/306889 ^@ NM_000618.4(IGF1):c.*2266T>G http://identifiers.org/clinvar/306903 ^@ NM_000618.4(IGF1):c.*265T>A http://identifiers.org/clinvar/306905 ^@ NM_000618.4(IGF1):c.*263T>A http://identifiers.org/clinvar/300690 ^@ NM_016065.3(MRPS16):c.*1503A>G http://identifiers.org/clinvar/316532 ^@ NM_182758.3(WDR72):c.*2592_*2593insTTTTGT http://identifiers.org/clinvar/300694 ^@ NM_016065.3(MRPS16):c.*1291_*1293delCTT http://identifiers.org/clinvar/316530 ^@ NM_182758.3(WDR72):c.*2591_*2592dupTT http://identifiers.org/clinvar/300699 ^@ NM_016065.3(MRPS16):c.*854_*856delCCT http://identifiers.org/clinvar/306906 ^@ NM_000618.4(IGF1):c.*261A>T http://identifiers.org/clinvar/316537 ^@ NM_182758.3(WDR72):c.*2497G>A http://identifiers.org/clinvar/316541 ^@ NM_182758.3(WDR72):c.*1940A>T http://identifiers.org/clinvar/300702 ^@ NM_016065.3(MRPS16):c.*740G>A http://identifiers.org/clinvar/316545 ^@ NM_182758.3(WDR72):c.*1764T>G http://identifiers.org/clinvar/316547 ^@ NM_182758.3(WDR72):c.*1734T>C http://identifiers.org/clinvar/306907 ^@ NM_000618.4(IGF1):c.*105T>C http://identifiers.org/clinvar/316552 ^@ NM_182758.3(WDR72):c.*1527A>G http://identifiers.org/clinvar/316555 ^@ NM_182758.3(WDR72):c.*1470T>C http://identifiers.org/clinvar/316561 ^@ NM_182758.3(WDR72):c.*1145T>G http://identifiers.org/clinvar/301254 ^@ NM_033100.3(CDHR1):c.2041-15G>A http://identifiers.org/clinvar/301258 ^@ NM_033100.3(CDHR1):c.2367G>A (p.Pro789=) http://identifiers.org/clinvar/306909 ^@ NM_000277.1(PAH):c.*772_*775delGTAA http://identifiers.org/clinvar/316569 ^@ NM_182758.3(WDR72):c.*572C>G http://identifiers.org/clinvar/306917 ^@ NM_000277.1(PAH):c.-223G>A http://identifiers.org/clinvar/300704 ^@ NM_016065.3(MRPS16):c.*633dupT http://identifiers.org/clinvar/306920 ^@ NM_018082.5(POLR3B):c.-186C>A http://identifiers.org/clinvar/316576 ^@ NM_182758.3(WDR72):c.3254-7T>G http://identifiers.org/clinvar/316579 ^@ NM_182758.3(WDR72):c.3149-10_3149-9dupCT http://identifiers.org/clinvar/316580 ^@ NM_182758.3(WDR72):c.3149-12_3149-9dupCTCT http://identifiers.org/clinvar/300705 ^@ NM_016065.3(MRPS16):c.*600A>G http://identifiers.org/clinvar/300714 ^@ NM_016065.3(MRPS16):c.*121G>A http://identifiers.org/clinvar/301263 ^@ NM_033100.3(CDHR1):c.*167A>T http://identifiers.org/clinvar/316584 ^@ NM_182758.3(WDR72):c.2724A>G (p.Leu908=) http://identifiers.org/clinvar/301264 ^@ NM_033100.3(CDHR1):c.*173C>A http://identifiers.org/clinvar/301267 ^@ NM_033100.3(CDHR1):c.*269C>T http://identifiers.org/clinvar/316587 ^@ NM_182758.3(WDR72):c.2598A>G (p.Lys866=) http://identifiers.org/clinvar/316590 ^@ NM_182758.3(WDR72):c.1918G>C (p.Gly640Arg) http://identifiers.org/clinvar/306925 ^@ NM_018082.5(POLR3B):c.-37G>T http://identifiers.org/clinvar/301269 ^@ NM_033100.3(CDHR1):c.*335dupA http://identifiers.org/clinvar/306933 ^@ NM_018082.5(POLR3B):c.1113T>C (p.Leu371=) http://identifiers.org/clinvar/301271 ^@ NM_033100.3(CDHR1):c.*394G>A http://identifiers.org/clinvar/300715 ^@ NM_016065.3(MRPS16):c.*65G>A http://identifiers.org/clinvar/300720 ^@ NM_016065.3(MRPS16):c.96C>T (p.Tyr32=) http://identifiers.org/clinvar/306934 ^@ NM_018082.5(POLR3B):c.1401T>A (p.Gly467=) http://identifiers.org/clinvar/306937 ^@ NM_018082.5(POLR3B):c.1776A>T (p.Leu592=) http://identifiers.org/clinvar/300722 ^@ NM_016065.3(MRPS16):c.59G>A (p.Arg20His) http://identifiers.org/clinvar/301282 ^@ NM_033100.3(CDHR1):c.*914C>A http://identifiers.org/clinvar/300723 ^@ NM_016065.3(MRPS16):c.34T>C (p.Tyr12His) http://identifiers.org/clinvar/316592 ^@ NM_182758.3(WDR72):c.1659C>T (p.Ala553=) http://identifiers.org/clinvar/316593 ^@ NM_182758.3(WDR72):c.1574G>A (p.Arg525Lys) http://identifiers.org/clinvar/300731 ^@ NM_016065.3(MRPS16):c.-147C>G http://identifiers.org/clinvar/300733 ^@ NM_002658.4(PLAU):c.-41G>A http://identifiers.org/clinvar/306940 ^@ NM_018082.5(POLR3B):c.1958A>T (p.Asp653Val) http://identifiers.org/clinvar/316598 ^@ NM_182758.3(WDR72):c.1195A>C (p.Lys399Gln) http://identifiers.org/clinvar/306942 ^@ NM_018082.5(POLR3B):c.2136A>G (p.Leu712=) http://identifiers.org/clinvar/300747 ^@ NM_002658.4(PLAU):c.316G>C (p.Ala106Pro) http://identifiers.org/clinvar/300756 ^@ NM_002658.4(PLAU):c.822C>T (p.Asn274=) http://identifiers.org/clinvar/306943 ^@ NM_018082.5(POLR3B):c.2334G>A (p.Thr778=) http://identifiers.org/clinvar/306944 ^@ NM_018082.5(POLR3B):c.2449C>T (p.Pro817Ser) http://identifiers.org/clinvar/301284 ^@ NM_033100.3(CDHR1):c.*935C>T http://identifiers.org/clinvar/316599 ^@ NM_182758.3(WDR72):c.1111G>T (p.Val371Leu) http://identifiers.org/clinvar/301287 ^@ NM_033100.3(CDHR1):c.*1055C>T http://identifiers.org/clinvar/301289 ^@ NM_033100.3(CDHR1):c.*1174G>A http://identifiers.org/clinvar/301291 ^@ NM_033100.3(CDHR1):c.*1260C>T http://identifiers.org/clinvar/306945 ^@ NM_018082.5(POLR3B):c.2670T>A (p.Arg890=) http://identifiers.org/clinvar/316603 ^@ NM_182758.3(WDR72):c.408C>T (p.Val136=) http://identifiers.org/clinvar/306950 ^@ NM_018082.5(POLR3B):c.3105C>T (p.Pro1035=) http://identifiers.org/clinvar/300764 ^@ NM_002658.4(PLAU):c.*60A>C http://identifiers.org/clinvar/316607 ^@ NM_004580.4(RAB27A):c.*2349A>G http://identifiers.org/clinvar/316608 ^@ NM_004580.4(RAB27A):c.*2334C>A http://identifiers.org/clinvar/306953 ^@ NM_018082.5(POLR3B):c.3390G>C (p.Lys1130Asn) http://identifiers.org/clinvar/316609 ^@ NM_004580.4(RAB27A):c.*2241_*2247delAAAATAA http://identifiers.org/clinvar/301293 ^@ NM_033100.3(CDHR1):c.*1383dupC http://identifiers.org/clinvar/300765 ^@ NM_002658.4(PLAU):c.*141C>T http://identifiers.org/clinvar/316615 ^@ NM_004580.4(RAB27A):c.*1915_*1920delAAAAAAinsTAAATAAAT http://identifiers.org/clinvar/301294 ^@ NM_033100.3(CDHR1):c.*1467T>A http://identifiers.org/clinvar/300767 ^@ NM_002658.4(PLAU):c.*266T>C http://identifiers.org/clinvar/301296 ^@ NM_033100.3(CDHR1):c.*1534A>G http://identifiers.org/clinvar/316618 ^@ NM_004580.4(RAB27A):c.*1742A>G http://identifiers.org/clinvar/316636 ^@ NM_004580.4(RAB27A):c.*852C>T http://identifiers.org/clinvar/301300 ^@ NM_033100.3(CDHR1):c.*1914C>G http://identifiers.org/clinvar/301303 ^@ NM_033100.3(CDHR1):c.*2019A>G http://identifiers.org/clinvar/306956 ^@ NM_018082.5(POLR3B):c.*372A>G http://identifiers.org/clinvar/316637 ^@ NM_004580.4(RAB27A):c.*842G>A http://identifiers.org/clinvar/306958 ^@ NM_018082.5(POLR3B):c.*492A>T http://identifiers.org/clinvar/316640 ^@ NM_004580.4(RAB27A):c.*723C>T http://identifiers.org/clinvar/316645 ^@ NM_004580.4(RAB27A):c.*162G>C http://identifiers.org/clinvar/316648 ^@ NM_004580.4(RAB27A):c.343+3_343+6delAAGT http://identifiers.org/clinvar/300771 ^@ NM_002658.4(PLAU):c.*444T>A http://identifiers.org/clinvar/300773 ^@ NM_002658.4(PLAU):c.*631C>T http://identifiers.org/clinvar/306960 ^@ NM_018082.5(POLR3B):c.*582C>G http://identifiers.org/clinvar/316660 ^@ NM_000236.2(LIPC):c.465G>T (p.Val155=) http://identifiers.org/clinvar/306961 ^@ NM_018082.5(POLR3B):c.*584A>G http://identifiers.org/clinvar/300775 ^@ NM_002658.4(PLAU):c.*753C>T http://identifiers.org/clinvar/300782 ^@ NM_014000.2(VCL):c.378C>A (p.Phe126Leu) http://identifiers.org/clinvar/301311 ^@ NM_033100.3(CDHR1):c.*2577G>C http://identifiers.org/clinvar/300783 ^@ NM_014000.2(VCL):c.592G>A (p.Val198Met) http://identifiers.org/clinvar/316666 ^@ NM_000236.2(LIPC):c.672C>G (p.Thr224=) http://identifiers.org/clinvar/301324 ^@ NM_001012720.1(RGR):c.*99dupA http://identifiers.org/clinvar/301325 ^@ NM_001012720.1(RGR):c.*200C>T http://identifiers.org/clinvar/300788 ^@ NM_014000.2(VCL):c.1379G>A (p.Arg460Gln) http://identifiers.org/clinvar/316667 ^@ NM_000236.2(LIPC):c.739G>A (p.Gly247Arg) http://identifiers.org/clinvar/300789 ^@ NM_014000.2(VCL):c.1543+8C>G http://identifiers.org/clinvar/316673 ^@ NM_000236.2(LIPC):c.1068C>A (p.Phe356Leu) http://identifiers.org/clinvar/301326 ^@ NM_001012720.1(RGR):c.*220C>G http://identifiers.org/clinvar/301328 ^@ NM_001012720.1(RGR):c.*484T>C http://identifiers.org/clinvar/306965 ^@ NM_080911.2(UNG):c.6C>A (p.Ile2=) http://identifiers.org/clinvar/316678 ^@ NM_000236.2(LIPC):c.1233C>T (p.Gly411=) http://identifiers.org/clinvar/306967 ^@ NM_080911.2(UNG):c.100G>A (p.Ala34Thr) http://identifiers.org/clinvar/301330 ^@ NM_001080116.1(LDB3):c.-81G>A http://identifiers.org/clinvar/316679 ^@ NM_000236.2(LIPC):c.1341C>T (p.Gly447=) http://identifiers.org/clinvar/301337 ^@ NM_001080116.1(LDB3):c.*154G>A http://identifiers.org/clinvar/316682 ^@ NM_001018005.1(TPM1):c.-186G>A http://identifiers.org/clinvar/306972 ^@ NM_080911.2(UNG):c.528G>A (p.Pro176=) http://identifiers.org/clinvar/306976 ^@ NM_080911.2(UNG):c.660C>T (p.Ala220=) http://identifiers.org/clinvar/301345 ^@ NM_004329.2(BMPR1A):c.-473G>A http://identifiers.org/clinvar/306981 ^@ NM_080911.2(UNG):c.*159G>A http://identifiers.org/clinvar/301348 ^@ NM_004329.2(BMPR1A):c.-140A>G http://identifiers.org/clinvar/300791 ^@ NM_014000.2(VCL):c.1918C>T (p.Leu640Phe) http://identifiers.org/clinvar/301354 ^@ NM_004329.2(BMPR1A):c.*45_*47delTTT http://identifiers.org/clinvar/316699 ^@ NM_000942.4(PPIB):c.*190T>G http://identifiers.org/clinvar/316700 ^@ NM_000942.4(PPIB):c.*12A>G http://identifiers.org/clinvar/301356 ^@ NM_004329.2(BMPR1A):c.*67T>G http://identifiers.org/clinvar/301360 ^@ NM_004329.2(BMPR1A):c.*487A>G http://identifiers.org/clinvar/306986 ^@ NM_080911.2(UNG):c.*522A>G http://identifiers.org/clinvar/316704 ^@ NM_000942.4(PPIB):c.279C>T (p.Phe93=) http://identifiers.org/clinvar/306988 ^@ NM_080911.2(UNG):c.*545A>G http://identifiers.org/clinvar/316705 ^@ NM_000942.4(PPIB):c.58G>T (p.Gly20Trp) http://identifiers.org/clinvar/316713 ^@ NM_000942.4(PPIB):c.-139C>T http://identifiers.org/clinvar/301361 ^@ NM_004329.2(BMPR1A):c.*542G>T http://identifiers.org/clinvar/300792 ^@ NM_014000.2(VCL):c.1998G>T (p.Lys666Asn) http://identifiers.org/clinvar/316715 ^@ NM_016630.6(SPG21):c.*257A= http://identifiers.org/clinvar/301364 ^@ NM_004329.2(BMPR1A):c.*764T>C http://identifiers.org/clinvar/306992 ^@ NM_080911.2(UNG):c.*708T>C http://identifiers.org/clinvar/306997 ^@ NM_080911.2(UNG):c.*880A>T http://identifiers.org/clinvar/301365 ^@ NM_004329.2(BMPR1A):c.*886C>T http://identifiers.org/clinvar/316717 ^@ NM_016630.6(SPG21):c.*47T>C http://identifiers.org/clinvar/316727 ^@ NM_016630.6(SPG21):c.-117C>G http://identifiers.org/clinvar/316729 ^@ NM_016630.6(SPG21):c.-213C>T http://identifiers.org/clinvar/307011 ^@ NM_052845.3(MMAB):c.*2679G>C http://identifiers.org/clinvar/307012 ^@ NM_052845.3(MMAB):c.*2636A>G http://identifiers.org/clinvar/307021 ^@ NM_052845.3(MMAB):c.*1871_*1874dupTATA http://identifiers.org/clinvar/307023 ^@ NM_052845.3(MMAB):c.*1810G>A http://identifiers.org/clinvar/307024 ^@ NM_052845.3(MMAB):c.*1748_*1752dupAAAAA http://identifiers.org/clinvar/300794 ^@ NM_014000.2(VCL):c.2427C>T (p.Ser809=) http://identifiers.org/clinvar/316738 ^@ NM_001101362.2(KBTBD13):c.331G>A (p.Asp111Asn) http://identifiers.org/clinvar/316739 ^@ NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) http://identifiers.org/clinvar/301369 ^@ NM_004329.2(BMPR1A):c.*1342G>C http://identifiers.org/clinvar/301375 ^@ NM_005271.4(GLUD1):c.*1436G>A http://identifiers.org/clinvar/301376 ^@ NM_005271.4(GLUD1):c.*1282G>C http://identifiers.org/clinvar/307025 ^@ NM_052845.3(MMAB):c.*1747A>G http://identifiers.org/clinvar/301380 ^@ NM_005271.4(GLUD1):c.*972G>A http://identifiers.org/clinvar/301383 ^@ NM_005271.4(GLUD1):c.*852A>G http://identifiers.org/clinvar/316745 ^@ NM_001101362.2(KBTBD13):c.751A>G (p.Thr251Ala) http://identifiers.org/clinvar/300807 ^@ NM_014000.2(VCL):c.*864C>T http://identifiers.org/clinvar/316750 ^@ NM_001101362.2(KBTBD13):c.1048C>G (p.Arg350Gly) http://identifiers.org/clinvar/316754 ^@ NM_001101362.2(KBTBD13):c.*71C>T http://identifiers.org/clinvar/316757 ^@ NM_001101362.2(KBTBD13):c.*305C>T http://identifiers.org/clinvar/300812 ^@ NM_014000.2(VCL):c.*1285C>T http://identifiers.org/clinvar/300815 ^@ NM_014000.2(VCL):c.*1584T>A http://identifiers.org/clinvar/300816 ^@ NM_014000.2(VCL):c.*1659C>T http://identifiers.org/clinvar/300823 ^@ NM_014000.2(VCL):c.*1841_*1842insAA http://identifiers.org/clinvar/316759 ^@ NM_001101362.2(KBTBD13):c.*520A>G http://identifiers.org/clinvar/300826 ^@ NM_014000.2(VCL):c.*1849_*1850insC http://identifiers.org/clinvar/316760 ^@ NM_001101362.2(KBTBD13):c.*548_*552delATAAA http://identifiers.org/clinvar/316762 ^@ NM_001101362.2(KBTBD13):c.*694T>C http://identifiers.org/clinvar/316765 ^@ NM_001101362.2(KBTBD13):c.*995T>C http://identifiers.org/clinvar/316767 ^@ NM_001101362.2(KBTBD13):c.*1112C>T http://identifiers.org/clinvar/301385 ^@ NM_005271.4(GLUD1):c.*355T>G http://identifiers.org/clinvar/316779 ^@ NM_004727.2(SLC24A1):c.-275G>A http://identifiers.org/clinvar/316783 ^@ NM_004727.2(SLC24A1):c.-113C>T http://identifiers.org/clinvar/316787 ^@ NM_004727.2(SLC24A1):c.76C>T (p.Leu26Phe) http://identifiers.org/clinvar/307032 ^@ NM_052845.3(MMAB):c.*1576_*1578delAAA http://identifiers.org/clinvar/307030 ^@ NM_052845.3(MMAB):c.*1578delA http://identifiers.org/clinvar/307033 ^@ NM_052845.3(MMAB):c.*1554_*1556delTAA http://identifiers.org/clinvar/300827 ^@ NM_014000.2(VCL):c.*1853A>C http://identifiers.org/clinvar/316791 ^@ NM_004727.2(SLC24A1):c.639G>T (p.Ala213=) http://identifiers.org/clinvar/300828 ^@ NM_014000.2(VCL):c.*1854A>C http://identifiers.org/clinvar/316792 ^@ NM_004727.2(SLC24A1):c.776T>C (p.Phe259Ser) http://identifiers.org/clinvar/316799 ^@ NM_004727.2(SLC24A1):c.2053+6C>T http://identifiers.org/clinvar/316809 ^@ NM_004727.2(SLC24A1):c.3206T>A (p.Ile1069Asn) http://identifiers.org/clinvar/301394 ^@ NM_005271.4(GLUD1):c.919C>T (p.Gln307Ter) http://identifiers.org/clinvar/301404 ^@ NM_005271.4(GLUD1):c.-196C>T http://identifiers.org/clinvar/301406 ^@ NM_000314.6(PTEN):c.-674C>T http://identifiers.org/clinvar/300833 ^@ NM_001123.3(ADK):c.-118G>T http://identifiers.org/clinvar/307034 ^@ NM_052845.3(MMAB):c.*1554delT http://identifiers.org/clinvar/300836 ^@ NM_001123.3(ADK):c.169A>G (p.Lys57Glu) http://identifiers.org/clinvar/300841 ^@ NM_001123.3(ADK):c.676-11T>C http://identifiers.org/clinvar/307037 ^@ NM_052845.3(MMAB):c.*1428C>T http://identifiers.org/clinvar/307038 ^@ NM_052845.3(MMAB):c.*1409G>A http://identifiers.org/clinvar/316816 ^@ NM_004727.2(SLC24A1):c.*766G>A http://identifiers.org/clinvar/301414 ^@ NM_000314.6(PTEN):c.-295T>C http://identifiers.org/clinvar/316818 ^@ NM_004727.2(SLC24A1):c.*1099A>T http://identifiers.org/clinvar/316820 ^@ NM_004727.2(SLC24A1):c.*1222G>C http://identifiers.org/clinvar/300843 ^@ NM_001123.3(ADK):c.1037G>A (p.Ter346=) http://identifiers.org/clinvar/316823 ^@ NM_004727.2(SLC24A1):c.*1504C>T http://identifiers.org/clinvar/316829 ^@ NM_002755.3(MAP2K1):c.-461C>T http://identifiers.org/clinvar/300844 ^@ NM_001123.3(ADK):c.*157G>A http://identifiers.org/clinvar/301433 ^@ NM_000314.6(PTEN):c.*597C>A http://identifiers.org/clinvar/301436 ^@ NM_000314.6(PTEN):c.*631C>A http://identifiers.org/clinvar/300845 ^@ NM_001123.3(ADK):c.*337T>G http://identifiers.org/clinvar/301440 ^@ NM_000314.6(PTEN):c.*788T>C http://identifiers.org/clinvar/301446 ^@ NM_000314.6(PTEN):c.*1150C>A http://identifiers.org/clinvar/301448 ^@ NM_000314.6(PTEN):c.*1202T>C http://identifiers.org/clinvar/301455 ^@ NM_000314.6(PTEN):c.*1436_*1437insGTT http://identifiers.org/clinvar/307042 ^@ NM_052845.3(MMAB):c.*1076_*1079delTTCA http://identifiers.org/clinvar/300846 ^@ NM_001123.3(ADK):c.*375A>G http://identifiers.org/clinvar/316831 ^@ NM_002755.3(MAP2K1):c.-448C>T http://identifiers.org/clinvar/301452 ^@ NM_000314.6(PTEN):c.*1458_*1459delTT http://identifiers.org/clinvar/316840 ^@ NM_002755.3(MAP2K1):c.*245G>A http://identifiers.org/clinvar/316843 ^@ NM_002755.3(MAP2K1):c.*614G>T http://identifiers.org/clinvar/316844 ^@ NM_002755.3(MAP2K1):c.*615G>T http://identifiers.org/clinvar/300857 ^@ NM_012330.3(KAT6B):c.699A>G (p.Glu233=) http://identifiers.org/clinvar/300858 ^@ NM_012330.3(KAT6B):c.929-12A>G http://identifiers.org/clinvar/307048 ^@ NM_052845.3(MMAB):c.*815T>C http://identifiers.org/clinvar/307050 ^@ NM_052845.3(MMAB):c.*716C>T http://identifiers.org/clinvar/316850 ^@ NM_002755.3(MAP2K1):c.*917delA http://identifiers.org/clinvar/307052 ^@ NM_052845.3(MMAB):c.*656C>A http://identifiers.org/clinvar/316849 ^@ NM_002755.3(MAP2K1):c.*917dupA http://identifiers.org/clinvar/300860 ^@ NM_012330.3(KAT6B):c.1235A>G (p.Lys412Arg) http://identifiers.org/clinvar/300862 ^@ NM_012330.3(KAT6B):c.1439C>T (p.Ala480Val) http://identifiers.org/clinvar/301453 ^@ NM_000314.6(PTEN):c.*1459delT http://identifiers.org/clinvar/316858 ^@ NM_005902.3(SMAD3):c.-115C>T http://identifiers.org/clinvar/300864 ^@ NM_012330.3(KAT6B):c.1512C>A (p.Ser504Arg) http://identifiers.org/clinvar/307068 ^@ NM_052845.3(MMAB):c.*368_*378delTGTGTGTGTGTinsAGA http://identifiers.org/clinvar/301451 ^@ NM_000314.6(PTEN):c.*1459dupT http://identifiers.org/clinvar/301462 ^@ NM_000314.6(PTEN):c.*1499C>T http://identifiers.org/clinvar/307073 ^@ NM_052845.3(MMAB):c.*368T>A http://identifiers.org/clinvar/316859 ^@ NM_005902.3(SMAD3):c.-100C>T http://identifiers.org/clinvar/316860 ^@ NM_005902.3(SMAD3):c.341A>G (p.Asn114Ser) http://identifiers.org/clinvar/307074 ^@ NM_052845.3(MMAB):c.*192T>C http://identifiers.org/clinvar/307077 ^@ NM_052845.3(MMAB):c.644+7G>A http://identifiers.org/clinvar/307078 ^@ NM_052845.3(MMAB):c.593C>T (p.Pro198Leu) http://identifiers.org/clinvar/300865 ^@ NM_012330.3(KAT6B):c.1536G>A (p.Thr512=) http://identifiers.org/clinvar/316865 ^@ NM_005902.3(SMAD3):c.*51G>C http://identifiers.org/clinvar/316870 ^@ NM_005902.3(SMAD3):c.*301C>T http://identifiers.org/clinvar/300866 ^@ NM_012330.3(KAT6B):c.1565C>A (p.Ser522Tyr) http://identifiers.org/clinvar/300872 ^@ NM_012330.3(KAT6B):c.2629+9A>G http://identifiers.org/clinvar/307086 ^@ NM_000431.3(MVK):c.-178A>G http://identifiers.org/clinvar/316872 ^@ NM_005902.3(SMAD3):c.*318G>A http://identifiers.org/clinvar/307093 ^@ NM_000431.3(MVK):c.317G>A (p.Arg106His) http://identifiers.org/clinvar/316877 ^@ NM_005902.3(SMAD3):c.*552G>T http://identifiers.org/clinvar/307094 ^@ NM_000431.3(MVK):c.331G>A (p.Ala111Thr) http://identifiers.org/clinvar/316882 ^@ NM_005902.3(SMAD3):c.*632C>A http://identifiers.org/clinvar/316885 ^@ NM_005902.3(SMAD3):c.*665T>A http://identifiers.org/clinvar/316887 ^@ NM_005902.3(SMAD3):c.*789A>G http://identifiers.org/clinvar/316895 ^@ NM_005902.3(SMAD3):c.*1217A>G http://identifiers.org/clinvar/300877 ^@ NM_012330.3(KAT6B):c.3287A>C (p.Glu1096Ala) http://identifiers.org/clinvar/300880 ^@ NM_012330.3(KAT6B):c.3465A>G (p.Val1155=) http://identifiers.org/clinvar/307098 ^@ NM_000431.3(MVK):c.598C>T (p.Pro200Ser) http://identifiers.org/clinvar/316897 ^@ NM_005902.3(SMAD3):c.*1255A>G http://identifiers.org/clinvar/300882 ^@ NM_012330.3(KAT6B):c.3717C>T (p.Pro1239=) http://identifiers.org/clinvar/301463 ^@ NM_000314.6(PTEN):c.*1516T>C http://identifiers.org/clinvar/301473 ^@ NM_000314.6(PTEN):c.*1745G>A http://identifiers.org/clinvar/316905 ^@ NM_005902.3(SMAD3):c.*1515C>A http://identifiers.org/clinvar/301474 ^@ NM_000314.6(PTEN):c.*1762G>A http://identifiers.org/clinvar/316909 ^@ NM_005902.3(SMAD3):c.*1641T>G http://identifiers.org/clinvar/316912 ^@ NM_005902.3(SMAD3):c.*1749G>T http://identifiers.org/clinvar/301476 ^@ NM_000314.6(PTEN):c.*1954A>T http://identifiers.org/clinvar/316913 ^@ NM_005902.3(SMAD3):c.*1767G>C http://identifiers.org/clinvar/316917 ^@ NM_005902.3(SMAD3):c.*1800_*1803delAGAC http://identifiers.org/clinvar/300885 ^@ NM_012330.3(KAT6B):c.3729G>C (p.Lys1243Asn) http://identifiers.org/clinvar/300886 ^@ NM_012330.3(KAT6B):c.3762C>G (p.Arg1254=) http://identifiers.org/clinvar/301477 ^@ NM_000314.6(PTEN):c.*1955T>A http://identifiers.org/clinvar/301487 ^@ NM_000314.6(PTEN):c.*2266_*2268delATT http://identifiers.org/clinvar/300887 ^@ NM_012330.3(KAT6B):c.4036G>T (p.Asp1346Tyr) http://identifiers.org/clinvar/307100 ^@ NM_000431.3(MVK):c.904C>T (p.Gln302Ter) http://identifiers.org/clinvar/301494 ^@ NM_000314.6(PTEN):c.*2688_*2690delCTC http://identifiers.org/clinvar/316918 ^@ NM_005902.3(SMAD3):c.*1805T>C http://identifiers.org/clinvar/301495 ^@ NM_000314.6(PTEN):c.*2746C>A http://identifiers.org/clinvar/316929 ^@ NM_005902.3(SMAD3):c.*2227G>A http://identifiers.org/clinvar/301496 ^@ NM_000314.6(PTEN):c.*2771T>C http://identifiers.org/clinvar/300891 ^@ NM_012330.3(KAT6B):c.4611C>T (p.Ile1537=) http://identifiers.org/clinvar/300894 ^@ NM_012330.3(KAT6B):c.5221A>G (p.Ser1741Gly) http://identifiers.org/clinvar/300897 ^@ NM_012330.3(KAT6B):c.5601C>T (p.Ser1867=) http://identifiers.org/clinvar/300900 ^@ NM_012330.3(KAT6B):c.5879C>T (p.Thr1960Met) http://identifiers.org/clinvar/300904 ^@ NM_012330.3(KAT6B):c.*144delA http://identifiers.org/clinvar/301500 ^@ NM_000314.6(PTEN):c.*3033C>A http://identifiers.org/clinvar/307104 ^@ NM_000431.3(MVK):c.*308G>A http://identifiers.org/clinvar/316930 ^@ NM_005902.3(SMAD3):c.*2229A>G http://identifiers.org/clinvar/300909 ^@ NM_012330.3(KAT6B):c.*538C>G http://identifiers.org/clinvar/301501 ^@ NM_000314.6(PTEN):c.*3083C>A http://identifiers.org/clinvar/301502 ^@ NM_000314.6(PTEN):c.*3177A>G http://identifiers.org/clinvar/300910 ^@ NM_012330.3(KAT6B):c.*628A>G http://identifiers.org/clinvar/301504 ^@ NM_001613.2(ACTA2):c.*105G>T http://identifiers.org/clinvar/316932 ^@ NM_005902.3(SMAD3):c.*2245C>A http://identifiers.org/clinvar/316935 ^@ NM_005902.3(SMAD3):c.*2285G>A http://identifiers.org/clinvar/301506 ^@ NM_001613.2(ACTA2):c.*28A>T http://identifiers.org/clinvar/301512 ^@ NM_001613.2(ACTA2):c.-56C>T http://identifiers.org/clinvar/307109 ^@ NM_000431.3(MVK):c.*550G>A http://identifiers.org/clinvar/316939 ^@ NM_005902.3(SMAD3):c.*2444A>G http://identifiers.org/clinvar/301514 ^@ NM_001141945.2(ACTA2):c.-24+414_-24+415delGG http://identifiers.org/clinvar/301516 ^@ NG_009089.2:g.5010G>A http://identifiers.org/clinvar/301518 ^@ NG_009089.2:g.5173G>A http://identifiers.org/clinvar/301525 ^@ NM_000043.5(FAS):c.141G>A (p.Gln47=) http://identifiers.org/clinvar/316945 ^@ NM_005902.3(SMAD3):c.*2580C>A http://identifiers.org/clinvar/316951 ^@ NM_005902.3(SMAD3):c.*3037C>G http://identifiers.org/clinvar/300922 ^@ NM_002247.3(KCNMA1):c.*2278G>A http://identifiers.org/clinvar/316958 ^@ NM_005902.3(SMAD3):c.*3509A>G http://identifiers.org/clinvar/300928 ^@ NM_002247.3(KCNMA1):c.*1937T>G http://identifiers.org/clinvar/300930 ^@ NM_002247.3(KCNMA1):c.*1887G>A http://identifiers.org/clinvar/301528 ^@ NM_000043.5(FAS):c.432C>T (p.Asp144=) http://identifiers.org/clinvar/316959 ^@ NM_005902.3(SMAD3):c.*3658G>A http://identifiers.org/clinvar/301539 ^@ NM_000043.5(FAS):c.*582T>G http://identifiers.org/clinvar/301547 ^@ NM_000235.3(LIPA):c.*1205T>G http://identifiers.org/clinvar/316961 ^@ NM_005902.3(SMAD3):c.*3735C>T http://identifiers.org/clinvar/316963 ^@ NM_005902.3(SMAD3):c.*4442C>T http://identifiers.org/clinvar/316964 ^@ NM_005902.3(SMAD3):c.*4553C>A http://identifiers.org/clinvar/301550 ^@ NM_000235.3(LIPA):c.*1091T>C http://identifiers.org/clinvar/301559 ^@ NM_000235.3(LIPA):c.*841C>G http://identifiers.org/clinvar/307110 ^@ NM_000431.3(MVK):c.*601G>A http://identifiers.org/clinvar/316966 ^@ NM_017882.2(CLN6):c.*1103G>A http://identifiers.org/clinvar/316967 ^@ NM_017882.2(CLN6):c.*1015T>C http://identifiers.org/clinvar/300934 ^@ NM_002247.3(KCNMA1):c.*1288A>T http://identifiers.org/clinvar/300935 ^@ NM_002247.3(KCNMA1):c.*1284T>C http://identifiers.org/clinvar/307127 ^@ NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) http://identifiers.org/clinvar/316972 ^@ NM_017882.2(CLN6):c.*690A>G http://identifiers.org/clinvar/307128 ^@ NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr) http://identifiers.org/clinvar/307129 ^@ NM_021625.4(TRPV4):c.1584+13C>T http://identifiers.org/clinvar/301561 ^@ NM_000235.3(LIPA):c.*744C>G http://identifiers.org/clinvar/316975 ^@ NM_017882.2(CLN6):c.*532T>A http://identifiers.org/clinvar/316976 ^@ NM_017882.2(CLN6):c.*526A>G http://identifiers.org/clinvar/301565 ^@ NM_000235.3(LIPA):c.*544G>T http://identifiers.org/clinvar/301568 ^@ NM_000235.3(LIPA):c.*491A>G http://identifiers.org/clinvar/316978 ^@ NM_017882.2(CLN6):c.*300C>T http://identifiers.org/clinvar/316980 ^@ NM_017882.2(CLN6):c.*246G>A http://identifiers.org/clinvar/301569 ^@ NM_000235.3(LIPA):c.*385C>A http://identifiers.org/clinvar/307133 ^@ NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) http://identifiers.org/clinvar/316984 ^@ NM_017882.2(CLN6):c.*159_*160dupGT http://identifiers.org/clinvar/316986 ^@ NM_017882.2(CLN6):c.*155_*160dupGTGTGT http://identifiers.org/clinvar/307136 ^@ NM_021625.4(TRPV4):c.854-5C>T http://identifiers.org/clinvar/316991 ^@ NM_017882.2(CLN6):c.*88G>A http://identifiers.org/clinvar/307140 ^@ NM_021625.4(TRPV4):c.549G>A (p.Glu183=) http://identifiers.org/clinvar/301574 ^@ NM_000235.3(LIPA):c.967-13C>A http://identifiers.org/clinvar/316993 ^@ NM_017882.2(CLN6):c.487-12T>A http://identifiers.org/clinvar/316996 ^@ NM_017882.2(CLN6):c.259A>G (p.Met87Val) http://identifiers.org/clinvar/317000 ^@ NM_017882.2(CLN6):c.-108G>C http://identifiers.org/clinvar/307141 ^@ NM_021625.4(TRPV4):c.501C>T (p.Asp167=) http://identifiers.org/clinvar/307143 ^@ NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) http://identifiers.org/clinvar/307147 ^@ NM_001681.3(ATP2A2):c.-482C>T http://identifiers.org/clinvar/317007 ^@ NM_014249.3(NR2E3):c.264G>T (p.Gly88=) http://identifiers.org/clinvar/317013 ^@ NM_014249.3(NR2E3):c.410C>T (p.Ser137Phe) http://identifiers.org/clinvar/307158 ^@ NM_001681.3(ATP2A2):c.-10C>G http://identifiers.org/clinvar/307159 ^@ NM_001681.3(ATP2A2):c.81A>G (p.Glu27=) http://identifiers.org/clinvar/307162 ^@ NM_001681.3(ATP2A2):c.137-12T>C http://identifiers.org/clinvar/301580 ^@ NM_000235.3(LIPA):c.615C>T (p.Ser205=) http://identifiers.org/clinvar/301585 ^@ NM_000235.3(LIPA):c.50T>C (p.Leu17Pro) http://identifiers.org/clinvar/301587 ^@ NM_000235.3(LIPA):c.-48G>A http://identifiers.org/clinvar/301589 ^@ NM_000235.3(LIPA):c.-80T>C http://identifiers.org/clinvar/317016 ^@ NM_014249.3(NR2E3):c.571G>A (p.Ala191Thr) http://identifiers.org/clinvar/317017 ^@ NM_014249.3(NR2E3):c.572-13C>T http://identifiers.org/clinvar/301594 ^@ NM_014391.2(ANKRD1):c.*571_*574dupTTTT http://identifiers.org/clinvar/301595 ^@ NM_014391.2(ANKRD1):c.*566_*574delTTTTTTTTT http://identifiers.org/clinvar/301598 ^@ NM_014391.2(ANKRD1):c.*371T>G http://identifiers.org/clinvar/300936 ^@ NM_002247.3(KCNMA1):c.*1243T>C http://identifiers.org/clinvar/301600 ^@ NM_014391.2(ANKRD1):c.*319A>G http://identifiers.org/clinvar/317019 ^@ NM_014249.3(NR2E3):c.838C>G (p.Pro280Ala) http://identifiers.org/clinvar/317020 ^@ NM_014249.3(NR2E3):c.900G>A (p.Thr300=) http://identifiers.org/clinvar/300941 ^@ NM_002247.3(KCNMA1):c.*1025G>C http://identifiers.org/clinvar/307172 ^@ NM_001681.3(ATP2A2):c.1420-8C>G http://identifiers.org/clinvar/317023 ^@ NM_014249.3(NR2E3):c.*197T>G http://identifiers.org/clinvar/300944 ^@ NM_002247.3(KCNMA1):c.*834T>C http://identifiers.org/clinvar/300945 ^@ NM_002247.3(KCNMA1):c.*690C>A http://identifiers.org/clinvar/307173 ^@ NM_001681.3(ATP2A2):c.1758T>C (p.Tyr586=) http://identifiers.org/clinvar/301603 ^@ NM_014391.2(ANKRD1):c.*59A>G http://identifiers.org/clinvar/300949 ^@ NM_002247.3(KCNMA1):c.*531C>T http://identifiers.org/clinvar/300950 ^@ NM_002247.3(KCNMA1):c.*497A>G http://identifiers.org/clinvar/317024 ^@ NM_014249.3(NR2E3):c.*231A>G http://identifiers.org/clinvar/300952 ^@ NM_002247.3(KCNMA1):c.*437_*440delCTTT http://identifiers.org/clinvar/300953 ^@ NM_002247.3(KCNMA1):c.*423_*425delGTT http://identifiers.org/clinvar/307176 ^@ NM_001681.3(ATP2A2):c.1983C>T (p.Asn661=) http://identifiers.org/clinvar/307178 ^@ NM_001681.3(ATP2A2):c.2172G>A (p.Ala724=) http://identifiers.org/clinvar/307183 ^@ NM_001681.3(ATP2A2):c.2628A>G (p.Lys876=) http://identifiers.org/clinvar/317026 ^@ NM_014249.3(NR2E3):c.*340G>C http://identifiers.org/clinvar/317028 ^@ NM_014249.3(NR2E3):c.*554A>C http://identifiers.org/clinvar/307191 ^@ NM_001681.3(ATP2A2):c.*83G>T http://identifiers.org/clinvar/307192 ^@ NM_001681.3(ATP2A2):c.*148A>C http://identifiers.org/clinvar/317037 ^@ NM_000520.5(HEXA):c.*355C>G http://identifiers.org/clinvar/307197 ^@ NM_001681.3(ATP2A2):c.*745C>T http://identifiers.org/clinvar/307201 ^@ NM_001082538.2(TCTN1):c.-84T>C http://identifiers.org/clinvar/307202 ^@ NM_001082538.2(TCTN1):c.-46G>C http://identifiers.org/clinvar/300957 ^@ NM_002247.3(KCNMA1):c.*113dupT http://identifiers.org/clinvar/307204 ^@ NM_001082538.2(TCTN1):c.211G>A (p.Val71Ile) http://identifiers.org/clinvar/307208 ^@ NM_001082538.2(TCTN1):c.960C>T (p.Cys320=) http://identifiers.org/clinvar/307225 ^@ NM_002834.4(PTPN11):c.853+8T>C http://identifiers.org/clinvar/300967 ^@ NM_002247.3(KCNMA1):c.1131+13C>A http://identifiers.org/clinvar/317045 ^@ NM_000520.5(HEXA):c.673-13T>C http://identifiers.org/clinvar/300971 ^@ NM_002247.3(KCNMA1):c.182T>C (p.Val61Ala) http://identifiers.org/clinvar/307228 ^@ NM_002834.4(PTPN11):c.*325G>A http://identifiers.org/clinvar/300978 ^@ NM_002247.3(KCNMA1):c.-101_-96dupGGCAGC http://identifiers.org/clinvar/307234 ^@ NM_002834.4(PTPN11):c.*775G>A http://identifiers.org/clinvar/307236 ^@ NM_002834.4(PTPN11):c.*1006delG http://identifiers.org/clinvar/307239 ^@ NM_002834.4(PTPN11):c.*1196_*1201dupATGATG http://identifiers.org/clinvar/307241 ^@ NM_002834.4(PTPN11):c.*1199_*1201dupATG http://identifiers.org/clinvar/307245 ^@ NM_002834.4(PTPN11):c.*1536T>C http://identifiers.org/clinvar/307247 ^@ NM_002834.4(PTPN11):c.*1588C>G http://identifiers.org/clinvar/307250 ^@ NM_002834.4(PTPN11):c.*1806G>A http://identifiers.org/clinvar/307257 ^@ NM_002834.4(PTPN11):c.*2928A>T http://identifiers.org/clinvar/301616 ^@ NM_006204.3(PDE6C):c.124G>A (p.Val42Met) http://identifiers.org/clinvar/317054 ^@ NM_000520.5(HEXA):c.-181T>C http://identifiers.org/clinvar/317058 ^@ NM_033028.4(BBS4):c.37C>T (p.Pro13Ser) http://identifiers.org/clinvar/301617 ^@ NM_006204.3(PDE6C):c.252G>T (p.Leu84=) http://identifiers.org/clinvar/301619 ^@ NM_006204.3(PDE6C):c.356C>T (p.Pro119Leu) http://identifiers.org/clinvar/301624 ^@ NM_006204.3(PDE6C):c.724-15G>T http://identifiers.org/clinvar/307271 ^@ NM_000192.3(TBX5):c.*1331T>G http://identifiers.org/clinvar/300987 ^@ NM_007055.3(POLR3A):c.*1953G>C http://identifiers.org/clinvar/300992 ^@ NM_007055.3(POLR3A):c.*1869C>T http://identifiers.org/clinvar/301625 ^@ NM_006204.3(PDE6C):c.864+13C>T http://identifiers.org/clinvar/301626 ^@ NM_006204.3(PDE6C):c.939+4C>T http://identifiers.org/clinvar/301631 ^@ NM_006204.3(PDE6C):c.1104A>G (p.Glu368=) http://identifiers.org/clinvar/317062 ^@ NM_033028.4(BBS4):c.1107-7G>A http://identifiers.org/clinvar/307281 ^@ NM_000192.3(TBX5):c.*852C>T http://identifiers.org/clinvar/301000 ^@ NM_007055.3(POLR3A):c.*1718G>C http://identifiers.org/clinvar/317064 ^@ NM_033028.4(BBS4):c.1309A>G (p.Thr437Ala) http://identifiers.org/clinvar/301008 ^@ NM_007055.3(POLR3A):c.*1342delA http://identifiers.org/clinvar/317068 ^@ NM_033028.4(BBS4):c.1473C>G (p.Phe491Leu) http://identifiers.org/clinvar/301632 ^@ NM_006204.3(PDE6C):c.1482+9T>C http://identifiers.org/clinvar/301635 ^@ NM_006204.3(PDE6C):c.1935+4C>T http://identifiers.org/clinvar/317071 ^@ NM_033028.4(BBS4):c.*149C>A http://identifiers.org/clinvar/301640 ^@ NM_006204.3(PDE6C):c.2208+13_2208+17delAAGTT http://identifiers.org/clinvar/301642 ^@ NM_006204.3(PDE6C):c.2425A>C (p.Arg809=) http://identifiers.org/clinvar/301645 ^@ NM_006204.3(PDE6C):c.*26A>G http://identifiers.org/clinvar/307282 ^@ NM_000192.3(TBX5):c.*812C>T http://identifiers.org/clinvar/307300 ^@ NM_000192.3(TBX5):c.*97G>A http://identifiers.org/clinvar/307301 ^@ NM_000192.3(TBX5):c.*77A>G http://identifiers.org/clinvar/301648 ^@ NM_006204.3(PDE6C):c.*235A>T http://identifiers.org/clinvar/307307 ^@ NM_000192.3(TBX5):c.354T>C (p.Asp118=) http://identifiers.org/clinvar/317072 ^@ NM_033028.4(BBS4):c.*157C>G http://identifiers.org/clinvar/307309 ^@ NM_000192.3(TBX5):c.174C>T (p.Leu58=) http://identifiers.org/clinvar/317075 ^@ NM_033028.4(BBS4):c.*643A>C http://identifiers.org/clinvar/301652 ^@ NM_005097.3(LGI1):c.-227T>C http://identifiers.org/clinvar/301654 ^@ NM_005097.3(LGI1):c.-66G>C http://identifiers.org/clinvar/301011 ^@ NM_007055.3(POLR3A):c.*1219T>A http://identifiers.org/clinvar/301657 ^@ NM_005097.3(LGI1):c.838+11C>T http://identifiers.org/clinvar/317076 ^@ NM_033028.4(BBS4):c.*855_*856delAA http://identifiers.org/clinvar/301660 ^@ NM_005097.3(LGI1):c.1392G>A (p.Ser464=) http://identifiers.org/clinvar/317078 ^@ NM_033028.4(BBS4):c.*885T>C http://identifiers.org/clinvar/317082 ^@ NM_022369.3(STRA6):c.*399G>A http://identifiers.org/clinvar/317083 ^@ NM_022369.3(STRA6):c.*381C>T http://identifiers.org/clinvar/317086 ^@ NM_022369.3(STRA6):c.*209G>C http://identifiers.org/clinvar/301663 ^@ NM_005097.3(LGI1):c.*323A>C http://identifiers.org/clinvar/301676 ^@ NM_016341.3(PLCE1):c.-135G>A http://identifiers.org/clinvar/307314 ^@ NM_000192.3(TBX5):c.-255G>T http://identifiers.org/clinvar/317088 ^@ NM_022369.3(STRA6):c.*178C>T http://identifiers.org/clinvar/307315 ^@ NM_000192.3(TBX5):c.-305C>A http://identifiers.org/clinvar/301682 ^@ NM_016341.3(PLCE1):c.323A>G (p.Asn108Ser) http://identifiers.org/clinvar/317091 ^@ NM_022369.3(STRA6):c.*75C>A http://identifiers.org/clinvar/301020 ^@ NM_007055.3(POLR3A):c.*813A>G http://identifiers.org/clinvar/317093 ^@ NM_022369.3(STRA6):c.1992T>C (p.Gly664=) http://identifiers.org/clinvar/301022 ^@ NM_007055.3(POLR3A):c.*673A>G http://identifiers.org/clinvar/307317 ^@ NM_000192.3(TBX5):c.-449G>C http://identifiers.org/clinvar/301024 ^@ NM_007055.3(POLR3A):c.*470G>A http://identifiers.org/clinvar/301033 ^@ NM_007055.3(POLR3A):c.4024+11T>G http://identifiers.org/clinvar/307329 ^@ NM_005996.3(TBX3):c.*1285A>G http://identifiers.org/clinvar/301042 ^@ NM_007055.3(POLR3A):c.3594+15G>A http://identifiers.org/clinvar/301043 ^@ NM_007055.3(POLR3A):c.3594+11A>C http://identifiers.org/clinvar/307330 ^@ NM_005996.3(TBX3):c.*1264C>G http://identifiers.org/clinvar/307336 ^@ NM_005996.3(TBX3):c.*739A>G http://identifiers.org/clinvar/301684 ^@ NM_016341.3(PLCE1):c.459A>G (p.Gln153=) http://identifiers.org/clinvar/301687 ^@ NM_016341.3(PLCE1):c.642A>T (p.Gly214=) http://identifiers.org/clinvar/307340 ^@ NM_005996.3(TBX3):c.*471T>G http://identifiers.org/clinvar/301044 ^@ NM_007055.3(POLR3A):c.3351T>A (p.Ile1117=) http://identifiers.org/clinvar/301053 ^@ NM_007055.3(POLR3A):c.2617-6C>T http://identifiers.org/clinvar/301054 ^@ NM_007055.3(POLR3A):c.2604G>A (p.Thr868=) http://identifiers.org/clinvar/307341 ^@ NM_005996.3(TBX3):c.*423G>C http://identifiers.org/clinvar/307343 ^@ NM_005996.3(TBX3):c.*400_*403delCAAA http://identifiers.org/clinvar/317097 ^@ NM_022369.3(STRA6):c.1840+12C>T http://identifiers.org/clinvar/307345 ^@ NM_005996.3(TBX3):c.*366A>T http://identifiers.org/clinvar/301062 ^@ NM_007055.3(POLR3A):c.2031A>G (p.Ala677=) http://identifiers.org/clinvar/317101 ^@ NM_022369.3(STRA6):c.1566G>T (p.Val522=) http://identifiers.org/clinvar/301064 ^@ NM_007055.3(POLR3A):c.1781T>G (p.Leu594Arg) http://identifiers.org/clinvar/301073 ^@ NM_007055.3(POLR3A):c.1432-12T>G http://identifiers.org/clinvar/317107 ^@ NM_022369.3(STRA6):c.993G>A (p.Thr331=) http://identifiers.org/clinvar/317111 ^@ NM_022369.3(STRA6):c.597+9T>G http://identifiers.org/clinvar/301076 ^@ NM_007055.3(POLR3A):c.876T>A (p.Val292=) http://identifiers.org/clinvar/317126 ^@ NM_000781.2(CYP11A1):c.939C>T (p.Phe313=) http://identifiers.org/clinvar/317127 ^@ NM_000781.2(CYP11A1):c.830-14C>G http://identifiers.org/clinvar/301688 ^@ NM_016341.3(PLCE1):c.664G>C (p.Gly222Arg) http://identifiers.org/clinvar/317132 ^@ NM_000781.2(CYP11A1):c.235G>A (p.Val79Ile) http://identifiers.org/clinvar/317143 ^@ NM_002435.2(MPI):c.1178G>C (p.Gly393Ala) http://identifiers.org/clinvar/301078 ^@ NM_007055.3(POLR3A):c.726A>G (p.Pro242=) http://identifiers.org/clinvar/307348 ^@ NM_005996.3(TBX3):c.*57T>C http://identifiers.org/clinvar/307351 ^@ NM_005996.3(TBX3):c.*14A>G http://identifiers.org/clinvar/301082 ^@ NM_007055.3(POLR3A):c.318+13G>C http://identifiers.org/clinvar/307355 ^@ NM_005996.3(TBX3):c.1971G>A (p.Leu657=) http://identifiers.org/clinvar/307377 ^@ NM_005996.3(TBX3):c.263G>A (p.Arg88Lys) http://identifiers.org/clinvar/301692 ^@ NM_016341.3(PLCE1):c.1090A>G (p.Ile364Val) http://identifiers.org/clinvar/301092 ^@ NM_033022.3(RPS24):c.168T>C (p.Phe56=) http://identifiers.org/clinvar/301694 ^@ NM_016341.3(PLCE1):c.1313T>C (p.Val438Ala) http://identifiers.org/clinvar/317154 ^@ NM_000126.3(ETFA):c.*55C>G http://identifiers.org/clinvar/301700 ^@ NM_016341.3(PLCE1):c.1567A>G (p.Ile523Val) http://identifiers.org/clinvar/317163 ^@ NM_003978.4(PSTPIP1):c.-405_-402dupCCTG http://identifiers.org/clinvar/301095 ^@ NM_033022.3(RPS24):c.280-11_280-10delTT http://identifiers.org/clinvar/301099 ^@ NM_033022.3(RPS24):c.*99T>C http://identifiers.org/clinvar/301157 ^@ NM_000429.2(MAT1A):c.*1268T>C http://identifiers.org/clinvar/301705 ^@ NM_016341.3(PLCE1):c.2428A>G (p.Ile810Val) http://identifiers.org/clinvar/301162 ^@ NM_000429.2(MAT1A):c.*1029G>A http://identifiers.org/clinvar/317166 ^@ NM_003978.4(PSTPIP1):c.-275_-271dupGCTGG http://identifiers.org/clinvar/317170 ^@ NM_003978.4(PSTPIP1):c.59C>T (p.Thr20Met) http://identifiers.org/clinvar/301716 ^@ NM_016341.3(PLCE1):c.3876G>A (p.Ser1292=) http://identifiers.org/clinvar/301723 ^@ NM_016341.3(PLCE1):c.4733A>T (p.Asn1578Ile) http://identifiers.org/clinvar/301740 ^@ NM_016341.3(PLCE1):c.*253C>T http://identifiers.org/clinvar/307382 ^@ NM_005996.3(TBX3):c.-183C>T http://identifiers.org/clinvar/301745 ^@ NM_002860.3(ALDH18A1):c.*734C>A http://identifiers.org/clinvar/317179 ^@ NM_003978.4(PSTPIP1):c.652C>T (p.Leu218=) http://identifiers.org/clinvar/301174 ^@ NM_000429.2(MAT1A):c.*657C>T http://identifiers.org/clinvar/307385 ^@ NM_005996.3(TBX3):c.-209G>A http://identifiers.org/clinvar/307389 ^@ NM_005996.3(TBX3):c.-331T>C http://identifiers.org/clinvar/301177 ^@ NM_000429.2(MAT1A):c.*523T>C http://identifiers.org/clinvar/301179 ^@ NM_000429.2(MAT1A):c.*299G>A http://identifiers.org/clinvar/301750 ^@ NM_002860.3(ALDH18A1):c.*292C>T http://identifiers.org/clinvar/317181 ^@ NM_003978.4(PSTPIP1):c.856A>G (p.Asn286Asp) http://identifiers.org/clinvar/317196 ^@ NM_000137.2(FAH):c.-105G>C http://identifiers.org/clinvar/301759 ^@ NM_002860.3(ALDH18A1):c.2098G>A (p.Val700Ile) http://identifiers.org/clinvar/301762 ^@ NM_002860.3(ALDH18A1):c.1770C>T (p.Ser590=) http://identifiers.org/clinvar/317199 ^@ NM_000137.2(FAH):c.-43G>T http://identifiers.org/clinvar/317210 ^@ NM_000137.2(FAH):c.291A>C (p.Arg97Ser) http://identifiers.org/clinvar/301766 ^@ NM_002860.3(ALDH18A1):c.1385A>G (p.Lys462Arg) http://identifiers.org/clinvar/307394 ^@ NM_005996.3(TBX3):c.-441C>G http://identifiers.org/clinvar/301181 ^@ NM_000429.2(MAT1A):c.*121C>G http://identifiers.org/clinvar/301183 ^@ NM_000429.2(MAT1A):c.*84C>T http://identifiers.org/clinvar/301201 ^@ NM_000429.2(MAT1A):c.-73_-72insGAAAAA http://identifiers.org/clinvar/301202 ^@ NM_000429.2(MAT1A):c.-73_-72insGAAAAAA http://identifiers.org/clinvar/301204 ^@ NM_000429.2(MAT1A):c.-75G>A http://identifiers.org/clinvar/301770 ^@ NM_002860.3(ALDH18A1):c.1115C>A (p.Ser372Tyr) http://identifiers.org/clinvar/301105 ^@ NM_001002295.1(GATA3):c.-359G>A http://identifiers.org/clinvar/317212 ^@ NM_000137.2(FAH):c.567A>G (p.Val189=) http://identifiers.org/clinvar/301771 ^@ NM_002860.3(ALDH18A1):c.1083T>C (p.Pro361=) http://identifiers.org/clinvar/317213 ^@ NM_000137.2(FAH):c.747A>G (p.Pro249=) http://identifiers.org/clinvar/317216 ^@ NM_000137.2(FAH):c.1152G>T (p.Leu384=) http://identifiers.org/clinvar/307397 ^@ NM_005996.3(TBX3):c.-568T>A http://identifiers.org/clinvar/307400 ^@ NM_005996.3(TBX3):c.-727T>C http://identifiers.org/clinvar/317222 ^@ NM_000137.2(FAH):c.*310T>A http://identifiers.org/clinvar/307406 ^@ NM_005996.3(TBX3):c.-873_-872insTT http://identifiers.org/clinvar/307402 ^@ NM_005996.3(TBX3):c.-881_-872dupTCTCTCTCTC http://identifiers.org/clinvar/307413 ^@ NM_014365.2(HSPB8):c.-201G>T http://identifiers.org/clinvar/301772 ^@ NM_002860.3(ALDH18A1):c.934-7T>A http://identifiers.org/clinvar/307422 ^@ NM_014365.2(HSPB8):c.*504T>C http://identifiers.org/clinvar/317225 ^@ NM_000326.4(RLBP1):c.*356G>A http://identifiers.org/clinvar/307424 ^@ NM_014365.2(HSPB8):c.*616C>G http://identifiers.org/clinvar/307426 ^@ NM_014365.2(HSPB8):c.*644A>G http://identifiers.org/clinvar/317226 ^@ NM_000326.4(RLBP1):c.*334T>C http://identifiers.org/clinvar/307431 ^@ NM_014365.2(HSPB8):c.*869_*871dupTAA http://identifiers.org/clinvar/307436 ^@ NM_000017.3(ACADS):c.465C>T (p.Ser155=) http://identifiers.org/clinvar/307437 ^@ NM_000017.3(ACADS):c.552C>T (p.Ala184=) http://identifiers.org/clinvar/301778 ^@ NM_002860.3(ALDH18A1):c.-29+10G>A http://identifiers.org/clinvar/317231 ^@ NM_000326.4(RLBP1):c.924C>G (p.Pro308=) http://identifiers.org/clinvar/307443 ^@ NM_000017.3(ACADS):c.*27C>T http://identifiers.org/clinvar/317236 ^@ NM_000326.4(RLBP1):c.795+15C>T http://identifiers.org/clinvar/317240 ^@ NM_000326.4(RLBP1):c.304G>C (p.Ala102Pro) http://identifiers.org/clinvar/317242 ^@ NM_000326.4(RLBP1):c.191G>A (p.Arg64Gln) http://identifiers.org/clinvar/317245 ^@ NM_000326.4(RLBP1):c.-70G>A http://identifiers.org/clinvar/301781 ^@ NM_002860.3(ALDH18A1):c.-79A>G http://identifiers.org/clinvar/301784 ^@ NM_002860.3(ALDH18A1):c.-166T>C http://identifiers.org/clinvar/301791 ^@ NM_138413.3(HOGA1):c.538G>A (p.Val180Met) http://identifiers.org/clinvar/301116 ^@ NM_001002295.1(GATA3):c.-48G>T http://identifiers.org/clinvar/301140 ^@ NM_001002295.1(GATA3):c.*612G>A http://identifiers.org/clinvar/307446 ^@ NM_000017.3(ACADS):c.*174G>C http://identifiers.org/clinvar/307454 ^@ NM_000545.6(HNF1A):c.-6C>T http://identifiers.org/clinvar/307456 ^@ NM_000545.6(HNF1A):c.42G>A (p.Ala14=) http://identifiers.org/clinvar/301141 ^@ NM_001002295.1(GATA3):c.*647A>G http://identifiers.org/clinvar/307461 ^@ NM_000545.6(HNF1A):c.1015G>A (p.Gly339Ser) http://identifiers.org/clinvar/317248 ^@ NM_000326.4(RLBP1):c.-182G>C http://identifiers.org/clinvar/317252 ^@ NM_000326.4(RLBP1):c.-285C>G http://identifiers.org/clinvar/317257 ^@ NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) http://identifiers.org/clinvar/317265 ^@ NM_001113378.1(FANCI):c.669+17_669+18delGT http://identifiers.org/clinvar/301143 ^@ NM_001002295.1(GATA3):c.*714G>A http://identifiers.org/clinvar/301144 ^@ NM_001002295.1(GATA3):c.*746C>T http://identifiers.org/clinvar/301145 ^@ NM_001002295.1(GATA3):c.*798G>A http://identifiers.org/clinvar/301210 ^@ NM_033100.3(CDHR1):c.152-12_152-11delGT http://identifiers.org/clinvar/301221 ^@ NM_033100.3(CDHR1):c.640-14C>T http://identifiers.org/clinvar/301224 ^@ NM_033100.3(CDHR1):c.783G>A (p.Pro261=) http://identifiers.org/clinvar/317283 ^@ NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) http://identifiers.org/clinvar/301226 ^@ NM_033100.3(CDHR1):c.783+11G>A http://identifiers.org/clinvar/301227 ^@ NM_033100.3(CDHR1):c.848A>G (p.Tyr283Cys) http://identifiers.org/clinvar/301801 ^@ NM_138413.3(HOGA1):c.*186C>T http://identifiers.org/clinvar/317286 ^@ NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) http://identifiers.org/clinvar/317296 ^@ NM_001113378.1(FANCI):c.3721-15G>A http://identifiers.org/clinvar/301813 ^@ NM_138413.3(HOGA1):c.*355C>T http://identifiers.org/clinvar/301812 ^@ NM_138413.3(HOGA1):c.*359dupT http://identifiers.org/clinvar/317301 ^@ NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) http://identifiers.org/clinvar/317302 ^@ NM_001113378.1(FANCI):c.3925-84_3925-81dupTAGA http://identifiers.org/clinvar/317308 ^@ NG_008218.2:g.23094G>A http://identifiers.org/clinvar/301229 ^@ NM_033100.3(CDHR1):c.886A>G (p.Asn296Asp) http://identifiers.org/clinvar/301234 ^@ NM_033100.3(CDHR1):c.1072G>A (p.Gly358Arg) http://identifiers.org/clinvar/307462 ^@ NM_000545.6(HNF1A):c.1768+11C>T http://identifiers.org/clinvar/307468 ^@ NM_000545.6(HNF1A):c.*438G>A http://identifiers.org/clinvar/301238 ^@ NM_033100.3(CDHR1):c.1344C>T (p.Thr448=) http://identifiers.org/clinvar/301827 ^@ NM_001002261.3(ZFYVE27):c.-1G>A http://identifiers.org/clinvar/317310 ^@ NM_002693.2(POLG):c.*30G>A http://identifiers.org/clinvar/307470 ^@ NM_000545.6(HNF1A):c.*603G>A http://identifiers.org/clinvar/301832 ^@ NM_001002261.3(ZFYVE27):c.456-12C>T http://identifiers.org/clinvar/317320 ^@ NG_008218.2:g.22678A>G http://identifiers.org/clinvar/307471 ^@ NM_000545.6(HNF1A):c.*908G>A http://identifiers.org/clinvar/301837 ^@ NM_001002261.3(ZFYVE27):c.891+15C>T http://identifiers.org/clinvar/307472 ^@ NM_000545.6(HNF1A):c.*939G>A http://identifiers.org/clinvar/301848 ^@ NM_001002261.3(ZFYVE27):c.*413C>T http://identifiers.org/clinvar/317321 ^@ NG_008218.2:g.22677T>G http://identifiers.org/clinvar/301241 ^@ NM_033100.3(CDHR1):c.1464C>T (p.Gly488=) http://identifiers.org/clinvar/301849 ^@ NM_001002261.3(ZFYVE27):c.*678A>C http://identifiers.org/clinvar/317327 ^@ NM_002693.2(POLG):c.2279G>A (p.Cys760Tyr) http://identifiers.org/clinvar/301862 ^@ NM_001002261.3(ZFYVE27):c.*1340G>C http://identifiers.org/clinvar/301865 ^@ NM_001002261.3(ZFYVE27):c.*1450G>A http://identifiers.org/clinvar/307473 ^@ NM_000545.6(HNF1A):c.*1070C>T http://identifiers.org/clinvar/317329 ^@ NM_002693.2(POLG):c.2157+15G>A http://identifiers.org/clinvar/317330 ^@ NM_002693.2(POLG):c.1905G>A (p.Pro635=) http://identifiers.org/clinvar/307476 ^@ NM_000545.6(HNF1A):c.*1312C>T http://identifiers.org/clinvar/307477 ^@ NM_002150.2(HPD):c.*191C>T http://identifiers.org/clinvar/307478 ^@ NM_002150.2(HPD):c.1018G>T (p.Val340Leu) http://identifiers.org/clinvar/298308 ^@ NM_000195.4(HPS1):c.*1217T>C http://identifiers.org/clinvar/301244 ^@ NM_033100.3(CDHR1):c.1553+6T>C http://identifiers.org/clinvar/301245 ^@ NM_033100.3(CDHR1):c.1589C>G (p.Thr530Ser) http://identifiers.org/clinvar/298314 ^@ NM_000195.4(HPS1):c.*982T>C http://identifiers.org/clinvar/317333 ^@ NM_002693.2(POLG):c.1171-11C>T http://identifiers.org/clinvar/317334 ^@ NM_002693.2(POLG):c.1170+6G>A http://identifiers.org/clinvar/301250 ^@ NM_033100.3(CDHR1):c.1873C>G (p.His625Asp) http://identifiers.org/clinvar/301251 ^@ NM_033100.3(CDHR1):c.1982G>C (p.Arg661Pro) http://identifiers.org/clinvar/301259 ^@ NM_033100.3(CDHR1):c.2430C>A (p.Thr810=) http://identifiers.org/clinvar/307480 ^@ NM_002150.2(HPD):c.914C>T (p.Thr305Met) http://identifiers.org/clinvar/317341 ^@ NM_198525.2(KIF7):c.*430dupA http://identifiers.org/clinvar/317343 ^@ NM_198525.2(KIF7):c.*238C>T http://identifiers.org/clinvar/301265 ^@ NM_033100.3(CDHR1):c.*242T>G http://identifiers.org/clinvar/301268 ^@ NM_033100.3(CDHR1):c.*305C>G http://identifiers.org/clinvar/307481 ^@ NM_002150.2(HPD):c.895C>T (p.Leu299=) http://identifiers.org/clinvar/317350 ^@ NM_198525.2(KIF7):c.3759C>G (p.Pro1253=) http://identifiers.org/clinvar/301272 ^@ NM_033100.3(CDHR1):c.*503C>T http://identifiers.org/clinvar/307483 ^@ NM_002150.2(HPD):c.765T>C (p.Tyr255=) http://identifiers.org/clinvar/307487 ^@ NM_002150.2(HPD):c.294C>T (p.Phe98=) http://identifiers.org/clinvar/307490 ^@ NM_002150.2(HPD):c.93+9C>T http://identifiers.org/clinvar/317351 ^@ NM_198525.2(KIF7):c.3252C>T (p.Leu1084=) http://identifiers.org/clinvar/317363 ^@ NM_198525.2(KIF7):c.2077G>T (p.Val693Phe) http://identifiers.org/clinvar/301274 ^@ NM_033100.3(CDHR1):c.*583G>A http://identifiers.org/clinvar/301277 ^@ NM_033100.3(CDHR1):c.*838G>T http://identifiers.org/clinvar/301283 ^@ NM_033100.3(CDHR1):c.*927T>C http://identifiers.org/clinvar/298315 ^@ NM_000195.4(HPS1):c.*955A>G http://identifiers.org/clinvar/307498 ^@ NM_152269.4(C12orf65):c.*14delG http://identifiers.org/clinvar/298324 ^@ NM_000195.4(HPS1):c.*635T>C http://identifiers.org/clinvar/317364 ^@ NM_198525.2(KIF7):c.2074C>G (p.Gln692Glu) http://identifiers.org/clinvar/317368 ^@ NM_198525.2(KIF7):c.1290C>T (p.Pro430=) http://identifiers.org/clinvar/298328 ^@ NM_000195.4(HPS1):c.*460C>T http://identifiers.org/clinvar/317369 ^@ NM_198525.2(KIF7):c.1221C>T (p.Ala407=) http://identifiers.org/clinvar/301288 ^@ NM_033100.3(CDHR1):c.*1082A>C http://identifiers.org/clinvar/317373 ^@ NM_198525.2(KIF7):c.952G>A (p.Ala318Thr) http://identifiers.org/clinvar/298341 ^@ NM_000195.4(HPS1):c.1286G>A (p.Arg429His) http://identifiers.org/clinvar/298353 ^@ NM_000195.4(HPS1):c.179C>T (p.Thr60Met) http://identifiers.org/clinvar/317379 ^@ NM_198525.2(KIF7):c.418C>T (p.Leu140=) http://identifiers.org/clinvar/298357 ^@ NM_000195.4(HPS1):c.-28G>A http://identifiers.org/clinvar/298358 ^@ NM_000195.4(HPS1):c.-51C>A http://identifiers.org/clinvar/301298 ^@ NM_033100.3(CDHR1):c.*1737C>T http://identifiers.org/clinvar/317381 ^@ NM_198525.2(KIF7):c.376G>A (p.Glu126Lys) http://identifiers.org/clinvar/301301 ^@ NM_033100.3(CDHR1):c.*1915C>A http://identifiers.org/clinvar/317382 ^@ NM_198525.2(KIF7):c.208G>A (p.Val70Met) http://identifiers.org/clinvar/298366 ^@ NM_004376.5(COX15):c.*4392G>A http://identifiers.org/clinvar/301302 ^@ NM_033100.3(CDHR1):c.*2017C>T http://identifiers.org/clinvar/307500 ^@ NM_152269.4(C12orf65):c.*139A>C http://identifiers.org/clinvar/307502 ^@ NM_152269.4(C12orf65):c.*198T>C http://identifiers.org/clinvar/317383 ^@ NM_198525.2(KIF7):c.-52G>T http://identifiers.org/clinvar/298367 ^@ NM_004376.5(COX15):c.*4218C>T http://identifiers.org/clinvar/307506 ^@ NM_152269.4(C12orf65):c.*468C>T http://identifiers.org/clinvar/301313 ^@ NM_033100.3(CDHR1):c.*2589G>A http://identifiers.org/clinvar/301314 ^@ NM_033100.3(CDHR1):c.*2643A>T http://identifiers.org/clinvar/298375 ^@ NM_004376.5(COX15):c.*3566C>T http://identifiers.org/clinvar/298379 ^@ NM_004376.5(COX15):c.*3086G>T http://identifiers.org/clinvar/298380 ^@ NM_004376.6(COX15):c.*2842T>C http://identifiers.org/clinvar/317387 ^@ NM_001039958.1(MESP2):c.556C>G (p.Gln186Glu) http://identifiers.org/clinvar/298381 ^@ NM_004376.6(COX15):c.*2841G>A http://identifiers.org/clinvar/317395 ^@ NM_001039958.1(MESP2):c.1080C>T (p.Ala360=) http://identifiers.org/clinvar/301316 ^@ NM_001012720.1(RGR):c.-17A>G http://identifiers.org/clinvar/301331 ^@ NM_001080116.1(LDB3):c.-55C>A http://identifiers.org/clinvar/307513 ^@ NM_152269.4(C12orf65):c.*747G>A http://identifiers.org/clinvar/317400 ^@ NM_001039958.1(MESP2):c.*210C>G http://identifiers.org/clinvar/317411 ^@ NM_000057.3(BLM):c.3827C>A (p.Ala1276Glu) http://identifiers.org/clinvar/307521 ^@ NM_001414.3(EIF2B1):c.*422C>T http://identifiers.org/clinvar/307523 ^@ NM_001414.3(EIF2B1):c.*378C>T http://identifiers.org/clinvar/317416 ^@ NM_018668.4(VPS33B):c.*262T>G http://identifiers.org/clinvar/307529 ^@ NM_001414.3(EIF2B1):c.417A>G (p.Glu139=) http://identifiers.org/clinvar/307530 ^@ NM_001414.3(EIF2B1):c.-70C>T http://identifiers.org/clinvar/317420 ^@ NM_018668.4(VPS33B):c.1332G>A (p.Thr444=) http://identifiers.org/clinvar/307533 ^@ NM_001414.3(EIF2B1):c.-91C>G http://identifiers.org/clinvar/307534 ^@ NM_001414.3(EIF2B1):c.-135G>C http://identifiers.org/clinvar/298383 ^@ NM_004376.6(COX15):c.*2640T>G http://identifiers.org/clinvar/317425 ^@ NM_018668.4(VPS33B):c.868C>T (p.Arg290Trp) http://identifiers.org/clinvar/298399 ^@ NM_004376.6(COX15):c.*887C>T http://identifiers.org/clinvar/301333 ^@ NM_001080116.1(LDB3):c.548+5G>T http://identifiers.org/clinvar/317431 ^@ NM_018668.4(VPS33B):c.-131G>A http://identifiers.org/clinvar/298402 ^@ NM_004376.6(COX15):c.*620G>A http://identifiers.org/clinvar/317433 ^@ NM_018668.4(VPS33B):c.-269T>C http://identifiers.org/clinvar/298403 ^@ NM_004376.6(COX15):c.*603T>A http://identifiers.org/clinvar/298410 ^@ NM_004376.6(COX15):c.*136T>C http://identifiers.org/clinvar/307535 ^@ NM_001414.3(EIF2B1):c.-144G>C http://identifiers.org/clinvar/317435 ^@ NM_018668.4(VPS33B):c.-299T>G http://identifiers.org/clinvar/307537 ^@ NM_001414.3(EIF2B1):c.-150C>T http://identifiers.org/clinvar/301340 ^@ NM_001080116.1(LDB3):c.*323C>T http://identifiers.org/clinvar/317441 ^@ NM_000875.4(IGF1R):c.864C>T (p.Ala288=) http://identifiers.org/clinvar/307541 ^@ NM_024809.4(TCTN2):c.-95G>A http://identifiers.org/clinvar/298416 ^@ NM_004376.6(COX15):c.582+14A>G http://identifiers.org/clinvar/298417 ^@ NM_004376.6(COX15):c.406G>C (p.Asp136His) http://identifiers.org/clinvar/301342 ^@ NM_001080116.1(LDB3):c.*450G>A http://identifiers.org/clinvar/307543 ^@ NM_024809.4(TCTN2):c.-15C>T http://identifiers.org/clinvar/307546 ^@ NM_024809.4(TCTN2):c.523T>G (p.Leu175Val) http://identifiers.org/clinvar/298422 ^@ NM_004376.6(COX15):c.-26A>G http://identifiers.org/clinvar/317443 ^@ NM_000875.4(IGF1R):c.895C>T (p.His299Tyr) http://identifiers.org/clinvar/317444 ^@ NM_000875.4(IGF1R):c.903C>A (p.Gly301=) http://identifiers.org/clinvar/298425 ^@ NM_004376.6(COX15):c.-114A>G http://identifiers.org/clinvar/298435 ^@ NM_004376.6(COX15):c.-602C>A http://identifiers.org/clinvar/298437 ^@ NM_000392.4(ABCC2):c.-24C>T http://identifiers.org/clinvar/301343 ^@ NM_001080116.1(LDB3):c.*492C>T http://identifiers.org/clinvar/298442 ^@ NM_000392.4(ABCC2):c.732G>A (p.Thr244=) http://identifiers.org/clinvar/307547 ^@ NM_024809.4(TCTN2):c.564+3A>C http://identifiers.org/clinvar/317445 ^@ NM_000875.4(IGF1R):c.1247+10C>T http://identifiers.org/clinvar/317455 ^@ NM_000875.4(IGF1R):c.2868C>T (p.Tyr956=) http://identifiers.org/clinvar/307549 ^@ NM_024809.4(TCTN2):c.588G>A (p.Thr196=) http://identifiers.org/clinvar/317459 ^@ NM_000875.4(IGF1R):c.3925G>A (p.Ala1309Thr) http://identifiers.org/clinvar/307561 ^@ NM_024809.4(TCTN2):c.1886C>G (p.Pro629Arg) http://identifiers.org/clinvar/317461 ^@ NM_000875.4(IGF1R):c.4028G>T (p.Arg1343Ile) http://identifiers.org/clinvar/307567 ^@ NM_024809.4(TCTN2):c.*330_*331insACTC http://identifiers.org/clinvar/298445 ^@ NM_000392.4(ABCC2):c.1032-14C>A http://identifiers.org/clinvar/298453 ^@ NM_000392.4(ABCC2):c.1815+4G>A http://identifiers.org/clinvar/298466 ^@ NM_000392.4(ABCC2):c.3500T>C (p.Val1167Ala) http://identifiers.org/clinvar/307570 ^@ NM_024809.4(TCTN2):c.*587C>T http://identifiers.org/clinvar/307583 ^@ NM_012463.3(ATP6V0A2):c.993C>T (p.Pro331=) http://identifiers.org/clinvar/298467 ^@ NM_000392.4(ABCC2):c.3563T>A (p.Val1188Glu) http://identifiers.org/clinvar/307584 ^@ NM_012463.3(ATP6V0A2):c.1038G>A (p.Ser346=) http://identifiers.org/clinvar/317466 ^@ NM_000875.4(IGF1R):c.*49C>T http://identifiers.org/clinvar/317469 ^@ NM_000875.4(IGF1R):c.*55G>A http://identifiers.org/clinvar/298468 ^@ NM_000392.4(ABCC2):c.3576C>G (p.Thr1192=) http://identifiers.org/clinvar/317470 ^@ NM_000875.4(IGF1R):c.*57G>C http://identifiers.org/clinvar/307586 ^@ NM_012463.3(ATP6V0A2):c.1096C>T (p.Pro366Ser) http://identifiers.org/clinvar/298470 ^@ NM_000392.4(ABCC2):c.3815T>C (p.Ile1272Thr) http://identifiers.org/clinvar/298477 ^@ NM_000392.4(ABCC2):c.4447T>G (p.Phe1483Val) http://identifiers.org/clinvar/301346 ^@ NM_004329.2(BMPR1A):c.-447T>C http://identifiers.org/clinvar/301873 ^@ NM_030962.3(SBF2):c.546G>T (p.Gln182His) http://identifiers.org/clinvar/317468 ^@ NM_000875.4(IGF1R):c.*62dupG http://identifiers.org/clinvar/317475 ^@ NM_000875.4(IGF1R):c.*213C>A http://identifiers.org/clinvar/301347 ^@ NM_004329.2(BMPR1A):c.-349T>C http://identifiers.org/clinvar/301880 ^@ NM_004621.5(TRPC6):c.*1020G>A http://identifiers.org/clinvar/317477 ^@ NM_000875.4(IGF1R):c.*291C>A http://identifiers.org/clinvar/301881 ^@ NM_004621.5(TRPC6):c.*970A>G http://identifiers.org/clinvar/317478 ^@ NM_000875.4(IGF1R):c.*346C>T http://identifiers.org/clinvar/301883 ^@ NM_004621.5(TRPC6):c.*792G>A http://identifiers.org/clinvar/301890 ^@ NM_004621.5(TRPC6):c.*337G>A http://identifiers.org/clinvar/301892 ^@ NM_004621.5(TRPC6):c.*314C>G http://identifiers.org/clinvar/301349 ^@ NM_004329.2(BMPR1A):c.-137A>G http://identifiers.org/clinvar/301350 ^@ NM_004329.2(BMPR1A):c.-25A>G http://identifiers.org/clinvar/301352 ^@ NM_004329.2(BMPR1A):c.1342+6A>G http://identifiers.org/clinvar/301372 ^@ NM_005271.4(GLUD1):c.*1548C>T http://identifiers.org/clinvar/301896 ^@ NM_004621.5(TRPC6):c.*13C>T http://identifiers.org/clinvar/317485 ^@ NM_000875.4(IGF1R):c.*641G>A http://identifiers.org/clinvar/301899 ^@ NM_004621.5(TRPC6):c.2574A>C (p.Ile858=) http://identifiers.org/clinvar/317486 ^@ NM_000875.4(IGF1R):c.*712G>A http://identifiers.org/clinvar/317488 ^@ NM_000875.4(IGF1R):c.*806T>C http://identifiers.org/clinvar/307587 ^@ NM_012463.3(ATP6V0A2):c.1565C>T (p.Pro522Leu) http://identifiers.org/clinvar/307593 ^@ NM_012463.3(ATP6V0A2):c.1872G>A (p.Leu624=) http://identifiers.org/clinvar/317494 ^@ NM_000875.4(IGF1R):c.*1042C>T http://identifiers.org/clinvar/307594 ^@ NM_012463.3(ATP6V0A2):c.2014T>C (p.Leu672=) http://identifiers.org/clinvar/307601 ^@ NM_012463.3(ATP6V0A2):c.*191T>C http://identifiers.org/clinvar/317495 ^@ NM_000875.4(IGF1R):c.*1087A>G http://identifiers.org/clinvar/301377 ^@ NM_005271.4(GLUD1):c.*1270C>T http://identifiers.org/clinvar/301379 ^@ NM_005271.4(GLUD1):c.*1170dupT http://identifiers.org/clinvar/301384 ^@ NM_005271.4(GLUD1):c.*496G>A http://identifiers.org/clinvar/317499 ^@ NM_000875.4(IGF1R):c.*1229G>A http://identifiers.org/clinvar/301900 ^@ NM_004621.5(TRPC6):c.2508T>C (p.Ser836=) http://identifiers.org/clinvar/317502 ^@ NM_000875.4(IGF1R):c.*1262A>C http://identifiers.org/clinvar/317501 ^@ NM_000875.4(IGF1R):c.*1267_*1268delAA http://identifiers.org/clinvar/301903 ^@ NM_004621.5(TRPC6):c.1928T>C (p.Met643Thr) http://identifiers.org/clinvar/317503 ^@ NM_000875.4(IGF1R):c.*1334_*1335delTC http://identifiers.org/clinvar/301386 ^@ NM_005271.4(GLUD1):c.*205A>G http://identifiers.org/clinvar/301393 ^@ NM_005271.4(GLUD1):c.1402+10G>A http://identifiers.org/clinvar/317505 ^@ NM_000875.4(IGF1R):c.*1361T>A http://identifiers.org/clinvar/317506 ^@ NM_000875.4(IGF1R):c.*1425A>C http://identifiers.org/clinvar/317507 ^@ NM_000875.4(IGF1R):c.*1513C>T http://identifiers.org/clinvar/307607 ^@ NM_012463.3(ATP6V0A2):c.*709C>T http://identifiers.org/clinvar/317510 ^@ NM_000875.4(IGF1R):c.*1668C>A http://identifiers.org/clinvar/307608 ^@ NM_012463.3(ATP6V0A2):c.*785T>C http://identifiers.org/clinvar/317511 ^@ NM_000875.4(IGF1R):c.*1681A>G http://identifiers.org/clinvar/307611 ^@ NM_012463.3(ATP6V0A2):c.*1205C>G http://identifiers.org/clinvar/301906 ^@ NM_004621.5(TRPC6):c.1677C>T (p.Asp559=) http://identifiers.org/clinvar/317512 ^@ NM_000875.4(IGF1R):c.*1724C>T http://identifiers.org/clinvar/301908 ^@ NM_004621.5(TRPC6):c.1338C>T (p.His446=) http://identifiers.org/clinvar/301911 ^@ NM_004621.5(TRPC6):c.336A>C (p.Pro112=) http://identifiers.org/clinvar/307612 ^@ NM_012463.3(ATP6V0A2):c.*1252A>G http://identifiers.org/clinvar/317513 ^@ NM_000875.4(IGF1R):c.*1763_*1764dupAT http://identifiers.org/clinvar/307615 ^@ NM_012463.3(ATP6V0A2):c.*1600G>A http://identifiers.org/clinvar/307616 ^@ NM_012463.3(ATP6V0A2):c.*1680C>T http://identifiers.org/clinvar/307630 ^@ NM_012463.3(ATP6V0A2):c.*2485C>T http://identifiers.org/clinvar/301396 ^@ NM_005271.4(GLUD1):c.677T>G (p.Met226Arg) http://identifiers.org/clinvar/301398 ^@ NM_005271.4(GLUD1):c.546T>C (p.Ala182=) http://identifiers.org/clinvar/301913 ^@ NM_004621.5(TRPC6):c.172C>T (p.Arg58Trp) http://identifiers.org/clinvar/301914 ^@ NM_004621.5(TRPC6):c.-10C>A http://identifiers.org/clinvar/301399 ^@ NM_005271.4(GLUD1):c.154C>A (p.His52Asn) http://identifiers.org/clinvar/301402 ^@ NM_005271.4(GLUD1):c.-100A>G http://identifiers.org/clinvar/301410 ^@ NM_000314.6(PTEN):c.-461G>A http://identifiers.org/clinvar/307631 ^@ NM_012463.3(ATP6V0A2):c.*2646A>G http://identifiers.org/clinvar/307633 ^@ NM_012463.3(ATP6V0A2):c.*2877T>A http://identifiers.org/clinvar/301415 ^@ NM_000314.6(PTEN):c.-284C>T http://identifiers.org/clinvar/301418 ^@ NM_000314.6(PTEN):c.-165C>G http://identifiers.org/clinvar/301425 ^@ NM_000314.6(PTEN):c.*124C>T http://identifiers.org/clinvar/307634 ^@ NM_012463.3(ATP6V0A2):c.*2984_*2986delCCT http://identifiers.org/clinvar/301426 ^@ NM_000314.6(PTEN):c.*176delT http://identifiers.org/clinvar/317519 ^@ NM_000875.4(IGF1R):c.*1904G>A http://identifiers.org/clinvar/301429 ^@ NM_000314.6(PTEN):c.*353C>T http://identifiers.org/clinvar/301430 ^@ NM_000314.6(PTEN):c.*421T>C http://identifiers.org/clinvar/317520 ^@ NM_000875.4(IGF1R):c.*1925C>T http://identifiers.org/clinvar/301434 ^@ NM_000314.6(PTEN):c.*601A>G http://identifiers.org/clinvar/301917 ^@ NM_004621.5(TRPC6):c.-143C>T http://identifiers.org/clinvar/301922 ^@ NM_004621.5(TRPC6):c.-319delC http://identifiers.org/clinvar/301439 ^@ NM_000314.6(PTEN):c.*667A>T http://identifiers.org/clinvar/317521 ^@ NM_000875.4(IGF1R):c.*1931C>T http://identifiers.org/clinvar/317525 ^@ NM_000875.4(IGF1R):c.*2064T>A http://identifiers.org/clinvar/317526 ^@ NM_000875.4(IGF1R):c.*2224A>G http://identifiers.org/clinvar/317530 ^@ NM_000875.4(IGF1R):c.*2379T>C http://identifiers.org/clinvar/307635 ^@ NM_012463.3(ATP6V0A2):c.*3000G>A http://identifiers.org/clinvar/307637 ^@ NM_012463.3(ATP6V0A2):c.*3159G>A http://identifiers.org/clinvar/301924 ^@ NM_004621.5(TRPC6):c.-344C>G http://identifiers.org/clinvar/301442 ^@ NM_000314.6(PTEN):c.*790A>G http://identifiers.org/clinvar/301444 ^@ NM_000314.6(PTEN):c.*1119A>T http://identifiers.org/clinvar/307638 ^@ NM_012463.3(ATP6V0A2):c.*3166C>T http://identifiers.org/clinvar/301926 ^@ NM_004621.5(TRPC6):c.-361A>T http://identifiers.org/clinvar/317532 ^@ NM_000875.4(IGF1R):c.*2428_*2431delGTAT http://identifiers.org/clinvar/301445 ^@ NM_000314.6(PTEN):c.*1131delT http://identifiers.org/clinvar/301447 ^@ NM_000314.6(PTEN):c.*1173G>A http://identifiers.org/clinvar/301456 ^@ NM_000314.6(PTEN):c.*1440T>G http://identifiers.org/clinvar/301454 ^@ NM_000314.6(PTEN):c.*1457_*1459delTTT http://identifiers.org/clinvar/301461 ^@ NM_000314.6(PTEN):c.*1460A>T http://identifiers.org/clinvar/301929 ^@ NM_030962.3(SBF2):c.93T>C (p.Phe31=) http://identifiers.org/clinvar/317533 ^@ NM_000875.4(IGF1R):c.*2430_*2431delAT http://identifiers.org/clinvar/307639 ^@ NM_012463.3(ATP6V0A2):c.*3227C>G http://identifiers.org/clinvar/301930 ^@ NM_004771.3(MMP20):c.*484T>C http://identifiers.org/clinvar/301932 ^@ NM_004771.3(MMP20):c.*110A>T http://identifiers.org/clinvar/301460 ^@ NM_000314.6(PTEN):c.*1462delA http://identifiers.org/clinvar/301467 ^@ NM_000314.6(PTEN):c.*1576T>A http://identifiers.org/clinvar/317535 ^@ NM_000875.4(IGF1R):c.*2541_*2542delGT http://identifiers.org/clinvar/301468 ^@ NM_000314.6(PTEN):c.*1583G>A http://identifiers.org/clinvar/301470 ^@ NM_000314.6(PTEN):c.*1620T>C http://identifiers.org/clinvar/301937 ^@ NM_004771.3(MMP20):c.1136C>T (p.Pro379Leu) http://identifiers.org/clinvar/301938 ^@ NM_004771.3(MMP20):c.954-11delA http://identifiers.org/clinvar/301475 ^@ NM_000314.6(PTEN):c.*1945G>A http://identifiers.org/clinvar/301479 ^@ NM_000314.6(PTEN):c.*2061T>A http://identifiers.org/clinvar/307650 ^@ NM_004064.4(CDKN1B):c.-371C>T http://identifiers.org/clinvar/307666 ^@ NM_004064.4(CDKN1B):c.407A>G (p.Asp136Gly) http://identifiers.org/clinvar/301480 ^@ NM_000314.6(PTEN):c.*2110G>T http://identifiers.org/clinvar/307668 ^@ NM_004064.4(CDKN1B):c.476-13C>T http://identifiers.org/clinvar/307670 ^@ NM_004064.4(CDKN1B):c.476-5C>T http://identifiers.org/clinvar/301483 ^@ NM_000314.6(PTEN):c.*2185C>T http://identifiers.org/clinvar/301945 ^@ NM_004771.3(MMP20):c.808T>C (p.Tyr270His) http://identifiers.org/clinvar/317537 ^@ NM_000875.4(IGF1R):c.*2718C>T http://identifiers.org/clinvar/317545 ^@ NM_000875.4(IGF1R):c.*3074G>A http://identifiers.org/clinvar/307671 ^@ NM_004064.4(CDKN1B):c.*9-9C>G http://identifiers.org/clinvar/307682 ^@ NM_004064.4(CDKN1B):c.*554_*558delATCTG http://identifiers.org/clinvar/301950 ^@ NM_004771.3(MMP20):c.454G>A (p.Ala152Thr) http://identifiers.org/clinvar/301952 ^@ NM_004771.3(MMP20):c.383A>C (p.Lys128Thr) http://identifiers.org/clinvar/301484 ^@ NM_000314.6(PTEN):c.*2200C>A http://identifiers.org/clinvar/317555 ^@ NM_000875.4(IGF1R):c.*3445C>T http://identifiers.org/clinvar/301954 ^@ NM_004771.3(MMP20):c.289A>T (p.Lys97Ter) http://identifiers.org/clinvar/317571 ^@ NM_000875.4(IGF1R):c.*4080C>T http://identifiers.org/clinvar/302104 ^@ NM_030962.3(SBF2):c.-106C>T http://identifiers.org/clinvar/317578 ^@ NM_000875.4(IGF1R):c.*4438G>A http://identifiers.org/clinvar/301485 ^@ NM_000314.6(PTEN):c.*2203A>G http://identifiers.org/clinvar/301486 ^@ NM_000314.6(PTEN):c.*2204T>A http://identifiers.org/clinvar/301490 ^@ NM_000314.6(PTEN):c.*2437A>G http://identifiers.org/clinvar/302105 ^@ NM_030962.3(SBF2):c.-118G>T http://identifiers.org/clinvar/301960 ^@ NM_002427.3(MMP13):c.*1007T>C http://identifiers.org/clinvar/307686 ^@ NM_004064.4(CDKN1B):c.*935C>T http://identifiers.org/clinvar/301499 ^@ NM_000314.6(PTEN):c.*2905G>C http://identifiers.org/clinvar/317580 ^@ NM_000875.4(IGF1R):c.*4458C>G http://identifiers.org/clinvar/317588 ^@ NM_000875.4(IGF1R):c.*4645C>T http://identifiers.org/clinvar/301510 ^@ NM_001613.2(ACTA2):c.369+7A>G http://identifiers.org/clinvar/301522 ^@ NM_000043.5(FAS):c.31-9A>G http://identifiers.org/clinvar/301523 ^@ NM_000043.5(FAS):c.33T>A (p.Val11=) http://identifiers.org/clinvar/301526 ^@ NM_000043.5(FAS):c.176G>T (p.Cys59Phe) http://identifiers.org/clinvar/301527 ^@ NM_000043.5(FAS):c.222A>G (p.Thr74=) http://identifiers.org/clinvar/307688 ^@ NM_004064.4(CDKN1B):c.*956C>A http://identifiers.org/clinvar/307694 ^@ NM_025215.5(PUS1):c.-266G>C http://identifiers.org/clinvar/307697 ^@ NM_025215.5(PUS1):c.-182C>T http://identifiers.org/clinvar/301530 ^@ NM_000043.5(FAS):c.550A>G (p.Ile184Val) http://identifiers.org/clinvar/307705 ^@ NM_025215.5(PUS1):c.894C>T (p.Val298=) http://identifiers.org/clinvar/317589 ^@ NM_000875.4(IGF1R):c.*4752G>T http://identifiers.org/clinvar/307709 ^@ NM_025215.5(PUS1):c.*119C>T http://identifiers.org/clinvar/307710 ^@ NM_025215.5(PUS1):c.*120G>A http://identifiers.org/clinvar/301964 ^@ NM_002427.3(MMP13):c.*771T>G http://identifiers.org/clinvar/317594 ^@ NM_000875.4(IGF1R):c.*4816C>T http://identifiers.org/clinvar/317601 ^@ NM_000875.4(IGF1R):c.*5227C>T http://identifiers.org/clinvar/301965 ^@ NM_002427.3(MMP13):c.*756A>G http://identifiers.org/clinvar/301966 ^@ NM_002427.3(MMP13):c.*628A>G http://identifiers.org/clinvar/317610 ^@ NM_000875.4(IGF1R):c.*5571G>A http://identifiers.org/clinvar/301968 ^@ NM_002427.3(MMP13):c.*426A>G http://identifiers.org/clinvar/301970 ^@ NM_002427.3(MMP13):c.*314T>C http://identifiers.org/clinvar/301532 ^@ NM_000043.5(FAS):c.*84G>A http://identifiers.org/clinvar/317612 ^@ NM_000875.4(IGF1R):c.*5693T>G http://identifiers.org/clinvar/301534 ^@ NM_000043.5(FAS):c.*142A>G http://identifiers.org/clinvar/307713 ^@ NM_000834.3(GRIN2B):c.*1230G>C http://identifiers.org/clinvar/317614 ^@ NM_000875.4(IGF1R):c.*5720_*5724delTTTAA http://identifiers.org/clinvar/317618 ^@ NM_000875.4(IGF1R):c.*5736_*5739delTTTT http://identifiers.org/clinvar/307718 ^@ NM_000834.3(GRIN2B):c.*988A>G http://identifiers.org/clinvar/301973 ^@ NM_002427.3(MMP13):c.*160G>A http://identifiers.org/clinvar/317626 ^@ NM_000875.4(IGF1R):c.*5791G>A http://identifiers.org/clinvar/317629 ^@ NM_000875.4(IGF1R):c.*6091C>T http://identifiers.org/clinvar/301538 ^@ NM_000043.5(FAS):c.*566C>G http://identifiers.org/clinvar/301540 ^@ NM_000043.5(FAS):c.*638T>C http://identifiers.org/clinvar/301977 ^@ NM_002427.3(MMP13):c.1123C>T (p.Leu375Phe) http://identifiers.org/clinvar/317630 ^@ NM_000875.4(IGF1R):c.*6092G>A http://identifiers.org/clinvar/317634 ^@ NM_000875.4(IGF1R):c.*6186G>A http://identifiers.org/clinvar/317636 ^@ NM_000875.4(IGF1R):c.*6266_*6268delCAT http://identifiers.org/clinvar/301548 ^@ NM_000235.3(LIPA):c.*1187C>A http://identifiers.org/clinvar/301551 ^@ NM_000235.3(LIPA):c.*1045C>T http://identifiers.org/clinvar/307719 ^@ NM_000834.3(GRIN2B):c.*951G>C http://identifiers.org/clinvar/317638 ^@ NM_000875.4(IGF1R):c.*6307A>G http://identifiers.org/clinvar/307721 ^@ NM_000834.3(GRIN2B):c.*862T>C http://identifiers.org/clinvar/301979 ^@ NM_002427.3(MMP13):c.1080T>C (p.Tyr360=) http://identifiers.org/clinvar/317641 ^@ NM_000875.4(IGF1R):c.*6521dupA http://identifiers.org/clinvar/317645 ^@ NM_000875.4(IGF1R):c.*6631G>C http://identifiers.org/clinvar/317647 ^@ NM_000875.4(IGF1R):c.*6700A>C http://identifiers.org/clinvar/301553 ^@ NM_000235.3(LIPA):c.*949C>T http://identifiers.org/clinvar/301558 ^@ NM_000235.3(LIPA):c.*841C>T http://identifiers.org/clinvar/307725 ^@ NM_000834.3(GRIN2B):c.*342C>T http://identifiers.org/clinvar/307729 ^@ NM_000834.3(GRIN2B):c.*232T>C http://identifiers.org/clinvar/301560 ^@ NM_000235.3(LIPA):c.*804C>T http://identifiers.org/clinvar/301571 ^@ NM_000235.3(LIPA):c.*151C>T http://identifiers.org/clinvar/301573 ^@ NM_000235.3(LIPA):c.1009A>G (p.Thr337Ala) http://identifiers.org/clinvar/317648 ^@ NM_000875.4(IGF1R):c.*6731G>A http://identifiers.org/clinvar/307738 ^@ NM_000834.3(GRIN2B):c.4041C>A (p.Ser1347Arg) http://identifiers.org/clinvar/301982 ^@ NM_002427.3(MMP13):c.951T>G (p.Asp317Glu) http://identifiers.org/clinvar/301579 ^@ NM_000235.3(LIPA):c.616G>A (p.Val206Ile) http://identifiers.org/clinvar/301581 ^@ NM_000235.3(LIPA):c.539-6T>C http://identifiers.org/clinvar/307739 ^@ NM_000834.3(GRIN2B):c.3837T>G (p.Thr1279=) http://identifiers.org/clinvar/317653 ^@ NM_000875.4(IGF1R):c.*6784_*6786delGAA http://identifiers.org/clinvar/307740 ^@ NM_000834.3(GRIN2B):c.3825C>T (p.Asn1275=) http://identifiers.org/clinvar/301985 ^@ NM_002427.3(MMP13):c.799+8G>A http://identifiers.org/clinvar/307742 ^@ NM_000834.3(GRIN2B):c.2890A>G (p.Ser964Gly) http://identifiers.org/clinvar/317655 ^@ NM_000875.4(IGF1R):c.*6793delA http://identifiers.org/clinvar/317656 ^@ NM_000875.4(IGF1R):c.*6875T>C http://identifiers.org/clinvar/307748 ^@ NM_000834.3(GRIN2B):c.1767C>T (p.Leu589=) http://identifiers.org/clinvar/317657 ^@ NM_000875.4(IGF1R):c.*6890A>T http://identifiers.org/clinvar/301987 ^@ NM_002427.3(MMP13):c.770A>T (p.Asp257Val) http://identifiers.org/clinvar/317659 ^@ NM_000875.4(IGF1R):c.*6901G>C http://identifiers.org/clinvar/301995 ^@ NM_001080463.1(DYNC2H1):c.21C>T (p.Asp7=) http://identifiers.org/clinvar/315130 ^@ NM_139057.3(ADAMTS17):c.*2690G>A http://identifiers.org/clinvar/302003 ^@ NM_001080463.1(DYNC2H1):c.539T>C (p.Ile180Thr) http://identifiers.org/clinvar/307749 ^@ NM_000834.3(GRIN2B):c.1569C>T (p.Val523=) http://identifiers.org/clinvar/301596 ^@ NM_014391.2(ANKRD1):c.*570_*574dupTTTTT http://identifiers.org/clinvar/315131 ^@ NM_139057.3(ADAMTS17):c.*2645C>T http://identifiers.org/clinvar/315138 ^@ NM_139057.3(ADAMTS17):c.*2532G>A http://identifiers.org/clinvar/302004 ^@ NM_001080463.1(DYNC2H1):c.645A>G (p.Leu215=) http://identifiers.org/clinvar/315139 ^@ NM_139057.3(ADAMTS17):c.*2528T>C http://identifiers.org/clinvar/315142 ^@ NM_139057.3(ADAMTS17):c.*2472C>T http://identifiers.org/clinvar/315144 ^@ NM_139057.3(ADAMTS17):c.*2379C>T http://identifiers.org/clinvar/302008 ^@ NM_001080463.1(DYNC2H1):c.1021C>T (p.His341Tyr) http://identifiers.org/clinvar/302009 ^@ NM_001080463.1(DYNC2H1):c.1134+8A>G http://identifiers.org/clinvar/307751 ^@ NM_000834.3(GRIN2B):c.1320A>T (p.Ile440=) http://identifiers.org/clinvar/315149 ^@ NM_139057.3(ADAMTS17):c.*2329T>C http://identifiers.org/clinvar/307753 ^@ NM_000834.3(GRIN2B):c.189C>T (p.Ser63=) http://identifiers.org/clinvar/315150 ^@ NM_139057.3(ADAMTS17):c.*2324G>A http://identifiers.org/clinvar/301597 ^@ NM_014391.2(ANKRD1):c.*544_*548delATTTT http://identifiers.org/clinvar/315157 ^@ NM_139057.3(ADAMTS17):c.*2193G>C http://identifiers.org/clinvar/301602 ^@ NM_014391.2(ANKRD1):c.*211_*214delTTTA http://identifiers.org/clinvar/307754 ^@ NM_000834.3(GRIN2B):c.33G>A (p.Lys11=) http://identifiers.org/clinvar/301606 ^@ NM_014391.2(ANKRD1):c.346-12_346-11insATAT http://identifiers.org/clinvar/315159 ^@ NM_139057.3(ADAMTS17):c.*2159_*2160delAG http://identifiers.org/clinvar/301605 ^@ NM_014391.2(ANKRD1):c.346-29_346-12del18 http://identifiers.org/clinvar/301612 ^@ NM_014391.2(ANKRD1):c.-131C>G http://identifiers.org/clinvar/307755 ^@ NM_000834.3(GRIN2B):c.-9G>T http://identifiers.org/clinvar/315163 ^@ NM_139057.3(ADAMTS17):c.*2013T>G http://identifiers.org/clinvar/302017 ^@ NM_001080463.1(DYNC2H1):c.2385C>G (p.Ile795Met) http://identifiers.org/clinvar/315170 ^@ NM_139057.3(ADAMTS17):c.*1780G>A http://identifiers.org/clinvar/315171 ^@ NM_139057.3(ADAMTS17):c.*1779T>C http://identifiers.org/clinvar/315172 ^@ NM_139057.3(ADAMTS17):c.*1774C>T http://identifiers.org/clinvar/302019 ^@ NM_001080463.1(DYNC2H1):c.2470A>G (p.Ile824Val) http://identifiers.org/clinvar/302020 ^@ NM_001080463.1(DYNC2H1):c.2479A>G (p.Ile827Val) http://identifiers.org/clinvar/301613 ^@ NM_014391.2(ANKRD1):c.-145T>C http://identifiers.org/clinvar/315176 ^@ NM_139057.3(ADAMTS17):c.*1749G>A http://identifiers.org/clinvar/301615 ^@ NM_006204.3(PDE6C):c.101G>A (p.Gly34Glu) http://identifiers.org/clinvar/315181 ^@ NM_139057.3(ADAMTS17):c.*1600C>T http://identifiers.org/clinvar/302024 ^@ NM_001080463.1(DYNC2H1):c.3012T>C (p.Gly1004=) http://identifiers.org/clinvar/302033 ^@ NM_001080463.1(DYNC2H1):c.4068C>T (p.Phe1356=) http://identifiers.org/clinvar/302037 ^@ NM_001080463.1(DYNC2H1):c.4611+14C>T http://identifiers.org/clinvar/315186 ^@ NM_139057.3(ADAMTS17):c.*1434_*1436delTCC http://identifiers.org/clinvar/307756 ^@ NM_000900.3(MGP):c.*755G>T http://identifiers.org/clinvar/302048 ^@ NM_001080463.1(DYNC2H1):c.5558+4A>G http://identifiers.org/clinvar/307758 ^@ NM_000900.3(MGP):c.*604A>G http://identifiers.org/clinvar/307766 ^@ NM_000900.3(MGP):c.*251T>C http://identifiers.org/clinvar/301621 ^@ NM_006204.3(PDE6C):c.503T>A (p.Met168Lys) http://identifiers.org/clinvar/315192 ^@ NM_139057.3(ADAMTS17):c.*1243C>T http://identifiers.org/clinvar/301622 ^@ NM_006204.3(PDE6C):c.542C>T (p.Ala181Val) http://identifiers.org/clinvar/301623 ^@ NM_006204.3(PDE6C):c.623A>G (p.Gln208Arg) http://identifiers.org/clinvar/301628 ^@ NM_006204.3(PDE6C):c.986A>C (p.Glu329Ala) http://identifiers.org/clinvar/315202 ^@ NM_139057.3(ADAMTS17):c.*1011_*1016delACAAGC http://identifiers.org/clinvar/315205 ^@ NM_139057.3(ADAMTS17):c.*966G>T http://identifiers.org/clinvar/302052 ^@ NM_001080463.1(DYNC2H1):c.6139+7C>T http://identifiers.org/clinvar/315206 ^@ NM_139057.3(ADAMTS17):c.*960G>A http://identifiers.org/clinvar/315220 ^@ NM_139057.3(ADAMTS17):c.*612G>T http://identifiers.org/clinvar/315221 ^@ NM_139057.3(ADAMTS17):c.*567G>C http://identifiers.org/clinvar/307770 ^@ NM_000900.3(MGP):c.234T>C (p.Leu78=) http://identifiers.org/clinvar/307771 ^@ NM_000900.3(MGP):c.207T>C (p.Asn69=) http://identifiers.org/clinvar/307774 ^@ NM_000900.3(MGP):c.62-9delT http://identifiers.org/clinvar/302059 ^@ NM_001080463.1(DYNC2H1):c.7032T>A (p.Arg2344=) http://identifiers.org/clinvar/315224 ^@ NM_139057.3(ADAMTS17):c.*510C>T http://identifiers.org/clinvar/302065 ^@ NM_001080463.1(DYNC2H1):c.7840-6dupT http://identifiers.org/clinvar/307775 ^@ NM_000900.3(MGP):c.46G>A (p.Val16Ile) http://identifiers.org/clinvar/307776 ^@ NM_000900.3(MGP):c.-63G>A http://identifiers.org/clinvar/307788 ^@ NM_006205.2(PDE6H):c.*319T>C http://identifiers.org/clinvar/315230 ^@ NM_139057.3(ADAMTS17):c.*429A>C http://identifiers.org/clinvar/301633 ^@ NM_006204.3(PDE6C):c.1505G>A (p.Arg502His) http://identifiers.org/clinvar/302071 ^@ NM_001080463.1(DYNC2H1):c.8473A>G (p.Ser2825Gly) http://identifiers.org/clinvar/302072 ^@ NM_001080463.1(DYNC2H1):c.8580A>G (p.Glu2860=) http://identifiers.org/clinvar/315236 ^@ NM_139057.3(ADAMTS17):c.*316T>C http://identifiers.org/clinvar/315240 ^@ NM_139057.3(ADAMTS17):c.*189G>C http://identifiers.org/clinvar/315245 ^@ NM_139057.3(ADAMTS17):c.*82G>A http://identifiers.org/clinvar/302075 ^@ NM_001080463.1(DYNC2H1):c.8833-3T>C http://identifiers.org/clinvar/302076 ^@ NM_001080463.1(DYNC2H1):c.8946+10A>C http://identifiers.org/clinvar/301638 ^@ NM_006204.3(PDE6C):c.2144+15T>C http://identifiers.org/clinvar/315246 ^@ NM_139057.3(ADAMTS17):c.*46C>G http://identifiers.org/clinvar/315251 ^@ NM_139057.3(ADAMTS17):c.3144A>G (p.Lys1048=) http://identifiers.org/clinvar/301650 ^@ NM_005097.3(LGI1):c.-304C>T http://identifiers.org/clinvar/302079 ^@ NM_001080463.1(DYNC2H1):c.9231+12G>A http://identifiers.org/clinvar/307790 ^@ NM_006205.2(PDE6H):c.*369A>G http://identifiers.org/clinvar/302080 ^@ NM_001080463.1(DYNC2H1):c.9353+7G>A http://identifiers.org/clinvar/315253 ^@ NM_139057.3(ADAMTS17):c.3128-12C>T http://identifiers.org/clinvar/315256 ^@ NM_139057.3(ADAMTS17):c.3068G>A (p.Cys1023Tyr) http://identifiers.org/clinvar/302081 ^@ NM_001080463.1(DYNC2H1):c.9577A>G (p.Ile3193Val) http://identifiers.org/clinvar/302082 ^@ NM_001080463.1(DYNC2H1):c.9867T>C (p.Asp3289=) http://identifiers.org/clinvar/302086 ^@ NM_001080463.1(DYNC2H1):c.10064-7T>A http://identifiers.org/clinvar/315258 ^@ NM_139057.3(ADAMTS17):c.2923G>A (p.Glu975Lys) http://identifiers.org/clinvar/302094 ^@ NM_001080463.1(DYNC2H1):c.10512G>C (p.Glu3504Asp) http://identifiers.org/clinvar/301651 ^@ NM_005097.3(LGI1):c.-280G>C http://identifiers.org/clinvar/315261 ^@ NM_139057.3(ADAMTS17):c.2700G>A (p.Thr900=) http://identifiers.org/clinvar/301656 ^@ NM_005097.3(LGI1):c.818G>A (p.Arg273Gln) http://identifiers.org/clinvar/301664 ^@ NM_005097.3(LGI1):c.*338G>C http://identifiers.org/clinvar/302098 ^@ NM_001080463.1(DYNC2H1):c.10869T>G (p.Ser3623=) http://identifiers.org/clinvar/317672 ^@ NM_000246.3(CIITA):c.-82G>A http://identifiers.org/clinvar/301666 ^@ NM_016341.3(PLCE1):c.-558A>G http://identifiers.org/clinvar/317673 ^@ NM_000246.3(CIITA):c.-46G>A http://identifiers.org/clinvar/302099 ^@ NM_001080463.1(DYNC2H1):c.10897G>A (p.Val3633Met) http://identifiers.org/clinvar/302113 ^@ NM_001080463.1(DYNC2H1):c.11700A>C (p.Leu3900Phe) http://identifiers.org/clinvar/307792 ^@ NM_172364.4(CACNA2D4):c.*1624G>C http://identifiers.org/clinvar/317675 ^@ NM_000246.3(CIITA):c.147C>T (p.His49=) http://identifiers.org/clinvar/307793 ^@ NM_172364.4(CACNA2D4):c.*1621G>C http://identifiers.org/clinvar/301672 ^@ NM_016341.3(PLCE1):c.-287G>A http://identifiers.org/clinvar/317679 ^@ NM_000246.3(CIITA):c.384C>T (p.Ile128=) http://identifiers.org/clinvar/301680 ^@ NM_016341.3(PLCE1):c.227C>A (p.Ala76Glu) http://identifiers.org/clinvar/301681 ^@ NM_016341.3(PLCE1):c.296C>T (p.Ala99Val) http://identifiers.org/clinvar/301686 ^@ NM_016341.3(PLCE1):c.633C>T (p.Asp211=) http://identifiers.org/clinvar/302114 ^@ NM_001080463.1(DYNC2H1):c.11724C>T (p.Asn3908=) http://identifiers.org/clinvar/301698 ^@ NM_016341.3(PLCE1):c.1461T>C (p.Phe487=) http://identifiers.org/clinvar/307795 ^@ NM_172364.4(CACNA2D4):c.*1613T>C http://identifiers.org/clinvar/307802 ^@ NM_172364.4(CACNA2D4):c.*1403C>G http://identifiers.org/clinvar/301699 ^@ NM_016341.3(PLCE1):c.1495C>T (p.Arg499Cys) http://identifiers.org/clinvar/301701 ^@ NM_016341.3(PLCE1):c.1698T>A (p.Pro566=) http://identifiers.org/clinvar/307807 ^@ NM_172364.4(CACNA2D4):c.*1334A>G http://identifiers.org/clinvar/307815 ^@ NM_172364.4(CACNA2D4):c.*1078delG http://identifiers.org/clinvar/307818 ^@ NM_172364.4(CACNA2D4):c.*783A>G http://identifiers.org/clinvar/302115 ^@ NM_001080463.1(DYNC2H1):c.11950A>C (p.Ile3984Leu) http://identifiers.org/clinvar/307819 ^@ NM_172364.4(CACNA2D4):c.*657G>A http://identifiers.org/clinvar/317680 ^@ NM_000246.3(CIITA):c.456G>A (p.Pro152=) http://identifiers.org/clinvar/307824 ^@ NM_172364.4(CACNA2D4):c.*425G>A http://identifiers.org/clinvar/302119 ^@ NM_001080463.1(DYNC2H1):c.12337T>G (p.Leu4113Val) http://identifiers.org/clinvar/317682 ^@ NM_000246.3(CIITA):c.492C>G (p.Pro164=) http://identifiers.org/clinvar/302131 ^@ NM_001080463.1(DYNC2H1):c.12886G>C (p.Gly4296Arg) http://identifiers.org/clinvar/317684 ^@ NM_000246.3(CIITA):c.772+8C>T http://identifiers.org/clinvar/317689 ^@ NM_000246.3(CIITA):c.1215G>T (p.Lys405Asn) http://identifiers.org/clinvar/307835 ^@ NM_172364.4(CACNA2D4):c.3206A>T (p.Gln1069Leu) http://identifiers.org/clinvar/307836 ^@ NM_172364.4(CACNA2D4):c.3038C>T (p.Thr1013Met) http://identifiers.org/clinvar/307837 ^@ NM_172364.4(CACNA2D4):c.2922-9G>A http://identifiers.org/clinvar/301702 ^@ NM_016341.3(PLCE1):c.2214+7C>T http://identifiers.org/clinvar/301706 ^@ NM_016341.3(PLCE1):c.2598G>C (p.Thr866=) http://identifiers.org/clinvar/307839 ^@ NM_172364.4(CACNA2D4):c.2870C>T (p.Pro957Leu) http://identifiers.org/clinvar/317690 ^@ NM_000246.3(CIITA):c.1241G>A (p.Arg414Gln) http://identifiers.org/clinvar/301711 ^@ NM_016341.3(PLCE1):c.3183C>T (p.Pro1061=) http://identifiers.org/clinvar/317692 ^@ NM_000246.3(CIITA):c.1376C>T (p.Pro459Leu) http://identifiers.org/clinvar/317695 ^@ NM_000246.3(CIITA):c.1518G>A (p.Ala506=) http://identifiers.org/clinvar/317696 ^@ NM_000246.3(CIITA):c.1542G>A (p.Thr514=) http://identifiers.org/clinvar/301712 ^@ NM_016341.3(PLCE1):c.3279+4G>T http://identifiers.org/clinvar/301713 ^@ NM_016341.3(PLCE1):c.3279+12T>C http://identifiers.org/clinvar/302135 ^@ NM_001080463.1(DYNC2H1):c.*388A>T http://identifiers.org/clinvar/317700 ^@ NM_000246.3(CIITA):c.1971G>T (p.Leu657=) http://identifiers.org/clinvar/301715 ^@ NM_016341.3(PLCE1):c.3579C>T (p.His1193=) http://identifiers.org/clinvar/302136 ^@ NM_001080463.1(DYNC2H1):c.*558T>C http://identifiers.org/clinvar/301720 ^@ NM_016341.3(PLCE1):c.4341G>C (p.Met1447Ile) http://identifiers.org/clinvar/317701 ^@ NM_000246.3(CIITA):c.1973C>G (p.Ala658Gly) http://identifiers.org/clinvar/317713 ^@ NM_000246.3(CIITA):c.2472C>T (p.His824=) http://identifiers.org/clinvar/307844 ^@ NM_172364.4(CACNA2D4):c.2606C>T (p.Thr869Met) http://identifiers.org/clinvar/307846 ^@ NM_172364.4(CACNA2D4):c.2524G>A (p.Val842Met) http://identifiers.org/clinvar/301721 ^@ NM_016341.3(PLCE1):c.4412G>A (p.Arg1471His) http://identifiers.org/clinvar/317715 ^@ NM_000246.3(CIITA):c.2620G>T (p.Gly874Trp) http://identifiers.org/clinvar/317716 ^@ NM_000246.3(CIITA):c.2651G>A (p.Arg884His) http://identifiers.org/clinvar/301729 ^@ NM_016341.3(PLCE1):c.5175T>C (p.Cys1725=) http://identifiers.org/clinvar/301732 ^@ NM_016341.3(PLCE1):c.5840C>T (p.Ala1947Val) http://identifiers.org/clinvar/317717 ^@ NM_000246.3(CIITA):c.2676G>A (p.Thr892=) http://identifiers.org/clinvar/301733 ^@ NM_016341.3(PLCE1):c.6364G>A (p.Val2122Ile) http://identifiers.org/clinvar/302143 ^@ NM_001025389.1(AMPD3):c.-88G>T http://identifiers.org/clinvar/317718 ^@ NM_000246.3(CIITA):c.2699A>G (p.Gln900Arg) http://identifiers.org/clinvar/301734 ^@ NM_016341.3(PLCE1):c.6720+10A>G http://identifiers.org/clinvar/307849 ^@ NM_172364.4(CACNA2D4):c.2373C>T (p.Ser791=) http://identifiers.org/clinvar/302145 ^@ NM_001025389.1(AMPD3):c.-48_-43delCAGCGC http://identifiers.org/clinvar/302150 ^@ NM_001025389.1(AMPD3):c.353C>T (p.Ser118Phe) http://identifiers.org/clinvar/302162 ^@ NM_001025389.1(AMPD3):c.960G>A (p.Ala320=) http://identifiers.org/clinvar/317719 ^@ NM_000246.3(CIITA):c.2709G>A (p.Gly903=) http://identifiers.org/clinvar/302166 ^@ NM_001025389.1(AMPD3):c.1131C>T (p.His377=) http://identifiers.org/clinvar/302171 ^@ NM_001025389.1(AMPD3):c.1452G>A (p.Lys484=) http://identifiers.org/clinvar/307850 ^@ NM_172364.4(CACNA2D4):c.2246+11G>A http://identifiers.org/clinvar/317721 ^@ NM_000246.3(CIITA):c.2924A>G (p.Lys975Arg) http://identifiers.org/clinvar/307857 ^@ NM_172364.4(CACNA2D4):c.1711C>T (p.Arg571Trp) http://identifiers.org/clinvar/302175 ^@ NM_001025389.1(AMPD3):c.1689T>C (p.Tyr563=) http://identifiers.org/clinvar/307864 ^@ NM_172364.4(CACNA2D4):c.1239G>T (p.Pro413=) http://identifiers.org/clinvar/307865 ^@ NM_172364.4(CACNA2D4):c.1068+12C>T http://identifiers.org/clinvar/307866 ^@ NM_172364.4(CACNA2D4):c.837C>T (p.Arg279=) http://identifiers.org/clinvar/307868 ^@ NM_172364.4(CACNA2D4):c.684A>C (p.Glu228Asp) http://identifiers.org/clinvar/317723 ^@ NM_000246.3(CIITA):c.3123G>C (p.Ser1041=) http://identifiers.org/clinvar/317725 ^@ NM_000246.3(CIITA):c.3171C>T (p.Cys1057=) http://identifiers.org/clinvar/302176 ^@ NM_001025389.1(AMPD3):c.1728C>T (p.Arg576=) http://identifiers.org/clinvar/301735 ^@ NM_016341.3(PLCE1):c.*28A>G http://identifiers.org/clinvar/317729 ^@ NM_000246.3(CIITA):c.*125C>T http://identifiers.org/clinvar/317730 ^@ NM_000246.3(CIITA):c.*157C>T http://identifiers.org/clinvar/301742 ^@ NM_016341.3(PLCE1):c.*390A>G http://identifiers.org/clinvar/317735 ^@ NM_000246.3(CIITA):c.*307G>A http://identifiers.org/clinvar/317738 ^@ NM_000246.3(CIITA):c.*465G>A http://identifiers.org/clinvar/317739 ^@ NM_000246.3(CIITA):c.*493T>C http://identifiers.org/clinvar/302177 ^@ NM_001025389.1(AMPD3):c.2289C>T (p.Thr763=) http://identifiers.org/clinvar/302183 ^@ NM_001025389.1(AMPD3):c.*1031_*1032dupGT http://identifiers.org/clinvar/302184 ^@ NM_001025389.1(AMPD3):c.*1052A>G http://identifiers.org/clinvar/301746 ^@ NM_002860.3(ALDH18A1):c.*699C>T http://identifiers.org/clinvar/301747 ^@ NM_002860.3(ALDH18A1):c.*698G>A http://identifiers.org/clinvar/307874 ^@ NM_172364.4(CACNA2D4):c.-54G>A http://identifiers.org/clinvar/307878 ^@ NM_172364.4(CACNA2D4):c.-151G>T http://identifiers.org/clinvar/317750 ^@ NM_000246.3(CIITA):c.*1092C>T http://identifiers.org/clinvar/307973 ^@ NM_000719.6(CACNA1C):c.-214A>G http://identifiers.org/clinvar/317751 ^@ NM_004862.3(LITAF):c.*1870C>T http://identifiers.org/clinvar/302201 ^@ NM_000019.3(ACAT1):c.770A>C (p.Lys257Thr) http://identifiers.org/clinvar/302204 ^@ NM_000019.3(ACAT1):c.978A>C (p.Pro326=) http://identifiers.org/clinvar/302208 ^@ NM_000019.3(ACAT1):c.1217A>G (p.Glu406Gly) http://identifiers.org/clinvar/317754 ^@ NM_004862.3(LITAF):c.*1557C>A http://identifiers.org/clinvar/302209 ^@ NM_000019.3(ACAT1):c.1222G>C (p.Gly408Arg) http://identifiers.org/clinvar/302211 ^@ NM_000019.3(ACAT1):c.*55T>C http://identifiers.org/clinvar/302214 ^@ NM_000019.3(ACAT1):c.*179T>G http://identifiers.org/clinvar/307975 ^@ NM_000719.6(CACNA1C):c.13A>C (p.Asn5His) http://identifiers.org/clinvar/302215 ^@ NM_000019.3(ACAT1):c.*214G>C http://identifiers.org/clinvar/307885 ^@ NM_019844.3(SLCO1B3):c.108C>G (p.Phe36Leu) http://identifiers.org/clinvar/301748 ^@ NM_002860.3(ALDH18A1):c.*466T>G http://identifiers.org/clinvar/302218 ^@ NM_000019.3(ACAT1):c.*258G>A http://identifiers.org/clinvar/307886 ^@ NM_019844.3(SLCO1B3):c.335C>A (p.Ser112Tyr) http://identifiers.org/clinvar/302220 ^@ NM_000019.3(ACAT1):c.*293A>T http://identifiers.org/clinvar/302225 ^@ NM_000019.3(ACAT1):c.*507G>A http://identifiers.org/clinvar/302229 ^@ NM_000019.3(ACAT1):c.*599A>C http://identifiers.org/clinvar/317756 ^@ NM_004862.3(LITAF):c.*1415C>A http://identifiers.org/clinvar/307887 ^@ NM_019844.3(SLCO1B3):c.439A>G (p.Thr147Ala) http://identifiers.org/clinvar/307888 ^@ NM_019844.3(SLCO1B3):c.471A>G (p.Ile157Met) http://identifiers.org/clinvar/307890 ^@ NM_019844.3(SLCO1B3):c.542G>A (p.Arg181His) http://identifiers.org/clinvar/302232 ^@ NM_000019.3(ACAT1):c.*753C>T http://identifiers.org/clinvar/317770 ^@ NM_004862.3(LITAF):c.*582dupT http://identifiers.org/clinvar/302235 ^@ NM_000051.3(ATM):c.-235delC http://identifiers.org/clinvar/301749 ^@ NM_002860.3(ALDH18A1):c.*412T>C http://identifiers.org/clinvar/301753 ^@ NM_002860.3(ALDH18A1):c.*155G>A http://identifiers.org/clinvar/301754 ^@ NM_002860.3(ALDH18A1):c.*140C>T http://identifiers.org/clinvar/307891 ^@ NM_019844.3(SLCO1B3):c.592G>A (p.Asp198Asn) http://identifiers.org/clinvar/317774 ^@ NM_004862.3(LITAF):c.*294A>T http://identifiers.org/clinvar/317777 ^@ NM_004862.3(LITAF):c.*99C>T http://identifiers.org/clinvar/317779 ^@ NM_004862.3(LITAF):c.*37G>C http://identifiers.org/clinvar/307893 ^@ NM_019844.3(SLCO1B3):c.676C>G (p.Leu226Val) http://identifiers.org/clinvar/307894 ^@ NM_019844.3(SLCO1B3):c.727+10A>G http://identifiers.org/clinvar/307899 ^@ NM_019844.3(SLCO1B3):c.1004A>G (p.Asn335Ser) http://identifiers.org/clinvar/301756 ^@ NM_002860.3(ALDH18A1):c.2207-3C>T http://identifiers.org/clinvar/301761 ^@ NM_002860.3(ALDH18A1):c.1977C>T (p.Ser659=) http://identifiers.org/clinvar/302239 ^@ NM_000051.3(ATM):c.-186G>A http://identifiers.org/clinvar/301769 ^@ NM_002860.3(ALDH18A1):c.1153-13A>G http://identifiers.org/clinvar/302245 ^@ NM_000051.3(ATM):c.2251-14T>A http://identifiers.org/clinvar/307902 ^@ NM_019844.3(SLCO1B3):c.1272A>G (p.Leu424=) http://identifiers.org/clinvar/301780 ^@ NM_002860.3(ALDH18A1):c.-67C>T http://identifiers.org/clinvar/317785 ^@ NM_004862.3(LITAF):c.158G>C (p.Gly53Ala) http://identifiers.org/clinvar/317786 ^@ NM_004862.3(LITAF):c.147G>A (p.Thr49=) http://identifiers.org/clinvar/307915 ^@ NM_019844.3(SLCO1B3):c.1992A>C (p.Lys664Asn) http://identifiers.org/clinvar/307921 ^@ NM_019844.3(SLCO1B3):c.*355dupA http://identifiers.org/clinvar/307927 ^@ NM_019844.3(SLCO1B3):c.*610A>G http://identifiers.org/clinvar/308052 ^@ NM_000719.6(CACNA1C):c.300G>A (p.Pro100=) http://identifiers.org/clinvar/317795 ^@ NM_004862.3(LITAF):c.-220_-219insT http://identifiers.org/clinvar/307935 ^@ NM_006446.4(SLCO1B1):c.360-15G>A http://identifiers.org/clinvar/317803 ^@ NM_032520.4(GNPTG):c.6G>T (p.Ala2=) http://identifiers.org/clinvar/301783 ^@ NM_002860.3(ALDH18A1):c.-162A>G http://identifiers.org/clinvar/301788 ^@ NM_138413.3(HOGA1):c.39G>A (p.Gly13=) http://identifiers.org/clinvar/301793 ^@ NM_138413.3(HOGA1):c.700+9C>T http://identifiers.org/clinvar/302249 ^@ NM_000051.3(ATM):c.4299T>C (p.Tyr1433=) http://identifiers.org/clinvar/317894 ^@ NM_032520.4(GNPTG):c.835T>G (p.Leu279Val) http://identifiers.org/clinvar/302257 ^@ NM_000051.3(ATM):c.*222C>T http://identifiers.org/clinvar/301795 ^@ NM_138413.3(HOGA1):c.752G>C (p.Cys251Ser) http://identifiers.org/clinvar/307937 ^@ NM_006446.4(SLCO1B1):c.463C>A (p.Pro155Thr) http://identifiers.org/clinvar/302272 ^@ NM_000051.3(ATM):c.*1604C>T http://identifiers.org/clinvar/302276 ^@ NM_000051.3(ATM):c.*1960delT http://identifiers.org/clinvar/307939 ^@ NM_006446.4(SLCO1B1):c.633A>G (p.Ile211Met) http://identifiers.org/clinvar/317896 ^@ NM_032520.4(GNPTG):c.*27C>T http://identifiers.org/clinvar/317898 ^@ NM_032520.4(GNPTG):c.*112_*116delACAAA http://identifiers.org/clinvar/307941 ^@ NM_006446.4(SLCO1B1):c.728-17_728-14delATAA http://identifiers.org/clinvar/307943 ^@ NM_006446.4(SLCO1B1):c.882G>A (p.Leu294=) http://identifiers.org/clinvar/307945 ^@ NM_006446.4(SLCO1B1):c.1135+14T>G http://identifiers.org/clinvar/301796 ^@ NM_138413.3(HOGA1):c.777G>A (p.Thr259=) http://identifiers.org/clinvar/307952 ^@ NM_006446.4(SLCO1B1):c.1452C>T (p.Pro484=) http://identifiers.org/clinvar/317900 ^@ NM_032520.4(GNPTG):c.*224T>C http://identifiers.org/clinvar/307962 ^@ NM_006446.4(SLCO1B1):c.*46T>G http://identifiers.org/clinvar/301800 ^@ NM_138413.3(HOGA1):c.*186C>A http://identifiers.org/clinvar/301806 ^@ NM_138413.3(HOGA1):c.*292C>T http://identifiers.org/clinvar/302277 ^@ NM_000051.3(ATM):c.*2080C>T http://identifiers.org/clinvar/317901 ^@ NM_032520.4(GNPTG):c.*257dupA http://identifiers.org/clinvar/317798 ^@ NM_005236.2(ERCC4):c.105C>T (p.Cys35=) http://identifiers.org/clinvar/302279 ^@ NM_000051.3(ATM):c.*2220A>G http://identifiers.org/clinvar/302283 ^@ NM_000051.3(ATM):c.*2563C>T http://identifiers.org/clinvar/307967 ^@ NM_006446.4(SLCO1B1):c.*439T>G http://identifiers.org/clinvar/317799 ^@ NM_005236.2(ERCC4):c.275T>G (p.Ile92Ser) http://identifiers.org/clinvar/307977 ^@ NM_021957.3(GYS2):c.*684C>T http://identifiers.org/clinvar/301809 ^@ NM_138413.3(HOGA1):c.*353_*354dupTT http://identifiers.org/clinvar/307979 ^@ NM_021957.3(GYS2):c.*567delA http://identifiers.org/clinvar/317806 ^@ NM_005236.2(ERCC4):c.891T>C (p.Tyr297=) http://identifiers.org/clinvar/317807 ^@ NM_005236.2(ERCC4):c.935C>G (p.Ser312Cys) http://identifiers.org/clinvar/307984 ^@ NM_021957.3(GYS2):c.*237T>C http://identifiers.org/clinvar/307992 ^@ NM_021957.3(GYS2):c.1549G>C (p.Ala517Pro) http://identifiers.org/clinvar/307995 ^@ NM_021957.3(GYS2):c.1230-5T>G http://identifiers.org/clinvar/302284 ^@ NM_000051.3(ATM):c.*2607T>C http://identifiers.org/clinvar/317814 ^@ NM_005236.2(ERCC4):c.1647A>C (p.Glu549Asp) http://identifiers.org/clinvar/302287 ^@ NM_000051.3(ATM):c.*2865G>A http://identifiers.org/clinvar/302289 ^@ NM_000051.3(ATM):c.*2935C>G http://identifiers.org/clinvar/302290 ^@ NM_000051.3(ATM):c.*2957G>C http://identifiers.org/clinvar/301811 ^@ NM_138413.3(HOGA1):c.*354dupT http://identifiers.org/clinvar/301814 ^@ NM_138413.3(HOGA1):c.*383_*384delAG http://identifiers.org/clinvar/301815 ^@ NM_138413.3(HOGA1):c.*425T>C http://identifiers.org/clinvar/302291 ^@ NM_000051.3(ATM):c.*3022C>G http://identifiers.org/clinvar/301817 ^@ NM_138413.3(HOGA1):c.*485C>T http://identifiers.org/clinvar/307999 ^@ NM_021957.3(GYS2):c.942-6T>C http://identifiers.org/clinvar/308001 ^@ NM_021957.3(GYS2):c.942-12G>A http://identifiers.org/clinvar/301821 ^@ NM_138413.3(HOGA1):c.*711G>A http://identifiers.org/clinvar/301828 ^@ NM_001002261.3(ZFYVE27):c.32C>T (p.Pro11Leu) http://identifiers.org/clinvar/302292 ^@ NM_000051.3(ATM):c.*3072C>T http://identifiers.org/clinvar/301829 ^@ NM_001002261.3(ZFYVE27):c.79C>G (p.Pro27Ala) http://identifiers.org/clinvar/302299 ^@ NM_000051.3(ATM):c.*3393G>T http://identifiers.org/clinvar/308005 ^@ NM_021957.3(GYS2):c.627T>A (p.Leu209=) http://identifiers.org/clinvar/301833 ^@ NM_001002261.3(ZFYVE27):c.508G>A (p.Ala170Thr) http://identifiers.org/clinvar/302301 ^@ NM_002906.3(RDX):c.*2057T>C http://identifiers.org/clinvar/308006 ^@ NM_021957.3(GYS2):c.612C>A (p.Thr204=) http://identifiers.org/clinvar/301836 ^@ NM_001002261.3(ZFYVE27):c.797C>T (p.Pro266Leu) http://identifiers.org/clinvar/302302 ^@ NM_002906.3(RDX):c.*2006A>G http://identifiers.org/clinvar/308010 ^@ NM_021957.3(GYS2):c.279C>T (p.Asp93=) http://identifiers.org/clinvar/308012 ^@ NM_021957.3(GYS2):c.-219T>G http://identifiers.org/clinvar/308026 ^@ NM_002300.7(LDHB):c.375C>T (p.Ile125=) http://identifiers.org/clinvar/302304 ^@ NM_002906.3(RDX):c.*1955A>G http://identifiers.org/clinvar/301838 ^@ NM_001002261.3(ZFYVE27):c.929C>T (p.Ala310Val) http://identifiers.org/clinvar/308034 ^@ NM_005691.3(ABCC9):c.3556C>T (p.Arg1186Trp) http://identifiers.org/clinvar/308041 ^@ NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) http://identifiers.org/clinvar/301839 ^@ NM_001002261.3(ZFYVE27):c.1104+3G>A http://identifiers.org/clinvar/308042 ^@ NM_005691.3(ABCC9):c.1165-4delG http://identifiers.org/clinvar/308044 ^@ NM_005691.3(ABCC9):c.842G>A (p.Arg281Gln) http://identifiers.org/clinvar/308047 ^@ NM_005691.3(ABCC9):c.366T>C (p.Tyr122=) http://identifiers.org/clinvar/308049 ^@ NM_005691.3(ABCC9):c.75T>C (p.Phe25=) http://identifiers.org/clinvar/308129 ^@ NM_000719.6(CACNA1C):c.567C>T (p.Ala189=) http://identifiers.org/clinvar/308131 ^@ NM_000719.6(CACNA1C):c.906G>A (p.Glu302=) http://identifiers.org/clinvar/308054 ^@ NM_004985.4(KRAS):c.*4498T>C http://identifiers.org/clinvar/317818 ^@ NM_005236.2(ERCC4):c.1942G>A (p.Gly648Ser) http://identifiers.org/clinvar/317820 ^@ NM_005236.2(ERCC4):c.2266G>A (p.Val756Met) http://identifiers.org/clinvar/317822 ^@ NM_005236.2(ERCC4):c.2334G>C (p.Glu778Asp) http://identifiers.org/clinvar/301843 ^@ NM_001002261.3(ZFYVE27):c.*163C>G http://identifiers.org/clinvar/317825 ^@ NM_005236.2(ERCC4):c.*150T>C http://identifiers.org/clinvar/317826 ^@ NM_005236.2(ERCC4):c.*192T>C http://identifiers.org/clinvar/308056 ^@ NM_004985.4(KRAS):c.*4428G>C http://identifiers.org/clinvar/308064 ^@ NM_004985.4(KRAS):c.*3901A>C http://identifiers.org/clinvar/308067 ^@ NM_004985.4(KRAS):c.*3754_*3757delATCT http://identifiers.org/clinvar/308072 ^@ NM_004985.4(KRAS):c.*3502T>A http://identifiers.org/clinvar/301844 ^@ NM_001002261.3(ZFYVE27):c.*163C>T http://identifiers.org/clinvar/317831 ^@ NM_005236.2(ERCC4):c.*539G>A http://identifiers.org/clinvar/301846 ^@ NM_001002261.3(ZFYVE27):c.*248T>C http://identifiers.org/clinvar/302305 ^@ NM_002906.3(RDX):c.*1579A>G http://identifiers.org/clinvar/301851 ^@ NM_001002261.3(ZFYVE27):c.*778C>T http://identifiers.org/clinvar/317832 ^@ NM_005236.2(ERCC4):c.*558A>C http://identifiers.org/clinvar/301852 ^@ NM_001002261.3(ZFYVE27):c.*894G>C http://identifiers.org/clinvar/302307 ^@ NM_002906.3(RDX):c.*1311_*1314dupGAGA http://identifiers.org/clinvar/317838 ^@ NM_005236.2(ERCC4):c.*859A>C http://identifiers.org/clinvar/317840 ^@ NM_005236.2(ERCC4):c.*947T>C http://identifiers.org/clinvar/317841 ^@ NM_005236.2(ERCC4):c.*971C>G http://identifiers.org/clinvar/308073 ^@ NM_004985.4(KRAS):c.*3499C>T http://identifiers.org/clinvar/308076 ^@ NM_004985.4(KRAS):c.*3377C>T http://identifiers.org/clinvar/302311 ^@ NM_002906.3(RDX):c.*1288_*1291delGTAC http://identifiers.org/clinvar/317851 ^@ NM_005236.2(ERCC4):c.*2139A>C http://identifiers.org/clinvar/302315 ^@ NM_002906.3(RDX):c.*1290A>G http://identifiers.org/clinvar/308083 ^@ NM_004985.4(KRAS):c.*2694C>T http://identifiers.org/clinvar/302317 ^@ NM_002906.3(RDX):c.*1289_*1290insTTGTGT http://identifiers.org/clinvar/317853 ^@ NM_005236.2(ERCC4):c.*2180G>A http://identifiers.org/clinvar/302326 ^@ NM_002906.3(RDX):c.*1256_*1257delGA http://identifiers.org/clinvar/317859 ^@ NM_005236.2(ERCC4):c.*2659T>C http://identifiers.org/clinvar/308084 ^@ NM_004985.4(KRAS):c.*2505T>G http://identifiers.org/clinvar/301859 ^@ NM_001002261.3(ZFYVE27):c.*1283C>T http://identifiers.org/clinvar/301861 ^@ NM_001002261.3(ZFYVE27):c.*1310T>C http://identifiers.org/clinvar/301864 ^@ NM_001002261.3(ZFYVE27):c.*1411A>G http://identifiers.org/clinvar/308085 ^@ NM_004985.4(KRAS):c.*2484G>A http://identifiers.org/clinvar/302328 ^@ NM_002906.3(RDX):c.*1244_*1245delGA http://identifiers.org/clinvar/302331 ^@ NM_002906.3(RDX):c.*1083G>A http://identifiers.org/clinvar/302334 ^@ NM_002906.3(RDX):c.*885G>A http://identifiers.org/clinvar/308093 ^@ NM_004985.4(KRAS):c.*1891T>C http://identifiers.org/clinvar/302338 ^@ NM_002906.3(RDX):c.*463A>G http://identifiers.org/clinvar/317863 ^@ NM_005236.2(ERCC4):c.*3032G>T http://identifiers.org/clinvar/301867 ^@ NM_001002261.3(ZFYVE27):c.*1517G>C http://identifiers.org/clinvar/317871 ^@ NM_005236.2(ERCC4):c.*3439G>A http://identifiers.org/clinvar/298305 ^@ NM_000195.4(HPS1):c.*1326C>A http://identifiers.org/clinvar/298306 ^@ NM_000195.4(HPS1):c.*1249G>A http://identifiers.org/clinvar/308096 ^@ NM_004985.4(KRAS):c.*1765T>C http://identifiers.org/clinvar/317873 ^@ NM_005236.2(ERCC4):c.*3537C>T http://identifiers.org/clinvar/308103 ^@ NM_004985.4(KRAS):c.*1631A>G http://identifiers.org/clinvar/317878 ^@ NM_005236.2(ERCC4):c.*3913G>C http://identifiers.org/clinvar/308109 ^@ NM_004985.4(KRAS):c.*1205C>T http://identifiers.org/clinvar/308111 ^@ NM_004985.4(KRAS):c.*1062G>A http://identifiers.org/clinvar/298307 ^@ NM_000195.4(HPS1):c.*1235G>A http://identifiers.org/clinvar/302342 ^@ NM_002906.3(RDX):c.1530C>T (p.Ser510=) http://identifiers.org/clinvar/317902 ^@ NM_001287.5(CLCN7):c.*1685G>A http://identifiers.org/clinvar/298312 ^@ NM_000195.4(HPS1):c.*1085G>A http://identifiers.org/clinvar/317905 ^@ NM_001287.5(CLCN7):c.*1622_*1624delGGT http://identifiers.org/clinvar/308118 ^@ NM_004985.4(KRAS):c.*512T>C http://identifiers.org/clinvar/302345 ^@ NM_002906.3(RDX):c.1195G>A (p.Ala399Thr) http://identifiers.org/clinvar/298313 ^@ NM_000195.4(HPS1):c.*1005A>G http://identifiers.org/clinvar/308121 ^@ NM_004985.4(KRAS):c.*193C>T http://identifiers.org/clinvar/308125 ^@ NM_004985.4(KRAS):c.-128C>G http://identifiers.org/clinvar/298316 ^@ NM_000195.4(HPS1):c.*952T>G http://identifiers.org/clinvar/302350 ^@ NM_002906.3(RDX):c.602A>G (p.Tyr201Cys) http://identifiers.org/clinvar/317910 ^@ NM_001287.5(CLCN7):c.*1421G>C http://identifiers.org/clinvar/298317 ^@ NM_000195.4(HPS1):c.*943C>T http://identifiers.org/clinvar/317914 ^@ NM_001287.5(CLCN7):c.*1297T>C http://identifiers.org/clinvar/317921 ^@ NM_001287.5(CLCN7):c.*1143_*1144dupGG http://identifiers.org/clinvar/317922 ^@ NM_001287.5(CLCN7):c.*990C>T http://identifiers.org/clinvar/298321 ^@ NM_000195.4(HPS1):c.*736C>T http://identifiers.org/clinvar/298323 ^@ NM_000195.4(HPS1):c.*694C>T http://identifiers.org/clinvar/308133 ^@ NM_000719.6(CACNA1C):c.1520G>A (p.Arg507His) http://identifiers.org/clinvar/298327 ^@ NM_000195.4(HPS1):c.*473G>A http://identifiers.org/clinvar/308134 ^@ NM_000719.6(CACNA1C):c.1557C>A (p.Ala519=) http://identifiers.org/clinvar/308139 ^@ NM_000719.6(CACNA1C):c.2437G>A (p.Gly813Arg) http://identifiers.org/clinvar/317928 ^@ NM_001287.5(CLCN7):c.*627A>G http://identifiers.org/clinvar/308140 ^@ NM_000719.6(CACNA1C):c.2813T>C (p.Ile938Thr) http://identifiers.org/clinvar/317935 ^@ NM_001287.5(CLCN7):c.*388C>T http://identifiers.org/clinvar/298334 ^@ NM_000195.4(HPS1):c.2065C>T (p.Arg689Trp) http://identifiers.org/clinvar/298338 ^@ NM_000195.4(HPS1):c.1887C>T (p.Pro629=) http://identifiers.org/clinvar/302354 ^@ NM_002906.3(RDX):c.-64-6delT http://identifiers.org/clinvar/302357 ^@ NM_002906.3(RDX):c.-76C>T http://identifiers.org/clinvar/308141 ^@ NM_000719.6(CACNA1C):c.2958C>T (p.Ile986=) http://identifiers.org/clinvar/308142 ^@ NM_000719.6(CACNA1C):c.3201G>A (p.Ala1067=) http://identifiers.org/clinvar/317938 ^@ NM_001287.5(CLCN7):c.*241G>A http://identifiers.org/clinvar/308152 ^@ NM_000719.6(CACNA1C):c.4323G>A (p.Thr1441=) http://identifiers.org/clinvar/308158 ^@ NM_000719.6(CACNA1C):c.4917T>C (p.Leu1639=) http://identifiers.org/clinvar/308165 ^@ NM_000719.6(CACNA1C):c.6371G>A (p.Ser2124Asn) http://identifiers.org/clinvar/298339 ^@ NM_000195.4(HPS1):c.1767G>A (p.Ala589=) http://identifiers.org/clinvar/308167 ^@ NM_000719.6(CACNA1C):c.*261G>C http://identifiers.org/clinvar/317939 ^@ NM_001287.5(CLCN7):c.*228C>T http://identifiers.org/clinvar/317941 ^@ NM_001287.5(CLCN7):c.*57C>T http://identifiers.org/clinvar/298345 ^@ NM_000195.4(HPS1):c.695C>T (p.Ala232Val) http://identifiers.org/clinvar/298349 ^@ NM_000195.4(HPS1):c.366G>A (p.Leu122=) http://identifiers.org/clinvar/302358 ^@ NM_002906.3(RDX):c.-105C>T http://identifiers.org/clinvar/317943 ^@ NM_001287.5(CLCN7):c.2214C>T (p.Ser738=) http://identifiers.org/clinvar/302359 ^@ NM_002906.3(RDX):c.-149C>T http://identifiers.org/clinvar/317948 ^@ NM_001287.5(CLCN7):c.1354-7C>T http://identifiers.org/clinvar/298351 ^@ NM_000195.4(HPS1):c.256-4G>A http://identifiers.org/clinvar/298354 ^@ NM_000195.4(HPS1):c.159G>A (p.Pro53=) http://identifiers.org/clinvar/308175 ^@ NM_000719.6(CACNA1C):c.*768dupT http://identifiers.org/clinvar/317950 ^@ NM_001287.5(CLCN7):c.1135A>G (p.Ile379Val) http://identifiers.org/clinvar/298355 ^@ NM_000195.4(HPS1):c.122C>T (p.Pro41Leu) http://identifiers.org/clinvar/302362 ^@ NM_002906.3(RDX):c.-221C>A http://identifiers.org/clinvar/317954 ^@ NM_001287.5(CLCN7):c.801G>A (p.Thr267=) http://identifiers.org/clinvar/317959 ^@ NM_001287.5(CLCN7):c.564C>T (p.Leu188=) http://identifiers.org/clinvar/317960 ^@ NM_001287.5(CLCN7):c.352-11G>A http://identifiers.org/clinvar/298361 ^@ NM_000195.4(HPS1):c.-153delG http://identifiers.org/clinvar/308178 ^@ NM_000719.6(CACNA1C):c.*868C>T http://identifiers.org/clinvar/302370 ^@ NM_024740.2(ALG9):c.*3437_*3440delACAG http://identifiers.org/clinvar/298362 ^@ NM_004376.5(COX15):c.*4473T>C http://identifiers.org/clinvar/298368 ^@ NM_004376.5(COX15):c.*4152C>T http://identifiers.org/clinvar/298370 ^@ NM_004376.5(COX15):c.*3817A>G http://identifiers.org/clinvar/308186 ^@ NM_000719.6(CACNA1C):c.*1473G>T http://identifiers.org/clinvar/317961 ^@ NM_001287.5(CLCN7):c.351+14C>T http://identifiers.org/clinvar/317962 ^@ NM_001287.5(CLCN7):c.351+12G>A http://identifiers.org/clinvar/298372 ^@ NM_004376.5(COX15):c.*3729C>G http://identifiers.org/clinvar/298376 ^@ NM_004376.5(COX15):c.*3330A>G http://identifiers.org/clinvar/308189 ^@ NM_000719.6(CACNA1C):c.*1657_*1661delGAATT http://identifiers.org/clinvar/317970 ^@ NM_001287.5(CLCN7):c.90C>T (p.Pro30=) http://identifiers.org/clinvar/308190 ^@ NM_000719.6(CACNA1C):c.*1689A>G http://identifiers.org/clinvar/298382 ^@ NM_004376.6(COX15):c.*2742A>G http://identifiers.org/clinvar/302372 ^@ NM_024740.2(ALG9):c.*3358dupA http://identifiers.org/clinvar/308191 ^@ NM_000719.6(CACNA1C):c.*1911A>C http://identifiers.org/clinvar/308192 ^@ NM_000719.6(CACNA1C):c.*1925C>T http://identifiers.org/clinvar/308197 ^@ NM_000719.6(CACNA1C):c.*2407C>T http://identifiers.org/clinvar/317971 ^@ NM_001287.5(CLCN7):c.-20G>C http://identifiers.org/clinvar/317973 ^@ NM_001287.5(CLCN7):c.-81C>T http://identifiers.org/clinvar/298388 ^@ NM_004376.6(COX15):c.*2074T>C http://identifiers.org/clinvar/298389 ^@ NM_004376.6(COX15):c.*1725A>G http://identifiers.org/clinvar/308198 ^@ NM_000719.6(CACNA1C):c.*2408G>A http://identifiers.org/clinvar/317975 ^@ NM_014714.3(IFT140):c.*278C>A http://identifiers.org/clinvar/308202 ^@ NM_000719.6(CACNA1C):c.*2651C>T http://identifiers.org/clinvar/298393 ^@ NM_004376.6(COX15):c.*1495C>G http://identifiers.org/clinvar/302385 ^@ NM_024740.2(ALG9):c.*2473A>T http://identifiers.org/clinvar/302386 ^@ NM_024740.2(ALG9):c.*2472T>A http://identifiers.org/clinvar/298401 ^@ NM_004376.6(COX15):c.*677G>T http://identifiers.org/clinvar/302387 ^@ NM_024740.2(ALG9):c.*2451_*2457delCATCTTG http://identifiers.org/clinvar/308203 ^@ NM_000719.6(CACNA1C):c.*2707C>G http://identifiers.org/clinvar/317978 ^@ NM_014714.3(IFT140):c.*158G>C http://identifiers.org/clinvar/302390 ^@ NM_024740.2(ALG9):c.*2444delG http://identifiers.org/clinvar/317980 ^@ NM_014714.3(IFT140):c.*118G>A http://identifiers.org/clinvar/302395 ^@ NM_024740.2(ALG9):c.*2114C>T http://identifiers.org/clinvar/302399 ^@ NM_024740.2(ALG9):c.*1832A>C http://identifiers.org/clinvar/302400 ^@ NM_024740.2(ALG9):c.*1766A>G http://identifiers.org/clinvar/308204 ^@ NM_000719.6(CACNA1C):c.*2712T>C http://identifiers.org/clinvar/298407 ^@ NM_004376.6(COX15):c.*301C>T http://identifiers.org/clinvar/298409 ^@ NM_004376.6(COX15):c.*188C>T http://identifiers.org/clinvar/308207 ^@ NM_000719.6(CACNA1C):c.*2825A>G http://identifiers.org/clinvar/317981 ^@ NM_014714.3(IFT140):c.*59T>C http://identifiers.org/clinvar/308216 ^@ NM_000719.6(CACNA1C):c.*3299C>G http://identifiers.org/clinvar/298413 ^@ NM_004376.6(COX15):c.1029C>A (p.Leu343=) http://identifiers.org/clinvar/302406 ^@ NM_024740.2(ALG9):c.*1624A>C http://identifiers.org/clinvar/302411 ^@ NM_024740.2(ALG9):c.*1220C>T http://identifiers.org/clinvar/298414 ^@ NM_004376.6(COX15):c.988-3C>T http://identifiers.org/clinvar/308224 ^@ NM_000719.6(CACNA1C):c.*3892C>T http://identifiers.org/clinvar/298415 ^@ NM_004376.6(COX15):c.717G>T (p.Trp239Cys) http://identifiers.org/clinvar/317988 ^@ NM_014714.3(IFT140):c.4266C>T (p.Ala1422=) http://identifiers.org/clinvar/298418 ^@ NM_004376.6(COX15):c.255T>C (p.Ile85=) http://identifiers.org/clinvar/317994 ^@ NM_014714.3(IFT140):c.3874-11C>T http://identifiers.org/clinvar/308231 ^@ NM_000719.6(CACNA1C):c.*4176G>T http://identifiers.org/clinvar/308233 ^@ NM_000719.6(CACNA1C):c.*4205C>T http://identifiers.org/clinvar/317999 ^@ NM_014714.3(IFT140):c.3711C>T (p.Phe1237=) http://identifiers.org/clinvar/308236 ^@ NM_000719.6(CACNA1C):c.*4273A>G http://identifiers.org/clinvar/308242 ^@ NM_000719.6(CACNA1C):c.*4411C>T http://identifiers.org/clinvar/318006 ^@ NM_014714.3(IFT140):c.3566G>A (p.Arg1189Gln) http://identifiers.org/clinvar/318008 ^@ NM_014714.3(IFT140):c.3525C>G (p.Thr1175=) http://identifiers.org/clinvar/298419 ^@ NM_004376.6(COX15):c.161G>A (p.Gly54Glu) http://identifiers.org/clinvar/318011 ^@ NM_014714.3(IFT140):c.3402C>T (p.Ile1134=) http://identifiers.org/clinvar/298423 ^@ NM_004376.6(COX15):c.-71T>C http://identifiers.org/clinvar/298441 ^@ NM_000392.4(ABCC2):c.577-11G>T http://identifiers.org/clinvar/298443 ^@ NM_000392.4(ABCC2):c.764G>A (p.Arg255Gln) http://identifiers.org/clinvar/298444 ^@ NM_000392.4(ABCC2):c.1008G>A (p.Thr336=) http://identifiers.org/clinvar/318012 ^@ NM_014714.3(IFT140):c.3390C>T (p.Ser1130=) http://identifiers.org/clinvar/318013 ^@ NM_014714.3(IFT140):c.3385T>C (p.Cys1129Arg) http://identifiers.org/clinvar/308243 ^@ NM_000719.6(CACNA1C):c.*4440C>G http://identifiers.org/clinvar/308252 ^@ NM_000719.6(CACNA1C):c.*5147A>G http://identifiers.org/clinvar/298448 ^@ NM_000392.4(ABCC2):c.1219C>T (p.Leu407=) http://identifiers.org/clinvar/318042 ^@ NM_014714.3(IFT140):c.2817G>A (p.Ser939=) http://identifiers.org/clinvar/318049 ^@ NM_014714.3(IFT140):c.2650C>T (p.Arg884Trp) http://identifiers.org/clinvar/298452 ^@ NM_000392.4(ABCC2):c.1602G>T (p.Lys534Asn) http://identifiers.org/clinvar/298456 ^@ NM_000392.4(ABCC2):c.2362_2363delCT (p.Leu788Valfs) http://identifiers.org/clinvar/318050 ^@ NM_014714.3(IFT140):c.2586C>T (p.Ala862=) http://identifiers.org/clinvar/298469 ^@ NM_000392.4(ABCC2):c.3648C>A (p.Asn1216Lys) http://identifiers.org/clinvar/318051 ^@ NM_014714.3(IFT140):c.2578-13C>T http://identifiers.org/clinvar/318053 ^@ NM_014714.3(IFT140):c.2569G>A (p.Gly857Ser) http://identifiers.org/clinvar/318055 ^@ NM_014714.3(IFT140):c.2550C>T (p.Ala850=) http://identifiers.org/clinvar/302412 ^@ NM_024740.2(ALG9):c.*1215_*1218delAGTT http://identifiers.org/clinvar/302413 ^@ NM_024740.2(ALG9):c.*971C>T http://identifiers.org/clinvar/302414 ^@ NM_024740.2(ALG9):c.*906C>A http://identifiers.org/clinvar/298473 ^@ NM_000392.4(ABCC2):c.4110C>T (p.Leu1370=) http://identifiers.org/clinvar/302415 ^@ NM_024740.2(ALG9):c.*823A>G http://identifiers.org/clinvar/318181 ^@ NM_014714.3(IFT140):c.2330T>G (p.Leu777Arg) http://identifiers.org/clinvar/318182 ^@ NM_014714.3(IFT140):c.2008C>T (p.Pro670Ser) http://identifiers.org/clinvar/302417 ^@ NM_024740.2(ALG9):c.*773A>G http://identifiers.org/clinvar/302418 ^@ NM_024740.2(ALG9):c.*763T>C http://identifiers.org/clinvar/302419 ^@ NM_024740.2(ALG9):c.*532C>T http://identifiers.org/clinvar/318018 ^@ NM_001143979.1(NDE1):c.-695C>T http://identifiers.org/clinvar/318019 ^@ NM_001143979.1(NDE1):c.-687C>T http://identifiers.org/clinvar/298474 ^@ NM_000392.4(ABCC2):c.4146+11G>C http://identifiers.org/clinvar/298475 ^@ NM_000392.4(ABCC2):c.4290G>T (p.Val1430=) http://identifiers.org/clinvar/298476 ^@ NM_000392.4(ABCC2):c.4410G>A (p.Glu1470=) http://identifiers.org/clinvar/302425 ^@ NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp) http://identifiers.org/clinvar/302426 ^@ NM_024740.2(ALG9):c.-30G>A http://identifiers.org/clinvar/308254 ^@ NM_000719.6(CACNA1C):c.*5267C>A http://identifiers.org/clinvar/308258 ^@ NM_000719.6(CACNA1C):c.*5585G>A http://identifiers.org/clinvar/298479 ^@ NM_000392.4(ABCC2):c.4488C>T (p.His1496=) http://identifiers.org/clinvar/298482 ^@ NM_000392.4(ABCC2):c.*116delG http://identifiers.org/clinvar/318027 ^@ NM_001143979.1(NDE1):c.-479C>T http://identifiers.org/clinvar/302430 ^@ NM_001885.2(CRYAB):c.*38G>C http://identifiers.org/clinvar/302436 ^@ NM_001931.4(DLAT):c.-598C>T http://identifiers.org/clinvar/318035 ^@ NM_001143979.1(NDE1):c.-165-12_-165-9delCTGT http://identifiers.org/clinvar/318036 ^@ NM_001143979.1(NDE1):c.-164C>T http://identifiers.org/clinvar/298483 ^@ NM_000392.4(ABCC2):c.*259G>T http://identifiers.org/clinvar/302437 ^@ NM_001931.4(DLAT):c.-590G>A http://identifiers.org/clinvar/318184 ^@ NM_014714.3(IFT140):c.1872G>A (p.Thr624=) http://identifiers.org/clinvar/318187 ^@ NM_014714.3(IFT140):c.1788T>C (p.Asp596=) http://identifiers.org/clinvar/302442 ^@ NM_001931.4(DLAT):c.-338T>C http://identifiers.org/clinvar/302445 ^@ NM_001931.4(DLAT):c.-203C>T http://identifiers.org/clinvar/308261 ^@ NM_000719.6(CACNA1C):c.*5811G>A http://identifiers.org/clinvar/302453 ^@ NM_001931.4(DLAT):c.506+12G>A http://identifiers.org/clinvar/318046 ^@ NM_001143979.1(NDE1):c.35A>G (p.Glu12Gly) http://identifiers.org/clinvar/302455 ^@ NM_001931.4(DLAT):c.828G>T (p.Leu276=) http://identifiers.org/clinvar/302464 ^@ NM_001931.4(DLAT):c.*96C>A http://identifiers.org/clinvar/308262 ^@ NM_000719.6(CACNA1C):c.*5841G>A http://identifiers.org/clinvar/318052 ^@ NM_001143979.1(NDE1):c.95C>T (p.Thr32Met) http://identifiers.org/clinvar/318188 ^@ NM_014714.3(IFT140):c.1682G>A (p.Ser561Asn) http://identifiers.org/clinvar/308265 ^@ NM_000719.6(CACNA1C):c.*5968_*5970delATA http://identifiers.org/clinvar/308271 ^@ NM_000719.6(CACNA1C):c.*6281G>A http://identifiers.org/clinvar/308273 ^@ NM_000719.6(CACNA1C):c.*6553T>G http://identifiers.org/clinvar/302467 ^@ NM_001931.4(DLAT):c.*243T>C http://identifiers.org/clinvar/318066 ^@ NM_001143979.1(NDE1):c.823C>T (p.Arg275Trp) http://identifiers.org/clinvar/318069 ^@ NM_001143979.1(NDE1):c.947+6270C>T http://identifiers.org/clinvar/301871 ^@ NM_030962.3(SBF2):c.705T>C (p.Ser235=) http://identifiers.org/clinvar/301878 ^@ NM_004621.5(TRPC6):c.*1089C>T http://identifiers.org/clinvar/308280 ^@ NM_139241.3(FGD4):c.-289A>G http://identifiers.org/clinvar/308283 ^@ NM_139241.3(FGD4):c.-144A>T http://identifiers.org/clinvar/301882 ^@ NM_004621.5(TRPC6):c.*821C>T http://identifiers.org/clinvar/318070 ^@ NM_001143979.1(NDE1):c.947+6327G>A http://identifiers.org/clinvar/318071 ^@ NM_001143979.1(NDE1):c.947+6367C>T http://identifiers.org/clinvar/318078 ^@ NM_001143979.1(NDE1):c.947+6612A>G http://identifiers.org/clinvar/318092 ^@ NM_001143979.1(NDE1):c.948-9103C>T http://identifiers.org/clinvar/302476 ^@ NM_001931.4(DLAT):c.*1248G>C http://identifiers.org/clinvar/302483 ^@ NM_003002.3(SDHD):c.136G>A (p.Val46Met) http://identifiers.org/clinvar/308300 ^@ NM_139241.3(FGD4):c.1814G>A (p.Gly605Asp) http://identifiers.org/clinvar/301885 ^@ NM_004621.5(TRPC6):c.*668G>A http://identifiers.org/clinvar/318094 ^@ NM_001143979.1(NDE1):c.948-6968G>A http://identifiers.org/clinvar/302486 ^@ NM_003002.3(SDHD):c.*302A>G http://identifiers.org/clinvar/318095 ^@ NM_001143979.1(NDE1):c.948-6953G>C http://identifiers.org/clinvar/302492 ^@ NM_003002.3(SDHD):c.*622A>G http://identifiers.org/clinvar/302496 ^@ NM_003002.3(SDHD):c.*815T>C http://identifiers.org/clinvar/318097 ^@ NM_001143979.1(NDE1):c.948-6837G>A http://identifiers.org/clinvar/318101 ^@ NM_001143979.1(NDE1):c.948-5807C>G http://identifiers.org/clinvar/308311 ^@ NM_139241.3(FGD4):c.*1068A>G http://identifiers.org/clinvar/318103 ^@ NM_001143979.1(NDE1):c.948-4025C>T http://identifiers.org/clinvar/308317 ^@ NM_139241.3(FGD4):c.*1356T>G http://identifiers.org/clinvar/308319 ^@ NM_139241.3(FGD4):c.*1485T>C http://identifiers.org/clinvar/308326 ^@ NM_139241.3(FGD4):c.*1908G>C http://identifiers.org/clinvar/301888 ^@ NM_004621.5(TRPC6):c.*530T>C http://identifiers.org/clinvar/308328 ^@ NM_139241.3(FGD4):c.*2026A>G http://identifiers.org/clinvar/318105 ^@ NM_001143979.1(NDE1):c.948-3908G>A http://identifiers.org/clinvar/318108 ^@ NM_002474.2(MYH11):c.4791+13G>A http://identifiers.org/clinvar/308331 ^@ NM_139241.3(FGD4):c.*2374G>T http://identifiers.org/clinvar/318113 ^@ NM_002474.2(MYH11):c.4293C>T (p.Asp1431=) http://identifiers.org/clinvar/301889 ^@ NM_004621.5(TRPC6):c.*509_*512dupCTTA http://identifiers.org/clinvar/301893 ^@ NM_004621.5(TRPC6):c.*175A>C http://identifiers.org/clinvar/301897 ^@ NM_004621.5(TRPC6):c.*9C>T http://identifiers.org/clinvar/308332 ^@ NM_139241.3(FGD4):c.*2462C>A http://identifiers.org/clinvar/318118 ^@ NM_002474.2(MYH11):c.4116+111dupC http://identifiers.org/clinvar/318121 ^@ NM_001143979.1(NDE1):c.*344C>T http://identifiers.org/clinvar/318123 ^@ NM_001143979.1(NDE1):c.*438G>A http://identifiers.org/clinvar/308333 ^@ NM_139241.3(FGD4):c.*2537C>A http://identifiers.org/clinvar/308338 ^@ NM_139241.3(FGD4):c.*3044T>C http://identifiers.org/clinvar/308343 ^@ NM_139241.3(FGD4):c.*3148delT http://identifiers.org/clinvar/301898 ^@ NM_004621.5(TRPC6):c.2770C>T (p.Pro924Ser) http://identifiers.org/clinvar/318125 ^@ NM_001143979.1(NDE1):c.*559G>T http://identifiers.org/clinvar/301902 ^@ NM_004621.5(TRPC6):c.2088C>T (p.Asn696=) http://identifiers.org/clinvar/318128 ^@ NM_001143979.1(NDE1):c.*898dupA http://identifiers.org/clinvar/301907 ^@ NM_004621.5(TRPC6):c.1344C>A (p.Ala448=) http://identifiers.org/clinvar/301909 ^@ NM_004621.5(TRPC6):c.1057C>T (p.Leu353Phe) http://identifiers.org/clinvar/301912 ^@ NM_004621.5(TRPC6):c.213T>A (p.Val71=) http://identifiers.org/clinvar/301915 ^@ NM_004621.5(TRPC6):c.-35G>A http://identifiers.org/clinvar/308344 ^@ NM_139241.3(FGD4):c.*3150A>G http://identifiers.org/clinvar/301916 ^@ NM_004621.5(TRPC6):c.-125C>T http://identifiers.org/clinvar/301918 ^@ NM_004621.5(TRPC6):c.-218C>T http://identifiers.org/clinvar/308347 ^@ NM_139241.3(FGD4):c.*3438C>T http://identifiers.org/clinvar/301919 ^@ NM_004621.5(TRPC6):c.-243C>T http://identifiers.org/clinvar/308359 ^@ NM_139241.3(FGD4):c.*4268A>G http://identifiers.org/clinvar/301923 ^@ NM_004621.5(TRPC6):c.-343C>G http://identifiers.org/clinvar/308366 ^@ NM_139241.3(FGD4):c.*4772dupT http://identifiers.org/clinvar/302506 ^@ NM_000039.2(APOA1):c.284T>A (p.Phe95Tyr) http://identifiers.org/clinvar/302525 ^@ NM_001680.4(FXYD2):c.45C>T (p.Asp15=) http://identifiers.org/clinvar/302528 ^@ NM_001558.3(IL10RA):c.-70C>T http://identifiers.org/clinvar/301931 ^@ NM_004771.3(MMP20):c.*465A>G http://identifiers.org/clinvar/302529 ^@ NM_001558.3(IL10RA):c.-54T>C http://identifiers.org/clinvar/318135 ^@ NM_001143979.1(NDE1):c.*899C>A http://identifiers.org/clinvar/302531 ^@ NM_001558.3(IL10RA):c.67+11G>A http://identifiers.org/clinvar/301935 ^@ NM_004771.3(MMP20):c.1247+8T>C http://identifiers.org/clinvar/308369 ^@ NM_139241.3(FGD4):c.*4925A>T http://identifiers.org/clinvar/308377 ^@ NM_139241.3(FGD4):c.*5198G>A http://identifiers.org/clinvar/308383 ^@ NM_012062.4(DNM1L):c.-50C>A http://identifiers.org/clinvar/301942 ^@ NM_004771.3(MMP20):c.910G>A (p.Ala304Thr) http://identifiers.org/clinvar/301943 ^@ NM_004771.3(MMP20):c.883C>G (p.Leu295Val) http://identifiers.org/clinvar/301946 ^@ NM_004771.3(MMP20):c.757C>T (p.Pro253Ser) http://identifiers.org/clinvar/318142 ^@ NM_001143979.1(NDE1):c.*1220G>A http://identifiers.org/clinvar/302532 ^@ NM_001558.3(IL10RA):c.67+13G>A http://identifiers.org/clinvar/318152 ^@ NM_001143979.1(NDE1):c.*1973_*1977delTTCCC http://identifiers.org/clinvar/318153 ^@ NM_001143979.1(NDE1):c.*1981A>G http://identifiers.org/clinvar/302534 ^@ NM_001558.3(IL10RA):c.72A>C (p.Thr24=) http://identifiers.org/clinvar/301948 ^@ NM_004771.3(MMP20):c.666C>T (p.Thr222=) http://identifiers.org/clinvar/301949 ^@ NM_004771.3(MMP20):c.505A>C (p.Ile169Leu) http://identifiers.org/clinvar/302542 ^@ NM_001558.3(IL10RA):c.320G>A (p.Arg107Gln) http://identifiers.org/clinvar/308384 ^@ NM_012062.4(DNM1L):c.-25A>G http://identifiers.org/clinvar/302545 ^@ NM_001558.3(IL10RA):c.447G>A (p.Lys149=) http://identifiers.org/clinvar/318161 ^@ NM_002474.2(MYH11):c.2997+10G>T http://identifiers.org/clinvar/318167 ^@ NM_002474.2(MYH11):c.2041C>T (p.Pro681Ser) http://identifiers.org/clinvar/302547 ^@ NM_001558.3(IL10RA):c.525G>A (p.Pro175=) http://identifiers.org/clinvar/302549 ^@ NM_001558.3(IL10RA):c.696C>T (p.Thr232=) http://identifiers.org/clinvar/302550 ^@ NM_001558.3(IL10RA):c.706G>A (p.Val236Ile) http://identifiers.org/clinvar/301955 ^@ NM_004771.3(MMP20):c.274A>G (p.Met92Val) http://identifiers.org/clinvar/318173 ^@ NM_002474.2(MYH11):c.1249-15G>T http://identifiers.org/clinvar/302100 ^@ NM_030962.3(SBF2):c.23T>G (p.Phe8Cys) http://identifiers.org/clinvar/301958 ^@ NM_002427.3(MMP13):c.*1219A>C http://identifiers.org/clinvar/302553 ^@ NM_001558.3(IL10RA):c.972C>T (p.Thr324=) http://identifiers.org/clinvar/302560 ^@ NM_001558.3(IL10RA):c.*104C>G http://identifiers.org/clinvar/308387 ^@ NM_012062.4(DNM1L):c.486T>C (p.Ile162=) http://identifiers.org/clinvar/318174 ^@ NM_002474.2(MYH11):c.727-11C>T http://identifiers.org/clinvar/318175 ^@ NM_002474.2(MYH11):c.720A>T (p.Ser240=) http://identifiers.org/clinvar/318192 ^@ NM_014714.3(IFT140):c.1352C>T (p.Ala451Val) http://identifiers.org/clinvar/308388 ^@ NM_012062.4(DNM1L):c.1104T>C (p.Tyr368=) http://identifiers.org/clinvar/301972 ^@ NM_002427.3(MMP13):c.*264C>T http://identifiers.org/clinvar/302561 ^@ NM_001558.3(IL10RA):c.*133C>T http://identifiers.org/clinvar/308391 ^@ NM_012062.4(DNM1L):c.1866C>T (p.Ala622=) http://identifiers.org/clinvar/301974 ^@ NM_002427.3(MMP13):c.1372C>T (p.Arg458Cys) http://identifiers.org/clinvar/308401 ^@ NM_012062.4(DNM1L):c.*275_*278dupTGTT http://identifiers.org/clinvar/308402 ^@ NM_012062.4(DNM1L):c.*335_*338dupCTTT http://identifiers.org/clinvar/301975 ^@ NM_002427.3(MMP13):c.1315+15T>C http://identifiers.org/clinvar/318193 ^@ NM_014714.3(IFT140):c.1230G>A (p.Ser410=) http://identifiers.org/clinvar/318197 ^@ NM_014714.3(IFT140):c.937C>G (p.Leu313Val) http://identifiers.org/clinvar/308409 ^@ NM_012062.4(DNM1L):c.*744A>T http://identifiers.org/clinvar/308419 ^@ NM_012062.4(DNM1L):c.*1279G>A http://identifiers.org/clinvar/308423 ^@ NM_012062.4(DNM1L):c.*1341A>G http://identifiers.org/clinvar/301980 ^@ NM_002427.3(MMP13):c.997C>T (p.Arg333Cys) http://identifiers.org/clinvar/308424 ^@ NM_012062.4(DNM1L):c.*1401A>G http://identifiers.org/clinvar/308428 ^@ NM_012062.4(DNM1L):c.*1532A>G http://identifiers.org/clinvar/308438 ^@ NM_012062.4(DNM1L):c.*2206dupA http://identifiers.org/clinvar/302563 ^@ NM_001558.3(IL10RA):c.*356dupG http://identifiers.org/clinvar/302565 ^@ NM_001558.3(IL10RA):c.*676C>T http://identifiers.org/clinvar/308441 ^@ NM_001040436.2(YARS2):c.*406C>T http://identifiers.org/clinvar/302567 ^@ NM_001558.3(IL10RA):c.*854C>G http://identifiers.org/clinvar/308446 ^@ NM_001040436.2(YARS2):c.*162A>G http://identifiers.org/clinvar/302575 ^@ NM_001558.3(IL10RA):c.*1412T>C http://identifiers.org/clinvar/302576 ^@ NM_001558.3(IL10RA):c.*1555C>T http://identifiers.org/clinvar/308450 ^@ NM_001040436.2(YARS2):c.*24A>G http://identifiers.org/clinvar/318201 ^@ NM_014714.3(IFT140):c.839G>A (p.Arg280Gln) http://identifiers.org/clinvar/308454 ^@ NM_001040436.2(YARS2):c.934G>C (p.Asp312His) http://identifiers.org/clinvar/302577 ^@ NM_001558.3(IL10RA):c.*1664A>G http://identifiers.org/clinvar/302579 ^@ NM_001558.3(IL10RA):c.*1722T>C http://identifiers.org/clinvar/308457 ^@ NM_001040436.2(YARS2):c.870T>C (p.Val290=) http://identifiers.org/clinvar/302582 ^@ NM_174934.3(SCN4B):c.*3607_*3611delGTATT http://identifiers.org/clinvar/318203 ^@ NM_014714.3(IFT140):c.810+9G>T http://identifiers.org/clinvar/318205 ^@ NM_014714.3(IFT140):c.772A>T (p.Thr258Ser) http://identifiers.org/clinvar/308464 ^@ NM_001040436.2(YARS2):c.234T>C (p.Cys78=) http://identifiers.org/clinvar/318211 ^@ NM_014714.3(IFT140):c.492-14G>A http://identifiers.org/clinvar/302584 ^@ NM_174934.3(SCN4B):c.*3279G>A http://identifiers.org/clinvar/301984 ^@ NM_002427.3(MMP13):c.800-9C>T http://identifiers.org/clinvar/308467 ^@ NM_004572.3(PKP2):c.*1602A>G http://identifiers.org/clinvar/318214 ^@ NM_014714.3(IFT140):c.422C>T (p.Thr141Met) http://identifiers.org/clinvar/302585 ^@ NM_174934.3(SCN4B):c.*3054T>C http://identifiers.org/clinvar/302587 ^@ NM_174934.3(SCN4B):c.*2977A>G http://identifiers.org/clinvar/318215 ^@ NM_014714.3(IFT140):c.410G>A (p.Arg137Gln) http://identifiers.org/clinvar/308477 ^@ NM_004572.3(PKP2):c.*1048G>T http://identifiers.org/clinvar/318217 ^@ NM_014714.3(IFT140):c.181C>T (p.Pro61Ser) http://identifiers.org/clinvar/308479 ^@ NM_004572.3(PKP2):c.*962C>A http://identifiers.org/clinvar/302588 ^@ NM_174934.3(SCN4B):c.*2952G>A http://identifiers.org/clinvar/302590 ^@ NM_174934.3(SCN4B):c.*2918A>G http://identifiers.org/clinvar/318220 ^@ NM_014714.3(IFT140):c.22C>G (p.Gln8Glu) http://identifiers.org/clinvar/302600 ^@ NM_174934.3(SCN4B):c.*2268C>T http://identifiers.org/clinvar/308486 ^@ NM_004572.3(PKP2):c.*753C>G http://identifiers.org/clinvar/301986 ^@ NM_002427.3(MMP13):c.799+7C>T http://identifiers.org/clinvar/318221 ^@ NM_014714.3(IFT140):c.-4C>T http://identifiers.org/clinvar/318229 ^@ NM_004970.2(IGFALS):c.*140C>T http://identifiers.org/clinvar/302602 ^@ NM_174934.3(SCN4B):c.*2196G>A http://identifiers.org/clinvar/302611 ^@ NM_174934.3(SCN4B):c.*1810C>T http://identifiers.org/clinvar/302614 ^@ NM_174934.3(SCN4B):c.*1343C>T http://identifiers.org/clinvar/301989 ^@ NM_002427.3(MMP13):c.509A>C (p.Lys170Thr) http://identifiers.org/clinvar/301990 ^@ NM_002427.3(MMP13):c.301G>T (p.Val101Leu) http://identifiers.org/clinvar/301992 ^@ NM_002427.3(MMP13):c.52C>T (p.Arg18Trp) http://identifiers.org/clinvar/302002 ^@ NM_001080463.1(DYNC2H1):c.391G>C (p.Asp131His) http://identifiers.org/clinvar/302005 ^@ NM_001080463.1(DYNC2H1):c.911A>T (p.Gln304Leu) http://identifiers.org/clinvar/318234 ^@ NM_004970.2(IGFALS):c.1694T>C (p.Ile565Thr) http://identifiers.org/clinvar/308487 ^@ NM_004572.3(PKP2):c.*683T>C http://identifiers.org/clinvar/308492 ^@ NM_004572.3(PKP2):c.*400A>G http://identifiers.org/clinvar/318245 ^@ NM_004970.2(IGFALS):c.1065G>A (p.Ala355=) http://identifiers.org/clinvar/308498 ^@ NM_004572.3(PKP2):c.*227T>C http://identifiers.org/clinvar/308503 ^@ NM_004572.3(PKP2):c.*41G>A http://identifiers.org/clinvar/308505 ^@ NM_004572.3(PKP2):c.2636T>G (p.Leu879Arg) http://identifiers.org/clinvar/308510 ^@ NM_004572.3(PKP2):c.1323G>T (p.Arg441=) http://identifiers.org/clinvar/318254 ^@ NM_004970.2(IGFALS):c.684C>T (p.Asn228=) http://identifiers.org/clinvar/318264 ^@ NM_004970.2(IGFALS):c.229C>A (p.Gln77Lys) http://identifiers.org/clinvar/302007 ^@ NM_001080463.1(DYNC2H1):c.1007C>T (p.Ala336Val) http://identifiers.org/clinvar/302010 ^@ NM_001080463.1(DYNC2H1):c.1233A>G (p.Gln411=) http://identifiers.org/clinvar/302012 ^@ NM_001080463.1(DYNC2H1):c.1320A>C (p.Glu440Asp) http://identifiers.org/clinvar/308518 ^@ NM_004572.3(PKP2):c.146A>G (p.Gln49Arg) http://identifiers.org/clinvar/302013 ^@ NM_001080463.1(DYNC2H1):c.1367G>A (p.Arg456Gln) http://identifiers.org/clinvar/308519 ^@ NM_004572.3(PKP2):c.-15G>T http://identifiers.org/clinvar/308520 ^@ NM_004572.3(PKP2):c.-51C>T http://identifiers.org/clinvar/302021 ^@ NM_001080463.1(DYNC2H1):c.2550G>A (p.Leu850=) http://identifiers.org/clinvar/318273 ^@ NM_004970.2(IGFALS):c.-19A>G http://identifiers.org/clinvar/308521 ^@ NM_004572.3(PKP2):c.-70C>T http://identifiers.org/clinvar/302022 ^@ NM_001080463.1(DYNC2H1):c.2818+13T>C http://identifiers.org/clinvar/302026 ^@ NM_001080463.1(DYNC2H1):c.3573+5G>T http://identifiers.org/clinvar/318280 ^@ NM_003361.3(UMOD):c.*88G>A http://identifiers.org/clinvar/308523 ^@ NM_004572.3(PKP2):c.-90G>T http://identifiers.org/clinvar/318282 ^@ NM_003361.3(UMOD):c.1916T>C (p.Phe639Ser) http://identifiers.org/clinvar/308528 ^@ NM_017641.3(KIF21A):c.*1010T>C http://identifiers.org/clinvar/308531 ^@ NM_017641.3(KIF21A):c.*812T>C http://identifiers.org/clinvar/302027 ^@ NM_001080463.1(DYNC2H1):c.3643C>T (p.Arg1215Cys) http://identifiers.org/clinvar/302028 ^@ NM_001080463.1(DYNC2H1):c.3660T>C (p.Pro1220=) http://identifiers.org/clinvar/308537 ^@ NM_017641.3(KIF21A):c.*472A>G http://identifiers.org/clinvar/302617 ^@ NM_174934.3(SCN4B):c.*1164G>A http://identifiers.org/clinvar/302621 ^@ NM_174934.3(SCN4B):c.*990delA http://identifiers.org/clinvar/302625 ^@ NM_174934.3(SCN4B):c.*986C>T http://identifiers.org/clinvar/302627 ^@ NM_174934.3(SCN4B):c.*979C>A http://identifiers.org/clinvar/302035 ^@ NM_001080463.1(DYNC2H1):c.4497G>T (p.Trp1499Cys) http://identifiers.org/clinvar/318290 ^@ NM_003361.3(UMOD):c.1182+5G>T http://identifiers.org/clinvar/302038 ^@ NM_001080463.1(DYNC2H1):c.4808T>G (p.Ile1603Ser) http://identifiers.org/clinvar/302631 ^@ NM_174934.3(SCN4B):c.*889G>A http://identifiers.org/clinvar/302634 ^@ NM_174934.3(SCN4B):c.*812A>C http://identifiers.org/clinvar/318292 ^@ NM_003361.3(UMOD):c.1131G>C (p.Trp377Cys) http://identifiers.org/clinvar/302651 ^@ NM_174934.3(SCN4B):c.-116G>A http://identifiers.org/clinvar/302652 ^@ NM_174934.3(SCN4B):c.-178C>T http://identifiers.org/clinvar/318293 ^@ NM_003361.3(UMOD):c.1062C>T (p.Phe354=) http://identifiers.org/clinvar/302662 ^@ NM_000733.3(CD3E):c.211G>C (p.Asp71His) http://identifiers.org/clinvar/302663 ^@ NM_000733.3(CD3E):c.458A>C (p.Lys153Thr) http://identifiers.org/clinvar/318297 ^@ NM_003361.3(UMOD):c.184A>C (p.Thr62Pro) http://identifiers.org/clinvar/302667 ^@ NM_000733.3(CD3E):c.*441C>T http://identifiers.org/clinvar/302670 ^@ NM_000732.4(CD3D):c.510C>T (p.Asn170=) http://identifiers.org/clinvar/302674 ^@ NM_000732.4(CD3D):c.-44G>A http://identifiers.org/clinvar/308538 ^@ NM_017641.3(KIF21A):c.*451A>G http://identifiers.org/clinvar/302039 ^@ NM_001080463.1(DYNC2H1):c.4918T>C (p.Cys1640Arg) http://identifiers.org/clinvar/318302 ^@ NM_000548.4(TSC2):c.-85G>C http://identifiers.org/clinvar/302686 ^@ NM_000073.2(CD3G):c.511T>C (p.Tyr171His) http://identifiers.org/clinvar/302050 ^@ NM_001080463.1(DYNC2H1):c.5791T>A (p.Leu1931Met) http://identifiers.org/clinvar/318308 ^@ NM_000548.4(TSC2):c.849-13G>A http://identifiers.org/clinvar/308539 ^@ NM_017641.3(KIF21A):c.*447A>G http://identifiers.org/clinvar/308549 ^@ NM_017641.3(KIF21A):c.4497T>C (p.Thr1499=) http://identifiers.org/clinvar/302053 ^@ NM_001080463.1(DYNC2H1):c.6307T>A (p.Ser2103Thr) http://identifiers.org/clinvar/302687 ^@ NM_000073.2(CD3G):c.*112C>T http://identifiers.org/clinvar/308551 ^@ NM_017641.3(KIF21A):c.4432C>T (p.His1478Tyr) http://identifiers.org/clinvar/308557 ^@ NM_017641.3(KIF21A):c.3672G>T (p.Glu1224Asp) http://identifiers.org/clinvar/308558 ^@ NM_017641.3(KIF21A):c.3602C>G (p.Pro1201Arg) http://identifiers.org/clinvar/318310 ^@ NM_000548.4(TSC2):c.1362-9G>A http://identifiers.org/clinvar/302690 ^@ NM_000073.2(CD3G):c.*450dupT http://identifiers.org/clinvar/302693 ^@ NM_000073.2(CD3G):c.*453G>T http://identifiers.org/clinvar/302704 ^@ NM_001164277.1(SLC37A4):c.1225G>A (p.Ala409Thr) http://identifiers.org/clinvar/308562 ^@ NM_017641.3(KIF21A):c.3110A>G (p.Asn1037Ser) http://identifiers.org/clinvar/302706 ^@ NM_001164277.1(SLC37A4):c.492C>T (p.Ser164=) http://identifiers.org/clinvar/318320 ^@ NM_000548.4(TSC2):c.2312C>T (p.Thr771Ile) http://identifiers.org/clinvar/318327 ^@ NM_000548.4(TSC2):c.3492G>A (p.Ala1164=) http://identifiers.org/clinvar/302708 ^@ NM_001164277.1(SLC37A4):c.382-6C>A http://identifiers.org/clinvar/318328 ^@ NM_000548.4(TSC2):c.3733C>T (p.Arg1245Trp) http://identifiers.org/clinvar/308563 ^@ NM_017641.3(KIF21A):c.3079C>T (p.Leu1027=) http://identifiers.org/clinvar/308567 ^@ NM_017641.3(KIF21A):c.2705T>C (p.Ile902Thr) http://identifiers.org/clinvar/302055 ^@ NM_001080463.1(DYNC2H1):c.6558C>T (p.Asp2186=) http://identifiers.org/clinvar/302057 ^@ NM_001080463.1(DYNC2H1):c.6849T>G (p.Thr2283=) http://identifiers.org/clinvar/308571 ^@ NM_017641.3(KIF21A):c.2448+5A>T http://identifiers.org/clinvar/318331 ^@ NM_000548.4(TSC2):c.4458C>T (p.Ala1486=) http://identifiers.org/clinvar/318332 ^@ NM_000548.4(TSC2):c.4834G>A (p.Asp1612Asn) http://identifiers.org/clinvar/308574 ^@ NM_017641.3(KIF21A):c.2266A>G (p.Thr756Ala) http://identifiers.org/clinvar/308575 ^@ NM_017641.3(KIF21A):c.1847G>T (p.Ser616Ile) http://identifiers.org/clinvar/302710 ^@ NM_001164277.1(SLC37A4):c.-50T>G http://identifiers.org/clinvar/302712 ^@ NM_001164277.1(SLC37A4):c.-108G>A http://identifiers.org/clinvar/318333 ^@ NM_000548.4(TSC2):c.4849+13G>A http://identifiers.org/clinvar/318335 ^@ NM_000548.4(TSC2):c.4930G>A (p.Asp1644Asn) http://identifiers.org/clinvar/308576 ^@ NM_017641.3(KIF21A):c.1841G>T (p.Gly614Val) http://identifiers.org/clinvar/308578 ^@ NM_017641.3(KIF21A):c.1674-11C>G http://identifiers.org/clinvar/308583 ^@ NM_017641.3(KIF21A):c.1321G>A (p.Ala441Thr) http://identifiers.org/clinvar/302713 ^@ NM_001164277.1(SLC37A4):c.-195-11G>T http://identifiers.org/clinvar/318337 ^@ NM_000548.4(TSC2):c.5301G>C (p.Leu1767=) http://identifiers.org/clinvar/318392 ^@ NM_001089.2(ABCA3):c.5080C>T (p.His1694Tyr) http://identifiers.org/clinvar/318393 ^@ NM_001089.2(ABCA3):c.5023G>A (p.Val1675Met) http://identifiers.org/clinvar/302716 ^@ NM_001164277.1(SLC37A4):c.-291delG http://identifiers.org/clinvar/302722 ^@ NM_001164277.1(SLC37A4):c.-755T>A http://identifiers.org/clinvar/318397 ^@ NM_001089.2(ABCA3):c.4666A>G (p.Thr1556Ala) http://identifiers.org/clinvar/302058 ^@ NM_001080463.1(DYNC2H1):c.6931A>G (p.Thr2311Ala) http://identifiers.org/clinvar/302723 ^@ NM_000190.3(HMBS):c.-65C>T http://identifiers.org/clinvar/318399 ^@ NM_001089.2(ABCA3):c.4165-14T>C http://identifiers.org/clinvar/318401 ^@ NM_001089.2(ABCA3):c.4027C>T (p.Arg1343Trp) http://identifiers.org/clinvar/302724 ^@ NM_000190.3(HMBS):c.-28A>C http://identifiers.org/clinvar/318404 ^@ NM_001089.2(ABCA3):c.3927C>T (p.Ser1309=) http://identifiers.org/clinvar/318408 ^@ NM_001089.2(ABCA3):c.3667G>A (p.Ala1223Thr) http://identifiers.org/clinvar/302726 ^@ NM_000190.3(HMBS):c.135G>A (p.Ser45=) http://identifiers.org/clinvar/318411 ^@ NM_001089.2(ABCA3):c.3540C>T (p.Asp1180=) http://identifiers.org/clinvar/302078 ^@ NM_001080463.1(DYNC2H1):c.9217T>C (p.Ser3073Pro) http://identifiers.org/clinvar/318412 ^@ NM_001089.2(ABCA3):c.3483+10G>A http://identifiers.org/clinvar/318413 ^@ NM_001089.2(ABCA3):c.3470G>T (p.Ser1157Ile) http://identifiers.org/clinvar/308588 ^@ NM_017641.3(KIF21A):c.825C>T (p.Leu275=) http://identifiers.org/clinvar/308594 ^@ NM_017641.3(KIF21A):c.-31C>T http://identifiers.org/clinvar/318493 ^@ NM_001089.2(ABCA3):c.2268C>T (p.Ala756=) http://identifiers.org/clinvar/318498 ^@ NM_001089.2(ABCA3):c.2026G>A (p.Gly676Ser) http://identifiers.org/clinvar/318499 ^@ NM_001089.2(ABCA3):c.1897-7G>A http://identifiers.org/clinvar/308598 ^@ NM_017641.3(KIF21A):c.-165G>T http://identifiers.org/clinvar/308599 ^@ NM_017641.3(KIF21A):c.-195A>G http://identifiers.org/clinvar/302727 ^@ NM_000190.3(HMBS):c.210+5C>A http://identifiers.org/clinvar/318502 ^@ NM_001089.2(ABCA3):c.1869C>T (p.Val623=) http://identifiers.org/clinvar/318558 ^@ NM_001089.2(ABCA3):c.1183C>T (p.Arg395Trp) http://identifiers.org/clinvar/302733 ^@ NM_000190.3(HMBS):c.723C>T (p.Pro241=) http://identifiers.org/clinvar/302738 ^@ NM_000190.3(HMBS):c.*194A>G http://identifiers.org/clinvar/302085 ^@ NM_001080463.1(DYNC2H1):c.10042A>C (p.Arg3348=) http://identifiers.org/clinvar/318344 ^@ NM_001039.3(SCNN1G):c.-31A>G http://identifiers.org/clinvar/318348 ^@ NM_001039.3(SCNN1G):c.446G>C (p.Gly149Ala) http://identifiers.org/clinvar/318351 ^@ NM_001039.3(SCNN1G):c.539G>A (p.Arg180Gln) http://identifiers.org/clinvar/318353 ^@ NM_001039.3(SCNN1G):c.776C>A (p.Thr259Asn) http://identifiers.org/clinvar/302739 ^@ NM_001382.3(DPAGT1):c.*484T>C http://identifiers.org/clinvar/302740 ^@ NM_001382.3(DPAGT1):c.*427T>G http://identifiers.org/clinvar/308608 ^@ NM_017641.3(KIF21A):c.-411G>A http://identifiers.org/clinvar/318568 ^@ NM_001089.2(ABCA3):c.753C>T (p.Ile251=) http://identifiers.org/clinvar/302087 ^@ NM_001080463.1(DYNC2H1):c.10173T>G (p.Ala3391=) http://identifiers.org/clinvar/318570 ^@ NM_001089.2(ABCA3):c.654G>C (p.Val218=) http://identifiers.org/clinvar/318359 ^@ NM_001039.3(SCNN1G):c.1589A>G (p.Asn530Ser) http://identifiers.org/clinvar/318363 ^@ NM_001039.3(SCNN1G):c.*159T>G http://identifiers.org/clinvar/308609 ^@ NM_198578.3(LRRK2):c.-44G>A http://identifiers.org/clinvar/308613 ^@ NM_198578.3(LRRK2):c.1102-10C>A http://identifiers.org/clinvar/302093 ^@ NM_001080463.1(DYNC2H1):c.10500C>G (p.Leu3500=) http://identifiers.org/clinvar/308615 ^@ NM_198578.3(LRRK2):c.1446A>G (p.Ala482=) http://identifiers.org/clinvar/308618 ^@ NM_198578.3(LRRK2):c.2588A>G (p.Asn863Ser) http://identifiers.org/clinvar/302745 ^@ NM_001382.3(DPAGT1):c.*184G>A http://identifiers.org/clinvar/308623 ^@ NM_198578.3(LRRK2):c.3026A>C (p.His1009Pro) http://identifiers.org/clinvar/318365 ^@ NM_001039.3(SCNN1G):c.*268G>A http://identifiers.org/clinvar/308627 ^@ NM_198578.3(LRRK2):c.3595C>A (p.Arg1199=) http://identifiers.org/clinvar/302747 ^@ NM_001382.3(DPAGT1):c.918-4G>A http://identifiers.org/clinvar/318372 ^@ NM_001039.3(SCNN1G):c.*675A>G http://identifiers.org/clinvar/318374 ^@ NM_001039.3(SCNN1G):c.*789_*790delTCinsCT http://identifiers.org/clinvar/308629 ^@ NM_198578.3(LRRK2):c.3777+7C>T http://identifiers.org/clinvar/308631 ^@ NM_198578.3(LRRK2):c.3864G>A (p.Met1288Ile) http://identifiers.org/clinvar/308633 ^@ NM_198578.3(LRRK2):c.4317+12delT http://identifiers.org/clinvar/308634 ^@ NM_198578.3(LRRK2):c.4627A>G (p.Ile1543Val) http://identifiers.org/clinvar/308635 ^@ NM_198578.3(LRRK2):c.4828-9A>T http://identifiers.org/clinvar/302096 ^@ NM_001080463.1(DYNC2H1):c.10794G>A (p.Thr3598=) http://identifiers.org/clinvar/318376 ^@ NM_001039.3(SCNN1G):c.*979T>C http://identifiers.org/clinvar/318378 ^@ NM_001039.3(SCNN1G):c.*1198A>T http://identifiers.org/clinvar/302107 ^@ NM_001080463.1(DYNC2H1):c.11060C>T (p.Ala3687Val) http://identifiers.org/clinvar/302109 ^@ NM_001080463.1(DYNC2H1):c.11308G>A (p.Ala3770Thr) http://identifiers.org/clinvar/308640 ^@ NM_198578.3(LRRK2):c.5713G>C (p.Val1905Leu) http://identifiers.org/clinvar/318380 ^@ NM_001039.3(SCNN1G):c.*1369C>T http://identifiers.org/clinvar/308643 ^@ NM_198578.3(LRRK2):c.6688G>A (p.Glu2230Lys) http://identifiers.org/clinvar/308644 ^@ NM_198578.3(LRRK2):c.6801C>T (p.Thr2267=) http://identifiers.org/clinvar/302749 ^@ NM_001382.3(DPAGT1):c.485A>G (p.His162Arg) http://identifiers.org/clinvar/302750 ^@ NM_001382.3(DPAGT1):c.283-9C>T http://identifiers.org/clinvar/302111 ^@ NM_001080463.1(DYNC2H1):c.11599C>A (p.Arg3867=) http://identifiers.org/clinvar/318577 ^@ NM_001089.2(ABCA3):c.143C>T (p.Ser48Leu) http://identifiers.org/clinvar/318580 ^@ NM_001089.2(ABCA3):c.-29C>G http://identifiers.org/clinvar/308646 ^@ NM_198578.3(LRRK2):c.7062C>T (p.Ile2354=) http://identifiers.org/clinvar/302120 ^@ NM_001080463.1(DYNC2H1):c.12387+7G>A http://identifiers.org/clinvar/318583 ^@ NM_001089.2(ABCA3):c.-124C>T http://identifiers.org/clinvar/308647 ^@ NM_198578.3(LRRK2):c.7190T>C (p.Met2397Thr) http://identifiers.org/clinvar/302751 ^@ NM_001382.3(DPAGT1):c.125G>A (p.Cys42Tyr) http://identifiers.org/clinvar/318400 ^@ NM_000336.2(SCNN1B):c.-150C>G http://identifiers.org/clinvar/302765 ^@ NM_005188.3(CBL):c.-126_-125insTGG http://identifiers.org/clinvar/318419 ^@ NM_000336.2(SCNN1B):c.246C>T (p.Ser82=) http://identifiers.org/clinvar/318433 ^@ NM_000336.2(SCNN1B):c.1257C>T (p.Asp419=) http://identifiers.org/clinvar/302768 ^@ NM_005188.3(CBL):c.-124G>T http://identifiers.org/clinvar/318438 ^@ NM_000336.2(SCNN1B):c.1404+15G>A http://identifiers.org/clinvar/302127 ^@ NM_001080463.1(DYNC2H1):c.12725A>G (p.Asn4242Ser) http://identifiers.org/clinvar/302758 ^@ NM_005188.3(CBL):c.-97_-95dupGGC http://identifiers.org/clinvar/318447 ^@ NM_000336.2(SCNN1B):c.1900G>C (p.Asp634His) http://identifiers.org/clinvar/318448 ^@ NM_000336.2(SCNN1B):c.*20G>A http://identifiers.org/clinvar/308648 ^@ NM_198578.3(LRRK2):c.7483G>A (p.Val2495Ile) http://identifiers.org/clinvar/308653 ^@ NM_198578.3(LRRK2):c.*148T>C http://identifiers.org/clinvar/318449 ^@ NM_000336.2(SCNN1B):c.*94G>A http://identifiers.org/clinvar/302133 ^@ NM_001080463.1(DYNC2H1):c.*265C>T http://identifiers.org/clinvar/302141 ^@ NM_001025389.1(AMPD3):c.-200G>A http://identifiers.org/clinvar/302142 ^@ NM_001025389.1(AMPD3):c.-103T>C http://identifiers.org/clinvar/302772 ^@ NM_005188.3(CBL):c.-96G>A http://identifiers.org/clinvar/318451 ^@ NM_000336.2(SCNN1B):c.*278C>T http://identifiers.org/clinvar/302779 ^@ NM_005188.3(CBL):c.1227+10T>C http://identifiers.org/clinvar/302781 ^@ NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) http://identifiers.org/clinvar/318458 ^@ NM_153603.3(COG7):c.*187A>G http://identifiers.org/clinvar/302784 ^@ NM_005188.3(CBL):c.1967G>A (p.Gly656Asp) http://identifiers.org/clinvar/302787 ^@ NM_005188.3(CBL):c.2414_2416dupTGG (p.Leu805_Asp806insVal) http://identifiers.org/clinvar/318461 ^@ NM_153603.3(COG7):c.2296C>T (p.Arg766Trp) http://identifiers.org/clinvar/318462 ^@ NM_153603.3(COG7):c.2146G>A (p.Asp716Asn) http://identifiers.org/clinvar/318469 ^@ NM_153603.3(COG7):c.1717C>T (p.Arg573Trp) http://identifiers.org/clinvar/308655 ^@ NM_198578.3(LRRK2):c.*346A>G http://identifiers.org/clinvar/308658 ^@ NM_198578.3(LRRK2):c.*405C>T http://identifiers.org/clinvar/308659 ^@ NM_198578.3(LRRK2):c.*470G>T http://identifiers.org/clinvar/318598 ^@ NM_001089.2(ABCA3):c.-561C>A http://identifiers.org/clinvar/308666 ^@ NM_198578.3(LRRK2):c.*936delT http://identifiers.org/clinvar/318470 ^@ NM_153603.3(COG7):c.1532C>G (p.Ala511Gly) http://identifiers.org/clinvar/318601 ^@ NM_001089.2(ABCA3):c.-659C>T http://identifiers.org/clinvar/318604 ^@ NM_001089.2(ABCA3):c.-673C>T http://identifiers.org/clinvar/302792 ^@ NM_005188.3(CBL):c.*365_*366insGG http://identifiers.org/clinvar/302804 ^@ NM_005188.3(CBL):c.*1447A>G http://identifiers.org/clinvar/302147 ^@ NM_001025389.1(AMPD3):c.271C>T (p.Pro91Ser) http://identifiers.org/clinvar/318471 ^@ NM_153603.3(COG7):c.1475+4G>A http://identifiers.org/clinvar/302149 ^@ NM_001025389.1(AMPD3):c.325A>G (p.Thr109Ala) http://identifiers.org/clinvar/308675 ^@ NM_198578.3(LRRK2):c.*1186C>T http://identifiers.org/clinvar/318473 ^@ NM_153603.3(COG7):c.1410-6G>C http://identifiers.org/clinvar/308676 ^@ NM_198578.3(LRRK2):c.*1279T>C http://identifiers.org/clinvar/308677 ^@ NM_198578.3(LRRK2):c.*1388T>C http://identifiers.org/clinvar/318475 ^@ NM_153603.3(COG7):c.1405A>G (p.Ile469Val) http://identifiers.org/clinvar/318476 ^@ NM_153603.3(COG7):c.1183G>A (p.Val395Met) http://identifiers.org/clinvar/302806 ^@ NM_005188.3(CBL):c.*1594T>A http://identifiers.org/clinvar/308679 ^@ NM_198578.3(LRRK2):c.*1464T>G http://identifiers.org/clinvar/308680 ^@ NM_198578.3(LRRK2):c.*1482A>G http://identifiers.org/clinvar/302807 ^@ NM_005188.3(CBL):c.*1661G>T http://identifiers.org/clinvar/302810 ^@ NM_005188.3(CBL):c.*1732delC http://identifiers.org/clinvar/302151 ^@ NM_001025389.1(AMPD3):c.362C>T (p.Thr121Met) http://identifiers.org/clinvar/318507 ^@ NM_001083614.1(EARS2):c.*2309G>A http://identifiers.org/clinvar/302153 ^@ NM_001025389.1(AMPD3):c.423C>T (p.Ala141=) http://identifiers.org/clinvar/302811 ^@ NM_005188.3(CBL):c.*1733T>G http://identifiers.org/clinvar/318513 ^@ NM_001083614.1(EARS2):c.*1809T>C http://identifiers.org/clinvar/302155 ^@ NM_001025389.1(AMPD3):c.460A>G (p.Ser154Gly) http://identifiers.org/clinvar/308686 ^@ NM_153026.2(PRICKLE1):c.*1044C>T http://identifiers.org/clinvar/308688 ^@ NM_153026.2(PRICKLE1):c.*897G>A http://identifiers.org/clinvar/302161 ^@ NM_001025389.1(AMPD3):c.885C>T (p.Ser295=) http://identifiers.org/clinvar/318525 ^@ NM_001083614.1(EARS2):c.*1099A>G http://identifiers.org/clinvar/318532 ^@ NM_001083614.1(EARS2):c.*535delA http://identifiers.org/clinvar/318537 ^@ NM_001083614.1(EARS2):c.*155A>G http://identifiers.org/clinvar/308692 ^@ NM_153026.2(PRICKLE1):c.*552delA http://identifiers.org/clinvar/308694 ^@ NM_153026.2(PRICKLE1):c.*527G>T http://identifiers.org/clinvar/302814 ^@ NM_005188.3(CBL):c.*1915T>C http://identifiers.org/clinvar/318540 ^@ NM_001083614.1(EARS2):c.1489-14C>T http://identifiers.org/clinvar/302815 ^@ NM_005188.3(CBL):c.*1918C>T http://identifiers.org/clinvar/302164 ^@ NM_001025389.1(AMPD3):c.1080C>T (p.Asp360=) http://identifiers.org/clinvar/302823 ^@ NM_005188.3(CBL):c.*2423C>T http://identifiers.org/clinvar/318541 ^@ NM_001083614.1(EARS2):c.1488+15C>T http://identifiers.org/clinvar/318544 ^@ NM_001083614.1(EARS2):c.1352G>T (p.Gly451Val) http://identifiers.org/clinvar/302824 ^@ NM_005188.3(CBL):c.*2554G>C http://identifiers.org/clinvar/302828 ^@ NM_005188.3(CBL):c.*3026C>T http://identifiers.org/clinvar/318556 ^@ NM_001083614.1(EARS2):c.263C>A (p.Ala88Glu) http://identifiers.org/clinvar/318609 ^@ NM_020705.2(TBC1D24):c.-36G>A http://identifiers.org/clinvar/318613 ^@ NM_020705.2(TBC1D24):c.232G>A (p.Val78Met) http://identifiers.org/clinvar/302836 ^@ NM_005188.3(CBL):c.*3437C>T http://identifiers.org/clinvar/302837 ^@ NM_005188.3(CBL):c.*3578A>T http://identifiers.org/clinvar/308695 ^@ NM_153026.2(PRICKLE1):c.*430C>G http://identifiers.org/clinvar/318618 ^@ NM_020705.2(TBC1D24):c.1323C>T (p.Ile441=) http://identifiers.org/clinvar/308700 ^@ NM_153026.2(PRICKLE1):c.*91T>C http://identifiers.org/clinvar/318625 ^@ NM_020705.2(TBC1D24):c.*188C>T http://identifiers.org/clinvar/302846 ^@ NM_005188.3(CBL):c.*4118A>G http://identifiers.org/clinvar/302849 ^@ NM_005188.3(CBL):c.*4227C>T http://identifiers.org/clinvar/308702 ^@ NM_153026.2(PRICKLE1):c.*46G>C http://identifiers.org/clinvar/318626 ^@ NM_020705.2(TBC1D24):c.*366A>T http://identifiers.org/clinvar/308703 ^@ NM_153026.2(PRICKLE1):c.2212A>G (p.Thr738Ala) http://identifiers.org/clinvar/302860 ^@ NM_005188.3(CBL):c.*5008C>G http://identifiers.org/clinvar/302863 ^@ NM_005188.3(CBL):c.*5134G>A http://identifiers.org/clinvar/308705 ^@ NM_153026.2(PRICKLE1):c.1225G>A (p.Ala409Thr) http://identifiers.org/clinvar/302867 ^@ NM_005188.3(CBL):c.*5648T>C http://identifiers.org/clinvar/302876 ^@ NM_005188.3(CBL):c.*5986delT http://identifiers.org/clinvar/302168 ^@ NM_001025389.1(AMPD3):c.1267-13C>A http://identifiers.org/clinvar/308708 ^@ NM_153026.2(PRICKLE1):c.435G>A (p.Ala145=) http://identifiers.org/clinvar/302172 ^@ NM_001025389.1(AMPD3):c.1513A>G (p.Ile505Val) http://identifiers.org/clinvar/302174 ^@ NM_001025389.1(AMPD3):c.1600G>A (p.Asp534Asn) http://identifiers.org/clinvar/302178 ^@ NM_001025389.1(AMPD3):c.*121delT http://identifiers.org/clinvar/308709 ^@ NM_153026.2(PRICKLE1):c.-33G>A http://identifiers.org/clinvar/302886 ^@ NM_005188.3(CBL):c.*6542T>G http://identifiers.org/clinvar/302891 ^@ NM_005188.3(CBL):c.*6767C>G http://identifiers.org/clinvar/318630 ^@ NM_020705.2(TBC1D24):c.*528C>T http://identifiers.org/clinvar/318632 ^@ NM_020705.2(TBC1D24):c.*559G>A http://identifiers.org/clinvar/308711 ^@ NM_153026.2(PRICKLE1):c.-114_-107dupCGCAGCCC http://identifiers.org/clinvar/308712 ^@ NM_153026.2(PRICKLE1):c.-142G>A http://identifiers.org/clinvar/302893 ^@ NM_005188.3(CBL):c.*6980T>C http://identifiers.org/clinvar/318634 ^@ NM_020705.2(TBC1D24):c.*732A>G http://identifiers.org/clinvar/302898 ^@ NM_005188.3(CBL):c.*7167A>C http://identifiers.org/clinvar/302896 ^@ NM_005188.3(CBL):c.*7173delA http://identifiers.org/clinvar/302902 ^@ NM_005188.3(CBL):c.*7559C>G http://identifiers.org/clinvar/318635 ^@ NM_020705.2(TBC1D24):c.*807G>A http://identifiers.org/clinvar/302905 ^@ NM_005188.3(CBL):c.*7659C>G http://identifiers.org/clinvar/318637 ^@ NM_020705.2(TBC1D24):c.*836C>T http://identifiers.org/clinvar/302908 ^@ NM_005188.3(CBL):c.*7903G>A http://identifiers.org/clinvar/302913 ^@ NM_005188.3(CBL):c.*8017G>A http://identifiers.org/clinvar/302179 ^@ NM_001025389.1(AMPD3):c.*287T>C http://identifiers.org/clinvar/318638 ^@ NM_020705.2(TBC1D24):c.*871G>A http://identifiers.org/clinvar/302180 ^@ NM_001025389.1(AMPD3):c.*431A>G http://identifiers.org/clinvar/308716 ^@ NM_153026.2(PRICKLE1):c.-213G>C http://identifiers.org/clinvar/318639 ^@ NM_020705.2(TBC1D24):c.*1123C>T http://identifiers.org/clinvar/308718 ^@ NM_153026.2(PRICKLE1):c.-246G>A http://identifiers.org/clinvar/308775 ^@ NM_020638.2(FGF23):c.*1886C>A http://identifiers.org/clinvar/318640 ^@ NM_020705.2(TBC1D24):c.*1160G>A http://identifiers.org/clinvar/318651 ^@ NM_020705.2(TBC1D24):c.*1793C>T http://identifiers.org/clinvar/308776 ^@ NM_020638.2(FGF23):c.*1803C>T http://identifiers.org/clinvar/302927 ^@ NG_012235.1:g.12005G>A http://identifiers.org/clinvar/318654 ^@ NM_020705.2(TBC1D24):c.*1814G>C http://identifiers.org/clinvar/302185 ^@ NM_001025389.1(AMPD3):c.*1070A>G http://identifiers.org/clinvar/302186 ^@ NM_001025389.1(AMPD3):c.*1090A>G http://identifiers.org/clinvar/302928 ^@ NM_015645.4(C1QTNF5):c.341G>A (p.Arg114Gln) http://identifiers.org/clinvar/318659 ^@ NM_020705.2(TBC1D24):c.*2001A>G http://identifiers.org/clinvar/302931 ^@ NG_012235.1:g.11404G>A http://identifiers.org/clinvar/308779 ^@ NM_020638.2(FGF23):c.*1429A>T http://identifiers.org/clinvar/308783 ^@ NM_020638.2(FGF23):c.*1049C>T http://identifiers.org/clinvar/308785 ^@ NM_020638.2(FGF23):c.*856C>G http://identifiers.org/clinvar/302187 ^@ NM_001025389.1(AMPD3):c.*1181dupT http://identifiers.org/clinvar/302935 ^@ NG_012235.1:g.11221G>A http://identifiers.org/clinvar/302937 ^@ NG_012235.1:g.10955G>A http://identifiers.org/clinvar/308786 ^@ NM_020638.2(FGF23):c.*664A>T http://identifiers.org/clinvar/318662 ^@ NM_020705.2(TBC1D24):c.*2529A>T http://identifiers.org/clinvar/308790 ^@ NM_020638.2(FGF23):c.*372_*377delAGCAGT http://identifiers.org/clinvar/318666 ^@ NM_020705.2(TBC1D24):c.*2624_*2625dupTT http://identifiers.org/clinvar/308795 ^@ NM_020638.2(FGF23):c.*337_*340delGCAT http://identifiers.org/clinvar/318665 ^@ NM_020705.2(TBC1D24):c.*2625dupT http://identifiers.org/clinvar/318668 ^@ NM_020705.2(TBC1D24):c.*2755G>A http://identifiers.org/clinvar/318674 ^@ NM_020705.2(TBC1D24):c.*2849C>A http://identifiers.org/clinvar/308727 ^@ NM_016123.3(IRAK4):c.613G>A (p.Val205Ile) http://identifiers.org/clinvar/308735 ^@ NM_016123.3(IRAK4):c.*146T>C http://identifiers.org/clinvar/308738 ^@ NM_016123.3(IRAK4):c.*520T>A http://identifiers.org/clinvar/302192 ^@ NM_001025389.1(AMPD3):c.*1681T>C http://identifiers.org/clinvar/302194 ^@ NM_000019.3(ACAT1):c.-28T>A http://identifiers.org/clinvar/308740 ^@ NM_016123.3(IRAK4):c.*608A>G http://identifiers.org/clinvar/308744 ^@ NM_016123.3(IRAK4):c.*1115G>T http://identifiers.org/clinvar/302938 ^@ NG_012235.1:g.10858G>T http://identifiers.org/clinvar/302956 ^@ NM_015645.4(C1QTNF5):c.-1661-14A>C http://identifiers.org/clinvar/302964 ^@ NG_012235.1:g.6951G>A http://identifiers.org/clinvar/318691 ^@ NM_020705.2(TBC1D24):c.*3709C>T http://identifiers.org/clinvar/318696 ^@ NM_020705.2(TBC1D24):c.*3840G>A http://identifiers.org/clinvar/302195 ^@ NM_000019.3(ACAT1):c.-22C>G http://identifiers.org/clinvar/302196 ^@ NM_000019.3(ACAT1):c.-22C>T http://identifiers.org/clinvar/302965 ^@ NG_012235.1:g.6930T>A http://identifiers.org/clinvar/318697 ^@ NM_020705.2(TBC1D24):c.*3845G>C http://identifiers.org/clinvar/318700 ^@ NM_020705.2(TBC1D24):c.*4067C>T http://identifiers.org/clinvar/302197 ^@ NM_000019.3(ACAT1):c.15G>C (p.Ala5=) http://identifiers.org/clinvar/302200 ^@ NM_000019.3(ACAT1):c.532T>C (p.Leu178=) http://identifiers.org/clinvar/308745 ^@ NM_016123.3(IRAK4):c.*1161G>A http://identifiers.org/clinvar/318707 ^@ NM_020705.2(TBC1D24):c.*4535A>G http://identifiers.org/clinvar/302971 ^@ NG_012235.1:g.6069G>C http://identifiers.org/clinvar/318712 ^@ NM_001042432.1(CLN3):c.*99C>T http://identifiers.org/clinvar/318716 ^@ NM_001042432.1(CLN3):c.1209G>A (p.Glu403=) http://identifiers.org/clinvar/318718 ^@ NM_001042432.1(CLN3):c.1033A>T (p.Thr345Ser) http://identifiers.org/clinvar/308749 ^@ NM_016123.3(IRAK4):c.*1325G>A http://identifiers.org/clinvar/308758 ^@ NM_016123.3(IRAK4):c.*1999dupT http://identifiers.org/clinvar/308761 ^@ NM_016123.3(IRAK4):c.*2083C>G http://identifiers.org/clinvar/302205 ^@ NM_000019.3(ACAT1):c.979A>G (p.Ile327Val) http://identifiers.org/clinvar/308764 ^@ NM_016123.3(IRAK4):c.*2345A>G http://identifiers.org/clinvar/318719 ^@ NM_001042432.1(CLN3):c.941G>A (p.Ser314Asn) http://identifiers.org/clinvar/302975 ^@ NG_012235.1:g.5638C>T http://identifiers.org/clinvar/318720 ^@ NM_001042432.1(CLN3):c.837+5G>A http://identifiers.org/clinvar/318725 ^@ NM_001042432.1(CLN3):c.327C>T (p.Leu109=) http://identifiers.org/clinvar/302977 ^@ NM_015645.4(C1QTNF5):c.-2445C>G http://identifiers.org/clinvar/308769 ^@ NM_016123.3(IRAK4):c.*2704C>T http://identifiers.org/clinvar/308809 ^@ NM_020638.2(FGF23):c.-23C>T http://identifiers.org/clinvar/308818 ^@ NM_001017535.1(VDR):c.*2593A>G http://identifiers.org/clinvar/308821 ^@ NM_001017535.1(VDR):c.*2391C>G http://identifiers.org/clinvar/302207 ^@ NM_000019.3(ACAT1):c.1068T>C (p.Phe356=) http://identifiers.org/clinvar/318728 ^@ NM_001042432.1(CLN3):c.-112C>T http://identifiers.org/clinvar/318730 ^@ NM_001042432.1(CLN3):c.-218G>A http://identifiers.org/clinvar/302210 ^@ NM_000019.3(ACAT1):c.1229C>T (p.Ala410Val) http://identifiers.org/clinvar/302216 ^@ NM_000019.3(ACAT1):c.*234_*235delCT http://identifiers.org/clinvar/308822 ^@ NM_001017535.1(VDR):c.*2359C>A http://identifiers.org/clinvar/308829 ^@ NM_001017535.1(VDR):c.*2124dupA http://identifiers.org/clinvar/302219 ^@ NM_000019.3(ACAT1):c.*291A>C http://identifiers.org/clinvar/318732 ^@ NM_003321.4(TUFM):c.*561A>T http://identifiers.org/clinvar/318736 ^@ NM_003321.4(TUFM):c.*370T>G http://identifiers.org/clinvar/302983 ^@ NM_015645.4(C1QTNF5):c.-2680G>A http://identifiers.org/clinvar/302985 ^@ NG_012235.1:g.5104C>T http://identifiers.org/clinvar/302986 ^@ NM_015645.4(C1QTNF5):c.-2701G>A http://identifiers.org/clinvar/302221 ^@ NM_000019.3(ACAT1):c.*344T>C http://identifiers.org/clinvar/302226 ^@ NM_000019.3(ACAT1):c.*553T>A http://identifiers.org/clinvar/308832 ^@ NM_001017535.1(VDR):c.*2117_*2122delAAAAAA http://identifiers.org/clinvar/308848 ^@ NM_001017535.1(VDR):c.*1319C>T http://identifiers.org/clinvar/308850 ^@ NM_001017535.1(VDR):c.*1245_*1249dupCCAGC http://identifiers.org/clinvar/302231 ^@ NM_000019.3(ACAT1):c.*703T>C http://identifiers.org/clinvar/308854 ^@ NM_001017535.1(VDR):c.*1178A>C http://identifiers.org/clinvar/318741 ^@ NM_003321.4(TUFM):c.*37G>A http://identifiers.org/clinvar/308858 ^@ NM_001017535.1(VDR):c.*827C>T http://identifiers.org/clinvar/308859 ^@ NM_001017535.1(VDR):c.*748T>G http://identifiers.org/clinvar/318742 ^@ NM_003321.4(TUFM):c.*24C>T http://identifiers.org/clinvar/302987 ^@ NG_012235.1:g.5073C>T http://identifiers.org/clinvar/318743 ^@ NM_003321.4(TUFM):c.1195-3T>C http://identifiers.org/clinvar/308865 ^@ NM_001017535.1(VDR):c.*408T>C http://identifiers.org/clinvar/318744 ^@ NM_003321.4(TUFM):c.975C>T (p.Leu325=) http://identifiers.org/clinvar/302236 ^@ NM_000051.3(ATM):c.-229C>G http://identifiers.org/clinvar/318749 ^@ NM_003321.4(TUFM):c.759C>T (p.Pro253=) http://identifiers.org/clinvar/302988 ^@ NG_012235.1:g.5053G>A http://identifiers.org/clinvar/302989 ^@ NM_005422.2(TECTA):c.80T>C (p.Leu27Pro) http://identifiers.org/clinvar/302237 ^@ NM_000051.3(ATM):c.-222T>A http://identifiers.org/clinvar/318759 ^@ NM_003321.4(TUFM):c.-51_-49delTCT http://identifiers.org/clinvar/302238 ^@ NM_000051.3(ATM):c.-218T>A http://identifiers.org/clinvar/302243 ^@ NM_000051.3(ATM):c.660G>A (p.Ala220=) http://identifiers.org/clinvar/318768 ^@ NM_173201.3(ATP2A1):c.450C>T (p.Ile150=) http://identifiers.org/clinvar/318769 ^@ NM_173201.3(ATP2A1):c.675C>T (p.Thr225=) http://identifiers.org/clinvar/308872 ^@ NM_001017535.1(VDR):c.*97G>A http://identifiers.org/clinvar/318770 ^@ NM_173201.3(ATP2A1):c.937G>A (p.Ala313Thr) http://identifiers.org/clinvar/318779 ^@ NM_173201.3(ATP2A1):c.1809G>A (p.Pro603=) http://identifiers.org/clinvar/302993 ^@ NM_005422.2(TECTA):c.762T>A (p.Ile254=) http://identifiers.org/clinvar/318780 ^@ NM_173201.3(ATP2A1):c.1935C>T (p.Asn645=) http://identifiers.org/clinvar/318782 ^@ NM_173201.3(ATP2A1):c.2082C>T (p.Tyr694=) http://identifiers.org/clinvar/318784 ^@ NM_173201.3(ATP2A1):c.2285G>A (p.Arg762His) http://identifiers.org/clinvar/302997 ^@ NM_005422.2(TECTA):c.1285G>A (p.Val429Met) http://identifiers.org/clinvar/302998 ^@ NM_005422.2(TECTA):c.1356C>T (p.Ser452=) http://identifiers.org/clinvar/302260 ^@ NM_000051.3(ATM):c.*521delC http://identifiers.org/clinvar/318790 ^@ NM_173201.3(ATP2A1):c.*95_*96delAT http://identifiers.org/clinvar/318793 ^@ NM_173201.3(ATP2A1):c.*287G>A http://identifiers.org/clinvar/302265 ^@ NM_000051.3(ATM):c.*548G>T http://identifiers.org/clinvar/302267 ^@ NM_000051.3(ATM):c.*684T>G http://identifiers.org/clinvar/308874 ^@ NM_001017535.1(VDR):c.1152C>A (p.Ile384=) http://identifiers.org/clinvar/308879 ^@ NM_001017535.1(VDR):c.945G>T (p.Lys315Asn) http://identifiers.org/clinvar/302268 ^@ NM_000051.3(ATM):c.*895dupT http://identifiers.org/clinvar/302269 ^@ NM_000051.3(ATM):c.*1272C>G http://identifiers.org/clinvar/302278 ^@ NM_000051.3(ATM):c.*2199C>G http://identifiers.org/clinvar/303000 ^@ NM_005422.2(TECTA):c.1509C>T (p.Cys503=) http://identifiers.org/clinvar/303002 ^@ NM_005422.2(TECTA):c.1794G>C (p.Pro598=) http://identifiers.org/clinvar/303005 ^@ NM_005422.2(TECTA):c.2179G>C (p.Ala727Pro) http://identifiers.org/clinvar/302280 ^@ NM_000051.3(ATM):c.*2224C>T http://identifiers.org/clinvar/318794 ^@ NM_173201.3(ATP2A1):c.*298C>T http://identifiers.org/clinvar/318799 ^@ NM_001770.5(CD19):c.384C>T (p.Asp128=) http://identifiers.org/clinvar/308884 ^@ NM_001017535.1(VDR):c.278-5C>T http://identifiers.org/clinvar/303010 ^@ NM_005422.2(TECTA):c.2835G>A (p.Gln945=) http://identifiers.org/clinvar/318805 ^@ NM_001770.5(CD19):c.705G>T (p.Pro235=) http://identifiers.org/clinvar/318809 ^@ NM_001770.5(CD19):c.1311C>T (p.Ser437=) http://identifiers.org/clinvar/303018 ^@ NM_005422.2(TECTA):c.3728G>A (p.Arg1243His) http://identifiers.org/clinvar/303020 ^@ NM_005422.2(TECTA):c.3760A>G (p.Met1254Val) http://identifiers.org/clinvar/303023 ^@ NM_005422.2(TECTA):c.4205G>C (p.Cys1402Ser) http://identifiers.org/clinvar/302281 ^@ NM_000051.3(ATM):c.*2479G>A http://identifiers.org/clinvar/318810 ^@ NM_001770.5(CD19):c.1371C>T (p.Asn457=) http://identifiers.org/clinvar/308888 ^@ NM_001017535.1(VDR):c.-12G>C http://identifiers.org/clinvar/308896 ^@ NM_001844.4(COL2A1):c.*295C>T http://identifiers.org/clinvar/308897 ^@ NM_001844.4(COL2A1):c.*158C>A http://identifiers.org/clinvar/308898 ^@ NM_001844.4(COL2A1):c.*136C>T http://identifiers.org/clinvar/303024 ^@ NM_005422.2(TECTA):c.4289A>G (p.Asp1430Gly) http://identifiers.org/clinvar/318813 ^@ NM_001770.5(CD19):c.1580-4C>A http://identifiers.org/clinvar/302308 ^@ NM_002906.3(RDX):c.*1313G>C http://identifiers.org/clinvar/302312 ^@ NM_002906.3(RDX):c.*1285_*1290dupTGTGTA http://identifiers.org/clinvar/303026 ^@ NM_005422.2(TECTA):c.4441A>G (p.Ser1481Gly) http://identifiers.org/clinvar/318817 ^@ NM_001770.5(CD19):c.*100T>C http://identifiers.org/clinvar/318820 ^@ NM_001770.5(CD19):c.*147_*152dupGTGTGT http://identifiers.org/clinvar/302336 ^@ NM_002906.3(RDX):c.*722_*724delATG http://identifiers.org/clinvar/302344 ^@ NM_002906.3(RDX):c.1411C>G (p.Pro471Ala) http://identifiers.org/clinvar/308899 ^@ NM_001844.4(COL2A1):c.*131C>T http://identifiers.org/clinvar/318819 ^@ NM_001770.5(CD19):c.*149_*152dupGTGT http://identifiers.org/clinvar/318821 ^@ NM_001770.5(CD19):c.*151_*152delGT http://identifiers.org/clinvar/302346 ^@ NM_002906.3(RDX):c.1188T>C (p.Ala396=) http://identifiers.org/clinvar/302355 ^@ NM_002906.3(RDX):c.-64-7_-64-6delTT http://identifiers.org/clinvar/303031 ^@ NM_005422.2(TECTA):c.5091G>A (p.Met1697Ile) http://identifiers.org/clinvar/318828 ^@ NM_000034.3(ALDOA):c.150G>A (p.Glu50=) http://identifiers.org/clinvar/302356 ^@ NM_002906.3(RDX):c.-65+12C>T http://identifiers.org/clinvar/308900 ^@ NM_001844.4(COL2A1):c.*120C>G http://identifiers.org/clinvar/318835 ^@ NM_000034.3(ALDOA):c.906C>T (p.Tyr302=) http://identifiers.org/clinvar/318837 ^@ NM_000034.3(ALDOA):c.958A>T (p.Asn320Tyr) http://identifiers.org/clinvar/302365 ^@ NM_002906.3(RDX):c.-305G>T http://identifiers.org/clinvar/302368 ^@ NM_024740.2(ALG9):c.*3954delC http://identifiers.org/clinvar/308903 ^@ NM_001844.4(COL2A1):c.4375C>T (p.Arg1459Cys) http://identifiers.org/clinvar/308904 ^@ NM_001844.4(COL2A1):c.4264C>T (p.Arg1422Trp) http://identifiers.org/clinvar/318840 ^@ NM_000034.3(ALDOA):c.1039G>A (p.Gly347Ser) http://identifiers.org/clinvar/318846 ^@ NM_006662.2(SRCAP):c.-379G>A http://identifiers.org/clinvar/308908 ^@ NM_001844.4(COL2A1):c.3736G>A (p.Gly1246Ser) http://identifiers.org/clinvar/303034 ^@ NM_005422.2(TECTA):c.5550C>G (p.Ile1850Met) http://identifiers.org/clinvar/303037 ^@ NM_005422.2(TECTA):c.5587-15C>G http://identifiers.org/clinvar/308912 ^@ NM_001844.4(COL2A1):c.3327+3G>A http://identifiers.org/clinvar/302373 ^@ NM_024740.2(ALG9):c.*3212C>T http://identifiers.org/clinvar/318852 ^@ NM_006662.2(SRCAP):c.67G>A (p.Gly23Ser) http://identifiers.org/clinvar/318860 ^@ NM_006662.2(SRCAP):c.1228+14G>A http://identifiers.org/clinvar/303041 ^@ NM_005422.2(TECTA):c.5908G>A (p.Ala1970Thr) http://identifiers.org/clinvar/318867 ^@ NM_006662.2(SRCAP):c.2466T>C (p.Asn822=) http://identifiers.org/clinvar/303049 ^@ NM_006918.4(SC5D):c.-94C>G http://identifiers.org/clinvar/308913 ^@ NM_001844.4(COL2A1):c.3244A>G (p.Thr1082Ala) http://identifiers.org/clinvar/318874 ^@ NM_006662.2(SRCAP):c.3519C>T (p.Pro1173=) http://identifiers.org/clinvar/308919 ^@ NM_001844.4(COL2A1):c.2281G>A (p.Ala761Thr) http://identifiers.org/clinvar/308921 ^@ NM_001844.4(COL2A1):c.2046C>T (p.Asp682=) http://identifiers.org/clinvar/308927 ^@ NM_001844.4(COL2A1):c.1366-13C>A http://identifiers.org/clinvar/302375 ^@ NM_024740.2(ALG9):c.*3079C>T http://identifiers.org/clinvar/308928 ^@ NM_001844.4(COL2A1):c.1077C>G (p.Val359=) http://identifiers.org/clinvar/308931 ^@ NM_001844.4(COL2A1):c.803C>T (p.Pro268Leu) http://identifiers.org/clinvar/308939 ^@ NM_001844.4(COL2A1):c.12C>T (p.Leu4=) http://identifiers.org/clinvar/308940 ^@ NM_001844.4(COL2A1):c.-15G>T http://identifiers.org/clinvar/308943 ^@ NM_000289.5(PFKM):c.-176C>T http://identifiers.org/clinvar/308947 ^@ NM_000289.5(PFKM):c.-64C>T http://identifiers.org/clinvar/302378 ^@ NM_024740.2(ALG9):c.*2592T>C http://identifiers.org/clinvar/318876 ^@ NM_006662.2(SRCAP):c.3640A>T (p.Asn1214Tyr) http://identifiers.org/clinvar/318877 ^@ NM_006662.2(SRCAP):c.3699G>A (p.Pro1233=) http://identifiers.org/clinvar/302381 ^@ NM_024740.2(ALG9):c.*2480delC http://identifiers.org/clinvar/302382 ^@ NM_024740.2(ALG9):c.*2479delA http://identifiers.org/clinvar/318879 ^@ NM_006662.2(SRCAP):c.3953G>A (p.Arg1318Gln) http://identifiers.org/clinvar/302383 ^@ NM_024740.2(ALG9):c.*2474_*2475insT http://identifiers.org/clinvar/308950 ^@ NM_000289.5(PFKM):c.638+15C>A http://identifiers.org/clinvar/303050 ^@ NM_006918.4(SC5D):c.-91C>G http://identifiers.org/clinvar/303051 ^@ NM_006918.4(SC5D):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/308952 ^@ NM_000289.5(PFKM):c.1033C>T (p.Arg345Cys) http://identifiers.org/clinvar/303053 ^@ NM_006918.4(SC5D):c.344-8T>C http://identifiers.org/clinvar/318881 ^@ NM_006662.2(SRCAP):c.4170C>T (p.Pro1390=) http://identifiers.org/clinvar/318882 ^@ NM_006662.2(SRCAP):c.4403C>T (p.Ser1468Leu) http://identifiers.org/clinvar/303058 ^@ NM_006918.4(SC5D):c.*263G>A http://identifiers.org/clinvar/303060 ^@ NM_006918.4(SC5D):c.*367A>T http://identifiers.org/clinvar/303067 ^@ NM_006918.4(SC5D):c.*1196T>A http://identifiers.org/clinvar/308954 ^@ NM_000289.5(PFKM):c.1242C>G (p.Gly414=) http://identifiers.org/clinvar/308958 ^@ NM_000289.5(PFKM):c.2201A>G (p.His734Arg) http://identifiers.org/clinvar/308960 ^@ NM_000289.5(PFKM):c.*98G>A http://identifiers.org/clinvar/303073 ^@ NM_006918.4(SC5D):c.*1851C>G http://identifiers.org/clinvar/308965 ^@ NM_003482.3(KMT2D):c.*2804A>G http://identifiers.org/clinvar/302388 ^@ NM_024740.2(ALG9):c.*2456delT http://identifiers.org/clinvar/318889 ^@ NM_006662.2(SRCAP):c.5805C>T (p.Pro1935=) http://identifiers.org/clinvar/318891 ^@ NM_006662.2(SRCAP):c.6715C>T (p.His2239Tyr) http://identifiers.org/clinvar/302389 ^@ NM_024740.2(ALG9):c.*2444_*2449delGTTTTG http://identifiers.org/clinvar/302392 ^@ NM_024740.2(ALG9):c.*2339T>G http://identifiers.org/clinvar/318900 ^@ NM_006662.2(SRCAP):c.8350A>C (p.Thr2784Pro) http://identifiers.org/clinvar/302401 ^@ NM_024740.2(ALG9):c.*1687A>T http://identifiers.org/clinvar/302402 ^@ NM_024740.2(ALG9):c.*1681dupA http://identifiers.org/clinvar/318903 ^@ NM_006662.2(SRCAP):c.8454C>T (p.Pro2818=) http://identifiers.org/clinvar/302405 ^@ NM_024740.2(ALG9):c.*1679delT http://identifiers.org/clinvar/302407 ^@ NM_024740.2(ALG9):c.*1607C>T http://identifiers.org/clinvar/318905 ^@ NM_006662.2(SRCAP):c.8500G>A (p.Gly2834Arg) http://identifiers.org/clinvar/302409 ^@ NM_024740.2(ALG9):c.*1420C>G http://identifiers.org/clinvar/302416 ^@ NM_024740.2(ALG9):c.*788A>G http://identifiers.org/clinvar/302420 ^@ NM_024740.2(ALG9):c.*523T>C http://identifiers.org/clinvar/308971 ^@ NM_003482.3(KMT2D):c.*2208T>C http://identifiers.org/clinvar/308972 ^@ NM_003482.3(KMT2D):c.*2146C>A http://identifiers.org/clinvar/302421 ^@ NM_024740.2(ALG9):c.*365A>G http://identifiers.org/clinvar/302433 ^@ NM_001885.2(CRYAB):c.-21C>T http://identifiers.org/clinvar/318920 ^@ NM_006662.2(SRCAP):c.9307G>A (p.Gly3103Arg) http://identifiers.org/clinvar/318922 ^@ NM_006662.2(SRCAP):c.*22G>T http://identifiers.org/clinvar/318923 ^@ NM_006662.2(SRCAP):c.*47A>G http://identifiers.org/clinvar/318926 ^@ NM_006662.2(SRCAP):c.*358delT http://identifiers.org/clinvar/303078 ^@ NM_006918.4(SC5D):c.*2277A>G http://identifiers.org/clinvar/308974 ^@ NM_003482.3(KMT2D):c.*2044C>A http://identifiers.org/clinvar/302441 ^@ NM_001931.4(DLAT):c.-383T>A http://identifiers.org/clinvar/303082 ^@ NM_006918.4(SC5D):c.*2653A>T http://identifiers.org/clinvar/302444 ^@ NM_001931.4(DLAT):c.-212C>G http://identifiers.org/clinvar/303087 ^@ NM_006918.4(SC5D):c.*2963delG http://identifiers.org/clinvar/308978 ^@ NM_003482.3(KMT2D):c.*1693G>A http://identifiers.org/clinvar/308980 ^@ NM_003482.3(KMT2D):c.*1529G>C http://identifiers.org/clinvar/303089 ^@ NM_006918.4(SC5D):c.*3095G>A http://identifiers.org/clinvar/303091 ^@ NM_006918.4(SC5D):c.*3184A>G http://identifiers.org/clinvar/303093 ^@ NM_006918.4(SC5D):c.*3225G>A http://identifiers.org/clinvar/308982 ^@ NM_003482.3(KMT2D):c.*1322A>G http://identifiers.org/clinvar/303094 ^@ NM_006918.4(SC5D):c.*3312A>T http://identifiers.org/clinvar/318933 ^@ NM_000294.2(PHKG2):c.95+11G>A http://identifiers.org/clinvar/318935 ^@ NM_000294.2(PHKG2):c.318G>T (p.Val106=) http://identifiers.org/clinvar/303096 ^@ NM_006918.4(SC5D):c.*3346G>A http://identifiers.org/clinvar/303098 ^@ NM_006918.4(SC5D):c.*3599C>T http://identifiers.org/clinvar/318942 ^@ NM_000294.2(PHKG2):c.1180G>A (p.Ala394Thr) http://identifiers.org/clinvar/303099 ^@ NM_006918.4(SC5D):c.*3627A>G http://identifiers.org/clinvar/303102 ^@ NM_006918.4(SC5D):c.*3955C>T http://identifiers.org/clinvar/303131 ^@ NM_018400.3(SCN3B):c.*4394C>T http://identifiers.org/clinvar/318943 ^@ NM_000294.2(PHKG2):c.*204C>T http://identifiers.org/clinvar/318945 ^@ NM_000294.2(PHKG2):c.*583G>A http://identifiers.org/clinvar/318957 ^@ NM_001330.3(CTF1):c.588G>T (p.Leu196=) http://identifiers.org/clinvar/308985 ^@ NM_003482.3(KMT2D):c.*1026G>T http://identifiers.org/clinvar/318959 ^@ NM_001330.3(CTF1):c.*23G>A http://identifiers.org/clinvar/302446 ^@ NM_001931.4(DLAT):c.-157G>A http://identifiers.org/clinvar/302447 ^@ NM_001931.4(DLAT):c.-156C>G http://identifiers.org/clinvar/302450 ^@ NM_001931.4(DLAT):c.210G>C (p.Arg70=) http://identifiers.org/clinvar/303132 ^@ NM_018400.3(SCN3B):c.*4390C>T http://identifiers.org/clinvar/302452 ^@ NM_001931.4(DLAT):c.402T>C (p.Thr134=) http://identifiers.org/clinvar/318960 ^@ NM_001330.3(CTF1):c.*247C>T http://identifiers.org/clinvar/318970 ^@ NM_001330.3(CTF1):c.*909C>G http://identifiers.org/clinvar/303135 ^@ NM_018400.3(SCN3B):c.*4265C>A http://identifiers.org/clinvar/303136 ^@ NM_018400.3(SCN3B):c.*4191C>A http://identifiers.org/clinvar/318971 ^@ NM_001330.3(CTF1):c.*920T>A http://identifiers.org/clinvar/303147 ^@ NM_018400.3(SCN3B):c.*2722G>A http://identifiers.org/clinvar/303148 ^@ NM_018400.3(SCN3B):c.*2629C>T http://identifiers.org/clinvar/302454 ^@ NM_001931.4(DLAT):c.606G>A (p.Ser202=) http://identifiers.org/clinvar/318972 ^@ NM_001330.3(CTF1):c.*981dupT http://identifiers.org/clinvar/302456 ^@ NM_001931.4(DLAT):c.946C>T (p.Pro316Ser) http://identifiers.org/clinvar/302457 ^@ NM_001931.4(DLAT):c.974C>T (p.Pro325Leu) http://identifiers.org/clinvar/308990 ^@ NM_003482.3(KMT2D):c.*362C>T http://identifiers.org/clinvar/318974 ^@ NM_024006.5(VKORC1):c.*145T>C http://identifiers.org/clinvar/308992 ^@ NM_003482.3(KMT2D):c.*296delG http://identifiers.org/clinvar/318975 ^@ NM_024006.5(VKORC1):c.358C>T (p.Leu120=) http://identifiers.org/clinvar/303149 ^@ NM_018400.3(SCN3B):c.*2603T>A http://identifiers.org/clinvar/318977 ^@ NM_024006.5(VKORC1):c.36G>A (p.Arg12=) http://identifiers.org/clinvar/318983 ^@ NM_004960.3(FUS):c.192A>G (p.Thr64=) http://identifiers.org/clinvar/302463 ^@ NM_001931.4(DLAT):c.1735A>G (p.Ile579Val) http://identifiers.org/clinvar/318985 ^@ NM_004960.3(FUS):c.524-5C>T http://identifiers.org/clinvar/308997 ^@ NM_003482.3(KMT2D):c.*69G>T http://identifiers.org/clinvar/309003 ^@ NM_003482.3(KMT2D):c.15085A>C (p.Met5029Leu) http://identifiers.org/clinvar/303151 ^@ NM_018400.3(SCN3B):c.*2516G>A http://identifiers.org/clinvar/318986 ^@ NM_004960.3(FUS):c.684_686dupCGG (p.Gly231_Tyr232insGly) http://identifiers.org/clinvar/318987 ^@ NM_004960.3(FUS):c.764+12A>C http://identifiers.org/clinvar/318993 ^@ NM_004960.3(FUS):c.*41G>A http://identifiers.org/clinvar/302466 ^@ NM_001931.4(DLAT):c.*220T>C http://identifiers.org/clinvar/302470 ^@ NM_001931.4(DLAT):c.*622C>A http://identifiers.org/clinvar/302473 ^@ NM_001931.4(DLAT):c.*981G>A http://identifiers.org/clinvar/302480 ^@ NM_001931.4(DLAT):c.*1704A>G http://identifiers.org/clinvar/309008 ^@ NM_003482.3(KMT2D):c.14202C>T (p.Asp4734=) http://identifiers.org/clinvar/318997 ^@ NM_004960.3(FUS):c.*356G>A http://identifiers.org/clinvar/309009 ^@ NM_003482.3(KMT2D):c.14161C>T (p.Arg4721Cys) http://identifiers.org/clinvar/309013 ^@ NM_003482.3(KMT2D):c.13457A>G (p.Glu4486Gly) http://identifiers.org/clinvar/319004 ^@ NM_004960.3(FUS):c.*770G>C http://identifiers.org/clinvar/309026 ^@ NM_003482.3(KMT2D):c.11671G>A (p.Ala3891Thr) http://identifiers.org/clinvar/309036 ^@ NM_003482.3(KMT2D):c.9958G>A (p.Ala3320Thr) http://identifiers.org/clinvar/309037 ^@ NM_003482.3(KMT2D):c.9709G>A (p.Glu3237Lys) http://identifiers.org/clinvar/303166 ^@ NM_018400.3(SCN3B):c.*1686T>C http://identifiers.org/clinvar/319009 ^@ NM_004960.3(FUS):c.*1004dupA http://identifiers.org/clinvar/302484 ^@ NM_003002.3(SDHD):c.*71C>A http://identifiers.org/clinvar/302487 ^@ NM_003002.3(SDHD):c.*340A>G http://identifiers.org/clinvar/319018 ^@ NM_004960.3(FUS):c.*1580A>G http://identifiers.org/clinvar/319019 ^@ NM_004960.3(FUS):c.*1581T>C http://identifiers.org/clinvar/309039 ^@ NM_003482.3(KMT2D):c.8813C>T (p.Pro2938Leu) http://identifiers.org/clinvar/319020 ^@ NM_004960.3(FUS):c.*1593C>T http://identifiers.org/clinvar/319021 ^@ NM_004960.3(FUS):c.*1601C>T http://identifiers.org/clinvar/319026 ^@ NM_004960.3(FUS):c.*1810C>A http://identifiers.org/clinvar/302488 ^@ NM_003002.3(SDHD):c.*352C>G http://identifiers.org/clinvar/302489 ^@ NM_003002.3(SDHD):c.*369A>G http://identifiers.org/clinvar/309045 ^@ NM_003482.3(KMT2D):c.7607T>C (p.Phe2536Ser) http://identifiers.org/clinvar/319049 ^@ NM_004960.3(FUS):c.*3174T>G http://identifiers.org/clinvar/319050 ^@ NM_004960.3(FUS):c.*3230A>G http://identifiers.org/clinvar/309048 ^@ NM_003482.3(KMT2D):c.7060C>T (p.Pro2354Ser) http://identifiers.org/clinvar/309050 ^@ NM_003482.3(KMT2D):c.6868G>A (p.Glu2290Lys) http://identifiers.org/clinvar/303168 ^@ NM_018400.3(SCN3B):c.*1542A>C http://identifiers.org/clinvar/319051 ^@ NM_004960.3(FUS):c.*3231T>C http://identifiers.org/clinvar/302498 ^@ NM_000317.2(PTS):c.163+14T>C http://identifiers.org/clinvar/319055 ^@ NM_003041.3(SLC5A2):c.469-3A>T http://identifiers.org/clinvar/319059 ^@ NM_003041.3(SLC5A2):c.1137C>T (p.Arg379=) http://identifiers.org/clinvar/319066 ^@ NM_003041.3(SLC5A2):c.1450-4G>A http://identifiers.org/clinvar/302500 ^@ NM_000039.2(APOA1):c.*19C>G http://identifiers.org/clinvar/302501 ^@ NM_000039.2(APOA1):c.732C>G (p.Pro244=) http://identifiers.org/clinvar/309053 ^@ NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) http://identifiers.org/clinvar/319067 ^@ NM_003041.3(SLC5A2):c.1455C>T (p.Ala485=) http://identifiers.org/clinvar/309062 ^@ NM_003482.3(KMT2D):c.4694C>T (p.Ala1565Val) http://identifiers.org/clinvar/302507 ^@ NM_000039.2(APOA1):c.181G>A (p.Ala61Thr) http://identifiers.org/clinvar/309065 ^@ NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) http://identifiers.org/clinvar/309068 ^@ NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) http://identifiers.org/clinvar/303170 ^@ NM_018400.3(SCN3B):c.*1434G>A http://identifiers.org/clinvar/309069 ^@ NM_003482.3(KMT2D):c.3471C>T (p.Pro1157=) http://identifiers.org/clinvar/309074 ^@ NM_003482.3(KMT2D):c.3180G>T (p.Lys1060Asn) http://identifiers.org/clinvar/303177 ^@ NM_018400.3(SCN3B):c.*1095G>A http://identifiers.org/clinvar/303178 ^@ NM_018400.3(SCN3B):c.*1007dupT http://identifiers.org/clinvar/309077 ^@ NM_003482.3(KMT2D):c.2995A>G (p.Met999Val) http://identifiers.org/clinvar/319069 ^@ NM_003041.3(SLC5A2):c.1603T>G (p.Phe535Val) http://identifiers.org/clinvar/302510 ^@ NM_000039.2(APOA1):c.28G>A (p.Val10Met) http://identifiers.org/clinvar/309080 ^@ NM_003482.3(KMT2D):c.2671T>G (p.Leu891Val) http://identifiers.org/clinvar/302514 ^@ NM_001680.4(FXYD2):c.*188C>T http://identifiers.org/clinvar/303183 ^@ NM_018400.3(SCN3B):c.*855A>C http://identifiers.org/clinvar/303187 ^@ NM_018400.3(SCN3B):c.*509G>A http://identifiers.org/clinvar/303194 ^@ NM_018400.3(SCN3B):c.-43G>A http://identifiers.org/clinvar/319071 ^@ NM_003041.3(SLC5A2):c.1692G>A (p.Arg564=) http://identifiers.org/clinvar/319073 ^@ NM_003041.3(SLC5A2):c.1773G>T (p.Glu591Asp) http://identifiers.org/clinvar/319079 ^@ NM_003041.3(SLC5A2):c.1895A>C (p.Glu632Ala) http://identifiers.org/clinvar/302520 ^@ NM_001680.4(FXYD2):c.*6+6C>A http://identifiers.org/clinvar/302521 ^@ NM_001680.4(FXYD2):c.*1C>T http://identifiers.org/clinvar/302526 ^@ NM_001680.4(FXYD2):c.28G>A (p.Gly10Ser) http://identifiers.org/clinvar/303196 ^@ NM_018400.3(SCN3B):c.-179C>T http://identifiers.org/clinvar/303197 ^@ NM_018400.3(SCN3B):c.-181A>G http://identifiers.org/clinvar/302527 ^@ NM_001680.4(FXYD2):c.-10A>G http://identifiers.org/clinvar/303198 ^@ NM_018400.3(SCN3B):c.-194G>T http://identifiers.org/clinvar/319078 ^@ NM_003041.3(SLC5A2):c.1895_1897delAGG (p.Glu632del) http://identifiers.org/clinvar/319080 ^@ NM_003041.3(SLC5A2):c.1902G>A (p.Ala634=) http://identifiers.org/clinvar/303199 ^@ NM_018400.3(SCN3B):c.-234G>A http://identifiers.org/clinvar/303212 ^@ NM_018400.3(SCN3B):c.-692G>C http://identifiers.org/clinvar/303219 ^@ NM_022370.3(ROBO3):c.46G>A (p.Ala16Thr) http://identifiers.org/clinvar/309082 ^@ NM_003482.3(KMT2D):c.2406G>A (p.Glu802=) http://identifiers.org/clinvar/303220 ^@ NM_022370.3(ROBO3):c.160+12C>T http://identifiers.org/clinvar/319083 ^@ NM_003041.3(SLC5A2):c.1982T>C (p.Met661Thr) http://identifiers.org/clinvar/303234 ^@ NM_022370.3(ROBO3):c.1189C>A (p.Pro397Thr) http://identifiers.org/clinvar/303236 ^@ NM_022370.3(ROBO3):c.1267G>A (p.Val423Met) http://identifiers.org/clinvar/303237 ^@ NM_022370.3(ROBO3):c.1331-3C>T http://identifiers.org/clinvar/303252 ^@ NM_022370.3(ROBO3):c.2328G>A (p.Ala776=) http://identifiers.org/clinvar/302530 ^@ NM_001558.3(IL10RA):c.25C>T (p.Leu9=) http://identifiers.org/clinvar/302535 ^@ NM_001558.3(IL10RA):c.80C>T (p.Pro27Leu) http://identifiers.org/clinvar/302538 ^@ NM_001558.3(IL10RA):c.180G>A (p.Ala60=) http://identifiers.org/clinvar/302540 ^@ NM_001558.3(IL10RA):c.188+3G>A http://identifiers.org/clinvar/309086 ^@ NM_003482.3(KMT2D):c.1259-13G>A http://identifiers.org/clinvar/302541 ^@ NM_001558.3(IL10RA):c.295A>T (p.Arg99Ter) http://identifiers.org/clinvar/319084 ^@ NM_003041.3(SLC5A2):c.*63G>A http://identifiers.org/clinvar/309094 ^@ NM_021044.3(DHH):c.*219G>A http://identifiers.org/clinvar/319085 ^@ NM_000243.2(MEFV):c.*1080A>G http://identifiers.org/clinvar/302543 ^@ NM_001558.3(IL10RA):c.336C>T (p.Thr112=) http://identifiers.org/clinvar/302555 ^@ NM_001558.3(IL10RA):c.1188G>A (p.Arg396=) http://identifiers.org/clinvar/309095 ^@ NM_021044.3(DHH):c.*159G>T http://identifiers.org/clinvar/319088 ^@ NM_000243.2(MEFV):c.*836_*837insACT http://identifiers.org/clinvar/309096 ^@ NM_021044.3(DHH):c.*110G>C http://identifiers.org/clinvar/303254 ^@ NM_022370.3(ROBO3):c.2511C>G (p.Pro837=) http://identifiers.org/clinvar/309100 ^@ NM_021044.3(DHH):c.726C>T (p.Phe242=) http://identifiers.org/clinvar/319090 ^@ NM_000243.2(MEFV):c.*779delT http://identifiers.org/clinvar/319092 ^@ NM_000243.2(MEFV):c.*743T>C http://identifiers.org/clinvar/303259 ^@ NM_022370.3(ROBO3):c.2779+9C>T http://identifiers.org/clinvar/309102 ^@ NM_021044.3(DHH):c.576G>C (p.Leu192=) http://identifiers.org/clinvar/302566 ^@ NM_001558.3(IL10RA):c.*756T>C http://identifiers.org/clinvar/302570 ^@ NM_001558.3(IL10RA):c.*968G>A http://identifiers.org/clinvar/309103 ^@ NM_021044.3(DHH):c.543C>T (p.His181=) http://identifiers.org/clinvar/319105 ^@ NM_000243.2(MEFV):c.*169C>T http://identifiers.org/clinvar/309106 ^@ NM_021044.3(DHH):c.-18C>T http://identifiers.org/clinvar/309124 ^@ NM_000217.2(KCNA1):c.-1034C>T http://identifiers.org/clinvar/309126 ^@ NM_000217.2(KCNA1):c.-959C>T http://identifiers.org/clinvar/309127 ^@ NM_000217.2(KCNA1):c.-861_-860delAG http://identifiers.org/clinvar/319110 ^@ NM_000243.2(MEFV):c.1527C>T (p.Leu509=) http://identifiers.org/clinvar/309133 ^@ NM_000217.2(KCNA1):c.-478dupG http://identifiers.org/clinvar/309138 ^@ NM_000217.2(KCNA1):c.-230C>G http://identifiers.org/clinvar/319111 ^@ NM_000243.2(MEFV):c.1522C>T (p.Leu508=) http://identifiers.org/clinvar/309141 ^@ NM_000217.2(KCNA1):c.-110G>A http://identifiers.org/clinvar/303273 ^@ NM_022370.3(ROBO3):c.3707G>T (p.Gly1236Val) http://identifiers.org/clinvar/309152 ^@ NM_000217.2(KCNA1):c.*228A>C http://identifiers.org/clinvar/302578 ^@ NM_001558.3(IL10RA):c.*1684G>A http://identifiers.org/clinvar/302583 ^@ NM_174934.3(SCN4B):c.*3549G>A http://identifiers.org/clinvar/303275 ^@ NM_022370.3(ROBO3):c.3822G>A (p.Pro1274=) http://identifiers.org/clinvar/302589 ^@ NM_174934.3(SCN4B):c.*2939G>C http://identifiers.org/clinvar/302592 ^@ NM_174934.3(SCN4B):c.*2876T>C http://identifiers.org/clinvar/303276 ^@ NM_022370.3(ROBO3):c.3886C>G (p.Arg1296Gly) http://identifiers.org/clinvar/319112 ^@ NM_000243.2(MEFV):c.1513G>T (p.Asp505Tyr) http://identifiers.org/clinvar/303280 ^@ NM_022370.3(ROBO3):c.4098T>C (p.Ser1366=) http://identifiers.org/clinvar/303279 ^@ NM_022370.3(ROBO3):c.4100_4105delGGAGTC (p.Arg1367_Ser1368del) http://identifiers.org/clinvar/303290 ^@ NM_152722.4(HEPACAM):c.*1799T>C http://identifiers.org/clinvar/303291 ^@ NM_152722.4(HEPACAM):c.*1614A>T http://identifiers.org/clinvar/302595 ^@ NM_174934.3(SCN4B):c.*2591G>T http://identifiers.org/clinvar/319114 ^@ NM_000243.2(MEFV):c.1173T>C (p.Asp391=) http://identifiers.org/clinvar/302609 ^@ NM_174934.3(SCN4B):c.*1820G>A http://identifiers.org/clinvar/309154 ^@ NM_000217.2(KCNA1):c.*406C>T http://identifiers.org/clinvar/319128 ^@ NM_032444.2(SLX4):c.*811G>C http://identifiers.org/clinvar/302612 ^@ NM_174934.3(SCN4B):c.*1430G>A http://identifiers.org/clinvar/302613 ^@ NM_174934.3(SCN4B):c.*1410C>T http://identifiers.org/clinvar/302616 ^@ NM_174934.3(SCN4B):c.*1193T>C http://identifiers.org/clinvar/309158 ^@ NM_000217.2(KCNA1):c.*592C>A http://identifiers.org/clinvar/309169 ^@ NM_000217.2(KCNA1):c.*1460_*1463delCAAA http://identifiers.org/clinvar/309168 ^@ NM_000217.2(KCNA1):c.*1460_*1463dupCAAA http://identifiers.org/clinvar/303294 ^@ NM_152722.4(HEPACAM):c.*1289_*1291delCCT http://identifiers.org/clinvar/303298 ^@ NM_152722.4(HEPACAM):c.*1033A>G http://identifiers.org/clinvar/309175 ^@ NM_000217.2(KCNA1):c.*1681T>C http://identifiers.org/clinvar/319132 ^@ NM_032444.2(SLX4):c.*655G>A http://identifiers.org/clinvar/309179 ^@ NM_000217.2(KCNA1):c.*2005G>A http://identifiers.org/clinvar/303302 ^@ NM_152722.4(HEPACAM):c.*629G>A http://identifiers.org/clinvar/302618 ^@ NM_174934.3(SCN4B):c.*1071T>C http://identifiers.org/clinvar/302632 ^@ NM_174934.3(SCN4B):c.*868C>A http://identifiers.org/clinvar/309181 ^@ NM_000217.2(KCNA1):c.*2123A>G http://identifiers.org/clinvar/303307 ^@ NM_152722.4(HEPACAM):c.*459_*460insCC http://identifiers.org/clinvar/309183 ^@ NM_000217.2(KCNA1):c.*2245C>G http://identifiers.org/clinvar/309185 ^@ NM_000217.2(KCNA1):c.*2277_*2278delCC http://identifiers.org/clinvar/319135 ^@ NM_032444.2(SLX4):c.*469A>T http://identifiers.org/clinvar/319138 ^@ NM_032444.2(SLX4):c.*298_*301delTTTT http://identifiers.org/clinvar/302637 ^@ NM_174934.3(SCN4B):c.*670G>T http://identifiers.org/clinvar/302638 ^@ NM_174934.3(SCN4B):c.*524dupT http://identifiers.org/clinvar/309189 ^@ NM_000217.2(KCNA1):c.*2333G>A http://identifiers.org/clinvar/319139 ^@ NM_032444.2(SLX4):c.*168T>G http://identifiers.org/clinvar/319144 ^@ NM_032444.2(SLX4):c.5060C>G (p.Pro1687Arg) http://identifiers.org/clinvar/303310 ^@ NM_152722.4(HEPACAM):c.*411G>C http://identifiers.org/clinvar/319149 ^@ NM_032444.2(SLX4):c.4750C>T (p.Arg1584Cys) http://identifiers.org/clinvar/303315 ^@ NM_152722.4(HEPACAM):c.*207G>T http://identifiers.org/clinvar/309193 ^@ NM_000217.2(KCNA1):c.*2727C>T http://identifiers.org/clinvar/309198 ^@ NM_000217.2(KCNA1):c.*3185delG http://identifiers.org/clinvar/309203 ^@ NM_000217.2(KCNA1):c.*3503C>T http://identifiers.org/clinvar/309206 ^@ NM_000217.2(KCNA1):c.*3840G>A http://identifiers.org/clinvar/302639 ^@ NM_174934.3(SCN4B):c.*489T>C http://identifiers.org/clinvar/303321 ^@ NM_152722.4(HEPACAM):c.*112G>A http://identifiers.org/clinvar/302640 ^@ NM_174934.3(SCN4B):c.*471A>T http://identifiers.org/clinvar/303324 ^@ NM_152722.4(HEPACAM):c.*83G>A http://identifiers.org/clinvar/303326 ^@ NM_152722.4(HEPACAM):c.871C>T (p.Pro291Ser) http://identifiers.org/clinvar/309212 ^@ NM_000217.2(KCNA1):c.*4303A>T http://identifiers.org/clinvar/309213 ^@ NM_000217.2(KCNA1):c.*4439C>T http://identifiers.org/clinvar/309218 ^@ NM_000217.2(KCNA1):c.*4926G>A http://identifiers.org/clinvar/303330 ^@ NM_152722.4(HEPACAM):c.740C>T (p.Thr247Ile) http://identifiers.org/clinvar/303332 ^@ NM_152722.4(HEPACAM):c.472C>T (p.Leu158=) http://identifiers.org/clinvar/319155 ^@ NM_032444.2(SLX4):c.3913G>A (p.Ala1305Thr) http://identifiers.org/clinvar/302641 ^@ NM_174934.3(SCN4B):c.*449G>A http://identifiers.org/clinvar/319170 ^@ NM_032444.2(SLX4):c.1976C>T (p.Ser659Leu) http://identifiers.org/clinvar/303344 ^@ NM_145014.2(HYLS1):c.-516G>A http://identifiers.org/clinvar/319179 ^@ NM_032444.2(SLX4):c.1324A>C (p.Arg442=) http://identifiers.org/clinvar/303346 ^@ NM_145014.2(HYLS1):c.-487G>A http://identifiers.org/clinvar/303349 ^@ NM_145014.2(HYLS1):c.-159A>G http://identifiers.org/clinvar/302647 ^@ NM_174934.3(SCN4B):c.362T>C (p.Leu121Pro) http://identifiers.org/clinvar/302656 ^@ NM_000733.3(CD3E):c.-166G>A http://identifiers.org/clinvar/303353 ^@ NM_145014.2(HYLS1):c.-112T>C http://identifiers.org/clinvar/303355 ^@ NM_145014.2(HYLS1):c.-81+10_-81+11dupTG http://identifiers.org/clinvar/303359 ^@ NM_145014.2(HYLS1):c.-81+10_-81+11insTA http://identifiers.org/clinvar/303354 ^@ NM_145014.2(HYLS1):c.-81+10dupT http://identifiers.org/clinvar/319184 ^@ NM_032444.2(SLX4):c.742G>A (p.Glu248Lys) http://identifiers.org/clinvar/319188 ^@ NM_032444.2(SLX4):c.13G>A (p.Val5Met) http://identifiers.org/clinvar/302659 ^@ NM_000733.3(CD3E):c.54C>T (p.Gly18=) http://identifiers.org/clinvar/319192 ^@ NM_032444.2(SLX4):c.-104A>G http://identifiers.org/clinvar/309222 ^@ NM_000217.2(KCNA1):c.*5136A>G http://identifiers.org/clinvar/302664 ^@ NM_000733.3(CD3E):c.580G>A (p.Gly194Ser) http://identifiers.org/clinvar/303367 ^@ NM_145014.2(HYLS1):c.*107G>A http://identifiers.org/clinvar/302665 ^@ NM_000733.3(CD3E):c.*48C>A http://identifiers.org/clinvar/302668 ^@ NM_000733.3(CD3E):c.*535C>G http://identifiers.org/clinvar/302669 ^@ NM_000732.4(CD3D):c.*59C>T http://identifiers.org/clinvar/319194 ^@ NM_032444.2(SLX4):c.-143_-140delAACA http://identifiers.org/clinvar/302672 ^@ NM_000732.4(CD3D):c.121A>G (p.Ile41Val) http://identifiers.org/clinvar/302673 ^@ NM_000732.4(CD3D):c.-37G>T http://identifiers.org/clinvar/302677 ^@ NM_000732.4(CD3D):c.-128G>T http://identifiers.org/clinvar/309227 ^@ NM_000217.2(KCNA1):c.*5212C>T http://identifiers.org/clinvar/309114 ^@ NM_006009.3(TUBA1A):c.4-10C>T http://identifiers.org/clinvar/303375 ^@ NM_016952.4(CDON):c.*3972C>G http://identifiers.org/clinvar/303376 ^@ NM_016952.4(CDON):c.*3919T>C http://identifiers.org/clinvar/319196 ^@ NM_032444.2(SLX4):c.-210G>A http://identifiers.org/clinvar/302679 ^@ NM_000073.2(CD3G):c.-17G>T http://identifiers.org/clinvar/319205 ^@ NM_032444.2(SLX4):c.-602-6C>G http://identifiers.org/clinvar/319214 ^@ NM_032575.2(GLIS2):c.747C>T (p.Asn249=) http://identifiers.org/clinvar/319219 ^@ NM_032575.2(GLIS2):c.1335G>C (p.Glu445Asp) http://identifiers.org/clinvar/319226 ^@ NM_032575.2(GLIS2):c.1569G>A (p.Val523=) http://identifiers.org/clinvar/302683 ^@ NM_000073.2(CD3G):c.308-4A>G http://identifiers.org/clinvar/319235 ^@ NM_032575.2(GLIS2):c.*294_*296delTCC http://identifiers.org/clinvar/319240 ^@ NM_032575.2(GLIS2):c.*611G>A http://identifiers.org/clinvar/309115 ^@ NM_006009.3(TUBA1A):c.-57G>A http://identifiers.org/clinvar/303379 ^@ NM_016952.4(CDON):c.*3862G>T http://identifiers.org/clinvar/309121 ^@ NM_006009.3(TUBA1A):c.-103C>T http://identifiers.org/clinvar/319245 ^@ NM_032575.2(GLIS2):c.*796G>C http://identifiers.org/clinvar/309122 ^@ NM_006009.3(TUBA1A):c.-206A>G http://identifiers.org/clinvar/302685 ^@ NM_000073.2(CD3G):c.391G>T (p.Val131Phe) http://identifiers.org/clinvar/309230 ^@ NM_000486.5(AQP2):c.-75G>T http://identifiers.org/clinvar/319251 ^@ NM_032575.2(GLIS2):c.*1082G>A http://identifiers.org/clinvar/309233 ^@ NM_000486.5(AQP2):c.390G>C (p.Ala130=) http://identifiers.org/clinvar/302689 ^@ NM_000073.2(CD3G):c.*308G>A http://identifiers.org/clinvar/309236 ^@ NM_000486.5(AQP2):c.*57G>A http://identifiers.org/clinvar/303380 ^@ NM_016952.4(CDON):c.*3830G>A http://identifiers.org/clinvar/302692 ^@ NM_000073.2(CD3G):c.*451delG http://identifiers.org/clinvar/302695 ^@ NM_001164277.1(SLC37A4):c.*418T>C http://identifiers.org/clinvar/302696 ^@ NM_001164277.1(SLC37A4):c.*360C>G http://identifiers.org/clinvar/319257 ^@ NM_032575.2(GLIS2):c.*1465G>A http://identifiers.org/clinvar/319280 ^@ NM_018206.5(VPS35):c.*282_*283insAAAA http://identifiers.org/clinvar/303395 ^@ NM_016952.4(CDON):c.*3076T>A http://identifiers.org/clinvar/319278 ^@ NM_018206.5(VPS35):c.*283delC http://identifiers.org/clinvar/319283 ^@ NM_018206.5(VPS35):c.*277_*278insCA http://identifiers.org/clinvar/303405 ^@ NM_016952.4(CDON):c.*2640A>G http://identifiers.org/clinvar/319289 ^@ NM_018206.5(VPS35):c.2241C>T (p.Ile747=) http://identifiers.org/clinvar/303408 ^@ NM_016952.4(CDON):c.*2393_*2394dupTA http://identifiers.org/clinvar/319292 ^@ NM_018206.5(VPS35):c.1145A>G (p.Lys382Arg) http://identifiers.org/clinvar/303410 ^@ NM_016952.4(CDON):c.*2380_*2381insCA http://identifiers.org/clinvar/309239 ^@ NM_000486.5(AQP2):c.*232G>C http://identifiers.org/clinvar/303412 ^@ NM_016952.4(CDON):c.*2380_*2381insCACACA http://identifiers.org/clinvar/319297 ^@ NM_018206.5(VPS35):c.-19C>T http://identifiers.org/clinvar/302697 ^@ NM_001164277.1(SLC37A4):c.*298C>T http://identifiers.org/clinvar/319299 ^@ NM_018206.5(VPS35):c.-35C>T http://identifiers.org/clinvar/302707 ^@ NM_001164277.1(SLC37A4):c.465G>C (p.Leu155=) http://identifiers.org/clinvar/303413 ^@ NM_016952.4(CDON):c.*2380_*2381insCACACACACA http://identifiers.org/clinvar/309247 ^@ NM_000486.5(AQP2):c.*943A>C http://identifiers.org/clinvar/303430 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACACACACACACATATA http://identifiers.org/clinvar/319301 ^@ NM_014321.3(ORC6):c.96G>C (p.Arg32=) http://identifiers.org/clinvar/303423 ^@ NM_016952.4(CDON):c.*2377delTinsCACACACACACACAC http://identifiers.org/clinvar/309256 ^@ NM_000486.5(AQP2):c.*1599A>G http://identifiers.org/clinvar/309260 ^@ NM_000486.5(AQP2):c.*2048G>A http://identifiers.org/clinvar/319302 ^@ NM_014321.3(ORC6):c.413C>A (p.Pro138Gln) http://identifiers.org/clinvar/319303 ^@ NM_014321.3(ORC6):c.450-4G>A http://identifiers.org/clinvar/309271 ^@ NM_000486.5(AQP2):c.*3081C>T http://identifiers.org/clinvar/309329 ^@ NM_002234.3(KCNA5):c.-167C>T http://identifiers.org/clinvar/309336 ^@ NM_002234.3(KCNA5):c.381C>T (p.Ser127=) http://identifiers.org/clinvar/303436 ^@ NM_016952.4(CDON):c.*2369_*2376dupCACACACA http://identifiers.org/clinvar/303444 ^@ NM_016952.4(CDON):c.*2283_*2285delCTT http://identifiers.org/clinvar/302709 ^@ NM_001164277.1(SLC37A4):c.-42G>C http://identifiers.org/clinvar/303450 ^@ NM_016952.4(CDON):c.*1933A>G http://identifiers.org/clinvar/319304 ^@ NM_014321.3(ORC6):c.556G>T (p.Val186Phe) http://identifiers.org/clinvar/309339 ^@ NM_002234.3(KCNA5):c.1329C>T (p.Ile443=) http://identifiers.org/clinvar/319305 ^@ NM_014321.3(ORC6):c.*115T>G http://identifiers.org/clinvar/302711 ^@ NM_001164277.1(SLC37A4):c.-64C>T http://identifiers.org/clinvar/319306 ^@ NM_014321.3(ORC6):c.*217C>T http://identifiers.org/clinvar/319308 ^@ NM_014321.3(ORC6):c.*307A>G http://identifiers.org/clinvar/303453 ^@ NM_016952.4(CDON):c.*1800A>G http://identifiers.org/clinvar/319314 ^@ NM_014321.3(ORC6):c.*582A>C http://identifiers.org/clinvar/309276 ^@ NM_000617.2(SLC11A2):c.*2320delA http://identifiers.org/clinvar/309279 ^@ NM_000617.2(SLC11A2):c.*1949A>G http://identifiers.org/clinvar/309285 ^@ NM_000617.2(SLC11A2):c.*1486G>T http://identifiers.org/clinvar/319313 ^@ NM_014321.3(ORC6):c.*594_*597delAGAT http://identifiers.org/clinvar/319312 ^@ NM_014321.3(ORC6):c.*594_*597dupAGAT http://identifiers.org/clinvar/319323 ^@ NM_014321.3(ORC6):c.*621T>C http://identifiers.org/clinvar/309289 ^@ NM_000617.2(SLC11A2):c.*1215A>C http://identifiers.org/clinvar/309292 ^@ NM_000617.2(SLC11A2):c.*986C>A http://identifiers.org/clinvar/303454 ^@ NM_016952.4(CDON):c.*1745A>G http://identifiers.org/clinvar/303457 ^@ NM_016952.4(CDON):c.*1589G>A http://identifiers.org/clinvar/309294 ^@ NM_000617.2(SLC11A2):c.*970A>G http://identifiers.org/clinvar/302718 ^@ NM_001164277.1(SLC37A4):c.-420G>C http://identifiers.org/clinvar/303458 ^@ NM_016952.4(CDON):c.*1572A>G http://identifiers.org/clinvar/309299 ^@ NM_000617.2(SLC11A2):c.*390G>A http://identifiers.org/clinvar/302719 ^@ NM_001164277.1(SLC37A4):c.-573C>G http://identifiers.org/clinvar/303460 ^@ NM_016952.4(CDON):c.*1508A>G http://identifiers.org/clinvar/303465 ^@ NM_016952.4(CDON):c.*1319_*1322delGTTT http://identifiers.org/clinvar/303470 ^@ NM_016952.4(CDON):c.*1151C>T http://identifiers.org/clinvar/302725 ^@ NM_000190.3(HMBS):c.105G>C (p.Thr35=) http://identifiers.org/clinvar/302728 ^@ NM_000190.3(HMBS):c.303C>T (p.Pro101=) http://identifiers.org/clinvar/309301 ^@ NM_000617.2(SLC11A2):c.*153A>G http://identifiers.org/clinvar/309303 ^@ NM_000617.2(SLC11A2):c.*11G>A http://identifiers.org/clinvar/309306 ^@ NM_000617.2(SLC11A2):c.1584A>G (p.Gln528=) http://identifiers.org/clinvar/303471 ^@ NM_016952.4(CDON):c.*1061T>C http://identifiers.org/clinvar/303472 ^@ NM_016952.4(CDON):c.*1016C>T http://identifiers.org/clinvar/302730 ^@ NM_000190.3(HMBS):c.612+4G>A http://identifiers.org/clinvar/303478 ^@ NM_016952.4(CDON):c.*864G>A http://identifiers.org/clinvar/319319 ^@ NM_014321.3(ORC6):c.*623_*630dupGATAGATA http://identifiers.org/clinvar/303482 ^@ NM_016952.4(CDON):c.*601T>A http://identifiers.org/clinvar/319326 ^@ NM_014321.3(ORC6):c.*807G>A http://identifiers.org/clinvar/302731 ^@ NM_000190.3(HMBS):c.615C>G (p.Ile205Met) http://identifiers.org/clinvar/302732 ^@ NM_000190.3(HMBS):c.717C>T (p.His239=) http://identifiers.org/clinvar/309314 ^@ NM_000617.2(SLC11A2):c.932A>G (p.Asn311Ser) http://identifiers.org/clinvar/319328 ^@ NM_000293.2(PHKB):c.204C>T (p.Thr68=) http://identifiers.org/clinvar/302734 ^@ NM_000190.3(HMBS):c.1020C>T (p.Asn340=) http://identifiers.org/clinvar/319331 ^@ NM_000293.2(PHKB):c.370G>C (p.Gly124Arg) http://identifiers.org/clinvar/319332 ^@ NM_000293.2(PHKB):c.391C>T (p.Arg131Cys) http://identifiers.org/clinvar/319334 ^@ NM_000293.2(PHKB):c.430C>T (p.Arg144Cys) http://identifiers.org/clinvar/302736 ^@ NM_000190.3(HMBS):c.*94T>C http://identifiers.org/clinvar/302737 ^@ NM_000190.3(HMBS):c.*101G>A http://identifiers.org/clinvar/302741 ^@ NM_001382.3(DPAGT1):c.*417T>C http://identifiers.org/clinvar/303483 ^@ NM_016952.4(CDON):c.*589C>T http://identifiers.org/clinvar/303485 ^@ NM_016952.4(CDON):c.*278T>C http://identifiers.org/clinvar/309319 ^@ NM_000617.2(SLC11A2):c.514A>G (p.Ile172Val) http://identifiers.org/clinvar/309320 ^@ NM_000617.2(SLC11A2):c.504A>G (p.Ser168=) http://identifiers.org/clinvar/309321 ^@ NM_000617.2(SLC11A2):c.436C>G (p.Arg146Gly) http://identifiers.org/clinvar/303490 ^@ NM_016952.4(CDON):c.3603C>A (p.Gly1201=) http://identifiers.org/clinvar/303492 ^@ NM_016952.4(CDON):c.3312C>T (p.Asp1104=) http://identifiers.org/clinvar/302754 ^@ NM_001382.3(DPAGT1):c.-152C>T http://identifiers.org/clinvar/302766 ^@ NM_005188.3(CBL):c.-125_-116delCGGCGGCGGCinsT http://identifiers.org/clinvar/302770 ^@ NM_005188.3(CBL):c.-113C>T http://identifiers.org/clinvar/309322 ^@ NM_000617.2(SLC11A2):c.197G>A (p.Ser66Asn) http://identifiers.org/clinvar/302776 ^@ NM_005188.3(CBL):c.625C>G (p.Leu209Val) http://identifiers.org/clinvar/319338 ^@ NM_000293.2(PHKB):c.703C>T (p.His235Tyr) http://identifiers.org/clinvar/302777 ^@ NM_005188.3(CBL):c.852C>T (p.Phe284=) http://identifiers.org/clinvar/319340 ^@ NM_000293.2(PHKB):c.716T>C (p.Val239Ala) http://identifiers.org/clinvar/319347 ^@ NM_000293.2(PHKB):c.1378A>T (p.Ser460Cys) http://identifiers.org/clinvar/303495 ^@ NM_016952.4(CDON):c.3061A>G (p.Thr1021Ala) http://identifiers.org/clinvar/303497 ^@ NM_016952.4(CDON):c.2462G>A (p.Arg821His) http://identifiers.org/clinvar/319349 ^@ NM_000293.2(PHKB):c.1760T>C (p.Met587Thr) http://identifiers.org/clinvar/319350 ^@ NM_000293.2(PHKB):c.1797+8C>T http://identifiers.org/clinvar/309323 ^@ NM_000617.2(SLC11A2):c.34+11G>A http://identifiers.org/clinvar/309324 ^@ NM_000617.2(SLC11A2):c.-38-3C>T http://identifiers.org/clinvar/309346 ^@ NM_014191.3(SCN8A):c.-102G>C http://identifiers.org/clinvar/303503 ^@ NM_016952.4(CDON):c.2159-14G>A http://identifiers.org/clinvar/319351 ^@ NM_000293.2(PHKB):c.1797+9G>A http://identifiers.org/clinvar/319356 ^@ NM_000293.2(PHKB):c.2433T>G (p.Thr811=) http://identifiers.org/clinvar/319357 ^@ NM_000293.2(PHKB):c.2459A>T (p.Glu820Val) http://identifiers.org/clinvar/303506 ^@ NM_016952.4(CDON):c.1977C>T (p.Ser659=) http://identifiers.org/clinvar/303520 ^@ NM_016952.4(CDON):c.1253A>T (p.Asp418Val) http://identifiers.org/clinvar/309349 ^@ NM_014191.3(SCN8A):c.340A>G (p.Ile114Val) http://identifiers.org/clinvar/319359 ^@ NM_000293.2(PHKB):c.2715T>G (p.Ser905Arg) http://identifiers.org/clinvar/309353 ^@ NM_014191.3(SCN8A):c.1977C>T (p.Ile659=) http://identifiers.org/clinvar/302780 ^@ NM_005188.3(CBL):c.1360A>G (p.Asn454Asp) http://identifiers.org/clinvar/319362 ^@ NM_000293.2(PHKB):c.3144+12_3144+13insT http://identifiers.org/clinvar/319364 ^@ NM_000293.2(PHKB):c.3144+32_3144+34dupTTT http://identifiers.org/clinvar/319377 ^@ NM_000293.2(PHKB):c.*740C>T http://identifiers.org/clinvar/303525 ^@ NM_016952.4(CDON):c.39T>C (p.Tyr13=) http://identifiers.org/clinvar/303526 ^@ NM_016952.4(CDON):c.-48G>A http://identifiers.org/clinvar/309360 ^@ NM_014191.3(SCN8A):c.3442G>A (p.Val1148Met) http://identifiers.org/clinvar/319390 ^@ NM_024589.2(ROGDI):c.*451C>G http://identifiers.org/clinvar/309364 ^@ NM_014191.3(SCN8A):c.4134G>T (p.Lys1378Asn) http://identifiers.org/clinvar/303528 ^@ NM_016952.4(CDON):c.-57C>T http://identifiers.org/clinvar/302782 ^@ NM_005188.3(CBL):c.1629A>G (p.Pro543=) http://identifiers.org/clinvar/319395 ^@ NM_024589.2(ROGDI):c.*270T>C http://identifiers.org/clinvar/302783 ^@ NM_005188.3(CBL):c.1776C>T (p.Pro592=) http://identifiers.org/clinvar/319396 ^@ NM_024589.2(ROGDI):c.*144G>A http://identifiers.org/clinvar/302785 ^@ NM_005188.3(CBL):c.2052A>C (p.Pro684=) http://identifiers.org/clinvar/302788 ^@ NM_005188.3(CBL):c.2569C>T (p.Leu857Phe) http://identifiers.org/clinvar/302795 ^@ NM_005188.3(CBL):c.*567G>A http://identifiers.org/clinvar/309367 ^@ NM_014191.3(SCN8A):c.*128C>T http://identifiers.org/clinvar/303534 ^@ NM_017547.3(FOXRED1):c.192G>A (p.Ser64=) http://identifiers.org/clinvar/309368 ^@ NM_014191.3(SCN8A):c.*243T>A http://identifiers.org/clinvar/309371 ^@ NM_014191.3(SCN8A):c.*395C>T http://identifiers.org/clinvar/309374 ^@ NM_014191.3(SCN8A):c.*460C>T http://identifiers.org/clinvar/319399 ^@ NM_024589.2(ROGDI):c.713G>A (p.Arg238His) http://identifiers.org/clinvar/302796 ^@ NM_005188.3(CBL):c.*615C>T http://identifiers.org/clinvar/319402 ^@ NM_024589.2(ROGDI):c.567G>A (p.Leu189=) http://identifiers.org/clinvar/319404 ^@ NM_024589.2(ROGDI):c.522C>T (p.Ser174=) http://identifiers.org/clinvar/303536 ^@ NM_017547.3(FOXRED1):c.580C>T (p.Arg194Trp) http://identifiers.org/clinvar/319419 ^@ NM_022162.2(NOD2):c.-59G>A http://identifiers.org/clinvar/303544 ^@ NM_017547.3(FOXRED1):c.1138C>G (p.His380Asp) http://identifiers.org/clinvar/303545 ^@ NM_017547.3(FOXRED1):c.1183G>T (p.Val395Phe) http://identifiers.org/clinvar/319427 ^@ NM_022162.2(NOD2):c.484G>A (p.Val162Ile) http://identifiers.org/clinvar/303550 ^@ NM_017547.3(FOXRED1):c.*190T>C http://identifiers.org/clinvar/303553 ^@ NM_000220.4(KCNJ1):c.*1045C>G http://identifiers.org/clinvar/303562 ^@ NM_000220.4(KCNJ1):c.*452G>A http://identifiers.org/clinvar/303563 ^@ NM_000220.4(KCNJ1):c.*382G>A http://identifiers.org/clinvar/303566 ^@ NM_000220.4(KCNJ1):c.*88G>A http://identifiers.org/clinvar/309380 ^@ NM_014191.3(SCN8A):c.*791A>G http://identifiers.org/clinvar/319432 ^@ NM_022162.2(NOD2):c.633C>T (p.Ala211=) http://identifiers.org/clinvar/319436 ^@ NM_022162.2(NOD2):c.807G>A (p.Pro269=) http://identifiers.org/clinvar/303579 ^@ NM_000220.4(KCNJ1):c.-44T>A http://identifiers.org/clinvar/319455 ^@ NM_022162.2(NOD2):c.1981G>C (p.Ala661Pro) http://identifiers.org/clinvar/302798 ^@ NM_005188.3(CBL):c.*932A>G http://identifiers.org/clinvar/319467 ^@ NM_022162.2(NOD2):c.2489G>A (p.Arg830Gln) http://identifiers.org/clinvar/303581 ^@ NM_000890.3(KCNJ5):c.-305_-291delCACACACACACACACinsGAGAG http://identifiers.org/clinvar/303591 ^@ NM_000890.3(KCNJ5):c.-299_-291delCACACACACinsGAGAG http://identifiers.org/clinvar/303592 ^@ NM_000890.3(KCNJ5):c.-297_-291delCACACACinsGAGAGAGAGAGAGAG http://identifiers.org/clinvar/303593 ^@ NM_000890.3(KCNJ5):c.-297_-291delCACACACinsGAGAGAGAGAGAGAGAG http://identifiers.org/clinvar/303604 ^@ NM_000890.3(KCNJ5):c.-293_-291delCACinsGAGAGAGAGAGAG http://identifiers.org/clinvar/302802 ^@ NM_005188.3(CBL):c.*1158A>G http://identifiers.org/clinvar/309393 ^@ NM_014191.3(SCN8A):c.*1881A>T http://identifiers.org/clinvar/319478 ^@ NM_022162.2(NOD2):c.*325G>A http://identifiers.org/clinvar/319481 ^@ NM_022162.2(NOD2):c.*394C>T http://identifiers.org/clinvar/309396 ^@ NM_014191.3(SCN8A):c.*2303T>C http://identifiers.org/clinvar/319482 ^@ NM_022162.2(NOD2):c.*397A>C http://identifiers.org/clinvar/319484 ^@ NM_022162.2(NOD2):c.*462C>A http://identifiers.org/clinvar/319487 ^@ NM_022162.2(NOD2):c.*620G>A http://identifiers.org/clinvar/319495 ^@ NM_015247.2(CYLD):c.-161A>G http://identifiers.org/clinvar/303615 ^@ NM_000890.3(KCNJ5):c.-293_-290dupCACA http://identifiers.org/clinvar/303602 ^@ NM_000890.3(KCNJ5):c.-293_-288delCACAGA http://identifiers.org/clinvar/309400 ^@ NM_014191.3(SCN8A):c.*2497A>T http://identifiers.org/clinvar/302803 ^@ NM_005188.3(CBL):c.*1258G>A http://identifiers.org/clinvar/303609 ^@ NM_000890.3(KCNJ5):c.-292_-291insGAGAGA http://identifiers.org/clinvar/319496 ^@ NM_015247.2(CYLD):c.-23A>C http://identifiers.org/clinvar/319502 ^@ NM_015247.2(CYLD):c.1172T>C (p.Ile391Thr) http://identifiers.org/clinvar/303619 ^@ NM_000890.3(KCNJ5):c.-287G>C http://identifiers.org/clinvar/303620 ^@ NM_000890.3(KCNJ5):c.-284_-283insAAGAGA http://identifiers.org/clinvar/302805 ^@ NM_005188.3(CBL):c.*1487A>G http://identifiers.org/clinvar/319503 ^@ NM_015247.2(CYLD):c.1473C>T (p.Ile491=) http://identifiers.org/clinvar/302809 ^@ NM_005188.3(CBL):c.*1711T>C http://identifiers.org/clinvar/319504 ^@ NM_015247.2(CYLD):c.1503C>T (p.Leu501=) http://identifiers.org/clinvar/303622 ^@ NM_000890.3(KCNJ5):c.-261_-256dupGAGAGA http://identifiers.org/clinvar/303616 ^@ NM_000890.3(KCNJ5):c.-257_-256dupGA http://identifiers.org/clinvar/303629 ^@ NM_000890.3(KCNJ5):c.591G>A (p.Ala197=) http://identifiers.org/clinvar/319517 ^@ NM_015247.2(CYLD):c.*837A>G http://identifiers.org/clinvar/319519 ^@ NM_015247.2(CYLD):c.*1102G>A http://identifiers.org/clinvar/302812 ^@ NM_005188.3(CBL):c.*1856T>C http://identifiers.org/clinvar/319520 ^@ NM_015247.2(CYLD):c.*1245T>C http://identifiers.org/clinvar/309401 ^@ NM_014191.3(SCN8A):c.*2651C>T http://identifiers.org/clinvar/303630 ^@ NM_000890.3(KCNJ5):c.744G>A (p.Glu248=) http://identifiers.org/clinvar/302816 ^@ NM_005188.3(CBL):c.*1933C>T http://identifiers.org/clinvar/319521 ^@ NM_015247.2(CYLD):c.*1308A>G http://identifiers.org/clinvar/319523 ^@ NM_015247.2(CYLD):c.*1575G>A http://identifiers.org/clinvar/303632 ^@ NM_000890.3(KCNJ5):c.968T>C (p.Met323Thr) http://identifiers.org/clinvar/319526 ^@ NM_015247.2(CYLD):c.*1667G>T http://identifiers.org/clinvar/309402 ^@ NM_014191.3(SCN8A):c.*2662T>C http://identifiers.org/clinvar/302819 ^@ NM_005188.3(CBL):c.*2129dupA http://identifiers.org/clinvar/309404 ^@ NM_014191.3(SCN8A):c.*2826A>T http://identifiers.org/clinvar/319528 ^@ NM_015247.2(CYLD):c.*1746C>T http://identifiers.org/clinvar/319529 ^@ NM_015247.2(CYLD):c.*1810A>T http://identifiers.org/clinvar/309413 ^@ NM_014191.3(SCN8A):c.*3749G>T http://identifiers.org/clinvar/319540 ^@ NM_015247.2(CYLD):c.*2556A>G http://identifiers.org/clinvar/309414 ^@ NM_014191.3(SCN8A):c.*3802G>A http://identifiers.org/clinvar/309424 ^@ NM_014191.3(SCN8A):c.*4375G>A http://identifiers.org/clinvar/303640 ^@ NM_000890.3(KCNJ5):c.*378dupC http://identifiers.org/clinvar/309425 ^@ NM_014191.3(SCN8A):c.*4399T>G http://identifiers.org/clinvar/303649 ^@ NM_000890.3(KCNJ5):c.*804G>T http://identifiers.org/clinvar/309427 ^@ NM_014191.3(SCN8A):c.*4470T>C http://identifiers.org/clinvar/302820 ^@ NM_005188.3(CBL):c.*2137C>T http://identifiers.org/clinvar/302827 ^@ NM_005188.3(CBL):c.*2762dupA http://identifiers.org/clinvar/309433 ^@ NM_014191.3(SCN8A):c.*5189C>A http://identifiers.org/clinvar/309436 ^@ NM_000020.2(ACVRL1):c.-194A>C http://identifiers.org/clinvar/309439 ^@ NM_000020.2(ACVRL1):c.-52G>A http://identifiers.org/clinvar/319545 ^@ NM_015247.2(CYLD):c.*2975C>T http://identifiers.org/clinvar/303657 ^@ NM_000890.3(KCNJ5):c.*977T>C http://identifiers.org/clinvar/302829 ^@ NM_005188.3(CBL):c.*3096C>G http://identifiers.org/clinvar/302832 ^@ NM_005188.3(CBL):c.*3167G>A http://identifiers.org/clinvar/302834 ^@ NM_005188.3(CBL):c.*3272T>C http://identifiers.org/clinvar/319551 ^@ NM_015247.2(CYLD):c.*3305A>G http://identifiers.org/clinvar/302841 ^@ NM_005188.3(CBL):c.*4029C>T http://identifiers.org/clinvar/302842 ^@ NM_005188.3(CBL):c.*4031C>G http://identifiers.org/clinvar/302844 ^@ NM_005188.3(CBL):c.*4085C>G http://identifiers.org/clinvar/303659 ^@ NM_000890.3(KCNJ5):c.*1024A>G http://identifiers.org/clinvar/303663 ^@ NM_000890.3(KCNJ5):c.*1168C>G http://identifiers.org/clinvar/303670 ^@ NM_014384.2(ACAD8):c.99C>T (p.Ser33=) http://identifiers.org/clinvar/302855 ^@ NM_005188.3(CBL):c.*4849A>C http://identifiers.org/clinvar/303671 ^@ NM_014384.2(ACAD8):c.110-9T>C http://identifiers.org/clinvar/302856 ^@ NM_005188.3(CBL):c.*4868T>C http://identifiers.org/clinvar/319553 ^@ NM_015247.2(CYLD):c.*3469T>C http://identifiers.org/clinvar/319557 ^@ NM_015247.2(CYLD):c.*3731C>T http://identifiers.org/clinvar/302857 ^@ NM_005188.3(CBL):c.*4877G>A http://identifiers.org/clinvar/319559 ^@ NM_015247.2(CYLD):c.*3739C>G http://identifiers.org/clinvar/319563 ^@ NM_015247.2(CYLD):c.*4494G>A http://identifiers.org/clinvar/303675 ^@ NM_014384.2(ACAD8):c.381-4T>A http://identifiers.org/clinvar/303678 ^@ NM_014384.2(ACAD8):c.558T>C (p.Asn186=) http://identifiers.org/clinvar/303681 ^@ NM_014384.2(ACAD8):c.841+9C>T http://identifiers.org/clinvar/309440 ^@ NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) http://identifiers.org/clinvar/309443 ^@ NM_000020.2(ACVRL1):c.713C>T (p.Ser238Phe) http://identifiers.org/clinvar/309448 ^@ NM_000020.2(ACVRL1):c.*200A>G http://identifiers.org/clinvar/309455 ^@ NM_000020.2(ACVRL1):c.*856dupT http://identifiers.org/clinvar/309470 ^@ NM_000020.2(ACVRL1):c.*1560A>C http://identifiers.org/clinvar/303689 ^@ NM_014384.2(ACAD8):c.*277C>T http://identifiers.org/clinvar/319565 ^@ NM_015247.2(CYLD):c.*4567C>T http://identifiers.org/clinvar/319567 ^@ NM_015247.2(CYLD):c.*4702C>T http://identifiers.org/clinvar/302859 ^@ NM_005188.3(CBL):c.*4959C>T http://identifiers.org/clinvar/303693 ^@ NM_014384.2(ACAD8):c.*441C>G http://identifiers.org/clinvar/303696 ^@ NM_014384.2(ACAD8):c.*652C>G http://identifiers.org/clinvar/303701 ^@ NM_000315.3(PTH):c.*55C>T http://identifiers.org/clinvar/303703 ^@ NM_000315.3(PTH):c.276G>A (p.Glu92=) http://identifiers.org/clinvar/309471 ^@ NM_000020.2(ACVRL1):c.*1630C>T http://identifiers.org/clinvar/309492 ^@ NM_002282.3(KRT83):c.*44C>T http://identifiers.org/clinvar/309496 ^@ NM_002282.3(KRT83):c.1412G>A (p.Gly471Asp) http://identifiers.org/clinvar/303704 ^@ NM_000315.3(PTH):c.86+9T>G http://identifiers.org/clinvar/319568 ^@ NM_015247.2(CYLD):c.*4841G>A http://identifiers.org/clinvar/303711 ^@ NM_000525.3(KCNJ11):c.*937C>T http://identifiers.org/clinvar/303713 ^@ NM_000525.3(KCNJ11):c.*826_*827dupTC http://identifiers.org/clinvar/319574 ^@ NM_015247.2(CYLD):c.*5384A>G http://identifiers.org/clinvar/303714 ^@ NM_000525.3(KCNJ11):c.*732C>T http://identifiers.org/clinvar/302865 ^@ NM_005188.3(CBL):c.*5183C>T http://identifiers.org/clinvar/309498 ^@ NM_002282.3(KRT83):c.1338C>T (p.Cys446=) http://identifiers.org/clinvar/319593 ^@ NM_002968.2(SALL1):c.*88_*92delGCCCC http://identifiers.org/clinvar/319598 ^@ NM_002968.2(SALL1):c.3929G>A (p.Arg1310His) http://identifiers.org/clinvar/309499 ^@ NM_002282.3(KRT83):c.1332T>C (p.Asp444=) http://identifiers.org/clinvar/302866 ^@ NM_005188.3(CBL):c.*5632C>T http://identifiers.org/clinvar/319599 ^@ NM_002968.2(SALL1):c.3768G>A (p.Gln1256=) http://identifiers.org/clinvar/319601 ^@ NM_002968.2(SALL1):c.3711T>C (p.Tyr1237=) http://identifiers.org/clinvar/319602 ^@ NM_002968.2(SALL1):c.3424A>G (p.Thr1142Ala) http://identifiers.org/clinvar/303715 ^@ NM_000525.3(KCNJ11):c.*701A>T http://identifiers.org/clinvar/303720 ^@ NM_000525.3(KCNJ11):c.*529G>A http://identifiers.org/clinvar/303724 ^@ NM_000525.3(KCNJ11):c.*311C>T http://identifiers.org/clinvar/303740 ^@ NM_000525.3(KCNJ11):c.-154G>T http://identifiers.org/clinvar/303746 ^@ NM_000352.4(ABCC8):c.*93T>A http://identifiers.org/clinvar/309500 ^@ NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser) http://identifiers.org/clinvar/303755 ^@ NM_000352.4(ABCC8):c.3989-10C>T http://identifiers.org/clinvar/302874 ^@ NM_005188.3(CBL):c.*5885A>G http://identifiers.org/clinvar/319607 ^@ NM_002968.2(SALL1):c.2008T>C (p.Phe670Leu) http://identifiers.org/clinvar/303760 ^@ NM_000352.4(ABCC8):c.3558-6C>G http://identifiers.org/clinvar/303761 ^@ NM_000352.4(ABCC8):c.3558-8C>T http://identifiers.org/clinvar/303763 ^@ NM_000352.4(ABCC8):c.3435C>T (p.Ser1145=) http://identifiers.org/clinvar/303766 ^@ NM_000352.4(ABCC8):c.3112G>A (p.Asp1038Asn) http://identifiers.org/clinvar/303770 ^@ NM_000352.4(ABCC8):c.2694+15G>A http://identifiers.org/clinvar/302880 ^@ NM_005188.3(CBL):c.*6099A>G http://identifiers.org/clinvar/319617 ^@ NM_002968.2(SALL1):c.351C>T (p.Asn117=) http://identifiers.org/clinvar/319623 ^@ NM_015272.4(RPGRIP1L):c.*1883C>G http://identifiers.org/clinvar/319627 ^@ NM_015272.4(RPGRIP1L):c.*1482G>A http://identifiers.org/clinvar/319632 ^@ NM_015272.4(RPGRIP1L):c.*901A>G http://identifiers.org/clinvar/303772 ^@ NM_000352.4(ABCC8):c.2500C>T (p.Arg834Cys) http://identifiers.org/clinvar/303780 ^@ NM_000352.4(ABCC8):c.1920G>A (p.Ala640=) http://identifiers.org/clinvar/303781 ^@ NM_000352.4(ABCC8):c.1613T>C (p.Ile538Thr) http://identifiers.org/clinvar/309504 ^@ NM_002282.3(KRT83):c.1056A>G (p.Glu352=) http://identifiers.org/clinvar/319646 ^@ NM_015272.4(RPGRIP1L):c.3882A>G (p.Val1294=) http://identifiers.org/clinvar/319648 ^@ NM_015272.4(RPGRIP1L):c.3617-13dupT http://identifiers.org/clinvar/319656 ^@ NM_015272.4(RPGRIP1L):c.2565C>T (p.Tyr855=) http://identifiers.org/clinvar/319658 ^@ NM_015272.4(RPGRIP1L):c.2414G>A (p.Arg805Gln) http://identifiers.org/clinvar/303789 ^@ NM_000352.4(ABCC8):c.105G>A (p.Pro35=) http://identifiers.org/clinvar/303790 ^@ NM_000352.4(ABCC8):c.-49G>C http://identifiers.org/clinvar/303793 ^@ NM_005709.3(USH1C):c.*451_*452insAACA http://identifiers.org/clinvar/319663 ^@ NM_015272.4(RPGRIP1L):c.1331G>A (p.Arg444His) http://identifiers.org/clinvar/319669 ^@ NM_015272.4(RPGRIP1L):c.217G>C (p.Asp73His) http://identifiers.org/clinvar/302881 ^@ NM_005188.3(CBL):c.*6126T>A http://identifiers.org/clinvar/302884 ^@ NM_005188.3(CBL):c.*6362G>A http://identifiers.org/clinvar/319672 ^@ NM_015272.4(RPGRIP1L):c.-9C>T http://identifiers.org/clinvar/309508 ^@ NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys) http://identifiers.org/clinvar/302887 ^@ NM_005188.3(CBL):c.*6575G>C http://identifiers.org/clinvar/309520 ^@ NM_002282.3(KRT83):c.760A>G (p.Ile254Val) http://identifiers.org/clinvar/319675 ^@ NM_001080432.2(FTO):c.-137G>C http://identifiers.org/clinvar/319676 ^@ NM_001080432.2(FTO):c.-4delC http://identifiers.org/clinvar/309524 ^@ NM_002282.3(KRT83):c.667G>A (p.Ala223Thr) http://identifiers.org/clinvar/309526 ^@ NM_002282.3(KRT83):c.666C>A (p.Cys222Ter) http://identifiers.org/clinvar/309527 ^@ NM_002282.3(KRT83):c.633C>T (p.Asn211=) http://identifiers.org/clinvar/303794 ^@ NM_005709.3(USH1C):c.*437C>G http://identifiers.org/clinvar/303795 ^@ NM_005709.3(USH1C):c.*408A>C http://identifiers.org/clinvar/302892 ^@ NM_005188.3(CBL):c.*6933C>A http://identifiers.org/clinvar/319679 ^@ NM_001080432.2(FTO):c.99C>T (p.Pro33=) http://identifiers.org/clinvar/319680 ^@ NM_001080432.2(FTO):c.174T>C (p.Ser58=) http://identifiers.org/clinvar/309530 ^@ NM_002282.3(KRT83):c.593+15G>A http://identifiers.org/clinvar/309531 ^@ NM_002282.3(KRT83):c.514G>A (p.Glu172Lys) http://identifiers.org/clinvar/309539 ^@ NM_002282.3(KRT83):c.312G>A (p.Ala104=) http://identifiers.org/clinvar/303796 ^@ NM_005709.3(USH1C):c.*243A>G http://identifiers.org/clinvar/319681 ^@ NM_001080432.2(FTO):c.400G>A (p.Ala134Thr) http://identifiers.org/clinvar/303799 ^@ NM_005709.3(USH1C):c.*127C>T http://identifiers.org/clinvar/309540 ^@ NM_002282.3(KRT83):c.310G>A (p.Ala104Thr) http://identifiers.org/clinvar/319686 ^@ NM_001080432.2(FTO):c.1119+12_1119+15delCTTT http://identifiers.org/clinvar/303801 ^@ NM_005709.3(USH1C):c.1478A>G (p.His493Arg) http://identifiers.org/clinvar/309541 ^@ NM_002282.3(KRT83):c.184G>A (p.Gly62Ser) http://identifiers.org/clinvar/309543 ^@ NM_002282.3(KRT83):c.173G>C (p.Gly58Ala) http://identifiers.org/clinvar/309549 ^@ NM_000424.3(KRT5):c.*263T>C http://identifiers.org/clinvar/303802 ^@ NM_005709.3(USH1C):c.1380+15G>A http://identifiers.org/clinvar/319695 ^@ NM_001080432.2(FTO):c.*301G>A http://identifiers.org/clinvar/319698 ^@ NM_001080432.2(FTO):c.*509G>A http://identifiers.org/clinvar/303804 ^@ NM_005709.3(USH1C):c.1220G>A (p.Gly407Glu) http://identifiers.org/clinvar/302897 ^@ NM_005188.3(CBL):c.*7170_*7173delAAAA http://identifiers.org/clinvar/309552 ^@ NM_000424.3(KRT5):c.*134A>G http://identifiers.org/clinvar/309559 ^@ NM_000424.3(KRT5):c.1475-6C>T http://identifiers.org/clinvar/302903 ^@ NM_005188.3(CBL):c.*7580_*7581delTC http://identifiers.org/clinvar/303808 ^@ NM_005709.3(USH1C):c.845G>A (p.Arg282His) http://identifiers.org/clinvar/302906 ^@ NM_005188.3(CBL):c.*7689C>G http://identifiers.org/clinvar/319699 ^@ NM_001080432.2(FTO):c.*619A>C http://identifiers.org/clinvar/302907 ^@ NM_005188.3(CBL):c.*7761G>A http://identifiers.org/clinvar/319702 ^@ NM_001080432.2(FTO):c.*931C>A http://identifiers.org/clinvar/302915 ^@ NM_005188.3(CBL):c.*8058C>T http://identifiers.org/clinvar/302918 ^@ NM_005188.3(CBL):c.*8292_*8295delGTTA http://identifiers.org/clinvar/309579 ^@ NM_000424.3(KRT5):c.-81C>T http://identifiers.org/clinvar/303810 ^@ NM_005709.3(USH1C):c.789C>G (p.Gly263=) http://identifiers.org/clinvar/319705 ^@ NM_001080432.2(FTO):c.*1071G>C http://identifiers.org/clinvar/309582 ^@ NM_000423.2(KRT2):c.*447C>T http://identifiers.org/clinvar/309601 ^@ NM_000423.2(KRT2):c.1478G>T (p.Gly493Val) http://identifiers.org/clinvar/309603 ^@ NM_000423.2(KRT2):c.1355C>G (p.Ala452Gly) http://identifiers.org/clinvar/309607 ^@ NM_000423.2(KRT2):c.1249-7G>T http://identifiers.org/clinvar/302920 ^@ NG_012235.1:g.12594C>T http://identifiers.org/clinvar/302922 ^@ NG_012235.1:g.12405A>T http://identifiers.org/clinvar/319708 ^@ NM_001080432.2(FTO):c.*1315C>T http://identifiers.org/clinvar/302926 ^@ NG_012235.1:g.12026G>A http://identifiers.org/clinvar/303813 ^@ NM_005709.3(USH1C):c.496C>T (p.His166Tyr) http://identifiers.org/clinvar/319710 ^@ NM_001080432.2(FTO):c.*1379delC http://identifiers.org/clinvar/309610 ^@ NM_000423.2(KRT2):c.1051G>A (p.Glu351Lys) http://identifiers.org/clinvar/319714 ^@ NM_001080432.2(FTO):c.*1592G>A http://identifiers.org/clinvar/319716 ^@ NM_001080432.2(FTO):c.*1724A>G http://identifiers.org/clinvar/302929 ^@ NM_031433.3(MFRP):c.*1140C>A http://identifiers.org/clinvar/303819 ^@ NM_001909.4(CTSD):c.*736C>G http://identifiers.org/clinvar/309613 ^@ NM_000423.2(KRT2):c.861+6C>G http://identifiers.org/clinvar/309615 ^@ NM_000423.2(KRT2):c.767A>G (p.Asn256Ser) http://identifiers.org/clinvar/303826 ^@ NM_001909.4(CTSD):c.*356C>G http://identifiers.org/clinvar/302930 ^@ NG_012235.1:g.11499G>A http://identifiers.org/clinvar/302933 ^@ NG_012235.1:g.11275C>T http://identifiers.org/clinvar/319718 ^@ NM_001080432.2(FTO):c.*1767delG http://identifiers.org/clinvar/309620 ^@ NM_000423.2(KRT2):c.348C>T (p.Gly116=) http://identifiers.org/clinvar/319719 ^@ NM_001080432.2(FTO):c.*1829G>A http://identifiers.org/clinvar/319721 ^@ NM_001080432.2(FTO):c.*1896delC http://identifiers.org/clinvar/319722 ^@ NM_001080432.2(FTO):c.*1911dupT http://identifiers.org/clinvar/303828 ^@ NM_001909.4(CTSD):c.*300G>A http://identifiers.org/clinvar/319731 ^@ NM_001080432.2(FTO):c.*2249A>T http://identifiers.org/clinvar/319733 ^@ NM_001080432.2(FTO):c.*2333C>T http://identifiers.org/clinvar/319735 ^@ NM_001080432.2(FTO):c.*2362G>T http://identifiers.org/clinvar/303830 ^@ NM_001909.4(CTSD):c.*117C>T http://identifiers.org/clinvar/303834 ^@ NM_001909.4(CTSD):c.1084G>A (p.Gly362Arg) http://identifiers.org/clinvar/309623 ^@ NM_000423.2(KRT2):c.301A>G (p.Ser101Gly) http://identifiers.org/clinvar/319746 ^@ NM_004530.5(MMP2):c.51C>T (p.Leu17=) http://identifiers.org/clinvar/302940 ^@ NG_012235.1:g.10778G>A http://identifiers.org/clinvar/319747 ^@ NM_004530.5(MMP2):c.588C>T (p.Ala196=) http://identifiers.org/clinvar/319748 ^@ NM_004530.5(MMP2):c.658+10G>A http://identifiers.org/clinvar/302943 ^@ NG_012235.1:g.10361G>A http://identifiers.org/clinvar/309625 ^@ NM_000423.2(KRT2):c.168C>T (p.Gly56=) http://identifiers.org/clinvar/303817 ^@ NM_005709.3(USH1C):c.-60T>C http://identifiers.org/clinvar/303841 ^@ NM_001909.4(CTSD):c.90G>A (p.Thr30=) http://identifiers.org/clinvar/303842 ^@ NM_001909.4(CTSD):c.-3G>T http://identifiers.org/clinvar/309639 ^@ NM_006121.3(KRT1):c.1669A>G (p.Ser557Gly) http://identifiers.org/clinvar/319754 ^@ NM_004530.5(MMP2):c.1098C>T (p.Ala366=) http://identifiers.org/clinvar/309640 ^@ NM_006121.3(KRT1):c.1527C>T (p.His509=) http://identifiers.org/clinvar/302946 ^@ NG_012235.1:g.10252G>C http://identifiers.org/clinvar/303844 ^@ NM_001909.4(CTSD):c.-47A>G http://identifiers.org/clinvar/303845 ^@ NM_001909.4(CTSD):c.-53C>T http://identifiers.org/clinvar/303852 ^@ NM_181507.1(HPS5):c.*812A>C http://identifiers.org/clinvar/319760 ^@ NM_004530.5(MMP2):c.1340C>T (p.Ala447Val) http://identifiers.org/clinvar/319762 ^@ NM_004530.5(MMP2):c.1567G>T (p.Val523Leu) http://identifiers.org/clinvar/319766 ^@ NM_004530.5(MMP2):c.1770-4A>G http://identifiers.org/clinvar/319767 ^@ NM_004530.5(MMP2):c.1779G>A (p.Glu593=) http://identifiers.org/clinvar/302952 ^@ NG_012235.1:g.9777T>A http://identifiers.org/clinvar/302957 ^@ NG_012235.1:g.7369G>A http://identifiers.org/clinvar/303872 ^@ NM_181507.1(HPS5):c.2837+15delC http://identifiers.org/clinvar/319772 ^@ NM_004530.5(MMP2):c.*159T>C http://identifiers.org/clinvar/309644 ^@ NM_006121.3(KRT1):c.1107C>T (p.Ala369=) http://identifiers.org/clinvar/319773 ^@ NM_004530.5(MMP2):c.*170G>A http://identifiers.org/clinvar/319775 ^@ NM_004530.5(MMP2):c.*228C>T http://identifiers.org/clinvar/309651 ^@ NM_006121.3(KRT1):c.592-8G>A http://identifiers.org/clinvar/309658 ^@ NM_002272.3(KRT4):c.*405G>A http://identifiers.org/clinvar/302968 ^@ NG_012235.1:g.6196G>A http://identifiers.org/clinvar/302969 ^@ NG_012235.1:g.6118C>T http://identifiers.org/clinvar/309662 ^@ NM_002272.3(KRT4):c.*126C>A http://identifiers.org/clinvar/319777 ^@ NM_004530.5(MMP2):c.*400G>A http://identifiers.org/clinvar/309663 ^@ NM_002272.3(KRT4):c.*81T>A http://identifiers.org/clinvar/319780 ^@ NM_004530.5(MMP2):c.*551dupT http://identifiers.org/clinvar/302978 ^@ NG_012235.1:g.5548G>A http://identifiers.org/clinvar/302979 ^@ NG_012235.1:g.5547C>T http://identifiers.org/clinvar/302980 ^@ NM_015645.4(C1QTNF5):c.-2574C>A http://identifiers.org/clinvar/303874 ^@ NM_181507.1(HPS5):c.2537C>T (p.Pro846Leu) http://identifiers.org/clinvar/303876 ^@ NM_181507.1(HPS5):c.2461G>T (p.Val821Leu) http://identifiers.org/clinvar/303879 ^@ NM_181507.1(HPS5):c.2224_2226delACA (p.Thr742del) http://identifiers.org/clinvar/302981 ^@ NG_012235.1:g.5303G>A http://identifiers.org/clinvar/303881 ^@ NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) http://identifiers.org/clinvar/303882 ^@ NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) http://identifiers.org/clinvar/319787 ^@ NM_004530.5(MMP2):c.*1204A>T http://identifiers.org/clinvar/303890 ^@ NM_181507.1(HPS5):c.1479A>G (p.Pro493=) http://identifiers.org/clinvar/309666 ^@ NM_002272.3(KRT4):c.1512C>A (p.Gly504=) http://identifiers.org/clinvar/302982 ^@ NG_012235.1:g.5130G>A http://identifiers.org/clinvar/319789 ^@ NM_001043.3(SLC6A2):c.-182C>T http://identifiers.org/clinvar/302984 ^@ NG_012235.1:g.5112G>A http://identifiers.org/clinvar/302995 ^@ NM_005422.2(TECTA):c.1002C>T (p.Asp334=) http://identifiers.org/clinvar/303891 ^@ NM_181507.1(HPS5):c.1475T>A (p.Leu492Gln) http://identifiers.org/clinvar/319791 ^@ NM_001043.3(SLC6A2):c.21C>A (p.Asn7Lys) http://identifiers.org/clinvar/303899 ^@ NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) http://identifiers.org/clinvar/303907 ^@ NM_181507.1(HPS5):c.-263A>G http://identifiers.org/clinvar/309667 ^@ NM_002272.3(KRT4):c.1495G>C (p.Gly499Arg) http://identifiers.org/clinvar/319792 ^@ NM_001043.3(SLC6A2):c.48G>C (p.Gly16=) http://identifiers.org/clinvar/319793 ^@ NM_001043.3(SLC6A2):c.52G>C (p.Asp18His) http://identifiers.org/clinvar/319794 ^@ NM_001043.3(SLC6A2):c.275-15C>T http://identifiers.org/clinvar/309668 ^@ NM_002272.3(KRT4):c.1493T>C (p.Phe498Ser) http://identifiers.org/clinvar/309670 ^@ NM_002272.3(KRT4):c.1381+15C>T http://identifiers.org/clinvar/319799 ^@ NM_001043.3(SLC6A2):c.866A>G (p.Asn289Ser) http://identifiers.org/clinvar/309671 ^@ NM_002272.3(KRT4):c.1346+15A>G http://identifiers.org/clinvar/309672 ^@ NM_002272.3(KRT4):c.1259G>A (p.Arg420His) http://identifiers.org/clinvar/319800 ^@ NM_001043.3(SLC6A2):c.918+11A>G http://identifiers.org/clinvar/319806 ^@ NM_001043.3(SLC6A2):c.1401C>T (p.Tyr467=) http://identifiers.org/clinvar/319807 ^@ NM_001043.3(SLC6A2):c.1465G>A (p.Ala489Thr) http://identifiers.org/clinvar/303934 ^@ NM_003282.3(TNNI2):c.-50G>A http://identifiers.org/clinvar/303912 ^@ NM_005566.3(LDHA):c.348C>A (p.Ile116=) http://identifiers.org/clinvar/303913 ^@ NM_005566.3(LDHA):c.387G>A (p.Pro129=) http://identifiers.org/clinvar/302999 ^@ NM_005422.2(TECTA):c.1420C>T (p.Arg474Cys) http://identifiers.org/clinvar/303001 ^@ NM_005422.2(TECTA):c.1694G>A (p.Cys565Tyr) http://identifiers.org/clinvar/309676 ^@ NM_002272.3(KRT4):c.1080G>A (p.Arg360=) http://identifiers.org/clinvar/319818 ^@ NM_001043.3(SLC6A2):c.*371G>A http://identifiers.org/clinvar/309681 ^@ NM_002272.3(KRT4):c.835-4G>T http://identifiers.org/clinvar/319819 ^@ NM_001043.3(SLC6A2):c.*396_*397dupCC http://identifiers.org/clinvar/319824 ^@ NM_001043.3(SLC6A2):c.*414_*415insC http://identifiers.org/clinvar/309690 ^@ NM_002272.3(KRT4):c.558C>G (p.Pro186=) http://identifiers.org/clinvar/319825 ^@ NM_001043.3(SLC6A2):c.*416delC http://identifiers.org/clinvar/319827 ^@ NM_001043.3(SLC6A2):c.*417T>A http://identifiers.org/clinvar/303004 ^@ NM_005422.2(TECTA):c.2071G>A (p.Gly691Ser) http://identifiers.org/clinvar/303915 ^@ NM_005566.3(LDHA):c.519A>G (p.Leu173=) http://identifiers.org/clinvar/309693 ^@ NM_002272.3(KRT4):c.513G>A (p.Leu171=) http://identifiers.org/clinvar/319828 ^@ NM_001043.3(SLC6A2):c.*606T>C http://identifiers.org/clinvar/319834 ^@ NM_001043.3(SLC6A2):c.*919_*921delACC http://identifiers.org/clinvar/303008 ^@ NM_005422.2(TECTA):c.2586C>G (p.Leu862=) http://identifiers.org/clinvar/303011 ^@ NM_005422.2(TECTA):c.2876G>A (p.Arg959Gln) http://identifiers.org/clinvar/303015 ^@ NM_005422.2(TECTA):c.3511G>A (p.Val1171Met) http://identifiers.org/clinvar/319838 ^@ NM_001043.3(SLC6A2):c.*1017G>A http://identifiers.org/clinvar/309694 ^@ NM_002272.3(KRT4):c.475G>A (p.Glu159Lys) http://identifiers.org/clinvar/303017 ^@ NM_005422.2(TECTA):c.3558G>T (p.Arg1186=) http://identifiers.org/clinvar/319840 ^@ NM_001043.3(SLC6A2):c.*1175A>G http://identifiers.org/clinvar/309696 ^@ NM_002272.3(KRT4):c.466C>T (p.Gln156Ter) http://identifiers.org/clinvar/309706 ^@ NM_002272.3(KRT4):c.267T>C (p.Phe89=) http://identifiers.org/clinvar/309709 ^@ NM_002272.3(KRT4):c.215C>T (p.Ala72Val) http://identifiers.org/clinvar/303019 ^@ NM_005422.2(TECTA):c.3750T>C (p.Asp1250=) http://identifiers.org/clinvar/319848 ^@ NM_031885.3(BBS2):c.2088T>C (p.Thr696=) http://identifiers.org/clinvar/319854 ^@ NM_031885.3(BBS2):c.1662C>G (p.Ile554Met) http://identifiers.org/clinvar/303937 ^@ NM_003282.3(TNNI2):c.159T>C (p.His53=) http://identifiers.org/clinvar/319857 ^@ NM_031885.3(BBS2):c.1207C>T (p.Arg403Cys) http://identifiers.org/clinvar/319862 ^@ NM_031885.3(BBS2):c.837C>T (p.Val279=) http://identifiers.org/clinvar/303919 ^@ NM_005566.3(LDHA):c.*243C>G http://identifiers.org/clinvar/319866 ^@ NM_031885.3(BBS2):c.534+7G>C http://identifiers.org/clinvar/319870 ^@ NM_031885.3(BBS2):c.86C>T (p.Pro29Leu) http://identifiers.org/clinvar/309711 ^@ NM_002272.3(KRT4):c.186C>T (p.Ser62=) http://identifiers.org/clinvar/319872 ^@ NM_031885.3(BBS2):c.58G>A (p.Ala20Thr) http://identifiers.org/clinvar/319874 ^@ NM_031885.3(BBS2):c.-67C>G http://identifiers.org/clinvar/309713 ^@ NM_002272.3(KRT4):c.54C>G (p.Gly18=) http://identifiers.org/clinvar/319878 ^@ NM_031885.3(BBS2):c.-147G>T http://identifiers.org/clinvar/319882 ^@ NM_031885.3(BBS2):c.-190G>C http://identifiers.org/clinvar/319884 ^@ NM_031885.3(BBS2):c.-199A>T http://identifiers.org/clinvar/309716 ^@ NM_002272.3(KRT4):c.-54A>T http://identifiers.org/clinvar/309723 ^@ NM_015665.5(AAAS):c.1498C>T (p.Arg500Trp) http://identifiers.org/clinvar/303920 ^@ NM_005566.3(LDHA):c.*253G>A http://identifiers.org/clinvar/319888 ^@ NM_000339.2(SLC12A3):c.81C>G (p.Ser27Arg) http://identifiers.org/clinvar/303921 ^@ NM_005566.3(LDHA):c.*311C>T http://identifiers.org/clinvar/303021 ^@ NM_005422.2(TECTA):c.3762G>A (p.Met1254Ile) http://identifiers.org/clinvar/303928 ^@ NM_005566.3(LDHA):c.*706G>A http://identifiers.org/clinvar/319889 ^@ NM_000339.2(SLC12A3):c.247C>T (p.Arg83Trp) http://identifiers.org/clinvar/319891 ^@ NM_000339.2(SLC12A3):c.409G>A (p.Gly137Ser) http://identifiers.org/clinvar/303940 ^@ NM_003282.3(TNNI2):c.387G>A (p.Ser129=) http://identifiers.org/clinvar/303941 ^@ NM_003282.3(TNNI2):c.*27C>T http://identifiers.org/clinvar/303944 ^@ NM_003476.4(CSRP3):c.*638T>C http://identifiers.org/clinvar/303025 ^@ NM_005422.2(TECTA):c.4337C>G (p.Thr1446Arg) http://identifiers.org/clinvar/319895 ^@ NM_000339.2(SLC12A3):c.1125C>A (p.Thr375=) http://identifiers.org/clinvar/319903 ^@ NM_000339.2(SLC12A3):c.1387G>A (p.Gly463Arg) http://identifiers.org/clinvar/303947 ^@ NM_003476.4(CSRP3):c.*504A>G http://identifiers.org/clinvar/303948 ^@ NM_003476.4(CSRP3):c.*450T>G http://identifiers.org/clinvar/303949 ^@ NM_003476.4(CSRP3):c.*245T>C http://identifiers.org/clinvar/303028 ^@ NM_005422.2(TECTA):c.4842G>C (p.Leu1614=) http://identifiers.org/clinvar/319907 ^@ NM_000339.2(SLC12A3):c.1825+5G>A http://identifiers.org/clinvar/303030 ^@ NM_005422.2(TECTA):c.4977-12C>T http://identifiers.org/clinvar/319908 ^@ NM_000339.2(SLC12A3):c.1926-10C>G http://identifiers.org/clinvar/319920 ^@ NM_000339.2(SLC12A3):c.2947G>A (p.Val983Ile) http://identifiers.org/clinvar/303032 ^@ NM_005422.2(TECTA):c.5114A>G (p.Tyr1705Cys) http://identifiers.org/clinvar/319924 ^@ NM_000339.2(SLC12A3):c.*205A>G http://identifiers.org/clinvar/303036 ^@ NM_005422.2(TECTA):c.5586+12A>G http://identifiers.org/clinvar/303038 ^@ NM_005422.2(TECTA):c.5743A>C (p.Met1915Leu) http://identifiers.org/clinvar/309725 ^@ NM_015665.5(AAAS):c.1416+8C>T http://identifiers.org/clinvar/319929 ^@ NM_000339.2(SLC12A3):c.*349G>A http://identifiers.org/clinvar/309726 ^@ NM_015665.5(AAAS):c.1301G>A (p.Arg434Gln) http://identifiers.org/clinvar/303039 ^@ NM_005422.2(TECTA):c.5770C>A (p.Pro1924Thr) http://identifiers.org/clinvar/309729 ^@ NM_015665.5(AAAS):c.996+12C>T http://identifiers.org/clinvar/309730 ^@ NM_015665.5(AAAS):c.939C>T (p.Val313=) http://identifiers.org/clinvar/319935 ^@ NM_000339.2(SLC12A3):c.*516T>A http://identifiers.org/clinvar/303040 ^@ NM_005422.2(TECTA):c.5829A>G (p.Lys1943=) http://identifiers.org/clinvar/309734 ^@ NM_015665.5(AAAS):c.663C>G (p.Thr221=) http://identifiers.org/clinvar/309739 ^@ NM_015665.5(AAAS):c.234G>A (p.Lys78=) http://identifiers.org/clinvar/309742 ^@ NM_015665.5(AAAS):c.63C>G (p.His21Gln) http://identifiers.org/clinvar/303065 ^@ NM_006918.4(SC5D):c.*1087_*1090delTTAT http://identifiers.org/clinvar/319932 ^@ NM_000339.2(SLC12A3):c.*524dupT http://identifiers.org/clinvar/319942 ^@ NM_000339.2(SLC12A3):c.*931C>T http://identifiers.org/clinvar/319943 ^@ NM_000339.2(SLC12A3):c.*960A>T http://identifiers.org/clinvar/303068 ^@ NM_006918.4(SC5D):c.*1223A>T http://identifiers.org/clinvar/303071 ^@ NM_006918.4(SC5D):c.*1711T>C http://identifiers.org/clinvar/309747 ^@ NM_001173467.2(SP7):c.*1436C>T http://identifiers.org/clinvar/309751 ^@ NM_001173467.2(SP7):c.*1211_*1212insATCAA http://identifiers.org/clinvar/303072 ^@ NM_006918.4(SC5D):c.*1818A>G http://identifiers.org/clinvar/303952 ^@ NM_003476.4(CSRP3):c.415-11G>T http://identifiers.org/clinvar/319949 ^@ NM_000339.2(SLC12A3):c.*1301A>C http://identifiers.org/clinvar/309753 ^@ NM_001173467.2(SP7):c.*1052C>A http://identifiers.org/clinvar/303076 ^@ NM_006918.4(SC5D):c.*2183C>G http://identifiers.org/clinvar/303077 ^@ NM_006918.4(SC5D):c.*2265C>G http://identifiers.org/clinvar/303966 ^@ NM_006757.3(TNNT3):c.-83G>A http://identifiers.org/clinvar/303080 ^@ NM_006918.4(SC5D):c.*2520A>G http://identifiers.org/clinvar/319951 ^@ NM_000339.2(SLC12A3):c.*1524C>T http://identifiers.org/clinvar/319956 ^@ NM_000339.2(SLC12A3):c.*1745T>C http://identifiers.org/clinvar/309763 ^@ NM_001173467.2(SP7):c.993C>T (p.Cys331=) http://identifiers.org/clinvar/309765 ^@ NM_001173467.2(SP7):c.799C>T (p.Arg267Cys) http://identifiers.org/clinvar/319957 ^@ NM_000339.2(SLC12A3):c.*1851A>G http://identifiers.org/clinvar/309767 ^@ NM_001173467.2(SP7):c.-47-14A>C http://identifiers.org/clinvar/309771 ^@ NM_002206.2(ITGA7):c.*418A>G http://identifiers.org/clinvar/309772 ^@ NM_002206.2(ITGA7):c.*389G>C http://identifiers.org/clinvar/303084 ^@ NM_006918.4(SC5D):c.*2819T>C http://identifiers.org/clinvar/303961 ^@ NM_003476.4(CSRP3):c.-181delC http://identifiers.org/clinvar/309780 ^@ NM_002206.2(ITGA7):c.3057+12G>C http://identifiers.org/clinvar/303100 ^@ NM_006918.4(SC5D):c.*3665C>T http://identifiers.org/clinvar/303105 ^@ NM_006918.4(SC5D):c.*4597A>T http://identifiers.org/clinvar/319958 ^@ NM_000339.2(SLC12A3):c.*1896A>T http://identifiers.org/clinvar/319959 ^@ NM_000339.2(SLC12A3):c.*2030T>C http://identifiers.org/clinvar/319962 ^@ NM_000339.2(SLC12A3):c.*2084G>A http://identifiers.org/clinvar/309782 ^@ NM_002206.2(ITGA7):c.2485G>A (p.Ala829Thr) http://identifiers.org/clinvar/319966 ^@ NM_000339.2(SLC12A3):c.*2358T>C http://identifiers.org/clinvar/303969 ^@ NM_006757.3(TNNT3):c.101C>T (p.Ala34Val) http://identifiers.org/clinvar/303972 ^@ NM_006757.3(TNNT3):c.429G>A (p.Lys143=) http://identifiers.org/clinvar/309795 ^@ NM_002206.2(ITGA7):c.903C>T (p.Ser301=) http://identifiers.org/clinvar/319968 ^@ NM_000339.2(SLC12A3):c.*2412delA http://identifiers.org/clinvar/309796 ^@ NM_002206.2(ITGA7):c.670+15G>A http://identifiers.org/clinvar/319980 ^@ NM_000078.2(CETP):c.534G>A (p.Gly178=) http://identifiers.org/clinvar/303975 ^@ NM_006757.3(TNNT3):c.515G>A (p.Arg172Gln) http://identifiers.org/clinvar/303981 ^@ NM_006757.3(TNNT3):c.*86C>T http://identifiers.org/clinvar/309800 ^@ NM_002206.2(ITGA7):c.415-3C>T http://identifiers.org/clinvar/319981 ^@ NM_000078.2(CETP):c.658+8C>T http://identifiers.org/clinvar/309801 ^@ NM_002206.2(ITGA7):c.69C>T (p.Leu23=) http://identifiers.org/clinvar/319986 ^@ NM_000078.2(CETP):c.991G>A (p.Gly331Ser) http://identifiers.org/clinvar/319997 ^@ NM_000078.2(CETP):c.1377C>T (p.Asp459=) http://identifiers.org/clinvar/303106 ^@ NM_006918.4(SC5D):c.*4752A>T http://identifiers.org/clinvar/303987 ^@ NM_004211.4(SLC6A5):c.-138G>A http://identifiers.org/clinvar/309803 ^@ NM_002206.2(ITGA7):c.-58G>A http://identifiers.org/clinvar/309812 ^@ NM_002905.3(RDH5):c.417T>A (p.Gly139=) http://identifiers.org/clinvar/309817 ^@ NM_002905.3(RDH5):c.*12C>A http://identifiers.org/clinvar/303988 ^@ NM_004211.4(SLC6A5):c.-91A>G http://identifiers.org/clinvar/303996 ^@ NM_004211.4(SLC6A5):c.95C>T (p.Pro32Leu) http://identifiers.org/clinvar/303109 ^@ NM_006918.4(SC5D):c.*5018T>C http://identifiers.org/clinvar/319998 ^@ NM_000078.2(CETP):c.1402C>T (p.Arg468Ter) http://identifiers.org/clinvar/319999 ^@ NM_000078.2(CETP):c.1403G>A (p.Arg468Gln) http://identifiers.org/clinvar/304009 ^@ NM_004211.4(SLC6A5):c.395C>G (p.Ala132Gly) http://identifiers.org/clinvar/304011 ^@ NM_004211.4(SLC6A5):c.485G= (p.Gly162=) http://identifiers.org/clinvar/309821 ^@ NM_000456.2(SUOX):c.-322C>T http://identifiers.org/clinvar/320000 ^@ NM_000078.2(CETP):c.*84G>A http://identifiers.org/clinvar/303111 ^@ NM_006918.4(SC5D):c.*5132C>T http://identifiers.org/clinvar/320010 ^@ NM_020312.3(COQ9):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/320014 ^@ NM_020312.3(COQ9):c.*456C>A http://identifiers.org/clinvar/304012 ^@ NM_004211.4(SLC6A5):c.500C>A (p.Thr167Lys) http://identifiers.org/clinvar/320015 ^@ NM_020312.3(COQ9):c.*490T>C http://identifiers.org/clinvar/303113 ^@ NM_006918.4(SC5D):c.*5239_*5241delAAA http://identifiers.org/clinvar/303114 ^@ NM_006918.4(SC5D):c.*5258delA http://identifiers.org/clinvar/303117 ^@ NM_006918.4(SC5D):c.*5324A>C http://identifiers.org/clinvar/309822 ^@ NM_000456.2(SUOX):c.-211G>A http://identifiers.org/clinvar/309833 ^@ NM_000456.2(SUOX):c.228G>T (p.Arg76Ser) http://identifiers.org/clinvar/303119 ^@ NM_006918.4(SC5D):c.*5357T>C http://identifiers.org/clinvar/309834 ^@ NM_000456.2(SUOX):c.279C>T (p.His93=) http://identifiers.org/clinvar/309836 ^@ NM_000456.2(SUOX):c.507C>T (p.Thr169=) http://identifiers.org/clinvar/309838 ^@ NM_000456.2(SUOX):c.889C>T (p.Arg297Trp) http://identifiers.org/clinvar/304015 ^@ NM_004211.4(SLC6A5):c.950C>T (p.Thr317Met) http://identifiers.org/clinvar/309846 ^@ NM_000456.2(SUOX):c.*155C>T http://identifiers.org/clinvar/320021 ^@ NM_001297.4(CNGB1):c.*1544T>C http://identifiers.org/clinvar/303124 ^@ NM_006918.4(SC5D):c.*5834A>G http://identifiers.org/clinvar/320022 ^@ NM_001297.4(CNGB1):c.*1462A>G http://identifiers.org/clinvar/320025 ^@ NM_001297.4(CNGB1):c.*1364delA http://identifiers.org/clinvar/320026 ^@ NM_001297.4(CNGB1):c.*1351delC http://identifiers.org/clinvar/303126 ^@ NM_018400.3(SCN3B):c.*4541A>G http://identifiers.org/clinvar/303127 ^@ NM_018400.3(SCN3B):c.*4537C>T http://identifiers.org/clinvar/303129 ^@ NM_018400.3(SCN3B):c.*4450G>A http://identifiers.org/clinvar/320031 ^@ NM_001297.4(CNGB1):c.*1018A>C http://identifiers.org/clinvar/320033 ^@ NM_001297.4(CNGB1):c.*919G>A http://identifiers.org/clinvar/309851 ^@ NM_001029.3(RPS26):c.-149G>T http://identifiers.org/clinvar/309852 ^@ NM_001029.3(RPS26):c.-80C>T http://identifiers.org/clinvar/320034 ^@ NM_001297.4(CNGB1):c.*918C>A http://identifiers.org/clinvar/320035 ^@ NM_001297.4(CNGB1):c.*904_*907delAAAG http://identifiers.org/clinvar/320037 ^@ NM_001297.4(CNGB1):c.*882G>A http://identifiers.org/clinvar/303139 ^@ NM_018400.3(SCN3B):c.*3612A>G http://identifiers.org/clinvar/303140 ^@ NM_018400.3(SCN3B):c.*3444A>T http://identifiers.org/clinvar/303146 ^@ NM_018400.3(SCN3B):c.*2798_*2800delGAA http://identifiers.org/clinvar/304017 ^@ NM_004211.4(SLC6A5):c.1169G>T (p.Gly390Val) http://identifiers.org/clinvar/304018 ^@ NM_004211.4(SLC6A5):c.1230G= (p.Ser410=) http://identifiers.org/clinvar/309864 ^@ NM_012064.3(MIP):c.*1237_*1238dupTT http://identifiers.org/clinvar/303159 ^@ NM_018400.3(SCN3B):c.*2174dupG http://identifiers.org/clinvar/303160 ^@ NM_018400.3(SCN3B):c.*2056C>G http://identifiers.org/clinvar/303161 ^@ NM_018400.3(SCN3B):c.*1956_*1959delTATT http://identifiers.org/clinvar/304024 ^@ NM_004211.4(SLC6A5):c.1413C>T (p.Ala471=) http://identifiers.org/clinvar/309863 ^@ NM_012064.3(MIP):c.*1238dupT http://identifiers.org/clinvar/320051 ^@ NM_001297.4(CNGB1):c.*116G>A http://identifiers.org/clinvar/320057 ^@ NM_001297.4(CNGB1):c.3584C>G (p.Ser1195Cys) http://identifiers.org/clinvar/309866 ^@ NM_012064.3(MIP):c.*1171C>A http://identifiers.org/clinvar/304028 ^@ NM_004211.4(SLC6A5):c.1585A>C (p.Asn529His) http://identifiers.org/clinvar/309868 ^@ NM_012064.3(MIP):c.*799A>G http://identifiers.org/clinvar/309874 ^@ NM_012064.3(MIP):c.*601G>A http://identifiers.org/clinvar/303167 ^@ NM_018400.3(SCN3B):c.*1685A>G http://identifiers.org/clinvar/309875 ^@ NM_012064.3(MIP):c.*505T>C http://identifiers.org/clinvar/304035 ^@ NM_004211.4(SLC6A5):c.2119T>C (p.Ser707Pro) http://identifiers.org/clinvar/309877 ^@ NM_012064.3(MIP):c.*407A>G http://identifiers.org/clinvar/309879 ^@ NM_012064.3(MIP):c.*284T>C http://identifiers.org/clinvar/309882 ^@ NM_012064.3(MIP):c.*132delG http://identifiers.org/clinvar/303180 ^@ NM_018400.3(SCN3B):c.*892C>A http://identifiers.org/clinvar/304057 ^@ NM_000207.2(INS):c.36G>A (p.Ala12=) http://identifiers.org/clinvar/304065 ^@ NM_000360.3(TH):c.1470C>G (p.Ala490=) http://identifiers.org/clinvar/320059 ^@ NM_001297.4(CNGB1):c.3462+7T>C http://identifiers.org/clinvar/309884 ^@ NM_012064.3(MIP):c.493G>A (p.Gly165Ser) http://identifiers.org/clinvar/320060 ^@ NM_001297.4(CNGB1):c.3421G>A (p.Ala1141Thr) http://identifiers.org/clinvar/320064 ^@ NM_001297.4(CNGB1):c.3309G>A (p.Ala1103=) http://identifiers.org/clinvar/309885 ^@ NM_012064.3(MIP):c.378C>T (p.Ser126=) http://identifiers.org/clinvar/304069 ^@ NM_000360.3(TH):c.1278G>A (p.Thr426=) http://identifiers.org/clinvar/304073 ^@ NM_000360.3(TH):c.1035G>T (p.Ala345=) http://identifiers.org/clinvar/304078 ^@ NM_000360.3(TH):c.406G>A (p.Val136Met) http://identifiers.org/clinvar/303181 ^@ NM_018400.3(SCN3B):c.*888A>G http://identifiers.org/clinvar/303182 ^@ NM_018400.3(SCN3B):c.*869A>G http://identifiers.org/clinvar/304083 ^@ NM_000360.3(TH):c.263C>T (p.Pro88Leu) http://identifiers.org/clinvar/304085 ^@ NM_000360.3(TH):c.115C>G (p.Gln39Glu) http://identifiers.org/clinvar/303185 ^@ NM_018400.3(SCN3B):c.*657A>G http://identifiers.org/clinvar/320067 ^@ NM_001297.4(CNGB1):c.2892+6C>T http://identifiers.org/clinvar/320069 ^@ NM_001297.4(CNGB1):c.2862C>T (p.Tyr954=) http://identifiers.org/clinvar/303188 ^@ NM_018400.3(SCN3B):c.*447C>A http://identifiers.org/clinvar/320075 ^@ NM_001297.4(CNGB1):c.2517T>C (p.Ala839=) http://identifiers.org/clinvar/320085 ^@ NM_001297.4(CNGB1):c.1870G>C (p.Glu624Gln) http://identifiers.org/clinvar/304086 ^@ NM_000360.3(TH):c.44G>A (p.Arg15His) http://identifiers.org/clinvar/304095 ^@ NM_213599.2(ANO5):c.79A>C (p.Met27Leu) http://identifiers.org/clinvar/304096 ^@ NM_213599.2(ANO5):c.88-14C>T http://identifiers.org/clinvar/309886 ^@ NM_012064.3(MIP):c.361-10C>T http://identifiers.org/clinvar/303190 ^@ NM_018400.3(SCN3B):c.*104G>A http://identifiers.org/clinvar/304099 ^@ NM_213599.2(ANO5):c.567A>G (p.Ala189=) http://identifiers.org/clinvar/304100 ^@ NM_213599.2(ANO5):c.584G>A (p.Arg195Gln) http://identifiers.org/clinvar/304121 ^@ NM_213599.2(ANO5):c.*496A>G http://identifiers.org/clinvar/303193 ^@ NM_018400.3(SCN3B):c.-9C>T http://identifiers.org/clinvar/309887 ^@ NM_012064.3(MIP):c.98G>A (p.Arg33His) http://identifiers.org/clinvar/303195 ^@ NM_018400.3(SCN3B):c.-85G>T http://identifiers.org/clinvar/304128 ^@ NM_213599.2(ANO5):c.*1119C>T http://identifiers.org/clinvar/303201 ^@ NM_018400.3(SCN3B):c.-252G>T http://identifiers.org/clinvar/304132 ^@ NM_213599.2(ANO5):c.*1328C>T http://identifiers.org/clinvar/320087 ^@ NM_001297.4(CNGB1):c.1803C>A (p.Ser601=) http://identifiers.org/clinvar/320088 ^@ NM_001297.4(CNGB1):c.1802-14A>G http://identifiers.org/clinvar/303202 ^@ NM_018400.3(SCN3B):c.-253G>C http://identifiers.org/clinvar/303204 ^@ NM_018400.3(SCN3B):c.-339C>G http://identifiers.org/clinvar/303206 ^@ NM_018400.3(SCN3B):c.-393C>A http://identifiers.org/clinvar/303207 ^@ NM_018400.3(SCN3B):c.-431G>A http://identifiers.org/clinvar/320091 ^@ NM_001297.4(CNGB1):c.1631C>T (p.Pro544Leu) http://identifiers.org/clinvar/303209 ^@ NM_018400.3(SCN3B):c.-489G>T http://identifiers.org/clinvar/303210 ^@ NM_018400.3(SCN3B):c.-538G>A http://identifiers.org/clinvar/304134 ^@ NM_213599.2(ANO5):c.*1521T>C http://identifiers.org/clinvar/320094 ^@ NM_001297.4(CNGB1):c.1482T>C (p.Ser494=) http://identifiers.org/clinvar/320100 ^@ NM_001297.4(CNGB1):c.1056G>A (p.Glu352=) http://identifiers.org/clinvar/320107 ^@ NM_001297.4(CNGB1):c.440T>G (p.Leu147Arg) http://identifiers.org/clinvar/303215 ^@ NM_018400.3(SCN3B):c.-763G>A http://identifiers.org/clinvar/303221 ^@ NM_022370.3(ROBO3):c.468C>T (p.Asn156=) http://identifiers.org/clinvar/309890 ^@ NM_005379.3(MYO1A):c.*234G>T http://identifiers.org/clinvar/320108 ^@ NM_001297.4(CNGB1):c.412+8C>A http://identifiers.org/clinvar/320114 ^@ NM_001297.4(CNGB1):c.105G>A (p.Ala35=) http://identifiers.org/clinvar/309894 ^@ NM_005379.3(MYO1A):c.3096A>G (p.Lys1032=) http://identifiers.org/clinvar/304136 ^@ NM_213599.2(ANO5):c.*1661C>T http://identifiers.org/clinvar/309896 ^@ NM_005379.3(MYO1A):c.2985T>C (p.Leu995=) http://identifiers.org/clinvar/304140 ^@ NM_213599.2(ANO5):c.*1762delA http://identifiers.org/clinvar/320117 ^@ NM_004614.4(TK2):c.*3786C>T http://identifiers.org/clinvar/303229 ^@ NM_022370.3(ROBO3):c.769C>T (p.Arg257Cys) http://identifiers.org/clinvar/320122 ^@ NM_004614.4(TK2):c.*2902C>T http://identifiers.org/clinvar/303238 ^@ NM_022370.3(ROBO3):c.1485C>A (p.Asp495Glu) http://identifiers.org/clinvar/303242 ^@ NM_022370.3(ROBO3):c.1617G>A (p.Arg539=) http://identifiers.org/clinvar/304143 ^@ NM_213599.2(ANO5):c.*1941C>T http://identifiers.org/clinvar/320123 ^@ NM_004614.4(TK2):c.*2773C>G http://identifiers.org/clinvar/303245 ^@ NM_022370.3(ROBO3):c.1824C>T (p.Gly608=) http://identifiers.org/clinvar/309904 ^@ NM_005379.3(MYO1A):c.2485-14C>T http://identifiers.org/clinvar/320130 ^@ NM_004614.4(TK2):c.*1758_*1759insTT http://identifiers.org/clinvar/320132 ^@ NM_004614.4(TK2):c.*1756_*1757dupTT http://identifiers.org/clinvar/320134 ^@ NM_004614.4(TK2):c.*1740T>C http://identifiers.org/clinvar/309906 ^@ NM_005379.3(MYO1A):c.2206-15C>G http://identifiers.org/clinvar/309909 ^@ NM_005379.3(MYO1A):c.1962-9C>T http://identifiers.org/clinvar/303249 ^@ NM_022370.3(ROBO3):c.2102G>T (p.Gly701Val) http://identifiers.org/clinvar/320139 ^@ NM_004614.4(TK2):c.*1591dupT http://identifiers.org/clinvar/309910 ^@ NM_005379.3(MYO1A):c.1927C>T (p.Arg643Trp) http://identifiers.org/clinvar/320141 ^@ NM_004614.4(TK2):c.*1455C>G http://identifiers.org/clinvar/320143 ^@ NM_004614.4(TK2):c.*1403A>G http://identifiers.org/clinvar/320144 ^@ NM_004614.4(TK2):c.*1333G>T http://identifiers.org/clinvar/303250 ^@ NM_022370.3(ROBO3):c.2183G>A (p.Ser728Asn) http://identifiers.org/clinvar/303257 ^@ NM_022370.3(ROBO3):c.2697A>G (p.Ala899=) http://identifiers.org/clinvar/304147 ^@ NM_213599.2(ANO5):c.*2252T>C http://identifiers.org/clinvar/320147 ^@ NM_004614.4(TK2):c.*833T>G http://identifiers.org/clinvar/320152 ^@ NM_004614.4(TK2):c.*595G>A http://identifiers.org/clinvar/303258 ^@ NM_022370.3(ROBO3):c.2763G>C (p.Glu921Asp) http://identifiers.org/clinvar/303262 ^@ NM_022370.3(ROBO3):c.2991G>A (p.Ala997=) http://identifiers.org/clinvar/309916 ^@ NM_005379.3(MYO1A):c.1079G>A (p.Arg360Gln) http://identifiers.org/clinvar/309924 ^@ NM_005379.3(MYO1A):c.122T>C (p.Ile41Thr) http://identifiers.org/clinvar/303263 ^@ NM_022370.3(ROBO3):c.2993G>T (p.Gly998Val) http://identifiers.org/clinvar/303265 ^@ NM_022370.3(ROBO3):c.3139T>G (p.Trp1047Gly) http://identifiers.org/clinvar/303266 ^@ NM_022370.3(ROBO3):c.3182-5_3182-3delCTC http://identifiers.org/clinvar/309925 ^@ NM_005379.3(MYO1A):c.-20-12T>C http://identifiers.org/clinvar/303277 ^@ NM_022370.3(ROBO3):c.3921C>T (p.Ala1307=) http://identifiers.org/clinvar/320160 ^@ NM_004614.4(TK2):c.-48G>A http://identifiers.org/clinvar/320162 ^@ NM_001538.3(HSF4):c.-944G>A http://identifiers.org/clinvar/303286 ^@ NM_022370.3(ROBO3):c.*111C>T http://identifiers.org/clinvar/303287 ^@ NM_022370.3(ROBO3):c.*159_*162delCTTT http://identifiers.org/clinvar/303295 ^@ NM_152722.4(HEPACAM):c.*1279A>G http://identifiers.org/clinvar/320166 ^@ NM_001538.3(HSF4):c.-759A>G http://identifiers.org/clinvar/320167 ^@ NM_001538.3(HSF4):c.-622G>C http://identifiers.org/clinvar/320174 ^@ NM_001538.3(HSF4):c.-191C>G http://identifiers.org/clinvar/309926 ^@ NM_005379.3(MYO1A):c.-164C>G http://identifiers.org/clinvar/320189 ^@ NM_001538.3(HSF4):c.1047G>A (p.Pro349=) http://identifiers.org/clinvar/303311 ^@ NM_152722.4(HEPACAM):c.*392C>T http://identifiers.org/clinvar/303312 ^@ NM_152722.4(HEPACAM):c.*363dupT http://identifiers.org/clinvar/303314 ^@ NM_152722.4(HEPACAM):c.*270C>G http://identifiers.org/clinvar/304150 ^@ NM_213599.2(ANO5):c.*2296T>C http://identifiers.org/clinvar/309928 ^@ NM_005379.3(MYO1A):c.-222G>A http://identifiers.org/clinvar/303316 ^@ NM_152722.4(HEPACAM):c.*192T>C http://identifiers.org/clinvar/309930 ^@ NM_004984.2(KIF5A):c.292-14C>A http://identifiers.org/clinvar/320197 ^@ NM_000229.1(LCAT):c.1039C>T (p.Arg347Cys) http://identifiers.org/clinvar/309938 ^@ NM_004984.2(KIF5A):c.1176G>A (p.Glu392=) http://identifiers.org/clinvar/304151 ^@ NM_213599.2(ANO5):c.*2357A>T http://identifiers.org/clinvar/304157 ^@ NM_213599.2(ANO5):c.*2947A>T http://identifiers.org/clinvar/303319 ^@ NM_152722.4(HEPACAM):c.*112G>T http://identifiers.org/clinvar/320201 ^@ NM_000229.1(LCAT):c.159C>T (p.Pro53=) http://identifiers.org/clinvar/304160 ^@ NM_213599.2(ANO5):c.*3152G>A http://identifiers.org/clinvar/303323 ^@ NM_152722.4(HEPACAM):c.*88G>T http://identifiers.org/clinvar/303325 ^@ NM_152722.4(HEPACAM):c.1072G>A (p.Ala358Thr) http://identifiers.org/clinvar/303329 ^@ NM_152722.4(HEPACAM):c.803+6G>A http://identifiers.org/clinvar/320202 ^@ NM_001793.5(CDH3):c.-1085A>G http://identifiers.org/clinvar/320210 ^@ NM_001793.5(CDH3):c.-628G>A http://identifiers.org/clinvar/320221 ^@ NM_001793.5(CDH3):c.-36C>T http://identifiers.org/clinvar/320225 ^@ NM_001793.5(CDH3):c.318G>A (p.Lys106=) http://identifiers.org/clinvar/309941 ^@ NM_004984.2(KIF5A):c.1932G>A (p.Thr644=) http://identifiers.org/clinvar/309942 ^@ NM_004984.2(KIF5A):c.2040G>A (p.Val680=) http://identifiers.org/clinvar/309943 ^@ NM_004984.2(KIF5A):c.2271C>T (p.His757=) http://identifiers.org/clinvar/320226 ^@ NM_001793.5(CDH3):c.390+5G>A http://identifiers.org/clinvar/309946 ^@ NM_004984.2(KIF5A):c.2775C>A (p.Gly925=) http://identifiers.org/clinvar/309947 ^@ NM_004984.2(KIF5A):c.2838C>T (p.Tyr946=) http://identifiers.org/clinvar/303331 ^@ NM_152722.4(HEPACAM):c.591C>T (p.Pro197=) http://identifiers.org/clinvar/320229 ^@ NM_001793.5(CDH3):c.720G>A (p.Thr240=) http://identifiers.org/clinvar/320233 ^@ NM_001793.5(CDH3):c.1011G>C (p.Val337=) http://identifiers.org/clinvar/303333 ^@ NM_152722.4(HEPACAM):c.291C>G (p.Asp97Glu) http://identifiers.org/clinvar/303334 ^@ NM_152722.4(HEPACAM):c.288A>C (p.Arg96=) http://identifiers.org/clinvar/320239 ^@ NM_001793.5(CDH3):c.1339G>A (p.Val447Ile) http://identifiers.org/clinvar/320241 ^@ NM_001793.5(CDH3):c.1571-7C>G http://identifiers.org/clinvar/303336 ^@ NM_152722.4(HEPACAM):c.254C>T (p.Thr85Ile) http://identifiers.org/clinvar/320244 ^@ NM_001793.5(CDH3):c.1681G>A (p.Val561Met) http://identifiers.org/clinvar/309953 ^@ NM_004984.2(KIF5A):c.*36+5C>T http://identifiers.org/clinvar/309955 ^@ NM_004984.2(KIF5A):c.*170T>A http://identifiers.org/clinvar/309957 ^@ NM_004984.2(KIF5A):c.*326G>C http://identifiers.org/clinvar/304161 ^@ NM_213599.2(ANO5):c.*3155T>C http://identifiers.org/clinvar/304165 ^@ NM_213599.2(ANO5):c.*3206A>G http://identifiers.org/clinvar/304171 ^@ NM_213599.2(ANO5):c.*3473T>G http://identifiers.org/clinvar/303338 ^@ NM_152722.4(HEPACAM):c.87C>G (p.Asp29Glu) http://identifiers.org/clinvar/309962 ^@ NM_004984.2(KIF5A):c.*492A>T http://identifiers.org/clinvar/309964 ^@ NM_000075.3(CDK4):c.*762_*763delGT http://identifiers.org/clinvar/309995 ^@ NM_000785.3(CYP27B1):c.1505A>G (p.Asn502Ser) http://identifiers.org/clinvar/303339 ^@ NM_152722.4(HEPACAM):c.15G>T (p.Arg5Ser) http://identifiers.org/clinvar/304170 ^@ NM_213599.2(ANO5):c.*3481dupT http://identifiers.org/clinvar/303342 ^@ NM_152722.4(HEPACAM):c.-67G>T http://identifiers.org/clinvar/304174 ^@ NM_022725.3(FANCF):c.*1696G>A http://identifiers.org/clinvar/309998 ^@ NM_000785.3(CYP27B1):c.801C>T (p.His267=) http://identifiers.org/clinvar/303348 ^@ NM_145014.2(HYLS1):c.-402C>T http://identifiers.org/clinvar/304179 ^@ NM_022725.3(FANCF):c.*1525T>G http://identifiers.org/clinvar/310001 ^@ NM_000785.3(CYP27B1):c.541G>T (p.Ala181Ser) http://identifiers.org/clinvar/304189 ^@ NM_022725.3(FANCF):c.*655_*659delATTAA http://identifiers.org/clinvar/320253 ^@ NM_001793.5(CDH3):c.2361C>T (p.Ser787=) http://identifiers.org/clinvar/320262 ^@ NM_001793.5(CDH3):c.*529G>A http://identifiers.org/clinvar/304190 ^@ NM_022725.3(FANCF):c.*632G>A http://identifiers.org/clinvar/304196 ^@ NM_022725.3(FANCF):c.*287C>T http://identifiers.org/clinvar/304198 ^@ NM_022725.3(FANCF):c.*106T>C http://identifiers.org/clinvar/303356 ^@ NM_145014.2(HYLS1):c.-81+10_-81+11insA http://identifiers.org/clinvar/304206 ^@ NM_022725.3(FANCF):c.210C>T (p.Gly70=) http://identifiers.org/clinvar/320264 ^@ NM_004360.4(CDH1):c.1137+9A>T http://identifiers.org/clinvar/304209 ^@ NM_022725.3(FANCF):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/320268 ^@ NM_004360.4(CDH1):c.*172A>C http://identifiers.org/clinvar/304212 ^@ NM_000218.2(KCNQ1):c.-69G>A http://identifiers.org/clinvar/320272 ^@ NM_004360.4(CDH1):c.*209C>T http://identifiers.org/clinvar/310004 ^@ NM_000785.3(CYP27B1):c.40C>T (p.Arg14Cys) http://identifiers.org/clinvar/320274 ^@ NM_004360.4(CDH1):c.*309C>T http://identifiers.org/clinvar/303357 ^@ NM_145014.2(HYLS1):c.-81+10_-81+11insAA http://identifiers.org/clinvar/320281 ^@ NM_004360.4(CDH1):c.*589C>T http://identifiers.org/clinvar/304214 ^@ NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) http://identifiers.org/clinvar/304215 ^@ NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) http://identifiers.org/clinvar/320286 ^@ NM_004360.4(CDH1):c.*774A>G http://identifiers.org/clinvar/320287 ^@ NM_004360.4(CDH1):c.*959C>A http://identifiers.org/clinvar/303360 ^@ NM_145014.2(HYLS1):c.-81+28dupA http://identifiers.org/clinvar/320288 ^@ NM_004360.4(CDH1):c.*988G>A http://identifiers.org/clinvar/320302 ^@ NM_004360.4(CDH1):c.*1974_*1978delTTCAA http://identifiers.org/clinvar/303362 ^@ NM_145014.2(HYLS1):c.86A>C (p.His29Pro) http://identifiers.org/clinvar/310006 ^@ NM_001172696.1(TSFM):c.30T>C (p.Phe10=) http://identifiers.org/clinvar/304218 ^@ NM_000218.2(KCNQ1):c.781-6G>T http://identifiers.org/clinvar/320314 ^@ NM_032382.4(COG8):c.903C>G (p.Pro301=) http://identifiers.org/clinvar/304219 ^@ NM_000218.2(KCNQ1):c.972C>T (p.Val324=) http://identifiers.org/clinvar/310008 ^@ NM_001172696.1(TSFM):c.232-8A>G http://identifiers.org/clinvar/320322 ^@ NM_001605.2(AARS):c.*169C>G http://identifiers.org/clinvar/303364 ^@ NM_145014.2(HYLS1):c.298C>T (p.Arg100Cys) http://identifiers.org/clinvar/320326 ^@ NM_001605.2(AARS):c.2700G>A (p.Thr900=) http://identifiers.org/clinvar/310009 ^@ NM_001172696.1(TSFM):c.233C>T (p.Ala78Val) http://identifiers.org/clinvar/310013 ^@ NM_001172696.1(TSFM):c.408G>A (p.Leu136=) http://identifiers.org/clinvar/310021 ^@ NM_001172696.1(TSFM):c.*20C>T http://identifiers.org/clinvar/303365 ^@ NM_145014.2(HYLS1):c.468A>G (p.Leu156=) http://identifiers.org/clinvar/323211 ^@ NM_139276.2(STAT3):c.*2002G>A http://identifiers.org/clinvar/321054 ^@ NM_001127464.2(ZNF469):c.*664C>T http://identifiers.org/clinvar/330427 ^@ NM_000208.3(INSR):c.*355_*356delTG http://identifiers.org/clinvar/323217 ^@ NM_139276.2(STAT3):c.*1673C>T http://identifiers.org/clinvar/330429 ^@ NM_000208.3(INSR):c.*348_*355dupTTTTTTTT http://identifiers.org/clinvar/323220 ^@ NM_139276.2(STAT3):c.*1497G>A http://identifiers.org/clinvar/321062 ^@ NM_001127464.2(ZNF469):c.*921_*922insG http://identifiers.org/clinvar/330432 ^@ NM_000208.3(INSR):c.*289delA http://identifiers.org/clinvar/323221 ^@ NM_139276.2(STAT3):c.*1415C>G http://identifiers.org/clinvar/330438 ^@ NM_000208.3(INSR):c.4082A>G (p.Tyr1361Cys) http://identifiers.org/clinvar/321064 ^@ NM_001127464.2(ZNF469):c.*1001A>G http://identifiers.org/clinvar/330441 ^@ NM_000208.3(INSR):c.3669C>T (p.Gly1223=) http://identifiers.org/clinvar/321066 ^@ NM_001127464.2(ZNF469):c.*1323G>A http://identifiers.org/clinvar/330445 ^@ NM_000208.3(INSR):c.3370-15G>A http://identifiers.org/clinvar/330447 ^@ NM_000208.3(INSR):c.3033C>T (p.Tyr1011=) http://identifiers.org/clinvar/330457 ^@ NM_000208.3(INSR):c.2542+3A>G http://identifiers.org/clinvar/330458 ^@ NM_000208.3(INSR):c.2526G>C (p.Ala842=) http://identifiers.org/clinvar/323223 ^@ NM_139276.2(STAT3):c.*1325A>G http://identifiers.org/clinvar/323225 ^@ NM_139276.2(STAT3):c.*1270C>T http://identifiers.org/clinvar/323233 ^@ NM_139276.2(STAT3):c.*669C>T http://identifiers.org/clinvar/321224 ^@ NM_000303.2(PMM2):c.*26C>T http://identifiers.org/clinvar/321225 ^@ NM_000303.2(PMM2):c.*52C>T http://identifiers.org/clinvar/323239 ^@ NM_139276.2(STAT3):c.*260G>A http://identifiers.org/clinvar/321226 ^@ NM_000303.2(PMM2):c.*53G>C http://identifiers.org/clinvar/330460 ^@ NM_000208.3(INSR):c.2448G>A (p.Thr816=) http://identifiers.org/clinvar/330465 ^@ NM_000208.3(INSR):c.2245G>A (p.Gly749Ser) http://identifiers.org/clinvar/321227 ^@ NM_000303.2(PMM2):c.*81C>T http://identifiers.org/clinvar/330468 ^@ NM_000208.3(INSR):c.1918C>T (p.Leu640=) http://identifiers.org/clinvar/321229 ^@ NM_000303.2(PMM2):c.*136A>C http://identifiers.org/clinvar/321231 ^@ NM_000303.2(PMM2):c.*175G>A http://identifiers.org/clinvar/321235 ^@ NM_000303.2(PMM2):c.*365G>T http://identifiers.org/clinvar/321240 ^@ NM_000303.2(PMM2):c.*476C>T http://identifiers.org/clinvar/321241 ^@ NM_000303.2(PMM2):c.*492C>G http://identifiers.org/clinvar/321242 ^@ NM_000303.2(PMM2):c.*534G>A http://identifiers.org/clinvar/321251 ^@ NM_000303.2(PMM2):c.*891C>T http://identifiers.org/clinvar/321252 ^@ NM_000303.2(PMM2):c.*959C>G http://identifiers.org/clinvar/330470 ^@ NM_000208.3(INSR):c.1638C>T (p.Asp546=) http://identifiers.org/clinvar/330472 ^@ NM_000208.3(INSR):c.1123+13G>T http://identifiers.org/clinvar/321255 ^@ NM_000303.2(PMM2):c.*997A>G http://identifiers.org/clinvar/330475 ^@ NM_000208.3(INSR):c.783C>T (p.Asp261=) http://identifiers.org/clinvar/321256 ^@ NM_000303.2(PMM2):c.*1032C>A http://identifiers.org/clinvar/330476 ^@ NM_000208.3(INSR):c.756C>T (p.Cys252=) http://identifiers.org/clinvar/321259 ^@ NM_000303.2(PMM2):c.*1074T>C http://identifiers.org/clinvar/330477 ^@ NM_000208.3(INSR):c.653-7_653-4dupTCTC http://identifiers.org/clinvar/323240 ^@ NM_139276.2(STAT3):c.*211A>C http://identifiers.org/clinvar/330481 ^@ NM_000208.3(INSR):c.14G>A (p.Gly5Asp) http://identifiers.org/clinvar/321267 ^@ NM_000303.2(PMM2):c.*1260C>T http://identifiers.org/clinvar/330482 ^@ NM_000208.3(INSR):c.-12G>C http://identifiers.org/clinvar/330494 ^@ NM_020533.2(MCOLN1):c.777+13G>A http://identifiers.org/clinvar/323245 ^@ NM_139276.2(STAT3):c.1237C>T (p.Leu413=) http://identifiers.org/clinvar/321274 ^@ NM_000303.2(PMM2):c.*1434C>A http://identifiers.org/clinvar/323246 ^@ NM_139276.2(STAT3):c.1101C>G (p.Cys367Trp) http://identifiers.org/clinvar/321157 ^@ NM_000485.2(APRT):c.*178A>C http://identifiers.org/clinvar/323254 ^@ NM_012232.5(CAVIN1):c.*2048T>C http://identifiers.org/clinvar/330496 ^@ NM_020533.2(MCOLN1):c.949G>A (p.Ala317Thr) http://identifiers.org/clinvar/323259 ^@ NM_012232.5(CAVIN1):c.*1704C>G http://identifiers.org/clinvar/323260 ^@ NM_012232.5(CAVIN1):c.*1591T>G http://identifiers.org/clinvar/330498 ^@ NM_020533.2(MCOLN1):c.1006C>T (p.Arg336Trp) http://identifiers.org/clinvar/323267 ^@ NM_012232.5(CAVIN1):c.*815A>G http://identifiers.org/clinvar/321158 ^@ NM_000485.2(APRT):c.*152C>T http://identifiers.org/clinvar/323272 ^@ NM_012232.5(CAVIN1):c.*363C>T http://identifiers.org/clinvar/321159 ^@ NM_000485.2(APRT):c.*122C>T http://identifiers.org/clinvar/321162 ^@ NM_000485.2(APRT):c.*3A>G http://identifiers.org/clinvar/323275 ^@ NM_012232.5(CAVIN1):c.*190A>G http://identifiers.org/clinvar/330511 ^@ NM_006702.4(PNPLA6):c.10C>T (p.Pro4Ser) http://identifiers.org/clinvar/330518 ^@ NM_006702.4(PNPLA6):c.859C>T (p.Leu287=) http://identifiers.org/clinvar/321168 ^@ NM_000512.4(GALNS):c.*701C>G http://identifiers.org/clinvar/323276 ^@ NM_012232.5(CAVIN1):c.*143C>G http://identifiers.org/clinvar/330520 ^@ NM_006702.4(PNPLA6):c.1136-6C>T http://identifiers.org/clinvar/321169 ^@ NM_000512.4(GALNS):c.*652A>G http://identifiers.org/clinvar/330521 ^@ NM_006702.4(PNPLA6):c.1188G>A (p.Arg396=) http://identifiers.org/clinvar/321171 ^@ NM_000512.4(GALNS):c.*610G>T http://identifiers.org/clinvar/330529 ^@ NM_006702.4(PNPLA6):c.2499C>A (p.Asp833Glu) http://identifiers.org/clinvar/321172 ^@ NM_000512.4(GALNS):c.*573A>G http://identifiers.org/clinvar/321176 ^@ NM_000512.4(GALNS):c.*367T>C http://identifiers.org/clinvar/330532 ^@ NM_006702.4(PNPLA6):c.2844A>G (p.Val948=) http://identifiers.org/clinvar/323280 ^@ NM_012232.5(CAVIN1):c.-50C>T http://identifiers.org/clinvar/323286 ^@ NM_000263.3(NAGLU):c.-200G>C http://identifiers.org/clinvar/321180 ^@ NM_000512.4(GALNS):c.*236C>T http://identifiers.org/clinvar/321186 ^@ NM_000512.4(GALNS):c.*20C>G http://identifiers.org/clinvar/323288 ^@ NM_000263.3(NAGLU):c.-144G>A http://identifiers.org/clinvar/330542 ^@ NM_006702.4(PNPLA6):c.*105C>T http://identifiers.org/clinvar/330544 ^@ NM_006949.3(STXBP2):c.14G>A (p.Gly5Glu) http://identifiers.org/clinvar/321193 ^@ NM_000512.4(GALNS):c.1242+3A>G http://identifiers.org/clinvar/323289 ^@ NM_000263.3(NAGLU):c.-138A>G http://identifiers.org/clinvar/321194 ^@ NM_000512.4(GALNS):c.1186G>A (p.Gly396Arg) http://identifiers.org/clinvar/323290 ^@ NM_000263.3(NAGLU):c.-82T>C http://identifiers.org/clinvar/330545 ^@ NM_006949.3(STXBP2):c.145G>C (p.Asp49His) http://identifiers.org/clinvar/330546 ^@ NM_006949.3(STXBP2):c.270C>T (p.Asp90=) http://identifiers.org/clinvar/330548 ^@ NM_006949.3(STXBP2):c.333C>T (p.Pro111=) http://identifiers.org/clinvar/321196 ^@ NM_000512.4(GALNS):c.1008C>T (p.Ser336=) http://identifiers.org/clinvar/321197 ^@ NM_000512.4(GALNS):c.1003-10T>C http://identifiers.org/clinvar/323295 ^@ NM_000263.3(NAGLU):c.675G>T (p.Leu225=) http://identifiers.org/clinvar/323310 ^@ NM_032387.4(WNK4):c.16G>A (p.Ala6Thr) http://identifiers.org/clinvar/330559 ^@ NM_006949.3(STXBP2):c.1586G>C (p.Arg529Pro) http://identifiers.org/clinvar/323312 ^@ NM_032387.4(WNK4):c.239C>A (p.Ala80Asp) http://identifiers.org/clinvar/330566 ^@ NM_030957.3(ADAMTS10):c.*456dupG http://identifiers.org/clinvar/321200 ^@ NM_000512.4(GALNS):c.850T>G (p.Phe284Val) http://identifiers.org/clinvar/330568 ^@ NM_030957.3(ADAMTS10):c.*449G>C http://identifiers.org/clinvar/323313 ^@ NM_032387.4(WNK4):c.507C>A (p.Pro169=) http://identifiers.org/clinvar/321213 ^@ NM_000512.4(GALNS):c.-54G>A http://identifiers.org/clinvar/323316 ^@ NM_032387.4(WNK4):c.945C>T (p.Gly315=) http://identifiers.org/clinvar/321283 ^@ NM_003119.3(SPG7):c.1564G>A (p.Ala522Thr) http://identifiers.org/clinvar/321284 ^@ NM_003119.3(SPG7):c.1639T>G (p.Tyr547Asp) http://identifiers.org/clinvar/321289 ^@ NM_003119.3(SPG7):c.*11T>A http://identifiers.org/clinvar/323323 ^@ NM_032387.4(WNK4):c.1641C>T (p.Ala547=) http://identifiers.org/clinvar/321292 ^@ NM_003119.3(SPG7):c.*140G>T http://identifiers.org/clinvar/323327 ^@ NM_032387.4(WNK4):c.1801G>T (p.Ala601Ser) http://identifiers.org/clinvar/323330 ^@ NM_032387.4(WNK4):c.1853G>T (p.Cys618Phe) http://identifiers.org/clinvar/330571 ^@ NM_030957.3(ADAMTS10):c.*322C>T http://identifiers.org/clinvar/330577 ^@ NM_030957.3(ADAMTS10):c.3202+13C>T http://identifiers.org/clinvar/323335 ^@ NM_032387.4(WNK4):c.2005C>T (p.Arg669Trp) http://identifiers.org/clinvar/323336 ^@ NM_032387.4(WNK4):c.2207G>A (p.Arg736Gln) http://identifiers.org/clinvar/321293 ^@ NM_003119.3(SPG7):c.*195C>T http://identifiers.org/clinvar/330578 ^@ NM_030957.3(ADAMTS10):c.3159T>C (p.Cys1053=) http://identifiers.org/clinvar/321295 ^@ NM_003119.3(SPG7):c.*398G>A http://identifiers.org/clinvar/330580 ^@ NM_030957.3(ADAMTS10):c.3043-12_3043-6dupGCCCCCT http://identifiers.org/clinvar/321296 ^@ NM_003119.3(SPG7):c.*432G>A http://identifiers.org/clinvar/321299 ^@ NM_003119.3(SPG7):c.*587G>A http://identifiers.org/clinvar/321302 ^@ NM_000135.2(FANCA):c.*1012A>G http://identifiers.org/clinvar/321306 ^@ NM_000135.2(FANCA):c.*851G>A http://identifiers.org/clinvar/321312 ^@ NM_000135.2(FANCA):c.*673A>G http://identifiers.org/clinvar/321315 ^@ NM_000135.2(FANCA):c.*521C>T http://identifiers.org/clinvar/323337 ^@ NM_032387.4(WNK4):c.2213G>A (p.Arg738Gln) http://identifiers.org/clinvar/330581 ^@ NM_030957.3(ADAMTS10):c.3043-8C>T http://identifiers.org/clinvar/330584 ^@ NM_030957.3(ADAMTS10):c.2433C>T (p.Leu811=) http://identifiers.org/clinvar/321318 ^@ NM_000135.2(FANCA):c.*317G>A http://identifiers.org/clinvar/321320 ^@ NM_000135.2(FANCA):c.*286C>T http://identifiers.org/clinvar/330586 ^@ NM_030957.3(ADAMTS10):c.2409G>C (p.Leu803=) http://identifiers.org/clinvar/330588 ^@ NM_030957.3(ADAMTS10):c.2261C>T (p.Ser754Phe) http://identifiers.org/clinvar/323338 ^@ NM_032387.4(WNK4):c.2334C>T (p.Leu778=) http://identifiers.org/clinvar/321322 ^@ NM_000135.2(FANCA):c.*166G>A http://identifiers.org/clinvar/330591 ^@ NM_030957.3(ADAMTS10):c.2125G>A (p.Glu709Lys) http://identifiers.org/clinvar/330598 ^@ NM_030957.3(ADAMTS10):c.1880A>C (p.Lys627Thr) http://identifiers.org/clinvar/323341 ^@ NM_032387.4(WNK4):c.2588T>G (p.Leu863Arg) http://identifiers.org/clinvar/330601 ^@ NM_030957.3(ADAMTS10):c.1588-7C>G http://identifiers.org/clinvar/323344 ^@ NM_032387.4(WNK4):c.2823G>A (p.Leu941=) http://identifiers.org/clinvar/323347 ^@ NM_032387.4(WNK4):c.2881C>T (p.Pro961Ser) http://identifiers.org/clinvar/321323 ^@ NM_000135.2(FANCA):c.*154G>A http://identifiers.org/clinvar/321331 ^@ NM_000135.2(FANCA):c.3901T>A (p.Ser1301Thr) http://identifiers.org/clinvar/330602 ^@ NM_030957.3(ADAMTS10):c.1569G>A (p.Thr523=) http://identifiers.org/clinvar/330603 ^@ NM_030957.3(ADAMTS10):c.1568C>T (p.Thr523Met) http://identifiers.org/clinvar/330605 ^@ NM_030957.3(ADAMTS10):c.1350G>T (p.Gly450=) http://identifiers.org/clinvar/321332 ^@ NM_000135.2(FANCA):c.3825A>G (p.Ser1275=) http://identifiers.org/clinvar/323351 ^@ NM_032387.4(WNK4):c.3251T>C (p.Val1084Ala) http://identifiers.org/clinvar/330610 ^@ NM_030957.3(ADAMTS10):c.401G= (p.Ser134=) http://identifiers.org/clinvar/323356 ^@ NM_032387.4(WNK4):c.*6G>A http://identifiers.org/clinvar/323360 ^@ NM_000151.3(G6PC):c.326G>A (p.Cys109Tyr) http://identifiers.org/clinvar/321333 ^@ NM_000135.2(FANCA):c.3766-14G>A http://identifiers.org/clinvar/321335 ^@ NM_000135.2(FANCA):c.3551G>C (p.Arg1184Pro) http://identifiers.org/clinvar/330612 ^@ NM_030957.3(ADAMTS10):c.303C>T (p.His101=) http://identifiers.org/clinvar/321336 ^@ NM_000135.2(FANCA):c.3531G>A (p.Leu1177=) http://identifiers.org/clinvar/330613 ^@ NM_030957.3(ADAMTS10):c.185G>A (p.Arg62Gln) http://identifiers.org/clinvar/321338 ^@ NM_000135.2(FANCA):c.3352A>G (p.Asn1118Asp) http://identifiers.org/clinvar/321344 ^@ NM_000135.2(FANCA):c.2778+10C>T http://identifiers.org/clinvar/321346 ^@ NM_000135.2(FANCA):c.2570G>A (p.Cys857Tyr) http://identifiers.org/clinvar/323362 ^@ NM_000151.3(G6PC):c.638C>T (p.Thr213Ile) http://identifiers.org/clinvar/323363 ^@ NM_000151.3(G6PC):c.922G>A (p.Val308Ile) http://identifiers.org/clinvar/323370 ^@ NM_000151.3(G6PC):c.*492A>C http://identifiers.org/clinvar/323381 ^@ NM_000151.3(G6PC):c.*1210C>G http://identifiers.org/clinvar/321350 ^@ NM_000135.2(FANCA):c.2203A>G (p.Ser735Gly) http://identifiers.org/clinvar/321354 ^@ NM_000135.2(FANCA):c.1777-15C>G http://identifiers.org/clinvar/321356 ^@ NM_000135.2(FANCA):c.1675G>A (p.Glu559Lys) http://identifiers.org/clinvar/328162 ^@ NM_002743.3(PRKCSH):c.-297_-294delCTCT http://identifiers.org/clinvar/323383 ^@ NM_000151.3(G6PC):c.*1294C>A http://identifiers.org/clinvar/323386 ^@ NM_000151.3(G6PC):c.*1324C>T http://identifiers.org/clinvar/321357 ^@ NM_000135.2(FANCA):c.1567-11C>A http://identifiers.org/clinvar/328163 ^@ NM_002743.3(PRKCSH):c.-193G>A http://identifiers.org/clinvar/323389 ^@ NM_000151.3(G6PC):c.*1553_*1560delTTTTAGAA http://identifiers.org/clinvar/321361 ^@ NM_000135.2(FANCA):c.1328C>G (p.Ser443Cys) http://identifiers.org/clinvar/321367 ^@ NM_000135.2(FANCA):c.601C>T (p.Pro201Ser) http://identifiers.org/clinvar/328165 ^@ NM_002743.3(PRKCSH):c.-143G>A http://identifiers.org/clinvar/323392 ^@ NM_000151.3(G6PC):c.*1970A>G http://identifiers.org/clinvar/321371 ^@ NM_000135.2(FANCA):c.356C>G (p.Ser119Cys) http://identifiers.org/clinvar/323393 ^@ NM_000151.3(G6PC):c.*1981C>T http://identifiers.org/clinvar/321377 ^@ NM_000135.2(FANCA):c.-28C>G http://identifiers.org/clinvar/337685 ^@ NM_018848.3(MKKS):c.*435G>A http://identifiers.org/clinvar/337686 ^@ NM_018848.3(MKKS):c.*392T>C http://identifiers.org/clinvar/321384 ^@ NM_002386.3(MC1R):c.-1235A>T http://identifiers.org/clinvar/321385 ^@ NM_002386.3(MC1R):c.-1234C>T http://identifiers.org/clinvar/323394 ^@ NM_000151.3(G6PC):c.*1986T>C http://identifiers.org/clinvar/323396 ^@ NM_000151.3(G6PC):c.*2095T>A http://identifiers.org/clinvar/337688 ^@ NM_018848.3(MKKS):c.1702G>C (p.Asp568His) http://identifiers.org/clinvar/323400 ^@ NM_000151.3(G6PC):c.*2501C>G http://identifiers.org/clinvar/323414 ^@ NM_007294.3(BRCA1):c.*750A>G http://identifiers.org/clinvar/323418 ^@ NM_007294.3(BRCA1):c.*465G>A http://identifiers.org/clinvar/337696 ^@ NM_018848.3(MKKS):c.-39A>C http://identifiers.org/clinvar/323420 ^@ NM_007294.3(BRCA1):c.5467+14A>G http://identifiers.org/clinvar/337700 ^@ NM_018848.3(MKKS):c.-349A>G http://identifiers.org/clinvar/321391 ^@ NM_002386.3(MC1R):c.-1000G>C http://identifiers.org/clinvar/323426 ^@ NM_025237.2(SOST):c.*1425T>G http://identifiers.org/clinvar/321392 ^@ NM_002386.3(MC1R):c.-988A>C http://identifiers.org/clinvar/321397 ^@ NM_002386.3(MC1R):c.-600C>T http://identifiers.org/clinvar/321398 ^@ NM_002386.3(MC1R):c.-550G>A http://identifiers.org/clinvar/323432 ^@ NM_025237.2(SOST):c.*1004G>A http://identifiers.org/clinvar/321402 ^@ NM_002386.3(MC1R):c.-490C>T http://identifiers.org/clinvar/337713 ^@ NM_018848.3(MKKS):c.-871_-869dupTTG http://identifiers.org/clinvar/337715 ^@ NM_000214.2(JAG1):c.*1572A>G http://identifiers.org/clinvar/321403 ^@ NM_002386.3(MC1R):c.-465C>G http://identifiers.org/clinvar/323433 ^@ NM_025237.2(SOST):c.*866C>T http://identifiers.org/clinvar/323435 ^@ NM_025237.2(SOST):c.*314C>G http://identifiers.org/clinvar/321408 ^@ NM_002386.3(MC1R):c.-323G>A http://identifiers.org/clinvar/321410 ^@ NM_002386.3(MC1R):c.-273G>C http://identifiers.org/clinvar/323442 ^@ NM_025237.2(SOST):c.28G>A (p.Val10Ile) http://identifiers.org/clinvar/323443 ^@ NM_153006.2(NAGS):c.116C>T (p.Ala39Val) http://identifiers.org/clinvar/321413 ^@ NM_002386.3(MC1R):c.-110A>C http://identifiers.org/clinvar/321415 ^@ NM_002386.3(MC1R):c.-98C>G http://identifiers.org/clinvar/323444 ^@ NM_153006.2(NAGS):c.681C>G (p.Ala227=) http://identifiers.org/clinvar/321419 ^@ NM_002386.3(MC1R):c.169G>A (p.Ala57Thr) http://identifiers.org/clinvar/323445 ^@ NM_153006.2(NAGS):c.807C>T (p.Ser269=) http://identifiers.org/clinvar/337717 ^@ NM_000214.2(JAG1):c.*1511dupT http://identifiers.org/clinvar/321420 ^@ NM_002386.3(MC1R):c.189C>T (p.Ile63=) http://identifiers.org/clinvar/337719 ^@ NM_000214.2(JAG1):c.*1224G>A http://identifiers.org/clinvar/337723 ^@ NM_000214.2(JAG1):c.*1132T>G http://identifiers.org/clinvar/337725 ^@ NM_000214.2(JAG1):c.*1084G>C http://identifiers.org/clinvar/337731 ^@ NM_000214.2(JAG1):c.*647_*649delAAT http://identifiers.org/clinvar/321424 ^@ NM_002386.3(MC1R):c.309C>T (p.Ala103=) http://identifiers.org/clinvar/323452 ^@ NM_153006.2(NAGS):c.*211C>T http://identifiers.org/clinvar/337733 ^@ NM_000214.2(JAG1):c.*619C>T http://identifiers.org/clinvar/321431 ^@ NM_002386.3(MC1R):c.555C>T (p.His185=) http://identifiers.org/clinvar/323453 ^@ NM_138387.3(G6PC3):c.-231A>G http://identifiers.org/clinvar/323455 ^@ NM_138387.3(G6PC3):c.-191T>G http://identifiers.org/clinvar/321436 ^@ NM_002386.3(MC1R):c.651C>T (p.His217=) http://identifiers.org/clinvar/321442 ^@ NM_002386.3(MC1R):c.948C>T (p.Ser316=) http://identifiers.org/clinvar/323457 ^@ NM_138387.3(G6PC3):c.-162G>A http://identifiers.org/clinvar/321444 ^@ NM_002386.3(MC1R):c.*140A>G http://identifiers.org/clinvar/337734 ^@ NM_000214.2(JAG1):c.*563_*565delAAA http://identifiers.org/clinvar/337735 ^@ NM_000214.2(JAG1):c.*486delT http://identifiers.org/clinvar/321448 ^@ NM_002386.3(MC1R):c.*310C>G http://identifiers.org/clinvar/337736 ^@ NM_000214.2(JAG1):c.*401C>T http://identifiers.org/clinvar/321455 ^@ NM_002386.3(MC1R):c.*598T>C http://identifiers.org/clinvar/337737 ^@ NM_000214.2(JAG1):c.*398T>C http://identifiers.org/clinvar/323459 ^@ NM_138387.3(G6PC3):c.-129C>T http://identifiers.org/clinvar/337739 ^@ NM_000214.2(JAG1):c.*297C>T http://identifiers.org/clinvar/337744 ^@ NM_000214.2(JAG1):c.3555C>T (p.Pro1185=) http://identifiers.org/clinvar/321457 ^@ NM_002386.3(MC1R):c.*696G>C http://identifiers.org/clinvar/323461 ^@ NM_138387.3(G6PC3):c.201C>T (p.Leu67=) http://identifiers.org/clinvar/323462 ^@ NM_138387.3(G6PC3):c.219-13T>C http://identifiers.org/clinvar/321458 ^@ NM_000833.4(GRIN2A):c.*9692A>G http://identifiers.org/clinvar/323466 ^@ NM_138387.3(G6PC3):c.416+5A>G http://identifiers.org/clinvar/323468 ^@ NM_138387.3(G6PC3):c.668A>C (p.Asp223Ala) http://identifiers.org/clinvar/321469 ^@ NM_000833.4(GRIN2A):c.*8542T>C http://identifiers.org/clinvar/337759 ^@ NM_000214.2(JAG1):c.388-4G>C http://identifiers.org/clinvar/337765 ^@ NM_000214.2(JAG1):c.-105C>G http://identifiers.org/clinvar/323470 ^@ NM_138387.3(G6PC3):c.815A>G (p.Gln272Arg) http://identifiers.org/clinvar/323477 ^@ NM_000342.3(SLC4A1):c.*1608dupA http://identifiers.org/clinvar/337780 ^@ NM_006363.4(SEC23B):c.-283C>T http://identifiers.org/clinvar/323481 ^@ NM_000342.3(SLC4A1):c.*1568G>A http://identifiers.org/clinvar/337786 ^@ NM_006363.4(SEC23B):c.-57G>C http://identifiers.org/clinvar/323484 ^@ NM_000342.3(SLC4A1):c.*1273G>T http://identifiers.org/clinvar/337789 ^@ NM_006363.4(SEC23B):c.-8T>C http://identifiers.org/clinvar/323490 ^@ NM_000342.3(SLC4A1):c.*947C>G http://identifiers.org/clinvar/337791 ^@ NM_006363.4(SEC23B):c.301A>G (p.Ile101Val) http://identifiers.org/clinvar/323492 ^@ NM_000342.3(SLC4A1):c.*872G>C http://identifiers.org/clinvar/337794 ^@ NM_006363.4(SEC23B):c.1299G>A (p.Pro433=) http://identifiers.org/clinvar/321473 ^@ NM_000833.4(GRIN2A):c.*8396T>C http://identifiers.org/clinvar/337795 ^@ NM_006363.4(SEC23B):c.1335G>A (p.Thr445=) http://identifiers.org/clinvar/321479 ^@ NM_000833.4(GRIN2A):c.*7897C>T http://identifiers.org/clinvar/321484 ^@ NM_000833.4(GRIN2A):c.*7349C>T http://identifiers.org/clinvar/337807 ^@ NM_024411.4(PDYN):c.*1443G>A http://identifiers.org/clinvar/323497 ^@ NM_000342.3(SLC4A1):c.*335G>A http://identifiers.org/clinvar/323498 ^@ NM_000342.3(SLC4A1):c.*333C>A http://identifiers.org/clinvar/321485 ^@ NM_000833.4(GRIN2A):c.*7324G>A http://identifiers.org/clinvar/323501 ^@ NM_000342.3(SLC4A1):c.2630T>C (p.Ile877Thr) http://identifiers.org/clinvar/323505 ^@ NM_000342.3(SLC4A1):c.2208C>T (p.Asn736=) http://identifiers.org/clinvar/323508 ^@ NM_000342.3(SLC4A1):c.1431+15G>T http://identifiers.org/clinvar/337814 ^@ NM_024411.4(PDYN):c.*1030C>T http://identifiers.org/clinvar/323512 ^@ NM_000342.3(SLC4A1):c.884G>A (p.Arg295His) http://identifiers.org/clinvar/323513 ^@ NM_000342.3(SLC4A1):c.876+14G>A http://identifiers.org/clinvar/337817 ^@ NM_024411.4(PDYN):c.*836C>G http://identifiers.org/clinvar/337819 ^@ NM_024411.4(PDYN):c.*771T>C http://identifiers.org/clinvar/323514 ^@ NM_000342.3(SLC4A1):c.697C>G (p.Arg233Gly) http://identifiers.org/clinvar/321490 ^@ NM_000833.4(GRIN2A):c.*7112A>T http://identifiers.org/clinvar/321493 ^@ NM_000833.4(GRIN2A):c.*6986A>G http://identifiers.org/clinvar/337822 ^@ NM_024411.4(PDYN):c.*656T>C http://identifiers.org/clinvar/323519 ^@ NM_000342.3(SLC4A1):c.202G>A (p.Glu68Lys) http://identifiers.org/clinvar/323531 ^@ NM_002087.3(GRN):c.100C>G (p.Pro34Ala) http://identifiers.org/clinvar/337823 ^@ NM_024411.4(PDYN):c.*561C>T http://identifiers.org/clinvar/321498 ^@ NM_000833.4(GRIN2A):c.*6760G>A http://identifiers.org/clinvar/321502 ^@ NM_000833.4(GRIN2A):c.*6601G>C http://identifiers.org/clinvar/323533 ^@ NM_002087.3(GRN):c.497C>T (p.Pro166Leu) http://identifiers.org/clinvar/323534 ^@ NM_002087.3(GRN):c.1123_1125delTCC (p.Ser375del) http://identifiers.org/clinvar/323537 ^@ NM_002087.3(GRN):c.1641C>T (p.Arg547=) http://identifiers.org/clinvar/337828 ^@ NM_024411.4(PDYN):c.*356T>C http://identifiers.org/clinvar/323538 ^@ NM_002087.3(GRN):c.1647C>T (p.Gly549=) http://identifiers.org/clinvar/337830 ^@ NM_024411.4(PDYN):c.*261C>T http://identifiers.org/clinvar/323546 ^@ NM_000419.4(ITGA2B):c.2363C>A (p.Ala788Asp) http://identifiers.org/clinvar/337838 ^@ NM_024411.4(PDYN):c.483C>G (p.Leu161=) http://identifiers.org/clinvar/323555 ^@ NM_000419.4(ITGA2B):c.1545-10G>A http://identifiers.org/clinvar/323557 ^@ NM_000419.4(ITGA2B):c.1394-14C>T http://identifiers.org/clinvar/321504 ^@ NM_000833.4(GRIN2A):c.*6597G>A http://identifiers.org/clinvar/321505 ^@ NM_000833.4(GRIN2A):c.*6596C>T http://identifiers.org/clinvar/337840 ^@ NM_024411.4(PDYN):c.405C>T (p.Asp135=) http://identifiers.org/clinvar/337845 ^@ NM_024411.4(PDYN):c.-358G>A http://identifiers.org/clinvar/321506 ^@ NM_000833.4(GRIN2A):c.*6545C>A http://identifiers.org/clinvar/337848 ^@ NM_024411.4(PDYN):c.-402C>G http://identifiers.org/clinvar/323560 ^@ NM_000419.4(ITGA2B):c.945+10A>G http://identifiers.org/clinvar/321511 ^@ NM_000833.4(GRIN2A):c.*6323C>T http://identifiers.org/clinvar/321515 ^@ NM_000833.4(GRIN2A):c.*6128A>G http://identifiers.org/clinvar/323566 ^@ NM_000419.4(ITGA2B):c.628G>C (p.Gly210Arg) http://identifiers.org/clinvar/321526 ^@ NM_000833.4(GRIN2A):c.*5733C>T http://identifiers.org/clinvar/337849 ^@ NM_000361.2(THBD):c.*2143C>T http://identifiers.org/clinvar/321529 ^@ NM_000833.4(GRIN2A):c.*5471T>C http://identifiers.org/clinvar/337856 ^@ NM_000361.2(THBD):c.*1562G>T http://identifiers.org/clinvar/337858 ^@ NM_000361.2(THBD):c.*1315C>T http://identifiers.org/clinvar/321535 ^@ NM_000833.4(GRIN2A):c.*5109G>C http://identifiers.org/clinvar/321536 ^@ NM_000833.4(GRIN2A):c.*5076G>C http://identifiers.org/clinvar/337862 ^@ NM_000361.2(THBD):c.*1001A>C http://identifiers.org/clinvar/323567 ^@ NM_000419.4(ITGA2B):c.626C>T (p.Ala209Val) http://identifiers.org/clinvar/323570 ^@ NM_000419.4(ITGA2B):c.487T>C (p.Leu163=) http://identifiers.org/clinvar/321538 ^@ NM_000833.4(GRIN2A):c.*5006G>A http://identifiers.org/clinvar/321541 ^@ NM_000833.4(GRIN2A):c.*4304T>C http://identifiers.org/clinvar/337863 ^@ NM_000361.2(THBD):c.*943dupT http://identifiers.org/clinvar/323574 ^@ NM_000419.4(ITGA2B):c.188+7C>T http://identifiers.org/clinvar/337873 ^@ NM_000361.2(THBD):c.*325T>C http://identifiers.org/clinvar/323578 ^@ NM_213607.2(CCDC103):c.-113G>A http://identifiers.org/clinvar/321542 ^@ NM_000833.4(GRIN2A):c.*4281A>G http://identifiers.org/clinvar/323579 ^@ NM_213607.2(CCDC103):c.-74G>C http://identifiers.org/clinvar/323580 ^@ NM_213607.2(CCDC103):c.-45G>A http://identifiers.org/clinvar/337876 ^@ NM_000361.2(THBD):c.*158G>A http://identifiers.org/clinvar/323584 ^@ NM_213607.2(CCDC103):c.606C>A (p.Gly202=) http://identifiers.org/clinvar/337878 ^@ NM_000361.2(THBD):c.*47C>T http://identifiers.org/clinvar/321548 ^@ NM_000833.4(GRIN2A):c.*3589G>A http://identifiers.org/clinvar/337881 ^@ NM_000361.2(THBD):c.1528G>A (p.Val510Met) http://identifiers.org/clinvar/337887 ^@ NM_000361.2(THBD):c.1029A>G (p.Thr343=) http://identifiers.org/clinvar/337896 ^@ NM_000361.2(THBD):c.-38G>A http://identifiers.org/clinvar/337913 ^@ NM_198994.2(TGM6):c.835G>A (p.Gly279Arg) http://identifiers.org/clinvar/323585 ^@ NM_213607.2(CCDC103):c.627G>A (p.Glu209=) http://identifiers.org/clinvar/321555 ^@ NM_000833.4(GRIN2A):c.*3166C>T http://identifiers.org/clinvar/337914 ^@ NM_198994.2(TGM6):c.850+12G>A http://identifiers.org/clinvar/337919 ^@ NM_198994.2(TGM6):c.1040C>T (p.Pro347Leu) http://identifiers.org/clinvar/337920 ^@ NM_198994.2(TGM6):c.1093+5G>A http://identifiers.org/clinvar/337922 ^@ NM_198994.2(TGM6):c.1126G>A (p.Ala376Thr) http://identifiers.org/clinvar/323588 ^@ NM_213607.2(CCDC103):c.*733C>T http://identifiers.org/clinvar/323593 ^@ NM_213607.2(CCDC103):c.*821G>A http://identifiers.org/clinvar/321564 ^@ NM_000833.4(GRIN2A):c.*2622A>T http://identifiers.org/clinvar/323598 ^@ NM_002055.4(GFAP):c.*1276C>T http://identifiers.org/clinvar/323600 ^@ NM_002055.4(GFAP):c.*1014G>A http://identifiers.org/clinvar/337925 ^@ NM_198994.2(TGM6):c.1235G>A (p.Arg412His) http://identifiers.org/clinvar/337930 ^@ NM_198994.2(TGM6):c.1523G>A (p.Gly508Asp) http://identifiers.org/clinvar/321566 ^@ NM_000833.4(GRIN2A):c.*2556C>T http://identifiers.org/clinvar/337931 ^@ NM_198994.2(TGM6):c.1580T>A (p.Val527Glu) http://identifiers.org/clinvar/321569 ^@ NM_000833.4(GRIN2A):c.*2396G>A http://identifiers.org/clinvar/321581 ^@ NM_000833.4(GRIN2A):c.*1432delT http://identifiers.org/clinvar/323602 ^@ NM_002055.4(GFAP):c.*742C>T http://identifiers.org/clinvar/321587 ^@ NM_000833.4(GRIN2A):c.*722G>A http://identifiers.org/clinvar/337946 ^@ NM_014588.5(VSX1):c.*744C>A http://identifiers.org/clinvar/337950 ^@ NM_014588.5(VSX1):c.*223G>A http://identifiers.org/clinvar/321590 ^@ NM_000833.4(GRIN2A):c.*574C>A http://identifiers.org/clinvar/337955 ^@ NM_014588.5(VSX1):c.*88C>G http://identifiers.org/clinvar/337958 ^@ NM_014588.5(VSX1):c.740C>G (p.Pro247Arg) http://identifiers.org/clinvar/337961 ^@ NM_014588.5(VSX1):c.497G>A (p.Arg166Gln) http://identifiers.org/clinvar/323603 ^@ NM_002055.4(GFAP):c.*630G>A http://identifiers.org/clinvar/323612 ^@ NM_002055.4(GFAP):c.947G>A (p.Arg316Gln) http://identifiers.org/clinvar/321595 ^@ NM_000833.4(GRIN2A):c.*286A>G http://identifiers.org/clinvar/323617 ^@ NM_002055.4(GFAP):c.619-9C>G http://identifiers.org/clinvar/321607 ^@ NM_000833.4(GRIN2A):c.3064C>T (p.Arg1022Cys) http://identifiers.org/clinvar/321618 ^@ NM_000833.4(GRIN2A):c.1119A>G (p.Glu373=) http://identifiers.org/clinvar/323620 ^@ NM_002055.4(GFAP):c.462-8dupC http://identifiers.org/clinvar/317664 ^@ NM_000833.4(GRIN2A):c.979C>G (p.Pro327Ala) http://identifiers.org/clinvar/323623 ^@ NM_002055.4(GFAP):c.352G>C (p.Ala118Pro) http://identifiers.org/clinvar/323625 ^@ NM_002055.4(GFAP):c.329C>G (p.Thr110Ser) http://identifiers.org/clinvar/321622 ^@ NM_002472.2(MYH8):c.5539G>A (p.Glu1847Lys) http://identifiers.org/clinvar/321623 ^@ NM_002472.2(MYH8):c.5435A>G (p.Lys1812Arg) http://identifiers.org/clinvar/337962 ^@ NM_014588.5(VSX1):c.479G>T (p.Gly160Val) http://identifiers.org/clinvar/337966 ^@ NM_014588.5(VSX1):c.339C>T (p.Gly113=) http://identifiers.org/clinvar/323627 ^@ NM_002055.4(GFAP):c.179C>A (p.Ala60Asp) http://identifiers.org/clinvar/323636 ^@ NM_005910.5(MAPT):c.-177G>C http://identifiers.org/clinvar/337972 ^@ NM_014588.5(VSX1):c.-61C>G http://identifiers.org/clinvar/337973 ^@ NM_014588.5(VSX1):c.-175C>G http://identifiers.org/clinvar/323641 ^@ NM_005910.5(MAPT):c.-26G>T http://identifiers.org/clinvar/337982 ^@ NM_001042472.2(ABHD12):c.*377C>T http://identifiers.org/clinvar/321635 ^@ NM_002472.2(MYH8):c.3550G>A (p.Ala1184Thr) http://identifiers.org/clinvar/337985 ^@ NM_001042472.2(ABHD12):c.*321G>T http://identifiers.org/clinvar/321636 ^@ NM_002472.2(MYH8):c.3388G>T (p.Ala1130Ser) http://identifiers.org/clinvar/337986 ^@ NM_001042472.2(ABHD12):c.*297C>G http://identifiers.org/clinvar/321643 ^@ NM_002472.2(MYH8):c.2117G>A (p.Arg706His) http://identifiers.org/clinvar/323642 ^@ NM_005910.5(MAPT):c.231A>G (p.Ala77=) http://identifiers.org/clinvar/323643 ^@ NM_005910.5(MAPT):c.307+12C>G http://identifiers.org/clinvar/321664 ^@ NM_017534.5(MYH2):c.5025A>C (p.Glu1675Asp) http://identifiers.org/clinvar/337991 ^@ NM_001042472.2(ABHD12):c.858A>C (p.Pro286=) http://identifiers.org/clinvar/337998 ^@ NM_001042472.2(ABHD12):c.202G>A (p.Val68Met) http://identifiers.org/clinvar/321665 ^@ NM_017534.5(MYH2):c.4697G>A (p.Arg1566His) http://identifiers.org/clinvar/323644 ^@ NM_005910.5(MAPT):c.308C>G (p.Ala103Gly) http://identifiers.org/clinvar/338000 ^@ NM_001042472.2(ABHD12):c.-44C>G http://identifiers.org/clinvar/321672 ^@ NM_017534.5(MYH2):c.3709C>T (p.Leu1237Phe) http://identifiers.org/clinvar/323650 ^@ NM_005910.5(MAPT):c.*26T>C http://identifiers.org/clinvar/338001 ^@ NM_001042472.2(ABHD12):c.-82_-76delTCTGGGT http://identifiers.org/clinvar/323652 ^@ NM_005910.5(MAPT):c.*68_*70delAAT http://identifiers.org/clinvar/323654 ^@ NM_005910.5(MAPT):c.*241dupT http://identifiers.org/clinvar/321675 ^@ NM_017534.5(MYH2):c.3358C>T (p.Arg1120Cys) http://identifiers.org/clinvar/321688 ^@ NM_017534.5(MYH2):c.1711G>A (p.Val571Met) http://identifiers.org/clinvar/338005 ^@ NM_001042472.2(ABHD12):c.-221G>A http://identifiers.org/clinvar/321694 ^@ NM_017534.5(MYH2):c.688C>T (p.Leu230=) http://identifiers.org/clinvar/321696 ^@ NM_017534.5(MYH2):c.495C>A (p.Phe165Leu) http://identifiers.org/clinvar/323659 ^@ NM_005910.5(MAPT):c.*453T>G http://identifiers.org/clinvar/323663 ^@ NM_005910.5(MAPT):c.*732C>A http://identifiers.org/clinvar/323665 ^@ NM_005910.5(MAPT):c.*909_*910dupCT http://identifiers.org/clinvar/321705 ^@ NM_017534.5(MYH2):c.-126A>G http://identifiers.org/clinvar/321706 ^@ NM_002470.3(MYH3):c.*39G>A http://identifiers.org/clinvar/323672 ^@ NM_001123066.3(MAPT):c.*1145_*1146insT http://identifiers.org/clinvar/321710 ^@ NM_002470.3(MYH3):c.5669C>G (p.Ala1890Gly) http://identifiers.org/clinvar/338007 ^@ NM_006899.4(IDH3B):c.*253T>C http://identifiers.org/clinvar/323674 ^@ NM_005910.5(MAPT):c.*1208_*1209delAC http://identifiers.org/clinvar/321716 ^@ NM_002470.3(MYH3):c.5331C>T (p.Ser1777=) http://identifiers.org/clinvar/321725 ^@ NM_002470.3(MYH3):c.4323C>T (p.Ala1441=) http://identifiers.org/clinvar/321728 ^@ NM_002470.3(MYH3):c.4109C>T (p.Ala1370Val) http://identifiers.org/clinvar/321755 ^@ NM_002470.3(MYH3):c.1872G>A (p.Thr624=) http://identifiers.org/clinvar/321757 ^@ NM_002470.3(MYH3):c.1703A>G (p.Lys568Arg) http://identifiers.org/clinvar/323684 ^@ NM_001123066.3(MAPT):c.*1759T>C http://identifiers.org/clinvar/321766 ^@ NM_002470.3(MYH3):c.800-5T>A http://identifiers.org/clinvar/338015 ^@ NM_006899.4(IDH3B):c.1047G>A (p.Val349=) http://identifiers.org/clinvar/323686 ^@ NM_005910.5(MAPT):c.*1892A>C http://identifiers.org/clinvar/321769 ^@ NM_002470.3(MYH3):c.459C>T (p.Pro153=) http://identifiers.org/clinvar/321770 ^@ NM_002470.3(MYH3):c.440A>G (p.Lys147Arg) http://identifiers.org/clinvar/338018 ^@ NM_006899.4(IDH3B):c.916G>T (p.Gly306Cys) http://identifiers.org/clinvar/321778 ^@ NM_002470.3(MYH3):c.-44T>C http://identifiers.org/clinvar/321779 ^@ NM_002470.3(MYH3):c.-63G>A http://identifiers.org/clinvar/323688 ^@ NM_005910.5(MAPT):c.*1910G>C http://identifiers.org/clinvar/338019 ^@ NM_006899.4(IDH3B):c.916-10C>T http://identifiers.org/clinvar/321780 ^@ NM_004589.3(SCO1):c.*722C>G http://identifiers.org/clinvar/321781 ^@ NM_004589.3(SCO1):c.*601delA http://identifiers.org/clinvar/321782 ^@ NM_004589.3(SCO1):c.*594A>G http://identifiers.org/clinvar/323690 ^@ NM_001123066.3(MAPT):c.*2079C>T http://identifiers.org/clinvar/321783 ^@ NM_004589.3(SCO1):c.*403A>G http://identifiers.org/clinvar/323693 ^@ NM_005910.5(MAPT):c.*2269G>T http://identifiers.org/clinvar/321784 ^@ NM_004589.3(SCO1):c.*349C>G http://identifiers.org/clinvar/323697 ^@ NM_005910.5(MAPT):c.*2390_*2391insT http://identifiers.org/clinvar/323698 ^@ NM_005910.5(MAPT):c.*2493G>A http://identifiers.org/clinvar/321785 ^@ NM_004589.3(SCO1):c.*320A= http://identifiers.org/clinvar/338023 ^@ NM_006899.4(IDH3B):c.522G>T (p.Leu174=) http://identifiers.org/clinvar/321787 ^@ NM_004589.3(SCO1):c.*285C>T http://identifiers.org/clinvar/321793 ^@ NM_004589.3(SCO1):c.673G>A (p.Val225Ile) http://identifiers.org/clinvar/338024 ^@ NM_006899.4(IDH3B):c.426A>G (p.Val142=) http://identifiers.org/clinvar/323700 ^@ NM_001123066.3(MAPT):c.*2616_*2618dupATC http://identifiers.org/clinvar/321795 ^@ NM_004589.3(SCO1):c.304T>G (p.Phe102Val) http://identifiers.org/clinvar/338028 ^@ NM_006899.4(IDH3B):c.118-3G>C http://identifiers.org/clinvar/338037 ^@ NM_032609.2(COX4I2):c.430C>G (p.Leu144Val) http://identifiers.org/clinvar/323702 ^@ NM_005910.5(MAPT):c.*2737G>C http://identifiers.org/clinvar/323705 ^@ NM_001123066.3(MAPT):c.*2810G>A http://identifiers.org/clinvar/338040 ^@ NM_033118.3(MYLK2):c.50C>A (p.Thr17Lys) http://identifiers.org/clinvar/338042 ^@ NM_033118.3(MYLK2):c.205C>T (p.Pro69Ser) http://identifiers.org/clinvar/321796 ^@ NM_004589.3(SCO1):c.273G>A (p.Gly91=) http://identifiers.org/clinvar/323713 ^@ NM_005910.5(MAPT):c.*3004T>C http://identifiers.org/clinvar/338047 ^@ NM_033118.3(MYLK2):c.1431C>T (p.Ser477=) http://identifiers.org/clinvar/323714 ^@ NM_005910.5(MAPT):c.*3043_*3045delCTT http://identifiers.org/clinvar/338048 ^@ NM_033118.3(MYLK2):c.1479C>T (p.Asn493=) http://identifiers.org/clinvar/323715 ^@ NM_001123066.3(MAPT):c.*3079dupG http://identifiers.org/clinvar/323716 ^@ NM_005910.5(MAPT):c.*3133A>G http://identifiers.org/clinvar/321809 ^@ NM_001303.3(COX10):c.-24G>A http://identifiers.org/clinvar/321813 ^@ NM_001303.3(COX10):c.192G>A (p.Leu64=) http://identifiers.org/clinvar/321816 ^@ NM_001303.3(COX10):c.909C>T (p.Ala303=) http://identifiers.org/clinvar/323717 ^@ NM_005910.5(MAPT):c.*3319T>C http://identifiers.org/clinvar/321821 ^@ NM_001303.3(COX10):c.*152T>A http://identifiers.org/clinvar/321827 ^@ NM_001303.3(COX10):c.*535C>A http://identifiers.org/clinvar/321828 ^@ NM_001303.3(COX10):c.*564dupG http://identifiers.org/clinvar/323727 ^@ NM_005910.5(MAPT):c.*3858A>G http://identifiers.org/clinvar/321829 ^@ NM_001303.3(COX10):c.*591_*592delAT http://identifiers.org/clinvar/338050 ^@ NM_033118.3(MYLK2):c.*86A>G http://identifiers.org/clinvar/321830 ^@ NM_001303.3(COX10):c.*628C>G http://identifiers.org/clinvar/338051 ^@ NM_033118.3(MYLK2):c.*241C>A http://identifiers.org/clinvar/338052 ^@ NM_033118.3(MYLK2):c.*287C>T http://identifiers.org/clinvar/321835 ^@ NM_001303.3(COX10):c.*823C>T http://identifiers.org/clinvar/323728 ^@ NM_005910.5(MAPT):c.*3872_*3874dupTCT http://identifiers.org/clinvar/323734 ^@ NM_001193466.1(KANSL1):c.*1433A>G http://identifiers.org/clinvar/321838 ^@ NM_001303.3(COX10):c.*1076T>C http://identifiers.org/clinvar/338054 ^@ NM_033118.3(MYLK2):c.*314G>T http://identifiers.org/clinvar/338055 ^@ NM_033118.3(MYLK2):c.*536C>T http://identifiers.org/clinvar/323735 ^@ NM_001193466.1(KANSL1):c.*1354dupA http://identifiers.org/clinvar/321841 ^@ NM_001303.3(COX10):c.*1324C>T http://identifiers.org/clinvar/338057 ^@ NM_033118.3(MYLK2):c.*569G>A http://identifiers.org/clinvar/323743 ^@ NM_001193466.1(KANSL1):c.*1196T>G http://identifiers.org/clinvar/338232 ^@ NM_032034.3(SLC4A11):c.2602A>G (p.Ile868Val) http://identifiers.org/clinvar/323750 ^@ NM_001193466.1(KANSL1):c.*816C>T http://identifiers.org/clinvar/323752 ^@ NM_015443.3(KANSL1):c.*640T>C http://identifiers.org/clinvar/338236 ^@ NM_032034.3(SLC4A11):c.2403C>T (p.Leu801=) http://identifiers.org/clinvar/323753 ^@ NM_001193466.1(KANSL1):c.*637T>G http://identifiers.org/clinvar/338237 ^@ NM_032034.3(SLC4A11):c.2274G>A (p.Ser758=) http://identifiers.org/clinvar/323763 ^@ NM_001193466.1(KANSL1):c.3091-15C>A http://identifiers.org/clinvar/338241 ^@ NM_032034.3(SLC4A11):c.2008A>G (p.Met670Val) http://identifiers.org/clinvar/323767 ^@ NM_001193466.1(KANSL1):c.2580T>C (p.Phe860=) http://identifiers.org/clinvar/323769 ^@ NM_001193466.1(KANSL1):c.2490A>G (p.Ser830=) http://identifiers.org/clinvar/321843 ^@ NM_001303.3(COX10):c.*1385C>T http://identifiers.org/clinvar/338244 ^@ NM_032034.3(SLC4A11):c.1716G>A (p.Ala572=) http://identifiers.org/clinvar/323773 ^@ NM_001193466.1(KANSL1):c.2256C>T (p.Asp752=) http://identifiers.org/clinvar/323774 ^@ NM_001193466.1(KANSL1):c.2152T>C (p.Ser718Pro) http://identifiers.org/clinvar/323777 ^@ NM_001193466.1(KANSL1):c.1940A>G (p.Glu647Gly) http://identifiers.org/clinvar/323778 ^@ NM_001193466.1(KANSL1):c.1831G>A (p.Val611Ile) http://identifiers.org/clinvar/321848 ^@ NM_000304.3(PMP22):c.*985C>T http://identifiers.org/clinvar/323789 ^@ NM_001193466.1(KANSL1):c.696C>T (p.Ser232=) http://identifiers.org/clinvar/338245 ^@ NM_032034.3(SLC4A11):c.1620C>T (p.Leu540=) http://identifiers.org/clinvar/323790 ^@ NM_001193466.1(KANSL1):c.673A>G (p.Asn225Asp) http://identifiers.org/clinvar/338255 ^@ NM_032034.3(SLC4A11):c.571+9G>A http://identifiers.org/clinvar/338257 ^@ NM_032034.3(SLC4A11):c.457C>T (p.Arg153Trp) http://identifiers.org/clinvar/323791 ^@ NM_001193466.1(KANSL1):c.662C>T (p.Thr221Ile) http://identifiers.org/clinvar/338258 ^@ NM_032034.3(SLC4A11):c.370A>G (p.Ile124Val) http://identifiers.org/clinvar/323799 ^@ NM_001193466.1(KANSL1):c.-35C>T http://identifiers.org/clinvar/338062 ^@ NM_015338.5(ASXL1):c.-282C>T http://identifiers.org/clinvar/323803 ^@ NM_001193466.1(KANSL1):c.-210G>A http://identifiers.org/clinvar/323804 ^@ NM_001193466.1(KANSL1):c.-227A>G http://identifiers.org/clinvar/323807 ^@ NM_001193466.1(KANSL1):c.-364T>A http://identifiers.org/clinvar/321850 ^@ NM_000304.3(PMP22):c.*828G>A http://identifiers.org/clinvar/323812 ^@ NM_030753.4(WNT3):c.*97G>A http://identifiers.org/clinvar/321856 ^@ NM_000304.3(PMP22):c.*205C>A http://identifiers.org/clinvar/321857 ^@ NM_000304.3(PMP22):c.*173C>T http://identifiers.org/clinvar/338064 ^@ NM_015338.5(ASXL1):c.-239C>G http://identifiers.org/clinvar/338067 ^@ NM_015338.5(ASXL1):c.-178C>G http://identifiers.org/clinvar/323813 ^@ NM_030753.4(WNT3):c.*29T>C http://identifiers.org/clinvar/323818 ^@ NM_004287.4(GOSR2):c.-64G>T http://identifiers.org/clinvar/338072 ^@ NM_015338.5(ASXL1):c.-79_-77dupGCC http://identifiers.org/clinvar/321865 ^@ NM_000304.3(PMP22):c.-141C>G http://identifiers.org/clinvar/338075 ^@ NM_015338.5(ASXL1):c.25_27delAAG (p.Lys9del) http://identifiers.org/clinvar/321934 ^@ NM_017775.3(TTC19):c.-444T>C http://identifiers.org/clinvar/321936 ^@ NM_017775.3(TTC19):c.-190C>T http://identifiers.org/clinvar/338263 ^@ NM_032034.3(SLC4A11):c.-30G>C http://identifiers.org/clinvar/323823 ^@ NM_004287.4(GOSR2):c.336+9G>A http://identifiers.org/clinvar/323826 ^@ NM_004287.4(GOSR2):c.541C>G (p.Leu181Val) http://identifiers.org/clinvar/321939 ^@ NM_017775.3(TTC19):c.-83C>T http://identifiers.org/clinvar/321940 ^@ NM_017775.3(TTC19):c.25C>T (p.Leu9=) http://identifiers.org/clinvar/338079 ^@ NM_015338.5(ASXL1):c.582C>T (p.His194=) http://identifiers.org/clinvar/338080 ^@ NM_015338.5(ASXL1):c.890C>T (p.Thr297Met) http://identifiers.org/clinvar/321942 ^@ NM_017775.3(TTC19):c.155G>A (p.Arg52Gln) http://identifiers.org/clinvar/338082 ^@ NM_015338.5(ASXL1):c.930C>T (p.Asn310=) http://identifiers.org/clinvar/321944 ^@ NM_017775.3(TTC19):c.364G>A (p.Ala122Thr) http://identifiers.org/clinvar/338083 ^@ NM_015338.5(ASXL1):c.991C>G (p.His331Asp) http://identifiers.org/clinvar/323834 ^@ NM_004287.4(GOSR2):c.*1062A>T http://identifiers.org/clinvar/338088 ^@ NM_015338.5(ASXL1):c.1388G>C (p.Ser463Thr) http://identifiers.org/clinvar/323838 ^@ NM_004287.4(GOSR2):c.*1277C>G http://identifiers.org/clinvar/323841 ^@ NM_004287.4(GOSR2):c.*1519T>C http://identifiers.org/clinvar/323842 ^@ NM_004287.4(GOSR2):c.*1655A>G http://identifiers.org/clinvar/321946 ^@ NM_017775.3(TTC19):c.439T>C (p.Phe147Leu) http://identifiers.org/clinvar/323845 ^@ NM_004287.4(GOSR2):c.*1711G>A http://identifiers.org/clinvar/323848 ^@ NM_004287.4(GOSR2):c.*2068C>G http://identifiers.org/clinvar/323858 ^@ NM_004287.4(GOSR2):c.*2337T>C http://identifiers.org/clinvar/323862 ^@ NM_000212.2(ITGB3):c.57G>T (p.Ala19=) http://identifiers.org/clinvar/321949 ^@ NM_017775.3(TTC19):c.994+3A>T http://identifiers.org/clinvar/321952 ^@ NM_017775.3(TTC19):c.*46T>C http://identifiers.org/clinvar/321954 ^@ NM_017775.3(TTC19):c.*301G>A http://identifiers.org/clinvar/338091 ^@ NM_015338.5(ASXL1):c.1965C>T (p.Thr655=) http://identifiers.org/clinvar/321955 ^@ NM_017775.3(TTC19):c.*335C>T http://identifiers.org/clinvar/338092 ^@ NM_015338.5(ASXL1):c.2110G>A (p.Gly704Arg) http://identifiers.org/clinvar/323867 ^@ NM_000212.2(ITGB3):c.1309_1311delGAG (p.Glu437del) http://identifiers.org/clinvar/321964 ^@ NM_017775.3(TTC19):c.*857G>A http://identifiers.org/clinvar/321965 ^@ NM_017775.3(TTC19):c.*971G>A http://identifiers.org/clinvar/323868 ^@ NM_000212.2(ITGB3):c.1558G>A (p.Val520Ile) http://identifiers.org/clinvar/338095 ^@ NM_015338.5(ASXL1):c.2250C>T (p.Pro750=) http://identifiers.org/clinvar/338096 ^@ NM_015338.5(ASXL1):c.2337T>G (p.Pro779=) http://identifiers.org/clinvar/321967 ^@ NM_017775.3(TTC19):c.*1099C>T http://identifiers.org/clinvar/323873 ^@ NM_000212.2(ITGB3):c.2208C>T (p.Ala736=) http://identifiers.org/clinvar/338098 ^@ NM_015338.5(ASXL1):c.2432A>G (p.Asn811Ser) http://identifiers.org/clinvar/323874 ^@ NM_000212.2(ITGB3):c.2328C>T (p.Ala776=) http://identifiers.org/clinvar/321970 ^@ NM_017775.3(TTC19):c.*1296_*1298dupCAA http://identifiers.org/clinvar/321979 ^@ NM_017775.3(TTC19):c.*1321A>C http://identifiers.org/clinvar/338099 ^@ NM_015338.5(ASXL1):c.2526T>C (p.Asn842=) http://identifiers.org/clinvar/321980 ^@ NM_017775.3(TTC19):c.*1325delCinsAAAAAAAAAA http://identifiers.org/clinvar/321981 ^@ NM_017775.3(TTC19):c.*1543A>G http://identifiers.org/clinvar/338112 ^@ NM_015338.5(ASXL1):c.3663A>C (p.Thr1221=) http://identifiers.org/clinvar/321985 ^@ NM_017775.3(TTC19):c.*1886T>C http://identifiers.org/clinvar/338120 ^@ NM_015338.5(ASXL1):c.*22A>G http://identifiers.org/clinvar/323875 ^@ NM_000212.2(ITGB3):c.*12C>T http://identifiers.org/clinvar/338121 ^@ NM_015338.5(ASXL1):c.*78A>G http://identifiers.org/clinvar/323880 ^@ NM_000212.2(ITGB3):c.*480T>C http://identifiers.org/clinvar/338122 ^@ NM_015338.5(ASXL1):c.*87A>G http://identifiers.org/clinvar/323882 ^@ NM_000212.2(ITGB3):c.*553_*555delCAG http://identifiers.org/clinvar/338123 ^@ NM_015338.5(ASXL1):c.*90T>C http://identifiers.org/clinvar/323888 ^@ NM_000212.2(ITGB3):c.*758C>G http://identifiers.org/clinvar/338133 ^@ NM_015338.5(ASXL1):c.*1137C>T http://identifiers.org/clinvar/323889 ^@ NM_000212.2(ITGB3):c.*808_*810delAAG http://identifiers.org/clinvar/323890 ^@ NM_000212.2(ITGB3):c.*919C>T http://identifiers.org/clinvar/321986 ^@ NM_004278.3(PIGL):c.258_259delGA (p.Glu86Aspfs) http://identifiers.org/clinvar/321989 ^@ NM_004278.3(PIGL):c.542C>T (p.Thr181Met) http://identifiers.org/clinvar/321994 ^@ NM_004278.3(PIGL):c.*254T>C http://identifiers.org/clinvar/338137 ^@ NM_015338.5(ASXL1):c.*1230C>T http://identifiers.org/clinvar/323895 ^@ NM_000212.2(ITGB3):c.*1479T>C http://identifiers.org/clinvar/338138 ^@ NM_015338.5(ASXL1):c.*1238C>T http://identifiers.org/clinvar/323897 ^@ NM_000212.2(ITGB3):c.*1542C>T http://identifiers.org/clinvar/338139 ^@ NM_015338.5(ASXL1):c.*1342T>G http://identifiers.org/clinvar/338140 ^@ NM_015338.5(ASXL1):c.*1556_*1557delTC http://identifiers.org/clinvar/323908 ^@ NM_018129.3(PNPO):c.-19A>G http://identifiers.org/clinvar/338142 ^@ NM_015338.5(ASXL1):c.*1687C>T http://identifiers.org/clinvar/321867 ^@ NM_006445.3(PRPF8):c.*36C>T http://identifiers.org/clinvar/321870 ^@ NM_006445.3(PRPF8):c.6854-4G>A http://identifiers.org/clinvar/321871 ^@ NM_006445.3(PRPF8):c.6834G>A (p.Ser2278=) http://identifiers.org/clinvar/321874 ^@ NM_006445.3(PRPF8):c.6588T>C (p.His2196=) http://identifiers.org/clinvar/338147 ^@ NM_006892.3(DNMT3B):c.-234G>C http://identifiers.org/clinvar/338150 ^@ NM_006892.3(DNMT3B):c.-62C>G http://identifiers.org/clinvar/323909 ^@ NM_018129.3(PNPO):c.-18C>T http://identifiers.org/clinvar/321879 ^@ NM_006445.3(PRPF8):c.5469C>T (p.His1823=) http://identifiers.org/clinvar/321893 ^@ NM_006445.3(PRPF8):c.3299+14T>C http://identifiers.org/clinvar/338151 ^@ NM_006892.3(DNMT3B):c.115G>C (p.Glu39Gln) http://identifiers.org/clinvar/338154 ^@ NM_006892.3(DNMT3B):c.158C>T (p.Ser53Leu) http://identifiers.org/clinvar/321896 ^@ NM_006445.3(PRPF8):c.3009C>T (p.His1003=) http://identifiers.org/clinvar/321918 ^@ NM_006445.3(PRPF8):c.534T>C (p.Tyr178=) http://identifiers.org/clinvar/321921 ^@ NM_006445.3(PRPF8):c.283A>G (p.Met95Val) http://identifiers.org/clinvar/338156 ^@ NM_006892.3(DNMT3B):c.516C>T (p.Asp172=) http://identifiers.org/clinvar/323910 ^@ NM_018129.3(PNPO):c.668C>T (p.Thr223Ile) http://identifiers.org/clinvar/321922 ^@ NM_006445.3(PRPF8):c.-4G>T http://identifiers.org/clinvar/338157 ^@ NM_006892.3(DNMT3B):c.895C>A (p.Arg299=) http://identifiers.org/clinvar/321929 ^@ NM_006445.3(PRPF8):c.-62G>T http://identifiers.org/clinvar/338165 ^@ NM_006892.3(DNMT3B):c.1252+13T>G http://identifiers.org/clinvar/321931 ^@ NM_006445.3(PRPF8):c.-76A>G http://identifiers.org/clinvar/338167 ^@ NM_006892.3(DNMT3B):c.1359G>A (p.Gly453=) http://identifiers.org/clinvar/323911 ^@ NM_018129.3(PNPO):c.*72C>T http://identifiers.org/clinvar/338170 ^@ NM_006892.3(DNMT3B):c.1572T>C (p.Cys524=) http://identifiers.org/clinvar/323916 ^@ NM_018129.3(PNPO):c.*301C>A http://identifiers.org/clinvar/323918 ^@ NM_018129.3(PNPO):c.*512A>C http://identifiers.org/clinvar/321932 ^@ NM_006445.3(PRPF8):c.-79C>T http://identifiers.org/clinvar/338173 ^@ NM_006892.3(DNMT3B):c.1760-8C>G http://identifiers.org/clinvar/323939 ^@ NM_018129.3(PNPO):c.*1883G>C http://identifiers.org/clinvar/338174 ^@ NM_006892.3(DNMT3B):c.1760-8C>T http://identifiers.org/clinvar/323940 ^@ NM_018129.3(PNPO):c.*2008A>G http://identifiers.org/clinvar/322018 ^@ NM_012452.2(TNFRSF13B):c.*414G>A http://identifiers.org/clinvar/323943 ^@ NM_000080.3(CHRNE):c.*906G>C http://identifiers.org/clinvar/323946 ^@ NM_000080.3(CHRNE):c.*876G>A http://identifiers.org/clinvar/323947 ^@ NM_000080.3(CHRNE):c.*875C>T http://identifiers.org/clinvar/323952 ^@ NM_000080.3(CHRNE):c.*836C>T http://identifiers.org/clinvar/338191 ^@ NM_006892.3(DNMT3B):c.*299delT http://identifiers.org/clinvar/323961 ^@ NM_000080.3(CHRNE):c.*610C>T http://identifiers.org/clinvar/323965 ^@ NM_000080.3(CHRNE):c.*556C>T http://identifiers.org/clinvar/338193 ^@ NM_006892.3(DNMT3B):c.*560C>T http://identifiers.org/clinvar/322019 ^@ NM_012452.2(TNFRSF13B):c.*371C>T http://identifiers.org/clinvar/322030 ^@ NM_012452.2(TNFRSF13B):c.126T>C (p.Pro42=) http://identifiers.org/clinvar/323968 ^@ NM_000080.3(CHRNE):c.*366G>A http://identifiers.org/clinvar/323971 ^@ NM_000080.3(CHRNE):c.*206G>A http://identifiers.org/clinvar/323975 ^@ NM_000080.3(CHRNE):c.*61C>T http://identifiers.org/clinvar/323981 ^@ NM_000080.3(CHRNE):c.1220-2_1224dupAGCTGCC http://identifiers.org/clinvar/323984 ^@ NM_000080.3(CHRNE):c.1033-6_1033-1dupCCCCAG http://identifiers.org/clinvar/338199 ^@ NM_006892.3(DNMT3B):c.*1064delA http://identifiers.org/clinvar/323987 ^@ NM_000080.3(CHRNE):c.901G>A (p.Val301Met) http://identifiers.org/clinvar/322034 ^@ NM_144997.5(FLCN):c.*1336G>T http://identifiers.org/clinvar/338201 ^@ NM_006892.3(DNMT3B):c.*1318delT http://identifiers.org/clinvar/322035 ^@ NM_144997.5(FLCN):c.*1273C>T http://identifiers.org/clinvar/338203 ^@ NM_006892.3(DNMT3B):c.*1336G>A http://identifiers.org/clinvar/323996 ^@ NM_000080.3(CHRNE):c.235-5C>T http://identifiers.org/clinvar/323997 ^@ NM_000080.3(CHRNE):c.107A>C (p.Asp36Ala) http://identifiers.org/clinvar/322044 ^@ NM_144997.5(FLCN):c.*739C>T http://identifiers.org/clinvar/324135 ^@ NM_053013.3(ENO3):c.86-3delC http://identifiers.org/clinvar/338205 ^@ NM_006892.3(DNMT3B):c.*1405C>T http://identifiers.org/clinvar/338206 ^@ NM_003098.2(SNTA1):c.*343G>A http://identifiers.org/clinvar/324141 ^@ NM_053013.3(ENO3):c.452A>G (p.Asn151Ser) http://identifiers.org/clinvar/324147 ^@ NM_053013.3(ENO3):c.834delG (p.Glu278Aspfs) http://identifiers.org/clinvar/322057 ^@ NM_144997.5(FLCN):c.*333C>T http://identifiers.org/clinvar/322072 ^@ NM_144997.5(FLCN):c.-29G>A http://identifiers.org/clinvar/338207 ^@ NM_003098.2(SNTA1):c.*342C>T http://identifiers.org/clinvar/324001 ^@ NM_005220.2(DLX3):c.*1326T>A http://identifiers.org/clinvar/322074 ^@ NM_144997.5(FLCN):c.-78G>C http://identifiers.org/clinvar/338211 ^@ NM_003098.2(SNTA1):c.1479C>T (p.Phe493=) http://identifiers.org/clinvar/322083 ^@ NM_144997.5(FLCN):c.-302G>A http://identifiers.org/clinvar/338219 ^@ NM_003098.2(SNTA1):c.497-7C>T http://identifiers.org/clinvar/324002 ^@ NM_005220.2(DLX3):c.*1300C>G http://identifiers.org/clinvar/322085 ^@ NM_144997.5(FLCN):c.-437C>T http://identifiers.org/clinvar/322086 ^@ NM_144997.5(FLCN):c.-480G>C http://identifiers.org/clinvar/338220 ^@ NM_003098.2(SNTA1):c.277G>A (p.Ala93Thr) http://identifiers.org/clinvar/338221 ^@ NM_003098.2(SNTA1):c.-18G>A http://identifiers.org/clinvar/321999 ^@ NM_002615.6(SERPINF1):c.134C>T (p.Pro45Leu) http://identifiers.org/clinvar/324006 ^@ NM_005220.2(DLX3):c.*1224delT http://identifiers.org/clinvar/322003 ^@ NM_002615.6(SERPINF1):c.390T>C (p.Thr130=) http://identifiers.org/clinvar/338223 ^@ NM_003098.2(SNTA1):c.-96G>A http://identifiers.org/clinvar/324005 ^@ NM_005220.2(DLX3):c.*1224dupT http://identifiers.org/clinvar/322009 ^@ NM_002615.6(SERPINF1):c.713C>T (p.Thr238Ile) http://identifiers.org/clinvar/322011 ^@ NM_002615.6(SERPINF1):c.840G>T (p.Leu280=) http://identifiers.org/clinvar/338264 ^@ NM_000687.3(AHCY):c.*679A>T http://identifiers.org/clinvar/324012 ^@ NM_005220.2(DLX3):c.*987C>T http://identifiers.org/clinvar/322090 ^@ NM_145691.3(ATPAF2):c.*337T>C http://identifiers.org/clinvar/324015 ^@ NM_005220.2(DLX3):c.*714C>T http://identifiers.org/clinvar/324031 ^@ NM_005220.2(DLX3):c.-132C>A http://identifiers.org/clinvar/324037 ^@ NM_000023.3(SGCA):c.-31T>C http://identifiers.org/clinvar/324038 ^@ NM_000023.3(SGCA):c.-28C>T http://identifiers.org/clinvar/338265 ^@ NM_000687.3(AHCY):c.*678C>T http://identifiers.org/clinvar/338267 ^@ NM_000687.3(AHCY):c.*301T>G http://identifiers.org/clinvar/322094 ^@ NM_145691.3(ATPAF2):c.*130T>C http://identifiers.org/clinvar/338269 ^@ NM_000687.3(AHCY):c.1170G>A (p.Leu390=) http://identifiers.org/clinvar/324048 ^@ NM_000023.3(SGCA):c.*92C>T http://identifiers.org/clinvar/324050 ^@ NM_000023.3(SGCA):c.*148G>A http://identifiers.org/clinvar/324054 ^@ NM_000088.3(COL1A1):c.*1324A>G http://identifiers.org/clinvar/322102 ^@ NM_016239.3(MYO15A):c.-219-14T>C http://identifiers.org/clinvar/322111 ^@ NM_016239.3(MYO15A):c.655T>G (p.Ser219Ala) http://identifiers.org/clinvar/324055 ^@ NM_000088.3(COL1A1):c.*1265C>T http://identifiers.org/clinvar/324059 ^@ NM_000088.3(COL1A1):c.*1165C>G http://identifiers.org/clinvar/322121 ^@ NM_016239.3(MYO15A):c.1791G>A (p.Ala597=) http://identifiers.org/clinvar/322127 ^@ NM_016239.3(MYO15A):c.2855G>A (p.Gly952Asp) http://identifiers.org/clinvar/322136 ^@ NM_016239.3(MYO15A):c.4038+8_4038+9insAGGG http://identifiers.org/clinvar/324060 ^@ NM_000088.3(COL1A1):c.*1087C>T http://identifiers.org/clinvar/322142 ^@ NM_016239.3(MYO15A):c.4207-12C>T http://identifiers.org/clinvar/324065 ^@ NM_000088.3(COL1A1):c.*1026_*1028delTGT http://identifiers.org/clinvar/324073 ^@ NM_000088.3(COL1A1):c.*733G>A http://identifiers.org/clinvar/322145 ^@ NM_016239.3(MYO15A):c.4875+11C>T http://identifiers.org/clinvar/338282 ^@ NM_000687.3(AHCY):c.28+7C>T http://identifiers.org/clinvar/338283 ^@ NM_000687.3(AHCY):c.-50A>C http://identifiers.org/clinvar/338285 ^@ NM_000687.3(AHCY):c.-107G>A http://identifiers.org/clinvar/338287 ^@ NM_000178.3(GSS):c.*391A>T http://identifiers.org/clinvar/322146 ^@ NM_016239.3(MYO15A):c.5007+7C>T http://identifiers.org/clinvar/324079 ^@ NM_000088.3(COL1A1):c.*437A>C http://identifiers.org/clinvar/322147 ^@ NM_016239.3(MYO15A):c.5058C>A (p.Asn1686Lys) http://identifiers.org/clinvar/324085 ^@ NM_000088.3(COL1A1):c.*251dupA http://identifiers.org/clinvar/324091 ^@ NM_000088.3(COL1A1):c.*202A>G http://identifiers.org/clinvar/322156 ^@ NM_016239.3(MYO15A):c.6559C>T (p.Arg2187Cys) http://identifiers.org/clinvar/324093 ^@ NM_000088.3(COL1A1):c.*88T>C http://identifiers.org/clinvar/324095 ^@ NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) http://identifiers.org/clinvar/324102 ^@ NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) http://identifiers.org/clinvar/324108 ^@ NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) http://identifiers.org/clinvar/338290 ^@ NM_000178.3(GSS):c.*90A>G http://identifiers.org/clinvar/338291 ^@ NM_000178.3(GSS):c.*69G>T http://identifiers.org/clinvar/324109 ^@ NM_000088.3(COL1A1):c.1983+9G>T http://identifiers.org/clinvar/324112 ^@ NM_000088.3(COL1A1):c.1669-10C>A http://identifiers.org/clinvar/338296 ^@ NM_000178.3(GSS):c.1186A>G (p.Ile396Val) http://identifiers.org/clinvar/338298 ^@ NM_000178.3(GSS):c.957G>A (p.Met319Ile) http://identifiers.org/clinvar/324129 ^@ NM_000088.3(COL1A1):c.-66G>A http://identifiers.org/clinvar/338301 ^@ NM_000178.3(GSS):c.448G>A (p.Ala150Thr) http://identifiers.org/clinvar/322161 ^@ NM_016239.3(MYO15A):c.7502C>T (p.Thr2501Met) http://identifiers.org/clinvar/322170 ^@ NM_016239.3(MYO15A):c.8239G>A (p.Asp2747Asn) http://identifiers.org/clinvar/324131 ^@ NM_000088.3(COL1A1):c.-98G>C http://identifiers.org/clinvar/338306 ^@ NM_000178.3(GSS):c.-46A>G http://identifiers.org/clinvar/322174 ^@ NM_016239.3(MYO15A):c.8895C>T (p.Arg2965=) http://identifiers.org/clinvar/322184 ^@ NM_016239.3(MYO15A):c.10442C>T (p.Ala3481Val) http://identifiers.org/clinvar/322202 ^@ NM_015681.4(B9D1):c.-110G>A http://identifiers.org/clinvar/324153 ^@ NM_017777.3(MKS1):c.*469C>T http://identifiers.org/clinvar/324155 ^@ NM_017777.3(MKS1):c.*381A>G http://identifiers.org/clinvar/322205 ^@ NM_000382.2(ALDH3A2):c.-97G>A http://identifiers.org/clinvar/322208 ^@ NM_000382.2(ALDH3A2):c.386-6A>G http://identifiers.org/clinvar/322219 ^@ NM_000382.2(ALDH3A2):c.1446A>T (p.Ala482=) http://identifiers.org/clinvar/322220 ^@ NM_000382.2(ALDH3A2):c.*36G>A http://identifiers.org/clinvar/324159 ^@ NM_017777.3(MKS1):c.1322C>T (p.Thr441Met) http://identifiers.org/clinvar/324165 ^@ NM_017777.3(MKS1):c.644+8G>T http://identifiers.org/clinvar/322222 ^@ NM_000382.2(ALDH3A2):c.*330T>C http://identifiers.org/clinvar/338307 ^@ NM_000178.3(GSS):c.-63G>C http://identifiers.org/clinvar/322223 ^@ NM_000382.2(ALDH3A2):c.*381_*382delTG http://identifiers.org/clinvar/322225 ^@ NM_000382.2(ALDH3A2):c.*439G>C http://identifiers.org/clinvar/338308 ^@ NM_000178.3(GSS):c.-80G>C http://identifiers.org/clinvar/338309 ^@ NM_000557.4(GDF5):c.*520T>C http://identifiers.org/clinvar/324173 ^@ NM_058216.2(RAD51C):c.-26C>T http://identifiers.org/clinvar/324178 ^@ NM_015294.4(TRIM37):c.*961A>G http://identifiers.org/clinvar/338318 ^@ NM_000557.4(GDF5):c.1000C>G (p.Arg334Gly) http://identifiers.org/clinvar/324185 ^@ NM_015294.4(TRIM37):c.*369C>T http://identifiers.org/clinvar/324186 ^@ NM_015294.4(TRIM37):c.*344G>A http://identifiers.org/clinvar/324187 ^@ NM_015294.4(TRIM37):c.*235G>A http://identifiers.org/clinvar/324188 ^@ NM_015294.4(TRIM37):c.*172C>T http://identifiers.org/clinvar/338319 ^@ NM_000557.4(GDF5):c.953G>C (p.Arg318Pro) http://identifiers.org/clinvar/338320 ^@ NM_000557.4(GDF5):c.855C>T (p.Gly285=) http://identifiers.org/clinvar/324191 ^@ NM_015294.4(TRIM37):c.2676T>G (p.Ala892=) http://identifiers.org/clinvar/338333 ^@ NM_015474.3(SAMHD1):c.*362G>A http://identifiers.org/clinvar/338342 ^@ NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) http://identifiers.org/clinvar/322233 ^@ NM_000382.2(ALDH3A2):c.*1258A>C http://identifiers.org/clinvar/324198 ^@ NM_015294.4(TRIM37):c.1748C>A (p.Pro583His) http://identifiers.org/clinvar/338352 ^@ NM_015474.3(SAMHD1):c.-10A>G http://identifiers.org/clinvar/322235 ^@ NM_000382.2(ALDH3A2):c.*1462G>A http://identifiers.org/clinvar/338353 ^@ NM_015474.3(SAMHD1):c.-31T>C http://identifiers.org/clinvar/324208 ^@ NM_015294.4(TRIM37):c.398C>G (p.Ala133Gly) http://identifiers.org/clinvar/322237 ^@ NM_000382.2(ALDH3A2):c.*1609A>G http://identifiers.org/clinvar/322247 ^@ NM_000430.3(PAFAH1B1):c.-504G>A http://identifiers.org/clinvar/324210 ^@ NM_015294.4(TRIM37):c.-139G>A http://identifiers.org/clinvar/338360 ^@ NM_153638.3(PANK2):c.519C>G (p.Pro173=) http://identifiers.org/clinvar/322248 ^@ NM_000430.3(PAFAH1B1):c.-440_-438delAAG http://identifiers.org/clinvar/324216 ^@ NM_015294.4(TRIM37):c.-296G>T http://identifiers.org/clinvar/338365 ^@ NM_153638.3(PANK2):c.1684G>A (p.Ala562Thr) http://identifiers.org/clinvar/338366 ^@ NM_153638.3(PANK2):c.*63dupT http://identifiers.org/clinvar/322255 ^@ NM_000430.3(PAFAH1B1):c.-209G>A http://identifiers.org/clinvar/324220 ^@ NM_015294.4(TRIM37):c.-365G>A http://identifiers.org/clinvar/338369 ^@ NM_153638.3(PANK2):c.*382C>T http://identifiers.org/clinvar/324221 ^@ NM_015294.4(TRIM37):c.-389G>T http://identifiers.org/clinvar/338373 ^@ NM_005461.4(MAFB):c.*1849C>T http://identifiers.org/clinvar/324233 ^@ NM_000717.4(CA4):c.531C>A (p.Asn177Lys) http://identifiers.org/clinvar/338382 ^@ NM_005461.4(MAFB):c.*1551G>A http://identifiers.org/clinvar/324242 ^@ NM_018488.3(TBX4):c.24C>T (p.Ser8=) http://identifiers.org/clinvar/338386 ^@ NM_005461.4(MAFB):c.*1314A>G http://identifiers.org/clinvar/324252 ^@ NM_018488.3(TBX4):c.703-8C>T http://identifiers.org/clinvar/338387 ^@ NM_005461.4(MAFB):c.*1255C>T http://identifiers.org/clinvar/322265 ^@ NM_000430.3(PAFAH1B1):c.*68dupC http://identifiers.org/clinvar/322267 ^@ NM_000430.3(PAFAH1B1):c.*387T>C http://identifiers.org/clinvar/322273 ^@ NM_000430.3(PAFAH1B1):c.*793A>G http://identifiers.org/clinvar/324262 ^@ NM_018488.3(TBX4):c.1224C>T (p.Asp408=) http://identifiers.org/clinvar/338392 ^@ NM_005461.4(MAFB):c.*976G>A http://identifiers.org/clinvar/338394 ^@ NM_005461.4(MAFB):c.*929delA http://identifiers.org/clinvar/338397 ^@ NM_005461.4(MAFB):c.*507_*510delTGTC http://identifiers.org/clinvar/338399 ^@ NM_005461.4(MAFB):c.*377G>C http://identifiers.org/clinvar/338400 ^@ NM_005461.4(MAFB):c.*309A>T http://identifiers.org/clinvar/324274 ^@ NM_018488.3(TBX4):c.*99T>A http://identifiers.org/clinvar/338403 ^@ NM_005461.4(MAFB):c.*155C>T http://identifiers.org/clinvar/338405 ^@ NM_005461.4(MAFB):c.*68G>A http://identifiers.org/clinvar/322281 ^@ NM_000430.3(PAFAH1B1):c.*1133A>G http://identifiers.org/clinvar/322286 ^@ NM_000430.3(PAFAH1B1):c.*1496C>G http://identifiers.org/clinvar/338406 ^@ NM_005461.4(MAFB):c.*64C>T http://identifiers.org/clinvar/324270 ^@ NM_018488.3(TBX4):c.*128_*137dupGTGTGTGTGT http://identifiers.org/clinvar/324273 ^@ NM_018488.3(TBX4):c.*134_*137delGTGT http://identifiers.org/clinvar/322290 ^@ NM_000430.3(PAFAH1B1):c.*1681G>A http://identifiers.org/clinvar/324276 ^@ NM_018488.3(TBX4):c.*139_*140delTA http://identifiers.org/clinvar/324279 ^@ NM_018488.3(TBX4):c.*313A>C http://identifiers.org/clinvar/338408 ^@ NM_005461.4(MAFB):c.745C>A (p.Arg249=) http://identifiers.org/clinvar/338409 ^@ NM_005461.4(MAFB):c.525C>G (p.Ser175Arg) http://identifiers.org/clinvar/338412 ^@ NM_005461.4(MAFB):c.189G>A (p.Pro63=) http://identifiers.org/clinvar/338413 ^@ NM_005461.4(MAFB):c.-75C>G http://identifiers.org/clinvar/322291 ^@ NM_000430.3(PAFAH1B1):c.*1713A>G http://identifiers.org/clinvar/324280 ^@ NM_018488.3(TBX4):c.*327G>A http://identifiers.org/clinvar/338414 ^@ NM_005461.4(MAFB):c.-77C>G http://identifiers.org/clinvar/338417 ^@ NM_005461.4(MAFB):c.-204_-203delTG http://identifiers.org/clinvar/322298 ^@ NM_000430.3(PAFAH1B1):c.*1991T>C http://identifiers.org/clinvar/338419 ^@ NM_005461.4(MAFB):c.-229C>T http://identifiers.org/clinvar/322304 ^@ NM_000430.3(PAFAH1B1):c.*2451A>G http://identifiers.org/clinvar/338423 ^@ NM_000457.4(HNF4A):c.-68G>A http://identifiers.org/clinvar/338427 ^@ NM_000457.4(HNF4A):c.792G>A (p.Val264=) http://identifiers.org/clinvar/324286 ^@ NM_018488.3(TBX4):c.*766A>C http://identifiers.org/clinvar/324287 ^@ NM_032043.2(BRIP1):c.*4000T>C http://identifiers.org/clinvar/324289 ^@ NM_032043.2(BRIP1):c.*3918C>T http://identifiers.org/clinvar/324290 ^@ NM_032043.2(BRIP1):c.*3821A>G http://identifiers.org/clinvar/338428 ^@ NM_000457.4(HNF4A):c.1242C>T (p.Asn414=) http://identifiers.org/clinvar/338429 ^@ NM_000457.4(HNF4A):c.1282+6C>A http://identifiers.org/clinvar/322305 ^@ NM_000430.3(PAFAH1B1):c.*2574G>A http://identifiers.org/clinvar/338435 ^@ NM_000457.4(HNF4A):c.*226C>A http://identifiers.org/clinvar/322307 ^@ NM_000430.3(PAFAH1B1):c.*2600G>A http://identifiers.org/clinvar/338437 ^@ NM_000457.4(HNF4A):c.*271C>T http://identifiers.org/clinvar/324294 ^@ NM_032043.2(BRIP1):c.*3488A>T http://identifiers.org/clinvar/338443 ^@ NM_000457.4(HNF4A):c.*521G>A http://identifiers.org/clinvar/324295 ^@ NM_032043.2(BRIP1):c.*3479A>G http://identifiers.org/clinvar/322309 ^@ NM_000430.3(PAFAH1B1):c.*2608C>A http://identifiers.org/clinvar/324299 ^@ NM_032043.2(BRIP1):c.*3145A>G http://identifiers.org/clinvar/324304 ^@ NM_032043.2(BRIP1):c.*2819_*2820insAAAAAA http://identifiers.org/clinvar/338447 ^@ NM_000457.4(HNF4A):c.*782G>A http://identifiers.org/clinvar/322315 ^@ NM_000430.3(PAFAH1B1):c.*2945C>G http://identifiers.org/clinvar/322317 ^@ NM_000430.3(PAFAH1B1):c.*3040C>T http://identifiers.org/clinvar/322319 ^@ NM_000430.3(PAFAH1B1):c.*3075C>G http://identifiers.org/clinvar/322320 ^@ NM_000430.3(PAFAH1B1):c.*3180G>A http://identifiers.org/clinvar/324306 ^@ NM_032043.2(BRIP1):c.*2815_*2816insAGAAA http://identifiers.org/clinvar/338451 ^@ NM_000457.4(HNF4A):c.*977C>G http://identifiers.org/clinvar/324312 ^@ NM_032043.2(BRIP1):c.*2811_*2815dupAAAAA http://identifiers.org/clinvar/324313 ^@ NM_032043.2(BRIP1):c.*2715C>T http://identifiers.org/clinvar/324317 ^@ NM_032043.2(BRIP1):c.*2667C>T http://identifiers.org/clinvar/338453 ^@ NM_000457.4(HNF4A):c.*1078G>A http://identifiers.org/clinvar/324323 ^@ NM_032043.2(BRIP1):c.*1964T>C http://identifiers.org/clinvar/338456 ^@ NM_000457.4(HNF4A):c.*1095G>A http://identifiers.org/clinvar/324324 ^@ NM_032043.2(BRIP1):c.*1868G>T http://identifiers.org/clinvar/338461 ^@ NM_000457.4(HNF4A):c.*1783G>T http://identifiers.org/clinvar/322322 ^@ NM_000430.3(PAFAH1B1):c.*3294G>A http://identifiers.org/clinvar/324347 ^@ NM_032043.2(BRIP1):c.3251C>G (p.Thr1084Ser) http://identifiers.org/clinvar/324348 ^@ NM_032043.2(BRIP1):c.3240dupT (p.Ala1081Cysfs) http://identifiers.org/clinvar/338474 ^@ NM_000457.4(HNF4A):c.*2639T>G http://identifiers.org/clinvar/324352 ^@ NM_032043.2(BRIP1):c.54T>C (p.Pro18=) http://identifiers.org/clinvar/338476 ^@ NM_000457.4(HNF4A):c.*2676dupT http://identifiers.org/clinvar/324353 ^@ NM_032043.2(BRIP1):c.-197C>A http://identifiers.org/clinvar/324355 ^@ NM_032043.2(BRIP1):c.-229C>G http://identifiers.org/clinvar/338478 ^@ NM_000457.4(HNF4A):c.*2677dupC http://identifiers.org/clinvar/324363 ^@ NM_000789.3(ACE):c.411G>T (p.Arg137=) http://identifiers.org/clinvar/324368 ^@ NM_000789.3(ACE):c.714C>T (p.Asp238=) http://identifiers.org/clinvar/338489 ^@ NM_000457.4(HNF4A):c.*2992C>T http://identifiers.org/clinvar/338494 ^@ NM_000457.4(HNF4A):c.*3086C>T http://identifiers.org/clinvar/322327 ^@ NM_000430.3(PAFAH1B1):c.*3442T>G http://identifiers.org/clinvar/324373 ^@ NM_000789.3(ACE):c.975G>T (p.Val325=) http://identifiers.org/clinvar/338498 ^@ NM_000457.4(HNF4A):c.*3143G>T http://identifiers.org/clinvar/324374 ^@ NM_000789.3(ACE):c.1060G>A (p.Gly354Arg) http://identifiers.org/clinvar/338499 ^@ NM_000457.4(HNF4A):c.*3153C>A http://identifiers.org/clinvar/324382 ^@ NM_000789.3(ACE):c.1523G>A (p.Arg508Gln) http://identifiers.org/clinvar/322328 ^@ NM_000430.3(PAFAH1B1):c.*3447G>C http://identifiers.org/clinvar/338508 ^@ NM_000022.3(ADA):c.594C>T (p.Val198=) http://identifiers.org/clinvar/324387 ^@ NM_000789.3(ACE):c.1842C>T (p.Asn614=) http://identifiers.org/clinvar/322329 ^@ NM_000430.3(PAFAH1B1):c.*3528C>G http://identifiers.org/clinvar/322343 ^@ NM_080669.5(SLC46A1):c.*4323C>G http://identifiers.org/clinvar/324388 ^@ NM_000789.3(ACE):c.1872C>T (p.Pro624=) http://identifiers.org/clinvar/324391 ^@ NM_000789.3(ACE):c.2299G>A (p.Glu767Lys) http://identifiers.org/clinvar/322346 ^@ NM_080669.5(SLC46A1):c.*4030C>T http://identifiers.org/clinvar/338515 ^@ NM_000308.3(CTSA):c.-271G>A http://identifiers.org/clinvar/322348 ^@ NM_080669.5(SLC46A1):c.*3947G>A http://identifiers.org/clinvar/322358 ^@ NM_080669.5(SLC46A1):c.*3266G>A http://identifiers.org/clinvar/324393 ^@ NM_000789.3(ACE):c.2320A>G (p.Met774Val) http://identifiers.org/clinvar/324394 ^@ NM_000789.3(ACE):c.2415C>T (p.Tyr805=) http://identifiers.org/clinvar/324395 ^@ NM_000789.3(ACE):c.2460T>C (p.Asp820=) http://identifiers.org/clinvar/324406 ^@ NM_000789.3(ACE):c.2754G>A (p.Arg918=) http://identifiers.org/clinvar/338522 ^@ NM_000308.3(CTSA):c.-43G>T http://identifiers.org/clinvar/322362 ^@ NM_080669.5(SLC46A1):c.*3009G= http://identifiers.org/clinvar/338528 ^@ NM_000308.3(CTSA):c.412-5T>G http://identifiers.org/clinvar/324412 ^@ NM_000789.3(ACE):c.3038G>C (p.Gly1013Ala) http://identifiers.org/clinvar/322367 ^@ NM_080669.5(SLC46A1):c.*2808G>C http://identifiers.org/clinvar/322368 ^@ NM_080669.5(SLC46A1):c.*2661G>C http://identifiers.org/clinvar/322370 ^@ NM_080669.5(SLC46A1):c.*2558C>T http://identifiers.org/clinvar/338532 ^@ NM_000308.3(CTSA):c.823G>A (p.Val275Met) http://identifiers.org/clinvar/322374 ^@ NM_080669.5(SLC46A1):c.*2273A>G http://identifiers.org/clinvar/322376 ^@ NM_080669.5(SLC46A1):c.*2123G>C http://identifiers.org/clinvar/324415 ^@ NM_000789.3(ACE):c.3133G>A (p.Asp1045Asn) http://identifiers.org/clinvar/322391 ^@ NM_080669.5(SLC46A1):c.*1062G>A http://identifiers.org/clinvar/322393 ^@ NM_080669.5(SLC46A1):c.*928A>G http://identifiers.org/clinvar/324418 ^@ NM_000789.3(ACE):c.3721G>A (p.Gly1241Ser) http://identifiers.org/clinvar/324419 ^@ NM_000789.3(ACE):c.3769G>A (p.Val1257Met) http://identifiers.org/clinvar/322400 ^@ NM_080669.5(SLC46A1):c.*90G>A http://identifiers.org/clinvar/338534 ^@ NM_000308.3(CTSA):c.893C>T (p.Pro298Leu) http://identifiers.org/clinvar/322404 ^@ NM_080669.5(SLC46A1):c.1367C>T (p.Pro456Leu) http://identifiers.org/clinvar/322415 ^@ NM_003593.2(FOXN1):c.226G>A (p.Glu76Lys) http://identifiers.org/clinvar/324422 ^@ NM_000789.3(ACE):c.3884C>T (p.Pro1295Leu) http://identifiers.org/clinvar/324426 ^@ NM_000789.3(ACE):c.*334G>A http://identifiers.org/clinvar/324428 ^@ NM_000789.3(ACE):c.*505C>G http://identifiers.org/clinvar/322420 ^@ NM_003593.2(FOXN1):c.550C>A (p.Leu184Ile) http://identifiers.org/clinvar/338535 ^@ NM_000308.3(CTSA):c.1002+7G>A http://identifiers.org/clinvar/324442 ^@ NM_016360.3(TACO1):c.212G>C (p.Gly71Ala) http://identifiers.org/clinvar/322425 ^@ NM_003593.2(FOXN1):c.852T>C (p.Leu284=) http://identifiers.org/clinvar/322426 ^@ NM_003593.2(FOXN1):c.1135+3G>A http://identifiers.org/clinvar/322429 ^@ NM_003593.2(FOXN1):c.1216G>A (p.Gly406Ser) http://identifiers.org/clinvar/322430 ^@ NM_003593.2(FOXN1):c.1288C>T (p.Pro430Ser) http://identifiers.org/clinvar/338541 ^@ NM_000308.3(CTSA):c.1420G>A (p.Gly474Ser) http://identifiers.org/clinvar/338558 ^@ NM_004994.2(MMP9):c.1891C>A (p.Arg631Ser) http://identifiers.org/clinvar/322432 ^@ NM_003593.2(FOXN1):c.1549G>T (p.Asp517Tyr) http://identifiers.org/clinvar/324444 ^@ NM_016360.3(TACO1):c.297T>G (p.Pro99=) http://identifiers.org/clinvar/338560 ^@ NM_004994.2(MMP9):c.2042G>A (p.Arg681His) http://identifiers.org/clinvar/324445 ^@ NM_016360.3(TACO1):c.511A>C (p.Asn171His) http://identifiers.org/clinvar/338563 ^@ NM_004994.2(MMP9):c.*146T>C http://identifiers.org/clinvar/324450 ^@ NM_000515.4(GH1):c.563T>C (p.Leu188Pro) http://identifiers.org/clinvar/338578 ^@ NM_001250.5(CD40):c.*119C>T http://identifiers.org/clinvar/322439 ^@ NM_003593.2(FOXN1):c.*154G>A http://identifiers.org/clinvar/322443 ^@ NM_003593.2(FOXN1):c.*300C>T http://identifiers.org/clinvar/324451 ^@ NM_000515.4(GH1):c.478C>T (p.Arg160Trp) http://identifiers.org/clinvar/324452 ^@ NM_000515.4(GH1):c.456+12G>A http://identifiers.org/clinvar/338579 ^@ NM_001250.5(CD40):c.*135C>G http://identifiers.org/clinvar/338583 ^@ NM_001250.5(CD40):c.*316G>C http://identifiers.org/clinvar/324459 ^@ NM_000515.4(GH1):c.16C>A (p.Arg6=) http://identifiers.org/clinvar/338584 ^@ NM_001250.5(CD40):c.*338A>G http://identifiers.org/clinvar/338590 ^@ NM_030777.3(SLC2A10):c.300G>C (p.Trp100Cys) http://identifiers.org/clinvar/324469 ^@ NM_000334.4(SCN4A):c.*1890C>A http://identifiers.org/clinvar/338596 ^@ NM_030777.3(SLC2A10):c.1305C>T (p.Leu435=) http://identifiers.org/clinvar/322456 ^@ NM_005148.3(UNC119):c.*140A>G http://identifiers.org/clinvar/322459 ^@ NM_005148.3(UNC119):c.*72C>T http://identifiers.org/clinvar/322461 ^@ NM_005148.3(UNC119):c.626G>A (p.Arg209His) http://identifiers.org/clinvar/324470 ^@ NM_000334.4(SCN4A):c.*1887A>G http://identifiers.org/clinvar/324476 ^@ NM_000334.4(SCN4A):c.*1611A>G http://identifiers.org/clinvar/322464 ^@ NM_005148.3(UNC119):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/338608 ^@ NM_030777.3(SLC2A10):c.*334A>G http://identifiers.org/clinvar/324490 ^@ NM_000334.4(SCN4A):c.*1057C>T http://identifiers.org/clinvar/324495 ^@ NM_000334.4(SCN4A):c.*670T>G http://identifiers.org/clinvar/324498 ^@ NM_000334.4(SCN4A):c.*332C>T http://identifiers.org/clinvar/338609 ^@ NM_030777.3(SLC2A10):c.*389C>G http://identifiers.org/clinvar/324502 ^@ NM_000334.4(SCN4A):c.*122G>A http://identifiers.org/clinvar/322469 ^@ NM_005148.3(UNC119):c.234C>T (p.Ser78=) http://identifiers.org/clinvar/324510 ^@ NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) http://identifiers.org/clinvar/322470 ^@ NM_005148.3(UNC119):c.220+15G>C http://identifiers.org/clinvar/338613 ^@ NM_030777.3(SLC2A10):c.*478G>A http://identifiers.org/clinvar/324511 ^@ NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) http://identifiers.org/clinvar/338614 ^@ NM_030777.3(SLC2A10):c.*513T>C http://identifiers.org/clinvar/338615 ^@ NM_030777.3(SLC2A10):c.*712A>G http://identifiers.org/clinvar/322471 ^@ NM_005148.3(UNC119):c.47C>T (p.Ser16Phe) http://identifiers.org/clinvar/338616 ^@ NM_030777.3(SLC2A10):c.*809C>T http://identifiers.org/clinvar/324513 ^@ NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) http://identifiers.org/clinvar/338619 ^@ NM_030777.3(SLC2A10):c.*1100T>G http://identifiers.org/clinvar/322475 ^@ NM_005148.3(UNC119):c.-66T>G http://identifiers.org/clinvar/322485 ^@ NM_178170.2(NEK8):c.1897G>A (p.Glu633Lys) http://identifiers.org/clinvar/324515 ^@ NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) http://identifiers.org/clinvar/324516 ^@ NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) http://identifiers.org/clinvar/322486 ^@ NM_178170.2(NEK8):c.1938A>C (p.Gly646=) http://identifiers.org/clinvar/324518 ^@ NM_000334.4(SCN4A):c.4289-4G>A http://identifiers.org/clinvar/322493 ^@ NM_178170.2(NEK8):c.*381C>T http://identifiers.org/clinvar/324523 ^@ NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) http://identifiers.org/clinvar/324526 ^@ NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) http://identifiers.org/clinvar/338622 ^@ NM_030777.3(SLC2A10):c.*1272G>C http://identifiers.org/clinvar/324529 ^@ NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) http://identifiers.org/clinvar/338623 ^@ NM_030777.3(SLC2A10):c.*1293T>C http://identifiers.org/clinvar/324532 ^@ NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) http://identifiers.org/clinvar/338627 ^@ NM_030777.3(SLC2A10):c.*1731C>T http://identifiers.org/clinvar/322494 ^@ NM_178170.2(NEK8):c.*388C>T http://identifiers.org/clinvar/338632 ^@ NM_030777.3(SLC2A10):c.*2203C>A http://identifiers.org/clinvar/324543 ^@ NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) http://identifiers.org/clinvar/322495 ^@ NM_178170.2(NEK8):c.*396G>A http://identifiers.org/clinvar/338638 ^@ NM_000311.4(PRNP):c.-310T>A http://identifiers.org/clinvar/324544 ^@ NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) http://identifiers.org/clinvar/324549 ^@ NM_000334.4(SCN4A):c.858G>A (p.Pro286=) http://identifiers.org/clinvar/322497 ^@ NM_178170.2(NEK8):c.*421G>A http://identifiers.org/clinvar/338639 ^@ NM_000311.4(PRNP):c.-245C>G http://identifiers.org/clinvar/324550 ^@ NM_000334.4(SCN4A):c.483-5C>A http://identifiers.org/clinvar/338640 ^@ NM_000311.4(PRNP):c.-211G>A http://identifiers.org/clinvar/322511 ^@ NM_001045.5(SLC6A4):c.*1576C>T http://identifiers.org/clinvar/338643 ^@ NM_000311.4(PRNP):c.-21G>T http://identifiers.org/clinvar/324551 ^@ NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) http://identifiers.org/clinvar/324552 ^@ NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) http://identifiers.org/clinvar/324557 ^@ NM_000334.4(SCN4A):c.-33C>T http://identifiers.org/clinvar/324568 ^@ NM_014336.4(AIPL1):c.*1658T>C http://identifiers.org/clinvar/322520 ^@ NM_001045.5(SLC6A4):c.*597C>G http://identifiers.org/clinvar/338645 ^@ NM_000311.4(PRNP):c.159C>T (p.Gly53=) http://identifiers.org/clinvar/338646 ^@ NM_000311.4(PRNP):c.160G>A (p.Gly54Ser) http://identifiers.org/clinvar/322540 ^@ NM_001045.5(SLC6A4):c.41C>T (p.Ala14Val) http://identifiers.org/clinvar/338648 ^@ NM_000311.4(PRNP):c.246A>G (p.Gly82=) http://identifiers.org/clinvar/324575 ^@ NM_014336.4(AIPL1):c.*1444G>A http://identifiers.org/clinvar/338650 ^@ NM_000311.4(PRNP):c.351A>G (p.Ala117=) http://identifiers.org/clinvar/322547 ^@ NM_001045.5(SLC6A4):c.-232G>A http://identifiers.org/clinvar/322551 ^@ NM_001045.5(SLC6A4):c.-499G>C http://identifiers.org/clinvar/324583 ^@ NM_014336.4(AIPL1):c.*1178C>T http://identifiers.org/clinvar/324585 ^@ NM_014336.4(AIPL1):c.*1018G>A http://identifiers.org/clinvar/322553 ^@ NM_000267.3(NF1):c.-322G>A http://identifiers.org/clinvar/322558 ^@ NM_000267.3(NF1):c.-237C>T http://identifiers.org/clinvar/322559 ^@ NM_000267.3(NF1):c.-229C>G http://identifiers.org/clinvar/322560 ^@ NM_000267.3(NF1):c.-209C>A http://identifiers.org/clinvar/322565 ^@ NM_000267.3(NF1):c.-73G>T http://identifiers.org/clinvar/324591 ^@ NM_014336.4(AIPL1):c.*753G>A http://identifiers.org/clinvar/322569 ^@ NM_000267.3(NF1):c.1444A>G (p.Thr482Ala) http://identifiers.org/clinvar/322584 ^@ NM_000267.3(NF1):c.*871delA http://identifiers.org/clinvar/338653 ^@ NM_000311.4(PRNP):c.*4A>T http://identifiers.org/clinvar/322587 ^@ NM_000267.3(NF1):c.*875T>A http://identifiers.org/clinvar/338659 ^@ NM_000311.4(PRNP):c.*358C>A http://identifiers.org/clinvar/324592 ^@ NM_014336.4(AIPL1):c.*748C>T http://identifiers.org/clinvar/338661 ^@ NM_000311.4(PRNP):c.*592T>C http://identifiers.org/clinvar/338665 ^@ NM_000311.4(PRNP):c.*800C>T http://identifiers.org/clinvar/322589 ^@ NM_000267.3(NF1):c.*1202A>C http://identifiers.org/clinvar/338666 ^@ NM_000311.4(PRNP):c.*874C>T http://identifiers.org/clinvar/324600 ^@ NM_014336.4(AIPL1):c.*153_*154delCA http://identifiers.org/clinvar/338671 ^@ NM_000311.4(PRNP):c.*1193G>A http://identifiers.org/clinvar/324609 ^@ NM_014336.4(AIPL1):c.*33A>C http://identifiers.org/clinvar/338679 ^@ NM_006420.2(ARFGEF2):c.-43G>A http://identifiers.org/clinvar/324613 ^@ NM_014336.4(AIPL1):c.780C>T (p.His260=) http://identifiers.org/clinvar/322593 ^@ NM_000267.3(NF1):c.*1987C>T http://identifiers.org/clinvar/324616 ^@ NM_014336.4(AIPL1):c.639C>T (p.Thr213=) http://identifiers.org/clinvar/338681 ^@ NM_006420.2(ARFGEF2):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/324618 ^@ NM_014336.4(AIPL1):c.414C>T (p.Asp138=) http://identifiers.org/clinvar/338682 ^@ NM_006420.2(ARFGEF2):c.847G>A (p.Asp283Asn) http://identifiers.org/clinvar/322594 ^@ NM_000267.3(NF1):c.*2071G>A http://identifiers.org/clinvar/324622 ^@ NM_014336.4(AIPL1):c.97-15C>T http://identifiers.org/clinvar/324626 ^@ NM_014336.4(AIPL1):c.-73A>G http://identifiers.org/clinvar/338683 ^@ NM_006420.2(ARFGEF2):c.1030A>C (p.Arg344=) http://identifiers.org/clinvar/338686 ^@ NM_006420.2(ARFGEF2):c.1294A>G (p.Ile432Val) http://identifiers.org/clinvar/322597 ^@ NM_000267.3(NF1):c.*2201G>A http://identifiers.org/clinvar/338691 ^@ NM_006420.2(ARFGEF2):c.2071-10T>C http://identifiers.org/clinvar/322598 ^@ NM_000267.3(NF1):c.*2215_*2219delGTAGT http://identifiers.org/clinvar/338696 ^@ NM_006420.2(ARFGEF2):c.3507T>G (p.Leu1169=) http://identifiers.org/clinvar/322632 ^@ NM_000049.2(ASPA):c.-105T>C http://identifiers.org/clinvar/338708 ^@ NM_006420.2(ARFGEF2):c.*32G>T http://identifiers.org/clinvar/324560 ^@ NM_007215.3(POLG2):c.496C>G (p.Gln166Glu) http://identifiers.org/clinvar/324565 ^@ NM_007215.3(POLG2):c.-85C>T http://identifiers.org/clinvar/322611 ^@ NM_002878.3(RAD51D):c.*875_*878delCAGA http://identifiers.org/clinvar/322613 ^@ NM_002878.3(RAD51D):c.*710G>A http://identifiers.org/clinvar/338724 ^@ NM_006420.2(ARFGEF2):c.*1603A>G http://identifiers.org/clinvar/322614 ^@ NM_002878.3(RAD51D):c.*555A>G http://identifiers.org/clinvar/338725 ^@ NM_006420.2(ARFGEF2):c.*1608T>C http://identifiers.org/clinvar/324566 ^@ NM_007215.3(POLG2):c.-87G>A http://identifiers.org/clinvar/338733 ^@ NM_006420.2(ARFGEF2):c.*2067G>C http://identifiers.org/clinvar/324656 ^@ NM_031220.3(PITPNM3):c.*3706G>C http://identifiers.org/clinvar/338734 ^@ NM_006420.2(ARFGEF2):c.*2240A>C http://identifiers.org/clinvar/338736 ^@ NM_006420.2(ARFGEF2):c.*2518A>G http://identifiers.org/clinvar/322615 ^@ NM_002878.3(RAD51D):c.*433_*434delCT http://identifiers.org/clinvar/322622 ^@ NM_002878.3(RAD51D):c.*106G>A http://identifiers.org/clinvar/338744 ^@ NM_006420.2(ARFGEF2):c.*2805_*2807delAAC http://identifiers.org/clinvar/338741 ^@ NM_006420.2(ARFGEF2):c.*2806dupA http://identifiers.org/clinvar/322673 ^@ NM_145068.3(TRPV3):c.*3308_*3309dupTG http://identifiers.org/clinvar/338749 ^@ NM_003859.2(DPM1):c.*191A>G http://identifiers.org/clinvar/322674 ^@ NM_145068.3(TRPV3):c.*3307G>A http://identifiers.org/clinvar/322675 ^@ NM_145068.3(TRPV3):c.*3295G>C http://identifiers.org/clinvar/338756 ^@ NM_003859.2(DPM1):c.84G>C (p.Ser28=) http://identifiers.org/clinvar/324658 ^@ NM_031220.3(PITPNM3):c.*3561G>A http://identifiers.org/clinvar/338762 ^@ NM_020436.4(SALL4):c.3149T>C (p.Ile1050Thr) http://identifiers.org/clinvar/324659 ^@ NM_031220.3(PITPNM3):c.*3555delA http://identifiers.org/clinvar/338765 ^@ NM_020436.4(SALL4):c.2493A>G (p.Arg831=) http://identifiers.org/clinvar/322696 ^@ NM_145068.3(TRPV3):c.*2272T>C http://identifiers.org/clinvar/338766 ^@ NM_020436.4(SALL4):c.2462-12T>C http://identifiers.org/clinvar/338769 ^@ NM_020436.4(SALL4):c.2262G>A (p.Val754=) http://identifiers.org/clinvar/338771 ^@ NM_020436.4(SALL4):c.2162C>T (p.Thr721Met) http://identifiers.org/clinvar/322699 ^@ NM_145068.3(TRPV3):c.*2115G>A http://identifiers.org/clinvar/322703 ^@ NM_145068.3(TRPV3):c.*2072A>C http://identifiers.org/clinvar/324660 ^@ NM_031220.3(PITPNM3):c.*3541C>T http://identifiers.org/clinvar/322705 ^@ NM_145068.3(TRPV3):c.*2054A>T http://identifiers.org/clinvar/338773 ^@ NM_020436.4(SALL4):c.1950C>T (p.Gly650=) http://identifiers.org/clinvar/322625 ^@ NM_002878.3(RAD51D):c.-38G>T http://identifiers.org/clinvar/324661 ^@ NM_031220.3(PITPNM3):c.*3509C>T http://identifiers.org/clinvar/324663 ^@ NM_031220.3(PITPNM3):c.*3464delG http://identifiers.org/clinvar/322626 ^@ NM_002878.3(RAD51D):c.-73G>A http://identifiers.org/clinvar/324662 ^@ NM_031220.3(PITPNM3):c.*3464dupG http://identifiers.org/clinvar/338786 ^@ NM_020436.4(SALL4):c.216C>T (p.His72=) http://identifiers.org/clinvar/338858 ^@ NM_144773.3(PROKR2):c.585G>C (p.Thr195=) http://identifiers.org/clinvar/338859 ^@ NM_144773.3(PROKR2):c.465C>T (p.Leu155=) http://identifiers.org/clinvar/322627 ^@ NM_002878.3(RAD51D):c.-139C>T http://identifiers.org/clinvar/324666 ^@ NM_031220.3(PITPNM3):c.*3456_*3457insT http://identifiers.org/clinvar/324670 ^@ NM_031220.3(PITPNM3):c.*3452_*3453delCG http://identifiers.org/clinvar/324674 ^@ NM_031220.3(PITPNM3):c.*3452C>G http://identifiers.org/clinvar/324678 ^@ NM_031220.3(PITPNM3):c.*3371C>T http://identifiers.org/clinvar/338862 ^@ NM_144773.3(PROKR2):c.337T>C (p.Tyr113His) http://identifiers.org/clinvar/338864 ^@ NM_144773.3(PROKR2):c.253C>G (p.Arg85Gly) http://identifiers.org/clinvar/322708 ^@ NM_145068.3(TRPV3):c.*1940T>G http://identifiers.org/clinvar/338865 ^@ NM_144773.3(PROKR2):c.151G>A (p.Ala51Thr) http://identifiers.org/clinvar/324685 ^@ NM_031220.3(PITPNM3):c.*3132T>A http://identifiers.org/clinvar/324699 ^@ NM_031220.3(PITPNM3):c.*2336_*2337delAA http://identifiers.org/clinvar/322710 ^@ NM_145068.3(TRPV3):c.*1790G>C http://identifiers.org/clinvar/322714 ^@ NM_145068.3(TRPV3):c.*1591_*1592insC http://identifiers.org/clinvar/338793 ^@ NM_000782.4(CYP24A1):c.*885T>G http://identifiers.org/clinvar/322720 ^@ NM_145068.3(TRPV3):c.*1533A>C http://identifiers.org/clinvar/322721 ^@ NM_145068.3(TRPV3):c.*1485G>A http://identifiers.org/clinvar/338794 ^@ NM_000782.4(CYP24A1):c.*872C>T http://identifiers.org/clinvar/324700 ^@ NM_031220.3(PITPNM3):c.*2336A>G http://identifiers.org/clinvar/324709 ^@ NM_031220.3(PITPNM3):c.*2210_*2213delAGAG http://identifiers.org/clinvar/324712 ^@ NM_031220.3(PITPNM3):c.*2183_*2184delAA http://identifiers.org/clinvar/324714 ^@ NM_031220.3(PITPNM3):c.*2061C>T http://identifiers.org/clinvar/322722 ^@ NM_145068.3(TRPV3):c.*1424G>A http://identifiers.org/clinvar/322730 ^@ NM_145068.3(TRPV3):c.*940G>A http://identifiers.org/clinvar/322739 ^@ NM_145068.3(TRPV3):c.*132G>C http://identifiers.org/clinvar/324730 ^@ NM_031220.3(PITPNM3):c.*674G>A http://identifiers.org/clinvar/338796 ^@ NM_000782.4(CYP24A1):c.*748G>A http://identifiers.org/clinvar/322744 ^@ NM_145068.3(TRPV3):c.*74G>C http://identifiers.org/clinvar/322745 ^@ NM_145068.3(TRPV3):c.*66_*67delTG http://identifiers.org/clinvar/324740 ^@ NM_031220.3(PITPNM3):c.*34dupG http://identifiers.org/clinvar/338799 ^@ NM_000782.4(CYP24A1):c.*698_*699dupGT http://identifiers.org/clinvar/322746 ^@ NM_145068.3(TRPV3):c.*63C>G http://identifiers.org/clinvar/324742 ^@ NM_031220.3(PITPNM3):c.2746T>G (p.Phe916Val) http://identifiers.org/clinvar/338809 ^@ NM_000782.4(CYP24A1):c.*51G>A http://identifiers.org/clinvar/322747 ^@ NM_145068.3(TRPV3):c.*58C>T http://identifiers.org/clinvar/322752 ^@ NM_145068.3(TRPV3):c.2331T>C (p.Asn777=) http://identifiers.org/clinvar/338811 ^@ NM_000782.4(CYP24A1):c.1527C>T (p.Ile509=) http://identifiers.org/clinvar/338812 ^@ NM_000782.4(CYP24A1):c.1449C>T (p.Tyr483=) http://identifiers.org/clinvar/324749 ^@ NM_031220.3(PITPNM3):c.1773+7C>T http://identifiers.org/clinvar/338813 ^@ NM_000782.4(CYP24A1):c.1361C>T (p.Pro454Leu) http://identifiers.org/clinvar/322754 ^@ NM_145068.3(TRPV3):c.2279-15T>A http://identifiers.org/clinvar/338814 ^@ NM_000782.4(CYP24A1):c.1207G>A (p.Val403Ile) http://identifiers.org/clinvar/322764 ^@ NM_145068.3(TRPV3):c.1654G>A (p.Val552Met) http://identifiers.org/clinvar/324750 ^@ NM_031220.3(PITPNM3):c.1671C>T (p.Tyr557=) http://identifiers.org/clinvar/338819 ^@ NM_000782.4(CYP24A1):c.1020C>T (p.Tyr340=) http://identifiers.org/clinvar/338844 ^@ NM_000782.4(CYP24A1):c.-94A>G http://identifiers.org/clinvar/322768 ^@ NM_145068.3(TRPV3):c.1503+13C>G http://identifiers.org/clinvar/322770 ^@ NM_145068.3(TRPV3):c.1419G>C (p.Leu473Phe) http://identifiers.org/clinvar/324752 ^@ NM_031220.3(PITPNM3):c.1477C>T (p.Arg493Trp) http://identifiers.org/clinvar/322773 ^@ NM_145068.3(TRPV3):c.1243-4C>T http://identifiers.org/clinvar/324761 ^@ NM_031220.3(PITPNM3):c.541G>A (p.Val181Ile) http://identifiers.org/clinvar/322774 ^@ NM_145068.3(TRPV3):c.1236C>T (p.Asn412=) http://identifiers.org/clinvar/338846 ^@ NM_000782.4(CYP24A1):c.-135C>T http://identifiers.org/clinvar/324764 ^@ NM_031220.3(PITPNM3):c.351+15G>A http://identifiers.org/clinvar/322795 ^@ NM_145068.3(TRPV3):c.270G>A (p.Gln90=) http://identifiers.org/clinvar/324767 ^@ NM_031220.3(PITPNM3):c.243G>A (p.Pro81=) http://identifiers.org/clinvar/322797 ^@ NM_145068.3(TRPV3):c.119+10G>A http://identifiers.org/clinvar/324770 ^@ NM_031220.3(PITPNM3):c.62G>A (p.Arg21Gln) http://identifiers.org/clinvar/324771 ^@ NM_031220.3(PITPNM3):c.36G>A (p.Pro12=) http://identifiers.org/clinvar/324628 ^@ NM_004655.3(AXIN2):c.*1136T>G http://identifiers.org/clinvar/324630 ^@ NM_004655.3(AXIN2):c.*1012T>A http://identifiers.org/clinvar/322799 ^@ NM_145068.3(TRPV3):c.73A>G (p.Ile25Val) http://identifiers.org/clinvar/322640 ^@ NM_000286.2(PEX12):c.*569_*570delTT http://identifiers.org/clinvar/324640 ^@ NM_004655.3(AXIN2):c.*220A>G http://identifiers.org/clinvar/324644 ^@ NM_004655.3(AXIN2):c.2124G>A (p.Ser708=) http://identifiers.org/clinvar/322641 ^@ NM_000286.2(PEX12):c.*569T>A http://identifiers.org/clinvar/338847 ^@ NM_000782.4(CYP24A1):c.-148T>C http://identifiers.org/clinvar/322644 ^@ NM_000286.2(PEX12):c.*519A>G http://identifiers.org/clinvar/324692 ^@ NM_004655.3(AXIN2):c.-237G>C http://identifiers.org/clinvar/338848 ^@ NM_000782.4(CYP24A1):c.-154T>G http://identifiers.org/clinvar/322649 ^@ NM_000286.2(PEX12):c.*335T>C http://identifiers.org/clinvar/322653 ^@ NM_000286.2(PEX12):c.353T>C (p.Met118Thr) http://identifiers.org/clinvar/322656 ^@ NM_000286.2(PEX12):c.-108A>G http://identifiers.org/clinvar/322663 ^@ NM_000286.2(PEX12):c.-428T>C http://identifiers.org/clinvar/338849 ^@ NM_000782.4(CYP24A1):c.-307G>T http://identifiers.org/clinvar/338850 ^@ NM_000782.4(CYP24A1):c.-385G>A http://identifiers.org/clinvar/322664 ^@ NM_000286.2(PEX12):c.-434A>C http://identifiers.org/clinvar/322665 ^@ NM_000286.2(PEX12):c.-495C>T http://identifiers.org/clinvar/338867 ^@ NM_002591.3(PCK1):c.-54C>T http://identifiers.org/clinvar/322812 ^@ NM_145068.3(TRPV3):c.-279T>C http://identifiers.org/clinvar/338868 ^@ NM_002591.3(PCK1):c.69A>G (p.Leu23=) http://identifiers.org/clinvar/324777 ^@ NM_002734.4(PRKAR1A):c.-53C>T http://identifiers.org/clinvar/338870 ^@ NM_002591.3(PCK1):c.141C>T (p.Asp47=) http://identifiers.org/clinvar/322816 ^@ NM_004937.2(CTNS):c.-497C>T http://identifiers.org/clinvar/322829 ^@ NM_004937.2(CTNS):c.-47A>C http://identifiers.org/clinvar/338882 ^@ NM_002591.3(PCK1):c.799A>G (p.Ile267Val) http://identifiers.org/clinvar/338889 ^@ NM_002591.3(PCK1):c.1140T>C (p.Gly380=) http://identifiers.org/clinvar/324779 ^@ NM_002734.4(PRKAR1A):c.-16C>A http://identifiers.org/clinvar/322831 ^@ NM_004937.2(CTNS):c.-21_-20delAG http://identifiers.org/clinvar/338902 ^@ NM_002591.3(PCK1):c.*357_*358delAT http://identifiers.org/clinvar/338913 ^@ NM_002591.3(PCK1):c.*359G>A http://identifiers.org/clinvar/324792 ^@ NM_002734.4(PRKAR1A):c.*672T>C http://identifiers.org/clinvar/322835 ^@ NM_004937.2(CTNS):c.108C>T (p.Asn36=) http://identifiers.org/clinvar/322838 ^@ NM_004937.2(CTNS):c.363C>T (p.Ser121=) http://identifiers.org/clinvar/322841 ^@ NM_004937.2(CTNS):c.694C>T (p.Arg232Cys) http://identifiers.org/clinvar/324794 ^@ NM_002734.4(PRKAR1A):c.*722A>G http://identifiers.org/clinvar/324798 ^@ NM_002734.4(PRKAR1A):c.*812A>C http://identifiers.org/clinvar/324803 ^@ NM_002734.4(PRKAR1A):c.*1062A>G http://identifiers.org/clinvar/324809 ^@ NM_002734.4(PRKAR1A):c.*1487C>T http://identifiers.org/clinvar/324810 ^@ NM_002734.4(PRKAR1A):c.*1606A>G http://identifiers.org/clinvar/322842 ^@ NM_004937.2(CTNS):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/338915 ^@ NM_002591.3(PCK1):c.*365G>A http://identifiers.org/clinvar/338911 ^@ NM_002591.3(PCK1):c.*388_*393delTGTGTG http://identifiers.org/clinvar/322845 ^@ NM_004937.2(CTNS):c.1008T>G (p.Phe336Leu) http://identifiers.org/clinvar/322847 ^@ NM_004937.2(CTNS):c.*16T>C http://identifiers.org/clinvar/324814 ^@ NM_002734.4(PRKAR1A):c.*1839G>A http://identifiers.org/clinvar/324817 ^@ NM_002734.4(PRKAR1A):c.*2067T>C http://identifiers.org/clinvar/338909 ^@ NM_002591.3(PCK1):c.*392_*393dupTG http://identifiers.org/clinvar/322851 ^@ NM_004937.2(CTNS):c.*280G>A http://identifiers.org/clinvar/338918 ^@ NM_004738.4(VAPB):c.-292G>C http://identifiers.org/clinvar/322852 ^@ NM_004937.2(CTNS):c.*405G>A http://identifiers.org/clinvar/322854 ^@ NM_004937.2(CTNS):c.*421T>C http://identifiers.org/clinvar/322860 ^@ NM_004937.2(CTNS):c.*627T>C http://identifiers.org/clinvar/322867 ^@ NM_004937.2(CTNS):c.*851G>A http://identifiers.org/clinvar/324825 ^@ NM_000891.2(KCNJ2):c.-228C>T http://identifiers.org/clinvar/324826 ^@ NM_000891.2(KCNJ2):c.-195C>G http://identifiers.org/clinvar/322868 ^@ NM_004937.2(CTNS):c.*871G>C http://identifiers.org/clinvar/322871 ^@ NM_004937.2(CTNS):c.*1024C>T http://identifiers.org/clinvar/324833 ^@ NM_000891.2(KCNJ2):c.*79C>T http://identifiers.org/clinvar/324835 ^@ NM_000891.2(KCNJ2):c.*124G>A http://identifiers.org/clinvar/322872 ^@ NM_004937.2(CTNS):c.*1025A>G http://identifiers.org/clinvar/338919 ^@ NM_004738.4(VAPB):c.-283A>C http://identifiers.org/clinvar/324836 ^@ NM_000891.2(KCNJ2):c.*136G>A http://identifiers.org/clinvar/322875 ^@ NM_004937.2(CTNS):c.*1047dupG http://identifiers.org/clinvar/324845 ^@ NM_000891.2(KCNJ2):c.*732T>G http://identifiers.org/clinvar/324846 ^@ NM_000891.2(KCNJ2):c.*766C>T http://identifiers.org/clinvar/338921 ^@ NM_004738.4(VAPB):c.-192_-187dupGCCCTC http://identifiers.org/clinvar/322882 ^@ NM_004937.2(CTNS):c.*1165C>T http://identifiers.org/clinvar/322885 ^@ NM_004937.2(CTNS):c.*1176C>G http://identifiers.org/clinvar/324847 ^@ NM_000891.2(KCNJ2):c.*832G>A http://identifiers.org/clinvar/322883 ^@ NM_004937.2(CTNS):c.*1176_*1177delCT http://identifiers.org/clinvar/322888 ^@ NM_004937.2(CTNS):c.*1336G>A http://identifiers.org/clinvar/324855 ^@ NM_000891.2(KCNJ2):c.*1350G>A http://identifiers.org/clinvar/324858 ^@ NM_000891.2(KCNJ2):c.*1440A>T http://identifiers.org/clinvar/338923 ^@ NM_004738.4(VAPB):c.-159_-158insC http://identifiers.org/clinvar/338925 ^@ NM_004738.4(VAPB):c.-149dupC http://identifiers.org/clinvar/324860 ^@ NM_000891.2(KCNJ2):c.*1631C>G http://identifiers.org/clinvar/324867 ^@ NM_000891.2(KCNJ2):c.*1719_*1721dupTTT http://identifiers.org/clinvar/338931 ^@ NM_004738.4(VAPB):c.479_481delCTT (p.Ser160del) http://identifiers.org/clinvar/322892 ^@ NM_004937.2(CTNS):c.*1440A>G http://identifiers.org/clinvar/338933 ^@ NM_004738.4(VAPB):c.618C>T (p.Ser206=) http://identifiers.org/clinvar/322893 ^@ NM_004937.2(CTNS):c.*1472G>A http://identifiers.org/clinvar/338934 ^@ NM_004738.4(VAPB):c.*75G>A http://identifiers.org/clinvar/324869 ^@ NM_000891.2(KCNJ2):c.*1815G>A http://identifiers.org/clinvar/338938 ^@ NM_004738.4(VAPB):c.*596C>T http://identifiers.org/clinvar/322895 ^@ NM_004937.2(CTNS):c.*1578C>G http://identifiers.org/clinvar/324871 ^@ NM_000891.2(KCNJ2):c.*2262C>T http://identifiers.org/clinvar/324872 ^@ NM_000891.2(KCNJ2):c.*2270G>T http://identifiers.org/clinvar/322896 ^@ NM_004937.2(CTNS):c.*1595C>T http://identifiers.org/clinvar/338940 ^@ NM_004738.4(VAPB):c.*726A>G http://identifiers.org/clinvar/322898 ^@ NM_004937.2(CTNS):c.*1665A>G http://identifiers.org/clinvar/324873 ^@ NM_000891.2(KCNJ2):c.*2277C>T http://identifiers.org/clinvar/322904 ^@ NM_004937.2(CTNS):c.*1957dupA http://identifiers.org/clinvar/324874 ^@ NM_000891.2(KCNJ2):c.*2483G>A http://identifiers.org/clinvar/322908 ^@ NM_004937.2(CTNS):c.*2115G>A http://identifiers.org/clinvar/338941 ^@ NM_004738.4(VAPB):c.*753C>G http://identifiers.org/clinvar/324880 ^@ NM_000891.2(KCNJ2):c.*2774_*2775delTT http://identifiers.org/clinvar/338942 ^@ NM_004738.4(VAPB):c.*884A>G http://identifiers.org/clinvar/322910 ^@ NM_004937.2(CTNS):c.*2127G>A http://identifiers.org/clinvar/322912 ^@ NM_004937.2(CTNS):c.*2195G>A http://identifiers.org/clinvar/324879 ^@ NM_000891.2(KCNJ2):c.*2775dupT http://identifiers.org/clinvar/324885 ^@ NM_000891.2(KCNJ2):c.*2776delG http://identifiers.org/clinvar/338943 ^@ NM_004738.4(VAPB):c.*937G>C http://identifiers.org/clinvar/324886 ^@ NM_000891.2(KCNJ2):c.*2812T>C http://identifiers.org/clinvar/338948 ^@ NM_004738.4(VAPB):c.*1335C>T http://identifiers.org/clinvar/324888 ^@ NM_000891.2(KCNJ2):c.*2893C>T http://identifiers.org/clinvar/324898 ^@ NM_000891.2(KCNJ2):c.*3618A>G http://identifiers.org/clinvar/322922 ^@ NM_004937.2(CTNS):c.*2593A>T http://identifiers.org/clinvar/322929 ^@ NM_000458.3(HNF1B):c.*789T>C http://identifiers.org/clinvar/322934 ^@ NM_000458.3(HNF1B):c.*585T>C http://identifiers.org/clinvar/324903 ^@ NM_000346.3(SOX9):c.-156T>A http://identifiers.org/clinvar/324904 ^@ NM_000346.3(SOX9):c.-133C>A http://identifiers.org/clinvar/322935 ^@ NM_000458.3(HNF1B):c.*445A>G http://identifiers.org/clinvar/322936 ^@ NM_000458.3(HNF1B):c.*444A= http://identifiers.org/clinvar/322937 ^@ NM_000458.3(HNF1B):c.*403A>G http://identifiers.org/clinvar/322940 ^@ NM_000458.3(HNF1B):c.*100A= http://identifiers.org/clinvar/338957 ^@ NM_004738.4(VAPB):c.*1919A>G http://identifiers.org/clinvar/338959 ^@ NM_004738.4(VAPB):c.*2320T>A http://identifiers.org/clinvar/322946 ^@ NM_000458.3(HNF1B):c.1418A>G (p.Gln473Arg) http://identifiers.org/clinvar/338962 ^@ NM_004738.4(VAPB):c.*2748A>C http://identifiers.org/clinvar/324914 ^@ NM_000346.3(SOX9):c.914G>C (p.Gly305Ala) http://identifiers.org/clinvar/324920 ^@ NM_000346.3(SOX9):c.1503C>T (p.Pro501=) http://identifiers.org/clinvar/338965 ^@ NM_004738.4(VAPB):c.*3020A>G http://identifiers.org/clinvar/338969 ^@ NM_004738.4(VAPB):c.*3134G>T http://identifiers.org/clinvar/322963 ^@ NM_001004334.3(GPR179):c.7080T>G (p.Thr2360=) http://identifiers.org/clinvar/324935 ^@ NM_000346.3(SOX9):c.*932_*933delAA http://identifiers.org/clinvar/324940 ^@ NM_000346.3(SOX9):c.*1167delC http://identifiers.org/clinvar/324946 ^@ NM_000346.3(SOX9):c.*1832C>T http://identifiers.org/clinvar/338970 ^@ NM_004738.4(VAPB):c.*3192T>C http://identifiers.org/clinvar/338977 ^@ NM_004738.4(VAPB):c.*3566A>T http://identifiers.org/clinvar/324979 ^@ NM_000018.3(ACADVL):c.-132C>T http://identifiers.org/clinvar/338979 ^@ NM_004738.4(VAPB):c.*3725T>C http://identifiers.org/clinvar/322970 ^@ NM_001004334.3(GPR179):c.6351G>A (p.Trp2117Ter) http://identifiers.org/clinvar/324982 ^@ NM_000018.3(ACADVL):c.109C>T (p.Arg37Trp) http://identifiers.org/clinvar/324984 ^@ NM_000018.3(ACADVL):c.205-8C>G http://identifiers.org/clinvar/322975 ^@ NM_001004334.3(GPR179):c.5975G>A (p.Gly1992Asp) http://identifiers.org/clinvar/338982 ^@ NM_004738.4(VAPB):c.*3822C>G http://identifiers.org/clinvar/322977 ^@ NM_001004334.3(GPR179):c.5927G>A (p.Arg1976His) http://identifiers.org/clinvar/338984 ^@ NM_004738.4(VAPB):c.*3942C>T http://identifiers.org/clinvar/322989 ^@ NM_001004334.3(GPR179):c.3900A>T (p.Ile1300=) http://identifiers.org/clinvar/338985 ^@ NM_004738.4(VAPB):c.*4052C>T http://identifiers.org/clinvar/324993 ^@ NM_000018.3(ACADVL):c.1297T>C (p.Cys433Arg) http://identifiers.org/clinvar/338993 ^@ NM_004738.4(VAPB):c.*4418C>T http://identifiers.org/clinvar/324996 ^@ NM_000018.3(ACADVL):c.1824C>T (p.Ile608=) http://identifiers.org/clinvar/324999 ^@ NM_000018.3(ACADVL):c.*53C>T http://identifiers.org/clinvar/322990 ^@ NM_001004334.3(GPR179):c.3881G>A (p.Arg1294Gln) http://identifiers.org/clinvar/322994 ^@ NM_001004334.3(GPR179):c.3699G= (p.Leu1233=) http://identifiers.org/clinvar/324951 ^@ NM_018714.2(COG1):c.-27A>G http://identifiers.org/clinvar/338995 ^@ NM_004738.4(VAPB):c.*4520T>C http://identifiers.org/clinvar/324954 ^@ NM_018714.2(COG1):c.26C>T (p.Ala9Val) http://identifiers.org/clinvar/324958 ^@ NM_018714.2(COG1):c.265C>T (p.Arg89Cys) http://identifiers.org/clinvar/322995 ^@ NM_001004334.3(GPR179):c.3656_3657delCT (p.Pro1219Argfs) http://identifiers.org/clinvar/323000 ^@ NM_001004334.3(GPR179):c.3426C>T (p.Ala1142=) http://identifiers.org/clinvar/324960 ^@ NM_018714.2(COG1):c.315+8C>T http://identifiers.org/clinvar/324964 ^@ NM_018714.2(COG1):c.838C>A (p.Leu280Met) http://identifiers.org/clinvar/338996 ^@ NM_004738.4(VAPB):c.*4559A>G http://identifiers.org/clinvar/338999 ^@ NM_004738.4(VAPB):c.*4923A>G http://identifiers.org/clinvar/324965 ^@ NM_018714.2(COG1):c.967C>A (p.His323Asn) http://identifiers.org/clinvar/339007 ^@ NM_004738.4(VAPB):c.*5352C>T http://identifiers.org/clinvar/339015 ^@ NM_004738.4(VAPB):c.*5826G>A http://identifiers.org/clinvar/324970 ^@ NM_018714.2(COG1):c.1318A>G (p.Ser440Gly) http://identifiers.org/clinvar/324972 ^@ NM_018714.2(COG1):c.2605G>A (p.Val869Met) http://identifiers.org/clinvar/323006 ^@ NM_001004334.3(GPR179):c.2895G>A (p.Leu965=) http://identifiers.org/clinvar/323007 ^@ NM_001004334.3(GPR179):c.2809G>A (p.Val937Ile) http://identifiers.org/clinvar/339018 ^@ NM_004738.4(VAPB):c.*6121_*6124delCTGT http://identifiers.org/clinvar/324976 ^@ NM_018714.2(COG1):c.2752A>G (p.Met918Val) http://identifiers.org/clinvar/339019 ^@ NM_004738.4(VAPB):c.*6182C>T http://identifiers.org/clinvar/325000 ^@ NM_023036.4(DNAI2):c.-72_-63delAGCCGCGACC http://identifiers.org/clinvar/323008 ^@ NM_001004334.3(GPR179):c.2650C>T (p.Arg884Trp) http://identifiers.org/clinvar/339021 ^@ NM_004738.4(VAPB):c.*6257delT http://identifiers.org/clinvar/325002 ^@ NM_023036.4(DNAI2):c.-21C>A http://identifiers.org/clinvar/339023 ^@ NM_004738.4(VAPB):c.*6466_*6467delGT http://identifiers.org/clinvar/323009 ^@ NM_001004334.3(GPR179):c.2604G>C (p.Glu868Asp) http://identifiers.org/clinvar/339025 ^@ NM_004738.4(VAPB):c.*6619G>A http://identifiers.org/clinvar/323013 ^@ NM_001004334.3(GPR179):c.2040C>T (p.Asp680=) http://identifiers.org/clinvar/323014 ^@ NM_001004334.3(GPR179):c.2022C>T (p.Asp674=) http://identifiers.org/clinvar/323016 ^@ NM_001004334.3(GPR179):c.1784+9G>A http://identifiers.org/clinvar/323018 ^@ NM_001004334.3(GPR179):c.1723C>T (p.Arg575Cys) http://identifiers.org/clinvar/323020 ^@ NM_001004334.3(GPR179):c.1589G>A (p.Ser530Asn) http://identifiers.org/clinvar/323021 ^@ NM_001004334.3(GPR179):c.1417C>T (p.Leu473=) http://identifiers.org/clinvar/325006 ^@ NM_023036.4(DNAI2):c.134A>G (p.Asn45Ser) http://identifiers.org/clinvar/339029 ^@ NM_001001433.2(STX16):c.-744T>C http://identifiers.org/clinvar/325007 ^@ NM_023036.4(DNAI2):c.318C>T (p.Tyr106=) http://identifiers.org/clinvar/325010 ^@ NM_023036.4(DNAI2):c.565C>T (p.Arg189Trp) http://identifiers.org/clinvar/323022 ^@ NM_001004334.3(GPR179):c.1388T>A (p.Ile463Asn) http://identifiers.org/clinvar/323027 ^@ NM_001004334.3(GPR179):c.973G>A (p.Gly325Arg) http://identifiers.org/clinvar/325011 ^@ NM_023036.4(DNAI2):c.610+12C>T http://identifiers.org/clinvar/325014 ^@ NM_023036.4(DNAI2):c.864+4C>T http://identifiers.org/clinvar/323029 ^@ NM_001004334.3(GPR179):c.880C>T (p.Leu294=) http://identifiers.org/clinvar/323031 ^@ NM_001004334.3(GPR179):c.725G>A (p.Arg242Gln) http://identifiers.org/clinvar/323034 ^@ NM_001004334.3(GPR179):c.657A>T (p.Gly219=) http://identifiers.org/clinvar/339033 ^@ NM_001001433.2(STX16):c.-550G>A http://identifiers.org/clinvar/323037 ^@ NM_001004334.3(GPR179):c.627C>T (p.Leu209=) http://identifiers.org/clinvar/325020 ^@ NM_023036.4(DNAI2):c.1533G>T (p.Glu511Asp) http://identifiers.org/clinvar/339038 ^@ NM_001001433.2(STX16):c.-377G>A http://identifiers.org/clinvar/323038 ^@ NM_001004334.3(GPR179):c.522C>T (p.Ile174=) http://identifiers.org/clinvar/323049 ^@ NM_003673.3(TCAP):c.*297C>T http://identifiers.org/clinvar/325027 ^@ NM_023036.4(DNAI2):c.*272C>G http://identifiers.org/clinvar/325074 ^@ NM_000747.2(CHRNB1):c.59-14C>T http://identifiers.org/clinvar/325077 ^@ NM_000747.2(CHRNB1):c.354-3C>T http://identifiers.org/clinvar/325102 ^@ NM_000747.2(CHRNB1):c.995T>G (p.Leu332Arg) http://identifiers.org/clinvar/339039 ^@ NM_001001433.2(STX16):c.-355C>T http://identifiers.org/clinvar/325109 ^@ NM_000747.2(CHRNB1):c.*68T>C http://identifiers.org/clinvar/325112 ^@ NM_000747.2(CHRNB1):c.*281T>C http://identifiers.org/clinvar/323051 ^@ NM_001254.3(CDC6):c.-36T>G http://identifiers.org/clinvar/339043 ^@ NM_001001433.2(STX16):c.106C>A (p.Pro36Thr) http://identifiers.org/clinvar/339047 ^@ NM_001001433.2(STX16):c.394-7C>T http://identifiers.org/clinvar/325114 ^@ NM_000747.2(CHRNB1):c.*749C>T http://identifiers.org/clinvar/323055 ^@ NM_001254.3(CDC6):c.597C>G (p.Tyr199Ter) http://identifiers.org/clinvar/339048 ^@ NM_001001433.2(STX16):c.443G>A (p.Arg148Gln) http://identifiers.org/clinvar/323060 ^@ NM_001254.3(CDC6):c.1581C>G (p.Thr527=) http://identifiers.org/clinvar/339063 ^@ NM_001001433.2(STX16):c.*183G>T http://identifiers.org/clinvar/325115 ^@ NM_000747.2(CHRNB1):c.*755A>C http://identifiers.org/clinvar/325028 ^@ NM_173477.4(USH1G):c.*1987C>T http://identifiers.org/clinvar/339071 ^@ NM_001001433.2(STX16):c.*1203T>C http://identifiers.org/clinvar/323062 ^@ NM_001254.3(CDC6):c.*353T>G http://identifiers.org/clinvar/323064 ^@ NM_001254.3(CDC6):c.*358G>T http://identifiers.org/clinvar/339078 ^@ NM_001001433.2(STX16):c.*1725A>T http://identifiers.org/clinvar/339081 ^@ NM_001001433.2(STX16):c.*1785A>G http://identifiers.org/clinvar/325030 ^@ NM_173477.4(USH1G):c.*1900G>C http://identifiers.org/clinvar/323063 ^@ NM_001254.3(CDC6):c.*367_*369delGTT http://identifiers.org/clinvar/325031 ^@ NM_173477.4(USH1G):c.*1732C>T http://identifiers.org/clinvar/323067 ^@ NM_001254.3(CDC6):c.*653C>A http://identifiers.org/clinvar/323071 ^@ NM_002274.3(KRT13):c.*258C>T http://identifiers.org/clinvar/325034 ^@ NM_173477.4(USH1G):c.*1303C>T http://identifiers.org/clinvar/325042 ^@ NM_173477.4(USH1G):c.*1018G>A http://identifiers.org/clinvar/323077 ^@ NM_002274.3(KRT13):c.1227C>T (p.Leu409=) http://identifiers.org/clinvar/323079 ^@ NM_002274.3(KRT13):c.1133G>A (p.Arg378His) http://identifiers.org/clinvar/323089 ^@ NM_002274.3(KRT13):c.766G>A (p.Gly256Ser) http://identifiers.org/clinvar/339082 ^@ NM_001001433.2(STX16):c.*1790A>T http://identifiers.org/clinvar/339084 ^@ NM_001001433.2(STX16):c.*1863C>A http://identifiers.org/clinvar/323090 ^@ NM_002274.3(KRT13):c.765C>T (p.Val255=) http://identifiers.org/clinvar/339093 ^@ NM_001001433.2(STX16):c.*2183G>A http://identifiers.org/clinvar/325043 ^@ NM_173477.4(USH1G):c.*809C>A http://identifiers.org/clinvar/325045 ^@ NM_173477.4(USH1G):c.*553A>C http://identifiers.org/clinvar/339100 ^@ NM_001001433.2(STX16):c.*2363_*2366dupAAAA http://identifiers.org/clinvar/339099 ^@ NM_001001433.2(STX16):c.*2364_*2366dupAAA http://identifiers.org/clinvar/323099 ^@ NM_002274.3(KRT13):c.496-9A>G http://identifiers.org/clinvar/325046 ^@ NM_173477.4(USH1G):c.*498G>A http://identifiers.org/clinvar/323101 ^@ NM_002274.3(KRT13):c.437C>G (p.Ala146Gly) http://identifiers.org/clinvar/323103 ^@ NM_002274.3(KRT13):c.409C>T (p.Arg137Cys) http://identifiers.org/clinvar/323112 ^@ NM_000226.3(KRT9):c.*103C>G http://identifiers.org/clinvar/325049 ^@ NM_173477.4(USH1G):c.*202G>A http://identifiers.org/clinvar/339102 ^@ NM_001001433.2(STX16):c.*2475T>C http://identifiers.org/clinvar/325055 ^@ NM_173477.4(USH1G):c.478C>G (p.Arg160Gly) http://identifiers.org/clinvar/339104 ^@ NM_001001433.2(STX16):c.*2499C>T http://identifiers.org/clinvar/339106 ^@ NM_001001433.2(STX16):c.*2594T>C http://identifiers.org/clinvar/325062 ^@ NM_021734.4(SLC25A19):c.*274C>G http://identifiers.org/clinvar/323125 ^@ NM_000226.3(KRT9):c.1315C>T (p.Leu439Phe) http://identifiers.org/clinvar/323130 ^@ NM_000226.3(KRT9):c.1045-9G>A http://identifiers.org/clinvar/325064 ^@ NM_021734.4(SLC25A19):c.*113G>C http://identifiers.org/clinvar/323145 ^@ NM_000226.3(KRT9):c.-50C>T http://identifiers.org/clinvar/323146 ^@ NM_000226.3(KRT9):c.-57T>C http://identifiers.org/clinvar/323148 ^@ NM_002230.2(JUP):c.*771G>C http://identifiers.org/clinvar/323149 ^@ NM_002230.2(JUP):c.*709G>C http://identifiers.org/clinvar/339107 ^@ NM_001001433.2(STX16):c.*2627G>C http://identifiers.org/clinvar/339118 ^@ NM_207034.2(EDN3):c.-85G>A http://identifiers.org/clinvar/325065 ^@ NM_021734.4(SLC25A19):c.930C>A (p.Phe310Leu) http://identifiers.org/clinvar/339122 ^@ NM_207034.2(EDN3):c.257A>G (p.Glu86Gly) http://identifiers.org/clinvar/325070 ^@ NM_021734.4(SLC25A19):c.-153_-150delAGAG http://identifiers.org/clinvar/323163 ^@ NM_002230.2(JUP):c.2087-5C>T http://identifiers.org/clinvar/325071 ^@ NM_021734.4(SLC25A19):c.-201T>A http://identifiers.org/clinvar/323168 ^@ NM_002230.2(JUP):c.1718A>T (p.Asp573Val) http://identifiers.org/clinvar/339132 ^@ NM_207034.2(EDN3):c.*139_*140delAC http://identifiers.org/clinvar/325080 ^@ NM_207346.2(TSEN54):c.13C>T (p.Pro5Ser) http://identifiers.org/clinvar/323171 ^@ NM_002230.2(JUP):c.708-12C>G http://identifiers.org/clinvar/323178 ^@ NM_021939.3(FKBP10):c.-207C>T http://identifiers.org/clinvar/325081 ^@ NM_207346.2(TSEN54):c.285+9C>G http://identifiers.org/clinvar/325083 ^@ NM_207346.2(TSEN54):c.286-8C>T http://identifiers.org/clinvar/325086 ^@ NM_207346.2(TSEN54):c.692C>T (p.Pro231Leu) http://identifiers.org/clinvar/325090 ^@ NM_207346.2(TSEN54):c.1070C>T (p.Ala357Val) http://identifiers.org/clinvar/323182 ^@ NM_021939.3(FKBP10):c.505C>G (p.Arg169Gly) http://identifiers.org/clinvar/323183 ^@ NM_021939.3(FKBP10):c.520G>A (p.Gly174Ser) http://identifiers.org/clinvar/325100 ^@ NM_207346.2(TSEN54):c.*169T>C http://identifiers.org/clinvar/339138 ^@ NM_207034.2(EDN3):c.*146C>T http://identifiers.org/clinvar/339139 ^@ NM_207034.2(EDN3):c.*147C>G http://identifiers.org/clinvar/323184 ^@ NM_021939.3(FKBP10):c.573C>T (p.Phe191=) http://identifiers.org/clinvar/325122 ^@ NM_001005731.2(ITGB4):c.282C>T (p.Thr94=) http://identifiers.org/clinvar/339141 ^@ NM_207034.2(EDN3):c.*177C>A http://identifiers.org/clinvar/323186 ^@ NM_021939.3(FKBP10):c.732A>G (p.Thr244=) http://identifiers.org/clinvar/339142 ^@ NM_207034.2(EDN3):c.*355A>G http://identifiers.org/clinvar/325126 ^@ NM_001005731.2(ITGB4):c.738+3G>A http://identifiers.org/clinvar/339143 ^@ NM_207034.2(EDN3):c.*531A>G http://identifiers.org/clinvar/323187 ^@ NM_021939.3(FKBP10):c.825C>A (p.Leu275=) http://identifiers.org/clinvar/323188 ^@ NM_021939.3(FKBP10):c.984G>A (p.Gln328=) http://identifiers.org/clinvar/323195 ^@ NM_021939.3(FKBP10):c.1723G>A (p.Glu575Lys) http://identifiers.org/clinvar/339146 ^@ NM_207034.2(EDN3):c.*586G>A http://identifiers.org/clinvar/339148 ^@ NM_207034.2(EDN3):c.*679A>G http://identifiers.org/clinvar/323199 ^@ NM_021939.3(FKBP10):c.*421_*422invCC http://identifiers.org/clinvar/325127 ^@ NM_001005731.2(ITGB4):c.1002+12A>G http://identifiers.org/clinvar/323203 ^@ NM_021939.3(FKBP10):c.*610_*612delCCT http://identifiers.org/clinvar/339152 ^@ NM_207034.2(EDN3):c.*904A>G http://identifiers.org/clinvar/325133 ^@ NM_001005731.2(ITGB4):c.1179G>A (p.Thr393=) http://identifiers.org/clinvar/325135 ^@ NM_001005731.2(ITGB4):c.1201C>T (p.Arg401Trp) http://identifiers.org/clinvar/325138 ^@ NM_001005731.2(ITGB4):c.1377+7C>T http://identifiers.org/clinvar/325139 ^@ NM_001005731.2(ITGB4):c.1377+15C>T http://identifiers.org/clinvar/339156 ^@ NM_207034.2(EDN3):c.*1012C>T http://identifiers.org/clinvar/325149 ^@ NM_001005731.2(ITGB4):c.1749C>T (p.Ile583=) http://identifiers.org/clinvar/339158 ^@ NM_207034.2(EDN3):c.*1147A>G http://identifiers.org/clinvar/339166 ^@ NM_017671.4(FERMT1):c.*2204T>C http://identifiers.org/clinvar/325151 ^@ NM_001005731.2(ITGB4):c.1821G>A (p.Ser607=) http://identifiers.org/clinvar/325153 ^@ NM_001005731.2(ITGB4):c.1893C>G (p.Ser631=) http://identifiers.org/clinvar/339167 ^@ NM_017671.4(FERMT1):c.*2127dupA http://identifiers.org/clinvar/339168 ^@ NM_017671.4(FERMT1):c.*2124_*2125delCA http://identifiers.org/clinvar/325160 ^@ NM_001005731.2(ITGB4):c.2123C>T (p.Pro708Leu) http://identifiers.org/clinvar/339174 ^@ NM_017671.4(FERMT1):c.*2069T>C http://identifiers.org/clinvar/323207 ^@ NM_139276.2(STAT3):c.*2340dupT http://identifiers.org/clinvar/323208 ^@ NM_139276.2(STAT3):c.*2255G>T http://identifiers.org/clinvar/323210 ^@ NM_139276.2(STAT3):c.*2144C>T http://identifiers.org/clinvar/325164 ^@ NM_001005731.2(ITGB4):c.2625C>T (p.Ala875=) http://identifiers.org/clinvar/325165 ^@ NM_001005731.2(ITGB4):c.2634-8C>T http://identifiers.org/clinvar/339179 ^@ NM_017671.4(FERMT1):c.*1472G>A http://identifiers.org/clinvar/325171 ^@ NM_001005731.2(ITGB4):c.2886G>A (p.Val962=) http://identifiers.org/clinvar/325181 ^@ NM_001005731.2(ITGB4):c.3624C>T (p.Ser1208=) http://identifiers.org/clinvar/325182 ^@ NM_001005731.2(ITGB4):c.3655+10C>T http://identifiers.org/clinvar/325183 ^@ NM_001005731.2(ITGB4):c.3729G>A (p.Pro1243=) http://identifiers.org/clinvar/323212 ^@ NM_139276.2(STAT3):c.*1931A>G http://identifiers.org/clinvar/339188 ^@ NM_017671.4(FERMT1):c.*1035C>T http://identifiers.org/clinvar/339192 ^@ NM_017671.4(FERMT1):c.*932C>T http://identifiers.org/clinvar/325187 ^@ NM_001005731.2(ITGB4):c.3976+15G>C http://identifiers.org/clinvar/323213 ^@ NM_139276.2(STAT3):c.*1853A>G http://identifiers.org/clinvar/339194 ^@ NM_017671.4(FERMT1):c.*896G>C http://identifiers.org/clinvar/323227 ^@ NM_139276.2(STAT3):c.*1196T>C http://identifiers.org/clinvar/339197 ^@ NM_017671.4(FERMT1):c.*438C>T http://identifiers.org/clinvar/323230 ^@ NM_139276.2(STAT3):c.*894delG http://identifiers.org/clinvar/323231 ^@ NM_139276.2(STAT3):c.*893dupA http://identifiers.org/clinvar/325193 ^@ NM_001005731.2(ITGB4):c.4234C>T (p.Leu1412=) http://identifiers.org/clinvar/325194 ^@ NM_001005731.2(ITGB4):c.4299G>A (p.Ser1433=) http://identifiers.org/clinvar/323235 ^@ NM_139276.2(STAT3):c.*584T>G http://identifiers.org/clinvar/325197 ^@ NM_001005731.2(ITGB4):c.4388G>A (p.Arg1463His) http://identifiers.org/clinvar/325198 ^@ NM_001005731.2(ITGB4):c.4453C>T (p.Arg1485Trp) http://identifiers.org/clinvar/323243 ^@ NM_139276.2(STAT3):c.1854C>T (p.Gly618=) http://identifiers.org/clinvar/323247 ^@ NM_139276.2(STAT3):c.657T>C (p.Ser219=) http://identifiers.org/clinvar/325201 ^@ NM_001005731.2(ITGB4):c.4585C>T (p.Arg1529Cys) http://identifiers.org/clinvar/325202 ^@ NM_001005731.2(ITGB4):c.4619G>A (p.Arg1540Gln) http://identifiers.org/clinvar/323250 ^@ NM_139276.2(STAT3):c.-140C>T http://identifiers.org/clinvar/339199 ^@ NM_017671.4(FERMT1):c.*251C>G http://identifiers.org/clinvar/339201 ^@ NM_017671.4(FERMT1):c.*194G>A http://identifiers.org/clinvar/325203 ^@ NM_001005731.2(ITGB4):c.4692C>G (p.Ser1564=) http://identifiers.org/clinvar/323251 ^@ NM_139276.2(STAT3):c.-162A>G http://identifiers.org/clinvar/323257 ^@ NM_012232.5(CAVIN1):c.*1788C>G http://identifiers.org/clinvar/325204 ^@ NM_001005731.2(ITGB4):c.4727C>T (p.Pro1576Leu) http://identifiers.org/clinvar/325205 ^@ NM_001005731.2(ITGB4):c.4803C>T (p.Ile1601=) http://identifiers.org/clinvar/323258 ^@ NM_012232.5(CAVIN1):c.*1749T>C http://identifiers.org/clinvar/323264 ^@ NM_012232.5(CAVIN1):c.*1232G>A http://identifiers.org/clinvar/339207 ^@ NM_017671.4(FERMT1):c.1861-8T>C http://identifiers.org/clinvar/339212 ^@ NM_017671.4(FERMT1):c.1594-6G>A http://identifiers.org/clinvar/325206 ^@ NM_001005731.2(ITGB4):c.4843+10A>G http://identifiers.org/clinvar/339213 ^@ NM_017671.4(FERMT1):c.1575_1577delAAGinsGAA (p.Arg526Lys) http://identifiers.org/clinvar/323266 ^@ NM_012232.5(CAVIN1):c.*906G>A http://identifiers.org/clinvar/339217 ^@ NM_017671.4(FERMT1):c.1264+14A>G http://identifiers.org/clinvar/323269 ^@ NM_012232.5(CAVIN1):c.*703T>A http://identifiers.org/clinvar/323278 ^@ NM_012232.5(CAVIN1):c.836C>G (p.Thr279Arg) http://identifiers.org/clinvar/325218 ^@ NM_001005731.2(ITGB4):c.*4C>T http://identifiers.org/clinvar/339218 ^@ NM_017671.4(FERMT1):c.1153C>T (p.Leu385=) http://identifiers.org/clinvar/325219 ^@ NM_000213.4(ITGB4):c.*25C>T http://identifiers.org/clinvar/339221 ^@ NM_017671.4(FERMT1):c.1014C>T (p.Ser338=) http://identifiers.org/clinvar/339228 ^@ NM_017671.4(FERMT1):c.606_608delCAT (p.Met203del) http://identifiers.org/clinvar/339229 ^@ NM_017671.4(FERMT1):c.532+8T>C http://identifiers.org/clinvar/325221 ^@ NM_001005731.2(ITGB4):c.*58G>A http://identifiers.org/clinvar/325225 ^@ NM_000154.1(GALK1):c.1044C>T (p.Phe348=) http://identifiers.org/clinvar/325228 ^@ NM_000154.1(GALK1):c.856C>T (p.Arg286Trp) http://identifiers.org/clinvar/339232 ^@ NM_017671.4(FERMT1):c.240T>C (p.Tyr80=) http://identifiers.org/clinvar/339237 ^@ NM_017671.4(FERMT1):c.-28T>C http://identifiers.org/clinvar/323282 ^@ NM_000263.3(NAGLU):c.-275T>C http://identifiers.org/clinvar/323283 ^@ NM_000263.3(NAGLU):c.-271A>G http://identifiers.org/clinvar/339240 ^@ NM_017671.4(FERMT1):c.-116A>G http://identifiers.org/clinvar/339241 ^@ NM_017671.4(FERMT1):c.-136C>T http://identifiers.org/clinvar/325230 ^@ NM_000154.1(GALK1):c.787C>T (p.Leu263=) http://identifiers.org/clinvar/323285 ^@ NM_000263.3(NAGLU):c.-212G>C http://identifiers.org/clinvar/339242 ^@ NM_017671.4(FERMT1):c.-148_-146delGCC http://identifiers.org/clinvar/339244 ^@ NM_017671.4(FERMT1):c.-189C>A http://identifiers.org/clinvar/325231 ^@ NM_000154.1(GALK1):c.786G>A (p.Glu262=) http://identifiers.org/clinvar/323300 ^@ NM_000263.3(NAGLU):c.1495C>T (p.Arg499Trp) http://identifiers.org/clinvar/339246 ^@ NM_017671.4(FERMT1):c.-301C>T http://identifiers.org/clinvar/323302 ^@ NM_000263.3(NAGLU):c.1662C>T (p.Pro554=) http://identifiers.org/clinvar/323303 ^@ NM_000263.3(NAGLU):c.1781C>T (p.Ala594Val) http://identifiers.org/clinvar/339255 ^@ NM_017671.4(FERMT1):c.-609G>A http://identifiers.org/clinvar/323305 ^@ NM_000263.3(NAGLU):c.1906G>A (p.Asp636Asn) http://identifiers.org/clinvar/339256 ^@ NM_017671.4(FERMT1):c.-644G>C http://identifiers.org/clinvar/325235 ^@ NM_000154.1(GALK1):c.-44C>T http://identifiers.org/clinvar/325237 ^@ NM_199242.2(UNC13D):c.*326C>T http://identifiers.org/clinvar/323306 ^@ NM_000263.3(NAGLU):c.2157G>A (p.Pro719=) http://identifiers.org/clinvar/323308 ^@ NM_032387.4(WNK4):c.-22C>T http://identifiers.org/clinvar/339260 ^@ NM_017671.4(FERMT1):c.-692A>G http://identifiers.org/clinvar/323311 ^@ NM_032387.4(WNK4):c.47C>T (p.Thr16Ile) http://identifiers.org/clinvar/323321 ^@ NM_032387.4(WNK4):c.1572G>T (p.Leu524=) http://identifiers.org/clinvar/325246 ^@ NM_199242.2(UNC13D):c.2830+7G>A http://identifiers.org/clinvar/325248 ^@ NM_199242.2(UNC13D):c.2665C>G (p.Arg889Gly) http://identifiers.org/clinvar/339266 ^@ NM_001853.3(COL9A3):c.148-5C>T http://identifiers.org/clinvar/323324 ^@ NM_032387.4(WNK4):c.1653C>T (p.Pro551=) http://identifiers.org/clinvar/339268 ^@ NM_001853.3(COL9A3):c.209C>T (p.Pro70Leu) http://identifiers.org/clinvar/325249 ^@ NM_199242.2(UNC13D):c.2554-11A>G http://identifiers.org/clinvar/339274 ^@ NM_001853.3(COL9A3):c.609A>T (p.Glu203Asp) http://identifiers.org/clinvar/323326 ^@ NM_032387.4(WNK4):c.1719C>T (p.His573=) http://identifiers.org/clinvar/339276 ^@ NM_001853.3(COL9A3):c.631-13C>G http://identifiers.org/clinvar/339279 ^@ NM_001853.3(COL9A3):c.873C>T (p.Pro291=) http://identifiers.org/clinvar/339285 ^@ NM_001853.3(COL9A3):c.1160C>T (p.Ala387Val) http://identifiers.org/clinvar/323329 ^@ NM_032387.4(WNK4):c.1827A>G (p.Pro609=) http://identifiers.org/clinvar/323333 ^@ NM_032387.4(WNK4):c.1888T>C (p.Ser630Pro) http://identifiers.org/clinvar/325252 ^@ NM_199242.2(UNC13D):c.2341G>A (p.Val781Ile) http://identifiers.org/clinvar/325254 ^@ NM_199242.2(UNC13D):c.2242G>A (p.Ala748Thr) http://identifiers.org/clinvar/323339 ^@ NM_032387.4(WNK4):c.2369C>A (p.Thr790Asn) http://identifiers.org/clinvar/339288 ^@ NM_001853.3(COL9A3):c.1258C>G (p.Gln420Glu) http://identifiers.org/clinvar/323342 ^@ NM_032387.4(WNK4):c.2672C>T (p.Thr891Met) http://identifiers.org/clinvar/323349 ^@ NM_032387.4(WNK4):c.3022+3A>G http://identifiers.org/clinvar/339294 ^@ NM_001853.3(COL9A3):c.1458C>T (p.Ser486=) http://identifiers.org/clinvar/323352 ^@ NM_032387.4(WNK4):c.3518C>A (p.Pro1173Gln) http://identifiers.org/clinvar/323353 ^@ NM_032387.4(WNK4):c.3523A>G (p.Ile1175Val) http://identifiers.org/clinvar/325255 ^@ NM_199242.2(UNC13D):c.2241C>T (p.Ser747=) http://identifiers.org/clinvar/339299 ^@ NM_001853.3(COL9A3):c.1604-13T>C http://identifiers.org/clinvar/325256 ^@ NM_199242.2(UNC13D):c.2180G>A (p.Arg727Gln) http://identifiers.org/clinvar/325260 ^@ NM_199242.2(UNC13D):c.1759C>T (p.Arg587Cys) http://identifiers.org/clinvar/339303 ^@ NM_001853.3(COL9A3):c.1692C>T (p.Pro564=) http://identifiers.org/clinvar/325262 ^@ NM_199242.2(UNC13D):c.1596+15C>G http://identifiers.org/clinvar/339306 ^@ NM_001853.3(COL9A3):c.1776C>T (p.Pro592=) http://identifiers.org/clinvar/325265 ^@ NM_199242.2(UNC13D):c.1216G>A (p.Gly406Ser) http://identifiers.org/clinvar/339307 ^@ NM_001853.3(COL9A3):c.1786+12A>G http://identifiers.org/clinvar/323355 ^@ NM_032387.4(WNK4):c.3610C>T (p.Arg1204Cys) http://identifiers.org/clinvar/325266 ^@ NM_199242.2(UNC13D):c.1204C>T (p.Leu402=) http://identifiers.org/clinvar/323366 ^@ NM_000151.3(G6PC):c.*119C>T http://identifiers.org/clinvar/325508 ^@ NM_004870.3(MPDU1):c.-182G>C http://identifiers.org/clinvar/339313 ^@ NM_001853.3(COL9A3):c.*134G>A http://identifiers.org/clinvar/325511 ^@ NM_004870.3(MPDU1):c.-73A>G http://identifiers.org/clinvar/339316 ^@ NM_001853.3(COL9A3):c.*228A>C http://identifiers.org/clinvar/339318 ^@ NM_001853.3(COL9A3):c.*302A>G http://identifiers.org/clinvar/323369 ^@ NM_000151.3(G6PC):c.*286A>G http://identifiers.org/clinvar/325271 ^@ NM_199242.2(UNC13D):c.683+4C>T http://identifiers.org/clinvar/339329 ^@ NM_172107.3(KCNQ2):c.2252C>T (p.Ser751Leu) http://identifiers.org/clinvar/325274 ^@ NM_199242.2(UNC13D):c.197G>T (p.Arg66Leu) http://identifiers.org/clinvar/323373 ^@ NM_000151.3(G6PC):c.*703G>A http://identifiers.org/clinvar/323374 ^@ NM_000151.3(G6PC):c.*714A>G http://identifiers.org/clinvar/325280 ^@ NM_199242.2(UNC13D):c.-158C>T http://identifiers.org/clinvar/325289 ^@ NM_199242.2(UNC13D):c.-347G>A http://identifiers.org/clinvar/339330 ^@ NM_172107.3(KCNQ2):c.2209G>A (p.Gly737Ser) http://identifiers.org/clinvar/323377 ^@ NM_000151.3(G6PC):c.*877T>C http://identifiers.org/clinvar/339333 ^@ NM_172107.3(KCNQ2):c.900C>T (p.Ile300=) http://identifiers.org/clinvar/339335 ^@ NM_172107.3(KCNQ2):c.741G>A (p.Ser247=) http://identifiers.org/clinvar/323380 ^@ NM_000151.3(G6PC):c.*1039G>T http://identifiers.org/clinvar/325514 ^@ NM_004870.3(MPDU1):c.121C>G (p.Leu41Val) http://identifiers.org/clinvar/323384 ^@ NM_000151.3(G6PC):c.*1304G>A http://identifiers.org/clinvar/325516 ^@ NM_004870.3(MPDU1):c.411C>T (p.Tyr137=) http://identifiers.org/clinvar/339341 ^@ NM_172107.3(KCNQ2):c.-107G>A http://identifiers.org/clinvar/339347 ^@ NM_025219.2(DNAJC5):c.-185G>T http://identifiers.org/clinvar/323385 ^@ NM_000151.3(G6PC):c.*1313A>G http://identifiers.org/clinvar/325298 ^@ NM_004035.6(ACOX1):c.*5000G>T http://identifiers.org/clinvar/339348 ^@ NM_025219.2(DNAJC5):c.-160_-155dupGTGCCG http://identifiers.org/clinvar/339350 ^@ NM_025219.2(DNAJC5):c.-122_-120dupGCC http://identifiers.org/clinvar/323388 ^@ NM_000151.3(G6PC):c.*1513C>T http://identifiers.org/clinvar/323397 ^@ NM_000151.3(G6PC):c.*2133C>T http://identifiers.org/clinvar/323398 ^@ NM_000151.3(G6PC):c.*2134G>A http://identifiers.org/clinvar/339353 ^@ NM_025219.2(DNAJC5):c.-95G>C http://identifiers.org/clinvar/323401 ^@ NM_000151.3(G6PC):c.*2519G>T http://identifiers.org/clinvar/325302 ^@ NM_004035.6(ACOX1):c.*4579C>T http://identifiers.org/clinvar/325305 ^@ NM_004035.6(ACOX1):c.*4490A>G http://identifiers.org/clinvar/339354 ^@ NM_025219.2(DNAJC5):c.-89C>G http://identifiers.org/clinvar/339367 ^@ NM_025219.2(DNAJC5):c.*322G>A http://identifiers.org/clinvar/323403 ^@ NM_000151.3(G6PC):c.*2611C>T http://identifiers.org/clinvar/339377 ^@ NM_025219.2(DNAJC5):c.*895C>G http://identifiers.org/clinvar/339381 ^@ NM_025219.2(DNAJC5):c.*1137A>G http://identifiers.org/clinvar/325307 ^@ NM_004035.6(ACOX1):c.*4444G>A http://identifiers.org/clinvar/323404 ^@ NM_000151.3(G6PC):c.*2687delT http://identifiers.org/clinvar/325308 ^@ NM_004035.6(ACOX1):c.*4440C>T http://identifiers.org/clinvar/339382 ^@ NM_025219.2(DNAJC5):c.*1182C>T http://identifiers.org/clinvar/325310 ^@ NM_004035.6(ACOX1):c.*4317_*4318dupTT http://identifiers.org/clinvar/325313 ^@ NM_004035.6(ACOX1):c.*4296C>A http://identifiers.org/clinvar/325311 ^@ NM_004035.6(ACOX1):c.*4296delC http://identifiers.org/clinvar/325315 ^@ NM_004035.6(ACOX1):c.*4250T>G http://identifiers.org/clinvar/325320 ^@ NM_004035.6(ACOX1):c.*3872G>A http://identifiers.org/clinvar/339388 ^@ NM_025219.2(DNAJC5):c.*1342G>A http://identifiers.org/clinvar/325327 ^@ NM_004035.6(ACOX1):c.*2969A>G http://identifiers.org/clinvar/325342 ^@ NM_004035.6(ACOX1):c.*1809A>G http://identifiers.org/clinvar/323407 ^@ NM_000151.3(G6PC):c.*2981G>T http://identifiers.org/clinvar/339389 ^@ NM_025219.2(DNAJC5):c.*1364C>T http://identifiers.org/clinvar/325343 ^@ NM_004035.6(ACOX1):c.*1782dupT http://identifiers.org/clinvar/339390 ^@ NM_025219.2(DNAJC5):c.*1391G>A http://identifiers.org/clinvar/323411 ^@ NM_007294.3(BRCA1):c.*872_*873delAA http://identifiers.org/clinvar/323412 ^@ NM_007294.3(BRCA1):c.*854_*855delCA http://identifiers.org/clinvar/325344 ^@ NM_004035.6(ACOX1):c.*1434C>T http://identifiers.org/clinvar/325355 ^@ NM_004035.6(ACOX1):c.*932T>C http://identifiers.org/clinvar/323413 ^@ NM_007294.3(BRCA1):c.*854delC http://identifiers.org/clinvar/339392 ^@ NM_025219.2(DNAJC5):c.*1433G>A http://identifiers.org/clinvar/323415 ^@ NM_007294.3(BRCA1):c.*743G>T http://identifiers.org/clinvar/323416 ^@ NM_007294.3(BRCA1):c.*693C>T http://identifiers.org/clinvar/325356 ^@ NM_004035.6(ACOX1):c.*874C>T http://identifiers.org/clinvar/325360 ^@ NM_004035.6(ACOX1):c.*720C>T http://identifiers.org/clinvar/325361 ^@ NM_004035.6(ACOX1):c.*679T>C http://identifiers.org/clinvar/339393 ^@ NM_025219.2(DNAJC5):c.*1442A>G http://identifiers.org/clinvar/325363 ^@ NM_004035.6(ACOX1):c.*660A>C http://identifiers.org/clinvar/325367 ^@ NM_004035.6(ACOX1):c.*481G>A http://identifiers.org/clinvar/339394 ^@ NM_025219.2(DNAJC5):c.*1556A>G http://identifiers.org/clinvar/323422 ^@ NM_007294.3(BRCA1):c.-22A>G http://identifiers.org/clinvar/339398 ^@ NM_025219.2(DNAJC5):c.*1643T>C http://identifiers.org/clinvar/323427 ^@ NM_025237.2(SOST):c.*1404delG http://identifiers.org/clinvar/323429 ^@ NM_025237.2(SOST):c.*1348delA http://identifiers.org/clinvar/325372 ^@ NM_004035.6(ACOX1):c.1866C>A (p.Gly622=) http://identifiers.org/clinvar/325375 ^@ NM_004035.6(ACOX1):c.1561G>T (p.Val521Phe) http://identifiers.org/clinvar/323431 ^@ NM_025237.2(SOST):c.*1176A>G http://identifiers.org/clinvar/325379 ^@ NM_004035.6(ACOX1):c.1344G>A (p.Val448=) http://identifiers.org/clinvar/325381 ^@ NM_004035.6(ACOX1):c.954A>G (p.Glu318=) http://identifiers.org/clinvar/323434 ^@ NM_025237.2(SOST):c.*562G>A http://identifiers.org/clinvar/325383 ^@ NM_004035.6(ACOX1):c.871C>T (p.Arg291Trp) http://identifiers.org/clinvar/325388 ^@ NM_004035.6(ACOX1):c.658+4A>G http://identifiers.org/clinvar/325393 ^@ NM_004035.6(ACOX1):c.-105C>G http://identifiers.org/clinvar/325396 ^@ NM_004035.6(ACOX1):c.-317G>A http://identifiers.org/clinvar/323437 ^@ NM_025237.2(SOST):c.533A>G (p.Glu178Gly) http://identifiers.org/clinvar/323460 ^@ NM_138387.3(G6PC3):c.187A>G (p.Ile63Val) http://identifiers.org/clinvar/339403 ^@ NM_025219.2(DNAJC5):c.*2191G>C http://identifiers.org/clinvar/325397 ^@ NM_024599.5(RHBDF2):c.*726T>G http://identifiers.org/clinvar/339405 ^@ NM_025219.2(DNAJC5):c.*2218A>G http://identifiers.org/clinvar/323465 ^@ NM_138387.3(G6PC3):c.407G>A (p.Arg136Gln) http://identifiers.org/clinvar/323471 ^@ NM_138387.3(G6PC3):c.*4_*6delCTT http://identifiers.org/clinvar/325399 ^@ NM_024599.5(RHBDF2):c.*702C>G http://identifiers.org/clinvar/325405 ^@ NM_024599.5(RHBDF2):c.*551G>C http://identifiers.org/clinvar/323472 ^@ NM_138387.3(G6PC3):c.*151G>C http://identifiers.org/clinvar/339410 ^@ NM_025219.2(DNAJC5):c.*2723A>G http://identifiers.org/clinvar/339422 ^@ NM_025219.2(DNAJC5):c.*3239C>T http://identifiers.org/clinvar/339439 ^@ NM_025219.2(DNAJC5):c.*4070C>G http://identifiers.org/clinvar/325407 ^@ NM_024599.5(RHBDF2):c.*536G>A http://identifiers.org/clinvar/325408 ^@ NM_024599.5(RHBDF2):c.*511G>A http://identifiers.org/clinvar/325421 ^@ NM_024599.5(RHBDF2):c.2452G>A (p.Ala818Thr) http://identifiers.org/clinvar/323480 ^@ NM_000342.3(SLC4A1):c.*1596A>C http://identifiers.org/clinvar/339441 ^@ NM_025219.2(DNAJC5):c.*4117C>T http://identifiers.org/clinvar/325423 ^@ NM_024599.5(RHBDF2):c.2248C>T (p.Leu750Phe) http://identifiers.org/clinvar/325424 ^@ NM_024599.5(RHBDF2):c.2160G>A (p.Pro720=) http://identifiers.org/clinvar/325425 ^@ NM_024599.5(RHBDF2):c.2047G>T (p.Asp683Tyr) http://identifiers.org/clinvar/339447 ^@ NM_025219.2(DNAJC5):c.*4387C>G http://identifiers.org/clinvar/323482 ^@ NM_000342.3(SLC4A1):c.*1316C>T http://identifiers.org/clinvar/323486 ^@ NM_000342.3(SLC4A1):c.*1227A>C http://identifiers.org/clinvar/325426 ^@ NM_024599.5(RHBDF2):c.1924C>T (p.Leu642=) http://identifiers.org/clinvar/323494 ^@ NM_000342.3(SLC4A1):c.*408C>T http://identifiers.org/clinvar/325429 ^@ NM_024599.5(RHBDF2):c.1896+7C>T http://identifiers.org/clinvar/323495 ^@ NM_000342.3(SLC4A1):c.*351G>T http://identifiers.org/clinvar/325431 ^@ NM_024599.5(RHBDF2):c.1726-11C>G http://identifiers.org/clinvar/323496 ^@ NM_000342.3(SLC4A1):c.*349G>A http://identifiers.org/clinvar/323502 ^@ NM_000342.3(SLC4A1):c.2482-9C>T http://identifiers.org/clinvar/325438 ^@ NM_024599.5(RHBDF2):c.1483C>T (p.Arg495Trp) http://identifiers.org/clinvar/325442 ^@ NM_024599.5(RHBDF2):c.1314+11T>C http://identifiers.org/clinvar/325445 ^@ NM_024599.5(RHBDF2):c.1036G>A (p.Gly346Arg) http://identifiers.org/clinvar/339449 ^@ NM_025219.2(DNAJC5):c.*4455C>T http://identifiers.org/clinvar/339451 ^@ NM_012469.3(PRPF6):c.-119G>A http://identifiers.org/clinvar/323503 ^@ NM_000342.3(SLC4A1):c.2243G>A (p.Gly748Glu) http://identifiers.org/clinvar/339453 ^@ NM_012469.3(PRPF6):c.-86C>T http://identifiers.org/clinvar/325446 ^@ NM_024599.5(RHBDF2):c.1033C>T (p.Pro345Ser) http://identifiers.org/clinvar/325447 ^@ NM_024599.5(RHBDF2):c.1008-15C>T http://identifiers.org/clinvar/323510 ^@ NM_000342.3(SLC4A1):c.1314G>A (p.Ser438=) http://identifiers.org/clinvar/323516 ^@ NM_000342.3(SLC4A1):c.457C>A (p.Leu153Met) http://identifiers.org/clinvar/339460 ^@ NM_012469.3(PRPF6):c.-25C>T http://identifiers.org/clinvar/325449 ^@ NM_024599.5(RHBDF2):c.791G>A (p.Arg264Gln) http://identifiers.org/clinvar/325457 ^@ NM_024599.5(RHBDF2):c.597G>A (p.Pro199=) http://identifiers.org/clinvar/323521 ^@ NM_000342.3(SLC4A1):c.-30C>T http://identifiers.org/clinvar/323523 ^@ NM_000342.3(SLC4A1):c.-65C>A http://identifiers.org/clinvar/325459 ^@ NM_024599.5(RHBDF2):c.448C>T (p.Arg150Cys) http://identifiers.org/clinvar/325466 ^@ NM_024599.5(RHBDF2):c.199G>T (p.Ala67Ser) http://identifiers.org/clinvar/325470 ^@ NM_024599.5(RHBDF2):c.-115G>A http://identifiers.org/clinvar/325473 ^@ NM_001077620.2(PRCD):c.75-10C>A http://identifiers.org/clinvar/323524 ^@ NM_000342.3(SLC4A1):c.-135G>A http://identifiers.org/clinvar/325474 ^@ NM_001077620.2(PRCD):c.75-3C>G http://identifiers.org/clinvar/323535 ^@ NM_002087.3(GRN):c.1179+6T>C http://identifiers.org/clinvar/339465 ^@ NM_012469.3(PRPF6):c.193G>A (p.Ala65Thr) http://identifiers.org/clinvar/325475 ^@ NM_001077620.2(PRCD):c.*248A>G http://identifiers.org/clinvar/339471 ^@ NM_012469.3(PRPF6):c.1186+13C>T http://identifiers.org/clinvar/323536 ^@ NM_002087.3(GRN):c.1468G>A (p.Val490Met) http://identifiers.org/clinvar/339477 ^@ NM_012469.3(PRPF6):c.1566C>T (p.Cys522=) http://identifiers.org/clinvar/323544 ^@ NM_000419.4(ITGA2B):c.2614C>A (p.Leu872Met) http://identifiers.org/clinvar/339481 ^@ NM_012469.3(PRPF6):c.2328C>T (p.Asn776=) http://identifiers.org/clinvar/339484 ^@ NM_012469.3(PRPF6):c.2460C>T (p.Leu820=) http://identifiers.org/clinvar/323551 ^@ NM_000419.4(ITGA2B):c.1815G>A (p.Pro605=) http://identifiers.org/clinvar/339488 ^@ NM_012469.3(PRPF6):c.2743G>A (p.Val915Met) http://identifiers.org/clinvar/339498 ^@ NM_015192.3(PLCB1):c.695+10C>G http://identifiers.org/clinvar/325478 ^@ NM_001077620.2(PRCD):c.*266C>T http://identifiers.org/clinvar/323553 ^@ NM_000419.4(ITGA2B):c.1627C>T (p.Arg543Trp) http://identifiers.org/clinvar/339508 ^@ NM_015192.3(PLCB1):c.2308+14G>C http://identifiers.org/clinvar/323554 ^@ NM_000419.4(ITGA2B):c.1606A>C (p.Asn536His) http://identifiers.org/clinvar/339512 ^@ NM_015192.3(PLCB1):c.2930+13A>G http://identifiers.org/clinvar/325485 ^@ NM_001077620.2(PRCD):c.*718_*719dupAG http://identifiers.org/clinvar/339526 ^@ NM_015192.3(PLCB1):c.*749G>C http://identifiers.org/clinvar/325491 ^@ NM_001077620.2(PRCD):c.*1097T>A http://identifiers.org/clinvar/325497 ^@ NM_001077620.2(PRCD):c.*1343C>T http://identifiers.org/clinvar/323556 ^@ NM_000419.4(ITGA2B):c.1439+8C>T http://identifiers.org/clinvar/323564 ^@ NM_000419.4(ITGA2B):c.671-13C>T http://identifiers.org/clinvar/325622 ^@ NM_000546.5(TP53):c.*936A>G http://identifiers.org/clinvar/325626 ^@ NM_000546.5(TP53):c.*779delC http://identifiers.org/clinvar/323565 ^@ NM_000419.4(ITGA2B):c.671-15T>C http://identifiers.org/clinvar/323573 ^@ NM_000419.4(ITGA2B):c.188+8G>A http://identifiers.org/clinvar/325628 ^@ NM_000546.5(TP53):c.*772delT http://identifiers.org/clinvar/323577 ^@ NM_213607.2(CCDC103):c.-131C>A http://identifiers.org/clinvar/323581 ^@ NM_213607.2(CCDC103):c.-11G>A http://identifiers.org/clinvar/339530 ^@ NM_015192.3(PLCB1):c.*942G>A http://identifiers.org/clinvar/339531 ^@ NM_015192.3(PLCB1):c.*961A>G http://identifiers.org/clinvar/325631 ^@ NM_000546.5(TP53):c.*735C>A http://identifiers.org/clinvar/339538 ^@ NM_015192.3(PLCB1):c.*1670C>T http://identifiers.org/clinvar/323586 ^@ NM_213607.2(CCDC103):c.*307C>A http://identifiers.org/clinvar/339542 ^@ NM_015192.3(PLCB1):c.*1871G>A http://identifiers.org/clinvar/325632 ^@ NM_000546.5(TP53):c.*626C>T http://identifiers.org/clinvar/339546 ^@ NM_015192.3(PLCB1):c.*2102_*2104delGAA http://identifiers.org/clinvar/325636 ^@ NM_000546.5(TP53):c.*548G>T http://identifiers.org/clinvar/325640 ^@ NM_000546.5(TP53):c.*346G>T http://identifiers.org/clinvar/339551 ^@ NM_015192.3(PLCB1):c.*2880A>G http://identifiers.org/clinvar/339553 ^@ NM_000933.3(PLCB4):c.226-8C>T http://identifiers.org/clinvar/323591 ^@ NM_213607.2(CCDC103):c.*789C>T http://identifiers.org/clinvar/325642 ^@ NM_000546.5(TP53):c.*205G>A http://identifiers.org/clinvar/323597 ^@ NM_002055.4(GFAP):c.*1356C>T http://identifiers.org/clinvar/323605 ^@ NM_002055.4(GFAP):c.*46G>A http://identifiers.org/clinvar/339554 ^@ NM_000933.3(PLCB4):c.462G>A (p.Leu154=) http://identifiers.org/clinvar/323607 ^@ NM_002055.4(GFAP):c.*27C>T http://identifiers.org/clinvar/339559 ^@ NM_000933.3(PLCB4):c.854-12T>A http://identifiers.org/clinvar/325646 ^@ NM_001143990.1(WRAP53):c.-1-1198G>C http://identifiers.org/clinvar/339566 ^@ NM_000933.3(PLCB4):c.1612-11T>G http://identifiers.org/clinvar/323608 ^@ NM_002055.4(GFAP):c.*16G>A http://identifiers.org/clinvar/325649 ^@ NM_018081.2(WRAP53):c.-86T>C http://identifiers.org/clinvar/325651 ^@ NM_018081.2(WRAP53):c.187G>A (p.Val63Met) http://identifiers.org/clinvar/325656 ^@ NM_018081.2(WRAP53):c.822+10G>A http://identifiers.org/clinvar/339567 ^@ NM_000933.3(PLCB4):c.1702A>G (p.Met568Val) http://identifiers.org/clinvar/339572 ^@ NM_000933.3(PLCB4):c.2016-7C>T http://identifiers.org/clinvar/325657 ^@ NM_018081.2(WRAP53):c.823-10C>T http://identifiers.org/clinvar/325658 ^@ NM_018081.2(WRAP53):c.834G>A (p.Thr278=) http://identifiers.org/clinvar/325664 ^@ NM_018081.2(WRAP53):c.1448G>A (p.Arg483His) http://identifiers.org/clinvar/339574 ^@ NM_000933.3(PLCB4):c.2118+9C>G http://identifiers.org/clinvar/339575 ^@ NM_000933.3(PLCB4):c.2119-4A>G http://identifiers.org/clinvar/323609 ^@ NM_002055.4(GFAP):c.1236C>A (p.Thr412=) http://identifiers.org/clinvar/339576 ^@ NM_000933.3(PLCB4):c.2295G>C (p.Pro765=) http://identifiers.org/clinvar/323613 ^@ NM_002055.4(GFAP):c.848A>G (p.Asn283Ser) http://identifiers.org/clinvar/323618 ^@ NM_002055.4(GFAP):c.547C>T (p.Arg183Cys) http://identifiers.org/clinvar/325534 ^@ NM_006640.4(SEPT9):c.-306C>T http://identifiers.org/clinvar/325538 ^@ NM_006640.4(SEPT9):c.104G>A (p.Arg35Gln) http://identifiers.org/clinvar/339582 ^@ NM_000933.3(PLCB4):c.2640C>T (p.Thr880=) http://identifiers.org/clinvar/325547 ^@ NM_006640.4(SEPT9):c.546C>T (p.Thr182=) http://identifiers.org/clinvar/323621 ^@ NM_002055.4(GFAP):c.462-11C>T http://identifiers.org/clinvar/339585 ^@ NM_000933.3(PLCB4):c.2844+14C>A http://identifiers.org/clinvar/323622 ^@ NM_002055.4(GFAP):c.381C>T (p.Leu127=) http://identifiers.org/clinvar/325556 ^@ NM_006640.4(SEPT9):c.989-4G>A http://identifiers.org/clinvar/339589 ^@ NM_000933.3(PLCB4):c.3009G>A (p.Gln1003=) http://identifiers.org/clinvar/325558 ^@ NM_006640.4(SEPT9):c.1071-5C>T http://identifiers.org/clinvar/339596 ^@ NM_000933.3(PLCB4):c.*64T>A http://identifiers.org/clinvar/323626 ^@ NM_002055.4(GFAP):c.313C>T (p.Arg105Trp) http://identifiers.org/clinvar/323632 ^@ NM_005910.5(MAPT):c.-314G>A http://identifiers.org/clinvar/323635 ^@ NM_005910.5(MAPT):c.-245C>T http://identifiers.org/clinvar/323649 ^@ NM_005910.5(MAPT):c.1281G>A (p.Thr427=) http://identifiers.org/clinvar/323662 ^@ NM_005910.5(MAPT):c.*670G>A http://identifiers.org/clinvar/325559 ^@ NM_006640.4(SEPT9):c.1194C>T (p.Pro398=) http://identifiers.org/clinvar/339610 ^@ NM_000933.3(PLCB4):c.*1104G>T http://identifiers.org/clinvar/325563 ^@ NM_006640.4(SEPT9):c.1423-9G>A http://identifiers.org/clinvar/325565 ^@ NM_006640.4(SEPT9):c.1519+10G>A http://identifiers.org/clinvar/325566 ^@ NM_006640.4(SEPT9):c.1520-10C>T http://identifiers.org/clinvar/325573 ^@ NM_006640.4(SEPT9):c.*6A>G http://identifiers.org/clinvar/323664 ^@ NM_005910.5(MAPT):c.*844C>T http://identifiers.org/clinvar/323666 ^@ NM_005910.5(MAPT):c.*1039C>T http://identifiers.org/clinvar/323671 ^@ NM_005910.5(MAPT):c.*1108G>T http://identifiers.org/clinvar/323675 ^@ NM_005910.5(MAPT):c.*1328A>C http://identifiers.org/clinvar/323677 ^@ NM_005910.5(MAPT):c.*1404T>C http://identifiers.org/clinvar/325575 ^@ NM_006640.4(SEPT9):c.*14dupC http://identifiers.org/clinvar/323678 ^@ NM_005910.5(MAPT):c.*1464C>T http://identifiers.org/clinvar/323680 ^@ NM_005910.5(MAPT):c.*1603C>A http://identifiers.org/clinvar/325582 ^@ NM_006640.4(SEPT9):c.*207G>A http://identifiers.org/clinvar/325583 ^@ NM_006640.4(SEPT9):c.*260C>T http://identifiers.org/clinvar/325584 ^@ NM_006640.4(SEPT9):c.*283C>T http://identifiers.org/clinvar/323685 ^@ NM_005910.5(MAPT):c.*1889T>G http://identifiers.org/clinvar/323689 ^@ NM_005910.5(MAPT):c.*1933_*1936delAAAG http://identifiers.org/clinvar/339612 ^@ NM_000933.3(PLCB4):c.*1353A>C http://identifiers.org/clinvar/323692 ^@ NM_005910.5(MAPT):c.*2251C>T http://identifiers.org/clinvar/339618 ^@ NM_000933.3(PLCB4):c.*1766G>A http://identifiers.org/clinvar/339623 ^@ NM_000484.3(APP):c.*735G>A http://identifiers.org/clinvar/323694 ^@ NM_005910.5(MAPT):c.*2288T>C http://identifiers.org/clinvar/323695 ^@ NM_005910.5(MAPT):c.*2288_*2289invTG http://identifiers.org/clinvar/325585 ^@ NM_006640.4(SEPT9):c.*325T>C http://identifiers.org/clinvar/325588 ^@ NM_006640.4(SEPT9):c.*454G>A http://identifiers.org/clinvar/325598 ^@ NM_006640.4(SEPT9):c.*783A>G http://identifiers.org/clinvar/323706 ^@ NM_005910.5(MAPT):c.*2857G>A http://identifiers.org/clinvar/325602 ^@ NM_006640.4(SEPT9):c.*903C>T http://identifiers.org/clinvar/325603 ^@ NM_006640.4(SEPT9):c.*939A>G http://identifiers.org/clinvar/339626 ^@ NM_000484.3(APP):c.*97C>A http://identifiers.org/clinvar/339633 ^@ NM_000484.3(APP):c.1689T>C (p.Asp563=) http://identifiers.org/clinvar/339635 ^@ NM_000484.3(APP):c.1642C>G (p.Leu548Val) http://identifiers.org/clinvar/339637 ^@ NM_000484.3(APP):c.1458+9C>T http://identifiers.org/clinvar/323709 ^@ NM_005910.5(MAPT):c.*2956T>C http://identifiers.org/clinvar/323721 ^@ NM_005910.5(MAPT):c.*3435T>C http://identifiers.org/clinvar/323729 ^@ NM_005910.5(MAPT):c.*4154T>C http://identifiers.org/clinvar/323733 ^@ NM_001193466.1(KANSL1):c.*1434T>C http://identifiers.org/clinvar/325610 ^@ NM_006640.4(SEPT9):c.*1292G>A http://identifiers.org/clinvar/323746 ^@ NM_001193466.1(KANSL1):c.*1027C>G http://identifiers.org/clinvar/339642 ^@ NM_000484.3(APP):c.674T>C (p.Val225Ala) http://identifiers.org/clinvar/323755 ^@ NM_001193466.1(KANSL1):c.*608C>G http://identifiers.org/clinvar/325613 ^@ NM_006640.4(SEPT9):c.*1639C>G http://identifiers.org/clinvar/339644 ^@ NM_000484.3(APP):c.602C>T (p.Ala201Val) http://identifiers.org/clinvar/339648 ^@ NM_000484.3(APP):c.237A>G (p.Glu79=) http://identifiers.org/clinvar/325665 ^@ NM_138793.3(CANT1):c.*1794T>G http://identifiers.org/clinvar/325679 ^@ NM_138793.3(CANT1):c.*919C>G http://identifiers.org/clinvar/325688 ^@ NM_138793.3(CANT1):c.*550A>C http://identifiers.org/clinvar/323757 ^@ NM_001193466.1(KANSL1):c.*388G>T http://identifiers.org/clinvar/339649 ^@ NM_000484.3(APP):c.225+14G>A http://identifiers.org/clinvar/323759 ^@ NM_001193466.1(KANSL1):c.*217C>T http://identifiers.org/clinvar/323762 ^@ NM_015443.3(KANSL1):c.3254T>C (p.Ile1085Thr) http://identifiers.org/clinvar/339651 ^@ NM_000484.3(APP):c.121C>G (p.Leu41Val) http://identifiers.org/clinvar/325692 ^@ NM_138793.3(CANT1):c.*223C>T http://identifiers.org/clinvar/325693 ^@ NM_138793.3(CANT1):c.*174G>A http://identifiers.org/clinvar/323764 ^@ NM_001193466.1(KANSL1):c.3029C>T (p.Pro1010Leu) http://identifiers.org/clinvar/323771 ^@ NM_001193466.1(KANSL1):c.2294C>T (p.Ala765Val) http://identifiers.org/clinvar/325695 ^@ NM_138793.3(CANT1):c.*57G>A http://identifiers.org/clinvar/339658 ^@ NM_000484.3(APP):c.-199G>A http://identifiers.org/clinvar/339659 ^@ NM_000484.3(APP):c.-200G>A http://identifiers.org/clinvar/323772 ^@ NM_001193466.1(KANSL1):c.2287G>T (p.Val763Leu) http://identifiers.org/clinvar/325706 ^@ NM_138793.3(CANT1):c.125G>A (p.Arg42His) http://identifiers.org/clinvar/339662 ^@ NM_000454.4(SOD1):c.-83T>C http://identifiers.org/clinvar/323784 ^@ NM_001193466.1(KANSL1):c.1162A>G (p.Ile388Val) http://identifiers.org/clinvar/323788 ^@ NM_001193466.1(KANSL1):c.701T>C (p.Val234Ala) http://identifiers.org/clinvar/339665 ^@ NM_000454.4(SOD1):c.-55C>T http://identifiers.org/clinvar/323792 ^@ NM_001193466.1(KANSL1):c.611G>T (p.Gly204Val) http://identifiers.org/clinvar/323794 ^@ NM_001193466.1(KANSL1):c.607G>C (p.Gly203Arg) http://identifiers.org/clinvar/325714 ^@ NM_138793.3(CANT1):c.-291C>T http://identifiers.org/clinvar/323796 ^@ NM_001193466.1(KANSL1):c.414T>G (p.Leu138=) http://identifiers.org/clinvar/339671 ^@ NM_178817.3(MRAP):c.-157G>A http://identifiers.org/clinvar/339674 ^@ NM_178817.3(MRAP):c.-34_-33delAG http://identifiers.org/clinvar/325717 ^@ NM_138793.3(CANT1):c.-348G>T http://identifiers.org/clinvar/323805 ^@ NM_001193466.1(KANSL1):c.-269A>T http://identifiers.org/clinvar/339679 ^@ NM_178817.3(MRAP):c.206+13G>C http://identifiers.org/clinvar/323815 ^@ NM_030753.4(WNT3):c.-29G>A http://identifiers.org/clinvar/323816 ^@ NM_030753.4(WNT3):c.-53T>A http://identifiers.org/clinvar/325721 ^@ NM_138793.3(CANT1):c.-434A>G http://identifiers.org/clinvar/323817 ^@ NM_030753.4(WNT3):c.-112T>C http://identifiers.org/clinvar/339685 ^@ NM_178817.3(MRAP):c.486C>G (p.Pro162=) http://identifiers.org/clinvar/323820 ^@ NM_004287.4(GOSR2):c.-7C>G http://identifiers.org/clinvar/323821 ^@ NM_004287.4(GOSR2):c.29+13C>T http://identifiers.org/clinvar/325762 ^@ NM_017950.3(CCDC40):c.*415G>A http://identifiers.org/clinvar/339689 ^@ NM_000628.4(IL10RB):c.-74C>A http://identifiers.org/clinvar/339691 ^@ NM_000628.4(IL10RB):c.73G>A (p.Glu25Lys) http://identifiers.org/clinvar/323822 ^@ NM_004287.4(GOSR2):c.246T>C (p.Thr82=) http://identifiers.org/clinvar/325766 ^@ NM_017950.3(CCDC40):c.*663C>T http://identifiers.org/clinvar/339694 ^@ NM_000628.4(IL10RB):c.484G>A (p.Gly162Ser) http://identifiers.org/clinvar/323824 ^@ NM_004287.4(GOSR2):c.363C>T (p.Asp121=) http://identifiers.org/clinvar/325769 ^@ NM_000152.4(GAA):c.-260G>C http://identifiers.org/clinvar/325776 ^@ NM_000152.4(GAA):c.257C>G (p.Pro86Arg) http://identifiers.org/clinvar/325777 ^@ NM_000152.4(GAA):c.395G>C (p.Ser132Thr) http://identifiers.org/clinvar/339704 ^@ NM_000628.4(IL10RB):c.*546G>A http://identifiers.org/clinvar/325781 ^@ NM_000152.4(GAA):c.752C>T (p.Ser251Leu) http://identifiers.org/clinvar/325787 ^@ NM_000152.4(GAA):c.1320G>C (p.Met440Ile) http://identifiers.org/clinvar/325790 ^@ NM_000152.4(GAA):c.2151C>T (p.His717=) http://identifiers.org/clinvar/323828 ^@ NM_004287.4(GOSR2):c.*288_*296dupGGCTTTGTT http://identifiers.org/clinvar/323835 ^@ NM_004287.4(GOSR2):c.*1067G>A http://identifiers.org/clinvar/339709 ^@ NM_000628.4(IL10RB):c.*719G>A http://identifiers.org/clinvar/339712 ^@ NM_000628.4(IL10RB):c.*816T>C http://identifiers.org/clinvar/325801 ^@ NM_000152.4(GAA):c.*128T>C http://identifiers.org/clinvar/325807 ^@ NM_000152.4(GAA):c.*443G>A http://identifiers.org/clinvar/323843 ^@ NM_004287.4(GOSR2):c.*1679A>G http://identifiers.org/clinvar/323849 ^@ NM_004287.4(GOSR2):c.*2194_*2195delTC http://identifiers.org/clinvar/325808 ^@ NM_000152.4(GAA):c.*521A>G http://identifiers.org/clinvar/325809 ^@ NM_000199.3(SGSH):c.*1098G>A http://identifiers.org/clinvar/325817 ^@ NM_000199.3(SGSH):c.*501C>T http://identifiers.org/clinvar/339716 ^@ NM_172201.1(KCNE2):c.-79G>A http://identifiers.org/clinvar/339717 ^@ NM_172201.1(KCNE2):c.-52G>A http://identifiers.org/clinvar/325820 ^@ NM_000199.3(SGSH):c.*369C>T http://identifiers.org/clinvar/339722 ^@ NM_000219.5(KCNE1):c.*2480A>G http://identifiers.org/clinvar/325821 ^@ NM_000199.3(SGSH):c.*315C>T http://identifiers.org/clinvar/339727 ^@ NM_000219.5(KCNE1):c.*2194T>C http://identifiers.org/clinvar/339729 ^@ NM_000219.5(KCNE1):c.*2103C>T http://identifiers.org/clinvar/325823 ^@ NM_000199.3(SGSH):c.*201A>T http://identifiers.org/clinvar/325828 ^@ NM_000199.3(SGSH):c.1328G>A (p.Arg443Gln) http://identifiers.org/clinvar/323852 ^@ NM_004287.4(GOSR2):c.*2213G>T http://identifiers.org/clinvar/323854 ^@ NM_004287.4(GOSR2):c.*2291C>G http://identifiers.org/clinvar/339735 ^@ NM_000219.5(KCNE1):c.*1928T>C http://identifiers.org/clinvar/339739 ^@ NM_000219.5(KCNE1):c.*1831C>T http://identifiers.org/clinvar/339744 ^@ NM_000219.5(KCNE1):c.*1574C>T http://identifiers.org/clinvar/325836 ^@ NM_000199.3(SGSH):c.942C>T (p.Ser314=) http://identifiers.org/clinvar/339753 ^@ NM_000219.5(KCNE1):c.*1068A>C http://identifiers.org/clinvar/339760 ^@ NM_000219.5(KCNE1):c.*553A>G http://identifiers.org/clinvar/323855 ^@ NM_004287.4(GOSR2):c.*2292C>T http://identifiers.org/clinvar/323870 ^@ NM_000212.2(ITGB3):c.1985G>A (p.Arg662His) http://identifiers.org/clinvar/339766 ^@ NM_000219.5(KCNE1):c.*268C>T http://identifiers.org/clinvar/339768 ^@ NM_000219.5(KCNE1):c.*132A>G http://identifiers.org/clinvar/323872 ^@ NM_000212.2(ITGB3):c.2131C>T (p.Pro711Ser) http://identifiers.org/clinvar/323876 ^@ NM_000212.2(ITGB3):c.*126G>C http://identifiers.org/clinvar/339769 ^@ NM_000219.5(KCNE1):c.*124A>G http://identifiers.org/clinvar/323884 ^@ NM_000212.2(ITGB3):c.*671C>T http://identifiers.org/clinvar/339773 ^@ NM_000219.5(KCNE1):c.-13C>T http://identifiers.org/clinvar/339775 ^@ NM_000219.5(KCNE1):c.-82T>G http://identifiers.org/clinvar/339784 ^@ NM_000219.5(KCNE1):c.-432G>A http://identifiers.org/clinvar/339786 ^@ NM_000219.5(KCNE1):c.-467A>T http://identifiers.org/clinvar/325837 ^@ NM_000199.3(SGSH):c.746-4A>G http://identifiers.org/clinvar/339787 ^@ NM_000219.5(KCNE1):c.-522C>T http://identifiers.org/clinvar/325842 ^@ NM_000199.3(SGSH):c.534C>T (p.His178=) http://identifiers.org/clinvar/339791 ^@ NM_000219.5(KCNE1):c.-605G>A http://identifiers.org/clinvar/339799 ^@ NM_001754.4(RUNX1):c.*3977G>A http://identifiers.org/clinvar/325846 ^@ NM_000199.3(SGSH):c.163C>T (p.Arg55Cys) http://identifiers.org/clinvar/325849 ^@ NM_000199.3(SGSH):c.-23C>T http://identifiers.org/clinvar/325868 ^@ NM_001139.2(ALOX12B):c.*66C>T http://identifiers.org/clinvar/325872 ^@ NM_001139.2(ALOX12B):c.1756-9C>T http://identifiers.org/clinvar/323886 ^@ NM_000212.2(ITGB3):c.*699C>T http://identifiers.org/clinvar/325880 ^@ NM_001139.2(ALOX12B):c.1394G>T (p.Gly465Val) http://identifiers.org/clinvar/323887 ^@ NM_000212.2(ITGB3):c.*713A>G http://identifiers.org/clinvar/325886 ^@ NM_001139.2(ALOX12B):c.715A>G (p.Ile239Val) http://identifiers.org/clinvar/325888 ^@ NM_001139.2(ALOX12B):c.561C>T (p.Leu187=) http://identifiers.org/clinvar/323891 ^@ NM_000212.2(ITGB3):c.*1016T>A http://identifiers.org/clinvar/323894 ^@ NM_000212.2(ITGB3):c.*1331A>G http://identifiers.org/clinvar/339801 ^@ NM_001754.4(RUNX1):c.*3721A>T http://identifiers.org/clinvar/339803 ^@ NM_001754.4(RUNX1):c.*3588G>C http://identifiers.org/clinvar/339804 ^@ NM_001754.4(RUNX1):c.*3580T>G http://identifiers.org/clinvar/339809 ^@ NM_001754.4(RUNX1):c.*3380A>G http://identifiers.org/clinvar/325890 ^@ NM_001139.2(ALOX12B):c.526G>A (p.Glu176Lys) http://identifiers.org/clinvar/323904 ^@ NM_000212.2(ITGB3):c.*2030C>A http://identifiers.org/clinvar/339811 ^@ NM_001754.4(RUNX1):c.*3297T>C http://identifiers.org/clinvar/325918 ^@ NM_001139.2(ALOX12B):c.280G>A (p.Gly94Ser) http://identifiers.org/clinvar/339816 ^@ NM_001754.4(RUNX1):c.*3021A>G http://identifiers.org/clinvar/339832 ^@ NM_001754.4(RUNX1):c.*2366G>A http://identifiers.org/clinvar/323906 ^@ NM_000212.2(ITGB3):c.*2455A>C http://identifiers.org/clinvar/325919 ^@ NM_001139.2(ALOX12B):c.222C>T (p.Tyr74=) http://identifiers.org/clinvar/323912 ^@ NM_018129.3(PNPO):c.*106A>T http://identifiers.org/clinvar/323915 ^@ NM_018129.3(PNPO):c.*282_*283insAG http://identifiers.org/clinvar/325930 ^@ NM_001139.2(ALOX12B):c.42C>T (p.Leu14=) http://identifiers.org/clinvar/325932 ^@ NM_001139.2(ALOX12B):c.-48C>A http://identifiers.org/clinvar/323917 ^@ NM_018129.3(PNPO):c.*352G>C http://identifiers.org/clinvar/339837 ^@ NM_001754.4(RUNX1):c.*2201dupT http://identifiers.org/clinvar/323919 ^@ NM_018129.3(PNPO):c.*611C>T http://identifiers.org/clinvar/325933 ^@ NM_001139.2(ALOX12B):c.-110C>A http://identifiers.org/clinvar/339850 ^@ NM_001754.4(RUNX1):c.*1096A>C http://identifiers.org/clinvar/323926 ^@ NM_018129.3(PNPO):c.*895C>T http://identifiers.org/clinvar/323929 ^@ NM_018129.3(PNPO):c.*958G>T http://identifiers.org/clinvar/325935 ^@ NM_001139.2(ALOX12B):c.-157C>T http://identifiers.org/clinvar/339854 ^@ NM_001754.4(RUNX1):c.*917delA http://identifiers.org/clinvar/339859 ^@ NM_001754.4(RUNX1):c.*667delG http://identifiers.org/clinvar/325938 ^@ NM_001139.2(ALOX12B):c.-201C>G http://identifiers.org/clinvar/339860 ^@ NM_001754.4(RUNX1):c.*613A>T http://identifiers.org/clinvar/325946 ^@ NM_021628.2(ALOXE3):c.*466G>A http://identifiers.org/clinvar/325948 ^@ NM_021628.2(ALOXE3):c.*391C>A http://identifiers.org/clinvar/323930 ^@ NM_018129.3(PNPO):c.*1048C>T http://identifiers.org/clinvar/323933 ^@ NM_018129.3(PNPO):c.*1393G>A http://identifiers.org/clinvar/339862 ^@ NM_001754.4(RUNX1):c.*582delC http://identifiers.org/clinvar/339865 ^@ NM_001754.4(RUNX1):c.*436G>C http://identifiers.org/clinvar/323944 ^@ NM_000080.3(CHRNE):c.*903G>A http://identifiers.org/clinvar/323945 ^@ NM_000080.3(CHRNE):c.*902C>T http://identifiers.org/clinvar/339877 ^@ NM_001754.4(RUNX1):c.444C>T (p.Thr148=) http://identifiers.org/clinvar/323950 ^@ NM_000080.3(CHRNE):c.*852G>A http://identifiers.org/clinvar/325951 ^@ NM_021628.2(ALOXE3):c.*222C>G http://identifiers.org/clinvar/323951 ^@ NM_000080.3(CHRNE):c.*837A>G http://identifiers.org/clinvar/325952 ^@ NM_021628.2(ALOXE3):c.*111T>C http://identifiers.org/clinvar/323954 ^@ NM_000080.3(CHRNE):c.*805T>G http://identifiers.org/clinvar/339880 ^@ NM_001754.4(RUNX1):c.-67G>A http://identifiers.org/clinvar/339882 ^@ NM_001754.4(RUNX1):c.-132G>C http://identifiers.org/clinvar/325953 ^@ NM_021628.2(ALOXE3):c.*87C>T http://identifiers.org/clinvar/323955 ^@ NM_000080.3(CHRNE):c.*778_*779dupAC http://identifiers.org/clinvar/339883 ^@ NM_001754.4(RUNX1):c.-135G>T http://identifiers.org/clinvar/323958 ^@ NM_000080.3(CHRNE):c.*745G>A http://identifiers.org/clinvar/323959 ^@ NM_000080.3(CHRNE):c.*743T>G http://identifiers.org/clinvar/339889 ^@ NM_144492.2(CLDN14):c.450G>T (p.Pro150=) http://identifiers.org/clinvar/323962 ^@ NM_000080.3(CHRNE):c.*597G>A http://identifiers.org/clinvar/323963 ^@ NM_000080.3(CHRNE):c.*590C>T http://identifiers.org/clinvar/325956 ^@ NM_021628.2(ALOXE3):c.2019C>T (p.Ala673=) http://identifiers.org/clinvar/339890 ^@ NM_144492.2(CLDN14):c.378C>G (p.Ile126Met) http://identifiers.org/clinvar/325959 ^@ NM_021628.2(ALOXE3):c.1786-10G>A http://identifiers.org/clinvar/325964 ^@ NM_021628.2(ALOXE3):c.1684+5C>T http://identifiers.org/clinvar/325972 ^@ NM_021628.2(ALOXE3):c.853G>A (p.Val285Ile) http://identifiers.org/clinvar/325976 ^@ NM_021628.2(ALOXE3):c.414G>A (p.Arg138=) http://identifiers.org/clinvar/339892 ^@ NM_144492.2(CLDN14):c.96G>C (p.Arg32Ser) http://identifiers.org/clinvar/339907 ^@ NM_144492.2(CLDN14):c.-824G>A http://identifiers.org/clinvar/323966 ^@ NM_000080.3(CHRNE):c.*437G>C http://identifiers.org/clinvar/339916 ^@ NM_000411.6(HLCS):c.*2954_*2955delCT http://identifiers.org/clinvar/325978 ^@ NM_021628.2(ALOXE3):c.-99C>G http://identifiers.org/clinvar/325981 ^@ NM_021628.2(ALOXE3):c.-295T>C http://identifiers.org/clinvar/339920 ^@ NM_000411.6(HLCS):c.*2622G>A http://identifiers.org/clinvar/325984 ^@ NM_021628.2(ALOXE3):c.-337G>T http://identifiers.org/clinvar/325851 ^@ NM_002602.3(PDE6G):c.*526C>T http://identifiers.org/clinvar/323967 ^@ NM_000080.3(CHRNE):c.*383G>A http://identifiers.org/clinvar/323969 ^@ NM_000080.3(CHRNE):c.*315T>G http://identifiers.org/clinvar/325852 ^@ NM_002602.3(PDE6G):c.*484T>G http://identifiers.org/clinvar/323972 ^@ NM_000080.3(CHRNE):c.*144T>C http://identifiers.org/clinvar/339922 ^@ NM_000411.6(HLCS):c.*2541C>T http://identifiers.org/clinvar/323973 ^@ NM_000080.3(CHRNE):c.*125C>T http://identifiers.org/clinvar/339926 ^@ NM_000411.6(HLCS):c.*2243C>T http://identifiers.org/clinvar/325857 ^@ NM_002602.3(PDE6G):c.*274C>T http://identifiers.org/clinvar/323978 ^@ NM_000080.3(CHRNE):c.1326+6A>C http://identifiers.org/clinvar/323985 ^@ NM_000080.3(CHRNE):c.1033-14_1033-13insT http://identifiers.org/clinvar/339935 ^@ NM_000411.6(HLCS):c.*1744G>A http://identifiers.org/clinvar/325865 ^@ NM_002602.3(PDE6G):c.-128G>A http://identifiers.org/clinvar/323988 ^@ NM_000080.3(CHRNE):c.820A>G (p.Thr274Ala) http://identifiers.org/clinvar/339941 ^@ NM_000411.6(HLCS):c.*1484A>G http://identifiers.org/clinvar/325896 ^@ NM_006907.3(PYCR1):c.*482G>A http://identifiers.org/clinvar/339946 ^@ NM_000411.6(HLCS):c.*1089G>A http://identifiers.org/clinvar/325922 ^@ NM_006907.3(PYCR1):c.-77G>A http://identifiers.org/clinvar/323989 ^@ NM_000080.3(CHRNE):c.802+7A>C http://identifiers.org/clinvar/325923 ^@ NM_006907.3(PYCR1):c.-196G>A http://identifiers.org/clinvar/325991 ^@ NM_025099.5(CTC1):c.*2338T>C http://identifiers.org/clinvar/323991 ^@ NM_000080.3(CHRNE):c.768C>T (p.Gly256=) http://identifiers.org/clinvar/323993 ^@ NM_000080.3(CHRNE):c.556G>A (p.Gly186Ser) http://identifiers.org/clinvar/339947 ^@ NM_000411.6(HLCS):c.*1084C>T http://identifiers.org/clinvar/339949 ^@ NM_000411.6(HLCS):c.*779A>T http://identifiers.org/clinvar/323995 ^@ NM_000080.3(CHRNE):c.506A>T (p.Gln169Leu) http://identifiers.org/clinvar/339956 ^@ NM_000411.6(HLCS):c.*259T>C http://identifiers.org/clinvar/324136 ^@ NM_053013.3(ENO3):c.212A>G (p.Asn71Ser) http://identifiers.org/clinvar/324144 ^@ NM_053013.3(ENO3):c.788_789insATC (p.Ser263_Pro264insSer) http://identifiers.org/clinvar/326000 ^@ NM_025099.5(CTC1):c.*1939_*1940insT http://identifiers.org/clinvar/339957 ^@ NM_000411.6(HLCS):c.1991A>G (p.Tyr664Cys) http://identifiers.org/clinvar/324150 ^@ NM_053013.3(ENO3):c.1047G>A (p.Ser349=) http://identifiers.org/clinvar/339960 ^@ NM_000411.6(HLCS):c.1536G>A (p.Val512=) http://identifiers.org/clinvar/326005 ^@ NM_025099.5(CTC1):c.*1857C>T http://identifiers.org/clinvar/326012 ^@ NM_025099.5(CTC1):c.*1792G>A http://identifiers.org/clinvar/339965 ^@ NM_000411.6(HLCS):c.477A>G (p.Gly159=) http://identifiers.org/clinvar/324004 ^@ NM_005220.2(DLX3):c.*1252C>G http://identifiers.org/clinvar/339966 ^@ NM_000411.6(HLCS):c.424G>A (p.Val142Ile) http://identifiers.org/clinvar/324008 ^@ NM_005220.2(DLX3):c.*1168delA http://identifiers.org/clinvar/324011 ^@ NM_005220.2(DLX3):c.*988G>A http://identifiers.org/clinvar/326016 ^@ NM_025099.5(CTC1):c.*1573A>G http://identifiers.org/clinvar/339972 ^@ NM_000411.6(HLCS):c.53-17_53-16delTC http://identifiers.org/clinvar/324017 ^@ NM_005220.2(DLX3):c.*259C>A http://identifiers.org/clinvar/326020 ^@ NM_025099.5(CTC1):c.*1540C>T http://identifiers.org/clinvar/326022 ^@ NM_025099.5(CTC1):c.*1495G>A http://identifiers.org/clinvar/326024 ^@ NM_025099.5(CTC1):c.*1478C>A http://identifiers.org/clinvar/339975 ^@ NM_000411.6(HLCS):c.-173C>T http://identifiers.org/clinvar/339976 ^@ NM_000411.6(HLCS):c.-208G>A http://identifiers.org/clinvar/326026 ^@ NM_025099.5(CTC1):c.*1475A>G http://identifiers.org/clinvar/339981 ^@ NM_000411.6(HLCS):c.-393+7C>T http://identifiers.org/clinvar/324022 ^@ NM_005220.2(DLX3):c.698C>T (p.Pro233Leu) http://identifiers.org/clinvar/339987 ^@ NM_020639.2(RIPK4):c.*1234G>A http://identifiers.org/clinvar/324030 ^@ NM_005220.2(DLX3):c.-131C>A http://identifiers.org/clinvar/326038 ^@ NM_025099.5(CTC1):c.*1166C>T http://identifiers.org/clinvar/324034 ^@ NM_005220.2(DLX3):c.-189G>T http://identifiers.org/clinvar/339989 ^@ NM_020639.2(RIPK4):c.*1039dupG http://identifiers.org/clinvar/339992 ^@ NM_020639.2(RIPK4):c.*782_*783dupAG http://identifiers.org/clinvar/326039 ^@ NM_025099.5(CTC1):c.*1156G>A http://identifiers.org/clinvar/326041 ^@ NM_025099.5(CTC1):c.*1148C>A http://identifiers.org/clinvar/324035 ^@ NM_005220.2(DLX3):c.-190C>T http://identifiers.org/clinvar/326042 ^@ NM_025099.5(CTC1):c.*1134G>A http://identifiers.org/clinvar/339996 ^@ NM_020639.2(RIPK4):c.*715A>G http://identifiers.org/clinvar/339998 ^@ NM_020639.2(RIPK4):c.*578C>A http://identifiers.org/clinvar/340001 ^@ NM_020639.2(RIPK4):c.*275T>C http://identifiers.org/clinvar/340004 ^@ NM_020639.2(RIPK4):c.*201C>T http://identifiers.org/clinvar/324040 ^@ NM_000023.3(SGCA):c.-5C>G http://identifiers.org/clinvar/326043 ^@ NM_025099.5(CTC1):c.*1130G>C http://identifiers.org/clinvar/340007 ^@ NM_020639.2(RIPK4):c.*73G>A http://identifiers.org/clinvar/340010 ^@ NM_020639.2(RIPK4):c.2325C>T (p.Ala775=) http://identifiers.org/clinvar/326047 ^@ NM_025099.5(CTC1):c.*1046T>C http://identifiers.org/clinvar/324044 ^@ NM_000023.3(SGCA):c.690G>A (p.Leu230=) http://identifiers.org/clinvar/324045 ^@ NM_000023.3(SGCA):c.1063C>T (p.Arg355Trp) http://identifiers.org/clinvar/340013 ^@ NM_020639.2(RIPK4):c.2139C>T (p.His713=) http://identifiers.org/clinvar/326048 ^@ NM_025099.5(CTC1):c.*1041A>G http://identifiers.org/clinvar/340019 ^@ NM_020639.2(RIPK4):c.1530T>C (p.Phe510=) http://identifiers.org/clinvar/324052 ^@ NM_000023.3(SGCA):c.*227G>A http://identifiers.org/clinvar/340027 ^@ NM_020639.2(RIPK4):c.819G>A (p.Arg273=) http://identifiers.org/clinvar/326050 ^@ NM_025099.5(CTC1):c.*797C>T http://identifiers.org/clinvar/326051 ^@ NM_025099.5(CTC1):c.*631T>G http://identifiers.org/clinvar/324057 ^@ NM_000088.3(COL1A1):c.*1205C>G http://identifiers.org/clinvar/326052 ^@ NM_025099.5(CTC1):c.*558G>A http://identifiers.org/clinvar/324068 ^@ NM_000088.3(COL1A1):c.*998_*999delGA http://identifiers.org/clinvar/326054 ^@ NM_025099.5(CTC1):c.*327C>T http://identifiers.org/clinvar/326058 ^@ NM_025099.5(CTC1):c.*218T>G http://identifiers.org/clinvar/324069 ^@ NM_000088.3(COL1A1):c.*981G>C http://identifiers.org/clinvar/340032 ^@ NM_020639.2(RIPK4):c.327T>C (p.Ala109=) http://identifiers.org/clinvar/340042 ^@ NM_024022.2(TMPRSS3):c.*578delG http://identifiers.org/clinvar/340043 ^@ NM_024022.2(TMPRSS3):c.*576G>A http://identifiers.org/clinvar/340045 ^@ NM_024022.2(TMPRSS3):c.*539C>T http://identifiers.org/clinvar/326065 ^@ NM_025099.5(CTC1):c.3504C>T (p.Ile1168=) http://identifiers.org/clinvar/326066 ^@ NM_025099.5(CTC1):c.3247G>A (p.Glu1083Lys) http://identifiers.org/clinvar/326068 ^@ NM_025099.5(CTC1):c.3153G>C (p.Arg1051=) http://identifiers.org/clinvar/324070 ^@ NM_000088.3(COL1A1):c.*815A>G http://identifiers.org/clinvar/324071 ^@ NM_000088.3(COL1A1):c.*795C>T http://identifiers.org/clinvar/326075 ^@ NM_025099.5(CTC1):c.1957C>T (p.Arg653Trp) http://identifiers.org/clinvar/324075 ^@ NM_000088.3(COL1A1):c.*682C>T http://identifiers.org/clinvar/340048 ^@ NM_024022.2(TMPRSS3):c.*407A>T http://identifiers.org/clinvar/326078 ^@ NM_025099.5(CTC1):c.1734C>T (p.Ala578=) http://identifiers.org/clinvar/324083 ^@ NM_000088.3(COL1A1):c.*257_*258dupAA http://identifiers.org/clinvar/326083 ^@ NM_025099.5(CTC1):c.663T>C (p.Gly221=) http://identifiers.org/clinvar/326088 ^@ NM_025099.5(CTC1):c.189C>G (p.Leu63=) http://identifiers.org/clinvar/340049 ^@ NM_024022.2(TMPRSS3):c.*402C>T http://identifiers.org/clinvar/324082 ^@ NM_000088.3(COL1A1):c.*258dupA http://identifiers.org/clinvar/340056 ^@ NM_024022.2(TMPRSS3):c.*177A>C http://identifiers.org/clinvar/324086 ^@ NM_000088.3(COL1A1):c.*245_*246dupGA http://identifiers.org/clinvar/324088 ^@ NM_000088.3(COL1A1):c.*243_*244dupAA http://identifiers.org/clinvar/326090 ^@ NM_025099.5(CTC1):c.33C>T (p.Ser11=) http://identifiers.org/clinvar/326093 ^@ NM_025099.5(CTC1):c.-59C>G http://identifiers.org/clinvar/326096 ^@ NM_006796.2(AFG3L2):c.*373G>A http://identifiers.org/clinvar/326099 ^@ NM_006796.2(AFG3L2):c.*221A>G http://identifiers.org/clinvar/324090 ^@ NM_000088.3(COL1A1):c.*215delT http://identifiers.org/clinvar/326100 ^@ NM_006796.2(AFG3L2):c.*109A>C http://identifiers.org/clinvar/324094 ^@ NM_000088.3(COL1A1):c.*21G>C http://identifiers.org/clinvar/324097 ^@ NM_000088.3(COL1A1):c.4092G>A (p.Gln1364=) http://identifiers.org/clinvar/324098 ^@ NM_000088.3(COL1A1):c.3815-12G>T http://identifiers.org/clinvar/340060 ^@ NM_024022.2(TMPRSS3):c.681G>A (p.Gln227=) http://identifiers.org/clinvar/340061 ^@ NM_024022.2(TMPRSS3):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/326101 ^@ NM_006796.2(AFG3L2):c.*28G>C http://identifiers.org/clinvar/340063 ^@ NM_024022.2(TMPRSS3):c.-51-12T>C http://identifiers.org/clinvar/326105 ^@ NM_006796.2(AFG3L2):c.1664-5G>C http://identifiers.org/clinvar/340065 ^@ NM_024022.2(TMPRSS3):c.-131G>C http://identifiers.org/clinvar/324100 ^@ NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) http://identifiers.org/clinvar/324103 ^@ NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) http://identifiers.org/clinvar/340069 ^@ NM_024022.2(TMPRSS3):c.-198G>A http://identifiers.org/clinvar/326109 ^@ NM_006796.2(AFG3L2):c.400-14C>G http://identifiers.org/clinvar/340070 ^@ NM_000071.2(CBS):c.*592T>A http://identifiers.org/clinvar/324111 ^@ NM_000088.3(COL1A1):c.1888G>A (p.Glu630Lys) http://identifiers.org/clinvar/340072 ^@ NM_000071.2(CBS):c.*565C>T http://identifiers.org/clinvar/326116 ^@ NM_006796.2(AFG3L2):c.-18A>G http://identifiers.org/clinvar/326119 ^@ NM_006796.2(AFG3L2):c.-92T>C http://identifiers.org/clinvar/324116 ^@ NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) http://identifiers.org/clinvar/324119 ^@ NM_000088.3(COL1A1):c.334-5C>A http://identifiers.org/clinvar/326122 ^@ NM_000529.2(MC2R):c.*2528T>G http://identifiers.org/clinvar/326126 ^@ NM_000529.2(MC2R):c.*2394C>G http://identifiers.org/clinvar/324130 ^@ NM_000088.3(COL1A1):c.-78_-77delGCinsAA http://identifiers.org/clinvar/340073 ^@ NM_000071.2(CBS):c.*544T>C http://identifiers.org/clinvar/324156 ^@ NM_017777.3(MKS1):c.*322G>T http://identifiers.org/clinvar/340075 ^@ NM_000071.2(CBS):c.*383C>T http://identifiers.org/clinvar/324157 ^@ NM_017777.3(MKS1):c.*75C>T http://identifiers.org/clinvar/326130 ^@ NM_000529.2(MC2R):c.*1943_*1944delTG http://identifiers.org/clinvar/340077 ^@ NM_000071.2(CBS):c.*103_*107delCTGGC http://identifiers.org/clinvar/324158 ^@ NM_017777.3(MKS1):c.1543C>T (p.Arg515Cys) http://identifiers.org/clinvar/340079 ^@ NM_000071.2(CBS):c.*55_*57delTTC http://identifiers.org/clinvar/324162 ^@ NM_017777.3(MKS1):c.813C>T (p.His271=) http://identifiers.org/clinvar/324164 ^@ NM_017777.3(MKS1):c.729G>T (p.Thr243=) http://identifiers.org/clinvar/324167 ^@ NM_017777.3(MKS1):c.263T>C (p.Phe88Ser) http://identifiers.org/clinvar/340083 ^@ NM_000071.2(CBS):c.1146-12C>T http://identifiers.org/clinvar/340085 ^@ NM_000071.2(CBS):c.888G>A (p.Thr296=) http://identifiers.org/clinvar/324168 ^@ NM_017777.3(MKS1):c.214G>A (p.Glu72Lys) http://identifiers.org/clinvar/324171 ^@ NM_017777.3(MKS1):c.27C>T (p.Asp9=) http://identifiers.org/clinvar/326132 ^@ NM_000529.2(MC2R):c.*1896C>T http://identifiers.org/clinvar/324172 ^@ NM_017777.3(MKS1):c.-64T>C http://identifiers.org/clinvar/340088 ^@ NM_000071.2(CBS):c.532G>A (p.Val178Met) http://identifiers.org/clinvar/326133 ^@ NM_000529.2(MC2R):c.*1885T>C http://identifiers.org/clinvar/326135 ^@ NM_000529.2(MC2R):c.*1759C>A http://identifiers.org/clinvar/326144 ^@ NM_000529.2(MC2R):c.*1265A>C http://identifiers.org/clinvar/340093 ^@ NM_000071.2(CBS):c.-85+10G>C http://identifiers.org/clinvar/340097 ^@ NM_000394.3(CRYAA):c.245C>T (p.Pro82Leu) http://identifiers.org/clinvar/324177 ^@ NM_015294.4(TRIM37):c.*977delC http://identifiers.org/clinvar/340102 ^@ NM_000394.3(CRYAA):c.464C>A (p.Ala155Asp) http://identifiers.org/clinvar/326157 ^@ NM_000529.2(MC2R):c.*998_*1008delTGTGTGTGTGTinsA http://identifiers.org/clinvar/326172 ^@ NM_000529.2(MC2R):c.*848A>T http://identifiers.org/clinvar/324179 ^@ NM_015294.4(TRIM37):c.*836A>G http://identifiers.org/clinvar/324181 ^@ NM_015294.4(TRIM37):c.*658A>G http://identifiers.org/clinvar/324192 ^@ NM_015294.4(TRIM37):c.2544G>A (p.Ala848=) http://identifiers.org/clinvar/324195 ^@ NM_015294.4(TRIM37):c.2430C>T (p.Pro810=) http://identifiers.org/clinvar/326174 ^@ NM_000529.2(MC2R):c.*685G>A http://identifiers.org/clinvar/324196 ^@ NM_015294.4(TRIM37):c.2316A>G (p.Leu772=) http://identifiers.org/clinvar/326179 ^@ NM_000529.2(MC2R):c.*471C>A http://identifiers.org/clinvar/340107 ^@ NM_000394.3(CRYAA):c.*193G>A http://identifiers.org/clinvar/326183 ^@ NM_000529.2(MC2R):c.*406C>A http://identifiers.org/clinvar/324197 ^@ NM_015294.4(TRIM37):c.1815C>T (p.Ser605=) http://identifiers.org/clinvar/326185 ^@ NM_000529.2(MC2R):c.*390A>G http://identifiers.org/clinvar/324211 ^@ NM_015294.4(TRIM37):c.-203C>A http://identifiers.org/clinvar/340113 ^@ NM_000394.3(CRYAA):c.*507C>G http://identifiers.org/clinvar/340116 ^@ NM_000100.3(CSTB):c.*325A>G http://identifiers.org/clinvar/324212 ^@ NM_015294.4(TRIM37):c.-224A>G http://identifiers.org/clinvar/326186 ^@ NM_000529.2(MC2R):c.*376G>C http://identifiers.org/clinvar/326188 ^@ NM_000529.2(MC2R):c.*111G>A http://identifiers.org/clinvar/326189 ^@ NM_000529.2(MC2R):c.*58G>A http://identifiers.org/clinvar/340124 ^@ NM_000100.3(CSTB):c.-54C>T http://identifiers.org/clinvar/326190 ^@ NM_000529.2(MC2R):c.*27C>T http://identifiers.org/clinvar/324215 ^@ NM_015294.4(TRIM37):c.-236A>G http://identifiers.org/clinvar/340126 ^@ NM_000211.4(ITGB2):c.*403C>T http://identifiers.org/clinvar/324224 ^@ NM_000717.4(CA4):c.-47C>G http://identifiers.org/clinvar/324225 ^@ NM_000717.4(CA4):c.-24G>C http://identifiers.org/clinvar/340131 ^@ NM_000211.4(ITGB2):c.*167C>T http://identifiers.org/clinvar/324228 ^@ NM_000717.4(CA4):c.235C>A (p.Gln79Lys) http://identifiers.org/clinvar/340133 ^@ NM_000211.4(ITGB2):c.*145C>A http://identifiers.org/clinvar/326196 ^@ NM_000529.2(MC2R):c.435C>T (p.Arg145=) http://identifiers.org/clinvar/326197 ^@ NM_000529.2(MC2R):c.98C>T (p.Thr33Ile) http://identifiers.org/clinvar/324230 ^@ NM_000717.4(CA4):c.357C>T (p.Ser119=) http://identifiers.org/clinvar/324231 ^@ NM_000717.4(CA4):c.415A>T (p.Met139Leu) http://identifiers.org/clinvar/340152 ^@ NM_000211.4(ITGB2):c.1464G>A (p.Arg488=) http://identifiers.org/clinvar/324239 ^@ NM_000717.4(CA4):c.*78T>C http://identifiers.org/clinvar/324240 ^@ NM_018488.3(TBX4):c.16G>A (p.Gly6Ser) http://identifiers.org/clinvar/326202 ^@ NM_002894.2(RBBP8):c.-288G>A http://identifiers.org/clinvar/324243 ^@ NM_018488.3(TBX4):c.104C>T (p.Ala35Val) http://identifiers.org/clinvar/324244 ^@ NM_018488.3(TBX4):c.108G>T (p.Ala36=) http://identifiers.org/clinvar/324248 ^@ NM_018488.3(TBX4):c.249G>A (p.Ala83=) http://identifiers.org/clinvar/324249 ^@ NM_018488.3(TBX4):c.276T>G (p.Ala92=) http://identifiers.org/clinvar/326203 ^@ NM_002894.2(RBBP8):c.-269C>T http://identifiers.org/clinvar/340153 ^@ NM_000211.4(ITGB2):c.1413-8G>A http://identifiers.org/clinvar/340155 ^@ NM_000211.4(ITGB2):c.1323T>C (p.Val441=) http://identifiers.org/clinvar/340159 ^@ NM_000211.4(ITGB2):c.1026G>C (p.Val342=) http://identifiers.org/clinvar/340162 ^@ NM_000211.4(ITGB2):c.853C>T (p.Arg285Cys) http://identifiers.org/clinvar/324250 ^@ NM_018488.3(TBX4):c.335A>G (p.Lys112Arg) http://identifiers.org/clinvar/324251 ^@ NM_018488.3(TBX4):c.622G>A (p.Gly208Ser) http://identifiers.org/clinvar/324256 ^@ NM_018488.3(TBX4):c.932C>T (p.Ser311Leu) http://identifiers.org/clinvar/326206 ^@ NM_002894.2(RBBP8):c.-252C>T http://identifiers.org/clinvar/340163 ^@ NM_000211.4(ITGB2):c.849C>T (p.Asp283=) http://identifiers.org/clinvar/340166 ^@ NM_000211.4(ITGB2):c.732C>T (p.Ala244=) http://identifiers.org/clinvar/340167 ^@ NM_000211.4(ITGB2):c.729C>T (p.Val243=) http://identifiers.org/clinvar/324261 ^@ NM_018488.3(TBX4):c.1214C>G (p.Ser405Cys) http://identifiers.org/clinvar/324271 ^@ NM_018488.3(TBX4):c.*126_*137dupGTGTGTGTGTGT http://identifiers.org/clinvar/340171 ^@ NM_000211.4(ITGB2):c.525C>T (p.Thr175=) http://identifiers.org/clinvar/340174 ^@ NM_000211.4(ITGB2):c.328+15G>A http://identifiers.org/clinvar/326208 ^@ NM_002894.2(RBBP8):c.-225G>C http://identifiers.org/clinvar/324288 ^@ NM_032043.2(BRIP1):c.*3924T>G http://identifiers.org/clinvar/326218 ^@ NM_002894.2(RBBP8):c.248+12A>C http://identifiers.org/clinvar/326220 ^@ NM_002894.2(RBBP8):c.684T>C (p.Tyr228=) http://identifiers.org/clinvar/324291 ^@ NM_032043.2(BRIP1):c.*3617T>C http://identifiers.org/clinvar/340176 ^@ NM_000211.4(ITGB2):c.253G>A (p.Ala85Thr) http://identifiers.org/clinvar/326221 ^@ NM_002894.2(RBBP8):c.736C>G (p.Pro246Ala) http://identifiers.org/clinvar/326227 ^@ NM_002894.2(RBBP8):c.1486C>T (p.Arg496Ter) http://identifiers.org/clinvar/324292 ^@ NM_032043.2(BRIP1):c.*3514T>G http://identifiers.org/clinvar/340178 ^@ NM_000211.4(ITGB2):c.181C>T (p.Arg61Cys) http://identifiers.org/clinvar/340179 ^@ NM_000211.4(ITGB2):c.162G>A (p.Pro54=) http://identifiers.org/clinvar/324293 ^@ NM_032043.2(BRIP1):c.*3489T>C http://identifiers.org/clinvar/326230 ^@ NM_002894.2(RBBP8):c.1939+12A>G http://identifiers.org/clinvar/324298 ^@ NM_032043.2(BRIP1):c.*3188G>A http://identifiers.org/clinvar/324300 ^@ NM_032043.2(BRIP1):c.*3114delT http://identifiers.org/clinvar/340181 ^@ NM_000211.4(ITGB2):c.59-15G>A http://identifiers.org/clinvar/340183 ^@ NM_000211.4(ITGB2):c.31C>T (p.Leu11=) http://identifiers.org/clinvar/324303 ^@ NM_032043.2(BRIP1):c.*2819_*2820insAAAA http://identifiers.org/clinvar/324307 ^@ NM_032043.2(BRIP1):c.*2817_*2818insGAAAGA http://identifiers.org/clinvar/324314 ^@ NM_032043.2(BRIP1):c.*2692A>G http://identifiers.org/clinvar/324315 ^@ NM_032043.2(BRIP1):c.*2691C>G http://identifiers.org/clinvar/326233 ^@ NM_002894.2(RBBP8):c.2399G>A (p.Arg800Gln) http://identifiers.org/clinvar/324316 ^@ NM_032043.2(BRIP1):c.*2668G>A http://identifiers.org/clinvar/326235 ^@ NM_002894.2(RBBP8):c.2630G>A (p.Arg877His) http://identifiers.org/clinvar/326240 ^@ NM_000271.4(NPC1):c.*485dupA http://identifiers.org/clinvar/324318 ^@ NM_032043.2(BRIP1):c.*2538G>A http://identifiers.org/clinvar/340189 ^@ NM_000211.4(ITGB2):c.-111T>C http://identifiers.org/clinvar/324328 ^@ NM_032043.2(BRIP1):c.*1374T>C http://identifiers.org/clinvar/324337 ^@ NM_032043.2(BRIP1):c.*396_*397delCT http://identifiers.org/clinvar/324341 ^@ NM_032043.2(BRIP1):c.*283delA http://identifiers.org/clinvar/324342 ^@ NM_032043.2(BRIP1):c.*280G>C http://identifiers.org/clinvar/326241 ^@ NM_000271.4(NPC1):c.*349G>A http://identifiers.org/clinvar/340193 ^@ NM_130445.3(COL18A1):c.420A>G (p.Thr140=) http://identifiers.org/clinvar/340194 ^@ NM_130445.3(COL18A1):c.510A>G (p.Ala170=) http://identifiers.org/clinvar/324346 ^@ NM_032043.2(BRIP1):c.*128A>G http://identifiers.org/clinvar/324350 ^@ NM_032043.2(BRIP1):c.2829C>A (p.Val943=) http://identifiers.org/clinvar/324357 ^@ NM_000789.3(ACE):c.5G>T (p.Gly2Val) http://identifiers.org/clinvar/326242 ^@ NM_000271.4(NPC1):c.*334T>A http://identifiers.org/clinvar/326246 ^@ NM_000271.4(NPC1):c.*164T>C http://identifiers.org/clinvar/324358 ^@ NM_000789.3(ACE):c.50_55dupCGCTGC (p.Leu18_Leu19insProLeu) http://identifiers.org/clinvar/324366 ^@ NM_000789.3(ACE):c.549C>G (p.Ala183=) http://identifiers.org/clinvar/340204 ^@ NM_130445.3(COL18A1):c.776G>T (p.Arg259Leu) http://identifiers.org/clinvar/324371 ^@ NM_000789.3(ACE):c.928A>G (p.Ser310Gly) http://identifiers.org/clinvar/326252 ^@ NM_000271.4(NPC1):c.3012G>A (p.Ser1004=) http://identifiers.org/clinvar/324377 ^@ NM_000789.3(ACE):c.1229G>A (p.Arg410Gln) http://identifiers.org/clinvar/324380 ^@ NM_000789.3(ACE):c.1501G>A (p.Gly501Arg) http://identifiers.org/clinvar/326257 ^@ NM_000271.4(NPC1):c.2775C>T (p.Asn925=) http://identifiers.org/clinvar/326260 ^@ NM_000271.4(NPC1):c.2501T>C (p.Met834Thr) http://identifiers.org/clinvar/324385 ^@ NM_000789.3(ACE):c.1738C>T (p.Pro580Ser) http://identifiers.org/clinvar/326267 ^@ NM_000271.4(NPC1):c.1947+14_1947+15insC http://identifiers.org/clinvar/324389 ^@ NM_000789.3(ACE):c.1915G>A (p.Gly639Ser) http://identifiers.org/clinvar/326269 ^@ NM_000271.4(NPC1):c.1947+12_1947+13insCGGGG http://identifiers.org/clinvar/340210 ^@ NM_130445.3(COL18A1):c.1009G>A (p.Gly337Ser) http://identifiers.org/clinvar/324392 ^@ NM_000789.3(ACE):c.2309T>C (p.Leu770Pro) http://identifiers.org/clinvar/324396 ^@ NM_000789.3(ACE):c.2483T>C (p.Met828Thr) http://identifiers.org/clinvar/324403 ^@ NM_000789.3(ACE):c.2642-5T>C http://identifiers.org/clinvar/326290 ^@ NM_000271.4(NPC1):c.-272A>C http://identifiers.org/clinvar/326291 ^@ NM_000227.4(LAMA3):c.30C>T (p.Cys10=) http://identifiers.org/clinvar/324405 ^@ NM_000789.3(ACE):c.2739+5G>A http://identifiers.org/clinvar/340211 ^@ NM_130445.3(COL18A1):c.1044G>A (p.Pro348=) http://identifiers.org/clinvar/326292 ^@ NM_000227.4(LAMA3):c.110T>G (p.Phe37Cys) http://identifiers.org/clinvar/326299 ^@ NM_000227.4(LAMA3):c.666C>T (p.Asn222=) http://identifiers.org/clinvar/324408 ^@ NM_000789.3(ACE):c.2791C>T (p.Leu931=) http://identifiers.org/clinvar/324409 ^@ NM_000789.3(ACE):c.2858G>A (p.Arg953Gln) http://identifiers.org/clinvar/326310 ^@ NM_000227.4(LAMA3):c.1728C>T (p.Ala576=) http://identifiers.org/clinvar/340220 ^@ NM_130445.3(COL18A1):c.1398+7C>G http://identifiers.org/clinvar/324410 ^@ NM_000789.3(ACE):c.2952G>A (p.Val984=) http://identifiers.org/clinvar/340224 ^@ NM_130445.3(COL18A1):c.1509C>T (p.Gly503=) http://identifiers.org/clinvar/324411 ^@ NM_000789.3(ACE):c.2952G>C (p.Val984=) http://identifiers.org/clinvar/326312 ^@ NM_000227.4(LAMA3):c.1863C>T (p.Ala621=) http://identifiers.org/clinvar/324413 ^@ NM_000789.3(ACE):c.3060C>T (p.Asp1020=) http://identifiers.org/clinvar/340226 ^@ NM_130445.3(COL18A1):c.1659G>A (p.Gly553=) http://identifiers.org/clinvar/340233 ^@ NM_130445.3(COL18A1):c.2032-10G>A http://identifiers.org/clinvar/324414 ^@ NM_000789.3(ACE):c.3108C>A (p.Asn1036Lys) http://identifiers.org/clinvar/324420 ^@ NM_000789.3(ACE):c.3801C>T (p.Ile1267=) http://identifiers.org/clinvar/326315 ^@ NM_000227.4(LAMA3):c.2509C>T (p.Arg837Trp) http://identifiers.org/clinvar/326317 ^@ NM_000227.4(LAMA3):c.2655-5A>C http://identifiers.org/clinvar/324421 ^@ NM_000789.3(ACE):c.3877C>T (p.His1293Tyr) http://identifiers.org/clinvar/324431 ^@ NM_000789.3(ACE):c.*591_*592delCA http://identifiers.org/clinvar/340239 ^@ NM_130445.3(COL18A1):c.2187+7G>C http://identifiers.org/clinvar/340241 ^@ NM_130445.3(COL18A1):c.2279G>A (p.Gly760Asp) http://identifiers.org/clinvar/340243 ^@ NM_130445.3(COL18A1):c.2379+7C>T http://identifiers.org/clinvar/326327 ^@ NM_000227.4(LAMA3):c.3366G>C (p.Thr1122=) http://identifiers.org/clinvar/326332 ^@ NM_000227.4(LAMA3):c.3456G>A (p.Ser1152=) http://identifiers.org/clinvar/324437 ^@ NM_000789.3(ACE):c.*788G>A http://identifiers.org/clinvar/326334 ^@ NM_000227.4(LAMA3):c.3749+7G>T http://identifiers.org/clinvar/326335 ^@ NM_000227.4(LAMA3):c.3802C>T (p.His1268Tyr) http://identifiers.org/clinvar/340247 ^@ NM_130445.3(COL18A1):c.2478G>A (p.Pro826=) http://identifiers.org/clinvar/340249 ^@ NM_130445.3(COL18A1):c.2578-12C>T http://identifiers.org/clinvar/324447 ^@ NM_016360.3(TACO1):c.765C>G (p.Ser255=) http://identifiers.org/clinvar/324448 ^@ NM_016360.3(TACO1):c.*44G>T http://identifiers.org/clinvar/324455 ^@ NM_000515.4(GH1):c.291+8G>T http://identifiers.org/clinvar/324457 ^@ NM_000515.4(GH1):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/324460 ^@ NM_000515.4(GH1):c.-4T>G http://identifiers.org/clinvar/324463 ^@ NM_000334.4(SCN4A):c.*2211C>T http://identifiers.org/clinvar/326340 ^@ NM_000227.4(LAMA3):c.3946G>A (p.Gly1316Arg) http://identifiers.org/clinvar/340251 ^@ NM_130445.3(COL18A1):c.2623A>G (p.Asn875Asp) http://identifiers.org/clinvar/326341 ^@ NM_000227.4(LAMA3):c.4071C>T (p.Ser1357=) http://identifiers.org/clinvar/326348 ^@ NM_000227.4(LAMA3):c.4911C>T (p.Val1637=) http://identifiers.org/clinvar/326349 ^@ NM_000227.4(LAMA3):c.5021G>A (p.Gly1674Asp) http://identifiers.org/clinvar/326353 ^@ NM_000227.4(LAMA3):c.*91C>T http://identifiers.org/clinvar/324471 ^@ NM_000334.4(SCN4A):c.*1875A>G http://identifiers.org/clinvar/324479 ^@ NM_000334.4(SCN4A):c.*1394_*1403dupATATATGTGT http://identifiers.org/clinvar/324481 ^@ NM_000334.4(SCN4A):c.*1357A>G http://identifiers.org/clinvar/326543 ^@ NM_014646.2(LPIN2):c.*3139A>G http://identifiers.org/clinvar/326550 ^@ NM_014646.2(LPIN2):c.*2934C>T http://identifiers.org/clinvar/326552 ^@ NM_014646.2(LPIN2):c.*2923C>T http://identifiers.org/clinvar/326557 ^@ NM_014646.2(LPIN2):c.*2822C>T http://identifiers.org/clinvar/324484 ^@ NM_000334.4(SCN4A):c.*1253G>A http://identifiers.org/clinvar/326561 ^@ NM_014646.2(LPIN2):c.*2691_*2696delGAAAAA http://identifiers.org/clinvar/324485 ^@ NM_000334.4(SCN4A):c.*1215G>A http://identifiers.org/clinvar/324486 ^@ NM_000334.4(SCN4A):c.*1205C>G http://identifiers.org/clinvar/324488 ^@ NM_000334.4(SCN4A):c.*1088A>G http://identifiers.org/clinvar/326572 ^@ NM_014646.2(LPIN2):c.*2216C>A http://identifiers.org/clinvar/326574 ^@ NM_014646.2(LPIN2):c.*2103G>A http://identifiers.org/clinvar/326577 ^@ NM_014646.2(LPIN2):c.*1827G>A http://identifiers.org/clinvar/324489 ^@ NM_000334.4(SCN4A):c.*1069G>A http://identifiers.org/clinvar/340260 ^@ NM_130445.3(COL18A1):c.2832A>C (p.Pro944=) http://identifiers.org/clinvar/326579 ^@ NM_014646.2(LPIN2):c.*1691A>G http://identifiers.org/clinvar/326581 ^@ NM_014646.2(LPIN2):c.*1586G>A http://identifiers.org/clinvar/324491 ^@ NM_000334.4(SCN4A):c.*981G>A http://identifiers.org/clinvar/324499 ^@ NM_000334.4(SCN4A):c.*315C>T http://identifiers.org/clinvar/326582 ^@ NM_014646.2(LPIN2):c.*1559A>G http://identifiers.org/clinvar/324504 ^@ NM_000334.4(SCN4A):c.*22A>G http://identifiers.org/clinvar/326583 ^@ NM_014646.2(LPIN2):c.*1514G>C http://identifiers.org/clinvar/340269 ^@ NM_130445.3(COL18A1):c.3649G>A (p.Ala1217Thr) http://identifiers.org/clinvar/324517 ^@ NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) http://identifiers.org/clinvar/324520 ^@ NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) http://identifiers.org/clinvar/326586 ^@ NM_014646.2(LPIN2):c.*1462A>G http://identifiers.org/clinvar/324530 ^@ NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) http://identifiers.org/clinvar/340272 ^@ NM_130445.3(COL18A1):c.3756C>T (p.Arg1252=) http://identifiers.org/clinvar/340278 ^@ NM_130445.3(COL18A1):c.*134G>A http://identifiers.org/clinvar/340279 ^@ NM_130445.3(COL18A1):c.*277T>C http://identifiers.org/clinvar/340282 ^@ NM_130445.3(COL18A1):c.*306G>C http://identifiers.org/clinvar/324537 ^@ NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) http://identifiers.org/clinvar/340286 ^@ NM_130445.3(COL18A1):c.*390G>A http://identifiers.org/clinvar/340289 ^@ NM_130445.3(COL18A1):c.*505G>A http://identifiers.org/clinvar/324540 ^@ NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) http://identifiers.org/clinvar/324546 ^@ NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) http://identifiers.org/clinvar/324548 ^@ NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) http://identifiers.org/clinvar/324553 ^@ NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) http://identifiers.org/clinvar/324555 ^@ NM_000334.4(SCN4A):c.-4G>A http://identifiers.org/clinvar/326587 ^@ NM_014646.2(LPIN2):c.*1418G>A http://identifiers.org/clinvar/326589 ^@ NM_014646.2(LPIN2):c.*1179G>A http://identifiers.org/clinvar/340291 ^@ NM_130445.3(COL18A1):c.*550dupC http://identifiers.org/clinvar/324556 ^@ NM_000334.4(SCN4A):c.-23G>T http://identifiers.org/clinvar/324567 ^@ NM_014336.4(AIPL1):c.*1679G>C http://identifiers.org/clinvar/324574 ^@ NM_014336.4(AIPL1):c.*1455G>T http://identifiers.org/clinvar/324580 ^@ NM_014336.4(AIPL1):c.*1237C>T http://identifiers.org/clinvar/324590 ^@ NM_014336.4(AIPL1):c.*824G>C http://identifiers.org/clinvar/326591 ^@ NM_014646.2(LPIN2):c.*1077C>G http://identifiers.org/clinvar/324598 ^@ NM_014336.4(AIPL1):c.*188G>A http://identifiers.org/clinvar/326594 ^@ NM_014646.2(LPIN2):c.*1026C>T http://identifiers.org/clinvar/324603 ^@ NM_014336.4(AIPL1):c.*151_*152delAA http://identifiers.org/clinvar/324605 ^@ NM_014336.4(AIPL1):c.*150A>C http://identifiers.org/clinvar/326600 ^@ NM_014646.2(LPIN2):c.*834G>A http://identifiers.org/clinvar/326605 ^@ NM_014646.2(LPIN2):c.*797T>G http://identifiers.org/clinvar/326607 ^@ NM_014646.2(LPIN2):c.*792G>C http://identifiers.org/clinvar/340296 ^@ NM_130445.3(COL18A1):c.*852G>C http://identifiers.org/clinvar/340297 ^@ NM_130445.3(COL18A1):c.*864C>A http://identifiers.org/clinvar/324612 ^@ NM_014336.4(AIPL1):c.785-11G>A http://identifiers.org/clinvar/326614 ^@ NM_014646.2(LPIN2):c.*657A>C http://identifiers.org/clinvar/340298 ^@ NM_130445.3(COL18A1):c.*866C>T http://identifiers.org/clinvar/324614 ^@ NM_014336.4(AIPL1):c.737A>C (p.Tyr246Ser) http://identifiers.org/clinvar/324615 ^@ NM_014336.4(AIPL1):c.642+14G>A http://identifiers.org/clinvar/326623 ^@ NM_014646.2(LPIN2):c.*358G>A http://identifiers.org/clinvar/324619 ^@ NM_014336.4(AIPL1):c.389A>G (p.His130Arg) http://identifiers.org/clinvar/324623 ^@ NM_014336.4(AIPL1):c.73C>A (p.Pro25Thr) http://identifiers.org/clinvar/326625 ^@ NM_014646.2(LPIN2):c.*252G>A http://identifiers.org/clinvar/340322 ^@ NM_001848.2(COL6A1):c.1741-13G>A http://identifiers.org/clinvar/324561 ^@ NM_007215.3(POLG2):c.358G>A (p.Val120Met) http://identifiers.org/clinvar/324562 ^@ NM_007215.3(POLG2):c.-61G>A http://identifiers.org/clinvar/324654 ^@ NM_031220.3(PITPNM3):c.*3708G>A http://identifiers.org/clinvar/324655 ^@ NM_031220.3(PITPNM3):c.*3707G>A http://identifiers.org/clinvar/340323 ^@ NM_001848.2(COL6A1):c.1770G>A (p.Gly590=) http://identifiers.org/clinvar/340326 ^@ NM_001848.2(COL6A1):c.1980G>A (p.Ala660=) http://identifiers.org/clinvar/326627 ^@ NM_014646.2(LPIN2):c.*217G>T http://identifiers.org/clinvar/340330 ^@ NM_001848.2(COL6A1):c.*13G>A http://identifiers.org/clinvar/324673 ^@ NM_031220.3(PITPNM3):c.*3446_*3452delGGCGGGCinsTGGCGGGGG http://identifiers.org/clinvar/326633 ^@ NM_014646.2(LPIN2):c.2657C>T (p.Pro886Leu) http://identifiers.org/clinvar/340333 ^@ NM_001848.2(COL6A1):c.*145C>T http://identifiers.org/clinvar/324671 ^@ NM_031220.3(PITPNM3):c.*3445_*3446insT http://identifiers.org/clinvar/326636 ^@ NM_014646.2(LPIN2):c.1796C>T (p.Pro599Leu) http://identifiers.org/clinvar/340338 ^@ NM_001848.2(COL6A1):c.*302G>T http://identifiers.org/clinvar/324679 ^@ NM_031220.3(PITPNM3):c.*3342C>T http://identifiers.org/clinvar/324697 ^@ NM_031220.3(PITPNM3):c.*2377_*2378delAG http://identifiers.org/clinvar/340345 ^@ NM_001848.2(COL6A1):c.*558_*560delCTC http://identifiers.org/clinvar/340347 ^@ NM_001848.2(COL6A1):c.*633T>C http://identifiers.org/clinvar/324703 ^@ NM_031220.3(PITPNM3):c.*2330_*2335delGAGAGA http://identifiers.org/clinvar/324704 ^@ NM_031220.3(PITPNM3):c.*2305_*2308delACAG http://identifiers.org/clinvar/340356 ^@ NM_001848.2(COL6A1):c.*887C>T http://identifiers.org/clinvar/340357 ^@ NM_001848.2(COL6A1):c.*940C>T http://identifiers.org/clinvar/324706 ^@ NM_031220.3(PITPNM3):c.*2302A>C http://identifiers.org/clinvar/326641 ^@ NM_014646.2(LPIN2):c.1247C>T (p.Ala416Val) http://identifiers.org/clinvar/340361 ^@ NM_001849.3(COL6A2):c.542G>A (p.Arg181His) http://identifiers.org/clinvar/324708 ^@ NM_031220.3(PITPNM3):c.*2212_*2213dupAG http://identifiers.org/clinvar/326650 ^@ NM_014646.2(LPIN2):c.-10+12T>C http://identifiers.org/clinvar/340369 ^@ NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) http://identifiers.org/clinvar/326656 ^@ NM_014646.2(LPIN2):c.-160C>T http://identifiers.org/clinvar/324710 ^@ NM_031220.3(PITPNM3):c.*2203G>A http://identifiers.org/clinvar/340380 ^@ NM_001849.3(COL6A2):c.2575G>A (p.Val859Met) http://identifiers.org/clinvar/326659 ^@ NM_014646.2(LPIN2):c.-209G>A http://identifiers.org/clinvar/326358 ^@ NM_024422.4(DSC2):c.*1923C>A http://identifiers.org/clinvar/340385 ^@ NM_001849.3(COL6A2):c.2917G>A (p.Val973Met) http://identifiers.org/clinvar/326363 ^@ NM_024422.4(DSC2):c.*1475G>C http://identifiers.org/clinvar/324718 ^@ NM_031220.3(PITPNM3):c.*1840C>T http://identifiers.org/clinvar/324719 ^@ NM_031220.3(PITPNM3):c.*1733C>A http://identifiers.org/clinvar/324720 ^@ NM_031220.3(PITPNM3):c.*1673G>A http://identifiers.org/clinvar/326373 ^@ NM_024422.4(DSC2):c.*1096T>C http://identifiers.org/clinvar/326378 ^@ NM_024422.4(DSC2):c.*784G>T http://identifiers.org/clinvar/324722 ^@ NM_031220.3(PITPNM3):c.*1617A>G http://identifiers.org/clinvar/340386 ^@ NM_001849.3(COL6A2):c.2978G>A (p.Arg993His) http://identifiers.org/clinvar/340389 ^@ NM_001849.3(COL6A2):c.3034G>A (p.Asp1012Asn) http://identifiers.org/clinvar/340395 ^@ NM_001849.3(COL6A2):c.*88G>C http://identifiers.org/clinvar/326382 ^@ NM_024422.4(DSC2):c.*715_*716delCT http://identifiers.org/clinvar/324724 ^@ NM_031220.3(PITPNM3):c.*1299C>T http://identifiers.org/clinvar/340401 ^@ NM_001849.3(COL6A2):c.*139G>A http://identifiers.org/clinvar/326383 ^@ NM_024422.4(DSC2):c.*705G>A http://identifiers.org/clinvar/324726 ^@ NM_031220.3(PITPNM3):c.*1095G>A http://identifiers.org/clinvar/324736 ^@ NM_031220.3(PITPNM3):c.*555C>T http://identifiers.org/clinvar/324737 ^@ NM_031220.3(PITPNM3):c.*484T>C http://identifiers.org/clinvar/326397 ^@ NM_024422.4(DSC2):c.1788G>A (p.Ala596=) http://identifiers.org/clinvar/340406 ^@ NM_006657.2(FTCD):c.*114A>G http://identifiers.org/clinvar/340408 ^@ NM_006657.2(FTCD):c.*67C>T http://identifiers.org/clinvar/324739 ^@ NM_031220.3(PITPNM3):c.*198G>A http://identifiers.org/clinvar/324744 ^@ NM_031220.3(PITPNM3):c.2307-12C>A http://identifiers.org/clinvar/324745 ^@ NM_031220.3(PITPNM3):c.2307-13delG http://identifiers.org/clinvar/326399 ^@ NM_024422.4(DSC2):c.-20A>C http://identifiers.org/clinvar/326400 ^@ NM_024422.4(DSC2):c.-42C>T http://identifiers.org/clinvar/326410 ^@ NM_177986.4(DSG4):c.-66G>A http://identifiers.org/clinvar/324754 ^@ NM_031220.3(PITPNM3):c.1128G>A (p.Ala376=) http://identifiers.org/clinvar/324758 ^@ NM_031220.3(PITPNM3):c.913G>T (p.Ala305Ser) http://identifiers.org/clinvar/326411 ^@ NM_177986.4(DSG4):c.-52G>A http://identifiers.org/clinvar/340410 ^@ NM_006657.2(FTCD):c.*15C>A http://identifiers.org/clinvar/340414 ^@ NM_006657.2(FTCD):c.1470C>T (p.Gly490=) http://identifiers.org/clinvar/340420 ^@ NM_006657.2(FTCD):c.1271G>A (p.Arg424Lys) http://identifiers.org/clinvar/340422 ^@ NM_006657.2(FTCD):c.1220C>A (p.Thr407Lys) http://identifiers.org/clinvar/324765 ^@ NM_031220.3(PITPNM3):c.330C>T (p.Ile110=) http://identifiers.org/clinvar/340425 ^@ NM_006657.2(FTCD):c.1122G>A (p.Val374=) http://identifiers.org/clinvar/340428 ^@ NM_006657.2(FTCD):c.750C>T (p.Tyr250=) http://identifiers.org/clinvar/326412 ^@ NM_177986.4(DSG4):c.-43A>G http://identifiers.org/clinvar/324768 ^@ NM_031220.3(PITPNM3):c.226+9C>G http://identifiers.org/clinvar/324631 ^@ NM_004655.3(AXIN2):c.*957T>G http://identifiers.org/clinvar/324632 ^@ NM_004655.3(AXIN2):c.*846G>A http://identifiers.org/clinvar/326418 ^@ NM_177986.4(DSG4):c.258G>A (p.Arg86=) http://identifiers.org/clinvar/326423 ^@ NM_177986.4(DSG4):c.590A>G (p.Lys197Arg) http://identifiers.org/clinvar/324636 ^@ NM_004655.3(AXIN2):c.*469T>C http://identifiers.org/clinvar/340436 ^@ NM_006657.2(FTCD):c.407G>A (p.Arg136Gln) http://identifiers.org/clinvar/326425 ^@ NM_177986.4(DSG4):c.715G>A (p.Gly239Ser) http://identifiers.org/clinvar/340437 ^@ NM_006657.2(FTCD):c.382G>A (p.Glu128Lys) http://identifiers.org/clinvar/326428 ^@ NM_177986.4(DSG4):c.920A>G (p.Tyr307Cys) http://identifiers.org/clinvar/326446 ^@ NM_177986.4(DSG4):c.2293A>G (p.Thr765Ala) http://identifiers.org/clinvar/340438 ^@ NM_006657.2(FTCD):c.378C>T (p.Tyr126=) http://identifiers.org/clinvar/324639 ^@ NM_004655.3(AXIN2):c.*309C>A http://identifiers.org/clinvar/340446 ^@ NM_006657.2(FTCD):c.153C>T (p.Phe51=) http://identifiers.org/clinvar/340457 ^@ NM_006031.5(PCNT):c.-35T>A http://identifiers.org/clinvar/326472 ^@ NM_001943.4(DSG2):c.147C>T (p.Arg49=) http://identifiers.org/clinvar/324647 ^@ NM_004655.3(AXIN2):c.1443C>T (p.Leu481=) http://identifiers.org/clinvar/324651 ^@ NM_004655.3(AXIN2):c.897C>T (p.Asp299=) http://identifiers.org/clinvar/326482 ^@ NM_001943.4(DSG2):c.2019G>C (p.Leu673=) http://identifiers.org/clinvar/326485 ^@ NM_001943.4(DSG2):c.2405A>G (p.Glu802Gly) http://identifiers.org/clinvar/324682 ^@ NM_004655.3(AXIN2):c.629T>C (p.Met210Thr) http://identifiers.org/clinvar/324688 ^@ NM_004655.3(AXIN2):c.-117+14C>T http://identifiers.org/clinvar/324689 ^@ NM_004655.3(AXIN2):c.-117+11A>T http://identifiers.org/clinvar/340458 ^@ NM_006031.5(PCNT):c.-25G>C http://identifiers.org/clinvar/340463 ^@ NM_006031.5(PCNT):c.721-5C>T http://identifiers.org/clinvar/340477 ^@ NM_006031.5(PCNT):c.2444C>T (p.Thr815Met) http://identifiers.org/clinvar/340481 ^@ NM_006031.5(PCNT):c.3206A>G (p.Lys1069Arg) http://identifiers.org/clinvar/326487 ^@ NM_001943.4(DSG2):c.2802A>G (p.Ile934Met) http://identifiers.org/clinvar/326491 ^@ NM_001943.4(DSG2):c.*25delC http://identifiers.org/clinvar/340485 ^@ NM_006031.5(PCNT):c.3714G>C (p.Met1238Ile) http://identifiers.org/clinvar/340486 ^@ NM_006031.5(PCNT):c.3716G>A (p.Arg1239His) http://identifiers.org/clinvar/326492 ^@ NM_001943.4(DSG2):c.*96C>G http://identifiers.org/clinvar/340489 ^@ NM_006031.5(PCNT):c.4378G>A (p.Val1460Ile) http://identifiers.org/clinvar/324691 ^@ NM_004655.3(AXIN2):c.-181T>G http://identifiers.org/clinvar/340490 ^@ NM_006031.5(PCNT):c.4387C>A (p.Leu1463Met) http://identifiers.org/clinvar/326497 ^@ NM_001943.4(DSG2):c.*289A>G http://identifiers.org/clinvar/324773 ^@ NM_031220.3(PITPNM3):c.-24C>T http://identifiers.org/clinvar/324775 ^@ NM_031220.3(PITPNM3):c.-129C>T http://identifiers.org/clinvar/324781 ^@ NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) http://identifiers.org/clinvar/324782 ^@ NM_002734.4(PRKAR1A):c.309G>A (p.Glu103=) http://identifiers.org/clinvar/340494 ^@ NM_006031.5(PCNT):c.4605G>T (p.Lys1535Asn) http://identifiers.org/clinvar/340496 ^@ NM_006031.5(PCNT):c.4838C>T (p.Ala1613Val) http://identifiers.org/clinvar/340501 ^@ NM_006031.5(PCNT):c.5477G>C (p.Gly1826Ala) http://identifiers.org/clinvar/324787 ^@ NM_002734.4(PRKAR1A):c.*172_*175delCTAA http://identifiers.org/clinvar/326502 ^@ NM_001943.4(DSG2):c.*422C>T http://identifiers.org/clinvar/326505 ^@ NM_001943.4(DSG2):c.*599_*600delAG http://identifiers.org/clinvar/326510 ^@ NM_001943.4(DSG2):c.*705G>A http://identifiers.org/clinvar/340503 ^@ NM_006031.5(PCNT):c.5582C>T (p.Ala1861Val) http://identifiers.org/clinvar/340508 ^@ NM_006031.5(PCNT):c.5792G>A (p.Arg1931His) http://identifiers.org/clinvar/340509 ^@ NM_006031.5(PCNT):c.5792G>T (p.Arg1931Leu) http://identifiers.org/clinvar/324788 ^@ NM_002734.4(PRKAR1A):c.*389T>G http://identifiers.org/clinvar/340515 ^@ NM_006031.5(PCNT):c.6395A>G (p.Asn2132Ser) http://identifiers.org/clinvar/340517 ^@ NM_006031.5(PCNT):c.6468A>G (p.Pro2156=) http://identifiers.org/clinvar/326514 ^@ NM_001943.4(DSG2):c.*859G>A http://identifiers.org/clinvar/326517 ^@ NM_001943.4(DSG2):c.*932_*933insA http://identifiers.org/clinvar/324790 ^@ NM_002734.4(PRKAR1A):c.*587dupT http://identifiers.org/clinvar/324793 ^@ NM_002734.4(PRKAR1A):c.*704T>G http://identifiers.org/clinvar/326518 ^@ NM_001943.4(DSG2):c.*944dupA http://identifiers.org/clinvar/340518 ^@ NM_006031.5(PCNT):c.6585C>T (p.Ser2195=) http://identifiers.org/clinvar/326521 ^@ NM_001943.4(DSG2):c.*989C>T http://identifiers.org/clinvar/340533 ^@ NM_006031.5(PCNT):c.8116G>A (p.Val2706Met) http://identifiers.org/clinvar/340543 ^@ NM_006031.5(PCNT):c.9278C>G (p.Ser3093Trp) http://identifiers.org/clinvar/340553 ^@ NM_006031.5(PCNT):c.*421A>G http://identifiers.org/clinvar/326522 ^@ NM_001943.4(DSG2):c.*990G>A http://identifiers.org/clinvar/340557 ^@ NM_014339.6(IL17RA):c.-50T>C http://identifiers.org/clinvar/324801 ^@ NM_002734.4(PRKAR1A):c.*893G>C http://identifiers.org/clinvar/324802 ^@ NM_002734.4(PRKAR1A):c.*1014A>G http://identifiers.org/clinvar/324806 ^@ NM_002734.4(PRKAR1A):c.*1212T>G http://identifiers.org/clinvar/324811 ^@ NM_002734.4(PRKAR1A):c.*1777C>T http://identifiers.org/clinvar/340563 ^@ NM_014339.6(IL17RA):c.36G>T (p.Pro12=) http://identifiers.org/clinvar/340564 ^@ NM_014339.6(IL17RA):c.138+12C>T http://identifiers.org/clinvar/324813 ^@ NM_002734.4(PRKAR1A):c.*1837G>T http://identifiers.org/clinvar/326524 ^@ NM_001943.4(DSG2):c.*1036C>G http://identifiers.org/clinvar/326531 ^@ NM_001943.4(DSG2):c.*1471T>C http://identifiers.org/clinvar/326538 ^@ NM_001943.4(DSG2):c.*1844A>G http://identifiers.org/clinvar/326545 ^@ NM_000371.3(TTR):c.11_13dupATC (p.His4_Arg5insHis) http://identifiers.org/clinvar/340565 ^@ NM_014339.6(IL17RA):c.152C>T (p.Thr51Met) http://identifiers.org/clinvar/326567 ^@ NM_000371.3(TTR):c.*191C>T http://identifiers.org/clinvar/340569 ^@ NM_014339.6(IL17RA):c.355C>A (p.Leu119Met) http://identifiers.org/clinvar/340570 ^@ NM_014339.6(IL17RA):c.422G>A (p.Arg141Gln) http://identifiers.org/clinvar/324821 ^@ NM_002734.4(PRKAR1A):c.*2197G>A http://identifiers.org/clinvar/326568 ^@ NM_000371.3(TTR):c.*304C>T http://identifiers.org/clinvar/326569 ^@ NM_000371.3(TTR):c.*345G>A http://identifiers.org/clinvar/326710 ^@ NM_173208.2(TGIF1):c.723G>A (p.Pro241=) http://identifiers.org/clinvar/326712 ^@ NM_173208.2(TGIF1):c.*133A>G http://identifiers.org/clinvar/326714 ^@ NM_173208.2(TGIF1):c.*336T>C http://identifiers.org/clinvar/340575 ^@ NM_014339.6(IL17RA):c.561C>T (p.His187=) http://identifiers.org/clinvar/340584 ^@ NM_014339.6(IL17RA):c.894C>T (p.Ser298=) http://identifiers.org/clinvar/326716 ^@ NM_173208.2(TGIF1):c.*441delT http://identifiers.org/clinvar/326662 ^@ NM_032978.6(DTNA):c.363-9A>G http://identifiers.org/clinvar/340588 ^@ NM_014339.6(IL17RA):c.1045+6C>T http://identifiers.org/clinvar/340590 ^@ NM_014339.6(IL17RA):c.1046G>C (p.Gly349Ala) http://identifiers.org/clinvar/326681 ^@ NM_032978.6(DTNA):c.*726dupT http://identifiers.org/clinvar/324831 ^@ NM_000891.2(KCNJ2):c.344C>T (p.Ala115Val) http://identifiers.org/clinvar/324852 ^@ NM_000891.2(KCNJ2):c.*1198A>G http://identifiers.org/clinvar/340593 ^@ NM_014339.6(IL17RA):c.1167C>G (p.Pro389=) http://identifiers.org/clinvar/324854 ^@ NM_000891.2(KCNJ2):c.*1267A>G http://identifiers.org/clinvar/340599 ^@ NM_014339.6(IL17RA):c.1486T>C (p.Phe496Leu) http://identifiers.org/clinvar/340600 ^@ NM_014339.6(IL17RA):c.1530C>T (p.Asp510=) http://identifiers.org/clinvar/326682 ^@ NM_032978.6(DTNA):c.*735A>G http://identifiers.org/clinvar/324859 ^@ NM_000891.2(KCNJ2):c.*1596A>C http://identifiers.org/clinvar/326688 ^@ NM_032978.6(DTNA):c.*1044T>G http://identifiers.org/clinvar/340609 ^@ NM_014339.6(IL17RA):c.2177C>T (p.Ser726Leu) http://identifiers.org/clinvar/326690 ^@ NM_032978.6(DTNA):c.*1267T>C http://identifiers.org/clinvar/340610 ^@ NM_014339.6(IL17RA):c.2245G>A (p.Glu749Lys) http://identifiers.org/clinvar/326691 ^@ NM_032978.6(DTNA):c.*1468G>C http://identifiers.org/clinvar/326693 ^@ NM_032978.6(DTNA):c.*1569A>G http://identifiers.org/clinvar/324863 ^@ NM_000891.2(KCNJ2):c.*1702dupC http://identifiers.org/clinvar/340627 ^@ NM_014339.6(IL17RA):c.*696delA http://identifiers.org/clinvar/326698 ^@ NM_032978.6(DTNA):c.*1726G>A http://identifiers.org/clinvar/326700 ^@ NM_032978.6(DTNA):c.*1830_*1832delCAC http://identifiers.org/clinvar/326701 ^@ NM_032978.6(DTNA):c.*2009delA http://identifiers.org/clinvar/326705 ^@ NM_032978.6(DTNA):c.*2280dupT http://identifiers.org/clinvar/340628 ^@ NM_014339.6(IL17RA):c.*697delG http://identifiers.org/clinvar/340631 ^@ NM_014339.6(IL17RA):c.*973A>G http://identifiers.org/clinvar/340639 ^@ NM_014339.6(IL17RA):c.*1310A>G http://identifiers.org/clinvar/340644 ^@ NM_014339.6(IL17RA):c.*1641C>T http://identifiers.org/clinvar/324875 ^@ NM_000891.2(KCNJ2):c.*2526A>G http://identifiers.org/clinvar/326719 ^@ NM_015559.2(SETBP1):c.-248G>T http://identifiers.org/clinvar/326726 ^@ NM_015559.2(SETBP1):c.685G>A (p.Gly229Arg) http://identifiers.org/clinvar/326734 ^@ NM_015559.2(SETBP1):c.1037C>T (p.Thr346Ile) http://identifiers.org/clinvar/326736 ^@ NM_015559.2(SETBP1):c.1158C>T (p.Asn386=) http://identifiers.org/clinvar/324876 ^@ NM_000891.2(KCNJ2):c.*2616A>G http://identifiers.org/clinvar/340645 ^@ NM_014339.6(IL17RA):c.*1686G>A http://identifiers.org/clinvar/324877 ^@ NM_000891.2(KCNJ2):c.*2663T>C http://identifiers.org/clinvar/340653 ^@ NM_014339.6(IL17RA):c.*2314A>G http://identifiers.org/clinvar/326741 ^@ NM_015559.2(SETBP1):c.1552C>T (p.Leu518=) http://identifiers.org/clinvar/326744 ^@ NM_015559.2(SETBP1):c.1879C>T (p.Arg627Cys) http://identifiers.org/clinvar/324882 ^@ NM_000891.2(KCNJ2):c.*2771_*2775delTTTTT http://identifiers.org/clinvar/326749 ^@ NM_015559.2(SETBP1):c.2948C>G (p.Pro983Arg) http://identifiers.org/clinvar/340668 ^@ NM_014339.6(IL17RA):c.*2859C>T http://identifiers.org/clinvar/326751 ^@ NM_015559.2(SETBP1):c.3561C>T (p.Ser1187=) http://identifiers.org/clinvar/326752 ^@ NM_015559.2(SETBP1):c.3576C>T (p.Ser1192=) http://identifiers.org/clinvar/324881 ^@ NM_000891.2(KCNJ2):c.*2772_*2775delTTTT http://identifiers.org/clinvar/340670 ^@ NM_014339.6(IL17RA):c.*2975G>A http://identifiers.org/clinvar/340671 ^@ NM_014339.6(IL17RA):c.*3060A>G http://identifiers.org/clinvar/340688 ^@ NM_014339.6(IL17RA):c.*3597G>A http://identifiers.org/clinvar/326758 ^@ NM_015559.2(SETBP1):c.4096G>A (p.Ala1366Thr) http://identifiers.org/clinvar/326765 ^@ NM_015559.2(SETBP1):c.*456C>A http://identifiers.org/clinvar/326772 ^@ NM_015559.2(SETBP1):c.*1163G>A http://identifiers.org/clinvar/326779 ^@ NM_015559.2(SETBP1):c.*1817A>G http://identifiers.org/clinvar/340689 ^@ NM_014339.6(IL17RA):c.*3667C>T http://identifiers.org/clinvar/340696 ^@ NM_014339.6(IL17RA):c.*3913C>T http://identifiers.org/clinvar/326788 ^@ NM_015559.2(SETBP1):c.*2791A>G http://identifiers.org/clinvar/340700 ^@ NM_014339.6(IL17RA):c.*3999G>A http://identifiers.org/clinvar/324891 ^@ NM_000891.2(KCNJ2):c.*3208A>G http://identifiers.org/clinvar/326791 ^@ NM_015559.2(SETBP1):c.*2901A>C http://identifiers.org/clinvar/326796 ^@ NM_015559.2(SETBP1):c.*2987delT http://identifiers.org/clinvar/326797 ^@ NM_015559.2(SETBP1):c.*2988delG http://identifiers.org/clinvar/324893 ^@ NM_000891.2(KCNJ2):c.*3353C>T http://identifiers.org/clinvar/324896 ^@ NM_000891.2(KCNJ2):c.*3496T>C http://identifiers.org/clinvar/326818 ^@ NM_015559.2(SETBP1):c.*4259A>T http://identifiers.org/clinvar/324905 ^@ NM_000346.3(SOX9):c.-132G>A http://identifiers.org/clinvar/326819 ^@ NM_015559.2(SETBP1):c.*4510T>C http://identifiers.org/clinvar/340717 ^@ NM_014339.6(IL17RA):c.*4767_*4769delGAG http://identifiers.org/clinvar/326824 ^@ NM_144612.6(LOXHD1):c.*73A>T http://identifiers.org/clinvar/340723 ^@ NM_014339.6(IL17RA):c.*5061C>T http://identifiers.org/clinvar/326831 ^@ NM_144612.6(LOXHD1):c.5799C>T (p.Asp1933=) http://identifiers.org/clinvar/324907 ^@ NM_000346.3(SOX9):c.-83G>A http://identifiers.org/clinvar/324915 ^@ NM_000346.3(SOX9):c.920C>G (p.Pro307Arg) http://identifiers.org/clinvar/324930 ^@ NM_000346.3(SOX9):c.*744delA http://identifiers.org/clinvar/324931 ^@ NM_000346.3(SOX9):c.*811A>G http://identifiers.org/clinvar/326832 ^@ NM_144612.6(LOXHD1):c.5743C>T (p.Arg1915Cys) http://identifiers.org/clinvar/340724 ^@ NM_014339.6(IL17RA):c.*5164C>T http://identifiers.org/clinvar/340727 ^@ NM_014339.6(IL17RA):c.*5256C>T http://identifiers.org/clinvar/340729 ^@ NM_014339.6(IL17RA):c.*5314T>C http://identifiers.org/clinvar/324932 ^@ NM_000346.3(SOX9):c.*906T>G http://identifiers.org/clinvar/326838 ^@ NM_144612.6(LOXHD1):c.4743G>A (p.Glu1581=) http://identifiers.org/clinvar/340732 ^@ NM_014339.6(IL17RA):c.*5519T>C http://identifiers.org/clinvar/340745 ^@ NM_017929.5(PEX26):c.-148C>T http://identifiers.org/clinvar/324937 ^@ NM_000346.3(SOX9):c.*1014C>G http://identifiers.org/clinvar/340750 ^@ NM_017929.5(PEX26):c.153C>A (p.Phe51Leu) http://identifiers.org/clinvar/340751 ^@ NM_017929.5(PEX26):c.207C>T (p.Ala69=) http://identifiers.org/clinvar/340752 ^@ NM_017929.5(PEX26):c.208G>T (p.Val70Leu) http://identifiers.org/clinvar/326841 ^@ NM_144612.6(LOXHD1):c.4428G>A (p.Thr1476=) http://identifiers.org/clinvar/324938 ^@ NM_000346.3(SOX9):c.*1140A>T http://identifiers.org/clinvar/326852 ^@ NM_144612.6(LOXHD1):c.3016G>A (p.Glu1006Lys) http://identifiers.org/clinvar/340754 ^@ NM_017929.5(PEX26):c.625G>T (p.Glu209Ter) http://identifiers.org/clinvar/340757 ^@ NM_017929.5(PEX26):c.*112C>T http://identifiers.org/clinvar/326855 ^@ NM_144612.6(LOXHD1):c.2839G>A (p.Asp947Asn) http://identifiers.org/clinvar/326858 ^@ NM_144612.6(LOXHD1):c.2575C>T (p.Arg859Trp) http://identifiers.org/clinvar/340761 ^@ NM_017929.5(PEX26):c.*167G>A http://identifiers.org/clinvar/340762 ^@ NM_017929.5(PEX26):c.*280G>A http://identifiers.org/clinvar/340763 ^@ NM_017929.5(PEX26):c.*400C>T http://identifiers.org/clinvar/340766 ^@ NM_017929.5(PEX26):c.*568G>A http://identifiers.org/clinvar/324939 ^@ NM_000346.3(SOX9):c.*1164delA http://identifiers.org/clinvar/326863 ^@ NM_144612.6(LOXHD1):c.2245-13G>A http://identifiers.org/clinvar/340771 ^@ NM_017929.5(PEX26):c.*828C>T http://identifiers.org/clinvar/340782 ^@ NM_017929.5(PEX26):c.*1136G>A http://identifiers.org/clinvar/340783 ^@ NM_017929.5(PEX26):c.*1152G>C http://identifiers.org/clinvar/326865 ^@ NM_144612.6(LOXHD1):c.1887C>T (p.Ser629=) http://identifiers.org/clinvar/340788 ^@ NM_017929.5(PEX26):c.*1532_*1535dupTGGT http://identifiers.org/clinvar/340792 ^@ NM_017929.5(PEX26):c.*1623G>T http://identifiers.org/clinvar/326871 ^@ NM_144612.6(LOXHD1):c.1500T>C (p.Ser500=) http://identifiers.org/clinvar/324941 ^@ NM_000346.3(SOX9):c.*1183delT http://identifiers.org/clinvar/326877 ^@ NM_144612.6(LOXHD1):c.611-8G>A http://identifiers.org/clinvar/326883 ^@ NM_144612.6(LOXHD1):c.245+5G>A http://identifiers.org/clinvar/326884 ^@ NM_144612.6(LOXHD1):c.5T>C (p.Met2Thr) http://identifiers.org/clinvar/340794 ^@ NM_017929.5(PEX26):c.*1635G>C http://identifiers.org/clinvar/324943 ^@ NM_000346.3(SOX9):c.*1521T>G http://identifiers.org/clinvar/340791 ^@ NM_017929.5(PEX26):c.*1643_*1646dupGTTT http://identifiers.org/clinvar/326885 ^@ NM_017653.3(DYM):c.*123G>A http://identifiers.org/clinvar/340803 ^@ NM_017929.5(PEX26):c.*2051A>G http://identifiers.org/clinvar/340809 ^@ NM_017929.5(PEX26):c.*2311G>T http://identifiers.org/clinvar/324944 ^@ NM_000346.3(SOX9):c.*1580G>A http://identifiers.org/clinvar/326887 ^@ NM_017653.3(DYM):c.*12T>C http://identifiers.org/clinvar/326888 ^@ NM_017653.3(DYM):c.1999G>T (p.Asp667Tyr) http://identifiers.org/clinvar/326889 ^@ NM_017653.3(DYM):c.1888G>A (p.Val630Met) http://identifiers.org/clinvar/326892 ^@ NM_017653.3(DYM):c.1759T>C (p.Phe587Leu) http://identifiers.org/clinvar/324947 ^@ NM_000346.3(SOX9):c.*1877G>A http://identifiers.org/clinvar/324948 ^@ NM_000346.3(SOX9):c.*1989dupT http://identifiers.org/clinvar/326897 ^@ NM_017653.3(DYM):c.1115T>C (p.Met372Thr) http://identifiers.org/clinvar/324983 ^@ NM_000018.3(ACADVL):c.180G>C (p.Leu60=) http://identifiers.org/clinvar/324986 ^@ NM_000018.3(ACADVL):c.278T>C (p.Val93Ala) http://identifiers.org/clinvar/324990 ^@ NM_000018.3(ACADVL):c.969G>A (p.Leu323=) http://identifiers.org/clinvar/340815 ^@ NM_017929.5(PEX26):c.*2701G>C http://identifiers.org/clinvar/324992 ^@ NM_000018.3(ACADVL):c.1005C>A (p.His335Gln) http://identifiers.org/clinvar/326898 ^@ NM_017653.3(DYM):c.980C>A (p.Ala327Asp) http://identifiers.org/clinvar/324994 ^@ NM_000018.3(ACADVL):c.1473A>G (p.Leu491=) http://identifiers.org/clinvar/324953 ^@ NM_018714.2(COG1):c.-18G>T http://identifiers.org/clinvar/326905 ^@ NM_017653.3(DYM):c.321G>A (p.Leu107=) http://identifiers.org/clinvar/340816 ^@ NM_017929.5(PEX26):c.*2724G>C http://identifiers.org/clinvar/326909 ^@ NM_017653.3(DYM):c.21A>T (p.Arg7Ser) http://identifiers.org/clinvar/326915 ^@ NM_017653.3(DYM):c.-238G>T http://identifiers.org/clinvar/326921 ^@ NM_001080467.2(MYO5B):c.*3338_*3339insAAAG http://identifiers.org/clinvar/340823 ^@ NM_004782.3(SNAP29):c.-68A>T http://identifiers.org/clinvar/326925 ^@ NM_001080467.2(MYO5B):c.*3273G>A http://identifiers.org/clinvar/326927 ^@ NM_001080467.2(MYO5B):c.*3161A>C http://identifiers.org/clinvar/324955 ^@ NM_018714.2(COG1):c.58G>C (p.Ala20Pro) http://identifiers.org/clinvar/326929 ^@ NM_001080467.2(MYO5B):c.*3149A>C http://identifiers.org/clinvar/340824 ^@ NM_004782.3(SNAP29):c.-40T>G http://identifiers.org/clinvar/326935 ^@ NM_001080467.2(MYO5B):c.*2960T>C http://identifiers.org/clinvar/340831 ^@ NM_004782.3(SNAP29):c.130T>C (p.Tyr44His) http://identifiers.org/clinvar/326936 ^@ NM_001080467.2(MYO5B):c.*2912T>C http://identifiers.org/clinvar/326939 ^@ NM_001080467.2(MYO5B):c.*2695A>G http://identifiers.org/clinvar/340832 ^@ NM_004782.3(SNAP29):c.234C>G (p.Ser78=) http://identifiers.org/clinvar/340834 ^@ NM_004782.3(SNAP29):c.502A>G (p.Arg168Gly) http://identifiers.org/clinvar/326940 ^@ NM_001080467.2(MYO5B):c.*2693T>C http://identifiers.org/clinvar/324963 ^@ NM_018714.2(COG1):c.560+15C>T http://identifiers.org/clinvar/324967 ^@ NM_018714.2(COG1):c.1157T>C (p.Met386Thr) http://identifiers.org/clinvar/340836 ^@ NM_004782.3(SNAP29):c.580C>T (p.His194Tyr) http://identifiers.org/clinvar/324968 ^@ NM_018714.2(COG1):c.1230G>A (p.Pro410=) http://identifiers.org/clinvar/326942 ^@ NM_001080467.2(MYO5B):c.*2645T>G http://identifiers.org/clinvar/326945 ^@ NM_001080467.2(MYO5B):c.*2397T>C http://identifiers.org/clinvar/326946 ^@ NM_001080467.2(MYO5B):c.*2293T>G http://identifiers.org/clinvar/324969 ^@ NM_018714.2(COG1):c.1282-3T>C http://identifiers.org/clinvar/340838 ^@ NM_004782.3(SNAP29):c.*123G>C http://identifiers.org/clinvar/326954 ^@ NM_001080467.2(MYO5B):c.*2158G>A http://identifiers.org/clinvar/326956 ^@ NM_001080467.2(MYO5B):c.*2088A>G http://identifiers.org/clinvar/326960 ^@ NM_001080467.2(MYO5B):c.*1921G>C http://identifiers.org/clinvar/324973 ^@ NM_018714.2(COG1):c.2619+11T>A http://identifiers.org/clinvar/340839 ^@ NM_004782.3(SNAP29):c.*138C>T http://identifiers.org/clinvar/340840 ^@ NM_004782.3(SNAP29):c.*240C>T http://identifiers.org/clinvar/324975 ^@ NM_018714.2(COG1):c.2666G>A (p.Arg889Gln) http://identifiers.org/clinvar/325004 ^@ NM_023036.4(DNAI2):c.-17C>A http://identifiers.org/clinvar/325015 ^@ NM_023036.4(DNAI2):c.949G>A (p.Ala317Thr) http://identifiers.org/clinvar/326961 ^@ NM_001080467.2(MYO5B):c.*1896C>A http://identifiers.org/clinvar/326963 ^@ NM_001080467.2(MYO5B):c.*1728A>T http://identifiers.org/clinvar/325018 ^@ NM_023036.4(DNAI2):c.1248C>T (p.Ser416=) http://identifiers.org/clinvar/340842 ^@ NM_004782.3(SNAP29):c.*420A>G http://identifiers.org/clinvar/340850 ^@ NM_004782.3(SNAP29):c.*513_*522delACACACACTC http://identifiers.org/clinvar/326968 ^@ NM_001080467.2(MYO5B):c.*1485G>A http://identifiers.org/clinvar/325022 ^@ NM_023036.4(DNAI2):c.1602T>C (p.Asp534=) http://identifiers.org/clinvar/340856 ^@ NM_004782.3(SNAP29):c.*740C>T http://identifiers.org/clinvar/326970 ^@ NM_001080467.2(MYO5B):c.*1347dupA http://identifiers.org/clinvar/326977 ^@ NM_001080467.2(MYO5B):c.*979G>A http://identifiers.org/clinvar/326988 ^@ NM_001080467.2(MYO5B):c.*334A>G http://identifiers.org/clinvar/326990 ^@ NM_001080467.2(MYO5B):c.*308C>T http://identifiers.org/clinvar/340858 ^@ NM_004782.3(SNAP29):c.*816C>T http://identifiers.org/clinvar/340867 ^@ NM_004782.3(SNAP29):c.*1570T>C http://identifiers.org/clinvar/326991 ^@ NM_001080467.2(MYO5B):c.*205A>C http://identifiers.org/clinvar/326994 ^@ NM_001080467.2(MYO5B):c.*164T>G http://identifiers.org/clinvar/340876 ^@ NM_004782.3(SNAP29):c.*2143G>A http://identifiers.org/clinvar/340881 ^@ NM_004782.3(SNAP29):c.*2304C>T http://identifiers.org/clinvar/326995 ^@ NM_001080467.2(MYO5B):c.*109delA http://identifiers.org/clinvar/325024 ^@ NM_023036.4(DNAI2):c.1743_1745delAGA (p.Glu581del) http://identifiers.org/clinvar/325075 ^@ NM_000747.2(CHRNB1):c.278C>G (p.Ala93Gly) http://identifiers.org/clinvar/325079 ^@ NM_000747.2(CHRNB1):c.565G>A (p.Gly189Arg) http://identifiers.org/clinvar/326998 ^@ NM_001080467.2(MYO5B):c.5433A>C (p.Leu1811=) http://identifiers.org/clinvar/340882 ^@ NM_004782.3(SNAP29):c.*2411T>C http://identifiers.org/clinvar/325101 ^@ NM_000747.2(CHRNB1):c.903C>T (p.Thr301=) http://identifiers.org/clinvar/327007 ^@ NM_001080467.2(MYO5B):c.4702-9C>T http://identifiers.org/clinvar/325103 ^@ NM_000747.2(CHRNB1):c.1044+9G>A http://identifiers.org/clinvar/340887 ^@ NM_004782.3(SNAP29):c.*2777G>A http://identifiers.org/clinvar/340889 ^@ NM_004782.3(SNAP29):c.*2791T>C http://identifiers.org/clinvar/325105 ^@ NM_000747.2(CHRNB1):c.1146C>G (p.Gly382=) http://identifiers.org/clinvar/325108 ^@ NM_000747.2(CHRNB1):c.*31C>T http://identifiers.org/clinvar/340900 ^@ NM_004782.3(SNAP29):c.*3035C>T http://identifiers.org/clinvar/327010 ^@ NM_001080467.2(MYO5B):c.4464G>A (p.Leu1488=) http://identifiers.org/clinvar/327011 ^@ NM_001080467.2(MYO5B):c.4460-11G>A http://identifiers.org/clinvar/327016 ^@ NM_001080467.2(MYO5B):c.4123C>G (p.Gln1375Glu) http://identifiers.org/clinvar/340901 ^@ NM_004782.3(SNAP29):c.*3107C>T http://identifiers.org/clinvar/327019 ^@ NM_001080467.2(MYO5B):c.3944+13C>T http://identifiers.org/clinvar/325113 ^@ NM_000747.2(CHRNB1):c.*433A>G http://identifiers.org/clinvar/327027 ^@ NM_001080467.2(MYO5B):c.3432G>A (p.Thr1144=) http://identifiers.org/clinvar/340903 ^@ NM_004782.3(SNAP29):c.*3193G>A http://identifiers.org/clinvar/327029 ^@ NM_001080467.2(MYO5B):c.3363C>T (p.Ile1121=) http://identifiers.org/clinvar/327030 ^@ NM_001080467.2(MYO5B):c.3276+11T>C http://identifiers.org/clinvar/340906 ^@ NM_003073.4(SMARCB1):c.-149C>T http://identifiers.org/clinvar/327031 ^@ NM_001080467.2(MYO5B):c.3163_3165dupCTC (p.Leu1055_Met1056insLeu) http://identifiers.org/clinvar/325038 ^@ NM_173477.4(USH1G):c.*1160_*1161delTG http://identifiers.org/clinvar/325039 ^@ NM_173477.4(USH1G):c.*1119G>A http://identifiers.org/clinvar/327033 ^@ NM_001080467.2(MYO5B):c.3031G>A (p.Asp1011Asn) http://identifiers.org/clinvar/327034 ^@ NM_001080467.2(MYO5B):c.2947G>C (p.Glu983Gln) http://identifiers.org/clinvar/327037 ^@ NM_001080467.2(MYO5B):c.2803G>A (p.Asp935Asn) http://identifiers.org/clinvar/325044 ^@ NM_173477.4(USH1G):c.*571T>A http://identifiers.org/clinvar/340911 ^@ NM_003073.4(SMARCB1):c.-17C>T http://identifiers.org/clinvar/327041 ^@ NM_001080467.2(MYO5B):c.2590G>A (p.Ala864Thr) http://identifiers.org/clinvar/340915 ^@ NM_003073.4(SMARCB1):c.987-4G>C http://identifiers.org/clinvar/340921 ^@ NM_003073.4(SMARCB1):c.*279G>A http://identifiers.org/clinvar/325048 ^@ NM_173477.4(USH1G):c.*279G>T http://identifiers.org/clinvar/325056 ^@ NM_173477.4(USH1G):c.474C>G (p.His158Gln) http://identifiers.org/clinvar/325057 ^@ NM_173477.4(USH1G):c.436C>T (p.Arg146Cys) http://identifiers.org/clinvar/340927 ^@ NM_016327.2(UPB1):c.-7C>G http://identifiers.org/clinvar/340932 ^@ NM_016327.2(UPB1):c.384T>C (p.Cys128=) http://identifiers.org/clinvar/327047 ^@ NM_001080467.2(MYO5B):c.2231C>T (p.Thr744Ile) http://identifiers.org/clinvar/325061 ^@ NM_021734.4(SLC25A19):c.*437T>G http://identifiers.org/clinvar/340933 ^@ NM_016327.2(UPB1):c.464C>T (p.Ala155Val) http://identifiers.org/clinvar/325068 ^@ NM_021734.4(SLC25A19):c.20A>G (p.Lys7Arg) http://identifiers.org/clinvar/340938 ^@ NM_016327.2(UPB1):c.1122G>A (p.Lys374=) http://identifiers.org/clinvar/340947 ^@ NM_004076.4(CRYBB3):c.-20-13T>C http://identifiers.org/clinvar/340950 ^@ NM_004076.4(CRYBB3):c.144G>A (p.Leu48=) http://identifiers.org/clinvar/327048 ^@ NM_001080467.2(MYO5B):c.2228G>A (p.Arg743His) http://identifiers.org/clinvar/340956 ^@ NM_004076.4(CRYBB3):c.567G>A (p.Pro189=) http://identifiers.org/clinvar/325069 ^@ NM_021734.4(SLC25A19):c.-139T>G http://identifiers.org/clinvar/327051 ^@ NM_001080467.2(MYO5B):c.2090+15C>T http://identifiers.org/clinvar/340960 ^@ NM_004076.4(CRYBB3):c.*103C>T http://identifiers.org/clinvar/325093 ^@ NM_207346.2(TSEN54):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/340970 ^@ NM_022081.5(HPS4):c.*1256C>T http://identifiers.org/clinvar/325121 ^@ NM_001005731.2(ITGB4):c.210G>A (p.Ala70=) http://identifiers.org/clinvar/325124 ^@ NM_001005731.2(ITGB4):c.702C>T (p.Gly234=) http://identifiers.org/clinvar/340973 ^@ NM_022081.5(HPS4):c.*1245_*1246delCG http://identifiers.org/clinvar/327055 ^@ NM_001080467.2(MYO5B):c.2004-11_2004-10delTC http://identifiers.org/clinvar/340975 ^@ NM_022081.5(HPS4):c.*1241_*1246delCGCGCG http://identifiers.org/clinvar/327057 ^@ NM_001080467.2(MYO5B):c.2004-13delT http://identifiers.org/clinvar/327058 ^@ NM_001080467.2(MYO5B):c.2004-14T>C http://identifiers.org/clinvar/327063 ^@ NM_001080467.2(MYO5B):c.1545+11T>C http://identifiers.org/clinvar/325128 ^@ NM_001005731.2(ITGB4):c.1032A>G (p.Ser344=) http://identifiers.org/clinvar/325130 ^@ NM_001005731.2(ITGB4):c.1093C>T (p.Arg365Trp) http://identifiers.org/clinvar/325132 ^@ NM_001005731.2(ITGB4):c.1136G>A (p.Arg379Gln) http://identifiers.org/clinvar/340976 ^@ NM_022081.5(HPS4):c.*1237_*1246delCGCGCGCGCG http://identifiers.org/clinvar/340983 ^@ NM_022081.5(HPS4):c.*1227_*1236delTGCGCGCGCG http://identifiers.org/clinvar/325141 ^@ NM_001005731.2(ITGB4):c.1434G>T (p.Gln478His) http://identifiers.org/clinvar/340988 ^@ NM_022081.5(HPS4):c.*1223_*1228delTGTGTG http://identifiers.org/clinvar/327071 ^@ NM_001080467.2(MYO5B):c.1057-15C>T http://identifiers.org/clinvar/325143 ^@ NM_001005731.2(ITGB4):c.1539C>T (p.Ser513=) http://identifiers.org/clinvar/340989 ^@ NM_152841.2(HPS4):c.*1207_*1227del21insC http://identifiers.org/clinvar/327095 ^@ NM_001080467.2(MYO5B):c.-98C>T http://identifiers.org/clinvar/325150 ^@ NM_001005731.2(ITGB4):c.1805A>T (p.His602Leu) http://identifiers.org/clinvar/325155 ^@ NM_001005731.2(ITGB4):c.1968G>T (p.Lys656Asn) http://identifiers.org/clinvar/325159 ^@ NM_001005731.2(ITGB4):c.2108A>G (p.Lys703Arg) http://identifiers.org/clinvar/327099 ^@ NM_001080467.2(MYO5B):c.-252_-248dupGCGGC http://identifiers.org/clinvar/327103 ^@ NM_005359.5(SMAD4):c.-476C>A http://identifiers.org/clinvar/340993 ^@ NM_022081.5(HPS4):c.*1120C>T http://identifiers.org/clinvar/340999 ^@ NM_022081.5(HPS4):c.*197G>T http://identifiers.org/clinvar/327108 ^@ NM_005359.5(SMAD4):c.-3C>A http://identifiers.org/clinvar/341003 ^@ NM_022081.5(HPS4):c.1692C>T (p.Asp564=) http://identifiers.org/clinvar/325161 ^@ NM_001005731.2(ITGB4):c.2207G>T (p.Cys736Phe) http://identifiers.org/clinvar/325167 ^@ NM_001005731.2(ITGB4):c.2730C>T (p.Ala910=) http://identifiers.org/clinvar/341019 ^@ NM_022081.5(HPS4):c.617C>T (p.Pro206Leu) http://identifiers.org/clinvar/325169 ^@ NM_001005731.2(ITGB4):c.2784C>T (p.Asp928=) http://identifiers.org/clinvar/325170 ^@ NM_001005731.2(ITGB4):c.2833C>T (p.Arg945Trp) http://identifiers.org/clinvar/341025 ^@ NM_022081.5(HPS4):c.-42A>G http://identifiers.org/clinvar/325172 ^@ NM_001005731.2(ITGB4):c.2929C>T (p.Arg977Cys) http://identifiers.org/clinvar/341032 ^@ NM_022081.5(HPS4):c.-523G>T http://identifiers.org/clinvar/325174 ^@ NM_001005731.2(ITGB4):c.3057C>T (p.Gly1019=) http://identifiers.org/clinvar/325175 ^@ NM_001005731.2(ITGB4):c.3215G>A (p.Arg1072Gln) http://identifiers.org/clinvar/341033 ^@ NM_022081.5(HPS4):c.-530A>G http://identifiers.org/clinvar/341034 ^@ NM_022081.5(HPS4):c.-554C>T http://identifiers.org/clinvar/327109 ^@ NM_005359.5(SMAD4):c.87T>G (p.Gly29=) http://identifiers.org/clinvar/327114 ^@ NM_005359.5(SMAD4):c.*202A>G http://identifiers.org/clinvar/325177 ^@ NM_001005731.2(ITGB4):c.3232C>G (p.Arg1078Gly) http://identifiers.org/clinvar/325188 ^@ NM_001005731.2(ITGB4):c.4008C>T (p.Asp1336=) http://identifiers.org/clinvar/327118 ^@ NM_005359.5(SMAD4):c.*412A>G http://identifiers.org/clinvar/327121 ^@ NM_005359.5(SMAD4):c.*850G>A http://identifiers.org/clinvar/341037 ^@ NM_022081.5(HPS4):c.-634C>T http://identifiers.org/clinvar/341040 ^@ NM_022081.5(HPS4):c.-662G>T http://identifiers.org/clinvar/327130 ^@ NM_005359.5(SMAD4):c.*1564_*1567delAATA http://identifiers.org/clinvar/341045 ^@ NM_001887.3(CRYBB1):c.427A>G (p.Lys143Glu) http://identifiers.org/clinvar/325190 ^@ NM_001005731.2(ITGB4):c.4109-7C>G http://identifiers.org/clinvar/341047 ^@ NM_001887.3(CRYBB1):c.384G>A (p.Ser128=) http://identifiers.org/clinvar/327136 ^@ NM_005359.5(SMAD4):c.*2122A>G http://identifiers.org/clinvar/341052 ^@ NM_001887.3(CRYBB1):c.-7G>A http://identifiers.org/clinvar/325207 ^@ NM_001005731.2(ITGB4):c.4843+14C>T http://identifiers.org/clinvar/325208 ^@ NM_001005731.2(ITGB4):c.4844-15A>G http://identifiers.org/clinvar/327139 ^@ NM_005359.5(SMAD4):c.*2361A>G http://identifiers.org/clinvar/327140 ^@ NM_005359.5(SMAD4):c.*2461C>T http://identifiers.org/clinvar/325210 ^@ NM_001005731.2(ITGB4):c.4862G>A (p.Arg1621Gln) http://identifiers.org/clinvar/327142 ^@ NM_005359.5(SMAD4):c.*2630A>G http://identifiers.org/clinvar/325214 ^@ NM_001005731.2(ITGB4):c.5009-15A>G http://identifiers.org/clinvar/325223 ^@ NM_000154.1(GALK1):c.*32C>T http://identifiers.org/clinvar/327143 ^@ NM_005359.5(SMAD4):c.*2674A>G http://identifiers.org/clinvar/327144 ^@ NM_005359.5(SMAD4):c.*2682T>C http://identifiers.org/clinvar/325227 ^@ NM_000154.1(GALK1):c.995C>T (p.Ala332Val) http://identifiers.org/clinvar/325232 ^@ NM_000154.1(GALK1):c.746C>T (p.Ala249Val) http://identifiers.org/clinvar/327145 ^@ NM_005359.5(SMAD4):c.*2693A>G http://identifiers.org/clinvar/327148 ^@ NM_005359.5(SMAD4):c.*2796G>T http://identifiers.org/clinvar/327151 ^@ NM_005359.5(SMAD4):c.*2968delT http://identifiers.org/clinvar/325233 ^@ NM_000154.1(GALK1):c.703G>A (p.Glu235Lys) http://identifiers.org/clinvar/327153 ^@ NM_005359.5(SMAD4):c.*3109T>C http://identifiers.org/clinvar/327162 ^@ NM_005359.5(SMAD4):c.*4085C>A http://identifiers.org/clinvar/341058 ^@ NM_000268.3(NF2):c.-402A>G http://identifiers.org/clinvar/327166 ^@ NM_005359.5(SMAD4):c.*4748C>T http://identifiers.org/clinvar/325241 ^@ NM_199242.2(UNC13D):c.3260G>A (p.Arg1087Gln) http://identifiers.org/clinvar/327167 ^@ NM_005359.5(SMAD4):c.*4862A>G http://identifiers.org/clinvar/341060 ^@ NM_000268.3(NF2):c.-320C>T http://identifiers.org/clinvar/325242 ^@ NM_199242.2(UNC13D):c.3223C>T (p.Arg1075Trp) http://identifiers.org/clinvar/341061 ^@ NM_000268.3(NF2):c.-284C>A http://identifiers.org/clinvar/325247 ^@ NM_199242.2(UNC13D):c.2695C>T (p.Arg899Ter) http://identifiers.org/clinvar/341069 ^@ NM_000268.3(NF2):c.676A>C (p.Asn226His) http://identifiers.org/clinvar/325250 ^@ NM_199242.2(UNC13D):c.2506C>T (p.Gln836Ter) http://identifiers.org/clinvar/325509 ^@ NM_004870.3(MPDU1):c.-139G>A http://identifiers.org/clinvar/325510 ^@ NM_004870.3(MPDU1):c.-108G>A http://identifiers.org/clinvar/325512 ^@ NM_004870.3(MPDU1):c.-36C>T http://identifiers.org/clinvar/325270 ^@ NM_199242.2(UNC13D):c.858+12A>C http://identifiers.org/clinvar/325272 ^@ NM_199242.2(UNC13D):c.444G>A (p.Gly148=) http://identifiers.org/clinvar/325276 ^@ NM_199242.2(UNC13D):c.147C>T (p.Pro49=) http://identifiers.org/clinvar/325278 ^@ NM_199242.2(UNC13D):c.-115C>T http://identifiers.org/clinvar/325282 ^@ NM_199242.2(UNC13D):c.-180C>T http://identifiers.org/clinvar/325287 ^@ NM_199242.2(UNC13D):c.-328G>A http://identifiers.org/clinvar/327173 ^@ NM_005359.5(SMAD4):c.*5083G>A http://identifiers.org/clinvar/341072 ^@ NM_000268.3(NF2):c.1270C>G (p.Arg424Gly) http://identifiers.org/clinvar/327174 ^@ NM_005359.5(SMAD4):c.*5096C>A http://identifiers.org/clinvar/325520 ^@ NM_004870.3(MPDU1):c.673G>A (p.Gly225Ser) http://identifiers.org/clinvar/341078 ^@ NM_000268.3(NF2):c.*109G>T http://identifiers.org/clinvar/325521 ^@ NM_004870.3(MPDU1):c.735G>A (p.Lys245=) http://identifiers.org/clinvar/341091 ^@ NM_000268.3(NF2):c.*573C>T http://identifiers.org/clinvar/327175 ^@ NM_005359.5(SMAD4):c.*5131A>G http://identifiers.org/clinvar/325522 ^@ NM_004870.3(MPDU1):c.*105G>A http://identifiers.org/clinvar/341092 ^@ NM_000268.3(NF2):c.*587G>T http://identifiers.org/clinvar/327180 ^@ NM_005359.5(SMAD4):c.*5530T>C http://identifiers.org/clinvar/341097 ^@ NM_000268.3(NF2):c.*987C>A http://identifiers.org/clinvar/327187 ^@ NM_005359.5(SMAD4):c.*5535A>G http://identifiers.org/clinvar/325523 ^@ NM_004870.3(MPDU1):c.*255A>G http://identifiers.org/clinvar/325525 ^@ NM_004870.3(MPDU1):c.*462C>T http://identifiers.org/clinvar/325526 ^@ NM_004870.3(MPDU1):c.*523dupA http://identifiers.org/clinvar/341099 ^@ NM_000268.3(NF2):c.*1087C>T http://identifiers.org/clinvar/325296 ^@ NM_004035.6(ACOX1):c.*5092A>G http://identifiers.org/clinvar/325299 ^@ NM_004035.6(ACOX1):c.*4876C>T http://identifiers.org/clinvar/327186 ^@ NM_005359.5(SMAD4):c.*5543_*5546dupGCGC http://identifiers.org/clinvar/327189 ^@ NM_005359.5(SMAD4):c.*5545G>A http://identifiers.org/clinvar/341104 ^@ NM_000268.3(NF2):c.*1287dupT http://identifiers.org/clinvar/327204 ^@ NM_005359.5(SMAD4):c.*5691_*5693delTAT http://identifiers.org/clinvar/325300 ^@ NM_004035.6(ACOX1):c.*4831_*4832delAT http://identifiers.org/clinvar/327209 ^@ NM_005359.5(SMAD4):c.*5874C>T http://identifiers.org/clinvar/325303 ^@ NM_004035.6(ACOX1):c.*4551C>T http://identifiers.org/clinvar/327211 ^@ NM_005359.5(SMAD4):c.*5994A>C http://identifiers.org/clinvar/327213 ^@ NM_005359.5(SMAD4):c.*6057G>T http://identifiers.org/clinvar/325306 ^@ NM_004035.6(ACOX1):c.*4472dupT http://identifiers.org/clinvar/325309 ^@ NM_004035.6(ACOX1):c.*4346G>C http://identifiers.org/clinvar/341107 ^@ NM_000268.3(NF2):c.*1294T>G http://identifiers.org/clinvar/341111 ^@ NM_000268.3(NF2):c.*1438A>G http://identifiers.org/clinvar/325314 ^@ NM_004035.6(ACOX1):c.*4259C>T http://identifiers.org/clinvar/341114 ^@ NM_000268.3(NF2):c.*1559C>A http://identifiers.org/clinvar/327214 ^@ NM_005359.5(SMAD4):c.*6162_*6165delGATT http://identifiers.org/clinvar/341117 ^@ NM_000268.3(NF2):c.*1652G>T http://identifiers.org/clinvar/325322 ^@ NM_004035.6(ACOX1):c.*3533delA http://identifiers.org/clinvar/325328 ^@ NM_004035.6(ACOX1):c.*2875C>T http://identifiers.org/clinvar/327223 ^@ NM_001083962.1(TCF4):c.*5418T>C http://identifiers.org/clinvar/327224 ^@ NM_001083962.1(TCF4):c.*5411G>A http://identifiers.org/clinvar/341128 ^@ NM_000268.3(NF2):c.*2010G>T http://identifiers.org/clinvar/341132 ^@ NM_000268.3(NF2):c.*2031_*2032dupTT http://identifiers.org/clinvar/327225 ^@ NM_001083962.1(TCF4):c.*5392_*5393delGA http://identifiers.org/clinvar/327228 ^@ NM_001083962.1(TCF4):c.*5299A>G http://identifiers.org/clinvar/325332 ^@ NM_004035.6(ACOX1):c.*2644G>A http://identifiers.org/clinvar/325339 ^@ NM_004035.6(ACOX1):c.*1938C>T http://identifiers.org/clinvar/327235 ^@ NM_001083962.1(TCF4):c.*4354_*4357delGATA http://identifiers.org/clinvar/325345 ^@ NM_004035.6(ACOX1):c.*1431A>G http://identifiers.org/clinvar/341134 ^@ NM_000268.3(NF2):c.*2068G>T http://identifiers.org/clinvar/325346 ^@ NM_004035.6(ACOX1):c.*1380T>C http://identifiers.org/clinvar/341135 ^@ NM_000268.3(NF2):c.*2113C>T http://identifiers.org/clinvar/325348 ^@ NM_004035.6(ACOX1):c.*1126A>G http://identifiers.org/clinvar/325350 ^@ NM_004035.6(ACOX1):c.*1034T>G http://identifiers.org/clinvar/327236 ^@ NM_001083962.1(TCF4):c.*4353delA http://identifiers.org/clinvar/327243 ^@ NM_001083962.1(TCF4):c.*4320_*4321insGAA http://identifiers.org/clinvar/327248 ^@ NM_001083962.1(TCF4):c.*4061dupA http://identifiers.org/clinvar/325352 ^@ NM_004035.6(ACOX1):c.*1021C>A http://identifiers.org/clinvar/341137 ^@ NM_000268.3(NF2):c.*2206G>A http://identifiers.org/clinvar/325357 ^@ NM_004035.6(ACOX1):c.*765G>A http://identifiers.org/clinvar/325364 ^@ NM_004035.6(ACOX1):c.*654A>G http://identifiers.org/clinvar/325365 ^@ NM_004035.6(ACOX1):c.*633G>C http://identifiers.org/clinvar/341138 ^@ NM_000268.3(NF2):c.*2224A>G http://identifiers.org/clinvar/327254 ^@ NM_001083962.1(TCF4):c.*3756A>G http://identifiers.org/clinvar/325368 ^@ NM_004035.6(ACOX1):c.*478T>C http://identifiers.org/clinvar/327255 ^@ NM_001083962.1(TCF4):c.*3529T>A http://identifiers.org/clinvar/325373 ^@ NM_004035.6(ACOX1):c.1821T>C (p.Val607=) http://identifiers.org/clinvar/341140 ^@ NM_000268.3(NF2):c.*2266C>T http://identifiers.org/clinvar/325376 ^@ NM_004035.6(ACOX1):c.1541T>C (p.Val514Ala) http://identifiers.org/clinvar/325378 ^@ NM_004035.6(ACOX1):c.1368C>T (p.Asn456=) http://identifiers.org/clinvar/327256 ^@ NM_001083962.1(TCF4):c.*3491C>T http://identifiers.org/clinvar/341148 ^@ NM_000268.3(NF2):c.*2455T>C http://identifiers.org/clinvar/325382 ^@ NM_004035.6(ACOX1):c.912C>T (p.Ser304=) http://identifiers.org/clinvar/341149 ^@ NM_000268.3(NF2):c.*2468C>G http://identifiers.org/clinvar/325398 ^@ NM_024599.5(RHBDF2):c.*711A>G http://identifiers.org/clinvar/325400 ^@ NM_024599.5(RHBDF2):c.*698C>G http://identifiers.org/clinvar/325403 ^@ NM_024599.5(RHBDF2):c.*580C>T http://identifiers.org/clinvar/325404 ^@ NM_024599.5(RHBDF2):c.*551G>T http://identifiers.org/clinvar/325406 ^@ NM_024599.5(RHBDF2):c.*551G>A http://identifiers.org/clinvar/341158 ^@ NM_000268.3(NF2):c.*2922G>A http://identifiers.org/clinvar/341160 ^@ NM_000268.3(NF2):c.*3018C>T http://identifiers.org/clinvar/327258 ^@ NM_001083962.1(TCF4):c.*3404G>C http://identifiers.org/clinvar/325411 ^@ NM_024599.5(RHBDF2):c.*331dupG http://identifiers.org/clinvar/341166 ^@ NM_000268.3(NF2):c.*3266C>A http://identifiers.org/clinvar/341171 ^@ NM_000268.3(NF2):c.*3480T>G http://identifiers.org/clinvar/327259 ^@ NM_001083962.1(TCF4):c.*3397dupT http://identifiers.org/clinvar/341175 ^@ NM_000268.3(NF2):c.*3646C>T http://identifiers.org/clinvar/325412 ^@ NM_024599.5(RHBDF2):c.*310G>A http://identifiers.org/clinvar/327266 ^@ NM_001083962.1(TCF4):c.*2857C>T http://identifiers.org/clinvar/327272 ^@ NM_001083962.1(TCF4):c.*2553C>T http://identifiers.org/clinvar/325413 ^@ NM_024599.5(RHBDF2):c.*287C>T http://identifiers.org/clinvar/325416 ^@ NM_024599.5(RHBDF2):c.*181C>T http://identifiers.org/clinvar/327273 ^@ NM_001083962.1(TCF4):c.*2506G>A http://identifiers.org/clinvar/341178 ^@ NM_000268.3(NF2):c.*3783T>C http://identifiers.org/clinvar/325420 ^@ NM_024599.5(RHBDF2):c.2538C>T (p.Cys846=) http://identifiers.org/clinvar/325422 ^@ NM_024599.5(RHBDF2):c.2352C>T (p.Ala784=) http://identifiers.org/clinvar/341180 ^@ NM_000355.3(TCN2):c.-215C>T http://identifiers.org/clinvar/341187 ^@ NM_000355.3(TCN2):c.64+11C>T http://identifiers.org/clinvar/327275 ^@ NM_001083962.1(TCF4):c.*2375_*2377delTCC http://identifiers.org/clinvar/325430 ^@ NM_024599.5(RHBDF2):c.1771A>G (p.Met591Val) http://identifiers.org/clinvar/327279 ^@ NM_001083962.1(TCF4):c.*1912A>G http://identifiers.org/clinvar/327283 ^@ NM_001083962.1(TCF4):c.*1799G>C http://identifiers.org/clinvar/341194 ^@ NM_000355.3(TCN2):c.428-4T>C http://identifiers.org/clinvar/341196 ^@ NM_000355.3(TCN2):c.501C>T (p.His167=) http://identifiers.org/clinvar/341200 ^@ NM_000355.3(TCN2):c.643C>T (p.Arg215Trp) http://identifiers.org/clinvar/327291 ^@ NM_001083962.1(TCF4):c.*832G>T http://identifiers.org/clinvar/341210 ^@ NM_000355.3(TCN2):c.1023G>A (p.Pro341=) http://identifiers.org/clinvar/325435 ^@ NM_024599.5(RHBDF2):c.1662-8G>A http://identifiers.org/clinvar/325439 ^@ NM_024599.5(RHBDF2):c.1467C>A (p.Arg489=) http://identifiers.org/clinvar/341215 ^@ NM_000355.3(TCN2):c.1196G>A (p.Arg399Gln) http://identifiers.org/clinvar/341216 ^@ NM_000355.3(TCN2):c.*29C>A http://identifiers.org/clinvar/341218 ^@ NM_000355.3(TCN2):c.*93G>C http://identifiers.org/clinvar/327295 ^@ NM_001083962.1(TCF4):c.*754G>T http://identifiers.org/clinvar/327304 ^@ NM_001083962.1(TCF4):c.816C>T (p.Asp272=) http://identifiers.org/clinvar/341219 ^@ NM_000355.3(TCN2):c.*127C>T http://identifiers.org/clinvar/341224 ^@ NM_000355.3(TCN2):c.*381T>G http://identifiers.org/clinvar/327310 ^@ NM_001083962.1(TCF4):c.-248C>T http://identifiers.org/clinvar/325441 ^@ NM_024599.5(RHBDF2):c.1389+8C>T http://identifiers.org/clinvar/341226 ^@ NM_000355.3(TCN2):c.*444C>T http://identifiers.org/clinvar/341227 ^@ NM_000343.3(SLC5A1):c.-170C>T http://identifiers.org/clinvar/341230 ^@ NM_000343.3(SLC5A1):c.-51G>A http://identifiers.org/clinvar/325451 ^@ NM_024599.5(RHBDF2):c.767C>T (p.Ser256Leu) http://identifiers.org/clinvar/325455 ^@ NM_024599.5(RHBDF2):c.623C>T (p.Pro208Leu) http://identifiers.org/clinvar/327320 ^@ NM_000140.3(FECH):c.*5247T>C http://identifiers.org/clinvar/327321 ^@ NM_000140.3(FECH):c.*5170T>C http://identifiers.org/clinvar/325464 ^@ NM_024599.5(RHBDF2):c.326G>A (p.Arg109His) http://identifiers.org/clinvar/325465 ^@ NM_024599.5(RHBDF2):c.300G>A (p.Glu100=) http://identifiers.org/clinvar/327324 ^@ NM_000140.3(FECH):c.*5139C>T http://identifiers.org/clinvar/325479 ^@ NM_001077620.2(PRCD):c.*421_*422delCT http://identifiers.org/clinvar/325482 ^@ NM_001077620.2(PRCD):c.*590C>G http://identifiers.org/clinvar/327326 ^@ NM_000140.3(FECH):c.*4971A>G http://identifiers.org/clinvar/327335 ^@ NM_000140.3(FECH):c.*4563G>T http://identifiers.org/clinvar/327340 ^@ NM_000140.3(FECH):c.*4445G>A http://identifiers.org/clinvar/325487 ^@ NM_001077620.2(PRCD):c.*764C>T http://identifiers.org/clinvar/341234 ^@ NM_000343.3(SLC5A1):c.6C>T (p.Asp2=) http://identifiers.org/clinvar/341235 ^@ NM_000343.3(SLC5A1):c.101T>C (p.Ile34Thr) http://identifiers.org/clinvar/327346 ^@ NM_000140.3(FECH):c.*4237A>G http://identifiers.org/clinvar/327348 ^@ NM_000140.3(FECH):c.*4077C>T http://identifiers.org/clinvar/341238 ^@ NM_000343.3(SLC5A1):c.312+3G>A http://identifiers.org/clinvar/341239 ^@ NM_000343.3(SLC5A1):c.373-13G>A http://identifiers.org/clinvar/325488 ^@ NM_001077620.2(PRCD):c.*881G>A http://identifiers.org/clinvar/327350 ^@ NM_000140.3(FECH):c.*3976C>T http://identifiers.org/clinvar/327358 ^@ NM_000140.3(FECH):c.*3656C>T http://identifiers.org/clinvar/327365 ^@ NM_000140.3(FECH):c.*2840C>T http://identifiers.org/clinvar/325494 ^@ NM_001077620.2(PRCD):c.*1238G>A http://identifiers.org/clinvar/341244 ^@ NM_000343.3(SLC5A1):c.862T>G (p.Leu288Val) http://identifiers.org/clinvar/341246 ^@ NM_000343.3(SLC5A1):c.1028T>C (p.Ile343Thr) http://identifiers.org/clinvar/327367 ^@ NM_000140.3(FECH):c.*2788G>A http://identifiers.org/clinvar/325500 ^@ NM_001077620.2(PRCD):c.*1405C>T http://identifiers.org/clinvar/341254 ^@ NM_000343.3(SLC5A1):c.1390G>A (p.Gly464Arg) http://identifiers.org/clinvar/327374 ^@ NM_000140.3(FECH):c.*2513G>A http://identifiers.org/clinvar/327376 ^@ NM_000140.3(FECH):c.*2459_*2461dupTTT http://identifiers.org/clinvar/325502 ^@ NM_001077620.2(PRCD):c.*1411G>A http://identifiers.org/clinvar/327375 ^@ NM_000140.3(FECH):c.*2461dupT http://identifiers.org/clinvar/327384 ^@ NM_000140.3(FECH):c.*2371T>G http://identifiers.org/clinvar/341256 ^@ NM_000343.3(SLC5A1):c.1556C>T (p.Thr519Met) http://identifiers.org/clinvar/341265 ^@ NM_000343.3(SLC5A1):c.1899G>A (p.Thr633=) http://identifiers.org/clinvar/325503 ^@ NM_001077620.2(PRCD):c.*1439T>C http://identifiers.org/clinvar/327387 ^@ NM_000140.3(FECH):c.*1966G>T http://identifiers.org/clinvar/341272 ^@ NM_000343.3(SLC5A1):c.*510G>A http://identifiers.org/clinvar/341278 ^@ NM_000343.3(SLC5A1):c.*771C>T http://identifiers.org/clinvar/341280 ^@ NM_000343.3(SLC5A1):c.*902T>G http://identifiers.org/clinvar/325504 ^@ NM_001077620.2(PRCD):c.*1480C>G http://identifiers.org/clinvar/327391 ^@ NM_000140.3(FECH):c.*1567A>G http://identifiers.org/clinvar/327395 ^@ NM_000140.3(FECH):c.*1348T>G http://identifiers.org/clinvar/325505 ^@ NM_001077620.2(PRCD):c.*1509G>A http://identifiers.org/clinvar/325507 ^@ NM_001077620.2(PRCD):c.*1714C>T http://identifiers.org/clinvar/327396 ^@ NM_000140.3(FECH):c.*1287_*1288insTA http://identifiers.org/clinvar/341281 ^@ NM_000343.3(SLC5A1):c.*1053G>A http://identifiers.org/clinvar/325619 ^@ NM_000546.5(TP53):c.*1160T>G http://identifiers.org/clinvar/327398 ^@ NM_000140.3(FECH):c.*1287T>A http://identifiers.org/clinvar/327402 ^@ NM_000140.3(FECH):c.*1173A>T http://identifiers.org/clinvar/325620 ^@ NM_000546.5(TP53):c.*1070C>T http://identifiers.org/clinvar/327405 ^@ NM_000140.3(FECH):c.*1054T>C http://identifiers.org/clinvar/325624 ^@ NM_000546.5(TP53):c.*806C>A http://identifiers.org/clinvar/327411 ^@ NM_000140.3(FECH):c.*696C>T http://identifiers.org/clinvar/325635 ^@ NM_000546.5(TP53):c.*565G>T http://identifiers.org/clinvar/325638 ^@ NM_000546.5(TP53):c.*382C>T http://identifiers.org/clinvar/327419 ^@ NM_000140.3(FECH):c.*248C>T http://identifiers.org/clinvar/341283 ^@ NM_000343.3(SLC5A1):c.*1251G>T http://identifiers.org/clinvar/327424 ^@ NM_000140.3(FECH):c.935G>T (p.Gly312Val) http://identifiers.org/clinvar/341288 ^@ NM_000343.3(SLC5A1):c.*1508C>A http://identifiers.org/clinvar/325644 ^@ NM_000546.5(TP53):c.-73C>A http://identifiers.org/clinvar/327440 ^@ NM_005603.4(ATP8B1):c.*1937T>A http://identifiers.org/clinvar/325653 ^@ NM_018081.2(WRAP53):c.431+15C>T http://identifiers.org/clinvar/327447 ^@ NM_005603.4(ATP8B1):c.*1083T>C http://identifiers.org/clinvar/327453 ^@ NM_005603.4(ATP8B1):c.*735T>A http://identifiers.org/clinvar/327454 ^@ NM_005603.4(ATP8B1):c.*694T>C http://identifiers.org/clinvar/325655 ^@ NM_018081.2(WRAP53):c.822+6G>A http://identifiers.org/clinvar/341291 ^@ NM_000343.3(SLC5A1):c.*1755T>G http://identifiers.org/clinvar/325659 ^@ NM_018081.2(WRAP53):c.936C>T (p.Cys312=) http://identifiers.org/clinvar/325660 ^@ NM_018081.2(WRAP53):c.976G>A (p.Gly326Ser) http://identifiers.org/clinvar/325661 ^@ NM_018081.2(WRAP53):c.1035C>T (p.Tyr345=) http://identifiers.org/clinvar/325662 ^@ NM_018081.2(WRAP53):c.1269-13C>T http://identifiers.org/clinvar/325663 ^@ NM_018081.2(WRAP53):c.1403+6C>T http://identifiers.org/clinvar/325528 ^@ NM_006640.4(SEPT9):c.-768T>G http://identifiers.org/clinvar/327457 ^@ NM_005603.4(ATP8B1):c.*587G>A http://identifiers.org/clinvar/341297 ^@ NM_012179.3(FBXO7):c.-268C>G http://identifiers.org/clinvar/325529 ^@ NM_006640.4(SEPT9):c.-723G>A http://identifiers.org/clinvar/327458 ^@ NM_005603.4(ATP8B1):c.*531C>T http://identifiers.org/clinvar/341301 ^@ NM_012179.3(FBXO7):c.-197C>T http://identifiers.org/clinvar/325530 ^@ NM_006640.4(SEPT9):c.-400G>T http://identifiers.org/clinvar/325532 ^@ NM_006640.4(SEPT9):c.-337G>A http://identifiers.org/clinvar/327462 ^@ NM_005603.4(ATP8B1):c.*283G>A http://identifiers.org/clinvar/341302 ^@ NM_012179.3(FBXO7):c.-184C>T http://identifiers.org/clinvar/325535 ^@ NM_006640.4(SEPT9):c.-98_-93delAGGAGG http://identifiers.org/clinvar/341306 ^@ NM_012179.3(FBXO7):c.49C>G (p.Pro17Ala) http://identifiers.org/clinvar/341307 ^@ NM_012179.3(FBXO7):c.122+9G>A http://identifiers.org/clinvar/327471 ^@ NM_005603.4(ATP8B1):c.2988C>T (p.Pro996=) http://identifiers.org/clinvar/325536 ^@ NM_006640.4(SEPT9):c.-81A>G http://identifiers.org/clinvar/341308 ^@ NM_012179.3(FBXO7):c.274G>C (p.Asp92His) http://identifiers.org/clinvar/341314 ^@ NM_012179.3(FBXO7):c.949C>T (p.Leu317=) http://identifiers.org/clinvar/327473 ^@ NM_005603.4(ATP8B1):c.2939A>G (p.Tyr980Cys) http://identifiers.org/clinvar/327474 ^@ NM_005603.4(ATP8B1):c.2931+14G>A http://identifiers.org/clinvar/325539 ^@ NM_006640.4(SEPT9):c.147C>T (p.Gly49=) http://identifiers.org/clinvar/341331 ^@ NM_000362.4(TIMP3):c.-684T>C http://identifiers.org/clinvar/327475 ^@ NM_005603.4(ATP8B1):c.2637G>A (p.Leu879=) http://identifiers.org/clinvar/325540 ^@ NM_006640.4(SEPT9):c.148G>A (p.Val50Met) http://identifiers.org/clinvar/327481 ^@ NM_005603.4(ATP8B1):c.2098-21_2098-15dupTTTTTTT http://identifiers.org/clinvar/327482 ^@ NM_005603.4(ATP8B1):c.2052C>T (p.Asp684=) http://identifiers.org/clinvar/341333 ^@ NM_000362.4(TIMP3):c.-471C>A http://identifiers.org/clinvar/327484 ^@ NM_005603.4(ATP8B1):c.1739G>A (p.Ser580Asn) http://identifiers.org/clinvar/325542 ^@ NM_006640.4(SEPT9):c.268A>G (p.Thr90Ala) http://identifiers.org/clinvar/327485 ^@ NM_005603.4(ATP8B1):c.1711G>A (p.Ala571Thr) http://identifiers.org/clinvar/341339 ^@ NM_000362.4(TIMP3):c.-270G>T http://identifiers.org/clinvar/325545 ^@ NM_006640.4(SEPT9):c.465C>T (p.Pro155=) http://identifiers.org/clinvar/327486 ^@ NM_005603.4(ATP8B1):c.1681G>A (p.Ala561Thr) http://identifiers.org/clinvar/327499 ^@ NM_005603.4(ATP8B1):c.-62C>T http://identifiers.org/clinvar/327505 ^@ NM_013435.2(RAX):c.*1737C>A http://identifiers.org/clinvar/341341 ^@ NM_000362.4(TIMP3):c.-105G>C http://identifiers.org/clinvar/325549 ^@ NM_006640.4(SEPT9):c.765G>A (p.Pro255=) http://identifiers.org/clinvar/341345 ^@ NM_000362.4(TIMP3):c.439-12A>G http://identifiers.org/clinvar/341353 ^@ NM_000362.4(TIMP3):c.*529G>A http://identifiers.org/clinvar/327510 ^@ NM_013435.2(RAX):c.*1389C>G http://identifiers.org/clinvar/325551 ^@ NM_006640.4(SEPT9):c.860-4C>T http://identifiers.org/clinvar/325552 ^@ NM_006640.4(SEPT9):c.882C>T (p.Ser294=) http://identifiers.org/clinvar/341356 ^@ NM_000362.4(TIMP3):c.*615C>T http://identifiers.org/clinvar/341361 ^@ NM_000362.4(TIMP3):c.*1242G>A http://identifiers.org/clinvar/325553 ^@ NM_006640.4(SEPT9):c.987C>T (p.His329=) http://identifiers.org/clinvar/327511 ^@ NM_013435.2(RAX):c.*1373_*1374delCG http://identifiers.org/clinvar/341362 ^@ NM_000362.4(TIMP3):c.*1297T>C http://identifiers.org/clinvar/325555 ^@ NM_006640.4(SEPT9):c.988+10C>T http://identifiers.org/clinvar/341363 ^@ NM_000362.4(TIMP3):c.*1495G>A http://identifiers.org/clinvar/327512 ^@ NM_013435.2(RAX):c.*1373delC http://identifiers.org/clinvar/325560 ^@ NM_006640.4(SEPT9):c.1266C>G (p.Val422=) http://identifiers.org/clinvar/341366 ^@ NM_000362.4(TIMP3):c.*1552_*1553delTT http://identifiers.org/clinvar/325567 ^@ NM_006640.4(SEPT9):c.1530C>G (p.Thr510=) http://identifiers.org/clinvar/327514 ^@ NM_013435.2(RAX):c.*1371_*1372delGG http://identifiers.org/clinvar/327516 ^@ NM_013435.2(RAX):c.*1362G>C http://identifiers.org/clinvar/327529 ^@ NM_013435.2(RAX):c.*120C>G http://identifiers.org/clinvar/327530 ^@ NM_013435.2(RAX):c.922G>A (p.Gly308Ser) http://identifiers.org/clinvar/327535 ^@ NM_013435.2(RAX):c.166G>A (p.Gly56Ser) http://identifiers.org/clinvar/325568 ^@ NM_006640.4(SEPT9):c.1672A>G (p.Met558Val) http://identifiers.org/clinvar/327537 ^@ NM_013435.2(RAX):c.-104C>T http://identifiers.org/clinvar/327538 ^@ NM_005570.3(LMAN1):c.*3107T>A http://identifiers.org/clinvar/325569 ^@ NM_006640.4(SEPT9):c.1698G>A (p.Pro566=) http://identifiers.org/clinvar/327541 ^@ NM_005570.3(LMAN1):c.*2893G>A http://identifiers.org/clinvar/341365 ^@ NM_000362.4(TIMP3):c.*1553delT http://identifiers.org/clinvar/341370 ^@ NM_000362.4(TIMP3):c.*1717A>G http://identifiers.org/clinvar/325572 ^@ NM_006640.4(SEPT9):c.*9dupC http://identifiers.org/clinvar/327542 ^@ NM_005570.3(LMAN1):c.*2650G>A http://identifiers.org/clinvar/325577 ^@ NM_006640.4(SEPT9):c.*20C>A http://identifiers.org/clinvar/325578 ^@ NM_006640.4(SEPT9):c.*40A>T http://identifiers.org/clinvar/325597 ^@ NM_006640.4(SEPT9):c.*764C>G http://identifiers.org/clinvar/327544 ^@ NM_005570.3(LMAN1):c.*2405C>A http://identifiers.org/clinvar/341371 ^@ NM_000362.4(TIMP3):c.*1783A>G http://identifiers.org/clinvar/341375 ^@ NM_000362.4(TIMP3):c.*1812delA http://identifiers.org/clinvar/325600 ^@ NM_006640.4(SEPT9):c.*867G>A http://identifiers.org/clinvar/325604 ^@ NM_006640.4(SEPT9):c.*955C>T http://identifiers.org/clinvar/341376 ^@ NM_000362.4(TIMP3):c.*1900C>T http://identifiers.org/clinvar/341378 ^@ NM_000362.4(TIMP3):c.*2012_*2013insAAA http://identifiers.org/clinvar/325606 ^@ NM_006640.4(SEPT9):c.*1035G>A http://identifiers.org/clinvar/327547 ^@ NM_005570.3(LMAN1):c.*2217G>A http://identifiers.org/clinvar/341384 ^@ NM_000362.4(TIMP3):c.*2280T>C http://identifiers.org/clinvar/325611 ^@ NM_006640.4(SEPT9):c.*1463G>T http://identifiers.org/clinvar/325668 ^@ NM_138793.3(CANT1):c.*1476G>A http://identifiers.org/clinvar/325669 ^@ NM_138793.3(CANT1):c.*1440G>A http://identifiers.org/clinvar/341390 ^@ NM_000362.4(TIMP3):c.*2544G>A http://identifiers.org/clinvar/341391 ^@ NM_000362.4(TIMP3):c.*2566C>T http://identifiers.org/clinvar/327548 ^@ NM_005570.3(LMAN1):c.*2063C>G http://identifiers.org/clinvar/327550 ^@ NM_005570.3(LMAN1):c.*1988C>T http://identifiers.org/clinvar/327551 ^@ NM_005570.3(LMAN1):c.*1970T>G http://identifiers.org/clinvar/325671 ^@ NM_138793.3(CANT1):c.*1376C>G http://identifiers.org/clinvar/341399 ^@ NM_000362.4(TIMP3):c.*2924T>C http://identifiers.org/clinvar/341406 ^@ NM_000362.4(TIMP3):c.*3282C>T http://identifiers.org/clinvar/325673 ^@ NM_138793.3(CANT1):c.*1167G>A http://identifiers.org/clinvar/325674 ^@ NM_138793.3(CANT1):c.*1093C>T http://identifiers.org/clinvar/327553 ^@ NM_005570.3(LMAN1):c.*1799A>C http://identifiers.org/clinvar/327559 ^@ NM_005570.3(LMAN1):c.*1305A>G http://identifiers.org/clinvar/325678 ^@ NM_138793.3(CANT1):c.*964A>G http://identifiers.org/clinvar/341411 ^@ NM_004737.5(LARGE1):c.*1235A>G http://identifiers.org/clinvar/341421 ^@ NM_004737.5(LARGE1):c.*770A>T http://identifiers.org/clinvar/327560 ^@ NM_005570.3(LMAN1):c.*1298A>G http://identifiers.org/clinvar/325685 ^@ NM_138793.3(CANT1):c.*671T>C http://identifiers.org/clinvar/325687 ^@ NM_138793.3(CANT1):c.*570G>A http://identifiers.org/clinvar/327563 ^@ NM_005570.3(LMAN1):c.*490C>T http://identifiers.org/clinvar/327565 ^@ NM_005570.3(LMAN1):c.*164A>G http://identifiers.org/clinvar/327566 ^@ NM_005570.3(LMAN1):c.*57G>A http://identifiers.org/clinvar/327567 ^@ NM_005570.3(LMAN1):c.*48G>A http://identifiers.org/clinvar/341422 ^@ NM_004737.5(LARGE1):c.*740A>G http://identifiers.org/clinvar/341423 ^@ NM_004737.5(LARGE1):c.*580C>T http://identifiers.org/clinvar/327570 ^@ NM_005570.3(LMAN1):c.1221-4T>C http://identifiers.org/clinvar/341426 ^@ NM_004737.5(LARGE1):c.*479A>T http://identifiers.org/clinvar/325696 ^@ NM_138793.3(CANT1):c.1056C>T (p.Asn352=) http://identifiers.org/clinvar/325697 ^@ NM_138793.3(CANT1):c.967G>A (p.Ala323Thr) http://identifiers.org/clinvar/327571 ^@ NM_005570.3(LMAN1):c.1050G>T (p.Arg350=) http://identifiers.org/clinvar/327575 ^@ NM_005570.3(LMAN1):c.540T>G (p.Asn180Lys) http://identifiers.org/clinvar/325698 ^@ NM_138793.3(CANT1):c.916C>T (p.Arg306Cys) http://identifiers.org/clinvar/341427 ^@ NM_004737.5(LARGE1):c.*455C>T http://identifiers.org/clinvar/341436 ^@ NM_004737.5(LARGE1):c.506A>G (p.His169Arg) http://identifiers.org/clinvar/325704 ^@ NM_138793.3(CANT1):c.287C>T (p.Pro96Leu) http://identifiers.org/clinvar/327577 ^@ NM_005570.3(LMAN1):c.478-15T>C http://identifiers.org/clinvar/327586 ^@ NM_133459.3(CCBE1):c.*4799G>A http://identifiers.org/clinvar/325705 ^@ NM_138793.3(CANT1):c.250G>C (p.Ala84Pro) http://identifiers.org/clinvar/325707 ^@ NM_138793.3(CANT1):c.61A>G (p.Ser21Gly) http://identifiers.org/clinvar/327587 ^@ NM_133459.3(CCBE1):c.*4796G>C http://identifiers.org/clinvar/341441 ^@ NM_004737.5(LARGE1):c.-121G>C http://identifiers.org/clinvar/325708 ^@ NM_138793.3(CANT1):c.-56C>G http://identifiers.org/clinvar/341449 ^@ NM_004737.5(LARGE1):c.-350A>G http://identifiers.org/clinvar/325709 ^@ NM_138793.3(CANT1):c.-124T>G http://identifiers.org/clinvar/341450 ^@ NM_004737.5(LARGE1):c.-355G>C http://identifiers.org/clinvar/325711 ^@ NM_138793.3(CANT1):c.-179G>A http://identifiers.org/clinvar/325712 ^@ NM_138793.3(CANT1):c.-193G>A http://identifiers.org/clinvar/325718 ^@ NM_138793.3(CANT1):c.-359G>A http://identifiers.org/clinvar/327589 ^@ NM_133459.3(CCBE1):c.*4788T>C http://identifiers.org/clinvar/325725 ^@ NM_017950.3(CCDC40):c.553-6C>A http://identifiers.org/clinvar/325732 ^@ NM_017950.3(CCDC40):c.1526G>A (p.Arg509His) http://identifiers.org/clinvar/327594 ^@ NM_133459.3(CCBE1):c.*4504G>C http://identifiers.org/clinvar/327595 ^@ NM_133459.3(CCBE1):c.*4498T>C http://identifiers.org/clinvar/325738 ^@ NM_017950.3(CCDC40):c.1974G>A (p.Lys658=) http://identifiers.org/clinvar/341451 ^@ NM_004737.5(LARGE1):c.-406C>A http://identifiers.org/clinvar/341457 ^@ NM_004737.5(LARGE1):c.-544G>T http://identifiers.org/clinvar/327598 ^@ NM_133459.3(CCBE1):c.*4375T>C http://identifiers.org/clinvar/325741 ^@ NM_017950.3(CCDC40):c.2293G>A (p.Glu765Lys) http://identifiers.org/clinvar/325743 ^@ NM_017950.3(CCDC40):c.2612C>T (p.Ser871Leu) http://identifiers.org/clinvar/341460 ^@ NM_002473.5(MYH9):c.*1204A>T http://identifiers.org/clinvar/341462 ^@ NM_002473.5(MYH9):c.*1160delT http://identifiers.org/clinvar/327599 ^@ NM_133459.3(CCBE1):c.*4246C>G http://identifiers.org/clinvar/325750 ^@ NM_017950.3(CCDC40):c.3365A>C (p.Gln1122Pro) http://identifiers.org/clinvar/327602 ^@ NM_133459.3(CCBE1):c.*3883G>T http://identifiers.org/clinvar/341463 ^@ NM_002473.5(MYH9):c.*1099A>T http://identifiers.org/clinvar/341464 ^@ NM_002473.5(MYH9):c.*1026C>G http://identifiers.org/clinvar/341466 ^@ NM_002473.5(MYH9):c.*975A>G http://identifiers.org/clinvar/327604 ^@ NM_133459.3(CCBE1):c.*3788T>A http://identifiers.org/clinvar/327606 ^@ NM_133459.3(CCBE1):c.*3780A>T http://identifiers.org/clinvar/325752 ^@ NM_017950.3(CCDC40):c.*149T>C http://identifiers.org/clinvar/341471 ^@ NM_002473.5(MYH9):c.*732C>T http://identifiers.org/clinvar/327616 ^@ NM_133459.3(CCBE1):c.*3140G>T http://identifiers.org/clinvar/327622 ^@ NM_133459.3(CCBE1):c.*2951_*2952insC http://identifiers.org/clinvar/325753 ^@ NM_017950.3(CCDC40):c.*186A>C http://identifiers.org/clinvar/325763 ^@ NM_017950.3(CCDC40):c.*632G>A http://identifiers.org/clinvar/341478 ^@ NM_002473.5(MYH9):c.*329C>T http://identifiers.org/clinvar/325764 ^@ NM_017950.3(CCDC40):c.*633C>G http://identifiers.org/clinvar/325779 ^@ NM_000152.4(GAA):c.511G>A (p.Val171Met) http://identifiers.org/clinvar/325783 ^@ NM_000152.4(GAA):c.858+10C>T http://identifiers.org/clinvar/327623 ^@ NM_133459.3(CCBE1):c.*2912G>T http://identifiers.org/clinvar/327624 ^@ NM_133459.3(CCBE1):c.*2903G>C http://identifiers.org/clinvar/325786 ^@ NM_000152.4(GAA):c.1195-15G>A http://identifiers.org/clinvar/341480 ^@ NM_002473.5(MYH9):c.*261G>C http://identifiers.org/clinvar/341488 ^@ NM_002473.5(MYH9):c.*81C>T http://identifiers.org/clinvar/341493 ^@ NM_002473.5(MYH9):c.5593-14G>A http://identifiers.org/clinvar/327628 ^@ NM_133459.3(CCBE1):c.*2825A>G http://identifiers.org/clinvar/341495 ^@ NM_002473.5(MYH9):c.5271G>T (p.Leu1757=) http://identifiers.org/clinvar/325788 ^@ NM_000152.4(GAA):c.1388G>A (p.Arg463Gln) http://identifiers.org/clinvar/341496 ^@ NM_002473.5(MYH9):c.4972C>T (p.Arg1658Cys) http://identifiers.org/clinvar/325799 ^@ NM_000152.4(GAA):c.*91G>A http://identifiers.org/clinvar/341498 ^@ NM_002473.5(MYH9):c.4830C>T (p.Ala1610=) http://identifiers.org/clinvar/327632 ^@ NM_133459.3(CCBE1):c.*2758C>T http://identifiers.org/clinvar/325802 ^@ NM_000152.4(GAA):c.*139dupG http://identifiers.org/clinvar/341506 ^@ NM_002473.5(MYH9):c.4126A>G (p.Ser1376Gly) http://identifiers.org/clinvar/341507 ^@ NM_002473.5(MYH9):c.4025G>A (p.Arg1342Gln) http://identifiers.org/clinvar/341509 ^@ NM_002473.5(MYH9):c.3884A>G (p.Lys1295Arg) http://identifiers.org/clinvar/327633 ^@ NM_133459.3(CCBE1):c.*2730A>G http://identifiers.org/clinvar/341510 ^@ NM_002473.5(MYH9):c.3838-11G>A http://identifiers.org/clinvar/341513 ^@ NM_002473.5(MYH9):c.3606G>A (p.Ala1202=) http://identifiers.org/clinvar/327635 ^@ NM_133459.3(CCBE1):c.*2639delT http://identifiers.org/clinvar/327638 ^@ NM_133459.3(CCBE1):c.*2373C>T http://identifiers.org/clinvar/325804 ^@ NM_000152.4(GAA):c.*288G>T http://identifiers.org/clinvar/341516 ^@ NM_002473.5(MYH9):c.3320G>A (p.Arg1107Gln) http://identifiers.org/clinvar/341519 ^@ NM_002473.5(MYH9):c.2598C>G (p.Asn866Lys) http://identifiers.org/clinvar/341526 ^@ NM_002473.5(MYH9):c.1539C>A (p.Asp513Glu) http://identifiers.org/clinvar/327640 ^@ NM_133459.3(CCBE1):c.*2361G>A http://identifiers.org/clinvar/327644 ^@ NM_133459.3(CCBE1):c.*2297_*2298insT http://identifiers.org/clinvar/327645 ^@ NM_133459.3(CCBE1):c.*2242T>C http://identifiers.org/clinvar/327658 ^@ NM_133459.3(CCBE1):c.*2013_*2016delAAAA http://identifiers.org/clinvar/341529 ^@ NM_002473.5(MYH9):c.1150G>A (p.Asp384Asn) http://identifiers.org/clinvar/341538 ^@ NM_002473.5(MYH9):c.-19-7C>T http://identifiers.org/clinvar/325810 ^@ NM_000199.3(SGSH):c.*1078A>G http://identifiers.org/clinvar/325812 ^@ NM_000199.3(SGSH):c.*978C>T http://identifiers.org/clinvar/325816 ^@ NM_000199.3(SGSH):c.*833A>G http://identifiers.org/clinvar/327667 ^@ NM_133459.3(CCBE1):c.*1725G>A http://identifiers.org/clinvar/327669 ^@ NM_133459.3(CCBE1):c.*1655T>A http://identifiers.org/clinvar/325818 ^@ NM_000199.3(SGSH):c.*499C>T http://identifiers.org/clinvar/325819 ^@ NM_000199.3(SGSH):c.*452G>A http://identifiers.org/clinvar/325834 ^@ NM_000199.3(SGSH):c.1076C>T (p.Ala359Val) http://identifiers.org/clinvar/341542 ^@ NM_002473.5(MYH9):c.-201G>A http://identifiers.org/clinvar/341543 ^@ NM_013416.3(NCF4):c.-114C>T http://identifiers.org/clinvar/325839 ^@ NM_000199.3(SGSH):c.689C>T (p.Pro230Leu) http://identifiers.org/clinvar/341545 ^@ NM_013416.3(NCF4):c.-37G>A http://identifiers.org/clinvar/327670 ^@ NM_133459.3(CCBE1):c.*1628T>A http://identifiers.org/clinvar/327671 ^@ NM_133459.3(CCBE1):c.*1463delT http://identifiers.org/clinvar/327674 ^@ NM_133459.3(CCBE1):c.*1347C>T http://identifiers.org/clinvar/327675 ^@ NM_133459.3(CCBE1):c.*1346G>A http://identifiers.org/clinvar/341547 ^@ NM_013416.3(NCF4):c.33-6G>A http://identifiers.org/clinvar/341548 ^@ NM_013416.3(NCF4):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/327687 ^@ NM_133459.3(CCBE1):c.*645T>C http://identifiers.org/clinvar/325840 ^@ NM_000199.3(SGSH):c.676G>A (p.Val226Ile) http://identifiers.org/clinvar/341553 ^@ NM_013416.3(NCF4):c.442C>T (p.Arg148Cys) http://identifiers.org/clinvar/341587 ^@ NM_153609.3(TMPRSS6):c.1365G>A (p.Ser455=) http://identifiers.org/clinvar/325847 ^@ NM_000199.3(SGSH):c.89-18_89-15delGTCT http://identifiers.org/clinvar/325866 ^@ NM_001139.2(ALOX12B):c.*118dupA http://identifiers.org/clinvar/341588 ^@ NM_153609.3(TMPRSS6):c.1233C>T (p.Gly411=) http://identifiers.org/clinvar/341592 ^@ NM_153609.3(TMPRSS6):c.1000+11delA http://identifiers.org/clinvar/325874 ^@ NM_001139.2(ALOX12B):c.1592C>T (p.Pro531Leu) http://identifiers.org/clinvar/341596 ^@ NM_153609.3(TMPRSS6):c.720C>T (p.His240=) http://identifiers.org/clinvar/327688 ^@ NM_133459.3(CCBE1):c.*616A>G http://identifiers.org/clinvar/327690 ^@ NM_133459.3(CCBE1):c.*519dupT http://identifiers.org/clinvar/327694 ^@ NM_133459.3(CCBE1):c.*267delT http://identifiers.org/clinvar/325883 ^@ NM_001139.2(ALOX12B):c.1050G>A (p.Lys350=) http://identifiers.org/clinvar/325929 ^@ NM_001139.2(ALOX12B):c.48G>A (p.Ser16=) http://identifiers.org/clinvar/327695 ^@ NM_133459.3(CCBE1):c.*261T>C http://identifiers.org/clinvar/327711 ^@ NM_133459.3(CCBE1):c.-30G>C http://identifiers.org/clinvar/325928 ^@ NM_001139.2(ALOX12B):c.46_48delTCG (p.Ser16del) http://identifiers.org/clinvar/341597 ^@ NM_153609.3(TMPRSS6):c.659-8C>T http://identifiers.org/clinvar/341604 ^@ NM_153609.3(TMPRSS6):c.170T>A (p.Phe57Tyr) http://identifiers.org/clinvar/325937 ^@ NM_001139.2(ALOX12B):c.-199G>A http://identifiers.org/clinvar/327712 ^@ NM_005912.2(MC4R):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/327713 ^@ NM_005912.2(MC4R):c.494G>A (p.Arg165Gln) http://identifiers.org/clinvar/325940 ^@ NM_021628.2(ALOXE3):c.*693G>T http://identifiers.org/clinvar/341607 ^@ NM_006941.3(SOX10):c.*1179G>A http://identifiers.org/clinvar/341609 ^@ NM_006941.3(SOX10):c.*932G>A http://identifiers.org/clinvar/327716 ^@ NM_005912.2(MC4R):c.-60C>G http://identifiers.org/clinvar/327728 ^@ NM_003839.3(TNFRSF11A):c.402G>A (p.Ala134=) http://identifiers.org/clinvar/327731 ^@ NM_003839.3(TNFRSF11A):c.535G>A (p.Gly179Arg) http://identifiers.org/clinvar/327736 ^@ NM_003839.3(TNFRSF11A):c.1397G>A (p.Arg466His) http://identifiers.org/clinvar/327742 ^@ NM_003839.3(TNFRSF11A):c.*320dupG http://identifiers.org/clinvar/325958 ^@ NM_021628.2(ALOXE3):c.1871C>T (p.Thr624Ile) http://identifiers.org/clinvar/341622 ^@ NM_006941.3(SOX10):c.122G>T (p.Gly41Val) http://identifiers.org/clinvar/341624 ^@ NM_003560.2(PLA2G6):c.*589C>G http://identifiers.org/clinvar/341628 ^@ NM_003560.2(PLA2G6):c.*473C>T http://identifiers.org/clinvar/327746 ^@ NM_003839.3(TNFRSF11A):c.*454T>G http://identifiers.org/clinvar/341629 ^@ NM_003560.2(PLA2G6):c.*350C>A http://identifiers.org/clinvar/341634 ^@ NM_003560.2(PLA2G6):c.2259C>T (p.Val753=) http://identifiers.org/clinvar/341637 ^@ NM_003560.2(PLA2G6):c.1648C>T (p.Arg550Trp) http://identifiers.org/clinvar/341641 ^@ NM_003560.2(PLA2G6):c.1205T>A (p.Ile402Asn) http://identifiers.org/clinvar/325968 ^@ NM_021628.2(ALOXE3):c.1503G>C (p.Leu501=) http://identifiers.org/clinvar/341646 ^@ NM_003560.2(PLA2G6):c.441G>A (p.Ala147=) http://identifiers.org/clinvar/341647 ^@ NM_003560.2(PLA2G6):c.439G>A (p.Ala147Thr) http://identifiers.org/clinvar/327751 ^@ NM_003839.3(TNFRSF11A):c.*634C>G http://identifiers.org/clinvar/325969 ^@ NM_021628.2(ALOXE3):c.1365G>A (p.Leu455=) http://identifiers.org/clinvar/327750 ^@ NM_003839.3(TNFRSF11A):c.*634_*635dupCC http://identifiers.org/clinvar/327756 ^@ NM_003839.3(TNFRSF11A):c.*811T>C http://identifiers.org/clinvar/325970 ^@ NM_021628.2(ALOXE3):c.1305+15delG http://identifiers.org/clinvar/325974 ^@ NM_021628.2(ALOXE3):c.680+9A>G http://identifiers.org/clinvar/341649 ^@ NM_003560.2(PLA2G6):c.101C>T (p.Ser34Leu) http://identifiers.org/clinvar/341652 ^@ NM_003560.2(PLA2G6):c.-20C>A http://identifiers.org/clinvar/327767 ^@ NM_005786.5(TSHZ1):c.-444_-443insGG http://identifiers.org/clinvar/325980 ^@ NM_021628.2(ALOXE3):c.-266C>A http://identifiers.org/clinvar/341653 ^@ NM_003560.2(PLA2G6):c.-31C>T http://identifiers.org/clinvar/325983 ^@ NM_021628.2(ALOXE3):c.-304G>T http://identifiers.org/clinvar/341660 ^@ NM_000026.3(ADSL):c.1256G>T (p.Gly419Val) http://identifiers.org/clinvar/325854 ^@ NM_002602.3(PDE6G):c.*399C>T http://identifiers.org/clinvar/327773 ^@ NM_005786.5(TSHZ1):c.-443A>G http://identifiers.org/clinvar/327782 ^@ NM_005786.5(TSHZ1):c.-248A>C http://identifiers.org/clinvar/341661 ^@ NM_022098.3(XPNPEP3):c.-87C>T http://identifiers.org/clinvar/325863 ^@ NM_002602.3(PDE6G):c.-100A>G http://identifiers.org/clinvar/341668 ^@ NM_022098.3(XPNPEP3):c.718A>T (p.Ile240Leu) http://identifiers.org/clinvar/341670 ^@ NM_022098.3(XPNPEP3):c.970-8T>C http://identifiers.org/clinvar/325864 ^@ NM_002602.3(PDE6G):c.-113C>T http://identifiers.org/clinvar/341675 ^@ NM_022098.3(XPNPEP3):c.1188T>C (p.Leu396=) http://identifiers.org/clinvar/327784 ^@ NM_005786.5(TSHZ1):c.-225C>G http://identifiers.org/clinvar/341677 ^@ NM_022098.3(XPNPEP3):c.1313G>A (p.Arg438His) http://identifiers.org/clinvar/327787 ^@ NM_005786.5(TSHZ1):c.-188C>G http://identifiers.org/clinvar/325891 ^@ NM_006907.3(PYCR1):c.*769C>T http://identifiers.org/clinvar/341686 ^@ NM_022098.3(XPNPEP3):c.*700G>A http://identifiers.org/clinvar/325894 ^@ NM_006907.3(PYCR1):c.*622G>A http://identifiers.org/clinvar/325895 ^@ NM_006907.3(PYCR1):c.*504G>C http://identifiers.org/clinvar/325897 ^@ NM_006907.3(PYCR1):c.*477C>T http://identifiers.org/clinvar/325901 ^@ NM_006907.3(PYCR1):c.*62G>C http://identifiers.org/clinvar/325902 ^@ NM_006907.3(PYCR1):c.894C>T (p.Thr298=) http://identifiers.org/clinvar/325903 ^@ NM_006907.3(PYCR1):c.768C>T (p.Asn256=) http://identifiers.org/clinvar/341688 ^@ NM_022098.3(XPNPEP3):c.*877A>G http://identifiers.org/clinvar/341697 ^@ NM_022098.3(XPNPEP3):c.*1427G>A http://identifiers.org/clinvar/327792 ^@ NM_005786.5(TSHZ1):c.-49G>T http://identifiers.org/clinvar/325904 ^@ NM_006907.3(PYCR1):c.633+1G>C http://identifiers.org/clinvar/341698 ^@ NM_022098.3(XPNPEP3):c.*1449A>G http://identifiers.org/clinvar/327793 ^@ NM_005786.5(TSHZ1):c.-9A>G http://identifiers.org/clinvar/325906 ^@ NM_006907.3(PYCR1):c.576T>C (p.Gly192=) http://identifiers.org/clinvar/325907 ^@ NM_006907.3(PYCR1):c.540+11C>T http://identifiers.org/clinvar/325910 ^@ NM_006907.3(PYCR1):c.285C>T (p.Cys95=) http://identifiers.org/clinvar/325912 ^@ NM_006907.3(PYCR1):c.180G>A (p.Val60=) http://identifiers.org/clinvar/325913 ^@ NM_006907.3(PYCR1):c.176C>T (p.Thr59Met) http://identifiers.org/clinvar/341701 ^@ NM_022098.3(XPNPEP3):c.*1607delC http://identifiers.org/clinvar/327794 ^@ NM_005786.5(TSHZ1):c.18G>A (p.Thr6=) http://identifiers.org/clinvar/327813 ^@ NM_005786.5(TSHZ1):c.945G>A (p.Ala315=) http://identifiers.org/clinvar/325986 ^@ NM_025099.5(CTC1):c.*3186G>A http://identifiers.org/clinvar/327819 ^@ NM_005786.5(TSHZ1):c.1389T>C (p.Pro463=) http://identifiers.org/clinvar/327823 ^@ NM_005786.5(TSHZ1):c.1452C>T (p.Pro484=) http://identifiers.org/clinvar/341709 ^@ NM_022098.3(XPNPEP3):c.*2042G>A http://identifiers.org/clinvar/341712 ^@ NM_022098.3(XPNPEP3):c.*2627C>T http://identifiers.org/clinvar/325987 ^@ NM_025099.5(CTC1):c.*2784G>A http://identifiers.org/clinvar/327825 ^@ NM_005786.5(TSHZ1):c.1707C>T (p.Ser569=) http://identifiers.org/clinvar/327828 ^@ NM_005786.5(TSHZ1):c.1743C>T (p.Ser581=) http://identifiers.org/clinvar/325990 ^@ NM_025099.5(CTC1):c.*2353A>G http://identifiers.org/clinvar/325993 ^@ NM_025099.5(CTC1):c.*2115C>G http://identifiers.org/clinvar/327829 ^@ NM_005786.5(TSHZ1):c.1771G>A (p.Val591Met) http://identifiers.org/clinvar/325994 ^@ NM_025099.5(CTC1):c.*2106G>T http://identifiers.org/clinvar/325996 ^@ NM_025099.5(CTC1):c.*2013G>A http://identifiers.org/clinvar/325997 ^@ NM_025099.5(CTC1):c.*2007A>G http://identifiers.org/clinvar/326003 ^@ NM_025099.5(CTC1):c.*1930A>G http://identifiers.org/clinvar/327830 ^@ NM_005786.5(TSHZ1):c.1806G>A (p.Thr602=) http://identifiers.org/clinvar/341713 ^@ NM_022098.3(XPNPEP3):c.*2629G>A http://identifiers.org/clinvar/326011 ^@ NM_025099.5(CTC1):c.*1807G>T http://identifiers.org/clinvar/341716 ^@ NM_022098.3(XPNPEP3):c.*2774dupT http://identifiers.org/clinvar/327833 ^@ NM_005786.5(TSHZ1):c.1907C>T (p.Pro636Leu) http://identifiers.org/clinvar/326013 ^@ NM_025099.5(CTC1):c.*1663G>A http://identifiers.org/clinvar/341721 ^@ NM_022098.3(XPNPEP3):c.*2881C>G http://identifiers.org/clinvar/327834 ^@ NM_005786.5(TSHZ1):c.2065A>C (p.Met689Leu) http://identifiers.org/clinvar/326014 ^@ NM_025099.5(CTC1):c.*1599_*1603delATATTinsTGGAGAGAAATA http://identifiers.org/clinvar/341723 ^@ NM_022098.3(XPNPEP3):c.*2929dupT http://identifiers.org/clinvar/341726 ^@ NM_022098.3(XPNPEP3):c.*3003G>A http://identifiers.org/clinvar/326021 ^@ NM_025099.5(CTC1):c.*1534G>A http://identifiers.org/clinvar/326028 ^@ NM_025099.5(CTC1):c.*1474G>A http://identifiers.org/clinvar/326033 ^@ NM_025099.5(CTC1):c.*1204T>C http://identifiers.org/clinvar/327835 ^@ NM_005786.5(TSHZ1):c.2066T>C (p.Met689Thr) http://identifiers.org/clinvar/341729 ^@ NM_022098.3(XPNPEP3):c.*3238A>G http://identifiers.org/clinvar/341730 ^@ NM_022098.3(XPNPEP3):c.*3298C>T http://identifiers.org/clinvar/327845 ^@ NM_005786.5(TSHZ1):c.2362C>T (p.Arg788Trp) http://identifiers.org/clinvar/326034 ^@ NM_025099.5(CTC1):c.*1201T>C http://identifiers.org/clinvar/326036 ^@ NM_025099.5(CTC1):c.*1177C>T http://identifiers.org/clinvar/326040 ^@ NM_025099.5(CTC1):c.*1155C>T http://identifiers.org/clinvar/326057 ^@ NM_025099.5(CTC1):c.*234C>T http://identifiers.org/clinvar/341732 ^@ NM_022098.3(XPNPEP3):c.*3351C>T http://identifiers.org/clinvar/326060 ^@ NM_025099.5(CTC1):c.*65C>A http://identifiers.org/clinvar/326062 ^@ NM_025099.5(CTC1):c.*43C>T http://identifiers.org/clinvar/327851 ^@ NM_005786.5(TSHZ1):c.2591G>A (p.Arg864Gln) http://identifiers.org/clinvar/326063 ^@ NM_025099.5(CTC1):c.3591C>G (p.Ser1197=) http://identifiers.org/clinvar/326069 ^@ NM_025099.5(CTC1):c.2895C>T (p.Ala965=) http://identifiers.org/clinvar/327853 ^@ NM_005786.5(TSHZ1):c.2644G>C (p.Val882Leu) http://identifiers.org/clinvar/341737 ^@ NM_022098.3(XPNPEP3):c.*3690G>T http://identifiers.org/clinvar/326072 ^@ NM_025099.5(CTC1):c.2386-13T>G http://identifiers.org/clinvar/326073 ^@ NM_025099.5(CTC1):c.2307G>T (p.Trp769Cys) http://identifiers.org/clinvar/326076 ^@ NM_025099.5(CTC1):c.1819-14T>G http://identifiers.org/clinvar/327854 ^@ NM_005786.5(TSHZ1):c.2763G>C (p.Gly921=) http://identifiers.org/clinvar/327859 ^@ NM_005786.5(TSHZ1):c.*36T>G http://identifiers.org/clinvar/326084 ^@ NM_025099.5(CTC1):c.615C>T (p.Tyr205=) http://identifiers.org/clinvar/326092 ^@ NM_025099.5(CTC1):c.-10C>T http://identifiers.org/clinvar/326095 ^@ NM_006796.2(AFG3L2):c.*484A>G http://identifiers.org/clinvar/327861 ^@ NM_005786.5(TSHZ1):c.*441_*442dupAA http://identifiers.org/clinvar/341738 ^@ NM_022098.3(XPNPEP3):c.*3840G>A http://identifiers.org/clinvar/326102 ^@ NM_006796.2(AFG3L2):c.2346G>T (p.Glu782Asp) http://identifiers.org/clinvar/327865 ^@ NM_005786.5(TSHZ1):c.*548T>C http://identifiers.org/clinvar/341740 ^@ NM_022098.3(XPNPEP3):c.*4152dupT http://identifiers.org/clinvar/327876 ^@ NM_021074.4(NDUFV2):c.17C>G (p.Ala6Gly) http://identifiers.org/clinvar/327877 ^@ NM_021074.4(NDUFV2):c.301-10A>G http://identifiers.org/clinvar/326104 ^@ NM_006796.2(AFG3L2):c.2035C>T (p.Arg679Cys) http://identifiers.org/clinvar/327879 ^@ NM_021074.4(NDUFV2):c.510T>C (p.Thr170=) http://identifiers.org/clinvar/327880 ^@ NM_021074.4(NDUFV2):c.546C>T (p.Asn182=) http://identifiers.org/clinvar/326108 ^@ NM_006796.2(AFG3L2):c.498C>T (p.Ser166=) http://identifiers.org/clinvar/327894 ^@ NM_001130823.2(DNMT1):c.3408C>G (p.Pro1136=) http://identifiers.org/clinvar/341747 ^@ NM_022098.3(XPNPEP3):c.*4588A>G http://identifiers.org/clinvar/341751 ^@ NM_022098.3(XPNPEP3):c.*5096T>G http://identifiers.org/clinvar/327896 ^@ NM_001130823.2(DNMT1):c.3351C>T (p.Asn1117=) http://identifiers.org/clinvar/326113 ^@ NM_006796.2(AFG3L2):c.114+12C>T http://identifiers.org/clinvar/341756 ^@ NM_022098.3(XPNPEP3):c.*5643C>G http://identifiers.org/clinvar/327898 ^@ NM_001130823.2(DNMT1):c.2807G>A (p.Arg936Gln) http://identifiers.org/clinvar/326115 ^@ NM_006796.2(AFG3L2):c.89C>T (p.Pro30Leu) http://identifiers.org/clinvar/326117 ^@ NM_006796.2(AFG3L2):c.-56C>A http://identifiers.org/clinvar/326118 ^@ NM_006796.2(AFG3L2):c.-71C>T http://identifiers.org/clinvar/327899 ^@ NM_001130823.2(DNMT1):c.2626G>A (p.Gly876Arg) http://identifiers.org/clinvar/341757 ^@ NM_022098.3(XPNPEP3):c.*5649C>T http://identifiers.org/clinvar/326120 ^@ NM_006796.2(AFG3L2):c.-96G>C http://identifiers.org/clinvar/326121 ^@ NM_006796.2(AFG3L2):c.-137G>C http://identifiers.org/clinvar/326124 ^@ NM_000529.2(MC2R):c.*2427delT http://identifiers.org/clinvar/327904 ^@ NM_001130823.2(DNMT1):c.2117+13G>A http://identifiers.org/clinvar/327906 ^@ NM_001130823.2(DNMT1):c.2019+15G>C http://identifiers.org/clinvar/326125 ^@ NM_000529.2(MC2R):c.*2426T>C http://identifiers.org/clinvar/326131 ^@ NM_000529.2(MC2R):c.*1920T>A http://identifiers.org/clinvar/327911 ^@ NM_001130823.2(DNMT1):c.1436A>C (p.Glu479Ala) http://identifiers.org/clinvar/327915 ^@ NM_001130823.2(DNMT1):c.1044-8delT http://identifiers.org/clinvar/326134 ^@ NM_000529.2(MC2R):c.*1877A>G http://identifiers.org/clinvar/327916 ^@ NM_001130823.2(DNMT1):c.1009-8C>G http://identifiers.org/clinvar/341758 ^@ NM_022098.3(XPNPEP3):c.*5742A>G http://identifiers.org/clinvar/326136 ^@ NM_000529.2(MC2R):c.*1667G>A http://identifiers.org/clinvar/341762 ^@ NM_022098.3(XPNPEP3):c.*6178C>G http://identifiers.org/clinvar/326137 ^@ NM_000529.2(MC2R):c.*1619G>A http://identifiers.org/clinvar/341769 ^@ NM_001429.3(EP300):c.-149G>A http://identifiers.org/clinvar/326139 ^@ NM_000529.2(MC2R):c.*1566G>T http://identifiers.org/clinvar/326143 ^@ NM_000529.2(MC2R):c.*1274T>A http://identifiers.org/clinvar/327917 ^@ NM_001130823.2(DNMT1):c.996C>T (p.Asp332=) http://identifiers.org/clinvar/326146 ^@ NM_000529.2(MC2R):c.*1092G>A http://identifiers.org/clinvar/326153 ^@ NM_000529.2(MC2R):c.*1045_*1048delGTGT http://identifiers.org/clinvar/327920 ^@ NM_001130823.2(DNMT1):c.916C>T (p.Pro306Ser) http://identifiers.org/clinvar/341775 ^@ NM_001429.3(EP300):c.324C>T (p.Ala108=) http://identifiers.org/clinvar/327922 ^@ NM_001130823.2(DNMT1):c.500C>G (p.Pro167Arg) http://identifiers.org/clinvar/326154 ^@ NM_000529.2(MC2R):c.*1043_*1048delGTGTGT http://identifiers.org/clinvar/327923 ^@ NM_001130823.2(DNMT1):c.483T>C (p.Thr161=) http://identifiers.org/clinvar/326156 ^@ NM_000529.2(MC2R):c.*1010T>A http://identifiers.org/clinvar/327930 ^@ NM_001130823.2(DNMT1):c.-72C>T http://identifiers.org/clinvar/327932 ^@ NM_003331.4(TYK2):c.*199A>G http://identifiers.org/clinvar/327937 ^@ NM_003331.4(TYK2):c.2715+9C>T http://identifiers.org/clinvar/341776 ^@ NM_001429.3(EP300):c.444G>A (p.Thr148=) http://identifiers.org/clinvar/327939 ^@ NM_003331.4(TYK2):c.2618-14C>G http://identifiers.org/clinvar/327943 ^@ NM_003331.4(TYK2):c.2017G>T (p.Val673Leu) http://identifiers.org/clinvar/326158 ^@ NM_000529.2(MC2R):c.*998_*1006delTGTGTGTGTinsAGAGA http://identifiers.org/clinvar/326176 ^@ NM_000529.2(MC2R):c.*608A>G http://identifiers.org/clinvar/326192 ^@ NM_000529.2(MC2R):c.795C>T (p.Ile265=) http://identifiers.org/clinvar/327945 ^@ NM_003331.4(TYK2):c.1848T>G (p.Pro616=) http://identifiers.org/clinvar/327947 ^@ NM_003331.4(TYK2):c.1806C>T (p.Asn602=) http://identifiers.org/clinvar/327950 ^@ NM_003331.4(TYK2):c.1141C>T (p.Arg381Trp) http://identifiers.org/clinvar/327952 ^@ NM_003331.4(TYK2):c.942C>T (p.His314=) http://identifiers.org/clinvar/341785 ^@ NM_001429.3(EP300):c.1302C>T (p.Pro434=) http://identifiers.org/clinvar/341786 ^@ NM_001429.3(EP300):c.1516A>G (p.Met506Val) http://identifiers.org/clinvar/326193 ^@ NM_000529.2(MC2R):c.765G>A (p.Met255Ile) http://identifiers.org/clinvar/327960 ^@ NM_003331.4(TYK2):c.193+14G>A http://identifiers.org/clinvar/341788 ^@ NM_001429.3(EP300):c.1540A>G (p.Met514Val) http://identifiers.org/clinvar/326195 ^@ NM_000529.2(MC2R):c.524T>A (p.Val175Glu) http://identifiers.org/clinvar/327966 ^@ NM_003331.4(TYK2):c.-151T>G http://identifiers.org/clinvar/341793 ^@ NM_001429.3(EP300):c.2242-6_2242-4delTTT http://identifiers.org/clinvar/326198 ^@ NM_000529.2(MC2R):c.-44G>C http://identifiers.org/clinvar/327968 ^@ NM_003331.4(TYK2):c.-369C>T http://identifiers.org/clinvar/341794 ^@ NM_001429.3(EP300):c.2393G>A (p.Ser798Asn) http://identifiers.org/clinvar/326199 ^@ NM_000529.2(MC2R):c.-94G>A http://identifiers.org/clinvar/326210 ^@ NM_002894.2(RBBP8):c.-194C>T http://identifiers.org/clinvar/327974 ^@ NM_001005360.2(DNM2):c.450A>G (p.Pro150=) http://identifiers.org/clinvar/327979 ^@ NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val) http://identifiers.org/clinvar/341798 ^@ NM_001429.3(EP300):c.2629G>A (p.Ala877Thr) http://identifiers.org/clinvar/326212 ^@ NM_002894.2(RBBP8):c.-165C>G http://identifiers.org/clinvar/326213 ^@ NM_002894.2(RBBP8):c.-134G>A http://identifiers.org/clinvar/326216 ^@ NM_002894.2(RBBP8):c.-57T>C http://identifiers.org/clinvar/326223 ^@ NM_002894.2(RBBP8):c.927A>G (p.Ser309=) http://identifiers.org/clinvar/326231 ^@ NM_002894.2(RBBP8):c.1967G>A (p.Ser656Asn) http://identifiers.org/clinvar/327984 ^@ NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) http://identifiers.org/clinvar/326248 ^@ NM_000271.4(NPC1):c.3755-6_3755-5delTC http://identifiers.org/clinvar/326250 ^@ NM_000271.4(NPC1):c.3321C>A (p.Gly1107=) http://identifiers.org/clinvar/327986 ^@ NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) http://identifiers.org/clinvar/341800 ^@ NM_001429.3(EP300):c.2931G>C (p.Lys977Asn) http://identifiers.org/clinvar/327995 ^@ NM_001005360.2(DNM2):c.*14C>T http://identifiers.org/clinvar/327998 ^@ NM_001005360.2(DNM2):c.*35C>G http://identifiers.org/clinvar/341802 ^@ NM_001429.3(EP300):c.3162A>G (p.Leu1054=) http://identifiers.org/clinvar/341809 ^@ NM_001429.3(EP300):c.4824C>G (p.Ser1608=) http://identifiers.org/clinvar/341812 ^@ NM_001429.3(EP300):c.5061+7A>G http://identifiers.org/clinvar/328000 ^@ NM_001005360.2(DNM2):c.*79G>A http://identifiers.org/clinvar/341816 ^@ NM_001429.3(EP300):c.5604G>A (p.Thr1868=) http://identifiers.org/clinvar/326251 ^@ NM_000271.4(NPC1):c.3312G>A (p.Val1104=) http://identifiers.org/clinvar/341817 ^@ NM_001429.3(EP300):c.5644A>G (p.Ser1882Gly) http://identifiers.org/clinvar/326254 ^@ NM_000271.4(NPC1):c.2973G>A (p.Gln991=) http://identifiers.org/clinvar/341819 ^@ NM_001429.3(EP300):c.5889C>T (p.Ala1963=) http://identifiers.org/clinvar/341833 ^@ NM_001429.3(EP300):c.*40_*44delCTCTT http://identifiers.org/clinvar/328009 ^@ NM_001005360.2(DNM2):c.*391C>T http://identifiers.org/clinvar/341840 ^@ NM_001429.3(EP300):c.*552G>A http://identifiers.org/clinvar/341841 ^@ NM_001429.3(EP300):c.*559A>G http://identifiers.org/clinvar/328012 ^@ NM_001005360.2(DNM2):c.*601C>T http://identifiers.org/clinvar/328014 ^@ NM_001005360.2(DNM2):c.*711T>C http://identifiers.org/clinvar/341851 ^@ NM_001429.3(EP300):c.*921dupC http://identifiers.org/clinvar/341858 ^@ NM_001429.3(EP300):c.*922_*942del21insCC http://identifiers.org/clinvar/326255 ^@ NM_000271.4(NPC1):c.2832C>T (p.Asp944=) http://identifiers.org/clinvar/326258 ^@ NM_000271.4(NPC1):c.2734A>G (p.Met912Val) http://identifiers.org/clinvar/326261 ^@ NM_000271.4(NPC1):c.2373+14A>G http://identifiers.org/clinvar/341860 ^@ NM_001429.3(EP300):c.*924T>A http://identifiers.org/clinvar/341870 ^@ NM_001429.3(EP300):c.*938A>C http://identifiers.org/clinvar/326262 ^@ NM_000271.4(NPC1):c.2349G>C (p.Leu783Phe) http://identifiers.org/clinvar/341871 ^@ NM_001429.3(EP300):c.*942A>C http://identifiers.org/clinvar/328016 ^@ NM_001128849.1(SMARCA4):c.-43C>T http://identifiers.org/clinvar/326265 ^@ NM_000271.4(NPC1):c.2131A>G (p.Arg711Gly) http://identifiers.org/clinvar/341872 ^@ NM_001429.3(EP300):c.*968T>A http://identifiers.org/clinvar/341874 ^@ NM_052945.3(TNFRSF13C):c.*120T>C http://identifiers.org/clinvar/341884 ^@ NM_052945.3(TNFRSF13C):c.-10C>A http://identifiers.org/clinvar/328026 ^@ NM_001128849.1(SMARCA4):c.1944-12C>T http://identifiers.org/clinvar/326274 ^@ NM_000271.4(NPC1):c.966C>T (p.Ser322=) http://identifiers.org/clinvar/328030 ^@ NM_001128849.1(SMARCA4):c.2565C>T (p.Val855=) http://identifiers.org/clinvar/326289 ^@ NM_000271.4(NPC1):c.-238C>G http://identifiers.org/clinvar/326294 ^@ NM_000227.4(LAMA3):c.304G>A (p.Ala102Thr) http://identifiers.org/clinvar/326297 ^@ NM_000227.4(LAMA3):c.477-4G>A http://identifiers.org/clinvar/326298 ^@ NM_000227.4(LAMA3):c.583+10A>G http://identifiers.org/clinvar/328031 ^@ NM_001128849.1(SMARCA4):c.2616+14G>T http://identifiers.org/clinvar/341892 ^@ NM_000262.2(NAGA):c.*1299C>T http://identifiers.org/clinvar/341893 ^@ NM_000262.2(NAGA):c.*1252T>C http://identifiers.org/clinvar/326305 ^@ NM_000227.4(LAMA3):c.1021C>G (p.Gln341Glu) http://identifiers.org/clinvar/328042 ^@ NM_001128849.1(SMARCA4):c.4864+15G>C http://identifiers.org/clinvar/341896 ^@ NM_000262.2(NAGA):c.*926C>G http://identifiers.org/clinvar/341898 ^@ NM_000262.2(NAGA):c.*268G>A http://identifiers.org/clinvar/341900 ^@ NM_000262.2(NAGA):c.*161T>C http://identifiers.org/clinvar/326308 ^@ NM_000227.4(LAMA3):c.1375-12T>A http://identifiers.org/clinvar/328046 ^@ NM_001128849.1(SMARCA4):c.*346G>A http://identifiers.org/clinvar/341901 ^@ NM_000262.2(NAGA):c.*155A>G http://identifiers.org/clinvar/341909 ^@ NM_000262.2(NAGA):c.638G>A (p.Arg213His) http://identifiers.org/clinvar/326311 ^@ NM_000227.4(LAMA3):c.1789-13G>T http://identifiers.org/clinvar/328047 ^@ NM_001128849.1(SMARCA4):c.*401G>A http://identifiers.org/clinvar/326313 ^@ NM_000227.4(LAMA3):c.2294G>A (p.Arg765Gln) http://identifiers.org/clinvar/328049 ^@ NM_000527.4(LDLR):c.191-15C>G http://identifiers.org/clinvar/341911 ^@ NM_000262.2(NAGA):c.406G>A (p.Asp136Asn) http://identifiers.org/clinvar/328050 ^@ NM_000527.4(LDLR):c.498C>T (p.Ala166=) http://identifiers.org/clinvar/341913 ^@ NM_000262.2(NAGA):c.110G>A (p.Arg37His) http://identifiers.org/clinvar/341916 ^@ NM_000262.2(NAGA):c.-43C>T http://identifiers.org/clinvar/328061 ^@ NM_000527.4(LDLR):c.*376C>A http://identifiers.org/clinvar/328070 ^@ NM_000527.4(LDLR):c.*666T>C http://identifiers.org/clinvar/328078 ^@ NM_000527.4(LDLR):c.*946C>A http://identifiers.org/clinvar/328088 ^@ NM_000527.4(LDLR):c.*1217C>G http://identifiers.org/clinvar/328093 ^@ NM_000527.4(LDLR):c.*1292C>T http://identifiers.org/clinvar/341921 ^@ NM_025225.2(PNPLA3):c.-168C>A http://identifiers.org/clinvar/341926 ^@ NM_025225.2(PNPLA3):c.187+12G>A http://identifiers.org/clinvar/326314 ^@ NM_000227.4(LAMA3):c.2391C>T (p.Asp797=) http://identifiers.org/clinvar/328097 ^@ NM_000527.4(LDLR):c.*1354T>C http://identifiers.org/clinvar/341927 ^@ NM_025225.2(PNPLA3):c.216T>C (p.Leu72=) http://identifiers.org/clinvar/326319 ^@ NM_000227.4(LAMA3):c.2718C>T (p.Pro906=) http://identifiers.org/clinvar/341929 ^@ NM_025225.2(PNPLA3):c.309G>A (p.Pro103=) http://identifiers.org/clinvar/326322 ^@ NM_000227.4(LAMA3):c.2900A>G (p.Asn967Ser) http://identifiers.org/clinvar/326329 ^@ NM_000227.4(LAMA3):c.3414C>T (p.Val1138=) http://identifiers.org/clinvar/341935 ^@ NM_025225.2(PNPLA3):c.646A>C (p.Thr216Pro) http://identifiers.org/clinvar/341936 ^@ NM_025225.2(PNPLA3):c.659A>G (p.Tyr220Cys) http://identifiers.org/clinvar/341939 ^@ NM_025225.2(PNPLA3):c.980-14A>C http://identifiers.org/clinvar/341941 ^@ NM_025225.2(PNPLA3):c.1112+14G>A http://identifiers.org/clinvar/328099 ^@ NM_000527.4(LDLR):c.*1376T>C http://identifiers.org/clinvar/341943 ^@ NM_025225.2(PNPLA3):c.1300A>G (p.Lys434Glu) http://identifiers.org/clinvar/341947 ^@ NM_025225.2(PNPLA3):c.1419C>T (p.Pro473=) http://identifiers.org/clinvar/326336 ^@ NM_000227.4(LAMA3):c.3829C>T (p.Arg1277Cys) http://identifiers.org/clinvar/328100 ^@ NM_000527.4(LDLR):c.*1419C>A http://identifiers.org/clinvar/326342 ^@ NM_000227.4(LAMA3):c.4200-14G>A http://identifiers.org/clinvar/341949 ^@ NM_025225.2(PNPLA3):c.*63C>T http://identifiers.org/clinvar/328107 ^@ NM_000527.4(LDLR):c.*1752G>A http://identifiers.org/clinvar/328108 ^@ NM_000527.4(LDLR):c.*1762T>G http://identifiers.org/clinvar/341956 ^@ NM_025225.2(PNPLA3):c.*747T>A http://identifiers.org/clinvar/341958 ^@ NM_025225.2(PNPLA3):c.*960T>G http://identifiers.org/clinvar/326356 ^@ NM_000227.4(LAMA3):c.*352A>G http://identifiers.org/clinvar/328114 ^@ NM_000527.4(LDLR):c.*1917G>A http://identifiers.org/clinvar/341961 ^@ NM_025225.2(PNPLA3):c.*987_*989dupAAA http://identifiers.org/clinvar/341966 ^@ NM_025225.2(PNPLA3):c.*1175A>C http://identifiers.org/clinvar/326357 ^@ NM_000227.4(LAMA3):c.*395A>T http://identifiers.org/clinvar/326541 ^@ NM_014646.2(LPIN2):c.*3280C>T http://identifiers.org/clinvar/326542 ^@ NM_014646.2(LPIN2):c.*3217A>G http://identifiers.org/clinvar/326547 ^@ NM_014646.2(LPIN2):c.*3015T>C http://identifiers.org/clinvar/326551 ^@ NM_014646.2(LPIN2):c.*2924delC http://identifiers.org/clinvar/326556 ^@ NM_014646.2(LPIN2):c.*2830C>T http://identifiers.org/clinvar/326559 ^@ NM_014646.2(LPIN2):c.*2759A>C http://identifiers.org/clinvar/326580 ^@ NM_014646.2(LPIN2):c.*1622T>C http://identifiers.org/clinvar/341970 ^@ NM_006953.3(UPK3A):c.209-11C>T http://identifiers.org/clinvar/328119 ^@ NM_000527.4(LDLR):c.*2076dupC http://identifiers.org/clinvar/326584 ^@ NM_014646.2(LPIN2):c.*1514G>A http://identifiers.org/clinvar/328121 ^@ NM_000527.4(LDLR):c.*2204_*2211dupTATATATA http://identifiers.org/clinvar/328123 ^@ NM_000527.4(LDLR):c.*2208T>C http://identifiers.org/clinvar/326592 ^@ NM_014646.2(LPIN2):c.*1052T>C http://identifiers.org/clinvar/328127 ^@ NM_000527.4(LDLR):c.*2365C>T http://identifiers.org/clinvar/341972 ^@ NM_006953.3(UPK3A):c.260C>A (p.Ser87Ter) http://identifiers.org/clinvar/341984 ^@ NM_006953.3(UPK3A):c.704+8C>A http://identifiers.org/clinvar/326595 ^@ NM_014646.2(LPIN2):c.*1021G>A http://identifiers.org/clinvar/326596 ^@ NM_014646.2(LPIN2):c.*950A>C http://identifiers.org/clinvar/326597 ^@ NM_014646.2(LPIN2):c.*947dupA http://identifiers.org/clinvar/326609 ^@ NM_014646.2(LPIN2):c.*725G>A http://identifiers.org/clinvar/326611 ^@ NM_014646.2(LPIN2):c.*703dupG http://identifiers.org/clinvar/326619 ^@ NM_014646.2(LPIN2):c.*501T>C http://identifiers.org/clinvar/328129 ^@ NM_000527.4(LDLR):c.*2384G>T http://identifiers.org/clinvar/341991 ^@ NM_018006.4(TRMU):c.-281G>A http://identifiers.org/clinvar/326622 ^@ NM_014646.2(LPIN2):c.*362T>C http://identifiers.org/clinvar/328143 ^@ NM_000121.3(EPOR):c.1138C>G (p.Pro380Ala) http://identifiers.org/clinvar/328146 ^@ NM_000121.3(EPOR):c.980C>T (p.Pro327Leu) http://identifiers.org/clinvar/342002 ^@ NM_018006.4(TRMU):c.-44G>A http://identifiers.org/clinvar/342003 ^@ NM_018006.4(TRMU):c.-35G>A http://identifiers.org/clinvar/326624 ^@ NM_014646.2(LPIN2):c.*275C>G http://identifiers.org/clinvar/342009 ^@ NM_018006.4(TRMU):c.865G>A (p.Val289Met) http://identifiers.org/clinvar/326634 ^@ NM_014646.2(LPIN2):c.2211C>T (p.Ala737=) http://identifiers.org/clinvar/342012 ^@ NM_018006.4(TRMU):c.927C>T (p.Arg309=) http://identifiers.org/clinvar/328151 ^@ NM_000121.3(EPOR):c.558C>T (p.Ala186=) http://identifiers.org/clinvar/342017 ^@ NM_018006.4(TRMU):c.1164G>A (p.Pro388=) http://identifiers.org/clinvar/328153 ^@ NM_000121.3(EPOR):c.215T>C (p.Val72Ala) http://identifiers.org/clinvar/326637 ^@ NM_014646.2(LPIN2):c.1783G>C (p.Ala595Pro) http://identifiers.org/clinvar/326638 ^@ NM_014646.2(LPIN2):c.1456+4C>G http://identifiers.org/clinvar/342020 ^@ NM_018006.4(TRMU):c.*43T>G http://identifiers.org/clinvar/326639 ^@ NM_014646.2(LPIN2):c.1404C>T (p.Asp468=) http://identifiers.org/clinvar/326640 ^@ NM_014646.2(LPIN2):c.1395C>T (p.Asp465=) http://identifiers.org/clinvar/342024 ^@ NM_018006.4(TRMU):c.*149G>A http://identifiers.org/clinvar/326645 ^@ NM_014646.2(LPIN2):c.1168+6C>T http://identifiers.org/clinvar/326648 ^@ NM_014646.2(LPIN2):c.590+6A>G http://identifiers.org/clinvar/328156 ^@ NM_000121.3(EPOR):c.115+7A>G http://identifiers.org/clinvar/328159 ^@ NM_000121.3(EPOR):c.-68G>A http://identifiers.org/clinvar/342028 ^@ NM_018006.4(TRMU):c.*276G>A http://identifiers.org/clinvar/328166 ^@ NM_002743.3(PRKCSH):c.-130C>T http://identifiers.org/clinvar/342034 ^@ NM_024105.3(ALG12):c.*280G>A http://identifiers.org/clinvar/326649 ^@ NM_014646.2(LPIN2):c.353T>C (p.Ile118Thr) http://identifiers.org/clinvar/326655 ^@ NM_014646.2(LPIN2):c.-125G>A http://identifiers.org/clinvar/328172 ^@ NM_002743.3(PRKCSH):c.393C>T (p.Ala131=) http://identifiers.org/clinvar/342040 ^@ NM_024105.3(ALG12):c.1427C>G (p.Thr476Arg) http://identifiers.org/clinvar/328173 ^@ NM_002743.3(PRKCSH):c.404G>T (p.Arg135Leu) http://identifiers.org/clinvar/342043 ^@ NM_024105.3(ALG12):c.1299C>T (p.Leu433=) http://identifiers.org/clinvar/326658 ^@ NM_014646.2(LPIN2):c.-192C>T http://identifiers.org/clinvar/342049 ^@ NM_024105.3(ALG12):c.672G>A (p.Thr224=) http://identifiers.org/clinvar/326359 ^@ NM_024422.4(DSC2):c.*1784G>T http://identifiers.org/clinvar/328182 ^@ NM_002743.3(PRKCSH):c.807C>T (p.Tyr269=) http://identifiers.org/clinvar/328183 ^@ NM_002743.3(PRKCSH):c.823G>A (p.Ala275Thr) http://identifiers.org/clinvar/328184 ^@ NM_002743.3(PRKCSH):c.834C>T (p.Asp278=) http://identifiers.org/clinvar/326365 ^@ NM_024422.4(DSC2):c.*1444A>G http://identifiers.org/clinvar/326369 ^@ NM_024422.4(DSC2):c.*1183G>A http://identifiers.org/clinvar/328185 ^@ NM_002743.3(PRKCSH):c.850-12C>T http://identifiers.org/clinvar/328187 ^@ NM_002743.3(PRKCSH):c.930G>A (p.Ser310=) http://identifiers.org/clinvar/326370 ^@ NM_024422.4(DSC2):c.*1158A>G http://identifiers.org/clinvar/342061 ^@ NM_024105.3(ALG12):c.55G>A (p.Ala19Thr) http://identifiers.org/clinvar/326371 ^@ NM_024422.4(DSC2):c.*1126G>T http://identifiers.org/clinvar/328189 ^@ NM_002743.3(PRKCSH):c.1071G>A (p.Pro357=) http://identifiers.org/clinvar/328191 ^@ NM_002743.3(PRKCSH):c.1183G>A (p.Glu395Lys) http://identifiers.org/clinvar/326372 ^@ NM_024422.4(DSC2):c.*1104G>A http://identifiers.org/clinvar/326375 ^@ NM_024422.4(DSC2):c.*934C>A http://identifiers.org/clinvar/328198 ^@ NM_002743.3(PRKCSH):c.*16+6C>T http://identifiers.org/clinvar/328202 ^@ NM_000455.4(STK11):c.-1098G>A http://identifiers.org/clinvar/342074 ^@ NM_015166.3(MLC1):c.*1981dupG http://identifiers.org/clinvar/342075 ^@ NM_015166.3(MLC1):c.*1963C>G http://identifiers.org/clinvar/342080 ^@ NM_015166.3(MLC1):c.*1499C>T http://identifiers.org/clinvar/328219 ^@ NM_000455.4(STK11):c.-229C>G http://identifiers.org/clinvar/342083 ^@ NM_015166.3(MLC1):c.*1334G>A http://identifiers.org/clinvar/328224 ^@ NM_000455.4(STK11):c.-107dupT http://identifiers.org/clinvar/342088 ^@ NM_015166.3(MLC1):c.*970G>C http://identifiers.org/clinvar/326376 ^@ NM_024422.4(DSC2):c.*864G>A http://identifiers.org/clinvar/342093 ^@ NM_015166.3(MLC1):c.*773G>A http://identifiers.org/clinvar/328231 ^@ NM_000455.4(STK11):c.746C>T (p.Thr249Ile) http://identifiers.org/clinvar/342094 ^@ NM_015166.3(MLC1):c.*627G>A http://identifiers.org/clinvar/328244 ^@ NM_000455.4(STK11):c.*678G>A http://identifiers.org/clinvar/342096 ^@ NM_015166.3(MLC1):c.*533T>C http://identifiers.org/clinvar/326377 ^@ NM_024422.4(DSC2):c.*833G>C http://identifiers.org/clinvar/328253 ^@ NM_000528.3(MAN2B1):c.2865G>A (p.Thr955=) http://identifiers.org/clinvar/328254 ^@ NM_000528.3(MAN2B1):c.2785C>T (p.Arg929Cys) http://identifiers.org/clinvar/328255 ^@ NM_000528.3(MAN2B1):c.2701C>A (p.His901Asn) http://identifiers.org/clinvar/326384 ^@ NM_024422.4(DSC2):c.*640G>T http://identifiers.org/clinvar/326387 ^@ NM_024422.4(DSC2):c.*422C>T http://identifiers.org/clinvar/342101 ^@ NM_015166.3(MLC1):c.*339C>T http://identifiers.org/clinvar/342106 ^@ NM_015166.3(MLC1):c.627C>T (p.Ala209=) http://identifiers.org/clinvar/326393 ^@ NM_024422.4(DSC2):c.2430G>A (p.Arg810=) http://identifiers.org/clinvar/375939 ^@ NM_004333.4(BRAF):c.1799_1800delTGinsAT (p.Val600Asp) http://identifiers.org/clinvar/375940 ^@ NM_004333.4(BRAF):c.1798_1799delGTinsAG (p.Val600Arg) http://identifiers.org/clinvar/375941 ^@ NM_004333.4(BRAF):c.1798_1799delGTinsAA (p.Val600Lys) http://identifiers.org/clinvar/375942 ^@ NM_004333.4(BRAF):c.1789_1790delCTinsTC (p.Leu597Ser) http://identifiers.org/clinvar/375943 ^@ NM_004333.4(BRAF):c.1786G>C (p.Gly596Arg) http://identifiers.org/clinvar/375944 ^@ NM_004333.4(BRAF):c.1782T>G (p.Asp594Glu) http://identifiers.org/clinvar/375945 ^@ NM_004333.4(BRAF):c.1782T>A (p.Asp594Glu) http://identifiers.org/clinvar/375946 ^@ NM_004333.4(BRAF):c.1781A>T (p.Asp594Val) http://identifiers.org/clinvar/375947 ^@ NM_004333.4(BRAF):c.1780G>C (p.Asp594His) http://identifiers.org/clinvar/375948 ^@ NM_004333.4(BRAF):c.1779_1780delTGinsGA (p.Asp594Asn) http://identifiers.org/clinvar/375949 ^@ NM_004333.4(BRAF):c.1415A>G (p.Tyr472Cys) http://identifiers.org/clinvar/375950 ^@ NM_004333.4(BRAF):c.1405_1406delGGinsTT (p.Gly469Leu) http://identifiers.org/clinvar/375951 ^@ NM_004972.3(JAK2):c.2047A>G (p.Arg683Gly) http://identifiers.org/clinvar/375952 ^@ NM_004972.3(JAK2):c.2048G>C (p.Arg683Thr) http://identifiers.org/clinvar/375953 ^@ NM_004972.3(JAK2):c.2049A>C (p.Arg683Ser) http://identifiers.org/clinvar/375954 ^@ NM_004972.3(JAK2):c.2049A>T (p.Arg683Ser) http://identifiers.org/clinvar/375955 ^@ NM_002072.4(GNAQ):c.626A>T (p.Gln209Leu) http://identifiers.org/clinvar/375956 ^@ NM_002072.4(GNAQ):c.626A>G (p.Gln209Arg) http://identifiers.org/clinvar/375957 ^@ NM_002072.4(GNAQ):c.626A>C (p.Gln209Pro) http://identifiers.org/clinvar/375958 ^@ NM_000314.6(PTEN):c.388C>G (p.Arg130Gly) http://identifiers.org/clinvar/375959 ^@ NM_000314.6(PTEN):c.477G>T (p.Arg159Ser) http://identifiers.org/clinvar/375961 ^@ NM_005343.3(HRAS):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/375962 ^@ NM_004985.4(KRAS):c.437C>T (p.Ala146Val) http://identifiers.org/clinvar/375963 ^@ NM_033360.3(KRAS):c.436G>C (p.Ala146Pro) http://identifiers.org/clinvar/375964 ^@ NM_033360.3(KRAS):c.351A>T (p.Lys117Asn) http://identifiers.org/clinvar/375965 ^@ NM_004985.4(KRAS):c.351A>C (p.Lys117Asn) http://identifiers.org/clinvar/375966 ^@ NM_004985.4(KRAS):c.182A>C (p.Gln61Pro) http://identifiers.org/clinvar/375967 ^@ NM_033360.3(KRAS):c.38G>C (p.Gly13Ala) http://identifiers.org/clinvar/375968 ^@ NM_033360.3(KRAS):c.37G>A (p.Gly13Ser) http://identifiers.org/clinvar/375969 ^@ NM_004119.2(FLT3):c.2508C>G (p.Ile836Met) http://identifiers.org/clinvar/375970 ^@ NM_004119.2(FLT3):c.2506A>C (p.Ile836Leu) http://identifiers.org/clinvar/375971 ^@ NM_004119.2(FLT3):c.2505T>G (p.Asp835Glu) http://identifiers.org/clinvar/375972 ^@ NM_004119.2(FLT3):c.2505T>A (p.Asp835Glu) http://identifiers.org/clinvar/375973 ^@ NM_004119.2(FLT3):c.2504A>C (p.Asp835Ala) http://identifiers.org/clinvar/375974 ^@ NC_000015.9:g.28505962_28505962delCAGGTCAGGACCGTT http://identifiers.org/clinvar/375975 ^@ NM_004667.5(HERC2):c.2264T>C (p.Leu755Ser) http://identifiers.org/clinvar/375976 ^@ NM_004667.5(HERC2):c.926C>G (p.Ala309Gly) http://identifiers.org/clinvar/375977 ^@ NM_002755.3(MAP2K1):c.157T>C (p.Phe53Leu) http://identifiers.org/clinvar/375978 ^@ NM_002755.3(MAP2K1):c.167A>C (p.Gln56Pro) http://identifiers.org/clinvar/375979 ^@ NM_002755.3(MAP2K1):c.332T>G (p.Ile111Ser) http://identifiers.org/clinvar/375980 ^@ NM_002755.3(MAP2K1):c.362G>C (p.Cys121Ser) http://identifiers.org/clinvar/375981 ^@ NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) http://identifiers.org/clinvar/375982 ^@ NM_002755.3(MAP2K1):c.607G>A (p.Glu203Lys) http://identifiers.org/clinvar/375983 ^@ NM_002755.3(MAP2K1):c.790C>T (p.Pro264Ser) http://identifiers.org/clinvar/375984 ^@ NM_002755.3(MAP2K1):c.1144A>C (p.Asn382His) http://identifiers.org/clinvar/375985 ^@ NM_002168.3(IDH2):c.516G>C (p.Arg172Ser) http://identifiers.org/clinvar/375986 ^@ NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) http://identifiers.org/clinvar/375987 ^@ NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) http://identifiers.org/clinvar/375988 ^@ NM_002168.3(IDH2):c.419G>T (p.Arg140Leu) http://identifiers.org/clinvar/375989 ^@ NM_002168.3(IDH2):c.418C>T (p.Arg140Trp) http://identifiers.org/clinvar/375990 ^@ NC_000017.10:g.37880219_37880219delTTGAGGGAAAACACA http://identifiers.org/clinvar/375991 ^@ NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) http://identifiers.org/clinvar/375992 ^@ NM_001005862.2(ERBB2):c.2215G>T (p.Asp739Tyr) http://identifiers.org/clinvar/375993 ^@ NM_001289936.1(ERBB2):c.2287_2288insGGCTCCCCA (p.Gly763_Ser764insLeuProSer) http://identifiers.org/clinvar/375994 ^@ NM_004448.3(ERBB2):c.2524G>A (p.Val842Ile) http://identifiers.org/clinvar/375995 ^@ NM_004448.3(ERBB2):c.2686C>T (p.Arg896Cys) http://identifiers.org/clinvar/375996 ^@ NM_005359.5(SMAD4):c.989A>C (p.Glu330Ala) http://identifiers.org/clinvar/375997 ^@ NM_005359.5(SMAD4):c.1051G>A (p.Asp351Asn) http://identifiers.org/clinvar/375998 ^@ NM_005359.5(SMAD4):c.1051G>C (p.Asp351His) http://identifiers.org/clinvar/375999 ^@ NM_005359.5(SMAD4):c.1065C>A (p.Asp355Glu) http://identifiers.org/clinvar/376000 ^@ NM_005359.5(SMAD4):c.1609G>T (p.Asp537Tyr) http://identifiers.org/clinvar/376001 ^@ NM_002067.4(GNA11):c.626A>C (p.Gln209Pro) http://identifiers.org/clinvar/376002 ^@ NM_002067.4(GNA11):c.626A>T (p.Gln209Leu) http://identifiers.org/clinvar/376003 ^@ NM_022148.3(CRLF2):c.695T>G (p.Phe232Cys) http://identifiers.org/clinvar/376004 ^@ NM_012433.3(SF3B1):c.2098A>G (p.Lys700Glu) http://identifiers.org/clinvar/376005 ^@ NM_012433.3(SF3B1):c.1998G>C (p.Lys666Asn) http://identifiers.org/clinvar/376006 ^@ NM_012433.3(SF3B1):c.1997A>G (p.Lys666Arg) http://identifiers.org/clinvar/376007 ^@ NM_012433.3(SF3B1):c.1997A>C (p.Lys666Thr) http://identifiers.org/clinvar/376008 ^@ NM_012433.3(SF3B1):c.1996A>G (p.Lys666Glu) http://identifiers.org/clinvar/376009 ^@ NM_002520.6(NPM1):c.862_863insCATG (p.Trp288Serfs) http://identifiers.org/clinvar/376010 ^@ NM_002520.6(NPM1):c.862_863insCCTG (p.Trp288Serfs) http://identifiers.org/clinvar/376011 ^@ NM_002520.6(NPM1):c.862_863insTCAG (p.Trp288Phefs) http://identifiers.org/clinvar/376012 ^@ NM_002520.6(NPM1):c.862_863insTCTG (p.Trp288Phefs) http://identifiers.org/clinvar/376013 ^@ NM_001198551.1(WT1):c.506_507insTGTACGGT (p.Ala170Valfs) http://identifiers.org/clinvar/376014 ^@ NM_004119.2(FLT3):c.2516A>G (p.Asp839Gly) http://identifiers.org/clinvar/376015 ^@ NM_001126112.2(TP53):c.746G>C (p.Arg249Thr) http://identifiers.org/clinvar/376016 ^@ NM_001126112.2(TP53):c.518T>G (p.Val173Gly) http://identifiers.org/clinvar/376017 ^@ NM_001126113.2(TP53):c.518T>C (p.Val173Ala) http://identifiers.org/clinvar/376018 ^@ NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) http://identifiers.org/clinvar/376019 ^@ NM_001754.4(RUNX1):c.486G>T (p.Arg162Ser) http://identifiers.org/clinvar/376020 ^@ NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) http://identifiers.org/clinvar/376021 ^@ NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) http://identifiers.org/clinvar/376022 ^@ NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) http://identifiers.org/clinvar/376023 ^@ NM_001025203.1(U2AF1):c.470A>G (p.Gln157Arg) http://identifiers.org/clinvar/376024 ^@ NM_001025203.1(U2AF1):c.470A>C (p.Gln157Pro) http://identifiers.org/clinvar/376025 ^@ NM_006758.2(U2AF1):c.101C>T (p.Ser34Phe) http://identifiers.org/clinvar/376026 ^@ NM_001025203.1(U2AF1):c.101C>A (p.Ser34Tyr) http://identifiers.org/clinvar/376027 ^@ NM_002524.4(NRAS):c.181C>T (p.Gln61Ter) http://identifiers.org/clinvar/376028 ^@ NM_002524.4(NRAS):c.52G>A (p.Ala18Thr) http://identifiers.org/clinvar/376029 ^@ NM_005373.2(MPL):c.1513A>T (p.Ser505Cys) http://identifiers.org/clinvar/376030 ^@ NM_002227.3(JAK1):c.1972G>T (p.Val658Phe) http://identifiers.org/clinvar/376032 ^@ NM_000314.6(PTEN):c.518G>A (p.Arg173His) http://identifiers.org/clinvar/376033 ^@ NM_005343.3(HRAS):c.182A>T (p.Gln61Leu) http://identifiers.org/clinvar/376034 ^@ NM_004985.4(KRAS):c.57G>T (p.Leu19Phe) http://identifiers.org/clinvar/376035 ^@ NM_004448.3(ERBB2):c.2264T>C (p.Leu755Ser) http://identifiers.org/clinvar/376036 ^@ NM_001289936.1(ERBB2):c.2284G>C (p.Val762Leu) http://identifiers.org/clinvar/376037 ^@ NM_000215.3(JAK3):c.1715C>T (p.Ala572Val) http://identifiers.org/clinvar/376038 ^@ NM_001626.5(AKT2):c.1112G>A (p.Arg371His) http://identifiers.org/clinvar/376039 ^@ NM_001626.5(AKT2):c.904A>G (p.Ser302Gly) http://identifiers.org/clinvar/376040 ^@ NM_012433.3(SF3B1):c.2100A>T (p.Lys700Asn) http://identifiers.org/clinvar/376041 ^@ NM_012433.3(SF3B1):c.2100A>C (p.Lys700Asn) http://identifiers.org/clinvar/376042 ^@ NM_012433.3(SF3B1):c.2099A>T (p.Lys700Ile) http://identifiers.org/clinvar/376043 ^@ NM_012433.3(SF3B1):c.2099A>G (p.Lys700Arg) http://identifiers.org/clinvar/376044 ^@ NM_012433.3(SF3B1):c.2099A>C (p.Lys700Thr) http://identifiers.org/clinvar/376045 ^@ NM_012433.3(SF3B1):c.2098A>T (p.Lys700Ter) http://identifiers.org/clinvar/376046 ^@ NM_012433.3(SF3B1):c.2098A>C (p.Lys700Gln) http://identifiers.org/clinvar/376047 ^@ NM_000551.3(VHL):c.266T>A (p.Leu89His) http://identifiers.org/clinvar/376048 ^@ NM_000551.3(VHL):c.473T>A (p.Leu158Gln) http://identifiers.org/clinvar/376049 ^@ NM_006218.3(PIK3CA):c.263G>A (p.Arg88Gln) http://identifiers.org/clinvar/376050 ^@ NM_006218.3(PIK3CA):c.1035T>A (p.Asn345Lys) http://identifiers.org/clinvar/376051 ^@ NM_006218.3(PIK3CA):c.1035T>G (p.Asn345Lys) http://identifiers.org/clinvar/376052 ^@ NM_006218.3(PIK3CA):c.2102A>C (p.His701Pro) http://identifiers.org/clinvar/376053 ^@ NM_006218.3(PIK3CA):c.3145G>C (p.Gly1049Arg) http://identifiers.org/clinvar/376054 ^@ NM_001904.3(CTNNB1):c.94G>C (p.Asp32His) http://identifiers.org/clinvar/376055 ^@ NM_006206.4(PDGFRA):c.2524_2525delGAinsAT (p.Asp842Ile) http://identifiers.org/clinvar/376056 ^@ NM_000222.2(KIT):c.1675G>A (p.Val559Ile) http://identifiers.org/clinvar/376057 ^@ NM_000222.2(KIT):c.1961T>A (p.Val654Glu) http://identifiers.org/clinvar/376058 ^@ NM_000222.2(KIT):c.2009C>T (p.Thr670Ile) http://identifiers.org/clinvar/376059 ^@ NM_001127511.2(APC):c.3862G>T (p.Glu1288Ter) http://identifiers.org/clinvar/376060 ^@ NM_001127511.2(APC):c.4045C>T (p.Gln1349Ter) http://identifiers.org/clinvar/376061 ^@ NM_001127511.2(APC):c.4078C>T (p.Gln1360Ter) http://identifiers.org/clinvar/376062 ^@ NM_000038.5(APC):c.4135G>T (p.Glu1379Ter) http://identifiers.org/clinvar/376063 ^@ NM_001127511.2(APC):c.4231C>T (p.Gln1411Ter) http://identifiers.org/clinvar/376064 ^@ NM_181523.2(PIK3R1):c.1126G>A (p.Gly376Arg) http://identifiers.org/clinvar/376065 ^@ NM_181523.2(PIK3R1):c.1126G>C (p.Gly376Arg) http://identifiers.org/clinvar/376066 ^@ NM_181523.2(PIK3R1):c.1692C>A (p.Asn564Lys) http://identifiers.org/clinvar/376067 ^@ NM_181523.2(PIK3R1):c.1692C>G (p.Asn564Lys) http://identifiers.org/clinvar/376068 ^@ NM_001127500.2(MET):c.3334C>T (p.His1112Tyr) http://identifiers.org/clinvar/376069 ^@ NM_004333.4(BRAF):c.1799_1800delTGinsAA (p.Val600Glu) http://identifiers.org/clinvar/376070 ^@ NM_004333.4(BRAF):c.1781A>C (p.Asp594Ala) http://identifiers.org/clinvar/376071 ^@ NM_004333.4(BRAF):c.1774A>G (p.Ile592Val) http://identifiers.org/clinvar/376072 ^@ NM_004333.4(BRAF):c.1405_1406delGGinsTC (p.Gly469Ser) http://identifiers.org/clinvar/376073 ^@ NM_004333.4(BRAF):c.1397G>A (p.Gly466Glu) http://identifiers.org/clinvar/376074 ^@ NM_004333.4(BRAF):c.1330C>T (p.Arg444Trp) http://identifiers.org/clinvar/376075 ^@ NM_005228.4(EGFR):c.2156G>A (p.Gly719Asp) http://identifiers.org/clinvar/376076 ^@ NM_005228.4(EGFR):c.2198C>T (p.Pro733Leu) http://identifiers.org/clinvar/376077 ^@ NM_005228.4(EGFR):c.2200G>A (p.Glu734Lys) http://identifiers.org/clinvar/376078 ^@ NM_005228.4(EGFR):c.2203G>A (p.Gly735Ser) http://identifiers.org/clinvar/376079 ^@ NM_005228.4(EGFR):c.2225T>C (p.Val742Ala) http://identifiers.org/clinvar/376080 ^@ NM_005228.4(EGFR):c.2234A>G (p.Lys745Arg) http://identifiers.org/clinvar/376081 ^@ NM_005228.4(EGFR):c.2257C>T (p.Pro753Ser) http://identifiers.org/clinvar/376082 ^@ NM_005228.4(EGFR):c.2281G>A (p.Asp761Asn) http://identifiers.org/clinvar/376083 ^@ NM_005228.4(EGFR):c.2318A>G (p.His773Arg) http://identifiers.org/clinvar/376084 ^@ NM_005157.5(ABL1):c.730A>G (p.Met244Val) http://identifiers.org/clinvar/376085 ^@ NM_005157.5(ABL1):c.742C>G (p.Leu248Val) http://identifiers.org/clinvar/376086 ^@ NM_005157.5(ABL1):c.749G>A (p.Gly250Glu) http://identifiers.org/clinvar/376087 ^@ NM_005157.5(ABL1):c.756G>C (p.Gln252His) http://identifiers.org/clinvar/376088 ^@ NM_007313.2(ABL1):c.813G>T (p.Gln271His) http://identifiers.org/clinvar/376089 ^@ NM_005157.5(ABL1):c.758A>T (p.Tyr253Phe) http://identifiers.org/clinvar/376090 ^@ NM_007313.2(ABL1):c.820G>A (p.Glu274Lys) http://identifiers.org/clinvar/376091 ^@ NM_005157.5(ABL1):c.764A>T (p.Glu255Val) http://identifiers.org/clinvar/376092 ^@ NM_005157.5(ABL1):c.847T>G (p.Phe283Val) http://identifiers.org/clinvar/376093 ^@ NM_005157.5(ABL1):c.951C>A (p.Phe317Leu) http://identifiers.org/clinvar/376094 ^@ NM_007313.2(ABL1):c.1008C>G (p.Phe336Leu) http://identifiers.org/clinvar/376095 ^@ NM_005157.5(ABL1):c.1064A>G (p.Glu355Gly) http://identifiers.org/clinvar/376096 ^@ NM_005157.5(ABL1):c.1075T>G (p.Phe359Val) http://identifiers.org/clinvar/376097 ^@ NM_005157.5(ABL1):c.1187A>G (p.His396Arg) http://identifiers.org/clinvar/376098 ^@ NM_002185.3(IL7R):c.553A>T (p.Ser185Cys) http://identifiers.org/clinvar/376099 ^@ NM_002227.3(JAK1):c.1937C>T (p.Ser646Phe) http://identifiers.org/clinvar/376100 ^@ NM_005228.4(EGFR):c.1474A>G (p.Ser492Gly) http://identifiers.org/clinvar/376101 ^@ NM_000222.2(KIT):c.2467T>G (p.Tyr823Asp) http://identifiers.org/clinvar/376102 ^@ NM_004119.2(FLT3):c.2525A>G (p.Tyr842Cys) http://identifiers.org/clinvar/376103 ^@ NM_004119.2(FLT3):c.2524T>C (p.Tyr842His) http://identifiers.org/clinvar/376104 ^@ NM_004119.2(FLT3):c.2503_2504delGAinsTT (p.Asp835Phe) http://identifiers.org/clinvar/376105 ^@ NM_004119.2(FLT3):c.2073T>G (p.Phe691Leu) http://identifiers.org/clinvar/376106 ^@ NM_004119.2(FLT3):c.2073T>A (p.Phe691Leu) http://identifiers.org/clinvar/376107 ^@ NM_004119.2(FLT3):c.2059A>T (p.Ile687Phe) http://identifiers.org/clinvar/376108 ^@ NM_004119.2(FLT3):c.2028C>G (p.Asn676Lys) http://identifiers.org/clinvar/376109 ^@ NM_004119.2(FLT3):c.2028C>A (p.Asn676Lys) http://identifiers.org/clinvar/376110 ^@ NM_004119.2(FLT3):c.2026A>G (p.Asn676Asp) http://identifiers.org/clinvar/376111 ^@ NM_004119.2(FLT3):c.1952A>G (p.Asp651Gly) http://identifiers.org/clinvar/376112 ^@ NM_004119.2(FLT3):c.1855G>T (p.Gly619Cys) http://identifiers.org/clinvar/376113 ^@ NM_000215.3(JAK3):c.1970G>A (p.Arg657Gln) http://identifiers.org/clinvar/376114 ^@ NM_000215.3(JAK3):c.1503G>T (p.Gln501His) http://identifiers.org/clinvar/376115 ^@ NM_000215.3(JAK3):c.1503G>C (p.Gln501His) http://identifiers.org/clinvar/376116 ^@ NM_000215.3(JAK3):c.260T>C (p.Ile87Thr) http://identifiers.org/clinvar/376117 ^@ NM_007313.2(ABL1):c.952G>C (p.Val318Leu) http://identifiers.org/clinvar/376118 ^@ NM_005157.5(ABL1):c.943A>G (p.Thr315Ala) http://identifiers.org/clinvar/376119 ^@ NM_005157.5(ABL1):c.949T>A (p.Phe317Ile) http://identifiers.org/clinvar/376120 ^@ NM_007313.2(ABL1):c.1006T>G (p.Phe336Val) http://identifiers.org/clinvar/376121 ^@ NM_007313.2(ABL1):c.1007T>G (p.Phe336Cys) http://identifiers.org/clinvar/376122 ^@ NM_007313.2(ABL1):c.1132T>A (p.Phe378Ile) http://identifiers.org/clinvar/376123 ^@ NM_005157.5(ABL1):c.1075T>C (p.Phe359Leu) http://identifiers.org/clinvar/376124 ^@ NM_005157.5(ABL1):c.1076T>G (p.Phe359Cys) http://identifiers.org/clinvar/376125 ^@ NM_156039.3(CSF3R):c.1843A>G (p.Thr615Ala) http://identifiers.org/clinvar/376126 ^@ NM_001127500.2(MET):c.3803T>C (p.Met1268Thr) http://identifiers.org/clinvar/376127 ^@ NM_004958.3(MTOR):c.7514G>C (p.Arg2505Pro) http://identifiers.org/clinvar/376128 ^@ NM_004958.3(MTOR):c.6667C>A (p.Gln2223Lys) http://identifiers.org/clinvar/376129 ^@ NM_004958.3(MTOR):c.6644C>A (p.Ser2215Tyr) http://identifiers.org/clinvar/376130 ^@ NM_004958.3(MTOR):c.4379T>C (p.Leu1460Pro) http://identifiers.org/clinvar/376131 ^@ NM_004958.3(MTOR):c.6040G>A (p.Glu2014Lys) http://identifiers.org/clinvar/376132 ^@ NM_004304.4(ALK):c.3806G>C (p.Gly1269Ala) http://identifiers.org/clinvar/376133 ^@ NM_004304.4(ALK):c.3617C>A (p.Ser1206Tyr) http://identifiers.org/clinvar/376134 ^@ NM_004304.4(ALK):c.3604G>A (p.Gly1202Arg) http://identifiers.org/clinvar/376135 ^@ NM_004304.4(ALK):c.3586C>A (p.Leu1196Met) http://identifiers.org/clinvar/376136 ^@ NM_004304.4(ALK):c.3455T>G (p.Leu1152Arg) http://identifiers.org/clinvar/376137 ^@ NM_001654.4(ARAF):c.641C>G (p.Ser214Cys) http://identifiers.org/clinvar/376138 ^@ NM_001289938.1(ERBB2):c.836G>A (p.Gly279Glu) http://identifiers.org/clinvar/376139 ^@ NM_002944.2(ROS1):c.6094G>A (p.Gly2032Arg) http://identifiers.org/clinvar/376140 ^@ NM_001014796.1(DDR2):c.187C>G (p.Leu63Val) http://identifiers.org/clinvar/376141 ^@ NM_001014796.1(DDR2):c.716T>G (p.Leu239Arg) http://identifiers.org/clinvar/376142 ^@ NM_001014796.1(DDR2):c.757G>T (p.Gly253Cys) http://identifiers.org/clinvar/376143 ^@ NM_001014796.1(DDR2):c.1912A>T (p.Ile638Phe) http://identifiers.org/clinvar/376144 ^@ NM_001014796.1(DDR2):c.2321G>T (p.Gly774Val) http://identifiers.org/clinvar/376145 ^@ NM_005228.4(EGFR):c.2582T>C (p.Leu861Pro) http://identifiers.org/clinvar/376146 ^@ NM_004431.4(EPHA2):c.1171G>C (p.Gly391Arg) http://identifiers.org/clinvar/376147 ^@ NM_022970.3(FGFR2):c.959C>G (p.Ser320Cys) http://identifiers.org/clinvar/376148 ^@ NM_000222.2(KIT):c.2459A>T (p.Asp820Val) http://identifiers.org/clinvar/376149 ^@ NM_213647.2(FGFR4):c.1605C>A (p.Asn535Lys) http://identifiers.org/clinvar/376150 ^@ NM_213647.2(FGFR4):c.1605C>G (p.Asn535Lys) http://identifiers.org/clinvar/376151 ^@ NM_213647.2(FGFR4):c.1649T>A (p.Val550Glu) http://identifiers.org/clinvar/376152 ^@ NM_005228.4(EGFR):c.2068G>A (p.Glu690Lys) http://identifiers.org/clinvar/376153 ^@ NM_022970.3(FGFR2):c.1978A>G (p.Lys660Glu) http://identifiers.org/clinvar/376154 ^@ NM_000141.4(FGFR2):c.1849T>A (p.Leu617Met) http://identifiers.org/clinvar/376155 ^@ NM_000141.4(FGFR2):c.1690G>A (p.Val564Ile) http://identifiers.org/clinvar/376156 ^@ NM_022970.3(FGFR2):c.1650T>G (p.Asn550Lys) http://identifiers.org/clinvar/376157 ^@ NM_000141.4(FGFR2):c.1647T>A (p.Asn549Lys) http://identifiers.org/clinvar/376158 ^@ NM_000141.4(FGFR2):c.1639A>G (p.Ile547Val) http://identifiers.org/clinvar/376159 ^@ NM_022970.3(FGFR2):c.1614G>T (p.Met538Ile) http://identifiers.org/clinvar/376160 ^@ NM_022970.3(FGFR2):c.1614G>C (p.Met538Ile) http://identifiers.org/clinvar/376161 ^@ NM_000141.4(FGFR2):c.1611G>A (p.Met537Ile) http://identifiers.org/clinvar/376162 ^@ NM_000141.4(FGFR2):c.1605G>T (p.Met535Ile) http://identifiers.org/clinvar/376163 ^@ NM_022970.3(FGFR2):c.1608G>C (p.Met536Ile) http://identifiers.org/clinvar/376164 ^@ NM_022970.3(FGFR2):c.1608G>A (p.Met536Ile) http://identifiers.org/clinvar/376165 ^@ NM_005027.3(PIK3R2):c.1681A>G (p.Asn561Asp) http://identifiers.org/clinvar/376166 ^@ NM_005211.3(CSF1R):c.1711T>G (p.Tyr571Asp) http://identifiers.org/clinvar/376167 ^@ NM_001982.3(ERBB3):c.850G>A (p.Gly284Arg) http://identifiers.org/clinvar/376168 ^@ NM_005163.2(AKT1):c.235C>A (p.Gln79Lys) http://identifiers.org/clinvar/376169 ^@ NM_004333.4(BRAF):c.1802A>G (p.Lys601Arg) http://identifiers.org/clinvar/376170 ^@ NM_005235.2(ERBB4):c.2614G>A (p.Glu872Lys) http://identifiers.org/clinvar/376171 ^@ NM_005235.2(ERBB4):c.1624G>A (p.Glu542Lys) http://identifiers.org/clinvar/376172 ^@ NM_005235.2(ERBB4):c.1177C>T (p.Arg393Trp) http://identifiers.org/clinvar/376173 ^@ NM_002755.3(MAP2K1):c.169A>G (p.Lys57Glu) http://identifiers.org/clinvar/376174 ^@ NM_002755.3(MAP2K1):c.171G>C (p.Lys57Asn) http://identifiers.org/clinvar/376175 ^@ NM_002755.3(MAP2K1):c.385T>C (p.Phe129Leu) http://identifiers.org/clinvar/376176 ^@ NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) http://identifiers.org/clinvar/376177 ^@ NM_030662.3(MAP2K2):c.373T>A (p.Cys125Ser) http://identifiers.org/clinvar/376178 ^@ NM_030662.3(MAP2K2):c.179A>C (p.Gln60Pro) http://identifiers.org/clinvar/376179 ^@ NM_030662.3(MAP2K2):c.136C>T (p.Leu46Phe) http://identifiers.org/clinvar/376180 ^@ NM_030662.3(MAP2K2):c.103G>A (p.Val35Met) http://identifiers.org/clinvar/376181 ^@ NM_006206.4(PDGFRA):c.1729C>T (p.Pro577Ser) http://identifiers.org/clinvar/376182 ^@ NM_006206.4(PDGFRA):c.1973T>C (p.Val658Ala) http://identifiers.org/clinvar/376183 ^@ NM_006206.4(PDGFRA):c.2522G>A (p.Arg841Lys) http://identifiers.org/clinvar/376184 ^@ NM_006206.4(PDGFRA):c.2533C>T (p.His845Tyr) http://identifiers.org/clinvar/376185 ^@ NM_006206.4(PDGFRA):c.2558G>A (p.Gly853Asp) http://identifiers.org/clinvar/376186 ^@ NM_002880.3(RAF1):c.1103G>C (p.Trp368Ser) http://identifiers.org/clinvar/376187 ^@ NM_000455.4(STK11):c.582C>G (p.Asp194Glu) http://identifiers.org/clinvar/376188 ^@ NM_001289938.1(ERBB2):c.839C>A (p.Ser280Tyr) http://identifiers.org/clinvar/376189 ^@ NM_001289938.1(ERBB2):c.839C>T (p.Ser280Phe) http://identifiers.org/clinvar/376190 ^@ NM_001982.3(ERBB3):c.785C>A (p.Pro262His) http://identifiers.org/clinvar/376191 ^@ NM_001982.3(ERBB3):c.2426A>G (p.Gln809Arg) http://identifiers.org/clinvar/376192 ^@ NM_002755.3(MAP2K1):c.296T>C (p.Ile99Thr) http://identifiers.org/clinvar/376193 ^@ NM_002755.3(MAP2K1):c.308T>A (p.Ile103Asn) http://identifiers.org/clinvar/376194 ^@ NM_002755.3(MAP2K1):c.332T>A (p.Ile111Asn) http://identifiers.org/clinvar/376195 ^@ NM_002755.3(MAP2K1):c.356A>C (p.His119Pro) http://identifiers.org/clinvar/376196 ^@ NM_002755.3(MAP2K1):c.360G>C (p.Glu120Asp) http://identifiers.org/clinvar/376197 ^@ NM_002755.3(MAP2K1):c.360G>T (p.Glu120Asp) http://identifiers.org/clinvar/376198 ^@ NM_002755.3(MAP2K1):c.632T>A (p.Val211Asp) http://identifiers.org/clinvar/376199 ^@ NM_002755.3(MAP2K1):c.644T>C (p.Leu215Pro) http://identifiers.org/clinvar/376200 ^@ NM_001127500.2(MET):c.3757T>G (p.Tyr1253Asp) http://identifiers.org/clinvar/376201 ^@ NM_001127500.2(MET):c.3804G>C (p.Met1268Ile) http://identifiers.org/clinvar/376202 ^@ NM_001127500.2(MET):c.3804G>T (p.Met1268Ile) http://identifiers.org/clinvar/376203 ^@ NM_000061.2(BTK):c.1442G>C (p.Cys481Ser) http://identifiers.org/clinvar/376204 ^@ NM_000061.2(BTK):c.1441T>A (p.Cys481Ser) http://identifiers.org/clinvar/376205 ^@ NM_001005862.2(ERBB2):c.836G>C (p.Gly279Ala) http://identifiers.org/clinvar/376206 ^@ NM_000125.3(ESR1):c.1138G>C (p.Glu380Gln) http://identifiers.org/clinvar/376207 ^@ NM_005228.4(EGFR):c.323G>A (p.Arg108Lys) http://identifiers.org/clinvar/376208 ^@ NM_005228.4(EGFR):c.787A>C (p.Thr263Pro) http://identifiers.org/clinvar/376209 ^@ NM_005228.4(EGFR):c.866C>T (p.Ala289Val) http://identifiers.org/clinvar/376210 ^@ NM_005228.4(EGFR):c.1793G>T (p.Gly598Val) http://identifiers.org/clinvar/376211 ^@ NM_005228.4(EGFR):c.1636C>T (p.Pro546Ser) http://identifiers.org/clinvar/376212 ^@ NM_005228.4(EGFR):c.2527G>A (p.Val843Ile) http://identifiers.org/clinvar/376213 ^@ NM_002661.4(PLCG2):c.1993C>T (p.Arg665Trp) http://identifiers.org/clinvar/376214 ^@ NM_002661.4(PLCG2):c.2535A>C (p.Leu845Phe) http://identifiers.org/clinvar/376215 ^@ NM_002661.4(PLCG2):c.2535A>T (p.Leu845Phe) http://identifiers.org/clinvar/376216 ^@ NM_001163213.1(FGFR3):c.1663G>A (p.Val555Met) http://identifiers.org/clinvar/376217 ^@ NM_004456.4(EZH2):c.1936T>A (p.Tyr646Asn) http://identifiers.org/clinvar/376218 ^@ NM_004456.4(EZH2):c.1937A>C (p.Tyr646Ser) http://identifiers.org/clinvar/376219 ^@ NM_004456.4(EZH2):c.2045C>G (p.Ala682Gly) http://identifiers.org/clinvar/376220 ^@ NM_002524.4(NRAS):c.181_182delCAinsAG (p.Gln61Arg) http://identifiers.org/clinvar/376221 ^@ NM_002524.4(NRAS):c.37G>A (p.Gly13Ser) http://identifiers.org/clinvar/376222 ^@ NM_000551.3(VHL):c.254T>C (p.Leu85Pro) http://identifiers.org/clinvar/376223 ^@ NM_001904.3(CTNNB1):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/376224 ^@ NM_001904.3(CTNNB1):c.61G>A (p.Ala21Thr) http://identifiers.org/clinvar/376225 ^@ NC_000003.11:g.41266067_41266117delGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGT http://identifiers.org/clinvar/376226 ^@ NM_001904.3(CTNNB1):c.65T>C (p.Val22Ala) http://identifiers.org/clinvar/376227 ^@ NM_001904.3(CTNNB1):c.73_96del24 (p.Trp25_Asp32del) http://identifiers.org/clinvar/376228 ^@ NM_001904.3(CTNNB1):c.94G>A (p.Asp32Asn) http://identifiers.org/clinvar/376229 ^@ NM_001904.3(CTNNB1):c.95A>C (p.Asp32Ala) http://identifiers.org/clinvar/376230 ^@ NM_001904.3(CTNNB1):c.95A>T (p.Asp32Val) http://identifiers.org/clinvar/376231 ^@ NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) http://identifiers.org/clinvar/376232 ^@ NM_001904.3(CTNNB1):c.100G>A (p.Gly34Arg) http://identifiers.org/clinvar/376233 ^@ NM_001904.3(CTNNB1):c.100G>C (p.Gly34Arg) http://identifiers.org/clinvar/376234 ^@ NM_001904.3(CTNNB1):c.109T>C (p.Ser37Pro) http://identifiers.org/clinvar/376235 ^@ NM_001904.3(CTNNB1):c.109T>G (p.Ser37Ala) http://identifiers.org/clinvar/376236 ^@ NM_001904.3(CTNNB1):c.118A>C (p.Thr40Pro) http://identifiers.org/clinvar/376237 ^@ NM_001904.3(CTNNB1):c.118A>G (p.Thr40Ala) http://identifiers.org/clinvar/376238 ^@ NM_001904.3(CTNNB1):c.118A>T (p.Thr40Ser) http://identifiers.org/clinvar/376239 ^@ NM_001904.3(CTNNB1):c.119C>G (p.Thr40Ser) http://identifiers.org/clinvar/376240 ^@ NM_001904.3(CTNNB1):c.119C>T (p.Thr40Ile) http://identifiers.org/clinvar/376241 ^@ NM_001904.3(CTNNB1):c.133T>G (p.Ser45Ala) http://identifiers.org/clinvar/376242 ^@ NM_001904.3(CTNNB1):c.134C>G (p.Ser45Cys) http://identifiers.org/clinvar/376243 ^@ NM_006218.3(PIK3CA):c.1616C>G (p.Pro539Arg) http://identifiers.org/clinvar/376244 ^@ NM_006218.3(PIK3CA):c.1624G>C (p.Glu542Gln) http://identifiers.org/clinvar/376245 ^@ NM_006218.3(PIK3CA):c.1635G>C (p.Glu545Asp) http://identifiers.org/clinvar/376246 ^@ NM_006218.3(PIK3CA):c.3062A>G (p.Tyr1021Cys) http://identifiers.org/clinvar/376247 ^@ NM_006218.3(PIK3CA):c.3145G>A (p.Gly1049Ser) http://identifiers.org/clinvar/376248 ^@ NM_001163213.1(FGFR3):c.2095G>T (p.Gly699Cys) http://identifiers.org/clinvar/376249 ^@ NM_006206.4(PDGFRA):c.2521_2526delAGAGAC (p.Arg841_Asp842del) http://identifiers.org/clinvar/376250 ^@ NM_006206.4(PDGFRA):c.2524G>T (p.Asp842Tyr) http://identifiers.org/clinvar/376251 ^@ NM_006206.4(PDGFRA):c.2524_2532delGACATCATG (p.Asp842_Met844del) http://identifiers.org/clinvar/376252 ^@ NM_006206.4(PDGFRA):c.2524_2535delGACATCATGCAT (p.Ile843_Asp846del) http://identifiers.org/clinvar/376253 ^@ NM_006206.4(PDGFRA):c.2527_2538delATCATGCATGAT (p.Ile843_Asp846del) http://identifiers.org/clinvar/376254 ^@ NM_000222.2(KIT):c.154G>A (p.Asp52Asn) http://identifiers.org/clinvar/376256 ^@ NM_000222.2(KIT):c.2474T>C (p.Val825Ala) http://identifiers.org/clinvar/376257 ^@ NC_000005.9:g.67589552_67589552delGAA http://identifiers.org/clinvar/376258 ^@ NM_181523.2(PIK3R1):c.1381C>T (p.Arg461Ter) http://identifiers.org/clinvar/376259 ^@ NM_181523.2(PIK3R1):c.1678G>T (p.Asp560Tyr) http://identifiers.org/clinvar/376260 ^@ NM_181523.2(PIK3R1):c.1678_1695del18 (p.Asp560_Ser565del) http://identifiers.org/clinvar/376261 ^@ NM_181523.2(PIK3R1):c.1690A>G (p.Asn564Asp) http://identifiers.org/clinvar/376262 ^@ NM_181523.2(PIK3R1):c.1726_1728delACG (p.Thr576del) http://identifiers.org/clinvar/376263 ^@ NC_000005.9:g.67591249_67591249delTGG http://identifiers.org/clinvar/376264 ^@ NM_000038.5(APC):c.3928_3938delAAGATTGGAAC (p.Lys1310Terfs) http://identifiers.org/clinvar/376265 ^@ NM_001127511.2(APC):c.3874_3893del20 (p.Lys1292Terfs) http://identifiers.org/clinvar/376266 ^@ NM_001127511.2(APC):c.4342_4346delGGACC (p.Gly1448Terfs) http://identifiers.org/clinvar/376267 ^@ NM_000038.5(APC):c.4669_4676delATTGATTC (p.Ile1557Terfs) http://identifiers.org/clinvar/376268 ^@ NM_005211.3(CSF1R):c.2907T>G (p.Tyr969Ter) http://identifiers.org/clinvar/376269 ^@ NM_005211.3(CSF1R):c.2907T>A (p.Tyr969Ter) http://identifiers.org/clinvar/376270 ^@ NM_005211.3(CSF1R):c.2906A>T (p.Tyr969Phe) http://identifiers.org/clinvar/376271 ^@ NM_005211.3(CSF1R):c.2906A>G (p.Tyr969Cys) http://identifiers.org/clinvar/376272 ^@ NM_005211.3(CSF1R):c.2905T>C (p.Tyr969His) http://identifiers.org/clinvar/376273 ^@ NM_005211.3(CSF1R):c.902T>C (p.Leu301Ser) http://identifiers.org/clinvar/376274 ^@ NM_005211.3(CSF1R):c.902T>A (p.Leu301Ter) http://identifiers.org/clinvar/376275 ^@ NM_005228.4(EGFR):c.2193G>A (p.Trp731Ter) http://identifiers.org/clinvar/376276 ^@ NM_005228.4(EGFR):c.2236G>A (p.Glu746Lys) http://identifiers.org/clinvar/376277 ^@ NM_005228.4(EGFR):c.2255C>A (p.Ser752Tyr) http://identifiers.org/clinvar/376278 ^@ NM_005228.4(EGFR):c.2428G>A (p.Gly810Ser) http://identifiers.org/clinvar/376279 ^@ NM_005228.4(EGFR):c.2429G>A (p.Gly810Asp) http://identifiers.org/clinvar/376280 ^@ NM_005228.4(EGFR):c.2572_2573delCTinsAG (p.Leu858Arg) http://identifiers.org/clinvar/376281 ^@ NM_005228.4(EGFR):c.2573T>A (p.Leu858Gln) http://identifiers.org/clinvar/376282 ^@ NM_005228.4(EGFR):c.2573_2574delTGinsGT (p.Leu858Arg) http://identifiers.org/clinvar/376283 ^@ NM_004333.4(BRAF):c.1814G>A (p.Ser605Asn) http://identifiers.org/clinvar/376284 ^@ NM_004333.4(BRAF):c.1813_1814delAGinsTT (p.Ser605Phe) http://identifiers.org/clinvar/376285 ^@ NM_004333.4(BRAF):c.1803A>T (p.Lys601Asn) http://identifiers.org/clinvar/376286 ^@ NM_004333.4(BRAF):c.1803A>C (p.Lys601Asn) http://identifiers.org/clinvar/376287 ^@ NM_004333.4(BRAF):c.1801_1803delAAA (p.Lys601del) http://identifiers.org/clinvar/376288 ^@ NM_004333.4(BRAF):c.1799T>C (p.Val600Ala) http://identifiers.org/clinvar/376289 ^@ NM_004333.4(BRAF):c.1798G>C (p.Val600Leu) http://identifiers.org/clinvar/376290 ^@ NM_004333.4(BRAF):c.1784T>C (p.Phe595Ser) http://identifiers.org/clinvar/376291 ^@ NM_004333.4(BRAF):c.1776A>G (p.Ile592Met) http://identifiers.org/clinvar/376292 ^@ NM_004333.4(BRAF):c.1761C>G (p.Asp587Glu) http://identifiers.org/clinvar/376293 ^@ NM_004333.4(BRAF):c.1761C>A (p.Asp587Glu) http://identifiers.org/clinvar/376294 ^@ NM_004333.4(BRAF):c.1760A>C (p.Asp587Ala) http://identifiers.org/clinvar/376295 ^@ NM_004333.4(BRAF):c.1397G>C (p.Gly466Ala) http://identifiers.org/clinvar/376296 ^@ NM_023110.2(FGFR1):c.754C>A (p.Pro252Thr) http://identifiers.org/clinvar/376297 ^@ NM_023110.2(FGFR1):c.374C>T (p.Ser125Leu) http://identifiers.org/clinvar/376298 ^@ NM_002467.4(MYC):c.169C>T (p.Pro57Ser) http://identifiers.org/clinvar/376299 ^@ NM_002467.4(MYC):c.176C>T (p.Ala59Val) http://identifiers.org/clinvar/376300 ^@ NM_002467.4(MYC):c.218C>T (p.Thr73Ile) http://identifiers.org/clinvar/376301 ^@ NM_002467.4(MYC):c.230C>T (p.Ser77Phe) http://identifiers.org/clinvar/376302 ^@ NM_002467.4(MYC):c.778C>G (p.Pro260Ala) http://identifiers.org/clinvar/376303 ^@ NM_058195.3(CDKN2A):c.373G>A (p.Gly125Arg) http://identifiers.org/clinvar/376304 ^@ NM_000077.4(CDKN2A):c.329G>A (p.Trp110Ter) http://identifiers.org/clinvar/376305 ^@ NM_000077.4(CDKN2A):c.262G>T (p.Glu88Ter) http://identifiers.org/clinvar/376306 ^@ NM_058195.3(CDKN2A):c.293G>T (p.Arg98Leu) http://identifiers.org/clinvar/376307 ^@ NM_058195.3(CDKN2A):c.290C>T (p.Ala97Val) http://identifiers.org/clinvar/376308 ^@ NM_058195.3(CDKN2A):c.248G>T (p.Gly83Val) http://identifiers.org/clinvar/376309 ^@ NM_058195.3(CDKN2A):c.224G>T (p.Gly75Val) http://identifiers.org/clinvar/376310 ^@ NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) http://identifiers.org/clinvar/376311 ^@ NM_002072.4(GNAQ):c.625_626delCAinsTT (p.Gln209Leu) http://identifiers.org/clinvar/376312 ^@ NM_020630.4(RET):c.1834_1860del27 (p.Phe612_Cys620del) http://identifiers.org/clinvar/376313 ^@ NM_020975.4(RET):c.1894_1899delGAGCTG (p.Glu632_Leu633del) http://identifiers.org/clinvar/376314 ^@ NM_020630.4(RET):c.2692_2703delGATGTTTATGAA (p.Asp898_Glu901del) http://identifiers.org/clinvar/376315 ^@ NM_022970.3(FGFR2):c.1917T>A (p.Asn639Lys) http://identifiers.org/clinvar/376316 ^@ NM_022970.3(FGFR2):c.1144T>C (p.Tyr382His) http://identifiers.org/clinvar/376317 ^@ NM_000141.4(FGFR2):c.929A>G (p.Lys310Arg) http://identifiers.org/clinvar/376318 ^@ NM_005343.3(HRAS):c.183G>T (p.Gln61His) http://identifiers.org/clinvar/376319 ^@ NM_005343.3(HRAS):c.183G>C (p.Gln61His) http://identifiers.org/clinvar/376320 ^@ NM_005343.3(HRAS):c.182_183delAGinsGT (p.Gln61Arg) http://identifiers.org/clinvar/376321 ^@ NM_005343.3(HRAS):c.182_183delAGinsGA (p.Gln61Arg) http://identifiers.org/clinvar/376322 ^@ NM_005343.3(HRAS):c.182A>C (p.Gln61Pro) http://identifiers.org/clinvar/376323 ^@ NM_005343.3(HRAS):c.37G>A (p.Gly13Ser) http://identifiers.org/clinvar/376324 ^@ NM_033360.3(KRAS):c.181C>G (p.Gln61Glu) http://identifiers.org/clinvar/376325 ^@ NM_004985.4(KRAS):c.64C>A (p.Gln22Lys) http://identifiers.org/clinvar/376326 ^@ NM_004119.2(FLT3):c.2506_2508delATC (p.Ile836del) http://identifiers.org/clinvar/376328 ^@ NM_004119.2(FLT3):c.1715A>G (p.Tyr572Cys) http://identifiers.org/clinvar/376329 ^@ NM_000321.2(RB1):c.596T>A (p.Leu199Ter) http://identifiers.org/clinvar/376330 ^@ NM_000321.2(RB1):c.2117G>T (p.Cys706Phe) http://identifiers.org/clinvar/376331 ^@ NM_002755.3(MAP2K1):c.361T>A (p.Cys121Ser) http://identifiers.org/clinvar/376333 ^@ NM_001289936.1(ERBB2):c.2309T>C (p.Leu770Pro) http://identifiers.org/clinvar/376334 ^@ NM_000455.4(STK11):c.109C>T (p.Gln37Ter) http://identifiers.org/clinvar/376335 ^@ NM_000455.4(STK11):c.581A>T (p.Asp194Val) http://identifiers.org/clinvar/376336 ^@ NM_000455.4(STK11):c.587G>T (p.Gly196Val) http://identifiers.org/clinvar/376337 ^@ NM_000455.4(STK11):c.595G>A (p.Glu199Lys) http://identifiers.org/clinvar/376338 ^@ NM_000455.4(STK11):c.595G>T (p.Glu199Ter) http://identifiers.org/clinvar/376339 ^@ NM_000455.4(STK11):c.996G>A (p.Trp332Ter) http://identifiers.org/clinvar/376340 ^@ NM_004304.4(ALK):c.3467G>A (p.Cys1156Tyr) http://identifiers.org/clinvar/376341 ^@ NM_005228.4(EGFR):c.1476C>A (p.Ser492Arg) http://identifiers.org/clinvar/376342 ^@ NM_005228.4(EGFR):c.2389T>A (p.Cys797Ser) http://identifiers.org/clinvar/376343 ^@ NM_004448.3(ERBB2):c.2264T>G (p.Leu755Trp) http://identifiers.org/clinvar/376344 ^@ NM_004448.3(ERBB2):c.2033G>A (p.Arg678Gln) http://identifiers.org/clinvar/376345 ^@ NM_017617.4(NOTCH1):c.4924G>C (p.Asp1642His) http://identifiers.org/clinvar/376346 ^@ NM_017617.4(NOTCH1):c.6979C>T (p.Arg2327Trp) http://identifiers.org/clinvar/376347 ^@ NM_000044.4(AR):c.2629T>C (p.Phe877Leu) http://identifiers.org/clinvar/376348 ^@ NM_023067.3(FOXL2):c.402C>G (p.Cys134Trp) http://identifiers.org/clinvar/376349 ^@ NM_012229.4(NT5C2):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/376350 ^@ NM_012229.4(NT5C2):c.1075A>C (p.Lys359Gln) http://identifiers.org/clinvar/376351 ^@ NM_012229.4(NT5C2):c.1220A>C (p.Asp407Ala) http://identifiers.org/clinvar/376352 ^@ NM_005157.5(ABL1):c.949T>C (p.Phe317Leu) http://identifiers.org/clinvar/376353 ^@ NM_000051.3(ATM):c.8623A>C (p.Asn2875His) http://identifiers.org/clinvar/376354 ^@ NM_006206.4(PDGFRA):c.1682T>C (p.Val561Ala) http://identifiers.org/clinvar/376355 ^@ NM_006297.2(XRCC1):c.580C>T (p.Arg194Trp) http://identifiers.org/clinvar/376356 ^@ NC_000003.11:g.142274740_142274740delA http://identifiers.org/clinvar/376357 ^@ NM_004958.3(MTOR):c.5902C>T (p.His1968Tyr) http://identifiers.org/clinvar/376358 ^@ NM_004958.3(MTOR):c.6637C>T (p.Pro2213Ser) http://identifiers.org/clinvar/376359 ^@ NM_006218.3(PIK3CA):c.1412C>T (p.Pro471Leu) http://identifiers.org/clinvar/376360 ^@ NM_005228.4(EGFR):c.2170G>A (p.Gly724Ser) http://identifiers.org/clinvar/376361 ^@ NM_002412.4(MGMT):c.66C>T (p.Arg22=) http://identifiers.org/clinvar/376362 ^@ NM_018890.3(RAC1):c.85C>T (p.Pro29Ser) http://identifiers.org/clinvar/376363 ^@ NM_001105.4(ACVR1):c.983G>T (p.Gly328Val) http://identifiers.org/clinvar/376364 ^@ NM_001105.4(ACVR1):c.773G>T (p.Arg258Met) http://identifiers.org/clinvar/376365 ^@ NM_004304.4(ALK):c.3824G>T (p.Arg1275Leu) http://identifiers.org/clinvar/376366 ^@ NM_001654.4(ARAF):c.641C>T (p.Ser214Phe) http://identifiers.org/clinvar/376367 ^@ NM_001654.4(ARAF):c.640T>G (p.Ser214Ala) http://identifiers.org/clinvar/376368 ^@ NM_004048.2(B2M):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/376369 ^@ NM_004048.2(B2M):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/376370 ^@ NM_004048.2(B2M):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/376371 ^@ NM_004048.2(B2M):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/376372 ^@ NM_004048.2(B2M):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/376373 ^@ NM_001282517.1(BCL2L12):c.52C>T (p.Arg18Trp) http://identifiers.org/clinvar/376374 ^@ NM_004333.4(BRAF):c.1786G>A (p.Gly596Ser) http://identifiers.org/clinvar/376375 ^@ NM_004333.4(BRAF):c.1787G>A (p.Gly596Asp) http://identifiers.org/clinvar/376376 ^@ NM_004333.4(BRAF):c.1742A>C (p.Asn581Thr) http://identifiers.org/clinvar/376377 ^@ NM_000075.3(CDK4):c.71G>T (p.Arg24Leu) http://identifiers.org/clinvar/376378 ^@ NM_000075.3(CDK4):c.70C>A (p.Arg24Ser) http://identifiers.org/clinvar/376379 ^@ NM_058195.3(CDKN2A):c.291A>G (p.Ala97=) http://identifiers.org/clinvar/376380 ^@ NM_058195.3(CDKN2A):c.290C>G (p.Ala97Gly) http://identifiers.org/clinvar/376381 ^@ NM_000077.4(CDKN2A):c.249C>G (p.His83Gln) http://identifiers.org/clinvar/376382 ^@ NM_058195.3(CDKN2A):c.383C>A (p.Ala128Asp) http://identifiers.org/clinvar/376383 ^@ NM_058195.3(CDKN2A):c.384C>A (p.Ala128=) http://identifiers.org/clinvar/376384 ^@ NM_000077.4(CDKN2A):c.150G>T (p.Gln50His) http://identifiers.org/clinvar/376385 ^@ NM_000077.4(CDKN2A):c.239G>A (p.Arg80Gln) http://identifiers.org/clinvar/376386 ^@ NM_004380.2(CREBBP):c.4337G>T (p.Arg1446Leu) http://identifiers.org/clinvar/376387 ^@ NM_004380.2(CREBBP):c.4337G>A (p.Arg1446His) http://identifiers.org/clinvar/376388 ^@ NM_004380.2(CREBBP):c.4336C>G (p.Arg1446Gly) http://identifiers.org/clinvar/376389 ^@ NM_001278625.1(CRNKL1):c.347C>T (p.Ser116Phe) http://identifiers.org/clinvar/376390 ^@ NM_001904.3(CTNNB1):c.101G>C (p.Gly34Ala) http://identifiers.org/clinvar/376391 ^@ NM_001904.3(CTNNB1):c.97T>C (p.Ser33Pro) http://identifiers.org/clinvar/376392 ^@ NM_001904.3(CTNNB1):c.97T>G (p.Ser33Ala) http://identifiers.org/clinvar/376393 ^@ NM_001904.3(CTNNB1):c.97T>A (p.Ser33Thr) http://identifiers.org/clinvar/376394 ^@ NM_001904.3(CTNNB1):c.122C>A (p.Thr41Asn) http://identifiers.org/clinvar/376395 ^@ NM_005228.4(EGFR):c.865G>A (p.Ala289Thr) http://identifiers.org/clinvar/376396 ^@ NM_005228.4(EGFR):c.866C>A (p.Ala289Asp) http://identifiers.org/clinvar/376397 ^@ NM_005228.4(EGFR):c.865_866delGCinsAA (p.Ala289Asn) http://identifiers.org/clinvar/376398 ^@ NM_005228.4(EGFR):c.865_866delGCinsAT (p.Ala289Ile) http://identifiers.org/clinvar/376399 ^@ NM_005228.4(EGFR):c.1793G>C (p.Gly598Ala) http://identifiers.org/clinvar/376400 ^@ NM_005228.4(EGFR):c.322A>G (p.Arg108Gly) http://identifiers.org/clinvar/376401 ^@ NM_001429.3(EP300):c.4195G>A (p.Asp1399Asn) http://identifiers.org/clinvar/376402 ^@ NM_001429.3(EP300):c.4195G>T (p.Asp1399Tyr) http://identifiers.org/clinvar/376403 ^@ NM_004448.3(ERBB2):c.2305G>A (p.Asp769Asn) http://identifiers.org/clinvar/376404 ^@ NM_004448.3(ERBB2):c.2263T>A (p.Leu755Met) http://identifiers.org/clinvar/376406 ^@ NM_001289936.1(ERBB2):c.2284G>A (p.Val762Met) http://identifiers.org/clinvar/376407 ^@ NM_001982.3(ERBB3):c.889G>T (p.Asp297Tyr) http://identifiers.org/clinvar/376408 ^@ NM_001982.3(ERBB3):c.890A>T (p.Asp297Val) http://identifiers.org/clinvar/376409 ^@ NM_001982.3(ERBB3):c.889G>A (p.Asp297Asn) http://identifiers.org/clinvar/376410 ^@ NM_001982.3(ERBB3):c.310G>A (p.Val104Met) http://identifiers.org/clinvar/376411 ^@ NM_001982.3(ERBB3):c.310G>T (p.Val104Leu) http://identifiers.org/clinvar/376412 ^@ NM_004456.4(EZH2):c.1922A>T (p.Glu641Val) http://identifiers.org/clinvar/376413 ^@ NM_004456.4(EZH2):c.1922A>C (p.Glu641Ala) http://identifiers.org/clinvar/376414 ^@ NM_033632.3(FBXW7):c.1393C>T (p.Arg465Cys) http://identifiers.org/clinvar/376415 ^@ NM_033632.3(FBXW7):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/376416 ^@ NM_033632.3(FBXW7):c.1394G>C (p.Arg465Pro) http://identifiers.org/clinvar/376417 ^@ NM_033632.3(FBXW7):c.1394G>T (p.Arg465Leu) http://identifiers.org/clinvar/376418 ^@ NM_033632.3(FBXW7):c.1393C>G (p.Arg465Gly) http://identifiers.org/clinvar/376419 ^@ NM_033632.3(FBXW7):c.1436G>A (p.Arg479Gln) http://identifiers.org/clinvar/376420 ^@ NM_033632.3(FBXW7):c.1436G>C (p.Arg479Pro) http://identifiers.org/clinvar/376421 ^@ NM_033632.3(FBXW7):c.1436G>T (p.Arg479Leu) http://identifiers.org/clinvar/376422 ^@ NM_033632.3(FBXW7):c.1435C>G (p.Arg479Gly) http://identifiers.org/clinvar/376423 ^@ NM_033632.3(FBXW7):c.1513C>G (p.Arg505Gly) http://identifiers.org/clinvar/376424 ^@ NM_033632.3(FBXW7):c.1514G>T (p.Arg505Leu) http://identifiers.org/clinvar/376425 ^@ NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) http://identifiers.org/clinvar/376426 ^@ NM_033632.3(FBXW7):c.1513C>A (p.Arg505Ser) http://identifiers.org/clinvar/376427 ^@ NM_033632.3(FBXW7):c.1973G>A (p.Arg658Gln) http://identifiers.org/clinvar/376428 ^@ NM_023110.2(FGFR1):c.1968G>C (p.Lys656Asn) http://identifiers.org/clinvar/376429 ^@ NM_023110.2(FGFR1):c.1636A>G (p.Asn546Asp) http://identifiers.org/clinvar/376430 ^@ NM_023110.2(FGFR1):c.1543A>G (p.Met515Val) http://identifiers.org/clinvar/376431 ^@ NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) http://identifiers.org/clinvar/376432 ^@ NM_022970.3(FGFR2):c.1148G>A (p.Cys383Tyr) http://identifiers.org/clinvar/376433 ^@ NM_000141.4(FGFR2):c.1642A>C (p.Ile548Leu) http://identifiers.org/clinvar/376434 ^@ NM_002107.4(H3F3A):c.100G>C (p.Gly34Arg) http://identifiers.org/clinvar/376435 ^@ NM_002107.4(H3F3A):c.83A>T (p.Lys28Met) http://identifiers.org/clinvar/376436 ^@ NM_003533.2(HIST1H3I):c.83A>T (p.Lys28Met) http://identifiers.org/clinvar/376437 ^@ NM_003533.2(HIST1H3I):c.82A>G (p.Lys28Glu) http://identifiers.org/clinvar/376438 ^@ NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp) http://identifiers.org/clinvar/376439 ^@ NM_001289910.1(IDH2):c.358A>G (p.Arg120Gly) http://identifiers.org/clinvar/376440 ^@ NM_000222.2(KIT):c.1926A>C (p.Lys642Asn) http://identifiers.org/clinvar/376441 ^@ NM_001142761.1(KNSTRN):c.71C>T (p.Ser24Phe) http://identifiers.org/clinvar/376442 ^@ NM_005343.3(HRAS):c.436G>C (p.Ala146Pro) http://identifiers.org/clinvar/376443 ^@ NM_005343.3(HRAS):c.38G>C (p.Gly13Ala) http://identifiers.org/clinvar/376444 ^@ NM_005343.3(HRAS):c.181C>G (p.Gln61Glu) http://identifiers.org/clinvar/376445 ^@ NM_002755.3(MAP2K1):c.159T>G (p.Phe53Leu) http://identifiers.org/clinvar/376446 ^@ NM_002755.3(MAP2K1):c.157T>G (p.Phe53Val) http://identifiers.org/clinvar/376447 ^@ NM_002755.3(MAP2K1):c.157T>A (p.Phe53Ile) http://identifiers.org/clinvar/376448 ^@ NM_002755.3(MAP2K1):c.170A>C (p.Lys57Thr) http://identifiers.org/clinvar/376449 ^@ NM_030662.3(MAP2K2):c.171T>G (p.Phe57Leu) http://identifiers.org/clinvar/376450 ^@ NM_002745.4(MAPK1):c.964G>A (p.Glu322Lys) http://identifiers.org/clinvar/376451 ^@ NM_005120.2(MED12):c.3670C>T (p.Leu1224Phe) http://identifiers.org/clinvar/376452 ^@ NM_005120.2(MED12):c.3670C>G (p.Leu1224Val) http://identifiers.org/clinvar/376453 ^@ NM_004958.3(MTOR):c.4448G>A (p.Cys1483Tyr) http://identifiers.org/clinvar/376454 ^@ NM_004958.3(MTOR):c.4449C>G (p.Cys1483Trp) http://identifiers.org/clinvar/376455 ^@ NM_004958.3(MTOR):c.7500T>G (p.Ile2500Met) http://identifiers.org/clinvar/376456 ^@ NM_004958.3(MTOR):c.7498A>T (p.Ile2500Phe) http://identifiers.org/clinvar/376457 ^@ NM_004958.3(MTOR):c.6643T>A (p.Ser2215Thr) http://identifiers.org/clinvar/376458 ^@ NM_002467.4(MYC):c.217A>C (p.Thr73Pro) http://identifiers.org/clinvar/376459 ^@ NM_002467.4(MYC):c.173C>T (p.Pro58Leu) http://identifiers.org/clinvar/376460 ^@ NM_005378.5(MYCN):c.131C>T (p.Pro44Leu) http://identifiers.org/clinvar/376461 ^@ NM_001313903.1(NFE2L2):c.85G>C (p.Asp29His) http://identifiers.org/clinvar/376462 ^@ NM_001145412.3(NFE2L2):c.37G>T (p.Asp13Tyr) http://identifiers.org/clinvar/376463 ^@ NM_001313903.1(NFE2L2):c.85G>A (p.Asp29Asn) http://identifiers.org/clinvar/376464 ^@ NM_001145412.3(NFE2L2):c.38A>G (p.Asp13Gly) http://identifiers.org/clinvar/376465 ^@ NM_001145413.3(NFE2L2):c.187G>C (p.Glu63Gln) http://identifiers.org/clinvar/376466 ^@ NM_001313904.1(NFE2L2):c.6G>A (p.Lys2=) http://identifiers.org/clinvar/376467 ^@ NM_001145413.3(NFE2L2):c.188A>T (p.Glu63Val) http://identifiers.org/clinvar/376468 ^@ NM_001313902.1(NFE2L2):c.237G>T (p.Glu79Asp) http://identifiers.org/clinvar/376469 ^@ NM_006218.3(PIK3CA):c.1258T>G (p.Cys420Gly) http://identifiers.org/clinvar/376470 ^@ NM_006218.3(PIK3CA):c.1357G>A (p.Glu453Lys) http://identifiers.org/clinvar/376471 ^@ NM_006218.3(PIK3CA):c.1357G>C (p.Glu453Gln) http://identifiers.org/clinvar/376472 ^@ NM_006218.3(PIK3CA):c.1359A>T (p.Glu453Asp) http://identifiers.org/clinvar/376473 ^@ NM_006218.3(PIK3CA):c.1625A>C (p.Glu542Ala) http://identifiers.org/clinvar/376474 ^@ NM_006218.3(PIK3CA):c.1625A>T (p.Glu542Val) http://identifiers.org/clinvar/376475 ^@ NM_006218.3(PIK3CA):c.1625A>G (p.Glu542Gly) http://identifiers.org/clinvar/376476 ^@ NM_006218.3(PIK3CA):c.2176G>A (p.Glu726Lys) http://identifiers.org/clinvar/376477 ^@ NM_006218.3(PIK3CA):c.2177A>C (p.Glu726Ala) http://identifiers.org/clinvar/376478 ^@ NM_006218.3(PIK3CA):c.241G>A (p.Glu81Lys) http://identifiers.org/clinvar/376479 ^@ NM_006218.3(PIK3CA):c.317G>T (p.Gly106Val) http://identifiers.org/clinvar/376480 ^@ NM_006218.3(PIK3CA):c.316G>C (p.Gly106Arg) http://identifiers.org/clinvar/376481 ^@ NM_006218.3(PIK3CA):c.3141T>G (p.His1047Gln) http://identifiers.org/clinvar/376482 ^@ NM_006218.3(PIK3CA):c.331A>G (p.Lys111Glu) http://identifiers.org/clinvar/376483 ^@ NM_006218.3(PIK3CA):c.333G>C (p.Lys111Asn) http://identifiers.org/clinvar/376484 ^@ NM_006218.3(PIK3CA):c.332A>G (p.Lys111Arg) http://identifiers.org/clinvar/376485 ^@ NM_006218.3(PIK3CA):c.3127A>G (p.Met1043Val) http://identifiers.org/clinvar/376486 ^@ NM_006218.3(PIK3CA):c.3128T>C (p.Met1043Thr) http://identifiers.org/clinvar/376487 ^@ NM_006218.3(PIK3CA):c.3127A>T (p.Met1043Leu) http://identifiers.org/clinvar/376488 ^@ NM_006218.3(PIK3CA):c.1034A>T (p.Asn345Ile) http://identifiers.org/clinvar/376489 ^@ NM_006218.3(PIK3CA):c.1034A>C (p.Asn345Thr) http://identifiers.org/clinvar/376490 ^@ NM_006218.3(PIK3CA):c.1033A>C (p.Asn345His) http://identifiers.org/clinvar/376491 ^@ NM_006218.3(PIK3CA):c.1638G>T (p.Gln546His) http://identifiers.org/clinvar/376492 ^@ NM_006218.3(PIK3CA):c.113G>A (p.Arg38His) http://identifiers.org/clinvar/376493 ^@ NM_006218.3(PIK3CA):c.112C>T (p.Arg38Cys) http://identifiers.org/clinvar/376494 ^@ NM_006218.3(PIK3CA):c.112C>A (p.Arg38Ser) http://identifiers.org/clinvar/376495 ^@ NM_006218.3(PIK3CA):c.113G>T (p.Arg38Leu) http://identifiers.org/clinvar/376496 ^@ NM_006218.3(PIK3CA):c.112C>G (p.Arg38Gly) http://identifiers.org/clinvar/376497 ^@ NM_006218.3(PIK3CA):c.1031T>G (p.Val344Gly) http://identifiers.org/clinvar/376498 ^@ NM_006218.3(PIK3CA):c.1030G>A (p.Val344Met) http://identifiers.org/clinvar/376499 ^@ NM_006218.3(PIK3CA):c.1031T>C (p.Val344Ala) http://identifiers.org/clinvar/376500 ^@ NM_006231.3(POLE):c.857C>G (p.Pro286Arg) http://identifiers.org/clinvar/376501 ^@ NM_006231.3(POLE):c.856C>T (p.Pro286Ser) http://identifiers.org/clinvar/376502 ^@ NM_006231.3(POLE):c.857C>A (p.Pro286His) http://identifiers.org/clinvar/376503 ^@ NM_006231.3(POLE):c.1231G>T (p.Val411Leu) http://identifiers.org/clinvar/376504 ^@ NM_014225.5(PPP2R1A):c.536C>G (p.Pro179Arg) http://identifiers.org/clinvar/376505 ^@ NM_014225.5(PPP2R1A):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/376506 ^@ NM_014225.5(PPP2R1A):c.548G>A (p.Arg183Gln) http://identifiers.org/clinvar/376507 ^@ NM_014225.5(PPP2R1A):c.547C>G (p.Arg183Gly) http://identifiers.org/clinvar/376508 ^@ NM_001123369.1(PPP6C):c.724C>T (p.Arg242Cys) http://identifiers.org/clinvar/376509 ^@ NM_000314.6(PTEN):c.389G>T (p.Arg130Leu) http://identifiers.org/clinvar/376510 ^@ NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) http://identifiers.org/clinvar/376511 ^@ NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) http://identifiers.org/clinvar/376512 ^@ NM_018890.3(RAC1):c.86C>T (p.Pro29Leu) http://identifiers.org/clinvar/376513 ^@ NM_018890.3(RAC1):c.85C>A (p.Pro29Thr) http://identifiers.org/clinvar/376514 ^@ NM_002880.3(RAF1):c.770C>G (p.Ser257Trp) http://identifiers.org/clinvar/376515 ^@ NM_005614.3(RHEB):c.103T>A (p.Tyr35Asn) http://identifiers.org/clinvar/376516 ^@ NM_005614.3(RHEB):c.104A>G (p.Tyr35Cys) http://identifiers.org/clinvar/376517 ^@ NM_001664.3(RHOA):c.118G>C (p.Glu40Gln) http://identifiers.org/clinvar/376518 ^@ NM_001664.3(RHOA):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/376519 ^@ NM_001664.3(RHOA):c.13C>T (p.Arg5Trp) http://identifiers.org/clinvar/376520 ^@ NM_001664.3(RHOA):c.14G>A (p.Arg5Gln) http://identifiers.org/clinvar/376521 ^@ NM_001664.3(RHOA):c.14G>T (p.Arg5Leu) http://identifiers.org/clinvar/376522 ^@ NM_001664.3(RHOA):c.125A>G (p.Tyr42Cys) http://identifiers.org/clinvar/376523 ^@ NM_001664.3(RHOA):c.125A>C (p.Tyr42Ser) http://identifiers.org/clinvar/376524 ^@ NM_001664.3(RHOA):c.125A>T (p.Tyr42Phe) http://identifiers.org/clinvar/376525 ^@ NM_001271634.1(CNOT9):c.391C>T (p.Pro131Ser) http://identifiers.org/clinvar/376526 ^@ NM_001271635.1(CNOT9):c.259T>C (p.Ser87Pro) http://identifiers.org/clinvar/376527 ^@ NM_001271634.1(CNOT9):c.260C>G (p.Ser87Cys) http://identifiers.org/clinvar/376528 ^@ NM_001291921.1(RXRA):c.989C>T (p.Ser330Phe) http://identifiers.org/clinvar/376529 ^@ NM_001291921.1(RXRA):c.989C>A (p.Ser330Tyr) http://identifiers.org/clinvar/376530 ^@ NM_012433.3(SF3B1):c.2225G>A (p.Gly742Asp) http://identifiers.org/clinvar/376531 ^@ NM_006842.2(SF3B2):c.1997A>C (p.His666Pro) http://identifiers.org/clinvar/376532 ^@ NM_012433.3(SF3B1):c.1996A>C (p.Lys666Gln) http://identifiers.org/clinvar/376533 ^@ NM_006842.2(SF3B2):c.2099A>G (p.Glu700Gly) http://identifiers.org/clinvar/376534 ^@ NM_012433.3(SF3B1):c.1874G>A (p.Arg625His) http://identifiers.org/clinvar/376535 ^@ NM_012433.3(SF3B1):c.1873C>T (p.Arg625Cys) http://identifiers.org/clinvar/376536 ^@ NM_012433.3(SF3B1):c.1873C>G (p.Arg625Gly) http://identifiers.org/clinvar/376537 ^@ NM_005359.5(SMAD4):c.1157G>T (p.Gly386Val) http://identifiers.org/clinvar/376538 ^@ NM_005359.5(SMAD4):c.1156G>A (p.Gly386Ser) http://identifiers.org/clinvar/376539 ^@ NM_005359.5(SMAD4):c.1156G>T (p.Gly386Cys) http://identifiers.org/clinvar/376540 ^@ NM_005359.5(SMAD4):c.1157G>C (p.Gly386Ala) http://identifiers.org/clinvar/376541 ^@ NM_005359.5(SMAD4):c.1082G>C (p.Arg361Pro) http://identifiers.org/clinvar/376542 ^@ NM_005633.3(SOS1):c.697A>T (p.Asn233Tyr) http://identifiers.org/clinvar/376543 ^@ NM_001007226.1(SPOP):c.304T>G (p.Phe102Val) http://identifiers.org/clinvar/376544 ^@ NM_001007226.1(SPOP):c.306C>G (p.Phe102Leu) http://identifiers.org/clinvar/376545 ^@ NM_001007226.1(SPOP):c.397T>G (p.Phe133Val) http://identifiers.org/clinvar/376546 ^@ NM_001007226.1(SPOP):c.398T>G (p.Phe133Cys) http://identifiers.org/clinvar/376547 ^@ NM_001007226.1(SPOP):c.398T>C (p.Phe133Ser) http://identifiers.org/clinvar/376548 ^@ NM_001007226.1(SPOP):c.397T>A (p.Phe133Ile) http://identifiers.org/clinvar/376549 ^@ NM_001007226.1(SPOP):c.391T>G (p.Trp131Gly) http://identifiers.org/clinvar/376550 ^@ NM_001007226.1(SPOP):c.392G>C (p.Trp131Ser) http://identifiers.org/clinvar/376551 ^@ NM_001007226.1(SPOP):c.391T>A (p.Trp131Arg) http://identifiers.org/clinvar/376552 ^@ NM_001007226.1(SPOP):c.393G>T (p.Trp131Cys) http://identifiers.org/clinvar/376553 ^@ NM_001007226.1(SPOP):c.260A>C (p.Tyr87Ser) http://identifiers.org/clinvar/376554 ^@ NM_001007226.1(SPOP):c.259T>A (p.Tyr87Asn) http://identifiers.org/clinvar/376555 ^@ NM_001007226.1(SPOP):c.260A>G (p.Tyr87Cys) http://identifiers.org/clinvar/376556 ^@ NM_005648.3(ELOC):c.236A>C (p.Tyr79Ser) http://identifiers.org/clinvar/376557 ^@ NM_001204857.1(ELOC):c.235T>A (p.Tyr79Asn) http://identifiers.org/clinvar/376558 ^@ NM_001204858.1(ELOC):c.236A>T (p.Tyr79Phe) http://identifiers.org/clinvar/376559 ^@ NM_001126113.2(TP53):c.404G>T (p.Cys135Phe) http://identifiers.org/clinvar/376560 ^@ NM_001126116.1(TP53):c.7T>C (p.Cys3Arg) http://identifiers.org/clinvar/376561 ^@ NM_001126117.1(TP53):c.9C>G (p.Cys3Trp) http://identifiers.org/clinvar/376562 ^@ NM_001126118.1(TP53):c.286T>A (p.Cys96Ser) http://identifiers.org/clinvar/376563 ^@ NM_001126113.2(TP53):c.403T>G (p.Cys135Gly) http://identifiers.org/clinvar/376564 ^@ NM_001126114.2(TP53):c.423C>G (p.Cys141Trp) http://identifiers.org/clinvar/376565 ^@ NM_001126113.2(TP53):c.421T>C (p.Cys141Arg) http://identifiers.org/clinvar/376566 ^@ NM_001126115.1(TP53):c.25T>G (p.Cys9Gly) http://identifiers.org/clinvar/376567 ^@ NM_000546.5(TP53):c.421T>A (p.Cys141Ser) http://identifiers.org/clinvar/376568 ^@ NM_001126114.2(TP53):c.422G>T (p.Cys141Phe) http://identifiers.org/clinvar/376569 ^@ NM_001126114.2(TP53):c.527G>T (p.Cys176Phe) http://identifiers.org/clinvar/376570 ^@ NM_001126117.1(TP53):c.130T>A (p.Cys44Ser) http://identifiers.org/clinvar/376571 ^@ NM_001126117.1(TP53):c.130T>G (p.Cys44Gly) http://identifiers.org/clinvar/376572 ^@ NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) http://identifiers.org/clinvar/376573 ^@ NM_001126117.1(TP53):c.130T>C (p.Cys44Arg) http://identifiers.org/clinvar/376574 ^@ NM_001126117.1(TP53):c.317G>T (p.Cys106Phe) http://identifiers.org/clinvar/376575 ^@ NM_000546.5(TP53):c.713G>C (p.Cys238Ser) http://identifiers.org/clinvar/376576 ^@ NM_001126117.1(TP53):c.316T>C (p.Cys106Arg) http://identifiers.org/clinvar/376577 ^@ NM_001126115.1(TP53):c.316T>G (p.Cys106Gly) http://identifiers.org/clinvar/376578 ^@ NM_001126113.2(TP53):c.725G>T (p.Cys242Phe) http://identifiers.org/clinvar/376579 ^@ NM_001126115.1(TP53):c.328T>A (p.Cys110Ser) http://identifiers.org/clinvar/376580 ^@ NM_001126116.1(TP53):c.330C>G (p.Cys110Trp) http://identifiers.org/clinvar/376581 ^@ NM_001126114.2(TP53):c.724T>G (p.Cys242Gly) http://identifiers.org/clinvar/376582 ^@ NM_001126117.1(TP53):c.428G>T (p.Cys143Phe) http://identifiers.org/clinvar/376583 ^@ NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) http://identifiers.org/clinvar/376584 ^@ NM_001126112.2(TP53):c.823T>C (p.Cys275Arg) http://identifiers.org/clinvar/376585 ^@ NM_001126116.1(TP53):c.445G>T (p.Asp149Tyr) http://identifiers.org/clinvar/376586 ^@ NM_001126116.1(TP53):c.445G>A (p.Asp149Asn) http://identifiers.org/clinvar/376587 ^@ NM_001126117.1(TP53):c.447C>G (p.Asp149Glu) http://identifiers.org/clinvar/376588 ^@ NM_001126115.1(TP53):c.445G>C (p.Asp149His) http://identifiers.org/clinvar/376589 ^@ NM_001126117.1(TP53):c.446A>C (p.Asp149Ala) http://identifiers.org/clinvar/376590 ^@ NM_001126113.2(TP53):c.857A>G (p.Glu286Gly) http://identifiers.org/clinvar/376591 ^@ NM_001126117.1(TP53):c.460G>C (p.Glu154Gln) http://identifiers.org/clinvar/376592 ^@ NM_001126117.1(TP53):c.461A>T (p.Glu154Val) http://identifiers.org/clinvar/376593 ^@ NM_000546.5(TP53):c.857A>C (p.Glu286Ala) http://identifiers.org/clinvar/376594 ^@ NM_001126116.1(TP53):c.413T>C (p.Phe138Ser) http://identifiers.org/clinvar/376595 ^@ NM_001126117.1(TP53):c.414T>G (p.Phe138Leu) http://identifiers.org/clinvar/376596 ^@ NM_001126113.2(TP53):c.808T>A (p.Phe270Ile) http://identifiers.org/clinvar/376597 ^@ NM_001126114.2(TP53):c.809T>G (p.Phe270Cys) http://identifiers.org/clinvar/376598 ^@ NM_001126115.1(TP53):c.412T>G (p.Phe138Val) http://identifiers.org/clinvar/376599 ^@ NM_001126113.2(TP53):c.730G>T (p.Gly244Cys) http://identifiers.org/clinvar/376600 ^@ NM_001126116.1(TP53):c.334G>A (p.Gly112Ser) http://identifiers.org/clinvar/376601 ^@ NM_001126118.1(TP53):c.614G>T (p.Gly205Val) http://identifiers.org/clinvar/376602 ^@ NM_001126115.1(TP53):c.334G>C (p.Gly112Arg) http://identifiers.org/clinvar/376603 ^@ NM_000546.5(TP53):c.734G>T (p.Gly245Val) http://identifiers.org/clinvar/376604 ^@ NM_001126116.1(TP53):c.337G>C (p.Gly113Arg) http://identifiers.org/clinvar/376605 ^@ NM_001126115.1(TP53):c.400G>C (p.Gly134Arg) http://identifiers.org/clinvar/376606 ^@ NM_001126113.2(TP53):c.536A>G (p.His179Arg) http://identifiers.org/clinvar/376607 ^@ NM_001126117.1(TP53):c.141T>G (p.His47Gln) http://identifiers.org/clinvar/376608 ^@ NM_001126118.1(TP53):c.419A>T (p.His140Leu) http://identifiers.org/clinvar/376609 ^@ NM_001126118.1(TP53):c.418C>A (p.His140Asn) http://identifiers.org/clinvar/376610 ^@ NM_001126118.1(TP53):c.418C>G (p.His140Asp) http://identifiers.org/clinvar/376611 ^@ NM_001126117.1(TP53):c.140A>C (p.His47Pro) http://identifiers.org/clinvar/376612 ^@ NM_001126115.1(TP53):c.182A>C (p.His61Pro) http://identifiers.org/clinvar/376613 ^@ NM_000546.5(TP53):c.577C>G (p.His193Asp) http://identifiers.org/clinvar/376614 ^@ NM_001126113.2(TP53):c.577C>A (p.His193Asn) http://identifiers.org/clinvar/376615 ^@ NM_001126118.1(TP53):c.524A>G (p.His175Arg) http://identifiers.org/clinvar/376616 ^@ NM_000546.5(TP53):c.641A>T (p.His214Leu) http://identifiers.org/clinvar/376617 ^@ NM_001126115.1(TP53):c.187A>T (p.Ile63Phe) http://identifiers.org/clinvar/376618 ^@ NM_001126118.1(TP53):c.467T>A (p.Ile156Asn) http://identifiers.org/clinvar/376619 ^@ NM_001126116.1(TP53):c.188T>G (p.Ile63Ser) http://identifiers.org/clinvar/376620 ^@ NM_001126116.1(TP53):c.189C>G (p.Ile63Met) http://identifiers.org/clinvar/376621 ^@ NM_001126114.2(TP53):c.763A>T (p.Ile255Phe) http://identifiers.org/clinvar/376622 ^@ NM_001126117.1(TP53):c.368T>G (p.Ile123Ser) http://identifiers.org/clinvar/376623 ^@ NM_001126113.2(TP53):c.764T>C (p.Ile255Thr) http://identifiers.org/clinvar/376624 ^@ NM_000546.5(TP53):c.396G>C (p.Lys132Asn) http://identifiers.org/clinvar/376625 ^@ NM_001126118.1(TP53):c.278A>G (p.Lys93Arg) http://identifiers.org/clinvar/376626 ^@ NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) http://identifiers.org/clinvar/376627 ^@ NM_001126112.2(TP53):c.395A>C (p.Lys132Thr) http://identifiers.org/clinvar/376628 ^@ NM_001126112.2(TP53):c.394A>C (p.Lys132Gln) http://identifiers.org/clinvar/376629 ^@ NM_000546.5(TP53):c.395A>T (p.Lys132Met) http://identifiers.org/clinvar/376630 ^@ NM_001126118.1(TP53):c.215T>C (p.Leu72Pro) http://identifiers.org/clinvar/376631 ^@ NM_001126112.2(TP53):c.332T>G (p.Leu111Arg) http://identifiers.org/clinvar/376632 ^@ NM_001126113.2(TP53):c.332T>A (p.Leu111Gln) http://identifiers.org/clinvar/376633 ^@ NM_000546.5(TP53):c.581T>G (p.Leu194Arg) http://identifiers.org/clinvar/376634 ^@ NM_001126113.2(TP53):c.581T>A (p.Leu194His) http://identifiers.org/clinvar/376635 ^@ NM_000546.5(TP53):c.581T>C (p.Leu194Pro) http://identifiers.org/clinvar/376636 ^@ NM_001126113.2(TP53):c.710T>A (p.Met237Lys) http://identifiers.org/clinvar/376637 ^@ NM_001126115.1(TP53):c.320A>G (p.Asn107Ser) http://identifiers.org/clinvar/376638 ^@ NM_001126114.2(TP53):c.716A>C (p.Asn239Thr) http://identifiers.org/clinvar/376639 ^@ NM_001126112.2(TP53):c.452C>A (p.Pro151His) http://identifiers.org/clinvar/376640 ^@ NM_001126115.1(TP53):c.56C>G (p.Pro19Arg) http://identifiers.org/clinvar/376641 ^@ NM_001126116.1(TP53):c.55C>G (p.Pro19Ala) http://identifiers.org/clinvar/376642 ^@ NM_001126115.1(TP53):c.436C>T (p.Pro146Ser) http://identifiers.org/clinvar/376643 ^@ NM_001126117.1(TP53):c.436C>A (p.Pro146Thr) http://identifiers.org/clinvar/376644 ^@ NM_001126114.2(TP53):c.833C>G (p.Pro278Arg) http://identifiers.org/clinvar/376645 ^@ NM_001126114.2(TP53):c.832C>G (p.Pro278Ala) http://identifiers.org/clinvar/376646 ^@ NM_000546.5(TP53):c.833C>A (p.Pro278His) http://identifiers.org/clinvar/376647 ^@ NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) http://identifiers.org/clinvar/376648 ^@ NM_001126118.1(TP53):c.315G>T (p.Gln105His) http://identifiers.org/clinvar/376649 ^@ NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) http://identifiers.org/clinvar/376650 ^@ NM_001126114.2(TP53):c.638G>T (p.Arg213Leu) http://identifiers.org/clinvar/376651 ^@ NM_001126112.2(TP53):c.637C>G (p.Arg213Gly) http://identifiers.org/clinvar/376652 ^@ NM_000546.5(TP53):c.742C>G (p.Arg248Gly) http://identifiers.org/clinvar/376653 ^@ NM_001126112.2(TP53):c.746G>T (p.Arg249Met) http://identifiers.org/clinvar/376654 ^@ NM_001126118.1(TP53):c.628A>G (p.Arg210Gly) http://identifiers.org/clinvar/376655 ^@ NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) http://identifiers.org/clinvar/376656 ^@ NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) http://identifiers.org/clinvar/376657 ^@ NM_000546.5(TP53):c.839G>A (p.Arg280Lys) http://identifiers.org/clinvar/376658 ^@ NM_001126113.2(TP53):c.838A>G (p.Arg280Gly) http://identifiers.org/clinvar/376659 ^@ NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) http://identifiers.org/clinvar/376660 ^@ NM_001126115.1(TP53):c.248G>T (p.Ser83Ile) http://identifiers.org/clinvar/376661 ^@ NM_001126117.1(TP53):c.249T>G (p.Ser83Arg) http://identifiers.org/clinvar/376662 ^@ NM_000546.5(TP53):c.644G>A (p.Ser215Asn) http://identifiers.org/clinvar/376663 ^@ NM_001126117.1(TP53):c.326C>A (p.Ser109Tyr) http://identifiers.org/clinvar/376664 ^@ NM_001126115.1(TP53):c.325T>C (p.Ser109Pro) http://identifiers.org/clinvar/376665 ^@ NM_001126114.2(TP53):c.721T>G (p.Ser241Ala) http://identifiers.org/clinvar/376666 ^@ NM_000546.5(TP53):c.373A>C (p.Thr125Pro) http://identifiers.org/clinvar/376667 ^@ NM_001126113.2(TP53):c.374C>G (p.Thr125Arg) http://identifiers.org/clinvar/376668 ^@ NM_000546.5(TP53):c.517G>T (p.Val173Leu) http://identifiers.org/clinvar/376669 ^@ NM_001126113.2(TP53):c.518T>A (p.Val173Glu) http://identifiers.org/clinvar/376670 ^@ NM_001126117.1(TP53):c.250G>T (p.Val84Leu) http://identifiers.org/clinvar/376671 ^@ NM_001126117.1(TP53):c.251T>G (p.Val84Gly) http://identifiers.org/clinvar/376672 ^@ NM_001126116.1(TP53):c.251T>A (p.Val84Glu) http://identifiers.org/clinvar/376673 ^@ NM_001126116.1(TP53):c.419T>A (p.Val140Glu) http://identifiers.org/clinvar/376674 ^@ NM_001126116.1(TP53):c.424G>T (p.Val142Phe) http://identifiers.org/clinvar/376675 ^@ NM_001126116.1(TP53):c.425T>A (p.Val142Asp) http://identifiers.org/clinvar/376676 ^@ NM_001126116.1(TP53):c.425T>G (p.Val142Gly) http://identifiers.org/clinvar/376677 ^@ NM_001126113.2(TP53):c.821T>C (p.Val274Ala) http://identifiers.org/clinvar/376678 ^@ NM_001126115.1(TP53):c.424G>C (p.Val142Leu) http://identifiers.org/clinvar/376679 ^@ NM_001126115.1(TP53):c.91T>A (p.Tyr31Asn) http://identifiers.org/clinvar/376680 ^@ NM_001126112.2(TP53):c.487T>C (p.Tyr163His) http://identifiers.org/clinvar/376681 ^@ NM_001126118.1(TP53):c.497A>G (p.Tyr166Cys) http://identifiers.org/clinvar/376682 ^@ NM_001126117.1(TP53):c.218A>T (p.Tyr73Phe) http://identifiers.org/clinvar/376683 ^@ NM_001126118.1(TP53):c.497A>C (p.Tyr166Ser) http://identifiers.org/clinvar/376684 ^@ NM_001126113.2(TP53):c.613T>A (p.Tyr205Asn) http://identifiers.org/clinvar/376685 ^@ NM_000546.5(TP53):c.613T>C (p.Tyr205His) http://identifiers.org/clinvar/376686 ^@ NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) http://identifiers.org/clinvar/376687 ^@ NM_000546.5(TP53):c.658T>C (p.Tyr220His) http://identifiers.org/clinvar/376688 ^@ NM_001126118.1(TP53):c.541T>A (p.Tyr181Asn) http://identifiers.org/clinvar/376689 ^@ NM_000546.5(TP53):c.658T>G (p.Tyr220Asp) http://identifiers.org/clinvar/376690 ^@ NM_001126114.2(TP53):c.701A>C (p.Tyr234Ser) http://identifiers.org/clinvar/376691 ^@ NM_001126113.2(TP53):c.700T>C (p.Tyr234His) http://identifiers.org/clinvar/376692 ^@ NM_000546.5(TP53):c.700T>A (p.Tyr234Asn) http://identifiers.org/clinvar/376693 ^@ NM_001126115.1(TP53):c.311A>G (p.Tyr104Cys) http://identifiers.org/clinvar/376694 ^@ NM_001126113.2(TP53):c.706T>A (p.Tyr236Asn) http://identifiers.org/clinvar/376695 ^@ NM_003400.3(XPO1):c.1711G>A (p.Glu571Lys) http://identifiers.org/clinvar/376696 ^@ NM_003400.3(XPO1):c.1712A>T (p.Glu571Val) http://identifiers.org/clinvar/376697 ^@ NM_003400.3(XPO1):c.1712A>C (p.Glu571Ala) http://identifiers.org/clinvar/376698 ^@ NM_001163213.1(FGFR3):c.1949A>T (p.Tyr650Phe) http://identifiers.org/clinvar/376699 ^@ NM_000142.4(FGFR3):c.1943A>C (p.Tyr648Ser) http://identifiers.org/clinvar/376700 ^@ NM_003318.4(TTK):c.2089G>T (p.Asp697Tyr) http://identifiers.org/clinvar/376701 ^@ NM_001281766.2(EPHA5):c.1748G>A (p.Gly583Glu) http://identifiers.org/clinvar/376702 ^@ NM_001289059.1(STK33):c.408T>G (p.Phe136Leu) http://identifiers.org/clinvar/376703 ^@ NM_005211.3(CSF1R):c.903G>T (p.Leu301Phe) http://identifiers.org/clinvar/376704 ^@ NM_005406.2(ROCK1):c.3577C>T (p.Pro1193Ser) http://identifiers.org/clinvar/376705 ^@ NM_004972.3(JAK2):c.2624C>A (p.Thr875Asn) http://identifiers.org/clinvar/376706 ^@ NM_004972.3(JAK2):c.1691G>T (p.Arg564Leu) http://identifiers.org/clinvar/376707 ^@ NM_178170.2(NEK8):c.589G>C (p.Ala197Pro) http://identifiers.org/clinvar/376708 ^@ NM_000455.4(STK11):c.647C>T (p.Ser216Phe) http://identifiers.org/clinvar/376709 ^@ NM_000455.4(STK11):c.368A>G (p.Gln123Arg) http://identifiers.org/clinvar/376710 ^@ NM_000455.4(STK11):c.487G>T (p.Gly163Cys) http://identifiers.org/clinvar/376711 ^@ NM_000455.4(STK11):c.1060T>C (p.Phe354Leu) http://identifiers.org/clinvar/376712 ^@ NM_004304.4(ALK):c.3733T>C (p.Phe1245Leu) http://identifiers.org/clinvar/376713 ^@ NM_004304.4(ALK):c.3497T>G (p.Met1166Arg) http://identifiers.org/clinvar/376714 ^@ NM_000215.3(JAK3):c.2143G>A (p.Val715Ile) http://identifiers.org/clinvar/376715 ^@ NM_004119.2(FLT3):c.1780T>C (p.Phe594Leu) http://identifiers.org/clinvar/376716 ^@ NM_004119.2(FLT3):c.1736T>C (p.Val579Ala) http://identifiers.org/clinvar/376717 ^@ NM_004119.2(FLT3):c.2507T>G (p.Ile836Ser) http://identifiers.org/clinvar/376718 ^@ NM_004119.2(FLT3):c.2523C>A (p.Asn841Lys) http://identifiers.org/clinvar/376719 ^@ NM_004119.2(FLT3):c.1772A>G (p.Tyr591Cys) http://identifiers.org/clinvar/376720 ^@ NM_004119.2(FLT3):c.2506A>G (p.Ile836Val) http://identifiers.org/clinvar/376721 ^@ NM_004119.2(FLT3):c.1775T>C (p.Val592Ala) http://identifiers.org/clinvar/376722 ^@ NM_004119.2(FLT3):c.2506A>T (p.Ile836Phe) http://identifiers.org/clinvar/376723 ^@ NM_004119.2(FLT3):c.2521A>C (p.Asn841His) http://identifiers.org/clinvar/376724 ^@ NM_004119.2(FLT3):c.1987A>C (p.Lys663Gln) http://identifiers.org/clinvar/376725 ^@ NM_000141.4(FGFR2):c.1972A>G (p.Lys658Glu) http://identifiers.org/clinvar/376726 ^@ NM_000141.4(FGFR2):c.1121A>G (p.Asp374Gly) http://identifiers.org/clinvar/376727 ^@ NM_000141.4(FGFR2):c.1974A>T (p.Lys658Asn) http://identifiers.org/clinvar/376728 ^@ NM_001127500.2(MET):c.3736G>C (p.Asp1246His) http://identifiers.org/clinvar/376729 ^@ NM_001127500.2(MET):c.3352A>T (p.Asn1118Tyr) http://identifiers.org/clinvar/376730 ^@ NM_000222.2(KIT):c.1672A>C (p.Lys558Gln) http://identifiers.org/clinvar/376731 ^@ NM_000222.2(KIT):c.1670G>C (p.Trp557Ser) http://identifiers.org/clinvar/376732 ^@ NM_000222.2(KIT):c.1669T>G (p.Trp557Gly) http://identifiers.org/clinvar/376733 ^@ NM_000222.2(KIT):c.1672A>G (p.Lys558Glu) http://identifiers.org/clinvar/376734 ^@ NM_000222.2(KIT):c.1671G>C (p.Trp557Cys) http://identifiers.org/clinvar/376735 ^@ NM_000222.2(KIT):c.1679_1680delTTinsAA (p.Val560Glu) http://identifiers.org/clinvar/376736 ^@ NM_000222.2(KIT):c.1670_1671delGGinsTT (p.Trp557Phe) http://identifiers.org/clinvar/376737 ^@ NM_213647.2(FGFR4):c.1100A>G (p.Tyr367Cys) http://identifiers.org/clinvar/376738 ^@ NM_000459.4(TEK):c.2228G>C (p.Gly743Ala) http://identifiers.org/clinvar/376739 ^@ NM_004442.7(EPHB2):c.2359G>A (p.Gly787Arg) http://identifiers.org/clinvar/376740 ^@ NM_005228.4(EGFR):c.2245G>C (p.Glu749Gln) http://identifiers.org/clinvar/376741 ^@ NM_000455.4(STK11):c.644G>A (p.Gly215Asp) http://identifiers.org/clinvar/376742 ^@ NM_000455.4(STK11):c.256C>G (p.Arg86Gly) http://identifiers.org/clinvar/376743 ^@ NM_000455.4(STK11):c.323A>G (p.Lys108Arg) http://identifiers.org/clinvar/376744 ^@ NM_000455.4(STK11):c.530T>A (p.Ile177Asn) http://identifiers.org/clinvar/376745 ^@ NM_000455.4(STK11):c.924G>C (p.Trp308Cys) http://identifiers.org/clinvar/376746 ^@ NM_007194.3(CHEK2):c.1183G>T (p.Val395Phe) http://identifiers.org/clinvar/376747 ^@ NM_007194.3(CHEK2):c.1040A>C (p.Asp347Ala) http://identifiers.org/clinvar/376748 ^@ NM_004119.2(FLT3):c.1771T>G (p.Tyr591Asp) http://identifiers.org/clinvar/376749 ^@ NM_000141.4(FGFR2):c.1570A>G (p.Thr524Ala) http://identifiers.org/clinvar/376750 ^@ NM_000141.4(FGFR2):c.1913A>C (p.Asn638Thr) http://identifiers.org/clinvar/376751 ^@ NM_000061.2(BTK):c.121G>A (p.Glu41Lys) http://identifiers.org/clinvar/376752 ^@ NC_000011.9:g.(?_31147306)_(31714853_?)del http://identifiers.org/clinvar/376753 ^@ NC_000011.9:g.(?_29750813)_(32752091_?)del http://identifiers.org/clinvar/376754 ^@ NC_000011.9:g.(?_31186493)_(31698208_?)del http://identifiers.org/clinvar/376755 ^@ NC_000011.9:g.(?_31820789)_(31824052_?)del http://identifiers.org/clinvar/376756 ^@ NC_000011.9:g.(?_31760458)_(31823847_?)del http://identifiers.org/clinvar/376757 ^@ NC_000011.9:g.(?_18536224)_(31923308_?)del http://identifiers.org/clinvar/376758 ^@ NC_000011.9:g.(?_31083877)_(31704548_?)del http://identifiers.org/clinvar/376759 ^@ NC_000011.9:g.(?_21586131)_(33168232_?)del http://identifiers.org/clinvar/376761 ^@ NM_001813.2(CENPE):c.6974C>G (p.Ser2325Cys) http://identifiers.org/clinvar/376762 ^@ NM_005334.2(HCFC1):c.5418G>A (p.Met1806Ile) http://identifiers.org/clinvar/376763 ^@ NM_004429.4(EFNB1):c.509C>T (p.Ala170Val) http://identifiers.org/clinvar/376764 ^@ NM_178014.3(TUBB):c.533C>G (p.Thr178Ser) http://identifiers.org/clinvar/376765 ^@ NM_000522.4(HOXA13):c.633G>T (p.Met211Ile) http://identifiers.org/clinvar/376766 ^@ NM_003907.2(EIF2B5):c.613G>A (p.Val205Met) http://identifiers.org/clinvar/376767 ^@ NM_005787.5(ALG3):c.1193C>T (p.Thr398Ile) http://identifiers.org/clinvar/376768 ^@ NM_201269.2(ZNF644):c.3295C>T (p.Arg1099Cys) http://identifiers.org/clinvar/376769 ^@ NM_014254.2(TMEM5):c.70G>C (p.Ala24Pro) http://identifiers.org/clinvar/376770 ^@ NM_033305.2(VPS13A):c.8209G>T (p.Glu2737Ter) http://identifiers.org/clinvar/376771 ^@ NM_004425.3(ECM1):c.1100A>T (p.Asp367Val) http://identifiers.org/clinvar/376772 ^@ NM_001267550.2(TTN):c.30512-11dupT http://identifiers.org/clinvar/376773 ^@ NM_001193466.1(KANSL1):c.1848G>T (p.Lys616Asn) http://identifiers.org/clinvar/376774 ^@ NM_001080414.3(CCDC88C):c.3895C>T (p.Arg1299Cys) http://identifiers.org/clinvar/376775 ^@ NM_000135.2(FANCA):c.3344A>G (p.Glu1115Gly) http://identifiers.org/clinvar/376776 ^@ NM_005334.2(HCFC1):c.3794C>T (p.Ser1265Leu) http://identifiers.org/clinvar/376777 ^@ NM_003611.2(OFD1):c.2060C>T (p.Pro687Leu) http://identifiers.org/clinvar/376778 ^@ NM_001178007.1(BBS12):c.1114_1115delTT (p.Phe372Terfs) http://identifiers.org/clinvar/376779 ^@ NM_001271.3(CHD2):c.4534C>T (p.Arg1512Trp) http://identifiers.org/clinvar/376780 ^@ NM_004963.3(GUCY2C):c.2318G>A (p.Arg773Gln) http://identifiers.org/clinvar/376781 ^@ NM_007180.2(TREH):c.1345T>C (p.Tyr449His) http://identifiers.org/clinvar/376782 ^@ NM_025114.3(CEP290):c.523C>A (p.Gln175Lys) http://identifiers.org/clinvar/376783 ^@ NM_001197104.1(KMT2A):c.11230C>T (p.Arg3744Ter) http://identifiers.org/clinvar/376784 ^@ NM_006495.3(EVI2B):c.157G>A (p.Gly53Arg) http://identifiers.org/clinvar/376785 ^@ NM_000055.3(BCHE):c.1685-8T>G http://identifiers.org/clinvar/376786 ^@ NM_003737.3(DCHS1):c.379G>A (p.Val127Ile) http://identifiers.org/clinvar/376787 ^@ NM_007327.3(GRIN1):c.2008C>A (p.Pro670Thr) http://identifiers.org/clinvar/376788 ^@ NM_170740.1(ALDH5A1):c.1513G>A (p.Val505Ile) http://identifiers.org/clinvar/376789 ^@ NM_183075.2(CYP2U1):c.629T>C (p.Met210Thr) http://identifiers.org/clinvar/376790 ^@ NM_015335.4(MED13L):c.2591T>A (p.Met864Lys) http://identifiers.org/clinvar/376791 ^@ NM_005559.3(LAMA1):c.2808+6A>G http://identifiers.org/clinvar/376792 ^@ NC_012920.1:m.5105T>C http://identifiers.org/clinvar/376793 ^@ NM_014804.2(KIAA0753):c.1756A>G (p.Lys586Glu) http://identifiers.org/clinvar/376794 ^@ NM_032043.2(BRIP1):c.409_410delAA (p.Lys137Valfs) http://identifiers.org/clinvar/376795 ^@ NM_001493.2(GDI1):c.46-11C>A http://identifiers.org/clinvar/376796 ^@ NM_001163673.1(WDR81):c.2093C>T (p.Ser698Leu) http://identifiers.org/clinvar/376797 ^@ NM_006514.3(SCN10A):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/376798 ^@ NM_000476.2(AK1):c.484G>A (p.Ala162Thr) http://identifiers.org/clinvar/376799 ^@ NM_000098.2(CPT2):c.1025T>C (p.Met342Thr) http://identifiers.org/clinvar/376800 ^@ NM_030653.3(DDX11):c.1156_1161delCAGGAC (p.Asp387_Gln388del) http://identifiers.org/clinvar/376801 ^@ NM_138422.3(ADAT3):c.604C>T (p.Arg202Trp) http://identifiers.org/clinvar/376802 ^@ NM_021098.2(CACNA1H):c.2759C>T (p.Thr920Met) http://identifiers.org/clinvar/376803 ^@ NM_005529.6(HSPG2):c.9719C>T (p.Ala3240Val) http://identifiers.org/clinvar/376804 ^@ NM_000834.3(GRIN2B):c.3993G>A (p.Met1331Ile) http://identifiers.org/clinvar/376805 ^@ NM_001346813.1(ARID1B):c.340_342dupCAG (p.Gln131_His132insGln) http://identifiers.org/clinvar/376806 ^@ NM_005360.4(MAF):c.559_561delCAC (p.His187del) http://identifiers.org/clinvar/376807 ^@ NM_017780.3(CHD7):c.2377-11dupT http://identifiers.org/clinvar/376808 ^@ NM_197947.2(CLEC7A):c.482C>T (p.Ser161Leu) http://identifiers.org/clinvar/376809 ^@ NM_005135.2(SLC12A6):c.1461T>G (p.Phe487Leu) http://identifiers.org/clinvar/376810 ^@ NM_006059.3(LAMC3):c.3805G>A (p.Gly1269Ser) http://identifiers.org/clinvar/376811 ^@ NM_032119.3(ADGRV1):c.13231+4G>C http://identifiers.org/clinvar/376812 ^@ NM_004992.3(MECP2):c.753_754insCC (p.Gly252Profs) http://identifiers.org/clinvar/376813 ^@ NM_003737.3(DCHS1):c.1103G>A (p.Ser368Asn) http://identifiers.org/clinvar/376814 ^@ NM_000168.5(GLI3):c.4431dupT (p.Glu1478Terfs) http://identifiers.org/clinvar/376815 ^@ NM_001172435.1(RAB3GAP1):c.2333G>A (p.Arg778Gln) http://identifiers.org/clinvar/376816 ^@ NM_001244810.1(FOXP1):c.1559A>G (p.His520Arg) http://identifiers.org/clinvar/376817 ^@ NM_003108.3(SOX11):c.428_429insCGGCGG (p.Gly148_Ser149insGlyGly) http://identifiers.org/clinvar/376818 ^@ NM_016401.3(HIKESHI):c.31-1G>T http://identifiers.org/clinvar/376819 ^@ NM_002977.3(SCN9A):c.2102C>T (p.Pro701Leu) http://identifiers.org/clinvar/376820 ^@ NM_014639.3(TTC37):c.358A>C (p.Lys120Gln) http://identifiers.org/clinvar/376821 ^@ NM_001148.4(ANK2):c.6325G>A (p.Glu2109Lys) http://identifiers.org/clinvar/376822 ^@ NM_031844.2(HNRNPU):c.628dupG (p.Ala210Glyfs) http://identifiers.org/clinvar/376823 ^@ NM_001277115.1(DNAH11):c.8335C>A (p.Leu2779Met) http://identifiers.org/clinvar/376824 ^@ NM_021098.2(CACNA1H):c.2540G>T (p.Cys847Phe) http://identifiers.org/clinvar/376825 ^@ NM_020754.3(ARHGAP31):c.1286C>T (p.Pro429Leu) http://identifiers.org/clinvar/376826 ^@ NM_013236.3(ATXN10):c.948dupT (p.Thr317Tyrfs) http://identifiers.org/clinvar/376827 ^@ NM_001271.3(CHD2):c.5245C>T (p.Pro1749Ser) http://identifiers.org/clinvar/376828 ^@ NM_017890.4(VPS13B):c.8504A>C (p.Gln2835Pro) http://identifiers.org/clinvar/376829 ^@ NM_004722.3(AP4M1):c.380C>T (p.Thr127Met) http://identifiers.org/clinvar/376830 ^@ NM_002055.4(GFAP):c.590T>A (p.Ile197Asn) http://identifiers.org/clinvar/376831 ^@ NM_153767.3(KCNJ1):c.180C>T (p.Tyr60=) http://identifiers.org/clinvar/376832 ^@ NM_000019.3(ACAT1):c.622C>T (p.Arg208Ter) http://identifiers.org/clinvar/376833 ^@ NM_006920.4(SCN1A):c.3855G>T (p.Leu1285Phe) http://identifiers.org/clinvar/376834 ^@ NC_012920.1:m.4472T>C http://identifiers.org/clinvar/376835 ^@ NM_182758.3(WDR72):c.1570-6dupT http://identifiers.org/clinvar/376836 ^@ NM_021957.3(GYS2):c.956A>T (p.Asp319Val) http://identifiers.org/clinvar/376837 ^@ NM_005199.4(CHRNG):c.125G>A (p.Arg42Gln) http://identifiers.org/clinvar/376838 ^@ NM_020812.3(DOCK6):c.434G>A (p.Arg145Gln) http://identifiers.org/clinvar/376839 ^@ NM_000170.2(GLDC):c.1750C>T (p.Pro584Ser) http://identifiers.org/clinvar/376840 ^@ NM_144988.3(ALG14):c.31G>A (p.Ala11Thr) http://identifiers.org/clinvar/376841 ^@ NM_005914.3(MCM4):c.5C>G (p.Ser2Trp) http://identifiers.org/clinvar/376842 ^@ NM_001136194.1(FASTKD2):c.149A>G (p.Lys50Arg) http://identifiers.org/clinvar/376843 ^@ NM_001197104.1(KMT2A):c.6521C>T (p.Thr2174Ile) http://identifiers.org/clinvar/376844 ^@ NM_004426.2(PHC1):c.1272_1277delGCAGCA (p.Gln438_Gln439del) http://identifiers.org/clinvar/376845 ^@ NM_001029835.2(CCM2):c.183delC (p.Pro62Leufs) http://identifiers.org/clinvar/376846 ^@ NM_020732.3(ARID1B):c.349_363delCAGCAGCAGCAGCAA (p.Gln127_Gln131del) http://identifiers.org/clinvar/376847 ^@ NM_001024630.3(RUNX2):c.254C>T (p.Ala85Val) http://identifiers.org/clinvar/376848 ^@ NM_003737.3(DCHS1):c.7519A>G (p.Thr2507Ala) http://identifiers.org/clinvar/376849 ^@ NM_004421.2(DVL1):c.605+6_605+7delTG http://identifiers.org/clinvar/376850 ^@ NM_001128159.2(VPS53):c.2062A>G (p.Ile688Val) http://identifiers.org/clinvar/376851 ^@ NM_004667.5(HERC2):c.2945A>G (p.His982Arg) http://identifiers.org/clinvar/376852 ^@ NM_001170961.1(IGSF1):c.1718-9T>G http://identifiers.org/clinvar/376853 ^@ NM_024809.4(TCTN2):c.810C>A (p.Asp270Glu) http://identifiers.org/clinvar/376854 ^@ NM_020473.3(PIGA):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/376855 ^@ NM_004380.2(CREBBP):c.3341delC (p.Pro1114Leufs) http://identifiers.org/clinvar/376856 ^@ NM_014165.3(NDUFAF4):c.40C>A (p.Leu14Ile) http://identifiers.org/clinvar/376857 ^@ NM_006939.3(SOS2):c.3235A>G (p.Thr1079Ala) http://identifiers.org/clinvar/376858 ^@ NM_001080510.4(METTL23):c.136G>C (p.Glu46Gln) http://identifiers.org/clinvar/376859 ^@ NC_012920.1:m.6674T>C http://identifiers.org/clinvar/376860 ^@ NM_003829.4(MPDZ):c.3582T>G (p.Ser1194Arg) http://identifiers.org/clinvar/376861 ^@ NM_004044.6(ATIC):c.1234G>A (p.Glu412Lys) http://identifiers.org/clinvar/376862 ^@ NM_006078.3(CACNG2):c.212-12C>A http://identifiers.org/clinvar/376863 ^@ NM_022042.3(SLC26A1):c.1115G>A (p.Arg372His) http://identifiers.org/clinvar/376864 ^@ NM_001197104.1(KMT2A):c.2981_2983delCTT (p.Ser997del) http://identifiers.org/clinvar/376865 ^@ NM_019105.6(TNXB):c.1101C>G (p.Asp367Glu) http://identifiers.org/clinvar/376866 ^@ NC_012920.1:m.10499A>G http://identifiers.org/clinvar/376867 ^@ NM_003688.3(CASK):c.1717A>T (p.Thr573Ser) http://identifiers.org/clinvar/376868 ^@ NM_023073.3(C5orf42):c.7616C>T (p.Ala2539Val) http://identifiers.org/clinvar/376869 ^@ NC_012920.1:m.8781C>A http://identifiers.org/clinvar/376870 ^@ NM_006015.4(ARID1A):c.472C>T (p.Pro158Ser) http://identifiers.org/clinvar/376871 ^@ NM_022168.3(IFIH1):c.933C>A (p.Tyr311Ter) http://identifiers.org/clinvar/376872 ^@ NM_002025.3(AFF2):c.926T>C (p.Ile309Thr) http://identifiers.org/clinvar/376873 ^@ NM_001010898.3(SLC6A17):c.2036A>G (p.Lys679Arg) http://identifiers.org/clinvar/376874 ^@ NM_000682.6(ADRA2B):c.276C>G (p.Asp92Glu) http://identifiers.org/clinvar/376875 ^@ NM_000276.3(OCRL):c.1095delC (p.His365Glnfs) http://identifiers.org/clinvar/376876 ^@ NC_012920.1:m.9091A>G http://identifiers.org/clinvar/376877 ^@ NM_020312.3(COQ9):c.841A>G (p.Met281Val) http://identifiers.org/clinvar/376878 ^@ NM_015335.4(MED13L):c.1283A>G (p.His428Arg) http://identifiers.org/clinvar/376879 ^@ NM_015072.4(TTLL5):c.2637A>C (p.Leu879Phe) http://identifiers.org/clinvar/376880 ^@ NM_032119.3(ADGRV1):c.17235T>G (p.Tyr5745Ter) http://identifiers.org/clinvar/376881 ^@ NM_173354.4(SIK1):c.2087C>T (p.Pro696Leu) http://identifiers.org/clinvar/376882 ^@ NC_012920.1:m.10632T>C http://identifiers.org/clinvar/376883 ^@ NM_001039141.2(TRIOBP):c.4062+2T>C http://identifiers.org/clinvar/376884 ^@ NM_004287.4(GOSR2):c.83A>C (p.Gln28Pro) http://identifiers.org/clinvar/376885 ^@ NM_001853.3(COL9A3):c.791C>T (p.Ala264Val) http://identifiers.org/clinvar/376886 ^@ NM_001142519.2(FAM111A):c.310T>A (p.Leu104Ile) http://identifiers.org/clinvar/376887 ^@ NM_016529.5(ATP8A2):c.2278G>A (p.Val760Met) http://identifiers.org/clinvar/376888 ^@ NM_001291303.1(FAT4):c.5275A>G (p.Ile1759Val) http://identifiers.org/clinvar/376889 ^@ NM_033026.5(PCLO):c.10837G>T (p.Ala3613Ser) http://identifiers.org/clinvar/376890 ^@ NM_018714.2(COG1):c.153G>A (p.Met51Ile) http://identifiers.org/clinvar/376891 ^@ NM_001130823.2(DNMT1):c.2914G>A (p.Val972Met) http://identifiers.org/clinvar/376892 ^@ NM_019844.3(SLCO1B3):c.11A>G (p.His4Arg) http://identifiers.org/clinvar/376893 ^@ NM_001134831.1(AHI1):c.2831A>G (p.Gln944Arg) http://identifiers.org/clinvar/376894 ^@ NM_017617.4(NOTCH1):c.263G>A (p.Ser88Asn) http://identifiers.org/clinvar/376895 ^@ NM_001243475.2(B9D1):c.400-1G>C http://identifiers.org/clinvar/376896 ^@ NM_182480.2(COQ6):c.412G>A (p.Val138Met) http://identifiers.org/clinvar/376897 ^@ NC_012920.1:m.7789G>A http://identifiers.org/clinvar/376898 ^@ NM_024735.4(FBXO31):c.1181G>A (p.Arg394Gln) http://identifiers.org/clinvar/376899 ^@ NM_003737.3(DCHS1):c.5938A>T (p.Thr1980Ser) http://identifiers.org/clinvar/376900 ^@ NM_004963.3(GUCY2C):c.628G>A (p.Glu210Lys) http://identifiers.org/clinvar/376901 ^@ NM_003482.3(KMT2D):c.10192A>C (p.Met3398Leu) http://identifiers.org/clinvar/376902 ^@ NM_016499.5(TMEM216):c.-149-15_-149-1delGTGCTCCTTTTTCAG http://identifiers.org/clinvar/376903 ^@ NM_000789.3(ACE):c.2881G>C (p.Ala961Pro) http://identifiers.org/clinvar/376904 ^@ NM_173602.2(DIP2B):c.998G>C (p.Cys333Ser) http://identifiers.org/clinvar/376905 ^@ NM_002547.2(OPHN1):c.1814C>T (p.Ser605Phe) http://identifiers.org/clinvar/376906 ^@ NM_003737.3(DCHS1):c.4555C>T (p.Pro1519Ser) http://identifiers.org/clinvar/376907 ^@ NM_001085372.2(UQCC3):c.226T>G (p.Trp76Gly) http://identifiers.org/clinvar/376908 ^@ NM_022095.3(ZNF335):c.2158C>T (p.Arg720Cys) http://identifiers.org/clinvar/376909 ^@ NM_014026.4(DCPS):c.677G>A (p.Gly226Asp) http://identifiers.org/clinvar/376910 ^@ NM_002065.6(GLUL):c.515G>C (p.Gly172Ala) http://identifiers.org/clinvar/376911 ^@ NM_001127178.2(PIGG):c.158C>A (p.Ala53Asp) http://identifiers.org/clinvar/376912 ^@ NM_015570.3(AUTS2):c.3374_3375insCCA (p.His1133_Pro1134insHis) http://identifiers.org/clinvar/376913 ^@ NM_024700.3(SNIP1):c.559C>T (p.Arg187Trp) http://identifiers.org/clinvar/376914 ^@ NM_001193466.1(KANSL1):c.1826G>A (p.Ser609Asn) http://identifiers.org/clinvar/376915 ^@ NM_005050.3(ABCD4):c.1736G>A (p.Arg579Gln) http://identifiers.org/clinvar/376916 ^@ NM_001001671.3(MAP3K15):c.3751C>G (p.Gln1251Glu) http://identifiers.org/clinvar/376917 ^@ NM_000018.3(ACADVL):c.364A>G (p.Asn122Asp) http://identifiers.org/clinvar/376918 ^@ NM_001278689.1(EOGT):c.783C>T (p.His261=) http://identifiers.org/clinvar/376919 ^@ NM_000355.3(TCN2):c.495_496delTC (p.Leu166Profs) http://identifiers.org/clinvar/376920 ^@ NM_001029882.3(AHDC1):c.1411G>A (p.Val471Met) http://identifiers.org/clinvar/376921 ^@ NM_138501.5(TECR):c.262G>T (p.Val88Leu) http://identifiers.org/clinvar/376922 ^@ NM_015158.3(KANK1):c.2479A>G (p.Ile827Val) http://identifiers.org/clinvar/376923 ^@ NM_012330.3(KAT6B):c.3907A>G (p.Ser1303Gly) http://identifiers.org/clinvar/376924 ^@ NM_001127178.2(PIGG):c.1967C>T (p.Ala656Val) http://identifiers.org/clinvar/376925 ^@ NM_001614.3(ACTG1):c.123+8G>A http://identifiers.org/clinvar/376926 ^@ NM_001312871.1(COX20):c.92G>A (p.Arg31Gln) http://identifiers.org/clinvar/376927 ^@ NM_000019.3(ACAT1):c.1199_1206delATGCCTTG (p.His400Glnfs) http://identifiers.org/clinvar/376928 ^@ NM_001242885.2(LOC100287036):c.293G>A (p.Ser98Asn) http://identifiers.org/clinvar/376929 ^@ NM_024105.3(ALG12):c.1425G>C (p.Gln475His) http://identifiers.org/clinvar/376930 ^@ NM_003737.3(DCHS1):c.8758G>A (p.Val2920Met) http://identifiers.org/clinvar/376931 ^@ NM_001283106.2(TANGO2):c.419G>A (p.Arg140Gln) http://identifiers.org/clinvar/376932 ^@ NM_012330.3(KAT6B):c.4077_4078insGAAGAGGAA (p.Glu1368_Gly1369insGluGluGlu) http://identifiers.org/clinvar/376933 ^@ NC_012920.1:m.8886G>A http://identifiers.org/clinvar/376934 ^@ NM_001145809.1(MYH14):c.407C>T (p.Thr136Met) http://identifiers.org/clinvar/376935 ^@ NM_001111285.2(IGF1):c.560C>A (p.Ala187Asp) http://identifiers.org/clinvar/376936 ^@ NM_001396.4(DYRK1A):c.208-13C>G http://identifiers.org/clinvar/376937 ^@ NM_000277.1(PAH):c.289A>C (p.Ile97Leu) http://identifiers.org/clinvar/376938 ^@ NM_003235.4(TG):c.7755-9T>G http://identifiers.org/clinvar/376939 ^@ NM_144612.6(LOXHD1):c.176C>T (p.Thr59Met) http://identifiers.org/clinvar/376940 ^@ NM_032504.1(UNC80):c.3256+3A>G http://identifiers.org/clinvar/376941 ^@ NM_014319.4(LEMD3):c.2007G>A (p.Met669Ile) http://identifiers.org/clinvar/376942 ^@ NM_015570.3(AUTS2):c.1774C>G (p.Pro592Ala) http://identifiers.org/clinvar/376943 ^@ NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) http://identifiers.org/clinvar/376944 ^@ NM_001256182.1(ANKRD11):c.6106G>A (p.Asp2036Asn) http://identifiers.org/clinvar/376945 ^@ NM_016111.3(TELO2):c.32C>A (p.Ala11Asp) http://identifiers.org/clinvar/376946 ^@ NM_002291.2(LAMB1):c.3124G>A (p.Gly1042Ser) http://identifiers.org/clinvar/376947 ^@ NM_015284.3(SZT2):c.616G>A (p.Asp206Asn) http://identifiers.org/clinvar/376948 ^@ NM_198691.2(KRTAP10-1):c.22G>A (p.Val8Ile) http://identifiers.org/clinvar/376949 ^@ NM_022817.2(PER2):c.3250T>C (p.Cys1084Arg) http://identifiers.org/clinvar/376950 ^@ NM_003042.3(SLC6A1):c.1732G>C (p.Val578Leu) http://identifiers.org/clinvar/376951 ^@ NM_001320591.1(ADD3):c.304T>C (p.Ser102Pro) http://identifiers.org/clinvar/376952 ^@ NM_020732.3(ARID1B):c.1041_1042insGCA (p.Ala350_Gly351insAla) http://identifiers.org/clinvar/376953 ^@ NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) http://identifiers.org/clinvar/376954 ^@ NM_017882.2(CLN6):c.682G>A (p.Gly228Ser) http://identifiers.org/clinvar/376955 ^@ NM_001127221.1(CACNA1A):c.6657_6659delCCA (p.His2220del) http://identifiers.org/clinvar/376956 ^@ NM_015570.3(AUTS2):c.3437G>T (p.Gly1146Val) http://identifiers.org/clinvar/376957 ^@ NM_001041.3(SI):c.598A>G (p.Ser200Gly) http://identifiers.org/clinvar/376958 ^@ NM_004092.3(ECHS1):c.7G>A (p.Ala3Thr) http://identifiers.org/clinvar/376959 ^@ NC_012920.1:m.15262T>C http://identifiers.org/clinvar/376960 ^@ NM_017721.4(CC2D1A):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/376961 ^@ NM_001256182.1(ANKRD11):c.7519C>A (p.Gln2507Lys) http://identifiers.org/clinvar/376962 ^@ NM_000355.3(TCN2):c.1099G>T (p.Gly367Ter) http://identifiers.org/clinvar/376963 ^@ NM_021074.4(NDUFV2):c.626A>G (p.Lys209Arg) http://identifiers.org/clinvar/376964 ^@ NC_012920.1:m.12175T>C http://identifiers.org/clinvar/376965 ^@ NM_182914.2(SYNE2):c.7762G>A (p.Val2588Met) http://identifiers.org/clinvar/376966 ^@ NM_001305424.1(FMN2):c.4135C>A (p.Leu1379Ile) http://identifiers.org/clinvar/376967 ^@ NM_014317.4(PDSS1):c.553G>A (p.Asp185Asn) http://identifiers.org/clinvar/376968 ^@ NM_033407.3(DOCK7):c.1285C>T (p.Arg429Ter) http://identifiers.org/clinvar/376969 ^@ NM_020812.3(DOCK6):c.1237C>G (p.Arg413Gly) http://identifiers.org/clinvar/376970 ^@ NM_001142415.1(AIMP1):c.358_362delGAAAA (p.Lys121Serfs) http://identifiers.org/clinvar/376971 ^@ NM_032444.2(SLX4):c.718A>G (p.Asn240Asp) http://identifiers.org/clinvar/376972 ^@ NM_015454.2(LARP7):c.1206dupA (p.Thr405Asnfs) http://identifiers.org/clinvar/376973 ^@ NM_018714.2(COG1):c.529A>G (p.Ile177Val) http://identifiers.org/clinvar/376974 ^@ NM_000135.2(FANCA):c.2859C>G (p.Asp953Glu) http://identifiers.org/clinvar/376975 ^@ NM_003119.3(SPG7):c.445G>A (p.Ala149Thr) http://identifiers.org/clinvar/376976 ^@ NM_003793.3(CTSF):c.1261C>T (p.Arg421Trp) http://identifiers.org/clinvar/376977 ^@ NM_000426.3(LAMA2):c.6195_6197delGAA (p.Lys2067del) http://identifiers.org/clinvar/376978 ^@ NM_004525.2(LRP2):c.4544C>T (p.Ala1515Val) http://identifiers.org/clinvar/376979 ^@ NM_004366.5(CLCN2):c.2415+6_2415+7insGG http://identifiers.org/clinvar/376980 ^@ NM_001080414.3(CCDC88C):c.590G>A (p.Arg197Gln) http://identifiers.org/clinvar/376981 ^@ NC_012920.1:m.8816A>G http://identifiers.org/clinvar/376982 ^@ NM_024678.5(NARS2):c.47C>T (p.Ser16Phe) http://identifiers.org/clinvar/376983 ^@ NC_012920.1:m.12153C>T http://identifiers.org/clinvar/376984 ^@ NM_001256182.1(ANKRD11):c.3977C>T (p.Thr1326Met) http://identifiers.org/clinvar/376985 ^@ NM_004667.5(HERC2):c.7058C>G (p.Thr2353Ser) http://identifiers.org/clinvar/376986 ^@ NM_207037.1(TCF12):c.1520T>G (p.Leu507Arg) http://identifiers.org/clinvar/376987 ^@ NM_001318245.1(MYO18B):c.1136G>A (p.Arg379Gln) http://identifiers.org/clinvar/376988 ^@ NM_032119.3(ADGRV1):c.13382A>G (p.His4461Arg) http://identifiers.org/clinvar/376989 ^@ NM_006766.4(KAT6A):c.3982A>G (p.Lys1328Glu) http://identifiers.org/clinvar/376990 ^@ NM_025137.3(SPG11):c.4923G>C (p.Lys1641Asn) http://identifiers.org/clinvar/376991 ^@ NM_002755.3(MAP2K1):c.694-13_694-12insTC http://identifiers.org/clinvar/376992 ^@ NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) http://identifiers.org/clinvar/376993 ^@ NM_025099.5(CTC1):c.1276C>T (p.Arg426Cys) http://identifiers.org/clinvar/376994 ^@ NM_001759.3(CCND2):c.785G>A (p.Arg262His) http://identifiers.org/clinvar/376995 ^@ NM_003165.3(STXBP1):c.1351G>A (p.Val451Ile) http://identifiers.org/clinvar/376996 ^@ NM_006059.3(LAMC3):c.236C>T (p.Ala79Val) http://identifiers.org/clinvar/376997 ^@ NM_032119.3(ADGRV1):c.4377C>T (p.Asp1459=) http://identifiers.org/clinvar/376998 ^@ NC_012920.1:m.14476G>A http://identifiers.org/clinvar/377000 ^@ NM_001244008.1(KIF1A):c.5087G>A (p.Arg1696His) http://identifiers.org/clinvar/377001 ^@ NM_024649.4(BBS1):c.1178G>A (p.Arg393Gln) http://identifiers.org/clinvar/377002 ^@ NM_183356.3(ASNS):c.728T>C (p.Val243Ala) http://identifiers.org/clinvar/377003 ^@ NM_001136194.1(FASTKD2):c.1435G>T (p.Val479Leu) http://identifiers.org/clinvar/377004 ^@ NM_020442.5(VARS2):c.2293G>A (p.Val765Met) http://identifiers.org/clinvar/377005 ^@ NM_020987.4(ANK3):c.6953A>G (p.Lys2318Arg) http://identifiers.org/clinvar/377006 ^@ NM_020810.3(TRMT5):c.535C>A (p.His179Asn) http://identifiers.org/clinvar/377007 ^@ NM_020442.5(VARS2):c.2500C>T (p.Arg834Cys) http://identifiers.org/clinvar/377008 ^@ NM_005236.2(ERCC4):c.753delT (p.Leu252Tyrfs) http://identifiers.org/clinvar/377009 ^@ NM_025137.3(SPG11):c.6319G>A (p.Val2107Ile) http://identifiers.org/clinvar/377010 ^@ NM_001163673.1(WDR81):c.1716+6G>C http://identifiers.org/clinvar/377011 ^@ NM_001163809.1(WDR81):c.1543C>T (p.Pro515Ser) http://identifiers.org/clinvar/377012 ^@ NM_019109.4(ALG1):c.835C>G (p.Leu279Val) http://identifiers.org/clinvar/377013 ^@ NM_000151.3(G6PC):c.376_377insTA (p.Tyr128Thrfs) http://identifiers.org/clinvar/377014 ^@ NM_001256235.1(PGAP2):c.583C>T (p.Arg195Cys) http://identifiers.org/clinvar/377015 ^@ NM_003108.3(SOX11):c.1032_1043delCAGCAGCAGCGG (p.Ser351_Ser354del) http://identifiers.org/clinvar/377016 ^@ NM_080817.4(GPR82):c.554G>A (p.Ser185Asn) http://identifiers.org/clinvar/377017 ^@ NM_002473.5(MYH9):c.122T>C (p.Phe41Ser) http://identifiers.org/clinvar/377018 ^@ NM_138694.3(PKHD1):c.9530T>C (p.Ile3177Thr) http://identifiers.org/clinvar/377019 ^@ NM_012330.3(KAT6B):c.839G>A (p.Arg280Lys) http://identifiers.org/clinvar/377020 ^@ NC_012920.1:m.9966G>A http://identifiers.org/clinvar/377021 ^@ NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) http://identifiers.org/clinvar/377022 ^@ NM_017429.2(BCO1):c.1622G>A (p.Cys541Tyr) http://identifiers.org/clinvar/377023 ^@ NM_001163809.1(WDR81):c.1877C>T (p.Pro626Leu) http://identifiers.org/clinvar/377024 ^@ NM_033419.4(PGAP3):c.32delT (p.Leu11Glnfs) http://identifiers.org/clinvar/377025 ^@ NM_017909.3(RMND1):c.668C>T (p.Pro223Leu) http://identifiers.org/clinvar/377026 ^@ NM_033507.1(GCK):c.174G>T (p.Met58Ile) http://identifiers.org/clinvar/377027 ^@ NM_001145642.4(RUBCN):c.2074C>T (p.Arg692Trp) http://identifiers.org/clinvar/377028 ^@ NM_001972.3(ELANE):c.170C>T (p.Ala57Val) http://identifiers.org/clinvar/377029 ^@ NC_012920.1:m.14133A>G http://identifiers.org/clinvar/377030 ^@ NM_006432.3(NPC2):c.292A>C (p.Asn98His) http://identifiers.org/clinvar/377031 ^@ NM_024678.5(NARS2):c.506T>A (p.Phe169Tyr) http://identifiers.org/clinvar/377032 ^@ NM_012310.4(KIF4A):c.1276G>T (p.Ala426Ser) http://identifiers.org/clinvar/377033 ^@ NM_020812.3(DOCK6):c.4205C>T (p.Thr1402Met) http://identifiers.org/clinvar/377034 ^@ NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) http://identifiers.org/clinvar/377035 ^@ NM_004273.4(CHST3):c.1052C>T (p.Ser351Phe) http://identifiers.org/clinvar/377036 ^@ NM_021912.4(GABRB3):c.136A>C (p.Lys46Gln) http://identifiers.org/clinvar/377037 ^@ NM_001040142.1(SCN2A):c.2044A>G (p.Lys682Glu) http://identifiers.org/clinvar/377038 ^@ NM_002538.3(OCLN):c.922G>A (p.Val308Met) http://identifiers.org/clinvar/377039 ^@ NM_000393.4(COL5A2):c.2086-13dupA http://identifiers.org/clinvar/377040 ^@ NM_032322.3(RNF135):c.900delC (p.Gln301Argfs) http://identifiers.org/clinvar/377041 ^@ NC_012920.1:m.15235A>G http://identifiers.org/clinvar/377042 ^@ NM_001127221.1(CACNA1A):c.6659_6661delATC (p.His2220del) http://identifiers.org/clinvar/377043 ^@ NM_000833.4(GRIN2A):c.421A>C (p.Thr141Pro) http://identifiers.org/clinvar/377044 ^@ NM_000276.3(OCRL):c.2695G>A (p.Glu899Lys) http://identifiers.org/clinvar/377045 ^@ NC_012920.1:m.8260T>C http://identifiers.org/clinvar/377046 ^@ NM_001271.3(CHD2):c.2999G>A (p.Arg1000Gln) http://identifiers.org/clinvar/377047 ^@ NM_030582.3(COL18A1):c.3883G>A (p.Ala1295Thr) http://identifiers.org/clinvar/377048 ^@ NM_022168.3(IFIH1):c.1879G>T (p.Glu627Ter) http://identifiers.org/clinvar/377049 ^@ NM_017819.3(TRMT10C):c.492G>C (p.Lys164Asn) http://identifiers.org/clinvar/377050 ^@ NM_001197104.1(KMT2A):c.10474G>A (p.Ala3492Thr) http://identifiers.org/clinvar/377051 ^@ NM_000833.4(GRIN2A):c.1895C>T (p.Ser632Phe) http://identifiers.org/clinvar/377052 ^@ NM_015488.4(PNKD):c.323A>G (p.His108Arg) http://identifiers.org/clinvar/377053 ^@ NM_032322.3(RNF135):c.389G>A (p.Ser130Asn) http://identifiers.org/clinvar/377054 ^@ NM_006766.4(KAT6A):c.3742G>A (p.Glu1248Lys) http://identifiers.org/clinvar/377055 ^@ NM_000458.3(HNF1B):c.1006C>A (p.His336Asn) http://identifiers.org/clinvar/377056 ^@ NM_001040716.1(PC):c.3429G>T (p.Met1143Ile) http://identifiers.org/clinvar/377057 ^@ NM_001142294.1(SPG20):c.1826T>C (p.Ile609Thr) http://identifiers.org/clinvar/377058 ^@ NM_194292.2(SASS6):c.1036G>T (p.Asp346Tyr) http://identifiers.org/clinvar/377059 ^@ NM_005670.3(EPM2A):c.736C>T (p.Pro246Ser) http://identifiers.org/clinvar/377060 ^@ NM_000257.3(MYH7):c.2191C>A (p.Pro731Thr) http://identifiers.org/clinvar/377061 ^@ NM_014804.2(KIAA0753):c.2768C>T (p.Pro923Leu) http://identifiers.org/clinvar/377062 ^@ NM_020760.3(HECW2):c.700A>G (p.Thr234Ala) http://identifiers.org/clinvar/377063 ^@ NM_002609.3(PDGFRB):c.1033C>T (p.Pro345Ser) http://identifiers.org/clinvar/377064 ^@ NM_015702.2(MMADHC):c.473G>A (p.Arg158Gln) http://identifiers.org/clinvar/377065 ^@ NM_003042.3(SLC6A1):c.1243C>A (p.Leu415Ile) http://identifiers.org/clinvar/377066 ^@ NM_173471.3(SLC25A26):c.798_804delGTTGGAA (p.Glu268Alafs) http://identifiers.org/clinvar/377067 ^@ NM_001080522.2(CC2D2A):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/377068 ^@ NM_019109.4(ALG1):c.1150G>C (p.Gly384Arg) http://identifiers.org/clinvar/377069 ^@ NM_001298.2(CNGA3):c.592G>A (p.Glu198Lys) http://identifiers.org/clinvar/377070 ^@ NM_178517.4(PIGW):c.705C>G (p.His235Gln) http://identifiers.org/clinvar/377071 ^@ NM_017721.4(CC2D1A):c.16_24delGGACCCCCG (p.Pro10_Gly12del) http://identifiers.org/clinvar/377072 ^@ NM_001277269.1(OTOG):c.1099C>T (p.Pro367Ser) http://identifiers.org/clinvar/377073 ^@ NM_005450.4(NOG):c.275G>A (p.Gly92Glu) http://identifiers.org/clinvar/377074 ^@ NM_173354.4(SIK1):c.274-3delT http://identifiers.org/clinvar/377075 ^@ NM_022095.3(ZNF335):c.3677A>G (p.Tyr1226Cys) http://identifiers.org/clinvar/377076 ^@ NM_024740.2(ALG9):c.1785T>C (p.Tyr595=) http://identifiers.org/clinvar/377077 ^@ NM_003829.4(MPDZ):c.1894C>T (p.Arg632Cys) http://identifiers.org/clinvar/377078 ^@ NM_015263.3(DMXL2):c.2707A>G (p.Asn903Asp) http://identifiers.org/clinvar/377079 ^@ NM_005257.5(GATA6):c.857G>A (p.Gly286Asp) http://identifiers.org/clinvar/377080 ^@ NM_001035.2(RYR2):c.6299G>A (p.Arg2100Gln) http://identifiers.org/clinvar/377081 ^@ NM_018833.2(TAP2):c.44T>C (p.Val15Ala) http://identifiers.org/clinvar/377082 ^@ NM_001044.4(SLC6A3):c.499C>T (p.Leu167Phe) http://identifiers.org/clinvar/377083 ^@ NM_014946.3(SPAST):c.1209delC (p.Phe404Leufs) http://identifiers.org/clinvar/377084 ^@ NM_002160.3(TNC):c.3707G>A (p.Arg1236His) http://identifiers.org/clinvar/377085 ^@ NM_019844.3(SLCO1B3):c.154A>G (p.Ile52Val) http://identifiers.org/clinvar/377086 ^@ NM_014271.3(IL1RAPL1):c.845A>G (p.Tyr282Cys) http://identifiers.org/clinvar/377087 ^@ NM_001288739.1(DNM1):c.2540C>T (p.Ser847Leu) http://identifiers.org/clinvar/377088 ^@ NM_001318245.1(MYO18B):c.7150C>T (p.Arg2384Trp) http://identifiers.org/clinvar/377089 ^@ NM_005120.2(MED12):c.4009G>A (p.Glu1337Lys) http://identifiers.org/clinvar/377090 ^@ NM_205768.2(ZBTB18):c.307A>T (p.Ile103Phe) http://identifiers.org/clinvar/377091 ^@ NC_012920.1:m.11590A>G http://identifiers.org/clinvar/377092 ^@ NM_001077525.2(MTMR14):c.727A>G (p.Thr243Ala) http://identifiers.org/clinvar/377093 ^@ NM_152743.3(BRAT1):c.962T>G (p.Leu321Arg) http://identifiers.org/clinvar/377094 ^@ NM_003159.2(CDKL5):c.2465G>A (p.Arg822His) http://identifiers.org/clinvar/377095 ^@ NM_006556.3(PMVK):c.287T>C (p.Val96Ala) http://identifiers.org/clinvar/377096 ^@ NM_000138.4(FBN1):c.1786T>G (p.Cys596Gly) http://identifiers.org/clinvar/377097 ^@ NM_022168.3(IFIH1):c.2020_2023delAGAT (p.Arg674Phefs) http://identifiers.org/clinvar/377098 ^@ NM_001042384.1(CEP63):c.668A>G (p.Asn223Ser) http://identifiers.org/clinvar/377099 ^@ NM_207037.1(TCF12):c.1487_1488insCT (p.Val498Leufs) http://identifiers.org/clinvar/377100 ^@ NM_003332.3(TYROBP):c.142A>G (p.Met48Val) http://identifiers.org/clinvar/377101 ^@ NM_182961.3(SYNE1):c.19899C>G (p.Tyr6633Ter) http://identifiers.org/clinvar/377102 ^@ NM_001134771.1(SLC12A5):c.353C>T (p.Pro118Leu) http://identifiers.org/clinvar/377103 ^@ NM_030773.3(TUBB1):c.1075C>T (p.Arg359Trp) http://identifiers.org/clinvar/377104 ^@ NM_001104577.1(SLC52A1):c.371C>T (p.Ala124Val) http://identifiers.org/clinvar/377105 ^@ NM_001110792.1(MECP2):c.1124A>C (p.Lys375Thr) http://identifiers.org/clinvar/377106 ^@ NM_032682.5(FOXP1):c.181-13T>G http://identifiers.org/clinvar/377107 ^@ NM_004171.3(SLC1A2):c.668C>A (p.Pro223Gln) http://identifiers.org/clinvar/377108 ^@ NM_006567.4(FARS2):c.973G>A (p.Asp325Asn) http://identifiers.org/clinvar/377109 ^@ NM_031206.4(LAS1L):c.1505G>C (p.Arg502Pro) http://identifiers.org/clinvar/377110 ^@ NM_000744.6(CHRNA4):c.254C>T (p.Thr85Met) http://identifiers.org/clinvar/377111 ^@ NM_018341.2(ERMARD):c.1162A>G (p.Asn388Asp) http://identifiers.org/clinvar/377112 ^@ NM_001080516.1(GRXCR2):c.220C>G (p.Gln74Glu) http://identifiers.org/clinvar/377113 ^@ NM_000192.3(TBX5):c.456delC (p.Val153Serfs) http://identifiers.org/clinvar/377114 ^@ NM_006904.6(PRKDC):c.2040A>G (p.Ile680Met) http://identifiers.org/clinvar/377115 ^@ NM_005559.3(LAMA1):c.5867A>G (p.Asn1956Ser) http://identifiers.org/clinvar/377116 ^@ NM_207361.5(FREM2):c.5810C>T (p.Ser1937Phe) http://identifiers.org/clinvar/377117 ^@ NM_181688.2(KRTAP10-10):c.302T>A (p.Val101Glu) http://identifiers.org/clinvar/377118 ^@ NM_001318245.1(MYO18B):c.7281G>T (p.Trp2427Cys) http://identifiers.org/clinvar/377119 ^@ NM_001184880.1(PCDH19):c.328A>G (p.Met110Val) http://identifiers.org/clinvar/377120 ^@ NM_203447.3(DOCK8):c.1528C>A (p.Leu510Met) http://identifiers.org/clinvar/377121 ^@ NM_001077197.1(PDE11A):c.1882A>G (p.Met628Val) http://identifiers.org/clinvar/377122 ^@ NM_017831.3(RNF125):c.92C>T (p.Pro31Leu) http://identifiers.org/clinvar/377123 ^@ NM_020732.3(ARID1B):c.101T>C (p.Leu34Pro) http://identifiers.org/clinvar/377124 ^@ NM_006766.4(KAT6A):c.3865_3867delGAG (p.Glu1289del) http://identifiers.org/clinvar/377125 ^@ NM_001256182.1(ANKRD11):c.6362C>T (p.Ala2121Val) http://identifiers.org/clinvar/377126 ^@ NM_153026.2(PRICKLE1):c.2037A>C (p.Arg679Ser) http://identifiers.org/clinvar/377127 ^@ NM_006939.3(SOS2):c.2317G>C (p.Asp773His) http://identifiers.org/clinvar/377128 ^@ NM_052874.4(STX1B):c.215A>G (p.Gln72Arg) http://identifiers.org/clinvar/377129 ^@ NM_007171.3(POMT1):c.2070-1_2071delGGT http://identifiers.org/clinvar/377130 ^@ NM_033407.3(DOCK7):c.2471T>C (p.Ile824Thr) http://identifiers.org/clinvar/377131 ^@ NM_139058.2(ARX):c.223T>G (p.Phe75Val) http://identifiers.org/clinvar/377132 ^@ NM_001077182.2(FSCN2):c.829G>A (p.Val277Ile) http://identifiers.org/clinvar/377133 ^@ NM_020806.4(GPHN):c.127G>T (p.Val43Leu) http://identifiers.org/clinvar/377134 ^@ NM_014363.5(SACS):c.5842G>A (p.Asp1948Asn) http://identifiers.org/clinvar/377135 ^@ NM_015120.4(ALMS1):c.824G>A (p.Ser275Asn) http://identifiers.org/clinvar/377136 ^@ NM_002977.3(SCN9A):c.4144G>A (p.Gly1382Arg) http://identifiers.org/clinvar/377137 ^@ NM_006947.3(SRP72):c.20G>C (p.Gly7Ala) http://identifiers.org/clinvar/377138 ^@ NM_001290253.1(DPP6):c.226G>A (p.Asp76Asn) http://identifiers.org/clinvar/377139 ^@ NM_173354.4(SIK1):c.1215G>A (p.Met405Ile) http://identifiers.org/clinvar/377140 ^@ NM_001008388.4(CISD2):c.224T>C (p.Ile75Thr) http://identifiers.org/clinvar/377141 ^@ NM_001204404.1(ANK3):c.2616A>G (p.Lys872=) http://identifiers.org/clinvar/377142 ^@ NM_021098.2(CACNA1H):c.2017C>T (p.Pro673Ser) http://identifiers.org/clinvar/377143 ^@ NM_001199563.1(BVES):c.731_734delTCTT (p.Phe244Cysfs) http://identifiers.org/clinvar/377144 ^@ NM_000720.3(CACNA1D):c.5826_5828delCTT (p.Phe1943del) http://identifiers.org/clinvar/377145 ^@ NM_001005360.2(DNM2):c.2575_2580delACCATT (p.Thr859_Ile860del) http://identifiers.org/clinvar/377146 ^@ NM_015215.3(CAMTA1):c.1955C>T (p.Ser652Leu) http://identifiers.org/clinvar/377147 ^@ NM_020964.2(EPG5):c.3991A>G (p.Ile1331Val) http://identifiers.org/clinvar/377148 ^@ NM_001172477.1(RRM2B):c.264+5G>T http://identifiers.org/clinvar/377149 ^@ NM_001363.4(DKC1):c.776A>C (p.His259Pro) http://identifiers.org/clinvar/377150 ^@ NM_006772.2(SYNGAP1):c.3824G>T (p.Arg1275Leu) http://identifiers.org/clinvar/377151 ^@ NM_001173454.1(PDHA1):c.124G>A (p.Gly42Ser) http://identifiers.org/clinvar/377152 ^@ NM_016327.2(UPB1):c.10G>A (p.Ala4Thr) http://identifiers.org/clinvar/377153 ^@ NM_020760.3(HECW2):c.4436G>A (p.Arg1479Gln) http://identifiers.org/clinvar/377154 ^@ NC_012920.1:m.15487A>G http://identifiers.org/clinvar/377155 ^@ NM_001039590.2(USP9X):c.6084C>T (p.Pro2028=) http://identifiers.org/clinvar/377156 ^@ NM_015120.4(ALMS1):c.7510G>T (p.Ala2504Ser) http://identifiers.org/clinvar/377157 ^@ NM_018263.5(ASXL2):c.4111C>A (p.Gln1371Lys) http://identifiers.org/clinvar/377158 ^@ NM_005559.3(LAMA1):c.4180C>T (p.Arg1394Cys) http://identifiers.org/clinvar/377159 ^@ NM_004321.7(KIF1A):c.4668C>A (p.Asp1556Glu) http://identifiers.org/clinvar/377160 ^@ NM_000456.2(SUOX):c.1306G>A (p.Glu436Lys) http://identifiers.org/clinvar/377161 ^@ NM_021147.4(CCNO):c.940G>A (p.Glu314Lys) http://identifiers.org/clinvar/377163 ^@ NM_024790.6(CSPP1):c.994G>A (p.Asp332Asn) http://identifiers.org/clinvar/377164 ^@ NM_017721.4(CC2D1A):c.2440G>T (p.Ala814Ser) http://identifiers.org/clinvar/377165 ^@ NM_005249.4(FOXG1):c.275C>T (p.Ala92Val) http://identifiers.org/clinvar/377166 ^@ NM_015937.5(PIGT):c.806C>T (p.Thr269Met) http://identifiers.org/clinvar/377167 ^@ NM_001267550.2(TTN):c.50048T>A (p.Ile16683Asn) http://identifiers.org/clinvar/377168 ^@ NM_006929.4(SKIV2L):c.970C>T (p.Arg324Trp) http://identifiers.org/clinvar/377169 ^@ NM_014191.3(SCN8A):c.4501C>A (p.Gln1501Lys) http://identifiers.org/clinvar/377170 ^@ NM_007180.2(TREH):c.419A>G (p.Lys140Arg) http://identifiers.org/clinvar/377171 ^@ NM_003482.3(KMT2D):c.3118T>C (p.Ser1040Pro) http://identifiers.org/clinvar/377172 ^@ NM_003235.4(TG):c.217G>A (p.Val73Met) http://identifiers.org/clinvar/377173 ^@ NM_024549.5(TCTN1):c.1483A>G (p.Ile495Val) http://identifiers.org/clinvar/377174 ^@ NM_000153.3(GALC):c.1355G>A (p.Gly452Asp) http://identifiers.org/clinvar/377175 ^@ NM_000052.6(ATP7A):c.2867G>A (p.Trp956Ter) http://identifiers.org/clinvar/377176 ^@ NM_020921.3(NIN):c.3635C>T (p.Ala1212Val) http://identifiers.org/clinvar/377177 ^@ NM_030787.3(CFHR5):c.832G>A (p.Gly278Ser) http://identifiers.org/clinvar/377178 ^@ NM_001128228.2(TPRN):c.1261C>T (p.Pro421Ser) http://identifiers.org/clinvar/377179 ^@ NM_001256182.1(ANKRD11):c.4235T>C (p.Ile1412Thr) http://identifiers.org/clinvar/377180 ^@ NM_002052.4(GATA4):c.1138G>A (p.Val380Met) http://identifiers.org/clinvar/377181 ^@ NM_004366.5(CLCN2):c.1981T>A (p.Ser661Thr) http://identifiers.org/clinvar/377182 ^@ NM_021098.2(CACNA1H):c.3744C>T (p.Asp1248=) http://identifiers.org/clinvar/377183 ^@ NM_201253.2(CRB1):c.3988delG (p.Glu1330Serfs) http://identifiers.org/clinvar/377184 ^@ NM_019892.5(INPP5E):c.279G>T (p.Arg93Ser) http://identifiers.org/clinvar/377185 ^@ NM_001127221.1(CACNA1A):c.2340_2341insCAAGTCCGTGTGGGAGCAGCGGACCAGT (p.Glu781Glnfs) http://identifiers.org/clinvar/377186 ^@ NM_015570.3(AUTS2):c.611A>G (p.Glu204Gly) http://identifiers.org/clinvar/377187 ^@ NM_001161563.2(TNIK):c.3542G>A (p.Gly1181Asp) http://identifiers.org/clinvar/377188 ^@ NM_001110556.1(FLNA):c.6705A>C (p.Glu2235Asp) http://identifiers.org/clinvar/377189 ^@ NM_016373.3(WWOX):c.713A>G (p.Tyr238Cys) http://identifiers.org/clinvar/377190 ^@ NM_153816.5(SNX14):c.1608+1G>C http://identifiers.org/clinvar/377191 ^@ NM_000048.3(ASL):c.1345G>A (p.Asp449Asn) http://identifiers.org/clinvar/377192 ^@ NM_000642.2(AGL):c.4430C>G (p.Thr1477Ser) http://identifiers.org/clinvar/377193 ^@ NM_001852.3(COL9A2):c.1114C>T (p.Pro372Ser) http://identifiers.org/clinvar/377194 ^@ NM_014629.3(ARHGEF10):c.3589C>T (p.His1197Tyr) http://identifiers.org/clinvar/377195 ^@ NC_012920.1:m.15777G>A http://identifiers.org/clinvar/377196 ^@ NM_015185.2(ARHGEF9):c.1127T>C (p.Ile376Thr) http://identifiers.org/clinvar/377197 ^@ NM_032581.3(FAM126A):c.302T>C (p.Ile101Thr) http://identifiers.org/clinvar/377198 ^@ NM_018109.3(MTPAP):c.227G>A (p.Arg76Gln) http://identifiers.org/clinvar/377199 ^@ NM_013417.3(IARS):c.1382_1383delGA (p.Arg461Ilefs) http://identifiers.org/clinvar/377200 ^@ NM_172250.2(MMAA):c.1142C>T (p.Thr381Ile) http://identifiers.org/clinvar/377201 ^@ NM_181688.2(KRTAP10-10):c.248A>C (p.Asp83Ala) http://identifiers.org/clinvar/377202 ^@ NM_003036.3(SKI):c.1505C>T (p.Pro502Leu) http://identifiers.org/clinvar/377203 ^@ NM_001127897.3(RPGRIP1L):c.3085G>T (p.Glu1029Ter) http://identifiers.org/clinvar/377204 ^@ NM_001256071.2(RNF213):c.1180A>G (p.Asn394Asp) http://identifiers.org/clinvar/377205 ^@ NM_001039350.2(DPP6):c.190_192delAAG (p.Lys66del) http://identifiers.org/clinvar/377206 ^@ NM_012102.3(RERE):c.1964C>T (p.Ala655Val) http://identifiers.org/clinvar/377207 ^@ NM_014336.4(AIPL1):c.112C>T (p.Arg38Cys) http://identifiers.org/clinvar/377208 ^@ NM_001040142.1(SCN2A):c.1598G>A (p.Arg533Lys) http://identifiers.org/clinvar/377209 ^@ NM_002860.3(ALDH18A1):c.1946A>G (p.Lys649Arg) http://identifiers.org/clinvar/377210 ^@ NM_015284.3(SZT2):c.4447G>A (p.Asp1483Asn) http://identifiers.org/clinvar/377211 ^@ NM_006059.3(LAMC3):c.38_39insGGCACCGCG (p.Ala17_Ala18insProArgAla) http://identifiers.org/clinvar/377212 ^@ NM_004667.5(HERC2):c.10274C>T (p.Pro3425Leu) http://identifiers.org/clinvar/377213 ^@ NM_006420.2(ARFGEF2):c.3169C>T (p.Gln1057Ter) http://identifiers.org/clinvar/377214 ^@ NM_003482.3(KMT2D):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/377215 ^@ NM_016343.3(CENPF):c.7352A>G (p.Asn2451Ser) http://identifiers.org/clinvar/377216 ^@ NM_002582.3(PARN):c.1513C>T (p.Arg505Trp) http://identifiers.org/clinvar/377217 ^@ NM_001271522.1(KCNMA1):c.437C>A (p.Pro146Gln) http://identifiers.org/clinvar/377218 ^@ NM_001305424.1(FMN2):c.2867C>G (p.Ala956Gly) http://identifiers.org/clinvar/377219 ^@ NM_000411.6(HLCS):c.1528G>A (p.Gly510Arg) http://identifiers.org/clinvar/377220 ^@ NM_000492.3(CFTR):c.1520_1522delTCT (p.Phe508del) http://identifiers.org/clinvar/377221 ^@ NM_004463.2(FGD1):c.910G>A (p.Gly304Arg) http://identifiers.org/clinvar/377222 ^@ NM_025114.3(CEP290):c.2484-4_2484-3insGTTTT http://identifiers.org/clinvar/377223 ^@ NM_173560.3(RFX6):c.1606A>G (p.Met536Val) http://identifiers.org/clinvar/377224 ^@ NM_006147.3(IRF6):c.1221_1230delTGGTGATTTC (p.Gly408Hisfs) http://identifiers.org/clinvar/377225 ^@ NM_004260.3(RECQL4):c.2574_2575insTGCACC (p.Thr858_Arg859insCysThr) http://identifiers.org/clinvar/377226 ^@ NM_016553.4(NUP62):c.560C>T (p.Thr187Met) http://identifiers.org/clinvar/377227 ^@ NM_023110.2(FGFR1):c.1468G>A (p.Gly490Arg) http://identifiers.org/clinvar/377228 ^@ NM_183356.3(ASNS):c.1192dupT (p.Tyr398Leufs) http://identifiers.org/clinvar/377229 ^@ NM_014080.4(DUOX2):c.512T>C (p.Leu171Pro) http://identifiers.org/clinvar/377230 ^@ NM_021098.2(CACNA1H):c.5113G>A (p.Ala1705Thr) http://identifiers.org/clinvar/377231 ^@ NM_014363.5(SACS):c.6512C>G (p.Ala2171Gly) http://identifiers.org/clinvar/377232 ^@ NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro) http://identifiers.org/clinvar/377233 ^@ NM_032382.4(COG8):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/377234 ^@ NM_001037633.1(SIL1):c.189T>G (p.Asp63Glu) http://identifiers.org/clinvar/377235 ^@ NM_007055.3(POLR3A):c.1745G>A (p.Arg582His) http://identifiers.org/clinvar/377236 ^@ NM_006059.3(LAMC3):c.2744G>A (p.Arg915Gln) http://identifiers.org/clinvar/377237 ^@ NM_022095.3(ZNF335):c.808C>T (p.Arg270Cys) http://identifiers.org/clinvar/377238 ^@ NM_003922.3(HERC1):c.3374G>A (p.Gly1125Asp) http://identifiers.org/clinvar/377239 ^@ NM_014324.5(AMACR):c.445C>A (p.Leu149Ile) http://identifiers.org/clinvar/377240 ^@ NM_014822.3(SEC24D):c.578C>T (p.Pro193Leu) http://identifiers.org/clinvar/377241 ^@ NM_004984.2(KIF5A):c.2971C>A (p.Gln991Lys) http://identifiers.org/clinvar/377242 ^@ NM_001244008.1(KIF1A):c.4771C>T (p.Arg1591Trp) http://identifiers.org/clinvar/377243 ^@ NM_007254.3(PNKP):c.730G>C (p.Gly244Arg) http://identifiers.org/clinvar/377244 ^@ NC_012920.1:m.13722A>G http://identifiers.org/clinvar/377245 ^@ NM_031483.6(ITCH):c.131A>G (p.Glu44Gly) http://identifiers.org/clinvar/377246 ^@ NM_032040.4(CCDC8):c.954T>G (p.Asn318Lys) http://identifiers.org/clinvar/377247 ^@ NM_001003927.2(EVI2A):c.596A>G (p.Gln199Arg) http://identifiers.org/clinvar/377248 ^@ NM_199074.1(NDUFAF3):c.17dupA (p.Tyr6Terfs) http://identifiers.org/clinvar/377249 ^@ NC_012920.1:m.3169C>T http://identifiers.org/clinvar/377250 ^@ NM_153006.2(NAGS):c.374C>A (p.Thr125Lys) http://identifiers.org/clinvar/377251 ^@ NM_014495.3(ANGPTL3):c.379C>T (p.Leu127Phe) http://identifiers.org/clinvar/377252 ^@ NM_002906.3(RDX):c.467+1G>A http://identifiers.org/clinvar/377253 ^@ NM_005559.3(LAMA1):c.2675A>G (p.Asp892Gly) http://identifiers.org/clinvar/377254 ^@ NM_030632.2(ASXL3):c.3350G>A (p.Arg1117Gln) http://identifiers.org/clinvar/377255 ^@ NM_001163809.1(WDR81):c.3115G>A (p.Ala1039Thr) http://identifiers.org/clinvar/377256 ^@ NM_007215.3(POLG2):c.694G>A (p.Gly232Ser) http://identifiers.org/clinvar/377257 ^@ NM_004092.3(ECHS1):c.518C>T (p.Ala173Val) http://identifiers.org/clinvar/377258 ^@ NM_001244189.1(KIAA0586):c.581T>C (p.Met194Thr) http://identifiers.org/clinvar/377259 ^@ NM_014795.3(ZEB2):c.388A>G (p.Ile130Val) http://identifiers.org/clinvar/377260 ^@ NC_012920.1:m.11428C>T http://identifiers.org/clinvar/377261 ^@ NM_001197104.1(KMT2A):c.7659dupA (p.Glu2554Argfs) http://identifiers.org/clinvar/377262 ^@ NM_173602.2(DIP2B):c.793G>A (p.Asp265Asn) http://identifiers.org/clinvar/377263 ^@ NM_006192.4(PAX1):c.1520C>T (p.Pro507Leu) http://identifiers.org/clinvar/377264 ^@ NM_001174146.1(LMX1B):c.285_289delCTTCC (p.Tyr95Terfs) http://identifiers.org/clinvar/377265 ^@ NM_001127221.1(CACNA1A):c.1785G>A (p.Lys595=) http://identifiers.org/clinvar/377266 ^@ NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) http://identifiers.org/clinvar/377267 ^@ NM_001349.3(DARS):c.671T>C (p.Ile224Thr) http://identifiers.org/clinvar/377268 ^@ NM_000637.3(GSR):c.334-5T>A http://identifiers.org/clinvar/377269 ^@ NM_138694.3(PKHD1):c.5912G>A (p.Gly1971Asp) http://identifiers.org/clinvar/377270 ^@ NM_198576.3(AGRN):c.44C>G (p.Pro15Arg) http://identifiers.org/clinvar/377271 ^@ NM_004341.4(CAD):c.6343G>C (p.Val2115Leu) http://identifiers.org/clinvar/377272 ^@ NM_133259.3(LRPPRC):c.1390G>C (p.Gly464Arg) http://identifiers.org/clinvar/377273 ^@ NM_001080414.3(CCDC88C):c.5951G>A (p.Arg1984Gln) http://identifiers.org/clinvar/377274 ^@ NM_004104.4(FASN):c.1468C>T (p.Arg490Cys) http://identifiers.org/clinvar/377275 ^@ NM_001130105.1(COL4A3BP):c.754G>C (p.Glu252Gln) http://identifiers.org/clinvar/377276 ^@ NM_000286.2(PEX12):c.368_370delTTC (p.Leu123del) http://identifiers.org/clinvar/377277 ^@ NM_198689.2(KRTAP10-7):c.46G>A (p.Gly16Ser) http://identifiers.org/clinvar/377278 ^@ NM_006015.4(ARID1A):c.5228C>T (p.Thr1743Met) http://identifiers.org/clinvar/377280 ^@ NM_000138.4(FBN1):c.3563C>A (p.Ser1188Ter) http://identifiers.org/clinvar/377281 ^@ NM_001029882.3(AHDC1):c.1510G>A (p.Val504Met) http://identifiers.org/clinvar/377282 ^@ NM_021008.3(DEAF1):c.1544G>A (p.Cys515Tyr) http://identifiers.org/clinvar/377283 ^@ NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) http://identifiers.org/clinvar/377284 ^@ NM_015454.2(LARP7):c.552+1G>T http://identifiers.org/clinvar/377285 ^@ NM_032504.1(UNC80):c.600+5G>A http://identifiers.org/clinvar/377286 ^@ NM_004456.4(EZH2):c.745G>A (p.Glu249Lys) http://identifiers.org/clinvar/377288 ^@ NM_001177701.2(IFT27):c.415C>T (p.Arg139Trp) http://identifiers.org/clinvar/377289 ^@ NM_000401.3(EXT2):c.2254T>G (p.Ter752Gly) http://identifiers.org/clinvar/377290 ^@ NM_005763.3(AASS):c.1678C>T (p.Pro560Ser) http://identifiers.org/clinvar/377291 ^@ NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) http://identifiers.org/clinvar/377292 ^@ NM_001320591.1(ADD3):c.2101_2103delAAG (p.Lys701del) http://identifiers.org/clinvar/377293 ^@ NM_003922.3(HERC1):c.11036G>A (p.Arg3679His) http://identifiers.org/clinvar/377294 ^@ NM_001145901.1(SARS2):c.394-11delA http://identifiers.org/clinvar/377295 ^@ NM_021098.2(CACNA1H):c.2455G>A (p.Glu819Lys) http://identifiers.org/clinvar/377296 ^@ NM_017909.3(RMND1):c.140G>A (p.Arg47His) http://identifiers.org/clinvar/377297 ^@ NM_000170.2(GLDC):c.2791G>A (p.Ala931Thr) http://identifiers.org/clinvar/377298 ^@ NM_006267.4(RANBP2):c.8407A>G (p.Ile2803Val) http://identifiers.org/clinvar/377299 ^@ NM_181688.2(KRTAP10-10):c.710G>A (p.Arg237His) http://identifiers.org/clinvar/377300 ^@ NM_001003787.2(STRADA):c.36+15A>G http://identifiers.org/clinvar/377301 ^@ NM_178517.4(PIGW):c.615_618delTGTT (p.Val206Glyfs) http://identifiers.org/clinvar/377302 ^@ NM_001146040.1(GLRA1):c.373G>A (p.Asp125Asn) http://identifiers.org/clinvar/377303 ^@ NM_181332.2(NLGN4X):c.897A>G (p.Ile299Met) http://identifiers.org/clinvar/377304 ^@ NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) http://identifiers.org/clinvar/377305 ^@ NM_000540.2(RYR1):c.13548G>C (p.Glu4516Asp) http://identifiers.org/clinvar/377306 ^@ NM_022114.3(PRDM16):c.826delG (p.Gly276Alafs) http://identifiers.org/clinvar/377307 ^@ NM_001190839.2(MGP):c.66G>C (p.Glu22Asp) http://identifiers.org/clinvar/377308 ^@ NM_182914.2(SYNE2):c.13336G>A (p.Gly4446Ser) http://identifiers.org/clinvar/377309 ^@ NC_012920.1:m.3498C>T http://identifiers.org/clinvar/377310 ^@ NM_004380.2(CREBBP):c.4520T>C (p.Leu1507Pro) http://identifiers.org/clinvar/377311 ^@ NM_001291303.1(FAT4):c.10810A>C (p.Ile3604Leu) http://identifiers.org/clinvar/377312 ^@ NM_000718.3(CACNA1B):c.6237C>T (p.Gly2079=) http://identifiers.org/clinvar/377313 ^@ NM_019105.6(TNXB):c.3221C>A (p.Thr1074Asn) http://identifiers.org/clinvar/377314 ^@ NM_005422.2(TECTA):c.5760C>A (p.Asn1920Lys) http://identifiers.org/clinvar/377315 ^@ NM_001040716.1(PC):c.1354G>A (p.Val452Ile) http://identifiers.org/clinvar/377316 ^@ NM_153240.4(NPHP3):c.1538T>C (p.Leu513Pro) http://identifiers.org/clinvar/377317 ^@ NM_174917.4(ACSF3):c.1292C>A (p.Ser431Tyr) http://identifiers.org/clinvar/377318 ^@ NM_000065.3(C6):c.542C>T (p.Thr181Ile) http://identifiers.org/clinvar/377319 ^@ NM_001256182.1(ANKRD11):c.6020C>T (p.Pro2007Leu) http://identifiers.org/clinvar/377320 ^@ NM_032374.4(APOPT1):c.62A>G (p.Lys21Arg) http://identifiers.org/clinvar/377321 ^@ NM_006267.4(RANBP2):c.1535C>T (p.Pro512Leu) http://identifiers.org/clinvar/377322 ^@ NM_001852.3(COL9A2):c.25C>G (p.Arg9Gly) http://identifiers.org/clinvar/377323 ^@ NM_001305424.1(FMN2):c.953C>T (p.Pro318Leu) http://identifiers.org/clinvar/377324 ^@ NM_199355.3(ADAMTS18):c.35C>G (p.Pro12Arg) http://identifiers.org/clinvar/377326 ^@ NM_005334.2(HCFC1):c.4159G>A (p.Val1387Met) http://identifiers.org/clinvar/377327 ^@ NC_012920.1:m.6299A>G http://identifiers.org/clinvar/377328 ^@ NM_030653.3(DDX11):c.1523T>G (p.Leu508Arg) http://identifiers.org/clinvar/377329 ^@ NM_198687.2(KRTAP10-4):c.355T>C (p.Cys119Arg) http://identifiers.org/clinvar/377330 ^@ NM_001005336.2(DNM1):c.358A>G (p.Ile120Val) http://identifiers.org/clinvar/377331 ^@ NM_004187.3(KDM5C):c.224T>C (p.Leu75Pro) http://identifiers.org/clinvar/377332 ^@ NM_013245.2(VPS4A):c.718_721delGAGA (p.Glu240Valfs) http://identifiers.org/clinvar/377333 ^@ NM_001204403.1(ANK3):c.1277C>T (p.Ser426Leu) http://identifiers.org/clinvar/377334 ^@ NM_014026.4(DCPS):c.791G>A (p.Arg264Gln) http://identifiers.org/clinvar/377335 ^@ NM_000273.2(GPR143):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/377336 ^@ NM_024120.4(NDUFAF5):c.264-11dupT http://identifiers.org/clinvar/377337 ^@ NM_001029882.3(AHDC1):c.286C>T (p.Arg96Cys) http://identifiers.org/clinvar/377338 ^@ NM_001123385.1(BCOR):c.2203A>G (p.Ile735Val) http://identifiers.org/clinvar/377339 ^@ NM_005050.3(ABCD4):c.1084G>A (p.Glu362Lys) http://identifiers.org/clinvar/377340 ^@ NC_012920.1:m.4132G>A http://identifiers.org/clinvar/377341 ^@ NM_014444.4(TUBGCP4):c.998G>A (p.Arg333His) http://identifiers.org/clinvar/377342 ^@ NM_001035.2(RYR2):c.1775G>T (p.Gly592Val) http://identifiers.org/clinvar/377343 ^@ NM_004715.4(CTDP1):c.1609G>A (p.Glu537Lys) http://identifiers.org/clinvar/377344 ^@ NM_005559.3(LAMA1):c.1909G>A (p.Val637Met) http://identifiers.org/clinvar/377345 ^@ NM_000836.2(GRIN2D):c.3321T>A (p.Asp1107Glu) http://identifiers.org/clinvar/377346 ^@ NM_001614.3(ACTG1):c.124-16G>A http://identifiers.org/clinvar/377347 ^@ NM_000892.4(KLKB1):c.606C>A (p.His202Gln) http://identifiers.org/clinvar/377348 ^@ NM_000666.2(ACY1):c.536A>G (p.Asn179Ser) http://identifiers.org/clinvar/377349 ^@ NM_030632.2(ASXL3):c.5002G>A (p.Val1668Met) http://identifiers.org/clinvar/377350 ^@ NM_015158.3(KANK1):c.149A>T (p.Asp50Val) http://identifiers.org/clinvar/377351 ^@ NM_001128849.1(SMARCA4):c.400G>T (p.Val134Phe) http://identifiers.org/clinvar/377352 ^@ NC_012920.1:m.8943C>T http://identifiers.org/clinvar/377353 ^@ NM_001136194.1(FASTKD2):c.356C>T (p.Ser119Phe) http://identifiers.org/clinvar/377354 ^@ NM_138694.3(PKHD1):c.2414C>T (p.Pro805Leu) http://identifiers.org/clinvar/377355 ^@ NM_000892.4(KLKB1):c.806C>G (p.Ser269Cys) http://identifiers.org/clinvar/377356 ^@ NM_032806.5(POMGNT2):c.1385G>T (p.Arg462Leu) http://identifiers.org/clinvar/377357 ^@ NM_001303.3(COX10):c.1027T>C (p.Cys343Arg) http://identifiers.org/clinvar/377358 ^@ NM_004944.3(DNASE1L3):c.217G>A (p.Glu73Lys) http://identifiers.org/clinvar/377359 ^@ NM_012102.3(RERE):c.50_51insGGACCG (p.Arg21_Glu22insAspArg) http://identifiers.org/clinvar/377360 ^@ NM_004667.5(HERC2):c.4009C>T (p.Leu1337Phe) http://identifiers.org/clinvar/377361 ^@ NM_001165974.1(UROC1):c.1466G>A (p.Arg489His) http://identifiers.org/clinvar/377362 ^@ NM_152743.3(BRAT1):c.2041G>A (p.Glu681Lys) http://identifiers.org/clinvar/377363 ^@ NM_001080414.3(CCDC88C):c.4618G>C (p.Gly1540Arg) http://identifiers.org/clinvar/377364 ^@ NM_000027.3(AGA):c.902T>C (p.Phe301Ser) http://identifiers.org/clinvar/377365 ^@ NM_001206999.1(CIT):c.1122dupC (p.Phe375Leufs) http://identifiers.org/clinvar/377366 ^@ NM_015506.2(MMACHC):c.395G>A (p.Arg132Gln) http://identifiers.org/clinvar/377367 ^@ NM_024790.6(CSPP1):c.3416G>A (p.Arg1139Gln) http://identifiers.org/clinvar/377368 ^@ NM_005378.5(MYCN):c.935G>A (p.Arg312Lys) http://identifiers.org/clinvar/377369 ^@ NC_012920.1:m.15848A>G http://identifiers.org/clinvar/377370 ^@ NM_022167.3(XYLT2):c.2312A>G (p.Asn771Ser) http://identifiers.org/clinvar/377371 ^@ NM_020455.5(ADGRG6):c.794G>C (p.Gly265Ala) http://identifiers.org/clinvar/377372 ^@ NM_080680.2(COL11A2):c.2295G>T (p.Arg765Ser) http://identifiers.org/clinvar/377373 ^@ NM_001305424.1(FMN2):c.778G>A (p.Ala260Thr) http://identifiers.org/clinvar/377374 ^@ NM_000266.3(NDP):c.385G>A (p.Glu129Lys) http://identifiers.org/clinvar/377375 ^@ NM_001001486.1(ATP2C1):c.1623G>C (p.Leu541Phe) http://identifiers.org/clinvar/377376 ^@ NM_000314.6(PTEN):c.254-1G>A http://identifiers.org/clinvar/377377 ^@ NM_198428.2(BBS9):c.1876_1879delAAAC (p.Lys626Argfs) http://identifiers.org/clinvar/377378 ^@ NM_001029882.3(AHDC1):c.212C>T (p.Thr71Ile) http://identifiers.org/clinvar/377379 ^@ NM_020964.2(EPG5):c.4444G>A (p.Val1482Met) http://identifiers.org/clinvar/377380 ^@ NM_005005.2(NDUFB9):c.477G>C (p.Lys159Asn) http://identifiers.org/clinvar/377385 ^@ NC_000013.10:g.32178877_33860144del1681268 http://identifiers.org/clinvar/377386 ^@ NM_000546.5(TP53):c.1044_1051delGGAACTCA (p.Glu349Glyfs) http://identifiers.org/clinvar/377387 ^@ NC_000010.10:g.85557432_105804295del20246864 http://identifiers.org/clinvar/377388 ^@ NM_012330.3(KAT6B):c.3544G>A (p.Glu1182Lys) http://identifiers.org/clinvar/377389 ^@ NM_003491.3(NAA10):c.583C>T (p.Arg195Cys) http://identifiers.org/clinvar/377390 ^@ NM_012309.4(SHANK2):c.451G>T (p.Asp151Tyr) http://identifiers.org/clinvar/377391 ^@ NM_001197104.1(KMT2A):c.2618G>A (p.Ser873Asn) http://identifiers.org/clinvar/377392 ^@ NM_012064.3(MIP):c.508dupC (p.Leu170Profs) http://identifiers.org/clinvar/377393 ^@ NM_003070.4(SMARCA2):c.2329C>G (p.Leu777Val) http://identifiers.org/clinvar/377394 ^@ NM_021007.2(SCN2A):c.3697G>T (p.Glu1233Ter) http://identifiers.org/clinvar/389399 ^@ NM_001918.3(DBT):c.1143C>G (p.Gly381=) http://identifiers.org/clinvar/391683 ^@ NM_001918.3(DBT):c.433+18A>G http://identifiers.org/clinvar/387476 ^@ NM_198576.3(AGRN):c.11G>C (p.Arg4Pro) http://identifiers.org/clinvar/392007 ^@ NM_001854.3(COL11A1):c.4802C>A (p.Thr1601Asn) http://identifiers.org/clinvar/391750 ^@ NM_001854.3(COL11A1):c.4141-8T>A http://identifiers.org/clinvar/388958 ^@ NM_198576.3(AGRN):c.49C>T (p.Leu17Phe) http://identifiers.org/clinvar/393244 ^@ NM_001854.3(COL11A1):c.4718C>T (p.Ser1573Leu) http://identifiers.org/clinvar/383021 ^@ NM_001918.3(DBT):c.252-13C>G http://identifiers.org/clinvar/383781 ^@ NM_001854.3(COL11A1):c.3600+8G>A http://identifiers.org/clinvar/390589 ^@ NM_001854.3(COL11A1):c.3384+18G>A http://identifiers.org/clinvar/381794 ^@ NM_001854.3(COL11A1):c.2197-10C>T http://identifiers.org/clinvar/386500 ^@ NM_001854.3(COL11A1):c.1245C>T (p.Ser415=) http://identifiers.org/clinvar/388611 ^@ NM_001854.3(COL11A1):c.4552A>C (p.Thr1518Pro) http://identifiers.org/clinvar/387931 ^@ NM_001854.3(COL11A1):c.4411G>A (p.Gly1471Ser) http://identifiers.org/clinvar/387478 ^@ NM_198576.3(AGRN):c.3255C>T (p.Leu1085=) http://identifiers.org/clinvar/387480 ^@ NM_198576.3(AGRN):c.4695G>C (p.Gln1565His) http://identifiers.org/clinvar/382691 ^@ NM_001854.3(COL11A1):c.4526A>C (p.Gln1509Pro) http://identifiers.org/clinvar/388957 ^@ NM_198576.3(AGRN):c.5615G>A (p.Arg1872Gln) http://identifiers.org/clinvar/391051 ^@ NM_001854.3(COL11A1):c.4033-10C>T http://identifiers.org/clinvar/392656 ^@ NM_001854.3(COL11A1):c.1488G>A (p.Pro496=) http://identifiers.org/clinvar/380458 ^@ NM_001854.3(COL11A1):c.3925-11C>T http://identifiers.org/clinvar/388217 ^@ NM_006594.4(AP4B1):c.-66C>G http://identifiers.org/clinvar/380767 ^@ NM_006594.4(AP4B1):c.-78C>T http://identifiers.org/clinvar/378278 ^@ NM_002524.4(NRAS):c.450+18G>T http://identifiers.org/clinvar/383150 ^@ NM_002524.4(NRAS):c.87A>G (p.Val29=) http://identifiers.org/clinvar/390131 ^@ NM_001854.3(COL11A1):c.4859-19A>G http://identifiers.org/clinvar/390573 ^@ NM_001854.3(COL11A1):c.4032+18T>C http://identifiers.org/clinvar/385500 ^@ NM_002506.2(NGF):c.393C>T (p.Gly131=) http://identifiers.org/clinvar/386343 ^@ NM_001232.3(CASQ2):c.621A>G (p.Leu207=) http://identifiers.org/clinvar/392911 ^@ NM_001854.3(COL11A1):c.3868G>T (p.Ala1290Ser) http://identifiers.org/clinvar/379418 ^@ NM_001854.3(COL11A1):c.3925-16C>T http://identifiers.org/clinvar/391629 ^@ NM_001542.3(IGSF3):c.1807C>T (p.Arg603Trp) http://identifiers.org/clinvar/392525 ^@ NM_001854.3(COL11A1):c.1201T>A (p.Phe401Ile) http://identifiers.org/clinvar/388416 ^@ NM_015074.3(KIF1B):c.2248G>A (p.Asp750Asn) http://identifiers.org/clinvar/390111 ^@ NM_198576.3(AGRN):c.1906G>A (p.Gly636Ser) http://identifiers.org/clinvar/390809 ^@ NM_198576.3(AGRN):c.2650C>T (p.Arg884Cys) http://identifiers.org/clinvar/390640 ^@ NM_000302.3(PLOD1):c.643+15C>T http://identifiers.org/clinvar/390574 ^@ NM_000302.3(PLOD1):c.1164C>T (p.Thr388=) http://identifiers.org/clinvar/389927 ^@ NM_198576.3(AGRN):c.4120G>T (p.Val1374Leu) http://identifiers.org/clinvar/391809 ^@ NM_001854.3(COL11A1):c.3816+5G>A http://identifiers.org/clinvar/378360 ^@ NM_006623.3(PHGDH):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/391634 ^@ NM_001854.3(COL11A1):c.1899+16T>G http://identifiers.org/clinvar/392687 ^@ NM_198576.3(AGRN):c.4131C>T (p.Phe1377=) http://identifiers.org/clinvar/387479 ^@ NM_198576.3(AGRN):c.4298+17C>T http://identifiers.org/clinvar/392182 ^@ NM_005518.3(HMGCS2):c.35T>C (p.Leu12Pro) http://identifiers.org/clinvar/379548 ^@ NM_014874.3(MFN2):c.-150+20G>A http://identifiers.org/clinvar/392239 ^@ NM_001854.3(COL11A1):c.1155A>C (p.Glu385Asp) http://identifiers.org/clinvar/387477 ^@ NM_198576.3(AGRN):c.2371+12A>G http://identifiers.org/clinvar/390716 ^@ NM_001854.3(COL11A1):c.652-17T>G http://identifiers.org/clinvar/389918 ^@ NM_198576.3(AGRN):c.2499T>C (p.Phe833=) http://identifiers.org/clinvar/390606 ^@ NM_001257360.1(AMPD2):c.170C>T (p.Ser57Phe) http://identifiers.org/clinvar/390522 ^@ NM_198576.3(AGRN):c.3819C>T (p.Ala1273=) http://identifiers.org/clinvar/390523 ^@ NM_198576.3(AGRN):c.5643G>A (p.Val1881=) http://identifiers.org/clinvar/391355 ^@ NM_004958.3(MTOR):c.5911G>A (p.Ala1971Thr) http://identifiers.org/clinvar/386374 ^@ NM_004980.4(KCND3):c.1519-4G>T http://identifiers.org/clinvar/382039 ^@ NM_014874.3(MFN2):c.312-19A>G http://identifiers.org/clinvar/387869 ^@ NM_198576.3(AGRN):c.2501G>A (p.Arg834Gln) http://identifiers.org/clinvar/380951 ^@ NM_004980.4(KCND3):c.375G>A (p.Pro125=) http://identifiers.org/clinvar/390620 ^@ NM_006594.4(AP4B1):c.647C>G (p.Ala216Gly) http://identifiers.org/clinvar/387915 ^@ NM_014874.3(MFN2):c.1113G>A (p.Ala371=) http://identifiers.org/clinvar/390698 ^@ NM_014874.3(MFN2):c.1968C>G (p.Ala656=) http://identifiers.org/clinvar/390183 ^@ NM_198576.3(AGRN):c.3697C>T (p.Arg1233Trp) http://identifiers.org/clinvar/378135 ^@ NM_014874.3(MFN2):c.2157G>A (p.Lys719=) http://identifiers.org/clinvar/393216 ^@ NM_006594.4(AP4B1):c.230C>T (p.Pro77Leu) http://identifiers.org/clinvar/385926 ^@ NM_198576.3(AGRN):c.6019A>G (p.Lys2007Glu) http://identifiers.org/clinvar/391747 ^@ NM_013296.4(GPSM2):c.172C>T (p.Leu58=) http://identifiers.org/clinvar/378136 ^@ NM_014874.3(MFN2):c.*15G>A http://identifiers.org/clinvar/382922 ^@ NM_013296.4(GPSM2):c.-248-16T>C http://identifiers.org/clinvar/388629 ^@ NM_000036.2(AMPD1):c.1724C>T (p.Thr575Ile) http://identifiers.org/clinvar/381903 ^@ NM_002524.4(NRAS):c.*43+20G>A http://identifiers.org/clinvar/386577 ^@ NM_013296.4(GPSM2):c.*7T>C http://identifiers.org/clinvar/392819 ^@ NM_004974.3(KCNA2):c.*1245G>A http://identifiers.org/clinvar/384392 ^@ NM_013296.4(GPSM2):c.993A>T (p.Ala331=) http://identifiers.org/clinvar/393168 ^@ NM_001257360.1(AMPD2):c.1681C>T (p.His561Tyr) http://identifiers.org/clinvar/386485 ^@ NM_080605.3(B3GALT6):c.31C>T (p.Arg11Trp) http://identifiers.org/clinvar/390636 ^@ NM_080605.3(B3GALT6):c.457C>A (p.Leu153Ile) http://identifiers.org/clinvar/391346 ^@ NM_004958.3(MTOR):c.7292T>C (p.Leu2431Pro) http://identifiers.org/clinvar/390269 ^@ NM_004974.3(KCNA2):c.989T>G (p.Leu330Arg) http://identifiers.org/clinvar/380311 ^@ NM_004958.3(MTOR):c.5553C>T (p.Ser1851=) http://identifiers.org/clinvar/380568 ^@ NM_025150.4(TARS2):c.81C>T (p.Thr27=) http://identifiers.org/clinvar/378279 ^@ NM_002524.4(NRAS):c.*5A>G http://identifiers.org/clinvar/393083 ^@ NM_004980.4(KCND3):c.1256G>A (p.Arg419His) http://identifiers.org/clinvar/378904 ^@ NM_002524.4(NRAS):c.-16T>C http://identifiers.org/clinvar/389371 ^@ NM_025150.4(TARS2):c.366C>T (p.Phe122=) http://identifiers.org/clinvar/382263 ^@ NM_002524.4(NRAS):c.-30A>G http://identifiers.org/clinvar/386373 ^@ NM_004980.4(KCND3):c.1323C>T (p.Tyr441=) http://identifiers.org/clinvar/392084 ^@ NM_002506.2(NGF):c.665T>G (p.Phe222Cys) http://identifiers.org/clinvar/383943 ^@ NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg) http://identifiers.org/clinvar/389665 ^@ NM_004980.4(KCND3):c.342C>T (p.Tyr114=) http://identifiers.org/clinvar/389026 ^@ NM_006594.4(AP4B1):c.1328T>C (p.Leu443Pro) http://identifiers.org/clinvar/386852 ^@ NM_006594.4(AP4B1):c.755T>C (p.Val252Ala) http://identifiers.org/clinvar/380330 ^@ NM_002524.4(NRAS):c.36T>G (p.Gly12=) http://identifiers.org/clinvar/384001 ^@ NM_002506.2(NGF):c.78C>T (p.Val26=) http://identifiers.org/clinvar/386971 ^@ NM_002506.2(NGF):c.-120C>T http://identifiers.org/clinvar/392826 ^@ NM_001232.3(CASQ2):c.774T>C (p.Phe258=) http://identifiers.org/clinvar/377624 ^@ NM_001232.3(CASQ2):c.320-18C>T http://identifiers.org/clinvar/377625 ^@ NM_001232.3(CASQ2):c.737+19G>C http://identifiers.org/clinvar/382285 ^@ NM_001232.3(CASQ2):c.-30T>C http://identifiers.org/clinvar/383915 ^@ NM_025150.4(TARS2):c.933C>G (p.Leu311=) http://identifiers.org/clinvar/387887 ^@ NM_001232.3(CASQ2):c.-47A>G http://identifiers.org/clinvar/384213 ^@ NM_025150.4(TARS2):c.1020+15G>A http://identifiers.org/clinvar/392533 ^@ NM_000302.3(PLOD1):c.1149T>C (p.Ala383=) http://identifiers.org/clinvar/382091 ^@ NM_025150.4(TARS2):c.1021-13C>A http://identifiers.org/clinvar/392204 ^@ NM_002524.4(NRAS):c.525T>C (p.Asp175=) http://identifiers.org/clinvar/380558 ^@ NM_025150.4(TARS2):c.1317C>T (p.Ala439=) http://identifiers.org/clinvar/380664 ^@ NM_002524.4(NRAS):c.315C>T (p.Asp105=) http://identifiers.org/clinvar/385038 ^@ NM_025150.4(TARS2):c.1719-20C>G http://identifiers.org/clinvar/381660 ^@ NM_002016.1(FLG):c.7249C>T (p.Gln2417Ter) http://identifiers.org/clinvar/393221 ^@ NM_001114748.1(TMEM240):c.424C>T (p.Arg142Trp) http://identifiers.org/clinvar/392220 ^@ NM_000302.3(PLOD1):c.1756-13C>T http://identifiers.org/clinvar/381148 ^@ NM_001232.3(CASQ2):c.784-17T>G http://identifiers.org/clinvar/392329 ^@ NM_000302.3(PLOD1):c.1902+13G>A http://identifiers.org/clinvar/389052 ^@ NM_005518.3(HMGCS2):c.570C>T (p.Ala190=) http://identifiers.org/clinvar/392610 ^@ NM_001232.3(CASQ2):c.691C>A (p.Pro231Thr) http://identifiers.org/clinvar/382803 ^@ NM_005518.3(HMGCS2):c.435C>T (p.Leu145=) http://identifiers.org/clinvar/379456 ^@ NM_020699.3(GATAD2B):c.658C>T (p.Gln220Ter) http://identifiers.org/clinvar/381872 ^@ NM_006118.3(HAX1):c.180A>G (p.Glu60=) http://identifiers.org/clinvar/389629 ^@ NM_000302.3(PLOD1):c.1218G>A (p.Pro406=) http://identifiers.org/clinvar/384719 ^@ NM_000302.3(PLOD1):c.644-17T>G http://identifiers.org/clinvar/388108 ^@ NM_014874.3(MFN2):c.311+9T>C http://identifiers.org/clinvar/385552 ^@ NM_014874.3(MFN2):c.444C>T (p.Thr148=) http://identifiers.org/clinvar/390731 ^@ NM_000302.3(PLOD1):c.2028+11G>C http://identifiers.org/clinvar/392436 ^@ NM_000748.2(CHRNB2):c.255+15T>G http://identifiers.org/clinvar/391547 ^@ NM_080605.3(B3GALT6):c.46C>T (p.Leu16=) http://identifiers.org/clinvar/379101 ^@ NM_000748.2(CHRNB2):c.1257G>A (p.Pro419=) http://identifiers.org/clinvar/392288 ^@ NM_000748.2(CHRNB2):c.1320C>A (p.Ser440Arg) http://identifiers.org/clinvar/377682 ^@ NM_000748.2(CHRNB2):c.1339-16C>T http://identifiers.org/clinvar/392448 ^@ NM_001111.4(ADAR):c.3201G>A (p.Leu1067=) http://identifiers.org/clinvar/387709 ^@ NM_080605.3(B3GALT6):c.367C>T (p.Pro123Ser) http://identifiers.org/clinvar/391284 ^@ NM_000302.3(PLOD1):c.843+17G>C http://identifiers.org/clinvar/387326 ^@ NM_000302.3(PLOD1):c.976-16C>T http://identifiers.org/clinvar/381004 ^@ NM_005518.3(HMGCS2):c.1311G>A (p.Lys437=) http://identifiers.org/clinvar/381862 ^@ NM_025150.4(TARS2):c.263+8G>T http://identifiers.org/clinvar/392387 ^@ NM_025207.4(FLAD1):c.645A>G (p.Glu215=) http://identifiers.org/clinvar/381979 ^@ NM_000302.3(PLOD1):c.1098-3C>T http://identifiers.org/clinvar/380197 ^@ NM_025150.4(TARS2):c.1197A>G (p.Thr399=) http://identifiers.org/clinvar/392464 ^@ NM_019032.5(ADAMTSL4):c.421C>T (p.Arg141Ter) http://identifiers.org/clinvar/390201 ^@ NM_000302.3(PLOD1):c.1329-20G>A http://identifiers.org/clinvar/383026 ^@ NM_005518.3(HMGCS2):c.1017-18C>T http://identifiers.org/clinvar/382404 ^@ NM_005518.3(HMGCS2):c.597C>T (p.Val199=) http://identifiers.org/clinvar/388642 ^@ NM_005518.3(HMGCS2):c.813A>G (p.Thr271=) http://identifiers.org/clinvar/379192 ^@ NM_014874.3(MFN2):c.-150+19C>T http://identifiers.org/clinvar/385692 ^@ NM_014874.3(MFN2):c.522T>C (p.His174=) http://identifiers.org/clinvar/378134 ^@ NM_014874.3(MFN2):c.663T>C (p.Asp221=) http://identifiers.org/clinvar/381463 ^@ NM_020699.3(GATAD2B):c.1241G>A (p.Arg414Gln) http://identifiers.org/clinvar/390697 ^@ NM_014874.3(MFN2):c.564C>T (p.Cys188=) http://identifiers.org/clinvar/390686 ^@ NM_014874.3(MFN2):c.870C>T (p.Gly290=) http://identifiers.org/clinvar/381830 ^@ NM_024408.3(NOTCH2):c.215G>A (p.Arg72His) http://identifiers.org/clinvar/386621 ^@ NM_014874.3(MFN2):c.1293G>T (p.Ser431=) http://identifiers.org/clinvar/382431 ^@ NM_014874.3(MFN2):c.1476C>A (p.Thr492=) http://identifiers.org/clinvar/391977 ^@ NM_020699.3(GATAD2B):c.1045C>T (p.Gln349Ter) http://identifiers.org/clinvar/379491 ^@ NM_014874.3(MFN2):c.2026G>A (p.Val676Ile) http://identifiers.org/clinvar/391446 ^@ NM_014874.3(MFN2):c.2069+16G>A http://identifiers.org/clinvar/382999 ^@ NM_014874.3(MFN2):c.1875G>A (p.Val625=) http://identifiers.org/clinvar/383338 ^@ NM_006118.3(HAX1):c.123G>C (p.Gly41=) http://identifiers.org/clinvar/386014 ^@ NM_014874.3(MFN2):c.2069+15C>T http://identifiers.org/clinvar/390249 ^@ NM_006118.3(HAX1):c.505-14G>C http://identifiers.org/clinvar/383907 ^@ NM_025150.4(TARS2):c.-22G>A http://identifiers.org/clinvar/386934 ^@ NM_025150.4(TARS2):c.562C>A (p.Leu188Ile) http://identifiers.org/clinvar/392265 ^@ NM_006912.5(RIT1):c.141A>G (p.Pro47=) http://identifiers.org/clinvar/380187 ^@ NM_025150.4(TARS2):c.1251C>T (p.Ala417=) http://identifiers.org/clinvar/381136 ^@ NM_000748.2(CHRNB2):c.372C>T (p.Asp124=) http://identifiers.org/clinvar/381175 ^@ NM_025150.4(TARS2):c.1401+17T>A http://identifiers.org/clinvar/382113 ^@ NM_025150.4(TARS2):c.1453G>A (p.Val485Ile) http://identifiers.org/clinvar/382717 ^@ NM_000748.2(CHRNB2):c.702G>A (p.Pro234=) http://identifiers.org/clinvar/383521 ^@ NM_025150.4(TARS2):c.1540-13C>T http://identifiers.org/clinvar/390144 ^@ NM_080605.3(B3GALT6):c.-23G>A http://identifiers.org/clinvar/392368 ^@ NM_000748.2(CHRNB2):c.1287C>T (p.Asp429=) http://identifiers.org/clinvar/381044 ^@ NM_006912.5(RIT1):c.-43-18T>C http://identifiers.org/clinvar/378088 ^@ NM_170707.3(LMNA):c.12G>A (p.Pro4=) http://identifiers.org/clinvar/381421 ^@ NM_025150.4(TARS2):c.1719-17C>A http://identifiers.org/clinvar/392324 ^@ NM_080605.3(B3GALT6):c.107C>T (p.Pro36Leu) http://identifiers.org/clinvar/386641 ^@ NM_170707.3(LMNA):c.1609-9C>T http://identifiers.org/clinvar/383636 ^@ NM_025150.4(TARS2):c.1719-16C>T http://identifiers.org/clinvar/386756 ^@ NM_001012331.1(NTRK1):c.-44C>T http://identifiers.org/clinvar/390607 ^@ NM_080605.3(B3GALT6):c.583G>C (p.Gly195Arg) http://identifiers.org/clinvar/386359 ^@ NM_025150.4(TARS2):c.2142C>T (p.Ala714=) http://identifiers.org/clinvar/380669 ^@ NM_001012331.1(NTRK1):c.574+10G>A http://identifiers.org/clinvar/391198 ^@ NM_004421.2(DVL1):c.1763G>A (p.Gly588Glu) http://identifiers.org/clinvar/385060 ^@ NM_001012331.1(NTRK1):c.612G>A (p.Ser204=) http://identifiers.org/clinvar/389456 ^@ NM_001111.4(ADAR):c.3130A>T (p.Asn1044Tyr) http://identifiers.org/clinvar/391740 ^@ NM_001111.4(ADAR):c.1006G>A (p.Asp336Asn) http://identifiers.org/clinvar/391268 ^@ NM_004421.2(DVL1):c.1106C>T (p.Ala369Val) http://identifiers.org/clinvar/380192 ^@ NM_025150.4(TARS2):c.1034A>G (p.His345Arg) http://identifiers.org/clinvar/381177 ^@ NM_025150.4(TARS2):c.1076C>T (p.Thr359Met) http://identifiers.org/clinvar/381387 ^@ NM_001012331.1(NTRK1):c.1077C>T (p.Tyr359=) http://identifiers.org/clinvar/389482 ^@ NM_025207.4(FLAD1):c.-304C>T http://identifiers.org/clinvar/380174 ^@ NM_025150.4(TARS2):c.1401+16C>T http://identifiers.org/clinvar/381746 ^@ NM_019032.5(ADAMTSL4):c.2594G>A (p.Arg865His) http://identifiers.org/clinvar/388265 ^@ NM_025207.4(FLAD1):c.-27A>G http://identifiers.org/clinvar/377878 ^@ NM_002016.1(FLG):c.2263G>A (p.Glu755Lys) http://identifiers.org/clinvar/390893 ^@ NM_025207.4(FLAD1):c.1566C>T (p.Tyr522=) http://identifiers.org/clinvar/383432 ^@ NM_000748.2(CHRNB2):c.-37A>C http://identifiers.org/clinvar/385728 ^@ NM_000748.2(CHRNB2):c.453C>T (p.Tyr151=) http://identifiers.org/clinvar/381738 ^@ NM_000748.2(CHRNB2):c.777A>T (p.Pro259=) http://identifiers.org/clinvar/385859 ^@ NM_025150.4(TARS2):c.2103G>A (p.Gln701=) http://identifiers.org/clinvar/387304 ^@ NM_001012331.1(NTRK1):c.*7G>T http://identifiers.org/clinvar/378002 ^@ NM_002241.4(KCNJ10):c.528T>C (p.Ala176=) http://identifiers.org/clinvar/384334 ^@ NM_021222.2(PRUNE1):c.88G>A (p.Asp30Asn) http://identifiers.org/clinvar/382791 ^@ NM_153741.1(DPM3):c.*2A>G http://identifiers.org/clinvar/391946 ^@ NM_002241.4(KCNJ10):c.401G>A (p.Arg134His) http://identifiers.org/clinvar/386953 ^@ NM_000702.3(ATP1A2):c.381+13G>T http://identifiers.org/clinvar/392923 ^@ NM_001005741.2(GBA):c.860G>T (p.Cys287Phe) http://identifiers.org/clinvar/384335 ^@ NM_021222.2(PRUNE1):c.383G>A (p.Arg128Gln) http://identifiers.org/clinvar/381259 ^@ NM_000702.3(ATP1A2):c.789G>A (p.Thr263=) http://identifiers.org/clinvar/389121 ^@ NM_152263.3(TPM3):c.340C>T (p.Leu114=) http://identifiers.org/clinvar/377680 ^@ NM_000748.2(CHRNB2):c.109C>T (p.Leu37=) http://identifiers.org/clinvar/383431 ^@ NM_000702.3(ATP1A2):c.1017+9G>T http://identifiers.org/clinvar/391170 ^@ NM_000748.2(CHRNB2):c.294G>A (p.Glu98=) http://identifiers.org/clinvar/383452 ^@ NM_000702.3(ATP1A2):c.1022G>T (p.Cys341Phe) http://identifiers.org/clinvar/377526 ^@ NM_000702.3(ATP1A2):c.1104G>A (p.Thr368=) http://identifiers.org/clinvar/392479 ^@ NM_170707.3(LMNA):c.566G>A (p.Arg189Gln) http://identifiers.org/clinvar/392148 ^@ NM_000702.3(ATP1A2):c.1133C>T (p.Thr378Ile) http://identifiers.org/clinvar/383898 ^@ NM_170707.3(LMNA):c.811-12C>T http://identifiers.org/clinvar/377529 ^@ NM_000702.3(ATP1A2):c.1470C>T (p.Ile490=) http://identifiers.org/clinvar/380414 ^@ NM_000748.2(CHRNB2):c.1249G>A (p.Gly417Arg) http://identifiers.org/clinvar/388344 ^@ NM_000748.2(CHRNB2):c.1425C>T (p.Ile475=) http://identifiers.org/clinvar/385073 ^@ NM_000702.3(ATP1A2):c.1652-6C>T http://identifiers.org/clinvar/381947 ^@ NM_000702.3(ATP1A2):c.1815C>T (p.Ser605=) http://identifiers.org/clinvar/389844 ^@ NM_000702.3(ATP1A2):c.2148G>A (p.Val716=) http://identifiers.org/clinvar/385232 ^@ NM_000748.2(CHRNB2):c.348T>C (p.Asp116=) http://identifiers.org/clinvar/384639 ^@ NM_000748.2(CHRNB2):c.*13T>C http://identifiers.org/clinvar/387356 ^@ NM_001111.4(ADAR):c.3095G>A (p.Arg1032His) http://identifiers.org/clinvar/378089 ^@ NM_170707.3(LMNA):c.1157+18C>T http://identifiers.org/clinvar/386337 ^@ NM_170707.3(LMNA):c.1488+15G>A http://identifiers.org/clinvar/379384 ^@ NM_000748.2(CHRNB2):c.825G>A (p.Ala275=) http://identifiers.org/clinvar/380712 ^@ NM_000702.3(ATP1A2):c.2427G>A (p.Leu809=) http://identifiers.org/clinvar/392478 ^@ NM_001111.4(ADAR):c.615C>A (p.Asn205Lys) http://identifiers.org/clinvar/380624 ^@ NM_001012331.1(NTRK1):c.321G>T (p.Ala107=) http://identifiers.org/clinvar/380423 ^@ NM_000702.3(ATP1A2):c.2722C>T (p.Arg908Trp) http://identifiers.org/clinvar/382618 ^@ NM_000748.2(CHRNB2):c.1087C>T (p.Leu363=) http://identifiers.org/clinvar/388839 ^@ NM_000702.3(ATP1A2):c.2887G>A (p.Ala963Thr) http://identifiers.org/clinvar/390018 ^@ NM_001012331.1(NTRK1):c.531T>C (p.Cys177=) http://identifiers.org/clinvar/389882 ^@ NM_001012331.1(NTRK1):c.1336+8G>A http://identifiers.org/clinvar/382339 ^@ NM_000702.3(ATP1A2):c.2969C>T (p.Pro990Leu) http://identifiers.org/clinvar/379544 ^@ NM_001012331.1(NTRK1):c.1336+18A>T http://identifiers.org/clinvar/388747 ^@ NM_025207.4(FLAD1):c.1119G>A (p.Gly373=) http://identifiers.org/clinvar/390084 ^@ NM_025207.4(FLAD1):c.1167C>T (p.Thr389=) http://identifiers.org/clinvar/380670 ^@ NM_001012331.1(NTRK1):c.1890G>A (p.Ala630=) http://identifiers.org/clinvar/383631 ^@ NM_153741.1(DPM3):c.-6+6T>C http://identifiers.org/clinvar/387474 ^@ NM_170707.3(LMNA):c.948G>A (p.Lys316=) http://identifiers.org/clinvar/382766 ^@ NM_001012331.1(NTRK1):c.2049G>A (p.Leu683=) http://identifiers.org/clinvar/379044 ^@ NM_170707.3(LMNA):c.1157+19G>A http://identifiers.org/clinvar/381050 ^@ NM_000085.4(CLCNKB):c.577-5C>T http://identifiers.org/clinvar/377683 ^@ NM_000085.4(CLCNKB):c.876T>C (p.Cys292=) http://identifiers.org/clinvar/389902 ^@ NM_170707.3(LMNA):c.1317C>T (p.Arg439=) http://identifiers.org/clinvar/388960 ^@ NM_003001.3(SDHC):c.78-19C>T http://identifiers.org/clinvar/378090 ^@ NM_170707.3(LMNA):c.1857T>C (p.Ser619=) http://identifiers.org/clinvar/384264 ^@ NM_006996.2(SLC19A2):c.-23G>C http://identifiers.org/clinvar/382655 ^@ NM_170707.3(LMNA):c.*749G>A http://identifiers.org/clinvar/377681 ^@ NM_000748.2(CHRNB2):c.1128C>T (p.Leu376=) http://identifiers.org/clinvar/386229 ^@ NM_001012331.1(NTRK1):c.2254G>A (p.Ala752Thr) http://identifiers.org/clinvar/392272 ^@ NM_000748.2(CHRNB2):c.1308C>T (p.Asp436=) http://identifiers.org/clinvar/393152 ^@ NM_003126.2(SPTA1):c.5081G>A (p.Arg1694His) http://identifiers.org/clinvar/387937 ^@ NM_022089.3(ATP13A2):c.3277G>C (p.Val1093Leu) http://identifiers.org/clinvar/388538 ^@ NM_022089.3(ATP13A2):c.229C>T (p.Leu77Phe) http://identifiers.org/clinvar/387233 ^@ NM_000748.2(CHRNB2):c.1380C>T (p.Arg460=) http://identifiers.org/clinvar/385761 ^@ NM_003000.2(SDHB):c.766-20T>C http://identifiers.org/clinvar/378003 ^@ NM_002241.4(KCNJ10):c.1137C>G (p.Val379=) http://identifiers.org/clinvar/382590 ^@ NM_025207.4(FLAD1):c.729C>T (p.Phe243=) http://identifiers.org/clinvar/379574 ^@ NM_006894.5(FMO3):c.859G>T (p.Glu287Ter) http://identifiers.org/clinvar/380853 ^@ NM_001012331.1(NTRK1):c.-45110G>A http://identifiers.org/clinvar/388090 ^@ NM_001012331.1(NTRK1):c.291C>T (p.Thr97=) http://identifiers.org/clinvar/387489 ^@ NM_153741.1(DPM3):c.60C>T (p.Ala20=) http://identifiers.org/clinvar/384058 ^@ NM_153741.1(DPM3):c.-5-80C>G http://identifiers.org/clinvar/391545 ^@ NM_002241.4(KCNJ10):c.1-20T>G http://identifiers.org/clinvar/381382 ^@ NM_000702.3(ATP1A2):c.36C>T (p.Ala12=) http://identifiers.org/clinvar/392928 ^@ NM_006912.5(RIT1):c.547C>G (p.Arg183Gly) http://identifiers.org/clinvar/391056 ^@ NM_001012331.1(NTRK1):c.428+12C>T http://identifiers.org/clinvar/381816 ^@ NM_170707.3(LMNA):c.356+18G>T http://identifiers.org/clinvar/381994 ^@ NM_000702.3(ATP1A2):c.381+12C>T http://identifiers.org/clinvar/386794 ^@ NM_000702.3(ATP1A2):c.496-15T>C http://identifiers.org/clinvar/390477 ^@ NM_018136.4(ASPM):c.6702A>G (p.Gln2234=) http://identifiers.org/clinvar/390538 ^@ NM_000702.3(ATP1A2):c.619C>T (p.His207Tyr) http://identifiers.org/clinvar/387787 ^@ NM_000702.3(ATP1A2):c.705G>A (p.Leu235=) http://identifiers.org/clinvar/378307 ^@ NM_001012331.1(NTRK1):c.630C>T (p.Asp210=) http://identifiers.org/clinvar/391778 ^@ NM_018136.4(ASPM):c.6686G>C (p.Arg2229Thr) http://identifiers.org/clinvar/393151 ^@ NM_003126.2(SPTA1):c.3357G>C (p.Lys1119Asn) http://identifiers.org/clinvar/390221 ^@ NM_170707.3(LMNA):c.1209C>T (p.Ser403=) http://identifiers.org/clinvar/382736 ^@ NM_000702.3(ATP1A2):c.1110C>T (p.Thr370=) http://identifiers.org/clinvar/380241 ^@ NM_002241.4(KCNJ10):c.705T>C (p.Asn235=) http://identifiers.org/clinvar/387342 ^@ NM_000702.3(ATP1A2):c.1282C>T (p.Arg428Cys) http://identifiers.org/clinvar/384868 ^@ NM_018136.4(ASPM):c.5472A>G (p.Gln1824=) http://identifiers.org/clinvar/378001 ^@ NM_002241.4(KCNJ10):c.219G>A (p.Ala73=) http://identifiers.org/clinvar/383349 ^@ NM_170707.3(LMNA):c.1605G>A (p.Gly535=) http://identifiers.org/clinvar/386612 ^@ NM_170707.3(LMNA):c.1662G>A (p.Glu554=) http://identifiers.org/clinvar/387509 ^@ NM_000702.3(ATP1A2):c.1578G>A (p.Pro526=) http://identifiers.org/clinvar/390972 ^@ NM_170707.3(LMNA):c.1863G>A (p.Thr621=) http://identifiers.org/clinvar/385398 ^@ NM_018136.4(ASPM):c.4066-10C>A http://identifiers.org/clinvar/388993 ^@ NM_018136.4(ASPM):c.3772G>A (p.Ala1258Thr) http://identifiers.org/clinvar/381674 ^@ NM_000702.3(ATP1A2):c.1581C>G (p.Leu527=) http://identifiers.org/clinvar/390361 ^@ NM_018136.4(ASPM):c.3367G>C (p.Val1123Leu) http://identifiers.org/clinvar/384117 ^@ NM_022367.3(SEMA4A):c.1528C>T (p.Arg510Trp) http://identifiers.org/clinvar/388373 ^@ NM_000702.3(ATP1A2):c.1962C>G (p.Pro654=) http://identifiers.org/clinvar/388425 ^@ NM_000702.3(ATP1A2):c.1964+14A>G http://identifiers.org/clinvar/379166 ^@ NM_018136.4(ASPM):c.3247A>G (p.Ile1083Val) http://identifiers.org/clinvar/388847 ^@ NM_018136.4(ASPM):c.3083-11T>C http://identifiers.org/clinvar/380126 ^@ NM_000702.3(ATP1A2):c.2115+19G>A http://identifiers.org/clinvar/384125 ^@ NM_002838.4(PTPRC):c.756A>C (p.Leu252=) http://identifiers.org/clinvar/391945 ^@ NM_002241.4(KCNJ10):c.-1+1G>A http://identifiers.org/clinvar/392896 ^@ NM_000702.3(ATP1A2):c.44C>T (p.Thr15Met) http://identifiers.org/clinvar/385689 ^@ NM_000702.3(ATP1A2):c.2564-8A>G http://identifiers.org/clinvar/386555 ^@ NM_000702.3(ATP1A2):c.2709+17A>G http://identifiers.org/clinvar/390229 ^@ NM_000702.3(ATP1A2):c.2770G>A (p.Val924Met) http://identifiers.org/clinvar/378447 ^@ NM_002838.4(PTPRC):c.2404-13A>G http://identifiers.org/clinvar/380963 ^@ NM_002838.4(PTPRC):c.2526C>T (p.Ser842=) http://identifiers.org/clinvar/381381 ^@ NM_000702.3(ATP1A2):c.2841-7C>T http://identifiers.org/clinvar/381727 ^@ NM_000085.4(CLCNKB):c.359G>T (p.Gly120Val) http://identifiers.org/clinvar/392278 ^@ NM_000069.2(CACNA1S):c.5576A>G (p.Asp1859Gly) http://identifiers.org/clinvar/381935 ^@ NM_000702.3(ATP1A2):c.205G>A (p.Val69Ile) http://identifiers.org/clinvar/381082 ^@ NM_000069.2(CACNA1S):c.3414+3A>T http://identifiers.org/clinvar/382030 ^@ NM_004550.4(NDUFS2):c.1116+20A>G http://identifiers.org/clinvar/390263 ^@ NM_004550.4(NDUFS2):c.1179A>G (p.Pro393=) http://identifiers.org/clinvar/378254 ^@ NM_004550.4(NDUFS2):c.1355-4C>G http://identifiers.org/clinvar/387557 ^@ NM_000069.2(CACNA1S):c.2835C>T (p.Ile945=) http://identifiers.org/clinvar/383624 ^@ NM_000069.2(CACNA1S):c.2148C>T (p.Thr716=) http://identifiers.org/clinvar/388233 ^@ NM_001001430.2(TNNT2):c.852C>T (p.Thr284=) http://identifiers.org/clinvar/387198 ^@ NM_000530.7(MPZ):c.235-7C>T http://identifiers.org/clinvar/387892 ^@ NM_018417.5(ADCY10):c.2872G>T (p.Glu958Ter) http://identifiers.org/clinvar/391638 ^@ NM_000702.3(ATP1A2):c.513G>A (p.Arg171=) http://identifiers.org/clinvar/378741 ^@ NM_001001430.2(TNNT2):c.84G>A (p.Ala28=) http://identifiers.org/clinvar/379125 ^@ NM_001001430.2(TNNT2):c.68-1590C>T http://identifiers.org/clinvar/378305 ^@ NM_001012331.1(NTRK1):c.-39A>G http://identifiers.org/clinvar/378306 ^@ NM_001012331.1(NTRK1):c.482G>A (p.Arg161His) http://identifiers.org/clinvar/379383 ^@ NM_000702.3(ATP1A2):c.1155C>A (p.Thr385=) http://identifiers.org/clinvar/386282 ^@ NM_006996.2(SLC19A2):c.1278A>G (p.Val426=) http://identifiers.org/clinvar/388720 ^@ NM_001001430.2(TNNT2):c.-3A>G http://identifiers.org/clinvar/391573 ^@ NM_000130.4(F5):c.1640T>C (p.Val547Ala) http://identifiers.org/clinvar/384223 ^@ NM_005216.4(DDOST):c.1260C>T (p.Arg420=) http://identifiers.org/clinvar/385392 ^@ NM_000702.3(ATP1A2):c.1461+5G>A http://identifiers.org/clinvar/385023 ^@ NM_005216.4(DDOST):c.316+9T>A http://identifiers.org/clinvar/384787 ^@ NM_001012331.1(NTRK1):c.1068C>T (p.Asn356=) http://identifiers.org/clinvar/392452 ^@ NM_000702.3(ATP1A2):c.1540C>T (p.Arg514Trp) http://identifiers.org/clinvar/383251 ^@ NM_001012331.1(NTRK1):c.2029-6T>C http://identifiers.org/clinvar/387935 ^@ NM_022089.3(ATP13A2):c.197G>A (p.Arg66His) http://identifiers.org/clinvar/379674 ^@ NM_018122.4(DARS2):c.303C>T (p.Ala101=) http://identifiers.org/clinvar/389209 ^@ NM_002241.4(KCNJ10):c.147C>T (p.Phe49=) http://identifiers.org/clinvar/385589 ^@ NM_002241.4(KCNJ10):c.39T>C (p.Thr13=) http://identifiers.org/clinvar/384160 ^@ NM_000702.3(ATP1A2):c.1710G>A (p.Thr570=) http://identifiers.org/clinvar/377530 ^@ NM_000702.3(ATP1A2):c.1761T>C (p.Ser587=) http://identifiers.org/clinvar/383829 ^@ NM_000702.3(ATP1A2):c.2115+15G>A http://identifiers.org/clinvar/390376 ^@ NM_006147.3(IRF6):c.86T>G (p.Leu29Arg) http://identifiers.org/clinvar/389522 ^@ NM_002241.4(KCNJ10):c.21G>A (p.Val7=) http://identifiers.org/clinvar/388423 ^@ NM_000702.3(ATP1A2):c.280C>T (p.Leu94Phe) http://identifiers.org/clinvar/380113 ^@ NM_018122.4(DARS2):c.580G>A (p.Val194Ile) http://identifiers.org/clinvar/378914 ^@ NM_000702.3(ATP1A2):c.2136G>A (p.Thr712=) http://identifiers.org/clinvar/384921 ^@ NM_000702.3(ATP1A2):c.2440-14C>T http://identifiers.org/clinvar/386874 ^@ NM_000702.3(ATP1A2):c.495+9G>T http://identifiers.org/clinvar/378847 ^@ NM_206933.2(USH2A):c.12284G>A (p.Gly4095Asp) http://identifiers.org/clinvar/388169 ^@ NM_000478.5(ALPL):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/377525 ^@ NM_000702.3(ATP1A2):c.987C>T (p.Asn329=) http://identifiers.org/clinvar/377527 ^@ NM_000702.3(ATP1A2):c.1203C>T (p.Thr401=) http://identifiers.org/clinvar/384092 ^@ NM_033343.3(LHX4):c.1110C>G (p.Gly370=) http://identifiers.org/clinvar/381995 ^@ NM_000702.3(ATP1A2):c.2790C>T (p.Asp930=) http://identifiers.org/clinvar/391961 ^@ NM_206933.2(USH2A):c.7291C>T (p.Pro2431Ser) http://identifiers.org/clinvar/381991 ^@ NM_000702.3(ATP1A2):c.2973C>T (p.Tyr991=) http://identifiers.org/clinvar/391385 ^@ NM_004550.4(NDUFS2):c.95+8C>T http://identifiers.org/clinvar/386256 ^@ NM_000702.3(ATP1A2):c.1251G>A (p.Thr417=) http://identifiers.org/clinvar/389800 ^@ NM_004550.4(NDUFS2):c.514+11C>G http://identifiers.org/clinvar/390997 ^@ NM_000530.7(MPZ):c.645+12T>C http://identifiers.org/clinvar/387927 ^@ NM_022089.3(ATP13A2):c.1157A>G (p.Tyr386Cys) http://identifiers.org/clinvar/392120 ^@ NM_018122.4(DARS2):c.1355T>G (p.Leu452Ter) http://identifiers.org/clinvar/392780 ^@ NM_003238.4(TGFB2):c.338C>T (p.Pro113Leu) http://identifiers.org/clinvar/379274 ^@ NM_000433.3(NCF2):c.836C>T (p.Thr279Met) http://identifiers.org/clinvar/381708 ^@ NM_003238.4(TGFB2):c.896G>A (p.Arg299Gln) http://identifiers.org/clinvar/377528 ^@ NM_000702.3(ATP1A2):c.1251G>C (p.Thr417=) http://identifiers.org/clinvar/391609 ^@ NM_002074.4(GNB1):c.239T>G (p.Ile80Ser) http://identifiers.org/clinvar/390014 ^@ NM_000702.3(ATP1A2):c.1263A>G (p.Arg421=) http://identifiers.org/clinvar/383264 ^@ NM_000702.3(ATP1A2):c.1283G>A (p.Arg428His) http://identifiers.org/clinvar/382153 ^@ NM_000702.3(ATP1A2):c.1311C>T (p.Asn437=) http://identifiers.org/clinvar/382809 ^@ NM_003238.4(TGFB2):c.1140C>G (p.Cys380Trp) http://identifiers.org/clinvar/390468 ^@ NM_000721.3(CACNA1E):c.1807A>C (p.Ile603Leu) http://identifiers.org/clinvar/383972 ^@ NM_003238.4(TGFB2):c.*9G>A http://identifiers.org/clinvar/392888 ^@ NM_000186.3(CFH):c.1141C>A (p.Pro381Thr) http://identifiers.org/clinvar/381041 ^@ NM_003238.4(TGFB2):c.*15T>C http://identifiers.org/clinvar/380570 ^@ NM_018060.3(IARS2):c.23G>T (p.Arg8Leu) http://identifiers.org/clinvar/386616 ^@ NM_018060.3(IARS2):c.390+10A>G http://identifiers.org/clinvar/382998 ^@ NM_018060.3(IARS2):c.942T>C (p.Pro314=) http://identifiers.org/clinvar/384479 ^@ NM_000702.3(ATP1A2):c.1318G>A (p.Val440Met) http://identifiers.org/clinvar/382131 ^@ NM_000702.3(ATP1A2):c.1368G>A (p.Lys456=) http://identifiers.org/clinvar/383700 ^@ NM_000702.3(ATP1A2):c.1590G>A (p.Glu530=) http://identifiers.org/clinvar/387995 ^@ NM_018060.3(IARS2):c.990C>T (p.Tyr330=) http://identifiers.org/clinvar/392754 ^@ NM_018136.4(ASPM):c.9383A>G (p.Tyr3128Cys) http://identifiers.org/clinvar/380077 ^@ NM_018060.3(IARS2):c.1726A>G (p.Lys576Glu) http://identifiers.org/clinvar/385623 ^@ NM_018136.4(ASPM):c.8757A>T (p.Arg2919Ser) http://identifiers.org/clinvar/381990 ^@ NM_000702.3(ATP1A2):c.1652-8C>T http://identifiers.org/clinvar/391363 ^@ NM_000721.3(CACNA1E):c.5578G>A (p.Ala1860Thr) http://identifiers.org/clinvar/377499 ^@ NM_018136.4(ASPM):c.10331+18G>A http://identifiers.org/clinvar/391087 ^@ NM_018060.3(IARS2):c.1809C>T (p.Ser603=) http://identifiers.org/clinvar/389308 ^@ NM_018136.4(ASPM):c.9626T>C (p.Ile3209Thr) http://identifiers.org/clinvar/386227 ^@ NM_018136.4(ASPM):c.7752A>G (p.Gln2584=) http://identifiers.org/clinvar/387768 ^@ NM_018060.3(IARS2):c.2316A>G (p.Glu772=) http://identifiers.org/clinvar/391686 ^@ NM_012414.3(RAB3GAP2):c.2715C>T (p.Ser905=) http://identifiers.org/clinvar/387515 ^@ NM_018136.4(ASPM):c.9006A>G (p.Ala3002=) http://identifiers.org/clinvar/381375 ^@ NM_003036.3(SKI):c.726C>T (p.Ala242=) http://identifiers.org/clinvar/390448 ^@ NM_000702.3(ATP1A2):c.1661A>T (p.Gln554Leu) http://identifiers.org/clinvar/384176 ^@ NM_000702.3(ATP1A2):c.1859C>G (p.Thr620Arg) http://identifiers.org/clinvar/379093 ^@ NM_018136.4(ASPM):c.6514G>A (p.Val2172Ile) http://identifiers.org/clinvar/384655 ^@ NM_000702.3(ATP1A2):c.2016G>A (p.Ser672=) http://identifiers.org/clinvar/393089 ^@ NM_003036.3(SKI):c.845G>A (p.Arg282Gln) http://identifiers.org/clinvar/384403 ^@ NM_000702.3(ATP1A2):c.2088C>T (p.Leu696=) http://identifiers.org/clinvar/384278 ^@ NM_004550.4(NDUFS2):c.1355-7C>T http://identifiers.org/clinvar/384768 ^@ NM_020247.4(COQ8A):c.594C>T (p.Ser198=) http://identifiers.org/clinvar/389632 ^@ NM_020247.4(COQ8A):c.1256+11C>T http://identifiers.org/clinvar/389374 ^@ NM_018136.4(ASPM):c.4135T>C (p.Ser1379Pro) http://identifiers.org/clinvar/387514 ^@ NM_018136.4(ASPM):c.8371G>A (p.Gly2791Ser) http://identifiers.org/clinvar/386470 ^@ NM_018136.4(ASPM):c.7106A>C (p.Gln2369Pro) http://identifiers.org/clinvar/377445 ^@ NM_020247.4(COQ8A):c.1572+7G>A http://identifiers.org/clinvar/391150 ^@ NM_020435.3(GJC2):c.739C>T (p.Arg247Cys) http://identifiers.org/clinvar/391373 ^@ NM_003001.3(SDHC):c.*13C>G http://identifiers.org/clinvar/377765 ^@ NM_018122.4(DARS2):c.128-4A>T http://identifiers.org/clinvar/384547 ^@ NM_020435.3(GJC2):c.791A>G (p.Lys264Arg) http://identifiers.org/clinvar/386278 ^@ NM_001010867.3(IBA57):c.204C>T (p.Pro68=) http://identifiers.org/clinvar/385397 ^@ NM_018136.4(ASPM):c.4033A>G (p.Lys1345Glu) http://identifiers.org/clinvar/388177 ^@ NM_018136.4(ASPM):c.1871T>C (p.Ile624Thr) http://identifiers.org/clinvar/377767 ^@ NM_018122.4(DARS2):c.1345-16C>T http://identifiers.org/clinvar/390874 ^@ NM_018136.4(ASPM):c.177C>G (p.Ala59=) http://identifiers.org/clinvar/388994 ^@ NM_018136.4(ASPM):c.5990C>T (p.Ala1997Val) http://identifiers.org/clinvar/379988 ^@ NM_001010867.3(IBA57):c.631G>A (p.Gly211Ser) http://identifiers.org/clinvar/380459 ^@ NM_002838.4(PTPRC):c.1268C>T (p.Thr423Ile) http://identifiers.org/clinvar/378446 ^@ NM_002838.4(PTPRC):c.1829+19T>A http://identifiers.org/clinvar/391349 ^@ NM_033343.3(LHX4):c.1066G>A (p.Ala356Thr) http://identifiers.org/clinvar/384475 ^@ NM_018136.4(ASPM):c.3156G>A (p.Ala1052=) http://identifiers.org/clinvar/383815 ^@ NM_002838.4(PTPRC):c.2066-14T>C http://identifiers.org/clinvar/386037 ^@ NM_001010867.3(IBA57):c.*19G>A http://identifiers.org/clinvar/387715 ^@ NM_000721.3(CACNA1E):c.2142+3A>G http://identifiers.org/clinvar/388101 ^@ NM_018136.4(ASPM):c.19G>C (p.Gly7Arg) http://identifiers.org/clinvar/378444 ^@ NM_002838.4(PTPRC):c.177C>G (p.Pro59=) http://identifiers.org/clinvar/391096 ^@ NM_002838.4(PTPRC):c.3813C>A (p.Leu1271=) http://identifiers.org/clinvar/378448 ^@ NM_002838.4(PTPRC):c.3780T>C (p.Asn1260=) http://identifiers.org/clinvar/391924 ^@ NM_000069.2(CACNA1S):c.4572C>T (p.Tyr1524=) http://identifiers.org/clinvar/389563 ^@ NM_000069.2(CACNA1S):c.5227-20C>T http://identifiers.org/clinvar/390913 ^@ NM_000069.2(CACNA1S):c.4114-8T>C http://identifiers.org/clinvar/381474 ^@ NM_001100.3(ACTA1):c.1104C>T (p.Gly368=) http://identifiers.org/clinvar/389444 ^@ NM_000069.2(CACNA1S):c.4026G>A (p.Ser1342=) http://identifiers.org/clinvar/384314 ^@ NM_000069.2(CACNA1S):c.3953+14G>A http://identifiers.org/clinvar/384485 ^@ NM_001100.3(ACTA1):c.454+11G>A http://identifiers.org/clinvar/381642 ^@ NM_001100.3(ACTA1):c.137T>C (p.Met46Thr) http://identifiers.org/clinvar/386213 ^@ NM_003036.3(SKI):c.1197C>A (p.Ala399=) http://identifiers.org/clinvar/389110 ^@ NM_000069.2(CACNA1S):c.3844G>T (p.Ala1282Ser) http://identifiers.org/clinvar/387090 ^@ NM_000069.2(CACNA1S):c.2920G>A (p.Val974Met) http://identifiers.org/clinvar/384367 ^@ NM_000721.3(CACNA1E):c.3491C>T (p.Ala1164Val) http://identifiers.org/clinvar/391764 ^@ NM_000069.2(CACNA1S):c.2505T>C (p.Phe835=) http://identifiers.org/clinvar/389230 ^@ NM_000069.2(CACNA1S):c.2365C>T (p.Arg789Cys) http://identifiers.org/clinvar/387432 ^@ NM_003036.3(SKI):c.1269G>A (p.Pro423=) http://identifiers.org/clinvar/383222 ^@ NM_018136.4(ASPM):c.7701T>C (p.Tyr2567=) http://identifiers.org/clinvar/385304 ^@ NM_000069.2(CACNA1S):c.2582G>C (p.Gly861Ala) http://identifiers.org/clinvar/387485 ^@ NM_000069.2(CACNA1S):c.1827+3A>G http://identifiers.org/clinvar/392317 ^@ NM_018136.4(ASPM):c.6813G>C (p.Arg2271Ser) http://identifiers.org/clinvar/391305 ^@ NM_000069.2(CACNA1S):c.1393+11A>T http://identifiers.org/clinvar/380612 ^@ NM_018136.4(ASPM):c.4363G>T (p.Glu1455Ter) http://identifiers.org/clinvar/388003 ^@ NM_000069.2(CACNA1S):c.588C>G (p.Leu196=) http://identifiers.org/clinvar/384035 ^@ NM_000069.2(CACNA1S):c.481G>A (p.Val161Ile) http://identifiers.org/clinvar/383505 ^@ NM_003036.3(SKI):c.1932G>A (p.Ala644=) http://identifiers.org/clinvar/387498 ^@ NM_018136.4(ASPM):c.2746G>A (p.Asp916Asn) http://identifiers.org/clinvar/386007 ^@ NM_018136.4(ASPM):c.1790G>A (p.Arg597Gln) http://identifiers.org/clinvar/387790 ^@ NM_001001430.2(TNNT2):c.-40G>T http://identifiers.org/clinvar/390276 ^@ NM_005216.4(DDOST):c.*17C>T http://identifiers.org/clinvar/391306 ^@ NM_000069.2(CACNA1S):c.2142C>A (p.Ile714=) http://identifiers.org/clinvar/393259 ^@ NM_000069.2(CACNA1S):c.1382C>A (p.Thr461Asn) http://identifiers.org/clinvar/387059 ^@ NM_005216.4(DDOST):c.783C>A (p.Leu261=) http://identifiers.org/clinvar/390751 ^@ NM_000069.2(CACNA1S):c.789C>A (p.Gly263=) http://identifiers.org/clinvar/391253 ^@ NM_014053.3(FLVCR1):c.133G>A (p.Gly45Ser) http://identifiers.org/clinvar/387513 ^@ NM_018136.4(ASPM):c.450T>C (p.Leu150=) http://identifiers.org/clinvar/391024 ^@ NM_002838.4(PTPRC):c.132A>G (p.Pro44=) http://identifiers.org/clinvar/388616 ^@ NM_003036.3(SKI):c.1999-16C>T http://identifiers.org/clinvar/391581 ^@ NM_000069.2(CACNA1S):c.165G>A (p.Thr55=) http://identifiers.org/clinvar/381586 ^@ NM_000478.5(ALPL):c.668G>A (p.Arg223Gln) http://identifiers.org/clinvar/390680 ^@ NM_001005337.2(PKP1):c.2022-11C>T http://identifiers.org/clinvar/379207 ^@ NM_002838.4(PTPRC):c.782G>T (p.Gly261Val) http://identifiers.org/clinvar/387041 ^@ NM_001001430.2(TNNT2):c.522G>A (p.Lys174=) http://identifiers.org/clinvar/389581 ^@ NM_001001430.2(TNNT2):c.459+18C>T http://identifiers.org/clinvar/379573 ^@ NM_003238.4(TGFB2):c.213C>A (p.Tyr71Ter) http://identifiers.org/clinvar/389145 ^@ NM_001001430.2(TNNT2):c.391C>G (p.Arg131Gly) http://identifiers.org/clinvar/387466 ^@ NM_001001430.2(TNNT2):c.53-6G>A http://identifiers.org/clinvar/380608 ^@ NM_003238.4(TGFB2):c.303G>A (p.Lys101=) http://identifiers.org/clinvar/386021 ^@ NM_003036.3(SKI):c.2064G>C (p.Leu688=) http://identifiers.org/clinvar/378445 ^@ NM_002838.4(PTPRC):c.1052A>G (p.Asn351Ser) http://identifiers.org/clinvar/387830 ^@ NM_152490.4(B3GALNT2):c.1373G>A (p.Ser458Asn) http://identifiers.org/clinvar/391138 ^@ NM_005076.4(CNTN2):c.2657T>A (p.Val886Glu) http://identifiers.org/clinvar/385994 ^@ NM_152490.4(B3GALNT2):c.1215C>T (p.Pro405=) http://identifiers.org/clinvar/380373 ^@ NM_002838.4(PTPRC):c.3510-3T>C http://identifiers.org/clinvar/392277 ^@ NM_000069.2(CACNA1S):c.5462A>G (p.Glu1821Gly) http://identifiers.org/clinvar/391800 ^@ NM_005216.4(DDOST):c.87C>G (p.Leu29=) http://identifiers.org/clinvar/388826 ^@ NM_000069.2(CACNA1S):c.5105G>A (p.Arg1702Gln) http://identifiers.org/clinvar/388777 ^@ NM_000069.2(CACNA1S):c.4810C>A (p.Leu1604Met) http://identifiers.org/clinvar/388011 ^@ NM_152490.4(B3GALNT2):c.1089C>T (p.Leu363=) http://identifiers.org/clinvar/390518 ^@ NM_000069.2(CACNA1S):c.2657+10G>A http://identifiers.org/clinvar/392142 ^@ NM_005216.4(DDOST):c.-37T>C http://identifiers.org/clinvar/381585 ^@ NM_000478.5(ALPL):c.227A>G (p.Gln76Arg) http://identifiers.org/clinvar/390755 ^@ NM_000069.2(CACNA1S):c.2657+9C>T http://identifiers.org/clinvar/393047 ^@ NM_206933.2(USH2A):c.12415G>C (p.Gly4139Arg) http://identifiers.org/clinvar/381814 ^@ NM_005529.6(HSPG2):c.8316+3A>G http://identifiers.org/clinvar/381429 ^@ NM_018060.3(IARS2):c.41C>T (p.Ala14Val) http://identifiers.org/clinvar/389213 ^@ NM_000069.2(CACNA1S):c.1619+15C>T http://identifiers.org/clinvar/391202 ^@ NM_206933.2(USH2A):c.3531T>C (p.Gly1177=) http://identifiers.org/clinvar/384832 ^@ NM_152490.4(B3GALNT2):c.706A>G (p.Arg236Gly) http://identifiers.org/clinvar/385277 ^@ NM_152490.4(B3GALNT2):c.104G>A (p.Gly35Asp) http://identifiers.org/clinvar/379205 ^@ NM_206933.2(USH2A):c.1227G>A (p.Trp409Ter) http://identifiers.org/clinvar/389659 ^@ NM_001103.3(ACTN2):c.153C>T (p.His51=) http://identifiers.org/clinvar/393202 ^@ NM_001103.3(ACTN2):c.970C>T (p.Arg324Trp) http://identifiers.org/clinvar/382818 ^@ NM_003238.4(TGFB2):c.297C>T (p.Tyr99=) http://identifiers.org/clinvar/387890 ^@ NM_003238.4(TGFB2):c.747A>G (p.Arg249=) http://identifiers.org/clinvar/391246 ^@ NM_001103.3(ACTN2):c.1406+18C>T http://identifiers.org/clinvar/381902 ^@ NM_003238.4(TGFB2):c.870A>G (p.Arg290=) http://identifiers.org/clinvar/389202 ^@ NM_018060.3(IARS2):c.267+5G>C http://identifiers.org/clinvar/380023 ^@ NM_018060.3(IARS2):c.268-7A>T http://identifiers.org/clinvar/390309 ^@ NM_001103.3(ACTN2):c.1771A>G (p.Ile591Val) http://identifiers.org/clinvar/386603 ^@ NM_001103.3(ACTN2):c.1974+13C>T http://identifiers.org/clinvar/381167 ^@ NM_018060.3(IARS2):c.111G>C (p.Thr37=) http://identifiers.org/clinvar/393011 ^@ NM_012414.3(RAB3GAP2):c.3701T>C (p.Val1234Ala) http://identifiers.org/clinvar/383711 ^@ NM_012414.3(RAB3GAP2):c.2890G>C (p.Asp964His) http://identifiers.org/clinvar/387854 ^@ NM_001103.3(ACTN2):c.2056A>C (p.Ile686Leu) http://identifiers.org/clinvar/389905 ^@ NM_001103.3(ACTN2):c.2210A>C (p.Glu737Ala) http://identifiers.org/clinvar/389356 ^@ NM_000069.2(CACNA1S):c.915C>T (p.Ile305=) http://identifiers.org/clinvar/390793 ^@ NM_012414.3(RAB3GAP2):c.2778T>C (p.Ser926=) http://identifiers.org/clinvar/382171 ^@ NM_001103.3(ACTN2):c.2424C>T (p.Thr808=) http://identifiers.org/clinvar/382754 ^@ NM_000069.2(CACNA1S):c.708G>C (p.Thr236=) http://identifiers.org/clinvar/382420 ^@ NM_018060.3(IARS2):c.390+7A>G http://identifiers.org/clinvar/383514 ^@ NM_018060.3(IARS2):c.492A>G (p.Val164=) http://identifiers.org/clinvar/393062 ^@ NM_001103.3(ACTN2):c.2480C>G (p.Thr827Ser) http://identifiers.org/clinvar/388920 ^@ NM_000069.2(CACNA1S):c.208G>A (p.Val70Met) http://identifiers.org/clinvar/384276 ^@ NM_018060.3(IARS2):c.636C>T (p.Tyr212=) http://identifiers.org/clinvar/392325 ^@ NM_012414.3(RAB3GAP2):c.2461T>C (p.Trp821Arg) http://identifiers.org/clinvar/391084 ^@ NM_000254.2(MTR):c.2775+17G>T http://identifiers.org/clinvar/381453 ^@ NM_018060.3(IARS2):c.1564A>G (p.Ile522Val) http://identifiers.org/clinvar/392772 ^@ NM_003036.3(SKI):c.-42G>A http://identifiers.org/clinvar/379707 ^@ NM_018060.3(IARS2):c.2175+1G>A http://identifiers.org/clinvar/390597 ^@ NM_012414.3(RAB3GAP2):c.712+12G>T http://identifiers.org/clinvar/393061 ^@ NM_003036.3(SKI):c.-28G>T http://identifiers.org/clinvar/381031 ^@ NM_000254.2(MTR):c.3003A>T (p.Thr1001=) http://identifiers.org/clinvar/386838 ^@ NM_003036.3(SKI):c.105G>A (p.Pro35=) http://identifiers.org/clinvar/378742 ^@ NM_001001430.2(TNNT2):c.822-19C>T http://identifiers.org/clinvar/388701 ^@ NM_003036.3(SKI):c.702C>G (p.Pro234=) http://identifiers.org/clinvar/387170 ^@ NM_001001430.2(TNNT2):c.781-19C>G http://identifiers.org/clinvar/388144 ^@ NM_000254.2(MTR):c.3405+18C>T http://identifiers.org/clinvar/389960 ^@ NM_001001430.2(TNNT2):c.579+15C>T http://identifiers.org/clinvar/390745 ^@ NM_001001430.2(TNNT2):c.133+13T>C http://identifiers.org/clinvar/386778 ^@ NM_003036.3(SKI):c.-19G>A http://identifiers.org/clinvar/380753 ^@ NM_003036.3(SKI):c.897C>T (p.Arg299=) http://identifiers.org/clinvar/379217 ^@ NM_000975.3(RPL11):c.6+50G>T http://identifiers.org/clinvar/390432 ^@ NM_000975.3(RPL11):c.397-4A>G http://identifiers.org/clinvar/388703 ^@ NM_001001430.2(TNNT2):c.133+12G>T http://identifiers.org/clinvar/381998 ^@ NM_003036.3(SKI):c.768G>A (p.Pro256=) http://identifiers.org/clinvar/392683 ^@ NM_001035.2(RYR2):c.349C>T (p.His117Tyr) http://identifiers.org/clinvar/383283 ^@ NM_001001430.2(TNNT2):c.33C>T (p.Tyr11=) http://identifiers.org/clinvar/378740 ^@ NM_001001430.2(TNNT2):c.-15+10G>A http://identifiers.org/clinvar/384565 ^@ NM_005216.4(DDOST):c.1272G>A (p.Ser424=) http://identifiers.org/clinvar/387986 ^@ NM_005216.4(DDOST):c.1128T>C (p.Ser376=) http://identifiers.org/clinvar/384282 ^@ NM_001035.2(RYR2):c.463+9C>T http://identifiers.org/clinvar/388718 ^@ NM_001035.2(RYR2):c.510A>C (p.Ser170=) http://identifiers.org/clinvar/381719 ^@ NM_032890.3(DISP1):c.2202C>A (p.Tyr734Ter) http://identifiers.org/clinvar/377442 ^@ NM_020247.4(COQ8A):c.384C>T (p.Ala128=) http://identifiers.org/clinvar/391197 ^@ NM_013328.3(PYCR2):c.160C>T (p.Arg54Cys) http://identifiers.org/clinvar/377443 ^@ NM_020247.4(COQ8A):c.588+4C>T http://identifiers.org/clinvar/378485 ^@ NM_001035.2(RYR2):c.1292+19G>A http://identifiers.org/clinvar/386224 ^@ NM_001035.2(RYR2):c.2203+13C>T http://identifiers.org/clinvar/379964 ^@ NM_005216.4(DDOST):c.507+18C>T http://identifiers.org/clinvar/381846 ^@ NM_005216.4(DDOST):c.404-11G>C http://identifiers.org/clinvar/385330 ^@ NM_001035.2(RYR2):c.2538C>T (p.Tyr846=) http://identifiers.org/clinvar/393146 ^@ NM_001035.2(RYR2):c.3361G>C (p.Gly1121Arg) http://identifiers.org/clinvar/393188 ^@ NM_001035.2(RYR2):c.4307A>G (p.Gln1436Arg) http://identifiers.org/clinvar/378488 ^@ NM_001035.2(RYR2):c.4488C>T (p.Pro1496=) http://identifiers.org/clinvar/378489 ^@ NM_001035.2(RYR2):c.4911-19A>G http://identifiers.org/clinvar/377444 ^@ NM_020247.4(COQ8A):c.1020C>A (p.Ser340=) http://identifiers.org/clinvar/390262 ^@ NM_005216.4(DDOST):c.316+12G>A http://identifiers.org/clinvar/379807 ^@ NM_006147.3(IRF6):c.454C>T (p.Gln152Ter) http://identifiers.org/clinvar/379310 ^@ NM_006147.3(IRF6):c.352C>T (p.Gln118Ter) http://identifiers.org/clinvar/381662 ^@ NM_006147.3(IRF6):c.100A>G (p.Lys34Glu) http://identifiers.org/clinvar/389345 ^@ NM_001035.2(RYR2):c.5550G>A (p.Val1850=) http://identifiers.org/clinvar/381279 ^@ NM_020247.4(COQ8A):c.1399-14C>T http://identifiers.org/clinvar/381728 ^@ NM_020247.4(COQ8A):c.911C>T (p.Ala304Val) http://identifiers.org/clinvar/390693 ^@ NM_020247.4(COQ8A):c.1162+7G>C http://identifiers.org/clinvar/377447 ^@ NM_020247.4(COQ8A):c.1876C>T (p.Arg626Cys) http://identifiers.org/clinvar/379610 ^@ NM_014053.3(FLVCR1):c.1093-1G>A http://identifiers.org/clinvar/377448 ^@ NM_020247.4(COQ8A):c.*9G>A http://identifiers.org/clinvar/386099 ^@ NM_001035.2(RYR2):c.5802T>G (p.Ala1934=) http://identifiers.org/clinvar/382314 ^@ NM_000478.5(ALPL):c.40C>T (p.Leu14Phe) http://identifiers.org/clinvar/387853 ^@ NM_001035.2(RYR2):c.5917-12T>C http://identifiers.org/clinvar/386885 ^@ NM_020435.3(GJC2):c.417C>A (p.Ala139=) http://identifiers.org/clinvar/382018 ^@ NM_001035.2(RYR2):c.6166+10A>G http://identifiers.org/clinvar/391151 ^@ NM_020435.3(GJC2):c.740G>C (p.Arg247Pro) http://identifiers.org/clinvar/387919 ^@ NM_000478.5(ALPL):c.586G>A (p.Ala196Thr) http://identifiers.org/clinvar/391485 ^@ NM_020247.4(COQ8A):c.1198C>T (p.Arg400Trp) http://identifiers.org/clinvar/392980 ^@ NM_000478.5(ALPL):c.1004G>C (p.Arg335Thr) http://identifiers.org/clinvar/381923 ^@ NM_001035.2(RYR2):c.7299G>A (p.Val2433=) http://identifiers.org/clinvar/386767 ^@ NM_001035.2(RYR2):c.7887C>T (p.Asn2629=) http://identifiers.org/clinvar/384319 ^@ NM_206933.2(USH2A):c.6937G>T (p.Gly2313Cys) http://identifiers.org/clinvar/392320 ^@ NM_001035.2(RYR2):c.8696A>G (p.Asn2899Ser) http://identifiers.org/clinvar/382792 ^@ NM_001010867.3(IBA57):c.264C>G (p.Ala88=) http://identifiers.org/clinvar/377446 ^@ NM_020247.4(COQ8A):c.1824C>T (p.Ser608=) http://identifiers.org/clinvar/386018 ^@ NM_001035.2(RYR2):c.9603G>A (p.Val3201=) http://identifiers.org/clinvar/381641 ^@ NM_001100.3(ACTA1):c.616G>A (p.Ala206Thr) http://identifiers.org/clinvar/391572 ^@ NM_020435.3(GJC2):c.1123G>A (p.Val375Ile) http://identifiers.org/clinvar/380039 ^@ NM_001010867.3(IBA57):c.134G>C (p.Gly45Ala) http://identifiers.org/clinvar/392081 ^@ NM_001035.2(RYR2):c.10051G>A (p.Ala3351Thr) http://identifiers.org/clinvar/385811 ^@ NM_001010867.3(IBA57):c.162C>T (p.Asp54=) http://identifiers.org/clinvar/377433 ^@ NM_001100.3(ACTA1):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/384269 ^@ NM_003036.3(SKI):c.1041C>T (p.Ser347=) http://identifiers.org/clinvar/378492 ^@ NM_001035.2(RYR2):c.10143-19T>C http://identifiers.org/clinvar/382805 ^@ NM_001035.2(RYR2):c.10230+15A>G http://identifiers.org/clinvar/385546 ^@ NM_001035.2(RYR2):c.10551C>A (p.Gly3517=) http://identifiers.org/clinvar/381420 ^@ NM_001010867.3(IBA57):c.462C>T (p.His154=) http://identifiers.org/clinvar/381640 ^@ NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) http://identifiers.org/clinvar/380299 ^@ NM_206933.2(USH2A):c.2994-10T>G http://identifiers.org/clinvar/391175 ^@ NM_001035.2(RYR2):c.10554+16T>C http://identifiers.org/clinvar/390923 ^@ NM_003036.3(SKI):c.1096-6C>T http://identifiers.org/clinvar/386344 ^@ NM_001035.2(RYR2):c.10936-15T>A http://identifiers.org/clinvar/378723 ^@ NM_003238.4(TGFB2):c.-6T>A http://identifiers.org/clinvar/378493 ^@ NM_001035.2(RYR2):c.11402+6G>A http://identifiers.org/clinvar/380758 ^@ NM_001035.2(RYR2):c.12609G>A (p.Ala4203=) http://identifiers.org/clinvar/378724 ^@ NM_003238.4(TGFB2):c.347-14C>G http://identifiers.org/clinvar/382856 ^@ NM_001035.2(RYR2):c.12720G>C (p.Thr4240=) http://identifiers.org/clinvar/381047 ^@ NM_003238.4(TGFB2):c.603C>T (p.Phe201=) http://identifiers.org/clinvar/387428 ^@ NM_003238.4(TGFB2):c.773C>T (p.Thr258Ile) http://identifiers.org/clinvar/383632 ^@ NM_018060.3(IARS2):c.267+8C>A http://identifiers.org/clinvar/389122 ^@ NM_001100.3(ACTA1):c.575T>C (p.Met192Thr) http://identifiers.org/clinvar/385202 ^@ NM_001100.3(ACTA1):c.129+16C>T http://identifiers.org/clinvar/386624 ^@ NM_001035.2(RYR2):c.13428A>C (p.Pro4476=) http://identifiers.org/clinvar/387769 ^@ NM_001012985.2(COA6):c.36C>A (p.Arg12=) http://identifiers.org/clinvar/380560 ^@ NM_018060.3(IARS2):c.2691T>C (p.Asn897=) http://identifiers.org/clinvar/380024 ^@ NM_018060.3(IARS2):c.2896+12A>G http://identifiers.org/clinvar/390728 ^@ NM_001035.2(RYR2):c.13899C>T (p.Leu4633=) http://identifiers.org/clinvar/392508 ^@ NM_003036.3(SKI):c.1188C>T (p.His396=) http://identifiers.org/clinvar/378452 ^@ NM_012414.3(RAB3GAP2):c.1215C>T (p.Phe405=) http://identifiers.org/clinvar/380866 ^@ NM_012414.3(RAB3GAP2):c.961-14G>T http://identifiers.org/clinvar/388756 ^@ NM_001012985.2(COA6):c.104C>G (p.Pro35Arg) http://identifiers.org/clinvar/385331 ^@ NM_003036.3(SKI):c.147G>A (p.Lys49=) http://identifiers.org/clinvar/392009 ^@ NM_003036.3(SKI):c.1254C>T (p.Asn418=) http://identifiers.org/clinvar/386814 ^@ NM_001035.2(RYR2):c.14136C>A (p.Val4712=) http://identifiers.org/clinvar/390742 ^@ NM_003036.3(SKI):c.342G>T (p.Val114=) http://identifiers.org/clinvar/379193 ^@ NM_001035.2(RYR2):c.14152-15G>A http://identifiers.org/clinvar/391401 ^@ NM_001035.2(RYR2):c.14238T>C (p.Ile4746=) http://identifiers.org/clinvar/392074 ^@ NM_001035.2(RYR2):c.14306T>C (p.Leu4769Ser) http://identifiers.org/clinvar/393207 ^@ NM_003036.3(SKI):c.1786G>T (p.Val596Leu) http://identifiers.org/clinvar/389154 ^@ NM_003036.3(SKI):c.906C>T (p.Arg302=) http://identifiers.org/clinvar/382240 ^@ NM_001035.2(RYR2):c.14592T>C (p.Gly4864=) http://identifiers.org/clinvar/380182 ^@ NM_001012985.2(COA6):c.123-4A>G http://identifiers.org/clinvar/391410 ^@ NM_152490.4(B3GALNT2):c.1470G>C (p.Arg490=) http://identifiers.org/clinvar/382930 ^@ NM_152490.4(B3GALNT2):c.843A>G (p.Glu281=) http://identifiers.org/clinvar/384451 ^@ NM_003036.3(SKI):c.1863C>T (p.Ala621=) http://identifiers.org/clinvar/382367 ^@ NM_000191.2(HMGCL):c.393A>G (p.Ser131=) http://identifiers.org/clinvar/392924 ^@ NM_020247.4(COQ8A):c.830T>C (p.Leu277Pro) http://identifiers.org/clinvar/379797 ^@ NM_020247.4(COQ8A):c.1228C>T (p.Arg410Ter) http://identifiers.org/clinvar/386048 ^@ NM_003036.3(SKI):c.2184G>C (p.Pro728=) http://identifiers.org/clinvar/390423 ^@ NM_001010867.3(IBA57):c.300G>C (p.Leu100=) http://identifiers.org/clinvar/383970 ^@ NM_003036.3(SKI):c.*17C>T http://identifiers.org/clinvar/387370 ^@ NM_001010867.3(IBA57):c.471G>A (p.Leu157=) http://identifiers.org/clinvar/381639 ^@ NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) http://identifiers.org/clinvar/387738 ^@ NM_014236.3(GNPAT):c.405G>A (p.Ser135=) http://identifiers.org/clinvar/382100 ^@ NM_000191.2(HMGCL):c.-13A>G http://identifiers.org/clinvar/384641 ^@ NM_152490.4(B3GALNT2):c.651+5A>C http://identifiers.org/clinvar/387560 ^@ NM_001100.3(ACTA1):c.-4C>T http://identifiers.org/clinvar/381591 ^@ NM_000147.4(FUCA1):c.1034G>A (p.Gly345Glu) http://identifiers.org/clinvar/391147 ^@ NM_152490.4(B3GALNT2):c.737G>A (p.Gly246Glu) http://identifiers.org/clinvar/392801 ^@ NM_003036.3(SKI):c.1005A>G (p.Lys335=) http://identifiers.org/clinvar/390314 ^@ NM_001103.3(ACTN2):c.19G>A (p.Gly7Ser) http://identifiers.org/clinvar/389348 ^@ NM_003036.3(SKI):c.1068G>A (p.Leu356=) http://identifiers.org/clinvar/385791 ^@ NM_003036.3(SKI):c.1329C>T (p.Pro443=) http://identifiers.org/clinvar/389573 ^@ NM_001103.3(ACTN2):c.241+4G>A http://identifiers.org/clinvar/392178 ^@ NM_000143.3(FH):c.923C>G (p.Ala308Gly) http://identifiers.org/clinvar/381744 ^@ NM_001103.3(ACTN2):c.242-6C>T http://identifiers.org/clinvar/387397 ^@ NM_001103.3(ACTN2):c.1293G>A (p.Ser431=) http://identifiers.org/clinvar/385343 ^@ NM_001103.3(ACTN2):c.1698C>T (p.Pro566=) http://identifiers.org/clinvar/386896 ^@ NM_152490.4(B3GALNT2):c.466G>A (p.Val156Ile) http://identifiers.org/clinvar/391726 ^@ NM_014236.3(GNPAT):c.605G>A (p.Arg202Gln) http://identifiers.org/clinvar/377438 ^@ NM_001103.3(ACTN2):c.1974+10C>T http://identifiers.org/clinvar/383257 ^@ NM_152490.4(B3GALNT2):c.465C>T (p.Ile155=) http://identifiers.org/clinvar/382701 ^@ NM_000143.3(FH):c.431G>T (p.Gly144Val) http://identifiers.org/clinvar/387615 ^@ NM_001103.3(ACTN2):c.2446G>A (p.Asp816Asn) http://identifiers.org/clinvar/377439 ^@ NM_001103.3(ACTN2):c.2526+8T>C http://identifiers.org/clinvar/392659 ^@ NM_006642.3(SDCCAG8):c.244C>T (p.Arg82Cys) http://identifiers.org/clinvar/381812 ^@ NM_006642.3(SDCCAG8):c.1987C>T (p.Leu663=) http://identifiers.org/clinvar/384554 ^@ NM_000254.2(MTR):c.35-19A>G http://identifiers.org/clinvar/387204 ^@ NM_005465.4(AKT3):c.*7T>C http://identifiers.org/clinvar/388035 ^@ NM_152490.4(B3GALNT2):c.361+19T>C http://identifiers.org/clinvar/390834 ^@ NM_152490.4(B3GALNT2):c.276C>T (p.Phe92=) http://identifiers.org/clinvar/380009 ^@ NM_001012985.2(COA6):c.-206G>C http://identifiers.org/clinvar/391415 ^@ NM_152490.4(B3GALNT2):c.402C>T (p.Asp134=) http://identifiers.org/clinvar/384454 ^@ NM_001103.3(ACTN2):c.537-16C>T http://identifiers.org/clinvar/384482 ^@ NM_005465.4(AKT3):c.1163+17G>A http://identifiers.org/clinvar/377749 ^@ NM_198076.5(COX20):c.87C>T (p.Cys29=) http://identifiers.org/clinvar/389619 ^@ NM_198076.5(COX20):c.234G>A (p.Arg78=) http://identifiers.org/clinvar/391043 ^@ NM_000254.2(MTR):c.108G>A (p.Gly36=) http://identifiers.org/clinvar/386430 ^@ NM_000254.2(MTR):c.639T>C (p.Phe213=) http://identifiers.org/clinvar/389888 ^@ NM_001103.3(ACTN2):c.770C>T (p.Ala257Val) http://identifiers.org/clinvar/387066 ^@ NM_000254.2(MTR):c.764+6T>C http://identifiers.org/clinvar/384968 ^@ NM_001103.3(ACTN2):c.1295C>T (p.Ala432Val) http://identifiers.org/clinvar/389998 ^@ NM_000254.2(MTR):c.2622G>A (p.Pro874=) http://identifiers.org/clinvar/384486 ^@ NM_152490.4(B3GALNT2):c.258A>G (p.Gln86=) http://identifiers.org/clinvar/390168 ^@ NM_152490.4(B3GALNT2):c.249A>T (p.Thr83=) http://identifiers.org/clinvar/388486 ^@ NM_001103.3(ACTN2):c.1425C>T (p.Asp475=) http://identifiers.org/clinvar/385340 ^@ NM_152490.4(B3GALNT2):c.225G>A (p.Met75Ile) http://identifiers.org/clinvar/382363 ^@ NM_000254.2(MTR):c.3516C>T (p.Arg1172=) http://identifiers.org/clinvar/393082 ^@ NM_004895.4(NLRP3):c.925G>C (p.Gly309Arg) http://identifiers.org/clinvar/385044 ^@ NM_004895.4(NLRP3):c.1323G>A (p.Ala441=) http://identifiers.org/clinvar/382357 ^@ NM_001035.2(RYR2):c.2203+4C>T http://identifiers.org/clinvar/386223 ^@ NM_001035.2(RYR2):c.3067-15T>C http://identifiers.org/clinvar/390332 ^@ NM_001103.3(ACTN2):c.1557G>A (p.Leu519=) http://identifiers.org/clinvar/385271 ^@ NM_152490.4(B3GALNT2):c.81G>T (p.Pro27=) http://identifiers.org/clinvar/387555 ^@ NM_020451.2(SELENON):c.301+18C>T http://identifiers.org/clinvar/382647 ^@ NM_001103.3(ACTN2):c.1656+12G>T http://identifiers.org/clinvar/391417 ^@ NM_001103.3(ACTN2):c.1749G>A (p.Glu583=) http://identifiers.org/clinvar/388585 ^@ NM_020451.2(SELENON):c.1092+16G>C http://identifiers.org/clinvar/387741 ^@ NM_006015.4(ARID1A):c.111C>T (p.Gly37=) http://identifiers.org/clinvar/384453 ^@ NM_001035.2(RYR2):c.3423+6T>G http://identifiers.org/clinvar/388854 ^@ NM_001103.3(ACTN2):c.509A>G (p.Asn170Ser) http://identifiers.org/clinvar/389941 ^@ NM_001103.3(ACTN2):c.537-14C>T http://identifiers.org/clinvar/390569 ^@ NM_001035.2(RYR2):c.3486G>A (p.Val1162=) http://identifiers.org/clinvar/379513 ^@ NM_001103.3(ACTN2):c.1108-5C>T http://identifiers.org/clinvar/385789 ^@ NM_001103.3(ACTN2):c.1215G>A (p.Lys405=) http://identifiers.org/clinvar/388855 ^@ NM_001103.3(ACTN2):c.2054T>C (p.Ile685Thr) http://identifiers.org/clinvar/377497 ^@ NM_006015.4(ARID1A):c.670C>G (p.Pro224Ala) http://identifiers.org/clinvar/388434 ^@ NM_017837.3(PIGV):c.183C>T (p.Gly61=) http://identifiers.org/clinvar/391278 ^@ NM_001103.3(ACTN2):c.1263G>A (p.Glu421=) http://identifiers.org/clinvar/387114 ^@ NM_017837.3(PIGV):c.390T>C (p.Ala130=) http://identifiers.org/clinvar/390958 ^@ NM_017837.3(PIGV):c.735G>A (p.Val245=) http://identifiers.org/clinvar/382355 ^@ NM_001035.2(RYR2):c.4845A>G (p.Gln1615=) http://identifiers.org/clinvar/384960 ^@ NM_017837.3(PIGV):c.1452C>G (p.Leu484=) http://identifiers.org/clinvar/382575 ^@ NM_000254.2(MTR):c.609+1092G>A http://identifiers.org/clinvar/381202 ^@ NM_000254.2(MTR):c.669+20C>T http://identifiers.org/clinvar/380596 ^@ NM_000254.2(MTR):c.1075+7C>T http://identifiers.org/clinvar/389339 ^@ NM_001035.2(RYR2):c.5199G>A (p.Thr1733=) http://identifiers.org/clinvar/382427 ^@ NM_000254.2(MTR):c.1076-11C>T http://identifiers.org/clinvar/389997 ^@ NM_000254.2(MTR):c.1953+7A>G http://identifiers.org/clinvar/387526 ^@ NM_001029882.3(AHDC1):c.4369G>A (p.Asp1457Asn) http://identifiers.org/clinvar/384525 ^@ NM_001029882.3(AHDC1):c.2374G>C (p.Gly792Arg) http://identifiers.org/clinvar/389742 ^@ NM_000254.2(MTR):c.609+10G>A http://identifiers.org/clinvar/382042 ^@ NM_000254.2(MTR):c.1977A>G (p.Lys659=) http://identifiers.org/clinvar/389743 ^@ NM_000254.2(MTR):c.2196+19G>T http://identifiers.org/clinvar/381724 ^@ NM_001029882.3(AHDC1):c.1459C>T (p.Arg487Trp) http://identifiers.org/clinvar/390159 ^@ NM_003680.3(YARS):c.685-16G>A http://identifiers.org/clinvar/378884 ^@ NM_000254.2(MTR):c.2474-18T>A http://identifiers.org/clinvar/387230 ^@ NM_003680.3(YARS):c.205-17C>A http://identifiers.org/clinvar/382103 ^@ NM_000254.2(MTR):c.2910G>A (p.Val970=) http://identifiers.org/clinvar/380095 ^@ NM_000254.2(MTR):c.3599-18C>T http://identifiers.org/clinvar/386439 ^@ NM_000254.2(MTR):c.3636T>C (p.Ala1212=) http://identifiers.org/clinvar/382756 ^@ NM_003680.3(YARS):c.57+16T>C http://identifiers.org/clinvar/382289 ^@ NM_001035.2(RYR2):c.7689A>G (p.Lys2563=) http://identifiers.org/clinvar/381208 ^@ NM_022114.3(PRDM16):c.677-16G>A http://identifiers.org/clinvar/390280 ^@ NM_000254.2(MTR):c.3711+8A>C http://identifiers.org/clinvar/390734 ^@ NM_001035.2(RYR2):c.-46G>A http://identifiers.org/clinvar/392349 ^@ NM_001035.2(RYR2):c.96A>G (p.Gln32=) http://identifiers.org/clinvar/387957 ^@ NM_001035.2(RYR2):c.-30G>C http://identifiers.org/clinvar/391408 ^@ NM_022114.3(PRDM16):c.885-5C>T http://identifiers.org/clinvar/381331 ^@ NM_001035.2(RYR2):c.8734C>T (p.Leu2912=) http://identifiers.org/clinvar/392339 ^@ NM_022114.3(PRDM16):c.1930G>A (p.Glu644Lys) http://identifiers.org/clinvar/387948 ^@ NM_001035.2(RYR2):c.49-9C>G http://identifiers.org/clinvar/385975 ^@ NM_001035.2(RYR2):c.219C>T (p.Leu73=) http://identifiers.org/clinvar/381149 ^@ NM_001035.2(RYR2):c.9351C>T (p.Phe3117=) http://identifiers.org/clinvar/391905 ^@ NM_022114.3(PRDM16):c.1965C>A (p.Pro655=) http://identifiers.org/clinvar/387165 ^@ NM_001035.2(RYR2):c.10257C>T (p.Phe3419=) http://identifiers.org/clinvar/378482 ^@ NM_001035.2(RYR2):c.273+18G>A http://identifiers.org/clinvar/391055 ^@ NM_022114.3(PRDM16):c.2172G>A (p.Ala724=) http://identifiers.org/clinvar/384576 ^@ NM_001035.2(RYR2):c.10899A>G (p.Glu3633=) http://identifiers.org/clinvar/383211 ^@ NM_001035.2(RYR2):c.13261-18C>T http://identifiers.org/clinvar/390010 ^@ NM_022114.3(PRDM16):c.2406G>A (p.Pro802=) http://identifiers.org/clinvar/390770 ^@ NM_001035.2(RYR2):c.14000G>T (p.Ser4667Ile) http://identifiers.org/clinvar/389898 ^@ NM_022114.3(PRDM16):c.*2G>A http://identifiers.org/clinvar/388188 ^@ NM_001035.2(RYR2):c.1005+7C>T http://identifiers.org/clinvar/378484 ^@ NM_001035.2(RYR2):c.1110A>G (p.Leu370=) http://identifiers.org/clinvar/384112 ^@ NM_001035.2(RYR2):c.1170+11A>T http://identifiers.org/clinvar/386668 ^@ NM_012199.4(AGO1):c.73C>G (p.Arg25Gly) http://identifiers.org/clinvar/378495 ^@ NM_001035.2(RYR2):c.14808+17A>C http://identifiers.org/clinvar/386558 ^@ NM_005465.4(AKT3):c.820-18A>G http://identifiers.org/clinvar/380175 ^@ NM_017646.5(TRIT1):c.606T>A (p.Phe202Leu) http://identifiers.org/clinvar/383921 ^@ NM_017646.5(TRIT1):c.414+18G>A http://identifiers.org/clinvar/378483 ^@ NM_001035.2(RYR2):c.385-9A>C http://identifiers.org/clinvar/380144 ^@ NM_017646.5(TRIT1):c.33C>T (p.Pro11=) http://identifiers.org/clinvar/389545 ^@ NM_001035.2(RYR2):c.464-12G>A http://identifiers.org/clinvar/383262 ^@ NM_000310.3(PPT1):c.474C>T (p.His158=) http://identifiers.org/clinvar/387553 ^@ NM_005465.4(AKT3):c.273T>C (p.Thr91=) http://identifiers.org/clinvar/389900 ^@ NM_001035.2(RYR2):c.2632C>T (p.Leu878=) http://identifiers.org/clinvar/385196 ^@ NM_001035.2(RYR2):c.1828-10C>A http://identifiers.org/clinvar/391863 ^@ NM_001852.3(COL9A2):c.847-8C>T http://identifiers.org/clinvar/389196 ^@ NM_198076.5(COX20):c.-38C>T http://identifiers.org/clinvar/378486 ^@ NM_001035.2(RYR2):c.3024G>A (p.Ala1008=) http://identifiers.org/clinvar/386593 ^@ NM_198076.5(COX20):c.342C>T (p.Gly114=) http://identifiers.org/clinvar/378487 ^@ NM_001035.2(RYR2):c.3729A>C (p.Thr1243=) http://identifiers.org/clinvar/387848 ^@ NM_001035.2(RYR2):c.4368C>G (p.Gly1456=) http://identifiers.org/clinvar/391544 ^@ NM_001852.3(COL9A2):c.577-18C>T http://identifiers.org/clinvar/389344 ^@ NM_001035.2(RYR2):c.4437-14C>G http://identifiers.org/clinvar/388805 ^@ NM_001035.2(RYR2):c.4785G>A (p.Leu1595=) http://identifiers.org/clinvar/379445 ^@ NM_022356.3(P3H1):c.2055+17C>T http://identifiers.org/clinvar/386065 ^@ NM_001035.2(RYR2):c.6468C>T (p.Tyr2156=) http://identifiers.org/clinvar/381484 ^@ NM_001035.2(RYR2):c.6504C>G (p.His2168Gln) http://identifiers.org/clinvar/379263 ^@ NM_001035.2(RYR2):c.2544C>T (p.Arg848=) http://identifiers.org/clinvar/386615 ^@ NM_004895.4(NLRP3):c.201G>A (p.Ala67=) http://identifiers.org/clinvar/380604 ^@ NM_001035.2(RYR2):c.8287T>C (p.Leu2763=) http://identifiers.org/clinvar/389188 ^@ NM_004895.4(NLRP3):c.912C>T (p.Phe304=) http://identifiers.org/clinvar/380728 ^@ NM_001035.2(RYR2):c.8331A>G (p.Glu2777=) http://identifiers.org/clinvar/389680 ^@ NM_004895.4(NLRP3):c.2178T>A (p.Thr726=) http://identifiers.org/clinvar/379511 ^@ NM_020451.2(SELENON):c.-1C>T http://identifiers.org/clinvar/379367 ^@ NM_001035.2(RYR2):c.2745C>T (p.His915=) http://identifiers.org/clinvar/383845 ^@ NM_001035.2(RYR2):c.9368-12C>T http://identifiers.org/clinvar/381914 ^@ NM_001035.2(RYR2):c.2808G>A (p.Ser936=) http://identifiers.org/clinvar/388454 ^@ NM_020451.2(SELENON):c.171G>A (p.Ala57=) http://identifiers.org/clinvar/384704 ^@ NM_001035.2(RYR2):c.5664G>C (p.Arg1888=) http://identifiers.org/clinvar/385998 ^@ NM_020451.2(SELENON):c.748-9C>T http://identifiers.org/clinvar/386781 ^@ NM_022356.3(P3H1):c.1716C>T (p.Ile572=) http://identifiers.org/clinvar/387904 ^@ NM_022356.3(P3H1):c.1473+5G>T http://identifiers.org/clinvar/392485 ^@ NM_001035.2(RYR2):c.6265C>T (p.His2089Tyr) http://identifiers.org/clinvar/387716 ^@ NM_001035.2(RYR2):c.6958G>A (p.Val2320Met) http://identifiers.org/clinvar/379643 ^@ NM_022356.3(P3H1):c.1233G>A (p.Arg411=) http://identifiers.org/clinvar/379768 ^@ NM_022356.3(P3H1):c.1026C>T (p.Ala342=) http://identifiers.org/clinvar/385519 ^@ NM_001035.2(RYR2):c.7158C>T (p.Asn2386=) http://identifiers.org/clinvar/386219 ^@ NM_001035.2(RYR2):c.7284C>T (p.Pro2428=) http://identifiers.org/clinvar/389151 ^@ NM_022356.3(P3H1):c.619-5A>C http://identifiers.org/clinvar/387431 ^@ NM_001035.2(RYR2):c.9996G>A (p.Thr3332=) http://identifiers.org/clinvar/383847 ^@ NM_001035.2(RYR2):c.10014C>T (p.Asp3338=) http://identifiers.org/clinvar/380239 ^@ NM_020451.2(SELENON):c.1162A>G (p.Ser388Gly) http://identifiers.org/clinvar/378490 ^@ NM_001035.2(RYR2):c.7824+20G>A http://identifiers.org/clinvar/379443 ^@ NM_022356.3(P3H1):c.139G>T (p.Ala47Ser) http://identifiers.org/clinvar/386829 ^@ NM_001035.2(RYR2):c.9144T>A (p.Thr3048=) http://identifiers.org/clinvar/380465 ^@ NM_022356.3(P3H1):c.-45C>T http://identifiers.org/clinvar/378608 ^@ NM_006516.2(SLC2A1):c.680-6C>T http://identifiers.org/clinvar/393056 ^@ NM_001035.2(RYR2):c.12245A>C (p.Glu4082Ala) http://identifiers.org/clinvar/392030 ^@ NM_006516.2(SLC2A1):c.624C>G (p.Pro208=) http://identifiers.org/clinvar/383990 ^@ NM_020451.2(SELENON):c.1638C>T (p.Ile546=) http://identifiers.org/clinvar/378601 ^@ NM_006516.2(SLC2A1):c.-41C>T http://identifiers.org/clinvar/388328 ^@ NM_020451.2(SELENON):c.1644C>T (p.Ser548=) http://identifiers.org/clinvar/386483 ^@ NM_006015.4(ARID1A):c.3715+5C>T http://identifiers.org/clinvar/393109 ^@ NM_017837.3(PIGV):c.5G>C (p.Trp2Ser) http://identifiers.org/clinvar/383006 ^@ NM_001128425.1(MUTYH):c.1323+16A>G http://identifiers.org/clinvar/379026 ^@ NM_001035.2(RYR2):c.9318T>A (p.Ser3106=) http://identifiers.org/clinvar/383576 ^@ NM_001128425.1(MUTYH):c.1164G>A (p.Leu388=) http://identifiers.org/clinvar/390654 ^@ NM_017837.3(PIGV):c.111T>C (p.His37=) http://identifiers.org/clinvar/392085 ^@ NM_017837.3(PIGV):c.452C>G (p.Ala151Gly) http://identifiers.org/clinvar/384534 ^@ NM_001128425.1(MUTYH):c.957C>T (p.Ala319=) http://identifiers.org/clinvar/378491 ^@ NM_001035.2(RYR2):c.9580+9G>A http://identifiers.org/clinvar/389627 ^@ NM_001035.2(RYR2):c.10143-11A>T http://identifiers.org/clinvar/384668 ^@ NM_001128425.1(MUTYH):c.693A>G (p.Ala231=) http://identifiers.org/clinvar/386326 ^@ NM_001128425.1(MUTYH):c.157+9C>A http://identifiers.org/clinvar/387463 ^@ NM_015506.2(MMACHC):c.276+17T>A http://identifiers.org/clinvar/388043 ^@ NM_017837.3(PIGV):c.783C>T (p.Thr261=) http://identifiers.org/clinvar/392515 ^@ NM_001035.2(RYR2):c.14372A>T (p.Lys4791Ile) http://identifiers.org/clinvar/390678 ^@ NM_017739.3(POMGNT1):c.1569C>T (p.Asn523=) http://identifiers.org/clinvar/390756 ^@ NM_001035.2(RYR2):c.11054A>T (p.Asp3685Val) http://identifiers.org/clinvar/388228 ^@ NM_001035.2(RYR2):c.11775+5A>G http://identifiers.org/clinvar/384558 ^@ NM_001035.2(RYR2):c.14406A>G (p.Pro4802=) http://identifiers.org/clinvar/384150 ^@ NM_017739.3(POMGNT1):c.1560C>T (p.His520=) http://identifiers.org/clinvar/380396 ^@ NM_001035.2(RYR2):c.14152-16C>G http://identifiers.org/clinvar/386102 ^@ NM_001035.2(RYR2):c.14694C>T (p.Phe4898=) http://identifiers.org/clinvar/390136 ^@ NM_022114.3(PRDM16):c.21G>A (p.Ala7=) http://identifiers.org/clinvar/392769 ^@ NM_001035.2(RYR2):c.14695G>C (p.Asp4899His) http://identifiers.org/clinvar/390875 ^@ NM_017739.3(POMGNT1):c.1212-4T>G http://identifiers.org/clinvar/388977 ^@ NM_001035.2(RYR2):c.14756+3G>A http://identifiers.org/clinvar/390299 ^@ NM_017739.3(POMGNT1):c.1173T>C (p.Val391=) http://identifiers.org/clinvar/387862 ^@ NM_017739.3(POMGNT1):c.534+15C>T http://identifiers.org/clinvar/388234 ^@ NM_022114.3(PRDM16):c.2448C>T (p.Asn816=) http://identifiers.org/clinvar/378494 ^@ NM_001035.2(RYR2):c.14757-19A>G http://identifiers.org/clinvar/385155 ^@ NM_000191.2(HMGCL):c.561+20C>G http://identifiers.org/clinvar/392369 ^@ NM_022114.3(PRDM16):c.2940-18C>T http://identifiers.org/clinvar/392733 ^@ NM_017739.3(POMGNT1):c.507C>T (p.Pro169=) http://identifiers.org/clinvar/384626 ^@ NM_017739.3(POMGNT1):c.314C>G (p.Ser105Ter) http://identifiers.org/clinvar/382574 ^@ NM_001035.2(RYR2):c.14757-19A>C http://identifiers.org/clinvar/387964 ^@ NM_000191.2(HMGCL):c.498-10C>A http://identifiers.org/clinvar/386315 ^@ NM_022114.3(PRDM16):c.2940-17G>A http://identifiers.org/clinvar/390334 ^@ NM_022114.3(PRDM16):c.3696+11G>A http://identifiers.org/clinvar/386083 ^@ NM_000191.2(HMGCL):c.145-13C>T http://identifiers.org/clinvar/385719 ^@ NM_003035.2(STIL):c.2877G>A (p.Pro959=) http://identifiers.org/clinvar/392129 ^@ NM_000191.2(HMGCL):c.145-8C>T http://identifiers.org/clinvar/382366 ^@ NM_000191.2(HMGCL):c.61-17C>T http://identifiers.org/clinvar/391798 ^@ NM_000191.2(HMGCL):c.84T>C (p.Thr28=) http://identifiers.org/clinvar/384978 ^@ NM_152268.3(PARS2):c.1254C>T (p.Ile418=) http://identifiers.org/clinvar/390255 ^@ NM_000143.3(FH):c.907T>G (p.Leu303Val) http://identifiers.org/clinvar/392846 ^@ NM_006642.3(SDCCAG8):c.1276A>G (p.Thr426Ala) http://identifiers.org/clinvar/379909 ^@ NM_000310.3(PPT1):c.740A>G (p.Tyr247Cys) http://identifiers.org/clinvar/389251 ^@ NM_057176.2(BSND):c.575C>A (p.Ala192Asp) http://identifiers.org/clinvar/385640 ^@ NM_000310.3(PPT1):c.43C>T (p.Leu15=) http://identifiers.org/clinvar/388027 ^@ NM_005465.4(AKT3):c.948+14C>G http://identifiers.org/clinvar/389504 ^@ NM_005465.4(AKT3):c.6C>T (p.Ser2=) http://identifiers.org/clinvar/388641 ^@ NM_000143.3(FH):c.1061G>A (p.Gly354Glu) http://identifiers.org/clinvar/391192 ^@ NM_001852.3(COL9A2):c.-32C>T http://identifiers.org/clinvar/386349 ^@ NM_013339.3(ALG6):c.902+19G>A http://identifiers.org/clinvar/388635 ^@ NM_013339.3(ALG6):c.1128-18A>T http://identifiers.org/clinvar/388299 ^@ NM_005465.4(AKT3):c.-43A>G http://identifiers.org/clinvar/379647 ^@ NM_198076.5(COX20):c.-10A>T http://identifiers.org/clinvar/383939 ^@ NM_198076.5(COX20):c.340G>A (p.Gly114Ser) http://identifiers.org/clinvar/383480 ^@ NM_198076.5(COX20):c.-39C>G http://identifiers.org/clinvar/384510 ^@ NM_031844.2(HNRNPU):c.1167C>T (p.Cys389=) http://identifiers.org/clinvar/383938 ^@ NM_198076.5(COX20):c.41A>G (p.Lys14Arg) http://identifiers.org/clinvar/380082 ^@ NM_198076.5(COX20):c.157+3G>C http://identifiers.org/clinvar/388930 ^@ NM_022356.3(P3H1):c.2115C>T (p.Leu705=) http://identifiers.org/clinvar/382376 ^@ NM_198076.5(COX20):c.222-3A>C http://identifiers.org/clinvar/380085 ^@ NM_013339.3(ALG6):c.1357C>G (p.Leu453Val) http://identifiers.org/clinvar/392665 ^@ NM_031844.2(HNRNPU):c.353C>A (p.Ser118Ter) http://identifiers.org/clinvar/379771 ^@ NM_022356.3(P3H1):c.1812C>T (p.Pro604=) http://identifiers.org/clinvar/387642 ^@ NM_002633.2(PGM1):c.249C>T (p.Ile83=) http://identifiers.org/clinvar/380686 ^@ NM_004895.4(NLRP3):c.255G>A (p.Glu85=) http://identifiers.org/clinvar/388518 ^@ NM_004895.4(NLRP3):c.624G>A (p.Leu208=) http://identifiers.org/clinvar/392374 ^@ NM_004895.4(NLRP3):c.2157-16T>A http://identifiers.org/clinvar/386433 ^@ NM_002633.2(PGM1):c.1600-527C>T http://identifiers.org/clinvar/384517 ^@ NM_020451.2(SELENON):c.9G>C (p.Arg3=) http://identifiers.org/clinvar/379770 ^@ NM_022356.3(P3H1):c.1569+3A>G http://identifiers.org/clinvar/385142 ^@ NM_020451.2(SELENON):c.183+11G>A http://identifiers.org/clinvar/385285 ^@ NM_020451.2(SELENON):c.693C>T (p.Phe231=) http://identifiers.org/clinvar/382548 ^@ NM_031475.2(ESPN):c.1917C>T (p.Ser639=) http://identifiers.org/clinvar/391775 ^@ NM_020631.4(PLEKHG5):c.3011+9C>T http://identifiers.org/clinvar/380622 ^@ NM_020631.4(PLEKHG5):c.2751G>A (p.Gln917=) http://identifiers.org/clinvar/389945 ^@ NM_020451.2(SELENON):c.1455C>T (p.Ser485=) http://identifiers.org/clinvar/389493 ^@ NM_006015.4(ARID1A):c.1649C>A (p.Pro550His) http://identifiers.org/clinvar/379444 ^@ NM_022356.3(P3H1):c.1045G>A (p.Gly349Arg) http://identifiers.org/clinvar/389931 ^@ NM_020631.4(PLEKHG5):c.2691C>G (p.Ala897=) http://identifiers.org/clinvar/388918 ^@ NM_017837.3(PIGV):c.258C>T (p.Ala86=) http://identifiers.org/clinvar/384612 ^@ NM_020631.4(PLEKHG5):c.2581C>T (p.Arg861Cys) http://identifiers.org/clinvar/378614 ^@ NM_006516.2(SLC2A1):c.*3C>T http://identifiers.org/clinvar/385221 ^@ NM_020631.4(PLEKHG5):c.2424G>A (p.Val808=) http://identifiers.org/clinvar/390910 ^@ NM_020631.4(PLEKHG5):c.1914C>T (p.Cys638=) http://identifiers.org/clinvar/378378 ^@ NM_020631.4(PLEKHG5):c.1724C>T (p.Pro575Leu) http://identifiers.org/clinvar/389525 ^@ NM_020631.4(PLEKHG5):c.1530C>T (p.Ala510=) http://identifiers.org/clinvar/384974 ^@ NM_017837.3(PIGV):c.600T>C (p.Thr200=) http://identifiers.org/clinvar/383454 ^@ NM_006516.2(SLC2A1):c.1148C>T (p.Pro383Leu) http://identifiers.org/clinvar/391459 ^@ NM_006516.2(SLC2A1):c.1074+13G>A http://identifiers.org/clinvar/383605 ^@ NM_006516.2(SLC2A1):c.945C>T (p.Ile315=) http://identifiers.org/clinvar/392397 ^@ NM_020631.4(PLEKHG5):c.1023G>A (p.Val341=) http://identifiers.org/clinvar/387295 ^@ NM_020451.2(SELENON):c.1500+7G>A http://identifiers.org/clinvar/384827 ^@ NM_020631.4(PLEKHG5):c.783C>T (p.Ser261=) http://identifiers.org/clinvar/378365 ^@ NM_017837.3(PIGV):c.638T>C (p.Leu213Pro) http://identifiers.org/clinvar/386160 ^@ NM_020631.4(PLEKHG5):c.639G>A (p.Ala213=) http://identifiers.org/clinvar/386753 ^@ NM_020631.4(PLEKHG5):c.210+20C>T http://identifiers.org/clinvar/381312 ^@ NM_020631.4(PLEKHG5):c.186G>A (p.Lys62=) http://identifiers.org/clinvar/384478 ^@ NM_006516.2(SLC2A1):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/378605 ^@ NM_006516.2(SLC2A1):c.343C>T (p.Leu115=) http://identifiers.org/clinvar/379359 ^@ NM_006015.4(ARID1A):c.1390C>T (p.Gln464Ter) http://identifiers.org/clinvar/378366 ^@ NM_017837.3(PIGV):c.872A>G (p.Asn291Ser) http://identifiers.org/clinvar/378604 ^@ NM_006516.2(SLC2A1):c.276-8G>A http://identifiers.org/clinvar/389879 ^@ NM_006015.4(ARID1A):c.1787G>A (p.Arg596His) http://identifiers.org/clinvar/379806 ^@ NM_006015.4(ARID1A):c.5753G>A (p.Arg1918Gln) http://identifiers.org/clinvar/393197 ^@ NM_017837.3(PIGV):c.94A>G (p.Ile32Val) http://identifiers.org/clinvar/391180 ^@ NM_020631.4(PLEKHG5):c.150-11C>A http://identifiers.org/clinvar/382935 ^@ NM_017837.3(PIGV):c.615C>T (p.Asn205=) http://identifiers.org/clinvar/384153 ^@ NM_017837.3(PIGV):c.879G>A (p.Pro293=) http://identifiers.org/clinvar/389464 ^@ NM_001029882.3(AHDC1):c.607G>C (p.Glu203Gln) http://identifiers.org/clinvar/391065 ^@ NM_001856.3(COL16A1):c.4102-6T>C http://identifiers.org/clinvar/391742 ^@ NM_022114.3(PRDM16):c.347T>C (p.Val116Ala) http://identifiers.org/clinvar/388573 ^@ NM_020631.4(PLEKHG5):c.-73C>T http://identifiers.org/clinvar/377419 ^@ NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) http://identifiers.org/clinvar/392105 ^@ NM_003680.3(YARS):c.1154A>C (p.Asp385Ala) http://identifiers.org/clinvar/384994 ^@ NM_000016.5(ACADM):c.1194+11A>G http://identifiers.org/clinvar/383817 ^@ NM_003680.3(YARS):c.1128C>T (p.Ile376=) http://identifiers.org/clinvar/388182 ^@ NM_144573.3(NEXN):c.1890T>C (p.Tyr630=) http://identifiers.org/clinvar/391219 ^@ NM_003680.3(YARS):c.1008G>A (p.Leu336=) http://identifiers.org/clinvar/392635 ^@ NM_003680.3(YARS):c.-28G>A http://identifiers.org/clinvar/378603 ^@ NM_006516.2(SLC2A1):c.276-11C>T http://identifiers.org/clinvar/384500 ^@ NM_006516.2(SLC2A1):c.275+17C>T http://identifiers.org/clinvar/391177 ^@ NM_022114.3(PRDM16):c.488C>T (p.Ala163Val) http://identifiers.org/clinvar/377410 ^@ NM_000350.2(ABCA4):c.6498C>T (p.Ile2166=) http://identifiers.org/clinvar/377408 ^@ NM_000350.2(ABCA4):c.5898+1G>A http://identifiers.org/clinvar/389313 ^@ NM_003680.3(YARS):c.381-6C>T http://identifiers.org/clinvar/378602 ^@ NM_006516.2(SLC2A1):c.18G>A (p.Lys6=) http://identifiers.org/clinvar/379739 ^@ NM_015284.3(SZT2):c.1770-11C>T http://identifiers.org/clinvar/383346 ^@ NM_000350.2(ABCA4):c.5659G>A (p.Val1887Met) http://identifiers.org/clinvar/390967 ^@ NM_022114.3(PRDM16):c.1797G>A (p.Ser599=) http://identifiers.org/clinvar/381194 ^@ NM_022114.3(PRDM16):c.2603+20C>T http://identifiers.org/clinvar/390108 ^@ NM_022114.3(PRDM16):c.2692-10A>G http://identifiers.org/clinvar/390391 ^@ NM_001128425.1(MUTYH):c.1323+4A>C http://identifiers.org/clinvar/391256 ^@ NM_024009.2(GJB3):c.334C>A (p.Gln112Lys) http://identifiers.org/clinvar/390179 ^@ NM_022114.3(PRDM16):c.2691+5G>A http://identifiers.org/clinvar/382716 ^@ NM_001128425.1(MUTYH):c.1239G>A (p.Glu413=) http://identifiers.org/clinvar/390260 ^@ NM_017646.5(TRIT1):c.1007-20C>T http://identifiers.org/clinvar/390669 ^@ NM_000310.3(PPT1):c.362+18A>T http://identifiers.org/clinvar/386694 ^@ NM_001128425.1(MUTYH):c.1186+18G>A http://identifiers.org/clinvar/391715 ^@ NM_001128425.1(MUTYH):c.998-18G>A http://identifiers.org/clinvar/382693 ^@ NM_000310.3(PPT1):c.198C>T (p.Tyr66=) http://identifiers.org/clinvar/390592 ^@ NM_000310.3(PPT1):c.125-5G>A http://identifiers.org/clinvar/377405 ^@ NM_000350.2(ABCA4):c.5282C>G (p.Pro1761Arg) http://identifiers.org/clinvar/387934 ^@ NM_000350.2(ABCA4):c.4753C>T (p.Arg1585Trp) http://identifiers.org/clinvar/379422 ^@ NM_022356.3(P3H1):c.1915-20T>G http://identifiers.org/clinvar/383345 ^@ NM_000350.2(ABCA4):c.4129-16G>A http://identifiers.org/clinvar/378184 ^@ NM_001128425.1(MUTYH):c.788+9T>C http://identifiers.org/clinvar/389679 ^@ NM_000350.2(ABCA4):c.2537A>T (p.Asp846Val) http://identifiers.org/clinvar/377403 ^@ NM_000350.2(ABCA4):c.1919C>T (p.Pro640Leu) http://identifiers.org/clinvar/380195 ^@ NM_017646.5(TRIT1):c.1098C>T (p.Ile366=) http://identifiers.org/clinvar/379421 ^@ NM_022356.3(P3H1):c.1647G>A (p.Met549Ile) http://identifiers.org/clinvar/386695 ^@ NM_001128425.1(MUTYH):c.690+12G>T http://identifiers.org/clinvar/391452 ^@ NM_006516.2(SLC2A1):c.1410G>A (p.Gly470=) http://identifiers.org/clinvar/377401 ^@ NM_000350.2(ABCA4):c.618C>T (p.Ser206=) http://identifiers.org/clinvar/389968 ^@ NM_144988.3(ALG14):c.220G>A (p.Asp74Asn) http://identifiers.org/clinvar/379035 ^@ NM_001128425.1(MUTYH):c.678C>T (p.Ile226=) http://identifiers.org/clinvar/379599 ^@ NM_001128425.1(MUTYH):c.463-1G>A http://identifiers.org/clinvar/387248 ^@ NM_000310.3(PPT1):c.390A>G (p.Ser130=) http://identifiers.org/clinvar/390702 ^@ NM_144988.3(ALG14):c.179C>G (p.Ser60Cys) http://identifiers.org/clinvar/381227 ^@ NM_001128425.1(MUTYH):c.336A>G (p.Pro112=) http://identifiers.org/clinvar/392292 ^@ NM_001128425.1(MUTYH):c.157+20C>G http://identifiers.org/clinvar/380233 ^@ NM_006516.2(SLC2A1):c.1373G>A (p.Arg458Gln) http://identifiers.org/clinvar/393174 ^@ NM_005026.3(PIK3CD):c.181A>G (p.Met61Val) http://identifiers.org/clinvar/380711 ^@ NM_000310.3(PPT1):c.363-5C>T http://identifiers.org/clinvar/387215 ^@ NM_000310.3(PPT1):c.234+18T>C http://identifiers.org/clinvar/388138 ^@ NM_001852.3(COL9A2):c.363+20G>A http://identifiers.org/clinvar/390684 ^@ NM_000642.2(AGL):c.261A>G (p.Gln87=) http://identifiers.org/clinvar/389650 ^@ NM_000642.2(AGL):c.1423+1G>T http://identifiers.org/clinvar/379769 ^@ NM_022356.3(P3H1):c.1284C>T (p.Ile428=) http://identifiers.org/clinvar/380353 ^@ NM_001128425.1(MUTYH):c.-13A>C http://identifiers.org/clinvar/382619 ^@ NM_006516.2(SLC2A1):c.1224C>G (p.Gly408=) http://identifiers.org/clinvar/382623 ^@ NM_006516.2(SLC2A1):c.1282C>T (p.Leu428=) http://identifiers.org/clinvar/378613 ^@ NM_006516.2(SLC2A1):c.1155C>T (p.Pro385=) http://identifiers.org/clinvar/378150 ^@ NM_015506.2(MMACHC):c.800G>A (p.Arg267Gln) http://identifiers.org/clinvar/378611 ^@ NM_006516.2(SLC2A1):c.972+17T>A http://identifiers.org/clinvar/378612 ^@ NM_006516.2(SLC2A1):c.1075-14G>A http://identifiers.org/clinvar/379532 ^@ NM_006516.2(SLC2A1):c.1059C>T (p.Ile353=) http://identifiers.org/clinvar/379117 ^@ NM_006516.2(SLC2A1):c.967G>A (p.Val323Met) http://identifiers.org/clinvar/383120 ^@ NM_006516.2(SLC2A1):c.522C>T (p.Phe174=) http://identifiers.org/clinvar/378610 ^@ NM_006516.2(SLC2A1):c.885G>A (p.Thr295=) http://identifiers.org/clinvar/378609 ^@ NM_006516.2(SLC2A1):c.864C>T (p.Asn288=) http://identifiers.org/clinvar/379258 ^@ NM_006516.2(SLC2A1):c.493G>A (p.Val165Ile) http://identifiers.org/clinvar/384863 ^@ NM_006516.2(SLC2A1):c.492C>T (p.Ile164=) http://identifiers.org/clinvar/381541 ^@ NM_006516.2(SLC2A1):c.844C>T (p.Gln282Ter) http://identifiers.org/clinvar/388271 ^@ NM_015506.2(MMACHC):c.*20T>C http://identifiers.org/clinvar/392136 ^@ NM_000642.2(AGL):c.1612-10C>G http://identifiers.org/clinvar/384584 ^@ NM_000642.2(AGL):c.1900-6T>C http://identifiers.org/clinvar/386919 ^@ NM_000642.2(AGL):c.2949+20C>T http://identifiers.org/clinvar/379542 ^@ NM_003035.2(STIL):c.428T>C (p.Val143Ala) http://identifiers.org/clinvar/389726 ^@ NM_000098.2(CPT2):c.495A>T (p.Thr165=) http://identifiers.org/clinvar/384061 ^@ NM_006516.2(SLC2A1):c.822C>T (p.Ile274=) http://identifiers.org/clinvar/378186 ^@ NM_001128425.1(MUTYH):c.1519-14C>G http://identifiers.org/clinvar/384564 ^@ NM_000642.2(AGL):c.3696C>T (p.Asp1232=) http://identifiers.org/clinvar/389361 ^@ NM_000642.2(AGL):c.3701-5T>G http://identifiers.org/clinvar/387976 ^@ NM_000642.2(AGL):c.4164C>G (p.Ala1388=) http://identifiers.org/clinvar/392128 ^@ NM_000098.2(CPT2):c.870C>T (p.Tyr290=) http://identifiers.org/clinvar/378185 ^@ NM_001128425.1(MUTYH):c.1477-17C>G http://identifiers.org/clinvar/386357 ^@ NM_152268.3(PARS2):c.1299G>A (p.Val433=) http://identifiers.org/clinvar/387683 ^@ NM_001128425.1(MUTYH):c.1476+18T>C http://identifiers.org/clinvar/379594 ^@ NM_001128425.1(MUTYH):c.1324-20C>T http://identifiers.org/clinvar/382095 ^@ NM_006267.4(RANBP2):c.-41G>T http://identifiers.org/clinvar/380026 ^@ NM_006267.4(RANBP2):c.405+17T>G http://identifiers.org/clinvar/380027 ^@ NM_006267.4(RANBP2):c.637-18G>A http://identifiers.org/clinvar/381172 ^@ NM_152268.3(PARS2):c.1158C>T (p.Ala386=) http://identifiers.org/clinvar/378607 ^@ NM_006516.2(SLC2A1):c.680-16C>T http://identifiers.org/clinvar/380003 ^@ NM_152268.3(PARS2):c.704A>G (p.Asn235Ser) http://identifiers.org/clinvar/383037 ^@ NM_006267.4(RANBP2):c.783-6T>C http://identifiers.org/clinvar/378606 ^@ NM_006516.2(SLC2A1):c.517-18G>A http://identifiers.org/clinvar/381510 ^@ NM_006516.2(SLC2A1):c.18+14C>T http://identifiers.org/clinvar/381204 ^@ NM_152268.3(PARS2):c.62T>G (p.Leu21Arg) http://identifiers.org/clinvar/378698 ^@ NM_015284.3(SZT2):c.2550+5G>A http://identifiers.org/clinvar/393086 ^@ NM_015284.3(SZT2):c.2950A>G (p.Thr984Ala) http://identifiers.org/clinvar/392421 ^@ NM_001128425.1(MUTYH):c.1608C>T (p.His536=) http://identifiers.org/clinvar/385453 ^@ NM_001128425.1(MUTYH):c.1324-20C>A http://identifiers.org/clinvar/387730 ^@ NM_001128425.1(MUTYH):c.1323+13C>T http://identifiers.org/clinvar/381173 ^@ NM_006267.4(RANBP2):c.816G>C (p.Leu272Phe) http://identifiers.org/clinvar/384381 ^@ NM_001128425.1(MUTYH):c.1186+12C>T http://identifiers.org/clinvar/383001 ^@ NM_006267.4(RANBP2):c.2330A>G (p.His777Arg) http://identifiers.org/clinvar/382462 ^@ NM_006267.4(RANBP2):c.2466+17C>T http://identifiers.org/clinvar/391079 ^@ NM_001128425.1(MUTYH):c.1035C>T (p.Pro345=) http://identifiers.org/clinvar/392626 ^@ NM_001128425.1(MUTYH):c.933+20G>A http://identifiers.org/clinvar/380029 ^@ NM_006267.4(RANBP2):c.2550A>G (p.Ser850=) http://identifiers.org/clinvar/381785 ^@ NM_001128425.1(MUTYH):c.576+20G>A http://identifiers.org/clinvar/387729 ^@ NM_001128425.1(MUTYH):c.1044C>A (p.Pro348=) http://identifiers.org/clinvar/388554 ^@ NM_001128425.1(MUTYH):c.997+13C>T http://identifiers.org/clinvar/380576 ^@ NM_006267.4(RANBP2):c.2982A>T (p.Ala994=) http://identifiers.org/clinvar/389038 ^@ NM_013339.3(ALG6):c.987+12A>G http://identifiers.org/clinvar/382059 ^@ NM_006267.4(RANBP2):c.5489A>G (p.His1830Arg) http://identifiers.org/clinvar/385670 ^@ NM_013339.3(ALG6):c.1059-8G>A http://identifiers.org/clinvar/391430 ^@ NM_013339.3(ALG6):c.1443C>T (p.Asn481=) http://identifiers.org/clinvar/378183 ^@ NM_001128425.1(MUTYH):c.576+6G>C http://identifiers.org/clinvar/383957 ^@ NM_001128425.1(MUTYH):c.389-6C>T http://identifiers.org/clinvar/383376 ^@ NM_001128425.1(MUTYH):c.267C>T (p.Asp89=) http://identifiers.org/clinvar/382622 ^@ NM_015506.2(MMACHC):c.699A>G (p.Leu233=) http://identifiers.org/clinvar/381887 ^@ NM_006267.4(RANBP2):c.6612C>A (p.Ala2204=) http://identifiers.org/clinvar/387151 ^@ NM_001128425.1(MUTYH):c.861C>T (p.Ala287=) http://identifiers.org/clinvar/383275 ^@ NM_006267.4(RANBP2):c.8113+12G>A http://identifiers.org/clinvar/384306 ^@ NM_000272.3(NPHP1):c.267G>A (p.Leu89=) http://identifiers.org/clinvar/392102 ^@ NM_145693.3(LPIN1):c.2212C>T (p.His738Tyr) http://identifiers.org/clinvar/385608 ^@ NM_012186.2(FOXE3):c.234G>A (p.Ala78=) http://identifiers.org/clinvar/383228 ^@ NM_139343.2(BIN1):c.1114G>A (p.Val372Met) http://identifiers.org/clinvar/384571 ^@ NM_002633.2(PGM1):c.18A>G (p.Thr6=) http://identifiers.org/clinvar/382980 ^@ NM_002633.2(PGM1):c.99C>T (p.Ala33=) http://identifiers.org/clinvar/384658 ^@ NM_001128425.1(MUTYH):c.691-11C>T http://identifiers.org/clinvar/381866 ^@ NM_002633.2(PGM1):c.1600-518C>T http://identifiers.org/clinvar/387281 ^@ NM_020631.4(PLEKHG5):c.2281A>G (p.Met761Val) http://identifiers.org/clinvar/392475 ^@ NM_001128425.1(MUTYH):c.642C>T (p.Gly214=) http://identifiers.org/clinvar/383645 ^@ NM_139343.2(BIN1):c.1003-11C>G http://identifiers.org/clinvar/389673 ^@ NM_139343.2(BIN1):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/379507 ^@ NM_001128425.1(MUTYH):c.463-14G>A http://identifiers.org/clinvar/387827 ^@ NM_139343.2(BIN1):c.636C>T (p.Ala212=) http://identifiers.org/clinvar/378451 ^@ NM_012233.2(RAB3GAP1):c.724T>C (p.Tyr242His) http://identifiers.org/clinvar/382134 ^@ NM_012233.2(RAB3GAP1):c.1499+20A>G http://identifiers.org/clinvar/381439 ^@ NM_152268.3(PARS2):c.489G>A (p.Thr163=) http://identifiers.org/clinvar/387255 ^@ NM_001349.3(DARS):c.822G>A (p.Ala274=) http://identifiers.org/clinvar/391033 ^@ NM_001349.3(DARS):c.423+4A>T http://identifiers.org/clinvar/378182 ^@ NM_001128425.1(MUTYH):c.349-7T>C http://identifiers.org/clinvar/384224 ^@ NM_152268.3(PARS2):c.150C>T (p.Asn50=) http://identifiers.org/clinvar/378375 ^@ NM_020631.4(PLEKHG5):c.592-14C>T http://identifiers.org/clinvar/378374 ^@ NM_020631.4(PLEKHG5):c.440-6A>G http://identifiers.org/clinvar/380002 ^@ NM_152268.3(PARS2):c.84G>T (p.Arg28Ser) http://identifiers.org/clinvar/391395 ^@ NM_020631.4(PLEKHG5):c.102A>G (p.Ala34=) http://identifiers.org/clinvar/386608 ^@ NM_152268.3(PARS2):c.-30+20T>C http://identifiers.org/clinvar/387102 ^@ NM_014795.3(ZEB2):c.3582G>A (p.Ser1194=) http://identifiers.org/clinvar/382062 ^@ NM_013339.3(ALG6):c.1398A>T (p.Leu466=) http://identifiers.org/clinvar/391822 ^@ NM_001128425.1(MUTYH):c.157+20C>T http://identifiers.org/clinvar/385810 ^@ NM_002633.2(PGM1):c.264C>T (p.Ile88=) http://identifiers.org/clinvar/390409 ^@ NM_002633.2(PGM1):c.735G>A (p.Ala245=) http://identifiers.org/clinvar/381577 ^@ NM_015506.2(MMACHC):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/392590 ^@ NM_017739.3(POMGNT1):c.565G>T (p.Ala189Ser) http://identifiers.org/clinvar/380860 ^@ NM_020631.4(PLEKHG5):c.-27998G>A http://identifiers.org/clinvar/393078 ^@ NM_015215.3(CAMTA1):c.1744G>T (p.Glu582Ter) http://identifiers.org/clinvar/391143 ^@ NM_014795.3(ZEB2):c.3557G>T (p.Gly1186Val) http://identifiers.org/clinvar/379072 ^@ NM_014795.3(ZEB2):c.3432C>T (p.Gly1144=) http://identifiers.org/clinvar/386090 ^@ NM_002633.2(PGM1):c.1464+14G>A http://identifiers.org/clinvar/378869 ^@ NM_014795.3(ZEB2):c.2256G>A (p.Thr752=) http://identifiers.org/clinvar/393217 ^@ NM_020631.4(PLEKHG5):c.2677G>A (p.Gly893Arg) http://identifiers.org/clinvar/383313 ^@ NM_144573.3(NEXN):c.468G>A (p.Thr156=) http://identifiers.org/clinvar/388097 ^@ NM_020631.4(PLEKHG5):c.2249+7C>G http://identifiers.org/clinvar/384077 ^@ NM_014795.3(ZEB2):c.1953A>G (p.Pro651=) http://identifiers.org/clinvar/384170 ^@ NM_014795.3(ZEB2):c.1839C>G (p.Val613=) http://identifiers.org/clinvar/391000 ^@ NM_020631.4(PLEKHG5):c.2226C>T (p.Ser742=) http://identifiers.org/clinvar/380262 ^@ NM_014795.3(ZEB2):c.1526C>T (p.Pro509Leu) http://identifiers.org/clinvar/385088 ^@ NM_014795.3(ZEB2):c.1233C>T (p.Gly411=) http://identifiers.org/clinvar/388922 ^@ NM_020631.4(PLEKHG5):c.1933+18C>T http://identifiers.org/clinvar/382568 ^@ NM_020631.4(PLEKHG5):c.1081-12C>T http://identifiers.org/clinvar/391187 ^@ NM_014795.3(ZEB2):c.396T>C (p.Asn132=) http://identifiers.org/clinvar/381693 ^@ NM_018328.4(MBD5):c.-974A>G http://identifiers.org/clinvar/382227 ^@ NM_020631.4(PLEKHG5):c.997C>A (p.Arg333=) http://identifiers.org/clinvar/389779 ^@ NM_020631.4(PLEKHG5):c.150-13C>T http://identifiers.org/clinvar/390167 ^@ NM_144573.3(NEXN):c.1252-16T>C http://identifiers.org/clinvar/387500 ^@ NM_018328.4(MBD5):c.216+15A>G http://identifiers.org/clinvar/386966 ^@ NM_017739.3(POMGNT1):c.-33C>T http://identifiers.org/clinvar/387501 ^@ NM_018328.4(MBD5):c.939A>G (p.Pro313=) http://identifiers.org/clinvar/380863 ^@ NM_020631.4(PLEKHG5):c.-88+6307T>A http://identifiers.org/clinvar/392566 ^@ NM_018328.4(MBD5):c.1419G>A (p.Met473Ile) http://identifiers.org/clinvar/378116 ^@ NM_018328.4(MBD5):c.2970G>A (p.Gln990=) http://identifiers.org/clinvar/380861 ^@ NM_020631.4(PLEKHG5):c.-5400T>G http://identifiers.org/clinvar/384767 ^@ NM_000016.5(ACADM):c.210T>G (p.Thr70=) http://identifiers.org/clinvar/392708 ^@ NM_003035.2(STIL):c.2933A>C (p.His978Pro) http://identifiers.org/clinvar/381630 ^@ NM_000016.5(ACADM):c.218A>G (p.Tyr73Cys) http://identifiers.org/clinvar/383925 ^@ NM_012186.2(FOXE3):c.224C>T (p.Ser75Leu) http://identifiers.org/clinvar/387616 ^@ NM_000016.5(ACADM):c.261G>A (p.Met87Ile) http://identifiers.org/clinvar/393036 ^@ NM_018328.4(MBD5):c.3054+15T>A http://identifiers.org/clinvar/381371 ^@ NM_144573.3(NEXN):c.1275T>C (p.Phe425=) http://identifiers.org/clinvar/385181 ^@ NM_144573.3(NEXN):c.1473+15T>C http://identifiers.org/clinvar/380979 ^@ NM_018328.4(MBD5):c.3483A>G (p.Ser1161=) http://identifiers.org/clinvar/382668 ^@ NM_144573.3(NEXN):c.1488T>C (p.Asp496=) http://identifiers.org/clinvar/392786 ^@ NM_015215.3(CAMTA1):c.893G>A (p.Gly298Glu) http://identifiers.org/clinvar/391564 ^@ NM_012102.3(RERE):c.4391A>G (p.His1464Arg) http://identifiers.org/clinvar/383926 ^@ NM_012186.2(FOXE3):c.431A>G (p.Tyr144Cys) http://identifiers.org/clinvar/385445 ^@ NM_000098.2(CPT2):c.1422C>A (p.Ala474=) http://identifiers.org/clinvar/390487 ^@ NM_015215.3(CAMTA1):c.4921C>T (p.Arg1641Ter) http://identifiers.org/clinvar/381137 ^@ NM_018328.4(MBD5):c.3519G>A (p.Gly1173=) http://identifiers.org/clinvar/390517 ^@ NM_018328.4(MBD5):c.4032C>T (p.Ser1344=) http://identifiers.org/clinvar/380172 ^@ NM_152268.3(PARS2):c.843C>T (p.Asn281=) http://identifiers.org/clinvar/385527 ^@ NM_144573.3(NEXN):c.1474-10T>C http://identifiers.org/clinvar/383099 ^@ NM_018328.4(MBD5):c.4296A>G (p.Glu1432=) http://identifiers.org/clinvar/389233 ^@ NM_018328.4(MBD5):c.4408G>A (p.Gly1470Arg) http://identifiers.org/clinvar/379826 ^@ NM_000969.3(RPL5):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/379827 ^@ NM_012102.3(RERE):c.4286A>G (p.His1429Arg) http://identifiers.org/clinvar/385684 ^@ NM_018328.4(MBD5):c.4464G>A (p.Lys1488=) http://identifiers.org/clinvar/377411 ^@ NM_000350.2(ABCA4):c.6522G>A (p.Pro2174=) http://identifiers.org/clinvar/383951 ^@ NM_018328.4(MBD5):c.*12C>A http://identifiers.org/clinvar/386389 ^@ NM_000350.2(ABCA4):c.5955C>T (p.Leu1985=) http://identifiers.org/clinvar/383708 ^@ NM_004522.2(KIF5C):c.-44G>A http://identifiers.org/clinvar/380528 ^@ NM_013339.3(ALG6):c.678G>T (p.Lys226Asn) http://identifiers.org/clinvar/377409 ^@ NM_000350.2(ABCA4):c.6317G>A (p.Arg2106His) http://identifiers.org/clinvar/385842 ^@ NM_004522.2(KIF5C):c.819+15C>T http://identifiers.org/clinvar/377404 ^@ NM_000350.2(ABCA4):c.4363T>C (p.Cys1455Arg) http://identifiers.org/clinvar/377407 ^@ NM_000350.2(ABCA4):c.5646G>A (p.Met1882Ile) http://identifiers.org/clinvar/383073 ^@ NM_144988.3(ALG14):c.524T>A (p.Ile175Asn) http://identifiers.org/clinvar/384346 ^@ NM_000350.2(ABCA4):c.3297A>C (p.Ser1099=) http://identifiers.org/clinvar/378056 ^@ NM_004522.2(KIF5C):c.2863T>C (p.Tyr955His) http://identifiers.org/clinvar/382393 ^@ NM_015702.2(MMADHC):c.9+17T>A http://identifiers.org/clinvar/381535 ^@ NM_013339.3(ALG6):c.680G>A (p.Gly227Glu) http://identifiers.org/clinvar/384901 ^@ NM_015702.2(MMADHC):c.9+14C>T http://identifiers.org/clinvar/378151 ^@ NM_015702.2(MMADHC):c.-8C>T http://identifiers.org/clinvar/384490 ^@ NM_001271208.1(NEB):c.25266G>A (p.Gln8422=) http://identifiers.org/clinvar/384848 ^@ NM_001271208.1(NEB):c.24632C>T (p.Pro8211Leu) http://identifiers.org/clinvar/389735 ^@ NM_000642.2(AGL):c.-76C>G http://identifiers.org/clinvar/390560 ^@ NM_000642.2(AGL):c.954A>G (p.Thr318=) http://identifiers.org/clinvar/381432 ^@ NM_002633.2(PGM1):c.573G>A (p.Ser191=) http://identifiers.org/clinvar/391249 ^@ NM_000642.2(AGL):c.2522C>A (p.Ser841Tyr) http://identifiers.org/clinvar/387804 ^@ NM_020631.4(PLEKHG5):c.2319C>G (p.Pro773=) http://identifiers.org/clinvar/377400 ^@ NM_000350.2(ABCA4):c.185C>T (p.Pro62Leu) http://identifiers.org/clinvar/392589 ^@ NM_001271208.1(NEB):c.24443T>C (p.Leu8148Pro) http://identifiers.org/clinvar/382680 ^@ NM_001271208.1(NEB):c.23940+14T>G http://identifiers.org/clinvar/382407 ^@ NM_000642.2(AGL):c.3589-19C>T http://identifiers.org/clinvar/382374 ^@ NM_000642.2(AGL):c.4119T>C (p.Cys1373=) http://identifiers.org/clinvar/381858 ^@ NM_006267.4(RANBP2):c.1064-13A>T http://identifiers.org/clinvar/380597 ^@ NM_006267.4(RANBP2):c.1274-14T>A http://identifiers.org/clinvar/383072 ^@ NM_144988.3(ALG14):c.140G>T (p.Gly47Val) http://identifiers.org/clinvar/380028 ^@ NM_006267.4(RANBP2):c.1456-7A>G http://identifiers.org/clinvar/391552 ^@ NM_001271208.1(NEB):c.23346+16C>T http://identifiers.org/clinvar/392424 ^@ NM_001271208.1(NEB):c.22777A>T (p.Asn7593Tyr) http://identifiers.org/clinvar/386661 ^@ NM_020631.4(PLEKHG5):c.1896C>T (p.Leu632=) http://identifiers.org/clinvar/378377 ^@ NM_020631.4(PLEKHG5):c.1705G>A (p.Asp569Asn) http://identifiers.org/clinvar/382437 ^@ NM_006267.4(RANBP2):c.2173A>G (p.Ser725Gly) http://identifiers.org/clinvar/392562 ^@ NM_020631.4(PLEKHG5):c.1517G>A (p.Arg506His) http://identifiers.org/clinvar/378376 ^@ NM_020631.4(PLEKHG5):c.1236G>A (p.Thr412=) http://identifiers.org/clinvar/389194 ^@ NM_000642.2(AGL):c.-69+11G>C http://identifiers.org/clinvar/385974 ^@ NM_000642.2(AGL):c.854G>A (p.Arg285Gln) http://identifiers.org/clinvar/381291 ^@ NM_001271208.1(NEB):c.21173C>T (p.Thr7058Ile) http://identifiers.org/clinvar/381436 ^@ NM_006267.4(RANBP2):c.2559T>A (p.Asp853Glu) http://identifiers.org/clinvar/383697 ^@ NM_001271208.1(NEB):c.19944+14A>T http://identifiers.org/clinvar/380578 ^@ NM_000642.2(AGL):c.959-53A>T http://identifiers.org/clinvar/380917 ^@ NM_001271208.1(NEB):c.16669A>G (p.Ile5557Val) http://identifiers.org/clinvar/387566 ^@ NM_001271208.1(NEB):c.15892C>T (p.Arg5298Cys) http://identifiers.org/clinvar/388194 ^@ NM_001271208.1(NEB):c.15513G>A (p.Pro5171=) http://identifiers.org/clinvar/392960 ^@ NM_020631.4(PLEKHG5):c.1081-19C>T http://identifiers.org/clinvar/383877 ^@ NM_001271208.1(NEB):c.15445A>T (p.Ser5149Cys) http://identifiers.org/clinvar/388985 ^@ NM_020631.4(PLEKHG5):c.621G>A (p.Ser207=) http://identifiers.org/clinvar/386745 ^@ NM_001271208.1(NEB):c.15237A>G (p.Leu5079=) http://identifiers.org/clinvar/383128 ^@ NM_001271208.1(NEB):c.14834A>G (p.Tyr4945Cys) http://identifiers.org/clinvar/389848 ^@ NM_001271208.1(NEB):c.14755G>C (p.Ala4919Pro) http://identifiers.org/clinvar/384860 ^@ NM_001271208.1(NEB):c.14514C>A (p.Ser4838Arg) http://identifiers.org/clinvar/388494 ^@ NM_000642.2(AGL):c.2917C>T (p.Arg973Trp) http://identifiers.org/clinvar/381841 ^@ NM_000642.2(AGL):c.3792A>T (p.Gly1264=) http://identifiers.org/clinvar/380048 ^@ NM_006267.4(RANBP2):c.4443A>G (p.Gly1481=) http://identifiers.org/clinvar/384995 ^@ NM_000642.2(AGL):c.3822C>T (p.Ile1274=) http://identifiers.org/clinvar/380862 ^@ NM_020631.4(PLEKHG5):c.-88+1192G>A http://identifiers.org/clinvar/383876 ^@ NM_001271208.1(NEB):c.13987A>T (p.Ser4663Cys) http://identifiers.org/clinvar/386599 ^@ NM_000016.5(ACADM):c.582C>T (p.Asn194=) http://identifiers.org/clinvar/380579 ^@ NM_006267.4(RANBP2):c.5941T>A (p.Ser1981Thr) http://identifiers.org/clinvar/391495 ^@ NM_006267.4(RANBP2):c.6349G>A (p.Ala2117Thr) http://identifiers.org/clinvar/386718 ^@ NM_000016.5(ACADM):c.645T>A (p.Ala215=) http://identifiers.org/clinvar/380106 ^@ NM_006267.4(RANBP2):c.6609G>A (p.Ala2203=) http://identifiers.org/clinvar/377420 ^@ NM_000016.5(ACADM):c.866T>C (p.Val289Ala) http://identifiers.org/clinvar/382601 ^@ NM_006267.4(RANBP2):c.6643C>G (p.Pro2215Ala) http://identifiers.org/clinvar/384646 ^@ NM_001271208.1(NEB):c.13661G>A (p.Ser4554Asn) http://identifiers.org/clinvar/380569 ^@ NM_006267.4(RANBP2):c.7499C>T (p.Thr2500Ile) http://identifiers.org/clinvar/391085 ^@ NM_000642.2(AGL):c.4539C>T (p.Phe1513=) http://identifiers.org/clinvar/381802 ^@ NM_001271208.1(NEB):c.13370A>C (p.Lys4457Thr) http://identifiers.org/clinvar/391665 ^@ NM_006267.4(RANBP2):c.7850-5T>A http://identifiers.org/clinvar/391982 ^@ NM_000016.5(ACADM):c.946-9T>C http://identifiers.org/clinvar/390973 ^@ NM_001271208.1(NEB):c.12970G>A (p.Asp4324Asn) http://identifiers.org/clinvar/387565 ^@ NM_001271208.1(NEB):c.10434T>C (p.Asn3478=) http://identifiers.org/clinvar/380105 ^@ NM_006267.4(RANBP2):c.72+11C>G http://identifiers.org/clinvar/382598 ^@ NM_006267.4(RANBP2):c.560A>G (p.His187Arg) http://identifiers.org/clinvar/381859 ^@ NM_006267.4(RANBP2):c.8600-14G>T http://identifiers.org/clinvar/389326 ^@ NM_139343.2(BIN1):c.*1C>T http://identifiers.org/clinvar/382463 ^@ NM_006267.4(RANBP2):c.2955G>A (p.Pro985=) http://identifiers.org/clinvar/383366 ^@ NM_001271208.1(NEB):c.10299C>G (p.Asp3433Glu) http://identifiers.org/clinvar/382090 ^@ NM_006267.4(RANBP2):c.3597G>A (p.Ala1199=) http://identifiers.org/clinvar/388450 ^@ NM_139343.2(BIN1):c.805G>A (p.Gly269Ser) http://identifiers.org/clinvar/388181 ^@ NM_144573.3(NEXN):c.299-14T>C http://identifiers.org/clinvar/382504 ^@ NM_144573.3(NEXN):c.1806G>A (p.Thr602=) http://identifiers.org/clinvar/379875 ^@ NM_053274.2(GLMN):c.39+2T>C http://identifiers.org/clinvar/391111 ^@ NM_001271208.1(NEB):c.8643C>T (p.Ser2881=) http://identifiers.org/clinvar/382464 ^@ NM_006267.4(RANBP2):c.7849+4A>G http://identifiers.org/clinvar/383084 ^@ NM_012233.2(RAB3GAP1):c.2138T>C (p.Ile713Thr) http://identifiers.org/clinvar/390466 ^@ NM_000350.2(ABCA4):c.6031C>T (p.His2011Tyr) http://identifiers.org/clinvar/385699 ^@ NM_012233.2(RAB3GAP1):c.2524C>T (p.Leu842Phe) http://identifiers.org/clinvar/383038 ^@ NM_006267.4(RANBP2):c.9369+4G>A http://identifiers.org/clinvar/381423 ^@ NM_001349.3(DARS):c.1414+18C>T http://identifiers.org/clinvar/382069 ^@ NM_001349.3(DARS):c.802A>G (p.Ile268Val) http://identifiers.org/clinvar/388192 ^@ NM_001271208.1(NEB):c.6183+17C>T http://identifiers.org/clinvar/377406 ^@ NM_000350.2(ABCA4):c.5572T>A (p.Tyr1858Asn) http://identifiers.org/clinvar/385557 ^@ NM_000272.3(NPHP1):c.1692A>G (p.Val564=) http://identifiers.org/clinvar/382474 ^@ NM_001349.3(DARS):c.570A>G (p.Ser190=) http://identifiers.org/clinvar/388584 ^@ NM_001271208.1(NEB):c.3936C>T (p.Gly1312=) http://identifiers.org/clinvar/389565 ^@ NM_001271208.1(NEB):c.3801T>C (p.Asp1267=) http://identifiers.org/clinvar/388476 ^@ NM_005270.4(GLI2):c.845+6C>T http://identifiers.org/clinvar/377402 ^@ NM_000350.2(ABCA4):c.1531C>T (p.Arg511Cys) http://identifiers.org/clinvar/387549 ^@ NM_139343.2(BIN1):c.1197G>A (p.Pro399=) http://identifiers.org/clinvar/385471 ^@ NM_000350.2(ABCA4):c.1013A>G (p.Asn338Ser) http://identifiers.org/clinvar/387007 ^@ NM_139343.2(BIN1):c.1131+7C>T http://identifiers.org/clinvar/380946 ^@ NM_139343.2(BIN1):c.858-1462G>A http://identifiers.org/clinvar/390983 ^@ NM_001271208.1(NEB):c.2415T>C (p.Asp805=) http://identifiers.org/clinvar/391409 ^@ NM_014795.3(ZEB2):c.2886+12A>C http://identifiers.org/clinvar/388191 ^@ NM_001271208.1(NEB):c.2107-8C>T http://identifiers.org/clinvar/391290 ^@ NM_012233.2(RAB3GAP1):c.1268C>G (p.Pro423Arg) http://identifiers.org/clinvar/391782 ^@ NM_012233.2(RAB3GAP1):c.1923+13A>C http://identifiers.org/clinvar/389929 ^@ NM_001271208.1(NEB):c.822+13A>G http://identifiers.org/clinvar/377622 ^@ NM_000726.4(CACNB4):c.1033T>C (p.Leu345=) http://identifiers.org/clinvar/380520 ^@ NM_001349.3(DARS):c.1342+14A>G http://identifiers.org/clinvar/382563 ^@ NM_000726.4(CACNB4):c.1020+16C>G http://identifiers.org/clinvar/379714 ^@ NM_014795.3(ZEB2):c.2746A>G (p.Ser916Gly) http://identifiers.org/clinvar/385085 ^@ NM_014795.3(ZEB2):c.2646A>G (p.Pro882=) http://identifiers.org/clinvar/379612 ^@ NM_000350.2(ABCA4):c.1003C>T (p.Leu335Phe) http://identifiers.org/clinvar/386556 ^@ NM_014795.3(ZEB2):c.2016T>C (p.Asp672=) http://identifiers.org/clinvar/383743 ^@ NM_000350.2(ABCA4):c.1002G>C (p.Val334=) http://identifiers.org/clinvar/382202 ^@ NM_000726.4(CACNB4):c.315C>T (p.Gly105=) http://identifiers.org/clinvar/383416 ^@ NM_001349.3(DARS):c.505-13T>C http://identifiers.org/clinvar/388349 ^@ NM_015909.3(NBAS):c.5139-5T>G http://identifiers.org/clinvar/389018 ^@ NM_001349.3(DARS):c.321-19G>C http://identifiers.org/clinvar/393230 ^@ NM_015909.3(NBAS):c.451G>A (p.Glu151Lys) http://identifiers.org/clinvar/383746 ^@ NM_005378.5(MYCN):c.1351C>T (p.Gln451Ter) http://identifiers.org/clinvar/385903 ^@ NM_014795.3(ZEB2):c.797G>A (p.Gly266Glu) http://identifiers.org/clinvar/381118 ^@ NM_014795.3(ZEB2):c.314C>A (p.Ala105Asp) http://identifiers.org/clinvar/381868 ^@ NM_001349.3(DARS):c.-42C>G http://identifiers.org/clinvar/378871 ^@ NM_014795.3(ZEB2):c.3353C>A (p.Pro1118His) http://identifiers.org/clinvar/389103 ^@ NM_021007.2(SCN2A):c.252C>T (p.Tyr84=) http://identifiers.org/clinvar/392737 ^@ NM_014795.3(ZEB2):c.2622T>A (p.Asn874Lys) http://identifiers.org/clinvar/380302 ^@ NM_014795.3(ZEB2):c.1949A>C (p.Asn650Thr) http://identifiers.org/clinvar/379351 ^@ NM_144988.3(ALG14):c.326G>A (p.Arg109Gln) http://identifiers.org/clinvar/386480 ^@ NM_021007.2(SCN2A):c.268-19G>A http://identifiers.org/clinvar/390228 ^@ NM_014795.3(ZEB2):c.1534G>A (p.Gly512Ser) http://identifiers.org/clinvar/389050 ^@ NM_000642.2(AGL):c.846+14G>A http://identifiers.org/clinvar/382454 ^@ NM_000642.2(AGL):c.1875G>T (p.Thr625=) http://identifiers.org/clinvar/383867 ^@ NM_021007.2(SCN2A):c.1177-16C>G http://identifiers.org/clinvar/390127 ^@ NM_014795.3(ZEB2):c.798G>A (p.Gly266=) http://identifiers.org/clinvar/391083 ^@ NM_000642.2(AGL):c.3700+14A>G http://identifiers.org/clinvar/378868 ^@ NM_014795.3(ZEB2):c.179C>T (p.Thr60Met) http://identifiers.org/clinvar/381112 ^@ NM_018328.4(MBD5):c.-962+16C>T http://identifiers.org/clinvar/378525 ^@ NM_021007.2(SCN2A):c.1384-4C>G http://identifiers.org/clinvar/383488 ^@ NM_000642.2(AGL):c.4482-18G>A http://identifiers.org/clinvar/386565 ^@ NM_018328.4(MBD5):c.60A>G (p.Gln20=) http://identifiers.org/clinvar/382529 ^@ NM_018328.4(MBD5):c.327G>A (p.Val109=) http://identifiers.org/clinvar/380075 ^@ NM_006267.4(RANBP2):c.-45C>T http://identifiers.org/clinvar/391948 ^@ NM_014795.3(ZEB2):c.621T>C (p.Phe207=) http://identifiers.org/clinvar/388778 ^@ NM_014795.3(ZEB2):c.395A>G (p.Asn132Ser) http://identifiers.org/clinvar/385550 ^@ NM_021007.2(SCN2A):c.1833G>A (p.Leu611=) http://identifiers.org/clinvar/385055 ^@ NM_014795.3(ZEB2):c.349T>C (p.Tyr117His) http://identifiers.org/clinvar/380588 ^@ NM_006267.4(RANBP2):c.238G>A (p.Val80Ile) http://identifiers.org/clinvar/384958 ^@ NM_018328.4(MBD5):c.397+20G>A http://identifiers.org/clinvar/381504 ^@ NM_014795.3(ZEB2):c.295A>G (p.Asn99Asp) http://identifiers.org/clinvar/385838 ^@ NM_021007.2(SCN2A):c.1938C>T (p.Ser646=) http://identifiers.org/clinvar/381140 ^@ NM_014795.3(ZEB2):c.225C>T (p.Ser75=) http://identifiers.org/clinvar/379408 ^@ NM_021007.2(SCN2A):c.2757A>G (p.Glu919=) http://identifiers.org/clinvar/378114 ^@ NM_018328.4(MBD5):c.471A>G (p.Thr157=) http://identifiers.org/clinvar/388341 ^@ NM_021007.2(SCN2A):c.2760C>T (p.Leu920=) http://identifiers.org/clinvar/378530 ^@ NM_021007.2(SCN2A):c.2919+8G>A http://identifiers.org/clinvar/385747 ^@ NM_018328.4(MBD5):c.588T>C (p.Pro196=) http://identifiers.org/clinvar/378531 ^@ NM_021007.2(SCN2A):c.3330A>C (p.Gly1110=) http://identifiers.org/clinvar/387907 ^@ NM_014795.3(ZEB2):c.73+6A>C http://identifiers.org/clinvar/386736 ^@ NM_014795.3(ZEB2):c.-64G>A http://identifiers.org/clinvar/381961 ^@ NM_021007.2(SCN2A):c.3964G>A (p.Gly1322Arg) http://identifiers.org/clinvar/382435 ^@ NM_006267.4(RANBP2):c.1209C>T (p.Ser403=) http://identifiers.org/clinvar/384404 ^@ NM_014795.3(ZEB2):c.-70+8T>C http://identifiers.org/clinvar/382436 ^@ NM_006267.4(RANBP2):c.1632-16T>C http://identifiers.org/clinvar/391978 ^@ NM_021007.2(SCN2A):c.3972G>C (p.Arg1324Ser) http://identifiers.org/clinvar/386656 ^@ NM_018328.4(MBD5):c.-925+18G>A http://identifiers.org/clinvar/378533 ^@ NM_021007.2(SCN2A):c.4110C>T (p.Thr1370=) http://identifiers.org/clinvar/392439 ^@ NM_018328.4(MBD5):c.943T>G (p.Cys315Gly) http://identifiers.org/clinvar/390338 ^@ NM_021007.2(SCN2A):c.4157G>A (p.Cys1386Tyr) http://identifiers.org/clinvar/378534 ^@ NM_021007.2(SCN2A):c.4539A>T (p.Ile1513=) http://identifiers.org/clinvar/387504 ^@ NM_018328.4(MBD5):c.1635T>A (p.Ser545=) http://identifiers.org/clinvar/388174 ^@ NM_018328.4(MBD5):c.678A>T (p.Ser226=) http://identifiers.org/clinvar/380044 ^@ NM_006267.4(RANBP2):c.2056-19A>G http://identifiers.org/clinvar/388058 ^@ NM_018328.4(MBD5):c.1803C>T (p.Ser601=) http://identifiers.org/clinvar/389768 ^@ NM_018328.4(MBD5):c.2502A>C (p.Gln834His) http://identifiers.org/clinvar/385476 ^@ NM_021007.2(SCN2A):c.4552-14A>G http://identifiers.org/clinvar/381698 ^@ NM_021007.2(SCN2A):c.4944G>A (p.Thr1648=) http://identifiers.org/clinvar/382116 ^@ NM_018328.4(MBD5):c.913A>G (p.Thr305Ala) http://identifiers.org/clinvar/391743 ^@ NM_018328.4(MBD5):c.1449T>C (p.Ser483=) http://identifiers.org/clinvar/393163 ^@ NM_001165963.1(SCN1A):c.5852C>T (p.Ala1951Val) http://identifiers.org/clinvar/382461 ^@ NM_006267.4(RANBP2):c.2339C>T (p.Pro780Leu) http://identifiers.org/clinvar/378519 ^@ NM_001165963.1(SCN1A):c.5823G>A (p.Thr1941=) http://identifiers.org/clinvar/390233 ^@ NM_018328.4(MBD5):c.1536C>T (p.Ser512=) http://identifiers.org/clinvar/378893 ^@ NM_018328.4(MBD5):c.2904G>A (p.Ser968=) http://identifiers.org/clinvar/378117 ^@ NM_018328.4(MBD5):c.2991A>G (p.Gly997=) http://identifiers.org/clinvar/386437 ^@ NM_018328.4(MBD5):c.1762C>T (p.Leu588=) http://identifiers.org/clinvar/384587 ^@ NM_006267.4(RANBP2):c.2520T>C (p.Arg840=) http://identifiers.org/clinvar/387802 ^@ NM_018328.4(MBD5):c.3032C>A (p.Ala1011Asp) http://identifiers.org/clinvar/381255 ^@ NM_018328.4(MBD5):c.1987C>T (p.Pro663Ser) http://identifiers.org/clinvar/389691 ^@ NM_018328.4(MBD5):c.3702C>G (p.Val1234=) http://identifiers.org/clinvar/379188 ^@ NM_018328.4(MBD5):c.1999T>C (p.Leu667=) http://identifiers.org/clinvar/381351 ^@ NM_018328.4(MBD5):c.3930A>G (p.Gln1310=) http://identifiers.org/clinvar/378115 ^@ NM_018328.4(MBD5):c.2254A>G (p.Ile752Val) http://identifiers.org/clinvar/382490 ^@ NM_001165963.1(SCN1A):c.4632C>T (p.Asp1544=) http://identifiers.org/clinvar/382677 ^@ NM_018328.4(MBD5):c.3891G>A (p.Gln1297=) http://identifiers.org/clinvar/390525 ^@ NM_001165963.1(SCN1A):c.4476+6T>C http://identifiers.org/clinvar/386726 ^@ NM_001165963.1(SCN1A):c.4339-5G>A http://identifiers.org/clinvar/390943 ^@ NM_018328.4(MBD5):c.4230C>T (p.His1410=) http://identifiers.org/clinvar/388571 ^@ NM_018328.4(MBD5):c.4311C>T (p.Tyr1437=) http://identifiers.org/clinvar/380834 ^@ NM_004522.2(KIF5C):c.750C>T (p.Asp250=) http://identifiers.org/clinvar/382089 ^@ NM_006267.4(RANBP2):c.2562A>G (p.Gly854=) http://identifiers.org/clinvar/383166 ^@ NM_001165963.1(SCN1A):c.4061G>C (p.Cys1354Ser) http://identifiers.org/clinvar/388342 ^@ NM_001165963.1(SCN1A):c.3750G>T (p.Thr1250=) http://identifiers.org/clinvar/382682 ^@ NM_001165963.1(SCN1A):c.3585T>C (p.Asn1195=) http://identifiers.org/clinvar/385690 ^@ NM_004522.2(KIF5C):c.969-20C>T http://identifiers.org/clinvar/384874 ^@ NM_001165963.1(SCN1A):c.3480C>T (p.Gly1160=) http://identifiers.org/clinvar/380907 ^@ NM_004522.2(KIF5C):c.2767+15A>C http://identifiers.org/clinvar/378119 ^@ NM_018328.4(MBD5):c.4398C>T (p.Asp1466=) http://identifiers.org/clinvar/386041 ^@ NM_015702.2(MMADHC):c.420C>T (p.Tyr140=) http://identifiers.org/clinvar/393218 ^@ NM_001165963.1(SCN1A):c.3121A>G (p.Lys1041Glu) http://identifiers.org/clinvar/389777 ^@ NM_004522.2(KIF5C):c.397-12G>C http://identifiers.org/clinvar/381210 ^@ NM_006267.4(RANBP2):c.3411A>C (p.Pro1137=) http://identifiers.org/clinvar/386997 ^@ NM_001165963.1(SCN1A):c.2947-9G>T http://identifiers.org/clinvar/384131 ^@ NM_004522.2(KIF5C):c.1191C>T (p.Pro397=) http://identifiers.org/clinvar/379071 ^@ NM_001165963.1(SCN1A):c.2946+5G>A http://identifiers.org/clinvar/386112 ^@ NM_001165963.1(SCN1A):c.1624C>A (p.Arg542=) http://identifiers.org/clinvar/381837 ^@ NM_015702.2(MMADHC):c.-53+18C>T http://identifiers.org/clinvar/378900 ^@ NM_001165963.1(SCN1A):c.1275C>A (p.Ala425=) http://identifiers.org/clinvar/392054 ^@ NM_001271208.1(NEB):c.24843T>C (p.Ala8281=) http://identifiers.org/clinvar/382917 ^@ NM_001271208.1(NEB):c.23347-15G>A http://identifiers.org/clinvar/381570 ^@ NM_001165963.1(SCN1A):c.1170+1G>A http://identifiers.org/clinvar/383048 ^@ NM_006267.4(RANBP2):c.3934G>A (p.Val1312Ile) http://identifiers.org/clinvar/380577 ^@ NM_006267.4(RANBP2):c.7754T>C (p.Ile2585Thr) http://identifiers.org/clinvar/390594 ^@ NM_001165963.1(SCN1A):c.1096G>C (p.Asp366His) http://identifiers.org/clinvar/382465 ^@ NM_006267.4(RANBP2):c.7850-7G>C http://identifiers.org/clinvar/378269 ^@ NM_001271208.1(NEB):c.22227C>G (p.Asp7409Glu) http://identifiers.org/clinvar/385752 ^@ NM_001271208.1(NEB):c.20466+7G>A http://identifiers.org/clinvar/390542 ^@ NM_004522.2(KIF5C):c.1781T>C (p.Met594Thr) http://identifiers.org/clinvar/385695 ^@ NM_001271208.1(NEB):c.18464A>C (p.Tyr6155Ser) http://identifiers.org/clinvar/386400 ^@ NM_001271208.1(NEB):c.17304G>A (p.Leu5768=) http://identifiers.org/clinvar/386746 ^@ NM_001271208.1(NEB):c.16670T>C (p.Ile5557Thr) http://identifiers.org/clinvar/387814 ^@ NM_001271208.1(NEB):c.16622G>A (p.Arg5541His) http://identifiers.org/clinvar/387512 ^@ NM_001165963.1(SCN1A):c.1005A>G (p.Leu335=) http://identifiers.org/clinvar/386657 ^@ NM_001165963.1(SCN1A):c.965-20G>A http://identifiers.org/clinvar/384733 ^@ NM_001271208.1(NEB):c.16284+6A>G http://identifiers.org/clinvar/383623 ^@ NM_006267.4(RANBP2):c.8670C>T (p.Ala2890=) http://identifiers.org/clinvar/383886 ^@ NM_001271208.1(NEB):c.15827C>T (p.Pro5276Leu) http://identifiers.org/clinvar/388938 ^@ NM_001165963.1(SCN1A):c.603-20G>A http://identifiers.org/clinvar/378508 ^@ NM_001165963.1(SCN1A):c.579C>T (p.Leu193=) http://identifiers.org/clinvar/380107 ^@ NM_006267.4(RANBP2):c.9585C>T (p.Gly3195=) http://identifiers.org/clinvar/378505 ^@ NM_001165963.1(SCN1A):c.265-4A>G http://identifiers.org/clinvar/383422 ^@ NM_004522.2(KIF5C):c.2023+17C>T http://identifiers.org/clinvar/393093 ^@ NM_004522.2(KIF5C):c.2497A>G (p.Lys833Glu) http://identifiers.org/clinvar/388327 ^@ NM_001165963.1(SCN1A):c.90A>G (p.Ala30=) http://identifiers.org/clinvar/393040 ^@ NM_002977.3(SCN9A):c.5174G>C (p.Gly1725Ala) http://identifiers.org/clinvar/387231 ^@ NM_001271208.1(NEB):c.15456G>C (p.Leu5152=) http://identifiers.org/clinvar/385231 ^@ NM_004522.2(KIF5C):c.2586G>C (p.Leu862=) http://identifiers.org/clinvar/384293 ^@ NM_001271208.1(NEB):c.15399C>T (p.Val5133=) http://identifiers.org/clinvar/392031 ^@ NM_145693.3(LPIN1):c.734C>A (p.Ser245Tyr) http://identifiers.org/clinvar/385503 ^@ NM_139343.2(BIN1):c.858-1466T>C http://identifiers.org/clinvar/388062 ^@ NM_001271208.1(NEB):c.24369G>A (p.Met8123Ile) http://identifiers.org/clinvar/388862 ^@ NM_002977.3(SCN9A):c.3507C>T (p.Asn1169=) http://identifiers.org/clinvar/388693 ^@ NM_001271208.1(NEB):c.15031T>C (p.Leu5011=) http://identifiers.org/clinvar/385687 ^@ NM_001271208.1(NEB):c.14098-10C>T http://identifiers.org/clinvar/386572 ^@ NM_001271208.1(NEB):c.22479+20G>C http://identifiers.org/clinvar/378566 ^@ NM_002977.3(SCN9A):c.2931C>T (p.Leu977=) http://identifiers.org/clinvar/392443 ^@ NM_002977.3(SCN9A):c.2679G>A (p.Thr893=) http://identifiers.org/clinvar/387140 ^@ NM_003742.2(ABCB11):c.3618+9G>A http://identifiers.org/clinvar/386743 ^@ NM_001271208.1(NEB):c.13779A>G (p.Leu4593=) http://identifiers.org/clinvar/387835 ^@ NM_001271208.1(NEB):c.21902C>T (p.Pro7301Leu) http://identifiers.org/clinvar/386126 ^@ NM_139343.2(BIN1):c.416G>A (p.Arg139His) http://identifiers.org/clinvar/388692 ^@ NM_001271208.1(NEB):c.13573T>C (p.Leu4525=) http://identifiers.org/clinvar/386995 ^@ NM_012233.2(RAB3GAP1):c.2798C>T (p.Pro933Leu) http://identifiers.org/clinvar/383648 ^@ NM_003742.2(ABCB11):c.2815-17T>G http://identifiers.org/clinvar/383625 ^@ NM_003742.2(ABCB11):c.279C>T (p.Tyr93=) http://identifiers.org/clinvar/382469 ^@ NM_003742.2(ABCB11):c.167C>T (p.Ser56Leu) http://identifiers.org/clinvar/383111 ^@ NM_000079.3(CHRNA1):c.621C>T (p.Ser207=) http://identifiers.org/clinvar/381100 ^@ NM_001256850.1(TTN):c.98763C>T (p.Phe32921=) http://identifiers.org/clinvar/389438 ^@ NM_001271208.1(NEB):c.10420T>C (p.Leu3474=) http://identifiers.org/clinvar/385973 ^@ NM_001256850.1(TTN):c.98313C>T (p.Ile32771=) http://identifiers.org/clinvar/393007 ^@ NM_001271208.1(NEB):c.20956G>C (p.Asp6986His) http://identifiers.org/clinvar/380521 ^@ NM_001349.3(DARS):c.1417T>C (p.Leu473=) http://identifiers.org/clinvar/388061 ^@ NM_001271208.1(NEB):c.10377C>T (p.Asp3459=) http://identifiers.org/clinvar/383481 ^@ NM_001349.3(DARS):c.1308A>G (p.Gln436=) http://identifiers.org/clinvar/388220 ^@ NM_001271208.1(NEB):c.10347+18A>G http://identifiers.org/clinvar/390796 ^@ NM_001271208.1(NEB):c.19557C>T (p.His6519=) http://identifiers.org/clinvar/390980 ^@ NM_001256850.1(TTN):c.97959A>G (p.Ser32653=) http://identifiers.org/clinvar/378831 ^@ NM_001256850.1(TTN):c.93195T>C (p.Leu31065=) http://identifiers.org/clinvar/390005 ^@ NM_001271208.1(NEB):c.16654G>C (p.Asp5552His) http://identifiers.org/clinvar/388479 ^@ NM_001256850.1(TTN):c.93069C>T (p.His31023=) http://identifiers.org/clinvar/387861 ^@ NM_001271208.1(NEB):c.16569G>A (p.Val5523=) http://identifiers.org/clinvar/382452 ^@ NM_001349.3(DARS):c.218-20G>T http://identifiers.org/clinvar/378829 ^@ NM_001256850.1(TTN):c.89670G>A (p.Ala29890=) http://identifiers.org/clinvar/389012 ^@ NM_001271208.1(NEB):c.16189C>T (p.Arg5397Cys) http://identifiers.org/clinvar/384294 ^@ NM_001271208.1(NEB):c.16090C>T (p.Arg5364Cys) http://identifiers.org/clinvar/388581 ^@ NM_001271208.1(NEB):c.15934G>A (p.Asp5312Asn) http://identifiers.org/clinvar/387590 ^@ NM_001256850.1(TTN):c.86348-1G>A http://identifiers.org/clinvar/383255 ^@ NM_001271208.1(NEB):c.15602A>G (p.Asp5201Gly) http://identifiers.org/clinvar/379231 ^@ NM_001271208.1(NEB):c.9619-2A>G http://identifiers.org/clinvar/383118 ^@ NM_001271208.1(NEB):c.9354A>G (p.Thr3118=) http://identifiers.org/clinvar/390852 ^@ NM_001271208.1(NEB):c.15555+11C>T http://identifiers.org/clinvar/387603 ^@ NM_001256850.1(TTN):c.86301C>T (p.Ser28767=) http://identifiers.org/clinvar/380762 ^@ NM_001256850.1(TTN):c.86142A>G (p.Glu28714=) http://identifiers.org/clinvar/386988 ^@ NM_001271208.1(NEB):c.9139C>A (p.His3047Asn) http://identifiers.org/clinvar/390040 ^@ NM_001271208.1(NEB):c.14938C>G (p.Leu4980Val) http://identifiers.org/clinvar/378827 ^@ NM_001256850.1(TTN):c.83972-18C>T http://identifiers.org/clinvar/386744 ^@ NM_001271208.1(NEB):c.14807A>G (p.Asn4936Ser) http://identifiers.org/clinvar/389992 ^@ NM_001349.3(DARS):c.124+15G>T http://identifiers.org/clinvar/387362 ^@ NM_001271208.1(NEB):c.14597A>G (p.Lys4866Arg) http://identifiers.org/clinvar/383451 ^@ NM_001271208.1(NEB):c.14563T>C (p.Leu4855=) http://identifiers.org/clinvar/387314 ^@ NM_014795.3(ZEB2):c.*6T>G http://identifiers.org/clinvar/389100 ^@ NM_001271208.1(NEB):c.13788+18G>A http://identifiers.org/clinvar/390758 ^@ NM_001256850.1(TTN):c.82572C>T (p.Asp27524=) http://identifiers.org/clinvar/378268 ^@ NM_001271208.1(NEB):c.7696C>T (p.Arg2566Trp) http://identifiers.org/clinvar/385673 ^@ NM_014795.3(ZEB2):c.3153C>T (p.Gly1051=) http://identifiers.org/clinvar/383738 ^@ NM_001271208.1(NEB):c.13411T>A (p.Tyr4471Asn) http://identifiers.org/clinvar/392823 ^@ NM_001271208.1(NEB):c.12808C>A (p.Gln4270Lys) http://identifiers.org/clinvar/380206 ^@ NM_001256850.1(TTN):c.80591T>G (p.Leu26864Ter) http://identifiers.org/clinvar/388785 ^@ NM_001256850.1(TTN):c.72618C>T (p.Thr24206=) http://identifiers.org/clinvar/391060 ^@ NM_001271208.1(NEB):c.12639+11C>T http://identifiers.org/clinvar/389566 ^@ NM_001271208.1(NEB):c.6278T>C (p.Val2093Ala) http://identifiers.org/clinvar/389787 ^@ NM_001271208.1(NEB):c.11067C>T (p.Asn3689=) http://identifiers.org/clinvar/389580 ^@ NM_001256850.1(TTN):c.72537A>C (p.Pro24179=) http://identifiers.org/clinvar/389761 ^@ NM_001256850.1(TTN):c.71451A>T (p.Pro23817=) http://identifiers.org/clinvar/387081 ^@ NM_001271208.1(NEB):c.4434C>T (p.Thr1478=) http://identifiers.org/clinvar/391550 ^@ NM_001271208.1(NEB):c.4398A>G (p.Ala1466=) http://identifiers.org/clinvar/384148 ^@ NM_001271208.1(NEB):c.9346G>A (p.Glu3116Lys) http://identifiers.org/clinvar/391109 ^@ NM_001271208.1(NEB):c.2604G>T (p.Leu868=) http://identifiers.org/clinvar/382872 ^@ NM_001271208.1(NEB):c.1974T>C (p.Asp658=) http://identifiers.org/clinvar/383981 ^@ NM_001271208.1(NEB):c.7176T>C (p.Pro2392=) http://identifiers.org/clinvar/387293 ^@ NM_001271208.1(NEB):c.6615C>G (p.Arg2205=) http://identifiers.org/clinvar/392697 ^@ NM_001256850.1(TTN):c.66744T>C (p.Ser22248=) http://identifiers.org/clinvar/388949 ^@ NM_001271208.1(NEB):c.1056T>C (p.Tyr352=) http://identifiers.org/clinvar/387292 ^@ NM_001271208.1(NEB):c.6166A>G (p.Arg2056Gly) http://identifiers.org/clinvar/384145 ^@ NM_014795.3(ZEB2):c.2907A>G (p.Ala969=) http://identifiers.org/clinvar/378870 ^@ NM_014795.3(ZEB2):c.2457A>G (p.Ser819=) http://identifiers.org/clinvar/388853 ^@ NM_001271208.1(NEB):c.1035+16C>A http://identifiers.org/clinvar/388030 ^@ NM_014795.3(ZEB2):c.1288C>T (p.Pro430Ser) http://identifiers.org/clinvar/389442 ^@ NM_001271208.1(NEB):c.1366-12T>G http://identifiers.org/clinvar/391453 ^@ NM_001256850.1(TTN):c.65457G>A (p.Leu21819=) http://identifiers.org/clinvar/381948 ^@ NM_000726.4(CACNB4):c.1026A>G (p.Leu342=) http://identifiers.org/clinvar/379497 ^@ NM_001256850.1(TTN):c.63575C>G (p.Ser21192Ter) http://identifiers.org/clinvar/384411 ^@ NM_001256850.1(TTN):c.61846+1G>A http://identifiers.org/clinvar/377620 ^@ NM_000726.4(CACNB4):c.222A>T (p.Arg74=) http://identifiers.org/clinvar/386034 ^@ NM_001256850.1(TTN):c.59749+11T>A http://identifiers.org/clinvar/382196 ^@ NM_000726.4(CACNB4):c.618+20T>C http://identifiers.org/clinvar/389958 ^@ NM_001256850.1(TTN):c.59283C>T (p.Ile19761=) http://identifiers.org/clinvar/382910 ^@ NM_001083112.2(GPD2):c.233G>A (p.Gly78Glu) http://identifiers.org/clinvar/386063 ^@ NM_001256850.1(TTN):c.56577C>A (p.Val18859=) http://identifiers.org/clinvar/389320 ^@ NM_014795.3(ZEB2):c.564G>A (p.Thr188=) http://identifiers.org/clinvar/381095 ^@ NM_000726.4(CACNB4):c.54C>A (p.Pro18=) http://identifiers.org/clinvar/387317 ^@ NM_015909.3(NBAS):c.1948C>T (p.Pro650Ser) http://identifiers.org/clinvar/379273 ^@ NM_005378.5(MYCN):c.658G>T (p.Ala220Ser) http://identifiers.org/clinvar/392845 ^@ NM_014795.3(ZEB2):c.222G>A (p.Val74=) http://identifiers.org/clinvar/385230 ^@ NM_014795.3(ZEB2):c.89A>G (p.Asn30Ser) http://identifiers.org/clinvar/390732 ^@ NM_001256850.1(TTN):c.51831G>T (p.Gly17277=) http://identifiers.org/clinvar/379624 ^@ NM_001256850.1(TTN):c.51128-12T>A http://identifiers.org/clinvar/380737 ^@ NM_021007.2(SCN2A):c.489A>G (p.Thr163=) http://identifiers.org/clinvar/385326 ^@ NM_001083112.2(GPD2):c.852A>G (p.Lys284=) http://identifiers.org/clinvar/385125 ^@ NM_001256850.1(TTN):c.50082G>A (p.Val16694=) http://identifiers.org/clinvar/391613 ^@ NM_021007.2(SCN2A):c.1028A>T (p.Asp343Val) http://identifiers.org/clinvar/381063 ^@ NM_014795.3(ZEB2):c.-18T>G http://identifiers.org/clinvar/378527 ^@ NM_021007.2(SCN2A):c.2388+9C>A http://identifiers.org/clinvar/378113 ^@ NM_018328.4(MBD5):c.-933G>A http://identifiers.org/clinvar/385391 ^@ NM_005378.5(MYCN):c.681C>T (p.Ala227=) http://identifiers.org/clinvar/393285 ^@ NM_022168.3(IFIH1):c.1229T>C (p.Ile410Thr) http://identifiers.org/clinvar/390534 ^@ NM_018328.4(MBD5):c.-693A>G http://identifiers.org/clinvar/385757 ^@ NM_018328.4(MBD5):c.102G>T (p.Val34=) http://identifiers.org/clinvar/387723 ^@ NM_022168.3(IFIH1):c.1032G>A (p.Lys344=) http://identifiers.org/clinvar/378529 ^@ NM_021007.2(SCN2A):c.2706C>G (p.Leu902=) http://identifiers.org/clinvar/391174 ^@ NM_001256850.1(TTN):c.48807A>G (p.Glu16269=) http://identifiers.org/clinvar/391839 ^@ NM_022168.3(IFIH1):c.274G>A (p.Ala92Thr) http://identifiers.org/clinvar/390533 ^@ NM_021007.2(SCN2A):c.270G>A (p.Thr90=) http://identifiers.org/clinvar/384481 ^@ NM_018328.4(MBD5):c.1911G>T (p.Gly637=) http://identifiers.org/clinvar/392633 ^@ NM_021007.2(SCN2A):c.2767T>C (p.Trp923Arg) http://identifiers.org/clinvar/383880 ^@ NM_021007.2(SCN2A):c.3015T>C (p.Ile1005=) http://identifiers.org/clinvar/393195 ^@ NM_018328.4(MBD5):c.2437C>T (p.Gln813Ter) http://identifiers.org/clinvar/379369 ^@ NM_001256850.1(TTN):c.46816+20G>A http://identifiers.org/clinvar/389217 ^@ NM_021007.2(SCN2A):c.672A>G (p.Ala224=) http://identifiers.org/clinvar/379841 ^@ NM_021007.2(SCN2A):c.698-20C>T http://identifiers.org/clinvar/392770 ^@ NM_001256850.1(TTN):c.45325+6C>G http://identifiers.org/clinvar/384270 ^@ NM_018328.4(MBD5):c.3138C>T (p.Asn1046=) http://identifiers.org/clinvar/386551 ^@ NM_021007.2(SCN2A):c.1038G>A (p.Gln346=) http://identifiers.org/clinvar/378524 ^@ NM_021007.2(SCN2A):c.1200G>T (p.Thr400=) http://identifiers.org/clinvar/390820 ^@ NM_001256850.1(TTN):c.44889G>T (p.Gly14963=) http://identifiers.org/clinvar/387172 ^@ NM_001256850.1(TTN):c.42393A>G (p.Arg14131=) http://identifiers.org/clinvar/389226 ^@ NM_021007.2(SCN2A):c.2150-10T>G http://identifiers.org/clinvar/378526 ^@ NM_021007.2(SCN2A):c.2352G>A (p.Thr784=) http://identifiers.org/clinvar/385743 ^@ NM_018328.4(MBD5):c.3500C>T (p.Pro1167Leu) http://identifiers.org/clinvar/390480 ^@ NM_021007.2(SCN2A):c.2990A>G (p.Asp997Gly) http://identifiers.org/clinvar/378532 ^@ NM_021007.2(SCN2A):c.3399+14A>C http://identifiers.org/clinvar/386993 ^@ NM_001256850.1(TTN):c.41754A>G (p.Arg13918=) http://identifiers.org/clinvar/387496 ^@ NM_001256850.1(TTN):c.39396C>A (p.Val13132=) http://identifiers.org/clinvar/381988 ^@ NM_021007.2(SCN2A):c.3255T>C (p.Tyr1085=) http://identifiers.org/clinvar/389841 ^@ NM_018328.4(MBD5):c.3892A>C (p.Ser1298Arg) http://identifiers.org/clinvar/388433 ^@ NM_018328.4(MBD5):c.4050T>C (p.Pro1350=) http://identifiers.org/clinvar/386562 ^@ NM_021007.2(SCN2A):c.3676-20T>C http://identifiers.org/clinvar/383825 ^@ NM_021007.2(SCN2A):c.4782G>C (p.Trp1594Cys) http://identifiers.org/clinvar/378118 ^@ NM_018328.4(MBD5):c.4188G>A (p.Leu1396=) http://identifiers.org/clinvar/379254 ^@ NM_021007.2(SCN2A):c.3956G>T (p.Arg1319Leu) http://identifiers.org/clinvar/391368 ^@ NM_021007.2(SCN2A):c.3985G>T (p.Ala1329Ser) http://identifiers.org/clinvar/380921 ^@ NM_004522.2(KIF5C):c.501+8G>A http://identifiers.org/clinvar/390311 ^@ NM_001256850.1(TTN):c.38265A>G (p.Lys12755=) http://identifiers.org/clinvar/380389 ^@ NM_021007.2(SCN2A):c.4904G>A (p.Arg1635Gln) http://identifiers.org/clinvar/379732 ^@ NM_021007.2(SCN2A):c.5121G>A (p.Leu1707=) http://identifiers.org/clinvar/380833 ^@ NM_004522.2(KIF5C):c.531T>C (p.Pro177=) http://identifiers.org/clinvar/382903 ^@ NM_004522.2(KIF5C):c.2169C>T (p.Asp723=) http://identifiers.org/clinvar/379425 ^@ NM_021007.2(SCN2A):c.5319G>A (p.Ala1773=) http://identifiers.org/clinvar/378817 ^@ NM_001256850.1(TTN):c.36004+16C>T http://identifiers.org/clinvar/391393 ^@ NM_024753.4(TTC21B):c.2967A>G (p.Leu989=) http://identifiers.org/clinvar/379762 ^@ NM_024753.4(TTC21B):c.1965G>A (p.Arg655=) http://identifiers.org/clinvar/386566 ^@ NM_024753.4(TTC21B):c.1116G>A (p.Gly372=) http://identifiers.org/clinvar/382530 ^@ NM_021007.2(SCN2A):c.5127A>G (p.Gln1709=) http://identifiers.org/clinvar/380472 ^@ NM_024753.4(TTC21B):c.588T>G (p.Gly196=) http://identifiers.org/clinvar/388073 ^@ NM_001256850.1(TTN):c.35189-15C>T http://identifiers.org/clinvar/390336 ^@ NM_001256850.1(TTN):c.35188+14C>T http://identifiers.org/clinvar/378518 ^@ NM_001165963.1(SCN1A):c.5763T>C (p.Ile1921=) http://identifiers.org/clinvar/383894 ^@ NM_001165963.1(SCN1A):c.5127C>A (p.Thr1709=) http://identifiers.org/clinvar/385796 ^@ NM_015702.2(MMADHC):c.-55C>G http://identifiers.org/clinvar/388187 ^@ NM_001256850.1(TTN):c.35076C>A (p.Pro11692=) http://identifiers.org/clinvar/391762 ^@ NM_001165963.1(SCN1A):c.5053G>T (p.Ala1685Ser) http://identifiers.org/clinvar/386245 ^@ NM_001256850.1(TTN):c.34191G>A (p.Pro11397=) http://identifiers.org/clinvar/380317 ^@ NM_001256850.1(TTN):c.34106-9T>A http://identifiers.org/clinvar/379482 ^@ NM_021007.2(SCN2A):c.5697G>A (p.Thr1899=) http://identifiers.org/clinvar/386383 ^@ NM_001165963.1(SCN1A):c.5739A>G (p.Lys1913=) http://identifiers.org/clinvar/378814 ^@ NM_001256850.1(TTN):c.32875+17T>A http://identifiers.org/clinvar/382273 ^@ NM_001165963.1(SCN1A):c.4980C>T (p.Leu1660=) http://identifiers.org/clinvar/388529 ^@ NM_001165963.1(SCN1A):c.4791T>C (p.His1597=) http://identifiers.org/clinvar/383629 ^@ NM_001165963.1(SCN1A):c.4582-4A>C http://identifiers.org/clinvar/379180 ^@ NM_001165963.1(SCN1A):c.4923T>C (p.Ala1641=) http://identifiers.org/clinvar/381568 ^@ NM_001165963.1(SCN1A):c.4913T>A (p.Ile1638Asn) http://identifiers.org/clinvar/381999 ^@ NM_001271208.1(NEB):c.24592-4A>G http://identifiers.org/clinvar/383223 ^@ NM_001165963.1(SCN1A):c.4003-15C>T http://identifiers.org/clinvar/380238 ^@ NM_001271208.1(NEB):c.24161C>T (p.Pro8054Leu) http://identifiers.org/clinvar/388055 ^@ NM_001165963.1(SCN1A):c.4582-12A>G http://identifiers.org/clinvar/383652 ^@ NM_001256850.1(TTN):c.29482+15A>T http://identifiers.org/clinvar/383819 ^@ NM_001165963.1(SCN1A):c.3968C>A (p.Pro1323His) http://identifiers.org/clinvar/378515 ^@ NM_001165963.1(SCN1A):c.3888G>A (p.Leu1296=) http://identifiers.org/clinvar/392678 ^@ NM_001256850.1(TTN):c.28218T>C (p.Gly9406=) http://identifiers.org/clinvar/381486 ^@ NM_001256850.1(TTN):c.27219C>T (p.Leu9073=) http://identifiers.org/clinvar/379212 ^@ NM_001256850.1(TTN):c.26322C>T (p.Cys8774=) http://identifiers.org/clinvar/391523 ^@ NM_001165963.1(SCN1A):c.3525T>G (p.Leu1175=) http://identifiers.org/clinvar/387820 ^@ NM_001256850.1(TTN):c.24112+18C>T http://identifiers.org/clinvar/388170 ^@ NM_001165963.1(SCN1A):c.3480C>A (p.Gly1160=) http://identifiers.org/clinvar/385788 ^@ NM_001256850.1(TTN):c.24009C>T (p.Ser8003=) http://identifiers.org/clinvar/378516 ^@ NM_001165963.1(SCN1A):c.4167C>T (p.Asp1389=) http://identifiers.org/clinvar/388973 ^@ NM_001256850.1(TTN):c.24006T>C (p.Ala8002=) http://identifiers.org/clinvar/387886 ^@ NM_001165963.1(SCN1A):c.3105A>G (p.Gln1035=) http://identifiers.org/clinvar/391718 ^@ NM_001165963.1(SCN1A):c.2554G>A (p.Val852Met) http://identifiers.org/clinvar/378514 ^@ NM_001165963.1(SCN1A):c.3630G>A (p.Thr1210=) http://identifiers.org/clinvar/392701 ^@ NM_001165963.1(SCN1A):c.2229C>G (p.Asn743Lys) http://identifiers.org/clinvar/383323 ^@ NM_001256850.1(TTN):c.21015G>A (p.Pro7005=) http://identifiers.org/clinvar/391708 ^@ NM_001256850.1(TTN):c.20691C>T (p.Asn6897=) http://identifiers.org/clinvar/382297 ^@ NM_001165963.1(SCN1A):c.2715C>T (p.Ala905=) http://identifiers.org/clinvar/392446 ^@ NM_001165963.1(SCN1A):c.1759G>A (p.Glu587Lys) http://identifiers.org/clinvar/390459 ^@ NM_001271208.1(NEB):c.23847+11T>C http://identifiers.org/clinvar/378512 ^@ NM_001165963.1(SCN1A):c.1663-3T>C http://identifiers.org/clinvar/385238 ^@ NM_001271208.1(NEB):c.21208-11G>A http://identifiers.org/clinvar/378807 ^@ NM_001256850.1(TTN):c.19885+18C>T http://identifiers.org/clinvar/391468 ^@ NM_001256850.1(TTN):c.10905G>T (p.Gly3635=) http://identifiers.org/clinvar/384007 ^@ NM_001165963.1(SCN1A):c.2649C>T (p.Ile883=) http://identifiers.org/clinvar/390046 ^@ NM_001256850.1(TTN):c.10440A>G (p.Thr3480=) http://identifiers.org/clinvar/389503 ^@ NM_001165963.1(SCN1A):c.2322C>A (p.Ile774=) http://identifiers.org/clinvar/378979 ^@ NM_001256850.1(TTN):c.10361-5199A>C http://identifiers.org/clinvar/392745 ^@ NM_001165963.1(SCN1A):c.1548T>C (p.Asp516=) http://identifiers.org/clinvar/387439 ^@ NM_001256850.1(TTN):c.10360+3483T>C http://identifiers.org/clinvar/385505 ^@ NM_001271208.1(NEB):c.20682+13G>A http://identifiers.org/clinvar/381119 ^@ NM_001165963.1(SCN1A):c.1098T>C (p.Asp366=) http://identifiers.org/clinvar/393038 ^@ NM_001165963.1(SCN1A):c.1069A>T (p.Asn357Tyr) http://identifiers.org/clinvar/387027 ^@ NM_001271208.1(NEB):c.19315-4A>G http://identifiers.org/clinvar/392344 ^@ NM_001256850.1(TTN):c.9762G>A (p.Lys3254=) http://identifiers.org/clinvar/388694 ^@ NM_001271208.1(NEB):c.18653G>A (p.Gly6218Asp) http://identifiers.org/clinvar/378509 ^@ NM_001165963.1(SCN1A):c.870T>C (p.His290=) http://identifiers.org/clinvar/378513 ^@ NM_001165963.1(SCN1A):c.2044-20A>G http://identifiers.org/clinvar/392868 ^@ NM_001165963.1(SCN1A):c.1988C>T (p.Pro663Leu) http://identifiers.org/clinvar/388623 ^@ NM_001256850.1(TTN):c.7818G>A (p.Ala2606=) http://identifiers.org/clinvar/393000 ^@ NM_001165963.1(SCN1A):c.1170+5G>C http://identifiers.org/clinvar/390676 ^@ NM_001165963.1(SCN1A):c.1150T>A (p.Trp384Arg) http://identifiers.org/clinvar/378799 ^@ NM_001256850.1(TTN):c.2775+18C>T http://identifiers.org/clinvar/392504 ^@ NM_001165963.1(SCN1A):c.993A>C (p.Leu331Phe) http://identifiers.org/clinvar/382823 ^@ NM_001256850.1(TTN):c.2505C>T (p.Ala835=) http://identifiers.org/clinvar/379109 ^@ NM_001256850.1(TTN):c.1537-18T>C http://identifiers.org/clinvar/386391 ^@ NM_001165963.1(SCN1A):c.144C>A (p.Gly48=) http://identifiers.org/clinvar/389306 ^@ NM_002977.3(SCN9A):c.4108C>A (p.Arg1370=) http://identifiers.org/clinvar/385451 ^@ NM_001271208.1(NEB):c.18471+20A>G http://identifiers.org/clinvar/386747 ^@ NM_001271208.1(NEB):c.17520G>A (p.Ala5840=) http://identifiers.org/clinvar/381276 ^@ NM_002977.3(SCN9A):c.3195T>A (p.Gly1065=) http://identifiers.org/clinvar/378510 ^@ NM_001165963.1(SCN1A):c.965-21C>T http://identifiers.org/clinvar/387100 ^@ NM_001165963.1(SCN1A):c.861G>A (p.Leu287=) http://identifiers.org/clinvar/387818 ^@ NM_002977.3(SCN9A):c.3174C>T (p.His1058=) http://identifiers.org/clinvar/381506 ^@ NM_001165963.1(SCN1A):c.852T>C (p.Asn284=) http://identifiers.org/clinvar/378798 ^@ NM_001256850.1(TTN):c.1185C>T (p.Ala395=) http://identifiers.org/clinvar/378898 ^@ NM_001165963.1(SCN1A):c.657A>T (p.Arg219Ser) http://identifiers.org/clinvar/393158 ^@ NM_002977.3(SCN9A):c.2942T>C (p.Val981Ala) http://identifiers.org/clinvar/382224 ^@ NM_002977.3(SCN9A):c.2601C>T (p.Phe867=) http://identifiers.org/clinvar/385534 ^@ NM_000090.3(COL3A1):c.123T>C (p.Asp41=) http://identifiers.org/clinvar/384277 ^@ NM_001271208.1(NEB):c.15387C>T (p.Phe5129=) http://identifiers.org/clinvar/383462 ^@ NM_001165963.1(SCN1A):c.560G>A (p.Arg187Gln) http://identifiers.org/clinvar/382739 ^@ NM_001271208.1(NEB):c.15138G>C (p.Gln5046His) http://identifiers.org/clinvar/382797 ^@ NM_003742.2(ABCB11):c.*6T>A http://identifiers.org/clinvar/389400 ^@ NM_003742.2(ABCB11):c.2011+18A>G http://identifiers.org/clinvar/378507 ^@ NM_001165963.1(SCN1A):c.474-13T>A http://identifiers.org/clinvar/378506 ^@ NM_001165963.1(SCN1A):c.429G>A (p.Val143=) http://identifiers.org/clinvar/385649 ^@ NM_000090.3(COL3A1):c.334-4T>A http://identifiers.org/clinvar/381616 ^@ NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) http://identifiers.org/clinvar/384345 ^@ NM_000090.3(COL3A1):c.1106G>A (p.Gly369Glu) http://identifiers.org/clinvar/393283 ^@ NM_004525.2(LRP2):c.2987G>T (p.Arg996Leu) http://identifiers.org/clinvar/391071 ^@ NM_000523.3(HOXD13):c.541A>G (p.Asn181Asp) http://identifiers.org/clinvar/380886 ^@ NM_001271208.1(NEB):c.14992G>A (p.Ala4998Thr) http://identifiers.org/clinvar/392836 ^@ NM_000090.3(COL3A1):c.1484G>C (p.Gly495Ala) http://identifiers.org/clinvar/382768 ^@ NM_001271208.1(NEB):c.14353G>A (p.Gly4785Arg) http://identifiers.org/clinvar/378833 ^@ NM_001256850.1(TTN):c.100413G>A (p.Lys33471=) http://identifiers.org/clinvar/382689 ^@ NM_001165963.1(SCN1A):c.72T>C (p.Ala24=) http://identifiers.org/clinvar/384265 ^@ NM_001271208.1(NEB):c.14049T>C (p.Asp4683=) http://identifiers.org/clinvar/383127 ^@ NM_001271208.1(NEB):c.13376A>G (p.Tyr4459Cys) http://identifiers.org/clinvar/378565 ^@ NM_002977.3(SCN9A):c.2311-20A>T http://identifiers.org/clinvar/382223 ^@ NM_002977.3(SCN9A):c.467+12T>A http://identifiers.org/clinvar/382241 ^@ NM_001256850.1(TTN):c.98340G>A (p.Leu32780=) http://identifiers.org/clinvar/377717 ^@ NM_000090.3(COL3A1):c.1854A>T (p.Gly618=) http://identifiers.org/clinvar/391626 ^@ NM_000090.3(COL3A1):c.2283+19G>A http://identifiers.org/clinvar/381367 ^@ NM_001256850.1(TTN):c.96714T>C (p.His32238=) http://identifiers.org/clinvar/377718 ^@ NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) http://identifiers.org/clinvar/392540 ^@ NM_001256850.1(TTN):c.92872+12T>C http://identifiers.org/clinvar/392507 ^@ NM_000090.3(COL3A1):c.2709G>A (p.Gly903=) http://identifiers.org/clinvar/393091 ^@ NM_001271208.1(NEB):c.11461A>T (p.Met3821Leu) http://identifiers.org/clinvar/385170 ^@ NM_000090.3(COL3A1):c.3201+8C>A http://identifiers.org/clinvar/382398 ^@ NM_003742.2(ABCB11):c.1083+18A>T http://identifiers.org/clinvar/381993 ^@ NM_000090.3(COL3A1):c.3202-17G>A http://identifiers.org/clinvar/388193 ^@ NM_001271208.1(NEB):c.11078G>A (p.Arg3693His) http://identifiers.org/clinvar/388493 ^@ NM_001256850.1(TTN):c.92319T>C (p.Ala30773=) http://identifiers.org/clinvar/381718 ^@ NM_003742.2(ABCB11):c.936G>T (p.Gln312His) http://identifiers.org/clinvar/378830 ^@ NM_001256850.1(TTN):c.92270-16T>G http://identifiers.org/clinvar/391619 ^@ NM_000090.3(COL3A1):c.3440C>T (p.Pro1147Leu) http://identifiers.org/clinvar/386194 ^@ NM_001256850.1(TTN):c.92229T>C (p.Val30743=) http://identifiers.org/clinvar/391514 ^@ NM_000393.4(COL5A2):c.4114-17A>G http://identifiers.org/clinvar/386039 ^@ NM_000393.4(COL5A2):c.3472-16T>C http://identifiers.org/clinvar/377737 ^@ NM_000393.4(COL5A2):c.3309+16A>G http://identifiers.org/clinvar/381717 ^@ NM_003742.2(ABCB11):c.851T>C (p.Val284Ala) http://identifiers.org/clinvar/385531 ^@ NM_000393.4(COL5A2):c.3162T>C (p.Asn1054=) http://identifiers.org/clinvar/387182 ^@ NM_000393.4(COL5A2):c.2841T>A (p.Pro947=) http://identifiers.org/clinvar/383646 ^@ NM_003659.3(AGPS):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/382175 ^@ NM_001256850.1(TTN):c.102441C>T (p.Ser34147=) http://identifiers.org/clinvar/393071 ^@ NM_000393.4(COL5A2):c.2839C>A (p.Pro947Thr) http://identifiers.org/clinvar/386777 ^@ NM_001256850.1(TTN):c.91626T>C (p.Asn30542=) http://identifiers.org/clinvar/390015 ^@ NM_001256850.1(TTN):c.99045G>C (p.Gly33015=) http://identifiers.org/clinvar/380131 ^@ NM_001256850.1(TTN):c.94366+19T>C http://identifiers.org/clinvar/380413 ^@ NM_001256850.1(TTN):c.90171C>T (p.Ala30057=) http://identifiers.org/clinvar/389368 ^@ NM_001256850.1(TTN):c.92472C>T (p.Thr30824=) http://identifiers.org/clinvar/390777 ^@ NM_001256850.1(TTN):c.86334T>C (p.Ala28778=) http://identifiers.org/clinvar/380309 ^@ NM_000393.4(COL5A2):c.2715+11T>C http://identifiers.org/clinvar/390643 ^@ NM_001256850.1(TTN):c.89905+17A>G http://identifiers.org/clinvar/387840 ^@ NM_001256850.1(TTN):c.86061A>T (p.Pro28687=) http://identifiers.org/clinvar/392248 ^@ NM_000393.4(COL5A2):c.2072A>C (p.Lys691Thr) http://identifiers.org/clinvar/378828 ^@ NM_001256850.1(TTN):c.87318T>C (p.Gly29106=) http://identifiers.org/clinvar/387589 ^@ NM_001256850.1(TTN):c.85167A>G (p.Val28389=) http://identifiers.org/clinvar/389967 ^@ NM_001256850.1(TTN):c.84852T>C (p.Thr28284=) http://identifiers.org/clinvar/388856 ^@ NM_000393.4(COL5A2):c.1105-11T>G http://identifiers.org/clinvar/384430 ^@ NM_001271208.1(NEB):c.9619-20C>T http://identifiers.org/clinvar/378826 ^@ NM_001256850.1(TTN):c.82848C>A (p.Gly27616=) http://identifiers.org/clinvar/385220 ^@ NM_001271208.1(NEB):c.8995-14T>C http://identifiers.org/clinvar/387860 ^@ NM_001271208.1(NEB):c.8373+13G>A http://identifiers.org/clinvar/389218 ^@ NM_001271208.1(NEB):c.8064T>C (p.His2688=) http://identifiers.org/clinvar/385521 ^@ NM_000393.4(COL5A2):c.568-15A>G http://identifiers.org/clinvar/379823 ^@ NM_001256850.1(TTN):c.83671+2T>G http://identifiers.org/clinvar/391988 ^@ NM_001256850.1(TTN):c.80904A>G (p.Arg26968=) http://identifiers.org/clinvar/390148 ^@ NM_000393.4(COL5A2):c.323-15C>G http://identifiers.org/clinvar/384909 ^@ NM_001256850.1(TTN):c.79728C>T (p.Ser26576=) http://identifiers.org/clinvar/388579 ^@ NM_001256850.1(TTN):c.83384-18C>T http://identifiers.org/clinvar/389392 ^@ NM_001256850.1(TTN):c.74019T>C (p.Asp24673=) http://identifiers.org/clinvar/391639 ^@ NM_001256850.1(TTN):c.82890C>T (p.Gly27630=) http://identifiers.org/clinvar/391110 ^@ NM_001271208.1(NEB):c.6808-11T>C http://identifiers.org/clinvar/389567 ^@ NM_001256850.1(TTN):c.73140C>T (p.Pro24380=) http://identifiers.org/clinvar/386130 ^@ NM_001256850.1(TTN):c.81612C>T (p.Thr27204=) http://identifiers.org/clinvar/391186 ^@ NM_001256850.1(TTN):c.80145A>G (p.Arg26715=) http://identifiers.org/clinvar/389666 ^@ NM_001256850.1(TTN):c.72289C>T (p.Gln24097Ter) http://identifiers.org/clinvar/393212 ^@ NM_001256850.1(TTN):c.79118C>G (p.Ser26373Ter) http://identifiers.org/clinvar/380409 ^@ NM_001256850.1(TTN):c.67941A>G (p.Thr22647=) http://identifiers.org/clinvar/389250 ^@ NM_001256850.1(TTN):c.65613G>A (p.Glu21871=) http://identifiers.org/clinvar/392514 ^@ NM_001256850.1(TTN):c.78126G>A (p.Lys26042=) http://identifiers.org/clinvar/384489 ^@ NM_001271208.1(NEB):c.5032-15T>C http://identifiers.org/clinvar/386834 ^@ NM_000393.4(COL5A2):c.322+18C>G http://identifiers.org/clinvar/391994 ^@ NM_001256850.1(TTN):c.76642C>T (p.Leu25548=) http://identifiers.org/clinvar/385868 ^@ NM_001271208.1(NEB):c.2637+17A>G http://identifiers.org/clinvar/378825 ^@ NM_001256850.1(TTN):c.64707C>T (p.Tyr21569=) http://identifiers.org/clinvar/390126 ^@ NM_001256850.1(TTN):c.74421G>T (p.Val24807=) http://identifiers.org/clinvar/391149 ^@ NM_000393.4(COL5A2):c.153G>A (p.Arg51=) http://identifiers.org/clinvar/392699 ^@ NM_001256850.1(TTN):c.63681C>T (p.Asp21227=) http://identifiers.org/clinvar/392654 ^@ NM_001271208.1(NEB):c.2415+1G>T http://identifiers.org/clinvar/385839 ^@ NM_001271208.1(NEB):c.1713A>G (p.Lys571=) http://identifiers.org/clinvar/389827 ^@ NM_001256850.1(TTN):c.62664T>C (p.Asn20888=) http://identifiers.org/clinvar/377621 ^@ NM_000726.4(CACNB4):c.599-16C>T http://identifiers.org/clinvar/391833 ^@ NM_000393.4(COL5A2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/388331 ^@ NM_001256850.1(TTN):c.59520G>A (p.Gly19840=) http://identifiers.org/clinvar/382149 ^@ NM_001256850.1(TTN):c.59136T>C (p.Asp19712=) http://identifiers.org/clinvar/389537 ^@ NM_001256850.1(TTN):c.68520C>A (p.Tyr22840Ter) http://identifiers.org/clinvar/392358 ^@ NM_001256850.1(TTN):c.66336C>T (p.Asn22112=) http://identifiers.org/clinvar/382560 ^@ NM_005378.5(MYCN):c.813A>G (p.Glu271=) http://identifiers.org/clinvar/379543 ^@ NM_005378.5(MYCN):c.1196C>T (p.Ser399Phe) http://identifiers.org/clinvar/381730 ^@ NM_014585.5(SLC40A1):c.263G>C (p.Arg88Thr) http://identifiers.org/clinvar/390256 ^@ NM_014362.3(HIBCH):c.882G>A (p.Glu294=) http://identifiers.org/clinvar/384158 ^@ NM_001256850.1(TTN):c.53227+17A>G http://identifiers.org/clinvar/389906 ^@ NM_001256850.1(TTN):c.52662C>T (p.Asn17554=) http://identifiers.org/clinvar/390575 ^@ NM_001256850.1(TTN):c.64818G>A (p.Pro21606=) http://identifiers.org/clinvar/387475 ^@ NM_001256850.1(TTN):c.61540+13G>T http://identifiers.org/clinvar/380069 ^@ NM_014362.3(HIBCH):c.-44C>T http://identifiers.org/clinvar/392944 ^@ NM_012293.2(PXDN):c.4126C>T (p.Arg1376Cys) http://identifiers.org/clinvar/379838 ^@ NM_006922.3(SCN3A):c.3998C>T (p.Pro1333Leu) http://identifiers.org/clinvar/378824 ^@ NM_001256850.1(TTN):c.52189-4C>T http://identifiers.org/clinvar/379182 ^@ NM_001256850.1(TTN):c.52040-18T>C http://identifiers.org/clinvar/388621 ^@ NM_001256850.1(TTN):c.61365A>G (p.Glu20455=) http://identifiers.org/clinvar/378523 ^@ NM_021007.2(SCN2A):c.432A>G (p.Val144=) http://identifiers.org/clinvar/391270 ^@ NM_001256850.1(TTN):c.58560A>G (p.Glu19520=) http://identifiers.org/clinvar/379181 ^@ NM_001256850.1(TTN):c.52040-19G>T http://identifiers.org/clinvar/385545 ^@ NM_001256850.1(TTN):c.55810C>T (p.Arg18604Ter) http://identifiers.org/clinvar/378927 ^@ NM_021007.2(SCN2A):c.781G>A (p.Val261Met) http://identifiers.org/clinvar/378931 ^@ NM_021007.2(SCN2A):c.2083T>C (p.Leu695=) http://identifiers.org/clinvar/392848 ^@ NM_001256850.1(TTN):c.53376T>G (p.Thr17792=) http://identifiers.org/clinvar/381589 ^@ NM_001256850.1(TTN):c.51883C>T (p.Arg17295Ter) http://identifiers.org/clinvar/379984 ^@ NM_014362.3(HIBCH):c.-48G>A http://identifiers.org/clinvar/388707 ^@ NM_001256850.1(TTN):c.49566T>G (p.Pro16522=) http://identifiers.org/clinvar/378528 ^@ NM_021007.2(SCN2A):c.2388+12T>C http://identifiers.org/clinvar/380388 ^@ NM_001256850.1(TTN):c.47967C>T (p.Thr15989=) http://identifiers.org/clinvar/387243 ^@ NM_021007.2(SCN2A):c.2541A>T (p.Ser847=) http://identifiers.org/clinvar/377778 ^@ NM_018897.2(DNAH7):c.3059T>C (p.Ile1020Thr) http://identifiers.org/clinvar/379746 ^@ NM_001256850.1(TTN):c.47934C>A (p.Cys15978Ter) http://identifiers.org/clinvar/378823 ^@ NM_001256850.1(TTN):c.48177T>G (p.Pro16059=) http://identifiers.org/clinvar/379648 ^@ NM_138395.3(MARS2):c.1287C>T (p.Phe429=) http://identifiers.org/clinvar/388153 ^@ NM_138395.3(MARS2):c.1410T>C (p.Tyr470=) http://identifiers.org/clinvar/390453 ^@ NM_001256850.1(TTN):c.45432-15T>C http://identifiers.org/clinvar/390050 ^@ NM_001256850.1(TTN):c.47163T>C (p.Cys15721=) http://identifiers.org/clinvar/390125 ^@ NM_001256850.1(TTN):c.46683A>G (p.Val15561=) http://identifiers.org/clinvar/384157 ^@ NM_001256850.1(TTN):c.45234T>C (p.Ser15078=) http://identifiers.org/clinvar/379325 ^@ NM_138395.3(MARS2):c.1775G>A (p.Arg592Gln) http://identifiers.org/clinvar/390254 ^@ NM_021007.2(SCN2A):c.2875T>C (p.Cys959Arg) http://identifiers.org/clinvar/386634 ^@ NM_001256850.1(TTN):c.46092T>C (p.Asn15364=) http://identifiers.org/clinvar/391185 ^@ NM_001256850.1(TTN):c.44364C>T (p.Asn14788=) http://identifiers.org/clinvar/393251 ^@ NM_001256850.1(TTN):c.44126-13A>G http://identifiers.org/clinvar/379749 ^@ NM_001256850.1(TTN):c.42210A>G (p.Ala14070=) http://identifiers.org/clinvar/378821 ^@ NM_001256850.1(TTN):c.39625+9A>G http://identifiers.org/clinvar/378822 ^@ NM_001256850.1(TTN):c.42953-18A>C http://identifiers.org/clinvar/391717 ^@ NM_015265.3(SATB2):c.1481A>T (p.Glu494Val) http://identifiers.org/clinvar/378250 ^@ NM_002491.2(NDUFB3):c.-3+316A>G http://identifiers.org/clinvar/391527 ^@ NM_001256850.1(TTN):c.41506+12G>A http://identifiers.org/clinvar/382291 ^@ NM_001256850.1(TTN):c.37638A>C (p.Val12546=) http://identifiers.org/clinvar/387167 ^@ NM_001204.6(BMPR2):c.1427T>G (p.Leu476Arg) http://identifiers.org/clinvar/393030 ^@ NM_001256850.1(TTN):c.35711-1G>A http://identifiers.org/clinvar/384155 ^@ NM_001256850.1(TTN):c.39232-10G>C http://identifiers.org/clinvar/389048 ^@ NM_001256850.1(TTN):c.35364G>A (p.Pro11788=) http://identifiers.org/clinvar/392354 ^@ NM_001256850.1(TTN):c.34775-18G>T http://identifiers.org/clinvar/378905 ^@ NM_001256850.1(TTN):c.38598T>C (p.Thr12866=) http://identifiers.org/clinvar/378253 ^@ NM_005006.6(NDUFS1):c.1262+17A>G http://identifiers.org/clinvar/378812 ^@ NM_001256850.1(TTN):c.32713+20C>T http://identifiers.org/clinvar/378819 ^@ NM_001256850.1(TTN):c.38290+16C>T http://identifiers.org/clinvar/380967 ^@ NM_005006.6(NDUFS1):c.348G>A (p.Val116=) http://identifiers.org/clinvar/388679 ^@ NM_001256850.1(TTN):c.32325G>A (p.Glu10775=) http://identifiers.org/clinvar/391414 ^@ NM_001256850.1(TTN):c.38223G>A (p.Leu12741=) http://identifiers.org/clinvar/377853 ^@ NM_014929.3(FASTKD2):c.777+18T>C http://identifiers.org/clinvar/379213 ^@ NM_001256850.1(TTN):c.37764C>T (p.Ala12588=) http://identifiers.org/clinvar/381701 ^@ NM_021007.2(SCN2A):c.3520+11C>T http://identifiers.org/clinvar/378811 ^@ NM_001256850.1(TTN):c.32175C>T (p.Val10725=) http://identifiers.org/clinvar/378810 ^@ NM_001256850.1(TTN):c.31098A>G (p.Lys10366=) http://identifiers.org/clinvar/383261 ^@ NM_021007.2(SCN2A):c.3852C>T (p.Val1284=) http://identifiers.org/clinvar/378818 ^@ NM_001256850.1(TTN):c.36962-16T>C http://identifiers.org/clinvar/387882 ^@ NM_021007.2(SCN2A):c.4309-10T>C http://identifiers.org/clinvar/385180 ^@ NM_001256850.1(TTN):c.36099C>T (p.Phe12033=) http://identifiers.org/clinvar/390098 ^@ NM_001256850.1(TTN):c.26547G>T (p.Ser8849=) http://identifiers.org/clinvar/392648 ^@ NM_001256850.1(TTN):c.34858G>T (p.Val11620Leu) http://identifiers.org/clinvar/378815 ^@ NM_001256850.1(TTN):c.34774+16T>C http://identifiers.org/clinvar/388698 ^@ NM_001256850.1(TTN):c.34170A>G (p.Lys11390=) http://identifiers.org/clinvar/391932 ^@ NM_021007.2(SCN2A):c.4748T>C (p.Ile1583Thr) http://identifiers.org/clinvar/390897 ^@ NM_014929.3(FASTKD2):c.1080T>C (p.Leu360=) http://identifiers.org/clinvar/391796 ^@ NM_014929.3(FASTKD2):c.1389C>T (p.Tyr463=) http://identifiers.org/clinvar/382123 ^@ NM_014929.3(FASTKD2):c.1813+14T>C http://identifiers.org/clinvar/388198 ^@ NM_021007.2(SCN2A):c.4860G>A (p.Val1620=) http://identifiers.org/clinvar/378890 ^@ NM_021007.2(SCN2A):c.5574A>G (p.Leu1858=) http://identifiers.org/clinvar/386347 ^@ NM_001256850.1(TTN):c.26295T>C (p.Asp8765=) http://identifiers.org/clinvar/392185 ^@ NM_032504.1(UNC80):c.9418C>T (p.Pro3140Ser) http://identifiers.org/clinvar/381104 ^@ NM_001256850.1(TTN):c.32622A>G (p.Pro10874=) http://identifiers.org/clinvar/390496 ^@ NM_000384.2(APOB):c.2817-19T>G http://identifiers.org/clinvar/391744 ^@ NM_001256850.1(TTN):c.32214G>A (p.Pro10738=) http://identifiers.org/clinvar/388978 ^@ NM_001256850.1(TTN):c.26098+10C>A http://identifiers.org/clinvar/390950 ^@ NM_001256850.1(TTN):c.31937-19G>A http://identifiers.org/clinvar/378535 ^@ NM_021007.2(SCN2A):c.5817A>G (p.Glu1939=) http://identifiers.org/clinvar/392759 ^@ NM_001165963.1(SCN1A):c.5896G>T (p.Glu1966Ter) http://identifiers.org/clinvar/391716 ^@ NM_000384.2(APOB):c.307T>C (p.Tyr103His) http://identifiers.org/clinvar/389263 ^@ NM_001256850.1(TTN):c.30320-13A>T http://identifiers.org/clinvar/378809 ^@ NM_001256850.1(TTN):c.29560+3G>A http://identifiers.org/clinvar/385790 ^@ NM_001256850.1(TTN):c.23937T>C (p.Ser7979=) http://identifiers.org/clinvar/378916 ^@ NM_001165963.1(SCN1A):c.4521C>T (p.Tyr1507=) http://identifiers.org/clinvar/388981 ^@ NM_001256850.1(TTN):c.22134G>T (p.Ala7378=) http://identifiers.org/clinvar/383903 ^@ NM_001875.4(CPS1):c.381+17C>T http://identifiers.org/clinvar/381906 ^@ NM_001256850.1(TTN):c.28626A>G (p.Gln9542=) http://identifiers.org/clinvar/378517 ^@ NM_001165963.1(SCN1A):c.4338+12T>C http://identifiers.org/clinvar/380629 ^@ NM_001165963.1(SCN1A):c.3717T>C (p.Asp1239=) http://identifiers.org/clinvar/388784 ^@ NM_001256850.1(TTN):c.28431A>G (p.Gln9477=) http://identifiers.org/clinvar/379534 ^@ NM_001165963.1(SCN1A):c.3430-7C>A http://identifiers.org/clinvar/381569 ^@ NM_001165963.1(SCN1A):c.2819C>T (p.Ser940Phe) http://identifiers.org/clinvar/382067 ^@ NM_001875.4(CPS1):c.712-16T>C http://identifiers.org/clinvar/387745 ^@ NM_001875.4(CPS1):c.712-11C>T http://identifiers.org/clinvar/391587 ^@ NM_001256850.1(TTN):c.26397G>A (p.Lys8799=) http://identifiers.org/clinvar/386613 ^@ NM_001875.4(CPS1):c.1878G>T (p.Val626=) http://identifiers.org/clinvar/392676 ^@ NM_001256850.1(TTN):c.25532-7A>C http://identifiers.org/clinvar/381325 ^@ NM_001256850.1(TTN):c.18197-19A>G http://identifiers.org/clinvar/385711 ^@ NM_001256850.1(TTN):c.22709-7C>T http://identifiers.org/clinvar/387398 ^@ NM_001256850.1(TTN):c.17298T>C (p.Ile5766=) http://identifiers.org/clinvar/391554 ^@ NM_001256850.1(TTN):c.16005C>T (p.Tyr5335=) http://identifiers.org/clinvar/378806 ^@ NM_001256850.1(TTN):c.16789+17T>C http://identifiers.org/clinvar/391432 ^@ NM_001875.4(CPS1):c.2829+20C>G http://identifiers.org/clinvar/382785 ^@ NM_001875.4(CPS1):c.3033G>C (p.Val1011=) http://identifiers.org/clinvar/378998 ^@ NM_000465.3(BARD1):c.2247G>A (p.Arg749=) http://identifiers.org/clinvar/378805 ^@ NM_001256850.1(TTN):c.15630C>T (p.Val5210=) http://identifiers.org/clinvar/391173 ^@ NM_001256850.1(TTN):c.16008T>C (p.Asp5336=) http://identifiers.org/clinvar/389156 ^@ NM_001256850.1(TTN):c.14382C>T (p.Asp4794=) http://identifiers.org/clinvar/388122 ^@ NM_000465.3(BARD1):c.2163A>C (p.Ala721=) http://identifiers.org/clinvar/379051 ^@ NM_001256850.1(TTN):c.14055T>C (p.His4685=) http://identifiers.org/clinvar/384461 ^@ NM_000465.3(BARD1):c.2097G>A (p.Gly699=) http://identifiers.org/clinvar/391520 ^@ NM_001256850.1(TTN):c.12633T>C (p.Tyr4211=) http://identifiers.org/clinvar/388667 ^@ NM_000465.3(BARD1):c.2034T>C (p.Tyr678=) http://identifiers.org/clinvar/388246 ^@ NM_000465.3(BARD1):c.1811-18G>C http://identifiers.org/clinvar/388713 ^@ NM_000465.3(BARD1):c.1593C>T (p.Val531=) http://identifiers.org/clinvar/390867 ^@ NM_001256850.1(TTN):c.13284G>A (p.Lys4428=) http://identifiers.org/clinvar/388589 ^@ NM_001256850.1(TTN):c.12567A>G (p.Glu4189=) http://identifiers.org/clinvar/385539 ^@ NM_001256850.1(TTN):c.11381C>G (p.Ala3794Gly) http://identifiers.org/clinvar/381953 ^@ NM_001165963.1(SCN1A):c.1170+16C>T http://identifiers.org/clinvar/385318 ^@ NM_000465.3(BARD1):c.1479A>G (p.Gln493=) http://identifiers.org/clinvar/379324 ^@ NM_001256850.1(TTN):c.10360+2316A>T http://identifiers.org/clinvar/391145 ^@ NM_001256850.1(TTN):c.10524A>G (p.Glu3508=) http://identifiers.org/clinvar/386139 ^@ NM_000465.3(BARD1):c.1425G>A (p.Lys475=) http://identifiers.org/clinvar/378804 ^@ NM_001256850.1(TTN):c.10361-4333T>C http://identifiers.org/clinvar/390660 ^@ NM_001256850.1(TTN):c.8955T>G (p.Thr2985=) http://identifiers.org/clinvar/388162 ^@ NM_000465.3(BARD1):c.364+18C>G http://identifiers.org/clinvar/378925 ^@ NM_001256850.1(TTN):c.8902+18T>A http://identifiers.org/clinvar/385601 ^@ NM_000465.3(BARD1):c.158+5A>G http://identifiers.org/clinvar/389558 ^@ NM_001256850.1(TTN):c.5850C>T (p.His1950=) http://identifiers.org/clinvar/378511 ^@ NM_001165963.1(SCN1A):c.1029-12C>T http://identifiers.org/clinvar/388909 ^@ NM_000465.3(BARD1):c.15G>C (p.Arg5=) http://identifiers.org/clinvar/391557 ^@ NM_001256850.1(TTN):c.5022C>G (p.Ala1674=) http://identifiers.org/clinvar/393026 ^@ NM_001256850.1(TTN):c.4274C>T (p.Ala1425Val) http://identifiers.org/clinvar/386540 ^@ NM_000465.3(BARD1):c.-23G>A http://identifiers.org/clinvar/379355 ^@ NM_001165963.1(SCN1A):c.235G>A (p.Asp79Asn) http://identifiers.org/clinvar/378801 ^@ NM_001256850.1(TTN):c.10360+2530C>A http://identifiers.org/clinvar/390354 ^@ NM_001256850.1(TTN):c.9305+15C>A http://identifiers.org/clinvar/388095 ^@ NM_002977.3(SCN9A):c.798G>A (p.Leu266=) http://identifiers.org/clinvar/391080 ^@ NM_001256850.1(TTN):c.7516C>T (p.Arg2506Ter) http://identifiers.org/clinvar/384753 ^@ NM_003742.2(ABCB11):c.3768G>A (p.Thr1256=) http://identifiers.org/clinvar/378800 ^@ NM_001256850.1(TTN):c.5295C>T (p.Gly1765=) http://identifiers.org/clinvar/391162 ^@ NM_001256850.1(TTN):c.4208+18T>C http://identifiers.org/clinvar/391797 ^@ NM_003742.2(ABCB11):c.3412-13C>T http://identifiers.org/clinvar/387171 ^@ NM_001256850.1(TTN):c.3798A>C (p.Thr1266=) http://identifiers.org/clinvar/388614 ^@ NM_173076.2(ABCA12):c.130C>T (p.Arg44Trp) http://identifiers.org/clinvar/390854 ^@ NM_001256850.1(TTN):c.3524-3T>C http://identifiers.org/clinvar/393210 ^@ NM_001256850.1(TTN):c.2573C>A (p.Ser858Ter) http://identifiers.org/clinvar/380305 ^@ NM_001256850.1(TTN):c.1662+6T>A http://identifiers.org/clinvar/392774 ^@ NM_001256850.1(TTN):c.189T>G (p.Ala63=) http://identifiers.org/clinvar/389262 ^@ NM_001256850.1(TTN):c.4851C>T (p.Ile1617=) http://identifiers.org/clinvar/382082 ^@ NM_003742.2(ABCB11):c.2907G>A (p.Lys969=) http://identifiers.org/clinvar/392887 ^@ NM_014140.3(SMARCAL1):c.2448C>A (p.Asp816Glu) http://identifiers.org/clinvar/380757 ^@ NM_000090.3(COL3A1):c.408C>G (p.Gly136=) http://identifiers.org/clinvar/384757 ^@ NM_000090.3(COL3A1):c.447+13C>T http://identifiers.org/clinvar/378854 ^@ NM_007127.2(VIL1):c.684C>A (p.His228Gln) http://identifiers.org/clinvar/384759 ^@ NM_004328.4(BCS1L):c.383C>T (p.Thr128Met) http://identifiers.org/clinvar/380563 ^@ NM_004525.2(LRP2):c.12244G>T (p.Glu4082Ter) http://identifiers.org/clinvar/392206 ^@ NM_000090.3(COL3A1):c.996+10T>A http://identifiers.org/clinvar/383329 ^@ NM_001256850.1(TTN):c.4740G>A (p.Thr1580=) http://identifiers.org/clinvar/389473 ^@ NM_004328.4(BCS1L):c.967G>A (p.Glu323Lys) http://identifiers.org/clinvar/387033 ^@ NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) http://identifiers.org/clinvar/392749 ^@ NM_001256850.1(TTN):c.2076+13G>A http://identifiers.org/clinvar/383538 ^@ NM_000090.3(COL3A1):c.2123G>C (p.Gly708Ala) http://identifiers.org/clinvar/391643 ^@ NM_000090.3(COL3A1):c.2337+13A>C http://identifiers.org/clinvar/385972 ^@ NM_001256850.1(TTN):c.1800+10T>C http://identifiers.org/clinvar/381742 ^@ NM_000090.3(COL3A1):c.2490G>C (p.Pro830=) http://identifiers.org/clinvar/388488 ^@ NM_000090.3(COL3A1):c.3201+9C>G http://identifiers.org/clinvar/390936 ^@ NM_000090.3(COL3A1):c.3630T>G (p.Gly1210=) http://identifiers.org/clinvar/392352 ^@ NM_001256850.1(TTN):c.295+6C>T http://identifiers.org/clinvar/392253 ^@ NM_004525.2(LRP2):c.2178G>T (p.Leu726Phe) http://identifiers.org/clinvar/382864 ^@ NM_001039550.1(DNAJB2):c.-36-11C>G http://identifiers.org/clinvar/378797 ^@ NM_001256850.1(TTN):c.189T>C (p.Ala63=) http://identifiers.org/clinvar/390101 ^@ NM_001256850.1(TTN):c.66C>T (p.Thr22=) http://identifiers.org/clinvar/382730 ^@ NM_001039550.1(DNAJB2):c.176-17C>G http://identifiers.org/clinvar/386539 ^@ NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) http://identifiers.org/clinvar/390344 ^@ NM_000393.4(COL5A2):c.4353+8C>G http://identifiers.org/clinvar/377780 ^@ NM_001039550.1(DNAJB2):c.787C>T (p.Leu263=) http://identifiers.org/clinvar/380408 ^@ NM_000090.3(COL3A1):c.546C>T (p.Pro182=) http://identifiers.org/clinvar/392327 ^@ NM_000393.4(COL5A2):c.4138C>T (p.Pro1380Ser) http://identifiers.org/clinvar/387788 ^@ NM_001927.3(DES):c.528C>G (p.Val176=) http://identifiers.org/clinvar/382245 ^@ NM_000090.3(COL3A1):c.552C>T (p.Pro184=) http://identifiers.org/clinvar/393156 ^@ NM_001927.3(DES):c.529G>A (p.Asp177Asn) http://identifiers.org/clinvar/382854 ^@ NM_001927.3(DES):c.640-17C>T http://identifiers.org/clinvar/377768 ^@ NM_001927.3(DES):c.736-19G>A http://identifiers.org/clinvar/381012 ^@ NM_000090.3(COL3A1):c.1510-18A>G http://identifiers.org/clinvar/385244 ^@ NM_000079.3(CHRNA1):c.1242+10G>A http://identifiers.org/clinvar/381627 ^@ NM_000079.3(CHRNA1):c.622G>A (p.Val208Met) http://identifiers.org/clinvar/378941 ^@ NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) http://identifiers.org/clinvar/378338 ^@ NM_016953.3(PDE11A):c.155G>C (p.Arg52Thr) http://identifiers.org/clinvar/379016 ^@ NM_001927.3(DES):c.897+8G>A http://identifiers.org/clinvar/391610 ^@ NM_000393.4(COL5A2):c.3544G>T (p.Gly1182Cys) http://identifiers.org/clinvar/382848 ^@ NM_000393.4(COL5A2):c.3373G>A (p.Gly1125Arg) http://identifiers.org/clinvar/377738 ^@ NM_000393.4(COL5A2):c.4443T>C (p.Asp1481=) http://identifiers.org/clinvar/385346 ^@ NM_001927.3(DES):c.*19A>G http://identifiers.org/clinvar/377735 ^@ NM_000393.4(COL5A2):c.2554-5T>C http://identifiers.org/clinvar/389477 ^@ NM_205847.2(GMPPA):c.750C>T (p.Ser250=) http://identifiers.org/clinvar/377734 ^@ NM_000393.4(COL5A2):c.1977+12T>G http://identifiers.org/clinvar/392252 ^@ NM_000393.4(COL5A2):c.1228C>T (p.Pro410Ser) http://identifiers.org/clinvar/393154 ^@ NM_000393.4(COL5A2):c.1181C>T (p.Ala394Val) http://identifiers.org/clinvar/377732 ^@ NM_000393.4(COL5A2):c.1017A>C (p.Gly339=) http://identifiers.org/clinvar/386088 ^@ NM_022915.3(MRPL44):c.801G>A (p.Leu267=) http://identifiers.org/clinvar/383747 ^@ NM_000393.4(COL5A2):c.1011G>A (p.Pro337=) http://identifiers.org/clinvar/392240 ^@ NM_000393.4(COL5A2):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/389846 ^@ NM_001256850.1(TTN):c.102917T>G (p.Ile34306Ser) http://identifiers.org/clinvar/378832 ^@ NM_001256850.1(TTN):c.99768G>A (p.Ser33256=) http://identifiers.org/clinvar/385803 ^@ NM_020194.5(MFF):c.38+14T>G http://identifiers.org/clinvar/385826 ^@ NM_000393.4(COL5A2):c.3039+15C>T http://identifiers.org/clinvar/385092 ^@ NM_000393.4(COL5A2):c.2769+10C>T http://identifiers.org/clinvar/382970 ^@ NM_014362.3(HIBCH):c.488G>C (p.Cys163Ser) http://identifiers.org/clinvar/379107 ^@ NM_000393.4(COL5A2):c.1977+12T>C http://identifiers.org/clinvar/384991 ^@ NM_014362.3(HIBCH):c.36-13A>T http://identifiers.org/clinvar/390700 ^@ NM_002156.4(HSPD1):c.1488A>G (p.Gln496=) http://identifiers.org/clinvar/380072 ^@ NM_020194.5(MFF):c.363G>A (p.Thr121=) http://identifiers.org/clinvar/383024 ^@ NM_020194.5(MFF):c.752+14C>T http://identifiers.org/clinvar/389338 ^@ NM_001256850.1(TTN):c.99411G>A (p.Thr33137=) http://identifiers.org/clinvar/389070 ^@ NM_001256850.1(TTN):c.98790T>C (p.Tyr32930=) http://identifiers.org/clinvar/392599 ^@ NM_025243.3(SLC19A3):c.1148A>G (p.Tyr383Cys) http://identifiers.org/clinvar/383268 ^@ NM_000393.4(COL5A2):c.1563+5A>G http://identifiers.org/clinvar/389105 ^@ NM_004369.3(COL6A3):c.8826G>A (p.Ala2942=) http://identifiers.org/clinvar/377733 ^@ NM_000393.4(COL5A2):c.1159-13T>C http://identifiers.org/clinvar/388176 ^@ NM_000393.4(COL5A2):c.1158+14G>A http://identifiers.org/clinvar/379723 ^@ NM_138395.3(MARS2):c.124G>A (p.Asp42Asn) http://identifiers.org/clinvar/386471 ^@ NM_004369.3(COL6A3):c.7878C>T (p.Ser2626=) http://identifiers.org/clinvar/384448 ^@ NM_000393.4(COL5A2):c.906+12C>G http://identifiers.org/clinvar/381575 ^@ NM_015265.3(SATB2):c.1165C>T (p.Arg389Cys) http://identifiers.org/clinvar/391314 ^@ NM_000393.4(COL5A2):c.745-13G>A http://identifiers.org/clinvar/386640 ^@ NM_001256850.1(TTN):c.93099C>T (p.Arg31033=) http://identifiers.org/clinvar/383356 ^@ NM_004369.3(COL6A3):c.6967-15C>T http://identifiers.org/clinvar/389656 ^@ NM_001256850.1(TTN):c.93003A>T (p.Val31001=) http://identifiers.org/clinvar/389131 ^@ NM_004369.3(COL6A3):c.4146G>A (p.Ser1382=) http://identifiers.org/clinvar/377730 ^@ NM_000393.4(COL5A2):c.567+17G>T http://identifiers.org/clinvar/388503 ^@ NM_001044385.2(TMEM237):c.74+16A>G http://identifiers.org/clinvar/390457 ^@ NM_001256850.1(TTN):c.91128A>G (p.Ala30376=) http://identifiers.org/clinvar/390746 ^@ NM_001256850.1(TTN):c.89541T>C (p.Ala29847=) http://identifiers.org/clinvar/382755 ^@ NM_004369.3(COL6A3):c.3936G>C (p.Val1312=) http://identifiers.org/clinvar/390039 ^@ NM_004369.3(COL6A3):c.3456C>T (p.Ser1152=) http://identifiers.org/clinvar/388387 ^@ NM_001256850.1(TTN):c.88945C>T (p.Leu29649=) http://identifiers.org/clinvar/386300 ^@ NM_004544.3(NDUFA10):c.1032C>T (p.Asn344=) http://identifiers.org/clinvar/392097 ^@ NM_020919.3(ALS2):c.2581-1G>C http://identifiers.org/clinvar/379877 ^@ NM_020919.3(ALS2):c.2337G>C (p.Leu779Phe) http://identifiers.org/clinvar/387508 ^@ NM_001256850.1(TTN):c.88011C>T (p.Phe29337=) http://identifiers.org/clinvar/380139 ^@ NM_001256850.1(TTN):c.87229+11G>A http://identifiers.org/clinvar/387520 ^@ NM_020919.3(ALS2):c.624T>G (p.Cys208Trp) http://identifiers.org/clinvar/379901 ^@ NM_000393.4(COL5A2):c.186T>C (p.Cys62=) http://identifiers.org/clinvar/380672 ^@ NM_004544.3(NDUFA10):c.1000-5C>G http://identifiers.org/clinvar/385802 ^@ NM_014362.3(HIBCH):c.1046-8C>T http://identifiers.org/clinvar/380988 ^@ NM_014929.3(FASTKD2):c.-70T>G http://identifiers.org/clinvar/383058 ^@ NM_014362.3(HIBCH):c.1038T>A (p.Val346=) http://identifiers.org/clinvar/383620 ^@ NM_004544.3(NDUFA10):c.547+18A>G http://identifiers.org/clinvar/386080 ^@ NM_014362.3(HIBCH):c.438+9A>T http://identifiers.org/clinvar/380559 ^@ NM_014362.3(HIBCH):c.214C>T (p.Leu72=) http://identifiers.org/clinvar/379127 ^@ NM_004544.3(NDUFA10):c.264A>G (p.Glu88=) http://identifiers.org/clinvar/379194 ^@ NM_014929.3(FASTKD2):c.756G>A (p.Gln252=) http://identifiers.org/clinvar/383824 ^@ NM_004321.7(KIF1A):c.4848G>T (p.Arg1616=) http://identifiers.org/clinvar/391612 ^@ NM_000384.2(APOB):c.3829C>T (p.Leu1277Phe) http://identifiers.org/clinvar/379986 ^@ NM_014362.3(HIBCH):c.136A>G (p.Thr46Ala) http://identifiers.org/clinvar/377751 ^@ NM_001875.4(CPS1):c.529-4A>T http://identifiers.org/clinvar/382961 ^@ NM_001875.4(CPS1):c.1165-5T>C http://identifiers.org/clinvar/382478 ^@ NM_001875.4(CPS1):c.2025C>T (p.Ala675=) http://identifiers.org/clinvar/391956 ^@ NM_020760.3(HECW2):c.2581C>T (p.Arg861Trp) http://identifiers.org/clinvar/392132 ^@ NM_002156.4(HSPD1):c.1464T>C (p.Ser488=) http://identifiers.org/clinvar/389996 ^@ NM_138395.3(MARS2):c.87C>T (p.Tyr29=) http://identifiers.org/clinvar/390817 ^@ NM_004321.7(KIF1A):c.4363-5C>T http://identifiers.org/clinvar/387312 ^@ NM_004321.7(KIF1A):c.3513+18C>T http://identifiers.org/clinvar/382660 ^@ NM_004321.7(KIF1A):c.3281+11T>C http://identifiers.org/clinvar/382569 ^@ NM_004321.7(KIF1A):c.2769C>G (p.Ser923=) http://identifiers.org/clinvar/385662 ^@ NM_001875.4(CPS1):c.3057T>C (p.Thr1019=) http://identifiers.org/clinvar/382387 ^@ NM_001875.4(CPS1):c.4300C>T (p.Leu1434=) http://identifiers.org/clinvar/378111 ^@ NM_138395.3(MARS2):c.1761G>T (p.Leu587=) http://identifiers.org/clinvar/380406 ^@ NM_004321.7(KIF1A):c.1742-9G>C http://identifiers.org/clinvar/388094 ^@ NM_004321.7(KIF1A):c.1180+513C>T http://identifiers.org/clinvar/389152 ^@ NM_001256850.1(TTN):c.84969A>T (p.Pro28323=) http://identifiers.org/clinvar/388296 ^@ NM_000465.3(BARD1):c.2274T>C (p.Ala758=) http://identifiers.org/clinvar/382122 ^@ NM_004321.7(KIF1A):c.258T>C (p.Phe86=) http://identifiers.org/clinvar/392433 ^@ NM_001006657.1(WDR35):c.1963C>G (p.Pro655Ala) http://identifiers.org/clinvar/379344 ^@ NM_001256850.1(TTN):c.82313C>G (p.Ser27438Ter) http://identifiers.org/clinvar/381945 ^@ NM_000465.3(BARD1):c.2259C>T (p.Gly753=) http://identifiers.org/clinvar/385385 ^@ NM_001044385.2(TMEM237):c.869+10A>G http://identifiers.org/clinvar/377555 ^@ NM_000465.3(BARD1):c.1678-20A>G http://identifiers.org/clinvar/388330 ^@ NM_004321.7(KIF1A):c.184-14T>C http://identifiers.org/clinvar/393199 ^@ NM_020919.3(ALS2):c.3415C>T (p.Arg1139Ter) http://identifiers.org/clinvar/389869 ^@ NM_004321.7(KIF1A):c.138G>A (p.Thr46=) http://identifiers.org/clinvar/390456 ^@ NM_001256850.1(TTN):c.81028C>T (p.Leu27010=) http://identifiers.org/clinvar/391574 ^@ NM_175629.2(DNMT3A):c.2213T>G (p.Leu738Arg) http://identifiers.org/clinvar/379924 ^@ NM_175629.2(DNMT3A):c.1684T>C (p.Cys562Arg) http://identifiers.org/clinvar/392979 ^@ NM_001256850.1(TTN):c.79491C>T (p.Ser26497=) http://identifiers.org/clinvar/388247 ^@ NM_005006.6(NDUFS1):c.933A>G (p.Lys311=) http://identifiers.org/clinvar/379143 ^@ NM_000465.3(BARD1):c.1677+17C>T http://identifiers.org/clinvar/388202 ^@ NM_001256850.1(TTN):c.79332C>A (p.Cys26444Ter) http://identifiers.org/clinvar/379884 ^@ NM_000465.3(BARD1):c.1205C>G (p.Ser402Ter) http://identifiers.org/clinvar/389480 ^@ NM_005006.6(NDUFS1):c.873-9G>A http://identifiers.org/clinvar/384466 ^@ NM_000465.3(BARD1):c.1062A>G (p.Ser354=) http://identifiers.org/clinvar/383266 ^@ NM_000465.3(BARD1):c.924T>G (p.Leu308=) http://identifiers.org/clinvar/386925 ^@ NM_000182.4(HADHA):c.1886-8T>C http://identifiers.org/clinvar/378251 ^@ NM_005006.6(NDUFS1):c.611T>C (p.Met204Thr) http://identifiers.org/clinvar/382375 ^@ NM_005006.6(NDUFS1):c.154-19T>C http://identifiers.org/clinvar/386060 ^@ NM_000182.4(HADHA):c.1488C>T (p.Gly496=) http://identifiers.org/clinvar/377554 ^@ NM_000465.3(BARD1):c.687T>C (p.Phe229=) http://identifiers.org/clinvar/385712 ^@ NM_001256850.1(TTN):c.74178T>C (p.Tyr24726=) http://identifiers.org/clinvar/390979 ^@ NM_001256850.1(TTN):c.73914A>G (p.Val24638=) http://identifiers.org/clinvar/389479 ^@ NM_005006.6(NDUFS1):c.153+9A>G http://identifiers.org/clinvar/377552 ^@ NM_000465.3(BARD1):c.364+17T>C http://identifiers.org/clinvar/391704 ^@ NM_194248.2(OTOF):c.5632G>A (p.Val1878Met) http://identifiers.org/clinvar/384052 ^@ NM_000465.3(BARD1):c.364+14C>T http://identifiers.org/clinvar/387978 ^@ NM_002437.4(MPV17):c.444G>A (p.Leu148=) http://identifiers.org/clinvar/377852 ^@ NM_014929.3(FASTKD2):c.66C>T (p.Gly22=) http://identifiers.org/clinvar/380292 ^@ NM_014929.3(FASTKD2):c.192T>C (p.Phe64=) http://identifiers.org/clinvar/385008 ^@ NM_014929.3(FASTKD2):c.1115-10A>G http://identifiers.org/clinvar/384812 ^@ NM_000384.2(APOB):c.12382G>A (p.Val4128Met) http://identifiers.org/clinvar/377551 ^@ NM_000465.3(BARD1):c.216-12A>C http://identifiers.org/clinvar/381247 ^@ NM_000465.3(BARD1):c.215+14G>A http://identifiers.org/clinvar/392127 ^@ NM_002437.4(MPV17):c.275A>C (p.Asp92Ala) http://identifiers.org/clinvar/379446 ^@ NM_015662.2(IFT172):c.4540-6C>T http://identifiers.org/clinvar/388531 ^@ NM_015662.2(IFT172):c.1525-6C>G http://identifiers.org/clinvar/390202 ^@ NM_000384.2(APOB):c.12016G>A (p.Val4006Ile) http://identifiers.org/clinvar/380167 ^@ NM_001875.4(CPS1):c.-78986G>A http://identifiers.org/clinvar/389021 ^@ NM_001875.4(CPS1):c.1131C>T (p.His377=) http://identifiers.org/clinvar/389590 ^@ NM_001875.4(CPS1):c.1437G>A (p.Ala479=) http://identifiers.org/clinvar/384070 ^@ NM_000465.3(BARD1):c.-12G>T http://identifiers.org/clinvar/387992 ^@ NM_001875.4(CPS1):c.2544C>T (p.Ser848=) http://identifiers.org/clinvar/389792 ^@ NM_001875.4(CPS1):c.3666+7A>G http://identifiers.org/clinvar/379555 ^@ NM_001256850.1(TTN):c.71942G>A (p.Trp23981Ter) http://identifiers.org/clinvar/385729 ^@ NM_173076.2(ABCA12):c.5831T>G (p.Leu1944Arg) http://identifiers.org/clinvar/387401 ^@ NM_001875.4(CPS1):c.3928-16T>C http://identifiers.org/clinvar/386498 ^@ NM_173076.2(ABCA12):c.2968A>G (p.Lys990Glu) http://identifiers.org/clinvar/392954 ^@ NM_015662.2(IFT172):c.1036C>T (p.Arg346Ter) http://identifiers.org/clinvar/380820 ^@ NM_015662.2(IFT172):c.337-12C>T http://identifiers.org/clinvar/383863 ^@ NM_015662.2(IFT172):c.-48C>T http://identifiers.org/clinvar/379926 ^@ NM_173076.2(ABCA12):c.2121+2T>G http://identifiers.org/clinvar/392886 ^@ NM_014140.3(SMARCAL1):c.1190T>C (p.Leu397Pro) http://identifiers.org/clinvar/392109 ^@ NM_004304.4(ALK):c.846C>T (p.Asp282=) http://identifiers.org/clinvar/387618 ^@ NM_000465.3(BARD1):c.2313G>A (p.Glu771=) http://identifiers.org/clinvar/387158 ^@ NM_014946.3(SPAST):c.1321+9A>G http://identifiers.org/clinvar/387645 ^@ NM_000465.3(BARD1):c.2217T>C (p.Tyr739=) http://identifiers.org/clinvar/382439 ^@ NM_014946.3(SPAST):c.1728+16A>G http://identifiers.org/clinvar/381524 ^@ NM_004328.4(BCS1L):c.385G>A (p.Gly129Arg) http://identifiers.org/clinvar/389732 ^@ NM_144736.4(NDUFAF7):c.324A>G (p.Glu108=) http://identifiers.org/clinvar/378247 ^@ NM_144736.4(NDUFAF7):c.678T>C (p.Phe226=) http://identifiers.org/clinvar/377558 ^@ NM_004328.4(BCS1L):c.461-9C>T http://identifiers.org/clinvar/381752 ^@ NM_005633.3(SOS1):c.*8T>C http://identifiers.org/clinvar/388131 ^@ NM_000465.3(BARD1):c.2160C>G (p.Val720=) http://identifiers.org/clinvar/377559 ^@ NM_004328.4(BCS1L):c.702C>T (p.Cys234=) http://identifiers.org/clinvar/383267 ^@ NM_000465.3(BARD1):c.1904-15T>C http://identifiers.org/clinvar/378635 ^@ NM_005633.3(SOS1):c.2964+17A>G http://identifiers.org/clinvar/390974 ^@ NM_001256850.1(TTN):c.71094T>C (p.Tyr23698=) http://identifiers.org/clinvar/378862 ^@ NM_025216.2(WNT10A):c.1168G>T (p.Glu390Ter) http://identifiers.org/clinvar/378272 ^@ NM_024782.2(NHEJ1):c.767A>T (p.Gln256Leu) http://identifiers.org/clinvar/389756 ^@ NM_001256850.1(TTN):c.70152T>C (p.Leu23384=) http://identifiers.org/clinvar/377779 ^@ NM_001039550.1(DNAJB2):c.195C>T (p.Tyr65=) http://identifiers.org/clinvar/386136 ^@ NM_000465.3(BARD1):c.1428A>G (p.Val476=) http://identifiers.org/clinvar/385299 ^@ NM_000465.3(BARD1):c.1195T>C (p.Leu399=) http://identifiers.org/clinvar/390489 ^@ NM_001256850.1(TTN):c.68787A>C (p.Ala22929=) http://identifiers.org/clinvar/388324 ^@ NM_001927.3(DES):c.258C>G (p.Gly86=) http://identifiers.org/clinvar/384445 ^@ NM_001927.3(DES):c.816C>T (p.Ala272=) http://identifiers.org/clinvar/381971 ^@ NM_000465.3(BARD1):c.918T>C (p.Asn306=) http://identifiers.org/clinvar/382847 ^@ NM_001927.3(DES):c.898-5C>T http://identifiers.org/clinvar/384758 ^@ NM_001927.3(DES):c.1257C>T (p.Pro419=) http://identifiers.org/clinvar/377553 ^@ NM_000465.3(BARD1):c.564T>G (p.Pro188=) http://identifiers.org/clinvar/386217 ^@ NM_001256850.1(TTN):c.64959C>T (p.Thr21653=) http://identifiers.org/clinvar/392680 ^@ NM_001256850.1(TTN):c.61449C>A (p.Thr20483=) http://identifiers.org/clinvar/381089 ^@ NM_001927.3(DES):c.1288+20C>T http://identifiers.org/clinvar/382008 ^@ NM_000465.3(BARD1):c.158+20G>C http://identifiers.org/clinvar/389994 ^@ NM_205847.2(GMPPA):c.40+13G>A http://identifiers.org/clinvar/384113 ^@ NM_005633.3(SOS1):c.2791+11C>G http://identifiers.org/clinvar/389948 ^@ NM_005633.3(SOS1):c.1863C>T (p.Pro621=) http://identifiers.org/clinvar/388627 ^@ NM_001256850.1(TTN):c.61237G>T (p.Asp20413Tyr) http://identifiers.org/clinvar/378633 ^@ NM_005633.3(SOS1):c.1202+5A>G http://identifiers.org/clinvar/392742 ^@ NM_001256850.1(TTN):c.60050-4C>G http://identifiers.org/clinvar/378632 ^@ NM_005633.3(SOS1):c.798A>C (p.Thr266=) http://identifiers.org/clinvar/380325 ^@ NM_000465.3(BARD1):c.158+20G>A http://identifiers.org/clinvar/382996 ^@ NM_205847.2(GMPPA):c.345T>C (p.Ala115=) http://identifiers.org/clinvar/384226 ^@ NM_205847.2(GMPPA):c.756-10C>T http://identifiers.org/clinvar/385576 ^@ NM_205847.2(GMPPA):c.858T>C (p.Asn286=) http://identifiers.org/clinvar/380091 ^@ NM_205847.2(GMPPA):c.945G>A (p.Glu315=) http://identifiers.org/clinvar/382109 ^@ NM_133259.3(LRPPRC):c.3275+7G>A http://identifiers.org/clinvar/379868 ^@ NM_022915.3(MRPL44):c.648+16T>C http://identifiers.org/clinvar/379195 ^@ NM_133259.3(LRPPRC):c.3030C>T (p.Asp1010=) http://identifiers.org/clinvar/387060 ^@ NM_020194.5(MFF):c.-8G>A http://identifiers.org/clinvar/381327 ^@ NM_000465.3(BARD1):c.142C>T (p.Leu48=) http://identifiers.org/clinvar/378097 ^@ NM_133259.3(LRPPRC):c.1842+10C>T http://identifiers.org/clinvar/391668 ^@ NM_133259.3(LRPPRC):c.1582+20G>A http://identifiers.org/clinvar/390180 ^@ NM_004328.4(BCS1L):c.-49-12C>G http://identifiers.org/clinvar/390197 ^@ NM_005413.3(SIX3):c.306G>A (p.Thr102=) http://identifiers.org/clinvar/379994 ^@ NM_020194.5(MFF):c.20G>T (p.Ser7Ile) http://identifiers.org/clinvar/392714 ^@ NM_000251.2(MSH2):c.84G>A (p.Glu28=) http://identifiers.org/clinvar/380986 ^@ NM_004328.4(BCS1L):c.171C>T (p.Asp57=) http://identifiers.org/clinvar/380592 ^@ NM_020194.5(MFF):c.*18A>G http://identifiers.org/clinvar/387942 ^@ NM_000251.2(MSH2):c.366+8T>C http://identifiers.org/clinvar/388604 ^@ NM_004369.3(COL6A3):c.8244G>A (p.Pro2748=) http://identifiers.org/clinvar/387667 ^@ NM_004328.4(BCS1L):c.725C>G (p.Ala242Gly) http://identifiers.org/clinvar/388787 ^@ NM_004369.3(COL6A3):c.7092+20T>C http://identifiers.org/clinvar/387442 ^@ NM_000251.2(MSH2):c.367-6A>G http://identifiers.org/clinvar/391936 ^@ NM_000251.2(MSH2):c.525G>A (p.Leu175=) http://identifiers.org/clinvar/381128 ^@ NM_000251.2(MSH2):c.804A>G (p.Ser268=) http://identifiers.org/clinvar/389160 ^@ NM_001256850.1(TTN):c.59819G>A (p.Trp19940Ter) http://identifiers.org/clinvar/385843 ^@ NM_004369.3(COL6A3):c.6592-16A>T http://identifiers.org/clinvar/389126 ^@ NM_004369.3(COL6A3):c.6310-18C>T http://identifiers.org/clinvar/385455 ^@ NM_000251.2(MSH2):c.1230T>C (p.Gly410=) http://identifiers.org/clinvar/385058 ^@ NM_004369.3(COL6A3):c.6283-15C>T http://identifiers.org/clinvar/384760 ^@ NM_004328.4(BCS1L):c.985A>G (p.Met329Val) http://identifiers.org/clinvar/390129 ^@ NM_001256850.1(TTN):c.58264+20T>C http://identifiers.org/clinvar/383490 ^@ NM_004328.4(BCS1L):c.999C>T (p.His333=) http://identifiers.org/clinvar/385056 ^@ NM_001039550.1(DNAJB2):c.-23C>T http://identifiers.org/clinvar/386197 ^@ NM_000251.2(MSH2):c.1296G>A (p.Leu432=) http://identifiers.org/clinvar/381497 ^@ NM_001256850.1(TTN):c.58257C>T (p.Asp19419=) http://identifiers.org/clinvar/392964 ^@ NM_001039550.1(DNAJB2):c.353-12T>A http://identifiers.org/clinvar/383256 ^@ NM_001256850.1(TTN):c.55731G>A (p.Thr18577=) http://identifiers.org/clinvar/389125 ^@ NM_004369.3(COL6A3):c.5265G>A (p.Ser1755=) http://identifiers.org/clinvar/386250 ^@ NM_001256850.1(TTN):c.50220C>T (p.Asp16740=) http://identifiers.org/clinvar/378888 ^@ NM_001256850.1(TTN):c.49889-13C>T http://identifiers.org/clinvar/380702 ^@ NM_001927.3(DES):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/390455 ^@ NM_001256850.1(TTN):c.49848C>T (p.Pro16616=) http://identifiers.org/clinvar/381324 ^@ NM_001927.3(DES):c.640-4C>G http://identifiers.org/clinvar/389763 ^@ NM_001256850.1(TTN):c.48372T>C (p.Pro16124=) http://identifiers.org/clinvar/382176 ^@ NM_001927.3(DES):c.1009G>A (p.Ala337Thr) http://identifiers.org/clinvar/388218 ^@ NM_004369.3(COL6A3):c.1898-17T>C http://identifiers.org/clinvar/392033 ^@ NM_004369.3(COL6A3):c.1275G>T (p.Arg425Ser) http://identifiers.org/clinvar/377769 ^@ NM_001927.3(DES):c.1217G>A (p.Arg406Gln) http://identifiers.org/clinvar/383245 ^@ NM_004369.3(COL6A3):c.576G>A (p.Pro192=) http://identifiers.org/clinvar/387125 ^@ NM_017552.3(ATAD2B):c.2215A>C (p.Lys739Gln) http://identifiers.org/clinvar/382822 ^@ NM_001927.3(DES):c.1244+17G>C http://identifiers.org/clinvar/392501 ^@ NM_006037.3(HDAC4):c.2257G>A (p.Gly753Ser) http://identifiers.org/clinvar/392491 ^@ NM_205847.2(GMPPA):c.138+8C>T http://identifiers.org/clinvar/378962 ^@ NM_000251.2(MSH2):c.1578C>G (p.Thr526=) http://identifiers.org/clinvar/389483 ^@ NM_004544.3(NDUFA10):c.*8G>T http://identifiers.org/clinvar/380527 ^@ NM_205847.2(GMPPA):c.768C>T (p.Tyr256=) http://identifiers.org/clinvar/390824 ^@ NM_001256850.1(TTN):c.44037T>C (p.Asp14679=) http://identifiers.org/clinvar/387759 ^@ NM_004544.3(NDUFA10):c.*3G>A http://identifiers.org/clinvar/384583 ^@ NM_004544.3(NDUFA10):c.548-15T>C http://identifiers.org/clinvar/388668 ^@ NM_000251.2(MSH2):c.1661+18A>G http://identifiers.org/clinvar/387611 ^@ NM_001256850.1(TTN):c.43992T>A (p.Ile14664=) http://identifiers.org/clinvar/385433 ^@ NM_205847.2(GMPPA):c.1206G>T (p.Ser402=) http://identifiers.org/clinvar/392483 ^@ NM_181457.3(PAX3):c.602C>G (p.Ser201Ter) http://identifiers.org/clinvar/390532 ^@ NM_001256850.1(TTN):c.40692T>A (p.Ile13564=) http://identifiers.org/clinvar/390968 ^@ NM_001256850.1(TTN):c.39910T>C (p.Leu13304=) http://identifiers.org/clinvar/379993 ^@ NM_020194.5(MFF):c.19A>T (p.Ser7Cys) http://identifiers.org/clinvar/387250 ^@ NM_020194.5(MFF):c.450A>G (p.Leu150=) http://identifiers.org/clinvar/384259 ^@ NM_004544.3(NDUFA10):c.461-3C>T http://identifiers.org/clinvar/386279 ^@ NM_020194.5(MFF):c.593+19T>G http://identifiers.org/clinvar/380073 ^@ NM_020194.5(MFF):c.921A>G (p.Leu307=) http://identifiers.org/clinvar/389198 ^@ NM_004544.3(NDUFA10):c.297A>G (p.Gly99=) http://identifiers.org/clinvar/383065 ^@ NM_025243.3(SLC19A3):c.387C>T (p.Ser129=) http://identifiers.org/clinvar/388633 ^@ NM_025243.3(SLC19A3):c.18T>A (p.Thr6=) http://identifiers.org/clinvar/380674 ^@ NM_025243.3(SLC19A3):c.-6G>T http://identifiers.org/clinvar/378820 ^@ NM_001256850.1(TTN):c.38781A>G (p.Val12927=) http://identifiers.org/clinvar/382255 ^@ NM_000251.2(MSH2):c.1661+19T>C http://identifiers.org/clinvar/379191 ^@ NM_000251.2(MSH2):c.2005+12G>A http://identifiers.org/clinvar/383190 ^@ NM_023083.3(CAPN10):c.1776C>T (p.Pro592=) http://identifiers.org/clinvar/383850 ^@ NM_000251.2(MSH2):c.2005+13G>C http://identifiers.org/clinvar/391637 ^@ NM_001256850.1(TTN):c.38023+11C>T http://identifiers.org/clinvar/381921 ^@ NM_000251.2(MSH2):c.2006-5T>C http://identifiers.org/clinvar/386851 ^@ NM_000751.2(CHRND):c.1048-7G>T http://identifiers.org/clinvar/381127 ^@ NM_000251.2(MSH2):c.2166C>T (p.Val722=) http://identifiers.org/clinvar/378156 ^@ NM_000251.2(MSH2):c.2277A>G (p.Gly759=) http://identifiers.org/clinvar/391584 ^@ NM_004369.3(COL6A3):c.9330T>A (p.Asp3110Glu) http://identifiers.org/clinvar/385720 ^@ NM_004321.7(KIF1A):c.4911+14C>T http://identifiers.org/clinvar/388550 ^@ NM_000251.2(MSH2):c.2458+17T>C http://identifiers.org/clinvar/390939 ^@ NM_001256850.1(TTN):c.37563T>C (p.Val12521=) http://identifiers.org/clinvar/378055 ^@ NM_004321.7(KIF1A):c.4718+16C>T http://identifiers.org/clinvar/389586 ^@ NM_001256850.1(TTN):c.36387G>A (p.Thr12129=) http://identifiers.org/clinvar/388175 ^@ NM_004321.7(KIF1A):c.2829C>A (p.Ile943=) http://identifiers.org/clinvar/378816 ^@ NM_001256850.1(TTN):c.35592G>A (p.Pro11864=) http://identifiers.org/clinvar/383567 ^@ NM_000251.2(MSH2):c.2458+19C>A http://identifiers.org/clinvar/380400 ^@ NM_001256850.1(TTN):c.34314G>A (p.Pro11438=) http://identifiers.org/clinvar/385567 ^@ NM_004321.7(KIF1A):c.2555+847C>T http://identifiers.org/clinvar/380727 ^@ NM_000251.2(MSH2):c.2459-9T>C http://identifiers.org/clinvar/380269 ^@ NM_001256850.1(TTN):c.34265-16A>G http://identifiers.org/clinvar/378157 ^@ NM_000251.2(MSH2):c.2667C>G (p.Ser889=) http://identifiers.org/clinvar/386877 ^@ NM_004369.3(COL6A3):c.8892G>A (p.Ala2964=) http://identifiers.org/clinvar/388347 ^@ NM_004321.7(KIF1A):c.2418-8C>T http://identifiers.org/clinvar/392451 ^@ NM_001256850.1(TTN):c.33809-13G>C http://identifiers.org/clinvar/388947 ^@ NM_004369.3(COL6A3):c.5839-9T>C http://identifiers.org/clinvar/392028 ^@ NM_004369.3(COL6A3):c.1530C>T (p.Thr510=) http://identifiers.org/clinvar/379084 ^@ NM_004321.7(KIF1A):c.1395-8T>C http://identifiers.org/clinvar/378964 ^@ NM_000251.2(MSH2):c.2745A>G (p.Val915=) http://identifiers.org/clinvar/379883 ^@ NM_000179.2(MSH6):c.-37C>A http://identifiers.org/clinvar/389932 ^@ NM_001256850.1(TTN):c.33181C>T (p.Leu11061=) http://identifiers.org/clinvar/389524 ^@ NM_004321.7(KIF1A):c.1394+19G>A http://identifiers.org/clinvar/378813 ^@ NM_001256850.1(TTN):c.32791+8C>T http://identifiers.org/clinvar/389463 ^@ NM_004321.7(KIF1A):c.1179C>T (p.Asp393=) http://identifiers.org/clinvar/392211 ^@ NM_004321.7(KIF1A):c.204G>A (p.Ala68=) http://identifiers.org/clinvar/390911 ^@ NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=) http://identifiers.org/clinvar/387117 ^@ NM_000179.2(MSH6):c.-28G>C http://identifiers.org/clinvar/392563 ^@ NM_001256850.1(TTN):c.30727+20A>G http://identifiers.org/clinvar/391226 ^@ NM_004321.7(KIF1A):c.3378G>A (p.Pro1126=) http://identifiers.org/clinvar/381722 ^@ NM_001035256.2(POMC):c.616G>T (p.Glu206Ter) http://identifiers.org/clinvar/391694 ^@ NM_004321.7(KIF1A):c.2857G>A (p.Val953Met) http://identifiers.org/clinvar/381231 ^@ NM_000179.2(MSH6):c.-12C>G http://identifiers.org/clinvar/384738 ^@ NM_004321.7(KIF1A):c.2496C>T (p.Asn832=) http://identifiers.org/clinvar/387142 ^@ NM_000182.4(HADHA):c.1621-19A>G http://identifiers.org/clinvar/384920 ^@ NM_000179.2(MSH6):c.69C>G (p.Ala23=) http://identifiers.org/clinvar/387121 ^@ NM_000179.2(MSH6):c.628-12C>T http://identifiers.org/clinvar/386786 ^@ NM_000179.2(MSH6):c.846G>C (p.Val282=) http://identifiers.org/clinvar/393282 ^@ NM_000182.4(HADHA):c.1453G>T (p.Ala485Ser) http://identifiers.org/clinvar/389724 ^@ NM_000182.4(HADHA):c.800-15C>T http://identifiers.org/clinvar/379861 ^@ NM_004321.7(KIF1A):c.2466G>T (p.Val822=) http://identifiers.org/clinvar/388760 ^@ NM_000182.4(HADHA):c.-43A>G http://identifiers.org/clinvar/378043 ^@ NM_004321.7(KIF1A):c.1410C>T (p.Ala470=) http://identifiers.org/clinvar/382567 ^@ NM_004321.7(KIF1A):c.1314+7G>T http://identifiers.org/clinvar/392549 ^@ NM_001256850.1(TTN):c.30643+7G>C http://identifiers.org/clinvar/385547 ^@ NM_000179.2(MSH6):c.969C>G (p.Thr323=) http://identifiers.org/clinvar/383367 ^@ NM_000030.2(AGXT):c.28C>G (p.Pro10Ala) http://identifiers.org/clinvar/379766 ^@ NM_015662.2(IFT172):c.4659+16T>C http://identifiers.org/clinvar/378967 ^@ NM_000179.2(MSH6):c.1284G>A (p.Lys428=) http://identifiers.org/clinvar/380460 ^@ NM_015662.2(IFT172):c.4428+5C>G http://identifiers.org/clinvar/379411 ^@ NM_015662.2(IFT172):c.3915T>A (p.Ser1305=) http://identifiers.org/clinvar/392082 ^@ NM_175629.2(DNMT3A):c.1743G>T (p.Trp581Cys) http://identifiers.org/clinvar/385854 ^@ NM_015662.2(IFT172):c.3530+7T>C http://identifiers.org/clinvar/380336 ^@ NM_000179.2(MSH6):c.1308C>T (p.Tyr436=) http://identifiers.org/clinvar/379641 ^@ NM_015662.2(IFT172):c.2723G>A (p.Arg908Gln) http://identifiers.org/clinvar/392892 ^@ NM_004304.4(ALK):c.3375C>T (p.Gly1125=) http://identifiers.org/clinvar/383910 ^@ NM_014946.3(SPAST):c.1173+17A>C http://identifiers.org/clinvar/392111 ^@ NM_014946.3(SPAST):c.1493+6G>A http://identifiers.org/clinvar/381885 ^@ NM_014946.3(SPAST):c.1536+17G>T http://identifiers.org/clinvar/381229 ^@ NM_000179.2(MSH6):c.1806A>C (p.Ser602=) http://identifiers.org/clinvar/385887 ^@ NM_000179.2(MSH6):c.1836A>C (p.Ser612=) http://identifiers.org/clinvar/389014 ^@ NM_000182.4(HADHA):c.1690-18G>A http://identifiers.org/clinvar/381289 ^@ NM_144736.4(NDUFAF7):c.622+8C>G http://identifiers.org/clinvar/388358 ^@ NM_000179.2(MSH6):c.1929T>C (p.Phe643=) http://identifiers.org/clinvar/386149 ^@ NM_005633.3(SOS1):c.*12C>T http://identifiers.org/clinvar/382553 ^@ NM_000179.2(MSH6):c.2754T>C (p.His918=) http://identifiers.org/clinvar/390870 ^@ NM_001256850.1(TTN):c.28469+10A>G http://identifiers.org/clinvar/388899 ^@ NM_000179.2(MSH6):c.2787C>G (p.Pro929=) http://identifiers.org/clinvar/392689 ^@ NM_001256850.1(TTN):c.27224-10C>T http://identifiers.org/clinvar/388719 ^@ NM_001256850.1(TTN):c.26676G>A (p.Lys8892=) http://identifiers.org/clinvar/381957 ^@ NM_005633.3(SOS1):c.2739G>A (p.Lys913=) http://identifiers.org/clinvar/383913 ^@ NM_000182.4(HADHA):c.918+19T>C http://identifiers.org/clinvar/378968 ^@ NM_000179.2(MSH6):c.2880C>T (p.Asn960=) http://identifiers.org/clinvar/388882 ^@ NM_000182.4(HADHA):c.870G>A (p.Val290=) http://identifiers.org/clinvar/388555 ^@ NM_000179.2(MSH6):c.3015A>G (p.Arg1005=) http://identifiers.org/clinvar/377948 ^@ NM_000182.4(HADHA):c.109+20A>G http://identifiers.org/clinvar/383205 ^@ NM_005633.3(SOS1):c.2510+19C>G http://identifiers.org/clinvar/383322 ^@ NM_000179.2(MSH6):c.3153A>G (p.Val1051=) http://identifiers.org/clinvar/392263 ^@ NM_001256850.1(TTN):c.25197A>G (p.Lys8399=) http://identifiers.org/clinvar/390705 ^@ NM_000179.2(MSH6):c.3172+11G>A http://identifiers.org/clinvar/390368 ^@ NM_001256850.1(TTN):c.25113G>A (p.Lys8371=) http://identifiers.org/clinvar/387441 ^@ NM_000179.2(MSH6):c.3438+12T>C http://identifiers.org/clinvar/378808 ^@ NM_001256850.1(TTN):c.24858G>A (p.Ser8286=) http://identifiers.org/clinvar/386921 ^@ NM_000182.4(HADHA):c.12C>T (p.Cys4=) http://identifiers.org/clinvar/391279 ^@ NM_001256850.1(TTN):c.23834-3T>C http://identifiers.org/clinvar/387959 ^@ NM_005633.3(SOS1):c.822T>C (p.Ser274=) http://identifiers.org/clinvar/384221 ^@ NM_000182.4(HADHA):c.-20G>T http://identifiers.org/clinvar/386914 ^@ NM_000183.2(HADHB):c.279C>G (p.Val93=) http://identifiers.org/clinvar/390966 ^@ NM_001256850.1(TTN):c.23637C>A (p.Gly7879=) http://identifiers.org/clinvar/382972 ^@ NM_133259.3(LRPPRC):c.3837A>G (p.Ala1279=) http://identifiers.org/clinvar/384228 ^@ NM_133259.3(LRPPRC):c.3365-16T>C http://identifiers.org/clinvar/389840 ^@ NM_001256850.1(TTN):c.23502C>T (p.Leu7834=) http://identifiers.org/clinvar/388883 ^@ NM_133259.3(LRPPRC):c.2504+17T>C http://identifiers.org/clinvar/388884 ^@ NM_002437.4(MPV17):c.*11C>G http://identifiers.org/clinvar/391524 ^@ NM_001256850.1(TTN):c.22431T>A (p.Pro7477=) http://identifiers.org/clinvar/387273 ^@ NM_000179.2(MSH6):c.3646+7C>T http://identifiers.org/clinvar/387451 ^@ NM_000179.2(MSH6):c.3647-17A>G http://identifiers.org/clinvar/380970 ^@ NM_133259.3(LRPPRC):c.2210+10C>T http://identifiers.org/clinvar/392498 ^@ NM_002437.4(MPV17):c.461+17C>A http://identifiers.org/clinvar/378170 ^@ NM_000179.2(MSH6):c.3747C>T (p.Tyr1249=) http://identifiers.org/clinvar/379189 ^@ NM_000179.2(MSH6):c.3951T>C (p.His1317=) http://identifiers.org/clinvar/384892 ^@ NM_002437.4(MPV17):c.294G>A (p.Pro98=) http://identifiers.org/clinvar/389520 ^@ NM_000179.2(MSH6):c.4050C>T (p.Val1350=) http://identifiers.org/clinvar/378969 ^@ NM_000179.2(MSH6):c.*10A>G http://identifiers.org/clinvar/381908 ^@ NM_001256850.1(TTN):c.22125C>T (p.Cys7375=) http://identifiers.org/clinvar/391963 ^@ NM_000145.3(FSHR):c.1672A>C (p.Asn558His) http://identifiers.org/clinvar/390977 ^@ NM_001135659.2(NRXN1):c.3792C>A (p.Ala1264=) http://identifiers.org/clinvar/381922 ^@ NM_001256850.1(TTN):c.21489A>G (p.Gln7163=) http://identifiers.org/clinvar/381199 ^@ NM_133259.3(LRPPRC):c.1491A>T (p.Glu497Asp) http://identifiers.org/clinvar/390836 ^@ NM_001256850.1(TTN):c.21030G>T (p.Thr7010=) http://identifiers.org/clinvar/381523 ^@ NM_002437.4(MPV17):c.191C>G (p.Pro64Arg) http://identifiers.org/clinvar/388155 ^@ NM_133259.3(LRPPRC):c.66C>T (p.Leu22=) http://identifiers.org/clinvar/378300 ^@ NM_001135659.2(NRXN1):c.3609C>T (p.Ala1203=) http://identifiers.org/clinvar/393288 ^@ NM_016932.4(SIX2):c.760G>A (p.Ala254Thr) http://identifiers.org/clinvar/390454 ^@ NM_001256850.1(TTN):c.18201A>G (p.Pro6067=) http://identifiers.org/clinvar/381353 ^@ NM_001135659.2(NRXN1):c.3485-109863C>T http://identifiers.org/clinvar/390663 ^@ NM_001256850.1(TTN):c.17766T>A (p.Ile5922=) http://identifiers.org/clinvar/379412 ^@ NM_015662.2(IFT172):c.*2T>C http://identifiers.org/clinvar/388317 ^@ NM_015662.2(IFT172):c.4815+9G>A http://identifiers.org/clinvar/391837 ^@ NM_020458.3(TTC7A):c.59G>A (p.Cys20Tyr) http://identifiers.org/clinvar/378296 ^@ NM_001135659.2(NRXN1):c.3365-4G>T http://identifiers.org/clinvar/379765 ^@ NM_015662.2(IFT172):c.4745T>C (p.Ile1582Thr) http://identifiers.org/clinvar/384720 ^@ NM_001743.5(CALM2):c.421+18A>G http://identifiers.org/clinvar/392051 ^@ NM_001135659.2(NRXN1):c.3013G>T (p.Val1005Leu) http://identifiers.org/clinvar/387419 ^@ NM_015662.2(IFT172):c.3357C>T (p.His1119=) http://identifiers.org/clinvar/390826 ^@ NM_001743.5(CALM2):c.285+16G>C http://identifiers.org/clinvar/380464 ^@ NM_015662.2(IFT172):c.2858G>A (p.Arg953His) http://identifiers.org/clinvar/392500 ^@ NM_001135659.2(NRXN1):c.2902C>T (p.His968Tyr) http://identifiers.org/clinvar/379410 ^@ NM_015662.2(IFT172):c.1829+12G>A http://identifiers.org/clinvar/389610 ^@ NM_004304.4(ALK):c.3359+7G>A http://identifiers.org/clinvar/391880 ^@ NM_001135659.2(NRXN1):c.2511T>A (p.Thr837=) http://identifiers.org/clinvar/383520 ^@ NM_014946.3(SPAST):c.327G>C (p.Pro109=) http://identifiers.org/clinvar/381666 ^@ NM_014946.3(SPAST):c.415+1G>T http://identifiers.org/clinvar/387532 ^@ NM_001135659.2(NRXN1):c.2436C>T (p.Asp812=) http://identifiers.org/clinvar/382298 ^@ NM_001135659.2(NRXN1):c.2367G>A (p.Gln789=) http://identifiers.org/clinvar/378291 ^@ NM_001135659.2(NRXN1):c.2316C>T (p.Pro772=) http://identifiers.org/clinvar/392516 ^@ NM_014946.3(SPAST):c.871-1G>C http://identifiers.org/clinvar/5627 ^@ NM_001099274.1(TINF2):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/5628 ^@ NM_000154.1(GALK1):c.94G>A (p.Val32Met) http://identifiers.org/clinvar/5629 ^@ NM_000154.1(GALK1):c.238G>T (p.Glu80Ter) http://identifiers.org/clinvar/5630 ^@ NM_000154.1(GALK1):c.82C>A (p.Pro28Thr) http://identifiers.org/clinvar/5631 ^@ NM_000154.1(GALK1):c.1144C>T (p.Gln382Ter) http://identifiers.org/clinvar/5632 ^@ GALK1, 1-BP DEL, 761G http://identifiers.org/clinvar/5633 ^@ NM_000154.1(GALK1):c.593C>T (p.Ala198Val) http://identifiers.org/clinvar/5634 ^@ NM_000099.3(CST3):c.281T>A (p.Leu94Gln) http://identifiers.org/clinvar/5635 ^@ NM_000099.3(CST3):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/5636 ^@ NM_012203.1(GRHPR):c.103delG (p.Asp35Thrfs) http://identifiers.org/clinvar/5637 ^@ NM_012203.1(GRHPR):c.295C>T (p.Arg99Ter) http://identifiers.org/clinvar/5638 ^@ NM_012415.3(RAD54B):c.1778A>G (p.Asn593Ser) http://identifiers.org/clinvar/5639 ^@ NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) http://identifiers.org/clinvar/5640 ^@ NM_000030.2(AGXT):c.613T>C (p.Ser205Pro) http://identifiers.org/clinvar/5641 ^@ NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) http://identifiers.org/clinvar/5642 ^@ NM_000030.2(AGXT):c.198C>G (p.Tyr66Ter) http://identifiers.org/clinvar/5643 ^@ NM_000030.2(AGXT):c.245G>A (p.Gly82Glu) http://identifiers.org/clinvar/5644 ^@ NM_000030.2(AGXT):c.121G>A (p.Gly41Arg) http://identifiers.org/clinvar/5645 ^@ NM_000030.2(AGXT):c.454T>A (p.Phe152Ile) http://identifiers.org/clinvar/5646 ^@ NM_000030.2(AGXT):c.731T>C (p.Ile244Thr) http://identifiers.org/clinvar/5647 ^@ NM_000030.2(AGXT):c.697C>T (p.Arg233Cys) http://identifiers.org/clinvar/5648 ^@ NM_000030.2(AGXT):c.698G>A (p.Arg233His) http://identifiers.org/clinvar/5649 ^@ NM_000030.2(AGXT):c.738G>A (p.Trp246Ter) http://identifiers.org/clinvar/5650 ^@ NM_000030.2(AGXT):c.466G>A (p.Gly156Arg) http://identifiers.org/clinvar/5651 ^@ PRG4, 5-BP DEL, NT2805 http://identifiers.org/clinvar/5652 ^@ PRG4, 7-BP DEL, NT3240 http://identifiers.org/clinvar/5653 ^@ PRG4, 2-BP DEL, NT3023 http://identifiers.org/clinvar/5654 ^@ PRG4, 5-BP DEL, NT3690 http://identifiers.org/clinvar/5655 ^@ NM_005807.4(PRG4):c.4190_4191delCCinsAG (p.Ser1397Ter) http://identifiers.org/clinvar/5656 ^@ PRG4, IVS6, 41-BP INS http://identifiers.org/clinvar/5657 ^@ NM_014946.3(SPAST):c.1085C>G (p.Ser362Cys) http://identifiers.org/clinvar/5658 ^@ NM_014946.3(SPAST):c.1343G>A (p.Cys448Tyr) http://identifiers.org/clinvar/5659 ^@ NM_014946.3(SPAST):c.1395delT (p.Leu466Terfs) http://identifiers.org/clinvar/5660 ^@ NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) http://identifiers.org/clinvar/5661 ^@ NM_014946.3(SPAST):c.1688-2A>G http://identifiers.org/clinvar/5662 ^@ SPAST, LYS229TER http://identifiers.org/clinvar/5663 ^@ NM_014946.3(SPAST):c.453dupA (p.Gly152Argfs) http://identifiers.org/clinvar/5664 ^@ NM_014946.3(SPAST):c.1322A>G (p.Asp441Gly) http://identifiers.org/clinvar/5665 ^@ NM_014946.3(SPAST):c.1728+1G>C http://identifiers.org/clinvar/5666 ^@ NM_014946.3(SPAST):c.1245+4A>G http://identifiers.org/clinvar/5667 ^@ NM_014946.3(SPAST):c.1413+2dupT http://identifiers.org/clinvar/5668 ^@ NM_014946.3(SPAST):c.1031T>A (p.Ile344Lys) http://identifiers.org/clinvar/5669 ^@ NM_014946.3(SPAST):c.1157A>G (p.Asn386Ser) http://identifiers.org/clinvar/5670 ^@ NM_014946.3(SPAST):c.1409A>T (p.Asp470Val) http://identifiers.org/clinvar/5671 ^@ NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) http://identifiers.org/clinvar/5672 ^@ NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) http://identifiers.org/clinvar/5673 ^@ NM_014946.3(SPAST):c.1684C>G (p.Arg562Gly) http://identifiers.org/clinvar/5674 ^@ NM_014946.3(SPAST):c.-112_415+1779del http://identifiers.org/clinvar/5675 ^@ NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) http://identifiers.org/clinvar/5676 ^@ NM_014946.3(SPAST):c.1335C>A (p.Ser445Arg) http://identifiers.org/clinvar/5677 ^@ NG_008730.1:g.75057_79101dup4045 http://identifiers.org/clinvar/5678 ^@ NM_001169109.1(SCO2):c.157C>T (p.Gln53Ter) http://identifiers.org/clinvar/5679 ^@ NM_001169109.1(SCO2):c.674C>T (p.Ser225Phe) http://identifiers.org/clinvar/5680 ^@ NM_001169109.1(SCO2):c.511C>T (p.Arg171Trp) http://identifiers.org/clinvar/5681 ^@ NM_005138.2(SCO2):c.418G>A (p.Glu140Lys) http://identifiers.org/clinvar/5682 ^@ NM_001169109.1(SCO2):c.268C>T (p.Arg90Ter) http://identifiers.org/clinvar/5683 ^@ SCO2, 10-BP DUP, NT1302 http://identifiers.org/clinvar/5684 ^@ NM_001169109.1(SCO2):c.398G>A (p.Cys133Tyr) http://identifiers.org/clinvar/5685 ^@ NM_001169109.1(SCO2):c.107G>A (p.Trp36Ter) http://identifiers.org/clinvar/5686 ^@ NM_002334.3(LRP4):c.1585G>A (p.Asp529Asn) http://identifiers.org/clinvar/5687 ^@ NM_002334.3(LRP4):c.409G>A (p.Asp137Asn) http://identifiers.org/clinvar/5688 ^@ LRP4, 4959G-C http://identifiers.org/clinvar/5689 ^@ LRP4, IVS6DS, G-A, +1 http://identifiers.org/clinvar/5690 ^@ NM_002334.3(LRP4):c.479G>A (p.Cys160Tyr) http://identifiers.org/clinvar/5691 ^@ NM_002334.3(LRP4):c.1345G>A (p.Asp449Asn) http://identifiers.org/clinvar/5692 ^@ NM_002334.3(LRP4):c.1381A>C (p.Thr461Pro) http://identifiers.org/clinvar/5693 ^@ LRP4, IVS2AS, G-A, -9 http://identifiers.org/clinvar/5694 ^@ NM_012448.3(STAT5B):c.1888G>C (p.Ala630Pro) http://identifiers.org/clinvar/5695 ^@ STAT5B, 1-BP INS, 1191G http://identifiers.org/clinvar/5696 ^@ STAT5B, 1-BP INS, 1102C http://identifiers.org/clinvar/5697 ^@ NM_012448.3(STAT5B):c.454C>T (p.Arg152Ter) http://identifiers.org/clinvar/5698 ^@ STAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTION http://identifiers.org/clinvar/5699 ^@ NM_182643.2(DLC1):c.2875A>G (p.Thr959Ala) http://identifiers.org/clinvar/5700 ^@ NM_005977.3(RNF6):c.305G>A (p.Arg102Lys) http://identifiers.org/clinvar/5701 ^@ NM_005977.3(RNF6):c.724G>A (p.Ala242Thr) http://identifiers.org/clinvar/5702 ^@ NM_005977.3(RNF6):c.731G>A (p.Gly244Asp) http://identifiers.org/clinvar/5703 ^@ NM_012120.2(CD2AP):c.730-1_730delGCinsCT http://identifiers.org/clinvar/5704 ^@ NM_012120.2(CD2AP):c.1834C>T (p.Arg612Ter) http://identifiers.org/clinvar/39410 ^@ NM_004750.4(CRLF1):c.242G>A (p.Arg81His) http://identifiers.org/clinvar/5707 ^@ CRLF1, 1-BP INS, 676A http://identifiers.org/clinvar/5708 ^@ NM_004750.4(CRLF1):c.226T>G (p.Trp76Gly) http://identifiers.org/clinvar/5709 ^@ CRLF1, 527+5G-A http://identifiers.org/clinvar/5710 ^@ CRLF1, 1-BP DUP, 713C http://identifiers.org/clinvar/5711 ^@ NM_004750.4(CRLF1):c.1102A>T (p.Lys368Ter) http://identifiers.org/clinvar/5712 ^@ CRLF1, 2-BP DEL/1-BP INS, NT708 http://identifiers.org/clinvar/5713 ^@ NM_004750.4(CRLF1):c.829C>T (p.Arg277Ter) http://identifiers.org/clinvar/5714 ^@ SLC34A2, 186-BP DEL http://identifiers.org/clinvar/5715 ^@ SLC34A2, 1-BP DEL, 114A http://identifiers.org/clinvar/5716 ^@ NM_006424.2(SLC34A2):c.226C>T (p.Gln76Ter) http://identifiers.org/clinvar/5717 ^@ NM_006424.2(SLC34A2):c.316G>C (p.Gly106Arg) http://identifiers.org/clinvar/5718 ^@ KRIT1, 1283C-T http://identifiers.org/clinvar/5719 ^@ KRIT1, 1-BP DEL, 1342A http://identifiers.org/clinvar/5720 ^@ KRIT1, 1-BP INS, 1271C http://identifiers.org/clinvar/5721 ^@ NM_194456.1(KRIT1):c.1363C>T (p.Gln455Ter) http://identifiers.org/clinvar/5722 ^@ KRIT1, 1-BP DEL, 103G http://identifiers.org/clinvar/5723 ^@ KRIT1, IVS2DS, T-C, +2 http://identifiers.org/clinvar/5724 ^@ KRIT1, 2-BP DEL, 741TC http://identifiers.org/clinvar/5725 ^@ NM_194456.1(KRIT1):c.410A>G (p.Asp137Gly) http://identifiers.org/clinvar/5726 ^@ NM_194456.1(KRIT1):c.601C>G (p.Gln201Glu) http://identifiers.org/clinvar/5727 ^@ KRIT1, 1-BP INS, 1374C http://identifiers.org/clinvar/5728 ^@ NM_194456.1(KRIT1):c.987C>A (p.Cys329Ter) http://identifiers.org/clinvar/5729 ^@ CRB1, ALU INS, NT2320 http://identifiers.org/clinvar/5730 ^@ NM_201253.2(CRB1):c.3122T>C (p.Met1041Thr) http://identifiers.org/clinvar/5731 ^@ NM_201253.2(CRB1):c.2983G>T (p.Glu995Ter) http://identifiers.org/clinvar/5732 ^@ NM_201253.2(CRB1):c.2290C>T (p.Arg764Cys) http://identifiers.org/clinvar/5733 ^@ NM_201253.2(CRB1):c.2234C>T (p.Thr745Met) http://identifiers.org/clinvar/5734 ^@ NM_201253.2(CRB1):c.3299T>G (p.Ile1100Arg) http://identifiers.org/clinvar/5735 ^@ NM_201253.2(CRB1):c.3997G>T (p.Glu1333Ter) http://identifiers.org/clinvar/5736 ^@ NM_201253.2(CRB1):c.2401A>T (p.Lys801Ter) http://identifiers.org/clinvar/5737 ^@ NM_201253.2(CRB1):c.3541T>C (p.Cys1181Arg) http://identifiers.org/clinvar/5738 ^@ NM_201253.2(CRB1):c.484G>A (p.Val162Met) http://identifiers.org/clinvar/5739 ^@ NM_201253.2(CRB1):c.3307G>A (p.Gly1103Arg) http://identifiers.org/clinvar/5740 ^@ NM_201253.2(CRB1):c.4121_4130delCAACTCAGGG (p.Ala1374Glufs) http://identifiers.org/clinvar/5741 ^@ SNAP29, 1-BP DEL, 220G http://identifiers.org/clinvar/5742 ^@ NM_005094.3(SLC27A4):c.504C>A (p.Cys168Ter) http://identifiers.org/clinvar/5743 ^@ SLC27A4, IVS4AS, G-A, -1 http://identifiers.org/clinvar/5744 ^@ NM_005094.3(SLC27A4):c.274G>A (p.Ala92Thr) http://identifiers.org/clinvar/5745 ^@ NM_005094.3(SLC27A4):c.739T>C (p.Ser247Pro) http://identifiers.org/clinvar/5746 ^@ NM_005094.3(SLC27A4):c.899A>G (p.Gln300Arg) http://identifiers.org/clinvar/5747 ^@ SLC27A4, IVS7AS, A-G, -2 http://identifiers.org/clinvar/5748 ^@ NM_005094.3(SLC27A4):c.1748G>A (p.Arg583His) http://identifiers.org/clinvar/5749 ^@ SLC22A4, IVS1, T-C http://identifiers.org/clinvar/5750 ^@ NM_003059.2(SLC22A4):c.1507C>T (p.Leu503Phe) http://identifiers.org/clinvar/5751 ^@ NM_000975.3(RPL11):c.223C>T (p.Arg75Ter) http://identifiers.org/clinvar/5752 ^@ RPL11, 2-BP DEL, 60CT http://identifiers.org/clinvar/5753 ^@ RPL11, 3-BP DEL, 482AGG http://identifiers.org/clinvar/5754 ^@ RPL11, IVS2AS, G-A, -1 http://identifiers.org/clinvar/5755 ^@ NM_032551.4(KISS1R):c.443T>C (p.Leu148Ser) http://identifiers.org/clinvar/5756 ^@ NM_032551.4(KISS1R):c.991C>T (p.Arg331Ter) http://identifiers.org/clinvar/5757 ^@ NM_032551.4(KISS1R):c.1195T>A (p.Ter399Arg) http://identifiers.org/clinvar/5758 ^@ KISS1R, 155-BP DEL http://identifiers.org/clinvar/5759 ^@ NM_032551.4(KISS1R):c.305T>C (p.Leu102Pro) http://identifiers.org/clinvar/5760 ^@ NM_032551.4(KISS1R):c.1157G>C (p.Arg386Pro) http://identifiers.org/clinvar/5761 ^@ NM_004211.4(SLC6A5):c.1131C>A (p.Tyr377Ter) http://identifiers.org/clinvar/5762 ^@ NM_004211.4(SLC6A5):c.1294delGinsTT (p.Val432Phefs) http://identifiers.org/clinvar/5763 ^@ NM_004211.4(SLC6A5):c.1472A>G (p.Tyr491Cys) http://identifiers.org/clinvar/5764 ^@ NM_004211.4(SLC6A5):c.1888C>T (p.Gln630Ter) http://identifiers.org/clinvar/5765 ^@ NM_004211.4(SLC6A5):c.916C>G (p.Leu306Val) http://identifiers.org/clinvar/5766 ^@ NM_004211.4(SLC6A5):c.1526A>G (p.Asn509Ser) http://identifiers.org/clinvar/5767 ^@ NM_004211.4(SLC6A5):c.1274C>T (p.Thr425Met) http://identifiers.org/clinvar/5768 ^@ NM_003919.2(SGCE):c.289C>T (p.Arg97Ter) http://identifiers.org/clinvar/5769 ^@ NM_003919.2(SGCE):c.304C>T (p.Arg102Ter) http://identifiers.org/clinvar/5770 ^@ SGCE, 1-BP DEL, 565A http://identifiers.org/clinvar/5771 ^@ SGCE, 97-BP DEL http://identifiers.org/clinvar/5772 ^@ NM_003919.2(SGCE):c.835_839delACAAA (p.Thr279Alafs) http://identifiers.org/clinvar/5773 ^@ NM_003919.2(SGCE):c.587T>G (p.Leu196Arg) http://identifiers.org/clinvar/5774 ^@ NM_003919.2(SGCE):c.884dupT (p.Leu295Phefs) http://identifiers.org/clinvar/5775 ^@ SGCE, 1-BP DEL, 974C http://identifiers.org/clinvar/5776 ^@ NM_003919.2(SGCE):c.1114C>T (p.Arg372Ter) http://identifiers.org/clinvar/5777 ^@ NM_003919.2(SGCE):c.464_662del199 http://identifiers.org/clinvar/5778 ^@ SGCE, 6,872-BP DEL, EX6DEL http://identifiers.org/clinvar/5779 ^@ NM_003919.2(SGCE):c.619_620delAG (p.Arg207Glyfs) http://identifiers.org/clinvar/5780 ^@ NM_014270.4(SLC7A9):c.508G>A (p.Val170Met) http://identifiers.org/clinvar/5781 ^@ NM_014270.4(SLC7A9):c.313G>A (p.Gly105Arg) http://identifiers.org/clinvar/5782 ^@ NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr) http://identifiers.org/clinvar/5783 ^@ NM_014270.4(SLC7A9):c.583G>A (p.Gly195Arg) http://identifiers.org/clinvar/5784 ^@ NM_014270.4(SLC7A9):c.775G>A (p.Gly259Arg) http://identifiers.org/clinvar/5785 ^@ SLC7A9, 2-BP DEL, 596TG http://identifiers.org/clinvar/5786 ^@ SLC7A9, 1-BP INS, 520T http://identifiers.org/clinvar/5787 ^@ NM_014270.4(SLC7A9):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/5788 ^@ NM_014270.4(SLC7A9):c.131T>C (p.Ile44Thr) http://identifiers.org/clinvar/5789 ^@ NM_014270.4(SLC7A9):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/5790 ^@ SLC7A9, 1-BP INS, 799A http://identifiers.org/clinvar/5791 ^@ NM_014270.4(SLC7A9):c.695A>G (p.Tyr232Cys) http://identifiers.org/clinvar/5792 ^@ SLC7A9, 789+2T-C http://identifiers.org/clinvar/5793 ^@ NM_014270.4(SLC7A9):c.368C>T (p.Thr123Met) http://identifiers.org/clinvar/5794 ^@ SLC7A9, IVS5AS, C-A, -3 http://identifiers.org/clinvar/5795 ^@ TYROBP, EX1-4DEL http://identifiers.org/clinvar/5796 ^@ TYROBP, 1-BP DEL, 141G http://identifiers.org/clinvar/5797 ^@ NM_003332.3(TYROBP):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/5798 ^@ NM_139025.4(ADAMTS13):c.286C>G (p.His96Asp) http://identifiers.org/clinvar/5799 ^@ NM_139025.4(ADAMTS13):c.2851T>G (p.Cys951Gly) http://identifiers.org/clinvar/5800 ^@ NM_139025.4(ADAMTS13):c.304C>T (p.Arg102Cys) http://identifiers.org/clinvar/5801 ^@ NM_139025.4(ADAMTS13):c.587C>T (p.Thr196Ile) http://identifiers.org/clinvar/5802 ^@ NM_139025.4(ADAMTS13):c.1193G>A (p.Arg398His) http://identifiers.org/clinvar/5803 ^@ NM_139025.4(ADAMTS13):c.3070T>G (p.Cys1024Gly) http://identifiers.org/clinvar/5804 ^@ NM_139025.4(ADAMTS13):c.1582A>G (p.Arg528Gly) http://identifiers.org/clinvar/5805 ^@ NM_139025.4(ADAMTS13):c.3770dupT (p.Leu1258Valfs) http://identifiers.org/clinvar/5806 ^@ NM_139025.4(ADAMTS13):c.2376_2401del26 (p.Ala793Profs) http://identifiers.org/clinvar/5807 ^@ NM_139025.4(ADAMTS13):c.4143dupA (p.Glu1382Argfs) http://identifiers.org/clinvar/5808 ^@ NM_139025.4(ADAMTS13):c.3638G>A (p.Cys1213Tyr) http://identifiers.org/clinvar/5809 ^@ NM_139025.4(ADAMTS13):c.2074C>T (p.Arg692Cys) http://identifiers.org/clinvar/5810 ^@ ADAMTS13, IVS13DS, G-A, +5 http://identifiers.org/clinvar/5811 ^@ NM_139025.4(ADAMTS13):c.1345C>T (p.Gln449Ter) http://identifiers.org/clinvar/5812 ^@ NM_139025.4(ADAMTS13):c.803G>C (p.Arg268Pro) http://identifiers.org/clinvar/242806 ^@ NM_139025.4(ADAMTS13):c.1342C>G (p.Gln448Glu) http://identifiers.org/clinvar/5814 ^@ NM_139025.4(ADAMTS13):c.1423C>T (p.Pro475Ser) http://identifiers.org/clinvar/5815 ^@ NM_139025.4(ADAMTS13):c.1783_1784delTT (p.Leu595Glyfs) http://identifiers.org/clinvar/5817 ^@ NM_139025.4(ADAMTS13):c.414+1G>A http://identifiers.org/clinvar/5818 ^@ NM_139025.4(ADAMTS13):c.749C>T (p.Ala250Val) http://identifiers.org/clinvar/5819 ^@ NM_139025.4(ADAMTS13):c.331-1G>A http://identifiers.org/clinvar/5820 ^@ NM_139025.4(ADAMTS13):c.291_319del29 (p.Glu98Profs) http://identifiers.org/clinvar/5821 ^@ NM_139025.4(ADAMTS13):c.2930_2935delGTGCCC (p.Cys977_Arg979delinsTrp) http://identifiers.org/clinvar/5822 ^@ TBX15, 1-BP DEL, 1042A http://identifiers.org/clinvar/5823 ^@ TBX15, 1-BP DEL, 1044A http://identifiers.org/clinvar/5824 ^@ NM_002894.2(RBBP8):c.1009A>G (p.Lys337Glu) http://identifiers.org/clinvar/5825 ^@ KCNQ1OT1, DEL http://identifiers.org/clinvar/5826 ^@ NM_005682.6(ADGRG1):c.1167+3G>C http://identifiers.org/clinvar/5827 ^@ NM_005682.6(ADGRG1):c.621-1G>C http://identifiers.org/clinvar/5828 ^@ NM_005682.6(ADGRG1):c.739_745delCAGGACC (p.Gln247Cysfs) http://identifiers.org/clinvar/5829 ^@ NM_005682.6(ADGRG1):c.112C>T (p.Arg38Trp) http://identifiers.org/clinvar/5830 ^@ NM_005682.6(ADGRG1):c.1036T>A (p.Cys346Ser) http://identifiers.org/clinvar/5831 ^@ NM_005682.6(ADGRG1):c.1693C>T (p.Arg565Trp) http://identifiers.org/clinvar/5832 ^@ NM_005682.6(ADGRG1):c.272G>C (p.Cys91Ser) http://identifiers.org/clinvar/5833 ^@ NM_005682.6(ADGRG1):c.263A>G (p.Tyr88Cys) http://identifiers.org/clinvar/5834 ^@ NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) http://identifiers.org/clinvar/5835 ^@ NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) http://identifiers.org/clinvar/5836 ^@ NM_006790.2(MYOT):c.179C>G (p.Ser60Cys) http://identifiers.org/clinvar/5837 ^@ NM_006790.2(MYOT):c.179C>T (p.Ser60Phe) http://identifiers.org/clinvar/5838 ^@ NM_006790.2(MYOT):c.284G>T (p.Ser95Ile) http://identifiers.org/clinvar/5839 ^@ NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) http://identifiers.org/clinvar/5840 ^@ NM_000843.3(GRM6):c.1861C>T (p.Arg621Ter) http://identifiers.org/clinvar/5841 ^@ NM_000843.3(GRM6):c.2341G>A (p.Glu781Lys) http://identifiers.org/clinvar/5842 ^@ NM_000843.3(GRM6):c.2122C>T (p.Gln708Ter) http://identifiers.org/clinvar/5843 ^@ NM_000843.3(GRM6):c.448G>A (p.Gly150Ser) http://identifiers.org/clinvar/5844 ^@ NM_000843.3(GRM6):c.137C>T (p.Pro46Leu) http://identifiers.org/clinvar/5845 ^@ GRM6, 1-BP INS, 720G http://identifiers.org/clinvar/5846 ^@ NM_000843.3(GRM6):c.1565G>A (p.Cys522Tyr) http://identifiers.org/clinvar/5847 ^@ NM_000843.3(GRM6):c.1214T>C (p.Ile405Thr) http://identifiers.org/clinvar/5848 ^@ EDAR, 18-BP DEL, IVS2 http://identifiers.org/clinvar/5849 ^@ NM_022336.3(EDAR):c.266G>A (p.Arg89His) http://identifiers.org/clinvar/5850 ^@ EDAR, DEL http://identifiers.org/clinvar/5851 ^@ NM_022336.3(EDAR):c.259T>C (p.Cys87Arg) http://identifiers.org/clinvar/5852 ^@ NM_022336.3(EDAR):c.1072C>T (p.Arg358Ter) http://identifiers.org/clinvar/5853 ^@ NM_022336.3(EDAR):c.1259G>A (p.Arg420Gln) http://identifiers.org/clinvar/5854 ^@ NM_022336.3(EDAR):c.51+1G>A http://identifiers.org/clinvar/5855 ^@ NM_022336.3(EDAR):c.1124G>A (p.Arg375His) http://identifiers.org/clinvar/5856 ^@ NM_022336.3(EDAR):c.329A>C (p.Asp110Ala) http://identifiers.org/clinvar/5857 ^@ NM_022336.3(EDAR):c.1060G>T (p.Glu354Ter) http://identifiers.org/clinvar/5858 ^@ NM_022336.3(EDAR):c.1109T>C (p.Val370Ala) http://identifiers.org/clinvar/5859 ^@ NM_022336.3(EDAR):c.719_722delAAGA (p.Lys240Argfs) http://identifiers.org/clinvar/5860 ^@ NM_022336.3(EDAR):c.803+1G>A http://identifiers.org/clinvar/5861 ^@ GSBS, -1323T-C http://identifiers.org/clinvar/5862 ^@ NM_003835.3(RGS9):c.895T>C (p.Trp299Arg) http://identifiers.org/clinvar/5863 ^@ NM_006640.4(SEPT9):c.262C>T (p.Arg88Trp) http://identifiers.org/clinvar/5864 ^@ NM_006640.4(SEPT9):c.278C>T (p.Ser93Phe) http://identifiers.org/clinvar/5865 ^@ NM_006640.4(SEPT9):c.-134G>C http://identifiers.org/clinvar/5866 ^@ SEPT9, 38-KB DUP http://identifiers.org/clinvar/5867 ^@ NM_004870.3(MPDU1):c.218G>A (p.Gly73Glu) http://identifiers.org/clinvar/5868 ^@ NM_004870.3(MPDU1):c.356T>C (p.Leu119Pro) http://identifiers.org/clinvar/5869 ^@ NM_004870.3(MPDU1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/5870 ^@ MPDU1, 1-BP DEL, 511C http://identifiers.org/clinvar/5871 ^@ NM_004870.3(MPDU1):c.221T>C (p.Leu74Ser) http://identifiers.org/clinvar/5872 ^@ NM_005732.3(RAD50):c.3277C>T (p.Arg1093Ter) http://identifiers.org/clinvar/5873 ^@ NM_005732.3(RAD50):c.3939A>T (p.Ter1313Tyr) http://identifiers.org/clinvar/5874 ^@ NM_004836.6(EIF2AK3):c.1035dupT (p.Lys346Terfs) http://identifiers.org/clinvar/5875 ^@ NM_004836.6(EIF2AK3):c.1763G>A (p.Arg588Gln) http://identifiers.org/clinvar/5876 ^@ NM_004836.6(EIF2AK3):c.2985+1G>A http://identifiers.org/clinvar/5877 ^@ EIF2AK3, 4-BP DEL, 1563GAAA http://identifiers.org/clinvar/5878 ^@ NM_004836.6(EIF2AK3):c.994G>T (p.Glu332Ter) http://identifiers.org/clinvar/5879 ^@ NM_004655.3(AXIN2):c.2116G>T (p.Glu706Ter) http://identifiers.org/clinvar/5880 ^@ NM_004655.3(AXIN2):c.1994delG (p.Gly665Alafs) http://identifiers.org/clinvar/5881 ^@ NM_004655.3(AXIN2):c.1966C>T (p.Arg656Ter) http://identifiers.org/clinvar/5882 ^@ NM_005148.3(UNC119):c.169A>T (p.Lys57Ter) http://identifiers.org/clinvar/5883 ^@ NM_005751.4(AKAP9):c.4709C>T (p.Ser1570Leu) http://identifiers.org/clinvar/5884 ^@ POLH, 13-BP DEL, NT343 http://identifiers.org/clinvar/5885 ^@ POLH, 4-BP DEL, NT289 http://identifiers.org/clinvar/5886 ^@ POLH, 2-BP DEL, NT770 http://identifiers.org/clinvar/5887 ^@ NM_006502.2(POLH):c.916G>T (p.Glu306Ter) http://identifiers.org/clinvar/5888 ^@ POLH, DEL AND TRP297TER http://identifiers.org/clinvar/5889 ^@ NM_006502.2(POLH):c.376C>T (p.Gln126Ter) http://identifiers.org/clinvar/5890 ^@ NM_006502.2(POLH):c.1117C>T (p.Gln373Ter) http://identifiers.org/clinvar/5891 ^@ POLH, 104-BP DEL, NT661 http://identifiers.org/clinvar/5892 ^@ POLH, 1-BP DEL, 207G http://identifiers.org/clinvar/5893 ^@ POLH, 3-BP DEL, NT222 http://identifiers.org/clinvar/5894 ^@ NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) http://identifiers.org/clinvar/5895 ^@ NM_006502.2(POLH):c.1766A>C (p.Lys589Thr) http://identifiers.org/clinvar/5896 ^@ NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) http://identifiers.org/clinvar/5897 ^@ NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) http://identifiers.org/clinvar/5898 ^@ NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) http://identifiers.org/clinvar/5899 ^@ NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) http://identifiers.org/clinvar/5900 ^@ NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) http://identifiers.org/clinvar/5901 ^@ NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) http://identifiers.org/clinvar/5902 ^@ NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) http://identifiers.org/clinvar/5903 ^@ NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) http://identifiers.org/clinvar/5904 ^@ NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) http://identifiers.org/clinvar/5905 ^@ NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) http://identifiers.org/clinvar/5906 ^@ NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) http://identifiers.org/clinvar/5907 ^@ NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg) http://identifiers.org/clinvar/5908 ^@ NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) http://identifiers.org/clinvar/5909 ^@ NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) http://identifiers.org/clinvar/5910 ^@ NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) http://identifiers.org/clinvar/5911 ^@ NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) http://identifiers.org/clinvar/5912 ^@ NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) http://identifiers.org/clinvar/5913 ^@ NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) http://identifiers.org/clinvar/5914 ^@ NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) http://identifiers.org/clinvar/5915 ^@ NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu) http://identifiers.org/clinvar/5916 ^@ NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) http://identifiers.org/clinvar/5917 ^@ NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) http://identifiers.org/clinvar/5918 ^@ NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) http://identifiers.org/clinvar/5919 ^@ NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) http://identifiers.org/clinvar/5920 ^@ NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) http://identifiers.org/clinvar/5921 ^@ NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) http://identifiers.org/clinvar/5922 ^@ NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys) http://identifiers.org/clinvar/5923 ^@ NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) http://identifiers.org/clinvar/5924 ^@ NM_000334.4(SCN4A):c.421A>G (p.Ile141Val) http://identifiers.org/clinvar/5925 ^@ NM_006580.3(CLDN16):c.445C>T (p.Arg149Ter) http://identifiers.org/clinvar/5926 ^@ NM_006580.3(CLDN16):c.715G>A (p.Gly239Arg) http://identifiers.org/clinvar/5927 ^@ NM_006580.3(CLDN16):c.571G>A (p.Gly191Arg) http://identifiers.org/clinvar/5928 ^@ NM_006580.3(CLDN16):c.593G>A (p.Gly198Asp) http://identifiers.org/clinvar/5929 ^@ NM_006580.3(CLDN16):c.212T>G (p.Met71Arg) http://identifiers.org/clinvar/5930 ^@ NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro) http://identifiers.org/clinvar/5931 ^@ NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) http://identifiers.org/clinvar/5932 ^@ NM_006580.3(CLDN16):c.698G>A (p.Gly233Asp) http://identifiers.org/clinvar/5933 ^@ NM_006580.3(CLDN16):c.704C>T (p.Ser235Phe) http://identifiers.org/clinvar/5934 ^@ NM_006580.3(CLDN16):c.453G>T (p.Leu151Phe) http://identifiers.org/clinvar/5935 ^@ NM_006580.3(CLDN16):c.452T>G (p.Leu151Trp) http://identifiers.org/clinvar/5936 ^@ NM_006580.3(CLDN16):c.434T>C (p.Leu145Pro) http://identifiers.org/clinvar/5937 ^@ NM_006580.3(CLDN16):c.350G>A (p.Trp117Ter) http://identifiers.org/clinvar/5938 ^@ CLDN16, LEU151PRO http://identifiers.org/clinvar/5939 ^@ NM_006580.3(CLDN16):c.908C>G (p.Thr303Arg) http://identifiers.org/clinvar/5940 ^@ NM_006580.3(CLDN16):c.831T>G (p.Tyr277Ter) http://identifiers.org/clinvar/5941 ^@ NM_004137.3(KCNMB1):c.193G>A (p.Glu65Lys) http://identifiers.org/clinvar/5942 ^@ NM_003907.2(EIF2B5):c.271A>G (p.Thr91Ala) http://identifiers.org/clinvar/5943 ^@ NM_003907.2(EIF2B5):c.1882T>C (p.Trp628Arg) http://identifiers.org/clinvar/5944 ^@ NM_003907.2(EIF2B5):c.1157G>T (p.Gly386Val) http://identifiers.org/clinvar/5945 ^@ NM_003907.2(EIF2B5):c.338G>A (p.Arg113His) http://identifiers.org/clinvar/5946 ^@ NM_003907.2(EIF2B5):c.584G>A (p.Arg195His) http://identifiers.org/clinvar/5947 ^@ NM_003907.2(EIF2B5):c.925G>C (p.Val309Leu) http://identifiers.org/clinvar/5948 ^@ NM_003907.2(EIF2B5):c.583C>T (p.Arg195Cys) http://identifiers.org/clinvar/5949 ^@ NM_003907.2(EIF2B5):c.545C>T (p.Thr182Met) http://identifiers.org/clinvar/5950 ^@ NM_003907.2(EIF2B5):c.944G>A (p.Arg315His) http://identifiers.org/clinvar/5951 ^@ NM_003907.2(EIF2B5):c.166T>G (p.Phe56Val) http://identifiers.org/clinvar/5952 ^@ NM_003907.2(EIF2B5):c.167T>G (p.Phe56Cys) http://identifiers.org/clinvar/5953 ^@ GYG1, 1-BP DEL, 487G http://identifiers.org/clinvar/5954 ^@ NM_004130.3(GYG1):c.248C>T (p.Thr83Met) http://identifiers.org/clinvar/5955 ^@ NM_006996.2(SLC19A2):c.484C>T (p.Arg162Ter) http://identifiers.org/clinvar/5956 ^@ SLC19A2, 1-BP DEL, 724C http://identifiers.org/clinvar/5957 ^@ NM_006996.2(SLC19A2):c.515G>A (p.Gly172Asp) http://identifiers.org/clinvar/5958 ^@ NM_006996.2(SLC19A2):c.750G>A (p.Trp250Ter) http://identifiers.org/clinvar/5959 ^@ SLC19A2, 1-BP DEL, 885T http://identifiers.org/clinvar/5960 ^@ SLC19A2, 2-BP DEL, 1147GT http://identifiers.org/clinvar/5961 ^@ SLC19A2, 1-BP INS, 242A http://identifiers.org/clinvar/5962 ^@ SLC19A2, 2-BP DEL, 429TT http://identifiers.org/clinvar/5963 ^@ NM_006996.2(SLC19A2):c.1074G>A (p.Trp358Ter) http://identifiers.org/clinvar/5964 ^@ NM_006996.2(SLC19A2):c.152C>T (p.Pro51Leu) http://identifiers.org/clinvar/5965 ^@ NM_006269.1(RP1):c.2029C>T (p.Arg677Ter) http://identifiers.org/clinvar/5966 ^@ NM_006269.1(RP1):c.2285_2289delTAAAT (p.Leu762Tyrfs) http://identifiers.org/clinvar/5967 ^@ NM_006269.1(RP1):c.2287_2290delAATA (p.Asn763Leufs) http://identifiers.org/clinvar/5968 ^@ NM_006269.1(RP1):c.2035C>T (p.Gln679Ter) http://identifiers.org/clinvar/5969 ^@ NM_006269.1(RP1):c.2953A>T (p.Asn985Tyr) http://identifiers.org/clinvar/5970 ^@ NM_006269.1(RP1):c.1118C>T (p.Thr373Ile) http://identifiers.org/clinvar/5971 ^@ NM_006269.1(RP1):c.1458_1461dupTGAA (p.Glu488Terfs) http://identifiers.org/clinvar/5972 ^@ NM_020806.4(GPHN):c.65-?_201+?del http://identifiers.org/clinvar/5973 ^@ NM_020806.4(GPHN):c.28A>T (p.Asn10Tyr) http://identifiers.org/clinvar/5974 ^@ NM_004132.4(HABP2):c.1601G>A (p.Gly534Glu) http://identifiers.org/clinvar/5975 ^@ SUCLA2, 43-BP DEL AND 5-BP INS http://identifiers.org/clinvar/5976 ^@ NM_003850.2(SUCLA2):c.534+1G>A http://identifiers.org/clinvar/5977 ^@ NM_003850.2(SUCLA2):c.352G>A (p.Gly118Arg) http://identifiers.org/clinvar/5978 ^@ NM_003850.2(SUCLA2):c.850C>T (p.Arg284Cys) http://identifiers.org/clinvar/5979 ^@ NM_021999.4(ITM2B):c.799T>A (p.Ter267Arg) http://identifiers.org/clinvar/5980 ^@ NM_021999.4(ITM2B):c.786_795dupTTTAATTTGT (p.Ser266Phefs) http://identifiers.org/clinvar/5981 ^@ NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) http://identifiers.org/clinvar/5982 ^@ NM_183235.2(RAB27A):c.217T>G (p.Trp73Gly) http://identifiers.org/clinvar/5983 ^@ RAB27A, INV3DS, A-G, +3 http://identifiers.org/clinvar/5984 ^@ RAB27A, 550C-T http://identifiers.org/clinvar/5985 ^@ RAB27A, 67.5-KB DEL http://identifiers.org/clinvar/5986 ^@ NM_183235.2(RAB27A):c.389T>C (p.Leu130Pro) http://identifiers.org/clinvar/5987 ^@ NM_183235.2(RAB27A):c.454G>C (p.Ala152Pro) http://identifiers.org/clinvar/5988 ^@ RAB27A, 2-BP DEL, 51CT http://identifiers.org/clinvar/5989 ^@ RAB27A, IVS5, G-C, +1 http://identifiers.org/clinvar/5990 ^@ NM_183235.2(RAB27A):c.352C>T (p.Gln118Ter) http://identifiers.org/clinvar/5991 ^@ NM_183235.2(RAB27A):c.259G>C (p.Ala87Pro) http://identifiers.org/clinvar/5992 ^@ NM_014252.3(SLC25A15):c.562_564delTTC (p.Phe188del) http://identifiers.org/clinvar/5993 ^@ NM_014252.3(SLC25A15):c.538G>A (p.Glu180Lys) http://identifiers.org/clinvar/5994 ^@ NM_014252.3(SLC25A15):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/5995 ^@ NM_014252.3(SLC25A15):c.79G>A (p.Gly27Arg) http://identifiers.org/clinvar/5996 ^@ NM_014252.3(SLC25A15):c.824G>A (p.Arg275Gln) http://identifiers.org/clinvar/5997 ^@ NM_014252.3(SLC25A15):c.110T>G (p.Met37Arg) http://identifiers.org/clinvar/5998 ^@ NM_014252.3(SLC25A15):c.212T>A (p.Leu71Gln) http://identifiers.org/clinvar/5999 ^@ NM_014252.3(SLC25A15):c.815C>T (p.Thr272Ile) http://identifiers.org/clinvar/6000 ^@ NM_014252.3(SLC25A15):c.95C>G (p.Thr32Arg) http://identifiers.org/clinvar/6002 ^@ NM_014251.2(SLC25A13):c.1177+1G>A http://identifiers.org/clinvar/6003 ^@ NM_014251.2(SLC25A13):c.1638_1660dup23 (p.Ala554Glyfs) http://identifiers.org/clinvar/6004 ^@ NM_014251.2(SLC25A13):c.674C>A (p.Ser225Ter) http://identifiers.org/clinvar/6005 ^@ NM_014251.2(SLC25A13):c.1311+1G>A http://identifiers.org/clinvar/6006 ^@ NM_014251.2(SLC25A13):c.1799dupA (p.Tyr600Terfs) http://identifiers.org/clinvar/6007 ^@ NM_014251.2(SLC25A13):c.1763G>A (p.Arg588Gln) http://identifiers.org/clinvar/6008 ^@ NP_003915.2:p.Ala260(5_9) http://identifiers.org/clinvar/6009 ^@ NM_003924.3(PHOX2B):c.618dupC (p.Ser207Glnfs) http://identifiers.org/clinvar/6010 ^@ PHOX2B, 37-BP DEL, NT722 http://identifiers.org/clinvar/6011 ^@ NM_003924.3(PHOX2B):c.299G>T (p.Arg100Leu) http://identifiers.org/clinvar/6012 ^@ NM_003924.3(PHOX2B):c.421C>G (p.Arg141Gly) http://identifiers.org/clinvar/6013 ^@ PHOX2B, 1-BP DEL, 676G http://identifiers.org/clinvar/6014 ^@ NM_003924.3(PHOX2B):c.590G>A (p.Gly197Asp) http://identifiers.org/clinvar/6015 ^@ NM_012062.4(DNM1L):c.1184C>A (p.Ala395Asp) http://identifiers.org/clinvar/6016 ^@ NDUFS6, IVS2DS, T-A, +2 http://identifiers.org/clinvar/6017 ^@ NG_013354.1:g.16053_20227del4175 http://identifiers.org/clinvar/6018 ^@ NM_004553.4(NDUFS6):c.344G>A (p.Cys115Tyr) http://identifiers.org/clinvar/6019 ^@ NM_004551.2(NDUFS3):c.434C>T (p.Thr145Ile) http://identifiers.org/clinvar/6020 ^@ NM_004551.2(NDUFS3):c.595C>T (p.Arg199Trp) http://identifiers.org/clinvar/6021 ^@ NM_005476.5(GNE):c.796C>T (p.Arg266Trp) http://identifiers.org/clinvar/6022 ^@ NM_005476.5(GNE):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/6023 ^@ NM_005476.5(GNE):c.788G>T (p.Arg263Leu) http://identifiers.org/clinvar/6025 ^@ NM_001128227.2(GNE):c.2228T>C (p.Met743Thr) http://identifiers.org/clinvar/6026 ^@ NM_001128227.2(GNE):c.1820G>A (p.Gly607Glu) http://identifiers.org/clinvar/6027 ^@ NM_001190383.1(GNE):c.1669G>A (p.Ala557Thr) http://identifiers.org/clinvar/6028 ^@ NM_005476.5(GNE):c.2086G>A (p.Val696Met) http://identifiers.org/clinvar/6029 ^@ NM_001128227.2(GNE):c.1002T>A (p.Cys334Ter) http://identifiers.org/clinvar/6030 ^@ NM_001128227.2(GNE):c.830G>A (p.Arg277Gln) http://identifiers.org/clinvar/6031 ^@ NM_001128227.2(GNE):c.766G>A (p.Asp256Asn) http://identifiers.org/clinvar/6032 ^@ NM_001128227.2(GNE):c.1472C>T (p.Ala491Val) http://identifiers.org/clinvar/6033 ^@ NM_005476.5(GNE):c.1714G>C (p.Val572Leu) http://identifiers.org/clinvar/6034 ^@ NM_001128227.2(GNE):c.1000_1001delTGinsGT (p.Cys334Val) http://identifiers.org/clinvar/6035 ^@ NM_001128227.2(GNE):c.1985C>T (p.Ala662Val) http://identifiers.org/clinvar/6036 ^@ NM_001128227.2(GNE):c.604A>G (p.Met202Val) http://identifiers.org/clinvar/6037 ^@ NM_003502.3(AXIN1):c.1085_1116del32 (p.Val362Alafs) http://identifiers.org/clinvar/6038 ^@ AXIN1, PROMOTER HYPERMETHYLATION http://identifiers.org/clinvar/6039 ^@ NM_201631.3(TGM5):c.337G>T (p.Gly113Cys) http://identifiers.org/clinvar/6040 ^@ NM_004273.4(CHST3):c.911G>A (p.Arg304Gln) http://identifiers.org/clinvar/6041 ^@ NM_004273.4(CHST3):c.776T>C (p.Leu259Pro) http://identifiers.org/clinvar/6042 ^@ NM_004273.4(CHST3):c.1114G>A (p.Glu372Lys) http://identifiers.org/clinvar/6043 ^@ NM_004273.4(CHST3):c.664C>T (p.Arg222Trp) http://identifiers.org/clinvar/6044 ^@ NM_004273.4(CHST3):c.920T>C (p.Leu307Pro) http://identifiers.org/clinvar/6045 ^@ CHST3, 1-BP DEL, 1086G http://identifiers.org/clinvar/6046 ^@ NM_004273.4(CHST3):c.603C>A (p.Tyr201Ter) http://identifiers.org/clinvar/6047 ^@ NM_004273.4(CHST3):c.857T>C (p.Leu286Pro) http://identifiers.org/clinvar/6048 ^@ NM_004273.4(CHST3):c.422C>T (p.Thr141Met) http://identifiers.org/clinvar/6049 ^@ NM_004273.4(CHST3):c.475T>A (p.Phe159Ile) http://identifiers.org/clinvar/6050 ^@ NM_004273.4(CHST3):c.481C>T (p.Leu161Phe) http://identifiers.org/clinvar/6051 ^@ NM_004273.4(CHST3):c.988C>T (p.Gln330Ter) http://identifiers.org/clinvar/6052 ^@ NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) http://identifiers.org/clinvar/6053 ^@ NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) http://identifiers.org/clinvar/6054 ^@ NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) http://identifiers.org/clinvar/6055 ^@ NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) http://identifiers.org/clinvar/6056 ^@ NM_172201.1(KCNE2):c.178T>C (p.Phe60Leu) http://identifiers.org/clinvar/6057 ^@ NM_004862.3(LITAF):c.334G>A (p.Gly112Ser) http://identifiers.org/clinvar/6058 ^@ NM_004862.3(LITAF):c.344C>A (p.Thr115Asn) http://identifiers.org/clinvar/6059 ^@ NM_004862.3(LITAF):c.346T>G (p.Trp116Gly) http://identifiers.org/clinvar/6060 ^@ NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) http://identifiers.org/clinvar/6061 ^@ NM_001136472.1(LITAF):c.430G>A (p.Val144Met) http://identifiers.org/clinvar/6062 ^@ NM_004260.3(RECQL4):c.1650_1656delGGCCTGC (p.Ala551Tyrfs) http://identifiers.org/clinvar/6063 ^@ NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) http://identifiers.org/clinvar/6064 ^@ NM_004260.3(RECQL4):c.2492_2493delAT (p.His831Argfs) http://identifiers.org/clinvar/6065 ^@ NM_004260.3(RECQL4):c.2059-1G>T http://identifiers.org/clinvar/6066 ^@ NM_004260.3(RECQL4):c.1573delT (p.Cys525Alafs) http://identifiers.org/clinvar/6067 ^@ NM_004260.3(RECQL4):c.1391-1G>A http://identifiers.org/clinvar/6069 ^@ NM_004260.3(RECQL4):c.2059-1G>C http://identifiers.org/clinvar/6070 ^@ RECQL4, IVS7, 1-BP DEL, +2 http://identifiers.org/clinvar/6071 ^@ RECQL4, GLU1091TER http://identifiers.org/clinvar/6072 ^@ NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter) http://identifiers.org/clinvar/6073 ^@ NM_004260.3(RECQL4):c.3061C>T (p.Arg1021Trp) http://identifiers.org/clinvar/6075 ^@ NM_004260.3(RECQL4):c.3056-2A>C http://identifiers.org/clinvar/6076 ^@ NM_004260.3(RECQL4):c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro) http://identifiers.org/clinvar/6077 ^@ NM_004260.3(RECQL4):c.1704+1G>A http://identifiers.org/clinvar/6078 ^@ NM_005460.3(SNCAIP):c.1861C>T (p.Arg621Cys) http://identifiers.org/clinvar/6079 ^@ NM_004917.4(KLK4):c.458G>A (p.Trp153Ter) http://identifiers.org/clinvar/277678 ^@ NM_145343.2(APOL1):c.1072A>G (p.Ser358Gly) http://identifiers.org/clinvar/6081 ^@ NM_145343.2(APOL1):c.1212_1217delTTATAA (p.Asn404_Tyr405del) http://identifiers.org/clinvar/6082 ^@ NM_001139.2(ALOX12B):c.1387delT (p.Phe463Leufs) http://identifiers.org/clinvar/6083 ^@ NM_001139.2(ALOX12B):c.1277T>C (p.Leu426Pro) http://identifiers.org/clinvar/6084 ^@ NM_001139.2(ALOX12B):c.1734C>A (p.His578Gln) http://identifiers.org/clinvar/6085 ^@ NM_003640.4(IKBKAP):c.2204+6T>C http://identifiers.org/clinvar/6086 ^@ NM_003640.4(IKBKAP):c.2087G>C (p.Arg696Pro) http://identifiers.org/clinvar/6087 ^@ NM_003640.4(IKBKAP):c.2741C>T (p.Pro914Leu) http://identifiers.org/clinvar/6088 ^@ NM_021101.4(CLDN1):c.200_201delTT (p.Phe67Terfs) http://identifiers.org/clinvar/6089 ^@ NM_021101.4(CLDN1):c.358delG (p.Val120Serfs) http://identifiers.org/clinvar/6090 ^@ GCM2, EX1-4DEL http://identifiers.org/clinvar/6091 ^@ NM_004752.3(GCM2):c.140G>T (p.Arg47Leu) http://identifiers.org/clinvar/6092 ^@ NM_004752.3(GCM2):c.187G>A (p.Gly63Ser) http://identifiers.org/clinvar/6093 ^@ NM_005413.3(SIX3):c.676C>G (p.Leu226Val) http://identifiers.org/clinvar/6094 ^@ NM_005413.3(SIX3):c.770G>C (p.Arg257Pro) http://identifiers.org/clinvar/6095 ^@ NM_005413.3(SIX3):c.749T>C (p.Val250Ala) http://identifiers.org/clinvar/6096 ^@ SIX3, 2-BP INS, 557GG http://identifiers.org/clinvar/6097 ^@ SIX3, 2-BP INS, 406GC http://identifiers.org/clinvar/6098 ^@ NM_005413.3(SIX3):c.206G>A (p.Gly69Asp) http://identifiers.org/clinvar/6099 ^@ NM_005413.3(SIX3):c.339G>T (p.Trp113Cys) http://identifiers.org/clinvar/6100 ^@ NM_004820.4(CYP7B1):c.1162C>T (p.Arg388Ter) http://identifiers.org/clinvar/6101 ^@ NM_004820.4(CYP7B1):c.1088C>T (p.Ser363Phe) http://identifiers.org/clinvar/6102 ^@ NM_004820.4(CYP7B1):c.169G>A (p.Gly57Arg) http://identifiers.org/clinvar/6103 ^@ NM_004820.4(CYP7B1):c.1250G>A (p.Arg417His) http://identifiers.org/clinvar/6104 ^@ NM_004820.4(CYP7B1):c.647T>C (p.Phe216Ser) http://identifiers.org/clinvar/6105 ^@ NM_004820.4(CYP7B1):c.825T>A (p.Tyr275Ter) http://identifiers.org/clinvar/6106 ^@ NM_004820.4(CYP7B1):c.1408T>A (p.Phe470Ile) http://identifiers.org/clinvar/6107 ^@ NM_004820.4(CYP7B1):c.1456C>T (p.Arg486Cys) http://identifiers.org/clinvar/6108 ^@ NM_004531.4(MOCS2):c.539_540delAA (p.Lys180Argfs) http://identifiers.org/clinvar/6109 ^@ NM_004531.4(MOCS2):c.502G>A (p.Glu168Lys) http://identifiers.org/clinvar/6110 ^@ NM_176806.3(MOCS2):c.*266_*269delGTCA http://identifiers.org/clinvar/6111 ^@ NM_004531.4(MOCS2):c.65dupC (p.Leu23Ilefs) http://identifiers.org/clinvar/6112 ^@ NM_004531.4(MOCS2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/6113 ^@ NM_176806.3(MOCS2):c.16C>T (p.Gln6Ter) http://identifiers.org/clinvar/6114 ^@ NM_176806.3(MOCS2):c.19G>T (p.Val7Phe) http://identifiers.org/clinvar/6115 ^@ NM_004531.4(MOCS2):c.567A>C (p.Ter189Tyr) http://identifiers.org/clinvar/6116 ^@ NM_004531.4(MOCS2):c.-656_-634del23 http://identifiers.org/clinvar/6117 ^@ NM_001075098.3(MOCS1):c.722delT (p.Leu241Argfs) http://identifiers.org/clinvar/6118 ^@ NM_001075098.3(MOCS1):c.*365_*366delAG http://identifiers.org/clinvar/6119 ^@ NM_001075098.3(MOCS1):c.956G>A (p.Arg319Gln) http://identifiers.org/clinvar/6120 ^@ NM_001075098.3(MOCS1):c.418+1G>A http://identifiers.org/clinvar/6121 ^@ NM_001075098.3(MOCS1):c.217C>T (p.Arg73Trp) http://identifiers.org/clinvar/6122 ^@ NM_001029.3(RPS26):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/6123 ^@ NM_001029.3(RPS26):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/6124 ^@ NM_001029.3(RPS26):c.97G>A (p.Asp33Asn) http://identifiers.org/clinvar/6125 ^@ NM_001029.3(RPS26):c.31dupG (p.Ala11Glyfs) http://identifiers.org/clinvar/6126 ^@ NM_001029.3(RPS26):c.3+1G>A http://identifiers.org/clinvar/6127 ^@ NM_012082.3(ZFPM2):c.1969A>G (p.Ser657Gly) http://identifiers.org/clinvar/6128 ^@ NM_012082.3(ZFPM2):c.89A>G (p.Glu30Gly) http://identifiers.org/clinvar/6129 ^@ NM_012082.3(ZFPM2):c.334C>T (p.Arg112Ter) http://identifiers.org/clinvar/6130 ^@ NM_012082.3(ZFPM2):c.2107A>C (p.Met703Leu) http://identifiers.org/clinvar/6131 ^@ NM_012082.3(ZFPM2):c.2527A>G (p.Thr843Ala) http://identifiers.org/clinvar/6132 ^@ NM_004733.3(SLC33A1):c.339T>G (p.Ser113Arg) http://identifiers.org/clinvar/6133 ^@ NM_194248.2(OTOF):c.4491T>A (p.Tyr1497Ter) http://identifiers.org/clinvar/6134 ^@ NM_194248.2(OTOF):c.766-2A>G http://identifiers.org/clinvar/6135 ^@ OTOF, IVS5, G-A, +1 http://identifiers.org/clinvar/6136 ^@ NM_194248.2(OTOF):c.5816G>A (p.Arg1939Gln) http://identifiers.org/clinvar/6137 ^@ NM_194248.2(OTOF):c.2485C>T (p.Gln829Ter) http://identifiers.org/clinvar/6138 ^@ NM_194248.2(OTOF):c.5473C>G (p.Pro1825Ala) http://identifiers.org/clinvar/6139 ^@ OTOF, 1-BP DEL, 1778G http://identifiers.org/clinvar/6140 ^@ NM_194248.2(OTOF):c.4960+1G>C http://identifiers.org/clinvar/6141 ^@ NM_194323.2(OTOF):c.3659C>G (p.Pro1220Arg) http://identifiers.org/clinvar/6142 ^@ NM_194248.2(OTOF):c.3032T>C (p.Leu1011Pro) http://identifiers.org/clinvar/6143 ^@ NM_194248.2(OTOF):c.1544T>C (p.Ile515Thr) http://identifiers.org/clinvar/6144 ^@ NR_002717.2(ATXN8OS):n.1103_1105CTG(15_40) http://identifiers.org/clinvar/6145 ^@ NM_001166292.1(PTCH2):c.1172_1173delCT (p.Ser391Terfs) http://identifiers.org/clinvar/6146 ^@ NM_003738.4(PTCH2):c.3357+5C>T http://identifiers.org/clinvar/6147 ^@ NM_001166292.1(PTCH2):c.2156G>A (p.Arg719Gln) http://identifiers.org/clinvar/6148 ^@ NM_003705.4(SLC25A12):c.1769A>G (p.Gln590Arg) http://identifiers.org/clinvar/6149 ^@ STX16, 3-KB TO 4.4-KB MICRODELETION http://identifiers.org/clinvar/6150 ^@ NM_001011.3(RPS7):c.147+1G>A http://identifiers.org/clinvar/6151 ^@ NM_004621.5(TRPC6):c.335C>A (p.Pro112Gln) http://identifiers.org/clinvar/6152 ^@ NM_004621.5(TRPC6):c.428A>G (p.Asn143Ser) http://identifiers.org/clinvar/6153 ^@ NM_004621.5(TRPC6):c.808T>A (p.Ser270Thr) http://identifiers.org/clinvar/6154 ^@ NM_004621.5(TRPC6):c.2620A>T (p.Lys874Ter) http://identifiers.org/clinvar/6155 ^@ NM_004621.5(TRPC6):c.2683C>T (p.Arg895Cys) http://identifiers.org/clinvar/6156 ^@ NM_004621.5(TRPC6):c.2689G>A (p.Glu897Lys) http://identifiers.org/clinvar/6157 ^@ NM_152384.2(BBS5):c.522+3A>G http://identifiers.org/clinvar/6158 ^@ BBS5, LEU142TER http://identifiers.org/clinvar/6159 ^@ BBS5, 8-BP DEL/7-BP INS, NT263 http://identifiers.org/clinvar/6160 ^@ BBS5, TRP59TER http://identifiers.org/clinvar/6161 ^@ NM_152384.2(BBS5):c.214G>A (p.Gly72Ser) http://identifiers.org/clinvar/6162 ^@ NM_152384.2(BBS5):c.547A>G (p.Thr183Ala) http://identifiers.org/clinvar/6163 ^@ NM_004328.4(BCS1L):c.830G>A (p.Ser277Asn) http://identifiers.org/clinvar/6164 ^@ NM_004328.4(BCS1L):c.296C>T (p.Pro99Leu) http://identifiers.org/clinvar/6165 ^@ NM_004328.4(BCS1L):c.464G>C (p.Arg155Pro) http://identifiers.org/clinvar/6166 ^@ NM_004328.4(BCS1L):c.1057G>A (p.Val353Met) http://identifiers.org/clinvar/6167 ^@ NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly) http://identifiers.org/clinvar/6168 ^@ NM_004328.4(BCS1L):c.133C>T (p.Arg45Cys) http://identifiers.org/clinvar/6169 ^@ NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter) http://identifiers.org/clinvar/6170 ^@ NM_004328.4(BCS1L):c.548G>A (p.Arg183His) http://identifiers.org/clinvar/6171 ^@ NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys) http://identifiers.org/clinvar/6172 ^@ NM_004328.4(BCS1L):c.103G>C (p.Gly35Arg) http://identifiers.org/clinvar/6173 ^@ NM_004328.4(BCS1L):c.148A>G (p.Thr50Ala) http://identifiers.org/clinvar/6174 ^@ NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys) http://identifiers.org/clinvar/6175 ^@ NM_004376.6(COX15):c.649C>T (p.Arg217Trp) http://identifiers.org/clinvar/6176 ^@ COX15, IVS3, C-G, -3 http://identifiers.org/clinvar/6177 ^@ NM_004589.3(SCO1):c.363_364delGA (p.Lys122Valfs) http://identifiers.org/clinvar/6178 ^@ NM_004589.3(SCO1):c.521C>T (p.Pro174Leu) http://identifiers.org/clinvar/6179 ^@ NM_000969.3(RPL5):c.67C>T (p.Arg23Ter) http://identifiers.org/clinvar/6180 ^@ NM_000969.3(RPL5):c.418G>A (p.Gly140Ser) http://identifiers.org/clinvar/6181 ^@ RPL5, 2-BP DEL, 173GA http://identifiers.org/clinvar/6182 ^@ RPL5, 1-BP INS, 235T http://identifiers.org/clinvar/6183 ^@ RPL5, 5-BP DEL/39-BP INS, NT498 http://identifiers.org/clinvar/6184 ^@ RPL5, IVS2DS, T-G, +2 http://identifiers.org/clinvar/6185 ^@ NM_001014.4(RPS10):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/6186 ^@ RPS10, 1-BP INS, 260C http://identifiers.org/clinvar/6187 ^@ NM_001014.4(RPS10):c.337C>T (p.Arg113Ter) http://identifiers.org/clinvar/6188 ^@ NM_003680.3(YARS):c.121G>A (p.Gly41Arg) http://identifiers.org/clinvar/6189 ^@ NM_003680.3(YARS):c.586G>A (p.Glu196Lys) http://identifiers.org/clinvar/6190 ^@ NM_003680.3(YARS):c.458_469delTAAAGCAGGTGG (p.Val153_Val156del) http://identifiers.org/clinvar/6191 ^@ NM_001142548.1(RAD54L):c.188C>A (p.Pro63His) http://identifiers.org/clinvar/6192 ^@ NM_001142548.1(RAD54L):c.1331T>A (p.Val444Glu) http://identifiers.org/clinvar/6193 ^@ NM_001142548.1(RAD54L):c.973G>A (p.Gly325Arg) http://identifiers.org/clinvar/6194 ^@ TNFRSF10B, 2-BP INS http://identifiers.org/clinvar/6195 ^@ NM_003560.2(PLA2G6):c.2370T>G (p.Tyr790Ter) http://identifiers.org/clinvar/6196 ^@ NM_003560.2(PLA2G6):c.1634A>C (p.Lys545Thr) http://identifiers.org/clinvar/6197 ^@ NM_003560.2(PLA2G6):c.929T>A (p.Val310Glu) http://identifiers.org/clinvar/6198 ^@ NM_003560.2(PLA2G6):c.2070_2072delTGT (p.Val691del) http://identifiers.org/clinvar/6199 ^@ NM_003560.2(PLA2G6):c.1894C>T (p.Arg632Trp) http://identifiers.org/clinvar/6201 ^@ NM_003560.2(PLA2G6):c.2370_2371delTG (p.Tyr790Terfs) http://identifiers.org/clinvar/6202 ^@ NM_003560.2(PLA2G6):c.238G>A (p.Ala80Thr) http://identifiers.org/clinvar/6203 ^@ NM_003560.2(PLA2G6):c.2222G>A (p.Arg741Gln) http://identifiers.org/clinvar/6204 ^@ NM_003560.2(PLA2G6):c.2239C>T (p.Arg747Trp) http://identifiers.org/clinvar/6205 ^@ SLC7A7, IVS6AS, A-T, -2 http://identifiers.org/clinvar/6206 ^@ SLC7A7, 455-BP DEL, NT197 http://identifiers.org/clinvar/6207 ^@ SLC7A7, 4-BP INS, 1384ATCA http://identifiers.org/clinvar/6208 ^@ NM_001126105.2(SLC7A7):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/6209 ^@ NM_001126105.2(SLC7A7):c.1001T>G (p.Leu334Arg) http://identifiers.org/clinvar/6210 ^@ SLC7A7, 4-BP DEL, 1005CTTT http://identifiers.org/clinvar/6211 ^@ NM_001126105.2(SLC7A7):c.161G>T (p.Gly54Val) http://identifiers.org/clinvar/6212 ^@ NM_001126105.2(SLC7A7):c.1228C>T (p.Arg410Ter) http://identifiers.org/clinvar/6213 ^@ SLC7A7, IVS4DS, G-A, +1 http://identifiers.org/clinvar/6214 ^@ NM_001126105.2(SLC7A7):c.726G>A (p.Trp242Ter) http://identifiers.org/clinvar/6215 ^@ SLC7A7, EX6-11, DEL http://identifiers.org/clinvar/6216 ^@ NM_004737.5(LARGE1):c.1525G>A (p.Glu509Lys) http://identifiers.org/clinvar/6217 ^@ LARGE, 1-BP INS, 1999T http://identifiers.org/clinvar/6218 ^@ LARGE, 63-KB DEL http://identifiers.org/clinvar/6219 ^@ NM_004737.5(LARGE1):c.1483T>C (p.Trp495Arg) http://identifiers.org/clinvar/6220 ^@ LARGE, GLN87FS http://identifiers.org/clinvar/6221 ^@ NM_004737.5(LARGE1):c.992C>T (p.Ser331Phe) http://identifiers.org/clinvar/6222 ^@ LARGE, 667FS http://identifiers.org/clinvar/6223 ^@ TRPM1, IVS16DS, T-C, +2 http://identifiers.org/clinvar/6224 ^@ TRPM1, 1-BP DEL, 412G http://identifiers.org/clinvar/6225 ^@ NM_002420.5(TRPM1):c.3105T>A (p.Tyr1035Ter) http://identifiers.org/clinvar/6226 ^@ NM_002420.5(TRPM1):c.31C>T (p.Gln11Ter) http://identifiers.org/clinvar/6227 ^@ NM_002420.5(TRPM1):c.296T>C (p.Leu99Pro) http://identifiers.org/clinvar/6228 ^@ NM_002420.5(TRPM1):c.1832C>A (p.Pro611His) http://identifiers.org/clinvar/6229 ^@ TRPM1, 36.4-KB DEL, EX2-7 http://identifiers.org/clinvar/6230 ^@ VNN1, G-137T http://identifiers.org/clinvar/6231 ^@ NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) http://identifiers.org/clinvar/6232 ^@ MTMR2, IVS13, G-A, +1 http://identifiers.org/clinvar/6233 ^@ NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) http://identifiers.org/clinvar/6234 ^@ NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) http://identifiers.org/clinvar/6235 ^@ MTMR2, 10-BP DEL/2-BP INS http://identifiers.org/clinvar/6236 ^@ EYA4, 2-BP INS, 1468AA http://identifiers.org/clinvar/6237 ^@ EYA4, 2200C-T http://identifiers.org/clinvar/6238 ^@ EYA4, 4,846-BP DEL http://identifiers.org/clinvar/6239 ^@ EYA4, 2-BP INS, 1490AA http://identifiers.org/clinvar/6240 ^@ EYA4, IVS14, 1282-12T-A http://identifiers.org/clinvar/6241 ^@ NM_004700.3(KCNQ4):c.853G>A (p.Gly285Ser) http://identifiers.org/clinvar/6242 ^@ NM_004700.3(KCNQ4):c.827G>C (p.Trp276Ser) http://identifiers.org/clinvar/6243 ^@ NM_004700.3(KCNQ4):c.961G>A (p.Gly321Ser) http://identifiers.org/clinvar/6244 ^@ NM_004700.3(KCNQ4):c.853G>T (p.Gly285Cys) http://identifiers.org/clinvar/6245 ^@ NM_004700.3(KCNQ4):c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) http://identifiers.org/clinvar/6246 ^@ NM_004700.3(KCNQ4):c.842T>C (p.Leu281Ser) http://identifiers.org/clinvar/6247 ^@ NM_004700.3(KCNQ4):c.821T>A (p.Leu274His) http://identifiers.org/clinvar/6248 ^@ NM_004700.3(KCNQ4):c.211delC (p.Gln71Serfs) http://identifiers.org/clinvar/6249 ^@ NM_004700.3(KCNQ4):c.886G>A (p.Gly296Ser) http://identifiers.org/clinvar/6250 ^@ NM_003921.4(BCL10):c.499dupT (p.Ser167Phefs) http://identifiers.org/clinvar/6251 ^@ NM_003921.4(BCL10):c.163dupA (p.Ile55Asnfs) http://identifiers.org/clinvar/6252 ^@ NM_003921.4(BCL10):c.345delA (p.Gly116Aspfs) http://identifiers.org/clinvar/6253 ^@ NM_003921.4(BCL10):c.427_428dupTT (p.Glu145Leufs) http://identifiers.org/clinvar/6254 ^@ NM_003921.4(BCL10):c.231dupA (p.Gly78Argfs) http://identifiers.org/clinvar/6255 ^@ NM_003921.4(BCL10):c.525_541del17 (p.Val176Asnfs) http://identifiers.org/clinvar/6256 ^@ NM_003921.4(BCL10):c.410delA (p.Asn137Ilefs) http://identifiers.org/clinvar/6257 ^@ NM_003921.4(BCL10):c.398dupT (p.Ser134Leufs) http://identifiers.org/clinvar/6258 ^@ NM_003921.4(BCL10):c.635_637delAAG (p.Glu212del) http://identifiers.org/clinvar/6259 ^@ NM_003921.4(BCL10):c.136dupA (p.Ile46Asnfs) http://identifiers.org/clinvar/6260 ^@ NM_003921.4(BCL10):c.428delT (p.Phe143Serfs) http://identifiers.org/clinvar/6263 ^@ NM_003921.4(BCL10):c.136delA (p.Ile46Tyrfs) http://identifiers.org/clinvar/6265 ^@ NM_003921.4(BCL10):c.172C>G (p.Arg58Gly) http://identifiers.org/clinvar/6266 ^@ NM_003921.4(BCL10):c.172C>T (p.Arg58Ter) http://identifiers.org/clinvar/6267 ^@ NM_002336.2(LRP6):c.1831C>T (p.Arg611Cys) http://identifiers.org/clinvar/6268 ^@ NM_002335.3(LRP5):c.29G>A (p.Trp10Ter) http://identifiers.org/clinvar/6269 ^@ NM_002335.3(LRP5):c.1282C>T (p.Arg428Ter) http://identifiers.org/clinvar/6270 ^@ LRP5, 1-BP DEL, 1467G http://identifiers.org/clinvar/6271 ^@ NM_002335.3(LRP5):c.2151dupT (p.Asp718Terfs) http://identifiers.org/clinvar/6272 ^@ NM_002335.3(LRP5):c.2557C>T (p.Gln853Ter) http://identifiers.org/clinvar/6273 ^@ LRP5, 1-BP DEL, 3804A http://identifiers.org/clinvar/6274 ^@ NM_002335.3(LRP5):c.1481G>A (p.Arg494Gln) http://identifiers.org/clinvar/6275 ^@ NM_002335.3(LRP5):c.1708C>T (p.Arg570Trp) http://identifiers.org/clinvar/6276 ^@ NM_002335.3(LRP5):c.1999G>A (p.Val667Met) http://identifiers.org/clinvar/6277 ^@ NM_002335.3(LRP5):c.1453G>T (p.Glu485Ter) http://identifiers.org/clinvar/6278 ^@ NM_002335.3(LRP5):c.2202G>A (p.Trp734Ter) http://identifiers.org/clinvar/6279 ^@ LRP5, 1-BP DEL, 2305G http://identifiers.org/clinvar/6280 ^@ NM_002335.3(LRP5):c.512G>T (p.Gly171Val) http://identifiers.org/clinvar/6281 ^@ NM_002335.3(LRP5):c.511G>C (p.Gly171Arg) http://identifiers.org/clinvar/6282 ^@ NM_002335.3(LRP5):c.724G>A (p.Ala242Thr) http://identifiers.org/clinvar/6283 ^@ NM_002335.3(LRP5):c.640G>A (p.Ala214Thr) http://identifiers.org/clinvar/6284 ^@ NM_002335.3(LRP5):c.641C>T (p.Ala214Val) http://identifiers.org/clinvar/6285 ^@ NM_002335.3(LRP5):c.758C>T (p.Thr253Ile) http://identifiers.org/clinvar/6286 ^@ LRP5, 2220C-T http://identifiers.org/clinvar/6287 ^@ NM_002335.3(LRP5):c.4488+2T>G http://identifiers.org/clinvar/6288 ^@ NM_002335.3(LRP5):c.4119dupC (p.Lys1374Glnfs) http://identifiers.org/clinvar/6289 ^@ NM_002335.3(LRP5):c.1709G>A (p.Arg570Gln) http://identifiers.org/clinvar/6290 ^@ NM_002335.3(LRP5):c.2254C>G (p.Arg752Gly) http://identifiers.org/clinvar/6291 ^@ NM_002335.3(LRP5):c.4099G>A (p.Glu1367Lys) http://identifiers.org/clinvar/6292 ^@ NM_002335.3(LRP5):c.433C>T (p.Leu145Phe) http://identifiers.org/clinvar/6293 ^@ NM_002335.3(LRP5):c.1330C>T (p.Arg444Cys) http://identifiers.org/clinvar/6294 ^@ NM_002335.3(LRP5):c.1828G>A (p.Gly610Arg) http://identifiers.org/clinvar/6295 ^@ NM_002335.3(LRP5):c.803_812delGGGGGAAGAG (p.Gly269Argfs) http://identifiers.org/clinvar/6296 ^@ NM_003859.2(DPM1):c.274C>G (p.Arg92Gly) http://identifiers.org/clinvar/6297 ^@ DPM1, 13-BP DEL http://identifiers.org/clinvar/6298 ^@ DPM1, 1-BP DEL, 628C http://identifiers.org/clinvar/6299 ^@ NM_003839.3(TNFRSF11A):c.46_63dup18 (p.Leu21_Ala22insLeuLeuCysAlaLeuLeu) http://identifiers.org/clinvar/6300 ^@ NM_003839.3(TNFRSF11A):c.39_65dup27 (p.Ala22_Arg23insLeuLeuLeuLeuCysAlaLeuLeuAla) http://identifiers.org/clinvar/6301 ^@ NM_003839.3(TNFRSF11A):c.508A>G (p.Arg170Gly) http://identifiers.org/clinvar/6302 ^@ NM_003839.3(TNFRSF11A):c.523T>C (p.Cys175Arg) http://identifiers.org/clinvar/6303 ^@ NM_003839.3(TNFRSF11A):c.385C>T (p.Arg129Cys) http://identifiers.org/clinvar/6304 ^@ NM_003839.3(TNFRSF11A):c.730G>T (p.Ala244Ser) http://identifiers.org/clinvar/6305 ^@ NM_003839.3(TNFRSF11A):c.157G>C (p.Gly53Arg) http://identifiers.org/clinvar/6306 ^@ NM_001015879.1(AURKC):c.88delC (p.Leu30Trpfs) http://identifiers.org/clinvar/6307 ^@ NM_001015879.1(AURKC):c.629G>A (p.Cys210Tyr) http://identifiers.org/clinvar/6308 ^@ NM_030761.4(WNT4):c.647A>G (p.Glu216Gly) http://identifiers.org/clinvar/6309 ^@ NM_030761.4(WNT4):c.341C>T (p.Ala114Val) http://identifiers.org/clinvar/6310 ^@ NM_030761.4(WNT4):c.247C>T (p.Arg83Trp) http://identifiers.org/clinvar/6311 ^@ NM_030761.4(WNT4):c.35T>C (p.Leu12Pro) http://identifiers.org/clinvar/6312 ^@ NM_003613.3(CILP):c.1184T>C (p.Ile395Thr) http://identifiers.org/clinvar/6313 ^@ NM_001022.3(RPS19):c.280C>T (p.Arg94Ter) http://identifiers.org/clinvar/6314 ^@ NM_001022.3(RPS19):c.184C>T (p.Arg62Trp) http://identifiers.org/clinvar/6315 ^@ NM_001022.3(RPS19):c.98G>A (p.Trp33Ter) http://identifiers.org/clinvar/6316 ^@ NM_001022.3(RPS19):c.250A>T (p.Arg84Ter) http://identifiers.org/clinvar/6317 ^@ NM_001022.3(RPS19):c.307delG (p.Val103Serfs) http://identifiers.org/clinvar/6318 ^@ RPS19, LEU45GLN AND 2-BP INS, 160CT http://identifiers.org/clinvar/242804 ^@ NM_001022.3(RPS19):c.43G>T (p.Val15Phe) http://identifiers.org/clinvar/6320 ^@ NM_001022.3(RPS19):c.380G>A (p.Gly127Glu) http://identifiers.org/clinvar/6321 ^@ ASS1, EX5DEL http://identifiers.org/clinvar/6322 ^@ ASS1, EX6DEL http://identifiers.org/clinvar/6323 ^@ ASS1, IVS6AS, A-G, -2 http://identifiers.org/clinvar/6324 ^@ NM_000050.4(ASS1):c.40G>A (p.Gly14Ser) http://identifiers.org/clinvar/6325 ^@ NM_000050.4(ASS1):c.470G>A (p.Arg157His) http://identifiers.org/clinvar/6326 ^@ NM_000050.4(ASS1):c.539G>A (p.Ser180Asn) http://identifiers.org/clinvar/6327 ^@ NM_000050.4(ASS1):c.970G>A (p.Gly324Ser) http://identifiers.org/clinvar/6328 ^@ NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) http://identifiers.org/clinvar/6329 ^@ NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg) http://identifiers.org/clinvar/6330 ^@ NM_000050.4(ASS1):c.910C>T (p.Arg304Trp) http://identifiers.org/clinvar/6331 ^@ NM_000050.4(ASS1):c.53C>T (p.Ser18Leu) http://identifiers.org/clinvar/6332 ^@ NM_000050.4(ASS1):c.256C>T (p.Arg86Cys) http://identifiers.org/clinvar/6333 ^@ NM_000050.4(ASS1):c.835C>T (p.Arg279Ter) http://identifiers.org/clinvar/6334 ^@ NM_000050.4(ASS1):c.323G>T (p.Arg108Leu) http://identifiers.org/clinvar/6335 ^@ NM_000050.4(ASS1):c.535T>C (p.Trp179Arg) http://identifiers.org/clinvar/6336 ^@ NM_000050.4(ASS1):c.1085G>T (p.Gly362Val) http://identifiers.org/clinvar/6337 ^@ ASS1, IVS6, G-A, +5 http://identifiers.org/clinvar/6338 ^@ ASS1, IVS15, G-C, -1 http://identifiers.org/clinvar/6339 ^@ NM_000050.4(ASS1):c.928A>C (p.Lys310Gln) http://identifiers.org/clinvar/6340 ^@ NM_022725.3(FANCF):c.230_252del23 (p.Val77Glyfs) http://identifiers.org/clinvar/6341 ^@ NM_022725.3(FANCF):c.349_395del47 (p.Gly120Profs) http://identifiers.org/clinvar/6342 ^@ NM_022725.3(FANCF):c.16C>T (p.Gln6Ter) http://identifiers.org/clinvar/6343 ^@ NM_022725.3(FANCF):c.484_485delCT (p.Leu162Aspfs) http://identifiers.org/clinvar/6344 ^@ NM_022725.3(FANCF):c.327C>G (p.Tyr109Ter) http://identifiers.org/clinvar/6345 ^@ NM_022817.2(PER2):c.1984A>G (p.Ser662Gly) http://identifiers.org/clinvar/6346 ^@ NM_003690.4(PRKRA):c.665C>T (p.Pro222Leu) http://identifiers.org/clinvar/6347 ^@ NM_003690.4(PRKRA):c.267_268delTA (p.His89Glnfs) http://identifiers.org/clinvar/6348 ^@ RIL, -3333T-C http://identifiers.org/clinvar/6349 ^@ NM_002977.3(SCN9A):c.2573T>A (p.Leu858His) http://identifiers.org/clinvar/6350 ^@ NM_002977.3(SCN9A):c.2543T>C (p.Ile848Thr) http://identifiers.org/clinvar/6351 ^@ NM_002977.3(SCN9A):c.721T>A (p.Ser241Thr) http://identifiers.org/clinvar/6352 ^@ NM_002977.3(SCN9A):c.4345T>G (p.Phe1449Val) http://identifiers.org/clinvar/6353 ^@ NM_002977.3(SCN9A):c.1376C>G (p.Ser459Ter) http://identifiers.org/clinvar/6354 ^@ SCN9A, 1-BP DEL, 2298T http://identifiers.org/clinvar/6355 ^@ NM_002977.3(SCN9A):c.2691G>A (p.Trp897Ter) http://identifiers.org/clinvar/6356 ^@ NM_002977.3(SCN9A):c.2986C>T (p.Arg996Cys) http://identifiers.org/clinvar/6357 ^@ NM_002977.3(SCN9A):c.3893T>A (p.Val1298Asp) http://identifiers.org/clinvar/6358 ^@ NM_002977.3(SCN9A):c.3892G>T (p.Val1298Phe) http://identifiers.org/clinvar/6359 ^@ NM_002977.3(SCN9A):c.3895G>T (p.Val1299Phe) http://identifiers.org/clinvar/6360 ^@ NM_002977.3(SCN9A):c.4382T>C (p.Ile1461Thr) http://identifiers.org/clinvar/6361 ^@ NM_002977.3(SCN9A):c.4391C>T (p.Thr1464Ile) http://identifiers.org/clinvar/6362 ^@ NM_002977.3(SCN9A):c.829C>T (p.Arg277Ter) http://identifiers.org/clinvar/6363 ^@ NM_002977.3(SCN9A):c.984C>A (p.Tyr328Ter) http://identifiers.org/clinvar/6364 ^@ NM_002977.3(SCN9A):c.2572C>T (p.Leu858Phe) http://identifiers.org/clinvar/6365 ^@ NM_002977.3(SCN9A):c.647T>C (p.Phe216Ser) http://identifiers.org/clinvar/6366 ^@ NM_002977.3(SCN9A):c.1921A>T (p.Asn641Tyr) http://identifiers.org/clinvar/6367 ^@ NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) http://identifiers.org/clinvar/6368 ^@ NM_002977.3(SCN9A):c.184A>G (p.Ile62Val) http://identifiers.org/clinvar/6369 ^@ NM_002977.3(SCN9A):c.446C>A (p.Pro149Gln) http://identifiers.org/clinvar/6370 ^@ NM_002977.3(SCN9A):c.29A>G (p.Gln10Arg) http://identifiers.org/clinvar/6371 ^@ NM_003664.4(AP3B1):c.1168_1230del63 (p.Leu390_Gln410del) http://identifiers.org/clinvar/6372 ^@ NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) http://identifiers.org/clinvar/6373 ^@ AP3B1, 1-BP INS, 1618G http://identifiers.org/clinvar/6374 ^@ AP3B1, IVS14DS, T-C, +6 http://identifiers.org/clinvar/6375 ^@ NM_003664.4(AP3B1):c.1474-7072_1650+921del http://identifiers.org/clinvar/6376 ^@ NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) http://identifiers.org/clinvar/6377 ^@ NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) http://identifiers.org/clinvar/6378 ^@ NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) http://identifiers.org/clinvar/6379 ^@ NM_003880.3(WISP3):c.434G>A (p.Cys145Tyr) http://identifiers.org/clinvar/6380 ^@ NM_003880.3(WISP3):c.993G>A (p.Trp331Ter) http://identifiers.org/clinvar/6381 ^@ NM_003880.3(WISP3):c.156C>A (p.Cys52Ter) http://identifiers.org/clinvar/6382 ^@ NM_003880.3(WISP3):c.232T>C (p.Cys78Arg) http://identifiers.org/clinvar/6383 ^@ NM_003880.3(WISP3):c.246delA (p.Glu84Lysfs) http://identifiers.org/clinvar/6384 ^@ NM_003880.3(WISP3):c.48+2dupT http://identifiers.org/clinvar/6385 ^@ NM_003880.3(WISP3):c.862_863dupAC (p.Gln289Leufs) http://identifiers.org/clinvar/6386 ^@ WISP3, 2-BP DEL, 43GC http://identifiers.org/clinvar/6387 ^@ WISP3, 2-BP DEL, 866AG http://identifiers.org/clinvar/6388 ^@ NM_003880.3(WISP3):c.1000T>C (p.Ser334Pro) http://identifiers.org/clinvar/6389 ^@ NM_003880.3(WISP3):c.840delT (p.Phe280Leufs) http://identifiers.org/clinvar/6390 ^@ NM_003719.3(PDE8B):c.914A>C (p.His305Pro) http://identifiers.org/clinvar/6391 ^@ PDE8B, 94G-C AND 1-BP DEL, 95T http://identifiers.org/clinvar/6392 ^@ NM_006772.2(SYNGAP1):c.412A>T (p.Lys138Ter) http://identifiers.org/clinvar/6393 ^@ NM_006772.2(SYNGAP1):c.1735C>T (p.Arg579Ter) http://identifiers.org/clinvar/6394 ^@ NM_006772.2(SYNGAP1):c.2438delT (p.Leu813Argfs) http://identifiers.org/clinvar/6395 ^@ NM_001457.3(FLNB):c.6408delC (p.Ser2137Leufs) http://identifiers.org/clinvar/6396 ^@ NM_001457.3(FLNB):c.2452C>T (p.Arg818Ter) http://identifiers.org/clinvar/6397 ^@ NM_001457.3(FLNB):c.4819C>T (p.Arg1607Ter) http://identifiers.org/clinvar/6398 ^@ NM_001457.3(FLNB):c.482T>G (p.Phe161Cys) http://identifiers.org/clinvar/6399 ^@ NM_001457.3(FLNB):c.4756G>A (p.Gly1586Arg) http://identifiers.org/clinvar/6400 ^@ NM_001457.3(FLNB):c.518C>T (p.Ala173Val) http://identifiers.org/clinvar/6401 ^@ NM_001457.3(FLNB):c.604A>G (p.Met202Val) http://identifiers.org/clinvar/6402 ^@ NM_001457.3(FLNB):c.2251G>C (p.Gly751Arg) http://identifiers.org/clinvar/6403 ^@ NM_001457.3(FLNB):c.512T>G (p.Leu171Arg) http://identifiers.org/clinvar/6404 ^@ NM_001457.3(FLNB):c.703T>C (p.Ser235Pro) http://identifiers.org/clinvar/6405 ^@ NM_001457.3(FLNB):c.679G>A (p.Glu227Lys) http://identifiers.org/clinvar/6406 ^@ NM_001457.3(FLNB):c.5071G>A (p.Gly1691Ser) http://identifiers.org/clinvar/6407 ^@ NM_001457.3(FLNB):c.6010C>T (p.Arg2004Ter) http://identifiers.org/clinvar/6408 ^@ NM_001457.3(FLNB):c.5548G>T (p.Gly1850Ter) http://identifiers.org/clinvar/6409 ^@ SLC22A5, 113-BP DEL http://identifiers.org/clinvar/6410 ^@ SLC22A5, 1-BP INS, 226C http://identifiers.org/clinvar/6411 ^@ NM_003060.3(SLC22A5):c.396G>A (p.Trp132Ter) http://identifiers.org/clinvar/6412 ^@ SLC22A5, IVS8AS, G-A, -1 http://identifiers.org/clinvar/6413 ^@ SLC22A5, 1394-BP DEL http://identifiers.org/clinvar/6414 ^@ NM_003060.3(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219Metfs) http://identifiers.org/clinvar/6415 ^@ NM_003060.3:c.654_825del http://identifiers.org/clinvar/6416 ^@ NM_003060.3(SLC22A5):c.844C>T (p.Arg282Ter) http://identifiers.org/clinvar/6417 ^@ NM_003060.3(SLC22A5):c.1202dupA (p.Tyr401Terfs) http://identifiers.org/clinvar/6418 ^@ NM_003060.3(SLC22A5):c.1304delG (p.Gly435Alafs) http://identifiers.org/clinvar/6419 ^@ NM_003060.3(SLC22A5):c.1433C>T (p.Pro478Leu) http://identifiers.org/clinvar/6420 ^@ NM_003060.3(SLC22A5):c.632A>G (p.Tyr211Cys) http://identifiers.org/clinvar/6421 ^@ NM_003060.3(SLC22A5):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/6422 ^@ NM_003060.3(SLC22A5):c.505C>T (p.Arg169Trp) http://identifiers.org/clinvar/6423 ^@ NM_003060.3(SLC22A5):c.1051T>C (p.Trp351Arg) http://identifiers.org/clinvar/6424 ^@ NM_003060.3(SLC22A5):c.1196G>A (p.Arg399Gln) http://identifiers.org/clinvar/6425 ^@ NM_003060.3(SLC22A5):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/6426 ^@ NM_003060.3(SLC22A5):c.760C>T (p.Arg254Ter) http://identifiers.org/clinvar/6427 ^@ NM_003060.3(SLC22A5):c.1195C>T (p.Arg399Trp) http://identifiers.org/clinvar/6428 ^@ NM_003060.3(SLC22A5):c.1324_1325delGCinsAT (p.Ala442Ile) http://identifiers.org/clinvar/6429 ^@ NM_003060.3(SLC22A5):c.43G>T (p.Gly15Trp) http://identifiers.org/clinvar/6430 ^@ NM_000369.2(TSHR):c.106G>C (p.Asp36His) http://identifiers.org/clinvar/6431 ^@ NM_000369.2(TSHR):c.1856A>G (p.Asp619Gly) http://identifiers.org/clinvar/6432 ^@ NM_000369.2(TSHR):c.1867_1868delGCinsAT (p.Ala623Ile) http://identifiers.org/clinvar/6433 ^@ NM_000369.2(TSHR):c.1891T>C (p.Phe631Leu) http://identifiers.org/clinvar/6434 ^@ NM_000369.2(TSHR):c.500T>A (p.Ile167Asn) http://identifiers.org/clinvar/6435 ^@ NM_000369.2(TSHR):c.484C>G (p.Pro162Ala) http://identifiers.org/clinvar/6436 ^@ NM_000369.2(TSHR):c.1358T>C (p.Met453Thr) http://identifiers.org/clinvar/6437 ^@ NM_000369.2(TSHR):c.1897G>C (p.Asp633His) http://identifiers.org/clinvar/6438 ^@ NM_000369.2(TSHR):c.326G>A (p.Arg109Gln) http://identifiers.org/clinvar/6439 ^@ NM_000369.2(TSHR):c.1637G>A (p.Trp546Ter) http://identifiers.org/clinvar/6440 ^@ NM_000369.2(TSHR):c.970C>T (p.Gln324Ter) http://identifiers.org/clinvar/6441 ^@ NM_000369.2(TSHR):c.1228G>A (p.Asp410Asn) http://identifiers.org/clinvar/6442 ^@ NM_000369.2(TSHR):c.122G>C (p.Cys41Ser) http://identifiers.org/clinvar/6443 ^@ NM_000369.2(TSHR):c.1575C>A (p.Phe525Leu) http://identifiers.org/clinvar/6444 ^@ NM_000369.2(TSHR):c.1170T>G (p.Cys390Trp) http://identifiers.org/clinvar/6445 ^@ NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) http://identifiers.org/clinvar/6446 ^@ NM_000369.2(TSHR):c.842G>T (p.Ser281Ile) http://identifiers.org/clinvar/6447 ^@ TSHR, 18-BP DEL, 4-BP INS http://identifiers.org/clinvar/6448 ^@ NM_000369.2(TSHR):c.1526T>C (p.Val509Ala) http://identifiers.org/clinvar/6449 ^@ NM_000369.2(TSHR):c.2015G>A (p.Cys672Tyr) http://identifiers.org/clinvar/6450 ^@ NM_000369.2(TSHR):c.1514G>A (p.Ser505Asn) http://identifiers.org/clinvar/6451 ^@ NM_000369.2(TSHR):c.1887G>T (p.Leu629Phe) http://identifiers.org/clinvar/6452 ^@ NM_000369.2(TSHR):c.842G>A (p.Ser281Asn) http://identifiers.org/clinvar/6453 ^@ NM_000369.2(TSHR):c.548A>G (p.Lys183Arg) http://identifiers.org/clinvar/6454 ^@ NM_000369.2(TSHR):c.1915C>T (p.Pro639Ser) http://identifiers.org/clinvar/6455 ^@ NM_000369.2(TSHR):c.1430C>T (p.Thr477Ile) http://identifiers.org/clinvar/6456 ^@ NM_000369.2(TSHR):c.928C>T (p.Arg310Cys) http://identifiers.org/clinvar/6457 ^@ NM_000369.2(TSHR):c.1291G>A (p.Gly431Ser) http://identifiers.org/clinvar/6458 ^@ NM_000369.2(TSHR):c.1798T>C (p.Cys600Arg) http://identifiers.org/clinvar/6459 ^@ NM_000369.2(TSHR):c.1400T>C (p.Leu467Pro) http://identifiers.org/clinvar/6460 ^@ TSHR, 2-BP DEL, 654AC http://identifiers.org/clinvar/6461 ^@ NM_000369.2(TSHR):c.545+3G>C http://identifiers.org/clinvar/6462 ^@ NM_001003722.1(GLE1):c.433-10A>G http://identifiers.org/clinvar/6463 ^@ NM_001003722.1(GLE1):c.1706G>A (p.Arg569His) http://identifiers.org/clinvar/6464 ^@ NM_001003722.1(GLE1):c.1849G>A (p.Val617Met) http://identifiers.org/clinvar/6465 ^@ NM_001003722.1(GLE1):c.2051T>C (p.Ile684Thr) http://identifiers.org/clinvar/6466 ^@ NM_004813.2(PEX16):c.526C>T (p.Arg176Ter) http://identifiers.org/clinvar/6467 ^@ PEX16, IVSDS10, T-C, +2 http://identifiers.org/clinvar/6468 ^@ NM_001430.4(EPAS1):c.1609G>T (p.Gly537Trp) http://identifiers.org/clinvar/6469 ^@ NM_001430.4(EPAS1):c.1609G>A (p.Gly537Arg) http://identifiers.org/clinvar/6470 ^@ NM_001430.4(EPAS1):c.1603A>G (p.Met535Val) http://identifiers.org/clinvar/6471 ^@ NM_001098484.2(SLC4A4):c.1026A>C (p.Arg342Ser) http://identifiers.org/clinvar/6472 ^@ NM_001098484.2(SLC4A4):c.1661G>A (p.Arg554His) http://identifiers.org/clinvar/6473 ^@ NM_003759.3(SLC4A4):c.85C>T (p.Gln29Ter) http://identifiers.org/clinvar/6474 ^@ NM_001277115.1(DNAH11):c.8533C>T (p.Arg2845Ter) http://identifiers.org/clinvar/6475 ^@ NM_001277115.1(DNAH11):c.12363C>G (p.Tyr4121Ter) http://identifiers.org/clinvar/6476 ^@ NM_001277115.1(DNAH11):c.13531_*36del57 http://identifiers.org/clinvar/6477 ^@ DNAH5, 1-BP INS, 5563A http://identifiers.org/clinvar/6478 ^@ NM_001369.2(DNAH5):c.10555G>C (p.Gly3519Arg) http://identifiers.org/clinvar/6479 ^@ DNAH5, IVS74AS, G-C, -1 http://identifiers.org/clinvar/6480 ^@ NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter) http://identifiers.org/clinvar/6481 ^@ DNAH5, 1-BP INS, 5130A http://identifiers.org/clinvar/6482 ^@ NM_024009.2(GJB3):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/6483 ^@ NM_024009.2(GJB3):c.35G>A (p.Gly12Asp) http://identifiers.org/clinvar/6484 ^@ NM_024009.2(GJB3):c.256T>A (p.Cys86Ser) http://identifiers.org/clinvar/6485 ^@ NM_024009.2(GJB3):c.547G>A (p.Glu183Lys) http://identifiers.org/clinvar/6486 ^@ NM_024009.2(GJB3):c.538C>T (p.Arg180Ter) http://identifiers.org/clinvar/6487 ^@ NM_024009.2(GJB3):c.421_423delATT (p.Ile141del) http://identifiers.org/clinvar/6488 ^@ NM_024009.2(GJB3):c.421A>G (p.Ile141Val) http://identifiers.org/clinvar/6489 ^@ NM_024009.2(GJB3):c.125G>C (p.Arg42Pro) http://identifiers.org/clinvar/6490 ^@ NM_024009.2(GJB3):c.196_198delGAC (p.Asp66del) http://identifiers.org/clinvar/6491 ^@ NM_024009.2(GJB3):c.101T>C (p.Leu34Pro) http://identifiers.org/clinvar/6492 ^@ NM_024009.2(GJB3):c.497A>G (p.Asn166Ser) http://identifiers.org/clinvar/6493 ^@ NM_024009.2(GJB3):c.580G>A (p.Ala194Thr) http://identifiers.org/clinvar/6496 ^@ NM_032834.3(ALG10):c.1339G>A (p.Val447Ile) http://identifiers.org/clinvar/6497 ^@ BFSP1, 3.3-KB DEL, NT736 http://identifiers.org/clinvar/6498 ^@ NM_003597.4(KLF11):c.1039G>T (p.Ala347Ser) http://identifiers.org/clinvar/6499 ^@ NM_003597.4(KLF11):c.659C>T (p.Thr220Met) http://identifiers.org/clinvar/6500 ^@ NM_001080463.1(DYNC2H1):c.5971A>T (p.Met1991Leu) http://identifiers.org/clinvar/6501 ^@ NM_001080463.1(DYNC2H1):c.11284A>G (p.Met3762Val) http://identifiers.org/clinvar/6502 ^@ NM_001080463.1(DYNC2H1):c.626_654dup29 (p.Glu219Phefs) http://identifiers.org/clinvar/6503 ^@ NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) http://identifiers.org/clinvar/6504 ^@ NM_001080463.1(DYNC2H1):c.3719T>C (p.Ile1240Thr) http://identifiers.org/clinvar/6505 ^@ NM_001080463.1(DYNC2H1):c.10063G>T (p.Gly3355Ter) http://identifiers.org/clinvar/6506 ^@ NM_001080463.1(DYNC2H1):c.1759C>T (p.Arg587Cys) http://identifiers.org/clinvar/6507 ^@ NM_001080463.1(DYNC2H1):c.6614G>A (p.Arg2205His) http://identifiers.org/clinvar/6508 ^@ NM_001080463.1(DYNC2H1):c.8512C>T (p.Arg2838Ter) http://identifiers.org/clinvar/6509 ^@ NM_001080463.1(DYNC2H1):c.624_625delGTinsAA (p.Phe209Ile) http://identifiers.org/clinvar/6510 ^@ NM_001080463.1(DYNC2H1):c.5151+1G>T http://identifiers.org/clinvar/6511 ^@ NM_001080463.1(DYNC2H1):c.4610A>G (p.Gln1537Arg) http://identifiers.org/clinvar/6512 ^@ NM_001080463.1(DYNC2H1):c.7382G>T (p.Gly2461Val) http://identifiers.org/clinvar/6513 ^@ NM_001080463.1(DYNC2H1):c.5959A>G (p.Thr1987Ala) http://identifiers.org/clinvar/6514 ^@ NM_001080463.1(DYNC2H1):c.10130delT (p.Leu3377Cysfs) http://identifiers.org/clinvar/6515 ^@ NM_001127217.2(SMAD9):c.606C>A (p.Cys202Ter) http://identifiers.org/clinvar/6516 ^@ SHANK2, 120-KB DEL http://identifiers.org/clinvar/6517 ^@ SHANK2, 69-KB DEL http://identifiers.org/clinvar/6518 ^@ SHANK2, ARG462TER http://identifiers.org/clinvar/6519 ^@ NM_007035.3(KERA):c.740A>G (p.Asn247Ser) http://identifiers.org/clinvar/6520 ^@ NM_007035.3(KERA):c.520C>T (p.Gln174Ter) http://identifiers.org/clinvar/6521 ^@ NM_007035.3(KERA):c.644C>A (p.Thr215Lys) http://identifiers.org/clinvar/6522 ^@ NM_007035.3(KERA):c.937C>T (p.Arg313Ter) http://identifiers.org/clinvar/6523 ^@ NM_018129.3(PNPO):c.685C>T (p.Arg229Trp) http://identifiers.org/clinvar/6524 ^@ NM_018129.3(PNPO):c.364_417del54 http://identifiers.org/clinvar/6525 ^@ NM_018129.3(PNPO):c.784T>C (p.Ter262Gln) http://identifiers.org/clinvar/6526 ^@ NM_018129.3(PNPO):c.520C>T (p.Gln174Ter) http://identifiers.org/clinvar/6527 ^@ NM_003722.4(TP63):c.727C>T (p.Arg243Trp) http://identifiers.org/clinvar/6528 ^@ NM_003722.4(TP63):c.728G>A (p.Arg243Gln) http://identifiers.org/clinvar/6529 ^@ NM_003722.4(TP63):c.1033T>C (p.Cys345Arg) http://identifiers.org/clinvar/6530 ^@ TP63, 1-BP INS, 1572A http://identifiers.org/clinvar/6531 ^@ NM_003722.4(TP63):c.697A>G (p.Lys233Glu) http://identifiers.org/clinvar/6532 ^@ NM_003722.4(TP63):c.955C>T (p.Arg319Cys) http://identifiers.org/clinvar/6533 ^@ NM_003722.4(TP63):c.953G>A (p.Arg318His) http://identifiers.org/clinvar/6534 ^@ NM_003722.4(TP63):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/6535 ^@ NM_003722.4(TP63):c.1659A>T (p.Leu553Phe) http://identifiers.org/clinvar/6536 ^@ NM_003722.4(TP63):c.1681T>G (p.Cys561Gly) http://identifiers.org/clinvar/6537 ^@ NM_001114982.1(TP63):c.16A>C (p.Asn6His) http://identifiers.org/clinvar/6538 ^@ TP63, 2-BP DEL, 1576TT http://identifiers.org/clinvar/6539 ^@ TP63, 2-BP DEL, 1743AA http://identifiers.org/clinvar/6540 ^@ NM_003722.4(TP63):c.1010G>A (p.Arg337Gln) http://identifiers.org/clinvar/6541 ^@ NM_003722.4(TP63):c.1052A>G (p.Asp351Gly) http://identifiers.org/clinvar/6542 ^@ TP63, 1-BP DEL, 1709A http://identifiers.org/clinvar/6543 ^@ TP63, 1-BP DEL, 1859A http://identifiers.org/clinvar/6544 ^@ NM_003722.4(TP63):c.1646T>C (p.Ile549Thr) http://identifiers.org/clinvar/6545 ^@ NM_003722.4(TP63):c.1738T>C (p.Ser580Pro) http://identifiers.org/clinvar/6546 ^@ TP63, VAL114MET http://identifiers.org/clinvar/6547 ^@ NM_003722.4(TP63):c.1054A>G (p.Arg352Gly) http://identifiers.org/clinvar/6548 ^@ NM_003722.4(TP63):c.1009C>G (p.Arg337Gly) http://identifiers.org/clinvar/6549 ^@ NM_003722.4(TP63):c.289C>T (p.Arg97Cys) http://identifiers.org/clinvar/6550 ^@ NM_003722.4(TP63):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/6551 ^@ TP63, 1-BP DEL, 1783C http://identifiers.org/clinvar/6552 ^@ TP63, PRO127LEU http://identifiers.org/clinvar/6553 ^@ TP63, 11-BP DUP, NT1716 http://identifiers.org/clinvar/6554 ^@ NM_001128844.1(SMARCA4):c.3565C>T (p.Arg1189Ter) http://identifiers.org/clinvar/6555 ^@ NM_001203.2(BMPR1B):c.599T>A (p.Ile200Lys) http://identifiers.org/clinvar/6556 ^@ NM_001203.2(BMPR1B):c.1456C>T (p.Arg486Trp) http://identifiers.org/clinvar/6557 ^@ NM_001203.2(BMPR1B):c.361_368delGGACCTAT (p.Gly121Thrfs) http://identifiers.org/clinvar/6558 ^@ NM_001203.2(BMPR1B):c.1457G>A (p.Arg486Gln) http://identifiers.org/clinvar/6559 ^@ NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) http://identifiers.org/clinvar/6560 ^@ NM_001171.5(ABCC6):c.2787+1G>T http://identifiers.org/clinvar/6561 ^@ NM_001171.5(ABCC6):c.3413G>A (p.Arg1138Gln) http://identifiers.org/clinvar/6562 ^@ NM_001171.5(ABCC6):c.3341G>C (p.Arg1114Pro) http://identifiers.org/clinvar/6563 ^@ NM_001171.5(ABCC6):c.3775delT (p.Trp1259Glyfs) http://identifiers.org/clinvar/6564 ^@ NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) http://identifiers.org/clinvar/6566 ^@ NM_001171.5(ABCC6):c.4243_4244insAGAA (p.Ala1415Glufs) http://identifiers.org/clinvar/6567 ^@ ABCC6, 22-BP DEL http://identifiers.org/clinvar/6568 ^@ NC_000016.10:g.(?_15703134)_(16223472_?)del http://identifiers.org/clinvar/6569 ^@ NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) http://identifiers.org/clinvar/6570 ^@ NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) http://identifiers.org/clinvar/6571 ^@ NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) http://identifiers.org/clinvar/6572 ^@ NM_001171.5(ABCC6):c.3490C>T (p.Arg1164Ter) http://identifiers.org/clinvar/6573 ^@ NG_007558.2:g.(60799_60814)_(77206_77221)del http://identifiers.org/clinvar/6574 ^@ NM_001171.5(ABCC6):c.3736-1G>A http://identifiers.org/clinvar/6576 ^@ NM_001171.5(ABCC6):c.4015C>T (p.Arg1339Cys) http://identifiers.org/clinvar/6577 ^@ NM_001171.5(ABCC6):c.4375C>T (p.Arg1459Cys) http://identifiers.org/clinvar/6578 ^@ NM_001171.5(ABCC6):c.3892G>T (p.Val1298Phe) http://identifiers.org/clinvar/6579 ^@ NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) http://identifiers.org/clinvar/6580 ^@ NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser) http://identifiers.org/clinvar/6581 ^@ NM_001171.5(ABCC6):c.3712G>C (p.Asp1238His) http://identifiers.org/clinvar/6582 ^@ NM_001171.5(ABCC6):c.1087_1119del33 (p.Gln363_Arg373del) http://identifiers.org/clinvar/6583 ^@ NM_003571.3(BFSP2):c.859C>T (p.Arg287Trp) http://identifiers.org/clinvar/6584 ^@ NM_003571.3(BFSP2):c.697_699delGAA (p.Glu233del) http://identifiers.org/clinvar/6585 ^@ NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) http://identifiers.org/clinvar/6586 ^@ NM_002299.3(LCT):c.4170T>A (p.Tyr1390Ter) http://identifiers.org/clinvar/6587 ^@ LCT, 4-BP DEL, NT4998 http://identifiers.org/clinvar/6588 ^@ NM_002299.3(LCT):c.804G>C (p.Gln268His) http://identifiers.org/clinvar/6589 ^@ NM_003742.2(ABCB11):c.1723C>T (p.Arg575Ter) http://identifiers.org/clinvar/6590 ^@ NM_003742.2(ABCB11):c.890A>G (p.Glu297Gly) http://identifiers.org/clinvar/6591 ^@ ABCB11, 1-BP DEL, 908G http://identifiers.org/clinvar/6592 ^@ NM_003742.2(ABCB11):c.3767dupC (p.Val1257Glyfs) http://identifiers.org/clinvar/6593 ^@ NM_003742.2(ABCB11):c.150+3A>C http://identifiers.org/clinvar/6594 ^@ ABCB11, 5-BP INS, GAGAT http://identifiers.org/clinvar/6595 ^@ NM_003742.2(ABCB11):c.1295G>C (p.Arg432Thr) http://identifiers.org/clinvar/6596 ^@ NM_003742.2(ABCB11):c.3169C>T (p.Arg1057Ter) http://identifiers.org/clinvar/6597 ^@ RFXANK, 26-BP DEL, NT752 http://identifiers.org/clinvar/6598 ^@ RFXANK, 58-BP DEL http://identifiers.org/clinvar/6599 ^@ RFXANK, IVS4DS, G-C, +1 http://identifiers.org/clinvar/6600 ^@ NM_003721.3(RFXANK):c.362A>T (p.Asp121Val) http://identifiers.org/clinvar/6601 ^@ PTRF, 1-BP INS, 696C http://identifiers.org/clinvar/6602 ^@ PTRF, 1-BP DEL, 525G http://identifiers.org/clinvar/6603 ^@ PTRF, 1-BP DEL, 160G http://identifiers.org/clinvar/6604 ^@ PTRF, 1-BP DUP, 362T http://identifiers.org/clinvar/6605 ^@ NM_006702.4(PNPLA6):c.3034A>G (p.Met1012Val) http://identifiers.org/clinvar/6606 ^@ NM_006702.4(PNPLA6):c.2669G>A (p.Arg890His) http://identifiers.org/clinvar/6607 ^@ NM_001166113.1(PNPLA6):c.2944_2947dupAGCC (p.Arg983Glnfs) http://identifiers.org/clinvar/6608 ^@ NM_004086.2(COCH):c.197T>G (p.Val66Gly) http://identifiers.org/clinvar/6609 ^@ NM_004086.2(COCH):c.263G>A (p.Gly88Glu) http://identifiers.org/clinvar/6610 ^@ NM_004086.2(COCH):c.349T>C (p.Trp117Arg) http://identifiers.org/clinvar/6611 ^@ NM_004086.2(COCH):c.151C>T (p.Pro51Ser) http://identifiers.org/clinvar/6612 ^@ NM_004086.2(COCH):c.326T>A (p.Ile109Asn) http://identifiers.org/clinvar/6613 ^@ NM_004086.2(COCH):c.355G>A (p.Ala119Thr) http://identifiers.org/clinvar/6614 ^@ NM_004086.2(COCH):c.1625G>T (p.Cys542Phe) http://identifiers.org/clinvar/6615 ^@ NM_004086.2(COCH):c.1625G>A (p.Cys542Tyr) http://identifiers.org/clinvar/6616 ^@ NM_004086.2(COCH):c.1535T>C (p.Met512Thr) http://identifiers.org/clinvar/6617 ^@ NM_005589.3(ALDH6A1):c.1336G>A (p.Gly446Arg) http://identifiers.org/clinvar/6618 ^@ PEX3, 1-BP INS, 543T http://identifiers.org/clinvar/6619 ^@ PEX3, IVS10AS, T-G, -8 http://identifiers.org/clinvar/6620 ^@ PTPN14, 2,016-BP DEL http://identifiers.org/clinvar/6621 ^@ NM_181699.2(PPP2R1B):c.269G>A (p.Gly90Asp) http://identifiers.org/clinvar/6622 ^@ CPN1, 1-BP INS, 385G http://identifiers.org/clinvar/6623 ^@ NM_001308.2(CPN1):c.533G>A (p.Gly178Asp) http://identifiers.org/clinvar/6624 ^@ NM_006412.3(AGPAT2):c.202C>T (p.Arg68Ter) http://identifiers.org/clinvar/6625 ^@ NM_006412.3(AGPAT2):c.589-2A>G http://identifiers.org/clinvar/6626 ^@ NM_006412.3(AGPAT2):c.377dupT (p.Pro128Alafs) http://identifiers.org/clinvar/6627 ^@ NM_006412.3(AGPAT2):c.683T>C (p.Leu228Pro) http://identifiers.org/clinvar/6628 ^@ NM_006412.3(AGPAT2):c.418_420delTTC (p.Phe140del) http://identifiers.org/clinvar/6629 ^@ NM_006412.3(AGPAT2):c.643A>T (p.Lys215Ter) http://identifiers.org/clinvar/6630 ^@ NM_006412.3(AGPAT2):c.493-1G>C http://identifiers.org/clinvar/6631 ^@ NM_006412.3(AGPAT2):c.570C>A (p.Tyr190Ter) http://identifiers.org/clinvar/6632 ^@ NM_001012727.1(AGPAT2):c.366_492+910del1037 http://identifiers.org/clinvar/6633 ^@ B3GALT3, 202C-T http://identifiers.org/clinvar/6634 ^@ B3GALT3, 1-BP INS, 537A http://identifiers.org/clinvar/6635 ^@ NM_003781.3(B3GALNT1):c.811G>A (p.Gly271Arg) http://identifiers.org/clinvar/6636 ^@ NM_003781.3(B3GALNT1):c.797A>C (p.Glu266Ala) http://identifiers.org/clinvar/6637 ^@ NM_007129.3(ZIC2):c.177_178ins56 (p.?) http://identifiers.org/clinvar/6638 ^@ NM_007129.3(ZIC2):c.1318dupC (p.Leu440Profs) http://identifiers.org/clinvar/6639 ^@ NM_007129.3(ZIC2):c.1366_1368(15_45) http://identifiers.org/clinvar/6640 ^@ NM_007129.3(ZIC2):c.1040_1046delCCGAGAA (p.Glu348Serfs) http://identifiers.org/clinvar/6641 ^@ ZIC2, 2-BP DEL, 180AC http://identifiers.org/clinvar/6642 ^@ NM_198433.2(AURKA):c.91T>A (p.Phe31Ile) http://identifiers.org/clinvar/6643 ^@ NM_001084.4(PLOD3):c.668A>G (p.Asn223Ser) http://identifiers.org/clinvar/6644 ^@ NM_001084.4(PLOD3):c.2071delT (p.Cys691Alafs) http://identifiers.org/clinvar/6645 ^@ NM_003659.3(AGPS):c.1256G>A (p.Arg419His) http://identifiers.org/clinvar/6646 ^@ NM_003659.3(AGPS):c.926C>T (p.Thr309Ile) http://identifiers.org/clinvar/6647 ^@ NM_003659.3(AGPS):c.1406T>C (p.Leu469Pro) http://identifiers.org/clinvar/6648 ^@ COLQ, 215-BP DEL, NT107 http://identifiers.org/clinvar/6649 ^@ NM_005677.3(COLQ):c.640G>T (p.Glu214Ter) http://identifiers.org/clinvar/6650 ^@ NM_005677.3(COLQ):c.506C>G (p.Ser169Ter) http://identifiers.org/clinvar/6651 ^@ NM_005677.3(COLQ):c.844A>T (p.Arg282Ter) http://identifiers.org/clinvar/6652 ^@ NM_005677.3(COLQ):c.1082delC (p.Pro361Leufs) http://identifiers.org/clinvar/6653 ^@ NM_005677.3(COLQ):c.788dupC (p.Pro265Alafs) http://identifiers.org/clinvar/6654 ^@ NM_005677.3(COLQ):c.1289A>C (p.Tyr430Ser) http://identifiers.org/clinvar/6655 ^@ NM_005677.3(COLQ):c.943C>T (p.Arg315Ter) http://identifiers.org/clinvar/6656 ^@ COLQ, IVS16DS, A-G, +3 http://identifiers.org/clinvar/6657 ^@ NM_005677.3(COLQ):c.718G>T (p.Gly240Ter) http://identifiers.org/clinvar/6658 ^@ NM_003268.5(TLR5):c.1174C>T (p.Arg392Ter) http://identifiers.org/clinvar/6659 ^@ NM_003268.5(TLR5):c.1775A>G (p.Asn592Ser) http://identifiers.org/clinvar/6660 ^@ NM_138554.4(TLR4):c.896A>G (p.Asp299Gly) http://identifiers.org/clinvar/6661 ^@ NM_138554.4(TLR4):c.1196C>T (p.Thr399Ile) http://identifiers.org/clinvar/6662 ^@ NM_003265.2(TLR3):c.1660C>T (p.Pro554Ser) http://identifiers.org/clinvar/6663 ^@ NM_003264.4(TLR2):c.2029C>T (p.Arg677Trp) http://identifiers.org/clinvar/6664 ^@ TLR2, IVS2, GT(n) REPEAT POLYMORPHISM http://identifiers.org/clinvar/6665 ^@ NM_001130978.1(DYSF):c.1813C>T (p.Gln605Ter) http://identifiers.org/clinvar/6666 ^@ NM_003494.3(DYSF):c.5594delG (p.Gly1865Alafs) http://identifiers.org/clinvar/6667 ^@ NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) http://identifiers.org/clinvar/6668 ^@ NM_003494.3(DYSF):c.6124C>T (p.Arg2042Cys) http://identifiers.org/clinvar/6669 ^@ NM_003494.3(DYSF):c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) http://identifiers.org/clinvar/6670 ^@ NM_003494.3(DYSF):c.5039_5057+4dup23 http://identifiers.org/clinvar/6671 ^@ NM_001130978.1(DYSF):c.2372C>G (p.Pro791Arg) http://identifiers.org/clinvar/6672 ^@ NM_003494.3(DYSF):c.5057+5G>A http://identifiers.org/clinvar/6673 ^@ NM_001130978.1(DYSF):c.200_201delTGinsAT (p.Val67Asp) http://identifiers.org/clinvar/6674 ^@ NM_001130978.1(DYSF):c.2997G>T (p.Trp999Cys) http://identifiers.org/clinvar/6675 ^@ NM_001130978.1(DYSF):c.3137G>A (p.Arg1046His) http://identifiers.org/clinvar/6676 ^@ NM_001130978.1(DYSF):c.5776C>T (p.Arg1926Ter) http://identifiers.org/clinvar/6677 ^@ NM_001130978.1(DYSF):c.1873G>T (p.Asp625Tyr) http://identifiers.org/clinvar/6678 ^@ NM_001130978.1(DYSF):c.5264A>G (p.Glu1755Gly) http://identifiers.org/clinvar/6679 ^@ NM_003494.3(DYSF):c.1555G>A (p.Gly519Arg) http://identifiers.org/clinvar/6680 ^@ NM_003494.3(DYSF):c.3443-33A>G http://identifiers.org/clinvar/6681 ^@ NM_001130978.1(DYSF):c.895G>A (p.Gly299Arg) http://identifiers.org/clinvar/6682 ^@ NM_001130978.1(DYSF):c.895G>T (p.Gly299Trp) http://identifiers.org/clinvar/6683 ^@ NM_003494.3(DYSF):c.1285-2A>G http://identifiers.org/clinvar/6684 ^@ NM_003494.3(DYSF):c.855+1delG http://identifiers.org/clinvar/6685 ^@ NM_003494.3(DYSF):c.2779delG (p.Ala927Leufs) http://identifiers.org/clinvar/6686 ^@ NM_001015880.1(PAPSS2):c.1439C>A (p.Ser480Ter) http://identifiers.org/clinvar/3359 ^@ NM_006445.3(PRPF8):c.6912C>G (p.Phe2304Leu) http://identifiers.org/clinvar/3360 ^@ NM_001193301.1(SEMA4A):c.1033G>C (p.Asp345His) http://identifiers.org/clinvar/3361 ^@ NM_001193301.1(SEMA4A):c.1049T>G (p.Phe350Cys) http://identifiers.org/clinvar/3362 ^@ NM_022367.3(SEMA4A):c.2138G>A (p.Arg713Gln) http://identifiers.org/clinvar/3363 ^@ NM_144997.5(FLCN):c.1285dupC (p.His429Profs) http://identifiers.org/clinvar/3364 ^@ NM_144997.5(FLCN):c.1285delC (p.His429Thrfs) http://identifiers.org/clinvar/3367 ^@ NM_144997.5(FLCN):c.1389C>G (p.Tyr463Ter) http://identifiers.org/clinvar/3368 ^@ FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284AC http://identifiers.org/clinvar/3369 ^@ NM_144997.5(FLCN):c.236C>G (p.Ser79Trp) http://identifiers.org/clinvar/3370 ^@ NM_144997.5(FLCN):c.1333G>A (p.Ala445Thr) http://identifiers.org/clinvar/3371 ^@ NM_144997.5(FLCN):c.235_238delTCGG (p.Ser79Thrfs) http://identifiers.org/clinvar/3372 ^@ NM_144997.5(FLCN):c.1533_1536delGATG (p.Trp511Terfs) http://identifiers.org/clinvar/3373 ^@ NM_144997.5(FLCN):c.404delC (p.Pro135Leufs) http://identifiers.org/clinvar/3375 ^@ NM_144997.5(FLCN):c.1156_1175del20 (p.Ser386Aspfs) http://identifiers.org/clinvar/242814 ^@ NM_144997.5(FLCN):c.1301-7_1304delGTTACAGAGTT http://identifiers.org/clinvar/3378 ^@ FLCN, 2-BP DEL/2-BP INS, NT610 http://identifiers.org/clinvar/3379 ^@ NM_144997.5(FLCN):c.872-?_c.1740+?del http://identifiers.org/clinvar/3380 ^@ EVC2, 1-BP DEL, 3660C http://identifiers.org/clinvar/3381 ^@ EVC2, 5-BP INS, NT198 http://identifiers.org/clinvar/3382 ^@ EVC2, 1-BP INS, 2056C http://identifiers.org/clinvar/3383 ^@ NM_001166136.1(EVC2):c.955C>T (p.Arg319Ter) http://identifiers.org/clinvar/3384 ^@ NM_001166136.1(EVC2):c.1615C>T (p.Gln539Ter) http://identifiers.org/clinvar/3385 ^@ NM_001166136.1(EVC2):c.608T>G (p.Ile203Arg) http://identifiers.org/clinvar/3386 ^@ NM_001166136.1(EVC2):c.3025C>T (p.Gln1009Ter) http://identifiers.org/clinvar/3387 ^@ NM_001166136.1(EVC2):c.2608C>T (p.Arg870Trp) http://identifiers.org/clinvar/3388 ^@ NM_147127.4(EVC2):c.3793delC (p.Leu1265Tyrfs) http://identifiers.org/clinvar/3389 ^@ NM_147196.2(TMIE):c.122_125delCGCC (p.Pro41Leufs) http://identifiers.org/clinvar/3390 ^@ NM_147196.2(TMIE):c.241C>T (p.Arg81Cys) http://identifiers.org/clinvar/3391 ^@ NM_147196.2(TMIE):c.250C>T (p.Arg84Trp) http://identifiers.org/clinvar/3392 ^@ NM_147196.2(TMIE):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/3393 ^@ NM_147196.2(TMIE):c.94-2_98delAGCCCAGinsC http://identifiers.org/clinvar/3394 ^@ NM_147196.2(TMIE):c.170G>A (p.Trp57Ter) http://identifiers.org/clinvar/3395 ^@ IRF5, 5-BP INS, PROMOTER REGION http://identifiers.org/clinvar/3396 ^@ NM_001098629.2(IRF5):c.-12+198G>T http://identifiers.org/clinvar/3397 ^@ NM_001098629.2(IRF5):c.*555G>A http://identifiers.org/clinvar/3398 ^@ NM_001098629.2(IRF5):c.*128T>C http://identifiers.org/clinvar/3399 ^@ NM_015102.4(NPHP4):c.2368G>T (p.Glu790Ter) http://identifiers.org/clinvar/3400 ^@ NM_015102.4(NPHP4):c.2377C>T (p.Gln793Ter) http://identifiers.org/clinvar/3401 ^@ NM_015102.4(NPHP4):c.2044C>T (p.Arg682Ter) http://identifiers.org/clinvar/3402 ^@ NM_015102.4(NPHP4):c.2972T>C (p.Phe991Ser) http://identifiers.org/clinvar/3403 ^@ NPHP4, 1-BP DEL, 3272T http://identifiers.org/clinvar/3404 ^@ NM_015102.4(NPHP4):c.2335C>T (p.Gln779Ter) http://identifiers.org/clinvar/3405 ^@ NM_015102.4(NPHP4):c.1972C>T (p.Arg658Ter) http://identifiers.org/clinvar/3406 ^@ NM_052813.4(CARD9):c.883C>T (p.Gln295Ter) http://identifiers.org/clinvar/3407 ^@ NM_001165960.1(ALOXE3):c.1894G>T (p.Val632Phe) http://identifiers.org/clinvar/3408 ^@ NM_021628.2(ALOXE3):c.700C>T (p.Arg234Ter) http://identifiers.org/clinvar/3409 ^@ NM_001165960.1(ALOXE3):c.1582C>A (p.Arg528Ser) http://identifiers.org/clinvar/3410 ^@ NM_021628.2(ALOXE3):c.709T>A (p.Leu237Met) http://identifiers.org/clinvar/3411 ^@ NM_006147.3(IRF6):c.274G>T (p.Glu92Ter) http://identifiers.org/clinvar/3412 ^@ NM_006147.3(IRF6):c.870_888del19insA (p.Phe290_Asp296delinsLeu) http://identifiers.org/clinvar/3413 ^@ NM_006147.3(IRF6):c.1177C>T (p.Gln393Ter) http://identifiers.org/clinvar/3414 ^@ NM_006147.3(IRF6):c.250C>T (p.Arg84Cys) http://identifiers.org/clinvar/3415 ^@ NM_006147.3(IRF6):c.251G>A (p.Arg84His) http://identifiers.org/clinvar/3416 ^@ NM_006147.3(IRF6):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/3417 ^@ NM_006147.3(IRF6):c.16C>T (p.Arg6Cys) http://identifiers.org/clinvar/3418 ^@ NM_006147.3(IRF6):c.1137G>A (p.Trp379Ter) http://identifiers.org/clinvar/3419 ^@ NM_006147.3(IRF6):c.1198C>T (p.Arg400Trp) http://identifiers.org/clinvar/3420 ^@ NC_000001.11:g.209782473_209799634del17162 http://identifiers.org/clinvar/3421 ^@ NM_006147.3(IRF6):c.134G>A (p.Arg45Gln) http://identifiers.org/clinvar/3422 ^@ NM_006147.3(IRF6):c.1186C>T (p.Pro396Ser) http://identifiers.org/clinvar/3423 ^@ NM_006147.3(IRF6):c.1016G>T (p.Arg339Ile) http://identifiers.org/clinvar/3424 ^@ NM_018319.3(TDP1):c.1478A>G (p.His493Arg) http://identifiers.org/clinvar/3425 ^@ NM_178161.2(PTF1A):c.886C>T (p.Arg296Ter) http://identifiers.org/clinvar/3426 ^@ PTF1A, 1-BP INS, 705G http://identifiers.org/clinvar/3427 ^@ NM_001031717.3(CRELD1):c.985C>T (p.Arg329Cys) http://identifiers.org/clinvar/3428 ^@ NM_001031717.3(CRELD1):c.932C>T (p.Thr311Ile) http://identifiers.org/clinvar/3429 ^@ NM_001031717.3(CRELD1):c.320G>A (p.Arg107His) http://identifiers.org/clinvar/3430 ^@ NM_001031717.3(CRELD1):c.484C>G (p.Pro162Ala) http://identifiers.org/clinvar/3431 ^@ NM_001077415.2(CRELD1):c.1240G>A (p.Glu414Lys) http://identifiers.org/clinvar/3432 ^@ NM_032122.4(DTNBP1):c.307C>T (p.Gln103Ter) http://identifiers.org/clinvar/3433 ^@ NM_024105.3(ALG12):c.424T>G (p.Phe142Val) http://identifiers.org/clinvar/3434 ^@ NM_024105.3(ALG12):c.200C>T (p.Thr67Met) http://identifiers.org/clinvar/3435 ^@ NM_024105.3(ALG12):c.437G>A (p.Arg146Gln) http://identifiers.org/clinvar/3436 ^@ NM_024105.3(ALG12):c.301G>A (p.Gly101Arg) http://identifiers.org/clinvar/3437 ^@ NM_024105.3(ALG12):c.473T>C (p.Leu158Pro) http://identifiers.org/clinvar/3438 ^@ NM_024105.3(ALG12):c.1242C>G (p.Tyr414Ter) http://identifiers.org/clinvar/3439 ^@ NM_000135.2:c.1627_1900del274 http://identifiers.org/clinvar/3440 ^@ NM_000135.2(FANCA):c.1115_1118delTTGG (p.Val372Alafs) http://identifiers.org/clinvar/3441 ^@ FANCA, 156-BP DEL, NT1515 http://identifiers.org/clinvar/3442 ^@ NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs) http://identifiers.org/clinvar/3443 ^@ NM_000135.2(FANCA):c.1615delG (p.Asp539Thrfs) http://identifiers.org/clinvar/3444 ^@ NM_000135.2(FANCA):c.3558dupG (p.Arg1187Glufs) http://identifiers.org/clinvar/3445 ^@ NM_000135.2(FANCA):c.1007_3066del http://identifiers.org/clinvar/3446 ^@ NM_000135.2(FANCA):c.1606delT (p.Ser536Glnfs) http://identifiers.org/clinvar/3447 ^@ NM_000135.2(FANCA):c.513G>A (p.Trp171Ter) http://identifiers.org/clinvar/3448 ^@ NM_000135.2(FANCA):c.3720_3724delAAACA (p.Glu1240Aspfs) http://identifiers.org/clinvar/3449 ^@ NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) http://identifiers.org/clinvar/3450 ^@ NM_144773.3(PROKR2):c.629A>G (p.Gln210Arg) http://identifiers.org/clinvar/3451 ^@ NM_144773.3(PROKR2):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/3452 ^@ NM_144773.3(PROKR2):c.58delC (p.His20Metfs) http://identifiers.org/clinvar/3453 ^@ NM_144773.3(PROKR2):c.969G>A (p.Met323Ile) http://identifiers.org/clinvar/3454 ^@ NM_024596.4(MCPH1):c.74C>G (p.Ser25Ter) http://identifiers.org/clinvar/3455 ^@ NM_024596.4(MCPH1):c.427dupA (p.Thr143Asnfs) http://identifiers.org/clinvar/3456 ^@ NC_000008.11:g.(?_6406592)_(6439097_6442066)del http://identifiers.org/clinvar/3457 ^@ SPG20, 1-BP DEL, 1110A http://identifiers.org/clinvar/3458 ^@ SPG20, 2-BP DEL, 364AT http://identifiers.org/clinvar/3459 ^@ PAX6, 2-BP INS http://identifiers.org/clinvar/3460 ^@ PAX6, EXON G DEL http://identifiers.org/clinvar/3461 ^@ NM_000280.4(PAX6):c.406C>T (p.Gln136Ter) http://identifiers.org/clinvar/3462 ^@ NM_000280.4(PAX6):c.1058C>G (p.Ser353Ter) http://identifiers.org/clinvar/3463 ^@ NM_000280.4(PAX6):c.76C>G (p.Arg26Gly) http://identifiers.org/clinvar/3464 ^@ NM_000280.4(PAX6):c.307C>T (p.Arg103Ter) http://identifiers.org/clinvar/3465 ^@ NG_008679.1:g.32252G>C http://identifiers.org/clinvar/3466 ^@ NM_000280.4(PAX6):c.607C>T (p.Arg203Ter) http://identifiers.org/clinvar/3467 ^@ NM_000280.4(PAX6):c.718C>T (p.Arg240Ter) http://identifiers.org/clinvar/3468 ^@ NM_000280.4(PAX6):c.1033-2A>G http://identifiers.org/clinvar/3469 ^@ NM_000280.4(PAX6):c.917-2A>T http://identifiers.org/clinvar/3470 ^@ NM_000280.4(PAX6):c.382C>T (p.Arg128Cys) http://identifiers.org/clinvar/3471 ^@ NM_000280.4(PAX6):c.377T>A (p.Val126Asp) http://identifiers.org/clinvar/3472 ^@ NM_000280.4(PAX6):c.191G>T (p.Gly64Val) http://identifiers.org/clinvar/3473 ^@ NM_001604.5(PAX6):c.161T>A (p.Val54Asp) http://identifiers.org/clinvar/3474 ^@ NM_000280.4(PAX6):c.1268A>T (p.Ter423Leu) http://identifiers.org/clinvar/3475 ^@ NM_000280.4(PAX6):c.202C>T (p.Pro68Ser) http://identifiers.org/clinvar/3476 ^@ NM_000280.4(PAX6):c.613C>T (p.Gln205Ter) http://identifiers.org/clinvar/3477 ^@ NM_000280.4(PAX6):c.773T>C (p.Phe258Ser) http://identifiers.org/clinvar/3478 ^@ NM_000280.4(PAX6):c.1171A>G (p.Thr391Ala) http://identifiers.org/clinvar/3479 ^@ NM_000280.4(PAX6):c.10+5G>C http://identifiers.org/clinvar/3480 ^@ NM_000280.4(PAX6):c.725G>C (p.Arg242Thr) http://identifiers.org/clinvar/3481 ^@ NM_000280.4(PAX6):c.357C>A (p.Ser119Arg) http://identifiers.org/clinvar/3482 ^@ NM_000280.4(PAX6):c.-129+2T>A http://identifiers.org/clinvar/3483 ^@ NM_000280.4(PAX6):c.771G>A (p.Trp257Ter) http://identifiers.org/clinvar/3484 ^@ NM_001198551.1(WT1):c.242_258del17 (p.Asn81Ilefs) http://identifiers.org/clinvar/3485 ^@ NM_001198551.1(WT1):c.443delG (p.Gly148Valfs) http://identifiers.org/clinvar/3486 ^@ NM_001198551.1(WT1):c.787+15T>A http://identifiers.org/clinvar/3487 ^@ NM_024426.4(WT1):c.1384C>T (p.Arg462Trp) http://identifiers.org/clinvar/3488 ^@ NM_024426.4(WT1):c.1301G>A (p.Arg434His) http://identifiers.org/clinvar/3489 ^@ NM_024426.4(WT1):c.1391A>G (p.Asp464Gly) http://identifiers.org/clinvar/3490 ^@ NM_024426.4(WT1):c.1390G>A (p.Asp464Asn) http://identifiers.org/clinvar/3491 ^@ NM_024426.4(WT1):c.1385G>C (p.Arg462Pro) http://identifiers.org/clinvar/3492 ^@ NM_024426.4(WT1):c.1193G>A (p.Cys398Tyr) http://identifiers.org/clinvar/3493 ^@ NM_024426.4(WT1):c.1432+5G>A http://identifiers.org/clinvar/3494 ^@ NM_024426.4(WT1):c.1372C>T (p.Arg458Ter) http://identifiers.org/clinvar/3495 ^@ NM_024426.4(WT1):c.1333C>T (p.His445Tyr) http://identifiers.org/clinvar/3496 ^@ NM_024426.4(WT1):c.1282T>G (p.Cys428Gly) http://identifiers.org/clinvar/3497 ^@ NM_024426.4(WT1):c.1288C>T (p.Arg430Ter) http://identifiers.org/clinvar/3498 ^@ NM_024426.4(WT1):c.1323C>G (p.His441Gln) http://identifiers.org/clinvar/3499 ^@ NM_024426.4(WT1):c.1021A>G (p.Ser341Gly) http://identifiers.org/clinvar/3500 ^@ NM_024426.4(WT1):c.1432+4C>T http://identifiers.org/clinvar/3502 ^@ NM_024426.4(WT1):c.1351T>C (p.Phe451Leu) http://identifiers.org/clinvar/3504 ^@ NM_024426.4(WT1):c.1378T>C (p.Phe460Leu) http://identifiers.org/clinvar/3505 ^@ NM_024426.4(WT1):c.1300C>T (p.Arg434Cys) http://identifiers.org/clinvar/3506 ^@ NM_024426.4(WT1):c.531C>A (p.Tyr177Ter) http://identifiers.org/clinvar/3507 ^@ NPHP1, IVS18, G-T, +1 http://identifiers.org/clinvar/3508 ^@ NPHP1, IVS14, 1-BP DEL, G, +1 http://identifiers.org/clinvar/3509 ^@ NM_000272.3(NPHP1):c.80T>A (p.Leu27Ter) http://identifiers.org/clinvar/3510 ^@ NM_000272.3(NPHP1):c.1027G>A (p.Gly343Arg) http://identifiers.org/clinvar/3511 ^@ NPHP1, DEL http://identifiers.org/clinvar/3512 ^@ NM_144585.3(SLC22A12):c.774G>A (p.Trp258Ter) http://identifiers.org/clinvar/3513 ^@ NM_144585.3(SLC22A12):c.650C>T (p.Thr217Met) http://identifiers.org/clinvar/3514 ^@ NM_144585.3(SLC22A12):c.894G>T (p.Glu298Asp) http://identifiers.org/clinvar/3515 ^@ NM_144585.3(SLC22A12):c.1253T>G (p.Leu418Arg) http://identifiers.org/clinvar/3516 ^@ NM_144585.3(SLC22A12):c.269G>A (p.Arg90His) http://identifiers.org/clinvar/3517 ^@ NM_144585.3(SLC22A12):c.1082G>T (p.Gly361Val) http://identifiers.org/clinvar/3518 ^@ NM_005957.4(MTHFR):c.547C>T (p.Arg183Ter) http://identifiers.org/clinvar/3519 ^@ NM_005957.4(MTHFR):c.470G>A (p.Arg157Gln) http://identifiers.org/clinvar/3520 ^@ NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) http://identifiers.org/clinvar/3521 ^@ NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) http://identifiers.org/clinvar/3522 ^@ NM_005957.4(MTHFR):c.971A>G (p.Asn324Ser) http://identifiers.org/clinvar/3523 ^@ NM_005957.4(MTHFR):c.1015T>G (p.Trp339Gly) http://identifiers.org/clinvar/3524 ^@ MTHFR, 1084C-T http://identifiers.org/clinvar/3525 ^@ MTHFR, 1711C-T http://identifiers.org/clinvar/3526 ^@ MTHFR, 1081C-T http://identifiers.org/clinvar/3527 ^@ NM_005957.4(MTHFR):c.1743G>A (p.Met581Ile) http://identifiers.org/clinvar/3528 ^@ NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) http://identifiers.org/clinvar/3529 ^@ NM_005957.4(MTHFR):c.968T>C (p.Leu323Pro) http://identifiers.org/clinvar/3530 ^@ NM_153281.1(HYAL1):c.802G>A (p.Glu268Lys) http://identifiers.org/clinvar/3531 ^@ NM_153281.1(HYAL1):c.751_787del37insTTCCGTGTGGCCCG (p.Val251Phefs) http://identifiers.org/clinvar/3532 ^@ FKBP10, 33-BP DEL, NT321 http://identifiers.org/clinvar/3533 ^@ FKBP10, 1-BP DUP, 831C http://identifiers.org/clinvar/3534 ^@ SLC39A4, 5-BP DEL http://identifiers.org/clinvar/3535 ^@ SLC39A4, 4-BP DEL http://identifiers.org/clinvar/3536 ^@ SLC39A4, IVS1AS, G-A, -19 http://identifiers.org/clinvar/3537 ^@ NM_130849.3(SLC39A4):c.599C>T (p.Pro200Leu) http://identifiers.org/clinvar/3538 ^@ NM_130849.3(SLC39A4):c.1576G>A (p.Gly526Arg) http://identifiers.org/clinvar/3539 ^@ NM_130849.3(SLC39A4):c.1120G>A (p.Gly374Arg) http://identifiers.org/clinvar/3540 ^@ NM_130849.3(SLC39A4):c.318C>A (p.Asn106Lys) http://identifiers.org/clinvar/3541 ^@ SLC39A4, 2-KB DEL, UPSTREAM REGION http://identifiers.org/clinvar/3542 ^@ NM_130849.3(SLC39A4):c.989G>A (p.Gly330Asp) http://identifiers.org/clinvar/3543 ^@ SLC39A4, 53-BP INS, NT1017 http://identifiers.org/clinvar/3544 ^@ NM_130849.3(SLC39A4):c.283C>T (p.Arg95Cys) http://identifiers.org/clinvar/3545 ^@ NM_130849.3(SLC39A4):c.909G>C (p.Gln303His) http://identifiers.org/clinvar/3546 ^@ NM_016247.3(IMPG2):c.635C>G (p.Ser212Ter) http://identifiers.org/clinvar/3547 ^@ NM_016247.3(IMPG2):c.888-1554_908+274del http://identifiers.org/clinvar/3548 ^@ NM_016247.3(IMPG2):c.2716C>T (p.Arg906Ter) http://identifiers.org/clinvar/3549 ^@ NM_016247.3(IMPG2):c.2890C>T (p.Arg964Ter) http://identifiers.org/clinvar/3550 ^@ NM_016247.3(IMPG2):c.370T>C (p.Phe124Leu) http://identifiers.org/clinvar/3551 ^@ NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) http://identifiers.org/clinvar/3552 ^@ NM_001042432.1(CLN3):c.461-280_677+382del http://identifiers.org/clinvar/3553 ^@ CLN3, 3-KB DEL, NT928 http://identifiers.org/clinvar/3554 ^@ CLN3, 6-KB DEL http://identifiers.org/clinvar/3555 ^@ CLN3, IVSDS, G-C, +1/76-BP DEL http://identifiers.org/clinvar/3556 ^@ NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) http://identifiers.org/clinvar/3557 ^@ NM_001042432.1(CLN3):c.597C>A (p.Tyr199Ter) http://identifiers.org/clinvar/3558 ^@ NM_032583.3(ABCC11):c.538G>A (p.Gly180Arg) http://identifiers.org/clinvar/3559 ^@ NM_032583.3(ABCC11):c.3939_3965del27 (p.Asp1313_Arg1321del) http://identifiers.org/clinvar/3560 ^@ OTOA, IVS12DS, T-C, +2 http://identifiers.org/clinvar/3561 ^@ OTOA, 500-KB DEL http://identifiers.org/clinvar/3562 ^@ NM_002225.3(IVD):c.134T>C (p.Leu45Pro) http://identifiers.org/clinvar/3563 ^@ NM_002225.3(IVD):c.605G>T (p.Gly202Val) http://identifiers.org/clinvar/3564 ^@ IVD, 1-BP DEL, 1177T http://identifiers.org/clinvar/3565 ^@ IVD, 90-BP DEL, NT145 http://identifiers.org/clinvar/3566 ^@ IVD, IVS7AS, G-A, -1 http://identifiers.org/clinvar/3567 ^@ NM_002225.3(IVD):c.157C>T (p.Arg53Cys) http://identifiers.org/clinvar/100060 ^@ NM_002225.3(IVD):c.941C>T (p.Ala314Val) http://identifiers.org/clinvar/3569 ^@ NM_016169.3(SUFU):c.44C>T (p.Pro15Leu) http://identifiers.org/clinvar/3570 ^@ SUFU, 1-BP INS, 143A http://identifiers.org/clinvar/3571 ^@ NM_016169.3(SUFU):c.1022+1G>A http://identifiers.org/clinvar/3572 ^@ SUFU, 2.5-Mb DEL http://identifiers.org/clinvar/3573 ^@ NM_016169.3(SUFU):c.71delC (p.Pro24Argfs) http://identifiers.org/clinvar/3574 ^@ SUFU, 1-BP INS, 71C http://identifiers.org/clinvar/3575 ^@ NM_017662.4(TRPM6):c.1769C>G (p.Ser590Ter) http://identifiers.org/clinvar/3577 ^@ TRPM6, 1-BP DEL, 1280A http://identifiers.org/clinvar/3578 ^@ TRPM6, 13-BP DEL, NT3779 http://identifiers.org/clinvar/3579 ^@ TRPM6, 1-BP DEL, 2207G http://identifiers.org/clinvar/3580 ^@ TRPM6, IVS16DS, G-A, +1 http://identifiers.org/clinvar/3581 ^@ NM_017662.4(TRPM6):c.1420C>T (p.Arg474Ter) http://identifiers.org/clinvar/3582 ^@ NM_017662.4(TRPM6):c.166C>T (p.Arg56Ter) http://identifiers.org/clinvar/3583 ^@ TRPM6, IVS8DS, G-C, +5 http://identifiers.org/clinvar/3584 ^@ TRPM6, IVS23AS, A-G, -68 http://identifiers.org/clinvar/3585 ^@ NM_017662.4(TRPM6):c.422C>T (p.Ser141Leu) http://identifiers.org/clinvar/3586 ^@ NM_001127328.2(ACADM):c.997A>G (p.Lys333Glu) http://identifiers.org/clinvar/3587 ^@ NM_000016.5(ACADM):c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) http://identifiers.org/clinvar/3588 ^@ NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) http://identifiers.org/clinvar/3589 ^@ NM_000016.5(ACADM):c.1124T>C (p.Ile375Thr) http://identifiers.org/clinvar/3590 ^@ NM_000016.5(ACADM):c.730T>C (p.Cys244Arg) http://identifiers.org/clinvar/3591 ^@ NM_000016.5(ACADM):c.447G>A (p.Met149Ile) http://identifiers.org/clinvar/3592 ^@ NM_000016.5(ACADM):c.1102_1105delTTAG (p.Ala369Leufs) http://identifiers.org/clinvar/3593 ^@ NM_000016.5(ACADM):c.343_348delGGATGT (p.Gly115_Cys116del) http://identifiers.org/clinvar/3594 ^@ NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) http://identifiers.org/clinvar/3595 ^@ NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) http://identifiers.org/clinvar/3596 ^@ NM_000016.5(ACADM):c.842G>C (p.Arg281Thr) http://identifiers.org/clinvar/3597 ^@ NM_000016.5(ACADM):c.199T>C (p.Tyr67His) http://identifiers.org/clinvar/3598 ^@ NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) http://identifiers.org/clinvar/3599 ^@ NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) http://identifiers.org/clinvar/3601 ^@ NM_001126128.1(PROK2):c.94G>C (p.Gly32Arg) http://identifiers.org/clinvar/3602 ^@ PROK2, 1-BP INS, 234T http://identifiers.org/clinvar/3603 ^@ NM_001126128.1(PROK2):c.163delA (p.Ile55Terfs) http://identifiers.org/clinvar/3604 ^@ NM_001126128.1(PROK2):c.217C>T (p.Arg73Cys) http://identifiers.org/clinvar/3605 ^@ NM_024757.4(EHMT1):c.3502C>T (p.Arg1168Ter) http://identifiers.org/clinvar/3606 ^@ NM_024757.4(EHMT1):c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs) http://identifiers.org/clinvar/3607 ^@ NM_024757.4(EHMT1):c.3218G>A (p.Cys1073Tyr) http://identifiers.org/clinvar/3608 ^@ NM_024757.4(EHMT1):c.871C>T (p.Arg291Ter) http://identifiers.org/clinvar/3609 ^@ NM_000155.3(GALT):c.425T>A (p.Met142Lys) http://identifiers.org/clinvar/3610 ^@ NM_000155.3(GALT):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/3611 ^@ NM_000155.3(GALT):c.130G>A (p.Val44Met) http://identifiers.org/clinvar/3612 ^@ NM_000155.3(GALT):c.184C>A (p.Leu62Met) http://identifiers.org/clinvar/3613 ^@ NM_000155.3(GALT):c.940A>G (p.Asn314Asp) http://identifiers.org/clinvar/3614 ^@ NM_000155.3(GALT):c.563A>G (p.Gln188Arg) http://identifiers.org/clinvar/3615 ^@ NM_000155.3(GALT):c.221T>C (p.Leu74Pro) http://identifiers.org/clinvar/3616 ^@ NM_000155.3(GALT):c.512T>C (p.Phe171Ser) http://identifiers.org/clinvar/3617 ^@ NM_000155.3(GALT):c.957C>A (p.His319Gln) http://identifiers.org/clinvar/3618 ^@ NM_000155.3(GALT):c.404C>T (p.Ser135Leu) http://identifiers.org/clinvar/3619 ^@ NM_000155.3(GALT):c.547C>A (p.Pro183Thr) http://identifiers.org/clinvar/39372 ^@ NM_000155.3(GALT):c.652C>T (p.Leu218=) http://identifiers.org/clinvar/3621 ^@ NM_000155.3(GALT):c.855G>T (p.Lys285Asn) http://identifiers.org/clinvar/3622 ^@ NM_000155.3(GALT):c.607G>A (p.Glu203Lys) http://identifiers.org/clinvar/3623 ^@ NM_000155.3(GALT):c.997C>G (p.Arg333Gly) http://identifiers.org/clinvar/3624 ^@ NM_000155.3(GALT):c.580T>C (p.Phe194Leu) http://identifiers.org/clinvar/3626 ^@ NM_000250.1(MPO):c.1705C>T (p.Arg569Trp) http://identifiers.org/clinvar/3627 ^@ NM_000250.1(MPO):c.518A>G (p.Tyr173Cys) http://identifiers.org/clinvar/3628 ^@ NM_000250.1(MPO):c.752T>C (p.Met251Thr) http://identifiers.org/clinvar/3629 ^@ NM_000250.1(MPO):c.1555_1568delATGGAACCCAACCC (p.Met519Profs) http://identifiers.org/clinvar/3630 ^@ NM_000250.1(MPO):c.995C>T (p.Ala332Val) http://identifiers.org/clinvar/3631 ^@ NM_000250.1(MPO):c.1715T>G (p.Leu572Trp) http://identifiers.org/clinvar/3632 ^@ NM_000250.1(MPO):c.2031-2A>C http://identifiers.org/clinvar/3633 ^@ MPO, -463G-A http://identifiers.org/clinvar/3634 ^@ NM_000250.1(MPO):c.1501G>A (p.Gly501Ser) http://identifiers.org/clinvar/3635 ^@ NM_000250.1(MPO):c.1495C>T (p.Arg499Cys) http://identifiers.org/clinvar/3636 ^@ NM_020247.4(COQ8A):c.1651G>A (p.Glu551Lys) http://identifiers.org/clinvar/3637 ^@ NM_020247.4(COQ8A):c.637C>T (p.Arg213Trp) http://identifiers.org/clinvar/3638 ^@ NM_020247.4(COQ8A):c.815G>T (p.Gly272Val) http://identifiers.org/clinvar/3639 ^@ NM_020247.4(COQ8A):c.815G>A (p.Gly272Asp) http://identifiers.org/clinvar/3640 ^@ NM_020247.4(COQ8A):c.1813dupG (p.Glu605Glyfs) http://identifiers.org/clinvar/3641 ^@ NM_020247.4(COQ8A):c.1398+2T>C http://identifiers.org/clinvar/3642 ^@ NM_020247.4(COQ8A):c.500_521del22insTTG (p.Gln167Leufs) http://identifiers.org/clinvar/3643 ^@ NM_020247.4(COQ8A):c.1541A>G (p.Tyr514Cys) http://identifiers.org/clinvar/3644 ^@ NM_020247.4(COQ8A):c.1750_1752delACC (p.Thr584del) http://identifiers.org/clinvar/3645 ^@ NM_020247.4(COQ8A):c.993C>T (p.Phe331=) http://identifiers.org/clinvar/3646 ^@ NM_020247.4(COQ8A):c.1645G>A (p.Gly549Ser) http://identifiers.org/clinvar/3647 ^@ NM_032382.4(COG8):c.1611C>G (p.Tyr537Ter) http://identifiers.org/clinvar/3648 ^@ COG8, IVS3, G-A, +3 http://identifiers.org/clinvar/3649 ^@ COG8, 2-BP DEL, 1687TT http://identifiers.org/clinvar/3650 ^@ COG7, IVS1DS, A-C, +4 http://identifiers.org/clinvar/3651 ^@ COG7, IVS1AS, A-G, -7 http://identifiers.org/clinvar/3652 ^@ NM_015386.2(COG4):c.2197C>T (p.Arg733Trp) http://identifiers.org/clinvar/3653 ^@ COG4, 400-KB DEL http://identifiers.org/clinvar/3654 ^@ COG1, 1-BP INS, 2659C http://identifiers.org/clinvar/3655 ^@ COG1, IVS6DS, G-A, +5 http://identifiers.org/clinvar/3656 ^@ NM_000229.1(LCAT):c.508T>C (p.Trp170Arg) http://identifiers.org/clinvar/3657 ^@ NM_000229.1(LCAT):c.951G>A (p.Met317Ile) http://identifiers.org/clinvar/3658 ^@ NM_000229.1(LCAT):c.492_493insGGC (p.Arg164_Ala165insGly) http://identifiers.org/clinvar/3659 ^@ NM_000229.1(LCAT):c.756C>A (p.Asn252Lys) http://identifiers.org/clinvar/3660 ^@ NM_000229.1(LCAT):c.440C>T (p.Thr147Ile) http://identifiers.org/clinvar/3661 ^@ LCAT, 1-BP INS, EX1 http://identifiers.org/clinvar/3662 ^@ NM_000229.1(LCAT):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/3664 ^@ NM_000229.1(LCAT):c.1112C>T (p.Thr371Met) http://identifiers.org/clinvar/3665 ^@ NM_000229.1(LCAT):c.827T>A (p.Met276Lys) http://identifiers.org/clinvar/3666 ^@ NM_000229.1(LCAT):c.698T>C (p.Leu233Pro) http://identifiers.org/clinvar/242813 ^@ NM_000229.1(LCAT):c.349G>A (p.Ala117Thr) http://identifiers.org/clinvar/3668 ^@ NM_000229.1(LCAT):c.475C>T (p.Arg159Trp) http://identifiers.org/clinvar/3669 ^@ NM_000229.1(LCAT):c.1197dupA (p.Gln400Thrfs) http://identifiers.org/clinvar/3670 ^@ NM_000229.1(LCAT):c.1034C>T (p.Thr345Met) http://identifiers.org/clinvar/3671 ^@ NM_000229.1(LCAT):c.321C>A (p.Tyr107Ter) http://identifiers.org/clinvar/3672 ^@ NM_000229.1(LCAT):c.970_972delCTC (p.Leu325del) http://identifiers.org/clinvar/3673 ^@ NM_000229.1(LCAT):c.463A>G (p.Asn155Asp) http://identifiers.org/clinvar/3674 ^@ NM_000229.1(LCAT):c.524-22T>C http://identifiers.org/clinvar/3675 ^@ NM_000403.3(GALE):c.548T>C (p.Leu183Pro) http://identifiers.org/clinvar/3676 ^@ NM_000403.3(GALE):c.101A>G (p.Asn34Ser) http://identifiers.org/clinvar/3677 ^@ NM_000403.3(GALE):c.269G>A (p.Gly90Glu) http://identifiers.org/clinvar/3678 ^@ NM_001008216.1(GALE):c.308A>G (p.Asp103Gly) http://identifiers.org/clinvar/3679 ^@ NM_000403.3(GALE):c.770A>G (p.Lys257Arg) http://identifiers.org/clinvar/3680 ^@ NM_001008216.1(GALE):c.937C>A (p.Leu313Met) http://identifiers.org/clinvar/3681 ^@ NM_000403.3(GALE):c.956G>A (p.Gly319Glu) http://identifiers.org/clinvar/3682 ^@ NM_000403.3(GALE):c.280G>A (p.Val94Met) http://identifiers.org/clinvar/3683 ^@ NM_000527.4(LDLR):c.97C>T (p.Gln33Ter) http://identifiers.org/clinvar/3685 ^@ NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) http://identifiers.org/clinvar/3686 ^@ NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) http://identifiers.org/clinvar/3688 ^@ NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) http://identifiers.org/clinvar/3689 ^@ NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) http://identifiers.org/clinvar/3690 ^@ NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) http://identifiers.org/clinvar/3691 ^@ NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/3692 ^@ NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) http://identifiers.org/clinvar/3693 ^@ FH Nashville http://identifiers.org/clinvar/3694 ^@ NM_000527.4(LDLR):c.1285G>A (p.Val429Met) http://identifiers.org/clinvar/3695 ^@ NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) http://identifiers.org/clinvar/3696 ^@ NM_000527.4(LDLR):c.1567G>A (p.Val523Met) http://identifiers.org/clinvar/3697 ^@ NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) http://identifiers.org/clinvar/3698 ^@ NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) http://identifiers.org/clinvar/3699 ^@ NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) http://identifiers.org/clinvar/3700 ^@ FH Paris 1 http://identifiers.org/clinvar/3701 ^@ FH Cape Town 2 http://identifiers.org/clinvar/3702 ^@ NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) http://identifiers.org/clinvar/3703 ^@ NM_000527.4(LDLR):c.2439G>A (p.Trp813Ter) http://identifiers.org/clinvar/3704 ^@ NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys) http://identifiers.org/clinvar/3705 ^@ NM_000527.4(LDLR):c.2447_2450dupAGAA (p.Asn817Lysfs) http://identifiers.org/clinvar/3706 ^@ NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) http://identifiers.org/clinvar/3707 ^@ LDLR, EX2-8DUP http://identifiers.org/clinvar/3708 ^@ FH Paris 2 http://identifiers.org/clinvar/3709 ^@ NC_000019.10:g.(11077742_11077775)_(11093595_11093630)del http://identifiers.org/clinvar/3710 ^@ FH French Canadian 5 http://identifiers.org/clinvar/3711 ^@ NG_009060.1:g.39215_47749del8535 http://identifiers.org/clinvar/3712 ^@ FH Vancouver 4 http://identifiers.org/clinvar/3713 ^@ FH Vancouver 3 http://identifiers.org/clinvar/3714 ^@ FH London 1 http://identifiers.org/clinvar/3715 ^@ FH London 2 http://identifiers.org/clinvar/3716 ^@ FH Osaka 2 http://identifiers.org/clinvar/3717 ^@ FH Vancouver 2 http://identifiers.org/clinvar/3718 ^@ FH Vancouver 6 http://identifiers.org/clinvar/3719 ^@ FH Reykjavik http://identifiers.org/clinvar/3720 ^@ FH Tonami 1 http://identifiers.org/clinvar/3721 ^@ FH Tsukuba 2 http://identifiers.org/clinvar/3722 ^@ LDLR, EX17-18DEL http://identifiers.org/clinvar/3723 ^@ FH Leiden 3 http://identifiers.org/clinvar/3724 ^@ NM_000527.4(LDLR):c.1891_2311+1062del (p.(?)) http://identifiers.org/clinvar/3725 ^@ FH Bologna 2 http://identifiers.org/clinvar/3726 ^@ NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) http://identifiers.org/clinvar/3727 ^@ NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) http://identifiers.org/clinvar/3728 ^@ FH Pavia http://identifiers.org/clinvar/3729 ^@ NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) http://identifiers.org/clinvar/3730 ^@ NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) http://identifiers.org/clinvar/3731 ^@ NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) http://identifiers.org/clinvar/3732 ^@ NM_000527.4(LDLR):c.1297G>C (p.Asp433His) http://identifiers.org/clinvar/3733 ^@ NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) http://identifiers.org/clinvar/3734 ^@ NM_000527.4(LDLR):c.2531G>A (p.Gly844Asp) http://identifiers.org/clinvar/3735 ^@ NM_000527.4(LDLR):c.1202T>A (p.Leu401His) http://identifiers.org/clinvar/3736 ^@ NM_000527.4(LDLR):c.313+1G>A http://identifiers.org/clinvar/226365 ^@ NM_000527.4(LDLR):c.1690A>C (p.Asn564His) http://identifiers.org/clinvar/3738 ^@ NM_000527.4(LDLR):c.694+2T>C http://identifiers.org/clinvar/3739 ^@ NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) http://identifiers.org/clinvar/3740 ^@ NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) http://identifiers.org/clinvar/3741 ^@ NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) http://identifiers.org/clinvar/3742 ^@ NM_000527.4(LDLR):c.137G>C (p.Cys46Ser) http://identifiers.org/clinvar/3743 ^@ NM_000527.4(LDLR):c.326G>C (p.Cys109Ser) http://identifiers.org/clinvar/3744 ^@ NM_000527.4(LDLR):c.2140+1G>A http://identifiers.org/clinvar/3745 ^@ NM_000527.4(LDLR):c.-138delT http://identifiers.org/clinvar/3746 ^@ NM_000527.4(LDLR):c.1216C>A (p.Arg406=) http://identifiers.org/clinvar/3747 ^@ NM_000527.4(LDLR):c.621C>T (p.Gly207=) http://identifiers.org/clinvar/3748 ^@ NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) http://identifiers.org/clinvar/3749 ^@ NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) http://identifiers.org/clinvar/3750 ^@ NM_000375.2(UROS):c.217T>C (p.Cys73Arg) http://identifiers.org/clinvar/3751 ^@ NM_000375.2(UROS):c.158C>T (p.Pro53Leu) http://identifiers.org/clinvar/3752 ^@ NM_000375.2(UROS):c.197C>T (p.Ala66Val) http://identifiers.org/clinvar/3753 ^@ NM_000375.2(UROS):c.184A>G (p.Thr62Ala) http://identifiers.org/clinvar/3754 ^@ NM_000375.2(UROS):c.683C>T (p.Thr228Met) http://identifiers.org/clinvar/3755 ^@ NM_000375.2(UROS):c.10C>T (p.Leu4Phe) http://identifiers.org/clinvar/3756 ^@ NM_000375.2(UROS):c.148_244del (p.Leu50Serfs) http://identifiers.org/clinvar/3757 ^@ UROS, 80-BP INS http://identifiers.org/clinvar/3758 ^@ NM_000375.2(UROS):c.244G>T (p.Val82Phe) http://identifiers.org/clinvar/3759 ^@ NM_000375.2(UROS):c.562G>A (p.Gly188Arg) http://identifiers.org/clinvar/3760 ^@ NM_000375.2(UROS):c.243A>T (p.Glu81Asp) http://identifiers.org/clinvar/3761 ^@ NM_000375.2(UROS):c.562G>T (p.Gly188Trp) http://identifiers.org/clinvar/3762 ^@ NM_000375.2(UROS):c.-26-177T>C http://identifiers.org/clinvar/3763 ^@ NM_000375.2(UROS):c.-26-183G>A http://identifiers.org/clinvar/3764 ^@ NM_000375.2(UROS):c.-26-193C>A http://identifiers.org/clinvar/3765 ^@ NM_000375.2(UROS):c.-26-197C>A http://identifiers.org/clinvar/3766 ^@ NM_000375.2(UROS):c.673G>A (p.Gly225Ser) http://identifiers.org/clinvar/3767 ^@ NM_000375.2(UROS):c.1_63del http://identifiers.org/clinvar/3768 ^@ NM_000375.2(UROS):c.397dupG (p.Glu133Glyfs) http://identifiers.org/clinvar/3769 ^@ NM_000375.2(UROS):c.743C>A (p.Pro248Gln) http://identifiers.org/clinvar/3770 ^@ NM_017636.3(TRPM4):c.19G>A (p.Glu7Lys) http://identifiers.org/clinvar/3771 ^@ NM_000372.4(TYR):c.929dupC (p.Arg311Lysfs) http://identifiers.org/clinvar/3772 ^@ NM_000372.4(TYR):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/3773 ^@ NM_000372.4(TYR):c.823G>T (p.Val275Phe) http://identifiers.org/clinvar/3774 ^@ NM_000372.4(TYR):c.1118C>A (p.Thr373Lys) http://identifiers.org/clinvar/3775 ^@ NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) http://identifiers.org/clinvar/3776 ^@ NM_000372.4(TYR):c.230G>A (p.Arg77Gln) http://identifiers.org/clinvar/3777 ^@ NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) http://identifiers.org/clinvar/3778 ^@ NM_000372.4(TYR):c.575C>A (p.Ser192Tyr) http://identifiers.org/clinvar/3779 ^@ NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) http://identifiers.org/clinvar/3781 ^@ NM_000372.4(TYR):c.265T>C (p.Cys89Arg) http://identifiers.org/clinvar/3782 ^@ NM_000372.4(TYR):c.1265G>A (p.Arg422Gln) http://identifiers.org/clinvar/3783 ^@ NM_000372.4(TYR):c.-199C>A http://identifiers.org/clinvar/3784 ^@ NM_000372.4(TYR):c.533G>A (p.Trp178Ter) http://identifiers.org/clinvar/3786 ^@ NM_000372.4(TYR):c.1146C>A (p.Asn382Lys) http://identifiers.org/clinvar/3787 ^@ NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) http://identifiers.org/clinvar/3788 ^@ NM_000372.4(TYR):c.286dupA (p.Met96fs) http://identifiers.org/clinvar/3789 ^@ NM_000372.4(TYR):c.125A>G (p.Asp42Gly) http://identifiers.org/clinvar/3790 ^@ NM_000372.4(TYR):c.164G>A (p.Cys55Tyr) http://identifiers.org/clinvar/3791 ^@ NM_000372.4(TYR):c.616G>A (p.Ala206Thr) http://identifiers.org/clinvar/3792 ^@ NM_000372.4(TYR):c.1255G>A (p.Gly419Arg) http://identifiers.org/clinvar/3793 ^@ NM_000372.4(TYR):c.61C>T (p.Pro21Ser) http://identifiers.org/clinvar/3794 ^@ NM_000372.4(TYR):c.140G>A (p.Gly47Asp) http://identifiers.org/clinvar/3795 ^@ NM_000372.4(TYR):c.649C>T (p.Arg217Trp) http://identifiers.org/clinvar/3796 ^@ NM_000372.4(TYR):c.896G>A (p.Arg299His) http://identifiers.org/clinvar/3798 ^@ NM_000372.4(TYR):c.1112A>C (p.Asn371Thr) http://identifiers.org/clinvar/3799 ^@ NM_000372.4(TYR):c.1164delT (p.His389Thrfs) http://identifiers.org/clinvar/3800 ^@ NM_000372.4(TYR):c.1209G>T (p.Arg403Ser) http://identifiers.org/clinvar/3801 ^@ NM_000372.4(TYR):c.1336G>A (p.Gly446Ser) http://identifiers.org/clinvar/3802 ^@ NM_000372.4(TYR):c.1342G>A (p.Asp448Asn) http://identifiers.org/clinvar/3803 ^@ NM_000372.4(TYR):c.1467dupT (p.Ala490Cysfs) http://identifiers.org/clinvar/3804 ^@ NM_000372.4(TYR):c.1501dupC (p.Arg501Profs) http://identifiers.org/clinvar/3805 ^@ NM_000372.4(TYR):c.707G>A (p.Trp236Ter) http://identifiers.org/clinvar/3806 ^@ NM_000372.4(TYR):c.646T>A (p.Leu216Met) http://identifiers.org/clinvar/3807 ^@ NM_000372.4(TYR):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/3808 ^@ NM_000081.3(LYST):c.1467delG (p.Glu489Aspfs) http://identifiers.org/clinvar/3809 ^@ NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) http://identifiers.org/clinvar/3810 ^@ NM_000081.3(LYST):c.118dupG (p.Ala40Glyfs) http://identifiers.org/clinvar/3811 ^@ NM_000081.3(LYST):c.1902dupA (p.Ala635Serfs) http://identifiers.org/clinvar/3812 ^@ NM_000081.3(LYST):c.9590delA (p.Tyr3197Leufs) http://identifiers.org/clinvar/3813 ^@ NM_000081.3(LYST):c.148C>T (p.Arg50Ter) http://identifiers.org/clinvar/3814 ^@ NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter) http://identifiers.org/clinvar/3815 ^@ NM_000081.3(LYST):c.2623delT (p.Tyr875Metfs) http://identifiers.org/clinvar/3816 ^@ NM_000081.3(LYST):c.4688G>A (p.Arg1563His) http://identifiers.org/clinvar/3817 ^@ NM_000081.3(LYST):c.5996T>A (p.Val1999Asp) http://identifiers.org/clinvar/3818 ^@ NM_000153.3(GALC):c.1153G>T (p.Glu385Ter) http://identifiers.org/clinvar/3819 ^@ GALC, 30-KB DEL, IVS10 http://identifiers.org/clinvar/3820 ^@ NM_000456.2(SUOX):c.650G>A (p.Arg217Gln) http://identifiers.org/clinvar/3821 ^@ NM_000456.2(SUOX):c.794C>A (p.Ala265Asp) http://identifiers.org/clinvar/3822 ^@ SUOX, SER370TYR http://identifiers.org/clinvar/3823 ^@ NM_000456.2(SUOX):c.1589G>A (p.Gly530Asp) http://identifiers.org/clinvar/3824 ^@ SUOX, 1-BP DEL, 1244G http://identifiers.org/clinvar/3825 ^@ NM_000017.3(ACADS):c.136C>T (p.Arg46Trp) http://identifiers.org/clinvar/3826 ^@ NM_000017.3(ACADS):c.319C>T (p.Arg107Cys) http://identifiers.org/clinvar/3827 ^@ NM_000017.3(ACADS):c.274G>T (p.Gly92Cys) http://identifiers.org/clinvar/3828 ^@ NM_000017.3(ACADS):c.529T>C (p.Trp177Arg) http://identifiers.org/clinvar/3829 ^@ NM_000017.3(ACADS):c.1147C>T (p.Arg383Cys) http://identifiers.org/clinvar/3830 ^@ NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) http://identifiers.org/clinvar/3831 ^@ NM_000017.3(ACADS):c.625G>A (p.Gly209Ser) http://identifiers.org/clinvar/3832 ^@ NM_000017.3(ACADS):c.268G>A (p.Gly90Ser) http://identifiers.org/clinvar/3833 ^@ NM_000017.3(ACADS):c.310_312delGAG (p.Glu104del) http://identifiers.org/clinvar/3834 ^@ NM_000017.3(ACADS):c.575C>T (p.Ala192Val) http://identifiers.org/clinvar/3835 ^@ NM_000017.3(ACADS):c.973C>T (p.Arg325Trp) http://identifiers.org/clinvar/3836 ^@ NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu) http://identifiers.org/clinvar/3837 ^@ NM_000017.3(ACADS):c.1138C>T (p.Arg380Trp) http://identifiers.org/clinvar/3838 ^@ IRAK4, 1-BP DEL, 821T http://identifiers.org/clinvar/3839 ^@ NM_016123.3(IRAK4):c.877C>T (p.Gln293Ter) http://identifiers.org/clinvar/3840 ^@ IRAK4, 2-BP DEL, 620AC http://identifiers.org/clinvar/3841 ^@ IRAK4, IVS10, G-T, -1 http://identifiers.org/clinvar/3842 ^@ IRAK4, IVS10 +520A-G http://identifiers.org/clinvar/3843 ^@ ATP7B, 7-BP DEL, NT2010 http://identifiers.org/clinvar/3846 ^@ ATP7B, 1-BP DEL, 2337C http://identifiers.org/clinvar/3847 ^@ ATP7B, 1-BP INS, NT2487 http://identifiers.org/clinvar/3848 ^@ NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) http://identifiers.org/clinvar/3849 ^@ NM_000053.3(ATP7B):c.3796G>A (p.Gly1266Arg) http://identifiers.org/clinvar/3850 ^@ NM_000053.3(ATP7B):c.1708-1G>C http://identifiers.org/clinvar/3851 ^@ NM_000053.3(ATP7B):c.2621C>T (p.Ala874Val) http://identifiers.org/clinvar/3852 ^@ NM_000053.3(ATP7B):c.2333G>T (p.Arg778Leu) http://identifiers.org/clinvar/3853 ^@ ATP7B, 15-BP DEL, NT-441 http://identifiers.org/clinvar/3854 ^@ ATP7B, 3-BP DEL, 3892GTC http://identifiers.org/clinvar/3855 ^@ NM_000053.3(ATP7B):c.2293G>A (p.Asp765Asn) http://identifiers.org/clinvar/3856 ^@ NM_000053.3(ATP7B):c.2827G>A (p.Gly943Ser) http://identifiers.org/clinvar/3857 ^@ NM_000053.3(ATP7B):c.2755C>G (p.Arg919Gly) http://identifiers.org/clinvar/3858 ^@ ATP7B, 1-BP DEL, 2511A http://identifiers.org/clinvar/3859 ^@ NM_000053.3(ATP7B):c.3809A>G (p.Asn1270Ser) http://identifiers.org/clinvar/3860 ^@ NM_000053.3(ATP7B):c.2906G>A (p.Arg969Gln) http://identifiers.org/clinvar/3861 ^@ NM_000053.3(ATP7B):c.2297C>G (p.Thr766Arg) http://identifiers.org/clinvar/3862 ^@ NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) http://identifiers.org/clinvar/37122 ^@ NM_000053.3(ATP7B):c.3443T>C (p.Ile1148Thr) http://identifiers.org/clinvar/3864 ^@ NM_000053.3(ATP7B):c.865C>T (p.Gln289Ter) http://identifiers.org/clinvar/3865 ^@ NM_000053.3(ATP7B):c.2123T>C (p.Leu708Pro) http://identifiers.org/clinvar/3866 ^@ NM_000053.3(ATP7B):c.2071G>A (p.Gly691Arg) http://identifiers.org/clinvar/3867 ^@ NM_006623.3(PHGDH):c.1468G>A (p.Val490Met) http://identifiers.org/clinvar/3868 ^@ NM_006623.3(PHGDH):c.1273G>A (p.Val425Met) http://identifiers.org/clinvar/3869 ^@ NM_006623.3(PHGDH):c.714delG (p.Ile239Serfs) http://identifiers.org/clinvar/3870 ^@ NM_006623.3(PHGDH):c.403C>T (p.Arg135Trp) http://identifiers.org/clinvar/3871 ^@ NM_006623.3(PHGDH):c.1129G>A (p.Gly377Ser) http://identifiers.org/clinvar/3872 ^@ NM_006623.3(PHGDH):c.781G>A (p.Val261Met) http://identifiers.org/clinvar/3873 ^@ nsv513799 http://identifiers.org/clinvar/3874 ^@ NM_000521.3(HEXB):c.362A>G (p.Lys121Arg) http://identifiers.org/clinvar/3875 ^@ HEXB, 24-BP INS http://identifiers.org/clinvar/3876 ^@ HEXB, 18-BP INS http://identifiers.org/clinvar/3877 ^@ NM_000521.3(HEXB):c.1367A>C (p.Tyr456Ser) http://identifiers.org/clinvar/3878 ^@ NM_000521.3(HEXB):c.1250C>T (p.Pro417Leu) http://identifiers.org/clinvar/3879 ^@ NM_000521.3(HEXB):c.1514G>A (p.Arg505Gln) http://identifiers.org/clinvar/3881 ^@ NM_000521.3(HEXB):c.1627G>A (p.Ala543Thr) http://identifiers.org/clinvar/3882 ^@ NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) http://identifiers.org/clinvar/3883 ^@ HEXB, PARTIAL DEL http://identifiers.org/clinvar/3884 ^@ NM_000521.3(HEXB):c.1510C>T (p.Pro504Ser) http://identifiers.org/clinvar/3885 ^@ HEXB, IVS8, G-C, +5 http://identifiers.org/clinvar/3886 ^@ HEXB, 1-BP DEL, 76A http://identifiers.org/clinvar/3887 ^@ NM_000521.3(HEXB):c.850C>T (p.Arg284Ter) http://identifiers.org/clinvar/3888 ^@ HEXB, 1-BP DEL, 965T http://identifiers.org/clinvar/3889 ^@ NM_000520.5(HEXA):c.1274_1277dupTATC (p.Tyr427Ilefs) http://identifiers.org/clinvar/3890 ^@ NM_000520.5(HEXA):c.1421+1G>C http://identifiers.org/clinvar/3891 ^@ NM_000520.5(HEXA):c.-2564_253+5128delinsG http://identifiers.org/clinvar/3892 ^@ NM_000520.5(HEXA):c.1444G>A (p.Glu482Lys) http://identifiers.org/clinvar/3893 ^@ NM_000520.5(HEXA):c.346+1G>C http://identifiers.org/clinvar/3894 ^@ NM_000520.5(HEXA):c.1510delC (p.Arg504Alafs) http://identifiers.org/clinvar/3895 ^@ NM_000520.5(HEXA):c.1511G>A (p.Arg504His) http://identifiers.org/clinvar/3896 ^@ NM_000520.5(HEXA):c.533G>A (p.Arg178His) http://identifiers.org/clinvar/3897 ^@ NM_000520.5(HEXA):c.532C>T (p.Arg178Cys) http://identifiers.org/clinvar/3898 ^@ NM_000520.5(HEXA):c.805G>A (p.Gly269Ser) http://identifiers.org/clinvar/3899 ^@ NM_000520.5(HEXA):c.1496G>A (p.Arg499His) http://identifiers.org/clinvar/3900 ^@ NM_000520.5(HEXA):c.509G>A (p.Arg170Gln) http://identifiers.org/clinvar/3901 ^@ NM_000520.5(HEXA):c.1260G>C (p.Trp420Cys) http://identifiers.org/clinvar/3902 ^@ NM_000520.5(HEXA):c.749G>A (p.Gly250Asp) http://identifiers.org/clinvar/3904 ^@ NM_000520.5(HEXA):c.409C>T (p.Arg137Ter) http://identifiers.org/clinvar/3905 ^@ NM_000520.5(HEXA):c.1177C>T (p.Arg393Ter) http://identifiers.org/clinvar/3906 ^@ NM_000520.5(HEXA):c.1510C>T (p.Arg504Cys) http://identifiers.org/clinvar/3907 ^@ HEXA, IVS4, G-T, -1 http://identifiers.org/clinvar/3908 ^@ NM_000520.5(HEXA):c.629C>T (p.Ser210Phe) http://identifiers.org/clinvar/3909 ^@ HEXA, 5-BP DEL, TCTCC, IVS9 http://identifiers.org/clinvar/3910 ^@ HEXA, 2-BP DEL, TG, EX5 http://identifiers.org/clinvar/3911 ^@ NM_000520.5(HEXA):c.78G>A (p.Trp26Ter) http://identifiers.org/clinvar/3912 ^@ NM_000520.5(HEXA):c.533G>T (p.Arg178Leu) http://identifiers.org/clinvar/3913 ^@ HEXA, IVS2, G-A, +1 http://identifiers.org/clinvar/3914 ^@ NM_000520.5(HEXA):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/3915 ^@ NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys) http://identifiers.org/clinvar/3916 ^@ NM_000520.5(HEXA):c.987G>A (p.Trp329Ter) http://identifiers.org/clinvar/3917 ^@ NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) http://identifiers.org/clinvar/3918 ^@ HEXA, 1-BP INS http://identifiers.org/clinvar/3919 ^@ NM_000520.5(HEXA):c.540C>G (p.Tyr180Ter) http://identifiers.org/clinvar/3920 ^@ NM_000520.5(HEXA):c.1073+1G>A http://identifiers.org/clinvar/3921 ^@ NM_000520.5(HEXA):c.962_964delGAG (p.Gly321del) http://identifiers.org/clinvar/3922 ^@ NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) http://identifiers.org/clinvar/242812 ^@ NM_000520.5(HEXA):c.574G>C (p.Val192Leu) http://identifiers.org/clinvar/3924 ^@ NM_000520.5(HEXA):c.772G>C (p.Asp258His) http://identifiers.org/clinvar/3925 ^@ NM_000520.5(HEXA):c.508C>T (p.Arg170Trp) http://identifiers.org/clinvar/3926 ^@ HEXA, 2-BP DEL, CODON 310 http://identifiers.org/clinvar/3927 ^@ NM_000520.5(HEXA):c.590A>C (p.Lys197Thr) http://identifiers.org/clinvar/3928 ^@ NM_000520.5(HEXA):c.672+1G>A http://identifiers.org/clinvar/3929 ^@ NM_000520.5(HEXA):c.632T>C (p.Phe211Ser) http://identifiers.org/clinvar/3930 ^@ NM_000520.5(HEXA):c.380T>G (p.Leu127Arg) http://identifiers.org/clinvar/3931 ^@ NM_000520.5(HEXA):c.611A>G (p.His204Arg) http://identifiers.org/clinvar/3932 ^@ HEXA, 2-BP DEL, TT, CODON 142 http://identifiers.org/clinvar/3933 ^@ NM_000520.5(HEXA):c.902T>G (p.Met301Arg) http://identifiers.org/clinvar/3934 ^@ NM_000520.5(HEXA):c.1360G>A (p.Gly454Ser) http://identifiers.org/clinvar/3935 ^@ NM_000520.5(HEXA):c.116T>G (p.Leu39Arg) http://identifiers.org/clinvar/3936 ^@ NM_000520.5(HEXA):c.1176G>A (p.Trp392Ter) http://identifiers.org/clinvar/3937 ^@ HEXA, IVS7, G-A, +1 http://identifiers.org/clinvar/3938 ^@ NM_000520.5(HEXA):c.805+1G>A http://identifiers.org/clinvar/3939 ^@ NM_000520.5(HEXA):c.538T>C (p.Tyr180His) http://identifiers.org/clinvar/3941 ^@ NM_000520.5(HEXA):c.1422G>C (p.Trp474Cys) http://identifiers.org/clinvar/3942 ^@ NM_000520.5(HEXA):c.1351C>G (p.Leu451Val) http://identifiers.org/clinvar/3943 ^@ NM_000520.5(HEXA):c.972T>A (p.Val324=) http://identifiers.org/clinvar/3944 ^@ SERPING1, EX7DEL http://identifiers.org/clinvar/3945 ^@ NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr) http://identifiers.org/clinvar/3946 ^@ NM_000062.2(SERPING1):c.1397G>A (p.Arg466His) http://identifiers.org/clinvar/3947 ^@ NM_000062.2(SERPING1):c.1396C>T (p.Arg466Cys) http://identifiers.org/clinvar/3948 ^@ NM_000062.2(SERPING1):c.1396C>A (p.Arg466Ser) http://identifiers.org/clinvar/3949 ^@ SERPING1, 1-BP INS, 1304A http://identifiers.org/clinvar/3950 ^@ SERPING1, 1-BP DEL, 1298T http://identifiers.org/clinvar/3951 ^@ SERPING1, IVS6, G-T, +1 http://identifiers.org/clinvar/3952 ^@ SERPING1, 1-BP DEL, 11698C http://identifiers.org/clinvar/3953 ^@ NM_000062.2(SERPING1):c.1361T>A (p.Val454Glu) http://identifiers.org/clinvar/3954 ^@ NM_000062.2(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp) http://identifiers.org/clinvar/3955 ^@ NM_000062.2(SERPING1):c.1394C>T (p.Ala465Val) http://identifiers.org/clinvar/3956 ^@ SERPING1, C-T, -103 http://identifiers.org/clinvar/3957 ^@ NM_000062.2(SERPING1):c.597C>G (p.Tyr199Ter) http://identifiers.org/clinvar/3958 ^@ NM_001498.3(GCLC):c.1109A>T (p.His370Leu) http://identifiers.org/clinvar/3959 ^@ GCLC, -129C-T http://identifiers.org/clinvar/3960 ^@ NM_000356.3(TCOF1):c.754C>T (p.Gln252Ter) http://identifiers.org/clinvar/3961 ^@ NM_000356.3(TCOF1):c.422dupA (p.His141Glnfs) http://identifiers.org/clinvar/3962 ^@ NM_000356.3(TCOF1):c.497_500delATAC (p.Asn166Ilefs) http://identifiers.org/clinvar/3963 ^@ NM_000356.3(TCOF1):c.4138_4142delAAGAA (p.Lys1380Glufs) http://identifiers.org/clinvar/3964 ^@ NM_000356.3(TCOF1):c.149A>G (p.Tyr50Cys) http://identifiers.org/clinvar/3965 ^@ NM_000356.3(TCOF1):c.1408_1409delAG (p.Ser470Glnfs) http://identifiers.org/clinvar/3966 ^@ NM_000356.3(TCOF1):c.2731C>T (p.Arg911Ter) http://identifiers.org/clinvar/3967 ^@ NM_000356.3(TCOF1):c.376_378+15del18 http://identifiers.org/clinvar/3968 ^@ NM_000356.3(TCOF1):c.4134delA (p.Glu1379Lysfs) http://identifiers.org/clinvar/3969 ^@ ALMS1, 19-BP INS http://identifiers.org/clinvar/3970 ^@ NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter) http://identifiers.org/clinvar/3971 ^@ NM_015120.4(ALMS1):c.10775delC (p.Thr3592Lysfs) http://identifiers.org/clinvar/3972 ^@ NM_015120.4(ALMS1):c.2141_2142delCT (p.Ser714Tyrfs) http://identifiers.org/clinvar/3974 ^@ NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) http://identifiers.org/clinvar/3975 ^@ NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) http://identifiers.org/clinvar/3976 ^@ NG_015833.1:g.34008_95699del61692 http://identifiers.org/clinvar/3977 ^@ NG_015833.1:g.57807_94706del36900 http://identifiers.org/clinvar/3978 ^@ NM_000144.4(FXN):c.165+1340_165+1357GAA[6] http://identifiers.org/clinvar/3979 ^@ NM_000144.4(FXN):c.317T>G (p.Leu106Ter) http://identifiers.org/clinvar/3980 ^@ NM_000144.4(FXN):c.385-2A>G http://identifiers.org/clinvar/3981 ^@ NM_000144.4(FXN):c.460A>T (p.Ile154Phe) http://identifiers.org/clinvar/3982 ^@ NM_000144.4(FXN):c.389G>T (p.Gly130Val) http://identifiers.org/clinvar/3983 ^@ NM_000144.4(FXN):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/3984 ^@ NM_000144.4(FXN):c.517T>G (p.Trp173Gly) http://identifiers.org/clinvar/3985 ^@ NM_000144.4(FXN):c.157delC (p.Arg53Alafs) http://identifiers.org/clinvar/3986 ^@ NM_017739.3(POMGNT1):c.1413+1G>T http://identifiers.org/clinvar/3987 ^@ NM_017739.3(POMGNT1):c.1413+1G>A http://identifiers.org/clinvar/3988 ^@ NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) http://identifiers.org/clinvar/3989 ^@ NM_017739.3(POMGNT1):c.1719delC (p.His573Glnfs) http://identifiers.org/clinvar/3990 ^@ NM_001243766.1(POMGNT1):c.1478C>G (p.Pro493Arg) http://identifiers.org/clinvar/3992 ^@ NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) http://identifiers.org/clinvar/3993 ^@ NM_001243766.1(POMGNT1):c.932G>A (p.Arg311Gln) http://identifiers.org/clinvar/3994 ^@ NM_001243766.1(POMGNT1):c.187C>T (p.Arg63Ter) http://identifiers.org/clinvar/3995 ^@ NM_017739.3(POMGNT1):c.1832delT (p.Leu611Argfs) http://identifiers.org/clinvar/3996 ^@ NM_001243766.1(POMGNT1):c.1425G>A (p.Trp475Ter) http://identifiers.org/clinvar/3997 ^@ NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) http://identifiers.org/clinvar/3998 ^@ NM_001243766.1(POMGNT1):c.1814G>C (p.Arg605Pro) http://identifiers.org/clinvar/3999 ^@ NM_017739.3(POMGNT1):c.652+1G>A http://identifiers.org/clinvar/4000 ^@ NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) http://identifiers.org/clinvar/4001 ^@ COG5, IVS14AS, T-C, -15 http://identifiers.org/clinvar/4002 ^@ NM_003748.3(ALDH4A1):c.1560dupT (p.Gly521Trpfs) http://identifiers.org/clinvar/4003 ^@ NM_170726.2(ALDH4A1):c.1055C>T (p.Ser352Leu) http://identifiers.org/clinvar/4004 ^@ NM_170726.2(ALDH4A1):c.21delG (p.Leu8Serfs) http://identifiers.org/clinvar/4005 ^@ NC_000022.11:g.(?_18906222)_(18936553_?)del http://identifiers.org/clinvar/4006 ^@ NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys) http://identifiers.org/clinvar/4007 ^@ NM_016335.4(PRODH):c.865T>A (p.Leu289Met) http://identifiers.org/clinvar/4008 ^@ NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) http://identifiers.org/clinvar/4009 ^@ NM_016335.4(PRODH):c.1363G>T (p.Ala455Ser) http://identifiers.org/clinvar/4010 ^@ NM_016335.4(PRODH):c.1562A>G (p.Gln521Arg) http://identifiers.org/clinvar/4011 ^@ NM_016335.4(PRODH):c.1292G>A (p.Arg431His) http://identifiers.org/clinvar/4012 ^@ NM_016335.4(PRODH):c.1561C>G (p.Gln521Glu) http://identifiers.org/clinvar/4013 ^@ NM_016335.4(PRODH):c.1397C>T (p.Thr466Met) http://identifiers.org/clinvar/4014 ^@ NM_017433.4(MYO3A):c.3129T>G (p.Tyr1043Ter) http://identifiers.org/clinvar/4015 ^@ MYO3A, IVS17, G-A, -12 http://identifiers.org/clinvar/4016 ^@ MYO3A, IVS7, A-G, -2 http://identifiers.org/clinvar/4017 ^@ NM_006657.2(FTCD):c.403C>T (p.Arg135Cys) http://identifiers.org/clinvar/4018 ^@ NM_006657.2(FTCD):c.896G>C (p.Arg299Pro) http://identifiers.org/clinvar/4019 ^@ NM_006657.2(FTCD):c.990dupG (p.Pro331Alafs) http://identifiers.org/clinvar/4020 ^@ NM_000152.4(GAA):c.271G>A (p.Asp91Asn) http://identifiers.org/clinvar/4021 ^@ NM_000152.4(GAA):c.953T>C (p.Met318Thr) http://identifiers.org/clinvar/4022 ^@ NM_000152.4(GAA):c.1561G>A (p.Glu521Lys) http://identifiers.org/clinvar/4023 ^@ NM_000152.4(GAA):c.1927G>A (p.Gly643Arg) http://identifiers.org/clinvar/4024 ^@ NM_000152.4(GAA):c.2173C>T (p.Arg725Trp) http://identifiers.org/clinvar/4025 ^@ NM_000152.4(GAA):c.896T>G (p.Leu299Arg) http://identifiers.org/clinvar/4026 ^@ NM_000152.4(GAA):c.1585_1586delTCinsGT (p.Ser529Val) http://identifiers.org/clinvar/4027 ^@ NM_000152.4(GAA):c.-32-13T>G http://identifiers.org/clinvar/4028 ^@ NM_000152.4(GAA):c.2707_2709delAAG (p.Lys903del) http://identifiers.org/clinvar/4029 ^@ NM_000152.4(GAA):c.1935C>A (p.Asp645Glu) http://identifiers.org/clinvar/4030 ^@ NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) http://identifiers.org/clinvar/4031 ^@ NM_000152.4(GAA):c.2482_2646del165 (p.Gly828_Asn882del) http://identifiers.org/clinvar/4032 ^@ NM_000152.4(GAA):c.1634C>T (p.Pro545Leu) http://identifiers.org/clinvar/4033 ^@ NM_000152.4(GAA):c.525delT (p.Glu176Argfs) http://identifiers.org/clinvar/4034 ^@ NM_000152.4(GAA):c.2560C>T (p.Arg854Ter) http://identifiers.org/clinvar/4035 ^@ NM_000152.4(GAA):c.710C>T (p.Ala237Val) http://identifiers.org/clinvar/4036 ^@ NM_000152.4(GAA):c.877G>A (p.Gly293Arg) http://identifiers.org/clinvar/4037 ^@ GAA, IVS1AS, G-C, -1 http://identifiers.org/clinvar/4038 ^@ NM_021978.3(ST14):c.2479G>A (p.Gly827Arg) http://identifiers.org/clinvar/4039 ^@ NM_021978.3(ST14):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/4040 ^@ TPO, 4-BP INS, NT1227 http://identifiers.org/clinvar/4041 ^@ TPO, 20-BP DUP http://identifiers.org/clinvar/4042 ^@ NM_000547.5(TPO):c.1618C>T (p.Arg540Ter) http://identifiers.org/clinvar/4043 ^@ NM_000547.5(TPO):c.1339A>T (p.Ile447Phe) http://identifiers.org/clinvar/4044 ^@ NM_000547.5(TPO):c.1357T>G (p.Tyr453Asp) http://identifiers.org/clinvar/4045 ^@ NM_000547.5(TPO):c.1768G>A (p.Gly590Ser) http://identifiers.org/clinvar/4046 ^@ NM_000547.5(TPO):c.2395G>A (p.Glu799Lys) http://identifiers.org/clinvar/4047 ^@ TPO, 1-BP INS, 2505C http://identifiers.org/clinvar/4048 ^@ NM_000547.5(TPO):c.1943G>A (p.Arg648Gln) http://identifiers.org/clinvar/4049 ^@ TPO, 1-BP DEL, 2512T http://identifiers.org/clinvar/4050 ^@ TPO, 1-BP INS, 2268T http://identifiers.org/clinvar/4051 ^@ NM_000547.5(TPO):c.2077C>T (p.Arg693Trp) http://identifiers.org/clinvar/4052 ^@ TPO, 1-BP DEL, 1496C http://identifiers.org/clinvar/4053 ^@ NM_000547.5(TPO):c.1978C>G (p.Gln660Glu) http://identifiers.org/clinvar/4054 ^@ TPO, 1-BP INS, 1955T http://identifiers.org/clinvar/4055 ^@ NM_012213.2(MLYCD):c.560C>G (p.Ser187Ter) http://identifiers.org/clinvar/4056 ^@ MLYCD, IVS4AS, A-G, -14 http://identifiers.org/clinvar/4057 ^@ MLYCD, 4-BP DEL, 638GTGA http://identifiers.org/clinvar/4058 ^@ MLYCD, 2-BP DEL, 947TT http://identifiers.org/clinvar/4059 ^@ NM_012213.2(MLYCD):c.8G>A (p.Gly3Asp) http://identifiers.org/clinvar/4060 ^@ NM_012213.2(MLYCD):c.119T>C (p.Met40Thr) http://identifiers.org/clinvar/4061 ^@ MLYCD, 25-BP DEL, NT84 http://identifiers.org/clinvar/4062 ^@ NM_014080.4(DUOX2):c.1300C>T (p.Arg434Ter) http://identifiers.org/clinvar/4063 ^@ NM_014080.4(DUOX2):c.2056C>T (p.Gln686Ter) http://identifiers.org/clinvar/4064 ^@ NM_014080.4(DUOX2):c.2524C>T (p.Arg842Ter) http://identifiers.org/clinvar/4065 ^@ NM_014080.4(DUOX2):c.1126C>T (p.Arg376Trp) http://identifiers.org/clinvar/4066 ^@ NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) http://identifiers.org/clinvar/4067 ^@ NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) http://identifiers.org/clinvar/4068 ^@ SAMHD1, IVS14AS, G-C, -1 http://identifiers.org/clinvar/4069 ^@ NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) http://identifiers.org/clinvar/4070 ^@ NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter) http://identifiers.org/clinvar/4071 ^@ NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter) http://identifiers.org/clinvar/4072 ^@ NM_015474.3(SAMHD1):c.368A>C (p.His123Pro) http://identifiers.org/clinvar/4073 ^@ NM_015474.3(SAMHD1):c.760A>G (p.Met254Val) http://identifiers.org/clinvar/4074 ^@ NM_012464.4(TLL1):c.544A>C (p.Met182Leu) http://identifiers.org/clinvar/4075 ^@ NM_012464.4(TLL1):c.713T>C (p.Val238Ala) http://identifiers.org/clinvar/4076 ^@ NM_012464.4(TLL1):c.1885A>G (p.Ile629Val) http://identifiers.org/clinvar/4077 ^@ NM_017882.2(CLN6):c.214G>T (p.Glu72Ter) http://identifiers.org/clinvar/4078 ^@ NM_017882.2(CLN6):c.511_513delTAT (p.Tyr172del) http://identifiers.org/clinvar/4079 ^@ NM_017882.2(CLN6):c.368G>A (p.Gly123Asp) http://identifiers.org/clinvar/4080 ^@ NM_017882.2(CLN6):c.7delG (p.Ala3Argfs) http://identifiers.org/clinvar/4081 ^@ NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) http://identifiers.org/clinvar/4082 ^@ NM_017882.2(CLN6):c.395_396delCT (p.Ser132Cysfs) http://identifiers.org/clinvar/4083 ^@ NM_017882.2(CLN6):c.460_462delATC (p.Ile154del) http://identifiers.org/clinvar/4084 ^@ NM_017882.2(CLN6):c.663C>G (p.Tyr221Ter) http://identifiers.org/clinvar/4085 ^@ NM_017882.2(CLN6):c.542+5G>T http://identifiers.org/clinvar/4086 ^@ NM_017882.2(CLN6):c.268_271dupAACG (p.Val91Glufs) http://identifiers.org/clinvar/4087 ^@ NM_000112.3(SLC26A2):c.1724delA (p.Lys575Serfs) http://identifiers.org/clinvar/4088 ^@ NM_000112.3(SLC26A2):c.391delC (p.Leu131Cysfs) http://identifiers.org/clinvar/4089 ^@ NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) http://identifiers.org/clinvar/4090 ^@ NM_000112.3(SLC26A2):c.764G>A (p.Gly255Glu) http://identifiers.org/clinvar/4091 ^@ NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) http://identifiers.org/clinvar/4092 ^@ NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) http://identifiers.org/clinvar/4093 ^@ NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) http://identifiers.org/clinvar/4094 ^@ NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) http://identifiers.org/clinvar/4096 ^@ NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) http://identifiers.org/clinvar/4097 ^@ NM_000112.3(SLC26A2):c.-26+2T>C http://identifiers.org/clinvar/4098 ^@ NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) http://identifiers.org/clinvar/4099 ^@ NM_000112.3(SLC26A2):c.1535C>A (p.Thr512Lys) http://identifiers.org/clinvar/4100 ^@ NM_000112.3(SLC26A2):c.398C>T (p.Ala133Val) http://identifiers.org/clinvar/4101 ^@ NM_003619.3(PRSS12):c.1355_1358delACGT (p.Asp452Alafs) http://identifiers.org/clinvar/4102 ^@ NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) http://identifiers.org/clinvar/4103 ^@ NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/4104 ^@ NM_138691.2(TMC1):c.1960A>G (p.Met654Val) http://identifiers.org/clinvar/4105 ^@ NM_138691.2(TMC1):c.1714G>C (p.Asp572His) http://identifiers.org/clinvar/4106 ^@ TMC1, IVS5DS, G-T, +1 http://identifiers.org/clinvar/4107 ^@ NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg) http://identifiers.org/clinvar/4108 ^@ NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) http://identifiers.org/clinvar/4109 ^@ NM_138694.3(PKHD1):c.4991C>T (p.Ser1664Phe) http://identifiers.org/clinvar/4110 ^@ NM_138694.3(PKHD1):c.9053C>T (p.Ser3018Phe) http://identifiers.org/clinvar/4111 ^@ NM_138694.3(PKHD1):c.5221G>A (p.Val1741Met) http://identifiers.org/clinvar/4112 ^@ NM_138694.3(PKHD1):c.8011C>T (p.Arg2671Ter) http://identifiers.org/clinvar/4113 ^@ NM_138694.3(PKHD1):c.10658T>C (p.Ile3553Thr) http://identifiers.org/clinvar/4114 ^@ NM_138694.3(PKHD1):c.1486C>T (p.Arg496Ter) http://identifiers.org/clinvar/4115 ^@ NM_138694.3(PKHD1):c.10412T>G (p.Val3471Gly) http://identifiers.org/clinvar/4116 ^@ PKHD1, IVS46DS, A-G, +653 http://identifiers.org/clinvar/4117 ^@ NM_001034116.1(EIF2B4):c.1070G>A (p.Arg357Gln) http://identifiers.org/clinvar/4118 ^@ NM_001034116.1(EIF2B4):c.1120C>T (p.Arg374Cys) http://identifiers.org/clinvar/4119 ^@ NM_001034116.1(EIF2B4):c.1191+1G>A http://identifiers.org/clinvar/4120 ^@ NM_001034116.1(EIF2B4):c.683C>T (p.Ala228Val) http://identifiers.org/clinvar/4121 ^@ NM_001034116.1(EIF2B4):c.1393T>C (p.Cys465Arg) http://identifiers.org/clinvar/4122 ^@ NM_001034116.1(EIF2B4):c.1465T>C (p.Tyr489His) http://identifiers.org/clinvar/4123 ^@ NM_001414.3(EIF2B1):c.252+1G>A http://identifiers.org/clinvar/4124 ^@ NM_001414.3(EIF2B1):c.622A>T (p.Asn208Tyr) http://identifiers.org/clinvar/4125 ^@ NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter) http://identifiers.org/clinvar/4126 ^@ NM_022081.5(HPS4):c.2089_2093dupAAGCA (p.Lys699Serfs) http://identifiers.org/clinvar/4127 ^@ NM_022081.5(HPS4):c.57delT (p.Leu20Phefs) http://identifiers.org/clinvar/4128 ^@ NM_022081.5(HPS4):c.541C>T (p.Gln181Ter) http://identifiers.org/clinvar/4129 ^@ NM_022081.5(HPS4):c.949_972dup24 (p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu) http://identifiers.org/clinvar/4130 ^@ NM_022081.5(HPS4):c.649C>T (p.Arg217Ter) http://identifiers.org/clinvar/4131 ^@ NM_022081.5(HPS4):c.412G>T (p.Glu138Ter) http://identifiers.org/clinvar/4132 ^@ NM_022081.5(HPS4):c.664G>T (p.Glu222Ter) http://identifiers.org/clinvar/4133 ^@ HPS4, 1-BP DEL, C, CODON 685 http://identifiers.org/clinvar/4134 ^@ NSD1, 1.9-MB DEL http://identifiers.org/clinvar/4135 ^@ NM_022455.4(NSD1):c.1310C>G (p.Ser437Ter) http://identifiers.org/clinvar/4136 ^@ NSD1, 1-BP DEL, 3536A http://identifiers.org/clinvar/4137 ^@ NSD1, 1-BP INS, 5998T http://identifiers.org/clinvar/4138 ^@ NSD1, IVS20DS, G-A, +1 http://identifiers.org/clinvar/4139 ^@ NM_022455.4(NSD1):c.6429C>G (p.His2143Gln) http://identifiers.org/clinvar/4140 ^@ NM_022455.4(NSD1):c.6548G>C (p.Cys2183Ser) http://identifiers.org/clinvar/4141 ^@ NM_022455.4(NSD1):c.6450dupC (p.Lys2151Glnfs) http://identifiers.org/clinvar/4142 ^@ NSD1, 1-BP DEL, 896C http://identifiers.org/clinvar/4143 ^@ NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter) http://identifiers.org/clinvar/4144 ^@ NSD1, 1-BP INS, 4976G http://identifiers.org/clinvar/4145 ^@ NSD1, 4-BP DEL, 7968GACA http://identifiers.org/clinvar/4146 ^@ NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr) http://identifiers.org/clinvar/4147 ^@ NM_016327.2(UPB1):c.105-2A>G http://identifiers.org/clinvar/4148 ^@ NM_016327.2(UPB1):c.917-2A>G http://identifiers.org/clinvar/4149 ^@ NM_016327.2(UPB1):c.254C>A (p.Ala85Glu) http://identifiers.org/clinvar/4150 ^@ NM_016327.2(UPB1):c.209G>C (p.Arg70Pro) http://identifiers.org/clinvar/4151 ^@ NM_000173.6(GP1BA):c.1077G>A (p.Trp359Ter) http://identifiers.org/clinvar/4152 ^@ GP1BA, 92-BP DUP, SER399-THR411 DUP, VARIABLE REPEATS http://identifiers.org/clinvar/4153 ^@ NM_000173.6(GP1BA):c.746G>T (p.Gly249Val) http://identifiers.org/clinvar/4154 ^@ NM_000173.6(GP1BA):c.217C>T (p.Leu73Phe) http://identifiers.org/clinvar/4155 ^@ NM_000173.6(GP1BA):c.763A>G (p.Met255Val) http://identifiers.org/clinvar/4156 ^@ NM_000173.6(GP1BA):c.515C>T (p.Ala172Val) http://identifiers.org/clinvar/4157 ^@ NM_000173.6(GP1BA):c.1620G>A (p.Trp540Ter) http://identifiers.org/clinvar/4159 ^@ NM_130806.4(RXFP2):c.664A>C (p.Thr222Pro) http://identifiers.org/clinvar/4160 ^@ NM_024996.5(GFM1):c.521A>G (p.Asn174Ser) http://identifiers.org/clinvar/4161 ^@ NM_024996.5(GFM1):c.139C>T (p.Arg47Ter) http://identifiers.org/clinvar/4162 ^@ NM_024996.5(GFM1):c.1487T>G (p.Met496Arg) http://identifiers.org/clinvar/4163 ^@ NM_001033053.2(NLRP1):c.464T>A (p.Leu155His) http://identifiers.org/clinvar/4164 ^@ NM_002772.2(TMPRSS15):c.2135C>G (p.Ser712Ter) http://identifiers.org/clinvar/4165 ^@ NM_002772.2(TMPRSS15):c.2569C>T (p.Arg857Ter) http://identifiers.org/clinvar/4166 ^@ NM_002772.2(TMPRSS15):c.781C>T (p.Gln261Ter) http://identifiers.org/clinvar/4167 ^@ PRSS7, 2-BP DEL, 2707GT http://identifiers.org/clinvar/4168 ^@ NM_014989.5(RIMS1):c.2459G>A (p.Arg820His) http://identifiers.org/clinvar/4169 ^@ NM_018960.5(GNMT):c.149T>C (p.Leu50Pro) http://identifiers.org/clinvar/4170 ^@ NM_018960.5(GNMT):c.529C>A (p.His177Asn) http://identifiers.org/clinvar/4171 ^@ NM_014140.3(SMARCAL1):c.2542G>T (p.Glu848Ter) http://identifiers.org/clinvar/4172 ^@ NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter) http://identifiers.org/clinvar/4173 ^@ NM_014140.3(SMARCAL1):c.100C>T (p.Gln34Ter) http://identifiers.org/clinvar/4174 ^@ NM_014140.3(SMARCAL1):c.1643T>A (p.Ile548Asn) http://identifiers.org/clinvar/4175 ^@ NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys) http://identifiers.org/clinvar/4176 ^@ NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp) http://identifiers.org/clinvar/4177 ^@ SMARCAL1, 4-BP DEL, 1146AAGT http://identifiers.org/clinvar/4178 ^@ NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln) http://identifiers.org/clinvar/4179 ^@ NM_033629.4(TREX1):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/4180 ^@ NM_033629.4(TREX1):c.490C>T (p.Arg164Ter) http://identifiers.org/clinvar/4181 ^@ NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) http://identifiers.org/clinvar/4182 ^@ NM_016381.5(TREX1):c.767T>A (p.Val256Asp) http://identifiers.org/clinvar/4183 ^@ TREX1, 1-BP DUP, 375T http://identifiers.org/clinvar/4184 ^@ NM_016381.5(TREX1):c.763G>A (p.Asp255Asn) http://identifiers.org/clinvar/4185 ^@ NM_033629.4(TREX1):c.52G>A (p.Asp18Asn) http://identifiers.org/clinvar/4186 ^@ TREX1, 1-BP INS, 3688G http://identifiers.org/clinvar/4187 ^@ TREX1, 4-BP DUP, 3727GTCA http://identifiers.org/clinvar/4188 ^@ NM_080738.3(EDARADD):c.424G>A (p.Glu142Lys) http://identifiers.org/clinvar/4189 ^@ NM_080738.3(EDARADD):c.335T>G (p.Leu112Arg) http://identifiers.org/clinvar/4190 ^@ NM_018972.2(GDAP1):c.92G>A (p.Trp31Ter) http://identifiers.org/clinvar/4191 ^@ NM_018972.2(GDAP1):c.581C>G (p.Ser194Ter) http://identifiers.org/clinvar/4192 ^@ NM_018972.2(GDAP1):c.482G>A (p.Arg161His) http://identifiers.org/clinvar/4193 ^@ NM_018972.2(GDAP1):c.487C>T (p.Gln163Ter) http://identifiers.org/clinvar/4194 ^@ GDAP1, 1-BP INS, 863A http://identifiers.org/clinvar/4195 ^@ NM_018972.2(GDAP1):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/4196 ^@ GDAP1, 1-BP INS, 349T http://identifiers.org/clinvar/4197 ^@ GDAP1, IVS4DS, G-A, +1 http://identifiers.org/clinvar/4198 ^@ NM_018972.2(GDAP1):c.358C>T (p.Arg120Trp) http://identifiers.org/clinvar/4199 ^@ NM_018972.2(GDAP1):c.469A>C (p.Thr157Pro) http://identifiers.org/clinvar/4200 ^@ NM_018972.2(GDAP1):c.715C>T (p.Leu239Phe) http://identifiers.org/clinvar/4201 ^@ NM_018972.2(GDAP1):c.652C>G (p.Gln218Glu) http://identifiers.org/clinvar/4202 ^@ NM_018972.2(GDAP1):c.692C>T (p.Pro231Leu) http://identifiers.org/clinvar/4203 ^@ NM_018972.2(GDAP1):c.719G>A (p.Cys240Tyr) http://identifiers.org/clinvar/4204 ^@ NM_018972.2(GDAP1):c.678A>T (p.Arg226Ser) http://identifiers.org/clinvar/4205 ^@ PAX3, 18-BP DEL, EX2 http://identifiers.org/clinvar/4206 ^@ NM_181457.3(PAX3):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/4207 ^@ PAX3, 14-BP DEL, EX2 http://identifiers.org/clinvar/4208 ^@ PAX3, 1-BP DEL http://identifiers.org/clinvar/4209 ^@ PAX3, 2-BP DEL, 556CA http://identifiers.org/clinvar/4210 ^@ NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) http://identifiers.org/clinvar/4211 ^@ PAX3, 5-BP DEL, EX5 http://identifiers.org/clinvar/4212 ^@ NM_181457.3(PAX3):c.251C>T (p.Ser84Phe) http://identifiers.org/clinvar/4213 ^@ NM_181457.3(PAX3):c.141C>G (p.Asn47Lys) http://identifiers.org/clinvar/4214 ^@ NM_181457.3(PAX3):c.139A>C (p.Asn47His) http://identifiers.org/clinvar/4215 ^@ PAX3, 13-BP DEL, NT384 http://identifiers.org/clinvar/4216 ^@ NM_181457.3(PAX3):c.268T>C (p.Tyr90His) http://identifiers.org/clinvar/4217 ^@ NM_181457.3(PAX3):c.167G>T (p.Arg56Leu) http://identifiers.org/clinvar/4218 ^@ NM_024301.4(FKRP):c.926A>G (p.Tyr309Cys) http://identifiers.org/clinvar/4219 ^@ NM_024301.4(FKRP):c.1154C>A (p.Ser385Ter) http://identifiers.org/clinvar/4220 ^@ NM_024301.4(FKRP):c.1343C>T (p.Pro448Leu) http://identifiers.org/clinvar/4221 ^@ NM_024301.4(FKRP):c.826C>A (p.Leu276Ile) http://identifiers.org/clinvar/4222 ^@ NM_024301.4(FKRP):c.387_390dupACCT (p.Asp131Thrfs) http://identifiers.org/clinvar/4223 ^@ NM_024301.4(FKRP):c.1486T>A (p.Ter496Arg) http://identifiers.org/clinvar/4224 ^@ NM_024301.4(FKRP):c.946C>A (p.Pro316Thr) http://identifiers.org/clinvar/4225 ^@ NM_024301.4(FKRP):c.663C>A (p.Ser221Arg) http://identifiers.org/clinvar/4226 ^@ NM_024301.4(FKRP):c.1364C>A (p.Ala455Asp) http://identifiers.org/clinvar/4227 ^@ NM_024301.4(FKRP):c.1213G>T (p.Val405Leu) http://identifiers.org/clinvar/4228 ^@ NM_024301.4(FKRP):c.160C>T (p.Arg54Trp) http://identifiers.org/clinvar/4229 ^@ NM_024301.4(FKRP):c.235G>A (p.Val79Met) http://identifiers.org/clinvar/4230 ^@ NM_024301.4(FKRP):c.764G>A (p.Trp255Ter) http://identifiers.org/clinvar/4231 ^@ NM_024301.4(FKRP):c.400C>T (p.Arg134Trp) http://identifiers.org/clinvar/4232 ^@ NM_024301.4(FKRP):c.899T>C (p.Val300Ala) http://identifiers.org/clinvar/4233 ^@ NM_024301.4(FKRP):c.919T>A (p.Tyr307Asn) http://identifiers.org/clinvar/4234 ^@ NM_024301.4(FKRP):c.953G>A (p.Cys318Tyr) http://identifiers.org/clinvar/4235 ^@ NM_024301.4(FKRP):c.1387A>G (p.Asn463Asp) http://identifiers.org/clinvar/4236 ^@ NM_031889.2(ENAM):c.534+1G>A http://identifiers.org/clinvar/4237 ^@ NM_031889.2(ENAM):c.157A>T (p.Lys53Ter) http://identifiers.org/clinvar/4238 ^@ NM_031889.2(ENAM):c.1259_1260insAG (p.Pro422Valfs) http://identifiers.org/clinvar/4239 ^@ NM_025136.3(OPA3):c.143-1G>C http://identifiers.org/clinvar/4240 ^@ NM_025136.3(OPA3):c.277G>A (p.Gly93Ser) http://identifiers.org/clinvar/4241 ^@ NM_025136.3(OPA3):c.313C>G (p.Gln105Glu) http://identifiers.org/clinvar/4242 ^@ NM_025136.3(OPA3):c.320_337del18 (p.Gln108_Glu113del) http://identifiers.org/clinvar/4243 ^@ NM_033118.3(MYLK2):c.260C>T (p.Ala87Val) http://identifiers.org/clinvar/4244 ^@ NM_033118.3(MYLK2):c.284C>A (p.Ala95Glu) http://identifiers.org/clinvar/4245 ^@ NM_021020.3(LZTS1):c.85T>C (p.Ser29Pro) http://identifiers.org/clinvar/4246 ^@ NM_021020.3(LZTS1):c.355A>G (p.Lys119Glu) http://identifiers.org/clinvar/4247 ^@ MYO5B, 9-BP INS, NT1362 http://identifiers.org/clinvar/4248 ^@ MYO5B, IVS10AS, A-G, -2 http://identifiers.org/clinvar/4249 ^@ NM_001080467.2(MYO5B):c.323T>G (p.Val108Gly) http://identifiers.org/clinvar/4250 ^@ NM_001080467.2(MYO5B):c.1125G>A (p.Trp375Ter) http://identifiers.org/clinvar/4251 ^@ NM_001080467.2(MYO5B):c.1966C>T (p.Arg656Cys) http://identifiers.org/clinvar/4252 ^@ NM_001080467.2(MYO5B):c.1979C>T (p.Pro660Leu) http://identifiers.org/clinvar/4253 ^@ SCGB3A2, -112G/A http://identifiers.org/clinvar/4254 ^@ NM_000784.3(CYP27A1):c.1435C>T (p.Arg479Cys) http://identifiers.org/clinvar/4255 ^@ NM_000784.3(CYP27A1):c.1183C>T (p.Arg395Cys) http://identifiers.org/clinvar/4256 ^@ NM_000784.3(CYP27A1):c.845-1G>A http://identifiers.org/clinvar/4257 ^@ NM_000784.3(CYP27A1):c.844+1G>A http://identifiers.org/clinvar/4258 ^@ NM_000784.3(CYP27A1):c.1421G>A (p.Arg474Gln) http://identifiers.org/clinvar/4259 ^@ NM_000784.3(CYP27A1):c.1420C>T (p.Arg474Trp) http://identifiers.org/clinvar/4260 ^@ NM_000784.3(CYP27A1):c.1214G>A (p.Arg405Gln) http://identifiers.org/clinvar/4261 ^@ NM_000784.3(CYP27A1):c.1183C>A (p.Arg395Ser) http://identifiers.org/clinvar/4262 ^@ NM_000784.3(CYP27A1):c.1263+1G>A http://identifiers.org/clinvar/4264 ^@ NM_000784.3(CYP27A1):c.434G>A (p.Gly145Glu) http://identifiers.org/clinvar/4265 ^@ NM_000784.3(CYP27A1):c.944_948delTGGCC (p.Leu315Glnfs) http://identifiers.org/clinvar/4266 ^@ NM_000784.3(CYP27A1):c.1016C>T (p.Thr339Met) http://identifiers.org/clinvar/4267 ^@ NM_000784.3(CYP27A1):c.1435C>G (p.Arg479Gly) http://identifiers.org/clinvar/4268 ^@ NM_024101.6(MLPH):c.103C>T (p.Arg35Trp) http://identifiers.org/clinvar/4269 ^@ NM_021734.4(SLC25A19):c.530G>C (p.Gly177Ala) http://identifiers.org/clinvar/4270 ^@ HAVCR1, 6-AA INS http://identifiers.org/clinvar/4271 ^@ NM_005857.4(ZMPSTE24):c.1085dupT (p.Leu362Phefs) http://identifiers.org/clinvar/4272 ^@ NM_005857.4(ZMPSTE24):c.1018T>C (p.Trp340Arg) http://identifiers.org/clinvar/4274 ^@ NM_005857.4(ZMPSTE24):c.121C>T (p.Gln41Ter) http://identifiers.org/clinvar/4275 ^@ NM_005857.4(ZMPSTE24):c.743C>T (p.Pro248Leu) http://identifiers.org/clinvar/4276 ^@ NM_005857.4(ZMPSTE24):c.715G>T (p.Glu239Ter) http://identifiers.org/clinvar/4277 ^@ NM_025194.2(ITPKC):c.1155+9G>C http://identifiers.org/clinvar/4278 ^@ CD320, 3-BP DEL, 262GAG http://identifiers.org/clinvar/4279 ^@ NM_018648.3(NOP10):c.100C>T (p.Arg34Trp) http://identifiers.org/clinvar/4280 ^@ NM_017838.3(NHP2):c.415T>C (p.Tyr139His) http://identifiers.org/clinvar/4281 ^@ NM_017838.3(NHP2):c.376G>A (p.Val126Met) http://identifiers.org/clinvar/4282 ^@ NM_017838.3(NHP2):c.460T>A (p.Ter154Arg) http://identifiers.org/clinvar/4283 ^@ HAMP, 1-BP DEL, 93G http://identifiers.org/clinvar/4284 ^@ NM_021175.3(HAMP):c.166C>T (p.Arg56Ter) http://identifiers.org/clinvar/4285 ^@ HAMP, 4-BP DEL, ATGG http://identifiers.org/clinvar/4286 ^@ NM_021175.3(HAMP):c.212G>A (p.Gly71Asp) http://identifiers.org/clinvar/4287 ^@ HAMP, +14G-A, 5-PRIME UTR http://identifiers.org/clinvar/4288 ^@ NM_000157.3(GBA):c.1448T>C (p.Leu483Pro) http://identifiers.org/clinvar/4289 ^@ NM_001005741.2(GBA):c.1361C>G (p.Pro454Arg) http://identifiers.org/clinvar/4290 ^@ NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) http://identifiers.org/clinvar/4291 ^@ NM_000157.3(GBA):c.476G>A (p.Arg159Gln) http://identifiers.org/clinvar/4292 ^@ NM_001005741.2(GBA):c.1297G>T (p.Val433Leu) http://identifiers.org/clinvar/4293 ^@ NM_000157.3(GBA):c.1342G>C (p.Asp448His) http://identifiers.org/clinvar/4294 ^@ NM_000157.3(GBA):c.1343A>T (p.Asp448Val) http://identifiers.org/clinvar/4295 ^@ NM_000157.3(GBA):c.1504C>T (p.Arg502Cys) http://identifiers.org/clinvar/4296 ^@ NM_001005741.2(GBA):c.254G>A (p.Gly85Glu) http://identifiers.org/clinvar/4298 ^@ NM_001005741.2(GBA):c.764T>A (p.Phe255Tyr) http://identifiers.org/clinvar/242811 ^@ NM_001005741.2(GBA):c.535G>C (p.Asp179His) http://identifiers.org/clinvar/4300 ^@ NM_001005741.2(GBA):c.586A>C (p.Lys196Gln) http://identifiers.org/clinvar/4301 ^@ NM_000157.3(GBA):c.754T>A (p.Phe252Ile) http://identifiers.org/clinvar/4302 ^@ NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) http://identifiers.org/clinvar/4303 ^@ NM_001005741.2(GBA):c.1309G>T (p.Val437Phe) http://identifiers.org/clinvar/4304 ^@ NM_000157.3(GBA):c.27+1G>A http://identifiers.org/clinvar/4305 ^@ NM_001005741.2(GBA):c.983C>T (p.Pro328Leu) http://identifiers.org/clinvar/4306 ^@ NM_001005741.2(GBA):c.1085C>T (p.Thr362Ile) http://identifiers.org/clinvar/4307 ^@ NM_001005741.2(GBA):c.72delC (p.Leu25Serfs) http://identifiers.org/clinvar/4308 ^@ NM_001005741.2(GBA):c.481C>T (p.Pro161Ser) http://identifiers.org/clinvar/4309 ^@ NM_001005741.2(GBA):c.751T>C (p.Tyr251His) http://identifiers.org/clinvar/4310 ^@ NM_001005741.2(GBA):c.1549G>A (p.Gly517Ser) http://identifiers.org/clinvar/4311 ^@ NM_000157.3(GBA):c.1604G>A (p.Arg535His) http://identifiers.org/clinvar/4313 ^@ NM_001005741.2(GBA):c.160G>T (p.Val54Leu) http://identifiers.org/clinvar/4314 ^@ NM_000157.3(GBA):c.680A>G (p.Asn227Ser) http://identifiers.org/clinvar/4315 ^@ NM_001005741.2(GBA):c.763T>G (p.Phe255Val) http://identifiers.org/clinvar/4316 ^@ NM_001005741.2(GBA):c.1043C>T (p.Ala348Val) http://identifiers.org/clinvar/4317 ^@ NM_001005741.2(GBA):c.1053G>T (p.Trp351Cys) http://identifiers.org/clinvar/4318 ^@ NM_001005741.2(GBA):c.1090G>A (p.Gly364Arg) http://identifiers.org/clinvar/4319 ^@ NM_001005741.2(GBA):c.1141T>G (p.Cys381Gly) http://identifiers.org/clinvar/4320 ^@ NM_001005741.2(GBA):c.1208G>C (p.Ser403Thr) http://identifiers.org/clinvar/4321 ^@ NM_001005741.2(GBA):c.259C>T (p.Arg87Trp) http://identifiers.org/clinvar/4322 ^@ NM_001005741.2(GBA):c.532delC (p.Pro178Leufs) http://identifiers.org/clinvar/4323 ^@ NM_001005741.2(GBA):c.1174C>G (p.Arg392Gly) http://identifiers.org/clinvar/4324 ^@ NM_001005741.2(GBA):c.1319C>T (p.Pro440Leu) http://identifiers.org/clinvar/4325 ^@ NM_001005741.2(GBA):c.1049A>G (p.His350Arg) http://identifiers.org/clinvar/4326 ^@ NM_001005741.2(GBA):c.1192C>T (p.Arg398Ter) http://identifiers.org/clinvar/4327 ^@ NM_000157.3(GBA):c.1246G>A (p.Gly416Ser) http://identifiers.org/clinvar/4328 ^@ NM_000157.3(GBA):c.887G>A (p.Arg296Gln) http://identifiers.org/clinvar/4329 ^@ NM_000157.3(GBA):c.509G>T (p.Arg170Leu) http://identifiers.org/clinvar/4330 ^@ NM_001005741.2(GBA):c.354G>C (p.Lys118Asn) http://identifiers.org/clinvar/4331 ^@ NM_001005741.2(GBA):c.870C>A (p.Phe290Leu) http://identifiers.org/clinvar/4332 ^@ NM_001005741.2(GBA):c.1228C>G (p.Leu410Val) http://identifiers.org/clinvar/4333 ^@ GBA, IVS10DS, G-A, -1 http://identifiers.org/clinvar/242810 ^@ NM_001005741.2(GBA):c.882T>G (p.His294Gln) http://identifiers.org/clinvar/4335 ^@ NM_001005741.2(GBA):c.1444G>A (p.Asp482Asn) http://identifiers.org/clinvar/4336 ^@ NM_014239.3(EIF2B2):c.638A>G (p.Glu213Gly) http://identifiers.org/clinvar/4337 ^@ NM_014239.3(EIF2B2):c.947T>A (p.Val316Asp) http://identifiers.org/clinvar/4338 ^@ NM_014239.3(EIF2B2):c.547C>T (p.Arg183Ter) http://identifiers.org/clinvar/4339 ^@ NM_014239.3(EIF2B2):c.512C>T (p.Ser171Phe) http://identifiers.org/clinvar/4340 ^@ NM_014239.3(EIF2B2):c.607_612delATGGCTinsTG (p.Met203Trpfs) http://identifiers.org/clinvar/4341 ^@ NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser) http://identifiers.org/clinvar/4342 ^@ NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) http://identifiers.org/clinvar/4343 ^@ NM_153700.2(STRC):c.3156dupC (p.Cys1053Leufs) http://identifiers.org/clinvar/4344 ^@ NM_153700.2(STRC):c.2171_2174delTTTG (p.Val724Glyfs) http://identifiers.org/clinvar/4345 ^@ NC_000015.10:g.(?_43599438)_(43608225_43613711)del http://identifiers.org/clinvar/4346 ^@ NM_015915.4(ATL1):c.715C>T (p.Arg239Cys) http://identifiers.org/clinvar/4347 ^@ NM_001127713.1(ATL1):c.776C>A (p.Ser259Tyr) http://identifiers.org/clinvar/4348 ^@ NM_015915.4(ATL1):c.773A>G (p.His258Arg) http://identifiers.org/clinvar/4349 ^@ NM_001127713.1(ATL1):c.650G>A (p.Arg217Gln) http://identifiers.org/clinvar/4350 ^@ ATL1, 1-BP INS, 1688A http://identifiers.org/clinvar/4351 ^@ NM_015915.4(ATL1):c.1222A>G (p.Met408Val) http://identifiers.org/clinvar/4352 ^@ NM_015915.4(ATL1):c.1243C>T (p.Arg415Trp) http://identifiers.org/clinvar/4353 ^@ NM_001127713.1(ATL1):c.470T>G (p.Leu157Trp) http://identifiers.org/clinvar/4354 ^@ ATL1, 3-BP DEL http://identifiers.org/clinvar/4355 ^@ NM_022051.2(EGLN1):c.950C>G (p.Pro317Arg) http://identifiers.org/clinvar/4356 ^@ NM_022051.2(EGLN1):c.1112G>A (p.Arg371His) http://identifiers.org/clinvar/4357 ^@ NM_022051.2(EGLN1):c.1121A>G (p.His374Arg) http://identifiers.org/clinvar/4358 ^@ NM_015629.3(PRPF31):c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs) http://identifiers.org/clinvar/4359 ^@ NM_015629.3(PRPF31):c.646G>C (p.Ala216Pro) http://identifiers.org/clinvar/4360 ^@ NM_015629.3(PRPF31):c.527+3A>G http://identifiers.org/clinvar/4361 ^@ PRPF31, IVS6AS, 42-BP DEL, -3 http://identifiers.org/clinvar/4362 ^@ NM_015629.3(PRPF31):c.581C>A (p.Ala194Glu) http://identifiers.org/clinvar/4363 ^@ PRPF31, 33-BP INS, NT580 http://identifiers.org/clinvar/4364 ^@ PRPF31, 1-BP INS, 769A http://identifiers.org/clinvar/4365 ^@ PRPF31, 12-BP DEL http://identifiers.org/clinvar/4366 ^@ NM_015629.3(PRPF31):c.1374+654C>G http://identifiers.org/clinvar/4367 ^@ NM_014762.3(DHCR24):c.1412A>C (p.Tyr471Ser) http://identifiers.org/clinvar/242809 ^@ NM_014762.3(DHCR24):c.881A>C (p.Asn294Thr) http://identifiers.org/clinvar/4369 ^@ NM_014762.3(DHCR24):c.571G>A (p.Glu191Lys) http://identifiers.org/clinvar/4370 ^@ NM_001243133.1(NLRP3):c.1316C>T (p.Ala439Val) http://identifiers.org/clinvar/4371 ^@ NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) http://identifiers.org/clinvar/4372 ^@ NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly) http://identifiers.org/clinvar/4373 ^@ NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val) http://identifiers.org/clinvar/4374 ^@ NM_001243133.1(NLRP3):c.778C>T (p.Arg260Trp) http://identifiers.org/clinvar/4375 ^@ NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg) http://identifiers.org/clinvar/4376 ^@ NM_001243133.1(NLRP3):c.1718T>C (p.Phe573Ser) http://identifiers.org/clinvar/4377 ^@ NM_001243133.1(NLRP3):c.907G>A (p.Asp303Asn) http://identifiers.org/clinvar/4378 ^@ NM_001243133.1(NLRP3):c.926T>C (p.Phe309Ser) http://identifiers.org/clinvar/4379 ^@ NM_001243133.1(NLRP3):c.1058T>C (p.Leu353Pro) http://identifiers.org/clinvar/4380 ^@ NM_057176.2(BSND):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/4381 ^@ NM_057176.2(BSND):c.22C>T (p.Arg8Trp) http://identifiers.org/clinvar/4382 ^@ BSND, IVS1, 41-BP DEL http://identifiers.org/clinvar/4383 ^@ BSND, EX3-EX4 DEL http://identifiers.org/clinvar/4384 ^@ NM_057176.2(BSND):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/4385 ^@ NM_057176.2(BSND):c.28G>A (p.Gly10Ser) http://identifiers.org/clinvar/4386 ^@ NM_057176.2(BSND):c.23G>T (p.Arg8Leu) http://identifiers.org/clinvar/4387 ^@ NM_057176.2(BSND):c.139G>A (p.Gly47Arg) http://identifiers.org/clinvar/4388 ^@ NM_057176.2(BSND):c.35T>C (p.Ile12Thr) http://identifiers.org/clinvar/4389 ^@ NM_057176.2(BSND):c.10G>T (p.Glu4Ter) http://identifiers.org/clinvar/4390 ^@ NM_032208.2(ANTXR1):c.976G>A (p.Ala326Thr) http://identifiers.org/clinvar/4391 ^@ NM_031483.6(ITCH):c.394dupA (p.Ile132Asnfs) http://identifiers.org/clinvar/4392 ^@ NM_001195794.1(CLRN1):c.567T>G (p.Tyr189Ter) http://identifiers.org/clinvar/4393 ^@ NM_001195794.1(CLRN1):c.359T>A (p.Met120Lys) http://identifiers.org/clinvar/4394 ^@ CLRN1, 3-BP DEL, 459ATT http://identifiers.org/clinvar/4395 ^@ NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) http://identifiers.org/clinvar/4396 ^@ NM_001195794.1(CLRN1):c.488T>C (p.Leu163Pro) http://identifiers.org/clinvar/4397 ^@ NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) http://identifiers.org/clinvar/4398 ^@ CLRN1, 23-BP DEL, NT187 http://identifiers.org/clinvar/4399 ^@ NM_174878.2(CLRN1):c.118T>G (p.Cys40Gly) http://identifiers.org/clinvar/4400 ^@ NM_053054.3(CATSPER1):c.539dupT (p.His182Profs) http://identifiers.org/clinvar/4401 ^@ NM_053054.3(CATSPER1):c.944_948dupATGGC (p.Asp317Metfs) http://identifiers.org/clinvar/4402 ^@ NM_052968.4(APOA5):c.553G>T (p.Gly185Cys) http://identifiers.org/clinvar/4403 ^@ NM_052968.4(APOA5):c.56C>G (p.Ser19Trp) http://identifiers.org/clinvar/4404 ^@ NM_052968.4(APOA5):c.415C>T (p.Gln139Ter) http://identifiers.org/clinvar/4405 ^@ NM_020919.3(ALS2):c.138delA (p.Ala47Profs) http://identifiers.org/clinvar/4406 ^@ NM_020919.3(ALS2):c.1867_1868delCT (p.Leu623Valfs) http://identifiers.org/clinvar/4407 ^@ NM_020919.3(ALS2):c.1425_1426delAG (p.Glu476Glyfs) http://identifiers.org/clinvar/4408 ^@ NM_020919.3(ALS2):c.3619delA (p.Met1207Terfs) http://identifiers.org/clinvar/4409 ^@ NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG http://identifiers.org/clinvar/4410 ^@ NM_020919.3(ALS2):c.2537_2538delAT (p.Asn846Ilefs) http://identifiers.org/clinvar/4411 ^@ NM_020919.3(ALS2):c.1007_1008delTA (p.Ile336Thrfs) http://identifiers.org/clinvar/4412 ^@ NM_020919.3(ALS2):c.4721delT (p.Val1574Alafs) http://identifiers.org/clinvar/4413 ^@ NM_020919.3(ALS2):c.2992C>T (p.Arg998Ter) http://identifiers.org/clinvar/4414 ^@ NM_020919.3(ALS2):c.553delA (p.Thr185Leufs) http://identifiers.org/clinvar/4415 ^@ NM_020919.3(ALS2):c.470G>A (p.Cys157Tyr) http://identifiers.org/clinvar/4416 ^@ NM_020919.3(ALS2):c.2980-2A>G http://identifiers.org/clinvar/4417 ^@ NM_020919.3(ALS2):c.2143C>T (p.Gln715Ter) http://identifiers.org/clinvar/4418 ^@ ESPN, 4-BP DEL, 2469GTCA http://identifiers.org/clinvar/4419 ^@ ESPN, 4-BP DEL, 1988AGAG http://identifiers.org/clinvar/4420 ^@ NM_031475.2(ESPN):c.2155A>C (p.Ser719Arg) http://identifiers.org/clinvar/4421 ^@ NM_031475.2(ESPN):c.2230G>A (p.Asp744Asn) http://identifiers.org/clinvar/4422 ^@ NM_031475.2(ESPN):c.2321G>A (p.Arg774Gln) http://identifiers.org/clinvar/4423 ^@ ESPN, 3-BP DEL, 2541AAG http://identifiers.org/clinvar/4424 ^@ ESPN, 1-BP INS, 1757G http://identifiers.org/clinvar/4425 ^@ NM_175073.2(APTX):c.689dupT (p.Glu232Glyfs) http://identifiers.org/clinvar/4426 ^@ NM_175073.2(APTX):c.617C>T (p.Pro206Leu) http://identifiers.org/clinvar/4427 ^@ NM_175073.2(APTX):c.840delT (p.Ser281Leufs) http://identifiers.org/clinvar/4428 ^@ NM_175073.2(APTX):c.788T>G (p.Val263Gly) http://identifiers.org/clinvar/4429 ^@ NM_175073.2(APTX):c.602A>G (p.His201Arg) http://identifiers.org/clinvar/4430 ^@ APTX, IVS7AS, G-A, -1 http://identifiers.org/clinvar/4431 ^@ NM_175073.2(APTX):c.837G>A (p.Trp279Ter) http://identifiers.org/clinvar/4432 ^@ NC_000009.12:g.(?_32973498)_(33001604_?)del http://identifiers.org/clinvar/4433 ^@ NM_175073.2(APTX):c.668T>C (p.Leu223Pro) http://identifiers.org/clinvar/4434 ^@ NM_003978.4(PSTPIP1):c.748G>C (p.Glu250Gln) http://identifiers.org/clinvar/4435 ^@ NM_003978.4(PSTPIP1):c.688G>A (p.Ala230Thr) http://identifiers.org/clinvar/4436 ^@ NM_007374.2(SIX6):c.493A>G (p.Thr165Ala) http://identifiers.org/clinvar/4437 ^@ NM_020365.4(EIF2B3):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/4438 ^@ EIF2B3, 2-BP DEL, 1295TG http://identifiers.org/clinvar/4439 ^@ NM_020365.4(EIF2B3):c.260C>T (p.Ala87Val) http://identifiers.org/clinvar/4440 ^@ NM_020365.4(EIF2B3):c.1037T>C (p.Ile346Thr) http://identifiers.org/clinvar/4441 ^@ NM_001031681.2(CTNS):c.283G>T (p.Gly95Ter) http://identifiers.org/clinvar/4442 ^@ CTNS, 2-BP DEL, 397TG http://identifiers.org/clinvar/4443 ^@ NM_004937.2(CTNS):c.414G>A (p.Trp138Ter) http://identifiers.org/clinvar/4444 ^@ CTNS, 4-BP DEL, 18GACT http://identifiers.org/clinvar/4445 ^@ NC_000017.11:g.3600934_3658165del57232 http://identifiers.org/clinvar/4446 ^@ NM_001031681.2(CTNS):c.506G>A (p.Gly169Asp) http://identifiers.org/clinvar/4447 ^@ NM_004937.2(CTNS):c.124G>A (p.Val42Ile) http://identifiers.org/clinvar/4448 ^@ CTNS, IVS7AS, C-G, -10 http://identifiers.org/clinvar/4449 ^@ NM_004937.2(CTNS):c.853-3C>G http://identifiers.org/clinvar/4450 ^@ CTNS, 5-BP DEL, NT545 http://identifiers.org/clinvar/4451 ^@ NM_004937.2(CTNS):c.589G>A (p.Gly197Arg) http://identifiers.org/clinvar/4452 ^@ CTNS, -295G-C http://identifiers.org/clinvar/4453 ^@ CTNS, -303G-T http://identifiers.org/clinvar/4454 ^@ CTNS, 1-BP INS, -303T http://identifiers.org/clinvar/4455 ^@ NM_004937.2(CTNS):c.1015G>A (p.Gly339Arg) http://identifiers.org/clinvar/4456 ^@ NM_001031681.2(CTNS):c.969C>G (p.Asn323Lys) http://identifiers.org/clinvar/4457 ^@ NM_001031681.2(CTNS):c.329G>T (p.Gly110Val) http://identifiers.org/clinvar/4458 ^@ NM_004937.2(CTNS):c.416C>T (p.Ser139Phe) http://identifiers.org/clinvar/4459 ^@ TNFRSF13C, 24-BP DEL, NT89 http://identifiers.org/clinvar/4460 ^@ NM_025216.2(WNT10A):c.697G>T (p.Glu233Ter) http://identifiers.org/clinvar/4461 ^@ NM_025216.2(WNT10A):c.321C>A (p.Cys107Ter) http://identifiers.org/clinvar/4462 ^@ NM_025216.2(WNT10A):c.682T>A (p.Phe228Ile) http://identifiers.org/clinvar/4463 ^@ NM_025216.2(WNT10A):c.383G>A (p.Arg128Gln) http://identifiers.org/clinvar/4464 ^@ NM_025216.2(WNT10A):c.1128C>A (p.Cys376Ter) http://identifiers.org/clinvar/4465 ^@ NM_025216.2(WNT10A):c.27G>A (p.Trp9Ter) http://identifiers.org/clinvar/4466 ^@ NM_197947.2(CLEC7A):c.714T>G (p.Tyr238Ter) http://identifiers.org/clinvar/4467 ^@ NM_001039661.1(TIRAP):c.539C>T (p.Ser180Leu) http://identifiers.org/clinvar/4468 ^@ NM_177438.2(DICER1):c.4748T>G (p.Leu1583Arg) http://identifiers.org/clinvar/4469 ^@ NM_177438.2(DICER1):c.1507G>T (p.Glu503Ter) http://identifiers.org/clinvar/4470 ^@ NM_177438.2(DICER1):c.2830C>T (p.Arg944Ter) http://identifiers.org/clinvar/4471 ^@ DICER1, 1-BP INS, 2574A http://identifiers.org/clinvar/4472 ^@ NM_177438.2(DICER1):c.1630C>T (p.Arg544Ter) http://identifiers.org/clinvar/4474 ^@ NM_031433.3(MFRP):c.1150dupC (p.His384Profs) http://identifiers.org/clinvar/4475 ^@ NM_031433.3(MFRP):c.523C>T (p.Gln175Ter) http://identifiers.org/clinvar/4476 ^@ NM_031433.3(MFRP):c.498delC (p.Asn167Thrfs) http://identifiers.org/clinvar/4477 ^@ NM_031433.3(MFRP):c.545T>C (p.Ile182Thr) http://identifiers.org/clinvar/4478 ^@ NM_031433.3(MFRP):c.498dupC (p.Asn167Glnfs) http://identifiers.org/clinvar/4479 ^@ NM_001002010.2(NT5C3A):c.410A>T (p.Asp137Val) http://identifiers.org/clinvar/4480 ^@ NM_001002010.2(NT5C3A):c.646C>T (p.Gln216Ter) http://identifiers.org/clinvar/4481 ^@ NM_016489.12(NT5C3A):c.592-1G>T http://identifiers.org/clinvar/4482 ^@ NM_016489.12(NT5C3A):c.743_744insGG (p.Val249Glufs) http://identifiers.org/clinvar/4483 ^@ NM_001002010.2(NT5C3A):c.660T>G (p.Tyr220Ter) http://identifiers.org/clinvar/4484 ^@ NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) http://identifiers.org/clinvar/4485 ^@ NM_016489.12(NT5C3A):c.592-1G>C http://identifiers.org/clinvar/4486 ^@ NM_001002010.2(NT5C3A):c.686A>G (p.Asn229Ser) http://identifiers.org/clinvar/4487 ^@ NM_016489.12(NT5C3A):c.576delG (p.Asp193Ilefs) http://identifiers.org/clinvar/4488 ^@ NM_001002010.2(NT5C3A):c.838G>C (p.Gly280Arg) http://identifiers.org/clinvar/4489 ^@ NM_020451.2(SELENON):c.818G>A (p.Gly273Glu) http://identifiers.org/clinvar/4490 ^@ NM_020451.2(SEPN1):c.1385G>A (p.Sec462=) http://identifiers.org/clinvar/4491 ^@ NM_020451.2(SELENON):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/4492 ^@ NM_020451.2(SELENON):c.1397G>A (p.Arg466Gln) http://identifiers.org/clinvar/4493 ^@ NM_020451.2(SELENON):c.1358G>C (p.Trp453Ser) http://identifiers.org/clinvar/4494 ^@ NM_020451.2(SELENON):c.713dupA (p.Asn238Lysfs) http://identifiers.org/clinvar/4495 ^@ NM_020451.2(SELENON):c.1384T>G (p.Sec462Gly) http://identifiers.org/clinvar/4496 ^@ NM_020451.2(SELENON):c.943G>A (p.Gly315Ser) http://identifiers.org/clinvar/4497 ^@ SEPN1, 92-BP DEL http://identifiers.org/clinvar/4498 ^@ NM_016180.4(SLC45A2):c.563-1G>A http://identifiers.org/clinvar/4499 ^@ NM_016180.4(SLC45A2):c.1082T>C (p.Leu361Pro) http://identifiers.org/clinvar/4500 ^@ NM_016180.4(SLC45A2):c.986delC (p.Thr329Lysfs) http://identifiers.org/clinvar/4501 ^@ NM_016180.4(SLC45A2):c.661_663delTTC (p.Phe221del) http://identifiers.org/clinvar/4502 ^@ NM_016180.4(SLC45A2):c.1457C>T (p.Ala486Val) http://identifiers.org/clinvar/4503 ^@ NM_016180.4(SLC45A2):c.469G>A (p.Asp157Asn) http://identifiers.org/clinvar/4504 ^@ NM_016180.4(SLC45A2):c.814G>A (p.Glu272Lys) http://identifiers.org/clinvar/4505 ^@ NM_016180.4(SLC45A2):c.1122C>G (p.Phe374Leu) http://identifiers.org/clinvar/4506 ^@ NM_016180.4(SLC45A2):c.1121delT (p.Phe374Serfs) http://identifiers.org/clinvar/4507 ^@ WFS1, 2-BP DEL, 2812TC http://identifiers.org/clinvar/4508 ^@ WFS1, 15-BP DEL, NT1685 http://identifiers.org/clinvar/4509 ^@ NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) http://identifiers.org/clinvar/4510 ^@ NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) http://identifiers.org/clinvar/4511 ^@ NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) http://identifiers.org/clinvar/4512 ^@ NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) http://identifiers.org/clinvar/4513 ^@ WFS1, 7-BP INS, NT1610 http://identifiers.org/clinvar/4514 ^@ WFS1, 9-BP DEL, NT1380 http://identifiers.org/clinvar/4515 ^@ WFS1, 460, G-A, +1 http://identifiers.org/clinvar/4516 ^@ NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) http://identifiers.org/clinvar/4517 ^@ NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) http://identifiers.org/clinvar/4519 ^@ NM_006005.3(WFS1):c.409_424dup16 (p.Val142Glyfs) http://identifiers.org/clinvar/4520 ^@ NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) http://identifiers.org/clinvar/4521 ^@ NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) http://identifiers.org/clinvar/4522 ^@ NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) http://identifiers.org/clinvar/4523 ^@ NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) http://identifiers.org/clinvar/4524 ^@ NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) http://identifiers.org/clinvar/4525 ^@ WFS1, 16-BP DEL, NT1362 http://identifiers.org/clinvar/4526 ^@ NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) http://identifiers.org/clinvar/4527 ^@ NM_006005.3(WFS1):c.461-9A>G http://identifiers.org/clinvar/4528 ^@ NM_006005.3(WFS1):c.713-1075C>G http://identifiers.org/clinvar/4529 ^@ NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) http://identifiers.org/clinvar/4530 ^@ NM_030762.2(BHLHE41):c.1151C>G (p.Pro384Arg) http://identifiers.org/clinvar/4531 ^@ NM_032667.6(BSCL2):c.192_193delCCinsGGA (p.Ser64Argfs) http://identifiers.org/clinvar/4532 ^@ NM_032667.6(BSCL2):c.301_302insAA (p.Met101Lysfs) http://identifiers.org/clinvar/4533 ^@ NM_032667.6(BSCL2):c.315_316delGT (p.Tyr106Serfs) http://identifiers.org/clinvar/4534 ^@ BSCL2, 258-BP DEL/12-BP INS http://identifiers.org/clinvar/4535 ^@ NM_032667.6(BSCL2):c.317_321delATCGT (p.Tyr106Cysfs) http://identifiers.org/clinvar/4536 ^@ NM_032667.6(BSCL2):c.325dupA (p.Thr109Asnfs) http://identifiers.org/clinvar/4537 ^@ NM_032667.6(BSCL2):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/4538 ^@ BSCL2, IVS4, G-A, +1 http://identifiers.org/clinvar/4539 ^@ NM_032667.6(BSCL2):c.634G>C (p.Ala212Pro) http://identifiers.org/clinvar/4540 ^@ NM_032667.6(BSCL2):c.636delC (p.Tyr213Thrfs) http://identifiers.org/clinvar/4541 ^@ NM_032667.6(BSCL2):c.671+5G>A http://identifiers.org/clinvar/4542 ^@ NM_032667.6(BSCL2):c.672-3C>G http://identifiers.org/clinvar/4543 ^@ NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser) http://identifiers.org/clinvar/4544 ^@ NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) http://identifiers.org/clinvar/4545 ^@ NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/4546 ^@ NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) http://identifiers.org/clinvar/4547 ^@ NM_153638.3(PANK2):c.927_933delTGTCTTT (p.Phe311Profs) http://identifiers.org/clinvar/4548 ^@ NM_153638.3(PANK2):c.1561G>A (p.Gly521Arg) http://identifiers.org/clinvar/4549 ^@ NM_153638.3(PANK2):c.570C>G (p.Tyr190Ter) http://identifiers.org/clinvar/4550 ^@ NM_153638.3(PANK2):c.790C>T (p.Arg264Trp) http://identifiers.org/clinvar/4551 ^@ NM_153638.3(PANK2):c.856C>T (p.Arg286Cys) http://identifiers.org/clinvar/4552 ^@ NM_153638.3(PANK2):c.1412G>A (p.Ser471Asn) http://identifiers.org/clinvar/4553 ^@ NM_153638.3(PANK2):c.1051T>C (p.Ser351Pro) http://identifiers.org/clinvar/4554 ^@ NM_153638.3(PANK2):c.700A>G (p.Thr234Ala) http://identifiers.org/clinvar/4555 ^@ NM_153638.3(PANK2):c.832C>T (p.Arg278Cys) http://identifiers.org/clinvar/4556 ^@ NM_153638.3(PANK2):c.1583C>T (p.Thr528Met) http://identifiers.org/clinvar/4557 ^@ NM_153638.3(PANK2):c.1441C>T (p.Arg481Ter) http://identifiers.org/clinvar/4558 ^@ NM_153638.3(PANK2):c.1310T>C (p.Met437Thr) http://identifiers.org/clinvar/4559 ^@ NM_153638.3(PANK2):c.1413-1G>T http://identifiers.org/clinvar/4560 ^@ NM_153638.3(PANK2):c.1442_1444delGAG (p.Arg481_Glu482delinsGln) http://identifiers.org/clinvar/4561 ^@ NM_153638.3(PANK2):c.533C>A (p.Ser178Ter) http://identifiers.org/clinvar/4562 ^@ NM_025243.3(SLC19A3):c.68G>T (p.Gly23Val) http://identifiers.org/clinvar/4563 ^@ NM_025243.3(SLC19A3):c.1264A>G (p.Thr422Ala) http://identifiers.org/clinvar/4564 ^@ SLC19A3, IVS3AS, A-G, -14 http://identifiers.org/clinvar/4565 ^@ NM_025243.3(SLC19A3):c.130A>G (p.Lys44Glu) http://identifiers.org/clinvar/4566 ^@ NM_025243.3(SLC19A3):c.958G>C (p.Glu320Gln) http://identifiers.org/clinvar/4567 ^@ SLC19A3, 1-BP DUP, 74T http://identifiers.org/clinvar/4568 ^@ NM_031885.3(BBS2):c.940delA (p.Ile314Serfs) http://identifiers.org/clinvar/4569 ^@ NM_031885.3(BBS2):c.224T>G (p.Val75Gly) http://identifiers.org/clinvar/4570 ^@ NM_031885.3(BBS2):c.72C>G (p.Tyr24Ter) http://identifiers.org/clinvar/4571 ^@ NM_031885.3(BBS2):c.175C>T (p.Gln59Ter) http://identifiers.org/clinvar/4572 ^@ NM_031885.3(BBS2):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/4573 ^@ NM_031885.3(BBS2):c.943C>T (p.Arg315Trp) http://identifiers.org/clinvar/4574 ^@ BBS2, ASP170FS, TER171 http://identifiers.org/clinvar/4575 ^@ BBS2, CYS210FS, TER246 http://identifiers.org/clinvar/4576 ^@ NM_031885.3(BBS2):c.209A>G (p.Asn70Ser) http://identifiers.org/clinvar/4577 ^@ NM_031885.3(BBS2):c.311A>C (p.Asp104Ala) http://identifiers.org/clinvar/4578 ^@ NM_031885.3(BBS2):c.1895G>C (p.Arg632Pro) http://identifiers.org/clinvar/4579 ^@ NM_031885.3(BBS2):c.118-1G>C http://identifiers.org/clinvar/4580 ^@ NM_031885.3(BBS2):c.472delG (p.Val158Leufs) http://identifiers.org/clinvar/4581 ^@ BBS2, LEU168FS, TER170 http://identifiers.org/clinvar/4582 ^@ BBS2, THR560ILE http://identifiers.org/clinvar/4583 ^@ NM_031885.3(BBS2):c.646C>T (p.Arg216Ter) http://identifiers.org/clinvar/4584 ^@ NM_031885.3(BBS2):c.416G>T (p.Gly139Val) http://identifiers.org/clinvar/4585 ^@ NM_030777.3(SLC2A10):c.510G>A (p.Trp170Ter) http://identifiers.org/clinvar/4586 ^@ NM_030777.3(SLC2A10):c.961delG (p.Val321Cysfs) http://identifiers.org/clinvar/4587 ^@ NM_030777.3(SLC2A10):c.1334delG (p.Gly445Glufs) http://identifiers.org/clinvar/4588 ^@ NM_030777.3(SLC2A10):c.243C>G (p.Ser81Arg) http://identifiers.org/clinvar/4589 ^@ NM_030777.3(SLC2A10):c.1276G>T (p.Gly426Trp) http://identifiers.org/clinvar/4590 ^@ NM_030777.3(SLC2A10):c.394C>T (p.Arg132Trp) http://identifiers.org/clinvar/4591 ^@ NM_183227.2(RAB23):c.434T>A (p.Leu145Ter) http://identifiers.org/clinvar/4592 ^@ RAB23, 1-BP INS, 408T http://identifiers.org/clinvar/4593 ^@ SLC2A9, IVS6, A/G http://identifiers.org/clinvar/4594 ^@ SLC2A9, IVS4, T/C http://identifiers.org/clinvar/4595 ^@ SLC2A9, IVS7, G/T http://identifiers.org/clinvar/4596 ^@ NM_020041.2(SLC2A9):c.1138C>T (p.Arg380Trp) http://identifiers.org/clinvar/4597 ^@ NM_020041.2(SLC2A9):c.592C>T (p.Arg198Cys) http://identifiers.org/clinvar/4598 ^@ NM_001001290.1(SLC2A9):c.1148C>G (p.Pro383Arg) http://identifiers.org/clinvar/4599 ^@ NM_020427.2(SLURP1):c.82delT (p.Cys28Alafs) http://identifiers.org/clinvar/4600 ^@ NM_020427.2(SLURP1):c.178+1G>A http://identifiers.org/clinvar/4601 ^@ NM_020427.2(SLURP1):c.286C>T (p.Arg96Ter) http://identifiers.org/clinvar/4602 ^@ NM_020427.2(SLURP1):c.256G>A (p.Gly86Arg) http://identifiers.org/clinvar/4603 ^@ NM_020427.2(SLURP1):c.256G>C (p.Gly86Arg) http://identifiers.org/clinvar/4604 ^@ NM_020427.2(SLURP1):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/4605 ^@ NM_020427.2(SLURP1):c.43T>C (p.Trp15Arg) http://identifiers.org/clinvar/4606 ^@ NM_020427.2(SLURP1):c.229T>C (p.Cys77Arg) http://identifiers.org/clinvar/4607 ^@ NM_020427.2(SLURP1):c.296G>A (p.Cys99Tyr) http://identifiers.org/clinvar/4608 ^@ NM_032383.4(HPS3):c.(-3010)_(217)+692del http://identifiers.org/clinvar/4609 ^@ NM_032383.4(HPS3):c.1163+1G>A http://identifiers.org/clinvar/4610 ^@ NM_032383.4(HPS3):c.1691+2T>G http://identifiers.org/clinvar/4611 ^@ NM_032383.4(HPS3):c.2482-2A>G http://identifiers.org/clinvar/4612 ^@ NM_032383.4(HPS3):c.2589+1G>C http://identifiers.org/clinvar/4613 ^@ NM_032383.4(HPS3):c.1189C>T (p.Arg397Trp) http://identifiers.org/clinvar/4614 ^@ HPS3, 89-BP INS http://identifiers.org/clinvar/4615 ^@ NM_012398.2(PIP5K1C):c.757G>A (p.Asp253Asn) http://identifiers.org/clinvar/4616 ^@ C10ORF2, 39-BP DUP http://identifiers.org/clinvar/4617 ^@ NM_021830.4(TWNK):c.1423G>C (p.Ala475Pro) http://identifiers.org/clinvar/4618 ^@ NM_021830.4(TWNK):c.1075G>A (p.Ala359Thr) http://identifiers.org/clinvar/4619 ^@ NM_021830.4(TWNK):c.1422G>A (p.Trp474Ter) http://identifiers.org/clinvar/4620 ^@ NM_021830.4(TWNK):c.944G>T (p.Trp315Leu) http://identifiers.org/clinvar/4621 ^@ NM_021830.4(TWNK):c.1061G>C (p.Arg354Pro) http://identifiers.org/clinvar/4622 ^@ NM_021830.4(TWNK):c.1142T>C (p.Leu381Pro) http://identifiers.org/clinvar/4623 ^@ NM_021830.4(TWNK):c.1001G>A (p.Arg334Gln) http://identifiers.org/clinvar/4624 ^@ NM_021830.4(TWNK):c.1106C>A (p.Ser369Tyr) http://identifiers.org/clinvar/4625 ^@ NM_021830.4(TWNK):c.955A>G (p.Lys319Glu) http://identifiers.org/clinvar/4626 ^@ NM_021830.4(TWNK):c.1370C>T (p.Thr457Ile) http://identifiers.org/clinvar/4627 ^@ NM_021830.4(TWNK):c.1523A>G (p.Tyr508Cys) http://identifiers.org/clinvar/4628 ^@ NM_021830.4(TWNK):c.908G>A (p.Arg303Gln) http://identifiers.org/clinvar/4629 ^@ NM_021830.4(TWNK):c.1120C>T (p.Arg374Trp) http://identifiers.org/clinvar/4630 ^@ NM_021830.4(TWNK):c.952G>A (p.Ala318Thr) http://identifiers.org/clinvar/4631 ^@ NM_005445.3(SMC3):c.1464_1466delAGA (p.Glu488del) http://identifiers.org/clinvar/4632 ^@ NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) http://identifiers.org/clinvar/4633 ^@ NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter) http://identifiers.org/clinvar/4634 ^@ NM_001077653.2(TBX20):c.363C>G (p.Ile121Met) http://identifiers.org/clinvar/4635 ^@ NM_052985.3(IFT122):c.1658T>G (p.Val553Gly) http://identifiers.org/clinvar/4636 ^@ NM_052985.3(IFT122):c.1118C>T (p.Ser373Phe) http://identifiers.org/clinvar/4637 ^@ NM_052985.3(IFT122):c.502+5G>A http://identifiers.org/clinvar/4638 ^@ NM_052985.3(IFT122):c.21G>C (p.Trp7Cys) http://identifiers.org/clinvar/4639 ^@ CD96, EXONIC BREAKPOINT http://identifiers.org/clinvar/4640 ^@ NM_198196.2(CD96):c.839C>T (p.Thr280Met) http://identifiers.org/clinvar/4641 ^@ NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser) http://identifiers.org/clinvar/4642 ^@ ALX3, IVS2AS, A-T, -2 http://identifiers.org/clinvar/4643 ^@ NM_006492.2(ALX3):c.608A>G (p.Asn203Ser) http://identifiers.org/clinvar/4644 ^@ NM_006492.2(ALX3):c.502C>G (p.Leu168Val) http://identifiers.org/clinvar/4645 ^@ NM_006492.2(ALX3):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/4646 ^@ NM_006492.2(ALX3):c.543T>A (p.Tyr181Ter) http://identifiers.org/clinvar/4647 ^@ NM_006492.2(ALX3):c.578_581delCTGA (p.Thr193Argfs) http://identifiers.org/clinvar/4648 ^@ NM_006492.2(ALX3):c.586C>T (p.Arg196Trp) http://identifiers.org/clinvar/4649 ^@ NM_001304561.1(BTNL2):c.1078A= (p.Ser360=) http://identifiers.org/clinvar/4650 ^@ NM_006118.3(HAX1):c.568C>T (p.Gln190Ter) http://identifiers.org/clinvar/4651 ^@ HAX1, 1-BP INS, 130A http://identifiers.org/clinvar/4652 ^@ HAX1, 1-BP INS, 431G http://identifiers.org/clinvar/4653 ^@ HAX1, 1-BP INS, 175C http://identifiers.org/clinvar/4654 ^@ NM_006118.3(HAX1):c.256C>T (p.Arg86Ter) http://identifiers.org/clinvar/4655 ^@ HAX1, 59-BP DEL, NT376 http://identifiers.org/clinvar/4656 ^@ HAX1, 1-BP INS, 121G http://identifiers.org/clinvar/4657 ^@ HAX1, 1-BP DEL, 91G http://identifiers.org/clinvar/4658 ^@ NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) http://identifiers.org/clinvar/4659 ^@ NM_015074.3(KIF1B):c.1937A>T (p.Glu646Val) http://identifiers.org/clinvar/4660 ^@ NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile) http://identifiers.org/clinvar/4661 ^@ NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) http://identifiers.org/clinvar/4662 ^@ NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) http://identifiers.org/clinvar/4663 ^@ PDP1, 3-BP DEL, LEU213 http://identifiers.org/clinvar/4664 ^@ NM_018444.3(PDP1):c.277G>T (p.Glu93Ter) http://identifiers.org/clinvar/4665 ^@ NM_001033855.2(DCLRE1C):c.241C>T (p.Arg81Ter) http://identifiers.org/clinvar/4666 ^@ DCLRE1C, EX1-4DEL http://identifiers.org/clinvar/4667 ^@ DCLRE1C, EX5-6DEL http://identifiers.org/clinvar/4668 ^@ DCLRE1C, IVS11DS, G-C, +1 http://identifiers.org/clinvar/4669 ^@ DCLRE1C, IVS10DS, G-A, +1 http://identifiers.org/clinvar/4670 ^@ DCLRE1C, IVS5DS, G-T, +1 http://identifiers.org/clinvar/4671 ^@ NM_022487.3(DCLRE1C):c.435delG (p.Ala146Glnfs) http://identifiers.org/clinvar/4672 ^@ DCLRE1C, EX5-8DEL http://identifiers.org/clinvar/4673 ^@ NM_001033855.2(DCLRE1C):c.597C>A (p.Tyr199Ter) http://identifiers.org/clinvar/4674 ^@ NM_001033855.2(DCLRE1C):c.103C>G (p.His35Asp) http://identifiers.org/clinvar/4675 ^@ NM_001033855.2(DCLRE1C):c.1346_1352delTTGTAGA (p.Asp451Lysfs) http://identifiers.org/clinvar/4676 ^@ DCLRE1C, 17-BP DEL http://identifiers.org/clinvar/4677 ^@ NM_001033855.2(DCLRE1C):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/4678 ^@ NM_174916.2(UBR1):c.407A>G (p.His136Arg) http://identifiers.org/clinvar/4679 ^@ UBR1, IVS20DS, T-C, +2 http://identifiers.org/clinvar/4680 ^@ NM_174916.2(UBR1):c.1537C>T (p.Gln513Ter) http://identifiers.org/clinvar/4681 ^@ UBR1, IVS26DS, G-A, +5 http://identifiers.org/clinvar/4682 ^@ NM_033305.2(VPS13A):c.269T>A (p.Ile90Lys) http://identifiers.org/clinvar/4683 ^@ VPS13A, 1-BP INS, 6404T http://identifiers.org/clinvar/4684 ^@ VPS13A, 260-BP DEL http://identifiers.org/clinvar/4685 ^@ NM_033305.2(VPS13A):c.622C>T (p.Arg208Ter) http://identifiers.org/clinvar/4686 ^@ VPS13A, 8035G-A http://identifiers.org/clinvar/4687 ^@ VPS13A, 1-BP DEL, 6059C http://identifiers.org/clinvar/4688 ^@ VPS13A, 7-KB DEL http://identifiers.org/clinvar/4689 ^@ VPS13A, 37-KB DEL http://identifiers.org/clinvar/4690 ^@ VPS13A, 2-BP DUP, 3556AC http://identifiers.org/clinvar/4691 ^@ NM_022162.2(NOD2):c.3019dupC (p.Leu1007Profs) http://identifiers.org/clinvar/4692 ^@ NM_022162.2(NOD2):c.2722G>C (p.Gly908Arg) http://identifiers.org/clinvar/4693 ^@ NM_022162.2(NOD2):c.2104C>T (p.Arg702Trp) http://identifiers.org/clinvar/4694 ^@ NM_022162.2(NOD2):c.1001G>A (p.Arg334Gln) http://identifiers.org/clinvar/4695 ^@ NM_022162.2(NOD2):c.1405C>T (p.Leu469Phe) http://identifiers.org/clinvar/4696 ^@ NM_022162.2(NOD2):c.1000C>T (p.Arg334Trp) http://identifiers.org/clinvar/4697 ^@ NM_022162.2(NOD2):c.2798+158C>T http://identifiers.org/clinvar/4698 ^@ NM_022162.2(NOD2):c.1487A>T (p.His496Leu) http://identifiers.org/clinvar/4699 ^@ NM_022162.2(NOD2):c.1146C>G (p.Asp382Glu) http://identifiers.org/clinvar/4700 ^@ NM_022162.2(NOD2):c.1834G>A (p.Ala612Thr) http://identifiers.org/clinvar/4701 ^@ NM_022162.2(NOD2):c.1147G>A (p.Glu383Lys) http://identifiers.org/clinvar/4702 ^@ NM_153741.1(DPM3):c.254T>C (p.Leu85Ser) http://identifiers.org/clinvar/4703 ^@ NM_006031.5(PCNT):c.658G>T (p.Glu220Ter) http://identifiers.org/clinvar/4704 ^@ NM_006031.5(PCNT):c.1887delA (p.Ala630Hisfs) http://identifiers.org/clinvar/4705 ^@ NM_006031.5(PCNT):c.3568dupT (p.Cys1190Leufs) http://identifiers.org/clinvar/4706 ^@ NM_006031.5(PCNT):c.5767C>T (p.Arg1923Ter) http://identifiers.org/clinvar/4707 ^@ PCNT, 1-BP INS, 841G http://identifiers.org/clinvar/4708 ^@ NM_006031.5(PCNT):c.3109G>T (p.Glu1037Ter) http://identifiers.org/clinvar/4709 ^@ PCNT, 486-BP DEL, NT84 http://identifiers.org/clinvar/4710 ^@ NM_006031.5(PCNT):c.8752C>T (p.Arg2918Ter) http://identifiers.org/clinvar/4711 ^@ NM_003156.3(STIM1):c.381dupA (p.Glu128Argfs) http://identifiers.org/clinvar/4712 ^@ NM_139314.2(ANGPTL4):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/4713 ^@ NM_015166.3(MLC1):c.839C>T (p.Ser280Leu) http://identifiers.org/clinvar/4714 ^@ NM_015166.3(MLC1):c.278C>T (p.Ser93Leu) http://identifiers.org/clinvar/4715 ^@ MLC1, 7-BP DEL, NT564 http://identifiers.org/clinvar/4716 ^@ MLC1, IVS10AS, A-G, -2 http://identifiers.org/clinvar/4717 ^@ NM_015166.3(MLC1):c.423C>A (p.Asn141Lys) http://identifiers.org/clinvar/4718 ^@ NM_015166.3(MLC1):c.422A>G (p.Asn141Ser) http://identifiers.org/clinvar/4719 ^@ NM_015166.3(MLC1):c.274C>T (p.Pro92Ser) http://identifiers.org/clinvar/4720 ^@ NM_015166.3(MLC1):c.594_597delCTCA (p.Tyr198Terfs) http://identifiers.org/clinvar/4721 ^@ NM_015166.3(MLC1):c.176G>A (p.Gly59Glu) http://identifiers.org/clinvar/4722 ^@ NM_015166.3(MLC1):c.135dupC (p.Cys46Leufs) http://identifiers.org/clinvar/4723 ^@ MLC1, 17-BP DEL, G INS http://identifiers.org/clinvar/4724 ^@ NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) http://identifiers.org/clinvar/4725 ^@ NM_019109.4(ALG1):c.1025A>C (p.Gln342Pro) http://identifiers.org/clinvar/4726 ^@ NM_019109.4(ALG1):c.450C>G (p.Ser150Arg) http://identifiers.org/clinvar/4727 ^@ NM_007078.2(LDB3):c.690-4733G>A http://identifiers.org/clinvar/4728 ^@ NM_001080114.1(LDB3):c.494C>T (p.Ala165Val) http://identifiers.org/clinvar/4729 ^@ NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) http://identifiers.org/clinvar/4730 ^@ NM_007078.2(LDB3):c.1035C>G (p.Ile345Met) http://identifiers.org/clinvar/4731 ^@ NM_001080116.1(LDB3):c.321+1523C>T http://identifiers.org/clinvar/4732 ^@ NM_007078.2(LDB3):c.617C>T (p.Thr206Ile) http://identifiers.org/clinvar/4733 ^@ NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) http://identifiers.org/clinvar/4734 ^@ NM_001080116.1(LDB3):c.383A>T (p.Lys128Met) http://identifiers.org/clinvar/4735 ^@ NM_007078.2(LDB3):c.2017G>A (p.Asp673Asn) http://identifiers.org/clinvar/4736 ^@ NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) http://identifiers.org/clinvar/4737 ^@ NM_032043.2(BRIP1):c.897G>A (p.Met299Ile) http://identifiers.org/clinvar/4738 ^@ NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) http://identifiers.org/clinvar/4739 ^@ NM_018389.4(SLC35C1):c.439C>T (p.Arg147Cys) http://identifiers.org/clinvar/4740 ^@ NM_018389.4(SLC35C1):c.923C>G (p.Thr308Arg) http://identifiers.org/clinvar/4741 ^@ NM_001282534.1(KCNK9):c.706G>A (p.Gly236Arg) http://identifiers.org/clinvar/4742 ^@ NM_013391.3(DMGDH):c.326A>G (p.His109Arg) http://identifiers.org/clinvar/4743 ^@ NM_004667.5(HERC2):c.323-4749G>A http://identifiers.org/clinvar/4744 ^@ HERC2, IVS12, C/T http://identifiers.org/clinvar/4745 ^@ NM_004667.5(HERC2):c.13272+874T>C http://identifiers.org/clinvar/4746 ^@ TMC8, 1-BP DEL, 754T http://identifiers.org/clinvar/4747 ^@ NM_152468.4(TMC8):c.1084G>T (p.Glu362Ter) http://identifiers.org/clinvar/4748 ^@ NM_007267.7(TMC6):c.280C>T (p.Arg94Ter) http://identifiers.org/clinvar/4749 ^@ NM_007267.7(TMC6):c.1726G>T (p.Glu576Ter) http://identifiers.org/clinvar/4750 ^@ NM_007267.7(TMC6):c.744C>A (p.Tyr248Ter) http://identifiers.org/clinvar/4751 ^@ NM_007267.7(TMC6):c.892-2A>T http://identifiers.org/clinvar/4752 ^@ NM_016553.4(NUP62):c.1172A>C (p.Gln391Pro) http://identifiers.org/clinvar/4753 ^@ NM_020191.2(MRPS22):c.509G>A (p.Arg170His) http://identifiers.org/clinvar/4754 ^@ NM_014795.3(ZEB2):c.1645A>T (p.Arg549Ter) http://identifiers.org/clinvar/4755 ^@ NM_014795.3(ZEB2):c.2083C>T (p.Arg695Ter) http://identifiers.org/clinvar/4756 ^@ NM_014795.3(ZEB2):c.1173_1176delAACA (p.Thr392Asnfs) http://identifiers.org/clinvar/4757 ^@ NM_014795.3(ZEB2):c.1426dupA (p.Met476Asnfs) http://identifiers.org/clinvar/4758 ^@ NM_014795.3(ZEB2):c.760_761dupAC (p.Gln255Profs) http://identifiers.org/clinvar/4759 ^@ NM_014795.3(ZEB2):c.2453dupT (p.Leu818Phefs) http://identifiers.org/clinvar/4760 ^@ NM_014795.3(ZEB2):c.1892delA (p.Asn631Ilefs) http://identifiers.org/clinvar/4761 ^@ NM_014795.3(ZEB2):c.553_554insTG (p.Arg185Leufs) http://identifiers.org/clinvar/4762 ^@ NM_014795.3(ZEB2):c.2555C>G (p.Ser852Ter) http://identifiers.org/clinvar/4763 ^@ NM_014795.3(ZEB2):c.3566_3567dupCC (p.Met1190Profs) http://identifiers.org/clinvar/4764 ^@ NM_014795.3(ZEB2):c.298_300delAAC (p.Asn100del) http://identifiers.org/clinvar/4765 ^@ NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del http://identifiers.org/clinvar/4766 ^@ NM_014795.3(ZEB2):c.1862delT (p.Val621Alafs) http://identifiers.org/clinvar/4767 ^@ NM_014795.3(ZEB2):c.-69-1G>A http://identifiers.org/clinvar/4768 ^@ NM_014795.3(ZEB2):c.3356A>G (p.Gln1119Arg) http://identifiers.org/clinvar/4769 ^@ AMN, 1-BP DEL, 14G http://identifiers.org/clinvar/4770 ^@ NM_030943.3(AMN):c.122C>T (p.Thr41Ile) http://identifiers.org/clinvar/4771 ^@ AMN, IVS3, A-G, -2 http://identifiers.org/clinvar/4772 ^@ NM_017429.2(BCO1):c.509C>T (p.Thr170Met) http://identifiers.org/clinvar/4773 ^@ NM_015627.2(LDLRAP1):c.65G>A (p.Trp22Ter) http://identifiers.org/clinvar/4774 ^@ LDLRAP1, 1-BP INS, 432A http://identifiers.org/clinvar/4775 ^@ NM_015627.2(LDLRAP1):c.406C>T (p.Gln136Ter) http://identifiers.org/clinvar/4776 ^@ NM_015627.2(LDLRAP1):c.605C>A (p.Ser202Tyr) http://identifiers.org/clinvar/4777 ^@ LDLRAP1, 1-BP INS, 72G http://identifiers.org/clinvar/4778 ^@ LDLRAP1, 1-BP DEL, 71G http://identifiers.org/clinvar/4779 ^@ LDLRAP1, IVS1AS, G-C, -1 http://identifiers.org/clinvar/4780 ^@ LDLRAP1, IVS4DS, T-G, +2 http://identifiers.org/clinvar/4781 ^@ LDLRAP1, 1-BP INS, 599C http://identifiers.org/clinvar/4782 ^@ NM_018943.2(TUBA8):c.4-21_4-8delGTTGCTTCCCTCTC http://identifiers.org/clinvar/4783 ^@ NM_025237.2(SOST):c.70C>T (p.Gln24Ter) http://identifiers.org/clinvar/4784 ^@ SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67 http://identifiers.org/clinvar/4785 ^@ NM_025237.2(SOST):c.372G>A (p.Trp124Ter) http://identifiers.org/clinvar/4786 ^@ NM_025237.2(SOST):c.376C>T (p.Arg126Ter) http://identifiers.org/clinvar/4787 ^@ NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) http://identifiers.org/clinvar/4788 ^@ PRX, 1-BP DEL, 2787C http://identifiers.org/clinvar/4789 ^@ NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) http://identifiers.org/clinvar/4790 ^@ PRX, 1-BP DEL, 2289T http://identifiers.org/clinvar/4791 ^@ NM_181882.2(PRX):c.586C>T (p.Arg196Ter) http://identifiers.org/clinvar/4792 ^@ NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) http://identifiers.org/clinvar/4793 ^@ PRX, 1-BP DEL, 247C http://identifiers.org/clinvar/4794 ^@ NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) http://identifiers.org/clinvar/4795 ^@ PRX, 10-BP INS, NT394 http://identifiers.org/clinvar/4796 ^@ PRX, 4-BP DEL, 1194TTCC http://identifiers.org/clinvar/4797 ^@ NM_004863.3(SPTLC2):c.1145G>T (p.Gly382Val) http://identifiers.org/clinvar/4798 ^@ NM_004863.3(SPTLC2):c.1075G>A (p.Val359Met) http://identifiers.org/clinvar/4799 ^@ NM_004863.3(SPTLC2):c.1510A>T (p.Ile504Phe) http://identifiers.org/clinvar/4800 ^@ NM_006415.3(SPTLC1):c.398G>A (p.Cys133Tyr) http://identifiers.org/clinvar/4801 ^@ NM_006415.3(SPTLC1):c.431T>A (p.Val144Asp) http://identifiers.org/clinvar/4802 ^@ NM_006415.3(SPTLC1):c.1160G>C (p.Gly387Ala) http://identifiers.org/clinvar/4803 ^@ NM_006415.3(SPTLC1):c.399T>G (p.Cys133Trp) http://identifiers.org/clinvar/4804 ^@ NM_006415.3(SPTLC1):c.992C>T (p.Ser331Phe) http://identifiers.org/clinvar/4805 ^@ NM_006415.3(SPTLC1):c.1055C>T (p.Ala352Val) http://identifiers.org/clinvar/4806 ^@ NM_004738.4(VAPB):c.166C>T (p.Pro56Ser) http://identifiers.org/clinvar/4807 ^@ NM_017672.5(TRPM7):c.4445C>T (p.Thr1482Ile) http://identifiers.org/clinvar/4808 ^@ NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) http://identifiers.org/clinvar/4809 ^@ NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) http://identifiers.org/clinvar/4810 ^@ NM_012179.3(FBXO7):c.1144+1G>T http://identifiers.org/clinvar/4811 ^@ NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) http://identifiers.org/clinvar/4812 ^@ NM_000441.1(SLC26A4):c.2000T>G (p.Phe667Cys) http://identifiers.org/clinvar/4813 ^@ SLC26A4, 1-BP DEL, 1565G http://identifiers.org/clinvar/4814 ^@ SLC26A4, 1-BP DEL, 1421T http://identifiers.org/clinvar/4815 ^@ SLC26A4, 1-BP DEL, 917T http://identifiers.org/clinvar/43510 ^@ NM_000441.1(SLC26A4):c.1489G>A (p.Gly497Ser) http://identifiers.org/clinvar/4817 ^@ NM_000441.1(SLC26A4):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/4818 ^@ NM_000441.1(SLC26A4):c.1246A>C (p.Thr416Pro) http://identifiers.org/clinvar/4819 ^@ NM_000441.1(SLC26A4):c.1001+1G>A http://identifiers.org/clinvar/4820 ^@ NM_000441.1(SLC26A4):c.1151A>G (p.Glu384Gly) http://identifiers.org/clinvar/4821 ^@ NM_000441.1(SLC26A4):c.626G>T (p.Gly209Val) http://identifiers.org/clinvar/4822 ^@ NM_000441.1(SLC26A4):c.1105A>G (p.Lys369Glu) http://identifiers.org/clinvar/4823 ^@ NM_000441.1(SLC26A4):c.1115C>T (p.Ala372Val) http://identifiers.org/clinvar/4824 ^@ SLC26A4, 5-BP INS, NT2111 http://identifiers.org/clinvar/4825 ^@ NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg) http://identifiers.org/clinvar/4826 ^@ NM_000441.1(SLC26A4):c.2162C>T (p.Thr721Met) http://identifiers.org/clinvar/4827 ^@ SLC26A4, 1-BP DEL, 279T http://identifiers.org/clinvar/4828 ^@ SLC26A4, IVS4DS, A-G, +7 http://identifiers.org/clinvar/4829 ^@ NM_000441.1(SLC26A4):c.1334T>G (p.Leu445Trp) http://identifiers.org/clinvar/4830 ^@ NM_000441.1(SLC26A4):c.578C>T (p.Thr193Ile) http://identifiers.org/clinvar/4831 ^@ SLC26A4, 1-BP DEL, 1197T http://identifiers.org/clinvar/4832 ^@ SLC26A4, 1-BP INS, 2182G http://identifiers.org/clinvar/4833 ^@ SLC26A4, IVS8, C-G, 1002-4 http://identifiers.org/clinvar/4834 ^@ NM_000441.1(SLC26A4):c.397T>A (p.Ser133Thr) http://identifiers.org/clinvar/4835 ^@ NM_000441.1(SLC26A4):c.412G>T (p.Val138Phe) http://identifiers.org/clinvar/4836 ^@ NM_000441.1(SLC26A4):c.1588T>C (p.Tyr530His) http://identifiers.org/clinvar/4838 ^@ NM_000441.1(SLC26A4):c.-103T>C http://identifiers.org/clinvar/4839 ^@ NM_000441.1(SLC26A4):c.85G>C (p.Glu29Gln) http://identifiers.org/clinvar/4840 ^@ NM_000441.1(SLC26A4):c.919-2A>G http://identifiers.org/clinvar/4841 ^@ NM_000441.1(SLC26A4):c.1540C>A (p.Gln514Lys) http://identifiers.org/clinvar/4842 ^@ NM_000441.1(SLC26A4):c.1003T>C (p.Phe335Leu) http://identifiers.org/clinvar/4843 ^@ NM_006416.4(SLC35A1):c.752-157_752-156insCTCA http://identifiers.org/clinvar/4844 ^@ SLC35A1, 2-BP DEL, 277G AND 281C, AND 147T-C http://identifiers.org/clinvar/4845 ^@ NM_020208.3(SLC6A20):c.596C>T (p.Thr199Met) http://identifiers.org/clinvar/4846 ^@ NM_007254.3(PNKP):c.976G>A (p.Glu326Lys) http://identifiers.org/clinvar/4847 ^@ NM_007254.3(PNKP):c.1253_1269dupGGGTCGCCATCGACAAC (p.Thr424Glyfs) http://identifiers.org/clinvar/4848 ^@ NM_007254.3(PNKP):c.526C>T (p.Leu176Phe) http://identifiers.org/clinvar/4850 ^@ NM_012130.3(CLDN14):c.398delT (p.Met133Argfs) http://identifiers.org/clinvar/4851 ^@ NM_012130.3(CLDN14):c.254T>A (p.Val85Asp) http://identifiers.org/clinvar/4852 ^@ NM_001146077.1(CLDN14):c.301G>A (p.Gly101Arg) http://identifiers.org/clinvar/4853 ^@ NM_023067.3(FOXL2):c.655C>T (p.Gln219Ter) http://identifiers.org/clinvar/4854 ^@ NM_023067.3(FOXL2):c.672_701dup30 (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/4855 ^@ NM_023067.3(FOXL2):c.53_54delCA (p.Pro18Argfs) http://identifiers.org/clinvar/4856 ^@ NM_023067.3(FOXL2):c.912_919dupACCGCCGC (p.Pro307Hisfs) http://identifiers.org/clinvar/4857 ^@ NM_023067.3(FOXL2):c.178_192dupGTGGCGCTCATCGCC (p.Ala64_Met65insValAlaLeuIleAla) http://identifiers.org/clinvar/4858 ^@ NM_023067.3(FOXL2):c.804dupC (p.Gly269Argfs) http://identifiers.org/clinvar/4859 ^@ NM_023067.3(FOXL2):c.855_871del17 (p.Pro287Alafs) http://identifiers.org/clinvar/4860 ^@ NM_023067.3(FOXL2):c.157C>T (p.Gln53Ter) http://identifiers.org/clinvar/4861 ^@ NM_023067.3(FOXL2):c.822C>G (p.Tyr274Ter) http://identifiers.org/clinvar/4862 ^@ NM_023067.3(FOXL2):c.684_698[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/4863 ^@ NM_023067.3(FOXL2):c.251T>G (p.Ile84Ser) http://identifiers.org/clinvar/4864 ^@ NM_023067.3(FOXL2):c.295C>T (p.Gln99Ter) http://identifiers.org/clinvar/4865 ^@ NM_023067.3(FOXL2):c.586C>T (p.Gln196Ter) http://identifiers.org/clinvar/4866 ^@ NM_023067.3(FOXL2):c.855_871dup17 (p.His291Argfs) http://identifiers.org/clinvar/4867 ^@ NM_023067.3(FOXL2):c.959dupG (p.Gln321Profs) http://identifiers.org/clinvar/4868 ^@ FOXL2, 30-BP DEL, NT898 http://identifiers.org/clinvar/4869 ^@ NM_023067.3(FOXL2):c.772T>A (p.Tyr258Asn) http://identifiers.org/clinvar/4870 ^@ FOXL2, 15-BP DUP, NT684 http://identifiers.org/clinvar/4871 ^@ NM_023067.3(FOXL2):c.560G>A (p.Gly187Asp) http://identifiers.org/clinvar/4872 ^@ NM_000197.1(HSD17B3):c.695C>T (p.Ser232Leu) http://identifiers.org/clinvar/4873 ^@ NM_000197.1(HSD17B3):c.703A>G (p.Met235Val) http://identifiers.org/clinvar/4874 ^@ NM_000197.1(HSD17B3):c.239G>A (p.Arg80Gln) http://identifiers.org/clinvar/4875 ^@ NM_000197.1(HSD17B3):c.608C>T (p.Ala203Val) http://identifiers.org/clinvar/4876 ^@ HSD17B3, IVS3AS, G-C, -1 http://identifiers.org/clinvar/4877 ^@ NM_000197.1(HSD17B3):c.238C>T (p.Arg80Trp) http://identifiers.org/clinvar/4878 ^@ NM_000197.1(HSD17B3):c.607-1G>A http://identifiers.org/clinvar/4879 ^@ NM_000197.1(HSD17B3):c.166G>A (p.Ala56Thr) http://identifiers.org/clinvar/4880 ^@ NM_000197.1(HSD17B3):c.389A>G (p.Asn130Ser) http://identifiers.org/clinvar/4881 ^@ NM_000197.1(HSD17B3):c.803G>A (p.Cys268Tyr) http://identifiers.org/clinvar/4882 ^@ NM_023004.5(RTN4R):c.355C>T (p.Arg119Trp) http://identifiers.org/clinvar/4883 ^@ NM_023004.5(RTN4R):c.587G>A (p.Arg196His) http://identifiers.org/clinvar/4884 ^@ RETN, +62G-A http://identifiers.org/clinvar/4885 ^@ NM_019851.2(FGF20):c.*182C>T http://identifiers.org/clinvar/4886 ^@ NM_003977.3(AIP):c.40C>T (p.Gln14Ter) http://identifiers.org/clinvar/4887 ^@ NM_003977.3(AIP):c.469-1G>A http://identifiers.org/clinvar/4888 ^@ NM_003977.3(AIP):c.910C>T (p.Arg304Ter) http://identifiers.org/clinvar/4889 ^@ NM_003977.3(AIP):c.66_71delAGGAGA (p.Gly23_Glu24del) http://identifiers.org/clinvar/4890 ^@ NM_003977.3(AIP):c.824dupA (p.His275Glnfs) http://identifiers.org/clinvar/4891 ^@ NM_003977.3(AIP):c.542delT (p.Ile182Serfs) http://identifiers.org/clinvar/4892 ^@ NM_003977.3(AIP):c.804C>A (p.Tyr268Ter) http://identifiers.org/clinvar/4893 ^@ NM_003977.3(AIP):c.911G>A (p.Arg304Gln) http://identifiers.org/clinvar/4894 ^@ NM_003977.3(AIP):c.64C>T (p.Arg22Ter) http://identifiers.org/clinvar/4895 ^@ NM_016382.3(CD244):c.834+526A>G http://identifiers.org/clinvar/4896 ^@ NM_022458.3(LMBR1):c.180-2465_319+2696del http://identifiers.org/clinvar/4897 ^@ NM_022458.3(LMBR1):c.423+4618C>G http://identifiers.org/clinvar/4898 ^@ NM_022458.3(LMBR1):c.423+4917G>A http://identifiers.org/clinvar/4899 ^@ NM_022458.3(LMBR1):c.423+4818A>T http://identifiers.org/clinvar/4900 ^@ NM_022458.3(LMBR1):c.423+4842T>C http://identifiers.org/clinvar/4901 ^@ NG_009240.1:g.(71605_101850)_(134420_151298)dup http://identifiers.org/clinvar/4902 ^@ NM_022458.3(LMBR1):c.423+5252A>G http://identifiers.org/clinvar/4903 ^@ NM_022458.3(LMBR1):c.423+5134C>G http://identifiers.org/clinvar/4904 ^@ LMBR1, 589-KB DUP, IVS5 http://identifiers.org/clinvar/4905 ^@ LMBR1, 235-KB DUP, IVS5 http://identifiers.org/clinvar/4906 ^@ NM_022458.3(LMBR1):c.423+4808T>C http://identifiers.org/clinvar/4907 ^@ NM_022458.3(LMBR1):c.423+4909C>T http://identifiers.org/clinvar/4908 ^@ NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) http://identifiers.org/clinvar/4909 ^@ NM_014646.2(LPIN2):c.540_541delAT (p.Cys181Terfs) http://identifiers.org/clinvar/4910 ^@ NM_145693.3(LPIN1):c.643G>T (p.Glu215Ter) http://identifiers.org/clinvar/4911 ^@ NM_145693.3(LPIN1):c.1162C>T (p.Arg388Ter) http://identifiers.org/clinvar/4912 ^@ NM_145693.3(LPIN1):c.2401C>T (p.Arg801Ter) http://identifiers.org/clinvar/4913 ^@ NM_145693.2(LPIN1):c.2295-?_2513+?del http://identifiers.org/clinvar/4914 ^@ NM_145693.3(LPIN1):c.1441+2T>C http://identifiers.org/clinvar/4915 ^@ NM_022124.5(CDH23):c.4488G>C (p.Gln1496His) http://identifiers.org/clinvar/4916 ^@ NM_022124.5(CDH23):c.5237G>A (p.Arg1746Gln) http://identifiers.org/clinvar/4917 ^@ NM_022124.5(CDH23):c.3842_3844delTGA (p.Met1281del) http://identifiers.org/clinvar/4918 ^@ NM_022124.5(CDH23):c.7362+5G>A http://identifiers.org/clinvar/4919 ^@ NM_022124.5(CDH23):c.6133G>A (p.Asp2045Asn) http://identifiers.org/clinvar/4920 ^@ NM_022124.5(CDH23):c.6604G>A (p.Asp2202Asn) http://identifiers.org/clinvar/4921 ^@ NM_022124.5(CDH23):c.3880C>T (p.Gln1294Ter) http://identifiers.org/clinvar/4922 ^@ NM_022124.5(CDH23):c.6442G>A (p.Asp2148Asn) http://identifiers.org/clinvar/4923 ^@ NM_022124.5(CDH23):c.4021G>A (p.Asp1341Asn) http://identifiers.org/clinvar/4924 ^@ NM_022124.5(CDH23):c.5663T>C (p.Phe1888Ser) http://identifiers.org/clinvar/4925 ^@ NM_022124.5(CDH23):c.193delC (p.Leu65Trpfs) http://identifiers.org/clinvar/4926 ^@ NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp) http://identifiers.org/clinvar/4927 ^@ NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala) http://identifiers.org/clinvar/4928 ^@ NM_022124.5(CDH23):c.719C>T (p.Pro240Leu) http://identifiers.org/clinvar/4929 ^@ NM_022124.5(CDH23):c.902G>A (p.Arg301Gln) http://identifiers.org/clinvar/4930 ^@ PCDH15, IVS27, A-G, -2 http://identifiers.org/clinvar/4931 ^@ NM_033056.3(PCDH15):c.7C>T (p.Arg3Ter) http://identifiers.org/clinvar/4932 ^@ NM_033056.3(PCDH15):c.1086delT (p.Leu363Trpfs) http://identifiers.org/clinvar/4933 ^@ NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) http://identifiers.org/clinvar/4934 ^@ PCDH15, 3-BP DEL, 5601AAC http://identifiers.org/clinvar/4935 ^@ NM_033056.3(PCDH15):c.785G>A (p.Gly262Asp) http://identifiers.org/clinvar/4936 ^@ NM_033056.3(PCDH15):c.400C>G (p.Arg134Gly) http://identifiers.org/clinvar/4937 ^@ PCDH15, 1-BP DEL, 16T http://identifiers.org/clinvar/4938 ^@ NM_033056.3(PCDH15):c.1940C>G (p.Ser647Ter) http://identifiers.org/clinvar/4939 ^@ ELOVL4, 5-BP DEL, NT797 http://identifiers.org/clinvar/4940 ^@ NM_022726.3(ELOVL4):c.789_793delTAACTinsAAC (p.Asn264Thrfs) http://identifiers.org/clinvar/4941 ^@ NM_022726.3(ELOVL4):c.810C>G (p.Tyr270Ter) http://identifiers.org/clinvar/4942 ^@ TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS http://identifiers.org/clinvar/4943 ^@ TMPRSS3, IVS4AS, G-A, -6 http://identifiers.org/clinvar/4944 ^@ NM_024022.2(TMPRSS3):c.753G>C (p.Trp251Cys) http://identifiers.org/clinvar/4945 ^@ NM_024022.2(TMPRSS3):c.1211C>T (p.Pro404Leu) http://identifiers.org/clinvar/4946 ^@ NM_024022.2(TMPRSS3):c.647G>T (p.Arg216Leu) http://identifiers.org/clinvar/4947 ^@ CRTAP, IVS1, -1021C-G http://identifiers.org/clinvar/4948 ^@ CRTAP, 1-BP DEL, 879T http://identifiers.org/clinvar/4949 ^@ CRTAP, IVS1, G-C, +1 http://identifiers.org/clinvar/4950 ^@ NM_006371.4(CRTAP):c.826C>T (p.Gln276Ter) http://identifiers.org/clinvar/4951 ^@ NM_006371.4(CRTAP):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/4952 ^@ CRTAP, 16-BP DUP http://identifiers.org/clinvar/4953 ^@ DNAI2, IVS11DS, G-A, +1 http://identifiers.org/clinvar/4954 ^@ NM_023036.4(DNAI2):c.346-3T>G (p.Ile116GlyfsTer54) http://identifiers.org/clinvar/4955 ^@ NM_023036.4(DNAI2):c.787C>T (p.Arg263Ter) http://identifiers.org/clinvar/4956 ^@ NM_018136.4(ASPM):c.719_720delCT (p.Ser240Cysfs) http://identifiers.org/clinvar/4958 ^@ NM_018136.4(ASPM):c.7761T>G (p.Tyr2587Ter) http://identifiers.org/clinvar/4959 ^@ NM_018136.4(ASPM):c.9159delA (p.Lys3053Asnfs) http://identifiers.org/clinvar/4960 ^@ NM_018136.4(ASPM):c.9178C>T (p.Gln3060Ter) http://identifiers.org/clinvar/4961 ^@ NM_018136.4(ASPM):c.3978G>A (p.Trp1326Ter) http://identifiers.org/clinvar/4962 ^@ NM_018136.4(ASPM):c.349C>T (p.Arg117Ter) http://identifiers.org/clinvar/4963 ^@ NM_018136.4(ASPM):c.6189T>G (p.Tyr2063Ter) http://identifiers.org/clinvar/4964 ^@ NM_018136.4(ASPM):c.4195dupA (p.Thr1399Asnfs) http://identifiers.org/clinvar/4965 ^@ NM_018136.4(ASPM):c.2389C>T (p.Arg797Ter) http://identifiers.org/clinvar/4966 ^@ ASPM, 2-BP DEL, 7781AG http://identifiers.org/clinvar/4967 ^@ NM_022437.2(ABCG8):c.1083G>A (p.Trp361Ter) http://identifiers.org/clinvar/4968 ^@ NM_022437.2(ABCG8):c.1720G>A (p.Gly574Arg) http://identifiers.org/clinvar/4969 ^@ NM_022437.2(ABCG8):c.1974C>G (p.Tyr658Ter) http://identifiers.org/clinvar/4970 ^@ NM_022437.2(ABCG8):c.788G>A (p.Arg263Gln) http://identifiers.org/clinvar/4971 ^@ NM_022437.2(ABCG8):c.547delC (p.Gln183Serfs) http://identifiers.org/clinvar/4972 ^@ NM_022437.2(ABCG8):c.1234C>T (p.Arg412Ter) http://identifiers.org/clinvar/4973 ^@ NM_022437.2(ABCG8):c.1787T>G (p.Leu596Arg) http://identifiers.org/clinvar/4974 ^@ NM_022437.2(ABCG8):c.691C>A (p.Pro231Thr) http://identifiers.org/clinvar/4975 ^@ NM_022437.2(ABCG8):c.55G>C (p.Asp19His) http://identifiers.org/clinvar/4976 ^@ NM_022436.2(ABCG5):c.1222C>T (p.Arg408Ter) http://identifiers.org/clinvar/4977 ^@ NM_022436.2(ABCG5):c.727C>T (p.Arg243Ter) http://identifiers.org/clinvar/4978 ^@ NM_022436.2(ABCG5):c.1256G>A (p.Arg419His) http://identifiers.org/clinvar/4979 ^@ NM_022436.2(ABCG5):c.1256G>C (p.Arg419Pro) http://identifiers.org/clinvar/4980 ^@ NM_022436.2(ABCG5):c.1166G>A (p.Arg389His) http://identifiers.org/clinvar/4981 ^@ NM_022436.2(ABCG5):c.229G>T (p.Glu77Ter) http://identifiers.org/clinvar/4982 ^@ RPGRIP1, 1-BP DEL, ASP1176 http://identifiers.org/clinvar/4983 ^@ NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) http://identifiers.org/clinvar/4984 ^@ RPGRIP1, 1-BP INS, GLN893 http://identifiers.org/clinvar/4985 ^@ RPGRIP1, 1-BP DEL, LYS342 http://identifiers.org/clinvar/4986 ^@ NM_020366.3(RPGRIP1):c.2480G>T (p.Arg827Leu) http://identifiers.org/clinvar/4987 ^@ NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) http://identifiers.org/clinvar/4988 ^@ NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) http://identifiers.org/clinvar/4989 ^@ RPGRIP1, 3-BP DEL, 3835GAG http://identifiers.org/clinvar/4990 ^@ NM_001177800.1(ADIPOQ):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/4991 ^@ NM_006255.4(PRKCH):c.1120G>A (p.Val374Ile) http://identifiers.org/clinvar/4992 ^@ NM_021625.4(TRPV4):c.1847G>A (p.Arg616Gln) http://identifiers.org/clinvar/4993 ^@ NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) http://identifiers.org/clinvar/4994 ^@ NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) http://identifiers.org/clinvar/4995 ^@ NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly) http://identifiers.org/clinvar/4996 ^@ NM_021625.4(TRPV4):c.2146G>T (p.Ala716Ser) http://identifiers.org/clinvar/4997 ^@ NM_021625.4(TRPV4):c.991A>T (p.Ile331Phe) http://identifiers.org/clinvar/4998 ^@ NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) http://identifiers.org/clinvar/4999 ^@ NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) http://identifiers.org/clinvar/5000 ^@ NM_021625.4(TRPV4):c.806G>A (p.Arg269His) http://identifiers.org/clinvar/5001 ^@ NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) http://identifiers.org/clinvar/5002 ^@ NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) http://identifiers.org/clinvar/5003 ^@ NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) http://identifiers.org/clinvar/5004 ^@ NM_153212.2(GJB4):c.409T>C (p.Phe137Leu) http://identifiers.org/clinvar/5005 ^@ NM_153212.2(GJB4):c.411C>A (p.Phe137Leu) http://identifiers.org/clinvar/5006 ^@ NM_153212.2(GJB4):c.253A>C (p.Thr85Pro) http://identifiers.org/clinvar/5007 ^@ NM_153212.2(GJB4):c.35G>A (p.Gly12Asp) http://identifiers.org/clinvar/5008 ^@ NM_153212.2(GJB4):c.65G>A (p.Arg22His) http://identifiers.org/clinvar/5009 ^@ NM_153212.2(GJB4):c.566T>A (p.Phe189Tyr) http://identifiers.org/clinvar/5010 ^@ NM_021044.3(DHH):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/5011 ^@ NM_021044.3(DHH):c.485T>C (p.Leu162Pro) http://identifiers.org/clinvar/5012 ^@ DHH, 1-BP DEL, 1086G http://identifiers.org/clinvar/5013 ^@ NM_021926.3(ALX4):c.418C>T (p.Gln140Ter) http://identifiers.org/clinvar/5014 ^@ NM_021926.3(ALX4):c.736C>T (p.Gln246Ter) http://identifiers.org/clinvar/5015 ^@ NM_021926.3(ALX4):c.653G>A (p.Arg218Gln) http://identifiers.org/clinvar/5016 ^@ NM_021926.3(ALX4):c.504delT (p.Asp169Thrfs) http://identifiers.org/clinvar/5017 ^@ NM_021926.3(ALX4):c.815G>C (p.Arg272Pro) http://identifiers.org/clinvar/5018 ^@ NM_021926.3(ALX4):c.620C>A (p.Ser207Ter) http://identifiers.org/clinvar/5019 ^@ NM_021926.3(ALX4):c.385_394delTGCAAGACGC (p.Cys129Profs) http://identifiers.org/clinvar/5020 ^@ NM_021926.3(ALX4):c.793C>T (p.Arg265Ter) http://identifiers.org/clinvar/5021 ^@ NM_004897.4(MINPP1):c.122C>T (p.Ser41Leu) http://identifiers.org/clinvar/5022 ^@ NM_004897.4(MINPP1):c.809A>G (p.Gln270Arg) http://identifiers.org/clinvar/5023 ^@ MINPP1, IVS3, T-A, +34 http://identifiers.org/clinvar/5024 ^@ IL21R, -83T-C http://identifiers.org/clinvar/5025 ^@ NM_020638.2(FGF23):c.527G>A (p.Arg176Gln) http://identifiers.org/clinvar/5026 ^@ NM_020638.2(FGF23):c.535C>T (p.Arg179Trp) http://identifiers.org/clinvar/5027 ^@ NM_020638.2(FGF23):c.211A>G (p.Ser71Gly) http://identifiers.org/clinvar/5028 ^@ NM_020638.2(FGF23):c.287T>C (p.Met96Thr) http://identifiers.org/clinvar/5029 ^@ NM_020638.2(FGF23):c.386C>T (p.Ser129Phe) http://identifiers.org/clinvar/5030 ^@ NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) http://identifiers.org/clinvar/5031 ^@ NM_022041.3(GAN):c.1447C>T (p.Gln483Ter) http://identifiers.org/clinvar/5032 ^@ GAN, 1-BP INS, 18A http://identifiers.org/clinvar/5033 ^@ NM_022041.3(GAN):c.601C>T (p.Arg201Ter) http://identifiers.org/clinvar/5034 ^@ NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) http://identifiers.org/clinvar/5035 ^@ NM_022041.3(GAN):c.413G>A (p.Arg138His) http://identifiers.org/clinvar/5036 ^@ NM_022041.3(GAN):c.43C>A (p.Arg15Ser) http://identifiers.org/clinvar/5037 ^@ NM_022041.3(GAN):c.1429C>T (p.Arg477Ter) http://identifiers.org/clinvar/5038 ^@ NM_022041.3(GAN):c.505G>A (p.Glu169Lys) http://identifiers.org/clinvar/5039 ^@ NM_015665.5(AAAS):c.934C>T (p.Arg312Ter) http://identifiers.org/clinvar/5040 ^@ NM_015665.5(AAAS):c.1432C>T (p.Arg478Ter) http://identifiers.org/clinvar/5041 ^@ NM_015665.5(AAAS):c.980dupT (p.Ser328Ilefs) http://identifiers.org/clinvar/5042 ^@ AAAS, IVS4AS, A-G, -2 http://identifiers.org/clinvar/5043 ^@ AAAS, IVS14DS, G-A, +1 http://identifiers.org/clinvar/5044 ^@ NM_015665.5(AAAS):c.43C>A (p.Gln15Lys) http://identifiers.org/clinvar/5045 ^@ NM_015665.5(AAAS):c.787T>C (p.Ser263Pro) http://identifiers.org/clinvar/5046 ^@ AAAS, IVS11DS, G-A, +1 http://identifiers.org/clinvar/5047 ^@ NM_015665.5(AAAS):c.1288C>T (p.Leu430Phe) http://identifiers.org/clinvar/5048 ^@ AAAS, 251G-A http://identifiers.org/clinvar/5049 ^@ NM_001081560.2(DMPK):c.*224_*226CTG(51_?) http://identifiers.org/clinvar/5050 ^@ NM_006420.2(ARFGEF2):c.625G>A (p.Glu209Lys) http://identifiers.org/clinvar/5051 ^@ ARFGEF2, PRO81GLN, VAL83LEU, 249delA http://identifiers.org/clinvar/5052 ^@ NM_015071.5(ARHGAP26):c.1250A>G (p.Asn417Ser) http://identifiers.org/clinvar/5053 ^@ ARHGAP26, 52-BP INS http://identifiers.org/clinvar/5054 ^@ ARHGAP26, 74-BP INS http://identifiers.org/clinvar/5055 ^@ NM_018127.6(ELAC2):c.650C>T (p.Ser217Leu) http://identifiers.org/clinvar/5056 ^@ NM_018127.6(ELAC2):c.1621G>A (p.Ala541Thr) http://identifiers.org/clinvar/5057 ^@ NM_018127.6(ELAC2):c.1641dupG (p.His548Alafs) http://identifiers.org/clinvar/5058 ^@ NM_018127.6(ELAC2):c.2342G>A (p.Arg781His) http://identifiers.org/clinvar/5059 ^@ NM_018127.6(ELAC2):c.1865A>T (p.Glu622Val) http://identifiers.org/clinvar/5060 ^@ NM_000817.2(GAD1):c.35C>G (p.Ser12Cys) http://identifiers.org/clinvar/5061 ^@ NM_001134944.1(GHRL):c.116G>A (p.Arg39Gln) http://identifiers.org/clinvar/5062 ^@ NM_001134944.1(GHRL):c.178C>A (p.Leu60Met) http://identifiers.org/clinvar/5063 ^@ NM_001134944.1(GHRL):c.233A>T (p.Gln78Leu) http://identifiers.org/clinvar/5064 ^@ GHRL, 2-BP DEL, CODON 34 http://identifiers.org/clinvar/5065 ^@ NC_000001.11:g.(196753076_?)_(?_196839375)del http://identifiers.org/clinvar/5066 ^@ CYP3A5, 6986A-G http://identifiers.org/clinvar/5067 ^@ NM_014491.3(FOXP2):c.1658G>A (p.Arg553His) http://identifiers.org/clinvar/5068 ^@ NM_014491.3(FOXP2):c.982C>T (p.Arg328Ter) http://identifiers.org/clinvar/5069 ^@ HDAC4, 1-BP INS, 2399C http://identifiers.org/clinvar/5070 ^@ HDAC4, 65-BP DEL, NT490+56 http://identifiers.org/clinvar/5071 ^@ NM_021615.4(CHST6):c.521A>G (p.Lys174Arg) http://identifiers.org/clinvar/5072 ^@ NM_021615.4(CHST6):c.609C>A (p.Asp203Glu) http://identifiers.org/clinvar/5073 ^@ CHST6, REPLACEMENT OF 5-PRIME REGION http://identifiers.org/clinvar/5074 ^@ CHST6, DELETION OF 5-PRIME REGION http://identifiers.org/clinvar/5075 ^@ NM_021615.4(CHST6):c.599T>G (p.Leu200Arg) http://identifiers.org/clinvar/5076 ^@ NM_021615.4(CHST6):c.304T>G (p.Cys102Gly) http://identifiers.org/clinvar/5077 ^@ NM_021615.4(CHST6):c.329A>G (p.Tyr110Cys) http://identifiers.org/clinvar/5078 ^@ NM_021615.4(CHST6):c.827T>C (p.Leu276Pro) http://identifiers.org/clinvar/5079 ^@ NM_021615.4(CHST6):c.277C>A (p.Arg93Ser) http://identifiers.org/clinvar/5080 ^@ NM_015560.2(OPA1):c.899G>A (p.Gly300Glu) http://identifiers.org/clinvar/5081 ^@ NM_015560.2(OPA1):c.985-1G>A http://identifiers.org/clinvar/5082 ^@ NM_015560.2(OPA1):c.2708_2711delTTAG (p.Val903Glyfs) http://identifiers.org/clinvar/5083 ^@ NM_015560.2(OPA1):c.2825_2828delTTAG (p.Val942Glufs) http://identifiers.org/clinvar/5084 ^@ NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) http://identifiers.org/clinvar/5085 ^@ NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) http://identifiers.org/clinvar/5086 ^@ NM_015560.2(OPA1):c.1296_1298delCAT (p.Ile433del) http://identifiers.org/clinvar/5087 ^@ NM_015560.2(OPA1):c.1354delG (p.Val452Serfs) http://identifiers.org/clinvar/5088 ^@ NM_015560.2(OPA1):c.2826delT (p.Arg943Glufs) http://identifiers.org/clinvar/375732 ^@ NM_015560.2(OPA1):c.870+4T= http://identifiers.org/clinvar/5090 ^@ NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) http://identifiers.org/clinvar/5091 ^@ NM_015560.2(OPA1):c.1334G>A (p.Arg445His) http://identifiers.org/clinvar/5092 ^@ NM_015560.2(OPA1):c.2848_2849delGA (p.Asp950Cysfs) http://identifiers.org/clinvar/5093 ^@ NM_023083.3(CAPN10):c.471-176G>A http://identifiers.org/clinvar/5094 ^@ NG_011558.2:g.13130_13161dup32 http://identifiers.org/clinvar/5095 ^@ NC_000002.12:g.240603286C>T http://identifiers.org/clinvar/5096 ^@ CAPN10, IVS3, g.4841T-C http://identifiers.org/clinvar/5097 ^@ NM_000368.4(TSC1):c.1888_1891delAAAG (p.Lys630Glnfs) http://identifiers.org/clinvar/5098 ^@ NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) http://identifiers.org/clinvar/5099 ^@ NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) http://identifiers.org/clinvar/5100 ^@ NM_000368.4(TSC1):c.1904_1905delCA (p.Thr635Argfs) http://identifiers.org/clinvar/5102 ^@ NM_000368.4(TSC1):c.495C>A (p.Cys165Ter) http://identifiers.org/clinvar/5103 ^@ NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) http://identifiers.org/clinvar/5104 ^@ NM_000368.4(TSC1):c.671T>G (p.Met224Arg) http://identifiers.org/clinvar/5105 ^@ NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) http://identifiers.org/clinvar/5106 ^@ NM_001100607.2(SERPINA10):c.972G>A (p.Trp324Ter) http://identifiers.org/clinvar/5107 ^@ NM_000199.3(SGSH):c.734G>A (p.Arg245His) http://identifiers.org/clinvar/5108 ^@ NM_000199.3(SGSH):c.220C>T (p.Arg74Cys) http://identifiers.org/clinvar/5109 ^@ NM_000199.3(SGSH):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/5110 ^@ NM_000199.3(SGSH):c.383C>T (p.Pro128Leu) http://identifiers.org/clinvar/5111 ^@ NM_000199.3(SGSH):c.197C>G (p.Ser66Trp) http://identifiers.org/clinvar/5112 ^@ SGSH, 1-BP DEL, 1091C http://identifiers.org/clinvar/5113 ^@ NM_000199.3(SGSH):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/5114 ^@ NM_000199.3(SGSH):c.1339G>A (p.Glu447Lys) http://identifiers.org/clinvar/5115 ^@ SGSH, 9-BP DEL, NT1307 http://identifiers.org/clinvar/5116 ^@ SGSH, 11-BP DEL, NT1284 http://identifiers.org/clinvar/5117 ^@ NM_000199.3(SGSH):c.1105G>A (p.Glu369Lys) http://identifiers.org/clinvar/5118 ^@ NM_000199.3(SGSH):c.617G>C (p.Arg206Pro) http://identifiers.org/clinvar/5119 ^@ NM_001271604.2(JPH3):c.431_433CTG(6_27) (p.Ala150_Ala157del) http://identifiers.org/clinvar/5120 ^@ NM_001135242.1(NDRG1):c.442C>T (p.Arg148Ter) http://identifiers.org/clinvar/5121 ^@ NDRG1, IVS8AS-1G-A http://identifiers.org/clinvar/5122 ^@ NM_020661.3(AICDA):c.70C>T (p.Arg24Trp) http://identifiers.org/clinvar/5123 ^@ NM_020661.3(AICDA):c.203G>A (p.Trp68Ter) http://identifiers.org/clinvar/5124 ^@ NM_020661.3(AICDA):c.238T>C (p.Trp80Arg) http://identifiers.org/clinvar/5125 ^@ NM_020661.3(AICDA):c.317T>C (p.Leu106Pro) http://identifiers.org/clinvar/5126 ^@ NM_020661.3(AICDA):c.415A>G (p.Met139Val) http://identifiers.org/clinvar/5127 ^@ NM_020661.3(AICDA):c.441C>A (p.Cys147Ter) http://identifiers.org/clinvar/5128 ^@ NM_020661.3(AICDA):c.452T>C (p.Phe151Ser) http://identifiers.org/clinvar/5129 ^@ NM_020661.3(AICDA):c.21_39del19 (p.Arg8Asnfs) http://identifiers.org/clinvar/5130 ^@ NM_020661.3(AICDA):c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe) http://identifiers.org/clinvar/5131 ^@ NM_020533.2(MCOLN1):c.406-2A>G http://identifiers.org/clinvar/5132 ^@ NG_015806.1:g.4127_10560del6434 http://identifiers.org/clinvar/5133 ^@ NM_020533.2(MCOLN1):c.964C>T (p.Arg322Ter) http://identifiers.org/clinvar/5134 ^@ MCOLN1, 3-BP DEL, 1346CTT http://identifiers.org/clinvar/5135 ^@ NM_020533.2(MCOLN1):c.1084G>T (p.Asp362Tyr) http://identifiers.org/clinvar/5136 ^@ NM_020533.2(MCOLN1):c.304C>T (p.Arg102Ter) http://identifiers.org/clinvar/5137 ^@ NM_020533.2(MCOLN1):c.1207C>T (p.Arg403Cys) http://identifiers.org/clinvar/5138 ^@ MCOLN1, 93-BP INS, NT236 http://identifiers.org/clinvar/5139 ^@ MCOLN1, 1704A-T http://identifiers.org/clinvar/5140 ^@ USH1C, IVS5AS, A DEL, -2 http://identifiers.org/clinvar/5141 ^@ NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) http://identifiers.org/clinvar/5142 ^@ NM_005709.3(USH1C):c.496+59_496+103[9] http://identifiers.org/clinvar/5143 ^@ NM_005709.3(USH1C):c.216G>A (p.Val72=) http://identifiers.org/clinvar/5144 ^@ USH1C, IVS1DS, G-T, +1 http://identifiers.org/clinvar/5145 ^@ USH1C, IVS5DS, G-A, +1 http://identifiers.org/clinvar/5146 ^@ NM_005709.3(USH1C):c.91C>T (p.Arg31Ter) http://identifiers.org/clinvar/5147 ^@ USH1C, IVS12DS, G-C, +5 http://identifiers.org/clinvar/5148 ^@ NM_153676.3(USH1C):c.1823C>G (p.Pro608Arg) http://identifiers.org/clinvar/5149 ^@ NM_005709.3(USH1C):c.388G>A (p.Val130Ile) http://identifiers.org/clinvar/5150 ^@ NM_020632.2(ATP6V0A4):c.2257C>T (p.Gln753Ter) http://identifiers.org/clinvar/5151 ^@ NM_020632.2(ATP6V0A4):c.2458G>A (p.Gly820Arg) http://identifiers.org/clinvar/5152 ^@ NM_020632.2(ATP6V0A4):c.1691+1G>A http://identifiers.org/clinvar/5153 ^@ NM_020632.2(ATP6V0A4):c.105delT (p.Gln36Serfs) http://identifiers.org/clinvar/5154 ^@ NM_020632.2(ATP6V0A4):c.1739T>C (p.Met580Thr) http://identifiers.org/clinvar/5155 ^@ NM_020632.2(ATP6V0A4):c.418-1G>A http://identifiers.org/clinvar/5156 ^@ ATP6V0A4, 1-BP DEL, GLN276 http://identifiers.org/clinvar/5157 ^@ NM_020632.2(ATP6V0A4):c.1571C>T (p.Pro524Leu) http://identifiers.org/clinvar/5158 ^@ NM_020632.2(ATP6V0A4):c.1506T>A (p.Tyr502Ter) http://identifiers.org/clinvar/5159 ^@ NM_020632.2(ATP6V0A4):c.2420G>A (p.Arg807Gln) http://identifiers.org/clinvar/5160 ^@ NM_006895.2(HNMT):c.314C>T (p.Thr105Ile) http://identifiers.org/clinvar/5161 ^@ NM_213655.4(WNK1):c.759+12272_760-5774del http://identifiers.org/clinvar/5162 ^@ NG_007984.2:g.28500_50277del21778 http://identifiers.org/clinvar/5163 ^@ WNK1, 1-BP DEL, 594A http://identifiers.org/clinvar/5164 ^@ NM_213655.4(WNK1):c.2575C>T (p.Gln859Ter) http://identifiers.org/clinvar/5165 ^@ WNK1, 1-BP INS, 918A http://identifiers.org/clinvar/5166 ^@ NM_001184985.1(WNK1):c.3046C>T (p.Gln1016Ter) http://identifiers.org/clinvar/5167 ^@ WNK1, 1-BP DEL, 947C http://identifiers.org/clinvar/5168 ^@ NM_213655.4(WNK1):c.3226C>T (p.Arg1076Ter) http://identifiers.org/clinvar/5169 ^@ WNK1, 1-BP INS, 1134T http://identifiers.org/clinvar/5170 ^@ NM_213655.4(WNK1):c.2999delG (p.Arg1000Asnfs) http://identifiers.org/clinvar/5171 ^@ NM_213655.4(WNK1):c.1591_1592delGA (p.Asp531Cysfs) http://identifiers.org/clinvar/5172 ^@ DISC1, HAPLOTYPE, HEP3 http://identifiers.org/clinvar/5173 ^@ NM_005477.2(HCN4):c.2016C>A (p.Ser672Arg) http://identifiers.org/clinvar/5174 ^@ NM_005477.2(HCN4):c.1631delC (p.Pro544Argfs) http://identifiers.org/clinvar/5175 ^@ NM_005477.2(HCN4):c.1657G>A (p.Asp553Asn) http://identifiers.org/clinvar/5176 ^@ NM_005477.2(HCN4):c.1438G>C (p.Gly480Arg) http://identifiers.org/clinvar/5177 ^@ NM_005477.2(HCN4):c.1209_1209+1insGTGA http://identifiers.org/clinvar/5178 ^@ ADCY10, 923C-T http://identifiers.org/clinvar/5179 ^@ ADCY10, 1438+30T-C http://identifiers.org/clinvar/5180 ^@ NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) http://identifiers.org/clinvar/5181 ^@ NM_000113.2(TOR1A):c.966_983del18 (p.Phe323_Tyr328del) http://identifiers.org/clinvar/5182 ^@ NM_000113.2(TOR1A):c.646G>C (p.Asp216His) http://identifiers.org/clinvar/5183 ^@ NM_001039958.1(MESP2):c.500_503dupACCG (p.Gly169Profs) http://identifiers.org/clinvar/5184 ^@ NM_001039958.1(MESP2):c.307G>T (p.Glu103Ter) http://identifiers.org/clinvar/5185 ^@ NM_001039958.1(MESP2):c.373C>G (p.Leu125Val) http://identifiers.org/clinvar/5186 ^@ NM_001039958.1(MESP2):c.700G>T (p.Glu234Ter) http://identifiers.org/clinvar/5187 ^@ NM_032545.3(CFC1):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/5188 ^@ NM_032545.3(CFC1):c.522delC (p.Ala175Argfs) http://identifiers.org/clinvar/5190 ^@ NM_032545.3(CFC1):c.360_362+17dup20 http://identifiers.org/clinvar/5191 ^@ NM_054027.4(ANKH):c.1129_1131delTTC (p.Phe377del) http://identifiers.org/clinvar/5192 ^@ NM_054027.4(ANKH):c.1165G>A (p.Gly389Arg) http://identifiers.org/clinvar/5193 ^@ ANKH, IVS9, A-G, -4 http://identifiers.org/clinvar/5194 ^@ NM_054027.4(ANKH):c.1123_1125delTCC (p.Ser375del) http://identifiers.org/clinvar/5195 ^@ NM_054027.4(ANKH):c.143T>C (p.Met48Thr) http://identifiers.org/clinvar/5196 ^@ ANKH, -11C-T http://identifiers.org/clinvar/5197 ^@ NM_054027.4(ANKH):c.1468_1470delGAG (p.Glu490del) http://identifiers.org/clinvar/5198 ^@ NM_054027.4(ANKH):c.14C>T (p.Pro5Leu) http://identifiers.org/clinvar/5199 ^@ NM_054027.4(ANKH):c.13C>A (p.Pro5Thr) http://identifiers.org/clinvar/5200 ^@ NM_054027.4(ANKH):c.1015T>C (p.Cys339Arg) http://identifiers.org/clinvar/5201 ^@ NM_054027.4(ANKH):c.1172T>C (p.Leu391Pro) http://identifiers.org/clinvar/5202 ^@ NM_054027.4(ANKH):c.1001T>G (p.Leu334Arg) http://identifiers.org/clinvar/5203 ^@ NM_016373.3(WWOX):c.872T>C (p.Leu291Pro) http://identifiers.org/clinvar/5204 ^@ NM_021102.3(SPINT2):c.593-1G>A http://identifiers.org/clinvar/5205 ^@ NM_021102.3(SPINT2):c.488A>G (p.Tyr163Cys) http://identifiers.org/clinvar/5206 ^@ NM_021102.3(SPINT2):c.337+2T>C http://identifiers.org/clinvar/5207 ^@ NM_021102.3(SPINT2):c.553+2T>A http://identifiers.org/clinvar/5208 ^@ NM_021102.3(SPINT2):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/5209 ^@ NM_005763.3(AASS):c.1601_1609delGTAAACAAG (p.Cys534_Ala871delinsTer) http://identifiers.org/clinvar/5210 ^@ NM_006610.3(MASP2):c.359A>G (p.Asp120Gly) http://identifiers.org/clinvar/5211 ^@ NM_015093.5(TAB2):c.622C>T (p.Pro208Ser) http://identifiers.org/clinvar/5212 ^@ NM_015093.5(TAB2):c.688C>A (p.Gln230Lys) http://identifiers.org/clinvar/5213 ^@ NM_018965.3(TREM2):c.233G>A (p.Trp78Ter) http://identifiers.org/clinvar/5214 ^@ NM_018965.3(TREM2):c.558G>T (p.Lys186Asn) http://identifiers.org/clinvar/5215 ^@ NM_018965.3(TREM2):c.401A>G (p.Asp134Gly) http://identifiers.org/clinvar/5216 ^@ TREM2, IVS3, T-C, +2 http://identifiers.org/clinvar/5217 ^@ NM_018965.3(TREM2):c.132G>A (p.Trp44Ter) http://identifiers.org/clinvar/5218 ^@ NM_018965.3(TREM2):c.377T>G (p.Val126Gly) http://identifiers.org/clinvar/5219 ^@ NM_018965.3(TREM2):c.97C>T (p.Gln33Ter) http://identifiers.org/clinvar/5220 ^@ NM_001463.3(FRZB):c.970C>G (p.Arg324Gly) http://identifiers.org/clinvar/5221 ^@ NM_001463.3(FRZB):c.598C>T (p.Arg200Trp) http://identifiers.org/clinvar/5222 ^@ NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) http://identifiers.org/clinvar/5223 ^@ NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) http://identifiers.org/clinvar/5224 ^@ CNGB3, 1-BP INS, 492T http://identifiers.org/clinvar/5225 ^@ NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) http://identifiers.org/clinvar/5226 ^@ CNGB3, 8-BP DEL, NT819 http://identifiers.org/clinvar/5227 ^@ NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) http://identifiers.org/clinvar/5228 ^@ NM_007375.3(TARDBP):c.1009A>G (p.Met337Val) http://identifiers.org/clinvar/5229 ^@ NM_007375.3(TARDBP):c.991C>A (p.Gln331Lys) http://identifiers.org/clinvar/5230 ^@ NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala) http://identifiers.org/clinvar/5231 ^@ NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) http://identifiers.org/clinvar/5232 ^@ NM_007375.3(TARDBP):c.892G>A (p.Gly298Ser) http://identifiers.org/clinvar/5233 ^@ NM_007375.3(TARDBP):c.506A>G (p.Asp169Gly) http://identifiers.org/clinvar/5234 ^@ NM_007375.3(TARDBP):c.1042G>T (p.Gly348Cys) http://identifiers.org/clinvar/5235 ^@ NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg) http://identifiers.org/clinvar/5236 ^@ NM_007375.3(TARDBP):c.943G>A (p.Ala315Thr) http://identifiers.org/clinvar/5238 ^@ NM_007375.3(TARDBP):c.787A>G (p.Lys263Glu) http://identifiers.org/clinvar/5239 ^@ NM_007375.3(TARDBP):c.*697G>A http://identifiers.org/clinvar/5240 ^@ TRIM37, 5-BP DEL, NT493 http://identifiers.org/clinvar/5241 ^@ TRIM37, 1-BP DEL, 2212G http://identifiers.org/clinvar/5242 ^@ TRIM37, 5-BP DEL, NT838 http://identifiers.org/clinvar/5243 ^@ TRIM37, 1-BP INS, 1346A http://identifiers.org/clinvar/5244 ^@ TRIM37, 8-BP DEL, NT855 http://identifiers.org/clinvar/5245 ^@ NM_001005207.3(TRIM37):c.326G>C (p.Cys109Ser) http://identifiers.org/clinvar/5246 ^@ NM_015294.4(TRIM37):c.860G>A (p.Ser287Asn) http://identifiers.org/clinvar/5247 ^@ NM_014588.5(VSX1):c.496C>T (p.Arg166Trp) http://identifiers.org/clinvar/5248 ^@ NM_014588.5(VSX1):c.479G>A (p.Gly160Asp) http://identifiers.org/clinvar/5249 ^@ NM_014588.5(VSX1):c.475T>A (p.Leu159Met) http://identifiers.org/clinvar/5250 ^@ NM_014588.5(VSX1):c.766G>T (p.Ala256Ser) http://identifiers.org/clinvar/5251 ^@ NM_014588.5(VSX1):c.50T>C (p.Leu17Pro) http://identifiers.org/clinvar/5252 ^@ CYLD, NT2469, G-A, +1 http://identifiers.org/clinvar/5253 ^@ NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) http://identifiers.org/clinvar/5254 ^@ CYLD, 1-BP DEL, 2253G http://identifiers.org/clinvar/5255 ^@ CYLD, 1-BP DEL, 2172A http://identifiers.org/clinvar/5256 ^@ CYLD, 2-BP DEL, 2241AG http://identifiers.org/clinvar/5257 ^@ CYLD, IVS12AS, T-G, +2 http://identifiers.org/clinvar/5258 ^@ NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) http://identifiers.org/clinvar/5259 ^@ NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) http://identifiers.org/clinvar/5260 ^@ CYLD, 1-BP DUP, 561T http://identifiers.org/clinvar/5261 ^@ CYLD, 1-BP DUP, 1392T http://identifiers.org/clinvar/5262 ^@ CYLD, 4-BP DEL, 1950-1GATA http://identifiers.org/clinvar/5263 ^@ NM_003764.3(STX11):c.369_376delAGTGGCGCinsTGG (p.Val124Glyfs) http://identifiers.org/clinvar/5264 ^@ NC_000006.12:g.144176889_144196077del19189 http://identifiers.org/clinvar/5265 ^@ NM_003764.3(STX11):c.802C>T (p.Gln268Ter) http://identifiers.org/clinvar/5266 ^@ NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) http://identifiers.org/clinvar/5267 ^@ NM_006846.3(SPINK5):c.283-2A>T http://identifiers.org/clinvar/5268 ^@ NM_006846.3(SPINK5):c.2468dupA (p.Lys824Glufs) http://identifiers.org/clinvar/5269 ^@ NM_006846.3(SPINK5):c.1258A>G (p.Lys420Glu) http://identifiers.org/clinvar/5270 ^@ NM_004252.4(SLC9A3R1):c.328C>G (p.Leu110Val) http://identifiers.org/clinvar/5271 ^@ NM_004252.4(SLC9A3R1):c.458G>A (p.Arg153Gln) http://identifiers.org/clinvar/5272 ^@ NM_004252.4(SLC9A3R1):c.673G>A (p.Glu225Lys) http://identifiers.org/clinvar/5273 ^@ SPTBN2, 39-BP DEL http://identifiers.org/clinvar/5274 ^@ SPTBN2, 15-BP DEL, NT1886 http://identifiers.org/clinvar/5275 ^@ NM_006946.2(SPTBN2):c.758T>C (p.Leu253Pro) http://identifiers.org/clinvar/5276 ^@ NM_007215.3(POLG2):c.1352G>A (p.Gly451Glu) http://identifiers.org/clinvar/5277 ^@ NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs) http://identifiers.org/clinvar/5278 ^@ NM_000195.4(HPS1):c.972dupC (p.Met325Hisfs) http://identifiers.org/clinvar/5279 ^@ NM_000195.4(HPS1):c.1996G>T (p.Glu666Ter) http://identifiers.org/clinvar/5280 ^@ NM_000195.4(HPS1):c.972delC (p.Met325Trpfs) http://identifiers.org/clinvar/5281 ^@ NM_000195.4(HPS1):c.397G>T (p.Glu133Ter) http://identifiers.org/clinvar/5282 ^@ NM_000195.4(HPS1):c.962dupG (p.Thr322Hisfs) http://identifiers.org/clinvar/5283 ^@ NM_000195.4(HPS1):c.398+5G>A http://identifiers.org/clinvar/5284 ^@ NM_017431.2(PRKAG3):c.673C>T (p.Arg225Trp) http://identifiers.org/clinvar/5285 ^@ NM_003665.3(FCN3):c.349delC (p.Leu117Serfs) http://identifiers.org/clinvar/5286 ^@ NM_016953.3(PDE11A):c.919C>T (p.Arg307Ter) http://identifiers.org/clinvar/5287 ^@ PDE11A, 1-BP DEL, 171T http://identifiers.org/clinvar/5288 ^@ KIR3DS, KIR3DS +/- HLA-B Bw4-80ILE http://identifiers.org/clinvar/5289 ^@ NM_198999.2(SLC26A5):c.-53-2A>G http://identifiers.org/clinvar/5290 ^@ NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) http://identifiers.org/clinvar/5291 ^@ TBCE, 2-BP DEL, 66AG http://identifiers.org/clinvar/5292 ^@ NM_001079515.2(TBCE):c.1113T>A (p.Cys371Ter) http://identifiers.org/clinvar/5293 ^@ NM_001128425.1(MUTYH):c.536A>G (p.Tyr179Cys) http://identifiers.org/clinvar/5294 ^@ NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) http://identifiers.org/clinvar/5295 ^@ NM_001128425.1(MUTYH):c.1461delC (p.Thr488Profs) http://identifiers.org/clinvar/5296 ^@ NM_001128425.1(MUTYH):c.312C>A (p.Tyr104Ter) http://identifiers.org/clinvar/5297 ^@ NM_001128425.1(MUTYH):c.1438G>T (p.Glu480Ter) http://identifiers.org/clinvar/5298 ^@ NM_001128425.1(MUTYH):c.1213C>T (p.Pro405Ser) http://identifiers.org/clinvar/5299 ^@ NM_001128425.1(MUTYH):c.1241A>G (p.Gln414Arg) http://identifiers.org/clinvar/5300 ^@ MUTYH, 2-BP INS, 1186GG http://identifiers.org/clinvar/5301 ^@ NM_004715.4(CTDP1):c.863+389C>T http://identifiers.org/clinvar/5302 ^@ NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) http://identifiers.org/clinvar/5303 ^@ NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) http://identifiers.org/clinvar/5304 ^@ NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) http://identifiers.org/clinvar/5305 ^@ TNFRSF13B, 1-BP INS, 204A http://identifiers.org/clinvar/5306 ^@ NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) http://identifiers.org/clinvar/5307 ^@ NM_012452.2(TNFRSF13B):c.431C>A (p.Ser144Ter) http://identifiers.org/clinvar/242808 ^@ NM_170784.2(MKKS):c.250C>T (p.His84Tyr) http://identifiers.org/clinvar/5309 ^@ NM_170784.2(MKKS):c.110A>G (p.Tyr37Cys) http://identifiers.org/clinvar/5310 ^@ MKKS, 2-BP DEL, 2111GG http://identifiers.org/clinvar/5311 ^@ NM_170784.2(MKKS):c.155G>A (p.Gly52Asp) http://identifiers.org/clinvar/5312 ^@ NM_170784.2(MKKS):c.792T>A (p.Tyr264Ter) http://identifiers.org/clinvar/5313 ^@ NM_170784.2(MKKS):c.281delT (p.Phe94Serfs) http://identifiers.org/clinvar/5314 ^@ NM_170784.2(MKKS):c.830T>C (p.Leu277Pro) http://identifiers.org/clinvar/5315 ^@ MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG http://identifiers.org/clinvar/5316 ^@ NM_170784.2(MKKS):c.169A>G (p.Thr57Ala) http://identifiers.org/clinvar/5318 ^@ NM_170784.2(MKKS):c.442C>T (p.Gln148Ter) http://identifiers.org/clinvar/5319 ^@ NM_170784.2(MKKS):c.1496G>C (p.Cys499Ser) http://identifiers.org/clinvar/5320 ^@ NM_170784.2(MKKS):c.973A>C (p.Thr325Pro) http://identifiers.org/clinvar/5321 ^@ TBX21, -1993T-C http://identifiers.org/clinvar/5322 ^@ NM_020999.3(NEUROG3):c.319C>A (p.Arg107Ser) http://identifiers.org/clinvar/5323 ^@ NM_020999.3(NEUROG3):c.278G>T (p.Arg93Leu) http://identifiers.org/clinvar/5324 ^@ NM_133647.1(SLC12A6):c.2436delG (p.Thr813Profs) http://identifiers.org/clinvar/5326 ^@ NM_133647.1(SLC12A6):c.3031C>T (p.Arg1011Ter) http://identifiers.org/clinvar/5327 ^@ NM_133647.1(SLC12A6):c.2023C>T (p.Arg675Ter) http://identifiers.org/clinvar/5330 ^@ NM_005135.2(SLC12A6):c.748delA (p.Ile250Serfs) http://identifiers.org/clinvar/5331 ^@ NM_005135.2(SLC12A6):c.466C>T (p.Arg156Cys) http://identifiers.org/clinvar/5332 ^@ NM_005135.2(SLC12A6):c.2841_2850delCCAGATGCTC (p.Gln948Glyfs) http://identifiers.org/clinvar/5333 ^@ NM_016945.2(TAS2R16):c.516T>G (p.Asn172Lys) http://identifiers.org/clinvar/5334 ^@ NM_004744.4(LRAT):c.525T>A (p.Ser175Arg) http://identifiers.org/clinvar/5335 ^@ LRAT, 2-BP DEL, 396AA http://identifiers.org/clinvar/5336 ^@ LRAT, 2-BP DEL, 217AT http://identifiers.org/clinvar/5337 ^@ NM_015717.4(CD207):c.790T>C (p.Trp264Arg) http://identifiers.org/clinvar/5338 ^@ NM_153717.2(EVC):c.1886+5G>T http://identifiers.org/clinvar/5339 ^@ NM_153717.2(EVC):c.2635C>T (p.Gln879Ter) http://identifiers.org/clinvar/5340 ^@ NM_153717.2(EVC):c.1018C>T (p.Arg340Ter) http://identifiers.org/clinvar/5341 ^@ NM_153717.2(EVC):c.735delT (p.Asp246Thrfs) http://identifiers.org/clinvar/5342 ^@ NM_153717.2(EVC):c.1328G>A (p.Arg443Gln) http://identifiers.org/clinvar/5343 ^@ NM_153717.2(EVC):c.919T>C (p.Ser307Pro) http://identifiers.org/clinvar/5344 ^@ NM_153717.2(EVC):c.2457delG (p.Met820Trpfs) http://identifiers.org/clinvar/5345 ^@ KL, KL-VS HAPLOTYPE http://identifiers.org/clinvar/5346 ^@ NM_004795.3(KL):c.578A>G (p.His193Arg) http://identifiers.org/clinvar/5347 ^@ ABHD5, IVS6, G-A, -1 http://identifiers.org/clinvar/5348 ^@ NM_016006.4(ABHD5):c.98C>G (p.Ser33Ter) http://identifiers.org/clinvar/5349 ^@ ABHD5, IVS3, A-G, -2 http://identifiers.org/clinvar/5350 ^@ NM_016006.4(ABHD5):c.389A>C (p.Gln130Pro) http://identifiers.org/clinvar/5351 ^@ NM_016006.4(ABHD5):c.19G>A (p.Glu7Lys) http://identifiers.org/clinvar/5352 ^@ NM_016006.4(ABHD5):c.594dupC (p.Arg199Glnfs) http://identifiers.org/clinvar/5353 ^@ NM_016006.4(ABHD5):c.778G>A (p.Glu260Lys) http://identifiers.org/clinvar/5354 ^@ NM_016006.4(ABHD5):c.46_47delAG (p.Arg16Valfs) http://identifiers.org/clinvar/5355 ^@ NM_014384.2(ACAD8):c.455T>C (p.Met152Thr) http://identifiers.org/clinvar/5356 ^@ NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) http://identifiers.org/clinvar/5357 ^@ NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) http://identifiers.org/clinvar/5358 ^@ NM_014384.2(ACAD8):c.867C>A (p.His289Gln) http://identifiers.org/clinvar/5359 ^@ NM_014384.2(ACAD8):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/5360 ^@ NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/5361 ^@ NM_014625.3(NPHS2):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/5362 ^@ NPHS2, 1-BP INS, 104G http://identifiers.org/clinvar/5363 ^@ NPHS2, 1-BP DEL, 419G http://identifiers.org/clinvar/5364 ^@ NPHS2, 2-BP DEL, 855AA http://identifiers.org/clinvar/5365 ^@ NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) http://identifiers.org/clinvar/5366 ^@ NM_014625.3(NPHS2):c.274G>T (p.Gly92Cys) http://identifiers.org/clinvar/5367 ^@ NM_014625.3(NPHS2):c.479A>G (p.Asp160Gly) http://identifiers.org/clinvar/5368 ^@ NM_014625.3(NPHS2):c.538G>A (p.Val180Met) http://identifiers.org/clinvar/5369 ^@ NM_014625.3(NPHS2):c.871C>T (p.Arg291Trp) http://identifiers.org/clinvar/5370 ^@ NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) http://identifiers.org/clinvar/5371 ^@ SYCP3, 1-BP DEL, 643A http://identifiers.org/clinvar/5372 ^@ NM_153694.4(SYCP3):c.553-21_553-18delACTT http://identifiers.org/clinvar/5373 ^@ NM_153694.4(SYCP3):c.657T>C (p.Thr219=) http://identifiers.org/clinvar/5374 ^@ NM_005989.3(AKR1D1):c.593C>T (p.Pro198Leu) http://identifiers.org/clinvar/5375 ^@ AKR1D1, 1-BP DEL, 511T http://identifiers.org/clinvar/5376 ^@ NM_005989.3(AKR1D1):c.316C>T (p.Leu106Phe) http://identifiers.org/clinvar/5377 ^@ NM_005989.3(AKR1D1):c.398C>G (p.Pro133Arg) http://identifiers.org/clinvar/5378 ^@ NM_005989.3(AKR1D1):c.781C>T (p.Arg261Cys) http://identifiers.org/clinvar/5379 ^@ NM_001172696.1(TSFM):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/5380 ^@ NM_003227.3(TFR2):c.750C>G (p.Tyr250Ter) http://identifiers.org/clinvar/5381 ^@ NM_003227.3(TFR2):c.88dupC (p.Arg30Profs) http://identifiers.org/clinvar/5382 ^@ NM_003227.3(TFR2):c.515T>A (p.Met172Lys) http://identifiers.org/clinvar/5383 ^@ NM_003227.3(TFR2):c.1364G>A (p.Arg455Gln) http://identifiers.org/clinvar/5384 ^@ NM_003227.3(TFR2):c.2069A>C (p.Gln690Pro) http://identifiers.org/clinvar/5385 ^@ TSPYL1, 1-BP INS, 457G http://identifiers.org/clinvar/5386 ^@ NM_015713.4(RRM2B):c.850C>T (p.Gln284Ter) http://identifiers.org/clinvar/5387 ^@ NM_015713.4(RRM2B):c.322-2A>G http://identifiers.org/clinvar/5388 ^@ NM_015713.4(RRM2B):c.580G>A (p.Glu194Lys) http://identifiers.org/clinvar/5389 ^@ RRM2B, 3-BP DEL, 253GAG http://identifiers.org/clinvar/5390 ^@ NM_015713.4(RRM2B):c.707G>T (p.Cys236Phe) http://identifiers.org/clinvar/5391 ^@ NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter) http://identifiers.org/clinvar/5392 ^@ NM_015713.4(RRM2B):c.686G>T (p.Gly229Val) http://identifiers.org/clinvar/5393 ^@ NM_015713.4(RRM2B):c.329G>A (p.Arg110His) http://identifiers.org/clinvar/5394 ^@ NM_015713.4(RRM2B):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/5395 ^@ NM_003573.2(LTBP4):c.3554delA (p.Gln1185Argfs) http://identifiers.org/clinvar/5396 ^@ NM_003573.2(LTBP4):c.791delC (p.Pro264Argfs) http://identifiers.org/clinvar/5397 ^@ NM_003573.2(LTBP4):c.2571C>A (p.Cys857Ter) http://identifiers.org/clinvar/5398 ^@ NM_003573.2(LTBP4):c.820T>G (p.Cys274Gly) http://identifiers.org/clinvar/5399 ^@ NM_001042544.1(LTBP4):c.4238dupC (p.Arg1414Alafs) http://identifiers.org/clinvar/5400 ^@ MERTK, 5-BP DEL, NT2070 http://identifiers.org/clinvar/5401 ^@ NM_006343.2(MERTK):c.1605-2A>G http://identifiers.org/clinvar/5402 ^@ NM_006343.2(MERTK):c.1951C>T (p.Arg651Ter) http://identifiers.org/clinvar/5403 ^@ NM_006343.2(MERTK):c.2189+1G>T http://identifiers.org/clinvar/5404 ^@ NM_007202.3(AKAP10):c.1936A>G (p.Ile646Val) http://identifiers.org/clinvar/5405 ^@ PTGDR, HAPLOTYPE TCT http://identifiers.org/clinvar/5406 ^@ PTGDR, HAPLOTYPE CCC http://identifiers.org/clinvar/5407 ^@ NM_006735.3(HOXA2):c.556C>A (p.Gln186Lys) http://identifiers.org/clinvar/5408 ^@ CD209, -336A-G http://identifiers.org/clinvar/5409 ^@ CD209, -871G-A http://identifiers.org/clinvar/5410 ^@ NM_014585.5(SLC40A1):c.430A>C (p.Asn144His) http://identifiers.org/clinvar/5411 ^@ NM_014585.5(SLC40A1):c.230C>A (p.Ala77Asp) http://identifiers.org/clinvar/5412 ^@ NM_014585.5(SLC40A1):c.470A>G (p.Asp157Gly) http://identifiers.org/clinvar/5413 ^@ NM_014585.5(SLC40A1):c.546G>T (p.Gln182His) http://identifiers.org/clinvar/5414 ^@ SLC40A1, 3-BP DEL, VAL162DEL http://identifiers.org/clinvar/5415 ^@ NM_014585.5(SLC40A1):c.968G>T (p.Gly323Val) http://identifiers.org/clinvar/5416 ^@ NM_014585.5(SLC40A1):c.542A>T (p.Asp181Val) http://identifiers.org/clinvar/5417 ^@ NM_014585.5(SLC40A1):c.239G>T (p.Gly80Val) http://identifiers.org/clinvar/5418 ^@ NM_014585.5(SLC40A1):c.800G>A (p.Gly267Asp) http://identifiers.org/clinvar/5419 ^@ NM_005456.3(MAPK8IP1):c.176G>A (p.Ser59Asn) http://identifiers.org/clinvar/5420 ^@ NM_004924.5(ACTN4):c.763A>G (p.Lys255Glu) http://identifiers.org/clinvar/5421 ^@ NM_004924.5(ACTN4):c.776C>T (p.Thr259Ile) http://identifiers.org/clinvar/5422 ^@ NM_004924.5(ACTN4):c.784T>C (p.Ser262Pro) http://identifiers.org/clinvar/5423 ^@ NM_016938.4(EFEMP2):c.169G>A (p.Glu57Lys) http://identifiers.org/clinvar/5424 ^@ NM_016938.4(EFEMP2):c.835C>T (p.Arg279Cys) http://identifiers.org/clinvar/5425 ^@ NM_016938.4(EFEMP2):c.1070_1073dupCCGC (p.Asp359Argfs) http://identifiers.org/clinvar/5426 ^@ NM_021969.2(NR0B2):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/5427 ^@ NM_021969.2(NR0B2):c.583G>T (p.Ala195Ser) http://identifiers.org/clinvar/5428 ^@ NM_004771.3(MMP20):c.954-2A>T http://identifiers.org/clinvar/5429 ^@ NM_006308.2(HSPB3):c.21G>T (p.Arg7Ser) http://identifiers.org/clinvar/5430 ^@ NM_005097.3(LGI1):c.1148A>C (p.Glu383Ala) http://identifiers.org/clinvar/5431 ^@ LGI1, 1-BP DEL, 835C http://identifiers.org/clinvar/5432 ^@ LGI1, IVS3AS, C-A, -3 http://identifiers.org/clinvar/5433 ^@ NM_005097.3(LGI1):c.136T>C (p.Cys46Arg) http://identifiers.org/clinvar/5434 ^@ LGI1, 1320C-T http://identifiers.org/clinvar/5435 ^@ NM_005097.3(LGI1):c.953T>G (p.Phe318Cys) http://identifiers.org/clinvar/5436 ^@ LGI1, IVS5DS, G-A, +1 http://identifiers.org/clinvar/5437 ^@ NM_005097.3(LGI1):c.695T>C (p.Leu232Pro) http://identifiers.org/clinvar/5438 ^@ NM_005097.3(LGI1):c.406C>T (p.Arg136Trp) http://identifiers.org/clinvar/5439 ^@ NM_005097.3(LGI1):c.365T>A (p.Ile122Lys) http://identifiers.org/clinvar/5440 ^@ NM_005149.2(TBX19):c.856C>T (p.Arg286Ter) http://identifiers.org/clinvar/5441 ^@ NM_005149.2(TBX19):c.383C>T (p.Ser128Phe) http://identifiers.org/clinvar/5442 ^@ NM_005149.2(TBX19):c.257T>G (p.Met86Arg) http://identifiers.org/clinvar/5443 ^@ NM_005149.2(TBX19):c.782delA (p.Asn261Ilefs) http://identifiers.org/clinvar/5444 ^@ NM_000553.4(WRN):c.3913C>T (p.Arg1305Ter) http://identifiers.org/clinvar/5445 ^@ NM_000553.4(WRN):c.3493C>T (p.Gln1165Ter) http://identifiers.org/clinvar/5446 ^@ NM_000553.4(WRN):c.3690_3693delAGAC (p.Asp1231Serfs) http://identifiers.org/clinvar/5447 ^@ NM_000553.4(WRN):c.3139-1G>C http://identifiers.org/clinvar/5448 ^@ NM_000553.4(WRN):c.3915dupA (p.Ala1306Serfs) http://identifiers.org/clinvar/5449 ^@ NM_000553.4(WRN):c.1105C>T (p.Arg369Ter) http://identifiers.org/clinvar/5450 ^@ NM_000553.4(WRN):c.3686A>T (p.Gln1229Leu) http://identifiers.org/clinvar/5451 ^@ RECQL2, 1-BP DEL, NT1396 http://identifiers.org/clinvar/5452 ^@ NM_000553.4(WRN):c.1730A>T (p.Lys577Met) http://identifiers.org/clinvar/242807 ^@ NM_000553.4(WRN):c.375A>T (p.Lys125Asn) http://identifiers.org/clinvar/5454 ^@ NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) http://identifiers.org/clinvar/5455 ^@ NM_000057.3(BLM):c.557_559delCAA (p.Ser186_Pro521delinsTer) http://identifiers.org/clinvar/5457 ^@ NM_000057.3(BLM):c.3107G>T (p.Cys1036Phe) http://identifiers.org/clinvar/5458 ^@ NC_000003.12:g.124055231T>G http://identifiers.org/clinvar/5459 ^@ TCIRG1, 1-BP DEL, 5272C http://identifiers.org/clinvar/5460 ^@ NM_006019.3(TCIRG1):c.1392C>A (p.Cys464Ter) http://identifiers.org/clinvar/5461 ^@ TCIRG1,IVS15AS, G-A, -1 http://identifiers.org/clinvar/5462 ^@ TCIRG1, IVS2AS, A-T, +4 http://identifiers.org/clinvar/5463 ^@ NM_006019.3(TCIRG1):c.1213G>A (p.Gly405Arg) http://identifiers.org/clinvar/5464 ^@ NM_006019.3(TCIRG1):c.1331G>T (p.Arg444Leu) http://identifiers.org/clinvar/5465 ^@ TCIRG1, 26-BP DEL, CODON 216 http://identifiers.org/clinvar/5466 ^@ FCGR2B, -343G-C http://identifiers.org/clinvar/5467 ^@ NM_004001.4(FCGR2B):c.695T>C (p.Ile232Thr) http://identifiers.org/clinvar/5468 ^@ NM_006207.2(PDGFRL):c.67C>T (p.His23Tyr) http://identifiers.org/clinvar/5469 ^@ PDGRL, 2-BP DEL http://identifiers.org/clinvar/5470 ^@ NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys) http://identifiers.org/clinvar/5471 ^@ NM_006796.2(AFG3L2):c.2021_2022delCCinsTA (p.Ser674Leu) http://identifiers.org/clinvar/5472 ^@ NM_006796.2(AFG3L2):c.2081C>A (p.Ala694Glu) http://identifiers.org/clinvar/5473 ^@ NM_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln) http://identifiers.org/clinvar/5474 ^@ NM_006796.2(AFG3L2):c.1295A>C (p.Asn432Thr) http://identifiers.org/clinvar/5475 ^@ NM_006329.3(FBLN5):c.679T>C (p.Ser227Pro) http://identifiers.org/clinvar/5476 ^@ FBLN5, 483-BP DUP http://identifiers.org/clinvar/5477 ^@ NM_006329.3(FBLN5):c.178G>C (p.Val60Leu) http://identifiers.org/clinvar/5478 ^@ NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln) http://identifiers.org/clinvar/5479 ^@ NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser) http://identifiers.org/clinvar/5480 ^@ NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr) http://identifiers.org/clinvar/5481 ^@ NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) http://identifiers.org/clinvar/5482 ^@ NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr) http://identifiers.org/clinvar/5483 ^@ NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu) http://identifiers.org/clinvar/5484 ^@ NM_012193.3(FZD4):c.1479_1484delGTGGAT (p.Met493_Trp494del) http://identifiers.org/clinvar/5485 ^@ NM_012193.3(FZD4):c.1501_1502delCT (p.Leu501Serfs) http://identifiers.org/clinvar/5486 ^@ NM_012193.3(FZD4):c.1250G>A (p.Arg417Gln) http://identifiers.org/clinvar/5487 ^@ NM_012193.3(FZD4):c.1024A>G (p.Met342Val) http://identifiers.org/clinvar/5488 ^@ NM_012193.3(FZD4):c.1005G>C (p.Trp335Cys) http://identifiers.org/clinvar/5489 ^@ NM_012193.3(FZD4):c.766A>G (p.Ile256Val) http://identifiers.org/clinvar/5490 ^@ NM_014141.5(CNTNAP2):c.3709delG (p.Asp1237Ilefs) http://identifiers.org/clinvar/5491 ^@ NM_014141.5(CNTNAP2):c.2099-26267A>G http://identifiers.org/clinvar/5492 ^@ NM_014141.5(CNTNAP2):c.208+18133A>T http://identifiers.org/clinvar/5493 ^@ NM_014141.5(CNTNAP2):c.2606T>C (p.Ile869Thr) http://identifiers.org/clinvar/5494 ^@ NC_000007.13:g.(?_145931708)_(147099477_?)del http://identifiers.org/clinvar/5495 ^@ NM_014141.5(CNTNAP2):c.1671-1G>T http://identifiers.org/clinvar/5496 ^@ NC_000007.13:g.(?_146756421)_(146935930_?)del http://identifiers.org/clinvar/5497 ^@ NM_013339.3(ALG6):c.998C>T (p.Ala333Val) http://identifiers.org/clinvar/5498 ^@ NM_013339.3(ALG6):c.1432T>C (p.Ser478Pro) http://identifiers.org/clinvar/5499 ^@ ALG6, IVS3DS, G-A, +5 http://identifiers.org/clinvar/5501 ^@ ICOS, EX2-3 DEL http://identifiers.org/clinvar/5502 ^@ NM_014244.4(ADAMTS2):c.673C>T (p.Gln225Ter) http://identifiers.org/clinvar/5503 ^@ NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter) http://identifiers.org/clinvar/5504 ^@ NG_023212.2:g.(6563_77264)_(169258_191449)del http://identifiers.org/clinvar/5505 ^@ IDH3B, 1-BP DEL, 589A http://identifiers.org/clinvar/5506 ^@ NM_006899.4(IDH3B):c.395T>C (p.Leu132Pro) http://identifiers.org/clinvar/5507 ^@ BLNK, IVS1DS, A-T, +3 http://identifiers.org/clinvar/5508 ^@ NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) http://identifiers.org/clinvar/5509 ^@ NP_004230.2:p.Trp1224Ter http://identifiers.org/clinvar/5510 ^@ NM_004239.4(TRIP11):c.202-2A>G http://identifiers.org/clinvar/5511 ^@ NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) http://identifiers.org/clinvar/5512 ^@ NM_014363.5(SACS):c.8844delT (p.Ile2949Phefs) http://identifiers.org/clinvar/5513 ^@ NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter) http://identifiers.org/clinvar/5514 ^@ NM_014363.5(SACS):c.12220G>C (p.Ala4074Pro) http://identifiers.org/clinvar/5515 ^@ SACS, 1-BP DEL, 1411T http://identifiers.org/clinvar/5516 ^@ SACS, 1-BP INS, 1155A http://identifiers.org/clinvar/5517 ^@ NM_014363.5(SACS):c.5836T>C (p.Trp1946Arg) http://identifiers.org/clinvar/5518 ^@ NM_014363.5(SACS):c.4033dupC (p.Gln1345Profs) http://identifiers.org/clinvar/5519 ^@ NM_014363.5(SACS):c.9742T>C (p.Trp3248Arg) http://identifiers.org/clinvar/5520 ^@ NM_014363.5(SACS):c.3161T>C (p.Phe1054Ser) http://identifiers.org/clinvar/5521 ^@ SACS, 10-BP DEL, NT32627 http://identifiers.org/clinvar/5522 ^@ SACS, 1-BP DEL, 31760T http://identifiers.org/clinvar/5523 ^@ NM_014324.5(AMACR):c.154T>C (p.Ser52Pro) http://identifiers.org/clinvar/5524 ^@ NM_014324.5(AMACR):c.320T>C (p.Leu107Pro) http://identifiers.org/clinvar/5525 ^@ NM_003673.3(TCAP):c.157C>T (p.Gln53Ter) http://identifiers.org/clinvar/5526 ^@ NM_003673.3(TCAP):c.109_110delGG (p.Gly37Leufs) http://identifiers.org/clinvar/5527 ^@ NM_003673.3(TCAP):c.260G>A (p.Arg87Gln) http://identifiers.org/clinvar/5528 ^@ NR2E3, IVS1AS, A-C http://identifiers.org/clinvar/5529 ^@ NM_014249.3(NR2E3):c.226C>T (p.Arg76Trp) http://identifiers.org/clinvar/5530 ^@ NM_014249.3(NR2E3):c.227G>A (p.Arg76Gln) http://identifiers.org/clinvar/5531 ^@ NR2E3, 9-BP DEL http://identifiers.org/clinvar/5532 ^@ NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln) http://identifiers.org/clinvar/5533 ^@ NM_014249.3(NR2E3):c.166G>A (p.Gly56Arg) http://identifiers.org/clinvar/5534 ^@ NR2E3, 5-BP DEL, NT1034 http://identifiers.org/clinvar/5535 ^@ NM_007199.2(IRAK3):c.227G>A (p.Trp76Ter) http://identifiers.org/clinvar/5536 ^@ IRAK3, IVS3, G-T, +1 http://identifiers.org/clinvar/5537 ^@ NM_080424.2(SP110):c.642delC (p.Ser215Alafs) http://identifiers.org/clinvar/5538 ^@ NM_080424.2(SP110):c.40delC (p.Gln14Serfs) http://identifiers.org/clinvar/5539 ^@ NM_080424.2(SP110):c.1274C= (p.Ser425=) http://identifiers.org/clinvar/5540 ^@ NM_080424.2(SP110):c.752-483C>T http://identifiers.org/clinvar/5541 ^@ NM_005472.4(KCNE3):c.248G>A (p.Arg83His) http://identifiers.org/clinvar/5542 ^@ NM_005472.4(KCNE3):c.296G>A (p.Arg99His) http://identifiers.org/clinvar/5543 ^@ NM_006783.4(GJB6):c.14C>T (p.Thr5Met) http://identifiers.org/clinvar/5544 ^@ NM_006783.4(GJB6):c.31G>A (p.Gly11Arg) http://identifiers.org/clinvar/5545 ^@ NM_006783.4(GJB6):c.263C>T (p.Ala88Val) http://identifiers.org/clinvar/5546 ^@ GJB6, 309-KB DEL http://identifiers.org/clinvar/5547 ^@ NM_006783.4(GJB6):c.110T>A (p.Val37Glu) http://identifiers.org/clinvar/5548 ^@ NC_000013.11:g.(20228574_20228587)_(20460616_20460629)del http://identifiers.org/clinvar/5549 ^@ NM_005708.4(GPC6):c.778delC (p.Leu260Phefs) http://identifiers.org/clinvar/5550 ^@ NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT http://identifiers.org/clinvar/5551 ^@ NC_000013.11:g.94252984_94352299del99316insCTA http://identifiers.org/clinvar/5552 ^@ NM_005708.4(GPC6):c.700C>T (p.Arg234Ter) http://identifiers.org/clinvar/5553 ^@ NM_005708.3(GPC6):c.712_877dup166 http://identifiers.org/clinvar/5554 ^@ NM_005708.3(GPC6):c.320_711del392 http://identifiers.org/clinvar/5555 ^@ NM_005708.3(GPC6):c.320_711del392 http://identifiers.org/clinvar/5556 ^@ NM_003896.3(ST3GAL5):c.862C>T (p.Arg288Ter) http://identifiers.org/clinvar/5557 ^@ NM_014381.2(MLH3):c.2482G>T (p.Glu828Ter) http://identifiers.org/clinvar/5558 ^@ NM_001040108.1(MLH3):c.70C>G (p.Gln24Glu) http://identifiers.org/clinvar/5559 ^@ NM_001040108.1(MLH3):c.1496A>G (p.Asn499Ser) http://identifiers.org/clinvar/5560 ^@ NM_001040108.1(MLH3):c.1870G>C (p.Glu624Gln) http://identifiers.org/clinvar/5561 ^@ NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) http://identifiers.org/clinvar/5562 ^@ NM_001040108.1(MLH3):c.4351G>A (p.Glu1451Lys) http://identifiers.org/clinvar/5563 ^@ MLH3, 1-BP DEL, 885G http://identifiers.org/clinvar/5564 ^@ NM_001040108.1(MLH3):c.3826T>C (p.Trp1276Arg) http://identifiers.org/clinvar/5565 ^@ NM_014336.4(AIPL1):c.834G>A (p.Trp278Ter) http://identifiers.org/clinvar/5566 ^@ NM_014336.4(AIPL1):c.1010_1011delAG (p.Glu337Alafs) http://identifiers.org/clinvar/5567 ^@ NM_014336.4(AIPL1):c.715T>C (p.Cys239Arg) http://identifiers.org/clinvar/5568 ^@ NM_014336.4(AIPL1):c.1053_1064delTGCAGAGCCACC (p.Ala352_Pro355del) http://identifiers.org/clinvar/5569 ^@ NM_014112.4(TRPS1):c.1053C>A (p.Cys351Ter) http://identifiers.org/clinvar/5570 ^@ NM_014112.4(TRPS1):c.1870C>T (p.Arg624Ter) http://identifiers.org/clinvar/5571 ^@ TRPS1, 1-BP INS, 2406G http://identifiers.org/clinvar/5572 ^@ TRPS1, 1-BP INS, 2441T http://identifiers.org/clinvar/5573 ^@ NM_014112.4(TRPS1):c.2557C>T (p.Arg853Ter) http://identifiers.org/clinvar/5574 ^@ TRPS1, 4-BP INS, 3360GGAG http://identifiers.org/clinvar/5575 ^@ NM_014112.4(TRPS1):c.2740A>C (p.Thr914Pro) http://identifiers.org/clinvar/5576 ^@ NM_014112.4(TRPS1):c.3315C>G (p.Tyr1105Ter) http://identifiers.org/clinvar/5577 ^@ NM_014112.4(TRPS1):c.2762G>A (p.Arg921Gln) http://identifiers.org/clinvar/5578 ^@ NM_014112.4(TRPS1):c.2795C>T (p.Ala932Val) http://identifiers.org/clinvar/5579 ^@ NM_014112.4(TRPS1):c.2893C>T (p.Arg965Cys) http://identifiers.org/clinvar/5580 ^@ NM_014112.4(TRPS1):c.2894G>A (p.Arg965His) http://identifiers.org/clinvar/5581 ^@ ATP2C1, 4-BP INS, 767CCCT http://identifiers.org/clinvar/5582 ^@ NM_001001486.1(ATP2C1):c.910G>A (p.Ala304Thr) http://identifiers.org/clinvar/5583 ^@ NM_001001486.1(ATP2C1):c.1402C>T (p.Arg468Ter) http://identifiers.org/clinvar/5584 ^@ ATP2C1, 4-BP DEL, 2374TTTG http://identifiers.org/clinvar/5585 ^@ ATP2C1, IVS11, G-A, -1 http://identifiers.org/clinvar/5586 ^@ NM_001001486.1(ATP2C1):c.1469G>T (p.Cys490Phe) http://identifiers.org/clinvar/5587 ^@ ATP2C1, 1-BP DEL, 2460G http://identifiers.org/clinvar/5588 ^@ NM_001001486.1(ATP2C1):c.1751T>C (p.Leu584Pro) http://identifiers.org/clinvar/5589 ^@ ATP2C1, IVS22, G-A, +1 http://identifiers.org/clinvar/5590 ^@ CHEK2, 1-BP DEL, 1100C http://identifiers.org/clinvar/5591 ^@ NM_007194.3(CHEK2):c.470T>C (p.Ile157Thr) http://identifiers.org/clinvar/5592 ^@ NM_007194.3(CHEK2):c.433C>T (p.Arg145Trp) http://identifiers.org/clinvar/5593 ^@ CHEK2, 1-BP DEL, 1422T http://identifiers.org/clinvar/5594 ^@ NM_007194.3(CHEK2):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/5595 ^@ NM_007194.3(CHEK2):c.49G>T (p.Ala17Ser) http://identifiers.org/clinvar/5596 ^@ NM_007194.3(CHEK2):c.539G>A (p.Arg180His) http://identifiers.org/clinvar/5597 ^@ NM_007194.3(CHEK2):c.541C>T (p.Arg181Cys) http://identifiers.org/clinvar/5598 ^@ NM_007194.3(CHEK2):c.542G>A (p.Arg181His) http://identifiers.org/clinvar/5599 ^@ NM_007194.3(CHEK2):c.715G>T (p.Glu239Ter) http://identifiers.org/clinvar/5600 ^@ NM_007194.3(CHEK2):c.715G>A (p.Glu239Lys) http://identifiers.org/clinvar/5601 ^@ nsv513775 http://identifiers.org/clinvar/5602 ^@ CHEK2, IVS2DS, G-A, +1 http://identifiers.org/clinvar/5603 ^@ NM_007194.3(CHEK2):c.1283C>T (p.Ser428Phe) http://identifiers.org/clinvar/5604 ^@ NM_012144.3(DNAI1):c.48+2dupT (p.Ser17ValfsTer12) http://identifiers.org/clinvar/5605 ^@ NM_012144.3(DNAI1):c.282_283insAATA (p.Gly95Asnfs) http://identifiers.org/clinvar/5606 ^@ NM_012144.3(DNAI1):c.1543G>A (p.Gly515Ser) http://identifiers.org/clinvar/5607 ^@ NM_012144.3(DNAI1):c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) http://identifiers.org/clinvar/5608 ^@ NM_006017.2(PROM1):c.1841delG (p.Gly614Glufs) http://identifiers.org/clinvar/5609 ^@ NM_006017.2(PROM1):c.1726C>T (p.Gln576Ter) http://identifiers.org/clinvar/5610 ^@ NM_006017.2(PROM1):c.1117C>T (p.Arg373Cys) http://identifiers.org/clinvar/5611 ^@ NM_007255.2(B4GALT7):c.557C>A (p.Ala186Asp) http://identifiers.org/clinvar/5612 ^@ NM_007255.2(B4GALT7):c.617T>C (p.Leu206Pro) http://identifiers.org/clinvar/5613 ^@ NM_007255.2(B4GALT7):c.808C>T (p.Arg270Cys) http://identifiers.org/clinvar/5614 ^@ NM_181675.3(PPP2R2B):c.27_29CAG(7_28) (p.Ser17_Ser19del) http://identifiers.org/clinvar/5615 ^@ NM_012434.4(SLC17A5):c.115C>T (p.Arg39Cys) http://identifiers.org/clinvar/5616 ^@ SLC17A5, 1-BP DEL, 533C http://identifiers.org/clinvar/5617 ^@ SLC17A5, 148-BP DEL, NT1112 http://identifiers.org/clinvar/5618 ^@ NM_012434.4(SLC17A5):c.548A>G (p.His183Arg) http://identifiers.org/clinvar/5619 ^@ NM_012434.4(SLC17A5):c.1001C>G (p.Pro334Arg) http://identifiers.org/clinvar/5620 ^@ SLC17A5, 500-BP INS, NT978 http://identifiers.org/clinvar/5621 ^@ SLC17A5, 15-BP DEL, NT802 http://identifiers.org/clinvar/5624 ^@ NM_001099274.1(TINF2):c.838A>G (p.Lys280Glu) http://identifiers.org/clinvar/5625 ^@ NM_001099274.1(TINF2):c.845G>A (p.Arg282His) http://identifiers.org/clinvar/5626 ^@ NM_001099274.1(TINF2):c.844C>A (p.Arg282Ser) http://identifiers.org/clinvar/13566 ^@ ITGB3, 11-BP DEL, EX12 http://identifiers.org/clinvar/13567 ^@ NM_000212.2(ITGB3):c.428T>G (p.Leu143Trp) http://identifiers.org/clinvar/13568 ^@ NM_000212.2(ITGB3):c.836A>T (p.Lys279Met) http://identifiers.org/clinvar/13569 ^@ NM_000212.2(ITGB3):c.740G>A (p.Gly247Asp) http://identifiers.org/clinvar/13571 ^@ SERPINE1, 2-BP INS, 4977TA http://identifiers.org/clinvar/13572 ^@ NM_000602.4(SERPINE1):c.-820_-817G(4_5) http://identifiers.org/clinvar/13573 ^@ NM_000602.4(SERPINE1):c.43G>A (p.Ala15Thr) http://identifiers.org/clinvar/13574 ^@ NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) http://identifiers.org/clinvar/13575 ^@ NM_000301.3(PLG):c.1120G>T (p.Val374Phe) http://identifiers.org/clinvar/13576 ^@ NM_000301.3(PLG):c.1771T>C (p.Ser591Pro) http://identifiers.org/clinvar/13577 ^@ NM_000301.3(PLG):c.704G>A (p.Arg235His) http://identifiers.org/clinvar/13578 ^@ NM_000301.3(PLG):c.1848G>A (p.Trp616Ter) http://identifiers.org/clinvar/13579 ^@ NM_000301.3(PLG):c.1435G>T (p.Glu479Ter) http://identifiers.org/clinvar/13580 ^@ NM_000301.3(PLG):c.2251G>A (p.Gly751Arg) http://identifiers.org/clinvar/13581 ^@ NM_000301.3(PLG):c.691_693delAAG (p.Lys231del) http://identifiers.org/clinvar/13582 ^@ NM_000301.3(PLG):c.2125+1delG http://identifiers.org/clinvar/13583 ^@ NM_000301.3(PLG):c.112A>G (p.Lys38Glu) http://identifiers.org/clinvar/13584 ^@ ENPP1, IVS20AS, 1-BP DEL, T, -11 http://identifiers.org/clinvar/13585 ^@ NM_006208.2(ENPP1):c.2677G>T (p.Glu893Ter) http://identifiers.org/clinvar/13586 ^@ NM_006208.2(ENPP1):c.2320C>T (p.Arg774Cys) http://identifiers.org/clinvar/13587 ^@ ENPP1, 11-BP DEL, NT1072 http://identifiers.org/clinvar/13588 ^@ NM_006208.2(ENPP1):c.1737G>C (p.Leu579Phe) http://identifiers.org/clinvar/13589 ^@ NM_006208.2(ENPP1):c.517A>C (p.Lys173Gln) http://identifiers.org/clinvar/13590 ^@ NM_006208.2(ENPP1):c.*1043A>G http://identifiers.org/clinvar/13591 ^@ NM_006208.2(ENPP1):c.1025G>T (p.Gly342Val) http://identifiers.org/clinvar/13592 ^@ NM_006208.2(ENPP1):c.1112A>T (p.Tyr371Phe) http://identifiers.org/clinvar/13593 ^@ NG_008206.1:g.82749_88363del5615 http://identifiers.org/clinvar/13594 ^@ NM_006208.2(ENPP1):c.797G>T (p.Gly266Val) http://identifiers.org/clinvar/13595 ^@ NM_006208.2(ENPP1):c.2248dupA (p.Ser750Lysfs) http://identifiers.org/clinvar/13596 ^@ NM_006208.2(ENPP1):c.2702A>C (p.Tyr901Ser) http://identifiers.org/clinvar/13597 ^@ NM_006208.2(ENPP1):c.783C>G (p.Tyr261Ter) http://identifiers.org/clinvar/13598 ^@ ENPP1, 2-BP DEL, 878AA http://identifiers.org/clinvar/13599 ^@ NM_021991.2(JUP):c.2038_2039delTG (p.Trp680Glyfs) http://identifiers.org/clinvar/13600 ^@ NM_002230.2(JUP):c.116_118dupGCA (p.Ser39_Lys40insSer) http://identifiers.org/clinvar/13601 ^@ NM_001195291.2(SERPINB6):c.745G>T (p.Glu249Ter) http://identifiers.org/clinvar/13602 ^@ NM_001122757.2(POU1F1):c.592C>T (p.Arg198Ter) http://identifiers.org/clinvar/13603 ^@ NM_001122757.2(POU1F1):c.889C>T (p.Arg297Trp) http://identifiers.org/clinvar/13604 ^@ NM_001122757.2(POU1F1):c.550G>C (p.Ala184Pro) http://identifiers.org/clinvar/13605 ^@ NM_001122757.2(POU1F1):c.71C>T (p.Pro24Leu) http://identifiers.org/clinvar/13606 ^@ NM_001122757.2(POU1F1):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/13607 ^@ NM_001122757.2(POU1F1):c.826G>T (p.Glu276Ter) http://identifiers.org/clinvar/13608 ^@ NM_001122757.2(POU1F1):c.482T>G (p.Phe161Cys) http://identifiers.org/clinvar/13609 ^@ NM_001122757.2(POU1F1):c.793C>T (p.Pro265Ser) http://identifiers.org/clinvar/13610 ^@ NM_001122757.2(POU1F1):c.825delA (p.Glu276Asnfs) http://identifiers.org/clinvar/13611 ^@ NM_001122757.2(POU1F1):c.655T>C (p.Trp219Arg) http://identifiers.org/clinvar/13612 ^@ NM_001122757.2(POU1F1):c.511A>T (p.Lys171Ter) http://identifiers.org/clinvar/13613 ^@ NM_001122757.2(POU1F1):c.766G>A (p.Glu256Lys) http://identifiers.org/clinvar/13614 ^@ NM_001122757.2(POU1F1):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/13615 ^@ NM_001122757.2(POU1F1):c.853dupA (p.Arg285Lysfs) http://identifiers.org/clinvar/13616 ^@ NM_001122757.2(POU1F1):c.615C>G (p.Ser205Arg) http://identifiers.org/clinvar/13617 ^@ PHKB, 1-BP INS http://identifiers.org/clinvar/13618 ^@ NM_000293.2(PHKB):c.1969C>T (p.Gln657Ter) http://identifiers.org/clinvar/13619 ^@ NM_000293.2(PHKB):c.306-2A>G http://identifiers.org/clinvar/13620 ^@ NM_000293.2(PHKB):c.1257T>A (p.Tyr419Ter) http://identifiers.org/clinvar/242789 ^@ NM_000293.2(PHKB):c.2923T>C (p.Tyr975His) http://identifiers.org/clinvar/13622 ^@ NM_000293.2(PHKB):c.352G>C (p.Ala118Pro) http://identifiers.org/clinvar/13623 ^@ NM_004577.3(PSPH):c.94G>A (p.Asp32Asn) http://identifiers.org/clinvar/13624 ^@ NM_004577.3(PSPH):c.155T>C (p.Met52Thr) http://identifiers.org/clinvar/13625 ^@ PHKG2, 1-BP INS http://identifiers.org/clinvar/13626 ^@ NM_000294.2(PHKG2):c.566G>A (p.Gly189Glu) http://identifiers.org/clinvar/13627 ^@ NM_000294.2(PHKG2):c.317T>A (p.Val106Glu) http://identifiers.org/clinvar/13628 ^@ NM_000294.2(PHKG2):c.130C>T (p.Arg44Ter) http://identifiers.org/clinvar/13629 ^@ PHKG2, 1-BP DEL, 277C http://identifiers.org/clinvar/13630 ^@ NM_000294.2(PHKG2):c.433C>T (p.His145Tyr) http://identifiers.org/clinvar/13631 ^@ NM_000294.2(PHKG2):c.677T>G (p.Leu226Arg) http://identifiers.org/clinvar/13632 ^@ NM_005956.3(MTHFD1):c.878G>A (p.Arg293His) http://identifiers.org/clinvar/13633 ^@ NM_005956.3(MTHFD1):c.1958G>A (p.Arg653Gln) http://identifiers.org/clinvar/13634 ^@ NC_000020.11:g.45919554C>T http://identifiers.org/clinvar/13635 ^@ NM_000300.3(PLA2G2A):c.144_145delTG (p.Cys48Trpfs) http://identifiers.org/clinvar/13636 ^@ NM_002667.4(PLN):c.25C>T (p.Arg9Cys) http://identifiers.org/clinvar/13637 ^@ NM_002667.4(PLN):c.116T>G (p.Leu39Ter) http://identifiers.org/clinvar/13638 ^@ PLN, 3-BP DEL, 39AGA http://identifiers.org/clinvar/13639 ^@ NM_000175.4(GPI):c.475G>A (p.Gly159Ser) http://identifiers.org/clinvar/13640 ^@ NM_000175.4(GPI):c.1040G>A (p.Arg347His) http://identifiers.org/clinvar/13641 ^@ NM_000175.4(GPI):c.1574T>C (p.Ile525Thr) http://identifiers.org/clinvar/13642 ^@ NM_000175.4(GPI):c.1615G>A (p.Asp539Asn) http://identifiers.org/clinvar/13643 ^@ NM_000175.4(GPI):c.671C>T (p.Thr224Met) http://identifiers.org/clinvar/13644 ^@ NM_000175.4(GPI):c.59A>C (p.His20Pro) http://identifiers.org/clinvar/13645 ^@ NM_000175.4(GPI):c.1016T>C (p.Leu339Pro) http://identifiers.org/clinvar/13646 ^@ NM_000175.4(GPI):c.1028A>G (p.Gln343Arg) http://identifiers.org/clinvar/13647 ^@ NM_000175.4(GPI):c.14C>T (p.Thr5Ile) http://identifiers.org/clinvar/13648 ^@ NM_000175.4(GPI):c.1124C>G (p.Thr375Arg) http://identifiers.org/clinvar/13650 ^@ NM_002633.2(PGM1):c.343A>G (p.Thr115Ala) http://identifiers.org/clinvar/13651 ^@ NM_002633.2(PGM1):c.1145-1G>C http://identifiers.org/clinvar/13652 ^@ NM_006218.3(PIK3CA):c.3140A>G (p.His1047Arg) http://identifiers.org/clinvar/13653 ^@ NM_006218.3(PIK3CA):c.3140A>T (p.His1047Leu) http://identifiers.org/clinvar/13654 ^@ NM_006218.3(PIK3CA):c.1636C>G (p.Gln546Glu) http://identifiers.org/clinvar/13655 ^@ NM_006218.3(PIK3CA):c.1633G>A (p.Glu545Lys) http://identifiers.org/clinvar/13656 ^@ NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly) http://identifiers.org/clinvar/13657 ^@ NM_006218.3(PIK3CA):c.1636C>A (p.Gln546Lys) http://identifiers.org/clinvar/13658 ^@ NM_006218.3(PIK3CA):c.3203dupA (p.Asn1068Lysfs) http://identifiers.org/clinvar/13659 ^@ NM_006218.3(PIK3CA):c.1634A>C (p.Glu545Ala) http://identifiers.org/clinvar/156451 ^@ NM_006218.3(PIK3CA):c.1634A>C (p.Glu545Ala) http://identifiers.org/clinvar/13660 ^@ NM_001632.3(ALPP):c.74C= (p.Pro25=) http://identifiers.org/clinvar/13661 ^@ NM_001632.3(ALPP):c.74C>T (p.Pro25Leu) http://identifiers.org/clinvar/13662 ^@ NM_000478.5(ALPL):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/13663 ^@ NM_000478.5(ALPL):c.211C>T (p.Arg71Cys) http://identifiers.org/clinvar/13664 ^@ NM_000478.5(ALPL):c.881A>C (p.Asp294Ala) http://identifiers.org/clinvar/13665 ^@ NM_000478.5(ALPL):c.212G>C (p.Arg71Pro) http://identifiers.org/clinvar/13666 ^@ NM_000478.5(ALPL):c.620A>C (p.Gln207Pro) http://identifiers.org/clinvar/13667 ^@ NM_000478.5(ALPL):c.98C>T (p.Ala33Val) http://identifiers.org/clinvar/13668 ^@ NM_000478.5(ALPL):c.1306T>C (p.Tyr436His) http://identifiers.org/clinvar/13669 ^@ NM_000478.5(ALPL):c.892G>A (p.Glu298Lys) http://identifiers.org/clinvar/13670 ^@ NM_000478.5(ALPL):c.571G>A (p.Glu191Lys) http://identifiers.org/clinvar/13671 ^@ NM_000478.5(ALPL):c.1133A>T (p.Asp378Val) http://identifiers.org/clinvar/13672 ^@ NM_000478.5(ALPL):c.1001G>A (p.Gly334Asp) http://identifiers.org/clinvar/13673 ^@ NM_000478.5(ALPL):c.979T>C (p.Phe327Leu) http://identifiers.org/clinvar/13674 ^@ NM_000478.5(ALPL):c.1559delT (p.Leu520Argfs) http://identifiers.org/clinvar/13675 ^@ NM_000478.5(ALPL):c.407G>A (p.Arg136His) http://identifiers.org/clinvar/13676 ^@ NM_000478.5(ALPL):c.485G>T (p.Gly162Val) http://identifiers.org/clinvar/13677 ^@ NM_000478.5(ALPL):c.346G>A (p.Ala116Thr) http://identifiers.org/clinvar/13678 ^@ NM_000478.5(ALPL):c.648+1G>A http://identifiers.org/clinvar/13679 ^@ NM_000478.5(ALPL):c.1250A>G (p.Asn417Ser) http://identifiers.org/clinvar/13680 ^@ NM_000478.5(ALPL):c.323C>T (p.Pro108Leu) http://identifiers.org/clinvar/13681 ^@ NM_000478.5(ALPL):c.1366G>A (p.Gly456Arg) http://identifiers.org/clinvar/13682 ^@ NM_000478.5(ALPL):c.746G>T (p.Gly249Val) http://identifiers.org/clinvar/13683 ^@ NM_000478.5(ALPL):c.526G>A (p.Ala176Thr) http://identifiers.org/clinvar/13684 ^@ NM_000478.5(ALPL):c.814C>T (p.Arg272Cys) http://identifiers.org/clinvar/13685 ^@ NM_004300.3(ACP1):c.317A>G (p.Gln106Arg) http://identifiers.org/clinvar/13686 ^@ NM_018849.2(ABCB4):c.394_400delTATATAC (p.Tyr132Lysfs) http://identifiers.org/clinvar/13687 ^@ NM_018849.2(ABCB4):c.2869C>T (p.Arg957Ter) http://identifiers.org/clinvar/13688 ^@ NM_018849.2(ABCB4):c.1712delT (p.Val571Aspfs) http://identifiers.org/clinvar/13689 ^@ NM_018849.2(ABCB4):c.1637C>A (p.Ala546Asp) http://identifiers.org/clinvar/13690 ^@ NM_000443.3(ABCB4):c.959C>T (p.Ser320Phe) http://identifiers.org/clinvar/13691 ^@ NM_000443.3(ABCB4):c.523A>G (p.Thr175Ala) http://identifiers.org/clinvar/13692 ^@ NM_018849.2(ABCB4):c.3502C>T (p.Pro1168Ser) http://identifiers.org/clinvar/13693 ^@ NM_018849.2(ABCB4):c.1328_1329delAGinsCAA (p.Gln443Profs) http://identifiers.org/clinvar/13694 ^@ NM_018849.2(ABCB4):c.2169dupG (p.Leu724Alafs) http://identifiers.org/clinvar/13695 ^@ NM_018849.2(ABCB4):c.1207T>C (p.Tyr403His) http://identifiers.org/clinvar/13696 ^@ NM_018849.2(ABCB4):c.430C>T (p.Arg144Ter) http://identifiers.org/clinvar/13697 ^@ NM_000443.3(ABCB4):c.1769G>A (p.Arg590Gln) http://identifiers.org/clinvar/13698 ^@ NM_000927.4(ABCB1):c.554G>T (p.Gly185Val) http://identifiers.org/clinvar/13699 ^@ ABCB1, ALA893SER/THR http://identifiers.org/clinvar/13701 ^@ NM_005036.4(PPARA):c.484C>G (p.Leu162Val) http://identifiers.org/clinvar/13702 ^@ NM_002858.3(ABCD3):c.1902_1903insATTTGTATTTCTTTCATTGAATG http://identifiers.org/clinvar/13703 ^@ NM_002858.3(ABCD3):c.50G>A (p.Gly17Asp) http://identifiers.org/clinvar/13704 ^@ NM_000318.2(PEX2):c.355C>T (p.Arg119Ter) http://identifiers.org/clinvar/13705 ^@ NM_001079867.1(PEX2):c.163G>A (p.Glu55Lys) http://identifiers.org/clinvar/13706 ^@ PRPH, 1-BP DEL, 228C http://identifiers.org/clinvar/13707 ^@ NM_006262.3(PRPH):c.421G>T (p.Asp141Tyr) http://identifiers.org/clinvar/13708 ^@ PRF1, 1-BP DEL, 50T http://identifiers.org/clinvar/13709 ^@ NM_001083116.1(PRF1):c.1122G>A (p.Trp374Ter) http://identifiers.org/clinvar/13710 ^@ NM_001083116.1(PRF1):c.190C>T (p.Gln64Ter) http://identifiers.org/clinvar/13711 ^@ NM_001083116.1(PRF1):c.673C>T (p.Arg225Trp) http://identifiers.org/clinvar/13712 ^@ NM_001083116.1(PRF1):c.1286G>A (p.Gly429Glu) http://identifiers.org/clinvar/13713 ^@ NM_001083116.1(PRF1):c.1034C>T (p.Pro345Leu) http://identifiers.org/clinvar/13714 ^@ NM_001083116.1(PRF1):c.836G>A (p.Cys279Tyr) http://identifiers.org/clinvar/13715 ^@ NM_001083116.1(PRF1):c.548T>G (p.Val183Gly) http://identifiers.org/clinvar/13716 ^@ NM_001083116.1(PRF1):c.755A>G (p.Asn252Ser) http://identifiers.org/clinvar/13717 ^@ NM_001083116.1(PRF1):c.1304C>T (p.Thr435Met) http://identifiers.org/clinvar/13718 ^@ NM_001083116.1(PRF1):c.272C>T (p.Ala91Val) http://identifiers.org/clinvar/13719 ^@ NM_001083116.1(PRF1):c.1163G>T (p.Ser388Ile) http://identifiers.org/clinvar/13720 ^@ NM_001083116.1(PRF1):c.11G>A (p.Arg4His) http://identifiers.org/clinvar/13721 ^@ NM_005041.4(PRF1):c.1090_1091delCT (p.Leu364Glufs) http://identifiers.org/clinvar/13722 ^@ NM_005041.4(PRF1):c.207delC (p.Asp70Thrfs) http://identifiers.org/clinvar/13723 ^@ NM_001083116.1(PRF1):c.1246C>T (p.Gln416Ter) http://identifiers.org/clinvar/13724 ^@ NM_000544.3(TAP2):c.1135G>A (p.Val379Ile) http://identifiers.org/clinvar/13725 ^@ NM_000544.3(TAP2):c.1993G>A (p.Ala665Thr) http://identifiers.org/clinvar/13726 ^@ NM_000544.3(TAP2):c.2059C>T (p.Gln687Ter) http://identifiers.org/clinvar/13727 ^@ TAP2, ARG253TER http://identifiers.org/clinvar/13728 ^@ TAP2, 1-BP DEL http://identifiers.org/clinvar/13729 ^@ NM_000593.5(TAP1):c.1177A>G (p.Ile393Val) http://identifiers.org/clinvar/13730 ^@ NM_000593.5(TAP1):c.2090A>G (p.Asp697Gly) http://identifiers.org/clinvar/13731 ^@ NM_000593.5(TAP1):c.2156G>A (p.Arg719Gln) http://identifiers.org/clinvar/13732 ^@ TAP1, IVS1, G-A, -1 http://identifiers.org/clinvar/13733 ^@ NM_006249.5(PRB3):c.145C>T (p.Arg49Cys) http://identifiers.org/clinvar/13734 ^@ PRB3, 1-BP INS http://identifiers.org/clinvar/13735 ^@ NM_000446.5(PON1):c.575A>G (p.Gln192Arg) http://identifiers.org/clinvar/13736 ^@ NM_000446.5(PON1):c.163T>A (p.Leu55Met) http://identifiers.org/clinvar/13737 ^@ NM_000446.5(PON1):c.-108C>T http://identifiers.org/clinvar/13738 ^@ NM_198965.1(PTHLH):c.179T>C (p.Leu60Pro) http://identifiers.org/clinvar/13739 ^@ NM_198965.1(PTHLH):c.131T>C (p.Leu44Pro) http://identifiers.org/clinvar/13740 ^@ NM_198965.1(PTHLH):c.534A>G (p.Ter178Trp) http://identifiers.org/clinvar/13741 ^@ NM_198965.1(PTHLH):c.358A>T (p.Lys120Ter) http://identifiers.org/clinvar/13742 ^@ NM_000316.2(PTH1R):c.668A>G (p.His223Arg) http://identifiers.org/clinvar/13743 ^@ NM_000316.2(PTH1R):c.1228A>C (p.Thr410Pro) http://identifiers.org/clinvar/13744 ^@ NM_000316.2(PTH1R):c.1148G>A (p.Arg383Gln) http://identifiers.org/clinvar/13745 ^@ NM_000316.2(PTH1R):c.395C>T (p.Pro132Leu) http://identifiers.org/clinvar/13746 ^@ PTH1R, 1-BP DEL, 1122G http://identifiers.org/clinvar/13747 ^@ NM_000316.2(PTH1R):c.1373T>G (p.Ile458Arg) http://identifiers.org/clinvar/13748 ^@ NM_000316.2(PTH1R):c.1229C>G (p.Thr410Arg) http://identifiers.org/clinvar/13749 ^@ NM_000316.2(PTH1R):c.1453C>T (p.Arg485Ter) http://identifiers.org/clinvar/13750 ^@ NM_000316.2(PTH1R):c.310C>T (p.Arg104Ter) http://identifiers.org/clinvar/13751 ^@ PTH1R, IVSM4, C-T, +27 http://identifiers.org/clinvar/13752 ^@ PTH1R, IVS11AS, C-G, -3 http://identifiers.org/clinvar/13753 ^@ PTH1R, IVS8DS, G-A, +1 http://identifiers.org/clinvar/13754 ^@ NM_000316.2(PTH1R):c.463G>T (p.Glu155Ter) http://identifiers.org/clinvar/13755 ^@ NM_053056.2(CCND1):c.723G>A (p.Pro241=) http://identifiers.org/clinvar/13756 ^@ NM_000315.3(PTH):c.52T>C (p.Cys18Arg) http://identifiers.org/clinvar/13757 ^@ PTH, IVS2DS, G-C, +1, EX2DEL http://identifiers.org/clinvar/13758 ^@ NM_000315.3(PTH):c.67T>C (p.Ser23Pro) http://identifiers.org/clinvar/13759 ^@ NM_000315.3(PTH):c.247C>T (p.Arg83Ter) http://identifiers.org/clinvar/13760 ^@ NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) http://identifiers.org/clinvar/13761 ^@ NM_003122.4(SPINK1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/13762 ^@ SPINK1, -215G-A http://identifiers.org/clinvar/13763 ^@ SPINK1, -215G-T http://identifiers.org/clinvar/13764 ^@ NM_003122.4(SPINK1):c.41T>C (p.Leu14Pro) http://identifiers.org/clinvar/13765 ^@ NM_003122.4(SPINK1):c.41T>G (p.Leu14Arg) http://identifiers.org/clinvar/13766 ^@ SPINK1, 1.3-KB DEL http://identifiers.org/clinvar/13767 ^@ PAX9, 1-BP INS, 219G http://identifiers.org/clinvar/13768 ^@ NM_006194.3(PAX9):c.340A>T (p.Lys114Ter) http://identifiers.org/clinvar/13769 ^@ PAX9, DEL http://identifiers.org/clinvar/13770 ^@ NM_006194.3(PAX9):c.271A>G (p.Lys91Glu) http://identifiers.org/clinvar/13771 ^@ NM_006194.3(PAX9):c.62T>C (p.Leu21Pro) http://identifiers.org/clinvar/13772 ^@ PAX9, 288-BP INS http://identifiers.org/clinvar/13773 ^@ NM_006194.3(PAX9):c.83G>C (p.Arg28Pro) http://identifiers.org/clinvar/13774 ^@ NM_006194.3(PAX9):c.76C>T (p.Arg26Trp) http://identifiers.org/clinvar/13775 ^@ NM_006194.3(PAX9):c.259A>T (p.Ile87Phe) http://identifiers.org/clinvar/13776 ^@ PAX9, 1-BP INS, 793C http://identifiers.org/clinvar/13777 ^@ PAX9, 1A-G http://identifiers.org/clinvar/13778 ^@ PAX9, 3-BP DEL, 24-BP INS, NT619 http://identifiers.org/clinvar/13779 ^@ NM_006194.3(PAX9):c.151G>A (p.Gly51Ser) http://identifiers.org/clinvar/13780 ^@ PAX9, 1-BP INS, 190G http://identifiers.org/clinvar/13781 ^@ NM_006194.3(PAX9):c.139C>T (p.Arg47Trp) http://identifiers.org/clinvar/13782 ^@ NM_003466.3(PAX8):c.985T>C (p.Phe329Leu) http://identifiers.org/clinvar/13783 ^@ NM_013953.3(PAX8):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/13784 ^@ NM_013953.3(PAX8):c.92G>A (p.Arg31His) http://identifiers.org/clinvar/13785 ^@ NM_013953.3(PAX8):c.185T>G (p.Leu62Arg) http://identifiers.org/clinvar/13786 ^@ NM_013953.3(PAX8):c.170G>A (p.Cys57Tyr) http://identifiers.org/clinvar/13787 ^@ NM_013953.3(PAX8):c.160A>G (p.Ser54Gly) http://identifiers.org/clinvar/13788 ^@ NM_013953.3(PAX8):c.119A>C (p.Gln40Pro) http://identifiers.org/clinvar/13789 ^@ NM_013953.3(PAX8):c.143C>T (p.Ser48Phe) http://identifiers.org/clinvar/13790 ^@ NM_006193.2(PAX4):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/13791 ^@ NM_006193.2(PAX4):c.397C>T (p.Arg133Trp) http://identifiers.org/clinvar/13792 ^@ NM_006193.2(PAX4):c.109C>T (p.Arg37Trp) http://identifiers.org/clinvar/13793 ^@ NM_006193.2(PAX4):c.490C>T (p.Arg164Trp) http://identifiers.org/clinvar/13794 ^@ PAX4, IVS7, G-A, -1 http://identifiers.org/clinvar/13795 ^@ NM_003990.4(PAX2):c.561delC (p.Asn188Metfs) http://identifiers.org/clinvar/13797 ^@ NM_003990.4(PAX2):c.130_151del22 (p.Leu44Profs) http://identifiers.org/clinvar/13798 ^@ PAX2, 6-BP DEL http://identifiers.org/clinvar/13799 ^@ NM_003990.4(PAX2):c.226G>A (p.Gly76Ser) http://identifiers.org/clinvar/13800 ^@ NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) http://identifiers.org/clinvar/13801 ^@ NM_003990.4(PAX2):c.76delG (p.Val26Cysfs) http://identifiers.org/clinvar/13802 ^@ NM_003990.4(PAX2):c.75_76dupGG (p.Val26Glyfs) http://identifiers.org/clinvar/13803 ^@ NM_003990.4(PAX2):c.1023C>A (p.Tyr341Ter) http://identifiers.org/clinvar/13804 ^@ PAX2, 1318C-T http://identifiers.org/clinvar/13805 ^@ NM_003990.4(PAX2):c.212G>C (p.Arg71Thr) http://identifiers.org/clinvar/13806 ^@ NM_002539.2(ODC1):c.-128+109G>A http://identifiers.org/clinvar/13807 ^@ NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) http://identifiers.org/clinvar/13808 ^@ NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) http://identifiers.org/clinvar/13809 ^@ NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) http://identifiers.org/clinvar/13810 ^@ NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) http://identifiers.org/clinvar/13811 ^@ NM_005188.3(CBL):c.1111T>C (p.Tyr371His) http://identifiers.org/clinvar/13812 ^@ NM_030753.4(WNT3):c.247C>T (p.Gln83Ter) http://identifiers.org/clinvar/13813 ^@ GLI3, DEL http://identifiers.org/clinvar/13814 ^@ NM_000168.5(GLI3):c.2023delG (p.Glu675Serfs) http://identifiers.org/clinvar/13815 ^@ NM_000168.5(GLI3):c.2012delG (p.Gly671Glufs) http://identifiers.org/clinvar/13816 ^@ GLI3, CODON 764, FS http://identifiers.org/clinvar/13817 ^@ GLI3, 1-BP INS, 3647C http://identifiers.org/clinvar/13818 ^@ NM_000168.5(GLI3):c.3439G>T (p.Glu1147Ter) http://identifiers.org/clinvar/13819 ^@ GLI3, 1-BP DEL, 3707G http://identifiers.org/clinvar/13820 ^@ NM_000168.5(GLI3):c.1927C>T (p.Arg643Ter) http://identifiers.org/clinvar/13821 ^@ NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) http://identifiers.org/clinvar/13822 ^@ NM_000168.5(GLI3):c.1627G>T (p.Glu543Ter) http://identifiers.org/clinvar/13823 ^@ NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314 http://identifiers.org/clinvar/13824 ^@ NM_000168.5(GLI3):c.1873C>T (p.Arg625Trp) http://identifiers.org/clinvar/13825 ^@ NM_000168.5(GLI3):c.2800G>C (p.Ala934Pro) http://identifiers.org/clinvar/13826 ^@ NM_000168.5(GLI3):c.868C>T (p.Arg290Ter) http://identifiers.org/clinvar/13827 ^@ GLI3, 1-BP DEL, 2372C http://identifiers.org/clinvar/13828 ^@ NM_000168.5(GLI3):c.2374C>T (p.Arg792Ter) http://identifiers.org/clinvar/13829 ^@ NM_000168.5(GLI3):c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs) http://identifiers.org/clinvar/13830 ^@ NM_000168.5(GLI3):c.1486C>T (p.Gln496Ter) http://identifiers.org/clinvar/13831 ^@ NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) http://identifiers.org/clinvar/13832 ^@ GLI3, 4-BP DEL, 4542CCAC http://identifiers.org/clinvar/13833 ^@ GLI3, 1-BP DEL, 1018A http://identifiers.org/clinvar/13834 ^@ GLI2, 1-BP DEL, NT2274 http://identifiers.org/clinvar/13835 ^@ NM_005270.4(GLI2):c.1323G>A (p.Trp441Ter) http://identifiers.org/clinvar/13836 ^@ NM_005270.4(GLI2):c.1435C>G (p.Arg479Gly) http://identifiers.org/clinvar/13837 ^@ NM_005247.2(FGF3):c.466T>C (p.Ser156Pro) http://identifiers.org/clinvar/13838 ^@ NM_005247.2(FGF3):c.310C>T (p.Arg104Ter) http://identifiers.org/clinvar/13839 ^@ NM_005247.2(FGF3):c.616delG (p.Val206Serfs) http://identifiers.org/clinvar/13840 ^@ NM_005247.2(FGF3):c.196G>T (p.Gly66Cys) http://identifiers.org/clinvar/13841 ^@ NM_005247.2(FGF3):c.17T>C (p.Leu6Pro) http://identifiers.org/clinvar/13842 ^@ NM_005247.2(FGF3):c.255delT (p.Ile85Metfs) http://identifiers.org/clinvar/13843 ^@ NM_000222.2(KIT):c.1990G>A (p.Gly664Arg) http://identifiers.org/clinvar/13844 ^@ KIT, DEL http://identifiers.org/clinvar/13845 ^@ NM_000222.2(KIT):c.1752T>G (p.Phe584Leu) http://identifiers.org/clinvar/13846 ^@ NM_000222.2(KIT):c.1676_1681delTTGTTG (p.Val559_Val560del) http://identifiers.org/clinvar/13847 ^@ NM_000222.2(KIT):c.1925_1926delAA (p.Lys642Serfs) http://identifiers.org/clinvar/13848 ^@ NM_000222.2(KIT):c.1681dupG (p.Glu561Glyfs) http://identifiers.org/clinvar/13849 ^@ NM_000222.2(KIT):c.1747G>A (p.Glu583Lys) http://identifiers.org/clinvar/13850 ^@ NM_000222.2(KIT):c.253delG (p.Glu85Lysfs) http://identifiers.org/clinvar/13851 ^@ NM_000222.2(KIT):c.1879+1G>A http://identifiers.org/clinvar/13852 ^@ NM_000222.2(KIT):c.2447A>T (p.Asp816Val) http://identifiers.org/clinvar/13853 ^@ NM_000222.2(KIT):c.2459A>G (p.Asp820Gly) http://identifiers.org/clinvar/13854 ^@ NM_000222.2(KIT):c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del) http://identifiers.org/clinvar/13855 ^@ KIT, 15-BP DEL/LYS550ILE http://identifiers.org/clinvar/13856 ^@ NM_000222.2(KIT):c.1676T>A (p.Val559Asp) http://identifiers.org/clinvar/13857 ^@ NM_000222.2(KIT):c.1648_1674del27 (p.Lys550_Lys558del) http://identifiers.org/clinvar/13858 ^@ NM_000222.2(KIT):c.2386A>G (p.Arg796Gly) http://identifiers.org/clinvar/13859 ^@ NM_000222.2(KIT):c.1675_1677delGTT (p.Val560del) http://identifiers.org/clinvar/13860 ^@ NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) http://identifiers.org/clinvar/13861 ^@ NM_000222.2(KIT):c.2539A>C (p.Thr847Pro) http://identifiers.org/clinvar/13862 ^@ NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) http://identifiers.org/clinvar/13863 ^@ NM_000222.2(KIT):c.2446G>C (p.Asp816His) http://identifiers.org/clinvar/13864 ^@ NM_000222.2(KIT):c.1751T>G (p.Phe584Cys) http://identifiers.org/clinvar/13865 ^@ NM_000222.2(KIT):c.1676T>C (p.Val559Ala) http://identifiers.org/clinvar/13866 ^@ NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) http://identifiers.org/clinvar/13867 ^@ NM_005249.4(FOXG1):c.765G>A (p.Trp255Ter) http://identifiers.org/clinvar/13868 ^@ FOXG1, 1-BP DEL, 969C http://identifiers.org/clinvar/13869 ^@ NM_005249.4(FOXG1):c.624C>G (p.Tyr208Ter) http://identifiers.org/clinvar/13870 ^@ NM_005249.4(FOXG1):c.643T>C (p.Phe215Leu) http://identifiers.org/clinvar/13871 ^@ NM_005249.4(FOXG1):c.924G>A (p.Trp308Ter) http://identifiers.org/clinvar/13872 ^@ NM_005249.4(FOXG1):c.1200C>G (p.Tyr400Ter) http://identifiers.org/clinvar/13873 ^@ NM_001005862.2(ERBB2):c.1873A>G (p.Ile625Val) http://identifiers.org/clinvar/13874 ^@ NM_001005862.2(ERBB2):c.1870A>G (p.Ile624Val) http://identifiers.org/clinvar/13875 ^@ NM_001005862.2(ERBB2):c.2223_2234dupATACGTGATGGC (p.Ala745_Gly746insTyrValMetAla) http://identifiers.org/clinvar/13876 ^@ NM_004448.3(ERBB2):c.2328_2336dupTGTGGGCTC (p.Ser779_Pro780insValGlySer) http://identifiers.org/clinvar/13877 ^@ NM_001005862.2(ERBB2):c.2173_2174delTTinsCC (p.Leu725Pro) http://identifiers.org/clinvar/13878 ^@ NM_001005862.2(ERBB2):c.2650G>A (p.Glu884Lys) http://identifiers.org/clinvar/13879 ^@ NM_001005862.2(ERBB2):c.2236G>A (p.Gly746Ser) http://identifiers.org/clinvar/13880 ^@ NM_001005862.2(ERBB2):c.2480A>G (p.Asn827Ser) http://identifiers.org/clinvar/13881 ^@ NM_001127500.2(MET):c.3446T>C (p.Met1149Thr) http://identifiers.org/clinvar/13882 ^@ NM_001127500.2(MET):c.3616G>T (p.Val1206Leu) http://identifiers.org/clinvar/13883 ^@ NM_001127500.2(MET):c.3712G>A (p.Val1238Ile) http://identifiers.org/clinvar/13884 ^@ NM_001127500.2(MET):c.3736G>A (p.Asp1246Asn) http://identifiers.org/clinvar/13885 ^@ NM_001127500.2(MET):c.3743A>G (p.Tyr1248Cys) http://identifiers.org/clinvar/13886 ^@ NM_001127500.2(MET):c.3637C>G (p.Leu1213Val) http://identifiers.org/clinvar/13887 ^@ NM_001127500.2(MET):c.3335A>G (p.His1112Arg) http://identifiers.org/clinvar/13888 ^@ NM_001127500.2(MET):c.3572C>T (p.Thr1191Ile) http://identifiers.org/clinvar/13889 ^@ NM_001127500.2(MET):c.3804G>A (p.Met1268Ile) http://identifiers.org/clinvar/13890 ^@ NM_001127500.2(MET):c.3785A>G (p.Lys1262Arg) http://identifiers.org/clinvar/13891 ^@ NM_001127500.2(MET):c.-207C= http://identifiers.org/clinvar/13892 ^@ NM_005378.5(MYCN):c.1178G>A (p.Arg393His) http://identifiers.org/clinvar/13893 ^@ NM_005378.5(MYCN):c.1177C>A (p.Arg393Ser) http://identifiers.org/clinvar/13894 ^@ NM_005378.5(MYCN):c.1181G>A (p.Arg394His) http://identifiers.org/clinvar/13895 ^@ NM_005378.5(MYCN):c.231G>A (p.Trp77Ter) http://identifiers.org/clinvar/13896 ^@ NM_005378.5(MYCN):c.217G>T (p.Glu73Ter) http://identifiers.org/clinvar/13897 ^@ MYCN, 1-BP DUP, 626C http://identifiers.org/clinvar/13898 ^@ NM_005378.5(MYCN):c.1145G>A (p.Arg382His) http://identifiers.org/clinvar/13899 ^@ NM_002524.4(NRAS):c.37G>C (p.Gly13Arg) http://identifiers.org/clinvar/13900 ^@ NM_002524.4(NRAS):c.182A>G (p.Gln61Arg) http://identifiers.org/clinvar/13901 ^@ NM_002524.4(NRAS):c.38G>A (p.Gly13Asp) http://identifiers.org/clinvar/13902 ^@ NM_002524.4(NRAS):c.149C>T (p.Thr50Ile) http://identifiers.org/clinvar/13903 ^@ NM_002524.4(NRAS):c.179G>A (p.Gly60Glu) http://identifiers.org/clinvar/13904 ^@ NM_002392.5(MDM2):c.14+309T>G http://identifiers.org/clinvar/13905 ^@ NM_020630.4(RET):c.1852T>G (p.Cys618Gly) http://identifiers.org/clinvar/242788 ^@ NM_020975.4(RET):c.1896G>C (p.Glu632Asp) http://identifiers.org/clinvar/13907 ^@ NM_020975.4(RET):c.2293T>C (p.Ser765Pro) http://identifiers.org/clinvar/13908 ^@ NM_020975.4(RET):c.1900T>G (p.Cys634Gly) http://identifiers.org/clinvar/13909 ^@ NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) http://identifiers.org/clinvar/13910 ^@ NM_020630.4(RET):c.1901G>C (p.Cys634Ser) http://identifiers.org/clinvar/13911 ^@ NM_020630.4(RET):c.1901G>T (p.Cys634Phe) http://identifiers.org/clinvar/13912 ^@ NM_020975.4(RET):c.406G>T (p.Glu136Ter) http://identifiers.org/clinvar/13913 ^@ NM_020630.4(RET):c.1833C>G (p.Cys611Trp) http://identifiers.org/clinvar/13914 ^@ NM_020975.4(RET):c.1853G>C (p.Cys618Ser) http://identifiers.org/clinvar/13915 ^@ NM_020630.4(RET):c.1858T>C (p.Cys620Arg) http://identifiers.org/clinvar/13916 ^@ NM_020630.4(RET):c.1859G>A (p.Cys620Tyr) http://identifiers.org/clinvar/13917 ^@ NM_020975.4(RET):c.1900T>C (p.Cys634Arg) http://identifiers.org/clinvar/13918 ^@ NM_020630.4(RET):c.1902C>G (p.Cys634Trp) http://identifiers.org/clinvar/13919 ^@ NM_020975.4(RET):c.2753T>C (p.Met918Thr) http://identifiers.org/clinvar/13920 ^@ RET, 1-BP DEL, G1120 http://identifiers.org/clinvar/13921 ^@ NM_020975.4(RET):c.2690G>A (p.Arg897Gln) http://identifiers.org/clinvar/13922 ^@ NM_020975.4(RET):c.2914A>G (p.Arg972Gly) http://identifiers.org/clinvar/13923 ^@ NM_020975.4(RET):c.95C>T (p.Ser32Leu) http://identifiers.org/clinvar/13924 ^@ NM_020975.4(RET):c.191C>T (p.Pro64Leu) http://identifiers.org/clinvar/13925 ^@ NM_020975.4(RET):c.538C>T (p.Arg180Ter) http://identifiers.org/clinvar/13926 ^@ NM_020975.4(RET):c.989G>A (p.Arg330Gln) http://identifiers.org/clinvar/13927 ^@ NM_020975.4(RET):c.1179C>A (p.Phe393Leu) http://identifiers.org/clinvar/13928 ^@ NM_020630.4(RET):c.1859G>T (p.Cys620Phe) http://identifiers.org/clinvar/13929 ^@ NM_020630.4(RET):c.1852T>C (p.Cys618Arg) http://identifiers.org/clinvar/13930 ^@ RET, 12-BP DUP http://identifiers.org/clinvar/13931 ^@ NM_020630.4(RET):c.2304G>C (p.Glu768Asp) http://identifiers.org/clinvar/13932 ^@ NM_020975.4(RET):c.938G>A (p.Arg313Gln) http://identifiers.org/clinvar/13933 ^@ NM_020975.4(RET):c.1826G>A (p.Cys609Tyr) http://identifiers.org/clinvar/13934 ^@ NM_020630.4(RET):c.1860C>G (p.Cys620Trp) http://identifiers.org/clinvar/13935 ^@ NM_020975.4(RET):c.2370G>C (p.Leu790Phe) http://identifiers.org/clinvar/13936 ^@ NM_020975.4(RET):c.2372A>T (p.Tyr791Phe) http://identifiers.org/clinvar/13937 ^@ NM_020975.4(RET):c.692G>A (p.Arg231His) http://identifiers.org/clinvar/13938 ^@ NM_020975.4(RET):c.2944C>T (p.Arg982Cys) http://identifiers.org/clinvar/13939 ^@ NM_020975.4(RET):c.1941C>T (p.Ile647=) http://identifiers.org/clinvar/13940 ^@ NM_020975.4(RET):c.135G>A (p.Ala45=) http://identifiers.org/clinvar/13941 ^@ NM_020630.4(RET):c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys) http://identifiers.org/clinvar/13942 ^@ NM_020630.4(RET):c.1919C>G (p.Ala640Gly) http://identifiers.org/clinvar/13943 ^@ NM_020630.4(RET):c.1859G>C (p.Cys620Ser) http://identifiers.org/clinvar/13944 ^@ NM_020630.4(RET):c.1825T>C (p.Cys609Arg) http://identifiers.org/clinvar/37102 ^@ NM_020975.4(RET):c.2410G>A (p.Val804Met) http://identifiers.org/clinvar/13946 ^@ NM_020630.4(RET):c.2410G>T (p.Val804Leu) http://identifiers.org/clinvar/13947 ^@ NM_020975.4(RET):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/13948 ^@ NM_020630.4(RET):c.3116C>T (p.Pro1039Leu) http://identifiers.org/clinvar/13949 ^@ NM_020975.4(RET):c.1942G>A (p.Val648Ile) http://identifiers.org/clinvar/13950 ^@ NM_020630.4(RET):c.1597G>T (p.Gly533Cys) http://identifiers.org/clinvar/13951 ^@ NM_020975.4(RET):c.2671T>G (p.Ser891Ala) http://identifiers.org/clinvar/13952 ^@ NM_020630.4(RET):c.73+9277T>C http://identifiers.org/clinvar/13954 ^@ NM_020975.4(RET):c.*1969T>C http://identifiers.org/clinvar/13955 ^@ NM_020630.4(RET):c.2332G>A (p.Val778Ile) http://identifiers.org/clinvar/13956 ^@ NM_020975.4(RET):c.592C>A (p.Pro198Thr) http://identifiers.org/clinvar/13957 ^@ NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) http://identifiers.org/clinvar/13958 ^@ NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) http://identifiers.org/clinvar/13959 ^@ NM_002880.3(RAF1):c.1472C>G (p.Thr491Arg) http://identifiers.org/clinvar/13960 ^@ NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) http://identifiers.org/clinvar/13961 ^@ NM_004333.4(BRAF):c.1799T>A (p.Val600Glu) http://identifiers.org/clinvar/13962 ^@ NM_004333.4(BRAF):c.1385G>T (p.Arg462Ile) http://identifiers.org/clinvar/13963 ^@ NM_004333.4(BRAF):c.1388T>G (p.Ile463Ser) http://identifiers.org/clinvar/13964 ^@ NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) http://identifiers.org/clinvar/13965 ^@ NM_004333.4(BRAF):c.736G>C (p.Ala246Pro) http://identifiers.org/clinvar/13966 ^@ NM_004333.4(BRAF):c.1801A>G (p.Lys601Glu) http://identifiers.org/clinvar/13967 ^@ NM_004333.4(BRAF):c.1397G>T (p.Gly466Val) http://identifiers.org/clinvar/13968 ^@ NM_004333.4(BRAF):c.1790T>G (p.Leu597Arg) http://identifiers.org/clinvar/13969 ^@ NM_004333.4(BRAF):c.1789C>G (p.Leu597Val) http://identifiers.org/clinvar/13970 ^@ NM_004333.4(BRAF):c.1405G>C (p.Gly469Arg) http://identifiers.org/clinvar/13971 ^@ NM_004333.4(BRAF):c.1406G>C (p.Gly469Ala) http://identifiers.org/clinvar/13972 ^@ NM_004333.4(BRAF):c.1781A>G (p.Asp594Gly) http://identifiers.org/clinvar/13973 ^@ NM_004333.4(BRAF):c.770A>G (p.Gln257Arg) http://identifiers.org/clinvar/13974 ^@ NM_004333.4(BRAF):c.1406G>A (p.Gly469Glu) http://identifiers.org/clinvar/13975 ^@ NM_004333.4(BRAF):c.1455G>C (p.Leu485Phe) http://identifiers.org/clinvar/13976 ^@ NM_004333.4(BRAF):c.1495A>G (p.Lys499Glu) http://identifiers.org/clinvar/13977 ^@ NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys) http://identifiers.org/clinvar/13978 ^@ NM_004333.4(BRAF):c.1502A>G (p.Glu501Gly) http://identifiers.org/clinvar/13979 ^@ NM_004333.4(BRAF):c.1741A>G (p.Asn581Asp) http://identifiers.org/clinvar/13980 ^@ NM_004333.4(BRAF):c.1600G>C (p.Gly534Arg) http://identifiers.org/clinvar/13981 ^@ NM_004333.4(BRAF):c.1914T>A (p.Asp638Glu) http://identifiers.org/clinvar/13982 ^@ NM_001626.5(AKT2):c.821G>A (p.Arg274His) http://identifiers.org/clinvar/13983 ^@ NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) http://identifiers.org/clinvar/13984 ^@ NM_016816.3(OAS1):c.1039-1G= http://identifiers.org/clinvar/13985 ^@ NM_016816.3(OAS1):c.484G>A (p.Gly162Ser) http://identifiers.org/clinvar/13986 ^@ LEP, 1-BP DEL, FS147TER http://identifiers.org/clinvar/13987 ^@ NM_000230.2(LEP):c.313C>T (p.Arg105Trp) http://identifiers.org/clinvar/13988 ^@ NM_000270.3(PNP):c.265G>A (p.Glu89Lys) http://identifiers.org/clinvar/13989 ^@ NM_000270.3(PNP):c.520G>C (p.Ala174Pro) http://identifiers.org/clinvar/13990 ^@ NM_000270.3(PNP):c.383A>G (p.Asp128Gly) http://identifiers.org/clinvar/13991 ^@ NM_000270.3(PNP):c.701G>C (p.Arg234Pro) http://identifiers.org/clinvar/13992 ^@ NM_000270.3(PNP):c.151G>A (p.Gly51Ser) http://identifiers.org/clinvar/13993 ^@ NM_000270.3(PNP):c.575A>G (p.Tyr192Cys) http://identifiers.org/clinvar/13994 ^@ PNP, 1-BP DEL http://identifiers.org/clinvar/13995 ^@ NM_000270.3(PNP):c.70C>T (p.Arg24Ter) http://identifiers.org/clinvar/13996 ^@ NM_000270.3(PNP):c.172C>T (p.Arg58Ter) http://identifiers.org/clinvar/13997 ^@ PNP, IVS3DS, G-A, +1 http://identifiers.org/clinvar/13998 ^@ NM_002520.6(NPM1):c.860_863dupTCTG (p.Trp288Cysfs) http://identifiers.org/clinvar/13999 ^@ NM_002520.6(NPM1):c.863_864insCATG (p.Trp288Cysfs) http://identifiers.org/clinvar/14000 ^@ NM_002520.6(NPM1):c.863_864insCGTG (p.Trp288Cysfs) http://identifiers.org/clinvar/14001 ^@ NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288Cysfs) http://identifiers.org/clinvar/14002 ^@ NM_018834.5(MATR3):c.254C>G (p.Ser85Cys) http://identifiers.org/clinvar/14003 ^@ NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile) http://identifiers.org/clinvar/14004 ^@ NM_020529.2(NFKBIA):c.32G>A (p.Trp11Ter) http://identifiers.org/clinvar/14005 ^@ NM_020529.2(NFKBIA):c.40G>T (p.Glu14Ter) http://identifiers.org/clinvar/14006 ^@ NM_001172504.1(SLC6A2):c.1369G>C (p.Ala457Pro) http://identifiers.org/clinvar/14007 ^@ NM_000345.3(SNCA):c.157G>A (p.Ala53Thr) http://identifiers.org/clinvar/14008 ^@ NM_000345.3(SNCA):c.88G>C (p.Ala30Pro) http://identifiers.org/clinvar/14009 ^@ SNCA, TRIPLICATION http://identifiers.org/clinvar/14010 ^@ NM_000345.3(SNCA):c.136G>A (p.Glu46Lys) http://identifiers.org/clinvar/14011 ^@ SNCA, DUPLICATION http://identifiers.org/clinvar/14012 ^@ NC_000012.12:g.117439680C>T http://identifiers.org/clinvar/14013 ^@ NOS2A, -1173C-T http://identifiers.org/clinvar/14014 ^@ NOS2A, -969G-C http://identifiers.org/clinvar/14015 ^@ NM_000603.4(NOS3):c.894T>G (p.Asp298Glu) http://identifiers.org/clinvar/14016 ^@ NM_000603.4(NOS3):c.-51-762C= http://identifiers.org/clinvar/14017 ^@ NM_006179.4(NTF4):c.263C>T (p.Ala88Val) http://identifiers.org/clinvar/14018 ^@ NM_006179.4(NTF4):c.616C>T (p.Arg206Trp) http://identifiers.org/clinvar/14019 ^@ NM_006179.4(NTF4):c.617G>A (p.Arg206Gln) http://identifiers.org/clinvar/14020 ^@ NM_003467.2(CXCR4):c.1000C>T (p.Arg334Ter) http://identifiers.org/clinvar/14021 ^@ NM_003467.2(CXCR4):c.1016_1017delCT (p.Ser339Cysfs) http://identifiers.org/clinvar/14022 ^@ NM_003467.2(CXCR4):c.1027G>T (p.Glu343Ter) http://identifiers.org/clinvar/14023 ^@ NM_003467.2(CXCR4):c.1013C>G (p.Ser338Ter) http://identifiers.org/clinvar/14024 ^@ NM_000905.3(NPY):c.20T>C (p.Leu7Pro) http://identifiers.org/clinvar/14025 ^@ NM_001059.2(TACR3):c.278G>A (p.Gly93Asp) http://identifiers.org/clinvar/14026 ^@ NM_001059.2(TACR3):c.1057C>T (p.Pro353Ser) http://identifiers.org/clinvar/14027 ^@ NM_013251.3(TAC3):c.269T>C (p.Met90Thr) http://identifiers.org/clinvar/14028 ^@ NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) http://identifiers.org/clinvar/14029 ^@ NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) http://identifiers.org/clinvar/14030 ^@ NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) http://identifiers.org/clinvar/14031 ^@ NEFL, 3-BP DEL, 1581GAG http://identifiers.org/clinvar/14032 ^@ NEFL, 13-BP DUP/INS, NT61 http://identifiers.org/clinvar/14033 ^@ NM_006158.4(NEFL):c.281T>C (p.Leu94Pro) http://identifiers.org/clinvar/14034 ^@ NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) http://identifiers.org/clinvar/14035 ^@ NM_021076.3(NEFH):c.2057_2098del42 (p.Ala686_Lys699del) http://identifiers.org/clinvar/14036 ^@ NM_000439.4(PCSK1):c.1447G>A (p.Gly483Arg) http://identifiers.org/clinvar/14037 ^@ PCSK1, IVS5DS, A-C, +4 http://identifiers.org/clinvar/14038 ^@ NM_000439.4(PCSK1):c.748G>T (p.Glu250Ter) http://identifiers.org/clinvar/14039 ^@ NM_000439.4(PCSK1):c.637_639delGCA (p.Ala213del) http://identifiers.org/clinvar/14040 ^@ NM_000439.4(PCSK1):c.661A>G (p.Asn221Asp) http://identifiers.org/clinvar/14041 ^@ NM_000439.4(PCSK1):c.920C>T (p.Ser307Leu) http://identifiers.org/clinvar/14042 ^@ NM_006177.3(NRL):c.148T>A (p.Ser50Thr) http://identifiers.org/clinvar/14043 ^@ NM_006177.3(NRL):c.223dupC (p.Leu75Profs) http://identifiers.org/clinvar/14044 ^@ NM_006177.3(NRL):c.479T>C (p.Leu160Pro) http://identifiers.org/clinvar/14045 ^@ NM_002506.2(NGF):c.661C>T (p.Arg221Trp) http://identifiers.org/clinvar/14046 ^@ NM_001271208.1(NEB):c.22746delG (p.Met7582Ilefs) http://identifiers.org/clinvar/14047 ^@ NM_001271208.1(NEB):c.23500_23503dupGTTT (p.Leu7835Cysfs) http://identifiers.org/clinvar/14048 ^@ NEB, 2-BP DEL, AG, EX172 http://identifiers.org/clinvar/14049 ^@ NEB, 2-BP DEL, GA, EX181 http://identifiers.org/clinvar/14050 ^@ NM_001271208.1(NEB):c.25279G>T (p.Glu8427Ter) http://identifiers.org/clinvar/14051 ^@ NM_001271208.1(NEB):c.22584+1G>C http://identifiers.org/clinvar/14052 ^@ NM_004543.4(NEB):c.7432-2025_7536+372del2502 http://identifiers.org/clinvar/14053 ^@ NC_000005.10:g.(159317671_159317673)_(159322312_159322314)del http://identifiers.org/clinvar/14054 ^@ NM_002187.2(IL12B):c.320dupA (p.Glu108Glyfs) http://identifiers.org/clinvar/14055 ^@ IL12B, 4237G-A http://identifiers.org/clinvar/14056 ^@ NM_007103.3(NDUFV1):c.1268C>T (p.Thr423Met) http://identifiers.org/clinvar/14057 ^@ NM_007103.3(NDUFV1):c.175C>T (p.Arg59Ter) http://identifiers.org/clinvar/14058 ^@ NM_007103.3(NDUFV1):c.1022C>T (p.Ala341Val) http://identifiers.org/clinvar/14059 ^@ NM_007103.3(NDUFV1):c.640G>A (p.Glu214Lys) http://identifiers.org/clinvar/14060 ^@ NDUFV1, IVS8DS, A-C, +4 http://identifiers.org/clinvar/14061 ^@ NM_000258.2(MYL3):c.445A>G (p.Met149Val) http://identifiers.org/clinvar/14062 ^@ NM_000258.2(MYL3):c.461G>A (p.Arg154His) http://identifiers.org/clinvar/14063 ^@ NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) http://identifiers.org/clinvar/14064 ^@ NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/14065 ^@ NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) http://identifiers.org/clinvar/14066 ^@ NM_000432.3(MYL2):c.283C>G (p.Pro95Ala) http://identifiers.org/clinvar/14067 ^@ NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) http://identifiers.org/clinvar/14068 ^@ NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) http://identifiers.org/clinvar/14069 ^@ MYO5A, 2332C-T http://identifiers.org/clinvar/14070 ^@ MYO5A, 47-BP INS, NT4634 http://identifiers.org/clinvar/14071 ^@ MYO5A, F-EXON DEL http://identifiers.org/clinvar/14072 ^@ NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) http://identifiers.org/clinvar/14073 ^@ NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) http://identifiers.org/clinvar/14074 ^@ NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) http://identifiers.org/clinvar/14075 ^@ NM_002473.5(MYH9):c.279C>G (p.Asn93Lys) http://identifiers.org/clinvar/14076 ^@ NM_002473.5(MYH9):c.4270G>C (p.Asp1424His) http://identifiers.org/clinvar/14077 ^@ NM_002473.5(MYH9):c.3464C>T (p.Thr1155Ile) http://identifiers.org/clinvar/14078 ^@ NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) http://identifiers.org/clinvar/14079 ^@ NM_002473.5(MYH9):c.2114G>A (p.Arg705His) http://identifiers.org/clinvar/14080 ^@ NM_002473.5(MYH9):c.5821delG (p.Asp1941Metfs) http://identifiers.org/clinvar/14081 ^@ NM_002473.5(MYH9):c.2105G>A (p.Arg702His) http://identifiers.org/clinvar/14082 ^@ NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) http://identifiers.org/clinvar/14083 ^@ NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) http://identifiers.org/clinvar/14084 ^@ NM_002473.5(MYH9):c.3195_3215del21 (p.Gln1068_Leu1074del) http://identifiers.org/clinvar/14085 ^@ NM_002473.5(MYH9):c.3195_3215dup21 (p.Leu1074_Lys1075insGlnAlaGlnIleAlaGluLeu) http://identifiers.org/clinvar/14086 ^@ MYH9, 18-BP DEL, NT228 http://identifiers.org/clinvar/14087 ^@ NM_000257.3(MYH7):c.1208G>A (p.Arg403Gln) http://identifiers.org/clinvar/14088 ^@ NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) http://identifiers.org/clinvar/14089 ^@ NM_000257.3(MYH7):c.1357C>T (p.Arg453Cys) http://identifiers.org/clinvar/14090 ^@ NM_000257.3(MYH7):c.1750G>C (p.Gly584Arg) http://identifiers.org/clinvar/14091 ^@ NM_000257.3(MYH7):c.1816G>A (p.Val606Met) http://identifiers.org/clinvar/14092 ^@ NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) http://identifiers.org/clinvar/14093 ^@ NM_000257.3(MYH7):c.2845G>A (p.Glu949Lys) http://identifiers.org/clinvar/14094 ^@ NM_000257.3(MYH7):c.1046T>C (p.Met349Thr) http://identifiers.org/clinvar/14095 ^@ NM_000257.3(MYH7):c.2167C>T (p.Arg723Cys) http://identifiers.org/clinvar/14096 ^@ nsv513807 http://identifiers.org/clinvar/14097 ^@ NM_000257.3(MYH7):c.2722C>G (p.Leu908Val) http://identifiers.org/clinvar/14098 ^@ NM_000257.3(MYH7):c.2221G>C (p.Gly741Arg) http://identifiers.org/clinvar/14099 ^@ NM_000257.3(MYH7):c.767G>A (p.Gly256Glu) http://identifiers.org/clinvar/14100 ^@ NM_000257.3(MYH7):c.2333A>G (p.Asp778Gly) http://identifiers.org/clinvar/14101 ^@ NM_000257.3(MYH7):c.1208G>T (p.Arg403Leu) http://identifiers.org/clinvar/14102 ^@ NM_000257.3(MYH7):c.1207C>T (p.Arg403Trp) http://identifiers.org/clinvar/14103 ^@ NM_000257.3(MYH7):c.1538T>G (p.Phe513Cys) http://identifiers.org/clinvar/14104 ^@ NM_000257.3(MYH7):c.2155C>T (p.Arg719Trp) http://identifiers.org/clinvar/14105 ^@ NM_000257.3(MYH7):c.2146G>A (p.Gly716Arg) http://identifiers.org/clinvar/14106 ^@ NM_000257.3(MYH7):c.2803G>A (p.Glu935Lys) http://identifiers.org/clinvar/14107 ^@ NM_000257.3(MYH7):c.2156G>A (p.Arg719Gln) http://identifiers.org/clinvar/14108 ^@ NM_000257.3(MYH7):c.1594T>C (p.Ser532Pro) http://identifiers.org/clinvar/14109 ^@ NM_000257.3(MYH7):c.2292C>G (p.Phe764Leu) http://identifiers.org/clinvar/14110 ^@ MYH7, GLU743ASP http://identifiers.org/clinvar/14111 ^@ NM_000257.3(MYH7):c.2183C>T (p.Ala728Val) http://identifiers.org/clinvar/14112 ^@ NM_000257.3(MYH7):c.667G>A (p.Ala223Thr) http://identifiers.org/clinvar/14113 ^@ NM_000257.3(MYH7):c.1925C>T (p.Ser642Leu) http://identifiers.org/clinvar/14114 ^@ NM_000257.3(MYH7):c.5533C>T (p.Arg1845Trp) http://identifiers.org/clinvar/14115 ^@ NM_000257.3(MYH7):c.4499G>C (p.Arg1500Pro) http://identifiers.org/clinvar/14117 ^@ NM_000257.3(MYH7):c.5702A>T (p.His1901Leu) http://identifiers.org/clinvar/14118 ^@ NM_000257.3(MYH7):c.5134C>T (p.Arg1712Trp) http://identifiers.org/clinvar/14119 ^@ NM_000257.3(MYH7):c.1447G>A (p.Glu483Lys) http://identifiers.org/clinvar/14120 ^@ NM_000257.3(MYH7):c.2609G>A (p.Arg870His) http://identifiers.org/clinvar/14121 ^@ NM_000257.3(MYH7):c.5647G>A (p.Glu1883Lys) http://identifiers.org/clinvar/14122 ^@ NM_000257.3(MYH7):c.1322C>T (p.Thr441Met) http://identifiers.org/clinvar/14123 ^@ NM_000257.3(MYH7):c.5378T>C (p.Leu1793Pro) http://identifiers.org/clinvar/14124 ^@ NM_000257.3(MYH7):c.1491G>T (p.Glu497Asp) http://identifiers.org/clinvar/14125 ^@ NM_000257.3(MYH7):c.2717A>G (p.Asp906Gly) http://identifiers.org/clinvar/14126 ^@ NM_000257.3(MYH7):c.728G>A (p.Arg243His) http://identifiers.org/clinvar/14127 ^@ MYH7, IVS8DS, G-A, +1 http://identifiers.org/clinvar/14128 ^@ NM_000257.3(MYH7):c.5296G>A (p.Ala1766Thr) http://identifiers.org/clinvar/14129 ^@ NM_000257.3(MYH7):c.1357C>A (p.Arg453Ser) http://identifiers.org/clinvar/161316 ^@ NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln) http://identifiers.org/clinvar/14132 ^@ NM_001040113.1(MYH11):c.3743_3814del72 (p.Arg1248_Leu1271del) http://identifiers.org/clinvar/14133 ^@ NM_001040113.1(MYH11):c.3791T>C (p.Leu1264Pro) http://identifiers.org/clinvar/14134 ^@ NM_001040113.1(MYH11):c.3845G>T (p.Arg1282Leu) http://identifiers.org/clinvar/14135 ^@ NM_022844.2(MYH11):c.2135G>A (p.Arg712Gln) http://identifiers.org/clinvar/14136 ^@ NM_002472.2(MYH8):c.2021G>A (p.Arg674Gln) http://identifiers.org/clinvar/14137 ^@ NM_017534.5(MYH2):c.2116G>A (p.Glu706Lys) http://identifiers.org/clinvar/14138 ^@ NM_002470.3(MYH3):c.2015G>A (p.Arg672His) http://identifiers.org/clinvar/14139 ^@ NM_002470.3(MYH3):c.2014C>T (p.Arg672Cys) http://identifiers.org/clinvar/14140 ^@ NM_002470.3(MYH3):c.533C>T (p.Thr178Ile) http://identifiers.org/clinvar/14141 ^@ NM_002470.3(MYH3):c.2474T>A (p.Val825Asp) http://identifiers.org/clinvar/14142 ^@ NM_002470.3(MYH3):c.2590_2592delCTC (p.Leu864del) http://identifiers.org/clinvar/14143 ^@ NM_002470.3(MYH3):c.1123G>A (p.Glu375Lys) http://identifiers.org/clinvar/14144 ^@ NM_002470.3(MYH3):c.1385A>G (p.Asp462Gly) http://identifiers.org/clinvar/14145 ^@ NM_002470.3(MYH3):c.700G>A (p.Ala234Thr) http://identifiers.org/clinvar/14146 ^@ MYH6, MYH6/MYH7 HYBRID http://identifiers.org/clinvar/14147 ^@ NM_002471.3(MYH6):c.2384G>A (p.Arg795Gln) http://identifiers.org/clinvar/14148 ^@ NM_002471.3(MYH6):c.2459T>A (p.Ile820Asn) http://identifiers.org/clinvar/14149 ^@ NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) http://identifiers.org/clinvar/14150 ^@ NM_002471.3(MYH6):c.2489C>T (p.Pro830Leu) http://identifiers.org/clinvar/14151 ^@ NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) http://identifiers.org/clinvar/14152 ^@ NM_002471.3(MYH6):c.4369G>A (p.Glu1457Lys) http://identifiers.org/clinvar/14153 ^@ NM_002469.2(MYF6):c.334G>T (p.Ala112Ser) http://identifiers.org/clinvar/14154 ^@ NM_005373.2(MPL):c.556C>T (p.Gln186Ter) http://identifiers.org/clinvar/14155 ^@ MPL, 1-BP DEL, 1499T http://identifiers.org/clinvar/14156 ^@ NM_005373.2(MPL):c.769C>T (p.Arg257Cys) http://identifiers.org/clinvar/14157 ^@ NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) http://identifiers.org/clinvar/14158 ^@ NM_005373.2(MPL):c.305G>C (p.Arg102Pro) http://identifiers.org/clinvar/14159 ^@ NM_005373.2(MPL):c.1473G>A (p.Trp491Ter) http://identifiers.org/clinvar/14160 ^@ MPL, IVS10AS, G-T, -1 http://identifiers.org/clinvar/14161 ^@ NM_005373.2(MPL):c.823C>A (p.Pro275Thr) http://identifiers.org/clinvar/14162 ^@ NM_005373.2(MPL):c.117G>T (p.Lys39Asn) http://identifiers.org/clinvar/14163 ^@ NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) http://identifiers.org/clinvar/14164 ^@ NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) http://identifiers.org/clinvar/14165 ^@ NM_005373.2(MPL):c.1543_1544delTGinsAA (p.Trp515Lys) http://identifiers.org/clinvar/14166 ^@ NM_000530.7(MPZ):c.286A>G (p.Lys96Glu) http://identifiers.org/clinvar/14167 ^@ NM_000530.7(MPZ):c.270C>A (p.Asp90Glu) http://identifiers.org/clinvar/14168 ^@ MPZ, 3-BP DEL, SER34DEL http://identifiers.org/clinvar/14169 ^@ NM_000530.7(MPZ):c.188C>G (p.Ser63Cys) http://identifiers.org/clinvar/14170 ^@ NM_000530.7(MPZ):c.499G>C (p.Gly167Arg) http://identifiers.org/clinvar/14171 ^@ MPZ, THR216GLU-ARG http://identifiers.org/clinvar/14172 ^@ NM_000530.7(MPZ):c.404T>C (p.Ile135Thr) http://identifiers.org/clinvar/14173 ^@ NM_000530.7(MPZ):c.409G>A (p.Gly137Ser) http://identifiers.org/clinvar/14174 ^@ NM_000530.7(MPZ):c.293G>C (p.Arg98Pro) http://identifiers.org/clinvar/14175 ^@ NM_000530.7(MPZ):c.292C>T (p.Arg98Cys) http://identifiers.org/clinvar/14176 ^@ NM_000530.7(MPZ):c.293G>A (p.Arg98His) http://identifiers.org/clinvar/14177 ^@ NM_000530.7(MPZ):c.188C>T (p.Ser63Phe) http://identifiers.org/clinvar/14178 ^@ NM_000530.7(MPZ):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/14179 ^@ NM_000530.7(MPZ):c.242A>G (p.His81Arg) http://identifiers.org/clinvar/242787 ^@ NM_000530.7(MPZ):c.341T>C (p.Ile114Thr) http://identifiers.org/clinvar/14181 ^@ NM_000530.7(MPZ):c.371C>T (p.Thr124Met) http://identifiers.org/clinvar/242786 ^@ NM_000530.7(MPZ):c.266T>A (p.Ile89Asn) http://identifiers.org/clinvar/14183 ^@ NM_000530.7(MPZ):c.103G>T (p.Asp35Tyr) http://identifiers.org/clinvar/14184 ^@ NM_000530.7(MPZ):c.224A>T (p.Asp75Val) http://identifiers.org/clinvar/14185 ^@ NM_000530.7(MPZ):c.131C>T (p.Ser44Phe) http://identifiers.org/clinvar/14186 ^@ NM_000530.7(MPZ):c.393C>A (p.Asn131Lys) http://identifiers.org/clinvar/14187 ^@ NM_000530.7(MPZ):c.308G>A (p.Gly103Glu) http://identifiers.org/clinvar/14188 ^@ NM_000530.7(MPZ):c.233C>T (p.Ser78Leu) http://identifiers.org/clinvar/14189 ^@ NM_000530.7(MPZ):c.184A>T (p.Ile62Phe) http://identifiers.org/clinvar/14190 ^@ MPZ, 1-BP DEL http://identifiers.org/clinvar/14191 ^@ NM_000530.7(MPZ):c.434A>C (p.Tyr145Ser) http://identifiers.org/clinvar/14192 ^@ MPZ, 3-BP DEL/1-BP INS, NT550 http://identifiers.org/clinvar/14193 ^@ NM_000530.7(MPZ):c.178G>C (p.Asp60His) http://identifiers.org/clinvar/14194 ^@ NM_000530.7(MPZ):c.186C>G (p.Ile62Met) http://identifiers.org/clinvar/14195 ^@ NM_000530.7(MPZ):c.290A>T (p.Glu97Val) http://identifiers.org/clinvar/14196 ^@ NM_000530.7(MPZ):c.371C>A (p.Thr124Lys) http://identifiers.org/clinvar/14197 ^@ MPZ, IVS4DS, T-G, +2 http://identifiers.org/clinvar/14198 ^@ NM_000530.7(MPZ):c.367G>A (p.Gly123Ser) http://identifiers.org/clinvar/14199 ^@ NM_000530.7(MPZ):c.313C>A (p.Pro105Thr) http://identifiers.org/clinvar/14200 ^@ MPZ, VAL102VAL http://identifiers.org/clinvar/14201 ^@ MPZ, ASP195TYR http://identifiers.org/clinvar/14202 ^@ NM_001085377.1(MCC):c.2663C>T (p.Ala888Val) http://identifiers.org/clinvar/14203 ^@ NM_001085377.1(MCC):c.2087G>A (p.Arg696Gln) http://identifiers.org/clinvar/14204 ^@ MUC7, 69-BP DUP, VARIABLE REPEATS http://identifiers.org/clinvar/14205 ^@ CCL2, -2136A-T http://identifiers.org/clinvar/14206 ^@ CCL2, 767C-G http://identifiers.org/clinvar/14207 ^@ NG_012123.1:g.2493A>G http://identifiers.org/clinvar/14208 ^@ RMRP:n.71A>G http://identifiers.org/clinvar/14209 ^@ NR_003051.3(RMRP):n.263G>T http://identifiers.org/clinvar/14210 ^@ NR_003051.3(RMRP):n.-22_-13dupTACTCTGTGA http://identifiers.org/clinvar/14211 ^@ NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC http://identifiers.org/clinvar/14212 ^@ RMRP, 2-BP DUP, 98TG http://identifiers.org/clinvar/14213 ^@ NR_003051.3(RMRP):n.-6_-5insCCTGAG http://identifiers.org/clinvar/14214 ^@ NR_003051.3(RMRP):n.-19_-3dup17 http://identifiers.org/clinvar/14215 ^@ RMRP, 193G-A http://identifiers.org/clinvar/14216 ^@ RMRP, 238C-T http://identifiers.org/clinvar/14217 ^@ RMRP, 195C-T http://identifiers.org/clinvar/14218 ^@ RMRP, 12-BP DUP, NT-2 http://identifiers.org/clinvar/14219 ^@ NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC http://identifiers.org/clinvar/14220 ^@ RMRP, 218A-G http://identifiers.org/clinvar/14221 ^@ NR_003051.3(RMRP):n.-14_3dup17 http://identifiers.org/clinvar/14222 ^@ RMRP, 182G-A http://identifiers.org/clinvar/14223 ^@ NR_003051.3(RMRP):n.195dupT http://identifiers.org/clinvar/14225 ^@ RMRP, 14-BP INS, NT111 http://identifiers.org/clinvar/14226 ^@ RMRP, 14G-A http://identifiers.org/clinvar/14227 ^@ NR_003051.3(RMRP):n.91_92delAGinsGC http://identifiers.org/clinvar/14228 ^@ RMRP, 254C-G http://identifiers.org/clinvar/14229 ^@ RMRP, 10-BP DEL, NT254 http://identifiers.org/clinvar/14230 ^@ NM_005006.6(NDUFS1):c.666_668delCAT (p.Ile223del) http://identifiers.org/clinvar/14231 ^@ NM_005006.6(NDUFS1):c.755A>G (p.Asp252Gly) http://identifiers.org/clinvar/14232 ^@ NM_005006.6(NDUFS1):c.721C>T (p.Arg241Trp) http://identifiers.org/clinvar/14233 ^@ NM_005006.6(NDUFS1):c.691C>G (p.Leu231Val) http://identifiers.org/clinvar/14234 ^@ MTP, 1-BP DEL, 215C http://identifiers.org/clinvar/14235 ^@ NM_000253.3(MTTP):c.1783C>T (p.Arg595Ter) http://identifiers.org/clinvar/14236 ^@ MTP, IVS, G-A, +5 http://identifiers.org/clinvar/14237 ^@ MTP, IVS9AS, G-A, -1 http://identifiers.org/clinvar/14238 ^@ NM_000253.3(MTTP):c.1619G>A (p.Arg540His) http://identifiers.org/clinvar/14239 ^@ MTP, EXON 10 DEL http://identifiers.org/clinvar/14240 ^@ NM_000253.3(MTTP):c.2338A>T (p.Asn780Tyr) http://identifiers.org/clinvar/14241 ^@ NM_000253.3(MTTP):c.1769G>T (p.Ser590Ile) http://identifiers.org/clinvar/14242 ^@ NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) http://identifiers.org/clinvar/14243 ^@ NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter) http://identifiers.org/clinvar/14244 ^@ NM_002443.3(MSMB):c.-89T= http://identifiers.org/clinvar/14245 ^@ NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) http://identifiers.org/clinvar/14246 ^@ NM_016835.4(MAPT):c.1766G>T (p.Gly589Val) http://identifiers.org/clinvar/14247 ^@ NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) http://identifiers.org/clinvar/14248 ^@ NM_016835.4(MAPT):c.1866+14C>T http://identifiers.org/clinvar/14249 ^@ MAPT, IVS10, A-G, +13 http://identifiers.org/clinvar/14250 ^@ MAPT, IVS10, C-T, +16 http://identifiers.org/clinvar/14251 ^@ MAPT, IVS10, G-A, +1 http://identifiers.org/clinvar/14252 ^@ NM_016835.4(MAPT):c.1960G>A (p.Val654Met) http://identifiers.org/clinvar/14253 ^@ NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) http://identifiers.org/clinvar/14254 ^@ NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn) http://identifiers.org/clinvar/14255 ^@ NM_016835.4(MAPT):c.2116G>A (p.Gly706Arg) http://identifiers.org/clinvar/14256 ^@ NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser) http://identifiers.org/clinvar/14257 ^@ NM_016835.4(MAPT):c.1839T>C (p.Asn613=) http://identifiers.org/clinvar/14258 ^@ NM_016835.4(MAPT):c.1976A>T (p.Glu659Val) http://identifiers.org/clinvar/14259 ^@ NM_016835.4(MAPT):c.1721A>C (p.Lys574Thr) http://identifiers.org/clinvar/14260 ^@ NM_016835.4(MAPT):c.2057A>T (p.Lys686Ile) http://identifiers.org/clinvar/14261 ^@ NM_005910.5(MAPT):c.14G>A (p.Arg5His) http://identifiers.org/clinvar/14262 ^@ NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe) http://identifiers.org/clinvar/14263 ^@ NM_016835.4(MAPT):c.14G>T (p.Arg5Leu) http://identifiers.org/clinvar/14264 ^@ MAPT, IVS10, T-C, +11 http://identifiers.org/clinvar/14266 ^@ NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) http://identifiers.org/clinvar/14267 ^@ NM_016835.4(MAPT):c.2006C>T (p.Ser669Leu) http://identifiers.org/clinvar/14268 ^@ NM_016835.4(MAPT):c.1901A>T (p.Lys634Met) http://identifiers.org/clinvar/14269 ^@ NM_016835.4(MAPT):c.1859G>T (p.Gly620Val) http://identifiers.org/clinvar/14270 ^@ MITF, IVS1DS, G-A, +1 http://identifiers.org/clinvar/14271 ^@ MITF, IVS4AS, A-C, -2 http://identifiers.org/clinvar/14272 ^@ MITF, 3-BP DEL, ARG217DEL http://identifiers.org/clinvar/14273 ^@ NM_198159.2(MITF):c.1051T>C (p.Ser351Pro) http://identifiers.org/clinvar/14274 ^@ MITF, 1-BP DEL http://identifiers.org/clinvar/14275 ^@ NM_198159.2(MITF):c.933C>G (p.Asn311Lys) http://identifiers.org/clinvar/14276 ^@ NM_198159.2(MITF):c.943C>T (p.Arg315Ter) http://identifiers.org/clinvar/14277 ^@ NM_198159.2(MITF):c.1195T>C (p.Ser399Pro) http://identifiers.org/clinvar/14278 ^@ NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) http://identifiers.org/clinvar/14279 ^@ NM_000254.2(MTR):c.2640_2642delAAT (p.Ile881del) http://identifiers.org/clinvar/14280 ^@ NM_000254.2(MTR):c.2758C>G (p.His920Asp) http://identifiers.org/clinvar/14281 ^@ MTR, IVS3AS, A-G, -166 http://identifiers.org/clinvar/14282 ^@ NM_000254.2(MTR):c.2114_2115delTC (p.Leu705Glnfs) http://identifiers.org/clinvar/14283 ^@ MTR, IVS6AS, G-A, LYS203 http://identifiers.org/clinvar/14284 ^@ NM_000254.2(MTR):c.3380dupA (p.Ala1128Glyfs) http://identifiers.org/clinvar/14285 ^@ MTR, 2756A-G http://identifiers.org/clinvar/14286 ^@ NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) http://identifiers.org/clinvar/14287 ^@ NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) http://identifiers.org/clinvar/14288 ^@ NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) http://identifiers.org/clinvar/14289 ^@ LAMA2, IVS30, A-T, -2 http://identifiers.org/clinvar/14290 ^@ NM_000426.3(LAMA2):c.3718C>T (p.Gln1240Ter) http://identifiers.org/clinvar/14291 ^@ NM_000426.3(LAMA2):c.9253C>T (p.Arg3085Ter) http://identifiers.org/clinvar/14292 ^@ LAMA2, 1-BP DEL, 8314A http://identifiers.org/clinvar/14293 ^@ LAMA2, IVS25, T-C, +2 http://identifiers.org/clinvar/14294 ^@ NM_000426.3(LAMA2):c.7691T>C (p.Leu2564Pro) http://identifiers.org/clinvar/14295 ^@ LAMA2, 2-BP DEL, 2098AG http://identifiers.org/clinvar/14296 ^@ NM_000426.3(LAMA2):c.7732C>T (p.Arg2578Ter) http://identifiers.org/clinvar/14297 ^@ NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) http://identifiers.org/clinvar/14298 ^@ NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) http://identifiers.org/clinvar/14299 ^@ NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) http://identifiers.org/clinvar/14300 ^@ NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) http://identifiers.org/clinvar/14301 ^@ NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) http://identifiers.org/clinvar/14302 ^@ LAMA, 1-BP DEL, 825C http://identifiers.org/clinvar/14303 ^@ NM_000426.3(LAMA2):c.7750-1713_7899-2153del4987 http://identifiers.org/clinvar/14304 ^@ NM_013227.3(ACAN):c.3758dupC (p.Gly1254Trpfs) http://identifiers.org/clinvar/14305 ^@ NM_013227.3(ACAN):c.7141G>A (p.Asp2381Asn) http://identifiers.org/clinvar/14306 ^@ NM_013227.3(ACAN):c.7249G>A (p.Val2417Met) http://identifiers.org/clinvar/14307 ^@ NM_002386.3(MC1R):c.880G>C (p.Asp294His) http://identifiers.org/clinvar/14308 ^@ NM_002386.3(MC1R):c.274G>A (p.Val92Met) http://identifiers.org/clinvar/14309 ^@ NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) http://identifiers.org/clinvar/14310 ^@ NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) http://identifiers.org/clinvar/14311 ^@ NM_002386.3(MC1R):c.178G>T (p.Val60Leu) http://identifiers.org/clinvar/14312 ^@ NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) http://identifiers.org/clinvar/14313 ^@ MC1R, 3-BP DEL, 439TTC http://identifiers.org/clinvar/14314 ^@ NM_002386.3(MC1R):c.470C>T (p.Thr157Ile) http://identifiers.org/clinvar/14315 ^@ NM_002386.3(MC1R):c.475C>A (p.Pro159Thr) http://identifiers.org/clinvar/14316 ^@ MC4R, 4-BP DEL, NT631 http://identifiers.org/clinvar/14317 ^@ MC4R, 4-BP INS, NT732 http://identifiers.org/clinvar/14318 ^@ NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) http://identifiers.org/clinvar/14319 ^@ NM_005912.2(MC4R):c.110A>T (p.Asp37Val) http://identifiers.org/clinvar/14320 ^@ NM_005912.2(MC4R):c.148G>A (p.Val50Met) http://identifiers.org/clinvar/14321 ^@ NM_005912.2(MC4R):c.172A>T (p.Ser58Cys) http://identifiers.org/clinvar/14322 ^@ NM_005912.2(MC4R):c.305T>G (p.Ile102Ser) http://identifiers.org/clinvar/14323 ^@ NM_005912.2(MC4R):c.508A>G (p.Ile170Val) http://identifiers.org/clinvar/14324 ^@ NM_005912.2(MC4R):c.821A>G (p.Asn274Ser) http://identifiers.org/clinvar/14325 ^@ MC4R, 1-BP INS, 112A http://identifiers.org/clinvar/14326 ^@ MC4R, 4-BP DEL, 211CTCT http://identifiers.org/clinvar/14327 ^@ MC4R, 2-BP INS, 279GT http://identifiers.org/clinvar/14328 ^@ MC4R, ILE125LYS http://identifiers.org/clinvar/14329 ^@ NM_005912.2(MC4R):c.812G>A (p.Cys271Tyr) http://identifiers.org/clinvar/14330 ^@ NM_005912.2(MC4R):c.523G>A (p.Ala175Thr) http://identifiers.org/clinvar/14331 ^@ NM_005912.2(MC4R):c.947T>G (p.Ile316Ser) http://identifiers.org/clinvar/14332 ^@ NM_005912.2(MC4R):c.861T>A (p.Tyr287Ter) http://identifiers.org/clinvar/14333 ^@ NM_005912.2(MC4R):c.289A>G (p.Asn97Asp) http://identifiers.org/clinvar/14334 ^@ NM_005912.2(MC4R):c.185A>G (p.Asn62Ser) http://identifiers.org/clinvar/14335 ^@ MC4R, 15-BP DEL http://identifiers.org/clinvar/14336 ^@ NM_005912.2(MC4R):c.380C>T (p.Ser127Leu) http://identifiers.org/clinvar/14337 ^@ MC4R, 2-BP DEL, 750GA http://identifiers.org/clinvar/14338 ^@ NM_005912.2(MC4R):c.656C>T (p.Ala219Val) http://identifiers.org/clinvar/14339 ^@ NM_019888.3(MC3R):c.437T>A (p.Ile146Asn) http://identifiers.org/clinvar/14340 ^@ NM_019888.3(MC3R):c.893T>G (p.Ile298Ser) http://identifiers.org/clinvar/14341 ^@ NM_000900.3(MGP):c.43delG (p.Val15Terfs) http://identifiers.org/clinvar/14342 ^@ NM_000900.3(MGP):c.62-2A>G http://identifiers.org/clinvar/14343 ^@ NM_000900.3(MGP):c.87T>A (p.Tyr29Ter) http://identifiers.org/clinvar/14344 ^@ NM_000900.3(MGP):c.94+1G>A http://identifiers.org/clinvar/14345 ^@ NM_002435.2(MPI):c.656G>A (p.Arg219Gln) http://identifiers.org/clinvar/14346 ^@ NM_002435.2(MPI):c.305C>T (p.Ser102Leu) http://identifiers.org/clinvar/14347 ^@ NM_002435.2(MPI):c.413T>C (p.Met138Thr) http://identifiers.org/clinvar/14348 ^@ MPI, 1-BP INS, 166C http://identifiers.org/clinvar/14349 ^@ NM_002435.2(MPI):c.884G>A (p.Arg295His) http://identifiers.org/clinvar/14350 ^@ NM_000242.2(MBL2):c.161G>A (p.Gly54Asp) http://identifiers.org/clinvar/14351 ^@ NM_000242.2(MBL2):c.170G>A (p.Gly57Glu) http://identifiers.org/clinvar/14352 ^@ NM_000242.2(MBL2):c.154C>T (p.Arg52Cys) http://identifiers.org/clinvar/14353 ^@ ME2, HAPLOTYPE (rs674351, rs584087, rs585344, rs608781, rs642698, rs674210, rs645088, rs649224, rs654136) http://identifiers.org/clinvar/14354 ^@ NM_012064.3(MIP):c.413C>G (p.Thr138Arg) http://identifiers.org/clinvar/14355 ^@ NM_012064.3(MIP):c.401A>G (p.Glu134Gly) http://identifiers.org/clinvar/14356 ^@ NM_030657.3(LIM2):c.439T>G (p.Phe147Val) http://identifiers.org/clinvar/14357 ^@ NM_138715.2(MSR1):c.877C>T (p.Arg293Ter) http://identifiers.org/clinvar/14358 ^@ NM_138715.2(MSR1):c.520G>T (p.Asp174Tyr) http://identifiers.org/clinvar/14359 ^@ MIF, -173G-C http://identifiers.org/clinvar/14360 ^@ NM_005576.3(LOXL1):c.422G>T (p.Arg141Leu) http://identifiers.org/clinvar/14361 ^@ NM_005576.3(LOXL1):c.458G>A (p.Gly153Asp) http://identifiers.org/clinvar/14362 ^@ LOXL1, IVS1, C-T http://identifiers.org/clinvar/14363 ^@ NM_002317.6(LOX):c.473G>A (p.Arg158Gln) http://identifiers.org/clinvar/14364 ^@ NM_000302.3(PLOD1):c.955C>T (p.Arg319Ter) http://identifiers.org/clinvar/14365 ^@ NG_008159.1:g.(30134_30285)_(38781_39030)dup http://identifiers.org/clinvar/14366 ^@ NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) http://identifiers.org/clinvar/14367 ^@ NM_000302.3(PLOD1):c.1594_1596delGAG (p.Glu532del) http://identifiers.org/clinvar/14368 ^@ NM_000302.3(PLOD1):c.1651-2delA http://identifiers.org/clinvar/14369 ^@ NM_000302.3(PLOD1):c.1756_1902del http://identifiers.org/clinvar/14370 ^@ NM_000302.3(PLOD1):c.1533C>G (p.Tyr511Ter) http://identifiers.org/clinvar/14371 ^@ NM_000302.3(PLOD1):c.579+1G>A http://identifiers.org/clinvar/14372 ^@ NM_000302.3(PLOD1):c.1836G>C (p.Trp612Cys) http://identifiers.org/clinvar/14373 ^@ NM_000302.3(PLOD1):c.2008C>T (p.Arg670Ter) http://identifiers.org/clinvar/14374 ^@ NM_000239.2(LYZ):c.221T>C (p.Ile74Thr) http://identifiers.org/clinvar/14375 ^@ NM_000239.2(LYZ):c.199G>C (p.Asp67His) http://identifiers.org/clinvar/14376 ^@ NM_000239.2(LYZ):c.244T>C (p.Trp82Arg) http://identifiers.org/clinvar/14377 ^@ NM_000239.2(LYZ):c.223T>A (p.Phe75Ile) http://identifiers.org/clinvar/14378 ^@ NM_000239.2(LYZ):c.244T>A (p.Trp82Arg) http://identifiers.org/clinvar/14379 ^@ NM_001159740.2(LTA):c.179C>A (p.Thr60Asn) http://identifiers.org/clinvar/14380 ^@ NM_001159740.2(LTA):c.-9-198A>G http://identifiers.org/clinvar/14381 ^@ LTA, 80A-C http://identifiers.org/clinvar/242785 ^@ NM_016269.4(LEF1):c.133G>A (p.Glu45Lys) http://identifiers.org/clinvar/14384 ^@ NM_000233.3(LHCGR):c.1733A>G (p.Asp578Gly) http://identifiers.org/clinvar/14385 ^@ NM_000233.3(LHCGR):c.1713G>A (p.Met571Ile) http://identifiers.org/clinvar/14387 ^@ NM_000233.3(LHCGR):c.1627T>C (p.Cys543Arg) http://identifiers.org/clinvar/14388 ^@ NM_000233.3(LHCGR):c.1777G>C (p.Ala593Pro) http://identifiers.org/clinvar/14389 ^@ NM_000233.3(LHCGR):c.1730C>T (p.Thr577Ile) http://identifiers.org/clinvar/14390 ^@ NM_000233.3(LHCGR):c.1715C>T (p.Ala572Val) http://identifiers.org/clinvar/14391 ^@ NM_000233.3(LHCGR):c.1635C>A (p.Cys545Ter) http://identifiers.org/clinvar/14392 ^@ NM_000233.3(LHCGR):c.1660C>T (p.Arg554Ter) http://identifiers.org/clinvar/14393 ^@ NM_000233.3(LHCGR):c.1847C>A (p.Ser616Tyr) http://identifiers.org/clinvar/14394 ^@ NM_000233.3(LHCGR):c.1193T>C (p.Met398Thr) http://identifiers.org/clinvar/14396 ^@ NM_000233.3(LHCGR):c.391T>C (p.Cys131Arg) http://identifiers.org/clinvar/14397 ^@ NM_000233.3(LHCGR):c.1118C>T (p.Ala373Val) http://identifiers.org/clinvar/14398 ^@ NM_000233.3(LHCGR):c.1060G>A (p.Glu354Lys) http://identifiers.org/clinvar/14399 ^@ LHCGR, 6-BP DEL, NT1822 http://identifiers.org/clinvar/14400 ^@ NM_000233.3(LHCGR):c.1874T>A (p.Ile625Lys) http://identifiers.org/clinvar/14401 ^@ LHCGR, LEU-GLN INS, CODON 19-20 http://identifiers.org/clinvar/14402 ^@ NM_000233.3(LHCGR):c.1624A>C (p.Ile542Leu) http://identifiers.org/clinvar/14403 ^@ NM_000233.3(LHCGR):c.1732G>C (p.Asp578His) http://identifiers.org/clinvar/14404 ^@ LHCGR, EX10DEL http://identifiers.org/clinvar/14405 ^@ LHCGR, 33-BP INS, NT54 http://identifiers.org/clinvar/14406 ^@ NM_000233.3(LHCGR):c.1103T>C (p.Leu368Pro) http://identifiers.org/clinvar/14407 ^@ NM_000233.3(LHCGR):c.1703C>T (p.Ala568Val) http://identifiers.org/clinvar/14408 ^@ NM_000233.3(LHCGR):c.1370T>G (p.Leu457Arg) http://identifiers.org/clinvar/14409 ^@ NM_000233.3(LHCGR):c.1027T>A (p.Cys343Ser) http://identifiers.org/clinvar/14410 ^@ NM_000233.3(LHCGR):c.1505T>C (p.Leu502Pro) http://identifiers.org/clinvar/14411 ^@ NM_000233.3(LHCGR):c.430G>T (p.Val144Phe) http://identifiers.org/clinvar/14412 ^@ NM_000233.3(LHCGR):c.1691A>G (p.Asp564Gly) http://identifiers.org/clinvar/14413 ^@ NM_000894.2(LHB):c.221A>G (p.Gln74Arg) http://identifiers.org/clinvar/242784 ^@ NM_000894.2(LHB):c.82T>C (p.Trp28Arg) http://identifiers.org/clinvar/14415 ^@ NM_000894.2(LHB):c.364G>A (p.Gly122Ser) http://identifiers.org/clinvar/14416 ^@ NM_000894.2(LHB):c.167G>A (p.Gly56Asp) http://identifiers.org/clinvar/14417 ^@ NM_001083111.1(GNRH1):c.18dupA (p.Leu7Thrfs) http://identifiers.org/clinvar/14418 ^@ LOR, 1-BP INS, 730G http://identifiers.org/clinvar/14419 ^@ LOR, 1-BP INS, 709C http://identifiers.org/clinvar/14420 ^@ NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) http://identifiers.org/clinvar/14421 ^@ NM_000238.3(KCNH2):c.1408A>G (p.Asn470Asp) http://identifiers.org/clinvar/14422 ^@ KCNH2, IVS3, G-C, +1 http://identifiers.org/clinvar/14423 ^@ NM_000238.3(KCNH2):c.1778T>G (p.Ile593Arg) http://identifiers.org/clinvar/14424 ^@ NM_000238.3(KCNH2):c.2464G>A (p.Val822Met) http://identifiers.org/clinvar/14425 ^@ KCNH2, 27-BP DEL http://identifiers.org/clinvar/14426 ^@ KCNH2, 1-BP DEL http://identifiers.org/clinvar/14427 ^@ NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) http://identifiers.org/clinvar/14428 ^@ NM_000238.3(KCNH2):c.1744C>T (p.Arg582Cys) http://identifiers.org/clinvar/14429 ^@ NM_000238.3(KCNH2):c.1714G>C (p.Gly572Arg) http://identifiers.org/clinvar/14430 ^@ NM_000238.3(KCNH2):c.1468G>A (p.Ala490Thr) http://identifiers.org/clinvar/14431 ^@ NM_000238.3(KCNH2):c.3003G>A (p.Trp1001Ter) http://identifiers.org/clinvar/14432 ^@ NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) http://identifiers.org/clinvar/14433 ^@ NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) http://identifiers.org/clinvar/14434 ^@ NM_000238.3(KCNH2):c.193A>C (p.Thr65Pro) http://identifiers.org/clinvar/14435 ^@ NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) http://identifiers.org/clinvar/14436 ^@ NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys) http://identifiers.org/clinvar/14437 ^@ NM_000238.3(KCNH2):c.1764C>A (p.Asn588Lys) http://identifiers.org/clinvar/14438 ^@ KCNH2, IVS10, G-A, +1 http://identifiers.org/clinvar/14439 ^@ KCNH2, 1-BP INS, 2775G http://identifiers.org/clinvar/14440 ^@ NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile) http://identifiers.org/clinvar/14441 ^@ NM_000238.3(KCNH2):c.2842C>T (p.Arg948Cys) http://identifiers.org/clinvar/14442 ^@ NM_000238.3(KCNH2):c.298C>G (p.Arg100Gly) http://identifiers.org/clinvar/14443 ^@ NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) http://identifiers.org/clinvar/14444 ^@ NM_000238.3(KCNH2):c.1672G>C (p.Ala558Pro) http://identifiers.org/clinvar/14445 ^@ LCRB, 30-KB DEL http://identifiers.org/clinvar/14446 ^@ ALOX5, VARIANT PROMOTER SP1 BINDING http://identifiers.org/clinvar/14447 ^@ LPA, -773A, +93C, +121A http://identifiers.org/clinvar/14448 ^@ LPA, -773G, +93T, +121G http://identifiers.org/clinvar/14449 ^@ LPA, IVS K4 TYPE 8 DS, G-A, +1 http://identifiers.org/clinvar/14450 ^@ NM_005577.2(LPA):c.109C>T (p.Arg37Ter) http://identifiers.org/clinvar/14451 ^@ NM_000236.2(LIPC):c.1214C>T (p.Thr405Met) http://identifiers.org/clinvar/14452 ^@ NM_000236.2(LIPC):c.866C>T (p.Ser289Phe) http://identifiers.org/clinvar/14453 ^@ LIPC, -514C-T http://identifiers.org/clinvar/14454 ^@ LIPC, -250G-A http://identifiers.org/clinvar/14455 ^@ LIPC, INTRON 1 HAPLOTYPE, TA http://identifiers.org/clinvar/14456 ^@ PTPRC, 77C-G http://identifiers.org/clinvar/14457 ^@ PTPRC, IVS13DS, G-A, +1 http://identifiers.org/clinvar/14458 ^@ PTPRC, 6-BP DEL, NT1168 http://identifiers.org/clinvar/14459 ^@ LIFR, 1-BP INS, 653T http://identifiers.org/clinvar/14460 ^@ NM_002310.5(LIFR):c.1789C>T (p.Arg597Ter) http://identifiers.org/clinvar/14461 ^@ LIFR, 1-BP INS, 2011T http://identifiers.org/clinvar/14462 ^@ LIFR, 4-BP DEL, 167TAAC http://identifiers.org/clinvar/14463 ^@ NM_001754.4(RUNX1):c.352-1G>T http://identifiers.org/clinvar/14464 ^@ NM_001754.4(RUNX1):c.602G>A (p.Arg201Gln) http://identifiers.org/clinvar/14465 ^@ NM_001754.4(RUNX1):c.328A>G (p.Lys110Glu) http://identifiers.org/clinvar/14466 ^@ NM_001754.4(RUNX1):c.508+3delA http://identifiers.org/clinvar/14467 ^@ NM_001754.4(RUNX1):c.861C>A (p.Tyr287Ter) http://identifiers.org/clinvar/14468 ^@ NM_001754.4(RUNX1):c.400G>C (p.Ala134Pro) http://identifiers.org/clinvar/14469 ^@ NM_001754.4(RUNX1):c.253C>A (p.His85Asn) http://identifiers.org/clinvar/14470 ^@ NM_001754.4(RUNX1):c.442_449delACCGCAGC (p.Thr148Hisfs) http://identifiers.org/clinvar/14471 ^@ NM_001754.4(RUNX1):c.467C>A (p.Ala156Glu) http://identifiers.org/clinvar/14472 ^@ LGALS2, 3279C-T http://identifiers.org/clinvar/14474 ^@ NM_032737.3(LMNB2):c.704G>A (p.Arg235Gln) http://identifiers.org/clinvar/14475 ^@ NM_032737.3(LMNB2):c.1279G>A (p.Ala427Thr) http://identifiers.org/clinvar/14476 ^@ LMNB1, DUP, CHR5:126,102,443-126,199,753 SRO, GRCh37 http://identifiers.org/clinvar/14477 ^@ NM_170707.3(LMNA):c.16C>T (p.Gln6Ter) http://identifiers.org/clinvar/14478 ^@ NM_170707.3(LMNA):c.1357C>T (p.Arg453Trp) http://identifiers.org/clinvar/14479 ^@ NM_170707.3(LMNA):c.178C>G (p.Arg60Gly) http://identifiers.org/clinvar/14480 ^@ NM_170707.3(LMNA):c.254T>G (p.Leu85Arg) http://identifiers.org/clinvar/14481 ^@ NM_170707.3(LMNA):c.1580G>C (p.Arg527Pro) http://identifiers.org/clinvar/14482 ^@ NM_170707.3(LMNA):c.1589T>C (p.Leu530Pro) http://identifiers.org/clinvar/14483 ^@ NM_170707.3(LMNA):c.585C>G (p.Asn195Lys) http://identifiers.org/clinvar/14484 ^@ NM_170707.3(LMNA):c.608A>G (p.Glu203Gly) http://identifiers.org/clinvar/14485 ^@ NM_005572.3(LMNA):c.1711C>A (p.Arg571Ser) http://identifiers.org/clinvar/14486 ^@ NM_170707.3(LMNA):c.1445G>A (p.Arg482Gln) http://identifiers.org/clinvar/14487 ^@ NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys) http://identifiers.org/clinvar/14488 ^@ NM_170707.3(LMNA):c.398G>T (p.Arg133Leu) http://identifiers.org/clinvar/14489 ^@ NM_005572.3(LMNA):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/14490 ^@ NM_170707.3(LMNA):c.1445G>T (p.Arg482Leu) http://identifiers.org/clinvar/14491 ^@ NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) http://identifiers.org/clinvar/14492 ^@ NM_005572.3(LMNA):c.664C>T (p.His222Tyr) http://identifiers.org/clinvar/14493 ^@ NM_170707.3(LMNA):c.1394G>A (p.Gly465Asp) http://identifiers.org/clinvar/14494 ^@ NM_170707.3(LMNA):c.1745G>A (p.Arg582His) http://identifiers.org/clinvar/14495 ^@ NM_170707.3(LMNA):c.1130G>A (p.Arg377His) http://identifiers.org/clinvar/14498 ^@ NM_170707.3(LMNA):c.892C>T (p.Arg298Cys) http://identifiers.org/clinvar/14499 ^@ NM_170707.3(LMNA):c.1580G>A (p.Arg527His) http://identifiers.org/clinvar/14500 ^@ NM_170707.3(LMNA):c.1824C>T (p.Gly608=) http://identifiers.org/clinvar/14501 ^@ NM_170707.3(LMNA):c.1822G>A (p.Gly608Ser) http://identifiers.org/clinvar/14502 ^@ NM_170707.3(LMNA):c.433G>A (p.Glu145Lys) http://identifiers.org/clinvar/14503 ^@ NM_170707.3(LMNA):c.1411C>T (p.Arg471Cys) http://identifiers.org/clinvar/14504 ^@ NM_170707.3(LMNA):c.481G>A (p.Glu161Lys) http://identifiers.org/clinvar/14506 ^@ NM_170707.3(LMNA):c.169G>C (p.Ala57Pro) http://identifiers.org/clinvar/14507 ^@ NM_170707.3(LMNA):c.419T>G (p.Leu140Arg) http://identifiers.org/clinvar/14508 ^@ NM_170707.3(LMNA):c.398G>C (p.Arg133Pro) http://identifiers.org/clinvar/14509 ^@ NM_170707.3(LMNA):c.1626G>C (p.Lys542Asn) http://identifiers.org/clinvar/14510 ^@ NM_170707.3(LMNA):c.428C>T (p.Ser143Phe) http://identifiers.org/clinvar/14511 ^@ NM_170707.3(LMNA):c.777T>A (p.Tyr259Ter) http://identifiers.org/clinvar/14513 ^@ NM_170707.3(LMNA):c.1586C>T (p.Ala529Val) http://identifiers.org/clinvar/14514 ^@ NM_170707.3(LMNA):c.1477C>T (p.Gln493Ter) http://identifiers.org/clinvar/14516 ^@ NM_170707.3(LMNA):c.1821G>A (p.Val607=) http://identifiers.org/clinvar/14517 ^@ NM_170707.3(LMNA):c.1718C>T (p.Ser573Leu) http://identifiers.org/clinvar/14518 ^@ NM_170707.3(LMNA):c.688G>A (p.Asp230Asn) http://identifiers.org/clinvar/14519 ^@ NM_170707.3(LMNA):c.1195C>T (p.Arg399Cys) http://identifiers.org/clinvar/14520 ^@ NM_170707.3(LMNA):c.1318G>A (p.Val440Met) http://identifiers.org/clinvar/14522 ^@ NM_170707.3(LMNA):c.1585G>A (p.Ala529Thr) http://identifiers.org/clinvar/14523 ^@ NM_170707.3(LMNA):c.1139T>C (p.Leu380Ser) http://identifiers.org/clinvar/14524 ^@ NM_170707.3(LMNA):c.745C>T (p.Arg249Trp) http://identifiers.org/clinvar/14525 ^@ NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys) http://identifiers.org/clinvar/14526 ^@ LMNA, 3-BP DEL, 94AAG http://identifiers.org/clinvar/14527 ^@ NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) http://identifiers.org/clinvar/14529 ^@ LAMB2, 1-BP DEL, 3015G http://identifiers.org/clinvar/14530 ^@ NM_002292.3(LAMB2):c.736C>T (p.Arg246Trp) http://identifiers.org/clinvar/14531 ^@ LAMB2, 1-BP INS, 5259A http://identifiers.org/clinvar/14532 ^@ NM_002292.3(LAMB2):c.2067C>G (p.Tyr689Ter) http://identifiers.org/clinvar/14533 ^@ NM_002292.3(LAMB2):c.1122T>A (p.Cys374Ter) http://identifiers.org/clinvar/14534 ^@ NM_002292.3(LAMB2):c.737G>A (p.Arg246Gln) http://identifiers.org/clinvar/242783 ^@ NM_002292.3(LAMB2):c.4140C>A (p.Asn1380Lys) http://identifiers.org/clinvar/14536 ^@ NM_002292.3(LAMB2):c.961T>C (p.Cys321Arg) http://identifiers.org/clinvar/14537 ^@ LAMB2, 1-BP DEL, 1478G http://identifiers.org/clinvar/14538 ^@ NM_002292.3(LAMB2):c.4804delC (p.Gln1602Argfs) http://identifiers.org/clinvar/14539 ^@ NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) http://identifiers.org/clinvar/14541 ^@ NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) http://identifiers.org/clinvar/14542 ^@ NM_000228.2(LAMB3):c.904delT (p.Trp302Glyfs) http://identifiers.org/clinvar/14543 ^@ NM_000228.2(LAMB3):c.628G>A (p.Glu210Lys) http://identifiers.org/clinvar/14544 ^@ NM_000228.2(LAMB3):c.496C>T (p.Gln166Ter) http://identifiers.org/clinvar/14545 ^@ NM_000228.2(LAMB3):c.1830G>A (p.Trp610Ter) http://identifiers.org/clinvar/14546 ^@ NM_000228.2(LAMB3):c.2806C>T (p.Gln936Ter) http://identifiers.org/clinvar/14547 ^@ NM_000228.2(LAMB3):c.1439_1443delCGTGT (p.Pro480Argfs) http://identifiers.org/clinvar/14548 ^@ NM_000228.2(LAMB3):c.1587_1588delAG (p.Gly530Metfs) http://identifiers.org/clinvar/14549 ^@ NM_000228.2(LAMB3):c.628+42G>A http://identifiers.org/clinvar/14550 ^@ NM_000228.2(LAMB3):c.596G>C (p.Gly199Ala) http://identifiers.org/clinvar/14551 ^@ NM_000228.2(LAMB3):c.565-3T>C http://identifiers.org/clinvar/14552 ^@ NM_000228.2(LAMB3):c.619A>C (p.Lys207Gln) http://identifiers.org/clinvar/14553 ^@ NM_000228.2(LAMB3):c.629-1G>A http://identifiers.org/clinvar/14554 ^@ LAMC2, IVS8AS, G-A, -1 http://identifiers.org/clinvar/14555 ^@ NM_005562.2(LAMC2):c.283C>T (p.Arg95Ter) http://identifiers.org/clinvar/14556 ^@ NM_005562.2(LAMC2):c.1065C>G (p.Tyr355Ter) http://identifiers.org/clinvar/14557 ^@ NM_005562.2(LAMC2):c.1659C>A (p.Cys553Ter) http://identifiers.org/clinvar/14558 ^@ LAMC2, 7-BP DEL, NT2137 http://identifiers.org/clinvar/14559 ^@ NM_005562.2(LAMC2):c.733C>T (p.Arg245Ter) http://identifiers.org/clinvar/14560 ^@ LAMC2, IVS3, G-A, -1 http://identifiers.org/clinvar/14561 ^@ LAMC2, 1-BP INS, 3511A http://identifiers.org/clinvar/14562 ^@ NM_002300.7(LDHB):c.515G>A (p.Arg172His) http://identifiers.org/clinvar/14563 ^@ NM_002300.7(LDHB):c.385A>C (p.Ser129Arg) http://identifiers.org/clinvar/14564 ^@ NM_002300.7(LDHB):c.19A>G (p.Lys7Glu) http://identifiers.org/clinvar/14565 ^@ NM_002300.7(LDHB):c.973T>C (p.Trp325Arg) http://identifiers.org/clinvar/14566 ^@ LDHA, 20-BP DEL, EX6 http://identifiers.org/clinvar/14567 ^@ NM_005566.3(LDHA):c.985G>T (p.Glu329Ter) http://identifiers.org/clinvar/14568 ^@ KRT10, ARG10HIS http://identifiers.org/clinvar/14569 ^@ NM_000421.3(KRT10):c.482T>C (p.Leu161Ser) http://identifiers.org/clinvar/14570 ^@ KRT10, ARG10LEU http://identifiers.org/clinvar/14571 ^@ NM_000421.3(KRT10):c.460A>C (p.Asn154His) http://identifiers.org/clinvar/14572 ^@ NM_000421.3(KRT10):c.478T>G (p.Tyr160Asp) http://identifiers.org/clinvar/14573 ^@ NM_000421.3(KRT10):c.467G>A (p.Arg156His) http://identifiers.org/clinvar/14574 ^@ KRT10, ARG10CYS http://identifiers.org/clinvar/14575 ^@ NM_000421.3(KRT10):c.1325T>A (p.Leu442Gln) http://identifiers.org/clinvar/14576 ^@ NM_000421.3(KRT10):c.466C>T (p.Arg156Cys) http://identifiers.org/clinvar/14577 ^@ NM_000421.3(KRT10):c.449T>G (p.Met150Arg) http://identifiers.org/clinvar/14578 ^@ NM_000421.3(KRT10):c.1315A>G (p.Lys439Glu) http://identifiers.org/clinvar/14579 ^@ NM_000421.3(KRT10):c.449T>C (p.Met150Thr) http://identifiers.org/clinvar/14580 ^@ NM_000421.3(KRT10):c.1264_1265delCGinsGA (p.Arg422Glu) http://identifiers.org/clinvar/14581 ^@ NM_000421.3(KRT10):c.1374-2A>G http://identifiers.org/clinvar/14582 ^@ NM_000421.3(KRT10):c.1373+1G>A http://identifiers.org/clinvar/14583 ^@ NM_000421.3(KRT10):c.1449dupC (p.Gly484Argfs) http://identifiers.org/clinvar/14584 ^@ NM_000421.3(KRT10):c.1560_1561delCG (p.Gly521Profs) http://identifiers.org/clinvar/14585 ^@ NM_000224.2(KRT18):c.383A>T (p.His128Leu) http://identifiers.org/clinvar/14586 ^@ NM_000422.2(KRT17):c.274A>G (p.Asn92Asp) http://identifiers.org/clinvar/14587 ^@ NM_000422.2(KRT17):c.275A>G (p.Asn92Ser) http://identifiers.org/clinvar/14588 ^@ NM_000422.2(KRT17):c.292T>G (p.Tyr98Asp) http://identifiers.org/clinvar/14589 ^@ NM_000422.2(KRT17):c.274A>C (p.Asn92His) http://identifiers.org/clinvar/14590 ^@ NM_000422.2(KRT17):c.281G>A (p.Arg94His) http://identifiers.org/clinvar/14591 ^@ NM_000422.2(KRT17):c.280C>T (p.Arg94Cys) http://identifiers.org/clinvar/14592 ^@ NM_000422.2(KRT17):c.263T>C (p.Met88Thr) http://identifiers.org/clinvar/14593 ^@ NM_000422.2(KRT17):c.281_295delGCCTGGCCTCCTACC (p.Arg94_Tyr98del) http://identifiers.org/clinvar/14594 ^@ NM_000422.2(KRT17):c.281G>C (p.Arg94Pro) http://identifiers.org/clinvar/14595 ^@ NM_000422.2(KRT17):c.284T>A (p.Leu95Gln) http://identifiers.org/clinvar/14596 ^@ NM_000422.2(KRT17):c.284T>C (p.Leu95Pro) http://identifiers.org/clinvar/14598 ^@ NM_000422.2(KRT17):c.296T>C (p.Leu99Pro) http://identifiers.org/clinvar/14599 ^@ NM_000422.2(KRT17):c.304G>A (p.Val102Met) http://identifiers.org/clinvar/14600 ^@ NM_005557.3(KRT16):c.395T>C (p.Leu132Pro) http://identifiers.org/clinvar/14601 ^@ NM_005557.3(KRT16):c.379C>T (p.Arg127Cys) http://identifiers.org/clinvar/14602 ^@ NM_005557.3(KRT16):c.374A>G (p.Asn125Ser) http://identifiers.org/clinvar/14603 ^@ NM_005557.3(KRT16):c.389_391delCCT (p.Ser130del) http://identifiers.org/clinvar/14604 ^@ NM_005557.3(KRT16):c.380G>C (p.Arg127Pro) http://identifiers.org/clinvar/14605 ^@ NM_005557.3(KRT16):c.365A>C (p.Gln122Pro) http://identifiers.org/clinvar/14606 ^@ NM_005557.3(KRT16):c.371T>G (p.Leu124Arg) http://identifiers.org/clinvar/14607 ^@ NM_005557.3(KRT16):c.1062A>T (p.Lys354Asn) http://identifiers.org/clinvar/14608 ^@ NM_005557.3(KRT16):c.362T>C (p.Met121Thr) http://identifiers.org/clinvar/14609 ^@ NM_005557.3(KRT16):c.383T>A (p.Leu128Gln) http://identifiers.org/clinvar/14610 ^@ KRT16, 23-BP DEL, NT1244 AND 1-BP DEL, 1270G http://identifiers.org/clinvar/14611 ^@ NM_000526.4(KRT14):c.1151T>C (p.Leu384Pro) http://identifiers.org/clinvar/14612 ^@ NM_000526.4(KRT14):c.373C>T (p.Arg125Cys) http://identifiers.org/clinvar/14613 ^@ NM_000526.4(KRT14):c.374G>A (p.Arg125His) http://identifiers.org/clinvar/14614 ^@ NM_000526.4(KRT14):c.431A>C (p.Glu144Ala) http://identifiers.org/clinvar/14615 ^@ KRT14, 3-BP DEL, GLU375DEL http://identifiers.org/clinvar/14616 ^@ NM_000526.4(KRT14):c.612T>A (p.Tyr204Ter) http://identifiers.org/clinvar/14617 ^@ NM_000526.4(KRT14):c.815T>G (p.Met272Arg) http://identifiers.org/clinvar/14618 ^@ KRT14, IVS1AS, A-C, -2 http://identifiers.org/clinvar/14619 ^@ NM_000526.4(KRT14):c.356T>C (p.Met119Thr) http://identifiers.org/clinvar/14620 ^@ NM_000526.4(KRT14):c.357G>A (p.Met119Ile) http://identifiers.org/clinvar/14621 ^@ NM_000526.4(KRT14):c.1243T>C (p.Tyr415His) http://identifiers.org/clinvar/14622 ^@ NM_000526.4(KRT14):c.1256T>A (p.Leu419Gln) http://identifiers.org/clinvar/14623 ^@ NM_000526.4(KRT14):c.1264G>A (p.Glu422Lys) http://identifiers.org/clinvar/14624 ^@ KRT14, 1-BP DEL, 92T http://identifiers.org/clinvar/14625 ^@ KRT14, 1-BP DEL, 17G http://identifiers.org/clinvar/14626 ^@ NM_000526.4(KRT14):c.54C>A (p.Cys18Ter) http://identifiers.org/clinvar/14627 ^@ KRT14, 2-BP DEL, NT313 http://identifiers.org/clinvar/14628 ^@ NM_000526.4(KRT14):c.368A>G (p.Asn123Ser) http://identifiers.org/clinvar/14629 ^@ NM_153490.2(KRT13):c.356T>C (p.Leu119Pro) http://identifiers.org/clinvar/14630 ^@ NM_002273.3(KRT8):c.184G>T (p.Gly62Cys) http://identifiers.org/clinvar/14631 ^@ NM_002273.3(KRT8):c.160T>C (p.Tyr54His) http://identifiers.org/clinvar/14632 ^@ NM_057088.2(KRT3):c.1525G>A (p.Glu509Lys) http://identifiers.org/clinvar/14633 ^@ NM_005555.3(KRT6B):c.1414G>A (p.Glu472Lys) http://identifiers.org/clinvar/14634 ^@ NM_005554.3(KRT6A):c.516_518delCAA (p.Asn172del) http://identifiers.org/clinvar/14635 ^@ NM_005554.3(KRT6A):c.520T>G (p.Phe174Val) http://identifiers.org/clinvar/14636 ^@ NM_005554.3(KRT6A):c.1414G>A (p.Glu472Lys) http://identifiers.org/clinvar/14637 ^@ NM_005554.3(KRT6A):c.1406T>G (p.Leu469Arg) http://identifiers.org/clinvar/14638 ^@ NM_000424.3(KRT5):c.1424A>G (p.Glu475Gly) http://identifiers.org/clinvar/14639 ^@ NM_000424.3(KRT5):c.1388T>C (p.Leu463Pro) http://identifiers.org/clinvar/14640 ^@ NM_000424.3(KRT5):c.482T>G (p.Ile161Ser) http://identifiers.org/clinvar/14641 ^@ NM_000424.3(KRT5):c.980T>C (p.Met327Thr) http://identifiers.org/clinvar/14642 ^@ NM_000424.3(KRT5):c.987C>A (p.Asn329Lys) http://identifiers.org/clinvar/14643 ^@ NM_000424.3(KRT5):c.519G>C (p.Lys173Asn) http://identifiers.org/clinvar/14644 ^@ NM_000424.3(KRT5):c.579C>G (p.Asn193Lys) http://identifiers.org/clinvar/14645 ^@ NM_000424.3(KRT5):c.523C>T (p.Leu175Phe) http://identifiers.org/clinvar/14646 ^@ NM_000424.3(KRT5):c.20T>C (p.Val7Ala) http://identifiers.org/clinvar/14647 ^@ NM_000424.3(KRT5):c.14C>A (p.Ser5Ter) http://identifiers.org/clinvar/14648 ^@ NM_000424.3(KRT5):c.74C>T (p.Pro25Leu) http://identifiers.org/clinvar/14649 ^@ KRT5, IVS1DS, G-A, +1 http://identifiers.org/clinvar/14650 ^@ NM_000424.3(KRT5):c.541T>C (p.Ser181Pro) http://identifiers.org/clinvar/14651 ^@ KRT5, 1-BP DEL, 1635G http://identifiers.org/clinvar/14652 ^@ NM_000424.3(KRT5):c.556G>T (p.Val186Leu) http://identifiers.org/clinvar/14653 ^@ NM_000424.3(KRT5):c.1429G>T (p.Glu477Ter) http://identifiers.org/clinvar/14654 ^@ NM_000424.3(KRT5):c.1414A>T (p.Lys472Ter) http://identifiers.org/clinvar/14655 ^@ NM_000424.3(KRT5):c.1649delG (p.Gly550Alafs) http://identifiers.org/clinvar/14656 ^@ KRT5, 1-BP DUP, 418A http://identifiers.org/clinvar/14657 ^@ NM_000424.3(KRT5):c.508G>A (p.Glu170Lys) http://identifiers.org/clinvar/14658 ^@ NM_000424.3(KRT5):c.1252G>A (p.Glu418Lys) http://identifiers.org/clinvar/14659 ^@ NM_002257.3(KLK1):c.230G>A (p.Arg77His) http://identifiers.org/clinvar/14660 ^@ NM_000565.3(IL6R):c.1073A>C (p.Asp358Ala) http://identifiers.org/clinvar/14661 ^@ NM_000201.2(ICAM1):c.167A>T (p.Lys56Met) http://identifiers.org/clinvar/14662 ^@ NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) http://identifiers.org/clinvar/14663 ^@ NM_004972.3(JAK2):c.1821G>C (p.Lys607Asn) http://identifiers.org/clinvar/14664 ^@ NM_004972.3(JAK2):c.1615_1616delAAinsTT (p.Lys539Leu) http://identifiers.org/clinvar/14665 ^@ NM_000418.3(IL4R):c.1727A>G (p.Gln576Arg) http://identifiers.org/clinvar/14666 ^@ NM_000418.3(IL4R):c.223A>G (p.Ile75Val) http://identifiers.org/clinvar/14667 ^@ NM_000418.3(IL4R):c.1507T>C (p.Ser503Pro) http://identifiers.org/clinvar/14668 ^@ NM_000417.2(IL2RA):c.61_64delGCAG (p.Ala21Serfs) http://identifiers.org/clinvar/14669 ^@ NC_000010.11:g.6072697C>A http://identifiers.org/clinvar/14670 ^@ NC_000010.11:g.6080046T>A http://identifiers.org/clinvar/14671 ^@ NM_000576.2(IL1B):c.-118C>T http://identifiers.org/clinvar/14672 ^@ IL13, -1112C-T http://identifiers.org/clinvar/14673 ^@ NM_002188.2(IL13):c.431A>G (p.Gln144Arg) http://identifiers.org/clinvar/14674 ^@ IL1RN, IVS2, 86-BP DUP http://identifiers.org/clinvar/14675 ^@ NM_173842.2(IL1RN):c.229G>T (p.Glu77Ter) http://identifiers.org/clinvar/14676 ^@ NM_173842.2(IL1RN):c.160C>T (p.Gln54Ter) http://identifiers.org/clinvar/14677 ^@ IL1RN, 2-BP DEL, 156CA http://identifiers.org/clinvar/14678 ^@ IL1RN, 175-KB DEL http://identifiers.org/clinvar/14679 ^@ NM_000208.3(INSR):c.3104G>T (p.Gly1035Val) http://identifiers.org/clinvar/14680 ^@ NM_000208.3(INSR):c.1459A>G (p.Lys487Glu) http://identifiers.org/clinvar/14681 ^@ NM_000208.3(INSR):c.1177G>A (p.Gly393Arg) http://identifiers.org/clinvar/14682 ^@ NM_000208.3(INSR):c.2095C>T (p.Gln699Ter) http://identifiers.org/clinvar/14683 ^@ NM_000208.3(INSR):c.3680G>C (p.Trp1227Ser) http://identifiers.org/clinvar/14684 ^@ NM_000208.3(INSR):c.2286G>T (p.Arg762Ser) http://identifiers.org/clinvar/14685 ^@ INSR, EX17, ALU http://identifiers.org/clinvar/14686 ^@ NM_000208.3(INSR):c.2770C>T (p.Arg924Ter) http://identifiers.org/clinvar/14687 ^@ NM_000208.3(INSR):c.3481G>A (p.Ala1161Thr) http://identifiers.org/clinvar/14689 ^@ NM_000208.3(INSR):c.779T>C (p.Leu260Pro) http://identifiers.org/clinvar/14690 ^@ NM_000208.3(INSR):c.1225T>G (p.Phe409Val) http://identifiers.org/clinvar/14691 ^@ NM_000208.3(INSR):c.126C>A (p.Asn42Lys) http://identifiers.org/clinvar/14692 ^@ NM_000208.3(INSR):c.3079C>T (p.Arg1027Ter) http://identifiers.org/clinvar/14693 ^@ NM_000208.3(INSR):c.707A>G (p.His236Arg) http://identifiers.org/clinvar/14694 ^@ NM_000208.3(INSR):c.479G>A (p.Trp160Ter) http://identifiers.org/clinvar/14695 ^@ NM_000208.3(INSR):c.1466A>G (p.Asn489Ser) http://identifiers.org/clinvar/14696 ^@ NM_000208.3(INSR):c.2683-542_2842+544del http://identifiers.org/clinvar/14697 ^@ NM_000208.3(INSR):c.3059G>A (p.Arg1020Gln) http://identifiers.org/clinvar/14699 ^@ NM_000208.3(INSR):c.172G>A (p.Gly58Arg) http://identifiers.org/clinvar/14700 ^@ NM_000208.3(INSR):c.3572G>A (p.Arg1191Gln) http://identifiers.org/clinvar/14701 ^@ NM_000208.3(INSR):c.1195C>T (p.Arg399Ter) http://identifiers.org/clinvar/14702 ^@ NM_000208.3(INSR):c.164T>C (p.Val55Ala) http://identifiers.org/clinvar/14703 ^@ NM_000208.3(INSR):c.338G>C (p.Arg113Pro) http://identifiers.org/clinvar/14704 ^@ NM_000208.3(INSR):c.3485C>A (p.Ala1162Glu) http://identifiers.org/clinvar/14705 ^@ NM_000208.3(INSR):c.442A>T (p.Lys148Ter) http://identifiers.org/clinvar/14706 ^@ NC_000019.10:g.(?_7112255)_(7249328_?)del http://identifiers.org/clinvar/14707 ^@ NM_000208.3(INSR):c.3034G>A (p.Val1012Met) http://identifiers.org/clinvar/14708 ^@ NM_000208.3(INSR):c.3602G>A (p.Arg1201Gln) http://identifiers.org/clinvar/14709 ^@ NM_000208.3(INSR):c.3540G>A (p.Met1180Ile) http://identifiers.org/clinvar/14710 ^@ NM_000208.3(INSR):c.1316G>C (p.Trp439Ser) http://identifiers.org/clinvar/14711 ^@ NM_000208.3(INSR):c.438C>G (p.Ile146Met) http://identifiers.org/clinvar/14712 ^@ NM_000208.3(INSR):c.1124-2A>G http://identifiers.org/clinvar/14713 ^@ NM_000208.3(INSR):c.2480_2487delAGGACACC (p.Gln827Profs) http://identifiers.org/clinvar/14714 ^@ NM_000208.3(INSR):c.1372A>G (p.Asn458Asp) http://identifiers.org/clinvar/14716 ^@ NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) http://identifiers.org/clinvar/14717 ^@ NM_001289910.1(IDH2):c.262C>G (p.Arg88Gly) http://identifiers.org/clinvar/14718 ^@ IL6, -174G-C http://identifiers.org/clinvar/14719 ^@ IL6, -597G-A http://identifiers.org/clinvar/14720 ^@ NM_002198.2(IRF1):c.22A>T (p.Met8Leu) http://identifiers.org/clinvar/14721 ^@ NM_002198.2(IRF1):c.31T>C (p.Trp11Arg) http://identifiers.org/clinvar/14722 ^@ NM_000619.2(IFNG):c.115-484_115-457CA[12] http://identifiers.org/clinvar/14723 ^@ IFNG, +874A-T http://identifiers.org/clinvar/14724 ^@ IFNG, -179G-T http://identifiers.org/clinvar/14725 ^@ NM_000619.2(IFNG):c.-893C>G http://identifiers.org/clinvar/14726 ^@ NM_005534.3(IFNGR2):c.278_279delAG (p.Glu93Valfs) http://identifiers.org/clinvar/14727 ^@ NM_005534.3(IFNGR2):c.503C>A (p.Thr168Asn) http://identifiers.org/clinvar/14728 ^@ NM_005534.3(IFNGR2):c.663_689del27 (p.Phe224_Ile232del) http://identifiers.org/clinvar/14729 ^@ ITGB4, 1-BP INS, 3801T http://identifiers.org/clinvar/14730 ^@ ITGB4, 1-BP DEL, 1150G http://identifiers.org/clinvar/14731 ^@ NM_000213.4(ITGB4):c.4620delG (p.Thr1542Hisfs) http://identifiers.org/clinvar/14732 ^@ NM_000213.4(ITGB4):c.467T>C (p.Leu156Pro) http://identifiers.org/clinvar/14733 ^@ NM_000213.4(ITGB4):c.1660C>T (p.Arg554Ter) http://identifiers.org/clinvar/14734 ^@ NM_000213.4(ITGB4):c.182G>A (p.Cys61Tyr) http://identifiers.org/clinvar/14735 ^@ NM_000213.4(ITGB4):c.1684T>C (p.Cys562Arg) http://identifiers.org/clinvar/14736 ^@ NM_000213.4(ITGB4):c.3793+1G>A http://identifiers.org/clinvar/14737 ^@ NM_001005619.1(ITGB4):c.4592G>A (p.Trp1531Ter) http://identifiers.org/clinvar/14738 ^@ NM_000213.4(ITGB4):c.112T>C (p.Cys38Arg) http://identifiers.org/clinvar/14739 ^@ ITGB4, IVS31DS, T-A, -19 http://identifiers.org/clinvar/14740 ^@ NM_000213.4(ITGB4):c.2792G>A (p.Gly931Asp) http://identifiers.org/clinvar/14741 ^@ ITGB4, 2-BP DEL, 4733CT http://identifiers.org/clinvar/14742 ^@ NM_000213.4(ITGB4):c.3841C>T (p.Arg1281Trp) http://identifiers.org/clinvar/14743 ^@ NM_000213.4(ITGB4):c.3674G>A (p.Arg1225His) http://identifiers.org/clinvar/14744 ^@ ITGB4, 2,279-BP DEL http://identifiers.org/clinvar/14745 ^@ ITGA6, 1-BP DEL, 791C http://identifiers.org/clinvar/14746 ^@ NM_033453.3(ITPA):c.94C>A (p.Pro32Thr) http://identifiers.org/clinvar/14747 ^@ NM_033453.3(ITPA):c.124+21A>C http://identifiers.org/clinvar/14748 ^@ IGF2, 6815A-T http://identifiers.org/clinvar/14749 ^@ IGF2, 1156C-T http://identifiers.org/clinvar/14750 ^@ IGF2, 1926C-G http://identifiers.org/clinvar/14751 ^@ NM_001024465.2(SOD2):c.47T>C (p.Val16Ala) http://identifiers.org/clinvar/14752 ^@ NM_000454.4(SOD1):c.112G>A (p.Gly38Arg) http://identifiers.org/clinvar/14753 ^@ NM_000454.4(SOD1):c.115C>G (p.Leu39Val) http://identifiers.org/clinvar/14754 ^@ NM_000454.4(SOD1):c.124G>A (p.Gly42Ser) http://identifiers.org/clinvar/14755 ^@ NM_000454.4(SOD1):c.125G>A (p.Gly42Asp) http://identifiers.org/clinvar/14756 ^@ NM_000454.4(SOD1):c.131A>G (p.His44Arg) http://identifiers.org/clinvar/14757 ^@ NM_000454.4(SOD1):c.319C>G (p.Leu107Val) http://identifiers.org/clinvar/14758 ^@ NM_000454.4(SOD1):c.256G>C (p.Gly86Arg) http://identifiers.org/clinvar/14759 ^@ NM_000454.4(SOD1):c.280G>T (p.Gly94Cys) http://identifiers.org/clinvar/14760 ^@ NM_000454.4(SOD1):c.281G>C (p.Gly94Ala) http://identifiers.org/clinvar/14761 ^@ NM_000454.4(SOD1):c.302A>G (p.Glu101Gly) http://identifiers.org/clinvar/14762 ^@ NM_000454.4(SOD1):c.338T>C (p.Ile113Thr) http://identifiers.org/clinvar/14763 ^@ NM_000454.4(SOD1):c.14C>T (p.Ala5Val) http://identifiers.org/clinvar/14764 ^@ NM_000454.4(SOD1):c.140A>G (p.His47Arg) http://identifiers.org/clinvar/14765 ^@ NM_000454.4(SOD1):c.13G>A (p.Ala5Thr) http://identifiers.org/clinvar/14766 ^@ NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) http://identifiers.org/clinvar/14767 ^@ NM_000454.4(SOD1):c.313A>T (p.Ile105Phe) http://identifiers.org/clinvar/14768 ^@ NM_000454.4(SOD1):c.434T>C (p.Leu145Ser) http://identifiers.org/clinvar/14769 ^@ NM_000454.4(SOD1):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/14770 ^@ SOD1, IVS4AS, T-G, -10 http://identifiers.org/clinvar/14771 ^@ NM_000454.4(SOD1):c.20G>T (p.Cys7Phe) http://identifiers.org/clinvar/14772 ^@ NM_000454.4(SOD1):c.455T>C (p.Ile152Thr) http://identifiers.org/clinvar/14773 ^@ NM_000454.4(SOD1):c.64G>A (p.Glu22Lys) http://identifiers.org/clinvar/14774 ^@ NM_000454.4(SOD1):c.404G>A (p.Ser135Asn) http://identifiers.org/clinvar/14775 ^@ NM_000454.4(SOD1):c.253T>G (p.Leu85Val) http://identifiers.org/clinvar/14776 ^@ NM_000454.4(SOD1):c.49G>A (p.Gly17Ser) http://identifiers.org/clinvar/14777 ^@ NM_000454.4(SOD1):c.380T>A (p.Leu127Ter) http://identifiers.org/clinvar/14778 ^@ SOD1, IVS4AS, A-G, -11 http://identifiers.org/clinvar/14779 ^@ NM_000454.4(SOD1):c.217G>A (p.Gly73Ser) http://identifiers.org/clinvar/14780 ^@ NM_000454.4(SOD1):c.37G>C (p.Gly13Arg) http://identifiers.org/clinvar/14781 ^@ NM_000454.4(SOD1):c.137T>G (p.Phe46Cys) http://identifiers.org/clinvar/14782 ^@ NM_000454.4(SOD1):c.242A>G (p.His81Arg) http://identifiers.org/clinvar/14783 ^@ NM_000454.4(SOD1):c.289G>A (p.Asp97Asn) http://identifiers.org/clinvar/14784 ^@ NM_000454.4(SOD1):c.280G>C (p.Gly94Arg) http://identifiers.org/clinvar/14785 ^@ SOD1, 6-BP DEL, GGACCA http://identifiers.org/clinvar/14786 ^@ SOD1, IVS4AS, C-G, -304 http://identifiers.org/clinvar/14787 ^@ IGF1, EX4-5DEL http://identifiers.org/clinvar/14788 ^@ IGF1, MUTATION IN POLYADENYLATION SIGNAL, T-A http://identifiers.org/clinvar/14789 ^@ NM_001111284.1(IGF1):c.226G>A (p.Val76Met) http://identifiers.org/clinvar/14790 ^@ NM_000875.4(IGF1R):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/14791 ^@ NM_000875.4(IGF1R):c.435A>C (p.Lys145Asn) http://identifiers.org/clinvar/14792 ^@ NM_000875.4(IGF1R):c.265C>T (p.Arg89Ter) http://identifiers.org/clinvar/14793 ^@ NM_000875.4(IGF1R):c.2216G>A (p.Arg739Gln) http://identifiers.org/clinvar/14794 ^@ NM_000875.4(IGF1R):c.1532G>A (p.Arg511Gln) http://identifiers.org/clinvar/14795 ^@ NM_000876.3(IGF2R):c.4346G>T (p.Gly1449Val) http://identifiers.org/clinvar/14796 ^@ NM_000876.3(IGF2R):c.4391G>A (p.Gly1464Glu) http://identifiers.org/clinvar/14797 ^@ ITIH1, GLU551 AND GLN561 http://identifiers.org/clinvar/14798 ^@ ITIH1, VAL551 AND ARG561 http://identifiers.org/clinvar/14799 ^@ ITIH1, GLU551 AND ARG561 http://identifiers.org/clinvar/14800 ^@ NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del http://identifiers.org/clinvar/14801 ^@ NM_002222.5(ITPR1):c.3176C>T (p.Pro1059Leu) http://identifiers.org/clinvar/14802 ^@ NM_001039933.2(CD79B):c.412G>A (p.Gly138Ser) http://identifiers.org/clinvar/14803 ^@ NM_001039933.2(CD79B):c.241C>T (p.Gln81Ter) http://identifiers.org/clinvar/14804 ^@ IGKC, LEU191/VAL153 http://identifiers.org/clinvar/14805 ^@ IGKC, ALA153/LEU191 http://identifiers.org/clinvar/14806 ^@ IGKC, VAL191/ALA153 http://identifiers.org/clinvar/14807 ^@ NM_000139.4(MS4A2):c.710A>G (p.Glu237Gly) http://identifiers.org/clinvar/14808 ^@ IGHG2, 1-BP INS, 1793G http://identifiers.org/clinvar/14809 ^@ IGHM, 75-KB DEL http://identifiers.org/clinvar/14810 ^@ IGHM, IVS4AS, G-A, -1 http://identifiers.org/clinvar/14811 ^@ IGHM, CYS412GLY http://identifiers.org/clinvar/14812 ^@ IGHM, 2-BP DEL, AA http://identifiers.org/clinvar/14813 ^@ NC_000014.9:g.105855107C>T http://identifiers.org/clinvar/14814 ^@ NM_001558.3(IL10RA):c.421G>A (p.Gly141Arg) http://identifiers.org/clinvar/14815 ^@ NM_001558.3(IL10RA):c.251C>T (p.Thr84Ile) http://identifiers.org/clinvar/14816 ^@ IL8RA, HAPLOTYPE Ha http://identifiers.org/clinvar/14817 ^@ NM_001025107.2(ADAR):c.535C>T (p.Arg179Ter) http://identifiers.org/clinvar/14818 ^@ NM_001025107.2(ADAR):c.1883T>C (p.Leu628Pro) http://identifiers.org/clinvar/14819 ^@ NM_001025107.2(ADAR):c.1969A>T (p.Lys657Ter) http://identifiers.org/clinvar/14820 ^@ NM_001025107.2(ADAR):c.2609T>C (p.Phe870Ser) http://identifiers.org/clinvar/14821 ^@ NM_001025107.2(ADAR):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/14822 ^@ NM_001025107.2(ADAR):c.56_57delCT (p.Ser19Cysfs) http://identifiers.org/clinvar/14823 ^@ NM_021642.3(FCGR2A):c.497A>G (p.His166Arg) http://identifiers.org/clinvar/14824 ^@ NM_020070.3(IGLL1):c.64C>T (p.Gln22Ter) http://identifiers.org/clinvar/14825 ^@ NM_020070.3(IGLL1):c.425C>T (p.Pro142Leu) http://identifiers.org/clinvar/14826 ^@ NM_000566.3(FCGR1A):c.274C>T (p.Arg92Ter) http://identifiers.org/clinvar/14828 ^@ NM_001127593.1(FCGR3A):c.197T>A (p.Leu66His) http://identifiers.org/clinvar/14829 ^@ NM_005543.3(INSL3):c.330C>G (p.Asn110Lys) http://identifiers.org/clinvar/14830 ^@ NM_005543.3(INSL3):c.278C>T (p.Pro93Leu) http://identifiers.org/clinvar/14831 ^@ NM_005543.3(INSL3):c.304C>T (p.Arg102Cys) http://identifiers.org/clinvar/14832 ^@ NM_005543.3(INSL3):c.305G>A (p.Arg102His) http://identifiers.org/clinvar/14833 ^@ NM_000884.2(IMPDH2):c.787C>T (p.Leu263Phe) http://identifiers.org/clinvar/14834 ^@ NM_000883.3(IMPDH1):c.931G>A (p.Asp311Asn) http://identifiers.org/clinvar/14835 ^@ NM_000883.3(IMPDH1):c.1057G>A (p.Val353Ile) http://identifiers.org/clinvar/14836 ^@ NM_000883.3(IMPDH1):c.926G>C (p.Arg309Pro) http://identifiers.org/clinvar/14837 ^@ NM_000883.3(IMPDH1):c.568C>T (p.Arg190Trp) http://identifiers.org/clinvar/14838 ^@ NM_000883.3(IMPDH1):c.849T>G (p.Asn283Lys) http://identifiers.org/clinvar/14839 ^@ NM_002185.3(IL7R):c.197T>C (p.Ile66Thr) http://identifiers.org/clinvar/14840 ^@ NM_002185.3(IL7R):c.412G>A (p.Val138Ile) http://identifiers.org/clinvar/14841 ^@ IL7R, IVS4, G-A, -1 http://identifiers.org/clinvar/14842 ^@ NM_002185.3(IL7R):c.651G>A (p.Trp217Ter) http://identifiers.org/clinvar/14843 ^@ NM_002185.3(IL7R):c.394C>T (p.Pro132Ser) http://identifiers.org/clinvar/14844 ^@ NM_000183.2(HADHB):c.788A>G (p.Asp263Gly) http://identifiers.org/clinvar/14845 ^@ NM_000183.2(HADHB):c.182G>A (p.Arg61His) http://identifiers.org/clinvar/14846 ^@ NM_000183.2(HADHB):c.740G>A (p.Arg247His) http://identifiers.org/clinvar/14847 ^@ NM_000183.2(HADHB):c.1331G>A (p.Arg444Lys) http://identifiers.org/clinvar/14848 ^@ HADHB, 1-BP INS, 36-BP DEL http://identifiers.org/clinvar/14849 ^@ NM_000183.2(HADHB):c.1364T>G (p.Val455Gly) http://identifiers.org/clinvar/14850 ^@ MNX1, 1-BP DEL, 652A http://identifiers.org/clinvar/14851 ^@ NM_005515.3(MNX1):c.775C>T (p.Gln259Ter) http://identifiers.org/clinvar/14852 ^@ MNX1, 1-BP DEL, 414C http://identifiers.org/clinvar/14853 ^@ NM_005515.3(MNX1):c.492C>A (p.Tyr164Ter) http://identifiers.org/clinvar/14854 ^@ MNX1, 1-BP INS, 125C http://identifiers.org/clinvar/14855 ^@ MNX1, IVS2, A-G, -2 http://identifiers.org/clinvar/14856 ^@ MNX1, IVS2, G-A, +1 http://identifiers.org/clinvar/14857 ^@ NM_005515.3(MNX1):c.736A>T (p.Thr246Ser) http://identifiers.org/clinvar/14858 ^@ MNX1, 24-BP DEL/2-BP INS, NT577 http://identifiers.org/clinvar/14859 ^@ NM_005515.3(MNX1):c.844G>T (p.Glu282Ter) http://identifiers.org/clinvar/14860 ^@ NM_182894.2(VSX2):c.599G>A (p.Arg200Gln) http://identifiers.org/clinvar/14861 ^@ NM_182894.2(VSX2):c.599G>C (p.Arg200Pro) http://identifiers.org/clinvar/14862 ^@ NM_182894.2(VSX2):c.679C>T (p.Arg227Trp) http://identifiers.org/clinvar/14863 ^@ CHX10, 4-KB DEL, EXON 3 http://identifiers.org/clinvar/14864 ^@ CHX10, IVS1, G-A, -1 http://identifiers.org/clinvar/14865 ^@ HMX1, 26-BP DEL, NT215 http://identifiers.org/clinvar/14866 ^@ NM_000523.3(HOXD13):c.169_171GCG(15_22) (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/14867 ^@ NM_000523.3(HOXD13):c.323_336delCAGCACCCACGCCT (p.Pro108Argfs) http://identifiers.org/clinvar/14868 ^@ NM_000523.3(HOXD13):c.834delG (p.Lys279Argfs) http://identifiers.org/clinvar/14869 ^@ NM_000523.3(HOXD13):c.964A>C (p.Ile322Leu) http://identifiers.org/clinvar/14870 ^@ NM_000523.3(HOXD13):c.947C>G (p.Ser316Cys) http://identifiers.org/clinvar/14871 ^@ NM_000523.3(HOXD13):c.782-2delA http://identifiers.org/clinvar/14872 ^@ NM_000523.3(HOXD13):c.916C>T (p.Arg306Trp) http://identifiers.org/clinvar/14873 ^@ NM_000523.3(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/14874 ^@ NM_000523.3(HOXD13):c.974A>G (p.Gln325Arg) http://identifiers.org/clinvar/14875 ^@ NM_000523.3(HOXD13):c.183_203del21 (p.Ala65_Ala71del) http://identifiers.org/clinvar/14876 ^@ NM_000523.3(HOXD13):c.683G>T (p.Gly228Val) http://identifiers.org/clinvar/14877 ^@ NM_000523.3(HOXD13):c.164_184del21 (p.Gly55_Ala61del) http://identifiers.org/clinvar/14878 ^@ NM_002148.3(HOXD10):c.956T>A (p.Met319Lys) http://identifiers.org/clinvar/14879 ^@ NM_002448.3(MSX1):c.605G>C (p.Arg202Pro) http://identifiers.org/clinvar/14880 ^@ NM_002448.3(MSX1):c.332C>A (p.Ser111Ter) http://identifiers.org/clinvar/14881 ^@ NM_002448.3(MSX1):c.577C>T (p.Gln193Ter) http://identifiers.org/clinvar/14882 ^@ NM_002448.3(MSX1):c.623C>A (p.Ser208Ter) http://identifiers.org/clinvar/14883 ^@ NM_002448.3(MSX1):c.251A>T (p.Glu84Val) http://identifiers.org/clinvar/14884 ^@ NM_002448.3(MSX1):c.365G>A (p.Gly122Glu) http://identifiers.org/clinvar/14885 ^@ NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) http://identifiers.org/clinvar/14886 ^@ NM_002448.3(MSX1):c.200T>A (p.Met67Lys) http://identifiers.org/clinvar/14887 ^@ MSX1, 1-BP DUP, 62G http://identifiers.org/clinvar/14888 ^@ NM_014621.2(HOXD4):c.242A>T (p.Glu81Val) http://identifiers.org/clinvar/14889 ^@ NM_000522.4(HOXA13):c.1107G>A (p.Trp369Ter) http://identifiers.org/clinvar/14890 ^@ HOXA13, 407A-C http://identifiers.org/clinvar/14891 ^@ HOXA13, 24-BP INS, 8-ALA EXP http://identifiers.org/clinvar/14892 ^@ NM_000522.4(HOXA13):c.1114A>C (p.Asn372His) http://identifiers.org/clinvar/14893 ^@ HOXA13, GLN50LEU, 2-BP DEL, -79GC http://identifiers.org/clinvar/14894 ^@ HOXA13, 18-BP INS, 6-ALA EXP http://identifiers.org/clinvar/14895 ^@ HOXA13, 27-BP INS, 9-ALA EXP http://identifiers.org/clinvar/14896 ^@ NM_000522.4(HOXA13):c.355_406dup52 (p.Ser136Cysfs) http://identifiers.org/clinvar/14897 ^@ NM_005523.5(HOXA11):c.872delA (p.Asn291Thrfs) http://identifiers.org/clinvar/14898 ^@ HOXA1, 1-BP INS, 175G http://identifiers.org/clinvar/14899 ^@ NM_005522.4(HOXA1):c.84C>G (p.Tyr28Ter) http://identifiers.org/clinvar/14900 ^@ NM_005522.4(HOXA1):c.76C>T (p.Arg26Ter) http://identifiers.org/clinvar/14901 ^@ HOXA1, 1-BP DEL, 185G http://identifiers.org/clinvar/14902 ^@ HMGCR, HAPLOTYPE, HAP7 (rs17244841, rs17238540) http://identifiers.org/clinvar/14903 ^@ NM_000859.2(HMGCR):c.1368+1176A>T http://identifiers.org/clinvar/14904 ^@ NM_002121.5(HLA-DPB1):c.292A>G (p.Lys98Glu) http://identifiers.org/clinvar/14905 ^@ HLA-DRB1, HLA-DRB1*1101 http://identifiers.org/clinvar/14906 ^@ HLA-C, HLA-Cw6 http://identifiers.org/clinvar/14907 ^@ NC_000006.12:g.31306603T>C http://identifiers.org/clinvar/14908 ^@ HLA-B, HLA-B27 http://identifiers.org/clinvar/14909 ^@ HLA-B*15:02 http://identifiers.org/clinvar/14910 ^@ HLA-B*57:01 http://identifiers.org/clinvar/14911 ^@ HLA-B, HLA-B*5801 http://identifiers.org/clinvar/14912 ^@ NM_002112.3(HDC):c.951G>A (p.Trp317Ter) http://identifiers.org/clinvar/242782 ^@ NM_000200.2(HTN3):c.141T>A (p.Tyr47Ter) http://identifiers.org/clinvar/14914 ^@ NM_000412.4(HRG):c.308G>A (p.Gly103Glu) http://identifiers.org/clinvar/14915 ^@ HK1, 96-BP DEL http://identifiers.org/clinvar/14916 ^@ NM_033500.2(HK1):c.1550T>C (p.Leu517Ser) http://identifiers.org/clinvar/14917 ^@ HSPG2, IVS64DS, A-G, +4 http://identifiers.org/clinvar/14918 ^@ NM_005529.6(HSPG2):c.4595G>A (p.Cys1532Tyr) http://identifiers.org/clinvar/14919 ^@ HSPG2, 89-BP DUP, EX34 http://identifiers.org/clinvar/14920 ^@ HSPG2, 7086G-A, +5 http://identifiers.org/clinvar/14921 ^@ HSPG2, 10328C-T http://identifiers.org/clinvar/14922 ^@ HSPG2, IVS56DS, A-G, +4 http://identifiers.org/clinvar/14923 ^@ HSPG2, EX60/61 FUSION http://identifiers.org/clinvar/14924 ^@ HSPG2, 8544G-A http://identifiers.org/clinvar/14925 ^@ HSPG2, 9-BP DEL http://identifiers.org/clinvar/14926 ^@ HSPG2, 7,108-BP DEL http://identifiers.org/clinvar/14927 ^@ NM_000545.6(HNF1A):c.872dupC (p.Gly292Argfs) http://identifiers.org/clinvar/14928 ^@ NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) http://identifiers.org/clinvar/14929 ^@ HNF1A, 1-BP DEL http://identifiers.org/clinvar/14930 ^@ NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys) http://identifiers.org/clinvar/14931 ^@ NM_000545.6(HNF1A):c.815G>A (p.Arg272His) http://identifiers.org/clinvar/14932 ^@ NM_000545.6(HNF1A):c.1747C>G (p.Arg583Gly) http://identifiers.org/clinvar/14933 ^@ HNF1A, A-C, -58 http://identifiers.org/clinvar/14934 ^@ NM_000545.6(HNF1A):c.955G>A (p.Gly319Ser) http://identifiers.org/clinvar/14935 ^@ NM_000545.6(HNF1A):c.1859C>T (p.Thr620Ile) http://identifiers.org/clinvar/14936 ^@ HNF1A, 1-BP DEL, -119G http://identifiers.org/clinvar/14937 ^@ NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) http://identifiers.org/clinvar/14938 ^@ HNF1A, 1-BP DEL, 142G http://identifiers.org/clinvar/14939 ^@ NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser) http://identifiers.org/clinvar/14940 ^@ NM_000545.6(HNF1A):c.1748G>A (p.Arg583Gln) http://identifiers.org/clinvar/14941 ^@ HNF1A, IVS3, G-A, -1 http://identifiers.org/clinvar/14942 ^@ NM_000545.6(HNF1A):c.335C>T (p.Pro112Leu) http://identifiers.org/clinvar/14943 ^@ NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp) http://identifiers.org/clinvar/14944 ^@ HNF1A, 4-BP DEL http://identifiers.org/clinvar/14945 ^@ NM_000545.6(HNF1A):c.827C>A (p.Ala276Asp) http://identifiers.org/clinvar/14946 ^@ HNF1A, 2-BP DEL, AG http://identifiers.org/clinvar/14947 ^@ NM_000545.6(HNF1A):c.1592G>C (p.Ser531Thr) http://identifiers.org/clinvar/14948 ^@ NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) http://identifiers.org/clinvar/14949 ^@ NM_000601.5(HGF):c.495G>A (p.Ser165=) http://identifiers.org/clinvar/14950 ^@ HGF, 3-BP DEL, 1986TGA http://identifiers.org/clinvar/14951 ^@ HGF, 10-BP DEL, NT482+1991 http://identifiers.org/clinvar/14952 ^@ NM_000185.3(SERPIND1):c.623G>A (p.Arg208His) http://identifiers.org/clinvar/14953 ^@ NM_000185.3(SERPIND1):c.321dupT (p.Val108Cysfs) http://identifiers.org/clinvar/14954 ^@ NM_000185.3(SERPIND1):c.1429_1430delTT (p.Phe477Profs) http://identifiers.org/clinvar/14955 ^@ NM_000185.3(SERPIND1):c.1385C>T (p.Pro462Leu) http://identifiers.org/clinvar/14957 ^@ NM_000184.2(HBG2):c.25A>C (p.Lys9Gln) http://identifiers.org/clinvar/14958 ^@ NM_000184.2(HBG2):c.22G>A (p.Asp8Asn) http://identifiers.org/clinvar/14959 ^@ NM_000184.2(HBG2):c.361A>C (p.Lys121Gln) http://identifiers.org/clinvar/14960 ^@ NM_000184.2(HBG2):c.364G>A (p.Glu122Lys) http://identifiers.org/clinvar/14961 ^@ NM_000184.2(HBG2):c.198G>C (p.Lys66Asn) http://identifiers.org/clinvar/14962 ^@ NM_000184.2(HBG2):c.283G>A (p.Asp95Asn) http://identifiers.org/clinvar/14963 ^@ NM_000184.2(HBG2):c.64G>C (p.Glu22Gln) http://identifiers.org/clinvar/14964 ^@ NM_000184.2(HBG2):c.38C>G (p.Thr13Arg) http://identifiers.org/clinvar/14965 ^@ NM_000184.2(HBG2):c.233A>G (p.His78Arg) http://identifiers.org/clinvar/14966 ^@ NM_000184.2(HBG2):c.167T>G (p.Met56Arg) http://identifiers.org/clinvar/14967 ^@ NM_000184.2(HBG2):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/14968 ^@ NM_000184.2(HBG2):c.133A>C (p.Ser45Arg) http://identifiers.org/clinvar/14969 ^@ NM_000184.2(HBG2):c.4G>T (p.Gly2Cys) http://identifiers.org/clinvar/14970 ^@ NM_000184.2(HBG2):c.353A>G (p.His118Arg) http://identifiers.org/clinvar/14971 ^@ NM_000184.2(HBG2):c.241G>A (p.Asp81Asn) http://identifiers.org/clinvar/14972 ^@ NM_000184.2(HBG2):c.17A>G (p.Glu6Gly) http://identifiers.org/clinvar/14973 ^@ NM_000184.2(HBG2):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/14974 ^@ NM_000184.2(HBG2):c.217G>C (p.Gly73Arg) http://identifiers.org/clinvar/14975 ^@ NM_000184.2(HBG2):c.79G>A (p.Glu27Lys) http://identifiers.org/clinvar/14976 ^@ NM_000184.2(HBG2):c.391T>G (p.Trp131Gly) http://identifiers.org/clinvar/14977 ^@ NM_000184.2(HBG2):c.377A>C (p.Glu126Ala) http://identifiers.org/clinvar/14978 ^@ NM_000184.2(HBG2):c.200A>G (p.Lys67Arg) http://identifiers.org/clinvar/14979 ^@ NM_000184.2(HBG2):c.103G>A (p.Val35Ile) http://identifiers.org/clinvar/14980 ^@ NM_000184.2(HBG2):c.68A>G (p.Asp23Gly) http://identifiers.org/clinvar/14981 ^@ NM_000184.2(HBG2):c.190C>T (p.His64Tyr) http://identifiers.org/clinvar/14982 ^@ NM_000184.2(HBG2):c.-255C>G http://identifiers.org/clinvar/14983 ^@ NM_000184.2(HBG2):c.-228T>C http://identifiers.org/clinvar/14984 ^@ NM_000184.2(HBG2):c.-211C>T http://identifiers.org/clinvar/14985 ^@ NM_000184.2(HBG2):c.68A>T (p.Asp23Val) http://identifiers.org/clinvar/14986 ^@ NM_000184.2(HBG2):c.122G>A (p.Arg41Lys) http://identifiers.org/clinvar/14987 ^@ NM_000184.2(HBG2):c.199A>C (p.Lys67Gln) http://identifiers.org/clinvar/14988 ^@ NM_000184.2(HBG2):c.439C>T (p.His147Tyr) http://identifiers.org/clinvar/14989 ^@ NM_000184.2(HBG2):c.277C>T (p.His93Tyr) http://identifiers.org/clinvar/14990 ^@ NM_000184.2(HBG2):c.-167C>T http://identifiers.org/clinvar/14991 ^@ NM_000184.2(HBG2):c.46T>C (p.Trp16Arg) http://identifiers.org/clinvar/14992 ^@ NM_000184.2(HBG2):c.77G>A (p.Gly26Glu) http://identifiers.org/clinvar/14993 ^@ NM_000184.2(HBG2):c.178A>C (p.Lys60Gln) http://identifiers.org/clinvar/14994 ^@ NM_000184.2(HBG2):c.227T>C (p.Ile76Thr) http://identifiers.org/clinvar/14995 ^@ NM_000184.2(HBG2):c.315G>C (p.Lys105Asn) http://identifiers.org/clinvar/14996 ^@ NM_000184.2(HBG2):c.125T>C (p.Phe42Ser) http://identifiers.org/clinvar/14997 ^@ NM_000184.2(HBG2):c.178A>G (p.Lys60Glu) http://identifiers.org/clinvar/14999 ^@ NM_000184.2(HBG2):c.121A>G (p.Arg41Gly) http://identifiers.org/clinvar/15001 ^@ NM_000184.2(HBG2):c.-167C>A http://identifiers.org/clinvar/15002 ^@ NM_000184.2(HBG2):c.355T>C (p.Phe119Leu) http://identifiers.org/clinvar/15003 ^@ NM_000184.2(HBG2):c.54G>C (p.Lys18Asn) http://identifiers.org/clinvar/15004 ^@ NM_000184.2(HBG2):c.60T>A (p.Asn20Lys) http://identifiers.org/clinvar/15005 ^@ NM_000559.2(HBG1):c.227C>T (p.Thr76Ile) http://identifiers.org/clinvar/15006 ^@ NM_000559.2(HBG1):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/15007 ^@ NM_000559.2(HBG1):c.161C>A (p.Ala54Asp) http://identifiers.org/clinvar/15008 ^@ NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) http://identifiers.org/clinvar/15009 ^@ NM_000559.2(HBG1):c.38C>G (p.Thr13Arg) http://identifiers.org/clinvar/15010 ^@ NM_000559.2(HBG1):c.112T>G (p.Trp38Gly) http://identifiers.org/clinvar/15011 ^@ NM_000559.2(HBG1):c.238G>A (p.Asp80Asn) http://identifiers.org/clinvar/15012 ^@ NM_000559.2(HBG1):c.293A>G (p.His98Arg) http://identifiers.org/clinvar/15013 ^@ NM_000559.2(HBG1):c.220G>A (p.Asp74Asn) http://identifiers.org/clinvar/15014 ^@ NM_000559.2(HBG1):c.130G>A (p.Asp44Asn) http://identifiers.org/clinvar/15015 ^@ NM_000559.2(HBG1):c.217G>C (p.Gly73Arg) http://identifiers.org/clinvar/15016 ^@ NM_000559.2(HBG1):c.20A>G (p.Glu7Gly) http://identifiers.org/clinvar/15017 ^@ NM_000559.2(HBG1):c.184A>G (p.Lys62Glu) http://identifiers.org/clinvar/15019 ^@ NM_000559.2(HBG1):c.68A>G (p.Asp23Gly) http://identifiers.org/clinvar/15020 ^@ NM_000559.2(HBG1):c.110C>G (p.Pro37Arg) http://identifiers.org/clinvar/15021 ^@ NM_000559.2(HBG1):c.19G>C (p.Glu7Gln) http://identifiers.org/clinvar/15023 ^@ NM_000559.2(HBG1):c.364G>A (p.Glu122Lys) http://identifiers.org/clinvar/15024 ^@ NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) http://identifiers.org/clinvar/15025 ^@ NM_000559.2(HBG1):c.241G>T (p.Asp81Tyr) http://identifiers.org/clinvar/15026 ^@ NM_000559.2(HBG1):c.76G>C (p.Gly26Arg) http://identifiers.org/clinvar/15027 ^@ NM_000559.2(HBG1):c.220G>C (p.Asp74His) http://identifiers.org/clinvar/15028 ^@ NM_000559.2(HBG1):c.241G>A (p.Asp81Asn) http://identifiers.org/clinvar/15029 ^@ HBG1, 1-81/HBD, 86-146 http://identifiers.org/clinvar/15030 ^@ NM_000559.2(HBG1):c.-170G>A http://identifiers.org/clinvar/15031 ^@ NM_000559.2(HBG1):c.-251T>C http://identifiers.org/clinvar/15032 ^@ NM_000559.2(HBG1):c.403G>A (p.Val135Met) http://identifiers.org/clinvar/15033 ^@ NM_000559.2(HBG1):c.-53-196C>T http://identifiers.org/clinvar/15034 ^@ NM_000559.2(HBG1):c.-53-195C>G http://identifiers.org/clinvar/15035 ^@ NM_000559.2(HBG1):c.-167C>T http://identifiers.org/clinvar/15037 ^@ NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) http://identifiers.org/clinvar/15038 ^@ HBG1, 4-BP DEL, -222 TO -225 http://identifiers.org/clinvar/15039 ^@ NM_000559.2(HBG1):c.9T>G (p.His3Gln) http://identifiers.org/clinvar/15040 ^@ HBG1, C-T, -158 http://identifiers.org/clinvar/242781 ^@ NM_000559.2(HBG1):c.409G>T (p.Ala137Ser) http://identifiers.org/clinvar/15042 ^@ NM_000519.3(HBD):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/15043 ^@ NM_000519.3(HBD):c.155C>G (p.Pro52Arg) http://identifiers.org/clinvar/15044 ^@ NM_000519.3(HBD):c.410G>A (p.Gly137Asp) http://identifiers.org/clinvar/15045 ^@ NM_000519.3(HBD):c.298G>A (p.Asp100Asn) http://identifiers.org/clinvar/15046 ^@ NM_000519.3(HBD):c.350G>A (p.Arg117His) http://identifiers.org/clinvar/15047 ^@ NM_000519.3(HBD):c.428C>A (p.Ala143Asp) http://identifiers.org/clinvar/15048 ^@ NM_000519.3(HBD):c.68C>A (p.Ala23Glu) http://identifiers.org/clinvar/15049 ^@ NM_000519.3(HBD):c.272A>T (p.Glu91Val) http://identifiers.org/clinvar/15050 ^@ NM_000519.3(HBD):c.208G>C (p.Gly70Arg) http://identifiers.org/clinvar/15051 ^@ NM_000519.3(HBD):c.365A>T (p.Glu122Val) http://identifiers.org/clinvar/15052 ^@ NM_000519.3(HBD):c.130G>A (p.Glu44Lys) http://identifiers.org/clinvar/15053 ^@ NM_000519.3(HBD):c.39T>A (p.Asn13Lys) http://identifiers.org/clinvar/15054 ^@ NM_000519.3(HBD):c.62T>A (p.Val21Glu) http://identifiers.org/clinvar/15055 ^@ NM_000519.3(HBD):c.8A>G (p.His3Arg) http://identifiers.org/clinvar/15056 ^@ NM_000519.3(HBD):c.74G>A (p.Gly25Asp) http://identifiers.org/clinvar/15057 ^@ NM_000519.3(HBD):c.295G>A (p.Val99Met) http://identifiers.org/clinvar/15058 ^@ NM_000519.3(HBD):c.77G>A (p.Gly26Asp) http://identifiers.org/clinvar/15059 ^@ NM_000519.3(HBD):c.376C>G (p.Gln126Glu) http://identifiers.org/clinvar/15060 ^@ NG_000007.3:g.63564_70978del7415 http://identifiers.org/clinvar/15061 ^@ NG_000007.3:g.63632_71046del7415 http://identifiers.org/clinvar/15062 ^@ NM_000519.3(HBD):c.425T>C (p.Leu142Pro) http://identifiers.org/clinvar/15063 ^@ NM_000518.4(HBB):c.-7305_92+16del http://identifiers.org/clinvar/15064 ^@ HBD, HBD1-12/HBB22-50/HBD87-146 FUSION http://identifiers.org/clinvar/15065 ^@ NM_000519.3(HBD):c.179delA (p.Lys60Argfs) http://identifiers.org/clinvar/15066 ^@ NM_000519.3(HBD):c.349C>T (p.Arg117Cys) http://identifiers.org/clinvar/15067 ^@ NM_000519.3(HBD):c.143A>T (p.Asp48Val) http://identifiers.org/clinvar/15068 ^@ NM_000519.3(HBD):c.*199G>A http://identifiers.org/clinvar/15069 ^@ NM_000519.3(HBD):c.5T>C (p.Val2Ala) http://identifiers.org/clinvar/15070 ^@ NM_000519.3(HBD):c.82G>T (p.Ala28Ser) http://identifiers.org/clinvar/15071 ^@ NM_000519.3(HBD):c.92G>C (p.Arg31Thr) http://identifiers.org/clinvar/15072 ^@ NM_000519.3(HBD):c.-127T>C http://identifiers.org/clinvar/15073 ^@ HBD, IVS2AS, A-G, -2 http://identifiers.org/clinvar/15074 ^@ NM_000519.3(HBD):c.226C>G (p.Leu76Val) http://identifiers.org/clinvar/15075 ^@ NM_000519.3(HBD):c.81G>C (p.Glu27Asp) http://identifiers.org/clinvar/15076 ^@ NM_000519.3(HBD):c.113G>A (p.Trp38Ter) http://identifiers.org/clinvar/15077 ^@ NM_000519.3(HBD):c.280T>G (p.Cys94Gly) http://identifiers.org/clinvar/15078 ^@ NM_000519.3(HBD):c.131A>G (p.Glu44Gly) http://identifiers.org/clinvar/15079 ^@ NM_000519.3(HBD):c.440A>G (p.His147Arg) http://identifiers.org/clinvar/15080 ^@ NM_000519.3(HBD):c.110C>A (p.Pro37His) http://identifiers.org/clinvar/15081 ^@ NM_000519.3(HBD):c.174C>A (p.Asn58Lys) http://identifiers.org/clinvar/15082 ^@ NM_000519.3(HBD):c.265C>G (p.Leu89Val) http://identifiers.org/clinvar/15083 ^@ NM_000519.3(HBD):c.315G>T (p.Arg105Ser) http://identifiers.org/clinvar/15084 ^@ NM_000519.3(HBD):c.315+6T>A http://identifiers.org/clinvar/15085 ^@ NM_000519.3(HBD):c.-126A>T http://identifiers.org/clinvar/15086 ^@ NM_000519.3(HBD):c.401T>C (p.Val134Ala) http://identifiers.org/clinvar/15087 ^@ NM_000519.3(HBD):c.-81A>G http://identifiers.org/clinvar/15089 ^@ NM_000518.4(HBB):c.223G>C (p.Gly75Arg) http://identifiers.org/clinvar/15090 ^@ NM_000518.4(HBB):c.431A>G (p.His144Arg) http://identifiers.org/clinvar/15091 ^@ NM_000518.4(HBB):c.271G>A (p.Glu91Lys) http://identifiers.org/clinvar/15092 ^@ HBB, GLN39LYS http://identifiers.org/clinvar/15093 ^@ NM_000518.4(HBB):c.58A>G (p.Asn20Asp) http://identifiers.org/clinvar/15094 ^@ NM_000518.4(HBB):c.305A>G (p.Glu102Gly) http://identifiers.org/clinvar/15095 ^@ NM_000518.4(HBB):c.406G>C (p.Ala136Pro) http://identifiers.org/clinvar/15096 ^@ NM_000518.4(HBB):c.435G>C (p.Lys145Asn) http://identifiers.org/clinvar/15097 ^@ NM_000518.4(HBB):c.32C>A (p.Ala11Asp) http://identifiers.org/clinvar/15099 ^@ NM_000518.4(HBB):c.122G>A (p.Arg41Lys) http://identifiers.org/clinvar/15100 ^@ NM_000518.4(HBB):c.227T>C (p.Leu76Pro) http://identifiers.org/clinvar/15102 ^@ NM_000518.4(HBB):c.123G>C (p.Arg41Ser) http://identifiers.org/clinvar/15103 ^@ NM_000518.4(HBB):c.143A>C (p.Asp48Ala) http://identifiers.org/clinvar/15104 ^@ NM_000518.4(HBB):c.283G>C (p.Asp95His) http://identifiers.org/clinvar/15105 ^@ NM_000518.4(HBB):c.245T>G (p.Leu82Arg) http://identifiers.org/clinvar/15106 ^@ NM_000518.4(HBB):c.380T>C (p.Val127Ala) http://identifiers.org/clinvar/15107 ^@ NM_000518.4(HBB):c.46T>A (p.Trp16Arg) http://identifiers.org/clinvar/15108 ^@ NM_000518.4(HBB):c.266T>G (p.Leu89Arg) http://identifiers.org/clinvar/15109 ^@ NM_000518.4(HBB):c.359G>T (p.Gly120Val) http://identifiers.org/clinvar/15110 ^@ NM_000518.4(HBB):c.365A>T (p.Glu122Val) http://identifiers.org/clinvar/15111 ^@ NM_000518.4(HBB):c.308A>G (p.Asn103Ser) http://identifiers.org/clinvar/15112 ^@ NM_000518.4(HBB):c.436T>C (p.Tyr146His) http://identifiers.org/clinvar/15113 ^@ NM_000518.4(HBB):c.191A>C (p.His64Pro) http://identifiers.org/clinvar/15114 ^@ NM_000518.4(HBB):c.185A>T (p.Lys62Met) http://identifiers.org/clinvar/15115 ^@ NM_000518.4(HBB):c.382C>A (p.Gln128Lys) http://identifiers.org/clinvar/15116 ^@ NM_000518.4(HBB):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/15117 ^@ NM_000518.4(HBB):c.206T>A (p.Leu69His) http://identifiers.org/clinvar/15118 ^@ NM_000518.4(HBB):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/15119 ^@ NM_000518.4(HBB):c.415G>C (p.Ala139Pro) http://identifiers.org/clinvar/15121 ^@ NM_000518.4(HBB):c.127_129delTTT (p.Phe43del) http://identifiers.org/clinvar/15122 ^@ NM_000518.4(HBB):c.257T>C (p.Phe86Ser) http://identifiers.org/clinvar/15123 ^@ NM_000518.4(HBB):c.283G>A (p.Asp95Asn) http://identifiers.org/clinvar/15124 ^@ NM_000518.4(HBB):c.322G>C (p.Gly108Arg) http://identifiers.org/clinvar/15125 ^@ NM_000518.4(HBB):c.224G>T (p.Gly75Val) http://identifiers.org/clinvar/15126 ^@ NM_000518.4(HBB):c.19G>A (p.Glu7Lys) http://identifiers.org/clinvar/15129 ^@ HBB, GLN131GLU http://identifiers.org/clinvar/15130 ^@ NM_000518.4(HBB):c.315G>Y (p.Arg105Ser) http://identifiers.org/clinvar/15131 ^@ NM_000518.4(HBB):c.275T>G (p.Leu92Arg) http://identifiers.org/clinvar/15132 ^@ NM_000518.4(HBB):c.98T>G (p.Leu33Arg) http://identifiers.org/clinvar/15133 ^@ NM_000518.4(HBB):c.284A>G (p.Asp95Gly) http://identifiers.org/clinvar/15134 ^@ NM_000518.4(HBB):c.299A>T (p.Asp100Val) http://identifiers.org/clinvar/15135 ^@ NM_000518.4(HBB):c.137T>C (p.Phe46Ser) http://identifiers.org/clinvar/15136 ^@ NM_000518.4(HBB):c.200A>C (p.Lys67Thr) http://identifiers.org/clinvar/15137 ^@ NM_000518.4(HBB):c.215T>C (p.Phe72Ser) http://identifiers.org/clinvar/15138 ^@ NM_000518.4(HBB):c.208G>A (p.Gly70Ser) http://identifiers.org/clinvar/15139 ^@ NM_000518.4(HBB):c.440A>G (p.His147Arg) http://identifiers.org/clinvar/15140 ^@ NM_000518.4(HBB):c.64G>A (p.Asp22Asn) http://identifiers.org/clinvar/15141 ^@ NM_000518.4(HBB):c.182T>C (p.Val61Ala) http://identifiers.org/clinvar/15142 ^@ NM_000518.4(HBB):c.65A>G (p.Asp22Gly) http://identifiers.org/clinvar/15143 ^@ NM_000518.4(HBB):c.424_426delCTG (p.Leu142del) http://identifiers.org/clinvar/15144 ^@ NM_000518.4(HBB):c.440A>T (p.His147Leu) http://identifiers.org/clinvar/15145 ^@ NM_000518.4(HBB):c.436_437insCT (p.Tyr146Serfs) http://identifiers.org/clinvar/15146 ^@ NM_000518.4(HBB):c.388G>C (p.Ala130Pro) http://identifiers.org/clinvar/15147 ^@ NM_000518.4(HBB):c.269G>A (p.Ser90Asn) http://identifiers.org/clinvar/15148 ^@ NM_000518.4(HBB):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/15149 ^@ NM_000518.4(HBB):c.68A>T (p.Glu23Val) http://identifiers.org/clinvar/15150 ^@ NM_000518.4(HBB):c.263C>A (p.Thr88Lys) http://identifiers.org/clinvar/15151 ^@ NM_000518.4(HBB):c.67G>C (p.Glu23Gln) http://identifiers.org/clinvar/15152 ^@ NM_000518.4(HBB):c.364G>C (p.Glu122Gln) http://identifiers.org/clinvar/15153 ^@ NM_000518.4(HBB):c.60C>A (p.Asn20Lys) http://identifiers.org/clinvar/15154 ^@ HBB, 2-BP INS, 25TA http://identifiers.org/clinvar/15155 ^@ HBB, 1-BP DEL, C http://identifiers.org/clinvar/15156 ^@ NM_000518.4(HBB):c.8A>G (p.His3Arg) http://identifiers.org/clinvar/15157 ^@ NM_000518.4(HBB):c.288G>C (p.Lys96Asn) http://identifiers.org/clinvar/15158 ^@ NM_000518.4(HBB):c.296T>C (p.Val99Ala) http://identifiers.org/clinvar/15159 ^@ NM_000518.4(HBB):c.5T>A (p.Val2Glu) http://identifiers.org/clinvar/15160 ^@ NM_000518.4(HBB):c.187G>C (p.Ala63Pro) http://identifiers.org/clinvar/15161 ^@ NM_000518.4(HBB):c.79G>A (p.Glu27Lys) http://identifiers.org/clinvar/15162 ^@ NM_000518.4(HBB):c.67G>A (p.Glu23Lys) http://identifiers.org/clinvar/15163 ^@ HBB, THR50LYS http://identifiers.org/clinvar/15164 ^@ NM_000518.4(HBB):c.400G>C (p.Val134Leu) http://identifiers.org/clinvar/242780 ^@ NM_000518.4(HBB):c.334G>C (p.Val112Leu) http://identifiers.org/clinvar/15166 ^@ NM_000518.4(HBB):c.70_72delGTT (p.Val24del) http://identifiers.org/clinvar/15167 ^@ NM_000518.4(HBB):c.7C>T (p.His3Tyr) http://identifiers.org/clinvar/15168 ^@ NM_000518.4(HBB):c.232C>T (p.His78Tyr) http://identifiers.org/clinvar/15169 ^@ NM_000518.4(HBB):c.238G>A (p.Asp80Asn) http://identifiers.org/clinvar/15170 ^@ NM_000518.4(HBB):c.142G>A (p.Asp48Asn) http://identifiers.org/clinvar/15171 ^@ NM_000518.4(HBB):c.68A>C (p.Glu23Ala) http://identifiers.org/clinvar/15172 ^@ NM_000518.4(HBB):c.174C>A (p.Asn58Lys) http://identifiers.org/clinvar/15173 ^@ NM_000518.4(HBB):c.131A>C (p.Glu44Ala) http://identifiers.org/clinvar/15174 ^@ NM_000518.4(HBB):c.239A>G (p.Asp80Gly) http://identifiers.org/clinvar/15175 ^@ NM_000518.4(HBB):c.20A>C (p.Glu7Ala) http://identifiers.org/clinvar/15176 ^@ NM_000518.4(HBB):c.23A>G (p.Glu8Gly) http://identifiers.org/clinvar/15177 ^@ NM_000518.4(HBB):c.243C>A (p.Asn81Lys) http://identifiers.org/clinvar/15178 ^@ NM_000518.4(HBB):c.68A>G (p.Glu23Gly) http://identifiers.org/clinvar/15179 ^@ NM_000518.4(HBB):c.76G>C (p.Gly26Arg) http://identifiers.org/clinvar/15180 ^@ NM_000518.4(HBB):c.139G>A (p.Gly47Arg) http://identifiers.org/clinvar/15181 ^@ NM_000518.4(HBB):c.143A>G (p.Asp48Gly) http://identifiers.org/clinvar/15182 ^@ NM_000518.4(HBB):c.418A>G (p.Asn140Asp) http://identifiers.org/clinvar/15183 ^@ NM_000518.4(HBB):c.86T>C (p.Leu29Pro) http://identifiers.org/clinvar/15184 ^@ NM_000518.4(HBB):c.83C>T (p.Ala28Val) http://identifiers.org/clinvar/15185 ^@ NM_000518.4(HBB):c.274_288delCTGCACTGTGACAAG (p.Cys94_His98del) http://identifiers.org/clinvar/15186 ^@ NM_000518.4(HBB):c.382C>G (p.Gln128Glu) http://identifiers.org/clinvar/15187 ^@ NP_000509.1:p.His117Gln http://identifiers.org/clinvar/15188 ^@ NM_000518.4(HBB):c.169G>C (p.Gly57Arg) http://identifiers.org/clinvar/15189 ^@ NM_000518.4(HBB):c.34G>A (p.Val12Ile) http://identifiers.org/clinvar/15190 ^@ NM_000518.4(HBB):c.128T>C (p.Phe43Ser) http://identifiers.org/clinvar/15191 ^@ NM_000518.4(HBB):c.115A>C (p.Thr39Pro) http://identifiers.org/clinvar/15192 ^@ NM_000518.4(HBB):c.312C>G (p.Phe104Leu) http://identifiers.org/clinvar/15193 ^@ NM_000518.4(HBB):c.248A>T (p.Lys83Met) http://identifiers.org/clinvar/15194 ^@ NM_000518.4(HBB):c.80A>T (p.Glu27Val) http://identifiers.org/clinvar/15195 ^@ NM_000518.4(HBB):c.361A>G (p.Lys121Glu) http://identifiers.org/clinvar/15196 ^@ NM_000518.4(HBB):c.186G>C (p.Lys62Asn) http://identifiers.org/clinvar/15197 ^@ NM_000518.4(HBB):c.422C>A (p.Ala141Asp) http://identifiers.org/clinvar/15198 ^@ NM_000518.4(HBB):c.420T>A (p.Asn140Lys) http://identifiers.org/clinvar/15199 ^@ NM_000518.4(HBB):c.113G>C (p.Trp38Ser) http://identifiers.org/clinvar/15200 ^@ NM_000518.4(HBB):c.439C>G (p.His147Asp) http://identifiers.org/clinvar/15201 ^@ NM_000518.4(HBB):c.380T>A (p.Val127Glu) http://identifiers.org/clinvar/15202 ^@ NM_000518.4(HBB):c.410G>A (p.Gly137Asp) http://identifiers.org/clinvar/15203 ^@ NM_000518.4(HBB):c.130G>C (p.Glu44Gln) http://identifiers.org/clinvar/15204 ^@ NM_000518.4(HBB):c.299A>G (p.Asp100Gly) http://identifiers.org/clinvar/15205 ^@ NM_000518.4(HBB):c.178A>G (p.Lys60Glu) http://identifiers.org/clinvar/15206 ^@ NM_000518.4(HBB):c.199A>G (p.Lys67Glu) http://identifiers.org/clinvar/15207 ^@ NM_000518.4(HBB):c.337T>C (p.Cys113Arg) http://identifiers.org/clinvar/15208 ^@ NP_000509.1:p.His93Gln http://identifiers.org/clinvar/15209 ^@ NM_000518.4(HBB):c.277C>G (p.His93Asp) http://identifiers.org/clinvar/15210 ^@ NM_000518.4(HBB):c.54G>C (p.Lys18Asn) http://identifiers.org/clinvar/15211 ^@ NM_000518.4(HBB):c.197A>T (p.Lys66Met) http://identifiers.org/clinvar/15212 ^@ NM_000518.4(HBB):c.77G>A (p.Gly26Asp) http://identifiers.org/clinvar/15213 ^@ NM_000518.4(HBB):c.50G>A (p.Gly17Asp) http://identifiers.org/clinvar/15214 ^@ NM_000518.4(HBB):c.170G>A (p.Gly57Asp) http://identifiers.org/clinvar/15215 ^@ NM_000518.4(HBB):c.196A>C (p.Lys66Gln) http://identifiers.org/clinvar/15216 ^@ NM_000518.4(HBB):c.194G>A (p.Gly65Asp) http://identifiers.org/clinvar/15217 ^@ NM_000518.4(HBB):c.230C>A (p.Ala77Asp) http://identifiers.org/clinvar/15218 ^@ NM_000518.4(HBB):c.287A>T (p.Lys96Met) http://identifiers.org/clinvar/15219 ^@ NM_000518.4(HBB):c.172A>G (p.Asn58Asp) http://identifiers.org/clinvar/15220 ^@ NM_000518.4(HBB):c.386C>A (p.Ala129Asp) http://identifiers.org/clinvar/15221 ^@ NM_000518.4(HBB):c.232C>G (p.His78Asp) http://identifiers.org/clinvar/15222 ^@ NM_000518.4(HBB):c.179A>C (p.Lys60Thr) http://identifiers.org/clinvar/15223 ^@ NM_000518.4(HBB):c.41C>A (p.Ala14Asp) http://identifiers.org/clinvar/15224 ^@ NM_000518.4(HBB):c.180G>C (p.Lys60Asn) http://identifiers.org/clinvar/15225 ^@ NM_000518.4(HBB):c.25A>C (p.Lys9Gln) http://identifiers.org/clinvar/15226 ^@ NM_000518.4(HBB):c.209G>A (p.Gly70Asp) http://identifiers.org/clinvar/15227 ^@ NM_000518.4(HBB):c.198G>C (p.Lys66Asn) http://identifiers.org/clinvar/15228 ^@ NM_000518.4(HBB):c.389C>A (p.Ala130Asp) http://identifiers.org/clinvar/15229 ^@ NM_000518.4(HBB):c.362A>T (p.Lys121Ile) http://identifiers.org/clinvar/15230 ^@ NM_000518.4(HBB):c.328G>C (p.Val110Leu) http://identifiers.org/clinvar/15232 ^@ NM_000518.4(HBB):c.140G>A (p.Gly47Glu) http://identifiers.org/clinvar/15233 ^@ NM_000518.4(HBB):c.397A>C (p.Lys133Gln) http://identifiers.org/clinvar/15234 ^@ NM_000518.4(HBB):c.92G>C (p.Arg31Thr) http://identifiers.org/clinvar/15235 ^@ NM_000518.4(HBB):c.308A>C (p.Asn103Thr) http://identifiers.org/clinvar/15236 ^@ NM_000518.4(HBB):c.298G>A (p.Asp100Asn) http://identifiers.org/clinvar/15237 ^@ NM_000518.4(HBB):c.208G>C (p.Gly70Arg) http://identifiers.org/clinvar/15238 ^@ NM_000518.4(HBB):c.374C>G (p.Pro125Arg) http://identifiers.org/clinvar/15239 ^@ NM_000518.4(HBB):c.82G>T (p.Ala28Ser) http://identifiers.org/clinvar/15240 ^@ NM_000518.4(HBB):c.254C>T (p.Thr85Ile) http://identifiers.org/clinvar/15241 ^@ NM_000518.4(HBB):c.295G>A (p.Val99Met) http://identifiers.org/clinvar/15242 ^@ HBB, 15-BP INS http://identifiers.org/clinvar/15243 ^@ NM_000518.4(HBB):c.19G>C (p.Glu7Gln) http://identifiers.org/clinvar/15244 ^@ NM_000518.4(HBB):c.220G>A (p.Asp74Asn) http://identifiers.org/clinvar/15245 ^@ NM_000518.4(HBB):c.389C>T (p.Ala130Val) http://identifiers.org/clinvar/15246 ^@ NM_000518.4(HBB):c.149C>T (p.Ser50Phe) http://identifiers.org/clinvar/15247 ^@ NM_000518.4(HBB):c.22_24delGAG (p.Glu8del) http://identifiers.org/clinvar/15248 ^@ HBB, HBB/HBD FUSION, HBD137DEL http://identifiers.org/clinvar/15249 ^@ NM_000518.4(HBB):c.109C>A (p.Pro37Thr) http://identifiers.org/clinvar/15250 ^@ HBB, HIS143GLN http://identifiers.org/clinvar/15251 ^@ NM_000518.4(HBB):c.127T>C (p.Phe43Leu) http://identifiers.org/clinvar/15252 ^@ NM_000518.4(HBB):c.89G>A (p.Gly30Asp) http://identifiers.org/clinvar/15253 ^@ NM_000518.4(HBB):c.52_57delAAGGTG (p.Lys18_Val19del) http://identifiers.org/clinvar/15254 ^@ NM_000518.4(HBB):c.203T>A (p.Val68Glu) http://identifiers.org/clinvar/15255 ^@ NM_000518.4(HBB):c.277C>T (p.His93Tyr) http://identifiers.org/clinvar/15256 ^@ NM_000518.4(HBB):c.190C>T (p.His64Tyr) http://identifiers.org/clinvar/15257 ^@ NM_000518.4(HBB):c.346G>C (p.Ala116Pro) http://identifiers.org/clinvar/15258 ^@ NM_000518.4(HBB):c.59A>G (p.Asn20Ser) http://identifiers.org/clinvar/15259 ^@ NP_000509.1:p.His98Gln http://identifiers.org/clinvar/15260 ^@ NM_000518.4(HBB):c.142G>T (p.Asp48Tyr) http://identifiers.org/clinvar/15261 ^@ NM_000518.4(HBB):c.8A>C (p.His3Pro) http://identifiers.org/clinvar/15263 ^@ NM_000518.4(HBB):c.167T>A (p.Met56Lys) http://identifiers.org/clinvar/15264 ^@ NM_000518.4(HBB):c.125T>A (p.Phe42Tyr) http://identifiers.org/clinvar/15265 ^@ NM_000518.4(HBB):c.438T>A (p.Tyr146Ter) http://identifiers.org/clinvar/15266 ^@ NM_000518.4(HBB):c.356T>A (p.Phe119Tyr) http://identifiers.org/clinvar/15267 ^@ NM_000518.4(HBB):c.134C>G (p.Ser45Cys) http://identifiers.org/clinvar/15268 ^@ NM_000518.4(HBB):c.433A>G (p.Lys145Glu) http://identifiers.org/clinvar/15269 ^@ HBB, HBB/HBD FUSION http://identifiers.org/clinvar/15270 ^@ NM_000518.4(HBB):c.71T>G (p.Val24Gly) http://identifiers.org/clinvar/15271 ^@ NM_000518.4(HBB):c.206T>C (p.Leu69Pro) http://identifiers.org/clinvar/15272 ^@ HBB, PHE83SER http://identifiers.org/clinvar/15273 ^@ NM_000518.4(HBB):c.221A>T (p.Asp74Val) http://identifiers.org/clinvar/15274 ^@ NM_000518.4(HBB):c.292C>T (p.His98Tyr) http://identifiers.org/clinvar/15275 ^@ NM_000518.4(HBB):c.74G>A (p.Gly25Asp) http://identifiers.org/clinvar/15276 ^@ NM_000518.4(HBB):c.278A>G (p.His93Arg) http://identifiers.org/clinvar/15277 ^@ HBB, LYS95ASP http://identifiers.org/clinvar/15278 ^@ NM_000518.4(HBB):c.286A>G (p.Lys96Glu) http://identifiers.org/clinvar/15279 ^@ HBB, LYS95GLX http://identifiers.org/clinvar/15280 ^@ NM_000518.4(HBB):c.184A>G (p.Lys62Glu) http://identifiers.org/clinvar/15281 ^@ NM_000518.4(HBB):c.25A>G (p.Lys9Glu) http://identifiers.org/clinvar/15282 ^@ HBB, LYS17GLU http://identifiers.org/clinvar/15283 ^@ NM_000518.4(HBB):c.293A>C (p.His98Pro) http://identifiers.org/clinvar/15284 ^@ NM_000518.4(HBB):c.392A>C (p.Tyr131Ser) http://identifiers.org/clinvar/15285 ^@ NM_000518.4(HBB):c.302C>G (p.Pro101Arg) http://identifiers.org/clinvar/15286 ^@ NM_000518.4(HBB):c.341T>A (p.Val114Glu) http://identifiers.org/clinvar/15287 ^@ NM_000518.4(HBB):c.278A>C (p.His93Pro) http://identifiers.org/clinvar/15288 ^@ NM_000518.4(HBB):c.130_138delGAGTCCTTT (p.Glu44_Phe46del) http://identifiers.org/clinvar/15289 ^@ NM_000518.4(HBB):c.109C>T (p.Pro37Ser) http://identifiers.org/clinvar/15290 ^@ NM_000518.4(HBB):c.404T>A (p.Val135Glu) http://identifiers.org/clinvar/15291 ^@ NM_000518.4(HBB):c.296T>G (p.Val99Gly) http://identifiers.org/clinvar/15292 ^@ NM_000518.4(HBB):c.364G>A (p.Glu122Lys) http://identifiers.org/clinvar/15293 ^@ NM_000518.4(HBB):c.158A>C (p.Asp53Ala) http://identifiers.org/clinvar/15294 ^@ NM_000518.4(HBB):c.428C>A (p.Ala143Asp) http://identifiers.org/clinvar/15295 ^@ NM_000518.4(HBB):c.146T>G (p.Leu49Arg) http://identifiers.org/clinvar/15296 ^@ NM_000518.4(HBB):c.9T>A (p.His3Gln) http://identifiers.org/clinvar/15297 ^@ NM_000518.4(HBB):c.280T>C (p.Cys94Arg) http://identifiers.org/clinvar/15298 ^@ NM_000518.4(HBB):c.425T>G (p.Leu142Arg) http://identifiers.org/clinvar/15299 ^@ NM_000518.4(HBB):c.260C>A (p.Ala87Asp) http://identifiers.org/clinvar/15300 ^@ NM_000518.4(HBB):c.61G>A (p.Val21Met) http://identifiers.org/clinvar/15301 ^@ HBB, TYR145ASN-TO-ASP http://identifiers.org/clinvar/15302 ^@ NM_000518.4(HBB):c.157G>A (p.Asp53Asn) http://identifiers.org/clinvar/15303 ^@ NM_000518.4(HBB):c.350A>G (p.His117Arg) http://identifiers.org/clinvar/15304 ^@ HBB, HBB/HBD FUSION http://identifiers.org/clinvar/15305 ^@ HBB, HBB/HBD FUSION http://identifiers.org/clinvar/15306 ^@ NM_000518.4(HBB):c.70G>T (p.Val24Phe) http://identifiers.org/clinvar/15307 ^@ NM_000518.4(HBB):c.227T>G (p.Leu76Arg) http://identifiers.org/clinvar/15308 ^@ NM_000518.4(HBB):c.98T>C (p.Leu33Pro) http://identifiers.org/clinvar/15309 ^@ NM_000518.4(HBB):c.334G>T (p.Val112Phe) http://identifiers.org/clinvar/15310 ^@ NM_000518.4(HBB):c.107A>T (p.Tyr36Phe) http://identifiers.org/clinvar/15311 ^@ NM_000518.4(HBB):c.273G>C (p.Glu91Asp) http://identifiers.org/clinvar/15312 ^@ NM_000518.4(HBB):c.103G>T (p.Val35Phe) http://identifiers.org/clinvar/15314 ^@ NM_000518.4(HBB):c.236T>G (p.Leu79Arg) http://identifiers.org/clinvar/15315 ^@ NM_000518.4(HBB):c.299A>C (p.Asp100Ala) http://identifiers.org/clinvar/15316 ^@ NM_000518.4(HBB):c.29C>G (p.Ser10Cys) http://identifiers.org/clinvar/15317 ^@ NM_000518.4(HBB):c.306G>C (p.Glu102Asp) http://identifiers.org/clinvar/15318 ^@ NP_000509.1:p.Asn109Lys http://identifiers.org/clinvar/15319 ^@ NM_000518.4(HBB):c.249G>Y (p.Lys83Asn) http://identifiers.org/clinvar/15320 ^@ NM_000518.4(HBB):c.251G>A (p.Gly84Asp) http://identifiers.org/clinvar/15321 ^@ NM_000518.4(HBB):c.248A>C (p.Lys83Thr) http://identifiers.org/clinvar/15322 ^@ NM_000518.4(HBB):c.437A>G (p.Tyr146Cys) http://identifiers.org/clinvar/15323 ^@ NM_000518.4(HBB):c.5T>C (p.Val2Ala) http://identifiers.org/clinvar/15324 ^@ NM_000518.4(HBB):c.46T>G (p.Trp16Gly) http://identifiers.org/clinvar/15325 ^@ NM_000518.4(HBB):c.289C>G (p.Leu97Val) http://identifiers.org/clinvar/15326 ^@ HBB, ASN102LYS http://identifiers.org/clinvar/15327 ^@ NM_000518.4(HBB):c.26A>C (p.Lys9Thr) http://identifiers.org/clinvar/15328 ^@ NM_000518.4(HBB):c.73G>C (p.Gly25Arg) http://identifiers.org/clinvar/15329 ^@ NM_000518.4(HBB):c.363A>C (p.Lys121Asn) http://identifiers.org/clinvar/15330 ^@ NM_000518.4(HBB):c.272A>G (p.Glu91Gly) http://identifiers.org/clinvar/15331 ^@ NM_000518.4(HBB):c.112T>A (p.Trp38Arg) http://identifiers.org/clinvar/15332 ^@ NM_000518.4(HBB):c.304G>C (p.Glu102Gln) http://identifiers.org/clinvar/15333 ^@ NM_000518.4(HBB):c.20A>T (p.Glu7Val) http://identifiers.org/clinvar/15338 ^@ NM_000518.4(HBB):c.275T>C (p.Leu92Pro) http://identifiers.org/clinvar/15339 ^@ NM_000518.4(HBB):c.421G>A (p.Ala141Thr) http://identifiers.org/clinvar/15340 ^@ NM_000518.4(HBB):c.350A>C (p.His117Pro) http://identifiers.org/clinvar/15341 ^@ NM_000518.4(HBB):c.44T>C (p.Leu15Pro) http://identifiers.org/clinvar/15342 ^@ NM_000518.4(HBB):c.328G>A (p.Val110Met) http://identifiers.org/clinvar/15343 ^@ NM_000518.4(HBB):c.266T>C (p.Leu89Pro) http://identifiers.org/clinvar/15344 ^@ NM_000518.4(HBB):c.74G>T (p.Gly25Val) http://identifiers.org/clinvar/15345 ^@ NM_000518.4(HBB):c.431delA (p.His144Profs) http://identifiers.org/clinvar/15346 ^@ NM_000518.4(HBB):c.212C>A (p.Ala71Asp) http://identifiers.org/clinvar/15347 ^@ NM_000518.4(HBB):c.127T>G (p.Phe43Val) http://identifiers.org/clinvar/15348 ^@ NM_000518.4(HBB):c.395A>C (p.Gln132Pro) http://identifiers.org/clinvar/15349 ^@ NM_000518.4(HBB):c.394C>A (p.Gln132Lys) http://identifiers.org/clinvar/15350 ^@ NM_000518.4(HBB):c.224G>A (p.Gly75Asp) http://identifiers.org/clinvar/15351 ^@ NM_000518.4(HBB):c.314G>C (p.Arg105Thr) http://identifiers.org/clinvar/15352 ^@ NM_000518.4(HBB):c.332T>C (p.Leu111Pro) http://identifiers.org/clinvar/15353 ^@ NM_000518.4(HBB):c.22G>A (p.Glu8Lys) http://identifiers.org/clinvar/15354 ^@ NM_000518.4(HBB):c.307A>T (p.Asn103Tyr) http://identifiers.org/clinvar/15355 ^@ NM_000518.4(HBB):c.44T>G (p.Leu15Arg) http://identifiers.org/clinvar/15356 ^@ NM_000518.4(HBB):c.320T>C (p.Leu107Pro) http://identifiers.org/clinvar/15357 ^@ NM_000518.4(HBB):c.335T>C (p.Val112Ala) http://identifiers.org/clinvar/15358 ^@ NM_000518.4(HBB):c.71T>A (p.Val24Asp) http://identifiers.org/clinvar/15359 ^@ NM_000518.4(HBB):c.4G>A (p.Val2Met) http://identifiers.org/clinvar/15360 ^@ NM_000518.4(HBB):c.223_228delGGCCTG (p.Gly75_Leu76delGlyLeu) http://identifiers.org/clinvar/15361 ^@ NM_000518.4(HBB):c.86T>A (p.Leu29Gln) http://identifiers.org/clinvar/15362 ^@ NM_000518.4(HBB):c.157G>C (p.Asp53His) http://identifiers.org/clinvar/15363 ^@ NM_000518.4(HBB):c.110C>G (p.Pro37Arg) http://identifiers.org/clinvar/15364 ^@ NM_000518.4(HBB):c.203T>C (p.Val68Ala) http://identifiers.org/clinvar/15365 ^@ NM_000518.4(HBB):c.431A>C (p.His144Pro) http://identifiers.org/clinvar/15367 ^@ NM_000518.4(HBB):c.250G>T (p.Gly84Cys) http://identifiers.org/clinvar/15368 ^@ NM_000518.4(HBB):c.93G>T (p.Arg31Ser) http://identifiers.org/clinvar/15369 ^@ NM_000518.4(HBB):c.439_440dupCA (p.Ter148Thrfs) http://identifiers.org/clinvar/15370 ^@ NM_000518.4(HBB):c.361A>C (p.Lys121Gln) http://identifiers.org/clinvar/15371 ^@ NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) http://identifiers.org/clinvar/15372 ^@ NM_000518.4(HBB):c.119A>G (p.Gln40Arg) http://identifiers.org/clinvar/15373 ^@ NM_000518.4(HBB):c.221A>G (p.Asp74Gly) http://identifiers.org/clinvar/15374 ^@ NM_000518.4(HBB):c.169_180delGGCAACCCTAAG (p.Gly57_Lys60del) http://identifiers.org/clinvar/15375 ^@ NM_000518.4(HBB):c.262_264delACA (p.Thr88del) http://identifiers.org/clinvar/15376 ^@ NM_000518.4(HBB):c.427G>C (p.Ala143Pro) http://identifiers.org/clinvar/15377 ^@ NM_000518.4(HBB):c.155C>G (p.Pro52Arg) http://identifiers.org/clinvar/15378 ^@ NM_000518.4(HBB):c.320T>A (p.Leu107Gln) http://identifiers.org/clinvar/15379 ^@ NM_000518.4(HBB):c.373C>T (p.Pro125Ser) http://identifiers.org/clinvar/15380 ^@ NM_000518.4(HBB):c.374C>A (p.Pro125Gln) http://identifiers.org/clinvar/15381 ^@ HBB, GLN39GLU http://identifiers.org/clinvar/15382 ^@ NM_000518.4(HBB):c.220G>T (p.Asp74Tyr) http://identifiers.org/clinvar/15383 ^@ NM_000518.4(HBB):c.268A>C (p.Ser90Arg) http://identifiers.org/clinvar/15384 ^@ NM_000518.4(HBB):c.226_228delCTG (p.Leu76del) http://identifiers.org/clinvar/15385 ^@ NM_000518.4(HBB):c.371C>T (p.Thr124Ile) http://identifiers.org/clinvar/15386 ^@ NM_000518.4(HBB):c.83C>A (p.Ala28Asp) http://identifiers.org/clinvar/15387 ^@ NM_000518.4(HBB):c.17C>G (p.Pro6Arg) http://identifiers.org/clinvar/15388 ^@ NM_000518.4(HBB):c.391T>G (p.Tyr131Asp) http://identifiers.org/clinvar/15389 ^@ NM_000518.4(HBB):c.35T>A (p.Val12Asp) http://identifiers.org/clinvar/15390 ^@ NM_000518.4(HBB):c.293A>T (p.His98Leu) http://identifiers.org/clinvar/15391 ^@ NM_000518.4(HBB):c.298G>C (p.Asp100His) http://identifiers.org/clinvar/15392 ^@ NM_000518.4(HBB):c.399A>Y (p.Lys132Asn) http://identifiers.org/clinvar/15393 ^@ NM_000518.4(HBB):c.181G>C (p.Val61Leu) http://identifiers.org/clinvar/15394 ^@ NM_000518.4(HBB):c.95T>C (p.Leu32Pro) http://identifiers.org/clinvar/15395 ^@ NM_000518.4(HBB):c.440A>C (p.His147Pro) http://identifiers.org/clinvar/15396 ^@ NM_000518.4(HBB):c.325A>G (p.Asn109Asp) http://identifiers.org/clinvar/15397 ^@ NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) http://identifiers.org/clinvar/15398 ^@ NM_000518.4(HBB):c.176C>G (p.Pro59Arg) http://identifiers.org/clinvar/15399 ^@ NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) http://identifiers.org/clinvar/15400 ^@ NM_000518.4(HBB):c.191A>G (p.His64Arg) http://identifiers.org/clinvar/15401 ^@ NM_000518.4(HBB):c.52A>T (p.Lys18Ter) http://identifiers.org/clinvar/15402 ^@ NM_000518.4(HBB):c.118C>T (p.Gln40Ter) http://identifiers.org/clinvar/15403 ^@ NM_000518.4(HBB):c.47G>A (p.Trp16Ter) http://identifiers.org/clinvar/15404 ^@ NM_000518.4(HBB):c.364G>T (p.Glu122Ter) http://identifiers.org/clinvar/15405 ^@ NM_000518.4(HBB):c.114G>A (p.Trp38Ter) http://identifiers.org/clinvar/15406 ^@ NM_000518.4(HBB):c.130G>T (p.Glu44Ter) http://identifiers.org/clinvar/15407 ^@ NM_000518.4(HBB):c.184A>T (p.Lys62Ter) http://identifiers.org/clinvar/15408 ^@ NM_000518.4(HBB):c.108C>A (p.Tyr36Ter) http://identifiers.org/clinvar/15409 ^@ NM_000518.4(HBB):c.383A>C (p.Gln128Pro) http://identifiers.org/clinvar/15410 ^@ NM_000518.4(HBB):c.383_385delAGG (p.Gln128_Ala129delinsPro) http://identifiers.org/clinvar/15411 ^@ NM_000518.4(HBB):c.182T>A (p.Val61Glu) http://identifiers.org/clinvar/15412 ^@ NM_000518.4(HBB):c.322dupG (p.Asn109Glnfs) http://identifiers.org/clinvar/15413 ^@ NM_000518.4(HBB):c.25_26delAA (p.Lys9Valfs) http://identifiers.org/clinvar/15414 ^@ NM_000518.4(HBB):c.51delC (p.Lys18Argfs) http://identifiers.org/clinvar/15415 ^@ NM_000518.4(HBB):c.135delC (p.Phe46Leufs) http://identifiers.org/clinvar/15417 ^@ NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) http://identifiers.org/clinvar/15418 ^@ NM_000518.4(HBB):c.20delA (p.Glu7Glyfs) http://identifiers.org/clinvar/15419 ^@ NM_000518.4(HBB):c.217dupA (p.Ser73Lysfs) http://identifiers.org/clinvar/15420 ^@ NM_000518.4(HBB):c.230delC (p.Ala77Valfs) http://identifiers.org/clinvar/15422 ^@ NM_000518.4(HBB):c.17_18delCT (p.Pro6Argfs) http://identifiers.org/clinvar/15423 ^@ NM_000518.4(HBB):c.36delT (p.Thr13Leufs) http://identifiers.org/clinvar/15424 ^@ NM_000518.4(HBB):c.108delC (p.Pro37Leufs) http://identifiers.org/clinvar/15425 ^@ NM_000518.4(HBB):c.343_344delCTinsG (p.Leu115Glyfs) http://identifiers.org/clinvar/15426 ^@ NM_000518.4(HBB):c.45dupG (p.Trp16Valfs) http://identifiers.org/clinvar/15427 ^@ NM_000518.4(HBB):c.114_120delGACCCAG (p.Trp38Terfs) http://identifiers.org/clinvar/15428 ^@ NM_000518.4(HBB):c.283_284insTG (p.Asp95Valfs) http://identifiers.org/clinvar/15429 ^@ NM_000518.4(HBB):c.193delG (p.Gly65Alafs) http://identifiers.org/clinvar/15430 ^@ NM_000518.4(HBB):c.328delG (p.Val110Cysfs) http://identifiers.org/clinvar/15431 ^@ NM_000518.4(HBB):c.112delT (p.Trp38Glyfs) http://identifiers.org/clinvar/15432 ^@ NM_000518.4(HBB):c.85dupC (p.Leu29Profs) http://identifiers.org/clinvar/15433 ^@ NM_000518.4(HBB):c.216dupT (p.Ser73Terfs) http://identifiers.org/clinvar/15434 ^@ NM_000518.4(HBB):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/15436 ^@ NM_000518.4(HBB):c.92+1G>A http://identifiers.org/clinvar/15437 ^@ NM_000518.4(HBB):c.92+1G>T http://identifiers.org/clinvar/15438 ^@ NM_000518.4(HBB):c.315+1G>A http://identifiers.org/clinvar/15439 ^@ HBB, IVS1, T-G, +2 http://identifiers.org/clinvar/15440 ^@ HBB, IVS2, T-C, +2 http://identifiers.org/clinvar/15441 ^@ NM_000518.4(HBB):c.93-17_93-1del17 http://identifiers.org/clinvar/15442 ^@ NM_000518.4(HBB):c.93-22_95del25 http://identifiers.org/clinvar/15443 ^@ HBB, IVS2, A-G, -2 http://identifiers.org/clinvar/15444 ^@ HBB, IVS2, A-C, -2 http://identifiers.org/clinvar/15445 ^@ NM_000518.4(HBB):c.76_92+27del44 http://identifiers.org/clinvar/15446 ^@ NM_000518.4(HBB):c.93-1G>A http://identifiers.org/clinvar/15447 ^@ NM_000518.4(HBB):c.92+5G>C http://identifiers.org/clinvar/15448 ^@ NM_000518.4(HBB):c.92+5G>T http://identifiers.org/clinvar/15449 ^@ NM_000518.4(HBB):c.92+5G>A http://identifiers.org/clinvar/15450 ^@ NM_000518.4(HBB):c.92+6T>C http://identifiers.org/clinvar/15451 ^@ NM_000518.4(HBB):c.316-3C>A http://identifiers.org/clinvar/15452 ^@ HBB, IVS1, T-G, -3 http://identifiers.org/clinvar/15453 ^@ HBB, IVS1, C-A, -8 http://identifiers.org/clinvar/15454 ^@ NM_000518.4(HBB):c.93-21G>A http://identifiers.org/clinvar/15455 ^@ HBB, IVS1, T-G, +16 http://identifiers.org/clinvar/15456 ^@ HBB, IVS2, T-G, +705 http://identifiers.org/clinvar/15457 ^@ NM_000518.4(HBB):c.316-106C>G http://identifiers.org/clinvar/15458 ^@ NM_000518.4(HBB):c.316-197C>T http://identifiers.org/clinvar/15459 ^@ NM_000518.4(HBB):c.75T>A (p.Gly25=) http://identifiers.org/clinvar/15460 ^@ NM_000518.4(HBB):c.-50-88C>T http://identifiers.org/clinvar/15461 ^@ NM_000518.4(HBB):c.-50-101C>T http://identifiers.org/clinvar/15462 ^@ NM_000518.4(HBB):c.-50-92C>T http://identifiers.org/clinvar/15463 ^@ HBB, -88C-A http://identifiers.org/clinvar/15464 ^@ NM_000518.4(HBB):c.-137C>G http://identifiers.org/clinvar/15465 ^@ NM_000518.4(HBB):c.-136C>G http://identifiers.org/clinvar/15466 ^@ NM_000518.4(HBB):c.-81A>G http://identifiers.org/clinvar/15467 ^@ NM_000518.4(HBB):c.-80T>A http://identifiers.org/clinvar/15468 ^@ HBB, -30T-C http://identifiers.org/clinvar/15469 ^@ NM_000518.4(HBB):c.-50-29A>G http://identifiers.org/clinvar/15470 ^@ NM_000518.4(HBB):c.-78A>C http://identifiers.org/clinvar/15471 ^@ NM_000518.4(HBB):c.-78A>G http://identifiers.org/clinvar/15472 ^@ HBB, 3-UNT, T-C, +3 http://identifiers.org/clinvar/15473 ^@ NM_000518.4(HBB):c.*113A>G http://identifiers.org/clinvar/15474 ^@ HBB, 3-UNT, A DEL, +4 http://identifiers.org/clinvar/15475 ^@ HBB, 3-UNT, G INS, +4 http://identifiers.org/clinvar/15476 ^@ NM_000518.4(HBB):c.*112A>G http://identifiers.org/clinvar/15477 ^@ HBB, CAP, A-C http://identifiers.org/clinvar/15478 ^@ NM_000518.4(HBB):c.425_433delTGGCCCACA (p.Leu142_Lys145delinsGln) http://identifiers.org/clinvar/15479 ^@ NM_000518.4(HBB):c.293_295delACG (p.His98_Val99delinsLeu) http://identifiers.org/clinvar/15480 ^@ NM_000518.4(HBB):c.316C>T (p.Leu106Phe) http://identifiers.org/clinvar/15481 ^@ HBB, IVS1, T-A, +2 http://identifiers.org/clinvar/15482 ^@ NM_000518.4(HBB):c.229G>C (p.Ala77Pro) http://identifiers.org/clinvar/15483 ^@ NM_000518.4(HBB):c.380T>G (p.Val127Gly) http://identifiers.org/clinvar/15484 ^@ NM_000518.4(HBB):c.359G>C (p.Gly120Ala) http://identifiers.org/clinvar/15485 ^@ NM_000518.4(HBB):c.143dupA (p.Asp48Glufs) http://identifiers.org/clinvar/15486 ^@ NM_000518.4(HBB):c.343C>A (p.Leu115Met) http://identifiers.org/clinvar/15487 ^@ NM_000518.4(HBB):c.320T>G (p.Leu107Arg) http://identifiers.org/clinvar/15488 ^@ NM_000518.4(HBB):c.*111A>G http://identifiers.org/clinvar/15489 ^@ NM_000518.4(HBB):c.262A>C (p.Thr88Pro) http://identifiers.org/clinvar/15490 ^@ NM_000518.4(HBB):c.164T>A (p.Val55Asp) http://identifiers.org/clinvar/15491 ^@ NM_000518.4(HBB):c.86T>G (p.Leu29Arg) http://identifiers.org/clinvar/15492 ^@ NM_000518.4(HBB):c.-82C>A http://identifiers.org/clinvar/15493 ^@ NM_000518.4(HBB):c.263C>T (p.Thr88Ile) http://identifiers.org/clinvar/15494 ^@ NM_000518.4(HBB):c.277C>A (p.His93Asn) http://identifiers.org/clinvar/15495 ^@ NP_000509.1:p.Asp100Glu http://identifiers.org/clinvar/242779 ^@ NM_000518.4(HBB):c.154C>T (p.Pro52Ser) http://identifiers.org/clinvar/15498 ^@ NM_000518.4(HBB):c.441C>A (p.His147Gln) http://identifiers.org/clinvar/15499 ^@ HBB, 9-BP DEL AND 12-BP INS http://identifiers.org/clinvar/15500 ^@ HBB, LYS17GLN http://identifiers.org/clinvar/15501 ^@ NM_000518.4(HBB):c.365A>G (p.Glu122Gly) http://identifiers.org/clinvar/15502 ^@ NM_000518.4(HBB):c.338G>A (p.Cys113Tyr) http://identifiers.org/clinvar/15503 ^@ NM_000518.4(HBB):c.430C>G (p.His144Asp) http://identifiers.org/clinvar/15504 ^@ NM_000518.4(HBB):c.271G>T (p.Glu91Ter) http://identifiers.org/clinvar/15505 ^@ HBB, IVS2AS, -3, C-G http://identifiers.org/clinvar/15506 ^@ NM_000518.4(HBB):c.*110_*114delTAAAA http://identifiers.org/clinvar/15507 ^@ HBB, IVS1AS, G-C, -1 http://identifiers.org/clinvar/15508 ^@ NM_000518.4(HBB):c.4delG (p.Val2Cysfs) http://identifiers.org/clinvar/15509 ^@ NM_000518.4(HBB):c.94C>G (p.Leu32Val) http://identifiers.org/clinvar/15510 ^@ NM_000518.4(HBB):c.146T>C (p.Leu49Pro) http://identifiers.org/clinvar/15511 ^@ HBB, 1-BP DEL, -G, CODON 109 http://identifiers.org/clinvar/15512 ^@ HBB, IVS2, G-C, -1 http://identifiers.org/clinvar/15513 ^@ NM_000518.4(HBB):c.344T>C (p.Leu115Pro) http://identifiers.org/clinvar/15514 ^@ NM_000518.4(HBB):c.-140C>T http://identifiers.org/clinvar/15515 ^@ NM_000518.4(HBB):c.315+4_315+5delAG http://identifiers.org/clinvar/15517 ^@ NM_000518.4(HBB):c.55G>A (p.Val19Met) http://identifiers.org/clinvar/15518 ^@ NM_000518.4(HBB):c.8A>T (p.His3Leu) http://identifiers.org/clinvar/15519 ^@ NM_000518.4(HBB):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/15520 ^@ NM_000518.4(HBB):c.64G>C (p.Asp22His) http://identifiers.org/clinvar/15521 ^@ NM_000518.4(HBB):c.250G>C (p.Gly84Arg) http://identifiers.org/clinvar/15522 ^@ NM_000518.4(HBB):c.238G>C (p.Asp80His) http://identifiers.org/clinvar/15523 ^@ NM_000518.4(HBB):c.395A>G (p.Gln132Arg) http://identifiers.org/clinvar/15524 ^@ NM_000518.4(HBB):c.310T>A (p.Phe104Ile) http://identifiers.org/clinvar/15525 ^@ NM_000518.4(HBB):c.315G>C (p.Arg105Ser) http://identifiers.org/clinvar/15526 ^@ NM_000518.4(HBB):c.347C>A (p.Ala116Asp) http://identifiers.org/clinvar/15527 ^@ NM_000518.4(HBB):c.203T>G (p.Val68Gly) http://identifiers.org/clinvar/15528 ^@ NM_000518.4(HBB):c.269G>C (p.Ser90Thr) http://identifiers.org/clinvar/15529 ^@ NM_000518.4(HBB):c.112T>G (p.Trp38Gly) http://identifiers.org/clinvar/15530 ^@ NM_000518.4(HBB):c.125T>C (p.Phe42Ser) http://identifiers.org/clinvar/15531 ^@ NM_000518.4(HBB):c.407C>A (p.Ala136Asp) http://identifiers.org/clinvar/15532 ^@ NM_000518.4(HBB):c.100_102delGTG (p.Val35del) http://identifiers.org/clinvar/15533 ^@ NM_000518.4(HBB):c.98T>A (p.Leu33Gln) http://identifiers.org/clinvar/15534 ^@ NM_000518.4(HBB):c.365A>C (p.Glu122Ala) http://identifiers.org/clinvar/15535 ^@ NM_000518.4(HBB):c.34G>T (p.Val12Phe) http://identifiers.org/clinvar/15536 ^@ NM_000518.4(HBB):c.202G>A (p.Val68Met) http://identifiers.org/clinvar/15537 ^@ NM_000518.4(HBB):c.383A>G (p.Gln128Arg) http://identifiers.org/clinvar/15538 ^@ NM_000518.4(HBB):c.76_78delGGT (p.Gly26del) http://identifiers.org/clinvar/15539 ^@ NM_000518.4(HBB):c.62T>A (p.Val21Glu) http://identifiers.org/clinvar/15540 ^@ NM_000518.4(HBB):c.16C>T (p.Pro6Ser) http://identifiers.org/clinvar/15543 ^@ HBB, IVS2AS, G-A, -1 http://identifiers.org/clinvar/15544 ^@ HBB, LEU31ARG http://identifiers.org/clinvar/15545 ^@ NM_000518.4(HBB):c.422C>T (p.Ala141Val) http://identifiers.org/clinvar/15546 ^@ NM_000518.4(HBB):c.137T>G (p.Phe46Cys) http://identifiers.org/clinvar/15547 ^@ NM_000518.4(HBB):c.418A>T (p.Asn140Tyr) http://identifiers.org/clinvar/15548 ^@ NM_000518.4(HBB):c.26A>T (p.Lys9Met) http://identifiers.org/clinvar/15549 ^@ NM_000518.4(HBB):c.116C>A (p.Thr39Asn) http://identifiers.org/clinvar/15550 ^@ NM_000518.4(HBB):c.290T>C (p.Leu97Pro) http://identifiers.org/clinvar/15551 ^@ NM_000518.4(HBB):c.116_117delCC (p.Gln40Glufs) http://identifiers.org/clinvar/15552 ^@ NM_000518.4(HBB):c.247A>C (p.Lys83Gln) http://identifiers.org/clinvar/15553 ^@ NM_000518.4(HBB):c.188C>A (p.Ala63Asp) http://identifiers.org/clinvar/15554 ^@ NM_000518.4(HBB):c.80A>G (p.Glu27Gly) http://identifiers.org/clinvar/15555 ^@ NM_000518.4(HBB):c.93_94insCGG (p.Arg31_Leu32insArg) http://identifiers.org/clinvar/15556 ^@ NM_000518.4(HBB):c.233A>G (p.His78Arg) http://identifiers.org/clinvar/15557 ^@ HBB, 1-BP INS, CODON 20/21, FS http://identifiers.org/clinvar/15558 ^@ NM_000518.4(HBB):c.4G>T (p.Val2Leu) http://identifiers.org/clinvar/15559 ^@ NM_000518.4(HBB):c.158A>G (p.Asp53Gly) http://identifiers.org/clinvar/15560 ^@ NM_000518.4(HBB):c.217_221delAGTGAinsT (p.Ser73Leufs) http://identifiers.org/clinvar/15561 ^@ NM_000518.4(HBB):c.247A>G (p.Lys83Glu) http://identifiers.org/clinvar/15562 ^@ HBB, IVS1AS, A-G, -2 http://identifiers.org/clinvar/15563 ^@ NM_000518.4(HBB):c.79_80insT (p.Glu27Valfs) http://identifiers.org/clinvar/15564 ^@ NM_000518.4(HBB):c.396G>C (p.Gln132His) http://identifiers.org/clinvar/15565 ^@ NM_000518.4(HBB):c.430C>T (p.His144Tyr) http://identifiers.org/clinvar/15566 ^@ NM_000518.4(HBB):c.100G>A (p.Val34Met) http://identifiers.org/clinvar/15567 ^@ NM_000518.4(HBB):c.415_417delGCT (p.Ala139del) http://identifiers.org/clinvar/15568 ^@ NM_000518.4(HBB):c.85C>A (p.Leu29Met) http://identifiers.org/clinvar/15569 ^@ NM_000518.4(HBB):c.374C>T (p.Pro125Leu) http://identifiers.org/clinvar/15570 ^@ NM_000518.4(HBB):c.245T>A (p.Leu82His) http://identifiers.org/clinvar/15571 ^@ NM_000518.4(HBB):c.32C>T (p.Ala11Val) http://identifiers.org/clinvar/15572 ^@ NM_000518.4(HBB):c.26A>G (p.Lys9Arg) http://identifiers.org/clinvar/15573 ^@ NM_000518.4(HBB):c.419A>C (p.Asn140Thr) http://identifiers.org/clinvar/15574 ^@ NM_000518.4(HBB):c.356T>G (p.Phe119Cys) http://identifiers.org/clinvar/15575 ^@ NM_000518.4(HBB):c.109C>G (p.Pro37Ala) http://identifiers.org/clinvar/15576 ^@ NM_000518.4(HBB):c.434A>T (p.Lys145Met) http://identifiers.org/clinvar/15577 ^@ NM_000518.4(HBB):c.439C>T (p.His147Tyr) http://identifiers.org/clinvar/15578 ^@ NM_000518.4(HBB):c.110C>A (p.Pro37His) http://identifiers.org/clinvar/15579 ^@ NM_000518.4(HBB):c.253A>G (p.Thr85Ala) http://identifiers.org/clinvar/15580 ^@ NM_000518.4(HBB):c.367T>C (p.Phe123Leu) http://identifiers.org/clinvar/15582 ^@ NM_000518.4(HBB):c.349C>T (p.His117Tyr) http://identifiers.org/clinvar/15583 ^@ NM_000518.4(HBB):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/15584 ^@ NM_000518.4(HBB):c.371C>A (p.Thr124Asn) http://identifiers.org/clinvar/15585 ^@ NM_000518.4(HBB):c.401T>C (p.Val134Ala) http://identifiers.org/clinvar/15586 ^@ HBB, -101C-G http://identifiers.org/clinvar/15587 ^@ NM_000518.4(HBB):c.5T>G (p.Val2Gly) http://identifiers.org/clinvar/15588 ^@ NM_000518.4(HBB):c.404T>C (p.Val135Ala) http://identifiers.org/clinvar/15589 ^@ NM_000518.4(HBB):c.385G>C (p.Ala129Pro) http://identifiers.org/clinvar/15590 ^@ NM_000518.4(HBB):c.409G>C (p.Gly137Arg) http://identifiers.org/clinvar/15592 ^@ NM_000518.4(HBB):c.16delC (p.Pro6Leufs) http://identifiers.org/clinvar/15593 ^@ NM_000518.4(HBB):c.27G>C (p.Lys9Asn) http://identifiers.org/clinvar/15594 ^@ chr11:g.(LOH11A_HBB)del http://identifiers.org/clinvar/15595 ^@ NM_000518.4(HBB):c.338G>T (p.Cys113Phe) http://identifiers.org/clinvar/15597 ^@ NM_000518.4(HBB):c.379G>C (p.Val127Leu) http://identifiers.org/clinvar/15598 ^@ NM_000518.4(HBB):c.125T>G (p.Phe42Cys) http://identifiers.org/clinvar/15599 ^@ NM_000518.4(HBB):c.194G>C (p.Gly65Ala) http://identifiers.org/clinvar/15600 ^@ HBB, 1-BP DEL http://identifiers.org/clinvar/15601 ^@ NM_000518.4(HBB):c.441C>G (p.His147Gln) http://identifiers.org/clinvar/15602 ^@ NM_000518.4(HBB):c.149C>G (p.Ser50Cys) http://identifiers.org/clinvar/15603 ^@ NM_000518.4(HBB):c.184A>C (p.Lys62Gln) http://identifiers.org/clinvar/15604 ^@ NM_000518.4(HBB):c.434delA (p.Lys145Serfs) http://identifiers.org/clinvar/15605 ^@ NM_000518.4(HBB):c.104T>A (p.Val35Asp) http://identifiers.org/clinvar/15606 ^@ NM_000518.4(HBB):c.415G>A (p.Ala139Thr) http://identifiers.org/clinvar/15607 ^@ NM_000518.4(HBB):c.292C>A (p.His98Asn) http://identifiers.org/clinvar/15608 ^@ NM_000518.4(HBB):c.310T>G (p.Phe104Val) http://identifiers.org/clinvar/15609 ^@ NM_000518.4(HBB):c.385_388delGCTGinsCCACA (p.Ala129Profs) http://identifiers.org/clinvar/15611 ^@ NM_000518.4(HBB):c.259G>C (p.Ala87Pro) http://identifiers.org/clinvar/15613 ^@ NM_000518.4(HBB):c.205C>T (p.Leu69Phe) http://identifiers.org/clinvar/15614 ^@ NM_000518.4(HBB):c.80A>C (p.Glu27Ala) http://identifiers.org/clinvar/15615 ^@ NM_000518.4(HBB):c.88G>A (p.Gly30Ser) http://identifiers.org/clinvar/15616 ^@ HBB, 3-UNT, T-A, +3 http://identifiers.org/clinvar/242778 ^@ NM_000518.4(HBB):c.424C>G (p.Leu142Val) http://identifiers.org/clinvar/15618 ^@ NM_000518.4(HBB):c.71T>C (p.Val24Ala) http://identifiers.org/clinvar/15619 ^@ NM_000518.4(HBB):c.29C>A (p.Ser10Tyr) http://identifiers.org/clinvar/15620 ^@ NM_000518.4(HBB):c.283G>T (p.Asp95Tyr) http://identifiers.org/clinvar/15621 ^@ NM_000518.4(HBB):c.212C>T (p.Ala71Val) http://identifiers.org/clinvar/15622 ^@ NM_000518.4(HBB):c.116C>T (p.Thr39Ile) http://identifiers.org/clinvar/15624 ^@ NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) http://identifiers.org/clinvar/15625 ^@ NM_000517.4(HBA2):c.83A>T (p.Glu28Val) http://identifiers.org/clinvar/15626 ^@ NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) http://identifiers.org/clinvar/15627 ^@ NM_000517.4(HBA2):c.428A>C (p.Ter143Ser) http://identifiers.org/clinvar/15628 ^@ NM_000517.4(HBA2):c.266C>T (p.Ala89Val) http://identifiers.org/clinvar/15629 ^@ NM_000517.4(HBA2):c.420delA (p.Lys140Asnfs) http://identifiers.org/clinvar/15630 ^@ NM_000517.4(HBA2):c.377T>C (p.Leu126Pro) http://identifiers.org/clinvar/15631 ^@ NM_000517.4(HBA2):c.187G>A (p.Val63Met) http://identifiers.org/clinvar/15632 ^@ NM_000517.4(HBA2):c.329T>G (p.Leu110Arg) http://identifiers.org/clinvar/15633 ^@ NM_000517.4(HBA2):c.186G>C (p.Lys62Asn) http://identifiers.org/clinvar/15634 ^@ NM_000517.4(HBA2):c.47G>A (p.Gly16Asp) http://identifiers.org/clinvar/15635 ^@ NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) http://identifiers.org/clinvar/15636 ^@ NM_000517.4(HBA2):c.142G>C (p.Asp48His) http://identifiers.org/clinvar/15637 ^@ NM_000517.4(HBA2):c.146T>G (p.Leu49Arg) http://identifiers.org/clinvar/15638 ^@ NP_000508.1:p.Asn69Lys http://identifiers.org/clinvar/15639 ^@ NM_000517.4(HBA2):c.257A>T (p.Asp86Val) http://identifiers.org/clinvar/15640 ^@ NM_000517.4(HBA2):c.391G>C (p.Ala131Pro) http://identifiers.org/clinvar/15641 ^@ NM_000517.4(HBA2):c.19_21delGAC (p.Asp7del) http://identifiers.org/clinvar/15642 ^@ NM_000517.4(HBA2):c.235A>C (p.Asn79His) http://identifiers.org/clinvar/15643 ^@ NM_000517.4(HBA2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/15644 ^@ NM_000517.4(HBA2):c.349G>T (p.Glu117Ter) http://identifiers.org/clinvar/15645 ^@ NM_000517.4(HBA2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/15646 ^@ NM_000517.4(HBA2):c.418A>G (p.Lys140Glu) http://identifiers.org/clinvar/15647 ^@ NM_000517.4(HBA2):c.*92A>G http://identifiers.org/clinvar/15648 ^@ NM_000517.4(HBA2):c.142G>T (p.Asp48Tyr) http://identifiers.org/clinvar/15649 ^@ NM_000517.4(HBA2):c.272A>G (p.Lys91Arg) http://identifiers.org/clinvar/15650 ^@ NM_000517.4(HBA2):c.30C>G (p.Asn10Lys) http://identifiers.org/clinvar/15651 ^@ NM_000517.4(HBA2):c.89T>C (p.Leu30Pro) http://identifiers.org/clinvar/15652 ^@ NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) http://identifiers.org/clinvar/15653 ^@ NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) http://identifiers.org/clinvar/15654 ^@ NM_000517.4(HBA2):c.332C>T (p.Ala111Val) http://identifiers.org/clinvar/15655 ^@ NM_000517.4(HBA2):c.410T>C (p.Leu137Pro) http://identifiers.org/clinvar/15656 ^@ NM_000517.4(HBA2):c.314G>A (p.Cys105Tyr) http://identifiers.org/clinvar/15657 ^@ NM_000517.4(HBA2):c.118_124delACCAAGAinsTACTTC (p.Thr40Tyrfs) http://identifiers.org/clinvar/15658 ^@ NM_000517.4(HBA2):c.423C>A (p.Tyr141Ter) http://identifiers.org/clinvar/15659 ^@ NM_000517.4(HBA2):c.226_228delGAC (p.Asp76del) http://identifiers.org/clinvar/15660 ^@ NM_000517.4(HBA2):c.241C>G (p.Leu81Val) http://identifiers.org/clinvar/15661 ^@ NM_000517.4(HBA2):c.151C>G (p.His51Asp) http://identifiers.org/clinvar/15662 ^@ NM_000517.4(HBA2):c.379G>A (p.Asp127Asn) http://identifiers.org/clinvar/15663 ^@ NM_000517.4(HBA2):c.5T>G (p.Val2Gly) http://identifiers.org/clinvar/15664 ^@ NM_000517.4(HBA2):c.177C>A (p.His59Gln) http://identifiers.org/clinvar/15665 ^@ NM_000517.4(HBA2):c.233C>A (p.Pro78His) http://identifiers.org/clinvar/15666 ^@ NM_000517.4(HBA2):c.80C>T (p.Ala27Val) http://identifiers.org/clinvar/15667 ^@ NM_000517.4(HBA2):c.61C>G (p.His21Asp) http://identifiers.org/clinvar/15668 ^@ NM_000517.4(HBA2):c.301-1G>A http://identifiers.org/clinvar/15669 ^@ NM_000517.4(HBA2):c.200T>C (p.Leu67Pro) http://identifiers.org/clinvar/15670 ^@ NM_000517.4(HBA2):c.167T>C (p.Val56Ala) http://identifiers.org/clinvar/15671 ^@ NM_000517.4(HBA2):c.309C>A (p.Ser103Arg) http://identifiers.org/clinvar/15672 ^@ NM_000517.4(HBA2):c.217C>G (p.His73Asp) http://identifiers.org/clinvar/15673 ^@ NM_000517.4(HBA2):c.310C>T (p.His104Tyr) http://identifiers.org/clinvar/15674 ^@ NM_000517.4(HBA2):c.341T>G (p.Leu114Arg) http://identifiers.org/clinvar/15675 ^@ NM_000517.4(HBA2):c.286C>T (p.Pro96Ser) http://identifiers.org/clinvar/15676 ^@ NM_000517.4(HBA2):c.113C>T (p.Pro38Leu) http://identifiers.org/clinvar/15677 ^@ NM_000517.4(HBA2):c.91G>C (p.Glu31Gln) http://identifiers.org/clinvar/15678 ^@ NM_000517.4(HBA2):c.96G>Y (p.Arg32Ser) http://identifiers.org/clinvar/15679 ^@ NM_000517.4(HBA2):c.96-2A>G http://identifiers.org/clinvar/15680 ^@ HBA2, METHYLATION SILENCING DUE TO ANTISENSE TRANSCRIPT http://identifiers.org/clinvar/15681 ^@ NM_000517.4(HBA2):c.101T>C (p.Phe34Ser) http://identifiers.org/clinvar/15682 ^@ NM_000517.4(HBA2):c.420A>C (p.Lys140Asn) http://identifiers.org/clinvar/15683 ^@ NM_000517.4(HBA2):c.196G>A (p.Ala66Thr) http://identifiers.org/clinvar/15684 ^@ NM_000517.4(HBA2):c.208G>A (p.Ala70Thr) http://identifiers.org/clinvar/15685 ^@ NM_000517.4(HBA2):c.402C>A (p.Ser134Arg) http://identifiers.org/clinvar/15686 ^@ NM_000517.4(HBA2):c.70G>T (p.Glu24Ter) http://identifiers.org/clinvar/15687 ^@ NM_000517.4(HBA2):c.69C>T (p.Gly23=) http://identifiers.org/clinvar/15688 ^@ NM_000517.4(HBA2):c.178G>C (p.Gly60Arg) http://identifiers.org/clinvar/15689 ^@ NM_000517.4(HBA2):c.244T>C (p.Ser82Pro) http://identifiers.org/clinvar/15690 ^@ NM_000517.4(HBA2):c.377T>G (p.Leu126Arg) http://identifiers.org/clinvar/15691 ^@ NM_000517.4(HBA2):c.22A>G (p.Lys8Glu) http://identifiers.org/clinvar/15692 ^@ NM_000517.4(HBA2):c.2delT (p.Met1Argfs) http://identifiers.org/clinvar/15693 ^@ NM_000517.4(HBA2):c.227A>T (p.Asp76Val) http://identifiers.org/clinvar/15694 ^@ NM_000517.4(HBA2):c.1delA (p.Met1Trpfs) http://identifiers.org/clinvar/15695 ^@ NM_000558.4(HBA1):c.152A>G (p.His51Arg) http://identifiers.org/clinvar/15696 ^@ NM_000558.4(HBA1):c.36G>C (p.Lys12Asn) http://identifiers.org/clinvar/15697 ^@ NM_000558.4(HBA1):c.34A>G (p.Lys12Glu) http://identifiers.org/clinvar/15698 ^@ NM_000558.4(HBA1):c.242T>G (p.Leu81Arg) http://identifiers.org/clinvar/15699 ^@ NM_000558.3(HBA1):c.142G>A (p.Asp48Asn) http://identifiers.org/clinvar/15700 ^@ NM_000558.3(HBA1):c.256G>T (p.Asp86Tyr) http://identifiers.org/clinvar/15701 ^@ NM_000558.4(HBA1):c.415T>C (p.Ser139Pro) http://identifiers.org/clinvar/15702 ^@ NM_000558.3(HBA1):c.230T>C (p.Met77Thr) http://identifiers.org/clinvar/15703 ^@ NM_000558.4(HBA1):c.138C>G (p.His46Gln) http://identifiers.org/clinvar/15704 ^@ NM_000558.3(HBA1):c.51G>C (p.Lys17Asn) http://identifiers.org/clinvar/15706 ^@ NM_000558.3(HBA1):c.113C>G (p.Pro38Arg) http://identifiers.org/clinvar/15707 ^@ NM_000558.4(HBA1):c.273G>C (p.Lys91Asn) http://identifiers.org/clinvar/15708 ^@ NM_000558.3(HBA1):c.114_115insGAA (p.Pro38_Thr39insGlu) http://identifiers.org/clinvar/15709 ^@ NM_000558.3(HBA1):c.70G>A (p.Glu24Lys) http://identifiers.org/clinvar/15710 ^@ NM_000558.3(HBA1):c.224A>G (p.Asp75Gly) http://identifiers.org/clinvar/15711 ^@ NM_000558.3(HBA1):c.278G>T (p.Arg93Leu) http://identifiers.org/clinvar/15712 ^@ NM_000558.3(HBA1):c.344C>G (p.Pro115Arg) http://identifiers.org/clinvar/15713 ^@ NM_000558.4(HBA1):c.409C>A (p.Leu137Met) http://identifiers.org/clinvar/15714 ^@ NM_000558.4(HBA1):c.8T>G (p.Leu3Arg) http://identifiers.org/clinvar/15715 ^@ NM_000558.4(HBA1):c.311A>G (p.His104Arg) http://identifiers.org/clinvar/15716 ^@ NM_000558.3(HBA1):c.143A>C (p.Asp48Ala) http://identifiers.org/clinvar/15717 ^@ NM_000558.4(HBA1):c.181A>G (p.Lys61Glu) http://identifiers.org/clinvar/15718 ^@ HBA1, ASN97LYS http://identifiers.org/clinvar/15719 ^@ NM_000558.4(HBA1):c.218A>G (p.His73Arg) http://identifiers.org/clinvar/15720 ^@ NM_000558.3(HBA1):c.286C>G (p.Pro96Ala) http://identifiers.org/clinvar/15721 ^@ NM_000558.3(HBA1):c.227A>C (p.Asp76Ala) http://identifiers.org/clinvar/15722 ^@ NM_000558.3(HBA1):c.19G>A (p.Asp7Asn) http://identifiers.org/clinvar/15723 ^@ NM_000558.4(HBA1):c.253A>C (p.Ser85Arg) http://identifiers.org/clinvar/15724 ^@ NM_000558.4(HBA1):c.43T>Y http://identifiers.org/clinvar/15725 ^@ NM_000558.3(HBA1):c.20A>T (p.Asp7Val) http://identifiers.org/clinvar/15726 ^@ NM_000558.4(HBA1):c.64G>C (p.Ala22Pro) http://identifiers.org/clinvar/15727 ^@ NM_000558.3(HBA1):c.137A>G (p.His46Arg) http://identifiers.org/clinvar/15728 ^@ NM_000558.3(HBA1):c.71A>T (p.Glu24Val) http://identifiers.org/clinvar/15729 ^@ NM_000558.3(HBA1):c.83A>G (p.Glu28Gly) http://identifiers.org/clinvar/15730 ^@ NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) http://identifiers.org/clinvar/15731 ^@ NM_000558.3(HBA1):c.256G>A (p.Asp86Asn) http://identifiers.org/clinvar/15732 ^@ NM_000558.4(HBA1):c.223G>A (p.Asp75Asn) http://identifiers.org/clinvar/15733 ^@ NM_000558.4(HBA1):c.223G>C (p.Asp75His) http://identifiers.org/clinvar/15734 ^@ NM_000558.4(HBA1):c.193G>A (p.Asp65Asn) http://identifiers.org/clinvar/15735 ^@ NM_000558.3(HBA1):c.248C>A (p.Ala83Asp) http://identifiers.org/clinvar/15736 ^@ NM_000558.4(HBA1):c.55G>C (p.Gly19Arg) http://identifiers.org/clinvar/15737 ^@ HBA1, 3AA INS, 118THR-GLU-PHE119 http://identifiers.org/clinvar/15738 ^@ NM_000558.4(HBA1):c.194A>G (p.Asp65Gly) http://identifiers.org/clinvar/15739 ^@ NM_000558.3(HBA1):c.233C>G (p.Pro78Arg) http://identifiers.org/clinvar/15740 ^@ NM_000558.3(HBA1):c.272A>T (p.Lys91Met) http://identifiers.org/clinvar/15741 ^@ NM_000558.4(HBA1):c.50A>T (p.Lys17Met) http://identifiers.org/clinvar/15742 ^@ NM_000558.4(HBA1):c.84G>T (p.Glu28Asp) http://identifiers.org/clinvar/15743 ^@ HBA1, PHE43LEU http://identifiers.org/clinvar/15744 ^@ NM_000558.4(HBA1):c.62A>G (p.His21Arg) http://identifiers.org/clinvar/15745 ^@ NM_000558.4(HBA1):c.337C>G (p.His113Asp) http://identifiers.org/clinvar/15746 ^@ NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) http://identifiers.org/clinvar/15747 ^@ NM_000558.4(HBA1):c.263A>G (p.His88Arg) http://identifiers.org/clinvar/15748 ^@ NM_000558.4(HBA1):c.155G>A (p.Gly52Asp) http://identifiers.org/clinvar/15749 ^@ NM_000558.4(HBA1):c.185A>C (p.Lys62Thr) http://identifiers.org/clinvar/15750 ^@ NM_000558.4(HBA1):c.362C>A (p.Ala121Glu) http://identifiers.org/clinvar/15751 ^@ NM_000558.3(HBA1):c.424C>G (p.Arg142Gly) http://identifiers.org/clinvar/15752 ^@ NM_000558.3(HBA1):c.278G>A (p.Arg93Gln) http://identifiers.org/clinvar/15753 ^@ NM_000558.3(HBA1):c.424C>A (p.Arg142Ser) http://identifiers.org/clinvar/15754 ^@ NM_000558.4(HBA1):c.215C>A (p.Ala72Glu) http://identifiers.org/clinvar/15755 ^@ HBA1, ALA19ASP http://identifiers.org/clinvar/15756 ^@ NM_000558.4(HBA1):c.68G>A (p.Gly23Asp) http://identifiers.org/clinvar/15757 ^@ NM_000558.4(HBA1):c.65C>A (p.Ala22Asp) http://identifiers.org/clinvar/15758 ^@ NM_000558.4(HBA1):c.38C>A (p.Ala13Asp) http://identifiers.org/clinvar/15759 ^@ NM_000558.3(HBA1):c.272A>C (p.Lys91Thr) http://identifiers.org/clinvar/15760 ^@ NM_000558.4(HBA1):c.161C>A (p.Ala54Asp) http://identifiers.org/clinvar/15761 ^@ NM_000558.4(HBA1):c.235A>G (p.Asn79Asp) http://identifiers.org/clinvar/15763 ^@ NM_000558.4(HBA1):c.59C>A (p.Ala20Glu) http://identifiers.org/clinvar/15764 ^@ NM_000558.4(HBA1):c.347C>A (p.Ala116Asp) http://identifiers.org/clinvar/15765 ^@ NM_000558.4(HBA1):c.17C>A (p.Ala6Asp) http://identifiers.org/clinvar/15766 ^@ NM_000558.4(HBA1):c.384G>C (p.Lys128Asn) http://identifiers.org/clinvar/15767 ^@ NM_000558.4(HBA1):c.16G>C (p.Ala6Pro) http://identifiers.org/clinvar/15768 ^@ NM_000558.4(HBA1):c.121A>G (p.Lys41Glu) http://identifiers.org/clinvar/15769 ^@ NM_000558.3(HBA1):c.134C>G (p.Pro45Arg) http://identifiers.org/clinvar/15770 ^@ NM_000558.4(HBA1):c.424_426delCGT (p.Arg142del) http://identifiers.org/clinvar/15771 ^@ NM_000558.3(HBA1):c.143A>G (p.Asp48Gly) http://identifiers.org/clinvar/15772 ^@ NM_000558.4(HBA1):c.172G>C (p.Gly58Arg) http://identifiers.org/clinvar/15773 ^@ NM_000558.3(HBA1):c.425G>T (p.Arg142Leu) http://identifiers.org/clinvar/15774 ^@ HBA1, HIS20GLN http://identifiers.org/clinvar/15775 ^@ NM_000558.3(HBA1):c.224A>C (p.Asp75Ala) http://identifiers.org/clinvar/15776 ^@ NM_000558.4(HBA1):c.265G>T (p.Ala89Ser) http://identifiers.org/clinvar/15777 ^@ NM_000558.4(HBA1):c.73T>C (p.Tyr25His) http://identifiers.org/clinvar/15778 ^@ NM_000558.4(HBA1):c.175C>T (p.His59Tyr) http://identifiers.org/clinvar/15779 ^@ NM_000558.4(HBA1):c.262C>T (p.His88Tyr) http://identifiers.org/clinvar/15780 ^@ NM_000558.3(HBA1):c.226G>A (p.Asp76Asn) http://identifiers.org/clinvar/15781 ^@ NM_000558.3(HBA1):c.70G>C (p.Glu24Gln) http://identifiers.org/clinvar/15782 ^@ NM_000558.4(HBA1):c.163C>G (p.Gln55Glu) http://identifiers.org/clinvar/15783 ^@ NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) http://identifiers.org/clinvar/15784 ^@ NM_000558.4(HBA1):c.124A>T (p.Thr42Ser) http://identifiers.org/clinvar/15785 ^@ NM_000558.3(HBA1):c.227A>G (p.Asp76Gly) http://identifiers.org/clinvar/15786 ^@ NM_000558.4(HBA1):c.260T>G (p.Leu87Arg) http://identifiers.org/clinvar/15787 ^@ NM_000558.3(HBA1):c.61C>T (p.His21Tyr) http://identifiers.org/clinvar/15788 ^@ NM_000558.4(HBA1):c.245C>G (p.Ser82Cys) http://identifiers.org/clinvar/15789 ^@ NM_000558.3(HBA1):c.230T>A (p.Met77Lys) http://identifiers.org/clinvar/15790 ^@ NM_000558.4(HBA1):c.173G>A (p.Gly58Asp) http://identifiers.org/clinvar/15791 ^@ NM_000558.3(HBA1):c.344C>T (p.Pro115Leu) http://identifiers.org/clinvar/15792 ^@ NM_000558.3(HBA1):c.424C>T (p.Arg142Cys) http://identifiers.org/clinvar/15793 ^@ NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) http://identifiers.org/clinvar/15794 ^@ NM_000558.4(HBA1):c.91G>A (p.Glu31Lys) http://identifiers.org/clinvar/15795 ^@ NM_000558.4(HBA1):c.104T>G (p.Leu35Arg) http://identifiers.org/clinvar/15796 ^@ NM_000558.3(HBA1):c.349G>C (p.Glu117Gln) http://identifiers.org/clinvar/15797 ^@ NM_000558.4(HBA1):c.46G>C (p.Gly16Arg) http://identifiers.org/clinvar/15798 ^@ NM_000558.4(HBA1):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/15799 ^@ NM_000558.3(HBA1):c.193G>T (p.Asp65Tyr) http://identifiers.org/clinvar/15800 ^@ NM_000558.4(HBA1):c.332C>A (p.Ala111Asp) http://identifiers.org/clinvar/15801 ^@ NM_000558.4(HBA1):c.191C>A (p.Ala64Asp) http://identifiers.org/clinvar/15802 ^@ NM_000558.4(HBA1):c.275T>C (p.Leu92Pro) http://identifiers.org/clinvar/15803 ^@ NM_000558.3(HBA1):c.193G>C (p.Asp65His) http://identifiers.org/clinvar/15804 ^@ NM_000558.3(HBA1):c.226G>C (p.Asp76His) http://identifiers.org/clinvar/15805 ^@ NM_000558.3(HBA1):c.71A>G (p.Glu24Gly) http://identifiers.org/clinvar/15806 ^@ NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) http://identifiers.org/clinvar/15807 ^@ NM_000558.4(HBA1):c.379G>C (p.Asp127His) http://identifiers.org/clinvar/15808 ^@ HBA1, SER49ARG http://identifiers.org/clinvar/15809 ^@ NM_000558.3(HBA1):c.20A>C (p.Asp7Ala) http://identifiers.org/clinvar/15810 ^@ NM_000558.3(HBA1):c.283G>T (p.Asp95Tyr) http://identifiers.org/clinvar/15811 ^@ NM_000558.4(HBA1):c.169A>G (p.Lys57Glu) http://identifiers.org/clinvar/15812 ^@ NM_000558.3(HBA1):c.80C>A (p.Ala27Glu) http://identifiers.org/clinvar/15813 ^@ NM_000558.4(HBA1):c.164A>G (p.Gln55Arg) http://identifiers.org/clinvar/15814 ^@ NM_000558.4(HBA1):c.82G>A (p.Glu28Lys) http://identifiers.org/clinvar/15815 ^@ NM_000558.3(HBA1):c.425G>C (p.Arg142Pro) http://identifiers.org/clinvar/15816 ^@ NM_000558.4(HBA1):c.383A>C (p.Lys128Thr) http://identifiers.org/clinvar/15817 ^@ NM_000558.3(HBA1):c.287C>G (p.Pro96Arg) http://identifiers.org/clinvar/15818 ^@ NM_000558.4(HBA1):c.237C>G (p.Asn79Lys) http://identifiers.org/clinvar/15819 ^@ NM_000558.4(HBA1):c.338A>G (p.His113Arg) http://identifiers.org/clinvar/15820 ^@ NM_000558.3(HBA1):c.283G>C (p.Asp95His) http://identifiers.org/clinvar/15821 ^@ NM_000558.3(HBA1):c.425G>A (p.Arg142His) http://identifiers.org/clinvar/15822 ^@ NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) http://identifiers.org/clinvar/15823 ^@ NM_000558.3(HBA1):c.170A>C (p.Lys57Thr) http://identifiers.org/clinvar/15824 ^@ NM_000558.3(HBA1):c.283G>A (p.Asp95Asn) http://identifiers.org/clinvar/15825 ^@ NM_000558.4(HBA1):c.419A>C (p.Lys140Thr) http://identifiers.org/clinvar/15826 ^@ NM_000558.4(HBA1):c.130T>G (p.Phe44Val) http://identifiers.org/clinvar/15827 ^@ NM_000558.3(HBA1):c.179G>T (p.Gly60Val) http://identifiers.org/clinvar/15828 ^@ NM_000558.4(HBA1):c.410T>G (p.Leu137Arg) http://identifiers.org/clinvar/15829 ^@ NM_000558.3(HBA1):c.341T>A (p.Leu114His) http://identifiers.org/clinvar/15830 ^@ NM_000558.3(HBA1):c.34A>C (p.Lys12Gln) http://identifiers.org/clinvar/15831 ^@ NM_000558.4(HBA1):c.205A>G (p.Asn69Asp) http://identifiers.org/clinvar/15832 ^@ NM_000558.4(HBA1):c.350A>C (p.Glu117Ala) http://identifiers.org/clinvar/15833 ^@ HBA1, HIS122GLN http://identifiers.org/clinvar/15834 ^@ NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) http://identifiers.org/clinvar/15835 ^@ NM_000558.3(HBA1):c.19G>T (p.Asp7Tyr) http://identifiers.org/clinvar/15836 ^@ NM_000558.3(HBA1):c.183G>A (p.Lys61=) http://identifiers.org/clinvar/15837 ^@ NM_000558.3(HBA1):c.171G>C (p.Lys57Asn) http://identifiers.org/clinvar/15838 ^@ NM_000558.3(HBA1):c.331G>A (p.Ala111Thr) http://identifiers.org/clinvar/15839 ^@ NM_000558.4(HBA1):c.380A>T (p.Asp127Val) http://identifiers.org/clinvar/15840 ^@ NM_000558.3(HBA1):c.170A>G (p.Lys57Arg) http://identifiers.org/clinvar/15841 ^@ NM_000558.4(HBA1):c.407T>A (p.Val136Glu) http://identifiers.org/clinvar/15842 ^@ NM_000558.4(HBA1):c.394T>C (p.Ser132Pro) http://identifiers.org/clinvar/15843 ^@ NM_000558.4(HBA1):c.5T>A (p.Val2Glu) http://identifiers.org/clinvar/15844 ^@ NM_000517.4(HBA2):c.122A>T (p.Lys41Met) http://identifiers.org/clinvar/15845 ^@ NM_000558.4(HBA1):c.298A>G (p.Lys100Glu) http://identifiers.org/clinvar/15846 ^@ HBA1, 15-BP TANDEM REPEAT http://identifiers.org/clinvar/15847 ^@ NM_000558.3(HBA1):c.269A>T (p.His90Leu) http://identifiers.org/clinvar/15848 ^@ NM_000558.4(HBA1):c.215C>T (p.Ala72Val) http://identifiers.org/clinvar/15849 ^@ NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) http://identifiers.org/clinvar/15850 ^@ NM_000558.4(HBA1):c.56G>A (p.Gly19Asp) http://identifiers.org/clinvar/15851 ^@ NM_000558.4(HBA1):c.136C>G (p.His46Asp) http://identifiers.org/clinvar/15852 ^@ NM_000558.4(HBA1):c.398T>G (p.Val133Gly) http://identifiers.org/clinvar/15853 ^@ NM_000558.4(HBA1):c.392C>A (p.Ala131Asp) http://identifiers.org/clinvar/15854 ^@ NM_000558.4(HBA1):c.284A>G (p.Asp95Gly) http://identifiers.org/clinvar/15855 ^@ HBA1, ASP126TYR http://identifiers.org/clinvar/15856 ^@ NM_000558.4(HBA1):c.421T>C (p.Tyr141His) http://identifiers.org/clinvar/15857 ^@ NM_000558.4(HBA1):c.343C>T (p.Pro115Ser) http://identifiers.org/clinvar/15858 ^@ NM_000558.4(HBA1):c.118_120delACC (p.Thr40del) http://identifiers.org/clinvar/15859 ^@ NM_000558.4(HBA1):c.277C>T (p.Arg93Trp) http://identifiers.org/clinvar/15860 ^@ NM_000558.3(HBA1):c.74A>G (p.Tyr25Cys) http://identifiers.org/clinvar/15861 ^@ NM_000558.4(HBA1):c.24G>C (p.Lys8Asn) http://identifiers.org/clinvar/15862 ^@ NM_000558.3(HBA1):c.72G>T (p.Glu24Asp) http://identifiers.org/clinvar/15863 ^@ NM_000558.4(HBA1):c.285C>G (p.Asp95Glu) http://identifiers.org/clinvar/15864 ^@ NM_000558.3(HBA1):c.370G>T (p.Ala124Ser) http://identifiers.org/clinvar/15865 ^@ NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) http://identifiers.org/clinvar/15866 ^@ NM_000558.3(HBA1):c.197C>T (p.Ala66Val) http://identifiers.org/clinvar/15867 ^@ NM_000558.3(HBA1):c.238G>A (p.Ala80Thr) http://identifiers.org/clinvar/15868 ^@ NM_000558.3(HBA1):c.334G>A (p.Ala112Thr) http://identifiers.org/clinvar/15869 ^@ NM_000558.3(HBA1):c.217C>T (p.His73Tyr) http://identifiers.org/clinvar/15870 ^@ NM_000558.4(HBA1):c.292A>C (p.Asn98His) http://identifiers.org/clinvar/15871 ^@ HBA1, HIS72GLN http://identifiers.org/clinvar/15872 ^@ NM_000558.4(HBA1):c.157_180del24 (p.Ser53_Gly60del) http://identifiers.org/clinvar/15873 ^@ NM_000558.3(HBA1):c.286C>A (p.Pro96Thr) http://identifiers.org/clinvar/15874 ^@ NM_000558.3(HBA1):c.137A>C (p.His46Pro) http://identifiers.org/clinvar/15875 ^@ NM_000558.3(HBA1):c.187_189delGTG (p.Val63del) http://identifiers.org/clinvar/15876 ^@ NM_000558.3(HBA1):c.310C>T (p.His104Tyr) http://identifiers.org/clinvar/15877 ^@ NM_000558.3(HBA1):c.166G>C (p.Val56Leu) http://identifiers.org/clinvar/15878 ^@ NM_000558.3(HBA1):c.11C>T (p.Ser4Phe) http://identifiers.org/clinvar/15879 ^@ HBA1, 21-BP INS-DUP http://identifiers.org/clinvar/15880 ^@ HBA1, 33-BP DEL http://identifiers.org/clinvar/15881 ^@ NM_000558.3(HBA1):c.30C>G (p.Asn10Lys) http://identifiers.org/clinvar/15882 ^@ NM_000558.3(HBA1):c.123G>C (p.Lys41Asn) http://identifiers.org/clinvar/15883 ^@ NM_000558.3(HBA1):c.281T>C (p.Val94Ala) http://identifiers.org/clinvar/15884 ^@ NM_000558.4(HBA1):c.300G>T (p.Lys100Asn) http://identifiers.org/clinvar/15885 ^@ NM_000558.3(HBA1):c.270C>G (p.His90Gln) http://identifiers.org/clinvar/15886 ^@ NM_000558.3(HBA1):c.268C>T (p.His90Tyr) http://identifiers.org/clinvar/15887 ^@ NM_000558.3(HBA1):c.269A>C (p.His90Pro) http://identifiers.org/clinvar/15888 ^@ NM_000558.3(HBA1):c.269A>G (p.His90Arg) http://identifiers.org/clinvar/15889 ^@ NM_000558.3(HBA1):c.154G>A (p.Gly52Ser) http://identifiers.org/clinvar/15890 ^@ NM_000558.3(HBA1):c.313T>A (p.Cys105Ser) http://identifiers.org/clinvar/15891 ^@ HBA1, 149709T-C http://identifiers.org/clinvar/15892 ^@ HBA1, 1-BP DEL, 354C http://identifiers.org/clinvar/15893 ^@ NM_000558.4(HBA1):c.262C>A (p.His88Asn) http://identifiers.org/clinvar/15895 ^@ HMOX1, EX2DEL http://identifiers.org/clinvar/15896 ^@ HMOX1, 2-BP DEL http://identifiers.org/clinvar/15897 ^@ HMOX1, (GT)n REPEAT http://identifiers.org/clinvar/15898 ^@ NM_005143.4(HP):c.214A>G (p.Lys72Glu) http://identifiers.org/clinvar/15899 ^@ NG_012651.1:g.= http://identifiers.org/clinvar/15900 ^@ HP, DEL http://identifiers.org/clinvar/15901 ^@ HP, -61A-C http://identifiers.org/clinvar/15902 ^@ NM_005143.4(HP):c.740T>C (p.Ile247Thr) http://identifiers.org/clinvar/15903 ^@ NM_002070.3(GNAI2):c.535C>T (p.Arg179Cys) http://identifiers.org/clinvar/15904 ^@ NM_002070.3(GNAI2):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/15905 ^@ NM_002070.3(GNAI2):c.535C>G (p.Arg179Gly) http://identifiers.org/clinvar/15906 ^@ NM_002070.3(GNAI2):c.600T>A (p.Phe200Leu) http://identifiers.org/clinvar/15907 ^@ NM_006121.3(KRT1):c.931G>C (p.Glu311Gln) http://identifiers.org/clinvar/15908 ^@ NM_006121.3(KRT1):c.482T>C (p.Leu161Pro) http://identifiers.org/clinvar/15909 ^@ NM_006121.3(KRT1):c.1445A>G (p.Tyr482Cys) http://identifiers.org/clinvar/15910 ^@ NM_006121.3(KRT1):c.221A>T (p.Lys74Ile) http://identifiers.org/clinvar/15911 ^@ NM_006121.3(KRT1):c.1436T>C (p.Ile479Thr) http://identifiers.org/clinvar/15912 ^@ NM_006121.3(KRT1):c.1435A>T (p.Ile479Phe) http://identifiers.org/clinvar/15913 ^@ NM_006121.3(KRT1):c.464T>A (p.Val155Asp) http://identifiers.org/clinvar/15914 ^@ NM_006121.3(KRT1):c.564C>A (p.Asn188Lys) http://identifiers.org/clinvar/15915 ^@ NM_006121.3(KRT1):c.1424T>C (p.Leu475Pro) http://identifiers.org/clinvar/15916 ^@ KRT1, IVS1, T-A, +2 http://identifiers.org/clinvar/15917 ^@ KRT1, 24-BP DEL, NT1376 http://identifiers.org/clinvar/15918 ^@ KRT1, 1-BP DEL, 1628G http://identifiers.org/clinvar/15919 ^@ NM_006121.3(KRT1):c.1609_1610delGGinsA (p.Gly537Ilefs) http://identifiers.org/clinvar/15920 ^@ KRT1, IVS6, G-A, +1 http://identifiers.org/clinvar/15921 ^@ KRT1, 1-BP INS, 1752G http://identifiers.org/clinvar/15922 ^@ NM_005272.3(GNAT2):c.235C>T (p.Gln79Ter) http://identifiers.org/clinvar/15923 ^@ GNAT2, 4-BP INS, 842TCAG http://identifiers.org/clinvar/15924 ^@ GNAT2, NT285, 7-BP DEL/6-BP INS http://identifiers.org/clinvar/15925 ^@ NM_005272.3(GNAT2):c.461+24G>A http://identifiers.org/clinvar/15926 ^@ NM_144499.2(GNAT1):c.113G>A (p.Gly38Asp) http://identifiers.org/clinvar/15927 ^@ NM_001077488.3(GNAS):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/15928 ^@ GNAS, IVS10DS, G-C, +1 http://identifiers.org/clinvar/15929 ^@ GNAS, 1-BP DEL, 725C http://identifiers.org/clinvar/15930 ^@ GNAS, IVS3AS, A-G, -12 http://identifiers.org/clinvar/15931 ^@ NM_001077488.3(GNAS):c.299T>C (p.Leu100Pro) http://identifiers.org/clinvar/15932 ^@ NM_001077488.3(GNAS):c.496C>T (p.Arg166Cys) http://identifiers.org/clinvar/15933 ^@ NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) http://identifiers.org/clinvar/15934 ^@ NM_000516.5(GNAS):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/15935 ^@ NM_000516.5(GNAS):c.680A>G (p.Gln227Arg) http://identifiers.org/clinvar/15936 ^@ NM_001077488.3(GNAS):c.684G>C (p.Gln228His) http://identifiers.org/clinvar/15937 ^@ NM_000516.5(GNAS):c.601C>A (p.Arg201Ser) http://identifiers.org/clinvar/15938 ^@ NM_001077488.3(GNAS):c.568_571delGACT (p.Asp190Metfs) http://identifiers.org/clinvar/15939 ^@ NM_001077488.3(GNAS):c.753C>G (p.Ser251Arg) http://identifiers.org/clinvar/15940 ^@ GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY http://identifiers.org/clinvar/15941 ^@ NM_001077488.3(GNAS):c.775C>T (p.Arg259Trp) http://identifiers.org/clinvar/15942 ^@ NM_001077488.3(GNAS):c.775_776delCGinsGC (p.Arg259Ala) http://identifiers.org/clinvar/15943 ^@ GNAS, GLN170ALA http://identifiers.org/clinvar/15944 ^@ NM_001077488.3(GNAS):c.1099G>T (p.Ala367Ser) http://identifiers.org/clinvar/15945 ^@ NM_000516.5(GNAS):c.601C>G (p.Arg201Gly) http://identifiers.org/clinvar/15946 ^@ NM_001077488.3(GNAS):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/15947 ^@ GNAS, 2-BP DEL, GA, EXON 8 http://identifiers.org/clinvar/15948 ^@ GNAS, 2-BP DEL, CT, EXON 4 http://identifiers.org/clinvar/15949 ^@ GNAS, 1-BP DEL, 348C http://identifiers.org/clinvar/15950 ^@ GNAS, 1-BP DEL, C, EXON 1 http://identifiers.org/clinvar/15951 ^@ GNAS, 2-BP DEL, TG, EXON 11 http://identifiers.org/clinvar/15952 ^@ GNAS, 2-BP DEL, 860TG http://identifiers.org/clinvar/15953 ^@ NM_001077488.3(GNAS):c.347C>T (p.Pro116Leu) http://identifiers.org/clinvar/15954 ^@ GNAS, 4.7-KB DEL http://identifiers.org/clinvar/15955 ^@ GNAS, 36-BP DUP, ALA138ASP, PRO161ARG http://identifiers.org/clinvar/15956 ^@ GNAS, 3-BP DEL, CAT, EXON 13 http://identifiers.org/clinvar/15957 ^@ GNAS, 1-BP INS, A, EXON 3 http://identifiers.org/clinvar/15958 ^@ GNAS, 12-BP INS, NT1107 http://identifiers.org/clinvar/15959 ^@ GNAS, TYR391TER http://identifiers.org/clinvar/15960 ^@ GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE http://identifiers.org/clinvar/15961 ^@ NM_006877.3(GMPR):c.766T>A (p.Phe256Ile) http://identifiers.org/clinvar/15962 ^@ GH1, 2-BP DEL, FS132TER http://identifiers.org/clinvar/15963 ^@ NM_000515.4(GH1):c.59G>A (p.Trp20Ter) http://identifiers.org/clinvar/15964 ^@ GH1, 6.7-KB DEL http://identifiers.org/clinvar/15965 ^@ GH1, 1-BP DEL, 371C http://identifiers.org/clinvar/15966 ^@ NM_000515.4(GH1):c.456+1G>C http://identifiers.org/clinvar/15967 ^@ NM_000515.4(GH1):c.456+1G>T http://identifiers.org/clinvar/15968 ^@ NM_000515.4(GH1):c.291+6T>C http://identifiers.org/clinvar/15969 ^@ NM_000515.4(GH1):c.307C>T (p.Arg103Cys) http://identifiers.org/clinvar/15970 ^@ NM_000515.4(GH1):c.291+1G>A http://identifiers.org/clinvar/15971 ^@ NM_000515.4(GH1):c.291+1G>C http://identifiers.org/clinvar/15972 ^@ NM_000515.4(GH1):c.291+28G>A http://identifiers.org/clinvar/15973 ^@ GH1, IVS3, 18-BP DEL, +28-45 http://identifiers.org/clinvar/15974 ^@ NM_000515.4(GH1):c.413A>G (p.Asp138Gly) http://identifiers.org/clinvar/15975 ^@ NM_000515.4(GH1):c.291+5G>A http://identifiers.org/clinvar/15976 ^@ NM_000515.4(GH1):c.456+5G>C http://identifiers.org/clinvar/15977 ^@ GH1, EX3, A-G, +5 http://identifiers.org/clinvar/15978 ^@ GH1, EX3DEL http://identifiers.org/clinvar/15979 ^@ NM_000515.4(GH1):c.172-2A>T http://identifiers.org/clinvar/15980 ^@ NM_000515.4(GH1):c.291+2T>C http://identifiers.org/clinvar/15981 ^@ NM_000515.4(GH1):c.236G>C (p.Cys79Ser) http://identifiers.org/clinvar/15982 ^@ GH1, IVS3, 22-BP DEL http://identifiers.org/clinvar/15983 ^@ NM_000515.4(GH1):c.626G>A (p.Arg209His) http://identifiers.org/clinvar/15984 ^@ GH1, EX3, A-C, +2 http://identifiers.org/clinvar/15985 ^@ GH1, EX3, G-A, +1 http://identifiers.org/clinvar/15986 ^@ NM_000583.3(GC):c.1307C>A (p.Thr436Lys) http://identifiers.org/clinvar/15987 ^@ NM_000583.3(GC):c.1296T>G (p.Asp432Glu) http://identifiers.org/clinvar/15988 ^@ NM_000583.3(GC):c.1035-67_1035-64(6_10) http://identifiers.org/clinvar/15989 ^@ NM_000823.3(GHRHR):c.214G>T (p.Glu72Ter) http://identifiers.org/clinvar/15990 ^@ GHRHR, IVS1, G-A, +1 http://identifiers.org/clinvar/15991 ^@ NM_000823.3(GHRHR):c.431T>A (p.Leu144His) http://identifiers.org/clinvar/15992 ^@ NM_000823.3(GHRHR):c.725T>G (p.Phe242Cys) http://identifiers.org/clinvar/15993 ^@ NM_000823.3(GHRHR):c.665C>A (p.Ala222Glu) http://identifiers.org/clinvar/15994 ^@ NM_000823.3(GHRHR):c.985A>G (p.Lys329Glu) http://identifiers.org/clinvar/15995 ^@ GHRHR, -124A-C http://identifiers.org/clinvar/15996 ^@ NM_002890.2(RASA1):c.1193G>T (p.Arg398Leu) http://identifiers.org/clinvar/15997 ^@ NM_002890.2(RASA1):c.1198A>G (p.Lys400Glu) http://identifiers.org/clinvar/15998 ^@ NM_002890.2(RASA1):c.1201A>G (p.Ile401Val) http://identifiers.org/clinvar/15999 ^@ NM_002890.2(RASA1):c.475_476delCT (p.Leu159Glyfs) http://identifiers.org/clinvar/16000 ^@ NM_002890.2(RASA1):c.1619G>A (p.Cys540Tyr) http://identifiers.org/clinvar/16001 ^@ NM_002890.2(RASA1):c.853C>T (p.Arg285Ter) http://identifiers.org/clinvar/16002 ^@ RASA1, IVS3AS, G-A, -9 http://identifiers.org/clinvar/16003 ^@ RASA1, 4-BP DUP, 2252TCAT http://identifiers.org/clinvar/16004 ^@ GNB3, 825C-T http://identifiers.org/clinvar/16005 ^@ NM_156039.3(CSF3R):c.1919C>A (p.Thr640Asn) http://identifiers.org/clinvar/16006 ^@ GRN, IVS0, G-C, +5 http://identifiers.org/clinvar/16007 ^@ NM_002087.3(GRN):c.373C>T (p.Gln125Ter) http://identifiers.org/clinvar/16008 ^@ NM_002087.3(GRN):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/16009 ^@ NM_002087.3(GRN):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/16010 ^@ NM_002087.3(GRN):c.93_96dupCCTG (p.Asp33Profs) http://identifiers.org/clinvar/16011 ^@ NM_002087.3(GRN):c.388_391delCAGT (p.Gln130Serfs) http://identifiers.org/clinvar/16012 ^@ NM_002087.3(GRN):c.835+1G>A http://identifiers.org/clinvar/16013 ^@ NM_002087.3(GRN):c.26C>A (p.Ala9Asp) http://identifiers.org/clinvar/16014 ^@ NM_002087.3(GRN):c.1477C>T (p.Arg493Ter) http://identifiers.org/clinvar/16015 ^@ GRN, 1-BP DEL, 998G http://identifiers.org/clinvar/16016 ^@ GRN, 1-BP INS, 1145A http://identifiers.org/clinvar/16017 ^@ GRN, IVS7AS, A-G, -2 http://identifiers.org/clinvar/16018 ^@ GRN, 2-BP DEL, 675CA http://identifiers.org/clinvar/16019 ^@ GRN, IVS6AS, A-G, -2 http://identifiers.org/clinvar/16020 ^@ NM_002087.3(GRN):c.813_816delCACT (p.Thr272Serfs) http://identifiers.org/clinvar/16021 ^@ GRN, 1-BP DEL, 102C http://identifiers.org/clinvar/16022 ^@ GRN, 1-BP DEL, 154A http://identifiers.org/clinvar/16023 ^@ NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) http://identifiers.org/clinvar/16024 ^@ NM_000406.2(GNRHR):c.785G>A (p.Arg262Gln) http://identifiers.org/clinvar/16025 ^@ NM_000406.2(GNRHR):c.851A>G (p.Tyr284Cys) http://identifiers.org/clinvar/16026 ^@ NM_000406.2(GNRHR):c.386C>A (p.Ala129Asp) http://identifiers.org/clinvar/16027 ^@ NM_000406.2(GNRHR):c.651C>A (p.Ser217Arg) http://identifiers.org/clinvar/16028 ^@ NM_000406.2(GNRHR):c.504T>A (p.Ser168Arg) http://identifiers.org/clinvar/16029 ^@ NM_000406.2(GNRHR):c.941T>A (p.Leu314Ter) http://identifiers.org/clinvar/16030 ^@ NM_000406.2(GNRHR):c.416G>A (p.Arg139His) http://identifiers.org/clinvar/16031 ^@ NM_000406.2(GNRHR):c.30T>A (p.Asn10Lys) http://identifiers.org/clinvar/16032 ^@ NM_000406.2(GNRHR):c.268G>A (p.Glu90Lys) http://identifiers.org/clinvar/16033 ^@ NM_000406.2(GNRHR):c.523_742del http://identifiers.org/clinvar/16034 ^@ NM_000406.2(GNRHR):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/16036 ^@ NM_000406.2(GNRHR):c.959C>T (p.Pro320Leu) http://identifiers.org/clinvar/16037 ^@ NM_006708.2(GLO1):c.332A>C (p.Glu111Ala) http://identifiers.org/clinvar/16038 ^@ NM_000407.4(GP1BB):c.338A>G (p.Tyr113Cys) http://identifiers.org/clinvar/16039 ^@ NM_000407.4(GP1BB):c.397G>C (p.Ala133Pro) http://identifiers.org/clinvar/16040 ^@ NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter) http://identifiers.org/clinvar/16041 ^@ NM_000407.4(GP1BB):c.-160C>G http://identifiers.org/clinvar/16042 ^@ NM_000042.2(APOH):c.796G>T (p.Val266Leu) http://identifiers.org/clinvar/16043 ^@ NM_001622.2(AHSG):c.743T>C (p.Met248Thr) http://identifiers.org/clinvar/16044 ^@ NM_001622.2(AHSG):c.767G>C (p.Ser256Thr) http://identifiers.org/clinvar/16045 ^@ AHSG, 1639A-G http://identifiers.org/clinvar/16046 ^@ ORM1*F1 http://identifiers.org/clinvar/16047 ^@ ORM1*F2 http://identifiers.org/clinvar/16048 ^@ ORM1*S http://identifiers.org/clinvar/16049 ^@ NM_021957.3(GYS2):c.736C>T (p.Arg246Ter) http://identifiers.org/clinvar/16050 ^@ NM_021957.3(GYS2):c.941+1G>C http://identifiers.org/clinvar/16051 ^@ NM_021957.3(GYS2):c.1436C>A (p.Pro479Gln) http://identifiers.org/clinvar/16052 ^@ NM_021957.3(GYS2):c.1015G>C (p.Ala339Pro) http://identifiers.org/clinvar/16053 ^@ NM_021957.3(GYS2):c.1472T>G (p.Met491Arg) http://identifiers.org/clinvar/16054 ^@ NM_021957.3(GYS2):c.116A>G (p.Asn39Ser) http://identifiers.org/clinvar/16055 ^@ NM_021957.3(GYS2):c.1447T>C (p.Ser483Pro) http://identifiers.org/clinvar/16056 ^@ NM_021957.3(GYS2):c.1336C>G (p.His446Asp) http://identifiers.org/clinvar/16057 ^@ NM_002103.4(GYS1):c.1384C>T (p.Arg462Ter) http://identifiers.org/clinvar/16058 ^@ NM_000824.4(GLRB):c.752G>A (p.Gly251Asp) http://identifiers.org/clinvar/16059 ^@ NM_000824.4(GLRB):c.610+5G>A http://identifiers.org/clinvar/16060 ^@ NM_001146040.1(GLRA1):c.896G>T (p.Arg299Leu) http://identifiers.org/clinvar/16061 ^@ NM_001146040.1(GLRA1):c.896G>A (p.Arg299Gln) http://identifiers.org/clinvar/16062 ^@ NM_001146040.1(GLRA1):c.815T>A (p.Ile272Asn) http://identifiers.org/clinvar/16063 ^@ NM_001146040.1(GLRA1):c.920A>G (p.Tyr307Cys) http://identifiers.org/clinvar/16064 ^@ NM_001146040.1(GLRA1):c.882G>C (p.Gln294His) http://identifiers.org/clinvar/16065 ^@ NM_001146040.1(GLRA1):c.910A>G (p.Lys304Glu) http://identifiers.org/clinvar/16066 ^@ NM_001146040.1(GLRA1):c.832C>A (p.Pro278Thr) http://identifiers.org/clinvar/16067 ^@ NM_000171.3(GLRA1):c.298delC (p.Arg100Alafs) http://identifiers.org/clinvar/16068 ^@ NM_000171.3(GLRA1):c.523A>G (p.Met175Val) http://identifiers.org/clinvar/16069 ^@ NM_001146040.1(GLRA1):c.690C>A (p.Tyr230Ter) http://identifiers.org/clinvar/16070 ^@ NM_001146040.1(GLRA1):c.862G>A (p.Val288Met) http://identifiers.org/clinvar/16071 ^@ NM_001146040.1(GLRA1):c.777C>G (p.Ser259Arg) http://identifiers.org/clinvar/16072 ^@ NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del http://identifiers.org/clinvar/16073 ^@ NM_001146040.1(GLRA1):c.971C>A (p.Ser324Ter) http://identifiers.org/clinvar/16074 ^@ NM_001146040.1(GLRA1):c.884G>A (p.Ser295Asn) http://identifiers.org/clinvar/16075 ^@ NM_001710.5(CFB):c.95G>A (p.Arg32Gln) http://identifiers.org/clinvar/16076 ^@ NM_001710.5(CFB):c.94C>T (p.Arg32Trp) http://identifiers.org/clinvar/16077 ^@ NM_001710.5(CFB):c.26T>A (p.Leu9His) http://identifiers.org/clinvar/16079 ^@ NM_001710.5(CFB):c.858C>G (p.Phe286Leu) http://identifiers.org/clinvar/16080 ^@ NM_001710.5(CFB):c.967A>G (p.Lys323Glu) http://identifiers.org/clinvar/16081 ^@ NM_001083112.2(GPD2):c.1904T>C (p.Phe635Ser) http://identifiers.org/clinvar/16082 ^@ NM_000581.3(GPX1):c.599C>T (p.Pro200Leu) http://identifiers.org/clinvar/16083 ^@ NM_002065.6(GLUL):c.970C>T (p.Arg324Cys) http://identifiers.org/clinvar/16084 ^@ NM_002065.6(GLUL):c.1021C>T (p.Arg341Cys) http://identifiers.org/clinvar/16085 ^@ NM_002860.3(ALDH18A1):c.251G>A (p.Arg84Gln) http://identifiers.org/clinvar/16086 ^@ NM_002860.3(ALDH18A1):c.2350C>T (p.His784Tyr) http://identifiers.org/clinvar/16087 ^@ GRIK2, DEL/INV, EX7-11 http://identifiers.org/clinvar/16088 ^@ NM_005309.2(GPT):c.40C>G (p.His14Asp) http://identifiers.org/clinvar/16089 ^@ NM_001042.2(SLC2A4):c.1147G>A (p.Val383Ile) http://identifiers.org/clinvar/16090 ^@ NM_000340.1(SLC2A2):c.589G>A (p.Val197Ile) http://identifiers.org/clinvar/16091 ^@ SLC2A2, 1-BP DEL http://identifiers.org/clinvar/16092 ^@ NM_000340.1(SLC2A2):c.1093C>T (p.Arg365Ter) http://identifiers.org/clinvar/16093 ^@ NM_000340.1(SLC2A2):c.901C>T (p.Arg301Ter) http://identifiers.org/clinvar/16094 ^@ SLC2A2, 1405C-T http://identifiers.org/clinvar/16095 ^@ NM_000340.1(SLC2A2):c.1250C>T (p.Pro417Leu) http://identifiers.org/clinvar/16096 ^@ NM_000340.1(SLC2A2):c.1259G>A (p.Trp420Ter) http://identifiers.org/clinvar/16097 ^@ SLC2A2, 1-BP DEL, 1363G http://identifiers.org/clinvar/16098 ^@ SLC2A2, 1-BP INS, 793C http://identifiers.org/clinvar/16099 ^@ SLC2A2, 1264G-A http://identifiers.org/clinvar/16100 ^@ SLC2A2, 469C-T http://identifiers.org/clinvar/16101 ^@ NM_000340.1(SLC2A2):c.1268T>A (p.Val423Glu) http://identifiers.org/clinvar/16102 ^@ SLC2A2, IVS2AS, A-G, -2 http://identifiers.org/clinvar/16103 ^@ NM_000340.1(SLC2A2):c.859C>T (p.Gln287Ter) http://identifiers.org/clinvar/16104 ^@ NM_000340.1(SLC2A2):c.1166T>C (p.Leu389Pro) http://identifiers.org/clinvar/16105 ^@ NC_000001.11:g.(?_42925375)_(42959176_?)del http://identifiers.org/clinvar/16106 ^@ NM_006516.2(SLC2A1):c.1366A>T (p.Lys456Ter) http://identifiers.org/clinvar/16107 ^@ NM_006516.2(SLC2A1):c.1347C>A (p.Tyr449Ter) http://identifiers.org/clinvar/16108 ^@ NM_006516.2(SLC2A1):c.766_767delAAinsGT (p.Lys256Val) http://identifiers.org/clinvar/16109 ^@ NM_006516.2(SLC2A1):c.377G>T (p.Arg126Leu) http://identifiers.org/clinvar/16110 ^@ NM_006516.2(SLC2A1):c.272G>A (p.Gly91Asp) http://identifiers.org/clinvar/16111 ^@ NM_006516.2(SLC2A1):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/16112 ^@ SLC2A1, 12-BP DEL, NT1022 http://identifiers.org/clinvar/16113 ^@ NM_006516.2(SLC2A1):c.940G>A (p.Gly314Ser) http://identifiers.org/clinvar/16114 ^@ NM_006516.2(SLC2A1):c.823G>A (p.Ala275Thr) http://identifiers.org/clinvar/16115 ^@ NM_006516.2(SLC2A1):c.101A>T (p.Asn34Ile) http://identifiers.org/clinvar/16116 ^@ NM_006516.2(SLC2A1):c.283_284delTCinsAT (p.Ser95Ile) http://identifiers.org/clinvar/16117 ^@ NM_006516.2(SLC2A1):c.277C>T (p.Arg93Trp) http://identifiers.org/clinvar/16118 ^@ NM_006516.2(SLC2A1):c.376C>T (p.Arg126Cys) http://identifiers.org/clinvar/16119 ^@ NM_006516.2(SLC2A1):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/16120 ^@ NM_006516.2(SLC2A1):c.1402C>T (p.Arg468Trp) http://identifiers.org/clinvar/16121 ^@ NM_005271.4(GLUD1):c.1519C>T (p.His507Tyr) http://identifiers.org/clinvar/16122 ^@ NM_005271.4(GLUD1):c.1493C>T (p.Ser498Leu) http://identifiers.org/clinvar/16123 ^@ NM_005271.4(GLUD1):c.1501T>C (p.Ser501Pro) http://identifiers.org/clinvar/16124 ^@ NM_005271.4(GLUD1):c.1495G>A (p.Gly499Ser) http://identifiers.org/clinvar/16125 ^@ NM_005271.4(GLUD1):c.1496G>A (p.Gly499Asp) http://identifiers.org/clinvar/16126 ^@ NM_005271.4(GLUD1):c.1046A>C (p.Glu349Ala) http://identifiers.org/clinvar/16127 ^@ NM_005271.4(GLUD1):c.953G>A (p.Arg318Lys) http://identifiers.org/clinvar/16128 ^@ NM_005271.4(GLUD1):c.820C>T (p.Arg274Cys) http://identifiers.org/clinvar/16129 ^@ NM_005271.4(GLUD1):c.965G>A (p.Arg322His) http://identifiers.org/clinvar/16130 ^@ NM_004285.3(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621Thrfs) http://identifiers.org/clinvar/16131 ^@ NM_004285.3(H6PD):c.1358G>A (p.Arg453Gln) http://identifiers.org/clinvar/16132 ^@ NM_000162.3(GCK):c.835G>T (p.Glu279Ter) http://identifiers.org/clinvar/16133 ^@ NM_000162.3(GCK):c.556C>T (p.Arg186Ter) http://identifiers.org/clinvar/16134 ^@ NM_000162.3(GCK):c.683C>T (p.Thr228Met) http://identifiers.org/clinvar/16135 ^@ NM_000162.3(GCK):c.781G>A (p.Gly261Arg) http://identifiers.org/clinvar/16136 ^@ NM_000162.3(GCK):c.895G>C (p.Gly299Arg) http://identifiers.org/clinvar/16137 ^@ GCK, IVS4DS, 15-BP DEL http://identifiers.org/clinvar/16138 ^@ NM_000162.3(GCK):c.391T>C (p.Ser131Pro) http://identifiers.org/clinvar/16139 ^@ NM_000162.3(GCK):c.793G>T (p.Glu265Ter) http://identifiers.org/clinvar/16140 ^@ NM_000162.3(GCK):c.1363G>A (p.Val455Met) http://identifiers.org/clinvar/16141 ^@ NM_000162.3(GCK):c.629T>A (p.Met210Lys) http://identifiers.org/clinvar/16143 ^@ NM_000162.3(GCK):c.1367C>T (p.Ala456Val) http://identifiers.org/clinvar/16144 ^@ NM_000162.3(GCK):c.641A>G (p.Tyr214Cys) http://identifiers.org/clinvar/16145 ^@ NM_000162.3(GCK):c.1132G>A (p.Ala378Thr) http://identifiers.org/clinvar/16146 ^@ GCK, VAL91LEU http://identifiers.org/clinvar/16147 ^@ NM_001018077.1(NR3C1):c.1922A>T (p.Asp641Val) http://identifiers.org/clinvar/16148 ^@ NM_000176.2(NR3C1):c.1891_1892+2delGAGT http://identifiers.org/clinvar/16149 ^@ NM_001018077.1(NR3C1):c.2259A>T (p.Leu753Phe) http://identifiers.org/clinvar/16150 ^@ NM_001018077.1(NR3C1):c.1088A>G (p.Asn363Ser) http://identifiers.org/clinvar/16151 ^@ NM_001018077.1(NR3C1):c.1676T>A (p.Ile559Asn) http://identifiers.org/clinvar/16152 ^@ NM_001018077.1(NR3C1):c.2241T>G (p.Ile747Met) http://identifiers.org/clinvar/16153 ^@ NM_001018077.1(NR3C1):c.1712T>C (p.Val571Ala) http://identifiers.org/clinvar/155925 ^@ NM_001018077.1(NR3C1):c.66G>A (p.Glu22=) http://identifiers.org/clinvar/16155 ^@ NM_001018077.1(NR3C1):c.2318T>C (p.Leu773Pro) http://identifiers.org/clinvar/16156 ^@ NM_001018077.1(NR3C1):c.1430G>A (p.Arg477His) http://identifiers.org/clinvar/16157 ^@ NM_001018077.1(NR3C1):c.2035G>A (p.Gly679Ser) http://identifiers.org/clinvar/16158 ^@ NM_001018077.1(NR3C1):c.2209T>C (p.Phe737Leu) http://identifiers.org/clinvar/16159 ^@ NM_000160.4(GCGR):c.118G>A (p.Gly40Ser) http://identifiers.org/clinvar/16160 ^@ NM_002437.4(MPV17):c.149G>A (p.Arg50Gln) http://identifiers.org/clinvar/16161 ^@ NM_002437.4(MPV17):c.498C>A (p.Asn166Lys) http://identifiers.org/clinvar/16162 ^@ NM_002437.4(MPV17):c.148C>T (p.Arg50Trp) http://identifiers.org/clinvar/16163 ^@ MPV17, 26-BP DEL, NT116 http://identifiers.org/clinvar/16164 ^@ NM_002437.4(MPV17):c.359G>A (p.Trp120Ter) http://identifiers.org/clinvar/16165 ^@ NM_002437.4(MPV17):c.70G>T (p.Gly24Trp) http://identifiers.org/clinvar/16166 ^@ NM_002437.4(MPV17):c.462-904_*601del1575insGCCTG http://identifiers.org/clinvar/16167 ^@ NM_002055.4(GFAP):c.715C>T (p.Arg239Cys) http://identifiers.org/clinvar/16168 ^@ NM_002055.4(GFAP):c.716G>A (p.Arg239His) http://identifiers.org/clinvar/16169 ^@ NM_002055.4(GFAP):c.1246C>T (p.Arg416Trp) http://identifiers.org/clinvar/16170 ^@ NM_002055.4(GFAP):c.236G>A (p.Arg79His) http://identifiers.org/clinvar/16171 ^@ NM_002055.4(GFAP):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/16172 ^@ NM_002055.4(GFAP):c.262C>T (p.Arg88Cys) http://identifiers.org/clinvar/16173 ^@ NM_002055.4(GFAP):c.262C>A (p.Arg88Ser) http://identifiers.org/clinvar/16174 ^@ NM_002055.4(GFAP):c.226C>T (p.Leu76Phe) http://identifiers.org/clinvar/16175 ^@ NM_002055.4(GFAP):c.229A>T (p.Asn77Tyr) http://identifiers.org/clinvar/16176 ^@ NM_002055.4(GFAP):c.1086G>C (p.Glu362Asp) http://identifiers.org/clinvar/16177 ^@ NM_002055.4(GFAP):c.827G>T (p.Arg276Leu) http://identifiers.org/clinvar/16178 ^@ NM_002055.4(GFAP):c.1055T>C (p.Leu352Pro) http://identifiers.org/clinvar/16179 ^@ NM_002055.4(GFAP):c.234C>A (p.Asp78Glu) http://identifiers.org/clinvar/16180 ^@ NM_001127666.1(GSN):c.520G>A (p.Asp174Asn) http://identifiers.org/clinvar/16181 ^@ NM_001127666.1(GSN):c.520G>T (p.Asp174Tyr) http://identifiers.org/clinvar/16182 ^@ NM_002353.2(TACSTD2):c.352C>T (p.Gln118Ter) http://identifiers.org/clinvar/16183 ^@ NM_002353.2(TACSTD2):c.619C>T (p.Gln207Ter) http://identifiers.org/clinvar/16184 ^@ NM_002353.2(TACSTD2):c.509C>A (p.Ser170Ter) http://identifiers.org/clinvar/16185 ^@ TACSTD2, 1-BP DEL, 632A http://identifiers.org/clinvar/16186 ^@ NM_002353.2(TACSTD2):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/16187 ^@ NM_002353.2(TACSTD2):c.355T>A (p.Cys119Ser) http://identifiers.org/clinvar/16188 ^@ TACSTD2, 12-BP DEL/1-BP INS, NT772 http://identifiers.org/clinvar/16189 ^@ NM_002353.2(TACSTD2):c.557T>C (p.Leu186Pro) http://identifiers.org/clinvar/16190 ^@ NM_021912.4(GABRB3):c.650G>A (p.Arg217His) http://identifiers.org/clinvar/16191 ^@ NM_021912.4(GABRB3):c.31C>T (p.Pro11Ser) http://identifiers.org/clinvar/16192 ^@ NM_000814.5(GABRB3):c.-719C>T http://identifiers.org/clinvar/16193 ^@ NM_021912.4(GABRB3):c.94G>A (p.Gly32Arg) http://identifiers.org/clinvar/16194 ^@ NM_000821.6(GGCX):c.1181T>G (p.Leu394Arg) http://identifiers.org/clinvar/16195 ^@ NM_000821.6(GGCX):c.1502G>C (p.Trp501Ser) http://identifiers.org/clinvar/16196 ^@ NM_000821.6(GGCX):c.899C>T (p.Ser300Phe) http://identifiers.org/clinvar/16197 ^@ NM_000821.6(GGCX):c.1454G>C (p.Arg485Pro) http://identifiers.org/clinvar/16198 ^@ NM_000821.6(GGCX):c.215-1G>T http://identifiers.org/clinvar/16199 ^@ NM_000821.6(GGCX):c.896T>C (p.Phe299Ser) http://identifiers.org/clinvar/16200 ^@ NM_000821.6(GGCX):c.1672G>A (p.Gly558Arg) http://identifiers.org/clinvar/16201 ^@ NM_000821.6(GGCX):c.1478G>C (p.Trp493Ser) http://identifiers.org/clinvar/16202 ^@ NM_000821.6(GGCX):c.1120C>T (p.Gln374Ter) http://identifiers.org/clinvar/16203 ^@ GGCX, GLY537TYR http://identifiers.org/clinvar/16204 ^@ NM_000821.6(GGCX):c.1426C>T (p.Arg476Cys) http://identifiers.org/clinvar/16205 ^@ NM_000821.6(GGCX):c.1427G>A (p.Arg476His) http://identifiers.org/clinvar/16206 ^@ NM_000821.6(GGCX):c.763G>A (p.Val255Met) http://identifiers.org/clinvar/16207 ^@ NM_198903.2(GABRG2):c.1103A>T (p.Lys368Met) http://identifiers.org/clinvar/16208 ^@ NM_000816.3(GABRG2):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/16209 ^@ NM_198903.2(GABRG2):c.1312C>T (p.Gln438Ter) http://identifiers.org/clinvar/16210 ^@ GABRG2, IVS6DS, T-G, +2 http://identifiers.org/clinvar/16211 ^@ NM_198903.2(GABRG2):c.529C>G (p.Arg177Gly) http://identifiers.org/clinvar/16212 ^@ NM_000815.4(GABRD):c.530A>C (p.Glu177Ala) http://identifiers.org/clinvar/16213 ^@ NM_000815.4(GABRD):c.659G>A (p.Arg220His) http://identifiers.org/clinvar/16214 ^@ NM_000806.5(GABRA1):c.965C>A (p.Ala322Asp) http://identifiers.org/clinvar/16215 ^@ GABRA1, 1-BP DEL, 975C http://identifiers.org/clinvar/16216 ^@ NM_000663.4(ABAT):c.659G>A (p.Arg220Lys) http://identifiers.org/clinvar/16217 ^@ ABAT, 3-PRIME DELETION http://identifiers.org/clinvar/16218 ^@ NM_000807.3(GABRA2):c.704-104A>G http://identifiers.org/clinvar/16219 ^@ NM_000807.3(GABRA2):c.255+4909A>T http://identifiers.org/clinvar/16220 ^@ NM_000807.3(GABRA2):c.188-4371A>T http://identifiers.org/clinvar/16221 ^@ NM_004960.3(FUS):c.1551C>G (p.His517Gln) http://identifiers.org/clinvar/16222 ^@ NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) http://identifiers.org/clinvar/16223 ^@ NM_004960.3(FUS):c.1553G>A (p.Arg518Lys) http://identifiers.org/clinvar/16224 ^@ NM_004960.3(FUS):c.1561C>T (p.Arg521Cys) http://identifiers.org/clinvar/16225 ^@ NM_004960.3(FUS):c.1562G>A (p.Arg521His) http://identifiers.org/clinvar/16226 ^@ NM_004960.3(FUS):c.1520G>A (p.Gly507Asp) http://identifiers.org/clinvar/16227 ^@ NM_004960.3(FUS):c.646C>T (p.Arg216Cys) http://identifiers.org/clinvar/16228 ^@ NM_004960.3(FUS):c.1570A>T (p.Arg524Trp) http://identifiers.org/clinvar/16229 ^@ B4GALT1, 1-BP INS, 1031C http://identifiers.org/clinvar/16230 ^@ NM_000143.3(FH):c.793G>A (p.Ala265Thr) http://identifiers.org/clinvar/16231 ^@ NM_000143.3(FH):c.1084G>C (p.Glu362Gln) http://identifiers.org/clinvar/16232 ^@ NM_000143.3(FH):c.301C>T (p.Arg101Ter) http://identifiers.org/clinvar/16234 ^@ NM_000143.3(FH):c.671_672delAG (p.Glu224Valfs) http://identifiers.org/clinvar/16235 ^@ NM_000143.3(FH):c.1027C>T (p.Arg343Ter) http://identifiers.org/clinvar/16236 ^@ NM_000143.3(FH):c.698G>A (p.Arg233His) http://identifiers.org/clinvar/16237 ^@ NM_000143.3(FH):c.698G>T (p.Arg233Leu) http://identifiers.org/clinvar/16238 ^@ NM_000143.3(FH):c.302G>C (p.Arg101Pro) http://identifiers.org/clinvar/16239 ^@ NM_000150.2(FUT6):c.739G>A (p.Glu247Lys) http://identifiers.org/clinvar/16240 ^@ NM_000510.2(FSHB):c.236_237delTG (p.Val79Glufs) http://identifiers.org/clinvar/16241 ^@ NM_000510.2(FSHB):c.205T>G (p.Cys69Gly) http://identifiers.org/clinvar/16242 ^@ NM_000510.2(FSHB):c.282C>A (p.Tyr94Ter) http://identifiers.org/clinvar/16243 ^@ NM_000145.3(FSHR):c.566C>T (p.Ala189Val) http://identifiers.org/clinvar/16244 ^@ NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) http://identifiers.org/clinvar/16245 ^@ NM_000145.3(FSHR):c.1717C>T (p.Arg573Cys) http://identifiers.org/clinvar/16246 ^@ NM_000145.3(FSHR):c.919G>A (p.Ala307Thr) http://identifiers.org/clinvar/16247 ^@ NM_000145.3(FSHR):c.2039G>A (p.Ser680Asn) http://identifiers.org/clinvar/16248 ^@ NM_000145.3(FSHR):c.1255G>A (p.Ala419Thr) http://identifiers.org/clinvar/16249 ^@ NM_000145.3(FSHR):c.1346C>T (p.Thr449Ile) http://identifiers.org/clinvar/16250 ^@ NM_000145.3(FSHR):c.1699G>A (p.Asp567Asn) http://identifiers.org/clinvar/16251 ^@ NM_000145.3(FSHR):c.1555C>A (p.Pro519Thr) http://identifiers.org/clinvar/16252 ^@ NM_000145.3(FSHR):c.1345A>G (p.Thr449Ala) http://identifiers.org/clinvar/16253 ^@ NM_000145.3(FSHR):c.1634T>C (p.Ile545Thr) http://identifiers.org/clinvar/16254 ^@ NM_000145.3(FSHR):c.383C>A (p.Ser128Tyr) http://identifiers.org/clinvar/16255 ^@ NM_016724.2(FOLR1):c.352C>T (p.Gln118Ter) http://identifiers.org/clinvar/16256 ^@ NM_016724.2(FOLR1):c.525C>A (p.Cys175Ter) http://identifiers.org/clinvar/16257 ^@ FOLR1, 18-BP DUP, NT130 http://identifiers.org/clinvar/16259 ^@ NM_182925.4(FLT4):c.2569G>A (p.Gly857Arg) http://identifiers.org/clinvar/16260 ^@ NM_182925.4(FLT4):c.3122G>C (p.Arg1041Pro) http://identifiers.org/clinvar/16261 ^@ NM_182925.4(FLT4):c.3131T>C (p.Leu1044Pro) http://identifiers.org/clinvar/16262 ^@ NM_182925.4(FLT4):c.3341C>T (p.Pro1114Leu) http://identifiers.org/clinvar/16263 ^@ NM_182925.4(FLT4):c.3104A>G (p.His1035Arg) http://identifiers.org/clinvar/16264 ^@ NM_182925.4(FLT4):c.2860C>T (p.Pro954Ser) http://identifiers.org/clinvar/16265 ^@ NM_182925.4(FLT4):c.2632G>A (p.Val878Met) http://identifiers.org/clinvar/16266 ^@ NM_182925.4(FLT4):c.3257T>C (p.Ile1086Thr) http://identifiers.org/clinvar/16267 ^@ NM_182925.4(FLT4):c.3316G>A (p.Glu1106Lys) http://identifiers.org/clinvar/16268 ^@ NM_182925.4(FLT4):c.3323_3325delTCT (p.Phe1108del) http://identifiers.org/clinvar/16269 ^@ NM_182925.4(FLT4):c.2563G>A (p.Ala855Thr) http://identifiers.org/clinvar/16270 ^@ FLT3, INTERNAL TANDEM DUP http://identifiers.org/clinvar/16271 ^@ NM_004119.2(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) http://identifiers.org/clinvar/16272 ^@ NM_004119.2(FLT3):c.2504A>T (p.Asp835Val) http://identifiers.org/clinvar/16273 ^@ NM_004119.2(FLT3):c.2503G>C (p.Asp835His) http://identifiers.org/clinvar/16274 ^@ NM_004119.2(FLT3):c.2503G>A (p.Asp835Asn) http://identifiers.org/clinvar/16275 ^@ FLT3, ASP835GLU http://identifiers.org/clinvar/16276 ^@ NM_004119.2(FLT3):c.2503G>T (p.Asp835Tyr) http://identifiers.org/clinvar/16277 ^@ NM_004119.2(FLT3):c.2503_2505delGAT (p.Asp835del) http://identifiers.org/clinvar/16278 ^@ NM_004119.2(FLT3):c.1777_1779delGAT (p.Asp593del) http://identifiers.org/clinvar/16279 ^@ NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) http://identifiers.org/clinvar/16280 ^@ FGFR1, 2-BP DEL, 1970CA http://identifiers.org/clinvar/16281 ^@ FGFR1, TRP666ARG http://identifiers.org/clinvar/16282 ^@ NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) http://identifiers.org/clinvar/16283 ^@ NM_023110.2(FGFR1):c.1819G>A (p.Val607Met) http://identifiers.org/clinvar/16284 ^@ FGFR1, 936G-A http://identifiers.org/clinvar/16285 ^@ NM_023110.2(FGFR1):c.499G>T (p.Ala167Ser) http://identifiers.org/clinvar/16286 ^@ NM_023110.2(FGFR1):c.989A>T (p.Asn330Ile) http://identifiers.org/clinvar/16287 ^@ NM_023110.2(FGFR1):c.1121A>G (p.Tyr374Cys) http://identifiers.org/clinvar/16288 ^@ FGFR1, CYS379ARG http://identifiers.org/clinvar/16289 ^@ NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) http://identifiers.org/clinvar/16290 ^@ NM_023110.2(FGFR1):c.1141T>C (p.Cys381Arg) http://identifiers.org/clinvar/16291 ^@ NM_023110.2(FGFR1):c.709G>A (p.Gly237Ser) http://identifiers.org/clinvar/242777 ^@ NM_023110.2(FGFR1):c.2165C>A (p.Pro722His) http://identifiers.org/clinvar/16293 ^@ NM_023110.2(FGFR1):c.2038C>T (p.Gln680Ter) http://identifiers.org/clinvar/16294 ^@ NM_023110.2(FGFR1):c.1409G>T (p.Arg470Leu) http://identifiers.org/clinvar/16295 ^@ NM_023110.2(FGFR1):c.1025T>C (p.Leu342Ser) http://identifiers.org/clinvar/16296 ^@ NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter) http://identifiers.org/clinvar/16297 ^@ NM_023110.2(FGFR1):c.1317_1318delTG (p.Val441Serfs) http://identifiers.org/clinvar/16298 ^@ NM_023110.2(FGFR1):c.142G>A (p.Gly48Ser) http://identifiers.org/clinvar/16299 ^@ NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) http://identifiers.org/clinvar/16300 ^@ NM_023110.2(FGFR1):c.2164C>T (p.Pro722Ser) http://identifiers.org/clinvar/16301 ^@ NM_023110.2(FGFR1):c.2292G>T (p.Gln764His) http://identifiers.org/clinvar/16302 ^@ NM_023110.2(FGFR1):c.2302G>T (p.Asp768Tyr) http://identifiers.org/clinvar/16303 ^@ NM_023110.2(FGFR1):c.749G>A (p.Arg250Gln) http://identifiers.org/clinvar/16304 ^@ NM_006894.5(FMO3):c.913G>T (p.Glu305Ter) http://identifiers.org/clinvar/16305 ^@ NM_006894.5(FMO3):c.769G>A (p.Val257Met) http://identifiers.org/clinvar/16306 ^@ NM_001002294.2(FMO3):c.198G>T (p.Met66Ile) http://identifiers.org/clinvar/16307 ^@ NM_001002294.2(FMO3):c.154G>A (p.Ala52Thr) http://identifiers.org/clinvar/16308 ^@ NM_006894.5(FMO3):c.458C>T (p.Pro153Leu) http://identifiers.org/clinvar/16309 ^@ NM_006894.5(FMO3):c.1474C>T (p.Arg492Trp) http://identifiers.org/clinvar/16310 ^@ NM_001002294.2(FMO3):c.442G>T (p.Gly148Ter) http://identifiers.org/clinvar/16311 ^@ NM_001002294.2(FMO3):c.1160G>T (p.Arg387Leu) http://identifiers.org/clinvar/16312 ^@ NM_001002294.2(FMO3):c.940G>T (p.Glu314Ter) http://identifiers.org/clinvar/16313 ^@ NM_006894.5(FMO3):c.182A>G (p.Asn61Ser) http://identifiers.org/clinvar/16314 ^@ NM_001002294.2(FMO3):c.1302G>A (p.Met434Ile) http://identifiers.org/clinvar/16315 ^@ FMO3, 2-EX DEL http://identifiers.org/clinvar/16316 ^@ NM_001002294.2(FMO3):c.94G>A (p.Glu32Lys) http://identifiers.org/clinvar/16317 ^@ FMO3, 1-BP DEL, 191A http://identifiers.org/clinvar/38395 ^@ NM_006894.5(FMO3):c.923A>G (p.Glu308Gly) http://identifiers.org/clinvar/16319 ^@ NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) http://identifiers.org/clinvar/16320 ^@ NM_002016.1(FLG):c.2282_2285delCAGT (p.Ser761Cysfs) http://identifiers.org/clinvar/16321 ^@ NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter) http://identifiers.org/clinvar/16322 ^@ FLG, 1-BP DEL, 3321A http://identifiers.org/clinvar/16323 ^@ NM_212482.2(FN1):c.5773T>A (p.Trp1925Arg) http://identifiers.org/clinvar/16324 ^@ NM_212482.2(FN1):c.5921T>G (p.Leu1974Arg) http://identifiers.org/clinvar/16325 ^@ NM_212482.2(FN1):c.2918A>G (p.Tyr973Cys) http://identifiers.org/clinvar/16326 ^@ NM_213647.2(FGFR4):c.1162G>A (p.Gly388Arg) http://identifiers.org/clinvar/16327 ^@ NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) http://identifiers.org/clinvar/16328 ^@ NM_000142.4(FGFR3):c.1138G>C (p.Gly380Arg) http://identifiers.org/clinvar/16329 ^@ NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) http://identifiers.org/clinvar/16330 ^@ NM_000142.4(FGFR3):c.1123G>T (p.Gly375Cys) http://identifiers.org/clinvar/16331 ^@ NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) http://identifiers.org/clinvar/16332 ^@ NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) http://identifiers.org/clinvar/16333 ^@ NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) http://identifiers.org/clinvar/16334 ^@ NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly) http://identifiers.org/clinvar/16335 ^@ NM_000142.4(FGFR3):c.2419T>A (p.Ter807Arg) http://identifiers.org/clinvar/16336 ^@ NM_000142.4(FGFR3):c.2421A>T (p.Ter807Cys) http://identifiers.org/clinvar/16337 ^@ NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) http://identifiers.org/clinvar/16338 ^@ NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) http://identifiers.org/clinvar/16339 ^@ NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) http://identifiers.org/clinvar/16340 ^@ NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg) http://identifiers.org/clinvar/16341 ^@ NM_000142.4(FGFR3):c.1949A>T (p.Lys650Met) http://identifiers.org/clinvar/16342 ^@ NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) http://identifiers.org/clinvar/16343 ^@ FGFR3, FGFR3/IGH FUSION http://identifiers.org/clinvar/16344 ^@ NM_000142.4(FGFR3):c.1619A>C (p.Asn540Thr) http://identifiers.org/clinvar/16345 ^@ NM_000142.4(FGFR3):c.1612A>G (p.Ile538Val) http://identifiers.org/clinvar/16346 ^@ NM_000142.4(FGFR3):c.1950G>T (p.Lys650Asn) http://identifiers.org/clinvar/16347 ^@ NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) http://identifiers.org/clinvar/16348 ^@ NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) http://identifiers.org/clinvar/16349 ^@ NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser) http://identifiers.org/clinvar/16351 ^@ NM_000142.4(FGFR3):c.964G>A (p.Glu322Lys) http://identifiers.org/clinvar/16352 ^@ NM_001163213.1(FGFR3):c.850delC (p.His284Thrfs) http://identifiers.org/clinvar/16354 ^@ NM_000142.4(FGFR3):c.1537G>A (p.Asp513Asn) http://identifiers.org/clinvar/16355 ^@ NM_000142.4(FGFR3):c.1862G>A (p.Arg621His) http://identifiers.org/clinvar/16356 ^@ NM_000142.4(FGFR3):c.835A>T (p.Ser279Cys) http://identifiers.org/clinvar/16357 ^@ NM_001163213.1(FGFR3):c.833A>G (p.Tyr278Cys) http://identifiers.org/clinvar/16358 ^@ NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu) http://identifiers.org/clinvar/16359 ^@ NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) http://identifiers.org/clinvar/16361 ^@ NM_021870.2(FGG):c.901C>T (p.Arg301Cys) http://identifiers.org/clinvar/16362 ^@ NM_021870.2(FGG):c.902G>A (p.Arg301His) http://identifiers.org/clinvar/16363 ^@ NM_021870.2(FGG):c.953G>T (p.Gly318Val) http://identifiers.org/clinvar/16364 ^@ FIBRINOGEN KYOTO 1 http://identifiers.org/clinvar/16365 ^@ NM_021870.2(FGG):c.1001A>T (p.Asn334Ile) http://identifiers.org/clinvar/16366 ^@ NM_021870.2(FGG):c.1007T>C (p.Met336Thr) http://identifiers.org/clinvar/16367 ^@ FIBRINOGEN VLISSINGEN 1 http://identifiers.org/clinvar/16368 ^@ NM_021870.2(FGG):c.1064A>G (p.Gln355Arg) http://identifiers.org/clinvar/16369 ^@ NM_021870.2(FGG):c.1066G>T (p.Asp356Tyr) http://identifiers.org/clinvar/16370 ^@ NM_021870.2(FGG):c.1067A>T (p.Asp356Val) http://identifiers.org/clinvar/16371 ^@ FIBRINOGEN PARIS 1 http://identifiers.org/clinvar/16372 ^@ FIBRINOGEN OSLO 3 http://identifiers.org/clinvar/16373 ^@ NM_021870.2(FGG):c.1201C>G (p.Arg401Gly) http://identifiers.org/clinvar/16374 ^@ NM_021870.2(FGG):c.1168G>C (p.Asp390His) http://identifiers.org/clinvar/16375 ^@ NM_021870.2(FGG):c.952G>C (p.Gly318Arg) http://identifiers.org/clinvar/16376 ^@ NM_021870.2(FGG):c.78+5G>A http://identifiers.org/clinvar/16377 ^@ NM_021870.2(FGG):c.307+5G>A http://identifiers.org/clinvar/16378 ^@ NM_021870.2(FGG):c.571G>A (p.Gly191Arg) http://identifiers.org/clinvar/16379 ^@ NM_021870.2(FGG):c.926G>A (p.Gly309Asp) http://identifiers.org/clinvar/16380 ^@ NM_021870.2(FGG):c.667-320A>T http://identifiers.org/clinvar/16381 ^@ FIBRINOGEN NEW YORK 1 http://identifiers.org/clinvar/16382 ^@ NM_005141.4(FGB):c.130C>T (p.Arg44Cys) http://identifiers.org/clinvar/16383 ^@ NM_005141.4(FGB):c.1093G>A (p.Ala365Thr) http://identifiers.org/clinvar/16384 ^@ NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) http://identifiers.org/clinvar/16385 ^@ NM_005141.4(FGB):c.133G>T (p.Gly45Cys) http://identifiers.org/clinvar/16386 ^@ NM_005141.4(FGB):c.220C>T (p.Arg74Cys) http://identifiers.org/clinvar/16387 ^@ NM_005141.4(FGB):c.292G>A (p.Ala98Thr) http://identifiers.org/clinvar/16388 ^@ FGB, PROMOTER MUTATION, -455G-A http://identifiers.org/clinvar/16389 ^@ NM_005141.4(FGB):c.1148T>G (p.Leu383Arg) http://identifiers.org/clinvar/16390 ^@ NM_005141.4(FGB):c.1289G>A (p.Gly430Asp) http://identifiers.org/clinvar/16391 ^@ NM_005141.4(FGB):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/16392 ^@ NM_005141.4(FGB):c.958+13C>T http://identifiers.org/clinvar/16393 ^@ NM_005141.4(FGB):c.1244+1G>T http://identifiers.org/clinvar/16394 ^@ FGB, -148T-C http://identifiers.org/clinvar/16395 ^@ NM_005141.4(FGB):c.605T>A (p.Leu202Gln) http://identifiers.org/clinvar/16396 ^@ NM_005141.4(FGB):c.139C>T (p.Arg47Ter) http://identifiers.org/clinvar/16397 ^@ NM_000508.3(FGA):c.76G>A (p.Asp26Asn) http://identifiers.org/clinvar/16398 ^@ NM_000508.3(FGA):c.92G>T (p.Gly31Val) http://identifiers.org/clinvar/16399 ^@ NM_000508.3(FGA):c.103C>T (p.Arg35Cys) http://identifiers.org/clinvar/16400 ^@ FIBRINOGEN MUNICH 1 http://identifiers.org/clinvar/16401 ^@ FIBRINOGEN DETROIT 1 http://identifiers.org/clinvar/16402 ^@ NM_000508.3(FGA):c.112A>G (p.Arg38Gly) http://identifiers.org/clinvar/16403 ^@ NM_000508.3(FGA):c.110C>T (p.Pro37Leu) http://identifiers.org/clinvar/16404 ^@ NM_000508.4(FGA):c.104G>A (p.Arg35His) http://identifiers.org/clinvar/16405 ^@ NM_000508.3(FGA):c.1358G>A (p.Ser453Asn) http://identifiers.org/clinvar/16406 ^@ FIBRINOGEN LIMA http://identifiers.org/clinvar/16407 ^@ NM_000508.3(FGA):c.1438A>T (p.Lys480Ter) http://identifiers.org/clinvar/16408 ^@ NM_000508.4(FGA):c.1718G>T (p.Arg573Leu) http://identifiers.org/clinvar/16409 ^@ NM_000508.4(FGA):c.1622delT (p.Val541Alafs) http://identifiers.org/clinvar/16410 ^@ NM_000508.4(FGA):c.1634A>T (p.Glu545Val) http://identifiers.org/clinvar/16411 ^@ NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) http://identifiers.org/clinvar/16412 ^@ NM_000508.3(FGA):c.116T>A (p.Val39Asp) http://identifiers.org/clinvar/16413 ^@ NM_000508.4(FGA):c.1629delG (p.Thr544Leufs) http://identifiers.org/clinvar/16414 ^@ NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del http://identifiers.org/clinvar/16415 ^@ NM_000508.4(FGA):c.510+1G>T http://identifiers.org/clinvar/16416 ^@ FIBRINOGEN NIEUWEGEIN http://identifiers.org/clinvar/16417 ^@ NM_000508.4(FGA):c.711dupT (p.Lys238Terfs) http://identifiers.org/clinvar/16418 ^@ NM_000508.3(FGA):c.1039C>T (p.Gln347Ter) http://identifiers.org/clinvar/16420 ^@ NM_000508.4(FGA):c.991A>G (p.Thr331Ala) http://identifiers.org/clinvar/16421 ^@ NM_000138.4(FBN1):c.3410G>C (p.Arg1137Pro) http://identifiers.org/clinvar/16422 ^@ NM_000138.4(FBN1):c.6920G>C (p.Cys2307Ser) http://identifiers.org/clinvar/16423 ^@ FBN1, 366-BP DEL http://identifiers.org/clinvar/16424 ^@ NM_000138.4(FBN1):c.8268G>A (p.Trp2756Ter) http://identifiers.org/clinvar/16425 ^@ NM_000138.4(FBN1):c.3746G>C (p.Cys1249Ser) http://identifiers.org/clinvar/16426 ^@ NM_000138.4(FBN1):c.4987T>C (p.Cys1663Arg) http://identifiers.org/clinvar/16427 ^@ NM_000138.4(FBN1):c.6662G>C (p.Cys2221Ser) http://identifiers.org/clinvar/16428 ^@ NM_000138.4(FBN1):c.3350G>A (p.Cys1117Tyr) http://identifiers.org/clinvar/16429 ^@ NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr) http://identifiers.org/clinvar/16430 ^@ NM_000138.4(FBN1):c.6339T>G (p.Tyr2113Ter) http://identifiers.org/clinvar/16431 ^@ NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) http://identifiers.org/clinvar/16432 ^@ NM_000138.4(FBN1):c.1643A>T (p.Asn548Ile) http://identifiers.org/clinvar/16433 ^@ NM_000138.4(FBN1):c.2168A>C (p.Asp723Ala) http://identifiers.org/clinvar/16434 ^@ FBN1, 4-BP INS, NT5138 http://identifiers.org/clinvar/16435 ^@ FBN1, 83-BP DEL http://identifiers.org/clinvar/16436 ^@ FBN1, IVS54DS, G-C, +1, 123-BP DEL http://identifiers.org/clinvar/16437 ^@ NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) http://identifiers.org/clinvar/16438 ^@ NM_000138.4(FBN1):c.3220T>C (p.Cys1074Arg) http://identifiers.org/clinvar/16439 ^@ NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) http://identifiers.org/clinvar/16440 ^@ NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) http://identifiers.org/clinvar/16441 ^@ NM_000138.4(FBN1):c.3965-2A>T http://identifiers.org/clinvar/16442 ^@ NM_000138.4(FBN1):c.4087+1G>A http://identifiers.org/clinvar/16443 ^@ NM_000138.4(FBN1):c.3379G>A (p.Gly1127Ser) http://identifiers.org/clinvar/16444 ^@ NM_000138.4(FBN1):c.3668G>A (p.Cys1223Tyr) http://identifiers.org/clinvar/16445 ^@ NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) http://identifiers.org/clinvar/16446 ^@ NM_000138.4(FBN1):c.3128A>G (p.Lys1043Arg) http://identifiers.org/clinvar/16447 ^@ NM_000138.4(FBN1):c.3391A>T (p.Asn1131Tyr) http://identifiers.org/clinvar/16448 ^@ FBN1, 1-BP DEL, 3192A http://identifiers.org/clinvar/16449 ^@ NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) http://identifiers.org/clinvar/16450 ^@ NM_000138.4(FBN1):c.3793T>C (p.Cys1265Arg) http://identifiers.org/clinvar/16451 ^@ NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) http://identifiers.org/clinvar/16452 ^@ NM_000138.4(FBN1):c.1585C>T (p.Arg529Ter) http://identifiers.org/clinvar/16453 ^@ NM_000138.4(FBN1):c.2954G>A (p.Gly985Glu) http://identifiers.org/clinvar/16454 ^@ FBN1, IVS2DS, G-A, +1 http://identifiers.org/clinvar/16455 ^@ NM_000138.4(FBN1):c.3037G>C (p.Gly1013Arg) http://identifiers.org/clinvar/16456 ^@ FBN1, 33-BP INS, IVS46, G-A, +1 http://identifiers.org/clinvar/16457 ^@ NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) http://identifiers.org/clinvar/16458 ^@ FBN1, IVS46+5G-A http://identifiers.org/clinvar/16459 ^@ FBN1, 24-BP DEL http://identifiers.org/clinvar/16460 ^@ NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys) http://identifiers.org/clinvar/16461 ^@ NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) http://identifiers.org/clinvar/16462 ^@ NM_000138.4(FBN1):c.3095G>A (p.Cys1032Tyr) http://identifiers.org/clinvar/16463 ^@ NM_000138.4(FBN1):c.3386G>A (p.Cys1129Tyr) http://identifiers.org/clinvar/16464 ^@ NM_000138.4(FBN1):c.3662G>A (p.Cys1221Tyr) http://identifiers.org/clinvar/16465 ^@ NM_000138.4(FBN1):c.3257G>A (p.Cys1086Tyr) http://identifiers.org/clinvar/16466 ^@ NM_000138.4(FBN1):c.1453C>T (p.Arg485Cys) http://identifiers.org/clinvar/16467 ^@ FBN1, 302.5-KB DEL http://identifiers.org/clinvar/16468 ^@ FBN1, EX13-49DEL http://identifiers.org/clinvar/16469 ^@ NM_000138.4(FBN1):c.4710G>T (p.Trp1570Cys) http://identifiers.org/clinvar/16470 ^@ NM_000138.4(FBN1):c.4710G>C (p.Trp1570Cys) http://identifiers.org/clinvar/16471 ^@ NM_000138.4(FBN1):c.4691G>C (p.Cys1564Ser) http://identifiers.org/clinvar/16472 ^@ NM_000138.4(FBN1):c.4729T>G (p.Cys1577Gly) http://identifiers.org/clinvar/16474 ^@ NM_000146.3(FTL):c.-160A>G http://identifiers.org/clinvar/16475 ^@ NM_000146.3(FTL):c.-159G>C http://identifiers.org/clinvar/16476 ^@ NM_000146.3(FTL):c.-168G>A http://identifiers.org/clinvar/267290 ^@ NM_000146.3(FTL):c.-182C>T http://identifiers.org/clinvar/16478 ^@ NM_000146.3(FTL):c.-190_-162del29 http://identifiers.org/clinvar/16479 ^@ NM_000146.3(FTL):c.-168G>T http://identifiers.org/clinvar/16480 ^@ NM_000146.3(FTL):c.-161C>T http://identifiers.org/clinvar/16481 ^@ NM_000146.3(FTL):c.-164C>A http://identifiers.org/clinvar/16482 ^@ NM_000146.3(FTL):c.-149G>C http://identifiers.org/clinvar/16483 ^@ FTL, 1-BP INS, 460A http://identifiers.org/clinvar/16484 ^@ NM_000146.3(FTL):c.-178_-173delTCTGTC http://identifiers.org/clinvar/16485 ^@ NM_000146.3(FTL):c.-168G>C http://identifiers.org/clinvar/16486 ^@ NM_000146.3(FTL):c.286G>A (p.Ala96Thr) http://identifiers.org/clinvar/16487 ^@ FTL, 2-BP INS, 498TC http://identifiers.org/clinvar/16488 ^@ NM_000146.3(FTL):c.469_484dup16 (p.Leu162Argfs) http://identifiers.org/clinvar/16489 ^@ NM_000146.3(FTL):c.458dupA (p.His153Glnfs) http://identifiers.org/clinvar/16490 ^@ NM_002032.2(FTH1):c.-164A>T http://identifiers.org/clinvar/16491 ^@ GSTP1, ILE105 AND ALA114 http://identifiers.org/clinvar/16492 ^@ GSTP1, VAL105 AND ALA114 http://identifiers.org/clinvar/16493 ^@ GSTP1, VAL105 AND VAL114 http://identifiers.org/clinvar/16494 ^@ NM_000134.3(FABP2):c.163A>G (p.Thr55Ala) http://identifiers.org/clinvar/16495 ^@ NM_000639.2(FASLG):c.472_555del84 (p.Met158_Glu185del) http://identifiers.org/clinvar/16496 ^@ NM_000639.2(FASLG):c.-157-687C= http://identifiers.org/clinvar/16497 ^@ NM_000043.5(FAS):c.232delG (p.Asp78Metfs) http://identifiers.org/clinvar/16498 ^@ NM_000043.5(FAS):c.334+2dupT http://identifiers.org/clinvar/16499 ^@ NM_000043.5(FAS):c.721A>C (p.Thr241Pro) http://identifiers.org/clinvar/16500 ^@ NM_000043.5(FAS):c.569-2A>C http://identifiers.org/clinvar/16501 ^@ NM_000043.5(FAS):c.817C>T (p.Gln273Ter) http://identifiers.org/clinvar/16502 ^@ NM_000043.5(FAS):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/16503 ^@ NM_000043.5(FAS):c.695A>G (p.Tyr232Cys) http://identifiers.org/clinvar/16504 ^@ NM_000043.5(FAS):c.779A>T (p.Asp260Val) http://identifiers.org/clinvar/16505 ^@ NM_000043.5(FAS):c.749G>C (p.Arg250Pro) http://identifiers.org/clinvar/16506 ^@ NM_000043.5(FAS):c.809C>T (p.Thr270Ile) http://identifiers.org/clinvar/16507 ^@ NM_000043.5(FAS):c.651+2T>A http://identifiers.org/clinvar/16508 ^@ NM_000043.5(FAS):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/16509 ^@ NM_000043.5(FAS):c.968_987dup20 (p.Glu330Lysfs) http://identifiers.org/clinvar/16510 ^@ NM_000043.5(FAS):c.763A>G (p.Asn255Asp) http://identifiers.org/clinvar/16511 ^@ NM_000043.5(FAS):c.353A>G (p.Asn118Ser) http://identifiers.org/clinvar/16512 ^@ NM_000043.5(FAS):c.532T>C (p.Cys178Arg) http://identifiers.org/clinvar/16513 ^@ NM_000043.5(FAS):c.740G>C (p.Gly247Ala) http://identifiers.org/clinvar/16514 ^@ NM_000043.5(FAS):c.651+2T>C http://identifiers.org/clinvar/16515 ^@ NM_000043.5(FAS):c.692_693insT (p.Lys231Asnfs) http://identifiers.org/clinvar/16516 ^@ NM_000043.5(FAS):c.778G>T (p.Asp260Tyr) http://identifiers.org/clinvar/16517 ^@ NM_000043.5(FAS):c.-1378G>A http://identifiers.org/clinvar/16518 ^@ F13B, 1-BP DEL, IVS1AS, A, -2 http://identifiers.org/clinvar/16519 ^@ NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) http://identifiers.org/clinvar/16520 ^@ NM_001994.2(F13B):c.344G>A (p.Arg115His) http://identifiers.org/clinvar/16521 ^@ F13B, 3-BP INS, AAC http://identifiers.org/clinvar/16522 ^@ NM_001994.2(F13B):c.1498delG (p.Glu500Asnfs) http://identifiers.org/clinvar/16523 ^@ F13A1, 2-BP DEL, 210AG http://identifiers.org/clinvar/16524 ^@ NM_000129.3(F13A1):c.2045G>A (p.Arg682His) http://identifiers.org/clinvar/16525 ^@ NM_000129.3(F13A1):c.514C>T (p.Arg172Ter) http://identifiers.org/clinvar/16526 ^@ NM_000129.3(F13A1):c.1326C>A (p.Tyr442Ter) http://identifiers.org/clinvar/16527 ^@ NM_000129.3(F13A1):c.183C>A (p.Asn61Lys) http://identifiers.org/clinvar/16528 ^@ NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg) http://identifiers.org/clinvar/16529 ^@ NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg) http://identifiers.org/clinvar/16530 ^@ NM_000129.3(F13A1):c.1243G>T (p.Val415Phe) http://identifiers.org/clinvar/16531 ^@ NM_000129.3(F13A1):c.782G>A (p.Arg261His) http://identifiers.org/clinvar/16532 ^@ NM_000129.3(F13A1):c.103G>T (p.Val35Leu) http://identifiers.org/clinvar/16533 ^@ NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) http://identifiers.org/clinvar/16534 ^@ NM_000129.3(F13A1):c.949G>T (p.Val317Phe) http://identifiers.org/clinvar/16535 ^@ NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys) http://identifiers.org/clinvar/16536 ^@ F13A1, 1-BP INS, 1286C http://identifiers.org/clinvar/16537 ^@ F13A1, IVS5AS, G-A, -1 http://identifiers.org/clinvar/16538 ^@ NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp) http://identifiers.org/clinvar/16539 ^@ NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) http://identifiers.org/clinvar/16540 ^@ NM_000129.3(F13A1):c.728T>C (p.Met243Thr) http://identifiers.org/clinvar/16542 ^@ NM_000186.3(CFH):c.3643C>G (p.Arg1215Gly) http://identifiers.org/clinvar/16543 ^@ NM_000186.3(CFH):c.1606T>C (p.Cys536Arg) http://identifiers.org/clinvar/16544 ^@ NM_000186.3(CFH):c.2876G>A (p.Cys959Tyr) http://identifiers.org/clinvar/16545 ^@ NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) http://identifiers.org/clinvar/16546 ^@ NM_000186.3(CFH):c.3677_*4del24 http://identifiers.org/clinvar/16547 ^@ NM_000186.3(CFH):c.565G>T (p.Glu189Ter) http://identifiers.org/clinvar/16548 ^@ NM_000186.3(CFH):c.3566T>G (p.Leu1189Arg) http://identifiers.org/clinvar/16549 ^@ NM_000186.3(CFH):c.1204C= (p.His402=) http://identifiers.org/clinvar/16550 ^@ NM_000186.3(CFH):c.184G>A (p.Val62Ile) http://identifiers.org/clinvar/16551 ^@ NM_000186.3(CFH):c.1291T>A (p.Cys431Ser) http://identifiers.org/clinvar/16552 ^@ NM_000186.3(CFH):c.83_86delGAAA (p.Arg28Ilefs) http://identifiers.org/clinvar/16553 ^@ NM_000186.3(CFH):c.2697T>A (p.Tyr899Ter) http://identifiers.org/clinvar/16554 ^@ NM_000186.3(CFH):c.380G>T (p.Arg127Leu) http://identifiers.org/clinvar/16555 ^@ NM_000186.3(CFH):c.671_673delAGA (p.Lys224del) http://identifiers.org/clinvar/16556 ^@ NM_000186.3(CFH):c.1419G>C (p.Ala473=) http://identifiers.org/clinvar/16557 ^@ NM_000186.3(CFH):c.2237-543G= http://identifiers.org/clinvar/16558 ^@ NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) http://identifiers.org/clinvar/16559 ^@ NM_000186.3(CFH):c.3514G>T (p.Glu1172Ter) http://identifiers.org/clinvar/16560 ^@ NM_000186.3(CFH):c.1222C>T (p.Gln408Ter) http://identifiers.org/clinvar/16561 ^@ NM_000186.3(CFH):c.3234G>T (p.Arg1078Ser) http://identifiers.org/clinvar/16562 ^@ NM_000186.3(CFH):c.350+6T>G http://identifiers.org/clinvar/16563 ^@ NM_000186.3(CFH):c.3592G>T (p.Glu1198Ter) http://identifiers.org/clinvar/16564 ^@ NM_001928.3(CFD):c.125C>A (p.Ser42Ter) http://identifiers.org/clinvar/242776 ^@ NM_001928.3(CFD):c.638T>G (p.Val213Gly) http://identifiers.org/clinvar/16566 ^@ NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) http://identifiers.org/clinvar/16567 ^@ NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) http://identifiers.org/clinvar/16568 ^@ ERCC5, 1-BP DEL, 2972T http://identifiers.org/clinvar/16569 ^@ ERCC5, 1-BP DEL, 2170A http://identifiers.org/clinvar/16570 ^@ NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) http://identifiers.org/clinvar/16571 ^@ NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) http://identifiers.org/clinvar/16572 ^@ NM_000123.3(ERCC5):c.215C>A (p.Pro72His) http://identifiers.org/clinvar/16573 ^@ NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) http://identifiers.org/clinvar/16574 ^@ NM_000123.3(ERCC5):c.1115_1118delGGAA (p.Arg372Thrfs) http://identifiers.org/clinvar/16575 ^@ NM_000123.3(ERCC5):c.1494delA (p.Asp499Ilefs) http://identifiers.org/clinvar/16576 ^@ NM_000123.3(ERCC5):c.2751delA (p.Lys917Asnfs) http://identifiers.org/clinvar/16577 ^@ NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) http://identifiers.org/clinvar/16578 ^@ NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) http://identifiers.org/clinvar/16579 ^@ NM_005236.2(ERCC4):c.2304_2307delTCTC (p.Thr770Profs) http://identifiers.org/clinvar/16580 ^@ NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) http://identifiers.org/clinvar/16581 ^@ NM_005236.2(ERCC4):c.458G>C (p.Arg153Pro) http://identifiers.org/clinvar/16582 ^@ ERCC3, IVS14AS, C-A, -6 http://identifiers.org/clinvar/16583 ^@ NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser) http://identifiers.org/clinvar/16584 ^@ NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) http://identifiers.org/clinvar/16585 ^@ NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) http://identifiers.org/clinvar/16586 ^@ ERCC3, 2-BP DEL, 807TT http://identifiers.org/clinvar/16587 ^@ ERCC3, 1-BP INS, 1421A http://identifiers.org/clinvar/16588 ^@ NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) http://identifiers.org/clinvar/16589 ^@ ERCC3, IVS3DS, G-A, +1 http://identifiers.org/clinvar/16590 ^@ NM_001122742.1(ESR1):c.1339_1340delTGinsGC (p.Cys447Ala) http://identifiers.org/clinvar/16591 ^@ ESR1, 594G-A http://identifiers.org/clinvar/16592 ^@ NM_001122742.1(ESR1):c.469C>T (p.Arg157Ter) http://identifiers.org/clinvar/16593 ^@ NM_001122742.1(ESR1):c.1091T>A (p.Val364Glu) http://identifiers.org/clinvar/16594 ^@ ESR1, IVS1, T-C, -401 http://identifiers.org/clinvar/16595 ^@ NM_000121.3(EPOR):c.1317G>A (p.Trp439Ter) http://identifiers.org/clinvar/16596 ^@ EPOR, 1-BP INS, 5975G http://identifiers.org/clinvar/16597 ^@ EPOR, 1-BP INS, 5967T http://identifiers.org/clinvar/16598 ^@ NM_000121.3(EPOR):c.1460A>G (p.Asn487Ser) http://identifiers.org/clinvar/16599 ^@ EPOR, 7-BP DEL, NT5980 http://identifiers.org/clinvar/16600 ^@ NM_000121.3(EPOR):c.1278C>G (p.Tyr426Ter) http://identifiers.org/clinvar/16601 ^@ EPOR, 5968_5975DUP http://identifiers.org/clinvar/16602 ^@ NM_000799.2(EPO):c.-1306C>A http://identifiers.org/clinvar/16603 ^@ NM_001979.5(EPHX2):c.860G>A (p.Arg287Gln) http://identifiers.org/clinvar/16604 ^@ NM_001136018.3(EPHX1):c.337T>C (p.Tyr113His) http://identifiers.org/clinvar/16605 ^@ NM_001136018.3(EPHX1):c.416A>G (p.His139Arg) http://identifiers.org/clinvar/16606 ^@ EPHX1, -4238T-A http://identifiers.org/clinvar/16607 ^@ EPHX1, 2557C-G http://identifiers.org/clinvar/16608 ^@ NM_005228.4(EGFR):c.2240_2257del18 (p.Leu747_Pro753delinsSer) http://identifiers.org/clinvar/16609 ^@ NM_005228.4(EGFR):c.2573T>G (p.Leu858Arg) http://identifiers.org/clinvar/16610 ^@ NM_005228.4(EGFR):c.2239_2251delTTAAGAGAAGCAAinsC (p.Leu747_Thr751delinsPro) http://identifiers.org/clinvar/16611 ^@ NM_005228.4(EGFR):c.2155G>T (p.Gly719Cys) http://identifiers.org/clinvar/16612 ^@ NM_005228.4(EGFR):c.2155G>A (p.Gly719Ser) http://identifiers.org/clinvar/16613 ^@ NM_005228.4(EGFR):c.2369C>T (p.Thr790Met) http://identifiers.org/clinvar/16614 ^@ NM_001963.5(EGF):c.3209C>T (p.Pro1070Leu) http://identifiers.org/clinvar/16615 ^@ NM_000502.5(EPX):c.857G>A (p.Arg286His) http://identifiers.org/clinvar/16616 ^@ NM_000502.5(EPX):c.1541dupG (p.Ile515Hisfs) http://identifiers.org/clinvar/16617 ^@ NM_001976.4(ENO3):c.467G>A (p.Gly156Asp) http://identifiers.org/clinvar/16618 ^@ NM_001976.4(ENO3):c.1121G>A (p.Gly374Glu) http://identifiers.org/clinvar/16619 ^@ GATA3, 900-KB DEL http://identifiers.org/clinvar/16620 ^@ GATA3, 250-KB DEL http://identifiers.org/clinvar/16621 ^@ GATA3, 49-BP DEL, NT465-513 http://identifiers.org/clinvar/16622 ^@ GATA3, 12-BP DEL, NT946-957 http://identifiers.org/clinvar/16623 ^@ NM_001002295.1(GATA3):c.829C>T (p.Arg277Ter) http://identifiers.org/clinvar/16624 ^@ NM_001002295.1(GATA3):c.823T>A (p.Trp275Arg) http://identifiers.org/clinvar/16625 ^@ GATA3, 2-BP INS, 3-BP INS http://identifiers.org/clinvar/16626 ^@ NM_001002295.1(GATA3):c.1099C>T (p.Arg367Ter) http://identifiers.org/clinvar/16627 ^@ GATA3, 1-BP DEL, 431G http://identifiers.org/clinvar/16628 ^@ GATA3, 1-BP DEL, 478G http://identifiers.org/clinvar/16629 ^@ NM_001002295.1(GATA3):c.924+2delTinsGCTTACTTCCC http://identifiers.org/clinvar/16630 ^@ NM_001002295.1(GATA3):c.1059A>T (p.Arg353Ser) http://identifiers.org/clinvar/16631 ^@ NM_001427.3(EN2):c.686-1073G>A http://identifiers.org/clinvar/16632 ^@ NM_001427.3(EN2):c.686-921T>C http://identifiers.org/clinvar/16633 ^@ NM_000115.4(EDNRB):c.828G>T (p.Trp276Cys) http://identifiers.org/clinvar/16634 ^@ NM_000115.4(EDNRB):c.548C>G (p.Ala183Gly) http://identifiers.org/clinvar/16635 ^@ NM_000115.4(EDNRB):c.824G>A (p.Trp275Ter) http://identifiers.org/clinvar/16636 ^@ EDNRB, 1-BP INS, 878T http://identifiers.org/clinvar/16637 ^@ NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) http://identifiers.org/clinvar/16638 ^@ NM_000115.4(EDNRB):c.914G>A (p.Ser305Asn) http://identifiers.org/clinvar/16639 ^@ NM_000115.4(EDNRB):c.757C>T (p.Arg253Ter) http://identifiers.org/clinvar/16640 ^@ NM_000115.4(EDNRB):c.601C>T (p.Arg201Ter) http://identifiers.org/clinvar/16641 ^@ NM_001201397.1(EDNRB):c.43A>T (p.Lys15Ter) http://identifiers.org/clinvar/16642 ^@ EDNRA, -231G http://identifiers.org/clinvar/16643 ^@ EDN3, 262GC-T http://identifiers.org/clinvar/16644 ^@ NM_207034.2(EDN3):c.476G>T (p.Cys159Phe) http://identifiers.org/clinvar/16645 ^@ EDN3, 1-BP INS http://identifiers.org/clinvar/16646 ^@ NM_207034.2(EDN3):c.49G>A (p.Ala17Thr) http://identifiers.org/clinvar/16647 ^@ NM_207034.2(EDN3):c.670G>A (p.Ala224Thr) http://identifiers.org/clinvar/16648 ^@ EDN3, 1-BP INS, 262G http://identifiers.org/clinvar/16649 ^@ NM_207034.2(EDN3):c.507C>A (p.Cys169Ter) http://identifiers.org/clinvar/16650 ^@ NM_207034.2(EDN3):c.335A>G (p.His112Arg) http://identifiers.org/clinvar/16651 ^@ NM_207034.2(EDN3):c.277C>G (p.Arg93Gly) http://identifiers.org/clinvar/16652 ^@ NM_001955.4(EDN1):c.594G>T (p.Lys198Asn) http://identifiers.org/clinvar/16653 ^@ NM_001113755.2(TYMP):c.866A>C (p.Glu289Ala) http://identifiers.org/clinvar/16654 ^@ NM_001257988.1(TYMP):c.418_516del http://identifiers.org/clinvar/16655 ^@ NM_001113755.2(TYMP):c.433G>A (p.Gly145Arg) http://identifiers.org/clinvar/16656 ^@ NM_001257988.1(TYMP):c.665A>G (p.Lys222Arg) http://identifiers.org/clinvar/16657 ^@ NM_001257988.1(TYMP):c.1410dupC (p.Ser471Leufs) http://identifiers.org/clinvar/16658 ^@ NM_001953.4(TYMP):c.1160_1300del http://identifiers.org/clinvar/16659 ^@ NM_001257988.1(TYMP):c.1193_1198delCGCTGG (p.Ala398_Leu399del) http://identifiers.org/clinvar/16660 ^@ NM_001113755.2(TYMP):c.457G>A (p.Gly153Ser) http://identifiers.org/clinvar/16661 ^@ NM_001113755.2(TYMP):c.131G>A (p.Arg44Gln) http://identifiers.org/clinvar/16662 ^@ NM_001953.4(TYMP):c.215_417del http://identifiers.org/clinvar/16663 ^@ NM_001953.4(TYMP):c.622G>A (p.Val208Met) http://identifiers.org/clinvar/16664 ^@ NM_001113755.2(TYMP):c.931G>C (p.Gly311Arg) http://identifiers.org/clinvar/16665 ^@ NM_001113755.2(TYMP):c.605G>C (p.Arg202Thr) http://identifiers.org/clinvar/16666 ^@ NM_001113755.2(TYMP):c.854T>C (p.Leu285Pro) http://identifiers.org/clinvar/16667 ^@ NM_000450.2(SELE):c.1402C>T (p.His468Tyr) http://identifiers.org/clinvar/16668 ^@ NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) http://identifiers.org/clinvar/16669 ^@ ENG, 39-BP DEL, NT882 http://identifiers.org/clinvar/16670 ^@ ENG, 2-BP DEL, NT1153 http://identifiers.org/clinvar/16671 ^@ ENG, IVS3DS, A-G, +4 http://identifiers.org/clinvar/16672 ^@ ENG, IVS3DS, G-A, +1 http://identifiers.org/clinvar/16673 ^@ NM_000118.3(ENG):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/16674 ^@ NM_000118.3(ENG):c.1238G>T (p.Gly413Val) http://identifiers.org/clinvar/16675 ^@ ENG, IVS1DS, G-A, +1 http://identifiers.org/clinvar/16676 ^@ NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) http://identifiers.org/clinvar/16677 ^@ NM_130799.2(MEN1):c.65T>G (p.Leu22Arg) http://identifiers.org/clinvar/16681 ^@ NM_130799.2(MEN1):c.402delC (p.Phe134Leufs) http://identifiers.org/clinvar/16682 ^@ NM_000244.3(MEN1):c.608G>A (p.Trp203Ter) http://identifiers.org/clinvar/16685 ^@ NM_130799.2(MEN1):c.1087_1089delGAG (p.Glu363del) http://identifiers.org/clinvar/16686 ^@ NM_130799.2(MEN1):c.1306T>A (p.Trp436Arg) http://identifiers.org/clinvar/16687 ^@ NM_000244.3(MEN1):c.1322G>A (p.Trp441Ter) http://identifiers.org/clinvar/16688 ^@ NM_130799.2(MEN1):c.1579C>T (p.Arg527Ter) http://identifiers.org/clinvar/16689 ^@ NM_000244.3(MEN1):c.76G>A (p.Glu26Lys) http://identifiers.org/clinvar/16690 ^@ NM_130799.2(MEN1):c.778C>T (p.Gln260Ter) http://identifiers.org/clinvar/16691 ^@ MEN1, 1-BP INS, 1650C http://identifiers.org/clinvar/16692 ^@ NM_130799.2(MEN1):c.1378C>T (p.Arg460Ter) http://identifiers.org/clinvar/16693 ^@ NM_130799.2(MEN1):c.249_252delGTCT (p.Ile85Serfs) http://identifiers.org/clinvar/16694 ^@ NM_000244.3(MEN1):c.403A>T (p.Lys135Ter) http://identifiers.org/clinvar/16695 ^@ NM_000244.3(MEN1):c.1089_1090delGGinsAA (p.Glu364Lys) http://identifiers.org/clinvar/16696 ^@ NM_000244.3(MEN1):c.778G>A (p.Glu260Lys) http://identifiers.org/clinvar/16697 ^@ NM_000244.3(MEN1):c.566T>A (p.Val189Glu) http://identifiers.org/clinvar/16698 ^@ NM_000244.3(MEN1):c.1669A>T (p.Thr557Ser) http://identifiers.org/clinvar/16699 ^@ NM_000244.3(MEN1):c.415C>G (p.His139Asp) http://identifiers.org/clinvar/16700 ^@ MEN1, IVS4, G-A, -9 http://identifiers.org/clinvar/16701 ^@ MEN1, 3-BP DEL, 2641GAA http://identifiers.org/clinvar/16702 ^@ MEN1, 4-BP DEL, 4480CAGT http://identifiers.org/clinvar/16703 ^@ NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) http://identifiers.org/clinvar/16704 ^@ MEN1, 1-BP DEL, 7773C http://identifiers.org/clinvar/16705 ^@ NM_000244.3(MEN1):c.1077C>A (p.Cys359Ter) http://identifiers.org/clinvar/16706 ^@ MEN1, 6-BP INS, NT879 http://identifiers.org/clinvar/16707 ^@ NM_130803.2(MEN1):c.1365+1G>A http://identifiers.org/clinvar/16708 ^@ MEN1, 12-BP DEL, NT1466 http://identifiers.org/clinvar/16709 ^@ MEN1, 1-BP INS, 1657C http://identifiers.org/clinvar/16710 ^@ MEN1, IVS5, G-A, +1 http://identifiers.org/clinvar/16711 ^@ NM_203342.2(EPB41):c.-159_159del http://identifiers.org/clinvar/16712 ^@ NM_004437.3(EPB41):c.1219_1587del369 http://identifiers.org/clinvar/16713 ^@ NM_004437.3(EPB41):c.1219_1458del240 http://identifiers.org/clinvar/16714 ^@ NM_203342.2(EPB41):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/16715 ^@ NM_203342.2(EPB41):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/16716 ^@ NM_001985.2(ETFB):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/16717 ^@ ETFB, 1-EX DEL, IVSDS, +1, G-C http://identifiers.org/clinvar/16718 ^@ NM_001985.2(ETFB):c.382G>A (p.Asp128Asn) http://identifiers.org/clinvar/16719 ^@ ELN, 100-KB DEL http://identifiers.org/clinvar/16720 ^@ ELN, 30-KB DEL http://identifiers.org/clinvar/16721 ^@ ELN, IVS15AS, A-G, -2 http://identifiers.org/clinvar/16722 ^@ NM_000501.3(ELN):c.1324C>T (p.Gln442Ter) http://identifiers.org/clinvar/16723 ^@ NM_000501.3(ELN):c.1621C>T (p.Arg541Ter) http://identifiers.org/clinvar/16724 ^@ ELN, 1-BP DEL, 1821C http://identifiers.org/clinvar/16725 ^@ ELN, 1-BP INS, FS615TER http://identifiers.org/clinvar/16726 ^@ ELN, 1-BP DEL, 2012G http://identifiers.org/clinvar/16727 ^@ ELN, 1-BP DEL, 748A http://identifiers.org/clinvar/16728 ^@ ELN, 1-BP DEL, 2039C http://identifiers.org/clinvar/16729 ^@ ELN, IVS15AS, C-G, -3 http://identifiers.org/clinvar/16730 ^@ ELN, 1-BP DEL, 1040C http://identifiers.org/clinvar/16731 ^@ NM_000501.3(ELN):c.450C>G (p.Tyr150Ter) http://identifiers.org/clinvar/16732 ^@ NM_000501.3(ELN):c.526A>T (p.Lys176Ter) http://identifiers.org/clinvar/16733 ^@ ELN, ARG610GLN AND 24-BP DUP, NT1034 http://identifiers.org/clinvar/16734 ^@ ELN, EX9-33DUP http://identifiers.org/clinvar/16735 ^@ ELN, 25-BP DEL, NT2114 http://identifiers.org/clinvar/16736 ^@ ELN, 1-BP DEL, 2159C http://identifiers.org/clinvar/16737 ^@ ELN, 1621C-T http://identifiers.org/clinvar/16738 ^@ NM_001972.3(ELANE):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/16739 ^@ NM_001972.3(ELANE):c.618G>T (p.Leu206Phe) http://identifiers.org/clinvar/16740 ^@ NM_001972.3(ELANE):c.182C>T (p.Ala61Val) http://identifiers.org/clinvar/16741 ^@ ELANE, IVS4DS, G-A, +1 http://identifiers.org/clinvar/16742 ^@ ELANE, IVS4DS, G-A, +5 http://identifiers.org/clinvar/16743 ^@ NM_001972.3(ELANE):c.416C>T (p.Pro139Leu) http://identifiers.org/clinvar/16744 ^@ NM_001972.3(ELANE):c.214G>A (p.Val72Met) http://identifiers.org/clinvar/16745 ^@ NM_001972.3(ELANE):c.377C>T (p.Ser126Leu) http://identifiers.org/clinvar/16746 ^@ NM_001972.3(ELANE):c.211T>C (p.Cys71Arg) http://identifiers.org/clinvar/242775 ^@ NM_001972.3(ELANE):c.292G>T (p.Val98Leu) http://identifiers.org/clinvar/16748 ^@ NM_001972.3(ELANE):c.640G>A (p.Gly214Arg) http://identifiers.org/clinvar/16749 ^@ NM_000399.4(EGR2):c.803T>A (p.Ile268Asn) http://identifiers.org/clinvar/16750 ^@ NM_000399.4(EGR2):c.1225C>T (p.Arg409Trp) http://identifiers.org/clinvar/38873 ^@ NM_000399.4(EGR2):c.1146T>G (p.Ser382Arg) http://identifiers.org/clinvar/16752 ^@ NM_000399.4(EGR2):c.1075C>T (p.Arg359Trp) http://identifiers.org/clinvar/16753 ^@ NM_000399.4(EGR2):c.1234G>A (p.Glu412Lys) http://identifiers.org/clinvar/16754 ^@ NM_000111.2(SLC26A3):c.951_953delGGT (p.Val318del) http://identifiers.org/clinvar/16755 ^@ NM_000111.2(SLC26A3):c.371A>T (p.His124Leu) http://identifiers.org/clinvar/16756 ^@ SLC26A3, 1-BP DEL, T344 http://identifiers.org/clinvar/16757 ^@ SLC26A3, 3.5-KB DEL http://identifiers.org/clinvar/16759 ^@ NM_000111.2(SLC26A3):c.559G>T (p.Gly187Ter) http://identifiers.org/clinvar/16760 ^@ SLC26A3, 13-BP DEL http://identifiers.org/clinvar/16761 ^@ NM_000111.2(SLC26A3):c.1386G>A (p.Trp462Ter) http://identifiers.org/clinvar/16762 ^@ SLC6A3*9 http://identifiers.org/clinvar/16763 ^@ NM_001044.4(SLC6A3):c.1103T>A (p.Leu368Gln) http://identifiers.org/clinvar/16764 ^@ NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu) http://identifiers.org/clinvar/16765 ^@ DRD5, (CT/GT/GA)n http://identifiers.org/clinvar/16766 ^@ DRD5, (CA)n MARKER http://identifiers.org/clinvar/16767 ^@ NM_000797.3(DRD4):c.235_247delGCCGACCTCCTCC (p.Ala79Serfs) http://identifiers.org/clinvar/16768 ^@ NM_000797.3(DRD4):c.581T>G (p.Val194Gly) http://identifiers.org/clinvar/16769 ^@ DRD4, 120-BP INS http://identifiers.org/clinvar/16770 ^@ NM_000796.5(DRD3):c.25G>A (p.Gly9Ser) http://identifiers.org/clinvar/16771 ^@ NM_000795.3(DRD2):c.460G>A (p.Val154Ile) http://identifiers.org/clinvar/16772 ^@ NM_001067.3(TOP2A):c.1460G>A (p.Arg487Lys) http://identifiers.org/clinvar/242774 ^@ NM_003286.3(TOP1):c.1598A>G (p.Asp533Gly) http://identifiers.org/clinvar/16774 ^@ NM_003286.3(TOP1):c.1252G>A (p.Glu418Lys) http://identifiers.org/clinvar/16775 ^@ NM_000234.2(LIG1):c.1696G>A (p.Glu566Lys) http://identifiers.org/clinvar/16776 ^@ NM_000234.2(LIG1):c.2311C>T (p.Arg771Trp) http://identifiers.org/clinvar/16777 ^@ NM_001983.3(ERCC1):c.472C>T (p.Gln158Ter) http://identifiers.org/clinvar/16778 ^@ NM_202001.2(ERCC1):c.693C>G (p.Phe231Leu) http://identifiers.org/clinvar/16779 ^@ NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) http://identifiers.org/clinvar/16780 ^@ NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter) http://identifiers.org/clinvar/16781 ^@ NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) http://identifiers.org/clinvar/16782 ^@ ERCC2, 4-BP DEL, NT668 http://identifiers.org/clinvar/16783 ^@ NM_000400.3(ERCC2):c.1621A>C (p.Ser541Arg) http://identifiers.org/clinvar/16784 ^@ NM_000400.3(ERCC2):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/16785 ^@ NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) http://identifiers.org/clinvar/16786 ^@ NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) http://identifiers.org/clinvar/16787 ^@ NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) http://identifiers.org/clinvar/16788 ^@ NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) http://identifiers.org/clinvar/16789 ^@ ERCC2, 2-BP DEL, 1781TT http://identifiers.org/clinvar/16790 ^@ ERCC2, 3-BP DEL/6-BP INS, NT1823 http://identifiers.org/clinvar/16791 ^@ NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro) http://identifiers.org/clinvar/16792 ^@ NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) http://identifiers.org/clinvar/16793 ^@ NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) http://identifiers.org/clinvar/16794 ^@ NM_001039350.2(DPP6):c.52-141059C>T http://identifiers.org/clinvar/16795 ^@ NM_000281.3(PCBD1):c.259G>T (p.Glu87Ter) http://identifiers.org/clinvar/16796 ^@ NM_000281.3(PCBD1):c.244T>C (p.Cys82Arg) http://identifiers.org/clinvar/16797 ^@ NM_000281.3(PCBD1):c.236C>T (p.Thr79Ile) http://identifiers.org/clinvar/16799 ^@ NM_000281.3(PCBD1):c.292C>T (p.Gln98Ter) http://identifiers.org/clinvar/16800 ^@ NM_001361.4(DHODH):c.1036C>T (p.Arg346Trp) http://identifiers.org/clinvar/16801 ^@ NM_001361.4(DHODH):c.403C>T (p.Arg135Cys) http://identifiers.org/clinvar/16802 ^@ NM_001361.4(DHODH):c.56G>A (p.Gly19Glu) http://identifiers.org/clinvar/16803 ^@ NM_001361.4(DHODH):c.454G>A (p.Gly152Arg) http://identifiers.org/clinvar/16804 ^@ NM_001361.4(DHODH):c.605G>C (p.Gly202Ala) http://identifiers.org/clinvar/16805 ^@ NM_001361.4(DHODH):c.605G>A (p.Gly202Asp) http://identifiers.org/clinvar/16806 ^@ NM_001361.4(DHODH):c.730C>T (p.Arg244Trp) http://identifiers.org/clinvar/16807 ^@ DHODH, 1-BP DEL, 611T http://identifiers.org/clinvar/16808 ^@ NM_001361.4(DHODH):c.595C>T (p.Arg199Cys) http://identifiers.org/clinvar/16809 ^@ NM_000903.2(NQO1):c.559C>T (p.Pro187Ser) http://identifiers.org/clinvar/16810 ^@ NM_001943.4(DSG2):c.146G>A (p.Arg49His) http://identifiers.org/clinvar/16811 ^@ NM_001943.4(DSG2):c.918G>A (p.Trp306Ter) http://identifiers.org/clinvar/16812 ^@ NM_001943.4(DSG2):c.137G>A (p.Arg46Gln) http://identifiers.org/clinvar/16813 ^@ NM_001943.4(DSG2):c.1520G>A (p.Cys507Tyr) http://identifiers.org/clinvar/16814 ^@ NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys) http://identifiers.org/clinvar/16815 ^@ NM_001943.4(DSG2):c.797A>G (p.Asn266Ser) http://identifiers.org/clinvar/16816 ^@ NM_001943.4(DSG2):c.991G>A (p.Glu331Lys) http://identifiers.org/clinvar/16817 ^@ NM_001943.4(DSG2):c.1880-2A>G http://identifiers.org/clinvar/16818 ^@ NM_001943.4(DSG2):c.166G>A (p.Val56Met) http://identifiers.org/clinvar/16819 ^@ DSG1, IVS2AS, G-A, -1 http://identifiers.org/clinvar/16820 ^@ NM_001927.3(DES):c.1009G>C (p.Ala337Pro) http://identifiers.org/clinvar/16821 ^@ NM_001927.3(DES):c.1078G>C (p.Ala360Pro) http://identifiers.org/clinvar/16822 ^@ NM_001927.3(DES):c.1178A>T (p.Asn393Ile) http://identifiers.org/clinvar/16823 ^@ NM_001927.3(DES):c.517_537del21 (p.Ala174_Arg180del) http://identifiers.org/clinvar/16824 ^@ NM_001927.3(DES):c.1353C>G (p.Ile451Met) http://identifiers.org/clinvar/16825 ^@ NM_001927.3(DES):c.1034T>C (p.Leu345Pro) http://identifiers.org/clinvar/16826 ^@ NM_001927.3(DES):c.1216C>T (p.Arg406Trp) http://identifiers.org/clinvar/16827 ^@ DES, IVS3, A-G, +3 http://identifiers.org/clinvar/16828 ^@ DES, IVS2, G-A, -1 http://identifiers.org/clinvar/16829 ^@ NM_001927.3(DES):c.1154T>C (p.Leu385Pro) http://identifiers.org/clinvar/16830 ^@ NM_001927.3(DES):c.1166A>C (p.Gln389Pro) http://identifiers.org/clinvar/16831 ^@ DES, GLU359-ALA360-SER361 DEL http://identifiers.org/clinvar/16832 ^@ NM_001927.3(DES):c.1096_1098delAAC (p.Asn366del) http://identifiers.org/clinvar/16833 ^@ DES, 3-BP DEL, 720GAA http://identifiers.org/clinvar/16834 ^@ NM_001927.3(DES):c.1325C>T (p.Thr442Ile) http://identifiers.org/clinvar/16835 ^@ NM_001927.3(DES):c.1049G>C (p.Arg350Pro) http://identifiers.org/clinvar/16836 ^@ NM_004415.3(DSP):c.991C>T (p.Gln331Ter) http://identifiers.org/clinvar/16837 ^@ NM_004415.3(DSP):c.7623delG (p.Lys2542Serfs) http://identifiers.org/clinvar/16838 ^@ NM_004415.3(DSP):c.897C>G (p.Ser299Arg) http://identifiers.org/clinvar/16839 ^@ NM_004415.3(DSP):c.861T>G (p.Asn287Lys) http://identifiers.org/clinvar/16840 ^@ NM_004415.3(DSP):c.2427T>A (p.Cys809Ter) http://identifiers.org/clinvar/16841 ^@ NM_004415.3(DSP):c.7096C>T (p.Arg2366Cys) http://identifiers.org/clinvar/16842 ^@ NM_004415.3(DSP):c.1990C>T (p.Gln664Ter) http://identifiers.org/clinvar/16843 ^@ NM_004415.3(DSP):c.5800C>T (p.Arg1934Ter) http://identifiers.org/clinvar/16844 ^@ NM_004415.3(DSP):c.6091_6092delTT (p.Leu2031Glyfs) http://identifiers.org/clinvar/16845 ^@ NM_004415.3(DSP):c.3799C>T (p.Arg1267Ter) http://identifiers.org/clinvar/16846 ^@ NM_004415.3(DSP):c.88G>A (p.Val30Met) http://identifiers.org/clinvar/16847 ^@ NM_004415.3(DSP):c.8501G>A (p.Arg2834His) http://identifiers.org/clinvar/16848 ^@ NM_004949.4(DSC2):c.1430delC (p.Thr477Metfs) http://identifiers.org/clinvar/16850 ^@ NM_024422.4(DSC2):c.631-2A>G http://identifiers.org/clinvar/16851 ^@ NM_005223.3(DNASE1):c.13A>T (p.Lys5Ter) http://identifiers.org/clinvar/16852 ^@ NM_005223.3(DNASE1):c.731G>A (p.Arg244Gln) http://identifiers.org/clinvar/16853 ^@ NM_014208.3(DSPP):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/16854 ^@ DSPP, IVS3DS, G-A, +1 http://identifiers.org/clinvar/16855 ^@ NM_014208.3(DSPP):c.49C>A (p.Pro17Thr) http://identifiers.org/clinvar/16856 ^@ NM_014208.3(DSPP):c.52G>T (p.Val18Phe) http://identifiers.org/clinvar/16857 ^@ NM_014208.3(DSPP):c.16T>G (p.Tyr6Asp) http://identifiers.org/clinvar/16858 ^@ NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) http://identifiers.org/clinvar/16859 ^@ NM_014208.3(DSPP):c.44C>T (p.Ala15Val) http://identifiers.org/clinvar/16860 ^@ DSPP, 1-BP DEL, 2040C http://identifiers.org/clinvar/16861 ^@ DSPP, 1-BP DEL, 3438C http://identifiers.org/clinvar/16862 ^@ NM_000031.5(ALAD):c.397G>A (p.Gly133Arg) http://identifiers.org/clinvar/16863 ^@ NM_000031.5(ALAD):c.823G>A (p.Val275Met) http://identifiers.org/clinvar/16864 ^@ NM_000031.5(ALAD):c.177G>C (p.Lys59Asn) http://identifiers.org/clinvar/16865 ^@ NM_000031.5(ALAD):c.718C>T (p.Arg240Trp) http://identifiers.org/clinvar/16866 ^@ NM_000031.5(ALAD):c.820G>A (p.Ala274Thr) http://identifiers.org/clinvar/16867 ^@ NM_000031.5(ALAD):c.36C>G (p.Phe12Leu) http://identifiers.org/clinvar/16868 ^@ ALAD, IVS3AS, C-A, -11 http://identifiers.org/clinvar/16869 ^@ NM_000031.5(ALAD):c.165-11C>T http://identifiers.org/clinvar/16870 ^@ NM_001920.4(DCN):c.967delT (p.Ser323Leufs) http://identifiers.org/clinvar/16871 ^@ NM_000574.4(CD55):c.261G>A (p.Trp87Ter) http://identifiers.org/clinvar/16872 ^@ CD55, 26-BP DEL http://identifiers.org/clinvar/16873 ^@ IL10, -592C-A http://identifiers.org/clinvar/16874 ^@ NG_012088.1:g.2209A>G http://identifiers.org/clinvar/16875 ^@ NM_001863.4(COX6B1):c.59G>A (p.Arg20His) http://identifiers.org/clinvar/242773 ^@ NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp) http://identifiers.org/clinvar/242772 ^@ NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) http://identifiers.org/clinvar/16878 ^@ CYP11B2, 5-BP DEL http://identifiers.org/clinvar/16879 ^@ NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) http://identifiers.org/clinvar/16880 ^@ NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) http://identifiers.org/clinvar/16881 ^@ NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) http://identifiers.org/clinvar/16882 ^@ CYP11B2, 6-BP DUP, CODON 143 http://identifiers.org/clinvar/16883 ^@ NM_000498.3(CYP11B2):c.-344T= http://identifiers.org/clinvar/16884 ^@ CYP11B2, IVS2 CONVERSION http://identifiers.org/clinvar/16885 ^@ NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala) http://identifiers.org/clinvar/16886 ^@ NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter) http://identifiers.org/clinvar/16888 ^@ NM_000773.3(CYP2E1):c.967+1143T>A http://identifiers.org/clinvar/16889 ^@ NM_000106.5(CYP2D6):c.506-1G>A http://identifiers.org/clinvar/16890 ^@ CYP2D6*5 http://identifiers.org/clinvar/16891 ^@ NM_000106.5(CYP2D6):c.454delT (p.Trp152Glyfs) http://identifiers.org/clinvar/16892 ^@ NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) http://identifiers.org/clinvar/16893 ^@ NM_000106.5(CYP2D6):c.100C>T (p.Pro34Ser) http://identifiers.org/clinvar/16894 ^@ NM_000106.5(CYP2D6):c.775delA (p.Arg259Glyfs) http://identifiers.org/clinvar/242771 ^@ NM_000106.5(CYP2D6):c.886C>T (p.Arg296Cys) http://identifiers.org/clinvar/16896 ^@ NC_000022.11:g.(?_42126499)_(42130881_?)dup http://identifiers.org/clinvar/16897 ^@ NM_000769.1(CYP2C19):c.681G>A (p.Pro227=) http://identifiers.org/clinvar/16898 ^@ NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp) http://identifiers.org/clinvar/16899 ^@ NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) http://identifiers.org/clinvar/16900 ^@ NM_000769.1(CYP2C19):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/16901 ^@ NM_000941.2(POR):c.1475T>A (p.Val492Glu) http://identifiers.org/clinvar/16902 ^@ NM_000941.2(POR):c.859G>C (p.Ala287Pro) http://identifiers.org/clinvar/16903 ^@ NM_000941.2(POR):c.1706G>A (p.Cys569Tyr) http://identifiers.org/clinvar/16904 ^@ NM_000941.2(POR):c.1822G>T (p.Val608Phe) http://identifiers.org/clinvar/16905 ^@ NM_000941.2(POR):c.731+1G>A http://identifiers.org/clinvar/16906 ^@ NM_000941.2(POR):c.541T>G (p.Tyr181Asp) http://identifiers.org/clinvar/16907 ^@ NM_000941.2(POR):c.1370G>A (p.Arg457His) http://identifiers.org/clinvar/16910 ^@ NM_000941.2(POR):c.1329dupC (p.Ile444Hisfs) http://identifiers.org/clinvar/16911 ^@ NM_000941.2(POR):c.1733A>G (p.Tyr578Cys) http://identifiers.org/clinvar/16912 ^@ NM_000941.2(POR):c.1835_1858del24 (p.Leu612_Trp620delinsArg) http://identifiers.org/clinvar/16913 ^@ NM_000941.2(POR):c.15A>G (p.Gly5=) http://identifiers.org/clinvar/16914 ^@ NM_000941.2(POR):c.568_580dupTACGTGGACAAGC (p.Arg194Leufs) http://identifiers.org/clinvar/16915 ^@ NM_000941.2(POR):c.1615G>A (p.Gly539Arg) http://identifiers.org/clinvar/16916 ^@ NM_017460.5(CYP3A4):c.-392G>A http://identifiers.org/clinvar/16917 ^@ NM_018947.5(CYCS):c.124G>A (p.Gly42Ser) http://identifiers.org/clinvar/16918 ^@ NM_002272.3(KRT4):c.438_440delCAA (p.Asn146del) http://identifiers.org/clinvar/16919 ^@ NM_002272.3(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) http://identifiers.org/clinvar/16920 ^@ NM_002272.3(KRT4):c.1303G>A (p.Glu435Lys) http://identifiers.org/clinvar/16921 ^@ NM_005214.4(CTLA4):c.49A>G (p.Thr17Ala) http://identifiers.org/clinvar/16922 ^@ CTLA4, 60A-G, 3-PRIME UTR http://identifiers.org/clinvar/16923 ^@ NM_000628.4(IL10RB):c.139A>G (p.Lys47Glu) http://identifiers.org/clinvar/16924 ^@ NM_000628.4(IL10RB):c.477G>A (p.Trp159Ter) http://identifiers.org/clinvar/16925 ^@ NM_000942.4(PPIB):c.556_559delAAGA (p.Lys186Glnfs) http://identifiers.org/clinvar/16926 ^@ NM_000942.4(PPIB):c.451C>T (p.Gln151Ter) http://identifiers.org/clinvar/16927 ^@ NM_000942.4(PPIB):c.26T>G (p.Met9Arg) http://identifiers.org/clinvar/16928 ^@ NM_000075.3(CDK4):c.70C>T (p.Arg24Cys) http://identifiers.org/clinvar/16929 ^@ NM_000075.3(CDK4):c.71G>A (p.Arg24His) http://identifiers.org/clinvar/16930 ^@ NM_001142564.1(CNGA1):c.445G>T (p.Glu149Ter) http://identifiers.org/clinvar/16931 ^@ NM_001142564.1(CNGA1):c.634A>T (p.Lys212Ter) http://identifiers.org/clinvar/16932 ^@ NM_000087.3(CNGA1):c.959C>T (p.Ser320Phe) http://identifiers.org/clinvar/16933 ^@ CNGA1, 1-BP DEL, FS655TER http://identifiers.org/clinvar/16934 ^@ NM_001888.4(CRYM):c.945A>T (p.Ter315Tyr) http://identifiers.org/clinvar/16935 ^@ NM_001888.4(CRYM):c.941A>C (p.Lys314Thr) http://identifiers.org/clinvar/16936 ^@ NM_017541.3(CRYGS):c.53G>T (p.Gly18Val) http://identifiers.org/clinvar/16937 ^@ NM_006891.3(CRYGD):c.43C>T (p.Arg15Cys) http://identifiers.org/clinvar/16938 ^@ NM_006891.3(CRYGD):c.176G>A (p.Arg59His) http://identifiers.org/clinvar/16939 ^@ NM_006891.3(CRYGD):c.109C>A (p.Arg37Ser) http://identifiers.org/clinvar/16940 ^@ NM_006891.3(CRYGD):c.70C>A (p.Pro24Thr) http://identifiers.org/clinvar/16941 ^@ NM_006891.3(CRYGD):c.470G>A (p.Trp157Ter) http://identifiers.org/clinvar/16942 ^@ NM_006891.3(CRYGD):c.70C>T (p.Pro24Ser) http://identifiers.org/clinvar/16943 ^@ NM_020989.3(CRYGC):c.13A>C (p.Thr5Pro) http://identifiers.org/clinvar/16944 ^@ CRYGC, 5-BP DUP, NT226 http://identifiers.org/clinvar/16945 ^@ NM_020989.3(CRYGC):c.502C>T (p.Arg168Trp) http://identifiers.org/clinvar/16946 ^@ NM_001886.2(CRYBA4):c.281T>C (p.Phe94Ser) http://identifiers.org/clinvar/16947 ^@ NM_001886.2(CRYBA4):c.206T>C (p.Leu69Pro) http://identifiers.org/clinvar/16948 ^@ NM_004076.4(CRYBB3):c.493G>C (p.Gly165Arg) http://identifiers.org/clinvar/16949 ^@ NM_000496.2(CRYBB2):c.463C>T (p.Gln155Ter) http://identifiers.org/clinvar/16950 ^@ CRYBB2, 483C-T http://identifiers.org/clinvar/16951 ^@ CRYBA1, IVS3DS, G-A, +1 http://identifiers.org/clinvar/16952 ^@ CRYBA1, 3-BP DEL, 278GGA http://identifiers.org/clinvar/16953 ^@ NM_001885.2(CRYAB):c.358A>G (p.Arg120Gly) http://identifiers.org/clinvar/16954 ^@ CRYAB, 1-BP DEL, 450A http://identifiers.org/clinvar/16955 ^@ CRYAB, 2-BP DEL, 464CT http://identifiers.org/clinvar/16956 ^@ NM_001885.2(CRYAB):c.451C>T (p.Gln151Ter) http://identifiers.org/clinvar/16957 ^@ NM_000394.3(CRYAA):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/16958 ^@ NM_000394.3(CRYAA):c.27G>A (p.Trp9Ter) http://identifiers.org/clinvar/16959 ^@ NM_000394.3(CRYAA):c.145C>T (p.Arg49Cys) http://identifiers.org/clinvar/16960 ^@ NM_000394.3(CRYAA):c.347G>A (p.Arg116His) http://identifiers.org/clinvar/16961 ^@ NM_002449.4(MSX2):c.443C>A (p.Pro148His) http://identifiers.org/clinvar/16962 ^@ MSX2, 6-BP DEL, NT475 http://identifiers.org/clinvar/16963 ^@ NM_002449.4(MSX2):c.515G>A (p.Arg172His) http://identifiers.org/clinvar/16964 ^@ nsv513767 http://identifiers.org/clinvar/16965 ^@ NM_002449.4(MSX2):c.265_266delGCinsTA (p.Ala89Ter) http://identifiers.org/clinvar/16966 ^@ NM_002449.4(MSX2):c.345delG (p.Trp115Terfs) http://identifiers.org/clinvar/16967 ^@ MSX2, 4-BP DUP, NT505 http://identifiers.org/clinvar/16968 ^@ MSX2, 8-BP DEL, NT548 http://identifiers.org/clinvar/16969 ^@ NM_000762.5(CYP2A6):c.479T>A (p.Leu160His) http://identifiers.org/clinvar/16970 ^@ CYP2A6*4A http://identifiers.org/clinvar/16971 ^@ NM_000762.5(CYP2A6):c.670T>C (p.Ser224Pro) http://identifiers.org/clinvar/16972 ^@ CYP2A6*3 http://identifiers.org/clinvar/16973 ^@ CYP2A6*12A http://identifiers.org/clinvar/16974 ^@ NM_001756.3(SERPINA6):c.344T>A (p.Leu115His) http://identifiers.org/clinvar/16975 ^@ NM_001756.3(SERPINA6):c.1165G>A (p.Asp389Asn) http://identifiers.org/clinvar/16976 ^@ SERPINA6, 121G-A http://identifiers.org/clinvar/16978 ^@ NM_021954.3(GJA3):c.188A>G (p.Asn63Ser) http://identifiers.org/clinvar/16979 ^@ GJA3, 1-BP INS, 1137C http://identifiers.org/clinvar/16980 ^@ NM_021954.3(GJA3):c.560C>T (p.Pro187Leu) http://identifiers.org/clinvar/16981 ^@ NM_021954.3(GJA3):c.227G>A (p.Arg76His) http://identifiers.org/clinvar/16982 ^@ NM_000165.4(GJA1):c.50A>C (p.Tyr17Ser) http://identifiers.org/clinvar/16983 ^@ NM_000165.4(GJA1):c.52T>C (p.Ser18Pro) http://identifiers.org/clinvar/16984 ^@ NM_000165.4(GJA1):c.61G>A (p.Gly21Arg) http://identifiers.org/clinvar/16985 ^@ NM_000165.4(GJA1):c.65G>A (p.Gly22Glu) http://identifiers.org/clinvar/16986 ^@ GJA1, 3-BP DUP, 154TTT http://identifiers.org/clinvar/16987 ^@ NM_000165.4(GJA1):c.427G>A (p.Gly143Ser) http://identifiers.org/clinvar/16988 ^@ NM_000165.4(GJA1):c.286G>A (p.Val96Met) http://identifiers.org/clinvar/16989 ^@ GJA1, 2-BP DEL, 780T-G http://identifiers.org/clinvar/16990 ^@ NM_000165.4(GJA1):c.1085G>A (p.Arg362Gln) http://identifiers.org/clinvar/16991 ^@ NM_000165.4(GJA1):c.1127G>A (p.Arg376Gln) http://identifiers.org/clinvar/16992 ^@ NM_000165.4(GJA1):c.581A>C (p.His194Pro) http://identifiers.org/clinvar/16993 ^@ NM_000165.4(GJA1):c.32T>C (p.Leu11Pro) http://identifiers.org/clinvar/16994 ^@ GJA1, 2-BP DEL, 679AT http://identifiers.org/clinvar/16995 ^@ NM_000165.4(GJA1):c.97C>T (p.Arg33Ter) http://identifiers.org/clinvar/16996 ^@ NM_000165.4(GJA1):c.227G>A (p.Arg76His) http://identifiers.org/clinvar/16997 ^@ NM_000165.4(GJA1):c.226C>A (p.Arg76Ser) http://identifiers.org/clinvar/16998 ^@ NM_005266.6(GJA5):c.286G>T (p.Ala96Ser) http://identifiers.org/clinvar/16999 ^@ NM_005266.6(GJA5):c.262C>T (p.Pro88Ser) http://identifiers.org/clinvar/17000 ^@ NM_004004.5(GJB2):c.101T>C (p.Met34Thr) http://identifiers.org/clinvar/94100 ^@ NM_003060.3(SLC22A5):c.349T>C (p.Trp117Arg) http://identifiers.org/clinvar/94101 ^@ NM_003060.3(SLC22A5):c.807A>G (p.Leu269=) http://identifiers.org/clinvar/94102 ^@ NM_003060.3(SLC22A5):c.824+13T>C http://identifiers.org/clinvar/94103 ^@ NM_003106.3(SOX2):c.651G>T (p.Met217Ile) http://identifiers.org/clinvar/94104 ^@ NM_003106.3(SOX2):c.70_89del20 (p.Asn24Argfs) http://identifiers.org/clinvar/94105 ^@ NM_003106.3(SOX2):c.834C>T (p.Leu278=) http://identifiers.org/clinvar/94106 ^@ NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) http://identifiers.org/clinvar/94107 ^@ NM_003159.2(CDKL5):c.180G>A (p.Glu60=) http://identifiers.org/clinvar/94108 ^@ NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) http://identifiers.org/clinvar/94109 ^@ NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) http://identifiers.org/clinvar/94110 ^@ NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) http://identifiers.org/clinvar/94111 ^@ NM_003159.2(CDKL5):c.3003C>T (p.His1001=) http://identifiers.org/clinvar/94112 ^@ NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) http://identifiers.org/clinvar/94113 ^@ NM_003159.2(CDKL5):c.533G>A (p.Arg178Gln) http://identifiers.org/clinvar/94114 ^@ NM_003159.2(CDKL5):c.555-19C>G http://identifiers.org/clinvar/94115 ^@ NM_003159.2(CDKL5):c.93A>G (p.Arg31=) http://identifiers.org/clinvar/94116 ^@ NM_003165.3(STXBP1):c.1004C>T (p.Pro335Leu) http://identifiers.org/clinvar/94117 ^@ NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) http://identifiers.org/clinvar/94118 ^@ NM_003165.3(STXBP1):c.325+8C>T http://identifiers.org/clinvar/94119 ^@ NM_003282.3(TNNI2):c.186+13C>T http://identifiers.org/clinvar/94120 ^@ NM_003282.3(TNNI2):c.60T>C (p.Ser20=) http://identifiers.org/clinvar/94121 ^@ NM_003289.3(TPM2):c.*7C>T http://identifiers.org/clinvar/94122 ^@ NM_003289.3(TPM2):c.*8G>A http://identifiers.org/clinvar/94123 ^@ NM_003289.3(TPM2):c.564-19dupC http://identifiers.org/clinvar/94124 ^@ NM_003289.3(TPM2):c.773-3dupC http://identifiers.org/clinvar/94125 ^@ NM_003289.3(TPM2):c.773-4_773-3dupCC http://identifiers.org/clinvar/94126 ^@ NM_003322.5(TULP1):c.539G>A (p.Arg180His) http://identifiers.org/clinvar/94127 ^@ NM_003322.5(TULP1):c.783G>C (p.Lys261Asn) http://identifiers.org/clinvar/94128 ^@ NM_003322.5(TULP1):c.797G>T (p.Gly266Val) http://identifiers.org/clinvar/94129 ^@ NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) http://identifiers.org/clinvar/94130 ^@ NM_003361.3(UMOD):c.522C>T (p.Cys174=) http://identifiers.org/clinvar/94131 ^@ NM_003361.3(UMOD):c.792G>A (p.Val264=) http://identifiers.org/clinvar/94132 ^@ NM_003361.3(UMOD):c.885G>A (p.Gly295=) http://identifiers.org/clinvar/94133 ^@ NM_003361.3(UMOD):c.944G>A (p.Cys315Tyr) http://identifiers.org/clinvar/94134 ^@ NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) http://identifiers.org/clinvar/94135 ^@ NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) http://identifiers.org/clinvar/94136 ^@ NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) http://identifiers.org/clinvar/94137 ^@ NM_003482.3(KMT2D):c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) http://identifiers.org/clinvar/94138 ^@ NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) http://identifiers.org/clinvar/94139 ^@ NM_003482.3(KMT2D):c.10740G>A (p.Gln3580=) http://identifiers.org/clinvar/94140 ^@ NM_003482.3(KMT2D):c.10819C>T (p.Gln3607Ter) http://identifiers.org/clinvar/94141 ^@ NM_003482.3(KMT2D):c.10834C>T (p.Gln3612Ter) http://identifiers.org/clinvar/94142 ^@ NM_003482.3(KMT2D):c.10836G>A (p.Gln3612=) http://identifiers.org/clinvar/94143 ^@ NM_003482.3(KMT2D):c.11037A>G (p.Gln3679=) http://identifiers.org/clinvar/94144 ^@ NM_003482.3(KMT2D):c.1112+19C>T http://identifiers.org/clinvar/94145 ^@ NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) http://identifiers.org/clinvar/94146 ^@ NM_003482.3(KMT2D):c.11149C>T (p.Gln3717Ter) http://identifiers.org/clinvar/94147 ^@ NM_003482.3(KMT2D):c.11150A>C (p.Gln3717Pro) http://identifiers.org/clinvar/94148 ^@ NM_003482.3(KMT2D):c.11201_11202delTG (p.Leu3734Profs) http://identifiers.org/clinvar/94149 ^@ NM_003482.3(KMT2D):c.1120C>A (p.Pro374Thr) http://identifiers.org/clinvar/94150 ^@ NM_003482.3(KMT2D):c.11220_11222dupGCA (p.Gln3745_His3746insGln) http://identifiers.org/clinvar/94151 ^@ NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) http://identifiers.org/clinvar/94152 ^@ NM_003482.3(KMT2D):c.11729_11734delAGCAAC (p.Gln3910_Gln3911del) http://identifiers.org/clinvar/94153 ^@ NM_003482.3(KMT2D):c.1187C>G (p.Pro396Arg) http://identifiers.org/clinvar/94154 ^@ NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) http://identifiers.org/clinvar/94155 ^@ NM_003482.3(KMT2D):c.12172A>G (p.Met4058Val) http://identifiers.org/clinvar/94156 ^@ NM_003482.3(KMT2D):c.12406C>T (p.Gln4136Ter) http://identifiers.org/clinvar/94157 ^@ NM_003482.3(KMT2D):c.12430C>T (p.Gln4144Ter) http://identifiers.org/clinvar/94158 ^@ NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) http://identifiers.org/clinvar/94159 ^@ NM_003482.3(KMT2D):c.12579G>A (p.Thr4193=) http://identifiers.org/clinvar/94160 ^@ NM_003482.3(KMT2D):c.12712C>T (p.Arg4238Cys) http://identifiers.org/clinvar/94161 ^@ NM_003482.3(KMT2D):c.12867C>T (p.Leu4289=) http://identifiers.org/clinvar/94162 ^@ NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) http://identifiers.org/clinvar/94163 ^@ NM_003482.3(KMT2D):c.1300dupC (p.Leu434Profs) http://identifiers.org/clinvar/94164 ^@ NM_003482.3(KMT2D):c.13032delC (p.Lys4345Asnfs) http://identifiers.org/clinvar/94165 ^@ NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) http://identifiers.org/clinvar/94166 ^@ NM_003482.3(KMT2D):c.13587C>A (p.Ser4529Arg) http://identifiers.org/clinvar/94167 ^@ NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) http://identifiers.org/clinvar/94168 ^@ NM_003482.3(KMT2D):c.13671+10dupC http://identifiers.org/clinvar/94169 ^@ NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) http://identifiers.org/clinvar/94170 ^@ NM_003482.3(KMT2D):c.13740C>G (p.Gly4580=) http://identifiers.org/clinvar/94171 ^@ NM_003482.3(KMT2D):c.14185C>T (p.Arg4729Trp) http://identifiers.org/clinvar/94172 ^@ NM_003482.3(KMT2D):c.14238G>A (p.Arg4746=) http://identifiers.org/clinvar/94173 ^@ NM_003482.3(KMT2D):c.14251+18T>C http://identifiers.org/clinvar/94174 ^@ NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) http://identifiers.org/clinvar/94175 ^@ NM_003482.3(KMT2D):c.14580dupT (p.Asp4861Terfs) http://identifiers.org/clinvar/94176 ^@ NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter) http://identifiers.org/clinvar/94177 ^@ NM_003482.3(KMT2D):c.15030dupA (p.Glu5011Argfs) http://identifiers.org/clinvar/94178 ^@ NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) http://identifiers.org/clinvar/94179 ^@ NM_003482.3(KMT2D):c.15104G>C (p.Cys5035Ser) http://identifiers.org/clinvar/94180 ^@ NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) http://identifiers.org/clinvar/94181 ^@ NM_003482.3(KMT2D):c.15163_15168delGACCTG (p.Asp5055_Leu5056del) http://identifiers.org/clinvar/94182 ^@ NM_003482.3(KMT2D):c.15230T>G (p.Leu5077Arg) http://identifiers.org/clinvar/94183 ^@ NM_003482.3(KMT2D):c.15273G>A (p.Lys5091=) http://identifiers.org/clinvar/94184 ^@ NM_003482.3(KMT2D):c.15640C>A (p.Arg5214Ser) http://identifiers.org/clinvar/94185 ^@ NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) http://identifiers.org/clinvar/94186 ^@ NM_003482.3(KMT2D):c.15649T>C (p.Trp5217Arg) http://identifiers.org/clinvar/94187 ^@ NM_003482.3(KMT2D):c.15787G>A (p.Val5263Met) http://identifiers.org/clinvar/94188 ^@ NM_003482.3(KMT2D):c.15953_15956delTATT (p.Leu5318Serfs) http://identifiers.org/clinvar/94189 ^@ NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) http://identifiers.org/clinvar/94190 ^@ NM_003482.3(KMT2D):c.16109delG (p.Gly5370Alafs) http://identifiers.org/clinvar/94191 ^@ NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) http://identifiers.org/clinvar/94192 ^@ NM_003482.3(KMT2D):c.16306_16322del17insC (p.Ala5436Glnfs) http://identifiers.org/clinvar/94193 ^@ NM_003482.3(KMT2D):c.16412+16delG http://identifiers.org/clinvar/94194 ^@ NM_003482.3(KMT2D):c.1797G>A (p.Leu599=) http://identifiers.org/clinvar/94195 ^@ NM_003482.3(KMT2D):c.1859C>G (p.Pro620Arg) http://identifiers.org/clinvar/94196 ^@ NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) http://identifiers.org/clinvar/94197 ^@ NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) http://identifiers.org/clinvar/94198 ^@ NM_003482.3(KMT2D):c.2214C>T (p.Ser738=) http://identifiers.org/clinvar/94199 ^@ NM_003482.3(KMT2D):c.2232_2258del27 (p.Arg755_Pro763del) http://identifiers.org/clinvar/94200 ^@ NM_003482.3(KMT2D):c.2373G>A (p.Gln791=) http://identifiers.org/clinvar/94201 ^@ NM_003482.3(KMT2D):c.2428_2508del81 (p.Thr810_Gln836del) http://identifiers.org/clinvar/94202 ^@ NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) http://identifiers.org/clinvar/94203 ^@ NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) http://identifiers.org/clinvar/94204 ^@ NM_003482.3(KMT2D):c.2547G>A (p.Ser849=) http://identifiers.org/clinvar/94205 ^@ NM_003482.3(KMT2D):c.2582C>G (p.Ser861Cys) http://identifiers.org/clinvar/94206 ^@ NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) http://identifiers.org/clinvar/94207 ^@ NM_003482.3(KMT2D):c.2838G>A (p.Ala946=) http://identifiers.org/clinvar/94208 ^@ NM_003482.3(KMT2D):c.2860T>C (p.Leu954=) http://identifiers.org/clinvar/94209 ^@ NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) http://identifiers.org/clinvar/94210 ^@ NM_003482.3(KMT2D):c.3532C>T (p.Gln1178Ter) http://identifiers.org/clinvar/94211 ^@ NM_003482.3(KMT2D):c.3546T>G (p.Cys1182Trp) http://identifiers.org/clinvar/94212 ^@ NM_003482.3(KMT2D):c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs) http://identifiers.org/clinvar/94213 ^@ NM_003482.3(KMT2D):c.4020+13C>G http://identifiers.org/clinvar/94214 ^@ NM_003482.3(KMT2D):c.4021-11_4021-10delCT http://identifiers.org/clinvar/94215 ^@ NM_003482.3(KMT2D):c.4056G>A (p.Glu1352=) http://identifiers.org/clinvar/94216 ^@ NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) http://identifiers.org/clinvar/94217 ^@ NM_003482.3(KMT2D):c.4143G>A (p.Val1381=) http://identifiers.org/clinvar/94218 ^@ NM_003482.3(KMT2D):c.4342T>C (p.Cys1448Arg) http://identifiers.org/clinvar/94219 ^@ NM_003482.3(KMT2D):c.4742-5T>G http://identifiers.org/clinvar/94220 ^@ NM_003482.3(KMT2D):c.477T>G (p.Gly159=) http://identifiers.org/clinvar/94221 ^@ NM_003482.3(KMT2D):c.4986C>T (p.Cys1662=) http://identifiers.org/clinvar/94222 ^@ NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) http://identifiers.org/clinvar/94223 ^@ NM_003482.3(KMT2D):c.5084-27C>T http://identifiers.org/clinvar/94224 ^@ NM_003482.3(KMT2D):c.510+45T>G http://identifiers.org/clinvar/94225 ^@ NM_003482.3(KMT2D):c.5124A>G (p.Thr1708=) http://identifiers.org/clinvar/94226 ^@ NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) http://identifiers.org/clinvar/94227 ^@ NM_003482.3(KMT2D):c.5319+3G>A http://identifiers.org/clinvar/94228 ^@ NM_003482.3(KMT2D):c.5467+19A>C http://identifiers.org/clinvar/94229 ^@ NM_003482.3(KMT2D):c.5645-17C>T http://identifiers.org/clinvar/94230 ^@ NM_003482.3(KMT2D):c.5645-2A>G http://identifiers.org/clinvar/94231 ^@ NM_003482.3(KMT2D):c.5868-8C>T http://identifiers.org/clinvar/94232 ^@ NM_003482.3(KMT2D):c.5908_5915delGACAGCCC (p.Asp1970Leufs) http://identifiers.org/clinvar/94233 ^@ NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) http://identifiers.org/clinvar/94234 ^@ NM_003482.3(KMT2D):c.6264C>T (p.Thr2088=) http://identifiers.org/clinvar/94235 ^@ NM_003482.3(KMT2D):c.6266A>T (p.Lys2089Met) http://identifiers.org/clinvar/94236 ^@ NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) http://identifiers.org/clinvar/94237 ^@ NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) http://identifiers.org/clinvar/94238 ^@ NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) http://identifiers.org/clinvar/94239 ^@ NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) http://identifiers.org/clinvar/94240 ^@ NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) http://identifiers.org/clinvar/94241 ^@ NM_003482.3(KMT2D):c.6699C>T (p.Thr2233=) http://identifiers.org/clinvar/94242 ^@ NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) http://identifiers.org/clinvar/94243 ^@ NM_003482.3(KMT2D):c.6978C>G (p.Val2326=) http://identifiers.org/clinvar/94244 ^@ NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) http://identifiers.org/clinvar/94245 ^@ NM_003482.3(KMT2D):c.7066C>T (p.Gln2356Ter) http://identifiers.org/clinvar/94246 ^@ NM_003482.3(KMT2D):c.7140delG (p.Gln2380Hisfs) http://identifiers.org/clinvar/94247 ^@ NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) http://identifiers.org/clinvar/94248 ^@ NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) http://identifiers.org/clinvar/94249 ^@ NM_003482.3(KMT2D):c.756C>T (p.His252=) http://identifiers.org/clinvar/94250 ^@ NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) http://identifiers.org/clinvar/94251 ^@ NM_003482.3(KMT2D):c.7795G>A (p.Gly2599Arg) http://identifiers.org/clinvar/94252 ^@ NM_003482.3(KMT2D):c.7839G>A (p.Pro2613=) http://identifiers.org/clinvar/94253 ^@ NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) http://identifiers.org/clinvar/94254 ^@ NM_003482.3(KMT2D):c.8046+11A>G http://identifiers.org/clinvar/94255 ^@ NM_003482.3(KMT2D):c.8047-15C>T http://identifiers.org/clinvar/94256 ^@ NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) http://identifiers.org/clinvar/94257 ^@ NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) http://identifiers.org/clinvar/94258 ^@ NM_003482.3(KMT2D):c.8148_8149delTCinsCT (p.Pro2717Ser) http://identifiers.org/clinvar/94259 ^@ NM_003482.3(KMT2D):c.8288C>T (p.Pro2763Leu) http://identifiers.org/clinvar/94260 ^@ NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) http://identifiers.org/clinvar/94261 ^@ NM_003491.3(NAA10):c.564G>A (p.Pro188=) http://identifiers.org/clinvar/94262 ^@ NM_003494.3(DYSF):c.1053+1G>A http://identifiers.org/clinvar/94263 ^@ NM_003494.3(DYSF):c.107_108delAA (p.Lys36Serfs) http://identifiers.org/clinvar/94264 ^@ NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) http://identifiers.org/clinvar/94265 ^@ NM_003494.3(DYSF):c.1180+11C>T http://identifiers.org/clinvar/94266 ^@ NM_003494.3(DYSF):c.1284+2T>C http://identifiers.org/clinvar/94267 ^@ NM_003494.3(DYSF):c.1317C>A (p.Asn439Lys) http://identifiers.org/clinvar/94268 ^@ NM_003494.3(DYSF):c.1353+13C>T http://identifiers.org/clinvar/94269 ^@ NM_003494.3(DYSF):c.1368C>A (p.Cys456Ter) http://identifiers.org/clinvar/94270 ^@ NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) http://identifiers.org/clinvar/94271 ^@ NM_003494.3(DYSF):c.1392dupA (p.Asp465Argfs) http://identifiers.org/clinvar/94272 ^@ NM_003494.3(DYSF):c.1398-1G>A http://identifiers.org/clinvar/94273 ^@ NM_003494.3(DYSF):c.1398-2A>G http://identifiers.org/clinvar/94274 ^@ NM_003494.3(DYSF):c.1481-1G>A http://identifiers.org/clinvar/94275 ^@ NM_003494.3(DYSF):c.1522+15C>G http://identifiers.org/clinvar/94276 ^@ NM_003494.3(DYSF):c.1638+2T>A http://identifiers.org/clinvar/94277 ^@ NM_003494.3(DYSF):c.1642delG (p.Glu548Lysfs) http://identifiers.org/clinvar/94278 ^@ NM_003494.3(DYSF):c.1663C>T (p.Arg555Trp) http://identifiers.org/clinvar/94279 ^@ NM_003494.3(DYSF):c.1731G>A (p.Ala577=) http://identifiers.org/clinvar/94280 ^@ NM_003494.3(DYSF):c.1787C>T (p.Ala596Val) http://identifiers.org/clinvar/94281 ^@ NM_003494.3(DYSF):c.1827T>C (p.Asp609=) http://identifiers.org/clinvar/94282 ^@ NM_003494.3(DYSF):c.1860C>T (p.Tyr620=) http://identifiers.org/clinvar/94283 ^@ NM_003494.3(DYSF):c.1890G>A (p.Pro630=) http://identifiers.org/clinvar/94284 ^@ NM_003494.3(DYSF):c.2162+16C>T http://identifiers.org/clinvar/94285 ^@ NM_003494.3(DYSF):c.2163-11G>A http://identifiers.org/clinvar/94286 ^@ NM_003494.3(DYSF):c.2311C>T (p.Gln771Ter) http://identifiers.org/clinvar/94288 ^@ NM_003494.3(DYSF):c.236+20G>A http://identifiers.org/clinvar/94289 ^@ NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) http://identifiers.org/clinvar/94290 ^@ NM_003494.3(DYSF):c.2583A>T (p.Ser861=) http://identifiers.org/clinvar/94291 ^@ NM_003494.3(DYSF):c.2643+1G>A http://identifiers.org/clinvar/94292 ^@ NM_003494.3(DYSF):c.2652C>T (p.Asn884=) http://identifiers.org/clinvar/94293 ^@ NM_003494.3(DYSF):c.2763G>A (p.Ser921=) http://identifiers.org/clinvar/94294 ^@ NM_003494.3(DYSF):c.2802G>A (p.Pro934=) http://identifiers.org/clinvar/94295 ^@ NM_003494.3(DYSF):c.2869C>T (p.Gln957Ter) http://identifiers.org/clinvar/94296 ^@ NM_003494.3(DYSF):c.2870_2874delAGACC (p.Gln957Profs) http://identifiers.org/clinvar/94297 ^@ NM_003494.3(DYSF):c.3032-17G>A http://identifiers.org/clinvar/94298 ^@ NM_003494.3(DYSF):c.3032-17G>T http://identifiers.org/clinvar/94299 ^@ NM_003494.3(DYSF):c.3060G>A (p.Pro1020=) http://identifiers.org/clinvar/94300 ^@ NM_003494.3(DYSF):c.3065G>A (p.Arg1022Gln) http://identifiers.org/clinvar/94301 ^@ NM_003494.3(DYSF):c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) http://identifiers.org/clinvar/94303 ^@ NM_003494.3(DYSF):c.3327_3328delGT (p.Phe1110Cysfs) http://identifiers.org/clinvar/94304 ^@ NM_003494.3(DYSF):c.343-17C>T http://identifiers.org/clinvar/94305 ^@ NM_003494.3(DYSF):c.3444_3445delTGinsAA (p.Tyr1148Ter) http://identifiers.org/clinvar/94306 ^@ NM_003494.3(DYSF):c.3521-17C>T http://identifiers.org/clinvar/94307 ^@ NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) http://identifiers.org/clinvar/94308 ^@ NM_003494.3(DYSF):c.353delT (p.Val118Alafs) http://identifiers.org/clinvar/94309 ^@ NM_003494.3(DYSF):c.3641delC (p.Pro1214Argfs) http://identifiers.org/clinvar/94310 ^@ NM_003494.3(DYSF):c.3703-12C>T http://identifiers.org/clinvar/94311 ^@ NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) http://identifiers.org/clinvar/94312 ^@ NM_003494.3(DYSF):c.393C>T (p.Pro131=) http://identifiers.org/clinvar/94313 ^@ NM_003494.3(DYSF):c.393_394delCC (p.Leu132Valfs) http://identifiers.org/clinvar/94314 ^@ NM_003494.3(DYSF):c.3972C>T (p.Asn1324=) http://identifiers.org/clinvar/94315 ^@ NM_003494.3(DYSF):c.3992G>T (p.Arg1331Leu) http://identifiers.org/clinvar/94316 ^@ NM_003494.3(DYSF):c.4008C>A (p.Ile1336=) http://identifiers.org/clinvar/94317 ^@ NM_003494.3(DYSF):c.4060_4062delTCC (p.Ser1354del) http://identifiers.org/clinvar/94318 ^@ NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) http://identifiers.org/clinvar/94319 ^@ NM_003494.3(DYSF):c.4168-20G>A http://identifiers.org/clinvar/94320 ^@ NM_003494.3(DYSF):c.4200dupC (p.Ile1401Hisfs) http://identifiers.org/clinvar/94321 ^@ NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) http://identifiers.org/clinvar/94322 ^@ NM_003494.3(DYSF):c.428C>A (p.Pro143Gln) http://identifiers.org/clinvar/94323 ^@ NM_003494.3(DYSF):c.4374C>T (p.Ile1458=) http://identifiers.org/clinvar/94324 ^@ NM_003494.3(DYSF):c.4439A>C (p.Lys1480Thr) http://identifiers.org/clinvar/94325 ^@ NM_003494.3(DYSF):c.4504C>T (p.Leu1502=) http://identifiers.org/clinvar/94326 ^@ NM_003494.3(DYSF):c.457+17G>C http://identifiers.org/clinvar/94327 ^@ NM_003494.3(DYSF):c.4577A>C (p.Lys1526Thr) http://identifiers.org/clinvar/94328 ^@ NM_003494.3(DYSF):c.4731G>A (p.Glu1577=) http://identifiers.org/clinvar/94329 ^@ NM_003494.3(DYSF):c.4742G>A (p.Arg1581His) http://identifiers.org/clinvar/94330 ^@ NM_003494.3(DYSF):c.4756C>T (p.Arg1586Ter) http://identifiers.org/clinvar/94331 ^@ NM_003494.3(DYSF):c.4794G>T (p.Lys1598Asn) http://identifiers.org/clinvar/94332 ^@ NM_003494.3(DYSF):c.4876G>A (p.Val1626Ile) http://identifiers.org/clinvar/94333 ^@ NM_003494.3(DYSF):c.4894G>T (p.Glu1632Ter) http://identifiers.org/clinvar/94334 ^@ NM_003494.3(DYSF):c.509C>A (p.Ala170Glu) http://identifiers.org/clinvar/94335 ^@ NM_003494.3(DYSF):c.510G>A (p.Ala170=) http://identifiers.org/clinvar/94336 ^@ NM_003494.3(DYSF):c.5341-2A>C http://identifiers.org/clinvar/94337 ^@ NM_003494.3(DYSF):c.5429+1G>T http://identifiers.org/clinvar/94338 ^@ NM_003494.3(DYSF):c.5441G>A (p.Arg1814His) http://identifiers.org/clinvar/94339 ^@ NM_003494.3(DYSF):c.5497G>T (p.Glu1833Ter) http://identifiers.org/clinvar/94340 ^@ NM_003494.3(DYSF):c.5509G>A (p.Asp1837Asn) http://identifiers.org/clinvar/94341 ^@ NM_003494.3(DYSF):c.5626G>A (p.Asp1876Asn) http://identifiers.org/clinvar/94342 ^@ NM_003494.3(DYSF):c.5644C>T (p.Gln1882Ter) http://identifiers.org/clinvar/94343 ^@ NM_003494.3(DYSF):c.565C>G (p.Leu189Val) http://identifiers.org/clinvar/94344 ^@ NM_003494.3(DYSF):c.5698_5699delAG (p.Ser1900Glnfs) http://identifiers.org/clinvar/94345 ^@ NM_003494.3(DYSF):c.570T>C (p.Pro190=) http://identifiers.org/clinvar/94346 ^@ NM_003494.3(DYSF):c.5768-16T>C http://identifiers.org/clinvar/94347 ^@ NM_003494.3(DYSF):c.5836_5839delCAGC (p.Gln1946Trpfs) http://identifiers.org/clinvar/94348 ^@ NM_003494.3(DYSF):c.5859A>C (p.Pro1953=) http://identifiers.org/clinvar/94349 ^@ NM_003494.3(DYSF):c.5946+1G>A http://identifiers.org/clinvar/94350 ^@ NM_003494.3(DYSF):c.5946G>A (p.Ala1982=) http://identifiers.org/clinvar/94351 ^@ NM_003494.3(DYSF):c.5979dupA (p.Glu1994Argfs) http://identifiers.org/clinvar/94352 ^@ NM_003494.3(DYSF):c.610C>T (p.Arg204Ter) http://identifiers.org/clinvar/94353 ^@ NM_003494.3(DYSF):c.6139A>G (p.Ile2047Val) http://identifiers.org/clinvar/94354 ^@ NM_003494.3(DYSF):c.6204+15C>T http://identifiers.org/clinvar/94355 ^@ NM_003494.3(DYSF):c.663+1G>C http://identifiers.org/clinvar/94356 ^@ NM_003494.3(DYSF):c.664-17C>T http://identifiers.org/clinvar/94357 ^@ NM_003494.3(DYSF):c.730_740delACCGCTGCAGGinsGCCCT (p.Thr244_Gly247delinsAlaLeu) http://identifiers.org/clinvar/94358 ^@ NM_003494.3(DYSF):c.755C>T (p.Thr252Met) http://identifiers.org/clinvar/94359 ^@ NM_003494.3(DYSF):c.764A>C (p.His255Pro) http://identifiers.org/clinvar/94360 ^@ NM_003494.3(DYSF):c.781C>T (p.Leu261Phe) http://identifiers.org/clinvar/94361 ^@ NM_003494.3(DYSF):c.792+11T>C http://identifiers.org/clinvar/94362 ^@ NM_003494.3(DYSF):c.792G>C (p.Glu264Asp) http://identifiers.org/clinvar/94363 ^@ NM_003494.3(DYSF):c.797T>G (p.Leu266Arg) http://identifiers.org/clinvar/94364 ^@ NM_003494.3(DYSF):c.855+4T>C http://identifiers.org/clinvar/94365 ^@ NM_003494.3(DYSF):c.857T>A (p.Val286Glu) http://identifiers.org/clinvar/94366 ^@ NM_003494.3(DYSF):c.865T>C (p.Ser289Pro) http://identifiers.org/clinvar/94367 ^@ NM_003494.3(DYSF):c.937+1G>A http://identifiers.org/clinvar/94368 ^@ NM_003494.3(DYSF):c.938-20G>A http://identifiers.org/clinvar/94369 ^@ NM_003494.3(DYSF):c.942C>T (p.His314=) http://identifiers.org/clinvar/94370 ^@ NM_003611.2(OFD1):c.1129+16A>G http://identifiers.org/clinvar/94371 ^@ NM_003611.2(OFD1):c.1543-2A>C http://identifiers.org/clinvar/94372 ^@ NM_003611.2(OFD1):c.458_459dupCT (p.Lys154Leufs) http://identifiers.org/clinvar/94373 ^@ NM_003611.2(OFD1):c.54A>G (p.Glu18=) http://identifiers.org/clinvar/94374 ^@ NM_003688.3(CASK):c.1034-6C>T http://identifiers.org/clinvar/94375 ^@ NM_003688.3(CASK):c.1794C>T (p.Asn598=) http://identifiers.org/clinvar/94376 ^@ NM_003688.3(CASK):c.2302C>T (p.His768Tyr) http://identifiers.org/clinvar/94377 ^@ NM_003688.3(CASK):c.356+6T>C http://identifiers.org/clinvar/94378 ^@ NM_003688.3(CASK):c.363T>C (p.Tyr121=) http://identifiers.org/clinvar/94379 ^@ NM_003835.3(RGS9):c.1502G>A (p.Arg501His) http://identifiers.org/clinvar/94380 ^@ NM_003859.2(DPM1):c.679-7A>T http://identifiers.org/clinvar/94381 ^@ NM_003907.2(EIF2B5):c.1759A>G (p.Ile587Val) http://identifiers.org/clinvar/94382 ^@ NM_003907.2(EIF2B5):c.2106+31T>C http://identifiers.org/clinvar/94383 ^@ NM_003919.2(SGCE):c.606A>G (p.Thr202=) http://identifiers.org/clinvar/94384 ^@ NM_003919.2(SGCE):c.709C>T (p.Arg237Ter) http://identifiers.org/clinvar/94385 ^@ NM_003923.2(FOXH1):c.338G>C (p.Ser113Thr) http://identifiers.org/clinvar/94386 ^@ NM_003990.4(PAX2):c.360C>T (p.Ala120=) http://identifiers.org/clinvar/94387 ^@ NM_003990.4(PAX2):c.43+10G>C http://identifiers.org/clinvar/94388 ^@ NM_004004.5(GJB2):c.-15C>T http://identifiers.org/clinvar/94390 ^@ NM_004004.5(GJB2):c.-7G>A http://identifiers.org/clinvar/94391 ^@ NM_004004.5(GJB2):c.187G>A (p.Val63Met) http://identifiers.org/clinvar/94392 ^@ NM_004004.5(GJB2):c.35dupG (p.Val13Cysfs) http://identifiers.org/clinvar/94393 ^@ NM_004004.5(GJB2):c.77_106dup30 (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle) http://identifiers.org/clinvar/94394 ^@ NM_004006.2(DMD):c.-1081T>C http://identifiers.org/clinvar/94395 ^@ NM_004006.2(DMD):c.-1128G>A http://identifiers.org/clinvar/94396 ^@ NM_004006.2(DMD):c.-114dupT http://identifiers.org/clinvar/94397 ^@ NM_004006.2(DMD):c.-127348A>T http://identifiers.org/clinvar/94398 ^@ NM_004006.2(DMD):c.-128163A>G http://identifiers.org/clinvar/94399 ^@ NM_004006.2(DMD):c.-128410A>C http://identifiers.org/clinvar/94400 ^@ NM_004006.2(DMD):c.-128490C>A http://identifiers.org/clinvar/94401 ^@ NM_004006.2(DMD):c.-128726A>G http://identifiers.org/clinvar/94402 ^@ NM_004006.2(DMD):c.-128771C>T http://identifiers.org/clinvar/94403 ^@ NM_004006.2(DMD):c.-128857G>A http://identifiers.org/clinvar/94404 ^@ NM_004006.2(DMD):c.-129064A>G http://identifiers.org/clinvar/94405 ^@ NM_004006.2(DMD):c.-129210_-129201dupACACACACAC http://identifiers.org/clinvar/94406 ^@ NM_004006.2(DMD):c.-129226A>G http://identifiers.org/clinvar/94407 ^@ NM_004006.2(DMD):c.-129266G>T http://identifiers.org/clinvar/94408 ^@ NM_004006.2(DMD):c.-129310A>G http://identifiers.org/clinvar/94409 ^@ NM_004006.2(DMD):c.-129329G>A http://identifiers.org/clinvar/94410 ^@ NM_004006.2(DMD):c.-129380T>A http://identifiers.org/clinvar/94411 ^@ NM_004006.2(DMD):c.-129556delA http://identifiers.org/clinvar/94412 ^@ NM_004006.2(DMD):c.-181A>T http://identifiers.org/clinvar/94413 ^@ NM_004006.2(DMD):c.-29dupT http://identifiers.org/clinvar/94414 ^@ NM_004006.2(DMD):c.-342G>A http://identifiers.org/clinvar/94415 ^@ NM_004006.2(DMD):c.-419A>G http://identifiers.org/clinvar/94416 ^@ NM_004006.2(DMD):c.-451A>G http://identifiers.org/clinvar/94417 ^@ NM_004006.2(DMD):c.-583dupA http://identifiers.org/clinvar/94418 ^@ NM_004006.2(DMD):c.-807A>T http://identifiers.org/clinvar/94419 ^@ NM_004006.2(DMD):c.-8T>A http://identifiers.org/clinvar/94420 ^@ NM_004006.2(DMD):c.-955A>T http://identifiers.org/clinvar/94421 ^@ NM_004006.2(DMD):c.10033C>T (p.Arg3345Ter) http://identifiers.org/clinvar/94422 ^@ NM_004006.2(DMD):c.10086+1G>A http://identifiers.org/clinvar/94423 ^@ NM_004006.2(DMD):c.10087-20C>T http://identifiers.org/clinvar/94424 ^@ NM_004006.2(DMD):c.10087-24A>G http://identifiers.org/clinvar/94425 ^@ NM_004006.2(DMD):c.1011T>G (p.Ser337Arg) http://identifiers.org/clinvar/94426 ^@ NM_004006.2(DMD):c.1012G>T (p.Glu338Ter) http://identifiers.org/clinvar/94427 ^@ NM_004006.2(DMD):c.10167delT (p.Arg3391Glufs) http://identifiers.org/clinvar/94428 ^@ NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) http://identifiers.org/clinvar/94429 ^@ NM_004006.2(DMD):c.10192C>T (p.Gln3398Ter) http://identifiers.org/clinvar/94430 ^@ NM_004019.2(DMD):c.1020G>A (p.Thr340=) http://identifiers.org/clinvar/94431 ^@ NM_004006.2(DMD):c.10258dupT (p.Ser3420Phefs) http://identifiers.org/clinvar/94432 ^@ NM_004006.2(DMD):c.10259C>T (p.Ser3420Phe) http://identifiers.org/clinvar/94433 ^@ NM_004006.2(DMD):c.10262+1G>A http://identifiers.org/clinvar/94434 ^@ NM_004006.2(DMD):c.10446_10447delCT (p.Ser3483Profs) http://identifiers.org/clinvar/94435 ^@ NM_004006.2(DMD):c.10453_10454delCT (p.Leu3485Glufs) http://identifiers.org/clinvar/94436 ^@ NM_004006.2(DMD):c.10454delT (p.Leu3485Argfs) http://identifiers.org/clinvar/94437 ^@ NM_004006.2(DMD):c.1048G>T (p.Glu350Ter) http://identifiers.org/clinvar/94438 ^@ NM_004006.2(DMD):c.10554-29_10554-20delTTTCTTTTTT http://identifiers.org/clinvar/94439 ^@ NM_004006.2(DMD):c.10554-36_10554-33delCTTT http://identifiers.org/clinvar/94440 ^@ NM_004006.2(DMD):c.10554-4A>G http://identifiers.org/clinvar/94441 ^@ NM_004006.2(DMD):c.10602dupA (p.Gly3535Argfs) http://identifiers.org/clinvar/94442 ^@ NM_004006.2(DMD):c.10613C>G (p.Pro3538Arg) http://identifiers.org/clinvar/94443 ^@ NM_004006.2(DMD):c.10625delC (p.Pro3542Leufs) http://identifiers.org/clinvar/94444 ^@ NM_004006.2(DMD):c.10643C>T (p.Thr3548Ile) http://identifiers.org/clinvar/94445 ^@ NM_004006.2(DMD):c.10774delA (p.Arg3592Glyfs) http://identifiers.org/clinvar/94446 ^@ NM_004006.2(DMD):c.10789C>T (p.Leu3597=) http://identifiers.org/clinvar/94447 ^@ NM_004006.2(DMD):c.10797+5G>A http://identifiers.org/clinvar/94448 ^@ NM_004006.2(DMD):c.10863C>T (p.Ser3621=) http://identifiers.org/clinvar/94449 ^@ NM_004006.2(DMD):c.10921+5G>A http://identifiers.org/clinvar/94450 ^@ NM_004006.2(DMD):c.11022T>G (p.Asn3674Lys) http://identifiers.org/clinvar/94451 ^@ NM_004006.2(DMD):c.11046+19C>A http://identifiers.org/clinvar/94452 ^@ NM_004006.2(DMD):c.1211G>T (p.Ser404Ile) http://identifiers.org/clinvar/94453 ^@ NM_004006.2(DMD):c.1225A>T (p.Thr409Ser) http://identifiers.org/clinvar/94454 ^@ NM_004006.2(DMD):c.1261C>T (p.Gln421Ter) http://identifiers.org/clinvar/94455 ^@ NM_004006.2(DMD):c.1286C>A (p.Ser429Ter) http://identifiers.org/clinvar/94456 ^@ NM_004006.2(DMD):c.1306dupG (p.Val436Glyfs) http://identifiers.org/clinvar/94457 ^@ NM_004006.2(DMD):c.1311T>G (p.Ala437=) http://identifiers.org/clinvar/94458 ^@ NM_004006.2(DMD):c.1331+26A>G http://identifiers.org/clinvar/94459 ^@ NM_004006.2(DMD):c.1332-18C>T http://identifiers.org/clinvar/94460 ^@ NM_004006.2(DMD):c.1332-9A>G http://identifiers.org/clinvar/94461 ^@ NM_004006.2(DMD):c.1337A>G (p.His446Arg) http://identifiers.org/clinvar/94462 ^@ NM_004006.2(DMD):c.1341_1342dupAG (p.Val448Glufs) http://identifiers.org/clinvar/94463 ^@ NM_004006.2(DMD):c.1371delG (p.Glu459Serfs) http://identifiers.org/clinvar/94464 ^@ NM_004006.2(DMD):c.137A>T (p.Asp46Val) http://identifiers.org/clinvar/94465 ^@ NM_004006.2(DMD):c.137_138dupAT (p.Gly47Metfs) http://identifiers.org/clinvar/94466 ^@ NM_004006.2(DMD):c.140G>A (p.Gly47Glu) http://identifiers.org/clinvar/94467 ^@ NM_004006.2(DMD):c.1432C>T (p.Pro478Ser) http://identifiers.org/clinvar/94468 ^@ NM_004006.2(DMD):c.1465C>T (p.Gln489Ter) http://identifiers.org/clinvar/94469 ^@ NM_004006.2(DMD):c.1482+1G>T http://identifiers.org/clinvar/94470 ^@ NM_004006.2(DMD):c.1483-7C>G http://identifiers.org/clinvar/94471 ^@ NM_004006.2(DMD):c.1513G>C (p.Val505Leu) http://identifiers.org/clinvar/94472 ^@ NM_004006.2(DMD):c.1529_1530delTC (p.Leu510Hisfs) http://identifiers.org/clinvar/94473 ^@ NM_004006.2(DMD):c.1554T>A (p.Asp518Glu) http://identifiers.org/clinvar/94474 ^@ NM_004006.2(DMD):c.160_162delCTC (p.Leu54del) http://identifiers.org/clinvar/94475 ^@ NM_004006.2(DMD):c.1615C>T (p.Arg539Ter) http://identifiers.org/clinvar/94476 ^@ NM_004006.2(DMD):c.1635A>G (p.Arg545=) http://identifiers.org/clinvar/94477 ^@ NM_004006.2(DMD):c.1704+51T>C http://identifiers.org/clinvar/94478 ^@ NM_004006.2(DMD):c.1731A>T (p.Glu577Asp) http://identifiers.org/clinvar/94479 ^@ NM_004006.2(DMD):c.1734delA (p.Glu579Lysfs) http://identifiers.org/clinvar/94480 ^@ NM_004006.2(DMD):c.1812C>T (p.Ala604=) http://identifiers.org/clinvar/94481 ^@ NM_004006.2(DMD):c.1848C>A (p.Ser616=) http://identifiers.org/clinvar/94482 ^@ NM_004006.2(DMD):c.1869C>T (p.Leu623=) http://identifiers.org/clinvar/94483 ^@ NM_004006.2(DMD):c.1886C>A (p.Ser629Ter) http://identifiers.org/clinvar/94484 ^@ NM_004006.2(DMD):c.1900A>T (p.Lys634Ter) http://identifiers.org/clinvar/94485 ^@ NM_004006.2(DMD):c.1900_1903dupAAGT (p.Ser635Terfs) http://identifiers.org/clinvar/94486 ^@ NM_004006.2(DMD):c.1990C>T (p.Gln664Ter) http://identifiers.org/clinvar/94487 ^@ NM_004006.2(DMD):c.1997C>T (p.Ser666Leu) http://identifiers.org/clinvar/94488 ^@ NM_004006.2(DMD):c.199G>T (p.Gly67Ter) http://identifiers.org/clinvar/94489 ^@ NM_004006.2(DMD):c.2032C>T (p.Gln678Ter) http://identifiers.org/clinvar/94490 ^@ NM_004006.2(DMD):c.2032_2033delCA (p.Gln678Aspfs) http://identifiers.org/clinvar/94491 ^@ NM_004006.2(DMD):c.204dupC (p.Thr69Hisfs) http://identifiers.org/clinvar/94492 ^@ NM_004006.2(DMD):c.2125delC (p.Gln709Lysfs) http://identifiers.org/clinvar/94493 ^@ NM_004006.2(DMD):c.2137C>T (p.Gln713Ter) http://identifiers.org/clinvar/94494 ^@ NM_004006.2(DMD):c.2143A>T (p.Thr715Ser) http://identifiers.org/clinvar/94495 ^@ NM_004006.2(DMD):c.2168+13T>C http://identifiers.org/clinvar/94496 ^@ NM_004006.2(DMD):c.2169-3_2169-1delinsAA http://identifiers.org/clinvar/94497 ^@ NM_004006.2(DMD):c.2169-7G>T http://identifiers.org/clinvar/94498 ^@ NM_004006.2(DMD):c.2173G>T (p.Asp725Tyr) http://identifiers.org/clinvar/94499 ^@ NM_004006.2(DMD):c.220delC (p.Leu74Terfs) http://identifiers.org/clinvar/94500 ^@ NM_004006.2(DMD):c.2281_2285delGAAAA (p.Glu761Serfs) http://identifiers.org/clinvar/94501 ^@ NM_004006.2(DMD):c.2293-15G>C http://identifiers.org/clinvar/94502 ^@ NM_004006.2(DMD):c.2294_2297delCCAT (p.Ala765Glufs) http://identifiers.org/clinvar/94503 ^@ NM_004006.2(DMD):c.2331G>C (p.Leu777=) http://identifiers.org/clinvar/94504 ^@ NM_004006.2(DMD):c.2332C>T (p.Gln778Ter) http://identifiers.org/clinvar/94505 ^@ NM_004006.2(DMD):c.2380+1G>C http://identifiers.org/clinvar/94506 ^@ NM_004006.2(DMD):c.2380+2T>C http://identifiers.org/clinvar/94507 ^@ NM_004006.2(DMD):c.2380G>A (p.Glu794Lys) http://identifiers.org/clinvar/94508 ^@ NM_004006.2(DMD):c.2381-1G>T http://identifiers.org/clinvar/94509 ^@ NM_004006.2(DMD):c.2386G>A (p.Val796Ile) http://identifiers.org/clinvar/94510 ^@ NM_004006.2(DMD):c.2391T>G (p.Asn797Lys) http://identifiers.org/clinvar/94511 ^@ NM_004006.2(DMD):c.2419C>T (p.Gln807Ter) http://identifiers.org/clinvar/94512 ^@ NM_004006.2(DMD):c.2436G>A (p.Trp812Ter) http://identifiers.org/clinvar/94513 ^@ NM_004006.2(DMD):c.2457A>C (p.Leu819=) http://identifiers.org/clinvar/94514 ^@ NM_004006.2(DMD):c.2479delG (p.Glu827Serfs) http://identifiers.org/clinvar/94515 ^@ NM_004006.2(DMD):c.2482T>G (p.Tyr828Asp) http://identifiers.org/clinvar/94516 ^@ NM_004006.2(DMD):c.2490C>T (p.Asn830=) http://identifiers.org/clinvar/94517 ^@ NM_004006.2(DMD):c.2518C>T (p.Gln840Ter) http://identifiers.org/clinvar/94518 ^@ NM_004006.2(DMD):c.251delT (p.Leu84Cysfs) http://identifiers.org/clinvar/94519 ^@ NM_004006.2(DMD):c.2523delA (p.Gln841Hisfs) http://identifiers.org/clinvar/94520 ^@ NM_004006.2(DMD):c.2547delT (p.Glu850Lysfs) http://identifiers.org/clinvar/94521 ^@ NM_004006.2(DMD):c.2573C>A (p.Thr858Asn) http://identifiers.org/clinvar/94522 ^@ NM_004006.2(DMD):c.2581T>A (p.Ser861Thr) http://identifiers.org/clinvar/94523 ^@ NM_004006.2(DMD):c.2607G>C (p.Gln869His) http://identifiers.org/clinvar/94524 ^@ NM_004006.2(DMD):c.2612A>C (p.Lys871Thr) http://identifiers.org/clinvar/94525 ^@ NM_004006.2(DMD):c.2614_2615insGGTGGCTCAC (p.Ile872Argfs) http://identifiers.org/clinvar/94526 ^@ NM_004006.2(DMD):c.2622+1G>A http://identifiers.org/clinvar/94527 ^@ NM_004006.2(DMD):c.2622+33A>G http://identifiers.org/clinvar/94528 ^@ NM_004006.2(DMD):c.2623-11C>G http://identifiers.org/clinvar/94529 ^@ NM_004006.2(DMD):c.264+5G>C http://identifiers.org/clinvar/94530 ^@ NM_004006.2(DMD):c.2650C>T (p.Gln884Ter) http://identifiers.org/clinvar/94531 ^@ NM_004006.2(DMD):c.2682C>T (p.Ser894=) http://identifiers.org/clinvar/94532 ^@ NM_004006.2(DMD):c.2758C>T (p.Gln920Ter) http://identifiers.org/clinvar/94533 ^@ NM_004006.2(DMD):c.276G>A (p.Val92=) http://identifiers.org/clinvar/94534 ^@ NM_004006.2(DMD):c.277A>G (p.Asn93Asp) http://identifiers.org/clinvar/94535 ^@ NM_004006.2(DMD):c.2803+1G>A http://identifiers.org/clinvar/94536 ^@ NM_004006.2(DMD):c.2803+1G>T http://identifiers.org/clinvar/94537 ^@ NM_004006.2(DMD):c.2804-1G>A http://identifiers.org/clinvar/94538 ^@ NM_004006.2(DMD):c.2816T>A (p.Leu939Ter) http://identifiers.org/clinvar/94539 ^@ NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) http://identifiers.org/clinvar/94540 ^@ NM_004006.2(DMD):c.2828G>A (p.Arg943His) http://identifiers.org/clinvar/94541 ^@ NM_004006.2(DMD):c.2842A>G (p.Met948Val) http://identifiers.org/clinvar/94542 ^@ NM_004006.2(DMD):c.2866C>T (p.Gln956Ter) http://identifiers.org/clinvar/94543 ^@ NM_004006.2(DMD):c.28delT (p.Cys10Valfs) http://identifiers.org/clinvar/94544 ^@ NM_004006.2(DMD):c.2929dupC (p.Gln977Profs) http://identifiers.org/clinvar/94546 ^@ NM_004006.2(DMD):c.2954T>A (p.Leu985Ter) http://identifiers.org/clinvar/94547 ^@ NM_004006.2(DMD):c.2977C>T (p.Gln993Ter) http://identifiers.org/clinvar/94548 ^@ NM_004006.2(DMD):c.3021G>A (p.Ser1007=) http://identifiers.org/clinvar/94549 ^@ NM_004006.2(DMD):c.3022A>T (p.Lys1008Ter) http://identifiers.org/clinvar/94550 ^@ NM_004006.2(DMD):c.3059C>G (p.Ser1020Ter) http://identifiers.org/clinvar/94551 ^@ NM_004006.2(DMD):c.3076G>T (p.Glu1026Ter) http://identifiers.org/clinvar/94552 ^@ NM_004006.2(DMD):c.3087G>A (p.Trp1029Ter) http://identifiers.org/clinvar/94553 ^@ NM_004006.2(DMD):c.31+173219A>G http://identifiers.org/clinvar/94554 ^@ NM_004006.2(DMD):c.31+1G>T http://identifiers.org/clinvar/94555 ^@ NM_004006.2(DMD):c.31+292A>C http://identifiers.org/clinvar/94556 ^@ NM_004006.2(DMD):c.31+36946C>T http://identifiers.org/clinvar/94557 ^@ NM_004006.2(DMD):c.31+36949C>T http://identifiers.org/clinvar/94558 ^@ NM_004006.2(DMD):c.31+37111T>G http://identifiers.org/clinvar/94559 ^@ NM_004006.2(DMD):c.31+37120T>A http://identifiers.org/clinvar/94560 ^@ NM_004006.2(DMD):c.31+68A>G http://identifiers.org/clinvar/94561 ^@ NM_004006.2(DMD):c.31+82537C>T http://identifiers.org/clinvar/94562 ^@ NM_004006.2(DMD):c.31+82538G>A http://identifiers.org/clinvar/94563 ^@ NM_004006.2(DMD):c.31+82538G>T http://identifiers.org/clinvar/94564 ^@ NM_004006.2(DMD):c.31+82639G>A http://identifiers.org/clinvar/94565 ^@ NM_004006.2(DMD):c.31+82690G>T http://identifiers.org/clinvar/94566 ^@ NM_004006.2(DMD):c.31+82743G>A http://identifiers.org/clinvar/94567 ^@ NM_004006.2(DMD):c.31+82758A>G http://identifiers.org/clinvar/94568 ^@ NM_004006.2(DMD):c.31+82898C>T http://identifiers.org/clinvar/94569 ^@ NM_004006.2(DMD):c.31+82921G>A http://identifiers.org/clinvar/94570 ^@ NM_004006.2(DMD):c.31+82961G>A http://identifiers.org/clinvar/94571 ^@ NM_004006.2(DMD):c.31+83052C>T http://identifiers.org/clinvar/94572 ^@ NM_004006.2(DMD):c.31+83180G>T http://identifiers.org/clinvar/94573 ^@ NM_004006.2(DMD):c.31+83313T>C http://identifiers.org/clinvar/94574 ^@ NM_004006.2(DMD):c.3124A>T (p.Lys1042Ter) http://identifiers.org/clinvar/94575 ^@ NM_004006.2(DMD):c.314A>T (p.Lys105Ile) http://identifiers.org/clinvar/94576 ^@ NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) http://identifiers.org/clinvar/94577 ^@ NM_004006.2(DMD):c.3163-18T>C http://identifiers.org/clinvar/94578 ^@ NM_004006.2(DMD):c.32-2A>T http://identifiers.org/clinvar/94579 ^@ NM_004006.2(DMD):c.3217G>A (p.Glu1073Lys) http://identifiers.org/clinvar/94580 ^@ NM_004006.2(DMD):c.3246_3247insTTTCTAAAAA (p.Ile1083Phefs) http://identifiers.org/clinvar/94581 ^@ NM_004006.2(DMD):c.3276+14_3276+15delAT http://identifiers.org/clinvar/94582 ^@ NM_004006.2(DMD):c.3276+17A>T http://identifiers.org/clinvar/94583 ^@ NM_004006.2(DMD):c.3276+1G>A http://identifiers.org/clinvar/94584 ^@ NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) http://identifiers.org/clinvar/94585 ^@ NM_004006.2(DMD):c.336G>A (p.Trp112Ter) http://identifiers.org/clinvar/94586 ^@ NM_004006.2(DMD):c.3374C>T (p.Ser1125Leu) http://identifiers.org/clinvar/94587 ^@ NM_004006.2(DMD):c.3406A>T (p.Thr1136Ser) http://identifiers.org/clinvar/94588 ^@ NM_004006.2(DMD):c.3419A>G (p.His1140Arg) http://identifiers.org/clinvar/94589 ^@ NM_004006.2(DMD):c.3432+1G>A http://identifiers.org/clinvar/94590 ^@ NM_004006.2(DMD):c.3432+2036A>C http://identifiers.org/clinvar/94591 ^@ NM_004006.2(DMD):c.3432+2089A>T http://identifiers.org/clinvar/94592 ^@ NM_004006.2(DMD):c.3432+3A>G http://identifiers.org/clinvar/94593 ^@ NM_004006.2(DMD):c.3433-1G>A http://identifiers.org/clinvar/94594 ^@ NM_004006.2(DMD):c.3446A>G (p.Lys1149Arg) http://identifiers.org/clinvar/94595 ^@ NM_004006.2(DMD):c.3502G>T (p.Glu1168Ter) http://identifiers.org/clinvar/94596 ^@ NM_004006.2(DMD):c.357+42T>C http://identifiers.org/clinvar/94597 ^@ NM_004006.2(DMD):c.3580C>T (p.Gln1194Ter) http://identifiers.org/clinvar/94598 ^@ NM_004006.2(DMD):c.3603+2T>A http://identifiers.org/clinvar/94599 ^@ NM_004006.2(DMD):c.3603+3delA http://identifiers.org/clinvar/94600 ^@ NM_004006.2(DMD):c.3603+8A>G http://identifiers.org/clinvar/94601 ^@ NM_004006.2(DMD):c.3639dupA (p.Val1214Serfs) http://identifiers.org/clinvar/94602 ^@ NM_004006.2(DMD):c.3697delC (p.Gln1233Lysfs) http://identifiers.org/clinvar/94603 ^@ NM_004006.2(DMD):c.3705C>T (p.Ala1235=) http://identifiers.org/clinvar/94604 ^@ NM_004006.2(DMD):c.3734C>T (p.Thr1245Ile) http://identifiers.org/clinvar/94605 ^@ NM_004006.2(DMD):c.3747delG (p.Trp1249Cysfs) http://identifiers.org/clinvar/94606 ^@ NM_004006.2(DMD):c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs) http://identifiers.org/clinvar/94607 ^@ NM_004006.2(DMD):c.3787-18T>C http://identifiers.org/clinvar/94608 ^@ NM_004006.2(DMD):c.3970C>T (p.Arg1324Cys) http://identifiers.org/clinvar/94609 ^@ NM_004006.2(DMD):c.4071G>C (p.Glu1357Asp) http://identifiers.org/clinvar/94610 ^@ NM_004006.2(DMD):c.4072-245C>T http://identifiers.org/clinvar/94611 ^@ NM_004006.2(DMD):c.4093C>T (p.Leu1365Phe) http://identifiers.org/clinvar/94612 ^@ NM_004006.2(DMD):c.4117C>T (p.Gln1373Ter) http://identifiers.org/clinvar/94613 ^@ NM_004006.2(DMD):c.4125T>C (p.Thr1375=) http://identifiers.org/clinvar/94614 ^@ NM_004006.2(DMD):c.412_413delAA (p.Lys138Aspfs) http://identifiers.org/clinvar/94615 ^@ NM_004006.2(DMD):c.4162T>G (p.Phe1388Val) http://identifiers.org/clinvar/94616 ^@ NM_004006.2(DMD):c.4233+2C>T http://identifiers.org/clinvar/94617 ^@ NM_004006.2(DMD):c.4234-13A>G http://identifiers.org/clinvar/94618 ^@ NM_004006.2(DMD):c.4275A>G (p.Glu1425=) http://identifiers.org/clinvar/94619 ^@ NM_004006.2(DMD):c.4314_4315delAA (p.Arg1439Serfs) http://identifiers.org/clinvar/94620 ^@ NM_004006.2(DMD):c.4344+17A>T http://identifiers.org/clinvar/94621 ^@ NM_004006.2(DMD):c.4345-12C>G http://identifiers.org/clinvar/94622 ^@ NM_004006.2(DMD):c.434G>C (p.Arg145Pro) http://identifiers.org/clinvar/94623 ^@ NM_004006.2(DMD):c.4375C>T (p.Arg1459Ter) http://identifiers.org/clinvar/94624 ^@ NM_004006.2(DMD):c.4405C>T (p.Gln1469Ter) http://identifiers.org/clinvar/94625 ^@ NM_004006.2(DMD):c.4409_4412dupGTCT (p.Gln1472Serfs) http://identifiers.org/clinvar/94626 ^@ NM_004006.2(DMD):c.4421G>C (p.Ser1474Thr) http://identifiers.org/clinvar/94627 ^@ NM_004006.2(DMD):c.4471_4472delAA (p.Lys1491Glufs) http://identifiers.org/clinvar/94628 ^@ NM_004006.2(DMD):c.4486delG (p.Glu1496Lysfs) http://identifiers.org/clinvar/94629 ^@ NM_004006.2(DMD):c.4500delA (p.Gln1501Serfs) http://identifiers.org/clinvar/94630 ^@ NM_004006.2(DMD):c.4518+5G>A http://identifiers.org/clinvar/94631 ^@ NM_004006.2(DMD):c.4518+5G>C http://identifiers.org/clinvar/94632 ^@ NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) http://identifiers.org/clinvar/94633 ^@ NM_004006.2(DMD):c.4534_4535delCT (p.Leu1512Glufs) http://identifiers.org/clinvar/94634 ^@ NM_004006.2(DMD):c.4545_4549delGAAGT (p.Lys1516Terfs) http://identifiers.org/clinvar/94635 ^@ NM_004006.2(DMD):c.4634dupT (p.Thr1546Asnfs) http://identifiers.org/clinvar/94636 ^@ NM_004006.2(DMD):c.4735G>T (p.Glu1579Ter) http://identifiers.org/clinvar/94637 ^@ NM_004006.2(DMD):c.4744G>A (p.Val1582Ile) http://identifiers.org/clinvar/94638 ^@ NM_004006.2(DMD):c.4775T>C (p.Met1592Thr) http://identifiers.org/clinvar/94639 ^@ NM_004006.2(DMD):c.478A>C (p.Thr160Pro) http://identifiers.org/clinvar/94640 ^@ NM_004006.2(DMD):c.4842A>T (p.Gly1614=) http://identifiers.org/clinvar/94641 ^@ NM_004006.2(DMD):c.4843A>T (p.Lys1615Ter) http://identifiers.org/clinvar/94642 ^@ NM_004006.2(DMD):c.4878G>T (p.Val1626=) http://identifiers.org/clinvar/94643 ^@ NM_004006.2(DMD):c.489G>A (p.Trp163Ter) http://identifiers.org/clinvar/94644 ^@ NM_004006.2(DMD):c.4902_4908delAGGAGAG (p.Gly1635Profs) http://identifiers.org/clinvar/94645 ^@ NM_004006.2(DMD):c.4926_4971dup46 (p.Ser1658Glyfs) http://identifiers.org/clinvar/94646 ^@ NM_004006.2(DMD):c.4996C>T (p.Arg1666Ter) http://identifiers.org/clinvar/94647 ^@ NM_004006.2(DMD):c.4996_5004delCGAGCAGAAinsT (p.Arg1666Terfs) http://identifiers.org/clinvar/94648 ^@ NM_004006.2(DMD):c.5016T>A (p.Asn1672Lys) http://identifiers.org/clinvar/94649 ^@ NM_004006.2(DMD):c.5022G>C (p.Leu1674Phe) http://identifiers.org/clinvar/94650 ^@ NM_004006.2(DMD):c.5026-7A>G http://identifiers.org/clinvar/94651 ^@ NM_004006.2(DMD):c.5052delT (p.Phe1684Leufs) http://identifiers.org/clinvar/94653 ^@ NM_004006.2(DMD):c.5124_5127delGAAA (p.Lys1708Asnfs) http://identifiers.org/clinvar/94654 ^@ NM_004006.2(DMD):c.5134C>T (p.Gln1712Ter) http://identifiers.org/clinvar/94655 ^@ NM_004006.2(DMD):c.5181A>T (p.Ile1727=) http://identifiers.org/clinvar/94656 ^@ NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) http://identifiers.org/clinvar/94657 ^@ NM_004006.2(DMD):c.5234G>A (p.Arg1745His) http://identifiers.org/clinvar/94658 ^@ NM_004006.2(DMD):c.5287C>T (p.Arg1763Ter) http://identifiers.org/clinvar/94659 ^@ NM_004006.2(DMD):c.5288G>T (p.Arg1763Leu) http://identifiers.org/clinvar/94660 ^@ NM_004006.2(DMD):c.530+1delG http://identifiers.org/clinvar/94661 ^@ NM_004006.2(DMD):c.531-17A>G http://identifiers.org/clinvar/94662 ^@ NM_004006.2(DMD):c.531-2A>C http://identifiers.org/clinvar/94663 ^@ NM_004006.2(DMD):c.531-34T>A http://identifiers.org/clinvar/94664 ^@ NM_004006.2(DMD):c.5313dupT (p.Lys1772Terfs) http://identifiers.org/clinvar/94665 ^@ NM_004006.2(DMD):c.5326-22G>T http://identifiers.org/clinvar/94666 ^@ NM_004006.2(DMD):c.5326-3delT http://identifiers.org/clinvar/94667 ^@ NM_004006.2(DMD):c.532C>T (p.Pro178Ser) http://identifiers.org/clinvar/94668 ^@ NM_004006.2(DMD):c.5353C>T (p.Gln1785Ter) http://identifiers.org/clinvar/94669 ^@ NM_004006.2(DMD):c.5530C>T (p.Arg1844Ter) http://identifiers.org/clinvar/94670 ^@ NM_004006.2(DMD):c.5554C>T (p.Gln1852Ter) http://identifiers.org/clinvar/94671 ^@ NM_004006.2(DMD):c.5570_5571dupAA (p.His1858Asnfs) http://identifiers.org/clinvar/94672 ^@ NM_004006.2(DMD):c.5586+18A>G http://identifiers.org/clinvar/94673 ^@ NM_004006.2(DMD):c.5586+30G>A http://identifiers.org/clinvar/94674 ^@ NM_004006.2(DMD):c.5586+9G>A http://identifiers.org/clinvar/94675 ^@ NM_004006.2(DMD):c.5620G>A (p.Glu1874Lys) http://identifiers.org/clinvar/94676 ^@ NM_004006.2(DMD):c.5640T>A (p.Tyr1880Ter) http://identifiers.org/clinvar/94677 ^@ NM_004006.2(DMD):c.5658T>C (p.Ala1886=) http://identifiers.org/clinvar/94678 ^@ NM_004006.2(DMD):c.5671A>T (p.Lys1891Ter) http://identifiers.org/clinvar/94679 ^@ NM_004006.2(DMD):c.5724T>C (p.Asp1908=) http://identifiers.org/clinvar/94680 ^@ NM_004006.2(DMD):c.5739+15G>T http://identifiers.org/clinvar/94681 ^@ NM_004006.2(DMD):c.5773G>T (p.Glu1925Ter) http://identifiers.org/clinvar/94682 ^@ NM_004006.2(DMD):c.5807T>A (p.Leu1936Ter) http://identifiers.org/clinvar/94683 ^@ NM_004006.2(DMD):c.5827A>G (p.Met1943Val) http://identifiers.org/clinvar/94684 ^@ NM_004006.2(DMD):c.583C>T (p.Arg195Ter) http://identifiers.org/clinvar/94685 ^@ NM_004006.2(DMD):c.5922+3G>C http://identifiers.org/clinvar/94686 ^@ NM_004006.2(DMD):c.5938G>T (p.Glu1980Ter) http://identifiers.org/clinvar/94687 ^@ NM_004006.2(DMD):c.5984A>T (p.Tyr1995Phe) http://identifiers.org/clinvar/94688 ^@ NM_004006.2(DMD):c.6000T>A (p.Tyr2000Ter) http://identifiers.org/clinvar/94689 ^@ NM_004006.2(DMD):c.6014_6017delCTCA (p.Thr2005Metfs) http://identifiers.org/clinvar/94690 ^@ NM_004006.2(DMD):c.606C>T (p.Ile202=) http://identifiers.org/clinvar/94691 ^@ NM_004006.2(DMD):c.6072T>A (p.Cys2024Ter) http://identifiers.org/clinvar/94692 ^@ NM_004006.2(DMD):c.6101A>C (p.Gln2034Pro) http://identifiers.org/clinvar/94693 ^@ NM_004006.2(DMD):c.615T>A (p.Tyr205Ter) http://identifiers.org/clinvar/94694 ^@ NM_004006.2(DMD):c.6182delC (p.Ala2061Glufs) http://identifiers.org/clinvar/94695 ^@ NM_004006.2(DMD):c.6195T>C (p.Ser2065=) http://identifiers.org/clinvar/94696 ^@ NM_004006.2(DMD):c.6226G>T (p.Glu2076Ter) http://identifiers.org/clinvar/94697 ^@ NM_004006.2(DMD):c.6283C>T (p.Arg2095Ter) http://identifiers.org/clinvar/94698 ^@ NM_004006.2(DMD):c.6290+15T>C http://identifiers.org/clinvar/94699 ^@ NM_004006.2(DMD):c.6290+27T>A http://identifiers.org/clinvar/94700 ^@ NM_004006.2(DMD):c.6291-42T>A http://identifiers.org/clinvar/94701 ^@ NM_004006.2(DMD):c.62T>C (p.Phe21Ser) http://identifiers.org/clinvar/94702 ^@ NM_004006.2(DMD):c.6320G>A (p.Arg2107Gln) http://identifiers.org/clinvar/94703 ^@ NM_004006.2(DMD):c.6322C>T (p.Arg2108Cys) http://identifiers.org/clinvar/94704 ^@ NM_004006.2(DMD):c.6340A>T (p.Lys2114Ter) http://identifiers.org/clinvar/94705 ^@ NM_004006.2(DMD):c.6391_6392delCA (p.Gln2131Asnfs) http://identifiers.org/clinvar/94706 ^@ NM_004006.2(DMD):c.6392_6393insCA (p.Gln2131Hisfs) http://identifiers.org/clinvar/94707 ^@ NM_004006.2(DMD):c.6438+24G>A http://identifiers.org/clinvar/94708 ^@ NM_004006.2(DMD):c.6438+58226C>T http://identifiers.org/clinvar/94709 ^@ NM_004006.2(DMD):c.6438+58507dupT http://identifiers.org/clinvar/94710 ^@ NM_004006.2(DMD):c.6438+58528G>A http://identifiers.org/clinvar/94711 ^@ NM_004006.2(DMD):c.6438+58593T>G http://identifiers.org/clinvar/94712 ^@ NM_004006.2(DMD):c.6438+58798A>C http://identifiers.org/clinvar/94713 ^@ NM_004006.2(DMD):c.6438+58812A>T http://identifiers.org/clinvar/94714 ^@ NM_004006.2(DMD):c.6438+58822A>G http://identifiers.org/clinvar/94715 ^@ NM_004006.2(DMD):c.6438+58837T>C http://identifiers.org/clinvar/94716 ^@ NM_004006.2(DMD):c.6438+59055C>T http://identifiers.org/clinvar/94717 ^@ NM_004006.2(DMD):c.6438+59313C>G http://identifiers.org/clinvar/94718 ^@ NM_004006.2(DMD):c.6438+59343G>C http://identifiers.org/clinvar/94719 ^@ NM_004006.2(DMD):c.6438+59512A>T http://identifiers.org/clinvar/94720 ^@ NM_004006.2(DMD):c.6438+59956T>G http://identifiers.org/clinvar/94721 ^@ NM_004006.2(DMD):c.6438+59968G>A http://identifiers.org/clinvar/94722 ^@ NM_004006.2(DMD):c.6438+60230_6438+60232delAAG http://identifiers.org/clinvar/94723 ^@ NM_004006.2(DMD):c.6438+60244C>T http://identifiers.org/clinvar/94725 ^@ NM_004006.2(DMD):c.6438+60329C>T http://identifiers.org/clinvar/94726 ^@ NM_004006.2(DMD):c.6438+60423A>T http://identifiers.org/clinvar/94727 ^@ NM_004006.2(DMD):c.6438+60457A>G http://identifiers.org/clinvar/94728 ^@ NM_004006.2(DMD):c.6438+60579T>C http://identifiers.org/clinvar/94729 ^@ NM_004006.2(DMD):c.6438+60731A>T http://identifiers.org/clinvar/94730 ^@ NM_004006.2(DMD):c.6438+60853T>C http://identifiers.org/clinvar/94731 ^@ NM_004006.2(DMD):c.6438+60858T>G http://identifiers.org/clinvar/94732 ^@ NM_004006.2(DMD):c.6438+60871T>C http://identifiers.org/clinvar/94733 ^@ NM_004006.2(DMD):c.6438+60893A>G http://identifiers.org/clinvar/94736 ^@ NM_004006.2(DMD):c.6438+60954delA http://identifiers.org/clinvar/94737 ^@ NM_004006.2(DMD):c.6438+61137A>G http://identifiers.org/clinvar/94738 ^@ NM_004006.2(DMD):c.6438+61139T>G http://identifiers.org/clinvar/94739 ^@ NM_004006.2(DMD):c.6438+61366A>G http://identifiers.org/clinvar/94740 ^@ NM_004006.2(DMD):c.6438+61441C>G http://identifiers.org/clinvar/94741 ^@ NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) http://identifiers.org/clinvar/94742 ^@ NM_004006.2(DMD):c.6471T>A (p.Thr2157=) http://identifiers.org/clinvar/94743 ^@ NM_004006.2(DMD):c.649+1G>A http://identifiers.org/clinvar/94744 ^@ NM_004006.2(DMD):c.649+48A>T http://identifiers.org/clinvar/94745 ^@ NM_004006.2(DMD):c.6763-2A>G http://identifiers.org/clinvar/94746 ^@ NM_004006.2(DMD):c.676_678delAAG (p.Lys226del) http://identifiers.org/clinvar/94747 ^@ NM_004006.2(DMD):c.6828C>T (p.Pro2276=) http://identifiers.org/clinvar/94748 ^@ NM_004006.2(DMD):c.6834delT (p.Val2279Terfs) http://identifiers.org/clinvar/94749 ^@ NM_004006.2(DMD):c.6900C>T (p.Leu2300=) http://identifiers.org/clinvar/94750 ^@ NM_004006.2(DMD):c.6906G>A (p.Trp2302Ter) http://identifiers.org/clinvar/94751 ^@ NM_004006.2(DMD):c.6936delA (p.Lys2312Asnfs) http://identifiers.org/clinvar/94752 ^@ NM_004006.2(DMD):c.6943G>T (p.Glu2315Ter) http://identifiers.org/clinvar/94753 ^@ NM_004006.2(DMD):c.6964delG (p.Asp2322Thrfs) http://identifiers.org/clinvar/94754 ^@ NM_004006.2(DMD):c.6986dupA (p.Leu2330Alafs) http://identifiers.org/clinvar/94755 ^@ NM_004006.2(DMD):c.7016A>G (p.His2339Arg) http://identifiers.org/clinvar/94756 ^@ NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) http://identifiers.org/clinvar/94757 ^@ NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) http://identifiers.org/clinvar/94758 ^@ NM_004006.2(DMD):c.7189C>T (p.Gln2397Ter) http://identifiers.org/clinvar/94759 ^@ NM_004006.2(DMD):c.7229G>A (p.Trp2410Ter) http://identifiers.org/clinvar/94760 ^@ NM_004006.2(DMD):c.7309+1G>A http://identifiers.org/clinvar/94761 ^@ NM_004006.2(DMD):c.7310-16delA http://identifiers.org/clinvar/94762 ^@ NM_004006.2(DMD):c.7310-29C>G http://identifiers.org/clinvar/94763 ^@ NM_004006.2(DMD):c.7310-36C>T http://identifiers.org/clinvar/94764 ^@ NM_004006.2(DMD):c.7323T>C (p.Thr2441=) http://identifiers.org/clinvar/94765 ^@ NM_004006.2(DMD):c.7476T>C (p.Val2492=) http://identifiers.org/clinvar/94766 ^@ NM_004006.2(DMD):c.7542+10A>G http://identifiers.org/clinvar/94767 ^@ NM_004006.2(DMD):c.7542+13A>G http://identifiers.org/clinvar/94768 ^@ NM_004006.2(DMD):c.7542+7G>A http://identifiers.org/clinvar/94769 ^@ NM_004006.2(DMD):c.7543-19G>A http://identifiers.org/clinvar/94770 ^@ NM_004006.2(DMD):c.7552delC (p.Gln2518Argfs) http://identifiers.org/clinvar/94771 ^@ NM_004006.2(DMD):c.7653G>A (p.Thr2551=) http://identifiers.org/clinvar/94772 ^@ NM_004006.2(DMD):c.7657C>T (p.Arg2553Ter) http://identifiers.org/clinvar/94773 ^@ NM_004006.2(DMD):c.7672C>T (p.Gln2558Ter) http://identifiers.org/clinvar/94774 ^@ NM_004006.2(DMD):c.7682G>A (p.Trp2561Ter) http://identifiers.org/clinvar/94775 ^@ NM_004006.2(DMD):c.7683G>A (p.Trp2561Ter) http://identifiers.org/clinvar/94776 ^@ NM_004006.2(DMD):c.7728T>C (p.Asn2576=) http://identifiers.org/clinvar/94777 ^@ NM_004006.2(DMD):c.7764dupT (p.Lys2589Terfs) http://identifiers.org/clinvar/94778 ^@ NM_004006.2(DMD):c.7771G>T (p.Glu2591Ter) http://identifiers.org/clinvar/94779 ^@ NM_004006.2(DMD):c.7818G>A (p.Trp2606Ter) http://identifiers.org/clinvar/94780 ^@ NM_004006.2(DMD):c.7854delG (p.Ile2620Serfs) http://identifiers.org/clinvar/94781 ^@ NM_004006.2(DMD):c.7894C>T (p.Gln2632Ter) http://identifiers.org/clinvar/94782 ^@ NM_004006.2(DMD):c.7922delA (p.Asn2641Metfs) http://identifiers.org/clinvar/94783 ^@ NM_004006.2(DMD):c.8027+11C>T http://identifiers.org/clinvar/94784 ^@ NM_004006.2(DMD):c.802T>C (p.Leu268=) http://identifiers.org/clinvar/94785 ^@ NM_004006.2(DMD):c.8064_8065delTA (p.His2688Glnfs) http://identifiers.org/clinvar/94786 ^@ NM_004006.2(DMD):c.8069T>G (p.Leu2690Ter) http://identifiers.org/clinvar/94787 ^@ NM_004006.2(DMD):c.8086delC (p.Leu2696Trpfs) http://identifiers.org/clinvar/94788 ^@ NM_004006.2(DMD):c.8218-1069G>A http://identifiers.org/clinvar/94789 ^@ NM_004006.2(DMD):c.8218-23T>G http://identifiers.org/clinvar/94790 ^@ NM_004006.2(DMD):c.8218-595T>C http://identifiers.org/clinvar/94791 ^@ NM_004006.2(DMD):c.8218-630G>A http://identifiers.org/clinvar/94792 ^@ NM_004006.2(DMD):c.8218-650C>T http://identifiers.org/clinvar/94793 ^@ NM_004006.2(DMD):c.8218-694C>T http://identifiers.org/clinvar/94794 ^@ NM_004006.2(DMD):c.8218-808T>C http://identifiers.org/clinvar/94795 ^@ NM_004006.2(DMD):c.8218-946C>T http://identifiers.org/clinvar/94796 ^@ NM_004006.2(DMD):c.8218-971T>A http://identifiers.org/clinvar/94797 ^@ NM_004006.2(DMD):c.8255A>G (p.Tyr2752Cys) http://identifiers.org/clinvar/94798 ^@ NM_004006.2(DMD):c.831G>T (p.Gln277His) http://identifiers.org/clinvar/94799 ^@ NM_004006.2(DMD):c.832-17C>A http://identifiers.org/clinvar/94800 ^@ NM_004006.2(DMD):c.832-18C>G http://identifiers.org/clinvar/94801 ^@ NM_004006.2(DMD):c.832-44T>A http://identifiers.org/clinvar/94802 ^@ NM_004006.2(DMD):c.8358G>A (p.Trp2786Ter) http://identifiers.org/clinvar/94803 ^@ NM_004006.2(DMD):c.8368C>T (p.Arg2790Trp) http://identifiers.org/clinvar/94804 ^@ NM_004006.2(DMD):c.8374_8375delAA (p.Lys2792Valfs) http://identifiers.org/clinvar/94805 ^@ NM_004006.2(DMD):c.837G>A (p.Thr279=) http://identifiers.org/clinvar/94806 ^@ NM_004006.2(DMD):c.8399T>C (p.Leu2800Ser) http://identifiers.org/clinvar/94807 ^@ NM_004006.2(DMD):c.8443C>T (p.Gln2815Ter) http://identifiers.org/clinvar/94808 ^@ NM_004006.2(DMD):c.8464C>T (p.Gln2822Ter) http://identifiers.org/clinvar/94809 ^@ NM_004006.2(DMD):c.8571T>C (p.Thr2857=) http://identifiers.org/clinvar/94810 ^@ NM_004006.2(DMD):c.8608C>T (p.Arg2870Ter) http://identifiers.org/clinvar/94811 ^@ NM_004006.2(DMD):c.8652_8653delCT (p.Tyr2885Profs) http://identifiers.org/clinvar/94812 ^@ NM_004006.2(DMD):c.8668+19A>G http://identifiers.org/clinvar/94813 ^@ NM_004006.2(DMD):c.8668+26C>A http://identifiers.org/clinvar/94814 ^@ NM_004006.2(DMD):c.8668+30T>C http://identifiers.org/clinvar/94815 ^@ NM_004006.2(DMD):c.8668G>A (p.Glu2890Lys) http://identifiers.org/clinvar/94816 ^@ NM_004006.2(DMD):c.8767G>T (p.Ala2923Ser) http://identifiers.org/clinvar/94817 ^@ NM_004006.2(DMD):c.8852G>A (p.Arg2951His) http://identifiers.org/clinvar/94818 ^@ NM_004006.2(DMD):c.8893G>A (p.Asp2965Asn) http://identifiers.org/clinvar/94819 ^@ NM_004006.2(DMD):c.8912_8913delTC (p.Leu2971Profs) http://identifiers.org/clinvar/94820 ^@ NM_004006.2(DMD):c.8938-3C>G http://identifiers.org/clinvar/94821 ^@ NM_004006.2(DMD):c.9085-15497G>C http://identifiers.org/clinvar/94822 ^@ NM_004006.2(DMD):c.9085-15539G>A http://identifiers.org/clinvar/94823 ^@ NM_004006.2(DMD):c.9125delA (p.His3042Profs) http://identifiers.org/clinvar/94824 ^@ NM_004006.2(DMD):c.9158_9161delTTTC (p.Leu3053Profs) http://identifiers.org/clinvar/94825 ^@ NM_004006.2(DMD):c.9164-1G>T http://identifiers.org/clinvar/94826 ^@ NM_004006.2(DMD):c.9164C>T (p.Thr3055Met) http://identifiers.org/clinvar/94827 ^@ NM_004006.2(DMD):c.9224+61934A>G http://identifiers.org/clinvar/94828 ^@ NM_004006.2(DMD):c.9225-5727G>A http://identifiers.org/clinvar/94829 ^@ NM_004006.2(DMD):c.9225-5729G>A http://identifiers.org/clinvar/94830 ^@ NM_004006.2(DMD):c.9225-5912C>T http://identifiers.org/clinvar/94831 ^@ NM_004006.2(DMD):c.9225-5919G>A http://identifiers.org/clinvar/94832 ^@ NM_004006.2(DMD):c.9225-5924T>G http://identifiers.org/clinvar/94833 ^@ NM_004006.2(DMD):c.9225-5949C>T http://identifiers.org/clinvar/94834 ^@ NM_004006.2(DMD):c.9225-5980C>T http://identifiers.org/clinvar/94835 ^@ NM_004006.2(DMD):c.9225-603T>G http://identifiers.org/clinvar/94837 ^@ NM_004006.2(DMD):c.9225-647A>G http://identifiers.org/clinvar/94838 ^@ NM_004006.2(DMD):c.9225-669G>A http://identifiers.org/clinvar/94839 ^@ NM_004006.2(DMD):c.9337C>T (p.Arg3113Ter) http://identifiers.org/clinvar/94840 ^@ NM_004006.2(DMD):c.9346C>T (p.Gln3116Ter) http://identifiers.org/clinvar/94841 ^@ NM_004006.2(DMD):c.9361+1G>A http://identifiers.org/clinvar/94842 ^@ NM_004006.2(DMD):c.9361+1G>C http://identifiers.org/clinvar/94843 ^@ NM_004006.2(DMD):c.94-43G>A http://identifiers.org/clinvar/94844 ^@ NM_004006.2(DMD):c.94-9dupT http://identifiers.org/clinvar/94845 ^@ NM_004006.2(DMD):c.9564-1G>A http://identifiers.org/clinvar/94846 ^@ NM_004006.2(DMD):c.9564-22C>G http://identifiers.org/clinvar/94847 ^@ NM_004006.2(DMD):c.9564-23T>A http://identifiers.org/clinvar/94848 ^@ NM_004006.2(DMD):c.960+50delG http://identifiers.org/clinvar/94849 ^@ NM_004006.2(DMD):c.961-5831C>T http://identifiers.org/clinvar/94850 ^@ NM_004006.2(DMD):c.961-5853C>T http://identifiers.org/clinvar/94851 ^@ NM_004006.2(DMD):c.961-5978_961-5977insGGA http://identifiers.org/clinvar/94852 ^@ NM_004006.2(DMD):c.961-5981A>T http://identifiers.org/clinvar/94854 ^@ NM_004006.2(DMD):c.9649+15T>C http://identifiers.org/clinvar/94855 ^@ NM_004006.2(DMD):c.9650-2A>G http://identifiers.org/clinvar/94856 ^@ NM_000109.3(DMD):c.9658T>C (p.Phe3220Leu) http://identifiers.org/clinvar/94857 ^@ NM_004006.2(DMD):c.9686G>T (p.Cys3229Phe) http://identifiers.org/clinvar/94858 ^@ NM_004006.2(DMD):c.9694C>T (p.Arg3232Cys) http://identifiers.org/clinvar/94859 ^@ NM_004006.2(DMD):c.9715C>T (p.His3239Tyr) http://identifiers.org/clinvar/94860 ^@ NM_004006.2(DMD):c.9767dupG (p.Ser3257Glnfs) http://identifiers.org/clinvar/94861 ^@ NM_004006.2(DMD):c.9804A>G (p.Gln3268=) http://identifiers.org/clinvar/94862 ^@ NM_004006.2(DMD):c.9851G>A (p.Trp3284Ter) http://identifiers.org/clinvar/94863 ^@ NM_004006.2(DMD):c.9854_9863delTGAGACTGGA (p.Met3285Asnfs) http://identifiers.org/clinvar/94864 ^@ NM_004006.2(DMD):c.9862G>T (p.Glu3288Ter) http://identifiers.org/clinvar/94865 ^@ NM_004006.2(DMD):c.9896A>G (p.His3299Arg) http://identifiers.org/clinvar/94866 ^@ NM_004006.2(DMD):c.9926A>G (p.His3309Arg) http://identifiers.org/clinvar/94867 ^@ NM_004006.2(DMD):c.9974+22delA http://identifiers.org/clinvar/94868 ^@ NM_004006.2(DMD):c.9974+22dupA http://identifiers.org/clinvar/94869 ^@ NM_004006.2(DMD):c.9974G>A (p.Arg3325Lys) http://identifiers.org/clinvar/94870 ^@ NM_004183.3(BEST1):c.153-7_153-2delCCCCCA http://identifiers.org/clinvar/94871 ^@ NM_004187.3(KDM5C):c.1794C>T (p.Pro598=) http://identifiers.org/clinvar/94872 ^@ NM_004187.3(KDM5C):c.2243+11G>T http://identifiers.org/clinvar/94874 ^@ NM_004187.3(KDM5C):c.2517-9_2517-7dupACT http://identifiers.org/clinvar/94875 ^@ NM_004187.3(KDM5C):c.2662C>T (p.Arg888Cys) http://identifiers.org/clinvar/94876 ^@ NM_004187.3(KDM5C):c.3300+8C>T http://identifiers.org/clinvar/94877 ^@ NM_004187.3(KDM5C):c.3381A>G (p.Lys1127=) http://identifiers.org/clinvar/94878 ^@ NM_004187.3(KDM5C):c.3990C>G (p.Ala1330=) http://identifiers.org/clinvar/94879 ^@ NM_004187.3(KDM5C):c.4637G>A (p.Arg1546Gln) http://identifiers.org/clinvar/94880 ^@ NM_004187.3(KDM5C):c.4668T>C (p.Pro1556=) http://identifiers.org/clinvar/94881 ^@ NM_004187.3(KDM5C):c.4674A>G (p.Gln1558=) http://identifiers.org/clinvar/94882 ^@ NM_004187.3(KDM5C):c.564G>A (p.Lys188=) http://identifiers.org/clinvar/94883 ^@ NM_004260.3(RECQL4):c.1124G>A (p.Arg375His) http://identifiers.org/clinvar/94884 ^@ NM_004260.3(RECQL4):c.1258+18G>A http://identifiers.org/clinvar/94885 ^@ NM_004260.3(RECQL4):c.132A>G (p.Glu44=) http://identifiers.org/clinvar/94886 ^@ NM_004260.3(RECQL4):c.1621-15C>T http://identifiers.org/clinvar/94887 ^@ NM_004260.3(RECQL4):c.1879-15C>A http://identifiers.org/clinvar/94888 ^@ NM_004260.3(RECQL4):c.1936C>T (p.Arg646Cys) http://identifiers.org/clinvar/94889 ^@ NM_004260.3(RECQL4):c.2464-1G>C http://identifiers.org/clinvar/94890 ^@ NM_004260.3(RECQL4):c.2636C>A (p.Pro879His) http://identifiers.org/clinvar/94891 ^@ NM_004260.3(RECQL4):c.3014G>A (p.Arg1005Gln) http://identifiers.org/clinvar/94892 ^@ NM_004260.3(RECQL4):c.3128T>A (p.Leu1043Gln) http://identifiers.org/clinvar/94893 ^@ NM_004260.3(RECQL4):c.3236+13C>T http://identifiers.org/clinvar/94894 ^@ NM_004260.3(RECQL4):c.3393+8C>T http://identifiers.org/clinvar/94895 ^@ NM_004260.3(RECQL4):c.3600G>A (p.Thr1200=) http://identifiers.org/clinvar/94896 ^@ NM_004260.3(RECQL4):c.565G>A (p.Gly189Ser) http://identifiers.org/clinvar/94897 ^@ NM_004260.3(RECQL4):c.738C>T (p.Ser246=) http://identifiers.org/clinvar/94898 ^@ NM_004260.3(RECQL4):c.801G>C (p.Glu267Asp) http://identifiers.org/clinvar/94899 ^@ NM_004260.3(RECQL4):c.891C>T (p.Asp297=) http://identifiers.org/clinvar/94900 ^@ NM_004369.3(COL6A3):c.*7G>C http://identifiers.org/clinvar/94901 ^@ NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) http://identifiers.org/clinvar/94902 ^@ NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) http://identifiers.org/clinvar/94903 ^@ NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) http://identifiers.org/clinvar/94904 ^@ NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) http://identifiers.org/clinvar/94905 ^@ NM_004369.3(COL6A3):c.1313-17A>G http://identifiers.org/clinvar/94906 ^@ NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) http://identifiers.org/clinvar/94907 ^@ NM_004369.3(COL6A3):c.1471G>C (p.Asp491His) http://identifiers.org/clinvar/94908 ^@ NM_004369.3(COL6A3):c.1475C>G (p.Thr492Ser) http://identifiers.org/clinvar/94909 ^@ NM_004369.3(COL6A3):c.1638C>T (p.Ala546=) http://identifiers.org/clinvar/94910 ^@ NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) http://identifiers.org/clinvar/94911 ^@ NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) http://identifiers.org/clinvar/94912 ^@ NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) http://identifiers.org/clinvar/94913 ^@ NM_004369.3(COL6A3):c.1914G>A (p.Arg638=) http://identifiers.org/clinvar/94914 ^@ NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) http://identifiers.org/clinvar/94915 ^@ NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) http://identifiers.org/clinvar/94916 ^@ NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) http://identifiers.org/clinvar/94917 ^@ NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) http://identifiers.org/clinvar/94918 ^@ NM_004369.3(COL6A3):c.3071-16G>A http://identifiers.org/clinvar/94919 ^@ NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) http://identifiers.org/clinvar/94920 ^@ NM_004369.3(COL6A3):c.3088G>A (p.Val1030Met) http://identifiers.org/clinvar/94921 ^@ NM_004369.3(COL6A3):c.3129C>T (p.Gly1043=) http://identifiers.org/clinvar/94922 ^@ NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) http://identifiers.org/clinvar/94923 ^@ NM_004369.3(COL6A3):c.3223C>A (p.Arg1075=) http://identifiers.org/clinvar/94924 ^@ NM_004369.3(COL6A3):c.3262A>C (p.Lys1088Gln) http://identifiers.org/clinvar/94925 ^@ NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) http://identifiers.org/clinvar/94926 ^@ NM_004369.3(COL6A3):c.3954C>T (p.Tyr1318=) http://identifiers.org/clinvar/94927 ^@ NM_004369.3(COL6A3):c.4090G>A (p.Val1364Met) http://identifiers.org/clinvar/94928 ^@ NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) http://identifiers.org/clinvar/94929 ^@ NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) http://identifiers.org/clinvar/94930 ^@ NM_004369.3(COL6A3):c.421G>A (p.Gly141Arg) http://identifiers.org/clinvar/94931 ^@ NM_004369.3(COL6A3):c.4285+17G>A http://identifiers.org/clinvar/94932 ^@ NM_004369.3(COL6A3):c.4285+9G>A http://identifiers.org/clinvar/94933 ^@ NM_004369.3(COL6A3):c.4311T>C (p.Ile1437=) http://identifiers.org/clinvar/94934 ^@ NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) http://identifiers.org/clinvar/94935 ^@ NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) http://identifiers.org/clinvar/94936 ^@ NM_004369.3(COL6A3):c.4533G>T (p.Gly1511=) http://identifiers.org/clinvar/94937 ^@ NM_004369.3(COL6A3):c.4683G>A (p.Gln1561=) http://identifiers.org/clinvar/94938 ^@ NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) http://identifiers.org/clinvar/94939 ^@ NM_004369.3(COL6A3):c.4848C>T (p.Ser1616=) http://identifiers.org/clinvar/94940 ^@ NM_004369.3(COL6A3):c.4873G>A (p.Val1625Met) http://identifiers.org/clinvar/94941 ^@ NM_004369.3(COL6A3):c.4895G>A (p.Arg1632Gln) http://identifiers.org/clinvar/94942 ^@ NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) http://identifiers.org/clinvar/94943 ^@ NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) http://identifiers.org/clinvar/94944 ^@ NM_004369.3(COL6A3):c.5170G>A (p.Glu1724Lys) http://identifiers.org/clinvar/94945 ^@ NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) http://identifiers.org/clinvar/94946 ^@ NM_004369.3(COL6A3):c.5418C>T (p.Ser1806=) http://identifiers.org/clinvar/94947 ^@ NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) http://identifiers.org/clinvar/94948 ^@ NM_004369.3(COL6A3):c.5750T>C (p.Met1917Thr) http://identifiers.org/clinvar/94949 ^@ NM_004369.3(COL6A3):c.5917+28G>C http://identifiers.org/clinvar/94950 ^@ NM_004369.3(COL6A3):c.6063+13dupT http://identifiers.org/clinvar/94951 ^@ NM_004369.3(COL6A3):c.6138C>T (p.Ile2046=) http://identifiers.org/clinvar/94952 ^@ NM_004369.3(COL6A3):c.6156+4C>T http://identifiers.org/clinvar/94953 ^@ NM_004369.3(COL6A3):c.6156+5G>A http://identifiers.org/clinvar/94954 ^@ NM_004369.3(COL6A3):c.6156G>C (p.Lys2052Asn) http://identifiers.org/clinvar/94955 ^@ NM_004369.3(COL6A3):c.6157-16G>A http://identifiers.org/clinvar/94956 ^@ NM_004369.3(COL6A3):c.6210+1G>A http://identifiers.org/clinvar/94957 ^@ NM_004369.3(COL6A3):c.6211-3C>T http://identifiers.org/clinvar/94958 ^@ NM_004369.3(COL6A3):c.6211-4A>G http://identifiers.org/clinvar/94959 ^@ NM_004369.3(COL6A3):c.6282+1G>A http://identifiers.org/clinvar/94960 ^@ NM_004369.3(COL6A3):c.6282+50C>T http://identifiers.org/clinvar/94961 ^@ NM_004369.3(COL6A3):c.6309+40C>T http://identifiers.org/clinvar/94962 ^@ NM_004369.3(COL6A3):c.6369G>A (p.Leu2123=) http://identifiers.org/clinvar/94963 ^@ NM_004369.3(COL6A3):c.6408+44A>G http://identifiers.org/clinvar/94964 ^@ NM_004369.3(COL6A3):c.6592-27delC http://identifiers.org/clinvar/94965 ^@ NM_004369.3(COL6A3):c.6622G>T (p.Ala2208Ser) http://identifiers.org/clinvar/94966 ^@ NM_004369.3(COL6A3):c.6628-47G>C http://identifiers.org/clinvar/94967 ^@ NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu) http://identifiers.org/clinvar/94968 ^@ NM_004369.3(COL6A3):c.6855G>C (p.Gly2285=) http://identifiers.org/clinvar/94969 ^@ NM_004369.3(COL6A3):c.6869G>T (p.Arg2290Leu) http://identifiers.org/clinvar/94970 ^@ NM_004369.3(COL6A3):c.686C>T (p.Thr229Met) http://identifiers.org/clinvar/94971 ^@ NM_004369.3(COL6A3):c.6879+49G>A http://identifiers.org/clinvar/94972 ^@ NM_004369.3(COL6A3):c.6880-47T>C http://identifiers.org/clinvar/94973 ^@ NM_004369.3(COL6A3):c.6930+28C>T http://identifiers.org/clinvar/94974 ^@ NM_004369.3(COL6A3):c.6930+43G>C http://identifiers.org/clinvar/94975 ^@ NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) http://identifiers.org/clinvar/94976 ^@ NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) http://identifiers.org/clinvar/94977 ^@ NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) http://identifiers.org/clinvar/94978 ^@ NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) http://identifiers.org/clinvar/94979 ^@ NM_004369.3(COL6A3):c.7092+26G>A http://identifiers.org/clinvar/94980 ^@ NM_004369.3(COL6A3):c.7162+48G>A http://identifiers.org/clinvar/94981 ^@ NM_004369.3(COL6A3):c.7174+4A>C http://identifiers.org/clinvar/94982 ^@ NM_004369.3(COL6A3):c.7175-32G>A http://identifiers.org/clinvar/94983 ^@ NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) http://identifiers.org/clinvar/94984 ^@ NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) http://identifiers.org/clinvar/94985 ^@ NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=) http://identifiers.org/clinvar/94986 ^@ NM_004369.3(COL6A3):c.7400C>T (p.Ser2467Leu) http://identifiers.org/clinvar/94987 ^@ NM_004369.3(COL6A3):c.74C>A (p.Ala25Asp) http://identifiers.org/clinvar/94988 ^@ NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) http://identifiers.org/clinvar/94989 ^@ NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) http://identifiers.org/clinvar/94990 ^@ NM_004369.3(COL6A3):c.7596G>A (p.Lys2532=) http://identifiers.org/clinvar/94991 ^@ NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) http://identifiers.org/clinvar/94992 ^@ NM_004369.3(COL6A3):c.7668+21G>C http://identifiers.org/clinvar/94993 ^@ NM_004369.3(COL6A3):c.7669-35C>T http://identifiers.org/clinvar/94994 ^@ NM_004369.3(COL6A3):c.7685T>C (p.Val2562Ala) http://identifiers.org/clinvar/94995 ^@ NM_004369.3(COL6A3):c.768C>T (p.Val256=) http://identifiers.org/clinvar/94996 ^@ NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) http://identifiers.org/clinvar/94997 ^@ NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) http://identifiers.org/clinvar/94998 ^@ NM_004369.3(COL6A3):c.7929G>A (p.Ala2643=) http://identifiers.org/clinvar/94999 ^@ NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) http://identifiers.org/clinvar/95000 ^@ NM_004369.3(COL6A3):c.8008G>A (p.Ala2670Thr) http://identifiers.org/clinvar/95001 ^@ NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) http://identifiers.org/clinvar/95002 ^@ NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) http://identifiers.org/clinvar/95003 ^@ NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) http://identifiers.org/clinvar/95004 ^@ NM_004369.3(COL6A3):c.8464+20G>C http://identifiers.org/clinvar/95005 ^@ NM_004369.3(COL6A3):c.8465-34C>T http://identifiers.org/clinvar/95006 ^@ NM_004369.3(COL6A3):c.8491G>C (p.Asp2831His) http://identifiers.org/clinvar/95007 ^@ NM_004369.3(COL6A3):c.862G>A (p.Asp288Asn) http://identifiers.org/clinvar/95008 ^@ NM_004369.3(COL6A3):c.8780T>C (p.Met2927Thr) http://identifiers.org/clinvar/95009 ^@ NM_004369.3(COL6A3):c.8820G>A (p.Thr2940=) http://identifiers.org/clinvar/95010 ^@ NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) http://identifiers.org/clinvar/95011 ^@ NM_004369.3(COL6A3):c.882C>T (p.Phe294=) http://identifiers.org/clinvar/95012 ^@ NM_004369.3(COL6A3):c.8877_8879delTGC (p.Ala2960del) http://identifiers.org/clinvar/95013 ^@ NM_004369.3(COL6A3):c.8962A>G (p.Met2988Val) http://identifiers.org/clinvar/95014 ^@ NM_004369.3(COL6A3):c.9034G>C (p.Ala3012Pro) http://identifiers.org/clinvar/95015 ^@ NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) http://identifiers.org/clinvar/95016 ^@ NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) http://identifiers.org/clinvar/95017 ^@ NM_004369.3(COL6A3):c.9129C>T (p.Arg3043=) http://identifiers.org/clinvar/95018 ^@ NM_004369.3(COL6A3):c.9206C>T (p.Thr3069Ile) http://identifiers.org/clinvar/95019 ^@ NM_004369.3(COL6A3):c.9213C>T (p.His3071=) http://identifiers.org/clinvar/95020 ^@ NM_004369.3(COL6A3):c.9329-33C>T http://identifiers.org/clinvar/95021 ^@ NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) http://identifiers.org/clinvar/95022 ^@ NM_004369.3(COL6A3):c.9494-26C>T http://identifiers.org/clinvar/95023 ^@ NM_004380.2(CREBBP):c.1149G>A (p.Pro383=) http://identifiers.org/clinvar/95024 ^@ NM_004380.2(CREBBP):c.1369A>G (p.Ile457Val) http://identifiers.org/clinvar/95025 ^@ NM_004380.2(CREBBP):c.1618C>A (p.Gln540Lys) http://identifiers.org/clinvar/95026 ^@ NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) http://identifiers.org/clinvar/95027 ^@ NM_004380.2(CREBBP):c.1669delG (p.Ala557Profs) http://identifiers.org/clinvar/95028 ^@ NM_004380.2(CREBBP):c.1676+18A>T http://identifiers.org/clinvar/95029 ^@ NM_004380.2(CREBBP):c.1932_1934delCAA (p.Asn645del) http://identifiers.org/clinvar/95030 ^@ NM_004380.2(CREBBP):c.2034C>T (p.Ile678=) http://identifiers.org/clinvar/95031 ^@ NM_004380.2(CREBBP):c.2112A>G (p.Pro704=) http://identifiers.org/clinvar/95032 ^@ NM_004380.2(CREBBP):c.2312A>G (p.Gln771Arg) http://identifiers.org/clinvar/95033 ^@ NM_004380.2(CREBBP):c.2415G>A (p.Ala805=) http://identifiers.org/clinvar/95034 ^@ NM_004380.2(CREBBP):c.2572C>T (p.Pro858Ser) http://identifiers.org/clinvar/95035 ^@ NM_004380.2(CREBBP):c.2678C>T (p.Ser893Leu) http://identifiers.org/clinvar/95036 ^@ NM_004380.2(CREBBP):c.2811G>A (p.Pro937=) http://identifiers.org/clinvar/95037 ^@ NM_004380.2(CREBBP):c.2941G>A (p.Ala981Thr) http://identifiers.org/clinvar/95038 ^@ NM_004380.2(CREBBP):c.2950A>T (p.Asn984Tyr) http://identifiers.org/clinvar/95039 ^@ NM_004380.2(CREBBP):c.2973C>T (p.Asp991=) http://identifiers.org/clinvar/95040 ^@ NM_004380.2(CREBBP):c.2974G>A (p.Val992Ile) http://identifiers.org/clinvar/95041 ^@ NM_004380.2(CREBBP):c.3060+10G>A http://identifiers.org/clinvar/95042 ^@ NM_004380.2(CREBBP):c.3128C>T (p.Ser1043Leu) http://identifiers.org/clinvar/95043 ^@ NM_004380.2(CREBBP):c.3337C>T (p.Gln1113Ter) http://identifiers.org/clinvar/95044 ^@ NM_004380.2(CREBBP):c.333C>T (p.Asn111=) http://identifiers.org/clinvar/95045 ^@ NM_004380.2(CREBBP):c.3837-8C>T http://identifiers.org/clinvar/95046 ^@ NM_004380.2(CREBBP):c.3982+1G>A http://identifiers.org/clinvar/95047 ^@ NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) http://identifiers.org/clinvar/95048 ^@ NM_004380.2(CREBBP):c.4481C>G (p.Pro1494Arg) http://identifiers.org/clinvar/95049 ^@ NM_004380.2(CREBBP):c.459G>A (p.Pro153=) http://identifiers.org/clinvar/95050 ^@ NM_004380.2(CREBBP):c.4822C>A (p.Pro1608Thr) http://identifiers.org/clinvar/95051 ^@ NM_004380.2(CREBBP):c.504G>A (p.Thr168=) http://identifiers.org/clinvar/95052 ^@ NM_004380.2(CREBBP):c.5052C>T (p.Ser1684=) http://identifiers.org/clinvar/95053 ^@ NM_004380.2(CREBBP):c.5361C>T (p.Asn1787=) http://identifiers.org/clinvar/95054 ^@ NM_004380.2(CREBBP):c.5436C>G (p.Thr1812=) http://identifiers.org/clinvar/95055 ^@ NM_004380.2(CREBBP):c.5599C>G (p.Arg1867Gly) http://identifiers.org/clinvar/95056 ^@ NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) http://identifiers.org/clinvar/95057 ^@ NM_004380.2(CREBBP):c.5933A>G (p.Asn1978Ser) http://identifiers.org/clinvar/95058 ^@ NM_004380.2(CREBBP):c.5988C>T (p.Ala1996=) http://identifiers.org/clinvar/95059 ^@ NM_004380.2(CREBBP):c.6003T>C (p.Asn2001=) http://identifiers.org/clinvar/95060 ^@ NM_004380.2(CREBBP):c.6550A>G (p.Ser2184Gly) http://identifiers.org/clinvar/95061 ^@ NM_004380.2(CREBBP):c.6564G>A (p.Gln2188=) http://identifiers.org/clinvar/95062 ^@ NM_004380.2(CREBBP):c.6609A>G (p.Gln2203=) http://identifiers.org/clinvar/95063 ^@ NM_004380.2(CREBBP):c.6621A>G (p.Gln2207=) http://identifiers.org/clinvar/95064 ^@ NM_004380.2(CREBBP):c.6624A>G (p.Gln2208=) http://identifiers.org/clinvar/95065 ^@ NM_004380.2(CREBBP):c.6685G>A (p.Gly2229Ser) http://identifiers.org/clinvar/95066 ^@ NM_004380.2(CREBBP):c.6711C>T (p.Pro2237=) http://identifiers.org/clinvar/95067 ^@ NM_004380.2(CREBBP):c.7212A>G (p.Glu2404=) http://identifiers.org/clinvar/95068 ^@ NM_004380.2(CREBBP):c.753T>G (p.Thr251=) http://identifiers.org/clinvar/95069 ^@ NM_004380.2(CREBBP):c.910delG (p.Val304Serfs) http://identifiers.org/clinvar/95070 ^@ NM_004380.2(CREBBP):c.939T>C (p.Asp313=) http://identifiers.org/clinvar/95071 ^@ NM_004453.3(ETFDH):c.1234G>T (p.Glu412Ter) http://identifiers.org/clinvar/95072 ^@ NM_004453.3(ETFDH):c.1367C>T (p.Pro456Leu) http://identifiers.org/clinvar/95073 ^@ NM_004453.3(ETFDH):c.1823delG (p.Gly608Valfs) http://identifiers.org/clinvar/95074 ^@ NM_004453.3(ETFDH):c.808A>G (p.Thr270Ala) http://identifiers.org/clinvar/95075 ^@ NM_004453.3(ETFDH):c.92C>T (p.Thr31Ile) http://identifiers.org/clinvar/95076 ^@ NM_004463.2(FGD1):c.*36C>T http://identifiers.org/clinvar/95077 ^@ NM_004463.2(FGD1):c.-4G>C http://identifiers.org/clinvar/95078 ^@ NM_004463.2(FGD1):c.110C>T (p.Ala37Val) http://identifiers.org/clinvar/95079 ^@ NM_004463.2(FGD1):c.1287T>G (p.Tyr429Ter) http://identifiers.org/clinvar/95080 ^@ NM_004463.2(FGD1):c.1468C>T (p.Gln490Ter) http://identifiers.org/clinvar/95081 ^@ NM_004463.2(FGD1):c.1556G>A (p.Arg519His) http://identifiers.org/clinvar/95082 ^@ NM_004463.2(FGD1):c.1558A>T (p.Ile520Phe) http://identifiers.org/clinvar/95083 ^@ NM_004463.2(FGD1):c.1563C>T (p.Pro521=) http://identifiers.org/clinvar/95084 ^@ NM_004463.2(FGD1):c.1564C>A (p.Arg522Ser) http://identifiers.org/clinvar/95085 ^@ NM_004463.2(FGD1):c.175C>T (p.Gln59Ter) http://identifiers.org/clinvar/95086 ^@ NM_004463.2(FGD1):c.2091T>C (p.Thr697=) http://identifiers.org/clinvar/95087 ^@ NM_004463.2(FGD1):c.2112_2113insTT (p.Asn705Leufs) http://identifiers.org/clinvar/95088 ^@ NM_004463.2(FGD1):c.2135dupC (p.Pro713Thrfs) http://identifiers.org/clinvar/95089 ^@ NM_004463.2(FGD1):c.2136A>G (p.Pro712=) http://identifiers.org/clinvar/95090 ^@ NM_004463.2(FGD1):c.2257T>G (p.Cys753Gly) http://identifiers.org/clinvar/95091 ^@ NM_004463.2(FGD1):c.2289G>A (p.Lys763=) http://identifiers.org/clinvar/95092 ^@ NM_004463.2(FGD1):c.395G>A (p.Arg132Gln) http://identifiers.org/clinvar/95093 ^@ NM_004463.2(FGD1):c.574C>T (p.Pro192Ser) http://identifiers.org/clinvar/95094 ^@ NM_004463.2(FGD1):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/95095 ^@ NM_004463.2(FGD1):c.898G>A (p.Val300Ile) http://identifiers.org/clinvar/95096 ^@ NM_004473.3(FOXE1):c.387T>C (p.Leu129=) http://identifiers.org/clinvar/95097 ^@ NM_004473.3(FOXE1):c.532_537delGCCGCC (p.Ala178_Ala179del) http://identifiers.org/clinvar/95098 ^@ NM_004473.3(FOXE1):c.825C>T (p.Ser275=) http://identifiers.org/clinvar/95099 ^@ NM_004484.3(GPC3):c.171G>A (p.Val57=) http://identifiers.org/clinvar/95100 ^@ NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) http://identifiers.org/clinvar/95101 ^@ NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) http://identifiers.org/clinvar/95102 ^@ NM_004543.4(NEB):c.10080G>C (p.Trp3360Cys) http://identifiers.org/clinvar/95103 ^@ NM_001271208.1(NEB):c.12147G>A (p.Lys4049=) http://identifiers.org/clinvar/95104 ^@ NM_001271208.1(NEB):c.1152+1G>A http://identifiers.org/clinvar/95105 ^@ NM_001271208.1(NEB):c.16705-18C>T http://identifiers.org/clinvar/95106 ^@ NM_004543.4(NEB):c.11808A>G (p.Pro3936=) http://identifiers.org/clinvar/95107 ^@ NM_004543.4(NEB):c.12C>T (p.Asp4=) http://identifiers.org/clinvar/95108 ^@ NM_004543.4(NEB):c.13191T>C (p.Tyr4397=) http://identifiers.org/clinvar/95109 ^@ NM_004543.4(NEB):c.13202G>C (p.Arg4401Thr) http://identifiers.org/clinvar/95110 ^@ NM_001271208.1(NEB):c.19455G>A (p.Lys6485=) http://identifiers.org/clinvar/95111 ^@ NM_004543.4(NEB):c.15364-4T>A http://identifiers.org/clinvar/95112 ^@ NM_001271208.1(NEB):c.21523-6delA http://identifiers.org/clinvar/95113 ^@ NM_004543.4(NEB):c.16443C>T (p.Asn5481=) http://identifiers.org/clinvar/95114 ^@ NM_004543.4(NEB):c.16482A>G (p.Thr5494=) http://identifiers.org/clinvar/95115 ^@ NM_001271208.1(NEB):c.169_183delCTGGCACAGCCAGCA (p.Leu57_Ala61del) http://identifiers.org/clinvar/95116 ^@ NM_001271208.1(NEB):c.22266+18G>C http://identifiers.org/clinvar/95117 ^@ NM_001271208.1(NEB):c.1782+4_1782+5del http://identifiers.org/clinvar/95118 ^@ NM_001271208.1(NEB):c.23383A>G (p.Asn7795Asp) http://identifiers.org/clinvar/95119 ^@ NM_001271208.1(NEB):c.23753C>T (p.Ser7918Leu) http://identifiers.org/clinvar/95120 ^@ NM_004543.4(NEB):c.18865G>C (p.Ala6289Pro) http://identifiers.org/clinvar/95121 ^@ NM_001271208.1(NEB):c.24614G>A (p.Gly8205Glu) http://identifiers.org/clinvar/95122 ^@ NM_001271208.1(NEB):c.24871-18C>T http://identifiers.org/clinvar/95123 ^@ NM_001271208.1(NEB):c.25140C>T (p.Asp8380=) http://identifiers.org/clinvar/95124 ^@ NM_004543.4(NEB):c.19470A>G (p.Gln6490=) http://identifiers.org/clinvar/95125 ^@ NM_001271208.1(NEB):c.195G>A (p.Pro65=) http://identifiers.org/clinvar/95126 ^@ NM_004543.4(NEB):c.19636A>G (p.Ile6546Val) http://identifiers.org/clinvar/95127 ^@ NM_001271208.1(NEB):c.2943G>A (p.Glu981=) http://identifiers.org/clinvar/95128 ^@ NM_004543.4(NEB):c.3081A>T (p.Lys1027Asn) http://identifiers.org/clinvar/95129 ^@ NM_004543.4(NEB):c.3191A>G (p.Tyr1064Cys) http://identifiers.org/clinvar/95130 ^@ NM_001271208.1(NEB):c.4018A>C (p.Lys1340Gln) http://identifiers.org/clinvar/95131 ^@ NM_004543.4(NEB):c.4471G>A (p.Val1491Met) http://identifiers.org/clinvar/95132 ^@ NM_004543.4(NEB):c.4649A>G (p.Lys1550Arg) http://identifiers.org/clinvar/95133 ^@ NM_001271208.1(NEB):c.6069G>A (p.Met2023Ile) http://identifiers.org/clinvar/95134 ^@ NM_004543.4(NEB):c.7310G>A (p.Arg2437Gln) http://identifiers.org/clinvar/95135 ^@ NM_001271208.1(NEB):c.7514C>A (p.Ala2505Glu) http://identifiers.org/clinvar/95136 ^@ NM_004543.4(NEB):c.771T>C (p.Ala257=) http://identifiers.org/clinvar/95137 ^@ NM_004543.4(NEB):c.7839G>C (p.Lys2613Asn) http://identifiers.org/clinvar/95138 ^@ NM_001271208.1(NEB):c.8031_8041delAAATAAACGAG (p.Lys2677Asnfs) http://identifiers.org/clinvar/95139 ^@ NM_001271208.1(NEB):c.8072G>A (p.Arg2691His) http://identifiers.org/clinvar/95140 ^@ NM_001271208.1(NEB):c.8353T>C (p.Ser2785Pro) http://identifiers.org/clinvar/95141 ^@ NM_004543.4(NEB):c.9136G>A (p.Gly3046Ser) http://identifiers.org/clinvar/95142 ^@ NM_004565.2(PEX14):c.21A>C (p.Ala7=) http://identifiers.org/clinvar/95143 ^@ NM_004565.2(PEX14):c.267C>G (p.Val89=) http://identifiers.org/clinvar/95144 ^@ NM_004565.2(PEX14):c.360A>G (p.Ala120=) http://identifiers.org/clinvar/95145 ^@ NM_004565.2(PEX14):c.384+14A>T http://identifiers.org/clinvar/95146 ^@ NM_004565.2(PEX14):c.474C>A (p.Ser158Arg) http://identifiers.org/clinvar/95147 ^@ NM_004586.2(RPS6KA3):c.113T>G (p.Ile38Ser) http://identifiers.org/clinvar/95148 ^@ NM_004586.2(RPS6KA3):c.185delA (p.Lys62Argfs) http://identifiers.org/clinvar/95149 ^@ NM_004586.2(RPS6KA3):c.285G>A (p.Gln95=) http://identifiers.org/clinvar/95150 ^@ NM_004586.2(RPS6KA3):c.632-1G>C http://identifiers.org/clinvar/95151 ^@ NM_004586.2(RPS6KA3):c.718_721delGTTA (p.Val240Ilefs) http://identifiers.org/clinvar/95152 ^@ NM_004586.2(RPS6KA3):c.798C>A (p.Leu266=) http://identifiers.org/clinvar/95153 ^@ NM_004595.4(SMS):c.104T>A (p.Met35Lys) http://identifiers.org/clinvar/95154 ^@ NM_004606.4(TAF1):c.868C>G (p.Leu290Val) http://identifiers.org/clinvar/95155 ^@ NM_004615.3(TSPAN7):c.-15_-13delCCG http://identifiers.org/clinvar/95158 ^@ NM_004698.2(PRPF3):c.1032A>G (p.Thr344=) http://identifiers.org/clinvar/95159 ^@ NM_004737.5(LARGE1):c.-31G>A http://identifiers.org/clinvar/95160 ^@ NM_004737.5(LARGE1):c.1102C>T (p.Gln368Ter) http://identifiers.org/clinvar/95161 ^@ NM_004737.5(LARGE1):c.1116C>T (p.Asp372=) http://identifiers.org/clinvar/95162 ^@ NM_004737.5(LARGE1):c.118G>A (p.Val40Met) http://identifiers.org/clinvar/95163 ^@ NM_004737.5(LARGE1):c.1287+11C>T http://identifiers.org/clinvar/95164 ^@ NM_004737.5(LARGE1):c.1420G>A (p.Val474Ile) http://identifiers.org/clinvar/95165 ^@ NM_004737.5(LARGE1):c.1452-28C>T http://identifiers.org/clinvar/95166 ^@ NM_004737.5(LARGE1):c.1548C>T (p.Tyr516=) http://identifiers.org/clinvar/95167 ^@ NM_004737.5(LARGE1):c.1644C>T (p.Asn548=) http://identifiers.org/clinvar/95168 ^@ NM_004737.5(LARGE1):c.1731-24T>C http://identifiers.org/clinvar/95169 ^@ NM_004737.5(LARGE1):c.1827A>G (p.Ser609=) http://identifiers.org/clinvar/95170 ^@ NM_004737.5(LARGE1):c.1949G>A (p.Arg650Gln) http://identifiers.org/clinvar/95171 ^@ NM_004737.5(LARGE1):c.1994G>A (p.Arg665His) http://identifiers.org/clinvar/95172 ^@ NM_004737.5(LARGE1):c.2100C>T (p.Asn700=) http://identifiers.org/clinvar/95173 ^@ NM_004737.5(LARGE1):c.251G>C (p.Ser84Thr) http://identifiers.org/clinvar/95174 ^@ NM_004737.5(LARGE1):c.309C>T (p.Ser103=) http://identifiers.org/clinvar/95175 ^@ NM_004737.5(LARGE1):c.435C>T (p.Ala145=) http://identifiers.org/clinvar/95176 ^@ NM_004737.5(LARGE1):c.576C>T (p.Pro192=) http://identifiers.org/clinvar/95177 ^@ NM_004737.5(LARGE1):c.892+50C>T http://identifiers.org/clinvar/95178 ^@ NM_004744.4(LRAT):c.588dupT (p.Ala197Cysfs) http://identifiers.org/clinvar/95179 ^@ NM_004840.2(ARHGEF6):c.455C>T (p.Thr152Ile) http://identifiers.org/clinvar/95180 ^@ NM_004870.3(MPDU1):c.403G>C (p.Ala135Pro) http://identifiers.org/clinvar/95181 ^@ NM_004870.3(MPDU1):c.685G>A (p.Ala229Thr) http://identifiers.org/clinvar/95182 ^@ NM_004992.3(MECP2):c.*14G>A http://identifiers.org/clinvar/95183 ^@ NM_004992.3(MECP2):c.1071C>T (p.Ser357=) http://identifiers.org/clinvar/95184 ^@ NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) http://identifiers.org/clinvar/95185 ^@ NM_004992.3(MECP2):c.1137C>T (p.Pro379=) http://identifiers.org/clinvar/95186 ^@ NM_004992.3(MECP2):c.1161C>T (p.Pro387=) http://identifiers.org/clinvar/95187 ^@ NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) http://identifiers.org/clinvar/95188 ^@ NM_004992.3(MECP2):c.1197C>T (p.Pro399=) http://identifiers.org/clinvar/95189 ^@ NM_004992.3(MECP2):c.1233C>T (p.Ser411=) http://identifiers.org/clinvar/95190 ^@ NM_001110792.1(MECP2):c.1351G>T (p.Ala451Ser) http://identifiers.org/clinvar/95191 ^@ NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) http://identifiers.org/clinvar/95192 ^@ NM_004992.3(MECP2):c.1335G>A (p.Thr445=) http://identifiers.org/clinvar/95193 ^@ NM_004992.3(MECP2):c.1373G>A (p.Arg458His) http://identifiers.org/clinvar/95194 ^@ NM_004992.3(MECP2):c.375C>A (p.Ile125=) http://identifiers.org/clinvar/95195 ^@ NM_004992.3(MECP2):c.426C>T (p.Phe142=) http://identifiers.org/clinvar/95196 ^@ NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) http://identifiers.org/clinvar/95197 ^@ NM_004992.3(MECP2):c.582C>T (p.Ser194=) http://identifiers.org/clinvar/95198 ^@ NM_004992.3(MECP2):c.608C>T (p.Thr203Met) http://identifiers.org/clinvar/95199 ^@ NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) http://identifiers.org/clinvar/95200 ^@ NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) http://identifiers.org/clinvar/95201 ^@ NM_004992.3(MECP2):c.777C>T (p.Ala259=) http://identifiers.org/clinvar/95202 ^@ NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) http://identifiers.org/clinvar/95203 ^@ NM_004992.3(MECP2):c.815C>T (p.Pro272Leu) http://identifiers.org/clinvar/95204 ^@ NM_001110792.1(MECP2):c.897C>T (p.Ala299=) http://identifiers.org/clinvar/95205 ^@ NM_004992.3(MECP2):c.897C>T (p.Thr299=) http://identifiers.org/clinvar/95206 ^@ NM_001110792.1(MECP2):c.126G>A (p.Lys42=) http://identifiers.org/clinvar/95207 ^@ NM_001110792.1(MECP2):c.972C>T (p.Val324=) http://identifiers.org/clinvar/95209 ^@ NM_005045.3(RELN):c.10074A>G (p.Ala3358=) http://identifiers.org/clinvar/95210 ^@ NM_005045.3(RELN):c.1290-3dupT http://identifiers.org/clinvar/95211 ^@ NM_005045.3(RELN):c.139G>A (p.Glu47Lys) http://identifiers.org/clinvar/95212 ^@ NM_005045.3(RELN):c.1596G>A (p.Gln532=) http://identifiers.org/clinvar/95213 ^@ NM_005045.3(RELN):c.1799C>T (p.Ser600Phe) http://identifiers.org/clinvar/95214 ^@ NM_005045.3(RELN):c.1892G>A (p.Gly631Glu) http://identifiers.org/clinvar/95215 ^@ NM_005045.3(RELN):c.2376T>C (p.Gly792=) http://identifiers.org/clinvar/95216 ^@ NM_005045.3(RELN):c.2446C>T (p.Leu816Phe) http://identifiers.org/clinvar/95217 ^@ NM_005045.3(RELN):c.26A>C (p.Gln9Pro) http://identifiers.org/clinvar/95218 ^@ NM_005045.3(RELN):c.3651C>G (p.Ile1217Met) http://identifiers.org/clinvar/95219 ^@ NM_005045.3(RELN):c.3839G>A (p.Gly1280Glu) http://identifiers.org/clinvar/95220 ^@ NM_005045.3(RELN):c.4337A>G (p.Asn1446Ser) http://identifiers.org/clinvar/95221 ^@ NM_005045.3(RELN):c.474-7T>C http://identifiers.org/clinvar/95222 ^@ NM_005045.3(RELN):c.5643G>A (p.Leu1881=) http://identifiers.org/clinvar/95223 ^@ NM_005045.3(RELN):c.5711C>T (p.Thr1904Met) http://identifiers.org/clinvar/95224 ^@ NM_005045.3(RELN):c.578-3T>C http://identifiers.org/clinvar/95225 ^@ NM_005045.3(RELN):c.6084C>T (p.Gly2028=) http://identifiers.org/clinvar/95226 ^@ NM_005045.3(RELN):c.6647G>A (p.Arg2216Gln) http://identifiers.org/clinvar/95227 ^@ NM_005045.3(RELN):c.6702T>C (p.Cys2234=) http://identifiers.org/clinvar/95228 ^@ NM_005045.3(RELN):c.7110T>C (p.Val2370=) http://identifiers.org/clinvar/95229 ^@ NM_005045.3(RELN):c.7438G>A (p.Gly2480Ser) http://identifiers.org/clinvar/95230 ^@ NM_005045.3(RELN):c.8046T>C (p.His2682=) http://identifiers.org/clinvar/95231 ^@ NM_005045.3(RELN):c.8136A>G (p.Leu2712=) http://identifiers.org/clinvar/95232 ^@ NM_005045.3(RELN):c.831T>C (p.Tyr277=) http://identifiers.org/clinvar/95233 ^@ NM_005045.3(RELN):c.8508C>T (p.Phe2836=) http://identifiers.org/clinvar/95234 ^@ NM_005045.3(RELN):c.8843+7G>C http://identifiers.org/clinvar/95235 ^@ NM_005045.3(RELN):c.9339T>C (p.Ile3113=) http://identifiers.org/clinvar/95236 ^@ NM_005045.3(RELN):c.9340A>G (p.Ile3114Val) http://identifiers.org/clinvar/95237 ^@ NM_005045.3(RELN):c.9370-10T>G http://identifiers.org/clinvar/95238 ^@ NM_005045.3(RELN):c.9370-13_9370-8delATGTTT http://identifiers.org/clinvar/95239 ^@ NM_005045.3(RELN):c.9763+3C>G http://identifiers.org/clinvar/95240 ^@ NM_005045.3(RELN):c.9825C>T (p.Ser3275=) http://identifiers.org/clinvar/95245 ^@ NM_005105.4(RBM8A):c.*6C>G http://identifiers.org/clinvar/95246 ^@ NM_005120.2(MED12):c.2849+14C>T http://identifiers.org/clinvar/95247 ^@ NM_005120.2(MED12):c.3844G>A (p.Val1282Met) http://identifiers.org/clinvar/95248 ^@ NM_005120.2(MED12):c.3930A>C (p.Pro1310=) http://identifiers.org/clinvar/95249 ^@ NM_005120.2(MED12):c.4416-20_4416-16delCTTCT http://identifiers.org/clinvar/95250 ^@ NM_005120.2(MED12):c.4416-20_4416-16dupCTTCT http://identifiers.org/clinvar/95251 ^@ NM_005120.2(MED12):c.4416-45_4416-16delCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT http://identifiers.org/clinvar/95252 ^@ NM_005120.2(MED12):c.4971T>C (p.Leu1657=) http://identifiers.org/clinvar/95253 ^@ NM_005120.2(MED12):c.5316G>A (p.Pro1772=) http://identifiers.org/clinvar/95254 ^@ NM_005120.2(MED12):c.5535C>T (p.Asn1845=) http://identifiers.org/clinvar/95255 ^@ NM_005120.2(MED12):c.5711C>T (p.Ala1904Val) http://identifiers.org/clinvar/95256 ^@ NM_005120.2(MED12):c.6348_6359dupCCAGCAGCAACA (p.Gln2119_Gln2120insHisGlnGlnGln) http://identifiers.org/clinvar/95257 ^@ NM_005120.2(MED12):c.736-8A>C http://identifiers.org/clinvar/95258 ^@ NM_001077482.2(NR1I3):c.*8C>T http://identifiers.org/clinvar/95259 ^@ NM_001077482.2(NR1I3):c.944+17A>C http://identifiers.org/clinvar/95260 ^@ NM_005148.3(UNC119):c.600C>T (p.Ser200=) http://identifiers.org/clinvar/95261 ^@ NM_005216.4(DDOST):c.697-16C>T http://identifiers.org/clinvar/95262 ^@ NM_005216.4(DDOST):c.762C>T (p.Arg254=) http://identifiers.org/clinvar/95263 ^@ NM_005249.4(FOXG1):c.*13C>A http://identifiers.org/clinvar/95264 ^@ NM_005249.4(FOXG1):c.1233G>A (p.Ala411=) http://identifiers.org/clinvar/95265 ^@ NM_005249.4(FOXG1):c.218_220dupAGC (p.Gln73_Pro74insGln) http://identifiers.org/clinvar/95266 ^@ NM_005249.4(FOXG1):c.256C>A (p.Gln86Lys) http://identifiers.org/clinvar/95267 ^@ NM_005249.4(FOXG1):c.326C>T (p.Pro109Leu) http://identifiers.org/clinvar/95268 ^@ NM_005249.4(FOXG1):c.460dupG (p.Glu154Glyfs) http://identifiers.org/clinvar/95269 ^@ NM_005249.4(FOXG1):c.471G>T (p.Lys157Asn) http://identifiers.org/clinvar/95270 ^@ NM_005270.4(GLI2):c.3349G>T (p.Val1117Leu) http://identifiers.org/clinvar/95271 ^@ NM_005270.4(GLI2):c.3466G>T (p.Ala1156Ser) http://identifiers.org/clinvar/95272 ^@ NM_005270.4(GLI2):c.3916G>A (p.Asp1306Asn) http://identifiers.org/clinvar/95273 ^@ NM_005270.4(GLI2):c.3939A>G (p.Pro1313=) http://identifiers.org/clinvar/95274 ^@ NM_005270.4(GLI2):c.3943C>T (p.Pro1315Ser) http://identifiers.org/clinvar/95275 ^@ NM_001122608.2(HCCS):c.521C>T (p.Ala174Val) http://identifiers.org/clinvar/95276 ^@ NM_005334.2(HCFC1):c.1200T>C (p.Tyr400=) http://identifiers.org/clinvar/95277 ^@ NM_005334.2(HCFC1):c.2841A>G (p.Pro947=) http://identifiers.org/clinvar/95278 ^@ NM_005334.2(HCFC1):c.3490T>C (p.Ser1164Pro) http://identifiers.org/clinvar/95279 ^@ NM_005334.2(HCFC1):c.3550G>A (p.Gly1184Arg) http://identifiers.org/clinvar/95280 ^@ NM_005334.2(HCFC1):c.4185G>A (p.Ala1395=) http://identifiers.org/clinvar/95281 ^@ NM_005334.2(HCFC1):c.5859C>T (p.Cys1953=) http://identifiers.org/clinvar/95282 ^@ NM_001128227.2(GNE):c.1863C>T (p.Tyr621=) http://identifiers.org/clinvar/95283 ^@ NM_005477.2(HCN4):c.1371+9G>A http://identifiers.org/clinvar/95284 ^@ NM_005477.2(HCN4):c.2556G>A (p.Pro852=) http://identifiers.org/clinvar/95285 ^@ NM_005477.2(HCN4):c.3600A>G (p.Pro1200=) http://identifiers.org/clinvar/95286 ^@ NM_005477.2(HCN4):c.36C>G (p.Leu12=) http://identifiers.org/clinvar/95287 ^@ NM_170707.3(LMNA):c.1422_1424dupAGA (p.Gly474_Asp475insGlu) http://identifiers.org/clinvar/95288 ^@ NM_005572.3(LMNA):c.148C>T (p.Arg50Cys) http://identifiers.org/clinvar/95289 ^@ NM_005609.3(PYGM):c.1240C>G (p.Arg414Gly) http://identifiers.org/clinvar/95290 ^@ NM_005609.3(PYGM):c.1366G>A (p.Val456Met) http://identifiers.org/clinvar/95291 ^@ NM_005609.3(PYGM):c.1466C>G (p.Pro489Arg) http://identifiers.org/clinvar/95292 ^@ NM_005609.3(PYGM):c.1494C>T (p.Pro498=) http://identifiers.org/clinvar/95293 ^@ NM_005609.3(PYGM):c.1569C>G (p.Leu523=) http://identifiers.org/clinvar/95294 ^@ NM_005609.3(PYGM):c.1827+7A>G http://identifiers.org/clinvar/95295 ^@ NM_005609.3(PYGM):c.1957C>G (p.Leu653Val) http://identifiers.org/clinvar/95296 ^@ NM_005609.3(PYGM):c.2262delA (p.Lys754Asnfs) http://identifiers.org/clinvar/95297 ^@ NM_005609.3(PYGM):c.2447G>A (p.Arg816His) http://identifiers.org/clinvar/95298 ^@ NM_005609.3(PYGM):c.577G>T (p.Ala193Ser) http://identifiers.org/clinvar/95299 ^@ NM_005609.3(PYGM):c.645G>A (p.Lys215=) http://identifiers.org/clinvar/95300 ^@ NM_005609.3(PYGM):c.661-5C>G http://identifiers.org/clinvar/95301 ^@ NM_005609.3(PYGM):c.999+20C>T http://identifiers.org/clinvar/95302 ^@ NM_005634.2(SOX3):c.307C>A (p.Pro103Thr) http://identifiers.org/clinvar/95303 ^@ NM_005634.2(SOX3):c.609T>C (p.Tyr203=) http://identifiers.org/clinvar/95304 ^@ NM_005634.2(SOX3):c.732A>C (p.Ala244=) http://identifiers.org/clinvar/95305 ^@ NM_005634.2(SOX3):c.735_737dupCGC (p.Ala248_Ser249insAla) http://identifiers.org/clinvar/95306 ^@ NM_005670.3(EPM2A):c.159C>G (p.Ala53=) http://identifiers.org/clinvar/95307 ^@ NM_005676.4(RBM10):c.1269T>C (p.Gly423=) http://identifiers.org/clinvar/95308 ^@ NM_005710.2(PQBP1):c.*6C>T http://identifiers.org/clinvar/95309 ^@ NM_005710.2(PQBP1):c.180-3C>T http://identifiers.org/clinvar/95310 ^@ NM_005710.2(PQBP1):c.264G>A (p.Ser88=) http://identifiers.org/clinvar/95311 ^@ NM_005765.2(ATP6AP2):c.268C>G (p.Pro90Ala) http://identifiers.org/clinvar/95312 ^@ NM_005765.2(ATP6AP2):c.765T>C (p.Tyr255=) http://identifiers.org/clinvar/95313 ^@ NM_005802.4(TOPORS):c.2319T>C (p.Ser773=) http://identifiers.org/clinvar/95314 ^@ NM_005802.4(TOPORS):c.2547A>G (p.Ser849=) http://identifiers.org/clinvar/95315 ^@ NM_005802.4(TOPORS):c.2991T>C (p.Asp997=) http://identifiers.org/clinvar/95316 ^@ NM_005857.4(ZMPSTE24):c.651T>C (p.Asp217=) http://identifiers.org/clinvar/95317 ^@ NM_005881.3(BCKDK):c.1149_1163delTCTGCAGCTGCAGTC (p.Leu386_Gln390del) http://identifiers.org/clinvar/95318 ^@ NM_005908.3(MANBA):c.2015-28G>A http://identifiers.org/clinvar/95319 ^@ NM_005908.3(MANBA):c.2102C>T (p.Thr701Met) http://identifiers.org/clinvar/95320 ^@ NM_005908.3(MANBA):c.2368T>C (p.Leu790=) http://identifiers.org/clinvar/95321 ^@ NM_005908.3(MANBA):c.850-31T>C http://identifiers.org/clinvar/95322 ^@ NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) http://identifiers.org/clinvar/95323 ^@ NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) http://identifiers.org/clinvar/95324 ^@ NM_006005.3(WFS1):c.2500G>A (p.Gly834Ser) http://identifiers.org/clinvar/95325 ^@ NM_006005.3(WFS1):c.2611G>A (p.Val871Met) http://identifiers.org/clinvar/95326 ^@ NM_001009932.1(DNASE1L1):c.*1851C>T http://identifiers.org/clinvar/95327 ^@ NM_006013.4(RPL10):c.605G= (p.Ser202=) http://identifiers.org/clinvar/95328 ^@ NM_006017.2(PROM1):c.1003-6T>G http://identifiers.org/clinvar/95329 ^@ NM_006017.2(PROM1):c.1977C>T (p.Asn659=) http://identifiers.org/clinvar/95330 ^@ NM_006017.2(PROM1):c.2281-6C>G http://identifiers.org/clinvar/95331 ^@ NM_006017.2(PROM1):c.228G>A (p.Leu76=) http://identifiers.org/clinvar/95332 ^@ NM_006017.2(PROM1):c.2320G>A (p.Ala774Thr) http://identifiers.org/clinvar/95333 ^@ NM_006017.2(PROM1):c.2374-4dupC http://identifiers.org/clinvar/95334 ^@ NM_006017.2(PROM1):c.2374-6T>C http://identifiers.org/clinvar/95335 ^@ NM_006017.2(PROM1):c.2374-6delTinsCC http://identifiers.org/clinvar/95336 ^@ NM_006031.5(PCNT):c.5522A>G (p.Asn1841Ser) http://identifiers.org/clinvar/95337 ^@ NM_006031.5(PCNT):c.5631C>T (p.Ile1877=) http://identifiers.org/clinvar/95338 ^@ NM_006031.5(PCNT):c.5634C>T (p.Asp1878=) http://identifiers.org/clinvar/95339 ^@ NM_006031.5(PCNT):c.5771C>T (p.Ala1924Val) http://identifiers.org/clinvar/95340 ^@ NM_006031.5(PCNT):c.5858G>A (p.Arg1953His) http://identifiers.org/clinvar/95341 ^@ NM_006031.5(PCNT):c.720+17T>C http://identifiers.org/clinvar/95342 ^@ NM_006031.5(PCNT):c.8752-5A>C http://identifiers.org/clinvar/95343 ^@ NM_006031.5(PCNT):c.8811A>G (p.Thr2937=) http://identifiers.org/clinvar/95344 ^@ NM_006031.5(PCNT):c.8988C>T (p.Ala2996=) http://identifiers.org/clinvar/95345 ^@ NM_006204.3(PDE6C):c.2082G>A (p.Met694Ile) http://identifiers.org/clinvar/95346 ^@ NM_006204.3(PDE6C):c.252G>A (p.Leu84=) http://identifiers.org/clinvar/95347 ^@ NM_006204.3(PDE6C):c.282C>T (p.Asp94=) http://identifiers.org/clinvar/95348 ^@ NM_006204.3(PDE6C):c.887T>C (p.Ile296Thr) http://identifiers.org/clinvar/95349 ^@ NM_006214.3(PHYH):c.636A>G (p.Thr212=) http://identifiers.org/clinvar/95350 ^@ NM_006269.1(RP1):c.1568A>G (p.Asn523Ser) http://identifiers.org/clinvar/95351 ^@ NM_006269.1(RP1):c.3305A>G (p.Gln1102Arg) http://identifiers.org/clinvar/95352 ^@ NM_006269.1(RP1):c.5008G>A (p.Ala1670Thr) http://identifiers.org/clinvar/95353 ^@ NM_006269.1(RP1):c.5019T>G (p.Tyr1673Ter) http://identifiers.org/clinvar/95354 ^@ NM_006269.1(RP1):c.5071T>C (p.Ser1691Pro) http://identifiers.org/clinvar/95355 ^@ NM_006269.1(RP1):c.5175A>G (p.Gln1725=) http://identifiers.org/clinvar/95356 ^@ NM_006269.1(RP1):c.6024A>G (p.Lys2008=) http://identifiers.org/clinvar/95357 ^@ NM_006269.1(RP1):c.6098G>A (p.Cys2033Tyr) http://identifiers.org/clinvar/95358 ^@ NM_006302.2(MOGS):c.1838G>A (p.Arg613Gln) http://identifiers.org/clinvar/95359 ^@ NM_006302.2(MOGS):c.184G>A (p.Val62Met) http://identifiers.org/clinvar/95360 ^@ NM_006302.2(MOGS):c.499A>C (p.Arg167=) http://identifiers.org/clinvar/95361 ^@ NM_006302.2(MOGS):c.57C>G (p.Ala19=) http://identifiers.org/clinvar/95362 ^@ NM_006302.2(MOGS):c.715G>A (p.Asp239Asn) http://identifiers.org/clinvar/95363 ^@ NM_006302.2(MOGS):c.877C>T (p.Pro293Ser) http://identifiers.org/clinvar/95364 ^@ NM_006306.3(SMC1A):c.-19C>T http://identifiers.org/clinvar/95365 ^@ NM_006306.3(SMC1A):c.2197-5T>C http://identifiers.org/clinvar/95366 ^@ NM_006306.3(SMC1A):c.3591C>T (p.Ala1197=) http://identifiers.org/clinvar/95367 ^@ NM_006306.3(SMC1A):c.412-10C>T http://identifiers.org/clinvar/95368 ^@ NM_006343.2(MERTK):c.1894G>A (p.Glu632Lys) http://identifiers.org/clinvar/95369 ^@ NM_006343.2(MERTK):c.2851G>A (p.Ala951Thr) http://identifiers.org/clinvar/95370 ^@ NM_006343.2(MERTK):c.2968G>T (p.Asp990Tyr) http://identifiers.org/clinvar/95371 ^@ NM_006343.2(MERTK):c.353G>A (p.Ser118Asn) http://identifiers.org/clinvar/95372 ^@ NM_006343.2(MERTK):c.60A>T (p.Arg20Ser) http://identifiers.org/clinvar/95373 ^@ NM_006348.3(COG5):c.2197G>A (p.Val733Met) http://identifiers.org/clinvar/95374 ^@ NM_006348.3(COG5):c.988T>C (p.Phe330Leu) http://identifiers.org/clinvar/95375 ^@ NM_001042537.1(SLC9A6):c.1462+8G>A http://identifiers.org/clinvar/95376 ^@ NM_001042537.1(SLC9A6):c.1616+4A>G http://identifiers.org/clinvar/95377 ^@ NM_001042537.1(SLC9A6):c.1923T>C (p.Thr641=) http://identifiers.org/clinvar/95378 ^@ NM_001042537.1(SLC9A6):c.1072C>T (p.Gln358Ter) http://identifiers.org/clinvar/95379 ^@ NM_006363.4(SEC23B):c.1233+9A>G http://identifiers.org/clinvar/95380 ^@ NM_006363.4(SEC23B):c.1298C>T (p.Pro433Leu) http://identifiers.org/clinvar/95381 ^@ NM_006363.4(SEC23B):c.1405-7C>T http://identifiers.org/clinvar/95382 ^@ NM_006363.4(SEC23B):c.1467C>G (p.His489Gln) http://identifiers.org/clinvar/95383 ^@ NM_006363.4(SEC23B):c.1503C>T (p.Ile501=) http://identifiers.org/clinvar/95384 ^@ NM_032985.4(SEC23B):c.1571C>T (p.Ala524Val) http://identifiers.org/clinvar/95385 ^@ NM_006363.4(SEC23B):c.1744-20T>A http://identifiers.org/clinvar/95386 ^@ NM_006363.4(SEC23B):c.2061G>T (p.Leu687=) http://identifiers.org/clinvar/95387 ^@ NM_006363.4(SEC23B):c.2298C>T (p.Ala766=) http://identifiers.org/clinvar/95388 ^@ NM_006363.4(SEC23B):c.490G>T (p.Val164Leu) http://identifiers.org/clinvar/95389 ^@ NM_032985.4(SEC23B):c.689+1G>A http://identifiers.org/clinvar/95390 ^@ NM_032985.4(SEC23B):c.742G>A (p.Glu248Lys) http://identifiers.org/clinvar/95391 ^@ NM_006416.4(SLC35A1):c.-18G>C http://identifiers.org/clinvar/95392 ^@ NM_006416.4(SLC35A1):c.19A>C (p.Asn7His) http://identifiers.org/clinvar/95393 ^@ NM_006416.4(SLC35A1):c.7G>T (p.Ala3Ser) http://identifiers.org/clinvar/95394 ^@ NM_006416.4(SLC35A1):c.887-14T>C http://identifiers.org/clinvar/95395 ^@ NM_006420.2(ARFGEF2):c.1233C>T (p.Leu411=) http://identifiers.org/clinvar/95396 ^@ NM_006493.2(CLN5):c.234C>G (p.Ala78=) http://identifiers.org/clinvar/95397 ^@ NM_006493.2(CLN5):c.320+18C>T http://identifiers.org/clinvar/95398 ^@ NM_006493.2(CLN5):c.72A>G (p.Gly24=) http://identifiers.org/clinvar/95399 ^@ NM_006493.2(CLN5):c.908C>T (p.Thr303Ile) http://identifiers.org/clinvar/95400 ^@ NM_006514.3(SCN10A):c.1453C>T (p.Arg485Cys) http://identifiers.org/clinvar/95401 ^@ NM_006514.3(SCN10A):c.2884A>G (p.Ile962Val) http://identifiers.org/clinvar/95403 ^@ NM_006514.3(SCN10A):c.4710G>A (p.Thr1570=) http://identifiers.org/clinvar/95404 ^@ NM_006514.3(SCN10A):c.4866T>C (p.Ser1622=) http://identifiers.org/clinvar/95406 ^@ NM_006516.2(SLC2A1):c.1011C>T (p.His337=) http://identifiers.org/clinvar/95407 ^@ NM_006516.2(SLC2A1):c.1065A>G (p.Leu355=) http://identifiers.org/clinvar/95408 ^@ NM_006516.2(SLC2A1):c.1296C>T (p.Tyr432=) http://identifiers.org/clinvar/95409 ^@ NM_006516.2(SLC2A1):c.19-4G>A http://identifiers.org/clinvar/95410 ^@ NM_006516.2(SLC2A1):c.321C>T (p.Ala107=) http://identifiers.org/clinvar/95411 ^@ NM_006516.2(SLC2A1):c.399C>T (p.Cys133=) http://identifiers.org/clinvar/95412 ^@ NM_006516.2(SLC2A1):c.417C>T (p.Phe139=) http://identifiers.org/clinvar/95413 ^@ NM_006516.2(SLC2A1):c.45C>T (p.Ala15=) http://identifiers.org/clinvar/95414 ^@ NM_006516.2(SLC2A1):c.588G>A (p.Pro196=) http://identifiers.org/clinvar/95415 ^@ NM_006516.2(SLC2A1):c.652C>T (p.Arg218Cys) http://identifiers.org/clinvar/95416 ^@ NM_006516.2(SLC2A1):c.679+7G>C http://identifiers.org/clinvar/95417 ^@ NM_006516.2(SLC2A1):c.777C>T (p.Ile259=) http://identifiers.org/clinvar/95418 ^@ NM_006516.2(SLC2A1):c.966C>T (p.Val322=) http://identifiers.org/clinvar/95419 ^@ NM_006516.2(SLC2A1):c.980_981delTG (p.Val327Glyfs) http://identifiers.org/clinvar/95420 ^@ NM_006517.4(SLC16A2):c.839A>G (p.Tyr280Cys) http://identifiers.org/clinvar/95421 ^@ NM_006517.4(SLC16A2):c.412C>G (p.Gln138Glu) http://identifiers.org/clinvar/95422 ^@ NM_006517.4(SLC16A2):c.647C>T (p.Ser216Phe) http://identifiers.org/clinvar/95423 ^@ NM_006657.2(FTCD):c.1313C>T (p.Ala438Val) http://identifiers.org/clinvar/95424 ^@ NM_006657.2(FTCD):c.1392C>G (p.Ala464=) http://identifiers.org/clinvar/95425 ^@ NM_006657.2(FTCD):c.1480G>A (p.Ala494Thr) http://identifiers.org/clinvar/95426 ^@ NM_006657.2(FTCD):c.417G>A (p.Pro139=) http://identifiers.org/clinvar/95427 ^@ NM_006657.2(FTCD):c.54+12G>A http://identifiers.org/clinvar/95429 ^@ NM_006765.3(TUSC3):c.139-17delT http://identifiers.org/clinvar/95430 ^@ NM_006765.3(TUSC3):c.309-6T>C http://identifiers.org/clinvar/95431 ^@ NM_006765.3(TUSC3):c.912G>A (p.Ser304=) http://identifiers.org/clinvar/95432 ^@ NM_006765.3(TUSC3):c.992C>A (p.Ser331Ter) http://identifiers.org/clinvar/95433 ^@ NM_006783.4(GJB6):c.15G>T (p.Thr5=) http://identifiers.org/clinvar/95434 ^@ NM_006783.4(GJB6):c.261dupA (p.Ala88Serfs) http://identifiers.org/clinvar/95435 ^@ NM_006783.4(GJB6):c.689dupA (p.Asn230Lysfs) http://identifiers.org/clinvar/95436 ^@ NM_006790.2(MYOT):c.107_110delAACA (p.Lys36Serfs) http://identifiers.org/clinvar/95437 ^@ NM_006790.2(MYOT):c.1190+7T>C http://identifiers.org/clinvar/95438 ^@ NM_006790.2(MYOT):c.120T>A (p.Ile40=) http://identifiers.org/clinvar/95439 ^@ NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) http://identifiers.org/clinvar/95440 ^@ NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) http://identifiers.org/clinvar/95441 ^@ NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) http://identifiers.org/clinvar/95442 ^@ NM_006899.4(IDH3B):c.117+6C>A http://identifiers.org/clinvar/95443 ^@ NM_006915.2(RP2):c.631delC (p.Arg211Valfs) http://identifiers.org/clinvar/95444 ^@ NM_006922.3(SCN3A):c.127_129delAAT (p.Asn43del) http://identifiers.org/clinvar/95445 ^@ NM_006922.3(SCN3A):c.1441C>T (p.Leu481=) http://identifiers.org/clinvar/95446 ^@ NM_007129.3(ZIC2):c.1059C>T (p.His353=) http://identifiers.org/clinvar/95447 ^@ NM_007129.3(ZIC2):c.1480_1527del48 (p.Gly494_Ser509del) http://identifiers.org/clinvar/95448 ^@ NM_007129.3(ZIC2):c.716_718dupACC (p.His239_Pro240insHis) http://identifiers.org/clinvar/95449 ^@ NM_007137.3(ZNF81):c.181+8C>T http://identifiers.org/clinvar/95450 ^@ NM_007171.3(POMT1):c.1043A>G (p.Tyr348Cys) http://identifiers.org/clinvar/95451 ^@ NM_007171.3(POMT1):c.1148+16G>A http://identifiers.org/clinvar/95452 ^@ NM_007171.3(POMT1):c.1153C>T (p.Gln385Ter) http://identifiers.org/clinvar/95453 ^@ NM_007171.3(POMT1):c.123-5dupT http://identifiers.org/clinvar/95454 ^@ NM_007171.3(POMT1):c.1280_1281delAGinsTC (p.Glu427Val) http://identifiers.org/clinvar/95455 ^@ NM_007171.3(POMT1):c.1299C>A (p.Asp433Glu) http://identifiers.org/clinvar/95456 ^@ NM_007171.3(POMT1):c.132A>C (p.Glu44Asp) http://identifiers.org/clinvar/95457 ^@ NM_007171.3(POMT1):c.1431+15C>T http://identifiers.org/clinvar/95458 ^@ NM_007171.3(POMT1):c.1482C>T (p.Val494=) http://identifiers.org/clinvar/95459 ^@ NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) http://identifiers.org/clinvar/95460 ^@ NM_007171.3(POMT1):c.2069+13C>T http://identifiers.org/clinvar/95462 ^@ NM_007171.3(POMT1):c.2181G>A (p.Ser727=) http://identifiers.org/clinvar/95463 ^@ NM_007171.3(POMT1):c.2203C>T (p.Arg735Cys) http://identifiers.org/clinvar/95464 ^@ NM_007171.3(POMT1):c.310C>T (p.Leu104=) http://identifiers.org/clinvar/95465 ^@ NM_007171.3(POMT1):c.452G>C (p.Arg151Thr) http://identifiers.org/clinvar/95466 ^@ NM_007171.3(POMT1):c.751C>T (p.Arg251Trp) http://identifiers.org/clinvar/95467 ^@ NM_007171.3(POMT1):c.752G>A (p.Arg251Gln) http://identifiers.org/clinvar/95468 ^@ NM_007171.3(POMT1):c.793C>T (p.Arg265Ter) http://identifiers.org/clinvar/95469 ^@ NM_007171.3(POMT1):c.818C>T (p.Pro273Leu) http://identifiers.org/clinvar/95470 ^@ NM_007171.3(POMT1):c.957G>A (p.Leu319=) http://identifiers.org/clinvar/95471 ^@ NM_007171.3(POMT1):c.979G>A (p.Val327Ile) http://identifiers.org/clinvar/95472 ^@ NM_007214.4(SEC63):c.340-12_340-7delGTTTTTinsCCC http://identifiers.org/clinvar/189837 ^@ NM_007214.4(SEC63):c.340-12_340-7delGTTTTTinsCCCC http://identifiers.org/clinvar/95474 ^@ NM_007214.4(SEC63):c.564C>T (p.Asn188=) http://identifiers.org/clinvar/95475 ^@ NM_007254.3(PNKP):c.1030-5C>T http://identifiers.org/clinvar/95476 ^@ NM_007254.3(PNKP):c.1127-8C>T http://identifiers.org/clinvar/95477 ^@ NM_007254.3(PNKP):c.1189-10delG http://identifiers.org/clinvar/95478 ^@ NM_007254.3(PNKP):c.1360C>A (p.Leu454Met) http://identifiers.org/clinvar/95479 ^@ NM_007254.3(PNKP):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/95480 ^@ NM_007254.3(PNKP):c.1491C>T (p.Ala497=) http://identifiers.org/clinvar/95481 ^@ NM_007254.3(PNKP):c.1497G>A (p.Leu499=) http://identifiers.org/clinvar/95482 ^@ NM_007254.3(PNKP):c.308C>T (p.Thr103Ile) http://identifiers.org/clinvar/95483 ^@ NM_007254.3(PNKP):c.538C>A (p.Arg180Ser) http://identifiers.org/clinvar/95484 ^@ NM_007254.3(PNKP):c.579G>A (p.Arg193=) http://identifiers.org/clinvar/95485 ^@ NM_007254.3(PNKP):c.587A>G (p.Tyr196Cys) http://identifiers.org/clinvar/95486 ^@ NM_007254.3(PNKP):c.58C>T (p.Pro20Ser) http://identifiers.org/clinvar/95487 ^@ NM_007254.3(PNKP):c.763G>A (p.Ala255Thr) http://identifiers.org/clinvar/95488 ^@ NM_007254.3(PNKP):c.817-5C>G http://identifiers.org/clinvar/95489 ^@ NM_007254.3(PNKP):c.831G>A (p.Thr277=) http://identifiers.org/clinvar/95490 ^@ NM_007254.3(PNKP):c.845G>A (p.Gly282Glu) http://identifiers.org/clinvar/95491 ^@ NM_007254.3(PNKP):c.901C>T (p.Arg301Trp) http://identifiers.org/clinvar/95492 ^@ NM_012144.3(DNAI1):c.81+5delG http://identifiers.org/clinvar/95493 ^@ NM_012210.3(TRIM32):c.*1G>A http://identifiers.org/clinvar/95494 ^@ NM_012210.3(TRIM32):c.1226G>A (p.Arg409His) http://identifiers.org/clinvar/95495 ^@ NM_012210.3(TRIM32):c.1254G>A (p.Val418=) http://identifiers.org/clinvar/95496 ^@ NM_012210.3(TRIM32):c.1458C>T (p.Thr486=) http://identifiers.org/clinvar/95497 ^@ NM_012210.3(TRIM32):c.276C>T (p.Ser92=) http://identifiers.org/clinvar/95498 ^@ NM_012210.3(TRIM32):c.501G>A (p.Lys167=) http://identifiers.org/clinvar/95499 ^@ NM_012210.3(TRIM32):c.678C>T (p.Tyr226=) http://identifiers.org/clinvar/95500 ^@ NM_012213.2(MLYCD):c.444C>T (p.Asp148=) http://identifiers.org/clinvar/95501 ^@ NM_012213.2(MLYCD):c.528+19T>C http://identifiers.org/clinvar/95502 ^@ NM_012213.2(MLYCD):c.642-12A>T http://identifiers.org/clinvar/95503 ^@ NM_012213.2(MLYCD):c.642-5C>T http://identifiers.org/clinvar/95504 ^@ NM_012213.2(MLYCD):c.679_680insTGAAGC (p.Lys228_Arg229insLeuLys) http://identifiers.org/clinvar/95505 ^@ NM_012213.2(MLYCD):c.776G>C (p.Gly259Ala) http://identifiers.org/clinvar/95506 ^@ NM_012224.2(NEK1):c.1081-8dupT http://identifiers.org/clinvar/95507 ^@ NM_012224.2(NEK1):c.1746A>G (p.Glu582=) http://identifiers.org/clinvar/95508 ^@ NM_012224.2(NEK1):c.2681-20G>A http://identifiers.org/clinvar/95509 ^@ NM_012301.3(MAGI2):c.1755C>T (p.Pro585=) http://identifiers.org/clinvar/95510 ^@ NM_012301.3(MAGI2):c.2384G>A (p.Gly795Glu) http://identifiers.org/clinvar/95511 ^@ NM_012301.3(MAGI2):c.276C>G (p.Pro92=) http://identifiers.org/clinvar/95512 ^@ NM_012301.3(MAGI2):c.3915G>A (p.Gln1305=) http://identifiers.org/clinvar/95513 ^@ NM_012301.3(MAGI2):c.4269G>C (p.Pro1423=) http://identifiers.org/clinvar/95514 ^@ NM_012301.3(MAGI2):c.4329C>G (p.Pro1443=) http://identifiers.org/clinvar/95515 ^@ NM_012463.3(ATP6V0A2):c.-14C>T http://identifiers.org/clinvar/95516 ^@ NM_012463.3(ATP6V0A2):c.1016G>A (p.Arg339His) http://identifiers.org/clinvar/95517 ^@ NM_012463.3(ATP6V0A2):c.1121A>G (p.Lys374Arg) http://identifiers.org/clinvar/95518 ^@ NM_012463.3(ATP6V0A2):c.1258G>T (p.Val420Leu) http://identifiers.org/clinvar/95519 ^@ NM_012463.3(ATP6V0A2):c.1514+1G>A http://identifiers.org/clinvar/95520 ^@ NM_012463.3(ATP6V0A2):c.1515T>C (p.Asn505=) http://identifiers.org/clinvar/95521 ^@ NM_012463.3(ATP6V0A2):c.2438C>T (p.Ala813Val) http://identifiers.org/clinvar/95522 ^@ NM_012463.3(ATP6V0A2):c.2549A>G (p.Asn850Ser) http://identifiers.org/clinvar/95523 ^@ NM_012463.3(ATP6V0A2):c.426T>C (p.Asn142=) http://identifiers.org/clinvar/95524 ^@ NM_012463.3(ATP6V0A2):c.432+14C>T http://identifiers.org/clinvar/95525 ^@ NM_012463.3(ATP6V0A2):c.471T>C (p.Ser157=) http://identifiers.org/clinvar/95526 ^@ NM_012463.3(ATP6V0A2):c.825+2T>C http://identifiers.org/clinvar/95527 ^@ NM_013339.3(ALG6):c.127C>A (p.His43Asn) http://identifiers.org/clinvar/95528 ^@ NM_013339.3(ALG6):c.1323T>C (p.Tyr441=) http://identifiers.org/clinvar/95529 ^@ NM_013339.3(ALG6):c.257+5G>A http://identifiers.org/clinvar/95530 ^@ NM_013339.3(ALG6):c.820A>G (p.Lys274Glu) http://identifiers.org/clinvar/95531 ^@ NM_013339.3(ALG6):c.911C>T (p.Ser304Phe) http://identifiers.org/clinvar/95532 ^@ NM_013382.5(POMT2):c.1106G>A (p.Arg369His) http://identifiers.org/clinvar/95533 ^@ NM_013382.5(POMT2):c.1117-20C>T http://identifiers.org/clinvar/95534 ^@ NM_013382.5(POMT2):c.1363C>T (p.Arg455Trp) http://identifiers.org/clinvar/95535 ^@ NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) http://identifiers.org/clinvar/95536 ^@ NM_013382.5(POMT2):c.162G>T (p.Ala54=) http://identifiers.org/clinvar/95537 ^@ NM_013382.5(POMT2):c.1654-6A>G http://identifiers.org/clinvar/95538 ^@ NM_013382.5(POMT2):c.1895T>C (p.Leu632Ser) http://identifiers.org/clinvar/95539 ^@ NM_013382.5(POMT2):c.2085G>T (p.Trp695Cys) http://identifiers.org/clinvar/95540 ^@ NM_013382.5(POMT2):c.2086C>T (p.Pro696Ser) http://identifiers.org/clinvar/95541 ^@ NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) http://identifiers.org/clinvar/95542 ^@ NM_013382.5(POMT2):c.293A>G (p.Asn98Ser) http://identifiers.org/clinvar/95543 ^@ NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) http://identifiers.org/clinvar/95544 ^@ NM_013382.5(POMT2):c.559C>T (p.Leu187Phe) http://identifiers.org/clinvar/95545 ^@ NM_013382.5(POMT2):c.924-10C>T http://identifiers.org/clinvar/95547 ^@ NM_014008.4(CCDC22):c.1213-9C>T http://identifiers.org/clinvar/95548 ^@ NM_014008.4(CCDC22):c.1288G>A (p.Ala430Thr) http://identifiers.org/clinvar/95549 ^@ NM_014008.4(CCDC22):c.1774G>A (p.Glu592Lys) http://identifiers.org/clinvar/95550 ^@ NM_014008.4(CCDC22):c.747A= (p.Gln249=) http://identifiers.org/clinvar/95551 ^@ NM_014014.4(SNRNP200):c.2928G>A (p.Thr976=) http://identifiers.org/clinvar/95552 ^@ NM_014014.4(SNRNP200):c.4165G>A (p.Val1389Ile) http://identifiers.org/clinvar/95554 ^@ NM_014141.5(CNTNAP2):c.1083G>A (p.Val361=) http://identifiers.org/clinvar/95555 ^@ NM_014141.5(CNTNAP2):c.1220A>G (p.Asn407Ser) http://identifiers.org/clinvar/95556 ^@ NM_014141.5(CNTNAP2):c.1659G>A (p.Ala553=) http://identifiers.org/clinvar/95557 ^@ NM_014141.5(CNTNAP2):c.1710G>A (p.Ser570=) http://identifiers.org/clinvar/95558 ^@ NM_014141.5(CNTNAP2):c.1769G>A (p.Cys590Tyr) http://identifiers.org/clinvar/95559 ^@ NM_014141.5(CNTNAP2):c.1777+10A>G http://identifiers.org/clinvar/95560 ^@ NM_014141.5(CNTNAP2):c.2153G>A (p.Trp718Ter) http://identifiers.org/clinvar/95561 ^@ NM_014141.5(CNTNAP2):c.2256-6A>T http://identifiers.org/clinvar/95562 ^@ NM_014141.5(CNTNAP2):c.2280A>G (p.Ser760=) http://identifiers.org/clinvar/95563 ^@ NM_014141.5(CNTNAP2):c.237C>T (p.Ser79=) http://identifiers.org/clinvar/95564 ^@ NM_014141.5(CNTNAP2):c.2698C>A (p.Arg900=) http://identifiers.org/clinvar/95565 ^@ NM_014141.5(CNTNAP2):c.2892G>A (p.Ser964=) http://identifiers.org/clinvar/95566 ^@ NM_014141.5(CNTNAP2):c.3248-4A>G http://identifiers.org/clinvar/95567 ^@ NM_014141.5(CNTNAP2):c.3381+17A>C http://identifiers.org/clinvar/95568 ^@ NM_014141.5(CNTNAP2):c.3382-7C>T http://identifiers.org/clinvar/95569 ^@ NM_014141.5(CNTNAP2):c.354C>T (p.Ser118=) http://identifiers.org/clinvar/95570 ^@ NM_014141.5(CNTNAP2):c.3633G>A (p.Glu1211=) http://identifiers.org/clinvar/95571 ^@ NM_014141.5(CNTNAP2):c.3716-10_3716-7dupTTCT http://identifiers.org/clinvar/95572 ^@ NM_014141.5(CNTNAP2):c.3716-6C>G http://identifiers.org/clinvar/95573 ^@ NM_014141.5(CNTNAP2):c.3723G>A (p.Ala1241=) http://identifiers.org/clinvar/95574 ^@ NM_014141.5(CNTNAP2):c.479G>A (p.Arg160His) http://identifiers.org/clinvar/95575 ^@ NM_014141.5(CNTNAP2):c.551-11T>G http://identifiers.org/clinvar/95576 ^@ NM_014141.5(CNTNAP2):c.551-11_551-10insG http://identifiers.org/clinvar/95577 ^@ NM_014141.5(CNTNAP2):c.681C>T (p.His227=) http://identifiers.org/clinvar/95578 ^@ NM_014141.5(CNTNAP2):c.854G>C (p.Gly285Ala) http://identifiers.org/clinvar/95579 ^@ NM_014249.3(NR2E3):c.1095C>T (p.Pro365=) http://identifiers.org/clinvar/95580 ^@ NM_014249.3(NR2E3):c.245+8C>T http://identifiers.org/clinvar/95581 ^@ NM_014336.4(AIPL1):c.244C>T (p.His82Tyr) http://identifiers.org/clinvar/95582 ^@ NM_014336.4(AIPL1):c.267C>T (p.Cys89=) http://identifiers.org/clinvar/95583 ^@ NM_014336.4(AIPL1):c.516T>C (p.His172=) http://identifiers.org/clinvar/95584 ^@ NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) http://identifiers.org/clinvar/95585 ^@ NM_014384.2(ACAD8):c.384G>A (p.Met128Ile) http://identifiers.org/clinvar/95586 ^@ NM_014384.2(ACAD8):c.400G>T (p.Asp134Tyr) http://identifiers.org/clinvar/95587 ^@ NM_014384.2(ACAD8):c.447_448dupCT (p.Cys150Serfs) http://identifiers.org/clinvar/95588 ^@ NM_014384.2(ACAD8):c.481A>G (p.Thr161Ala) http://identifiers.org/clinvar/95589 ^@ NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) http://identifiers.org/clinvar/95590 ^@ NM_014384.2(ACAD8):c.616C>G (p.Arg206Gly) http://identifiers.org/clinvar/95591 ^@ NM_014384.2(ACAD8):c.784G>A (p.Glu262Lys) http://identifiers.org/clinvar/95592 ^@ NM_014384.2(ACAD8):c.977T>A (p.Leu326Gln) http://identifiers.org/clinvar/95593 ^@ NM_014425.4(INVS):c.-17C>T http://identifiers.org/clinvar/95594 ^@ NM_014425.4(INVS):c.1235-5T>C http://identifiers.org/clinvar/95595 ^@ NM_014425.4(INVS):c.1459A>C (p.Lys487Gln) http://identifiers.org/clinvar/95596 ^@ NM_014425.4(INVS):c.1948G>C (p.Ala650Pro) http://identifiers.org/clinvar/95597 ^@ NM_014425.4(INVS):c.2412T>C (p.Ser804=) http://identifiers.org/clinvar/95598 ^@ NM_014425.4(INVS):c.2775C>T (p.Arg925=) http://identifiers.org/clinvar/95599 ^@ NM_014425.4(INVS):c.725C>T (p.Ser242Leu) http://identifiers.org/clinvar/95600 ^@ NM_014425.4(INVS):c.740A>G (p.Asn247Ser) http://identifiers.org/clinvar/95601 ^@ NM_014467.2(SRPX2):c.605G>A (p.Arg202Gln) http://identifiers.org/clinvar/95602 ^@ NM_014467.2(SRPX2):c.840G>A (p.Ala280=) http://identifiers.org/clinvar/95603 ^@ NM_148898.3(FOXP2):c.1299C>G (p.His433Gln) http://identifiers.org/clinvar/95604 ^@ NM_014491.3(FOXP2):c.1468+9T>C http://identifiers.org/clinvar/95605 ^@ NM_148898.3(FOXP2):c.1918G>A (p.Ala640Thr) http://identifiers.org/clinvar/95606 ^@ NM_014491.3(FOXP2):c.259-13_259-8dupCTTTCT http://identifiers.org/clinvar/95607 ^@ NM_148898.3(FOXP2):c.558A>G (p.Gln186=) http://identifiers.org/clinvar/95608 ^@ NM_014491.3(FOXP2):c.522_524delACA (p.Gln191del) http://identifiers.org/clinvar/95609 ^@ NM_014491.3(FOXP2):c.531A>G (p.Gln177=) http://identifiers.org/clinvar/95610 ^@ NM_014491.3(FOXP2):c.552A>G (p.Gln184=) http://identifiers.org/clinvar/95611 ^@ NM_014491.3(FOXP2):c.570A>G (p.Gln190=) http://identifiers.org/clinvar/95612 ^@ NM_148898.3(FOXP2):c.672+17T>G http://identifiers.org/clinvar/95613 ^@ NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) http://identifiers.org/clinvar/95614 ^@ NM_014728.3(FRMPD4):c.1197+12C>G http://identifiers.org/clinvar/95615 ^@ NM_014728.3(FRMPD4):c.3765C>T (p.Gly1255=) http://identifiers.org/clinvar/95616 ^@ NM_014728.3(FRMPD4):c.42-10T>C http://identifiers.org/clinvar/95617 ^@ NM_014728.3(FRMPD4):c.42-10delT http://identifiers.org/clinvar/95618 ^@ NM_014795.3(ZEB2):c.1161A>G (p.Leu387=) http://identifiers.org/clinvar/95619 ^@ NM_014795.3(ZEB2):c.1306A>G (p.Met436Val) http://identifiers.org/clinvar/95620 ^@ NM_014795.3(ZEB2):c.1381C>T (p.Gln461Ter) http://identifiers.org/clinvar/95621 ^@ NM_014795.3(ZEB2):c.1410T>A (p.Thr470=) http://identifiers.org/clinvar/95622 ^@ NM_014795.3(ZEB2):c.1480C>T (p.Pro494Ser) http://identifiers.org/clinvar/95623 ^@ NM_014795.3(ZEB2):c.1541dupC (p.Val515Glyfs) http://identifiers.org/clinvar/95624 ^@ NM_014795.3(ZEB2):c.1586delC (p.Thr529Serfs) http://identifiers.org/clinvar/95625 ^@ NM_014795.3(ZEB2):c.1848T>G (p.Pro616=) http://identifiers.org/clinvar/95626 ^@ NM_014795.3(ZEB2):c.2032delT (p.Ser678Profs) http://identifiers.org/clinvar/95627 ^@ NM_014795.3(ZEB2):c.2141C>T (p.Pro714Leu) http://identifiers.org/clinvar/95628 ^@ NM_014795.3(ZEB2):c.2174_2177dupACTC (p.Leu728Phefs) http://identifiers.org/clinvar/95629 ^@ NM_014795.3(ZEB2):c.2203C>T (p.Pro735Ser) http://identifiers.org/clinvar/95630 ^@ NM_014795.3(ZEB2):c.2230A>G (p.Ile744Val) http://identifiers.org/clinvar/95631 ^@ NM_014795.3(ZEB2):c.2255C>T (p.Thr752Met) http://identifiers.org/clinvar/95632 ^@ NM_014795.3(ZEB2):c.2887-4G>A http://identifiers.org/clinvar/95633 ^@ NM_014795.3(ZEB2):c.3067+6A>T http://identifiers.org/clinvar/95634 ^@ NM_014795.3(ZEB2):c.3077_3079delCAC (p.Pro1026del) http://identifiers.org/clinvar/95635 ^@ NM_014795.3(ZEB2):c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs) http://identifiers.org/clinvar/95636 ^@ NM_014795.3(ZEB2):c.3471C>T (p.Asp1157=) http://identifiers.org/clinvar/95637 ^@ NM_014795.3(ZEB2):c.489C>T (p.Ile163=) http://identifiers.org/clinvar/95638 ^@ NM_014795.3(ZEB2):c.643_659del17 (p.Tyr215Glnfs) http://identifiers.org/clinvar/95639 ^@ NM_014795.3(ZEB2):c.73+2T>C http://identifiers.org/clinvar/95640 ^@ NM_014795.3(ZEB2):c.782_783delTG (p.Val261Aspfs) http://identifiers.org/clinvar/95641 ^@ NM_014795.3(ZEB2):c.805C>T (p.Gln269Ter) http://identifiers.org/clinvar/95642 ^@ NM_014795.3(ZEB2):c.807+3G>C http://identifiers.org/clinvar/95643 ^@ NM_014795.3(ZEB2):c.930C>T (p.Tyr310=) http://identifiers.org/clinvar/95644 ^@ NM_014908.3(DOLK):c.186G>A (p.Arg62=) http://identifiers.org/clinvar/95645 ^@ NM_014908.3(DOLK):c.552G>A (p.Leu184=) http://identifiers.org/clinvar/95646 ^@ NM_014908.3(DOLK):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/95647 ^@ NM_014908.3(DOLK):c.700A>G (p.Met234Val) http://identifiers.org/clinvar/95649 ^@ NM_014927.4(CNKSR2):c.2199G>A (p.Thr733=) http://identifiers.org/clinvar/95650 ^@ NM_014927.4(CNKSR2):c.651A>G (p.Gln217=) http://identifiers.org/clinvar/95651 ^@ NM_014985.3(CEP152):c.2878T>C (p.Trp960Arg) http://identifiers.org/clinvar/95652 ^@ NM_001194998.1(CEP152):c.3325G>C (p.Ala1109Pro) http://identifiers.org/clinvar/95653 ^@ NM_014985.3(CEP152):c.3466+8G>C http://identifiers.org/clinvar/95654 ^@ NM_014985.3(CEP152):c.3926-9A>T http://identifiers.org/clinvar/95655 ^@ NM_014989.5(RIMS1):c.1083A>G (p.Leu361=) http://identifiers.org/clinvar/95656 ^@ NM_014989.5(RIMS1):c.1209G>A (p.Ala403=) http://identifiers.org/clinvar/95657 ^@ NM_014989.5(RIMS1):c.4983G>A (p.Pro1661=) http://identifiers.org/clinvar/95658 ^@ NM_015046.5(SETX):c.1077T>C (p.Tyr359=) http://identifiers.org/clinvar/95659 ^@ NM_015046.5(SETX):c.1979C>G (p.Ala660Gly) http://identifiers.org/clinvar/95660 ^@ NM_015046.5(SETX):c.3455T>G (p.Phe1152Cys) http://identifiers.org/clinvar/95661 ^@ NM_015046.5(SETX):c.3576T>G (p.Asp1192Glu) http://identifiers.org/clinvar/95662 ^@ NM_015046.5(SETX):c.3754G>A (p.Gly1252Arg) http://identifiers.org/clinvar/95663 ^@ NM_015046.5(SETX):c.4156A>G (p.Ile1386Val) http://identifiers.org/clinvar/95664 ^@ NM_015046.5(SETX):c.5374+16C>T http://identifiers.org/clinvar/95665 ^@ NM_015046.5(SETX):c.5563A>G (p.Thr1855Ala) http://identifiers.org/clinvar/95666 ^@ NM_015046.5(SETX):c.5781+12dupT http://identifiers.org/clinvar/95667 ^@ NM_015046.5(SETX):c.5811T>C (p.Asp1937=) http://identifiers.org/clinvar/95668 ^@ NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) http://identifiers.org/clinvar/95669 ^@ NM_015046.5(SETX):c.7759A>G (p.Ile2587Val) http://identifiers.org/clinvar/95670 ^@ NM_015102.4(NPHP4):c.1005A>G (p.Gln335=) http://identifiers.org/clinvar/95671 ^@ NM_015102.4(NPHP4):c.1441+13A>G http://identifiers.org/clinvar/95672 ^@ NM_015102.4(NPHP4):c.1611+9C>T http://identifiers.org/clinvar/95673 ^@ NM_015102.4(NPHP4):c.1926G>A (p.Glu642=) http://identifiers.org/clinvar/95674 ^@ NM_015102.4(NPHP4):c.2293G>A (p.Val765Ile) http://identifiers.org/clinvar/95675 ^@ NM_015102.4(NPHP4):c.2542C>T (p.Arg848Trp) http://identifiers.org/clinvar/95676 ^@ NM_015102.4(NPHP4):c.2543G>A (p.Arg848Gln) http://identifiers.org/clinvar/95677 ^@ NM_015102.4(NPHP4):c.2643G>A (p.Ala881=) http://identifiers.org/clinvar/95678 ^@ NM_015102.4(NPHP4):c.2724G>A (p.Ser908=) http://identifiers.org/clinvar/95679 ^@ NM_015102.4(NPHP4):c.2802C>T (p.Arg934=) http://identifiers.org/clinvar/95680 ^@ NM_015102.4(NPHP4):c.2940_2944dupGCTCC (p.His982Argfs) http://identifiers.org/clinvar/95681 ^@ NM_015102.4(NPHP4):c.3243G>C (p.Gly1081=) http://identifiers.org/clinvar/95682 ^@ NM_015102.4(NPHP4):c.3329C>T (p.Ala1110Val) http://identifiers.org/clinvar/95683 ^@ NM_015102.4(NPHP4):c.3570A>G (p.Glu1190=) http://identifiers.org/clinvar/95684 ^@ NM_015102.4(NPHP4):c.3754C>T (p.Leu1252Phe) http://identifiers.org/clinvar/95685 ^@ NM_015102.4(NPHP4):c.3876C>T (p.Gly1292=) http://identifiers.org/clinvar/95686 ^@ NM_015102.4(NPHP4):c.4179T>A (p.Phe1393Leu) http://identifiers.org/clinvar/95687 ^@ NM_015102.4(NPHP4):c.453-27G>A http://identifiers.org/clinvar/95688 ^@ NM_015192.3(PLCB1):c.3550C>T (p.Leu1184Phe) http://identifiers.org/clinvar/95689 ^@ NM_015272.4(RPGRIP1L):c.2153-4G>C http://identifiers.org/clinvar/95690 ^@ NM_015272.4(RPGRIP1L):c.2231G>A (p.Arg744Gln) http://identifiers.org/clinvar/95691 ^@ NM_015272.4(RPGRIP1L):c.2925A>G (p.Val975=) http://identifiers.org/clinvar/95692 ^@ NM_015272.4(RPGRIP1L):c.3428C>G (p.Thr1143Ser) http://identifiers.org/clinvar/95693 ^@ NM_015272.4(RPGRIP1L):c.3548C>G (p.Ala1183Gly) http://identifiers.org/clinvar/95694 ^@ NM_015386.2(COG4):c.1210C>A (p.Leu404Met) http://identifiers.org/clinvar/95695 ^@ NM_015386.2(COG4):c.171+18T>C http://identifiers.org/clinvar/95696 ^@ NM_015386.2(COG4):c.1759C>A (p.Gln587Lys) http://identifiers.org/clinvar/95697 ^@ NM_015386.2(COG4):c.485C>T (p.Thr162Ile) http://identifiers.org/clinvar/95698 ^@ NM_015386.2(COG4):c.592C>T (p.Arg198Cys) http://identifiers.org/clinvar/95699 ^@ NM_015386.2(COG4):c.646C>T (p.Leu216=) http://identifiers.org/clinvar/95700 ^@ NM_015404.3(WHRN):c.2183G>A (p.Arg728His) http://identifiers.org/clinvar/95702 ^@ NM_015506.2(MMACHC):c.321G>A (p.Val107=) http://identifiers.org/clinvar/95703 ^@ NM_015506.2(MMACHC):c.481C>T (p.Arg161Ter) http://identifiers.org/clinvar/95704 ^@ NM_015506.2(MMACHC):c.547_548delGT (p.Val183Thrfs) http://identifiers.org/clinvar/95705 ^@ NM_015506.2(MMACHC):c.603T>C (p.Arg201=) http://identifiers.org/clinvar/95706 ^@ NM_015506.2(MMACHC):c.608G>A (p.Trp203Ter) http://identifiers.org/clinvar/95707 ^@ NM_015506.2(MMACHC):c.658_660delAAG (p.Lys220del) http://identifiers.org/clinvar/95708 ^@ NM_015560.2(OPA1):c.1071A>G (p.Ala357=) http://identifiers.org/clinvar/95709 ^@ NM_015560.2(OPA1):c.1177A>C (p.Arg393=) http://identifiers.org/clinvar/95710 ^@ NM_015560.2(OPA1):c.1352delT (p.Leu451Trpfs) http://identifiers.org/clinvar/95711 ^@ NM_015560.2(OPA1):c.1608A>C (p.Ala536=) http://identifiers.org/clinvar/95712 ^@ NM_015560.2(OPA1):c.1635C>A (p.Ser545Arg) http://identifiers.org/clinvar/95713 ^@ NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) http://identifiers.org/clinvar/95714 ^@ NM_015560.2(OPA1):c.1770+16T>G http://identifiers.org/clinvar/95715 ^@ NM_015560.2(OPA1):c.1770+3A>G http://identifiers.org/clinvar/95716 ^@ NM_015560.2(OPA1):c.1884A>G (p.Val628=) http://identifiers.org/clinvar/95717 ^@ NM_015560.2(OPA1):c.2109T>C (p.Ala703=) http://identifiers.org/clinvar/95718 ^@ NM_015560.2(OPA1):c.2167-19C>A http://identifiers.org/clinvar/95719 ^@ NM_015560.2(OPA1):c.2256G>T (p.Leu752=) http://identifiers.org/clinvar/95720 ^@ NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter) http://identifiers.org/clinvar/95721 ^@ NM_015560.2(OPA1):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/95722 ^@ NM_015560.2(OPA1):c.2613+11C>G http://identifiers.org/clinvar/95723 ^@ NM_015560.2(OPA1):c.2796C>T (p.Arg932=) http://identifiers.org/clinvar/95724 ^@ NM_015560.2(OPA1):c.321G>A (p.Ser107=) http://identifiers.org/clinvar/95725 ^@ NM_130831.2(OPA1):c.420G>T (p.Val140=) http://identifiers.org/clinvar/95726 ^@ NM_015560.2(OPA1):c.43C>A (p.Gln15Lys) http://identifiers.org/clinvar/95727 ^@ NM_015560.2(OPA1):c.473G>A (p.Ser158Asn) http://identifiers.org/clinvar/95728 ^@ NM_015560.2(OPA1):c.557-19T>C http://identifiers.org/clinvar/95729 ^@ NM_015560.2(OPA1):c.575C>T (p.Ala192Val) http://identifiers.org/clinvar/95730 ^@ NM_015560.2(OPA1):c.870+32T>C http://identifiers.org/clinvar/95731 ^@ NM_015560.2(OPA1):c.870+4T>C http://identifiers.org/clinvar/95732 ^@ NM_015560.2(OPA1):c.932C>A (p.Ala311Asp) http://identifiers.org/clinvar/95733 ^@ NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) http://identifiers.org/clinvar/95734 ^@ NM_015629.3(PRPF31):c.149C>T (p.Thr50Ile) http://identifiers.org/clinvar/95735 ^@ NM_015629.3(PRPF31):c.615C>A (p.Tyr205Ter) http://identifiers.org/clinvar/95736 ^@ NM_001034116.1(EIF2B4):c.1014-7A>G http://identifiers.org/clinvar/95737 ^@ NM_001034116.1(EIF2B4):c.1233C>T (p.Asn411=) http://identifiers.org/clinvar/95738 ^@ NM_001034116.1(EIF2B4):c.76-7G>A http://identifiers.org/clinvar/95739 ^@ NM_015884.3(MBTPS2):c.1468A>G (p.Lys490Glu) http://identifiers.org/clinvar/95740 ^@ NM_015884.3(MBTPS2):c.222A>G (p.Gln74=) http://identifiers.org/clinvar/95741 ^@ NM_015884.3(MBTPS2):c.23_34delTGGTGGTGGTGG (p.Val8_Val11del) http://identifiers.org/clinvar/95742 ^@ NM_015884.3(MBTPS2):c.472A>G (p.Thr158Ala) http://identifiers.org/clinvar/95743 ^@ NM_015884.3(MBTPS2):c.706A>G (p.Ile236Val) http://identifiers.org/clinvar/95744 ^@ NM_015910.5(WDPCP):c.1915+13G>A http://identifiers.org/clinvar/95745 ^@ NM_001129765.1(NSDHL):c.65C>T (p.Thr22Ile) http://identifiers.org/clinvar/95746 ^@ NM_016247.3(IMPG2):c.1582A>G (p.Ile528Val) http://identifiers.org/clinvar/95747 ^@ NM_016247.3(IMPG2):c.2021C>T (p.Thr674Ile) http://identifiers.org/clinvar/95748 ^@ NM_016247.3(IMPG2):c.2524C>A (p.Leu842Met) http://identifiers.org/clinvar/95749 ^@ NM_016247.3(IMPG2):c.3038C>T (p.Pro1013Leu) http://identifiers.org/clinvar/95750 ^@ NM_016725.2(FOLR1):c.493+2T>C http://identifiers.org/clinvar/95751 ^@ NM_016724.2(FOLR1):c.507C>T (p.Cys169=) http://identifiers.org/clinvar/95752 ^@ NM_016952.4(CDON):c.223G>A (p.Val75Ile) http://identifiers.org/clinvar/95753 ^@ NM_016952.4(CDON):c.330T>C (p.Pro110=) http://identifiers.org/clinvar/95754 ^@ NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs) http://identifiers.org/clinvar/95755 ^@ NM_001134831.1(AHI1):c.2972G>A (p.Arg991His) http://identifiers.org/clinvar/95756 ^@ NM_017651.4(AHI1):c.3368C>T (p.Ser1123Phe) http://identifiers.org/clinvar/95757 ^@ NM_017651.4(AHI1):c.3426+13G>A http://identifiers.org/clinvar/95758 ^@ NM_001243766.1(POMGNT1):c.236-13T>C http://identifiers.org/clinvar/95759 ^@ NM_001243766.1(POMGNT1):c.301G>A (p.Val101Ile) http://identifiers.org/clinvar/95760 ^@ NM_001243766.1(POMGNT1):c.582G>A (p.Arg194=) http://identifiers.org/clinvar/95761 ^@ NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) http://identifiers.org/clinvar/95762 ^@ NM_001243766.1(POMGNT1):c.92dupA (p.Asn31Lysfs) http://identifiers.org/clinvar/95763 ^@ NM_001123385.1(BCOR):c.1155G>A (p.Ala385=) http://identifiers.org/clinvar/95764 ^@ NM_017745.5(BCOR):c.1260T>C (p.Asp420=) http://identifiers.org/clinvar/95765 ^@ NM_017745.5(BCOR):c.1650C>T (p.Thr550=) http://identifiers.org/clinvar/95766 ^@ NM_017745.5(BCOR):c.1692A>G (p.Ala564=) http://identifiers.org/clinvar/95767 ^@ NM_017745.5(BCOR):c.1791C>T (p.His597=) http://identifiers.org/clinvar/95768 ^@ NM_001123385.1(BCOR):c.2125G>A (p.Gly709Ser) http://identifiers.org/clinvar/95769 ^@ NM_001123385.1(BCOR):c.3413T>C (p.Val1138Ala) http://identifiers.org/clinvar/95770 ^@ NM_001123385.1(BCOR):c.3468delT (p.Leu1157Cysfs) http://identifiers.org/clinvar/95771 ^@ NM_001123385.1(BCOR):c.4173+5C>T http://identifiers.org/clinvar/95772 ^@ NM_017745.5(BCOR):c.4875-4G>T http://identifiers.org/clinvar/95773 ^@ NM_017780.3(CHD7):c.1018A>G (p.Met340Val) http://identifiers.org/clinvar/95774 ^@ NM_017780.3(CHD7):c.1419G>C (p.Gly473=) http://identifiers.org/clinvar/95775 ^@ NM_017780.3(CHD7):c.156A>G (p.Pro52=) http://identifiers.org/clinvar/95776 ^@ NM_017780.3(CHD7):c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) http://identifiers.org/clinvar/95777 ^@ NM_017780.3(CHD7):c.2124T>C (p.Ser708=) http://identifiers.org/clinvar/95778 ^@ NM_017780.3(CHD7):c.216T>C (p.Tyr72=) http://identifiers.org/clinvar/95779 ^@ NM_017780.3(CHD7):c.2194C>G (p.Pro732Ala) http://identifiers.org/clinvar/95780 ^@ NM_017780.3(CHD7):c.277A>G (p.Thr93Ala) http://identifiers.org/clinvar/95781 ^@ NM_017780.3(CHD7):c.2839C>T (p.Arg947Ter) http://identifiers.org/clinvar/95782 ^@ NM_017780.3(CHD7):c.307T>A (p.Ser103Thr) http://identifiers.org/clinvar/95783 ^@ NM_017780.3(CHD7):c.309G>A (p.Ser103=) http://identifiers.org/clinvar/95784 ^@ NM_017780.3(CHD7):c.3202-5T>C http://identifiers.org/clinvar/95785 ^@ NM_017780.3(CHD7):c.331C>T (p.Pro111Ser) http://identifiers.org/clinvar/95786 ^@ NM_017780.3(CHD7):c.3366G>C (p.Lys1122Asn) http://identifiers.org/clinvar/95787 ^@ NM_017780.3(CHD7):c.3868G>C (p.Gly1290Arg) http://identifiers.org/clinvar/95788 ^@ NM_017780.3(CHD7):c.3949C>T (p.Arg1317Cys) http://identifiers.org/clinvar/95789 ^@ NM_017780.3(CHD7):c.4379_4380delTA (p.Ile1460Argfs) http://identifiers.org/clinvar/95790 ^@ NM_017780.3(CHD7):c.4437G>A (p.Gly1479=) http://identifiers.org/clinvar/95791 ^@ NM_017780.3(CHD7):c.4851T>C (p.Gly1617=) http://identifiers.org/clinvar/95792 ^@ NM_017780.3(CHD7):c.5051-4C>T http://identifiers.org/clinvar/95793 ^@ NM_017780.3(CHD7):c.5181C>G (p.Tyr1727Ter) http://identifiers.org/clinvar/95794 ^@ NM_017780.3(CHD7):c.5307C>T (p.Ala1769=) http://identifiers.org/clinvar/95795 ^@ NM_017780.3(CHD7):c.5405-7G>A http://identifiers.org/clinvar/95796 ^@ NM_017780.3(CHD7):c.5754T>C (p.Thr1918=) http://identifiers.org/clinvar/95797 ^@ NM_017780.3(CHD7):c.5895-1G>C http://identifiers.org/clinvar/95798 ^@ NM_017780.3(CHD7):c.6103+6T>C http://identifiers.org/clinvar/95799 ^@ NM_017780.3(CHD7):c.6103+8C>T http://identifiers.org/clinvar/95800 ^@ NM_017780.3(CHD7):c.6111C>T (p.Pro2037=) http://identifiers.org/clinvar/95801 ^@ NM_017780.3(CHD7):c.6216C>G (p.Pro2072=) http://identifiers.org/clinvar/95802 ^@ NM_017780.3(CHD7):c.6276G>A (p.Glu2092=) http://identifiers.org/clinvar/95803 ^@ NM_017780.3(CHD7):c.6282A>G (p.Gly2094=) http://identifiers.org/clinvar/95804 ^@ NM_017780.3(CHD7):c.6513C>T (p.Ala2171=) http://identifiers.org/clinvar/95805 ^@ NM_017780.3(CHD7):c.657C>T (p.Gly219=) http://identifiers.org/clinvar/95806 ^@ NM_017780.3(CHD7):c.6660T>G (p.Gly2220=) http://identifiers.org/clinvar/95807 ^@ NM_017780.3(CHD7):c.6711C>T (p.Ser2237=) http://identifiers.org/clinvar/95808 ^@ NM_017780.3(CHD7):c.6738G>A (p.Glu2246=) http://identifiers.org/clinvar/95809 ^@ NM_017780.3(CHD7):c.7085G>A (p.Ser2362Asn) http://identifiers.org/clinvar/95810 ^@ NM_017780.3(CHD7):c.7278G>A (p.Gln2426=) http://identifiers.org/clinvar/95811 ^@ NM_017780.3(CHD7):c.7356A>G (p.Thr2452=) http://identifiers.org/clinvar/95812 ^@ NM_017780.3(CHD7):c.7447G>A (p.Glu2483Lys) http://identifiers.org/clinvar/95813 ^@ NM_017780.3(CHD7):c.7463G>A (p.Gly2488Asp) http://identifiers.org/clinvar/95814 ^@ NM_017780.3(CHD7):c.8416C>G (p.Leu2806Val) http://identifiers.org/clinvar/95815 ^@ NM_017780.3(CHD7):c.8439C>T (p.Gly2813=) http://identifiers.org/clinvar/95816 ^@ NM_017780.3(CHD7):c.8950C>T (p.Leu2984Phe) http://identifiers.org/clinvar/95817 ^@ NM_017791.2(FLVCR2):c.376C>T (p.Leu126=) http://identifiers.org/clinvar/95818 ^@ NM_017791.2(FLVCR2):c.47T>C (p.Val16Ala) http://identifiers.org/clinvar/95819 ^@ NM_017791.2(FLVCR2):c.543G>A (p.Val181=) http://identifiers.org/clinvar/95820 ^@ NM_017791.2(FLVCR2):c.648C>G (p.Ser216=) http://identifiers.org/clinvar/95821 ^@ NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) http://identifiers.org/clinvar/95822 ^@ NM_017890.4(VPS13B):c.10543A>G (p.Ile3515Val) http://identifiers.org/clinvar/95823 ^@ NM_017890.4(VPS13B):c.10643A>G (p.Tyr3548Cys) http://identifiers.org/clinvar/95824 ^@ NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) http://identifiers.org/clinvar/95825 ^@ NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) http://identifiers.org/clinvar/95826 ^@ NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) http://identifiers.org/clinvar/95827 ^@ NM_017890.4(VPS13B):c.11153G>C (p.Ser3718Thr) http://identifiers.org/clinvar/95828 ^@ NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) http://identifiers.org/clinvar/95829 ^@ NM_017890.4(VPS13B):c.11820+5G>A http://identifiers.org/clinvar/95830 ^@ NM_017890.4(VPS13B):c.11927T>C (p.Ile3976Thr) http://identifiers.org/clinvar/95831 ^@ NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) http://identifiers.org/clinvar/95832 ^@ NM_017890.4(VPS13B):c.1463C>T (p.Thr488Met) http://identifiers.org/clinvar/95833 ^@ NM_017890.4(VPS13B):c.1567A>G (p.Thr523Ala) http://identifiers.org/clinvar/95834 ^@ NM_017890.4(VPS13B):c.1700G>A (p.Gly567Glu) http://identifiers.org/clinvar/95835 ^@ NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) http://identifiers.org/clinvar/95836 ^@ NM_017890.4(VPS13B):c.1864A>G (p.Thr622Ala) http://identifiers.org/clinvar/95837 ^@ NM_017890.4(VPS13B):c.2124T>C (p.Ala708=) http://identifiers.org/clinvar/95838 ^@ NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) http://identifiers.org/clinvar/95839 ^@ NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) http://identifiers.org/clinvar/95840 ^@ NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) http://identifiers.org/clinvar/95841 ^@ NM_017890.4(VPS13B):c.2651-10T>G http://identifiers.org/clinvar/95842 ^@ NM_017890.4(VPS13B):c.2847A>G (p.Ile949Met) http://identifiers.org/clinvar/95843 ^@ NM_017890.4(VPS13B):c.2906A>G (p.Gln969Arg) http://identifiers.org/clinvar/95844 ^@ NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) http://identifiers.org/clinvar/95845 ^@ NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) http://identifiers.org/clinvar/95846 ^@ NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter) http://identifiers.org/clinvar/95847 ^@ NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr) http://identifiers.org/clinvar/95848 ^@ NM_017890.4(VPS13B):c.3667-7C>T http://identifiers.org/clinvar/95849 ^@ NM_152564.4(VPS13B):c.3751A>G (p.Thr1251Ala) http://identifiers.org/clinvar/95850 ^@ NM_017890.4(VPS13B):c.3751A>T (p.Thr1251Ser) http://identifiers.org/clinvar/95851 ^@ NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) http://identifiers.org/clinvar/95852 ^@ NM_017890.4(VPS13B):c.4197T>C (p.Gly1399=) http://identifiers.org/clinvar/95853 ^@ NM_017890.4(VPS13B):c.4200C>T (p.Val1400=) http://identifiers.org/clinvar/95854 ^@ NM_017890.4(VPS13B):c.4337A>G (p.His1446Arg) http://identifiers.org/clinvar/95855 ^@ NM_017890.4(VPS13B):c.5030G>A (p.Arg1677Gln) http://identifiers.org/clinvar/95856 ^@ NM_017890.4(VPS13B):c.524C>G (p.Ser175Cys) http://identifiers.org/clinvar/95857 ^@ NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) http://identifiers.org/clinvar/95858 ^@ NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) http://identifiers.org/clinvar/95859 ^@ NM_017890.4(VPS13B):c.6096G>T (p.Gln2032His) http://identifiers.org/clinvar/95860 ^@ NM_017890.4(VPS13B):c.6341G>T (p.Gly2114Val) http://identifiers.org/clinvar/95861 ^@ NM_017890.4(VPS13B):c.6530-4dupT http://identifiers.org/clinvar/95862 ^@ NM_017890.4(VPS13B):c.6706A>C (p.Ile2236Leu) http://identifiers.org/clinvar/95863 ^@ NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) http://identifiers.org/clinvar/95864 ^@ NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) http://identifiers.org/clinvar/95865 ^@ NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) http://identifiers.org/clinvar/95866 ^@ NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) http://identifiers.org/clinvar/95867 ^@ NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) http://identifiers.org/clinvar/95868 ^@ NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) http://identifiers.org/clinvar/95869 ^@ NM_017890.4(VPS13B):c.7855-19C>T http://identifiers.org/clinvar/95870 ^@ NM_017890.4(VPS13B):c.7997G>A (p.Arg2666His) http://identifiers.org/clinvar/95871 ^@ NM_017890.4(VPS13B):c.8025C>T (p.His2675=) http://identifiers.org/clinvar/95872 ^@ NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) http://identifiers.org/clinvar/95873 ^@ NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) http://identifiers.org/clinvar/95874 ^@ NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) http://identifiers.org/clinvar/95875 ^@ NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) http://identifiers.org/clinvar/95876 ^@ NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) http://identifiers.org/clinvar/95877 ^@ NM_017929.5(PEX26):c.457C>G (p.Leu153Val) http://identifiers.org/clinvar/95878 ^@ NM_017929.5(PEX26):c.669C>A (p.Gly223=) http://identifiers.org/clinvar/95879 ^@ NM_017929.5(PEX26):c.728C>T (p.Ala243Val) http://identifiers.org/clinvar/95880 ^@ NM_017950.3(CCDC40):c.3340G>A (p.Val1114Met) http://identifiers.org/clinvar/95881 ^@ NM_018055.4(NODAL):c.193+12C>T http://identifiers.org/clinvar/95882 ^@ NM_018055.4(NODAL):c.494A>G (p.His165Arg) http://identifiers.org/clinvar/95883 ^@ NM_018055.4(NODAL):c.904C>T (p.Arg302Cys) http://identifiers.org/clinvar/95885 ^@ NM_018094.4(GSPT2):c.322dupG (p.Ala108Glyfs) http://identifiers.org/clinvar/95886 ^@ NM_018100.3(EFHC1):c.629A>T (p.Asp210Val) http://identifiers.org/clinvar/95887 ^@ NM_018136.4(ASPM):c.2174-20T>C http://identifiers.org/clinvar/95888 ^@ NM_018136.4(ASPM):c.441+14C>T http://identifiers.org/clinvar/95889 ^@ NM_018136.4(ASPM):c.5185C>T (p.Arg1729Trp) http://identifiers.org/clinvar/95890 ^@ NM_018136.4(ASPM):c.849C>T (p.Ser283=) http://identifiers.org/clinvar/95891 ^@ NM_018139.2(DNAAF2):c.1185G>C (p.Ala395=) http://identifiers.org/clinvar/95892 ^@ NM_018139.2(DNAAF2):c.1482A>G (p.Thr494=) http://identifiers.org/clinvar/95893 ^@ NM_018139.2(DNAAF2):c.186G>C (p.Glu62Asp) http://identifiers.org/clinvar/95894 ^@ NM_018139.2(DNAAF2):c.498C>T (p.Ala166=) http://identifiers.org/clinvar/95895 ^@ NM_018249.5(CDK5RAP2):c.-19T>C http://identifiers.org/clinvar/95896 ^@ NM_018249.5(CDK5RAP2):c.-3G>T http://identifiers.org/clinvar/95897 ^@ NM_018328.4(MBD5):c.1837A>G (p.Asn613Asp) http://identifiers.org/clinvar/95898 ^@ NM_018328.4(MBD5):c.1955A>G (p.Gln652Arg) http://identifiers.org/clinvar/95899 ^@ NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) http://identifiers.org/clinvar/95900 ^@ NM_018328.4(MBD5):c.2101A>G (p.Met701Val) http://identifiers.org/clinvar/95901 ^@ NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) http://identifiers.org/clinvar/95902 ^@ NM_018328.4(MBD5):c.2711G>A (p.Ser904Asn) http://identifiers.org/clinvar/95903 ^@ NM_018389.4(SLC35C1):c.-3A>G http://identifiers.org/clinvar/95904 ^@ NM_018389.4(SLC35C1):c.663G>A (p.Pro221=) http://identifiers.org/clinvar/95905 ^@ NM_018389.4(SLC35C1):c.718A>G (p.Ile240Val) http://identifiers.org/clinvar/95906 ^@ NM_018389.4(SLC35C1):c.91G>T (p.Glu31Ter) http://identifiers.org/clinvar/95907 ^@ NM_018418.4(SPATA7):c.4G>A (p.Asp2Asn) http://identifiers.org/clinvar/95908 ^@ NM_018418.4(SPATA7):c.729C>T (p.Arg243=) http://identifiers.org/clinvar/95909 ^@ NM_018451.4(CENPJ):c.1881G>A (p.Pro627=) http://identifiers.org/clinvar/95910 ^@ NM_018714.2(COG1):c.1049C>T (p.Thr350Met) http://identifiers.org/clinvar/95911 ^@ NM_018714.2(COG1):c.1175A>G (p.Asn392Ser) http://identifiers.org/clinvar/95912 ^@ NM_018714.2(COG1):c.1357G>C (p.Glu453Gln) http://identifiers.org/clinvar/95913 ^@ NM_018714.2(COG1):c.1473C>T (p.Ser491=) http://identifiers.org/clinvar/95914 ^@ NM_018714.2(COG1):c.1782G>A (p.Glu594=) http://identifiers.org/clinvar/95915 ^@ NM_018714.2(COG1):c.2024_2026delTCC (p.Leu675del) http://identifiers.org/clinvar/95916 ^@ NM_018714.2(COG1):c.2383-17T>C http://identifiers.org/clinvar/95917 ^@ NM_018714.2(COG1):c.333G>A (p.Gln111=) http://identifiers.org/clinvar/95918 ^@ NM_018714.2(COG1):c.401C>T (p.Ser134Leu) http://identifiers.org/clinvar/95919 ^@ NM_018714.2(COG1):c.543A>G (p.Ala181=) http://identifiers.org/clinvar/95920 ^@ NM_018714.2(COG1):c.903G>C (p.Gln301His) http://identifiers.org/clinvar/95921 ^@ NM_170784.2(MKKS):c.1474G>A (p.Asp492Asn) http://identifiers.org/clinvar/95922 ^@ NM_018848.3(MKKS):c.1549C>T (p.Arg517Cys) http://identifiers.org/clinvar/95923 ^@ NM_018848.3(MKKS):c.1595G>T (p.Gly532Val) http://identifiers.org/clinvar/95924 ^@ NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) http://identifiers.org/clinvar/95925 ^@ NM_018977.3(NLGN3):c.2190C>T (p.Ala730=) http://identifiers.org/clinvar/95926 ^@ NM_018977.3(NLGN3):c.282G>A (p.Ser94=) http://identifiers.org/clinvar/95927 ^@ NM_018977.3(NLGN3):c.534T>C (p.Gly178=) http://identifiers.org/clinvar/95928 ^@ NM_018977.3(NLGN3):c.543C>T (p.Pro181=) http://identifiers.org/clinvar/95929 ^@ NM_019098.4(CNGB3):c.892A>C (p.Thr298Pro) http://identifiers.org/clinvar/95930 ^@ NM_019109.4(ALG1):c.1037C>G (p.Pro346Arg) http://identifiers.org/clinvar/95931 ^@ NM_019109.4(ALG1):c.1079C>T (p.Ala360Val) http://identifiers.org/clinvar/95932 ^@ NM_019109.4(ALG1):c.1149C>T (p.Phe383=) http://identifiers.org/clinvar/95933 ^@ NM_019109.4(ALG1):c.1162C>T (p.Pro388Ser) http://identifiers.org/clinvar/95934 ^@ NM_019109.4(ALG1):c.1187+1G>A http://identifiers.org/clinvar/95935 ^@ NM_019109.4(ALG1):c.208+16_208+19dupTCTG http://identifiers.org/clinvar/95936 ^@ NM_019109.4(ALG1):c.390+13C>T http://identifiers.org/clinvar/95937 ^@ NM_019109.4(ALG1):c.840G>C (p.Leu280=) http://identifiers.org/clinvar/95938 ^@ NM_020166.4(MCCC1):c.1074delG (p.Trp358Cysfs) http://identifiers.org/clinvar/95939 ^@ NM_020166.4(MCCC1):c.1277T>C (p.Val426Ala) http://identifiers.org/clinvar/95940 ^@ NM_020166.4(MCCC1):c.1315G>A (p.Val439Met) http://identifiers.org/clinvar/95941 ^@ NM_020166.4(MCCC1):c.1391A>C (p.His464Pro) http://identifiers.org/clinvar/95942 ^@ NM_020166.4(MCCC1):c.156C>A (p.Val52=) http://identifiers.org/clinvar/95943 ^@ NM_020166.4(MCCC1):c.396C>T (p.Leu132=) http://identifiers.org/clinvar/95944 ^@ NM_020184.3(CNNM4):c.399G>A (p.Val133=) http://identifiers.org/clinvar/95945 ^@ NM_020365.4(EIF2B3):c.1202+8T>G http://identifiers.org/clinvar/95946 ^@ NM_020365.4(EIF2B3):c.149-4A>G http://identifiers.org/clinvar/95947 ^@ NM_020365.4(EIF2B3):c.243C>T (p.Asp81=) http://identifiers.org/clinvar/95948 ^@ NM_020366.3(RPGRIP1):c.2555G>A (p.Arg852Gln) http://identifiers.org/clinvar/95949 ^@ NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) http://identifiers.org/clinvar/95950 ^@ NM_020366.3(RPGRIP1):c.3414C>T (p.Asn1138=) http://identifiers.org/clinvar/95951 ^@ NM_020366.3(RPGRIP1):c.376G>C (p.Gly126Arg) http://identifiers.org/clinvar/95952 ^@ NM_020366.3(RPGRIP1):c.783G>A (p.Gln261=) http://identifiers.org/clinvar/95953 ^@ NM_020433.4(JPH2):c.1665G>A (p.Ser555=) http://identifiers.org/clinvar/95954 ^@ NM_020433.4(JPH2):c.624C>G (p.Ala208=) http://identifiers.org/clinvar/95955 ^@ NM_020451.2(SELENON):c.103G>C (p.Gly35Arg) http://identifiers.org/clinvar/95956 ^@ NM_020451.2(SELENON):c.1173T>C (p.Pro391=) http://identifiers.org/clinvar/95957 ^@ NM_020451.2(SELENON):c.1246C>T (p.Arg416Trp) http://identifiers.org/clinvar/95958 ^@ NM_020451.2(SELENON):c.1315C>T (p.Arg439Ter) http://identifiers.org/clinvar/95959 ^@ NM_020451.2(SELENON):c.1506C>A (p.Asn502Lys) http://identifiers.org/clinvar/95960 ^@ NM_020451.2(SELENON):c.1596C>T (p.Gly532=) http://identifiers.org/clinvar/95961 ^@ NM_020451.2(SELENON):c.1654G>A (p.Glu552Lys) http://identifiers.org/clinvar/95962 ^@ NM_020451.2(SELENON):c.301+1G>T http://identifiers.org/clinvar/95963 ^@ NM_020451.2(SELENON):c.425G>A (p.Cys142Tyr) http://identifiers.org/clinvar/95964 ^@ NM_020451.2(SELENON):c.42C>T (p.Pro14=) http://identifiers.org/clinvar/95965 ^@ NM_020451.2(SELENON):c.436_438dupGAG (p.Glu146_Leu147insGlu) http://identifiers.org/clinvar/95966 ^@ NM_020451.2(SELENON):c.583G>A (p.Ala195Thr) http://identifiers.org/clinvar/95967 ^@ NM_020451.2(SELENON):c.981C>T (p.Arg327=) http://identifiers.org/clinvar/95968 ^@ NM_020717.3(SHROOM4):c.1100T>C (p.Val367Ala) http://identifiers.org/clinvar/95969 ^@ NM_020717.3(SHROOM4):c.3168T>C (p.Arg1056=) http://identifiers.org/clinvar/95970 ^@ NM_020717.3(SHROOM4):c.3372_3383dupACAGCAGCAGCA (p.Gln1128_Lys1129insGlnGlnGlnGln) http://identifiers.org/clinvar/95971 ^@ NM_020717.3(SHROOM4):c.3411_3413dupGGA (p.Glu1151_Ala1152insGlu) http://identifiers.org/clinvar/95972 ^@ NM_020717.3(SHROOM4):c.3414A>G (p.Glu1138=) http://identifiers.org/clinvar/95973 ^@ NM_020717.3(SHROOM4):c.3468A>G (p.Glu1156=) http://identifiers.org/clinvar/95974 ^@ NM_020717.3(SHROOM4):c.4101G>T (p.Leu1367Phe) http://identifiers.org/clinvar/95975 ^@ NM_181332.2(NLGN4X):c.105G>A (p.Lys35=) http://identifiers.org/clinvar/95976 ^@ NM_181332.2(NLGN4X):c.115A>G (p.Ile39Val) http://identifiers.org/clinvar/95977 ^@ NM_020742.3(NLGN4X):c.1251G>C (p.Arg417=) http://identifiers.org/clinvar/95978 ^@ NM_181332.2(NLGN4X):c.1305G>A (p.Thr435=) http://identifiers.org/clinvar/95979 ^@ NM_181332.2(NLGN4X):c.1434C>T (p.Ser478=) http://identifiers.org/clinvar/95980 ^@ NM_020742.3(NLGN4X):c.1777C>T (p.Leu593Phe) http://identifiers.org/clinvar/95981 ^@ NM_020742.3(NLGN4X):c.1779C>G (p.Leu593=) http://identifiers.org/clinvar/95982 ^@ NM_181332.2(NLGN4X):c.2271G>A (p.Pro757=) http://identifiers.org/clinvar/95983 ^@ NM_181332.2(NLGN4X):c.2280C>T (p.Tyr760=) http://identifiers.org/clinvar/95984 ^@ NM_181332.2(NLGN4X):c.48G>A (p.Pro16=) http://identifiers.org/clinvar/95985 ^@ NM_181332.2(NLGN4X):c.558C>T (p.Asp186=) http://identifiers.org/clinvar/95986 ^@ NM_181332.2(NLGN4X):c.579C>T (p.Tyr193=) http://identifiers.org/clinvar/95987 ^@ NM_020742.3(NLGN4X):c.933C>T (p.Thr311=) http://identifiers.org/clinvar/95988 ^@ NM_181332.2(NLGN4X):c.959A>G (p.Asn320Ser) http://identifiers.org/clinvar/95989 ^@ NM_181332.2(NLGN4X):c.999G>A (p.Pro333=) http://identifiers.org/clinvar/95990 ^@ NM_020751.2(COG6):c.1074+18T>C http://identifiers.org/clinvar/95991 ^@ NM_020751.2(COG6):c.1693-4delA http://identifiers.org/clinvar/95992 ^@ NM_020751.2(COG6):c.1693-6A>T http://identifiers.org/clinvar/95995 ^@ NM_020975.4(RET):c.1296A>G (p.Ala432=) http://identifiers.org/clinvar/95996 ^@ NM_020975.4(RET):c.337+9G>A http://identifiers.org/clinvar/95997 ^@ NM_020975.4(RET):c.375C>A (p.Val125=) http://identifiers.org/clinvar/95998 ^@ NM_020975.4(RET):c.867+4delC http://identifiers.org/clinvar/95999 ^@ NM_021072.3(HCN1):c.201_209delTGGCGGCGG (p.Gly72_Gly74del) http://identifiers.org/clinvar/96000 ^@ NM_021098.2(CACNA1H):c.1353C>T (p.Ser451=) http://identifiers.org/clinvar/96001 ^@ NM_021098.2(CACNA1H):c.1664C>T (p.Ala555Val) http://identifiers.org/clinvar/96002 ^@ NM_021098.2(CACNA1H):c.1668C>T (p.Pro556=) http://identifiers.org/clinvar/96003 ^@ NM_021098.2(CACNA1H):c.1809A>G (p.Arg603=) http://identifiers.org/clinvar/96004 ^@ NM_021098.2(CACNA1H):c.1844C>T (p.Thr615Met) http://identifiers.org/clinvar/96005 ^@ NM_021098.2(CACNA1H):c.1919C>T (p.Pro640Leu) http://identifiers.org/clinvar/96006 ^@ NM_021098.2(CACNA1H):c.1991T>C (p.Val664Ala) http://identifiers.org/clinvar/96007 ^@ NM_021098.2(CACNA1H):c.2265C>T (p.Gly755=) http://identifiers.org/clinvar/96009 ^@ NM_021098.2(CACNA1H):c.2603+12C>T http://identifiers.org/clinvar/96010 ^@ NM_021098.2(CACNA1H):c.3555G>A (p.Ala1185=) http://identifiers.org/clinvar/96011 ^@ NM_021098.2(CACNA1H):c.3957T>C (p.Asp1319=) http://identifiers.org/clinvar/96012 ^@ NM_021098.2(CACNA1H):c.4488G>A (p.Ser1496=) http://identifiers.org/clinvar/96013 ^@ NM_021098.2(CACNA1H):c.4817C>T (p.Thr1606Met) http://identifiers.org/clinvar/96014 ^@ NM_021098.2(CACNA1H):c.6123T>C (p.Gly2041=) http://identifiers.org/clinvar/96015 ^@ NM_021098.2(CACNA1H):c.6179G>A (p.Arg2060His) http://identifiers.org/clinvar/96016 ^@ NM_021098.2(CACNA1H):c.6230G>A (p.Arg2077His) http://identifiers.org/clinvar/96017 ^@ NM_021098.2(CACNA1H):c.6234C>T (p.Cys2078=) http://identifiers.org/clinvar/96018 ^@ NM_021098.2(CACNA1H):c.6417T>C (p.Asp2139=) http://identifiers.org/clinvar/96019 ^@ NM_021098.2(CACNA1H):c.6678G>A (p.Thr2226=) http://identifiers.org/clinvar/96020 ^@ NM_021120.3(DLG3):c.304G>A (p.Gly102Ser) http://identifiers.org/clinvar/96021 ^@ NM_021734.4(SLC25A19):c.622C>T (p.Pro208Ser) http://identifiers.org/clinvar/96022 ^@ NM_001008211.1(OPTN):c.102G>A (p.Thr34=) http://identifiers.org/clinvar/96023 ^@ NM_021980.4(OPTN):c.123G>A (p.Leu41=) http://identifiers.org/clinvar/96024 ^@ NM_022124.5(CDH23):c.1981G>A (p.Val661Met) http://identifiers.org/clinvar/96025 ^@ NM_022124.5(CDH23):c.2394C>T (p.Thr798=) http://identifiers.org/clinvar/96026 ^@ NM_022124.5(CDH23):c.7049C>T (p.Ser2350Leu) http://identifiers.org/clinvar/96027 ^@ NM_022132.4(MCCC2):c.1019A>T (p.Asp340Val) http://identifiers.org/clinvar/96028 ^@ NM_022132.4(MCCC2):c.116C>T (p.Ser39Phe) http://identifiers.org/clinvar/96029 ^@ NM_022132.4(MCCC2):c.1368A>G (p.Ala456=) http://identifiers.org/clinvar/96030 ^@ NM_022132.4(MCCC2):c.1433C>G (p.Ala478Gly) http://identifiers.org/clinvar/96031 ^@ NM_022132.4(MCCC2):c.380C>G (p.Ser127Ter) http://identifiers.org/clinvar/96032 ^@ NM_022132.4(MCCC2):c.904-12A>G http://identifiers.org/clinvar/96033 ^@ NM_001193300.1(SEMA4A):c.1301T>C (p.Met434Thr) http://identifiers.org/clinvar/96034 ^@ NM_022455.4(NSD1):c.1364T>C (p.Met455Thr) http://identifiers.org/clinvar/96035 ^@ NM_022455.4(NSD1):c.1482C>T (p.Cys494=) http://identifiers.org/clinvar/96036 ^@ NM_022455.4(NSD1):c.1515T>C (p.Asn505=) http://identifiers.org/clinvar/96037 ^@ NM_022455.4(NSD1):c.1666A>G (p.Asn556Asp) http://identifiers.org/clinvar/96038 ^@ NM_022455.4(NSD1):c.1749G>A (p.Glu583=) http://identifiers.org/clinvar/96039 ^@ NM_022455.4(NSD1):c.1770A>G (p.Leu590=) http://identifiers.org/clinvar/96040 ^@ NM_022455.4(NSD1):c.1792T>C (p.Leu598=) http://identifiers.org/clinvar/96041 ^@ NM_022455.4(NSD1):c.1829A>G (p.Gln610Arg) http://identifiers.org/clinvar/96042 ^@ NM_022455.4(NSD1):c.1840G>T (p.Val614Leu) http://identifiers.org/clinvar/96043 ^@ NM_022455.4(NSD1):c.2176T>C (p.Ser726Pro) http://identifiers.org/clinvar/96044 ^@ NM_022455.4(NSD1):c.2349delA (p.Lys783Asnfs) http://identifiers.org/clinvar/96045 ^@ NM_022455.4(NSD1):c.2350C>G (p.Gln784Glu) http://identifiers.org/clinvar/96046 ^@ NM_022455.4(NSD1):c.2399T>C (p.Met800Thr) http://identifiers.org/clinvar/96047 ^@ NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) http://identifiers.org/clinvar/96048 ^@ NM_022455.4(NSD1):c.2711A>C (p.Asp904Ala) http://identifiers.org/clinvar/96049 ^@ NM_022455.4(NSD1):c.2835T>C (p.Ser945=) http://identifiers.org/clinvar/96050 ^@ NM_022455.4(NSD1):c.2985A>G (p.Leu995=) http://identifiers.org/clinvar/96051 ^@ NM_022455.4(NSD1):c.3088T>C (p.Leu1030=) http://identifiers.org/clinvar/96052 ^@ NM_022455.4(NSD1):c.3150C>T (p.Thr1050=) http://identifiers.org/clinvar/96053 ^@ NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) http://identifiers.org/clinvar/96054 ^@ NM_022455.4(NSD1):c.3389A>G (p.Glu1130Gly) http://identifiers.org/clinvar/96055 ^@ NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) http://identifiers.org/clinvar/96056 ^@ NM_022455.4(NSD1):c.3558C>G (p.Ala1186=) http://identifiers.org/clinvar/96057 ^@ NM_022455.4(NSD1):c.3705T>C (p.Asn1235=) http://identifiers.org/clinvar/96058 ^@ NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) http://identifiers.org/clinvar/96059 ^@ NM_022455.4(NSD1):c.4498-10delT http://identifiers.org/clinvar/96060 ^@ NM_022455.4(NSD1):c.4844A>G (p.Tyr1615Cys) http://identifiers.org/clinvar/96061 ^@ NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) http://identifiers.org/clinvar/96062 ^@ NM_022455.4(NSD1):c.5279_5282delTCTG (p.Val1760Glyfs) http://identifiers.org/clinvar/96063 ^@ NM_022455.4(NSD1):c.5520A>G (p.Glu1840=) http://identifiers.org/clinvar/96064 ^@ NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) http://identifiers.org/clinvar/96065 ^@ NM_022455.4(NSD1):c.6173A>G (p.Tyr2058Cys) http://identifiers.org/clinvar/96066 ^@ NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) http://identifiers.org/clinvar/96067 ^@ NM_022455.4(NSD1):c.6463+1G>A http://identifiers.org/clinvar/96068 ^@ NM_022455.4(NSD1):c.6533G>A (p.Cys2178Tyr) http://identifiers.org/clinvar/96069 ^@ NM_022455.4(NSD1):c.6538_6539insC (p.Ser2180Thrfs) http://identifiers.org/clinvar/96070 ^@ NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) http://identifiers.org/clinvar/96071 ^@ NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) http://identifiers.org/clinvar/96072 ^@ NM_022455.4(NSD1):c.6796A>G (p.Lys2266Glu) http://identifiers.org/clinvar/96073 ^@ NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) http://identifiers.org/clinvar/96074 ^@ NM_022455.4(NSD1):c.6903G>C (p.Gly2301=) http://identifiers.org/clinvar/96075 ^@ NM_022455.4(NSD1):c.7033G>T (p.Val2345Phe) http://identifiers.org/clinvar/96076 ^@ NM_022455.4(NSD1):c.753_755delAGC (p.Ala252del) http://identifiers.org/clinvar/96077 ^@ NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser) http://identifiers.org/clinvar/96078 ^@ NM_022455.4(NSD1):c.7597C>G (p.Leu2533Val) http://identifiers.org/clinvar/96079 ^@ NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) http://identifiers.org/clinvar/96080 ^@ NM_022455.4(NSD1):c.7742A>G (p.Lys2581Arg) http://identifiers.org/clinvar/96081 ^@ NM_022455.4(NSD1):c.7779C>T (p.Ala2593=) http://identifiers.org/clinvar/96082 ^@ NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) http://identifiers.org/clinvar/96083 ^@ NM_001037633.1(SIL1):c.1029+7G>A http://identifiers.org/clinvar/96084 ^@ NM_001037633.1(SIL1):c.1255G>A (p.Gly419Ser) http://identifiers.org/clinvar/96085 ^@ NM_022464.4(SIL1):c.153A>G (p.Thr51=) http://identifiers.org/clinvar/96086 ^@ NM_022464.4(SIL1):c.368C>T (p.Thr123Ile) http://identifiers.org/clinvar/96087 ^@ NM_022567.2(NYX):c.1203G>A (p.Pro401=) http://identifiers.org/clinvar/96088 ^@ NM_024079.4(ALG8):c.*20A>G http://identifiers.org/clinvar/96089 ^@ NM_024079.4(ALG8):c.1178G>A (p.Ser393Asn) http://identifiers.org/clinvar/96090 ^@ NM_024079.4(ALG8):c.121C>T (p.Arg41Ter) http://identifiers.org/clinvar/96091 ^@ NM_024079.4(ALG8):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/96092 ^@ NM_024079.4(ALG8):c.665A>G (p.Asn222Ser) http://identifiers.org/clinvar/96093 ^@ NM_001007027.2(ALG8):c.803G>A (p.Arg268Gln) http://identifiers.org/clinvar/96094 ^@ NM_024105.3(ALG12):c.1155C>T (p.Pro385=) http://identifiers.org/clinvar/96095 ^@ NM_024105.3(ALG12):c.1177A>G (p.Ile393Val) http://identifiers.org/clinvar/96096 ^@ NM_024105.3(ALG12):c.163-19C>A http://identifiers.org/clinvar/96097 ^@ NM_024105.3(ALG12):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/96098 ^@ NM_024105.3(ALG12):c.664+12A>G http://identifiers.org/clinvar/96099 ^@ NM_024105.3(ALG12):c.664+9G>C http://identifiers.org/clinvar/96100 ^@ NM_024105.3(ALG12):c.698G>A (p.Arg233Gln) http://identifiers.org/clinvar/96101 ^@ NM_024105.3(ALG12):c.869C>T (p.Ala290Val) http://identifiers.org/clinvar/96102 ^@ NM_024105.3(ALG12):c.885A>G (p.Ala295=) http://identifiers.org/clinvar/96103 ^@ NM_024296.4(CCDC28B):c.336G>A (p.Lys112=) http://identifiers.org/clinvar/96104 ^@ NM_024301.4(FKRP):c.-34C>T http://identifiers.org/clinvar/96105 ^@ NM_024301.4(FKRP):c.135C>T (p.Ala45=) http://identifiers.org/clinvar/96106 ^@ NM_024301.4(FKRP):c.1440C>T (p.Asn480=) http://identifiers.org/clinvar/96107 ^@ NM_024301.4(FKRP):c.249C>T (p.Ala83=) http://identifiers.org/clinvar/96108 ^@ NM_024301.4(FKRP):c.341C>G (p.Ala114Gly) http://identifiers.org/clinvar/96109 ^@ NM_024301.4(FKRP):c.404C>A (p.Ala135Asp) http://identifiers.org/clinvar/96110 ^@ NM_024301.4(FKRP):c.520A>T (p.Ser174Cys) http://identifiers.org/clinvar/96111 ^@ NM_024301.4(FKRP):c.581T>A (p.Leu194Gln) http://identifiers.org/clinvar/96112 ^@ NM_024301.4(FKRP):c.585C>T (p.Asp195=) http://identifiers.org/clinvar/96113 ^@ NM_024301.4(FKRP):c.606G>A (p.Leu202=) http://identifiers.org/clinvar/96114 ^@ NM_024301.4(FKRP):c.696G>T (p.Ala232=) http://identifiers.org/clinvar/96115 ^@ NM_024301.4(FKRP):c.941C>T (p.Thr314Met) http://identifiers.org/clinvar/96116 ^@ NM_024312.4(GNPTAB):c.1036_1037delAT (p.Ile346Phefs) http://identifiers.org/clinvar/96117 ^@ NM_024312.4(GNPTAB):c.1298G>A (p.Trp433Ter) http://identifiers.org/clinvar/96118 ^@ NM_024312.4(GNPTAB):c.18G>A (p.Leu6=) http://identifiers.org/clinvar/96119 ^@ NM_024312.4(GNPTAB):c.1932A>G (p.Thr644=) http://identifiers.org/clinvar/96120 ^@ NM_024312.4(GNPTAB):c.2896delA (p.Met966Cysfs) http://identifiers.org/clinvar/96121 ^@ NM_024312.4(GNPTAB):c.3135+5T>C http://identifiers.org/clinvar/96122 ^@ NM_024312.4(GNPTAB):c.3602+8C>A http://identifiers.org/clinvar/96124 ^@ NM_024312.4(GNPTAB):c.732_733delAA (p.Lys244Asnfs) http://identifiers.org/clinvar/96125 ^@ NM_024592.4(SRD5A3):c.57G>A (p.Trp19Ter) http://identifiers.org/clinvar/96126 ^@ NM_024596.4(MCPH1):c.1175A>G (p.Asp392Gly) http://identifiers.org/clinvar/96127 ^@ NM_024596.4(MCPH1):c.1236T>C (p.Tyr412=) http://identifiers.org/clinvar/96128 ^@ NM_024596.4(MCPH1):c.1428C>T (p.Phe476=) http://identifiers.org/clinvar/96129 ^@ NM_024596.4(MCPH1):c.1495G>A (p.Val499Met) http://identifiers.org/clinvar/96130 ^@ NM_024649.4(BBS1):c.1474-8C>T http://identifiers.org/clinvar/96131 ^@ NM_024649.4(BBS1):c.724-8G>C http://identifiers.org/clinvar/96132 ^@ NM_024649.4(BBS1):c.831-5C>T http://identifiers.org/clinvar/96133 ^@ NM_024740.2(ALG9):c.132-13T>G http://identifiers.org/clinvar/96134 ^@ NM_024740.2(ALG9):c.406-7C>T http://identifiers.org/clinvar/96135 ^@ NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) http://identifiers.org/clinvar/96136 ^@ NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) http://identifiers.org/clinvar/96137 ^@ NM_024753.4(TTC21B):c.1417C>T (p.Leu473Phe) http://identifiers.org/clinvar/96138 ^@ NM_024753.4(TTC21B):c.2385G>C (p.Leu795=) http://identifiers.org/clinvar/96139 ^@ NM_024757.4(EHMT1):c.128C>G (p.Ala43Gly) http://identifiers.org/clinvar/96140 ^@ NM_024757.4(EHMT1):c.129A>T (p.Ala43=) http://identifiers.org/clinvar/96141 ^@ NM_024757.4(EHMT1):c.1369+9C>T http://identifiers.org/clinvar/96142 ^@ NM_024757.4(EHMT1):c.1501+13G>T http://identifiers.org/clinvar/96143 ^@ NM_024757.4(EHMT1):c.1648-20C>T http://identifiers.org/clinvar/96144 ^@ NM_024757.4(EHMT1):c.1743C>T (p.Arg581=) http://identifiers.org/clinvar/96145 ^@ NM_024757.4(EHMT1):c.1869C>T (p.Asn623=) http://identifiers.org/clinvar/96146 ^@ NM_024757.4(EHMT1):c.2128G>A (p.Gly710Ser) http://identifiers.org/clinvar/96147 ^@ NM_024757.4(EHMT1):c.2186C>T (p.Ser729Leu) http://identifiers.org/clinvar/96148 ^@ NM_024757.4(EHMT1):c.2356G>C (p.Val786Leu) http://identifiers.org/clinvar/96149 ^@ NM_024757.4(EHMT1):c.2509G>A (p.Ala837Thr) http://identifiers.org/clinvar/96150 ^@ NM_024757.4(EHMT1):c.2705G>A (p.Arg902Gln) http://identifiers.org/clinvar/96151 ^@ NM_024757.4(EHMT1):c.3000C>T (p.Pro1000=) http://identifiers.org/clinvar/96152 ^@ NM_024757.4(EHMT1):c.3016G>A (p.Val1006Met) http://identifiers.org/clinvar/96153 ^@ NM_024757.4(EHMT1):c.3180+10G>T http://identifiers.org/clinvar/96154 ^@ NM_024757.4(EHMT1):c.3375-11_3375-10delCT http://identifiers.org/clinvar/96155 ^@ NM_024757.4(EHMT1):c.3375-9A>C http://identifiers.org/clinvar/96156 ^@ NM_024757.4(EHMT1):c.3401G>A (p.Arg1134Gln) http://identifiers.org/clinvar/96157 ^@ NM_024757.4(EHMT1):c.3541-11_3541-10dupTC http://identifiers.org/clinvar/96158 ^@ NM_024757.4(EHMT1):c.354T>G (p.Ser118=) http://identifiers.org/clinvar/96159 ^@ NM_024757.4(EHMT1):c.3555C>T (p.Tyr1185=) http://identifiers.org/clinvar/96160 ^@ NM_024757.4(EHMT1):c.3735C>T (p.Arg1245=) http://identifiers.org/clinvar/96161 ^@ NM_024757.4(EHMT1):c.3848A>C (p.Glu1283Ala) http://identifiers.org/clinvar/96162 ^@ NM_024757.4(EHMT1):c.432C>T (p.Ala144=) http://identifiers.org/clinvar/96163 ^@ NM_024757.4(EHMT1):c.529G>C (p.Ala177Pro) http://identifiers.org/clinvar/96164 ^@ NM_024757.4(EHMT1):c.565A>C (p.Arg189=) http://identifiers.org/clinvar/96165 ^@ NM_024757.4(EHMT1):c.566G>C (p.Arg189Thr) http://identifiers.org/clinvar/96166 ^@ NM_024757.4(EHMT1):c.575C>T (p.Pro192Leu) http://identifiers.org/clinvar/96167 ^@ NM_024887.3(DHDDS):c.912G>T (p.Ser304=) http://identifiers.org/clinvar/96168 ^@ NM_025114.3(CEP290):c.2055T>C (p.Ala685=) http://identifiers.org/clinvar/96169 ^@ NM_025114.3(CEP290):c.2068A>C (p.Asn690His) http://identifiers.org/clinvar/96170 ^@ NM_025114.3(CEP290):c.3574-9delT http://identifiers.org/clinvar/96171 ^@ NM_025114.3(CEP290):c.3605A>T (p.Lys1202Met) http://identifiers.org/clinvar/96172 ^@ NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) http://identifiers.org/clinvar/96173 ^@ NM_025132.3(WDR19):c.1430G>A (p.Arg477His) http://identifiers.org/clinvar/96174 ^@ NM_025132.3(WDR19):c.3400G>A (p.Ala1134Thr) http://identifiers.org/clinvar/96175 ^@ NM_025265.3(TSEN2):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/96176 ^@ NM_030665.3(RAI1):c.1044C>T (p.Arg348=) http://identifiers.org/clinvar/96177 ^@ NM_030665.3(RAI1):c.1142C>T (p.Ala381Val) http://identifiers.org/clinvar/96178 ^@ NM_030665.3(RAI1):c.139G>A (p.Ala47Thr) http://identifiers.org/clinvar/96179 ^@ NM_030665.3(RAI1):c.1992G>A (p.Pro664=) http://identifiers.org/clinvar/96180 ^@ NM_030665.3(RAI1):c.2004C>T (p.Pro668=) http://identifiers.org/clinvar/96181 ^@ NM_030665.3(RAI1):c.2074G>A (p.Val692Met) http://identifiers.org/clinvar/96182 ^@ NM_030665.3(RAI1):c.264G>A (p.Gln88=) http://identifiers.org/clinvar/96183 ^@ NM_030665.3(RAI1):c.269G>C (p.Gly90Ala) http://identifiers.org/clinvar/96184 ^@ NM_030665.3(RAI1):c.3208G>A (p.Gly1070Arg) http://identifiers.org/clinvar/96185 ^@ NM_030665.3(RAI1):c.3270C>G (p.Ala1090=) http://identifiers.org/clinvar/96186 ^@ NM_030665.3(RAI1):c.3357C>T (p.Ser1119=) http://identifiers.org/clinvar/96187 ^@ NM_030665.3(RAI1):c.3781_3783delGAG (p.Glu1261del) http://identifiers.org/clinvar/96188 ^@ NM_030665.3(RAI1):c.392C>A (p.Pro131Gln) http://identifiers.org/clinvar/96189 ^@ NM_030665.3(RAI1):c.412delG (p.Val138Trpfs) http://identifiers.org/clinvar/96190 ^@ NM_030665.3(RAI1):c.4311T>C (p.Pro1437=) http://identifiers.org/clinvar/96191 ^@ NM_030665.3(RAI1):c.4512G>T (p.Leu1504=) http://identifiers.org/clinvar/96192 ^@ NM_030665.3(RAI1):c.4530C>T (p.Pro1510=) http://identifiers.org/clinvar/96193 ^@ NM_030665.3(RAI1):c.4693G>A (p.Val1565Met) http://identifiers.org/clinvar/96194 ^@ NM_030665.3(RAI1):c.493C>A (p.Pro165Thr) http://identifiers.org/clinvar/96195 ^@ NM_030665.3(RAI1):c.5601T>C (p.Ile1867=) http://identifiers.org/clinvar/96196 ^@ NM_030665.3(RAI1):c.725C>T (p.Pro242Leu) http://identifiers.org/clinvar/96198 ^@ NM_030665.3(RAI1):c.837G>A (p.Gln279=) http://identifiers.org/clinvar/96199 ^@ NM_030665.3(RAI1):c.840G>A (p.Gln280=) http://identifiers.org/clinvar/96200 ^@ NM_030665.3(RAI1):c.852_872del21 (p.Gln285_Gln291del) http://identifiers.org/clinvar/96201 ^@ NM_030665.3(RAI1):c.972G>A (p.Pro324=) http://identifiers.org/clinvar/96202 ^@ NM_031220.3(PITPNM3):c.901-10G>C http://identifiers.org/clinvar/96203 ^@ NM_031407.6(HUWE1):c.12177T>C (p.Gly4059=) http://identifiers.org/clinvar/96204 ^@ NM_031407.6(HUWE1):c.12671C>T (p.Ala4224Val) http://identifiers.org/clinvar/96205 ^@ NM_031407.6(HUWE1):c.2198_2203delAGGAAG (p.Glu733_Glu734del) http://identifiers.org/clinvar/96206 ^@ NM_031885.3(BBS2):c.1413A>C (p.Val471=) http://identifiers.org/clinvar/96207 ^@ NM_031935.2(HMCN1):c.4586A>G (p.Asn1529Ser) http://identifiers.org/clinvar/96208 ^@ NM_031935.2(HMCN1):c.8678A>G (p.Glu2893Gly) http://identifiers.org/clinvar/96209 ^@ NM_031935.2(HMCN1):c.8764C>A (p.Leu2922Ile) http://identifiers.org/clinvar/96210 ^@ NM_031935.2(HMCN1):c.8815G>A (p.Gly2939Ser) http://identifiers.org/clinvar/96211 ^@ NM_032119.3(ADGRV1):c.15959A>T (p.Asp5320Val) http://identifiers.org/clinvar/96212 ^@ NM_032119.3(ADGRV1):c.4714A>G (p.Asn1572Asp) http://identifiers.org/clinvar/96213 ^@ NM_032121.5(MAGT1):c.1028T>G (p.Val343Gly) http://identifiers.org/clinvar/96214 ^@ NM_032121.5(MAGT1):c.112C>T (p.Arg38Trp) http://identifiers.org/clinvar/96215 ^@ NM_032121.5(MAGT1):c.45C>T (p.Thr15=) http://identifiers.org/clinvar/96216 ^@ NM_001201543.1(FAM161A):c.1153C>G (p.Gln385Glu) http://identifiers.org/clinvar/96217 ^@ NM_032180.2(FAM161A):c.1212T>C (p.Cys404=) http://identifiers.org/clinvar/96218 ^@ NM_001201543.1(FAM161A):c.503C>G (p.Ser168Cys) http://identifiers.org/clinvar/96219 ^@ NM_032382.4(COG8):c.1682C>T (p.Thr561Met) http://identifiers.org/clinvar/96220 ^@ NM_032382.4(COG8):c.42A>G (p.Thr14=) http://identifiers.org/clinvar/96221 ^@ NM_032458.2(PHF6):c.374+8T>C http://identifiers.org/clinvar/96222 ^@ NM_001015877.1(PHF6):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/96223 ^@ NM_032575.2(GLIS2):c.1311A>C (p.Ala437=) http://identifiers.org/clinvar/96224 ^@ NM_032575.2(GLIS2):c.864T>C (p.Tyr288=) http://identifiers.org/clinvar/96225 ^@ NM_032575.2(GLIS2):c.894C>T (p.Pro298=) http://identifiers.org/clinvar/96226 ^@ NM_032682.5(FOXP1):c.1147-19G>A http://identifiers.org/clinvar/96227 ^@ NM_032682.5(FOXP1):c.1670_1685dup16 (p.Ser562Argfs) http://identifiers.org/clinvar/96228 ^@ NM_032682.5(FOXP1):c.1889+20C>A http://identifiers.org/clinvar/96229 ^@ NM_032753.3(RAX2):c.155C>T (p.Pro52Leu) http://identifiers.org/clinvar/96230 ^@ NM_032753.3(RAX2):c.217-8C>T http://identifiers.org/clinvar/96231 ^@ NM_032753.3(RAX2):c.233G>A (p.Arg78His) http://identifiers.org/clinvar/96232 ^@ NM_032753.3(RAX2):c.344C>A (p.Ser115Ter) http://identifiers.org/clinvar/96233 ^@ NM_033028.4(BBS4):c.1548_1549delAA (p.Ile516Metfs) http://identifiers.org/clinvar/96234 ^@ NM_033056.3(PCDH15):c.3936A>G (p.Ala1312=) http://identifiers.org/clinvar/96235 ^@ NM_033056.3(PCDH15):c.949T>A (p.Ser317Thr) http://identifiers.org/clinvar/96236 ^@ NM_033087.3(ALG2):c.1100T>C (p.Val367Ala) http://identifiers.org/clinvar/96237 ^@ NM_033087.3(ALG2):c.31T>C (p.Ser11Pro) http://identifiers.org/clinvar/96238 ^@ NM_033087.3(ALG2):c.760T>C (p.Leu254=) http://identifiers.org/clinvar/96239 ^@ NM_033337.2(CAV3):c.109G>C (p.Val37Leu) http://identifiers.org/clinvar/96240 ^@ NM_033337.2(CAV3):c.443G>A (p.Arg148Gln) http://identifiers.org/clinvar/96241 ^@ NM_033629.4(TREX1):c.531T= (p.Tyr177=) http://identifiers.org/clinvar/96242 ^@ NM_033629.4(TREX1):c.797A>G (p.Glu266Gly) http://identifiers.org/clinvar/96243 ^@ NM_052845.3(MMAB):c.288T>C (p.Ile96=) http://identifiers.org/clinvar/96244 ^@ NM_052845.3(MMAB):c.568C>T (p.Arg190Cys) http://identifiers.org/clinvar/96245 ^@ NM_052845.3(MMAB):c.716T>A (p.Met239Lys) http://identifiers.org/clinvar/96246 ^@ NM_052859.3(RFT1):c.1623A>G (p.Thr541=) http://identifiers.org/clinvar/96247 ^@ NM_052859.3(RFT1):c.382C>T (p.Leu128Phe) http://identifiers.org/clinvar/96249 ^@ NM_000244.3(MEN1):c.1269C>T (p.Asp423=) http://identifiers.org/clinvar/96250 ^@ NM_130799.2(MEN1):c.1308G>T (p.Trp436Cys) http://identifiers.org/clinvar/96251 ^@ NM_000244.3(MEN1):c.1700dupA (p.Glu568Glyfs) http://identifiers.org/clinvar/96252 ^@ NM_130799.2(MEN1):c.435C>T (p.Ser145=) http://identifiers.org/clinvar/96253 ^@ NM_130799.2(MEN1):c.655-6C>T http://identifiers.org/clinvar/96254 ^@ NM_130799.2(MEN1):c.912+1G>A http://identifiers.org/clinvar/96255 ^@ NM_015560.2(OPA1):c.625-5528C>T http://identifiers.org/clinvar/96256 ^@ NM_130838.1(UBE3A):c.1209C>T (p.Asp403=) http://identifiers.org/clinvar/96257 ^@ NM_130838.1(UBE3A):c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs) http://identifiers.org/clinvar/96258 ^@ NM_130838.1(UBE3A):c.1713A>G (p.Glu571=) http://identifiers.org/clinvar/96259 ^@ NM_130838.1(UBE3A):c.1873T>C (p.Phe625Leu) http://identifiers.org/clinvar/96260 ^@ NM_130838.1(UBE3A):c.2064+9T>C http://identifiers.org/clinvar/96261 ^@ NM_130838.1(UBE3A):c.2503_2506delCTTA (p.Leu835Lysfs) http://identifiers.org/clinvar/96262 ^@ NM_130838.1(UBE3A):c.2558A>G (p.Ter853=) http://identifiers.org/clinvar/96263 ^@ NM_130838.1(UBE3A):c.313T>C (p.Leu105=) http://identifiers.org/clinvar/96264 ^@ NM_130838.1(UBE3A):c.417A>T (p.Ala139=) http://identifiers.org/clinvar/96265 ^@ NM_130838.1(UBE3A):c.532G>A (p.Ala178Thr) http://identifiers.org/clinvar/96266 ^@ NM_130838.1(UBE3A):c.888_890delAGC (p.Ala297del) http://identifiers.org/clinvar/96267 ^@ NM_001256850.1(TTN):c.13473G>C (p.Val4491=) http://identifiers.org/clinvar/96268 ^@ NM_133378.4(TTN):c.11453G>T (p.Ser3818Ile) http://identifiers.org/clinvar/96269 ^@ NM_133378.4(TTN):c.15749T>G (p.Leu5250Arg) http://identifiers.org/clinvar/96270 ^@ NM_133378.4(TTN):c.19884C>T (p.Asn6628=) http://identifiers.org/clinvar/96271 ^@ NM_133378.4(TTN):c.20407T>C (p.Leu6803=) http://identifiers.org/clinvar/96272 ^@ NM_133378.4(TTN):c.20534T>C (p.Val6845Ala) http://identifiers.org/clinvar/96273 ^@ NM_133378.4(TTN):c.22820G>A (p.Cys7607Tyr) http://identifiers.org/clinvar/96274 ^@ NM_133378.4(TTN):c.23030-34_23030-10dup25 http://identifiers.org/clinvar/96275 ^@ NM_133379.4(TTN):c.*265+33192T>C http://identifiers.org/clinvar/96276 ^@ NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) http://identifiers.org/clinvar/96277 ^@ NM_133378.4(TTN):c.25022-7A>T http://identifiers.org/clinvar/96278 ^@ NM_001256850.1(TTN):c.2765G>A (p.Arg922His) http://identifiers.org/clinvar/96279 ^@ NM_001267550.2(TTN):c.32011+10C>G http://identifiers.org/clinvar/96280 ^@ NM_133378.4(TTN):c.30199C>T (p.Leu10067Phe) http://identifiers.org/clinvar/96281 ^@ NM_133378.4(TTN):c.31346T>C (p.Ile10449Thr) http://identifiers.org/clinvar/96282 ^@ NM_001256850.1(TTN):c.34477G>T (p.Val11493Leu) http://identifiers.org/clinvar/96283 ^@ NM_133378.4(TTN):c.31928T>C (p.Val10643Ala) http://identifiers.org/clinvar/96284 ^@ NM_133378.4(TTN):c.32246-8A>G http://identifiers.org/clinvar/96285 ^@ NM_133378.4(TTN):c.32484A>G (p.Glu10828=) http://identifiers.org/clinvar/96286 ^@ NM_133378.4(TTN):c.32854+4T>C http://identifiers.org/clinvar/96287 ^@ NM_001256850.1(TTN):c.36997G>A (p.Val12333Ile) http://identifiers.org/clinvar/96288 ^@ NM_001256850.1(TTN):c.40130C>T (p.Ala13377Val) http://identifiers.org/clinvar/96289 ^@ NM_001256850.1(TTN):c.40197T>G (p.Ile13399Met) http://identifiers.org/clinvar/96290 ^@ NM_133378.4(TTN):c.38600+5G>A http://identifiers.org/clinvar/96291 ^@ NM_133378.4(TTN):c.39373G>A (p.Val13125Ile) http://identifiers.org/clinvar/96292 ^@ NM_133378.4(TTN):c.39538A>C (p.Asn13180His) http://identifiers.org/clinvar/96293 ^@ NM_133378.4(TTN):c.39690_39707del18 (p.Asp13231_Arg13236del) http://identifiers.org/clinvar/96294 ^@ NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) http://identifiers.org/clinvar/96295 ^@ NM_133378.4(TTN):c.48977G>A (p.Ser16326Asn) http://identifiers.org/clinvar/96296 ^@ NM_001256850.1(TTN):c.59839G>A (p.Gly19947Arg) http://identifiers.org/clinvar/96297 ^@ NM_133378.4(TTN):c.58216A>G (p.Met19406Val) http://identifiers.org/clinvar/96298 ^@ NM_133378.4(TTN):c.61120G>A (p.Glu20374Lys) http://identifiers.org/clinvar/96299 ^@ NM_001256850.1(TTN):c.65568C>T (p.Thr21856=) http://identifiers.org/clinvar/96300 ^@ NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) http://identifiers.org/clinvar/96301 ^@ NM_133378.4(TTN):c.63203G>A (p.Arg21068His) http://identifiers.org/clinvar/96302 ^@ NM_133378.4(TTN):c.64463G>A (p.Arg21488His) http://identifiers.org/clinvar/96303 ^@ NM_001256850.1(TTN):c.69673A>G (p.Thr23225Ala) http://identifiers.org/clinvar/96304 ^@ NM_133378.4(TTN):c.70910T>C (p.Val23637Ala) http://identifiers.org/clinvar/96305 ^@ NM_133378.4(TTN):c.72070C>T (p.Leu24024Phe) http://identifiers.org/clinvar/96306 ^@ NM_001256850.1(TTN):c.75340T>C (p.Phe25114Leu) http://identifiers.org/clinvar/96307 ^@ NM_001256850.1(TTN):c.76324T>C (p.Ser25442Pro) http://identifiers.org/clinvar/96308 ^@ NM_133378.4(TTN):c.76029C>T (p.Ser25343=) http://identifiers.org/clinvar/96309 ^@ NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) http://identifiers.org/clinvar/96310 ^@ NM_133378.4(TTN):c.78166C>T (p.Arg26056Cys) http://identifiers.org/clinvar/96311 ^@ NM_133378.4(TTN):c.79945C>T (p.Arg26649Cys) http://identifiers.org/clinvar/96312 ^@ NM_133379.4(TTN):c.*265+187761G>T http://identifiers.org/clinvar/96313 ^@ NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) http://identifiers.org/clinvar/96314 ^@ NM_133378.4(TTN):c.81682G>A (p.Val27228Met) http://identifiers.org/clinvar/96315 ^@ NM_001256850.1(TTN):c.89360G>A (p.Arg29787His) http://identifiers.org/clinvar/96316 ^@ NM_133378.4(TTN):c.87566T>C (p.Ile29189Thr) http://identifiers.org/clinvar/96317 ^@ NM_003319.4(TTN):c.68820C>T (p.Pro22940=) http://identifiers.org/clinvar/96318 ^@ NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) http://identifiers.org/clinvar/96319 ^@ NM_133378.4(TTN):c.88951G>T (p.Val29651Phe) http://identifiers.org/clinvar/96320 ^@ NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) http://identifiers.org/clinvar/96321 ^@ NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) http://identifiers.org/clinvar/96322 ^@ NM_133378.4(TTN):c.90146T>C (p.Val30049Ala) http://identifiers.org/clinvar/96323 ^@ NM_001256850.1(TTN):c.93903C>G (p.Asp31301Glu) http://identifiers.org/clinvar/96324 ^@ NM_001267550.2(TTN):c.100766-10T>C http://identifiers.org/clinvar/96325 ^@ NM_133378.4(TTN):c.9443G>A (p.Arg3148His) http://identifiers.org/clinvar/96326 ^@ NM_001256850.1(TTN):c.98442C>T (p.Arg32814=) http://identifiers.org/clinvar/96327 ^@ NM_001256850.1(TTN):c.98494G>A (p.Val32832Ile) http://identifiers.org/clinvar/96328 ^@ NM_133378.4(TTN):c.96877C>T (p.Arg32293Cys) http://identifiers.org/clinvar/96329 ^@ NM_003319.4(TTN):c.77954G>C (p.Arg25985Thr) http://identifiers.org/clinvar/96330 ^@ NM_133433.3(NIPBL):c.1495+8_1495+10delAAT http://identifiers.org/clinvar/96331 ^@ NM_133433.3(NIPBL):c.1985A>G (p.Lys662Arg) http://identifiers.org/clinvar/96332 ^@ NM_133433.3(NIPBL):c.198C>G (p.Val66=) http://identifiers.org/clinvar/96333 ^@ NM_015384.4(NIPBL):c.2021A>G (p.Asn674Ser) http://identifiers.org/clinvar/96334 ^@ NM_133433.3(NIPBL):c.2447G>A (p.Arg816His) http://identifiers.org/clinvar/96335 ^@ NM_133433.3(NIPBL):c.2469A>G (p.Lys823=) http://identifiers.org/clinvar/96336 ^@ NM_015384.4(NIPBL):c.2479_2480delAG (p.Arg827Glyfs) http://identifiers.org/clinvar/96337 ^@ NM_133433.3(NIPBL):c.2602C>T (p.Arg868Ter) http://identifiers.org/clinvar/96338 ^@ NM_015384.4(NIPBL):c.2626dupG (p.Asp876Glyfs) http://identifiers.org/clinvar/96339 ^@ NM_015384.4(NIPBL):c.3015A>G (p.Leu1005=) http://identifiers.org/clinvar/96340 ^@ NM_133433.3(NIPBL):c.3575-17A>G http://identifiers.org/clinvar/96341 ^@ NM_133433.3(NIPBL):c.4421+7A>G http://identifiers.org/clinvar/96342 ^@ NM_133433.3(NIPBL):c.4561-9T>A http://identifiers.org/clinvar/96343 ^@ NM_133433.3(NIPBL):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/96344 ^@ NM_015384.4(NIPBL):c.5440C>T (p.Arg1814Ter) http://identifiers.org/clinvar/96345 ^@ NM_015384.4(NIPBL):c.5786A>G (p.Lys1929Arg) http://identifiers.org/clinvar/96346 ^@ NM_133433.3(NIPBL):c.5863-12_5863-11delAT http://identifiers.org/clinvar/96347 ^@ NM_133433.3(NIPBL):c.5863-12_5863-11dupAT http://identifiers.org/clinvar/96348 ^@ NM_133433.3(NIPBL):c.5874C>T (p.Ser1958=) http://identifiers.org/clinvar/96349 ^@ NM_133433.3(NIPBL):c.6109-3T>C http://identifiers.org/clinvar/96350 ^@ NM_015384.4(NIPBL):c.6557A>G (p.Glu2186Gly) http://identifiers.org/clinvar/96351 ^@ NM_015384.4(NIPBL):c.7047T>G (p.Tyr2349Ter) http://identifiers.org/clinvar/96352 ^@ NM_133433.3(NIPBL):c.7219C>T (p.Arg2407Ter) http://identifiers.org/clinvar/96353 ^@ NM_015384.4(NIPBL):c.7602C>T (p.Ile2534=) http://identifiers.org/clinvar/96354 ^@ NM_133433.3(NIPBL):c.772-8A>G http://identifiers.org/clinvar/96355 ^@ NM_133433.3(NIPBL):c.8377C>T (p.Arg2793Ter) http://identifiers.org/clinvar/96356 ^@ NM_133497.3(KCNV2):c.1083A>G (p.Gln361=) http://identifiers.org/clinvar/96357 ^@ NM_133497.3(KCNV2):c.183C>G (p.Gly61=) http://identifiers.org/clinvar/96358 ^@ NM_133497.3(KCNV2):c.291C>T (p.Ser97=) http://identifiers.org/clinvar/96359 ^@ NM_133497.3(KCNV2):c.312T>C (p.Gly104=) http://identifiers.org/clinvar/96360 ^@ NM_133497.3(KCNV2):c.676G>A (p.Val226Ile) http://identifiers.org/clinvar/96361 ^@ NM_133497.3(KCNV2):c.759A>G (p.Pro253=) http://identifiers.org/clinvar/96362 ^@ NM_133497.3(KCNV2):c.795C>G (p.Ala265=) http://identifiers.org/clinvar/96363 ^@ NM_133499.2(SYN1):c.1107C>T (p.Ile369=) http://identifiers.org/clinvar/96364 ^@ NM_133499.2(SYN1):c.510T>C (p.Asn170=) http://identifiers.org/clinvar/96365 ^@ NM_138694.3(PKHD1):c.10031T>G (p.Leu3344Ter) http://identifiers.org/clinvar/96366 ^@ NM_138694.3(PKHD1):c.10521C>T (p.His3507=) http://identifiers.org/clinvar/96367 ^@ NM_138694.3(PKHD1):c.10585G>C (p.Glu3529Gln) http://identifiers.org/clinvar/96368 ^@ NM_138694.3(PKHD1):c.10909C>T (p.Arg3637Cys) http://identifiers.org/clinvar/96369 ^@ NM_138694.3(PKHD1):c.11174+11A>G http://identifiers.org/clinvar/96370 ^@ NM_138694.3(PKHD1):c.11509G>A (p.Val3837Ile) http://identifiers.org/clinvar/96371 ^@ NM_138694.3(PKHD1):c.11525G>T (p.Arg3842Leu) http://identifiers.org/clinvar/96372 ^@ NM_138694.3(PKHD1):c.11696A>G (p.Gln3899Arg) http://identifiers.org/clinvar/96373 ^@ NM_138694.3(PKHD1):c.11714T>A (p.Ile3905Asn) http://identifiers.org/clinvar/96374 ^@ NM_138694.3(PKHD1):c.1185T>C (p.Asp395=) http://identifiers.org/clinvar/96375 ^@ NM_138694.3(PKHD1):c.11878G>A (p.Val3960Ile) http://identifiers.org/clinvar/96376 ^@ NM_138694.3(PKHD1):c.12143A>G (p.Gln4048Arg) http://identifiers.org/clinvar/96377 ^@ NM_138694.3(PKHD1):c.1234-10T>A http://identifiers.org/clinvar/96378 ^@ NM_138694.3(PKHD1):c.1587T>C (p.Asn529=) http://identifiers.org/clinvar/96379 ^@ NM_138694.3(PKHD1):c.1602+1G>A http://identifiers.org/clinvar/96380 ^@ NM_138694.3(PKHD1):c.1694-1G>A http://identifiers.org/clinvar/96381 ^@ NM_138694.3(PKHD1):c.1736C>T (p.Thr579Met) http://identifiers.org/clinvar/96382 ^@ NM_138694.3(PKHD1):c.1964+17G>T http://identifiers.org/clinvar/96383 ^@ NM_138694.3(PKHD1):c.2027C>G (p.Pro676Arg) http://identifiers.org/clinvar/96384 ^@ NM_138694.3(PKHD1):c.2046A>C (p.Pro682=) http://identifiers.org/clinvar/96385 ^@ NM_138694.3(PKHD1):c.214C>T (p.Leu72=) http://identifiers.org/clinvar/96386 ^@ NM_138694.3(PKHD1):c.2278C>T (p.Arg760Cys) http://identifiers.org/clinvar/96387 ^@ NM_138694.3(PKHD1):c.2341C>T (p.Arg781Ter) http://identifiers.org/clinvar/96388 ^@ NM_138694.3(PKHD1):c.234C>T (p.Asp78=) http://identifiers.org/clinvar/96389 ^@ NM_138694.3(PKHD1):c.2407+1G>A http://identifiers.org/clinvar/96390 ^@ NM_138694.3(PKHD1):c.2452C>T (p.Gln818Ter) http://identifiers.org/clinvar/96391 ^@ NM_138694.3(PKHD1):c.2489A>G (p.Asn830Ser) http://identifiers.org/clinvar/96392 ^@ NM_138694.3(PKHD1):c.2827_2828delGA (p.Asp943Hisfs) http://identifiers.org/clinvar/96393 ^@ NM_138694.3(PKHD1):c.2961G>T (p.Leu987Phe) http://identifiers.org/clinvar/96394 ^@ NM_138694.3(PKHD1):c.3048T>C (p.Asn1016=) http://identifiers.org/clinvar/96395 ^@ NM_138694.3(PKHD1):c.3241C>T (p.Arg1081Cys) http://identifiers.org/clinvar/96396 ^@ NM_138694.3(PKHD1):c.3537T>C (p.Asn1179=) http://identifiers.org/clinvar/96397 ^@ NM_138694.3(PKHD1):c.353delG (p.Ser118Ilefs) http://identifiers.org/clinvar/96398 ^@ NM_138694.3(PKHD1):c.3761_3762delCCinsG (p.Ala1254Glyfs) http://identifiers.org/clinvar/96399 ^@ NM_138694.3(PKHD1):c.3785C>T (p.Ala1262Val) http://identifiers.org/clinvar/96400 ^@ NM_138694.3(PKHD1):c.391-1G>C http://identifiers.org/clinvar/96401 ^@ NM_138694.3(PKHD1):c.3984C>T (p.Val1328=) http://identifiers.org/clinvar/96402 ^@ NM_138694.3(PKHD1):c.4304G>C (p.Ser1435Thr) http://identifiers.org/clinvar/96403 ^@ NM_138694.3(PKHD1):c.4343A>G (p.Glu1448Gly) http://identifiers.org/clinvar/96404 ^@ NM_138694.3(PKHD1):c.4415delGinsTATTCCCC (p.Cys1472Leufs) http://identifiers.org/clinvar/96405 ^@ NM_138694.3(PKHD1):c.5236+14A>G http://identifiers.org/clinvar/96406 ^@ NM_138694.3(PKHD1):c.5236+1G>A http://identifiers.org/clinvar/96407 ^@ NM_138694.3(PKHD1):c.527+19T>C http://identifiers.org/clinvar/96408 ^@ NM_138694.3(PKHD1):c.5275G>C (p.Gly1759Arg) http://identifiers.org/clinvar/96409 ^@ NM_138694.3(PKHD1):c.528-18A>T http://identifiers.org/clinvar/96410 ^@ NM_138694.3(PKHD1):c.5608T>G (p.Leu1870Val) http://identifiers.org/clinvar/96411 ^@ NM_138694.3(PKHD1):c.5725C>T (p.Arg1909Trp) http://identifiers.org/clinvar/96412 ^@ NM_138694.3(PKHD1):c.5731C>T (p.Arg1911Cys) http://identifiers.org/clinvar/96413 ^@ NM_138694.3(PKHD1):c.5751G>A (p.Gln1917=) http://identifiers.org/clinvar/96414 ^@ NM_138694.3(PKHD1):c.5896C>T (p.Leu1966=) http://identifiers.org/clinvar/96415 ^@ NM_138694.3(PKHD1):c.6333-8_6333-7delTT http://identifiers.org/clinvar/96416 ^@ NM_138694.3(PKHD1):c.633G>A (p.Gly211=) http://identifiers.org/clinvar/96417 ^@ NM_138694.3(PKHD1):c.6808+5G>C http://identifiers.org/clinvar/96418 ^@ NM_138694.3(PKHD1):c.682A>G (p.Ser228Gly) http://identifiers.org/clinvar/96419 ^@ NM_138694.3(PKHD1):c.7280T>C (p.Ile2427Thr) http://identifiers.org/clinvar/96420 ^@ NM_138694.3(PKHD1):c.733C>T (p.Leu245=) http://identifiers.org/clinvar/96421 ^@ NM_138694.3(PKHD1):c.7587G>A (p.Gly2529=) http://identifiers.org/clinvar/96422 ^@ NM_138694.3(PKHD1):c.7734-4T>C http://identifiers.org/clinvar/96423 ^@ NM_138694.3(PKHD1):c.7764A>G (p.Leu2588=) http://identifiers.org/clinvar/96424 ^@ NM_138694.3(PKHD1):c.782T>C (p.Ile261Thr) http://identifiers.org/clinvar/96425 ^@ NM_138694.3(PKHD1):c.7912-5T>G http://identifiers.org/clinvar/96426 ^@ NM_138694.3(PKHD1):c.7921A>G (p.Thr2641Ala) http://identifiers.org/clinvar/96427 ^@ NM_138694.3(PKHD1):c.7942G>A (p.Gly2648Ser) http://identifiers.org/clinvar/96428 ^@ NM_138694.3(PKHD1):c.8246_8247delGGinsCC (p.Trp2749Ser) http://identifiers.org/clinvar/96429 ^@ NM_138694.3(PKHD1):c.8302+12T>A http://identifiers.org/clinvar/96430 ^@ NM_138694.3(PKHD1):c.8302+18A>G http://identifiers.org/clinvar/96431 ^@ NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) http://identifiers.org/clinvar/96432 ^@ NM_138694.3(PKHD1):c.8407T>C (p.Cys2803Arg) http://identifiers.org/clinvar/96433 ^@ NM_138694.3(PKHD1):c.8408G>A (p.Cys2803Tyr) http://identifiers.org/clinvar/96434 ^@ NM_138694.3(PKHD1):c.8425G>A (p.Gly2809Arg) http://identifiers.org/clinvar/96435 ^@ NM_138694.3(PKHD1):c.85G>T (p.Glu29Ter) http://identifiers.org/clinvar/96436 ^@ NM_138694.3(PKHD1):c.8606C>A (p.Thr2869Lys) http://identifiers.org/clinvar/96437 ^@ NM_138694.3(PKHD1):c.878C>T (p.Ala293Val) http://identifiers.org/clinvar/96438 ^@ NM_138694.3(PKHD1):c.8798-19A>C http://identifiers.org/clinvar/96439 ^@ NM_138694.3(PKHD1):c.8824C>T (p.Arg2942Ter) http://identifiers.org/clinvar/96440 ^@ NM_138694.3(PKHD1):c.9215C>T (p.Ala3072Val) http://identifiers.org/clinvar/96441 ^@ NM_138694.3(PKHD1):c.9237G>A (p.Ala3079=) http://identifiers.org/clinvar/96442 ^@ NM_138694.3(PKHD1):c.930delC (p.Thr311Leufs) http://identifiers.org/clinvar/96443 ^@ NM_138694.3(PKHD1):c.9492C>T (p.Ser3164=) http://identifiers.org/clinvar/96444 ^@ NM_138694.3(PKHD1):c.9689delA (p.Asp3230Valfs) http://identifiers.org/clinvar/96445 ^@ NM_138694.3(PKHD1):c.982C>T (p.Arg328Ter) http://identifiers.org/clinvar/96446 ^@ NM_139058.2(ARX):c.1025A>G (p.Glu342Gly) http://identifiers.org/clinvar/96447 ^@ NM_139058.2(ARX):c.1060G>A (p.Asp354Asn) http://identifiers.org/clinvar/96448 ^@ NM_139058.2(ARX):c.1151_1152delGC (p.Arg384Glnfs) http://identifiers.org/clinvar/96449 ^@ NM_139058.2(ARX):c.1272G>A (p.Pro424=) http://identifiers.org/clinvar/96451 ^@ NM_139058.2(ARX):c.1347C>T (p.Gly449=) http://identifiers.org/clinvar/96452 ^@ NM_139058.2(ARX):c.1515A>C (p.Thr505=) http://identifiers.org/clinvar/96453 ^@ NM_139058.2(ARX):c.1671G>A (p.Thr557=) http://identifiers.org/clinvar/96454 ^@ NM_139058.2(ARX):c.441_464del24 (p.Ala148_Ala155del) http://identifiers.org/clinvar/96455 ^@ NM_139058.2(ARX):c.441_464dup24 (p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/96456 ^@ NM_139058.2(ARX):c.453_458dupGGCCGC (p.Ala155_Trp156insAlaAla) http://identifiers.org/clinvar/96457 ^@ NM_139058.2(ARX):c.590G>A (p.Gly197Asp) http://identifiers.org/clinvar/96458 ^@ NM_139058.2(ARX):c.593T>C (p.Val198Ala) http://identifiers.org/clinvar/96459 ^@ NM_139058.2(ARX):c.597G>A (p.Thr199=) http://identifiers.org/clinvar/96460 ^@ NM_139058.2(ARX):c.600C>T (p.His200=) http://identifiers.org/clinvar/96461 ^@ NM_139058.2(ARX):c.661A>G (p.Thr221Ala) http://identifiers.org/clinvar/96462 ^@ NM_139058.2(ARX):c.803T>G (p.Val268Gly) http://identifiers.org/clinvar/96463 ^@ NM_139058.2(ARX):c.921C>T (p.Gly307=) http://identifiers.org/clinvar/96464 ^@ NM_139058.2(ARX):c.980_983delAACA (p.Lys327Argfs) http://identifiers.org/clinvar/96465 ^@ NM_139058.2(ARX):c.983A>G (p.Gln328Arg) http://identifiers.org/clinvar/96466 ^@ NM_144499.2(GNAT1):c.25_27delGAG (p.Glu9del) http://identifiers.org/clinvar/96467 ^@ NM_144997.5(FLCN):c.1060C>T (p.Gln354Ter) http://identifiers.org/clinvar/96468 ^@ NM_144997.5(FLCN):c.1062+6C>T http://identifiers.org/clinvar/96469 ^@ NM_144997.5(FLCN):c.1117C>T (p.Gln373Ter) http://identifiers.org/clinvar/96470 ^@ NM_144997.5(FLCN):c.1149C>T (p.Leu383=) http://identifiers.org/clinvar/96471 ^@ NM_144997.5(FLCN):c.1179delC (p.Met394Cysfs) http://identifiers.org/clinvar/96472 ^@ NM_144997.5(FLCN):c.1198G>T (p.Val400Phe) http://identifiers.org/clinvar/96473 ^@ NM_144997.5(FLCN):c.1203dupC (p.Ile402Hisfs) http://identifiers.org/clinvar/96474 ^@ NM_144997.5(FLCN):c.1233G>A (p.Glu411=) http://identifiers.org/clinvar/96475 ^@ NM_144997.5(FLCN):c.1305delT (p.Phe435Leufs) http://identifiers.org/clinvar/96476 ^@ NM_144997.5(FLCN):c.1433-2A>G http://identifiers.org/clinvar/96477 ^@ NM_144997.5(FLCN):c.1522_1524delAAG (p.Lys508del) http://identifiers.org/clinvar/96478 ^@ NM_144997.5(FLCN):c.1533G>A (p.Trp511Ter) http://identifiers.org/clinvar/96479 ^@ NM_144997.5(FLCN):c.1539-16_1539-12delTTTTG http://identifiers.org/clinvar/96480 ^@ NM_144997.5(FLCN):c.1597C>T (p.Gln533Ter) http://identifiers.org/clinvar/96481 ^@ NM_144997.5(FLCN):c.250-2A>G http://identifiers.org/clinvar/96482 ^@ NM_144997.5(FLCN):c.296delA (p.Asp99Valfs) http://identifiers.org/clinvar/96483 ^@ NM_144997.5(FLCN):c.319_320delGTinsCAC (p.Val107Hisfs) http://identifiers.org/clinvar/96484 ^@ NM_144997.5(FLCN):c.346C>T (p.Gln116Ter) http://identifiers.org/clinvar/96485 ^@ NM_144997.5(FLCN):c.397-13G>A http://identifiers.org/clinvar/96486 ^@ NM_144997.5(FLCN):c.397-14C>T http://identifiers.org/clinvar/96487 ^@ NM_144997.5(FLCN):c.50G>C (p.Arg17Pro) http://identifiers.org/clinvar/96488 ^@ NM_144997.5(FLCN):c.610_611delGCinsTA (p.Ala204Ter) http://identifiers.org/clinvar/96489 ^@ NM_144997.5(FLCN):c.726A>T (p.Thr242=) http://identifiers.org/clinvar/96490 ^@ NM_144997.5(FLCN):c.828_829dupTG (p.Ala277Valfs) http://identifiers.org/clinvar/96491 ^@ NM_144997.5(FLCN):c.83dupC (p.Leu29Thrfs) http://identifiers.org/clinvar/96492 ^@ NM_144997.5(FLCN):c.890_893delAAAG (p.Glu297Alafs) http://identifiers.org/clinvar/96493 ^@ NM_144997.5(FLCN):c.927_954dup28 (p.Gly319Serfs) http://identifiers.org/clinvar/96494 ^@ NM_145239.2(PRRT2):c.647C>T (p.Pro216Leu) http://identifiers.org/clinvar/96495 ^@ NM_145693.3(LPIN1):c.192+17C>T http://identifiers.org/clinvar/96496 ^@ NM_145693.3(LPIN1):c.2174G>A (p.Arg725His) http://identifiers.org/clinvar/96497 ^@ NM_145693.3(LPIN1):c.552C>T (p.Ile184=) http://identifiers.org/clinvar/96498 ^@ NM_152384.2(BBS5):c.584A>G (p.Asp195Gly) http://identifiers.org/clinvar/96499 ^@ NM_152384.2(BBS5):c.620G>A (p.Arg207His) http://identifiers.org/clinvar/96500 ^@ NM_152419.2(HGSNAT):c.1250+1G>A http://identifiers.org/clinvar/96501 ^@ NM_152419.2(HGSNAT):c.1377+20G>A http://identifiers.org/clinvar/96502 ^@ NM_152419.2(HGSNAT):c.1464+1G>A http://identifiers.org/clinvar/96503 ^@ NM_152419.2(HGSNAT):c.1749T>C (p.Tyr583=) http://identifiers.org/clinvar/96504 ^@ NM_152618.2(BBS12):c.116T>C (p.Ile39Thr) http://identifiers.org/clinvar/96505 ^@ NM_153026.2(PRICKLE1):c.114G>A (p.Pro38=) http://identifiers.org/clinvar/96506 ^@ NM_153026.2(PRICKLE1):c.1902T>C (p.Ser634=) http://identifiers.org/clinvar/96507 ^@ NM_153026.2(PRICKLE1):c.2304C>G (p.Ser768=) http://identifiers.org/clinvar/96508 ^@ NM_153240.4(NPHP3):c.1157A>G (p.Asn386Ser) http://identifiers.org/clinvar/96509 ^@ NM_153240.4(NPHP3):c.154G>A (p.Ala52Thr) http://identifiers.org/clinvar/96510 ^@ NM_153240.4(NPHP3):c.1986G>A (p.Arg662=) http://identifiers.org/clinvar/96511 ^@ NM_153240.4(NPHP3):c.2369T>C (p.Leu790Pro) http://identifiers.org/clinvar/96512 ^@ NM_153240.4(NPHP3):c.2571-7T>C http://identifiers.org/clinvar/96513 ^@ NM_153240.4(NPHP3):c.2610G>A (p.Pro870=) http://identifiers.org/clinvar/96514 ^@ NM_153240.4(NPHP3):c.2688T>C (p.Tyr896=) http://identifiers.org/clinvar/96515 ^@ NM_153240.4(NPHP3):c.3126-4delT http://identifiers.org/clinvar/96516 ^@ NM_153240.4(NPHP3):c.3373C>T (p.Arg1125Ter) http://identifiers.org/clinvar/96517 ^@ NM_153252.4(BRWD3):c.4377A>G (p.Leu1459=) http://identifiers.org/clinvar/96518 ^@ NM_153252.4(BRWD3):c.813+10G>C http://identifiers.org/clinvar/96519 ^@ NM_007130.3(ZNF41):c.1545A>G (p.Lys515=) http://identifiers.org/clinvar/96520 ^@ NM_153380.3(ZNF41):c.945T>G (p.Asp315Glu) http://identifiers.org/clinvar/96521 ^@ NM_153427.2(PITX2):c.653A>T (p.Tyr218Phe) http://identifiers.org/clinvar/96522 ^@ NM_153603.3(COG7):c.1814C>T (p.Thr605Met) http://identifiers.org/clinvar/96523 ^@ NM_153603.3(COG7):c.2103T>C (p.Pro701=) http://identifiers.org/clinvar/96524 ^@ NM_153603.3(COG7):c.850A>T (p.Ile284Phe) http://identifiers.org/clinvar/96525 ^@ NM_153638.3(PANK2):c.1413-14_1413-9dupTTCCCC http://identifiers.org/clinvar/96526 ^@ NM_153638.3(PANK2):c.377G>C (p.Gly126Ala) http://identifiers.org/clinvar/96527 ^@ NM_153638.3(PANK2):c.96C>T (p.Thr32=) http://identifiers.org/clinvar/96528 ^@ NM_153704.5(TMEM67):c.1066-3C>T http://identifiers.org/clinvar/96529 ^@ NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) http://identifiers.org/clinvar/96530 ^@ NM_170707.3(LMNA):c.1873A>C (p.Ser625Arg) http://identifiers.org/clinvar/96531 ^@ NM_170707.3(LMNA):c.1874G>C (p.Ser625Thr) http://identifiers.org/clinvar/96532 ^@ NM_172250.2(MMAA):c.1034delT (p.Phe345Serfs) http://identifiers.org/clinvar/96533 ^@ NM_172250.2(MMAA):c.1089G>C (p.Gln363His) http://identifiers.org/clinvar/96534 ^@ NM_172364.4(CACNA2D4):c.2921+7G>C http://identifiers.org/clinvar/96535 ^@ NM_172364.4(CACNA2D4):c.2987T>C (p.Phe996Ser) http://identifiers.org/clinvar/96536 ^@ NM_172364.4(CACNA2D4):c.3310-8G>A http://identifiers.org/clinvar/96537 ^@ NM_172364.4(CACNA2D4):c.76G>A (p.Ala26Thr) http://identifiers.org/clinvar/96538 ^@ NM_172364.4(CACNA2D4):c.793A>T (p.Thr265Ser) http://identifiers.org/clinvar/96539 ^@ NM_173201.3(ATP2A1):c.*1G>A http://identifiers.org/clinvar/96540 ^@ NM_173201.3(ATP2A1):c.1614G>A (p.Thr538=) http://identifiers.org/clinvar/96541 ^@ NM_173201.3(ATP2A1):c.1764+6delC http://identifiers.org/clinvar/96542 ^@ NM_173201.3(ATP2A1):c.2595delC (p.Asn866Thrfs) http://identifiers.org/clinvar/96543 ^@ NM_173201.3(ATP2A1):c.2774dupT (p.Met925Ilefs) http://identifiers.org/clinvar/96544 ^@ NM_173201.3(ATP2A1):c.663C>G (p.Gly221=) http://identifiers.org/clinvar/96545 ^@ NM_173201.3(ATP2A1):c.678T>C (p.Thr226=) http://identifiers.org/clinvar/96546 ^@ NM_173495.2(PTCHD1):c.858T>C (p.Cys286=) http://identifiers.org/clinvar/96547 ^@ NM_173495.2(PTCHD1):c.93G>A (p.Ala31=) http://identifiers.org/clinvar/96548 ^@ NM_173798.3(ZCCHC12):c.1088A>G (p.Glu363Gly) http://identifiers.org/clinvar/96550 ^@ NM_174912.3(FAAH2):c.1229-14A>T http://identifiers.org/clinvar/96551 ^@ NM_174912.3(FAAH2):c.1404T>C (p.Pro468=) http://identifiers.org/clinvar/96552 ^@ NM_178152.2(DCX):c.568A>G (p.Lys190Glu) http://identifiers.org/clinvar/96553 ^@ NM_178152.2(DCX):c.785A>G (p.Asp262Gly) http://identifiers.org/clinvar/96554 ^@ NM_178857.5(RP1L1):c.652G>T (p.Val218Leu) http://identifiers.org/clinvar/96555 ^@ NM_178857.5(RP1L1):c.899C>T (p.Ser300Leu) http://identifiers.org/clinvar/96556 ^@ NM_181426.1(CCDC39):c.641G>A (p.Arg214His) http://identifiers.org/clinvar/96557 ^@ NM_182760.3(SUMF1):c.*10A>G http://identifiers.org/clinvar/96558 ^@ NM_182760.3(SUMF1):c.*11A>T http://identifiers.org/clinvar/96559 ^@ NM_182760.3(SUMF1):c.1116T>C (p.Thr372=) http://identifiers.org/clinvar/96560 ^@ NM_182894.2(VSX2):c.371-6T>C http://identifiers.org/clinvar/96561 ^@ NM_000056.4(BCKDHB):c.*8+5G>A http://identifiers.org/clinvar/96562 ^@ NM_000056.4(BCKDHB):c.1006G>A (p.Gly336Ser) http://identifiers.org/clinvar/96563 ^@ NM_000056.4(BCKDHB):c.1016C>T (p.Ser339Leu) http://identifiers.org/clinvar/96564 ^@ NM_000056.4(BCKDHB):c.1046G>A (p.Cys349Tyr) http://identifiers.org/clinvar/96565 ^@ NM_000056.4(BCKDHB):c.1057C>G (p.Leu353Val) http://identifiers.org/clinvar/96566 ^@ NM_000056.4(BCKDHB):c.1063G>C (p.Ala355Pro) http://identifiers.org/clinvar/96567 ^@ NM_000056.4(BCKDHB):c.1077A>C (p.Arg359Ser) http://identifiers.org/clinvar/96568 ^@ NM_000056.4(BCKDHB):c.1087T>A (p.Tyr363Asn) http://identifiers.org/clinvar/96569 ^@ NM_000056.4(BCKDHB):c.1147T>G (p.Tyr383Asp) http://identifiers.org/clinvar/96570 ^@ NM_000056.4(BCKDHB):c.158A>C (p.His53Pro) http://identifiers.org/clinvar/96571 ^@ NM_000056.4(BCKDHB):c.196+5G>A http://identifiers.org/clinvar/96572 ^@ NM_183050.3(BCKDHB):c.197-11G>T http://identifiers.org/clinvar/96573 ^@ NM_000056.4(BCKDHB):c.197-25A>G http://identifiers.org/clinvar/96574 ^@ NM_000056.4(BCKDHB):c.197-30A>C http://identifiers.org/clinvar/96575 ^@ NM_000056.4(BCKDHB):c.269C>T (p.Thr90Ile) http://identifiers.org/clinvar/96576 ^@ NM_000056.4(BCKDHB):c.302G>A (p.Gly101Asp) http://identifiers.org/clinvar/96577 ^@ NM_000056.4(BCKDHB):c.331C>G (p.Arg111Gly) http://identifiers.org/clinvar/96578 ^@ NM_000056.4(BCKDHB):c.33_34delAC (p.Leu12Glnfs) http://identifiers.org/clinvar/96579 ^@ NM_183050.3(BCKDHB):c.342T>G (p.Tyr114Ter) http://identifiers.org/clinvar/96580 ^@ NM_000056.4(BCKDHB):c.344-1G>A http://identifiers.org/clinvar/96581 ^@ NM_183050.3(BCKDHB):c.344-24C>T http://identifiers.org/clinvar/96582 ^@ NM_000056.4(BCKDHB):c.365C>T (p.Thr122Ile) http://identifiers.org/clinvar/96583 ^@ NM_000056.4(BCKDHB):c.479T>G (p.Ile160Ser) http://identifiers.org/clinvar/96584 ^@ NM_000056.4(BCKDHB):c.488A>T (p.Glu163Val) http://identifiers.org/clinvar/96585 ^@ NM_000056.4(BCKDHB):c.493G>C (p.Ala165Pro) http://identifiers.org/clinvar/96586 ^@ NM_000056.4(BCKDHB):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/96587 ^@ NM_000056.4(BCKDHB):c.506A>G (p.Tyr169Cys) http://identifiers.org/clinvar/96588 ^@ NM_000056.4(BCKDHB):c.508C>A (p.Arg170Ser) http://identifiers.org/clinvar/96589 ^@ NM_000056.4(BCKDHB):c.508C>G (p.Arg170Gly) http://identifiers.org/clinvar/96590 ^@ NM_000056.4(BCKDHB):c.508C>T (p.Arg170Cys) http://identifiers.org/clinvar/96591 ^@ NM_183050.3(BCKDHB):c.509G>A (p.Arg170His) http://identifiers.org/clinvar/96592 ^@ NM_000056.4(BCKDHB):c.509G>C (p.Arg170Pro) http://identifiers.org/clinvar/96593 ^@ NM_000056.4(BCKDHB):c.526A>T (p.Asn176Tyr) http://identifiers.org/clinvar/96594 ^@ NM_000056.4(BCKDHB):c.529T>C (p.Cys177Arg) http://identifiers.org/clinvar/96595 ^@ NM_000056.4(BCKDHB):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/96596 ^@ NM_000056.4(BCKDHB):c.574G>A (p.Gly192Arg) http://identifiers.org/clinvar/96597 ^@ NM_000056.4(BCKDHB):c.587A>T (p.His196Leu) http://identifiers.org/clinvar/96598 ^@ NM_000056.4(BCKDHB):c.592_593delCA (p.Gln198Glufs) http://identifiers.org/clinvar/96599 ^@ NM_000056.4(BCKDHB):c.595_596delAG (p.Pro200Terfs) http://identifiers.org/clinvar/96600 ^@ NM_000056.4(BCKDHB):c.605C>T (p.Ala202Val) http://identifiers.org/clinvar/96601 ^@ NM_000056.4(BCKDHB):c.633+16T>C http://identifiers.org/clinvar/96602 ^@ NM_000056.4(BCKDHB):c.633+1G>A http://identifiers.org/clinvar/96603 ^@ NM_000056.4(BCKDHB):c.634-32T>C http://identifiers.org/clinvar/96604 ^@ NM_000056.4(BCKDHB):c.674T>C (p.Leu225Pro) http://identifiers.org/clinvar/96605 ^@ NM_000056.4(BCKDHB):c.727C>T (p.Leu243Phe) http://identifiers.org/clinvar/96606 ^@ NM_183050.3(BCKDHB):c.742+16A>G http://identifiers.org/clinvar/96607 ^@ NM_000056.4(BCKDHB):c.748G>T (p.Glu250Ter) http://identifiers.org/clinvar/96608 ^@ NM_000056.4(BCKDHB):c.752T>C (p.Val251Ala) http://identifiers.org/clinvar/96609 ^@ NM_183050.3(BCKDHB):c.799C>T (p.Gln267Ter) http://identifiers.org/clinvar/96610 ^@ NM_000056.4(BCKDHB):c.817A>C (p.Thr273Pro) http://identifiers.org/clinvar/96611 ^@ NM_183050.3(BCKDHB):c.840+2T>G http://identifiers.org/clinvar/96612 ^@ NM_000056.4(BCKDHB):c.840+33A>G http://identifiers.org/clinvar/96613 ^@ NM_000056.4(BCKDHB):c.841-73C>T http://identifiers.org/clinvar/96614 ^@ NM_000056.4(BCKDHB):c.845A>G (p.His282Arg) http://identifiers.org/clinvar/96615 ^@ NM_183050.3(BCKDHB):c.853C>T (p.Arg285Ter) http://identifiers.org/clinvar/96616 ^@ NM_000056.4(BCKDHB):c.884delT (p.Gly296Glufs) http://identifiers.org/clinvar/96617 ^@ NM_000056.4(BCKDHB):c.902T>G (p.Val301Gly) http://identifiers.org/clinvar/96618 ^@ NM_000056.4(BCKDHB):c.93_103delGGCGCGGGGCT (p.Ala32Phefs) http://identifiers.org/clinvar/96619 ^@ NM_183050.3(BCKDHB):c.951+48C>T http://identifiers.org/clinvar/96620 ^@ NM_000056.4(BCKDHB):c.952-1G>A http://identifiers.org/clinvar/96621 ^@ NM_183050.3(BCKDHB):c.970C>T (p.Arg324Ter) http://identifiers.org/clinvar/96622 ^@ NM_000056.4(BCKDHB):c.974T>G (p.Leu325Arg) http://identifiers.org/clinvar/96623 ^@ NM_194318.3(B3GLCT):c.1064+10C>T http://identifiers.org/clinvar/96624 ^@ NM_194318.3(B3GLCT):c.1108G>A (p.Glu370Lys) http://identifiers.org/clinvar/96625 ^@ NM_194318.3(B3GLCT):c.271-12T>C http://identifiers.org/clinvar/96626 ^@ NM_194318.3(B3GLCT):c.347+20C>G http://identifiers.org/clinvar/96627 ^@ NM_194318.3(B3GLCT):c.347+4C>T http://identifiers.org/clinvar/96628 ^@ NM_194318.3(B3GLCT):c.348T>C (p.His116=) http://identifiers.org/clinvar/96629 ^@ NM_194318.3(B3GLCT):c.672C>T (p.Tyr224=) http://identifiers.org/clinvar/96630 ^@ NM_194318.3(B3GLCT):c.733G>A (p.Val245Met) http://identifiers.org/clinvar/96631 ^@ NM_001099404.1(SCN5A):c.482+16G>C http://identifiers.org/clinvar/96632 ^@ NM_198270.3(NHS):c.1651C>T (p.Pro551Ser) http://identifiers.org/clinvar/96633 ^@ NM_198270.3(NHS):c.1902T>G (p.Pro634=) http://identifiers.org/clinvar/96634 ^@ NM_198270.3(NHS):c.211C>T (p.Pro71Ser) http://identifiers.org/clinvar/96635 ^@ NM_198270.3(NHS):c.216_218delGCC (p.Pro73del) http://identifiers.org/clinvar/96636 ^@ NM_198270.3(NHS):c.2267T>C (p.Phe756Ser) http://identifiers.org/clinvar/96637 ^@ NM_198270.3(NHS):c.2285G>A (p.Gly762Glu) http://identifiers.org/clinvar/96638 ^@ NM_198270.3(NHS):c.302_337dup36 (p.Ala112_Ala113insGluAlaAlaProAlaAlaGlyGluAlaSerSerAla) http://identifiers.org/clinvar/96639 ^@ NM_198270.3(NHS):c.3482C>T (p.Pro1161Leu) http://identifiers.org/clinvar/96640 ^@ NM_198270.3(NHS):c.3866G>T (p.Gly1289Val) http://identifiers.org/clinvar/96641 ^@ NM_198270.3(NHS):c.400delC (p.Arg134Valfs) http://identifiers.org/clinvar/96642 ^@ NM_198270.3(NHS):c.4365_4367dupTAG (p.Ser1459_Ala1460insSer) http://identifiers.org/clinvar/96643 ^@ NM_198270.3(NHS):c.513C>T (p.Leu171=) http://identifiers.org/clinvar/96644 ^@ NM_198270.3(NHS):c.566-10dupT http://identifiers.org/clinvar/96645 ^@ NM_198270.3(NHS):c.765C>G (p.Pro255=) http://identifiers.org/clinvar/96646 ^@ NM_198270.3(NHS):c.953G>A (p.Trp318Ter) http://identifiers.org/clinvar/96647 ^@ NM_198428.2(BBS9):c.1246G>A (p.Val416Met) http://identifiers.org/clinvar/96648 ^@ NM_198428.2(BBS9):c.771A>G (p.Ala257=) http://identifiers.org/clinvar/96649 ^@ NM_198525.2(KIF7):c.1102A>G (p.Thr368Ala) http://identifiers.org/clinvar/96650 ^@ NM_198525.2(KIF7):c.2719-28_2719-13dup16 http://identifiers.org/clinvar/96651 ^@ NM_198525.2(KIF7):c.2873G>T (p.Ser958Ile) http://identifiers.org/clinvar/96652 ^@ NM_198525.2(KIF7):c.2896-14G>A http://identifiers.org/clinvar/96653 ^@ NM_198525.2(KIF7):c.3013G>A (p.Gly1005Arg) http://identifiers.org/clinvar/96654 ^@ NM_198525.2(KIF7):c.3021C>T (p.Ile1007=) http://identifiers.org/clinvar/96655 ^@ NM_198525.2(KIF7):c.3048G>A (p.Ser1016=) http://identifiers.org/clinvar/96656 ^@ NM_198525.2(KIF7):c.516G>A (p.Glu172=) http://identifiers.org/clinvar/96657 ^@ NM_198525.2(KIF7):c.612C>T (p.His204=) http://identifiers.org/clinvar/96658 ^@ NM_201253.2(CRB1):c.3211C>T (p.Leu1071Phe) http://identifiers.org/clinvar/96659 ^@ NM_201253.2(CRB1):c.498_506delAATTGATGG (p.Ile167_Gly169del) http://identifiers.org/clinvar/96660 ^@ NM_201253.2(CRB1):c.71-12A>T http://identifiers.org/clinvar/96661 ^@ NM_005096.3(ZMYM3):c.1008G>A (p.Ser336=) http://identifiers.org/clinvar/96662 ^@ NM_005096.3(ZMYM3):c.4065C>T (p.Arg1355=) http://identifiers.org/clinvar/96663 ^@ NM_203473.2(PORCN):c.1078C>T (p.Arg360Trp) http://identifiers.org/clinvar/96664 ^@ NM_203473.2(PORCN):c.250delC (p.Leu84Serfs) http://identifiers.org/clinvar/96665 ^@ NM_206933.2(USH2A):c.12234_12235delGA (p.Asn4079Trpfs) http://identifiers.org/clinvar/96666 ^@ NM_206933.2(USH2A):c.6862G>T (p.Glu2288Ter) http://identifiers.org/clinvar/96667 ^@ NM_206933.2(USH2A):c.7915T>C (p.Ser2639Pro) http://identifiers.org/clinvar/96668 ^@ NM_206933.2(USH2A):c.8856C>T (p.Asp2952=) http://identifiers.org/clinvar/96669 ^@ NM_207346.2(TSEN54):c.1111G>A (p.Glu371Lys) http://identifiers.org/clinvar/96670 ^@ NM_207346.2(TSEN54):c.1122G>C (p.Arg374=) http://identifiers.org/clinvar/96671 ^@ NM_207346.2(TSEN54):c.114T>G (p.His38Gln) http://identifiers.org/clinvar/96672 ^@ NM_207346.2(TSEN54):c.1166A>C (p.Gln389Pro) http://identifiers.org/clinvar/96673 ^@ NM_207346.2(TSEN54):c.12G>T (p.Glu4Asp) http://identifiers.org/clinvar/96674 ^@ NM_207346.2(TSEN54):c.3_8dupGGAGCC (p.Pro7_Ala8insGluPro) http://identifiers.org/clinvar/96675 ^@ NM_207352.3(CYP4V2):c.169T>C (p.Tyr57His) http://identifiers.org/clinvar/96676 ^@ NM_207391.2(RGS9BP):c.286G>T (p.Ala96Ser) http://identifiers.org/clinvar/96677 ^@ NM_213599.2(ANO5):c.1029C>T (p.Asp343=) http://identifiers.org/clinvar/96678 ^@ NM_213599.2(ANO5):c.2236-13_2236-10delTTTT http://identifiers.org/clinvar/96679 ^@ NM_213599.2(ANO5):c.242A>G (p.Asp81Gly) http://identifiers.org/clinvar/96680 ^@ NM_213599.2(ANO5):c.2521-13A>G http://identifiers.org/clinvar/96681 ^@ NM_213599.2(ANO5):c.267T>C (p.Asp89=) http://identifiers.org/clinvar/96682 ^@ NM_213599.2(ANO5):c.303A>G (p.Arg101=) http://identifiers.org/clinvar/96683 ^@ NM_213599.2(ANO5):c.364-8T>A http://identifiers.org/clinvar/96684 ^@ NM_213599.2(ANO5):c.364-8delT http://identifiers.org/clinvar/96685 ^@ NM_213599.2(ANO5):c.41-1G>A http://identifiers.org/clinvar/96686 ^@ NM_213599.2(ANO5):c.879-18T>C http://identifiers.org/clinvar/96687 ^@ NM_213599.2(ANO5):c.966A>T (p.Leu322Phe) http://identifiers.org/clinvar/96688 ^@ NM_213599.2(ANO5):c.989dupT (p.Leu330Phefs) http://identifiers.org/clinvar/96689 ^@ NM_000146.3(FTL):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/96690 ^@ NM_000146.3(FTL):c.310G>T (p.Glu104Ter) http://identifiers.org/clinvar/96691 ^@ NM_000146.3(FTL):c.-164C>T http://identifiers.org/clinvar/96692 ^@ NM_003327.3(TNFRSF4):c.193C>T (p.Arg65Cys) http://identifiers.org/clinvar/96699 ^@ NM_000104.3(CYP1B1):c.1409G>A (p.Cys470Tyr) http://identifiers.org/clinvar/96700 ^@ NM_000104.3(CYP1B1):c.487C>T (p.Arg163Cys) http://identifiers.org/clinvar/96701 ^@ NM_000104.3(CYP1B1):c.625_626delTG (p.Cys209Phefs) http://identifiers.org/clinvar/96702 ^@ NM_024531.4(SLC52A2):c.851C>A (p.Ala284Asp) http://identifiers.org/clinvar/96703 ^@ NM_024531.4(SLC52A2):c.914A>G (p.Tyr305Cys) http://identifiers.org/clinvar/96704 ^@ NM_022068.3(PIEZO2):c.2404A>T (p.Ile802Phe) http://identifiers.org/clinvar/96708 ^@ NM_006516.2(SLC2A1):c.1372C>T (p.Arg458Trp) http://identifiers.org/clinvar/96709 ^@ NM_006516.2(SLC2A1):c.1232A>G (p.Asn411Ser) http://identifiers.org/clinvar/96710 ^@ NM_002700.2(POU4F3):c.977G>A (p.Arg326Lys) http://identifiers.org/clinvar/96711 ^@ NM_001966.3(EHHADH):c.7G>A (p.Glu3Lys) http://identifiers.org/clinvar/96713 ^@ NM_000042.2(APOH):c.112A>G (p.Lys38Glu) http://identifiers.org/clinvar/96720 ^@ NM_001743.5(CALM2):c.293A>G (p.Asn98Ser) http://identifiers.org/clinvar/96721 ^@ NM_001743.5(CALM2):c.293A>T (p.Asn98Ile) http://identifiers.org/clinvar/96722 ^@ NM_001743.5(CALM2):c.396T>G (p.Asp132Glu) http://identifiers.org/clinvar/96723 ^@ NM_001743.5(CALM2):c.400G>C (p.Asp134His) http://identifiers.org/clinvar/96724 ^@ NM_001743.5(CALM2):c.407A>C (p.Gln136Pro) http://identifiers.org/clinvar/96726 ^@ NM_007262.4(PARK7):c.399G>C (p.Met133Ile) http://identifiers.org/clinvar/96727 ^@ NM_018206.5(VPS35):c.1576C>T (p.Arg526Cys) http://identifiers.org/clinvar/96728 ^@ NM_032409.2(PINK1):c.644C>T (p.Pro215Leu) http://identifiers.org/clinvar/96729 ^@ NM_032409.2(PINK1):c.923T>A (p.Leu308Gln) http://identifiers.org/clinvar/96730 ^@ NM_198578.3(LRRK2):c.2352C>A (p.Ser784Arg) http://identifiers.org/clinvar/96731 ^@ NM_198578.3(LRRK2):c.7300A>G (p.Ile2434Val) http://identifiers.org/clinvar/96741 ^@ NM_175053.3(KRT74):c.821T>C (p.Phe274Ser) http://identifiers.org/clinvar/96742 ^@ NC_000011.10:g.2001815G>A http://identifiers.org/clinvar/96743 ^@ NR_131224.1(H19):n.249+135C>T http://identifiers.org/clinvar/96744 ^@ NR_131224.1(H19):n.-317_-297del http://identifiers.org/clinvar/96745 ^@ NR_131224.1(H19):n.249+510A>T http://identifiers.org/clinvar/96746 ^@ NR_131224.1(H19):n.249+1110G>T http://identifiers.org/clinvar/96747 ^@ NR_131224.1(H19):n.249+189G>T http://identifiers.org/clinvar/96748 ^@ NR_131224.1(H19):n.249+613T>A http://identifiers.org/clinvar/96758 ^@ NM_000059.3(BRCA2):c.-3A>G http://identifiers.org/clinvar/96759 ^@ NM_000059.3(BRCA2):c.10162A>G (p.Thr3388Ala) http://identifiers.org/clinvar/96760 ^@ NM_000059.3(BRCA2):c.10166C>T (p.Ser3389Phe) http://identifiers.org/clinvar/96761 ^@ NM_000059.3(BRCA2):c.1146A>T (p.Lys382Asn) http://identifiers.org/clinvar/96762 ^@ NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) http://identifiers.org/clinvar/96763 ^@ NM_000059.3(BRCA2):c.1421T>C (p.Leu474Pro) http://identifiers.org/clinvar/96764 ^@ NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys) http://identifiers.org/clinvar/96765 ^@ NM_000059.3(BRCA2):c.146A>T (p.Glu49Val) http://identifiers.org/clinvar/96766 ^@ NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) http://identifiers.org/clinvar/96767 ^@ NM_000059.3(BRCA2):c.165_167delCAA (p.Asn56del) http://identifiers.org/clinvar/96768 ^@ NM_000059.3(BRCA2):c.1709A>G (p.Asn570Ser) http://identifiers.org/clinvar/96769 ^@ NM_000059.3(BRCA2):c.1755G>T (p.Lys585Asn) http://identifiers.org/clinvar/96770 ^@ NM_000059.3(BRCA2):c.1777G>T (p.Ala593Ser) http://identifiers.org/clinvar/96771 ^@ NM_000059.3(BRCA2):c.1780A>C (p.Ile594Leu) http://identifiers.org/clinvar/96772 ^@ NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter) http://identifiers.org/clinvar/96773 ^@ NM_000059.3(BRCA2):c.1910-20C>A http://identifiers.org/clinvar/96774 ^@ NM_000059.3(BRCA2):c.2071G>A (p.Ala691Thr) http://identifiers.org/clinvar/96775 ^@ NM_000059.3(BRCA2):c.2086G>A (p.Glu696Lys) http://identifiers.org/clinvar/96776 ^@ NM_000059.3(BRCA2):c.2091dupA (p.Leu698Thrfs) http://identifiers.org/clinvar/96777 ^@ NM_000059.3(BRCA2):c.2098T>A (p.Leu700Ile) http://identifiers.org/clinvar/96778 ^@ NM_000059.3(BRCA2):c.2173A>G (p.Lys725Glu) http://identifiers.org/clinvar/96779 ^@ NM_000059.3(BRCA2):c.2185A>G (p.Ile729Val) http://identifiers.org/clinvar/96780 ^@ NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) http://identifiers.org/clinvar/96781 ^@ NM_000059.3(BRCA2):c.2398G>A (p.Gly800Ser) http://identifiers.org/clinvar/96782 ^@ NM_000059.3(BRCA2):c.2755G>A (p.Glu919Lys) http://identifiers.org/clinvar/96783 ^@ NM_000059.3(BRCA2):c.2789A>G (p.Tyr930Cys) http://identifiers.org/clinvar/96784 ^@ NM_000059.3(BRCA2):c.2840delT (p.Leu947Trpfs) http://identifiers.org/clinvar/96785 ^@ NM_000059.3(BRCA2):c.3167A>G (p.Gln1056Arg) http://identifiers.org/clinvar/96786 ^@ NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) http://identifiers.org/clinvar/96787 ^@ NM_000059.3(BRCA2):c.3194T>C (p.Ile1065Thr) http://identifiers.org/clinvar/96788 ^@ NM_000059.3(BRCA2):c.3226G>A (p.Val1076Ile) http://identifiers.org/clinvar/96789 ^@ NM_000059.3(BRCA2):c.3386dupA (p.Phe1130Valfs) http://identifiers.org/clinvar/96790 ^@ NM_000059.3(BRCA2):c.3434C>T (p.Pro1145Leu) http://identifiers.org/clinvar/96791 ^@ NM_000059.3(BRCA2):c.3477C>A (p.Cys1159Ter) http://identifiers.org/clinvar/96792 ^@ NM_000059.3(BRCA2):c.3479G>A (p.Arg1160Lys) http://identifiers.org/clinvar/96793 ^@ NM_000059.3(BRCA2):c.3517A>T (p.Ile1173Phe) http://identifiers.org/clinvar/96794 ^@ NM_000059.3(BRCA2):c.3551G>C (p.Gly1184Ala) http://identifiers.org/clinvar/96795 ^@ NM_000059.3(BRCA2):c.3578C>T (p.Ala1193Val) http://identifiers.org/clinvar/96797 ^@ NM_000059.3(BRCA2):c.3700C>A (p.Leu1234Met) http://identifiers.org/clinvar/96798 ^@ NM_000059.3(BRCA2):c.3779delT (p.Leu1260Tyrfs) http://identifiers.org/clinvar/96800 ^@ NM_000059.3(BRCA2):c.3925A>G (p.Ile1309Val) http://identifiers.org/clinvar/96801 ^@ NM_000059.3(BRCA2):c.3939C>G (p.Tyr1313Ter) http://identifiers.org/clinvar/96802 ^@ NM_000059.3(BRCA2):c.4085delA (p.His1362Profs) http://identifiers.org/clinvar/96803 ^@ NM_000059.3(BRCA2):c.4157A>T (p.Asp1386Val) http://identifiers.org/clinvar/96804 ^@ NM_000059.3(BRCA2):c.4159T>A (p.Leu1387Ile) http://identifiers.org/clinvar/96805 ^@ NM_000059.3(BRCA2):c.4183G>T (p.Ala1395Ser) http://identifiers.org/clinvar/96806 ^@ NM_000059.3(BRCA2):c.4354C>G (p.Gln1452Glu) http://identifiers.org/clinvar/96807 ^@ NM_000059.3(BRCA2):c.4423A>G (p.Met1475Val) http://identifiers.org/clinvar/96808 ^@ NM_000059.3(BRCA2):c.4519delC (p.Gln1507Argfs) http://identifiers.org/clinvar/96809 ^@ NM_000059.3(BRCA2):c.4713G>C (p.Glu1571Asp) http://identifiers.org/clinvar/96810 ^@ NM_000059.3(BRCA2):c.4747A>T (p.Ile1583Phe) http://identifiers.org/clinvar/96811 ^@ NM_000059.3(BRCA2):c.4936_4937delGA (p.Glu1646Asnfs) http://identifiers.org/clinvar/96812 ^@ NM_000059.3(BRCA2):c.4975T>G (p.Ser1659Ala) http://identifiers.org/clinvar/96813 ^@ NM_000059.3(BRCA2):c.4976_4977insG (p.Tyr1661Leufs) http://identifiers.org/clinvar/96814 ^@ NM_000059.3(BRCA2):c.5028_5030delTAG (p.Ser1676del) http://identifiers.org/clinvar/96815 ^@ NM_000059.3(BRCA2):c.5030G>A (p.Arg1677Lys) http://identifiers.org/clinvar/96816 ^@ NM_000059.3(BRCA2):c.515A>G (p.Lys172Arg) http://identifiers.org/clinvar/96817 ^@ NM_000059.3(BRCA2):c.5170A>G (p.Ile1724Val) http://identifiers.org/clinvar/96818 ^@ NM_000059.3(BRCA2):c.5239A>G (p.Asn1747Asp) http://identifiers.org/clinvar/96819 ^@ NM_000059.3(BRCA2):c.5335G>A (p.Val1779Ile) http://identifiers.org/clinvar/96820 ^@ NM_000059.3(BRCA2):c.5378delA (p.Asn1793Metfs) http://identifiers.org/clinvar/96821 ^@ NM_000059.3(BRCA2):c.5467A>G (p.Lys1823Glu) http://identifiers.org/clinvar/96822 ^@ NM_000059.3(BRCA2):c.554G>T (p.Gly185Val) http://identifiers.org/clinvar/96823 ^@ NM_000059.3(BRCA2):c.5578A>T (p.Lys1860Ter) http://identifiers.org/clinvar/96824 ^@ NM_000059.3(BRCA2):c.5707A>C (p.Ile1903Leu) http://identifiers.org/clinvar/96825 ^@ NM_000059.3(BRCA2):c.5714A>T (p.His1905Leu) http://identifiers.org/clinvar/96826 ^@ NM_000059.3(BRCA2):c.5729A>T (p.Asn1910Ile) http://identifiers.org/clinvar/96827 ^@ NM_000059.3(BRCA2):c.5737T>G (p.Cys1913Gly) http://identifiers.org/clinvar/96828 ^@ NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) http://identifiers.org/clinvar/96829 ^@ NM_000059.3(BRCA2):c.5784A>C (p.Glu1928Asp) http://identifiers.org/clinvar/96830 ^@ NM_000059.3(BRCA2):c.5846A>G (p.Asp1949Gly) http://identifiers.org/clinvar/96831 ^@ NM_000059.3(BRCA2):c.5855T>G (p.Leu1952Trp) http://identifiers.org/clinvar/96832 ^@ NM_000059.3(BRCA2):c.6080G>A (p.Arg2027Lys) http://identifiers.org/clinvar/96833 ^@ NM_000059.3(BRCA2):c.6118A>G (p.Ile2040Val) http://identifiers.org/clinvar/96834 ^@ NM_000059.3(BRCA2):c.6211delA (p.Ser2071Valfs) http://identifiers.org/clinvar/96835 ^@ NM_000059.3(BRCA2):c.631+7A>G http://identifiers.org/clinvar/96836 ^@ NM_000059.3(BRCA2):c.632-10delT http://identifiers.org/clinvar/96837 ^@ NM_000059.3(BRCA2):c.632-3_632-2delCA http://identifiers.org/clinvar/96838 ^@ NM_000059.3(BRCA2):c.6397dupT (p.Ser2133Phefs) http://identifiers.org/clinvar/96839 ^@ NM_000059.3(BRCA2):c.6602delC (p.Ser2201Leufs) http://identifiers.org/clinvar/96840 ^@ NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr) http://identifiers.org/clinvar/96841 ^@ NM_000059.3(BRCA2):c.6679G>A (p.Ala2227Thr) http://identifiers.org/clinvar/96842 ^@ NM_000059.3(BRCA2):c.6837A>T (p.Leu2279Phe) http://identifiers.org/clinvar/96843 ^@ NM_000059.3(BRCA2):c.6842-86_6842-85ins70 http://identifiers.org/clinvar/96844 ^@ NM_000059.3(BRCA2):c.6959T>A (p.Leu2320Ter) http://identifiers.org/clinvar/96845 ^@ NM_000059.3(BRCA2):c.7006C>T (p.Arg2336Cys) http://identifiers.org/clinvar/96846 ^@ NM_000059.3(BRCA2):c.7009A>G (p.Thr2337Ala) http://identifiers.org/clinvar/96847 ^@ NM_000059.3(BRCA2):c.7073C>G (p.Ser2358Cys) http://identifiers.org/clinvar/96848 ^@ NM_000059.3(BRCA2):c.715delA (p.Ser239Valfs) http://identifiers.org/clinvar/96849 ^@ NM_000059.3(BRCA2):c.7178T>C (p.Met2393Thr) http://identifiers.org/clinvar/96850 ^@ NM_000059.3(BRCA2):c.7331A>G (p.Asp2444Gly) http://identifiers.org/clinvar/96851 ^@ NM_000059.3(BRCA2):c.7343A>G (p.Lys2448Arg) http://identifiers.org/clinvar/96852 ^@ NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) http://identifiers.org/clinvar/96853 ^@ NM_000059.3(BRCA2):c.7559G>A (p.Arg2520Gln) http://identifiers.org/clinvar/96854 ^@ NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) http://identifiers.org/clinvar/96855 ^@ NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys) http://identifiers.org/clinvar/96857 ^@ NM_000059.3(BRCA2):c.7691C>T (p.Thr2564Ile) http://identifiers.org/clinvar/96858 ^@ NM_000059.3(BRCA2):c.777A>G (p.Arg259=) http://identifiers.org/clinvar/96859 ^@ NM_000059.3(BRCA2):c.7811T>C (p.Leu2604Pro) http://identifiers.org/clinvar/96860 ^@ NM_000059.3(BRCA2):c.7871A>G (p.Tyr2624Cys) http://identifiers.org/clinvar/96861 ^@ NM_000059.3(BRCA2):c.7897G>T (p.Ala2633Ser) http://identifiers.org/clinvar/96862 ^@ NM_000059.3(BRCA2):c.7930A>G (p.Asn2644Asp) http://identifiers.org/clinvar/96863 ^@ NM_000059.3(BRCA2):c.7977-15T>G http://identifiers.org/clinvar/96864 ^@ NM_000059.3(BRCA2):c.7985C>A (p.Thr2662Lys) http://identifiers.org/clinvar/96865 ^@ NM_000059.3(BRCA2):c.8282C>G (p.Ser2761Cys) http://identifiers.org/clinvar/96866 ^@ NM_000059.3(BRCA2):c.836G>T (p.Cys279Phe) http://identifiers.org/clinvar/96867 ^@ NM_000059.3(BRCA2):c.8463delT (p.Ile2822Phefs) http://identifiers.org/clinvar/96868 ^@ NM_000059.3(BRCA2):c.8471G>C (p.Arg2824Thr) http://identifiers.org/clinvar/96869 ^@ NM_000059.3(BRCA2):c.8487+10A>G http://identifiers.org/clinvar/96870 ^@ NM_000059.3(BRCA2):c.8632+1G>T http://identifiers.org/clinvar/96871 ^@ NM_000059.3(BRCA2):c.8714A>G (p.Tyr2905Cys) http://identifiers.org/clinvar/96872 ^@ NM_000059.3(BRCA2):c.8746T>A (p.Tyr2916Asn) http://identifiers.org/clinvar/96873 ^@ NM_000059.3(BRCA2):c.8755-17A>G http://identifiers.org/clinvar/96874 ^@ NM_000059.3(BRCA2):c.8837T>A (p.Leu2946Ter) http://identifiers.org/clinvar/96875 ^@ NM_000059.3(BRCA2):c.8957T>C (p.Ile2986Thr) http://identifiers.org/clinvar/96876 ^@ NM_000059.3(BRCA2):c.8975_9100del126 (p.Pro2992_Thr3033del) http://identifiers.org/clinvar/96877 ^@ NM_000059.3(BRCA2):c.9052A>G (p.Ser3018Gly) http://identifiers.org/clinvar/96878 ^@ NM_000059.3(BRCA2):c.905C>A (p.Thr302Asn) http://identifiers.org/clinvar/96879 ^@ NM_000059.3(BRCA2):c.9098C>T (p.Thr3033Ile) http://identifiers.org/clinvar/96880 ^@ NM_000059.3(BRCA2):c.9256+10A>G http://identifiers.org/clinvar/96881 ^@ NM_000059.3(BRCA2):c.9256+1G>C http://identifiers.org/clinvar/96882 ^@ NM_000059.3(BRCA2):c.9458G>T (p.Gly3153Val) http://identifiers.org/clinvar/96883 ^@ NM_000059.3(BRCA2):c.9547A>G (p.Ile3183Val) http://identifiers.org/clinvar/96884 ^@ NM_000059.3(BRCA2):c.9584C>T (p.Thr3195Ile) http://identifiers.org/clinvar/96885 ^@ NM_000059.3(BRCA2):c.9647T>C (p.Leu3216Pro) http://identifiers.org/clinvar/96886 ^@ NM_000059.3(BRCA2):c.9649-6delT http://identifiers.org/clinvar/96887 ^@ NM_000059.3(BRCA2):c.9651G>A (p.Met3217Ile) http://identifiers.org/clinvar/96888 ^@ NM_000059.3(BRCA2):c.9670A>G (p.Ile3224Val) http://identifiers.org/clinvar/96889 ^@ NM_000059.3(BRCA2):c.9821T>G (p.Leu3274Trp) http://identifiers.org/clinvar/96890 ^@ NM_000059.3(BRCA2):c.9945delA (p.Glu3316Asnfs) http://identifiers.org/clinvar/96891 ^@ NM_007294.3(BRCA1):c.*102_*105delCTGT http://identifiers.org/clinvar/96892 ^@ NM_007294.3(BRCA1):c.-13G>A http://identifiers.org/clinvar/96893 ^@ NM_007294.3(BRCA1):c.1001C>A (p.Pro334His) http://identifiers.org/clinvar/96894 ^@ NM_007294.3(BRCA1):c.1015A>G (p.Lys339Glu) http://identifiers.org/clinvar/96895 ^@ NM_007294.3(BRCA1):c.1148_1149delAT (p.Asn383Argfs) http://identifiers.org/clinvar/96896 ^@ NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter) http://identifiers.org/clinvar/96897 ^@ NM_007294.3(BRCA1):c.1298_1299ins4 http://identifiers.org/clinvar/96898 ^@ NM_007294.3(BRCA1):c.130dupT (p.Cys44Leufs) http://identifiers.org/clinvar/96899 ^@ NM_007294.3(BRCA1):c.134+5G>T http://identifiers.org/clinvar/96900 ^@ NM_007294.3(BRCA1):c.1434delT (p.Glu479Lysfs) http://identifiers.org/clinvar/96902 ^@ NM_007294.3(BRCA1):c.1579_1580delAA (p.Lys527Aspfs) http://identifiers.org/clinvar/96903 ^@ NM_007294.3(BRCA1):c.2001dupA (p.Leu668Thrfs) http://identifiers.org/clinvar/96904 ^@ NM_007294.3(BRCA1):c.2081G>A (p.Ser694Asn) http://identifiers.org/clinvar/96905 ^@ NM_007294.3(BRCA1):c.2101_2102delAA (p.Lys701Valfs) http://identifiers.org/clinvar/96907 ^@ NM_007294.3(BRCA1):c.2648C>T (p.Ala883Val) http://identifiers.org/clinvar/96908 ^@ NM_007294.3(BRCA1):c.2732G>A (p.Gly911Glu) http://identifiers.org/clinvar/96909 ^@ NM_007294.3(BRCA1):c.290C>G (p.Thr97Arg) http://identifiers.org/clinvar/96910 ^@ NM_007294.3(BRCA1):c.2910A>C (p.Lys970Asn) http://identifiers.org/clinvar/96911 ^@ NM_007294.3(BRCA1):c.3406C>A (p.Pro1136Thr) http://identifiers.org/clinvar/96912 ^@ NM_007294.3(BRCA1):c.3433G>T (p.Val1145Phe) http://identifiers.org/clinvar/96913 ^@ NM_007294.3(BRCA1):c.3437G>A (p.Cys1146Tyr) http://identifiers.org/clinvar/96914 ^@ NM_007294.3(BRCA1):c.368delC (p.Ser123Leufs) http://identifiers.org/clinvar/96915 ^@ NM_007294.3(BRCA1):c.3759delT (p.Lys1254Argfs) http://identifiers.org/clinvar/96916 ^@ NM_007294.3(BRCA1):c.3774G>T (p.Glu1258Asp) http://identifiers.org/clinvar/96917 ^@ NM_007294.3(BRCA1):c.3818A>G (p.Gln1273Arg) http://identifiers.org/clinvar/96918 ^@ NM_007294.3(BRCA1):c.3869A>C (p.Lys1290Thr) http://identifiers.org/clinvar/96919 ^@ NM_007294.3(BRCA1):c.389A>G (p.Tyr130Cys) http://identifiers.org/clinvar/96920 ^@ NM_007294.3(BRCA1):c.3914A>T (p.Asp1305Val) http://identifiers.org/clinvar/96921 ^@ NM_007294.3(BRCA1):c.3944C>G (p.Pro1315Arg) http://identifiers.org/clinvar/96922 ^@ NM_007294.3(BRCA1):c.3955G>A (p.Gly1319Ser) http://identifiers.org/clinvar/96923 ^@ NM_007294.3(BRCA1):c.4038_4041delAAGA (p.Arg1347Glufs) http://identifiers.org/clinvar/96924 ^@ NM_007294.3(BRCA1):c.4072G>T (p.Glu1358Ter) http://identifiers.org/clinvar/96925 ^@ NM_007294.3(BRCA1):c.4096G>A (p.Gly1366Ser) http://identifiers.org/clinvar/96927 ^@ NM_007294.3(BRCA1):c.4185+10G>A http://identifiers.org/clinvar/96928 ^@ NM_007294.3(BRCA1):c.4185+2T>A http://identifiers.org/clinvar/96929 ^@ NM_007294.3(BRCA1):c.4185+9C>T http://identifiers.org/clinvar/96930 ^@ NM_007294.3(BRCA1):c.4348dupT (p.Ser1450Phefs) http://identifiers.org/clinvar/96931 ^@ NM_007294.3(BRCA1):c.4357+7A>G http://identifiers.org/clinvar/96932 ^@ NM_007294.3(BRCA1):c.4383T>A (p.Ser1461Arg) http://identifiers.org/clinvar/96933 ^@ NM_007294.3(BRCA1):c.4450_4451ins4 http://identifiers.org/clinvar/96934 ^@ NM_007294.3(BRCA1):c.457A>G (p.Ser153Gly) http://identifiers.org/clinvar/96935 ^@ NM_007294.3(BRCA1):c.4587_4590delTAAG (p.Ile1529Metfs) http://identifiers.org/clinvar/96936 ^@ NM_007294.3(BRCA1):c.4986+5G>A http://identifiers.org/clinvar/96938 ^@ NM_007294.3(BRCA1):c.5074+5A>T http://identifiers.org/clinvar/96940 ^@ NM_007294.3(BRCA1):c.5152+7A>G http://identifiers.org/clinvar/96941 ^@ NM_007294.3(BRCA1):c.5153-6C>A http://identifiers.org/clinvar/96942 ^@ NM_007294.3(BRCA1):c.5193+1G>A http://identifiers.org/clinvar/96943 ^@ NM_007294.3(BRCA1):c.5205A>T (p.Glu1735Asp) http://identifiers.org/clinvar/96944 ^@ NM_007294.3(BRCA1):c.5254G>A (p.Ala1752Thr) http://identifiers.org/clinvar/96946 ^@ NM_007294.3(BRCA1):c.5268_5269insC (p.Asp1757Argfs) http://identifiers.org/clinvar/96947 ^@ NM_007294.3(BRCA1):c.5276A>G (p.Lys1759Arg) http://identifiers.org/clinvar/96948 ^@ NM_007294.3(BRCA1):c.5302T>G (p.Cys1768Gly) http://identifiers.org/clinvar/96949 ^@ NM_007294.3(BRCA1):c.5339T>G (p.Leu1780Arg) http://identifiers.org/clinvar/96950 ^@ NM_007294.3(BRCA1):c.5407-10G>A http://identifiers.org/clinvar/96951 ^@ NM_007294.3(BRCA1):c.5467+3A>C http://identifiers.org/clinvar/96952 ^@ NM_007294.3(BRCA1):c.5479_5480insGA (p.Met1827Argfs) http://identifiers.org/clinvar/96953 ^@ NM_007294.3(BRCA1):c.659C>G (p.Ser220Cys) http://identifiers.org/clinvar/96954 ^@ NM_007294.3(BRCA1):c.670G>A (p.Ala224Thr) http://identifiers.org/clinvar/96955 ^@ NM_007294.3(BRCA1):c.671-12delG http://identifiers.org/clinvar/96957 ^@ NM_007294.3(BRCA1):c.998C>T (p.Thr333Ile) http://identifiers.org/clinvar/96958 ^@ NP_000050.2(BRCA2):p.Asn1836Lys http://identifiers.org/clinvar/96959 ^@ NP_000050.2(BRCA2):p.Asn1878Lys http://identifiers.org/clinvar/96960 ^@ NP_000050.2(BRCA2):p.Asp1618Glu http://identifiers.org/clinvar/96961 ^@ NP_000050.2(BRCA2):p.Glu1593Asp http://identifiers.org/clinvar/96962 ^@ NP_000050.2(BRCA2):p.Gly2793Arg http://identifiers.org/clinvar/96963 ^@ NP_000050.2(BRCA2):p.Lys2077Asn http://identifiers.org/clinvar/96964 ^@ NP_000050.2(BRCA2):p.Phe1241Leu http://identifiers.org/clinvar/96965 ^@ NP_000050.2(BRCA2):p.Ser2091Arg http://identifiers.org/clinvar/96966 ^@ NP_000050.2(BRCA2):p.Ser3200Ter http://identifiers.org/clinvar/96967 ^@ NP_000050.2(BRCA2):p.Ser326Arg http://identifiers.org/clinvar/96968 ^@ NP_009225.1(BRCA1):p.Leu1086Ter http://identifiers.org/clinvar/96969 ^@ NP_009225.1(BRCA1):p.Leu63Ter http://identifiers.org/clinvar/96970 ^@ NP_009225.1(BRCA1):p.Met1008Ile http://identifiers.org/clinvar/96971 ^@ NP_009225.1:p.Ser1007Ter http://identifiers.org/clinvar/96972 ^@ NP_009225.1(BRCA1):p.Ser713Ter http://identifiers.org/clinvar/96973 ^@ NP_009225.1(BRCA1):p.Trp1712Ter http://identifiers.org/clinvar/96976 ^@ NM_182680.1(AMELX):c.171G>C (p.Gln57His) http://identifiers.org/clinvar/96977 ^@ NM_182680.1(AMELX):c.173G>A (p.Ser58Asn) http://identifiers.org/clinvar/96978 ^@ NM_182680.1(AMELX):c.174C>A (p.Ser58Arg) http://identifiers.org/clinvar/96979 ^@ NM_198488.3(FAM83H):c.2250C>T (p.Gly750=) http://identifiers.org/clinvar/96980 ^@ NM_198488.3(FAM83H):c.2765G>T (p.Arg922Leu) http://identifiers.org/clinvar/96981 ^@ NM_198488.3(FAM83H):c.2766C>T (p.Arg922=) http://identifiers.org/clinvar/96982 ^@ NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) http://identifiers.org/clinvar/96983 ^@ NM_001036.4(RYR3):c.4529T>C (p.Val1510Ala) http://identifiers.org/clinvar/96984 ^@ NM_001036.4(RYR3):c.14128G>A (p.Asp4710Asn) http://identifiers.org/clinvar/96985 ^@ NM_014758.2(SNX19):c.842C>T (p.Ala281Val) http://identifiers.org/clinvar/97000 ^@ NM_000345.3(SNCA):c.152G>A (p.Gly51Asp) http://identifiers.org/clinvar/97001 ^@ NM_003764.3(STX11):c.173T>C (p.Leu58Pro) http://identifiers.org/clinvar/97002 ^@ NM_016606.3(REEP2):c.107T>A (p.Val36Glu) http://identifiers.org/clinvar/97003 ^@ NM_016606.3(REEP2):c.105+3G>T http://identifiers.org/clinvar/97004 ^@ NM_016606.3(REEP2):c.215T>A (p.Phe72Tyr) http://identifiers.org/clinvar/97006 ^@ NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) http://identifiers.org/clinvar/97008 ^@ NM_002160.3(TNC):c.5317G>A (p.Val1773Met) http://identifiers.org/clinvar/97009 ^@ NM_002160.3(TNC):c.5386A>T (p.Thr1796Ser) http://identifiers.org/clinvar/97015 ^@ NM_000441.1(SLC26A4):c.997dupA (p.Arg333Lysfs) http://identifiers.org/clinvar/97016 ^@ NM_001044.4(SLC6A3):c.1031+1G>A http://identifiers.org/clinvar/97017 ^@ NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro) http://identifiers.org/clinvar/97018 ^@ NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp) http://identifiers.org/clinvar/97020 ^@ NM_206883.2(SLC26A5):c.390A>C (p.Arg130Ser) http://identifiers.org/clinvar/97021 ^@ NM_206883.2(SLC26A5):c.209G>A (p.Trp70Ter) http://identifiers.org/clinvar/97022 ^@ NM_015662.2(IFT172):c.5179T>C (p.Cys1727Arg) http://identifiers.org/clinvar/97023 ^@ NM_015662.2(IFT172):c.4925_4928delGAGA (p.Arg1642Lysfs) http://identifiers.org/clinvar/97024 ^@ NM_015662.2(IFT172):c.4630C>T (p.Arg1544Cys) http://identifiers.org/clinvar/97025 ^@ NM_015662.2(IFT172):c.4607T>C (p.Leu1536Pro) http://identifiers.org/clinvar/97026 ^@ NM_015662.2(IFT172):c.2716C>T (p.Gln906Ter) http://identifiers.org/clinvar/97027 ^@ NM_015662.2(IFT172):c.3228+1G>A http://identifiers.org/clinvar/97028 ^@ NM_015662.2(IFT172):c.886C>T (p.Arg296Trp) http://identifiers.org/clinvar/97029 ^@ NM_015662.2(IFT172):c.1671_1672dupAG (p.Val558Glufs) http://identifiers.org/clinvar/97030 ^@ NM_015662.2(IFT172):c.1390_1395delGATATT (p.Asp464_Ile465del) http://identifiers.org/clinvar/97031 ^@ NM_015662.2(IFT172):c.1232T>A (p.Ile411Asn) http://identifiers.org/clinvar/97032 ^@ NM_015662.2(IFT172):c.2158delC (p.Arg720Valfs) http://identifiers.org/clinvar/97033 ^@ NM_015662.2(IFT172):c.3907C>T (p.Arg1303Ter) http://identifiers.org/clinvar/97034 ^@ NM_014754.2(PTDSS1):c.1058A>G (p.Gln353Arg) http://identifiers.org/clinvar/97035 ^@ NM_014754.2(PTDSS1):c.805C>T (p.Pro269Ser) http://identifiers.org/clinvar/97036 ^@ NM_014754.2(PTDSS1):c.794T>C (p.Leu265Pro) http://identifiers.org/clinvar/97037 ^@ NM_052844.3(WDR34):c.1022C>T (p.Ala341Val) http://identifiers.org/clinvar/97038 ^@ NM_052844.3(WDR34):c.1061C>T (p.Thr354Met) http://identifiers.org/clinvar/97039 ^@ NM_052844.3(WDR34):c.1339C>T (p.Arg447Trp) http://identifiers.org/clinvar/97040 ^@ NM_052844.3(WDR34):c.1340G>A (p.Arg447Gln) http://identifiers.org/clinvar/97041 ^@ NM_052844.3(WDR34):c.982-2A>C http://identifiers.org/clinvar/97042 ^@ NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) http://identifiers.org/clinvar/97043 ^@ NM_052844.3(WDR34):c.1541_1542delCA (p.Thr514Argfs) http://identifiers.org/clinvar/97044 ^@ NM_052844.3(WDR34):c.472C>T (p.Gln158Ter) http://identifiers.org/clinvar/97045 ^@ NM_052844.3(WDR34):c.1307A>G (p.Lys436Arg) http://identifiers.org/clinvar/97052 ^@ NM_014714.3(IFT140):c.4078T>C (p.Cys1360Arg) http://identifiers.org/clinvar/97053 ^@ NM_014714.3(IFT140):c.874G>A (p.Val292Met) http://identifiers.org/clinvar/97054 ^@ NM_014714.3(IFT140):c.1565G>A (p.Gly522Glu) http://identifiers.org/clinvar/97055 ^@ NM_014714.3(IFT140):c.1380delC (p.Asn460Lysfs) http://identifiers.org/clinvar/97056 ^@ NM_015284.3(SZT2):c.4202_4204delTCT (p.Phe1401del) http://identifiers.org/clinvar/97057 ^@ NM_001130010.2(C15orf41):c.533T>A (p.Leu178Gln) http://identifiers.org/clinvar/97058 ^@ NM_001130010.2(C15orf41):c.281A>G (p.Tyr94Cys) http://identifiers.org/clinvar/97063 ^@ NM_001097642.2(GJB1):c.172C>T (p.Pro58Ser) http://identifiers.org/clinvar/97064 ^@ NM_001013703.3(EIF2AK4):c.1392delT (p.Arg465Valfs) http://identifiers.org/clinvar/97065 ^@ NM_001013703.3(EIF2AK4):c.3802C>T (p.Gln1268Ter) http://identifiers.org/clinvar/97066 ^@ NM_001013703.3(EIF2AK4):c.567dupG (p.Lys190Glufs) http://identifiers.org/clinvar/97067 ^@ NM_001013703.3(EIF2AK4):c.3406C>T (p.Arg1136Ter) http://identifiers.org/clinvar/97068 ^@ NM_001013703.3(EIF2AK4):c.1754G>A (p.Arg585Gln) http://identifiers.org/clinvar/97069 ^@ NM_001013703.3(EIF2AK4):c.1387C>T (p.Arg463Ter) http://identifiers.org/clinvar/97070 ^@ NM_001290048.1(ATL3):c.521A>G (p.Tyr174Cys) http://identifiers.org/clinvar/97083 ^@ NM_001444.2(FABP5):c.279A>G (p.Ala93=) http://identifiers.org/clinvar/97084 ^@ NM_001444.2(FABP5):c.331T>C (p.Leu111=) http://identifiers.org/clinvar/97085 ^@ NM_001444.2(FABP5):c.371A>G (p.Asn124Ser) http://identifiers.org/clinvar/97086 ^@ NM_001446.4(FABP7):c.239delA (p.Asn80Thrfs) http://identifiers.org/clinvar/97087 ^@ NM_004102.4(FABP3):c.246+25delG http://identifiers.org/clinvar/97088 ^@ NM_004102.4(FABP3):c.349-19A>G http://identifiers.org/clinvar/97089 ^@ NM_000531.5(OTC):c.1005+1G>T http://identifiers.org/clinvar/97090 ^@ NM_000531.5(OTC):c.1005+2T>C http://identifiers.org/clinvar/97091 ^@ NM_000531.5(OTC):c.1005G>A (p.Met335Ile) http://identifiers.org/clinvar/97092 ^@ NM_000531.5(OTC):c.1006-1G>A http://identifiers.org/clinvar/97093 ^@ NM_000531.5(OTC):c.1006-3C>G http://identifiers.org/clinvar/97094 ^@ NM_000531.5(OTC):c.1006G>T (p.Ala336Ser) http://identifiers.org/clinvar/97095 ^@ NM_000531.5(OTC):c.1009G>C (p.Val337Leu) http://identifiers.org/clinvar/97096 ^@ NM_000531.5(OTC):c.1015G>C (p.Val339Leu) http://identifiers.org/clinvar/97097 ^@ NM_000531.5(OTC):c.1018T>C (p.Ser340Pro) http://identifiers.org/clinvar/97098 ^@ NM_000531.5(OTC):c.1022T>C (p.Leu341Pro) http://identifiers.org/clinvar/97099 ^@ NM_000531.5(OTC):c.1028C>A (p.Thr343Lys) http://identifiers.org/clinvar/97100 ^@ NM_000531.5(OTC):c.1033T>C (p.Tyr345His) http://identifiers.org/clinvar/97101 ^@ NM_000531.5(OTC):c.1034A>G (p.Tyr345Cys) http://identifiers.org/clinvar/97102 ^@ NM_000531.5(OTC):c.1039C>A (p.Pro347Thr) http://identifiers.org/clinvar/97103 ^@ NM_000531.5(OTC):c.1042C>T (p.Gln348Ter) http://identifiers.org/clinvar/97104 ^@ NM_000531.5(OTC):c.1061T>G (p.Phe354Cys) http://identifiers.org/clinvar/97105 ^@ NM_000531.5(OTC):c.106C>T (p.Gln36Ter) http://identifiers.org/clinvar/97106 ^@ NM_000531.5(OTC):c.115G>T (p.Gly39Cys) http://identifiers.org/clinvar/97107 ^@ NM_000531.5(OTC):c.122A>G (p.Asp41Gly) http://identifiers.org/clinvar/97108 ^@ NM_000531.5(OTC):c.127C>T (p.Leu43Phe) http://identifiers.org/clinvar/97109 ^@ NM_000531.5(OTC):c.131C>T (p.Thr44Ile) http://identifiers.org/clinvar/97110 ^@ NM_000531.5(OTC):c.133C>G (p.Leu45Val) http://identifiers.org/clinvar/97111 ^@ NM_000531.5(OTC):c.135delA (p.Asn47Thrfs) http://identifiers.org/clinvar/97112 ^@ NM_000531.5(OTC):c.140A>C (p.Asn47Thr) http://identifiers.org/clinvar/97113 ^@ NM_000531.5(OTC):c.140A>T (p.Asn47Ile) http://identifiers.org/clinvar/97114 ^@ NM_000531.5(OTC):c.140_141insG (p.Asn47Lysfs) http://identifiers.org/clinvar/93566 ^@ NM_001127500.2(MET):c.1131C>T (p.Ile377=) http://identifiers.org/clinvar/93567 ^@ NM_001127500.2(MET):c.144G>A (p.Ala48=) http://identifiers.org/clinvar/93568 ^@ NM_001127500.2(MET):c.147A>G (p.Glu49=) http://identifiers.org/clinvar/93569 ^@ NM_001127500.2(MET):c.1944A>G (p.Gln648=) http://identifiers.org/clinvar/93570 ^@ NM_001127500.2(MET):c.2488C>G (p.Gln830Glu) http://identifiers.org/clinvar/93571 ^@ NM_001127500.2(MET):c.289C>G (p.Pro97Ala) http://identifiers.org/clinvar/93572 ^@ NM_001127500.2(MET):c.3271C>T (p.Pro1091Ser) http://identifiers.org/clinvar/93573 ^@ NM_001127500.2(MET):c.390C>T (p.Leu130=) http://identifiers.org/clinvar/93574 ^@ NM_001127500.2(MET):c.3912C>T (p.Asp1304=) http://identifiers.org/clinvar/93575 ^@ NM_001127500.2(MET):c.4071G>A (p.Ala1357=) http://identifiers.org/clinvar/93576 ^@ NM_001127500.2(MET):c.4146G>A (p.Pro1382=) http://identifiers.org/clinvar/93577 ^@ NM_001127500.2(MET):c.4171G>C (p.Asp1391His) http://identifiers.org/clinvar/93578 ^@ NM_001127500.2(MET):c.534C>T (p.Ser178=) http://identifiers.org/clinvar/93579 ^@ NM_001127500.2(MET):c.654G>A (p.Arg218=) http://identifiers.org/clinvar/93580 ^@ NM_000319.4(PEX5):c.1543T>C (p.Leu515=) http://identifiers.org/clinvar/93581 ^@ NM_000319.4(PEX5):c.34G>A (p.Gly12Arg) http://identifiers.org/clinvar/93582 ^@ NM_000319.4(PEX5):c.81C>T (p.Asp27=) http://identifiers.org/clinvar/93583 ^@ NM_000319.4(PEX5):c.942+5G>A http://identifiers.org/clinvar/93584 ^@ NM_001135659.2(NRXN1):c.105C>A (p.Gly35=) http://identifiers.org/clinvar/93585 ^@ NM_001135659.2(NRXN1):c.1405C>T (p.Pro469Ser) http://identifiers.org/clinvar/93586 ^@ NM_001135659.2(NRXN1):c.1440+10G>A http://identifiers.org/clinvar/93587 ^@ NM_001135659.2(NRXN1):c.1820T>G (p.Leu607Trp) http://identifiers.org/clinvar/93588 ^@ NM_001135659.2(NRXN1):c.2089C>T (p.Arg697Trp) http://identifiers.org/clinvar/93589 ^@ NM_001135659.2(NRXN1):c.2242C>A (p.Leu748Ile) http://identifiers.org/clinvar/93590 ^@ NM_001135659.2(NRXN1):c.2505C>G (p.Pro835=) http://identifiers.org/clinvar/93591 ^@ NM_001135659.2(NRXN1):c.2541C>T (p.Asn847=) http://identifiers.org/clinvar/93592 ^@ NM_001135659.2(NRXN1):c.2725C>A (p.Leu909Met) http://identifiers.org/clinvar/93593 ^@ NM_001135659.2(NRXN1):c.2850G>A (p.Lys950=) http://identifiers.org/clinvar/93594 ^@ NM_001135659.2(NRXN1):c.2999+7A>G http://identifiers.org/clinvar/93595 ^@ NM_001135659.2(NRXN1):c.3132G>A (p.Lys1044=) http://identifiers.org/clinvar/93596 ^@ NM_001135659.2(NRXN1):c.3162C>T (p.Thr1054=) http://identifiers.org/clinvar/93597 ^@ NM_001135659.2(NRXN1):c.3165C>T (p.Ala1055=) http://identifiers.org/clinvar/93598 ^@ NM_001135659.2(NRXN1):c.3191-10C>T http://identifiers.org/clinvar/93599 ^@ NM_001135659.2(NRXN1):c.322C>T (p.Pro108Ser) http://identifiers.org/clinvar/93600 ^@ NM_001135659.2(NRXN1):c.3249A>G (p.Val1083=) http://identifiers.org/clinvar/93601 ^@ NM_001135659.2(NRXN1):c.3484+20T>C http://identifiers.org/clinvar/93602 ^@ NM_001135659.2(NRXN1):c.4053A>G (p.Ala1351=) http://identifiers.org/clinvar/93603 ^@ NM_001135659.2(NRXN1):c.511C>T (p.Leu171=) http://identifiers.org/clinvar/93604 ^@ NM_001142800.1(EYS):c.2309A>C (p.Gln770Pro) http://identifiers.org/clinvar/93605 ^@ NM_001142800.1(EYS):c.2555T>C (p.Leu852Pro) http://identifiers.org/clinvar/93606 ^@ NM_198283.1(EYS):c.*743000C>T http://identifiers.org/clinvar/93607 ^@ NM_198283.1(EYS):c.*743030A>G http://identifiers.org/clinvar/93608 ^@ NM_198283.1(EYS):c.*743067C>G http://identifiers.org/clinvar/93609 ^@ NM_198283.1(EYS):c.*743120C>T http://identifiers.org/clinvar/93610 ^@ NM_198283.1(EYS):c.*743175A>G http://identifiers.org/clinvar/93611 ^@ NM_198283.1(EYS):c.*743350T>C http://identifiers.org/clinvar/93612 ^@ NM_001142800.1(EYS):c.4352T>C (p.Ile1451Thr) http://identifiers.org/clinvar/93613 ^@ NM_001142800.1(EYS):c.4543C>T (p.Arg1515Trp) http://identifiers.org/clinvar/93614 ^@ NM_001142800.1(EYS):c.4549A>G (p.Ser1517Gly) http://identifiers.org/clinvar/93615 ^@ NM_198283.1(EYS):c.*743687G>A http://identifiers.org/clinvar/93616 ^@ NM_001142800.1(EYS):c.5244A>C (p.Leu1748Phe) http://identifiers.org/clinvar/93617 ^@ NM_001142800.1(EYS):c.5601T>C (p.Ser1867=) http://identifiers.org/clinvar/93618 ^@ NM_001142800.1(EYS):c.5617C>G (p.Leu1873Val) http://identifiers.org/clinvar/93619 ^@ NM_001142800.1(EYS):c.5977A>G (p.Thr1993Ala) http://identifiers.org/clinvar/93620 ^@ NM_001142800.1(EYS):c.6977G>A (p.Arg2326Gln) http://identifiers.org/clinvar/93621 ^@ NM_001142800.1(EYS):c.7095T>G (p.Tyr2365Ter) http://identifiers.org/clinvar/93622 ^@ NM_001142800.1(EYS):c.8408dupA (p.Asn2803Lysfs) http://identifiers.org/clinvar/93623 ^@ NM_001143979.1(NDE1):c.704-1G>A http://identifiers.org/clinvar/93624 ^@ NM_006920.4(SCN1A):c.1006T>G (p.Cys336Gly) http://identifiers.org/clinvar/93625 ^@ NM_006920.4(SCN1A):c.1029-1G>C http://identifiers.org/clinvar/93626 ^@ NM_001165963.1(SCN1A):c.1131A>C (p.Arg377=) http://identifiers.org/clinvar/93627 ^@ NM_006920.4(SCN1A):c.1162delT (p.Tyr388Ilefs) http://identifiers.org/clinvar/93628 ^@ NM_001165963.1(SCN1A):c.1171-10_1171-9delTT http://identifiers.org/clinvar/93629 ^@ NM_001165963.1(SCN1A):c.1220T>C (p.Ile407Thr) http://identifiers.org/clinvar/93630 ^@ NM_006920.4(SCN1A):c.135C>T (p.Asp45=) http://identifiers.org/clinvar/93631 ^@ NM_006920.4(SCN1A):c.1484A>G (p.Lys495Arg) http://identifiers.org/clinvar/93632 ^@ NM_006920.4(SCN1A):c.1662+7C>G http://identifiers.org/clinvar/93633 ^@ NM_001165963.1(SCN1A):c.1662+9C>A http://identifiers.org/clinvar/93634 ^@ NM_006920.4(SCN1A):c.1766A>T (p.Asp589Val) http://identifiers.org/clinvar/93635 ^@ NM_001165963.1(SCN1A):c.1837C>T (p.Arg613Ter) http://identifiers.org/clinvar/93636 ^@ NM_006920.4(SCN1A):c.1948G>A (p.Val650Met) http://identifiers.org/clinvar/93637 ^@ NM_001165963.1(SCN1A):c.2176+17A>G http://identifiers.org/clinvar/93638 ^@ NM_006920.4(SCN1A):c.2383-4T>G http://identifiers.org/clinvar/93639 ^@ NM_001165963.1(SCN1A):c.2576G>A (p.Arg859His) http://identifiers.org/clinvar/93640 ^@ NM_001165963.1(SCN1A):c.2716G>A (p.Val906Met) http://identifiers.org/clinvar/93641 ^@ NM_006920.4(SCN1A):c.2783A>G (p.His928Arg) http://identifiers.org/clinvar/93642 ^@ NM_001165963.1(SCN1A):c.2889T>C (p.Ala963=) http://identifiers.org/clinvar/93643 ^@ NM_001165963.1(SCN1A):c.345T>C (p.Asn115=) http://identifiers.org/clinvar/93644 ^@ NM_006920.4(SCN1A):c.3613G>A (p.Glu1205Lys) http://identifiers.org/clinvar/93645 ^@ NM_001165963.1(SCN1A):c.3776T>C (p.Phe1259Ser) http://identifiers.org/clinvar/93646 ^@ NM_001165963.1(SCN1A):c.3804T>C (p.Leu1268=) http://identifiers.org/clinvar/93647 ^@ NM_006920.4(SCN1A):c.3784G>C (p.Ala1262Pro) http://identifiers.org/clinvar/93648 ^@ NM_001165963.1(SCN1A):c.384-20G>C http://identifiers.org/clinvar/93649 ^@ NM_006920.4(SCN1A):c.4186C>T (p.Arg1396Ter) http://identifiers.org/clinvar/93650 ^@ NM_006920.4(SCN1A):c.4209C>G (p.Asn1403Lys) http://identifiers.org/clinvar/93651 ^@ NM_006920.4(SCN1A):c.4251+2T>C http://identifiers.org/clinvar/93652 ^@ NM_006920.4(SCN1A):c.4413C>T (p.Ile1471=) http://identifiers.org/clinvar/93653 ^@ NM_001165963.1(SCN1A):c.4584C>A (p.Asn1528Lys) http://identifiers.org/clinvar/93654 ^@ NM_006920.4(SCN1A):c.4634T>A (p.Val1545Asp) http://identifiers.org/clinvar/93655 ^@ NM_001165963.1(SCN1A):c.4731T>C (p.Asn1577=) http://identifiers.org/clinvar/93656 ^@ NM_006920.4(SCN1A):c.5108T>C (p.Met1703Thr) http://identifiers.org/clinvar/93657 ^@ NM_001165963.1(SCN1A):c.5418G>A (p.Glu1806=) http://identifiers.org/clinvar/93658 ^@ NM_006920.4(SCN1A):c.5506delC (p.Leu1836Serfs) http://identifiers.org/clinvar/93659 ^@ NM_006920.4(SCN1A):c.5749C>T (p.Arg1917Cys) http://identifiers.org/clinvar/93660 ^@ NM_001165963.1(SCN1A):c.5864T>C (p.Ile1955Thr) http://identifiers.org/clinvar/93661 ^@ NM_001165963.1(SCN1A):c.5951C>A (p.Pro1984His) http://identifiers.org/clinvar/93662 ^@ NM_006920.4(SCN1A):c.597A>G (p.Thr199=) http://identifiers.org/clinvar/93663 ^@ NM_001165963.1(SCN1A):c.694+10A>G http://identifiers.org/clinvar/93664 ^@ NM_006920.4(SCN1A):c.83G>A (p.Arg28His) http://identifiers.org/clinvar/93666 ^@ NM_033018.3(CDK16):c.745C>T (p.Leu249=) http://identifiers.org/clinvar/93667 ^@ NM_001184.3(ATR):c.4509A>T (p.Arg1503=) http://identifiers.org/clinvar/93668 ^@ NM_001184.3(ATR):c.632T>C (p.Met211Thr) http://identifiers.org/clinvar/93669 ^@ NM_001184.3(ATR):c.7875G>A (p.Gln2625=) http://identifiers.org/clinvar/93670 ^@ NM_001105243.1(PCDH19):c.1137C>T (p.Gly379=) http://identifiers.org/clinvar/93671 ^@ NM_001105243.1(PCDH19):c.1627C>T (p.Leu543=) http://identifiers.org/clinvar/93672 ^@ NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) http://identifiers.org/clinvar/93673 ^@ NM_001105243.1(PCDH19):c.2328G>A (p.Leu776=) http://identifiers.org/clinvar/93674 ^@ NM_001184880.1(PCDH19):c.3235C>G (p.Pro1079Ala) http://identifiers.org/clinvar/93675 ^@ NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) http://identifiers.org/clinvar/93676 ^@ NM_001184880.1(PCDH19):c.374A>G (p.Asn125Ser) http://identifiers.org/clinvar/93677 ^@ NM_001105243.1(PCDH19):c.402C>A (p.Ile134=) http://identifiers.org/clinvar/93678 ^@ NM_001184880.1(PCDH19):c.655C>T (p.Leu219=) http://identifiers.org/clinvar/93679 ^@ NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) http://identifiers.org/clinvar/93680 ^@ NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) http://identifiers.org/clinvar/93681 ^@ NM_001277115.1(DNAH11):c.100G>T (p.Glu34Ter) http://identifiers.org/clinvar/93682 ^@ NM_001277115.1(DNAH11):c.100_101delGAinsTT (p.Glu34Leu) http://identifiers.org/clinvar/93683 ^@ NM_001277115.1(DNAH11):c.101A>T (p.Glu34Val) http://identifiers.org/clinvar/93684 ^@ NM_001277115.1(DNAH11):c.2454A>G (p.Ala818=) http://identifiers.org/clinvar/93685 ^@ NM_001277115.1(DNAH11):c.2835A>G (p.Gln945=) http://identifiers.org/clinvar/93686 ^@ NM_001277115.1(DNAH11):c.3853-5C>G http://identifiers.org/clinvar/93687 ^@ NM_001277115.1(DNAH11):c.4377+15A>G http://identifiers.org/clinvar/93688 ^@ NM_001277115.1(DNAH11):c.4378-17_4378-16insATTTA http://identifiers.org/clinvar/93689 ^@ NM_001277115.1(DNAH11):c.4430T>C (p.Val1477Ala) http://identifiers.org/clinvar/93690 ^@ NM_001277115.1(DNAH11):c.4449T>C (p.Ile1483=) http://identifiers.org/clinvar/93691 ^@ NM_001277115.1(DNAH11):c.5490G>A (p.Leu1830=) http://identifiers.org/clinvar/93692 ^@ NM_001277115.1(DNAH11):c.5621+11A>T http://identifiers.org/clinvar/93693 ^@ NM_001277115.1(DNAH11):c.705C>T (p.Asn235=) http://identifiers.org/clinvar/93694 ^@ NM_001277115.1(DNAH11):c.7290C>T (p.Phe2430=) http://identifiers.org/clinvar/93695 ^@ NM_001289.5(CLIC2):c.*19C= http://identifiers.org/clinvar/93696 ^@ NM_001297.4(CNGB1):c.1479G>A (p.Pro493=) http://identifiers.org/clinvar/93697 ^@ NM_001297.4(CNGB1):c.2218-12C>T http://identifiers.org/clinvar/93698 ^@ NM_001297.4(CNGB1):c.2233C>A (p.Leu745Ile) http://identifiers.org/clinvar/93699 ^@ NM_001297.4(CNGB1):c.2266G>A (p.Gly756Ser) http://identifiers.org/clinvar/93700 ^@ NM_001297.4(CNGB1):c.2664C>A (p.Ala888=) http://identifiers.org/clinvar/93701 ^@ NM_001297.4(CNGB1):c.285G>T (p.Met95Ile) http://identifiers.org/clinvar/93702 ^@ NM_001297.4(CNGB1):c.2978G>A (p.Gly993Glu) http://identifiers.org/clinvar/93703 ^@ NM_001297.4(CNGB1):c.606A>G (p.Glu202=) http://identifiers.org/clinvar/93704 ^@ NM_001297.4(CNGB1):c.712G>A (p.Gly238Ser) http://identifiers.org/clinvar/93705 ^@ NM_001297.4(CNGB1):c.952C>T (p.Gln318Ter) http://identifiers.org/clinvar/93706 ^@ NM_001360.2(DHCR7):c.1012G>A (p.Val338Met) http://identifiers.org/clinvar/93707 ^@ NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) http://identifiers.org/clinvar/93708 ^@ NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) http://identifiers.org/clinvar/93709 ^@ NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) http://identifiers.org/clinvar/93710 ^@ NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) http://identifiers.org/clinvar/93711 ^@ NM_001360.2(DHCR7):c.1384T>C (p.Tyr462His) http://identifiers.org/clinvar/93712 ^@ NM_001360.2(DHCR7):c.151C>T (p.Pro51Ser) http://identifiers.org/clinvar/93713 ^@ NM_001360.2(DHCR7):c.189G>A (p.Gln63=) http://identifiers.org/clinvar/93714 ^@ NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) http://identifiers.org/clinvar/93715 ^@ NM_001360.2(DHCR7):c.207T>C (p.Thr69=) http://identifiers.org/clinvar/93716 ^@ NM_001360.2(DHCR7):c.231C>T (p.Thr77=) http://identifiers.org/clinvar/93717 ^@ NM_001360.2(DHCR7):c.321+10C>T http://identifiers.org/clinvar/93718 ^@ NM_001360.2(DHCR7):c.400G>T (p.Val134Leu) http://identifiers.org/clinvar/93719 ^@ NM_001360.2(DHCR7):c.438T>C (p.Asn146=) http://identifiers.org/clinvar/93720 ^@ NM_001360.2(DHCR7):c.485C>T (p.Ala162Val) http://identifiers.org/clinvar/93721 ^@ NM_001360.2(DHCR7):c.626+15G>A http://identifiers.org/clinvar/93722 ^@ NM_001360.2(DHCR7):c.69C>T (p.Thr23=) http://identifiers.org/clinvar/93723 ^@ NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) http://identifiers.org/clinvar/93724 ^@ NM_001360.2(DHCR7):c.841G>A (p.Val281Met) http://identifiers.org/clinvar/93725 ^@ NM_001360.2(DHCR7):c.964-1G>C http://identifiers.org/clinvar/93726 ^@ NM_001360.2(DHCR7):c.99-4G>A http://identifiers.org/clinvar/93727 ^@ NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) http://identifiers.org/clinvar/93728 ^@ NM_001382.3(DPAGT1):c.1177A>G (p.Ile393Val) http://identifiers.org/clinvar/93729 ^@ NM_001382.3(DPAGT1):c.322A>G (p.Met108Val) http://identifiers.org/clinvar/93730 ^@ NM_001382.3(DPAGT1):c.352C>G (p.Leu118Val) http://identifiers.org/clinvar/93731 ^@ NM_001414.3(EIF2B1):c.370-20A>G http://identifiers.org/clinvar/93732 ^@ NM_001429.3(EP300):c.2053+8G>T http://identifiers.org/clinvar/93733 ^@ NM_001429.3(EP300):c.2131+18T>A http://identifiers.org/clinvar/93734 ^@ NM_001429.3(EP300):c.2419A>G (p.Ile807Val) http://identifiers.org/clinvar/93735 ^@ NM_001429.3(EP300):c.2499G>A (p.Ser833=) http://identifiers.org/clinvar/93736 ^@ NM_001429.3(EP300):c.2989A>G (p.Ile997Val) http://identifiers.org/clinvar/93737 ^@ NM_001429.3(EP300):c.3063T>C (p.Thr1021=) http://identifiers.org/clinvar/93738 ^@ NM_001429.3(EP300):c.3183T>A (p.Thr1061=) http://identifiers.org/clinvar/93739 ^@ NM_001429.3(EP300):c.3354C>T (p.Val1118=) http://identifiers.org/clinvar/93740 ^@ NM_001429.3(EP300):c.4026-17C>A http://identifiers.org/clinvar/93741 ^@ NM_001429.3(EP300):c.4452+20C>T http://identifiers.org/clinvar/93742 ^@ NM_001429.3(EP300):c.4618-18C>T http://identifiers.org/clinvar/93743 ^@ NM_001429.3(EP300):c.5572C>G (p.Pro1858Ala) http://identifiers.org/clinvar/93744 ^@ NM_001429.3(EP300):c.6668A>C (p.Gln2223Pro) http://identifiers.org/clinvar/93745 ^@ NM_001429.3(EP300):c.730-18_730-9delTTTGTTTCTT http://identifiers.org/clinvar/93747 ^@ NM_001453.2(FOXC1):c.1359_1361dupCGG (p.Gly456_Gln457insGly) http://identifiers.org/clinvar/93748 ^@ NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) http://identifiers.org/clinvar/93749 ^@ NM_001110556.1(FLNA):c.134A>G (p.Gln45Arg) http://identifiers.org/clinvar/93750 ^@ NM_001110556.1(FLNA):c.1429+8C>T http://identifiers.org/clinvar/93751 ^@ NM_001456.3(FLNA):c.237G>C (p.Ala79=) http://identifiers.org/clinvar/93752 ^@ NM_001110556.1(FLNA):c.2761C>T (p.Arg921Ter) http://identifiers.org/clinvar/93753 ^@ NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) http://identifiers.org/clinvar/93754 ^@ NM_001456.3(FLNA):c.3147C>T (p.Gly1049=) http://identifiers.org/clinvar/93755 ^@ NM_001110556.1(FLNA):c.3153dupC (p.Val1052Argfs) http://identifiers.org/clinvar/93756 ^@ NM_001110556.1(FLNA):c.3323G>A (p.Cys1108Tyr) http://identifiers.org/clinvar/93757 ^@ NM_001456.3(FLNA):c.3379G>A (p.Val1127Met) http://identifiers.org/clinvar/93758 ^@ NM_001110556.1(FLNA):c.374-19G>A http://identifiers.org/clinvar/93759 ^@ NM_001110556.1(FLNA):c.4263C>T (p.Thr1421=) http://identifiers.org/clinvar/93760 ^@ NM_001110556.1(FLNA):c.42delC (p.Ala15Argfs) http://identifiers.org/clinvar/93761 ^@ NM_001110556.1(FLNA):c.4447_4448insAT (p.Leu1483Tyrfs) http://identifiers.org/clinvar/93762 ^@ NM_001110556.1(FLNA):c.4543C>T (p.Arg1515Ter) http://identifiers.org/clinvar/93763 ^@ NM_001110556.1(FLNA):c.4920G>A (p.Gly1640=) http://identifiers.org/clinvar/93764 ^@ NM_001110556.1(FLNA):c.5132_5133delTCinsAA (p.Phe1711Ter) http://identifiers.org/clinvar/93765 ^@ NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) http://identifiers.org/clinvar/93766 ^@ NM_001110556.1(FLNA):c.5850T>C (p.Ala1950=) http://identifiers.org/clinvar/93767 ^@ NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) http://identifiers.org/clinvar/93768 ^@ NM_001110556.1(FLNA):c.6227-7C>T http://identifiers.org/clinvar/93770 ^@ NM_001456.3(FLNA):c.6618G>C (p.Val2206=) http://identifiers.org/clinvar/93771 ^@ NM_001110556.1(FLNA):c.663C>T (p.Pro221=) http://identifiers.org/clinvar/93772 ^@ NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) http://identifiers.org/clinvar/93774 ^@ NM_001110556.1(FLNA):c.7671C>T (p.Ala2557=) http://identifiers.org/clinvar/93775 ^@ NM_001110556.1(FLNA):c.7756+11C>T http://identifiers.org/clinvar/93776 ^@ NM_001456.3(FLNA):c.869-7C>T http://identifiers.org/clinvar/93777 ^@ NM_001456.3(FLNA):c.882A>G (p.Thr294=) http://identifiers.org/clinvar/93778 ^@ NM_001497.3(B4GALT1):c.517G>A (p.Val173Ile) http://identifiers.org/clinvar/93779 ^@ NM_001497.3(B4GALT1):c.597C>T (p.His199=) http://identifiers.org/clinvar/93780 ^@ NM_001551.2(IGBP1):c.317G>A (p.Arg106Gln) http://identifiers.org/clinvar/93781 ^@ NM_001626.5(AKT2):c.523G>A (p.Gly175Ser) http://identifiers.org/clinvar/93782 ^@ NM_001793.5(CDH3):c.2178G>A (p.Pro726=) http://identifiers.org/clinvar/93783 ^@ NM_001793.5(CDH3):c.2239C>A (p.Arg747=) http://identifiers.org/clinvar/93785 ^@ NM_001830.3(CLCN4):c.1503G>A (p.Arg501=) http://identifiers.org/clinvar/93786 ^@ NM_001844.4(COL2A1):c.1052delG (p.Gly351Alafs) http://identifiers.org/clinvar/93787 ^@ NM_001844.4(COL2A1):c.2400T>C (p.Asn800=) http://identifiers.org/clinvar/93788 ^@ NM_001844.4(COL2A1):c.25A>T (p.Thr9Ser) http://identifiers.org/clinvar/93789 ^@ NM_001844.4(COL2A1):c.2673C>G (p.Gly891=) http://identifiers.org/clinvar/93790 ^@ NM_001844.4(COL2A1):c.4064G>A (p.Gly1355Asp) http://identifiers.org/clinvar/93791 ^@ NM_001844.4(COL2A1):c.85+18C>G http://identifiers.org/clinvar/93792 ^@ NM_001848.2(COL6A1):c.-5C>G http://identifiers.org/clinvar/93793 ^@ NM_001848.2(COL6A1):c.1002+37A>G http://identifiers.org/clinvar/93794 ^@ NM_001848.2(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG http://identifiers.org/clinvar/93795 ^@ NM_001848.2(COL6A1):c.1002+43A>G http://identifiers.org/clinvar/93796 ^@ NM_001848.2(COL6A1):c.1002+43_1002+52delAATGGGGCGA http://identifiers.org/clinvar/93797 ^@ NM_001848.2(COL6A1):c.1002+43_1002+81del39 http://identifiers.org/clinvar/93798 ^@ NM_001848.2(COL6A1):c.1002+45T>C http://identifiers.org/clinvar/93799 ^@ NM_001848.2(COL6A1):c.1002+50C>A http://identifiers.org/clinvar/93800 ^@ NM_001848.2(COL6A1):c.1002+50C>T http://identifiers.org/clinvar/93801 ^@ NM_001848.2(COL6A1):c.1024_1032delCTGCCAGGC (p.Leu342_Gly344del) http://identifiers.org/clinvar/93803 ^@ NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) http://identifiers.org/clinvar/93804 ^@ NM_001848.2(COL6A1):c.105C>G (p.Pro35=) http://identifiers.org/clinvar/93805 ^@ NM_001848.2(COL6A1):c.1095T>C (p.Gly365=) http://identifiers.org/clinvar/93806 ^@ NM_001848.2(COL6A1):c.1119+39C>T http://identifiers.org/clinvar/93807 ^@ NM_001848.2(COL6A1):c.1120-12G>A http://identifiers.org/clinvar/93808 ^@ NM_001848.2(COL6A1):c.1273-8C>T http://identifiers.org/clinvar/93809 ^@ NM_001848.2(COL6A1):c.1314G>A (p.Thr438=) http://identifiers.org/clinvar/93810 ^@ NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln) http://identifiers.org/clinvar/93811 ^@ NM_001848.2(COL6A1):c.1335+27A>C http://identifiers.org/clinvar/93812 ^@ NM_001848.2(COL6A1):c.1398+10G>A http://identifiers.org/clinvar/93813 ^@ NM_001848.2(COL6A1):c.1399-32T>C http://identifiers.org/clinvar/93814 ^@ NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) http://identifiers.org/clinvar/93815 ^@ NM_001848.2(COL6A1):c.1461+18C>A http://identifiers.org/clinvar/93816 ^@ NM_001848.2(COL6A1):c.1461+41dupG http://identifiers.org/clinvar/93817 ^@ NM_001848.2(COL6A1):c.1462-36A>G http://identifiers.org/clinvar/93818 ^@ NM_001848.2(COL6A1):c.1505C>T (p.Pro502Leu) http://identifiers.org/clinvar/93819 ^@ NM_001848.2(COL6A1):c.1518T>C (p.Gly506=) http://identifiers.org/clinvar/93820 ^@ NM_001848.2(COL6A1):c.1524+15G>A http://identifiers.org/clinvar/93821 ^@ NM_001848.2(COL6A1):c.1524+19G>C http://identifiers.org/clinvar/93822 ^@ NM_001848.2(COL6A1):c.1525-60A>G http://identifiers.org/clinvar/93823 ^@ NM_001848.2(COL6A1):c.1612-10G>A http://identifiers.org/clinvar/93824 ^@ NM_001848.2(COL6A1):c.1612-6C>T http://identifiers.org/clinvar/93825 ^@ NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) http://identifiers.org/clinvar/93826 ^@ NM_001848.2(COL6A1):c.1675-55C>T http://identifiers.org/clinvar/93827 ^@ NM_001848.2(COL6A1):c.1740+50C>T http://identifiers.org/clinvar/93828 ^@ NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) http://identifiers.org/clinvar/93829 ^@ NM_001848.2(COL6A1):c.1813+25T>G http://identifiers.org/clinvar/93830 ^@ NM_001848.2(COL6A1):c.1814-6C>G http://identifiers.org/clinvar/93831 ^@ NM_001848.2(COL6A1):c.1822+42G>C http://identifiers.org/clinvar/93832 ^@ NM_001848.2(COL6A1):c.1822+45C>G http://identifiers.org/clinvar/93833 ^@ NM_001848.2(COL6A1):c.1822+45C>T http://identifiers.org/clinvar/93834 ^@ NM_001848.2(COL6A1):c.1822+80G>A http://identifiers.org/clinvar/93835 ^@ NM_001848.2(COL6A1):c.1822+88A>G http://identifiers.org/clinvar/93836 ^@ NM_001848.2(COL6A1):c.1823-31C>T http://identifiers.org/clinvar/93837 ^@ NM_001848.2(COL6A1):c.1823-8G>A http://identifiers.org/clinvar/93838 ^@ NM_001848.2(COL6A1):c.1823-9C>T http://identifiers.org/clinvar/93839 ^@ NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) http://identifiers.org/clinvar/93840 ^@ NM_001848.2(COL6A1):c.1931G>A (p.Arg644Gln) http://identifiers.org/clinvar/93841 ^@ NM_001848.2(COL6A1):c.1956+15C>T http://identifiers.org/clinvar/93842 ^@ NM_001848.2(COL6A1):c.1957-11C>T http://identifiers.org/clinvar/93843 ^@ NM_001848.2(COL6A1):c.1957-5C>T http://identifiers.org/clinvar/93844 ^@ NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) http://identifiers.org/clinvar/93845 ^@ NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) http://identifiers.org/clinvar/93846 ^@ NM_001848.2(COL6A1):c.2067-10T>C http://identifiers.org/clinvar/93847 ^@ NM_001848.2(COL6A1):c.2091G>A (p.Met697Ile) http://identifiers.org/clinvar/93848 ^@ NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) http://identifiers.org/clinvar/93849 ^@ NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) http://identifiers.org/clinvar/93850 ^@ NM_001848.2(COL6A1):c.2251-29C>T http://identifiers.org/clinvar/93851 ^@ NM_001848.2(COL6A1):c.2304G>C (p.Gln768His) http://identifiers.org/clinvar/93852 ^@ NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln) http://identifiers.org/clinvar/93853 ^@ NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) http://identifiers.org/clinvar/93854 ^@ NM_001848.2(COL6A1):c.2434+15A>G http://identifiers.org/clinvar/93855 ^@ NM_001848.2(COL6A1):c.2434+20G>A http://identifiers.org/clinvar/93856 ^@ NM_001848.2(COL6A1):c.2434+55G>A http://identifiers.org/clinvar/93857 ^@ NM_001848.2(COL6A1):c.2435-19C>T http://identifiers.org/clinvar/93858 ^@ NM_001848.2(COL6A1):c.2435-36A>C http://identifiers.org/clinvar/93859 ^@ NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) http://identifiers.org/clinvar/93860 ^@ NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) http://identifiers.org/clinvar/93861 ^@ NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) http://identifiers.org/clinvar/93862 ^@ NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp) http://identifiers.org/clinvar/93863 ^@ NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) http://identifiers.org/clinvar/93864 ^@ NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) http://identifiers.org/clinvar/93865 ^@ NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) http://identifiers.org/clinvar/93866 ^@ NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) http://identifiers.org/clinvar/93867 ^@ NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) http://identifiers.org/clinvar/93868 ^@ NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) http://identifiers.org/clinvar/93869 ^@ NM_001848.2(COL6A1):c.2783G>A (p.Arg928His) http://identifiers.org/clinvar/93870 ^@ NM_001848.2(COL6A1):c.2796C>T (p.Ser932=) http://identifiers.org/clinvar/93871 ^@ NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) http://identifiers.org/clinvar/93872 ^@ NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) http://identifiers.org/clinvar/93873 ^@ NM_001848.2(COL6A1):c.428+14A>G http://identifiers.org/clinvar/93874 ^@ NM_001848.2(COL6A1):c.428+39C>G http://identifiers.org/clinvar/93875 ^@ NM_001848.2(COL6A1):c.428+40G>A http://identifiers.org/clinvar/93876 ^@ NM_001848.2(COL6A1):c.429-19G>A http://identifiers.org/clinvar/93877 ^@ NM_001848.2(COL6A1):c.549C>T (p.Gly183=) http://identifiers.org/clinvar/93878 ^@ NM_001848.2(COL6A1):c.588+12_588+13insA http://identifiers.org/clinvar/93879 ^@ NM_001848.2(COL6A1):c.588+13C>A http://identifiers.org/clinvar/93880 ^@ NM_001848.2(COL6A1):c.588+19dupC http://identifiers.org/clinvar/93881 ^@ NM_001848.2(COL6A1):c.588+37A>G http://identifiers.org/clinvar/93882 ^@ NM_001848.2(COL6A1):c.588+8C>G http://identifiers.org/clinvar/93883 ^@ NM_001848.2(COL6A1):c.645G>A (p.Ala215=) http://identifiers.org/clinvar/93884 ^@ NM_001848.2(COL6A1):c.717+32C>T http://identifiers.org/clinvar/93885 ^@ NM_001848.2(COL6A1):c.738+14C>T http://identifiers.org/clinvar/93886 ^@ NM_001848.2(COL6A1):c.739-18C>T http://identifiers.org/clinvar/93887 ^@ NM_001848.2(COL6A1):c.739-51C>T http://identifiers.org/clinvar/93888 ^@ NM_001848.2(COL6A1):c.805-2A>G http://identifiers.org/clinvar/93889 ^@ NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) http://identifiers.org/clinvar/93890 ^@ NM_001848.2(COL6A1):c.859-18T>A http://identifiers.org/clinvar/93891 ^@ NM_001848.2(COL6A1):c.859-19A>G http://identifiers.org/clinvar/93892 ^@ NM_001848.2(COL6A1):c.859-20C>T http://identifiers.org/clinvar/93893 ^@ NM_001848.2(COL6A1):c.859-22A>G http://identifiers.org/clinvar/93894 ^@ NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg) http://identifiers.org/clinvar/93895 ^@ NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) http://identifiers.org/clinvar/93896 ^@ NM_001848.2(COL6A1):c.896G>A (p.Gly299Glu) http://identifiers.org/clinvar/93897 ^@ NM_001848.2(COL6A1):c.903+14C>A http://identifiers.org/clinvar/93898 ^@ NM_001848.2(COL6A1):c.958-17G>A http://identifiers.org/clinvar/93899 ^@ NM_001849.3(COL6A2):c.1116+22C>T http://identifiers.org/clinvar/93900 ^@ NM_001849.3(COL6A2):c.1116+32G>A http://identifiers.org/clinvar/93901 ^@ NM_001849.3(COL6A2):c.116-34G>A http://identifiers.org/clinvar/93902 ^@ NM_001849.3(COL6A2):c.1161C>T (p.Ile387=) http://identifiers.org/clinvar/93903 ^@ NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn) http://identifiers.org/clinvar/93904 ^@ NM_001849.3(COL6A2):c.1251C>T (p.Arg417=) http://identifiers.org/clinvar/93905 ^@ NM_001849.3(COL6A2):c.1332+26A>G http://identifiers.org/clinvar/93906 ^@ NM_001849.3(COL6A2):c.1333-8T>C http://identifiers.org/clinvar/93907 ^@ NM_001849.3(COL6A2):c.1461delA (p.Ser488Leufs) http://identifiers.org/clinvar/93908 ^@ NM_001849.3(COL6A2):c.1521+21A>G http://identifiers.org/clinvar/93909 ^@ NM_001849.3(COL6A2):c.1522-1G>A http://identifiers.org/clinvar/93910 ^@ NM_001849.3(COL6A2):c.1522-36T>C http://identifiers.org/clinvar/93911 ^@ NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) http://identifiers.org/clinvar/93912 ^@ NM_001849.3(COL6A2):c.1573-32C>T http://identifiers.org/clinvar/93913 ^@ NM_001849.3(COL6A2):c.1609-10C>T http://identifiers.org/clinvar/93914 ^@ NM_001849.3(COL6A2):c.1671+10A>G http://identifiers.org/clinvar/93915 ^@ NM_001849.3(COL6A2):c.1671+9C>T http://identifiers.org/clinvar/93916 ^@ NM_001849.3(COL6A2):c.1672-24C>G http://identifiers.org/clinvar/93917 ^@ NM_001849.3(COL6A2):c.1672-37G>T http://identifiers.org/clinvar/93918 ^@ NM_001849.3(COL6A2):c.1734+35A>G http://identifiers.org/clinvar/93919 ^@ NM_001849.3(COL6A2):c.1735-30A>G http://identifiers.org/clinvar/93920 ^@ NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) http://identifiers.org/clinvar/93921 ^@ NM_001849.3(COL6A2):c.1770+4G>A http://identifiers.org/clinvar/93922 ^@ NM_001849.3(COL6A2):c.1771-25A>G http://identifiers.org/clinvar/93923 ^@ NM_001849.3(COL6A2):c.1816+18delG http://identifiers.org/clinvar/93924 ^@ NM_001849.3(COL6A2):c.1817-33C>T http://identifiers.org/clinvar/93925 ^@ NM_001849.3(COL6A2):c.1817-3dupC http://identifiers.org/clinvar/93926 ^@ NM_001849.3(COL6A2):c.1970-23G>C http://identifiers.org/clinvar/93927 ^@ NM_001849.3(COL6A2):c.1970-3C>A http://identifiers.org/clinvar/93928 ^@ NM_001849.3(COL6A2):c.1998C>G (p.Ser666Arg) http://identifiers.org/clinvar/93929 ^@ NM_001849.3(COL6A2):c.2039G>A (p.Arg680His) http://identifiers.org/clinvar/93930 ^@ NM_001849.3(COL6A2):c.2094G>A (p.Ala698=) http://identifiers.org/clinvar/93931 ^@ NM_001849.3(COL6A2):c.2097C>T (p.Gly699=) http://identifiers.org/clinvar/93932 ^@ NM_001849.3(COL6A2):c.2113T>C (p.Ser705Pro) http://identifiers.org/clinvar/93933 ^@ NM_001849.3(COL6A2):c.2136C>T (p.Asp712=) http://identifiers.org/clinvar/93934 ^@ NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) http://identifiers.org/clinvar/93935 ^@ NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) http://identifiers.org/clinvar/93936 ^@ NM_001849.3(COL6A2):c.2184G>A (p.Val728=) http://identifiers.org/clinvar/93937 ^@ NM_001849.3(COL6A2):c.2241G>A (p.Leu747=) http://identifiers.org/clinvar/93938 ^@ NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) http://identifiers.org/clinvar/93939 ^@ NM_001849.3(COL6A2):c.2423-35C>A http://identifiers.org/clinvar/93940 ^@ NM_001849.3(COL6A2):c.2462-35C>T http://identifiers.org/clinvar/93941 ^@ NM_001849.3(COL6A2):c.2484G>A (p.Thr828=) http://identifiers.org/clinvar/93942 ^@ NM_001849.3(COL6A2):c.2580G>A (p.Ala860=) http://identifiers.org/clinvar/93943 ^@ NM_001849.3(COL6A2):c.2610C>T (p.Asp870=) http://identifiers.org/clinvar/93944 ^@ NM_001849.3(COL6A2):c.2697G>T (p.Thr899=) http://identifiers.org/clinvar/93945 ^@ NM_001849.3(COL6A2):c.2724A>G (p.Thr908=) http://identifiers.org/clinvar/93946 ^@ NM_001849.3(COL6A2):c.2761G>A (p.Val921Met) http://identifiers.org/clinvar/93947 ^@ NM_001849.3(COL6A2):c.2769C>T (p.His923=) http://identifiers.org/clinvar/93948 ^@ NM_001849.3(COL6A2):c.2803G>A (p.Gly935Arg) http://identifiers.org/clinvar/93949 ^@ NM_001849.3(COL6A2):c.2886C>T (p.His962=) http://identifiers.org/clinvar/93950 ^@ NM_001849.3(COL6A2):c.2979C>T (p.Arg993=) http://identifiers.org/clinvar/93951 ^@ NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) http://identifiers.org/clinvar/93952 ^@ NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) http://identifiers.org/clinvar/93953 ^@ NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) http://identifiers.org/clinvar/93954 ^@ NM_001849.3(COL6A2):c.499G>A (p.Gly167Ser) http://identifiers.org/clinvar/93955 ^@ NM_001849.3(COL6A2):c.663C>T (p.Pro221=) http://identifiers.org/clinvar/93956 ^@ NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) http://identifiers.org/clinvar/93957 ^@ NM_001849.3(COL6A2):c.714+29G>A http://identifiers.org/clinvar/93958 ^@ NM_001849.3(COL6A2):c.714+45C>T http://identifiers.org/clinvar/93959 ^@ NM_001849.3(COL6A2):c.714+9C>T http://identifiers.org/clinvar/93960 ^@ NM_001849.3(COL6A2):c.759A>G (p.Glu253=) http://identifiers.org/clinvar/93961 ^@ NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) http://identifiers.org/clinvar/93962 ^@ NM_001849.3(COL6A2):c.855+2T>G http://identifiers.org/clinvar/93963 ^@ NM_001849.3(COL6A2):c.928-19C>T http://identifiers.org/clinvar/93964 ^@ NM_001849.3(COL6A2):c.955-8C>T http://identifiers.org/clinvar/93965 ^@ NM_001854.3(COL11A1):c.1308+19A>G http://identifiers.org/clinvar/93966 ^@ NM_001854.3(COL11A1):c.1792-12_1792-10delATG http://identifiers.org/clinvar/93967 ^@ NM_001854.3(COL11A1):c.1872A>G (p.Pro624=) http://identifiers.org/clinvar/93968 ^@ NM_001854.3(COL11A1):c.215C>G (p.Thr72Ser) http://identifiers.org/clinvar/93969 ^@ NM_001854.3(COL11A1):c.660T>C (p.Ile220=) http://identifiers.org/clinvar/93970 ^@ NM_001854.3(COL11A1):c.893C>T (p.Thr298Met) http://identifiers.org/clinvar/93971 ^@ NM_001031847.2(CPT1A):c.100T>C (p.Ser34Pro) http://identifiers.org/clinvar/93972 ^@ NM_001031847.2(CPT1A):c.222C>A (p.Tyr74Ter) http://identifiers.org/clinvar/93973 ^@ NM_001031847.2(CPT1A):c.281+1G>A http://identifiers.org/clinvar/93974 ^@ NM_001876.3(CPT1A):c.556-12delC http://identifiers.org/clinvar/93975 ^@ NM_001876.3(CPT1A):c.556-16C>T http://identifiers.org/clinvar/93976 ^@ NM_001876.3(CPT1A):c.556-19T>G http://identifiers.org/clinvar/93977 ^@ NM_001876.3(CPT1A):c.963G>A (p.Glu321=) http://identifiers.org/clinvar/93978 ^@ NM_001876.3(CPT1A):c.967+3G>A http://identifiers.org/clinvar/93979 ^@ NM_001876.3(CPT1A):c.968-8C>T http://identifiers.org/clinvar/93980 ^@ NM_001918.3(DBT):c.1024C>G (p.His342Asp) http://identifiers.org/clinvar/93981 ^@ NM_001918.3(DBT):c.1096T>C (p.Ser366Pro) http://identifiers.org/clinvar/93982 ^@ NM_001918.3(DBT):c.1127G>A (p.Arg376His) http://identifiers.org/clinvar/93983 ^@ NM_001918.3(DBT):c.1133A>C (p.Gln378Pro) http://identifiers.org/clinvar/93985 ^@ NM_001918.3(DBT):c.1210-10T>A http://identifiers.org/clinvar/93986 ^@ NM_001918.3(DBT):c.1210-22delT http://identifiers.org/clinvar/93987 ^@ NM_001918.3(DBT):c.1210-9A>T http://identifiers.org/clinvar/93988 ^@ NM_001918.3(DBT):c.1258A>G (p.Ile420Val) http://identifiers.org/clinvar/93989 ^@ NM_001918.3(DBT):c.1281+31T>G http://identifiers.org/clinvar/93990 ^@ NM_001918.3(DBT):c.1281+6T>G http://identifiers.org/clinvar/93991 ^@ NM_001918.3(DBT):c.1291C>T (p.Arg431Ter) http://identifiers.org/clinvar/93992 ^@ NM_001918.3(DBT):c.1348G>A (p.Ala450Thr) http://identifiers.org/clinvar/93993 ^@ NM_001918.3(DBT):c.1418A>G (p.Asn473Ser) http://identifiers.org/clinvar/93994 ^@ NM_001918.3(DBT):c.1430T>G (p.Met477Arg) http://identifiers.org/clinvar/93995 ^@ NM_001918.3(DBT):c.1447T>C (p.Ter483Arg) http://identifiers.org/clinvar/93996 ^@ NM_001918.3(DBT):c.175+37G>A http://identifiers.org/clinvar/93997 ^@ NM_001918.3(DBT):c.209C>T (p.Ser70Leu) http://identifiers.org/clinvar/93998 ^@ NM_001918.3(DBT):c.251+19dupA http://identifiers.org/clinvar/93999 ^@ NM_001918.3(DBT):c.251G>A (p.Trp84Ter) http://identifiers.org/clinvar/94000 ^@ NM_001918.3(DBT):c.272_275delCAGT (p.Thr91Serfs) http://identifiers.org/clinvar/94001 ^@ NM_001918.3(DBT):c.339_345delTTATGAT (p.Tyr114Glufs) http://identifiers.org/clinvar/94002 ^@ NM_001918.3(DBT):c.360delA (p.Lys120Asnfs) http://identifiers.org/clinvar/94003 ^@ NM_001918.3(DBT):c.51+1G>T http://identifiers.org/clinvar/94004 ^@ NM_001918.3(DBT):c.51+5G>C http://identifiers.org/clinvar/94005 ^@ NM_001918.3(DBT):c.52-27T>A http://identifiers.org/clinvar/94006 ^@ NM_001918.3(DBT):c.577G>A (p.Gly193Ser) http://identifiers.org/clinvar/94007 ^@ NM_001918.3(DBT):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/94008 ^@ NM_001918.3(DBT):c.61C>T (p.Arg21Cys) http://identifiers.org/clinvar/94009 ^@ NM_001918.3(DBT):c.670G>T (p.Glu224Ter) http://identifiers.org/clinvar/94010 ^@ NM_001918.3(DBT):c.715A>G (p.Ile239Val) http://identifiers.org/clinvar/94011 ^@ NM_001918.3(DBT):c.724T>C (p.Ser242Pro) http://identifiers.org/clinvar/94012 ^@ NM_001918.3(DBT):c.753C>T (p.Asp251=) http://identifiers.org/clinvar/94013 ^@ NM_001918.3(DBT):c.76T>C (p.Cys26Arg) http://identifiers.org/clinvar/94014 ^@ NM_001918.3(DBT):c.773-2A>G http://identifiers.org/clinvar/94015 ^@ NM_001918.3(DBT):c.871C>T (p.Arg291Ter) http://identifiers.org/clinvar/94016 ^@ NM_001918.3(DBT):c.901C>T (p.Arg301Cys) http://identifiers.org/clinvar/94017 ^@ NM_001918.3(DBT):c.939G>C (p.Lys313Asn) http://identifiers.org/clinvar/94018 ^@ NM_001985.2(ETFB):c.461C>T (p.Thr154Met) http://identifiers.org/clinvar/94019 ^@ NM_001985.2(ETFB):c.728A>C (p.Glu243Ala) http://identifiers.org/clinvar/94020 ^@ NM_001999.3(FBN2):c.203C>T (p.Ala68Val) http://identifiers.org/clinvar/94021 ^@ NM_002024.5(FMR1):c.1857C>T (p.Asp619=) http://identifiers.org/clinvar/94022 ^@ NM_002024.5(FMR1):c.271-19A>G http://identifiers.org/clinvar/94023 ^@ NM_002024.5(FMR1):c.414G>A (p.Arg138=) http://identifiers.org/clinvar/94024 ^@ NM_002024.5(FMR1):c.440A>G (p.His147Arg) http://identifiers.org/clinvar/94025 ^@ NM_002024.5(FMR1):c.990+14C>T http://identifiers.org/clinvar/94026 ^@ NM_002025.3(AFF2):c.2424C>T (p.Asp808=) http://identifiers.org/clinvar/94027 ^@ NM_002025.3(AFF2):c.3088A>C (p.Ile1030Leu) http://identifiers.org/clinvar/94028 ^@ NM_002025.3(AFF2):c.3404+7A>G http://identifiers.org/clinvar/94029 ^@ NM_002076.3(GNS):c.198G>A (p.Pro66=) http://identifiers.org/clinvar/94030 ^@ NM_002076.3(GNS):c.363G>A (p.Lys121=) http://identifiers.org/clinvar/94031 ^@ NM_002206.2(ITGA7):c.1282-11T>C http://identifiers.org/clinvar/94032 ^@ NM_002206.2(ITGA7):c.1589C>T (p.Ala530Val) http://identifiers.org/clinvar/94033 ^@ NM_002206.2(ITGA7):c.1659C>G (p.Pro553=) http://identifiers.org/clinvar/94034 ^@ NM_002206.2(ITGA7):c.1765A>C (p.Ile589Leu) http://identifiers.org/clinvar/94035 ^@ NM_002206.2(ITGA7):c.1952G>A (p.Arg651His) http://identifiers.org/clinvar/94036 ^@ NM_002206.2(ITGA7):c.1965T>C (p.Cys655=) http://identifiers.org/clinvar/94037 ^@ NM_002206.2(ITGA7):c.2004-19G>A http://identifiers.org/clinvar/94038 ^@ NM_002206.2(ITGA7):c.2087C>T (p.Ser696Leu) http://identifiers.org/clinvar/94039 ^@ NM_002206.2(ITGA7):c.2433-5G>A http://identifiers.org/clinvar/94040 ^@ NM_002206.2(ITGA7):c.2569G>A (p.Gly857Ser) http://identifiers.org/clinvar/94041 ^@ NM_002206.2(ITGA7):c.2644G>A (p.Glu882Lys) http://identifiers.org/clinvar/94042 ^@ NM_002206.2(ITGA7):c.2710C>T (p.Leu904=) http://identifiers.org/clinvar/94043 ^@ NM_002206.2(ITGA7):c.3184-12G>C http://identifiers.org/clinvar/94044 ^@ NM_002206.2(ITGA7):c.334+19A>G http://identifiers.org/clinvar/94045 ^@ NM_002206.2(ITGA7):c.415-10C>T http://identifiers.org/clinvar/94046 ^@ NM_002206.2(ITGA7):c.810G>A (p.Gly270=) http://identifiers.org/clinvar/94047 ^@ NM_002206.2(ITGA7):c.824G>A (p.Arg275His) http://identifiers.org/clinvar/94048 ^@ NM_002207.2(ITGA9):c.2667+32G>A http://identifiers.org/clinvar/94049 ^@ NM_002225.3(IVD):c.1019G>A (p.Arg340Gln) http://identifiers.org/clinvar/94050 ^@ NM_002225.3(IVD):c.1075G>A (p.Asp359Asn) http://identifiers.org/clinvar/94051 ^@ NM_002225.3(IVD):c.1141T>C (p.Cys381Arg) http://identifiers.org/clinvar/94052 ^@ NM_002225.3(IVD):c.1192C>G (p.Arg398Gly) http://identifiers.org/clinvar/94053 ^@ NM_002225.3(IVD):c.243+14T>C http://identifiers.org/clinvar/94054 ^@ NM_002225.3(IVD):c.406_407delTG (p.Cys136Hisfs) http://identifiers.org/clinvar/94055 ^@ NM_002225.3(IVD):c.465+2T>C http://identifiers.org/clinvar/94056 ^@ NM_002225.3(IVD):c.507delG (p.Glu169Aspfs) http://identifiers.org/clinvar/94057 ^@ NM_002225.3(IVD):c.732C>T (p.Asp244=) http://identifiers.org/clinvar/94058 ^@ NM_002225.3(IVD):c.900G>A (p.Ala300=) http://identifiers.org/clinvar/94059 ^@ NM_001122606.1(LAMP2):c.579_586delAACTTCAA (p.Lys193Asnfs) http://identifiers.org/clinvar/94061 ^@ NM_002397.4(MEF2C):c.585C>T (p.Asn195=) http://identifiers.org/clinvar/94062 ^@ NM_002408.3(MGAT2):c.733G>C (p.Val245Leu) http://identifiers.org/clinvar/94063 ^@ NM_002420.5(TRPM1):c.470C>T (p.Ser157Phe) http://identifiers.org/clinvar/94064 ^@ NM_002420.5(TRPM1):c.858G>A (p.Ser286=) http://identifiers.org/clinvar/94065 ^@ NM_002435.2(MPI):c.1049C>T (p.Thr350Met) http://identifiers.org/clinvar/94066 ^@ NM_002435.2(MPI):c.1131A>G (p.Val377=) http://identifiers.org/clinvar/94067 ^@ NM_002435.2(MPI):c.345+15G>A http://identifiers.org/clinvar/94068 ^@ NM_002435.2(MPI):c.345+16C>T http://identifiers.org/clinvar/94069 ^@ NM_002435.2(MPI):c.670+9A>G http://identifiers.org/clinvar/94070 ^@ NM_002435.2(MPI):c.678C>A (p.Ala226=) http://identifiers.org/clinvar/94071 ^@ NM_002435.2(MPI):c.762C>T (p.Ile254=) http://identifiers.org/clinvar/94072 ^@ NM_002435.2(MPI):c.982C>T (p.Arg328Trp) http://identifiers.org/clinvar/94073 ^@ NM_002547.2(OPHN1):c.133G>A (p.Ala45Thr) http://identifiers.org/clinvar/94074 ^@ NM_002547.2(OPHN1):c.2029C>A (p.Leu677Met) http://identifiers.org/clinvar/94075 ^@ NM_002547.2(OPHN1):c.250G>A (p.Ala84Thr) http://identifiers.org/clinvar/94076 ^@ NM_002743.3(PRKCSH):c.1513G>T (p.Glu505Ter) http://identifiers.org/clinvar/94077 ^@ NM_002743.3(PRKCSH):c.79+10_79+12delCCT http://identifiers.org/clinvar/94078 ^@ NM_002743.3(PRKCSH):c.850-14T>C http://identifiers.org/clinvar/94079 ^@ NM_002743.3(PRKCSH):c.871G>A (p.Ala291Thr) http://identifiers.org/clinvar/94080 ^@ NM_002743.3(PRKCSH):c.963_968delGGAGGA (p.Glu324_Glu325del) http://identifiers.org/clinvar/94081 ^@ NM_002743.3(PRKCSH):c.966_968delGGA (p.Glu325del) http://identifiers.org/clinvar/94082 ^@ NM_002755.3(MAP2K1):c.694-8_694-7dupTC http://identifiers.org/clinvar/94083 ^@ NM_002764.3(PRPS1):c.477C>T (p.Ile159=) http://identifiers.org/clinvar/94084 ^@ NM_002778.3(PSAP):c.1005+18C>T http://identifiers.org/clinvar/94085 ^@ NM_002778.3(PSAP):c.1351-14A>G http://identifiers.org/clinvar/94086 ^@ NM_002834.4(PTPN11):c.333-7delA http://identifiers.org/clinvar/94087 ^@ NM_002900.2(RBP3):c.1631G>A (p.Arg544His) http://identifiers.org/clinvar/94091 ^@ NM_002977.3(SCN9A):c.5717T>C (p.Ile1906Thr) http://identifiers.org/clinvar/94092 ^@ NM_002977.3(SCN9A):c.5723A>G (p.Asp1908Gly) http://identifiers.org/clinvar/94093 ^@ NM_003000.2(SDHB):c.111_112dupCC (p.Arg38Profs) http://identifiers.org/clinvar/94094 ^@ NM_003035.2(STIL):c.2951A>G (p.His984Arg) http://identifiers.org/clinvar/94095 ^@ NM_003035.2(STIL):c.3483T>C (p.Pro1161=) http://identifiers.org/clinvar/94096 ^@ NM_001048166.1(STIL):c.3714C>T (p.Phe1238=) http://identifiers.org/clinvar/94097 ^@ NM_003035.2(STIL):c.3783G>A (p.Thr1261=) http://identifiers.org/clinvar/94099 ^@ NM_003060.3(SLC22A5):c.285T>C (p.Leu95=) http://identifiers.org/clinvar/144050 ^@ NM_153334.6(SCARF2):c.190T>C (p.Cys64Arg) http://identifiers.org/clinvar/144051 ^@ NM_153334.6(SCARF2):c.2546delA (p.Gln849Argfs) http://identifiers.org/clinvar/144052 ^@ NM_001288767.1(ARMC5):c.1084C>T (p.Arg362Ter) http://identifiers.org/clinvar/144053 ^@ NM_001288767.1(ARMC5):c.2977C>T (p.Arg993Trp) http://identifiers.org/clinvar/144054 ^@ NM_001288767.1(ARMC5):c.541C>T (p.Gln181Ter) http://identifiers.org/clinvar/144055 ^@ NM_001288767.1(ARMC5):c.1928T>C (p.Leu643Pro) http://identifiers.org/clinvar/144056 ^@ ARMC5, 1-BP DEL, G http://identifiers.org/clinvar/144057 ^@ NM_001288767.1(ARMC5):c.2062C>T (p.Arg688Trp) http://identifiers.org/clinvar/144058 ^@ NM_001288767.1(ARMC5):c.1379T>C (p.Leu460Pro) http://identifiers.org/clinvar/144065 ^@ NM_145178.3(ATOH7):c.146A>T (p.Glu49Val) http://identifiers.org/clinvar/144066 ^@ NM_145178.3(ATOH7):c.53delC (p.Pro18Argfs) http://identifiers.org/clinvar/144067 ^@ NM_145178.3(ATOH7):c.136A>C (p.Asn46His) http://identifiers.org/clinvar/144068 ^@ NM_152269.4(C12orf65):c.413_417delAACAA (p.Lys138Argfs) http://identifiers.org/clinvar/144069 ^@ NM_152269.4(C12orf65):c.282+2T>A http://identifiers.org/clinvar/144073 ^@ NM_031372.3(HNRNPDL):c.1132G>A (p.Asp378Asn) http://identifiers.org/clinvar/144074 ^@ NM_031372.3(HNRNPDL):c.1132G>C (p.Asp378His) http://identifiers.org/clinvar/144075 ^@ NM_021814.4(ELOVL5):c.689G>T (p.Gly230Val) http://identifiers.org/clinvar/144076 ^@ NM_001242828.1(ELOVL5):c.214C>G (p.Leu72Val) http://identifiers.org/clinvar/144077 ^@ NM_005876.4(SPEG):c.6697C>T (p.Gln2233Ter) http://identifiers.org/clinvar/144078 ^@ NM_005876.4(SPEG):c.4276C>T (p.Arg1426Ter) http://identifiers.org/clinvar/144079 ^@ NM_005876.4(SPEG):c.3709_3715+29del36 http://identifiers.org/clinvar/144080 ^@ NM_005876.4(SPEG):c.2915_2916delCCinsA (p.Ala972Aspfs) http://identifiers.org/clinvar/144081 ^@ NM_005876.4(SPEG):c.8270G>T (p.Gly2757Val) http://identifiers.org/clinvar/144089 ^@ GRCh38/hg38 Xq28(chrX:155980375-156013167)x1 http://identifiers.org/clinvar/144093 ^@ GRCh38/hg38 20q11.21(chr20:30417576-31394018)x3 http://identifiers.org/clinvar/144095 ^@ GRCh38/hg38 Xp22.31(chrX:6539362-8064079)x3 http://identifiers.org/clinvar/144097 ^@ GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3 http://identifiers.org/clinvar/144104 ^@ NM_000372.4(TYR):c.163T>G (p.Cys55Gly) http://identifiers.org/clinvar/144105 ^@ NM_000372.4(TYR):c.551C>G (p.Ser184Ter) http://identifiers.org/clinvar/144106 ^@ NM_000372.4(TYR):c.739T>C (p.Cys247Arg) http://identifiers.org/clinvar/144107 ^@ NM_005559.3(LAMA1):c.588+2T>G http://identifiers.org/clinvar/144108 ^@ NM_005559.3(LAMA1):c.7965-15_7965-3del http://identifiers.org/clinvar/144109 ^@ NM_005559.3(LAMA1):c.2986delA (p.Thr996Hisfs) http://identifiers.org/clinvar/144110 ^@ NM_005559.3(LAMA1):c.2816_2817delAT (p.Tyr939Leufs) http://identifiers.org/clinvar/144111 ^@ NM_005559.3(LAMA1):c.555T>G (p.Tyr185Ter) http://identifiers.org/clinvar/144112 ^@ NM_019105.6(TNXB):c.12214C>T (p.Arg4072Cys) http://identifiers.org/clinvar/144113 ^@ NM_019105.6(TNXB):c.9764C>T (p.Thr3255Ile) http://identifiers.org/clinvar/144114 ^@ NM_019105.6(TNXB):c.3991G>A (p.Gly1331Arg) http://identifiers.org/clinvar/144120 ^@ GRCh38/hg38 Xq28(chrX:156001591-156022206)x1 http://identifiers.org/clinvar/144121 ^@ GRCh38/hg38 Xp11.23(chrX:47820327-48344725)x3 http://identifiers.org/clinvar/144122 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 http://identifiers.org/clinvar/144123 ^@ GRCh38/hg38 Xq28(chrX:154984506-155098444)x1 http://identifiers.org/clinvar/144124 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8082609)x3 http://identifiers.org/clinvar/144125 ^@ GRCh38/hg38 2q13(chr2:110104900-110207160)x1 http://identifiers.org/clinvar/144126 ^@ GRCh38/hg38 Xq28(chrX:155678751-155951918)x1 http://identifiers.org/clinvar/144127 ^@ GRCh38/hg38 Xq28(chrX:155998122-156022206)x1 http://identifiers.org/clinvar/144128 ^@ GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x3 http://identifiers.org/clinvar/144129 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1 http://identifiers.org/clinvar/144131 ^@ GRCh38/hg38 Xp11.4(chrX:38631752-38769503)x3 http://identifiers.org/clinvar/144132 ^@ GRCh38/hg38 Xq28(chrX:152789896-153047281)x3 http://identifiers.org/clinvar/144133 ^@ GRCh38/hg38 7q21.13(chr7:89030468-89447599)x1 http://identifiers.org/clinvar/144134 ^@ GRCh38/hg38 16p13.3(chr16:46766-80410)x1 http://identifiers.org/clinvar/144135 ^@ GRCh38/hg38 1q42.2(chr1:230749331-231192557)x1 http://identifiers.org/clinvar/144136 ^@ GRCh38/hg38 14q32.33(chr14:106614548-106714110)x3 http://identifiers.org/clinvar/144137 ^@ GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 http://identifiers.org/clinvar/144138 ^@ GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 http://identifiers.org/clinvar/144139 ^@ GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 http://identifiers.org/clinvar/144140 ^@ GRCh38/hg38 11q25(chr11:134841719-134946426)x3 http://identifiers.org/clinvar/144141 ^@ GRCh38/hg38 6p25.3(chr6:1580446-1951292)x1 http://identifiers.org/clinvar/144142 ^@ GRCh38/hg38 7q11.22(chr7:71957575-72338645)x1 http://identifiers.org/clinvar/144143 ^@ GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 http://identifiers.org/clinvar/144144 ^@ GRCh38/hg38 11p15.5(chr11:196966-244236)x3 http://identifiers.org/clinvar/144145 ^@ GRCh38/hg38 2p25.3(chr2:153031-252990)x3 http://identifiers.org/clinvar/144146 ^@ GRCh38/hg38 10q26.3(chr10:133503306-133620674)x3 http://identifiers.org/clinvar/144147 ^@ GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1 http://identifiers.org/clinvar/144148 ^@ GRCh38/hg38 5q13.2(chr5:70436365-71291191)x3 http://identifiers.org/clinvar/144149 ^@ GRCh38/hg38 8p23.1(chr8:7022782-8222398)x3 http://identifiers.org/clinvar/144150 ^@ GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 http://identifiers.org/clinvar/144151 ^@ GRCh38/hg38 2q21.1(chr2:130743933-131340280)x3 http://identifiers.org/clinvar/144152 ^@ GRCh38/hg38 10q26.3(chr10:133538868-133564028)x1 http://identifiers.org/clinvar/144153 ^@ GRCh38/hg38 1p36.32(chr1:2701929-3244518)x3 http://identifiers.org/clinvar/144154 ^@ GRCh38/hg38 4q28.3(chr4:135777053-136498845)x3 http://identifiers.org/clinvar/144155 ^@ GRCh38/hg38 4p16.3(chr4:153787-191636)x1 http://identifiers.org/clinvar/144156 ^@ GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 http://identifiers.org/clinvar/144157 ^@ GRCh38/hg38 2p16.3(chr2:50999032-51329577)x1 http://identifiers.org/clinvar/144158 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 http://identifiers.org/clinvar/144159 ^@ GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1 http://identifiers.org/clinvar/144160 ^@ GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 http://identifiers.org/clinvar/144161 ^@ GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 http://identifiers.org/clinvar/144162 ^@ GRCh38/hg38 20q13.33(chr20:64197187-64277321)x3 http://identifiers.org/clinvar/144163 ^@ GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 http://identifiers.org/clinvar/144164 ^@ GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 http://identifiers.org/clinvar/144165 ^@ GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1 http://identifiers.org/clinvar/144166 ^@ GRCh38/hg38 2p16.3(chr2:50453657-50665768)x1 http://identifiers.org/clinvar/144167 ^@ GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1 http://identifiers.org/clinvar/144168 ^@ GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 http://identifiers.org/clinvar/144169 ^@ GRCh38/hg38 3p21.2(chr3:50818845-51207727)x3 http://identifiers.org/clinvar/144170 ^@ GRCh38/hg38 2q22.3(chr2:144434699-146191493)x1 http://identifiers.org/clinvar/144171 ^@ GRCh38/hg38 9q34.3(chr9:137862611-138059695)x3 http://identifiers.org/clinvar/144172 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 http://identifiers.org/clinvar/144173 ^@ GRCh38/hg38 4p16.3(chr4:72555-191636)x3 http://identifiers.org/clinvar/144174 ^@ GRCh38/hg38 5p15.33(chr5:710379-889902)x1 http://identifiers.org/clinvar/144175 ^@ GRCh38/hg38 1p36.32(chr1:3712088-4027367)x4 http://identifiers.org/clinvar/144176 ^@ GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 http://identifiers.org/clinvar/144177 ^@ GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 http://identifiers.org/clinvar/144178 ^@ GRCh38/hg38 8p23.1(chr8:7195664-8222398)x3 http://identifiers.org/clinvar/144179 ^@ GRCh37/hg19 17q12(chr17:34450405-36248918)x1 http://identifiers.org/clinvar/144180 ^@ GRCh38/hg38 9q33.1(chr9:115444033-116039898)x3 http://identifiers.org/clinvar/144181 ^@ GRCh38/hg38 14q32.33(chr14:106623987-106678844)x1 http://identifiers.org/clinvar/144182 ^@ GRCh38/hg38 6p25.3(chr6:283968-339802)x1 http://identifiers.org/clinvar/144183 ^@ GRCh38/hg38 7p22.3(chr7:54185-170425)x3 http://identifiers.org/clinvar/144184 ^@ GRCh38/hg38 8p23.1(chr8:7195664-7834438)x1 http://identifiers.org/clinvar/144185 ^@ GRCh38/hg38 4q35.2(chr4:188782039-188993073)x3 http://identifiers.org/clinvar/144186 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71291191)x3 http://identifiers.org/clinvar/144187 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/144188 ^@ GRCh38/hg38 Xq28(chrX:155951870-156022206)x1 http://identifiers.org/clinvar/144189 ^@ GRCh38/hg38 2p25.3(chr2:84669-206271)x1 http://identifiers.org/clinvar/144190 ^@ GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x3 http://identifiers.org/clinvar/144191 ^@ GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x0 http://identifiers.org/clinvar/144192 ^@ GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 http://identifiers.org/clinvar/144193 ^@ GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 http://identifiers.org/clinvar/144194 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 http://identifiers.org/clinvar/144195 ^@ GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 http://identifiers.org/clinvar/144196 ^@ GRCh38/hg38 18q23(chr18:77263709-80252149)x1 http://identifiers.org/clinvar/144197 ^@ GRCh38/hg38 6p25.3(chr6:266079-339802)x1 http://identifiers.org/clinvar/144198 ^@ GRCh38/hg38 8p23.1(chr8:7514108-8222398)x1 http://identifiers.org/clinvar/144199 ^@ GRCh38/hg38 4p16.1(chr4:7580779-8153342)x3 http://identifiers.org/clinvar/144200 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 http://identifiers.org/clinvar/144201 ^@ GRCh38/hg38 9q33.1(chr9:116657193-116814307)x1 http://identifiers.org/clinvar/144202 ^@ GRCh38/hg38 15q21.1(chr15:48436038-48501606)x3 http://identifiers.org/clinvar/144203 ^@ GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 http://identifiers.org/clinvar/144204 ^@ GRCh38/hg38 4p16.3(chr4:51519-113701)x3 http://identifiers.org/clinvar/144205 ^@ GRCh38/hg38 14q23.1(chr14:60401009-60861986)x3 http://identifiers.org/clinvar/144206 ^@ GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 http://identifiers.org/clinvar/144207 ^@ GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 http://identifiers.org/clinvar/144208 ^@ GRCh38/hg38 9q33.3(chr9:126517522-126646975)x3 http://identifiers.org/clinvar/144209 ^@ GRCh38/hg38 11q21(chr11:96607634-96937648)x1 http://identifiers.org/clinvar/144210 ^@ GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3 http://identifiers.org/clinvar/144211 ^@ GRCh38/hg38 13q12.11(chr13:20234405-20504774)x1 http://identifiers.org/clinvar/144212 ^@ GRCh38/hg38 4q25(chr4:110818535-111610698)x1 http://identifiers.org/clinvar/144213 ^@ GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 http://identifiers.org/clinvar/144214 ^@ GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 http://identifiers.org/clinvar/144215 ^@ GRCh38/hg38 5p15.33(chr5:22149-83159)x3 http://identifiers.org/clinvar/144216 ^@ GRCh38/hg38 Xq21.1(chrX:77768771-77928775)x3 http://identifiers.org/clinvar/144217 ^@ GRCh38/hg38 12q12(chr12:41782886-42950380)x1 http://identifiers.org/clinvar/144218 ^@ GRCh38/hg38 8p23.1(chr8:7195664-8273167)x1 http://identifiers.org/clinvar/144219 ^@ GRCh38/hg38 10p15.3(chr10:202524-405073)x3 http://identifiers.org/clinvar/144220 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133591019)x3 http://identifiers.org/clinvar/144221 ^@ GRCh38/hg38 4p15.1(chr4:31101685-31644046)x3 http://identifiers.org/clinvar/144222 ^@ GRCh38/hg38 2p25.3(chr2:30341-84728)x3 http://identifiers.org/clinvar/144223 ^@ GRCh38/hg38 22q11.21(chr22:18178957-18997006)x3 http://identifiers.org/clinvar/144224 ^@ GRCh38/hg38 8p23.1(chr8:11901356-12610034)x1 http://identifiers.org/clinvar/144225 ^@ GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 http://identifiers.org/clinvar/144226 ^@ GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 http://identifiers.org/clinvar/144228 ^@ GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 http://identifiers.org/clinvar/144229 ^@ GRCh38/hg38 3q29(chr3:198024682-198110178)x3 http://identifiers.org/clinvar/144230 ^@ GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1 http://identifiers.org/clinvar/144231 ^@ GRCh38/hg38 5p15.33(chr5:220313-470506)x3 http://identifiers.org/clinvar/144232 ^@ GRCh38/hg38 Xq27.1(chrX:139698609-140201321)x3 http://identifiers.org/clinvar/144233 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6973011-7595580)x3 http://identifiers.org/clinvar/144234 ^@ GRCh38/hg38 5p15.33(chr5:49978-83159)x3 http://identifiers.org/clinvar/144235 ^@ GRCh38/hg38 Xq23(chrX:111294396-111417260)x3 http://identifiers.org/clinvar/144236 ^@ GRCh38/hg38 8p23.1(chr8:7022782-7895064)x1 http://identifiers.org/clinvar/144237 ^@ GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1 http://identifiers.org/clinvar/144238 ^@ GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 http://identifiers.org/clinvar/144239 ^@ GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 http://identifiers.org/clinvar/144240 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23107440)x3 http://identifiers.org/clinvar/144241 ^@ GRCh38/hg38 17p13.3(chr17:266752-291920)x1 http://identifiers.org/clinvar/144242 ^@ GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1 http://identifiers.org/clinvar/144243 ^@ GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 http://identifiers.org/clinvar/144244 ^@ GRCh38/hg38 19q13.43(chr19:58548841-58581203)x3 http://identifiers.org/clinvar/144245 ^@ GRCh38/hg38 8q24.3(chr8:144925972-145054634)x1 http://identifiers.org/clinvar/144246 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 http://identifiers.org/clinvar/144247 ^@ GRCh38/hg38 1p31.1(chr1:78680456-79387797)x1 http://identifiers.org/clinvar/144248 ^@ GRCh38/hg38 7q21.13(chr7:88563550-90066568)x3 http://identifiers.org/clinvar/144249 ^@ GRCh38/hg38 19q13.31(chr19:43025649-43237158)x3 http://identifiers.org/clinvar/144250 ^@ GRCh38/hg38 Yq11.221(chrY:15445716-16977713)x3 http://identifiers.org/clinvar/144251 ^@ GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 http://identifiers.org/clinvar/144252 ^@ GRCh38/hg38 7q33(chr7:133427347-133930321)x1 http://identifiers.org/clinvar/144253 ^@ GRCh38/hg38 Xp22.33-22.32(chrX:4082541-4781390)x3 http://identifiers.org/clinvar/144254 ^@ GRCh38/hg38 5p15.33(chr5:71789-113770)x3 http://identifiers.org/clinvar/144255 ^@ GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1 http://identifiers.org/clinvar/144256 ^@ GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 http://identifiers.org/clinvar/144257 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71090773)x3 http://identifiers.org/clinvar/144258 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1 http://identifiers.org/clinvar/144259 ^@ GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1 http://identifiers.org/clinvar/144260 ^@ GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3 http://identifiers.org/clinvar/144261 ^@ GRCh38/hg38 3p26.3(chr3:190813-1155998)x1 http://identifiers.org/clinvar/144262 ^@ GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 http://identifiers.org/clinvar/144263 ^@ GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 http://identifiers.org/clinvar/144264 ^@ GRCh38/hg38 9p22.2-22.1(chr9:18243674-19009772)x3 http://identifiers.org/clinvar/144265 ^@ GRCh38/hg38 13q33.1(chr13:103287991-103821144)x3 http://identifiers.org/clinvar/144266 ^@ GRCh38/hg38 15q26.3(chr15:101621277-101708810)x3 http://identifiers.org/clinvar/144267 ^@ GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1 http://identifiers.org/clinvar/144268 ^@ GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 http://identifiers.org/clinvar/144269 ^@ GRCh38/hg38 4p16.3(chr4:36424-68319)x1 http://identifiers.org/clinvar/144270 ^@ GRCh38/hg38 8p23.1(chr8:7311968-8237251)x1 http://identifiers.org/clinvar/144271 ^@ GRCh38/hg38 1p21.3(chr1:96800847-97758063)x1 http://identifiers.org/clinvar/144272 ^@ GRCh38/hg38 8p23.1(chr8:7187864-8222390)x1 http://identifiers.org/clinvar/144273 ^@ GRCh38/hg38 Xp22.31(chrX:6535031-7841300)x3 http://identifiers.org/clinvar/144274 ^@ GRCh38/hg38 Xq28(chrX:149209021-149681127)x3 http://identifiers.org/clinvar/144275 ^@ GRCh38/hg38 Xp22.33-22.32(chrX:2963899-5016927)x3 http://identifiers.org/clinvar/144276 ^@ GRCh38/hg38 2q37.3(chr2:241770998-241996090)x1 http://identifiers.org/clinvar/144277 ^@ GRCh38/hg38 6p25.3(chr6:229815-293493)x1 http://identifiers.org/clinvar/144278 ^@ GRCh38/hg38 2p21(chr2:44942723-45431847)x3 http://identifiers.org/clinvar/144279 ^@ GRCh38/hg38 10q26.3(chr10:131457361-131922234)x3 http://identifiers.org/clinvar/144280 ^@ GRCh38/hg38 17p13.2(chr17:4087381-4265640)x3 http://identifiers.org/clinvar/144281 ^@ GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 http://identifiers.org/clinvar/144282 ^@ GRCh38/hg38 3q11.1-11.2(chr3:93856441-94708419)x3 http://identifiers.org/clinvar/144283 ^@ GRCh38/hg38 Xq11.2(chrX:65043676-65305544)x2 http://identifiers.org/clinvar/144284 ^@ GRCh38/hg38 8q24.22(chr8:131149372-131527501)x3 http://identifiers.org/clinvar/144285 ^@ GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3 http://identifiers.org/clinvar/144286 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 http://identifiers.org/clinvar/144287 ^@ GRCh38/hg38 5p14.1(chr5:25801575-27125347)x3 http://identifiers.org/clinvar/144288 ^@ GRCh38/hg38 Xq26.2-26.3(chrX:134476312-134805554)x3 http://identifiers.org/clinvar/144289 ^@ GRCh38/hg38 15q11.2(chr15:23411789-23579036)x3 http://identifiers.org/clinvar/144290 ^@ GRCh38/hg38 2q13(chr2:109623720-110207160)x1 http://identifiers.org/clinvar/144291 ^@ GRCh38/hg38 8p23.3(chr8:241530-451413)x3 http://identifiers.org/clinvar/144292 ^@ GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 http://identifiers.org/clinvar/144293 ^@ GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3 http://identifiers.org/clinvar/144294 ^@ GRCh38/hg38 9p24.3(chr9:245823-295405)x3 http://identifiers.org/clinvar/144295 ^@ GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1 http://identifiers.org/clinvar/144296 ^@ GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 http://identifiers.org/clinvar/144297 ^@ GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 http://identifiers.org/clinvar/144298 ^@ GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 http://identifiers.org/clinvar/144299 ^@ GRCh38/hg38 7q36.3(chr7:158671461-159127509)x3 http://identifiers.org/clinvar/144300 ^@ GRCh38/hg38 15q26.3(chr15:101621277-101666176)x3 http://identifiers.org/clinvar/144301 ^@ GRCh38/hg38 1q44(chr1:247613108-248093562)x3 http://identifiers.org/clinvar/144302 ^@ GRCh38/hg38 Xq28(chrX:155745005-155978689)x0 http://identifiers.org/clinvar/144303 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 http://identifiers.org/clinvar/144304 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 http://identifiers.org/clinvar/144305 ^@ GRCh38/hg38 17p13.3(chr17:198748-1920952)x1 http://identifiers.org/clinvar/144306 ^@ GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 http://identifiers.org/clinvar/144307 ^@ GRCh38/hg38 8q21.13-21.2(chr8:82418805-83524114)x1 http://identifiers.org/clinvar/144308 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x1 http://identifiers.org/clinvar/144309 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) http://identifiers.org/clinvar/144310 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 http://identifiers.org/clinvar/144311 ^@ GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3 http://identifiers.org/clinvar/144312 ^@ GRCh38/hg38 8q11.1-11.21(chr8:47142202-47673614)x3 http://identifiers.org/clinvar/144313 ^@ GRCh38/hg38 3q29(chr3:196536193-196741662)x3 http://identifiers.org/clinvar/144314 ^@ GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 http://identifiers.org/clinvar/144315 ^@ GRCh38/hg38 20q13.33(chr20:64130783-64277321)x3 http://identifiers.org/clinvar/144316 ^@ GRCh38/hg38 18q21.2(chr18:53449588-54104212)x1 http://identifiers.org/clinvar/144317 ^@ GRCh38/hg38 2q24.3(chr2:167363813-167881476)x3 http://identifiers.org/clinvar/144318 ^@ GRCh38/hg38 18p11.21(chr18:12159446-12739785) http://identifiers.org/clinvar/144319 ^@ GRCh38/hg38 3q27.2(chr3:185506271-185977882)x1 http://identifiers.org/clinvar/144320 ^@ GRCh38/hg38 20p11.21(chr20:23455996-24050737)x3 http://identifiers.org/clinvar/144321 ^@ GRCh38/hg38 Xp22.31(chrX:8588208-8752717)x3 http://identifiers.org/clinvar/144322 ^@ GRCh38/hg38 14q32.33(chr14:105987551-106318409)x1 http://identifiers.org/clinvar/144323 ^@ GRCh38/hg38 8p23.1(chr8:7411297-8429785)x1 http://identifiers.org/clinvar/144324 ^@ GRCh38/hg38 17q21.31(chr17:46273727-46661960)x1 http://identifiers.org/clinvar/144325 ^@ GRCh38/hg38 Xp21.1(chrX:32932236-34171724)x2 http://identifiers.org/clinvar/144326 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133554218)x3 http://identifiers.org/clinvar/144327 ^@ GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 http://identifiers.org/clinvar/144328 ^@ GRCh38/hg38 1q21.1(chr1:145619023-145779087)x1 http://identifiers.org/clinvar/144329 ^@ GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 http://identifiers.org/clinvar/144330 ^@ GRCh38/hg38 15q11.2(chr15:24823779-24829799)x1 http://identifiers.org/clinvar/144331 ^@ GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1 http://identifiers.org/clinvar/144332 ^@ GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 http://identifiers.org/clinvar/144333 ^@ GRCh38/hg38 4q25(chr4:107398371-107562376)x3 http://identifiers.org/clinvar/144334 ^@ GRCh38/hg38 4q25(chr4:108142667-108611794)x3 http://identifiers.org/clinvar/144335 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 http://identifiers.org/clinvar/144336 ^@ GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 http://identifiers.org/clinvar/144337 ^@ GRCh38/hg38 Xp21.1(chrX:32501716-32932295)x3 http://identifiers.org/clinvar/144338 ^@ GRCh38/hg38 2q22.3(chr2:145847299-146822192)x3 http://identifiers.org/clinvar/144339 ^@ GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1 http://identifiers.org/clinvar/144340 ^@ GRCh37/hg19 1q21.2(chr1:149091130-149699420)x1 http://identifiers.org/clinvar/144341 ^@ GRCh38/hg38 16p13.3(chr16:180542-181197)x1 http://identifiers.org/clinvar/144342 ^@ GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 http://identifiers.org/clinvar/144343 ^@ GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 http://identifiers.org/clinvar/144344 ^@ GRCh38/hg38 3p26.3(chr3:401550-1091944)x3 http://identifiers.org/clinvar/144345 ^@ GRCh38/hg38 2q13(chr2:110025659-110207160)x3 http://identifiers.org/clinvar/144346 ^@ GRCh38/hg38 1p13.3(chr1:107456821-108010045)x3 http://identifiers.org/clinvar/144347 ^@ GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 http://identifiers.org/clinvar/144348 ^@ GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1 http://identifiers.org/clinvar/144349 ^@ GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 http://identifiers.org/clinvar/144350 ^@ GRCh38/hg38 Xq28(chrX:154931352-155331063)x1 http://identifiers.org/clinvar/144351 ^@ GRCh38/hg38 14q32.33(chr14:106112755-106396261)x3 http://identifiers.org/clinvar/144352 ^@ GRCh38/hg38 5p15.33(chr5:629340-820360)x3 http://identifiers.org/clinvar/144353 ^@ GRCh38/hg38 16p12.1(chr16:26485169-27400746)x3 http://identifiers.org/clinvar/144354 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/144355 ^@ GRCh38/hg38 9p24.3(chr9:239426-315028)x3 http://identifiers.org/clinvar/144356 ^@ GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 http://identifiers.org/clinvar/144357 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3 http://identifiers.org/clinvar/144358 ^@ GRCh38/hg38 2p11.2(chr2:87148954-87961277)x3 http://identifiers.org/clinvar/144359 ^@ GRCh38/hg38 9p24.3(chr9:220253-332515)x3 http://identifiers.org/clinvar/144360 ^@ GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 http://identifiers.org/clinvar/144361 ^@ GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3 http://identifiers.org/clinvar/144362 ^@ GRCh38/hg38 Yq11.222(chrY:17307218-18891526)x2 http://identifiers.org/clinvar/144363 ^@ GRCh38/hg38 3q25.32(chr3:158974864-159234991)x1 http://identifiers.org/clinvar/144364 ^@ GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 http://identifiers.org/clinvar/144365 ^@ GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 http://identifiers.org/clinvar/144366 ^@ GRCh38/hg38 Xp21.2-21.1(chrX:31431098-31525874)x0 http://identifiers.org/clinvar/144367 ^@ GRCh38/hg38 1p36.32(chr1:2701929-3319395)x1 http://identifiers.org/clinvar/144368 ^@ GRCh38/hg38 8q24.3(chr8:144968516-144992844)x1 http://identifiers.org/clinvar/144369 ^@ GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1 http://identifiers.org/clinvar/144370 ^@ GRCh38/hg38 7q31.1(chr7:111693844-112335449)x3 http://identifiers.org/clinvar/144371 ^@ GRCh38/hg38 7q36.3(chr7:158858318-159135526)x3 http://identifiers.org/clinvar/144372 ^@ GRCh37/hg19 1q21.2(chr1:149041013-149768855)x1 http://identifiers.org/clinvar/144373 ^@ GRCh38/hg38 12p13.33(chr12:465561-726258)x3 http://identifiers.org/clinvar/144374 ^@ GRCh38/hg38 16p13.3(chr16:64296-135757)x3 http://identifiers.org/clinvar/144375 ^@ GRCh38/hg38 6p21.1(chr6:45540582-45558590)x1 http://identifiers.org/clinvar/144376 ^@ GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 http://identifiers.org/clinvar/144377 ^@ GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 http://identifiers.org/clinvar/144378 ^@ GRCh38/hg38 1q44(chr1:244988599-245502219)x3 http://identifiers.org/clinvar/144379 ^@ GRCh38/hg38 14q31.3(chr14:87746480-88540154)x3 http://identifiers.org/clinvar/144380 ^@ GRCh38/hg38 12p13.33(chr12:121255-260026)x3 http://identifiers.org/clinvar/144381 ^@ GRCh38/hg38 4q22.1(chr4:90832487-91319431)x3 http://identifiers.org/clinvar/144382 ^@ GRCh38/hg38 1q44(chr1:245312815-248918469)x3 http://identifiers.org/clinvar/144383 ^@ GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 http://identifiers.org/clinvar/144384 ^@ GRCh38/hg38 Xp22.31(chrX:7614505-8129470)x2 http://identifiers.org/clinvar/144385 ^@ GRCh38/hg38 6p25.3(chr6:221768-339802)x1 http://identifiers.org/clinvar/144386 ^@ GRCh38/hg38 Xq21.1(chrX:81519271-82586454)x2 http://identifiers.org/clinvar/144387 ^@ GRCh38/hg38 10q23.1(chr10:82118851-83897652)x3 http://identifiers.org/clinvar/144388 ^@ GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0 http://identifiers.org/clinvar/144389 ^@ GRCh38/hg38 11q25(chr11:134430682-134841778)x3 http://identifiers.org/clinvar/144390 ^@ GRCh38/hg38 7q35(chr7:143735739-144254897)x3 http://identifiers.org/clinvar/144391 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 http://identifiers.org/clinvar/144392 ^@ GRCh38/hg38 9p23(chr9:10527668-13276053)x3 http://identifiers.org/clinvar/144393 ^@ GRCh38/hg38 8p23.3(chr8:410369-478189)x3 http://identifiers.org/clinvar/144394 ^@ GRCh38/hg38 5p13.2(chr5:34001923-34715944)x3 http://identifiers.org/clinvar/144395 ^@ GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3 http://identifiers.org/clinvar/144396 ^@ GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3 http://identifiers.org/clinvar/144397 ^@ GRCh38/hg38 8p23.1(chr8:7311968-8222398)x1 http://identifiers.org/clinvar/144398 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 http://identifiers.org/clinvar/144399 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 http://identifiers.org/clinvar/144400 ^@ GRCh38/hg38 5q13.2(chr5:70547802-71291191)x1 http://identifiers.org/clinvar/144401 ^@ GRCh38/hg38 2q37.3(chr2:241981907-242005889)x1 http://identifiers.org/clinvar/144402 ^@ GRCh38/hg38 8p23.1(chr8:7381969-7895064)x3 http://identifiers.org/clinvar/144403 ^@ GRCh38/hg38 8p23.1(chr8:7381969-7895064)x1 http://identifiers.org/clinvar/144404 ^@ GRCh38/hg38 6p25.3(chr6:255350-283860)x3 http://identifiers.org/clinvar/144405 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 http://identifiers.org/clinvar/144406 ^@ GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 http://identifiers.org/clinvar/144407 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 http://identifiers.org/clinvar/144408 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/144409 ^@ GRCh38/hg38 2q37.3(chr2:241914437-242065208)x3 http://identifiers.org/clinvar/144410 ^@ GRCh38/hg38 2q37.3(chr2:241914437-242065208)x1 http://identifiers.org/clinvar/144411 ^@ GRCh38/hg38 8p23.1(chr8:7311968-7948707)x3 http://identifiers.org/clinvar/144412 ^@ GRCh38/hg38 8p23.1(chr8:7311968-7948707)x1 http://identifiers.org/clinvar/144413 ^@ GRCh38/hg38 6p25.3(chr6:259318-339802)x3 http://identifiers.org/clinvar/144414 ^@ GRCh38/hg38 6p25.3(chr6:259318-339802)x1 http://identifiers.org/clinvar/144415 ^@ GRCh38/hg38 10p12.2-12.1(chr10:24111341-25350640)x1 http://identifiers.org/clinvar/144416 ^@ GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 http://identifiers.org/clinvar/144417 ^@ GRCh38/hg38 6p25.3(chr6:259318-293615)x3 http://identifiers.org/clinvar/144418 ^@ GRCh38/hg38 6p25.3(chr6:259318-293615)x1 http://identifiers.org/clinvar/144419 ^@ GRCh38/hg38 6p25.3(chr6:259318-301907)x3 http://identifiers.org/clinvar/144420 ^@ GRCh38/hg38 3q29(chr3:197941928-198110178)x3 http://identifiers.org/clinvar/144421 ^@ GRCh38/hg38 9p24.3(chr9:207437-416351)x3 http://identifiers.org/clinvar/144422 ^@ GRCh38/hg38 Xq22.2(chrX:103778816-104033500)x3 http://identifiers.org/clinvar/144423 ^@ GRCh38/hg38 20p13(chr20:80106-170967)x3 http://identifiers.org/clinvar/144424 ^@ GRCh38/hg38 5q13.2(chr5:69942850-70951975)x3 http://identifiers.org/clinvar/144425 ^@ GRCh38/hg38 5q13.2(chr5:69942850-70951975)x1 http://identifiers.org/clinvar/144426 ^@ GRCh38/hg38 2q13(chr2:110104900-110321480)x1 http://identifiers.org/clinvar/144427 ^@ GRCh38/hg38 15q13.3(chr15:31772797-32217725)x3 http://identifiers.org/clinvar/144428 ^@ GRCh38/hg38 8p23.1(chr8:7195664-7948707)x1 http://identifiers.org/clinvar/144429 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 http://identifiers.org/clinvar/144430 ^@ GRCh38/hg38 3p26.1(chr3:5480153-6021420)x3 http://identifiers.org/clinvar/144431 ^@ GRCh38/hg38 10q11.22(chr10:46154949-46706745)x3 http://identifiers.org/clinvar/144432 ^@ GRCh38/hg38 10q11.22(chr10:46154949-46706745)x1 http://identifiers.org/clinvar/144433 ^@ GRCh38/hg38 17p13.2(chr17:3637097-3657852)x1 http://identifiers.org/clinvar/144434 ^@ GRCh38/hg38 8p23.1(chr8:7311968-7834438)x3 http://identifiers.org/clinvar/144435 ^@ GRCh38/hg38 8p23.1(chr8:7311968-7834438)x1 http://identifiers.org/clinvar/144436 ^@ GRCh38/hg38 8p23.1(chr8:7311968-7546159)x3 http://identifiers.org/clinvar/144437 ^@ GRCh38/hg38 14q32.33(chr14:106692722-106774419)x3 http://identifiers.org/clinvar/144438 ^@ GRCh38/hg38 14q32.33(chr14:106692722-106774419)x1 http://identifiers.org/clinvar/144439 ^@ GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1 http://identifiers.org/clinvar/144440 ^@ GRCh38/hg38 4p16.3(chr4:37125-75813)x1 http://identifiers.org/clinvar/144441 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 http://identifiers.org/clinvar/144442 ^@ GRCh38/hg38 8p23.1(chr8:7546100-7948707)x1 http://identifiers.org/clinvar/144443 ^@ GRCh38/hg38 6p25.3(chr6:259318-289174)x3 http://identifiers.org/clinvar/144444 ^@ GRCh38/hg38 6p25.3(chr6:259318-289174)x1 http://identifiers.org/clinvar/144445 ^@ GRCh38/hg38 10q26.3(chr10:133465763-133556331)x3 http://identifiers.org/clinvar/144446 ^@ GRCh38/hg38 16p11.2(chr16:32055646-32562546)x1 http://identifiers.org/clinvar/144447 ^@ GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 http://identifiers.org/clinvar/144448 ^@ GRCh38/hg38 6p25.3(chr6:279208-293497)x3 http://identifiers.org/clinvar/144449 ^@ GRCh38/hg38 6p25.3(chr6:279208-293497)x1 http://identifiers.org/clinvar/144450 ^@ GRCh38/hg38 9p24.3(chr9:204090-639077)x3 http://identifiers.org/clinvar/144451 ^@ GRCh38/hg38 6p25.3(chr6:259531-389436)x3 http://identifiers.org/clinvar/144452 ^@ GRCh38/hg38 6p25.3(chr6:259531-301899)x3 http://identifiers.org/clinvar/144453 ^@ GRCh38/hg38 6p25.3(chr6:259531-301899)x1 http://identifiers.org/clinvar/144454 ^@ GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3 http://identifiers.org/clinvar/144455 ^@ GRCh38/hg38 16p11.2(chr16:32055646-33663093)x1 http://identifiers.org/clinvar/144456 ^@ GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1 http://identifiers.org/clinvar/144457 ^@ GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1 http://identifiers.org/clinvar/144458 ^@ GRCh38/hg38 8p23.1(chr8:7381969-7948707)x3 http://identifiers.org/clinvar/144459 ^@ GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 http://identifiers.org/clinvar/144460 ^@ GRCh38/hg38 2q37.3(chr2:241914437-242126245)x1 http://identifiers.org/clinvar/144461 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 http://identifiers.org/clinvar/144462 ^@ GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 http://identifiers.org/clinvar/144463 ^@ GRCh38/hg38 Xp22.33(chrX:825835-1418665)x3 http://identifiers.org/clinvar/144464 ^@ GRCh38/hg38 Xp11.22(chrX:50653976-50865326)x3 http://identifiers.org/clinvar/144465 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 http://identifiers.org/clinvar/144466 ^@ GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1 http://identifiers.org/clinvar/144467 ^@ GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3 http://identifiers.org/clinvar/144468 ^@ GRCh38/hg38 6p25.3(chr6:259318-283860)x3 http://identifiers.org/clinvar/144469 ^@ GRCh38/hg38 Xq22.2(chrX:103350804-104033500)x2 http://identifiers.org/clinvar/144470 ^@ GRCh38/hg38 3p26.3(chr3:2127467-2467110)x1 http://identifiers.org/clinvar/144471 ^@ GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 http://identifiers.org/clinvar/144472 ^@ GRCh38/hg38 6p25.3(chr6:296674-339802)x1 http://identifiers.org/clinvar/144473 ^@ GRCh38/hg38 6p25.3(chr6:296674-339802)x3 http://identifiers.org/clinvar/144474 ^@ GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3 http://identifiers.org/clinvar/144475 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147035964-148352079)x3 http://identifiers.org/clinvar/144476 ^@ GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1 http://identifiers.org/clinvar/144477 ^@ GRCh38/hg38 21q21.2(chr21:23855254-24388355)x1 http://identifiers.org/clinvar/144478 ^@ GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 http://identifiers.org/clinvar/144479 ^@ GRCh38/hg38 3q29(chr3:197990647-198110178)x3 http://identifiers.org/clinvar/144480 ^@ GRCh38/hg38 10q11.22(chr10:46146977-46737090)x3 http://identifiers.org/clinvar/144481 ^@ GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1 http://identifiers.org/clinvar/144482 ^@ GRCh38/hg38 6p25.3(chr6:259318-307998)x1 http://identifiers.org/clinvar/144483 ^@ GRCh38/hg38 8p23.1(chr8:7381969-8273167)x1 http://identifiers.org/clinvar/144484 ^@ GRCh38/hg38 14q32.33(chr14:106692722-106777273)x3 http://identifiers.org/clinvar/144485 ^@ GRCh38/hg38 2q37.3(chr2:241947674-242005889)x1 http://identifiers.org/clinvar/144486 ^@ GRCh38/hg38 14q32.33(chr14:106781594-106806657)x1 http://identifiers.org/clinvar/144487 ^@ GRCh38/hg38 6p25.3(chr6:259318-296733)x3 http://identifiers.org/clinvar/144488 ^@ GRCh38/hg38 6p25.3(chr6:259318-279373)x3 http://identifiers.org/clinvar/144489 ^@ GRCh38/hg38 6p25.3(chr6:279314-293615)x1 http://identifiers.org/clinvar/144490 ^@ GRCh38/hg38 8p23.1(chr8:7381969-7834438)x3 http://identifiers.org/clinvar/144491 ^@ GRCh38/hg38 8p23.1(chr8:7381969-7546159)x1 http://identifiers.org/clinvar/144492 ^@ GRCh38/hg38 8p23.1(chr8:7311968-7895064)x3 http://identifiers.org/clinvar/144493 ^@ GRCh38/hg38 8p23.1(chr8:7311968-7895064)x1 http://identifiers.org/clinvar/144494 ^@ GRCh38/hg38 8p23.1(chr8:7381969-8222398)x3 http://identifiers.org/clinvar/144495 ^@ GRCh38/hg38 8p23.1(chr8:7381969-8222398)x1 http://identifiers.org/clinvar/144496 ^@ GRCh38/hg38 17q21.31(chr17:45578381-46130670)x1 http://identifiers.org/clinvar/144497 ^@ GRCh38/hg38 4q31.21(chr4:144112130-144651801)x1 http://identifiers.org/clinvar/144498 ^@ GRCh38/hg38 Xq28(chrX:153688340-153696609)x2 http://identifiers.org/clinvar/144499 ^@ GRCh38/hg38 Xq28(chrX:153688340-153696609)x3 http://identifiers.org/clinvar/144500 ^@ GRCh38/hg38 1p31.1(chr1:78680456-81327787)x3 http://identifiers.org/clinvar/144501 ^@ GRCh38/hg38 15q11.2(chr15:22786765-23048726)x1 http://identifiers.org/clinvar/144502 ^@ GRCh38/hg38 10q26.3(chr10:133429545-133564028)x3 http://identifiers.org/clinvar/144503 ^@ GRCh38/hg38 Xq25(chrX:123196219-123223427)x3 http://identifiers.org/clinvar/144504 ^@ GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3 http://identifiers.org/clinvar/144505 ^@ GRCh38/hg38 Xp11.3(chrX:47470813-47475828)x1 http://identifiers.org/clinvar/144506 ^@ GRCh38/hg38 Xp11.3(chrX:47470813-47475828)x0 http://identifiers.org/clinvar/144507 ^@ GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3 http://identifiers.org/clinvar/144508 ^@ GRCh38/hg38 1q44(chr1:244923388-246158204)x3 http://identifiers.org/clinvar/144509 ^@ GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1 http://identifiers.org/clinvar/144510 ^@ GRCh38/hg38 18q22.2(chr18:70046020-70849885)x1 http://identifiers.org/clinvar/144511 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71032915)x3 http://identifiers.org/clinvar/144512 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71032915)x1 http://identifiers.org/clinvar/144513 ^@ GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1 http://identifiers.org/clinvar/144514 ^@ GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 http://identifiers.org/clinvar/144515 ^@ GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 http://identifiers.org/clinvar/144516 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 http://identifiers.org/clinvar/144517 ^@ GRCh38/hg38 11q25(chr11:132936725-134998513)x1 http://identifiers.org/clinvar/144518 ^@ GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 http://identifiers.org/clinvar/144519 ^@ GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3 http://identifiers.org/clinvar/144520 ^@ GRCh38/hg38 2q37.3(chr2:241914437-242005889)x0 http://identifiers.org/clinvar/144521 ^@ GRCh38/hg38 2q37.3(chr2:242011396-242065208)x1 http://identifiers.org/clinvar/144522 ^@ GRCh38/hg38 10p15.3(chr10:180143-245622)x3 http://identifiers.org/clinvar/144523 ^@ GRCh38/hg38 2p16.3(chr2:50682627-51009921)x1 http://identifiers.org/clinvar/144524 ^@ GRCh38/hg38 14q32.33(chr14:106692722-106704009)x3 http://identifiers.org/clinvar/144525 ^@ GRCh38/hg38 10q26.3(chr10:133432242-133564028)x1 http://identifiers.org/clinvar/144526 ^@ GRCh38/hg38 8p23.1(chr8:7514108-7895064)x1 http://identifiers.org/clinvar/144527 ^@ GRCh38/hg38 8p23.1(chr8:7546100-8222398)x1 http://identifiers.org/clinvar/144528 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6973011-8055877)x3 http://identifiers.org/clinvar/144529 ^@ GRCh38/hg38 8p23.1(chr8:7256134-8023794)x3 http://identifiers.org/clinvar/144530 ^@ GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1 http://identifiers.org/clinvar/144531 ^@ GRCh38/hg38 6p25.3(chr6:259531-293497)x3 http://identifiers.org/clinvar/144532 ^@ GRCh38/hg38 6p25.3(chr6:259531-293497)x1 http://identifiers.org/clinvar/144533 ^@ GRCh38/hg38 8p23.1(chr8:7253289-8023794)x1 http://identifiers.org/clinvar/144534 ^@ GRCh38/hg38 7q36.3(chr7:159257125-159265346)x1 http://identifiers.org/clinvar/144535 ^@ GRCh38/hg38 16p12.2(chr16:21948629-22396630)x1 http://identifiers.org/clinvar/144536 ^@ GRCh38/hg38 8p23.1(chr8:7256134-7294303)x3 http://identifiers.org/clinvar/144537 ^@ GRCh38/hg38 8p23.1(chr8:7256134-7294303)x1 http://identifiers.org/clinvar/144538 ^@ GRCh38/hg38 15q26.3(chr15:101500643-101716531)x3 http://identifiers.org/clinvar/144539 ^@ GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 http://identifiers.org/clinvar/144540 ^@ GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 http://identifiers.org/clinvar/144541 ^@ GRCh38/hg38 10q26.3(chr10:133481635-133559017)x3 http://identifiers.org/clinvar/144542 ^@ GRCh38/hg38 8p23.1(chr8:7217074-8222390)x1 http://identifiers.org/clinvar/144543 ^@ GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 http://identifiers.org/clinvar/144544 ^@ GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 http://identifiers.org/clinvar/144545 ^@ GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3 http://identifiers.org/clinvar/144546 ^@ GRCh38/hg38 10q26.3(chr10:133503363-133519080)x3 http://identifiers.org/clinvar/144547 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106774412)x3 http://identifiers.org/clinvar/144548 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106774412)x1 http://identifiers.org/clinvar/144549 ^@ GRCh38/hg38 8p23.1(chr8:7714673-7760620)x3 http://identifiers.org/clinvar/144550 ^@ GRCh38/hg38 8p23.1(chr8:7714673-7760620)x1 http://identifiers.org/clinvar/144551 ^@ GRCh38/hg38 Yp11.2(chrY:2785763-3026851)x2 http://identifiers.org/clinvar/144552 ^@ GRCh38/hg38 Yp11.2-q11.222(chrY:6255441-18435984)x2 http://identifiers.org/clinvar/144553 ^@ GRCh38/hg38 8p23.1(chr8:7722294-7760620)x3 http://identifiers.org/clinvar/144554 ^@ GRCh38/hg38 8p23.1(chr8:7722294-7760620)x1 http://identifiers.org/clinvar/144555 ^@ GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 http://identifiers.org/clinvar/144556 ^@ GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 http://identifiers.org/clinvar/144557 ^@ GRCh38/hg38 2q13(chr2:110104897-110207198)x3 http://identifiers.org/clinvar/144558 ^@ GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1 http://identifiers.org/clinvar/144559 ^@ GRCh38/hg38 2q13(chr2:110104897-110207198)x1 http://identifiers.org/clinvar/144560 ^@ GRCh38/hg38 5q13.2(chr5:69640103-71317302)x1 http://identifiers.org/clinvar/144561 ^@ GRCh38/hg38 8p23.1(chr8:7330224-8023794)x3 http://identifiers.org/clinvar/144562 ^@ GRCh38/hg38 2q37.3(chr2:241914448-242065306)x1 http://identifiers.org/clinvar/144563 ^@ GRCh38/hg38 1q43-44(chr1:243264192-244668463)x1 http://identifiers.org/clinvar/144567 ^@ GRCh38/hg38 1q31.1(chr1:187000661-187776630)x1 http://identifiers.org/clinvar/144568 ^@ GRCh38/hg38 1q31.3(chr1:195374956-196542209)x1 http://identifiers.org/clinvar/144569 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7560508)x3 http://identifiers.org/clinvar/144570 ^@ GRCh38/hg38 8p23.1(chr8:7722294-7895074)x3 http://identifiers.org/clinvar/144571 ^@ GRCh38/hg38 8p23.1(chr8:7722294-7895074)x1 http://identifiers.org/clinvar/144572 ^@ GRCh38/hg38 14q32.33(chr14:106467689-106653068)x3 http://identifiers.org/clinvar/144573 ^@ GRCh38/hg38 15q26.3(chr15:101621303-101711860)x3 http://identifiers.org/clinvar/144574 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 http://identifiers.org/clinvar/144575 ^@ GRCh38/hg38 4p16.3(chr4:102205-149359)x1 http://identifiers.org/clinvar/144576 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1 http://identifiers.org/clinvar/144577 ^@ GRCh38/hg38 10q26.3(chr10:133445115-133536219)x1 http://identifiers.org/clinvar/144578 ^@ GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1 http://identifiers.org/clinvar/144580 ^@ GRCh38/hg38 10q26.3(chr10:133540771-133556327)x3 http://identifiers.org/clinvar/144581 ^@ GRCh38/hg38 7p22.3(chr7:94063-109692)x3 http://identifiers.org/clinvar/144582 ^@ GRCh38/hg38 10q26.3(chr10:133538858-133556327)x3 http://identifiers.org/clinvar/144583 ^@ GRCh38/hg38 Xq21.1(chrX:78111751-78408833)x2 http://identifiers.org/clinvar/144586 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 http://identifiers.org/clinvar/144587 ^@ GRCh38/hg38 16p13.3(chr16:165675-182685)x1 http://identifiers.org/clinvar/144588 ^@ GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 http://identifiers.org/clinvar/144589 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3 http://identifiers.org/clinvar/144590 ^@ GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 http://identifiers.org/clinvar/144591 ^@ GRCh38/hg38 6q27(chr6:170456961-170539641)x3 http://identifiers.org/clinvar/144592 ^@ GRCh38/hg38 1p13.3(chr1:107395369-108383738)x3 http://identifiers.org/clinvar/144593 ^@ GRCh38/hg38 6p25.3(chr6:259531-284008)x3 http://identifiers.org/clinvar/144594 ^@ GRCh38/hg38 10q26.3(chr10:133429127-133556327)x3 http://identifiers.org/clinvar/144596 ^@ GRCh38/hg38 6p25.3(chr6:296546-339797)x1 http://identifiers.org/clinvar/144597 ^@ GRCh38/hg38 Xp21.2(chrX:30654318-30840990)x3 http://identifiers.org/clinvar/144599 ^@ GRCh38/hg38 4p16.3(chr4:162315-180719)x3 http://identifiers.org/clinvar/144600 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 http://identifiers.org/clinvar/144602 ^@ GRCh38/hg38 6p25.3(chr6:259531-296605)x1 http://identifiers.org/clinvar/144603 ^@ GRCh38/hg38 15q11.2(chr15:22469457-23066575)x1 http://identifiers.org/clinvar/144607 ^@ GRCh38/hg38 8p23.1(chr8:7253289-8222390)x1 http://identifiers.org/clinvar/144608 ^@ GRCh38/hg38 2p22.3(chr2:32452615-33032312)x3 http://identifiers.org/clinvar/144609 ^@ GRCh38/hg38 4q35.2(chr4:187589927-187889836)x3 http://identifiers.org/clinvar/144610 ^@ GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3 http://identifiers.org/clinvar/144612 ^@ GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1 http://identifiers.org/clinvar/144613 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/144614 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106771879)x3 http://identifiers.org/clinvar/144616 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 http://identifiers.org/clinvar/144617 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 http://identifiers.org/clinvar/144620 ^@ GRCh38/hg38 17p13.2(chr17:3637051-3657972)x1 http://identifiers.org/clinvar/144621 ^@ GRCh38/hg38 8p23.1(chr8:7253289-8034272)x1 http://identifiers.org/clinvar/144622 ^@ GRCh38/hg38 2q12.1(chr2:103582810-104312079)x3 http://identifiers.org/clinvar/144623 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148415560)x3 http://identifiers.org/clinvar/144624 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7546133)x3 http://identifiers.org/clinvar/144625 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7546133)x1 http://identifiers.org/clinvar/144626 ^@ GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1 http://identifiers.org/clinvar/144628 ^@ GRCh38/hg38 6q14.2-14.3(chr6:83713534-84298234)x3 http://identifiers.org/clinvar/144630 ^@ GRCh38/hg38 8q24.3(chr8:144997177-145010034)x1 http://identifiers.org/clinvar/144631 ^@ GRCh38/hg38 10q25.1(chr10:108680898-109329963)x1 http://identifiers.org/clinvar/144634 ^@ GRCh38/hg38 4p16.3(chr4:45893-66424)x1 http://identifiers.org/clinvar/144637 ^@ GRCh38/hg38 10q26.3(chr10:133468195-133556327)x3 http://identifiers.org/clinvar/144638 ^@ GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1 http://identifiers.org/clinvar/144641 ^@ GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 http://identifiers.org/clinvar/144643 ^@ GRCh38/hg38 2q37.3(chr2:242011430-242065306)x3 http://identifiers.org/clinvar/144644 ^@ GRCh38/hg38 2q37.3(chr2:242011430-242065306)x1 http://identifiers.org/clinvar/144645 ^@ GRCh38/hg38 8p23.1(chr8:7256134-8222390)x1 http://identifiers.org/clinvar/144646 ^@ GRCh38/hg38 4q35.2(chr4:189047114-189427099)x3 http://identifiers.org/clinvar/144647 ^@ GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 http://identifiers.org/clinvar/144648 ^@ GRCh38/hg38 15q11.2(chr15:22655583-23066575)x3 http://identifiers.org/clinvar/144650 ^@ GRCh38/hg38 15q11.2(chr15:22655583-23107431)x1 http://identifiers.org/clinvar/144651 ^@ GRCh38/hg38 2q37.3(chr2:241947675-242005839)x1 http://identifiers.org/clinvar/144652 ^@ GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3 http://identifiers.org/clinvar/144653 ^@ GRCh38/hg38 8p23.1(chr8:7311988-8023794)x1 http://identifiers.org/clinvar/144654 ^@ GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 http://identifiers.org/clinvar/144657 ^@ GRCh38/hg38 10q26.3(chr10:133461400-133563886)x1 http://identifiers.org/clinvar/144659 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7834323)x3 http://identifiers.org/clinvar/144660 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7834323)x1 http://identifiers.org/clinvar/144663 ^@ GRCh38/hg38 18q22.3(chr18:73273978-73941444)x1 http://identifiers.org/clinvar/144667 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 http://identifiers.org/clinvar/144668 ^@ GRCh38/hg38 1q21.1(chr1:145635432-146019857)x3 http://identifiers.org/clinvar/144672 ^@ GRCh38/hg38 4p16.3(chr4:72428-133536)x3 http://identifiers.org/clinvar/144676 ^@ GRCh38/hg38 8p23.3(chr8:241605-458761)x3 http://identifiers.org/clinvar/144677 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 http://identifiers.org/clinvar/144678 ^@ GRCh38/hg38 10q11.22(chr10:46154949-46706745)x1 http://identifiers.org/clinvar/144680 ^@ GRCh38/hg38 14q32.33(chr14:106704829-106774412)x1 http://identifiers.org/clinvar/144681 ^@ GRCh38/hg38 2q13(chr2:110123094-110207198)x3 http://identifiers.org/clinvar/144683 ^@ GRCh38/hg38 10q26.3(chr10:133461400-133556327)x3 http://identifiers.org/clinvar/144684 ^@ GRCh38/hg38 2q37.3(chr2:241984997-242005839)x1 http://identifiers.org/clinvar/144685 ^@ GRCh37/hg19 17q12(chr17:35076189-36248926)x1 http://identifiers.org/clinvar/144686 ^@ GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 http://identifiers.org/clinvar/144687 ^@ GRCh38/hg38 5p15.33(chr5:90109-138297)x1 http://identifiers.org/clinvar/144688 ^@ GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 http://identifiers.org/clinvar/144689 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7895074)x3 http://identifiers.org/clinvar/144691 ^@ GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 http://identifiers.org/clinvar/144694 ^@ GRCh38/hg38 7q21.13(chr7:88563521-90066533)x3 http://identifiers.org/clinvar/144695 ^@ GRCh38/hg38 2p11.2(chr2:87098204-87705910)x3 http://identifiers.org/clinvar/144696 ^@ GRCh38/hg38 5q13.2(chr5:69942862-71032915)x3 http://identifiers.org/clinvar/144698 ^@ GRCh38/hg38 2p11.2(chr2:87098204-87705910)x1 http://identifiers.org/clinvar/144699 ^@ GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 http://identifiers.org/clinvar/144706 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 http://identifiers.org/clinvar/144707 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 http://identifiers.org/clinvar/144708 ^@ GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1 http://identifiers.org/clinvar/144709 ^@ GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 http://identifiers.org/clinvar/144710 ^@ GRCh38/hg38 7p22.3(chr7:54185-1206119)x3 http://identifiers.org/clinvar/144712 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1 http://identifiers.org/clinvar/144714 ^@ GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 http://identifiers.org/clinvar/144715 ^@ GRCh38/hg38 8q24.3(chr8:139864393-141031612)x3 http://identifiers.org/clinvar/144717 ^@ GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 http://identifiers.org/clinvar/144721 ^@ GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1 http://identifiers.org/clinvar/144722 ^@ GRCh38/hg38 7q11.22(chr7:69865751-70055580)x1 http://identifiers.org/clinvar/144725 ^@ GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3 http://identifiers.org/clinvar/144726 ^@ GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3 http://identifiers.org/clinvar/144727 ^@ GRCh38/hg38 15q11.2(chr15:24818426-24920098)x3 http://identifiers.org/clinvar/144728 ^@ GRCh38/hg38 16q12.1(chr16:51647991-52422170)x3 http://identifiers.org/clinvar/144730 ^@ GRCh38/hg38 11q13.2(chr11:67590733-67806931)x3 http://identifiers.org/clinvar/144731 ^@ GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3 http://identifiers.org/clinvar/144733 ^@ GRCh38/hg38 3p26.3(chr3:1634692-2045586)x3 http://identifiers.org/clinvar/144734 ^@ GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 http://identifiers.org/clinvar/144735 ^@ GRCh38/hg38 2p16.3(chr2:50856272-50915770)x1 http://identifiers.org/clinvar/144736 ^@ GRCh38/hg38 3p26.3(chr3:1260116-2045586)x3 http://identifiers.org/clinvar/144737 ^@ GRCh38/hg38 Xq28(chrX:152813612-153047281)x3 http://identifiers.org/clinvar/144741 ^@ GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 http://identifiers.org/clinvar/144743 ^@ GRCh38/hg38 6q11.1-12(chr6:61468685-63437335)x1 http://identifiers.org/clinvar/144745 ^@ GRCh38/hg38 5q12.1(chr5:60609368-60885007)x1 http://identifiers.org/clinvar/144748 ^@ GRCh38/hg38 Xp22.33(chrX:2777300-2877956)x1 http://identifiers.org/clinvar/144749 ^@ GRCh38/hg38 1q44(chr1:244988599-245542967)x3 http://identifiers.org/clinvar/144752 ^@ GRCh38/hg38 15q11.2(chr15:25337273-25342717)x3 http://identifiers.org/clinvar/144753 ^@ GRCh38/hg38 15q12-13.1(chr15:27743987-28275167)x3 http://identifiers.org/clinvar/144755 ^@ GRCh38/hg38 3p12.1(chr3:85017472-85269997)x1 http://identifiers.org/clinvar/144756 ^@ GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 http://identifiers.org/clinvar/144757 ^@ GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1 http://identifiers.org/clinvar/144758 ^@ GRCh38/hg38 6q23.2-23.3(chr6:134143117-134707402)x3 http://identifiers.org/clinvar/144759 ^@ GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 http://identifiers.org/clinvar/144761 ^@ GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1 http://identifiers.org/clinvar/144762 ^@ GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 http://identifiers.org/clinvar/144764 ^@ GRCh38/hg38 7q11.22(chr7:69000832-70244446)x1 http://identifiers.org/clinvar/144765 ^@ GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1 http://identifiers.org/clinvar/144769 ^@ GRCh38/hg38 6p21.1(chr6:45052665-45265747)x1 http://identifiers.org/clinvar/144773 ^@ GRCh38/hg38 17q11.2(chr17:30614048-30969331)x1 http://identifiers.org/clinvar/144777 ^@ GRCh38/hg38 5q14.3(chr5:85816744-86713048)x3 http://identifiers.org/clinvar/144778 ^@ GRCh38/hg38 17q21.33-22(chr17:51990459-52697115)x3 http://identifiers.org/clinvar/144779 ^@ GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3 http://identifiers.org/clinvar/144780 ^@ GRCh38/hg38 5p13.2(chr5:36570605-37060917)x3 http://identifiers.org/clinvar/144781 ^@ GRCh38/hg38 8q11.21-11.22(chr8:50220870-51694573)x3 http://identifiers.org/clinvar/144782 ^@ GRCh38/hg38 12p13.33(chr12:902526-1279346)x3 http://identifiers.org/clinvar/144783 ^@ GRCh38/hg38 1q21.2(chr1:148437320-148490103)x3 http://identifiers.org/clinvar/144784 ^@ GRCh38/hg38 1q21.1(chr1:146073716-146244094)x3 http://identifiers.org/clinvar/144785 ^@ GRCh38/hg38 1p12(chr1:120014117-120092791)x3 http://identifiers.org/clinvar/144786 ^@ GRCh37/hg19 1q21.1(chr1:143646652-143908838)x1 http://identifiers.org/clinvar/144787 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 http://identifiers.org/clinvar/144788 ^@ GRCh38/hg38 1q25.3(chr1:184102589-185593977)x1 http://identifiers.org/clinvar/144789 ^@ GRCh38/hg38 1q43(chr1:237443286-237784501)x3 http://identifiers.org/clinvar/144790 ^@ GRCh37/hg19 1q21.1(chr1:142604414-142642753)x3 http://identifiers.org/clinvar/144791 ^@ GRCh38/hg38 1p36.33(chr1:904070-978251)x1 http://identifiers.org/clinvar/144792 ^@ GRCh37/hg19 1q21.1(chr1:142604414-142642753)x1 http://identifiers.org/clinvar/144793 ^@ GRCh38/hg38 1p36.32(chr1:2563698-2689265)x3 http://identifiers.org/clinvar/144794 ^@ GRCh38/hg38 1p36.32(chr1:2820130-3006193)x3 http://identifiers.org/clinvar/144795 ^@ GRCh38/hg38 1q44(chr1:248138177-248317448)x1 http://identifiers.org/clinvar/144796 ^@ GRCh38/hg38 1q31.2(chr1:191021824-191228401)x1 http://identifiers.org/clinvar/144797 ^@ GRCh38/hg38 1p33(chr1:49463753-49522404)x1 http://identifiers.org/clinvar/144798 ^@ GRCh38/hg38 1q25.2(chr1:176743655-176811980)x1 http://identifiers.org/clinvar/144799 ^@ GRCh38/hg38 1p13.3(chr1:108268404-108425912)x3 http://identifiers.org/clinvar/144800 ^@ GRCh38/hg38 1p36.32(chr1:2651321-2701929)x3 http://identifiers.org/clinvar/144801 ^@ GRCh38/hg38 1q21.1(chr1:146004406-146046645)x3 http://identifiers.org/clinvar/144802 ^@ GRCh38/hg38 1p36.32(chr1:2651321-2701929)x1 http://identifiers.org/clinvar/144803 ^@ GRCh38/hg38 1q21.3(chr1:151360648-151427484)x3 http://identifiers.org/clinvar/144804 ^@ GRCh38/hg38 1p35.2(chr1:30116821-30696549)x1 http://identifiers.org/clinvar/144805 ^@ GRCh38/hg38 1q44(chr1:243786629-243870496)x1 http://identifiers.org/clinvar/144806 ^@ GRCh38/hg38 1p36.22(chr1:10637036-10693021)x3 http://identifiers.org/clinvar/144807 ^@ GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 http://identifiers.org/clinvar/144808 ^@ GRCh38/hg38 1q41(chr1:218520148-218603627)x3 http://identifiers.org/clinvar/144809 ^@ GRCh38/hg38 1p36.11(chr1:23956536-24001128)x3 http://identifiers.org/clinvar/144810 ^@ GRCh38/hg38 1p21.1(chr1:102191098-102384167)x1 http://identifiers.org/clinvar/144811 ^@ GRCh38/hg38 1p33(chr1:49493753-49583808)x1 http://identifiers.org/clinvar/144812 ^@ GRCh37/hg19 1q21.1(chr1:143504612-143540851)x3 http://identifiers.org/clinvar/144813 ^@ GRCh38/hg38 1q31.1(chr1:187674895-187776567)x1 http://identifiers.org/clinvar/144814 ^@ GRCh38/hg38 1q43(chr1:238512952-238590128)x3 http://identifiers.org/clinvar/144815 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 http://identifiers.org/clinvar/144816 ^@ GRCh38/hg38 1q21.2(chr1:148425519-148437320)x3 http://identifiers.org/clinvar/144817 ^@ GRCh38/hg38 1p36.32(chr1:2659405-2673815)x3 http://identifiers.org/clinvar/144818 ^@ GRCh38/hg38 1p36.32(chr1:2659405-2673815)x4 http://identifiers.org/clinvar/144819 ^@ GRCh38/hg38 2p22.3(chr2:35596740-35731555)x1 http://identifiers.org/clinvar/144820 ^@ GRCh38/hg38 2q12.2(chr2:106312801-106536530)x3 http://identifiers.org/clinvar/144821 ^@ GRCh38/hg38 2p22.1(chr2:39097156-39101653)x1 http://identifiers.org/clinvar/144822 ^@ GRCh38/hg38 2p11.2(chr2:89033009-90225016)x1 http://identifiers.org/clinvar/144823 ^@ GRCh38/hg38 2q21.1(chr2:130029216-130414455)x3 http://identifiers.org/clinvar/144824 ^@ GRCh38/hg38 2q24.1(chr2:155124747-155868132)x3 http://identifiers.org/clinvar/144825 ^@ GRCh38/hg38 2q13(chr2:110104900-110209066)x3 http://identifiers.org/clinvar/144826 ^@ GRCh38/hg38 2q13(chr2:110104900-110209066)x1 http://identifiers.org/clinvar/144827 ^@ GRCh38/hg38 2p12(chr2:81992914-82066498)x4 http://identifiers.org/clinvar/144828 ^@ GRCh38/hg38 2p12(chr2:81992914-82066498)x3 http://identifiers.org/clinvar/144829 ^@ GRCh38/hg38 2p12(chr2:81494632-81672027)x1 http://identifiers.org/clinvar/144830 ^@ GRCh38/hg38 2q13(chr2:110076063-110257869)x3 http://identifiers.org/clinvar/144831 ^@ GRCh38/hg38 2q13(chr2:109959903-110360538)x3 http://identifiers.org/clinvar/144832 ^@ GRCh38/hg38 2q37.1(chr2:230385715-230513525)x3 http://identifiers.org/clinvar/144833 ^@ GRCh38/hg38 2p24.3(chr2:13138650-13277869)x1 http://identifiers.org/clinvar/144834 ^@ GRCh38/hg38 2q37.3(chr2:240687867-240769873)x3 http://identifiers.org/clinvar/144835 ^@ GRCh38/hg38 2q21.1(chr2:130029216-130465575)x3 http://identifiers.org/clinvar/144836 ^@ GRCh38/hg38 2q21.1(chr2:130077004-130465575)x3 http://identifiers.org/clinvar/144837 ^@ GRCh38/hg38 2p16.3(chr2:50822507-50839440)x1 http://identifiers.org/clinvar/144838 ^@ GRCh38/hg38 2p16.3(chr2:50822507-50894953)x1 http://identifiers.org/clinvar/144839 ^@ GRCh38/hg38 2q11.1(chr2:95434253-95701649)x3 http://identifiers.org/clinvar/144840 ^@ GRCh38/hg38 2p22.2(chr2:37740251-37888120)x1 http://identifiers.org/clinvar/144841 ^@ GRCh38/hg38 2p22.3(chr2:35350936-35596740)x1 http://identifiers.org/clinvar/144842 ^@ GRCh38/hg38 3q25.31(chr3:155388702-155490802)x3 http://identifiers.org/clinvar/144843 ^@ GRCh38/hg38 3q29(chr3:195631406-195699004)x3 http://identifiers.org/clinvar/144844 ^@ GRCh38/hg38 3q29(chr3:195631406-195699004)x4 http://identifiers.org/clinvar/144845 ^@ GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1 http://identifiers.org/clinvar/144846 ^@ GRCh38/hg38 3q12.2(chr3:100641848-100725206)x3 http://identifiers.org/clinvar/144847 ^@ GRCh38/hg38 3q12.2(chr3:100641848-100725206)x5 http://identifiers.org/clinvar/144848 ^@ GRCh38/hg38 3q12.2(chr3:100641848-100725206)x4 http://identifiers.org/clinvar/144849 ^@ GRCh38/hg38 3p24.1(chr3:30634639-30638613)x1 http://identifiers.org/clinvar/144850 ^@ GRCh38/hg38 3p26.3(chr3:1798595-1880775)x3 http://identifiers.org/clinvar/144851 ^@ GRCh38/hg38 3q28(chr3:191543882-191762157)x3 http://identifiers.org/clinvar/144852 ^@ GRCh38/hg38 3p24.3(chr3:23668137-23783895)x3 http://identifiers.org/clinvar/144853 ^@ GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1 http://identifiers.org/clinvar/144854 ^@ GRCh38/hg38 3q12.3(chr3:102481295-102566368)x3 http://identifiers.org/clinvar/144855 ^@ GRCh38/hg38 3p12.1(chr3:85408307-85566418)x1 http://identifiers.org/clinvar/144856 ^@ GRCh38/hg38 3p26.3(chr3:85837-296216)x3 http://identifiers.org/clinvar/144857 ^@ GRCh38/hg38 3p26.3(chr3:427445-462035)x1 http://identifiers.org/clinvar/144858 ^@ GRCh38/hg38 3q13.31(chr3:114298318-116366433)x1 http://identifiers.org/clinvar/144859 ^@ GRCh38/hg38 3q13.32(chr3:119033541-119081373)x4 http://identifiers.org/clinvar/144860 ^@ GRCh38/hg38 3p24.3(chr3:22079119-22213537)x1 http://identifiers.org/clinvar/144861 ^@ GRCh38/hg38 3p26.3(chr3:1780588-1939069)x1 http://identifiers.org/clinvar/144862 ^@ GRCh38/hg38 3p14.2(chr3:60102627-60254729)x1 http://identifiers.org/clinvar/144863 ^@ GRCh38/hg38 3p14.2(chr3:62913997-63199174)x3 http://identifiers.org/clinvar/144864 ^@ GRCh38/hg38 3q23(chr3:142113086-142334267)x3 http://identifiers.org/clinvar/144865 ^@ GRCh38/hg38 3p12.2-12.1(chr3:83336223-83518503)x3 http://identifiers.org/clinvar/144866 ^@ GRCh38/hg38 3q11.2(chr3:97602099-97893838)x3 http://identifiers.org/clinvar/144867 ^@ GRCh38/hg38 4q22.1(chr4:91475388-92298126)x3 http://identifiers.org/clinvar/144868 ^@ GRCh38/hg38 4p11(chr4:49235485-49331265)x3 http://identifiers.org/clinvar/144869 ^@ GRCh38/hg38 4p16.3(chr4:78578-117990)x3 http://identifiers.org/clinvar/144870 ^@ GRCh38/hg38 4q28.2(chr4:128856871-128983901)x3 http://identifiers.org/clinvar/144871 ^@ GRCh38/hg38 4p16.3(chr4:4165045-4247526)x3 http://identifiers.org/clinvar/144872 ^@ GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 http://identifiers.org/clinvar/144873 ^@ GRCh38/hg38 4q32.3(chr4:167400142-167555986)x3 http://identifiers.org/clinvar/144874 ^@ GRCh38/hg38 4p15.1(chr4:33519132-33716358)x3 http://identifiers.org/clinvar/144875 ^@ GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3 http://identifiers.org/clinvar/144876 ^@ GRCh38/hg38 4p11(chr4:49161529-49499678)x3 http://identifiers.org/clinvar/144877 ^@ GRCh38/hg38 4q35.2(chr4:189953302-190022219)x3 http://identifiers.org/clinvar/144878 ^@ GRCh38/hg38 5q35.3(chr5:181338808-181463112)x3 http://identifiers.org/clinvar/144879 ^@ GRCh38/hg38 5q35.3(chr5:181338808-181448620)x3 http://identifiers.org/clinvar/144880 ^@ GRCh38/hg38 5p15.33(chr5:22149-163286)x3 http://identifiers.org/clinvar/144881 ^@ GRCh38/hg38 5q35.3(chr5:181356054-181398789)x3 http://identifiers.org/clinvar/144882 ^@ GRCh38/hg38 5q35.3(chr5:181356054-181398789)x1 http://identifiers.org/clinvar/144883 ^@ GRCh38/hg38 5p15.33(chr5:22149-221160)x1 http://identifiers.org/clinvar/144884 ^@ GRCh38/hg38 5q22.1(chr5:111240313-111317511)x1 http://identifiers.org/clinvar/144885 ^@ GRCh38/hg38 5p15.1(chr5:15601664-15807865)x1 http://identifiers.org/clinvar/144886 ^@ GRCh38/hg38 5p14.3(chr5:21527512-21726301)x3 http://identifiers.org/clinvar/144887 ^@ GRCh38/hg38 5p15.31(chr5:7422048-7449225)x3 http://identifiers.org/clinvar/144888 ^@ GRCh38/hg38 5p15.2(chr5:13802199-14153452)x3 http://identifiers.org/clinvar/144889 ^@ GRCh38/hg38 5q35.3(chr5:181356054-181448620)x3 http://identifiers.org/clinvar/144890 ^@ GRCh38/hg38 5q23.1(chr5:118945071-118989552)x1 http://identifiers.org/clinvar/144891 ^@ GRCh38/hg38 5q35.3(chr5:180764645-180859067)x3 http://identifiers.org/clinvar/144892 ^@ GRCh38/hg38 6q22.1(chr6:115004512-115149805)x3 http://identifiers.org/clinvar/144893 ^@ GRCh38/hg38 6q15(chr6:89931798-91707636)x3 http://identifiers.org/clinvar/144894 ^@ GRCh38/hg38 6q27(chr6:170628371-170699009)x3 http://identifiers.org/clinvar/144895 ^@ GRCh38/hg38 6q22.1(chr6:114960725-115191315)x3 http://identifiers.org/clinvar/144896 ^@ GRCh38/hg38 6q22.1(chr6:114960725-115191315)x4 http://identifiers.org/clinvar/144897 ^@ GRCh38/hg38 6q22.1(chr6:114960725-115191315)x1 http://identifiers.org/clinvar/144898 ^@ GRCh37/hg19 6p11.2(chr6:57360339-57673830)x3 http://identifiers.org/clinvar/144899 ^@ GRCh38/hg38 6q16.3(chr6:104177975-104341827)x1 http://identifiers.org/clinvar/144900 ^@ GRCh38/hg38 6q26(chr6:162449337-162512065)x1 http://identifiers.org/clinvar/144901 ^@ GRCh38/hg38 6q26(chr6:162120320-162356161)x1 http://identifiers.org/clinvar/144902 ^@ GRCh38/hg38 6p25.1(chr6:4269466-4465010)x1 http://identifiers.org/clinvar/144903 ^@ GRCh38/hg38 6p12.1(chr6:57052810-57085760)x3 http://identifiers.org/clinvar/144904 ^@ GRCh38/hg38 6p12.1(chr6:57052810-57085760)x4 http://identifiers.org/clinvar/144905 ^@ GRCh38/hg38 6p12.1(chr6:57052810-57085760)x1 http://identifiers.org/clinvar/144906 ^@ GRCh38/hg38 6q24.2-24.3(chr6:144764447-145609129)x3 http://identifiers.org/clinvar/144907 ^@ GRCh38/hg38 6p25.3(chr6:490850-700078)x3 http://identifiers.org/clinvar/144908 ^@ GRCh38/hg38 6q14.1(chr6:80863139-80990147)x3 http://identifiers.org/clinvar/144909 ^@ GRCh38/hg38 6q27(chr6:170027463-170257060)x1 http://identifiers.org/clinvar/144910 ^@ GRCh38/hg38 6q11.1-11.2(chr6:62566683-62638936)x3 http://identifiers.org/clinvar/144911 ^@ GRCh38/hg38 6q16.3(chr6:104501910-104729309)x1 http://identifiers.org/clinvar/144912 ^@ GRCh38/hg38 6q27(chr6:170628371-170716383)x3 http://identifiers.org/clinvar/144913 ^@ GRCh38/hg38 6q16.1(chr6:93778112-93876782)x0 http://identifiers.org/clinvar/144914 ^@ GRCh38/hg38 6q27(chr6:170628371-170674315)x3 http://identifiers.org/clinvar/144915 ^@ GRCh38/hg38 6q22.1(chr6:114960725-115149805)x3 http://identifiers.org/clinvar/144916 ^@ GRCh38/hg38 6q12(chr6:67527574-67705723)x1 http://identifiers.org/clinvar/144917 ^@ GRCh38/hg38 6q26(chr6:162184862-162273766)x1 http://identifiers.org/clinvar/144918 ^@ GRCh38/hg38 7q11.22(chr7:71590242-71808650)x3 http://identifiers.org/clinvar/144919 ^@ GRCh38/hg38 7p12.1(chr7:53404348-53515432)x1 http://identifiers.org/clinvar/144920 ^@ GRCh38/hg38 7q36.1(chr7:149666954-149906059)x3 http://identifiers.org/clinvar/144921 ^@ GRCh38/hg38 7q36.2(chr7:153460303-153790178)x3 http://identifiers.org/clinvar/144922 ^@ GRCh38/hg38 7q31.31(chr7:119226617-119385676)x3 http://identifiers.org/clinvar/144923 ^@ GRCh38/hg38 7q31.32-31.33(chr7:123319393-124170657)x3 http://identifiers.org/clinvar/144924 ^@ GRCh38/hg38 7q31.31(chr7:119226617-119385676)x1 http://identifiers.org/clinvar/144925 ^@ GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1 http://identifiers.org/clinvar/144926 ^@ GRCh38/hg38 7q31.33(chr7:125538149-126150923)x3 http://identifiers.org/clinvar/144927 ^@ GRCh38/hg38 7q11.22(chr7:69828711-70038445)x1 http://identifiers.org/clinvar/144928 ^@ GRCh38/hg38 7p21.1(chr7:17077153-17149009)x1 http://identifiers.org/clinvar/144929 ^@ GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 http://identifiers.org/clinvar/144930 ^@ GRCh38/hg38 7p21.3(chr7:7249268-7417064)x1 http://identifiers.org/clinvar/144931 ^@ GRCh38/hg38 7p22.3(chr7:1918597-1993006)x1 http://identifiers.org/clinvar/144932 ^@ GRCh38/hg38 7q21.13(chr7:89941939-90066509)x1 http://identifiers.org/clinvar/144933 ^@ GRCh38/hg38 7q11.22(chr7:69588764-69765039)x1 http://identifiers.org/clinvar/144934 ^@ GRCh38/hg38 7p14.3(chr7:29651662-29717170)x3 http://identifiers.org/clinvar/144935 ^@ GRCh38/hg38 7p22.3(chr7:46494-65558)x3 http://identifiers.org/clinvar/144936 ^@ GRCh38/hg38 7p11.2(chr7:55878835-55888002)x3 http://identifiers.org/clinvar/144937 ^@ GRCh38/hg38 8p23.1(chr8:6732159-6822611)x3 http://identifiers.org/clinvar/144938 ^@ GRCh38/hg38 8p23.1(chr8:6763923-6822611)x3 http://identifiers.org/clinvar/144939 ^@ GRCh38/hg38 8q11.21(chr8:47414028-47609983)x1 http://identifiers.org/clinvar/144940 ^@ GRCh38/hg38 8p23.1(chr8:11534277-11562107)x3 http://identifiers.org/clinvar/144941 ^@ GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3 http://identifiers.org/clinvar/144942 ^@ GRCh38/hg38 8q23.3(chr8:113187763-113326162)x3 http://identifiers.org/clinvar/144943 ^@ GRCh38/hg38 8p21.3(chr8:23043686-23080572)x3 http://identifiers.org/clinvar/144944 ^@ GRCh38/hg38 8p23.3(chr8:137572-178199)x3 http://identifiers.org/clinvar/144945 ^@ GRCh38/hg38 8p23.3(chr8:137572-178199)x1 http://identifiers.org/clinvar/144946 ^@ GRCh38/hg38 8q24.3(chr8:143329374-143531855)x3 http://identifiers.org/clinvar/144947 ^@ GRCh38/hg38 8p23.3-23.2(chr8:2244521-2475337)x3 http://identifiers.org/clinvar/144948 ^@ GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 http://identifiers.org/clinvar/144949 ^@ GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 http://identifiers.org/clinvar/144950 ^@ GRCh38/hg38 8p22(chr8:16094502-16164176)x1 http://identifiers.org/clinvar/144951 ^@ GRCh38/hg38 8p23.3(chr8:90247-195465)x3 http://identifiers.org/clinvar/144952 ^@ GRCh38/hg38 8q11.21(chr8:47276396-47303590)x3 http://identifiers.org/clinvar/144953 ^@ GRCh38/hg38 8p12(chr8:35587361-35947174)x3 http://identifiers.org/clinvar/144954 ^@ GRCh38/hg38 8p23.3(chr8:90247-178199)x3 http://identifiers.org/clinvar/144955 ^@ GRCh38/hg38 8p22(chr8:13746577-14077602)x3 http://identifiers.org/clinvar/144956 ^@ GRCh38/hg38 9p23(chr9:12196142-12794564)x3 http://identifiers.org/clinvar/144957 ^@ GRCh38/hg38 9q32(chr9:112617226-112826037)x3 http://identifiers.org/clinvar/144958 ^@ GRCh38/hg38 9p21.3-21.2(chr9:25527397-25616021)x1 http://identifiers.org/clinvar/144959 ^@ GRCh38/hg38 9q21.2(chr9:76996739-77415046)x1 http://identifiers.org/clinvar/144960 ^@ GRCh38/hg38 9p21.1(chr9:30424071-30520900)x1 http://identifiers.org/clinvar/144961 ^@ GRCh38/hg38 9p24.1-23(chr9:8903382-9014802)x1 http://identifiers.org/clinvar/144962 ^@ GRCh38/hg38 9q34.3(chr9:138167115-138216026)x3 http://identifiers.org/clinvar/144963 ^@ GRCh38/hg38 9p21.3(chr9:25259015-25346914)x1 http://identifiers.org/clinvar/144964 ^@ GRCh38/hg38 9q34.3(chr9:135265814-135391712)x3 http://identifiers.org/clinvar/144965 ^@ GRCh38/hg38 9p23(chr9:11927681-12007047)x1 http://identifiers.org/clinvar/144966 ^@ GRCh38/hg38 9p24.3(chr9:910389-1457606)x3 http://identifiers.org/clinvar/144967 ^@ GRCh38/hg38 9p24.2(chr9:2413996-2711186)x3 http://identifiers.org/clinvar/144968 ^@ GRCh38/hg38 9p24.1(chr9:8065133-8187842)x1 http://identifiers.org/clinvar/144969 ^@ GRCh38/hg38 9p21.3(chr9:22212554-22326166)x1 http://identifiers.org/clinvar/144970 ^@ GRCh38/hg38 9p21.1(chr9:28191463-28320733)x1 http://identifiers.org/clinvar/144971 ^@ GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 http://identifiers.org/clinvar/144972 ^@ GRCh38/hg38 9p24.3(chr9:163131-271257)x3 http://identifiers.org/clinvar/144973 ^@ GRCh38/hg38 9p23(chr9:10249116-10340720)x3 http://identifiers.org/clinvar/144974 ^@ GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1 http://identifiers.org/clinvar/144975 ^@ GRCh38/hg38 9p23(chr9:11713632-11868524)x1 http://identifiers.org/clinvar/144976 ^@ GRCh38/hg38 10q21.3(chr10:66719462-66839674)x1 http://identifiers.org/clinvar/144977 ^@ GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 http://identifiers.org/clinvar/144978 ^@ GRCh38/hg38 10p15.3-15.2(chr10:2092215-3131812)x3 http://identifiers.org/clinvar/144979 ^@ GRCh38/hg38 10p15.3(chr10:1168276-1674493)x3 http://identifiers.org/clinvar/144980 ^@ GRCh38/hg38 10q25.1(chr10:105349304-105520966)x3 http://identifiers.org/clinvar/144981 ^@ GRCh38/hg38 10q24.32(chr10:101261619-101468818)x3 http://identifiers.org/clinvar/144982 ^@ GRCh38/hg38 10q26.3(chr10:131761691-131805535)x3 http://identifiers.org/clinvar/144984 ^@ GRCh38/hg38 10p12.33(chr10:17839748-17920896)x3 http://identifiers.org/clinvar/144985 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 http://identifiers.org/clinvar/144986 ^@ GRCh38/hg38 10q25.1(chr10:106700462-106752467)x3 http://identifiers.org/clinvar/144987 ^@ GRCh38/hg38 10q11.23(chr10:50729367-50759170)x3 http://identifiers.org/clinvar/144988 ^@ GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1 http://identifiers.org/clinvar/144989 ^@ GRCh38/hg38 10q23.1(chr10:82377919-82510252)x1 http://identifiers.org/clinvar/144990 ^@ GRCh38/hg38 10q24.2(chr10:98907968-98937040)x1 http://identifiers.org/clinvar/144991 ^@ GRCh38/hg38 10p12.33(chr10:17767524-17839747)x3 http://identifiers.org/clinvar/144992 ^@ GRCh38/hg38 10p12.33(chr10:17767524-17839747)x1 http://identifiers.org/clinvar/144993 ^@ GRCh38/hg38 10p13(chr10:12333253-13948472)x1 http://identifiers.org/clinvar/144994 ^@ GRCh38/hg38 10p12.31(chr10:19157661-19521781)x1 http://identifiers.org/clinvar/144995 ^@ GRCh38/hg38 11q25(chr11:134483920-134841719)x3 http://identifiers.org/clinvar/144996 ^@ GRCh38/hg38 11p15.5(chr11:371634-414570)x3 http://identifiers.org/clinvar/144997 ^@ GRCh38/hg38 11q25(chr11:133676308-133756534)x1 http://identifiers.org/clinvar/144998 ^@ GRCh38/hg38 11p15.5(chr11:313991-504786)x3 http://identifiers.org/clinvar/144999 ^@ GRCh38/hg38 11q14.1(chr11:80945608-81191865)x1 http://identifiers.org/clinvar/145000 ^@ GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3 http://identifiers.org/clinvar/145001 ^@ GRCh38/hg38 11q25(chr11:134287463-134337921)x3 http://identifiers.org/clinvar/145002 ^@ GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 http://identifiers.org/clinvar/145003 ^@ GRCh38/hg38 11q25(chr11:134287463-134337921)x1 http://identifiers.org/clinvar/145004 ^@ GRCh38/hg38 11p11.2(chr11:47568261-47595569)x3 http://identifiers.org/clinvar/145005 ^@ GRCh38/hg38 11q22.1(chr11:97849768-98357901)x1 http://identifiers.org/clinvar/145006 ^@ GRCh38/hg38 11q12.1(chr11:56555514-56584888)x1 http://identifiers.org/clinvar/145007 ^@ GRCh38/hg38 11p15.5(chr11:61793-116316)x3 http://identifiers.org/clinvar/145008 ^@ GRCh38/hg38 11p14.3(chr11:22830371-23213204)x3 http://identifiers.org/clinvar/145009 ^@ GRCh38/hg38 11q21-22.1(chr11:96761623-98053458)x3 http://identifiers.org/clinvar/145010 ^@ GRCh38/hg38 12q14.2(chr12:63553952-63722729)x3 http://identifiers.org/clinvar/145011 ^@ GRCh38/hg38 12q14.3(chr12:66783512-66855222)x1 http://identifiers.org/clinvar/145012 ^@ GRCh38/hg38 12q14.2(chr12:63553952-63722729)x1 http://identifiers.org/clinvar/145013 ^@ GRCh38/hg38 12q13.13(chr12:52310983-52385900)x3 http://identifiers.org/clinvar/145014 ^@ GRCh38/hg38 12q12(chr12:45273857-45388630)x1 http://identifiers.org/clinvar/145015 ^@ GRCh38/hg38 12q14.3(chr12:66789696-66816559)x1 http://identifiers.org/clinvar/145016 ^@ GRCh38/hg38 12q24.33(chr12:133136361-133202431)x3 http://identifiers.org/clinvar/145017 ^@ GRCh38/hg38 12q24.11(chr12:109121291-109209522)x4 http://identifiers.org/clinvar/145018 ^@ GRCh38/hg38 13q14.3(chr13:52381559-54493354)x3 http://identifiers.org/clinvar/145019 ^@ GRCh38/hg38 13q21.33(chr13:72252165-72443196)x1 http://identifiers.org/clinvar/145020 ^@ GRCh38/hg38 13q11(chr13:18753204-18806672)x3 http://identifiers.org/clinvar/145021 ^@ GRCh38/hg38 13q34(chr13:114016178-114128299)x3 http://identifiers.org/clinvar/145022 ^@ GRCh38/hg38 13q14.3(chr13:51576735-51698516)x3 http://identifiers.org/clinvar/145023 ^@ GRCh38/hg38 13q12.12(chr13:22943845-23221349)x3 http://identifiers.org/clinvar/145024 ^@ GRCh38/hg38 13q12.12(chr13:24202115-24336546)x3 http://identifiers.org/clinvar/145025 ^@ GRCh38/hg38 14q21.2(chr14:43387283-43754611)x4 http://identifiers.org/clinvar/145026 ^@ GRCh38/hg38 14q21.2(chr14:45352239-45510467)x1 http://identifiers.org/clinvar/145027 ^@ GRCh38/hg38 14q21.2(chr14:43387283-43754611)x3 http://identifiers.org/clinvar/145028 ^@ GRCh38/hg38 14q23.3(chr14:65274673-65617127)x1 http://identifiers.org/clinvar/145029 ^@ GRCh38/hg38 14q24.2(chr14:72172189-72198910)x3 http://identifiers.org/clinvar/145030 ^@ GRCh38/hg38 15q11.2(chr15:22358243-22544169)x3 http://identifiers.org/clinvar/145031 ^@ GRCh38/hg38 15q26.1(chr15:93674817-93791360)x1 http://identifiers.org/clinvar/145032 ^@ GRCh38/hg38 15q26.3(chr15:101240570-101468912)x3 http://identifiers.org/clinvar/145033 ^@ GRCh38/hg38 15q26.3(chr15:99248720-99456850)x1 http://identifiers.org/clinvar/145034 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 http://identifiers.org/clinvar/145035 ^@ GRCh38/hg38 15q21.3(chr15:57363807-57456076)x3 http://identifiers.org/clinvar/145036 ^@ GRCh38/hg38 15q24.2(chr15:75249521-75296694)x1 http://identifiers.org/clinvar/145037 ^@ GRCh38/hg38 15q26.1(chr15:90314432-90400522)x3 http://identifiers.org/clinvar/145038 ^@ GRCh38/hg38 15q21.2(chr15:49751614-50137152)x1 http://identifiers.org/clinvar/145039 ^@ GRCh38/hg38 15q24.2(chr15:75260306-75296694)x3 http://identifiers.org/clinvar/145040 ^@ GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3 http://identifiers.org/clinvar/145041 ^@ GRCh38/hg38 15q11.2(chr15:22572858-23012211)x1 http://identifiers.org/clinvar/145042 ^@ GRCh38/hg38 15q26.3(chr15:99871015-100058445)x3 http://identifiers.org/clinvar/145043 ^@ GRCh38/hg38 16p13.3(chr16:22769-32412)x3 http://identifiers.org/clinvar/145044 ^@ GRCh38/hg38 16p13.3(chr16:22769-32412)x1 http://identifiers.org/clinvar/145045 ^@ GRCh38/hg38 15q11.2(chr15:22655641-23012211)x1 http://identifiers.org/clinvar/145046 ^@ GRCh38/hg38 16p13.3(chr16:19193-32412)x3 http://identifiers.org/clinvar/145047 ^@ GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1 http://identifiers.org/clinvar/145048 ^@ GRCh38/hg38 16p13.3(chr16:6099326-6470232)x3 http://identifiers.org/clinvar/145049 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30179188)x1 http://identifiers.org/clinvar/145050 ^@ GRCh38/hg38 16p13.3(chr16:6900958-6922247)x1 http://identifiers.org/clinvar/145052 ^@ GRCh38/hg38 16p13.3(chr16:350651-396961)x4 http://identifiers.org/clinvar/145053 ^@ GRCh38/hg38 16p13.3(chr16:350651-396961)x3 http://identifiers.org/clinvar/145054 ^@ GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1 http://identifiers.org/clinvar/145055 ^@ GRCh38/hg38 16q22.3(chr16:72853152-73376761)x3 http://identifiers.org/clinvar/145056 ^@ GRCh38/hg38 16p13.11(chr16:15892203-15947682)x3 http://identifiers.org/clinvar/145057 ^@ GRCh38/hg38 16p13.11(chr16:15892203-15926020)x3 http://identifiers.org/clinvar/145058 ^@ GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 http://identifiers.org/clinvar/145059 ^@ GRCh38/hg38 17q11.2(chr17:30642544-31005259)x3 http://identifiers.org/clinvar/145060 ^@ GRCh38/hg38 17p11.2(chr17:19601336-19632996)x1 http://identifiers.org/clinvar/145061 ^@ GRCh38/hg38 17p11.2(chr17:19601336-19632996)x0 http://identifiers.org/clinvar/145062 ^@ GRCh38/hg38 17q12(chr17:35358082-35427813)x1 http://identifiers.org/clinvar/145063 ^@ GRCh38/hg38 17q11.2(chr17:27664946-27734947)x3 http://identifiers.org/clinvar/145064 ^@ GRCh38/hg38 17q11.1(chr17:27074747-27331289)x3 http://identifiers.org/clinvar/145065 ^@ GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 http://identifiers.org/clinvar/145066 ^@ GRCh38/hg38 17p11.2(chr17:16793728-16819465)x3 http://identifiers.org/clinvar/145067 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46130611)x1 http://identifiers.org/clinvar/145068 ^@ GRCh38/hg38 17q21.32(chr17:47522632-47585157)x3 http://identifiers.org/clinvar/145069 ^@ GRCh38/hg38 17p12(chr17:14464946-14519690)x3 http://identifiers.org/clinvar/145070 ^@ GRCh38/hg38 17q24.2(chr17:67994397-68079905)x3 http://identifiers.org/clinvar/145071 ^@ GRCh38/hg38 17q24.2(chr17:67994397-68079905)x4 http://identifiers.org/clinvar/145072 ^@ GRCh38/hg38 17q24.2(chr17:67994397-68079905)x1 http://identifiers.org/clinvar/145073 ^@ GRCh38/hg38 17q25.3(chr17:81871533-81891511)x4 http://identifiers.org/clinvar/145074 ^@ GRCh38/hg38 18p11.32(chr18:1919684-1980786)x3 http://identifiers.org/clinvar/145075 ^@ GRCh38/hg38 18p11.32(chr18:1919684-1980786)x1 http://identifiers.org/clinvar/145076 ^@ GRCh38/hg38 18q23(chr18:76635470-76727820)x3 http://identifiers.org/clinvar/145077 ^@ GRCh38/hg38 18p11.32(chr18:14316-69754)x3 http://identifiers.org/clinvar/145078 ^@ GRCh38/hg38 18p11.32(chr18:14316-69754)x4 http://identifiers.org/clinvar/145079 ^@ GRCh38/hg38 18p11.32(chr18:14316-69754)x1 http://identifiers.org/clinvar/145080 ^@ GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 http://identifiers.org/clinvar/145081 ^@ GRCh38/hg38 19p13.3(chr19:61112-168688)x3 http://identifiers.org/clinvar/145082 ^@ GRCh38/hg38 19p13.3(chr19:91171-202952)x3 http://identifiers.org/clinvar/145083 ^@ GRCh38/hg38 19p12(chr19:20647266-20763794)x3 http://identifiers.org/clinvar/145084 ^@ GRCh38/hg38 19p13.3(chr19:74459-113418)x3 http://identifiers.org/clinvar/145085 ^@ GRCh38/hg38 19p13.3(chr19:74459-113418)x1 http://identifiers.org/clinvar/145086 ^@ GRCh38/hg38 19q13.41(chr19:52295547-52386995)x1 http://identifiers.org/clinvar/145087 ^@ GRCh38/hg38 19q12(chr19:30596523-31293682)x3 http://identifiers.org/clinvar/145088 ^@ GRCh38/hg38 19q13.41(chr19:52616146-52929716)x3 http://identifiers.org/clinvar/145089 ^@ GRCh38/hg38 19p13.3(chr19:839492-995558)x1 http://identifiers.org/clinvar/145090 ^@ GRCh38/hg38 19p12(chr19:22213932-22261454)x3 http://identifiers.org/clinvar/145091 ^@ GRCh38/hg38 19p13.3(chr19:61112-113418)x3 http://identifiers.org/clinvar/145092 ^@ GRCh38/hg38 19p13.3(chr19:61112-113418)x1 http://identifiers.org/clinvar/145093 ^@ GRCh38/hg38 19p12(chr19:21591877-22802673)x3 http://identifiers.org/clinvar/145094 ^@ GRCh38/hg38 19q13.2(chr19:40942916-41005044)x1 http://identifiers.org/clinvar/145095 ^@ GRCh38/hg38 20p11.21(chr20:25454622-25581787)x3 http://identifiers.org/clinvar/145096 ^@ GRCh38/hg38 20p12.3(chr20:5702738-5944843)x3 http://identifiers.org/clinvar/145097 ^@ GRCh38/hg38 20q11.22(chr20:33864441-33941061)x3 http://identifiers.org/clinvar/145098 ^@ GRCh38/hg38 20p12.1(chr20:14753765-15117788)x1 http://identifiers.org/clinvar/145099 ^@ GRCh38/hg38 20q12(chr20:42438777-42478707)x3 http://identifiers.org/clinvar/145100 ^@ GRCh38/hg38 20p13(chr20:590507-661733)x3 http://identifiers.org/clinvar/145101 ^@ GRCh38/hg38 20p12.1(chr20:14753765-14857571)x1 http://identifiers.org/clinvar/145102 ^@ GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3 http://identifiers.org/clinvar/145103 ^@ GRCh38/hg38 20p12.1(chr20:14796234-14947922)x1 http://identifiers.org/clinvar/145104 ^@ GRCh38/hg38 21q21.1(chr21:22354814-22461210)x1 http://identifiers.org/clinvar/145105 ^@ GRCh38/hg38 21q21.1(chr21:18039705-18229810)x3 http://identifiers.org/clinvar/145106 ^@ GRCh38/hg38 21q21.1(chr21:22409863-22554848)x1 http://identifiers.org/clinvar/145107 ^@ GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 http://identifiers.org/clinvar/145108 ^@ GRCh38/hg38 21q22.12(chr21:36125853-36227968)x3 http://identifiers.org/clinvar/145109 ^@ GRCh38/hg38 22q12.1(chr22:25574679-25712434)x3 http://identifiers.org/clinvar/145110 ^@ GRCh38/hg38 22q11.1(chr22:16786503-16809385)x3 http://identifiers.org/clinvar/145111 ^@ GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 http://identifiers.org/clinvar/145112 ^@ GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3 http://identifiers.org/clinvar/145113 ^@ GRCh38/hg38 22q11.21(chr22:18907322-20250683)x1 http://identifiers.org/clinvar/145114 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3 http://identifiers.org/clinvar/145115 ^@ GRCh37/hg19 22q11.1(chr22:16054691-17450189)x3 http://identifiers.org/clinvar/145116 ^@ GRCh38/hg38 22q13.32-13.33(chr22:49003834-49601475)x3 http://identifiers.org/clinvar/145117 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 http://identifiers.org/clinvar/145118 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 http://identifiers.org/clinvar/145119 ^@ GRCh38/hg38 22q11.21(chr22:20726972-21086166)x3 http://identifiers.org/clinvar/145120 ^@ GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1 http://identifiers.org/clinvar/145121 ^@ GRCh38/hg38 Xq23(chrX:114983873-115160979)x3 http://identifiers.org/clinvar/145122 ^@ GRCh38/hg38 Xq23(chrX:114983873-115160979)x2 http://identifiers.org/clinvar/145123 ^@ GRCh38/hg38 Xq28(chrX:155785125-155806648)x1 http://identifiers.org/clinvar/145124 ^@ GRCh38/hg38 Xq28(chrX:156006941-156020513)x4 http://identifiers.org/clinvar/145125 ^@ GRCh38/hg38 Xp21.1(chrX:32557406-32754551)x0 http://identifiers.org/clinvar/145126 ^@ GRCh38/hg38 Xp22.31(chrX:8282297-8423911)x2 http://identifiers.org/clinvar/145127 ^@ GRCh38/hg38 Xp22.31(chrX:8282297-8423911)x3 http://identifiers.org/clinvar/145128 ^@ GRCh38/hg38 Xq28(chrX:156006941-156026127)x3 http://identifiers.org/clinvar/145129 ^@ GRCh38/hg38 Xq28(chrX:156006941-156026127)x1 http://identifiers.org/clinvar/145130 ^@ GRCh38/hg38 Xp22.33(chrX:259759-736434)x3 http://identifiers.org/clinvar/145131 ^@ GRCh38/hg38 Xp22.33(chrX:320792-620042)x3 http://identifiers.org/clinvar/145132 ^@ GRCh38/hg38 Xq28(chrX:155492709-155547057)x3 http://identifiers.org/clinvar/145133 ^@ GRCh38/hg38 Xp22.13-22.12(chrX:19109818-19333639)x3 http://identifiers.org/clinvar/145134 ^@ GRCh38/hg38 Xq21.33(chrX:95161438-95207591)x1 http://identifiers.org/clinvar/145135 ^@ GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x3 http://identifiers.org/clinvar/145136 ^@ GRCh38/hg38 Xp11.3(chrX:44387905-45242671)x2 http://identifiers.org/clinvar/145137 ^@ GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x2 http://identifiers.org/clinvar/145138 ^@ GRCh38/hg38 Xp22.33(chrX:3518463-3751773)x3 http://identifiers.org/clinvar/145139 ^@ GRCh38/hg38 Xp11.4-11.3(chrX:42471865-42582707)x1 http://identifiers.org/clinvar/145140 ^@ GRCh38/hg38 Xq27.3(chrX:144675423-144761682)x2 http://identifiers.org/clinvar/145141 ^@ GRCh38/hg38 Xq25(chrX:123473778-123593934)x2 http://identifiers.org/clinvar/145142 ^@ GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x2 http://identifiers.org/clinvar/145143 ^@ GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x3 http://identifiers.org/clinvar/145144 ^@ GRCh38/hg38 Xq23(chrX:116810579-116913080)x2 http://identifiers.org/clinvar/145145 ^@ GRCh38/hg38 Xq23(chrX:116810579-116913080)x3 http://identifiers.org/clinvar/145146 ^@ GRCh38/hg38 Xp21.1(chrX:31540244-32059446)x0 http://identifiers.org/clinvar/145147 ^@ GRCh38/hg38 Xp22.31(chrX:6531603-6536054)x3 http://identifiers.org/clinvar/145148 ^@ GRCh38/hg38 Xp22.31(chrX:8098997-8216172)x2 http://identifiers.org/clinvar/145149 ^@ GRCh38/hg38 Xq28(chrX:149797172-149916655)x3 http://identifiers.org/clinvar/145150 ^@ GRCh38/hg38 Xq28(chrX:149563232-149570094)x0 http://identifiers.org/clinvar/145151 ^@ GRCh38/hg38 Xq28(chrX:149563232-149570094)x1 http://identifiers.org/clinvar/145152 ^@ GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x2 http://identifiers.org/clinvar/145153 ^@ GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x3 http://identifiers.org/clinvar/145154 ^@ GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x4 http://identifiers.org/clinvar/145155 ^@ GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x1 http://identifiers.org/clinvar/145156 ^@ GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x0 http://identifiers.org/clinvar/145157 ^@ GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x2 http://identifiers.org/clinvar/145158 ^@ GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x3 http://identifiers.org/clinvar/145159 ^@ GRCh38/hg38 Xq23(chrX:117275824-117332780)x0 http://identifiers.org/clinvar/145160 ^@ GRCh38/hg38 Xq25(chrX:126057696-126167905)x0 http://identifiers.org/clinvar/145161 ^@ GRCh38/hg38 Xq25(chrX:126057696-126167905)x1 http://identifiers.org/clinvar/145162 ^@ GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 http://identifiers.org/clinvar/145163 ^@ GRCh38/hg38 Xp22.33(chrX:948314-1152369)x3 http://identifiers.org/clinvar/145164 ^@ GRCh38/hg38 Xp11.22(chrX:53532771-53764152)x2 http://identifiers.org/clinvar/145165 ^@ GRCh38/hg38 Xp11.22(chrX:53532771-53764152)x3 http://identifiers.org/clinvar/145166 ^@ GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 http://identifiers.org/clinvar/145167 ^@ GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 http://identifiers.org/clinvar/145168 ^@ GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 http://identifiers.org/clinvar/145169 ^@ GRCh38/hg38 Xp22.33(chrX:667502-875341)x1 http://identifiers.org/clinvar/145170 ^@ GRCh38/hg38 Xq25(chrX:123859097-128717147)x3 http://identifiers.org/clinvar/145171 ^@ GRCh38/hg38 Xp22.11(chrX:23251335-23463809)x2 http://identifiers.org/clinvar/145172 ^@ GRCh38/hg38 Xq23(chrX:117007957-117061129)x0 http://identifiers.org/clinvar/145173 ^@ GRCh38/hg38 Xq25(chrX:126191293-126226243)x3 http://identifiers.org/clinvar/145174 ^@ GRCh38/hg38 Xp22.33(chrX:667502-1152369)x3 http://identifiers.org/clinvar/145175 ^@ GRCh38/hg38 Xq27.1(chrX:140526750-140959316)x3 http://identifiers.org/clinvar/145176 ^@ GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x3 http://identifiers.org/clinvar/145177 ^@ GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x2 http://identifiers.org/clinvar/145178 ^@ GRCh38/hg38 Yq11.21(chrY:11549246-11699355)x2 http://identifiers.org/clinvar/145179 ^@ GRCh38/hg38 Yp11.32-11.2(chrY:259759-736434)x3 http://identifiers.org/clinvar/145180 ^@ GRCh38/hg38 Yp11.32(chrY:20297-39498)x3 http://identifiers.org/clinvar/145181 ^@ GRCh38/hg38 Yp11.32(chrY:20297-39498)x1 http://identifiers.org/clinvar/145182 ^@ GRCh38/hg38 Yq11.221(chrY:13988013-13992240)x2 http://identifiers.org/clinvar/145183 ^@ GRCh38/hg38 Yq11.221(chrY:14050442-14076802)x2 http://identifiers.org/clinvar/145184 ^@ GRCh38/hg38 Yq11.221(chrY:13988013-14282011)x2 http://identifiers.org/clinvar/145185 ^@ GRCh38/hg38 Yq11.223(chrY:21927773-22091977)x3 http://identifiers.org/clinvar/145186 ^@ GRCh38/hg38 Yq11.21(chrY:11520247-11727435)x2 http://identifiers.org/clinvar/145187 ^@ GRCh38/hg38 Yp11.2(chrY:948314-1152369)x3 http://identifiers.org/clinvar/145188 ^@ GRCh38/hg38 Yq11.221(chrY:15159149-15172469)x2 http://identifiers.org/clinvar/145189 ^@ GRCh38/hg38 Yq11.221(chrY:13966017-14054658)x2 http://identifiers.org/clinvar/145190 ^@ GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x3 http://identifiers.org/clinvar/145191 ^@ GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x2 http://identifiers.org/clinvar/145192 ^@ GRCh38/hg38 Yq11.21(chrY:11466379-11728747)x2 http://identifiers.org/clinvar/145193 ^@ GRCh38/hg38 17p11.2(chr17:17406786-17441225)x1 http://identifiers.org/clinvar/145194 ^@ GRCh38/hg38 3p26.3(chr3:1079157-1260116)x3 http://identifiers.org/clinvar/145195 ^@ GRCh38/hg38 20q13.12(chr20:45722054-45741776)x1 http://identifiers.org/clinvar/145196 ^@ GRCh37/hg19 1q12-21.1(chr1:142594227-142642753)x1 http://identifiers.org/clinvar/145197 ^@ GRCh38/hg38 19q13.41(chr19:52824788-52849347)x3 http://identifiers.org/clinvar/145198 ^@ GRCh38/hg38 6q22.1(chr6:115004512-115191315)x3 http://identifiers.org/clinvar/145199 ^@ GRCh38/hg38 Yp11.2(chrY:820336-858435)x1 http://identifiers.org/clinvar/145200 ^@ GRCh38/hg38 6p12.3(chr6:48497131-48859721)x1 http://identifiers.org/clinvar/145201 ^@ GRCh38/hg38 7q11.23(chr7:73324677-73352304)x3 http://identifiers.org/clinvar/145202 ^@ GRCh38/hg38 19p13.3(chr19:1228275-1282856)x3 http://identifiers.org/clinvar/145203 ^@ GRCh38/hg38 Xq28(chrX:155971728-156004327)x1 http://identifiers.org/clinvar/145204 ^@ GRCh38/hg38 Yq12(chrY:57158248-57190847)x1 http://identifiers.org/clinvar/145205 ^@ GRCh38/hg38 1p36.33(chr1:1029317-1072906)x4 http://identifiers.org/clinvar/145206 ^@ GRCh38/hg38 1p36.33(chr1:1029317-1072906)x3 http://identifiers.org/clinvar/145207 ^@ GRCh38/hg38 Xq21.31(chrX:91959316-91991062)x1 http://identifiers.org/clinvar/145208 ^@ GRCh37/hg19 1q21.1(chr1:143134063-143284670)x3 http://identifiers.org/clinvar/145209 ^@ GRCh38/hg38 3q29(chr3:195654549-195699004)x3 http://identifiers.org/clinvar/145210 ^@ GRCh38/hg38 11q14.3(chr11:89898811-89923744)x1 http://identifiers.org/clinvar/145211 ^@ GRCh38/hg38 3p24.2(chr3:26019191-26238094)x1 http://identifiers.org/clinvar/145212 ^@ GRCh38/hg38 14q21.3(chr14:48317570-48437083)x1 http://identifiers.org/clinvar/145213 ^@ GRCh38/hg38 13q14.3-21.1(chr13:54579853-54883578)x1 http://identifiers.org/clinvar/145214 ^@ GRCh38/hg38 6p22.3(chr6:19479716-19570142)x3 http://identifiers.org/clinvar/145215 ^@ GRCh38/hg38 1q44(chr1:243520743-243531432)x3 http://identifiers.org/clinvar/145216 ^@ GRCh38/hg38 10q21.3(chr10:66684077-66756761)x1 http://identifiers.org/clinvar/145217 ^@ GRCh38/hg38 8p23.3(chr8:66046-106814)x3 http://identifiers.org/clinvar/145218 ^@ GRCh38/hg38 4p16.3(chr4:958618-1026629)x3 http://identifiers.org/clinvar/145219 ^@ GRCh38/hg38 15q26.3(chr15:101395679-101452091)x1 http://identifiers.org/clinvar/145220 ^@ GRCh38/hg38 3p12.2(chr3:82116407-82199434)x1 http://identifiers.org/clinvar/145221 ^@ GRCh38/hg38 3q26.1(chr3:164286799-164617339)x3 http://identifiers.org/clinvar/145222 ^@ GRCh38/hg38 5p15.33(chr5:346162-404606)x3 http://identifiers.org/clinvar/145223 ^@ GRCh38/hg38 5q14.3(chr5:85474402-86164693)x3 http://identifiers.org/clinvar/145224 ^@ GRCh38/hg38 13q31.3(chr13:91521052-91597567)x1 http://identifiers.org/clinvar/145225 ^@ GRCh38/hg38 21q21.2(chr21:23154277-23250240)x1 http://identifiers.org/clinvar/145226 ^@ GRCh38/hg38 9q31.2(chr9:105935122-106247033)x3 http://identifiers.org/clinvar/145227 ^@ GRCh38/hg38 1q44(chr1:248698904-248738419)x3 http://identifiers.org/clinvar/145228 ^@ GRCh38/hg38 4p16.3(chr4:975137-1026629)x3 http://identifiers.org/clinvar/145229 ^@ GRCh38/hg38 Xp22.31(chrX:6535231-7021831)x2 http://identifiers.org/clinvar/145230 ^@ GRCh38/hg38 Xp22.31(chrX:7860124-8129411)x2 http://identifiers.org/clinvar/145231 ^@ GRCh38/hg38 Xq28(chrX:154154679-154332155)x3 http://identifiers.org/clinvar/145232 ^@ GRCh38/hg38 15q13.1(chr15:28111211-28154050)x3 http://identifiers.org/clinvar/145233 ^@ GRCh38/hg38 1p21.1(chr1:105517749-105715876)x1 http://identifiers.org/clinvar/145234 ^@ GRCh38/hg38 19q13.42(chr19:54605095-54653329)x1 http://identifiers.org/clinvar/145235 ^@ GRCh38/hg38 5p15.33(chr5:234045-292564)x3 http://identifiers.org/clinvar/145236 ^@ GRCh38/hg38 15q26.1(chr15:93262301-93346577)x1 http://identifiers.org/clinvar/145237 ^@ GRCh38/hg38 Xq25(chrX:125968010-126153202)x0 http://identifiers.org/clinvar/145238 ^@ GRCh38/hg38 Xq25(chrX:125968010-126153202)x1 http://identifiers.org/clinvar/145239 ^@ GRCh38/hg38 Yq11.21(chrY:11901735-12368356)x2 http://identifiers.org/clinvar/145240 ^@ GRCh38/hg38 5q21.2-21.3(chr5:104996709-105137553)x1 http://identifiers.org/clinvar/145241 ^@ GRCh38/hg38 8q12.1(chr8:55813087-55967049)x3 http://identifiers.org/clinvar/145242 ^@ GRCh38/hg38 3q26.1(chr3:161717568-161802775)x1 http://identifiers.org/clinvar/145243 ^@ GRCh38/hg38 16p13.3(chr16:636673-722554)x3 http://identifiers.org/clinvar/145244 ^@ GRCh38/hg38 6q14.1(chr6:77642218-78053462)x3 http://identifiers.org/clinvar/145245 ^@ GRCh38/hg38 16p13.3(chr16:636673-722554)x1 http://identifiers.org/clinvar/145246 ^@ GRCh38/hg38 16p11.2(chr16:29714273-29727067)x1 http://identifiers.org/clinvar/145247 ^@ GRCh38/hg38 Xp22.2(chrX:13381794-13477510)x3 http://identifiers.org/clinvar/145248 ^@ GRCh38/hg38 8p22(chr8:14714802-14757672)x1 http://identifiers.org/clinvar/145249 ^@ GRCh38/hg38 6q15(chr6:91481909-91795455)x3 http://identifiers.org/clinvar/145250 ^@ GRCh38/hg38 9p24.3(chr9:271257-314969)x3 http://identifiers.org/clinvar/145251 ^@ GRCh38/hg38 3q26.1(chr3:163087562-163177968)x1 http://identifiers.org/clinvar/145252 ^@ GRCh38/hg38 Yq12(chrY:56890578-57212647)x3 http://identifiers.org/clinvar/145253 ^@ GRCh38/hg38 11q14.3(chr11:92560681-92664445)x1 http://identifiers.org/clinvar/145254 ^@ GRCh38/hg38 19p13.3(chr19:61112-202952)x3 http://identifiers.org/clinvar/145255 ^@ GRCh38/hg38 13q21.32(chr13:65369069-65917094)x3 http://identifiers.org/clinvar/145256 ^@ GRCh38/hg38 17p11.2(chr17:16624420-16819465)x3 http://identifiers.org/clinvar/145257 ^@ GRCh38/hg38 2p16.2(chr2:52725642-52829493)x1 http://identifiers.org/clinvar/145258 ^@ GRCh38/hg38 2q32.1(chr2:186215422-186309002)x1 http://identifiers.org/clinvar/145259 ^@ GRCh38/hg38 19q11(chr19:27781589-27992542)x3 http://identifiers.org/clinvar/145260 ^@ GRCh38/hg38 14q12(chr14:27754886-27787614)x3 http://identifiers.org/clinvar/145261 ^@ GRCh38/hg38 4q35.2(chr4:190022219-190091407)x3 http://identifiers.org/clinvar/145262 ^@ GRCh38/hg38 7p21.3(chr7:13116890-13262814)x1 http://identifiers.org/clinvar/145263 ^@ GRCh38/hg38 6q11.1(chr6:61544320-61640953)x1 http://identifiers.org/clinvar/145264 ^@ GRCh38/hg38 7p21.1(chr7:16838053-17126821)x3 http://identifiers.org/clinvar/145265 ^@ GRCh38/hg38 12q21.31(chr12:83634991-84032225)x3 http://identifiers.org/clinvar/145266 ^@ GRCh38/hg38 13q21.32(chr13:66753669-66774687)x1 http://identifiers.org/clinvar/145267 ^@ GRCh38/hg38 Xq25(chrX:128196443-128438818)x0 http://identifiers.org/clinvar/145268 ^@ GRCh38/hg38 5q15(chr5:97716206-97793969)x1 http://identifiers.org/clinvar/145269 ^@ GRCh38/hg38 10q25.1(chr10:108910625-109763287)x3 http://identifiers.org/clinvar/145270 ^@ GRCh38/hg38 Xq28(chrX:155327369-155348480)x4 http://identifiers.org/clinvar/145271 ^@ GRCh38/hg38 Xq28(chrX:155327369-155348480)x2 http://identifiers.org/clinvar/145272 ^@ GRCh38/hg38 Xq28(chrX:155442674-155492709)x2 http://identifiers.org/clinvar/145273 ^@ GRCh38/hg38 Xq28(chrX:155442674-155492709)x4 http://identifiers.org/clinvar/145274 ^@ GRCh38/hg38 11q21-22.1(chr11:96937589-97402356)x3 http://identifiers.org/clinvar/145275 ^@ GRCh38/hg38 16p13.3(chr16:16203-32412)x3 http://identifiers.org/clinvar/145276 ^@ GRCh38/hg38 16p13.3(chr16:16203-32412)x1 http://identifiers.org/clinvar/145277 ^@ GRCh38/hg38 Xp22.32(chrX:4606465-5110307)x3 http://identifiers.org/clinvar/145278 ^@ GRCh38/hg38 8q24.3(chr8:139311194-139387068)x3 http://identifiers.org/clinvar/145279 ^@ GRCh38/hg38 5p15.2(chr5:12819940-13030492)x3 http://identifiers.org/clinvar/145280 ^@ GRCh38/hg38 5p15.33(chr5:554159-607509)x3 http://identifiers.org/clinvar/145281 ^@ GRCh38/hg38 12q21.1(chr12:73944931-74026900)x1 http://identifiers.org/clinvar/145282 ^@ GRCh38/hg38 15q21.3(chr15:53553175-53609466)x1 http://identifiers.org/clinvar/145283 ^@ GRCh38/hg38 1p11.2(chr1:121442410-121608005)x3 http://identifiers.org/clinvar/145284 ^@ GRCh38/hg38 11q13.2(chr11:67743751-67875746)x3 http://identifiers.org/clinvar/145285 ^@ GRCh38/hg38 Xq26.3(chrX:137178735-137289835)x2 http://identifiers.org/clinvar/145286 ^@ GRCh38/hg38 8p23.2-23.1(chr8:6185679-6303909)x1 http://identifiers.org/clinvar/145287 ^@ GRCh38/hg38 4q32.3(chr4:167910776-168056380)x1 http://identifiers.org/clinvar/145288 ^@ GRCh38/hg38 3p26.1(chr3:4052583-4189675)x1 http://identifiers.org/clinvar/145289 ^@ GRCh38/hg38 8p23.2(chr8:4867646-4891747)x1 http://identifiers.org/clinvar/145290 ^@ GRCh38/hg38 2q32.1(chr2:184109206-184226183)x3 http://identifiers.org/clinvar/145291 ^@ GRCh38/hg38 12q23.1(chr12:99564637-99611495)x1 http://identifiers.org/clinvar/145292 ^@ GRCh38/hg38 5q35.3(chr5:181382803-181448620)x3 http://identifiers.org/clinvar/145293 ^@ GRCh38/hg38 19p13.3(chr19:127601-138477)x3 http://identifiers.org/clinvar/145294 ^@ GRCh38/hg38 7q35(chr7:145893865-146084483)x1 http://identifiers.org/clinvar/145295 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 http://identifiers.org/clinvar/145296 ^@ GRCh38/hg38 4q34.3(chr4:180303389-181006406)x1 http://identifiers.org/clinvar/145297 ^@ GRCh38/hg38 20q12(chr20:42596264-42683848)x1 http://identifiers.org/clinvar/145298 ^@ GRCh38/hg38 5p14.3(chr5:21288685-21377167)x3 http://identifiers.org/clinvar/145299 ^@ GRCh38/hg38 Yp11.2(chrY:2343433-2443358)x3 http://identifiers.org/clinvar/145300 ^@ GRCh38/hg38 15q25.3(chr15:85228050-85593726)x3 http://identifiers.org/clinvar/145301 ^@ GRCh38/hg38 9p23(chr9:11659296-11927681)x1 http://identifiers.org/clinvar/145302 ^@ GRCh38/hg38 2p24.3(chr2:14041885-14138712)x3 http://identifiers.org/clinvar/145303 ^@ GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3 http://identifiers.org/clinvar/145304 ^@ GRCh38/hg38 Xp22.33(chrX:1636755-1854368)x3 http://identifiers.org/clinvar/145305 ^@ GRCh38/hg38 2q37.3(chr2:241978046-242005839)x1 http://identifiers.org/clinvar/145308 ^@ GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 http://identifiers.org/clinvar/145310 ^@ GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1 http://identifiers.org/clinvar/145312 ^@ GRCh38/hg38 7q35(chr7:146829009-147037760)x1 http://identifiers.org/clinvar/145313 ^@ GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 http://identifiers.org/clinvar/145314 ^@ GRCh38/hg38 9p24.3(chr9:204090-280321)x3 http://identifiers.org/clinvar/145315 ^@ GRCh38/hg38 14q32.33(chr14:106396212-106633188)x3 http://identifiers.org/clinvar/145316 ^@ GRCh38/hg38 Xp22.33(chrX:1636755-2597099)x3 http://identifiers.org/clinvar/145317 ^@ GRCh38/hg38 2q35(chr2:214785851-215383000)x3 http://identifiers.org/clinvar/145319 ^@ GRCh38/hg38 15q13.3(chr15:31772780-32217731)x3 http://identifiers.org/clinvar/145320 ^@ GRCh38/hg38 15q13.3(chr15:31772780-32217731)x1 http://identifiers.org/clinvar/145321 ^@ GRCh38/hg38 12q24.33(chr12:133187321-133196807)x3 http://identifiers.org/clinvar/145322 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 http://identifiers.org/clinvar/145323 ^@ GRCh38/hg38 12q22(chr12:93374113-94267175)x3 http://identifiers.org/clinvar/145324 ^@ GRCh38/hg38 5p15.33(chr5:369755-574780)x3 http://identifiers.org/clinvar/145327 ^@ GRCh38/hg38 5q13.2(chr5:69942862-71291192)x1 http://identifiers.org/clinvar/145328 ^@ GRCh38/hg38 2q37.3(chr2:241904659-242065306)x1 http://identifiers.org/clinvar/145329 ^@ GRCh38/hg38 8q23.1(chr8:106840281-107356143)x3 http://identifiers.org/clinvar/145330 ^@ GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 http://identifiers.org/clinvar/145331 ^@ GRCh38/hg38 15q13.3(chr15:31772780-32150923)x3 http://identifiers.org/clinvar/145332 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 http://identifiers.org/clinvar/145334 ^@ GRCh38/hg38 11p12(chr11:36624063-37649248)x3 http://identifiers.org/clinvar/145335 ^@ GRCh38/hg38 7p22.3(chr7:120242-180597)x1 http://identifiers.org/clinvar/145336 ^@ GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 http://identifiers.org/clinvar/145337 ^@ GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 http://identifiers.org/clinvar/145338 ^@ GRCh38/hg38 10q26.3(chr10:133536160-133620609)x3 http://identifiers.org/clinvar/145339 ^@ GRCh38/hg38 Xp11.4(chrX:38629338-38685970)x3 http://identifiers.org/clinvar/145340 ^@ GRCh38/hg38 21q21.1(chr21:21297214-21424079)x1 http://identifiers.org/clinvar/145341 ^@ GRCh38/hg38 5q13.2(chr5:70547824-71291192)x1 http://identifiers.org/clinvar/145342 ^@ GRCh38/hg38 18p11.32(chr18:605175-1371075)x3 http://identifiers.org/clinvar/145343 ^@ GRCh38/hg38 8q11.1(chr8:46031340-46792071)x1 http://identifiers.org/clinvar/145344 ^@ GRCh38/hg38 Xp21.1(chrX:31856886-32482971)x1 http://identifiers.org/clinvar/145345 ^@ GRCh38/hg38 8p23.1(chr8:7512656-8222390)x1 http://identifiers.org/clinvar/145346 ^@ GRCh38/hg38 8p23.1(chr8:7512656-8222390)x3 http://identifiers.org/clinvar/145347 ^@ GRCh38/hg38 16p13.3(chr16:6717347-6751660)x1 http://identifiers.org/clinvar/145350 ^@ GRCh38/hg38 7q36.3(chr7:159254286-159265346)x1 http://identifiers.org/clinvar/145352 ^@ GRCh38/hg38 Xq21.31(chrX:88622231-88893669)x0 http://identifiers.org/clinvar/145353 ^@ GRCh38/hg38 3q13.33(chr3:120286468-121375425)x3 http://identifiers.org/clinvar/145354 ^@ GRCh38/hg38 5p15.33(chr5:100239-182566)x3 http://identifiers.org/clinvar/145355 ^@ GRCh38/hg38 Xp22.2(chrX:10792013-10806827)x2 http://identifiers.org/clinvar/145356 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 http://identifiers.org/clinvar/145357 ^@ GRCh38/hg38 Xp21.1(chrX:31744863-31846787)x0 http://identifiers.org/clinvar/145359 ^@ GRCh38/hg38 Xp21.1(chrX:31744863-31846787)x1 http://identifiers.org/clinvar/145360 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 http://identifiers.org/clinvar/145361 ^@ GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 http://identifiers.org/clinvar/145362 ^@ GRCh38/hg38 1q43(chr1:238351119-238702250)x3 http://identifiers.org/clinvar/145363 ^@ GRCh38/hg38 1q44(chr1:248176671-248400557)x1 http://identifiers.org/clinvar/145365 ^@ GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1 http://identifiers.org/clinvar/145366 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/145368 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/145369 ^@ GRCh38/hg38 1q21.1(chr1:145138148-146401981)x1 http://identifiers.org/clinvar/145370 ^@ GRCh38/hg38 6p25.3(chr6:259531-439401)x3 http://identifiers.org/clinvar/145371 ^@ GRCh38/hg38 9q33.2(chr9:120938029-121183321)x1 http://identifiers.org/clinvar/145372 ^@ GRCh38/hg38 Xp22.2(chrX:14739585-15125185)x2 http://identifiers.org/clinvar/145373 ^@ GRCh38/hg38 6p25.3(chr6:241739-339797)x3 http://identifiers.org/clinvar/145374 ^@ GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 http://identifiers.org/clinvar/145375 ^@ GRCh38/hg38 6p25.3(chr6:255324-339797)x3 http://identifiers.org/clinvar/145377 ^@ GRCh38/hg38 5q35.3(chr5:181149812-181177344)x3 http://identifiers.org/clinvar/145378 ^@ GRCh38/hg38 2q37.3(chr2:242027664-242065306)x1 http://identifiers.org/clinvar/145379 ^@ GRCh38/hg38 4q13.2(chr4:68410654-68727128)x3 http://identifiers.org/clinvar/145380 ^@ GRCh38/hg38 11q12.1(chr11:56149822-56770518)x3 http://identifiers.org/clinvar/145381 ^@ GRCh38/hg38 2p25.3(chr2:134623-172636)x1 http://identifiers.org/clinvar/145382 ^@ GRCh38/hg38 8p23.3(chr8:451226-611272)x3 http://identifiers.org/clinvar/145383 ^@ GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3 http://identifiers.org/clinvar/145384 ^@ GRCh38/hg38 6p25.3(chr6:293438-339797)x3 http://identifiers.org/clinvar/145385 ^@ GRCh38/hg38 6p25.3(chr6:293438-339797)x1 http://identifiers.org/clinvar/145386 ^@ GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1 http://identifiers.org/clinvar/145387 ^@ GRCh37/hg19 10q11.22(chr10:49002272-49431037)x3 http://identifiers.org/clinvar/145388 ^@ GRCh38/hg38 4p16.3(chr4:149300-191519)x1 http://identifiers.org/clinvar/145389 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 http://identifiers.org/clinvar/145391 ^@ GRCh38/hg38 2p11.2(chr2:87148950-87705910)x3 http://identifiers.org/clinvar/145392 ^@ GRCh38/hg38 2p11.2(chr2:87148950-87705910)x1 http://identifiers.org/clinvar/145394 ^@ GRCh38/hg38 12q12(chr12:40892503-41334848)x3 http://identifiers.org/clinvar/145395 ^@ GRCh38/hg38 1p36.33(chr1:844353-911241)x3 http://identifiers.org/clinvar/145397 ^@ GRCh38/hg38 5q13.2(chr5:69942862-71090767)x1 http://identifiers.org/clinvar/145398 ^@ GRCh38/hg38 6q26(chr6:162232971-162708613)x3 http://identifiers.org/clinvar/145399 ^@ GRCh38/hg38 1q44(chr1:245542907-246492051)x3 http://identifiers.org/clinvar/145400 ^@ GRCh38/hg38 16p13.3(chr16:6216392-6224721)x1 http://identifiers.org/clinvar/145401 ^@ GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 http://identifiers.org/clinvar/145403 ^@ GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 http://identifiers.org/clinvar/145405 ^@ GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1 http://identifiers.org/clinvar/145406 ^@ GRCh38/hg38 5q13.2(chr5:70076623-71032915)x1 http://identifiers.org/clinvar/145407 ^@ GRCh38/hg38 2q13(chr2:110104897-110321488)x1 http://identifiers.org/clinvar/145408 ^@ GRCh38/hg38 Xp22.33(chrX:1059289-1549195)x3 http://identifiers.org/clinvar/145409 ^@ GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 http://identifiers.org/clinvar/145411 ^@ GRCh38/hg38 14q32.33(chr14:106501945-106774412)x3 http://identifiers.org/clinvar/145412 ^@ GRCh38/hg38 Xp21.1(chrX:31518960-31601824)x2 http://identifiers.org/clinvar/145413 ^@ GRCh38/hg38 16p13.3(chr16:6778134-6800861)x3 http://identifiers.org/clinvar/145414 ^@ GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 http://identifiers.org/clinvar/145417 ^@ GRCh38/hg38 2q37.3(chr2:241981931-242005839)x1 http://identifiers.org/clinvar/145418 ^@ GRCh38/hg38 14q32.33(chr14:106467689-106565845)x3 http://identifiers.org/clinvar/145421 ^@ GRCh38/hg38 15q11.2(chr15:22572783-23066575)x1 http://identifiers.org/clinvar/145422 ^@ GRCh38/hg38 15q11.2(chr15:22572783-23107431)x3 http://identifiers.org/clinvar/145424 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106774410)x1 http://identifiers.org/clinvar/145425 ^@ GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1 http://identifiers.org/clinvar/145426 ^@ GRCh38/hg38 2q37.3(chr2:241978046-242011489)x3 http://identifiers.org/clinvar/145427 ^@ GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3 http://identifiers.org/clinvar/145428 ^@ GRCh38/hg38 4q28.3(chr4:130788517-131704728)x3 http://identifiers.org/clinvar/145429 ^@ GRCh38/hg38 9p24.3(chr9:204090-381572)x3 http://identifiers.org/clinvar/145430 ^@ GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 http://identifiers.org/clinvar/145432 ^@ GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 http://identifiers.org/clinvar/145434 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7948705)x3 http://identifiers.org/clinvar/145436 ^@ GRCh38/hg38 7q36.3(chr7:159325838-159335865)x1 http://identifiers.org/clinvar/145438 ^@ GRCh38/hg38 Yp11.31-11.2(chrY:302967-1581104)x0 http://identifiers.org/clinvar/145439 ^@ GRCh38/hg38 11q25(chr11:134867672-134946519)x3 http://identifiers.org/clinvar/145440 ^@ GRCh38/hg38 2q37.3(chr2:241914448-242042673)x3 http://identifiers.org/clinvar/145441 ^@ GRCh38/hg38 Xp22.13(chrX:18560628-18588106)x2 http://identifiers.org/clinvar/145442 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/145443 ^@ GRCh38/hg38 2q13(chr2:110025674-110321488)x3 http://identifiers.org/clinvar/145445 ^@ GRCh38/hg38 14q31.2-31.3(chr14:83671884-84891079)x3 http://identifiers.org/clinvar/145446 ^@ GRCh38/hg38 14q32.33(chr14:106699079-106774412)x3 http://identifiers.org/clinvar/145448 ^@ GRCh38/hg38 Xp11.3(chrX:47470810-47475689)x1 http://identifiers.org/clinvar/145449 ^@ GRCh38/hg38 Xq28(chrX:154022039-154312841)x2 http://identifiers.org/clinvar/145450 ^@ GRCh38/hg38 14q32.33(chr14:106685059-106774412)x3 http://identifiers.org/clinvar/145451 ^@ GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1 http://identifiers.org/clinvar/145453 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3 http://identifiers.org/clinvar/145454 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1 http://identifiers.org/clinvar/145455 ^@ GRCh38/hg38 19p12(chr19:23442005-23860325)x1 http://identifiers.org/clinvar/145456 ^@ GRCh38/hg38 11q14.3(chr11:88744329-89285175)x1 http://identifiers.org/clinvar/145457 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/145458 ^@ GRCh38/hg38 17p11.2-11.1(chr17:22209684-22706517)x3 http://identifiers.org/clinvar/145459 ^@ GRCh38/hg38 17p11.2-11.1(chr17:22209684-22706517)x1 http://identifiers.org/clinvar/145460 ^@ GRCh38/hg38 8p23.1(chr8:9240101-9687009)x3 http://identifiers.org/clinvar/145461 ^@ GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3 http://identifiers.org/clinvar/145463 ^@ GRCh38/hg38 1q25.2(chr1:180062186-180251588)x3 http://identifiers.org/clinvar/145464 ^@ GRCh38/hg38 8p23.1(chr8:7195674-7834323)x1 http://identifiers.org/clinvar/145465 ^@ GRCh38/hg38 7q11.23(chr7:76584731-76994096)x3 http://identifiers.org/clinvar/145466 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106766971)x1 http://identifiers.org/clinvar/145467 ^@ GRCh38/hg38 Xp22.31(chrX:7411158-8037085)x3 http://identifiers.org/clinvar/145468 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 http://identifiers.org/clinvar/145469 ^@ GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 http://identifiers.org/clinvar/145470 ^@ GRCh38/hg38 7q11.21(chr7:62736187-63230576)x3 http://identifiers.org/clinvar/145471 ^@ GRCh38/hg38 3p26.3(chr3:2524709-2540060)x3 http://identifiers.org/clinvar/145472 ^@ GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 http://identifiers.org/clinvar/145473 ^@ GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 http://identifiers.org/clinvar/145474 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 http://identifiers.org/clinvar/145475 ^@ GRCh38/hg38 5p13.2-13.1(chr5:37907791-38426506)x3 http://identifiers.org/clinvar/145476 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0 http://identifiers.org/clinvar/145477 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35193545-35492994)x3 http://identifiers.org/clinvar/145479 ^@ GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 http://identifiers.org/clinvar/145480 ^@ GRCh38/hg38 11q21(chr11:94324282-96081666)x3 http://identifiers.org/clinvar/145481 ^@ GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 http://identifiers.org/clinvar/145482 ^@ GRCh38/hg38 6p25.3(chr6:274686-339797)x3 http://identifiers.org/clinvar/145483 ^@ GRCh38/hg38 4q28.3-31.1(chr4:137507831-139300924)x1 http://identifiers.org/clinvar/145484 ^@ GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 http://identifiers.org/clinvar/145485 ^@ GRCh38/hg38 4p16.3(chr4:48637-66424)x1 http://identifiers.org/clinvar/145486 ^@ GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1 http://identifiers.org/clinvar/145487 ^@ GRCh38/hg38 12p11.23-11.22(chr12:27153357-27607134)x1 http://identifiers.org/clinvar/145488 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/145489 ^@ GRCh38/hg38 18q22.2-22.3(chr18:70849798-71489532)x3 http://identifiers.org/clinvar/145490 ^@ GRCh38/hg38 Xq13.2(chrX:73840923-74047069)x2 http://identifiers.org/clinvar/145491 ^@ GRCh38/hg38 8q24.3(chr8:144992787-145049504)x1 http://identifiers.org/clinvar/145496 ^@ GRCh38/hg38 15q13.1(chr15:28314232-28840742)x1 http://identifiers.org/clinvar/145497 ^@ GRCh38/hg38 4p16.3(chr4:66365-133536)x3 http://identifiers.org/clinvar/145499 ^@ GRCh38/hg38 Xq28(chrX:155745034-155996392)x0 http://identifiers.org/clinvar/145500 ^@ GRCh38/hg38 2q37.3(chr2:241914448-242016199)x3 http://identifiers.org/clinvar/145501 ^@ GRCh38/hg38 2q37.3(chr2:241914448-242016199)x1 http://identifiers.org/clinvar/145502 ^@ GRCh38/hg38 10q26.3(chr10:133456761-133563886)x3 http://identifiers.org/clinvar/145503 ^@ GRCh38/hg38 10q26.3(chr10:133456761-133563886)x1 http://identifiers.org/clinvar/145504 ^@ GRCh38/hg38 Xp22.31(chrX:8629775-8730225)x2 http://identifiers.org/clinvar/145505 ^@ GRCh38/hg38 2q37.3(chr2:241914448-242005839)x1 http://identifiers.org/clinvar/145508 ^@ GRCh38/hg38 2q37.3(chr2:242011430-242126251)x1 http://identifiers.org/clinvar/145509 ^@ GRCh38/hg38 3q26.1(chr3:164252870-164652416)x1 http://identifiers.org/clinvar/145510 ^@ GRCh38/hg38 2q37.3(chr2:241937914-242011489)x3 http://identifiers.org/clinvar/145511 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738659-43237562)x1 http://identifiers.org/clinvar/145512 ^@ GRCh38/hg38 3p26.3(chr3:2171614-2431494)x3 http://identifiers.org/clinvar/145514 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 http://identifiers.org/clinvar/145515 ^@ GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1 http://identifiers.org/clinvar/145518 ^@ GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 http://identifiers.org/clinvar/145519 ^@ GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 http://identifiers.org/clinvar/145522 ^@ GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3 http://identifiers.org/clinvar/145523 ^@ GRCh38/hg38 4q32.3(chr4:163908614-164509220)x3 http://identifiers.org/clinvar/145525 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 http://identifiers.org/clinvar/145526 ^@ GRCh38/hg38 6q14.1(chr6:80173984-80425274)x1 http://identifiers.org/clinvar/145529 ^@ GRCh38/hg38 6q12(chr6:65873428-66763618)x1 http://identifiers.org/clinvar/145530 ^@ GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1 http://identifiers.org/clinvar/145532 ^@ GRCh38/hg38 9p21.1(chr9:28648339-28932452)x1 http://identifiers.org/clinvar/145533 ^@ GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3 http://identifiers.org/clinvar/145534 ^@ GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3 http://identifiers.org/clinvar/145535 ^@ GRCh38/hg38 4q31.21(chr4:141594536-142581835)x3 http://identifiers.org/clinvar/145536 ^@ GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 http://identifiers.org/clinvar/145537 ^@ GRCh38/hg38 1p21.1(chr1:103108301-103564967)x3 http://identifiers.org/clinvar/145538 ^@ GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3 http://identifiers.org/clinvar/145539 ^@ GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3 http://identifiers.org/clinvar/145540 ^@ GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3 http://identifiers.org/clinvar/145541 ^@ GRCh38/hg38 16p13.3(chr16:3726714-3759009)x1 http://identifiers.org/clinvar/145542 ^@ GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 http://identifiers.org/clinvar/145546 ^@ GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1 http://identifiers.org/clinvar/145547 ^@ GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1 http://identifiers.org/clinvar/145549 ^@ GRCh38/hg38 Xp11.4(chrX:40075793-40934203)x2 http://identifiers.org/clinvar/145550 ^@ GRCh38/hg38 14q24.2(chr14:71407991-71662004)x1 http://identifiers.org/clinvar/145551 ^@ GRCh38/hg38 2p25.3(chr2:3522147-3849658)x3 http://identifiers.org/clinvar/145552 ^@ GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3 http://identifiers.org/clinvar/145553 ^@ GRCh38/hg38 2q33.1-33.2(chr2:202445130-202631487)x1 http://identifiers.org/clinvar/145554 ^@ GRCh38/hg38 18q21.32-21.33(chr18:60667028-61668269)x1 http://identifiers.org/clinvar/145555 ^@ GRCh38/hg38 10p14(chr10:10750899-11713049)x1 http://identifiers.org/clinvar/145556 ^@ GRCh38/hg38 2p12-11.2(chr2:82224116-83882899)x1 http://identifiers.org/clinvar/145558 ^@ GRCh38/hg38 1p36.33(chr1:911300-955624)x1 http://identifiers.org/clinvar/145560 ^@ GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3 http://identifiers.org/clinvar/145562 ^@ GRCh38/hg38 Xq21.31(chrX:88622228-88893649)x0 http://identifiers.org/clinvar/145567 ^@ GRCh38/hg38 5q35.2(chr5:175600686-175811463)x1 http://identifiers.org/clinvar/145568 ^@ GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3 http://identifiers.org/clinvar/145570 ^@ GRCh38/hg38 5p15.31(chr5:9143642-9402758)x3 http://identifiers.org/clinvar/145573 ^@ GRCh38/hg38 18q22.1(chr18:66558715-67132031)x1 http://identifiers.org/clinvar/145574 ^@ GRCh38/hg38 Xp22.33(chrX:1248646-2363996)x3 http://identifiers.org/clinvar/145575 ^@ GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 http://identifiers.org/clinvar/145576 ^@ GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 http://identifiers.org/clinvar/145578 ^@ GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1 http://identifiers.org/clinvar/145579 ^@ GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 http://identifiers.org/clinvar/145582 ^@ GRCh38/hg38 18q21.2(chr18:55092114-55294739)x1 http://identifiers.org/clinvar/145584 ^@ GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 http://identifiers.org/clinvar/145585 ^@ GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3 http://identifiers.org/clinvar/145586 ^@ GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3 http://identifiers.org/clinvar/145587 ^@ GRCh38/hg38 20p13(chr20:3177313-3734506)x1 http://identifiers.org/clinvar/145588 ^@ GRCh38/hg38 9p24.1-23(chr9:8961722-9486652)x1 http://identifiers.org/clinvar/145593 ^@ GRCh38/hg38 9p24.3(chr9:266045-381489)x1 http://identifiers.org/clinvar/145595 ^@ GRCh38/hg38 1q25.2-25.3(chr1:180210306-180309409)x3 http://identifiers.org/clinvar/145596 ^@ GRCh38/hg38 6q21(chr6:111948842-112906602)x3 http://identifiers.org/clinvar/145597 ^@ GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3 http://identifiers.org/clinvar/145598 ^@ GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3 http://identifiers.org/clinvar/145600 ^@ GRCh38/hg38 8p21.3(chr8:19864924-20015601)x1 http://identifiers.org/clinvar/145601 ^@ GRCh38/hg38 4q31.23(chr4:147598674-147996432)x3 http://identifiers.org/clinvar/145602 ^@ GRCh38/hg38 14q13.3(chr14:36662199-36671907)x3 http://identifiers.org/clinvar/145603 ^@ GRCh38/hg38 Xp22.2(chrX:15946117-16479154)x2 http://identifiers.org/clinvar/145604 ^@ GRCh38/hg38 1p36.33(chr1:932163-1792271)x4 http://identifiers.org/clinvar/145605 ^@ GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 http://identifiers.org/clinvar/145606 ^@ GRCh38/hg38 Xq12(chrX:66408361-66950527)x3 http://identifiers.org/clinvar/145608 ^@ GRCh38/hg38 7p12.2(chr7:49669048-50360016)x3 http://identifiers.org/clinvar/145609 ^@ GRCh38/hg38 8p23.2-23.1(chr8:5812730-6366784)x1 http://identifiers.org/clinvar/145610 ^@ GRCh38/hg38 9p22.1-21.3(chr9:19748333-19993828)x1 http://identifiers.org/clinvar/145611 ^@ GRCh38/hg38 7q11.22(chr7:70792749-72444391)x1 http://identifiers.org/clinvar/145612 ^@ GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 http://identifiers.org/clinvar/145613 ^@ GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 http://identifiers.org/clinvar/145614 ^@ GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 http://identifiers.org/clinvar/145615 ^@ GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1 http://identifiers.org/clinvar/145616 ^@ GRCh38/hg38 8p11.23-11.21(chr8:38065927-40341650)x1 http://identifiers.org/clinvar/145617 ^@ GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1 http://identifiers.org/clinvar/145618 ^@ GRCh38/hg38 2p16.3(chr2:50498591-50710365)x1 http://identifiers.org/clinvar/145619 ^@ GRCh38/hg38 2p16.3(chr2:50453657-50710365)x1 http://identifiers.org/clinvar/145620 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1 http://identifiers.org/clinvar/145621 ^@ GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1 http://identifiers.org/clinvar/145622 ^@ GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 http://identifiers.org/clinvar/145623 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 http://identifiers.org/clinvar/145624 ^@ GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 http://identifiers.org/clinvar/145626 ^@ GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1 http://identifiers.org/clinvar/145627 ^@ GRCh38/hg38 17q25.3(chr17:82911614-83086677)x1 http://identifiers.org/clinvar/145628 ^@ GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1 http://identifiers.org/clinvar/145632 ^@ GRCh38/hg38 16p12.3(chr16:20229045-20627132)x1 http://identifiers.org/clinvar/145633 ^@ GRCh38/hg38 15q21.1(chr15:46187987-46736754)x1 http://identifiers.org/clinvar/145640 ^@ GRCh38/hg38 7q31.32(chr7:122772439-123346205)x3 http://identifiers.org/clinvar/145641 ^@ GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1 http://identifiers.org/clinvar/145642 ^@ GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 http://identifiers.org/clinvar/145643 ^@ GRCh38/hg38 17p13.3(chr17:198748-2685361)x1 http://identifiers.org/clinvar/145644 ^@ GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 http://identifiers.org/clinvar/145645 ^@ GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1 http://identifiers.org/clinvar/145646 ^@ GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1 http://identifiers.org/clinvar/145647 ^@ GRCh38/hg38 8p23.2(chr8:4675466-5318854)x1 http://identifiers.org/clinvar/145648 ^@ GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1 http://identifiers.org/clinvar/145649 ^@ GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 http://identifiers.org/clinvar/145651 ^@ GRCh38/hg38 9p23(chr9:12387840-12984159)x3 http://identifiers.org/clinvar/145652 ^@ GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 http://identifiers.org/clinvar/145653 ^@ GRCh38/hg38 2p16.3(chr2:50915711-50999091)x1 http://identifiers.org/clinvar/145654 ^@ GRCh38/hg38 4q13.1(chr4:61178277-62895417)x1 http://identifiers.org/clinvar/145657 ^@ GRCh38/hg38 13q12.11-12.12(chr13:22091310-23146964)x3 http://identifiers.org/clinvar/145659 ^@ GRCh38/hg38 3p26.3(chr3:1880775-2143591)x3 http://identifiers.org/clinvar/145660 ^@ GRCh38/hg38 3p26.1(chr3:4520943-4952817)x3 http://identifiers.org/clinvar/145661 ^@ GRCh38/hg38 16q23.1(chr16:77637681-78153207)x3 http://identifiers.org/clinvar/145663 ^@ GRCh38/hg38 11p11.2(chr11:44130090-44206877)x3 http://identifiers.org/clinvar/145664 ^@ GRCh38/hg38 18p11.32-11.31(chr18:2793029-3153983)x3 http://identifiers.org/clinvar/145665 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 http://identifiers.org/clinvar/145666 ^@ GRCh38/hg38 19q11(chr19:27362299-27940935)x4 http://identifiers.org/clinvar/145667 ^@ GRCh38/hg38 8p23.1(chr8:9180998-9254812)x1 http://identifiers.org/clinvar/145668 ^@ GRCh38/hg38 11q25(chr11:134946367-135020905)x3 http://identifiers.org/clinvar/145669 ^@ GRCh38/hg38 Xq21.31(chrX:87173532-87218675)x1 http://identifiers.org/clinvar/145670 ^@ GRCh38/hg38 3p26.1(chr3:4149345-4282551)x1 http://identifiers.org/clinvar/145671 ^@ GRCh38/hg38 2q32.3(chr2:193519778-193853906)x1 http://identifiers.org/clinvar/145672 ^@ GRCh38/hg38 8q21.11(chr8:72684692-72723399)x3 http://identifiers.org/clinvar/145673 ^@ GRCh38/hg38 15q26.1(chr15:93607405-93674817)x1 http://identifiers.org/clinvar/145674 ^@ GRCh38/hg38 1p11.2(chr1:121416694-121608005)x4 http://identifiers.org/clinvar/145675 ^@ GRCh38/hg38 14q21.3(chr14:48317570-48422383)x1 http://identifiers.org/clinvar/145676 ^@ GRCh38/hg38 3p26.3(chr3:1880775-1920995)x1 http://identifiers.org/clinvar/145677 ^@ GRCh38/hg38 Xp22.33(chrX:3052802-3222881)x3 http://identifiers.org/clinvar/145678 ^@ GRCh38/hg38 10q11.21(chr10:44752237-44835829)x3 http://identifiers.org/clinvar/145679 ^@ GRCh38/hg38 8q21.2(chr8:83820378-84135153)x3 http://identifiers.org/clinvar/145680 ^@ GRCh38/hg38 4p15.33(chr4:12998655-13069906)x3 http://identifiers.org/clinvar/145681 ^@ GRCh38/hg38 5p12(chr5:45935267-46055335)x3 http://identifiers.org/clinvar/145682 ^@ GRCh38/hg38 8p23.2(chr8:4479463-4557063)x1 http://identifiers.org/clinvar/145683 ^@ GRCh38/hg38 1p12(chr1:120026791-120092791)x3 http://identifiers.org/clinvar/145684 ^@ GRCh38/hg38 Xq28(chrX:155999253-156010898)x3 http://identifiers.org/clinvar/145685 ^@ GRCh38/hg38 Yq12(chrY:57185773-57197418)x3 http://identifiers.org/clinvar/145686 ^@ GRCh38/hg38 1q31.1(chr1:188767478-188879873)x3 http://identifiers.org/clinvar/145687 ^@ GRCh38/hg38 4q35.2(chr4:189158084-189238295)x3 http://identifiers.org/clinvar/145688 ^@ GRCh38/hg38 14q21.1(chr14:40264666-40421739)x1 http://identifiers.org/clinvar/145689 ^@ GRCh38/hg38 8p12(chr8:29563289-29618756)x3 http://identifiers.org/clinvar/145690 ^@ GRCh38/hg38 2p16.3(chr2:51087233-51240324)x1 http://identifiers.org/clinvar/145691 ^@ GRCh38/hg38 5p14.3(chr5:20474639-20711881)x1 http://identifiers.org/clinvar/145692 ^@ GRCh38/hg38 12q14.2(chr12:63626512-63722729)x3 http://identifiers.org/clinvar/145693 ^@ GRCh38/hg38 4q26(chr4:115992538-116176261)x1 http://identifiers.org/clinvar/145694 ^@ GRCh38/hg38 5p14.3(chr5:21351725-21377167)x3 http://identifiers.org/clinvar/145695 ^@ GRCh38/hg38 3q26.1(chr3:166054631-166895498)x3 http://identifiers.org/clinvar/145696 ^@ GRCh38/hg38 9p21.2(chr9:26274520-26405994)x1 http://identifiers.org/clinvar/145697 ^@ GRCh38/hg38 9q34.3(chr9:138179401-138231605)x3 http://identifiers.org/clinvar/145698 ^@ GRCh38/hg38 6q27(chr6:168218779-168595883)x3 http://identifiers.org/clinvar/145699 ^@ GRCh38/hg38 Xp22.33(chrX:2200415-2371604)x1 http://identifiers.org/clinvar/145700 ^@ GRCh38/hg38 10p14(chr10:6647693-6791248)x3 http://identifiers.org/clinvar/145701 ^@ GRCh38/hg38 1q31.1(chr1:189426955-189543699)x1 http://identifiers.org/clinvar/145702 ^@ GRCh38/hg38 4q28.3(chr4:131834333-132170605)x1 http://identifiers.org/clinvar/145703 ^@ GRCh38/hg38 13q33.1-33.2(chr13:104182206-105209681)x1 http://identifiers.org/clinvar/145704 ^@ GRCh38/hg38 15q24.3(chr15:77430520-77444701)x3 http://identifiers.org/clinvar/145705 ^@ GRCh38/hg38 9p23(chr9:11573531-11713632)x1 http://identifiers.org/clinvar/145706 ^@ GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x3 http://identifiers.org/clinvar/145707 ^@ GRCh38/hg38 10q21.1(chr10:52074749-52222855)x3 http://identifiers.org/clinvar/145708 ^@ GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x2 http://identifiers.org/clinvar/145709 ^@ GRCh38/hg38 Xp22.33(chrX:392358-426983)x1 http://identifiers.org/clinvar/145710 ^@ GRCh38/hg38 8q12.1(chr8:57115220-57920126)x1 http://identifiers.org/clinvar/145711 ^@ GRCh38/hg38 3q29(chr3:198136564-198219662)x3 http://identifiers.org/clinvar/145712 ^@ GRCh38/hg38 19p12(chr19:20274508-20374052)x1 http://identifiers.org/clinvar/145713 ^@ GRCh38/hg38 5q35.3(chr5:181297242-181324872)x3 http://identifiers.org/clinvar/145714 ^@ GRCh38/hg38 9q34.3(chr9:138138686-138248277)x3 http://identifiers.org/clinvar/145715 ^@ GRCh38/hg38 8p22(chr8:15564152-15573816)x1 http://identifiers.org/clinvar/145716 ^@ GRCh38/hg38 1p13.3(chr1:108246465-108425912)x3 http://identifiers.org/clinvar/145717 ^@ GRCh38/hg38 5p15.33(chr5:470447-496067)x3 http://identifiers.org/clinvar/145718 ^@ GRCh38/hg38 15q25.3(chr15:85290841-85544770)x3 http://identifiers.org/clinvar/145719 ^@ GRCh38/hg38 5q21.3(chr5:106443466-106530076)x1 http://identifiers.org/clinvar/145720 ^@ GRCh38/hg38 16p13.3(chr16:22569-32612)x1 http://identifiers.org/clinvar/145721 ^@ GRCh38/hg38 Xp22.33(chrX:2790986-2884477)x2 http://identifiers.org/clinvar/145722 ^@ GRCh38/hg38 5q21.1(chr5:99875465-99988993)x3 http://identifiers.org/clinvar/145723 ^@ GRCh38/hg38 5q35.3(chr5:181425760-181448620)x3 http://identifiers.org/clinvar/145724 ^@ GRCh38/hg38 8p23.3(chr8:90247-106814)x3 http://identifiers.org/clinvar/145725 ^@ GRCh38/hg38 12q24.32(chr12:127211609-127313660)x1 http://identifiers.org/clinvar/145726 ^@ GRCh38/hg38 Xq25(chrX:127018314-127212010)x1 http://identifiers.org/clinvar/145727 ^@ GRCh38/hg38 7q36.2(chr7:154125945-154207385)x3 http://identifiers.org/clinvar/145728 ^@ GRCh38/hg38 2p22.3(chr2:32562132-32896519)x4 http://identifiers.org/clinvar/145729 ^@ GRCh38/hg38 3q29(chr3:197532364-197658495)x3 http://identifiers.org/clinvar/145730 ^@ GRCh38/hg38 5q23.1(chr5:119693226-119799149)x3 http://identifiers.org/clinvar/145731 ^@ GRCh38/hg38 Xq21.33(chrX:96474424-96590435)x1 http://identifiers.org/clinvar/145732 ^@ GRCh38/hg38 3q29(chr3:198094867-198168298)x3 http://identifiers.org/clinvar/145733 ^@ GRCh38/hg38 6p22.1(chr6:27548175-27728804)x3 http://identifiers.org/clinvar/145734 ^@ GRCh38/hg38 6q16.1(chr6:94747115-94844650)x1 http://identifiers.org/clinvar/145735 ^@ GRCh38/hg38 Yq11.222(chrY:18464608-18538217)x3 http://identifiers.org/clinvar/145736 ^@ GRCh38/hg38 Yq11.222(chrY:18782131-18855730)x3 http://identifiers.org/clinvar/145737 ^@ GRCh38/hg38 Yq11.221(chrY:16162825-16443680)x2 http://identifiers.org/clinvar/145738 ^@ GRCh38/hg38 6q16.1(chr6:94680787-94844650)x1 http://identifiers.org/clinvar/145739 ^@ GRCh38/hg38 9p21.1(chr9:28604285-28718397)x1 http://identifiers.org/clinvar/145740 ^@ GRCh38/hg38 14q21.1(chr14:40390332-40490809)x1 http://identifiers.org/clinvar/145741 ^@ GRCh38/hg38 3p26.3(chr3:1755760-1984526)x1 http://identifiers.org/clinvar/145742 ^@ GRCh38/hg38 2p24.3(chr2:12799304-13383787)x3 http://identifiers.org/clinvar/145743 ^@ GRCh38/hg38 8p23.2(chr8:2492760-2641112)x3 http://identifiers.org/clinvar/145744 ^@ GRCh38/hg38 1q44(chr1:248128267-248176638)x3 http://identifiers.org/clinvar/145745 ^@ GRCh38/hg38 11q12.1(chr11:55973062-56053540)x3 http://identifiers.org/clinvar/145746 ^@ GRCh38/hg38 1q44(chr1:248128267-248176638)x1 http://identifiers.org/clinvar/145747 ^@ GRCh38/hg38 11q12.1(chr11:55973062-56053540)x1 http://identifiers.org/clinvar/145748 ^@ GRCh38/hg38 6q22.31(chr6:119390991-119671113)x1 http://identifiers.org/clinvar/145749 ^@ GRCh38/hg38 7p12.1(chr7:52227381-52512934)x3 http://identifiers.org/clinvar/145750 ^@ GRCh38/hg38 Xq25(chrX:127416540-127573485)x0 http://identifiers.org/clinvar/145751 ^@ GRCh38/hg38 12q14.2(chr12:63553952-63684390)x1 http://identifiers.org/clinvar/145752 ^@ GRCh38/hg38 12q14.2(chr12:63553952-63684390)x3 http://identifiers.org/clinvar/145753 ^@ GRCh38/hg38 8p23.2(chr8:4132365-4211848)x1 http://identifiers.org/clinvar/145754 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95674981-96052275)x3 http://identifiers.org/clinvar/145755 ^@ GRCh38/hg38 Xp21.1(chrX:33577064-34060608)x2 http://identifiers.org/clinvar/145756 ^@ GRCh37/hg19 1q21.1(chr1:143428345-143532171)x3 http://identifiers.org/clinvar/145757 ^@ GRCh38/hg38 3p26.3(chr3:684961-758641)x3 http://identifiers.org/clinvar/145758 ^@ GRCh38/hg38 Xq21.1(chrX:84775973-84877015)x1 http://identifiers.org/clinvar/145759 ^@ GRCh38/hg38 2p11.2(chr2:88838079-89030495)x0 http://identifiers.org/clinvar/145760 ^@ GRCh38/hg38 22q11.22(chr22:22374043-22886630)x1 http://identifiers.org/clinvar/145761 ^@ GRCh38/hg38 Xq25(chrX:125673312-125741448)x1 http://identifiers.org/clinvar/145762 ^@ GRCh38/hg38 12q14.1(chr12:59973621-60061113)x1 http://identifiers.org/clinvar/145763 ^@ GRCh38/hg38 19p12(chr19:21591877-22830542)x3 http://identifiers.org/clinvar/145764 ^@ GRCh38/hg38 Xq23(chrX:113585463-113959540)x0 http://identifiers.org/clinvar/145765 ^@ GRCh38/hg38 4q32.3(chr4:167759996-167910776)x1 http://identifiers.org/clinvar/145766 ^@ GRCh38/hg38 6p11.2-q11.1(chr6:57788605-61701905)x3 http://identifiers.org/clinvar/145767 ^@ GRCh38/hg38 3q29(chr3:197304419-197658495)x3 http://identifiers.org/clinvar/145768 ^@ GRCh38/hg38 Xq26.3(chrX:135159111-135196179)x2 http://identifiers.org/clinvar/145769 ^@ GRCh38/hg38 Xq25(chrX:122346487-122392524)x1 http://identifiers.org/clinvar/145770 ^@ GRCh38/hg38 4q26(chr4:115810641-116120049)x1 http://identifiers.org/clinvar/145771 ^@ GRCh38/hg38 13q21.1(chr13:57219220-57298363)x1 http://identifiers.org/clinvar/145772 ^@ GRCh38/hg38 15q13.3(chr15:31823548-31856744)x3 http://identifiers.org/clinvar/145773 ^@ GRCh38/hg38 16p12.2(chr16:21483549-21851072)x3 http://identifiers.org/clinvar/145774 ^@ GRCh38/hg38 Xp22.33(chrX:1674587-1823312)x3 http://identifiers.org/clinvar/145775 ^@ GRCh38/hg38 Yp11.2(chrY:1674587-1823312)x3 http://identifiers.org/clinvar/145776 ^@ GRCh38/hg38 Xp22.33(chrX:610551-629902)x3 http://identifiers.org/clinvar/145777 ^@ GRCh38/hg38 1q32.2(chr1:208613095-208807190)x3 http://identifiers.org/clinvar/145778 ^@ GRCh38/hg38 Xp22.33(chrX:795387-1499689)x3 http://identifiers.org/clinvar/145779 ^@ GRCh38/hg38 2p11.2(chr2:89200535-89228087)x3 http://identifiers.org/clinvar/145780 ^@ GRCh38/hg38 16p13.3(chr16:774069-813010)x3 http://identifiers.org/clinvar/145781 ^@ GRCh38/hg38 2p11.2(chr2:88975768-91627653)x3 http://identifiers.org/clinvar/145782 ^@ GRCh38/hg38 2p25.3(chr2:383231-721431)x3 http://identifiers.org/clinvar/145783 ^@ GRCh38/hg38 9p24.3(chr9:329684-500525)x3 http://identifiers.org/clinvar/145784 ^@ GRCh38/hg38 15q26.3(chr15:98010889-98142484)x1 http://identifiers.org/clinvar/145785 ^@ GRCh38/hg38 2q21.1(chr2:131310498-131508954)x3 http://identifiers.org/clinvar/145786 ^@ GRCh38/hg38 2p24.3(chr2:14007057-14450253)x3 http://identifiers.org/clinvar/145787 ^@ GRCh38/hg38 1q23.1(chr1:157260265-157381725)x3 http://identifiers.org/clinvar/145788 ^@ GRCh38/hg38 9p24.3(chr9:211086-356079)x3 http://identifiers.org/clinvar/145789 ^@ GRCh38/hg38 9q34.3(chr9:138167115-138248277)x3 http://identifiers.org/clinvar/145790 ^@ GRCh38/hg38 16q23.1(chr16:78624328-78711823)x1 http://identifiers.org/clinvar/145791 ^@ GRCh38/hg38 1q41-42.11(chr1:223891383-223992662)x3 http://identifiers.org/clinvar/145792 ^@ GRCh38/hg38 2q37.3(chr2:240976892-240979817)x3 http://identifiers.org/clinvar/145793 ^@ GRCh38/hg38 3q29(chr3:195896948-195937261)x3 http://identifiers.org/clinvar/145794 ^@ GRCh38/hg38 1q44(chr1:247995637-248042653)x1 http://identifiers.org/clinvar/145795 ^@ GRCh38/hg38 Xq21.33(chrX:95499982-95801651)x1 http://identifiers.org/clinvar/145796 ^@ GRCh38/hg38 8q11.23(chr8:52910511-53030364)x3 http://identifiers.org/clinvar/145797 ^@ GRCh38/hg38 6q22.1(chr6:115004512-115286802)x3 http://identifiers.org/clinvar/145798 ^@ GRCh37/hg19 10p12.33(chr10:17809523-18273895)x3 http://identifiers.org/clinvar/145799 ^@ GRCh38/hg38 Yp11.32(chrY:20297-233335)x3 http://identifiers.org/clinvar/145800 ^@ GRCh38/hg38 Yq11.221(chrY:13879546-14054658)x2 http://identifiers.org/clinvar/145801 ^@ GRCh38/hg38 18p11.32(chr18:1664566-1783662)x3 http://identifiers.org/clinvar/145802 ^@ GRCh38/hg38 Xp22.33(chrX:1123219-1202712)x3 http://identifiers.org/clinvar/145803 ^@ GRCh38/hg38 Yp11.2(chrY:1123219-1202712)x3 http://identifiers.org/clinvar/145804 ^@ GRCh38/hg38 6q26(chr6:162233059-162327256)x1 http://identifiers.org/clinvar/145805 ^@ GRCh38/hg38 7q34(chr7:142620494-142732123)x1 http://identifiers.org/clinvar/145806 ^@ GRCh38/hg38 14q11.2(chr14:21919243-22511027)x1 http://identifiers.org/clinvar/145807 ^@ GRCh38/hg38 22q11.21(chr22:21033611-21107463)x3 http://identifiers.org/clinvar/145808 ^@ GRCh38/hg38 Xp22.33(chrX:1947725-2248818)x3 http://identifiers.org/clinvar/145809 ^@ GRCh38/hg38 7q31.1(chr7:112092584-112144255)x1 http://identifiers.org/clinvar/145810 ^@ GRCh38/hg38 20p12.1(chr20:16073090-16628731)x3 http://identifiers.org/clinvar/145811 ^@ GRCh38/hg38 5q23.2(chr5:125607477-126283972)x3 http://identifiers.org/clinvar/145812 ^@ GRCh38/hg38 19p13.3(chr19:3223852-3306533)x3 http://identifiers.org/clinvar/145813 ^@ GRCh38/hg38 2q32.2(chr2:189442378-189689554)x3 http://identifiers.org/clinvar/145814 ^@ GRCh38/hg38 5q11.2(chr5:58871841-58932089)x3 http://identifiers.org/clinvar/145815 ^@ GRCh38/hg38 1p36.11(chr1:23956536-23979263)x3 http://identifiers.org/clinvar/145816 ^@ GRCh38/hg38 4p16.3(chr4:227660-570745)x3 http://identifiers.org/clinvar/145817 ^@ GRCh38/hg38 14q21.1(chr14:41378491-41593828)x1 http://identifiers.org/clinvar/145818 ^@ GRCh38/hg38 10q21.3(chr10:66203935-66312974)x1 http://identifiers.org/clinvar/145819 ^@ GRCh38/hg38 4p16.2(chr4:4533263-4671557)x1 http://identifiers.org/clinvar/145820 ^@ GRCh38/hg38 12q24.33(chr12:133102300-133182263)x3 http://identifiers.org/clinvar/145821 ^@ GRCh38/hg38 1p36.22(chr1:9288962-9329867)x3 http://identifiers.org/clinvar/145822 ^@ GRCh38/hg38 7q36.3(chr7:158082354-158591823)x3 http://identifiers.org/clinvar/145823 ^@ GRCh38/hg38 6p25.2(chr6:3876004-4099191)x3 http://identifiers.org/clinvar/145824 ^@ GRCh38/hg38 Xp22.33(chrX:1055101-1420616)x3 http://identifiers.org/clinvar/145825 ^@ GRCh38/hg38 Yp11.2(chrY:1055101-1420616)x3 http://identifiers.org/clinvar/145826 ^@ GRCh38/hg38 2q37.1(chr2:230320164-230385715)x3 http://identifiers.org/clinvar/145827 ^@ GRCh38/hg38 Xp22.33(chrX:1202712-1228390)x3 http://identifiers.org/clinvar/145828 ^@ GRCh38/hg38 3q25.32(chr3:157470300-157946641)x1 http://identifiers.org/clinvar/145829 ^@ GRCh38/hg38 15q21.3(chr15:53553175-53673345)x1 http://identifiers.org/clinvar/145830 ^@ GRCh38/hg38 4q35.1(chr4:185498280-185579529)x3 http://identifiers.org/clinvar/145831 ^@ GRCh38/hg38 13q34(chr13:113972346-114106448)x3 http://identifiers.org/clinvar/145832 ^@ GRCh38/hg38 15q13.3(chr15:31728422-32150818)x3 http://identifiers.org/clinvar/145833 ^@ GRCh38/hg38 2q32.1(chr2:184499992-185229822)x1 http://identifiers.org/clinvar/145834 ^@ GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x1 http://identifiers.org/clinvar/145835 ^@ GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x0 http://identifiers.org/clinvar/145836 ^@ GRCh38/hg38 10q22.2(chr10:74753051-74825845)x1 http://identifiers.org/clinvar/145837 ^@ GRCh38/hg38 7q33(chr7:135360779-135634426)x3 http://identifiers.org/clinvar/145838 ^@ GRCh38/hg38 8p23.1(chr8:9543912-9567334)x1 http://identifiers.org/clinvar/145839 ^@ GRCh38/hg38 9q34.12(chr9:130600160-130655199)x3 http://identifiers.org/clinvar/145840 ^@ GRCh38/hg38 4q25(chr4:109267901-109469145)x3 http://identifiers.org/clinvar/145841 ^@ GRCh38/hg38 4q22.1(chr4:92535045-92633791)x1 http://identifiers.org/clinvar/145842 ^@ GRCh38/hg38 16q23.1(chr16:76487528-76701427)x3 http://identifiers.org/clinvar/145843 ^@ GRCh38/hg38 17p13.3(chr17:311632-414413)x3 http://identifiers.org/clinvar/145844 ^@ GRCh38/hg38 12q24.33(chr12:132562876-132588256)x3 http://identifiers.org/clinvar/145845 ^@ GRCh38/hg38 8q24.11(chr8:118190541-118231528)x3 http://identifiers.org/clinvar/145846 ^@ GRCh38/hg38 10q11.21(chr10:43545153-43603440)x3 http://identifiers.org/clinvar/145847 ^@ GRCh38/hg38 22q11.23(chr22:23859833-23930947)x3 http://identifiers.org/clinvar/145848 ^@ GRCh38/hg38 13q21.32(chr13:66733239-66832341)x1 http://identifiers.org/clinvar/145849 ^@ GRCh38/hg38 17p13.1(chr17:8898174-9088908)x3 http://identifiers.org/clinvar/145850 ^@ GRCh38/hg38 13q12.3(chr13:31155509-31284676)x3 http://identifiers.org/clinvar/145851 ^@ GRCh38/hg38 20p12.1(chr20:14753765-15060833)x1 http://identifiers.org/clinvar/145852 ^@ GRCh38/hg38 19p13.12(chr19:15631691-15692480)x3 http://identifiers.org/clinvar/145853 ^@ GRCh38/hg38 12q24.31(chr12:121110993-121325874)x3 http://identifiers.org/clinvar/145854 ^@ GRCh38/hg38 7q31.32(chr7:122137588-122158524)x1 http://identifiers.org/clinvar/145855 ^@ GRCh38/hg38 10q23.33(chr10:94647983-94760469)x1 http://identifiers.org/clinvar/145856 ^@ GRCh38/hg38 5q35.3(chr5:181249063-181285203)x1 http://identifiers.org/clinvar/145857 ^@ GRCh38/hg38 2p22.3(chr2:32452646-33069656)x3 http://identifiers.org/clinvar/145858 ^@ GRCh38/hg38 10q21.3(chr10:66523779-66684077)x1 http://identifiers.org/clinvar/145859 ^@ GRCh38/hg38 20p12.1(chr20:15091966-15222628)x1 http://identifiers.org/clinvar/145860 ^@ GRCh38/hg38 13q12.11(chr13:19452025-19555582)x3 http://identifiers.org/clinvar/145861 ^@ GRCh38/hg38 13q12.11(chr13:19452025-19555582)x1 http://identifiers.org/clinvar/145862 ^@ GRCh38/hg38 9p22.3(chr9:15310273-15378137)x1 http://identifiers.org/clinvar/145863 ^@ GRCh38/hg38 2q36.3(chr2:227943840-228950413)x1 http://identifiers.org/clinvar/145864 ^@ GRCh38/hg38 8p23.1(chr8:10407815-10542130)x1 http://identifiers.org/clinvar/145865 ^@ GRCh37/hg19 1q21.1(chr1:143753740-143984287)x3 http://identifiers.org/clinvar/145866 ^@ GRCh38/hg38 12p12.3(chr12:16041251-16120196)x1 http://identifiers.org/clinvar/145867 ^@ GRCh38/hg38 8q21.3(chr8:86187888-86300584)x3 http://identifiers.org/clinvar/145868 ^@ GRCh38/hg38 13q21.32(chr13:66641542-66825751)x1 http://identifiers.org/clinvar/145869 ^@ GRCh38/hg38 5q21.1(chr5:102362102-102458385)x3 http://identifiers.org/clinvar/145870 ^@ GRCh38/hg38 10q21.3(chr10:66562861-66684077)x1 http://identifiers.org/clinvar/145871 ^@ GRCh38/hg38 17p13.3(chr17:377882-446691)x3 http://identifiers.org/clinvar/145872 ^@ GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1 http://identifiers.org/clinvar/145873 ^@ GRCh38/hg38 17q24.2(chr17:68041106-68127623)x3 http://identifiers.org/clinvar/145874 ^@ GRCh38/hg38 20q13.12(chr20:47390946-47514274)x3 http://identifiers.org/clinvar/145875 ^@ GRCh38/hg38 18p11.32(chr18:1081117-1768089)x3 http://identifiers.org/clinvar/145876 ^@ GRCh38/hg38 Xp21.3(chrX:25651617-26381083)x3 http://identifiers.org/clinvar/145877 ^@ GRCh38/hg38 1q22(chr1:155648847-155715659)x3 http://identifiers.org/clinvar/145878 ^@ GRCh38/hg38 15q25.2(chr15:84548927-84626699)x3 http://identifiers.org/clinvar/145879 ^@ GRCh38/hg38 4p16.3(chr4:1330963-1348155)x1 http://identifiers.org/clinvar/145880 ^@ GRCh38/hg38 3p12.3(chr3:75721211-75742414)x3 http://identifiers.org/clinvar/145881 ^@ GRCh38/hg38 12q24.11(chr12:109081325-109154941)x3 http://identifiers.org/clinvar/145882 ^@ GRCh38/hg38 3p12.2(chr3:80214687-83388676)x3 http://identifiers.org/clinvar/145883 ^@ GRCh38/hg38 4q31.1(chr4:139222611-139390389)x3 http://identifiers.org/clinvar/145884 ^@ GRCh38/hg38 7q22.1(chr7:101337416-101483054)x3 http://identifiers.org/clinvar/145885 ^@ GRCh38/hg38 3q28(chr3:190075909-190254725)x1 http://identifiers.org/clinvar/145886 ^@ GRCh38/hg38 Xp22.33(chrX:426983-983159)x3 http://identifiers.org/clinvar/145887 ^@ GRCh38/hg38 22q11.21(chr22:18024195-18069873)x1 http://identifiers.org/clinvar/145888 ^@ GRCh38/hg38 7p21.3(chr7:8636370-8767696)x1 http://identifiers.org/clinvar/145889 ^@ GRCh38/hg38 22q11.21(chr22:18907322-19022936)x3 http://identifiers.org/clinvar/145890 ^@ GRCh38/hg38 7q36.1(chr7:152019833-152239007)x3 http://identifiers.org/clinvar/145891 ^@ GRCh38/hg38 10p12.31(chr10:18683628-19157661)x1 http://identifiers.org/clinvar/145892 ^@ GRCh38/hg38 1p33(chr1:49662713-49727771)x1 http://identifiers.org/clinvar/145893 ^@ GRCh38/hg38 6q25.3(chr6:157523929-157547682)x3 http://identifiers.org/clinvar/145894 ^@ GRCh38/hg38 Xp22.33(chrX:1691430-2443358)x3 http://identifiers.org/clinvar/145895 ^@ GRCh38/hg38 Xq21.31-21.32(chrX:92542606-93474757)x3 http://identifiers.org/clinvar/145896 ^@ GRCh38/hg38 12q21.32(chr12:86813466-87184537)x1 http://identifiers.org/clinvar/145897 ^@ GRCh38/hg38 9p24.1(chr9:6312800-6355675)x1 http://identifiers.org/clinvar/145898 ^@ GRCh38/hg38 15q26.1(chr15:90314432-90458918)x3 http://identifiers.org/clinvar/145899 ^@ GRCh38/hg38 5q23.3(chr5:130147444-130290374)x3 http://identifiers.org/clinvar/145900 ^@ GRCh38/hg38 20p11.21(chr20:23722274-23834208)x1 http://identifiers.org/clinvar/145901 ^@ GRCh38/hg38 1q24.2(chr1:168673294-168952481)x3 http://identifiers.org/clinvar/145902 ^@ GRCh38/hg38 Xq13.3(chrX:75201035-75243922)x3 http://identifiers.org/clinvar/145903 ^@ GRCh38/hg38 Xq13.3(chrX:75201035-75243922)x2 http://identifiers.org/clinvar/145904 ^@ GRCh38/hg38 10q21.1(chr10:58860192-59107129)x3 http://identifiers.org/clinvar/145905 ^@ GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3 http://identifiers.org/clinvar/145906 ^@ GRCh38/hg38 3p26.3(chr3:2475307-2540154)x1 http://identifiers.org/clinvar/145907 ^@ GRCh38/hg38 12q13.11(chr12:47570565-47647966)x4 http://identifiers.org/clinvar/145908 ^@ GRCh38/hg38 9p24.3(chr9:534531-805606)x3 http://identifiers.org/clinvar/145909 ^@ GRCh38/hg38 7p14.3(chr7:32797513-32831789)x3 http://identifiers.org/clinvar/145910 ^@ GRCh38/hg38 Xq13.2(chrX:73008114-73093602)x2 http://identifiers.org/clinvar/145911 ^@ GRCh38/hg38 5q11.1(chr5:50264086-50822361)x3 http://identifiers.org/clinvar/145912 ^@ GRCh38/hg38 6p24.3-24.2(chr6:10564018-10629482)x1 http://identifiers.org/clinvar/145913 ^@ GRCh38/hg38 17p11.2(chr17:18872617-19009860)x3 http://identifiers.org/clinvar/145914 ^@ GRCh38/hg38 7p22.1(chr7:5041361-5126344)x1 http://identifiers.org/clinvar/145915 ^@ GRCh38/hg38 5p15.33(chr5:151622-234045)x3 http://identifiers.org/clinvar/145916 ^@ GRCh38/hg38 Xq22.1(chrX:99463846-99589707)x0 http://identifiers.org/clinvar/145917 ^@ GRCh38/hg38 9p24.3(chr9:185579-288161)x4 http://identifiers.org/clinvar/145918 ^@ GRCh38/hg38 Xp21.1(chrX:37379580-37660460)x2 http://identifiers.org/clinvar/145919 ^@ GRCh38/hg38 10p12.31(chr10:21024667-21102182)x1 http://identifiers.org/clinvar/145920 ^@ GRCh38/hg38 2q32.2(chr2:188607058-188721167)x3 http://identifiers.org/clinvar/145921 ^@ GRCh38/hg38 4q35.1(chr4:182793418-182892852)x3 http://identifiers.org/clinvar/145922 ^@ GRCh38/hg38 9p24.3(chr9:211086-271257)x3 http://identifiers.org/clinvar/145923 ^@ GRCh38/hg38 14q21.1(chr14:42525760-42802470)x1 http://identifiers.org/clinvar/145924 ^@ GRCh38/hg38 2p16.3(chr2:51131684-51155675)x1 http://identifiers.org/clinvar/145925 ^@ GRCh38/hg38 7q36.2(chr7:154659248-154774644)x1 http://identifiers.org/clinvar/145926 ^@ GRCh38/hg38 9p24.1(chr9:5352284-5426040)x1 http://identifiers.org/clinvar/145927 ^@ GRCh38/hg38 10q23.1(chr10:82781346-82801839)x1 http://identifiers.org/clinvar/145928 ^@ GRCh38/hg38 4p16.1(chr4:8222739-8327796)x1 http://identifiers.org/clinvar/145929 ^@ GRCh38/hg38 10p15.3(chr10:73856-182858)x3 http://identifiers.org/clinvar/145930 ^@ GRCh38/hg38 21q21.3(chr21:27839757-27986029)x1 http://identifiers.org/clinvar/145931 ^@ GRCh38/hg38 Xp22.33(chrX:378139-762734)x3 http://identifiers.org/clinvar/145932 ^@ GRCh38/hg38 Yp11.31-11.2(chrY:378139-762734)x3 http://identifiers.org/clinvar/145933 ^@ GRCh38/hg38 15q26.3(chr15:99848343-100058445)x3 http://identifiers.org/clinvar/145934 ^@ GRCh38/hg38 1p32.3(chr1:51814691-51941708)x3 http://identifiers.org/clinvar/145935 ^@ GRCh38/hg38 5q21.1(chr5:103168211-103253336)x3 http://identifiers.org/clinvar/145936 ^@ GRCh38/hg38 20q13.33(chr20:64197187-64317737)x3 http://identifiers.org/clinvar/145937 ^@ GRCh38/hg38 10p15.1(chr10:5161663-5196381)x1 http://identifiers.org/clinvar/145938 ^@ GRCh38/hg38 16p13.3(chr16:551385-722554)x3 http://identifiers.org/clinvar/145939 ^@ GRCh38/hg38 9q31.3(chr9:110020137-110219177)x3 http://identifiers.org/clinvar/145940 ^@ GRCh38/hg38 Xq28(chrX:155348480-156016920)x3 http://identifiers.org/clinvar/145941 ^@ GRCh38/hg38 19q13.32(chr19:45334306-45387389)x3 http://identifiers.org/clinvar/145942 ^@ GRCh38/hg38 17p13.3(chr17:377882-540581)x3 http://identifiers.org/clinvar/145943 ^@ GRCh38/hg38 1q44(chr1:246386899-246415872)x1 http://identifiers.org/clinvar/145944 ^@ GRCh38/hg38 2q36.3(chr2:229854662-230035411)x3 http://identifiers.org/clinvar/145945 ^@ GRCh38/hg38 Xp22.33(chrX:820136-1397810)x3 http://identifiers.org/clinvar/145946 ^@ GRCh38/hg38 5p15.2(chr5:12819940-13227589)x3 http://identifiers.org/clinvar/145947 ^@ GRCh38/hg38 7q11.22(chr7:72219956-72243004)x1 http://identifiers.org/clinvar/145948 ^@ GRCh38/hg38 4q22.1(chr4:89262856-89537501)x3 http://identifiers.org/clinvar/145949 ^@ GRCh38/hg38 Xq13.1(chrX:71348829-71447967)x3 http://identifiers.org/clinvar/145950 ^@ GRCh38/hg38 2p23.3(chr2:25215598-25306343)x3 http://identifiers.org/clinvar/145951 ^@ GRCh38/hg38 5q21.1(chr5:101494971-102223701)x1 http://identifiers.org/clinvar/145952 ^@ GRCh38/hg38 3q28(chr3:188439867-188763043)x1 http://identifiers.org/clinvar/145953 ^@ GRCh38/hg38 3p26.2(chr3:3048683-3077797)x3 http://identifiers.org/clinvar/145954 ^@ GRCh38/hg38 8q11.21(chr8:50082603-50792866)x1 http://identifiers.org/clinvar/145955 ^@ GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3 http://identifiers.org/clinvar/145956 ^@ GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1 http://identifiers.org/clinvar/145957 ^@ GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3 http://identifiers.org/clinvar/145958 ^@ GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3 http://identifiers.org/clinvar/145959 ^@ GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1 http://identifiers.org/clinvar/145960 ^@ GRCh38/hg38 12q24.13(chr12:112416863-112426595)x3 http://identifiers.org/clinvar/145961 ^@ GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1 http://identifiers.org/clinvar/145962 ^@ GRCh38/hg38 Xp22.11(chrX:22774924-23081201)x0 http://identifiers.org/clinvar/145963 ^@ GRCh38/hg38 Xp11.4(chrX:40165688-40662855)x2 http://identifiers.org/clinvar/145964 ^@ GRCh38/hg38 16p13.3(chr16:979282-1005769)x3 http://identifiers.org/clinvar/145965 ^@ GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 http://identifiers.org/clinvar/145966 ^@ GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1 http://identifiers.org/clinvar/145967 ^@ GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 http://identifiers.org/clinvar/145968 ^@ GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 http://identifiers.org/clinvar/145969 ^@ GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 http://identifiers.org/clinvar/145970 ^@ GRCh38/hg38 5q35.3(chr5:177239706-177291908)x1 http://identifiers.org/clinvar/145971 ^@ GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x3 http://identifiers.org/clinvar/145972 ^@ GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x0 http://identifiers.org/clinvar/145973 ^@ GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 http://identifiers.org/clinvar/145974 ^@ GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 http://identifiers.org/clinvar/145975 ^@ GRCh38/hg38 Xp21.1(chrX:32631403-32907656)x1 http://identifiers.org/clinvar/145976 ^@ GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1 http://identifiers.org/clinvar/145977 ^@ GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1 http://identifiers.org/clinvar/145978 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 http://identifiers.org/clinvar/145979 ^@ GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 http://identifiers.org/clinvar/145980 ^@ GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 http://identifiers.org/clinvar/145981 ^@ GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 http://identifiers.org/clinvar/145982 ^@ GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 http://identifiers.org/clinvar/145983 ^@ GRCh38/hg38 1p13.2-11.2(chr1:121086594-144935242)x3 http://identifiers.org/clinvar/145984 ^@ GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 http://identifiers.org/clinvar/145985 ^@ GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1 http://identifiers.org/clinvar/145986 ^@ GRCh38/hg38 17p13.3(chr17:1325785-1445161)x3 http://identifiers.org/clinvar/145987 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 http://identifiers.org/clinvar/145988 ^@ GRCh38/hg38 17p13.3(chr17:2414781-2722552)x3 http://identifiers.org/clinvar/145989 ^@ GRCh38/hg38 Yq11.223(chrY:21927773-22494369)x0 http://identifiers.org/clinvar/145990 ^@ GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1 http://identifiers.org/clinvar/145991 ^@ GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 http://identifiers.org/clinvar/145992 ^@ GRCh38/hg38 2p16.3(chr2:51009862-51155675)x1 http://identifiers.org/clinvar/145993 ^@ GRCh38/hg38 15q11.2(chr15:24096937-24873170)x3 http://identifiers.org/clinvar/145994 ^@ GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 http://identifiers.org/clinvar/145995 ^@ GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 http://identifiers.org/clinvar/145996 ^@ GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1 http://identifiers.org/clinvar/145997 ^@ GRCh38/hg38 8q13.3(chr8:71186873-71428549)x1 http://identifiers.org/clinvar/145998 ^@ GRCh38/hg38 2p21(chr2:44303991-44325759)x1 http://identifiers.org/clinvar/145999 ^@ GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0 http://identifiers.org/clinvar/146000 ^@ GRCh38/hg38 2p16.3(chr2:50944985-51024360)x1 http://identifiers.org/clinvar/146001 ^@ GRCh38/hg38 Xp11.3(chrX:43640608-44123496)x2 http://identifiers.org/clinvar/146002 ^@ GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1 http://identifiers.org/clinvar/146003 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 http://identifiers.org/clinvar/146004 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3 http://identifiers.org/clinvar/146005 ^@ GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1 http://identifiers.org/clinvar/146006 ^@ GRCh38/hg38 17p13.3(chr17:2436267-2685302)x3 http://identifiers.org/clinvar/146007 ^@ GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 http://identifiers.org/clinvar/146008 ^@ GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 http://identifiers.org/clinvar/146009 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 http://identifiers.org/clinvar/146010 ^@ GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 http://identifiers.org/clinvar/146011 ^@ GRCh38/hg38 Xp21.1(chrX:32203741-32353533)x1 http://identifiers.org/clinvar/146012 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22669543-23300977)x3 http://identifiers.org/clinvar/146013 ^@ GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 http://identifiers.org/clinvar/146014 ^@ GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 http://identifiers.org/clinvar/146015 ^@ GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 http://identifiers.org/clinvar/146016 ^@ GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3 http://identifiers.org/clinvar/146017 ^@ GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1 http://identifiers.org/clinvar/146018 ^@ GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 http://identifiers.org/clinvar/146019 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3 http://identifiers.org/clinvar/146020 ^@ GRCh38/hg38 Xp11.22(chrX:53532587-53595587)x3 http://identifiers.org/clinvar/146021 ^@ GRCh38/hg38 Xp21.1(chrX:32452761-32645074)x2 http://identifiers.org/clinvar/146022 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1 http://identifiers.org/clinvar/146023 ^@ GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 http://identifiers.org/clinvar/146024 ^@ GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 http://identifiers.org/clinvar/146025 ^@ GRCh38/hg38 Xp22.31(chrX:6531603-8147053)x0 http://identifiers.org/clinvar/146026 ^@ GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1 http://identifiers.org/clinvar/146027 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 http://identifiers.org/clinvar/146028 ^@ GRCh38/hg38 1q21.1(chr1:145688153-146166380)x3 http://identifiers.org/clinvar/146029 ^@ GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1 http://identifiers.org/clinvar/146030 ^@ GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1 http://identifiers.org/clinvar/146031 ^@ GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1 http://identifiers.org/clinvar/146032 ^@ GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 http://identifiers.org/clinvar/146033 ^@ GRCh38/hg38 13q21.33(chr13:69948741-70206270)x1 http://identifiers.org/clinvar/146034 ^@ GRCh38/hg38 6q21(chr6:107010730-108039165)x3 http://identifiers.org/clinvar/146035 ^@ GRCh38/hg38 4q28.2-28.3(chr4:129082327-130146999)x3 http://identifiers.org/clinvar/146036 ^@ GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1 http://identifiers.org/clinvar/146037 ^@ GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1 http://identifiers.org/clinvar/146038 ^@ GRCh38/hg38 2p11.2(chr2:86078247-86282144)x3 http://identifiers.org/clinvar/146039 ^@ GRCh38/hg38 3q13.12(chr3:107246719-107699807)x3 http://identifiers.org/clinvar/146040 ^@ GRCh38/hg38 21q11.2(chr21:13399449-14335064)x3 http://identifiers.org/clinvar/146041 ^@ GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3 http://identifiers.org/clinvar/146042 ^@ GRCh38/hg38 2q33.3(chr2:207661540-207876453)x3 http://identifiers.org/clinvar/146043 ^@ GRCh38/hg38 8q11.23(chr8:53790469-54207499)x3 http://identifiers.org/clinvar/146044 ^@ GRCh38/hg38 12p13.2(chr12:10273008-10633696)x1 http://identifiers.org/clinvar/146045 ^@ GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3 http://identifiers.org/clinvar/146046 ^@ GRCh38/hg38 5q31.3(chr5:142643032-142900779)x3 http://identifiers.org/clinvar/146047 ^@ GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3 http://identifiers.org/clinvar/146048 ^@ GRCh37/hg19 1p36.32(chr1:3809893-4043740)x3 http://identifiers.org/clinvar/146049 ^@ GRCh38/hg38 4q21.3-22.1(chr4:86948317-87170510)x3 http://identifiers.org/clinvar/146050 ^@ GRCh38/hg38 6q25.3(chr6:156353632-157547682)x1 http://identifiers.org/clinvar/146051 ^@ GRCh38/hg38 8q24.12(chr8:120662277-120917444)x1 http://identifiers.org/clinvar/146052 ^@ GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3 http://identifiers.org/clinvar/146053 ^@ GRCh38/hg38 3p12.3(chr3:74205761-74627022)x3 http://identifiers.org/clinvar/146054 ^@ GRCh38/hg38 Xp11.4(chrX:39842449-40117345)x2 http://identifiers.org/clinvar/146055 ^@ GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3 http://identifiers.org/clinvar/146056 ^@ GRCh38/hg38 4q31.22-31.23(chr4:147396786-147788662)x3 http://identifiers.org/clinvar/146057 ^@ GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3 http://identifiers.org/clinvar/146058 ^@ GRCh38/hg38 5q14.3(chr5:84342580-85547289)x1 http://identifiers.org/clinvar/146059 ^@ GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3 http://identifiers.org/clinvar/146060 ^@ GRCh38/hg38 12p12.1(chr12:24784088-25101275)x3 http://identifiers.org/clinvar/146061 ^@ GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1 http://identifiers.org/clinvar/146062 ^@ GRCh38/hg38 15q26.3(chr15:98236665-98976591)x3 http://identifiers.org/clinvar/146063 ^@ GRCh38/hg38 8q21.13(chr8:76115629-78506009)x1 http://identifiers.org/clinvar/146064 ^@ GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3 http://identifiers.org/clinvar/146065 ^@ GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3 http://identifiers.org/clinvar/146066 ^@ GRCh38/hg38 10p12.31(chr10:21125825-21721227)x3 http://identifiers.org/clinvar/146067 ^@ GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 http://identifiers.org/clinvar/146068 ^@ GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3 http://identifiers.org/clinvar/146069 ^@ GRCh38/hg38 Xq21.31(chrX:88567637-89230989)x2 http://identifiers.org/clinvar/146070 ^@ GRCh38/hg38 Xp22.31(chrX:6710223-8129470)x3 http://identifiers.org/clinvar/146071 ^@ GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 http://identifiers.org/clinvar/146072 ^@ GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 http://identifiers.org/clinvar/146073 ^@ GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1 http://identifiers.org/clinvar/146074 ^@ GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 http://identifiers.org/clinvar/146075 ^@ GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 http://identifiers.org/clinvar/146076 ^@ GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 http://identifiers.org/clinvar/146077 ^@ GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 http://identifiers.org/clinvar/146078 ^@ GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1 http://identifiers.org/clinvar/146079 ^@ GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 http://identifiers.org/clinvar/146080 ^@ GRCh38/hg38 21q21.2(chr21:23931061-24479135)x1 http://identifiers.org/clinvar/146081 ^@ GRCh38/hg38 Xq28(chrX:154022066-154065465)x1 http://identifiers.org/clinvar/146082 ^@ GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1 http://identifiers.org/clinvar/146083 ^@ GRCh38/hg38 17q22(chr17:56683505-58084939)x1 http://identifiers.org/clinvar/146084 ^@ GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 http://identifiers.org/clinvar/146085 ^@ GRCh38/hg38 20p13(chr20:89939-364235)x1 http://identifiers.org/clinvar/146086 ^@ GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 http://identifiers.org/clinvar/146087 ^@ GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 http://identifiers.org/clinvar/146088 ^@ GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3 http://identifiers.org/clinvar/146089 ^@ GRCh38/hg38 6q27(chr6:164790270-170612001)x1 http://identifiers.org/clinvar/146090 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22358401)x1 http://identifiers.org/clinvar/146091 ^@ GRCh38/hg38 10q25.1-25.2(chr10:109544286-110311875)x3 http://identifiers.org/clinvar/146092 ^@ GRCh38/hg38 2p24.3(chr2:15003826-15582823)x1 http://identifiers.org/clinvar/146093 ^@ GRCh38/hg38 Xp11.4(chrX:40883294-41689223)x2 http://identifiers.org/clinvar/146096 ^@ GRCh38/hg38 6q14.1(chr6:78164249-78335742)x3 http://identifiers.org/clinvar/146097 ^@ GRCh38/hg38 Xq27.2(chrX:141258760-141469764)x2 http://identifiers.org/clinvar/146098 ^@ GRCh38/hg38 2q13(chr2:110025459-110207301)x3 http://identifiers.org/clinvar/146099 ^@ GRCh38/hg38 9p24.3(chr9:203993-381630)x3 http://identifiers.org/clinvar/146100 ^@ GRCh38/hg38 1q21.2(chr1:147756534-147776607)x3 http://identifiers.org/clinvar/146101 ^@ GRCh38/hg38 15q13.3(chr15:31738609-32217866)x3 http://identifiers.org/clinvar/146102 ^@ GRCh38/hg38 9p23(chr9:11659096-11904449)x1 http://identifiers.org/clinvar/146103 ^@ GRCh38/hg38 6q26(chr6:162708432-163095419)x1 http://identifiers.org/clinvar/146104 ^@ GRCh38/hg38 14q32.33(chr14:106614348-106714251)x3 http://identifiers.org/clinvar/146105 ^@ GRCh38/hg38 13q31.3(chr13:91413206-91615256)x1 http://identifiers.org/clinvar/146106 ^@ GRCh38/hg38 4q28.3(chr4:134021881-134259155)x1 http://identifiers.org/clinvar/146107 ^@ GRCh38/hg38 15q13.3(chr15:31738609-32146883)x3 http://identifiers.org/clinvar/146109 ^@ GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1 http://identifiers.org/clinvar/146110 ^@ GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 http://identifiers.org/clinvar/146111 ^@ GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 http://identifiers.org/clinvar/146112 ^@ GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1 http://identifiers.org/clinvar/146113 ^@ GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 http://identifiers.org/clinvar/146114 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3 http://identifiers.org/clinvar/146115 ^@ GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 http://identifiers.org/clinvar/146116 ^@ GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1 http://identifiers.org/clinvar/146117 ^@ GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 http://identifiers.org/clinvar/146118 ^@ GRCh38/hg38 4q21.23-21.3(chr4:84577519-86077547)x3 http://identifiers.org/clinvar/146119 ^@ GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1 http://identifiers.org/clinvar/146120 ^@ GRCh38/hg38 18q21.33-22.1(chr18:63846473-66558774)x1 http://identifiers.org/clinvar/146121 ^@ GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 http://identifiers.org/clinvar/146122 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3 http://identifiers.org/clinvar/146123 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1 http://identifiers.org/clinvar/146124 ^@ GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1 http://identifiers.org/clinvar/146125 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 http://identifiers.org/clinvar/146126 ^@ GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1 http://identifiers.org/clinvar/146127 ^@ GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1 http://identifiers.org/clinvar/146128 ^@ GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 http://identifiers.org/clinvar/146129 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3 http://identifiers.org/clinvar/146130 ^@ GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 http://identifiers.org/clinvar/146131 ^@ GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 http://identifiers.org/clinvar/146132 ^@ GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 http://identifiers.org/clinvar/146133 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 http://identifiers.org/clinvar/146134 ^@ GRCh38/hg38 2p12(chr2:79680727-80974466)x3 http://identifiers.org/clinvar/146135 ^@ GRCh38/hg38 17q22(chr17:53575839-54652494)x3 http://identifiers.org/clinvar/146136 ^@ GRCh38/hg38 1p35.3-35.2(chr1:29860227-30448676)x3 http://identifiers.org/clinvar/146137 ^@ GRCh38/hg38 2q13(chr2:110104900-110201550)x1 http://identifiers.org/clinvar/146138 ^@ GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3 http://identifiers.org/clinvar/146139 ^@ GRCh38/hg38 7q31.33(chr7:125538149-125931395)x1 http://identifiers.org/clinvar/146140 ^@ GRCh38/hg38 16q21(chr16:59657922-60704019)x1 http://identifiers.org/clinvar/146141 ^@ GRCh38/hg38 13q12.11(chr13:19844993-19871321)x3 http://identifiers.org/clinvar/146142 ^@ GRCh38/hg38 8p23.1(chr8:7411097-7895205)x1 http://identifiers.org/clinvar/146143 ^@ GRCh38/hg38 1p36.22-36.21(chr1:12293275-13111197)x3 http://identifiers.org/clinvar/146144 ^@ GRCh38/hg38 22q11.22(chr22:21981871-22202339)x1 http://identifiers.org/clinvar/146145 ^@ GRCh38/hg38 9p23(chr9:11172890-12196342)x3 http://identifiers.org/clinvar/146146 ^@ GRCh38/hg38 11q11(chr11:55600678-55792684)x1 http://identifiers.org/clinvar/146147 ^@ GRCh38/hg38 6p25.3(chr6:163083-293493)x3 http://identifiers.org/clinvar/146148 ^@ GRCh38/hg38 14q11.2(chr14:21973760-22442515)x1 http://identifiers.org/clinvar/146149 ^@ GRCh38/hg38 7q11.21(chr7:65149451-65430660)x1 http://identifiers.org/clinvar/146150 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738443-43025849)x3 http://identifiers.org/clinvar/146151 ^@ GRCh38/hg38 5p14.3(chr5:21872032-22156537)x1 http://identifiers.org/clinvar/146152 ^@ GRCh38/hg38 2q12.1-12.2(chr2:105239034-106152100)x3 http://identifiers.org/clinvar/146153 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247471-35493121)x3 http://identifiers.org/clinvar/146154 ^@ GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3 http://identifiers.org/clinvar/146155 ^@ GRCh38/hg38 7q35(chr7:143735739-144155939)x3 http://identifiers.org/clinvar/146156 ^@ GRCh38/hg38 Yq11.223(chrY:22225331-22358529)x2 http://identifiers.org/clinvar/146157 ^@ GRCh38/hg38 6p12.1(chr6:53931543-54584920)x3 http://identifiers.org/clinvar/146158 ^@ GRCh38/hg38 9p23(chr9:11780402-12074235)x3 http://identifiers.org/clinvar/146159 ^@ GRCh38/hg38 Yq11.223(chrY:22225131-22358670)x0 http://identifiers.org/clinvar/146160 ^@ GRCh38/hg38 10p13(chr10:15569469-16776796)x3 http://identifiers.org/clinvar/146162 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/146163 ^@ GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3 http://identifiers.org/clinvar/146164 ^@ GRCh38/hg38 16q12.1(chr16:51275229-52592217)x1 http://identifiers.org/clinvar/146165 ^@ GRCh38/hg38 4p16.3(chr4:12440-117990)x3 http://identifiers.org/clinvar/146166 ^@ GRCh38/hg38 9p13.3(chr9:33853652-34183186)x3 http://identifiers.org/clinvar/146167 ^@ GRCh38/hg38 15q13.1(chr15:27886398-27950413)x1 http://identifiers.org/clinvar/146168 ^@ GRCh38/hg38 6p21.1(chr6:43779427-43782839)x3 http://identifiers.org/clinvar/146169 ^@ GRCh38/hg38 6q24.2(chr6:144418941-144464407)x3 http://identifiers.org/clinvar/146170 ^@ GRCh38/hg38 3p26.3(chr3:529584-1305609)x3 http://identifiers.org/clinvar/146171 ^@ GRCh38/hg38 4q22.1(chr4:89537501-90291933)x1 http://identifiers.org/clinvar/146172 ^@ GRCh38/hg38 3p26.3(chr3:815458-1385776)x3 http://identifiers.org/clinvar/146173 ^@ GRCh38/hg38 4p16.3(chr4:51519-201579)x3 http://identifiers.org/clinvar/146174 ^@ GRCh38/hg38 3p26.3(chr3:1561938-1664546)x3 http://identifiers.org/clinvar/146175 ^@ GRCh38/hg38 9p24.1(chr9:6558442-6838207)x3 http://identifiers.org/clinvar/146176 ^@ GRCh38/hg38 2p25.3(chr2:622175-1110952)x3 http://identifiers.org/clinvar/146177 ^@ GRCh38/hg38 4q12(chr4:55831692-56248102)x3 http://identifiers.org/clinvar/146178 ^@ GRCh38/hg38 2q13(chr2:110104900-110611314)x1 http://identifiers.org/clinvar/146179 ^@ GRCh38/hg38 16p12.2(chr16:21463739-21826230)x3 http://identifiers.org/clinvar/146180 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1 http://identifiers.org/clinvar/146181 ^@ GRCh38/hg38 15q13.3(chr15:31738809-32217725)x2 http://identifiers.org/clinvar/146182 ^@ GRCh38/hg38 2p11.2(chr2:87148954-87705899)x3 http://identifiers.org/clinvar/146184 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 http://identifiers.org/clinvar/146185 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 http://identifiers.org/clinvar/146186 ^@ GRCh38/hg38 15q11.2(chr15:22726969-23066575)x1 http://identifiers.org/clinvar/146190 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25299502-25507576)x3 http://identifiers.org/clinvar/146191 ^@ GRCh38/hg38 2q13(chr2:110104900-110207160)x3 http://identifiers.org/clinvar/146193 ^@ GRCh38/hg38 22q13.33(chr22:50658268-50739836)x3 http://identifiers.org/clinvar/146194 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2220949-2920945)x1 http://identifiers.org/clinvar/146195 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 http://identifiers.org/clinvar/146196 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4 http://identifiers.org/clinvar/146197 ^@ GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1 http://identifiers.org/clinvar/146198 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 http://identifiers.org/clinvar/146201 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x3 http://identifiers.org/clinvar/146202 ^@ GRCh38/hg38 4q35.2(chr4:189047095-189975519)x3 http://identifiers.org/clinvar/146203 ^@ GRCh38/hg38 21q21.1(chr21:20582409-20945246)x1 http://identifiers.org/clinvar/146204 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 http://identifiers.org/clinvar/146205 ^@ GRCh38/hg38 7q11.23(chr7:75432651-76418304)x1 http://identifiers.org/clinvar/146207 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:141160282-141469623)x1 http://identifiers.org/clinvar/146208 ^@ GRCh38/hg38 15q11.2(chr15:22787972-23107440)x1 http://identifiers.org/clinvar/146209 ^@ GRCh38/hg38 7p21.1(chr7:16838053-17663993)x3 http://identifiers.org/clinvar/146211 ^@ GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x1 http://identifiers.org/clinvar/146212 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 http://identifiers.org/clinvar/146214 ^@ GRCh38/hg38 1q31.1(chr1:186792934-187904115)x3 http://identifiers.org/clinvar/146215 ^@ GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 http://identifiers.org/clinvar/146216 ^@ GRCh38/hg38 Yq11.221-12(chrY:13948013-57208726)x0 http://identifiers.org/clinvar/146217 ^@ GRCh38/hg38 21q22.3(chr21:46567187-46603068)x3 http://identifiers.org/clinvar/146218 ^@ GRCh38/hg38 21q22.3(chr21:46567187-46603068)x1 http://identifiers.org/clinvar/146219 ^@ GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 http://identifiers.org/clinvar/146221 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 http://identifiers.org/clinvar/146222 ^@ GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 http://identifiers.org/clinvar/146223 ^@ GRCh38/hg38 2p25.3(chr2:30341-3449132)x1 http://identifiers.org/clinvar/146224 ^@ GRCh38/hg38 Xp22.31(chrX:6787227-7917114)x1 http://identifiers.org/clinvar/146225 ^@ GRCh38/hg38 18p11.32(chr18:148963-2221286)x3 http://identifiers.org/clinvar/146226 ^@ GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1 http://identifiers.org/clinvar/146227 ^@ GRCh38/hg38 Xp22.31(chrX:7021831-8129470)x0 http://identifiers.org/clinvar/146228 ^@ GRCh38/hg38 18p11.32(chr18:148963-533693)x1 http://identifiers.org/clinvar/146229 ^@ GRCh38/hg38 18p11.32(chr18:605210-2425566)x3 http://identifiers.org/clinvar/146230 ^@ GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 http://identifiers.org/clinvar/146231 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 http://identifiers.org/clinvar/146232 ^@ GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 http://identifiers.org/clinvar/146233 ^@ GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 http://identifiers.org/clinvar/146235 ^@ GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 http://identifiers.org/clinvar/146237 ^@ GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 http://identifiers.org/clinvar/146239 ^@ GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 http://identifiers.org/clinvar/146240 ^@ GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 http://identifiers.org/clinvar/146242 ^@ GRCh38/hg38 4q22.3-23(chr4:97836601-98001097)x1 http://identifiers.org/clinvar/146243 ^@ GRCh38/hg38 9q31.1(chr9:103006145-105161449)x1 http://identifiers.org/clinvar/146244 ^@ GRCh38/hg38 2p16.3(chr2:50809966-51219735)x1 http://identifiers.org/clinvar/146247 ^@ GRCh38/hg38 2q14.3(chr2:127961465-128631641)x3 http://identifiers.org/clinvar/146248 ^@ GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3 http://identifiers.org/clinvar/146250 ^@ GRCh38/hg38 19p12(chr19:23441926-23950272)x3 http://identifiers.org/clinvar/146251 ^@ GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3 http://identifiers.org/clinvar/146252 ^@ GRCh38/hg38 3q29(chr3:195838288-196013545)x1 http://identifiers.org/clinvar/146254 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 http://identifiers.org/clinvar/146255 ^@ GRCh38/hg38 7q11.22(chr7:72338586-72694928)x1 http://identifiers.org/clinvar/146257 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 http://identifiers.org/clinvar/146259 ^@ GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 http://identifiers.org/clinvar/146260 ^@ GRCh38/hg38 2p25.3(chr2:30341-1969402)x1 http://identifiers.org/clinvar/146261 ^@ GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 http://identifiers.org/clinvar/146263 ^@ GRCh38/hg38 8p23.2(chr8:2605460-3988766)x3 http://identifiers.org/clinvar/146264 ^@ GRCh38/hg38 Xq21.33-22.1(chrX:99011557-100309964)x1 http://identifiers.org/clinvar/146265 ^@ GRCh38/hg38 17p13.3(chr17:847955-1641601)x3 http://identifiers.org/clinvar/146267 ^@ GRCh38/hg38 2p16.3(chr2:50754975-50999091)x1 http://identifiers.org/clinvar/146271 ^@ GRCh38/hg38 13q21.32(chr13:65624103-66552063)x3 http://identifiers.org/clinvar/146272 ^@ GRCh38/hg38 10q23.1-23.2(chr10:85937958-86195924)x3 http://identifiers.org/clinvar/146273 ^@ GRCh38/hg38 6q13(chr6:70809191-71941709)x3 http://identifiers.org/clinvar/146275 ^@ GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3 http://identifiers.org/clinvar/146276 ^@ GRCh38/hg38 12p11.21-11.1(chr12:32672401-33313056)x3 http://identifiers.org/clinvar/146277 ^@ GRCh38/hg38 2q33.1(chr2:199316281-199585721)x3 http://identifiers.org/clinvar/146279 ^@ GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 http://identifiers.org/clinvar/146280 ^@ GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1 http://identifiers.org/clinvar/146281 ^@ GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1 http://identifiers.org/clinvar/146283 ^@ GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 http://identifiers.org/clinvar/146284 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 http://identifiers.org/clinvar/146285 ^@ GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 http://identifiers.org/clinvar/146286 ^@ GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4 http://identifiers.org/clinvar/146287 ^@ GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1 http://identifiers.org/clinvar/146288 ^@ GRCh38/hg38 4q31.23(chr4:148356485-148748029)x1 http://identifiers.org/clinvar/146289 ^@ GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 http://identifiers.org/clinvar/146290 ^@ GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1 http://identifiers.org/clinvar/146291 ^@ GRCh38/hg38 5q14.3(chr5:87191898-89957449)x1 http://identifiers.org/clinvar/146293 ^@ GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3 http://identifiers.org/clinvar/146294 ^@ GRCh38/hg38 3p26.3(chr3:868334-2301227)x3 http://identifiers.org/clinvar/146296 ^@ GRCh38/hg38 7q11.23(chr7:74031409-74104712)x3 http://identifiers.org/clinvar/146297 ^@ GRCh38/hg38 17q21.31(chr17:45674308-45898400)x3 http://identifiers.org/clinvar/146298 ^@ GRCh38/hg38 6q25.1(chr6:149333404-149527861)x3 http://identifiers.org/clinvar/146299 ^@ GRCh38/hg38 Xp22.2(chrX:10181602-10812117)x2 http://identifiers.org/clinvar/146300 ^@ GRCh38/hg38 Xp22.2(chrX:11111956-11413717)x2 http://identifiers.org/clinvar/146301 ^@ GRCh38/hg38 20p13(chr20:3510905-3891967)x3 http://identifiers.org/clinvar/146302 ^@ GRCh38/hg38 20p13(chr20:4594991-5050271)x3 http://identifiers.org/clinvar/146303 ^@ GRCh38/hg38 Xp21.2(chrX:30944809-31357098)x3 http://identifiers.org/clinvar/146304 ^@ GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 http://identifiers.org/clinvar/146305 ^@ GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 http://identifiers.org/clinvar/146306 ^@ GRCh38/hg38 1q44(chr1:244582123-248918469)x1 http://identifiers.org/clinvar/146307 ^@ GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3 http://identifiers.org/clinvar/146308 ^@ GRCh38/hg38 18q21.2(chr18:51239342-51809218)x3 http://identifiers.org/clinvar/146309 ^@ GRCh38/hg38 22q11.21(chr22:20671366-21151128)x4 http://identifiers.org/clinvar/146310 ^@ GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 http://identifiers.org/clinvar/146311 ^@ GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 http://identifiers.org/clinvar/146313 ^@ GRCh38/hg38 11p13(chr11:31299323-31790071)x1 http://identifiers.org/clinvar/146314 ^@ GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 http://identifiers.org/clinvar/146315 ^@ GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 http://identifiers.org/clinvar/146317 ^@ GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 http://identifiers.org/clinvar/146318 ^@ GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 http://identifiers.org/clinvar/146319 ^@ GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1 http://identifiers.org/clinvar/146321 ^@ GRCh38/hg38 7p22.1(chr7:5578185-5775451)x1 http://identifiers.org/clinvar/146323 ^@ GRCh38/hg38 9q22.1(chr9:88603869-89094516)x1 http://identifiers.org/clinvar/146325 ^@ GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3 http://identifiers.org/clinvar/146327 ^@ GRCh38/hg38 18q21.2(chr18:54747628-55294739)x3 http://identifiers.org/clinvar/146328 ^@ GRCh38/hg38 19q11-12(chr19:27362299-28249987)x4 http://identifiers.org/clinvar/146330 ^@ GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0 http://identifiers.org/clinvar/146331 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 http://identifiers.org/clinvar/146332 ^@ GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0 http://identifiers.org/clinvar/146333 ^@ GRCh38/hg38 5q35.2(chr5:173949773-174900395)x1 http://identifiers.org/clinvar/146334 ^@ GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 http://identifiers.org/clinvar/146335 ^@ GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3 http://identifiers.org/clinvar/146336 ^@ GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 http://identifiers.org/clinvar/146337 ^@ GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1 http://identifiers.org/clinvar/146338 ^@ GRCh38/hg38 Xq21.1(chrX:77902592-78039013)x1 http://identifiers.org/clinvar/146339 ^@ GRCh38/hg38 3p14.1(chr3:67594927-68911377)x1 http://identifiers.org/clinvar/146340 ^@ GRCh38/hg38 1q31.1(chr1:189593085-190776678)x1 http://identifiers.org/clinvar/146341 ^@ GRCh38/hg38 2q24.2(chr2:159419675-159671190)x1 http://identifiers.org/clinvar/146343 ^@ GRCh38/hg38 15q26.3(chr15:98764412-99075036)x3 http://identifiers.org/clinvar/146344 ^@ GRCh38/hg38 4p16.3(chr4:620566-1405362)x3 http://identifiers.org/clinvar/146345 ^@ GRCh38/hg38 3p26.3(chr3:190813-2045586)x3 http://identifiers.org/clinvar/146346 ^@ GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3 http://identifiers.org/clinvar/146347 ^@ GRCh38/hg38 12q12(chr12:43514638-44793576)x3 http://identifiers.org/clinvar/146349 ^@ GRCh38/hg38 21q21.1-21.2(chr21:16872635-24024990)x3 http://identifiers.org/clinvar/146350 ^@ GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 http://identifiers.org/clinvar/146351 ^@ GRCh38/hg38 11p15.2(chr11:14619894-15179026)x3 http://identifiers.org/clinvar/146352 ^@ GRCh38/hg38 5q15(chr5:94169644-95221372)x3 http://identifiers.org/clinvar/146353 ^@ GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 http://identifiers.org/clinvar/146354 ^@ GRCh38/hg38 2p16.3(chr2:50999032-51155734)x1 http://identifiers.org/clinvar/146355 ^@ GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 http://identifiers.org/clinvar/146356 ^@ GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 http://identifiers.org/clinvar/146357 ^@ GRCh38/hg38 10p15.3(chr10:90421-306173)x3 http://identifiers.org/clinvar/146358 ^@ GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1 http://identifiers.org/clinvar/146360 ^@ GRCh38/hg38 3p26.3(chr3:2267324-2368860)x1 http://identifiers.org/clinvar/146362 ^@ GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 http://identifiers.org/clinvar/146363 ^@ GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3 http://identifiers.org/clinvar/146364 ^@ GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 http://identifiers.org/clinvar/146365 ^@ GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 http://identifiers.org/clinvar/146366 ^@ GRCh38/hg38 6p25.3(chr6:163083-1365190)x1 http://identifiers.org/clinvar/146367 ^@ GRCh38/hg38 15q26.2(chr15:94324551-94470012)x1 http://identifiers.org/clinvar/146368 ^@ GRCh38/hg38 4p16.2-16.1(chr4:5875413-6557271)x1 http://identifiers.org/clinvar/146369 ^@ GRCh38/hg38 2q24.1(chr2:154541586-155367858)x1 http://identifiers.org/clinvar/146370 ^@ GRCh38/hg38 20q13.2(chr20:54402662-55795897)x1 http://identifiers.org/clinvar/146371 ^@ GRCh38/hg38 18q11.2(chr18:27124495-27303933)x1 http://identifiers.org/clinvar/146372 ^@ GRCh38/hg38 2p16.1(chr2:56220787-56406370)x1 http://identifiers.org/clinvar/146373 ^@ GRCh38/hg38 4p16.2(chr4:5034932-5344810)x1 http://identifiers.org/clinvar/146375 ^@ GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3 http://identifiers.org/clinvar/146376 ^@ GRCh38/hg38 12p13.32(chr12:3617675-4492591)x3 http://identifiers.org/clinvar/146377 ^@ GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3 http://identifiers.org/clinvar/146378 ^@ GRCh38/hg38 11q14.3(chr11:90123486-91218361)x3 http://identifiers.org/clinvar/146379 ^@ GRCh38/hg38 6q22.1-22.31(chr6:117706176-118397313)x3 http://identifiers.org/clinvar/146380 ^@ GRCh38/hg38 6q22.31(chr6:120977382-121468709)x3 http://identifiers.org/clinvar/146381 ^@ GRCh38/hg38 Xq24(chrX:120274633-121397280)x2 http://identifiers.org/clinvar/146383 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x3 http://identifiers.org/clinvar/146385 ^@ GRCh38/hg38 10q21.3(chr10:63264665-63380483)x1 http://identifiers.org/clinvar/146386 ^@ GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3 http://identifiers.org/clinvar/146387 ^@ GRCh38/hg38 8q11.23(chr8:52875424-53454793)x3 http://identifiers.org/clinvar/146388 ^@ GRCh38/hg38 2p22.3(chr2:32438092-33069715)x3 http://identifiers.org/clinvar/146389 ^@ GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) http://identifiers.org/clinvar/146390 ^@ GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 http://identifiers.org/clinvar/146391 ^@ GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 http://identifiers.org/clinvar/146392 ^@ GRCh38/hg38 7p22.3(chr7:45130-94155)x3 http://identifiers.org/clinvar/146393 ^@ GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 http://identifiers.org/clinvar/146394 ^@ GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 http://identifiers.org/clinvar/146395 ^@ GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3 http://identifiers.org/clinvar/146396 ^@ GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 http://identifiers.org/clinvar/146397 ^@ GRCh38/hg38 17p13.3(chr17:2581219-2767565)x1 http://identifiers.org/clinvar/146398 ^@ GRCh38/hg38 10q26.11(chr10:117544790-117546838)x1 http://identifiers.org/clinvar/146399 ^@ GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1 http://identifiers.org/clinvar/146400 ^@ GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1 http://identifiers.org/clinvar/146401 ^@ GRCh38/hg38 6p25.3-25.2(chr6:1441186-2351374)x1 http://identifiers.org/clinvar/146402 ^@ GRCh38/hg38 Xp22.33(chrX:585218-884538)x1 http://identifiers.org/clinvar/146403 ^@ GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1 http://identifiers.org/clinvar/146405 ^@ GRCh38/hg38 5q15(chr5:94080406-94252804)x1 http://identifiers.org/clinvar/146407 ^@ GRCh38/hg38 4q13.3(chr4:70297081-70405653)x1 http://identifiers.org/clinvar/146408 ^@ GRCh38/hg38 3p14.1(chr3:67566837-68960045)x1 http://identifiers.org/clinvar/146409 ^@ GRCh38/hg38 11p15.1(chr11:21353203-21473909)x1 http://identifiers.org/clinvar/146410 ^@ GRCh38/hg38 13q21.1(chr13:55241062-55781320)x1 http://identifiers.org/clinvar/146412 ^@ GRCh38/hg38 2p25.3(chr2:1784717-2305267)x3 http://identifiers.org/clinvar/146413 ^@ GRCh38/hg38 15q23(chr15:71216221-71387268)x1 http://identifiers.org/clinvar/146414 ^@ GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 http://identifiers.org/clinvar/146415 ^@ GRCh38/hg38 17p13.3(chr17:1368601-1379031)x1 http://identifiers.org/clinvar/146416 ^@ GRCh38/hg38 16p13.3(chr16:6735606-7051313)x3 http://identifiers.org/clinvar/146417 ^@ GRCh38/hg38 8q11.1-11.21(chr8:46709224-47276395)x3 http://identifiers.org/clinvar/146418 ^@ GRCh38/hg38 9p24.3(chr9:204193-280314)x1 http://identifiers.org/clinvar/146419 ^@ GRCh38/hg38 9p24.3(chr9:381430-839211)x3 http://identifiers.org/clinvar/146420 ^@ GRCh38/hg38 6q26(chr6:162512065-163628500)x1 http://identifiers.org/clinvar/146421 ^@ GRCh38/hg38 9q32(chr9:113058848-113725516)x3 http://identifiers.org/clinvar/146422 ^@ GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3 http://identifiers.org/clinvar/146424 ^@ GRCh38/hg38 Xp22.31(chrX:7860124-8423970)x2 http://identifiers.org/clinvar/146425 ^@ GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x2 http://identifiers.org/clinvar/146426 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28961114-30073921)x1 http://identifiers.org/clinvar/146427 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3 http://identifiers.org/clinvar/146428 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/146430 ^@ GRCh38/hg38 4q35.2(chr4:188993014-189975519)x1 http://identifiers.org/clinvar/146431 ^@ GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1 http://identifiers.org/clinvar/146432 ^@ GRCh38/hg38 3p26.3(chr3:1497564-2221008)x3 http://identifiers.org/clinvar/146433 ^@ GRCh38/hg38 2q22.3-23.1(chr2:147783116-148948475)x1 http://identifiers.org/clinvar/146434 ^@ GRCh38/hg38 7q21.3(chr7:93410151-93604672)x1 http://identifiers.org/clinvar/146435 ^@ GRCh38/hg38 7q32.2(chr7:130282044-130490317)x1 http://identifiers.org/clinvar/146436 ^@ GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3 http://identifiers.org/clinvar/146437 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x3 http://identifiers.org/clinvar/146438 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x2 http://identifiers.org/clinvar/146440 ^@ GRCh38/hg38 Xp22.31(chrX:8480218-8706315)x2 http://identifiers.org/clinvar/146441 ^@ GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 http://identifiers.org/clinvar/146442 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 http://identifiers.org/clinvar/146443 ^@ GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 http://identifiers.org/clinvar/146444 ^@ GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 http://identifiers.org/clinvar/146445 ^@ GRCh38/hg38 2p16.3(chr2:50856272-50999091)x1 http://identifiers.org/clinvar/146447 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4 http://identifiers.org/clinvar/146448 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/146449 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 http://identifiers.org/clinvar/146452 ^@ GRCh38/hg38 5q12.3(chr5:65211728-66746761)x3 http://identifiers.org/clinvar/146453 ^@ GRCh38/hg38 17p13.3(chr17:1984085-2193615)x1 http://identifiers.org/clinvar/146454 ^@ GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 http://identifiers.org/clinvar/146455 ^@ GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1 http://identifiers.org/clinvar/146456 ^@ GRCh38/hg38 7q36.2(chr7:153540271-154126004)x3 http://identifiers.org/clinvar/146457 ^@ GRCh38/hg38 11q22.1(chr11:97849768-98439058)x1 http://identifiers.org/clinvar/146458 ^@ GRCh38/hg38 7q31.1(chr7:111771934-112414850)x3 http://identifiers.org/clinvar/146459 ^@ GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2 http://identifiers.org/clinvar/146461 ^@ GRCh38/hg38 20q13.13(chr20:47858604-48480223)x3 http://identifiers.org/clinvar/146463 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28492482-29320029)x3 http://identifiers.org/clinvar/146466 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 http://identifiers.org/clinvar/146469 ^@ GRCh38/hg38 16p12.2(chr16:22055774-22634444)x3 http://identifiers.org/clinvar/146471 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x1 http://identifiers.org/clinvar/146472 ^@ GRCh38/hg38 2p16.3(chr2:50710306-50999091)x1 http://identifiers.org/clinvar/146474 ^@ GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x2 http://identifiers.org/clinvar/146476 ^@ GRCh38/hg38 Xp11.3(chrX:43573663-44655459)x3 http://identifiers.org/clinvar/146478 ^@ GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1 http://identifiers.org/clinvar/146480 ^@ GRCh37/hg19 Yq11.221-12(chrY:16183453-59011762)x2 http://identifiers.org/clinvar/146481 ^@ GRCh38/hg38 Yq11.222-12(chrY:18664321-26637948)x2 http://identifiers.org/clinvar/146482 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1 http://identifiers.org/clinvar/146483 ^@ GRCh38/hg38 4p16.3(chr4:45893-64740)x1 http://identifiers.org/clinvar/146484 ^@ GRCh38/hg38 10q25.3(chr10:114584882-115096595)x3 http://identifiers.org/clinvar/146485 ^@ GRCh38/hg38 15q26.1-26.2(chr15:93425301-94423186)x3 http://identifiers.org/clinvar/146486 ^@ GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1 http://identifiers.org/clinvar/146487 ^@ GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 http://identifiers.org/clinvar/146492 ^@ GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 http://identifiers.org/clinvar/146493 ^@ GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1 http://identifiers.org/clinvar/146497 ^@ GRCh38/hg38 4q35.2(chr4:188115081-188782098)x3 http://identifiers.org/clinvar/146498 ^@ GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1 http://identifiers.org/clinvar/146499 ^@ GRCh38/hg38 Xp11.4-11.3(chrX:42217978-43846754)x0 http://identifiers.org/clinvar/146500 ^@ GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1 http://identifiers.org/clinvar/146501 ^@ GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 http://identifiers.org/clinvar/146502 ^@ GRCh38/hg38 14q31.3(chr14:85815543-87531777)x3 http://identifiers.org/clinvar/146504 ^@ GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1 http://identifiers.org/clinvar/146507 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 http://identifiers.org/clinvar/146508 ^@ GRCh38/hg38 11p14.2-14.1(chr11:26984514-27203827)x1 http://identifiers.org/clinvar/146509 ^@ GRCh38/hg38 6q16.3(chr6:100435760-100463636)x3 http://identifiers.org/clinvar/146510 ^@ GRCh38/hg38 Xp22.31(chrX:7072209-9374317)x0 http://identifiers.org/clinvar/146511 ^@ GRCh38/hg38 18q12.3(chr18:40175970-40718809)x1 http://identifiers.org/clinvar/146512 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3 http://identifiers.org/clinvar/146513 ^@ GRCh38/hg38 8q24.23(chr8:135734569-136313661)x1 http://identifiers.org/clinvar/146514 ^@ GRCh38/hg38 13q34(chr13:114298587-114327173)x1 http://identifiers.org/clinvar/146515 ^@ GRCh38/hg38 20p13(chr20:89939-1246891)x3 http://identifiers.org/clinvar/146516 ^@ GRCh38/hg38 1q41(chr1:220673535-223683512)x1 http://identifiers.org/clinvar/146517 ^@ GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 http://identifiers.org/clinvar/146518 ^@ GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1 http://identifiers.org/clinvar/146519 ^@ GRCh38/hg38 13q31.3-32.1(chr13:93908109-94449189)x3 http://identifiers.org/clinvar/146520 ^@ GRCh38/hg38 5p12-11(chr5:45414481-46114984)x3 http://identifiers.org/clinvar/146523 ^@ GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1 http://identifiers.org/clinvar/146526 ^@ GRCh38/hg38 4q28.3(chr4:131345585-131985312)x3 http://identifiers.org/clinvar/146529 ^@ GRCh38/hg38 20p13(chr20:89939-1494113)x1 http://identifiers.org/clinvar/146530 ^@ GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 http://identifiers.org/clinvar/146535 ^@ GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 http://identifiers.org/clinvar/146536 ^@ GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 http://identifiers.org/clinvar/146537 ^@ GRCh38/hg38 19q11-12(chr19:27362299-28373339)x3 http://identifiers.org/clinvar/146538 ^@ GRCh38/hg38 7q11.21(chr7:65039567-65804880)x1 http://identifiers.org/clinvar/146539 ^@ GRCh38/hg38 20p12.1(chr20:14648477-14818511)x1 http://identifiers.org/clinvar/146540 ^@ GRCh38/hg38 6q11.1(chr6:61821881-62167348)x1 http://identifiers.org/clinvar/146541 ^@ GRCh38/hg38 8q24.21-24.22(chr8:130030535-130742761)x3 http://identifiers.org/clinvar/146543 ^@ GRCh38/hg38 9p24.3(chr9:280255-753314)x1 http://identifiers.org/clinvar/146544 ^@ GRCh38/hg38 4p15.31(chr4:18360417-19175273)x3 http://identifiers.org/clinvar/146546 ^@ GRCh38/hg38 14q12(chr14:26375490-26704825)x1 http://identifiers.org/clinvar/146547 ^@ GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1 http://identifiers.org/clinvar/146552 ^@ GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 http://identifiers.org/clinvar/146553 ^@ GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1 http://identifiers.org/clinvar/146554 ^@ GRCh38/hg38 2q36.1(chr2:221387619-221947046)x1 http://identifiers.org/clinvar/146555 ^@ GRCh38/hg38 16p13.3(chr16:6099326-6384199)x1 http://identifiers.org/clinvar/146557 ^@ GRCh38/hg38 6q14.1(chr6:75548198-75783637)x3 http://identifiers.org/clinvar/146558 ^@ GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 http://identifiers.org/clinvar/146559 ^@ GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1 http://identifiers.org/clinvar/146560 ^@ GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1 http://identifiers.org/clinvar/146563 ^@ GRCh38/hg38 20q13.33(chr20:62136723-62197472)x3 http://identifiers.org/clinvar/146564 ^@ GRCh38/hg38 17p13.2(chr17:5537991-5808557)x3 http://identifiers.org/clinvar/146565 ^@ GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1 http://identifiers.org/clinvar/146566 ^@ GRCh38/hg38 8p22-21.3(chr8:18988335-19599269)x3 http://identifiers.org/clinvar/146567 ^@ GRCh38/hg38 2q32.1-32.2(chr2:188489709-188597825)x1 http://identifiers.org/clinvar/146568 ^@ GRCh38/hg38 1q44(chr1:247037209-247101457)x1 http://identifiers.org/clinvar/146570 ^@ GRCh38/hg38 15q26.3(chr15:99951833-100051736)x3 http://identifiers.org/clinvar/146571 ^@ GRCh38/hg38 3p25.2(chr3:12642555-12734272)x3 http://identifiers.org/clinvar/146572 ^@ GRCh38/hg38 Xq22.2(chrX:103965839-104014623)x2 http://identifiers.org/clinvar/146573 ^@ GRCh38/hg38 Xq22.2(chrX:103965839-104014623)x3 http://identifiers.org/clinvar/146574 ^@ GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 http://identifiers.org/clinvar/146575 ^@ GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 http://identifiers.org/clinvar/146576 ^@ GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 http://identifiers.org/clinvar/146577 ^@ GRCh38/hg38 9p24.3(chr9:556625-703693)x1 http://identifiers.org/clinvar/146578 ^@ GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 http://identifiers.org/clinvar/146579 ^@ GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 http://identifiers.org/clinvar/146580 ^@ GRCh38/hg38 7p14.1(chr7:41084766-42566517)x1 http://identifiers.org/clinvar/146581 ^@ GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 http://identifiers.org/clinvar/146582 ^@ GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1 http://identifiers.org/clinvar/146583 ^@ GRCh38/hg38 7p13(chr7:44287818-44581121)x3 http://identifiers.org/clinvar/146584 ^@ GRCh38/hg38 12p11.23(chr12:27225978-27575769)x3 http://identifiers.org/clinvar/146585 ^@ GRCh38/hg38 10q26.13(chr10:122741466-122844963)x3 http://identifiers.org/clinvar/146586 ^@ GRCh38/hg38 14q32.33(chr14:105463515-105530212)x3 http://identifiers.org/clinvar/146587 ^@ GRCh38/hg38 14q22.3(chr14:56101817-56352516)x3 http://identifiers.org/clinvar/146588 ^@ GRCh38/hg38 9p22.1(chr9:19096650-19096709)x3 http://identifiers.org/clinvar/146589 ^@ GRCh38/hg38 22q13.2(chr22:40732506-40892856)x3 http://identifiers.org/clinvar/146590 ^@ GRCh38/hg38 17q22(chr17:54504880-54964104)x3 http://identifiers.org/clinvar/146591 ^@ GRCh38/hg38 10q23.31(chr10:90603795-90835134)x3 http://identifiers.org/clinvar/146592 ^@ GRCh38/hg38 8q23.1(chr8:106295584-106657774)x3 http://identifiers.org/clinvar/146594 ^@ GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 http://identifiers.org/clinvar/146595 ^@ GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 http://identifiers.org/clinvar/146596 ^@ GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 http://identifiers.org/clinvar/146597 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 http://identifiers.org/clinvar/146598 ^@ GRCh38/hg38 6q13(chr6:71845502-72098192)x1 http://identifiers.org/clinvar/146600 ^@ GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1 http://identifiers.org/clinvar/146601 ^@ GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 http://identifiers.org/clinvar/146602 ^@ GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 http://identifiers.org/clinvar/146603 ^@ GRCh38/hg38 1q31.3(chr1:196827974-196914268)x3 http://identifiers.org/clinvar/146604 ^@ GRCh38/hg38 15q15.3(chr15:43596729-43646649)x1 http://identifiers.org/clinvar/146605 ^@ GRCh38/hg38 8p23.1(chr8:6872995-6937548)x1 http://identifiers.org/clinvar/146606 ^@ GRCh38/hg38 17q21.31(chr17:46133397-46267672)x3 http://identifiers.org/clinvar/146607 ^@ GRCh38/hg38 17q21.31(chr17:46133397-46267672)x1 http://identifiers.org/clinvar/146608 ^@ GRCh38/hg38 6q26(chr6:161232208-161348695)x3 http://identifiers.org/clinvar/146609 ^@ GRCh38/hg38 11q12.1(chr11:55936260-56048836)x1 http://identifiers.org/clinvar/146610 ^@ GRCh38/hg38 12p13.31(chr12:7850818-7936064)x1 http://identifiers.org/clinvar/146611 ^@ GRCh38/hg38 1q44(chr1:247532391-247897117)x3 http://identifiers.org/clinvar/146614 ^@ GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 http://identifiers.org/clinvar/146615 ^@ GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 http://identifiers.org/clinvar/146616 ^@ GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 http://identifiers.org/clinvar/146617 ^@ GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 http://identifiers.org/clinvar/146618 ^@ GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 http://identifiers.org/clinvar/146619 ^@ GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 http://identifiers.org/clinvar/146620 ^@ GRCh38/hg38 Xq12(chrX:68060610-68353960)x2 http://identifiers.org/clinvar/146621 ^@ GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 http://identifiers.org/clinvar/146622 ^@ GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0 http://identifiers.org/clinvar/146623 ^@ GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1 http://identifiers.org/clinvar/146626 ^@ GRCh38/hg38 10q23.31(chr10:88476440-88581724)x1 http://identifiers.org/clinvar/146627 ^@ GRCh38/hg38 14q12(chr14:26599780-27710714)x1 http://identifiers.org/clinvar/146628 ^@ GRCh38/hg38 2p13.3(chr2:70477119-70533315)x3 http://identifiers.org/clinvar/146629 ^@ GRCh38/hg38 1p21.1(chr1:103280931-103754679)x1 http://identifiers.org/clinvar/146630 ^@ GRCh38/hg38 2p16.1(chr2:60886284-60922484)x1 http://identifiers.org/clinvar/146631 ^@ GRCh38/hg38 6q27(chr6:170230802-170358419)x1 http://identifiers.org/clinvar/146632 ^@ GRCh38/hg38 2q13(chr2:110143816-110222824)x1 http://identifiers.org/clinvar/146633 ^@ GRCh38/hg38 5q31.3(chr5:141190858-141192504)x1 http://identifiers.org/clinvar/146634 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 http://identifiers.org/clinvar/146635 ^@ GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1 http://identifiers.org/clinvar/146636 ^@ GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3 http://identifiers.org/clinvar/146637 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 http://identifiers.org/clinvar/146638 ^@ GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 http://identifiers.org/clinvar/146639 ^@ GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1 http://identifiers.org/clinvar/146640 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 http://identifiers.org/clinvar/146641 ^@ GRCh38/hg38 7q34(chr7:142721510-142779344)x1 http://identifiers.org/clinvar/146643 ^@ GRCh38/hg38 14q11.2(chr14:21854413-22495939)x1 http://identifiers.org/clinvar/146644 ^@ GRCh38/hg38 Xp11.3(chrX:46548195-46673443)x2 http://identifiers.org/clinvar/146645 ^@ GRCh38/hg38 7q35(chr7:143728325-143728946)x1 http://identifiers.org/clinvar/146646 ^@ GRCh38/hg38 5q23.3(chr5:129434947-129762848)x3 http://identifiers.org/clinvar/146647 ^@ GRCh38/hg38 1p36.21(chr1:12800662-12858960)x1 http://identifiers.org/clinvar/146648 ^@ GRCh38/hg38 20q13.12(chr20:45304962-45374661)x3 http://identifiers.org/clinvar/146649 ^@ GRCh38/hg38 5q12.3(chr5:64344867-64370545)x1 http://identifiers.org/clinvar/146650 ^@ GRCh38/hg38 4q32.3(chr4:164958519-165250486)x3 http://identifiers.org/clinvar/146652 ^@ GRCh38/hg38 10q26.3(chr10:133421283-133558988)x1 http://identifiers.org/clinvar/146653 ^@ GRCh38/hg38 7p14.1(chr7:41581600-41694692)x1 http://identifiers.org/clinvar/146654 ^@ GRCh38/hg38 1p36.13(chr1:16621632-16905322)x1 http://identifiers.org/clinvar/146655 ^@ GRCh38/hg38 22q11.23(chr22:25268651-25496286)x3 http://identifiers.org/clinvar/146656 ^@ GRCh38/hg38 10q26.2(chr10:126108609-126379850)x3 http://identifiers.org/clinvar/146657 ^@ GRCh38/hg38 17p11.2(chr17:18701974-18954766)x3 http://identifiers.org/clinvar/146658 ^@ GRCh38/hg38 3q29(chr3:195537179-195732718)x3 http://identifiers.org/clinvar/146659 ^@ GRCh38/hg38 19p12(chr19:22071063-22118991)x1 http://identifiers.org/clinvar/146660 ^@ GRCh38/hg38 22q13.2(chr22:41251925-41281290)x3 http://identifiers.org/clinvar/146663 ^@ GRCh38/hg38 5q35.3(chr5:180581319-180846638)x3 http://identifiers.org/clinvar/146664 ^@ GRCh38/hg38 18q12.2(chr18:36798395-37271836)x3 http://identifiers.org/clinvar/146665 ^@ GRCh38/hg38 1q25.3(chr1:183892070-184122138)x3 http://identifiers.org/clinvar/146667 ^@ GRCh38/hg38 16p13.12(chr16:13922139-13957164)x3 http://identifiers.org/clinvar/146668 ^@ GRCh38/hg38 1p36.13(chr1:16615158-16905322)x3 http://identifiers.org/clinvar/146669 ^@ GRCh38/hg38 6p25.1(chr6:6410889-6591309)x1 http://identifiers.org/clinvar/146670 ^@ GRCh38/hg38 1p21.1(chr1:104639363-106693464)x1 http://identifiers.org/clinvar/146671 ^@ GRCh38/hg38 7q11.22(chr7:70755701-71046143)x3 http://identifiers.org/clinvar/146672 ^@ GRCh38/hg38 3q26.31(chr3:174229965-174748860)x3 http://identifiers.org/clinvar/146673 ^@ GRCh38/hg38 4q34.3-35.1(chr4:181736380-182329073)x3 http://identifiers.org/clinvar/146675 ^@ GRCh38/hg38 4p16.1-15.33(chr4:11233887-11985512)x3 http://identifiers.org/clinvar/146676 ^@ GRCh38/hg38 8q12.1(chr8:57078506-57876442)x3 http://identifiers.org/clinvar/146678 ^@ GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3 http://identifiers.org/clinvar/146680 ^@ GRCh38/hg38 Xp22.32-22.31(chrX:6052907-6434382)x2 http://identifiers.org/clinvar/146682 ^@ GRCh38/hg38 5p15.33(chr5:924086-1544344)x3 http://identifiers.org/clinvar/146683 ^@ GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 http://identifiers.org/clinvar/146684 ^@ GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 http://identifiers.org/clinvar/146687 ^@ GRCh38/hg38 1q21.1(chr1:145646117-146019823)x1 http://identifiers.org/clinvar/146688 ^@ GRCh38/hg38 7q35-36.1(chr7:145999194-148860586)x1 http://identifiers.org/clinvar/146689 ^@ GRCh38/hg38 13q12.12(chr13:22822881-23533846)x1 http://identifiers.org/clinvar/146690 ^@ GRCh38/hg38 18q23(chr18:79754409-79877194)x1 http://identifiers.org/clinvar/146691 ^@ GRCh38/hg38 9p21.3-21.2(chr9:25548165-25702908)x1 http://identifiers.org/clinvar/146692 ^@ GRCh38/hg38 2p21(chr2:45084321-45215291)x1 http://identifiers.org/clinvar/146693 ^@ GRCh38/hg38 14q21.1(chr14:38088975-38648187)x3 http://identifiers.org/clinvar/146694 ^@ GRCh38/hg38 8p22(chr8:15424539-16122483)x3 http://identifiers.org/clinvar/146695 ^@ GRCh38/hg38 3q26.1(chr3:161302046-162086872)x3 http://identifiers.org/clinvar/146697 ^@ GRCh38/hg38 Xp11.3(chrX:45555332-46436439)x2 http://identifiers.org/clinvar/146698 ^@ GRCh38/hg38 15q22.2(chr15:59565894-59705977)x1 http://identifiers.org/clinvar/146699 ^@ GRCh38/hg38 6q14.3-15(chr6:86259565-87312972)x3 http://identifiers.org/clinvar/146700 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/146701 ^@ GRCh38/hg38 Xq28(chrX:148008451-148757955)x3 http://identifiers.org/clinvar/146702 ^@ GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 http://identifiers.org/clinvar/146703 ^@ GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 http://identifiers.org/clinvar/146704 ^@ GRCh38/hg38 2q32.3(chr2:193305897-193900771)x3 http://identifiers.org/clinvar/146705 ^@ GRCh38/hg38 17q12(chr17:33777728-34301601)x3 http://identifiers.org/clinvar/146706 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143515074-144625016)x1 http://identifiers.org/clinvar/146707 ^@ GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 http://identifiers.org/clinvar/146709 ^@ GRCh38/hg38 2p12(chr2:75252967-76559478)x3 http://identifiers.org/clinvar/146710 ^@ GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1 http://identifiers.org/clinvar/146711 ^@ GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 http://identifiers.org/clinvar/146712 ^@ GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1 http://identifiers.org/clinvar/146713 ^@ GRCh38/hg38 Xp22.31(chrX:8548406-8752717)x2 http://identifiers.org/clinvar/146714 ^@ GRCh38/hg38 7p21.3(chr7:9699856-10755511)x1 http://identifiers.org/clinvar/146715 ^@ GRCh38/hg38 19p12(chr19:23629461-24183272)x3 http://identifiers.org/clinvar/146716 ^@ GRCh38/hg38 7q11.21(chr7:62736364-63368276)x3 http://identifiers.org/clinvar/146718 ^@ GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 http://identifiers.org/clinvar/146719 ^@ GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 http://identifiers.org/clinvar/146722 ^@ GRCh38/hg38 3p26.3(chr3:1780588-2045586)x3 http://identifiers.org/clinvar/146723 ^@ GRCh38/hg38 5p12(chr5:45566861-45872726)x3 http://identifiers.org/clinvar/146724 ^@ GRCh38/hg38 20p13(chr20:80093-127625)x3 http://identifiers.org/clinvar/146725 ^@ GRCh38/hg38 Xq26.2-26.3(chrX:134405152-134565964)x2 http://identifiers.org/clinvar/146726 ^@ GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 http://identifiers.org/clinvar/146727 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3 http://identifiers.org/clinvar/146728 ^@ GRCh38/hg38 16p13.11(chr16:15457205-16100718)x3 http://identifiers.org/clinvar/146730 ^@ GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3 http://identifiers.org/clinvar/146731 ^@ GRCh38/hg38 7q11.21(chr7:65149475-65606012)x1 http://identifiers.org/clinvar/146732 ^@ GRCh38/hg38 7q11.23(chr7:76509969-76927755)x3 http://identifiers.org/clinvar/146733 ^@ GRCh38/hg38 10q26.3(chr10:133482243-133563886)x3 http://identifiers.org/clinvar/146734 ^@ GRCh38/hg38 5q13.2(chr5:70076623-71291192)x1 http://identifiers.org/clinvar/146735 ^@ GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 http://identifiers.org/clinvar/146736 ^@ GRCh38/hg38 15q11.2(chr15:22787833-23066575)x3 http://identifiers.org/clinvar/146737 ^@ GRCh38/hg38 3q22.2-22.3(chr3:134824436-136787321)x3 http://identifiers.org/clinvar/146738 ^@ GRCh38/hg38 16p12.2(chr16:21827098-22396630)x1 http://identifiers.org/clinvar/146739 ^@ GRCh38/hg38 14q32.33(chr14:106208348-106467748)x1 http://identifiers.org/clinvar/146740 ^@ GRCh38/hg38 6p25.3(chr6:265806-588274)x3 http://identifiers.org/clinvar/146742 ^@ GRCh38/hg38 Xp22.13(chrX:18644057-18672058)x0 http://identifiers.org/clinvar/146744 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247701-35492994)x3 http://identifiers.org/clinvar/146745 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247701-35492994)x1 http://identifiers.org/clinvar/146746 ^@ GRCh38/hg38 2q37.3(chr2:241923874-242016199)x3 http://identifiers.org/clinvar/146747 ^@ GRCh38/hg38 4q26(chr4:115759940-116214501)x3 http://identifiers.org/clinvar/146749 ^@ GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 http://identifiers.org/clinvar/146750 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3 http://identifiers.org/clinvar/146751 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1 http://identifiers.org/clinvar/146752 ^@ GRCh38/hg38 10q26.3(chr10:133429127-133591046)x3 http://identifiers.org/clinvar/146753 ^@ GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 http://identifiers.org/clinvar/146754 ^@ GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 http://identifiers.org/clinvar/146755 ^@ GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 http://identifiers.org/clinvar/146756 ^@ GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3 http://identifiers.org/clinvar/146757 ^@ GRCh38/hg38 2q34(chr2:213061148-213780664)x1 http://identifiers.org/clinvar/146760 ^@ GRCh38/hg38 17q21.31(chr17:46130519-46661960)x1 http://identifiers.org/clinvar/146761 ^@ GRCh38/hg38 8p23.1(chr8:7411303-8364508)x3 http://identifiers.org/clinvar/146762 ^@ GRCh38/hg38 2p16.3(chr2:50716342-50801952)x1 http://identifiers.org/clinvar/146763 ^@ GRCh38/hg38 6q12(chr6:64725183-64994323)x1 http://identifiers.org/clinvar/146764 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 http://identifiers.org/clinvar/146765 ^@ GRCh38/hg38 14q32.33(chr14:106208348-106396271)x1 http://identifiers.org/clinvar/146766 ^@ GRCh38/hg38 14q32.33(chr14:106704829-106771879)x1 http://identifiers.org/clinvar/146767 ^@ GRCh38/hg38 3p26.3(chr3:52747-118096)x3 http://identifiers.org/clinvar/146768 ^@ GRCh38/hg38 5q23.2(chr5:126786744-126801470)x3 http://identifiers.org/clinvar/146769 ^@ GRCh38/hg38 6q26(chr6:162327214-162629368)x3 http://identifiers.org/clinvar/146770 ^@ GRCh38/hg38 8p23.1(chr8:7195674-8273109)x1 http://identifiers.org/clinvar/146771 ^@ GRCh38/hg38 1p36.32(chr1:2701912-3244554)x3 http://identifiers.org/clinvar/146773 ^@ GRCh38/hg38 1q44(chr1:247682929-248093696)x3 http://identifiers.org/clinvar/146774 ^@ GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1 http://identifiers.org/clinvar/146775 ^@ GRCh38/hg38 2q14.3(chr2:125371863-125873206)x1 http://identifiers.org/clinvar/146776 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 http://identifiers.org/clinvar/146777 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 http://identifiers.org/clinvar/146778 ^@ GRCh38/hg38 Xq13.1(chrX:70974174-71207055)x2 http://identifiers.org/clinvar/146779 ^@ GRCh38/hg38 6p25.3(chr6:279208-289298)x3 http://identifiers.org/clinvar/146780 ^@ GRCh37/hg19 1q21.2(chr1:149041023-149699396)x1 http://identifiers.org/clinvar/146781 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 http://identifiers.org/clinvar/146782 ^@ GRCh38/hg38 10q26.3(chr10:133421259-133591046)x3 http://identifiers.org/clinvar/146783 ^@ GRCh38/hg38 11q25(chr11:134685596-134867731)x3 http://identifiers.org/clinvar/146784 ^@ GRCh38/hg38 7q36.3(chr7:156994164-157006848)x3 http://identifiers.org/clinvar/146785 ^@ GRCh38/hg38 7q36.3(chr7:157028893-159335865)x1 http://identifiers.org/clinvar/146786 ^@ GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 http://identifiers.org/clinvar/146787 ^@ GRCh38/hg38 Xp22.33(chrX:936346-1308518)x3 http://identifiers.org/clinvar/146789 ^@ GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1 http://identifiers.org/clinvar/146790 ^@ GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 http://identifiers.org/clinvar/146791 ^@ GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 http://identifiers.org/clinvar/146792 ^@ GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 http://identifiers.org/clinvar/146793 ^@ GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 http://identifiers.org/clinvar/146794 ^@ GRCh38/hg38 10q11.21(chr10:42334773-42860962)x1 http://identifiers.org/clinvar/146795 ^@ GRCh38/hg38 3p26.3(chr3:228954-241339)x1 http://identifiers.org/clinvar/146796 ^@ GRCh38/hg38 7q36.3(chr7:158082372-158565844)x3 http://identifiers.org/clinvar/146797 ^@ GRCh38/hg38 10q26.3(chr10:131457389-131922176)x3 http://identifiers.org/clinvar/146798 ^@ GRCh38/hg38 1p21.2(chr1:99515860-100031916)x3 http://identifiers.org/clinvar/146799 ^@ GRCh38/hg38 6p25.3(chr6:259911-293497)x1 http://identifiers.org/clinvar/146800 ^@ GRCh38/hg38 22q11.21(chr22:20400117-21086226)x1 http://identifiers.org/clinvar/146801 ^@ GRCh38/hg38 2q32.3(chr2:192720034-193122437)x1 http://identifiers.org/clinvar/146802 ^@ GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1 http://identifiers.org/clinvar/146803 ^@ GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3 http://identifiers.org/clinvar/146804 ^@ GRCh38/hg38 Xp21.2(chrX:29520795-29619551)x0 http://identifiers.org/clinvar/146805 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/146806 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 http://identifiers.org/clinvar/146807 ^@ GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1 http://identifiers.org/clinvar/146808 ^@ GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 http://identifiers.org/clinvar/146809 ^@ GRCh38/hg38 13q21.33(chr13:70647033-71399400)x1 http://identifiers.org/clinvar/146810 ^@ GRCh38/hg38 7q35(chr7:146237454-146437866)x1 http://identifiers.org/clinvar/146811 ^@ GRCh38/hg38 15q13.3-14(chr15:33177238-33517440)x1 http://identifiers.org/clinvar/146812 ^@ GRCh38/hg38 9p24.3(chr9:204090-260429)x1 http://identifiers.org/clinvar/146813 ^@ GRCh38/hg38 2p22.1(chr2:39037204-39369028)x3 http://identifiers.org/clinvar/146814 ^@ GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 http://identifiers.org/clinvar/146815 ^@ GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3 http://identifiers.org/clinvar/146816 ^@ GRCh38/hg38 14q24.3(chr14:76319351-76844718)x3 http://identifiers.org/clinvar/146817 ^@ GRCh38/hg38 5p15.33(chr5:71798-116731)x3 http://identifiers.org/clinvar/146818 ^@ GRCh38/hg38 2q32.1(chr2:187633574-188159928)x3 http://identifiers.org/clinvar/146819 ^@ GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3 http://identifiers.org/clinvar/146820 ^@ GRCh38/hg38 Xp22.31(chrX:6534640-8129470)x2 http://identifiers.org/clinvar/146821 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 http://identifiers.org/clinvar/146822 ^@ GRCh38/hg38 Xp22.31(chrX:6534640-8129470)x3 http://identifiers.org/clinvar/146823 ^@ GRCh38/hg38 8p12(chr8:31750519-32478810)x3 http://identifiers.org/clinvar/146825 ^@ GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 http://identifiers.org/clinvar/146826 ^@ GRCh38/hg38 14q32.33(chr14:106623930-106696009)x1 http://identifiers.org/clinvar/146827 ^@ GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3 http://identifiers.org/clinvar/146828 ^@ GRCh38/hg38 7q21.13(chr7:88763658-90066533)x3 http://identifiers.org/clinvar/146829 ^@ GRCh38/hg38 17p13.2(chr17:3638550-3656739)x1 http://identifiers.org/clinvar/146830 ^@ GRCh38/hg38 4p16.1(chr4:9813220-10817946)x3 http://identifiers.org/clinvar/146831 ^@ GRCh38/hg38 9q31.1(chr9:104300531-104730156)x3 http://identifiers.org/clinvar/146832 ^@ GRCh38/hg38 6q26(chr6:162163288-162819968)x3 http://identifiers.org/clinvar/146833 ^@ GRCh38/hg38 7q36.3(chr7:159296711-159332897)x1 http://identifiers.org/clinvar/146834 ^@ GRCh38/hg38 8p23.1(chr8:7512656-7948705)x1 http://identifiers.org/clinvar/146835 ^@ GRCh38/hg38 3p14.1(chr3:65939499-66269258)x3 http://identifiers.org/clinvar/146836 ^@ GRCh38/hg38 2q37.2-37.3(chr2:236180530-237034528)x3 http://identifiers.org/clinvar/146837 ^@ GRCh38/hg38 7q11.23(chr7:76509969-76994096)x3 http://identifiers.org/clinvar/146838 ^@ GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1 http://identifiers.org/clinvar/146839 ^@ GRCh38/hg38 7q11.23(chr7:76509969-76994096)x1 http://identifiers.org/clinvar/146840 ^@ GRCh38/hg38 5q14.3(chr5:88766680-89732281)x1 http://identifiers.org/clinvar/146841 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/146842 ^@ GRCh38/hg38 15q26.3(chr15:98900305-99156016)x1 http://identifiers.org/clinvar/146843 ^@ GRCh38/hg38 5q35.3(chr5:181125331-181140133)x1 http://identifiers.org/clinvar/146844 ^@ GRCh38/hg38 2q31.2(chr2:177854074-178098736)x1 http://identifiers.org/clinvar/146845 ^@ GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 http://identifiers.org/clinvar/146847 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 http://identifiers.org/clinvar/146848 ^@ GRCh38/hg38 2q37.2-37.3(chr2:236224888-236827745)x3 http://identifiers.org/clinvar/146849 ^@ GRCh38/hg38 5p15.33(chr5:22149-86251)x3 http://identifiers.org/clinvar/146850 ^@ GRCh38/hg38 Xp22.31(chrX:6570421-8129470)x1 http://identifiers.org/clinvar/146851 ^@ GRCh38/hg38 15q25.2(chr15:83598551-84060830)x3 http://identifiers.org/clinvar/146852 ^@ GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 http://identifiers.org/clinvar/146853 ^@ GRCh38/hg38 4p16.3(chr4:37335-59399)x1 http://identifiers.org/clinvar/146854 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 http://identifiers.org/clinvar/146855 ^@ GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 http://identifiers.org/clinvar/146856 ^@ GRCh38/hg38 3q29(chr3:197862644-198021643)x3 http://identifiers.org/clinvar/146857 ^@ GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) http://identifiers.org/clinvar/146858 ^@ GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 http://identifiers.org/clinvar/146859 ^@ GRCh38/hg38 3p25.2(chr3:12591863-12663619)x3 http://identifiers.org/clinvar/146861 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 http://identifiers.org/clinvar/146862 ^@ GRCh38/hg38 16q24.3(chr16:90020443-90081992)x1 http://identifiers.org/clinvar/146863 ^@ GRCh38/hg38 19p13.3(chr19:260928-307812)x3 http://identifiers.org/clinvar/146864 ^@ GRCh38/hg38 2p25.3(chr2:24400-57011)x3 http://identifiers.org/clinvar/146865 ^@ GRCh38/hg38 3p13(chr3:69914878-70489155)x1 http://identifiers.org/clinvar/146866 ^@ GRCh38/hg38 Xq26.2(chrX:133687309-134090471)x0 http://identifiers.org/clinvar/146867 ^@ GRCh38/hg38 2q32.3(chr2:193427440-194079321)x3 http://identifiers.org/clinvar/146868 ^@ GRCh38/hg38 10q24.32(chr10:101434986-101689541)x3 http://identifiers.org/clinvar/146869 ^@ GRCh38/hg38 15q11.2(chr15:22726999-23057280)x1 http://identifiers.org/clinvar/146870 ^@ GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 http://identifiers.org/clinvar/146871 ^@ GRCh38/hg38 7q35(chr7:143735880-144409525)x3 http://identifiers.org/clinvar/146872 ^@ GRCh38/hg38 8p23.1(chr8:7411303-8222390)x3 http://identifiers.org/clinvar/146873 ^@ GRCh38/hg38 5q13.2(chr5:70436335-71291192)x3 http://identifiers.org/clinvar/146874 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0 http://identifiers.org/clinvar/146875 ^@ GRCh38/hg38 4q22.1(chr4:91475388-92263153)x3 http://identifiers.org/clinvar/146876 ^@ GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 http://identifiers.org/clinvar/146877 ^@ GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1 http://identifiers.org/clinvar/146878 ^@ GRCh38/hg38 4q34.1(chr4:173734069-173820899)x3 http://identifiers.org/clinvar/146879 ^@ GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 http://identifiers.org/clinvar/146880 ^@ GRCh38/hg38 4q35.2(chr4:189792437-190018234)x1 http://identifiers.org/clinvar/146881 ^@ GRCh38/hg38 18q22.3(chr18:74416892-74651188)x3 http://identifiers.org/clinvar/146884 ^@ GRCh38/hg38 7q11.21(chr7:62570287-63525125)x3 http://identifiers.org/clinvar/146885 ^@ GRCh38/hg38 18q23(chr18:76406716-76539447)x3 http://identifiers.org/clinvar/146887 ^@ GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 http://identifiers.org/clinvar/146888 ^@ GRCh38/hg38 8p12(chr8:35500597-36370018)x1 http://identifiers.org/clinvar/146891 ^@ GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 http://identifiers.org/clinvar/146894 ^@ GRCh38/hg38 9p24.3(chr9:204104-343954)x3 http://identifiers.org/clinvar/146895 ^@ GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 http://identifiers.org/clinvar/146896 ^@ GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1 http://identifiers.org/clinvar/146897 ^@ GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3 http://identifiers.org/clinvar/146898 ^@ GRCh38/hg38 13q12.11(chr13:19503409-20005117)x3 http://identifiers.org/clinvar/146899 ^@ GRCh38/hg38 15q13.3(chr15:31729530-32218662)x3 http://identifiers.org/clinvar/146900 ^@ GRCh37/hg19 21p11.1-q11.2(chr21:10991392-14417582)x3 http://identifiers.org/clinvar/146901 ^@ GRCh38/hg38 15q13.3(chr15:31729530-32057841)x3 http://identifiers.org/clinvar/146905 ^@ GRCh38/hg38 15q11.2(chr15:22358243-23006180)x3 http://identifiers.org/clinvar/146906 ^@ GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 http://identifiers.org/clinvar/146907 ^@ GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3 http://identifiers.org/clinvar/146908 ^@ GRCh38/hg38 22q13.33(chr22:49199841-49787792)x3 http://identifiers.org/clinvar/146911 ^@ GRCh38/hg38 16q22.2(chr16:70826583-71162574)x1 http://identifiers.org/clinvar/146912 ^@ GRCh38/hg38 2p22.1(chr2:39185829-39378125)x3 http://identifiers.org/clinvar/146913 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1 http://identifiers.org/clinvar/146914 ^@ GRCh38/hg38 6p23-22.3(chr6:14545345-16062792)x3 http://identifiers.org/clinvar/146916 ^@ GRCh38/hg38 11p15.4(chr11:2883714-2883812)x3 http://identifiers.org/clinvar/146919 ^@ GRCh38/hg38 16q22.2(chr16:70896022-71162574)x1 http://identifiers.org/clinvar/146920 ^@ GRCh38/hg38 16q23.3(chr16:82173150-83629769)x3 http://identifiers.org/clinvar/146921 ^@ GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 http://identifiers.org/clinvar/146922 ^@ GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1 http://identifiers.org/clinvar/146923 ^@ GRCh38/hg38 13q31.2-31.3(chr13:89389643-89598963)x1 http://identifiers.org/clinvar/146924 ^@ GRCh38/hg38 2p22.1(chr2:39054693-39369157)x3 http://identifiers.org/clinvar/146925 ^@ GRCh38/hg38 7q11.21(chr7:65240804-65430660)x1 http://identifiers.org/clinvar/146926 ^@ GRCh38/hg38 15q13.3(chr15:31738809-32343758)x3 http://identifiers.org/clinvar/146927 ^@ GRCh38/hg38 16p13.3(chr16:6786909-6996218)x1 http://identifiers.org/clinvar/146928 ^@ GRCh38/hg38 1q31.3(chr1:194809903-195658107)x3 http://identifiers.org/clinvar/146929 ^@ GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 http://identifiers.org/clinvar/146930 ^@ GRCh38/hg38 19q12(chr19:28649927-29041050)x1 http://identifiers.org/clinvar/146931 ^@ GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 http://identifiers.org/clinvar/146932 ^@ GRCh38/hg38 1q44(chr1:248176668-248406116)x3 http://identifiers.org/clinvar/146933 ^@ GRCh38/hg38 1q44(chr1:248564628-248622232)x1 http://identifiers.org/clinvar/146934 ^@ GRCh38/hg38 10q21.3(chr10:66491807-66668026)x1 http://identifiers.org/clinvar/146935 ^@ GRCh38/hg38 12p13.2(chr12:11360482-11400550)x3 http://identifiers.org/clinvar/146936 ^@ GRCh38/hg38 14q11.2(chr14:18658128-19967729)x1 http://identifiers.org/clinvar/146937 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20188973-22301831)x1 http://identifiers.org/clinvar/146938 ^@ GRCh38/hg38 16p11.2(chr16:31974836-33970667)x1 http://identifiers.org/clinvar/146939 ^@ GRCh38/hg38 17q12(chr17:36180741-36266291)x3 http://identifiers.org/clinvar/146940 ^@ GRCh38/hg38 17q21.31(chr17:46111105-46291496)x1 http://identifiers.org/clinvar/146941 ^@ GRCh38/hg38 4p16.3(chr4:4027514-4207444)x1 http://identifiers.org/clinvar/146942 ^@ GRCh38/hg38 4q13.2(chr4:69288177-69337501)x3 http://identifiers.org/clinvar/146943 ^@ GRCh38/hg38 7q34(chr7:142699919-142764809)x1 http://identifiers.org/clinvar/146944 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32584357)x3 http://identifiers.org/clinvar/146945 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32584357)x0 http://identifiers.org/clinvar/146946 ^@ GRCh38/hg38 8p23.1(chr8:7514138-7834409)x3 http://identifiers.org/clinvar/146947 ^@ GRCh38/hg38 14q11.2(chr14:18600315-19946044)x3 http://identifiers.org/clinvar/146948 ^@ GRCh38/hg38 8p11.22(chr8:39401405-39487931)x1 http://identifiers.org/clinvar/146949 ^@ GRCh38/hg38 10q11.22(chr10:46401245-46564674)x3 http://identifiers.org/clinvar/146950 ^@ GRCh37/hg19 14q32.33(chr14:106538451-106572278)x3 http://identifiers.org/clinvar/146951 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20286894-22056657)x1 http://identifiers.org/clinvar/146952 ^@ GRCh38/hg38 16p11.2(chr16:32639734-33851861)x1 http://identifiers.org/clinvar/146953 ^@ GRCh37/hg19 22q11.1(chr22:16087694-16417038)x3 http://identifiers.org/clinvar/146954 ^@ GRCh38/hg38 4q13.2(chr4:68509452-68617530)x3 http://identifiers.org/clinvar/146955 ^@ GRCh38/hg38 4q13.2(chr4:68509452-68617530)x1 http://identifiers.org/clinvar/146956 ^@ GRCh38/hg38 5p15.33(chr5:692766-795659)x3 http://identifiers.org/clinvar/146957 ^@ GRCh38/hg38 5q13.2(chr5:70409765-71090744)x3 http://identifiers.org/clinvar/146958 ^@ GRCh38/hg38 7q11.23(chr7:74215861-74219254)x1 http://identifiers.org/clinvar/146959 ^@ GRCh38/hg38 8p23.1(chr8:7311998-8222369)x1 http://identifiers.org/clinvar/146960 ^@ GRCh38/hg38 8p11.22(chr8:39379949-39523106)x3 http://identifiers.org/clinvar/146961 ^@ GRCh38/hg38 9p11.2(chr9:41974349-42154906)x1 http://identifiers.org/clinvar/146962 ^@ GRCh38/hg38 9p11.1(chr9:42334696-42694877)x3 http://identifiers.org/clinvar/146963 ^@ GRCh38/hg38 14q11.2(chr14:18600315-19967729)x1 http://identifiers.org/clinvar/146964 ^@ GRCh38/hg38 15q11.2(chr15:21581401-22308242)x1 http://identifiers.org/clinvar/146965 ^@ GRCh38/hg38 15q14(chr15:34402995-34549216)x1 http://identifiers.org/clinvar/146966 ^@ GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1 http://identifiers.org/clinvar/146967 ^@ GRCh38/hg38 16p11.2(chr16:31943785-34048144)x1 http://identifiers.org/clinvar/146968 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247701-35492950)x3 http://identifiers.org/clinvar/146969 ^@ GRCh38/hg38 4p15.1(chr4:35540392-35603109)x1 http://identifiers.org/clinvar/146970 ^@ GRCh38/hg38 4q13.2(chr4:69288177-69364412)x3 http://identifiers.org/clinvar/146971 ^@ GRCh38/hg38 4q13.3(chr4:72953350-73179096)x3 http://identifiers.org/clinvar/146972 ^@ GRCh38/hg38 5p15.33(chr5:759084-820331)x3 http://identifiers.org/clinvar/146973 ^@ GRCh38/hg38 7q35(chr7:144254868-144354157)x1 http://identifiers.org/clinvar/146974 ^@ GRCh38/hg38 6p21.32(chr6:32444210-32584357)x3 http://identifiers.org/clinvar/146975 ^@ GRCh38/hg38 Xp22.33(chrX:10702-42362)x3 http://identifiers.org/clinvar/146976 ^@ GRCh38/hg38 11q25(chr11:134511768-134576237)x1 http://identifiers.org/clinvar/146977 ^@ GRCh38/hg38 14q11.2(chr14:18907993-19386058)x1 http://identifiers.org/clinvar/146978 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20419199-22308242)x1 http://identifiers.org/clinvar/146979 ^@ GRCh38/hg38 17q21.31(chr17:46247856-46681550)x1 http://identifiers.org/clinvar/146980 ^@ GRCh38/hg38 19p12(chr19:20447960-20499801)x1 http://identifiers.org/clinvar/146981 ^@ GRCh38/hg38 1p36.33(chr1:629055-714368)x1 http://identifiers.org/clinvar/146982 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20203060-20643838)x1 http://identifiers.org/clinvar/146983 ^@ GRCh38/hg38 14q11.2(chr14:18907993-19259035)x1 http://identifiers.org/clinvar/146984 ^@ GRCh38/hg38 15q11.2(chr15:20924655-22301831)x1 http://identifiers.org/clinvar/146985 ^@ GRCh38/hg38 3q26.1(chr3:162796776-162901324)x0 http://identifiers.org/clinvar/146986 ^@ GRCh38/hg38 3q26.1(chr3:162796776-162901324)x1 http://identifiers.org/clinvar/146987 ^@ GRCh38/hg38 5p15.33(chr5:710409-795659)x3 http://identifiers.org/clinvar/146988 ^@ GRCh38/hg38 6q22.31(chr6:119391021-119677461)x1 http://identifiers.org/clinvar/146989 ^@ GRCh38/hg38 8p23.1(chr8:7311998-7929893)x3 http://identifiers.org/clinvar/146990 ^@ GRCh38/hg38 8p11.22(chr8:39401405-39452100)x1 http://identifiers.org/clinvar/146991 ^@ GRCh38/hg38 Xq27.3(chrX:144295487-144598911)x3 http://identifiers.org/clinvar/146992 ^@ GRCh38/hg38 1p36.13(chr1:16600282-16722267)x1 http://identifiers.org/clinvar/146993 ^@ GRCh38/hg38 15q14(chr15:34432012-34464800)x3 http://identifiers.org/clinvar/146994 ^@ GRCh38/hg38 16q23.1(chr16:77613187-78311038)x3 http://identifiers.org/clinvar/146995 ^@ GRCh38/hg38 17q21.31(chr17:46111105-46191358)x3 http://identifiers.org/clinvar/146996 ^@ GRCh38/hg38 6p21.32(chr6:32519674-32614050)x3 http://identifiers.org/clinvar/146997 ^@ GRCh38/hg38 Xq27.2(chrX:141258990-141527921)x0 http://identifiers.org/clinvar/146998 ^@ GRCh38/hg38 14q11.2(chr14:18698325-19967729)x1 http://identifiers.org/clinvar/146999 ^@ GRCh38/hg38 16p13.3(chr16:521803-558532)x1 http://identifiers.org/clinvar/147000 ^@ GRCh38/hg38 5q13.2(chr5:70130451-71013999)x1 http://identifiers.org/clinvar/147001 ^@ GRCh38/hg38 7p22.2(chr7:3127777-3174444)x1 http://identifiers.org/clinvar/147002 ^@ GRCh38/hg38 8p22(chr8:13544257-13700544)x3 http://identifiers.org/clinvar/147003 ^@ GRCh38/hg38 1q31.3(chr1:196769797-196929505)x1 http://identifiers.org/clinvar/147004 ^@ GRCh38/hg38 12p13.31(chr12:9484757-9569233)x3 http://identifiers.org/clinvar/147005 ^@ GRCh38/hg38 12p13.31(chr12:9484757-9569233)x1 http://identifiers.org/clinvar/147006 ^@ GRCh37/hg19 14q32.33(chr14:106539719-106559073)x1 http://identifiers.org/clinvar/147007 ^@ GRCh37/hg19 14q32.33(chr14:106539719-106559073)x3 http://identifiers.org/clinvar/147008 ^@ GRCh38/hg38 15q11.2(chr15:21581401-22308242)x3 http://identifiers.org/clinvar/147009 ^@ GRCh38/hg38 16q22.1(chr16:70088002-70162852)x3 http://identifiers.org/clinvar/147010 ^@ GRCh38/hg38 2p24.3(chr2:13066912-13138680)x3 http://identifiers.org/clinvar/147011 ^@ GRCh38/hg38 6p21.33(chr6:31996089-32041483)x1 http://identifiers.org/clinvar/147012 ^@ GRCh37/hg19 22q11.23(chr22:24347988-24385948)x1 http://identifiers.org/clinvar/147013 ^@ GRCh37/hg19 22q11.23(chr22:24347988-24385948)x0 http://identifiers.org/clinvar/147014 ^@ GRCh38/hg38 4q13.2(chr4:68509451-68617530)x3 http://identifiers.org/clinvar/147015 ^@ GRCh38/hg38 4q13.2(chr4:68509451-68617530)x1 http://identifiers.org/clinvar/147016 ^@ GRCh38/hg38 8p11.22(chr8:39401570-39474982)x3 http://identifiers.org/clinvar/147017 ^@ GRCh38/hg38 9p11.2-11.1(chr9:42127440-42334695)x3 http://identifiers.org/clinvar/147018 ^@ GRCh38/hg38 9q34.3(chr9:135290089-135405669)x3 http://identifiers.org/clinvar/147019 ^@ GRCh38/hg38 Xp22.33(chrX:27606-42362)x3 http://identifiers.org/clinvar/147020 ^@ GRCh38/hg38 Xp22.33(chrX:27606-42362)x1 http://identifiers.org/clinvar/147021 ^@ GRCh38/hg38 Xp22.33(chrX:27606-42362)x0 http://identifiers.org/clinvar/147022 ^@ GRCh38/hg38 1p36.33(chr1:859245-911327)x3 http://identifiers.org/clinvar/147023 ^@ GRCh38/hg38 14q11.2(chr14:19617023-19668967)x3 http://identifiers.org/clinvar/147024 ^@ GRCh38/hg38 3p14.1(chr3:65184529-65227773)x1 http://identifiers.org/clinvar/147025 ^@ GRCh38/hg38 15q11.2(chr15:21581401-22301831)x1 http://identifiers.org/clinvar/147026 ^@ GRCh38/hg38 3q26.1(chr3:162787004-162901324)x0 http://identifiers.org/clinvar/147027 ^@ GRCh38/hg38 3q26.1(chr3:162787004-162901324)x1 http://identifiers.org/clinvar/147028 ^@ GRCh38/hg38 3q29(chr3:195692326-195711622)x3 http://identifiers.org/clinvar/147029 ^@ GRCh38/hg38 3q29(chr3:195692326-195711622)x1 http://identifiers.org/clinvar/147030 ^@ GRCh38/hg38 6p21.32(chr6:32489435-32554123)x1 http://identifiers.org/clinvar/147031 ^@ GRCh38/hg38 4q13.2(chr4:68509451-68596407)x3 http://identifiers.org/clinvar/147032 ^@ GRCh38/hg38 4q13.2(chr4:68509451-68596407)x1 http://identifiers.org/clinvar/147033 ^@ GRCh38/hg38 7q11.21(chr7:63233933-63272357)x1 http://identifiers.org/clinvar/147034 ^@ GRCh38/hg38 8p23.1(chr8:7385456-7477132)x3 http://identifiers.org/clinvar/147035 ^@ GRCh38/hg38 8p23.1(chr8:12362772-12383614)x3 http://identifiers.org/clinvar/147036 ^@ GRCh38/hg38 8q21.3(chr8:91103781-91163472)x1 http://identifiers.org/clinvar/147037 ^@ GRCh38/hg38 9p11.2-11.1(chr9:42109449-42334695)x1 http://identifiers.org/clinvar/147038 ^@ GRCh38/hg38 1p36.21(chr1:12779298-13075120)x1 http://identifiers.org/clinvar/147039 ^@ GRCh38/hg38 1q23.3(chr1:161589976-161649084)x3 http://identifiers.org/clinvar/147040 ^@ GRCh38/hg38 1q31.3(chr1:196769797-196830143)x3 http://identifiers.org/clinvar/147041 ^@ GRCh38/hg38 1q31.3(chr1:196769797-196830143)x1 http://identifiers.org/clinvar/147042 ^@ GRCh38/hg38 11q11(chr11:55600886-55683282)x0 http://identifiers.org/clinvar/147043 ^@ GRCh38/hg38 1q44(chr1:248592944-248628926)x1 http://identifiers.org/clinvar/147044 ^@ GRCh38/hg38 11q11(chr11:55600886-55683282)x3 http://identifiers.org/clinvar/147045 ^@ GRCh38/hg38 11q11(chr11:55600886-55683282)x1 http://identifiers.org/clinvar/147046 ^@ GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 http://identifiers.org/clinvar/147047 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20370423-21997369)x1 http://identifiers.org/clinvar/147048 ^@ GRCh38/hg38 15q14(chr15:34402995-34549215)x1 http://identifiers.org/clinvar/147049 ^@ GRCh38/hg38 18q21.1(chr18:47034029-47035526)x3 http://identifiers.org/clinvar/147050 ^@ GRCh38/hg38 16p13.11(chr16:14954924-14979916)x1 http://identifiers.org/clinvar/147051 ^@ GRCh38/hg38 21p11.2(chr21:10336174-10379528)x1 http://identifiers.org/clinvar/147052 ^@ GRCh38/hg38 3q26.1(chr3:162823050-162901324)x0 http://identifiers.org/clinvar/147053 ^@ GRCh38/hg38 3q26.1(chr3:162823050-162901324)x1 http://identifiers.org/clinvar/147054 ^@ GRCh38/hg38 4q13.2(chr4:69259413-69316429)x3 http://identifiers.org/clinvar/147055 ^@ GRCh38/hg38 7q34(chr7:142738202-142752593)x1 http://identifiers.org/clinvar/147056 ^@ GRCh38/hg38 9q13(chr9:63801882-63894710)x1 http://identifiers.org/clinvar/147057 ^@ GRCh38/hg38 1q21.1(chr1:143546375-143697424)x1 http://identifiers.org/clinvar/147058 ^@ GRCh38/hg38 12p13.31(chr12:9484757-9541323)x3 http://identifiers.org/clinvar/147059 ^@ GRCh38/hg38 12p13.31(chr12:9484757-9541323)x0 http://identifiers.org/clinvar/147060 ^@ GRCh38/hg38 12p13.31(chr12:9484757-9541323)x1 http://identifiers.org/clinvar/147061 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20227627-22308242)x1 http://identifiers.org/clinvar/147062 ^@ GRCh38/hg38 2q37.3(chr2:241901492-242086273)x1 http://identifiers.org/clinvar/147063 ^@ GRCh38/hg38 3p26.3(chr3:1798624-1880804)x3 http://identifiers.org/clinvar/147064 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32529554)x3 http://identifiers.org/clinvar/147065 ^@ GRCh38/hg38 6q25.3(chr6:160133052-160158522)x3 http://identifiers.org/clinvar/147066 ^@ GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 http://identifiers.org/clinvar/147067 ^@ GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3 http://identifiers.org/clinvar/147068 ^@ GRCh38/hg38 1q31.3(chr1:196830143-196922509)x1 http://identifiers.org/clinvar/147069 ^@ GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3 http://identifiers.org/clinvar/147070 ^@ GRCh38/hg38 12p13.31(chr12:9471247-9569233)x1 http://identifiers.org/clinvar/147071 ^@ GRCh38/hg38 14q11.2(chr14:18907993-19298380)x3 http://identifiers.org/clinvar/147072 ^@ GRCh38/hg38 14q32.33(chr14:106329925-106354331)x3 http://identifiers.org/clinvar/147073 ^@ GRCh38/hg38 14q32.33(chr14:106329925-106354331)x1 http://identifiers.org/clinvar/147074 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20217873-22308242)x1 http://identifiers.org/clinvar/147075 ^@ GRCh38/hg38 2p16.3(chr2:52479088-52554302)x1 http://identifiers.org/clinvar/147076 ^@ GRCh38/hg38 5q13.2(chr5:71074103-71092987)x1 http://identifiers.org/clinvar/147077 ^@ GRCh38/hg38 8p23.1(chr8:7381998-7514138)x1 http://identifiers.org/clinvar/147078 ^@ GRCh38/hg38 8p11.22(chr8:39379948-39451952)x3 http://identifiers.org/clinvar/147079 ^@ GRCh38/hg38 1q31.3(chr1:196856035-196922509)x1 http://identifiers.org/clinvar/147080 ^@ GRCh38/hg38 14q11.2(chr14:19628843-19774043)x1 http://identifiers.org/clinvar/147081 ^@ GRCh38/hg38 14q11.2(chr14:19908079-19929543)x1 http://identifiers.org/clinvar/147082 ^@ GRCh38/hg38 16p11.2(chr16:32475528-32643026)x1 http://identifiers.org/clinvar/147083 ^@ GRCh38/hg38 2p16.3(chr2:52523636-52554302)x3 http://identifiers.org/clinvar/147084 ^@ GRCh38/hg38 2p16.3(chr2:52523636-52554302)x1 http://identifiers.org/clinvar/147085 ^@ GRCh38/hg38 6p25.3(chr6:259345-289144)x1 http://identifiers.org/clinvar/147086 ^@ GRCh38/hg38 6p22.1(chr6:29887122-29969806)x1 http://identifiers.org/clinvar/147087 ^@ GRCh38/hg38 8p23.2(chr8:2605460-2936937)x3 http://identifiers.org/clinvar/147088 ^@ GRCh38/hg38 8p23.1(chr8:7381998-8222368)x1 http://identifiers.org/clinvar/147089 ^@ GRCh38/hg38 8p11.22(chr8:39401570-39505338)x3 http://identifiers.org/clinvar/147090 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20217873-22121581)x1 http://identifiers.org/clinvar/147091 ^@ GRCh38/hg38 2q37.3(chr2:242016346-242038116)x1 http://identifiers.org/clinvar/147092 ^@ GRCh38/hg38 12p13.33(chr12:54452-2558097)x1 http://identifiers.org/clinvar/147093 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32558311)x3 http://identifiers.org/clinvar/147094 ^@ GRCh38/hg38 7q34(chr7:142753059-142768220)x1 http://identifiers.org/clinvar/147095 ^@ GRCh38/hg38 7q34(chr7:142753059-142778670)x0 http://identifiers.org/clinvar/147096 ^@ GRCh38/hg38 1q21.1(chr1:143642875-143729363)x3 http://identifiers.org/clinvar/147097 ^@ GRCh38/hg38 14q11.2(chr14:19735319-19941173)x3 http://identifiers.org/clinvar/147098 ^@ GRCh38/hg38 16p11.2(chr16:32040173-33851861)x1 http://identifiers.org/clinvar/147099 ^@ GRCh38/hg38 16q21(chr16:65959446-65995373)x1 http://identifiers.org/clinvar/147100 ^@ GRCh38/hg38 2p11.2(chr2:89936685-90219425)x1 http://identifiers.org/clinvar/147101 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32578707)x3 http://identifiers.org/clinvar/147102 ^@ GRCh38/hg38 6p25.3(chr6:259345-366778)x1 http://identifiers.org/clinvar/147103 ^@ GRCh38/hg38 6p22.1(chr6:29887122-29934508)x1 http://identifiers.org/clinvar/147104 ^@ GRCh38/hg38 6p21.33(chr6:31413982-31477904)x1 http://identifiers.org/clinvar/147105 ^@ GRCh38/hg38 Xp22.33(chrX:1817227-1819791)x3 http://identifiers.org/clinvar/147106 ^@ GRCh38/hg38 Xp22.33(chrX:1817227-1819791)x1 http://identifiers.org/clinvar/147107 ^@ GRCh38/hg38 12p13.31(chr12:9484757-9535273)x1 http://identifiers.org/clinvar/147108 ^@ GRCh38/hg38 14q11.2(chr14:19617023-19967729)x1 http://identifiers.org/clinvar/147109 ^@ GRCh38/hg38 15q11.2(chr15:20995400-22308242)x3 http://identifiers.org/clinvar/147110 ^@ GRCh38/hg38 14q32.33(chr14:106450803-106475159)x1 http://identifiers.org/clinvar/147111 ^@ GRCh38/hg38 2q37.3(chr2:241930912-242086273)x1 http://identifiers.org/clinvar/147112 ^@ GRCh38/hg38 7q11.23(chr7:72724762-72815601)x3 http://identifiers.org/clinvar/147113 ^@ GRCh38/hg38 14q12(chr14:27330664-27455196)x1 http://identifiers.org/clinvar/147114 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20399345-20672649)x1 http://identifiers.org/clinvar/147115 ^@ GRCh38/hg38 22q11.21(chr22:19758862-19762514)x3 http://identifiers.org/clinvar/147116 ^@ GRCh38/hg38 4q13.2(chr4:68509451-68568203)x3 http://identifiers.org/clinvar/147117 ^@ GRCh38/hg38 4q13.2(chr4:68509451-68568203)x1 http://identifiers.org/clinvar/147118 ^@ GRCh38/hg38 15q26.3(chr15:101694128-101723186)x3 http://identifiers.org/clinvar/147119 ^@ GRCh38/hg38 17q21.31(chr17:46444520-46681549)x1 http://identifiers.org/clinvar/147120 ^@ GRCh38/hg38 2p11.2(chr2:91482333-91624482)x1 http://identifiers.org/clinvar/147121 ^@ GRCh38/hg38 21p11.2(chr21:10336174-10597374)x1 http://identifiers.org/clinvar/147122 ^@ GRCh38/hg38 21q21.1-21.2(chr21:21843375-23953080)x1 http://identifiers.org/clinvar/147123 ^@ GRCh38/hg38 5q13.2(chr5:71090743-71367241)x1 http://identifiers.org/clinvar/147124 ^@ GRCh38/hg38 8p11.22(chr8:39379948-39528352)x1 http://identifiers.org/clinvar/147125 ^@ GRCh38/hg38 8p11.22(chr8:39379948-39528352)x0 http://identifiers.org/clinvar/147126 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35283467-35467582)x3 http://identifiers.org/clinvar/147127 ^@ GRCh38/hg38 22q11.22(chr22:21968759-22220398)x3 http://identifiers.org/clinvar/147128 ^@ GRCh38/hg38 6q22.33(chr6:129591658-129773902)x3 http://identifiers.org/clinvar/147129 ^@ GRCh38/hg38 8p23.2(chr8:3247037-3393407)x1 http://identifiers.org/clinvar/147130 ^@ GRCh38/hg38 1q23.3(chr1:161532018-161567694)x1 http://identifiers.org/clinvar/147131 ^@ GRCh38/hg38 14q11.2(chr14:18907993-19433294)x3 http://identifiers.org/clinvar/147132 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20217873-22301831)x3 http://identifiers.org/clinvar/147133 ^@ GRCh38/hg38 15q13.2(chr15:30197607-30491441)x1 http://identifiers.org/clinvar/147134 ^@ GRCh38/hg38 16p11.2(chr16:33570820-33641934)x3 http://identifiers.org/clinvar/147135 ^@ GRCh38/hg38 18p11.21(chr18:14444783-14511926)x3 http://identifiers.org/clinvar/147136 ^@ GRCh38/hg38 19q13.31(chr19:43185848-43253584)x1 http://identifiers.org/clinvar/147137 ^@ GRCh38/hg38 2p16.2(chr2:52617246-52658362)x1 http://identifiers.org/clinvar/147138 ^@ GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1 http://identifiers.org/clinvar/147139 ^@ GRCh38/hg38 20p13(chr20:1583082-1610532)x3 http://identifiers.org/clinvar/147140 ^@ GRCh38/hg38 3p14.1(chr3:66580588-66617624)x3 http://identifiers.org/clinvar/147141 ^@ GRCh38/hg38 6p25.3(chr6:152664-184808)x1 http://identifiers.org/clinvar/147142 ^@ GRCh38/hg38 7q22.1(chr7:102694873-102719207)x1 http://identifiers.org/clinvar/147143 ^@ GRCh38/hg38 8p23.1(chr8:7471088-7802122)x1 http://identifiers.org/clinvar/147144 ^@ GRCh38/hg38 8q24.22(chr8:131467321-131678781)x3 http://identifiers.org/clinvar/147145 ^@ GRCh38/hg38 Xq13.3(chrX:76032122-76140412)x3 http://identifiers.org/clinvar/147146 ^@ GRCh38/hg38 13q32.1(chr13:95105459-95389895)x1 http://identifiers.org/clinvar/147147 ^@ GRCh38/hg38 14q11.2(chr14:19735319-19952661)x3 http://identifiers.org/clinvar/147148 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20399345-21976567)x1 http://identifiers.org/clinvar/147149 ^@ GRCh38/hg38 17p13.1-12(chr17:10713492-11312542)x3 http://identifiers.org/clinvar/147150 ^@ GRCh38/hg38 17q21.31(chr17:46094551-46291496)x3 http://identifiers.org/clinvar/147151 ^@ GRCh38/hg38 8p23.1(chr8:7311998-7802122)x1 http://identifiers.org/clinvar/147152 ^@ GRCh38/hg38 10q11.22(chr10:46526689-46584622)x1 http://identifiers.org/clinvar/147153 ^@ GRCh38/hg38 12q13.3(chr12:56942513-56980653)x1 http://identifiers.org/clinvar/147154 ^@ GRCh38/hg38 15q11.2(chr15:20924655-22301831)x1 http://identifiers.org/clinvar/147155 ^@ GRCh37/hg19 14q32.33(chr14:106539719-106572277)x0 http://identifiers.org/clinvar/147156 ^@ GRCh38/hg38 16p11.2(chr16:32459334-33495702)x1 http://identifiers.org/clinvar/147157 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25268679-25507547)x1 http://identifiers.org/clinvar/147158 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32669311)x3 http://identifiers.org/clinvar/147159 ^@ GRCh38/hg38 8q24.23(chr8:136681023-136849939)x1 http://identifiers.org/clinvar/147160 ^@ GRCh38/hg38 16p11.1(chr16:35305312-35375014)x3 http://identifiers.org/clinvar/147161 ^@ GRCh38/hg38 7p21.3(chr7:13199896-13287454)x1 http://identifiers.org/clinvar/147162 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20227627-22173882)x1 http://identifiers.org/clinvar/147163 ^@ GRCh38/hg38 16p13.11(chr16:14954924-15022520)x1 http://identifiers.org/clinvar/147164 ^@ GRCh38/hg38 19q13.31(chr19:43187154-43253584)x1 http://identifiers.org/clinvar/147165 ^@ GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1 http://identifiers.org/clinvar/147166 ^@ GRCh38/hg38 21q22.3(chr21:44131144-44348695)x3 http://identifiers.org/clinvar/147167 ^@ GRCh37/hg19 22q11.23(chr22:24328565-24385948)x0 http://identifiers.org/clinvar/147168 ^@ GRCh38/hg38 3p12.3(chr3:78701774-78968186)x1 http://identifiers.org/clinvar/147169 ^@ GRCh38/hg38 7p14.1(chr7:38264846-38306804)x1 http://identifiers.org/clinvar/147170 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1 http://identifiers.org/clinvar/147171 ^@ GRCh38/hg38 7q34(chr7:142750817-142752399)x1 http://identifiers.org/clinvar/147172 ^@ GRCh38/hg38 Xq22.2(chrX:104007008-104050670)x3 http://identifiers.org/clinvar/147173 ^@ GRCh38/hg38 8p11.22(chr8:39401570-39528352)x3 http://identifiers.org/clinvar/147174 ^@ GRCh38/hg38 15q11.2(chr15:20924655-22270775)x1 http://identifiers.org/clinvar/147175 ^@ GRCh38/hg38 16p11.2(chr16:31974836-32626558)x1 http://identifiers.org/clinvar/147176 ^@ GRCh38/hg38 16p11.2(chr16:32878714-33663064)x1 http://identifiers.org/clinvar/147177 ^@ GRCh38/hg38 19q13.31(chr19:43187154-43241966)x1 http://identifiers.org/clinvar/147178 ^@ GRCh38/hg38 21p11.2(chr21:10478754-10648241)x1 http://identifiers.org/clinvar/147179 ^@ GRCh38/hg38 6p25.3(chr6:259345-350238)x1 http://identifiers.org/clinvar/147180 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32554123)x3 http://identifiers.org/clinvar/147181 ^@ GRCh38/hg38 11q11(chr11:55600886-55671230)x3 http://identifiers.org/clinvar/147182 ^@ GRCh38/hg38 14q11.2(chr14:18907993-19415424)x1 http://identifiers.org/clinvar/147183 ^@ GRCh38/hg38 14q11.2(chr14:19870613-19952661)x1 http://identifiers.org/clinvar/147184 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20286893-22290649)x1 http://identifiers.org/clinvar/147185 ^@ GRCh38/hg38 2p16.3(chr2:52523635-52554302)x1 http://identifiers.org/clinvar/147186 ^@ GRCh38/hg38 22q11.22(chr22:21994545-22202310)x3 http://identifiers.org/clinvar/147187 ^@ GRCh38/hg38 6p21.32(chr6:32482945-32597031)x3 http://identifiers.org/clinvar/147188 ^@ GRCh38/hg38 9p21.1(chr9:31567896-31642032)x1 http://identifiers.org/clinvar/147189 ^@ GRCh38/hg38 9p11.1(chr9:42334696-42711685)x1 http://identifiers.org/clinvar/147190 ^@ GRCh38/hg38 1p21.1(chr1:103618379-103668405)x3 http://identifiers.org/clinvar/147191 ^@ GRCh38/hg38 14q11.2(chr14:18600315-18658127)x1 http://identifiers.org/clinvar/147192 ^@ GRCh38/hg38 14q11.2(chr14:19193116-19344465)x1 http://identifiers.org/clinvar/147193 ^@ GRCh38/hg38 14q11.2(chr14:19628843-19678394)x1 http://identifiers.org/clinvar/147194 ^@ GRCh38/hg38 16p11.1(chr16:35390780-35513188)x3 http://identifiers.org/clinvar/147195 ^@ GRCh37/hg19 17q12(chr17:34437505-34611377)x1 http://identifiers.org/clinvar/147196 ^@ GRCh38/hg38 2q13(chr2:110025681-110576905)x1 http://identifiers.org/clinvar/147197 ^@ GRCh38/hg38 3q26.1(chr3:162796776-162866788)x3 http://identifiers.org/clinvar/147198 ^@ GRCh38/hg38 5p15.33(chr5:795659-821793)x1 http://identifiers.org/clinvar/147199 ^@ GRCh38/hg38 5q13.2(chr5:71074103-71361891)x1 http://identifiers.org/clinvar/147200 ^@ GRCh38/hg38 5q21.3(chr5:105137582-105247560)x1 http://identifiers.org/clinvar/147201 ^@ GRCh38/hg38 7q34(chr7:142747721-142752399)x1 http://identifiers.org/clinvar/147202 ^@ GRCh38/hg38 1p36.13(chr1:16761932-16779982)x1 http://identifiers.org/clinvar/147203 ^@ GRCh38/hg38 10q11.22(chr10:46176386-46283880)x3 http://identifiers.org/clinvar/147204 ^@ GRCh38/hg38 15q11.2(chr15:21581401-22301831)x3 http://identifiers.org/clinvar/147205 ^@ GRCh38/hg38 16p11.2(chr16:31894396-33495702)x1 http://identifiers.org/clinvar/147206 ^@ GRCh38/hg38 16p11.2(chr16:33641934-33851861)x1 http://identifiers.org/clinvar/147207 ^@ GRCh38/hg38 16q22.1(chr16:68937032-69254118)x3 http://identifiers.org/clinvar/147208 ^@ GRCh38/hg38 4p16.3(chr4:45916-68293)x1 http://identifiers.org/clinvar/147209 ^@ GRCh38/hg38 6p25.3(chr6:259345-293592)x1 http://identifiers.org/clinvar/147210 ^@ GRCh38/hg38 7q34(chr7:142750915-142752399)x1 http://identifiers.org/clinvar/147211 ^@ GRCh38/hg38 8p23.1(chr8:7311998-8222368)x3 http://identifiers.org/clinvar/147212 ^@ GRCh38/hg38 8p23.1(chr8:7311998-8222368)x1 http://identifiers.org/clinvar/147213 ^@ GRCh38/hg38 Xq21.33(chrX:97519577-97568353)x3 http://identifiers.org/clinvar/147214 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/147215 ^@ GRCh38/hg38 21p11.2(chr21:10465006-10613466)x1 http://identifiers.org/clinvar/147216 ^@ GRCh38/hg38 7p22.3(chr7:2399677-2440907)x1 http://identifiers.org/clinvar/147217 ^@ GRCh38/hg38 10q26.3(chr10:133445172-133563998)x3 http://identifiers.org/clinvar/147218 ^@ GRCh38/hg38 17q21.31(chr17:46094551-46247855)x3 http://identifiers.org/clinvar/147219 ^@ GRCh38/hg38 19q13.31(chr19:43204810-43253584)x1 http://identifiers.org/clinvar/147220 ^@ GRCh38/hg38 2q37.3(chr2:241910444-242110184)x1 http://identifiers.org/clinvar/147221 ^@ GRCh38/hg38 5p15.33(chr5:692766-772959)x1 http://identifiers.org/clinvar/147222 ^@ GRCh38/hg38 3q26.1(chr3:162866788-162901324)x1 http://identifiers.org/clinvar/147223 ^@ GRCh38/hg38 15q11.2(chr15:20924655-22030675)x3 http://identifiers.org/clinvar/147224 ^@ GRCh38/hg38 16q22.1(chr16:70114858-70162852)x3 http://identifiers.org/clinvar/147225 ^@ GRCh38/hg38 19p12(chr19:20458620-20536170)x1 http://identifiers.org/clinvar/147226 ^@ GRCh38/hg38 2q37.3(chr2:241947704-241968354)x3 http://identifiers.org/clinvar/147227 ^@ GRCh37/hg19 22q11.21(chr22:18661748-18813961)x1 http://identifiers.org/clinvar/147228 ^@ GRCh38/hg38 6p22.1(chr6:29887122-29928906)x1 http://identifiers.org/clinvar/147229 ^@ GRCh38/hg38 7q31.1(chr7:111587008-111693874)x1 http://identifiers.org/clinvar/147230 ^@ GRCh37/hg19 9p11.2(chr9:44729490-45469360)x1 http://identifiers.org/clinvar/147231 ^@ GRCh38/hg38 1q44(chr1:248564628-248628926)x1 http://identifiers.org/clinvar/147232 ^@ GRCh38/hg38 14q11.2(chr14:19882763-19929543)x1 http://identifiers.org/clinvar/147233 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20257350-22308242)x3 http://identifiers.org/clinvar/147234 ^@ GRCh38/hg38 15q11.2(chr15:24436240-24493062)x1 http://identifiers.org/clinvar/147235 ^@ GRCh38/hg38 8p23.1(chr8:7471088-7806884)x1 http://identifiers.org/clinvar/147236 ^@ GRCh38/hg38 Xp22.2(chrX:14338791-14409953)x3 http://identifiers.org/clinvar/147237 ^@ GRCh38/hg38 1p36.11(chr1:25282988-25321796)x1 http://identifiers.org/clinvar/147238 ^@ GRCh38/hg38 1p21.1(chr1:103564937-103621159)x3 http://identifiers.org/clinvar/147239 ^@ GRCh38/hg38 14q11.2(chr14:19730807-19997817)x3 http://identifiers.org/clinvar/147240 ^@ GRCh38/hg38 15q11.2(chr15:20937626-21067076)x3 http://identifiers.org/clinvar/147241 ^@ GRCh38/hg38 16p13.3(chr16:22798-32437)x1 http://identifiers.org/clinvar/147242 ^@ GRCh38/hg38 16p11.2(chr16:32459334-32626558)x1 http://identifiers.org/clinvar/147243 ^@ GRCh38/hg38 2q37.3(chr2:241914466-242086273)x1 http://identifiers.org/clinvar/147244 ^@ GRCh38/hg38 8p23.1(chr8:7471088-7834408)x1 http://identifiers.org/clinvar/147245 ^@ GRCh38/hg38 4q13.2(chr4:68526857-68596407)x3 http://identifiers.org/clinvar/147246 ^@ GRCh38/hg38 6p25.3(chr6:255380-366778)x1 http://identifiers.org/clinvar/147247 ^@ GRCh38/hg38 8p23.1(chr8:7311998-7921714)x3 http://identifiers.org/clinvar/147248 ^@ GRCh38/hg38 Xp22.33(chrX:27606-255211)x3 http://identifiers.org/clinvar/147249 ^@ GRCh38/hg38 Xp22.33(chrX:1817227-1823305)x3 http://identifiers.org/clinvar/147250 ^@ GRCh38/hg38 1p36.13(chr1:16724714-16905292)x3 http://identifiers.org/clinvar/147251 ^@ GRCh38/hg38 1q21.1(chr1:143546375-143780462)x1 http://identifiers.org/clinvar/147252 ^@ GRCh38/hg38 10q26.3(chr10:133440563-133558959)x3 http://identifiers.org/clinvar/147253 ^@ GRCh38/hg38 13q31.1(chr13:81108462-81459132)x1 http://identifiers.org/clinvar/147254 ^@ GRCh38/hg38 16p11.2(chr16:32475528-33983242)x3 http://identifiers.org/clinvar/147255 ^@ GRCh38/hg38 22q11.23(chr22:25330413-25403585)x3 http://identifiers.org/clinvar/147256 ^@ GRCh38/hg38 6p25.3(chr6:259345-296704)x3 http://identifiers.org/clinvar/147257 ^@ GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 http://identifiers.org/clinvar/147258 ^@ GRCh38/hg38 16p12.2(chr16:21588366-21826230)x3 http://identifiers.org/clinvar/147259 ^@ GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3 http://identifiers.org/clinvar/147260 ^@ GRCh38/hg38 15q26.3(chr15:101474129-101716545)x3 http://identifiers.org/clinvar/147261 ^@ GRCh38/hg38 4q28.3(chr4:137806589-138242162)x1 http://identifiers.org/clinvar/147262 ^@ GRCh38/hg38 1p31.1(chr1:71658412-71776282)x1 http://identifiers.org/clinvar/147263 ^@ GRCh38/hg38 1q21.3(chr1:152566461-152613805)x1 http://identifiers.org/clinvar/147264 ^@ GRCh38/hg38 15q26.3(chr15:101170474-101474188)x3 http://identifiers.org/clinvar/147265 ^@ GRCh38/hg38 5q11.2(chr5:53796866-53988736)x1 http://identifiers.org/clinvar/147266 ^@ GRCh38/hg38 10q26.3(chr10:133538868-133558988)x3 http://identifiers.org/clinvar/147267 ^@ GRCh38/hg38 Xq22.2(chrX:103965839-103968514)x2 http://identifiers.org/clinvar/147268 ^@ GRCh38/hg38 2q32.1(chr2:182195003-182635313)x3 http://identifiers.org/clinvar/147269 ^@ GRCh38/hg38 15q26.3(chr15:101500777-101723215)x3 http://identifiers.org/clinvar/147270 ^@ GRCh38/hg38 4q28.2(chr4:128864528-128936837)x3 http://identifiers.org/clinvar/147272 ^@ GRCh38/hg38 8p11.22(chr8:39401375-39528639)x0 http://identifiers.org/clinvar/147273 ^@ GRCh38/hg38 2q32.1(chr2:188383776-188489768)x1 http://identifiers.org/clinvar/147274 ^@ GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 http://identifiers.org/clinvar/147275 ^@ GRCh38/hg38 17p13.3(chr17:1799751-1955957)x1 http://identifiers.org/clinvar/147276 ^@ GRCh38/hg38 1q44(chr1:247798967-248521608)x3 http://identifiers.org/clinvar/147277 ^@ GRCh38/hg38 2p11.2(chr2:87098178-87705899)x3 http://identifiers.org/clinvar/147279 ^@ GRCh38/hg38 10q26.11(chr10:118330136-118685873)x3 http://identifiers.org/clinvar/147280 ^@ GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1 http://identifiers.org/clinvar/147281 ^@ GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1 http://identifiers.org/clinvar/147283 ^@ GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 http://identifiers.org/clinvar/147284 ^@ GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1 http://identifiers.org/clinvar/147285 ^@ GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 http://identifiers.org/clinvar/147286 ^@ GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 http://identifiers.org/clinvar/147287 ^@ GRCh38/hg38 11p12(chr11:40318065-40630731)x1 http://identifiers.org/clinvar/147288 ^@ GRCh38/hg38 15q13.1(chr15:28446255-28785371)x3 http://identifiers.org/clinvar/147289 ^@ GRCh38/hg38 15q11.2(chr15:24186506-24493092)x1 http://identifiers.org/clinvar/147290 ^@ GRCh38/hg38 6p25.3(chr6:163083-307998)x3 http://identifiers.org/clinvar/147291 ^@ GRCh38/hg38 7q11.22(chr7:72444332-72630810)x3 http://identifiers.org/clinvar/147292 ^@ GRCh38/hg38 5p15.33(chr5:710379-820360)x3 http://identifiers.org/clinvar/147293 ^@ GRCh38/hg38 6p21.2(chr6:39302297-39429561)x3 http://identifiers.org/clinvar/147294 ^@ GRCh38/hg38 1p36.13(chr1:16637078-16727421)x1 http://identifiers.org/clinvar/147295 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133620674)x3 http://identifiers.org/clinvar/147298 ^@ GRCh38/hg38 7p12.3(chr7:48274160-48442873)x1 http://identifiers.org/clinvar/147299 ^@ GRCh38/hg38 8p11.21-11.1(chr8:42900304-43673207)x3 http://identifiers.org/clinvar/147303 ^@ GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 http://identifiers.org/clinvar/147308 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 http://identifiers.org/clinvar/147309 ^@ GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 http://identifiers.org/clinvar/147312 ^@ GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1 http://identifiers.org/clinvar/147313 ^@ GRCh38/hg38 6q25.3(chr6:156353632-157449782)x1 http://identifiers.org/clinvar/147314 ^@ GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3 http://identifiers.org/clinvar/147315 ^@ GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1 http://identifiers.org/clinvar/147316 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1 http://identifiers.org/clinvar/147317 ^@ GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1 http://identifiers.org/clinvar/147318 ^@ GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 http://identifiers.org/clinvar/147320 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/147321 ^@ GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 http://identifiers.org/clinvar/147323 ^@ GRCh38/hg38 13q12.3(chr13:28566995-29387932)x3 http://identifiers.org/clinvar/147324 ^@ GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1 http://identifiers.org/clinvar/147325 ^@ GRCh38/hg38 7p12.3-12.2(chr7:48876905-49055425)x1 http://identifiers.org/clinvar/147326 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3 http://identifiers.org/clinvar/147327 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x3 http://identifiers.org/clinvar/147329 ^@ GRCh38/hg38 11p13(chr11:32986646-33573778)x3 http://identifiers.org/clinvar/147330 ^@ GRCh38/hg38 Xp22.33(chrX:2751384-3349640)x3 http://identifiers.org/clinvar/147331 ^@ GRCh38/hg38 6q26(chr6:162233059-162820011)x3 http://identifiers.org/clinvar/147332 ^@ GRCh38/hg38 16q24.2(chr16:87223779-87440975)x1 http://identifiers.org/clinvar/147336 ^@ GRCh38/hg38 13q14.11(chr13:42703535-43413099)x4 http://identifiers.org/clinvar/147337 ^@ GRCh38/hg38 7q32.2(chr7:129823107-129976785)x1 http://identifiers.org/clinvar/147339 ^@ GRCh38/hg38 16p13.11(chr16:15457445-16633564)x3 http://identifiers.org/clinvar/147340 ^@ GRCh38/hg38 22q11.21(chr22:20354600-21207225)x3 http://identifiers.org/clinvar/147341 ^@ GRCh38/hg38 18q12.2-12.3(chr18:39215213-41998951)x1 http://identifiers.org/clinvar/147342 ^@ GRCh38/hg38 Yq12(chrY:56968643-57098882)x0 http://identifiers.org/clinvar/147343 ^@ GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1 http://identifiers.org/clinvar/147345 ^@ GRCh38/hg38 8q23.3(chr8:111807430-112789029)x3 http://identifiers.org/clinvar/147347 ^@ GRCh38/hg38 8q11.1(chr8:46031334-46709283)x3 http://identifiers.org/clinvar/147349 ^@ GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3 http://identifiers.org/clinvar/147350 ^@ GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1 http://identifiers.org/clinvar/147351 ^@ GRCh38/hg38 Xp22.31(chrX:7666592-8706315)x3 http://identifiers.org/clinvar/147352 ^@ GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 http://identifiers.org/clinvar/147353 ^@ GRCh38/hg38 Yq12(chrY:56992525-57208726)x0 http://identifiers.org/clinvar/147354 ^@ GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 http://identifiers.org/clinvar/147355 ^@ GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 http://identifiers.org/clinvar/147356 ^@ GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 http://identifiers.org/clinvar/147357 ^@ GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 http://identifiers.org/clinvar/147358 ^@ GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 http://identifiers.org/clinvar/147362 ^@ GRCh38/hg38 2p11.2(chr2:83448114-83990562)x4 http://identifiers.org/clinvar/147363 ^@ GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3 http://identifiers.org/clinvar/147364 ^@ GRCh38/hg38 1p36.13(chr1:17742890-18305739)x3 http://identifiers.org/clinvar/147365 ^@ GRCh38/hg38 16q21(chr16:63376845-64619190)x1 http://identifiers.org/clinvar/147366 ^@ GRCh38/hg38 10q22.3(chr10:79882162-80202422)x1 http://identifiers.org/clinvar/147367 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1 http://identifiers.org/clinvar/147368 ^@ GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 http://identifiers.org/clinvar/147369 ^@ GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 http://identifiers.org/clinvar/147371 ^@ GRCh38/hg38 9p23(chr9:10126221-12031786)x3 http://identifiers.org/clinvar/147374 ^@ GRCh38/hg38 2p23.1(chr2:29907153-30845898)x3 http://identifiers.org/clinvar/147377 ^@ GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 http://identifiers.org/clinvar/147379 ^@ GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1 http://identifiers.org/clinvar/147381 ^@ GRCh38/hg38 10p15.3-15.2(chr10:2496252-3191229)x3 http://identifiers.org/clinvar/147382 ^@ GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1 http://identifiers.org/clinvar/147383 ^@ GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 http://identifiers.org/clinvar/147384 ^@ GRCh38/hg38 Xq22.1(chrX:99844924-100130853)x1 http://identifiers.org/clinvar/147385 ^@ GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1 http://identifiers.org/clinvar/147386 ^@ GRCh38/hg38 Xq23(chrX:109505229-110588158)x3 http://identifiers.org/clinvar/147387 ^@ GRCh38/hg38 7p21.1(chr7:19178547-20733512)x3 http://identifiers.org/clinvar/147389 ^@ GRCh38/hg38 3q29(chr3:195147600-195711857)x3 http://identifiers.org/clinvar/147390 ^@ GRCh38/hg38 14q24.2(chr14:70752460-72490693)x3 http://identifiers.org/clinvar/147391 ^@ GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3 http://identifiers.org/clinvar/147393 ^@ GRCh38/hg38 16p12.3(chr16:16861505-17368530)x3 http://identifiers.org/clinvar/147394 ^@ GRCh38/hg38 1p36.32(chr1:3319336-3614487)x1 http://identifiers.org/clinvar/147395 ^@ GRCh38/hg38 18p11.32(chr18:148963-2313458)x1 http://identifiers.org/clinvar/147396 ^@ GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 http://identifiers.org/clinvar/147397 ^@ GRCh38/hg38 18q23(chr18:79922576-80252149)x1 http://identifiers.org/clinvar/147398 ^@ GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 http://identifiers.org/clinvar/147399 ^@ GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1 http://identifiers.org/clinvar/147400 ^@ GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 http://identifiers.org/clinvar/147401 ^@ GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1 http://identifiers.org/clinvar/147402 ^@ GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 http://identifiers.org/clinvar/147404 ^@ GRCh38/hg38 4q34.2(chr4:175429600-175846053)x1 http://identifiers.org/clinvar/147405 ^@ GRCh38/hg38 Xp22.31(chrX:7227318-7259460)x0 http://identifiers.org/clinvar/147406 ^@ GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1 http://identifiers.org/clinvar/147407 ^@ GRCh38/hg38 Xp22.31(chrX:8585230-8939501)x2 http://identifiers.org/clinvar/147408 ^@ GRCh38/hg38 Xp22.12(chrX:20240043-20795704)x1 http://identifiers.org/clinvar/147411 ^@ GRCh38/hg38 12q21.31(chr12:85253355-85319830)x1 http://identifiers.org/clinvar/147412 ^@ GRCh38/hg38 7q31.1(chr7:111889459-112144314)x1 http://identifiers.org/clinvar/147413 ^@ GRCh38/hg38 1p32.1-31.3(chr1:60319415-60902100)x3 http://identifiers.org/clinvar/147414 ^@ GRCh38/hg38 15q26.3(chr15:98976591-99456909)x4 http://identifiers.org/clinvar/147416 ^@ GRCh38/hg38 6q26(chr6:162120320-162629371)x3 http://identifiers.org/clinvar/147417 ^@ GRCh38/hg38 9q34.2-34.3(chr9:134492275-135456038)x3 http://identifiers.org/clinvar/147418 ^@ GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3 http://identifiers.org/clinvar/147419 ^@ GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 http://identifiers.org/clinvar/147420 ^@ GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 http://identifiers.org/clinvar/147421 ^@ GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1 http://identifiers.org/clinvar/147423 ^@ GRCh38/hg38 2q32.1(chr2:187224421-187420039)x1 http://identifiers.org/clinvar/147424 ^@ GRCh38/hg38 7p21.1(chr7:17214494-18000678)x3 http://identifiers.org/clinvar/147425 ^@ GRCh38/hg38 3p26.3(chr3:2220949-2754945)x1 http://identifiers.org/clinvar/147426 ^@ GRCh38/hg38 8p21.2(chr8:23757449-24517207)x3 http://identifiers.org/clinvar/147427 ^@ GRCh38/hg38 10q23.1(chr10:83303800-84989052)x3 http://identifiers.org/clinvar/147428 ^@ GRCh38/hg38 12p11.1(chr12:33870396-34603274)x3 http://identifiers.org/clinvar/147429 ^@ GRCh38/hg38 9p21.3(chr9:22416550-23232148)x3 http://identifiers.org/clinvar/147430 ^@ GRCh38/hg38 5q31.2(chr5:137117353-137434323)x1 http://identifiers.org/clinvar/147433 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1 http://identifiers.org/clinvar/147434 ^@ GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1 http://identifiers.org/clinvar/147435 ^@ GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1 http://identifiers.org/clinvar/147436 ^@ GRCh38/hg38 13q34(chr13:109862835-110921746)x3 http://identifiers.org/clinvar/147437 ^@ GRCh38/hg38 22q13.33(chr22:50698898-50727249)x1 http://identifiers.org/clinvar/147438 ^@ GRCh38/hg38 Xq28(chrX:154022066-154044684)x1 http://identifiers.org/clinvar/147442 ^@ GRCh38/hg38 3p26.1-25.3(chr3:7401136-8485500)x3 http://identifiers.org/clinvar/147443 ^@ GRCh38/hg38 4q31.21(chr4:143667454-143921494)x1 http://identifiers.org/clinvar/147444 ^@ GRCh38/hg38 Yq11.222(chrY:18664321-19478314)x2 http://identifiers.org/clinvar/147445 ^@ GRCh38/hg38 9p24.3(chr9:204193-254712)x1 http://identifiers.org/clinvar/147446 ^@ GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1 http://identifiers.org/clinvar/147447 ^@ GRCh38/hg38 Xp22.13(chrX:18644112-18804034)x3 http://identifiers.org/clinvar/147448 ^@ GRCh38/hg38 Xp22.13(chrX:18644112-18804034)x2 http://identifiers.org/clinvar/147449 ^@ GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 http://identifiers.org/clinvar/147452 ^@ GRCh38/hg38 9p24.3(chr9:314969-910448)x4 http://identifiers.org/clinvar/147453 ^@ GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3 http://identifiers.org/clinvar/147455 ^@ GRCh38/hg38 4p15.1(chr4:31766817-33173422)x1 http://identifiers.org/clinvar/147456 ^@ GRCh38/hg38 Xq21.1(chrX:80659978-80734149)x2 http://identifiers.org/clinvar/147458 ^@ GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3 http://identifiers.org/clinvar/147459 ^@ GRCh38/hg38 6q23.1(chr6:130169549-130850911)x3 http://identifiers.org/clinvar/147460 ^@ GRCh38/hg38 5p15.2(chr5:11115894-11363804)x3 http://identifiers.org/clinvar/147461 ^@ GRCh38/hg38 18p11.32(chr18:148963-2563898)x1 http://identifiers.org/clinvar/147462 ^@ GRCh38/hg38 15q13.3(chr15:31680443-32217725)x3 http://identifiers.org/clinvar/147464 ^@ GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 http://identifiers.org/clinvar/147466 ^@ GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 http://identifiers.org/clinvar/147467 ^@ GRCh38/hg38 2q31.1(chr2:176090995-176108288)x3 http://identifiers.org/clinvar/147469 ^@ GRCh38/hg38 3p24.3-24.2(chr3:23404410-24270481)x3 http://identifiers.org/clinvar/147470 ^@ GRCh38/hg38 8q21.3(chr8:88504851-89690223)x3 http://identifiers.org/clinvar/147471 ^@ GRCh38/hg38 5p15.31(chr5:7701344-8275266)x3 http://identifiers.org/clinvar/147474 ^@ GRCh38/hg38 Xq21.33(chrX:96032620-96710658)x2 http://identifiers.org/clinvar/147475 ^@ GRCh38/hg38 15q25.3(chr15:86557641-87090695)x3 http://identifiers.org/clinvar/147476 ^@ GRCh38/hg38 11p12(chr11:41409183-42226602)x3 http://identifiers.org/clinvar/147481 ^@ GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 http://identifiers.org/clinvar/147482 ^@ GRCh38/hg38 4p12(chr4:45692658-46058566)x1 http://identifiers.org/clinvar/147484 ^@ GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3 http://identifiers.org/clinvar/147485 ^@ GRCh38/hg38 1p12(chr1:119816901-119977655)x3 http://identifiers.org/clinvar/147487 ^@ GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 http://identifiers.org/clinvar/147488 ^@ GRCh38/hg38 9p24.3(chr9:204193-1592365)x1 http://identifiers.org/clinvar/147489 ^@ GRCh38/hg38 12p11.1(chr12:33669250-34603274)x3 http://identifiers.org/clinvar/147490 ^@ GRCh38/hg38 8q12.3(chr8:64079639-64886541)x1 http://identifiers.org/clinvar/147491 ^@ GRCh38/hg38 3p24.3(chr3:21346096-21961801)x3 http://identifiers.org/clinvar/147492 ^@ GRCh38/hg38 1q42.13(chr1:227127485-227859407)x1 http://identifiers.org/clinvar/147493 ^@ GRCh38/hg38 7p21.3-21.2(chr7:13262814-15234164)x3 http://identifiers.org/clinvar/147494 ^@ GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1 http://identifiers.org/clinvar/147495 ^@ GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 http://identifiers.org/clinvar/147496 ^@ GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1 http://identifiers.org/clinvar/147497 ^@ GRCh38/hg38 17p13.3(chr17:198748-342968)x1 http://identifiers.org/clinvar/147498 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 http://identifiers.org/clinvar/147500 ^@ GRCh38/hg38 5q32(chr5:145197355-148541511)x1 http://identifiers.org/clinvar/147501 ^@ GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 http://identifiers.org/clinvar/147502 ^@ GRCh38/hg38 18q12.3(chr18:44401938-45869924)x1 http://identifiers.org/clinvar/147504 ^@ GRCh38/hg38 1p21.3-21.2(chr1:99110744-99679244)x3 http://identifiers.org/clinvar/147505 ^@ GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 http://identifiers.org/clinvar/147506 ^@ GRCh38/hg38 3p22.1(chr3:41416004-41768879)x1 http://identifiers.org/clinvar/147507 ^@ GRCh38/hg38 1q42.13(chr1:229701073-230284168)x3 http://identifiers.org/clinvar/147509 ^@ GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 http://identifiers.org/clinvar/147510 ^@ GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 http://identifiers.org/clinvar/147511 ^@ GRCh38/hg38 10p14(chr10:7290341-7680744)x1 http://identifiers.org/clinvar/147513 ^@ GRCh38/hg38 4q21.1-21.21(chr4:77864035-78516249)x3 http://identifiers.org/clinvar/147514 ^@ GRCh38/hg38 7p22.3(chr7:791215-1993065)x3 http://identifiers.org/clinvar/147515 ^@ GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3 http://identifiers.org/clinvar/147517 ^@ GRCh38/hg38 8q24.12(chr8:119336700-119893839)x3 http://identifiers.org/clinvar/147518 ^@ GRCh38/hg38 3p26.1-25.3(chr3:8038727-8668286)x3 http://identifiers.org/clinvar/147525 ^@ GRCh38/hg38 3p12.1-11.2(chr3:86917979-87234450)x1 http://identifiers.org/clinvar/147527 ^@ GRCh38/hg38 10q24.32(chr10:101599084-101676484)x3 http://identifiers.org/clinvar/147528 ^@ GRCh38/hg38 3p14.2(chr3:60611688-61007410)x1 http://identifiers.org/clinvar/147530 ^@ GRCh38/hg38 12q24.32(chr12:127802658-128663624)x3 http://identifiers.org/clinvar/147531 ^@ GRCh38/hg38 12q24.32(chr12:126587447-127900558)x3 http://identifiers.org/clinvar/147534 ^@ GRCh38/hg38 2p13.1-12(chr2:74690966-74875121)x3 http://identifiers.org/clinvar/147536 ^@ GRCh38/hg38 7q36.3(chr7:155807064-155807664)x3 http://identifiers.org/clinvar/147537 ^@ GRCh38/hg38 7q31.1(chr7:111350812-111554600)x1 http://identifiers.org/clinvar/147538 ^@ GRCh38/hg38 11q13.2(chr11:67610409-67611017)x3 http://identifiers.org/clinvar/147539 ^@ GRCh38/hg38 16p11.2(chr16:32289420-33970667)x3 http://identifiers.org/clinvar/147540 ^@ GRCh38/hg38 16p11.2(chr16:32289420-33970667)x1 http://identifiers.org/clinvar/147541 ^@ GRCh38/hg38 16p13.2(chr16:8007817-8241281)x1 http://identifiers.org/clinvar/147542 ^@ GRCh38/hg38 7p22.3(chr7:54185-120272)x3 http://identifiers.org/clinvar/147543 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247671-35448077)x3 http://identifiers.org/clinvar/147544 ^@ GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 http://identifiers.org/clinvar/147545 ^@ GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 http://identifiers.org/clinvar/147546 ^@ GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 http://identifiers.org/clinvar/147547 ^@ GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 http://identifiers.org/clinvar/147548 ^@ GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 http://identifiers.org/clinvar/147550 ^@ GRCh38/hg38 16q24.2(chr16:88440499-88524205)x3 http://identifiers.org/clinvar/147551 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147335698-147909284)x3 http://identifiers.org/clinvar/147552 ^@ GRCh38/hg38 5p13.2(chr5:37054860-37586108)x3 http://identifiers.org/clinvar/147553 ^@ GRCh38/hg38 1q23.2(chr1:160059626-160136196)x3 http://identifiers.org/clinvar/147554 ^@ GRCh38/hg38 1q23.2(chr1:160059626-160136196)x1 http://identifiers.org/clinvar/147555 ^@ GRCh38/hg38 1q31.3(chr1:196776934-196828033)x3 http://identifiers.org/clinvar/147557 ^@ GRCh38/hg38 14q11.2(chr14:22229069-22495939)x1 http://identifiers.org/clinvar/147558 ^@ GRCh38/hg38 7q34(chr7:142355688-142553299)x1 http://identifiers.org/clinvar/147559 ^@ GRCh38/hg38 13q12.13(chr13:26842357-27067092)x3 http://identifiers.org/clinvar/147560 ^@ GRCh38/hg38 22q13.1(chr22:38957661-38984034)x1 http://identifiers.org/clinvar/147561 ^@ GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 http://identifiers.org/clinvar/147562 ^@ GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 http://identifiers.org/clinvar/147563 ^@ GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 http://identifiers.org/clinvar/147564 ^@ GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3 http://identifiers.org/clinvar/147565 ^@ GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 http://identifiers.org/clinvar/147566 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 http://identifiers.org/clinvar/147567 ^@ GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1 http://identifiers.org/clinvar/147568 ^@ GRCh38/hg38 9p22.2-22.1(chr9:17502887-18681091)x3 http://identifiers.org/clinvar/147569 ^@ GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1 http://identifiers.org/clinvar/147570 ^@ GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 http://identifiers.org/clinvar/147571 ^@ GRCh37/hg19 1q21.1(chr1:144451745-144524956)x1 http://identifiers.org/clinvar/147572 ^@ GRCh37/hg19 1q21.1(chr1:144451745-144524956)x3 http://identifiers.org/clinvar/147573 ^@ GRCh38/hg38 1q31.3(chr1:196776934-196914268)x1 http://identifiers.org/clinvar/147574 ^@ GRCh38/hg38 Xq13.3(chrX:75140475-75296271)x2 http://identifiers.org/clinvar/147575 ^@ GRCh38/hg38 7q34(chr7:142355688-142605368)x1 http://identifiers.org/clinvar/147576 ^@ GRCh38/hg38 Xp22.2(chrX:11623252-11663811)x2 http://identifiers.org/clinvar/147577 ^@ GRCh38/hg38 7q34(chr7:142416934-142605368)x1 http://identifiers.org/clinvar/147578 ^@ GRCh38/hg38 6p22.1(chr6:28669195-28873863)x3 http://identifiers.org/clinvar/147580 ^@ GRCh38/hg38 15q11.2(chr15:22787972-23066575)x1 http://identifiers.org/clinvar/147581 ^@ GRCh38/hg38 1p21.1(chr1:103549695-104099415)x1 http://identifiers.org/clinvar/147582 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1 http://identifiers.org/clinvar/147583 ^@ GRCh38/hg38 2p25.3(chr2:39193-1542734)x1 http://identifiers.org/clinvar/147584 ^@ GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3 http://identifiers.org/clinvar/147585 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 http://identifiers.org/clinvar/147586 ^@ GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1 http://identifiers.org/clinvar/147587 ^@ GRCh38/hg38 Xq28(chrX:151159662-152145800)x2 http://identifiers.org/clinvar/147588 ^@ GRCh38/hg38 Xp22.31(chrX:6633114-8064079)x0 http://identifiers.org/clinvar/147589 ^@ GRCh38/hg38 Xq28(chrX:152371062-152569688)x0 http://identifiers.org/clinvar/147590 ^@ GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 http://identifiers.org/clinvar/147591 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 http://identifiers.org/clinvar/147592 ^@ GRCh38/hg38 17p11.2(chr17:21416753-21598663)x3 http://identifiers.org/clinvar/147593 ^@ GRCh38/hg38 10q26.3(chr10:133577759-133629910)x3 http://identifiers.org/clinvar/147594 ^@ GRCh38/hg38 6q27(chr6:168018868-168256239)x3 http://identifiers.org/clinvar/147596 ^@ GRCh38/hg38 11p15.4(chr11:7691246-7796490)x1 http://identifiers.org/clinvar/147597 ^@ GRCh38/hg38 19p13.11(chr19:16892429-16926210)x1 http://identifiers.org/clinvar/147598 ^@ GRCh38/hg38 5p13.3(chr5:32110628-32149617)x3 http://identifiers.org/clinvar/147599 ^@ GRCh38/hg38 11p15.4(chr11:7795944-7872826)x1 http://identifiers.org/clinvar/147600 ^@ GRCh38/hg38 15q26.1(chr15:91853990-92049731)x3 http://identifiers.org/clinvar/147601 ^@ GRCh38/hg38 11p15.4(chr11:7665298-7796490)x1 http://identifiers.org/clinvar/147602 ^@ GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 http://identifiers.org/clinvar/147603 ^@ GRCh38/hg38 17p13.3(chr17:445331-823474)x3 http://identifiers.org/clinvar/147604 ^@ GRCh38/hg38 17p13.3(chr17:333871-880361)x3 http://identifiers.org/clinvar/147605 ^@ GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1 http://identifiers.org/clinvar/147606 ^@ GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3 http://identifiers.org/clinvar/147607 ^@ GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 http://identifiers.org/clinvar/147608 ^@ GRCh38/hg38 18q23(chr18:75424051-80224243)x1 http://identifiers.org/clinvar/147609 ^@ GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 http://identifiers.org/clinvar/147610 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 http://identifiers.org/clinvar/147611 ^@ GRCh38/hg38 10p11.21-11.1(chr10:37951330-38067080)x1 http://identifiers.org/clinvar/147612 ^@ GRCh38/hg38 5q21.1(chr5:102458385-102498538)x1 http://identifiers.org/clinvar/147613 ^@ GRCh38/hg38 19q13.41(chr19:51865544-52113443)x3 http://identifiers.org/clinvar/147614 ^@ GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3 http://identifiers.org/clinvar/147615 ^@ GRCh38/hg38 1p36.13(chr1:16487877-16778041)x3 http://identifiers.org/clinvar/147616 ^@ GRCh38/hg38 1p36.13(chr1:16487877-16778041)x1 http://identifiers.org/clinvar/147618 ^@ GRCh37/hg19 1q21.1(chr1:143652719-143771002)x1 http://identifiers.org/clinvar/147619 ^@ GRCh38/hg38 14q11.2(chr14:20289246-20418076)x3 http://identifiers.org/clinvar/147621 ^@ GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 http://identifiers.org/clinvar/147622 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 http://identifiers.org/clinvar/147623 ^@ GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 http://identifiers.org/clinvar/147624 ^@ GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 http://identifiers.org/clinvar/147625 ^@ GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 http://identifiers.org/clinvar/147626 ^@ GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 http://identifiers.org/clinvar/147627 ^@ GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 http://identifiers.org/clinvar/147628 ^@ GRCh38/hg38 14q13.3(chr14:36278291-36318687)x1 http://identifiers.org/clinvar/147629 ^@ GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1 http://identifiers.org/clinvar/147631 ^@ GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 http://identifiers.org/clinvar/147632 ^@ GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3 http://identifiers.org/clinvar/147633 ^@ GRCh38/hg38 3q29(chr3:195733529-195736631)x3 http://identifiers.org/clinvar/147634 ^@ GRCh38/hg38 22q11.23(chr22:25263205-25490840)x1 http://identifiers.org/clinvar/147635 ^@ GRCh38/hg38 14q32.33(chr14:105491009-105530212)x3 http://identifiers.org/clinvar/147636 ^@ GRCh38/hg38 22q13.1(chr22:38927584-38984034)x1 http://identifiers.org/clinvar/147637 ^@ GRCh38/hg38 18q12.2-12.3(chr18:39483168-39671665)x1 http://identifiers.org/clinvar/147638 ^@ GRCh38/hg38 7p22.3(chr7:1967724-2035327)x1 http://identifiers.org/clinvar/147639 ^@ GRCh38/hg38 12q24.12(chr12:111724654-111867329)x3 http://identifiers.org/clinvar/147640 ^@ GRCh38/hg38 8q22.3(chr8:102551629-102577634)x3 http://identifiers.org/clinvar/147641 ^@ GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 http://identifiers.org/clinvar/147642 ^@ GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 http://identifiers.org/clinvar/147643 ^@ GRCh38/hg38 5p13.3(chr5:31208753-32173244)x3 http://identifiers.org/clinvar/147644 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 http://identifiers.org/clinvar/147645 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 http://identifiers.org/clinvar/147646 ^@ GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1 http://identifiers.org/clinvar/147647 ^@ GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 http://identifiers.org/clinvar/147648 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1 http://identifiers.org/clinvar/147649 ^@ GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 http://identifiers.org/clinvar/147651 ^@ GRCh38/hg38 Xq26.3(chrX:135185755-135479954)x3 http://identifiers.org/clinvar/147652 ^@ GRCh38/hg38 21p11.2(chr21:10416371-10521065)x3 http://identifiers.org/clinvar/147653 ^@ GRCh38/hg38 13q34(chr13:114027418-114121390)x3 http://identifiers.org/clinvar/147654 ^@ GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3 http://identifiers.org/clinvar/147655 ^@ GRCh38/hg38 7q35(chr7:143455851-143456472)x3 http://identifiers.org/clinvar/147656 ^@ GRCh38/hg38 1p31.1(chr1:76253265-76573667)x3 http://identifiers.org/clinvar/147657 ^@ GRCh38/hg38 6p25.3(chr6:259528-350265)x3 http://identifiers.org/clinvar/147658 ^@ GRCh38/hg38 6p25.3(chr6:259528-350265)x1 http://identifiers.org/clinvar/147659 ^@ GRCh38/hg38 Xq27.2(chrX:141201875-141503211)x2 http://identifiers.org/clinvar/147660 ^@ GRCh38/hg38 Yq11.221(chrY:13632732-13911398)x2 http://identifiers.org/clinvar/147661 ^@ GRCh38/hg38 10q23.33(chr10:94694073-94853007)x1 http://identifiers.org/clinvar/147663 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1 http://identifiers.org/clinvar/147664 ^@ GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 http://identifiers.org/clinvar/147665 ^@ GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 http://identifiers.org/clinvar/147666 ^@ GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3 http://identifiers.org/clinvar/147667 ^@ GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 http://identifiers.org/clinvar/147668 ^@ GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 http://identifiers.org/clinvar/147669 ^@ GRCh38/hg38 17p12(chr17:14208455-15588434)x1 http://identifiers.org/clinvar/147670 ^@ GRCh38/hg38 6q27(chr6:169688809-170583214)x1 http://identifiers.org/clinvar/147671 ^@ GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1 http://identifiers.org/clinvar/147673 ^@ GRCh38/hg38 1q21.1(chr1:146392296-146966240)x1 http://identifiers.org/clinvar/147675 ^@ GRCh38/hg38 5p12(chr5:42804738-43066986)x1 http://identifiers.org/clinvar/147676 ^@ GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3 http://identifiers.org/clinvar/147677 ^@ GRCh38/hg38 Xq24(chrX:118722842-118908037)x2 http://identifiers.org/clinvar/147678 ^@ GRCh38/hg38 12p13.31(chr12:7747398-7936064)x3 http://identifiers.org/clinvar/147680 ^@ GRCh38/hg38 17q21.31(chr17:46154580-46267672)x3 http://identifiers.org/clinvar/147681 ^@ GRCh38/hg38 17q21.31(chr17:46154580-46267672)x1 http://identifiers.org/clinvar/147682 ^@ GRCh38/hg38 14q31.1(chr14:80208612-80270377)x1 http://identifiers.org/clinvar/147683 ^@ GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 http://identifiers.org/clinvar/147684 ^@ GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1 http://identifiers.org/clinvar/147685 ^@ GRCh38/hg38 3q29(chr3:195537187-195736631)x3 http://identifiers.org/clinvar/147686 ^@ GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 http://identifiers.org/clinvar/147687 ^@ GRCh38/hg38 7q36.3(chr7:157898696-159295947)x3 http://identifiers.org/clinvar/147688 ^@ GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3 http://identifiers.org/clinvar/147689 ^@ GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 http://identifiers.org/clinvar/147690 ^@ GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 http://identifiers.org/clinvar/147691 ^@ GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 http://identifiers.org/clinvar/147692 ^@ GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 http://identifiers.org/clinvar/147693 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2 http://identifiers.org/clinvar/147695 ^@ GRCh38/hg38 2p23.2-23.1(chr2:29578407-29941203)x1 http://identifiers.org/clinvar/147697 ^@ GRCh38/hg38 6p11.2-q11.1(chr6:57788605-62177316)x3 http://identifiers.org/clinvar/147698 ^@ GRCh38/hg38 12p13.31(chr12:7747398-7919345)x3 http://identifiers.org/clinvar/147699 ^@ GRCh38/hg38 18p11.32(chr18:374344-699626)x3 http://identifiers.org/clinvar/147700 ^@ GRCh38/hg38 1q31.3(chr1:196042751-196239755)x3 http://identifiers.org/clinvar/147701 ^@ GRCh38/hg38 3q26.33(chr3:179948335-180181559)x3 http://identifiers.org/clinvar/147702 ^@ GRCh38/hg38 17p13.3(chr17:2254635-2331068)x1 http://identifiers.org/clinvar/147703 ^@ GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 http://identifiers.org/clinvar/147704 ^@ GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 http://identifiers.org/clinvar/147705 ^@ GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 http://identifiers.org/clinvar/147706 ^@ GRCh38/hg38 Xq12(chrX:66595648-66675173)x2 http://identifiers.org/clinvar/147707 ^@ GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3 http://identifiers.org/clinvar/147708 ^@ GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 http://identifiers.org/clinvar/147709 ^@ GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1 http://identifiers.org/clinvar/147710 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 http://identifiers.org/clinvar/147711 ^@ GRCh38/hg38 Xp22.33(chrX:10679-2777359)x1 http://identifiers.org/clinvar/147712 ^@ GRCh38/hg38 Xq28(chrX:155699559-156022206)x1 http://identifiers.org/clinvar/147713 ^@ GRCh38/hg38 15q11.2-12(chr15:25337273-25553323)x1 http://identifiers.org/clinvar/147715 ^@ GRCh38/hg38 3q13.11(chr3:105422852-105685449)x1 http://identifiers.org/clinvar/147716 ^@ GRCh38/hg38 6q27(chr6:167943161-168376252)x3 http://identifiers.org/clinvar/147717 ^@ GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3 http://identifiers.org/clinvar/147718 ^@ GRCh38/hg38 3q26.31(chr3:172511598-172523485)x1 http://identifiers.org/clinvar/147719 ^@ GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 http://identifiers.org/clinvar/147720 ^@ GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1 http://identifiers.org/clinvar/147721 ^@ GRCh38/hg38 16q22.1(chr16:70018261-70160039)x1 http://identifiers.org/clinvar/147722 ^@ GRCh38/hg38 10q26.3(chr10:133538868-133591019)x3 http://identifiers.org/clinvar/147723 ^@ GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 http://identifiers.org/clinvar/147724 ^@ GRCh38/hg38 Xp11.21(chrX:56862562-57905327)x1 http://identifiers.org/clinvar/147726 ^@ GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3 http://identifiers.org/clinvar/147727 ^@ GRCh38/hg38 Xp21.2(chrX:29619149-29890183)x2 http://identifiers.org/clinvar/147729 ^@ GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1 http://identifiers.org/clinvar/147730 ^@ GRCh38/hg38 22q11.21(chr22:18087546-19196905)x3 http://identifiers.org/clinvar/147731 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 http://identifiers.org/clinvar/147734 ^@ GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1 http://identifiers.org/clinvar/147735 ^@ GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3 http://identifiers.org/clinvar/147736 ^@ GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3 http://identifiers.org/clinvar/147737 ^@ GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 http://identifiers.org/clinvar/147738 ^@ GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 http://identifiers.org/clinvar/147739 ^@ GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1 http://identifiers.org/clinvar/147740 ^@ GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1 http://identifiers.org/clinvar/147741 ^@ GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1 http://identifiers.org/clinvar/147743 ^@ GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 http://identifiers.org/clinvar/147744 ^@ GRCh38/hg38 4p16.3(chr4:51519-1405362)x1 http://identifiers.org/clinvar/147745 ^@ GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1 http://identifiers.org/clinvar/147747 ^@ GRCh38/hg38 Xq28(chrX:149722144-150326225)x3 http://identifiers.org/clinvar/147749 ^@ GRCh38/hg38 18q23(chr18:75988877-80252149)x1 http://identifiers.org/clinvar/147750 ^@ GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 http://identifiers.org/clinvar/147751 ^@ GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3 http://identifiers.org/clinvar/147752 ^@ GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3 http://identifiers.org/clinvar/147753 ^@ GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3 http://identifiers.org/clinvar/147754 ^@ GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 http://identifiers.org/clinvar/147755 ^@ GRCh38/hg38 22q13.31-13.32(chr22:47514247-48121695)x3 http://identifiers.org/clinvar/147756 ^@ GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 http://identifiers.org/clinvar/147759 ^@ GRCh38/hg38 3q28(chr3:191319392-191543941)x1 http://identifiers.org/clinvar/147761 ^@ GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 http://identifiers.org/clinvar/147762 ^@ GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 http://identifiers.org/clinvar/147763 ^@ GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 http://identifiers.org/clinvar/147764 ^@ GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 http://identifiers.org/clinvar/147765 ^@ GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 http://identifiers.org/clinvar/147766 ^@ GRCh38/hg38 2p16.3(chr2:50665709-50856331)x1 http://identifiers.org/clinvar/147767 ^@ GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3 http://identifiers.org/clinvar/147769 ^@ GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3 http://identifiers.org/clinvar/147770 ^@ GRCh38/hg38 11q23.3(chr11:115463428-115770089)x3 http://identifiers.org/clinvar/147771 ^@ GRCh38/hg38 5q21.3(chr5:108021878-108339280)x1 http://identifiers.org/clinvar/147772 ^@ GRCh38/hg38 6q14.1(chr6:77054858-77642277)x3 http://identifiers.org/clinvar/147773 ^@ GRCh38/hg38 Xq28(chrX:149489477-149681127)x2 http://identifiers.org/clinvar/147775 ^@ GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 http://identifiers.org/clinvar/147776 ^@ GRCh38/hg38 Xq22.1(chrX:99302107-100226819)x2 http://identifiers.org/clinvar/147778 ^@ GRCh38/hg38 3q25.2(chr3:154817795-155269377)x1 http://identifiers.org/clinvar/147780 ^@ GRCh38/hg38 18q23(chr18:77032666-78047782)x3 http://identifiers.org/clinvar/147781 ^@ GRCh38/hg38 5q23.2(chr5:126657759-126923623)x3 http://identifiers.org/clinvar/147784 ^@ GRCh38/hg38 Xq21.31(chrX:87173532-88102126)x2 http://identifiers.org/clinvar/147786 ^@ GRCh38/hg38 2q14.3(chr2:125749389-126488105)x3 http://identifiers.org/clinvar/147789 ^@ GRCh38/hg38 14q31.3(chr14:88463741-88715010)x1 http://identifiers.org/clinvar/147791 ^@ GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 http://identifiers.org/clinvar/147792 ^@ GRCh38/hg38 21q21.1-21.2(chr21:15341716-22826315)x1 http://identifiers.org/clinvar/147793 ^@ GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1 http://identifiers.org/clinvar/147794 ^@ GRCh38/hg38 14q23.3(chr14:66750744-66884969)x1 http://identifiers.org/clinvar/147798 ^@ GRCh38/hg38 7p21.1(chr7:17214494-17893255)x3 http://identifiers.org/clinvar/147799 ^@ GRCh38/hg38 Xp21.1-11.4(chrX:37723259-38263335)x2 http://identifiers.org/clinvar/147800 ^@ GRCh38/hg38 5q31.3(chr5:144019753-144858721)x3 http://identifiers.org/clinvar/147801 ^@ GRCh38/hg38 5q11.2(chr5:56717311-57029532)x1 http://identifiers.org/clinvar/147803 ^@ GRCh38/hg38 10p11.21(chr10:36028985-37397230)x3 http://identifiers.org/clinvar/147805 ^@ GRCh38/hg38 Xp22.33(chrX:1227766-1807393)x3 http://identifiers.org/clinvar/147806 ^@ GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1 http://identifiers.org/clinvar/147807 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 http://identifiers.org/clinvar/147808 ^@ GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 http://identifiers.org/clinvar/147809 ^@ GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 http://identifiers.org/clinvar/147810 ^@ GRCh38/hg38 7q11.23(chr7:74047652-74924037)x1 http://identifiers.org/clinvar/147812 ^@ GRCh38/hg38 Xp21.1(chrX:31724913-31806626)x0 http://identifiers.org/clinvar/147813 ^@ GRCh38/hg38 11p13(chr11:31299323-31726083)x1 http://identifiers.org/clinvar/147814 ^@ GRCh38/hg38 7q36.3(chr7:155804383-155851363)x3 http://identifiers.org/clinvar/147815 ^@ GRCh38/hg38 5q15(chr5:97195513-97947777)x1 http://identifiers.org/clinvar/147816 ^@ GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 http://identifiers.org/clinvar/147819 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 http://identifiers.org/clinvar/147821 ^@ GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 http://identifiers.org/clinvar/147822 ^@ GRCh38/hg38 3p26.3(chr3:1699229-2368860)x1 http://identifiers.org/clinvar/147824 ^@ GRCh38/hg38 9q33.1(chr9:118424978-118989375)x3 http://identifiers.org/clinvar/147825 ^@ GRCh38/hg38 10q25.1(chr10:105457999-105988085)x3 http://identifiers.org/clinvar/147827 ^@ GRCh38/hg38 9p23(chr9:12031727-12114297)x1 http://identifiers.org/clinvar/147828 ^@ GRCh38/hg38 14q32.33(chr14:106112755-106714110)x3 http://identifiers.org/clinvar/147829 ^@ GRCh38/hg38 1q31.1(chr1:188236818-188605371)x1 http://identifiers.org/clinvar/147831 ^@ GRCh38/hg38 7q31.31(chr7:121027884-121247246)x1 http://identifiers.org/clinvar/147832 ^@ GRCh38/hg38 17q22-23.1(chr17:59151820-59547491)x3 http://identifiers.org/clinvar/147833 ^@ GRCh38/hg38 3p12.3(chr3:74979514-75115565)x1 http://identifiers.org/clinvar/147834 ^@ GRCh38/hg38 15q13.2(chr15:30662523-30785630)x1 http://identifiers.org/clinvar/147835 ^@ GRCh38/hg38 9p24.3(chr9:220253-381489)x3 http://identifiers.org/clinvar/147836 ^@ GRCh38/hg38 14q32.33(chr14:105606325-105743185)x1 http://identifiers.org/clinvar/147837 ^@ GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 http://identifiers.org/clinvar/147838 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3 http://identifiers.org/clinvar/147839 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 http://identifiers.org/clinvar/147843 ^@ GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 http://identifiers.org/clinvar/147844 ^@ GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 http://identifiers.org/clinvar/147845 ^@ GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1 http://identifiers.org/clinvar/147847 ^@ GRCh38/hg38 7q31.31(chr7:119226617-119374558)x1 http://identifiers.org/clinvar/147848 ^@ GRCh38/hg38 12q21.31(chr12:82771954-83812649)x3 http://identifiers.org/clinvar/147849 ^@ GRCh38/hg38 4q28.3(chr4:134022081-134259014)x1 http://identifiers.org/clinvar/147850 ^@ GRCh38/hg38 7q11.21(chr7:63868094-64494908)x3 http://identifiers.org/clinvar/147851 ^@ GRCh38/hg38 Xp22.31(chrX:7711067-7992077)x3 http://identifiers.org/clinvar/147852 ^@ GRCh38/hg38 2p25.3(chr2:330817-943088)x3 http://identifiers.org/clinvar/147853 ^@ GRCh38/hg38 14q32.33(chr14:106396202-106714110)x3 http://identifiers.org/clinvar/147854 ^@ GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1 http://identifiers.org/clinvar/147855 ^@ GRCh38/hg38 3p12.3(chr3:75522003-75744122)x1 http://identifiers.org/clinvar/147856 ^@ GRCh38/hg38 3q26.33(chr3:181689247-181794116)x1 http://identifiers.org/clinvar/147857 ^@ GRCh38/hg38 17p13.1(chr17:10145851-10464716)x3 http://identifiers.org/clinvar/147858 ^@ GRCh38/hg38 17p11.2(chr17:21416753-22176920)x3 http://identifiers.org/clinvar/147859 ^@ GRCh38/hg38 13q12.11(chr13:19632400-20005117)x3 http://identifiers.org/clinvar/147860 ^@ GRCh38/hg38 17q12(chr17:35129859-35767049)x3 http://identifiers.org/clinvar/147861 ^@ GRCh38/hg38 6q15-16.1(chr6:90888950-93582834)x1 http://identifiers.org/clinvar/147863 ^@ GRCh38/hg38 18p11.23(chr18:7438814-8412548)x3 http://identifiers.org/clinvar/147864 ^@ GRCh38/hg38 17p13.3(chr17:759449-999134)x3 http://identifiers.org/clinvar/147865 ^@ GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3 http://identifiers.org/clinvar/147866 ^@ GRCh38/hg38 17q21.31(chr17:46273727-46661960)x3 http://identifiers.org/clinvar/147867 ^@ GRCh38/hg38 12q23.2(chr12:101203029-101486159)x3 http://identifiers.org/clinvar/147868 ^@ GRCh38/hg38 1q25.1(chr1:174499030-174687658)x1 http://identifiers.org/clinvar/147870 ^@ GRCh38/hg38 1p31.1(chr1:80621564-82040802)x1 http://identifiers.org/clinvar/147871 ^@ GRCh38/hg38 4q26(chr4:115400193-115992597)x1 http://identifiers.org/clinvar/147872 ^@ GRCh38/hg38 2p25.3(chr2:888150-1491401)x3 http://identifiers.org/clinvar/147873 ^@ GRCh38/hg38 15q14(chr15:34492822-34672001)x1 http://identifiers.org/clinvar/147874 ^@ GRCh38/hg38 12q24.32(chr12:126162882-126309883)x1 http://identifiers.org/clinvar/147875 ^@ GRCh38/hg38 Xp11.22(chrX:53403791-53795603)x2 http://identifiers.org/clinvar/147877 ^@ GRCh38/hg38 6q22.31(chr6:123352392-123845516)x3 http://identifiers.org/clinvar/147880 ^@ GRCh38/hg38 4q13.3(chr4:74097483-75266770)x1 http://identifiers.org/clinvar/147881 ^@ GRCh38/hg38 14q23.3(chr14:64952923-66295289)x3 http://identifiers.org/clinvar/147882 ^@ GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3 http://identifiers.org/clinvar/147883 ^@ GRCh38/hg38 Xq25(chrX:122217427-123074195)x2 http://identifiers.org/clinvar/147884 ^@ GRCh38/hg38 1p31.1(chr1:71592911-73610754)x3 http://identifiers.org/clinvar/147885 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42850107-43237158)x1 http://identifiers.org/clinvar/147887 ^@ GRCh38/hg38 3p26.3(chr3:624574-1091944)x3 http://identifiers.org/clinvar/147888 ^@ GRCh38/hg38 2p11.2(chr2:87148954-87655401)x3 http://identifiers.org/clinvar/147889 ^@ GRCh38/hg38 2p11.2(chr2:87148954-87655401)x1 http://identifiers.org/clinvar/147890 ^@ GRCh38/hg38 16p13.11(chr16:16431432-16678513)x1 http://identifiers.org/clinvar/147893 ^@ GRCh37/hg19 10q11.22(chr10:47006954-47074861)x1 http://identifiers.org/clinvar/147894 ^@ GRCh38/hg38 4q13.2-13.3(chr4:68537073-69610311)x3 http://identifiers.org/clinvar/147895 ^@ GRCh38/hg38 Xq28(chrX:154904963-155331063)x1 http://identifiers.org/clinvar/147896 ^@ GRCh38/hg38 8p23.1(chr8:12182421-12546553)x3 http://identifiers.org/clinvar/147897 ^@ GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1 http://identifiers.org/clinvar/147898 ^@ GRCh38/hg38 10q11.23(chr10:49109413-49618870)x1 http://identifiers.org/clinvar/147899 ^@ GRCh38/hg38 2p21(chr2:44944718-44945255)x3 http://identifiers.org/clinvar/147900 ^@ GRCh38/hg38 1q44(chr1:245584422-246492114)x3 http://identifiers.org/clinvar/147902 ^@ GRCh38/hg38 Yq12(chrY:56856197-56885333)x2 http://identifiers.org/clinvar/147903 ^@ GRCh38/hg38 Xq26.3(chrX:135591295-135741703)x2 http://identifiers.org/clinvar/147904 ^@ GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3 http://identifiers.org/clinvar/147905 ^@ GRCh38/hg38 13q33.3(chr13:107794992-108093296)x1 http://identifiers.org/clinvar/147906 ^@ GRCh38/hg38 15q25.2(chr15:83101364-83291966)x1 http://identifiers.org/clinvar/147907 ^@ GRCh38/hg38 17p13.2(chr17:4289368-4634221)x3 http://identifiers.org/clinvar/147908 ^@ GRCh38/hg38 Xq26.3(chrX:136145095-136556106)x3 http://identifiers.org/clinvar/147909 ^@ GRCh38/hg38 3q26.32(chr3:176992658-177191602)x3 http://identifiers.org/clinvar/147910 ^@ GRCh38/hg38 Xq12(chrX:66595648-66675114)x2 http://identifiers.org/clinvar/147911 ^@ GRCh38/hg38 15q26.3(chr15:100455891-101105126)x3 http://identifiers.org/clinvar/147912 ^@ GRCh38/hg38 5q31.3(chr5:144648025-144858721)x1 http://identifiers.org/clinvar/147913 ^@ GRCh38/hg38 Xq12(chrX:67956726-68353960)x3 http://identifiers.org/clinvar/147914 ^@ GRCh38/hg38 4q35.2(chr4:188486676-189047154)x1 http://identifiers.org/clinvar/147915 ^@ GRCh38/hg38 12q24.33(chr12:130965828-131650601)x3 http://identifiers.org/clinvar/147916 ^@ GRCh38/hg38 15q11.2(chr15:24186506-24454790)x1 http://identifiers.org/clinvar/147917 ^@ GRCh38/hg38 14q32.33(chr14:106259748-106668563)x3 http://identifiers.org/clinvar/147918 ^@ GRCh38/hg38 7q21.11(chr7:84371743-84509195)x1 http://identifiers.org/clinvar/147919 ^@ GRCh38/hg38 7p21.3(chr7:12109334-12653407)x3 http://identifiers.org/clinvar/147920 ^@ GRCh38/hg38 13q12.11(chr13:20234405-20427177)x1 http://identifiers.org/clinvar/147921 ^@ GRCh38/hg38 1q31.1(chr1:189460972-189593144)x1 http://identifiers.org/clinvar/147928 ^@ GRCh38/hg38 10p15.3-15.2(chr10:2331100-3058742)x3 http://identifiers.org/clinvar/147930 ^@ GRCh38/hg38 4q35.2(chr4:186936679-187589945)x3 http://identifiers.org/clinvar/147931 ^@ GRCh38/hg38 5p13.3(chr5:33120382-33282266)x1 http://identifiers.org/clinvar/147932 ^@ GRCh38/hg38 13q34(chr13:112505944-112884305)x3 http://identifiers.org/clinvar/147933 ^@ GRCh38/hg38 4p16.3(chr4:1985191-1987179)x1 http://identifiers.org/clinvar/147935 ^@ GRCh38/hg38 2p21(chr2:44945067-44945255)x3 http://identifiers.org/clinvar/147936 ^@ GRCh38/hg38 7q36.3(chr7:155804817-155805441)x3 http://identifiers.org/clinvar/147937 ^@ GRCh38/hg38 19p13.3-13.2(chr19:6870105-7103344)x3 http://identifiers.org/clinvar/147939 ^@ GRCh38/hg38 1q44(chr1:247682931-248093562)x3 http://identifiers.org/clinvar/147940 ^@ GRCh38/hg38 2q13(chr2:110123660-110207160)x3 http://identifiers.org/clinvar/147942 ^@ GRCh38/hg38 22q13.32-13.33(chr22:49020386-49584833)x3 http://identifiers.org/clinvar/147945 ^@ GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1 http://identifiers.org/clinvar/147946 ^@ GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 http://identifiers.org/clinvar/147947 ^@ GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3 http://identifiers.org/clinvar/147948 ^@ GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1 http://identifiers.org/clinvar/147949 ^@ NT_187693.1:g.(?_499836)_(894467_?)dup http://identifiers.org/clinvar/147950 ^@ GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1 http://identifiers.org/clinvar/147951 ^@ GRCh38/hg38 7p14.1(chr7:41184839-41403900)x1 http://identifiers.org/clinvar/147952 ^@ GRCh38/hg38 5p15.2(chr5:13846935-14246099)x3 http://identifiers.org/clinvar/147953 ^@ GRCh38/hg38 12q21.32(chr12:87683776-87807864)x1 http://identifiers.org/clinvar/147954 ^@ GRCh38/hg38 5q23.2(chr5:125607477-126299268)x3 http://identifiers.org/clinvar/147955 ^@ GRCh38/hg38 13q22.3-31.1(chr13:78177388-78681122)x1 http://identifiers.org/clinvar/147956 ^@ GRCh38/hg38 4q22.1(chr4:90421068-90921656)x1 http://identifiers.org/clinvar/147957 ^@ GRCh38/hg38 13q12.11(chr13:19837395-19956562)x3 http://identifiers.org/clinvar/147958 ^@ GRCh38/hg38 3q29(chr3:198003093-198110178)x3 http://identifiers.org/clinvar/147959 ^@ GRCh38/hg38 Xp22.31(chrX:7515855-7666651)x2 http://identifiers.org/clinvar/147960 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3 http://identifiers.org/clinvar/147963 ^@ GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 http://identifiers.org/clinvar/147964 ^@ GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 http://identifiers.org/clinvar/147965 ^@ GRCh38/hg38 16p12.3(chr16:19910619-20433405)x4 http://identifiers.org/clinvar/147967 ^@ GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 http://identifiers.org/clinvar/147968 ^@ GRCh38/hg38 Xp22.2(chrX:16065773-16479154)x3 http://identifiers.org/clinvar/147969 ^@ GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 http://identifiers.org/clinvar/147970 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 http://identifiers.org/clinvar/147972 ^@ GRCh38/hg38 1q31.1(chr1:189362122-189543758)x1 http://identifiers.org/clinvar/147973 ^@ GRCh38/hg38 1q31.1-31.2(chr1:190515693-191621152)x3 http://identifiers.org/clinvar/147974 ^@ GRCh38/hg38 7q11.23(chr7:76509965-76928707)x3 http://identifiers.org/clinvar/147975 ^@ GRCh38/hg38 7q11.23(chr7:76509965-76928707)x1 http://identifiers.org/clinvar/147977 ^@ GRCh38/hg38 10q26.3(chr10:133453852-133539242)x3 http://identifiers.org/clinvar/147978 ^@ GRCh38/hg38 17q12(chr17:36379367-36387940)x1 http://identifiers.org/clinvar/147980 ^@ GRCh37/hg19 22q11.23(chr22:24371005-24382415)x0 http://identifiers.org/clinvar/147982 ^@ GRCh38/hg38 5q15(chr5:94454031-94626426)x1 http://identifiers.org/clinvar/147983 ^@ GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1 http://identifiers.org/clinvar/147984 ^@ GRCh38/hg38 11q22.3(chr11:103134296-103787142)x3 http://identifiers.org/clinvar/147986 ^@ GRCh38/hg38 17q21.31(chr17:46304332-46685375)x3 http://identifiers.org/clinvar/147987 ^@ GRCh38/hg38 17p11.2(chr17:19031266-19148137)x1 http://identifiers.org/clinvar/147988 ^@ GRCh38/hg38 6p25.3(chr6:265879-350944)x1 http://identifiers.org/clinvar/147989 ^@ GRCh38/hg38 17q21.31(chr17:46347056-46661960)x1 http://identifiers.org/clinvar/147990 ^@ GRCh38/hg38 13q21.32(chr13:65713831-66552063)x3 http://identifiers.org/clinvar/147991 ^@ GRCh38/hg38 2p21(chr2:43676810-45016061)x3 http://identifiers.org/clinvar/147992 ^@ GRCh38/hg38 Xq28(chrX:149570094-150079450)x3 http://identifiers.org/clinvar/178801 ^@ NM_001010892.2(RSPH4A):c.1489G>A (p.Val497Ile) http://identifiers.org/clinvar/165061 ^@ NM_001010892.2(RSPH4A):c.1766T>C (p.Leu589Pro) http://identifiers.org/clinvar/164971 ^@ NM_002667.4(PLN):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/179394 ^@ NM_004100.4(EYA4):c.237A>G (p.Ala79=) http://identifiers.org/clinvar/178670 ^@ NM_004100.4(EYA4):c.580+14_580+16delTCT http://identifiers.org/clinvar/178345 ^@ NM_004100.4(EYA4):c.805-12T>C http://identifiers.org/clinvar/163447 ^@ NM_004100.4(EYA4):c.905G>A (p.Gly302Asp) http://identifiers.org/clinvar/163449 ^@ NM_004100.4(EYA4):c.1097G>A (p.Ser366Asn) http://identifiers.org/clinvar/163452 ^@ NM_004100.4(EYA4):c.1294G>C (p.Val432Leu) http://identifiers.org/clinvar/163453 ^@ NM_172105.3(EYA4):c.1793_1797delATGTT (p.Tyr598Cysfs) http://identifiers.org/clinvar/163299 ^@ NM_032122.4(DTNBP1):c.814C>T (p.Pro272Ser) http://identifiers.org/clinvar/163301 ^@ NM_183040.2(DTNBP1):c.889C>T (p.His297Tyr) http://identifiers.org/clinvar/163302 ^@ NM_032122.4(DTNBP1):c.356-7C>T http://identifiers.org/clinvar/165188 ^@ NM_001195291.2(SERPINB6):c.1107C>T (p.Asn369=) http://identifiers.org/clinvar/165190 ^@ NM_001195291.2(SERPINB6):c.443-12T>G http://identifiers.org/clinvar/165192 ^@ NM_001195291.2(SERPINB6):c.391G>A (p.Val131Ile) http://identifiers.org/clinvar/165194 ^@ NM_001195291.2(SERPINB6):c.199G>A (p.Gly67Ser) http://identifiers.org/clinvar/165196 ^@ NM_001195291.2(SERPINB6):c.133G>A (p.Val45Ile) http://identifiers.org/clinvar/178320 ^@ NM_080680.2(COL11A2):c.*4C>T http://identifiers.org/clinvar/178663 ^@ NM_080680.2(COL11A2):c.4884G>C (p.Glu1628Asp) http://identifiers.org/clinvar/178604 ^@ NM_080680.2(COL11A2):c.4799G>A (p.Arg1600Gln) http://identifiers.org/clinvar/162976 ^@ NM_080680.2(COL11A2):c.4683A>G (p.Thr1561=) http://identifiers.org/clinvar/178923 ^@ NM_080680.2(COL11A2):c.4495G>A (p.Glu1499Lys) http://identifiers.org/clinvar/178925 ^@ NM_080680.2(COL11A2):c.4206C>T (p.Gly1402=) http://identifiers.org/clinvar/178812 ^@ NM_080680.2(COL11A2):c.3932A>G (p.Asn1311Ser) http://identifiers.org/clinvar/178323 ^@ NM_080680.2(COL11A2):c.3860A>G (p.Asp1287Gly) http://identifiers.org/clinvar/178325 ^@ NM_080680.2(COL11A2):c.3616C>T (p.Leu1206=) http://identifiers.org/clinvar/178326 ^@ NM_080680.2(COL11A2):c.3576C>T (p.Gly1192=) http://identifiers.org/clinvar/162989 ^@ NM_080680.2(COL11A2):c.2758C>A (p.Pro920Thr) http://identifiers.org/clinvar/178327 ^@ NM_080680.2(COL11A2):c.2682G>A (p.Pro894=) http://identifiers.org/clinvar/162992 ^@ NM_080680.2(COL11A2):c.2186G>A (p.Arg729Gln) http://identifiers.org/clinvar/178329 ^@ NM_080680.2(COL11A2):c.1875C>T (p.Gly625=) http://identifiers.org/clinvar/179481 ^@ NM_080680.2(COL11A2):c.1817C>G (p.Ser606Trp) http://identifiers.org/clinvar/162993 ^@ NM_080680.2(COL11A2):c.1287C>T (p.Gly429=) http://identifiers.org/clinvar/162995 ^@ NM_001163771.1(COL11A2):c.836C>A (p.Pro279His) http://identifiers.org/clinvar/162997 ^@ NM_080680.2(COL11A2):c.353G>C (p.Arg118Pro) http://identifiers.org/clinvar/163857 ^@ NM_182548.3(LHFPL5):c.476G>A (p.Arg159His) http://identifiers.org/clinvar/163859 ^@ NM_182548.3(LHFPL5):c.638C>A (p.Ala213Glu) http://identifiers.org/clinvar/165064 ^@ NM_001193341.1(RSPH9):c.722+10C>T http://identifiers.org/clinvar/165067 ^@ NM_001193341.1(RSPH9):c.876_877delTGinsAT (p.His292_Ala293delinsGlnSer) http://identifiers.org/clinvar/163233 ^@ NM_004415.3(DSP):c.170+5G>A http://identifiers.org/clinvar/163235 ^@ NM_004415.3(DSP):c.264C>T (p.Ile88=) http://identifiers.org/clinvar/163237 ^@ NM_004415.3(DSP):c.273+5G>A http://identifiers.org/clinvar/163239 ^@ NM_004415.3(DSP):c.522T>C (p.Cys174=) http://identifiers.org/clinvar/178024 ^@ NM_004415.3(DSP):c.643G>A (p.Glu215Lys) http://identifiers.org/clinvar/178029 ^@ NM_004415.3(DSP):c.2131-10T>C http://identifiers.org/clinvar/179136 ^@ NM_004415.3(DSP):c.2540C>T (p.Pro847Leu) http://identifiers.org/clinvar/163973 ^@ NR_029615.1(MIR183):n.51G>T http://identifiers.org/clinvar/178377 ^@ NM_024915.3(GRHL2):c.216+8C>T http://identifiers.org/clinvar/179468 ^@ NM_024915.3(GRHL2):c.449T>G (p.Ile150Ser) http://identifiers.org/clinvar/178378 ^@ NM_024915.3(GRHL2):c.548G>A (p.Arg183Gln) http://identifiers.org/clinvar/163649 ^@ NM_024915.3(GRHL2):c.1517+12A>G http://identifiers.org/clinvar/163650 ^@ NM_024915.3(GRHL2):c.1690A>T (p.Met564Leu) http://identifiers.org/clinvar/165209 ^@ NM_003018.3(SFTPC):c.201+14G>A http://identifiers.org/clinvar/165211 ^@ NM_003018.3(SFTPC):c.436-8C>G http://identifiers.org/clinvar/163427 ^@ NM_000503.5(EYA1):c.1475+1G>C http://identifiers.org/clinvar/163429 ^@ NM_000503.5(EYA1):c.1402A>G (p.Arg468Gly) http://identifiers.org/clinvar/163431 ^@ NM_000503.5(EYA1):c.1295G>A (p.Arg432Lys) http://identifiers.org/clinvar/163433 ^@ NM_000503.5(EYA1):c.1186G>A (p.Gly396Arg) http://identifiers.org/clinvar/163435 ^@ NM_000503.5(EYA1):c.840C>A (p.Ile280=) http://identifiers.org/clinvar/178857 ^@ NM_000503.5(EYA1):c.428G>A (p.Trp143Ter) http://identifiers.org/clinvar/178689 ^@ NM_172060.3(EYA1):c.65C>T (p.Thr22Met) http://identifiers.org/clinvar/163441 ^@ NM_000503.5(EYA1):c.65G>A (p.Gly22Asp) http://identifiers.org/clinvar/180119 ^@ NM_015404.3(WHRN):c.2644C>T (p.Arg882Cys) http://identifiers.org/clinvar/179878 ^@ NM_015404.3(WHRN):c.2333G>A (p.Arg778Gln) http://identifiers.org/clinvar/178630 ^@ NM_002700.2(POU4F3):c.378G>A (p.Thr126=) http://identifiers.org/clinvar/164981 ^@ NM_002700.2(POU4F3):c.403C>T (p.Pro135Ser) http://identifiers.org/clinvar/164982 ^@ NM_002700.2(POU4F3):c.491C>T (p.Pro164Leu) http://identifiers.org/clinvar/165220 ^@ NM_000337.5(SGCD):c.-404G>A http://identifiers.org/clinvar/165222 ^@ NM_000337.5(SGCD):c.-352T>C http://identifiers.org/clinvar/177991 ^@ NM_172244.2(SGCD):c.-59G>A http://identifiers.org/clinvar/179031 ^@ NM_000337.5(SGCD):c.-44+11G>A http://identifiers.org/clinvar/178975 ^@ NM_172244.2(SGCD):c.4-12C>T http://identifiers.org/clinvar/179987 ^@ NM_172244.2(SGCD):c.177C>T (p.Val59=) http://identifiers.org/clinvar/165232 ^@ NM_172244.2(SGCD):c.294+1G>A http://identifiers.org/clinvar/178979 ^@ NM_172244.2(SGCD):c.383-11A>T http://identifiers.org/clinvar/165234 ^@ NM_000337.5(SGCD):c.494G>A (p.Arg165Gln) http://identifiers.org/clinvar/163500 ^@ NM_001190468.1(GDNF):c.480G>A (p.Arg160=) http://identifiers.org/clinvar/163962 ^@ NM_001038603.2(MARVELD2):c.288C>A (p.Asp96Glu) http://identifiers.org/clinvar/163964 ^@ NM_001038603.2(MARVELD2):c.494A>G (p.His165Arg) http://identifiers.org/clinvar/178408 ^@ NM_001038603.2(MARVELD2):c.585A>G (p.Ile195Met) http://identifiers.org/clinvar/178409 ^@ NM_001038603.2(MARVELD2):c.898T>A (p.Leu300Met) http://identifiers.org/clinvar/163969 ^@ NM_001038603.2(MARVELD2):c.1059A>G (p.Ile353Met) http://identifiers.org/clinvar/163971 ^@ NM_001038603.2(MARVELD2):c.1204G>A (p.Asp402Asn) http://identifiers.org/clinvar/179635 ^@ NM_003664.4(AP3B1):c.2409_2411delGAA (p.Lys804del) http://identifiers.org/clinvar/178702 ^@ NM_003664.4(AP3B1):c.1969-10G>A http://identifiers.org/clinvar/178703 ^@ NM_003664.4(AP3B1):c.1683C>T (p.Leu561=) http://identifiers.org/clinvar/178705 ^@ NM_003664.4(AP3B1):c.1038T>C (p.Asn346=) http://identifiers.org/clinvar/179382 ^@ NM_032119.3(ADGRV1):c.21A>C (p.Pro7=) http://identifiers.org/clinvar/179145 ^@ NM_032119.3(ADGRV1):c.425A>G (p.Asn142Ser) http://identifiers.org/clinvar/179689 ^@ NM_032119.3(ADGRV1):c.787G>A (p.Val263Met) http://identifiers.org/clinvar/179074 ^@ NM_032119.3(ADGRV1):c.1049C>A (p.Thr350Asn) http://identifiers.org/clinvar/163563 ^@ NM_032119.3(ADGRV1):c.1522A>C (p.Ile508Leu) http://identifiers.org/clinvar/178355 ^@ NM_032119.3(ADGRV1):c.2119A>T (p.Ile707Leu) http://identifiers.org/clinvar/178356 ^@ NM_032119.3(ADGRV1):c.2261T>C (p.Val754Ala) http://identifiers.org/clinvar/178357 ^@ NM_032119.3(ADGRV1):c.3255T>C (p.Asp1085=) http://identifiers.org/clinvar/178358 ^@ NM_032119.3(ADGRV1):c.3741G>A (p.Glu1247=) http://identifiers.org/clinvar/178360 ^@ NM_032119.3(ADGRV1):c.4149C>T (p.Tyr1383=) http://identifiers.org/clinvar/163575 ^@ NM_032119.3(ADGRV1):c.5311C>G (p.Gln1771Glu) http://identifiers.org/clinvar/163577 ^@ NM_032119.3(ADGRV1):c.5623G>A (p.Gly1875Arg) http://identifiers.org/clinvar/163579 ^@ NM_032119.3(ADGRV1):c.6161G>A (p.Ser2054Asn) http://identifiers.org/clinvar/178361 ^@ NM_032119.3(ADGRV1):c.6383G>A (p.Arg2128Gln) http://identifiers.org/clinvar/163583 ^@ NM_032119.3(ADGRV1):c.7867G>A (p.Glu2623Lys) http://identifiers.org/clinvar/163585 ^@ NM_032119.3(ADGRV1):c.8088G>A (p.Leu2696=) http://identifiers.org/clinvar/178949 ^@ NM_032119.3(ADGRV1):c.8521A>G (p.Asn2841Asp) http://identifiers.org/clinvar/179672 ^@ NM_032119.3(ADGRV1):c.9291T>G (p.Ser3097Arg) http://identifiers.org/clinvar/163589 ^@ NM_032119.3(ADGRV1):c.9558C>T (p.Thr3186=) http://identifiers.org/clinvar/163590 ^@ NM_032119.3(ADGRV1):c.9607T>A (p.Ser3203Thr) http://identifiers.org/clinvar/179597 ^@ NM_032119.3(ADGRV1):c.10060_10063delACAA (p.Thr3354Serfs) http://identifiers.org/clinvar/179235 ^@ NM_032119.3(ADGRV1):c.10214G>A (p.Arg3405Gln) http://identifiers.org/clinvar/163596 ^@ NM_032119.3(ADGRV1):c.10796G>C (p.Gly3599Ala) http://identifiers.org/clinvar/163598 ^@ NM_032119.3(ADGRV1):c.11201T>C (p.Val3734Ala) http://identifiers.org/clinvar/178364 ^@ NM_032119.3(ADGRV1):c.11568T>C (p.Val3856=) http://identifiers.org/clinvar/178365 ^@ NM_032119.3(ADGRV1):c.11974G>A (p.Asp3992Asn) http://identifiers.org/clinvar/163601 ^@ NM_032119.3(ADGRV1):c.12181G>T (p.Val4061Phe) http://identifiers.org/clinvar/178366 ^@ NM_032119.3(ADGRV1):c.12212G>A (p.Arg4071Gln) http://identifiers.org/clinvar/163605 ^@ NM_032119.3(ADGRV1):c.12463C>T (p.Pro4155Ser) http://identifiers.org/clinvar/163603 ^@ NM_032119.3(ADGRV1):c.12506A>G (p.Tyr4169Cys) http://identifiers.org/clinvar/179305 ^@ NM_032119.3(ADGRV1):c.12631C>T (p.Arg4211Ter) http://identifiers.org/clinvar/179406 ^@ NM_032119.3(ADGRV1):c.12830G>T (p.Arg4277Leu) http://identifiers.org/clinvar/179452 ^@ NM_032119.3(ADGRV1):c.13336G>A (p.Gly4446Arg) http://identifiers.org/clinvar/179571 ^@ NM_032119.3(ADGRV1):c.13496G>A (p.Arg4499His) http://identifiers.org/clinvar/163616 ^@ NM_032119.3(ADGRV1):c.13765G>A (p.Val4589Met) http://identifiers.org/clinvar/163617 ^@ NM_032119.3(ADGRV1):c.14043+8T>C http://identifiers.org/clinvar/178369 ^@ NM_032119.3(ADGRV1):c.14532G>T (p.Leu4844=) http://identifiers.org/clinvar/178371 ^@ NM_032119.3(ADGRV1):c.14943G>C (p.Gln4981His) http://identifiers.org/clinvar/179823 ^@ NM_032119.3(ADGRV1):c.15855A>G (p.Leu5285=) http://identifiers.org/clinvar/178372 ^@ NM_032119.3(ADGRV1):c.16312A>G (p.Thr5438Ala) http://identifiers.org/clinvar/163624 ^@ NM_032119.3(ADGRV1):c.16699G>A (p.Val5567Ile) http://identifiers.org/clinvar/163626 ^@ NM_032119.3(ADGRV1):c.17184T>C (p.Thr5728=) http://identifiers.org/clinvar/179121 ^@ NM_032119.3(ADGRV1):c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs) http://identifiers.org/clinvar/179508 ^@ NM_032119.3(ADGRV1):c.17512G>A (p.Val5838Ile) http://identifiers.org/clinvar/178882 ^@ NM_032119.3(ADGRV1):c.17722G>A (p.Ala5908Thr) http://identifiers.org/clinvar/178373 ^@ NM_032119.3(ADGRV1):c.17871G>A (p.Ala5957=) http://identifiers.org/clinvar/178374 ^@ NM_032119.3(ADGRV1):c.18470A>G (p.Asn6157Ser) http://identifiers.org/clinvar/179470 ^@ NM_001010892.2(RSPH4A):c.-16_-12delTTCTTinsCACGCCCCTTTCATCCA http://identifiers.org/clinvar/165058 ^@ NM_001010892.2(RSPH4A):c.584C>G (p.Pro195Arg) http://identifiers.org/clinvar/178800 ^@ NM_001010892.2(RSPH4A):c.1245G>A (p.Gln415=) http://identifiers.org/clinvar/165060 ^@ NM_001010892.2(RSPH4A):c.1667G>A (p.Arg556His) http://identifiers.org/clinvar/165062 ^@ NM_001010892.2(RSPH4A):c.1879A>C (p.Asn627His) http://identifiers.org/clinvar/164972 ^@ NM_002667.4(PLN):c.37dupA (p.Arg13Lysfs) http://identifiers.org/clinvar/163443 ^@ NM_004100.4(EYA4):c.263C>G (p.Pro88Arg) http://identifiers.org/clinvar/163445 ^@ NC_000006.12:g.133462764_(133464858_?)del http://identifiers.org/clinvar/163446 ^@ NM_004100.4(EYA4):c.866C>T (p.Thr289Met) http://identifiers.org/clinvar/163448 ^@ NM_004100.4(EYA4):c.902_907dupATGGCA (p.Gly302_Thr303insAsnGly) http://identifiers.org/clinvar/163451 ^@ NM_004100.4(EYA4):c.1109G>A (p.Arg370His) http://identifiers.org/clinvar/178347 ^@ NM_004100.4(EYA4):c.1418G>T (p.Gly473Val) http://identifiers.org/clinvar/163454 ^@ NM_004100.4(EYA4):c.1739-64G>A http://identifiers.org/clinvar/163300 ^@ NM_183040.2(DTNBP1):c.907G>A (p.Ala303Thr) http://identifiers.org/clinvar/178772 ^@ NM_183040.2(DTNBP1):c.870A>G (p.Pro290=) http://identifiers.org/clinvar/179927 ^@ NM_001195291.2(SERPINB6):c.1140G>A (p.Pro380=) http://identifiers.org/clinvar/165189 ^@ NM_001195291.2(SERPINB6):c.472T>G (p.Ser158Ala) http://identifiers.org/clinvar/165191 ^@ NM_004568.5(SERPINB6):c.430+3G>A http://identifiers.org/clinvar/178631 ^@ NM_001195291.2(SERPINB6):c.252C>T (p.Asn84=) http://identifiers.org/clinvar/165195 ^@ NM_001195291.2(SERPINB6):c.137A>C (p.Tyr46Ser) http://identifiers.org/clinvar/179870 ^@ NM_001195291.2(SERPINB6):c.30A>G (p.Glu10=) http://identifiers.org/clinvar/178321 ^@ NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) http://identifiers.org/clinvar/178924 ^@ NM_080680.2(COL11A2):c.4863+7G>A http://identifiers.org/clinvar/178688 ^@ NM_080680.2(COL11A2):c.4705C>T (p.Arg1569Cys) http://identifiers.org/clinvar/162977 ^@ NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=) http://identifiers.org/clinvar/178322 ^@ NM_080680.2(COL11A2):c.4458T>A (p.Gly1486=) http://identifiers.org/clinvar/162981 ^@ NM_080680.2(COL11A2):c.4040C>A (p.Pro1347Gln) http://identifiers.org/clinvar/179383 ^@ NM_080680.2(COL11A2):c.3878G>A (p.Arg1293Gln) http://identifiers.org/clinvar/178324 ^@ NM_080680.2(COL11A2):c.3622C>T (p.Pro1208Ser) http://identifiers.org/clinvar/162982 ^@ NM_080680.2(COL11A2):c.3583-3C>T http://identifiers.org/clinvar/178927 ^@ NM_080680.2(COL11A2):c.2921C>T (p.Ala974Val) http://identifiers.org/clinvar/162990 ^@ NM_080680.2(COL11A2):c.2693G>A (p.Gly898Glu) http://identifiers.org/clinvar/162991 ^@ NM_080680.2(COL11A2):c.2629-15dupC http://identifiers.org/clinvar/178328 ^@ NM_080680.2(COL11A2):c.2115+7T>C http://identifiers.org/clinvar/179480 ^@ NM_080680.2(COL11A2):c.1872+5G>A http://identifiers.org/clinvar/179347 ^@ NM_080680.2(COL11A2):c.1427C>T (p.Ala476Val) http://identifiers.org/clinvar/162994 ^@ NM_080680.2(COL11A2):c.1188C>T (p.Leu396=) http://identifiers.org/clinvar/162996 ^@ NM_080680.2(COL11A2):c.388C>T (p.Arg130Trp) http://identifiers.org/clinvar/163856 ^@ NM_182548.3(LHFPL5):c.214G>A (p.Val72Met) http://identifiers.org/clinvar/163858 ^@ NM_182548.3(LHFPL5):c.615G>C (p.Lys205Asn) http://identifiers.org/clinvar/165063 ^@ NM_152732.4(RSPH9):c.421G>A (p.Val141Met) http://identifiers.org/clinvar/165065 ^@ NM_152732.4(RSPH9):c.781G>A (p.Val261Ile) http://identifiers.org/clinvar/163232 ^@ NM_004415.3(DSP):c.111C>A (p.Thr37=) http://identifiers.org/clinvar/179633 ^@ NM_004415.3(DSP):c.170+11G>T http://identifiers.org/clinvar/163236 ^@ NM_004415.3(DSP):c.269A>G (p.Gln90Arg) http://identifiers.org/clinvar/179249 ^@ NM_004415.3(DSP):c.491_492delCCinsAGCTCGAGTCCCTCG (p.Ala164Glufs) http://identifiers.org/clinvar/178023 ^@ NM_004415.3(DSP):c.531C>G (p.Gly177=) http://identifiers.org/clinvar/177769 ^@ NM_004415.3(DSP):c.741G>T (p.Ala247=) http://identifiers.org/clinvar/179772 ^@ NM_004415.3(DSP):c.2130+1G>A http://identifiers.org/clinvar/163253 ^@ NM_004415.3(DSP):c.2437-11delT http://identifiers.org/clinvar/177771 ^@ NM_004415.3(DSP):c.2631G= (p.Arg877=) http://identifiers.org/clinvar/163977 ^@ NR_029512.1(MIR96):n.36T>C http://identifiers.org/clinvar/178828 ^@ NM_024915.3(GRHL2):c.285-14delG http://identifiers.org/clinvar/163646 ^@ NM_024915.3(GRHL2):c.543G>A (p.Glu181=) http://identifiers.org/clinvar/163648 ^@ NM_024915.3(GRHL2):c.1500G>A (p.Thr500=) http://identifiers.org/clinvar/178610 ^@ NM_024915.3(GRHL2):c.1572A>G (p.Pro524=) http://identifiers.org/clinvar/178691 ^@ NM_002052.4(GATA4):c.732C>T (p.Tyr244=) http://identifiers.org/clinvar/165210 ^@ NM_003018.3(SFTPC):c.413C>A (p.Thr138Asn) http://identifiers.org/clinvar/165212 ^@ NM_003018.3(SFTPC):c.557G>A (p.Ser186Asn) http://identifiers.org/clinvar/163428 ^@ NM_000503.5(EYA1):c.1425C>T (p.Thr475=) http://identifiers.org/clinvar/163430 ^@ NM_000503.5(EYA1):c.1360+2C>T http://identifiers.org/clinvar/163432 ^@ NM_000503.5(EYA1):c.1199+13G>T http://identifiers.org/clinvar/163434 ^@ NM_000503.5(EYA1):c.1141-15T>G http://identifiers.org/clinvar/178608 ^@ NM_000503.5(EYA1):c.744G>A (p.Thr248=) http://identifiers.org/clinvar/179232 ^@ NM_000503.5(EYA1):c.299C>A (p.Thr100Asn) http://identifiers.org/clinvar/163440 ^@ NM_000503.5(EYA1):c.107C>T (p.Thr36Ile) http://identifiers.org/clinvar/179975 ^@ NM_015404.3(WHRN):c.2722T>C (p.Ter908Gln) http://identifiers.org/clinvar/179365 ^@ NM_015404.3(WHRN):c.2569C>T (p.Gln857Ter) http://identifiers.org/clinvar/163045 ^@ NM_015404.3(WHRN):c.2256G= (p.Gln752=) http://identifiers.org/clinvar/178336 ^@ NM_015404.3(WHRN):c.1992G>A (p.Pro664=) http://identifiers.org/clinvar/163048 ^@ NM_015404.3(WHRN):c.1627-5T>A http://identifiers.org/clinvar/163050 ^@ NM_015404.3(WHRN):c.1222C>A (p.Pro408Thr) http://identifiers.org/clinvar/177752 ^@ NM_015404.3(WHRN):c.1091A>G (p.His364Arg) http://identifiers.org/clinvar/163177 ^@ NM_203447.3(DOCK8):c.4886+3A>G http://identifiers.org/clinvar/178771 ^@ NM_203447.3(DOCK8):c.5433G>A (p.Glu1811=) http://identifiers.org/clinvar/165402 ^@ NM_004817.3(TJP2):c.61-6A>T http://identifiers.org/clinvar/179149 ^@ NM_004817.3(TJP2):c.322A>T (p.Ser108Cys) http://identifiers.org/clinvar/178542 ^@ NM_004817.3(TJP2):c.644G>A (p.Arg215His) http://identifiers.org/clinvar/178639 ^@ NM_004817.3(TJP2):c.1091C>T (p.Thr364Met) http://identifiers.org/clinvar/178543 ^@ NM_004817.3(TJP2):c.1258C>T (p.Arg420Cys) http://identifiers.org/clinvar/165410 ^@ NM_004817.3(TJP2):c.1444delG (p.Asp482Thrfs) http://identifiers.org/clinvar/165412 ^@ NM_004817.3(TJP2):c.2129T>C (p.Val710Ala) http://identifiers.org/clinvar/165414 ^@ NM_004817.3(TJP2):c.2137A>G (p.Ser713Gly) http://identifiers.org/clinvar/165416 ^@ NM_004817.3(TJP2):c.2636A>G (p.Gln879Arg) http://identifiers.org/clinvar/165417 ^@ NM_004817.3(TJP2):c.2720T>C (p.Met907Thr) http://identifiers.org/clinvar/178684 ^@ NM_004817.3(TJP2):c.2858C>T (p.Ser953Leu) http://identifiers.org/clinvar/165421 ^@ NM_004817.3(TJP2):c.2865G>A (p.Pro955=) http://identifiers.org/clinvar/165422 ^@ NM_004817.3(TJP2):c.2880+19C>T http://identifiers.org/clinvar/179110 ^@ NM_004817.3(TJP2):c.2987C>T (p.Pro996Leu) http://identifiers.org/clinvar/165425 ^@ NM_004817.3(TJP2):c.3342T>C (p.His1114=) http://identifiers.org/clinvar/165426 ^@ NM_004817.3(TJP2):c.3500G>A (p.Arg1167His) http://identifiers.org/clinvar/179445 ^@ NM_138691.2(TMC1):c.7C>A (p.Pro3Thr) http://identifiers.org/clinvar/178824 ^@ NM_138691.2(TMC1):c.557C>G (p.Ala186Gly) http://identifiers.org/clinvar/178959 ^@ NM_138691.2(TMC1):c.1022A>C (p.Asn341Thr) http://identifiers.org/clinvar/165434 ^@ NM_138691.2(TMC1):c.1233G>A (p.Met411Ile) http://identifiers.org/clinvar/179070 ^@ NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) http://identifiers.org/clinvar/165436 ^@ NM_138691.2(TMC1):c.1532C>A (p.Pro511His) http://identifiers.org/clinvar/165439 ^@ NM_138691.2(TMC1):c.1796G>A (p.Gly599Asp) http://identifiers.org/clinvar/165441 ^@ NM_138691.2(TMC1):c.2070G>A (p.Ala690=) http://identifiers.org/clinvar/165443 ^@ NM_138691.2(TMC1):c.*1T>A http://identifiers.org/clinvar/179398 ^@ NM_002839.3(PTPRD):c.5534+7_5534+8insAGTTACAGTTCAAGAAGGGTAAGTT http://identifiers.org/clinvar/178135 ^@ NM_004612.3(TGFBR1):c.120C>T (p.Leu40=) http://identifiers.org/clinvar/178136 ^@ NM_004612.3(TGFBR1):c.214A>T (p.Ile72Leu) http://identifiers.org/clinvar/165386 ^@ NM_004612.3(TGFBR1):c.640G>T (p.Gly214Cys) http://identifiers.org/clinvar/177890 ^@ NM_004612.3(TGFBR1):c.994_999delAGAGAT (p.Arg332_Asp333del) http://identifiers.org/clinvar/164883 ^@ NC_000010.11:g.(?_54317271)_(54664277_?)del http://identifiers.org/clinvar/178524 ^@ NM_001195263.1(PDZD7):c.2357G>A (p.Arg786Gln) http://identifiers.org/clinvar/164939 ^@ NM_001195263.1(PDZD7):c.2157C>T (p.Asp719=) http://identifiers.org/clinvar/178525 ^@ NM_001195263.1(PDZD7):c.1008C>T (p.Pro336=) http://identifiers.org/clinvar/163680 ^@ NM_024747.5(HPS6):c.99A>G (p.Arg33=) http://identifiers.org/clinvar/163682 ^@ NM_024747.5(HPS6):c.455C>T (p.Ser152Leu) http://identifiers.org/clinvar/179289 ^@ NM_001134363.2(RBM20):c.56C>G (p.Pro19Arg) http://identifiers.org/clinvar/165022 ^@ NM_001134363.2(RBM20):c.280C>T (p.Leu94=) http://identifiers.org/clinvar/178978 ^@ NM_001134363.2(RBM20):c.364C>A (p.Gln122Lys) http://identifiers.org/clinvar/178111 ^@ NM_001134363.2(RBM20):c.680G>T (p.Gly227Val) http://identifiers.org/clinvar/179028 ^@ NM_001134363.2(RBM20):c.849C>T (p.Tyr283=) http://identifiers.org/clinvar/178877 ^@ NM_001134363.2(RBM20):c.1093G>A (p.Gly365Arg) http://identifiers.org/clinvar/180043 ^@ NM_001134363.2(RBM20):c.1259A>G (p.Lys420Arg) http://identifiers.org/clinvar/180056 ^@ NM_001134363.2(RBM20):c.1275+8G>T http://identifiers.org/clinvar/165037 ^@ NM_001134363.2(RBM20):c.1418C>T (p.Ala473Val) http://identifiers.org/clinvar/165035 ^@ NM_001134363.2(RBM20):c.1519G>A (p.Gly507Arg) http://identifiers.org/clinvar/179707 ^@ NM_001134363.2(RBM20):c.1816G>A (p.Val606Met) http://identifiers.org/clinvar/178112 ^@ NM_001134363.2(RBM20):c.2201G>A (p.Arg734Gln) http://identifiers.org/clinvar/165041 ^@ NM_001134363.2(RBM20):c.2357A>G (p.Asp786Gly) http://identifiers.org/clinvar/179425 ^@ NM_001134363.2(RBM20):c.2746G>A (p.Glu916Lys) http://identifiers.org/clinvar/165045 ^@ NM_001134363.2(RBM20):c.2855C>T (p.Thr952Ile) http://identifiers.org/clinvar/179029 ^@ NM_001134363.2(RBM20):c.3004C>G (p.Leu1002Val) http://identifiers.org/clinvar/165048 ^@ NM_001134363.2(RBM20):c.3115C>T (p.Pro1039Ser) http://identifiers.org/clinvar/165049 ^@ NM_001134363.2(RBM20):c.3265C>A (p.Pro1089Thr) http://identifiers.org/clinvar/165237 ^@ NM_007373.3(SHOC2):c.-125C>T http://identifiers.org/clinvar/162766 ^@ NM_004281.3(BAG3):c.-4C>T http://identifiers.org/clinvar/162768 ^@ NM_004281.3(BAG3):c.55C>A (p.Arg19Ser) http://identifiers.org/clinvar/180009 ^@ NM_004281.3(BAG3):c.100_107delACCGGCTG (p.Thr34Alafs) http://identifiers.org/clinvar/179541 ^@ NM_004281.3(BAG3):c.180+13C>T http://identifiers.org/clinvar/162774 ^@ NM_004281.3(BAG3):c.230C>T (p.Pro77Leu) http://identifiers.org/clinvar/162775 ^@ NM_004281.3(BAG3):c.283C>G (p.Pro95Ala) http://identifiers.org/clinvar/179298 ^@ NM_004281.3(BAG3):c.467C>G (p.Ala156Gly) http://identifiers.org/clinvar/178008 ^@ NM_004281.3(BAG3):c.645C>T (p.Asn215=) http://identifiers.org/clinvar/162778 ^@ NM_004281.3(BAG3):c.771C>T (p.Pro257=) http://identifiers.org/clinvar/162780 ^@ NM_004281.3(BAG3):c.888C>T (p.His296=) http://identifiers.org/clinvar/179764 ^@ NM_004281.3(BAG3):c.1067delC (p.Pro356Hisfs) http://identifiers.org/clinvar/162783 ^@ NM_004281.3(BAG3):c.1217C>T (p.Thr406Ile) http://identifiers.org/clinvar/162785 ^@ NM_004281.3(BAG3):c.1274T>A (p.Val425Glu) http://identifiers.org/clinvar/179626 ^@ NM_004281.3(BAG3):c.1422C>T (p.Ala474=) http://identifiers.org/clinvar/162787 ^@ NM_004281.3(BAG3):c.1588G>A (p.Val530Met) http://identifiers.org/clinvar/179556 ^@ NM_006393.2(NEBL):c.*4T>A http://identifiers.org/clinvar/164735 ^@ NM_006393.2(NEBL):c.2820C>T (p.His940=) http://identifiers.org/clinvar/180011 ^@ NM_006393.2(NEBL):c.2499G>T (p.Arg833Ser) http://identifiers.org/clinvar/164739 ^@ NM_006393.2(NEBL):c.2475C>T (p.His825=) http://identifiers.org/clinvar/164741 ^@ NM_006393.2(NEBL):c.2417C>T (p.Thr806Ile) http://identifiers.org/clinvar/164743 ^@ NM_006393.2(NEBL):c.2346+6G>A http://identifiers.org/clinvar/178829 ^@ NM_006393.2(NEBL):c.2056-13T>G http://identifiers.org/clinvar/179499 ^@ NM_006393.2(NEBL):c.1963-13C>T http://identifiers.org/clinvar/164748 ^@ NM_006393.2(NEBL):c.1904C>T (p.Ala635Val) http://identifiers.org/clinvar/178097 ^@ NM_006393.2(NEBL):c.1728T>C (p.Asp576=) http://identifiers.org/clinvar/179094 ^@ NM_006393.2(NEBL):c.1496T>G (p.Met499Arg) http://identifiers.org/clinvar/179438 ^@ NM_006393.2(NEBL):c.1272A>G (p.Gly424=) http://identifiers.org/clinvar/164755 ^@ NM_006393.2(NEBL):c.1228-7C>T http://identifiers.org/clinvar/178099 ^@ NM_006393.2(NEBL):c.1008+15G>A http://identifiers.org/clinvar/164757 ^@ NM_006393.2(NEBL):c.1008+4C>T http://identifiers.org/clinvar/164759 ^@ NM_006393.2(NEBL):c.682C>G (p.Gln228Glu) http://identifiers.org/clinvar/164761 ^@ NM_006393.2(NEBL):c.624C>T (p.Pro208=) http://identifiers.org/clinvar/164764 ^@ NM_006393.2(NEBL):c.561G>C (p.Gln187His) http://identifiers.org/clinvar/178100 ^@ NM_006393.2(NEBL):c.369+5G>A http://identifiers.org/clinvar/179196 ^@ NM_213569.2(NEBL):c.357+73457delT http://identifiers.org/clinvar/164768 ^@ NM_006393.2(NEBL):c.240C>T (p.Ile80=) http://identifiers.org/clinvar/164770 ^@ NM_006393.2(NEBL):c.182C>T (p.Ser61Phe) http://identifiers.org/clinvar/164772 ^@ NM_006393.2(NEBL):c.56G>A (p.Gly19Glu) http://identifiers.org/clinvar/164774 ^@ NM_213569.2(NEBL):c.250-10T>G http://identifiers.org/clinvar/164777 ^@ NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) http://identifiers.org/clinvar/164778 ^@ NM_213569.2(NEBL):c.69+15G>T http://identifiers.org/clinvar/178989 ^@ NM_017433.4(MYO3A):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/164604 ^@ NM_017433.4(MYO3A):c.409-16_409-15delAT http://identifiers.org/clinvar/179153 ^@ NM_017433.4(MYO3A):c.568T>C (p.Phe190Leu) http://identifiers.org/clinvar/179777 ^@ NM_017433.4(MYO3A):c.731+4_731+5insTA http://identifiers.org/clinvar/179933 ^@ NM_017433.4(MYO3A):c.1038A>G (p.Leu346=) http://identifiers.org/clinvar/178463 ^@ NM_017433.4(MYO3A):c.1275G>A (p.Gln425=) http://identifiers.org/clinvar/178465 ^@ NM_017433.4(MYO3A):c.1643C>A (p.Pro548His) http://identifiers.org/clinvar/164618 ^@ NM_017433.4(MYO3A):c.1777-14G>T http://identifiers.org/clinvar/164619 ^@ NM_017433.4(MYO3A):c.2133G>A (p.Leu711=) http://identifiers.org/clinvar/164621 ^@ NM_017433.4(MYO3A):c.2405A>G (p.Gln802Arg) http://identifiers.org/clinvar/164622 ^@ NM_017433.4(MYO3A):c.2719G>A (p.Asp907Asn) http://identifiers.org/clinvar/164624 ^@ NM_017433.4(MYO3A):c.2973G>T (p.Arg991=) http://identifiers.org/clinvar/179490 ^@ NM_017433.4(MYO3A):c.3086A>G (p.Asp1029Gly) http://identifiers.org/clinvar/164625 ^@ NM_017433.4(MYO3A):c.3408C>T (p.Phe1136=) http://identifiers.org/clinvar/178469 ^@ NM_017433.4(MYO3A):c.3584T>C (p.Val1195Ala) http://identifiers.org/clinvar/164628 ^@ NM_017433.4(MYO3A):c.3589G>A (p.Glu1197Lys) http://identifiers.org/clinvar/178471 ^@ NM_017433.4(MYO3A):c.4439-12C>T http://identifiers.org/clinvar/178472 ^@ NM_017433.4(MYO3A):c.4589A>T (p.Gln1530Leu) http://identifiers.org/clinvar/165056 ^@ NM_020975.4(RET):c.3187+47T>C http://identifiers.org/clinvar/164927 ^@ NM_033056.3(PCDH15):c.1256A>G (p.Asn419Ser) http://identifiers.org/clinvar/164929 ^@ NM_033056.3(PCDH15):c.1141C>G (p.Leu381Val) http://identifiers.org/clinvar/164930 ^@ NM_033056.3(PCDH15):c.913C>G (p.Gln305Glu) http://identifiers.org/clinvar/164932 ^@ NM_033056.3(PCDH15):c.734G>A (p.Arg245Gln) http://identifiers.org/clinvar/177809 ^@ NM_033056.3(PCDH15):c.706-8C= http://identifiers.org/clinvar/164934 ^@ NM_033056.3(PCDH15):c.470A>G (p.Asn157Ser) http://identifiers.org/clinvar/178523 ^@ NM_033056.3(PCDH15):c.-5A>G http://identifiers.org/clinvar/179083 ^@ NM_022124.5(CDH23):c.137C>A (p.Thr46Lys) http://identifiers.org/clinvar/162866 ^@ NM_022124.5(CDH23):c.366T= (p.Val122=) http://identifiers.org/clinvar/178293 ^@ NM_022124.5(CDH23):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/177730 ^@ NM_022124.5(CDH23):c.429+13G= http://identifiers.org/clinvar/178295 ^@ NM_022124.5(CDH23):c.574G>C (p.Glu192Gln) http://identifiers.org/clinvar/178296 ^@ NM_022124.5(CDH23):c.825C>T (p.Ile275=) http://identifiers.org/clinvar/162876 ^@ NM_022124.5(CDH23):c.945+1G>T http://identifiers.org/clinvar/179216 ^@ NM_001171932.1(CDH23):c.996G>A (p.Thr332=) http://identifiers.org/clinvar/178298 ^@ NM_022124.5(CDH23):c.1227G>A (p.Ala409=) http://identifiers.org/clinvar/162881 ^@ NM_052836.3(CDH23):c.1363G>A (p.Asp455Asn) http://identifiers.org/clinvar/179353 ^@ NM_015404.3(WHRN):c.19G>C (p.Gly7Arg) http://identifiers.org/clinvar/163407 ^@ NM_000118.3(ENG):c.818C>T (p.Thr273Ile) http://identifiers.org/clinvar/179768 ^@ NM_000368.4(TSC1):c.1251A>G (p.Thr417=) http://identifiers.org/clinvar/165577 ^@ NM_001128228.2(TPRN):c.1929G>A (p.Val643=) http://identifiers.org/clinvar/165579 ^@ NM_001128228.2(TPRN):c.1842_1844delGGA (p.Glu621del) http://identifiers.org/clinvar/178552 ^@ NM_001128228.2(TPRN):c.1743C>T (p.Asn581=) http://identifiers.org/clinvar/180037 ^@ NM_203447.3(DOCK8):c.404+16delT http://identifiers.org/clinvar/163174 ^@ NM_203447.3(DOCK8):c.1238A>G (p.Asn413Ser) http://identifiers.org/clinvar/163163 ^@ NM_012144.3(DNAI1):c.179C>T (p.Ala60Val) http://identifiers.org/clinvar/163162 ^@ NM_012144.3(DNAI1):c.378A>G (p.Glu126=) http://identifiers.org/clinvar/163165 ^@ NM_012144.3(DNAI1):c.1460T>G (p.Val487Gly) http://identifiers.org/clinvar/179328 ^@ NM_012144.3(DNAI1):c.1611C>T (p.Asp537=) http://identifiers.org/clinvar/178767 ^@ NM_203447.3(DOCK8):c.3022C>T (p.Arg1008Trp) http://identifiers.org/clinvar/178768 ^@ NM_203447.3(DOCK8):c.3826G>T (p.Val1276Leu) http://identifiers.org/clinvar/178770 ^@ NM_203447.3(DOCK8):c.4491C= (p.Phe1497=) http://identifiers.org/clinvar/179348 ^@ NC_000010.11:g.(?_71731987)_(71734281_?)del http://identifiers.org/clinvar/179491 ^@ NM_001142769.1(PCDH15):c.5349T>C (p.Ser1783=) http://identifiers.org/clinvar/164886 ^@ NM_001142769.1(PCDH15):c.5113_5115delGAA (p.Glu1705del) http://identifiers.org/clinvar/178515 ^@ NM_001142769.1(PCDH15):c.4864A>G (p.Ser1622Gly) http://identifiers.org/clinvar/178516 ^@ NM_001142769.1(PCDH15):c.4596C>T (p.Ile1532=) http://identifiers.org/clinvar/178517 ^@ NM_001142770.1(PCDH15):c.4408A>G (p.Arg1470Gly) http://identifiers.org/clinvar/177747 ^@ NM_033056.3(PCDH15):c.5557A>C (p.Met1853Leu) http://identifiers.org/clinvar/179941 ^@ NM_033056.3(PCDH15):c.5422C>A (p.Pro1808Thr) http://identifiers.org/clinvar/164898 ^@ NM_033056.3(PCDH15):c.5358C>A (p.Ile1786=) http://identifiers.org/clinvar/179769 ^@ NM_033056.3(PCDH15):c.5349T>G (p.Pro1783=) http://identifiers.org/clinvar/164902 ^@ NM_033056.3(PCDH15):c.5334T>C (p.Cys1778=) http://identifiers.org/clinvar/164904 ^@ NM_033056.3(PCDH15):c.5189T>A (p.Ile1730Asn) http://identifiers.org/clinvar/178519 ^@ NM_033056.3(PCDH15):c.4974A>C (p.Ser1658=) http://identifiers.org/clinvar/179258 ^@ NM_033056.3(PCDH15):c.4367+8G>A http://identifiers.org/clinvar/178521 ^@ NM_033056.3(PCDH15):c.3724G>A (p.Val1242Met) http://identifiers.org/clinvar/164912 ^@ NM_033056.3(PCDH15):c.3501+13A>G http://identifiers.org/clinvar/164914 ^@ NM_033056.3(PCDH15):c.2884C>T (p.Arg962Cys) http://identifiers.org/clinvar/179388 ^@ NM_033056.3(PCDH15):c.2721T>G (p.Pro907=) http://identifiers.org/clinvar/178628 ^@ NM_033056.3(PCDH15):c.2435T>C (p.Ile812Thr) http://identifiers.org/clinvar/164919 ^@ NM_033056.3(PCDH15):c.2290C>T (p.Arg764Cys) http://identifiers.org/clinvar/164921 ^@ NM_033056.3(PCDH15):c.2102C>T (p.Ala701Val) http://identifiers.org/clinvar/179087 ^@ NM_033056.3(PCDH15):c.1998-13G>A http://identifiers.org/clinvar/177779 ^@ NM_033056.3(PCDH15):c.1590+20A= http://identifiers.org/clinvar/179327 ^@ NC_000011.10:g.(?_77212952)_(77214696_?)del http://identifiers.org/clinvar/179727 ^@ NM_000218.2(KCNQ1):c.1794+12C>G http://identifiers.org/clinvar/163744 ^@ NM_000218.2(KCNQ1):c.1800G>A (p.Thr600=) http://identifiers.org/clinvar/177888 ^@ NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) http://identifiers.org/clinvar/179534 ^@ NM_000256.3(MYBPC3):c.3800_3802delGCC (p.Arg1267del) http://identifiers.org/clinvar/179227 ^@ NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp) http://identifiers.org/clinvar/177818 ^@ NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter) http://identifiers.org/clinvar/164026 ^@ NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro) http://identifiers.org/clinvar/164028 ^@ NM_000256.3(MYBPC3):c.3685A>G (p.Met1229Val) http://identifiers.org/clinvar/177677 ^@ NM_000256.3(MYBPC3):c.3628-41_3628-17del25 http://identifiers.org/clinvar/177670 ^@ NM_000256.3(MYBPC3):c.3600_3609delCTGCTGTGCT (p.Cys1201Serfs) http://identifiers.org/clinvar/177784 ^@ NM_000256.3(MYBPC3):c.3476_3477delTT (p.Phe1159Tyrfs) http://identifiers.org/clinvar/180012 ^@ NM_000256.3(MYBPC3):c.3469C>G (p.Pro1157Ala) http://identifiers.org/clinvar/177701 ^@ NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) http://identifiers.org/clinvar/177742 ^@ NM_000256.3(MYBPC3):c.3331-1G>A http://identifiers.org/clinvar/164042 ^@ NM_000256.3(MYBPC3):c.3288delG (p.Glu1096Aspfs) http://identifiers.org/clinvar/178063 ^@ NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) http://identifiers.org/clinvar/179881 ^@ NM_000256.3(MYBPC3):c.3190G>A (p.Asp1064Asn) http://identifiers.org/clinvar/164048 ^@ NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) http://identifiers.org/clinvar/164050 ^@ NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) http://identifiers.org/clinvar/164051 ^@ NM_000256.3(MYBPC3):c.2994+2T>C http://identifiers.org/clinvar/164053 ^@ NM_000256.3(MYBPC3):c.2965G>T (p.Glu989Ter) http://identifiers.org/clinvar/177956 ^@ NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) http://identifiers.org/clinvar/164055 ^@ NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) http://identifiers.org/clinvar/177811 ^@ NM_000256.3(MYBPC3):c.2906-2A>G http://identifiers.org/clinvar/164059 ^@ NM_000256.3(MYBPC3):c.2875_2876delAC (p.Thr959Glyfs) http://identifiers.org/clinvar/177660 ^@ NM_000256.3(MYBPC3):c.2780_2781delCA (p.Thr927Ilefs) http://identifiers.org/clinvar/164063 ^@ NM_000256.3(MYBPC3):c.2737+2T>A http://identifiers.org/clinvar/177884 ^@ NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) http://identifiers.org/clinvar/177854 ^@ NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile) http://identifiers.org/clinvar/178064 ^@ NM_000256.3(MYBPC3):c.2603-11C>T http://identifiers.org/clinvar/164071 ^@ NM_000256.3(MYBPC3):c.2556delC (p.Ile852Metfs) http://identifiers.org/clinvar/164073 ^@ NM_000256.3(MYBPC3):c.2517_2538del22 (p.Val840Thrfs) http://identifiers.org/clinvar/164075 ^@ NM_000256.3(MYBPC3):c.2517C>T (p.Gly839=) http://identifiers.org/clinvar/177877 ^@ NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) http://identifiers.org/clinvar/177700 ^@ NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) http://identifiers.org/clinvar/177641 ^@ NM_000256.3(MYBPC3):c.2437A>T (p.Lys813Ter) http://identifiers.org/clinvar/178966 ^@ NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg) http://identifiers.org/clinvar/179435 ^@ NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) http://identifiers.org/clinvar/180082 ^@ NM_000256.3(MYBPC3):c.2308+12C>T http://identifiers.org/clinvar/177814 ^@ NM_000256.3(MYBPC3):c.2149-1G>A http://identifiers.org/clinvar/164091 ^@ NM_000256.3(MYBPC3):c.1999_2000delCTinsG (p.Leu667Aspfs) http://identifiers.org/clinvar/164093 ^@ NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=) http://identifiers.org/clinvar/164095 ^@ NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) http://identifiers.org/clinvar/178851 ^@ NM_000256.3(MYBPC3):c.1790+5G>A http://identifiers.org/clinvar/179549 ^@ NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) http://identifiers.org/clinvar/179895 ^@ NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=) http://identifiers.org/clinvar/177864 ^@ NM_000256.3(MYBPC3):c.1678delG (p.Asp560Thrfs) http://identifiers.org/clinvar/179473 ^@ NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) http://identifiers.org/clinvar/177637 ^@ NM_000256.3(MYBPC3):c.1628delA (p.Lys543Argfs) http://identifiers.org/clinvar/164108 ^@ NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) http://identifiers.org/clinvar/164110 ^@ NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val) http://identifiers.org/clinvar/177699 ^@ NM_000256.3(MYBPC3):c.1513_1515delAAG (p.Lys505del) http://identifiers.org/clinvar/164113 ^@ NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) http://identifiers.org/clinvar/164115 ^@ NM_000256.3(MYBPC3):c.1457+6_1457+25del http://identifiers.org/clinvar/164117 ^@ NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) http://identifiers.org/clinvar/164119 ^@ NM_000256.3(MYBPC3):c.1351+1G>A http://identifiers.org/clinvar/164121 ^@ NM_000256.3(MYBPC3):c.1335G>A (p.Thr445=) http://identifiers.org/clinvar/164123 ^@ NM_000256.3(MYBPC3):c.1264A>C (p.Thr422Pro) http://identifiers.org/clinvar/179988 ^@ NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) http://identifiers.org/clinvar/177796 ^@ NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) http://identifiers.org/clinvar/177686 ^@ NM_000256.3(MYBPC3):c.1090+1G>T http://identifiers.org/clinvar/177850 ^@ NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) http://identifiers.org/clinvar/177706 ^@ NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) http://identifiers.org/clinvar/164135 ^@ NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter) http://identifiers.org/clinvar/177928 ^@ NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) http://identifiers.org/clinvar/177621 ^@ NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp) http://identifiers.org/clinvar/164141 ^@ NM_000256.3(MYBPC3):c.821+3G>C http://identifiers.org/clinvar/164143 ^@ NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser) http://identifiers.org/clinvar/179421 ^@ NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) http://identifiers.org/clinvar/164147 ^@ NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) http://identifiers.org/clinvar/164149 ^@ NM_000256.3(MYBPC3):c.532G>A (p.Val178Met) http://identifiers.org/clinvar/177688 ^@ NM_000256.3(MYBPC3):c.506-13_506-11delCCTinsCCT http://identifiers.org/clinvar/179989 ^@ NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) http://identifiers.org/clinvar/177780 ^@ NM_000256.3(MYBPC3):c.405A>G (p.Lys135=) http://identifiers.org/clinvar/177675 ^@ NM_000256.3(MYBPC3):c.333dupT (p.Glu112Terfs) http://identifiers.org/clinvar/177816 ^@ NM_000256.3(MYBPC3):c.239delCinsGAGG (p.Ala80delinsGlyGly) http://identifiers.org/clinvar/164159 ^@ NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) http://identifiers.org/clinvar/177918 ^@ NM_005343.3(HRAS):c.505C>T (p.Arg169Trp) http://identifiers.org/clinvar/179526 ^@ NM_005343.3(HRAS):c.450+84C>A http://identifiers.org/clinvar/179260 ^@ NM_005343.3(HRAS):c.175_176delGCinsCT (p.Ala59Leu) http://identifiers.org/clinvar/179085 ^@ NM_005343.3(HRAS):c.45C>T (p.Gly15=) http://identifiers.org/clinvar/163690 ^@ NM_005343.3(HRAS):c.35_36delGCinsAA (p.Gly12Glu) http://identifiers.org/clinvar/178773 ^@ NM_016938.4(EFEMP2):c.368-11G>A http://identifiers.org/clinvar/163941 ^@ NM_001145308.4(LRTOMT):c.165C>G (p.His55Gln) http://identifiers.org/clinvar/179792 ^@ NM_001145308.4(LRTOMT):c.358+4A>C http://identifiers.org/clinvar/163944 ^@ NM_001145308.4(LRTOMT):c.844A>C (p.Ile282Leu) http://identifiers.org/clinvar/179106 ^@ NM_000260.3(MYO7A):c.3669C>T (p.Tyr1223=) http://identifiers.org/clinvar/164692 ^@ NM_000260.3(MYO7A):c.3856G>A (p.Ala1286Thr) http://identifiers.org/clinvar/178484 ^@ NM_000260.3(MYO7A):c.3925-8G>A http://identifiers.org/clinvar/164696 ^@ NM_000260.3(MYO7A):c.4153-11C>T http://identifiers.org/clinvar/178485 ^@ NM_000260.3(MYO7A):c.4153-8C>T http://identifiers.org/clinvar/178990 ^@ NM_000260.3(MYO7A):c.4171C>G (p.Leu1391Val) http://identifiers.org/clinvar/178487 ^@ NM_000260.3(MYO7A):c.4222C>G (p.Arg1408Gly) http://identifiers.org/clinvar/164704 ^@ NM_000260.3(MYO7A):c.4441+7C>T http://identifiers.org/clinvar/178625 ^@ NM_000260.3(MYO7A):c.4845C>A (p.Pro1615=) http://identifiers.org/clinvar/178932 ^@ NM_000260.3(MYO7A):c.5095C>G (p.Gln1699Glu) http://identifiers.org/clinvar/179630 ^@ NM_000260.3(MYO7A):c.5172C>G (p.Pro1724=) http://identifiers.org/clinvar/180026 ^@ NM_015404.3(WHRN):c.2060C>T (p.Pro687Leu) http://identifiers.org/clinvar/163047 ^@ NM_015404.3(WHRN):c.1678G>A (p.Ala560Thr) http://identifiers.org/clinvar/179503 ^@ NM_015404.3(WHRN):c.1626+9C>A http://identifiers.org/clinvar/163051 ^@ NM_015404.3(WHRN):c.1148C>A (p.Thr383Asn) http://identifiers.org/clinvar/163176 ^@ NM_203447.3(DOCK8):c.4785+6C>G http://identifiers.org/clinvar/163178 ^@ NM_203447.3(DOCK8):c.5001C>T (p.His1667=) http://identifiers.org/clinvar/178677 ^@ NM_001170416.1(TJP2):c.43G>C (p.Val15Leu) http://identifiers.org/clinvar/165403 ^@ NM_004817.3(TJP2):c.185C>T (p.Thr62Met) http://identifiers.org/clinvar/178640 ^@ NM_004817.3(TJP2):c.342+12G>T http://identifiers.org/clinvar/165406 ^@ NM_004817.3(TJP2):c.698G>A (p.Arg233Gln) http://identifiers.org/clinvar/178813 ^@ NM_004817.3(TJP2):c.1213_1215delATT (p.Ile405del) http://identifiers.org/clinvar/165408 ^@ NM_004817.3(TJP2):c.1350C>T (p.Ser450=) http://identifiers.org/clinvar/178544 ^@ NM_004817.3(TJP2):c.1521-7A>C http://identifiers.org/clinvar/178641 ^@ NM_004817.3(TJP2):c.2131T>C (p.Ser711Pro) http://identifiers.org/clinvar/165415 ^@ NM_004817.3(TJP2):c.2367A>G (p.Ala789=) http://identifiers.org/clinvar/178679 ^@ NM_004817.3(TJP2):c.2691C>T (p.Pro897=) http://identifiers.org/clinvar/178680 ^@ NM_004817.3(TJP2):c.2810T>C (p.Leu937Pro) http://identifiers.org/clinvar/165420 ^@ NM_004817.3(TJP2):c.2859G>T (p.Ser953=) http://identifiers.org/clinvar/180069 ^@ NM_004817.3(TJP2):c.2880+4A>G http://identifiers.org/clinvar/165423 ^@ NM_004817.3(TJP2):c.2970A>G (p.Ala990=) http://identifiers.org/clinvar/178682 ^@ NM_004817.3(TJP2):c.3063C>T (p.Ala1021=) http://identifiers.org/clinvar/180018 ^@ NM_004817.3(TJP2):c.3407+3A>G http://identifiers.org/clinvar/165427 ^@ NM_004817.3(TJP2):c.3557G>A (p.Arg1186Gln) http://identifiers.org/clinvar/178942 ^@ NM_138691.2(TMC1):c.22delA (p.Ile8Serfs) http://identifiers.org/clinvar/165431 ^@ NM_138691.2(TMC1):c.777T>C (p.Tyr259=) http://identifiers.org/clinvar/165433 ^@ NM_138691.2(TMC1):c.1225-8C>T http://identifiers.org/clinvar/178545 ^@ NM_138691.2(TMC1):c.1263A>G (p.Pro421=) http://identifiers.org/clinvar/165437 ^@ NM_138691.2(TMC1):c.1404+4A>G http://identifiers.org/clinvar/165438 ^@ NM_138691.2(TMC1):c.1567-14T>G http://identifiers.org/clinvar/165440 ^@ NM_138691.2(TMC1):c.1992T>G (p.Cys664Trp) http://identifiers.org/clinvar/178546 ^@ NM_138691.2(TMC1):c.2230C>T (p.Arg744Ter) http://identifiers.org/clinvar/165444 ^@ NM_138691.2(TMC1):c.*15G>A http://identifiers.org/clinvar/165381 ^@ NM_004612.3(TGFBR1):c.70_78delGCGGCGGCG (p.Ala24_Ala26del) http://identifiers.org/clinvar/165383 ^@ NM_004612.3(TGFBR1):c.203A>G (p.Asn68Ser) http://identifiers.org/clinvar/177810 ^@ NM_004612.3(TGFBR1):c.415A>G (p.Ile139Val) http://identifiers.org/clinvar/165387 ^@ NM_004612.3(TGFBR1):c.799A>G (p.Asn267Asp) http://identifiers.org/clinvar/180074 ^@ NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del http://identifiers.org/clinvar/164936 ^@ NM_001195263.1(PDZD7):c.2538G>C (p.Gly846=) http://identifiers.org/clinvar/164938 ^@ NM_001195263.1(PDZD7):c.2331_2348del18 (p.Arg779_Ser784del) http://identifiers.org/clinvar/178694 ^@ NM_001195263.1(PDZD7):c.1348_1350delGAG (p.Glu450del) http://identifiers.org/clinvar/164942 ^@ NM_001195263.1(PDZD7):c.971G>A (p.Ser324Asn) http://identifiers.org/clinvar/163681 ^@ NM_024747.5(HPS6):c.150G>A (p.Gly50=) http://identifiers.org/clinvar/163683 ^@ NM_024747.5(HPS6):c.516G>A (p.Gly172=) http://identifiers.org/clinvar/165021 ^@ NM_001134363.2(RBM20):c.131C>A (p.Pro44Gln) http://identifiers.org/clinvar/179531 ^@ NM_001134363.2(RBM20):c.363C>T (p.Asn121=) http://identifiers.org/clinvar/179552 ^@ NM_001134363.2(RBM20):c.536G>A (p.Gly179Asp) http://identifiers.org/clinvar/179494 ^@ NM_001134363.2(RBM20):c.774G>A (p.Ser258=) http://identifiers.org/clinvar/179351 ^@ NM_001134363.2(RBM20):c.1051G>C (p.Asp351His) http://identifiers.org/clinvar/179984 ^@ NM_001134363.2(RBM20):c.1190A>C (p.His397Pro) http://identifiers.org/clinvar/179248 ^@ NM_001134363.2(RBM20):c.1266T>C (p.Phe422=) http://identifiers.org/clinvar/180076 ^@ NM_001134363.2(RBM20):c.1338-11G>A http://identifiers.org/clinvar/179741 ^@ NM_001134363.2(RBM20):c.1497C>T (p.Pro499=) http://identifiers.org/clinvar/179370 ^@ NM_001134363.2(RBM20):c.1761C>T (p.Leu587=) http://identifiers.org/clinvar/180045 ^@ NM_001134363.2(RBM20):c.1958C>T (p.Thr653Ile) http://identifiers.org/clinvar/165040 ^@ NM_001134363.2(RBM20):c.2244T>G (p.Ser748=) http://identifiers.org/clinvar/178820 ^@ NM_001134363.2(RBM20):c.2517T>C (p.Asp839=) http://identifiers.org/clinvar/165044 ^@ NM_001134363.2(RBM20):c.2844T>C (p.Cys948=) http://identifiers.org/clinvar/165046 ^@ NM_001134363.2(RBM20):c.2887A>G (p.Lys963Glu) http://identifiers.org/clinvar/165047 ^@ NM_001134363.2(RBM20):c.3031G>A (p.Ala1011Thr) http://identifiers.org/clinvar/179284 ^@ NM_001134363.2(RBM20):c.3261_3262delCCinsG (p.Ser1087Argfs) http://identifiers.org/clinvar/165236 ^@ NM_007373.3(SHOC2):c.-179T>A http://identifiers.org/clinvar/179760 ^@ NM_007373.3(SHOC2):c.170C>T (p.Ser57Phe) http://identifiers.org/clinvar/162767 ^@ NM_004281.3(BAG3):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/162769 ^@ NM_004281.3(BAG3):c.72delC (p.Gly25Aspfs) http://identifiers.org/clinvar/179530 ^@ NM_004281.3(BAG3):c.114C>T (p.Phe38=) http://identifiers.org/clinvar/178006 ^@ NM_004281.3(BAG3):c.187C>G (p.Pro63Ala) http://identifiers.org/clinvar/178007 ^@ NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) http://identifiers.org/clinvar/162776 ^@ NM_004281.3(BAG3):c.400T>A (p.Ser134Thr) http://identifiers.org/clinvar/162777 ^@ NM_004281.3(BAG3):c.471G>A (p.Ala157=) http://identifiers.org/clinvar/179009 ^@ NM_004281.3(BAG3):c.653G>A (p.Arg218Gln) http://identifiers.org/clinvar/162779 ^@ NM_004281.3(BAG3):c.781C>T (p.Arg261Trp) http://identifiers.org/clinvar/162781 ^@ NM_004281.3(BAG3):c.910-10C>G http://identifiers.org/clinvar/162782 ^@ NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) http://identifiers.org/clinvar/162784 ^@ NM_004281.3(BAG3):c.1240G>A (p.Glu414Lys) http://identifiers.org/clinvar/179333 ^@ NM_004281.3(BAG3):c.1344C>T (p.Asp448=) http://identifiers.org/clinvar/178009 ^@ NM_004281.3(BAG3):c.1587C>T (p.Ala529=) http://identifiers.org/clinvar/162788 ^@ NM_004281.3(BAG3):c.1674G>A (p.Ala558=) http://identifiers.org/clinvar/164734 ^@ NM_006393.2(NEBL):c.2913C>T (p.Asp971=) http://identifiers.org/clinvar/178093 ^@ NM_006393.2(NEBL):c.2685C>T (p.Asp895=) http://identifiers.org/clinvar/179598 ^@ NM_006393.2(NEBL):c.2485G>A (p.Val829Met) http://identifiers.org/clinvar/164740 ^@ NM_006393.2(NEBL):c.2445G>A (p.Val815=) http://identifiers.org/clinvar/178094 ^@ NM_006393.2(NEBL):c.2398G>A (p.Val800Ile) http://identifiers.org/clinvar/164744 ^@ NM_006393.2(NEBL):c.2148+4T>C http://identifiers.org/clinvar/179169 ^@ NM_006393.2(NEBL):c.1963-3C>T http://identifiers.org/clinvar/178095 ^@ NM_006393.2(NEBL):c.1954A>C (p.Ile652Leu) http://identifiers.org/clinvar/178096 ^@ NM_006393.2(NEBL):c.1837C>T (p.Arg613Ter) http://identifiers.org/clinvar/179515 ^@ NM_006393.2(NEBL):c.1617delC (p.Ser539Argfs) http://identifiers.org/clinvar/164752 ^@ NM_006393.2(NEBL):c.1450-9T>G http://identifiers.org/clinvar/164754 ^@ NM_006393.2(NEBL):c.1269A>G (p.Lys423=) http://identifiers.org/clinvar/178098 ^@ NM_006393.2(NEBL):c.1108C>A (p.Gln370Lys) http://identifiers.org/clinvar/164756 ^@ NM_006393.2(NEBL):c.1008+8C>G http://identifiers.org/clinvar/164758 ^@ NM_006393.2(NEBL):c.994G>A (p.Val332Ile) http://identifiers.org/clinvar/179846 ^@ NM_006393.2(NEBL):c.625G>T (p.Ala209Ser) http://identifiers.org/clinvar/164763 ^@ NM_006393.2(NEBL):c.599G>C (p.Gly200Ala) http://identifiers.org/clinvar/179906 ^@ NM_006393.2(NEBL):c.480+10C>A http://identifiers.org/clinvar/178101 ^@ NM_006393.2(NEBL):c.267C>G (p.Tyr89Ter) http://identifiers.org/clinvar/178827 ^@ NM_006393.2(NEBL):c.255T>C (p.Ser85=) http://identifiers.org/clinvar/164769 ^@ NM_006393.2(NEBL):c.191A>G (p.Lys64Arg) http://identifiers.org/clinvar/164771 ^@ NM_006393.2(NEBL):c.82-4A>G http://identifiers.org/clinvar/164773 ^@ NM_213569.2(NEBL):c.357T>C (p.Asn119=) http://identifiers.org/clinvar/164776 ^@ NM_213569.2(NEBL):c.165-6C>G http://identifiers.org/clinvar/164775 ^@ NM_213569.2(NEBL):c.70-5dupT http://identifiers.org/clinvar/164779 ^@ NM_213569.2(NEBL):c.65A>T (p.Asp22Val) http://identifiers.org/clinvar/164603 ^@ NM_017433.4(MYO3A):c.177C>T (p.Asp59=) http://identifiers.org/clinvar/178460 ^@ NM_017433.4(MYO3A):c.546G>T (p.Arg182=) http://identifiers.org/clinvar/178461 ^@ NM_017433.4(MYO3A):c.585+4A>T http://identifiers.org/clinvar/178622 ^@ NM_017433.4(MYO3A):c.949G>C (p.Ala317Pro) http://identifiers.org/clinvar/178462 ^@ NM_017433.4(MYO3A):c.1052A>C (p.Glu351Ala) http://identifiers.org/clinvar/178459 ^@ NM_017433.4(MYO3A):c.1242A>T (p.Gly414=) http://identifiers.org/clinvar/178464 ^@ NM_017433.4(MYO3A):c.1500G>A (p.Ala500=) http://identifiers.org/clinvar/180105 ^@ NM_017433.4(MYO3A):c.1725C>G (p.Ser575=) http://identifiers.org/clinvar/164617 ^@ NM_017433.4(MYO3A):c.1971T>C (p.Thr657=) http://identifiers.org/clinvar/164620 ^@ NM_017433.4(MYO3A):c.2275A>T (p.Asn759Tyr) http://identifiers.org/clinvar/179937 ^@ NM_017433.4(MYO3A):c.2625G>C (p.Leu875=) http://identifiers.org/clinvar/164623 ^@ NM_017433.4(MYO3A):c.2849G>A (p.Arg950His) http://identifiers.org/clinvar/178466 ^@ NM_017433.4(MYO3A):c.3028G>A (p.Glu1010Lys) http://identifiers.org/clinvar/178467 ^@ NM_017433.4(MYO3A):c.3352A>G (p.Thr1118Ala) http://identifiers.org/clinvar/178468 ^@ NM_017433.4(MYO3A):c.3538G>A (p.Glu1180Lys) http://identifiers.org/clinvar/178470 ^@ NM_017433.4(MYO3A):c.3585G>T (p.Val1195=) http://identifiers.org/clinvar/164629 ^@ NM_017433.4(MYO3A):c.4335A>G (p.Lys1445=) http://identifiers.org/clinvar/179176 ^@ NM_017433.4(MYO3A):c.4567C>G (p.Arg1523Gly) http://identifiers.org/clinvar/167589 ^@ NM_020630.4(RET):c.135G= (p.Ala45=) http://identifiers.org/clinvar/164926 ^@ NM_033056.3(PCDH15):c.1590+15_1590+19delAATAT http://identifiers.org/clinvar/164928 ^@ NM_033056.3(PCDH15):c.1195A>G (p.Ser399Gly) http://identifiers.org/clinvar/178522 ^@ NM_033056.3(PCDH15):c.942A>G (p.Gln314=) http://identifiers.org/clinvar/164931 ^@ NM_033056.3(PCDH15):c.809T>G (p.Leu270Arg) http://identifiers.org/clinvar/164933 ^@ NM_033056.3(PCDH15):c.709C>T (p.Arg237Cys) http://identifiers.org/clinvar/179459 ^@ NM_033056.3(PCDH15):c.679C>T (p.Arg227Cys) http://identifiers.org/clinvar/179972 ^@ NM_033056.3(PCDH15):c.161C>T (p.Thr54Ile) http://identifiers.org/clinvar/162864 ^@ NM_022124.5(CDH23):c.-1C>T http://identifiers.org/clinvar/162865 ^@ NM_022124.5(CDH23):c.325G>A (p.Asp109Asn) http://identifiers.org/clinvar/178884 ^@ NM_022124.5(CDH23):c.367G>A (p.Gly123Arg) http://identifiers.org/clinvar/179993 ^@ NM_022124.5(CDH23):c.429+9C>A http://identifiers.org/clinvar/178294 ^@ NM_022124.5(CDH23):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/178842 ^@ NM_022124.5(CDH23):c.754-3dupC http://identifiers.org/clinvar/162875 ^@ NM_022124.5(CDH23):c.856C>T (p.Leu286=) http://identifiers.org/clinvar/178297 ^@ NM_022124.5(CDH23):c.945+12G>A http://identifiers.org/clinvar/179109 ^@ NM_022124.5(CDH23):c.1089C>T (p.Val363=) http://identifiers.org/clinvar/162880 ^@ NM_052836.3(CDH23):c.1301A>G (p.Asn434Ser) http://identifiers.org/clinvar/178675 ^@ NM_022124.5(CDH23):c.1369C>T (p.Arg457Trp) http://identifiers.org/clinvar/178299 ^@ NM_022124.5(CDH23):c.1450-4G>A http://identifiers.org/clinvar/162886 ^@ NM_022124.5(CDH23):c.1545_1547delCAT (p.Ile515del) http://identifiers.org/clinvar/177725 ^@ NM_022124.5(CDH23):c.1745G>A (p.Arg582Gln) http://identifiers.org/clinvar/162890 ^@ NM_022124.5(CDH23):c.2059+6G>A http://identifiers.org/clinvar/162892 ^@ NM_022124.5(CDH23):c.2112C>T (p.Tyr704=) http://identifiers.org/clinvar/162894 ^@ NM_022124.5(CDH23):c.2236G>A (p.Val746Ile) http://identifiers.org/clinvar/177726 ^@ NM_022124.5(CDH23):c.2316T= (p.Asn772=) http://identifiers.org/clinvar/177727 ^@ NM_022124.5(CDH23):c.2388T= (p.Asp796=) http://identifiers.org/clinvar/178601 ^@ NM_022124.5(CDH23):c.2865C>T (p.Arg955=) http://identifiers.org/clinvar/179854 ^@ NM_001171931.1(CDH23):c.3028C>A (p.Arg1010Ser) http://identifiers.org/clinvar/178300 ^@ NM_022124.5(CDH23):c.3162C>G (p.Thr1054=) http://identifiers.org/clinvar/162905 ^@ NM_022124.5(CDH23):c.3230C>T (p.Pro1077Leu) http://identifiers.org/clinvar/162907 ^@ NM_022124.5(CDH23):c.3503G>A (p.Arg1168Gln) http://identifiers.org/clinvar/162909 ^@ NM_001171930.1(CDH23):c.3869C>T (p.Pro1290Leu) http://identifiers.org/clinvar/177728 ^@ NM_022124.5(CDH23):c.4051A= (p.Asn1351=) http://identifiers.org/clinvar/178602 ^@ NM_022124.5(CDH23):c.4203C>T (p.Thr1401=) http://identifiers.org/clinvar/179731 ^@ NM_022124.5(CDH23):c.4405A>G (p.Ile1469Val) http://identifiers.org/clinvar/179715 ^@ NM_022124.5(CDH23):c.4512C>G (p.Thr1504=) http://identifiers.org/clinvar/162912 ^@ NM_022124.5(CDH23):c.4664G>A (p.Arg1555His) http://identifiers.org/clinvar/179237 ^@ NM_022124.5(CDH23):c.4704C>T (p.Thr1568=) http://identifiers.org/clinvar/178304 ^@ NM_022124.5(CDH23):c.4875G>A (p.Val1625=) http://identifiers.org/clinvar/162916 ^@ NM_022124.5(CDH23):c.5022C>T (p.Ile1674=) http://identifiers.org/clinvar/178306 ^@ NM_022124.5(CDH23):c.5067+15G>A http://identifiers.org/clinvar/178307 ^@ NM_022124.5(CDH23):c.5481G>T (p.Gly1827=) http://identifiers.org/clinvar/179620 ^@ NM_022124.5(CDH23):c.5712+9T>C http://identifiers.org/clinvar/179880 ^@ NM_022124.5(CDH23):c.5924-6G>T http://identifiers.org/clinvar/179622 ^@ NM_022124.5(CDH23):c.6050-10C>T http://identifiers.org/clinvar/179352 ^@ NM_022124.5(CDH23):c.6098C>T (p.Ser2033Leu) http://identifiers.org/clinvar/179483 ^@ NM_022124.5(CDH23):c.6367G>A (p.Gly2123Arg) http://identifiers.org/clinvar/162931 ^@ NM_022124.5(CDH23):c.6637G>A (p.Gly2213Ser) http://identifiers.org/clinvar/162933 ^@ NM_022124.5(CDH23):c.6713-8G>A http://identifiers.org/clinvar/179184 ^@ NM_022124.5(CDH23):c.6718G>A (p.Val2240Ile) http://identifiers.org/clinvar/162936 ^@ NM_022124.5(CDH23):c.6846C>T (p.Asn2282=) http://identifiers.org/clinvar/179612 ^@ NM_022124.5(CDH23):c.7161T>C (p.Pro2387=) http://identifiers.org/clinvar/162942 ^@ NM_022124.5(CDH23):c.7517G>A (p.Arg2506Gln) http://identifiers.org/clinvar/179924 ^@ NM_022124.5(CDH23):c.7651C>G (p.Pro2551Ala) http://identifiers.org/clinvar/162945 ^@ NM_022124.5(CDH23):c.7873-2A>T http://identifiers.org/clinvar/178311 ^@ NM_022124.5(CDH23):c.8286G>A (p.Ala2762=) http://identifiers.org/clinvar/177767 ^@ NM_022124.5(CDH23):c.8311G>A (p.Gly2771Ser) http://identifiers.org/clinvar/179385 ^@ NM_022124.5(CDH23):c.8534G>A (p.Arg2845His) http://identifiers.org/clinvar/162948 ^@ NM_022124.5(CDH23):c.8823C>T (p.Asn2941=) http://identifiers.org/clinvar/179835 ^@ NM_022124.5(CDH23):c.9024A>G (p.Glu3008=) http://identifiers.org/clinvar/178312 ^@ NM_022124.5(CDH23):c.9087G>A (p.Gln3029=) http://identifiers.org/clinvar/162952 ^@ NM_022124.5(CDH23):c.9204G>A (p.Ala3068=) http://identifiers.org/clinvar/179266 ^@ NM_022124.5(CDH23):c.9278+15C>T http://identifiers.org/clinvar/178843 ^@ NM_022124.5(CDH23):c.9510+13C>T http://identifiers.org/clinvar/162957 ^@ NM_022124.5(CDH23):c.9617G>A (p.Arg3206His) http://identifiers.org/clinvar/178951 ^@ NM_022124.5(CDH23):c.9738+6C>T http://identifiers.org/clinvar/178316 ^@ NM_022124.5(CDH23):c.10018C>T (p.Leu3340Phe) http://identifiers.org/clinvar/166535 ^@ NM_014000.2(VCL):c.120C>T (p.Leu40=) http://identifiers.org/clinvar/178980 ^@ NM_014000.2(VCL):c.610G>C (p.Val204Leu) http://identifiers.org/clinvar/179912 ^@ NM_014000.2(VCL):c.649A>G (p.Asn217Asp) http://identifiers.org/clinvar/166541 ^@ NM_014000.2(VCL):c.874+7C>G http://identifiers.org/clinvar/166543 ^@ NM_014000.2(VCL):c.1294C>G (p.Leu432Val) http://identifiers.org/clinvar/178281 ^@ NM_014000.2(VCL):c.1348A>C (p.Arg450=) http://identifiers.org/clinvar/179950 ^@ NM_014000.2(VCL):c.1575A>C (p.Glu525Asp) http://identifiers.org/clinvar/166548 ^@ NM_014000.2(VCL):c.1888G>A (p.Ala630Thr) http://identifiers.org/clinvar/166551 ^@ NM_014000.2(VCL):c.2046A>T (p.Leu682Phe) http://identifiers.org/clinvar/166553 ^@ NM_014000.2(VCL):c.2672G>C (p.Gly891Ala) http://identifiers.org/clinvar/166555 ^@ NM_014000.2(VCL):c.2841C>T (p.Asp947=) http://identifiers.org/clinvar/179831 ^@ NM_014000.2(VCL):c.3163C>T (p.Arg1055Ter) http://identifiers.org/clinvar/165197 ^@ NM_001093770.2(SFTPA1):c.231A>G (p.Pro77=) http://identifiers.org/clinvar/165199 ^@ NM_001093770.2(SFTPA1):c.444A>G (p.Thr148=) http://identifiers.org/clinvar/165201 ^@ NM_001093770.2(SFTPA1):c.622C>T (p.Pro208Ser) http://identifiers.org/clinvar/178808 ^@ NM_003019.4(SFTPD):c.918T>C (p.Ala306=) http://identifiers.org/clinvar/165215 ^@ NM_003019.4(SFTPD):c.538A>G (p.Thr180Ala) http://identifiers.org/clinvar/165217 ^@ NM_003019.4(SFTPD):c.297G>A (p.Lys99=) http://identifiers.org/clinvar/165219 ^@ NM_003019.4(SFTPD):c.92T>C (p.Met31Thr) http://identifiers.org/clinvar/179706 ^@ NM_007078.2(LDB3):c.93+1G>T http://identifiers.org/clinvar/178866 ^@ NM_007078.2(LDB3):c.200A>G (p.Asn67Ser) http://identifiers.org/clinvar/177802 ^@ NM_007078.2(LDB3):c.493C>T (p.Arg165Trp) http://identifiers.org/clinvar/178834 ^@ NM_007078.2(LDB3):c.530C>T (p.Ala177Val) http://identifiers.org/clinvar/179653 ^@ NM_007078.2(LDB3):c.656G>A (p.Arg219Gln) http://identifiers.org/clinvar/179951 ^@ NM_001080116.1(LDB3):c.345-5C>T http://identifiers.org/clinvar/179019 ^@ NM_001080116.1(LDB3):c.456G>A (p.Ala152=) http://identifiers.org/clinvar/163836 ^@ NM_007078.2(LDB3):c.714C>T (p.Ala238=) http://identifiers.org/clinvar/179020 ^@ NM_007078.2(LDB3):c.845C>T (p.Thr282Met) http://identifiers.org/clinvar/179065 ^@ NM_007078.2(LDB3):c.860-22_860-12del http://identifiers.org/clinvar/163842 ^@ NM_001080116.1(LDB3):c.756-11_756-10dupCT http://identifiers.org/clinvar/178940 ^@ NM_007078.2(LDB3):c.897-10G>A http://identifiers.org/clinvar/163845 ^@ NM_007078.2(LDB3):c.1036G>A (p.Ala346Thr) http://identifiers.org/clinvar/178060 ^@ NM_007078.2(LDB3):c.1071T>A (p.Pro357=) http://identifiers.org/clinvar/163849 ^@ NM_007078.2(LDB3):c.1607T>C (p.Val536Ala) http://identifiers.org/clinvar/179553 ^@ NM_007078.2(LDB3):c.1774G>C (p.Glu592Gln) http://identifiers.org/clinvar/163852 ^@ NM_007078.2(LDB3):c.1789T>C (p.Tyr597His) http://identifiers.org/clinvar/163854 ^@ NM_007078.2(LDB3):c.1956C>T (p.Asp652=) http://identifiers.org/clinvar/179788 ^@ NM_007078.2(LDB3):c.2164G>A (p.Ala722Thr) http://identifiers.org/clinvar/162746 ^@ NM_014391.2(ANKRD1):c.838A>G (p.Ile280Val) http://identifiers.org/clinvar/162748 ^@ NM_014391.2(ANKRD1):c.346-18_346-9delTATTTATTTT http://identifiers.org/clinvar/162750 ^@ NM_014391.2(ANKRD1):c.234A>T (p.Arg78Ser) http://identifiers.org/clinvar/162751 ^@ NM_014391.2(ANKRD1):c.140C>T (p.Thr47Ile) http://identifiers.org/clinvar/242623 ^@ NM_000771.3(CYP2C9):c.1075A= (p.Ile359=) http://identifiers.org/clinvar/163664 ^@ NM_000195.4(HPS1):c.1397+8G>T http://identifiers.org/clinvar/167185 ^@ NM_000195.4(HPS1):c.636C>T (p.Leu212=) http://identifiers.org/clinvar/163666 ^@ NM_000195.4(HPS1):c.297C>T (p.Thr99=) http://identifiers.org/clinvar/178687 ^@ NM_003002.3(SDHD):c.*(?_286)_*(387_?)del http://identifiers.org/clinvar/179346 ^@ NM_002906.3(RDX):c.1410C>A (p.Pro470=) http://identifiers.org/clinvar/165052 ^@ NM_002906.3(RDX):c.1341C>A (p.His447Gln) http://identifiers.org/clinvar/179168 ^@ NM_002906.3(RDX):c.1282A>G (p.Ile428Val) http://identifiers.org/clinvar/178527 ^@ NM_002906.3(RDX):c.778A>G (p.Ile260Val) http://identifiers.org/clinvar/179830 ^@ NM_002906.3(RDX):c.97-10_97-8delTGT http://identifiers.org/clinvar/179088 ^@ NM_003002.3(SDHD):c.*428A>G http://identifiers.org/clinvar/179790 ^@ NM_005188.3(CBL):c.12C>T (p.Asn4=) http://identifiers.org/clinvar/162830 ^@ NM_005188.3(CBL):c.801C>G (p.Gly267=) http://identifiers.org/clinvar/162832 ^@ NM_005188.3(CBL):c.1129A>G (p.Thr377Ala) http://identifiers.org/clinvar/162834 ^@ NM_005188.3(CBL):c.1359A>C (p.Pro453=) http://identifiers.org/clinvar/179116 ^@ NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) http://identifiers.org/clinvar/178012 ^@ NM_005188.3(CBL):c.2359C>T (p.Arg787Cys) http://identifiers.org/clinvar/179381 ^@ NM_005422.2(TECTA):c.327C>T (p.Gly109=) http://identifiers.org/clinvar/165342 ^@ NM_005422.2(TECTA):c.601G>T (p.Gly201Cys) http://identifiers.org/clinvar/178532 ^@ NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) http://identifiers.org/clinvar/178531 ^@ NM_005422.2(TECTA):c.915C>T (p.Cys305=) http://identifiers.org/clinvar/177979 ^@ NM_005422.2(TECTA):c.1291A>T (p.Thr431Ser) http://identifiers.org/clinvar/178638 ^@ NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) http://identifiers.org/clinvar/178535 ^@ NM_005422.2(TECTA):c.1502C>T (p.Ser501Phe) http://identifiers.org/clinvar/165353 ^@ NM_005422.2(TECTA):c.1812C>T (p.Ser604=) http://identifiers.org/clinvar/178536 ^@ NM_005422.2(TECTA):c.2299C>A (p.Arg767=) http://identifiers.org/clinvar/165355 ^@ NM_005422.2(TECTA):c.2378A>G (p.Gln793Arg) http://identifiers.org/clinvar/165357 ^@ NM_005422.2(TECTA):c.2739C>T (p.Gly913=) http://identifiers.org/clinvar/165358 ^@ NM_005422.2(TECTA):c.2827C>A (p.Leu943Met) http://identifiers.org/clinvar/165360 ^@ NM_005422.2(TECTA):c.3406G>C (p.Asp1136His) http://identifiers.org/clinvar/178822 ^@ NM_005422.2(TECTA):c.3769G>A (p.Gly1257Ser) http://identifiers.org/clinvar/165363 ^@ NM_005422.2(TECTA):c.4067G>A (p.Gly1356Glu) http://identifiers.org/clinvar/165364 ^@ NM_005422.2(TECTA):c.4384C>T (p.Arg1462Cys) http://identifiers.org/clinvar/180103 ^@ NM_005422.2(TECTA):c.4481T>C (p.Val1494Ala) http://identifiers.org/clinvar/165366 ^@ NM_005422.2(TECTA):c.4527C>G (p.Cys1509Trp) http://identifiers.org/clinvar/179688 ^@ NM_005422.2(TECTA):c.4690-15T>C http://identifiers.org/clinvar/178541 ^@ NM_005422.2(TECTA):c.5160C>T (p.Asp1720=) http://identifiers.org/clinvar/165368 ^@ NM_005422.2(TECTA):c.5383+3G>A http://identifiers.org/clinvar/165370 ^@ NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) http://identifiers.org/clinvar/165372 ^@ NM_005422.2(TECTA):c.5955C>A (p.Thr1985=) http://identifiers.org/clinvar/165373 ^@ NM_005422.2(TECTA):c.6155G>A (p.Cys2052Tyr) http://identifiers.org/clinvar/165374 ^@ NM_005422.2(TECTA):c.6346G>C (p.Glu2116Gln) http://identifiers.org/clinvar/163991 ^@ NM_002458.2(MUC5B):c.151C>T (p.Arg51Trp) http://identifiers.org/clinvar/163993 ^@ NM_002458.2(MUC5B):c.442G>A (p.Val148Ile) http://identifiers.org/clinvar/178783 ^@ NM_002458.2(MUC5B):c.723G>A (p.Thr241=) http://identifiers.org/clinvar/178785 ^@ NM_002458.2(MUC5B):c.933C>T (p.His311=) http://identifiers.org/clinvar/178787 ^@ NM_002458.2(MUC5B):c.1103-11G>C http://identifiers.org/clinvar/163995 ^@ NM_002458.2(MUC5B):c.1596G>C (p.Leu532=) http://identifiers.org/clinvar/165578 ^@ NM_001128228.2(TPRN):c.1845_1847delAGA (p.Glu621del) http://identifiers.org/clinvar/179337 ^@ NM_001128228.2(TPRN):c.1839_1844delGGAGGA (p.Glu620_Glu621del) http://identifiers.org/clinvar/178766 ^@ NM_203447.3(DOCK8):c.289C>A (p.Pro97Thr) http://identifiers.org/clinvar/163173 ^@ NM_203447.3(DOCK8):c.709G>A (p.Glu237Lys) http://identifiers.org/clinvar/178761 ^@ NM_012144.3(DNAI1):c.22G>T (p.Ala8Ser) http://identifiers.org/clinvar/178762 ^@ NM_012144.3(DNAI1):c.356G>A (p.Arg119Gln) http://identifiers.org/clinvar/163164 ^@ NM_012144.3(DNAI1):c.1003G>A (p.Val335Ile) http://identifiers.org/clinvar/178763 ^@ NM_012144.3(DNAI1):c.1604C>A (p.Thr535Asn) http://identifiers.org/clinvar/163166 ^@ NM_012144.3(DNAI1):c.1825A>T (p.Ile609Leu) http://identifiers.org/clinvar/163175 ^@ NM_203447.3(DOCK8):c.3573C>T (p.Ser1191=) http://identifiers.org/clinvar/178769 ^@ NM_203447.3(DOCK8):c.4107C>G (p.Leu1369=) http://identifiers.org/clinvar/167590 ^@ NM_020630.4(RET):c.2307T= (p.Leu769=) http://identifiers.org/clinvar/178960 ^@ NM_001142769.1(PCDH15):c.5328delGinsAGT (p.Lys1777Valfs) http://identifiers.org/clinvar/179495 ^@ NM_001142769.1(PCDH15):c.4927T>C (p.Ser1643Pro) http://identifiers.org/clinvar/178900 ^@ NM_001142769.1(PCDH15):c.4732C>T (p.Arg1578Cys) http://identifiers.org/clinvar/178678 ^@ NM_001142769.1(PCDH15):c.4562A>C (p.Glu1521Ala) http://identifiers.org/clinvar/178518 ^@ NM_033056.3(PCDH15):c.5614A>G (p.Lys1872Glu) http://identifiers.org/clinvar/164893 ^@ NM_033056.3(PCDH15):c.5439A>C (p.Pro1813=) http://identifiers.org/clinvar/164897 ^@ NM_033056.3(PCDH15):c.5397C>T (p.Ser1799=) http://identifiers.org/clinvar/179751 ^@ NM_033056.3(PCDH15):c.5352T>A (p.Pro1784=) http://identifiers.org/clinvar/179750 ^@ NM_033056.3(PCDH15):c.5280_5342del63 (p.Ala1761_Pro1781del) http://identifiers.org/clinvar/164903 ^@ NM_033056.3(PCDH15):c.5269_5277delTCTCCTCCT (p.Ser1757_Pro1759del) http://identifiers.org/clinvar/179357 ^@ NM_033056.3(PCDH15):c.5048T>G (p.Leu1683Arg) http://identifiers.org/clinvar/178520 ^@ NM_033056.3(PCDH15):c.4733T>C (p.Val1578Ala) http://identifiers.org/clinvar/179321 ^@ NM_033056.3(PCDH15):c.3807-6T>G http://identifiers.org/clinvar/179543 ^@ NM_033056.3(PCDH15):c.3502-14delT http://identifiers.org/clinvar/179960 ^@ NM_033056.3(PCDH15):c.3451G>A (p.Gly1151Arg) http://identifiers.org/clinvar/164915 ^@ NM_033056.3(PCDH15):c.2769T>C (p.Pro923=) http://identifiers.org/clinvar/178965 ^@ NM_033056.3(PCDH15):c.2538C>T (p.Val846=) http://identifiers.org/clinvar/177915 ^@ NM_033056.3(PCDH15):c.2379T>C (p.Asp793=) http://identifiers.org/clinvar/164920 ^@ NM_033056.3(PCDH15):c.2194G>A (p.Ala732Thr) http://identifiers.org/clinvar/164922 ^@ NM_033056.3(PCDH15):c.2051A>G (p.Tyr684Cys) http://identifiers.org/clinvar/177724 ^@ NM_033056.3(PCDH15):c.1927C>T (p.Arg643Ter) http://identifiers.org/clinvar/162789 ^@ NM_170734.3(BDNF):c.16G>A (p.Glu6Lys) http://identifiers.org/clinvar/163743 ^@ NM_000218.2(KCNQ1):c.1795-5C>T http://identifiers.org/clinvar/177853 ^@ NM_000256.3(MYBPC3):c.*6_*16delCTGGCTCCTGG http://identifiers.org/clinvar/179135 ^@ NM_000256.3(MYBPC3):c.3814+14G>A http://identifiers.org/clinvar/164021 ^@ NM_000256.3(MYBPC3):c.3776delA (p.Gln1259Argfs) http://identifiers.org/clinvar/164023 ^@ NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) http://identifiers.org/clinvar/177653 ^@ NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) http://identifiers.org/clinvar/177899 ^@ NM_000256.3(MYBPC3):c.3690_3691delCA (p.Phe1230Leufs) http://identifiers.org/clinvar/179527 ^@ NM_000256.3(MYBPC3):c.3644dupT (p.Lys1216Glnfs) http://identifiers.org/clinvar/164032 ^@ NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) http://identifiers.org/clinvar/164029 ^@ NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr) http://identifiers.org/clinvar/177812 ^@ NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile) http://identifiers.org/clinvar/177689 ^@ NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) http://identifiers.org/clinvar/177680 ^@ NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter) http://identifiers.org/clinvar/178872 ^@ NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=) http://identifiers.org/clinvar/164043 ^@ NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) http://identifiers.org/clinvar/177837 ^@ NM_000256.3(MYBPC3):c.3190+1G>A http://identifiers.org/clinvar/164047 ^@ NM_000256.3(MYBPC3):c.3166dupG (p.Ala1056Glyfs) http://identifiers.org/clinvar/164049 ^@ NM_000256.3(MYBPC3):c.3089_3101delTGTTCATCCGGGC (p.Leu1030Profs) http://identifiers.org/clinvar/177622 ^@ NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) http://identifiers.org/clinvar/164052 ^@ NM_000256.3(MYBPC3):c.2993A>G (p.Gln998Arg) http://identifiers.org/clinvar/179550 ^@ NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val) http://identifiers.org/clinvar/164054 ^@ NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His) http://identifiers.org/clinvar/177832 ^@ NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) http://identifiers.org/clinvar/164058 ^@ NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) http://identifiers.org/clinvar/164060 ^@ NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp) http://identifiers.org/clinvar/177835 ^@ NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) http://identifiers.org/clinvar/177766 ^@ NM_000256.3(MYBPC3):c.2737+1G>C http://identifiers.org/clinvar/177949 ^@ NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) http://identifiers.org/clinvar/177870 ^@ NM_000256.3(MYBPC3):c.2604_2605delTCinsA (p.Ser871Alafs) http://identifiers.org/clinvar/164070 ^@ NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) http://identifiers.org/clinvar/177852 ^@ NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter) http://identifiers.org/clinvar/177830 ^@ NM_000256.3(MYBPC3):c.2533C>T (p.Arg845Cys) http://identifiers.org/clinvar/179456 ^@ NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln) http://identifiers.org/clinvar/164078 ^@ NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) http://identifiers.org/clinvar/179986 ^@ NM_000256.3(MYBPC3):c.2439G>C (p.Lys813Asn) http://identifiers.org/clinvar/177640 ^@ NM_000256.3(MYBPC3):c.2436G>T (p.Lys812Asn) http://identifiers.org/clinvar/177862 ^@ NM_000256.3(MYBPC3):c.2394dupT (p.Gly799Trpfs) http://identifiers.org/clinvar/180013 ^@ NM_000256.3(MYBPC3):c.2309-21G>A http://identifiers.org/clinvar/164086 ^@ NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) http://identifiers.org/clinvar/177901 ^@ NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp) http://identifiers.org/clinvar/164090 ^@ NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) http://identifiers.org/clinvar/177639 ^@ NM_000256.3(MYBPC3):c.1950C>G (p.Asp650Glu) http://identifiers.org/clinvar/177705 ^@ NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) http://identifiers.org/clinvar/164096 ^@ NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) http://identifiers.org/clinvar/164098 ^@ NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) http://identifiers.org/clinvar/164100 ^@ NM_000256.3(MYBPC3):c.1776G>A (p.Val592=) http://identifiers.org/clinvar/164102 ^@ NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr) http://identifiers.org/clinvar/164105 ^@ NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met) http://identifiers.org/clinvar/164107 ^@ NM_000256.3(MYBPC3):c.1624+2T>C http://identifiers.org/clinvar/164109 ^@ NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) http://identifiers.org/clinvar/164111 ^@ NM_000256.3(MYBPC3):c.1535T>C (p.Leu512Pro) http://identifiers.org/clinvar/164112 ^@ NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu) http://identifiers.org/clinvar/164114 ^@ NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) http://identifiers.org/clinvar/164116 ^@ NM_000256.3(MYBPC3):c.1457+5G>C http://identifiers.org/clinvar/164118 ^@ NM_000256.3(MYBPC3):c.1357_1358delCC (p.Pro453Cysfs) http://identifiers.org/clinvar/177685 ^@ NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser) http://identifiers.org/clinvar/179821 ^@ NM_000256.3(MYBPC3):c.1330delA (p.Ser444Alafs) http://identifiers.org/clinvar/178934 ^@ NM_000256.3(MYBPC3):c.1227-10C>T http://identifiers.org/clinvar/164126 ^@ NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) http://identifiers.org/clinvar/164128 ^@ NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) http://identifiers.org/clinvar/177668 ^@ NM_000256.3(MYBPC3):c.1090+1G>A http://identifiers.org/clinvar/177902 ^@ NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) http://identifiers.org/clinvar/164134 ^@ NM_000256.3(MYBPC3):c.993dupT (p.Glu332Terfs) http://identifiers.org/clinvar/164136 ^@ NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) http://identifiers.org/clinvar/178898 ^@ NM_000256.3(MYBPC3):c.853G>A (p.Asp285Asn) http://identifiers.org/clinvar/164140 ^@ NM_000256.3(MYBPC3):c.833delG (p.Gly278Glufs) http://identifiers.org/clinvar/178946 ^@ NM_000256.3(MYBPC3):c.821+1G>C http://identifiers.org/clinvar/177910 ^@ NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) http://identifiers.org/clinvar/164146 ^@ NM_000256.3(MYBPC3):c.588G>C (p.Trp196Cys) http://identifiers.org/clinvar/164148 ^@ NM_000256.3(MYBPC3):c.533delT (p.Val178Glyfs) http://identifiers.org/clinvar/179848 ^@ NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala) http://identifiers.org/clinvar/164151 ^@ NM_000256.3(MYBPC3):c.505+5G>C http://identifiers.org/clinvar/179709 ^@ NM_000256.3(MYBPC3):c.466dupC (p.Leu156Profs) http://identifiers.org/clinvar/164155 ^@ NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter) http://identifiers.org/clinvar/179554 ^@ NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) http://identifiers.org/clinvar/177638 ^@ NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp) http://identifiers.org/clinvar/164160 ^@ NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln) http://identifiers.org/clinvar/179859 ^@ NM_001318054.1(HRAS):c.208C>T (p.Arg70Cys) http://identifiers.org/clinvar/177861 ^@ NM_005343.3(HRAS):c.418C>T (p.Pro140Ser) http://identifiers.org/clinvar/163689 ^@ NM_005343.3(HRAS):c.112-10C>T http://identifiers.org/clinvar/177957 ^@ NM_005343.3(HRAS):c.36C>A (p.Gly12=) http://identifiers.org/clinvar/178860 ^@ NM_005343.3(HRAS):c.31G>A (p.Ala11Thr) http://identifiers.org/clinvar/163326 ^@ NM_016938.4(EFEMP2):c.276C>T (p.His92=) http://identifiers.org/clinvar/179867 ^@ NM_001145308.4(LRTOMT):c.191T>G (p.Val64Gly) http://identifiers.org/clinvar/179218 ^@ NM_001145308.4(LRTOMT):c.695C>T (p.Ala232Val) http://identifiers.org/clinvar/179208 ^@ NM_000260.3(MYO7A):c.3659C>T (p.Pro1220Leu) http://identifiers.org/clinvar/178283 ^@ NM_000260.3(MYO7A):c.3827C>T (p.Ser1276Leu) http://identifiers.org/clinvar/164693 ^@ NM_000260.3(MYO7A):c.3892G>A (p.Gly1298Arg) http://identifiers.org/clinvar/177723 ^@ NM_000260.3(MYO7A):c.3979G>A (p.Glu1327Lys) http://identifiers.org/clinvar/179432 ^@ NM_000260.3(MYO7A):c.4153-8C>G http://identifiers.org/clinvar/180061 ^@ NM_000260.3(MYO7A):c.4153-7C>A http://identifiers.org/clinvar/178486 ^@ NM_000260.3(MYO7A):c.4195G>C (p.Asp1399His) http://identifiers.org/clinvar/164703 ^@ NM_000260.3(MYO7A):c.4323+12G>A http://identifiers.org/clinvar/164705 ^@ NM_000260.3(MYO7A):c.4488G>A (p.Thr1496=) http://identifiers.org/clinvar/178488 ^@ NM_000260.3(MYO7A):c.4851C>T (p.Pro1617=) http://identifiers.org/clinvar/179936 ^@ NM_000260.3(MYO7A):c.5169-5G>A http://identifiers.org/clinvar/178489 ^@ NM_000260.3(MYO7A):c.5253G>T (p.Pro1751=) http://identifiers.org/clinvar/178492 ^@ NM_000260.3(MYO7A):c.5373C>T (p.Ser1791=) http://identifiers.org/clinvar/178921 ^@ NM_000260.3(MYO7A):c.5464A>C (p.Thr1822Pro) http://identifiers.org/clinvar/178494 ^@ NM_000260.3(MYO7A):c.5495G>A (p.Arg1832Gln) http://identifiers.org/clinvar/179770 ^@ NM_000260.3(MYO7A):c.5857-3C>A http://identifiers.org/clinvar/179745 ^@ NM_000260.3(MYO7A):c.6231dupG (p.Lys2078Glufs) http://identifiers.org/clinvar/178496 ^@ NM_000260.3(MYO7A):c.6247G>A (p.Ala2083Thr) http://identifiers.org/clinvar/162883 ^@ NM_052836.3(CDH23):c.*4_*5delAA http://identifiers.org/clinvar/179509 ^@ NM_022124.5(CDH23):c.1543A>G (p.Ile515Val) http://identifiers.org/clinvar/179505 ^@ NM_022124.5(CDH23):c.1660G>A (p.Val554Ile) http://identifiers.org/clinvar/178301 ^@ NM_022124.5(CDH23):c.1867G>A (p.Val623Ile) http://identifiers.org/clinvar/179166 ^@ NM_022124.5(CDH23):c.2104C>T (p.Arg702Trp) http://identifiers.org/clinvar/162893 ^@ NM_022124.5(CDH23):c.2171G>A (p.Arg724His) http://identifiers.org/clinvar/162895 ^@ NM_022124.5(CDH23):c.2289+6T>G http://identifiers.org/clinvar/178302 ^@ NM_022124.5(CDH23):c.2341G>A (p.Ala781Thr) http://identifiers.org/clinvar/179700 ^@ NM_022124.5(CDH23):c.2500C>T (p.Arg834Cys) http://identifiers.org/clinvar/162900 ^@ NM_022124.5(CDH23):c.2954-14G>A http://identifiers.org/clinvar/162902 ^@ NM_001171931.1(CDH23):c.3110C>T (p.Ala1037Val) http://identifiers.org/clinvar/162904 ^@ NM_022124.5(CDH23):c.3220+15C>T http://identifiers.org/clinvar/179203 ^@ NM_022124.5(CDH23):c.3326C>T (p.Ala1109Val) http://identifiers.org/clinvar/178303 ^@ NM_022124.5(CDH23):c.3580-13C>T http://identifiers.org/clinvar/178685 ^@ NM_022124.5(CDH23):c.4000C>T (p.Arg1334Trp) http://identifiers.org/clinvar/162910 ^@ NM_001171930.1(CDH23):c.4126G>T (p.Ala1376Ser) http://identifiers.org/clinvar/179748 ^@ NM_022124.5(CDH23):c.4276G>A (p.Val1426Ile) http://identifiers.org/clinvar/162911 ^@ NM_022124.5(CDH23):c.4488+7C>T http://identifiers.org/clinvar/179345 ^@ NM_022124.5(CDH23):c.4589C>T (p.Pro1530Leu) http://identifiers.org/clinvar/179073 ^@ NM_022124.5(CDH23):c.4694A>C (p.Tyr1565Ser) http://identifiers.org/clinvar/177729 ^@ NM_022124.5(CDH23):c.4723G= (p.Ala1575=) http://identifiers.org/clinvar/178305 ^@ NM_022124.5(CDH23):c.4892C>T (p.Ala1631Val) http://identifiers.org/clinvar/162917 ^@ NM_022124.5(CDH23):c.5038G>A (p.Val1680Ile) http://identifiers.org/clinvar/162919 ^@ NM_022124.5(CDH23):c.5168G>A (p.Arg1723His) http://identifiers.org/clinvar/179687 ^@ NM_022124.5(CDH23):c.5674G>A (p.Ala1892Thr) http://identifiers.org/clinvar/178308 ^@ NM_022124.5(CDH23):c.5821-13C>T http://identifiers.org/clinvar/178309 ^@ NM_022124.5(CDH23):c.6050-15G>A http://identifiers.org/clinvar/162926 ^@ NM_022124.5(CDH23):c.6091G>A (p.Ala2031Thr) http://identifiers.org/clinvar/179487 ^@ NM_022124.5(CDH23):c.6264C>A (p.Val2088=) http://identifiers.org/clinvar/179395 ^@ NM_022124.5(CDH23):c.6559G>A (p.Ala2187Thr) http://identifiers.org/clinvar/162932 ^@ NM_022124.5(CDH23):c.6655G>A (p.Asp2219Asn) http://identifiers.org/clinvar/162934 ^@ NM_022124.5(CDH23):c.6713G>C (p.Gly2238Ala) http://identifiers.org/clinvar/178310 ^@ NM_022124.5(CDH23):c.6809G>A (p.Arg2270His) http://identifiers.org/clinvar/162937 ^@ NM_022124.5(CDH23):c.6949G>T (p.Ala2317Ser) http://identifiers.org/clinvar/162939 ^@ NM_022124.5(CDH23):c.7176C>T (p.Ile2392=) http://identifiers.org/clinvar/162941 ^@ NM_022124.5(CDH23):c.7463G>A (p.Arg2488His) http://identifiers.org/clinvar/162943 ^@ NM_022124.5(CDH23):c.7552G>A (p.Val2518Met) http://identifiers.org/clinvar/162944 ^@ NM_022124.5(CDH23):c.7660+13C>T http://identifiers.org/clinvar/179282 ^@ NM_022124.5(CDH23):c.7979_7986delACTGGGAG (p.Asp2660Valfs) http://identifiers.org/clinvar/162946 ^@ NM_022124.5(CDH23):c.8290G>A (p.Val2764Met) http://identifiers.org/clinvar/179973 ^@ NM_022124.5(CDH23):c.8533C>T (p.Arg2845Cys) http://identifiers.org/clinvar/162947 ^@ NM_022124.5(CDH23):c.8792A>C (p.Asp2931Ala) http://identifiers.org/clinvar/162949 ^@ NM_022124.5(CDH23):c.8886C>T (p.Asn2962=) http://identifiers.org/clinvar/179230 ^@ NM_022124.5(CDH23):c.9078G>C (p.Arg3026=) http://identifiers.org/clinvar/178313 ^@ NM_022124.5(CDH23):c.9094G>A (p.Asp3032Asn) http://identifiers.org/clinvar/162953 ^@ NM_022124.5(CDH23):c.9278+2dupT http://identifiers.org/clinvar/178314 ^@ NM_022124.5(CDH23):c.9326G>A (p.Arg3109His) http://identifiers.org/clinvar/162956 ^@ NM_022124.5(CDH23):c.9566G>A (p.Arg3189Gln) http://identifiers.org/clinvar/178315 ^@ NM_022124.5(CDH23):c.9629T>C (p.Ile3210Thr) http://identifiers.org/clinvar/178909 ^@ NM_022124.5(CDH23):c.10007C>T (p.Pro3336Leu) http://identifiers.org/clinvar/178317 ^@ NM_022124.5(CDH23):c.10026C>T (p.Asp3342=) http://identifiers.org/clinvar/166536 ^@ NM_014000.2(VCL):c.492T>G (p.Leu164=) http://identifiers.org/clinvar/166538 ^@ NM_014000.2(VCL):c.622+4C>T http://identifiers.org/clinvar/180088 ^@ NM_014000.2(VCL):c.808T>C (p.Leu270=) http://identifiers.org/clinvar/166542 ^@ NM_014000.2(VCL):c.1198G>T (p.Gly400Cys) http://identifiers.org/clinvar/179157 ^@ NM_014000.2(VCL):c.1337C>G (p.Ala446Gly) http://identifiers.org/clinvar/166546 ^@ NM_014000.2(VCL):c.1544-2A>G http://identifiers.org/clinvar/177889 ^@ NM_014000.2(VCL):c.1762C>T (p.Gln588Ter) http://identifiers.org/clinvar/179606 ^@ NM_014000.2(VCL):c.1973T>C (p.Val658Ala) http://identifiers.org/clinvar/166552 ^@ NM_014000.2(VCL):c.2388G= (p.Pro796=) http://identifiers.org/clinvar/166554 ^@ NM_014000.2(VCL):c.2814C= (p.Gly938=) http://identifiers.org/clinvar/166556 ^@ NM_014000.2(VCL):c.3115C>T (p.Gln1039Ter) http://identifiers.org/clinvar/166558 ^@ NM_014000.2(VCL):c.3236T>C (p.Ile1079Thr) http://identifiers.org/clinvar/165198 ^@ NM_001093770.2(SFTPA1):c.316C>G (p.Pro106Ala) http://identifiers.org/clinvar/165200 ^@ NM_001093770.2(SFTPA1):c.597T>C (p.Tyr199=) http://identifiers.org/clinvar/165213 ^@ NM_003019.4(SFTPD):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/165214 ^@ NM_003019.4(SFTPD):c.868T>A (p.Ser290Thr) http://identifiers.org/clinvar/165216 ^@ NM_003019.4(SFTPD):c.367C>G (p.Leu123Val) http://identifiers.org/clinvar/165218 ^@ NM_003019.4(SFTPD):c.135T>C (p.Ser45=) http://identifiers.org/clinvar/180025 ^@ NM_007078.2(LDB3):c.10A>C (p.Ser4Arg) http://identifiers.org/clinvar/179018 ^@ NM_007078.2(LDB3):c.159C>T (p.Asp53=) http://identifiers.org/clinvar/178059 ^@ NM_007078.2(LDB3):c.295C>T (p.Pro99Ser) http://identifiers.org/clinvar/178668 ^@ NM_007078.2(LDB3):c.529dupG (p.Ala177Glyfs) http://identifiers.org/clinvar/163829 ^@ NM_007078.2(LDB3):c.655C>T (p.Arg219Ter) http://identifiers.org/clinvar/163831 ^@ NM_007078.2(LDB3):c.689+9C>T http://identifiers.org/clinvar/179926 ^@ NM_001080116.1(LDB3):c.415G>A (p.Glu139Lys) http://identifiers.org/clinvar/163835 ^@ NM_007078.2(LDB3):c.690-4661G>A http://identifiers.org/clinvar/179323 ^@ NM_007078.2(LDB3):c.733G>A (p.Val245Ile) http://identifiers.org/clinvar/179469 ^@ NM_007078.2(LDB3):c.859+3G>A http://identifiers.org/clinvar/163841 ^@ NM_007078.2(LDB3):c.860-15C>T http://identifiers.org/clinvar/177829 ^@ NM_001080116.1(LDB3):c.756-13_756-10dupCTCT http://identifiers.org/clinvar/178902 ^@ NM_007078.2(LDB3):c.1017T>G (p.Ala339=) http://identifiers.org/clinvar/177883 ^@ NM_007078.2(LDB3):c.1045T>A (p.Ser349Thr) http://identifiers.org/clinvar/179901 ^@ NM_007078.2(LDB3):c.1605C>T (p.Thr535=) http://identifiers.org/clinvar/163850 ^@ NM_007078.2(LDB3):c.1609delC (p.Gln537Argfs) http://identifiers.org/clinvar/163851 ^@ NM_007078.2(LDB3):c.1786G>A (p.Val596Ile) http://identifiers.org/clinvar/163853 ^@ NM_007078.2(LDB3):c.1798C>T (p.Arg600Ter) http://identifiers.org/clinvar/179942 ^@ NM_007078.2(LDB3):c.2091C>T (p.Cys697=) http://identifiers.org/clinvar/162701 ^@ NM_001613.2(ACTA2):c.720G>C (p.Lys240Asn) http://identifiers.org/clinvar/162747 ^@ NM_014391.2(ANKRD1):c.458A>T (p.Lys153Ile) http://identifiers.org/clinvar/162749 ^@ NM_014391.2(ANKRD1):c.256G>C (p.Asp86His) http://identifiers.org/clinvar/178005 ^@ NM_014391.2(ANKRD1):c.150C>G (p.Ala50=) http://identifiers.org/clinvar/242622 ^@ NM_000771.3(CYP2C9):c.430C= (p.Arg144=) http://identifiers.org/clinvar/167184 ^@ NM_000195.4(HPS1):c.1599-15A>G http://identifiers.org/clinvar/163665 ^@ NM_000195.4(HPS1):c.1397+7G>C http://identifiers.org/clinvar/179629 ^@ NM_000195.4(HPS1):c.472C>T (p.Arg158Cys) http://identifiers.org/clinvar/163667 ^@ NM_000195.4(HPS1):c.11T>C (p.Val4Ala) http://identifiers.org/clinvar/179613 ^@ NC_000011.10:g.(?_532631)_(534375_?)dup http://identifiers.org/clinvar/179698 ^@ NM_002906.3(RDX):c.1364A>C (p.Asp455Ala) http://identifiers.org/clinvar/179207 ^@ NM_002906.3(RDX):c.1308delG (p.Lys438Argfs) http://identifiers.org/clinvar/180030 ^@ NM_002906.3(RDX):c.1176G>A (p.Glu392=) http://identifiers.org/clinvar/165054 ^@ NM_002906.3(RDX):c.354G>T (p.Pro118=) http://identifiers.org/clinvar/165184 ^@ NM_003002.3(SDHD):c.*260T>A http://identifiers.org/clinvar/179362 ^@ NM_003002.3(SDHD):c.*822T>C http://identifiers.org/clinvar/162829 ^@ NM_005188.3(CBL):c.522T>C (p.Phe174=) http://identifiers.org/clinvar/178870 ^@ NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) http://identifiers.org/clinvar/177959 ^@ NM_005188.3(CBL):c.1228-2A>G http://identifiers.org/clinvar/179387 ^@ NM_005188.3(CBL):c.1647C>A (p.Asp549Glu) http://identifiers.org/clinvar/162836 ^@ NM_005188.3(CBL):c.1962A>G (p.Leu654=) http://identifiers.org/clinvar/179842 ^@ NM_005422.2(TECTA):c.65-14A>G http://identifiers.org/clinvar/179938 ^@ NM_005422.2(TECTA):c.585C>T (p.Gly195=) http://identifiers.org/clinvar/165343 ^@ NM_005422.2(TECTA):c.690C>T (p.Ile230=) http://identifiers.org/clinvar/178637 ^@ NM_005422.2(TECTA):c.790+12C>T http://identifiers.org/clinvar/178533 ^@ NM_005422.2(TECTA):c.1085G>T (p.Ser362Ile) http://identifiers.org/clinvar/178534 ^@ NM_005422.2(TECTA):c.1320T>C (p.Asp440=) http://identifiers.org/clinvar/165350 ^@ NM_005422.2(TECTA):c.1461A>G (p.Gly487=) http://identifiers.org/clinvar/165351 ^@ NM_005422.2(TECTA):c.1699G>A (p.Ala567Thr) http://identifiers.org/clinvar/179257 ^@ NM_005422.2(TECTA):c.2032G>A (p.Glu678Lys) http://identifiers.org/clinvar/165354 ^@ NM_005422.2(TECTA):c.2308C>A (p.Arg770=) http://identifiers.org/clinvar/178537 ^@ NM_005422.2(TECTA):c.2574C>T (p.Asp858=) http://identifiers.org/clinvar/178636 ^@ NM_005422.2(TECTA):c.2781T>C (p.His927=) http://identifiers.org/clinvar/178538 ^@ NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) http://identifiers.org/clinvar/178539 ^@ NM_005422.2(TECTA):c.3492C>T (p.Thr1164=) http://identifiers.org/clinvar/179095 ^@ NM_005422.2(TECTA):c.3925G>A (p.Ala1309Thr) http://identifiers.org/clinvar/179847 ^@ NM_005422.2(TECTA):c.4163G>T (p.Arg1388Leu) http://identifiers.org/clinvar/165365 ^@ NM_005422.2(TECTA):c.4471G>A (p.Gly1491Ser) http://identifiers.org/clinvar/179914 ^@ NM_005422.2(TECTA):c.4510C>T (p.Arg1504Cys) http://identifiers.org/clinvar/178540 ^@ NM_005422.2(TECTA):c.4611C>T (p.Pro1537=) http://identifiers.org/clinvar/165367 ^@ NM_005422.2(TECTA):c.4788C>T (p.Ile1596=) http://identifiers.org/clinvar/179309 ^@ NM_005422.2(TECTA):c.5273-8delC http://identifiers.org/clinvar/179239 ^@ NM_005422.2(TECTA):c.5717_5718delTCinsGA (p.Ile1906Arg) http://identifiers.org/clinvar/165371 ^@ NM_005422.2(TECTA):c.5861C>T (p.Thr1954Met) http://identifiers.org/clinvar/165369 ^@ NM_005422.2(TECTA):c.6115C>T (p.His2039Tyr) http://identifiers.org/clinvar/179971 ^@ NM_005422.2(TECTA):c.6303G>A (p.Arg2101=) http://identifiers.org/clinvar/163990 ^@ NM_002458.2(MUC5B):c.101A>G (p.Glu34Gly) http://identifiers.org/clinvar/163992 ^@ NM_002458.2(MUC5B):c.324C>T (p.Arg108=) http://identifiers.org/clinvar/163994 ^@ NM_002458.2(MUC5B):c.576+9G>T http://identifiers.org/clinvar/178784 ^@ NM_002458.2(MUC5B):c.757G>A (p.Gly253Ser) http://identifiers.org/clinvar/178786 ^@ NM_002458.2(MUC5B):c.1065C>T (p.Cys355=) http://identifiers.org/clinvar/178788 ^@ NM_002458.2(MUC5B):c.1287C>T (p.Gly429=) http://identifiers.org/clinvar/178493 ^@ NM_000260.3(MYO7A):c.6363G>A (p.Thr2121=) http://identifiers.org/clinvar/164945 ^@ NM_004572.3(PKP2):c.(?_1689)_(1806_?)del (p.(?)) http://identifiers.org/clinvar/165240 ^@ NM_139319.2(SLC17A8):c.310G>A (p.Val104Ile) http://identifiers.org/clinvar/165242 ^@ NM_139319.2(SLC17A8):c.355-4C>A http://identifiers.org/clinvar/178528 ^@ NM_139319.2(SLC17A8):c.705G>A (p.Met235Ile) http://identifiers.org/clinvar/179405 ^@ NM_139319.2(SLC17A8):c.1298-14dupT http://identifiers.org/clinvar/162758 ^@ NM_004316.3(ASCL1):c.627C>G (p.Val209=) http://identifiers.org/clinvar/179705 ^@ NM_000432.3(MYL2):c.480C>T (p.Thr160=) http://identifiers.org/clinvar/178948 ^@ NM_000432.3(MYL2):c.421G>A (p.Ala141Thr) http://identifiers.org/clinvar/177849 ^@ NM_000432.3(MYL2):c.392C>G (p.Ser131Cys) http://identifiers.org/clinvar/164476 ^@ NM_000432.3(MYL2):c.275G>T (p.Gly92Val) http://identifiers.org/clinvar/164478 ^@ NM_000432.3(MYL2):c.184A>T (p.Lys62Ter) http://identifiers.org/clinvar/177926 ^@ NM_000432.3(MYL2):c.142G>T (p.Asp48Tyr) http://identifiers.org/clinvar/164481 ^@ NM_000432.3(MYL2):c.119G>A (p.Arg40Lys) http://identifiers.org/clinvar/178888 ^@ NM_000432.3(MYL2):c.4-14delC http://identifiers.org/clinvar/164997 ^@ NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) http://identifiers.org/clinvar/178109 ^@ NM_002834.4(PTPN11):c.558G>T (p.Arg186=) http://identifiers.org/clinvar/179868 ^@ NM_002834.4(PTPN11):c.1161C>T (p.Asn387=) http://identifiers.org/clinvar/177905 ^@ NM_002834.4(PTPN11):c.1374C>A (p.His458Gln) http://identifiers.org/clinvar/177887 ^@ NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) http://identifiers.org/clinvar/179627 ^@ NM_005691.3(ABCC9):c.4470A>G (p.Val1490=) http://identifiers.org/clinvar/179314 ^@ NM_005691.3(ABCC9):c.4365G>A (p.Gln1455=) http://identifiers.org/clinvar/177999 ^@ NM_005691.3(ABCC9):c.3669G>A (p.Thr1223=) http://identifiers.org/clinvar/178001 ^@ NM_005691.3(ABCC9):c.3339T>G (p.Ser1113=) http://identifiers.org/clinvar/179006 ^@ NM_005691.3(ABCC9):c.3288T>C (p.Phe1096=) http://identifiers.org/clinvar/162686 ^@ NM_005691.3(ABCC9):c.2770-13A>G http://identifiers.org/clinvar/162688 ^@ NM_005691.3(ABCC9):c.2238-1G>A http://identifiers.org/clinvar/162690 ^@ NM_005691.3(ABCC9):c.1875G>A (p.Ser625=) http://identifiers.org/clinvar/163415 ^@ NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?) http://identifiers.org/clinvar/179021 ^@ NM_002471.3(MYH6):c.5735C>T (p.Ala1912Val) http://identifiers.org/clinvar/179101 ^@ NM_002471.3(MYH6):c.5485G>C (p.Glu1829Gln) http://identifiers.org/clinvar/178868 ^@ NM_002471.3(MYH6):c.5072G>A (p.Arg1691His) http://identifiers.org/clinvar/179576 ^@ NM_002471.3(MYH6):c.4960-9G>A http://identifiers.org/clinvar/178066 ^@ NM_002471.3(MYH6):c.4595G>T (p.Arg1532Leu) http://identifiers.org/clinvar/177963 ^@ NM_002471.3(MYH6):c.4416A>G (p.Ser1472=) http://identifiers.org/clinvar/164221 ^@ NM_002471.3(MYH6):c.4328C>A (p.Ala1443Asp) http://identifiers.org/clinvar/179022 ^@ NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile) http://identifiers.org/clinvar/179607 ^@ NM_002471.3(MYH6):c.4082G>A (p.Arg1361His) http://identifiers.org/clinvar/164227 ^@ NM_002471.3(MYH6):c.3979-8_3979-7delinsGC http://identifiers.org/clinvar/164228 ^@ NM_002471.3(MYH6):c.3979-9_3979-7delinsGC http://identifiers.org/clinvar/180116 ^@ NM_002471.3(MYH6):c.3573C>T (p.Ala1191=) http://identifiers.org/clinvar/180016 ^@ NM_002471.3(MYH6):c.3393G>A (p.Arg1131=) http://identifiers.org/clinvar/179637 ^@ NM_002471.3(MYH6):c.3343-3C>A http://identifiers.org/clinvar/178069 ^@ NM_002471.3(MYH6):c.3303G>A (p.Val1101=) http://identifiers.org/clinvar/164236 ^@ NM_002471.3(MYH6):c.3181C>A (p.Leu1061Met) http://identifiers.org/clinvar/179024 ^@ NM_002471.3(MYH6):c.2464G>A (p.Ala822Thr) http://identifiers.org/clinvar/180017 ^@ NM_002471.3(MYH6):c.2199T>C (p.Pro733=) http://identifiers.org/clinvar/164242 ^@ NM_002471.3(MYH6):c.2071G>A (p.Val691Ile) http://identifiers.org/clinvar/164244 ^@ NM_002471.3(MYH6):c.1582-7C>T http://identifiers.org/clinvar/179966 ^@ NM_002471.3(MYH6):c.1328G>C (p.Arg443Pro) http://identifiers.org/clinvar/178075 ^@ NM_002471.3(MYH6):c.1132G>A (p.Gly378Ser) http://identifiers.org/clinvar/178077 ^@ NM_002471.3(MYH6):c.1083G>T (p.Gly361=) http://identifiers.org/clinvar/178078 ^@ NM_002471.3(MYH6):c.981C>T (p.Ser327=) http://identifiers.org/clinvar/179928 ^@ NM_002471.3(MYH6):c.800-5C>T http://identifiers.org/clinvar/164254 ^@ NM_002471.3(MYH6):c.679G>A (p.Ala227Thr) http://identifiers.org/clinvar/164256 ^@ NM_002471.3(MYH6):c.245C>T (p.Pro82Leu) http://identifiers.org/clinvar/164257 ^@ NM_002471.3(MYH6):c.161G>A (p.Arg54Gln) http://identifiers.org/clinvar/164260 ^@ NM_002471.3(MYH6):c.70C>A (p.Leu24Ile) http://identifiers.org/clinvar/164261 ^@ NM_002471.3(MYH6):c.-5C>A http://identifiers.org/clinvar/177891 ^@ NM_000257.3(MYH7):c.5696T>C (p.Val1899Ala) http://identifiers.org/clinvar/179077 ^@ NM_000257.3(MYH7):c.5559+11C>T http://identifiers.org/clinvar/177782 ^@ NM_000257.3(MYH7):c.5559+4C>T http://identifiers.org/clinvar/177892 ^@ NM_000257.3(MYH7):c.5344A>G (p.Met1782Val) http://identifiers.org/clinvar/177629 ^@ NM_000257.3(MYH7):c.5326A>G (p.Ser1776Gly) http://identifiers.org/clinvar/180024 ^@ NM_000257.3(MYH7):c.5279C>T (p.Thr1760Met) http://identifiers.org/clinvar/179401 ^@ NM_000257.3(MYH7):c.5110C>T (p.Gln1704Ter) http://identifiers.org/clinvar/179663 ^@ NM_000257.3(MYH7):c.5067_5079delTGCCGTGGTGGAGinsGGCCGTGGAAGAA (p.Val1692Glu) http://identifiers.org/clinvar/177945 ^@ NM_000257.3(MYH7):c.4816C>T (p.Arg1606Cys) http://identifiers.org/clinvar/179858 ^@ NM_000257.3(MYH7):c.4663G>C (p.Glu1555Gln) http://identifiers.org/clinvar/178081 ^@ NM_000257.3(MYH7):c.4557C>T (p.Ser1519=) http://identifiers.org/clinvar/180072 ^@ NM_000257.3(MYH7):c.4481A>T (p.His1494Leu) http://identifiers.org/clinvar/179243 ^@ NM_000257.3(MYH7):c.4354-2A>C http://identifiers.org/clinvar/164289 ^@ NM_000257.3(MYH7):c.4283T>C (p.Leu1428Ser) http://identifiers.org/clinvar/179201 ^@ NM_000257.3(MYH7):c.4156C>T (p.Leu1386Phe) http://identifiers.org/clinvar/164293 ^@ NM_000257.3(MYH7):c.4124A>G (p.Tyr1375Cys) http://identifiers.org/clinvar/180101 ^@ NM_000257.3(MYH7):c.4075C>A (p.Arg1359Ser) http://identifiers.org/clinvar/177839 ^@ NM_000257.3(MYH7):c.4030C>T (p.Arg1344Trp) http://identifiers.org/clinvar/180067 ^@ NM_000257.3(MYH7):c.3908G>A (p.Arg1303Gln) http://identifiers.org/clinvar/164299 ^@ NM_000257.3(MYH7):c.3748C>T (p.Arg1250Trp) http://identifiers.org/clinvar/179656 ^@ NM_000257.3(MYH7):c.3613G>A (p.Glu1205Lys) http://identifiers.org/clinvar/177676 ^@ NM_000257.3(MYH7):c.3346G>A (p.Glu1116Lys) http://identifiers.org/clinvar/177826 ^@ NM_000257.3(MYH7):c.3236G>A (p.Arg1079Gln) http://identifiers.org/clinvar/164305 ^@ NM_000257.3(MYH7):c.3235C>G (p.Arg1079Gly) http://identifiers.org/clinvar/177753 ^@ NM_000257.3(MYH7):c.3133C>T (p.Arg1045Cys) http://identifiers.org/clinvar/164309 ^@ NM_000257.3(MYH7):c.2899G>A (p.Glu967Lys) http://identifiers.org/clinvar/164311 ^@ NM_000257.3(MYH7):c.2823C>T (p.Arg941=) http://identifiers.org/clinvar/178947 ^@ NM_000257.3(MYH7):c.2783A>C (p.Asp928Ala) http://identifiers.org/clinvar/177924 ^@ NM_000257.3(MYH7):c.2742G>T (p.Gln914His) http://identifiers.org/clinvar/177656 ^@ NM_000257.3(MYH7):c.2708A>G (p.Glu903Gly) http://identifiers.org/clinvar/177763 ^@ NM_000257.3(MYH7):c.2678C>T (p.Ala893Val) http://identifiers.org/clinvar/177867 ^@ NM_000257.3(MYH7):c.2627_2629delAGA (p.Lys876del) http://identifiers.org/clinvar/177847 ^@ NM_000257.3(MYH7):c.2602G>C (p.Ala868Pro) http://identifiers.org/clinvar/177696 ^@ NM_000257.3(MYH7):c.2573G>A (p.Arg858His) http://identifiers.org/clinvar/164325 ^@ NM_000257.3(MYH7):c.2572C>G (p.Arg858Gly) http://identifiers.org/clinvar/177758 ^@ NM_000257.3(MYH7):c.2543A>G (p.Glu848Gly) http://identifiers.org/clinvar/179793 ^@ NM_000257.3(MYH7):c.2527G>A (p.Ala843Thr) http://identifiers.org/clinvar/178928 ^@ NM_000257.3(MYH7):c.2498A>G (p.Tyr833Cys) http://identifiers.org/clinvar/164332 ^@ NM_000257.3(MYH7):c.2432T>C (p.Leu811Pro) http://identifiers.org/clinvar/164334 ^@ NM_000257.3(MYH7):c.2358G>T (p.Thr786=) http://identifiers.org/clinvar/164336 ^@ NM_000257.3(MYH7):c.2342T>C (p.Leu781Pro) http://identifiers.org/clinvar/177642 ^@ NM_000257.3(MYH7):c.2287G>A (p.Val763Met) http://identifiers.org/clinvar/177665 ^@ NM_000257.3(MYH7):c.2221G>T (p.Gly741Trp) http://identifiers.org/clinvar/164342 ^@ NM_000257.3(MYH7):c.2207T>C (p.Ile736Thr) http://identifiers.org/clinvar/177628 ^@ NM_000257.3(MYH7):c.2198G>A (p.Gly733Glu) http://identifiers.org/clinvar/177673 ^@ NM_000257.3(MYH7):c.2129C>T (p.Pro710Leu) http://identifiers.org/clinvar/177756 ^@ NM_000257.3(MYH7):c.2091T>C (p.Gly697=) http://identifiers.org/clinvar/164349 ^@ NM_000257.3(MYH7):c.2052G>A (p.Met684Ile) http://identifiers.org/clinvar/164351 ^@ NM_000257.3(MYH7):c.1969A>C (p.Lys657Gln) http://identifiers.org/clinvar/178083 ^@ NM_000257.3(MYH7):c.1913C>T (p.Ala638Val) http://identifiers.org/clinvar/177703 ^@ NM_000257.3(MYH7):c.1871A>G (p.Tyr624Cys) http://identifiers.org/clinvar/180078 ^@ NM_000257.3(MYH7):c.1804A>G (p.Asn602Asp) http://identifiers.org/clinvar/177625 ^@ NM_000257.3(MYH7):c.1727A>G (p.His576Arg) http://identifiers.org/clinvar/164361 ^@ NM_000257.3(MYH7):c.1584G>A (p.Met528Ile) http://identifiers.org/clinvar/177795 ^@ NM_000257.3(MYH7):c.1562T>C (p.Ile521Thr) http://identifiers.org/clinvar/179379 ^@ NM_000257.3(MYH7):c.1505_1516delAGAAGGAGGGCA (p.Lys502_Gly505del) http://identifiers.org/clinvar/177669 ^@ NM_000257.3(MYH7):c.1496A>G (p.Glu499Gly) http://identifiers.org/clinvar/177817 ^@ NM_000257.3(MYH7):c.1477_1478delAT (p.Met493Valfs) http://identifiers.org/clinvar/177921 ^@ NM_000257.3(MYH7):c.1405G>A (p.Asp469Asn) http://identifiers.org/clinvar/177897 ^@ NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) http://identifiers.org/clinvar/164375 ^@ NM_000257.3(MYH7):c.1283C>T (p.Ala428Val) http://identifiers.org/clinvar/164377 ^@ NM_000257.3(MYH7):c.1166G>A (p.Gly389Glu) http://identifiers.org/clinvar/179272 ^@ NM_000257.3(MYH7):c.1141G>A (p.Ala381Thr) http://identifiers.org/clinvar/178084 ^@ NM_000257.3(MYH7):c.1083C>T (p.Asn361=) http://identifiers.org/clinvar/164381 ^@ NM_000257.3(MYH7):c.1012G>A (p.Val338Met) http://identifiers.org/clinvar/177865 ^@ NM_000257.3(MYH7):c.930T>C (p.Tyr310=) http://identifiers.org/clinvar/179426 ^@ NM_000257.3(MYH7):c.895+11G>A http://identifiers.org/clinvar/164386 ^@ NM_000257.3(MYH7):c.848A>G (p.Tyr283Cys) http://identifiers.org/clinvar/177935 ^@ NM_000257.3(MYH7):c.799C>G (p.Leu267Val) http://identifiers.org/clinvar/177687 ^@ NM_000257.3(MYH7):c.743T>C (p.Ile248Thr) http://identifiers.org/clinvar/164392 ^@ NM_000257.3(MYH7):c.739T>C (p.Phe247Leu) http://identifiers.org/clinvar/179817 ^@ NM_000257.3(MYH7):c.671A>C (p.Asn224Thr) http://identifiers.org/clinvar/177674 ^@ NM_000257.3(MYH7):c.619A>C (p.Lys207Gln) http://identifiers.org/clinvar/177692 ^@ NM_000257.3(MYH7):c.596C>T (p.Ala199Val) http://identifiers.org/clinvar/179639 ^@ NM_000257.3(MYH7):c.487C>T (p.Gln163Ter) http://identifiers.org/clinvar/179242 ^@ NM_000257.3(MYH7):c.350A>T (p.Tyr117Phe) http://identifiers.org/clinvar/177650 ^@ NM_000257.3(MYH7):c.189C= (p.Thr63=) http://identifiers.org/clinvar/179443 ^@ NM_000257.3(MYH7):c.167G>C (p.Gly56Ala) http://identifiers.org/clinvar/177741 ^@ NM_000257.3(MYH7):c.28G>C (p.Gly10Arg) http://identifiers.org/clinvar/178085 ^@ NM_000257.3(MYH7):c.12G>A (p.Ser4=) http://identifiers.org/clinvar/178491 ^@ NM_000260.3(MYO7A):c.5356T>A (p.Ser1786Thr) http://identifiers.org/clinvar/178490 ^@ NM_000260.3(MYO7A):c.5418C>T (p.Ala1806=) http://identifiers.org/clinvar/179564 ^@ NM_000260.3(MYO7A):c.5481-15C>T http://identifiers.org/clinvar/164718 ^@ NM_000260.3(MYO7A):c.5504A>G (p.Glu1835Gly) http://identifiers.org/clinvar/178495 ^@ NM_000260.3(MYO7A):c.5899C>T (p.Arg1967Ter) http://identifiers.org/clinvar/179386 ^@ NM_000260.3(MYO7A):c.6243C>A (p.Ile2081=) http://identifiers.org/clinvar/164724 ^@ NM_000260.3(MYO7A):c.6326C>T (p.Thr2109Ile) http://identifiers.org/clinvar/164726 ^@ NM_000260.3(MYO7A):c.6615G>A (p.Met2205Ile) http://identifiers.org/clinvar/178632 ^@ NM_139319.2(SLC17A8):c.23C>T (p.Thr8Ile) http://identifiers.org/clinvar/179403 ^@ NM_139319.2(SLC17A8):c.354+4G>C http://identifiers.org/clinvar/165243 ^@ NM_139319.2(SLC17A8):c.547G>A (p.Gly183Arg) http://identifiers.org/clinvar/165244 ^@ NM_139319.2(SLC17A8):c.854C>T (p.Thr285Ile) http://identifiers.org/clinvar/179803 ^@ NM_139319.2(SLC17A8):c.1396C>A (p.Leu466Ile) http://identifiers.org/clinvar/164469 ^@ NM_000432.3(MYL2):c.482A>G (p.His161Arg) http://identifiers.org/clinvar/177824 ^@ NM_000432.3(MYL2):c.428C>T (p.Pro143Leu) http://identifiers.org/clinvar/177934 ^@ NM_000432.3(MYL2):c.402G>C (p.Glu134Asp) http://identifiers.org/clinvar/179712 ^@ NM_000432.3(MYL2):c.389T>G (p.Phe130Cys) http://identifiers.org/clinvar/164477 ^@ NM_000432.3(MYL2):c.237T>C (p.Phe79=) http://identifiers.org/clinvar/177958 ^@ NM_000432.3(MYL2):c.163G>T (p.Ala55Ser) http://identifiers.org/clinvar/178974 ^@ NM_000432.3(MYL2):c.119G>T (p.Arg40Met) http://identifiers.org/clinvar/177719 ^@ NM_000432.3(MYL2):c.45_46delCAinsT (p.Asn16Thrfs) http://identifiers.org/clinvar/179221 ^@ NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) http://identifiers.org/clinvar/177754 ^@ NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) http://identifiers.org/clinvar/164998 ^@ NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) http://identifiers.org/clinvar/177912 ^@ NM_001330437.1(PTPN11):c.1230A>G (p.Leu410=) http://identifiers.org/clinvar/177882 ^@ NM_002834.4(PTPN11):c.1551G>A (p.Ala517=) http://identifiers.org/clinvar/178917 ^@ NM_020297.3(ABCC9):c.4569T>C (p.Asn1523=) http://identifiers.org/clinvar/178859 ^@ NM_005691.3(ABCC9):c.4450-5dupT http://identifiers.org/clinvar/179983 ^@ NM_005691.3(ABCC9):c.4196dupT (p.Ser1400Glnfs) http://identifiers.org/clinvar/178000 ^@ NM_005691.3(ABCC9):c.3668C>T (p.Thr1223Met) http://identifiers.org/clinvar/179407 ^@ NM_005691.3(ABCC9):c.3315+4A>G http://identifiers.org/clinvar/179007 ^@ NM_005691.3(ABCC9):c.2932C>A (p.Pro978Thr) http://identifiers.org/clinvar/162687 ^@ NM_020297.3(ABCC9):c.2644-11G>C http://identifiers.org/clinvar/180001 ^@ NM_020297.3(ABCC9):c.2199-6T>C http://identifiers.org/clinvar/177798 ^@ NM_005691.3(ABCC9):c.1296C>T (p.Pro432=) http://identifiers.org/clinvar/177988 ^@ NM_002471.3(MYH6):c.*8T>C http://identifiers.org/clinvar/164212 ^@ NM_002471.3(MYH6):c.5514G>T (p.Ser1838=) http://identifiers.org/clinvar/164214 ^@ NM_002471.3(MYH6):c.5089A>G (p.Thr1697Ala) http://identifiers.org/clinvar/179250 ^@ NM_002471.3(MYH6):c.5062G>A (p.Glu1688Lys) http://identifiers.org/clinvar/178065 ^@ NM_002471.3(MYH6):c.4905C>T (p.Asn1635=) http://identifiers.org/clinvar/179581 ^@ NM_002471.3(MYH6):c.4470C>T (p.Tyr1490=) http://identifiers.org/clinvar/178067 ^@ NM_002471.3(MYH6):c.4360-7C>G http://identifiers.org/clinvar/178068 ^@ NM_002471.3(MYH6):c.4307G>A (p.Arg1436His) http://identifiers.org/clinvar/179787 ^@ NM_002471.3(MYH6):c.4175+1G>C http://identifiers.org/clinvar/179076 ^@ NM_002471.3(MYH6):c.3979-7dupT http://identifiers.org/clinvar/179575 ^@ NM_002471.3(MYH6):c.3979-8dupC http://identifiers.org/clinvar/164229 ^@ NM_002471.3(MYH6):c.3758C>T (p.Thr1253Met) http://identifiers.org/clinvar/164230 ^@ NM_002471.3(MYH6):c.3508G>A (p.Glu1170Lys) http://identifiers.org/clinvar/179905 ^@ NM_002471.3(MYH6):c.3382C>T (p.Arg1128Cys) http://identifiers.org/clinvar/179838 ^@ NM_002471.3(MYH6):c.3324G>T (p.Lys1108Asn) http://identifiers.org/clinvar/179023 ^@ NM_002471.3(MYH6):c.3220G>A (p.Asp1074Asn) http://identifiers.org/clinvar/164237 ^@ NM_002471.3(MYH6):c.2980C>A (p.Leu994Met) http://identifiers.org/clinvar/178070 ^@ NM_002471.3(MYH6):c.2430-14C>T http://identifiers.org/clinvar/178071 ^@ NM_002471.3(MYH6):c.2097C>T (p.Gly699=) http://identifiers.org/clinvar/178072 ^@ NM_002471.3(MYH6):c.1702C>T (p.Arg568Cys) http://identifiers.org/clinvar/178073 ^@ NM_002471.3(MYH6):c.1410C>T (p.Asp470=) http://identifiers.org/clinvar/178074 ^@ NM_002471.3(MYH6):c.1141+8G>T http://identifiers.org/clinvar/178076 ^@ NM_002471.3(MYH6):c.1122G>A (p.Ala374=) http://identifiers.org/clinvar/179164 ^@ NM_002471.3(MYH6):c.1002+9G>A http://identifiers.org/clinvar/177985 ^@ NM_002471.3(MYH6):c.831G>T (p.Gln277His) http://identifiers.org/clinvar/179804 ^@ NM_002471.3(MYH6):c.799+14G>C http://identifiers.org/clinvar/164255 ^@ NM_002471.3(MYH6):c.346-2A>G http://identifiers.org/clinvar/179864 ^@ NM_002471.3(MYH6):c.202-12C>T http://identifiers.org/clinvar/164258 ^@ NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) http://identifiers.org/clinvar/164259 ^@ NM_002471.3(MYH6):c.36G>A (p.Ala12=) http://identifiers.org/clinvar/164262 ^@ NM_000257.3(MYH7):c.5725C>A (p.Arg1909=) http://identifiers.org/clinvar/164264 ^@ NM_000257.3(MYH7):c.5690G>A (p.Arg1897His) http://identifiers.org/clinvar/164266 ^@ NM_000257.3(MYH7):c.5559+9G>A http://identifiers.org/clinvar/164268 ^@ NM_000257.3(MYH7):c.5507C>T (p.Ser1836Leu) http://identifiers.org/clinvar/177697 ^@ NM_000257.3(MYH7):c.5329G>A (p.Ala1777Thr) http://identifiers.org/clinvar/177846 ^@ NM_000257.3(MYH7):c.5287G>A (p.Ala1763Thr) http://identifiers.org/clinvar/177922 ^@ NM_000257.3(MYH7):c.5156A>G (p.Gln1719Arg) http://identifiers.org/clinvar/164276 ^@ NM_000257.3(MYH7):c.5096G>A (p.Arg1699Gln) http://identifiers.org/clinvar/179711 ^@ NM_000257.3(MYH7):c.4954-14C>G http://identifiers.org/clinvar/178079 ^@ NM_000257.3(MYH7):c.4725G>A (p.Lys1575=) http://identifiers.org/clinvar/178080 ^@ NM_000257.3(MYH7):c.4618C>T (p.Leu1540=) http://identifiers.org/clinvar/164284 ^@ NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp) http://identifiers.org/clinvar/180007 ^@ NM_000257.3(MYH7):c.4362C>G (p.Ala1454=) http://identifiers.org/clinvar/164288 ^@ NM_000257.3(MYH7):c.4326G>A (p.Leu1442=) http://identifiers.org/clinvar/179655 ^@ NM_000257.3(MYH7):c.4204G>A (p.Glu1402Lys) http://identifiers.org/clinvar/177788 ^@ NM_000257.3(MYH7):c.4145G>A (p.Arg1382Gln) http://identifiers.org/clinvar/178082 ^@ NM_000257.3(MYH7):c.4075C>T (p.Arg1359Cys) http://identifiers.org/clinvar/164294 ^@ NM_000257.3(MYH7):c.4066G>A (p.Glu1356Lys) http://identifiers.org/clinvar/164296 ^@ NM_000257.3(MYH7):c.3967G>A (p.Val1323Ile) http://identifiers.org/clinvar/164298 ^@ NM_000257.3(MYH7):c.3829C>A (p.Arg1277=) http://identifiers.org/clinvar/179125 ^@ NM_000257.3(MYH7):c.3664A>G (p.Ser1222Gly) http://identifiers.org/clinvar/164302 ^@ NM_000257.3(MYH7):c.3370G>T (p.Ala1124Ser) http://identifiers.org/clinvar/180110 ^@ NM_000257.3(MYH7):c.3245+3A>T http://identifiers.org/clinvar/164304 ^@ NM_000257.3(MYH7):c.3235C>T (p.Arg1079Trp) http://identifiers.org/clinvar/177851 ^@ NM_000257.3(MYH7):c.3152C>T (p.Ala1051Val) http://identifiers.org/clinvar/177895 ^@ NM_000257.3(MYH7):c.2973G>T (p.Lys991Asn) http://identifiers.org/clinvar/177875 ^@ NM_000257.3(MYH7):c.2882T>C (p.Leu961Pro) http://identifiers.org/clinvar/164312 ^@ NM_000257.3(MYH7):c.2788G>C (p.Glu930Gln) http://identifiers.org/clinvar/164313 ^@ NM_000257.3(MYH7):c.2782G>A (p.Asp928Asn) http://identifiers.org/clinvar/164316 ^@ NM_000257.3(MYH7):c.2710C>T (p.Arg904Cys) http://identifiers.org/clinvar/177930 ^@ NM_000257.3(MYH7):c.2692C>G (p.Leu898Val) http://identifiers.org/clinvar/164319 ^@ NM_000257.3(MYH7):c.2678C>A (p.Ala893Glu) http://identifiers.org/clinvar/177667 ^@ NM_000257.3(MYH7):c.2606G>A (p.Arg869His) http://identifiers.org/clinvar/164323 ^@ NM_000257.3(MYH7):c.2599G>A (p.Glu867Lys) http://identifiers.org/clinvar/164324 ^@ NM_000257.3(MYH7):c.2572C>T (p.Arg858Cys) http://identifiers.org/clinvar/164326 ^@ NM_000257.3(MYH7):c.2572C>A (p.Arg858Ser) http://identifiers.org/clinvar/177757 ^@ NM_000257.3(MYH7):c.2539A>G (p.Lys847Glu) http://identifiers.org/clinvar/164329 ^@ NM_000257.3(MYH7):c.2513C>A (p.Pro838Gln) http://identifiers.org/clinvar/164330 ^@ NM_000257.3(MYH7):c.2471T>C (p.Val824Ala) http://identifiers.org/clinvar/164333 ^@ NM_000257.3(MYH7):c.2424-12G>T http://identifiers.org/clinvar/164335 ^@ NM_000257.3(MYH7):c.2347C>G (p.Arg783Gly) http://identifiers.org/clinvar/164337 ^@ NM_000257.3(MYH7):c.2302G>A (p.Gly768Arg) http://identifiers.org/clinvar/177783 ^@ NM_000257.3(MYH7):c.2246T>A (p.Leu749Gln) http://identifiers.org/clinvar/177975 ^@ NM_000257.3(MYH7):c.2217G>T (p.Arg739Ser) http://identifiers.org/clinvar/179420 ^@ NM_000257.3(MYH7):c.2207T>A (p.Ile736Asn) http://identifiers.org/clinvar/177716 ^@ NM_000257.3(MYH7):c.2191C>G (p.Pro731Ala) http://identifiers.org/clinvar/177734 ^@ NM_000257.3(MYH7):c.2129C>A (p.Pro710His) http://identifiers.org/clinvar/177627 ^@ NM_000257.3(MYH7):c.2080C>T (p.Arg694Cys) http://identifiers.org/clinvar/164350 ^@ NM_000257.3(MYH7):c.2011C>T (p.Arg671Cys) http://identifiers.org/clinvar/177626 ^@ NM_000257.3(MYH7):c.1954A>G (p.Arg652Gly) http://identifiers.org/clinvar/178890 ^@ NM_000257.3(MYH7):c.1888+13T>G http://identifiers.org/clinvar/179525 ^@ NM_000257.3(MYH7):c.1826A>G (p.Tyr609Cys) http://identifiers.org/clinvar/177707 ^@ NM_000257.3(MYH7):c.1759G>A (p.Asp587Asn) http://identifiers.org/clinvar/177671 ^@ NM_000257.3(MYH7):c.1608G>T (p.Glu536Asp) http://identifiers.org/clinvar/177919 ^@ NM_000257.3(MYH7):c.1570A>G (p.Ile524Val) http://identifiers.org/clinvar/177624 ^@ NM_000257.3(MYH7):c.1549C>A (p.Leu517Met) http://identifiers.org/clinvar/177695 ^@ NM_000257.3(MYH7):c.1499A>C (p.Glu500Ala) http://identifiers.org/clinvar/177711 ^@ NM_000257.3(MYH7):c.1490A>G (p.Glu497Gly) http://identifiers.org/clinvar/177623 ^@ NM_000257.3(MYH7):c.1436A>G (p.Asn479Ser) http://identifiers.org/clinvar/177821 ^@ NM_000257.3(MYH7):c.1402T>C (p.Phe468Leu) http://identifiers.org/clinvar/177948 ^@ NM_000257.3(MYH7):c.1315A>T (p.Met439Leu) http://identifiers.org/clinvar/164376 ^@ NM_000257.3(MYH7):c.1269C>T (p.Ala423=) http://identifiers.org/clinvar/164378 ^@ NM_000257.3(MYH7):c.1157A>G (p.Tyr386Cys) http://identifiers.org/clinvar/164379 ^@ NM_000257.3(MYH7):c.1106G>C (p.Arg369Pro) http://identifiers.org/clinvar/164380 ^@ NM_000257.3(MYH7):c.1060G>A (p.Gly354Ser) http://identifiers.org/clinvar/164382 ^@ NM_000257.3(MYH7):c.1003G>T (p.Ala335Ser) http://identifiers.org/clinvar/164383 ^@ NM_000257.3(MYH7):c.895+12C>T http://identifiers.org/clinvar/164385 ^@ NM_000257.3(MYH7):c.859T>C (p.Tyr287His) http://identifiers.org/clinvar/177713 ^@ NM_000257.3(MYH7):c.830T>C (p.Leu277Pro) http://identifiers.org/clinvar/179894 ^@ NM_000257.3(MYH7):c.755T>C (p.Phe252Ser) http://identifiers.org/clinvar/164391 ^@ NM_000257.3(MYH7):c.742A>T (p.Ile248Phe) http://identifiers.org/clinvar/177858 ^@ NM_000257.3(MYH7):c.698C>T (p.Ala233Val) http://identifiers.org/clinvar/164395 ^@ NM_000257.3(MYH7):c.632C>T (p.Pro211Leu) http://identifiers.org/clinvar/177869 ^@ NM_000257.3(MYH7):c.611G>T (p.Arg204Leu) http://identifiers.org/clinvar/177664 ^@ NM_000257.3(MYH7):c.505A>G (p.Arg169Gly) http://identifiers.org/clinvar/164401 ^@ NM_000257.3(MYH7):c.427C>T (p.Arg143Trp) http://identifiers.org/clinvar/163997 ^@ NM_002458.2(MUC5B):c.2007T>C (p.Tyr669=) http://identifiers.org/clinvar/163998 ^@ NM_002458.2(MUC5B):c.2493C>T (p.Cys831=) http://identifiers.org/clinvar/163999 ^@ NM_002458.2(MUC5B):c.3198A>G (p.Ala1066=) http://identifiers.org/clinvar/164001 ^@ NM_002458.2(MUC5B):c.14937T>C (p.Ile4979=) http://identifiers.org/clinvar/178792 ^@ NM_002458.2(MUC5B):c.15450C>T (p.Thr5150=) http://identifiers.org/clinvar/178793 ^@ NM_002458.2(MUC5B):c.15477+12C>A http://identifiers.org/clinvar/164004 ^@ NM_002458.2(MUC5B):c.15542T>C (p.Leu5181Pro) http://identifiers.org/clinvar/178794 ^@ NM_002458.2(MUC5B):c.15861A>G (p.Pro5287=) http://identifiers.org/clinvar/178796 ^@ NM_002458.2(MUC5B):c.16014C>T (p.Cys5338=) http://identifiers.org/clinvar/178797 ^@ NM_002458.2(MUC5B):c.16110C>A (p.Pro5370=) http://identifiers.org/clinvar/164007 ^@ NM_002458.2(MUC5B):c.16273G>A (p.Gly5425Arg) http://identifiers.org/clinvar/164010 ^@ NM_002458.2(MUC5B):c.16422G>C (p.Glu5474Asp) http://identifiers.org/clinvar/164011 ^@ NM_002458.2(MUC5B):c.16660G>A (p.Asp5554Asn) http://identifiers.org/clinvar/164013 ^@ NM_002458.2(MUC5B):c.17043C>T (p.Cys5681=) http://identifiers.org/clinvar/180086 ^@ NM_153676.3(USH1C):c.2591G>A (p.Arg864Gln) http://identifiers.org/clinvar/178561 ^@ NM_153676.3(USH1C):c.2538C>T (p.Asp846=) http://identifiers.org/clinvar/178563 ^@ NM_153676.3(USH1C):c.2410G>A (p.Ala804Thr) http://identifiers.org/clinvar/178564 ^@ NM_153676.3(USH1C):c.2240A>G (p.Gln747Arg) http://identifiers.org/clinvar/179845 ^@ NM_153676.3(USH1C):c.2112A>G (p.Pro704=) http://identifiers.org/clinvar/179877 ^@ NM_153676.3(USH1C):c.1874C>T (p.Ala625Val) http://identifiers.org/clinvar/179964 ^@ NM_153676.3(USH1C):c.1822C>T (p.Pro608Ser) http://identifiers.org/clinvar/166381 ^@ NM_153676.3(USH1C):c.1678G>C (p.Ala560Pro) http://identifiers.org/clinvar/166382 ^@ NM_153676.3(USH1C):c.1597G>A (p.Ala533Thr) http://identifiers.org/clinvar/179319 ^@ NM_153676.3(USH1C):c.1574T>C (p.Leu525Pro) http://identifiers.org/clinvar/166386 ^@ NM_153676.3(USH1C):c.1233C>T (p.Tyr411=) http://identifiers.org/clinvar/166387 ^@ NM_005709.3(USH1C):c.1211-4G>A http://identifiers.org/clinvar/166389 ^@ NM_153676.3(USH1C):c.965G>A (p.Arg322Gln) http://identifiers.org/clinvar/178567 ^@ NM_153676.3(USH1C):c.684C>T (p.Ser228=) http://identifiers.org/clinvar/166393 ^@ NM_153676.3(USH1C):c.629A>C (p.Lys210Thr) http://identifiers.org/clinvar/178644 ^@ NM_005709.3(USH1C):c.114C>T (p.Asp38=) http://identifiers.org/clinvar/163677 ^@ NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) http://identifiers.org/clinvar/163678 ^@ NM_181507.1(HPS5):c.822C>A (p.Leu274=) http://identifiers.org/clinvar/163004 ^@ NM_003476.4(CSRP3):c.*12G>A http://identifiers.org/clinvar/179488 ^@ NM_003476.4(CSRP3):c.539G>T (p.Gly180Val) http://identifiers.org/clinvar/178967 ^@ NM_003476.4(CSRP3):c.516T>C (p.Tyr172=) http://identifiers.org/clinvar/163009 ^@ NM_003476.4(CSRP3):c.437G>A (p.Arg146His) http://identifiers.org/clinvar/178014 ^@ NM_003476.4(CSRP3):c.272A>T (p.Gln91Leu) http://identifiers.org/clinvar/163013 ^@ NM_003476.4(CSRP3):c.16G>A (p.Gly6Arg) http://identifiers.org/clinvar/163014 ^@ NM_003476.4(CSRP3):c.-88A>G http://identifiers.org/clinvar/178873 ^@ NM_000218.2(KCNQ1):c.347G>A (p.Arg116His) http://identifiers.org/clinvar/163734 ^@ NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) http://identifiers.org/clinvar/178385 ^@ NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) http://identifiers.org/clinvar/178386 ^@ NM_000218.2(KCNQ1):c.604+12C>T http://identifiers.org/clinvar/179293 ^@ NM_000218.2(KCNQ1):c.900A>C (p.Ala300=) http://identifiers.org/clinvar/163741 ^@ NM_000218.2(KCNQ1):c.1032+11C>T http://identifiers.org/clinvar/179329 ^@ NM_170731.4(BDNF):c.474G= (p.Ala158=) http://identifiers.org/clinvar/178002 ^@ NM_005691.3(ABCC9):c.1200G>A (p.Thr400=) http://identifiers.org/clinvar/179757 ^@ NM_005691.3(ABCC9):c.1012-14delT http://identifiers.org/clinvar/177797 ^@ NM_005691.3(ABCC9):c.574-5C= http://identifiers.org/clinvar/162696 ^@ NM_020297.3(ABCC9):c.289C>T (p.Arg97Trp) http://identifiers.org/clinvar/162698 ^@ NM_020297.3(ABCC9):c.142+15dupA http://identifiers.org/clinvar/162699 ^@ NM_005691.3(ABCC9):c.48C>T (p.Asn16=) http://identifiers.org/clinvar/163758 ^@ NM_004985.4(KRAS):c.466T>A (p.Phe156Ile) http://identifiers.org/clinvar/180052 ^@ NM_004985.4(KRAS):c.451-5652C>T http://identifiers.org/clinvar/163761 ^@ NM_004985.4(KRAS):c.290G>A (p.Arg97Lys) http://identifiers.org/clinvar/179141 ^@ NM_004985.4(KRAS):c.214A>T (p.Met72Leu) http://identifiers.org/clinvar/177777 ^@ NM_004985.4(KRAS):c.181C>A (p.Gln61Lys) http://identifiers.org/clinvar/163768 ^@ NM_004985.4(KRAS):c.108A>G (p.Ile36Met) http://identifiers.org/clinvar/177710 ^@ NM_004985.4(KRAS):c.-122C>T http://identifiers.org/clinvar/163771 ^@ NM_004985.4(KRAS):c.-160A>G http://identifiers.org/clinvar/177932 ^@ NM_004985.4(KRAS):c.-178C>A http://identifiers.org/clinvar/179315 ^@ NM_004572.3(PKP2):c.2551delA (p.Thr851Argfs) http://identifiers.org/clinvar/178105 ^@ NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) http://identifiers.org/clinvar/179559 ^@ NM_004572.3(PKP2):c.2378C>A (p.Ala793Asp) http://identifiers.org/clinvar/164953 ^@ NM_004572.3(PKP2):c.2222G>T (p.Gly741Val) http://identifiers.org/clinvar/180023 ^@ NM_004572.3(PKP2):c.2097A>G (p.Gln699=) http://identifiers.org/clinvar/164957 ^@ NM_004572.3(PKP2):c.1780A>G (p.Ile594Val) http://identifiers.org/clinvar/178106 ^@ NM_004572.3(PKP2):c.1636G>A (p.Ala546Thr) http://identifiers.org/clinvar/179977 ^@ NM_004572.3(PKP2):c.1438A>G (p.Asn480Asp) http://identifiers.org/clinvar/164963 ^@ NM_004572.3(PKP2):c.1093A>G (p.Met365Val) http://identifiers.org/clinvar/177984 ^@ NM_004572.3(PKP2):c.772A>T (p.Lys258Ter) http://identifiers.org/clinvar/179027 ^@ NM_004572.3(PKP2):c.696C>T (p.Asp232=) http://identifiers.org/clinvar/164969 ^@ NM_004572.3(PKP2):c.418T>A (p.Ser140Thr) http://identifiers.org/clinvar/178621 ^@ NM_005379.3(MYO1A):c.3026A>C (p.Glu1009Ala) http://identifiers.org/clinvar/164578 ^@ NM_005379.3(MYO1A):c.2919C>T (p.Ser973=) http://identifiers.org/clinvar/164580 ^@ NM_005379.3(MYO1A):c.2804T>C (p.Ile935Thr) http://identifiers.org/clinvar/178455 ^@ NM_005379.3(MYO1A):c.2708A>G (p.Asn903Ser) http://identifiers.org/clinvar/178620 ^@ NM_001256041.1(MYO1A):c.2390C>T (p.Ser797Phe) http://identifiers.org/clinvar/178454 ^@ NM_005379.3(MYO1A):c.2316C>T (p.Ala772=) http://identifiers.org/clinvar/164586 ^@ NM_005379.3(MYO1A):c.2228T>C (p.Ile743Thr) http://identifiers.org/clinvar/164588 ^@ NM_005379.3(MYO1A):c.2032A>T (p.Ile678Phe) http://identifiers.org/clinvar/164590 ^@ NM_005379.3(MYO1A):c.1882C>G (p.Arg628Gly) http://identifiers.org/clinvar/164592 ^@ NM_005379.3(MYO1A):c.1678C>G (p.Pro560Ala) http://identifiers.org/clinvar/164594 ^@ NM_005379.3(MYO1A):c.1517G>C (p.Cys506Ser) http://identifiers.org/clinvar/164595 ^@ NM_005379.3(MYO1A):c.1270-10C>T http://identifiers.org/clinvar/178457 ^@ NM_005379.3(MYO1A):c.829G>A (p.Val277Met) http://identifiers.org/clinvar/164597 ^@ NM_005379.3(MYO1A):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/164599 ^@ NM_005379.3(MYO1A):c.522C>T (p.Leu174=) http://identifiers.org/clinvar/164600 ^@ NM_005379.3(MYO1A):c.221A>C (p.Lys74Thr) http://identifiers.org/clinvar/164601 ^@ NM_005379.3(MYO1A):c.-11C>T http://identifiers.org/clinvar/165165 ^@ NM_001038.5(SCNN1A):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/163978 ^@ NM_001193460.1(MSRB3):c.114T>C (p.Phe38=) http://identifiers.org/clinvar/163980 ^@ NM_001193460.1(MSRB3):c.310G>A (p.Asp104Asn) http://identifiers.org/clinvar/180005 ^@ NM_001032283.2(TMPO):c.70A>C (p.Asn24His) http://identifiers.org/clinvar/179138 ^@ NM_003276.2(TMPO):c.252G>T (p.Ala84=) http://identifiers.org/clinvar/179035 ^@ NM_003276.2(TMPO):c.718G>A (p.Ala240Thr) http://identifiers.org/clinvar/179678 ^@ NM_003276.2(TMPO):c.1187C>T (p.Thr396Ile) http://identifiers.org/clinvar/178143 ^@ NM_003276.2(TMPO):c.1309G>C (p.Val437Leu) http://identifiers.org/clinvar/179913 ^@ NM_003276.2(TMPO):c.1498A>G (p.Lys500Glu) http://identifiers.org/clinvar/165472 ^@ NM_003276.2(TMPO):c.2042_2044delGAG (p.Gly681del) http://identifiers.org/clinvar/179335 ^@ NM_001032283.2(TMPO):c.663+13T>G http://identifiers.org/clinvar/165476 ^@ NM_001032283.2(TMPO):c.806G>A (p.Arg269His) http://identifiers.org/clinvar/179096 ^@ NM_001032283.2(TMPO):c.1174C>T (p.Pro392Ser) http://identifiers.org/clinvar/177736 ^@ NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) http://identifiers.org/clinvar/163514 ^@ NM_004004.5(GJB2):c.379C>T (p.Arg127Cys) http://identifiers.org/clinvar/163516 ^@ NM_004004.5(GJB2):c.267C>G (p.Leu89=) http://identifiers.org/clinvar/179274 ^@ NM_004004.5(GJB2):c.219C>T (p.His73=) http://identifiers.org/clinvar/163520 ^@ NM_004004.5(GJB2):c.176G>A (p.Gly59Asp) http://identifiers.org/clinvar/179825 ^@ NM_004004.5(GJB2):c.50C>G (p.Ser17Cys) http://identifiers.org/clinvar/163524 ^@ NM_004004.5(GJB2):c.-127G>C http://identifiers.org/clinvar/179782 ^@ NM_006783.4(GJB6):c.209C>T (p.Pro70Leu) http://identifiers.org/clinvar/179837 ^@ NC_000014.9:g.(?_76439354)_(76500721_?)del http://identifiers.org/clinvar/180122 ^@ NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68del http://identifiers.org/clinvar/163457 ^@ NC_000015.10:g.(?_48411326)_(48468521_?)del http://identifiers.org/clinvar/178809 ^@ NM_000548.4(TSC2):c.1785G>A (p.Gln595=) http://identifiers.org/clinvar/178330 ^@ NM_001888.4(CRYM):c.807T>C (p.Phe269=) http://identifiers.org/clinvar/163002 ^@ NM_001888.4(CRYM):c.741C>T (p.Tyr247=) http://identifiers.org/clinvar/179476 ^@ NM_001888.4(CRYM):c.343A>G (p.Ile115Val) http://identifiers.org/clinvar/164815 ^@ NM_144672.3(OTOA):c.92-11C>A http://identifiers.org/clinvar/178497 ^@ NM_144672.3(OTOA):c.131T>C (p.Ile44Thr) http://identifiers.org/clinvar/164819 ^@ NM_144672.3(OTOA):c.739+11A>G http://identifiers.org/clinvar/179853 ^@ NM_170664.2(OTOA):c.-8A>G http://identifiers.org/clinvar/164821 ^@ NM_144672.3(OTOA):c.1104+12G>C http://identifiers.org/clinvar/180109 ^@ NM_144672.3(OTOA):c.1109A>G (p.Lys370Arg) http://identifiers.org/clinvar/179001 ^@ NM_144672.3(OTOA):c.1172C>T (p.Ser391Leu) http://identifiers.org/clinvar/178499 ^@ NM_144672.3(OTOA):c.1523T>C (p.Val508Ala) http://identifiers.org/clinvar/164825 ^@ NM_144672.3(OTOA):c.1880C>G (p.Pro627Arg) http://identifiers.org/clinvar/178500 ^@ NM_144672.3(OTOA):c.2019C>T (p.Asp673=) http://identifiers.org/clinvar/178501 ^@ NM_144672.3(OTOA):c.2207+9C>T http://identifiers.org/clinvar/164827 ^@ NM_144672.3(OTOA):c.2229C>T (p.Ala743=) http://identifiers.org/clinvar/162670 ^@ NM_001089.2(ABCA3):c.4668C>T (p.Thr1556=) http://identifiers.org/clinvar/162672 ^@ NM_001089.2(ABCA3):c.4116C= (p.Ser1372=) http://identifiers.org/clinvar/179931 ^@ NM_016239.3(MYO15A):c.3640C>A (p.Arg1214=) http://identifiers.org/clinvar/164514 ^@ NM_016239.3(MYO15A):c.3756C>T (p.Tyr1252=) http://identifiers.org/clinvar/180060 ^@ NM_016239.3(MYO15A):c.3866+12G>T http://identifiers.org/clinvar/164518 ^@ NM_016239.3(MYO15A):c.4038+7_4038+8delAG http://identifiers.org/clinvar/180121 ^@ NM_016239.3(MYO15A):c.4482+10C>T http://identifiers.org/clinvar/178441 ^@ NM_016239.3(MYO15A):c.4719G>A (p.Ala1573=) http://identifiers.org/clinvar/164524 ^@ NM_016239.3(MYO15A):c.4848C>G (p.Phe1616Leu) http://identifiers.org/clinvar/178442 ^@ NM_016239.3(MYO15A):c.5133+15A>G http://identifiers.org/clinvar/163996 ^@ NM_002458.2(MUC5B):c.1843+11C>G http://identifiers.org/clinvar/178789 ^@ NM_002458.2(MUC5B):c.2429C>A (p.Thr810Asn) http://identifiers.org/clinvar/178790 ^@ NM_002458.2(MUC5B):c.2631-9C>G http://identifiers.org/clinvar/164000 ^@ NM_002458.2(MUC5B):c.3928C>T (p.Pro1310Ser) http://identifiers.org/clinvar/178791 ^@ NM_002458.2(MUC5B):c.15218-4G>A http://identifiers.org/clinvar/164002 ^@ NM_002458.2(MUC5B):c.15477+11G>A http://identifiers.org/clinvar/164003 ^@ NM_002458.2(MUC5B):c.15478-13T>C http://identifiers.org/clinvar/164005 ^@ NM_002458.2(MUC5B):c.15817G>C (p.Ala5273Pro) http://identifiers.org/clinvar/178795 ^@ NM_002458.2(MUC5B):c.15972T>C (p.Leu5324=) http://identifiers.org/clinvar/164006 ^@ NM_002458.2(MUC5B):c.16053C>T (p.Thr5351=) http://identifiers.org/clinvar/164008 ^@ NM_002458.2(MUC5B):c.16137-7C>T http://identifiers.org/clinvar/164009 ^@ NM_002458.2(MUC5B):c.16306G>A (p.Val5436Met) http://identifiers.org/clinvar/178798 ^@ NM_002458.2(MUC5B):c.16450+8G>C http://identifiers.org/clinvar/164012 ^@ NM_002458.2(MUC5B):c.16713+10G>A http://identifiers.org/clinvar/178938 ^@ NM_153676.3(USH1C):c.2655+12G>A http://identifiers.org/clinvar/178560 ^@ NM_153676.3(USH1C):c.2547-8A>G http://identifiers.org/clinvar/178562 ^@ NM_153676.3(USH1C):c.2419G>A (p.Gly807Ser) http://identifiers.org/clinvar/179726 ^@ NM_153676.3(USH1C):c.2311G>A (p.Gly771Ser) http://identifiers.org/clinvar/178565 ^@ NM_153676.3(USH1C):c.2184+10T>C http://identifiers.org/clinvar/178566 ^@ NM_153676.3(USH1C):c.2014-1G>A http://identifiers.org/clinvar/166377 ^@ NM_153676.3(USH1C):c.1859G>T (p.Arg620Leu) http://identifiers.org/clinvar/166379 ^@ NM_153676.3(USH1C):c.1801C>A (p.Pro601Thr) http://identifiers.org/clinvar/166380 ^@ NM_153676.3(USH1C):c.1632C>T (p.Asp544=) http://identifiers.org/clinvar/166383 ^@ NM_153676.3(USH1C):c.1576G>A (p.Ala526Thr) http://identifiers.org/clinvar/166385 ^@ NM_153676.3(USH1C):c.1234G>A (p.Asp412Asn) http://identifiers.org/clinvar/179148 ^@ NM_005709.3(USH1C):c.1284+4C>T http://identifiers.org/clinvar/166388 ^@ NM_005709.3(USH1C):c.1086-13G>T http://identifiers.org/clinvar/178643 ^@ NM_005709.3(USH1C):c.946G>C (p.Glu316Gln) http://identifiers.org/clinvar/178642 ^@ NM_153676.3(USH1C):c.674+4G>A http://identifiers.org/clinvar/166394 ^@ NM_153676.3(USH1C):c.186T>C (p.Ile62=) http://identifiers.org/clinvar/163676 ^@ NM_181507.1(HPS5):c.3058+9A>G http://identifiers.org/clinvar/178779 ^@ NM_181507.1(HPS5):c.1165-15C>A http://identifiers.org/clinvar/163679 ^@ NM_181507.1(HPS5):c.85C>A (p.Arg29=) http://identifiers.org/clinvar/163005 ^@ NM_003476.4(CSRP3):c.579_582delAGAA (p.Lys193Asnfs) http://identifiers.org/clinvar/163007 ^@ NM_003476.4(CSRP3):c.536C>T (p.Thr179Met) http://identifiers.org/clinvar/178892 ^@ NM_003476.4(CSRP3):c.508+9T>C http://identifiers.org/clinvar/179500 ^@ NM_003476.4(CSRP3):c.334G>C (p.Ala112Pro) http://identifiers.org/clinvar/163012 ^@ NM_003476.4(CSRP3):c.265G>A (p.Gly89Ser) http://identifiers.org/clinvar/179089 ^@ NM_003476.4(CSRP3):c.-84A>G http://identifiers.org/clinvar/163732 ^@ NM_000218.2(KCNQ1):c.225T>C (p.Val75=) http://identifiers.org/clinvar/178384 ^@ NM_181798.1(KCNQ1):c.5+12G>A http://identifiers.org/clinvar/163735 ^@ NM_000218.2(KCNQ1):c.477+9C>T http://identifiers.org/clinvar/163737 ^@ NM_000218.2(KCNQ1):c.567G>T (p.Gly189=) http://identifiers.org/clinvar/163739 ^@ NM_000218.2(KCNQ1):c.781-14_781-13delGT http://identifiers.org/clinvar/179935 ^@ NM_000218.2(KCNQ1):c.948G>C (p.Gly316=) http://identifiers.org/clinvar/163742 ^@ NM_000218.2(KCNQ1):c.1394-8C>A http://identifiers.org/clinvar/162692 ^@ NM_005691.3(ABCC9):c.1012-7G>A http://identifiers.org/clinvar/179082 ^@ NM_005691.3(ABCC9):c.575G>A (p.Arg192Lys) http://identifiers.org/clinvar/179833 ^@ NM_005691.3(ABCC9):c.395A>G (p.Lys132Arg) http://identifiers.org/clinvar/162697 ^@ NM_005691.3(ABCC9):c.169C>T (p.Gln57Ter) http://identifiers.org/clinvar/179664 ^@ NM_005691.3(ABCC9):c.96C>T (p.Val32=) http://identifiers.org/clinvar/162700 ^@ NM_005691.3(ABCC9):c.47A>G (p.Asn16Ser) http://identifiers.org/clinvar/163759 ^@ NM_033360.3(KRAS):c.483G= (p.Arg161=) http://identifiers.org/clinvar/179108 ^@ NM_004985.4(KRAS):c.450+11C>G http://identifiers.org/clinvar/163762 ^@ NM_004985.4(KRAS):c.228G>A (p.Glu76=) http://identifiers.org/clinvar/177881 ^@ NM_004985.4(KRAS):c.183A>C (p.Gln61His) http://identifiers.org/clinvar/163766 ^@ NM_004985.4(KRAS):c.179G>T (p.Gly60Val) http://identifiers.org/clinvar/177714 ^@ NM_004985.4(KRAS):c.112-9C>T http://identifiers.org/clinvar/163769 ^@ NM_004985.4(KRAS):c.39C>A (p.Gly13=) http://identifiers.org/clinvar/177893 ^@ NM_004985.4(KRAS):c.-148_-137delAGTGGCGGCGGC http://identifiers.org/clinvar/163772 ^@ NM_004985.4(KRAS):c.-167A>G http://identifiers.org/clinvar/180048 ^@ NM_004572.3(PKP2):c.2554G>A (p.Glu852Lys) http://identifiers.org/clinvar/177995 ^@ NM_004572.3(PKP2):c.2509delA (p.Ser837Valfs) http://identifiers.org/clinvar/178879 ^@ NM_004572.3(PKP2):c.2484C>T (p.Gly828=) http://identifiers.org/clinvar/179097 ^@ NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) http://identifiers.org/clinvar/179929 ^@ NM_004572.3(PKP2):c.2133C>T (p.Ala711=) http://identifiers.org/clinvar/164956 ^@ NM_004572.3(PKP2):c.1926C>A (p.Asn642Lys) http://identifiers.org/clinvar/179991 ^@ NM_004572.3(PKP2):c.1671C>T (p.Asn557=) http://identifiers.org/clinvar/179026 ^@ NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) http://identifiers.org/clinvar/179952 ^@ NM_004572.3(PKP2):c.1287C>T (p.Asn429=) http://identifiers.org/clinvar/178107 ^@ NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) http://identifiers.org/clinvar/164966 ^@ NM_004572.3(PKP2):c.714G>A (p.Pro238=) http://identifiers.org/clinvar/179771 ^@ NM_004572.3(PKP2):c.558C>T (p.Ala186=) http://identifiers.org/clinvar/178453 ^@ NM_005379.3(MYO1A):c.3091A>G (p.Lys1031Glu) http://identifiers.org/clinvar/178845 ^@ NM_005379.3(MYO1A):c.2920G>A (p.Glu974Lys) http://identifiers.org/clinvar/164579 ^@ NM_005379.3(MYO1A):c.2872A>G (p.Ser958Gly) http://identifiers.org/clinvar/164581 ^@ NM_005379.3(MYO1A):c.2724+7G>A http://identifiers.org/clinvar/178952 ^@ NM_005379.3(MYO1A):c.2499G>T (p.Arg833=) http://identifiers.org/clinvar/164583 ^@ NM_005379.3(MYO1A):c.2341A>G (p.Lys781Glu) http://identifiers.org/clinvar/164585 ^@ NM_005379.3(MYO1A):c.2238C>T (p.Ser746=) http://identifiers.org/clinvar/164587 ^@ NM_005379.3(MYO1A):c.2082C>G (p.Arg694=) http://identifiers.org/clinvar/164589 ^@ NM_005379.3(MYO1A):c.1928G>A (p.Arg643Gln) http://identifiers.org/clinvar/164591 ^@ NM_005379.3(MYO1A):c.1770G>A (p.Lys590=) http://identifiers.org/clinvar/164593 ^@ NM_005379.3(MYO1A):c.1667C>T (p.Ser556Phe) http://identifiers.org/clinvar/180036 ^@ NM_005379.3(MYO1A):c.1333-8C>T http://identifiers.org/clinvar/178955 ^@ NM_005379.3(MYO1A):c.1055G>A (p.Arg352His) http://identifiers.org/clinvar/164596 ^@ NM_005379.3(MYO1A):c.771G>A (p.Ser257=) http://identifiers.org/clinvar/164598 ^@ NM_005379.3(MYO1A):c.541+12C>T http://identifiers.org/clinvar/178456 ^@ NM_005379.3(MYO1A):c.376G>A (p.Glu126Lys) http://identifiers.org/clinvar/178458 ^@ NM_005379.3(MYO1A):c.92G>A (p.Arg31His) http://identifiers.org/clinvar/165164 ^@ NM_001038.5(SCNN1A):c.1987A>G (p.Thr663Ala) http://identifiers.org/clinvar/165166 ^@ NM_001159576.1(SCNN1A):c.593+3C>T http://identifiers.org/clinvar/163979 ^@ NM_001193460.1(MSRB3):c.180C>T (p.Thr60=) http://identifiers.org/clinvar/178616 ^@ NM_001193460.1(MSRB3):c.486G>A (p.Ala162=) http://identifiers.org/clinvar/179033 ^@ NM_001032283.2(TMPO):c.225G>A (p.Pro75=) http://identifiers.org/clinvar/178141 ^@ NM_003276.2(TMPO):c.686C>T (p.Thr229Ile) http://identifiers.org/clinvar/165468 ^@ NM_003276.2(TMPO):c.909G>T (p.Met303Ile) http://identifiers.org/clinvar/178142 ^@ NM_003276.2(TMPO):c.1222A>G (p.Ile408Val) http://identifiers.org/clinvar/165470 ^@ NM_003276.2(TMPO):c.1429G>A (p.Ala477Thr) http://identifiers.org/clinvar/178144 ^@ NM_003276.2(TMPO):c.1805A>G (p.Gln602Arg) http://identifiers.org/clinvar/179561 ^@ NM_001032283.2(TMPO):c.614G>A (p.Arg205Lys) http://identifiers.org/clinvar/179241 ^@ NM_001032283.2(TMPO):c.681A>G (p.Gly227=) http://identifiers.org/clinvar/165477 ^@ NM_001032283.2(TMPO):c.1119G>A (p.Arg373=) http://identifiers.org/clinvar/165478 ^@ NM_001032283.2(TMPO):c.*1A>G http://identifiers.org/clinvar/179318 ^@ NM_004004.5(GJB2):c.470T>C (p.Met157Thr) http://identifiers.org/clinvar/177737 ^@ NM_004004.5(GJB2):c.269dupT (p.Val91Serfs) http://identifiers.org/clinvar/177735 ^@ NM_004004.5(GJB2):c.239A>C (p.Gln80Pro) http://identifiers.org/clinvar/177751 ^@ NM_004004.5(GJB2):c.188T>C (p.Val63Ala) http://identifiers.org/clinvar/179256 ^@ NM_004004.5(GJB2):c.109G>T (p.Val37Phe) http://identifiers.org/clinvar/178348 ^@ NM_004004.5(GJB2):c.21G>A (p.Gln7=) http://identifiers.org/clinvar/163525 ^@ NM_004004.5(GJB2):c.-216T>G http://identifiers.org/clinvar/163538 ^@ NM_006783.4(GJB6):c.117T>C (p.Ala39=) http://identifiers.org/clinvar/165296 ^@ NC_000015.10:g.(?_43600534)_(43601014_?)del http://identifiers.org/clinvar/162825 ^@ NM_172095.2(CATSPER2):c.(?_718)-34_(843_?)-857del http://identifiers.org/clinvar/164814 ^@ NM_144672.3(OTOA):c.(?_2302)_(2431_?)del (p.(?)) http://identifiers.org/clinvar/163000 ^@ NM_001888.4(CRYM):c.907G>A (p.Ala303Thr) http://identifiers.org/clinvar/179999 ^@ NM_001888.4(CRYM):c.761C>T (p.Ala254Val) http://identifiers.org/clinvar/179644 ^@ NM_001888.4(CRYM):c.523_524delGAinsTT (p.Glu175Leu) http://identifiers.org/clinvar/178331 ^@ NM_001888.4(CRYM):c.108C>A (p.Ser36Arg) http://identifiers.org/clinvar/164816 ^@ NM_144672.3(OTOA):c.120+10C>G http://identifiers.org/clinvar/178498 ^@ NM_144672.3(OTOA):c.660C>T (p.Tyr220=) http://identifiers.org/clinvar/164820 ^@ NM_144672.3(OTOA):c.851T>C (p.Phe284Ser) http://identifiers.org/clinvar/164817 ^@ NM_144672.3(OTOA):c.1095C>T (p.Gly365=) http://identifiers.org/clinvar/164822 ^@ NM_144672.3(OTOA):c.1105-10C>T http://identifiers.org/clinvar/178846 ^@ NM_144672.3(OTOA):c.1141C>G (p.Gln381Glu) http://identifiers.org/clinvar/164823 ^@ NM_144672.3(OTOA):c.1500G>C (p.Ala500=) http://identifiers.org/clinvar/164824 ^@ NM_144672.3(OTOA):c.1688+1G>T http://identifiers.org/clinvar/164826 ^@ NM_144672.3(OTOA):c.1880+1G>A http://identifiers.org/clinvar/178502 ^@ NM_144672.3(OTOA):c.2120C>T (p.Ala707Val) http://identifiers.org/clinvar/179779 ^@ NM_144672.3(OTOA):c.2222G>C (p.Trp741Ser) http://identifiers.org/clinvar/164828 ^@ NM_144672.3(OTOA):c.3377T>C (p.Leu1126Pro) http://identifiers.org/clinvar/162671 ^@ NM_001089.2(ABCA3):c.4617C>T (p.Asp1539=) http://identifiers.org/clinvar/179123 ^@ NM_144997.5(FLCN):c.446delG (p.Gly149Alafs) http://identifiers.org/clinvar/164513 ^@ NM_016239.3(MYO15A):c.3658G>A (p.Gly1220Arg) http://identifiers.org/clinvar/178440 ^@ NM_016239.3(MYO15A):c.3774C>T (p.Ile1258=) http://identifiers.org/clinvar/164517 ^@ NM_016239.3(MYO15A):c.3909C>T (p.Leu1303=) http://identifiers.org/clinvar/164519 ^@ NM_016239.3(MYO15A):c.4039-15C>T http://identifiers.org/clinvar/164521 ^@ NM_016239.3(MYO15A):c.4655+11G>A http://identifiers.org/clinvar/179930 ^@ NM_016239.3(MYO15A):c.4777G>A (p.Glu1593Lys) http://identifiers.org/clinvar/162971 ^@ NM_004086.2(COCH):c.239+7C>G http://identifiers.org/clinvar/178988 ^@ NM_004086.2(COCH):c.263G>T (p.Gly88Val) http://identifiers.org/clinvar/163091 ^@ NM_018139.2(DNAAF2):c.2303A>G (p.Asp768Gly) http://identifiers.org/clinvar/179361 ^@ NM_018139.2(DNAAF2):c.727G>T (p.Glu243Ter) http://identifiers.org/clinvar/163172 ^@ NM_031427.3(DNAL1):c.532+11C>T http://identifiers.org/clinvar/178342 ^@ NM_004452.3(ESRRB):c.143C>T (p.Ala48Val) http://identifiers.org/clinvar/179615 ^@ NM_004452.3(ESRRB):c.626-10G>A http://identifiers.org/clinvar/163420 ^@ NM_004452.3(ESRRB):c.702G>A (p.Glu234=) http://identifiers.org/clinvar/178343 ^@ NM_004452.3(ESRRB):c.1113C>T (p.His371=) http://identifiers.org/clinvar/178970 ^@ NM_004452.3(ESRRB):c.1205_1209delCGGCC (p.Thr402Serfs) http://identifiers.org/clinvar/163424 ^@ NM_004452.3(ESRRB):c.1409C>T (p.Pro470Leu) http://identifiers.org/clinvar/163455 ^@ NM_006329.3(FBLN5):c.989+13G>A http://identifiers.org/clinvar/163456 ^@ NM_006329.3(FBLN5):c.863-13C>T http://identifiers.org/clinvar/165186 ^@ NM_000295.4(SERPINA1):c.774G>A (p.Lys258=) http://identifiers.org/clinvar/165295 ^@ NC_000015.10:g.(?_43599672)_(43618722_?)del http://identifiers.org/clinvar/163458 ^@ NM_000138.4(FBN1):c.(?_5475)_(5542_?)del (p.(?)) http://identifiers.org/clinvar/179882 ^@ NM_005159.4(ACTC1):c.1039A>G (p.Ile347Val) http://identifiers.org/clinvar/177786 ^@ NM_005159.4(ACTC1):c.793C>G (p.Gln265Glu) http://identifiers.org/clinvar/180075 ^@ NM_005159.4(ACTC1):c.739G>A (p.Gly247Ser) http://identifiers.org/clinvar/177748 ^@ NM_005159.4(ACTC1):c.383C>T (p.Thr128Ile) http://identifiers.org/clinvar/177917 ^@ NM_005159.4(ACTC1):c.76G>A (p.Asp26Asn) http://identifiers.org/clinvar/165293 ^@ NM_152594.2(SPRED1):c.702C>G (p.Ile234Met) http://identifiers.org/clinvar/165298 ^@ NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) http://identifiers.org/clinvar/165300 ^@ NM_153700.2(STRC):c.4919T>G (p.Leu1640Arg) http://identifiers.org/clinvar/178634 ^@ NM_153700.2(STRC):c.4878C>G (p.Leu1626=) http://identifiers.org/clinvar/178635 ^@ NM_153700.2(STRC):c.4845-13T>C http://identifiers.org/clinvar/165302 ^@ NM_153700.2(STRC):c.4796_4800delGTGGA (p.Cys1599Serfs) http://identifiers.org/clinvar/165305 ^@ NM_153700.2(STRC):c.4701+1G>A http://identifiers.org/clinvar/165306 ^@ NM_153700.2(STRC):c.4561C>T (p.Arg1521Trp) http://identifiers.org/clinvar/165308 ^@ NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) http://identifiers.org/clinvar/165309 ^@ NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr) http://identifiers.org/clinvar/165311 ^@ NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) http://identifiers.org/clinvar/165312 ^@ NM_153700.2(STRC):c.3893A>G (p.His1298Arg) http://identifiers.org/clinvar/165313 ^@ NM_153700.2(STRC):c.3702G>A (p.Glu1234=) http://identifiers.org/clinvar/179717 ^@ NM_153700.2(STRC):c.3484delT (p.Trp1162Glyfs) http://identifiers.org/clinvar/165316 ^@ NM_153700.2(STRC):c.3307-16dupA http://identifiers.org/clinvar/165320 ^@ NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) http://identifiers.org/clinvar/165319 ^@ NM_153700.2(STRC):c.911C>T (p.Ala304Val) http://identifiers.org/clinvar/165323 ^@ NM_153700.2(STRC):c.678A>T (p.Thr226=) http://identifiers.org/clinvar/165325 ^@ NM_153700.2(STRC):c.333G>T (p.Gly111=) http://identifiers.org/clinvar/179129 ^@ NM_000138.4(FBN1):c.8265_8266delTTinsAGGA (p.Ser2755Argfs) http://identifiers.org/clinvar/163462 ^@ NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) http://identifiers.org/clinvar/163464 ^@ NM_000138.4(FBN1):c.6997+4A>G http://identifiers.org/clinvar/179532 ^@ NM_000138.4(FBN1):c.6690C>G (p.Cys2230Trp) http://identifiers.org/clinvar/180039 ^@ NM_000138.4(FBN1):c.6354C>G (p.Ile2118Met) http://identifiers.org/clinvar/177768 ^@ NM_000138.4(FBN1):c.5888delA (p.Glu1963Glyfs) http://identifiers.org/clinvar/178599 ^@ NM_000138.4(FBN1):c.5066-14dupT http://identifiers.org/clinvar/163474 ^@ NM_000138.4(FBN1):c.4675_4718del44 (p.Lys1559Leufs) http://identifiers.org/clinvar/177940 ^@ NM_000138.4(FBN1):c.3546C>A (p.Cys1182Ter) http://identifiers.org/clinvar/177648 ^@ NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg) http://identifiers.org/clinvar/163480 ^@ NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) http://identifiers.org/clinvar/177856 ^@ NM_000138.4(FBN1):c.1036T>C (p.Ser346Pro) http://identifiers.org/clinvar/178035 ^@ NM_000138.4(FBN1):c.247+10T>C http://identifiers.org/clinvar/163486 ^@ NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) http://identifiers.org/clinvar/177900 ^@ NM_001018005.1(TPM1):c.58G>A (p.Asp20Asn) http://identifiers.org/clinvar/177761 ^@ NM_000366.5(TPM1):c.343G>A (p.Glu115Lys) http://identifiers.org/clinvar/165566 ^@ NM_000366.5(TPM1):c.389T>C (p.Ile130Thr) http://identifiers.org/clinvar/179674 ^@ NM_000366.5(TPM1):c.458A>G (p.His153Arg) http://identifiers.org/clinvar/165570 ^@ NM_001018005.1(TPM1):c.564-11G>A http://identifiers.org/clinvar/177845 ^@ NM_001018005.1(TPM1):c.762T>G (p.Asp254Glu) http://identifiers.org/clinvar/178148 ^@ NM_001018005.1(TPM1):c.797A>G (p.Lys266Arg) http://identifiers.org/clinvar/178149 ^@ NM_001018005.1(TPM1):c.851+6C>T http://identifiers.org/clinvar/179368 ^@ NM_002755.3(MAP2K1):c.323G>A (p.Arg108Gln) http://identifiers.org/clinvar/178863 ^@ NC_000016.10:g.(?_21678515)_(21760540_?)del http://identifiers.org/clinvar/178696 ^@ NM_001089.2(ABCA3):c.2296C>T (p.Pro766Ser) http://identifiers.org/clinvar/162674 ^@ NM_001089.2(ABCA3):c.2125C>T (p.Arg709Trp) http://identifiers.org/clinvar/178699 ^@ NM_001089.2(ABCA3):c.1549G>A (p.Glu517Lys) http://identifiers.org/clinvar/178698 ^@ NM_001089.2(ABCA3):c.1059C>T (p.Phe353=) http://identifiers.org/clinvar/165173 ^@ NM_001039.3(SCNN1G):c.474T>C (p.Ile158=) http://identifiers.org/clinvar/178805 ^@ NM_001039.3(SCNN1G):c.636C>T (p.Ser212=) http://identifiers.org/clinvar/165176 ^@ NM_001039.3(SCNN1G):c.1176+14A>G http://identifiers.org/clinvar/165177 ^@ NM_001039.3(SCNN1G):c.1947C>G (p.Leu649=) http://identifiers.org/clinvar/162675 ^@ NM_001089.2(ABCA3):c.447+11C>T http://identifiers.org/clinvar/165167 ^@ NM_000336.2(SCNN1B):c.279T>C (p.Pro93=) http://identifiers.org/clinvar/178803 ^@ NM_000336.2(SCNN1B):c.1221A>G (p.Pro407=) http://identifiers.org/clinvar/178804 ^@ NM_000336.2(SCNN1B):c.1325G>T (p.Gly442Val) http://identifiers.org/clinvar/165170 ^@ NM_000336.2(SCNN1B):c.1467-14G>A http://identifiers.org/clinvar/163015 ^@ NM_001330.3(CTF1):c.26-12C>G http://identifiers.org/clinvar/163017 ^@ NM_001330.3(CTF1):c.275C>A (p.Ala92Glu) http://identifiers.org/clinvar/179780 ^@ NM_001330.3(CTF1):c.414C>A (p.Ala138=) http://identifiers.org/clinvar/163080 ^@ NM_178452.5(DNAAF1):c.228C>T (p.His76=) http://identifiers.org/clinvar/179948 ^@ NM_178452.5(DNAAF1):c.864-17_864-14delCTTT http://identifiers.org/clinvar/178720 ^@ NM_178452.5(DNAAF1):c.988C>A (p.Arg330=) http://identifiers.org/clinvar/163085 ^@ NM_178452.5(DNAAF1):c.1769C>T (p.Thr590Met) http://identifiers.org/clinvar/163087 ^@ NM_178452.5(DNAAF1):c.1898T>C (p.Leu633Ser) http://identifiers.org/clinvar/163089 ^@ NM_178452.5(DNAAF1):c.1976T>C (p.Leu659Pro) http://identifiers.org/clinvar/163081 ^@ NC_000016.9:g.(?_84178865)_(84211524_?)del http://identifiers.org/clinvar/166807 ^@ NM_017950.3(CCDC40):c.207G>C (p.Val69=) http://identifiers.org/clinvar/178782 ^@ NM_001042544.1(LTBP4):c.3422C>T (p.Thr1141Met) http://identifiers.org/clinvar/163950 ^@ NM_003573.2(LTBP4):c.3777C>T (p.Asp1259=) http://identifiers.org/clinvar/177876 ^@ NM_030662.3(MAP2K2):c.806C>G (p.Pro269Arg) http://identifiers.org/clinvar/179367 ^@ NM_030662.3(MAP2K2):c.639C>T (p.Phe213=) http://identifiers.org/clinvar/163958 ^@ NM_030662.3(MAP2K2):c.564C>T (p.His188=) http://identifiers.org/clinvar/177868 ^@ NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) http://identifiers.org/clinvar/177969 ^@ NM_030662.3(MAP2K2):c.303+8C>G http://identifiers.org/clinvar/179389 ^@ NM_030662.3(MAP2K2):c.93-6C>T http://identifiers.org/clinvar/162790 ^@ NM_212550.4(BLOC1S3):c.270G>A (p.Ala90=) http://identifiers.org/clinvar/162792 ^@ NM_212550.4(BLOC1S3):c.366C>T (p.His122=) http://identifiers.org/clinvar/178410 ^@ NM_001145809.1(MYH14):c.394G>A (p.Gly132Ser) http://identifiers.org/clinvar/178411 ^@ NM_024729.3(MYH14):c.565C>T (p.Arg189Cys) http://identifiers.org/clinvar/164165 ^@ NM_001145809.1(MYH14):c.660G>T (p.Ser220=) http://identifiers.org/clinvar/178412 ^@ NM_001145809.1(MYH14):c.820A>G (p.Ile274Val) http://identifiers.org/clinvar/164169 ^@ NM_001145809.1(MYH14):c.949G>A (p.Gly317Arg) http://identifiers.org/clinvar/179970 ^@ NM_001145809.1(MYH14):c.1095C>A (p.Phe365Leu) http://identifiers.org/clinvar/164172 ^@ NM_001145809.1(MYH14):c.1265C>G (p.Ala422Gly) http://identifiers.org/clinvar/178415 ^@ NM_001145809.1(MYH14):c.1329+15C>T http://identifiers.org/clinvar/178953 ^@ NM_001145809.1(MYH14):c.1625T>G (p.Leu542Arg) http://identifiers.org/clinvar/180008 ^@ NM_001145809.1(MYH14):c.1655C>T (p.Pro552Leu) http://identifiers.org/clinvar/164179 ^@ NM_024729.3(MYH14):c.2211C>A (p.Leu737=) http://identifiers.org/clinvar/164181 ^@ NM_001145809.1(MYH14):c.2840G>A (p.Arg947His) http://identifiers.org/clinvar/178418 ^@ NM_001145809.1(MYH14):c.3475G>T (p.Asp1159Tyr) http://identifiers.org/clinvar/178419 ^@ NM_001145809.1(MYH14):c.3585G>A (p.Ala1195=) http://identifiers.org/clinvar/164186 ^@ NM_001145809.1(MYH14):c.3777C>T (p.His1259=) http://identifiers.org/clinvar/179510 ^@ NM_001145809.1(MYH14):c.4088G>A (p.Arg1363His) http://identifiers.org/clinvar/179582 ^@ NM_001145809.1(MYH14):c.4152G>A (p.Glu1384=) http://identifiers.org/clinvar/164191 ^@ NM_001145809.1(MYH14):c.4259C>T (p.Ala1420Val) http://identifiers.org/clinvar/164190 ^@ NM_001145809.1(MYH14):c.4370G>A (p.Arg1457Gln) http://identifiers.org/clinvar/164193 ^@ NM_001145809.1(MYH14):c.4439G>A (p.Arg1480His) http://identifiers.org/clinvar/179746 ^@ NM_001145809.1(MYH14):c.4486C>G (p.Gln1496Glu) http://identifiers.org/clinvar/178420 ^@ NM_001145809.1(MYH14):c.4586G>A (p.Arg1529His) http://identifiers.org/clinvar/178421 ^@ NM_001145809.1(MYH14):c.4685G>A (p.Arg1562Gln) http://identifiers.org/clinvar/164200 ^@ NM_001145809.1(MYH14):c.4943G>A (p.Arg1648Lys) http://identifiers.org/clinvar/164202 ^@ NM_001145809.1(MYH14):c.5083G>C (p.Gly1695Arg) http://identifiers.org/clinvar/164204 ^@ NM_001145809.1(MYH14):c.5128-12C>T http://identifiers.org/clinvar/178617 ^@ NM_001145809.1(MYH14):c.5281C>A (p.Arg1761=) http://identifiers.org/clinvar/178423 ^@ NM_001145809.1(MYH14):c.5446C>T (p.Arg1816Cys) http://identifiers.org/clinvar/164207 ^@ NM_001145809.1(MYH14):c.5959C>T (p.Arg1987Ter) http://identifiers.org/clinvar/164209 ^@ NM_001145809.1(MYH14):c.6088T>A (p.Ser2030Thr) http://identifiers.org/clinvar/180077 ^@ NM_000363.4(TNNI3):c.613A>C (p.Lys205Gln) http://identifiers.org/clinvar/177631 ^@ NM_000363.4(TNNI3):c.610C>T (p.Arg204Cys) http://identifiers.org/clinvar/177694 ^@ NM_000363.4(TNNI3):c.592C>G (p.Leu198Val) http://identifiers.org/clinvar/177831 ^@ NM_000363.4(TNNI3):c.575G>T (p.Arg192Leu) http://identifiers.org/clinvar/165510 ^@ NM_000363.4(TNNI3):c.574C>T (p.Arg192Cys) http://identifiers.org/clinvar/179710 ^@ NM_000363.4(TNNI3):c.559G>A (p.Glu187Lys) http://identifiers.org/clinvar/165514 ^@ NM_000363.4(TNNI3):c.525G>C (p.Gln175His) http://identifiers.org/clinvar/179285 ^@ NM_000363.4(TNNI3):c.508C>T (p.Arg170Trp) http://identifiers.org/clinvar/177630 ^@ NM_000363.4(TNNI3):c.497C>T (p.Ser166Phe) http://identifiers.org/clinvar/165518 ^@ NM_000363.4(TNNI3):c.401A>G (p.Asp134Gly) http://identifiers.org/clinvar/165520 ^@ NM_000363.4(TNNI3):c.370G>C (p.Glu124Gln) http://identifiers.org/clinvar/164403 ^@ NM_000257.3(MYH7):c.293A>T (p.Glu98Val) http://identifiers.org/clinvar/177946 ^@ NM_000257.3(MYH7):c.184G>A (p.Glu62Lys) http://identifiers.org/clinvar/164407 ^@ NM_000257.3(MYH7):c.50G>A (p.Arg17His) http://identifiers.org/clinvar/180057 ^@ NM_000257.3(MYH7):c.28G>A (p.Gly10Arg) http://identifiers.org/clinvar/178319 ^@ NM_004086.2(COCH):c.141T>C (p.Asp47=) http://identifiers.org/clinvar/177681 ^@ NM_004086.2(COCH):c.239+78T>C http://identifiers.org/clinvar/162972 ^@ NM_004086.2(COCH):c.1553A>G (p.Glu518Gly) http://identifiers.org/clinvar/163092 ^@ NM_018139.2(DNAAF2):c.2212A>G (p.Met738Val) http://identifiers.org/clinvar/178765 ^@ NM_031427.3(DNAL1):c.415C>G (p.Leu139Val) http://identifiers.org/clinvar/163416 ^@ NM_004452.3(ESRRB):c.16A>G (p.Arg6Gly) http://identifiers.org/clinvar/163419 ^@ NM_004452.3(ESRRB):c.397+4C>T http://identifiers.org/clinvar/179278 ^@ NM_004452.3(ESRRB):c.663G>A (p.Pro221=) http://identifiers.org/clinvar/163421 ^@ NM_004452.3(ESRRB):c.1057+8C>T http://identifiers.org/clinvar/163423 ^@ NM_004452.3(ESRRB):c.1161G>A (p.Trp387Ter) http://identifiers.org/clinvar/178344 ^@ NM_004452.3(ESRRB):c.1296+13C>T http://identifiers.org/clinvar/163425 ^@ NM_004452.3(ESRRB):c.1438C>T (p.Pro480Ser) http://identifiers.org/clinvar/163450 ^@ NM_006329.3(FBLN5):c.945T>C (p.Ile315=) http://identifiers.org/clinvar/165185 ^@ NM_000295.4(SERPINA1):c.840T>C (p.Asp280=) http://identifiers.org/clinvar/178806 ^@ NM_000295.4(SERPINA1):c.424C>T (p.Leu142=) http://identifiers.org/clinvar/165297 ^@ NC_000015.10:g.(?_43600534)_(43605399_?)del http://identifiers.org/clinvar/177944 ^@ NM_005159.4(ACTC1):c.*3T>C http://identifiers.org/clinvar/177886 ^@ NM_005159.4(ACTC1):c.866T>C (p.Ile289Thr) http://identifiers.org/clinvar/162706 ^@ NM_005159.4(ACTC1):c.756T>G (p.Ile252Met) http://identifiers.org/clinvar/179863 ^@ NM_005159.4(ACTC1):c.622C>T (p.Arg208Cys) http://identifiers.org/clinvar/162708 ^@ NM_005159.4(ACTC1):c.165C>T (p.Tyr55=) http://identifiers.org/clinvar/179219 ^@ NM_152594.2(SPRED1):c.27C>T (p.Asp9=) http://identifiers.org/clinvar/178134 ^@ NM_152594.2(SPRED1):c.926T>C (p.Val309Ala) http://identifiers.org/clinvar/178529 ^@ NM_153700.2(STRC):c.5179G>C (p.Glu1727Gln) http://identifiers.org/clinvar/165301 ^@ NM_153700.2(STRC):c.4917_4918delACinsCT (p.Leu1640Phe) http://identifiers.org/clinvar/165299 ^@ NM_153700.2(STRC):c.4863C>G (p.Leu1621=) http://identifiers.org/clinvar/177982 ^@ NM_153700.2(STRC):c.4842C>T (p.Phe1614=) http://identifiers.org/clinvar/165303 ^@ NM_153700.2(STRC):c.4702-3delC http://identifiers.org/clinvar/165304 ^@ NM_153700.2(STRC):c.4562G>A (p.Arg1521Gln) http://identifiers.org/clinvar/178530 ^@ NM_153700.2(STRC):c.4546-13G>C http://identifiers.org/clinvar/179758 ^@ NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) http://identifiers.org/clinvar/165310 ^@ NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter) http://identifiers.org/clinvar/165307 ^@ NM_153700.2(STRC):c.4035G>C (p.Leu1345=) http://identifiers.org/clinvar/165314 ^@ NM_153700.2(STRC):c.3817T>C (p.Ser1273Pro) http://identifiers.org/clinvar/165315 ^@ NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) http://identifiers.org/clinvar/165317 ^@ NM_153700.2(STRC):c.3307-5T>G http://identifiers.org/clinvar/165318 ^@ NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) http://identifiers.org/clinvar/165321 ^@ NM_153700.2(STRC):c.3100-10C>T http://identifiers.org/clinvar/165322 ^@ NM_153700.2(STRC):c.880G>A (p.Val294Ile) http://identifiers.org/clinvar/165324 ^@ NM_153700.2(STRC):c.498G>A (p.Pro166=) http://identifiers.org/clinvar/178674 ^@ NM_000138.4(FBN1):c.8473_8475delGGA (p.Gly2825del) http://identifiers.org/clinvar/163461 ^@ NM_000138.4(FBN1):c.8080C>T (p.Arg2694Ter) http://identifiers.org/clinvar/178034 ^@ NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg) http://identifiers.org/clinvar/177938 ^@ NM_000138.4(FBN1):c.6886C>T (p.Gln2296Ter) http://identifiers.org/clinvar/163467 ^@ NM_000138.4(FBN1):c.6509G>A (p.Cys2170Tyr) http://identifiers.org/clinvar/179119 ^@ NM_000138.4(FBN1):c.5959G>C (p.Gly1987Arg) http://identifiers.org/clinvar/177833 ^@ NM_000138.4(FBN1):c.5066delA (p.Asp1689Valfs) http://identifiers.org/clinvar/178929 ^@ NM_000138.4(FBN1):c.5065+10A>G http://identifiers.org/clinvar/179244 ^@ NM_000138.4(FBN1):c.3589G>C (p.Asp1197His) http://identifiers.org/clinvar/179632 ^@ NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) http://identifiers.org/clinvar/179765 ^@ NM_000138.4(FBN1):c.2942G>C (p.Cys981Ser) http://identifiers.org/clinvar/179300 ^@ NM_000138.4(FBN1):c.1335dupG (p.Pro446Alafs) http://identifiers.org/clinvar/179992 ^@ NM_000138.4(FBN1):c.660delC (p.Cys221Valfs) http://identifiers.org/clinvar/163485 ^@ NM_000138.4(FBN1):c.164+2T>C http://identifiers.org/clinvar/177702 ^@ NM_001018005.1(TPM1):c.46G>C (p.Glu16Gln) http://identifiers.org/clinvar/178826 ^@ NM_001018020.1(TPM1):c.138G>A (p.Lys46=) http://identifiers.org/clinvar/178146 ^@ NM_000366.5(TPM1):c.375-3C>T http://identifiers.org/clinvar/177896 ^@ NM_000366.5(TPM1):c.416A>T (p.Glu139Val) http://identifiers.org/clinvar/177659 ^@ NM_000366.5(TPM1):c.559G>C (p.Glu187Gln) http://identifiers.org/clinvar/165571 ^@ NM_001018005.1(TPM1):c.655G>A (p.Asp219Asn) http://identifiers.org/clinvar/178147 ^@ NM_000366.5(TPM1):c.768A>G (p.Leu256=) http://identifiers.org/clinvar/165575 ^@ NM_000366.5(TPM1):c.815A>C (p.Glu272Ala) http://identifiers.org/clinvar/177942 ^@ NM_002755.3(MAP2K1):c.56C>G (p.Ala19Gly) http://identifiers.org/clinvar/179898 ^@ NM_002755.3(MAP2K1):c.631G>A (p.Val211Ile) http://identifiers.org/clinvar/178695 ^@ NM_001089.2(ABCA3):c.2199C>T (p.Ile733=) http://identifiers.org/clinvar/178697 ^@ NM_001089.2(ABCA3):c.1755C>G (p.Pro585=) http://identifiers.org/clinvar/178700 ^@ NM_001089.2(ABCA3):c.1502C>A (p.Ala501Glu) http://identifiers.org/clinvar/165172 ^@ NM_001039.3(SCNN1G):c.387T>C (p.Tyr129=) http://identifiers.org/clinvar/165174 ^@ NM_001039.3(SCNN1G):c.549C>T (p.Gly183=) http://identifiers.org/clinvar/162673 ^@ NM_001089.2(ABCA3):c.681C>T (p.Ala227=) http://identifiers.org/clinvar/165175 ^@ NM_001039.3(SCNN1G):c.1432-7G>A http://identifiers.org/clinvar/178701 ^@ NM_001089.2(ABCA3):c.450G>A (p.Val150=) http://identifiers.org/clinvar/162676 ^@ NM_001089.2(ABCA3):c.367G>A (p.Asp123Asn) http://identifiers.org/clinvar/178802 ^@ NM_000336.2(SCNN1B):c.879C>T (p.Phe293=) http://identifiers.org/clinvar/165168 ^@ NM_000336.2(SCNN1B):c.1305G>A (p.Ala435=) http://identifiers.org/clinvar/165169 ^@ NM_000336.2(SCNN1B):c.1401C>T (p.Ser467=) http://identifiers.org/clinvar/165171 ^@ NM_000336.2(SCNN1B):c.1765G>A (p.Gly589Ser) http://identifiers.org/clinvar/179390 ^@ NM_001330.3(CTF1):c.102G>A (p.Ala34=) http://identifiers.org/clinvar/163018 ^@ NM_001330.3(CTF1):c.319C>T (p.Arg107Cys) http://identifiers.org/clinvar/166563 ^@ NM_024006.5(VKORC1):c.-1639G= http://identifiers.org/clinvar/163082 ^@ NM_178452.5(DNAAF1):c.780G>C (p.Gln260His) http://identifiers.org/clinvar/163083 ^@ NM_178452.5(DNAAF1):c.919C>G (p.Gln307Glu) http://identifiers.org/clinvar/163084 ^@ NM_178452.5(DNAAF1):c.1698+7G>T http://identifiers.org/clinvar/163086 ^@ NM_178452.5(DNAAF1):c.1794C>G (p.Leu598=) http://identifiers.org/clinvar/163088 ^@ NM_178452.5(DNAAF1):c.1975C>G (p.Leu659Val) http://identifiers.org/clinvar/163090 ^@ NM_178452.5(DNAAF1):c.2024G>C (p.Ser675Thr) http://identifiers.org/clinvar/163948 ^@ NM_001042544.1(LTBP4):c.3267C>T (p.Cys1089=) http://identifiers.org/clinvar/163949 ^@ NM_001042544.1(LTBP4):c.3459C>T (p.Pro1153=) http://identifiers.org/clinvar/177843 ^@ NM_030662.3(MAP2K2):c.985C>T (p.Pro329Ser) http://identifiers.org/clinvar/177860 ^@ NM_030662.3(MAP2K2):c.658A>G (p.Ile220Val) http://identifiers.org/clinvar/179899 ^@ NM_030662.3(MAP2K2):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/178864 ^@ NM_030662.3(MAP2K2):c.450+13G>A http://identifiers.org/clinvar/163959 ^@ NM_030662.3(MAP2K2):c.384G>A (p.Pro128=) http://identifiers.org/clinvar/163960 ^@ NM_030662.3(MAP2K2):c.169T>A (p.Phe57Ile) http://identifiers.org/clinvar/178706 ^@ NM_212550.4(BLOC1S3):c.92C>T (p.Ala31Val) http://identifiers.org/clinvar/179946 ^@ NM_212550.4(BLOC1S3):c.322C>G (p.Leu108Val) http://identifiers.org/clinvar/164161 ^@ NM_001145809.1(MYH14):c.33G>A (p.Arg11=) http://identifiers.org/clinvar/164162 ^@ NM_001145809.1(MYH14):c.534C>T (p.Thr178=) http://identifiers.org/clinvar/179563 ^@ NM_001145809.1(MYH14):c.590+13G>A http://identifiers.org/clinvar/164166 ^@ NM_001145809.1(MYH14):c.693+12C>T http://identifiers.org/clinvar/178413 ^@ NM_001145809.1(MYH14):c.826A>G (p.Ile276Val) http://identifiers.org/clinvar/178414 ^@ NM_001145809.1(MYH14):c.1034C>G (p.Ser345Cys) http://identifiers.org/clinvar/164171 ^@ NM_024729.3(MYH14):c.1181A>G (p.Asn394Ser) http://identifiers.org/clinvar/179004 ^@ NM_001145809.1(MYH14):c.1301A>G (p.Tyr434Cys) http://identifiers.org/clinvar/179144 ^@ NM_001145809.1(MYH14):c.1533G>A (p.Gln511=) http://identifiers.org/clinvar/178954 ^@ NM_001145809.1(MYH14):c.1626G>A (p.Leu542=) http://identifiers.org/clinvar/178416 ^@ NM_001145809.1(MYH14):c.1918C>T (p.Arg640Trp) http://identifiers.org/clinvar/178417 ^@ NM_001145809.1(MYH14):c.2763A>G (p.Lys921=) http://identifiers.org/clinvar/164182 ^@ NM_001145809.1(MYH14):c.3467+1G>A http://identifiers.org/clinvar/164183 ^@ NM_001145809.1(MYH14):c.3514C>A (p.Arg1172=) http://identifiers.org/clinvar/164185 ^@ NM_024729.3(MYH14):c.3540C>T (p.Asn1180=) http://identifiers.org/clinvar/164187 ^@ NM_001145809.1(MYH14):c.4056G>A (p.Gly1352=) http://identifiers.org/clinvar/164188 ^@ NM_024729.3(MYH14):c.3971G>A (p.Ser1324Asn) http://identifiers.org/clinvar/164189 ^@ NM_001145809.1(MYH14):c.4255C>T (p.Arg1419Trp) http://identifiers.org/clinvar/164192 ^@ NM_001145809.1(MYH14):c.4264C>T (p.Arg1422Cys) http://identifiers.org/clinvar/179996 ^@ NM_001145809.1(MYH14):c.4393C>T (p.Arg1465Cys) http://identifiers.org/clinvar/164194 ^@ NM_001145809.1(MYH14):c.4441C>T (p.Arg1481Cys) http://identifiers.org/clinvar/164195 ^@ NM_024729.3(MYH14):c.4416+10C>T http://identifiers.org/clinvar/178618 ^@ NM_024729.3(MYH14):c.4473C>T (p.Ala1491=) http://identifiers.org/clinvar/164199 ^@ NM_001145809.1(MYH14):c.4705G>T (p.Ala1569Ser) http://identifiers.org/clinvar/164201 ^@ NM_001145809.1(MYH14):c.5076C>A (p.Ala1692=) http://identifiers.org/clinvar/164203 ^@ NM_001145809.1(MYH14):c.5127+10G>A http://identifiers.org/clinvar/178422 ^@ NM_001145809.1(MYH14):c.5227C>T (p.Leu1743=) http://identifiers.org/clinvar/164205 ^@ NM_024729.3(MYH14):c.5211T>C (p.Gly1737=) http://identifiers.org/clinvar/164206 ^@ NM_024729.3(MYH14):c.5343G>A (p.Leu1781=) http://identifiers.org/clinvar/164208 ^@ NM_001145809.1(MYH14):c.5991G>A (p.Thr1997=) http://identifiers.org/clinvar/177666 ^@ NM_000363.4(TNNI3):c.625G>A (p.Glu209Lys) http://identifiers.org/clinvar/177679 ^@ NM_000363.4(TNNI3):c.611G>A (p.Arg204His) http://identifiers.org/clinvar/177863 ^@ NM_000363.4(TNNI3):c.602T>C (p.Met201Thr) http://identifiers.org/clinvar/179492 ^@ NM_000363.4(TNNI3):c.586G>T (p.Asp196Tyr) http://identifiers.org/clinvar/179536 ^@ NM_000363.4(TNNI3):c.575G>C (p.Arg192Pro) http://identifiers.org/clinvar/165511 ^@ NM_000363.4(TNNI3):c.568G>T (p.Asp190Tyr) http://identifiers.org/clinvar/165513 ^@ NM_000363.4(TNNI3):c.526G>A (p.Val176Met) http://identifiers.org/clinvar/165516 ^@ NM_000363.4(TNNI3):c.509G>A (p.Arg170Gln) http://identifiers.org/clinvar/165517 ^@ NM_000363.4(TNNI3):c.508C>G (p.Arg170Gly) http://identifiers.org/clinvar/177866 ^@ NM_000363.4(TNNI3):c.488C>T (p.Ala163Val) http://identifiers.org/clinvar/165523 ^@ NM_000363.4(TNNI3):c.258C>T (p.Ala86=) http://identifiers.org/clinvar/179447 ^@ NM_000363.4(TNNI3):c.204delG (p.Arg69Alafs) http://identifiers.org/clinvar/165526 ^@ NM_000363.4(TNNI3):c.167T>C (p.Ile56Thr) http://identifiers.org/clinvar/179652 ^@ NM_000363.4(TNNI3):c.127G>T (p.Ala43Ser) http://identifiers.org/clinvar/163703 ^@ NM_000214.2(JAG1):c.3417T= (p.Tyr1139=) http://identifiers.org/clinvar/164492 ^@ NM_033118.3(MYLK2):c.16G>A (p.Gly6Arg) http://identifiers.org/clinvar/180071 ^@ NM_033118.3(MYLK2):c.254G>A (p.Gly85Glu) http://identifiers.org/clinvar/179165 ^@ NM_033118.3(MYLK2):c.344A>C (p.Gln115Pro) http://identifiers.org/clinvar/180080 ^@ NM_033118.3(MYLK2):c.417C>T (p.Ala139=) http://identifiers.org/clinvar/178088 ^@ NM_033118.3(MYLK2):c.508G>A (p.Glu170Lys) http://identifiers.org/clinvar/178986 ^@ NM_033118.3(MYLK2):c.557C>T (p.Thr186Met) http://identifiers.org/clinvar/164503 ^@ NM_033118.3(MYLK2):c.719T>C (p.Val240Ala) http://identifiers.org/clinvar/164504 ^@ NM_033118.3(MYLK2):c.791C>T (p.Pro264Leu) http://identifiers.org/clinvar/164506 ^@ NM_033118.3(MYLK2):c.1176C>T (p.Asp392=) http://identifiers.org/clinvar/164508 ^@ NM_033118.3(MYLK2):c.1284C>T (p.Gly428=) http://identifiers.org/clinvar/178091 ^@ NM_033118.3(MYLK2):c.1458T>C (p.Asp486=) http://identifiers.org/clinvar/164511 ^@ NM_033118.3(MYLK2):c.1694T>C (p.Met565Thr) http://identifiers.org/clinvar/179570 ^@ NM_000219.5(KCNE1):c.(?_1)_(390_?)dup http://identifiers.org/clinvar/178611 ^@ NM_000219.5(KCNE1):c.84G>A (p.Ser28=) http://identifiers.org/clinvar/163731 ^@ NM_000219.5(KCNE1):c.18C>G (p.Thr6=) http://identifiers.org/clinvar/162967 ^@ NM_001146077.1(CLDN14):c.369C>A (p.Thr123=) http://identifiers.org/clinvar/162969 ^@ NM_001146077.1(CLDN14):c.273G>A (p.Ser91=) http://identifiers.org/clinvar/178547 ^@ NM_024022.2(TMPRSS3):c.1335C>T (p.His445=) http://identifiers.org/clinvar/177740 ^@ NM_024022.2(TMPRSS3):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/178548 ^@ NM_024022.2(TMPRSS3):c.957G>C (p.Met319Ile) http://identifiers.org/clinvar/178683 ^@ NM_032405.1(TMPRSS3):c.789C>T (p.Tyr263=) http://identifiers.org/clinvar/177981 ^@ NM_024022.2(TMPRSS3):c.497G>T (p.Arg166Leu) http://identifiers.org/clinvar/178551 ^@ NM_024022.2(TMPRSS3):c.446+4A>T http://identifiers.org/clinvar/178997 ^@ NM_024022.2(TMPRSS3):c.234A>C (p.Arg78Ser) http://identifiers.org/clinvar/165057 ^@ NM_080860.3(RSPH1):c.563T>G (p.Leu188Ter) http://identifiers.org/clinvar/163671 ^@ NM_022081.5(HPS4):c.1816C>T (p.His606Tyr) http://identifiers.org/clinvar/163673 ^@ NM_022081.5(HPS4):c.1327C>G (p.Leu443Val) http://identifiers.org/clinvar/163675 ^@ NM_022081.5(HPS4):c.558G>A (p.Ser186=) http://identifiers.org/clinvar/164412 ^@ NM_002473.5(MYH9):c.5806C>T (p.Arg1936Trp) http://identifiers.org/clinvar/179209 ^@ NM_002473.5(MYH9):c.5718G>A (p.Thr1906=) http://identifiers.org/clinvar/179729 ^@ NM_002473.5(MYH9):c.5484-13G>C http://identifiers.org/clinvar/179171 ^@ NM_002473.5(MYH9):c.5235G>A (p.Thr1745=) http://identifiers.org/clinvar/178425 ^@ NM_002473.5(MYH9):c.5143G>A (p.Gly1715Ser) http://identifiers.org/clinvar/179392 ^@ NM_002473.5(MYH9):c.5107C>T (p.Arg1703Trp) http://identifiers.org/clinvar/164421 ^@ NM_002473.5(MYH9):c.5026A>G (p.Lys1676Glu) http://identifiers.org/clinvar/178428 ^@ NM_002473.5(MYH9):c.5010G>A (p.Glu1670=) http://identifiers.org/clinvar/178430 ^@ NM_002473.5(MYH9):c.4932+13G>A http://identifiers.org/clinvar/178431 ^@ NM_002473.5(MYH9):c.4878C>T (p.Ile1626=) http://identifiers.org/clinvar/164426 ^@ NM_002473.5(MYH9):c.4727G>A (p.Arg1576Gln) http://identifiers.org/clinvar/179557 ^@ NM_002473.5(MYH9):c.4558-13C>T http://identifiers.org/clinvar/164432 ^@ NM_002473.5(MYH9):c.4546G>T (p.Val1516Leu) http://identifiers.org/clinvar/164434 ^@ NM_002473.5(MYH9):c.4448G>A (p.Arg1483Gln) http://identifiers.org/clinvar/164436 ^@ NM_002473.5(MYH9):c.4308G>A (p.Ala1436=) http://identifiers.org/clinvar/164438 ^@ NM_002473.5(MYH9):c.4297C>T (p.Arg1433Cys) http://identifiers.org/clinvar/179380 ^@ NM_002473.5(MYH9):c.4179C>G (p.Asp1393Glu) http://identifiers.org/clinvar/164441 ^@ NM_002473.5(MYH9):c.3485+8C>T http://identifiers.org/clinvar/164442 ^@ NM_002473.5(MYH9):c.3340T>C (p.Ser1114Pro) http://identifiers.org/clinvar/178434 ^@ NM_002473.5(MYH9):c.3216G>A (p.Ala1072=) http://identifiers.org/clinvar/179251 ^@ NM_002473.5(MYH9):c.2789G>A (p.Arg930His) http://identifiers.org/clinvar/164445 ^@ NM_002473.5(MYH9):c.2721C>T (p.Thr907=) http://identifiers.org/clinvar/164450 ^@ NM_002473.5(MYH9):c.2635A>C (p.Met879Leu) http://identifiers.org/clinvar/164451 ^@ NM_002473.5(MYH9):c.2500-14A>G http://identifiers.org/clinvar/164453 ^@ NM_002473.5(MYH9):c.2316G>A (p.Glu772=) http://identifiers.org/clinvar/179211 ^@ NM_002473.5(MYH9):c.2037+14G>T http://identifiers.org/clinvar/164455 ^@ NM_002473.5(MYH9):c.1843+14C>A http://identifiers.org/clinvar/164456 ^@ NM_002473.5(MYH9):c.1626C>T (p.Phe542=) http://identifiers.org/clinvar/164458 ^@ NM_002473.5(MYH9):c.1491C>T (p.Ile497=) http://identifiers.org/clinvar/164459 ^@ NM_002473.5(MYH9):c.1212G>A (p.Ala404=) http://identifiers.org/clinvar/179427 ^@ NM_002473.5(MYH9):c.1056C>T (p.Ile352=) http://identifiers.org/clinvar/179433 ^@ NM_002473.5(MYH9):c.833A>G (p.Tyr278Cys) http://identifiers.org/clinvar/164462 ^@ NM_002473.5(MYH9):c.705+11C>T http://identifiers.org/clinvar/164464 ^@ NM_002473.5(MYH9):c.591G>A (p.Ser197=) http://identifiers.org/clinvar/164465 ^@ NM_002473.5(MYH9):c.468C>T (p.Thr156=) http://identifiers.org/clinvar/164468 ^@ NM_002473.5(MYH9):c.333+13C>T http://identifiers.org/clinvar/178439 ^@ NM_002473.5(MYH9):c.7C>G (p.Gln3Glu) http://identifiers.org/clinvar/165582 ^@ NM_001039141.2(TRIOBP):c.265C>G (p.Pro89Ala) http://identifiers.org/clinvar/178553 ^@ NM_001039141.2(TRIOBP):c.483G>A (p.Glu161=) http://identifiers.org/clinvar/165586 ^@ NM_001039141.2(TRIOBP):c.4009C>G (p.Gln1337Glu) http://identifiers.org/clinvar/179961 ^@ NM_001039141.2(TRIOBP):c.4101G>A (p.Arg1367=) http://identifiers.org/clinvar/178555 ^@ NM_001039141.2(TRIOBP):c.4139A>G (p.Glu1380Gly) http://identifiers.org/clinvar/180031 ^@ NM_001039141.2(TRIOBP):c.4271T>C (p.Leu1424Pro) http://identifiers.org/clinvar/179313 ^@ NM_001039141.2(TRIOBP):c.4621G>A (p.Ala1541Thr) http://identifiers.org/clinvar/179724 ^@ NM_001039141.2(TRIOBP):c.4645C>T (p.Arg1549Cys) http://identifiers.org/clinvar/165596 ^@ NM_001039141.2(TRIOBP):c.4935A>G (p.Ala1645=) http://identifiers.org/clinvar/165598 ^@ NM_001039141.2(TRIOBP):c.5166C>G (p.Asp1722Glu) http://identifiers.org/clinvar/178557 ^@ NM_001039141.2(TRIOBP):c.5358G>T (p.Ser1786=) http://identifiers.org/clinvar/177980 ^@ NM_001039141.2(TRIOBP):c.5588C>T (p.Ala1863Val) http://identifiers.org/clinvar/178559 ^@ NM_001039141.2(TRIOBP):c.5767G>A (p.Ala1923Thr) http://identifiers.org/clinvar/165603 ^@ NM_001039141.2(TRIOBP):c.5936T>C (p.Leu1979Pro) http://identifiers.org/clinvar/165605 ^@ NM_001039141.2(TRIOBP):c.6324+9G>A http://identifiers.org/clinvar/179866 ^@ NM_138632.2(TRIOBP):c.1224G>A (p.Arg408=) http://identifiers.org/clinvar/165608 ^@ NM_001039141.2(TRIOBP):c.6325-10C>T http://identifiers.org/clinvar/165610 ^@ NM_001039141.2(TRIOBP):c.6455C>T (p.Thr2152Met) http://identifiers.org/clinvar/165613 ^@ NM_001039141.2(TRIOBP):c.6598C>T (p.Arg2200Ter) http://identifiers.org/clinvar/165612 ^@ NM_001039141.2(TRIOBP):c.6741G>A (p.Leu2247=) http://identifiers.org/clinvar/165615 ^@ NM_001039141.2(TRIOBP):c.6936+13G>T http://identifiers.org/clinvar/179279 ^@ NM_001039141.2(TRIOBP):c.7017C>T (p.Ile2339=) http://identifiers.org/clinvar/177904 ^@ NC_000023.10:g.(?_153640181)_(153641904_?)del http://identifiers.org/clinvar/180051 ^@ NM_001399.4(EDA):c.(?_397)-340_(496_?)dup http://identifiers.org/clinvar/179325 ^@ NM_001399.4(EDA):c.(?_397)_(502_?)del (p.(?)) http://identifiers.org/clinvar/228340 ^@ NM_001399.4(EDA):c.(?_707)_(741_?)del (p.(?)) http://identifiers.org/clinvar/164996 ^@ NM_002764.3(PRPS1):c.456A>G (p.Leu152=) http://identifiers.org/clinvar/179568 ^@ NM_002294.2(LAMP2):c.1211A>T (p.His404Leu) http://identifiers.org/clinvar/163806 ^@ NM_002294.2(LAMP2):c.1117G>A (p.Asp373Asn) http://identifiers.org/clinvar/179254 ^@ NM_002294.2(LAMP2):c.1093+1G>A http://identifiers.org/clinvar/178945 ^@ NM_002294.2(LAMP2):c.999delA (p.Glu334Serfs) http://identifiers.org/clinvar/163812 ^@ NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) http://identifiers.org/clinvar/179126 ^@ NM_002294.2(LAMP2):c.851_852delTT (p.Phe284Cysfs) http://identifiers.org/clinvar/163816 ^@ NM_002294.2(LAMP2):c.183+1G>A http://identifiers.org/clinvar/163818 ^@ NM_002294.2(LAMP2):c.65-13T>A http://identifiers.org/clinvar/163820 ^@ NM_013995.2(LAMP2):c.32G>T (p.Gly11Val) http://identifiers.org/clinvar/179832 ^@ NM_001399.4(EDA):c.201G>T (p.Glu67Asp) http://identifiers.org/clinvar/179360 ^@ NM_001399.4(EDA):c.396+2T>G http://identifiers.org/clinvar/179641 ^@ NM_001399.4(EDA):c.502+1G>A http://identifiers.org/clinvar/179437 ^@ NM_001399.4(EDA):c.742-18T>G http://identifiers.org/clinvar/177947 ^@ NM_001399.4(EDA):c.766C>T (p.Gln256Ter) http://identifiers.org/clinvar/163320 ^@ NM_001399.4(EDA):c.809delT (p.Val270Glyfs) http://identifiers.org/clinvar/163322 ^@ NM_001399.4(EDA):c.917A>T (p.Gln306Leu) http://identifiers.org/clinvar/163324 ^@ NM_001399.4(EDA):c.991C>T (p.Gln331Ter) http://identifiers.org/clinvar/164973 ^@ NM_000307.4(POU3F4):c.483C>A (p.Ser161Arg) http://identifiers.org/clinvar/179963 ^@ NM_000307.4(POU3F4):c.968G>A (p.Arg323His) http://identifiers.org/clinvar/178871 ^@ NC_012920.1:m.1008A>G http://identifiers.org/clinvar/163983 ^@ NC_012920.1:m.1040T>C http://identifiers.org/clinvar/179340 ^@ NC_012920.1:m.1375C>T http://identifiers.org/clinvar/163987 ^@ NC_012920.1:m.1503G>A http://identifiers.org/clinvar/163989 ^@ NC_012920.1:m.990T>C http://identifiers.org/clinvar/163395 ^@ NM_000501.3(ELN):c.1744delG (p.Ala582Glnfs) http://identifiers.org/clinvar/165519 ^@ NM_000363.4(TNNI3):c.372+7C>T http://identifiers.org/clinvar/165521 ^@ NM_000363.4(TNNI3):c.304G>A (p.Ala102Thr) http://identifiers.org/clinvar/165522 ^@ NM_000363.4(TNNI3):c.258delC (p.Leu88Trpfs) http://identifiers.org/clinvar/165525 ^@ NM_000363.4(TNNI3):c.168T>G (p.Ile56Met) http://identifiers.org/clinvar/179548 ^@ NM_000363.4(TNNI3):c.132G>C (p.Ser44=) http://identifiers.org/clinvar/165529 ^@ NM_000363.4(TNNI3):c.85T>G (p.Tyr29Asp) http://identifiers.org/clinvar/164493 ^@ NM_033118.3(MYLK2):c.105C>T (p.Asp35=) http://identifiers.org/clinvar/164494 ^@ NM_033118.3(MYLK2):c.340G>A (p.Glu114Lys) http://identifiers.org/clinvar/164496 ^@ NM_033118.3(MYLK2):c.353C>T (p.Ser118Leu) http://identifiers.org/clinvar/164499 ^@ NM_033118.3(MYLK2):c.463A>T (p.Ile155Phe) http://identifiers.org/clinvar/164501 ^@ NM_033118.3(MYLK2):c.524C>A (p.Thr175Asn) http://identifiers.org/clinvar/164498 ^@ NM_033118.3(MYLK2):c.558G>A (p.Thr186=) http://identifiers.org/clinvar/178089 ^@ NM_033118.3(MYLK2):c.786A>G (p.Pro262=) http://identifiers.org/clinvar/180083 ^@ NM_033118.3(MYLK2):c.1112T>C (p.Ile371Thr) http://identifiers.org/clinvar/164507 ^@ NM_033118.3(MYLK2):c.1224+8A>C http://identifiers.org/clinvar/178090 ^@ NM_033118.3(MYLK2):c.1295+4C>A http://identifiers.org/clinvar/179099 ^@ NM_033118.3(MYLK2):c.1659C>G (p.Arg553=) http://identifiers.org/clinvar/177964 ^@ NM_033118.3(MYLK2):c.1711-6C>T http://identifiers.org/clinvar/163728 ^@ NM_000219.5(KCNE1):c.174C>G (p.Thr58=) http://identifiers.org/clinvar/163730 ^@ NM_000219.5(KCNE1):c.30G>A (p.Thr10=) http://identifiers.org/clinvar/162966 ^@ NM_001146077.1(CLDN14):c.471G>A (p.Lys157=) http://identifiers.org/clinvar/178603 ^@ NM_001146077.1(CLDN14):c.300C>T (p.Ile100=) http://identifiers.org/clinvar/179611 ^@ NM_001146077.1(CLDN14):c.83C>T (p.Pro28Leu) http://identifiers.org/clinvar/180040 ^@ NM_024022.2(TMPRSS3):c.1194+11G>A http://identifiers.org/clinvar/165482 ^@ NM_024022.2(TMPRSS3):c.1152G>T (p.Met384Ile) http://identifiers.org/clinvar/178987 ^@ NM_032405.1(TMPRSS3):c.948C>G (p.Phe316Leu) http://identifiers.org/clinvar/178549 ^@ NM_024022.2(TMPRSS3):c.727G>A (p.Gly243Arg) http://identifiers.org/clinvar/178550 ^@ NM_024022.2(TMPRSS3):c.446+9A>G http://identifiers.org/clinvar/179855 ^@ NM_024022.2(TMPRSS3):c.239G>A (p.Arg80His) http://identifiers.org/clinvar/165492 ^@ NM_024022.2(TMPRSS3):c.208delC (p.His70Thrfs) http://identifiers.org/clinvar/163670 ^@ NM_022081.5(HPS4):c.1875G>T (p.Gln625His) http://identifiers.org/clinvar/163672 ^@ NM_022081.5(HPS4):c.1654G>A (p.Val552Met) http://identifiers.org/clinvar/163674 ^@ NM_022081.5(HPS4):c.686A>G (p.Glu229Gly) http://identifiers.org/clinvar/178424 ^@ NM_002473.5(MYH9):c.5815G>A (p.Ala1939Thr) http://identifiers.org/clinvar/164413 ^@ NM_002473.5(MYH9):c.5766-10C>T http://identifiers.org/clinvar/164415 ^@ NM_002473.5(MYH9):c.5593-14G>T http://identifiers.org/clinvar/179621 ^@ NM_002473.5(MYH9):c.5275-10delT http://identifiers.org/clinvar/164417 ^@ NM_002473.5(MYH9):c.5188C>T (p.Arg1730Cys) http://identifiers.org/clinvar/178426 ^@ NM_002473.5(MYH9):c.5142C>T (p.Ser1714=) http://identifiers.org/clinvar/178427 ^@ NM_002473.5(MYH9):c.5049C>A (p.Ile1683=) http://identifiers.org/clinvar/179163 ^@ NM_002473.5(MYH9):c.5013C>T (p.Asn1671=) http://identifiers.org/clinvar/178429 ^@ NM_002473.5(MYH9):c.4956C>T (p.Arg1652=) http://identifiers.org/clinvar/179150 ^@ NM_002473.5(MYH9):c.4927C>A (p.Leu1643Met) http://identifiers.org/clinvar/178432 ^@ NM_002473.5(MYH9):c.4831G>A (p.Ala1611Thr) http://identifiers.org/clinvar/164430 ^@ NM_002473.5(MYH9):c.4638C>T (p.Asp1546=) http://identifiers.org/clinvar/164431 ^@ NM_002473.5(MYH9):c.4556G>A (p.Ser1519Asn) http://identifiers.org/clinvar/164433 ^@ NM_002473.5(MYH9):c.4479G>A (p.Ala1493=) http://identifiers.org/clinvar/164435 ^@ NM_002473.5(MYH9):c.4396C>T (p.Arg1466Trp) http://identifiers.org/clinvar/164437 ^@ NM_002473.5(MYH9):c.4306G>A (p.Ala1436Thr) http://identifiers.org/clinvar/164439 ^@ NM_002473.5(MYH9):c.4225G>A (p.Asp1409Asn) http://identifiers.org/clinvar/178433 ^@ NM_002473.5(MYH9):c.3943-7C>A http://identifiers.org/clinvar/179084 ^@ NM_002473.5(MYH9):c.3384T>C (p.Asn1128=) http://identifiers.org/clinvar/164443 ^@ NM_002473.5(MYH9):c.3291C>A (p.Ala1097=) http://identifiers.org/clinvar/164446 ^@ NM_002473.5(MYH9):c.2872G>A (p.Ala958Thr) http://identifiers.org/clinvar/164447 ^@ NM_002473.5(MYH9):c.2766C>G (p.Ala922=) http://identifiers.org/clinvar/164448 ^@ NM_002473.5(MYH9):c.2714G>A (p.Arg905His) http://identifiers.org/clinvar/164449 ^@ NM_002473.5(MYH9):c.2517G>A (p.Gln839=) http://identifiers.org/clinvar/164452 ^@ NM_002473.5(MYH9):c.2448C>T (p.Cys816=) http://identifiers.org/clinvar/164454 ^@ NM_002473.5(MYH9):c.2229+13G>T http://identifiers.org/clinvar/179191 ^@ NM_002473.5(MYH9):c.1980G>A (p.Thr660=) http://identifiers.org/clinvar/180032 ^@ NM_002473.5(MYH9):c.1843+12G>C http://identifiers.org/clinvar/178435 ^@ NM_002473.5(MYH9):c.1555-12C>T http://identifiers.org/clinvar/178436 ^@ NM_002473.5(MYH9):c.1242C>T (p.Ile414=) http://identifiers.org/clinvar/164460 ^@ NM_002473.5(MYH9):c.1158C>T (p.Thr386=) http://identifiers.org/clinvar/164461 ^@ NM_002473.5(MYH9):c.859C>T (p.His287Tyr) http://identifiers.org/clinvar/178437 ^@ NM_002473.5(MYH9):c.769+15C>T http://identifiers.org/clinvar/164463 ^@ NM_002473.5(MYH9):c.637C>T (p.Gln213Ter) http://identifiers.org/clinvar/164466 ^@ NM_002473.5(MYH9):c.491-7G>A http://identifiers.org/clinvar/164467 ^@ NM_002473.5(MYH9):c.437T>A (p.Met146Lys) http://identifiers.org/clinvar/178438 ^@ NM_002473.5(MYH9):c.136C>T (p.Leu46Phe) http://identifiers.org/clinvar/165581 ^@ NM_001039141.2(TRIOBP):c.202A>T (p.Thr68Ser) http://identifiers.org/clinvar/165583 ^@ NM_001039141.2(TRIOBP):c.477G>T (p.Arg159Ser) http://identifiers.org/clinvar/178554 ^@ NM_001039141.2(TRIOBP):c.584C>T (p.Thr195Ile) http://identifiers.org/clinvar/165587 ^@ NM_001039141.2(TRIOBP):c.4031G>A (p.Arg1344Gln) http://identifiers.org/clinvar/179776 ^@ NM_001039141.2(TRIOBP):c.4135C>T (p.Pro1379Ser) http://identifiers.org/clinvar/179872 ^@ NM_001039141.2(TRIOBP):c.4244G>A (p.Ser1415Asn) http://identifiers.org/clinvar/165593 ^@ NM_001039141.2(TRIOBP):c.4329A>G (p.Leu1443=) http://identifiers.org/clinvar/165595 ^@ NM_001039141.2(TRIOBP):c.4643C>T (p.Pro1548Leu) http://identifiers.org/clinvar/178556 ^@ NM_001039141.2(TRIOBP):c.4666G>A (p.Glu1556Lys) http://identifiers.org/clinvar/165597 ^@ NM_001039141.2(TRIOBP):c.5117A>G (p.Glu1706Gly) http://identifiers.org/clinvar/165599 ^@ NM_001039141.2(TRIOBP):c.5349A>T (p.Gly1783=) http://identifiers.org/clinvar/178558 ^@ NM_001039141.2(TRIOBP):c.5544C>T (p.Tyr1848=) http://identifiers.org/clinvar/165602 ^@ NM_001039141.2(TRIOBP):c.5693C>T (p.Ser1898Leu) http://identifiers.org/clinvar/165601 ^@ NM_001039141.2(TRIOBP):c.5886A>G (p.Pro1962=) http://identifiers.org/clinvar/165604 ^@ NM_001039141.2(TRIOBP):c.6184A>G (p.Ser2062Gly) http://identifiers.org/clinvar/165606 ^@ NM_138632.2(TRIOBP):c.1195G>A (p.Val399Met) http://identifiers.org/clinvar/165607 ^@ NM_138632.2(TRIOBP):c.1227A>G (p.Pro409=) http://identifiers.org/clinvar/165609 ^@ NM_001039141.2(TRIOBP):c.6362C>T (p.Ser2121Leu) http://identifiers.org/clinvar/165611 ^@ NM_001039141.2(TRIOBP):c.6472+10C>T http://identifiers.org/clinvar/165614 ^@ NM_001039141.2(TRIOBP):c.6736G>A (p.Glu2246Lys) http://identifiers.org/clinvar/178939 ^@ NM_001039141.2(TRIOBP):c.6803G>A (p.Gly2268Asp) http://identifiers.org/clinvar/165616 ^@ NM_001039141.2(TRIOBP):c.6961T>C (p.Tyr2321His) http://identifiers.org/clinvar/165617 ^@ NM_001039141.2(TRIOBP):c.*2+10G>A http://identifiers.org/clinvar/180114 ^@ NM_001399.4(EDA):c.(?_-115)_(174_?)del http://identifiers.org/clinvar/163306 ^@ NM_001399.4(EDA):c.(?_397-304)_(460_?)del http://identifiers.org/clinvar/163308 ^@ NM_001399.4(EDA):c.(?_503)-88_(1176_?)del http://identifiers.org/clinvar/179326 ^@ NM_001399.4(EDA):c.(?_925)_(1176_?)del (p.(?)) http://identifiers.org/clinvar/179016 ^@ NM_002294.2(LAMP2):c.*15T>C http://identifiers.org/clinvar/179100 ^@ NM_002294.2(LAMP2):c.1193T>C (p.Ile398Thr) http://identifiers.org/clinvar/179017 ^@ NM_013995.2(LAMP2):c.*13C>T http://identifiers.org/clinvar/178999 ^@ NM_002294.2(LAMP2):c.1020delT (p.Gly341Glufs) http://identifiers.org/clinvar/177657 ^@ NM_002294.2(LAMP2):c.929-1G>A http://identifiers.org/clinvar/163813 ^@ NM_002294.2(LAMP2):c.864+1G>T http://identifiers.org/clinvar/179562 ^@ NM_002294.2(LAMP2):c.277G>A (p.Gly93Arg) http://identifiers.org/clinvar/179062 ^@ NM_002294.2(LAMP2):c.121delT (p.Cys41Alafs) http://identifiers.org/clinvar/163819 ^@ NM_002294.2(LAMP2):c.42C>T (p.Leu14=) http://identifiers.org/clinvar/179733 ^@ NM_001399.4(EDA):c.132_135dupGGGT (p.Phe46Glyfs) http://identifiers.org/clinvar/178916 ^@ NM_001399.4(EDA):c.396+1G>A http://identifiers.org/clinvar/179127 ^@ NM_001399.4(EDA):c.474A>C (p.Lys158Asn) http://identifiers.org/clinvar/163315 ^@ NM_001399.4(EDA):c.676C>T (p.Gln226Ter) http://identifiers.org/clinvar/179283 ^@ NM_001399.4(EDA):c.742-14T>G http://identifiers.org/clinvar/179264 ^@ NM_001399.4(EDA):c.794A>G (p.Asp265Gly) http://identifiers.org/clinvar/163321 ^@ NM_001399.4(EDA):c.822G>A (p.Trp274Ter) http://identifiers.org/clinvar/163323 ^@ NM_001399.4(EDA):c.948delC (p.Phe317Leufs) http://identifiers.org/clinvar/178629 ^@ NM_000307.4(POU3F4):c.139C>T (p.Pro47Ser) http://identifiers.org/clinvar/164974 ^@ NM_000307.4(POU3F4):c.967C>T (p.Arg323Cys) http://identifiers.org/clinvar/164976 ^@ NM_000307.4(POU3F4):c.1086_*3delACTG http://identifiers.org/clinvar/178943 ^@ NC_012920.1:m.1027A>G http://identifiers.org/clinvar/179852 ^@ NC_012920.1:m.1120C>T http://identifiers.org/clinvar/177708 ^@ NC_012920.1:m.1438A= http://identifiers.org/clinvar/163988 ^@ NC_012920.1:m.1508C>T http://identifiers.org/clinvar/163394 ^@ NM_000501.3(ELN):c.1733delC (p.Pro578Leufs) http://identifiers.org/clinvar/179701 ^@ NM_016239.3(MYO15A):c.5380C>T (p.Arg1794Cys) http://identifiers.org/clinvar/164529 ^@ NM_016239.3(MYO15A):c.5532-10C>T http://identifiers.org/clinvar/179619 ^@ NM_016239.3(MYO15A):c.5851delA (p.Ser1951Valfs) http://identifiers.org/clinvar/164533 ^@ NM_016239.3(MYO15A):c.5886C>T (p.Tyr1962=) http://identifiers.org/clinvar/179681 ^@ NM_016239.3(MYO15A):c.5934G>A (p.Gln1978=) http://identifiers.org/clinvar/179269 ^@ NM_016239.3(MYO15A):c.5964+3G>C http://identifiers.org/clinvar/164538 ^@ NM_016239.3(MYO15A):c.6112C>T (p.Arg2038Cys) http://identifiers.org/clinvar/178446 ^@ NM_016239.3(MYO15A):c.6192G>A (p.Gly2064=) http://identifiers.org/clinvar/178447 ^@ NM_016239.3(MYO15A):c.6336C>T (p.Tyr2112=) http://identifiers.org/clinvar/164540 ^@ NM_016239.3(MYO15A):c.6610C>T (p.Arg2204Cys) http://identifiers.org/clinvar/179320 ^@ NM_016239.3(MYO15A):c.6669G>A (p.Ala2223=) http://identifiers.org/clinvar/178619 ^@ NM_016239.3(MYO15A):c.6796G>A (p.Val2266Met) http://identifiers.org/clinvar/164545 ^@ NM_016239.3(MYO15A):c.6932C>A (p.Ala2311Glu) http://identifiers.org/clinvar/164547 ^@ NM_016239.3(MYO15A):c.7118-12C>T http://identifiers.org/clinvar/164549 ^@ NM_016239.3(MYO15A):c.7367C>G (p.Ala2456Gly) http://identifiers.org/clinvar/164551 ^@ NM_016239.3(MYO15A):c.7758G>A (p.Pro2586=) http://identifiers.org/clinvar/164552 ^@ NM_016239.3(MYO15A):c.7893+1G>A http://identifiers.org/clinvar/164554 ^@ NM_016239.3(MYO15A):c.8170G>A (p.Glu2724Lys) http://identifiers.org/clinvar/164556 ^@ NM_016239.3(MYO15A):c.8404A>G (p.Met2802Val) http://identifiers.org/clinvar/178449 ^@ NM_016239.3(MYO15A):c.8714-1G>A http://identifiers.org/clinvar/179080 ^@ NM_016239.3(MYO15A):c.8907C>T (p.Ala2969=) http://identifiers.org/clinvar/164561 ^@ NM_016239.3(MYO15A):c.9436C>T (p.His3146Tyr) http://identifiers.org/clinvar/164563 ^@ NM_016239.3(MYO15A):c.9517+12A>G http://identifiers.org/clinvar/164565 ^@ NM_016239.3(MYO15A):c.9708G>A (p.Val3236=) http://identifiers.org/clinvar/164567 ^@ NM_016239.3(MYO15A):c.9812G>A (p.Arg3271His) http://identifiers.org/clinvar/178450 ^@ NM_016239.3(MYO15A):c.9948+11G>A http://identifiers.org/clinvar/164570 ^@ NM_016239.3(MYO15A):c.9998G>A (p.Arg3333Gln) http://identifiers.org/clinvar/179222 ^@ NM_016239.3(MYO15A):c.10136C>A (p.Ser3379Ter) http://identifiers.org/clinvar/164574 ^@ NM_016239.3(MYO15A):c.10217-3C>T http://identifiers.org/clinvar/177939 ^@ NM_003673.3(TCAP):c.32C>T (p.Ser11Leu) http://identifiers.org/clinvar/165335 ^@ NM_003673.3(TCAP):c.301G>A (p.Ala101Thr) http://identifiers.org/clinvar/179714 ^@ NM_003673.3(TCAP):c.388C>A (p.Arg130Ser) http://identifiers.org/clinvar/179590 ^@ NM_001005862.2(ERBB2):c.2234_2235insCTCCGTGATGGC (p.Ala745_Gly746insSerValMetAla) http://identifiers.org/clinvar/163410 ^@ NM_001005862.2(ERBB2):c.2237G>T (p.Gly746Val) http://identifiers.org/clinvar/164995 ^@ NM_002734.4(PRKAR1A):c.623delG (p.Gly208Glufs) http://identifiers.org/clinvar/178764 ^@ NM_023036.4(DNAI2):c.865-5A>G http://identifiers.org/clinvar/163169 ^@ NM_023036.4(DNAI2):c.1347+7C>T http://identifiers.org/clinvar/163171 ^@ NM_023036.4(DNAI2):c.1672G>A (p.Ala558Thr) http://identifiers.org/clinvar/178569 ^@ NM_173477.4(USH1G):c.1012G>A (p.Gly338Arg) http://identifiers.org/clinvar/179451 ^@ NM_173477.4(USH1G):c.717G>C (p.Lys239Asn) http://identifiers.org/clinvar/166401 ^@ NM_173477.4(USH1G):c.594C>T (p.His198=) http://identifiers.org/clinvar/178969 ^@ NM_173477.4(USH1G):c.-1C>T http://identifiers.org/clinvar/177791 ^@ NM_000546.5(TP53):c.722C>G (p.Ser241Cys) http://identifiers.org/clinvar/165560 ^@ NM_000546.5(TP53):c.215C= (p.Pro72=) http://identifiers.org/clinvar/178707 ^@ NM_017950.3(CCDC40):c.676+13T>C http://identifiers.org/clinvar/178708 ^@ NM_017950.3(CCDC40):c.873C>T (p.Phe291=) http://identifiers.org/clinvar/162847 ^@ NM_017950.3(CCDC40):c.1159+12C>T http://identifiers.org/clinvar/178709 ^@ NM_017950.3(CCDC40):c.1531G>A (p.Glu511Lys) http://identifiers.org/clinvar/162850 ^@ NM_017950.3(CCDC40):c.1890T>G (p.Ala630=) http://identifiers.org/clinvar/162851 ^@ NM_017950.3(CCDC40):c.2323G>A (p.Val775Met) http://identifiers.org/clinvar/162852 ^@ NM_017950.3(CCDC40):c.3210A>G (p.Thr1070=) http://identifiers.org/clinvar/162853 ^@ NM_017950.3(CCDC40):c.*15T>C http://identifiers.org/clinvar/179373 ^@ NM_024422.4(DSC2):c.2623C>T (p.Arg875Ter) http://identifiers.org/clinvar/163181 ^@ NM_024422.4(DSC2):c.2263G>A (p.Gly755Ser) http://identifiers.org/clinvar/178017 ^@ NM_024422.4(DSC2):c.2139G>A (p.Thr713=) http://identifiers.org/clinvar/163184 ^@ NM_024422.4(DSC2):c.1775C>T (p.Ala592Val) http://identifiers.org/clinvar/163186 ^@ NM_004949.4(DSC2):c.1680G>A (p.Thr560=) http://identifiers.org/clinvar/163188 ^@ NM_004949.4(DSC2):c.1537G>T (p.Asp513Tyr) http://identifiers.org/clinvar/178019 ^@ NM_024422.4(DSC2):c.802A>G (p.Thr268Ala) http://identifiers.org/clinvar/178972 ^@ NM_024422.4(DSC2):c.394C>T (p.Arg132Cys) http://identifiers.org/clinvar/163193 ^@ NM_024422.4(DSC2):c.172T>G (p.Phe58Val) http://identifiers.org/clinvar/179800 ^@ NM_004949.4(DSC2):c.-222C>A http://identifiers.org/clinvar/163197 ^@ NM_004949.4(DSC2):c.-298C>T http://identifiers.org/clinvar/163198 ^@ NM_001943.4(DSG2):c.-15G>A http://identifiers.org/clinvar/179897 ^@ NM_001943.4(DSG2):c.98A>C (p.Asn33Thr) http://identifiers.org/clinvar/163203 ^@ NM_001943.4(DSG2):c.706A>G (p.Thr236Ala) http://identifiers.org/clinvar/163204 ^@ NM_001943.4(DSG2):c.806T>C (p.Ile269Thr) http://identifiers.org/clinvar/179902 ^@ NM_001943.4(DSG2):c.1105A>G (p.Lys369Glu) http://identifiers.org/clinvar/163207 ^@ NM_001943.4(DSG2):c.1284T>C (p.Tyr428=) http://identifiers.org/clinvar/179703 ^@ NM_001943.4(DSG2):c.1317T>C (p.Ser439=) http://identifiers.org/clinvar/163212 ^@ NM_001943.4(DSG2):c.1478A>G (p.Asn493Ser) http://identifiers.org/clinvar/163210 ^@ NM_001943.4(DSG2):c.1550C>T (p.Ala517Val) http://identifiers.org/clinvar/178021 ^@ NM_001943.4(DSG2):c.2033G>C (p.Gly678Ala) http://identifiers.org/clinvar/179312 ^@ NM_001943.4(DSG2):c.2234C>T (p.Thr745Met) http://identifiers.org/clinvar/163217 ^@ NM_001943.4(DSG2):c.2305G>A (p.Glu769Lys) http://identifiers.org/clinvar/178020 ^@ NM_001943.4(DSG2):c.2484T>C (p.Asp828=) http://identifiers.org/clinvar/180046 ^@ NM_001943.4(DSG2):c.2758G>A (p.Val920Ile) http://identifiers.org/clinvar/163223 ^@ NM_001943.4(DSG2):c.2960T>C (p.Val987Ala) http://identifiers.org/clinvar/163224 ^@ NM_001943.4(DSG2):c.3129T>G (p.Asn1043Lys) http://identifiers.org/clinvar/179064 ^@ NM_001943.4(DSG2):c.3198A>G (p.Glu1066=) http://identifiers.org/clinvar/179849 ^@ NM_001943.4(DSG2):c.3281_3283delGTCinsTTA (p.Gly1094_His1095delinsValAsn) http://identifiers.org/clinvar/178279 ^@ NM_000371.3(TTR):c.140A>G (p.Asn47Ser) http://identifiers.org/clinvar/178662 ^@ NM_000371.3(TTR):c.337-14_337-11delGTCT http://identifiers.org/clinvar/179761 ^@ NM_032975.3(DTNA):c.189G>A (p.Arg63=) http://identifiers.org/clinvar/179728 ^@ NM_032975.3(DTNA):c.953C>A (p.Pro318His) http://identifiers.org/clinvar/179015 ^@ NM_032975.3(DTNA):c.1514G>A (p.Arg505His) http://identifiers.org/clinvar/179263 ^@ NM_032975.3(DTNA):c.1719T>G (p.Ser573=) http://identifiers.org/clinvar/178982 ^@ NM_001145472.2(LOXHD1):c.3328G>T (p.Ala1110Ser) http://identifiers.org/clinvar/178390 ^@ NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) http://identifiers.org/clinvar/163885 ^@ NM_144612.6(LOXHD1):c.6276C>G (p.Val2092=) http://identifiers.org/clinvar/163887 ^@ NM_144612.6(LOXHD1):c.5962A>G (p.Met1988Val) http://identifiers.org/clinvar/179310 ^@ NM_144612.6(LOXHD1):c.5869G>A (p.Glu1957Lys) http://identifiers.org/clinvar/178926 ^@ NM_144612.6(LOXHD1):c.5725G>T (p.Asp1909Tyr) http://identifiers.org/clinvar/179610 ^@ NM_144612.6(LOXHD1):c.5554G>A (p.Gly1852Arg) http://identifiers.org/clinvar/163895 ^@ NM_144612.6(LOXHD1):c.5503C>T (p.Leu1835=) http://identifiers.org/clinvar/163897 ^@ NM_144612.6(LOXHD1):c.5214-3C>T http://identifiers.org/clinvar/163899 ^@ NM_144612.6(LOXHD1):c.5087T>A (p.Val1696Asp) http://identifiers.org/clinvar/179408 ^@ NM_001145472.2(LOXHD1):c.1762G>A (p.Asp588Asn) http://identifiers.org/clinvar/179342 ^@ NM_144612.6(LOXHD1):c.4957G>A (p.Gly1653Arg) http://identifiers.org/clinvar/178612 ^@ NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) http://identifiers.org/clinvar/178396 ^@ NM_144612.6(LOXHD1):c.4480C>T (p.Arg1494Ter) http://identifiers.org/clinvar/163907 ^@ NM_144612.6(LOXHD1):c.4281T>G (p.Ile1427Met) http://identifiers.org/clinvar/179781 ^@ NM_144612.6(LOXHD1):c.4190G>A (p.Arg1397His) http://identifiers.org/clinvar/163910 ^@ NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter) http://identifiers.org/clinvar/178398 ^@ NM_144612.6(LOXHD1):c.4031G>T (p.Cys1344Phe) http://identifiers.org/clinvar/179341 ^@ NM_144612.6(LOXHD1):c.3626C>T (p.Thr1209Ile) http://identifiers.org/clinvar/163915 ^@ NM_144612.6(LOXHD1):c.3461G>A (p.Gly1154Asp) http://identifiers.org/clinvar/178399 ^@ NM_144612.6(LOXHD1):c.3426G>A (p.Val1142=) http://identifiers.org/clinvar/163917 ^@ NM_144612.6(LOXHD1):c.3162G>A (p.Thr1054=) http://identifiers.org/clinvar/163918 ^@ NM_144612.6(LOXHD1):c.3108C>T (p.Ala1036=) http://identifiers.org/clinvar/163919 ^@ NM_144612.6(LOXHD1):c.2303delG (p.Gly768Alafs) http://identifiers.org/clinvar/178401 ^@ NM_144612.6(LOXHD1):c.1945G>A (p.Asp649Asn) http://identifiers.org/clinvar/179067 ^@ NM_144612.6(LOXHD1):c.1844G>A (p.Arg615Gln) http://identifiers.org/clinvar/178402 ^@ NM_144612.6(LOXHD1):c.1815C>T (p.Asp605=) http://identifiers.org/clinvar/163927 ^@ NM_144612.6(LOXHD1):c.1752G>A (p.Thr584=) http://identifiers.org/clinvar/163929 ^@ NM_144612.6(LOXHD1):c.1617G>A (p.Met539Ile) http://identifiers.org/clinvar/163931 ^@ NM_144612.6(LOXHD1):c.1476G>T (p.Trp492Cys) http://identifiers.org/clinvar/163933 ^@ NM_144612.6(LOXHD1):c.1158T>G (p.Thr386=) http://identifiers.org/clinvar/163935 ^@ NM_144612.6(LOXHD1):c.1061T>A (p.Leu354His) http://identifiers.org/clinvar/178956 ^@ NM_144612.6(LOXHD1):c.977A>G (p.Asn326Ser) http://identifiers.org/clinvar/178405 ^@ NM_144612.6(LOXHD1):c.889A>C (p.Thr297Pro) http://identifiers.org/clinvar/163937 ^@ NM_144612.6(LOXHD1):c.710A>G (p.Asn237Ser) http://identifiers.org/clinvar/179616 ^@ NM_144612.6(LOXHD1):c.601G>A (p.Gly201Arg) http://identifiers.org/clinvar/163940 ^@ NM_144612.6(LOXHD1):c.274G>A (p.Val92Ile) http://identifiers.org/clinvar/163501 ^@ NM_133261.2(GIPC3):c.69G>A (p.Ala23=) http://identifiers.org/clinvar/179131 ^@ NM_133261.2(GIPC3):c.207C>T (p.Phe69=) http://identifiers.org/clinvar/179296 ^@ NM_133261.2(GIPC3):c.279_295del17 (p.Gln95Leufs) http://identifiers.org/clinvar/163506 ^@ NM_133261.2(GIPC3):c.440G>A (p.Arg147Gln) http://identifiers.org/clinvar/163508 ^@ NM_133261.2(GIPC3):c.626G>A (p.Cys209Tyr) http://identifiers.org/clinvar/163509 ^@ NM_133261.2(GIPC3):c.788-5C>T http://identifiers.org/clinvar/163511 ^@ NM_133261.2(GIPC3):c.875T>C (p.Phe292Ser) http://identifiers.org/clinvar/178780 ^@ NM_003573.2(LTBP4):c.1390T>A (p.Ser464Thr) http://identifiers.org/clinvar/163946 ^@ NM_001042544.1(LTBP4):c.2359A>G (p.Thr787Ala) http://identifiers.org/clinvar/163947 ^@ NM_003573.2(LTBP4):c.2655C>T (p.Asp885=) http://identifiers.org/clinvar/163705 ^@ NM_000214.2(JAG1):c.765C= (p.Tyr255=) http://identifiers.org/clinvar/177898 ^@ NM_000501.3(ELN):c.1741G>C (p.Gly581Arg) http://identifiers.org/clinvar/164525 ^@ NM_016239.3(MYO15A):c.5055C>T (p.Ala1685=) http://identifiers.org/clinvar/178443 ^@ NM_016239.3(MYO15A):c.5287C>T (p.Arg1763Trp) http://identifiers.org/clinvar/164528 ^@ NM_016239.3(MYO15A):c.5531+1G>A http://identifiers.org/clinvar/178444 ^@ NM_016239.3(MYO15A):c.5754T>G (p.Ile1918Met) http://identifiers.org/clinvar/164532 ^@ NM_016239.3(MYO15A):c.5866C>T (p.Arg1956Trp) http://identifiers.org/clinvar/178445 ^@ NM_016239.3(MYO15A):c.5894G>A (p.Arg1965His) http://identifiers.org/clinvar/179511 ^@ NM_016239.3(MYO15A):c.5958G>A (p.Glu1986=) http://identifiers.org/clinvar/164536 ^@ NM_016239.3(MYO15A):c.6046+1G>A http://identifiers.org/clinvar/164539 ^@ NM_016239.3(MYO15A):c.6186C>A (p.Ala2062=) http://identifiers.org/clinvar/164537 ^@ NM_016239.3(MYO15A):c.6292G>A (p.Asp2098Asn) http://identifiers.org/clinvar/179922 ^@ NM_016239.3(MYO15A):c.6490T>G (p.Phe2164Val) http://identifiers.org/clinvar/179206 ^@ NM_016239.3(MYO15A):c.6657G>A (p.Lys2219=) http://identifiers.org/clinvar/178448 ^@ NM_016239.3(MYO15A):c.6785G>A (p.Arg2262His) http://identifiers.org/clinvar/164544 ^@ NM_016239.3(MYO15A):c.6864G>A (p.Ser2288=) http://identifiers.org/clinvar/164546 ^@ NM_016239.3(MYO15A):c.7068C>T (p.Asp2356=) http://identifiers.org/clinvar/164548 ^@ NM_016239.3(MYO15A):c.7226delC (p.Pro2409Glnfs) http://identifiers.org/clinvar/164550 ^@ NM_016239.3(MYO15A):c.7665C>T (p.Ser2555=) http://identifiers.org/clinvar/179364 ^@ NM_016239.3(MYO15A):c.7833G>A (p.Glu2611=) http://identifiers.org/clinvar/164553 ^@ NM_016239.3(MYO15A):c.7893+14G>A http://identifiers.org/clinvar/164555 ^@ NM_016239.3(MYO15A):c.8269G>A (p.Val2757Met) http://identifiers.org/clinvar/164557 ^@ NM_016239.3(MYO15A):c.8708G>A (p.Arg2903Gln) http://identifiers.org/clinvar/164558 ^@ NM_016239.3(MYO15A):c.8811C>T (p.His2937=) http://identifiers.org/clinvar/164560 ^@ NM_016239.3(MYO15A):c.9322G>A (p.Val3108Ile) http://identifiers.org/clinvar/164562 ^@ NM_016239.3(MYO15A):c.9517+3G>T http://identifiers.org/clinvar/164564 ^@ NM_016239.3(MYO15A):c.9593T>C (p.Ile3198Thr) http://identifiers.org/clinvar/164566 ^@ NM_016239.3(MYO15A):c.9754A>G (p.Asn3252Asp) http://identifiers.org/clinvar/164568 ^@ NM_016239.3(MYO15A):c.9873C>T (p.Leu3291=) http://identifiers.org/clinvar/178451 ^@ NM_016239.3(MYO15A):c.9982A>C (p.Ser3328Arg) http://identifiers.org/clinvar/164571 ^@ NM_016239.3(MYO15A):c.10083-4A>C http://identifiers.org/clinvar/164573 ^@ NM_016239.3(MYO15A):c.10154T>C (p.Val3385Ala) http://identifiers.org/clinvar/178452 ^@ NM_016239.3(MYO15A):c.10242C>T (p.Phe3414=) http://identifiers.org/clinvar/177970 ^@ NM_003673.3(TCAP):c.269C>T (p.Pro90Leu) http://identifiers.org/clinvar/179032 ^@ NM_003673.3(TCAP):c.337C>T (p.Leu113Phe) http://identifiers.org/clinvar/177801 ^@ NM_003673.3(TCAP):c.453A= (p.Ala151=) http://identifiers.org/clinvar/163409 ^@ NM_001005862.2(ERBB2):c.2235_2236insTCCGTGATGGCT (p.Ala745_Gly746insSerValMetAla) http://identifiers.org/clinvar/165294 ^@ NM_139276.2(STAT3):c.1601-8dupT http://identifiers.org/clinvar/163167 ^@ NM_023036.4(DNAI2):c.834C>T (p.Thr278=) http://identifiers.org/clinvar/163168 ^@ NM_023036.4(DNAI2):c.1062A>G (p.Glu354=) http://identifiers.org/clinvar/163170 ^@ NM_023036.4(DNAI2):c.1644C>A (p.Ala548=) http://identifiers.org/clinvar/178968 ^@ NM_173477.4(USH1G):c.1152C>T (p.Asp384=) http://identifiers.org/clinvar/178570 ^@ NM_173477.4(USH1G):c.837C>G (p.Asp279Glu) http://identifiers.org/clinvar/179478 ^@ NM_173477.4(USH1G):c.607C>G (p.Gln203Glu) http://identifiers.org/clinvar/166402 ^@ NM_173477.4(USH1G):c.310A>G (p.Met104Val) http://identifiers.org/clinvar/177879 ^@ NM_000546.5(TP53):c.1010G>C (p.Arg337Pro) http://identifiers.org/clinvar/177825 ^@ NM_000546.5(TP53):c.375G>A (p.Thr125=) http://identifiers.org/clinvar/162845 ^@ NM_017950.3(CCDC40):c.507G>A (p.Ser169=) http://identifiers.org/clinvar/162846 ^@ NM_017950.3(CCDC40):c.677-4C>G http://identifiers.org/clinvar/179591 ^@ NM_017950.3(CCDC40):c.940-7G>A http://identifiers.org/clinvar/162848 ^@ NM_017950.3(CCDC40):c.1338C>T (p.Leu446=) http://identifiers.org/clinvar/162849 ^@ NM_017950.3(CCDC40):c.1889C>T (p.Ala630Val) http://identifiers.org/clinvar/178710 ^@ NM_017950.3(CCDC40):c.2255T>C (p.Leu752Pro) http://identifiers.org/clinvar/178711 ^@ NM_017950.3(CCDC40):c.3030T>C (p.Asp1010=) http://identifiers.org/clinvar/178712 ^@ NM_017950.3(CCDC40):c.3417A>G (p.Pro1139=) http://identifiers.org/clinvar/179501 ^@ NM_024422.4(DSC2):c.2626C>G (p.Gln876Glu) http://identifiers.org/clinvar/180113 ^@ NM_004949.4(DSC2):c.2398G>T (p.Ala800Ser) http://identifiers.org/clinvar/178912 ^@ NM_024422.4(DSC2):c.2208C>T (p.Asn736=) http://identifiers.org/clinvar/163183 ^@ NM_004949.4(DSC2):c.1776G>A (p.Ala592=) http://identifiers.org/clinvar/178018 ^@ NM_024422.4(DSC2):c.1721G>A (p.Ser574Asn) http://identifiers.org/clinvar/163187 ^@ NM_004949.4(DSC2):c.1591A>C (p.Arg531=) http://identifiers.org/clinvar/179440 ^@ NM_004949.4(DSC2):c.1077+11G>T http://identifiers.org/clinvar/179850 ^@ NM_004949.4(DSC2):c.721C>T (p.Pro241Ser) http://identifiers.org/clinvar/163192 ^@ NM_024422.4(DSC2):c.348A>G (p.Gln116=) http://identifiers.org/clinvar/163194 ^@ NM_004949.4(DSC2):c.70-11delT http://identifiers.org/clinvar/177857 ^@ NM_004949.4(DSC2):c.-243_-234delGGCCGATCGG http://identifiers.org/clinvar/179518 ^@ NM_004949.4(DSC2):c.-302C>T http://identifiers.org/clinvar/178664 ^@ NM_001943.4(DSG2):c.-11G>A http://identifiers.org/clinvar/163201 ^@ NM_001943.4(DSG2):c.291A>C (p.Pro97=) http://identifiers.org/clinvar/163202 ^@ NM_001943.4(DSG2):c.782G>A (p.Arg261His) http://identifiers.org/clinvar/163205 ^@ NM_001943.4(DSG2):c.1038_1040delGAA (p.Lys346del) http://identifiers.org/clinvar/179261 ^@ NM_001943.4(DSG2):c.1154G>A (p.Gly385Asp) http://identifiers.org/clinvar/179011 ^@ NM_001943.4(DSG2):c.1303G>A (p.Asp435Asn) http://identifiers.org/clinvar/178910 ^@ NM_001943.4(DSG2):c.1399G>A (p.Val467Ile) http://identifiers.org/clinvar/178852 ^@ NM_001943.4(DSG2):c.1487dupG (p.Cys496Trpfs) http://identifiers.org/clinvar/163213 ^@ NM_001943.4(DSG2):c.1724A>G (p.Asn575Ser) http://identifiers.org/clinvar/179294 ^@ NM_001943.4(DSG2):c.2096G>T (p.Ser699Ile) http://identifiers.org/clinvar/163216 ^@ NM_001943.4(DSG2):c.2252C>T (p.Thr751Ile) http://identifiers.org/clinvar/177961 ^@ NM_001943.4(DSG2):c.2368C>T (p.His790Tyr) http://identifiers.org/clinvar/163220 ^@ NM_001943.4(DSG2):c.2648C>T (p.Ser883Phe) http://identifiers.org/clinvar/163222 ^@ NM_001943.4(DSG2):c.2875_2876delCA (p.Gln959Glufs) http://identifiers.org/clinvar/163221 ^@ NM_001943.4(DSG2):c.3082G>A (p.Gly1028Ser) http://identifiers.org/clinvar/179429 ^@ NM_001943.4(DSG2):c.3175T>A (p.Ser1059Thr) http://identifiers.org/clinvar/178022 ^@ NM_001943.4(DSG2):c.3209C>T (p.Thr1070Met) http://identifiers.org/clinvar/163229 ^@ NM_001943.4(DSG2):c.*2C>T http://identifiers.org/clinvar/178280 ^@ NM_000371.3(TTR):c.190T>C (p.Phe64Leu) http://identifiers.org/clinvar/166364 ^@ NM_000371.3(TTR):c.354C>T (p.Asn118=) http://identifiers.org/clinvar/178033 ^@ NM_032975.3(DTNA):c.316C>G (p.Gln106Glu) http://identifiers.org/clinvar/179014 ^@ NM_001390.4(DTNA):c.1663-10G>A http://identifiers.org/clinvar/178887 ^@ NM_032975.3(DTNA):c.1518C>A (p.Ser506=) http://identifiers.org/clinvar/178389 ^@ NM_001145472.2(LOXHD1):c.3340G>A (p.Gly1114Arg) http://identifiers.org/clinvar/163883 ^@ NM_144612.6(LOXHD1):c.6597G>A (p.Gly2199=) http://identifiers.org/clinvar/163884 ^@ NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln) http://identifiers.org/clinvar/178391 ^@ NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) http://identifiers.org/clinvar/178392 ^@ NM_144612.6(LOXHD1):c.5913C>T (p.Asn1971=) http://identifiers.org/clinvar/178393 ^@ NM_144612.6(LOXHD1):c.5848G>A (p.Glu1950Lys) http://identifiers.org/clinvar/178613 ^@ NM_144612.6(LOXHD1):c.5682C>T (p.His1894=) http://identifiers.org/clinvar/178394 ^@ NM_144612.6(LOXHD1):c.5506+12G>A http://identifiers.org/clinvar/163896 ^@ NM_144612.6(LOXHD1):c.5437G>A (p.Val1813Ile) http://identifiers.org/clinvar/163898 ^@ NM_144612.6(LOXHD1):c.5103G>A (p.Thr1701=) http://identifiers.org/clinvar/163900 ^@ NM_001145472.2(LOXHD1):c.1836C>T (p.Tyr612=) http://identifiers.org/clinvar/178395 ^@ NM_144612.6(LOXHD1):c.5023C>T (p.Arg1675Cys) http://identifiers.org/clinvar/163902 ^@ NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) http://identifiers.org/clinvar/180062 ^@ NM_144612.6(LOXHD1):c.4525G>A (p.Gly1509Arg) http://identifiers.org/clinvar/163906 ^@ NM_144612.6(LOXHD1):c.4376-6G>A http://identifiers.org/clinvar/178397 ^@ NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) http://identifiers.org/clinvar/163909 ^@ NM_144612.6(LOXHD1):c.4149G>A (p.Thr1383=) http://identifiers.org/clinvar/163911 ^@ NM_144612.6(LOXHD1):c.4090G>T (p.Val1364Leu) http://identifiers.org/clinvar/163913 ^@ NM_144612.6(LOXHD1):c.3673A>G (p.Ser1225Gly) http://identifiers.org/clinvar/163914 ^@ NM_144612.6(LOXHD1):c.3471C>T (p.Gly1157=) http://identifiers.org/clinvar/163916 ^@ NM_144612.6(LOXHD1):c.3428A>T (p.Asp1143Val) http://identifiers.org/clinvar/179755 ^@ NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter) http://identifiers.org/clinvar/178821 ^@ NM_144612.6(LOXHD1):c.3145G>A (p.Glu1049Lys) http://identifiers.org/clinvar/178614 ^@ NM_144612.6(LOXHD1):c.2370C>T (p.Asp790=) http://identifiers.org/clinvar/163920 ^@ NM_144612.6(LOXHD1):c.2264G>T (p.Gly755Val) http://identifiers.org/clinvar/163922 ^@ NM_144612.6(LOXHD1):c.1868G>A (p.Arg623Lys) http://identifiers.org/clinvar/178400 ^@ NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) http://identifiers.org/clinvar/178994 ^@ NM_144612.6(LOXHD1):c.1810-6C>A http://identifiers.org/clinvar/163928 ^@ NM_144612.6(LOXHD1):c.1730T>G (p.Leu577Arg) http://identifiers.org/clinvar/163930 ^@ NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) http://identifiers.org/clinvar/163932 ^@ NM_144612.6(LOXHD1):c.1431+10G>T http://identifiers.org/clinvar/163934 ^@ NM_144612.6(LOXHD1):c.1134+11C>T http://identifiers.org/clinvar/178403 ^@ NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) http://identifiers.org/clinvar/178615 ^@ NM_144612.6(LOXHD1):c.966G>C (p.Gly322=) http://identifiers.org/clinvar/163936 ^@ NM_144612.6(LOXHD1):c.811C>T (p.Arg271Cys) http://identifiers.org/clinvar/178404 ^@ NM_144612.6(LOXHD1):c.611-15T>C http://identifiers.org/clinvar/163939 ^@ NM_144612.6(LOXHD1):c.287G>A (p.Arg96Gln) http://identifiers.org/clinvar/163938 ^@ NM_144612.6(LOXHD1):c.177G>A (p.Thr59=) http://identifiers.org/clinvar/163502 ^@ NM_133261.2(GIPC3):c.122C>A (p.Thr41Lys) http://identifiers.org/clinvar/178346 ^@ NM_133261.2(GIPC3):c.225+11C>T http://identifiers.org/clinvar/163505 ^@ NM_133261.2(GIPC3):c.298G>A (p.Asp100Asn) http://identifiers.org/clinvar/179107 ^@ NM_133261.2(GIPC3):c.576G>A (p.Gln192=) http://identifiers.org/clinvar/163507 ^@ NM_133261.2(GIPC3):c.674G>A (p.Arg225His) http://identifiers.org/clinvar/163510 ^@ NM_133261.2(GIPC3):c.856G>A (p.Val286Ile) http://identifiers.org/clinvar/163945 ^@ NM_001042544.1(LTBP4):c.580G>A (p.Val194Ile) http://identifiers.org/clinvar/179631 ^@ NM_001042544.1(LTBP4):c.1628-13C>G http://identifiers.org/clinvar/178781 ^@ NM_001042544.1(LTBP4):c.2458A>G (p.Thr820Ala) http://identifiers.org/clinvar/228316 ^@ NM_001042544.1(LTBP4):c.3236dupG (p.Tyr1080Leufs) http://identifiers.org/clinvar/177941 ^@ NM_000214.2(JAG1):c.2122_2125delCAGT (p.Gln708Valfs) http://identifiers.org/clinvar/179651 ^@ NC_000023.11:g.(?_120431323)_(120441894_?)del http://identifiers.org/clinvar/162709 ^@ NM_001199954.1(ACTG1):c.1110C>A (p.Val370=) http://identifiers.org/clinvar/162710 ^@ NM_001199954.1(ACTG1):c.1051A>C (p.Thr351Pro) http://identifiers.org/clinvar/162711 ^@ NM_001614.3(ACTG1):c.996C>A (p.Pro332=) http://identifiers.org/clinvar/162712 ^@ NM_001199954.1(ACTG1):c.945G>A (p.Lys315=) http://identifiers.org/clinvar/162713 ^@ NM_001614.3(ACTG1):c.909C>T (p.Thr303=) http://identifiers.org/clinvar/162714 ^@ NM_001199954.1(ACTG1):c.853T>C (p.Cys285Arg) http://identifiers.org/clinvar/162715 ^@ NM_001199954.1(ACTG1):c.636C>A (p.Ile212=) http://identifiers.org/clinvar/162716 ^@ NM_001199954.1(ACTG1):c.576C>T (p.Ile192=) http://identifiers.org/clinvar/162717 ^@ NM_001199954.1(ACTG1):c.498C>T (p.Tyr166=) http://identifiers.org/clinvar/162718 ^@ NM_001199954.1(ACTG1):c.432C>T (p.Ala144=) http://identifiers.org/clinvar/162719 ^@ NM_001199954.1(ACTG1):c.333C>T (p.Asn111=) http://identifiers.org/clinvar/162720 ^@ NM_001199954.1(ACTG1):c.315G>A (p.Leu105=) http://identifiers.org/clinvar/162721 ^@ NM_001199954.1(ACTG1):c.255C>T (p.Ile85=) http://identifiers.org/clinvar/162722 ^@ NM_001614.3(ACTG1):c.124-14G>A http://identifiers.org/clinvar/162756 ^@ NM_004316.3(ASCL1):c.172_186dupCAGCAGCAGCAGCAG (p.Gln62_Ala63insGlnGlnGlnGlnGln) http://identifiers.org/clinvar/162757 ^@ NM_004316.3(ASCL1):c.178_186dupCAGCAGCAG (p.Gln62_Ala63insGlnGlnGln) http://identifiers.org/clinvar/162759 ^@ NM_001692.3(ATP6V1B1):c.144C>T (p.Asn48=) http://identifiers.org/clinvar/162760 ^@ NM_001692.3(ATP6V1B1):c.317G>A (p.Cys106Tyr) http://identifiers.org/clinvar/162762 ^@ NM_001692.3(ATP6V1B1):c.815C>T (p.Ala272Val) http://identifiers.org/clinvar/162763 ^@ NM_001692.3(ATP6V1B1):c.688-7T>C http://identifiers.org/clinvar/162793 ^@ NM_004333.4(BRAF):c.1794_1796dupTAC (p.Thr599_Val600insThr) http://identifiers.org/clinvar/162998 ^@ NM_001885.2(CRYAB):c.510C>T (p.Thr170=) http://identifiers.org/clinvar/163003 ^@ NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/163230 ^@ NM_004415.3(DSP):c.208_209dupAC (p.Ile71Profs) http://identifiers.org/clinvar/163231 ^@ NM_004415.3(DSP):c.5378_5379dupAG (p.Ala1794Argfs) http://identifiers.org/clinvar/163381 ^@ NM_000501.3(ELN):c.43dupC (p.Leu15Profs) http://identifiers.org/clinvar/163382 ^@ NM_000501.3(ELN):c.131delC (p.Pro44Glnfs) http://identifiers.org/clinvar/163383 ^@ NM_000501.3(ELN):c.435delG (p.Leu146Cysfs) http://identifiers.org/clinvar/163384 ^@ NM_000501.3(ELN):c.469+5G>C http://identifiers.org/clinvar/163386 ^@ NM_000501.3(ELN):c.741delG (p.Thr248Glnfs) http://identifiers.org/clinvar/163387 ^@ NM_000501.3(ELN):c.800-2A>G http://identifiers.org/clinvar/163388 ^@ NM_000501.3(ELN):c.862dupG (p.Ala288Glyfs) http://identifiers.org/clinvar/163389 ^@ NM_000501.3(ELN):c.1097-1G>A http://identifiers.org/clinvar/163391 ^@ NM_000501.3(ELN):c.1150+1G>A http://identifiers.org/clinvar/163392 ^@ NM_000501.3(ELN):c.1153delG (p.Ala385Profs) http://identifiers.org/clinvar/163393 ^@ NM_000501.3(ELN):c.1415-9A>G http://identifiers.org/clinvar/163396 ^@ NM_000501.3(ELN):c.1785T>A (p.Tyr595Ter) http://identifiers.org/clinvar/163397 ^@ NM_000501.3(ELN):c.1858G>T (p.Gly620Ter) http://identifiers.org/clinvar/163398 ^@ NM_000501.3(ELN):c.1918+1G>A http://identifiers.org/clinvar/163403 ^@ NM_000117.2(EMD):c.266-2A>G http://identifiers.org/clinvar/163404 ^@ NM_000117.2(EMD):c.598T>C (p.Trp200Arg) http://identifiers.org/clinvar/163405 ^@ NM_000117.2(EMD):c.711C>T (p.Ile237=) http://identifiers.org/clinvar/163544 ^@ NM_000169.2(GLA):c.630C>T (p.Pro210=) http://identifiers.org/clinvar/163546 ^@ NM_000169.2(GLA):c.386T>C (p.Leu129Pro) http://identifiers.org/clinvar/163547 ^@ NM_000169.2(GLA):c.376A>G (p.Ser126Gly) http://identifiers.org/clinvar/163549 ^@ NM_000169.2(GLA):c.28C>T (p.Leu10=) http://identifiers.org/clinvar/163550 ^@ NM_000169.2(GLA):c.-8C>G http://identifiers.org/clinvar/163706 ^@ NM_002230.2(JUP):c.*2C>T http://identifiers.org/clinvar/163710 ^@ NM_002230.2(JUP):c.2069A>G (p.Asn690Ser) http://identifiers.org/clinvar/163717 ^@ NM_002230.2(JUP):c.1365C>T (p.Ala455=) http://identifiers.org/clinvar/163718 ^@ NM_021991.2(JUP):c.1213G>A (p.Val405Ile) http://identifiers.org/clinvar/163720 ^@ NM_021991.2(JUP):c.998G>A (p.Arg333His) http://identifiers.org/clinvar/163721 ^@ NM_021991.2(JUP):c.945C>T (p.Leu315=) http://identifiers.org/clinvar/163723 ^@ NM_002230.2(JUP):c.801C>T (p.Ala267=) http://identifiers.org/clinvar/163725 ^@ NM_002230.2(JUP):c.527G>A (p.Arg176Gln) http://identifiers.org/clinvar/163726 ^@ NM_021991.2(JUP):c.356C>T (p.Pro119Leu) http://identifiers.org/clinvar/163727 ^@ NM_021991.2(JUP):c.193G>T (p.Val65Leu) http://identifiers.org/clinvar/163787 ^@ NM_002290.4(LAMA4):c.2737G>A (p.Asp913Asn) http://identifiers.org/clinvar/163788 ^@ NM_002290.4(LAMA4):c.2634C>T (p.Leu878=) http://identifiers.org/clinvar/163789 ^@ NM_002290.4(LAMA4):c.2382G>A (p.Thr794=) http://identifiers.org/clinvar/163793 ^@ NM_002290.4(LAMA4):c.1593G>A (p.Ala531=) http://identifiers.org/clinvar/163796 ^@ NM_002290.4(LAMA4):c.412C>T (p.His138Tyr) http://identifiers.org/clinvar/163797 ^@ NM_002290.4(LAMA4):c.267C>T (p.Asn89=) http://identifiers.org/clinvar/163798 ^@ NM_002290.4(LAMA4):c.195+144T>C http://identifiers.org/clinvar/163799 ^@ NM_001105208.2(LAMA4):c.140C>T (p.Pro47Leu) http://identifiers.org/clinvar/163800 ^@ NM_001105208.2(LAMA4):c.106A>G (p.Ile36Val) http://identifiers.org/clinvar/164654 ^@ NM_000260.3(MYO7A):c.284A>T (p.Tyr95Phe) http://identifiers.org/clinvar/164656 ^@ NM_000260.3(MYO7A):c.397C>A (p.His133Asn) http://identifiers.org/clinvar/164663 ^@ NM_000260.3(MYO7A):c.973_976delATCC (p.Ile325Cysfs) http://identifiers.org/clinvar/164664 ^@ NM_000260.3(MYO7A):c.977T>A (p.Leu326Gln) http://identifiers.org/clinvar/164665 ^@ NM_000260.3(MYO7A):c.1006C>T (p.Arg336Cys) http://identifiers.org/clinvar/164666 ^@ NM_000260.3(MYO7A):c.1123C>G (p.Leu375Val) http://identifiers.org/clinvar/164672 ^@ NM_000260.3(MYO7A):c.1583T>G (p.Leu528Arg) http://identifiers.org/clinvar/164674 ^@ NM_000260.3(MYO7A):c.1726G>A (p.Asp576Asn) http://identifiers.org/clinvar/164677 ^@ NM_000260.3(MYO7A):c.2091G>A (p.Lys697=) http://identifiers.org/clinvar/164678 ^@ NM_000260.3(MYO7A):c.2106C>T (p.Arg702=) http://identifiers.org/clinvar/164681 ^@ NM_000260.3(MYO7A):c.2488C>T (p.Arg830Cys) http://identifiers.org/clinvar/164682 ^@ NM_000260.3(MYO7A):c.2625G>A (p.Ala875=) http://identifiers.org/clinvar/164683 ^@ NM_000260.3(MYO7A):c.2829G>A (p.Val943=) http://identifiers.org/clinvar/165004 ^@ NM_002880.3(RAF1):c.1804-11_1804-7dupCTTTG http://identifiers.org/clinvar/165328 ^@ NM_000116.4(TAZ):c.331C>T (p.His111Tyr) http://identifiers.org/clinvar/165330 ^@ NM_000116.4(TAZ):c.419C>T (p.Thr140Ile) http://identifiers.org/clinvar/165400 ^@ NM_004085.3(TIMM8A):c.-11G>T http://identifiers.org/clinvar/165461 ^@ NM_147196.2(TMIE):c.367_393del27insAAGAAGAAGAAGAAGAAGAAGAAGAAG (p.Lys123_Lys131=) http://identifiers.org/clinvar/166559 ^@ NM_000551.3(VHL):c.-61_-51dupCCCCGCGTCCG http://identifiers.org/clinvar/166564 ^@ NM_006005.3(WFS1):c.1441_1447dupCTGAAGG (p.Val483Alafs) http://identifiers.org/clinvar/166615 ^@ NM_198239.1(WISP3):c.794_795delGT (p.Cys265Leufs) http://identifiers.org/clinvar/166984 ^@ NM_001918.3(DBT):c.365A>G (p.Tyr122Cys) http://identifiers.org/clinvar/167818 ^@ NM_138959.2(VANGL1):c.523C>T (p.Arg175Trp) http://identifiers.org/clinvar/167383 ^@ NM_001077482.2(NR1I3):c.182G>A (p.Arg61His) http://identifiers.org/clinvar/166992 ^@ NM_005216.4(DDOST):c.1199C>T (p.Thr400Ile) http://identifiers.org/clinvar/167626 ^@ NM_001035.2(RYR2):c.3481G>C (p.Val1161Leu) http://identifiers.org/clinvar/167122 ^@ NM_001008216.1(GALE):c.602C>T (p.Pro201Leu) http://identifiers.org/clinvar/167180 ^@ NM_000191.2(HMGCL):c.698A>G (p.His233Arg) http://identifiers.org/clinvar/167664 ^@ NM_006642.3(SDCCAG8):c.1409A>G (p.Glu470Gly) http://identifiers.org/clinvar/167527 ^@ NM_001243766.1(POMGNT1):c.1462C>G (p.Arg488Gly) http://identifiers.org/clinvar/167372 ^@ NM_015102.4(NPHP4):c.3181G>A (p.Val1061Ile) http://identifiers.org/clinvar/167418 ^@ NM_003466.3(PAX8):c.797T>C (p.Leu266Ser) http://identifiers.org/clinvar/167858 ^@ NM_014795.3(ZEB2):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/167265 ^@ NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln) http://identifiers.org/clinvar/167331 ^@ NM_001271208.1(NEB):c.17588G>C (p.Arg5863Thr) http://identifiers.org/clinvar/167344 ^@ NM_001271208.1(NEB):c.218G>A (p.Arg73Gln) http://identifiers.org/clinvar/167641 ^@ NM_006920.4(SCN1A):c.2951T>G (p.Phe984Cys) http://identifiers.org/clinvar/167754 ^@ NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) http://identifiers.org/clinvar/167760 ^@ NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) http://identifiers.org/clinvar/167770 ^@ NM_001267550.2(TTN):c.75155G>A (p.Arg25052His) http://identifiers.org/clinvar/167779 ^@ NM_001267550.2(TTN):c.54631C>T (p.Pro18211Ser) http://identifiers.org/clinvar/167784 ^@ NM_001267550.2(TTN):c.45835G>A (p.Val15279Met) http://identifiers.org/clinvar/167792 ^@ NM_001267550.2(TTN):c.31060A>G (p.Lys10354Glu) http://identifiers.org/clinvar/167805 ^@ NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met) http://identifiers.org/clinvar/166845 ^@ NM_001030311.2(CERKL):c.1112G>A (p.Arg371Gln) http://identifiers.org/clinvar/167202 ^@ NM_002242.4(KCNJ13):c.632A>G (p.Glu211Gly) http://identifiers.org/clinvar/166938 ^@ NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) http://identifiers.org/clinvar/166948 ^@ NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) http://identifiers.org/clinvar/166969 ^@ NM_000104.3(CYP1B1):c.1358A>G (p.Asn453Ser) http://identifiers.org/clinvar/167389 ^@ NM_001135659.2(NRXN1):c.818A>G (p.Asp273Gly) http://identifiers.org/clinvar/167058 ^@ NM_001201543.1(FAM161A):c.1133T>G (p.Leu378Arg) http://identifiers.org/clinvar/167023 ^@ NM_003494.3(DYSF):c.3283C>T (p.Arg1095Cys) http://identifiers.org/clinvar/167714 ^@ NM_014014.4(SNRNP200):c.2800A>G (p.Thr934Ala) http://identifiers.org/clinvar/166631 ^@ NM_032169.4(ACAD11):c.50A>C (p.Gln17Pro) http://identifiers.org/clinvar/167717 ^@ NM_003106.3(SOX2):c.64G>A (p.Gly22Ser) http://identifiers.org/clinvar/167403 ^@ NM_015560.2(OPA1):c.1187T>G (p.Leu396Arg) http://identifiers.org/clinvar/166688 ^@ NM_032146.5(ARL6):c.532C>G (p.Gln178Glu) http://identifiers.org/clinvar/166725 ^@ NM_152618.2(BBS12):c.1157G>A (p.Arg386Gln) http://identifiers.org/clinvar/167536 ^@ NM_006017.2(PROM1):c.1090C>T (p.Leu364Phe) http://identifiers.org/clinvar/166888 ^@ NM_000087.3(CNGA1):c.352G>A (p.Asp118Asn) http://identifiers.org/clinvar/167695 ^@ NM_003060.3(SLC22A5):c.94A>C (p.Asn32His) http://identifiers.org/clinvar/167004 ^@ NM_001369.2(DNAH5):c.5396C>T (p.Ser1799Leu) http://identifiers.org/clinvar/167150 ^@ NM_000405.4(GM2A):c.175A>G (p.Ile59Val) http://identifiers.org/clinvar/167394 ^@ NM_022455.4(NSD1):c.4804G>A (p.Asp1602Asn) http://identifiers.org/clinvar/167349 ^@ NM_015384.4(NIPBL):c.1988A>C (p.Gln663Pro) http://identifiers.org/clinvar/167276 ^@ NM_022132.4(MCCC2):c.446C>T (p.Thr149Ile) http://identifiers.org/clinvar/167280 ^@ NM_022132.4(MCCC2):c.1367C>T (p.Ala456Val) http://identifiers.org/clinvar/167820 ^@ NM_004385.4(VCAN):c.4547A>G (p.Lys1516Arg) http://identifiers.org/clinvar/167241 ^@ NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) http://identifiers.org/clinvar/167249 ^@ NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) http://identifiers.org/clinvar/167350 ^@ NM_198586.2(NHLRC1):c.32C>A (p.Ala11Glu) http://identifiers.org/clinvar/167475 ^@ NM_138694.3(PKHD1):c.9866G>T (p.Ser3289Ile) http://identifiers.org/clinvar/167481 ^@ NM_138694.3(PKHD1):c.8575C>A (p.Leu2859Ile) http://identifiers.org/clinvar/167490 ^@ NM_138694.3(PKHD1):c.3148A>G (p.Ile1050Val) http://identifiers.org/clinvar/167494 ^@ NM_138694.3(PKHD1):c.1978T>C (p.Cys660Arg) http://identifiers.org/clinvar/167498 ^@ NM_138694.3(PKHD1):c.910C>G (p.Pro304Ala) http://identifiers.org/clinvar/167048 ^@ NM_001142800.1(EYS):c.6025A>G (p.Lys2009Glu) http://identifiers.org/clinvar/167052 ^@ NM_001142800.1(EYS):c.4039T>C (p.Ser1347Pro) http://identifiers.org/clinvar/167256 ^@ NM_181714.3(LCA5):c.764G>A (p.Arg255Gln) http://identifiers.org/clinvar/166743 ^@ NM_000056.4(BCKDHB):c.1144T>C (p.Cys382Arg) http://identifiers.org/clinvar/167579 ^@ NM_005045.3(RELN):c.6925G>A (p.Asp2309Asn) http://identifiers.org/clinvar/167584 ^@ NM_005045.3(RELN):c.5044G>A (p.Val1682Ile) http://identifiers.org/clinvar/167291 ^@ NM_001127500.2(MET):c.-14-4G>A http://identifiers.org/clinvar/166911 ^@ NM_014141.5(CNTNAP2):c.1504C>G (p.Leu502Val) http://identifiers.org/clinvar/166998 ^@ NM_001277115.1(DNAH11):c.640A>G (p.Ile214Val) http://identifiers.org/clinvar/167610 ^@ NM_203288.1(RP9):c.463G>A (p.Val155Ile) http://identifiers.org/clinvar/166622 ^@ NM_000927.4(ABCB1):c.2677T>G (p.Ser893Ala) http://identifiers.org/clinvar/167507 ^@ NM_000445.4(PLEC):c.7834G>C (p.Glu2612Gln) http://identifiers.org/clinvar/167177 ^@ NM_152419.2(HGSNAT):c.710C>A (p.Pro237Gln) http://identifiers.org/clinvar/166857 ^@ NM_017780.3(CHD7):c.1090C>T (p.Gln364Ter) http://identifiers.org/clinvar/166880 ^@ NM_017780.3(CHD7):c.8639C>T (p.Pro2880Leu) http://identifiers.org/clinvar/167828 ^@ NM_015243.2(VPS13B):c.1076A>G (p.Tyr359Cys) http://identifiers.org/clinvar/167833 ^@ NM_017890.4(VPS13B):c.9605T>C (p.Leu3202Pro) http://identifiers.org/clinvar/167195 ^@ NM_014425.4(INVS):c.2402G>A (p.Gly801Glu) http://identifiers.org/clinvar/166703 ^@ NM_000050.4(ASS1):c.961G>A (p.Val321Met) http://identifiers.org/clinvar/167738 ^@ NM_005802.4(TOPORS):c.2525C>A (p.Thr842Asn) http://identifiers.org/clinvar/167469 ^@ NM_006214.3(PHYH):c.206T>C (p.Ile69Thr) http://identifiers.org/clinvar/167429 ^@ NM_033056.3(PCDH15):c.3679G>A (p.Asp1227Asn) http://identifiers.org/clinvar/166815 ^@ NM_022124.5(CDH23):c.8867G>A (p.Arg2956His) http://identifiers.org/clinvar/167014 ^@ NM_001080463.1(DYNC2H1):c.8041A>G (p.Ile2681Val) http://identifiers.org/clinvar/167295 ^@ NM_031433.3(MFRP):c.950A>G (p.Tyr317Cys) http://identifiers.org/clinvar/166823 ^@ NM_016952.4(CDON):c.401A>C (p.Lys134Thr) http://identifiers.org/clinvar/166747 ^@ NM_004183.3(BEST1):c.1007T>G (p.Met336Arg) http://identifiers.org/clinvar/167712 ^@ NM_000543.4(SMPD1):c.1493G>A (p.Arg498His) http://identifiers.org/clinvar/166988 ^@ NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) http://identifiers.org/clinvar/167153 ^@ NM_024312.4(GNPTAB):c.2611G>A (p.Gly871Ser) http://identifiers.org/clinvar/166773 ^@ NM_000719.6(CACNA1C):c.4322C>T (p.Thr1441Met) http://identifiers.org/clinvar/167224 ^@ NM_003482.3(KMT2D):c.7109G>A (p.Arg2370His) http://identifiers.org/clinvar/167654 ^@ NM_014191.3(SCN8A):c.1424G>A (p.Arg475Gln) http://identifiers.org/clinvar/166827 ^@ NM_025114.3(CEP290):c.6764G>A (p.Gly2255Asp) http://identifiers.org/clinvar/166835 ^@ NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) http://identifiers.org/clinvar/166841 ^@ NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) http://identifiers.org/clinvar/166671 ^@ NM_001004127.2(ALG11):c.1183A>G (p.Met395Val) http://identifiers.org/clinvar/167605 ^@ NM_020366.3(RPGRIP1):c.2599C>T (p.Arg867Trp) http://identifiers.org/clinvar/167841 ^@ NM_182894.2(VSX2):c.576A>G (p.Ile192Met) http://identifiers.org/clinvar/167746 ^@ NM_002420.5(TRPM1):c.4264C>T (p.Arg1422Cys) http://identifiers.org/clinvar/166789 ^@ NM_000070.2(CAPN3):c.1354G>T (p.Asp452Tyr) http://identifiers.org/clinvar/167384 ^@ NM_014249.3(NR2E3):c.419A>G (p.Glu140Gly) http://identifiers.org/clinvar/166736 ^@ NM_033028.4(BBS4):c.1049A>G (p.Asn350Ser) http://identifiers.org/clinvar/167039 ^@ NM_000126.3(ETFA):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/167547 ^@ NM_145239.2(PRRT2):c.916G>A (p.Ala306Thr) http://identifiers.org/clinvar/166669 ^@ NM_019109.4(ALG1):c.800G>A (p.Ser267Asn) http://identifiers.org/clinvar/166889 ^@ NM_001297.4(CNGB1):c.3556C>T (p.Pro1186Ser) http://identifiers.org/clinvar/167554 ^@ NM_030665.3(RAI1):c.719C>T (p.Thr240Ile) http://identifiers.org/clinvar/167563 ^@ NM_030665.3(RAI1):c.4678C>T (p.Arg1560Ter) http://identifiers.org/clinvar/167678 ^@ NM_000023.3(SGCA):c.1120C>T (p.Arg374Cys) http://identifiers.org/clinvar/167471 ^@ NM_031220.3(PITPNM3):c.1124C>T (p.Pro375Leu) http://identifiers.org/clinvar/166641 ^@ NM_000018.3(ACADVL):c.538G>A (p.Ala180Thr) http://identifiers.org/clinvar/166647 ^@ NM_000018.3(ACADVL):c.1591C>T (p.Arg531Trp) http://identifiers.org/clinvar/166808 ^@ NM_017950.3(CCDC40):c.334A>G (p.Thr112Ala) http://identifiers.org/clinvar/167106 ^@ NM_001077182.2(FSCN2):c.412C>T (p.His138Tyr) http://identifiers.org/clinvar/167721 ^@ NM_000455.4(STK11):c.908T>G (p.Ile303Ser) http://identifiers.org/clinvar/167595 ^@ NM_207391.2(RGS9BP):c.668C>T (p.Ala223Val) http://identifiers.org/clinvar/167625 ^@ NM_000540.2(RYR1):c.14480T>A (p.Ile4827Asn) http://identifiers.org/clinvar/167538 ^@ NM_015629.3(PRPF31):c.1273C>T (p.Gln425Ter) http://identifiers.org/clinvar/167668 ^@ NM_032985.4(SEC23B):c.1648C>T (p.Arg550Ter) http://identifiers.org/clinvar/166931 ^@ NM_001849.3(COL6A2):c.1336G>C (p.Asp446His) http://identifiers.org/clinvar/167109 ^@ NM_006657.2(FTCD):c.1583A>C (p.Gln528Pro) http://identifiers.org/clinvar/166690 ^@ NM_000487.5(ARSA):c.1115G>C (p.Arg372Pro) http://identifiers.org/clinvar/167140 ^@ NM_000169.2(GLA):c.658C>T (p.Arg220Ter) http://identifiers.org/clinvar/166990 ^@ NM_178152.2(DCX):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/166658 ^@ NM_002025.3(AFF2):c.1541G>C (p.Arg514Pro) http://identifiers.org/clinvar/166625 ^@ NM_000033.3(ABCD1):c.1661G>A (p.Arg554His) http://identifiers.org/clinvar/167078 ^@ NM_001110556.1(FLNA):c.7153C>T (p.Gln2385Ter) http://identifiers.org/clinvar/167549 ^@ NM_173495.2(PTCHD1):c.1003G>A (p.Val335Ile) http://identifiers.org/clinvar/166702 ^@ NM_004006.2(DMD):c.7243C>T (p.Arg2415Cys) http://identifiers.org/clinvar/166824 ^@ NM_004006.2(DMD):c.2755A>T (p.Lys919Ter) http://identifiers.org/clinvar/166750 ^@ NM_001123383.1(BCOR):c.776C>A (p.Ser259Ter) http://identifiers.org/clinvar/166776 ^@ NM_005183.3(CACNA1F):c.5050G>T (p.Gly1684Trp) http://identifiers.org/clinvar/167187 ^@ NM_031407.6(HUWE1):c.5528G>A (p.Arg1843His) http://identifiers.org/clinvar/167407 ^@ NM_002547.2(OPHN1):c.413G>T (p.Gly138Val) http://identifiers.org/clinvar/167691 ^@ NM_006517.4(SLC16A2):c.590G>A (p.Arg197His) http://identifiers.org/clinvar/166709 ^@ NM_000052.6(ATP7A):c.4390A>G (p.Ile1464Val) http://identifiers.org/clinvar/167452 ^@ NM_004565.2(PEX14):c.1013A>G (p.Asp338Gly) http://identifiers.org/clinvar/167672 ^@ NM_022367.3(SEMA4A):c.1123C>T (p.Arg375Trp) http://identifiers.org/clinvar/166958 ^@ NM_201253.2(CRB1):c.2291G>A (p.Arg764His) http://identifiers.org/clinvar/166652 ^@ NM_001100.3(ACTA1):c.536G>T (p.Arg179Leu) http://identifiers.org/clinvar/167630 ^@ NM_001035.2(RYR2):c.8416C>A (p.Arg2806Ser) http://identifiers.org/clinvar/167125 ^@ NM_001008216.1(GALE):c.398C>T (p.Ala133Val) http://identifiers.org/clinvar/167066 ^@ NM_000143.3(FH):c.1067T>A (p.Leu356Ter) http://identifiers.org/clinvar/167675 ^@ NM_020451.2(SELENON):c.1450G>A (p.Glu484Lys) http://identifiers.org/clinvar/166954 ^@ NM_000098.2(CPT2):c.953T>G (p.Val318Gly) http://identifiers.org/clinvar/167376 ^@ NM_015102.4(NPHP4):c.2807C>A (p.Thr936Lys) http://identifiers.org/clinvar/167853 ^@ NM_014795.3(ZEB2):c.2206A>G (p.Met736Val) http://identifiers.org/clinvar/167262 ^@ NM_018328.4(MBD5):c.1570C>T (p.Pro524Ser) http://identifiers.org/clinvar/167328 ^@ NM_001271208.1(NEB):c.23372T>C (p.Met7791Thr) http://identifiers.org/clinvar/167339 ^@ NM_001271208.1(NEB):c.3461A>T (p.Asp1154Val) http://identifiers.org/clinvar/167639 ^@ NM_001165963.1(SCN1A):c.3733C>T (p.Arg1245Ter) http://identifiers.org/clinvar/167646 ^@ NM_001165963.1(SCN1A):c.1739G>A (p.Arg580Gln) http://identifiers.org/clinvar/167758 ^@ NM_001267550.2(TTN):c.98906A>G (p.Gln32969Arg) http://identifiers.org/clinvar/167765 ^@ NM_001267550.2(TTN):c.83434G>T (p.Ala27812Ser) http://identifiers.org/clinvar/167776 ^@ NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) http://identifiers.org/clinvar/167781 ^@ NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val) http://identifiers.org/clinvar/167788 ^@ NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) http://identifiers.org/clinvar/167798 ^@ NM_001267550.2(TTN):c.25679T>C (p.Ile8560Thr) http://identifiers.org/clinvar/167809 ^@ NM_001267550.2(TTN):c.3331C>T (p.Pro1111Ser) http://identifiers.org/clinvar/167844 ^@ NM_001006657.1(WDR35):c.2948A>G (p.Glu983Gly) http://identifiers.org/clinvar/167633 ^@ NM_000541.4(SAG):c.301G>A (p.Ala101Thr) http://identifiers.org/clinvar/166943 ^@ NM_004369.3(COL6A3):c.4510C>T (p.Arg1504Trp) http://identifiers.org/clinvar/166759 ^@ NM_001029883.2(C2orf71):c.3748C>T (p.Arg1250Cys) http://identifiers.org/clinvar/167387 ^@ NM_001135659.2(NRXN1):c.2065A>G (p.Ile689Val) http://identifiers.org/clinvar/167056 ^@ NM_001201543.1(FAM161A):c.2122G>A (p.Glu708Lys) http://identifiers.org/clinvar/167016 ^@ NM_003494.3(DYSF):c.509C>T (p.Ala170Val) http://identifiers.org/clinvar/167026 ^@ NM_003494.3(DYSF):c.5266C>T (p.Gln1756Ter) http://identifiers.org/clinvar/167196 ^@ NM_001023570.3(IQCB1):c.1178T>A (p.Ile393Asn) http://identifiers.org/clinvar/167379 ^@ NM_153240.4(NPHP3):c.1189C>T (p.Arg397Cys) http://identifiers.org/clinvar/167272 ^@ NM_020166.4(MCCC1):c.694C>T (p.Arg232Trp) http://identifiers.org/clinvar/167148 ^@ NM_000404.3(GLB1):c.901G>A (p.Ala301Thr) http://identifiers.org/clinvar/166738 ^@ NM_176824.2(BBS7):c.728G>A (p.Cys243Tyr) http://identifiers.org/clinvar/166804 ^@ NM_001080522.2(CC2D2A):c.3529C>T (p.Arg1177Cys) http://identifiers.org/clinvar/166978 ^@ NM_207352.3(CYP4V2):c.1393A>G (p.Arg465Gly) http://identifiers.org/clinvar/167044 ^@ NM_153717.2(EVC):c.1346C>A (p.Thr449Lys) http://identifiers.org/clinvar/167002 ^@ NM_001369.2(DNAH5):c.9896A>G (p.Gln3299Arg) http://identifiers.org/clinvar/167689 ^@ NM_001037633.1(SIL1):c.692T>A (p.Val231Glu) http://identifiers.org/clinvar/167116 ^@ NM_000806.5(GABRA1):c.640C>A (p.Arg214Ser) http://identifiers.org/clinvar/167158 ^@ NM_000843.3(GRM6):c.1639C>T (p.Arg547Cys) http://identifiers.org/clinvar/167412 ^@ NM_000436.3(OXCT1):c.112C>T (p.Arg38Cys) http://identifiers.org/clinvar/167278 ^@ NM_022132.4(MCCC2):c.599T>A (p.Ile200Asn) http://identifiers.org/clinvar/167176 ^@ NM_000521.3(HEXB):c.1652G>A (p.Cys551Tyr) http://identifiers.org/clinvar/167823 ^@ NM_004385.4(VCAN):c.5477G>A (p.Arg1826His) http://identifiers.org/clinvar/167246 ^@ NM_000426.3(LAMA2):c.6697G>A (p.Val2233Ile) http://identifiers.org/clinvar/167038 ^@ NM_005670.3(EPM2A):c.376A>G (p.Ile126Val) http://identifiers.org/clinvar/167463 ^@ NM_000287.3(PEX6):c.2426C>T (p.Ala809Val) http://identifiers.org/clinvar/167478 ^@ NM_138694.3(PKHD1):c.9719G>T (p.Arg3240Leu) http://identifiers.org/clinvar/167485 ^@ NM_138694.3(PKHD1):c.6499C>T (p.Gln2167Ter) http://identifiers.org/clinvar/167492 ^@ NM_138694.3(PKHD1):c.2180A>G (p.Asn727Ser) http://identifiers.org/clinvar/167496 ^@ NM_138694.3(PKHD1):c.1652C>T (p.Pro551Leu) http://identifiers.org/clinvar/167500 ^@ NM_138694.3(PKHD1):c.131G>T (p.Gly44Val) http://identifiers.org/clinvar/167050 ^@ NM_001142800.1(EYS):c.5474C>A (p.Thr1825Asn) http://identifiers.org/clinvar/167694 ^@ NM_012434.4(SLC17A5):c.43G>T (p.Glu15Ter) http://identifiers.org/clinvar/167258 ^@ NM_181714.3(LCA5):c.71T>C (p.Leu24Ser) http://identifiers.org/clinvar/167576 ^@ NM_005045.3(RELN):c.9329G>A (p.Arg3110Gln) http://identifiers.org/clinvar/167581 ^@ NM_005045.3(RELN):c.5923G>A (p.Gly1975Ser) http://identifiers.org/clinvar/167098 ^@ NM_148898.3(FOXP2):c.1358G>T (p.Ser453Ile) http://identifiers.org/clinvar/167293 ^@ NM_001127500.2(MET):c.3862G>A (p.Gly1288Ser) http://identifiers.org/clinvar/166914 ^@ NM_014141.5(CNTNAP2):c.3595G>T (p.Ala1199Ser) http://identifiers.org/clinvar/167001 ^@ NM_001277115.1(DNAH11):c.11402C>G (p.Pro3801Arg) http://identifiers.org/clinvar/166698 ^@ NM_000048.3(ASL):c.503G>A (p.Arg168His) http://identifiers.org/clinvar/167680 ^@ NM_003919.2(SGCE):c.617A>G (p.Asp206Gly) http://identifiers.org/clinvar/167510 ^@ NM_000445.4(PLEC):c.4679G>A (p.Arg1560Gln) http://identifiers.org/clinvar/167602 ^@ NM_006269.1(RP1):c.2615G>A (p.Arg872His) http://identifiers.org/clinvar/166870 ^@ NM_017780.3(CHD7):c.6571G>A (p.Glu2191Lys) http://identifiers.org/clinvar/167456 ^@ NM_001079867.1(PEX2):c.269C>T (p.Ser90Phe) http://identifiers.org/clinvar/167831 ^@ NM_017890.4(VPS13B):c.6962T>C (p.Val2321Ala) http://identifiers.org/clinvar/167837 ^@ NM_017890.4(VPS13B):c.11731G>A (p.Val3911Ile) http://identifiers.org/clinvar/167745 ^@ NM_012210.3(TRIM32):c.257T>C (p.Ile86Thr) http://identifiers.org/clinvar/167033 ^@ NM_024757.4(EHMT1):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/167548 ^@ NM_000264.3(PTCH1):c.1892C>T (p.Thr631Ile) http://identifiers.org/clinvar/167570 ^@ NM_002900.2(RBP3):c.2743G>A (p.Asp915Asn) http://identifiers.org/clinvar/166812 ^@ NM_022124.5(CDH23):c.3301A>G (p.Ile1101Val) http://identifiers.org/clinvar/167012 ^@ NM_001080463.1(DYNC2H1):c.5821G>C (p.Ala1941Pro) http://identifiers.org/clinvar/166679 ^@ NM_024740.2(ALG9):c.1031G>A (p.Gly344Asp) http://identifiers.org/clinvar/167299 ^@ NM_031433.3(MFRP):c.406G>A (p.Val136Met) http://identifiers.org/clinvar/166633 ^@ NM_014384.2(ACAD8):c.965T>C (p.Met322Thr) http://identifiers.org/clinvar/167289 ^@ NM_000244.3(MEN1):c.1256T>G (p.Leu419Arg) http://identifiers.org/clinvar/166677 ^@ NM_001007027.2(ALG8):c.1316T>C (p.Ile439Thr) http://identifiers.org/clinvar/166770 ^@ NM_000719.6(CACNA1C):c.3373A>G (p.Ile1125Val) http://identifiers.org/clinvar/167218 ^@ NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter) http://identifiers.org/clinvar/167228 ^@ NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter) http://identifiers.org/clinvar/166721 ^@ NM_024685.3(BBS10):c.1616C>T (p.Pro539Leu) http://identifiers.org/clinvar/166832 ^@ NM_025114.3(CEP290):c.5521G>A (p.Glu1841Lys) http://identifiers.org/clinvar/166838 ^@ NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) http://identifiers.org/clinvar/166919 ^@ NM_020751.2(COG6):c.898C>T (p.His300Tyr) http://identifiers.org/clinvar/166884 ^@ NM_006493.2(CLN5):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/167092 ^@ NM_005249.4(FOXG1):c.670G>A (p.Gly224Ser) http://identifiers.org/clinvar/167119 ^@ NM_000153.3(GALC):c.1592G>A (p.Arg531His) http://identifiers.org/clinvar/167749 ^@ NM_002420.5(TRPM1):c.2782C>T (p.Arg928Trp) http://identifiers.org/clinvar/166791 ^@ NM_000070.2(CAPN3):c.1699G>T (p.Gly567Trp) http://identifiers.org/clinvar/166732 ^@ NM_033028.4(BBS4):c.64C>T (p.Arg22Trp) http://identifiers.org/clinvar/167171 ^@ NM_005477.2(HCN4):c.1459G>A (p.Val487Met) http://identifiers.org/clinvar/166781 ^@ NM_021098.2(CACNA1H):c.5897C>T (p.Ala1966Val) http://identifiers.org/clinvar/166966 ^@ NM_004380.2(CREBBP):c.701C>T (p.Ala234Val) http://identifiers.org/clinvar/166908 ^@ NM_001127897.3(RPGRIP1L):c.2716C>T (p.Pro906Ser) http://identifiers.org/clinvar/166892 ^@ NM_001297.4(CNGB1):c.2732A>G (p.Lys911Arg) http://identifiers.org/clinvar/167561 ^@ NM_030665.3(RAI1):c.3583A>T (p.Lys1195Ter) http://identifiers.org/clinvar/167322 ^@ NM_000263.3(NAGLU):c.1322C>T (p.Thr441Met) http://identifiers.org/clinvar/166666 ^@ NM_014336.4(AIPL1):c.880G>C (p.Glu294Gln) http://identifiers.org/clinvar/167594 ^@ NM_003835.3(RGS9):c.1645C>T (p.Arg549Cys) http://identifiers.org/clinvar/166644 ^@ NM_000018.3(ACADVL):c.992A>C (p.Lys331Thr) http://identifiers.org/clinvar/167751 ^@ NM_207346.2(TSEN54):c.949G>A (p.Ala317Thr) http://identifiers.org/clinvar/167113 ^@ NM_000152.4(GAA):c.1841C>A (p.Thr614Lys) http://identifiers.org/clinvar/167730 ^@ NM_001083962.1(TCF4):c.341G>A (p.Arg114Lys) http://identifiers.org/clinvar/166765 ^@ NM_001127221.1(CACNA1A):c.6497G>A (p.Arg2166His) http://identifiers.org/clinvar/167615 ^@ NM_000540.2(RYR1):c.1087C>T (p.Pro363Ser) http://identifiers.org/clinvar/167072 ^@ NM_024301.4(FKRP):c.1073C>T (p.Pro358Leu) http://identifiers.org/clinvar/167666 ^@ NM_006363.4(SEC23B):c.1276G>A (p.Val426Ile) http://identifiers.org/clinvar/167207 ^@ NM_172107.3(KCNQ2):c.860C>T (p.Thr287Ile) http://identifiers.org/clinvar/166935 ^@ NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn) http://identifiers.org/clinvar/167252 ^@ NM_004737.5(LARGE1):c.334G>A (p.Glu112Lys) http://identifiers.org/clinvar/167135 ^@ NM_000169.2(GLA):c.1024C>G (p.Arg342Gly) http://identifiers.org/clinvar/167142 ^@ NM_000169.2(GLA):c.593T>C (p.Ile198Thr) http://identifiers.org/clinvar/167102 ^@ NM_014728.3(FRMPD4):c.3379G>A (p.Glu1127Lys) http://identifiers.org/clinvar/167307 ^@ NM_000252.2(MTM1):c.1169T>A (p.Met390Lys) http://identifiers.org/clinvar/167320 ^@ NM_003491.3(NAA10):c.125C>T (p.Ser42Phe) http://identifiers.org/clinvar/167347 ^@ NM_198270.3(NHS):c.4603T>A (p.Ser1535Thr) http://identifiers.org/clinvar/166764 ^@ NM_004006.2(DMD):c.4741A>G (p.Asn1581Asp) http://identifiers.org/clinvar/166817 ^@ NM_004006.2(DMD):c.2956C>T (p.Gln986Ter) http://identifiers.org/clinvar/166867 ^@ NM_004006.2(DMD):c.295A>G (p.Ile99Val) http://identifiers.org/clinvar/167325 ^@ NM_000266.3(NDP):c.266T>C (p.Phe89Ser) http://identifiers.org/clinvar/166816 ^@ NM_001170460.1(CDK16):c.122C>G (p.Ala41Gly) http://identifiers.org/clinvar/167687 ^@ NM_020717.3(SHROOM4):c.3211C>T (p.Arg1071Trp) http://identifiers.org/clinvar/167064 ^@ NM_004463.2(FGD1):c.281A>G (p.His94Arg) http://identifiers.org/clinvar/167363 ^@ NM_018977.3(NLGN3):c.1894A>G (p.Thr632Ala) http://identifiers.org/clinvar/166712 ^@ NM_000489.4(ATRX):c.3281G>A (p.Cys1094Tyr) http://identifiers.org/clinvar/167451 ^@ NM_004565.2(PEX14):c.824C>T (p.Ser275Leu) http://identifiers.org/clinvar/167744 ^@ NM_001043353.1(TPM3):c.436C>T (p.Arg146Ter) http://identifiers.org/clinvar/166701 ^@ NM_018136.4(ASPM):c.4402G>A (p.Ala1468Thr) http://identifiers.org/clinvar/167572 ^@ NM_183059.2(RD3):c.139C>T (p.Arg47Cys) http://identifiers.org/clinvar/167628 ^@ NM_001035.2(RYR2):c.4760A>G (p.His1587Arg) http://identifiers.org/clinvar/167123 ^@ NM_001008216.1(GALE):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/167065 ^@ NM_000143.3(FH):c.1154C>A (p.Ala385Asp) http://identifiers.org/clinvar/167674 ^@ NM_020451.2(SELENON):c.581C>T (p.Ala194Val) http://identifiers.org/clinvar/166953 ^@ NM_000098.2(CPT2):c.886C>T (p.Arg296Ter) http://identifiers.org/clinvar/167373 ^@ NM_015102.4(NPHP4):c.2882G>A (p.Arg961His) http://identifiers.org/clinvar/167419 ^@ NM_013953.3(PAX8):c.473C>T (p.Thr158Met) http://identifiers.org/clinvar/167860 ^@ NM_014795.3(ZEB2):c.280G>T (p.Glu94Ter) http://identifiers.org/clinvar/167266 ^@ NM_018328.4(MBD5):c.3887G>A (p.Arg1296Gln) http://identifiers.org/clinvar/167334 ^@ NM_001271208.1(NEB):c.10231G>A (p.Ala3411Thr) http://identifiers.org/clinvar/167637 ^@ NM_006920.4(SCN1A):c.4413C>G (p.Ile1471Met) http://identifiers.org/clinvar/167642 ^@ NM_006920.4(SCN1A):c.2890G>C (p.Val964Leu) http://identifiers.org/clinvar/167757 ^@ NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) http://identifiers.org/clinvar/167762 ^@ NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) http://identifiers.org/clinvar/167772 ^@ NM_001267550.2(TTN):c.72394G>A (p.Val24132Ile) http://identifiers.org/clinvar/167780 ^@ NM_001267550.2(TTN):c.51442C>T (p.Pro17148Ser) http://identifiers.org/clinvar/167786 ^@ NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) http://identifiers.org/clinvar/167793 ^@ NM_001267550.2(TTN):c.27532G>A (p.Asp9178Asn) http://identifiers.org/clinvar/167806 ^@ NM_001267550.2(TTN):c.5245A>G (p.Asn1749Asp) http://identifiers.org/clinvar/166847 ^@ NM_001030311.2(CERKL):c.589G>T (p.Ala197Ser) http://identifiers.org/clinvar/167203 ^@ NM_002242.4(KCNJ13):c.473C>T (p.Ala158Val) http://identifiers.org/clinvar/166939 ^@ NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) http://identifiers.org/clinvar/167864 ^@ NM_144631.5(ZNF513):c.781G>A (p.Val261Met) http://identifiers.org/clinvar/167715 ^@ NM_005633.3(SOS1):c.143T>C (p.Val48Ala) http://identifiers.org/clinvar/167390 ^@ NM_001135659.2(NRXN1):c.569A>G (p.Asn190Ser) http://identifiers.org/clinvar/167059 ^@ NM_032180.2(FAM161A):c.197C>T (p.Thr66Ile) http://identifiers.org/clinvar/167025 ^@ NM_003494.3(DYSF):c.3832C>T (p.Gln1278Ter) http://identifiers.org/clinvar/167193 ^@ NM_016247.3(IMPG2):c.1946T>C (p.Leu649Pro) http://identifiers.org/clinvar/167378 ^@ NM_153240.4(NPHP3):c.3550G>A (p.Ala1184Thr) http://identifiers.org/clinvar/167270 ^@ NM_020166.4(MCCC1):c.1399A>T (p.Ile467Phe) http://identifiers.org/clinvar/167405 ^@ NM_015560.2(OPA1):c.1712G>A (p.Arg571His) http://identifiers.org/clinvar/167190 ^@ NM_000203.4(IDUA):c.979G>C (p.Ala327Pro) http://identifiers.org/clinvar/166727 ^@ NM_152618.2(BBS12):c.1399G>A (p.Asp467Asn) http://identifiers.org/clinvar/167346 ^@ NM_001199397.1(NEK1):c.2474G>T (p.Gly825Val) http://identifiers.org/clinvar/167045 ^@ NM_147127.4(EVC2):c.3020A>C (p.Lys1007Thr) http://identifiers.org/clinvar/167696 ^@ NM_003060.3(SLC22A5):c.338G>A (p.Cys113Tyr) http://identifiers.org/clinvar/167688 ^@ NM_001037633.1(SIL1):c.1115G>A (p.Gly372Asp) http://identifiers.org/clinvar/167151 ^@ NM_000405.4(GM2A):c.205A>G (p.Met69Val) http://identifiers.org/clinvar/167395 ^@ NM_022455.4(NSD1):c.8071G>A (p.Ala2691Thr) http://identifiers.org/clinvar/167410 ^@ NM_000436.3(OXCT1):c.733G>T (p.Val245Phe) http://identifiers.org/clinvar/167277 ^@ NM_022132.4(MCCC2):c.478G>A (p.Ala160Thr) http://identifiers.org/clinvar/167175 ^@ NM_000521.3(HEXB):c.1601G>T (p.Cys534Phe) http://identifiers.org/clinvar/167821 ^@ NM_004385.4(VCAN):c.4604A>G (p.Glu1535Gly) http://identifiers.org/clinvar/167245 ^@ NM_000426.3(LAMA2):c.5749A>T (p.Ile1917Phe) http://identifiers.org/clinvar/166664 ^@ NM_017651.4(AHI1):c.517G>A (p.Ala173Thr) http://identifiers.org/clinvar/167161 ^@ NM_000409.4(GUCA1A):c.364A>G (p.Ile122Val) http://identifiers.org/clinvar/167477 ^@ NM_138694.3(PKHD1):c.9788T>C (p.Val3263Ala) http://identifiers.org/clinvar/167483 ^@ NM_138694.3(PKHD1):c.7298A>T (p.Asp2433Val) http://identifiers.org/clinvar/167491 ^@ NM_138694.3(PKHD1):c.2725C>T (p.Arg909Ter) http://identifiers.org/clinvar/167495 ^@ NM_138694.3(PKHD1):c.1925C>T (p.Thr642Ile) http://identifiers.org/clinvar/167499 ^@ NM_138694.3(PKHD1):c.370C>T (p.Arg124Ter) http://identifiers.org/clinvar/167049 ^@ NM_001142800.1(EYS):c.5777A>G (p.Asp1926Gly) http://identifiers.org/clinvar/166950 ^@ NM_001851.4(COL9A1):c.2240C>G (p.Pro747Arg) http://identifiers.org/clinvar/167257 ^@ NM_181714.3(LCA5):c.77A>C (p.Asp26Ala) http://identifiers.org/clinvar/167574 ^@ NM_005045.3(RELN):c.10016T>C (p.Met3339Thr) http://identifiers.org/clinvar/167580 ^@ NM_005045.3(RELN):c.6193G>A (p.Val2065Ile) http://identifiers.org/clinvar/167585 ^@ NM_005045.3(RELN):c.4408G>A (p.Val1470Ile) http://identifiers.org/clinvar/167292 ^@ NM_001127500.2(MET):c.901A>G (p.Thr301Ala) http://identifiers.org/clinvar/166912 ^@ NM_014141.5(CNTNAP2):c.3335C>T (p.Pro1112Leu) http://identifiers.org/clinvar/167000 ^@ NM_001277115.1(DNAH11):c.10976C>T (p.Ala3659Val) http://identifiers.org/clinvar/166740 ^@ NM_198428.2(BBS9):c.1993C>T (p.Leu665Phe) http://identifiers.org/clinvar/166619 ^@ NM_000927.4(ABCB1):c.2677T>A (p.Ser893Thr) http://identifiers.org/clinvar/167508 ^@ NM_000445.4(PLEC):c.5557C>T (p.Arg1853Trp) http://identifiers.org/clinvar/167178 ^@ NM_152419.2(HGSNAT):c.1840G>A (p.Val614Ile) http://identifiers.org/clinvar/166858 ^@ NM_017780.3(CHD7):c.1369C>T (p.Gln457Ter) http://identifiers.org/clinvar/167286 ^@ NM_024596.4(MCPH1):c.2108G>A (p.Arg703His) http://identifiers.org/clinvar/167830 ^@ NM_017890.4(VPS13B):c.4832A>G (p.Asn1611Ser) http://identifiers.org/clinvar/167835 ^@ NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) http://identifiers.org/clinvar/167069 ^@ NM_001079802.1(FKTN):c.411C>A (p.Cys137Ter) http://identifiers.org/clinvar/166896 ^@ NM_007171.3(POMT1):c.1318G>A (p.Ala440Thr) http://identifiers.org/clinvar/167739 ^@ NM_005802.4(TOPORS):c.2245A>G (p.Asn749Asp) http://identifiers.org/clinvar/167571 ^@ NM_002900.2(RBP3):c.1840G>A (p.Asp614Asn) http://identifiers.org/clinvar/166811 ^@ NM_022124.5(CDH23):c.3022G>A (p.Val1008Met) http://identifiers.org/clinvar/167010 ^@ NM_001080463.1(DYNC2H1):c.5695G>A (p.Val1899Ile) http://identifiers.org/clinvar/166678 ^@ NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) http://identifiers.org/clinvar/167296 ^@ NM_031433.3(MFRP):c.629G>T (p.Gly210Val) http://identifiers.org/clinvar/166632 ^@ NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp) http://identifiers.org/clinvar/167709 ^@ NM_000543.4(SMPD1):c.475T>C (p.Cys159Arg) http://identifiers.org/clinvar/167552 ^@ NM_005609.3(PYGM):c.848A>G (p.Asn283Ser) http://identifiers.org/clinvar/166989 ^@ NM_001360.2(DHCR7):c.208G>A (p.Gly70Ser) http://identifiers.org/clinvar/166708 ^@ NM_012463.3(ATP6V0A2):c.1486G>A (p.Ala496Thr) http://identifiers.org/clinvar/167217 ^@ NM_003482.3(KMT2D):c.16487T>G (p.Ile5496Ser) http://identifiers.org/clinvar/167226 ^@ NM_003482.3(KMT2D):c.4009G>T (p.Glu1337Ter) http://identifiers.org/clinvar/166720 ^@ NM_024685.3(BBS10):c.1631A>G (p.Asn544Ser) http://identifiers.org/clinvar/166829 ^@ NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) http://identifiers.org/clinvar/166836 ^@ NM_025114.3(CEP290):c.1667T>A (p.Ile556Asn) http://identifiers.org/clinvar/166717 ^@ NM_194318.3(B3GLCT):c.902A>T (p.Tyr301Phe) http://identifiers.org/clinvar/166672 ^@ NM_001004127.2(ALG11):c.1309T>G (p.Phe437Val) http://identifiers.org/clinvar/167089 ^@ NM_005249.4(FOXG1):c.206C>A (p.Pro69Gln) http://identifiers.org/clinvar/166905 ^@ NM_013382.5(POMT2):c.1478C>T (p.Pro493Leu) http://identifiers.org/clinvar/167748 ^@ NM_002420.5(TRPM1):c.2998C>T (p.Arg1000Ter) http://identifiers.org/clinvar/166790 ^@ NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) http://identifiers.org/clinvar/167385 ^@ NM_014249.3(NR2E3):c.488T>C (p.Met163Thr) http://identifiers.org/clinvar/167168 ^@ NM_005477.2(HCN4):c.3383G>T (p.Gly1128Val) http://identifiers.org/clinvar/167599 ^@ NM_000326.4(RLBP1):c.530T>C (p.Leu177Ser) http://identifiers.org/clinvar/166965 ^@ NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) http://identifiers.org/clinvar/167606 ^@ NM_015272.4(RPGRIP1L):c.3395A>G (p.Gln1132Arg) http://identifiers.org/clinvar/166891 ^@ NM_001297.4(CNGB1):c.2957A>T (p.Asn986Ile) http://identifiers.org/clinvar/167560 ^@ NM_030665.3(RAI1):c.3181A>T (p.Thr1061Ser) http://identifiers.org/clinvar/167449 ^@ NM_000286.2(PEX12):c.59T>C (p.Ile20Thr) http://identifiers.org/clinvar/166665 ^@ NM_014336.4(AIPL1):c.1006G>A (p.Ala336Thr) http://identifiers.org/clinvar/167593 ^@ NM_003835.3(RGS9):c.773C>T (p.Ser258Leu) http://identifiers.org/clinvar/166643 ^@ NM_000018.3(ACADVL):c.637G>C (p.Ala213Pro) http://identifiers.org/clinvar/166916 ^@ NM_018714.2(COG1):c.1958G>A (p.Gly653Glu) http://identifiers.org/clinvar/167112 ^@ NM_000152.4(GAA):c.1219T>C (p.Tyr407His) http://identifiers.org/clinvar/167728 ^@ NM_001083962.1(TCF4):c.748C>T (p.Gln250Ter) http://identifiers.org/clinvar/167133 ^@ NM_000159.3(GCDH):c.1240G>A (p.Glu414Lys) http://identifiers.org/clinvar/167614 ^@ NM_000540.2(RYR1):c.641C>T (p.Thr214Met) http://identifiers.org/clinvar/167071 ^@ NM_024301.4(FKRP):c.740C>A (p.Pro247Gln) http://identifiers.org/clinvar/167665 ^@ NM_006363.4(SEC23B):c.74C>A (p.Pro25His) http://identifiers.org/clinvar/167008 ^@ NM_003859.2(DPM1):c.506A>G (p.Asn169Ser) http://identifiers.org/clinvar/166934 ^@ NM_001849.3(COL6A2):c.2528G>A (p.Arg843Gln) http://identifiers.org/clinvar/167251 ^@ NM_004737.5(LARGE1):c.1577G>A (p.Arg526His) http://identifiers.org/clinvar/167421 ^@ NM_001184880.1(PCDH19):c.545G>C (p.Gly182Ala) http://identifiers.org/clinvar/167141 ^@ NM_000169.2(GLA):c.619T>C (p.Tyr207His) http://identifiers.org/clinvar/166991 ^@ NM_178152.2(DCX):c.763G>T (p.Glu255Ter) http://identifiers.org/clinvar/166659 ^@ NM_002025.3(AFF2):c.2656C>G (p.Pro886Ala) http://identifiers.org/clinvar/166626 ^@ NM_000033.3(ABCD1):c.1825G>A (p.Glu609Lys) http://identifiers.org/clinvar/167351 ^@ NM_198270.3(NHS):c.152C>T (p.Ala51Val) http://identifiers.org/clinvar/166668 ^@ NM_004006.2(DMD):c.8680G>T (p.Glu2894Ter) http://identifiers.org/clinvar/166707 ^@ NM_004006.2(DMD):c.6452G>A (p.Gly2151Asp) http://identifiers.org/clinvar/166794 ^@ NM_003688.3(CASK):c.1922G>A (p.Arg641Lys) http://identifiers.org/clinvar/167032 ^@ NM_025184.3(EFHC2):c.404G>A (p.Arg135Gln) http://identifiers.org/clinvar/166780 ^@ NM_005183.3(CACNA1F):c.41C>T (p.Pro14Leu) http://identifiers.org/clinvar/167061 ^@ NM_004463.2(FGD1):c.2786C>T (p.Pro929Leu) http://identifiers.org/clinvar/166874 ^@ NM_005120.2(MED12):c.4831C>G (p.Arg1611Gly) http://identifiers.org/clinvar/166711 ^@ NM_000489.4(ATRX):c.5161G>A (p.Gly1721Ser) http://identifiers.org/clinvar/167467 ^@ NM_000291.3(PGK1):c.1114G>A (p.Gly372Ser) http://identifiers.org/clinvar/166982 ^@ NM_001918.3(DBT):c.1024C>T (p.His342Tyr) http://identifiers.org/clinvar/166684 ^@ NM_000036.2(AMPD1):c.323G>A (p.Arg108His) http://identifiers.org/clinvar/167673 ^@ NM_001193301.1(SEMA4A):c.1196A>T (p.Asp399Val) http://identifiers.org/clinvar/166959 ^@ NM_201253.2(CRB1):c.3166G>T (p.Asp1056Tyr) http://identifiers.org/clinvar/166653 ^@ NM_001100.3(ACTA1):c.220G>C (p.Glu74Gln) http://identifiers.org/clinvar/167120 ^@ NM_001008216.1(GALE):c.898C>T (p.Arg300Trp) http://identifiers.org/clinvar/167126 ^@ NM_001008216.1(GALE):c.97G>A (p.Asp33Asn) http://identifiers.org/clinvar/167068 ^@ NM_000143.3(FH):c.695G>A (p.Gly232Glu) http://identifiers.org/clinvar/167526 ^@ NM_001243766.1(POMGNT1):c.1490G>A (p.Arg497Gln) http://identifiers.org/clinvar/166955 ^@ NM_000098.2(CPT2):c.1634A>C (p.Glu545Ala) http://identifiers.org/clinvar/167377 ^@ NM_000272.3(NPHP1):c.232T>C (p.Tyr78His) http://identifiers.org/clinvar/167854 ^@ NM_014795.3(ZEB2):c.1876G>T (p.Gly626Ter) http://identifiers.org/clinvar/167263 ^@ NM_018328.4(MBD5):c.2314A>C (p.Asn772His) http://identifiers.org/clinvar/167330 ^@ NM_004543.4(NEB):c.13427G>A (p.Arg4476His) http://identifiers.org/clinvar/167342 ^@ NM_001271208.1(NEB):c.1211C>T (p.Thr404Ile) http://identifiers.org/clinvar/167658 ^@ NM_002977.3(SCN9A):c.3370C>T (p.Pro1124Ser) http://identifiers.org/clinvar/167759 ^@ NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) http://identifiers.org/clinvar/167766 ^@ NM_001256850.1(TTN):c.75631C>T (p.Arg25211Cys) http://identifiers.org/clinvar/167777 ^@ NM_001267550.2(TTN):c.56524T>C (p.Cys18842Arg) http://identifiers.org/clinvar/167783 ^@ NM_001267550.2(TTN):c.46780T>C (p.Tyr15594His) http://identifiers.org/clinvar/167790 ^@ NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) http://identifiers.org/clinvar/167802 ^@ NM_001267550.2(TTN):c.15464A>G (p.Lys5155Arg) http://identifiers.org/clinvar/166843 ^@ NM_201548.4(CERKL):c.1523C>T (p.Ser508Leu) http://identifiers.org/clinvar/167845 ^@ NM_001006657.1(WDR35):c.2918T>G (p.Leu973Arg) http://identifiers.org/clinvar/166936 ^@ NM_004369.3(COL6A3):c.8735C>T (p.Pro2912Leu) http://identifiers.org/clinvar/166945 ^@ NM_004369.3(COL6A3):c.3287G>A (p.Arg1096His) http://identifiers.org/clinvar/166760 ^@ NM_001029883.2(C2orf71):c.2600C>T (p.Pro867Leu) http://identifiers.org/clinvar/167388 ^@ NM_001135659.2(NRXN1):c.2033A>G (p.Tyr678Cys) http://identifiers.org/clinvar/167057 ^@ NM_001201543.1(FAM161A):c.1441G>A (p.Glu481Lys) http://identifiers.org/clinvar/167019 ^@ NM_003494.3(DYSF):c.2588A>C (p.Asp863Ala) http://identifiers.org/clinvar/167029 ^@ NM_003494.3(DYSF):c.5366T>C (p.Leu1789Pro) http://identifiers.org/clinvar/167197 ^@ NM_001023570.3(IQCB1):c.1090C>T (p.Arg364Ter) http://identifiers.org/clinvar/166806 ^@ NM_181426.1(CCDC39):c.1073C>T (p.Thr358Ile) http://identifiers.org/clinvar/166676 ^@ NM_005787.5(ALG3):c.1271C>T (p.Pro424Leu) http://identifiers.org/clinvar/167094 ^@ NM_032682.5(FOXP1):c.1328A>G (p.Tyr443Cys) http://identifiers.org/clinvar/166739 ^@ NM_176824.2(BBS7):c.280A>T (p.Thr94Ser) http://identifiers.org/clinvar/167040 ^@ NM_004453.3(ETFDH):c.79C>T (p.Pro27Ser) http://identifiers.org/clinvar/167843 ^@ NM_025132.3(WDR19):c.2792A>C (p.Tyr931Ser) http://identifiers.org/clinvar/167850 ^@ NM_006005.3(WFS1):c.917T>C (p.Met306Thr) http://identifiers.org/clinvar/167319 ^@ NM_006790.2(MYOT):c.1439A>G (p.Glu480Gly) http://identifiers.org/clinvar/167431 ^@ NM_000440.2(PDE6A):c.1705C>A (p.Gln569Lys) http://identifiers.org/clinvar/167393 ^@ NM_022455.4(NSD1):c.3355C>G (p.Pro1119Ala) http://identifiers.org/clinvar/167348 ^@ NM_015384.4(NIPBL):c.697A>G (p.Asn233Asp) http://identifiers.org/clinvar/167166 ^@ NM_021072.3(HCN1):c.2428G>C (p.Glu810Gln) http://identifiers.org/clinvar/167279 ^@ NM_022132.4(MCCC2):c.994C>T (p.Arg332Ter) http://identifiers.org/clinvar/166694 ^@ NM_000046.3(ARSB):c.944G>A (p.Arg315Gln) http://identifiers.org/clinvar/167238 ^@ NM_000426.3(LAMA2):c.623C>A (p.Pro208His) http://identifiers.org/clinvar/167248 ^@ NM_000426.3(LAMA2):c.8126G>A (p.Arg2709His) http://identifiers.org/clinvar/167084 ^@ NM_001453.2(FOXC1):c.263C>T (p.Thr88Ile) http://identifiers.org/clinvar/167310 ^@ NM_000255.3(MUT):c.1207C>T (p.Arg403Ter) http://identifiers.org/clinvar/167479 ^@ NM_138694.3(PKHD1):c.9415G>T (p.Asp3139Tyr) http://identifiers.org/clinvar/167489 ^@ NM_138694.3(PKHD1):c.3407A>G (p.Tyr1136Cys) http://identifiers.org/clinvar/167493 ^@ NM_138694.3(PKHD1):c.2050C>A (p.Leu684Met) http://identifiers.org/clinvar/167497 ^@ NM_138694.3(PKHD1):c.1288C>A (p.Gln430Lys) http://identifiers.org/clinvar/167047 ^@ NM_001142800.1(EYS):c.6475C>T (p.Pro2159Ser) http://identifiers.org/clinvar/167051 ^@ NM_001142800.1(EYS):c.4985A>T (p.Asp1662Val) http://identifiers.org/clinvar/167255 ^@ NM_181714.3(LCA5):c.1967G>A (p.Gly656Asp) http://identifiers.org/clinvar/167037 ^@ NM_022726.3(ELOVL4):c.467T>C (p.Phe156Ser) http://identifiers.org/clinvar/167577 ^@ NM_005045.3(RELN):c.8944G>A (p.Asp2982Asn) http://identifiers.org/clinvar/167582 ^@ NM_005045.3(RELN):c.5618C>T (p.Thr1873Ile) http://identifiers.org/clinvar/167100 ^@ NM_148898.3(FOXP2):c.2011A>G (p.Asn671Asp) http://identifiers.org/clinvar/166907 ^@ NM_014141.5(CNTNAP2):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/167533 ^@ NM_016203.3(PRKAG2):c.1304A>G (p.Asn435Ser) http://identifiers.org/clinvar/167609 ^@ NM_203288.1(RP9):c.629A>G (p.Lys210Arg) http://identifiers.org/clinvar/166699 ^@ NM_000048.3(ASL):c.1204G>T (p.Gly402Trp) http://identifiers.org/clinvar/167503 ^@ NM_000445.4(PLEC):c.11518C>T (p.Arg3840Cys) http://identifiers.org/clinvar/167512 ^@ NM_000445.4(PLEC):c.3742G>A (p.Ala1248Thr) http://identifiers.org/clinvar/167603 ^@ NM_006269.1(RP1):c.2716G>A (p.Ala906Thr) http://identifiers.org/clinvar/166878 ^@ NM_017780.3(CHD7):c.7346G>C (p.Arg2449Thr) http://identifiers.org/clinvar/166899 ^@ NM_019098.4(CNGB3):c.2264A>G (p.Glu755Gly) http://identifiers.org/clinvar/167832 ^@ NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter) http://identifiers.org/clinvar/167838 ^@ NM_017890.4(VPS13B):c.11960C>A (p.Pro3987His) http://identifiers.org/clinvar/167005 ^@ NM_014908.3(DOLK):c.1447C>A (p.Gln483Lys) http://identifiers.org/clinvar/167210 ^@ NM_133497.3(KCNV2):c.721C>T (p.Pro241Ser) http://identifiers.org/clinvar/166675 ^@ NM_033087.3(ALG2):c.17G>C (p.Gly6Ala) http://identifiers.org/clinvar/167427 ^@ NM_033056.3(PCDH15):c.4459T>C (p.Ser1487Pro) http://identifiers.org/clinvar/166814 ^@ NM_022124.5(CDH23):c.6169A>G (p.Ile2057Val) http://identifiers.org/clinvar/167013 ^@ NM_001080463.1(DYNC2H1):c.6604A>G (p.Met2202Val) http://identifiers.org/clinvar/167007 ^@ NM_001382.3(DPAGT1):c.994T>G (p.Phe332Val) http://identifiers.org/clinvar/167300 ^@ NM_031433.3(MFRP):c.163C>T (p.Arg55Cys) http://identifiers.org/clinvar/166746 ^@ NM_004183.3(BEST1):c.851A>G (p.Tyr284Cys) http://identifiers.org/clinvar/167711 ^@ NM_000543.4(SMPD1):c.836G>A (p.Gly279Glu) http://identifiers.org/clinvar/166952 ^@ NM_001031847.2(CPT1A):c.194T>C (p.Val65Ala) http://identifiers.org/clinvar/167733 ^@ NM_032273.3(TMEM126A):c.385C>G (p.Leu129Val) http://identifiers.org/clinvar/166771 ^@ NM_000719.6(CACNA1C):c.3560G>A (p.Arg1187Gln) http://identifiers.org/clinvar/167222 ^@ NM_003482.3(KMT2D):c.8488C>T (p.Arg2830Ter) http://identifiers.org/clinvar/167232 ^@ NM_003482.3(KMT2D):c.1378C>A (p.Pro460Thr) http://identifiers.org/clinvar/166722 ^@ NM_024685.3(BBS10):c.1264C>T (p.Arg422Trp) http://identifiers.org/clinvar/166833 ^@ NM_025114.3(CEP290):c.5255G>A (p.Arg1752Gln) http://identifiers.org/clinvar/166840 ^@ NM_025114.3(CEP290):c.722A>G (p.Lys241Arg) http://identifiers.org/clinvar/167567 ^@ NM_000321.2(RB1):c.2084T>G (p.Met695Arg) http://identifiers.org/clinvar/167604 ^@ NM_020366.3(RPGRIP1):c.161G>A (p.Arg54His) http://identifiers.org/clinvar/167839 ^@ NM_182894.2(VSX2):c.299C>A (p.Pro100Gln) http://identifiers.org/clinvar/167716 ^@ NM_018418.4(SPATA7):c.1033A>G (p.Met345Val) http://identifiers.org/clinvar/167719 ^@ NM_152594.2(SPRED1):c.229A>T (p.Lys77Ter) http://identifiers.org/clinvar/167260 ^@ NM_002755.3(MAP2K1):c.608A>G (p.Glu203Gly) http://identifiers.org/clinvar/166735 ^@ NM_033028.4(BBS4):c.986C>T (p.Ala329Val) http://identifiers.org/clinvar/167304 ^@ NM_002435.2(MPI):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/167323 ^@ NM_001143979.1(NDE1):c.641C>T (p.Ser214Phe) http://identifiers.org/clinvar/167149 ^@ NM_032575.2(GLIS2):c.1474A>G (p.Thr492Ala) http://identifiers.org/clinvar/166909 ^@ NM_015272.4(RPGRIP1L):c.2240G>A (p.Arg747Gln) http://identifiers.org/clinvar/167127 ^@ NM_000512.4(GALNS):c.281G>A (p.Arg94His) http://identifiers.org/clinvar/167562 ^@ NM_030665.3(RAI1):c.3650G>A (p.Arg1217Gln) http://identifiers.org/clinvar/167677 ^@ NM_000023.3(SGCA):c.739G>A (p.Val247Met) http://identifiers.org/clinvar/167470 ^@ NM_031220.3(PITPNM3):c.1478G>A (p.Arg493Gln) http://identifiers.org/clinvar/166638 ^@ NM_000018.3(ACADVL):c.65C>A (p.Ser22Ter) http://identifiers.org/clinvar/166645 ^@ NM_000018.3(ACADVL):c.1205C>T (p.Ala402Val) http://identifiers.org/clinvar/167752 ^@ NM_207346.2(TSEN54):c.1063C>T (p.His355Tyr) http://identifiers.org/clinvar/167114 ^@ NM_000152.4(GAA):c.2380C>G (p.Arg794Gly) http://identifiers.org/clinvar/167731 ^@ NM_001083962.1(TCF4):c.269A>G (p.Asn90Ser) http://identifiers.org/clinvar/167131 ^@ NM_000156.5(GAMT):c.79T>C (p.Tyr27His) http://identifiers.org/clinvar/167619 ^@ NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) http://identifiers.org/clinvar/167516 ^@ NM_007254.3(PNKP):c.1468A>G (p.Thr490Ala) http://identifiers.org/clinvar/167667 ^@ NM_032985.4(SEC23B):c.1489C>T (p.Arg497Cys) http://identifiers.org/clinvar/167208 ^@ NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met) http://identifiers.org/clinvar/167101 ^@ NM_001320412.1(FTCD):c.1625C>T (p.Pro542Leu) http://identifiers.org/clinvar/166689 ^@ NM_000487.5(ARSA):c.1471T>C (p.Cys491Arg) http://identifiers.org/clinvar/167139 ^@ NM_000169.2(GLA):c.730G>A (p.Asp244Asn) http://identifiers.org/clinvar/167143 ^@ NM_000169.2(GLA):c.400T>G (p.Tyr134Asp) http://identifiers.org/clinvar/166657 ^@ NM_002025.3(AFF2):c.496C>T (p.Pro166Ser) http://identifiers.org/clinvar/166624 ^@ NM_000033.3(ABCD1):c.1201C>G (p.Arg401Gly) http://identifiers.org/clinvar/167077 ^@ NM_001456.3(FLNA):c.7148G>A (p.Arg2383His) http://identifiers.org/clinvar/166822 ^@ NM_003159.2(CDKL5):c.3031G>A (p.Ala1011Thr) http://identifiers.org/clinvar/166784 ^@ NM_004006.2(DMD):c.3532G>T (p.Glu1178Ter) http://identifiers.org/clinvar/166864 ^@ NM_004006.2(DMD):c.883C>T (p.Arg295Ter) http://identifiers.org/clinvar/167409 ^@ NM_000531.5(OTC):c.725C>A (p.Thr242Asn) http://identifiers.org/clinvar/167326 ^@ NM_000266.3(NDP):c.220C>T (p.Arg74Cys) http://identifiers.org/clinvar/166819 ^@ NM_033018.3(CDK16):c.1258C>T (p.Arg420Ter) http://identifiers.org/clinvar/167705 ^@ NM_006306.3(SMC1A):c.1834G>A (p.Ala612Thr) http://identifiers.org/clinvar/167366 ^@ NM_181332.2(NLGN4X):c.1564G>A (p.Val522Met) http://identifiers.org/clinvar/167364 ^@ NM_018977.3(NLGN3):c.1951C>T (p.Arg651Trp) http://identifiers.org/clinvar/166713 ^@ NM_000489.4(ATRX):c.2789G>C (p.Ser930Thr) http://identifiers.org/clinvar/166616 ^@ NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) http://identifiers.org/clinvar/166617 ^@ NM_000350.2(ABCA4):c.1029T>C (p.Asn343=) http://identifiers.org/clinvar/166618 ^@ NM_000350.2(ABCA4):c.141G= (p.Pro47=) http://identifiers.org/clinvar/166620 ^@ NM_001360.2(DHCR7):c.126C>T (p.Ser42=) http://identifiers.org/clinvar/166621 ^@ NM_000350.2(ABCA4):c.5312+8G>A http://identifiers.org/clinvar/166623 ^@ NM_000033.3(ABCD1):c.249C>T (p.Phe83=) http://identifiers.org/clinvar/166627 ^@ NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) http://identifiers.org/clinvar/166629 ^@ NM_032169.4(ACAD11):c.1443G>A (p.Leu481=) http://identifiers.org/clinvar/166630 ^@ NM_032169.4(ACAD11):c.1327G>A (p.Gly443Arg) http://identifiers.org/clinvar/166634 ^@ NM_014049.4(ACAD9):c.347-20C>T http://identifiers.org/clinvar/166635 ^@ NM_014049.4(ACAD9):c.379A>C (p.Arg127=) http://identifiers.org/clinvar/166636 ^@ NM_014049.4(ACAD9):c.1279-7A>G http://identifiers.org/clinvar/166637 ^@ NM_000018.3(ACADVL):c.-63_-49dupGGGCGTGCAGGACGC http://identifiers.org/clinvar/166639 ^@ NM_000018.3(ACADVL):c.129T>A (p.Gly43=) http://identifiers.org/clinvar/166640 ^@ NM_000018.3(ACADVL):c.189A>G (p.Lys63=) http://identifiers.org/clinvar/166642 ^@ NM_000018.3(ACADVL):c.623-8C>T http://identifiers.org/clinvar/166646 ^@ NM_000018.3(ACADVL):c.1532+1G>A http://identifiers.org/clinvar/166648 ^@ NM_000019.3(ACAT1):c.-15C>G http://identifiers.org/clinvar/166649 ^@ NM_000019.3(ACAT1):c.444_445delGG (p.Met148Ilefs) http://identifiers.org/clinvar/166650 ^@ NM_000019.3(ACAT1):c.826+1G>T http://identifiers.org/clinvar/166651 ^@ NM_000019.3(ACAT1):c.941-15_941-14delCC http://identifiers.org/clinvar/166654 ^@ NM_014336.4(AIPL1):c.453C>T (p.Ile151=) http://identifiers.org/clinvar/166655 ^@ NM_014336.4(AIPL1):c.300A>G (p.Leu100=) http://identifiers.org/clinvar/166656 ^@ NM_000026.3(ADSL):c.702-7T>C http://identifiers.org/clinvar/166660 ^@ NM_004006.2(DMD):c.9315_9326delTTATAGGACTGC (p.Tyr3106_Ala3109del) http://identifiers.org/clinvar/166661 ^@ NM_004006.2(DMD):c.9164-1G>C http://identifiers.org/clinvar/166662 ^@ NM_000686.4(AGTR2):c.231G>T (p.Lys77Asn) http://identifiers.org/clinvar/166663 ^@ NM_017651.4(AHI1):c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA http://identifiers.org/clinvar/166667 ^@ NM_004006.2(DMD):c.8810A= (p.Gln2937=) http://identifiers.org/clinvar/166670 ^@ NM_019109.4(ALG1):c.*17_*18dupTA http://identifiers.org/clinvar/166673 ^@ NM_024105.3(ALG12):c.*1G>C http://identifiers.org/clinvar/166674 ^@ NM_024105.3(ALG12):c.645G>A (p.Pro215=) http://identifiers.org/clinvar/166680 ^@ NM_000036.2(AMPD1):c.2010C>T (p.Phe670=) http://identifiers.org/clinvar/166681 ^@ NM_000036.2(AMPD1):c.1944C>T (p.Ile648=) http://identifiers.org/clinvar/166682 ^@ NM_000036.2(AMPD1):c.1563G>A (p.Glu521=) http://identifiers.org/clinvar/166683 ^@ NM_000036.2(AMPD1):c.481-6delT http://identifiers.org/clinvar/166685 ^@ NM_000480.2(AMPD3):c.958G>T (p.Val320Leu) http://identifiers.org/clinvar/166686 ^@ NM_000480.2(AMPD3):c.1530C>T (p.Phe510=) http://identifiers.org/clinvar/166687 ^@ NM_003916.4(AP1S2):c.252T>C (p.His84=) http://identifiers.org/clinvar/166691 ^@ NM_000487.5(ARSA):c.465G>A (p.Gln155=) http://identifiers.org/clinvar/166692 ^@ NM_000487.5(ARSA):c.369_374delCGGCAAinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) http://identifiers.org/clinvar/166693 ^@ NM_000487.5(ARSA):c.225-5C>G http://identifiers.org/clinvar/166695 ^@ NM_139058.2(ARX):c.333_335dupGCC http://identifiers.org/clinvar/166696 ^@ NM_000046.3(ARSB):c.899-10T>G http://identifiers.org/clinvar/166700 ^@ NM_018136.4(ASPM):c.7620A>G (p.Ala2540=) http://identifiers.org/clinvar/166704 ^@ NM_000050.4(ASS1):c.1194-1G>C http://identifiers.org/clinvar/166705 ^@ NM_000702.3(ATP1A2):c.13-11_13-8delTCCT http://identifiers.org/clinvar/166706 ^@ NM_004006.2(DMD):c.7096C= (p.Gln2366=) http://identifiers.org/clinvar/166710 ^@ NM_000489.4(ATRX):c.6753C>T (p.Tyr2251=) http://identifiers.org/clinvar/166714 ^@ NM_000489.4(ATRX):c.2169G>C (p.Glu723Asp) http://identifiers.org/clinvar/166715 ^@ NM_000489.4(ATRX):c.-14G>A http://identifiers.org/clinvar/166716 ^@ NM_194318.3(B3GLCT):c.71-5delT http://identifiers.org/clinvar/166718 ^@ NM_194318.3(B3GLCT):c.1329+6G>T http://identifiers.org/clinvar/166719 ^@ NM_194318.3(B3GLCT):c.1330-5T>C http://identifiers.org/clinvar/166723 ^@ NM_024685.3(BBS10):c.1091delA (p.Asn364Thrfs) http://identifiers.org/clinvar/166726 ^@ NM_152618.2(BBS12):c.1380G>C (p.Val460=) http://identifiers.org/clinvar/166728 ^@ NM_152618.2(BBS12):c.1410C>T (p.Cys470=) http://identifiers.org/clinvar/166729 ^@ NM_001178007.1(BBS12):c.1506C>T (p.Ala502=) http://identifiers.org/clinvar/166730 ^@ NM_152618.2(BBS12):c.1872A>G (p.Gln624=) http://identifiers.org/clinvar/166731 ^@ NM_031885.3(BBS2):c.1110T>C (p.Ala370=) http://identifiers.org/clinvar/166733 ^@ NM_033028.4(BBS4):c.76+19G>T http://identifiers.org/clinvar/166734 ^@ NM_033028.4(BBS4):c.906C= (p.Phe302=) http://identifiers.org/clinvar/166737 ^@ NM_176824.2(BBS7):c.1512-7A>T http://identifiers.org/clinvar/166741 ^@ NM_000709.3(BCKDHA):c.117dupC (p.Arg40Glnfs) http://identifiers.org/clinvar/166742 ^@ NM_000709.3(BCKDHA):c.1251C>T (p.Pro417=) http://identifiers.org/clinvar/166744 ^@ NM_005881.3(BCKDK):c.716+10G>C http://identifiers.org/clinvar/166745 ^@ NM_005881.3(BCKDK):c.846-3T>A http://identifiers.org/clinvar/166748 ^@ NM_001123383.1(BCOR):c.3052-14C>T http://identifiers.org/clinvar/166749 ^@ NM_017745.5(BCOR):c.2514C>A (p.Pro838=) http://identifiers.org/clinvar/166751 ^@ NM_001123383.1(BCOR):c.711C>T (p.Val237=) http://identifiers.org/clinvar/166752 ^@ NM_004183.3(BEST1):c.618G>A (p.Leu206=) http://identifiers.org/clinvar/166753 ^@ NM_004183.3(BEST1):c.715-12_715-4dupTCCTCCTCC http://identifiers.org/clinvar/166755 ^@ NM_021098.2(CACNA1H):c.1107T>C (p.Ile369=) http://identifiers.org/clinvar/166756 ^@ NM_004006.2(DMD):c.5363C>G (p.Ser1788Ter) http://identifiers.org/clinvar/166757 ^@ NM_004006.2(DMD):c.5010G>T (p.Trp1670Cys) http://identifiers.org/clinvar/166758 ^@ NM_001029883.2(C2orf71):c.3789G>A (p.Leu1263=) http://identifiers.org/clinvar/166761 ^@ NM_001029883.2(C2orf71):c.2418C>T (p.Pro806=) http://identifiers.org/clinvar/166762 ^@ NM_145200.3(CABP4):c.192C>T (p.Pro64=) http://identifiers.org/clinvar/166763 ^@ NM_004006.2(DMD):c.4806A>T (p.Gly1602=) http://identifiers.org/clinvar/166766 ^@ NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) http://identifiers.org/clinvar/166767 ^@ NM_000719.6(CACNA1C):c.1176G>T (p.Gly392=) http://identifiers.org/clinvar/166768 ^@ NM_000719.6(CACNA1C):c.1218-6C>T http://identifiers.org/clinvar/166769 ^@ NM_000719.6(CACNA1C):c.3049-10C>T http://identifiers.org/clinvar/166772 ^@ NM_000719.6(CACNA1C):c.4140+4G>A http://identifiers.org/clinvar/166774 ^@ NM_000719.6(CACNA1C):c.5106G>A (p.Leu1702=) http://identifiers.org/clinvar/166775 ^@ NM_005183.3(CACNA1F):c.5286G>C (p.Gln1762His) http://identifiers.org/clinvar/166777 ^@ NM_005183.3(CACNA1F):c.3963C>A (p.Ile1321=) http://identifiers.org/clinvar/166778 ^@ NM_005183.3(CACNA1F):c.2706+3G>A http://identifiers.org/clinvar/166779 ^@ NM_005183.3(CACNA1F):c.2442_2444dupGGA (p.Glu825_Gly826insGlu) http://identifiers.org/clinvar/166782 ^@ NM_172364.4(CACNA2D4):c.2187C>T (p.Asp729=) http://identifiers.org/clinvar/166783 ^@ NM_172364.4(CACNA2D4):c.2046C>G (p.Ala682=) http://identifiers.org/clinvar/166785 ^@ NM_000070.2(CAPN3):c.495C>T (p.Phe165=) http://identifiers.org/clinvar/166786 ^@ NM_000070.2(CAPN3):c.598_612delTTCTGGAGTGCTCTG (p.Phe200_Leu204del) http://identifiers.org/clinvar/166787 ^@ NM_000070.2(CAPN3):c.984C>T (p.Cys328=) http://identifiers.org/clinvar/166788 ^@ NM_000070.2(CAPN3):c.1116-5A>G http://identifiers.org/clinvar/166792 ^@ NM_000070.2(CAPN3):c.2380+12delA http://identifiers.org/clinvar/166793 ^@ NM_000070.2(CAPN3):c.2433T>C (p.Val811=) http://identifiers.org/clinvar/166795 ^@ NM_003688.3(CASK):c.891A>G (p.Lys297=) http://identifiers.org/clinvar/166796 ^@ NM_003688.3(CASK):c.55G>A (p.Gly19Arg) http://identifiers.org/clinvar/166798 ^@ NM_000388.3(CASR):c.2244C= (p.Pro748=) http://identifiers.org/clinvar/166799 ^@ NM_000388.3(CASR):c.3031C= (p.Gln1011=) http://identifiers.org/clinvar/166800 ^@ NM_000071.2(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Glu283Lysfs) http://identifiers.org/clinvar/166801 ^@ NM_001080522.2(CC2D2A):c.1017+1G>A http://identifiers.org/clinvar/166802 ^@ NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) http://identifiers.org/clinvar/166803 ^@ NM_001080522.2(CC2D2A):c.2475C>T (p.Ile825=) http://identifiers.org/clinvar/166805 ^@ NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) http://identifiers.org/clinvar/166809 ^@ NM_022124.5(CDH23):c.2940G>A (p.Thr980=) http://identifiers.org/clinvar/166813 ^@ NM_022124.5(CDH23):c.4209+1G>T http://identifiers.org/clinvar/166818 ^@ NM_033018.3(CDK16):c.811-5C>T http://identifiers.org/clinvar/166820 ^@ NM_003159.2(CDKL5):c.2265A>T (p.Ala755=) http://identifiers.org/clinvar/166821 ^@ NM_003159.2(CDKL5):c.2388C>T (p.Ser796=) http://identifiers.org/clinvar/166825 ^@ NM_018451.4(CENPJ):c.2992-18G>T http://identifiers.org/clinvar/166826 ^@ NM_018451.4(CENPJ):c.1291C>T (p.Leu431=) http://identifiers.org/clinvar/166828 ^@ NM_025114.3(CEP290):c.6522+12dupT http://identifiers.org/clinvar/166830 ^@ NM_025114.3(CEP290):c.5859C>T (p.Ala1953=) http://identifiers.org/clinvar/166831 ^@ NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) http://identifiers.org/clinvar/166834 ^@ NM_025114.3(CEP290):c.5055G>A (p.Ala1685=) http://identifiers.org/clinvar/166837 ^@ NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs) http://identifiers.org/clinvar/166839 ^@ NM_025114.3(CEP290):c.853-12_853-11insG http://identifiers.org/clinvar/166842 ^@ NM_004006.2(DMD):c.2645G= (p.Gly882=) http://identifiers.org/clinvar/166844 ^@ NM_001030311.2(CERKL):c.1584C>T (p.Asp528=) http://identifiers.org/clinvar/166846 ^@ NM_001030311.2(CERKL):c.974-18T>A http://identifiers.org/clinvar/166848 ^@ NM_001030311.2(CERKL):c.239-12T>A http://identifiers.org/clinvar/166849 ^@ NM_001030311.2(CERKL):c.156C>T (p.Phe52=) http://identifiers.org/clinvar/166850 ^@ NM_001030311.2(CERKL):c.132G>C (p.Glu44Asp) http://identifiers.org/clinvar/166851 ^@ NM_001030311.2(CERKL):c.60G>A (p.Glu20=) http://identifiers.org/clinvar/166854 ^@ NM_004006.2(DMD):c.2484T>G (p.Tyr828Ter) http://identifiers.org/clinvar/166855 ^@ NM_017780.3(CHD7):c.768C>T (p.Phe256=) http://identifiers.org/clinvar/166856 ^@ NM_004006.2(DMD):c.2199C>T (p.Ser733=) http://identifiers.org/clinvar/166859 ^@ NM_017780.3(CHD7):c.1698A>G (p.Pro566=) http://identifiers.org/clinvar/166861 ^@ NM_017780.3(CHD7):c.2377-3dupT http://identifiers.org/clinvar/166862 ^@ NM_017780.3(CHD7):c.2933G>A (p.Trp978Ter) http://identifiers.org/clinvar/166863 ^@ NM_004006.2(DMD):c.1252A>T (p.Thr418Ser) http://identifiers.org/clinvar/166865 ^@ NM_004006.2(DMD):c.618A>G (p.Gln206=) http://identifiers.org/clinvar/166866 ^@ NM_017780.3(CHD7):c.4534-20C>T http://identifiers.org/clinvar/166868 ^@ NM_017780.3(CHD7):c.5439C>T (p.Pro1813=) http://identifiers.org/clinvar/166869 ^@ NM_017780.3(CHD7):c.5697C>G (p.Gly1899=) http://identifiers.org/clinvar/166871 ^@ NM_004187.3(KDM5C):c.1764G>A (p.Gln588=) http://identifiers.org/clinvar/166872 ^@ NM_004187.3(KDM5C):c.25C>T (p.Leu9=) http://identifiers.org/clinvar/166873 ^@ NM_017780.3(CHD7):c.7145dupC (p.Ser2383Valfs) http://identifiers.org/clinvar/166875 ^@ NM_005120.2(MED12):c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) http://identifiers.org/clinvar/166876 ^@ NM_005120.2(MED12):c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) http://identifiers.org/clinvar/166877 ^@ NM_005120.2(MED12):c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) http://identifiers.org/clinvar/166879 ^@ NM_017780.3(CHD7):c.8190G>A (p.Ala2730=) http://identifiers.org/clinvar/166881 ^@ NM_000742.3(CHRNA2):c.873C>T (p.Ser291=) http://identifiers.org/clinvar/166882 ^@ NM_000742.3(CHRNA2):c.576C>T (p.Phe192=) http://identifiers.org/clinvar/166883 ^@ NM_000744.6(CHRNA4):c.1842G>A (p.Thr614=) http://identifiers.org/clinvar/166885 ^@ NM_001142564.1(CNGA1):c.579C>T (p.Asn193=) http://identifiers.org/clinvar/166886 ^@ NM_015384.4(NIPBL):c.6057C>T (p.Leu2019=) http://identifiers.org/clinvar/166887 ^@ NM_015384.4(NIPBL):c.6312A>G (p.Lys2104=) http://identifiers.org/clinvar/166890 ^@ NM_181332.2(NLGN4X):c.516C>T (p.Ile172=) http://identifiers.org/clinvar/166893 ^@ NM_015102.4(NPHP4):c.1442-7C>T http://identifiers.org/clinvar/166894 ^@ NM_001297.4(CNGB1):c.2664C>G (p.Ala888=) http://identifiers.org/clinvar/166895 ^@ NM_001297.4(CNGB1):c.2635-10C>T http://identifiers.org/clinvar/166897 ^@ NM_007171.3(POMT1):c.1554C>T (p.Ser518=) http://identifiers.org/clinvar/166898 ^@ NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) http://identifiers.org/clinvar/166900 ^@ NM_007171.3(POMT1):c.1764C>T (p.Ser588=) http://identifiers.org/clinvar/166901 ^@ NM_013382.5(POMT2):c.1911G= (p.Leu637=) http://identifiers.org/clinvar/166902 ^@ NM_013382.5(POMT2):c.1726-2A>G http://identifiers.org/clinvar/166903 ^@ NM_019098.4(CNGB3):c.2214A>G (p.Glu738=) http://identifiers.org/clinvar/166904 ^@ NM_013382.5(POMT2):c.1683T>C (p.Asn561=) http://identifiers.org/clinvar/166906 ^@ NM_013382.5(POMT2):c.1383A= (p.Arg461=) http://identifiers.org/clinvar/166910 ^@ NM_014141.5(CNTNAP2):c.1311C>T (p.Ile437=) http://identifiers.org/clinvar/166913 ^@ NM_014141.5(CNTNAP2):c.3402G>A (p.Val1134=) http://identifiers.org/clinvar/166915 ^@ NM_018714.2(COG1):c.743-10C>G http://identifiers.org/clinvar/166917 ^@ NM_001127897.3(RPGRIP1L):c.1401+4A>G http://identifiers.org/clinvar/166918 ^@ NM_006348.3(COG5):c.108C>G (p.Gly36=) http://identifiers.org/clinvar/166920 ^@ NM_001145079.1(COG6):c.1826+23554T>C http://identifiers.org/clinvar/166921 ^@ NM_001854.3(COL11A1):c.4140+10A>T http://identifiers.org/clinvar/166922 ^@ NM_001854.3(COL11A1):c.4032G>A (p.Pro1344=) http://identifiers.org/clinvar/166923 ^@ NM_080629.2(COL11A1):c.3745-1G>A http://identifiers.org/clinvar/166924 ^@ NM_001854.3(COL11A1):c.1792-12_1792-10dupATG http://identifiers.org/clinvar/166925 ^@ NM_001854.3(COL11A1):c.1792-18_1792-10dupATGATGATG http://identifiers.org/clinvar/166926 ^@ NM_001844.4(COL2A1):c.2334C>T (p.Ala778=) http://identifiers.org/clinvar/166927 ^@ NM_001844.4(COL2A1):c.85+1G>C http://identifiers.org/clinvar/166928 ^@ NM_001848.2(COL6A1):c.1335+20G>C http://identifiers.org/clinvar/166929 ^@ NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) http://identifiers.org/clinvar/166930 ^@ NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) http://identifiers.org/clinvar/166932 ^@ NM_001849.3(COL6A2):c.1761C>T (p.Pro587=) http://identifiers.org/clinvar/166933 ^@ NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) http://identifiers.org/clinvar/166937 ^@ NM_004369.3(COL6A3):c.7401G>A (p.Ser2467=) http://identifiers.org/clinvar/166940 ^@ NM_004369.3(COL6A3):c.6157-4T>G http://identifiers.org/clinvar/166941 ^@ NM_004369.3(COL6A3):c.5910C>T (p.Arg1970=) http://identifiers.org/clinvar/166942 ^@ NM_004369.3(COL6A3):c.5619C>T (p.His1873=) http://identifiers.org/clinvar/166944 ^@ NM_004369.3(COL6A3):c.3982C>T (p.Leu1328=) http://identifiers.org/clinvar/166946 ^@ NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) http://identifiers.org/clinvar/166947 ^@ NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) http://identifiers.org/clinvar/166949 ^@ NM_001851.4(COL9A1):c.2271G>A (p.Pro757=) http://identifiers.org/clinvar/166951 ^@ NM_001031847.2(CPT1A):c.1251C= (p.Phe417=) http://identifiers.org/clinvar/166956 ^@ NM_201253.2(CRB1):c.1410G= (p.Leu470=) http://identifiers.org/clinvar/166957 ^@ NM_201253.2(CRB1):c.1533C>T (p.Ala511=) http://identifiers.org/clinvar/166960 ^@ NM_004380.2(CREBBP):c.7302G>A (p.Thr2434=) http://identifiers.org/clinvar/166961 ^@ NM_004380.2(CREBBP):c.6621_6629delACAACAGCA (p.Gln2214_Gln2216del) http://identifiers.org/clinvar/166962 ^@ NM_004380.2(CREBBP):c.4617T>C (p.Tyr1539=) http://identifiers.org/clinvar/166963 ^@ NM_004380.2(CREBBP):c.2850G>A (p.Thr950=) http://identifiers.org/clinvar/166964 ^@ NM_004380.2(CREBBP):c.2526G>A (p.Gln842=) http://identifiers.org/clinvar/166967 ^@ NM_004380.2(CREBBP):c.252A>G (p.Pro84=) http://identifiers.org/clinvar/166968 ^@ NM_000554.5(CRX):c.101-3delC http://identifiers.org/clinvar/166970 ^@ NM_000104.3(CYP1B1):c.1347T>C (p.Asp449=) http://identifiers.org/clinvar/166971 ^@ NM_000104.3(CYP1B1):c.1294C= (p.Leu432=) http://identifiers.org/clinvar/166972 ^@ NM_000104.3(CYP1B1):c.729G>C (p.Val243=) http://identifiers.org/clinvar/166973 ^@ NM_000104.3(CYP1B1):c.564C>A (p.Gly188=) http://identifiers.org/clinvar/166974 ^@ NM_000104.3(CYP1B1):c.-1-12C>T http://identifiers.org/clinvar/166975 ^@ NM_207352.3(CYP4V2):c.802-7C>T http://identifiers.org/clinvar/166976 ^@ NM_207352.3(CYP4V2):c.810T>G (p.Ala270=) http://identifiers.org/clinvar/166977 ^@ NM_207352.3(CYP4V2):c.846T>C (p.Cys282=) http://identifiers.org/clinvar/166979 ^@ NM_207352.3(CYP4V2):c.1479C>T (p.Asn493=) http://identifiers.org/clinvar/166980 ^@ NM_207352.3(CYP4V2):c.*4T>C http://identifiers.org/clinvar/166981 ^@ NM_001918.3(DBT):c.1210-4delA http://identifiers.org/clinvar/166983 ^@ NM_001918.3(DBT):c.434-15_434-4delTTACCTTGTTAC http://identifiers.org/clinvar/166985 ^@ NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) http://identifiers.org/clinvar/166986 ^@ NM_001360.2(DHCR7):c.1008C>T (p.His336=) http://identifiers.org/clinvar/166987 ^@ NM_001360.2(DHCR7):c.522C>T (p.Phe174=) http://identifiers.org/clinvar/166993 ^@ NM_001927.3(DES):c.237G>A (p.Thr79=) http://identifiers.org/clinvar/166994 ^@ NM_001363.4(DKC1):c.369T= (p.Thr123=) http://identifiers.org/clinvar/166995 ^@ NM_001363.4(DKC1):c.*6G>A http://identifiers.org/clinvar/166996 ^@ NM_021120.3(DLG3):c.2280T>G (p.Tyr760Ter) http://identifiers.org/clinvar/166997 ^@ NM_178452.5(DNAAF1):c.546C>G (p.Asn182Lys) http://identifiers.org/clinvar/166999 ^@ NM_001277115.1(DNAH11):c.5622-7C>A http://identifiers.org/clinvar/167006 ^@ NM_014908.3(DOLK):c.1dupA (p.Met1Asnfs) http://identifiers.org/clinvar/167009 ^@ NM_001080463.1(DYNC2H1):c.5304T>C (p.His1768=) http://identifiers.org/clinvar/167011 ^@ NM_001080463.1(DYNC2H1):c.5718C>A (p.Thr1906=) http://identifiers.org/clinvar/167015 ^@ NM_001080463.1(DYNC2H1):c.8947-1G>T http://identifiers.org/clinvar/167017 ^@ NM_003494.3(DYSF):c.1038T>C (p.Pro346=) http://identifiers.org/clinvar/167018 ^@ NM_003494.3(DYSF):c.2280C>T (p.Leu760=) http://identifiers.org/clinvar/167021 ^@ NM_003494.3(DYSF):c.2790G>C (p.Trp930Cys) http://identifiers.org/clinvar/167022 ^@ NM_003494.3(DYSF):c.3213C>T (p.Tyr1071=) http://identifiers.org/clinvar/167024 ^@ NM_003494.3(DYSF):c.3702T>C (p.Tyr1234=) http://identifiers.org/clinvar/167027 ^@ NM_003494.3(DYSF):c.5334C>T (p.Ile1778=) http://identifiers.org/clinvar/167028 ^@ NM_003494.3(DYSF):c.5341-17G>A http://identifiers.org/clinvar/167030 ^@ NM_003494.3(DYSF):c.5525+1G>A http://identifiers.org/clinvar/167031 ^@ NM_001039348.2(EFEMP1):c.518-13A>G http://identifiers.org/clinvar/167034 ^@ NM_024757.4(EHMT1):c.480C>T (p.Gly160=) http://identifiers.org/clinvar/167035 ^@ NM_024757.4(EHMT1):c.2040G>A (p.Ser680=) http://identifiers.org/clinvar/167036 ^@ NM_015636.3(EIF2B4):c.1369+13A>C http://identifiers.org/clinvar/167041 ^@ NM_004453.3(ETFDH):c.381C>T (p.Leu127=) http://identifiers.org/clinvar/167042 ^@ NM_004453.3(ETFDH):c.1570_1571delCT (p.Leu524Glufs) http://identifiers.org/clinvar/167043 ^@ NM_153717.2(EVC):c.1320T>A (p.Phe440Leu) http://identifiers.org/clinvar/167046 ^@ NM_001142800.1(EYS):c.9030A>G (p.Ala3010=) http://identifiers.org/clinvar/167053 ^@ NM_000137.2(FAH):c.696C>A (p.Asn232Lys) http://identifiers.org/clinvar/167054 ^@ NM_000137.2(FAH):c.1056C>T (p.Ser352=) http://identifiers.org/clinvar/167055 ^@ NM_000137.2(FAH):c.1209C>T (p.Ile403=) http://identifiers.org/clinvar/167060 ^@ NM_001018113.2(FANCB):c.1105-6_1105-3dupTATT http://identifiers.org/clinvar/167062 ^@ NM_004463.2(FGD1):c.2568C>T (p.Tyr856=) http://identifiers.org/clinvar/167063 ^@ NM_004463.2(FGD1):c.482-10G>A http://identifiers.org/clinvar/167067 ^@ NM_000143.3(FH):c.737delA (p.Gln246Argfs) http://identifiers.org/clinvar/167070 ^@ NM_001079802.1(FKTN):c.1159G>A (p.Gly387Arg) http://identifiers.org/clinvar/167073 ^@ NM_144997.5(FLCN):c.1538+14T>G http://identifiers.org/clinvar/167074 ^@ NM_001110556.1(FLNA):c.7757-1G>C http://identifiers.org/clinvar/167075 ^@ NM_001456.3(FLNA):c.7732+8A>G http://identifiers.org/clinvar/167076 ^@ NM_001456.3(FLNA):c.7529-18A>G http://identifiers.org/clinvar/167079 ^@ NM_001110556.1(FLNA):c.6291G>A (p.Leu2097=) http://identifiers.org/clinvar/167080 ^@ NM_001456.3(FLNA):c.4777_4778dupAA (p.Thr1594Argfs) http://identifiers.org/clinvar/167081 ^@ NM_001456.3(FLNA):c.4179G>A (p.Glu1393=) http://identifiers.org/clinvar/167082 ^@ NM_002024.5(FMR1):c.420-11dupT http://identifiers.org/clinvar/167083 ^@ NM_016725.2(FOLR1):c.261C>T (p.Asn87=) http://identifiers.org/clinvar/167085 ^@ NM_001453.2(FOXC1):c.405C>T (p.Cys135=) http://identifiers.org/clinvar/167086 ^@ NM_001453.2(FOXC1):c.502C>T (p.Leu168=) http://identifiers.org/clinvar/167087 ^@ NM_001453.2(FOXC1):c.1563T>G (p.Ser521=) http://identifiers.org/clinvar/167088 ^@ NM_004473.3(FOXE1):c.846G>A (p.Ala282=) http://identifiers.org/clinvar/167090 ^@ NM_005249.4(FOXG1):c.234_236dupGCC (p.Pro80_Ala81insPro) http://identifiers.org/clinvar/167091 ^@ NM_005249.4(FOXG1):c.648_655delTTACTACC (p.Tyr217Argfs) http://identifiers.org/clinvar/167093 ^@ NM_032682.5(FOXP1):c.1383C>T (p.Asn461=) http://identifiers.org/clinvar/167095 ^@ NM_032682.5(FOXP1):c.1146+10_1146+12delGAT http://identifiers.org/clinvar/167096 ^@ NM_014491.3(FOXP2):c.678dupA (p.Leu227Thrfs) http://identifiers.org/clinvar/167097 ^@ NM_014491.3(FOXP2):c.741C>T (p.Gly247=) http://identifiers.org/clinvar/167099 ^@ NM_014491.3(FOXP2):c.1770-4dupT http://identifiers.org/clinvar/167103 ^@ NM_014728.3(FRMPD4):c.3937C>A (p.Arg1313=) http://identifiers.org/clinvar/167104 ^@ NM_001077182.2(FSCN2):c.150C>G (p.Pro50=) http://identifiers.org/clinvar/167105 ^@ NM_001077182.2(FSCN2):c.333C>T (p.Phe111=) http://identifiers.org/clinvar/167107 ^@ NM_001077182.2(FSCN2):c.732G>A (p.Thr244=) http://identifiers.org/clinvar/167108 ^@ NM_001077182.2(FSCN2):c.984-7C>T http://identifiers.org/clinvar/167110 ^@ NM_000152.4(GAA):c.858+17_858+23dupCGGGCGG http://identifiers.org/clinvar/167111 ^@ NM_000152.4(GAA):c.858+30T>C http://identifiers.org/clinvar/167115 ^@ NM_000152.4(GAA):c.2400C>T (p.Ser800=) http://identifiers.org/clinvar/167117 ^@ NM_000816.3(GABRG2):c.1113_1115delAAA (p.Lys374del) http://identifiers.org/clinvar/167118 ^@ NM_000153.3(GALC):c.1620G= (p.Thr540=) http://identifiers.org/clinvar/167121 ^@ NM_001008216.1(GALE):c.709+18G>A http://identifiers.org/clinvar/167124 ^@ NM_001008216.1(GALE):c.408C>A (p.Tyr136Ter) http://identifiers.org/clinvar/167128 ^@ NM_000155.3(GALT):c.445dupG (p.Ala149Glyfs) http://identifiers.org/clinvar/167129 ^@ NM_000155.3(GALT):c.508-12C>G http://identifiers.org/clinvar/167130 ^@ NM_000155.3(GALT):c.864C>A (p.Asn288Lys) http://identifiers.org/clinvar/167132 ^@ NM_001005741.2(GBA):c.680_681delATinsGG (p.Asn227Arg) http://identifiers.org/clinvar/167134 ^@ NM_004004.5(GJB2):c.250G>T (p.Val84Leu) http://identifiers.org/clinvar/167136 ^@ NM_000169.2(GLA):c.1023A>C (p.Glu341Asp) http://identifiers.org/clinvar/167137 ^@ NM_000169.2(GLA):c.802-3_802-2delCA http://identifiers.org/clinvar/167138 ^@ NM_000169.2(GLA):c.802-2A>G http://identifiers.org/clinvar/167144 ^@ NM_000169.2(GLA):c.128delG (p.Gly43Alafs) http://identifiers.org/clinvar/167145 ^@ NM_000404.3(GLB1):c.1561C= (p.Arg521=) http://identifiers.org/clinvar/167146 ^@ NM_000404.3(GLB1):c.1077delA (p.Val360Tyrfs) http://identifiers.org/clinvar/167147 ^@ NM_000404.3(GLB1):c.1071T>G (p.Phe357Leu) http://identifiers.org/clinvar/167152 ^@ NM_000405.4(GM2A):c.582A>G (p.Ter194=) http://identifiers.org/clinvar/167154 ^@ NM_024312.4(GNPTAB):c.27G>A (p.Gln9=) http://identifiers.org/clinvar/167155 ^@ NM_005682.6(ADGRG1):c.1596G>A (p.Thr532=) http://identifiers.org/clinvar/167156 ^@ NM_032119.3(ADGRV1):c.5295C>G (p.Phe1765Leu) http://identifiers.org/clinvar/167157 ^@ NM_000828.4(GRIA3):c.-2G= http://identifiers.org/clinvar/167159 ^@ NM_018094.4(GSPT2):c.1158C>T (p.His386=) http://identifiers.org/clinvar/167160 ^@ NM_000409.4(GUCA1A):c.142C>T (p.Leu48=) http://identifiers.org/clinvar/167162 ^@ NM_005327.4(HADH):c.257C= (p.Pro86=) http://identifiers.org/clinvar/167163 ^@ NM_001122608.2(HCCS):c.216G>C (p.Ala72=) http://identifiers.org/clinvar/167164 ^@ NM_005334.2(HCFC1):c.6042C>T (p.Asn2014=) http://identifiers.org/clinvar/167165 ^@ NM_005334.2(HCFC1):c.4545G>A (p.Pro1515=) http://identifiers.org/clinvar/167167 ^@ NM_021072.3(HCN1):c.1797A>G (p.Ser599=) http://identifiers.org/clinvar/167169 ^@ NM_005477.2(HCN4):c.3288C>T (p.Asp1096=) http://identifiers.org/clinvar/167170 ^@ NM_005477.2(HCN4):c.2739G>A (p.Ala913=) http://identifiers.org/clinvar/167172 ^@ NM_005477.2(HCN4):c.621C>G (p.Arg207=) http://identifiers.org/clinvar/167173 ^@ NM_000521.3(HEXB):c.185C= (p.Ser62=) http://identifiers.org/clinvar/167174 ^@ NM_000521.3(HEXB):c.771+5G>C http://identifiers.org/clinvar/167179 ^@ NM_031935.2(HMCN1):c.114G>T (p.Gly38=) http://identifiers.org/clinvar/167181 ^@ NM_000194.2(HPRT1):c.212dupG (p.Tyr72Leufs) http://identifiers.org/clinvar/167182 ^@ NM_000194.2(HPRT1):c.532+2T>G http://identifiers.org/clinvar/167183 ^@ NM_000195.4(HPS1):c.1683C>T (p.Cys561=) http://identifiers.org/clinvar/167186 ^@ NM_000195.4(HPS1):c.597C>T (p.Pro199=) http://identifiers.org/clinvar/167188 ^@ NM_000202.7(IDS):c.1148delC (p.Pro383Leufs) http://identifiers.org/clinvar/167189 ^@ NM_000203.4(IDUA):c.164delC (p.Pro55Argfs) http://identifiers.org/clinvar/167191 ^@ NM_000203.4(IDUA):c.1614delG (p.His539Thrfs) http://identifiers.org/clinvar/167192 ^@ NM_000883.3(IMPDH1):c.1386G>A (p.Leu462=) http://identifiers.org/clinvar/167194 ^@ NM_014425.4(INVS):c.102C>T (p.Ile34=) http://identifiers.org/clinvar/167198 ^@ NM_001023570.3(IQCB1):c.264-2A>T http://identifiers.org/clinvar/167199 ^@ NM_002225.3(IVD):c.367G>A (p.Gly123Arg) http://identifiers.org/clinvar/167200 ^@ NM_002225.3(IVD):c.794-20A>G http://identifiers.org/clinvar/167201 ^@ NM_000214.2(JAG1):c.2559C>T (p.Ala853=) http://identifiers.org/clinvar/167204 ^@ NM_002247.3(KCNMA1):c.135_137dupCTC (p.Ser60_Val61insSer) http://identifiers.org/clinvar/167205 ^@ NM_172107.3(KCNQ2):c.*4G>A http://identifiers.org/clinvar/167206 ^@ NM_172107.3(KCNQ2):c.1842C>T (p.Pro614=) http://identifiers.org/clinvar/167209 ^@ NM_133497.3(KCNV2):c.612G>A (p.Glu204=) http://identifiers.org/clinvar/167211 ^@ NM_133497.3(KCNV2):c.849G>A (p.Glu283=) http://identifiers.org/clinvar/167212 ^@ NM_133497.3(KCNV2):c.1086C>G (p.Arg362=) http://identifiers.org/clinvar/167213 ^@ NM_001291415.1(KDM6A):c.2859-6_2859-5delTT http://identifiers.org/clinvar/167214 ^@ NM_001291415.1(KDM6A):c.3354A>G (p.Thr1118=) http://identifiers.org/clinvar/167215 ^@ NM_001008537.2(KIAA2022):c.1582delA (p.Arg528Glufs) http://identifiers.org/clinvar/167216 ^@ NM_001031710.2(KLHL7):c.1440A>G (p.Lys480=) http://identifiers.org/clinvar/167219 ^@ NM_003482.3(KMT2D):c.13797G>A (p.Ala4599=) http://identifiers.org/clinvar/167220 ^@ NM_003482.3(KMT2D):c.13437G>T (p.Gly4479=) http://identifiers.org/clinvar/167221 ^@ NM_003482.3(KMT2D):c.12261C>G (p.Ser4087Arg) http://identifiers.org/clinvar/167223 ^@ NM_003482.3(KMT2D):c.7710C>T (p.Pro2570=) http://identifiers.org/clinvar/167225 ^@ NM_003482.3(KMT2D):c.6456C>T (p.Gly2152=) http://identifiers.org/clinvar/167227 ^@ NM_003482.3(KMT2D):c.3906+20C>T http://identifiers.org/clinvar/167229 ^@ NM_003482.3(KMT2D):c.2797+1G>A http://identifiers.org/clinvar/167230 ^@ NM_003482.3(KMT2D):c.1814_1815delAG (p.Glu605Valfs) http://identifiers.org/clinvar/167231 ^@ NM_003482.3(KMT2D):c.1488G>A (p.Pro496=) http://identifiers.org/clinvar/167233 ^@ NM_000425.4(L1CAM):c.1977T>C (p.Pro659=) http://identifiers.org/clinvar/167234 ^@ NM_003482.3(KMT2D):c.133delA (p.Ser45Valfs) http://identifiers.org/clinvar/167235 ^@ NM_004985.4(KRAS):c.291-10delT http://identifiers.org/clinvar/167236 ^@ NM_000425.4(L1CAM):c.3519C>T (p.Phe1173=) http://identifiers.org/clinvar/167237 ^@ NM_000425.4(L1CAM):c.3192G>T (p.Ser1064=) http://identifiers.org/clinvar/167239 ^@ NM_000426.3(LAMA2):c.675C>T (p.Ala225=) http://identifiers.org/clinvar/167240 ^@ NM_000426.3(LAMA2):c.2304C>T (p.Asp768=) http://identifiers.org/clinvar/167242 ^@ NM_000426.3(LAMA2):c.3623_3645del23 (p.Lys1208Argfs) http://identifiers.org/clinvar/167243 ^@ NM_000426.3(LAMA2):c.5247C>T (p.Ala1749=) http://identifiers.org/clinvar/167244 ^@ NM_000426.3(LAMA2):c.5688C>T (p.His1896=) http://identifiers.org/clinvar/167247 ^@ NM_000426.3(LAMA2):c.7760T= (p.Val2587=) http://identifiers.org/clinvar/167250 ^@ NM_004737.5(LARGE1):c.1788G>A (p.Ala596=) http://identifiers.org/clinvar/167253 ^@ NM_004737.5(LARGE1):c.210C>T (p.Arg70=) http://identifiers.org/clinvar/167254 ^@ NM_004737.5(LARGE1):c.72C>T (p.Ile24=) http://identifiers.org/clinvar/167259 ^@ NM_004744.4(LRAT):c.*3T>G http://identifiers.org/clinvar/167261 ^@ NM_018328.4(MBD5):c.720G>A (p.Arg240=) http://identifiers.org/clinvar/167264 ^@ NM_018328.4(MBD5):c.3279C>T (p.Val1093=) http://identifiers.org/clinvar/167267 ^@ NM_020166.4(MCCC1):c.1905delA (p.Lys635Asnfs) http://identifiers.org/clinvar/167268 ^@ NM_020166.4(MCCC1):c.1614G>A (p.Ser538=) http://identifiers.org/clinvar/167269 ^@ NM_020166.4(MCCC1):c.1526delG (p.Cys509Serfs) http://identifiers.org/clinvar/167271 ^@ NM_020166.4(MCCC1):c.873G>A (p.Ala291=) http://identifiers.org/clinvar/167273 ^@ NM_020166.4(MCCC1):c.640-1G>A http://identifiers.org/clinvar/167274 ^@ NM_020166.4(MCCC1):c.137-2A>G http://identifiers.org/clinvar/167275 ^@ NM_022132.4(MCCC2):c.6G>C (p.Trp2Cys) http://identifiers.org/clinvar/167281 ^@ NM_024596.4(MCPH1):c.297C>T (p.His99=) http://identifiers.org/clinvar/167282 ^@ NM_005120.2(MED12):c.438A>G (p.Leu146=) http://identifiers.org/clinvar/167283 ^@ NM_005120.2(MED12):c.2886C>T (p.Ser962=) http://identifiers.org/clinvar/167284 ^@ NM_005120.2(MED12):c.3204C>T (p.Pro1068=) http://identifiers.org/clinvar/167285 ^@ NM_024596.4(MCPH1):c.433C>T (p.Leu145=) http://identifiers.org/clinvar/167287 ^@ NM_002397.4(MEF2C):c.926dupG (p.Gly310Argfs) http://identifiers.org/clinvar/167288 ^@ NM_000244.3(MEN1):c.1314C= (p.His438=) http://identifiers.org/clinvar/167290 ^@ NM_006343.2(MERTK):c.2916G>A (p.Ser972=) http://identifiers.org/clinvar/167294 ^@ NM_031433.3(MFRP):c.1014C>A (p.Ser338Arg) http://identifiers.org/clinvar/167297 ^@ NM_031433.3(MFRP):c.540T>C (p.His180=) http://identifiers.org/clinvar/167298 ^@ NM_033290.3(MID1):c.99C>T (p.Cys33=) http://identifiers.org/clinvar/167301 ^@ NM_000381.3(MID1):c.1302_1305dupTGAT (p.Ser436Terfs) http://identifiers.org/clinvar/167302 ^@ NM_033290.3(MID1):c.849_854delGATCAA (p.Ile284_Lys285del) http://identifiers.org/clinvar/167305 ^@ NM_002435.2(MPI):c.684C>T (p.Asn228=) http://identifiers.org/clinvar/167306 ^@ NM_005957.4(MTHFR):c.1305C>T (p.Phe435=) http://identifiers.org/clinvar/167308 ^@ NM_000252.2(MTM1):c.1415_1416delGT (p.Ser472Metfs) http://identifiers.org/clinvar/167309 ^@ NM_000252.2(MTM1):c.1644+3_1644+6delAAGT http://identifiers.org/clinvar/167311 ^@ NM_000255.3(MUT):c.753G>C (p.Lys251Asn) http://identifiers.org/clinvar/167312 ^@ NM_000255.3(MUT):c.280G>A (p.Gly94Arg) http://identifiers.org/clinvar/167313 ^@ NM_000260.3(MYO7A):c.3729G>A (p.Pro1243=) http://identifiers.org/clinvar/167314 ^@ NM_000260.3(MYO7A):c.5589C>G (p.His1863Gln) http://identifiers.org/clinvar/167315 ^@ NM_000260.3(MYO7A):c.*8C>T http://identifiers.org/clinvar/167316 ^@ NM_000261.1(MYOC):c.1491T>G (p.Tyr497Ter) http://identifiers.org/clinvar/167317 ^@ NM_006790.2(MYOT):c.220C= (p.Gln74=) http://identifiers.org/clinvar/167318 ^@ NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu) http://identifiers.org/clinvar/167321 ^@ NM_000263.3(NAGLU):c.383+1G>T http://identifiers.org/clinvar/167324 ^@ NM_000266.3(NDP):c.*10C>G http://identifiers.org/clinvar/167327 ^@ NM_001271208.1(NEB):c.23868G>C (p.Leu7956Phe) http://identifiers.org/clinvar/167329 ^@ NM_001271208.1(NEB):c.19626T>C (p.Asp6542=) http://identifiers.org/clinvar/167332 ^@ NM_004543.4(NEB):c.10348-21_10348-20dupCT http://identifiers.org/clinvar/167333 ^@ NM_001271208.1(NEB):c.10233T>C (p.Ala3411=) http://identifiers.org/clinvar/167335 ^@ NM_001271208.1(NEB):c.9831+4A>G http://identifiers.org/clinvar/167336 ^@ NM_001271208.1(NEB):c.3901C= (p.His1301=) http://identifiers.org/clinvar/167337 ^@ NM_001271208.1(NEB):c.3879+20G>T http://identifiers.org/clinvar/167338 ^@ NM_001271208.1(NEB):c.3879+8G>A http://identifiers.org/clinvar/167340 ^@ NM_001271208.1(NEB):c.2832C>T (p.Ser944=) http://identifiers.org/clinvar/167341 ^@ NM_001271208.1(NEB):c.1413C>T (p.Phe471=) http://identifiers.org/clinvar/167343 ^@ NM_001271208.1(NEB):c.492G>T (p.Ser164=) http://identifiers.org/clinvar/167345 ^@ NM_001271208.1(NEB):c.105G>A (p.Thr35=) http://identifiers.org/clinvar/167352 ^@ NM_198270.3(NHS):c.565+1G>T http://identifiers.org/clinvar/167353 ^@ NM_198270.3(NHS):c.618G>A (p.Pro206=) http://identifiers.org/clinvar/167354 ^@ NM_198270.3(NHS):c.1045G>A (p.Gly349Arg) http://identifiers.org/clinvar/167355 ^@ NM_198270.3(NHS):c.1080C>T (p.Cys360=) http://identifiers.org/clinvar/167356 ^@ NM_198270.3(NHS):c.1092T>C (p.His364=) http://identifiers.org/clinvar/167357 ^@ NM_198270.3(NHS):c.2570delG (p.Gly857Valfs) http://identifiers.org/clinvar/167358 ^@ NM_015384.4(NIPBL):c.42G>A (p.Ala14=) http://identifiers.org/clinvar/167359 ^@ NM_015384.4(NIPBL):c.126T>C (p.Phe42=) http://identifiers.org/clinvar/167360 ^@ NM_133433.3(NIPBL):c.5863-14_5863-11dupATAT http://identifiers.org/clinvar/167361 ^@ NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter) http://identifiers.org/clinvar/167362 ^@ NM_133433.3(NIPBL):c.8166A>G (p.Pro2722=) http://identifiers.org/clinvar/167365 ^@ NM_018977.3(NLGN3):c.1974C>T (p.Tyr658=) http://identifiers.org/clinvar/167367 ^@ NM_181332.2(NLGN4X):c.1476G>A (p.Glu492=) http://identifiers.org/clinvar/167368 ^@ NM_181332.2(NLGN4X):c.1470T>C (p.Gly490=) http://identifiers.org/clinvar/167369 ^@ NM_153240.4(NPHP3):c.57G>C (p.Thr19=) http://identifiers.org/clinvar/167370 ^@ NM_015102.4(NPHP4):c.3843G>T (p.Leu1281=) http://identifiers.org/clinvar/167371 ^@ NM_015102.4(NPHP4):c.3837C>T (p.Phe1279=) http://identifiers.org/clinvar/167374 ^@ NM_015102.4(NPHP4):c.2868C>T (p.Ala956=) http://identifiers.org/clinvar/167375 ^@ NM_015102.4(NPHP4):c.2818-2T>A http://identifiers.org/clinvar/167380 ^@ NM_153240.4(NPHP3):c.450G>A (p.Ala150=) http://identifiers.org/clinvar/167381 ^@ NM_001077482.2(NR1I3):c.966A>C (p.Leu322=) http://identifiers.org/clinvar/167382 ^@ NM_001077482.2(NR1I3):c.957G>A (p.Ala319=) http://identifiers.org/clinvar/167386 ^@ NM_006177.3(NRL):c.711C>G (p.Leu237=) http://identifiers.org/clinvar/167391 ^@ NM_022455.4(NSD1):c.153G>A (p.Ser51=) http://identifiers.org/clinvar/167392 ^@ NM_022455.4(NSD1):c.2103G>A (p.Lys701=) http://identifiers.org/clinvar/167396 ^@ NM_000274.3(OAT):c.648+14A>G http://identifiers.org/clinvar/167397 ^@ NM_000276.3(OCRL):c.973_975delCTT (p.Leu325del) http://identifiers.org/clinvar/167398 ^@ NM_015560.2(OPA1):c.531C>A (p.Ser177Arg) http://identifiers.org/clinvar/167399 ^@ NM_015560.2(OPA1):c.533T>A (p.Leu178Ter) http://identifiers.org/clinvar/167400 ^@ NM_015560.2(OPA1):c.625-4T>A http://identifiers.org/clinvar/167401 ^@ NM_015560.2(OPA1):c.870+1G>A http://identifiers.org/clinvar/167404 ^@ NM_015560.2(OPA1):c.1516+23A>G http://identifiers.org/clinvar/167406 ^@ NM_015560.2(OPA1):c.2883A>C (p.Ter961Tyr) http://identifiers.org/clinvar/167408 ^@ NM_002547.2(OPHN1):c.360G>A (p.Arg120=) http://identifiers.org/clinvar/167411 ^@ NM_000436.3(OXCT1):c.480G>T (p.Gly160=) http://identifiers.org/clinvar/167413 ^@ NM_000277.1(PAH):c.1155G= (p.Leu385=) http://identifiers.org/clinvar/167414 ^@ NM_000277.1(PAH):c.696A= (p.Gln232=) http://identifiers.org/clinvar/167415 ^@ NM_002578.4(PAK3):c.601-10G>T http://identifiers.org/clinvar/167416 ^@ NM_000280.4(PAX6):c.990G>A (p.Pro330=) http://identifiers.org/clinvar/167417 ^@ NM_001604.5(PAX6):c.192C>A (p.Asn64Lys) http://identifiers.org/clinvar/167420 ^@ NM_001184880.1(PCDH19):c.2721T>C (p.Ser907=) http://identifiers.org/clinvar/167422 ^@ NM_001184880.1(PCDH19):c.274_276delCTG (p.Leu92del) http://identifiers.org/clinvar/167423 ^@ NM_000532.4(PCCB):c.990dupT (p.Glu331Terfs) http://identifiers.org/clinvar/167424 ^@ NM_033056.3(PCDH15):c.5805G>T (p.Gly1935=) http://identifiers.org/clinvar/167425 ^@ NM_033056.3(PCDH15):c.5294_5302delTTGCTCCTC (p.Leu1765_Pro1767del) http://identifiers.org/clinvar/167426 ^@ NM_033056.3(PCDH15):c.4608A>G (p.Val1536=) http://identifiers.org/clinvar/167428 ^@ NM_033056.3(PCDH15):c.4320_4322dupGCC (p.Pro1443_Gly1444insPro) http://identifiers.org/clinvar/167430 ^@ NM_006031.5(PCNT):c.8401G>C (p.Val2801Leu) http://identifiers.org/clinvar/167432 ^@ NM_000440.2(PDE6A):c.1620G>A (p.Glu540=) http://identifiers.org/clinvar/167433 ^@ NM_000440.2(PDE6A):c.1407G>C (p.Leu469Phe) http://identifiers.org/clinvar/167434 ^@ NM_000440.2(PDE6A):c.998+11C>T http://identifiers.org/clinvar/167435 ^@ NM_000283.3(PDE6B):c.267C>T (p.Ala89=) http://identifiers.org/clinvar/167436 ^@ NM_000283.3(PDE6B):c.958A= (p.Ile320=) http://identifiers.org/clinvar/167437 ^@ NM_000283.3(PDE6B):c.1258-10T>A http://identifiers.org/clinvar/167438 ^@ NM_000283.3(PDE6B):c.1401+4C>T http://identifiers.org/clinvar/167439 ^@ NM_000283.3(PDE6B):c.1401+7_1401+8insA http://identifiers.org/clinvar/167440 ^@ NM_000283.3(PDE6B):c.2193+1G>A http://identifiers.org/clinvar/167441 ^@ NM_006204.3(PDE6C):c.471T>G (p.Asp157Glu) http://identifiers.org/clinvar/167442 ^@ NM_002602.3(PDE6G):c.*4G>A http://identifiers.org/clinvar/167443 ^@ NM_000466.2(PEX1):c.3505_3517delCAGTTGTTTTCAC (p.Gln1169Serfs) http://identifiers.org/clinvar/167444 ^@ NM_000466.2(PEX1):c.1359+5G>A http://identifiers.org/clinvar/167445 ^@ NM_000466.2(PEX1):c.627G>A (p.Met209Ile) http://identifiers.org/clinvar/167446 ^@ NM_000466.2(PEX1):c.473-3C>T http://identifiers.org/clinvar/167447 ^@ NM_000466.2(PEX1):c.473-18G>A http://identifiers.org/clinvar/167448 ^@ NM_000286.2(PEX12):c.117T>G (p.His39Gln) http://identifiers.org/clinvar/167450 ^@ NM_000286.2(PEX12):c.-26G>A http://identifiers.org/clinvar/167453 ^@ NM_004565.2(PEX14):c.1014C>T (p.Asp338=) http://identifiers.org/clinvar/167454 ^@ NM_004565.2(PEX14):c.1032G>T (p.Gly344=) http://identifiers.org/clinvar/167455 ^@ NM_001079867.1(PEX2):c.550C= (p.Arg184=) http://identifiers.org/clinvar/167457 ^@ NM_017929.5(PEX26):c.*10C>T http://identifiers.org/clinvar/167458 ^@ NM_003630.2(PEX3):c.332-20C>G http://identifiers.org/clinvar/167459 ^@ NM_003630.2(PEX3):c.1038+4A>G http://identifiers.org/clinvar/167460 ^@ NM_000319.4(PEX5):c.396T>C (p.Thr132=) http://identifiers.org/clinvar/167461 ^@ NM_000319.4(PEX5):c.471C>T (p.Ala157=) http://identifiers.org/clinvar/167462 ^@ NM_000319.4(PEX5):c.1221C>T (p.Asn407=) http://identifiers.org/clinvar/167464 ^@ NM_000287.3(PEX6):c.1677C>A (p.Asp559Glu) http://identifiers.org/clinvar/167465 ^@ NM_000287.3(PEX6):c.306G>T (p.Ala102=) http://identifiers.org/clinvar/167466 ^@ NM_000291.3(PGK1):c.639C>T (p.Gly213=) http://identifiers.org/clinvar/167468 ^@ NM_006214.3(PHYH):c.717C>T (p.Tyr239=) http://identifiers.org/clinvar/167472 ^@ NM_153427.2(PITX2):c.660G>A (p.Pro220=) http://identifiers.org/clinvar/167473 ^@ NM_138694.3(PKHD1):c.10926G>A (p.Met3642Ile) http://identifiers.org/clinvar/167474 ^@ NM_138694.3(PKHD1):c.10515C>A (p.Ser3505Arg) http://identifiers.org/clinvar/167476 ^@ NM_138694.3(PKHD1):c.9829+10T>G http://identifiers.org/clinvar/167480 ^@ NM_138694.3(PKHD1):c.8673C>G (p.Arg2891=) http://identifiers.org/clinvar/167482 ^@ NM_138694.3(PKHD1):c.8174-18T>A http://identifiers.org/clinvar/167484 ^@ NM_138694.3(PKHD1):c.6777C>T (p.Phe2259=) http://identifiers.org/clinvar/167486 ^@ NM_138694.3(PKHD1):c.5895dupA (p.Leu1966Thrfs) http://identifiers.org/clinvar/167487 ^@ NM_138694.3(PKHD1):c.4733delA (p.Tyr1578Phefs) http://identifiers.org/clinvar/167488 ^@ NM_138694.3(PKHD1):c.3756G>C (p.Leu1252=) http://identifiers.org/clinvar/167501 ^@ NM_004572.3(PKP2):c.1584G>A (p.Thr528=) http://identifiers.org/clinvar/167502 ^@ NM_000445.4(PLEC):c.12939G>A (p.Thr4313=) http://identifiers.org/clinvar/167504 ^@ NM_000445.4(PLEC):c.11289G>A (p.Pro3763=) http://identifiers.org/clinvar/167505 ^@ NM_000445.4(PLEC):c.10440G>A (p.Lys3480=) http://identifiers.org/clinvar/167506 ^@ NM_000445.4(PLEC):c.7911G>A (p.Ala2637=) http://identifiers.org/clinvar/167509 ^@ NM_000445.4(PLEC):c.5397G>A (p.Ala1799=) http://identifiers.org/clinvar/167511 ^@ NM_000445.4(PLEC):c.4299G>A (p.Glu1433=) http://identifiers.org/clinvar/167513 ^@ NM_000445.4(PLEC):c.3301C>T (p.Leu1101=) http://identifiers.org/clinvar/167514 ^@ NM_000445.4(PLEC):c.2559C>T (p.Asp853=) http://identifiers.org/clinvar/167515 ^@ NM_000445.4(PLEC):c.255+10delG http://identifiers.org/clinvar/167517 ^@ NM_007254.3(PNKP):c.1125G>A (p.Gly375=) http://identifiers.org/clinvar/167518 ^@ NM_007254.3(PNKP):c.921C>A (p.Ser307=) http://identifiers.org/clinvar/167519 ^@ NM_007171.3(POMT1):c.942C= (p.Thr314=) http://identifiers.org/clinvar/167520 ^@ NM_007171.3(POMT1):c.1113C= (p.Asp371=) http://identifiers.org/clinvar/167521 ^@ NM_002693.2(POLG):c.156_158delGCA (p.Gln55del) http://identifiers.org/clinvar/167522 ^@ NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln) http://identifiers.org/clinvar/167523 ^@ NM_002693.2(POLG):c.153_158delGCAGCA (p.Gln54_Gln55del) http://identifiers.org/clinvar/167524 ^@ NM_001243766.1(POMGNT1):c.1867G= (p.Val623=) http://identifiers.org/clinvar/167525 ^@ NM_001243766.1(POMGNT1):c.1831C>T (p.Leu611=) http://identifiers.org/clinvar/167529 ^@ NM_007171.3(POMT1):c.1651-14C>T http://identifiers.org/clinvar/167530 ^@ NM_153026.2(PRICKLE1):c.2262C>G (p.Leu754=) http://identifiers.org/clinvar/167531 ^@ NM_198859.3(PRICKLE2):c.516G>A (p.Leu172=) http://identifiers.org/clinvar/167532 ^@ NM_198859.3(PRICKLE2):c.123G>A (p.Pro41=) http://identifiers.org/clinvar/167534 ^@ NM_002743.3(PRKCSH):c.792C>T (p.Asp264=) http://identifiers.org/clinvar/167535 ^@ NM_006017.2(PROM1):c.1497C>T (p.Ile499=) http://identifiers.org/clinvar/167537 ^@ NM_015629.3(PRPF31):c.1147-9T>C http://identifiers.org/clinvar/167539 ^@ NM_015629.3(PRPF31):c.1374+9C>T http://identifiers.org/clinvar/167540 ^@ NM_006445.3(PRPF8):c.2235C>G (p.Ala745=) http://identifiers.org/clinvar/167541 ^@ NM_006445.3(PRPF8):c.52C>T (p.Leu18=) http://identifiers.org/clinvar/167542 ^@ NM_000322.4(PRPH2):c.*13C>T http://identifiers.org/clinvar/167544 ^@ NM_145239.2(PRRT2):c.751C= (p.Leu251=) http://identifiers.org/clinvar/167545 ^@ NM_145239.2(PRRT2):c.828C>T (p.Cys276=) http://identifiers.org/clinvar/167546 ^@ NM_145239.2(PRRT2):c.880-20A>T http://identifiers.org/clinvar/167550 ^@ NM_000314.6(PTEN):c.634+2T>G http://identifiers.org/clinvar/167551 ^@ NM_000314.6(PTEN):c.*8T>G http://identifiers.org/clinvar/167555 ^@ NM_030665.3(RAI1):c.837_838delGC (p.Gln280Alafs) http://identifiers.org/clinvar/167557 ^@ NM_030665.3(RAI1):c.1488G>A (p.Pro496=) http://identifiers.org/clinvar/167558 ^@ NM_030665.3(RAI1):c.1837G>A (p.Gly613Arg) http://identifiers.org/clinvar/167559 ^@ NM_030665.3(RAI1):c.2220C>T (p.Ser740=) http://identifiers.org/clinvar/167564 ^@ NM_000321.2(RB1):c.54_79del26 (p.Glu19Profs) http://identifiers.org/clinvar/167565 ^@ NM_000321.2(RB1):c.1191delA (p.Glu398Lysfs) http://identifiers.org/clinvar/167566 ^@ NM_000321.2(RB1):c.1390-14A>T http://identifiers.org/clinvar/167568 ^@ NM_000321.2(RB1):c.2212-16T>A http://identifiers.org/clinvar/167569 ^@ NM_005105.4(RBM8A):c.128-61C>A http://identifiers.org/clinvar/167573 ^@ NM_004260.3(RECQL4):c.3127C= (p.Leu1043=) http://identifiers.org/clinvar/167575 ^@ NM_005045.3(RELN):c.9690T>G (p.Ala3230=) http://identifiers.org/clinvar/167578 ^@ NM_005045.3(RELN):c.8811G>A (p.Ala2937=) http://identifiers.org/clinvar/167583 ^@ NM_005045.3(RELN):c.5274G>T (p.Ala1758=) http://identifiers.org/clinvar/167586 ^@ NM_005045.3(RELN):c.3053_3058dupCTCAAG (p.Gln1019_Asp1020insAlaGln) http://identifiers.org/clinvar/167587 ^@ NM_005045.3(RELN):c.1734G>A (p.Leu578=) http://identifiers.org/clinvar/167588 ^@ NM_005045.3(RELN):c.226+8C>T http://identifiers.org/clinvar/167591 ^@ NM_001012720.1(RGR):c.318T>C (p.Ser106=) http://identifiers.org/clinvar/167592 ^@ NM_001012720.1(RGR):c.744+5A>G http://identifiers.org/clinvar/167596 ^@ NM_207391.2(RGS9BP):c.696G>A (p.Ala232=) http://identifiers.org/clinvar/167597 ^@ NM_207391.2(RGS9BP):c.*2G>A http://identifiers.org/clinvar/167598 ^@ NM_014989.5(RIMS1):c.1764A>G (p.Gln588=) http://identifiers.org/clinvar/167600 ^@ NM_000327.3(ROM1):c.353C= (p.Ala118=) http://identifiers.org/clinvar/167601 ^@ NM_006269.1(RP1):c.228C>T (p.Leu76=) http://identifiers.org/clinvar/167607 ^@ NM_015272.4(RPGRIP1L):c.3372C>T (p.Ser1124=) http://identifiers.org/clinvar/190465 ^@ NM_018676.3(THSD1):c.670C>T (p.Arg224Ter) http://identifiers.org/clinvar/190456 ^@ NM_018676.3(THSD1):c.617G>A (p.Cys206Tyr) http://identifiers.org/clinvar/190453 ^@ NM_001288656.1(UBN1):c.2356T>A (p.Leu786Met) http://identifiers.org/clinvar/190459 ^@ NM_003803.3(MYOM1):c.4987G>A (p.Val1663Met) http://identifiers.org/clinvar/190458 ^@ NM_000308.3(CTSA):c.649delC (p.Leu217Phefs) http://identifiers.org/clinvar/190466 ^@ NM_005592.3(MUSK):c.40dupA (p.Thr14Asnfs) http://identifiers.org/clinvar/190467 ^@ NM_005592.3(MUSK):c.1724T>C (p.Ile575Thr) http://identifiers.org/clinvar/190468 ^@ NM_002582.3(PARN):c.246-2A>G http://identifiers.org/clinvar/190469 ^@ NM_002582.3(PARN):c.529C>T (p.Gln177Ter) http://identifiers.org/clinvar/190470 ^@ NM_002582.3(PARN):c.563dupT (p.Glu189Argfs) http://identifiers.org/clinvar/190471 ^@ NM_002582.3(PARN):c.1262A>G (p.Lys421Arg) http://identifiers.org/clinvar/190472 ^@ NM_001283009.1(RTEL1):c.602delG (p.Gly201Glufs) http://identifiers.org/clinvar/190473 ^@ NM_032957.4(RTEL1):c.1523C>T (p.Pro508Leu) http://identifiers.org/clinvar/190475 ^@ NM_032957.4(RTEL1):c.3443A>C (p.His1148Pro) http://identifiers.org/clinvar/190476 ^@ NM_001242896.1(DEPDC5):c.418C>T (p.Gln140Ter) http://identifiers.org/clinvar/190477 ^@ NM_001040431.2(COA3):c.199dupC (p.Leu67Profs) http://identifiers.org/clinvar/190478 ^@ NM_001040431.2(COA3):c.215A>G (p.Tyr72Cys) http://identifiers.org/clinvar/190480 ^@ NM_032492.3(JAGN1):c.40G>A (p.Gly14Ser) http://identifiers.org/clinvar/190479 ^@ NM_032492.3(JAGN1):c.59G>A (p.Arg20Gln) http://identifiers.org/clinvar/190481 ^@ NM_032492.3(JAGN1):c.297C>G (p.Tyr99Ter) http://identifiers.org/clinvar/190752 ^@ NM_001232.3(CASQ2):c.1194_1196delTGA (p.Asp398del) http://identifiers.org/clinvar/190739 ^@ NM_001232.3(CASQ2):c.1185delC (p.Asp395Glufs) http://identifiers.org/clinvar/190756 ^@ NM_001232.3(CASQ2):c.1127A>G (p.Asp376Gly) http://identifiers.org/clinvar/190748 ^@ NM_001232.3(CASQ2):c.1082G>C (p.Trp361Ser) http://identifiers.org/clinvar/190747 ^@ NM_001232.3(CASQ2):c.985C>T (p.Pro329Ser) http://identifiers.org/clinvar/190755 ^@ NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) http://identifiers.org/clinvar/190746 ^@ NM_001232.3(CASQ2):c.878G>C (p.Arg293Pro) http://identifiers.org/clinvar/190745 ^@ NM_001232.3(CASQ2):c.809T>C (p.Ile270Thr) http://identifiers.org/clinvar/190744 ^@ NM_001232.3(CASQ2):c.633G>T (p.Met211Ile) http://identifiers.org/clinvar/190743 ^@ NM_001232.3(CASQ2):c.606+1G>C http://identifiers.org/clinvar/190742 ^@ NM_001232.3(CASQ2):c.518G>T (p.Ser173Ile) http://identifiers.org/clinvar/190741 ^@ NM_001232.3(CASQ2):c.503T>C (p.Ile168Thr) http://identifiers.org/clinvar/190740 ^@ NM_001232.3(CASQ2):c.481A>C (p.Ile161Leu) http://identifiers.org/clinvar/190759 ^@ NM_001232.3(CASQ2):c.213delA (p.Gln71Hisfs) http://identifiers.org/clinvar/190754 ^@ NM_001232.3(CASQ2):c.204delA (p.Lys68Asnfs) http://identifiers.org/clinvar/190757 ^@ NM_001232.3(CASQ2):c.118A>G (p.Lys40Glu) http://identifiers.org/clinvar/190750 ^@ NM_001232.3(CASQ2):c.34T>A (p.Tyr12Asn) http://identifiers.org/clinvar/190753 ^@ NM_001232.3(CASQ2):c.18_20delGTT (p.Leu6del) http://identifiers.org/clinvar/190749 ^@ NM_001232.3(CASQ2):c.10A>T (p.Thr4Ser) http://identifiers.org/clinvar/190765 ^@ NM_015141.3(GPD1L):c.8delC (p.Ala3Glyfs) http://identifiers.org/clinvar/190760 ^@ NM_015141.3(GPD1L):c.81T>C (p.Asn27=) http://identifiers.org/clinvar/190761 ^@ NM_015141.3(GPD1L):c.366+8G>A http://identifiers.org/clinvar/190762 ^@ NM_015141.3(GPD1L):c.396G>A (p.Lys132=) http://identifiers.org/clinvar/190763 ^@ NM_015141.3(GPD1L):c.573C>G (p.Thr191=) http://identifiers.org/clinvar/190764 ^@ NM_015141.3(GPD1L):c.659G>A (p.Arg220His) http://identifiers.org/clinvar/190766 ^@ NM_015141.3(GPD1L):c.691C>T (p.Arg231Cys) http://identifiers.org/clinvar/190590 ^@ NM_001148.4(ANK2):c.80A>C (p.Lys27Thr) http://identifiers.org/clinvar/190537 ^@ NM_001148.4(ANK2):c.176C>T (p.Thr59Ile) http://identifiers.org/clinvar/190591 ^@ NM_001148.4(ANK2):c.257G>T (p.Arg86Ile) http://identifiers.org/clinvar/190519 ^@ NM_001148.4(ANK2):c.669+3A>G http://identifiers.org/clinvar/190538 ^@ NM_001148.4(ANK2):c.827G>A (p.Arg276Lys) http://identifiers.org/clinvar/190539 ^@ NM_001148.4(ANK2):c.961C>T (p.Arg321Trp) http://identifiers.org/clinvar/190540 ^@ NM_001148.4(ANK2):c.962G>A (p.Arg321Gln) http://identifiers.org/clinvar/190541 ^@ NM_001148.4(ANK2):c.1118C>T (p.Ala373Val) http://identifiers.org/clinvar/190542 ^@ NM_001148.4(ANK2):c.1135C>T (p.Arg379Cys) http://identifiers.org/clinvar/190592 ^@ NM_001148.4(ANK2):c.1136G>T (p.Arg379Leu) http://identifiers.org/clinvar/190593 ^@ NM_001148.4(ANK2):c.1142C>T (p.Thr381Ile) http://identifiers.org/clinvar/190543 ^@ NM_001148.4(ANK2):c.1229G>T (p.Arg410Leu) http://identifiers.org/clinvar/190544 ^@ NM_001148.4(ANK2):c.1252G>A (p.Val418Met) http://identifiers.org/clinvar/190545 ^@ NM_001148.4(ANK2):c.1372G>A (p.Asp458Asn) http://identifiers.org/clinvar/190546 ^@ NM_001148.4(ANK2):c.1397C>T (p.Thr466Met) http://identifiers.org/clinvar/190547 ^@ NM_001148.4(ANK2):c.1554A>T (p.Gln518His) http://identifiers.org/clinvar/190548 ^@ NM_001148.4(ANK2):c.1579A>G (p.Thr527Ala) http://identifiers.org/clinvar/190549 ^@ NM_001148.4(ANK2):c.1615C>T (p.Arg539Trp) http://identifiers.org/clinvar/190520 ^@ NM_001148.4(ANK2):c.1680C>T (p.Thr560=) http://identifiers.org/clinvar/190521 ^@ NM_001148.4(ANK2):c.1773T>C (p.Ser591=) http://identifiers.org/clinvar/190550 ^@ NM_001148.4(ANK2):c.1900C>T (p.His634Tyr) http://identifiers.org/clinvar/190551 ^@ NM_001148.4(ANK2):c.1910C>T (p.Ala637Val) http://identifiers.org/clinvar/190552 ^@ NM_001148.4(ANK2):c.1937C>T (p.Ser646Phe) http://identifiers.org/clinvar/190594 ^@ NM_001148.4(ANK2):c.2060A>G (p.Asn687Ser) http://identifiers.org/clinvar/190595 ^@ NM_001148.4(ANK2):c.2074A>G (p.Thr692Ala) http://identifiers.org/clinvar/190522 ^@ NM_001148.4(ANK2):c.2144C>T (p.Thr715Ile) http://identifiers.org/clinvar/190523 ^@ NM_001148.4(ANK2):c.2160T>A (p.Asp720Glu) http://identifiers.org/clinvar/190553 ^@ NM_001148.4(ANK2):c.2266G>A (p.Ala756Thr) http://identifiers.org/clinvar/190524 ^@ NM_001148.4(ANK2):c.2443G>A (p.Val815Ile) http://identifiers.org/clinvar/190589 ^@ NM_001148.4(ANK2):c.2472_2474delCAC (p.Thr826del) http://identifiers.org/clinvar/190525 ^@ NM_001148.4(ANK2):c.2479A>G (p.Ile827Val) http://identifiers.org/clinvar/190554 ^@ NM_001148.4(ANK2):c.2684G>A (p.Arg895Gln) http://identifiers.org/clinvar/190596 ^@ NM_001148.4(ANK2):c.2713G>A (p.Asp905Asn) http://identifiers.org/clinvar/190555 ^@ NM_001148.4(ANK2):c.2806C>G (p.Leu936Val) http://identifiers.org/clinvar/190597 ^@ NM_001148.4(ANK2):c.2807T>C (p.Leu936Pro) http://identifiers.org/clinvar/190598 ^@ NM_001148.4(ANK2):c.2813A>T (p.Lys938Met) http://identifiers.org/clinvar/190556 ^@ NM_001148.4(ANK2):c.2825G>C (p.Arg942Thr) http://identifiers.org/clinvar/190557 ^@ NM_001148.4(ANK2):c.2826G>T (p.Arg942Ser) http://identifiers.org/clinvar/190526 ^@ NM_001148.4(ANK2):c.2837G>A (p.Arg946His) http://identifiers.org/clinvar/190599 ^@ NM_001148.4(ANK2):c.2840T>C (p.Leu947Pro) http://identifiers.org/clinvar/190558 ^@ NM_001148.4(ANK2):c.2859C>G (p.Asn953Lys) http://identifiers.org/clinvar/190559 ^@ NM_001148.4(ANK2):c.2900+5141G>A http://identifiers.org/clinvar/190560 ^@ NM_001148.4(ANK2):c.2969G>A (p.Arg990Gln) http://identifiers.org/clinvar/190527 ^@ NM_001148.4(ANK2):c.2970A>C (p.Arg990=) http://identifiers.org/clinvar/190561 ^@ NM_001148.4(ANK2):c.3067G>A (p.Gly1023Arg) http://identifiers.org/clinvar/190562 ^@ NM_001148.4(ANK2):c.3074G>C (p.Gly1025Ala) http://identifiers.org/clinvar/190563 ^@ NM_001148.4(ANK2):c.3082A>G (p.Ser1028Gly) http://identifiers.org/clinvar/190564 ^@ NM_001148.4(ANK2):c.3085C>T (p.Arg1029Cys) http://identifiers.org/clinvar/190600 ^@ NM_001148.4(ANK2):c.3143C>T (p.Thr1048Met) http://identifiers.org/clinvar/190565 ^@ NM_001148.4(ANK2):c.3526G>T (p.Val1176Leu) http://identifiers.org/clinvar/190566 ^@ NM_001148.4(ANK2):c.3571C>T (p.Arg1191Trp) http://identifiers.org/clinvar/190567 ^@ NM_001148.4(ANK2):c.3572G>A (p.Arg1191Gln) http://identifiers.org/clinvar/190601 ^@ NM_001148.4(ANK2):c.3577C>T (p.Arg1193Cys) http://identifiers.org/clinvar/190602 ^@ NM_001148.4(ANK2):c.3623A>C (p.Lys1208Thr) http://identifiers.org/clinvar/190603 ^@ NM_001148.4(ANK2):c.3923A>G (p.Gln1308Arg) http://identifiers.org/clinvar/190568 ^@ NM_001148.4(ANK2):c.3931G>A (p.Val1311Ile) http://identifiers.org/clinvar/190569 ^@ NM_001148.4(ANK2):c.3979A>G (p.Met1327Val) http://identifiers.org/clinvar/190570 ^@ NM_001148.4(ANK2):c.4016C>T (p.Pro1339Leu) http://identifiers.org/clinvar/190571 ^@ NM_001148.4(ANK2):c.4310C>T (p.Thr1437Met) http://identifiers.org/clinvar/190604 ^@ NM_001148.4(ANK2):c.4367C>A (p.Thr1456Lys) http://identifiers.org/clinvar/190605 ^@ NM_001148.4(ANK2):c.4369A>G (p.Lys1457Glu) http://identifiers.org/clinvar/190572 ^@ NM_001148.4(ANK2):c.4835C>T (p.Thr1612Ile) http://identifiers.org/clinvar/190528 ^@ NM_001148.4(ANK2):c.9854T>C (p.Ile3285Thr) http://identifiers.org/clinvar/190573 ^@ NM_001148.4(ANK2):c.10693G>A (p.Glu3565Lys) http://identifiers.org/clinvar/190574 ^@ NM_001148.4(ANK2):c.10702C>T (p.Arg3568Trp) http://identifiers.org/clinvar/190529 ^@ NM_001148.4(ANK2):c.10703G>A (p.Arg3568Gln) http://identifiers.org/clinvar/190575 ^@ NM_001148.4(ANK2):c.10820A>G (p.Asn3607Ser) http://identifiers.org/clinvar/190606 ^@ NM_001148.4(ANK2):c.10825C>T (p.Leu3609Phe) http://identifiers.org/clinvar/190531 ^@ NM_001148.4(ANK2):c.10889-8T>A http://identifiers.org/clinvar/190576 ^@ NM_001148.4(ANK2):c.10948G>C (p.Glu3650Gln) http://identifiers.org/clinvar/190577 ^@ NM_001148.4(ANK2):c.11119G>A (p.Asp3707Asn) http://identifiers.org/clinvar/190578 ^@ NM_001148.4(ANK2):c.11134G>A (p.Val3712Ile) http://identifiers.org/clinvar/190579 ^@ NM_001148.4(ANK2):c.11230A>C (p.Thr3744Pro) http://identifiers.org/clinvar/190580 ^@ NM_001148.4(ANK2):c.11354A>G (p.Gln3785Arg) http://identifiers.org/clinvar/190581 ^@ NM_001148.4(ANK2):c.11453G>A (p.Ser3818Asn) http://identifiers.org/clinvar/190532 ^@ NM_001148.4(ANK2):c.11465G>C (p.Gly3822Ala) http://identifiers.org/clinvar/190582 ^@ NM_001148.4(ANK2):c.11470C>G (p.Pro3824Ala) http://identifiers.org/clinvar/190583 ^@ NM_001148.4(ANK2):c.11473A>G (p.Ile3825Val) http://identifiers.org/clinvar/190533 ^@ NM_001148.4(ANK2):c.11493G>T (p.Glu3831Asp) http://identifiers.org/clinvar/190534 ^@ NM_001148.4(ANK2):c.11524C>T (p.Arg3842Trp) http://identifiers.org/clinvar/190608 ^@ NM_001148.4(ANK2):c.11548G>A (p.Glu3850Lys) http://identifiers.org/clinvar/190609 ^@ NM_001148.4(ANK2):c.11555C>G (p.Ala3852Gly) http://identifiers.org/clinvar/190585 ^@ NM_001148.4(ANK2):c.11557G>A (p.Asp3853Asn) http://identifiers.org/clinvar/190610 ^@ NM_001148.4(ANK2):c.11594A>G (p.Asp3865Gly) http://identifiers.org/clinvar/190586 ^@ NM_001148.4(ANK2):c.11611G>A (p.Gly3871Arg) http://identifiers.org/clinvar/190587 ^@ NM_001148.4(ANK2):c.11650G>A (p.Glu3884Lys) http://identifiers.org/clinvar/190588 ^@ NM_001148.4(ANK2):c.11717G>A (p.Arg3906Gln) http://identifiers.org/clinvar/190836 ^@ NM_004387.3(NKX2-5):c.632C>T (p.Pro211Leu) http://identifiers.org/clinvar/190835 ^@ NM_004387.3(NKX2-5):c.590G>C (p.Arg197Pro) http://identifiers.org/clinvar/190834 ^@ NM_004387.3(NKX2-5):c.566G>C (p.Arg189Pro) http://identifiers.org/clinvar/190839 ^@ NM_004387.3(NKX2-5):c.554_555insC (p.Trp185Cysfs) http://identifiers.org/clinvar/190838 ^@ NM_004387.3(NKX2-5):c.508_516delCAGCTGGCC (p.Gln170_Ala172del) http://identifiers.org/clinvar/190833 ^@ NM_004387.3(NKX2-5):c.335-162G>A http://identifiers.org/clinvar/190837 ^@ NM_004387.3(NKX2-5):c.124G>C (p.Ala42Pro) http://identifiers.org/clinvar/190840 ^@ NM_004387.3(NKX2-5):c.65A>G (p.Gln22Arg) http://identifiers.org/clinvar/190516 ^@ NM_005751.4(AKAP9):c.109A>G (p.Lys37Glu) http://identifiers.org/clinvar/190499 ^@ NM_005751.4(AKAP9):c.119G>A (p.Arg40Lys) http://identifiers.org/clinvar/190500 ^@ NM_005751.4(AKAP9):c.235C>T (p.Pro79Ser) http://identifiers.org/clinvar/190501 ^@ NM_005751.4(AKAP9):c.288G>T (p.Glu96Asp) http://identifiers.org/clinvar/190502 ^@ NM_005751.4(AKAP9):c.289C>G (p.Gln97Glu) http://identifiers.org/clinvar/190518 ^@ NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) http://identifiers.org/clinvar/190513 ^@ NM_005751.4(AKAP9):c.610G>A (p.Asp204Asn) http://identifiers.org/clinvar/190503 ^@ NM_005751.4(AKAP9):c.1158A>T (p.Lys386Asn) http://identifiers.org/clinvar/190504 ^@ NM_005751.4(AKAP9):c.1223A>G (p.Asn408Ser) http://identifiers.org/clinvar/190505 ^@ NM_005751.4(AKAP9):c.1538A>G (p.Lys513Arg) http://identifiers.org/clinvar/190506 ^@ NM_005751.4(AKAP9):c.2425A>G (p.Ile809Val) http://identifiers.org/clinvar/190507 ^@ NM_005751.4(AKAP9):c.2477T>C (p.Ile826Thr) http://identifiers.org/clinvar/190508 ^@ NM_005751.4(AKAP9):c.4004_4006dupAAC (p.Lys1335_Leu1336insGln) http://identifiers.org/clinvar/190509 ^@ NM_005751.4(AKAP9):c.4127G>C (p.Ser1376Thr) http://identifiers.org/clinvar/190482 ^@ NM_005751.4(AKAP9):c.4693-11delT http://identifiers.org/clinvar/190483 ^@ NM_005751.4(AKAP9):c.4814C>T (p.Thr1605Met) http://identifiers.org/clinvar/190484 ^@ NM_005751.4(AKAP9):c.4825_4826delAGinsCA (p.Arg1609Gln) http://identifiers.org/clinvar/190485 ^@ NM_005751.4(AKAP9):c.4927A>C (p.Ile1643Leu) http://identifiers.org/clinvar/190486 ^@ NM_005751.4(AKAP9):c.4985C>T (p.Ala1662Val) http://identifiers.org/clinvar/190487 ^@ NM_005751.4(AKAP9):c.5058+12T>G http://identifiers.org/clinvar/190488 ^@ NM_005751.4(AKAP9):c.5117A>G (p.Asp1706Gly) http://identifiers.org/clinvar/190489 ^@ NM_005751.4(AKAP9):c.6974G>A (p.Arg2325Lys) http://identifiers.org/clinvar/190490 ^@ NM_005751.4(AKAP9):c.7034_7036delGAG (p.Arg2345_Glu2346delinsLys) http://identifiers.org/clinvar/190491 ^@ NM_005751.4(AKAP9):c.8207T>G (p.Val2736Gly) http://identifiers.org/clinvar/190492 ^@ NM_005751.4(AKAP9):c.8221G>T (p.Ala2741Ser) http://identifiers.org/clinvar/190493 ^@ NM_005751.4(AKAP9):c.8912A>G (p.His2971Arg) http://identifiers.org/clinvar/190510 ^@ NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr) http://identifiers.org/clinvar/190512 ^@ NM_005751.4(AKAP9):c.10254G>C (p.Gln3418His) http://identifiers.org/clinvar/190494 ^@ NM_005751.4(AKAP9):c.10319T>C (p.Met3440Thr) http://identifiers.org/clinvar/190495 ^@ NM_005751.4(AKAP9):c.10495A>G (p.Ile3499Val) http://identifiers.org/clinvar/190496 ^@ NM_005751.4(AKAP9):c.10526A>G (p.Asn3509Ser) http://identifiers.org/clinvar/190514 ^@ NM_005751.4(AKAP9):c.10664A>T (p.Asp3555Val) http://identifiers.org/clinvar/190497 ^@ NM_005751.4(AKAP9):c.11225G>C (p.Arg3742Pro) http://identifiers.org/clinvar/190498 ^@ NM_005751.4(AKAP9):c.11519T>C (p.Ile3840Thr) http://identifiers.org/clinvar/190719 ^@ NM_201590.2(CACNB2):c.-200232C>A http://identifiers.org/clinvar/190720 ^@ NM_201590.2(CACNB2):c.-200221G>A http://identifiers.org/clinvar/190721 ^@ NM_201590.2(CACNB2):c.-200220G>A http://identifiers.org/clinvar/190734 ^@ NM_201593.2(CACNB2):c.17delT (p.Met6Serfs) http://identifiers.org/clinvar/190738 ^@ NM_201590.2(CACNB2):c.-200138C>T http://identifiers.org/clinvar/190733 ^@ NM_201590.2(CACNB2):c.-200091G>T http://identifiers.org/clinvar/190712 ^@ NM_000724.3(CACNB2):c.-110391_-110390insG http://identifiers.org/clinvar/190722 ^@ NM_201590.2(CACNB2):c.-190032G>A http://identifiers.org/clinvar/190713 ^@ NM_201597.2(CACNB2):c.209G>A (p.Arg70His) http://identifiers.org/clinvar/190714 ^@ NM_201590.2(CACNB2):c.-79620G>C http://identifiers.org/clinvar/190723 ^@ NM_201590.2(CACNB2):c.503C>T (p.Ser168Leu) http://identifiers.org/clinvar/190724 ^@ NM_201590.2(CACNB2):c.642+665G>A http://identifiers.org/clinvar/190715 ^@ NM_201590.2(CACNB2):c.753T>C (p.Phe251=) http://identifiers.org/clinvar/190735 ^@ NM_201590.2(CACNB2):c.961G>A (p.Ala321Thr) http://identifiers.org/clinvar/190725 ^@ NM_201590.2(CACNB2):c.1149C>A (p.Phe383Leu) http://identifiers.org/clinvar/190726 ^@ NM_201590.2(CACNB2):c.1337G>A (p.Gly446Asp) http://identifiers.org/clinvar/190727 ^@ NM_201590.2(CACNB2):c.1360G>A (p.Ala454Thr) http://identifiers.org/clinvar/190728 ^@ NM_201590.2(CACNB2):c.1391A>C (p.Glu464Ala) http://identifiers.org/clinvar/190729 ^@ NM_201590.2(CACNB2):c.1430G>A (p.Arg477His) http://identifiers.org/clinvar/190730 ^@ NM_201590.2(CACNB2):c.1508C>T (p.Ser503Leu) http://identifiers.org/clinvar/190731 ^@ NM_201590.2(CACNB2):c.1534G>A (p.Ala512Thr) http://identifiers.org/clinvar/190717 ^@ NM_201590.2(CACNB2):c.1540G>A (p.Val514Ile) http://identifiers.org/clinvar/190736 ^@ NM_201590.2(CACNB2):c.1654C>T (p.Arg552Trp) http://identifiers.org/clinvar/190737 ^@ NM_201590.2(CACNB2):c.1679G>A (p.Arg560Gln) http://identifiers.org/clinvar/190732 ^@ NM_201590.2(CACNB2):c.1759G>A (p.Val587Met) http://identifiers.org/clinvar/190718 ^@ NM_201590.2(CACNB2):c.1813C>T (p.Arg605Cys) http://identifiers.org/clinvar/190895 ^@ NM_174934.3(SCN4B):c.632C>G (p.Thr211Arg) http://identifiers.org/clinvar/190898 ^@ NM_174934.3(SCN4B):c.463+5G>A http://identifiers.org/clinvar/190899 ^@ NM_174934.3(SCN4B):c.454G>A (p.Val152Ile) http://identifiers.org/clinvar/190894 ^@ NM_174934.3(SCN4B):c.281C>T (p.Thr94Met) http://identifiers.org/clinvar/190892 ^@ NM_174934.3(SCN4B):c.199C>T (p.Arg67Trp) http://identifiers.org/clinvar/190891 ^@ NM_174934.3(SCN4B):c.194A>T (p.His65Leu) http://identifiers.org/clinvar/190897 ^@ NM_174934.3(SCN4B):c.34G>A (p.Ala12Thr) http://identifiers.org/clinvar/190890 ^@ NM_174934.3(SCN4B):c.22G>A (p.Gly8Ser) http://identifiers.org/clinvar/190889 ^@ NM_174934.3(SCN4B):c.18C>A (p.Asp6Glu) http://identifiers.org/clinvar/190884 ^@ NM_018400.3(SCN3B):c.629C>T (p.Ala210Val) http://identifiers.org/clinvar/190883 ^@ NM_018400.3(SCN3B):c.582C>T (p.Asn194=) http://identifiers.org/clinvar/190888 ^@ NM_018400.3(SCN3B):c.416G>A (p.Arg139Gln) http://identifiers.org/clinvar/190886 ^@ NM_018400.3(SCN3B):c.328G>A (p.Val110Ile) http://identifiers.org/clinvar/190885 ^@ NM_018400.3(SCN3B):c.198C>T (p.Pro66=) http://identifiers.org/clinvar/190887 ^@ NM_018400.3(SCN3B):c.59G>A (p.Ser20Asn) http://identifiers.org/clinvar/190824 ^@ NM_000890.3(KCNJ5):c.10G>A (p.Asp4Asn) http://identifiers.org/clinvar/190825 ^@ NM_000890.3(KCNJ5):c.133G>A (p.Glu45Lys) http://identifiers.org/clinvar/190826 ^@ NM_000890.3(KCNJ5):c.314G>C (p.Gly105Ala) http://identifiers.org/clinvar/190827 ^@ NM_000890.3(KCNJ5):c.344G>A (p.Arg115Gln) http://identifiers.org/clinvar/190829 ^@ NM_000890.3(KCNJ5):c.703C>T (p.Arg235Trp) http://identifiers.org/clinvar/190801 ^@ NM_005472.4(KCNE3):c.263G>A (p.Arg88His) http://identifiers.org/clinvar/190800 ^@ NM_005472.4(KCNE3):c.20C>T (p.Thr7Met) http://identifiers.org/clinvar/190799 ^@ NM_005472.4(KCNE3):c.-190+18C>T http://identifiers.org/clinvar/190710 ^@ NM_000719.6(CACNA1C):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/190619 ^@ NM_000719.6(CACNA1C):c.50-18T>C http://identifiers.org/clinvar/190620 ^@ NM_000719.6(CACNA1C):c.50G>A (p.Gly17Asp) http://identifiers.org/clinvar/190675 ^@ NM_000719.6(CACNA1C):c.70C>T (p.Arg24Cys) http://identifiers.org/clinvar/190678 ^@ NM_000719.6(CACNA1C):c.91A>G (p.Asn31Asp) http://identifiers.org/clinvar/190679 ^@ NM_000719.6(CACNA1C):c.98A>G (p.Asn33Ser) http://identifiers.org/clinvar/190680 ^@ NM_000719.6(CACNA1C):c.101C>T (p.Ala34Val) http://identifiers.org/clinvar/190681 ^@ NM_000719.6(CACNA1C):c.154T>C (p.Trp52Arg) http://identifiers.org/clinvar/190682 ^@ NM_000719.6(CACNA1C):c.175G>T (p.Ala59Ser) http://identifiers.org/clinvar/190709 ^@ NM_000719.6(CACNA1C):c.202G>A (p.Ala68Thr) http://identifiers.org/clinvar/190683 ^@ NM_000719.6(CACNA1C):c.236C>T (p.Thr79Met) http://identifiers.org/clinvar/190684 ^@ NM_000719.6(CACNA1C):c.242G>A (p.Arg81Gln) http://identifiers.org/clinvar/190687 ^@ NM_000719.6(CACNA1C):c.257A>G (p.Tyr86Cys) http://identifiers.org/clinvar/190832 ^@ NM_004982.3(KCNJ8):c.263C>G (p.Ala88Gly) http://identifiers.org/clinvar/190830 ^@ NM_004982.3(KCNJ8):c.-40G>A http://identifiers.org/clinvar/190831 ^@ NM_004982.3(KCNJ8):c.-77G>A http://identifiers.org/clinvar/190690 ^@ NM_000719.6(CACNA1C):c.538G>A (p.Ala180Thr) http://identifiers.org/clinvar/190631 ^@ NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) http://identifiers.org/clinvar/190632 ^@ NM_000719.6(CACNA1C):c.985G>A (p.Gly329Ser) http://identifiers.org/clinvar/190633 ^@ NM_001167625.1(CACNA1C):c.1216G>A (p.Gly406Arg) http://identifiers.org/clinvar/190634 ^@ NM_001167623.1(CACNA1C):c.1216G>C (p.Gly406Arg) http://identifiers.org/clinvar/190696 ^@ NM_000719.6(CACNA1C):c.1141C>T (p.Pro381Ser) http://identifiers.org/clinvar/190697 ^@ NM_000719.6(CACNA1C):c.1255G>A (p.Gly419Arg) http://identifiers.org/clinvar/190635 ^@ NM_000719.6(CACNA1C):c.1342G>A (p.Asp448Asn) http://identifiers.org/clinvar/190636 ^@ NM_000719.6(CACNA1C):c.1366A>C (p.Met456Leu) http://identifiers.org/clinvar/190698 ^@ NM_000719.6(CACNA1C):c.1420G>T (p.Val474Phe) http://identifiers.org/clinvar/190638 ^@ NM_000719.6(CACNA1C):c.1481C>T (p.Ala494Val) http://identifiers.org/clinvar/190639 ^@ NM_000719.6(CACNA1C):c.1485C>A (p.His495Gln) http://identifiers.org/clinvar/190699 ^@ NM_000719.6(CACNA1C):c.1486C>T (p.Arg496Trp) http://identifiers.org/clinvar/190640 ^@ NM_000719.6(CACNA1C):c.1487G>A (p.Arg496Gln) http://identifiers.org/clinvar/190641 ^@ NM_000719.6(CACNA1C):c.1532G>A (p.Arg511Gln) http://identifiers.org/clinvar/190642 ^@ NM_000719.6(CACNA1C):c.1552C>T (p.Arg518Cys) http://identifiers.org/clinvar/190643 ^@ NM_000719.6(CACNA1C):c.1693G>A (p.Ala565Thr) http://identifiers.org/clinvar/190644 ^@ NM_000719.6(CACNA1C):c.1703C>T (p.Thr568Met) http://identifiers.org/clinvar/190611 ^@ NM_000719.6(CACNA1C):c.1783G>A (p.Val595Ile) http://identifiers.org/clinvar/190645 ^@ NM_000719.6(CACNA1C):c.1823C>T (p.Thr608Ile) http://identifiers.org/clinvar/190646 ^@ NM_000719.6(CACNA1C):c.1864G>A (p.Val622Ile) http://identifiers.org/clinvar/190647 ^@ NM_000719.6(CACNA1C):c.1931T>G (p.Leu644Trp) http://identifiers.org/clinvar/190612 ^@ NM_000719.6(CACNA1C):c.2067C>T (p.Phe689=) http://identifiers.org/clinvar/190648 ^@ NM_000719.6(CACNA1C):c.2113G>A (p.Gly705Arg) http://identifiers.org/clinvar/190691 ^@ NM_000719.6(CACNA1C):c.2314_2316delGAG (p.Glu772del) http://identifiers.org/clinvar/190649 ^@ NM_000719.6(CACNA1C):c.2327A>G (p.Lys776Arg) http://identifiers.org/clinvar/190613 ^@ NM_000719.6(CACNA1C):c.2339+18C>T http://identifiers.org/clinvar/190650 ^@ NM_000719.6(CACNA1C):c.2467A>G (p.Met823Val) http://identifiers.org/clinvar/190651 ^@ NM_000719.6(CACNA1C):c.2517C>A (p.Asn839Lys) http://identifiers.org/clinvar/190652 ^@ NM_000719.6(CACNA1C):c.2566G>A (p.Gly856Ser) http://identifiers.org/clinvar/190702 ^@ NM_000719.6(CACNA1C):c.2578C>G (p.Arg860Gly) http://identifiers.org/clinvar/190655 ^@ NM_000719.6(CACNA1C):c.2581C>T (p.Pro861Ser) http://identifiers.org/clinvar/190656 ^@ NM_000719.6(CACNA1C):c.2684G>A (p.Arg895His) http://identifiers.org/clinvar/190657 ^@ NM_000719.6(CACNA1C):c.2795T>C (p.Ile932Thr) http://identifiers.org/clinvar/190658 ^@ NM_000719.6(CACNA1C):c.2827A>G (p.Ile943Val) http://identifiers.org/clinvar/190703 ^@ NM_000719.6(CACNA1C):c.3220A>G (p.Ile1074Val) http://identifiers.org/clinvar/190704 ^@ NM_000719.6(CACNA1C):c.3295G>A (p.Asp1099Asn) http://identifiers.org/clinvar/190659 ^@ NM_000719.6(CACNA1C):c.3424A>C (p.Ile1142Leu) http://identifiers.org/clinvar/190660 ^@ NM_000719.6(CACNA1C):c.3461C>T (p.Ala1154Val) http://identifiers.org/clinvar/190661 ^@ NM_000719.6(CACNA1C):c.3631A>G (p.Lys1211Glu) http://identifiers.org/clinvar/190705 ^@ NM_000719.6(CACNA1C):c.3701T>A (p.Ile1234Asn) http://identifiers.org/clinvar/190662 ^@ NM_000719.6(CACNA1C):c.3829-626G>A http://identifiers.org/clinvar/190614 ^@ NM_000719.6(CACNA1C):c.3829-614A>G http://identifiers.org/clinvar/190663 ^@ NM_000719.6(CACNA1C):c.3829-584G>A http://identifiers.org/clinvar/190664 ^@ NM_000719.6(CACNA1C):c.3862G>A (p.Ala1288Thr) http://identifiers.org/clinvar/190665 ^@ NM_000719.6(CACNA1C):c.3874G>T (p.Val1292Leu) http://identifiers.org/clinvar/190666 ^@ NM_000719.6(CACNA1C):c.3930A>T (p.Gln1310His) http://identifiers.org/clinvar/190615 ^@ NM_000719.6(CACNA1C):c.3943A>G (p.Met1315Val) http://identifiers.org/clinvar/190616 ^@ NM_000719.6(CACNA1C):c.3946-66G>A http://identifiers.org/clinvar/190667 ^@ NM_000719.6(CACNA1C):c.3946-45C>G http://identifiers.org/clinvar/190668 ^@ NM_000719.6(CACNA1C):c.3946-44C>T http://identifiers.org/clinvar/190617 ^@ NM_000719.6(CACNA1C):c.3946-12G>A http://identifiers.org/clinvar/190669 ^@ NM_000719.6(CACNA1C):c.4040G>A (p.Arg1347Gln) http://identifiers.org/clinvar/190672 ^@ NM_000719.6(CACNA1C):c.4216G>A (p.Val1406Met) http://identifiers.org/clinvar/190618 ^@ NM_000719.6(CACNA1C):c.4727-9G>A http://identifiers.org/clinvar/190673 ^@ NM_000719.6(CACNA1C):c.4773G>T (p.Lys1591Asn) http://identifiers.org/clinvar/190693 ^@ NM_000719.6(CACNA1C):c.4910_4912delAGG (p.Gln1637_Gly1638delinsArg) http://identifiers.org/clinvar/190674 ^@ NM_000719.6(CACNA1C):c.4927C>T (p.Pro1643Ser) http://identifiers.org/clinvar/190676 ^@ NM_000719.6(CACNA1C):c.4984G>A (p.Gly1662Arg) http://identifiers.org/clinvar/190694 ^@ NM_000719.6(CACNA1C):c.5032_5034delGAG (p.Glu1678del) http://identifiers.org/clinvar/190708 ^@ NM_000719.6(CACNA1C):c.5033A>G (p.Glu1678Gly) http://identifiers.org/clinvar/190677 ^@ NM_000719.6(CACNA1C):c.5065G>A (p.Ala1689Thr) http://identifiers.org/clinvar/190621 ^@ NM_000719.6(CACNA1C):c.5119G>A (p.Val1707Ile) http://identifiers.org/clinvar/190622 ^@ NM_000719.6(CACNA1C):c.5120T>C (p.Val1707Ala) http://identifiers.org/clinvar/190685 ^@ NM_000719.6(CACNA1C):c.5144G>A (p.Arg1715Gln) http://identifiers.org/clinvar/190623 ^@ NM_000719.6(CACNA1C):c.5157C>G (p.Pro1719=) http://identifiers.org/clinvar/190686 ^@ NM_000719.6(CACNA1C):c.5198C>T (p.Ala1733Val) http://identifiers.org/clinvar/190624 ^@ NM_000719.6(CACNA1C):c.5235C>T (p.His1745=) http://identifiers.org/clinvar/190688 ^@ NM_000719.6(CACNA1C):c.5338C>T (p.Arg1780Cys) http://identifiers.org/clinvar/190625 ^@ NM_000719.6(CACNA1C):c.5478G>A (p.Ala1826=) http://identifiers.org/clinvar/190689 ^@ NM_000719.6(CACNA1C):c.5573+5G>C http://identifiers.org/clinvar/190627 ^@ NM_000719.6(CACNA1C):c.5929G>A (p.Val1977Ile) http://identifiers.org/clinvar/190629 ^@ NM_000719.6(CACNA1C):c.6050T>C (p.Met2017Thr) http://identifiers.org/clinvar/190790 ^@ NM_005477.2(HCN4):c.3512G>T (p.Arg1171Ile) http://identifiers.org/clinvar/190785 ^@ NM_005477.2(HCN4):c.3497_3500delCTTT (p.Ser1166Cysfs) http://identifiers.org/clinvar/190776 ^@ NM_005477.2(HCN4):c.3033T>G (p.Ser1011=) http://identifiers.org/clinvar/190775 ^@ NM_005477.2(HCN4):c.2831C>T (p.Ala944Val) http://identifiers.org/clinvar/190784 ^@ NM_005477.2(HCN4):c.2804C>T (p.Ser935Phe) http://identifiers.org/clinvar/190774 ^@ NM_005477.2(HCN4):c.2800C>T (p.Arg934Cys) http://identifiers.org/clinvar/190773 ^@ NM_005477.2(HCN4):c.2657C>T (p.Ala886Val) http://identifiers.org/clinvar/190783 ^@ NM_005477.2(HCN4):c.2527G>A (p.Ala843Thr) http://identifiers.org/clinvar/190782 ^@ NM_005477.2(HCN4):c.2522C>T (p.Ser841Leu) http://identifiers.org/clinvar/190789 ^@ NM_005477.2(HCN4):c.2458G>A (p.Gly820Arg) http://identifiers.org/clinvar/190772 ^@ NM_005477.2(HCN4):c.2275G>A (p.Val759Ile) http://identifiers.org/clinvar/190771 ^@ NM_005477.2(HCN4):c.1737+20G>A http://identifiers.org/clinvar/190770 ^@ NM_005477.2(HCN4):c.1703G>C (p.Ser568Thr) http://identifiers.org/clinvar/190769 ^@ NM_005477.2(HCN4):c.1683C>A (p.Gly561=) http://identifiers.org/clinvar/190768 ^@ NM_005477.2(HCN4):c.1371+8C>T http://identifiers.org/clinvar/190781 ^@ NM_005477.2(HCN4):c.1346G>C (p.Cys449Ser) http://identifiers.org/clinvar/190780 ^@ NM_005477.2(HCN4):c.1178G>A (p.Arg393His) http://identifiers.org/clinvar/190779 ^@ NM_005477.2(HCN4):c.1132C>T (p.Arg378Cys) http://identifiers.org/clinvar/190788 ^@ NM_005477.2(HCN4):c.584C>T (p.Ala195Val) http://identifiers.org/clinvar/190787 ^@ NM_005477.2(HCN4):c.520C>T (p.Pro174Ser) http://identifiers.org/clinvar/190786 ^@ NM_005477.2(HCN4):c.418G>A (p.Gly140Ser) http://identifiers.org/clinvar/190767 ^@ NM_005477.2(HCN4):c.338C>T (p.Thr113Met) http://identifiers.org/clinvar/190778 ^@ NM_005477.2(HCN4):c.196G>A (p.Glu66Lys) http://identifiers.org/clinvar/190805 ^@ NM_000891.2(KCNJ2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/190806 ^@ NM_000891.2(KCNJ2):c.118C>T (p.Arg40Ter) http://identifiers.org/clinvar/190807 ^@ NM_000891.2(KCNJ2):c.208G>A (p.Ala70Thr) http://identifiers.org/clinvar/190808 ^@ NM_000891.2(KCNJ2):c.226T>G (p.Cys76Gly) http://identifiers.org/clinvar/190809 ^@ NM_000891.2(KCNJ2):c.236T>C (p.Ile79Thr) http://identifiers.org/clinvar/190810 ^@ NM_000891.2(KCNJ2):c.256G>T (p.Val86Phe) http://identifiers.org/clinvar/190811 ^@ NM_000891.2(KCNJ2):c.328C>T (p.His110Tyr) http://identifiers.org/clinvar/190822 ^@ NM_000891.2(KCNJ2):c.394_396dupGCC (p.Ala132_Phe133insAla) http://identifiers.org/clinvar/190812 ^@ NM_000891.2(KCNJ2):c.566G>A (p.Arg189Lys) http://identifiers.org/clinvar/190813 ^@ NM_000891.2(KCNJ2):c.653G>T (p.Arg218Leu) http://identifiers.org/clinvar/190814 ^@ NM_000891.2(KCNJ2):c.821A>T (p.Asp274Val) http://identifiers.org/clinvar/190815 ^@ NM_000891.2(KCNJ2):c.896A>T (p.Glu299Val) http://identifiers.org/clinvar/190816 ^@ NM_000891.2(KCNJ2):c.901A>G (p.Met301Val) http://identifiers.org/clinvar/190820 ^@ NM_000891.2(KCNJ2):c.935G>A (p.Arg312His) http://identifiers.org/clinvar/190821 ^@ NM_000891.2(KCNJ2):c.973C>T (p.Arg325Cys) http://identifiers.org/clinvar/190817 ^@ NM_000891.2(KCNJ2):c.976T>A (p.Tyr326Asn) http://identifiers.org/clinvar/190818 ^@ NM_000891.2(KCNJ2):c.1045G>A (p.Glu349Lys) http://identifiers.org/clinvar/190803 ^@ NM_000891.2(KCNJ2):c.1080C>T (p.Asp360=) http://identifiers.org/clinvar/190804 ^@ NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) http://identifiers.org/clinvar/190819 ^@ NM_000891.2(KCNJ2):c.1244C>T (p.Pro415Leu) http://identifiers.org/clinvar/190841 ^@ NM_016492.4(RANGRF):c.52C>T (p.Leu18Phe) http://identifiers.org/clinvar/190844 ^@ NM_016492.4(RANGRF):c.151C>G (p.Leu51Val) http://identifiers.org/clinvar/190845 ^@ NM_016492.4(RANGRF):c.181G>T (p.Glu61Ter) http://identifiers.org/clinvar/190842 ^@ NM_016492.4(RANGRF):c.249G>C (p.Glu83Asp) http://identifiers.org/clinvar/190843 ^@ NM_016492.4(RANGRF):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/190851 ^@ NM_001037.4(SCN1B):c.-27G>T http://identifiers.org/clinvar/190867 ^@ NM_001037.4(SCN1B):c.22G>C (p.Val8Leu) http://identifiers.org/clinvar/190868 ^@ NM_001037.4(SCN1B):c.23T>C (p.Val8Ala) http://identifiers.org/clinvar/190869 ^@ NM_001037.4(SCN1B):c.28G>A (p.Gly10Ser) http://identifiers.org/clinvar/190870 ^@ NM_001037.4(SCN1B):c.38T>C (p.Leu13Pro) http://identifiers.org/clinvar/190879 ^@ NM_001037.4(SCN1B):c.73G>A (p.Asp25Asn) http://identifiers.org/clinvar/190880 ^@ NM_001037.4(SCN1B):c.82A>G (p.Thr28Ala) http://identifiers.org/clinvar/190855 ^@ NM_001037.4(SCN1B):c.85G>C (p.Glu29Gln) http://identifiers.org/clinvar/190856 ^@ NM_001037.4(SCN1B):c.121A>G (p.Ile41Val) http://identifiers.org/clinvar/190857 ^@ NM_001037.4(SCN1B):c.134G>A (p.Arg45His) http://identifiers.org/clinvar/190858 ^@ NM_001037.4(SCN1B):c.214C>T (p.Arg72Cys) http://identifiers.org/clinvar/190860 ^@ NM_001037.4(SCN1B):c.266G>A (p.Arg89His) http://identifiers.org/clinvar/190861 ^@ NM_001037.4(SCN1B):c.352G>T (p.Asp118Tyr) http://identifiers.org/clinvar/190862 ^@ NM_001037.4(SCN1B):c.367G>A (p.Val123Ile) http://identifiers.org/clinvar/190881 ^@ NM_001037.4(SCN1B):c.374G>A (p.Arg125His) http://identifiers.org/clinvar/190863 ^@ NM_001037.4(SCN1B):c.448+45G>A http://identifiers.org/clinvar/190864 ^@ NM_001037.4(SCN1B):c.448+144A>G http://identifiers.org/clinvar/190846 ^@ NM_001037.4(SCN1B):c.448+189C>A http://identifiers.org/clinvar/190847 ^@ NM_001037.4(SCN1B):c.448+193G>A http://identifiers.org/clinvar/190848 ^@ NM_001037.4(SCN1B):c.448+230C>T http://identifiers.org/clinvar/190849 ^@ NM_001037.4(SCN1B):c.448+295G>T http://identifiers.org/clinvar/190850 ^@ NM_199037.4(SCN1B):c.769G>A (p.Gly257Arg) http://identifiers.org/clinvar/190866 ^@ NM_001037.4(SCN1B):c.448+345C>T http://identifiers.org/clinvar/190882 ^@ NM_001037.4(SCN1B):c.448+354G>A http://identifiers.org/clinvar/190852 ^@ NM_001037.4(SCN1B):c.449-9C>A http://identifiers.org/clinvar/190871 ^@ NM_001037.4(SCN1B):c.449-1G>A http://identifiers.org/clinvar/190872 ^@ NM_001037.4(SCN1B):c.472G>A (p.Val158Met) http://identifiers.org/clinvar/190853 ^@ NM_001037.4(SCN1B):c.492T>C (p.Tyr164=) http://identifiers.org/clinvar/190874 ^@ NM_001037.4(SCN1B):c.590C>T (p.Ala197Val) http://identifiers.org/clinvar/190875 ^@ NM_001037.4(SCN1B):c.627G>C (p.Glu209Asp) http://identifiers.org/clinvar/190876 ^@ NM_001037.4(SCN1B):c.630C>A (p.Asn210Lys) http://identifiers.org/clinvar/190877 ^@ NM_001037.4(SCN1B):c.632G>A (p.Cys211Tyr) http://identifiers.org/clinvar/190878 ^@ NM_001037.4(SCN1B):c.638G>A (p.Gly213Asp) http://identifiers.org/clinvar/190854 ^@ NM_001037.4(SCN1B):c.640G>A (p.Val214Ile) http://identifiers.org/clinvar/190925 ^@ NM_003098.2(SNTA1):c.1394T>C (p.Phe465Ser) http://identifiers.org/clinvar/190924 ^@ NM_003098.2(SNTA1):c.1324C>T (p.Arg442Ter) http://identifiers.org/clinvar/190923 ^@ NM_003098.2(SNTA1):c.1300T>C (p.Trp434Arg) http://identifiers.org/clinvar/190922 ^@ NM_003098.2(SNTA1):c.1279A>G (p.Ile427Val) http://identifiers.org/clinvar/190921 ^@ NM_003098.2(SNTA1):c.1256G>A (p.Arg419His) http://identifiers.org/clinvar/190920 ^@ NM_003098.2(SNTA1):c.1244C>T (p.Thr415Met) http://identifiers.org/clinvar/190900 ^@ NM_003098.2(SNTA1):c.1238-11C>T http://identifiers.org/clinvar/190937 ^@ NM_003098.2(SNTA1):c.1225G>C (p.Glu409Gln) http://identifiers.org/clinvar/190919 ^@ NM_003098.2(SNTA1):c.1109C>T (p.Thr370Met) http://identifiers.org/clinvar/190908 ^@ NM_003098.2(SNTA1):c.1105C>T (p.Arg369Cys) http://identifiers.org/clinvar/190918 ^@ NM_003098.2(SNTA1):c.1088A>C (p.Glu363Ala) http://identifiers.org/clinvar/190917 ^@ NM_003098.2(SNTA1):c.992G>A (p.Arg331His) http://identifiers.org/clinvar/190916 ^@ NM_003098.2(SNTA1):c.991C>T (p.Arg331Cys) http://identifiers.org/clinvar/190914 ^@ NM_003098.2(SNTA1):c.787G>T (p.Ala263Ser) http://identifiers.org/clinvar/190913 ^@ NM_003098.2(SNTA1):c.773G>A (p.Arg258Lys) http://identifiers.org/clinvar/190912 ^@ NM_003098.2(SNTA1):c.759T>A (p.Asp253Glu) http://identifiers.org/clinvar/190911 ^@ NM_003098.2(SNTA1):c.677G>A (p.Cys226Tyr) http://identifiers.org/clinvar/190910 ^@ NM_003098.2(SNTA1):c.668C>T (p.Ser223Leu) http://identifiers.org/clinvar/190936 ^@ NM_003098.2(SNTA1):c.622A>T (p.Asn208Tyr) http://identifiers.org/clinvar/190935 ^@ NM_003098.2(SNTA1):c.556G>A (p.Gly186Ser) http://identifiers.org/clinvar/190909 ^@ NM_003098.2(SNTA1):c.526T>C (p.Phe176Leu) http://identifiers.org/clinvar/190930 ^@ NM_003098.2(SNTA1):c.440C>A (p.Thr147Asn) http://identifiers.org/clinvar/190938 ^@ NM_003098.2(SNTA1):c.403A>C (p.Ile135Leu) http://identifiers.org/clinvar/190928 ^@ NM_003098.2(SNTA1):c.364G>A (p.Ala122Thr) http://identifiers.org/clinvar/190901 ^@ NM_003098.2(SNTA1):c.311-6G>A http://identifiers.org/clinvar/190907 ^@ NM_003098.2(SNTA1):c.287G>C (p.Gly96Ala) http://identifiers.org/clinvar/190906 ^@ NM_003098.2(SNTA1):c.280G>C (p.Asp94His) http://identifiers.org/clinvar/190905 ^@ NM_003098.2(SNTA1):c.259C>A (p.Arg87Ser) http://identifiers.org/clinvar/190934 ^@ NM_003098.2(SNTA1):c.160G>C (p.Gly54Arg) http://identifiers.org/clinvar/190903 ^@ NM_003098.2(SNTA1):c.128G>A (p.Ser43Asn) http://identifiers.org/clinvar/190933 ^@ NM_003098.2(SNTA1):c.70G>A (p.Gly24Ser) http://identifiers.org/clinvar/190932 ^@ NM_003098.2(SNTA1):c.40G>A (p.Glu14Lys) http://identifiers.org/clinvar/190902 ^@ NM_003098.2(SNTA1):c.22C>G (p.Pro8Ala) http://identifiers.org/clinvar/190931 ^@ NM_003098.2(SNTA1):c.16C>T (p.Arg6Cys) http://identifiers.org/clinvar/190791 ^@ NM_172201.1(KCNE2):c.-30T>C http://identifiers.org/clinvar/190793 ^@ NM_172201.1(KCNE2):c.-13+5G>A http://identifiers.org/clinvar/190794 ^@ NM_172201.1(KCNE2):c.47G>A (p.Arg16Gln) http://identifiers.org/clinvar/190798 ^@ NM_172201.1(KCNE2):c.205G>A (p.Val69Met) http://identifiers.org/clinvar/190792 ^@ NM_172201.1(KCNE2):c.354G>A (p.Gly118=) http://identifiers.org/clinvar/190795 ^@ NM_172201.1(KCNE2):c.362T>A (p.Met121Lys) http://identifiers.org/clinvar/190797 ^@ NM_172201.1(KCNE2):c.369_370delCT (p.Ter124Ilefs) http://identifiers.org/clinvar/190796 ^@ NM_172201.1(KCNE2):c.371G>C (p.Ter124Ser) http://identifiers.org/clinvar/190893 ^@ NM_174934.3(SCN4B):c.235-18A>G http://identifiers.org/clinvar/190940 ^@ NM_022134.2(GAL3ST2):c.197C>T (p.Thr66Met) http://identifiers.org/clinvar/190952 ^@ C9, ARG133TER http://identifiers.org/clinvar/190953 ^@ SPTAN1, 9-BP DUP, NT6908 http://identifiers.org/clinvar/190954 ^@ NM_001605.2(AARS):c.2677G>A (p.Asp893Asn) http://identifiers.org/clinvar/190957 ^@ NM_000540.2(RYR1):c.2097_2123del27 (p.Glu699_Gly707del) http://identifiers.org/clinvar/190959 ^@ NM_145200.3(CABP4):c.646C>T (p.Arg216Ter) http://identifiers.org/clinvar/190960 ^@ NM_145200.3(CABP4):c.81_82insA (p.Pro28Thrfs) http://identifiers.org/clinvar/190967 ^@ NM_144499.2(GNAT1):c.598C>G (p.Gln200Glu) http://identifiers.org/clinvar/190968 ^@ NM_144499.2(GNAT1):c.386A>G (p.Asp129Gly) http://identifiers.org/clinvar/190970 ^@ NM_015604.3(DCAF4):c.728+1334G>A http://identifiers.org/clinvar/190973 ^@ NC_000023.9:g.(48802381_48809279)_(48829265_48854335)del http://identifiers.org/clinvar/190974 ^@ NM_198576.3(AGRN):c.2457G>C (p.Gly819=) http://identifiers.org/clinvar/190975 ^@ NM_015102.4(NPHP4):c.4075C>T (p.Arg1359Trp) http://identifiers.org/clinvar/190976 ^@ NM_015102.4(NPHP4):c.3160C>T (p.Arg1054Cys) http://identifiers.org/clinvar/190977 ^@ NM_022787.3(NMNAT1):c.53A>G (p.Asn18Ser) http://identifiers.org/clinvar/190978 ^@ NM_004431.4(EPHA2):c.2007G>T (p.Gln669His) http://identifiers.org/clinvar/190979 ^@ NM_003680.3(YARS):c.789C>A (p.Phe263Leu) http://identifiers.org/clinvar/190980 ^@ NM_013411.4(AK2):c.545C>A (p.Ala182Asp) http://identifiers.org/clinvar/190981 ^@ NM_001146289.1(P3H1):c.1170+9G>A http://identifiers.org/clinvar/190982 ^@ NM_000329.2(RPE65):c.1366delG (p.Glu456Lysfs) http://identifiers.org/clinvar/190983 ^@ NM_000350.2(ABCA4):c.5391_5392delTG (p.Ala1798Terfs) http://identifiers.org/clinvar/190984 ^@ NM_000350.2(ABCA4):c.4852T>A (p.Trp1618Arg) http://identifiers.org/clinvar/190985 ^@ NM_000350.2(ABCA4):c.2815G>T (p.Glu939Ter) http://identifiers.org/clinvar/190986 ^@ NM_002016.1(FLG):c.11573G>A (p.Arg3858His) http://identifiers.org/clinvar/190987 ^@ NM_170707.3(LMNA):c.1774G>A (p.Gly592Arg) http://identifiers.org/clinvar/190988 ^@ NM_001007792.1(NTRK1):c.1838G>A (p.Arg613Gln) http://identifiers.org/clinvar/190989 ^@ NM_198053.2(CD247):c.58+8C>T http://identifiers.org/clinvar/190990 ^@ NM_201253.2(CRB1):c.1180T>C (p.Cys394Arg) http://identifiers.org/clinvar/190991 ^@ NM_201253.2(CRB1):c.1783G>A (p.Ala595Thr) http://identifiers.org/clinvar/190992 ^@ NM_002838.4(PTPRC):c.3545T>C (p.Leu1182Ser) http://identifiers.org/clinvar/190993 ^@ NM_000228.2(LAMB3):c.1977-1G>A http://identifiers.org/clinvar/190994 ^@ NM_206933.2(USH2A):c.4429G>T (p.Gly1477Ter) http://identifiers.org/clinvar/190995 ^@ NM_000081.3(LYST):c.6694G>T (p.Gly2232Ter) http://identifiers.org/clinvar/190996 ^@ NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) http://identifiers.org/clinvar/190997 ^@ NM_001035.2(RYR2):c.659G>A (p.Gly220Glu) http://identifiers.org/clinvar/190998 ^@ NM_001035.2(RYR2):c.9407G>A (p.Ser3136Asn) http://identifiers.org/clinvar/190999 ^@ NM_001035.2(RYR2):c.10046C>T (p.Ser3349Leu) http://identifiers.org/clinvar/191000 ^@ NM_001033855.2(DCLRE1C):c.403G>A (p.Gly135Arg) http://identifiers.org/clinvar/191001 ^@ NM_032578.3(MYPN):c.935C>T (p.Ser312Phe) http://identifiers.org/clinvar/191002 ^@ NM_014000.2(VCL):c.2924G>A (p.Arg975Gln) http://identifiers.org/clinvar/191003 ^@ NM_006721.3(ADK):c.741T>A (p.Phe247Leu) http://identifiers.org/clinvar/191004 ^@ NM_001171971.2(CDHR1):c.476C>A (p.Ala159Glu) http://identifiers.org/clinvar/191005 ^@ NM_001171971.2(CDHR1):c.1536T>A (p.Tyr512Ter) http://identifiers.org/clinvar/191006 ^@ NM_007078.2(LDB3):c.1799G>C (p.Arg600Pro) http://identifiers.org/clinvar/191007 ^@ NM_213606.3(SLC16A12):c.404C>T (p.Ala135Val) http://identifiers.org/clinvar/191008 ^@ NM_014391.2(ANKRD1):c.790C>T (p.Arg264Cys) http://identifiers.org/clinvar/191009 ^@ NM_006204.3(PDE6C):c.712C>T (p.Arg238Ter) http://identifiers.org/clinvar/191010 ^@ NM_006204.3(PDE6C):c.939+5G>A http://identifiers.org/clinvar/191011 ^@ NM_006204.3(PDE6C):c.1613T>C (p.Phe538Ser) http://identifiers.org/clinvar/191012 ^@ NM_006204.3(PDE6C):c.1946T>C (p.Ile649Thr) http://identifiers.org/clinvar/191013 ^@ NM_000195.4(HPS1):c.1395G>A (p.Trp465Ter) http://identifiers.org/clinvar/191014 ^@ NM_000392.4(ABCC2):c.2273G>T (p.Gly758Val) http://identifiers.org/clinvar/191015 ^@ NM_004281.3(BAG3):c.1630G>C (p.Asp544His) http://identifiers.org/clinvar/191016 ^@ NM_000280.4(PAX6):c.978C>G (p.Tyr326Ter) http://identifiers.org/clinvar/191017 ^@ NM_000448.2(RAG1):c.1438A>G (p.Ser480Gly) http://identifiers.org/clinvar/191018 ^@ NM_000536.3(RAG2):c.547T>C (p.Phe183Leu) http://identifiers.org/clinvar/191019 ^@ NM_000536.3(RAG2):c.374_375delCA (p.Thr125Argfs) http://identifiers.org/clinvar/191020 ^@ NM_000256.3(MYBPC3):c.3611T>C (p.Val1204Ala) http://identifiers.org/clinvar/191021 ^@ NM_000256.3(MYBPC3):c.270C>G (p.Phe90Leu) http://identifiers.org/clinvar/191022 ^@ NM_032193.3(RNASEH2C):c.478C>T (p.Gln160Ter) http://identifiers.org/clinvar/191023 ^@ NM_002335.3(LRP5):c.685C>T (p.Arg229Trp) http://identifiers.org/clinvar/191024 ^@ NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) http://identifiers.org/clinvar/191025 ^@ NM_014679.4(CEP57):c.89G>C (p.Arg30Pro) http://identifiers.org/clinvar/191026 ^@ NM_031433.3(MFRP):c.746G>A (p.Trp249Ter) http://identifiers.org/clinvar/191027 ^@ NM_031433.3(MFRP):c.574G>C (p.Glu192Gln) http://identifiers.org/clinvar/191028 ^@ NM_213655.4(WNK1):c.2152C>T (p.Arg718Cys) http://identifiers.org/clinvar/191029 ^@ NM_000719.6(CACNA1C):c.169G>A (p.Asp57Asn) http://identifiers.org/clinvar/191030 ^@ NM_020634.2(GDF3):c.232G>C (p.Val78Leu) http://identifiers.org/clinvar/191031 ^@ NM_020661.3(AICDA):c.169G>A (p.Val57Met) http://identifiers.org/clinvar/191032 ^@ NM_005691.3(ABCC9):c.3520C>T (p.His1174Tyr) http://identifiers.org/clinvar/191033 ^@ NM_005691.3(ABCC9):c.2815C>T (p.Arg939Trp) http://identifiers.org/clinvar/191034 ^@ NM_005691.3(ABCC9):c.1978C>T (p.Arg660Trp) http://identifiers.org/clinvar/191035 ^@ NM_004572.3(PKP2):c.1851G>C (p.Gln617His) http://identifiers.org/clinvar/191036 ^@ NM_001844.4(COL2A1):c.3230G>T (p.Gly1077Val) http://identifiers.org/clinvar/191037 ^@ NM_003482.3(KMT2D):c.11395C>T (p.Gln3799Ter) http://identifiers.org/clinvar/191038 ^@ NM_006009.3(TUBA1A):c.596A>G (p.Asp199Gly) http://identifiers.org/clinvar/191039 ^@ NM_002282.3(KRT83):c.1244T>G (p.Leu415Arg) http://identifiers.org/clinvar/191040 ^@ NM_018451.4(CENPJ):c.133C>T (p.Arg45Ter) http://identifiers.org/clinvar/191041 ^@ NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) http://identifiers.org/clinvar/191042 ^@ NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) http://identifiers.org/clinvar/191043 ^@ NM_002471.3(MYH6):c.1203C>A (p.Cys401Ter) http://identifiers.org/clinvar/191044 ^@ NM_000359.2(TGM1):c.977_978delCT (p.Ser326Cysfs) http://identifiers.org/clinvar/191045 ^@ NM_005249.4(FOXG1):c.694A>T (p.Asn232Tyr) http://identifiers.org/clinvar/191046 ^@ NM_001127713.1(ATL1):c.988A>T (p.Lys330Ter) http://identifiers.org/clinvar/191047 ^@ NM_182914.2(SYNE2):c.4462C>T (p.Gln1488Ter) http://identifiers.org/clinvar/191048 ^@ NM_017791.2(FLVCR2):c.998G>A (p.Arg333His) http://identifiers.org/clinvar/191049 ^@ NM_001193315.1(VIPAS39):c.136G>A (p.Val46Met) http://identifiers.org/clinvar/191050 ^@ NM_018418.4(SPATA7):c.288T>A (p.Cys96Ter) http://identifiers.org/clinvar/191051 ^@ NM_001080414.3(CCDC88C):c.4167G>C (p.Met1389Ile) http://identifiers.org/clinvar/191052 ^@ NM_014967.4(FAN1):c.93T>G (p.Ile31Met) http://identifiers.org/clinvar/191053 ^@ NM_002420.5(TRPM1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/191054 ^@ NM_144508.4(KNL1):c.3634G>A (p.Ala1212Thr) http://identifiers.org/clinvar/191055 ^@ NM_000070.2(CAPN3):c.310G>T (p.Glu104Ter) http://identifiers.org/clinvar/191056 ^@ NM_000070.2(CAPN3):c.2329A>G (p.Ile777Val) http://identifiers.org/clinvar/191057 ^@ NM_000070.2(CAPN3):c.2381-1G>A http://identifiers.org/clinvar/191058 ^@ NM_174916.2(UBR1):c.1258C>A (p.Gln420Lys) http://identifiers.org/clinvar/191059 ^@ NM_016346.3(NR2E3):c.119-2A>C http://identifiers.org/clinvar/191060 ^@ NM_014249.3(NR2E3):c.373C>T (p.Arg125Ter) http://identifiers.org/clinvar/191061 ^@ NM_014249.3(NR2E3):c.646G>A (p.Gly216Ser) http://identifiers.org/clinvar/191062 ^@ NM_014249.3(NR2E3):c.926G>T (p.Arg309Leu) http://identifiers.org/clinvar/191063 ^@ NM_000326.4(RLBP1):c.773T>G (p.Leu258Trp) http://identifiers.org/clinvar/191064 ^@ NM_000057.3(BLM):c.205G>A (p.Glu69Lys) http://identifiers.org/clinvar/191065 ^@ NM_004380.2(CREBBP):c.4890+2T>C http://identifiers.org/clinvar/191066 ^@ NM_020686.5(ABAT):c.709G>A (p.Asp237Asn) http://identifiers.org/clinvar/191067 ^@ NM_004530.5(MMP2):c.538G>A (p.Asp180Asn) http://identifiers.org/clinvar/191068 ^@ NM_031885.3(BBS2):c.508G>A (p.Asp170Asn) http://identifiers.org/clinvar/191069 ^@ NM_000180.3(GUCY2D):c.416T>C (p.Leu139Pro) http://identifiers.org/clinvar/191070 ^@ NM_000180.3(GUCY2D):c.527T>C (p.Leu176Pro) http://identifiers.org/clinvar/191071 ^@ NM_000382.2(ALDH3A2):c.623T>C (p.Leu208Pro) http://identifiers.org/clinvar/191072 ^@ NM_178170.2(NEK8):c.1401G>A (p.Trp467Ter) http://identifiers.org/clinvar/191073 ^@ NM_000286.2(PEX12):c.616C>T (p.Gln206Ter) http://identifiers.org/clinvar/191074 ^@ NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) http://identifiers.org/clinvar/191075 ^@ NM_001004334.3(GPR179):c.349G>A (p.Asp117Asn) http://identifiers.org/clinvar/191076 ^@ NM_021939.3(FKBP10):c.353delT (p.Ile118Metfs) http://identifiers.org/clinvar/191077 ^@ NM_021939.3(FKBP10):c.917+53G>T http://identifiers.org/clinvar/191078 ^@ NM_139276.2(STAT3):c.1868G>T (p.Trp623Leu) http://identifiers.org/clinvar/191079 ^@ NM_000088.3(COL1A1):c.3622A>T (p.Lys1208Ter) http://identifiers.org/clinvar/191080 ^@ NM_000088.3(COL1A1):c.2668-11T>G http://identifiers.org/clinvar/191081 ^@ NM_000088.3(COL1A1):c.2354G>A (p.Gly785Asp) http://identifiers.org/clinvar/191082 ^@ NM_000088.3(COL1A1):c.1002+2T>A http://identifiers.org/clinvar/191083 ^@ NM_017777.3(MKS1):c.1066C>T (p.Gln356Ter) http://identifiers.org/clinvar/191084 ^@ NM_001165927.1(MKS1):c.387+1G>A http://identifiers.org/clinvar/191085 ^@ NM_003835.3(RGS9):c.704C>T (p.Ala235Val) http://identifiers.org/clinvar/191086 ^@ NM_021734.4(SLC25A19):c.505G>A (p.Glu169Lys) http://identifiers.org/clinvar/191088 ^@ NM_019613.3(WDR45B):c.673C>T (p.Arg225Ter) http://identifiers.org/clinvar/191089 ^@ NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) http://identifiers.org/clinvar/191090 ^@ NM_144612.6(LOXHD1):c.4530+107A>G http://identifiers.org/clinvar/191091 ^@ NM_017653.3(DYM):c.1860+1G>A http://identifiers.org/clinvar/191092 ^@ NM_017653.3(DYM):c.1282C>T (p.Arg428Ter) http://identifiers.org/clinvar/191093 ^@ NM_017653.3(DYM):c.946+1G>A http://identifiers.org/clinvar/191094 ^@ NM_017653.3(DYM):c.422G>A (p.Ser141Asn) http://identifiers.org/clinvar/191095 ^@ NM_017653.3(DYM):c.272C>G (p.Ser91Ter) http://identifiers.org/clinvar/191096 ^@ NM_005359.5(SMAD4):c.1358C>T (p.Thr453Ile) http://identifiers.org/clinvar/191097 ^@ NM_001271043.2(NFIX):c.544G>T (p.Glu182Ter) http://identifiers.org/clinvar/191099 ^@ NM_001136035.2(TRMT1):c.967C>T (p.Arg323Cys) http://identifiers.org/clinvar/191100 ^@ NM_005804.3(DDX39A):c.677T>A (p.Phe226Tyr) http://identifiers.org/clinvar/191101 ^@ NM_000215.3(JAK3):c.913C>T (p.Gln305Ter) http://identifiers.org/clinvar/191102 ^@ NM_000215.3(JAK3):c.308G>A (p.Arg103His) http://identifiers.org/clinvar/191103 ^@ NM_004646.3(NPHS1):c.3385A>C (p.Thr1129Pro) http://identifiers.org/clinvar/191104 ^@ NM_016941.3(DLL3):c.1136G>A (p.Cys379Tyr) http://identifiers.org/clinvar/191105 ^@ NM_024301.4(FKRP):c.33G>C (p.Ala11=) http://identifiers.org/clinvar/191106 ^@ NM_000554.5(CRX):c.274G>A (p.Ala92Thr) http://identifiers.org/clinvar/191107 ^@ NM_005633.3(SOS1):c.2105A>G (p.Tyr702Cys) http://identifiers.org/clinvar/191108 ^@ NM_005633.3(SOS1):c.224A>T (p.Gln75Leu) http://identifiers.org/clinvar/191109 ^@ NM_133259.3(LRPPRC):c.1792C>T (p.Gln598Ter) http://identifiers.org/clinvar/191110 ^@ NM_003494.3(DYSF):c.89-1G>A http://identifiers.org/clinvar/191111 ^@ NM_003494.3(DYSF):c.631A>G (p.Lys211Glu) http://identifiers.org/clinvar/191112 ^@ NM_015120.4(ALMS1):c.767G>A (p.Arg256Lys) http://identifiers.org/clinvar/191113 ^@ NM_015120.4(ALMS1):c.2729C>G (p.Ser910Ter) http://identifiers.org/clinvar/191114 ^@ NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) http://identifiers.org/clinvar/191115 ^@ NM_015120.4(ALMS1):c.11876-2A>T http://identifiers.org/clinvar/191117 ^@ NM_000682.6(ADRA2B):c.664C>T (p.Arg222Ter) http://identifiers.org/clinvar/191118 ^@ NM_014014.4(SNRNP200):c.2593G>A (p.Gly865Ser) http://identifiers.org/clinvar/191119 ^@ NM_020184.3(CNNM4):c.734C>T (p.Ser245Leu) http://identifiers.org/clinvar/191120 ^@ NM_001298.2(CNGA3):c.955T>C (p.Cys319Arg) http://identifiers.org/clinvar/191121 ^@ NM_001298.2(CNGA3):c.1457G>A (p.Cys486Tyr) http://identifiers.org/clinvar/191122 ^@ NM_001298.2(CNGA3):c.1573G>A (p.Gly525Ser) http://identifiers.org/clinvar/191123 ^@ NM_006343.2(MERTK):c.325A>T (p.Lys109Ter) http://identifiers.org/clinvar/191124 ^@ NM_006343.2(MERTK):c.1604+2T>G http://identifiers.org/clinvar/191125 ^@ NM_006343.2(MERTK):c.2262C>G (p.Tyr754Ter) http://identifiers.org/clinvar/191126 ^@ NM_001172435.1(RAB3GAP1):c.1009C>T (p.Arg337Ter) http://identifiers.org/clinvar/191127 ^@ NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) http://identifiers.org/clinvar/191128 ^@ NM_001256850.1(TTN):c.93098G>A (p.Arg31033His) http://identifiers.org/clinvar/191129 ^@ NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) http://identifiers.org/clinvar/191130 ^@ NM_001267550.2(TTN):c.92813G>C (p.Arg30938Thr) http://identifiers.org/clinvar/191131 ^@ NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr) http://identifiers.org/clinvar/191132 ^@ NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter) http://identifiers.org/clinvar/191133 ^@ NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) http://identifiers.org/clinvar/191134 ^@ NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) http://identifiers.org/clinvar/191135 ^@ NM_001267550.2(TTN):c.67534G>T (p.Asp22512Tyr) http://identifiers.org/clinvar/191136 ^@ NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) http://identifiers.org/clinvar/191137 ^@ NM_001267550.2(TTN):c.62330G>A (p.Gly20777Glu) http://identifiers.org/clinvar/191138 ^@ NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) http://identifiers.org/clinvar/191139 ^@ NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val) http://identifiers.org/clinvar/191140 ^@ NM_001267550.2(TTN):c.32470+3A>G http://identifiers.org/clinvar/191141 ^@ NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) http://identifiers.org/clinvar/191142 ^@ NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys) http://identifiers.org/clinvar/191143 ^@ NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) http://identifiers.org/clinvar/191144 ^@ NM_001267550.2(TTN):c.6292C>G (p.Arg2098Gly) http://identifiers.org/clinvar/191145 ^@ NM_001030311.2(CERKL):c.890T>C (p.Ile297Thr) http://identifiers.org/clinvar/191146 ^@ NM_006891.3(CRYGD):c.134T>C (p.Leu45Pro) http://identifiers.org/clinvar/191147 ^@ NM_020989.3(CRYGC):c.403G>T (p.Glu135Ter) http://identifiers.org/clinvar/191148 ^@ NM_024782.2(NHEJ1):c.390+1G>C http://identifiers.org/clinvar/191149 ^@ NM_015311.2(OBSL1):c.951C>A (p.Tyr317Ter) http://identifiers.org/clinvar/191150 ^@ NM_000092.4(COL4A4):c.3577+3A>T http://identifiers.org/clinvar/191151 ^@ NM_000091.4(COL4A3):c.3964G>A (p.Gly1322Ser) http://identifiers.org/clinvar/191152 ^@ NM_004826.3(ECEL1):c.1210C>T (p.Arg404Cys) http://identifiers.org/clinvar/191153 ^@ NM_001195129.1(PRSS56):c.1400G>T (p.Arg467Leu) http://identifiers.org/clinvar/191154 ^@ NM_005199.4(CHRNG):c.55+1G>A http://identifiers.org/clinvar/191155 ^@ NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) http://identifiers.org/clinvar/191156 ^@ NM_004369.3(COL6A3):c.2302C>G (p.Arg768Gly) http://identifiers.org/clinvar/191157 ^@ NM_024101.6(MLPH):c.104G>A (p.Arg35Gln) http://identifiers.org/clinvar/191158 ^@ NM_001244008.1(KIF1A):c.223C>T (p.Arg75Trp) http://identifiers.org/clinvar/191159 ^@ NM_001042472.2(ABHD12):c.1189C>T (p.Gln397Ter) http://identifiers.org/clinvar/191160 ^@ NM_015338.5(ASXL1):c.453C>A (p.Ser151Arg) http://identifiers.org/clinvar/191161 ^@ NM_015338.5(ASXL1):c.2989G>C (p.Glu997Gln) http://identifiers.org/clinvar/191162 ^@ NM_015338.5(ASXL1):c.3635C>T (p.Ser1212Phe) http://identifiers.org/clinvar/191163 ^@ NM_004738.4(VAPB):c.656G>T (p.Gly219Val) http://identifiers.org/clinvar/191164 ^@ NM_172201.1(KCNE2):c.209G>A (p.Ser70Asn) http://identifiers.org/clinvar/191165 ^@ NM_020639.2(RIPK4):c.1884C>T (p.Ser628=) http://identifiers.org/clinvar/191166 ^@ NM_030582.3(COL18A1):c.2878C>T (p.Gln960Ter) http://identifiers.org/clinvar/191167 ^@ NM_001848.2(COL6A1):c.128A>C (p.Asp43Ala) http://identifiers.org/clinvar/191168 ^@ NM_006031.5(PCNT):c.2374C>T (p.Arg792Ter) http://identifiers.org/clinvar/191169 ^@ NM_017929.5(PEX26):c.228C>T (p.Gly76=) http://identifiers.org/clinvar/191170 ^@ NM_001429.3(EP300):c.1092C>A (p.Cys364Ter) http://identifiers.org/clinvar/191171 ^@ NM_006953.3(UPK3A):c.53-1G>A http://identifiers.org/clinvar/191172 ^@ NM_001257988.1(TYMP):c.355G>A (p.Gly119Arg) http://identifiers.org/clinvar/191173 ^@ NM_015340.3(LARS2):c.457A>C (p.Asn153His) http://identifiers.org/clinvar/191174 ^@ NM_000258.2(MYL3):c.482-10C>T http://identifiers.org/clinvar/191175 ^@ NM_000094.3(COL7A1):c.4864G>C (p.Gly1622Arg) http://identifiers.org/clinvar/191176 ^@ NM_002292.3(LAMB2):c.5056G>T (p.Glu1686Ter) http://identifiers.org/clinvar/191177 ^@ NM_182896.2(ARL13B):c.765T>A (p.Asn255Lys) http://identifiers.org/clinvar/191178 ^@ NM_032146.5(ARL6):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/191179 ^@ NM_016247.3(IMPG2):c.3439C>T (p.Pro1147Ser) http://identifiers.org/clinvar/191180 ^@ NM_016247.3(IMPG2):c.2274G>A (p.Trp758Ter) http://identifiers.org/clinvar/191181 ^@ NM_016247.3(IMPG2):c.513T>G (p.Tyr171Ter) http://identifiers.org/clinvar/191182 ^@ NM_016247.3(IMPG2):c.380G>C (p.Arg127Pro) http://identifiers.org/clinvar/191183 ^@ NM_016247.3(IMPG2):c.101C>G (p.Ser34Cys) http://identifiers.org/clinvar/191184 ^@ NM_052985.3(IFT122):c.1868G>T (p.Gly623Val) http://identifiers.org/clinvar/191185 ^@ NM_052990.2(IFT122):c.2042+2T>C http://identifiers.org/clinvar/191186 ^@ NM_139125.3(MASP1):c.1576C>T (p.Arg526Ter) http://identifiers.org/clinvar/191187 ^@ NM_153717.2(EVC):c.770T>A (p.Leu257Gln) http://identifiers.org/clinvar/191188 ^@ NM_001080522.2(CC2D2A):c.4437+1G>A http://identifiers.org/clinvar/191189 ^@ NM_006017.2(PROM1):c.604C>G (p.Arg202Gly) http://identifiers.org/clinvar/191190 ^@ NM_025132.3(WDR19):c.2777G>T (p.Ser926Ile) http://identifiers.org/clinvar/191191 ^@ NM_001098484.2(SLC4A4):c.842A>T (p.Asp281Val) http://identifiers.org/clinvar/191192 ^@ NM_025074.6(FRAS1):c.8098+2T>A http://identifiers.org/clinvar/191193 ^@ NM_001148.4(ANK2):c.7255G>A (p.Glu2419Lys) http://identifiers.org/clinvar/191194 ^@ NM_001148.4(ANK2):c.7844C>A (p.Pro2615His) http://identifiers.org/clinvar/191195 ^@ NM_001148.4(ANK2):c.8324A>G (p.His2775Arg) http://identifiers.org/clinvar/191196 ^@ NM_002185.3(IL7R):c.636T>G (p.Tyr212Ter) http://identifiers.org/clinvar/191197 ^@ NM_000082.3(ERCC8):c.1016G>A (p.Cys339Tyr) http://identifiers.org/clinvar/191198 ^@ NM_000414.3(HSD17B4):c.367C>G (p.His123Asp) http://identifiers.org/clinvar/191199 ^@ NM_000414.3(HSD17B4):c.526A>G (p.Asn176Asp) http://identifiers.org/clinvar/191200 ^@ NM_002700.2(POU4F3):c.848C>T (p.Ala283Val) http://identifiers.org/clinvar/191201 ^@ NM_002609.3(PDGFRB):c.683G>A (p.Gly228Asp) http://identifiers.org/clinvar/191202 ^@ NM_000356.3(TCOF1):c.2425C>T (p.Gln809Ter) http://identifiers.org/clinvar/191203 ^@ NM_022455.4(NSD1):c.2058T>A (p.Tyr686Ter) http://identifiers.org/clinvar/191204 ^@ NM_145655.3(GCNT2):c.1025A>G (p.Tyr342Cys) http://identifiers.org/clinvar/191205 ^@ NM_080680.2(COL11A2):c.1607G>A (p.Arg536Gln) http://identifiers.org/clinvar/191206 ^@ NM_080680.2(COL11A2):c.654T>A (p.Tyr218Ter) http://identifiers.org/clinvar/191207 ^@ NM_003322.5(TULP1):c.1256G>A (p.Arg419Gln) http://identifiers.org/clinvar/191208 ^@ NM_000322.4(PRPH2):c.497G>A (p.Cys166Tyr) http://identifiers.org/clinvar/191209 ^@ NM_000287.3(PEX6):c.661G>T (p.Glu221Ter) http://identifiers.org/clinvar/191210 ^@ NM_014780.4(CUL7):c.4529G>T (p.Gly1510Val) http://identifiers.org/clinvar/191211 ^@ NM_014780.4(CUL7):c.2416G>A (p.Glu806Lys) http://identifiers.org/clinvar/191212 ^@ NM_138694.3(PKHD1):c.2978A>G (p.His993Arg) http://identifiers.org/clinvar/191213 ^@ NM_012434.4(SLC17A5):c.899C>T (p.Ser300Phe) http://identifiers.org/clinvar/191214 ^@ NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) http://identifiers.org/clinvar/191215 ^@ NM_015979.3(MED23):c.479T>C (p.Leu160Pro) http://identifiers.org/clinvar/191216 ^@ NM_020732.3(ARID1B):c.2444C>T (p.Ser815Leu) http://identifiers.org/clinvar/191217 ^@ NM_020732.3(ARID1B):c.5950G>T (p.Glu1984Ter) http://identifiers.org/clinvar/191218 ^@ NM_001101.3(ACTB):c.217C>G (p.His73Asp) http://identifiers.org/clinvar/191219 ^@ NM_198428.2(BBS9):c.263C>A (p.Ser88Ter) http://identifiers.org/clinvar/191220 ^@ NM_018849.2(ABCB4):c.2906G>A (p.Arg969His) http://identifiers.org/clinvar/191221 ^@ NM_000466.2(PEX1):c.2894T>C (p.Leu965Pro) http://identifiers.org/clinvar/191222 ^@ NM_000089.3(COL1A2):c.1135G>A (p.Gly379Arg) http://identifiers.org/clinvar/191223 ^@ NM_000238.3(KCNH2):c.1738G>C (p.Asp580His) http://identifiers.org/clinvar/191224 ^@ NM_006269.1(RP1):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/191225 ^@ NM_017780.3(CHD7):c.3613A>G (p.Ile1205Val) http://identifiers.org/clinvar/191226 ^@ NM_020361.4(CPA6):c.544C>T (p.Arg182Ter) http://identifiers.org/clinvar/191227 ^@ NM_018972.2(GDAP1):c.372C>G (p.Tyr124Ter) http://identifiers.org/clinvar/191228 ^@ NM_018972.2(GDAP1):c.431C>T (p.Pro144Leu) http://identifiers.org/clinvar/191229 ^@ NM_001142301.1(TMEM67):c.496C>G (p.Gln166Glu) http://identifiers.org/clinvar/191230 ^@ NM_000127.2(EXT1):c.2132G>A (p.Trp711Ter) http://identifiers.org/clinvar/191231 ^@ NM_002546.3(TNFRSF11B):c.194G>T (p.Cys65Phe) http://identifiers.org/clinvar/191232 ^@ NM_014846.3(WASHC5):c.1669G>A (p.Ala557Thr) http://identifiers.org/clinvar/191233 ^@ NM_001160372.3(TRAPPC9):c.3034C>T (p.Gln1012Ter) http://identifiers.org/clinvar/191234 ^@ NM_203447.3(DOCK8):c.1797+61A>C http://identifiers.org/clinvar/191235 ^@ NM_020944.2(GBA2):c.2548C>T (p.Arg850Cys) http://identifiers.org/clinvar/191236 ^@ NM_001701.3(BAAT):c.761C>T (p.Thr254Met) http://identifiers.org/clinvar/191237 ^@ NM_001079802.1(FKTN):c.314G>T (p.Cys105Phe) http://identifiers.org/clinvar/191238 ^@ NM_003165.3(STXBP1):c.874C>T (p.Arg292Cys) http://identifiers.org/clinvar/191239 ^@ NM_017617.4(NOTCH1):c.6253G>C (p.Ala2085Pro) http://identifiers.org/clinvar/191240 ^@ NM_017617.4(NOTCH1):c.6200T>C (p.Leu2067Pro) http://identifiers.org/clinvar/191241 ^@ NM_024757.4(EHMT1):c.611G>A (p.Arg204His) http://identifiers.org/clinvar/191242 ^@ NM_024757.4(EHMT1):c.2382+1697T>G http://identifiers.org/clinvar/191243 ^@ NM_004006.2(DMD):c.3922-3C>T http://identifiers.org/clinvar/191244 ^@ NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) http://identifiers.org/clinvar/191245 ^@ NM_000397.3(CYBB):c.34A>C (p.Ile12Leu) http://identifiers.org/clinvar/191246 ^@ NM_006915.2(RP2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/191247 ^@ NM_005183.3(CACNA1F):c.3118T>C (p.Cys1040Arg) http://identifiers.org/clinvar/191248 ^@ NM_005183.3(CACNA1F):c.209G>A (p.Arg70Gln) http://identifiers.org/clinvar/191249 ^@ NM_031407.6(HUWE1):c.10035+6G>A http://identifiers.org/clinvar/191250 ^@ NM_000489.4(ATRX):c.2102G>A (p.Arg701His) http://identifiers.org/clinvar/191251 ^@ NM_000390.3(CHM):c.1144G>T (p.Glu382Ter) http://identifiers.org/clinvar/191252 ^@ NM_001128834.2(PLP1):c.650G>A (p.Gly217Asp) http://identifiers.org/clinvar/191253 ^@ NM_001847.3(COL4A6):c.5074T>G (p.Ter1692Glu) http://identifiers.org/clinvar/191254 ^@ NM_000074.2(CD40LG):c.506A>G (p.Tyr169Cys) http://identifiers.org/clinvar/191255 ^@ NM_000074.2(CD40LG):c.719_720delAT (p.Asn240Serfs) http://identifiers.org/clinvar/191256 ^@ NM_004840.2(ARHGEF6):c.553G>A (p.Asp185Asn) http://identifiers.org/clinvar/191257 ^@ NM_001001344.2(ATP2B3):c.2434-3C>A http://identifiers.org/clinvar/191259 ^@ NM_153704.5(TMEM67):c.1413-2A>G http://identifiers.org/clinvar/191260 ^@ NM_025000.3(DCAF17):c.322-14C>T http://identifiers.org/clinvar/191261 ^@ NM_004285.3(H6PD):c.745+88T>A http://identifiers.org/clinvar/191262 ^@ NM_000350.2(ABCA4):c.1633_1634insGAAA (p.Asn545Argfs) http://identifiers.org/clinvar/191263 ^@ NM_018136.4(ASPM):c.5064delT (p.Val1689Leufs) http://identifiers.org/clinvar/191264 ^@ NM_201253.2(CRB1):c.2326_2332delACTCCAA (p.Pro777Leufs) http://identifiers.org/clinvar/191266 ^@ NM_001008211.1(OPTN):c.917_921delTGACA (p.Thr307Serfs) http://identifiers.org/clinvar/191267 ^@ NM_022124.5(CDH23):c.9057_9059delCCG (p.Arg3020del) http://identifiers.org/clinvar/191268 ^@ NM_001171971.2(CDHR1):c.708delG (p.Glu237Argfs) http://identifiers.org/clinvar/191269 ^@ NM_002860.3(ALDH18A1):c.332A>G (p.Glu111Gly) http://identifiers.org/clinvar/191270 ^@ NM_000448.2(RAG1):c.554delG (p.Lys186Serfs) http://identifiers.org/clinvar/191271 ^@ NM_000536.3(RAG2):c.1403_1406delATCT (p.His468Argfs) http://identifiers.org/clinvar/191272 ^@ NM_006946.2(SPTBN2):c.3791_3792delAA (p.Gln1264Argfs) http://identifiers.org/clinvar/191274 ^@ NM_001197104.1(KMT2A):c.7565_7568delCAGT (p.Val2523Lysfs) http://identifiers.org/clinvar/191275 ^@ NM_152722.4(HEPACAM):c.757_759delCTT (p.Leu253del) http://identifiers.org/clinvar/191276 ^@ NM_001007026.1(ATN1):c.3178C>T (p.His1060Tyr) http://identifiers.org/clinvar/191277 ^@ NM_002076.3(GNS):c.83delT (p.Leu28Argfs) http://identifiers.org/clinvar/191278 ^@ NM_025114.3(CEP290):c.3777_3778delAG (p.Arg1259Serfs) http://identifiers.org/clinvar/191279 ^@ NM_025114.3(CEP290):c.3190delA (p.Met1064Terfs) http://identifiers.org/clinvar/191280 ^@ NM_130466.3(UBE3B):c.1689_1691delCTC (p.Ser565del) http://identifiers.org/clinvar/191281 ^@ NM_024809.4(TCTN2):c.252_253delTG (p.Val85Aspfs) http://identifiers.org/clinvar/191284 ^@ NM_020366.3(RPGRIP1):c.2873delA (p.Lys959Argfs) http://identifiers.org/clinvar/191285 ^@ NM_020937.3(FANCM):c.1397-15delT http://identifiers.org/clinvar/191286 ^@ NM_000428.2(LTBP2):c.2428+5G>C http://identifiers.org/clinvar/191287 ^@ NM_013382.5(POMT2):c.1603delC (p.Gln535Serfs) http://identifiers.org/clinvar/191289 ^@ NM_000326.4(RLBP1):c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del) http://identifiers.org/clinvar/191290 ^@ NM_025193.3(HSD3B7):c.694+2del http://identifiers.org/clinvar/191291 ^@ NM_001163809.1(WDR81):c.3286C>T (p.Gln1096Ter) http://identifiers.org/clinvar/191293 ^@ NM_005208.4(CRYBA1):c.585_588delGAGA (p.Arg196Serfs) http://identifiers.org/clinvar/191294 ^@ NM_000023.3(SGCA):c.981_982insGC (p.Asp328Alafs) http://identifiers.org/clinvar/191298 ^@ NM_000554.5(CRX):c.693delC (p.Pro232Argfs) http://identifiers.org/clinvar/191299 ^@ NM_024027.4(COLEC11):c.-26-701G>C http://identifiers.org/clinvar/191300 ^@ NM_000379.3(XDH):c.3276+12A>G http://identifiers.org/clinvar/191301 ^@ NM_001039348.2(EFEMP1):c.*6delT http://identifiers.org/clinvar/191302 ^@ NM_003494.3(DYSF):c.1433delC (p.Tyr479Thrfs) http://identifiers.org/clinvar/191303 ^@ NM_015120.4(ALMS1):c.1673delT (p.Pro559Leufs) http://identifiers.org/clinvar/191304 ^@ NM_198843.2(SFTPB):c.892+16del http://identifiers.org/clinvar/191305 ^@ NM_001040142.1(SCN2A):c.1674_1677delCTTA (p.Leu559Terfs) http://identifiers.org/clinvar/191306 ^@ NM_152384.2(BBS5):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/191307 ^@ NM_152384.2(BBS5):c.951_953delAGA (p.Glu319del) http://identifiers.org/clinvar/191309 ^@ NM_025000.3(DCAF17):c.322-14delC http://identifiers.org/clinvar/191310 ^@ NM_025000.3(DCAF17):c.459-7_499del48 http://identifiers.org/clinvar/191311 ^@ NM_001267550.2(TTN):c.88613delG (p.Gly29538Valfs) http://identifiers.org/clinvar/191312 ^@ NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) http://identifiers.org/clinvar/191313 ^@ NM_000092.4(COL4A4):c.2420delG (p.Gly807Valfs) http://identifiers.org/clinvar/191315 ^@ NM_024101.6(MLPH):c.986delC (p.Lys330Serfs) http://identifiers.org/clinvar/191317 ^@ NM_030582.3(COL18A1):c.3283C>T (p.Arg1095Ter) http://identifiers.org/clinvar/191318 ^@ NM_001849.3(COL6A2):c.1997G>A (p.Ser666Asn) http://identifiers.org/clinvar/191321 ^@ NM_002292.3(LAMB2):c.374A>C (p.Gln125Pro) http://identifiers.org/clinvar/191322 ^@ NM_006005.3(WFS1):c.862G>A (p.Val288Met) http://identifiers.org/clinvar/191323 ^@ NM_025074.6(FRAS1):c.8403_8404delGT (p.Ser2802Profs) http://identifiers.org/clinvar/191324 ^@ NM_004744.4(LRAT):c.233_242delTGTTGGCCCT (p.Leu78Argfs) http://identifiers.org/clinvar/191325 ^@ NM_001199397.1(NEK1):c.1690_1691delAT (p.Met564Valfs) http://identifiers.org/clinvar/191326 ^@ NM_002185.3(IL7R):c.885delT (p.Asn295Lysfs) http://identifiers.org/clinvar/191327 ^@ NM_002310.5(LIFR):c.1121+1G>A http://identifiers.org/clinvar/191328 ^@ NM_022455.4(NSD1):c.1822delA (p.Lys608Asnfs) http://identifiers.org/clinvar/191329 ^@ NM_006772.2(SYNGAP1):c.534delG (p.Glu179Serfs) http://identifiers.org/clinvar/191330 ^@ NM_003322.5(TULP1):c.180delG (p.Lys61Serfs) http://identifiers.org/clinvar/191331 ^@ NM_014780.4(CUL7):c.263delT (p.Val88Alafs) http://identifiers.org/clinvar/191332 ^@ NM_001142800.1(EYS):c.179delT (p.Leu60Trpfs) http://identifiers.org/clinvar/191333 ^@ NM_181714.3(LCA5):c.1020delG (p.Lys340Asnfs) http://identifiers.org/clinvar/191334 ^@ NM_000426.3(LAMA2):c.1761delG (p.Ala588Leufs) http://identifiers.org/clinvar/191335 ^@ NM_000823.3(GHRHR):c.458C>A (p.Ala153Asp) http://identifiers.org/clinvar/191336 ^@ NM_000466.2(PEX1):c.2176C>T (p.Gln726Ter) http://identifiers.org/clinvar/191337 ^@ NM_000466.2(PEX1):c.657_660delGTCA (p.Ser220Ilefs) http://identifiers.org/clinvar/191338 ^@ NM_005045.3(RELN):c.7030_7031delAT (p.Met2344Alafs) http://identifiers.org/clinvar/191339 ^@ NM_000492.3(CFTR):c.1370_1378delCTGGATCCA (p.Ser459_Gly461del) http://identifiers.org/clinvar/191340 ^@ NM_004315.5(ASAH1):c.553T>C (p.Trp185Arg) http://identifiers.org/clinvar/191341 ^@ NM_006269.1(RP1):c.1717_1721delAACTC (p.Ser574Cysfs) http://identifiers.org/clinvar/191344 ^@ NM_017570.4(OPLAH):c.2303G>A (p.Arg768His) http://identifiers.org/clinvar/191345 ^@ NM_004817.3(TJP2):c.1001delG (p.Arg334Glnfs) http://identifiers.org/clinvar/191346 ^@ NM_018249.5(CDK5RAP2):c.140delT (p.Val47Glyfs) http://identifiers.org/clinvar/191350 ^@ NM_000964.3(RARA):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/191351 ^@ NM_000964.3(RARA):c.1225_1389del165 (p.Leu409_Ter463delinsProPro) http://identifiers.org/clinvar/191352 ^@ NM_000748.2(CHRNB2):c.1378C>G (p.Arg460Gly) http://identifiers.org/clinvar/191358 ^@ NM_001257965.1(CRB1):c.1252dupT (p.Ser418Phefs) http://identifiers.org/clinvar/191357 ^@ NM_001257965.1(CRB1):c.2711G>A (p.Cys904Tyr) http://identifiers.org/clinvar/191353 ^@ NM_000350.2(ABCA4):c.2927delT (p.Leu976Argfs) http://identifiers.org/clinvar/191360 ^@ NM_001029883.2(C2orf71):c.712A>T (p.Lys238Ter) http://identifiers.org/clinvar/191354 ^@ NM_000283.3(PDE6B):c.1060-1G>T http://identifiers.org/clinvar/191355 ^@ NM_006269.1(RP1):c.679T>G (p.Phe227Val) http://identifiers.org/clinvar/191356 ^@ NM_014714.3(IFT140):c.3827G>A (p.Gly1276Glu) http://identifiers.org/clinvar/191359 ^@ NM_024960.5(PANK2):c.419T>C (p.Phe140Ser) http://identifiers.org/clinvar/191361 ^@ NM_000451.3(SHOX):c.-507G>C http://identifiers.org/clinvar/191362 ^@ NM_000451.3(SHOX):c.-512C>A http://identifiers.org/clinvar/191363 ^@ NM_000451.3(SHOX):c.-646_-645insTGT http://identifiers.org/clinvar/191364 ^@ NC_012920.1:m.8969G>A http://identifiers.org/clinvar/191366 ^@ NM_015662.2(IFT172):c.4701C>A (p.His1567Gln) http://identifiers.org/clinvar/191367 ^@ NM_015662.2(IFT172):c.1525-1G>A http://identifiers.org/clinvar/191368 ^@ NM_015662.2(IFT172):c.4815T>G (p.Asp1605Glu) http://identifiers.org/clinvar/191369 ^@ NM_015662.2(IFT172):c.770T>C (p.Leu257Pro) http://identifiers.org/clinvar/191370 ^@ NM_015662.2(IFT172):c.3112-5T>A http://identifiers.org/clinvar/191371 ^@ NM_024665.5(TBL1XR1):c.209G>A (p.Gly70Asp) http://identifiers.org/clinvar/191372 ^@ NM_001282684.1(KCTD17):c.434G>A (p.Arg145His) http://identifiers.org/clinvar/191375 ^@ NM_000159.3(GCDH):c.675G>A (p.Trp225Ter) http://identifiers.org/clinvar/191374 ^@ NM_000159.3(GCDH):c.856C>T (p.Pro286Ser) http://identifiers.org/clinvar/191376 ^@ NM_000159.3(GCDH):c.885C>T (p.Tyr295=) http://identifiers.org/clinvar/191439 ^@ NM_001232.3(CASQ2):c.1186G>A (p.Asp396Asn) http://identifiers.org/clinvar/191440 ^@ NM_001232.3(CASQ2):c.1179_1181dupTGA (p.Asp398_Glu399insAsp) http://identifiers.org/clinvar/191441 ^@ NM_001232.3(CASQ2):c.1052A>G (p.Asp351Gly) http://identifiers.org/clinvar/191442 ^@ NM_001232.3(CASQ2):c.752G>A (p.Arg251His) http://identifiers.org/clinvar/191443 ^@ NM_001232.3(CASQ2):c.11C>T (p.Thr4Ile) http://identifiers.org/clinvar/191478 ^@ NM_001035.2(RYR2):c.136C>A (p.Leu46Ile) http://identifiers.org/clinvar/191479 ^@ NM_001035.2(RYR2):c.1509C>A (p.Asp503Glu) http://identifiers.org/clinvar/191480 ^@ NM_001035.2(RYR2):c.2444C>T (p.Pro815Leu) http://identifiers.org/clinvar/191544 ^@ NM_001035.2(RYR2):c.4445G>A (p.Arg1482His) http://identifiers.org/clinvar/191481 ^@ NM_001035.2(RYR2):c.4891C>T (p.His1631Tyr) http://identifiers.org/clinvar/191482 ^@ NM_001035.2(RYR2):c.5652G>T (p.Lys1884Asn) http://identifiers.org/clinvar/191575 ^@ NM_001035.2(RYR2):c.5653G>T (p.Gly1885Trp) http://identifiers.org/clinvar/191379 ^@ NM_001035.2(RYR2):c.5657dupG (p.Lys1887Glnfs) http://identifiers.org/clinvar/191483 ^@ NM_001035.2(RYR2):c.5923A>G (p.Met1975Val) http://identifiers.org/clinvar/191484 ^@ NM_001035.2(RYR2):c.6689C>T (p.Ala2230Val) http://identifiers.org/clinvar/191485 ^@ NM_001035.2(RYR2):c.7807G>A (p.Ala2603Thr) http://identifiers.org/clinvar/191486 ^@ NM_001035.2(RYR2):c.8273A>G (p.Lys2758Arg) http://identifiers.org/clinvar/191487 ^@ NM_001035.2(RYR2):c.9841T>G (p.Leu3281Val) http://identifiers.org/clinvar/191545 ^@ NM_001035.2(RYR2):c.10381A>G (p.Met3461Val) http://identifiers.org/clinvar/191488 ^@ NM_001035.2(RYR2):c.10699C>T (p.Arg3567Cys) http://identifiers.org/clinvar/191489 ^@ NM_001035.2(RYR2):c.11126A>T (p.Glu3709Val) http://identifiers.org/clinvar/191546 ^@ NM_001035.2(RYR2):c.12919C>T (p.Arg4307Cys) http://identifiers.org/clinvar/191490 ^@ NM_001035.2(RYR2):c.13267A>C (p.Lys4423Gln) http://identifiers.org/clinvar/191491 ^@ NM_001035.2(RYR2):c.13600C>T (p.Pro4534Ser) http://identifiers.org/clinvar/191492 ^@ NM_001035.2(RYR2):c.13712C>T (p.Thr4571Met) http://identifiers.org/clinvar/191445 ^@ NM_015141.3(GPD1L):c.383C>T (p.Pro128Leu) http://identifiers.org/clinvar/191446 ^@ NM_015141.3(GPD1L):c.415C>T (p.Arg139Cys) http://identifiers.org/clinvar/191447 ^@ NM_015141.3(GPD1L):c.805G>A (p.Gly269Arg) http://identifiers.org/clinvar/191448 ^@ NM_015141.3(GPD1L):c.925T>C (p.Tyr309His) http://identifiers.org/clinvar/191498 ^@ NM_198056.2(SCN5A):c.5216G>A (p.Arg1739Gln) http://identifiers.org/clinvar/191499 ^@ NM_198056.2(SCN5A):c.5213C>T (p.Ser1738Phe) http://identifiers.org/clinvar/191500 ^@ NM_198056.2(SCN5A):c.4594G>T (p.Val1532Phe) http://identifiers.org/clinvar/191501 ^@ NM_198056.2(SCN5A):c.2423G>A (p.Arg808His) http://identifiers.org/clinvar/191502 ^@ NM_198056.2(SCN5A):c.1940C>T (p.Ala647Val) http://identifiers.org/clinvar/191503 ^@ NM_198056.2(SCN5A):c.1873G>C (p.Glu625Gln) http://identifiers.org/clinvar/191381 ^@ NM_198056.2(SCN5A):c.1652C>T (p.Ala551Val) http://identifiers.org/clinvar/191504 ^@ NM_198056.2(SCN5A):c.818T>C (p.Met273Thr) http://identifiers.org/clinvar/191505 ^@ NM_198056.2(SCN5A):c.73G>A (p.Glu25Lys) http://identifiers.org/clinvar/191444 ^@ NM_033337.2(CAV3):c.294C>A (p.Cys98Ter) http://identifiers.org/clinvar/191533 ^@ NM_001148.4(ANK2):c.1177G>A (p.Ala393Thr) http://identifiers.org/clinvar/191399 ^@ NM_001148.4(ANK2):c.2110C>G (p.Gln704Glu) http://identifiers.org/clinvar/191400 ^@ NM_001148.4(ANK2):c.2234A>G (p.Asn745Ser) http://identifiers.org/clinvar/191401 ^@ NM_001148.4(ANK2):c.2474C>T (p.Thr825Ile) http://identifiers.org/clinvar/191402 ^@ NM_001148.4(ANK2):c.2902T>G (p.Phe968Val) http://identifiers.org/clinvar/191403 ^@ NM_001148.4(ANK2):c.4220A>G (p.Lys1407Arg) http://identifiers.org/clinvar/191404 ^@ NM_001148.4(ANK2):c.4408G>A (p.Asp1470Asn) http://identifiers.org/clinvar/191534 ^@ NM_001148.4(ANK2):c.4555G>T (p.Ala1519Ser) http://identifiers.org/clinvar/191535 ^@ NM_001148.4(ANK2):c.4745G>A (p.Arg1582Gln) http://identifiers.org/clinvar/191405 ^@ NM_001148.4(ANK2):c.5134C>A (p.Gln1712Lys) http://identifiers.org/clinvar/191536 ^@ NM_001148.4(ANK2):c.5371G>A (p.Val1791Ile) http://identifiers.org/clinvar/191406 ^@ NM_001148.4(ANK2):c.5806C>A (p.Arg1936Ser) http://identifiers.org/clinvar/191407 ^@ NM_001148.4(ANK2):c.5827G>A (p.Gly1943Arg) http://identifiers.org/clinvar/191408 ^@ NM_001148.4(ANK2):c.6055A>G (p.Lys2019Glu) http://identifiers.org/clinvar/191537 ^@ NM_001148.4(ANK2):c.6176C>T (p.Thr2059Met) http://identifiers.org/clinvar/191538 ^@ NM_001148.4(ANK2):c.6228G>T (p.Lys2076Asn) http://identifiers.org/clinvar/191409 ^@ NM_001148.4(ANK2):c.6533T>A (p.Phe2178Tyr) http://identifiers.org/clinvar/191558 ^@ NM_001148.4(ANK2):c.6634G>A (p.Gly2212Ser) http://identifiers.org/clinvar/191539 ^@ NM_001148.4(ANK2):c.6854T>C (p.Ile2285Thr) http://identifiers.org/clinvar/191559 ^@ NM_001148.4(ANK2):c.7007C>T (p.Ala2336Val) http://identifiers.org/clinvar/191410 ^@ NM_001148.4(ANK2):c.7436A>G (p.Lys2479Arg) http://identifiers.org/clinvar/191411 ^@ NM_001148.4(ANK2):c.7532G>A (p.Arg2511Gln) http://identifiers.org/clinvar/191412 ^@ NM_001148.4(ANK2):c.7942G>C (p.Gly2648Arg) http://identifiers.org/clinvar/191540 ^@ NM_001148.4(ANK2):c.8354C>T (p.Ser2785Leu) http://identifiers.org/clinvar/191413 ^@ NM_001148.4(ANK2):c.8381A>G (p.Gln2794Arg) http://identifiers.org/clinvar/191414 ^@ NM_001148.4(ANK2):c.8447G>A (p.Gly2816Asp) http://identifiers.org/clinvar/191560 ^@ NM_001148.4(ANK2):c.8503C>T (p.Pro2835Ser) http://identifiers.org/clinvar/191541 ^@ NM_001148.4(ANK2):c.9046G>A (p.Glu3016Lys) http://identifiers.org/clinvar/191561 ^@ NM_001148.4(ANK2):c.9061G>A (p.Ala3021Thr) http://identifiers.org/clinvar/191562 ^@ NM_001148.4(ANK2):c.9454A>G (p.Thr3152Ala) http://identifiers.org/clinvar/191563 ^@ NM_001148.4(ANK2):c.9900C>A (p.Ser3300Arg) http://identifiers.org/clinvar/191415 ^@ NM_001148.4(ANK2):c.9916G>A (p.Val3306Ile) http://identifiers.org/clinvar/191416 ^@ NM_001148.4(ANK2):c.11683G>C (p.Val3895Leu) http://identifiers.org/clinvar/191417 ^@ NM_001148.4(ANK2):c.11848G>A (p.Glu3950Lys) http://identifiers.org/clinvar/191418 ^@ NM_001127493.1(ANK2):c.*145_*147delGGA http://identifiers.org/clinvar/191469 ^@ NM_000238.3(KCNH2):c.3394C>G (p.Pro1132Ala) http://identifiers.org/clinvar/191470 ^@ NM_000238.3(KCNH2):c.2674C>T (p.Arg892Cys) http://identifiers.org/clinvar/191542 ^@ NM_000238.3(KCNH2):c.2398+178C>T http://identifiers.org/clinvar/191471 ^@ NM_000238.3(KCNH2):c.2398+156G>A http://identifiers.org/clinvar/191543 ^@ NM_000238.3(KCNH2):c.2398+16C>T http://identifiers.org/clinvar/191574 ^@ NM_000238.3(KCNH2):c.1598T>G (p.Val533Gly) http://identifiers.org/clinvar/191472 ^@ NM_000238.3(KCNH2):c.1330G>A (p.Glu444Lys) http://identifiers.org/clinvar/191473 ^@ NM_000238.3(KCNH2):c.383A>G (p.Asn128Ser) http://identifiers.org/clinvar/191549 ^@ NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) http://identifiers.org/clinvar/191382 ^@ NM_005751.4(AKAP9):c.389C>G (p.Pro130Arg) http://identifiers.org/clinvar/191513 ^@ NM_005751.4(AKAP9):c.971T>C (p.Ile324Thr) http://identifiers.org/clinvar/191550 ^@ NM_005751.4(AKAP9):c.1301G>A (p.Arg434Gln) http://identifiers.org/clinvar/191551 ^@ NM_005751.4(AKAP9):c.1372G>C (p.Ala458Pro) http://identifiers.org/clinvar/191383 ^@ NM_005751.4(AKAP9):c.1685A>G (p.His562Arg) http://identifiers.org/clinvar/191384 ^@ NM_005751.4(AKAP9):c.1742C>A (p.Ser581Tyr) http://identifiers.org/clinvar/191514 ^@ NM_005751.4(AKAP9):c.2230G>A (p.Glu744Lys) http://identifiers.org/clinvar/191515 ^@ NM_005751.4(AKAP9):c.2581T>C (p.Tyr861His) http://identifiers.org/clinvar/191552 ^@ NM_005751.4(AKAP9):c.3827G>A (p.Arg1276Gln) http://identifiers.org/clinvar/191385 ^@ NM_005751.4(AKAP9):c.3950T>C (p.Ile1317Thr) http://identifiers.org/clinvar/191386 ^@ NM_005751.4(AKAP9):c.4156G>T (p.Val1386Phe) http://identifiers.org/clinvar/191516 ^@ NM_005751.4(AKAP9):c.4190A>G (p.Gln1397Arg) http://identifiers.org/clinvar/191553 ^@ NM_005751.4(AKAP9):c.4199T>C (p.Met1400Thr) http://identifiers.org/clinvar/191517 ^@ NM_005751.4(AKAP9):c.4342A>G (p.Ile1448Val) http://identifiers.org/clinvar/191554 ^@ NM_005751.4(AKAP9):c.4519G>C (p.Asp1507His) http://identifiers.org/clinvar/191387 ^@ NM_005751.4(AKAP9):c.5234T>C (p.Val1745Ala) http://identifiers.org/clinvar/191388 ^@ NM_005751.4(AKAP9):c.5534A>G (p.Asn1845Ser) http://identifiers.org/clinvar/191389 ^@ NM_005751.4(AKAP9):c.5543C>G (p.Ser1848Cys) http://identifiers.org/clinvar/191390 ^@ NM_005751.4(AKAP9):c.5636T>C (p.Met1879Thr) http://identifiers.org/clinvar/191391 ^@ NM_005751.4(AKAP9):c.5827G>T (p.Asp1943Tyr) http://identifiers.org/clinvar/191518 ^@ NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) http://identifiers.org/clinvar/191519 ^@ NM_005751.4(AKAP9):c.6176A>G (p.Glu2059Gly) http://identifiers.org/clinvar/191520 ^@ NM_005751.4(AKAP9):c.6556T>C (p.Ser2186Pro) http://identifiers.org/clinvar/191521 ^@ NM_005751.4(AKAP9):c.7488T>G (p.Asn2496Lys) http://identifiers.org/clinvar/191392 ^@ NM_005751.4(AKAP9):c.7773A>C (p.Gln2591His) http://identifiers.org/clinvar/191393 ^@ NM_005751.4(AKAP9):c.7924_7926delAAG (p.Lys2642del) http://identifiers.org/clinvar/191522 ^@ NM_005751.4(AKAP9):c.8286A>C (p.Lys2762Asn) http://identifiers.org/clinvar/191394 ^@ NM_005751.4(AKAP9):c.8894A>G (p.Tyr2965Cys) http://identifiers.org/clinvar/191555 ^@ NM_005751.4(AKAP9):c.9092A>G (p.Gln3031Arg) http://identifiers.org/clinvar/191395 ^@ NM_005751.4(AKAP9):c.9577A>G (p.Arg3193Gly) http://identifiers.org/clinvar/191523 ^@ NM_005751.4(AKAP9):c.9763A>G (p.Arg3255Gly) http://identifiers.org/clinvar/191396 ^@ NM_005751.4(AKAP9):c.9830T>C (p.Ile3277Thr) http://identifiers.org/clinvar/191524 ^@ NM_005751.4(AKAP9):c.9929G>A (p.Arg3310Gln) http://identifiers.org/clinvar/191525 ^@ NM_005751.4(AKAP9):c.10249C>T (p.Arg3417Cys) http://identifiers.org/clinvar/191556 ^@ NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) http://identifiers.org/clinvar/191526 ^@ NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys) http://identifiers.org/clinvar/191397 ^@ NM_005751.4(AKAP9):c.10523G>A (p.Cys3508Tyr) http://identifiers.org/clinvar/191527 ^@ NM_005751.4(AKAP9):c.10672A>G (p.Ile3558Val) http://identifiers.org/clinvar/191557 ^@ NM_005751.4(AKAP9):c.10858A>G (p.Ile3620Val) http://identifiers.org/clinvar/191528 ^@ NM_005751.4(AKAP9):c.11135G>A (p.Arg3712Gln) http://identifiers.org/clinvar/191529 ^@ NM_005751.4(AKAP9):c.11229G>A (p.Met3743Ile) http://identifiers.org/clinvar/191530 ^@ NM_005751.4(AKAP9):c.11230G>T (p.Gly3744Trp) http://identifiers.org/clinvar/191531 ^@ NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His) http://identifiers.org/clinvar/191532 ^@ NM_005751.4(AKAP9):c.11362G>C (p.Val3788Leu) http://identifiers.org/clinvar/191398 ^@ NM_005751.4(AKAP9):c.11714T>C (p.Met3905Thr) http://identifiers.org/clinvar/191429 ^@ NM_201597.2(CACNB2):c.104T>C (p.Leu35Pro) http://identifiers.org/clinvar/191430 ^@ NM_201590.2(CACNB2):c.52-839_52-837del http://identifiers.org/clinvar/191431 ^@ NM_201590.2(CACNB2):c.197G>A (p.Arg66Gln) http://identifiers.org/clinvar/191432 ^@ NM_201590.2(CACNB2):c.265G>A (p.Glu89Lys) http://identifiers.org/clinvar/191568 ^@ NM_201590.2(CACNB2):c.642+653G>A http://identifiers.org/clinvar/191433 ^@ NM_201590.2(CACNB2):c.662A>G (p.Tyr221Cys) http://identifiers.org/clinvar/191434 ^@ NM_201590.2(CACNB2):c.931G>T (p.Ala311Ser) http://identifiers.org/clinvar/191435 ^@ NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA http://identifiers.org/clinvar/191436 ^@ NM_201590.2(CACNB2):c.1396C>G (p.Pro466Ala) http://identifiers.org/clinvar/191569 ^@ NM_201590.2(CACNB2):c.1654C>G (p.Arg552Gly) http://identifiers.org/clinvar/191437 ^@ NM_201590.2(CACNB2):c.1730A>G (p.Lys577Arg) http://identifiers.org/clinvar/191380 ^@ NM_174934.3(SCN4B):c.617C>T (p.Ser206Leu) http://identifiers.org/clinvar/191547 ^@ NM_174934.3(SCN4B):c.607G>A (p.Val203Met) http://identifiers.org/clinvar/191497 ^@ NM_174934.3(SCN4B):c.112G>C (p.Ala38Pro) http://identifiers.org/clinvar/191493 ^@ NM_004588.4(SCN2B):c.629C>T (p.Pro210Leu) http://identifiers.org/clinvar/191494 ^@ NM_004588.4(SCN2B):c.118G>A (p.Val40Ile) http://identifiers.org/clinvar/191495 ^@ NM_004588.4(SCN2B):c.44C>T (p.Thr15Met) http://identifiers.org/clinvar/191496 ^@ NM_018400.3(SCN3B):c.217C>A (p.Leu73Ile) http://identifiers.org/clinvar/191476 ^@ NM_000218.2(KCNQ1):c.590C>T (p.Pro197Leu) http://identifiers.org/clinvar/191477 ^@ NM_000218.2(KCNQ1):c.721G>A (p.Val241Ile) http://identifiers.org/clinvar/191468 ^@ NM_005472.4(KCNE3):c.215T>G (p.Val72Gly) http://identifiers.org/clinvar/191419 ^@ NM_000719.6(CACNA1C):c.1031C>T (p.Thr344Ile) http://identifiers.org/clinvar/191420 ^@ NM_000719.6(CACNA1C):c.1114-355G>A http://identifiers.org/clinvar/191564 ^@ NM_000719.6(CACNA1C):c.1391-2484C>T http://identifiers.org/clinvar/191421 ^@ NM_000719.6(CACNA1C):c.1481+621C>T http://identifiers.org/clinvar/191422 ^@ NM_000719.6(CACNA1C):c.2734C>A (p.Leu912Ile) http://identifiers.org/clinvar/191423 ^@ NM_000719.6(CACNA1C):c.3946-51C>T http://identifiers.org/clinvar/191424 ^@ NM_000719.6(CACNA1C):c.5329C>T (p.Arg1777Cys) http://identifiers.org/clinvar/191565 ^@ NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) http://identifiers.org/clinvar/191425 ^@ NM_000719.6(CACNA1C):c.5408G>C (p.Arg1803Pro) http://identifiers.org/clinvar/191426 ^@ NM_000719.6(CACNA1C):c.5444+599C>A http://identifiers.org/clinvar/191566 ^@ NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) http://identifiers.org/clinvar/191567 ^@ NM_000719.6(CACNA1C):c.5609C>T (p.Thr1870Met) http://identifiers.org/clinvar/191427 ^@ NM_000719.6(CACNA1C):c.5731G>C (p.Gly1911Arg) http://identifiers.org/clinvar/191428 ^@ NM_000719.6(CACNA1C):c.6344G>C (p.Gly2115Ala) http://identifiers.org/clinvar/191456 ^@ NM_002234.3(KCNA5):c.251A>C (p.Glu84Ala) http://identifiers.org/clinvar/191457 ^@ NM_002234.3(KCNA5):c.464A>G (p.Tyr155Cys) http://identifiers.org/clinvar/191458 ^@ NM_002234.3(KCNA5):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/191459 ^@ NM_002234.3(KCNA5):c.633G>C (p.Glu211Asp) http://identifiers.org/clinvar/191460 ^@ NM_002234.3(KCNA5):c.634C>T (p.Arg212Cys) http://identifiers.org/clinvar/191461 ^@ NM_002234.3(KCNA5):c.701G>T (p.Arg234Leu) http://identifiers.org/clinvar/191570 ^@ NM_002234.3(KCNA5):c.751G>A (p.Ala251Thr) http://identifiers.org/clinvar/191462 ^@ NM_002234.3(KCNA5):c.898G>A (p.Gly300Ser) http://identifiers.org/clinvar/191463 ^@ NM_002234.3(KCNA5):c.919C>T (p.Pro307Ser) http://identifiers.org/clinvar/191571 ^@ NM_002234.3(KCNA5):c.929C>T (p.Pro310Leu) http://identifiers.org/clinvar/191464 ^@ NM_002234.3(KCNA5):c.966C>G (p.Asp322Glu) http://identifiers.org/clinvar/191572 ^@ NM_002234.3(KCNA5):c.1150G>A (p.Gly384Arg) http://identifiers.org/clinvar/191573 ^@ NM_002234.3(KCNA5):c.1733G>A (p.Arg578Lys) http://identifiers.org/clinvar/191449 ^@ NM_005477.2(HCN4):c.3577G>C (p.Glu1193Gln) http://identifiers.org/clinvar/191377 ^@ NM_005477.2(HCN4):c.3498_3501delTTTG (p.Phe1168Glyfs) http://identifiers.org/clinvar/191450 ^@ NM_005477.2(HCN4):c.3461G>A (p.Arg1154Gln) http://identifiers.org/clinvar/191451 ^@ NM_005477.2(HCN4):c.2545G>T (p.Val849Leu) http://identifiers.org/clinvar/191452 ^@ NM_005477.2(HCN4):c.2194G>A (p.Gly732Ser) http://identifiers.org/clinvar/191453 ^@ NM_005477.2(HCN4):c.1896G>A (p.Met632Ile) http://identifiers.org/clinvar/191454 ^@ NM_005477.2(HCN4):c.1840G>A (p.Glu614Lys) http://identifiers.org/clinvar/191455 ^@ NM_005477.2(HCN4):c.569T>A (p.Val190Glu) http://identifiers.org/clinvar/191474 ^@ NM_000891.2(KCNJ2):c.884T>C (p.Val295Ala) http://identifiers.org/clinvar/191475 ^@ NM_000891.2(KCNJ2):c.1217T>C (p.Ile406Thr) http://identifiers.org/clinvar/191506 ^@ NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) http://identifiers.org/clinvar/191507 ^@ NM_003098.2(SNTA1):c.1330G>A (p.Val444Met) http://identifiers.org/clinvar/191508 ^@ NM_003098.2(SNTA1):c.1057C>G (p.Pro353Ala) http://identifiers.org/clinvar/191509 ^@ NM_003098.2(SNTA1):c.845T>A (p.Leu282Gln) http://identifiers.org/clinvar/191548 ^@ NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) http://identifiers.org/clinvar/191510 ^@ NM_003098.2(SNTA1):c.544G>A (p.Gly182Arg) http://identifiers.org/clinvar/191511 ^@ NM_003098.2(SNTA1):c.460G>A (p.Val154Ile) http://identifiers.org/clinvar/191512 ^@ NM_003098.2(SNTA1):c.375G>C (p.Gln125His) http://identifiers.org/clinvar/191576 ^@ NM_003098.2(SNTA1):c.317G>A (p.Arg106Gln) http://identifiers.org/clinvar/191467 ^@ NM_172201.1(KCNE2):c.357C>A (p.Phe119Leu) http://identifiers.org/clinvar/191465 ^@ NM_000219.5(KCNE1):c.109A>G (p.Ser37Gly) http://identifiers.org/clinvar/191466 ^@ NM_000219.5(KCNE1):c.94C>T (p.Arg32Cys) http://identifiers.org/clinvar/192190 ^@ NM_005572.3(LMNA):c.357-739T>G http://identifiers.org/clinvar/191701 ^@ NM_005572.3(LMNA):c.730G>A (p.Ala244Thr) http://identifiers.org/clinvar/191702 ^@ NM_005572.3(LMNA):c.1017G>A (p.Ala339=) http://identifiers.org/clinvar/191800 ^@ NM_001001430.2(TNNT2):c.722A>G (p.Tyr241Cys) http://identifiers.org/clinvar/191768 ^@ NM_000447.2(PSEN2):c.25A>G (p.Ser9Gly) http://identifiers.org/clinvar/191769 ^@ NM_000447.2(PSEN2):c.49C>T (p.Arg17Trp) http://identifiers.org/clinvar/191770 ^@ NM_000447.2(PSEN2):c.166G>A (p.Gly56Ser) http://identifiers.org/clinvar/191771 ^@ NM_000447.2(PSEN2):c.205C>G (p.Pro69Ala) http://identifiers.org/clinvar/192129 ^@ NM_000447.2(PSEN2):c.208G>A (p.Gly70Arg) http://identifiers.org/clinvar/192130 ^@ NM_000447.2(PSEN2):c.211C>T (p.Arg71Trp) http://identifiers.org/clinvar/191772 ^@ NM_000447.2(PSEN2):c.710C>T (p.Ala237Val) http://identifiers.org/clinvar/191773 ^@ NM_000447.2(PSEN2):c.1139C>A (p.Thr380Lys) http://identifiers.org/clinvar/191592 ^@ NM_001103.3(ACTN2):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/191593 ^@ NM_001103.3(ACTN2):c.1312C>T (p.Arg438Trp) http://identifiers.org/clinvar/191594 ^@ NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) http://identifiers.org/clinvar/192111 ^@ NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) http://identifiers.org/clinvar/191595 ^@ NM_001103.3(ACTN2):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/191596 ^@ NM_001103.3(ACTN2):c.1532T>C (p.Leu511Pro) http://identifiers.org/clinvar/191597 ^@ NM_001103.3(ACTN2):c.1586A>G (p.Asn529Ser) http://identifiers.org/clinvar/191598 ^@ NM_001103.3(ACTN2):c.1594A>T (p.Met532Leu) http://identifiers.org/clinvar/191599 ^@ NM_001103.3(ACTN2):c.2419G>C (p.Gly807Arg) http://identifiers.org/clinvar/191600 ^@ NM_001103.3(ACTN2):c.2552G>A (p.Arg851His) http://identifiers.org/clinvar/191601 ^@ NM_001103.3(ACTN2):c.2659G>A (p.Ala887Thr) http://identifiers.org/clinvar/191803 ^@ NM_001267550.2(TTN):c.107971delA (p.Ile35991Phefs) http://identifiers.org/clinvar/191804 ^@ NM_133378.4(TTN):c.99526A>G (p.Ile33176Val) http://identifiers.org/clinvar/191805 ^@ NM_133378.4(TTN):c.99511A>C (p.Asn33171His) http://identifiers.org/clinvar/191806 ^@ NM_133378.4(TTN):c.99385G>C (p.Glu33129Gln) http://identifiers.org/clinvar/191807 ^@ NM_133378.4(TTN):c.99313G>A (p.Gly33105Arg) http://identifiers.org/clinvar/192135 ^@ NM_133378.4(TTN):c.98971G>C (p.Glu32991Gln) http://identifiers.org/clinvar/191808 ^@ NM_133378.4(TTN):c.98763T>C (p.Leu32921=) http://identifiers.org/clinvar/191809 ^@ NM_133378.4(TTN):c.98639G>A (p.Arg32880Gln) http://identifiers.org/clinvar/192136 ^@ NM_133378.4(TTN):c.98416T>A (p.Phe32806Ile) http://identifiers.org/clinvar/191810 ^@ NM_133378.4(TTN):c.98324A>G (p.Glu32775Gly) http://identifiers.org/clinvar/192195 ^@ NM_133378.4(TTN):c.98077C>T (p.Pro32693Ser) http://identifiers.org/clinvar/191811 ^@ NM_133378.4(TTN):c.97786C>T (p.Arg32596Cys) http://identifiers.org/clinvar/191812 ^@ NM_133378.4(TTN):c.97424G>A (p.Arg32475His) http://identifiers.org/clinvar/191813 ^@ NM_133378.4(TTN):c.97332C>T (p.Tyr32444=) http://identifiers.org/clinvar/191814 ^@ NM_133378.4(TTN):c.96521G>A (p.Ser32174Asn) http://identifiers.org/clinvar/191815 ^@ NM_133378.4(TTN):c.96291C>G (p.Leu32097=) http://identifiers.org/clinvar/191816 ^@ NM_001267550.2(TTN):c.103921_103923delTCT (p.Ser34641del) http://identifiers.org/clinvar/191817 ^@ NM_133378.4(TTN):c.96208C>T (p.Arg32070Cys) http://identifiers.org/clinvar/191818 ^@ NM_133378.4(TTN):c.95932C>T (p.Arg31978Cys) http://identifiers.org/clinvar/191819 ^@ NM_133378.4(TTN):c.95708G>A (p.Arg31903Gln) http://identifiers.org/clinvar/192196 ^@ NM_133378.4(TTN):c.95128G>T (p.Gly31710Ter) http://identifiers.org/clinvar/191820 ^@ NM_133378.4(TTN):c.95123G>A (p.Arg31708Gln) http://identifiers.org/clinvar/192137 ^@ NM_133378.4(TTN):c.95046A>G (p.Thr31682=) http://identifiers.org/clinvar/191821 ^@ NM_133378.4(TTN):c.94621G>A (p.Ala31541Thr) http://identifiers.org/clinvar/191822 ^@ NM_133378.4(TTN):c.94571G>A (p.Arg31524His) http://identifiers.org/clinvar/192138 ^@ NM_133378.4(TTN):c.94566C>T (p.His31522=) http://identifiers.org/clinvar/191823 ^@ NM_133378.4(TTN):c.94004G>A (p.Arg31335His) http://identifiers.org/clinvar/191824 ^@ NM_133378.4(TTN):c.93576C>T (p.Phe31192=) http://identifiers.org/clinvar/191825 ^@ NM_133378.4(TTN):c.93532C>T (p.Arg31178Cys) http://identifiers.org/clinvar/192197 ^@ NM_133378.4(TTN):c.93507C>T (p.Leu31169=) http://identifiers.org/clinvar/191826 ^@ NM_133378.4(TTN):c.93294C>G (p.Phe31098Leu) http://identifiers.org/clinvar/191827 ^@ NM_133378.4(TTN):c.93278G>A (p.Arg31093Lys) http://identifiers.org/clinvar/191828 ^@ NM_133378.4(TTN):c.93179C>T (p.Thr31060Ile) http://identifiers.org/clinvar/191829 ^@ NM_133378.4(TTN):c.92522G>A (p.Cys30841Tyr) http://identifiers.org/clinvar/191830 ^@ NM_133378.4(TTN):c.92497A>G (p.Ile30833Val) http://identifiers.org/clinvar/192198 ^@ NM_133378.4(TTN):c.92391G>A (p.Arg30797=) http://identifiers.org/clinvar/191831 ^@ NM_133378.4(TTN):c.92064G>T (p.Met30688Ile) http://identifiers.org/clinvar/191832 ^@ NM_133378.4(TTN):c.91397G>C (p.Trp30466Ser) http://identifiers.org/clinvar/191833 ^@ NM_133378.4(TTN):c.91366T>G (p.Cys30456Gly) http://identifiers.org/clinvar/191834 ^@ NM_133378.4(TTN):c.91312G>A (p.Glu30438Lys) http://identifiers.org/clinvar/191835 ^@ NM_133378.4(TTN):c.91189G>C (p.Asp30397His) http://identifiers.org/clinvar/191836 ^@ NM_133378.4(TTN):c.91055G>A (p.Arg30352Gln) http://identifiers.org/clinvar/191837 ^@ NM_133378.4(TTN):c.90937C>T (p.Pro30313Ser) http://identifiers.org/clinvar/191838 ^@ NM_133378.4(TTN):c.90820G>A (p.Ala30274Thr) http://identifiers.org/clinvar/191839 ^@ NM_133378.4(TTN):c.90808G>C (p.Val30270Leu) http://identifiers.org/clinvar/192139 ^@ NM_133378.4(TTN):c.90796G>A (p.Glu30266Lys) http://identifiers.org/clinvar/192199 ^@ NM_133378.4(TTN):c.90685A>G (p.Asn30229Asp) http://identifiers.org/clinvar/192140 ^@ NM_133378.4(TTN):c.89834G>A (p.Arg29945His) http://identifiers.org/clinvar/191840 ^@ NM_133378.4(TTN):c.89737G>A (p.Gly29913Arg) http://identifiers.org/clinvar/192141 ^@ NM_133378.4(TTN):c.89730C>A (p.Asn29910Lys) http://identifiers.org/clinvar/191841 ^@ NM_133378.4(TTN):c.89627G>C (p.Arg29876Pro) http://identifiers.org/clinvar/192142 ^@ NM_133378.4(TTN):c.89394C>T (p.Ile29798=) http://identifiers.org/clinvar/191842 ^@ NM_133378.4(TTN):c.88353T>A (p.Asp29451Glu) http://identifiers.org/clinvar/191843 ^@ NM_133378.4(TTN):c.88333G>C (p.Asp29445His) http://identifiers.org/clinvar/191844 ^@ NM_133378.4(TTN):c.88023C>T (p.Thr29341=) http://identifiers.org/clinvar/191845 ^@ NM_133378.4(TTN):c.87616A>G (p.Lys29206Glu) http://identifiers.org/clinvar/191846 ^@ NM_133378.4(TTN):c.87482G>C (p.Trp29161Ser) http://identifiers.org/clinvar/191847 ^@ NM_133378.4(TTN):c.87314C>T (p.Ala29105Val) http://identifiers.org/clinvar/191848 ^@ NM_133378.4(TTN):c.86669A>G (p.Glu28890Gly) http://identifiers.org/clinvar/191849 ^@ NM_133378.4(TTN):c.86464G>A (p.Gly28822Ser) http://identifiers.org/clinvar/191850 ^@ NM_133378.4(TTN):c.86312C>T (p.Thr28771Ile) http://identifiers.org/clinvar/191851 ^@ NM_133378.4(TTN):c.85930G>A (p.Glu28644Lys) http://identifiers.org/clinvar/191852 ^@ NM_133378.4(TTN):c.85463G>A (p.Arg28488Gln) http://identifiers.org/clinvar/192143 ^@ NM_133378.4(TTN):c.85301G>T (p.Ser28434Ile) http://identifiers.org/clinvar/191853 ^@ NM_133378.4(TTN):c.85220C>A (p.Thr28407Lys) http://identifiers.org/clinvar/191854 ^@ NM_133378.4(TTN):c.84305T>C (p.Ile28102Thr) http://identifiers.org/clinvar/192200 ^@ NM_133378.4(TTN):c.84232A>G (p.Asn28078Asp) http://identifiers.org/clinvar/192201 ^@ NM_133378.4(TTN):c.83868A>G (p.Pro27956=) http://identifiers.org/clinvar/191855 ^@ NM_133378.4(TTN):c.83866C>T (p.Pro27956Ser) http://identifiers.org/clinvar/192144 ^@ NM_133378.4(TTN):c.83468A>C (p.Glu27823Ala) http://identifiers.org/clinvar/191856 ^@ NM_001267550.2(TTN):c.90756_90758delTGG (p.Asn30252_Gly30253delinsLys) http://identifiers.org/clinvar/191857 ^@ NM_133378.4(TTN):c.82818A>G (p.Glu27606=) http://identifiers.org/clinvar/191858 ^@ NM_133378.4(TTN):c.82004C>G (p.Thr27335Ser) http://identifiers.org/clinvar/191859 ^@ NM_133378.4(TTN):c.81775C>A (p.Pro27259Thr) http://identifiers.org/clinvar/191860 ^@ NM_133378.4(TTN):c.81610G>A (p.Glu27204Lys) http://identifiers.org/clinvar/192145 ^@ NM_133378.4(TTN):c.81267A>G (p.Pro27089=) http://identifiers.org/clinvar/191861 ^@ NM_133378.4(TTN):c.81083C>G (p.Thr27028Ser) http://identifiers.org/clinvar/192146 ^@ NM_133378.4(TTN):c.81029G>A (p.Arg27010His) http://identifiers.org/clinvar/191862 ^@ NM_133378.4(TTN):c.80605G>A (p.Gly26869Ser) http://identifiers.org/clinvar/191863 ^@ NM_133378.4(TTN):c.80581A>G (p.Ile26861Val) http://identifiers.org/clinvar/192147 ^@ NM_133378.4(TTN):c.80172C>T (p.Ile26724=) http://identifiers.org/clinvar/191864 ^@ NM_133378.4(TTN):c.79792G>A (p.Gly26598Ser) http://identifiers.org/clinvar/191865 ^@ NM_133378.4(TTN):c.79231G>A (p.Val26411Ile) http://identifiers.org/clinvar/191866 ^@ NM_133378.4(TTN):c.79036A>T (p.Ile26346Phe) http://identifiers.org/clinvar/191867 ^@ NM_133378.4(TTN):c.78998G>A (p.Arg26333His) http://identifiers.org/clinvar/191868 ^@ NM_133378.4(TTN):c.78950G>A (p.Arg26317His) http://identifiers.org/clinvar/192148 ^@ NM_133378.4(TTN):c.78730A>G (p.Ile26244Val) http://identifiers.org/clinvar/192149 ^@ NM_133378.4(TTN):c.77947C>A (p.Pro25983Thr) http://identifiers.org/clinvar/191869 ^@ NM_133378.4(TTN):c.77920A>G (p.Ile25974Val) http://identifiers.org/clinvar/191870 ^@ NM_133378.4(TTN):c.77167C>T (p.Arg25723Cys) http://identifiers.org/clinvar/191871 ^@ NM_133378.4(TTN):c.76483C>T (p.Arg25495Cys) http://identifiers.org/clinvar/191872 ^@ NM_133378.4(TTN):c.76147G>C (p.Gly25383Arg) http://identifiers.org/clinvar/191873 ^@ NM_133378.4(TTN):c.76081G>A (p.Gly25361Arg) http://identifiers.org/clinvar/191874 ^@ NM_133378.4(TTN):c.75524G>A (p.Arg25175Gln) http://identifiers.org/clinvar/191875 ^@ NM_133378.4(TTN):c.75359G>A (p.Arg25120His) http://identifiers.org/clinvar/191876 ^@ NM_133378.4(TTN):c.74984G>A (p.Arg24995His) http://identifiers.org/clinvar/191877 ^@ NM_133378.4(TTN):c.74905G>T (p.Gly24969Cys) http://identifiers.org/clinvar/191878 ^@ NM_133378.4(TTN):c.74876T>C (p.Leu24959Pro) http://identifiers.org/clinvar/191879 ^@ NM_133378.4(TTN):c.74701C>G (p.Pro24901Ala) http://identifiers.org/clinvar/191880 ^@ NM_133378.4(TTN):c.74531C>A (p.Thr24844Lys) http://identifiers.org/clinvar/191881 ^@ NM_133378.4(TTN):c.74450A>G (p.Glu24817Gly) http://identifiers.org/clinvar/191882 ^@ NM_133378.4(TTN):c.74233G>A (p.Gly24745Arg) http://identifiers.org/clinvar/191883 ^@ NM_133378.4(TTN):c.74193C>T (p.Ile24731=) http://identifiers.org/clinvar/192150 ^@ NM_133378.4(TTN):c.74188G>A (p.Asp24730Asn) http://identifiers.org/clinvar/191884 ^@ NM_133378.4(TTN):c.74164G>C (p.Gly24722Arg) http://identifiers.org/clinvar/191885 ^@ NM_133378.4(TTN):c.73334G>A (p.Arg24445Gln) http://identifiers.org/clinvar/191886 ^@ NM_133378.4(TTN):c.73201G>A (p.Val24401Ile) http://identifiers.org/clinvar/192202 ^@ NM_133378.4(TTN):c.72996A>G (p.Glu24332=) http://identifiers.org/clinvar/191887 ^@ NM_133378.4(TTN):c.72851G>A (p.Arg24284His) http://identifiers.org/clinvar/191888 ^@ NM_133378.4(TTN):c.72516A>G (p.Thr24172=) http://identifiers.org/clinvar/192203 ^@ NM_133378.4(TTN):c.72158C>A (p.Thr24053Lys) http://identifiers.org/clinvar/192151 ^@ NM_133378.4(TTN):c.71995A>G (p.Asn23999Asp) http://identifiers.org/clinvar/192152 ^@ NM_133378.4(TTN):c.71908A>G (p.Thr23970Ala) http://identifiers.org/clinvar/192204 ^@ NM_133378.4(TTN):c.71613C>T (p.Arg23871=) http://identifiers.org/clinvar/191889 ^@ NM_133378.4(TTN):c.71509G>A (p.Val23837Ile) http://identifiers.org/clinvar/191890 ^@ NM_133378.4(TTN):c.71507C>T (p.Thr23836Ile) http://identifiers.org/clinvar/191891 ^@ NM_133378.4(TTN):c.70317G>A (p.Met23439Ile) http://identifiers.org/clinvar/192205 ^@ NM_133378.4(TTN):c.69574A>G (p.Asn23192Asp) http://identifiers.org/clinvar/192153 ^@ NM_133378.4(TTN):c.69512C>G (p.Ala23171Gly) http://identifiers.org/clinvar/192154 ^@ NM_133378.4(TTN):c.69283G>A (p.Asp23095Asn) http://identifiers.org/clinvar/192155 ^@ NM_133378.4(TTN):c.69035C>A (p.Thr23012Lys) http://identifiers.org/clinvar/191892 ^@ NM_133378.4(TTN):c.68834A>C (p.Asp22945Ala) http://identifiers.org/clinvar/191893 ^@ NM_133378.4(TTN):c.68718G>T (p.Lys22906Asn) http://identifiers.org/clinvar/191894 ^@ NM_133378.4(TTN):c.68278C>A (p.Pro22760Thr) http://identifiers.org/clinvar/192156 ^@ NM_133378.4(TTN):c.68040C>T (p.Ser22680=) http://identifiers.org/clinvar/192157 ^@ NM_133378.4(TTN):c.67190A>C (p.Gln22397Pro) http://identifiers.org/clinvar/191895 ^@ NM_133378.4(TTN):c.67155C>T (p.Ile22385=) http://identifiers.org/clinvar/192158 ^@ NM_133378.4(TTN):c.66800A>G (p.Tyr22267Cys) http://identifiers.org/clinvar/191896 ^@ NM_133378.4(TTN):c.65539G>C (p.Gly21847Arg) http://identifiers.org/clinvar/191897 ^@ NM_133378.4(TTN):c.65300C>T (p.Thr21767Ile) http://identifiers.org/clinvar/191898 ^@ NM_133378.4(TTN):c.65119A>T (p.Lys21707Ter) http://identifiers.org/clinvar/191899 ^@ NM_133378.4(TTN):c.65099G>A (p.Arg21700His) http://identifiers.org/clinvar/191900 ^@ NM_133378.4(TTN):c.65009C>T (p.Ser21670Leu) http://identifiers.org/clinvar/191901 ^@ NM_133378.4(TTN):c.64890G>A (p.Met21630Ile) http://identifiers.org/clinvar/191902 ^@ NM_133378.4(TTN):c.64476A>G (p.Thr21492=) http://identifiers.org/clinvar/191903 ^@ NM_133378.4(TTN):c.64442T>C (p.Leu21481Pro) http://identifiers.org/clinvar/191904 ^@ NM_133378.4(TTN):c.64240A>G (p.Asn21414Asp) http://identifiers.org/clinvar/192159 ^@ NM_133378.4(TTN):c.63332G>A (p.Arg21111Lys) http://identifiers.org/clinvar/191905 ^@ NM_133378.4(TTN):c.63275G>A (p.Arg21092Gln) http://identifiers.org/clinvar/191906 ^@ NM_133378.4(TTN):c.62468T>C (p.Ile20823Thr) http://identifiers.org/clinvar/191907 ^@ NM_133378.4(TTN):c.62338G>A (p.Ala20780Thr) http://identifiers.org/clinvar/192160 ^@ NM_133378.4(TTN):c.62116G>A (p.Gly20706Ser) http://identifiers.org/clinvar/192206 ^@ NM_133378.4(TTN):c.62035C>T (p.Pro20679Ser) http://identifiers.org/clinvar/191908 ^@ NM_133378.4(TTN):c.61946A>C (p.Glu20649Ala) http://identifiers.org/clinvar/191909 ^@ NM_133378.4(TTN):c.61634G>A (p.Arg20545Gln) http://identifiers.org/clinvar/192207 ^@ NM_133378.4(TTN):c.61440A>G (p.Glu20480=) http://identifiers.org/clinvar/192208 ^@ NM_133378.4(TTN):c.61425C>T (p.Pro20475=) http://identifiers.org/clinvar/191910 ^@ NM_133378.4(TTN):c.61120+1G>A http://identifiers.org/clinvar/192209 ^@ NM_133378.4(TTN):c.60753G>C (p.Met20251Ile) http://identifiers.org/clinvar/191911 ^@ NM_133378.4(TTN):c.60457G>A (p.Glu20153Lys) http://identifiers.org/clinvar/191912 ^@ NM_133378.4(TTN):c.60374C>T (p.Thr20125Met) http://identifiers.org/clinvar/191913 ^@ NM_133378.4(TTN):c.60361A>G (p.Asn20121Asp) http://identifiers.org/clinvar/191914 ^@ NM_133378.4(TTN):c.59618A>G (p.Glu19873Gly) http://identifiers.org/clinvar/191915 ^@ NM_133378.4(TTN):c.59576G>A (p.Arg19859Gln) http://identifiers.org/clinvar/192161 ^@ NM_133378.4(TTN):c.59272A>G (p.Lys19758Glu) http://identifiers.org/clinvar/191916 ^@ NM_133378.4(TTN):c.59232A>T (p.Ser19744=) http://identifiers.org/clinvar/191917 ^@ NM_133378.4(TTN):c.58682G>A (p.Arg19561His) http://identifiers.org/clinvar/191918 ^@ NM_133378.4(TTN):c.58511T>G (p.Met19504Arg) http://identifiers.org/clinvar/191919 ^@ NM_133378.4(TTN):c.58096T>G (p.Tyr19366Asp) http://identifiers.org/clinvar/191920 ^@ NM_133378.4(TTN):c.57829C>T (p.Pro19277Ser) http://identifiers.org/clinvar/191921 ^@ NM_133378.4(TTN):c.56967G>A (p.Met18989Ile) http://identifiers.org/clinvar/191922 ^@ NM_133378.4(TTN):c.56479G>T (p.Gly18827Cys) http://identifiers.org/clinvar/191923 ^@ NM_133378.4(TTN):c.56173G>A (p.Asp18725Asn) http://identifiers.org/clinvar/191924 ^@ NM_133378.4(TTN):c.55999A>C (p.Asn18667His) http://identifiers.org/clinvar/191925 ^@ NM_133378.4(TTN):c.55913T>C (p.Val18638Ala) http://identifiers.org/clinvar/191926 ^@ NM_133378.4(TTN):c.55676G>A (p.Arg18559His) http://identifiers.org/clinvar/191927 ^@ NM_133378.4(TTN):c.55391A>G (p.His18464Arg) http://identifiers.org/clinvar/191928 ^@ NM_133378.4(TTN):c.55051T>C (p.Leu18351=) http://identifiers.org/clinvar/191929 ^@ NM_133378.4(TTN):c.54121C>T (p.Arg18041Cys) http://identifiers.org/clinvar/191930 ^@ NM_133378.4(TTN):c.53228G>A (p.Arg17743Gln) http://identifiers.org/clinvar/192162 ^@ NM_133378.4(TTN):c.53116C>T (p.Pro17706Ser) http://identifiers.org/clinvar/191931 ^@ NM_133378.4(TTN):c.52084A>G (p.Thr17362Ala) http://identifiers.org/clinvar/192210 ^@ NM_133378.4(TTN):c.51880C>T (p.Pro17294Ser) http://identifiers.org/clinvar/191932 ^@ NM_133378.4(TTN):c.51697G>A (p.Gly17233Ser) http://identifiers.org/clinvar/192163 ^@ NM_133378.4(TTN):c.50872G>A (p.Val16958Ile) http://identifiers.org/clinvar/191933 ^@ NM_133378.4(TTN):c.50647C>T (p.Arg16883Cys) http://identifiers.org/clinvar/192164 ^@ NM_133378.4(TTN):c.50104G>C (p.Val16702Leu) http://identifiers.org/clinvar/191934 ^@ NM_133378.4(TTN):c.50077G>A (p.Glu16693Lys) http://identifiers.org/clinvar/191935 ^@ NM_133378.4(TTN):c.49738A>G (p.Met16580Val) http://identifiers.org/clinvar/191936 ^@ NM_133378.4(TTN):c.49672T>G (p.Trp16558Gly) http://identifiers.org/clinvar/191937 ^@ NM_133378.4(TTN):c.49538T>C (p.Ile16513Thr) http://identifiers.org/clinvar/191938 ^@ NM_133378.4(TTN):c.48982G>A (p.Val16328Met) http://identifiers.org/clinvar/191939 ^@ NM_133378.4(TTN):c.48551C>T (p.Pro16184Leu) http://identifiers.org/clinvar/191940 ^@ NM_133378.4(TTN):c.47951G>A (p.Arg15984His) http://identifiers.org/clinvar/191941 ^@ NM_133378.4(TTN):c.47692G>A (p.Gly15898Arg) http://identifiers.org/clinvar/191942 ^@ NM_133378.4(TTN):c.47650T>C (p.Ser15884Pro) http://identifiers.org/clinvar/191943 ^@ NM_133378.4(TTN):c.47036T>C (p.Met15679Thr) http://identifiers.org/clinvar/191944 ^@ NM_133378.4(TTN):c.47006T>C (p.Leu15669Pro) http://identifiers.org/clinvar/191945 ^@ NM_133378.4(TTN):c.46877G>A (p.Gly15626Asp) http://identifiers.org/clinvar/191946 ^@ NM_133378.4(TTN):c.46051A>G (p.Thr15351Ala) http://identifiers.org/clinvar/191947 ^@ NM_133378.4(TTN):c.46004G>A (p.Arg15335His) http://identifiers.org/clinvar/191948 ^@ NM_133378.4(TTN):c.44848C>T (p.Arg14950Cys) http://identifiers.org/clinvar/191949 ^@ NM_133378.4(TTN):c.44324A>T (p.Asp14775Val) http://identifiers.org/clinvar/191950 ^@ NM_133378.4(TTN):c.41663G>A (p.Arg13888His) http://identifiers.org/clinvar/191951 ^@ NM_133378.4(TTN):c.41503T>C (p.Ser13835Pro) http://identifiers.org/clinvar/191952 ^@ NM_133378.4(TTN):c.41366C>T (p.Ala13789Val) http://identifiers.org/clinvar/191953 ^@ NM_133378.4(TTN):c.41047G>A (p.Asp13683Asn) http://identifiers.org/clinvar/191954 ^@ NM_133378.4(TTN):c.40891T>C (p.Ser13631Pro) http://identifiers.org/clinvar/191955 ^@ NM_133378.4(TTN):c.40414C>T (p.Arg13472Cys) http://identifiers.org/clinvar/191956 ^@ NM_133378.4(TTN):c.40375C>T (p.Arg13459Cys) http://identifiers.org/clinvar/191957 ^@ NM_133378.4(TTN):c.40232C>T (p.Pro13411Leu) http://identifiers.org/clinvar/191958 ^@ NM_133378.4(TTN):c.39385C>T (p.Arg13129Cys) http://identifiers.org/clinvar/191959 ^@ NM_133378.4(TTN):c.37543C>T (p.Arg12515Trp) http://identifiers.org/clinvar/191960 ^@ NM_133378.4(TTN):c.37495G>A (p.Asp12499Asn) http://identifiers.org/clinvar/191962 ^@ NM_133378.4(TTN):c.37340T>A (p.Val12447Glu) http://identifiers.org/clinvar/192166 ^@ NM_133378.4(TTN):c.37274G>A (p.Gly12425Glu) http://identifiers.org/clinvar/191963 ^@ NM_133378.4(TTN):c.37120G>A (p.Val12374Met) http://identifiers.org/clinvar/191964 ^@ NM_133378.4(TTN):c.37111+2dup http://identifiers.org/clinvar/191965 ^@ NM_133378.4(TTN):c.37028T>C (p.Ile12343Thr) http://identifiers.org/clinvar/191966 ^@ NM_133378.4(TTN):c.36153T>G (p.Phe12051Leu) http://identifiers.org/clinvar/191967 ^@ NM_133378.4(TTN):c.35586A>C (p.Glu11862Asp) http://identifiers.org/clinvar/191968 ^@ NM_133378.4(TTN):c.35135A>G (p.Asp11712Gly) http://identifiers.org/clinvar/191969 ^@ NM_133378.4(TTN):c.34617T>A (p.His11539Gln) http://identifiers.org/clinvar/191970 ^@ NM_133378.4(TTN):c.34303C>T (p.Leu11435Phe) http://identifiers.org/clinvar/191971 ^@ NM_133378.4(TTN):c.33817G>A (p.Asp11273Asn) http://identifiers.org/clinvar/191972 ^@ NM_133378.4(TTN):c.33719G>A (p.Arg11240His) http://identifiers.org/clinvar/191973 ^@ NM_133378.4(TTN):c.32935G>A (p.Glu10979Lys) http://identifiers.org/clinvar/191974 ^@ NM_133378.4(TTN):c.32710C>A (p.Pro10904Thr) http://identifiers.org/clinvar/191975 ^@ NM_133378.4(TTN):c.32594-1032_32594-1029del http://identifiers.org/clinvar/192211 ^@ NM_133378.4(TTN):c.32594-1032_32594-1031del http://identifiers.org/clinvar/192212 ^@ NM_133378.4(TTN):c.32594-1032_32594-1031dup http://identifiers.org/clinvar/191976 ^@ NM_133378.4(TTN):c.32594-1042C>T http://identifiers.org/clinvar/191977 ^@ NM_133378.4(TTN):c.32593+231C>A http://identifiers.org/clinvar/191978 ^@ NM_133378.4(TTN):c.32371C>T (p.Pro10791Ser) http://identifiers.org/clinvar/191979 ^@ NM_133378.4(TTN):c.31933G>A (p.Val10645Ile) http://identifiers.org/clinvar/191980 ^@ NM_133378.4(TTN):c.31748A>G (p.Glu10583Gly) http://identifiers.org/clinvar/192167 ^@ NM_133378.4(TTN):c.31742-2225C>T http://identifiers.org/clinvar/191981 ^@ NM_133378.4(TTN):c.31742-2228A>G http://identifiers.org/clinvar/191982 ^@ NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu) http://identifiers.org/clinvar/192168 ^@ NM_133378.4(TTN):c.31741+871G>A http://identifiers.org/clinvar/192169 ^@ NM_133378.4(TTN):c.31741+282G>A http://identifiers.org/clinvar/192213 ^@ NM_133378.4(TTN):c.31741+218A>T http://identifiers.org/clinvar/191983 ^@ NM_133378.4(TTN):c.31717A>G (p.Lys10573Glu) http://identifiers.org/clinvar/192170 ^@ NM_133378.4(TTN):c.31666G>T (p.Val10556Leu) http://identifiers.org/clinvar/192171 ^@ NM_133378.4(TTN):c.31573+1169C>T http://identifiers.org/clinvar/191984 ^@ NM_133378.4(TTN):c.31520A>T (p.Glu10507Val) http://identifiers.org/clinvar/192172 ^@ NM_133378.4(TTN):c.31484-235A>G http://identifiers.org/clinvar/192214 ^@ NM_133378.4(TTN):c.31484-286G>T http://identifiers.org/clinvar/192173 ^@ NM_133378.4(TTN):c.31484-595A>T http://identifiers.org/clinvar/192215 ^@ NM_133378.4(TTN):c.31484-596G>A http://identifiers.org/clinvar/191985 ^@ NM_133378.4(TTN):c.31484-634T>A http://identifiers.org/clinvar/191986 ^@ NM_133378.4(TTN):c.31484-638G>C http://identifiers.org/clinvar/192216 ^@ NM_133378.4(TTN):c.31484-977A>G http://identifiers.org/clinvar/192217 ^@ NM_133378.4(TTN):c.31484-1025A>T http://identifiers.org/clinvar/191987 ^@ NM_133378.4(TTN):c.31484-1431A>G http://identifiers.org/clinvar/191988 ^@ NM_133378.4(TTN):c.31484-1871C>G http://identifiers.org/clinvar/192174 ^@ NM_133378.4(TTN):c.31483+2499T>A http://identifiers.org/clinvar/191989 ^@ NM_133378.4(TTN):c.31483+543C>A http://identifiers.org/clinvar/191990 ^@ NM_133378.4(TTN):c.31207A>G (p.Lys10403Glu) http://identifiers.org/clinvar/191991 ^@ NM_133378.4(TTN):c.30572A>G (p.Lys10191Arg) http://identifiers.org/clinvar/191992 ^@ NM_133378.4(TTN):c.30484C>A (p.Pro10162Thr) http://identifiers.org/clinvar/191993 ^@ NM_001267550.2(TTN):c.33501_33503delAGA (p.Glu11172del) http://identifiers.org/clinvar/191582 ^@ NM_133378.4(TTN):c.29362+1G>A http://identifiers.org/clinvar/191994 ^@ NM_133378.4(TTN):c.28921A>T (p.Met9641Leu) http://identifiers.org/clinvar/191995 ^@ NM_133378.4(TTN):c.28013C>T (p.Pro9338Leu) http://identifiers.org/clinvar/191996 ^@ NM_133378.4(TTN):c.28003A>C (p.Lys9335Gln) http://identifiers.org/clinvar/191997 ^@ NM_133378.4(TTN):c.27375A>T (p.Glu9125Asp) http://identifiers.org/clinvar/191998 ^@ NM_133378.4(TTN):c.26866G>C (p.Glu8956Gln) http://identifiers.org/clinvar/191999 ^@ NM_133378.4(TTN):c.26812C>T (p.Pro8938Ser) http://identifiers.org/clinvar/192000 ^@ NM_133378.4(TTN):c.24949G>A (p.Ala8317Thr) http://identifiers.org/clinvar/192001 ^@ NM_133378.4(TTN):c.24733C>T (p.Arg8245Trp) http://identifiers.org/clinvar/192002 ^@ NM_133378.4(TTN):c.24530C>T (p.Thr8177Met) http://identifiers.org/clinvar/192003 ^@ NM_133378.4(TTN):c.24464T>A (p.Phe8155Tyr) http://identifiers.org/clinvar/192004 ^@ NM_133378.4(TTN):c.23933C>T (p.Ala7978Val) http://identifiers.org/clinvar/192005 ^@ NM_133378.4(TTN):c.23887T>G (p.Phe7963Val) http://identifiers.org/clinvar/192006 ^@ NM_133378.4(TTN):c.23461T>C (p.Cys7821Arg) http://identifiers.org/clinvar/192007 ^@ NM_133378.4(TTN):c.22445G>A (p.Cys7482Tyr) http://identifiers.org/clinvar/192008 ^@ NM_133378.4(TTN):c.22145A>G (p.Asn7382Ser) http://identifiers.org/clinvar/192175 ^@ NM_133378.4(TTN):c.21749G>A (p.Arg7250Gln) http://identifiers.org/clinvar/192009 ^@ NM_133378.4(TTN):c.20981A>T (p.Tyr6994Phe) http://identifiers.org/clinvar/192010 ^@ NM_133378.4(TTN):c.20839G>A (p.Glu6947Lys) http://identifiers.org/clinvar/192011 ^@ NM_133378.4(TTN):c.20570T>A (p.Ile6857Asn) http://identifiers.org/clinvar/192012 ^@ NM_133378.4(TTN):c.19954G>A (p.Glu6652Lys) http://identifiers.org/clinvar/192013 ^@ NM_133378.4(TTN):c.19352C>T (p.Ala6451Val) http://identifiers.org/clinvar/192014 ^@ NM_133378.4(TTN):c.17774A>G (p.Asn5925Ser) http://identifiers.org/clinvar/192015 ^@ NM_133378.4(TTN):c.17646A>C (p.Glu5882Asp) http://identifiers.org/clinvar/192016 ^@ NM_133378.4(TTN):c.17440G>C (p.Gly5814Arg) http://identifiers.org/clinvar/192017 ^@ NM_133378.4(TTN):c.16892C>T (p.Ala5631Val) http://identifiers.org/clinvar/192018 ^@ NM_133378.4(TTN):c.16595C>T (p.Ala5532Val) http://identifiers.org/clinvar/192019 ^@ NM_133378.4(TTN):c.16438G>T (p.Val5480Phe) http://identifiers.org/clinvar/192020 ^@ NM_133378.4(TTN):c.16263A>T (p.Glu5421Asp) http://identifiers.org/clinvar/192021 ^@ NM_133378.4(TTN):c.15815A>T (p.Lys5272Met) http://identifiers.org/clinvar/192022 ^@ NM_133378.4(TTN):c.15803C>T (p.Ala5268Val) http://identifiers.org/clinvar/192023 ^@ NM_133378.4(TTN):c.14896G>A (p.Val4966Ile) http://identifiers.org/clinvar/192024 ^@ NM_133378.4(TTN):c.14879A>C (p.Glu4960Ala) http://identifiers.org/clinvar/192025 ^@ NM_133378.4(TTN):c.14137C>G (p.Gln4713Glu) http://identifiers.org/clinvar/192026 ^@ NM_133378.4(TTN):c.13570G>A (p.Asp4524Asn) http://identifiers.org/clinvar/192027 ^@ NM_133378.4(TTN):c.12817T>G (p.Ser4273Ala) http://identifiers.org/clinvar/192028 ^@ NM_133378.4(TTN):c.12331A>G (p.Ile4111Val) http://identifiers.org/clinvar/192029 ^@ NM_133378.4(TTN):c.12103A>G (p.Thr4035Ala) http://identifiers.org/clinvar/192030 ^@ NM_133378.4(TTN):c.11812G>A (p.Gly3938Arg) http://identifiers.org/clinvar/192031 ^@ NM_133378.4(TTN):c.11650T>G (p.Ser3884Ala) http://identifiers.org/clinvar/192032 ^@ NM_133378.4(TTN):c.11354G>A (p.Arg3785Gln) http://identifiers.org/clinvar/192033 ^@ NM_133378.4(TTN):c.11137A>C (p.Thr3713Pro) http://identifiers.org/clinvar/192034 ^@ NM_133378.4(TTN):c.10361-868G>A http://identifiers.org/clinvar/192035 ^@ NM_133378.4(TTN):c.10361-1172T>G http://identifiers.org/clinvar/192036 ^@ NM_133378.4(TTN):c.10361-2052G>A http://identifiers.org/clinvar/192037 ^@ NM_133378.4(TTN):c.10361-2130A>C http://identifiers.org/clinvar/192038 ^@ NM_133378.4(TTN):c.10361-2486G>C http://identifiers.org/clinvar/192039 ^@ NM_133378.4(TTN):c.10361-2877A>G http://identifiers.org/clinvar/192040 ^@ NM_133378.4(TTN):c.10361-7361C>G http://identifiers.org/clinvar/192041 ^@ NM_133378.4(TTN):c.10360+7045C>T http://identifiers.org/clinvar/192042 ^@ NM_133378.4(TTN):c.10360+6980G>A http://identifiers.org/clinvar/192043 ^@ NM_133378.4(TTN):c.10360+6743A>G http://identifiers.org/clinvar/192044 ^@ NM_133378.4(TTN):c.10360+6110C>G http://identifiers.org/clinvar/192045 ^@ NM_133379.4(TTN):c.15349T>G (p.Tyr5117Asp) http://identifiers.org/clinvar/192046 ^@ NM_133379.4(TTN):c.15227C>T (p.Pro5076Leu) http://identifiers.org/clinvar/192047 ^@ NM_133378.4(TTN):c.10360+5854G>A http://identifiers.org/clinvar/192048 ^@ NM_133378.4(TTN):c.10360+5565_10360+5566del http://identifiers.org/clinvar/192049 ^@ NM_133378.4(TTN):c.10360+5260C>A http://identifiers.org/clinvar/192050 ^@ NM_133379.4(TTN):c.14526T>A (p.Asn4842Lys) http://identifiers.org/clinvar/192051 ^@ NM_133378.4(TTN):c.10360+4739C>T http://identifiers.org/clinvar/192052 ^@ NM_133378.4(TTN):c.10360+4702C>T http://identifiers.org/clinvar/192176 ^@ NM_133378.4(TTN):c.10360+4587G>A http://identifiers.org/clinvar/192177 ^@ NM_133379.4(TTN):c.13859A>C (p.Gln4620Pro) http://identifiers.org/clinvar/192053 ^@ NM_133378.4(TTN):c.10360+4523A>C http://identifiers.org/clinvar/192054 ^@ NM_133378.4(TTN):c.10360+4136G>C http://identifiers.org/clinvar/192178 ^@ NM_133378.4(TTN):c.10360+3968A>T http://identifiers.org/clinvar/192055 ^@ NM_133378.4(TTN):c.10360+3965C>T http://identifiers.org/clinvar/192056 ^@ NM_133378.4(TTN):c.10360+3173T>G http://identifiers.org/clinvar/192057 ^@ NM_133378.4(TTN):c.10360+2680C>T http://identifiers.org/clinvar/192058 ^@ NM_133378.4(TTN):c.10360+2666A>G http://identifiers.org/clinvar/192059 ^@ NM_133378.4(TTN):c.10360+2558C>T http://identifiers.org/clinvar/192060 ^@ NM_133378.4(TTN):c.10360+1457A>G http://identifiers.org/clinvar/192179 ^@ NM_133379.4(TTN):c.10646G>A (p.Arg3549His) http://identifiers.org/clinvar/192062 ^@ NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) http://identifiers.org/clinvar/192063 ^@ NM_133378.4(TTN):c.9857A>G (p.Lys3286Arg) http://identifiers.org/clinvar/192064 ^@ NM_133378.4(TTN):c.9707C>T (p.Pro3236Leu) http://identifiers.org/clinvar/192065 ^@ NM_133378.4(TTN):c.9691C>T (p.Leu3231Phe) http://identifiers.org/clinvar/192066 ^@ NM_133378.4(TTN):c.9363G>A (p.Met3121Ile) http://identifiers.org/clinvar/192067 ^@ NM_133378.4(TTN):c.8884G>C (p.Ala2962Pro) http://identifiers.org/clinvar/192068 ^@ NM_133378.4(TTN):c.8788G>A (p.Val2930Ile) http://identifiers.org/clinvar/192069 ^@ NM_133378.4(TTN):c.8509A>T (p.Ser2837Cys) http://identifiers.org/clinvar/192070 ^@ NM_133378.4(TTN):c.7548G>C (p.Lys2516Asn) http://identifiers.org/clinvar/192071 ^@ NM_133378.4(TTN):c.7468C>T (p.Arg2490Cys) http://identifiers.org/clinvar/192072 ^@ NM_133378.4(TTN):c.7057+2dup http://identifiers.org/clinvar/192073 ^@ NM_133378.4(TTN):c.6927T>A (p.Asn2309Lys) http://identifiers.org/clinvar/192074 ^@ NM_133378.4(TTN):c.6770C>G (p.Thr2257Ser) http://identifiers.org/clinvar/192075 ^@ NM_133378.4(TTN):c.6668A>T (p.His2223Leu) http://identifiers.org/clinvar/192076 ^@ NM_133378.4(TTN):c.6584A>G (p.Glu2195Gly) http://identifiers.org/clinvar/192077 ^@ NM_133378.4(TTN):c.6172A>G (p.Lys2058Glu) http://identifiers.org/clinvar/192078 ^@ NM_133378.4(TTN):c.5855A>G (p.His1952Arg) http://identifiers.org/clinvar/192079 ^@ NM_133378.4(TTN):c.5762T>C (p.Ile1921Thr) http://identifiers.org/clinvar/192080 ^@ NM_133378.4(TTN):c.5665G>T (p.Val1889Phe) http://identifiers.org/clinvar/192081 ^@ NM_133378.4(TTN):c.5479G>A (p.Ala1827Thr) http://identifiers.org/clinvar/192082 ^@ NM_133378.4(TTN):c.5419C>A (p.Pro1807Thr) http://identifiers.org/clinvar/192083 ^@ NM_133378.4(TTN):c.5264A>G (p.Asn1755Ser) http://identifiers.org/clinvar/192084 ^@ NM_133378.4(TTN):c.4727A>C (p.Lys1576Thr) http://identifiers.org/clinvar/192085 ^@ NM_133378.4(TTN):c.4321C>T (p.Arg1441Cys) http://identifiers.org/clinvar/192086 ^@ NM_133378.4(TTN):c.4076A>G (p.Glu1359Gly) http://identifiers.org/clinvar/192087 ^@ NM_133378.4(TTN):c.3737A>T (p.His1246Leu) http://identifiers.org/clinvar/192088 ^@ NM_133378.4(TTN):c.3616G>T (p.Ala1206Ser) http://identifiers.org/clinvar/192089 ^@ NM_133378.4(TTN):c.3476G>T (p.Arg1159Leu) http://identifiers.org/clinvar/192090 ^@ NM_133378.4(TTN):c.3241G>T (p.Ala1081Ser) http://identifiers.org/clinvar/192091 ^@ NM_133378.4(TTN):c.3010G>A (p.Glu1004Lys) http://identifiers.org/clinvar/192092 ^@ NM_133378.4(TTN):c.2995C>T (p.Arg999Cys) http://identifiers.org/clinvar/192093 ^@ NM_133378.4(TTN):c.2504C>A (p.Ala835Asp) http://identifiers.org/clinvar/192094 ^@ NM_133378.4(TTN):c.2358C>G (p.His786Gln) http://identifiers.org/clinvar/192095 ^@ NM_133378.4(TTN):c.2254C>T (p.Arg752Cys) http://identifiers.org/clinvar/192096 ^@ NM_133378.4(TTN):c.2022A>C (p.Arg674Ser) http://identifiers.org/clinvar/192097 ^@ NM_133378.4(TTN):c.1648G>T (p.Val550Leu) http://identifiers.org/clinvar/192098 ^@ NM_133378.4(TTN):c.454A>G (p.Ile152Val) http://identifiers.org/clinvar/192099 ^@ NM_133378.4(TTN):c.266C>G (p.Ala89Gly) http://identifiers.org/clinvar/192180 ^@ NM_133378.4(TTN):c.43G>A (p.Val15Ile) http://identifiers.org/clinvar/191615 ^@ NM_001927.3(DES):c.1133A>C (p.Lys378Thr) http://identifiers.org/clinvar/191616 ^@ NM_001927.3(DES):c.1361G>A (p.Arg454Gln) http://identifiers.org/clinvar/191617 ^@ NM_001927.3(DES):c.1404A>C (p.Glu468Asp) http://identifiers.org/clinvar/191780 ^@ NM_024334.2(TMEM43):c.121A>G (p.Met41Val) http://identifiers.org/clinvar/191781 ^@ NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) http://identifiers.org/clinvar/191782 ^@ NM_024334.2(TMEM43):c.206C>T (p.Ser69Leu) http://identifiers.org/clinvar/191783 ^@ NM_024334.2(TMEM43):c.218C>A (p.Ser73Tyr) http://identifiers.org/clinvar/191784 ^@ NM_024334.2(TMEM43):c.296A>G (p.Lys99Arg) http://identifiers.org/clinvar/192132 ^@ NM_024334.2(TMEM43):c.882+25G>A http://identifiers.org/clinvar/191785 ^@ NM_024334.2(TMEM43):c.1090G>A (p.Val364Met) http://identifiers.org/clinvar/191742 ^@ NM_016599.4(MYOZ2):c.302C>A (p.Ser101Ter) http://identifiers.org/clinvar/191743 ^@ NM_016599.4(MYOZ2):c.363C>A (p.Asp121Glu) http://identifiers.org/clinvar/191744 ^@ NM_016599.4(MYOZ2):c.666T>A (p.Phe222Leu) http://identifiers.org/clinvar/191745 ^@ NM_016599.4(MYOZ2):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/191774 ^@ NM_000337.5(SGCD):c.-43-1G>A http://identifiers.org/clinvar/192194 ^@ NM_000337.5(SGCD):c.91C>G (p.Arg31Gly) http://identifiers.org/clinvar/191775 ^@ NM_000337.5(SGCD):c.268T>A (p.Tyr90Asn) http://identifiers.org/clinvar/191678 ^@ NM_002290.4(LAMA4):c.5416G>A (p.Gly1806Ser) http://identifiers.org/clinvar/191679 ^@ NM_002290.4(LAMA4):c.5348C>T (p.Thr1783Ile) http://identifiers.org/clinvar/191680 ^@ NM_002290.4(LAMA4):c.4687G>T (p.Asp1563Tyr) http://identifiers.org/clinvar/191681 ^@ NM_002290.4(LAMA4):c.4307C>T (p.Ala1436Val) http://identifiers.org/clinvar/191682 ^@ NM_002290.4(LAMA4):c.3564T>A (p.Asp1188Glu) http://identifiers.org/clinvar/191683 ^@ NM_002290.4(LAMA4):c.3301C>T (p.His1101Tyr) http://identifiers.org/clinvar/191684 ^@ NM_002290.4(LAMA4):c.3053A>G (p.Tyr1018Cys) http://identifiers.org/clinvar/191685 ^@ NM_002290.4(LAMA4):c.3008C>T (p.Thr1003Ile) http://identifiers.org/clinvar/191686 ^@ NM_002290.4(LAMA4):c.3005C>A (p.Ala1002Asp) http://identifiers.org/clinvar/191687 ^@ NM_002290.4(LAMA4):c.2891C>T (p.Ser964Phe) http://identifiers.org/clinvar/192119 ^@ NM_002290.4(LAMA4):c.2377C>T (p.Arg793Cys) http://identifiers.org/clinvar/191688 ^@ NM_002290.4(LAMA4):c.2156A>T (p.Asp719Val) http://identifiers.org/clinvar/191689 ^@ NM_002290.4(LAMA4):c.1837G>A (p.Ala613Thr) http://identifiers.org/clinvar/192120 ^@ NM_002290.4(LAMA4):c.1256T>C (p.Met419Thr) http://identifiers.org/clinvar/191690 ^@ NM_002290.4(LAMA4):c.1066G>C (p.Ala356Pro) http://identifiers.org/clinvar/191691 ^@ NM_002290.4(LAMA4):c.811T>C (p.Trp271Arg) http://identifiers.org/clinvar/191692 ^@ NM_002290.4(LAMA4):c.676C>T (p.Pro226Ser) http://identifiers.org/clinvar/192121 ^@ NM_002290.4(LAMA4):c.668G>A (p.Arg223His) http://identifiers.org/clinvar/192187 ^@ NM_002290.4(LAMA4):c.297+2368G>A http://identifiers.org/clinvar/191693 ^@ NM_002290.4(LAMA4):c.195+69_195+71del http://identifiers.org/clinvar/191657 ^@ NM_004100.4(EYA4):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/191658 ^@ NM_004100.4(EYA4):c.215A>G (p.Asn72Ser) http://identifiers.org/clinvar/191659 ^@ NM_004100.4(EYA4):c.233C>G (p.Thr78Arg) http://identifiers.org/clinvar/191660 ^@ NM_004100.4(EYA4):c.563A>G (p.Tyr188Cys) http://identifiers.org/clinvar/191661 ^@ NM_004100.4(EYA4):c.887C>T (p.Ser296Leu) http://identifiers.org/clinvar/191662 ^@ NM_004100.4(EYA4):c.970+16C>G http://identifiers.org/clinvar/191663 ^@ NM_004100.4(EYA4):c.978C>G (p.Phe326Leu) http://identifiers.org/clinvar/191664 ^@ NM_004100.4(EYA4):c.979G>A (p.Asp327Asn) http://identifiers.org/clinvar/192118 ^@ NM_004100.4(EYA4):c.1035G>C (p.Arg345Ser) http://identifiers.org/clinvar/191665 ^@ NM_004100.4(EYA4):c.1603A>G (p.Ile535Val) http://identifiers.org/clinvar/191666 ^@ NM_004100.4(EYA4):c.1685A>G (p.Tyr562Cys) http://identifiers.org/clinvar/191634 ^@ NM_004415.3(DSP):c.386G>A (p.Arg129Gln) http://identifiers.org/clinvar/191635 ^@ NM_004415.3(DSP):c.1630A>C (p.Met544Leu) http://identifiers.org/clinvar/191636 ^@ NM_004415.3(DSP):c.1942G>T (p.Asp648Tyr) http://identifiers.org/clinvar/191637 ^@ NM_004415.3(DSP):c.2958G>T (p.Gln986His) http://identifiers.org/clinvar/191638 ^@ NM_004415.3(DSP):c.3221C>A (p.Ala1074Glu) http://identifiers.org/clinvar/192115 ^@ NM_004415.3(DSP):c.3297G>C (p.Lys1099Asn) http://identifiers.org/clinvar/191639 ^@ NM_004415.3(DSP):c.3600T>G (p.Asn1200Lys) http://identifiers.org/clinvar/192116 ^@ NM_004415.3(DSP):c.4034A>C (p.Glu1345Ala) http://identifiers.org/clinvar/192117 ^@ NM_004415.3(DSP):c.4741A>G (p.Lys1581Glu) http://identifiers.org/clinvar/191640 ^@ NM_004415.3(DSP):c.5014C>G (p.Gln1672Glu) http://identifiers.org/clinvar/191641 ^@ NM_004415.3(DSP):c.5976C>A (p.Asp1992Glu) http://identifiers.org/clinvar/191642 ^@ NM_004415.3(DSP):c.7021G>A (p.Asp2341Asn) http://identifiers.org/clinvar/191643 ^@ NM_004415.3(DSP):c.7817G>A (p.Ser2606Asn) http://identifiers.org/clinvar/191644 ^@ NM_004415.3(DSP):c.7864A>G (p.Ile2622Val) http://identifiers.org/clinvar/191645 ^@ NM_004415.3(DSP):c.8347A>G (p.Ile2783Val) http://identifiers.org/clinvar/191646 ^@ NM_004415.3(DSP):c.8462C>T (p.Ser2821Leu) http://identifiers.org/clinvar/191606 ^@ NM_004281.3(BAG3):c.368G>A (p.Arg123Gln) http://identifiers.org/clinvar/191607 ^@ NM_004281.3(BAG3):c.508C>T (p.Arg170Trp) http://identifiers.org/clinvar/191608 ^@ NM_004281.3(BAG3):c.616A>G (p.Ile206Val) http://identifiers.org/clinvar/191609 ^@ NM_004281.3(BAG3):c.646G>T (p.Val216Phe) http://identifiers.org/clinvar/191610 ^@ NM_004281.3(BAG3):c.1100C>G (p.Pro367Arg) http://identifiers.org/clinvar/191611 ^@ NM_004281.3(BAG3):c.1172C>T (p.Ala391Val) http://identifiers.org/clinvar/191612 ^@ NM_004281.3(BAG3):c.1321A>G (p.Asn441Asp) http://identifiers.org/clinvar/192113 ^@ NM_004281.3(BAG3):c.1436C>T (p.Ala479Val) http://identifiers.org/clinvar/191746 ^@ NM_032578.3(MYPN):c.185A>C (p.Asp62Ala) http://identifiers.org/clinvar/191747 ^@ NM_032578.3(MYPN):c.392G>T (p.Ser131Ile) http://identifiers.org/clinvar/191748 ^@ NM_032578.3(MYPN):c.662A>T (p.Asp221Val) http://identifiers.org/clinvar/192124 ^@ NM_032578.3(MYPN):c.952G>A (p.Val318Ile) http://identifiers.org/clinvar/191749 ^@ NM_032578.3(MYPN):c.1130G>A (p.Arg377Gln) http://identifiers.org/clinvar/191750 ^@ NM_032578.3(MYPN):c.1238T>C (p.Ile413Thr) http://identifiers.org/clinvar/192125 ^@ NM_032578.3(MYPN):c.1790G>A (p.Arg597His) http://identifiers.org/clinvar/191751 ^@ NM_032578.3(MYPN):c.1858A>G (p.Thr620Ala) http://identifiers.org/clinvar/191752 ^@ NM_032578.3(MYPN):c.2042C>T (p.Pro681Leu) http://identifiers.org/clinvar/191753 ^@ NM_032578.3(MYPN):c.2260A>C (p.Ile754Leu) http://identifiers.org/clinvar/191754 ^@ NM_032578.3(MYPN):c.2560T>A (p.Ser854Thr) http://identifiers.org/clinvar/191755 ^@ NM_032578.3(MYPN):c.2756G>A (p.Arg919His) http://identifiers.org/clinvar/192126 ^@ NM_032578.3(MYPN):c.2863C>T (p.Arg955Trp) http://identifiers.org/clinvar/191756 ^@ NM_032578.3(MYPN):c.2981T>C (p.Met994Thr) http://identifiers.org/clinvar/191757 ^@ NM_032578.3(MYPN):c.3335C>A (p.Pro1112His) http://identifiers.org/clinvar/192192 ^@ NM_032578.3(MYPN):c.3421G>A (p.Ala1141Thr) http://identifiers.org/clinvar/191758 ^@ NM_032578.3(MYPN):c.3440T>A (p.Ile1147Asn) http://identifiers.org/clinvar/191759 ^@ NM_032578.3(MYPN):c.3833G>A (p.Arg1278Gln) http://identifiers.org/clinvar/192127 ^@ NM_032578.3(MYPN):c.3846T>A (p.Ser1282Arg) http://identifiers.org/clinvar/191760 ^@ NM_032578.3(MYPN):c.3934C>T (p.Arg1312Trp) http://identifiers.org/clinvar/192100 ^@ NM_014000.2(VCL):c.404T>C (p.Ile135Thr) http://identifiers.org/clinvar/192101 ^@ NM_014000.2(VCL):c.695T>A (p.Phe232Tyr) http://identifiers.org/clinvar/192102 ^@ NM_014000.2(VCL):c.1157A>G (p.Lys386Arg) http://identifiers.org/clinvar/192103 ^@ NM_014000.2(VCL):c.1192C>T (p.Pro398Ser) http://identifiers.org/clinvar/192104 ^@ NM_014000.2(VCL):c.1225C>T (p.Arg409Ter) http://identifiers.org/clinvar/192105 ^@ NM_014000.2(VCL):c.1607C>A (p.Pro536His) http://identifiers.org/clinvar/192106 ^@ NM_014000.2(VCL):c.2521G>C (p.Asp841His) http://identifiers.org/clinvar/192181 ^@ NM_014000.2(VCL):c.2827C>G (p.Pro943Ala) http://identifiers.org/clinvar/192107 ^@ NM_014000.2(VCL):c.2893C>T (p.Pro965Ser) http://identifiers.org/clinvar/191694 ^@ NM_001080116.1(LDB3):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/191695 ^@ NM_001080116.1(LDB3):c.321+1400G>A http://identifiers.org/clinvar/191696 ^@ NM_001080116.1(LDB3):c.346G>A (p.Ala116Thr) http://identifiers.org/clinvar/191697 ^@ NM_001080116.1(LDB3):c.574G>A (p.Val192Ile) http://identifiers.org/clinvar/191698 ^@ NM_001080116.1(LDB3):c.623A>G (p.Lys208Arg) http://identifiers.org/clinvar/191699 ^@ NM_001080116.1(LDB3):c.746G>A (p.Arg249Gln) http://identifiers.org/clinvar/192188 ^@ NM_001080114.1(LDB3):c.995C>T (p.Ala332Val) http://identifiers.org/clinvar/192189 ^@ NM_001080114.1(LDB3):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/191700 ^@ NM_001080114.1(LDB3):c.1406A>G (p.Tyr469Cys) http://identifiers.org/clinvar/191602 ^@ NM_014391.2(ANKRD1):c.821A>G (p.Tyr274Cys) http://identifiers.org/clinvar/191577 ^@ NM_014391.2(ANKRD1):c.368C>T (p.Thr123Met) http://identifiers.org/clinvar/191603 ^@ NM_014391.2(ANKRD1):c.328C>T (p.Pro110Ser) http://identifiers.org/clinvar/191604 ^@ NM_014391.2(ANKRD1):c.316G>A (p.Val106Ile) http://identifiers.org/clinvar/192112 ^@ NM_014391.2(ANKRD1):c.313C>T (p.Pro105Ser) http://identifiers.org/clinvar/191605 ^@ NM_014391.2(ANKRD1):c.202G>A (p.Ala68Thr) http://identifiers.org/clinvar/191703 ^@ NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) http://identifiers.org/clinvar/191705 ^@ NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) http://identifiers.org/clinvar/191706 ^@ NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn) http://identifiers.org/clinvar/191707 ^@ NM_000256.3(MYBPC3):c.419C>T (p.Ala140Val) http://identifiers.org/clinvar/191733 ^@ NM_000432.3(MYL2):c.433G>A (p.Asp145Asn) http://identifiers.org/clinvar/191580 ^@ NM_000432.3(MYL2):c.426delC (p.Pro144Leufs) http://identifiers.org/clinvar/192108 ^@ NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525Cysfs) http://identifiers.org/clinvar/192109 ^@ NM_005691.3(ABCC9):c.4571T>A (p.Leu1524Ter) http://identifiers.org/clinvar/192110 ^@ NM_005691.3(ABCC9):c.4570T>A (p.Leu1524Ile) http://identifiers.org/clinvar/191583 ^@ NM_005691.3(ABCC9):c.3955G>A (p.Val1319Ile) http://identifiers.org/clinvar/191584 ^@ NM_005691.3(ABCC9):c.3594G>A (p.Met1198Ile) http://identifiers.org/clinvar/191585 ^@ NM_005691.3(ABCC9):c.3299C>T (p.Thr1100Ile) http://identifiers.org/clinvar/191586 ^@ NM_005691.3(ABCC9):c.2813G>A (p.Arg938Gln) http://identifiers.org/clinvar/191587 ^@ NM_005691.3(ABCC9):c.2215C>G (p.Pro739Ala) http://identifiers.org/clinvar/191588 ^@ NM_005691.3(ABCC9):c.2066C>T (p.Ser689Phe) http://identifiers.org/clinvar/191589 ^@ NM_005691.3(ABCC9):c.1981C>T (p.Arg661Cys) http://identifiers.org/clinvar/191590 ^@ NM_005691.3(ABCC9):c.406+2111C>G http://identifiers.org/clinvar/191591 ^@ NM_005691.3(ABCC9):c.287G>A (p.Arg96Gln) http://identifiers.org/clinvar/191761 ^@ NM_004572.3(PKP2):c.2631C>A (p.His877Gln) http://identifiers.org/clinvar/191762 ^@ NM_004572.3(PKP2):c.2492A>G (p.Tyr831Cys) http://identifiers.org/clinvar/191763 ^@ NM_004572.3(PKP2):c.2464A>T (p.Ile822Phe) http://identifiers.org/clinvar/191764 ^@ NM_004572.3(PKP2):c.2303A>C (p.Lys768Thr) http://identifiers.org/clinvar/192128 ^@ NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) http://identifiers.org/clinvar/191765 ^@ NM_004572.3(PKP2):c.1421C>T (p.Ala474Val) http://identifiers.org/clinvar/191766 ^@ NM_004572.3(PKP2):c.1238G>A (p.Arg413Gln) http://identifiers.org/clinvar/191581 ^@ NM_004572.3(PKP2):c.979dupG (p.Ser329Lysfs) http://identifiers.org/clinvar/191786 ^@ NM_003276.2(TMPO):c.331G>A (p.Asp111Asn) http://identifiers.org/clinvar/191787 ^@ NM_003276.2(TMPO):c.358C>A (p.Leu120Ile) http://identifiers.org/clinvar/191788 ^@ NM_003276.2(TMPO):c.382G>A (p.Gly128Arg) http://identifiers.org/clinvar/191789 ^@ NM_003276.2(TMPO):c.557A>G (p.Asn186Ser) http://identifiers.org/clinvar/191790 ^@ NM_003276.2(TMPO):c.886T>G (p.Ser296Ala) http://identifiers.org/clinvar/191791 ^@ NM_003276.2(TMPO):c.1112C>T (p.Pro371Leu) http://identifiers.org/clinvar/191792 ^@ NM_003276.2(TMPO):c.1256A>G (p.Glu419Gly) http://identifiers.org/clinvar/192133 ^@ NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) http://identifiers.org/clinvar/192134 ^@ NM_003276.2(TMPO):c.1331C>G (p.Ser444Cys) http://identifiers.org/clinvar/191793 ^@ NM_003276.2(TMPO):c.1405C>G (p.Leu469Val) http://identifiers.org/clinvar/191794 ^@ NM_003276.2(TMPO):c.2020A>G (p.Lys674Glu) http://identifiers.org/clinvar/191795 ^@ NM_001032283.2(TMPO):c.856A>G (p.Met286Val) http://identifiers.org/clinvar/191796 ^@ NM_001032283.2(TMPO):c.887A>G (p.Asn296Ser) http://identifiers.org/clinvar/191797 ^@ NM_001032283.2(TMPO):c.1120C>A (p.Pro374Thr) http://identifiers.org/clinvar/191798 ^@ NM_001032283.2(TMPO):c.1177A>G (p.Lys393Glu) http://identifiers.org/clinvar/191708 ^@ NM_002471.3(MYH6):c.5140C>T (p.Arg1714Trp) http://identifiers.org/clinvar/191709 ^@ NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile) http://identifiers.org/clinvar/191710 ^@ NM_002471.3(MYH6):c.4822C>T (p.Arg1608Cys) http://identifiers.org/clinvar/191711 ^@ NM_002471.3(MYH6):c.4429C>T (p.Arg1477Cys) http://identifiers.org/clinvar/191712 ^@ NM_002471.3(MYH6):c.4193G>A (p.Arg1398Gln) http://identifiers.org/clinvar/191713 ^@ NM_002471.3(MYH6):c.4026C>A (p.Cys1342Ter) http://identifiers.org/clinvar/191714 ^@ NM_002471.3(MYH6):c.3988G>A (p.Ala1330Thr) http://identifiers.org/clinvar/191715 ^@ NM_002471.3(MYH6):c.3817A>T (p.Asn1273Tyr) http://identifiers.org/clinvar/191716 ^@ NM_002471.3(MYH6):c.3448G>A (p.Glu1150Lys) http://identifiers.org/clinvar/191717 ^@ NM_002471.3(MYH6):c.3346C>A (p.Arg1116Ser) http://identifiers.org/clinvar/192122 ^@ NM_002471.3(MYH6):c.2591C>T (p.Thr864Met) http://identifiers.org/clinvar/191718 ^@ NM_002471.3(MYH6):c.2575G>T (p.Gly859Trp) http://identifiers.org/clinvar/192123 ^@ NM_002471.3(MYH6):c.2206C>A (p.Gln736Lys) http://identifiers.org/clinvar/191719 ^@ NM_002471.3(MYH6):c.1713dupG (p.Lys573Glufs) http://identifiers.org/clinvar/191720 ^@ NM_002471.3(MYH6):c.1328G>A (p.Arg443His) http://identifiers.org/clinvar/191721 ^@ NM_002471.3(MYH6):c.731G>A (p.Arg244His) http://identifiers.org/clinvar/191722 ^@ NM_002471.3(MYH6):c.421G>A (p.Ala141Thr) http://identifiers.org/clinvar/191723 ^@ NM_002471.3(MYH6):c.121G>A (p.Asp41Asn) http://identifiers.org/clinvar/191724 ^@ NM_002471.3(MYH6):c.115G>A (p.Val39Met) http://identifiers.org/clinvar/191725 ^@ NM_000257.3(MYH7):c.5527A>G (p.Ser1843Gly) http://identifiers.org/clinvar/191726 ^@ NM_000257.3(MYH7):c.5503G>A (p.Glu1835Lys) http://identifiers.org/clinvar/191727 ^@ NM_000257.3(MYH7):c.4707G>T (p.Lys1569Asn) http://identifiers.org/clinvar/191728 ^@ NM_000257.3(MYH7):c.4321G>T (p.Ala1441Ser) http://identifiers.org/clinvar/191579 ^@ NM_000257.3(MYH7):c.4240C>A (p.Leu1414Met) http://identifiers.org/clinvar/191729 ^@ NM_000257.3(MYH7):c.3730A>C (p.Asn1244His) http://identifiers.org/clinvar/191730 ^@ NM_000257.3(MYH7):c.3442G>A (p.Glu1148Lys) http://identifiers.org/clinvar/191731 ^@ NM_000257.3(MYH7):c.3055A>G (p.Thr1019Ala) http://identifiers.org/clinvar/191732 ^@ NM_000257.3(MYH7):c.2795T>C (p.Met932Thr) http://identifiers.org/clinvar/192191 ^@ NM_000257.3(MYH7):c.1301G>A (p.Arg434Lys) http://identifiers.org/clinvar/191767 ^@ NM_000021.3(PSEN1):c.322C>T (p.Arg108Trp) http://identifiers.org/clinvar/192193 ^@ NM_000021.3(PSEN1):c.782T>G (p.Val261Gly) http://identifiers.org/clinvar/191778 ^@ NM_003239.4(TGFB3):c.559G>A (p.Gly187Ser) http://identifiers.org/clinvar/191779 ^@ NM_003239.4(TGFB3):c.487C>T (p.Arg163Trp) http://identifiers.org/clinvar/192131 ^@ NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) http://identifiers.org/clinvar/191801 ^@ NM_001018005.1(TPM1):c.381G>A (p.Met127Ile) http://identifiers.org/clinvar/191802 ^@ NM_001018005.1(TPM1):c.563+266C>T http://identifiers.org/clinvar/191776 ^@ NM_003673.3(TCAP):c.313G>C (p.Glu105Gln) http://identifiers.org/clinvar/191777 ^@ NM_003673.3(TCAP):c.401C>A (p.Ala134Asp) http://identifiers.org/clinvar/191670 ^@ NM_002230.2(JUP):c.1862T>C (p.Ile621Thr) http://identifiers.org/clinvar/191671 ^@ NM_002230.2(JUP):c.1324A>T (p.Ile442Phe) http://identifiers.org/clinvar/191672 ^@ NM_002230.2(JUP):c.1172G>A (p.Ser391Asn) http://identifiers.org/clinvar/191673 ^@ NM_002230.2(JUP):c.941C>G (p.Ala314Gly) http://identifiers.org/clinvar/191674 ^@ NM_002230.2(JUP):c.746C>T (p.Thr249Met) http://identifiers.org/clinvar/191675 ^@ NM_002230.2(JUP):c.526C>T (p.Arg176Trp) http://identifiers.org/clinvar/191676 ^@ NM_002230.2(JUP):c.352G>A (p.Glu118Lys) http://identifiers.org/clinvar/191677 ^@ NM_002230.2(JUP):c.335A>G (p.Asn112Ser) http://identifiers.org/clinvar/191618 ^@ NM_024422.4(DSC2):c.2509-113_2509-112del http://identifiers.org/clinvar/192114 ^@ NM_024422.4(DSC2):c.2392C>A (p.Arg798=) http://identifiers.org/clinvar/191619 ^@ NM_024422.4(DSC2):c.2335G>A (p.Gly779Arg) http://identifiers.org/clinvar/191620 ^@ NM_024422.4(DSC2):c.2314G>A (p.Val772Met) http://identifiers.org/clinvar/191621 ^@ NM_024422.4(DSC2):c.1707C>A (p.Asp569Glu) http://identifiers.org/clinvar/191622 ^@ NM_024422.4(DSC2):c.1070G>A (p.Arg357His) http://identifiers.org/clinvar/191623 ^@ NM_024422.4(DSC2):c.857G>T (p.Gly286Val) http://identifiers.org/clinvar/191624 ^@ NM_024422.4(DSC2):c.734A>C (p.Glu245Ala) http://identifiers.org/clinvar/191625 ^@ NM_001943.4(DSG2):c.86T>C (p.Leu29Ser) http://identifiers.org/clinvar/191626 ^@ NM_001943.4(DSG2):c.430G>A (p.Glu144Lys) http://identifiers.org/clinvar/191627 ^@ NM_001943.4(DSG2):c.704A>G (p.Tyr235Cys) http://identifiers.org/clinvar/191628 ^@ NM_001943.4(DSG2):c.841G>A (p.Val281Ile) http://identifiers.org/clinvar/191629 ^@ NM_001943.4(DSG2):c.1063G>A (p.Ala355Thr) http://identifiers.org/clinvar/191630 ^@ NM_001943.4(DSG2):c.1346T>G (p.Leu449Arg) http://identifiers.org/clinvar/191631 ^@ NM_001943.4(DSG2):c.1460T>C (p.Ile487Thr) http://identifiers.org/clinvar/192185 ^@ NM_001943.4(DSG2):c.2568A>C (p.Lys856Asn) http://identifiers.org/clinvar/191632 ^@ NM_001943.4(DSG2):c.3266G>T (p.Gly1089Val) http://identifiers.org/clinvar/191633 ^@ NM_001943.4(DSG2):c.3293C>G (p.Ser1098Cys) http://identifiers.org/clinvar/191647 ^@ NM_032978.6(DTNA):c.112G>A (p.Ala38Thr) http://identifiers.org/clinvar/191648 ^@ NM_032978.6(DTNA):c.295A>G (p.Thr99Ala) http://identifiers.org/clinvar/191649 ^@ NM_032978.6(DTNA):c.479G>A (p.Gly160Glu) http://identifiers.org/clinvar/191650 ^@ NM_032978.6(DTNA):c.904G>A (p.Ala302Thr) http://identifiers.org/clinvar/191651 ^@ NM_032978.6(DTNA):c.955A>G (p.Met319Val) http://identifiers.org/clinvar/191652 ^@ NM_032978.6(DTNA):c.1562G>A (p.Arg521His) http://identifiers.org/clinvar/191653 ^@ NM_032978.6(DTNA):c.1605C>T (p.Ser535=) http://identifiers.org/clinvar/191654 ^@ NM_032975.3(DTNA):c.1586C>T (p.Pro529Leu) http://identifiers.org/clinvar/191655 ^@ NM_032975.3(DTNA):c.1625G>A (p.Gly542Glu) http://identifiers.org/clinvar/191656 ^@ NM_032975.3(DTNA):c.1787G>A (p.Arg596Gln) http://identifiers.org/clinvar/192182 ^@ NM_145046.4(CALR3):c.850G>A (p.Asp284Asn) http://identifiers.org/clinvar/192183 ^@ NM_145046.4(CALR3):c.820G>A (p.Val274Ile) http://identifiers.org/clinvar/191613 ^@ NM_145046.4(CALR3):c.215G>A (p.Gly72Asp) http://identifiers.org/clinvar/191614 ^@ NM_145046.4(CALR3):c.189T>G (p.Asp63Glu) http://identifiers.org/clinvar/191799 ^@ NM_000363.4(TNNI3):c.233C>G (p.Thr78Ser) http://identifiers.org/clinvar/191734 ^@ NM_033118.3(MYLK2):c.116C>T (p.Pro39Leu) http://identifiers.org/clinvar/191735 ^@ NM_033118.3(MYLK2):c.134C>T (p.Pro45Leu) http://identifiers.org/clinvar/191736 ^@ NM_033118.3(MYLK2):c.194C>T (p.Thr65Ile) http://identifiers.org/clinvar/191737 ^@ NM_033118.3(MYLK2):c.226C>T (p.Pro76Ser) http://identifiers.org/clinvar/191738 ^@ NM_033118.3(MYLK2):c.552C>A (p.Ser184Arg) http://identifiers.org/clinvar/191739 ^@ NM_033118.3(MYLK2):c.623G>A (p.Gly208Glu) http://identifiers.org/clinvar/191740 ^@ NM_033118.3(MYLK2):c.834T>A (p.Asn278Lys) http://identifiers.org/clinvar/191741 ^@ NM_033118.3(MYLK2):c.1700G>A (p.Arg567Lys) http://identifiers.org/clinvar/191667 ^@ NM_020433.4(JPH2):c.*15A>T http://identifiers.org/clinvar/191668 ^@ NM_020433.4(JPH2):c.1951A>G (p.Lys651Glu) http://identifiers.org/clinvar/191669 ^@ NM_020433.4(JPH2):c.1847G>T (p.Arg616Leu) http://identifiers.org/clinvar/192221 ^@ NM_000251.2(MSH2):c.1223A>T (p.Tyr408Phe) http://identifiers.org/clinvar/192222 ^@ NM_000179.2(MSH6):c.4072A>G (p.Lys1358Glu) http://identifiers.org/clinvar/192220 ^@ NM_000249.3(MLH1):c.37G>A (p.Glu13Lys) http://identifiers.org/clinvar/192223 ^@ NM_000535.6(PMS2):c.2182A>G (p.Thr728Ala) http://identifiers.org/clinvar/192224 ^@ NM_000314.6(PTEN):c.389delG (p.Arg130Glnfs) http://identifiers.org/clinvar/192219 ^@ NM_000059.3(BRCA2):c.8087T>G (p.Leu2696Trp) http://identifiers.org/clinvar/192225 ^@ NM_000455.4(STK11):c.838_839delCCinsGT (p.Pro280Val) http://identifiers.org/clinvar/192227 ^@ NM_000455.4(STK11):c.842delC (p.Pro281Argfs) http://identifiers.org/clinvar/192226 ^@ NM_000455.4(STK11):c.844dupC (p.Leu282Profs) http://identifiers.org/clinvar/192228 ^@ NM_004004.5(GJB2):c.24G>A (p.Thr8=) http://identifiers.org/clinvar/192231 ^@ NM_194292.2(SASS6):c.185T>C (p.Ile62Thr) http://identifiers.org/clinvar/192239 ^@ NM_178454.4(DRAM2):c.494G>A (p.Trp165Ter) http://identifiers.org/clinvar/192237 ^@ NM_178454.4(DRAM2):c.362A>T (p.His121Leu) http://identifiers.org/clinvar/192236 ^@ NM_178454.4(DRAM2):c.217_225delGTTCGTTAT (p.Val73_Tyr75del) http://identifiers.org/clinvar/192233 ^@ NM_178454.4(DRAM2):c.140delG (p.Gly47Valfs) http://identifiers.org/clinvar/192238 ^@ NM_178454.4(DRAM2):c.131G>A (p.Ser44Asn) http://identifiers.org/clinvar/192235 ^@ NM_178454.4(DRAM2):c.79T>C (p.Tyr27His) http://identifiers.org/clinvar/192234 ^@ NM_178454.4(DRAM2):c.64_66delGCT (p.Ala22del) http://identifiers.org/clinvar/192242 ^@ NM_018965.3(TREM2):c.197C>T (p.Thr66Met) http://identifiers.org/clinvar/192241 ^@ NM_018965.3(TREM2):c.113A>G (p.Tyr38Cys) http://identifiers.org/clinvar/192243 ^@ NC_000019.10:g.35905884_35911125del5242 http://identifiers.org/clinvar/192245 ^@ NM_212482.2(FN1):c.5921T>C (p.Leu1974Pro) http://identifiers.org/clinvar/192244 ^@ NM_212482.2(FN1):c.5775G>C (p.Trp1925Cys) http://identifiers.org/clinvar/192246 ^@ NM_212482.2(FN1):c.4414_4416delCCT (p.Pro1472del) http://identifiers.org/clinvar/192251 ^@ NM_001958.3(EEF1A2):c.754G>C (p.Asp252His) http://identifiers.org/clinvar/192252 ^@ NM_001958.3(EEF1A2):c.364G>A (p.Glu122Lys) http://identifiers.org/clinvar/192253 ^@ NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) http://identifiers.org/clinvar/192254 ^@ NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg) http://identifiers.org/clinvar/192255 ^@ NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) http://identifiers.org/clinvar/192256 ^@ NM_145068.3(TRPV3):c.2017C>T (p.Leu673Phe) http://identifiers.org/clinvar/192257 ^@ NM_145068.3(TRPV3):c.1739A>C (p.Gln580Pro) http://identifiers.org/clinvar/192259 ^@ NP_473362.1:p.Asp366Glu http://identifiers.org/clinvar/192260 ^@ NM_004369.3(COL6A3):c.7660G>A (p.Ala2554Thr) http://identifiers.org/clinvar/192261 ^@ NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) http://identifiers.org/clinvar/192262 ^@ NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) http://identifiers.org/clinvar/192263 ^@ NM_004369.3(COL6A3):c.8966-1G>C http://identifiers.org/clinvar/192264 ^@ NM_004369.3(COL6A3):c.7502G>A (p.Arg2501His) http://identifiers.org/clinvar/192271 ^@ NM_199334.3(THRA):c.1176C>A (p.Cys392Ter) http://identifiers.org/clinvar/192272 ^@ NM_199334.3(THRA):c.1207G>A (p.Glu403Lys) http://identifiers.org/clinvar/192273 ^@ NM_199334.3(THRA):c.1193C>G (p.Pro398Arg) http://identifiers.org/clinvar/192274 ^@ NM_001130698.1(TRPC3):c.2285G>A (p.Arg762His) http://identifiers.org/clinvar/192284 ^@ NM_002230.2(JUP):c.*3G>A http://identifiers.org/clinvar/192286 ^@ NM_032790.3(ORAI1):c.261dupA (p.Ala88Serfs) http://identifiers.org/clinvar/192287 ^@ NM_032790.3(ORAI1):c.308C>A (p.Ala103Glu) http://identifiers.org/clinvar/192288 ^@ NM_032790.3(ORAI1):c.581T>C (p.Leu194Pro) http://identifiers.org/clinvar/192292 ^@ NM_004992.3(MECP2):c.1146_*452del768 http://identifiers.org/clinvar/192290 ^@ NM_004992.3(MECP2):c.1163_1283del121insAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro388Glnfs) http://identifiers.org/clinvar/192293 ^@ NM_004992.3(MECP2):c.649C>T (p.Pro217Ser) http://identifiers.org/clinvar/192294 ^@ NM_004992.3(MECP2):c.390delA (p.Ala131Profs) http://identifiers.org/clinvar/192291 ^@ NM_004992.3(MECP2):c.378-42A>G http://identifiers.org/clinvar/192289 ^@ NM_004992.3(MECP2):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/192295 ^@ NM_194277.2(FRMD7):c.556A>G (p.Met186Val) http://identifiers.org/clinvar/192296 ^@ NM_020312.3(COQ9):c.521+1delG http://identifiers.org/clinvar/192297 ^@ NM_000243.2(MEFV):c.1166A>T (p.Asp389Val) http://identifiers.org/clinvar/192298 ^@ NM_000512.4(GALNS):c.542A>G (p.Tyr181Cys) http://identifiers.org/clinvar/192299 ^@ NM_000091.4(COL4A3):c.40_63del24 (p.Leu14_Leu21del) http://identifiers.org/clinvar/192300 ^@ NM_004523.3(KIF11):c.1408G>T (p.Glu470Ter) http://identifiers.org/clinvar/192301 ^@ NM_004523.3(KIF11):c.790-1G>T http://identifiers.org/clinvar/192303 ^@ NM_004736.3(XPR1):c.434T>C (p.Leu145Pro) http://identifiers.org/clinvar/192304 ^@ NM_004736.3(XPR1):c.407G>A (p.Ser136Asn) http://identifiers.org/clinvar/192305 ^@ NM_004736.3(XPR1):c.419T>C (p.Leu140Pro) http://identifiers.org/clinvar/192306 ^@ NM_004736.3(XPR1):c.653T>C (p.Leu218Ser) http://identifiers.org/clinvar/192311 ^@ NM_001001430.2(TNNT2):c.450C>A (p.Asn150Lys) http://identifiers.org/clinvar/192312 ^@ NM_000257.3(MYH7):c.2578A>G (p.Lys860Glu) http://identifiers.org/clinvar/192310 ^@ NM_000257.3(MYH7):c.2225C>A (p.Ala742Glu) http://identifiers.org/clinvar/192308 ^@ NM_000257.3(MYH7):c.1478T>A (p.Met493Lys) http://identifiers.org/clinvar/192309 ^@ NM_000257.3(MYH7):c.556G>C (p.Val186Leu) http://identifiers.org/clinvar/192313 ^@ NM_170707.3(LMNA):c.*747G>A http://identifiers.org/clinvar/192314 ^@ NM_022844.2(MYH11):c.*146C>G http://identifiers.org/clinvar/192315 ^@ NM_018942.2(HMX1):c.650A>C (p.Gln217Pro) http://identifiers.org/clinvar/192316 ^@ NM_000535.6(PMS2):c.2002A>G (p.Ile668Val) http://identifiers.org/clinvar/192317 ^@ NM_014191.3(SCN8A):c.2952C>G (p.Asn984Lys) http://identifiers.org/clinvar/192318 ^@ NM_014191.3(SCN8A):c.4351G>A (p.Gly1451Ser) http://identifiers.org/clinvar/192319 ^@ NM_002528.6(NTHL1):c.268C>T (p.Gln90Ter) http://identifiers.org/clinvar/192320 ^@ NM_001009944.2(PKD1):c.9829C>T (p.Arg3277Cys) http://identifiers.org/clinvar/192322 ^@ NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) http://identifiers.org/clinvar/192323 ^@ NM_017649.4(CNNM2):c.364G>A (p.Glu122Lys) http://identifiers.org/clinvar/192324 ^@ NM_017649.4(CNNM2):c.1069G>A (p.Glu357Lys) http://identifiers.org/clinvar/192325 ^@ NM_017649.4(CNNM2):c.806C>G (p.Ser269Trp) http://identifiers.org/clinvar/192344 ^@ NM_005859.4(PURA):c.4_8delGCGGA (p.Ala2Profs) http://identifiers.org/clinvar/192340 ^@ NM_005859.4(PURA):c.302_310delCTCTCTCCA (p.Thr101_Ser103del) http://identifiers.org/clinvar/192338 ^@ NM_005859.4(PURA):c.305T>G (p.Leu102Arg) http://identifiers.org/clinvar/192345 ^@ NM_005859.4(PURA):c.379dupA (p.Ser127Lysfs) http://identifiers.org/clinvar/192343 ^@ NM_005859.4(PURA):c.419G>C (p.Arg140Pro) http://identifiers.org/clinvar/192334 ^@ NM_005859.4(PURA):c.563T>C (p.Ile188Thr) http://identifiers.org/clinvar/192346 ^@ NM_005859.4(PURA):c.745delG (p.Val249Terfs) http://identifiers.org/clinvar/192347 ^@ NM_198569.2(ADGRG6):c.19C>T (p.Arg7Ter) http://identifiers.org/clinvar/192348 ^@ NM_020455.5(ADGRG6):c.2144dupG (p.Gln716Thrfs) http://identifiers.org/clinvar/192349 ^@ NM_198569.2(ADGRG6):c.2306T>A (p.Val769Glu) http://identifiers.org/clinvar/192350 ^@ NM_001042425.1(TFAP2A):c.637C>A (p.Arg213Ser) http://identifiers.org/clinvar/192351 ^@ NM_001042425.1(TFAP2A):c.629T>A (p.Val210Asp) http://identifiers.org/clinvar/192358 ^@ NM_000076.2(CDKN1C):c.644_649dupCCCCGG (p.Pro216_Asp217insAlaPro) http://identifiers.org/clinvar/192357 ^@ NM_000076.2(CDKN1C):c.641_644delCGGCinsGGG (p.Pro214Argfs) http://identifiers.org/clinvar/192353 ^@ NM_000076.2(CDKN1C):c.611_635dup25 (p.Ala213Glyfs) http://identifiers.org/clinvar/192356 ^@ NM_000076.2(CDKN1C):c.635delC (p.Pro212Argfs) http://identifiers.org/clinvar/192355 ^@ NM_000076.2(CDKN1C):c.631delGinsAA (p.Ala211Asnfs) http://identifiers.org/clinvar/192354 ^@ NM_000076.2(CDKN1C):c.629_630insGCTCCGGCCCC (p.Ala211Leufs) http://identifiers.org/clinvar/192352 ^@ NM_000076.2(CDKN1C):c.449delC (p.Pro150Glnfs) http://identifiers.org/clinvar/192361 ^@ NM_000076.2(CDKN1C):c.836G>T (p.Arg279Leu) http://identifiers.org/clinvar/192362 ^@ NM_001390.4(DTNA):c.-26A>G http://identifiers.org/clinvar/192366 ^@ NM_000682.6(ADRA2B):c.675_686delTGGTGGGGCTTTinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg) http://identifiers.org/clinvar/192368 ^@ NM_003042.3(SLC6A1):c.131G>A (p.Arg44Gln) http://identifiers.org/clinvar/192369 ^@ NM_003042.3(SLC6A1):c.889G>A (p.Gly297Arg) http://identifiers.org/clinvar/192370 ^@ NM_003042.3(SLC6A1):c.1000G>C (p.Ala334Pro) http://identifiers.org/clinvar/192371 ^@ NM_003042.3(SLC6A1):c.1369_1370delGG (p.Gly457Hisfs) http://identifiers.org/clinvar/192372 ^@ NM_003042.3(SLC6A1):c.863C>T (p.Ala288Val) http://identifiers.org/clinvar/192376 ^@ NM_006744.3(RBP4):c.223G>A (p.Ala75Thr) http://identifiers.org/clinvar/192377 ^@ NM_006744.3(RBP4):c.217G>A (p.Ala73Thr) http://identifiers.org/clinvar/192378 ^@ TEX11, 90-KB DEL, EX10-12 http://identifiers.org/clinvar/192379 ^@ NM_001003811.1(TEX11):c.511A>G (p.Met171Val) http://identifiers.org/clinvar/192380 ^@ NM_001003811.1(TEX11):c.2092G>A (p.Ala698Thr) http://identifiers.org/clinvar/192381 ^@ NM_001003811.1(TEX11):c.450C>T (p.Ala150=) http://identifiers.org/clinvar/192382 ^@ NM_006978.2(RNF113A):c.901C>T (p.Gln301Ter) http://identifiers.org/clinvar/192383 ^@ NM_006087.3(TUBB4A):c.568C>T (p.His190Tyr) http://identifiers.org/clinvar/192384 ^@ NM_000135.2(FANCA):c.2557C>T (p.Arg853Ter) http://identifiers.org/clinvar/192385 ^@ FANCA, IVS7DS, G-A, +5 http://identifiers.org/clinvar/192386 ^@ SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION http://identifiers.org/clinvar/192387 ^@ SOX9, 148-KB DUP, UPSTREAM REGULATORY REGION http://identifiers.org/clinvar/192388 ^@ SOX9, 240-KB DEL, UPSTREAM REGULATORY REGION http://identifiers.org/clinvar/192389 ^@ SOX9, 577-KB DEL, UPSTREAM REGULATORY REGION http://identifiers.org/clinvar/192390 ^@ SOX9, 136-KB DEL, UPSTREAM REGULATORY REGION http://identifiers.org/clinvar/192392 ^@ NM_030813.5(CLPB):c.1685delT (p.Ile562Thrfs) http://identifiers.org/clinvar/192393 ^@ NM_013328.3(PYCR2):c.355C>T (p.Arg119Cys) http://identifiers.org/clinvar/192394 ^@ NM_013328.3(PYCR2):c.751C>T (p.Arg251Cys) http://identifiers.org/clinvar/193020 ^@ NM_000921.4(PDE3A):c.1334C>A (p.Thr445Asn) http://identifiers.org/clinvar/193021 ^@ NM_000921.4(PDE3A):c.1333A>G (p.Thr445Ala) http://identifiers.org/clinvar/193022 ^@ NM_000921.4(PDE3A):c.1334C>G (p.Thr445Ser) http://identifiers.org/clinvar/193023 ^@ NM_000921.4(PDE3A):c.1339G>A (p.Ala447Thr) http://identifiers.org/clinvar/193024 ^@ NM_000921.4(PDE3A):c.1340C>T (p.Ala447Val) http://identifiers.org/clinvar/193025 ^@ NM_000921.4(PDE3A):c.1346G>T (p.Gly449Val) http://identifiers.org/clinvar/193026 ^@ NM_033026.5(PCLO):c.10624C>T (p.Arg3542Ter) http://identifiers.org/clinvar/193027 ^@ NM_138395.3(MARS2):c.550C>T (p.Gln184Ter) http://identifiers.org/clinvar/193028 ^@ NM_138395.3(MARS2):c.424C>T (p.Arg142Trp) http://identifiers.org/clinvar/193029 ^@ NC_000004.10:g.(?_69085386)_(69688461_?)del http://identifiers.org/clinvar/194868 ^@ NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) http://identifiers.org/clinvar/193551 ^@ NM_000057.3(BLM):c.2207_2212delATCTGAins7 http://identifiers.org/clinvar/198735 ^@ NM_000487.5(ARSA):c.1408_1418delGCAGCTGTGAC (p.Ala470Leufs) http://identifiers.org/clinvar/193031 ^@ NM_000019.3(ACAT1):c.60G>C (p.Arg20=) http://identifiers.org/clinvar/193032 ^@ NM_000033.3(ABCD1):c.750G>C (p.Val250=) http://identifiers.org/clinvar/193033 ^@ NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys) http://identifiers.org/clinvar/193034 ^@ NM_000033.3(ABCD1):c.707G>A (p.Arg236His) http://identifiers.org/clinvar/193035 ^@ NM_000033.3(ABCD1):c.886T>C (p.Tyr296His) http://identifiers.org/clinvar/193036 ^@ NM_000046.3(ARSB):c.98C>T (p.Ala33Val) http://identifiers.org/clinvar/193037 ^@ NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) http://identifiers.org/clinvar/193038 ^@ NM_000070.2(CAPN3):c.264T>G (p.Phe88Leu) http://identifiers.org/clinvar/193040 ^@ NM_000076.2(CDKN1C):c.612G>A (p.Pro204=) http://identifiers.org/clinvar/193041 ^@ NM_000076.2(CDKN1C):c.528G>C (p.Ala176=) http://identifiers.org/clinvar/193042 ^@ NM_000076.2(CDKN1C):c.512_523delCTCCGGTCGCGG (p.Ala171_Ala174del) http://identifiers.org/clinvar/193044 ^@ NM_000088.3(COL1A1):c.91C>T (p.Gln31Ter) http://identifiers.org/clinvar/193045 ^@ NM_000100.3(CSTB):c.29A>C (p.Gln10Pro) http://identifiers.org/clinvar/193046 ^@ NM_000117.2(EMD):c.-7A>C http://identifiers.org/clinvar/193047 ^@ NM_000118.3(ENG):c.67+5G>A http://identifiers.org/clinvar/193048 ^@ NM_000127.2(EXT1):c.113A>G (p.Glu38Gly) http://identifiers.org/clinvar/193049 ^@ NM_000127.2(EXT1):c.808_810delAGG (p.Arg270del) http://identifiers.org/clinvar/193050 ^@ NM_000144.4(FXN):c.-7G>A http://identifiers.org/clinvar/193051 ^@ NM_000147.4(FUCA1):c.-12T>C http://identifiers.org/clinvar/193052 ^@ NM_000147.4(FUCA1):c.4C>T (p.Arg2Trp) http://identifiers.org/clinvar/193053 ^@ NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) http://identifiers.org/clinvar/193054 ^@ NM_000153.3(GALC):c.169G>A (p.Gly57Ser) http://identifiers.org/clinvar/193055 ^@ NM_000155.3(GALT):c.82+2delT http://identifiers.org/clinvar/193056 ^@ NM_000169.2(GLA):c.124A>C (p.Met42Leu) http://identifiers.org/clinvar/193057 ^@ NM_000169.2(GLA):c.137A>G (p.His46Arg) http://identifiers.org/clinvar/193058 ^@ NM_000169.2(GLA):c.194+17A>G http://identifiers.org/clinvar/193059 ^@ NM_000193.3(SHH):c.271A>G (p.Asn91Asp) http://identifiers.org/clinvar/193061 ^@ NM_000203.4(IDUA):c.152G>A (p.Gly51Asp) http://identifiers.org/clinvar/193062 ^@ NM_000203.4(IDUA):c.53T>C (p.Leu18Pro) http://identifiers.org/clinvar/193063 ^@ NM_000208.3(INSR):c.5C>G (p.Ala2Gly) http://identifiers.org/clinvar/193064 ^@ NM_000232.4(SGCB):c.21_23dupGGC (p.Ala9_Glu10insAla) http://identifiers.org/clinvar/193065 ^@ NM_000232.4(SGCB):c.32dupA (p.Gln12Alafs) http://identifiers.org/clinvar/193066 ^@ NM_000261.1(MYOC):c.227G>A (p.Arg76Lys) http://identifiers.org/clinvar/193067 ^@ NM_000261.1(MYOC):c.366C>T (p.Gly122=) http://identifiers.org/clinvar/193068 ^@ NM_000263.3(NAGLU):c.29T>G (p.Val10Gly) http://identifiers.org/clinvar/193069 ^@ NM_000263.3(NAGLU):c.154G>A (p.Val52Met) http://identifiers.org/clinvar/193070 ^@ NM_000264.3(PTCH1):c.-9_-4delGGCGGC http://identifiers.org/clinvar/193071 ^@ NM_000273.2(GPR143):c.250+11G>C http://identifiers.org/clinvar/193072 ^@ NM_000276.3(OCRL):c.39+10G>A http://identifiers.org/clinvar/193073 ^@ NM_000283.3(PDE6B):c.299G>A (p.Arg100His) http://identifiers.org/clinvar/193074 ^@ NM_000283.3(PDE6B):c.132C>G (p.Cys44Trp) http://identifiers.org/clinvar/193076 ^@ NM_000287.3(PEX6):c.870G>C (p.Glu290Asp) http://identifiers.org/clinvar/193077 ^@ NM_000288.3(PEX7):c.130+10C>A http://identifiers.org/clinvar/193078 ^@ NM_000290.3(PGAM2):c.216C>T (p.Asp72=) http://identifiers.org/clinvar/193079 ^@ NM_000297.3(PKD2):c.305_307dupAGG (p.Glu102_Val103insGlu) http://identifiers.org/clinvar/193080 ^@ NM_000303.2(PMM2):c.61C>T (p.Arg21Trp) http://identifiers.org/clinvar/193081 ^@ NM_000307.4(POU3F4):c.885G>C (p.Thr295=) http://identifiers.org/clinvar/193082 ^@ NM_000321.2(RB1):c.45_53delTGCCGCCGC (p.Ala16_Ala18del) http://identifiers.org/clinvar/193083 ^@ NM_000322.4(PRPH2):c.271T>A (p.Tyr91Asn) http://identifiers.org/clinvar/193084 ^@ NM_000325.5(PITX2):c.17G>T (p.Gly6Val) http://identifiers.org/clinvar/193085 ^@ NM_000327.3(ROM1):c.47G>A (p.Arg16His) http://identifiers.org/clinvar/193086 ^@ NM_000327.3(ROM1):c.81G>T (p.Leu27=) http://identifiers.org/clinvar/193087 ^@ NM_000327.3(ROM1):c.64T>G (p.Trp22Gly) http://identifiers.org/clinvar/193088 ^@ NM_000327.3(ROM1):c.323C>T (p.Thr108Met) http://identifiers.org/clinvar/193089 ^@ NM_000372.4(TYR):c.505_507delGAC (p.Asp169del) http://identifiers.org/clinvar/193090 ^@ NM_000388.3(CASR):c.114T>C (p.Phe38=) http://identifiers.org/clinvar/193091 ^@ NM_000388.3(CASR):c.78C>G (p.Ala26=) http://identifiers.org/clinvar/193093 ^@ NM_000404.3(GLB1):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/193094 ^@ NM_000425.4(L1CAM):c.36C>A (p.Leu12=) http://identifiers.org/clinvar/193095 ^@ NM_000426.3(LAMA2):c.13G>A (p.Ala5Thr) http://identifiers.org/clinvar/193097 ^@ NM_000440.2(PDE6A):c.85C>T (p.Arg29Trp) http://identifiers.org/clinvar/193098 ^@ NM_000440.2(PDE6A):c.251A>T (p.Lys84Met) http://identifiers.org/clinvar/193099 ^@ NM_000440.2(PDE6A):c.304C>A (p.Arg102Ser) http://identifiers.org/clinvar/193101 ^@ NM_000458.3(HNF1B):c.244G>A (p.Asp82Asn) http://identifiers.org/clinvar/193102 ^@ NM_000458.3(HNF1B):c.226G>T (p.Gly76Cys) http://identifiers.org/clinvar/193104 ^@ NM_000512.4(GALNS):c.106_111delCTGCTC (p.Leu36_Leu37del) http://identifiers.org/clinvar/193105 ^@ NM_001077488.3(GNAS):c.-3_-1dupGCC http://identifiers.org/clinvar/193106 ^@ NM_000518.4(HBB):c.9T>C (p.His3=) http://identifiers.org/clinvar/193107 ^@ NM_000523.3(HOXD13):c.204G>A (p.Ala68=) http://identifiers.org/clinvar/193108 ^@ NM_000525.3(KCNJ11):c.10C>A (p.Arg4Ser) http://identifiers.org/clinvar/193109 ^@ NM_000525.3(KCNJ11):c.1123A>G (p.Met375Val) http://identifiers.org/clinvar/193110 ^@ NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) http://identifiers.org/clinvar/193111 ^@ NM_000525.3(KCNJ11):c.821A>G (p.Asp274Gly) http://identifiers.org/clinvar/193112 ^@ NM_000539.3(RHO):c.360C>T (p.Gly120=) http://identifiers.org/clinvar/193113 ^@ NM_000543.4(SMPD1):c.107_118delTGCTGGCGCTGG (p.Val36_Leu39del) http://identifiers.org/clinvar/193114 ^@ NM_000543.4(SMPD1):c.107_124del18 (p.Val36_Leu41del) http://identifiers.org/clinvar/193115 ^@ NM_000543.4(SMPD1):c.103C>G (p.Leu35Val) http://identifiers.org/clinvar/193116 ^@ NM_000543.4(SMPD1):c.138G>T (p.Ala46=) http://identifiers.org/clinvar/193117 ^@ NM_000543.4(SMPD1):c.-12G>A http://identifiers.org/clinvar/193118 ^@ NM_000551.3(VHL):c.245G>C (p.Arg82Pro) http://identifiers.org/clinvar/193119 ^@ NM_000557.4(GDF5):c.462C>A (p.Pro154=) http://identifiers.org/clinvar/193120 ^@ NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) http://identifiers.org/clinvar/193121 ^@ NM_000726.4(CACNB4):c.-10G>A http://identifiers.org/clinvar/193122 ^@ NM_000726.4(CACNB4):c.36G>A (p.Ala12=) http://identifiers.org/clinvar/193123 ^@ NM_000751.2(CHRND):c.44C>T (p.Ala15Val) http://identifiers.org/clinvar/193124 ^@ NM_000784.3(CYP27A1):c.-6C>T http://identifiers.org/clinvar/193125 ^@ NM_000860.5(HPGD):c.93+1_93+3dupGTA http://identifiers.org/clinvar/193126 ^@ NM_000883.3(IMPDH1):c.66_72dupAGCCCGG (p.Gln25Serfs) http://identifiers.org/clinvar/193127 ^@ NM_000900.3(MGP):c.23C>T (p.Ala8Val) http://identifiers.org/clinvar/193128 ^@ NM_001010892.2(RSPH4A):c.650A>C (p.Tyr217Ser) http://identifiers.org/clinvar/193129 ^@ NM_001012331.1(NTRK1):c.53G>A (p.Gly18Glu) http://identifiers.org/clinvar/193130 ^@ NM_001025295.2(IFITM5):c.-10G>A http://identifiers.org/clinvar/193131 ^@ NM_001025295.2(IFITM5):c.80G>C (p.Gly27Ala) http://identifiers.org/clinvar/193132 ^@ NM_001025295.2(IFITM5):c.120G>T (p.Ser40=) http://identifiers.org/clinvar/193133 ^@ NM_001029883.2(C2orf71):c.3668+14T>C http://identifiers.org/clinvar/193134 ^@ NM_001029883.2(C2orf71):c.3058C>A (p.Gln1020Lys) http://identifiers.org/clinvar/193135 ^@ NM_001029883.2(C2orf71):c.3059A>G (p.Gln1020Arg) http://identifiers.org/clinvar/193136 ^@ NM_001029883.2(C2orf71):c.537T>C (p.Pro179=) http://identifiers.org/clinvar/193137 ^@ NM_001029883.2(C2orf71):c.2348T>C (p.Ile783Thr) http://identifiers.org/clinvar/193138 ^@ NM_001029883.2(C2orf71):c.667C>G (p.Leu223Val) http://identifiers.org/clinvar/193139 ^@ NM_001029883.2(C2orf71):c.3178C>A (p.Pro1060Thr) http://identifiers.org/clinvar/193140 ^@ NM_001029883.2(C2orf71):c.3114G>C (p.Val1038=) http://identifiers.org/clinvar/193141 ^@ NM_001029883.2(C2orf71):c.2875G>A (p.Ala959Thr) http://identifiers.org/clinvar/193142 ^@ NM_001029883.2(C2orf71):c.3058_3059delCAinsAG (p.Gln1020Arg) http://identifiers.org/clinvar/193143 ^@ NM_001029883.2(C2orf71):c.2796A>C (p.Gln932His) http://identifiers.org/clinvar/193144 ^@ NM_001029883.2(C2orf71):c.3177T>C (p.Pro1059=) http://identifiers.org/clinvar/193145 ^@ NM_001029883.2(C2orf71):c.2112T>C (p.Asn704=) http://identifiers.org/clinvar/193146 ^@ NM_001029883.2(C2orf71):c.2063G>A (p.Cys688Tyr) http://identifiers.org/clinvar/193147 ^@ NM_001029883.2(C2orf71):c.1882G>A (p.Ala628Thr) http://identifiers.org/clinvar/193148 ^@ NM_001029883.2(C2orf71):c.3089C>T (p.Pro1030Leu) http://identifiers.org/clinvar/193149 ^@ NM_022137.5(SMOC1):c.48G>A (p.Leu16=) http://identifiers.org/clinvar/193150 ^@ NM_001042631.2(SDHAF1):c.269C= (p.Ser90=) http://identifiers.org/clinvar/193151 ^@ NM_001077182.2(FSCN2):c.381G>A (p.Pro127=) http://identifiers.org/clinvar/193152 ^@ NM_001077182.2(FSCN2):c.309G>A (p.Arg103=) http://identifiers.org/clinvar/193153 ^@ NM_001077182.2(FSCN2):c.453C>T (p.Tyr151=) http://identifiers.org/clinvar/193154 ^@ NM_001077416.2(TMEM231):c.141C>T (p.Ser47=) http://identifiers.org/clinvar/193155 ^@ NM_001080463.1(DYNC2H1):c.33C>T (p.Leu11=) http://identifiers.org/clinvar/193156 ^@ NM_001083961.1(WDR62):c.28G>T (p.Ala10Ser) http://identifiers.org/clinvar/193157 ^@ NM_001101426.3(ISPD):c.7G>T (p.Ala3Ser) http://identifiers.org/clinvar/193158 ^@ NM_001101426.3(ISPD):c.79A>C (p.Thr27Pro) http://identifiers.org/clinvar/193159 ^@ NM_001103184.3(FMN1):c.54A>G (p.Lys18=) http://identifiers.org/clinvar/193160 ^@ NM_001103184.3(FMN1):c.1350G>A (p.Ala450=) http://identifiers.org/clinvar/193161 ^@ NM_001103184.3(FMN1):c.1278T>G (p.Ala426=) http://identifiers.org/clinvar/193162 ^@ NM_001103184.3(FMN1):c.894T>A (p.Ile298=) http://identifiers.org/clinvar/193163 ^@ NM_001110792.1(MECP2):c.15_23delCGCCGCCGC (p.Ala6_Ala8del) http://identifiers.org/clinvar/193166 ^@ NM_001111.4(ADAR):c.15+10G>T http://identifiers.org/clinvar/193167 ^@ NM_001111125.2(IQSEC2):c.684C>T (p.Ser228=) http://identifiers.org/clinvar/193168 ^@ NM_001111125.2(IQSEC2):c.222G>C (p.Arg74=) http://identifiers.org/clinvar/193169 ^@ NM_001127221.1(CACNA1A):c.159G>T (p.Ala53=) http://identifiers.org/clinvar/193170 ^@ NM_001127464.2(ZNF469):c.1143C>A (p.Pro381=) http://identifiers.org/clinvar/193171 ^@ NM_001127464.2(ZNF469):c.1827G>A (p.Ser609=) http://identifiers.org/clinvar/193172 ^@ NM_001127464.2(ZNF469):c.2717C>T (p.Pro906Leu) http://identifiers.org/clinvar/193173 ^@ NM_001127464.2(ZNF469):c.3153T>C (p.Ile1051=) http://identifiers.org/clinvar/193174 ^@ NM_001127464.2(ZNF469):c.457C>G (p.Pro153Ala) http://identifiers.org/clinvar/193175 ^@ NM_001127464.2(ZNF469):c.248C>T (p.Pro83Leu) http://identifiers.org/clinvar/193176 ^@ NM_001127464.2(ZNF469):c.1088C>T (p.Ser363Leu) http://identifiers.org/clinvar/193177 ^@ NM_001127464.2(ZNF469):c.1069T>C (p.Ser357Pro) http://identifiers.org/clinvar/193178 ^@ NM_001127464.2(ZNF469):c.1098A>C (p.Arg366Ser) http://identifiers.org/clinvar/193179 ^@ NM_001128228.2(TPRN):c.858C>T (p.Cys286=) http://identifiers.org/clinvar/193180 ^@ NM_001128228.2(TPRN):c.1138G>T (p.Ala380Ser) http://identifiers.org/clinvar/193181 ^@ NM_001128228.2(TPRN):c.559G>T (p.Ala187Ser) http://identifiers.org/clinvar/193182 ^@ NM_001128228.2(TPRN):c.1574G>A (p.Arg525Gln) http://identifiers.org/clinvar/193183 ^@ NM_001134363.2(RBM20):c.32C>T (p.Ala11Val) http://identifiers.org/clinvar/193184 ^@ NM_006920.4(SCN1A):c.6G>T (p.Glu2Asp) http://identifiers.org/clinvar/193185 ^@ NM_001170460.1(CDK16):c.178C>T (p.Pro60Ser) http://identifiers.org/clinvar/193186 ^@ NM_001170629.1(CHD8):c.456A>G (p.Pro152=) http://identifiers.org/clinvar/193187 ^@ NM_001170629.1(CHD8):c.27C>T (p.Phe9=) http://identifiers.org/clinvar/193188 ^@ NM_001173991.2(TMEM216):c.-2G>T http://identifiers.org/clinvar/193189 ^@ NM_001173990.2(TMEM216):c.5T>C (p.Leu2Pro) http://identifiers.org/clinvar/193190 ^@ NM_001184880.1(PCDH19):c.1401G>T (p.Thr467=) http://identifiers.org/clinvar/193191 ^@ NM_001184880.1(PCDH19):c.814C>T (p.Gln272Ter) http://identifiers.org/clinvar/193192 ^@ NM_001184880.1(PCDH19):c.228C>T (p.Pro76=) http://identifiers.org/clinvar/193194 ^@ NM_001184880.1(PCDH19):c.301A>G (p.Ile101Val) http://identifiers.org/clinvar/193195 ^@ NM_001184880.1(PCDH19):c.479G>A (p.Ser160Asn) http://identifiers.org/clinvar/193196 ^@ NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) http://identifiers.org/clinvar/193197 ^@ NM_001184880.1(PCDH19):c.559T>G (p.Phe187Val) http://identifiers.org/clinvar/193198 ^@ NM_001189.3(NKX3-2):c.179C>T (p.Ala60Val) http://identifiers.org/clinvar/193199 ^@ NM_001189.3(NKX3-2):c.-10C>A http://identifiers.org/clinvar/193200 ^@ NM_001189.3(NKX3-2):c.429G>A (p.Ala143=) http://identifiers.org/clinvar/193201 ^@ NM_001189.3(NKX3-2):c.247C>A (p.Arg83=) http://identifiers.org/clinvar/193202 ^@ NM_001189.3(NKX3-2):c.466+18G>A http://identifiers.org/clinvar/193203 ^@ NM_001287.5(CLCN7):c.126T>C (p.Pro42=) http://identifiers.org/clinvar/193204 ^@ NM_001399.4(EDA):c.396+2T>C http://identifiers.org/clinvar/193205 ^@ NM_001453.2(FOXC1):c.171G>C (p.Pro57=) http://identifiers.org/clinvar/193206 ^@ NM_001453.2(FOXC1):c.279C>T (p.Asn93=) http://identifiers.org/clinvar/193207 ^@ NM_001453.2(FOXC1):c.921C>T (p.Gly307=) http://identifiers.org/clinvar/193208 ^@ NM_001453.2(FOXC1):c.78C>T (p.Tyr26=) http://identifiers.org/clinvar/193211 ^@ NM_001453.2(FOXC1):c.1142_1144dupCGG (p.Ala381_Gly382insAla) http://identifiers.org/clinvar/193212 ^@ NM_001453.2(FOXC1):c.1359_1361delCGG (p.Gly456del) http://identifiers.org/clinvar/193213 ^@ NM_001453.2(FOXC1):c.1139_1141dupGCG (p.Gly380_Ala381insGly) http://identifiers.org/clinvar/193215 ^@ NM_001540.3(HSPB1):c.9G>A (p.Glu3=) http://identifiers.org/clinvar/193216 ^@ NM_001845.5(COL4A1):c.19G>C (p.Val7Leu) http://identifiers.org/clinvar/193217 ^@ NM_001852.3(COL9A2):c.31C>T (p.Leu11Phe) http://identifiers.org/clinvar/193218 ^@ NM_001853.3(COL9A3):c.50G>A (p.Gly17Glu) http://identifiers.org/clinvar/193219 ^@ NM_001927.3(DES):c.216C>A (p.Ser72Arg) http://identifiers.org/clinvar/193220 ^@ NM_001999.3(FBN2):c.110C>A (p.Pro37Gln) http://identifiers.org/clinvar/193221 ^@ NM_002076.3(GNS):c.4C>T (p.Arg2Trp) http://identifiers.org/clinvar/193222 ^@ NM_002206.2(ITGA7):c.128G>T (p.Arg43Leu) http://identifiers.org/clinvar/193223 ^@ NM_002247.3(KCNMA1):c.34A>G (p.Ser12Gly) http://identifiers.org/clinvar/193224 ^@ NM_001014797.2(KCNMA1):c.62G>A (p.Ser21Asn) http://identifiers.org/clinvar/193225 ^@ NM_001014797.2(KCNMA1):c.56_57insCGG (p.Gly20_Ser21insGly) http://identifiers.org/clinvar/193226 ^@ NM_001014797.2(KCNMA1):c.138_161del24 (p.Ser53_Ser60del) http://identifiers.org/clinvar/193227 ^@ NM_001014797.2(KCNMA1):c.192C>G (p.Pro64=) http://identifiers.org/clinvar/193228 ^@ NM_002247.3(KCNMA1):c.153_155delTTC (p.Ser60del) http://identifiers.org/clinvar/193230 ^@ NM_001014797.2(KCNMA1):c.162_173delCTCTTCCTCCTC (p.Ser57_Ser60del) http://identifiers.org/clinvar/193231 ^@ NM_002335.3(LRP5):c.58_60dupCTG (p.Leu20_Ala21insLeu) http://identifiers.org/clinvar/193232 ^@ NM_002335.3(LRP5):c.58_60delCTG (p.Leu20del) http://identifiers.org/clinvar/193234 ^@ NM_002427.3(MMP13):c.110A>G (p.Gln37Arg) http://identifiers.org/clinvar/193235 ^@ NM_002618.3(PEX13):c.-6G>C http://identifiers.org/clinvar/193236 ^@ NM_002863.4(PYGL):c.153C>T (p.Asp51=) http://identifiers.org/clinvar/193237 ^@ NM_002863.4(PYGL):c.176C>T (p.Thr59Met) http://identifiers.org/clinvar/193238 ^@ NM_002900.2(RBP3):c.2650G>A (p.Val884Met) http://identifiers.org/clinvar/193239 ^@ NM_002900.2(RBP3):c.837G>A (p.Thr279=) http://identifiers.org/clinvar/193240 ^@ NM_002900.2(RBP3):c.1200G>A (p.Ala400=) http://identifiers.org/clinvar/193241 ^@ NM_002900.2(RBP3):c.1514A>T (p.His505Leu) http://identifiers.org/clinvar/193242 ^@ NM_002900.2(RBP3):c.1093G>A (p.Glu365Lys) http://identifiers.org/clinvar/193243 ^@ NM_002900.2(RBP3):c.2168C>T (p.Pro723Leu) http://identifiers.org/clinvar/193244 ^@ NM_002900.2(RBP3):c.973G>A (p.Ala325Thr) http://identifiers.org/clinvar/193246 ^@ NM_003030.4(SHOX2):c.222C>T (p.Gly74=) http://identifiers.org/clinvar/193247 ^@ NM_003030.4(SHOX2):c.232_233insGAGGAGGTG (p.Gly77_Val78insGlyGlyGly) http://identifiers.org/clinvar/193248 ^@ NM_003036.3(SKI):c.798C>T (p.Ala266=) http://identifiers.org/clinvar/193249 ^@ NM_003036.3(SKI):c.216C>T (p.Pro72=) http://identifiers.org/clinvar/193250 ^@ NM_003060.3(SLC22A5):c.136C>T (p.Pro46Ser) http://identifiers.org/clinvar/193251 ^@ NM_003106.3(SOX2):c.453G>A (p.Ala151=) http://identifiers.org/clinvar/193252 ^@ NM_003106.3(SOX2):c.54G>C (p.Ser18=) http://identifiers.org/clinvar/193253 ^@ NM_003119.3(SPG7):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/193254 ^@ NM_003289.3(TPM2):c.36G>A (p.Lys12=) http://identifiers.org/clinvar/193255 ^@ NM_003701.3(TNFSF11):c.214G>A (p.Ala72Thr) http://identifiers.org/clinvar/193256 ^@ NM_003701.3(TNFSF11):c.80A>G (p.Glu27Gly) http://identifiers.org/clinvar/193257 ^@ NM_003701.3(TNFSF11):c.126T>C (p.Pro42=) http://identifiers.org/clinvar/193258 ^@ NM_003839.3(TNFRSF11A):c.75+5G>A http://identifiers.org/clinvar/193259 ^@ NM_003839.3(TNFRSF11A):c.-9T>C http://identifiers.org/clinvar/193260 ^@ NM_003839.3(TNFRSF11A):c.6C>G (p.Ala2=) http://identifiers.org/clinvar/193261 ^@ NM_003896.3(ST3GAL5):c.37C>T (p.Pro13Ser) http://identifiers.org/clinvar/193262 ^@ NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) http://identifiers.org/clinvar/193263 ^@ NM_004006.2(DMD):c.-1105G>A http://identifiers.org/clinvar/193264 ^@ NM_004006.2(DMD):c.29G>C (p.Cys10Ser) http://identifiers.org/clinvar/193265 ^@ NM_004006.2(DMD):c.-5T>C http://identifiers.org/clinvar/193266 ^@ NM_004006.2(DMD):c.14_15delAAinsT (p.Glu5Valfs) http://identifiers.org/clinvar/193269 ^@ NM_004085.3(TIMM8A):c.39T>G (p.Gly13=) http://identifiers.org/clinvar/193270 ^@ NM_004098.3(EMX2):c.173_178delCCGCCG (p.Ala58_Ala59del) http://identifiers.org/clinvar/193271 ^@ NM_004098.3(EMX2):c.105A>T (p.Ala35=) http://identifiers.org/clinvar/193272 ^@ NM_004260.3(RECQL4):c.82C>T (p.Gln28Ter) http://identifiers.org/clinvar/193273 ^@ NM_004260.3(RECQL4):c.-5G>C http://identifiers.org/clinvar/193274 ^@ NM_004260.3(RECQL4):c.84+17G>A http://identifiers.org/clinvar/193275 ^@ NM_004287.4(GOSR2):c.-12G>C http://identifiers.org/clinvar/193276 ^@ NM_004287.4(GOSR2):c.29+3G>A http://identifiers.org/clinvar/193277 ^@ NM_004316.3(ASCL1):c.172_186delCAGCAGCAGCAGCAG (p.Gln58_Gln62del) http://identifiers.org/clinvar/193279 ^@ NM_004316.3(ASCL1):c.123A>G (p.Ala41=) http://identifiers.org/clinvar/193280 ^@ NM_004333.4(BRAF):c.131C>T (p.Pro44Leu) http://identifiers.org/clinvar/193281 ^@ NM_004333.4(BRAF):c.138+17C>G http://identifiers.org/clinvar/193282 ^@ NM_004463.2(FGD1):c.27C>T (p.Gly9=) http://identifiers.org/clinvar/193283 ^@ NM_004465.1(FGF10):c.97G>A (p.Val33Ile) http://identifiers.org/clinvar/193284 ^@ NM_004519.3(KCNQ3):c.127G>A (p.Val43Met) http://identifiers.org/clinvar/193285 ^@ NM_004530.5(MMP2):c.105C>T (p.Ile35=) http://identifiers.org/clinvar/193286 ^@ NM_004541.3(NDUFA1):c.-4A>G http://identifiers.org/clinvar/193287 ^@ NM_004560.3(ROR2):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/193288 ^@ NM_004612.3(TGFBR1):c.-2C>T http://identifiers.org/clinvar/193289 ^@ NM_004643.3(PABPN1):c.186G>A (p.Leu62=) http://identifiers.org/clinvar/193290 ^@ NM_004715.4(CTDP1):c.186G>C (p.Gly62=) http://identifiers.org/clinvar/193291 ^@ NM_004715.4(CTDP1):c.213G>C (p.Gly71=) http://identifiers.org/clinvar/193292 ^@ NM_004715.4(CTDP1):c.181T>G (p.Ser61Ala) http://identifiers.org/clinvar/193293 ^@ NM_004820.4(CYP7B1):c.56T>C (p.Leu19Pro) http://identifiers.org/clinvar/193294 ^@ NM_004836.6(EIF2AK3):c.270G>C (p.Pro90=) http://identifiers.org/clinvar/193295 ^@ NM_004836.6(EIF2AK3):c.61_63delCTG (p.Leu21del) http://identifiers.org/clinvar/193296 ^@ NM_004836.6(EIF2AK3):c.154G>A (p.Ala52Thr) http://identifiers.org/clinvar/193297 ^@ NM_004977.2(KCNC3):c.188A>G (p.Asp63Gly) http://identifiers.org/clinvar/193298 ^@ NM_005045.3(RELN):c.-9_-1dupGGCGGCGGC http://identifiers.org/clinvar/193299 ^@ NM_005045.3(RELN):c.77C>T (p.Ala26Val) http://identifiers.org/clinvar/193301 ^@ NM_005220.2(DLX3):c.90T>C (p.Pro30=) http://identifiers.org/clinvar/193305 ^@ NM_005249.4(FOXG1):c.206_208dupCGC (p.Pro69_Gln70insPro) http://identifiers.org/clinvar/193306 ^@ NM_005249.4(FOXG1):c.218A>C (p.Gln73Pro) http://identifiers.org/clinvar/193307 ^@ NM_005249.4(FOXG1):c.267C>T (p.Gly89=) http://identifiers.org/clinvar/193308 ^@ NM_005249.4(FOXG1):c.209_232del24 (p.Gln70_Pro77del) http://identifiers.org/clinvar/193309 ^@ NM_005249.4(FOXG1):c.*4C>T http://identifiers.org/clinvar/193310 ^@ NM_005270.4(GLI2):c.132G>A (p.Ala44=) http://identifiers.org/clinvar/193311 ^@ NM_005413.3(SIX3):c.525G>A (p.Gln175=) http://identifiers.org/clinvar/193312 ^@ NM_005413.3(SIX3):c.205_207dupGGC (p.Gly69_Ser70insGly) http://identifiers.org/clinvar/193313 ^@ NM_005413.3(SIX3):c.-2C>G http://identifiers.org/clinvar/193314 ^@ NM_001278182.1(EOMES):c.380_381insCGC (p.Ala130_Thr131insAla) http://identifiers.org/clinvar/193315 ^@ NM_005572.3(LMNA):c.188T>C (p.Ile63Thr) http://identifiers.org/clinvar/193316 ^@ NM_005572.3(LMNA):c.48delC (p.Ser17Alafs) http://identifiers.org/clinvar/193317 ^@ NM_005609.3(PYGM):c.182G>A (p.Arg61His) http://identifiers.org/clinvar/193318 ^@ NM_005634.2(SOX3):c.-4G>A http://identifiers.org/clinvar/193319 ^@ NM_005634.2(SOX3):c.603G>A (p.Lys201=) http://identifiers.org/clinvar/193320 ^@ NM_005634.2(SOX3):c.14G>A (p.Arg5Gln) http://identifiers.org/clinvar/193322 ^@ NM_005634.2(SOX3):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/193323 ^@ NM_005634.2(SOX3):c.856A>G (p.Ser286Gly) http://identifiers.org/clinvar/193324 ^@ NM_005634.2(SOX3):c.84A>C (p.Leu28=) http://identifiers.org/clinvar/193325 ^@ NM_005634.2(SOX3):c.732delAinsCGCC (p.Ala248_Ser249insAla) http://identifiers.org/clinvar/193326 ^@ NM_005670.3(EPM2A):c.235G>C (p.Gly79Arg) http://identifiers.org/clinvar/193327 ^@ NM_005989.3(AKR1D1):c.10A>G (p.Ser4Gly) http://identifiers.org/clinvar/193328 ^@ NM_006017.2(PROM1):c.134A>G (p.Asp45Gly) http://identifiers.org/clinvar/193329 ^@ NM_006017.2(PROM1):c.103G>C (p.Glu35Gln) http://identifiers.org/clinvar/193330 ^@ NM_006017.2(PROM1):c.55T>G (p.Ser19Ala) http://identifiers.org/clinvar/193331 ^@ NM_006017.2(PROM1):c.96G>T (p.Trp32Cys) http://identifiers.org/clinvar/193332 ^@ NM_006204.3(PDE6C):c.205G>A (p.Val69Met) http://identifiers.org/clinvar/193333 ^@ NM_006208.2(ENPP1):c.27C>G (p.Gly9=) http://identifiers.org/clinvar/193334 ^@ NM_006208.2(ENPP1):c.-10C>T http://identifiers.org/clinvar/193335 ^@ NM_006261.4(PROP1):c.96G>A (p.Pro32=) http://identifiers.org/clinvar/193336 ^@ NM_006302.2(MOGS):c.249C>G (p.Ala83=) http://identifiers.org/clinvar/193337 ^@ NM_001281463.1(SMC1A):c.-213C>T http://identifiers.org/clinvar/193338 ^@ NM_001042537.1(SLC9A6):c.73A>C (p.Met25Leu) http://identifiers.org/clinvar/193339 ^@ NM_006371.4(CRTAP):c.213G>A (p.Leu71=) http://identifiers.org/clinvar/193340 ^@ NM_006486.2(FBLN1):c.72G>A (p.Ala24=) http://identifiers.org/clinvar/193341 ^@ NM_006493.2(CLN5):c.22G>T (p.Gly8Trp) http://identifiers.org/clinvar/193342 ^@ NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) http://identifiers.org/clinvar/193343 ^@ NM_006493.2(CLN5):c.77C>A (p.Ala26Glu) http://identifiers.org/clinvar/193344 ^@ NM_006517.4(SLC16A2):c.-102_-97delGGCAGC http://identifiers.org/clinvar/193345 ^@ NM_006517.4(SLC16A2):c.-199G>T http://identifiers.org/clinvar/193346 ^@ NM_006517.4(SLC16A2):c.-222A>T http://identifiers.org/clinvar/193347 ^@ NM_006517.4(SLC16A2):c.316G>C (p.Ala106Pro) http://identifiers.org/clinvar/193348 ^@ NM_006517.4(SLC16A2):c.123C>T (p.Pro41=) http://identifiers.org/clinvar/193349 ^@ NM_006517.4(SLC16A2):c.326G>A (p.Trp109Ter) http://identifiers.org/clinvar/193350 ^@ NM_006517.4(SLC16A2):c.353A>C (p.His118Pro) http://identifiers.org/clinvar/193352 ^@ NM_007129.3(ZIC2):c.171G>C (p.Met57Ile) http://identifiers.org/clinvar/193353 ^@ NM_007255.2(B4GALT7):c.35C>T (p.Pro12Leu) http://identifiers.org/clinvar/193354 ^@ NM_007317.2(KIF22):c.-3G>A http://identifiers.org/clinvar/193356 ^@ NM_012186.2(FOXE3):c.618C>G (p.Ala206=) http://identifiers.org/clinvar/193357 ^@ NM_012186.2(FOXE3):c.510C>T (p.Ala170=) http://identifiers.org/clinvar/193358 ^@ NM_012193.3(FZD4):c.97C>T (p.Pro33Ser) http://identifiers.org/clinvar/193359 ^@ NM_012232.5(CAVIN1):c.168C>A (p.Ser56Arg) http://identifiers.org/clinvar/193360 ^@ NM_012232.5(CAVIN1):c.157C>G (p.Leu53Val) http://identifiers.org/clinvar/193361 ^@ NM_012232.5(CAVIN1):c.356T>A (p.Val119Asp) http://identifiers.org/clinvar/193362 ^@ NM_012254.2(SLC27A5):c.110T>G (p.Leu37Arg) http://identifiers.org/clinvar/193363 ^@ NM_012254.2(SLC27A5):c.335C>T (p.Pro112Leu) http://identifiers.org/clinvar/193364 ^@ NM_012254.2(SLC27A5):c.336G>A (p.Pro112=) http://identifiers.org/clinvar/193365 ^@ NM_012254.2(SLC27A5):c.641C>T (p.Ala214Val) http://identifiers.org/clinvar/193366 ^@ NM_012470.3(TNPO3):c.44T>C (p.Val15Ala) http://identifiers.org/clinvar/193367 ^@ NM_013382.5(POMT2):c.87A>T (p.Ala29=) http://identifiers.org/clinvar/193368 ^@ NM_014028.3(OSTM1):c.221C>G (p.Pro74Arg) http://identifiers.org/clinvar/193369 ^@ NM_014028.3(OSTM1):c.134A>G (p.Asp45Gly) http://identifiers.org/clinvar/193370 ^@ NM_014141.5(CNTNAP2):c.97C>A (p.Gln33Lys) http://identifiers.org/clinvar/193371 ^@ NM_014251.2(SLC25A13):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/193372 ^@ NM_014564.4(LHX3):c.81G>A (p.Ala27=) http://identifiers.org/clinvar/193373 ^@ NM_178138.5(LHX3):c.79+2007T>C http://identifiers.org/clinvar/193374 ^@ NM_014762.3(DHCR24):c.102C>T (p.Phe34=) http://identifiers.org/clinvar/193376 ^@ NM_014918.4(CHSY1):c.39G>A (p.Leu13=) http://identifiers.org/clinvar/193377 ^@ NM_015120.4(ALMS1):c.75_77delGGA (p.Glu29del) http://identifiers.org/clinvar/193378 ^@ NM_015120.4(ALMS1):c.72_77delGGAGGA (p.Glu28_Glu29del) http://identifiers.org/clinvar/193379 ^@ NM_015120.4(ALMS1):c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu) http://identifiers.org/clinvar/193380 ^@ NM_182734.2(PLCB1):c.73G>C (p.Gly25Arg) http://identifiers.org/clinvar/193381 ^@ NM_015311.2(OBSL1):c.119C>G (p.Pro40Arg) http://identifiers.org/clinvar/193382 ^@ NM_015311.2(OBSL1):c.921T>C (p.Leu307=) http://identifiers.org/clinvar/193383 ^@ NM_015311.2(OBSL1):c.600G>A (p.Arg200=) http://identifiers.org/clinvar/193384 ^@ NM_015311.2(OBSL1):c.569C>G (p.Ala190Gly) http://identifiers.org/clinvar/193385 ^@ NM_015311.2(OBSL1):c.75T>G (p.Ser25Arg) http://identifiers.org/clinvar/193386 ^@ NM_015560.2(OPA1):c.22G>T (p.Ala8Ser) http://identifiers.org/clinvar/193387 ^@ NM_015910.5(WDPCP):c.13T>C (p.Phe5Leu) http://identifiers.org/clinvar/193388 ^@ NM_015910.5(WDPCP):c.68C>A (p.Pro23Gln) http://identifiers.org/clinvar/193389 ^@ NM_017882.2(CLN6):c.53C>T (p.Ala18Val) http://identifiers.org/clinvar/193390 ^@ NM_017882.2(CLN6):c.64G>T (p.Ala22Ser) http://identifiers.org/clinvar/193392 ^@ NM_018129.3(PNPO):c.123C>T (p.Tyr41=) http://identifiers.org/clinvar/193393 ^@ NM_018139.2(DNAAF2):c.1584T>A (p.Asn528Lys) http://identifiers.org/clinvar/193394 ^@ NM_018297.3(NGLY1):c.-8G>A http://identifiers.org/clinvar/193395 ^@ NM_018475.4(TMEM165):c.18A>G (p.Pro6=) http://identifiers.org/clinvar/193396 ^@ NM_018668.4(VPS33B):c.-8C>T http://identifiers.org/clinvar/193397 ^@ NM_018714.2(COG1):c.34C>T (p.Arg12Trp) http://identifiers.org/clinvar/193398 ^@ NM_019066.4(MAGEL2):c.1079C>T (p.Ala360Val) http://identifiers.org/clinvar/193399 ^@ NM_019066.4(MAGEL2):c.3017C>G (p.Thr1006Ser) http://identifiers.org/clinvar/193400 ^@ NM_019066.4(MAGEL2):c.2074G>A (p.Val692Ile) http://identifiers.org/clinvar/193401 ^@ NM_019066.4(MAGEL2):c.1286C>T (p.Pro429Leu) http://identifiers.org/clinvar/193402 ^@ NM_019066.4(MAGEL2):c.1423G>T (p.Ala475Ser) http://identifiers.org/clinvar/193403 ^@ NM_019066.4(MAGEL2):c.901C>T (p.Pro301Ser) http://identifiers.org/clinvar/193404 ^@ NM_019066.4(MAGEL2):c.1332_1352del21 (p.Pro456_Pro462del) http://identifiers.org/clinvar/193405 ^@ NM_019066.4(MAGEL2):c.2281G>C (p.Ala761Pro) http://identifiers.org/clinvar/193406 ^@ NM_019066.4(MAGEL2):c.1175C>T (p.Thr392Met) http://identifiers.org/clinvar/193407 ^@ NM_019066.4(MAGEL2):c.448T>C (p.Ser150Pro) http://identifiers.org/clinvar/193408 ^@ NM_019066.4(MAGEL2):c.42G>A (p.Pro14=) http://identifiers.org/clinvar/193409 ^@ NM_019066.4(MAGEL2):c.2784C>T (p.Ile928=) http://identifiers.org/clinvar/193410 ^@ NM_019066.4(MAGEL2):c.474A>G (p.Pro158=) http://identifiers.org/clinvar/193411 ^@ NM_019066.4(MAGEL2):c.406G>A (p.Gly136Arg) http://identifiers.org/clinvar/193412 ^@ NM_019066.4(MAGEL2):c.509_538del30 (p.Ala170_Met179del) http://identifiers.org/clinvar/193413 ^@ NM_019066.4(MAGEL2):c.2738C>T (p.Pro913Leu) http://identifiers.org/clinvar/193414 ^@ NM_019066.4(MAGEL2):c.1304C>T (p.Pro435Leu) http://identifiers.org/clinvar/193415 ^@ NM_019066.4(MAGEL2):c.2660G>A (p.Arg887Gln) http://identifiers.org/clinvar/193416 ^@ NM_019066.4(MAGEL2):c.2919G>A (p.Pro973=) http://identifiers.org/clinvar/193417 ^@ NM_019066.4(MAGEL2):c.3570G>A (p.Leu1190=) http://identifiers.org/clinvar/193418 ^@ NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) http://identifiers.org/clinvar/193419 ^@ NM_019109.4(ALG1):c.15C>A (p.Cys5Ter) http://identifiers.org/clinvar/193420 ^@ NM_019109.4(ALG1):c.208+13G>A http://identifiers.org/clinvar/193421 ^@ NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) http://identifiers.org/clinvar/193422 ^@ NM_019109.4(ALG1):c.19G>A (p.Val7Ile) http://identifiers.org/clinvar/193424 ^@ NM_020184.3(CNNM4):c.-14A>C http://identifiers.org/clinvar/193425 ^@ NM_020223.3(FAM20C):c.604T>G (p.Trp202Gly) http://identifiers.org/clinvar/193426 ^@ NM_020223.3(FAM20C):c.46G>T (p.Val16Leu) http://identifiers.org/clinvar/193427 ^@ NM_020361.4(CPA6):c.54delC (p.Trp19Glyfs) http://identifiers.org/clinvar/193428 ^@ NM_020451.2(SELENON):c.14G>A (p.Arg5Gln) http://identifiers.org/clinvar/193429 ^@ NM_020451.2(SELENON):c.44_72dup29 (p.Arg25Alafs) http://identifiers.org/clinvar/193430 ^@ NM_020451.2(SELENON):c.-19G>C http://identifiers.org/clinvar/193431 ^@ NM_020451.2(SELENON):c.183+14C>G http://identifiers.org/clinvar/193432 ^@ NM_020451.2(SELENON):c.13_22dupCGGCCGGGCC (p.Gln8Profs) http://identifiers.org/clinvar/193433 ^@ NM_020549.4(CHAT):c.-10T>G http://identifiers.org/clinvar/193434 ^@ NM_020549.4(CHAT):c.-17G>A http://identifiers.org/clinvar/193435 ^@ NM_020751.2(COG6):c.-17dupG http://identifiers.org/clinvar/193436 ^@ NM_020751.2(COG6):c.28G>A (p.Ala10Thr) http://identifiers.org/clinvar/193437 ^@ NM_020751.2(COG6):c.94T>A (p.Cys32Ser) http://identifiers.org/clinvar/193438 ^@ NM_001145079.1(COG6):c.112A>T (p.Lys38Ter) http://identifiers.org/clinvar/193439 ^@ NM_020822.2(KCNT1):c.99A>G (p.Gln33=) http://identifiers.org/clinvar/193440 ^@ NM_020822.2(KCNT1):c.30G>A (p.Pro10=) http://identifiers.org/clinvar/193441 ^@ NM_021072.3(HCN1):c.215_223delGCGGCGGCG (p.Gly72_Gly74del) http://identifiers.org/clinvar/193442 ^@ NM_021072.3(HCN1):c.140G>T (p.Gly47Val) http://identifiers.org/clinvar/193443 ^@ NM_021072.3(HCN1):c.336C>A (p.Arg112=) http://identifiers.org/clinvar/193444 ^@ NM_021072.3(HCN1):c.223_224insGCGGCGGCG (p.Gly74_Glu75insGlyGlyGly) http://identifiers.org/clinvar/193445 ^@ NM_021120.3(DLG3):c.197C>T (p.Thr66Ile) http://identifiers.org/clinvar/193446 ^@ NM_001291415.1(KDM6A):c.48_50dupCGC (p.Ala17_Phe18insAla) http://identifiers.org/clinvar/193447 ^@ NM_022039.3(FBXW4):c.69C>G (p.Ala23=) http://identifiers.org/clinvar/193448 ^@ NM_022039.3(FBXW4):c.7G>C (p.Ala3Pro) http://identifiers.org/clinvar/193449 ^@ NM_022039.3(FBXW4):c.-5T>A http://identifiers.org/clinvar/193450 ^@ NM_022437.2(ABCG8):c.-19T>G http://identifiers.org/clinvar/193451 ^@ NM_022437.2(ABCG8):c.51C>A (p.Pro17=) http://identifiers.org/clinvar/193452 ^@ NM_024408.3(NOTCH2):c.15C>G (p.Arg5=) http://identifiers.org/clinvar/193453 ^@ NM_024426.4(WT1):c.108G>C (p.Pro36=) http://identifiers.org/clinvar/193454 ^@ NM_024426.4(WT1):c.330C>T (p.Pro110=) http://identifiers.org/clinvar/193455 ^@ NM_024592.4(SRD5A3):c.51G>T (p.Ala17=) http://identifiers.org/clinvar/193456 ^@ NM_024592.4(SRD5A3):c.43C>T (p.Leu15=) http://identifiers.org/clinvar/193457 ^@ NM_024649.4(BBS1):c.24T>C (p.Asp8=) http://identifiers.org/clinvar/193458 ^@ NM_024809.4(TCTN2):c.-2G>A http://identifiers.org/clinvar/193459 ^@ NM_025074.6(FRAS1):c.39G>A (p.Ala13=) http://identifiers.org/clinvar/193460 ^@ NM_025074.6(FRAS1):c.71C>A (p.Ser24Tyr) http://identifiers.org/clinvar/193461 ^@ NM_025237.2(SOST):c.-10G>A http://identifiers.org/clinvar/193462 ^@ NM_031433.3(MFRP):c.38C>A (p.Ala13Glu) http://identifiers.org/clinvar/193463 ^@ NM_031443.3(CCM2):c.30+5_30+6delGCinsTT http://identifiers.org/clinvar/193464 ^@ NM_032119.3(ADGRV1):c.22+9T>C http://identifiers.org/clinvar/193465 ^@ NM_032180.2(FAM161A):c.176G>A (p.Gly59Glu) http://identifiers.org/clinvar/193466 ^@ NM_001201543.1(FAM161A):c.165G= (p.Ala55=) http://identifiers.org/clinvar/193467 ^@ NM_032575.2(GLIS2):c.-9C>G http://identifiers.org/clinvar/193468 ^@ NM_032575.2(GLIS2):c.15C>T (p.Asp5=) http://identifiers.org/clinvar/193469 ^@ NM_032790.3(ORAI1):c.132_137delACCGCC (p.Pro46_Pro47del) http://identifiers.org/clinvar/193470 ^@ NM_032790.3(ORAI1):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/193471 ^@ NM_033028.4(BBS4):c.24+8C>T http://identifiers.org/clinvar/193472 ^@ NM_033028.4(BBS4):c.-17C>T http://identifiers.org/clinvar/193473 ^@ NM_033087.3(ALG2):c.84C>G (p.Gly28=) http://identifiers.org/clinvar/193474 ^@ NM_001171971.2(CDHR1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/193475 ^@ NM_033100.3(CDHR1):c.-1C>T http://identifiers.org/clinvar/193476 ^@ NM_033337.2(CAV3):c.-2C>T http://identifiers.org/clinvar/193477 ^@ NM_080605.3(B3GALT6):c.909G>A (p.Glu303=) http://identifiers.org/clinvar/193478 ^@ NM_080605.3(B3GALT6):c.138C>T (p.Ser46=) http://identifiers.org/clinvar/193479 ^@ NM_080605.3(B3GALT6):c.22T>G (p.Trp8Gly) http://identifiers.org/clinvar/193480 ^@ NM_080669.5(SLC46A1):c.22C>T (p.Pro8Ser) http://identifiers.org/clinvar/193481 ^@ NM_080669.5(SLC46A1):c.158C>T (p.Ala53Val) http://identifiers.org/clinvar/193482 ^@ NM_080916.2(DGUOK):c.4G>T (p.Ala2Ser) http://identifiers.org/clinvar/193483 ^@ NM_130468.3(CHST14):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/193484 ^@ NM_130468.3(CHST14):c.567delG (p.Phe190Serfs) http://identifiers.org/clinvar/193485 ^@ NM_133497.3(KCNV2):c.48G>C (p.Trp16Cys) http://identifiers.org/clinvar/193486 ^@ NM_133497.3(KCNV2):c.957G>A (p.Leu319=) http://identifiers.org/clinvar/193487 ^@ NM_133497.3(KCNV2):c.58G>A (p.Glu20Lys) http://identifiers.org/clinvar/193488 ^@ NM_133497.3(KCNV2):c.144G>A (p.Glu48=) http://identifiers.org/clinvar/193489 ^@ NM_133497.3(KCNV2):c.706A>G (p.Met236Val) http://identifiers.org/clinvar/193490 ^@ NM_133497.3(KCNV2):c.441C>A (p.Asp147Glu) http://identifiers.org/clinvar/193491 ^@ NM_006950.3(SYN1):c.316G>T (p.Ala106Ser) http://identifiers.org/clinvar/193492 ^@ NM_006950.3(SYN1):c.138C>G (p.Pro46=) http://identifiers.org/clinvar/193493 ^@ NM_133647.1(SLC12A6):c.230C>G (p.Pro77Arg) http://identifiers.org/clinvar/193494 ^@ NM_139058.2(ARX):c.30C>A (p.Cys10Ter) http://identifiers.org/clinvar/193495 ^@ NM_144599.4(NIPA1):c.45_47delGGC (p.Ala16del) http://identifiers.org/clinvar/193496 ^@ NM_144599.4(NIPA1):c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) http://identifiers.org/clinvar/193497 ^@ NM_145167.2(PIGM):c.137G>A (p.Arg46Lys) http://identifiers.org/clinvar/193498 ^@ NM_145167.2(PIGM):c.819G>A (p.Pro273=) http://identifiers.org/clinvar/193499 ^@ NM_145200.3(CABP4):c.155G>A (p.Arg52Gln) http://identifiers.org/clinvar/193500 ^@ NM_145200.3(CABP4):c.187G>A (p.Gly63Ser) http://identifiers.org/clinvar/193501 ^@ NM_145200.3(CABP4):c.102G>A (p.Glu34=) http://identifiers.org/clinvar/193502 ^@ NM_147127.4(EVC2):c.18C>T (p.Ser6=) http://identifiers.org/clinvar/193503 ^@ NM_147127.4(EVC2):c.122C>A (p.Pro41His) http://identifiers.org/clinvar/193504 ^@ NM_153240.4(NPHP3):c.105G>A (p.Lys35=) http://identifiers.org/clinvar/193505 ^@ NM_153240.4(NPHP3):c.273delC (p.Tyr91Terfs) http://identifiers.org/clinvar/193506 ^@ NM_153638.3(PANK2):c.332T>A (p.Leu111Gln) http://identifiers.org/clinvar/193507 ^@ NM_153704.5(TMEM67):c.25G>A (p.Val9Met) http://identifiers.org/clinvar/193508 ^@ NM_153717.2(EVC):c.8G>C (p.Arg3Pro) http://identifiers.org/clinvar/193509 ^@ NM_173660.4(DOK7):c.-6C>G http://identifiers.org/clinvar/193510 ^@ NM_182894.2(VSX2):c.336G>A (p.Ser112=) http://identifiers.org/clinvar/193511 ^@ NM_000935.2(PLOD2):c.-4G>A http://identifiers.org/clinvar/193513 ^@ NM_198270.3(NHS):c.565+7A>C http://identifiers.org/clinvar/193514 ^@ NM_198270.3(NHS):c.147C>T (p.Val49=) http://identifiers.org/clinvar/193515 ^@ NM_198270.3(NHS):c.401G>A (p.Arg134His) http://identifiers.org/clinvar/193516 ^@ NM_198270.3(NHS):c.49C>T (p.Arg17Trp) http://identifiers.org/clinvar/193517 ^@ NM_198586.2(NHLRC1):c.664G>T (p.Glu222Ter) http://identifiers.org/clinvar/193518 ^@ NM_198586.2(NHLRC1):c.46A>G (p.Met16Val) http://identifiers.org/clinvar/193519 ^@ NM_001030311.2(CERKL):c.27G>A (p.Arg9=) http://identifiers.org/clinvar/193520 ^@ NM_201548.4(CERKL):c.66C>G (p.Pro22=) http://identifiers.org/clinvar/193521 ^@ NM_203288.1(RP9):c.34G>A (p.Ala12Thr) http://identifiers.org/clinvar/193522 ^@ NM_207346.2(TSEN54):c.6G>C (p.Glu2Asp) http://identifiers.org/clinvar/193524 ^@ NM_207361.5(FREM2):c.2740T>G (p.Cys914Gly) http://identifiers.org/clinvar/193525 ^@ NM_207361.5(FREM2):c.3209T>C (p.Phe1070Ser) http://identifiers.org/clinvar/193526 ^@ NM_207361.5(FREM2):c.4567C>T (p.Arg1523Cys) http://identifiers.org/clinvar/193527 ^@ NM_207361.5(FREM2):c.177T>C (p.Gly59=) http://identifiers.org/clinvar/193528 ^@ NM_207361.5(FREM2):c.2367G>A (p.Pro789=) http://identifiers.org/clinvar/193529 ^@ NM_207361.5(FREM2):c.2823C>T (p.Pro941=) http://identifiers.org/clinvar/193530 ^@ NM_207361.5(FREM2):c.1580C>T (p.Ser527Leu) http://identifiers.org/clinvar/193531 ^@ NM_207361.5(FREM2):c.4283G>A (p.Gly1428Glu) http://identifiers.org/clinvar/193532 ^@ NM_207361.5(FREM2):c.2128C>T (p.Arg710Cys) http://identifiers.org/clinvar/193533 ^@ NM_207361.5(FREM2):c.84C>G (p.Pro28=) http://identifiers.org/clinvar/193534 ^@ NM_207361.5(FREM2):c.5003G>A (p.Arg1668His) http://identifiers.org/clinvar/193535 ^@ NM_207361.5(FREM2):c.1542C>T (p.Ala514=) http://identifiers.org/clinvar/193536 ^@ NM_207361.5(FREM2):c.2233C= (p.Pro745=) http://identifiers.org/clinvar/193537 ^@ NM_207361.5(FREM2):c.2250C>T (p.Asp750=) http://identifiers.org/clinvar/193538 ^@ NM_207361.5(FREM2):c.303C>A (p.Pro101=) http://identifiers.org/clinvar/193539 ^@ NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) http://identifiers.org/clinvar/193540 ^@ NM_000017.3(ACADS):c.*5G>A http://identifiers.org/clinvar/193541 ^@ NM_000018.3(ACADVL):c.1066A>G (p.Ile356Val) http://identifiers.org/clinvar/193542 ^@ NM_000019.3(ACAT1):c.941-14C>T http://identifiers.org/clinvar/193543 ^@ NM_000019.3(ACAT1):c.941-7delT http://identifiers.org/clinvar/193544 ^@ NM_000022.3(ADA):c.956_960delAAGAG (p.Glu319Glyfs) http://identifiers.org/clinvar/193545 ^@ NM_000026.3(ADSL):c.1060A>G (p.Thr354Ala) http://identifiers.org/clinvar/193546 ^@ NM_000033.3(ABCD1):c.2006_2007delAC (p.His669Leufs) http://identifiers.org/clinvar/193547 ^@ NM_000033.3(ABCD1):c.1992-2A>G http://identifiers.org/clinvar/193548 ^@ NM_000033.3(ABCD1):c.2237G>C (p.Ter746Ser) http://identifiers.org/clinvar/193549 ^@ NM_000033.3(ABCD1):c.1992-15C>T http://identifiers.org/clinvar/193550 ^@ NM_000050.4(ASS1):c.688+4T>C http://identifiers.org/clinvar/193552 ^@ NM_000059.3(BRCA2):c.1661G>T (p.Cys554Phe) http://identifiers.org/clinvar/193553 ^@ NM_000059.3(BRCA2):c.1039C>A (p.Gln347Lys) http://identifiers.org/clinvar/193554 ^@ NM_000059.3(BRCA2):c.1909+11C>T http://identifiers.org/clinvar/193555 ^@ NM_000059.3(BRCA2):c.1909+9G>T http://identifiers.org/clinvar/193557 ^@ NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) http://identifiers.org/clinvar/193559 ^@ NM_000155.3(GALT):c.1052delC (p.Pro351Leufs) http://identifiers.org/clinvar/193560 ^@ NM_000155.3(GALT):c.905-1G>A http://identifiers.org/clinvar/193561 ^@ NM_000159.3(GCDH):c.997C>G (p.Gln333Glu) http://identifiers.org/clinvar/193562 ^@ NM_000159.3(GCDH):c.1011A>G (p.Ala337=) http://identifiers.org/clinvar/193563 ^@ NM_000181.3(GUSB):c.1534G>A (p.Gly512Arg) http://identifiers.org/clinvar/193564 ^@ NM_000182.4(HADHA):c.919-2A>G http://identifiers.org/clinvar/193565 ^@ NM_000208.3(INSR):c.2193G>A (p.Thr731=) http://identifiers.org/clinvar/193566 ^@ NM_000214.2(JAG1):c.1326G>A (p.Trp442Ter) http://identifiers.org/clinvar/193567 ^@ NM_000235.3(LIPA):c.1113A>G (p.Glu371=) http://identifiers.org/clinvar/193568 ^@ NM_000272.3(NPHP1):c.1109C>G (p.Ala370Gly) http://identifiers.org/clinvar/193569 ^@ NM_000272.3(NPHP1):c.1035A>G (p.Gln345=) http://identifiers.org/clinvar/193570 ^@ NM_000272.3(NPHP1):c.1080A>G (p.Gln360=) http://identifiers.org/clinvar/193571 ^@ NM_000274.3(OAT):c.1224T>C (p.His408=) http://identifiers.org/clinvar/193572 ^@ NM_000275.2(OCA2):c.1045-9T>G http://identifiers.org/clinvar/193573 ^@ NM_000275.2(OCA2):c.1113C>T (p.Gly371=) http://identifiers.org/clinvar/193574 ^@ NM_000275.2(OCA2):c.1103C>T (p.Ala368Val) http://identifiers.org/clinvar/193575 ^@ NM_000280.4(PAX6):c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs) http://identifiers.org/clinvar/193576 ^@ NM_000282.3(PCCA):c.775_779delCTAAT (p.Leu259Argfs) http://identifiers.org/clinvar/193577 ^@ NM_000294.2(PHKG2):c.1133C>T (p.Pro378Leu) http://identifiers.org/clinvar/193578 ^@ NM_000328.2(RPGR):c.1066T>C (p.Cys356Arg) http://identifiers.org/clinvar/193579 ^@ NM_000350.2(ABCA4):c.1356+10dupG http://identifiers.org/clinvar/193580 ^@ NM_000350.2(ABCA4):c.1253T>C (p.Phe418Ser) http://identifiers.org/clinvar/193582 ^@ NM_033290.3(MID1):c.1767T>C (p.Asn589=) http://identifiers.org/clinvar/193583 ^@ NM_000391.3(TPP1):c.1241A>T (p.Asn414Ile) http://identifiers.org/clinvar/193584 ^@ NM_000404.3(GLB1):c.1068G>A (p.Lys356=) http://identifiers.org/clinvar/193585 ^@ NM_000431.3(MVK):c.924C>T (p.Leu308=) http://identifiers.org/clinvar/193586 ^@ NM_000445.4(PLEC):c.1014C>T (p.Phe338=) http://identifiers.org/clinvar/193587 ^@ NM_001128177.1(THRB):c.1145-5C>T http://identifiers.org/clinvar/193588 ^@ NM_000492.3(CFTR):c.1254T>C (p.Asn418=) http://identifiers.org/clinvar/193589 ^@ NM_000492.3(CFTR):c.1360_1362delTTG (p.Leu454del) http://identifiers.org/clinvar/193590 ^@ NM_000492.3(CFTR):c.1210-14_1210-13insTG http://identifiers.org/clinvar/193592 ^@ NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) http://identifiers.org/clinvar/193593 ^@ NM_000492.3(CFTR):c.1365G>T (p.Ala455=) http://identifiers.org/clinvar/193594 ^@ NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) http://identifiers.org/clinvar/193595 ^@ NM_000500.7(CYP21A2):c.1306C>T (p.Arg436Cys) http://identifiers.org/clinvar/193596 ^@ NM_000500.7(CYP21A2):c.1481G>A (p.Ser494Asn) http://identifiers.org/clinvar/193597 ^@ NM_000512.4(GALNS):c.1127G>A (p.Arg376Gln) http://identifiers.org/clinvar/193599 ^@ NM_000532.4(PCCB):c.1027G>C (p.Gly343Arg) http://identifiers.org/clinvar/193600 ^@ NM_000540.2(RYR1):c.957+5_957+29del25 http://identifiers.org/clinvar/193601 ^@ NM_000540.2(RYR1):c.845G>A (p.Arg282Gln) http://identifiers.org/clinvar/193602 ^@ NM_000548.4(TSC2):c.855C>T (p.Tyr285=) http://identifiers.org/clinvar/193603 ^@ NM_000751.2(CHRND):c.1105C>T (p.Pro369Ser) http://identifiers.org/clinvar/193604 ^@ NM_000751.2(CHRND):c.1104A>G (p.Gly368=) http://identifiers.org/clinvar/193605 ^@ NM_000806.5(GABRA1):c.857-9dupT http://identifiers.org/clinvar/193606 ^@ NM_000806.5(GABRA1):c.857-9delT http://identifiers.org/clinvar/193607 ^@ NM_000823.3(GHRHR):c.885G>T (p.Val295=) http://identifiers.org/clinvar/193608 ^@ NM_000843.3(GRM6):c.2610C>T (p.Gly870=) http://identifiers.org/clinvar/193609 ^@ NM_000875.4(IGF1R):c.2121C>T (p.Ala707=) http://identifiers.org/clinvar/193610 ^@ NM_000883.3(IMPDH1):c.1074+6_1074+7delGCinsTT http://identifiers.org/clinvar/193611 ^@ NM_000157.3(GBA):c.1265_1319del55 (p.Leu422Profs) http://identifiers.org/clinvar/193612 ^@ NM_001023570.3(IQCB1):c.877-10G>A http://identifiers.org/clinvar/193613 ^@ NM_000480.2(AMPD3):c.1472C>T (p.Ser491Leu) http://identifiers.org/clinvar/193614 ^@ NM_000402.4(G6PD):c.1335C>T (p.Pro445=) http://identifiers.org/clinvar/193615 ^@ NM_000086.2(CLN3):c.754C>T (p.Pro252Ser) http://identifiers.org/clinvar/193616 ^@ NM_001042432.1(CLN3):c.776C>T (p.Pro259Leu) http://identifiers.org/clinvar/193617 ^@ NM_001044385.2(TMEM237):c.871A>G (p.Ile291Val) http://identifiers.org/clinvar/193618 ^@ NM_001130966.2(TBXAS1):c.1162G>A (p.Glu388Lys) http://identifiers.org/clinvar/193620 ^@ NM_001080522.2(CC2D2A):c.832C>T (p.Arg278Trp) http://identifiers.org/clinvar/193621 ^@ NM_001135659.2(NRXN1):c.1502C>T (p.Pro501Leu) http://identifiers.org/clinvar/193622 ^@ NM_001135659.2(NRXN1):c.1808T>C (p.Ile603Thr) http://identifiers.org/clinvar/193623 ^@ NM_001135659.2(NRXN1):c.1651A>G (p.Thr551Ala) http://identifiers.org/clinvar/193624 ^@ NM_001135659.2(NRXN1):c.1446A>C (p.Val482=) http://identifiers.org/clinvar/193625 ^@ NM_001277115.1(DNAH11):c.1720A>G (p.Ile574Val) http://identifiers.org/clinvar/193626 ^@ NM_001278939.1(ELN):c.493G>T (p.Val165Leu) http://identifiers.org/clinvar/193627 ^@ NM_001287.5(CLCN7):c.900G>A (p.Ala300=) http://identifiers.org/clinvar/193628 ^@ NM_001297.4(CNGB1):c.634A>T (p.Thr212Ser) http://identifiers.org/clinvar/193629 ^@ NM_001369.2(DNAH5):c.1251C>T (p.Thr417=) http://identifiers.org/clinvar/193630 ^@ NM_001457.3(FLNB):c.1559C>T (p.Pro520Leu) http://identifiers.org/clinvar/193631 ^@ NM_001458.4(FLNC):c.1600G>A (p.Glu534Lys) http://identifiers.org/clinvar/193632 ^@ NM_001458.4(FLNC):c.1577G>A (p.Arg526Gln) http://identifiers.org/clinvar/193633 ^@ NM_001493.2(GDI1):c.1167C>T (p.Pro389=) http://identifiers.org/clinvar/193634 ^@ NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) http://identifiers.org/clinvar/193635 ^@ NM_001918.3(DBT):c.1210-10_1210-9delTA http://identifiers.org/clinvar/193636 ^@ NM_001918.3(DBT):c.1210-10dupT http://identifiers.org/clinvar/193637 ^@ NM_001999.3(FBN2):c.1365G>T (p.Gly455=) http://identifiers.org/clinvar/193638 ^@ NM_002206.2(ITGA7):c.1410-3delC http://identifiers.org/clinvar/193639 ^@ NM_002335.3(LRP5):c.2220C>T (p.Asn740=) http://identifiers.org/clinvar/193640 ^@ NM_002335.3(LRP5):c.2295G>A (p.Ser765=) http://identifiers.org/clinvar/193641 ^@ NM_002335.3(LRP5):c.2193C>T (p.Asn731=) http://identifiers.org/clinvar/193642 ^@ NM_002335.3(LRP5):c.2236C>T (p.Arg746Trp) http://identifiers.org/clinvar/193643 ^@ NM_002693.2(POLG):c.1837C>T (p.His613Tyr) http://identifiers.org/clinvar/193644 ^@ NM_002863.4(PYGL):c.1093-6C>A http://identifiers.org/clinvar/193645 ^@ NM_002878.3(RAD51D):c.955C>T (p.Gln319Ter) http://identifiers.org/clinvar/193646 ^@ NM_002951.4(RPN2):c.1118T>C (p.Val373Ala) http://identifiers.org/clinvar/193647 ^@ NM_002977.3(SCN9A):c.1109C>T (p.Thr370Met) http://identifiers.org/clinvar/193648 ^@ NM_002977.3(SCN9A):c.1238T>C (p.Ile413Thr) http://identifiers.org/clinvar/193649 ^@ NM_002977.3(SCN9A):c.1149C>T (p.Val383=) http://identifiers.org/clinvar/193650 ^@ NM_002977.3(SCN9A):c.1314+7T>C http://identifiers.org/clinvar/193651 ^@ NM_003159.2(CDKL5):c.800A>G (p.Asn267Ser) http://identifiers.org/clinvar/193652 ^@ NM_003193.4(TBCE):c.847A>T (p.Ile283Phe) http://identifiers.org/clinvar/193653 ^@ NM_001079515.2(TBCE):c.898+5A>T http://identifiers.org/clinvar/193654 ^@ NM_003322.5(TULP1):c.961T>G (p.Tyr321Asp) http://identifiers.org/clinvar/193655 ^@ NM_003482.3(KMT2D):c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs) http://identifiers.org/clinvar/193657 ^@ NM_003482.3(KMT2D):c.2368C>T (p.Pro790Ser) http://identifiers.org/clinvar/193658 ^@ NM_003482.3(KMT2D):c.2283_2309del27 (p.Ala765_Gln773del) http://identifiers.org/clinvar/193659 ^@ NM_003482.3(KMT2D):c.2321C>A (p.Pro774His) http://identifiers.org/clinvar/193660 ^@ NM_003482.3(KMT2D):c.2204G>T (p.Cys735Phe) http://identifiers.org/clinvar/193661 ^@ NM_003611.2(OFD1):c.936-2A>G http://identifiers.org/clinvar/193662 ^@ NM_003742.2(ABCB11):c.957A>G (p.Gly319=) http://identifiers.org/clinvar/193663 ^@ NM_004006.2(DMD):c.1093C>T (p.Gln365Ter) http://identifiers.org/clinvar/193664 ^@ NM_004006.2(DMD):c.1070delC (p.Ser357Leufs) http://identifiers.org/clinvar/193665 ^@ NM_004183.3(BEST1):c.1204C>T (p.His402Tyr) http://identifiers.org/clinvar/193666 ^@ NM_004183.3(BEST1):c.1410G>A (p.Thr470=) http://identifiers.org/clinvar/193667 ^@ NM_004183.3(BEST1):c.1474G>A (p.Val492Ile) http://identifiers.org/clinvar/193668 ^@ NM_004260.3(RECQL4):c.1685G>A (p.Arg562Gln) http://identifiers.org/clinvar/193669 ^@ NM_004260.3(RECQL4):c.1704+9C>T http://identifiers.org/clinvar/193670 ^@ NM_004333.4(BRAF):c.1305G>A (p.Arg435=) http://identifiers.org/clinvar/193671 ^@ NM_004369.3(COL6A3):c.4413T>C (p.Ser1471=) http://identifiers.org/clinvar/193672 ^@ NM_004369.3(COL6A3):c.4436A>T (p.Gln1479Leu) http://identifiers.org/clinvar/193673 ^@ NM_004452.3(ESRRB):c.1496G>A (p.Gly499Asp) http://identifiers.org/clinvar/193674 ^@ NM_004595.4(SMS):c.978G>A (p.Ser326=) http://identifiers.org/clinvar/193675 ^@ NM_004595.4(SMS):c.1026A>C (p.Ser342=) http://identifiers.org/clinvar/193676 ^@ NM_004737.5(LARGE1):c.1071T>C (p.Asn357=) http://identifiers.org/clinvar/193677 ^@ NM_005045.3(RELN):c.906C>T (p.Ala302=) http://identifiers.org/clinvar/193678 ^@ NM_005045.3(RELN):c.1035A>G (p.Leu345=) http://identifiers.org/clinvar/193679 ^@ NM_005359.5(SMAD4):c.1216G>A (p.Ala406Thr) http://identifiers.org/clinvar/193680 ^@ NM_005529.6(HSPG2):c.1082C>A (p.Thr361Asn) http://identifiers.org/clinvar/193681 ^@ NM_005609.3(PYGM):c.1237A>T (p.Asn413Tyr) http://identifiers.org/clinvar/193682 ^@ NM_005609.3(PYGM):c.1184C>T (p.Thr395Met) http://identifiers.org/clinvar/193684 ^@ NM_005881.3(BCKDK):c.847G>A (p.Ala283Thr) http://identifiers.org/clinvar/193685 ^@ NM_005881.3(BCKDK):c.904A>G (p.Ile302Val) http://identifiers.org/clinvar/193686 ^@ NM_005957.4(MTHFR):c.1556G>T (p.Arg519Leu) http://identifiers.org/clinvar/193687 ^@ NM_001161529.1(CSF2RA):c.921C>T (p.Ser307=) http://identifiers.org/clinvar/193688 ^@ NM_006208.2(ENPP1):c.1056T>G (p.Ala352=) http://identifiers.org/clinvar/193689 ^@ NM_006516.2(SLC2A1):c.1296C>A (p.Tyr432Ter) http://identifiers.org/clinvar/193690 ^@ NM_006516.2(SLC2A1):c.1446G>C (p.Leu482=) http://identifiers.org/clinvar/193691 ^@ NM_006642.3(SDCCAG8):c.1094G>A (p.Arg365Lys) http://identifiers.org/clinvar/193692 ^@ NM_006949.3(STXBP2):c.795-4C>T http://identifiers.org/clinvar/193693 ^@ NM_007294.3(BRCA1):c.3747_3748insCAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC (p.Glu1250Glnfs) http://identifiers.org/clinvar/193694 ^@ NM_007294.3(BRCA1):c.2980T>C (p.Cys994Arg) http://identifiers.org/clinvar/193695 ^@ NM_007294.3(BRCA1):c.1467G>A (p.Glu489=) http://identifiers.org/clinvar/193696 ^@ NM_007294.3(BRCA1):c.3858T>C (p.Ser1286=) http://identifiers.org/clinvar/193697 ^@ NM_007294.3(BRCA1):c.1880T>G (p.Val627Gly) http://identifiers.org/clinvar/193698 ^@ NM_007317.2(KIF22):c.1506G>A (p.Glu502=) http://identifiers.org/clinvar/193699 ^@ NM_012301.3(MAGI2):c.1530C>T (p.Tyr510=) http://identifiers.org/clinvar/193700 ^@ NM_012301.3(MAGI2):c.2012T>C (p.Ile671Thr) http://identifiers.org/clinvar/193701 ^@ NM_014008.4(CCDC22):c.1163G>A (p.Arg388His) http://identifiers.org/clinvar/193702 ^@ NM_014014.4(SNRNP200):c.1159A>G (p.Met387Val) http://identifiers.org/clinvar/193703 ^@ NM_014141.5(CNTNAP2):c.1603G>A (p.Glu535Lys) http://identifiers.org/clinvar/193704 ^@ NM_014141.5(CNTNAP2):c.1526G>A (p.Ser509Asn) http://identifiers.org/clinvar/193705 ^@ NM_014191.3(SCN8A):c.1241A>T (p.Tyr414Phe) http://identifiers.org/clinvar/193706 ^@ NM_014363.5(SACS):c.4076T>C (p.Met1359Thr) http://identifiers.org/clinvar/193707 ^@ NM_014363.5(SACS):c.13717A>C (p.Asn4573His) http://identifiers.org/clinvar/193708 ^@ NM_014363.5(SACS):c.8133G>A (p.Ser2711=) http://identifiers.org/clinvar/193709 ^@ NM_014363.5(SACS):c.2643G>C (p.Glu881Asp) http://identifiers.org/clinvar/193710 ^@ NM_014363.5(SACS):c.8414C>T (p.Thr2805Ile) http://identifiers.org/clinvar/193711 ^@ NM_014363.5(SACS):c.8873A>G (p.Lys2958Arg) http://identifiers.org/clinvar/193712 ^@ NM_014363.5(SACS):c.3074A>T (p.Asn1025Ile) http://identifiers.org/clinvar/193713 ^@ NM_014780.4(CUL7):c.2318G>A (p.Arg773Gln) http://identifiers.org/clinvar/193714 ^@ NM_014795.3(ZEB2):c.3219C>T (p.His1073=) http://identifiers.org/clinvar/193715 ^@ NM_014874.3(MFN2):c.975C>T (p.Gly325=) http://identifiers.org/clinvar/193716 ^@ NM_015046.5(SETX):c.3147C>T (p.His1049=) http://identifiers.org/clinvar/193717 ^@ NM_015272.4(RPGRIP1L):c.1156A>G (p.Lys386Glu) http://identifiers.org/clinvar/193718 ^@ NM_015404.3(WHRN):c.2237-10C>G http://identifiers.org/clinvar/193719 ^@ NM_015488.4(PNKD):c.1010G>A (p.Arg337His) http://identifiers.org/clinvar/193720 ^@ NM_015629.3(PRPF31):c.1073+1G>A http://identifiers.org/clinvar/193721 ^@ NM_015629.3(PRPF31):c.1069C>T (p.Arg357Cys) http://identifiers.org/clinvar/193722 ^@ NM_015910.5(WDPCP):c.989C>T (p.Ser330Leu) http://identifiers.org/clinvar/193723 ^@ NM_015910.5(WDPCP):c.1333G>C (p.Ala445Pro) http://identifiers.org/clinvar/193724 ^@ NM_016952.4(CDON):c.1855G>C (p.Asp619His) http://identifiers.org/clinvar/193725 ^@ NM_017780.3(CHD7):c.2751G>A (p.Thr917=) http://identifiers.org/clinvar/193726 ^@ NM_018100.3(EFHC1):c.1675T>C (p.Leu559=) http://identifiers.org/clinvar/193727 ^@ NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu) http://identifiers.org/clinvar/193728 ^@ NM_018451.4(CENPJ):c.2992-6dupT http://identifiers.org/clinvar/193729 ^@ NM_020223.3(FAM20C):c.1681G>A (p.Val561Met) http://identifiers.org/clinvar/193730 ^@ NM_020223.3(FAM20C):c.1659G>T (p.Val553=) http://identifiers.org/clinvar/193731 ^@ NM_020223.3(FAM20C):c.1690A>G (p.Asn564Asp) http://identifiers.org/clinvar/193732 ^@ NM_020754.3(ARHGAP31):c.1430C>T (p.Pro477Leu) http://identifiers.org/clinvar/193733 ^@ NM_020800.2(IFT80):c.1076C>T (p.Ser359Phe) http://identifiers.org/clinvar/193734 ^@ NM_001040142.1(SCN2A):c.1178C>A (p.Thr393Lys) http://identifiers.org/clinvar/193735 ^@ NM_021939.3(FKBP10):c.1667G>A (p.Arg556His) http://identifiers.org/clinvar/193736 ^@ NM_022437.2(ABCG8):c.1486A>G (p.Lys496Glu) http://identifiers.org/clinvar/193737 ^@ NM_001037633.1(SIL1):c.1215G>T (p.Leu405=) http://identifiers.org/clinvar/193738 ^@ NM_023073.3(C5orf42):c.1371+5A>G http://identifiers.org/clinvar/193739 ^@ NM_024312.4(GNPTAB):c.1144A>C (p.Thr382Pro) http://identifiers.org/clinvar/193740 ^@ NM_024649.4(BBS1):c.887delT (p.Ile296Thrfs) http://identifiers.org/clinvar/193741 ^@ NM_001191061.1(SLC25A22):c.868T>C (p.Cys290Arg) http://identifiers.org/clinvar/193742 ^@ NM_001191061.1(SLC25A22):c.834C>T (p.His278=) http://identifiers.org/clinvar/193743 ^@ NM_024809.4(TCTN2):c.1100-10G>A http://identifiers.org/clinvar/193744 ^@ NM_025074.6(FRAS1):c.990A>G (p.Glu330=) http://identifiers.org/clinvar/193745 ^@ NM_025184.3(EFHC2):c.1519G>C (p.Glu507Gln) http://identifiers.org/clinvar/193746 ^@ NM_178443.2(FERMT3):c.1200G>A (p.Gln400=) http://identifiers.org/clinvar/193747 ^@ NM_031885.3(BBS2):c.1099dupC (p.Leu367Profs) http://identifiers.org/clinvar/193748 ^@ NM_031885.3(BBS2):c.1190C>G (p.Thr397Ser) http://identifiers.org/clinvar/193749 ^@ NM_032119.3(ADGRV1):c.1854G>A (p.Glu618=) http://identifiers.org/clinvar/193750 ^@ NM_033071.3(SYNE1):c.883G>A (p.Ala295Thr) http://identifiers.org/clinvar/193751 ^@ NM_053025.3(MYLK):c.984G>A (p.Ser328=) http://identifiers.org/clinvar/193752 ^@ NM_053025.3(MYLK):c.1007C>T (p.Pro336Leu) http://identifiers.org/clinvar/193753 ^@ NM_058246.3(DNAJB6):c.947C>T (p.Ser316Leu) http://identifiers.org/clinvar/193754 ^@ NM_001177317.1(SLC34A3):c.1009G>A (p.Gly337Ser) http://identifiers.org/clinvar/193755 ^@ NM_001177317.1(SLC34A3):c.929G>A (p.Arg310His) http://identifiers.org/clinvar/193758 ^@ NM_015384.4(NIPBL):c.1582A>T (p.Thr528Ser) http://identifiers.org/clinvar/193759 ^@ NM_133433.3(NIPBL):c.1833T>A (p.Ser611Arg) http://identifiers.org/clinvar/193760 ^@ NM_015384.4(NIPBL):c.2743A>G (p.Ser915Gly) http://identifiers.org/clinvar/193762 ^@ NM_147127.4(EVC2):c.1364C>G (p.Thr455Arg) http://identifiers.org/clinvar/193763 ^@ NM_147127.4(EVC2):c.1437A>G (p.Glu479=) http://identifiers.org/clinvar/193764 ^@ NM_152778.2(MFSD8):c.886G>A (p.Asp296Asn) http://identifiers.org/clinvar/193765 ^@ NM_176824.2(BBS7):c.1037G>A (p.Arg346Gln) http://identifiers.org/clinvar/193766 ^@ NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) http://identifiers.org/clinvar/193767 ^@ NM_207346.2(TSEN54):c.1368C>T (p.Asp456=) http://identifiers.org/clinvar/193769 ^@ NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly) http://identifiers.org/clinvar/193770 ^@ NM_182914.2(SYNE2):c.18163G>A (p.Asp6055Asn) http://identifiers.org/clinvar/193771 ^@ NM_182914.2(SYNE2):c.18039-5T>A http://identifiers.org/clinvar/193772 ^@ NM_000540.2(RYR1):c.14717C>G (p.Ala4906Gly) http://identifiers.org/clinvar/193773 ^@ NM_033071.3(SYNE1):c.19211G>A (p.Arg6404Gln) http://identifiers.org/clinvar/193774 ^@ NM_182914.2(SYNE2):c.18641G>A (p.Arg6214Lys) http://identifiers.org/clinvar/193775 ^@ NM_033071.3(SYNE1):c.19295A>G (p.Asn6432Ser) http://identifiers.org/clinvar/193776 ^@ NM_001035.2(RYR2):c.*8C>T http://identifiers.org/clinvar/193777 ^@ NM_182961.3(SYNE1):c.19635G>T (p.Arg6545Ser) http://identifiers.org/clinvar/193778 ^@ NM_001256850.1(TTN):c.29562A>T (p.Glu9854Asp) http://identifiers.org/clinvar/193779 ^@ NM_182914.2(SYNE2):c.19135C>T (p.Arg6379Cys) http://identifiers.org/clinvar/193780 ^@ NM_182914.2(SYNE2):c.19402+8C>T http://identifiers.org/clinvar/193781 ^@ NM_004543.4(NEB):c.15474+6G>A http://identifiers.org/clinvar/193782 ^@ NM_001271208.1(NEB):c.20467-4delT http://identifiers.org/clinvar/193783 ^@ NM_001271208.1(NEB):c.20671C>T (p.Leu6891Phe) http://identifiers.org/clinvar/193784 ^@ NM_033071.3(SYNE1):c.20109G>A (p.Glu6703=) http://identifiers.org/clinvar/193785 ^@ NM_000016.5(ACADM):c.1007G>A (p.Ser336Asn) http://identifiers.org/clinvar/193786 ^@ NM_000018.3(ACADVL):c.1153C>T (p.Arg385Trp) http://identifiers.org/clinvar/193787 ^@ NM_000019.3(ACAT1):c.1006-4_1006-1delinsAAA http://identifiers.org/clinvar/193788 ^@ NM_000036.2(AMPD1):c.1531A>G (p.Met511Val) http://identifiers.org/clinvar/193789 ^@ NM_000059.3(BRCA2):c.5723_5727delTAGAT (p.Leu1908Glnfs) http://identifiers.org/clinvar/193790 ^@ NM_000059.3(BRCA2):c.5632_5634delAAC (p.Asn1878del) http://identifiers.org/clinvar/193791 ^@ NM_000059.3(BRCA2):c.3451A>C (p.Ile1151Leu) http://identifiers.org/clinvar/193792 ^@ NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp) http://identifiers.org/clinvar/193793 ^@ NM_000071.2(CBS):c.992C>T (p.Ala331Val) http://identifiers.org/clinvar/193794 ^@ NM_000071.2(CBS):c.1005C>T (p.Ala335=) http://identifiers.org/clinvar/193795 ^@ NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) http://identifiers.org/clinvar/193796 ^@ NM_000152.4(GAA):c.1583G>C (p.Gly528Ala) http://identifiers.org/clinvar/193797 ^@ NM_000155.3(GALT):c.1139G>C (p.Ter380Ser) http://identifiers.org/clinvar/193798 ^@ NM_000159.3(GCDH):c.1213A>G (p.Met405Val) http://identifiers.org/clinvar/193799 ^@ NM_000159.3(GCDH):c.1168G>C (p.Gly390Arg) http://identifiers.org/clinvar/193800 ^@ NM_000203.4(IDUA):c.1529C>G (p.Pro510Arg) http://identifiers.org/clinvar/193801 ^@ NM_000218.2(KCNQ1):c.1394-6C>T http://identifiers.org/clinvar/193802 ^@ NM_000238.3(KCNH2):c.2659C>T (p.Arg887Cys) http://identifiers.org/clinvar/193804 ^@ NM_000272.3(NPHP1):c.1154T>C (p.Ile385Thr) http://identifiers.org/clinvar/193805 ^@ NM_000277.1(PAH):c.1156T>C (p.Tyr386His) http://identifiers.org/clinvar/193806 ^@ NM_000287.3(PEX6):c.2183C>T (p.Pro728Leu) http://identifiers.org/clinvar/193807 ^@ NM_000328.2(RPGR):c.1257A>C (p.Pro419=) http://identifiers.org/clinvar/193808 ^@ NM_000328.2(RPGR):c.1348T>C (p.Cys450Arg) http://identifiers.org/clinvar/193809 ^@ NM_000334.4(SCN4A):c.1845+7A>G http://identifiers.org/clinvar/193810 ^@ NM_000350.2(ABCA4):c.1492G>A (p.Asp498Asn) http://identifiers.org/clinvar/193811 ^@ NM_000392.4(ABCC2):c.1483A>G (p.Lys495Glu) http://identifiers.org/clinvar/193812 ^@ NM_000425.4(L1CAM):c.1379+3G>A http://identifiers.org/clinvar/193813 ^@ NM_000425.4(L1CAM):c.1316T>C (p.Val439Ala) http://identifiers.org/clinvar/193815 ^@ NM_000541.4(SAG):c.875G>A (p.Arg292Gln) http://identifiers.org/clinvar/193816 ^@ NM_000666.2(ACY1):c.811G>A (p.Ala271Thr) http://identifiers.org/clinvar/193817 ^@ NM_000823.3(GHRHR):c.1049A>G (p.Asp350Gly) http://identifiers.org/clinvar/193818 ^@ NM_000875.4(IGF1R):c.2298C>T (p.Thr766=) http://identifiers.org/clinvar/193819 ^@ NM_000883.3(IMPDH1):c.1108G>A (p.Ala370Thr) http://identifiers.org/clinvar/193820 ^@ NM_001003722.1(GLE1):c.1641T>C (p.Tyr547=) http://identifiers.org/clinvar/193821 ^@ NM_001004334.3(GPR179):c.5563C>G (p.Leu1855Val) http://identifiers.org/clinvar/193822 ^@ NM_001004334.3(GPR179):c.3401G>A (p.Arg1134Gln) http://identifiers.org/clinvar/193823 ^@ NM_001004334.3(GPR179):c.5605C>G (p.Gln1869Glu) http://identifiers.org/clinvar/193824 ^@ NM_001004334.3(GPR179):c.3847C>T (p.Pro1283Ser) http://identifiers.org/clinvar/193825 ^@ NM_001004334.3(GPR179):c.2410C>T (p.Arg804Trp) http://identifiers.org/clinvar/193826 ^@ NM_001004334.3(GPR179):c.2392G>A (p.Ala798Thr) http://identifiers.org/clinvar/193827 ^@ NM_001005741.2(GBA):c.1431C>G (p.Ala477=) http://identifiers.org/clinvar/193828 ^@ NM_001005741.2(GBA):c.1505+10A>T http://identifiers.org/clinvar/193829 ^@ NM_001042351.2(G6PD):c.1288-10_1288-9delTC http://identifiers.org/clinvar/193830 ^@ NM_001079802.1(FKTN):c.*4375_*4376ins3062 http://identifiers.org/clinvar/193831 ^@ NM_001080522.2(CC2D2A):c.1017dupC (p.Glu340Argfs) http://identifiers.org/clinvar/193832 ^@ NM_001277313.1(FMN1):c.3708T>C (p.Tyr1236=) http://identifiers.org/clinvar/193833 ^@ NM_001127221.1(CACNA1A):c.1558+10A>C http://identifiers.org/clinvar/193834 ^@ NM_001130438.2(SPTAN1):c.1337C>T (p.Ser446Phe) http://identifiers.org/clinvar/193835 ^@ NM_001130823.2(DNMT1):c.891+8C>T http://identifiers.org/clinvar/193836 ^@ NM_001134363.2(RBM20):c.3047G>C (p.Gly1016Ala) http://identifiers.org/clinvar/193837 ^@ NM_001135659.2(NRXN1):c.2128C>G (p.Pro710Ala) http://identifiers.org/clinvar/193838 ^@ NM_001135659.2(NRXN1):c.1963C>T (p.Leu655=) http://identifiers.org/clinvar/193839 ^@ NM_001165963.1(SCN1A):c.1889G>A (p.Arg630Gln) http://identifiers.org/clinvar/193840 ^@ NM_006920.4(SCN1A):c.2010+39_2010+42delGAAG http://identifiers.org/clinvar/193841 ^@ NM_006920.4(SCN1A):c.1703G>A (p.Arg568Gln) http://identifiers.org/clinvar/193842 ^@ NM_001195263.1(PDZD7):c.1638T>C (p.Asn546=) http://identifiers.org/clinvar/193844 ^@ NM_001429.3(EP300):c.2064A>G (p.Leu688=) http://identifiers.org/clinvar/193845 ^@ NM_001456.3(FLNA):c.1582G>A (p.Val528Met) http://identifiers.org/clinvar/193846 ^@ NM_001458.4(FLNC):c.1698C>T (p.Ser566=) http://identifiers.org/clinvar/193847 ^@ NM_001793.5(CDH3):c.1436T>C (p.Leu479Pro) http://identifiers.org/clinvar/193848 ^@ NM_001793.5(CDH3):c.1443C>T (p.Asp481=) http://identifiers.org/clinvar/193849 ^@ NM_001844.4(COL2A1):c.762+1G>A http://identifiers.org/clinvar/193850 ^@ NM_001848.2(COL6A1):c.904-10G>A http://identifiers.org/clinvar/193851 ^@ NM_001848.2(COL6A1):c.904G>C (p.Gly302Arg) http://identifiers.org/clinvar/193852 ^@ NM_002025.3(AFF2):c.2302_2304delAAC (p.Asn768del) http://identifiers.org/clinvar/193853 ^@ NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/193854 ^@ NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys) http://identifiers.org/clinvar/193855 ^@ NM_002335.3(LRP5):c.2324T>C (p.Ile775Thr) http://identifiers.org/clinvar/193856 ^@ NM_002420.5(TRPM1):c.1239G>A (p.Thr413=) http://identifiers.org/clinvar/193857 ^@ NM_002693.2(POLG):c.1956C>T (p.Ile652=) http://identifiers.org/clinvar/193858 ^@ NM_002743.3(PRKCSH):c.999_1001dupGGA (p.Glu333_Asp334insGlu) http://identifiers.org/clinvar/193859 ^@ NM_002977.3(SCN9A):c.1555G>A (p.Glu519Lys) http://identifiers.org/clinvar/193860 ^@ NM_002977.3(SCN9A):c.1326G>A (p.Ala442=) http://identifiers.org/clinvar/193861 ^@ NM_001048166.1(STIL):c.1227T>C (p.Ser409=) http://identifiers.org/clinvar/193862 ^@ NM_003283.5(TNNT1):c.580G>A (p.Asp194Asn) http://identifiers.org/clinvar/193863 ^@ NM_003384.2(VRK1):c.1058_1060delCAA (p.Thr353del) http://identifiers.org/clinvar/193864 ^@ NM_003482.3(KMT2D):c.3582dupC (p.Thr1195Hisfs) http://identifiers.org/clinvar/193865 ^@ NM_003482.3(KMT2D):c.2798-7delC http://identifiers.org/clinvar/193866 ^@ NM_003482.3(KMT2D):c.3889C>T (p.Arg1297Cys) http://identifiers.org/clinvar/193867 ^@ NM_003588.3(CUL4B):c.1311-9dupT http://identifiers.org/clinvar/193868 ^@ NM_003816.2(ADAM9):c.1074T>C (p.Asp358=) http://identifiers.org/clinvar/193869 ^@ NM_004006.2(DMD):c.1286C>G (p.Ser429Ter) http://identifiers.org/clinvar/193870 ^@ NM_004006.2(DMD):c.1150-2A>G http://identifiers.org/clinvar/193871 ^@ NM_004006.2(DMD):c.1150-4T>A http://identifiers.org/clinvar/193873 ^@ NM_004183.3(BEST1):c.1752T>A (p.His584Gln) http://identifiers.org/clinvar/193874 ^@ NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) http://identifiers.org/clinvar/193875 ^@ NM_004260.3(RECQL4):c.1872C>T (p.Val624=) http://identifiers.org/clinvar/193876 ^@ NM_139343.2(BIN1):c.942C>T (p.His314=) http://identifiers.org/clinvar/193877 ^@ NM_004369.3(COL6A3):c.5341A>G (p.Ile1781Val) http://identifiers.org/clinvar/193878 ^@ NM_004519.3(KCNQ3):c.1564G>A (p.Val522Ile) http://identifiers.org/clinvar/193879 ^@ NM_004543.4(NEB):c.863A>G (p.Lys288Arg) http://identifiers.org/clinvar/193880 ^@ NM_004543.4(NEB):c.914A>G (p.Asp305Gly) http://identifiers.org/clinvar/193881 ^@ NM_004737.5(LARGE1):c.1132-8C>T http://identifiers.org/clinvar/193882 ^@ NM_004737.5(LARGE1):c.1154A>G (p.Lys385Arg) http://identifiers.org/clinvar/193883 ^@ NM_004737.5(LARGE1):c.1234C>T (p.Leu412=) http://identifiers.org/clinvar/193884 ^@ NM_005591.3(MRE11):c.1225+19T>C http://identifiers.org/clinvar/193885 ^@ NM_005609.3(PYGM):c.1343C>T (p.Ala448Val) http://identifiers.org/clinvar/193886 ^@ NM_005677.3(COLQ):c.674G>C (p.Gly225Ala) http://identifiers.org/clinvar/193887 ^@ NM_005682.6(ADGRG1):c.1193T>C (p.Val398Ala) http://identifiers.org/clinvar/193888 ^@ NM_174963.3(ST3GAL3):c.1099-10C>T http://identifiers.org/clinvar/193889 ^@ NM_006348.3(COG5):c.1189A>G (p.Met397Val) http://identifiers.org/clinvar/193890 ^@ NM_006899.4(IDH3B):c.1011-9T>C http://identifiers.org/clinvar/193891 ^@ NM_006946.2(SPTBN2):c.1266G>C (p.Lys422Asn) http://identifiers.org/clinvar/193892 ^@ NM_001199397.1(NEK1):c.869-1G>T http://identifiers.org/clinvar/193893 ^@ NM_012469.3(PRPF6):c.1368G>A (p.Ala456=) http://identifiers.org/clinvar/193894 ^@ NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr) http://identifiers.org/clinvar/193895 ^@ NM_014141.5(CNTNAP2):c.1723A>T (p.Ser575Cys) http://identifiers.org/clinvar/193896 ^@ NM_014467.2(SRPX2):c.1248C>T (p.Phe416=) http://identifiers.org/clinvar/193897 ^@ NM_014714.3(IFT140):c.1336A>G (p.Ile446Val) http://identifiers.org/clinvar/193898 ^@ NM_014874.3(MFN2):c.1148C>T (p.Ala383Val) http://identifiers.org/clinvar/193899 ^@ NM_015102.4(NPHP4):c.1319C>T (p.Ser440Leu) http://identifiers.org/clinvar/193900 ^@ NM_015272.4(RPGRIP1L):c.1340T>C (p.Leu447Ser) http://identifiers.org/clinvar/193901 ^@ NM_015311.2(OBSL1):c.3649G>A (p.Glu1217Lys) http://identifiers.org/clinvar/193902 ^@ NM_015311.2(OBSL1):c.3646G>A (p.Gly1216Ser) http://identifiers.org/clinvar/193903 ^@ NM_015346.3(ZFYVE26):c.2067C>T (p.Leu689=) http://identifiers.org/clinvar/193904 ^@ NM_015910.5(WDPCP):c.1594_1596delCTT (p.Leu532del) http://identifiers.org/clinvar/193905 ^@ NM_001165927.1(MKS1):c.964G>A (p.Val322Ile) http://identifiers.org/clinvar/193906 ^@ NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) http://identifiers.org/clinvar/193907 ^@ NM_015243.2(VPS13B):c.1440C>T (p.Phe480=) http://identifiers.org/clinvar/193908 ^@ NM_015243.2(VPS13B):c.1528C>T (p.Arg510Cys) http://identifiers.org/clinvar/193909 ^@ NM_017950.3(CCDC40):c.1590C>T (p.Thr530=) http://identifiers.org/clinvar/193910 ^@ NM_018006.4(TRMU):c.1135G>T (p.Gly379Cys) http://identifiers.org/clinvar/193911 ^@ NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) http://identifiers.org/clinvar/193912 ^@ NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu) http://identifiers.org/clinvar/193913 ^@ NM_020166.4(MCCC1):c.1114C>T (p.Gln372Ter) http://identifiers.org/clinvar/193914 ^@ NM_020166.4(MCCC1):c.1139A>C (p.His380Pro) http://identifiers.org/clinvar/193915 ^@ NM_020361.4(CPA6):c.1237C>T (p.Leu413Phe) http://identifiers.org/clinvar/193916 ^@ NM_020451.2(SELENON):c.1428G>A (p.Ser476=) http://identifiers.org/clinvar/193917 ^@ NM_020686.5(ABAT):c.684G>A (p.Thr228=) http://identifiers.org/clinvar/193918 ^@ NM_020686.5(ABAT):c.678G>A (p.Ala226=) http://identifiers.org/clinvar/193919 ^@ NM_020686.5(ABAT):c.816+7C>A http://identifiers.org/clinvar/193920 ^@ NM_020754.3(ARHGAP31):c.1824G>A (p.Pro608=) http://identifiers.org/clinvar/193921 ^@ NM_020822.2(KCNT1):c.942C>T (p.Thr314=) http://identifiers.org/clinvar/193922 ^@ NM_020822.2(KCNT1):c.889G>A (p.Glu297Lys) http://identifiers.org/clinvar/193923 ^@ NM_020822.2(KCNT1):c.885G>A (p.Ala295=) http://identifiers.org/clinvar/193924 ^@ NM_021150.3(GRIP1):c.1199-10_1199-8delGTT http://identifiers.org/clinvar/193925 ^@ NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) http://identifiers.org/clinvar/193926 ^@ NM_022089.3(ATP13A2):c.993C>T (p.Ala331=) http://identifiers.org/clinvar/193927 ^@ NM_023036.4(DNAI2):c.1408G>A (p.Gly470Ser) http://identifiers.org/clinvar/193928 ^@ NM_023073.3(C5orf42):c.1456G>A (p.Asp486Asn) http://identifiers.org/clinvar/193929 ^@ NM_023073.3(C5orf42):c.1411C>G (p.Leu471Val) http://identifiers.org/clinvar/193930 ^@ NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) http://identifiers.org/clinvar/193931 ^@ NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) http://identifiers.org/clinvar/193932 ^@ NM_024596.4(MCPH1):c.2077C>T (p.Arg693Cys) http://identifiers.org/clinvar/193933 ^@ NM_024753.4(TTC21B):c.1358T>A (p.Met453Lys) http://identifiers.org/clinvar/193934 ^@ NM_025265.3(TSEN2):c.1249-3T>C http://identifiers.org/clinvar/193935 ^@ NM_031433.3(MFRP):c.1256-4G>A http://identifiers.org/clinvar/193936 ^@ NM_032119.3(ADGRV1):c.2106G>A (p.Val702=) http://identifiers.org/clinvar/193937 ^@ NM_032119.3(ADGRV1):c.2233C>G (p.Leu745Val) http://identifiers.org/clinvar/193938 ^@ NM_032667.6(BSCL2):c.1175G>A (p.Arg392His) http://identifiers.org/clinvar/193939 ^@ NM_001177317.1(SLC34A3):c.1149C>T (p.Ala383=) http://identifiers.org/clinvar/193940 ^@ NM_133499.2(SYN1):c.1325T>C (p.Leu442Pro) http://identifiers.org/clinvar/193941 ^@ NM_138694.3(PKHD1):c.765C>G (p.Tyr255Ter) http://identifiers.org/clinvar/193942 ^@ NM_144573.3(NEXN):c.1252-5delT http://identifiers.org/clinvar/193945 ^@ NM_001142301.1(TMEM67):c.835A>G (p.Thr279Ala) http://identifiers.org/clinvar/193946 ^@ NM_173630.3(RTTN):c.1351T>C (p.Cys451Arg) http://identifiers.org/clinvar/193947 ^@ NM_194318.3(B3GLCT):c.932C>T (p.Thr311Ile) http://identifiers.org/clinvar/193948 ^@ NM_198525.2(KIF7):c.2335G>C (p.Glu779Gln) http://identifiers.org/clinvar/193949 ^@ NM_198525.2(KIF7):c.2236C>T (p.Arg746Trp) http://identifiers.org/clinvar/193950 ^@ NM_201253.2(CRB1):c.3893T>C (p.Ile1298Thr) http://identifiers.org/clinvar/193951 ^@ NM_207352.3(CYP4V2):c.1446G>A (p.Ser482=) http://identifiers.org/clinvar/193952 ^@ NM_001267550.2(TTN):c.31164C>T (p.Tyr10388=) http://identifiers.org/clinvar/193953 ^@ NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) http://identifiers.org/clinvar/193954 ^@ NM_182914.2(SYNE2):c.20158C>T (p.Arg6720Trp) http://identifiers.org/clinvar/193955 ^@ NM_182914.2(SYNE2):c.20197G>A (p.Glu6733Lys) http://identifiers.org/clinvar/193956 ^@ NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) http://identifiers.org/clinvar/193957 ^@ NM_182914.2(SYNE2):c.20542C>T (p.Arg6848Cys) http://identifiers.org/clinvar/193958 ^@ NM_033071.3(SYNE1):c.21389G>C (p.Cys7130Ser) http://identifiers.org/clinvar/193959 ^@ NM_001271208.1(NEB):c.21671A>T (p.Tyr7224Phe) http://identifiers.org/clinvar/193960 ^@ NM_033071.3(SYNE1):c.21606C>T (p.Asp7202=) http://identifiers.org/clinvar/193961 ^@ NM_001271208.1(NEB):c.21790G>C (p.Asp7264His) http://identifiers.org/clinvar/193962 ^@ NM_001256850.1(TTN):c.30856G>A (p.Val10286Ile) http://identifiers.org/clinvar/193963 ^@ NM_001267550.2(TTN):c.31846+1G>A http://identifiers.org/clinvar/193964 ^@ NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) http://identifiers.org/clinvar/193965 ^@ NM_000026.3(ADSL):c.1368+3A>G http://identifiers.org/clinvar/193966 ^@ NM_000026.3(ADSL):c.1207A>C (p.Ile403Leu) http://identifiers.org/clinvar/193967 ^@ NM_000048.3(ASL):c.837G>C (p.Thr279=) http://identifiers.org/clinvar/193968 ^@ NM_000050.4(ASS1):c.805G>A (p.Val269Met) http://identifiers.org/clinvar/193969 ^@ NM_000053.3(ATP7B):c.2785A>G (p.Ile929Val) http://identifiers.org/clinvar/193971 ^@ NM_000071.2(CBS):c.1072G>A (p.Val358Met) http://identifiers.org/clinvar/193972 ^@ NM_000080.3(CHRNE):c.*6A>G http://identifiers.org/clinvar/193973 ^@ NM_000118.3(ENG):c.1572C>T (p.Pro524=) http://identifiers.org/clinvar/193974 ^@ NM_000142.4(FGFR3):c.1550A>G (p.Lys517Arg) http://identifiers.org/clinvar/193975 ^@ NM_000152.4(GAA):c.1722C>T (p.Leu574=) http://identifiers.org/clinvar/193976 ^@ NM_000159.3(GCDH):c.1244-2A>C http://identifiers.org/clinvar/193977 ^@ NM_000238.3(KCNH2):c.2711A>T (p.Glu904Val) http://identifiers.org/clinvar/193978 ^@ NM_000249.3(MLH1):c.1039-8delT http://identifiers.org/clinvar/193980 ^@ NM_000256.3(MYBPC3):c.1090G>C (p.Ala364Pro) http://identifiers.org/clinvar/193981 ^@ NM_000271.4(NPC1):c.1947+7dupC http://identifiers.org/clinvar/193982 ^@ NM_000271.4(NPC1):c.1947+16dupG http://identifiers.org/clinvar/193984 ^@ NM_000275.2(OCA2):c.1183A>C (p.Met395Leu) http://identifiers.org/clinvar/193985 ^@ NM_000275.2(OCA2):c.1239+5G>C http://identifiers.org/clinvar/193986 ^@ NM_000275.2(OCA2):c.1183-4A>G http://identifiers.org/clinvar/193987 ^@ NM_000275.2(OCA2):c.1226A>G (p.Tyr409Cys) http://identifiers.org/clinvar/193988 ^@ NM_000277.1(PAH):c.1286A>C (p.Gln429Pro) http://identifiers.org/clinvar/193990 ^@ NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) http://identifiers.org/clinvar/193991 ^@ NM_000426.3(LAMA2):c.1701C>T (p.Ile567=) http://identifiers.org/clinvar/193992 ^@ NM_000426.3(LAMA2):c.1782+10C>T http://identifiers.org/clinvar/193993 ^@ NM_000445.4(PLEC):c.1131G>A (p.Val377=) http://identifiers.org/clinvar/193994 ^@ NM_000445.4(PLEC):c.1239C>G (p.Ser413Arg) http://identifiers.org/clinvar/193996 ^@ NM_000478.5(ALPL):c.1565T>C (p.Val522Ala) http://identifiers.org/clinvar/193997 ^@ NM_000489.4(ATRX):c.4120+4A>C http://identifiers.org/clinvar/193998 ^@ NM_001077488.3(GNAS):c.1013C>A (p.Ala338Asp) http://identifiers.org/clinvar/193999 ^@ NM_000521.3(HEXB):c.1478T>G (p.Val493Gly) http://identifiers.org/clinvar/194001 ^@ NM_000535.6(PMS2):c.2127C>T (p.Phe709=) http://identifiers.org/clinvar/194002 ^@ NM_000540.2(RYR1):c.1172G>A (p.Arg391His) http://identifiers.org/clinvar/194003 ^@ NM_000552.4(VWF):c.1329C>T (p.Ser443=) http://identifiers.org/clinvar/194004 ^@ NM_000553.4(WRN):c.1530_1532delAGA (p.Glu510del) http://identifiers.org/clinvar/194005 ^@ NM_000642.2(AGL):c.1485delT (p.Tyr495Terfs) http://identifiers.org/clinvar/194006 ^@ NM_000751.2(CHRND):c.1400G>A (p.Arg467His) http://identifiers.org/clinvar/194007 ^@ NM_000883.3(IMPDH1):c.1173A>G (p.Thr391=) http://identifiers.org/clinvar/194008 ^@ NM_000927.4(ABCB1):c.1199G>A (p.Ser400Asn) http://identifiers.org/clinvar/194009 ^@ NM_001015880.1(PAPSS2):c.1607A>G (p.His536Arg) http://identifiers.org/clinvar/194010 ^@ NM_001017995.2(SH3PXD2B):c.1063-9_1063-8delTCinsCT http://identifiers.org/clinvar/194011 ^@ NM_001017995.2(SH3PXD2B):c.1063-8C>T http://identifiers.org/clinvar/194012 ^@ NM_001017995.2(SH3PXD2B):c.1063-9T>C http://identifiers.org/clinvar/194013 ^@ NM_000480.2(AMPD3):c.1851C>T (p.His617=) http://identifiers.org/clinvar/194014 ^@ NM_001039348.2(EFEMP1):c.1413C>T (p.Ser471=) http://identifiers.org/clinvar/194015 ^@ NM_001039348.2(EFEMP1):c.1351C>T (p.Leu451Phe) http://identifiers.org/clinvar/194016 ^@ NM_015600.4(ABHD12):c.1113G>A (p.Arg371=) http://identifiers.org/clinvar/194017 ^@ NM_001130966.2(TBXAS1):c.1423delG (p.Ala475Profs) http://identifiers.org/clinvar/194018 ^@ NM_001080522.2(CC2D2A):c.1116C>A (p.Ser372Arg) http://identifiers.org/clinvar/194019 ^@ NM_001082538.2(TCTN1):c.1471A>T (p.Ile491Phe) http://identifiers.org/clinvar/194020 ^@ NM_001082538.2(TCTN1):c.1410C>T (p.Tyr470=) http://identifiers.org/clinvar/194021 ^@ NM_001082538.2(TCTN1):c.1379G>C (p.Ser460Thr) http://identifiers.org/clinvar/194022 ^@ NM_001083961.1(WDR62):c.1641G>T (p.Thr547=) http://identifiers.org/clinvar/194023 ^@ NM_001127221.1(CACNA1A):c.1671+9T>C http://identifiers.org/clinvar/194024 ^@ NM_001127500.2(MET):c.2638-7delC http://identifiers.org/clinvar/194025 ^@ NM_001128227.2(GNE):c.2179G>T (p.Val727Leu) http://identifiers.org/clinvar/194026 ^@ NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) http://identifiers.org/clinvar/194027 ^@ NM_001134363.2(RBM20):c.3331G>T (p.Val1111Leu) http://identifiers.org/clinvar/194028 ^@ NM_001135659.2(NRXN1):c.2452C>A (p.Leu818Met) http://identifiers.org/clinvar/194029 ^@ NM_001142800.1(EYS):c.1800G>T (p.Leu600Phe) http://identifiers.org/clinvar/194030 ^@ NM_001142800.1(EYS):c.1799T>G (p.Leu600Trp) http://identifiers.org/clinvar/194031 ^@ NM_001142800.1(EYS):c.1985G>T (p.Arg662Met) http://identifiers.org/clinvar/194032 ^@ NM_001165963.1(SCN1A):c.2044-5dupT http://identifiers.org/clinvar/194033 ^@ NM_001182.4(ALDH7A1):c.1093+1G>A http://identifiers.org/clinvar/194034 ^@ NM_001195263.1(PDZD7):c.1752T>C (p.Tyr584=) http://identifiers.org/clinvar/194035 ^@ NM_001369.2(DNAH5):c.1585C>T (p.Arg529Trp) http://identifiers.org/clinvar/194036 ^@ NM_001429.3(EP300):c.2240C>T (p.Pro747Leu) http://identifiers.org/clinvar/194037 ^@ NM_001456.3(FLNA):c.1812C>T (p.Asp604=) http://identifiers.org/clinvar/194038 ^@ NM_001458.4(FLNC):c.1902G>A (p.Glu634=) http://identifiers.org/clinvar/194039 ^@ NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg) http://identifiers.org/clinvar/194040 ^@ NM_001848.2(COL6A1):c.957+2T>C http://identifiers.org/clinvar/194041 ^@ NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) http://identifiers.org/clinvar/194042 ^@ NM_001849.3(COL6A2):c.1063G>T (p.Gly355Cys) http://identifiers.org/clinvar/194043 ^@ NM_080629.2(COL11A1):c.1450-9T>A http://identifiers.org/clinvar/194044 ^@ NM_002206.2(ITGA7):c.1722C>A (p.Ala574=) http://identifiers.org/clinvar/194045 ^@ NM_002206.2(ITGA7):c.1568-9A>G http://identifiers.org/clinvar/194046 ^@ NM_002206.2(ITGA7):c.1606C>T (p.Leu536Phe) http://identifiers.org/clinvar/194047 ^@ NM_002335.3(LRP5):c.2529C>T (p.Asp843=) http://identifiers.org/clinvar/194048 ^@ NM_003159.2(CDKL5):c.1891_1916del26 (p.Ile631Glnfs) http://identifiers.org/clinvar/194049 ^@ NM_003159.2(CDKL5):c.1152C>G (p.Tyr384Ter) http://identifiers.org/clinvar/194050 ^@ NM_003680.3(YARS):c.1464C>T (p.Phe488=) http://identifiers.org/clinvar/194051 ^@ NM_003688.3(CASK):c.1077G>A (p.Ala359=) http://identifiers.org/clinvar/194053 ^@ NM_004006.2(DMD):c.1463G>T (p.Arg488Leu) http://identifiers.org/clinvar/194054 ^@ NM_004369.3(COL6A3):c.5501-4C>G http://identifiers.org/clinvar/194055 ^@ NM_004369.3(COL6A3):c.5712C>T (p.Asp1904=) http://identifiers.org/clinvar/194056 ^@ NM_004369.3(COL6A3):c.5684C>T (p.Ser1895Leu) http://identifiers.org/clinvar/194057 ^@ NM_004453.3(ETFDH):c.1531G>A (p.Asp511Asn) http://identifiers.org/clinvar/194058 ^@ NM_022977.2(ACSL4):c.1448A>G (p.Tyr483Cys) http://identifiers.org/clinvar/194059 ^@ NM_004530.5(MMP2):c.1858G>A (p.Val620Ile) http://identifiers.org/clinvar/194060 ^@ NM_004737.5(LARGE1):c.1349G>A (p.Arg450His) http://identifiers.org/clinvar/194061 ^@ NM_004984.2(KIF5A):c.1293+9G>A http://identifiers.org/clinvar/194062 ^@ NM_005045.3(RELN):c.1386C>T (p.Cys462=) http://identifiers.org/clinvar/194064 ^@ NM_005199.4(CHRNG):c.1422C>T (p.Arg474=) http://identifiers.org/clinvar/194065 ^@ NM_005270.4(GLI2):c.1986G>A (p.Ser662=) http://identifiers.org/clinvar/194066 ^@ NM_005334.2(HCFC1):c.2109G>A (p.Thr703=) http://identifiers.org/clinvar/194067 ^@ NM_005881.3(BCKDK):c.1218G>A (p.Arg406=) http://identifiers.org/clinvar/194068 ^@ NM_005881.3(BCKDK):c.1104C>T (p.Phe368=) http://identifiers.org/clinvar/194069 ^@ NM_005881.3(BCKDK):c.*9C>T http://identifiers.org/clinvar/194070 ^@ NM_005957.4(MTHFR):c.*7G>A http://identifiers.org/clinvar/194071 ^@ NM_005957.4(MTHFR):c.1781G>A (p.Arg594Gln) http://identifiers.org/clinvar/194072 ^@ NM_006017.2(PROM1):c.1345G>A (p.Val449Met) http://identifiers.org/clinvar/194073 ^@ NM_006037.3(HDAC4):c.1419C>T (p.Asn473=) http://identifiers.org/clinvar/194074 ^@ NM_006059.3(LAMC3):c.2066C>T (p.Pro689Leu) http://identifiers.org/clinvar/194075 ^@ NM_006348.3(COG5):c.1340A>G (p.Tyr447Cys) http://identifiers.org/clinvar/194076 ^@ NM_006486.2(FBLN1):c.1441+9G>A http://identifiers.org/clinvar/194077 ^@ NM_006642.3(SDCCAG8):c.1380G>C (p.Gln460His) http://identifiers.org/clinvar/194078 ^@ NM_006657.2(FTCD):c.1366dupG (p.Glu456Glyfs) http://identifiers.org/clinvar/194079 ^@ NM_006899.4(IDH3B):c.1072-4G>A http://identifiers.org/clinvar/194080 ^@ NM_006922.3(SCN3A):c.1619C>T (p.Ser540Phe) http://identifiers.org/clinvar/194081 ^@ NM_007294.3(BRCA1):c.4251G>A (p.Val1417=) http://identifiers.org/clinvar/194082 ^@ NM_007317.2(KIF22):c.1751T>A (p.Leu584Gln) http://identifiers.org/clinvar/194083 ^@ NM_012144.3(DNAI1):c.1063+19C>T http://identifiers.org/clinvar/194084 ^@ NM_012301.3(MAGI2):c.2142G>A (p.Pro714=) http://identifiers.org/clinvar/194085 ^@ NM_012463.3(ATP6V0A2):c.1430A>T (p.Asn477Ile) http://identifiers.org/clinvar/194086 ^@ NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) http://identifiers.org/clinvar/194087 ^@ NM_014191.3(SCN8A):c.1677C>T (p.His559=) http://identifiers.org/clinvar/194088 ^@ NM_014191.3(SCN8A):c.1819G>A (p.Ala607Thr) http://identifiers.org/clinvar/194089 ^@ NM_148898.3(FOXP2):c.1560T>C (p.Tyr520=) http://identifiers.org/clinvar/194090 ^@ NM_014780.4(CUL7):c.2563A>G (p.Lys855Glu) http://identifiers.org/clinvar/194091 ^@ NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) http://identifiers.org/clinvar/194092 ^@ NM_001005207.3(TRIM37):c.950A>G (p.Asn317Ser) http://identifiers.org/clinvar/194093 ^@ NM_001005207.3(TRIM37):c.1015T>A (p.Ser339Thr) http://identifiers.org/clinvar/194094 ^@ NM_015404.3(WHRN):c.2644C>A (p.Arg882Ser) http://identifiers.org/clinvar/194095 ^@ NM_015560.2(OPA1):c.1212+5_1212+6delGTinsTC http://identifiers.org/clinvar/194096 ^@ NM_015560.2(OPA1):c.1199C>T (p.Pro400Leu) http://identifiers.org/clinvar/194097 ^@ NM_001127713.1(ATL1):c.1200G>A (p.Lys400=) http://identifiers.org/clinvar/194098 ^@ NM_016247.3(IMPG2):c.1243A>G (p.Asn415Asp) http://identifiers.org/clinvar/194099 ^@ NM_017617.4(NOTCH1):c.2005G>C (p.Gly669Arg) http://identifiers.org/clinvar/194100 ^@ NM_017653.3(DYM):c.1344A>G (p.Gln448=) http://identifiers.org/clinvar/194101 ^@ NM_001123383.1(BCOR):c.4622T>C (p.Met1541Thr) http://identifiers.org/clinvar/194102 ^@ NM_001165927.1(MKS1):c.995-2A>C http://identifiers.org/clinvar/194103 ^@ NM_018328.4(MBD5):c.3572A>G (p.His1191Arg) http://identifiers.org/clinvar/194104 ^@ NM_018328.4(MBD5):c.3605G>A (p.Ser1202Asn) http://identifiers.org/clinvar/194105 ^@ NM_018328.4(MBD5):c.3776T>G (p.Ile1259Ser) http://identifiers.org/clinvar/194106 ^@ NM_018418.4(SPATA7):c.1428G>A (p.Ser476=) http://identifiers.org/clinvar/194107 ^@ NM_019109.4(ALG1):c.1188-2A>G http://identifiers.org/clinvar/194108 ^@ NM_020549.4(CHAT):c.1771G>A (p.Val591Met) http://identifiers.org/clinvar/194109 ^@ NM_001145079.1(COG6):c.1075-1G>T http://identifiers.org/clinvar/194110 ^@ NM_020754.3(ARHGAP31):c.2412G>A (p.Pro804=) http://identifiers.org/clinvar/194111 ^@ NM_020754.3(ARHGAP31):c.3461C>T (p.Pro1154Leu) http://identifiers.org/clinvar/194112 ^@ NM_020822.2(KCNT1):c.1104G>A (p.Ala368=) http://identifiers.org/clinvar/194113 ^@ NM_022089.3(ATP13A2):c.1195+10G>A http://identifiers.org/clinvar/194114 ^@ NM_022132.4(MCCC2):c.1081C>T (p.Arg361Ter) http://identifiers.org/clinvar/194115 ^@ NM_022336.3(EDAR):c.1144G>A (p.Gly382Ser) http://identifiers.org/clinvar/194116 ^@ NM_022455.4(NSD1):c.4642-7T>C http://identifiers.org/clinvar/194117 ^@ NM_001077525.2(MTMR14):c.1067C>T (p.Thr356Met) http://identifiers.org/clinvar/194118 ^@ NM_023036.4(DNAI2):c.1615G>A (p.Val539Ile) http://identifiers.org/clinvar/194119 ^@ NM_023036.4(DNAI2):c.1619A>T (p.Asp540Val) http://identifiers.org/clinvar/194120 ^@ NM_023073.3(C5orf42):c.1819dupT (p.Tyr607Leufs) http://identifiers.org/clinvar/194121 ^@ NM_023110.2(FGFR1):c.1663+9C>T http://identifiers.org/clinvar/194122 ^@ NM_024596.4(MCPH1):c.2180C>T (p.Pro727Leu) http://identifiers.org/clinvar/194123 ^@ NM_031407.6(HUWE1):c.811A>G (p.Arg271Gly) http://identifiers.org/clinvar/194124 ^@ NM_031885.3(BBS2):c.1422G>A (p.Ser474=) http://identifiers.org/clinvar/194125 ^@ NM_033071.3(SYNE1):c.997T>C (p.Trp333Arg) http://identifiers.org/clinvar/194126 ^@ NM_052985.3(IFT122):c.1256G>A (p.Ser419Asn) http://identifiers.org/clinvar/194127 ^@ NM_015384.4(NIPBL):c.3481C>T (p.Pro1161Ser) http://identifiers.org/clinvar/194128 ^@ NM_006950.3(SYN1):c.1614A>G (p.Gly538=) http://identifiers.org/clinvar/194129 ^@ NM_133499.2(SYN1):c.1615G>A (p.Gly539Ser) http://identifiers.org/clinvar/194130 ^@ NM_144573.3(NEXN):c.1582_1584delGAA (p.Glu528del) http://identifiers.org/clinvar/194131 ^@ NM_144573.3(NEXN):c.1653A>G (p.Leu551=) http://identifiers.org/clinvar/194133 ^@ NM_147127.4(EVC2):c.1711-11_1711-10delTT http://identifiers.org/clinvar/194134 ^@ NM_152419.2(HGSNAT):c.1202G>C (p.Gly401Ala) http://identifiers.org/clinvar/194135 ^@ NM_172107.3(KCNQ2):c.1301+8G>T http://identifiers.org/clinvar/194136 ^@ NM_178335.2(CCDC50):c.1430-9C>G http://identifiers.org/clinvar/194137 ^@ NM_194318.3(B3GLCT):c.1046A>G (p.Asp349Gly) http://identifiers.org/clinvar/194138 ^@ NM_198428.2(BBS9):c.1280C>T (p.Ala427Val) http://identifiers.org/clinvar/194139 ^@ NM_198525.2(KIF7):c.2586C>T (p.Arg862=) http://identifiers.org/clinvar/194140 ^@ NM_203473.2(PORCN):c.1143G>A (p.Ser381=) http://identifiers.org/clinvar/194141 ^@ NM_001271208.1(NEB):c.21856C>G (p.Gln7286Glu) http://identifiers.org/clinvar/194142 ^@ NM_001271208.1(NEB):c.22110G>A (p.Thr7370=) http://identifiers.org/clinvar/194143 ^@ NM_001256850.1(TTN):c.31139C>T (p.Pro10380Leu) http://identifiers.org/clinvar/194144 ^@ NM_004543.4(NEB):c.17007A>G (p.Pro5669=) http://identifiers.org/clinvar/194145 ^@ NM_033071.3(SYNE1):c.22932+6T>G http://identifiers.org/clinvar/194146 ^@ NM_001267550.2(TTN):c.32471-1G>A http://identifiers.org/clinvar/194147 ^@ NM_033071.3(SYNE1):c.23102G>A (p.Arg7701Gln) http://identifiers.org/clinvar/194148 ^@ NM_033071.3(SYNE1):c.23267C>G (p.Ala7756Gly) http://identifiers.org/clinvar/194149 ^@ NM_000070.2(CAPN3):c.1745+4_1745+7delAGTG http://identifiers.org/clinvar/194150 ^@ NM_000071.2(CBS):c.1218delG (p.Lys406Asnfs) http://identifiers.org/clinvar/194151 ^@ NM_000096.3(CP):c.2286-15G>T http://identifiers.org/clinvar/194152 ^@ NM_000124.3(ERCC6):c.2403C>T (p.Ala801=) http://identifiers.org/clinvar/194153 ^@ NM_000128.3(F11):c.1560G>T (p.Gly520=) http://identifiers.org/clinvar/194154 ^@ NM_000152.4(GAA):c.1802C>T (p.Ser601Leu) http://identifiers.org/clinvar/194155 ^@ NM_000180.3(GUCY2D):c.2552G>C (p.Arg851Pro) http://identifiers.org/clinvar/194156 ^@ NM_000180.3(GUCY2D):c.2504T>G (p.Ile835Ser) http://identifiers.org/clinvar/194157 ^@ NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) http://identifiers.org/clinvar/194158 ^@ NM_000271.4(NPC1):c.2073G>A (p.Pro691=) http://identifiers.org/clinvar/194159 ^@ NM_000271.4(NPC1):c.2103C>T (p.Asn701=) http://identifiers.org/clinvar/194160 ^@ NM_000275.2(OCA2):c.1255C>T (p.Arg419Trp) http://identifiers.org/clinvar/194161 ^@ NM_000277.1(PAH):c.1352_1356delTAAAG (p.Ter453Profs) http://identifiers.org/clinvar/194162 ^@ NM_000280.4(PAX6):c.1242_1243insATATG (p.Ser415Ilefs) http://identifiers.org/clinvar/194163 ^@ NM_000282.3(PCCA):c.1136G>T (p.Gly379Val) http://identifiers.org/clinvar/194164 ^@ NM_000283.3(PDE6B):c.1685G>A (p.Gly562Asp) http://identifiers.org/clinvar/194165 ^@ NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter) http://identifiers.org/clinvar/194166 ^@ NM_000287.3(PEX6):c.2436G>A (p.Arg812=) http://identifiers.org/clinvar/194167 ^@ NM_000336.2(SCNN1B):c.1663C>T (p.Leu555=) http://identifiers.org/clinvar/194168 ^@ NM_000336.2(SCNN1B):c.1731C>T (p.Thr577=) http://identifiers.org/clinvar/194169 ^@ NM_000391.3(TPP1):c.1552-9C>T http://identifiers.org/clinvar/194170 ^@ NM_000425.4(L1CAM):c.1547-4T>A http://identifiers.org/clinvar/194171 ^@ NM_000426.3(LAMA2):c.1816A>G (p.Ile606Val) http://identifiers.org/clinvar/194172 ^@ NM_000426.3(LAMA2):c.1855_1856insATGTTCAC (p.Arg619Hisfs) http://identifiers.org/clinvar/194173 ^@ NM_000426.3(LAMA2):c.1882G>A (p.Glu628Lys) http://identifiers.org/clinvar/194174 ^@ NM_000440.2(PDE6A):c.1728+4T>C http://identifiers.org/clinvar/194175 ^@ NM_000445.4(PLEC):c.1295C>T (p.Ala432Val) http://identifiers.org/clinvar/194177 ^@ NM_000512.4(GALNS):c.1421A>C (p.Gln474Pro) http://identifiers.org/clinvar/194178 ^@ NM_000512.4(GALNS):c.1462G>A (p.Val488Met) http://identifiers.org/clinvar/194179 ^@ NM_000521.3(HEXB):c.1517_1529dupCAAGTGCTGTTGG (p.Glu511Lysfs) http://identifiers.org/clinvar/194180 ^@ NM_000521.3(HEXB):c.1535_1536delGA (p.Arg512Thrfs) http://identifiers.org/clinvar/194181 ^@ NM_000532.4(PCCB):c.1398+1G>T http://identifiers.org/clinvar/194182 ^@ NM_000548.4(TSC2):c.1258-10C>G http://identifiers.org/clinvar/194183 ^@ NM_000702.3(ATP1A2):c.1666A>T (p.Asn556Tyr) http://identifiers.org/clinvar/194184 ^@ NM_000719.6(CACNA1C):c.1707A>G (p.Ala569=) http://identifiers.org/clinvar/194185 ^@ NM_000875.4(IGF1R):c.2700C>T (p.Asn900=) http://identifiers.org/clinvar/194186 ^@ NM_000883.3(IMPDH1):c.1405+9A>G http://identifiers.org/clinvar/194187 ^@ NM_000927.4(ABCB1):c.1236T>C (p.Gly412=) http://identifiers.org/clinvar/194188 ^@ NM_001017995.2(SH3PXD2B):c.1422G>A (p.Pro474=) http://identifiers.org/clinvar/194189 ^@ NM_001017995.2(SH3PXD2B):c.1291G>A (p.Ala431Thr) http://identifiers.org/clinvar/194190 ^@ NM_001038.5(SCNN1A):c.1853G>T (p.Cys618Phe) http://identifiers.org/clinvar/194191 ^@ NM_001039.3(SCNN1G):c.1824T>C (p.Ala608=) http://identifiers.org/clinvar/194192 ^@ NM_001080522.2(CC2D2A):c.1324C>T (p.His442Tyr) http://identifiers.org/clinvar/194193 ^@ NM_001082538.2(TCTN1):c.1563C>T (p.Tyr521=) http://identifiers.org/clinvar/194194 ^@ NM_001142800.1(EYS):c.2055T>A (p.Cys685Ter) http://identifiers.org/clinvar/194195 ^@ NM_001297.4(CNGB1):c.878G>A (p.Ser293Asn) http://identifiers.org/clinvar/194196 ^@ NM_001456.3(FLNA):c.1875C>T (p.Asp625=) http://identifiers.org/clinvar/194197 ^@ NM_001458.4(FLNC):c.2008-7C>T http://identifiers.org/clinvar/194198 ^@ NM_001458.4(FLNC):c.2040C>T (p.Thr680=) http://identifiers.org/clinvar/194199 ^@ NM_001844.4(COL2A1):c.870+5G>A http://identifiers.org/clinvar/194200 ^@ NM_001848.2(COL6A1):c.981C>T (p.Ile327=) http://identifiers.org/clinvar/194201 ^@ NM_001031847.2(CPT1A):c.1467G>A (p.Met489Ile) http://identifiers.org/clinvar/194202 ^@ NM_002025.3(AFF2):c.2780G>A (p.Arg927His) http://identifiers.org/clinvar/194203 ^@ NM_002047.3(GARS):c.1614-4G>C http://identifiers.org/clinvar/194204 ^@ NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) http://identifiers.org/clinvar/194205 ^@ NM_002206.2(ITGA7):c.1771G>A (p.Val591Met) http://identifiers.org/clinvar/194206 ^@ NM_002334.3(LRP4):c.1551T>C (p.Ala517=) http://identifiers.org/clinvar/194207 ^@ NM_002977.3(SCN9A):c.1942-3delT http://identifiers.org/clinvar/194209 ^@ NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) http://identifiers.org/clinvar/194210 ^@ NM_003322.5(TULP1):c.1323+9C>T http://identifiers.org/clinvar/194211 ^@ NM_003322.5(TULP1):c.1319G>A (p.Arg440Gln) http://identifiers.org/clinvar/194212 ^@ NM_003383.4(VLDLR):c.1901G>A (p.Arg634His) http://identifiers.org/clinvar/194213 ^@ NM_003611.2(OFD1):c.1399C>T (p.Arg467Cys) http://identifiers.org/clinvar/194214 ^@ NM_003742.2(ABCB11):c.1331T>C (p.Val444Ala) http://identifiers.org/clinvar/194215 ^@ NM_004006.2(DMD):c.1533_1536delTCAC (p.His512Trpfs) http://identifiers.org/clinvar/194216 ^@ NM_004239.4(TRIP11):c.4892+10delT http://identifiers.org/clinvar/194217 ^@ NM_004380.2(CREBBP):c.2399C>T (p.Pro800Leu) http://identifiers.org/clinvar/194218 ^@ NM_004463.2(FGD1):c.2016-2A>G http://identifiers.org/clinvar/194219 ^@ NM_005045.3(RELN):c.1442-8T>C http://identifiers.org/clinvar/194220 ^@ NM_005270.4(GLI2):c.3048C>T (p.Asp1016=) http://identifiers.org/clinvar/194221 ^@ NM_005270.4(GLI2):c.3835C>A (p.His1279Asn) http://identifiers.org/clinvar/194222 ^@ NM_005270.4(GLI2):c.2302C>T (p.Leu768=) http://identifiers.org/clinvar/194223 ^@ NM_005270.4(GLI2):c.3590G>A (p.Gly1197Asp) http://identifiers.org/clinvar/194224 ^@ NM_005270.4(GLI2):c.3469C>T (p.Leu1157=) http://identifiers.org/clinvar/194225 ^@ NM_005270.4(GLI2):c.4628G>A (p.Arg1543His) http://identifiers.org/clinvar/194226 ^@ NM_005270.4(GLI2):c.4151G>A (p.Arg1384His) http://identifiers.org/clinvar/194227 ^@ NM_005270.4(GLI2):c.3018C>T (p.Gly1006=) http://identifiers.org/clinvar/194228 ^@ NM_005270.4(GLI2):c.2940C>T (p.Ser980=) http://identifiers.org/clinvar/194229 ^@ NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) http://identifiers.org/clinvar/194230 ^@ NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) http://identifiers.org/clinvar/194231 ^@ NM_005270.4(GLI2):c.4054A>G (p.Met1352Val) http://identifiers.org/clinvar/194232 ^@ NM_005559.3(LAMA1):c.1828G>A (p.Val610Ile) http://identifiers.org/clinvar/194233 ^@ NM_005609.3(PYGM):c.1537A>G (p.Ile513Val) http://identifiers.org/clinvar/194234 ^@ NM_005709.3(USH1C):c.1069C>T (p.Arg357Trp) http://identifiers.org/clinvar/194235 ^@ NM_006017.2(PROM1):c.1469G>A (p.Ser490Asn) http://identifiers.org/clinvar/194236 ^@ NM_006019.3(TCIRG1):c.1515C>T (p.Thr505=) http://identifiers.org/clinvar/194237 ^@ NM_001042537.1(SLC9A6):c.1624G>A (p.Val542Ile) http://identifiers.org/clinvar/194238 ^@ NM_006922.3(SCN3A):c.2003G>A (p.Gly668Glu) http://identifiers.org/clinvar/194239 ^@ NM_006922.3(SCN3A):c.1760T>C (p.Val587Ala) http://identifiers.org/clinvar/194240 ^@ NM_006946.2(SPTBN2):c.1719C>T (p.His573=) http://identifiers.org/clinvar/194241 ^@ NM_006949.3(STXBP2):c.1034C>T (p.Thr345Met) http://identifiers.org/clinvar/194242 ^@ NM_007254.3(PNKP):c.1177C>T (p.His393Tyr) http://identifiers.org/clinvar/194243 ^@ NM_007294.3(BRCA1):c.4392T>A (p.Pro1464=) http://identifiers.org/clinvar/194244 ^@ NM_007294.3(BRCA1):c.4384G>A (p.Glu1462Lys) http://identifiers.org/clinvar/194245 ^@ NM_012144.3(DNAI1):c.1222G>A (p.Val408Met) http://identifiers.org/clinvar/194247 ^@ NM_013382.5(POMT2):c.1404A>G (p.Lys468=) http://identifiers.org/clinvar/194248 ^@ NM_014191.3(SCN8A):c.2073C>T (p.Tyr691=) http://identifiers.org/clinvar/194249 ^@ NM_014425.4(INVS):c.1971C>G (p.Asp657Glu) http://identifiers.org/clinvar/194250 ^@ NM_014425.4(INVS):c.1925A>G (p.Lys642Arg) http://identifiers.org/clinvar/194251 ^@ NM_014956.4(CEP164):c.1430A>G (p.His477Arg) http://identifiers.org/clinvar/194253 ^@ NM_015102.4(NPHP4):c.1533G>A (p.Pro511=) http://identifiers.org/clinvar/194254 ^@ NM_016247.3(IMPG2):c.2372A>G (p.Glu791Gly) http://identifiers.org/clinvar/194255 ^@ NM_017651.4(AHI1):c.1791C>T (p.Ile597=) http://identifiers.org/clinvar/194256 ^@ NM_017890.4(VPS13B):c.1768G>A (p.Ala590Thr) http://identifiers.org/clinvar/194257 ^@ NM_015243.2(VPS13B):c.1770G>A (p.Ala590=) http://identifiers.org/clinvar/194258 ^@ NM_019109.4(ALG1):c.1287T>A (p.Asp429Glu) http://identifiers.org/clinvar/194259 ^@ NM_020549.4(CHAT):c.1823C>A (p.Thr608Asn) http://identifiers.org/clinvar/194260 ^@ NM_021625.4(TRPV4):c.2106C>T (p.Tyr702=) http://identifiers.org/clinvar/194261 ^@ NM_022367.3(SEMA4A):c.1529G>A (p.Arg510Gln) http://identifiers.org/clinvar/194262 ^@ NM_022436.2(ABCG5):c.1864A>G (p.Met622Val) http://identifiers.org/clinvar/194263 ^@ NM_022436.2(ABCG5):c.1763-7T>G http://identifiers.org/clinvar/194264 ^@ NM_024312.4(GNPTAB):c.1931C>T (p.Thr644Ile) http://identifiers.org/clinvar/194265 ^@ NM_024312.4(GNPTAB):c.1906dupA (p.Arg636Lysfs) http://identifiers.org/clinvar/194266 ^@ NM_024312.4(GNPTAB):c.1931_1932delCAinsTG (p.Thr644Met) http://identifiers.org/clinvar/194267 ^@ NM_024577.3(SH3TC2):c.3095G>A (p.Arg1032His) http://identifiers.org/clinvar/194268 ^@ NM_024577.3(SH3TC2):c.3097A>G (p.Ile1033Val) http://identifiers.org/clinvar/194269 ^@ NM_024596.4(MCPH1):c.2434T>C (p.Ser812Pro) http://identifiers.org/clinvar/194270 ^@ NM_024757.4(EHMT1):c.2039C>T (p.Ser680Leu) http://identifiers.org/clinvar/194271 ^@ NM_025114.3(CEP290):c.1175T>G (p.Leu392Arg) http://identifiers.org/clinvar/194272 ^@ NM_031220.3(PITPNM3):c.1688C>T (p.Thr563Met) http://identifiers.org/clinvar/194273 ^@ NM_031220.3(PITPNM3):c.1625-9G>A http://identifiers.org/clinvar/194274 ^@ NM_015645.4(C1QTNF5):c.-1002G>A http://identifiers.org/clinvar/194275 ^@ NM_033071.3(SYNE1):c.1162G>A (p.Asp388Asn) http://identifiers.org/clinvar/194276 ^@ NM_001177317.1(SLC34A3):c.*14A>C http://identifiers.org/clinvar/194277 ^@ NM_001177317.1(SLC34A3):c.1538T= (p.Val513=) http://identifiers.org/clinvar/194278 ^@ NM_001177317.1(SLC34A3):c.1585A>T (p.Ile529Phe) http://identifiers.org/clinvar/194279 ^@ NM_001177317.1(SLC34A3):c.1454G>A (p.Arg485His) http://identifiers.org/clinvar/194280 ^@ NM_139241.3(FGD4):c.1560C>T (p.Ile520=) http://identifiers.org/clinvar/194281 ^@ NM_139343.2(BIN1):c.1142C>T (p.Pro381Leu) http://identifiers.org/clinvar/194282 ^@ NM_153717.2(EVC):c.1826G>A (p.Arg609Gln) http://identifiers.org/clinvar/194283 ^@ NM_153717.2(EVC):c.1855G>A (p.Val619Ile) http://identifiers.org/clinvar/194284 ^@ NM_172107.3(KCNQ2):c.1503C>T (p.Ala501=) http://identifiers.org/clinvar/194285 ^@ NM_172364.4(CACNA2D4):c.1359C>T (p.Tyr453=) http://identifiers.org/clinvar/194286 ^@ NM_194318.3(B3GLCT):c.1067_1082del16 (p.Ile356Thrfs) http://identifiers.org/clinvar/194287 ^@ NM_194318.3(B3GLCT):c.1065-1G>A http://identifiers.org/clinvar/194288 ^@ NM_000335.4(SCN5A):c.2013C>T (p.Ser671=) http://identifiers.org/clinvar/194289 ^@ NM_198525.2(KIF7):c.2672G>C (p.Arg891Thr) http://identifiers.org/clinvar/194290 ^@ NM_207361.5(FREM2):c.7062G>A (p.Thr2354=) http://identifiers.org/clinvar/194291 ^@ NM_001271208.1(NEB):c.23009G>A (p.Gly7670Glu) http://identifiers.org/clinvar/194292 ^@ NM_004543.4(NEB):c.17775C>A (p.Ala5925=) http://identifiers.org/clinvar/194293 ^@ NM_033071.3(SYNE1):c.23500G>A (p.Glu7834Lys) http://identifiers.org/clinvar/194294 ^@ NM_033071.3(SYNE1):c.23491G>A (p.Ala7831Thr) http://identifiers.org/clinvar/194295 ^@ NM_004543.4(NEB):c.17910C>T (p.Ser5970=) http://identifiers.org/clinvar/194296 ^@ NM_001267550.2(TTN):c.32808G>T (p.Val10936=) http://identifiers.org/clinvar/194297 ^@ NM_004543.4(NEB):c.17952G>A (p.Gly5984=) http://identifiers.org/clinvar/194298 ^@ NM_001267550.2(TTN):c.32970_32987del18 (p.Glu10990_Tyr10995del) http://identifiers.org/clinvar/194299 ^@ NM_033071.3(SYNE1):c.24136C>T (p.Arg8046Trp) http://identifiers.org/clinvar/194300 ^@ NM_033071.3(SYNE1):c.24356A>C (p.Asp8119Ala) http://identifiers.org/clinvar/194301 ^@ NM_001256850.1(TTN):c.32389+5A>C http://identifiers.org/clinvar/194302 ^@ NM_001267550.2(TTN):c.33267A>G (p.Lys11089=) http://identifiers.org/clinvar/194303 ^@ NM_033071.3(SYNE1):c.24739C>T (p.Leu8247Phe) http://identifiers.org/clinvar/194304 ^@ NM_033071.3(SYNE1):c.24654T>C (p.Tyr8218=) http://identifiers.org/clinvar/194305 ^@ NM_033071.3(SYNE1):c.24614C>G (p.Ala8205Gly) http://identifiers.org/clinvar/194306 ^@ NM_033071.3(SYNE1):c.24510C>G (p.His8170Gln) http://identifiers.org/clinvar/194307 ^@ NM_001267550.2(TTN):c.33382C>G (p.Pro11128Ala) http://identifiers.org/clinvar/194308 ^@ NM_001271208.1(NEB):c.23704A>C (p.Lys7902Gln) http://identifiers.org/clinvar/194309 ^@ NM_033071.3(SYNE1):c.24786T>G (p.Pro8262=) http://identifiers.org/clinvar/194311 ^@ NM_001271208.1(NEB):c.23755-5T>G http://identifiers.org/clinvar/194312 ^@ NM_001271208.1(NEB):c.23881C>T (p.Pro7961Ser) http://identifiers.org/clinvar/194313 ^@ NM_000018.3(ACADVL):c.1434+14T>A http://identifiers.org/clinvar/194315 ^@ NM_000018.3(ACADVL):c.1366C>T (p.Arg456Cys) http://identifiers.org/clinvar/194316 ^@ NM_000018.3(ACADVL):c.1367G>A (p.Arg456His) http://identifiers.org/clinvar/194317 ^@ NM_000018.3(ACADVL):c.1357C>T (p.Arg453Ter) http://identifiers.org/clinvar/194318 ^@ NM_000071.2(CBS):c.1257G>A (p.Leu419=) http://identifiers.org/clinvar/194320 ^@ NM_000093.4(COL5A1):c.1663-1G>C http://identifiers.org/clinvar/194321 ^@ NM_000152.4(GAA):c.1889-5C>T http://identifiers.org/clinvar/194322 ^@ NM_000153.3(GALC):c.1543G>A (p.Glu515Lys) http://identifiers.org/clinvar/194323 ^@ NM_000180.3(GUCY2D):c.2577G>T (p.Pro859=) http://identifiers.org/clinvar/194324 ^@ NM_000182.4(HADHA):c.1418C>A (p.Ala473Asp) http://identifiers.org/clinvar/194327 ^@ NM_000272.3(NPHP1):c.1438-4C>T http://identifiers.org/clinvar/194328 ^@ NM_000283.3(PDE6B):c.1781G>T (p.Gly594Val) http://identifiers.org/clinvar/194329 ^@ NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) http://identifiers.org/clinvar/194330 ^@ NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) http://identifiers.org/clinvar/194331 ^@ NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) http://identifiers.org/clinvar/194333 ^@ NM_000440.2(PDE6A):c.1730C>T (p.Thr577Met) http://identifiers.org/clinvar/194334 ^@ NM_000443.3(ABCB4):c.1584G>C (p.Glu528Asp) http://identifiers.org/clinvar/194335 ^@ NM_000466.2(PEX1):c.2271G>C (p.Leu757Phe) http://identifiers.org/clinvar/194336 ^@ NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) http://identifiers.org/clinvar/194338 ^@ NM_000512.4(GALNS):c.1513G>A (p.Gly505Arg) http://identifiers.org/clinvar/194339 ^@ NM_000520.5(HEXA):c.1527-6T>C http://identifiers.org/clinvar/194340 ^@ NM_000521.3(HEXB):c.1616_1617insTTCATGTTATCTACAGAC (p.Arg539_Gly540insSerCysTyrLeuGlnThr) http://identifiers.org/clinvar/194341 ^@ NM_000719.6(CACNA1C):c.2073C>T (p.Asn691=) http://identifiers.org/clinvar/194342 ^@ NM_000719.6(CACNA1C):c.2068G>A (p.Asp690Asn) http://identifiers.org/clinvar/194343 ^@ NM_000726.4(CACNB4):c.*4T>C http://identifiers.org/clinvar/194344 ^@ NM_000726.4(CACNB4):c.1437G>A (p.Gln479=) http://identifiers.org/clinvar/194345 ^@ NM_000883.3(IMPDH1):c.1460_1462delTCT (p.Phe487del) http://identifiers.org/clinvar/194346 ^@ NM_001033855.2(DCLRE1C):c.1333C>T (p.Arg445Cys) http://identifiers.org/clinvar/194347 ^@ NM_001033855.2(DCLRE1C):c.2001A>G (p.Leu667=) http://identifiers.org/clinvar/194348 ^@ NM_001080463.1(DYNC2H1):c.1966G>A (p.Gly656Arg) http://identifiers.org/clinvar/194349 ^@ NM_001080463.1(DYNC2H1):c.2005A>G (p.Lys669Glu) http://identifiers.org/clinvar/194350 ^@ NM_001080522.2(CC2D2A):c.1418C>T (p.Ser473Phe) http://identifiers.org/clinvar/194351 ^@ NM_001083961.1(WDR62):c.1769-7C>T http://identifiers.org/clinvar/194352 ^@ NM_001277313.1(FMN1):c.3974A>G (p.Gln1325Arg) http://identifiers.org/clinvar/194353 ^@ NM_015170.2(SULF1):c.1483C>G (p.Arg495Gly) http://identifiers.org/clinvar/194354 ^@ NM_003494.3(DYSF):c.1343T>C (p.Leu448Pro) http://identifiers.org/clinvar/194355 ^@ NM_000319.4(PEX5):c.1389G>C (p.Val463=) http://identifiers.org/clinvar/194356 ^@ NM_001134363.2(RBM20):c.3584C>A (p.Ser1195Tyr) http://identifiers.org/clinvar/194357 ^@ NM_001142800.1(EYS):c.2234A>G (p.Asn745Ser) http://identifiers.org/clinvar/194358 ^@ NM_001142800.1(EYS):c.2194C>T (p.Gln732Ter) http://identifiers.org/clinvar/194359 ^@ NM_001165963.1(SCN1A):c.2421C>T (p.Phe807=) http://identifiers.org/clinvar/194362 ^@ NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr) http://identifiers.org/clinvar/194364 ^@ NM_001369.2(DNAH5):c.1955G>A (p.Ser652Asn) http://identifiers.org/clinvar/194365 ^@ NM_001793.5(CDH3):c.2003-10A>G http://identifiers.org/clinvar/194366 ^@ NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu) http://identifiers.org/clinvar/194367 ^@ NM_002047.3(GARS):c.1716G>A (p.Pro572=) http://identifiers.org/clinvar/194368 ^@ NM_002180.2(IGHMBP2):c.2636C>A (p.Thr879Lys) http://identifiers.org/clinvar/194369 ^@ NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) http://identifiers.org/clinvar/194370 ^@ NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) http://identifiers.org/clinvar/194371 ^@ NM_001014797.2(KCNMA1):c.1641C>T (p.Asp547=) http://identifiers.org/clinvar/194372 ^@ NM_002290.4(LAMA4):c.1652C>T (p.Ala551Val) http://identifiers.org/clinvar/194373 ^@ NM_002310.5(LIFR):c.1899A>G (p.Ile633Met) http://identifiers.org/clinvar/194374 ^@ NM_002334.3(LRP4):c.1915+6C>T http://identifiers.org/clinvar/194375 ^@ NM_002547.2(OPHN1):c.1184A>G (p.Asn395Ser) http://identifiers.org/clinvar/194376 ^@ NM_002693.2(POLG):c.2369G>A (p.Arg790His) http://identifiers.org/clinvar/194377 ^@ NM_002739.4(PRKCG):c.1524C>A (p.Pro508=) http://identifiers.org/clinvar/194378 ^@ NM_002739.4(PRKCG):c.1497T>C (p.Phe499=) http://identifiers.org/clinvar/194379 ^@ NM_002863.4(PYGL):c.1648dupC (p.Leu550Profs) http://identifiers.org/clinvar/194380 ^@ NM_003322.5(TULP1):c.1376T>C (p.Ile459Thr) http://identifiers.org/clinvar/194381 ^@ NM_003482.3(KMT2D):c.4168dupG (p.Ala1390Glyfs) http://identifiers.org/clinvar/194382 ^@ NM_003722.4(TP63):c.1837_1841delCCTTC (p.Pro613Serfs) http://identifiers.org/clinvar/194383 ^@ NM_003742.2(ABCB11):c.1605C>T (p.Ala535=) http://identifiers.org/clinvar/194384 ^@ NM_004006.2(DMD):c.1704+1G>A http://identifiers.org/clinvar/194386 ^@ NM_004380.2(CREBBP):c.2685delC (p.Gln897Argfs) http://identifiers.org/clinvar/194388 ^@ NM_005045.3(RELN):c.1600C>T (p.Pro534Ser) http://identifiers.org/clinvar/194389 ^@ NM_005609.3(PYGM):c.1768+1G>A http://identifiers.org/clinvar/194390 ^@ NM_005682.6(ADGRG1):c.1878C>T (p.Ile626=) http://identifiers.org/clinvar/194391 ^@ NM_005682.6(ADGRG1):c.1828C>T (p.Leu610=) http://identifiers.org/clinvar/194393 ^@ NM_006019.3(TCIRG1):c.1672G>C (p.Val558Leu) http://identifiers.org/clinvar/194394 ^@ NM_006359.2(SLC9A6):c.1569A>C (p.Glu523Asp) http://identifiers.org/clinvar/194395 ^@ NM_006657.2(FTCD):c.1607T>A (p.Leu536Ter) http://identifiers.org/clinvar/194396 ^@ NM_006922.3(SCN3A):c.2118G>A (p.Val706=) http://identifiers.org/clinvar/194397 ^@ NM_007254.3(PNKP):c.1298+7T>G http://identifiers.org/clinvar/194398 ^@ NM_007254.3(PNKP):c.1210C>T (p.Arg404Cys) http://identifiers.org/clinvar/194399 ^@ NM_007317.2(KIF22):c.1951-13_1951-10delTCCT http://identifiers.org/clinvar/194400 ^@ NM_013382.5(POMT2):c.1485-4A>C http://identifiers.org/clinvar/194401 ^@ NM_014141.5(CNTNAP2):c.2242G>T (p.Asp748Tyr) http://identifiers.org/clinvar/194402 ^@ NM_014191.3(SCN8A):c.2287A>G (p.Ile763Val) http://identifiers.org/clinvar/194403 ^@ NM_014251.2(SLC25A13):c.1434G>T (p.Gly478=) http://identifiers.org/clinvar/194404 ^@ NM_014425.4(INVS):c.2509C>T (p.Gln837Ter) http://identifiers.org/clinvar/194405 ^@ NM_014425.4(INVS):c.2686G>A (p.Val896Ile) http://identifiers.org/clinvar/194406 ^@ NM_014425.4(INVS):c.2785A>G (p.Ser929Gly) http://identifiers.org/clinvar/194407 ^@ NM_014425.4(INVS):c.2311G>A (p.Asp771Asn) http://identifiers.org/clinvar/194408 ^@ NM_014425.4(INVS):c.2776G>A (p.Ala926Thr) http://identifiers.org/clinvar/194409 ^@ NM_014874.3(MFN2):c.1452G>A (p.Thr484=) http://identifiers.org/clinvar/194410 ^@ NM_014956.4(CEP164):c.1639G>A (p.Glu547Lys) http://identifiers.org/clinvar/194411 ^@ NM_015102.4(NPHP4):c.1632C>T (p.Ala544=) http://identifiers.org/clinvar/194412 ^@ NM_001127897.3(RPGRIP1L):c.1592A>G (p.Glu531Gly) http://identifiers.org/clinvar/194413 ^@ NM_015311.2(OBSL1):c.4376G>A (p.Arg1459Gln) http://identifiers.org/clinvar/194414 ^@ NM_001130969.1(NSMF):c.1467C>T (p.Phe489=) http://identifiers.org/clinvar/194415 ^@ NM_015631.5(TCTN3):c.1774C>G (p.Leu592Val) http://identifiers.org/clinvar/194416 ^@ NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) http://identifiers.org/clinvar/194417 ^@ NM_001123383.1(BCOR):c.4760dupC (p.Gly1588Argfs) http://identifiers.org/clinvar/194418 ^@ NM_001165927.1(MKS1):c.1166G>C (p.Cys389Ser) http://identifiers.org/clinvar/194419 ^@ NM_017780.3(CHD7):c.3463C>T (p.Arg1155Cys) http://identifiers.org/clinvar/194420 ^@ NM_019098.4(CNGB3):c.1607T>C (p.Met536Thr) http://identifiers.org/clinvar/194421 ^@ NM_020366.3(RPGRIP1):c.2075A>G (p.His692Arg) http://identifiers.org/clinvar/194422 ^@ NM_020549.4(CHAT):c.1883G>A (p.Arg628Gln) http://identifiers.org/clinvar/194423 ^@ NM_020686.5(ABAT):c.1157C>T (p.Pro386Leu) http://identifiers.org/clinvar/194424 ^@ NM_020822.2(KCNT1):c.1394C>T (p.Thr465Met) http://identifiers.org/clinvar/194425 ^@ NM_020630.4(RET):c.2586_2592delGCAGTAT (p.Met862Ilefs) http://identifiers.org/clinvar/194426 ^@ NM_020630.4(RET):c.2454G>A (p.Glu818=) http://identifiers.org/clinvar/194427 ^@ NM_022067.3(VIPAS39):c.861C>T (p.Ser287=) http://identifiers.org/clinvar/194428 ^@ NM_022081.5(HPS4):c.*5C>T http://identifiers.org/clinvar/194429 ^@ NM_022369.3(STRA6):c.1223G>A (p.Arg408Gln) http://identifiers.org/clinvar/194430 ^@ NM_024596.4(MCPH1):c.2453-4_2453-3delCT http://identifiers.org/clinvar/194431 ^@ NM_024649.4(BBS1):c.1349G>A (p.Arg450Gln) http://identifiers.org/clinvar/194432 ^@ NM_024753.4(TTC21B):c.1697A>G (p.His566Arg) http://identifiers.org/clinvar/194433 ^@ NM_025074.6(FRAS1):c.1503C>T (p.Asp501=) http://identifiers.org/clinvar/194434 ^@ NM_025114.3(CEP290):c.1214C>T (p.Thr405Ile) http://identifiers.org/clinvar/194435 ^@ NM_030962.3(SBF2):c.1420T>C (p.Phe474Leu) http://identifiers.org/clinvar/194436 ^@ NM_001267550.2(TTN):c.2137C>A (p.Arg713=) http://identifiers.org/clinvar/194437 ^@ NM_138694.3(PKHD1):c.1018G>A (p.Gly340Arg) http://identifiers.org/clinvar/194438 ^@ NM_139241.3(FGD4):c.1659C>G (p.Ala553=) http://identifiers.org/clinvar/194439 ^@ NM_144612.6(LOXHD1):c.1843C>T (p.Arg615Trp) http://identifiers.org/clinvar/194440 ^@ NM_144966.5(FREM1):c.2274C>A (p.Gly758=) http://identifiers.org/clinvar/194441 ^@ NM_147127.4(EVC2):c.2151C>T (p.His717=) http://identifiers.org/clinvar/194442 ^@ NM_147127.4(EVC2):c.2263C>T (p.Gln755Ter) http://identifiers.org/clinvar/194443 ^@ NM_147127.4(EVC2):c.2244C>T (p.Thr748=) http://identifiers.org/clinvar/194444 ^@ NM_147127.4(EVC2):c.2301G>A (p.Gly767=) http://identifiers.org/clinvar/194445 ^@ NM_153717.2(EVC):c.1928G>A (p.Arg643His) http://identifiers.org/clinvar/194446 ^@ NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) http://identifiers.org/clinvar/194448 ^@ NM_206933.2(USH2A):c.2992A>G (p.Arg998Gly) http://identifiers.org/clinvar/194449 ^@ NM_033071.3(SYNE1):c.25473G>A (p.Glu8491=) http://identifiers.org/clinvar/194450 ^@ NM_033071.3(SYNE1):c.25642A>G (p.Met8548Val) http://identifiers.org/clinvar/194451 ^@ NM_033071.3(SYNE1):c.25607A>C (p.Asp8536Ala) http://identifiers.org/clinvar/194452 ^@ NM_001271208.1(NEB):c.24770_24771delTT (p.Phe8257Terfs) http://identifiers.org/clinvar/194453 ^@ NM_001271208.1(NEB):c.25472C>T (p.Thr8491Met) http://identifiers.org/clinvar/194454 ^@ NM_000050.4(ASS1):c.1134C>T (p.Asn378=) http://identifiers.org/clinvar/194455 ^@ NM_000052.6(ATP7A):c.3071T>A (p.Ile1024Lys) http://identifiers.org/clinvar/194456 ^@ NM_000088.3(COL1A1):c.959G>A (p.Gly320Asp) http://identifiers.org/clinvar/194457 ^@ NM_022970.3(FGFR2):c.2043C>T (p.Tyr681=) http://identifiers.org/clinvar/194458 ^@ NM_000152.4(GAA):c.2156C>A (p.Ala719Glu) http://identifiers.org/clinvar/194459 ^@ NM_000152.4(GAA):c.2157G>A (p.Ala719=) http://identifiers.org/clinvar/194461 ^@ NM_000168.5(GLI3):c.2826G>C (p.Pro942=) http://identifiers.org/clinvar/194462 ^@ NM_000168.5(GLI3):c.3664C>T (p.Pro1222Ser) http://identifiers.org/clinvar/194463 ^@ NM_000168.5(GLI3):c.2835G>C (p.Leu945=) http://identifiers.org/clinvar/194464 ^@ NM_000180.3(GUCY2D):c.2921G>A (p.Arg974His) http://identifiers.org/clinvar/194465 ^@ NM_000257.3(MYH7):c.1755C>T (p.Ile585=) http://identifiers.org/clinvar/194466 ^@ NM_000276.3(OCRL):c.1505T>C (p.Leu502Pro) http://identifiers.org/clinvar/194467 ^@ NM_001031835.2(PHKB):c.1438-9G>T http://identifiers.org/clinvar/194468 ^@ NM_000297.3(PKD2):c.2846C>G (p.Ser949Cys) http://identifiers.org/clinvar/194469 ^@ NM_000321.2(RB1):c.1401_1411dupATTATCCATTC (p.Gln471Hisfs) http://identifiers.org/clinvar/194470 ^@ NM_000321.2(RB1):c.1390-17T>A http://identifiers.org/clinvar/194471 ^@ NM_000392.4(ABCC2):c.1967+1G>A http://identifiers.org/clinvar/194472 ^@ NM_000426.3(LAMA2):c.2186G>T (p.Gly729Val) http://identifiers.org/clinvar/194473 ^@ NM_000440.2(PDE6A):c.1926+1G>A http://identifiers.org/clinvar/194474 ^@ NM_000445.4(PLEC):c.1542G>A (p.Glu514=) http://identifiers.org/clinvar/194475 ^@ NM_000445.4(PLEC):c.1626C>T (p.Pro542=) http://identifiers.org/clinvar/194476 ^@ NM_001007792.1(NTRK1):c.1949G>A (p.Arg650His) http://identifiers.org/clinvar/194477 ^@ NM_000086.2(CLN3):c.1163C>T (p.Ala388Val) http://identifiers.org/clinvar/194478 ^@ NM_001083961.1(WDR62):c.1873G>A (p.Val625Ile) http://identifiers.org/clinvar/194479 ^@ NM_001083962.1(TCF4):c.1245T>C (p.His415=) http://identifiers.org/clinvar/194480 ^@ NM_001277313.1(FMN1):c.4030_4032delAAG (p.Lys1344del) http://identifiers.org/clinvar/194481 ^@ NM_001111125.2(IQSEC2):c.4326A>C (p.Pro1442=) http://identifiers.org/clinvar/194482 ^@ NM_001111125.2(IQSEC2):c.4293C>T (p.Ile1431=) http://identifiers.org/clinvar/194483 ^@ NM_001135659.2(NRXN1):c.2905C>T (p.Leu969Phe) http://identifiers.org/clinvar/194484 ^@ NM_001135659.2(NRXN1):c.2687G>A (p.Arg896Gln) http://identifiers.org/clinvar/194485 ^@ NM_001135659.2(NRXN1):c.2622A>G (p.Gln874=) http://identifiers.org/clinvar/194486 ^@ NM_001135659.2(NRXN1):c.2627C>T (p.Ala876Val) http://identifiers.org/clinvar/194487 ^@ NM_020920.3(CHD8):c.2315T>G (p.Val772Gly) http://identifiers.org/clinvar/194488 ^@ NM_001195263.1(PDZD7):c.2438A>C (p.His813Pro) http://identifiers.org/clinvar/194490 ^@ NM_001277115.1(DNAH11):c.2682C>T (p.Leu894=) http://identifiers.org/clinvar/194491 ^@ NM_001297.4(CNGB1):c.1204G>A (p.Asp402Asn) http://identifiers.org/clinvar/194492 ^@ NM_001297.4(CNGB1):c.1122-15C>T http://identifiers.org/clinvar/194493 ^@ NM_002180.2(IGHMBP2):c.2796C>T (p.Cys932=) http://identifiers.org/clinvar/194494 ^@ NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) http://identifiers.org/clinvar/194495 ^@ NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) http://identifiers.org/clinvar/194496 ^@ NM_002454.2(MTRR):c.2071C>T (p.Arg691Cys) http://identifiers.org/clinvar/194497 ^@ NM_002609.3(PDGFRB):c.2126G>A (p.Arg709His) http://identifiers.org/clinvar/194498 ^@ NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) http://identifiers.org/clinvar/194499 ^@ NM_003159.2(CDKL5):c.2243A>G (p.Asn748Ser) http://identifiers.org/clinvar/194500 ^@ NM_003482.3(KMT2D):c.4265G>A (p.Trp1422Ter) http://identifiers.org/clinvar/194501 ^@ NM_003482.3(KMT2D):c.4414A>G (p.Lys1472Glu) http://identifiers.org/clinvar/194503 ^@ NM_003688.3(CASK):c.1419A>G (p.Pro473=) http://identifiers.org/clinvar/194504 ^@ NM_003742.2(ABCB11):c.1791G>T (p.Val597=) http://identifiers.org/clinvar/194505 ^@ NM_003742.2(ABCB11):c.1772A>G (p.Asn591Ser) http://identifiers.org/clinvar/194506 ^@ NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) http://identifiers.org/clinvar/194508 ^@ NM_004260.3(RECQL4):c.2538A>G (p.Val846=) http://identifiers.org/clinvar/194509 ^@ NM_004380.2(CREBBP):c.2903T>C (p.Ile968Thr) http://identifiers.org/clinvar/194510 ^@ NM_022977.2(ACSL4):c.1905T>G (p.Thr635=) http://identifiers.org/clinvar/194511 ^@ NM_004463.2(FGD1):c.2268C>T (p.Cys756=) http://identifiers.org/clinvar/194512 ^@ NM_004463.2(FGD1):c.2167C>T (p.Arg723Trp) http://identifiers.org/clinvar/194513 ^@ NM_004519.3(KCNQ3):c.1994C>T (p.Ser665Leu) http://identifiers.org/clinvar/194514 ^@ NM_004519.3(KCNQ3):c.2391C>T (p.His797=) http://identifiers.org/clinvar/194515 ^@ NM_004737.5(LARGE1):c.1976C>T (p.Pro659Leu) http://identifiers.org/clinvar/194516 ^@ NM_004737.5(LARGE1):c.1977G>A (p.Pro659=) http://identifiers.org/clinvar/194517 ^@ NM_004737.5(LARGE1):c.1962G>A (p.Glu654=) http://identifiers.org/clinvar/194518 ^@ NM_005045.3(RELN):c.1817C>T (p.Thr606Ile) http://identifiers.org/clinvar/194519 ^@ NM_005334.2(HCFC1):c.2590G>A (p.Ala864Thr) http://identifiers.org/clinvar/194520 ^@ NM_005529.6(HSPG2):c.1998+9C>T http://identifiers.org/clinvar/194521 ^@ NM_005677.3(COLQ):c.1176T>C (p.Asp392=) http://identifiers.org/clinvar/194522 ^@ NM_005682.6(ADGRG1):c.2001T>C (p.Gly667=) http://identifiers.org/clinvar/194523 ^@ NM_005682.6(ADGRG1):c.2058C>G (p.Gly686=) http://identifiers.org/clinvar/194524 ^@ NM_006037.3(HDAC4):c.2037C>T (p.Ala679=) http://identifiers.org/clinvar/194525 ^@ NM_006949.3(STXBP2):c.1298C>T (p.Ala433Val) http://identifiers.org/clinvar/194527 ^@ NM_007254.3(PNKP):c.1302C>T (p.Tyr434=) http://identifiers.org/clinvar/194528 ^@ NM_012301.3(MAGI2):c.2454C>T (p.Arg818=) http://identifiers.org/clinvar/194529 ^@ NM_014141.5(CNTNAP2):c.2369G>A (p.Arg790His) http://identifiers.org/clinvar/194530 ^@ NM_014141.5(CNTNAP2):c.2356G>T (p.Val786Leu) http://identifiers.org/clinvar/194531 ^@ NM_014141.5(CNTNAP2):c.2330G>C (p.Arg777Pro) http://identifiers.org/clinvar/194532 ^@ NM_014141.5(CNTNAP2):c.2292C>T (p.His764=) http://identifiers.org/clinvar/194533 ^@ NM_014425.4(INVS):c.2933C>T (p.Ala978Val) http://identifiers.org/clinvar/194534 ^@ NM_148898.3(FOXP2):c.1914+9C>T http://identifiers.org/clinvar/194535 ^@ NM_148898.3(FOXP2):c.1845-4delT http://identifiers.org/clinvar/194537 ^@ NM_014714.3(IFT140):c.1727G>A (p.Arg576Gln) http://identifiers.org/clinvar/194538 ^@ NM_014780.4(CUL7):c.2885G>A (p.Arg962Gln) http://identifiers.org/clinvar/194539 ^@ NM_015102.4(NPHP4):c.1927A>G (p.Met643Val) http://identifiers.org/clinvar/194540 ^@ NM_015107.2(PHF8):c.1731-1G>A http://identifiers.org/clinvar/194541 ^@ NM_001127897.3(RPGRIP1L):c.2030C>T (p.Thr677Ile) http://identifiers.org/clinvar/194542 ^@ NM_001127897.3(RPGRIP1L):c.1812A>G (p.Glu604=) http://identifiers.org/clinvar/194543 ^@ NM_015346.3(ZFYVE26):c.2742C>T (p.Ser914=) http://identifiers.org/clinvar/194544 ^@ NM_015645.4(C1QTNF5):c.294C>T (p.Cys98=) http://identifiers.org/clinvar/194545 ^@ NM_017653.3(DYM):c.1662A>G (p.Val554=) http://identifiers.org/clinvar/194546 ^@ NM_017780.3(CHD7):c.3697G>A (p.Gly1233Ser) http://identifiers.org/clinvar/194547 ^@ NM_017780.3(CHD7):c.3712G>A (p.Val1238Ile) http://identifiers.org/clinvar/194548 ^@ NM_015243.2(VPS13B):c.2056C>T (p.Arg686Trp) http://identifiers.org/clinvar/194549 ^@ NM_017890.4(VPS13B):c.2075G>A (p.Arg692Gln) http://identifiers.org/clinvar/194550 ^@ NM_018699.3(PRDM5):c.1652G>A (p.Ser551Asn) http://identifiers.org/clinvar/194551 ^@ NM_019098.4(CNGB3):c.1688T>C (p.Ile563Thr) http://identifiers.org/clinvar/194552 ^@ NM_020166.4(MCCC1):c.1700C>T (p.Thr567Met) http://identifiers.org/clinvar/194553 ^@ NM_020631.4(PLEKHG5):c.1616C>T (p.Ala539Val) http://identifiers.org/clinvar/194554 ^@ NM_020631.4(PLEKHG5):c.1572C>T (p.His524=) http://identifiers.org/clinvar/194555 ^@ NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln) http://identifiers.org/clinvar/194556 ^@ NM_022132.4(MCCC2):c.1441G>A (p.Val481Met) http://identifiers.org/clinvar/194557 ^@ NM_022356.3(P3H1):c.2152C>G (p.Pro718Ala) http://identifiers.org/clinvar/194558 ^@ NM_022356.3(P3H1):c.2148C= (p.Gly716=) http://identifiers.org/clinvar/194559 ^@ NM_001193301.1(SEMA4A):c.1744C>T (p.His582Tyr) http://identifiers.org/clinvar/194560 ^@ NM_022369.3(STRA6):c.1385delA (p.Asn462Thrfs) http://identifiers.org/clinvar/194561 ^@ NM_023073.3(C5orf42):c.2624C>T (p.Ser875Phe) http://identifiers.org/clinvar/194562 ^@ NM_025114.3(CEP290):c.1384G>A (p.Val462Ile) http://identifiers.org/clinvar/194563 ^@ NM_025114.3(CEP290):c.1522+6C>T http://identifiers.org/clinvar/194564 ^@ NM_178443.2(FERMT3):c.1905C>T (p.Ile635=) http://identifiers.org/clinvar/194565 ^@ NM_178443.2(FERMT3):c.1929G>A (p.Thr643=) http://identifiers.org/clinvar/194566 ^@ NM_032682.5(FOXP1):c.1317C>A (p.Tyr439Ter) http://identifiers.org/clinvar/194567 ^@ NM_032682.5(FOXP1):c.1240dupC (p.Leu414Profs) http://identifiers.org/clinvar/194568 ^@ NM_053025.3(MYLK):c.2120A>G (p.Gln707Arg) http://identifiers.org/clinvar/194569 ^@ NM_178170.2(NEK8):c.2052G>A (p.Ser684=) http://identifiers.org/clinvar/194570 ^@ NM_000935.2(PLOD2):c.1576T>C (p.Tyr526His) http://identifiers.org/clinvar/194571 ^@ NM_198525.2(KIF7):c.3100C>T (p.Leu1034=) http://identifiers.org/clinvar/194572 ^@ NM_198525.2(KIF7):c.2981A>G (p.Gln994Arg) http://identifiers.org/clinvar/194573 ^@ NM_198525.2(KIF7):c.2960A>T (p.Glu987Val) http://identifiers.org/clinvar/194574 ^@ NM_207361.5(FREM2):c.7520-5dupT http://identifiers.org/clinvar/194575 ^@ NM_207361.5(FREM2):c.7520-6_7520-5dupTT http://identifiers.org/clinvar/194576 ^@ NM_207361.5(FREM2):c.7520-10_7520-9insCT http://identifiers.org/clinvar/194577 ^@ NM_213599.2(ANO5):c.1520delT (p.Phe507Serfs) http://identifiers.org/clinvar/194578 ^@ NM_001271208.1(NEB):c.25647C>T (p.Thr8549=) http://identifiers.org/clinvar/194579 ^@ NM_001267550.2(TTN):c.35168T>C (p.Ile11723Thr) http://identifiers.org/clinvar/194580 ^@ NM_133378.4(TTN):c.31559C>T (p.Ala10520Val) http://identifiers.org/clinvar/194581 ^@ NM_001267550.2(TTN):c.37329A>G (p.Pro12443=) http://identifiers.org/clinvar/194582 ^@ NM_001267550.2(TTN):c.39289C>G (p.Pro13097Ala) http://identifiers.org/clinvar/194583 ^@ NM_000036.2(AMPD1):c.2272A>G (p.Met758Val) http://identifiers.org/clinvar/194584 ^@ NM_000038.5(APC):c.2563_2564delGA (p.Glu855Thrfs) http://identifiers.org/clinvar/194585 ^@ NM_000038.5(APC):c.4348C>T (p.Arg1450Ter) http://identifiers.org/clinvar/194587 ^@ NM_000071.2(CBS):c.1526C>T (p.Ala509Val) http://identifiers.org/clinvar/194588 ^@ NM_000071.2(CBS):c.1527C>T (p.Ala509=) http://identifiers.org/clinvar/194589 ^@ NM_000096.3(CP):c.2662-12T>C http://identifiers.org/clinvar/194590 ^@ NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) http://identifiers.org/clinvar/194591 ^@ NM_022970.3(FGFR2):c.2109G>A (p.Ser703=) http://identifiers.org/clinvar/194592 ^@ NM_000275.2(OCA2):c.1752C>T (p.His584=) http://identifiers.org/clinvar/194593 ^@ NM_000282.3(PCCA):c.1429+7A>G http://identifiers.org/clinvar/194594 ^@ NM_000287.3(PEX6):c.2746T>C (p.Ser916Pro) http://identifiers.org/clinvar/194595 ^@ NM_000316.2(PTH1R):c.1705T>G (p.Ser569Ala) http://identifiers.org/clinvar/194596 ^@ NM_000404.3(GLB1):c.1768C>T (p.Arg590Cys) http://identifiers.org/clinvar/194597 ^@ NM_000425.4(L1CAM):c.1993C>G (p.Leu665Val) http://identifiers.org/clinvar/194598 ^@ NM_000425.4(L1CAM):c.1962C>T (p.Asp654=) http://identifiers.org/clinvar/194599 ^@ NM_000426.3(LAMA2):c.2289G>A (p.Ala763=) http://identifiers.org/clinvar/194600 ^@ NM_000440.2(PDE6A):c.2027+5G>A http://identifiers.org/clinvar/194601 ^@ NM_000441.1(SLC26A4):c.1730T>C (p.Val577Ala) http://identifiers.org/clinvar/194602 ^@ NM_000445.4(PLEC):c.1852C>T (p.Arg618Cys) http://identifiers.org/clinvar/194603 ^@ NM_000466.2(PEX1):c.2584-11_2584-10delTT http://identifiers.org/clinvar/194604 ^@ NM_000466.2(PEX1):c.2645C>T (p.Pro882Leu) http://identifiers.org/clinvar/194605 ^@ NM_000541.4(SAG):c.1132G>A (p.Val378Ile) http://identifiers.org/clinvar/194606 ^@ NM_000541.4(SAG):c.1207G>A (p.Val403Ile) http://identifiers.org/clinvar/194607 ^@ NM_000601.5(HGF):c.1832G>C (p.Ser611Thr) http://identifiers.org/clinvar/194608 ^@ NM_000601.5(HGF):c.1814C>T (p.Thr605Ile) http://identifiers.org/clinvar/194609 ^@ NM_000719.6(CACNA1C):c.2251A>G (p.Ile751Val) http://identifiers.org/clinvar/194610 ^@ NM_000875.4(IGF1R):c.3129G>A (p.Glu1043=) http://identifiers.org/clinvar/194611 ^@ NM_000883.3(IMPDH1):c.1714G>C (p.Glu572Gln) http://identifiers.org/clinvar/194612 ^@ NM_001083961.1(WDR62):c.2016C>T (p.Asp672=) http://identifiers.org/clinvar/194614 ^@ NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) http://identifiers.org/clinvar/194615 ^@ NM_001142800.1(EYS):c.2500G>A (p.Val834Ile) http://identifiers.org/clinvar/194616 ^@ NM_006920.4(SCN1A):c.3143A>T (p.Asp1048Val) http://identifiers.org/clinvar/194617 ^@ NM_001165963.1(SCN1A):c.3060C>A (p.His1020Gln) http://identifiers.org/clinvar/194618 ^@ NM_001277115.1(DNAH11):c.3237T>C (p.Leu1079=) http://identifiers.org/clinvar/194619 ^@ NM_001369.2(DNAH5):c.2355C>T (p.Leu785=) http://identifiers.org/clinvar/194620 ^@ NM_001793.5(CDH3):c.2475C>T (p.Gly825=) http://identifiers.org/clinvar/194621 ^@ NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) http://identifiers.org/clinvar/194622 ^@ NM_001849.3(COL6A2):c.1333-10C>G http://identifiers.org/clinvar/194623 ^@ NM_002025.3(AFF2):c.3270C>T (p.Phe1090=) http://identifiers.org/clinvar/194624 ^@ NM_002310.5(LIFR):c.2302A>G (p.Arg768Gly) http://identifiers.org/clinvar/194625 ^@ NM_002420.5(TRPM1):c.1972G>A (p.Glu658Lys) http://identifiers.org/clinvar/194626 ^@ NM_002863.4(PYGL):c.1947C>A (p.Tyr649Ter) http://identifiers.org/clinvar/194627 ^@ NM_002863.4(PYGL):c.1828-2delA http://identifiers.org/clinvar/194628 ^@ NM_003035.2(STIL):c.2903A>G (p.His968Arg) http://identifiers.org/clinvar/194629 ^@ NM_003482.3(KMT2D):c.4485C>G (p.Tyr1495Ter) http://identifiers.org/clinvar/194630 ^@ NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) http://identifiers.org/clinvar/194631 ^@ NM_003611.2(OFD1):c.2052C>G (p.Ser684=) http://identifiers.org/clinvar/194632 ^@ NM_003611.2(OFD1):c.2168C>T (p.Ser723Leu) http://identifiers.org/clinvar/194633 ^@ NM_003640.4(IKBKAP):c.1814A>G (p.Tyr605Cys) http://identifiers.org/clinvar/194634 ^@ NM_003688.3(CASK):c.1504-6dupT http://identifiers.org/clinvar/194635 ^@ NM_003742.2(ABCB11):c.1900G>A (p.Ala634Thr) http://identifiers.org/clinvar/194636 ^@ NM_004006.2(DMD):c.1912C>T (p.Gln638Ter) http://identifiers.org/clinvar/194637 ^@ NM_004380.2(CREBBP):c.3158C>T (p.Pro1053Leu) http://identifiers.org/clinvar/194638 ^@ NM_004380.2(CREBBP):c.3089C>T (p.Ser1030Phe) http://identifiers.org/clinvar/194639 ^@ NM_005219.4(DIAPH1):c.1736G>A (p.Arg579His) http://identifiers.org/clinvar/194641 ^@ NM_005529.6(HSPG2):c.2074G>A (p.Val692Met) http://identifiers.org/clinvar/194642 ^@ NM_006204.3(PDE6C):c.1967G>A (p.Arg656Gln) http://identifiers.org/clinvar/194643 ^@ NM_001042537.1(SLC9A6):c.*5_*8delACTAinsTT http://identifiers.org/clinvar/194644 ^@ NM_006946.2(SPTBN2):c.3282G>A (p.Pro1094=) http://identifiers.org/clinvar/194645 ^@ NM_007126.3(VCP):c.2214A>G (p.Glu738=) http://identifiers.org/clinvar/194646 ^@ NM_007214.4(SEC63):c.1605dupA (p.Pro536Thrfs) http://identifiers.org/clinvar/194647 ^@ NM_012301.3(MAGI2):c.2830T>C (p.Ser944Pro) http://identifiers.org/clinvar/194648 ^@ NM_013382.5(POMT2):c.1701C>G (p.Pro567=) http://identifiers.org/clinvar/194649 ^@ NM_014140.3(SMARCAL1):c.2449C>A (p.Arg817Ser) http://identifiers.org/clinvar/194650 ^@ NM_014141.5(CNTNAP2):c.2424C>T (p.Ser808=) http://identifiers.org/clinvar/194651 ^@ NM_014141.5(CNTNAP2):c.2460C>A (p.Ser820Arg) http://identifiers.org/clinvar/194652 ^@ NM_014425.4(INVS):c.3080G>A (p.Arg1027His) http://identifiers.org/clinvar/194653 ^@ NM_148898.3(FOXP2):c.2078+10G>C http://identifiers.org/clinvar/194654 ^@ NM_014639.3(TTC37):c.1427C>G (p.Thr476Arg) http://identifiers.org/clinvar/194655 ^@ NM_014728.3(FRMPD4):c.3738C>T (p.His1246=) http://identifiers.org/clinvar/194656 ^@ NM_014728.3(FRMPD4):c.2829C>T (p.Tyr943=) http://identifiers.org/clinvar/194657 ^@ NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) http://identifiers.org/clinvar/194658 ^@ NM_014989.5(RIMS1):c.2699-8T>C http://identifiers.org/clinvar/194659 ^@ NM_015102.4(NPHP4):c.1966G>A (p.Asp656Asn) http://identifiers.org/clinvar/194660 ^@ NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) http://identifiers.org/clinvar/194661 ^@ NM_015192.3(PLCB1):c.1678+10C>T http://identifiers.org/clinvar/194662 ^@ NM_015560.2(OPA1):c.1560_1562delAGA (p.Glu521del) http://identifiers.org/clinvar/194663 ^@ NM_016616.4(NME8):c.1405A>C (p.Ile469Leu) http://identifiers.org/clinvar/194664 ^@ NM_001134831.1(AHI1):c.2282C>T (p.Ser761Leu) http://identifiers.org/clinvar/194665 ^@ NM_017780.3(CHD7):c.3973T>C (p.Tyr1325His) http://identifiers.org/clinvar/194666 ^@ NM_213655.4(WNK1):c.4338G>A (p.Glu1446=) http://identifiers.org/clinvar/194667 ^@ NM_018979.3(WNK1):c.3578G>A (p.Ser1193Asn) http://identifiers.org/clinvar/194668 ^@ NM_020366.3(RPGRIP1):c.2568T>C (p.Leu856=) http://identifiers.org/clinvar/194669 ^@ NM_020631.4(PLEKHG5):c.1729G>A (p.Ala577Thr) http://identifiers.org/clinvar/194670 ^@ NM_020800.2(IFT80):c.1825C>T (p.Arg609Cys) http://identifiers.org/clinvar/194671 ^@ NM_022124.5(CDH23):c.1595C>T (p.Thr532Met) http://identifiers.org/clinvar/194672 ^@ NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) http://identifiers.org/clinvar/194673 ^@ NM_023073.3(C5orf42):c.2848T>G (p.Phe950Val) http://identifiers.org/clinvar/194675 ^@ NM_024753.4(TTC21B):c.2168G>A (p.Arg723Gln) http://identifiers.org/clinvar/194676 ^@ NM_025137.3(SPG11):c.3037A>G (p.Lys1013Glu) http://identifiers.org/clinvar/194677 ^@ NM_031407.6(HUWE1):c.1348C>T (p.His450Tyr) http://identifiers.org/clinvar/194678 ^@ NM_001171971.2(CDHR1):c.1877C>T (p.Thr626Met) http://identifiers.org/clinvar/194679 ^@ NM_001267550.2(TTN):c.2589T>C (p.Thr863=) http://identifiers.org/clinvar/194680 ^@ NM_144966.5(FREM1):c.2587C>G (p.Leu863Val) http://identifiers.org/clinvar/194681 ^@ NM_153240.4(NPHP3):c.2172-4A>G http://identifiers.org/clinvar/194682 ^@ NM_153717.2(EVC):c.2322G>C (p.Ala774=) http://identifiers.org/clinvar/194683 ^@ NM_153717.2(EVC):c.2305-6C>T http://identifiers.org/clinvar/194684 ^@ NM_198428.2(BBS9):c.1646C>T (p.Thr549Ile) http://identifiers.org/clinvar/194685 ^@ NM_198428.2(BBS9):c.1648A>G (p.Ile550Val) http://identifiers.org/clinvar/194686 ^@ NM_198525.2(KIF7):c.3211C>T (p.Arg1071Trp) http://identifiers.org/clinvar/194687 ^@ NM_213599.2(ANO5):c.1800+5G>A http://identifiers.org/clinvar/194688 ^@ NM_213599.2(ANO5):c.1709C>G (p.Ser570Ter) http://identifiers.org/clinvar/194689 ^@ NM_001267550.2(TTN):c.39853A>G (p.Lys13285Glu) http://identifiers.org/clinvar/194690 ^@ NM_000057.3(BLM):c.3211G>T (p.Asp1071Tyr) http://identifiers.org/clinvar/194691 ^@ NM_000070.2(CAPN3):c.1981delA (p.Ile661Terfs) http://identifiers.org/clinvar/194692 ^@ NM_000071.2(CBS):c.*10C>A http://identifiers.org/clinvar/194693 ^@ NM_000089.3(COL1A2):c.880G>A (p.Val294Ile) http://identifiers.org/clinvar/194694 ^@ NM_000090.3(COL3A1):c.1151G>T (p.Gly384Val) http://identifiers.org/clinvar/194695 ^@ NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) http://identifiers.org/clinvar/194696 ^@ NM_000124.3(ERCC6):c.3010C>T (p.Leu1004=) http://identifiers.org/clinvar/194697 ^@ NM_000152.4(GAA):c.2415G>A (p.Val805=) http://identifiers.org/clinvar/194698 ^@ NM_000153.3(GALC):c.1912G>A (p.Gly638Ser) http://identifiers.org/clinvar/194699 ^@ NM_000180.3(GUCY2D):c.3098C>T (p.Ser1033Leu) http://identifiers.org/clinvar/194700 ^@ NM_000195.4(HPS1):c.1698G>A (p.Ser566=) http://identifiers.org/clinvar/194701 ^@ NM_000208.3(INSR):c.3255C>T (p.His1085=) http://identifiers.org/clinvar/194702 ^@ NM_000208.3(INSR):c.3193C>G (p.Leu1065Val) http://identifiers.org/clinvar/194703 ^@ NM_000260.3(MYO7A):c.2025C>T (p.Arg675=) http://identifiers.org/clinvar/194704 ^@ NM_000276.3(OCRL):c.1714-1G>A http://identifiers.org/clinvar/194706 ^@ NM_000414.3(HSD17B4):c.1471G>A (p.Ala491Thr) http://identifiers.org/clinvar/194707 ^@ NM_000426.3(LAMA2):c.2382C>T (p.Gly794=) http://identifiers.org/clinvar/194708 ^@ NM_018849.2(ABCB4):c.2211+1G>A http://identifiers.org/clinvar/194709 ^@ NM_018849.2(ABCB4):c.2177C>T (p.Pro726Leu) http://identifiers.org/clinvar/194710 ^@ NM_000445.4(PLEC):c.1999G>C (p.Val667Leu) http://identifiers.org/clinvar/194711 ^@ NM_000489.4(ATRX):c.4720T>C (p.Cys1574Arg) http://identifiers.org/clinvar/194712 ^@ NM_000492.3(CFTR):c.2736G>A (p.Ser912=) http://identifiers.org/clinvar/194713 ^@ NM_000702.3(ATP1A2):c.2412C>T (p.Ile804=) http://identifiers.org/clinvar/194714 ^@ NM_000883.3(IMPDH1):c.1789C>T (p.Arg597Trp) http://identifiers.org/clinvar/194715 ^@ NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys) http://identifiers.org/clinvar/194716 ^@ NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) http://identifiers.org/clinvar/194717 ^@ NM_001083961.1(WDR62):c.2040T>C (p.His680=) http://identifiers.org/clinvar/194718 ^@ NM_001083961.1(WDR62):c.2112G>C (p.Ser704=) http://identifiers.org/clinvar/194719 ^@ NM_001277313.1(FMN1):c.*1G>A http://identifiers.org/clinvar/194720 ^@ NM_001127221.1(CACNA1A):c.2133C>G (p.Ala711=) http://identifiers.org/clinvar/194721 ^@ NM_001165963.1(SCN1A):c.3481G>A (p.Ala1161Thr) http://identifiers.org/clinvar/252803 ^@ NM_182914.2(SYNE2):c.15792G>C (p.Gln5264His) http://identifiers.org/clinvar/252804 ^@ NM_182914.2(SYNE2):c.19820C>T (p.Ser6607Phe) http://identifiers.org/clinvar/252634 ^@ NM_004667.5(HERC2):c.7361C>T (p.Ser2454Leu) http://identifiers.org/clinvar/252560 ^@ NM_001190455.2(CHRNA7):c.176A>G (p.Tyr59Cys) http://identifiers.org/clinvar/252711 ^@ NM_017553.2(INO80):c.97C>T (p.His33Tyr) http://identifiers.org/clinvar/252741 ^@ NM_024611.5(ICE2):c.416A>G (p.Lys139Arg) http://identifiers.org/clinvar/252654 ^@ NM_005902.3(SMAD3):c.636G>A (p.Met212Ile) http://identifiers.org/clinvar/252568 ^@ NM_001206796.2(PKM):c.1015A>G (p.Ile339Val) http://identifiers.org/clinvar/252526 ^@ NM_001080532.1(TMC3):c.3134C>A (p.Ser1045Ter) http://identifiers.org/clinvar/252807 ^@ NM_198525.2(KIF7):c.2501A>G (p.Gln834Arg) http://identifiers.org/clinvar/252723 ^@ NM_018668.4(VPS33B):c.481T>C (p.Phe161Leu) http://identifiers.org/clinvar/252578 ^@ NM_001271.3(CHD2):c.5033G>A (p.Arg1678Gln) http://identifiers.org/clinvar/252514 ^@ NM_001040113.1(MYH11):c.1934C>T (p.Ser645Leu) http://identifiers.org/clinvar/252513 ^@ NM_001040113.1(MYH11):c.-17G>C http://identifiers.org/clinvar/252492 ^@ NM_000548.4(TSC2):c.1325T>G (p.Ile442Ser) http://identifiers.org/clinvar/252785 ^@ NM_144672.3(OTOA):c.755G>A (p.Trp252Ter) http://identifiers.org/clinvar/252799 ^@ NM_181079.4(IL21R):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/252457 ^@ NM_000034.3(ALDOA):c.848A>T (p.Asn283Ile) http://identifiers.org/clinvar/252756 ^@ NM_032444.2(SLX4):c.4739+5G>A http://identifiers.org/clinvar/252650 ^@ NM_005223.3(DNASE1):c.619C>T (p.Arg207Cys) http://identifiers.org/clinvar/252628 ^@ NM_004380.2(CREBBP):c.5615T>C (p.Met1872Thr) http://identifiers.org/clinvar/252676 ^@ NM_012213.2(MLYCD):c.206C>T (p.Ala69Val) http://identifiers.org/clinvar/252684 ^@ NM_014615.3(GSE1):c.1131_1132insGAGAAGGAGCGCGAGCGC (p.Glu384_Leu385insLysGluArgGluArgGlu) http://identifiers.org/clinvar/252465 ^@ NM_000101.3(CYBA):c.179A>C (p.Lys60Thr) http://identifiers.org/clinvar/252540 ^@ NM_001142864.3(PIEZO1):c.5743C>A (p.Arg1915Ser) http://identifiers.org/clinvar/252539 ^@ NM_001142864.3(PIEZO1):c.1270T>C (p.Tyr424His) http://identifiers.org/clinvar/252567 ^@ NM_001201407.1(ZNF778):c.275A>G (p.Tyr92Cys) http://identifiers.org/clinvar/252536 ^@ NM_001134407.2(GRIN2A):c.3178G>A (p.Asp1060Asn) http://identifiers.org/clinvar/252810 ^@ NM_001304438.1(TMEM132E):c.1504G>A (p.Val502Met) http://identifiers.org/clinvar/252606 ^@ NM_002472.2(MYH8):c.2147T>A (p.Ile716Asn) http://identifiers.org/clinvar/252605 ^@ NM_002470.3(MYH3):c.2668C>G (p.Leu890Val) http://identifiers.org/clinvar/252777 ^@ NM_080669.5(SLC46A1):c.623A>T (p.Tyr208Phe) http://identifiers.org/clinvar/252783 ^@ NM_139285.3(GAS2L2):c.1621G>A (p.Val541Ile) http://identifiers.org/clinvar/252495 ^@ NM_000723.4(CACNB1):c.649-4C>A http://identifiers.org/clinvar/252516 ^@ NM_001067.3(TOP2A):c.3581C>G (p.Pro1194Arg) http://identifiers.org/clinvar/252678 ^@ NM_012448.3(STAT5B):c.799C>G (p.Pro267Ala) http://identifiers.org/clinvar/252528 ^@ NM_001085430.2(C17orf67):c.109C>T (p.Arg37Ter) http://identifiers.org/clinvar/252646 ^@ NM_005121.2(MED13):c.4642A>G (p.Ser1548Gly) http://identifiers.org/clinvar/252477 ^@ NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) http://identifiers.org/clinvar/252724 ^@ NM_018714.2(COG1):c.1712G>A (p.Arg571Gln) http://identifiers.org/clinvar/252497 ^@ NM_000747.2(CHRNB1):c.166G>A (p.Val56Ile) http://identifiers.org/clinvar/252569 ^@ NM_001206987.2(METTL23):c.295G>A (p.Asp99Asn) http://identifiers.org/clinvar/252521 ^@ NM_001080424.2(KDM6B):c.1556T>C (p.Leu519Pro) http://identifiers.org/clinvar/252522 ^@ NM_001080424.2(KDM6B):c.2191T>G (p.Ser731Ala) http://identifiers.org/clinvar/252527 ^@ NM_001082575.2(RBFOX3):c.14A>C (p.Tyr5Ser) http://identifiers.org/clinvar/252467 ^@ NM_000152.4(GAA):c.2417C>T (p.Thr806Met) http://identifiers.org/clinvar/252475 ^@ NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) http://identifiers.org/clinvar/252695 ^@ NM_015295.2(SMCHD1):c.263A>G (p.Asp88Gly) http://identifiers.org/clinvar/252591 ^@ NM_001650.5(AQP4):c.955G>A (p.Val319Ile) http://identifiers.org/clinvar/252639 ^@ NM_004949.4(DSC2):c.1069C>T (p.Arg357Cys) http://identifiers.org/clinvar/252596 ^@ NM_001943.4(DSG2):c.961T>A (p.Phe321Ile) http://identifiers.org/clinvar/252791 ^@ NM_170695.3(TGIF1):c.90G>A (p.Trp30Ter) http://identifiers.org/clinvar/252570 ^@ NM_001242875.2(ELP2):c.2539A>G (p.Ile847Val) http://identifiers.org/clinvar/252730 ^@ NM_020964.2(EPG5):c.3686C>A (p.Pro1229His) http://identifiers.org/clinvar/252595 ^@ NM_001914.3(CYB5A):c.13T>G (p.Ser5Ala) http://identifiers.org/clinvar/252621 ^@ NM_003331.4(TYK2):c.2371_2376delCTAAGC (p.Leu791_Ser792del) http://identifiers.org/clinvar/252620 ^@ NM_003331.4(TYK2):c.2003C>T (p.Thr668Met) http://identifiers.org/clinvar/252738 ^@ NM_023035.2(CACNA1A):c.6982_6983insCAG (p.Gln2328delinsProGlu) http://identifiers.org/clinvar/252616 ^@ NM_003200.3(TCF3):c.1342C>G (p.Pro448Ala) http://identifiers.org/clinvar/252534 ^@ NM_001130065.1(MYO9B):c.4861C>T (p.Arg1621Trp) http://identifiers.org/clinvar/252471 ^@ NM_000215.3(JAK3):c.187A>G (p.Ile63Val) http://identifiers.org/clinvar/252622 ^@ NM_003721.3(RFXANK):c.337+4C>T http://identifiers.org/clinvar/252776 ^@ NM_080600.2(MAG):c.47-4G>T http://identifiers.org/clinvar/252781 ^@ NM_133261.2(GIPC3):c.773G>A (p.Arg258Gln) http://identifiers.org/clinvar/252489 ^@ NM_000540.2(RYR1):c.6052G>C (p.Glu2018Gln) http://identifiers.org/clinvar/252488 ^@ NM_000540.2(RYR1):c.11321C>T (p.Ala3774Val) http://identifiers.org/clinvar/252731 ^@ NM_020971.2(SPTBN4):c.767G>A (p.Arg256Gln) http://identifiers.org/clinvar/252573 ^@ NM_001256214.1(ATP1A3):c.997G>A (p.Ala333Thr) http://identifiers.org/clinvar/252693 ^@ NM_015125.4(CIC):c.4783T>C (p.Ser1595Pro) http://identifiers.org/clinvar/252592 ^@ NM_001712.4(CEACAM1):c.44G>A (p.Trp15Ter) http://identifiers.org/clinvar/252601 ^@ NM_002250.2(KCNN4):c.1055G>A (p.Arg352His) http://identifiers.org/clinvar/252648 ^@ NM_005178.4(BCL3):c.772G>A (p.Val258Met) http://identifiers.org/clinvar/252672 ^@ NM_007059.3(KPTN):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/252559 ^@ NM_001184902.1(CARD8):c.130G>A (p.Val44Ile) http://identifiers.org/clinvar/252707 ^@ NM_016553.4(NUP62):c.337G>A (p.Gly113Ser) http://identifiers.org/clinvar/252759 ^@ NM_032836.2(FIZ1):c.884T>G (p.Leu295Arg) http://identifiers.org/clinvar/252561 ^@ NM_001194.3(HCN2):c.2156_2164delCGCCGCCGC (p.Pro719_Pro721del) http://identifiers.org/clinvar/252745 ^@ NM_024898.3(DENND1C):c.482T>C (p.Ile161Thr) http://identifiers.org/clinvar/252704 ^@ NM_015937.5(PIGT):c.367G>T (p.Val123Leu) http://identifiers.org/clinvar/252703 ^@ NM_015937.5(PIGT):c.1067G>A (p.Arg356Gln) http://identifiers.org/clinvar/252698 ^@ NM_015339.4(ADNP):c.2743G>A (p.Val915Ile) http://identifiers.org/clinvar/252708 ^@ NM_016592.3(GNAS):c.10A>G (p.Arg4Gly) http://identifiers.org/clinvar/252519 ^@ NM_001077490.2(GNAS):c.470C>T (p.Pro157Leu) http://identifiers.org/clinvar/252597 ^@ NM_001958.3(EEF1A2):c.1375_1383delCAGAAGGCG (p.Gln459_Ala461del) http://identifiers.org/clinvar/252673 ^@ NM_007098.3(CLTCL1):c.3874-4C>G http://identifiers.org/clinvar/252626 ^@ NM_004327.3(BCR):c.3316G>A (p.Asp1106Asn) http://identifiers.org/clinvar/252658 ^@ NM_006078.3(CACNG2):c.640G>A (p.Ala214Thr) http://identifiers.org/clinvar/252510 ^@ NM_001039141.2(TRIOBP):c.2582G>A (p.Arg861Gln) http://identifiers.org/clinvar/252511 ^@ NM_001039141.2(TRIOBP):c.3232C>T (p.Arg1078Cys) http://identifiers.org/clinvar/252734 ^@ NM_021096.3(CACNA1I):c.3917T>C (p.Ile1306Thr) http://identifiers.org/clinvar/252533 ^@ NM_001129819.2(CYB5R3):c.506G>A (p.Arg169His) http://identifiers.org/clinvar/252612 ^@ NM_002972.3(SBF1):c.1682G>A (p.Arg561Gln) http://identifiers.org/clinvar/252769 ^@ NM_033517.1(SHANK3):c.2908G>T (p.Ala970Ser) http://identifiers.org/clinvar/252545 ^@ NM_001152.4(SLC25A5):c.662C>G (p.Thr221Ser) http://identifiers.org/clinvar/252647 ^@ NM_005140.1(CNGA2):c.1132A>G (p.Met378Val) http://identifiers.org/clinvar/252502 ^@ NM_001001671.3(MAP3K15):c.3597_3600delAGAG (p.Arg1199Serfs) http://identifiers.org/clinvar/252671 ^@ NM_006950.3(SYN1):c.1183A>G (p.Ile395Val) http://identifiers.org/clinvar/252615 ^@ NM_003179.2(SYP):c.868G>T (p.Gly290Trp) http://identifiers.org/clinvar/252649 ^@ NM_005183.3(CACNA1F):c.4723G>T (p.Glu1575Ter) http://identifiers.org/clinvar/252542 ^@ NM_001145073.2(USP27X):c.161A>C (p.Lys54Thr) http://identifiers.org/clinvar/252735 ^@ NM_022117.3(TSPYL2):c.78_79insCCG (p.Pro33_Leu34insPro) http://identifiers.org/clinvar/252625 ^@ NM_004187.3(KDM5C):c.4303C>T (p.Arg1435Cys) http://identifiers.org/clinvar/252752 ^@ NM_031407.6(HUWE1):c.5642A>G (p.Asn1881Ser) http://identifiers.org/clinvar/252796 ^@ NM_174912.3(FAAH2):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/252557 ^@ NM_001178032.2(ZC4H2):c.539G>T (p.Cys180Phe) http://identifiers.org/clinvar/252705 ^@ NM_016379.3(VCX3A):c.478G>A (p.Val160Met) http://identifiers.org/clinvar/252553 ^@ NM_001171162.1(ZMYM3):c.3844C>T (p.Arg1282Cys) http://identifiers.org/clinvar/252786 ^@ NM_144969.2(ZDHHC15):c.831G>C (p.Lys277Asn) http://identifiers.org/clinvar/252790 ^@ NM_153252.4(BRWD3):c.2325+5G>A http://identifiers.org/clinvar/252455 ^@ NC_012920.1:m.15884G>C http://identifiers.org/clinvar/252456 ^@ NC_012920.1:m.3505A>G http://identifiers.org/clinvar/252811 ^@ NM_000059.3(BRCA2):c.-24A>G http://identifiers.org/clinvar/252812 ^@ NM_000059.3(BRCA2):c.1667delA (p.Asn556Ilefs) http://identifiers.org/clinvar/252813 ^@ NM_000059.3(BRCA2):c.1837C>G (p.Leu613Val) http://identifiers.org/clinvar/252814 ^@ NM_000059.3(BRCA2):c.2020G>A (p.Glu674Lys) http://identifiers.org/clinvar/252815 ^@ NM_000059.3(BRCA2):c.2034_2038delTAATA (p.Asn679Serfs) http://identifiers.org/clinvar/252816 ^@ NM_000059.3(BRCA2):c.2125_2126delCT (p.Leu709Valfs) http://identifiers.org/clinvar/252817 ^@ NM_000059.3(BRCA2):c.2244_2245delCA (p.Tyr748Terfs) http://identifiers.org/clinvar/252818 ^@ NM_000059.3(BRCA2):c.2256C>A (p.Asp752Glu) http://identifiers.org/clinvar/252819 ^@ NM_000059.3(BRCA2):c.2282A>C (p.Tyr761Ser) http://identifiers.org/clinvar/252820 ^@ NM_000059.3(BRCA2):c.2323T>A (p.Ser775Thr) http://identifiers.org/clinvar/252821 ^@ NM_000059.3(BRCA2):c.2411A>C (p.Glu804Ala) http://identifiers.org/clinvar/252822 ^@ NM_000059.3(BRCA2):c.2554A>C (p.Asn852His) http://identifiers.org/clinvar/252823 ^@ NM_000059.3(BRCA2):c.2606C>G (p.Ser869Ter) http://identifiers.org/clinvar/252824 ^@ NM_000059.3(BRCA2):c.2774C>G (p.Ser925Cys) http://identifiers.org/clinvar/252825 ^@ NM_000059.3(BRCA2):c.2795A>T (p.Asp932Val) http://identifiers.org/clinvar/252826 ^@ NM_000059.3(BRCA2):c.3197A>G (p.Asn1066Ser) http://identifiers.org/clinvar/252827 ^@ NM_000059.3(BRCA2):c.3330A>C (p.Glu1110Asp) http://identifiers.org/clinvar/252828 ^@ NM_000059.3(BRCA2):c.3344C>G (p.Ser1115Cys) http://identifiers.org/clinvar/252829 ^@ NM_000059.3(BRCA2):c.3964A>G (p.Asn1322Asp) http://identifiers.org/clinvar/252830 ^@ NM_000059.3(BRCA2):c.4228dupA (p.Thr1410Asnfs) http://identifiers.org/clinvar/252831 ^@ NM_000059.3(BRCA2):c.4568G>T (p.Gly1523Val) http://identifiers.org/clinvar/252832 ^@ NM_000059.3(BRCA2):c.4590A>T (p.Lys1530Asn) http://identifiers.org/clinvar/252833 ^@ NM_000059.3(BRCA2):c.4722dupA (p.Asp1575Argfs) http://identifiers.org/clinvar/252834 ^@ NM_000059.3(BRCA2):c.4731delA (p.Glu1577Aspfs) http://identifiers.org/clinvar/252835 ^@ NM_000059.3(BRCA2):c.4885A>G (p.Thr1629Ala) http://identifiers.org/clinvar/252836 ^@ NM_000059.3(BRCA2):c.4936_4938delGAA (p.Glu1646del) http://identifiers.org/clinvar/252837 ^@ NM_000059.3(BRCA2):c.5241delC (p.Asn1747Lysfs) http://identifiers.org/clinvar/252838 ^@ NM_000059.3(BRCA2):c.5293A>T (p.Lys1765Ter) http://identifiers.org/clinvar/252839 ^@ NM_000059.3(BRCA2):c.5483A>G (p.Lys1828Arg) http://identifiers.org/clinvar/252840 ^@ NM_000059.3(BRCA2):c.5590_5593delGACA (p.Asp1864Tyrfs) http://identifiers.org/clinvar/252841 ^@ NM_000059.3(BRCA2):c.6062A>T (p.His2021Leu) http://identifiers.org/clinvar/252842 ^@ NM_000059.3(BRCA2):c.6732A>C (p.Lys2244Asn) http://identifiers.org/clinvar/252843 ^@ NG_012772.3:g.20474_20475ins3 http://identifiers.org/clinvar/252844 ^@ NM_000059.3(BRCA2):c.7349A>T (p.Asn2450Ile) http://identifiers.org/clinvar/252845 ^@ NM_000059.3(BRCA2):c.734G>C (p.Arg245Thr) http://identifiers.org/clinvar/252846 ^@ NM_000059.3(BRCA2):c.7654dupA (p.Ile2552Asnfs) http://identifiers.org/clinvar/252847 ^@ NM_000059.3(BRCA2):c.7660A>G (p.Ser2554Gly) http://identifiers.org/clinvar/252848 ^@ NM_000059.3(BRCA2):c.7806-6delG http://identifiers.org/clinvar/252849 ^@ NM_000059.3(BRCA2):c.7883T>C (p.Ile2628Thr) http://identifiers.org/clinvar/252850 ^@ NM_000059.3(BRCA2):c.7905A>T (p.Glu2635Asp) http://identifiers.org/clinvar/252851 ^@ NM_000059.3(BRCA2):c.793+7C>T http://identifiers.org/clinvar/252852 ^@ NM_000059.3(BRCA2):c.7977-14G>C http://identifiers.org/clinvar/252853 ^@ NM_000059.3(BRCA2):c.8180C>G (p.Ala2727Gly) http://identifiers.org/clinvar/252854 ^@ NM_000059.3(BRCA2):c.8312delC (p.Pro2771Glnfs) http://identifiers.org/clinvar/252855 ^@ NM_000059.3(BRCA2):c.9073A>G (p.Ile3025Val) http://identifiers.org/clinvar/252856 ^@ NM_000059.3(BRCA2):c.9111A>T (p.Gln3037His) http://identifiers.org/clinvar/252857 ^@ NM_000059.3(BRCA2):c.9118-4G>A http://identifiers.org/clinvar/252858 ^@ NM_000059.3(BRCA2):c.9241G>T (p.Val3081Phe) http://identifiers.org/clinvar/252859 ^@ NM_000059.3(BRCA2):c.9285C>A (p.Asp3095Glu) http://identifiers.org/clinvar/252860 ^@ NM_000059.3(BRCA2):c.966A>C (p.Lys322Asn) http://identifiers.org/clinvar/252861 ^@ NM_000059.3(BRCA2):c.9814G>C (p.Asp3272His) http://identifiers.org/clinvar/252862 ^@ NM_007294.3(BRCA1):c.-19-15T>C http://identifiers.org/clinvar/252863 ^@ NM_007294.3(BRCA1):c.1407_1408delAA (p.Ser470Profs) http://identifiers.org/clinvar/252864 ^@ NM_007294.3(BRCA1):c.142A>G (p.Met48Val) http://identifiers.org/clinvar/252865 ^@ NM_007294.3(BRCA1):c.1460T>C (p.Val487Ala) http://identifiers.org/clinvar/252866 ^@ NM_007294.3(BRCA1):c.1514A>T (p.Lys505Ile) http://identifiers.org/clinvar/252867 ^@ NM_007294.3(BRCA1):c.1575dupT (p.Gln526Serfs) http://identifiers.org/clinvar/252868 ^@ NM_007294.3(BRCA1):c.1759_1762delATAA (p.Ile587Alafs) http://identifiers.org/clinvar/252869 ^@ NM_007294.3(BRCA1):c.1949_1950insCA (p.Lys652Argfs) http://identifiers.org/clinvar/252870 ^@ NM_007294.3(BRCA1):c.2719delG (p.Glu907Lysfs) http://identifiers.org/clinvar/252871 ^@ NM_007294.3(BRCA1):c.3048T>G (p.Asn1016Lys) http://identifiers.org/clinvar/252872 ^@ NM_007294.3(BRCA1):c.3178G>C (p.Glu1060Gln) http://identifiers.org/clinvar/252873 ^@ NM_007294.3(BRCA1):c.3257delT (p.Leu1086Terfs) http://identifiers.org/clinvar/252874 ^@ NM_007294.3(BRCA1):c.3564G>C (p.Arg1188Ser) http://identifiers.org/clinvar/252875 ^@ NM_007294.3(BRCA1):c.3720G>C (p.Gln1240His) http://identifiers.org/clinvar/252876 ^@ NM_007294.3(BRCA1):c.403A>T (p.Lys135Ter) http://identifiers.org/clinvar/252877 ^@ NM_007294.3(BRCA1):c.4097-18C>A http://identifiers.org/clinvar/252878 ^@ NM_007294.3(BRCA1):c.4185+8G>C http://identifiers.org/clinvar/252879 ^@ NM_007294.3(BRCA1):c.4186-18C>T http://identifiers.org/clinvar/252880 ^@ NM_007294.3(BRCA1):c.4273C>T (p.Pro1425Ser) http://identifiers.org/clinvar/252881 ^@ NG_005905.2:g.141479_141480ins5 http://identifiers.org/clinvar/252882 ^@ NM_007294.3(BRCA1):c.4888_4889delGA (p.Glu1630Lysfs) http://identifiers.org/clinvar/252883 ^@ NM_007294.3(BRCA1):c.5050A>C (p.Thr1684Pro) http://identifiers.org/clinvar/252884 ^@ NM_007294.3(BRCA1):c.5107T>G (p.Tyr1703Asp) http://identifiers.org/clinvar/252885 ^@ NM_007294.3(BRCA1):c.5277+4A>G http://identifiers.org/clinvar/252886 ^@ NM_007294.3(BRCA1):c.5390C>T (p.Ser1797Leu) http://identifiers.org/clinvar/252887 ^@ NM_007294.3(BRCA1):c.5406A>C (p.Thr1802=) http://identifiers.org/clinvar/252888 ^@ NM_007294.3(BRCA1):c.617A>C (p.Gln206Pro) http://identifiers.org/clinvar/252889 ^@ NM_007294.3(BRCA1):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/252890 ^@ NM_007294.3(BRCA1):c.77T>A (p.Ile26Asn) http://identifiers.org/clinvar/252891 ^@ NM_007294.3(BRCA1):c.827C>A (p.Thr276Lys) http://identifiers.org/clinvar/252892 ^@ NM_007294.3(BRCA1):c.864_866delCAG (p.Ser289del) http://identifiers.org/clinvar/252893 ^@ NM_007294.3(BRCA1):c.925A>G (p.Lys309Glu) http://identifiers.org/clinvar/252894 ^@ NP_000050.2(BRCA2):p.Lys322Asn http://identifiers.org/clinvar/252895 ^@ NP_000050.2(BRCA2):p.Phe1372Leu http://identifiers.org/clinvar/252896 ^@ NP_009225.1(BRCA1):p.Ser864Ter http://identifiers.org/clinvar/252897 ^@ NP_009225.1(BRCA1):p.Ser955Ter http://identifiers.org/clinvar/252899 ^@ NM_001127500.2(MET):c.1336A>G (p.Ile446Val) http://identifiers.org/clinvar/252900 ^@ NM_001127500.2(MET):c.1528-?_*2262dup4962 http://identifiers.org/clinvar/252901 ^@ NM_004168.3(SDHA):c.57C>G (p.Ala19=) http://identifiers.org/clinvar/252904 ^@ NM_004168.3(SDHA):c.1002G>A (p.Ala334=) http://identifiers.org/clinvar/252905 ^@ NM_004168.3(SDHA):c.1623G>A (p.Lys541=) http://identifiers.org/clinvar/252906 ^@ NM_004168.3(SDHA):c.155C>T (p.Ser52Phe) http://identifiers.org/clinvar/252907 ^@ NM_004168.3(SDHA):c.1974G>C (p.Pro658=) http://identifiers.org/clinvar/252908 ^@ NM_004168.3(SDHA):c.1919A>G (p.Glu640Gly) http://identifiers.org/clinvar/252909 ^@ NM_004168.3(SDHA):c.549C>T (p.Gly183=) http://identifiers.org/clinvar/252910 ^@ NM_004168.3(SDHA):c.600A>G (p.Leu200=) http://identifiers.org/clinvar/252911 ^@ NM_004168.3(SDHA):c.918C>G (p.Leu306=) http://identifiers.org/clinvar/252912 ^@ NM_004168.3(SDHA):c.991G>A (p.Ala331Thr) http://identifiers.org/clinvar/252913 ^@ NM_000053.3(ATP7B):c.-441_-427del15 http://identifiers.org/clinvar/252919 ^@ NM_014251.2(SLC25A13):c.1958A>G (p.Lys653Arg) http://identifiers.org/clinvar/252921 ^@ NM_014251.2(SLC25A13):c.1505C>T (p.Pro502Leu) http://identifiers.org/clinvar/252922 ^@ NM_014251.2(SLC25A13):c.1311C>T (p.Cys437=) http://identifiers.org/clinvar/252920 ^@ NM_014251.2(SLC25A13):c.775C>T (p.Gln259Ter) http://identifiers.org/clinvar/252923 ^@ NM_014251.2(SLC25A13):c.616-11A>G http://identifiers.org/clinvar/252924 ^@ NM_014251.2(SLC25A13):c.495delA (p.Ala166Profs) http://identifiers.org/clinvar/252925 ^@ NM_000019.3(ACAT1):c.653C>T (p.Ser218Phe) http://identifiers.org/clinvar/252926 ^@ NM_138927.2(SON):c.286C>T (p.Gln96Ter) http://identifiers.org/clinvar/252927 ^@ NM_138927.2(SON):c.3073dupA (p.Met1025Asnfs) http://identifiers.org/clinvar/252929 ^@ NM_138927.2(SON):c.5753_5756delTTAG (p.Val1918Glufs) http://identifiers.org/clinvar/252930 ^@ NM_138927.2(SON):c.6233delC (p.Pro2078Hisfs) http://identifiers.org/clinvar/252931 ^@ NM_020184.3(CNNM4):c.1682-1G>C http://identifiers.org/clinvar/252934 ^@ NM_013227.3(ACAN):c.7244A>T (p.Asp2415Val) http://identifiers.org/clinvar/252958 ^@ NM_007215.3(POLG2):c.544C>T (p.Arg182Trp) http://identifiers.org/clinvar/264661 ^@ NM_025137.3(SPG11):c.2316+5G>A http://identifiers.org/clinvar/252960 ^@ NM_000261.1(MYOC):c.823A>T (p.Lys275Ter) http://identifiers.org/clinvar/252961 ^@ NM_152419.2(HGSNAT):c.518G>A (p.Gly173Asp) http://identifiers.org/clinvar/252962 ^@ NM_005120.2(MED12):c.2444G>A (p.Arg815Gln) http://identifiers.org/clinvar/252963 ^@ NM_005120.2(MED12):c.3067A>G (p.Ile1023Val) http://identifiers.org/clinvar/252964 ^@ NM_005120.2(MED12):c.5898dupC (p.Ser1967GlnfsTer84) http://identifiers.org/clinvar/252965 ^@ NM_005120.2(MED12):c.5922G>T (p.Gln1974His) http://identifiers.org/clinvar/252966 ^@ NC_000004.11:g.(?_49450)_(8872474_?)del http://identifiers.org/clinvar/252967 ^@ NC_000008.10:g.(?_164984)_(11860845_?)dup http://identifiers.org/clinvar/252968 ^@ NC_000002.11:g.(?_111392259)_(113094793_?)del http://identifiers.org/clinvar/252969 ^@ NC_000008.10:g.(?_53436131)_(65195953_?)dup http://identifiers.org/clinvar/252970 ^@ NC_000023.10:g.(?_152147864)_(152577772_?)del http://identifiers.org/clinvar/252971 ^@ NC_000024.9:g.(?_439911)_(678395_?)dup http://identifiers.org/clinvar/252972 ^@ NC_000015.9:g.(?_22427966)_(23226254_?)del http://identifiers.org/clinvar/252973 ^@ NC_000022.10:g.(?_18844632)_(21463730_?)del http://identifiers.org/clinvar/252974 ^@ NC_000016.9:g.(?_29412503)_(30215621_?)del http://identifiers.org/clinvar/252975 ^@ NC_000002.11:g.(?_177315153)_(196375520_?)del http://identifiers.org/clinvar/252976 ^@ NC_000001.10:g.(?_82154)_(12699337_?)del http://identifiers.org/clinvar/252977 ^@ NC_000019.9:g.(?_260912)_(1163934_?)dup http://identifiers.org/clinvar/252978 ^@ NC_000002.11:g.(?_14238)_(226999_?)dup http://identifiers.org/clinvar/252979 ^@ NC_000016.9:g.(?_88165)_(1715454_?)del http://identifiers.org/clinvar/252980 ^@ NC_000004.11:g.(?_189737788)_(190963766_?)del http://identifiers.org/clinvar/252981 ^@ NC_000024.9:g.(?_9417393)_(9882301_?)dup http://identifiers.org/clinvar/252982 ^@ NC_000016.9:g.(?_21313377)_(21947230_?)del http://identifiers.org/clinvar/252983 ^@ NC_000003.11:g.(?_193944478)_(194483962_?)del http://identifiers.org/clinvar/252984 ^@ NM_152641.3(ARID2):c.1708delT (p.Cys570Valfs) http://identifiers.org/clinvar/252985 ^@ NM_000404.3(GLB1):c.1733A>G (p.Lys578Arg) http://identifiers.org/clinvar/252986 ^@ NM_005249.4(FOXG1):c.553A>T (p.Ser185Cys) http://identifiers.org/clinvar/252987 ^@ NM_024757.4(EHMT1):c.673C>T (p.Arg225Ter) http://identifiers.org/clinvar/252988 ^@ NM_021956.4(GRIK2):c.2086-16819C>T http://identifiers.org/clinvar/252989 ^@ NM_024870.3(PREX2):c.142-2489C>T http://identifiers.org/clinvar/252991 ^@ NC_000010.10:g.122608791_123684530dup1075740 http://identifiers.org/clinvar/252992 ^@ NM_007174.2(CIT):c.1111+1G>A http://identifiers.org/clinvar/252994 ^@ NM_007174.2(CIT):c.473C>G (p.Pro158Arg) http://identifiers.org/clinvar/252993 ^@ NM_007174.2(CIT):c.412C>T (p.Gln138Ter) http://identifiers.org/clinvar/252997 ^@ NM_015215.3(CAMTA1):c.154T>A (p.Phe52Ile) http://identifiers.org/clinvar/253000 ^@ NM_001904.3(CTNNB1):c.268C>T (p.Arg90Ter) http://identifiers.org/clinvar/253001 ^@ NM_004415.3(DSP):c.4003C>T (p.Gln1335Ter) http://identifiers.org/clinvar/252999 ^@ NM_024529.4(CDC73):c.8_10delACGinsCT (p.Asp3Alafs) http://identifiers.org/clinvar/252998 ^@ NM_024529.4(CDC73):c.13_16delCTTA (p.Leu5Alafs) http://identifiers.org/clinvar/253004 ^@ 7p13 deletion (77.6 kb) http://identifiers.org/clinvar/253007 ^@ NM_005689.2(ABCB6):c.1656-1G>A http://identifiers.org/clinvar/253006 ^@ NM_005689.2(ABCB6):c.1118_1124delCGGATCG (p.Ala373Glyfs) http://identifiers.org/clinvar/253008 ^@ NM_004625.3(WNT7A):c.304C>T (p.Arg102Trp) http://identifiers.org/clinvar/253330 ^@ NM_020455.5(ADGRG6):c.2222T>A (p.Val741Asp) http://identifiers.org/clinvar/253010 ^@ NM_003361.3(UMOD):c.1680C>G (p.Asp560Glu) http://identifiers.org/clinvar/253011 ^@ NM_032957.4(RTEL1):c.2077C>T (p.Gln693Ter) http://identifiers.org/clinvar/253013 ^@ NM_001079858.2(ADGRG2):c.2845delT (p.Cys949Alafs) http://identifiers.org/clinvar/253014 ^@ NM_001079858.2(ADGRG2):c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) http://identifiers.org/clinvar/253015 ^@ NM_001079858.2(ADGRG2):c.1545dupT (p.Glu516Terfs) http://identifiers.org/clinvar/253021 ^@ NM_018191.3(RCBTB1):c.1202C>T (p.Ser401Leu) http://identifiers.org/clinvar/253020 ^@ NM_018191.3(RCBTB1):c.1164G>T (p.Leu388Phe) http://identifiers.org/clinvar/253019 ^@ NM_018191.3(RCBTB1):c.1151A>G (p.His384Arg) http://identifiers.org/clinvar/253018 ^@ NM_018191.3(RCBTB1):c.973C>T (p.His325Tyr) http://identifiers.org/clinvar/253017 ^@ NM_018191.3(RCBTB1):c.930G>T (p.Trp310Cys) http://identifiers.org/clinvar/253016 ^@ NM_018191.3(RCBTB1):c.919G>A (p.Val307Met) http://identifiers.org/clinvar/253022 ^@ NC_000022.10:g.27069493_29046492del http://identifiers.org/clinvar/253025 ^@ NM_016124.4(RHD):c.452G>A (p.Gly151Asp) http://identifiers.org/clinvar/253029 ^@ NM_001142298.1(SQSTM1):c.-47-1924C>T http://identifiers.org/clinvar/253030 ^@ NM_130811.3(SNAP25):c.200T>A (p.Ile67Asn) http://identifiers.org/clinvar/253032 ^@ NM_000059.3(BRCA2):c.464G>A (p.Arg155Lys) http://identifiers.org/clinvar/253037 ^@ NM_001151.3(SLC25A4):c.239G>A (p.Arg80His) http://identifiers.org/clinvar/253038 ^@ NM_001151.3(SLC25A4):c.703C>G (p.Arg235Gly) http://identifiers.org/clinvar/253039 ^@ NM_002461.2(MVD):c.746T>C (p.Phe249Ser) http://identifiers.org/clinvar/253040 ^@ NM_002461.2(MVD):c.875A>G (p.Asn292Ser) http://identifiers.org/clinvar/253041 ^@ NM_006556.3(PMVK):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/253042 ^@ NM_006556.3(PMVK):c.550delC (p.Leu184Terfs) http://identifiers.org/clinvar/253043 ^@ NM_001042413.1(GLIS3):c.1608C>G (p.Cys536Trp) http://identifiers.org/clinvar/253044 ^@ NM_001042413.1(GLIS3):c.1681C>T (p.His561Tyr) http://identifiers.org/clinvar/253045 ^@ NM_001042413.1(GLIS3):c.932delG (p.Gly311Alafs) http://identifiers.org/clinvar/253046 ^@ NM_020812.3(DOCK6):c.788T>A (p.Val263Asp) http://identifiers.org/clinvar/253047 ^@ NM_020812.3(DOCK6):c.5939+2T>C http://identifiers.org/clinvar/253048 ^@ NM_020812.3(DOCK6):c.3154G>A (p.Glu1052Lys) http://identifiers.org/clinvar/253049 ^@ NM_000183.2(HADHB):c.357dupT (p.Ala120Cysfs) http://identifiers.org/clinvar/253051 ^@ NM_000183.2(HADHB):c.686G>T (p.Arg229Leu) http://identifiers.org/clinvar/253052 ^@ NM_000183.2(HADHB):c.210-1G>C http://identifiers.org/clinvar/253053 ^@ NM_001399.4(EDA):c.776C>A (p.Ala259Glu) http://identifiers.org/clinvar/253054 ^@ NM_001399.4(EDA):c.865C>T (p.Arg289Cys) http://identifiers.org/clinvar/253055 ^@ NM_001399.4(EDA):c.1001G>A (p.Arg334His) http://identifiers.org/clinvar/253056 ^@ NM_001399.4(EDA):c.755A>T (p.His252Leu) http://identifiers.org/clinvar/253057 ^@ NM_003394.3(WNT10B):c.632G>A (p.Arg211Gln) http://identifiers.org/clinvar/253058 ^@ NM_003394.3(WNT10B):c.786G>A (p.Trp262Ter) http://identifiers.org/clinvar/253059 ^@ NM_001267578.1(TOR1AIP1):c.186delG (p.Glu62Aspfs) http://identifiers.org/clinvar/253060 ^@ NM_001267578.1(TOR1AIP1):c.1448A>C (p.Glu483Ala) http://identifiers.org/clinvar/253061 ^@ NM_000294.2(PHKG2):c.926G>A (p.Arg309Gln) http://identifiers.org/clinvar/253062 ^@ NM_080916.2(DGUOK):c.137A>G (p.Asn46Ser) http://identifiers.org/clinvar/253063 ^@ NM_080916.2(DGUOK):c.797T>G (p.Leu266Arg) http://identifiers.org/clinvar/253066 ^@ NM_080916.2(DGUOK):c.130G>A (p.Glu44Lys) http://identifiers.org/clinvar/253068 ^@ NM_080916.2(DGUOK):c.186C>A (p.Tyr62Ter) http://identifiers.org/clinvar/253069 ^@ NM_080916.2(DGUOK):c.444-11C>G http://identifiers.org/clinvar/253070 ^@ NM_001145357.1(SIN3A):c.803dupC (p.Leu269Thrfs) http://identifiers.org/clinvar/253071 ^@ NM_001145357.1(SIN3A):c.1010_1013delAAGA (p.Lys337Serfs) http://identifiers.org/clinvar/253072 ^@ NM_001145357.1(SIN3A):c.1759delT (p.Ser587Profs) http://identifiers.org/clinvar/253073 ^@ NM_001145357.1(SIN3A):c.2955_2956delGA (p.Glu985Aspfs) http://identifiers.org/clinvar/253074 ^@ NM_001145357.1(SIN3A):c.3310C>T (p.Arg1104Ter) http://identifiers.org/clinvar/253080 ^@ NM_007118.3(TRIO):c.4128G>A (p.Trp1376Ter) http://identifiers.org/clinvar/253081 ^@ NM_007118.3(TRIO):c.3752delA (p.Asp1251Valfs) http://identifiers.org/clinvar/253082 ^@ NM_007118.3(TRIO):c.649A>T (p.Arg217Ter) http://identifiers.org/clinvar/253083 ^@ NM_007118.3(TRIO):c.4466delA (p.Gln1489Argfs) http://identifiers.org/clinvar/253084 ^@ NM_007118.3(TRIO):c.4283G>A (p.Arg1428Gln) http://identifiers.org/clinvar/253085 ^@ NM_007118.3(TRIO):c.4381C>A (p.Pro1461Thr) http://identifiers.org/clinvar/253086 ^@ NM_007118.3(TRIO):c.3239A>T (p.Asn1080Ile) http://identifiers.org/clinvar/253087 ^@ RLIM, PRO587ARG http://identifiers.org/clinvar/253088 ^@ RLIM, ARG387CYS http://identifiers.org/clinvar/253089 ^@ RLIM, ARG599CYS http://identifiers.org/clinvar/253090 ^@ NR0B1, TRP39TER http://identifiers.org/clinvar/253091 ^@ NM_005505.4(SCARB1):c.1127C>T (p.Pro376Leu) http://identifiers.org/clinvar/253092 ^@ NM_145861.2(EDARADD):c.367G>A (p.Asp123Asn) http://identifiers.org/clinvar/253093 ^@ NM_145861.2(EDARADD):c.120+1G>A http://identifiers.org/clinvar/253094 ^@ NM_001256865.1(DNAJC6):c.2569A>G (p.Arg857Gly) http://identifiers.org/clinvar/253095 ^@ NM_001256865.1(DNAJC6):c.2013A>T (p.Thr671=) http://identifiers.org/clinvar/253096 ^@ NM_021927.2(GUF1):c.1825G>T (p.Ala609Ser) http://identifiers.org/clinvar/253097 ^@ NM_003504.4(CDC45):c.677A>G (p.Asp226Gly) http://identifiers.org/clinvar/253098 ^@ NM_003504.4(CDC45):c.318C>T (p.Val106=) http://identifiers.org/clinvar/253099 ^@ NM_003504.4(CDC45):c.226A>C (p.Asn76His) http://identifiers.org/clinvar/253100 ^@ NM_003504.4(CDC45):c.469C>T (p.Arg157Cys) http://identifiers.org/clinvar/253101 ^@ NM_003504.4(CDC45):c.1660C>T (p.Arg554Trp) http://identifiers.org/clinvar/253102 ^@ NM_003504.4(CDC45):c.203A>G (p.Gln68Arg) http://identifiers.org/clinvar/253103 ^@ NM_003504.4(CDC45):c.333C>T (p.Asn111=) http://identifiers.org/clinvar/253104 ^@ NM_003504.4(CDC45):c.893C>T (p.Ala298Val) http://identifiers.org/clinvar/253105 ^@ NM_003504.4(CDC45):c.(342+1_343-1)_(486+1_487-1)del http://identifiers.org/clinvar/253106 ^@ LAS1L, ALA269GLY http://identifiers.org/clinvar/253107 ^@ LAS1L, ARG415TRP http://identifiers.org/clinvar/253108 ^@ NM_007255.2(B4GALT7):c.421C>T (p.Arg141Trp) http://identifiers.org/clinvar/253109 ^@ NM_007255.2(B4GALT7):c.277dupC (p.His93Profs) http://identifiers.org/clinvar/253110 ^@ NM_007255.2(B4GALT7):c.641G>A (p.Cys214Tyr) http://identifiers.org/clinvar/264660 ^@ NM_001164342.2(ZBTB20):c.2221G>A (p.Gly741Arg) http://identifiers.org/clinvar/264659 ^@ NM_001164342.2(ZBTB20):c.1847C>T (p.Ser616Phe) http://identifiers.org/clinvar/253112 ^@ CLCN4, 13-BP DEL http://identifiers.org/clinvar/253113 ^@ CLCN4, GLY731ARG http://identifiers.org/clinvar/253114 ^@ CLCN4, GLY78SER http://identifiers.org/clinvar/253115 ^@ CLCN4, LEU221VAL http://identifiers.org/clinvar/253116 ^@ CLCN4, VAL536MET http://identifiers.org/clinvar/253117 ^@ NM_016213.4(TRIP4):c.950G>A (p.Arg317Gln) http://identifiers.org/clinvar/253118 ^@ NM_021619.2:c.1041_1043[(>14)] http://identifiers.org/clinvar/253119 ^@ NM_021619.2(PRDM12):c.305T>A (p.Ile102Asn) http://identifiers.org/clinvar/253120 ^@ NM_021619.2(PRDM12):c.91G>T (p.Asp31Tyr) http://identifiers.org/clinvar/253121 ^@ NM_021619.2(PRDM12):c.516G>C (p.Glu172Asp) http://identifiers.org/clinvar/253122 ^@ NM_021619.2(PRDM12):c.866A>T (p.His289Leu) http://identifiers.org/clinvar/253123 ^@ FLNC, ALA1539THR http://identifiers.org/clinvar/253124 ^@ FLNC, HIS2315ASN http://identifiers.org/clinvar/253125 ^@ FLNC, VAL123ALA http://identifiers.org/clinvar/253126 ^@ NM_001458.4(FLNC):c.4871C>T (p.Ser1624Leu) http://identifiers.org/clinvar/253127 ^@ NM_001458.4(FLNC):c.6478A>T (p.Ile2160Phe) http://identifiers.org/clinvar/253128 ^@ NM_198335.3(GANAB):c.1265G>T (p.Arg422Leu) http://identifiers.org/clinvar/253129 ^@ NM_198335.3(GANAB):c.1914_1915delAG (p.Asp640Glnfs) http://identifiers.org/clinvar/253130 ^@ NM_198335.3(GANAB):c.1214C>G (p.Thr405Arg) http://identifiers.org/clinvar/253131 ^@ NM_198335.3(GANAB):c.2690+2_2690+7del http://identifiers.org/clinvar/253132 ^@ NM_198335.3(GANAB):c.2515C>T (p.Arg839Trp) http://identifiers.org/clinvar/253133 ^@ NM_198334.2(GANAB):c.152_153delGA (p.Arg51Lysfs) http://identifiers.org/clinvar/253134 ^@ NM_004004.5(GJB2):c.193T>C (p.Tyr65His) http://identifiers.org/clinvar/253135 ^@ NM_003041.3(SLC5A2):c.265G>A (p.Ala89Thr) http://identifiers.org/clinvar/253136 ^@ NM_003705.4(SLC25A12):c.1058G>A (p.Arg353Gln) http://identifiers.org/clinvar/253139 ^@ NR1H4, 31.7-KB DEL http://identifiers.org/clinvar/253140 ^@ NM_018052.3(VAC14):c.1271G>T (p.Trp424Leu) http://identifiers.org/clinvar/253141 ^@ NM_018052.3(VAC14):c.1528+1G>A http://identifiers.org/clinvar/253142 ^@ NM_018052.3(VAC14):c.1744G>T (p.Ala582Ser) http://identifiers.org/clinvar/253143 ^@ NM_018052.3(VAC14):c.1748C>T (p.Ser583Leu) http://identifiers.org/clinvar/253144 ^@ NM_001261826.1(AP3D1):c.3565_3566delGT (p.Val1189Leufs) http://identifiers.org/clinvar/253145 ^@ NM_144772.2(NAXE):c.281C>A (p.Ala94Asp) http://identifiers.org/clinvar/253146 ^@ NM_013336.3(SEC61A1):c.553A>G (p.Thr185Ala) http://identifiers.org/clinvar/253147 ^@ NM_013336.3(SEC61A1):c.200T>G (p.Val67Gly) http://identifiers.org/clinvar/253148 ^@ NM_015164.3(PLEKHM2):c.1929_1930delAG (p.Lys645Alafs) http://identifiers.org/clinvar/253149 ^@ NM_001135597.1(CCDC88A):c.2315delT (p.Leu772Terfs) http://identifiers.org/clinvar/253150 ^@ NM_001080477.3(TENM3):c.2968-2A>T http://identifiers.org/clinvar/253151 ^@ SAMD9, ARG459GLN http://identifiers.org/clinvar/253152 ^@ SAMD9, ASP769ASN http://identifiers.org/clinvar/253153 ^@ SAMD9, ARG1293TRP http://identifiers.org/clinvar/253158 ^@ NM_006567.4(FARS2):c.973G>T (p.Asp325Tyr) http://identifiers.org/clinvar/253159 ^@ NM_006567.4(FARS2):c.424G>T (p.Asp142Tyr) http://identifiers.org/clinvar/253160 ^@ NM_017947.2(MOCOS):c.1255C>T (p.Arg419Ter) http://identifiers.org/clinvar/253161 ^@ NM_017947.2(MOCOS):c.169G>C (p.Ala57Pro) http://identifiers.org/clinvar/253162 ^@ NM_017947.2(MOCOS):c.2326C>T (p.Arg776Cys) http://identifiers.org/clinvar/253163 ^@ NM_017947.2(MOCOS):c.1037dupA (p.Gln347Alafs) http://identifiers.org/clinvar/253164 ^@ NM_001164405.1(BHLHA9):c.220_221delGAinsTT (p.Glu74Leu) http://identifiers.org/clinvar/253166 ^@ NM_018480.4(TMEM126B):c.397G>A (p.Asp133Asn) http://identifiers.org/clinvar/253167 ^@ NM_018480.4(TMEM126B):c.208C>T (p.Gln70Ter) http://identifiers.org/clinvar/253169 ^@ NM_031307.3(PUS3):c.1303C>T (p.Arg435Ter) http://identifiers.org/clinvar/253171 ^@ NM_001012339.2(DNAJC21):c.983+1G>T http://identifiers.org/clinvar/253174 ^@ NM_020923.2(ZDBF2):c.6248_6249dupTT (p.Asn2084Leufs) http://identifiers.org/clinvar/253185 ^@ NM_002447.3(MST1R):c.917G>A (p.Arg306His) http://identifiers.org/clinvar/253188 ^@ NM_001305563.1(TXNL4A):c.-60-959_44+638del http://identifiers.org/clinvar/253187 ^@ NM_006701.4(TXNL4A):c.153+3A>G http://identifiers.org/clinvar/253189 ^@ NM_006701.2:c.Exon 3 deletion http://identifiers.org/clinvar/253190 ^@ NC_000018.9:g.73376178_78077248del4701071 http://identifiers.org/clinvar/253191 ^@ NC_000018.9:g.76841645_78077248del1235604 http://identifiers.org/clinvar/253192 ^@ NC_000018.9:g.76854774_78077248del1222475 http://identifiers.org/clinvar/253193 ^@ NC_000018.9:g.77421290_77904990del483701 http://identifiers.org/clinvar/253194 ^@ NM_000902.3(MME):c.428G>A (p.Cys143Tyr) http://identifiers.org/clinvar/253195 ^@ NM_014191.3(SCN8A):c.4447G>A (p.Glu1483Lys) http://identifiers.org/clinvar/253197 ^@ NM_138459.3(NUS1):c.869G>A (p.Arg290His) http://identifiers.org/clinvar/253205 ^@ NM_004937.2(CTNS):c.323delA (p.Gln108Argfs) http://identifiers.org/clinvar/253206 ^@ NM_004937.2(CTNS):c.257_258delCT (p.Ser86Phefs) http://identifiers.org/clinvar/253207 ^@ NM_004937.2:c.661insT http://identifiers.org/clinvar/253208 ^@ NM_001031681.2(CTNS):c.91dupG (p.Val31Glyfs) http://identifiers.org/clinvar/253209 ^@ NM_004937.2(CTNS):c.120delC (p.Asn41Thrfs) http://identifiers.org/clinvar/253210 ^@ NM_018294.5(CWF19L1):c.946A>T (p.Lys316Ter) http://identifiers.org/clinvar/253212 ^@ NM_018294.5(CWF19L1):c.467delC (p.Pro156Hisfs) http://identifiers.org/clinvar/253218 ^@ NM_001193464.1(DYNC2LI1):c.622C>T (p.Arg208Ter) http://identifiers.org/clinvar/253219 ^@ NM_001193464.1(DYNC2LI1):c.662C>T (p.Thr221Ile) http://identifiers.org/clinvar/253221 ^@ NM_000218.2(KCNQ1):c.524_534dupTCTGGTCCGCC (p.Gly179Serfs) http://identifiers.org/clinvar/253222 ^@ NM_001080114.1(LDB3):c.728C>T (p.Pro243Leu) http://identifiers.org/clinvar/253224 ^@ NM_033109.4(PNPT1):c.1528G>C (p.Ala510Pro) http://identifiers.org/clinvar/253225 ^@ NM_033109.4(PNPT1):c.760C>A (p.Gln254Lys) http://identifiers.org/clinvar/253223 ^@ NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) http://identifiers.org/clinvar/253260 ^@ NM_144997.5(FLCN):c.1658G>A (p.Trp553Ter) http://identifiers.org/clinvar/253259 ^@ NM_144997.5(FLCN):c.1579_1580insA (p.Arg527Glnfs) http://identifiers.org/clinvar/253258 ^@ NM_144997.5(FLCN):c.1579C>T (p.Arg527Ter) http://identifiers.org/clinvar/253257 ^@ NM_144997.5(FLCN):c.1532G>A (p.Trp511Ter) http://identifiers.org/clinvar/253256 ^@ NM_144997.5(FLCN):c.1528_1530delGAG (p.Glu510del) http://identifiers.org/clinvar/253255 ^@ NM_144997.5(FLCN):c.1528delG (p.Glu510Serfs) http://identifiers.org/clinvar/253254 ^@ NM_144997.5(FLCN):c.1487_1490dupCTGT (p.Asp498Cysfs) http://identifiers.org/clinvar/253253 ^@ NM_144997.5(FLCN):c.1433-38A>G http://identifiers.org/clinvar/253252 ^@ NM_144997.5(FLCN):c.1432+1G>A http://identifiers.org/clinvar/253251 ^@ NM_144997.5(FLCN):c.1429C>T (p.Arg477Ter) http://identifiers.org/clinvar/253250 ^@ NM_144997.5(FLCN):c.1389C>A (p.Tyr463Ter) http://identifiers.org/clinvar/253249 ^@ NM_144997.5(FLCN):c.1318_1334dup17 (p.Leu449Glnfs) http://identifiers.org/clinvar/253248 ^@ NM_144997.5(FLCN):c.1300+1G>A http://identifiers.org/clinvar/253247 ^@ NM_144997.5(FLCN):c.1286dupA (p.His429Glnfs) http://identifiers.org/clinvar/253246 ^@ NM_144997.5(FLCN):c.1253T>C (p.Leu418Pro) http://identifiers.org/clinvar/253245 ^@ NM_144997.5(FLCN):c.1124_1139del16 (p.Ile375Thrfs) http://identifiers.org/clinvar/253244 ^@ NM_144997.5(FLCN):c.1098G>A (p.Trp366Ter) http://identifiers.org/clinvar/253243 ^@ NM_144997.5(FLCN):c.1067T>C (p.Leu356Pro) http://identifiers.org/clinvar/253242 ^@ NM_144997.5(FLCN):c.1036_1043delTTCAAGTC (p.Phe346Profs) http://identifiers.org/clinvar/253241 ^@ NM_144997.5(FLCN):c.927dupA (p.Ala310Serfs) http://identifiers.org/clinvar/253240 ^@ NM_144997.5(FLCN):c.875T>G (p.Leu292Ter) http://identifiers.org/clinvar/253239 ^@ NM_144997.5(FLCN):c.853C>T (p.Gln285Ter) http://identifiers.org/clinvar/253238 ^@ NM_144997.5(FLCN):c.851delT (p.Val284Alafs) http://identifiers.org/clinvar/253237 ^@ NM_144997.5(FLCN):c.764A>C (p.His255Pro) http://identifiers.org/clinvar/253236 ^@ NM_144997.5(FLCN):c.763C>T (p.His255Tyr) http://identifiers.org/clinvar/253235 ^@ NM_144997.5(FLCN):c.752G>A (p.Trp251Ter) http://identifiers.org/clinvar/253234 ^@ NM_144997.5(FLCN):c.735_738delAAGT (p.Ser246Metfs) http://identifiers.org/clinvar/253233 ^@ NM_144997.5(FLCN):c.716G>A (p.Arg239His) http://identifiers.org/clinvar/253232 ^@ NM_144997.5(FLCN):c.634C>T (p.Gln212Ter) http://identifiers.org/clinvar/253231 ^@ NM_144997.5(FLCN):c.632_633delAGinsC (p.Glu211Alafs) http://identifiers.org/clinvar/253230 ^@ NM_144997.5(FLCN):c.453delG (p.Phe152Serfs) http://identifiers.org/clinvar/253229 ^@ NM_144997.5(FLCN):c.445G>A (p.Gly149Ser) http://identifiers.org/clinvar/253228 ^@ NM_144997.5(FLCN):c.176G>A (p.Arg59His) http://identifiers.org/clinvar/253227 ^@ NM_144997.5(FLCN):c.31T>A (p.Cys11Ser) http://identifiers.org/clinvar/253226 ^@ NM_144997.5(FLCN):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/253261 ^@ NM_012062.4(DNM1L):c.1085G>A (p.Gly362Asp) http://identifiers.org/clinvar/253262 ^@ NM_012062.4(DNM1L):c.1084G>A (p.Gly362Ser) http://identifiers.org/clinvar/253263 ^@ NM_001278464.1(DNM1L):c.261dupA (p.Trp88Metfs) http://identifiers.org/clinvar/253264 ^@ NM_012062.4(DNM1L):c.346_347delGA (p.Glu116Lysfs) http://identifiers.org/clinvar/253266 ^@ NM_012062.4(DNM1L):c.106A>G (p.Ser36Gly) http://identifiers.org/clinvar/253267 ^@ NM_012062.4(DNM1L):c.1048G>A (p.Gly350Arg) http://identifiers.org/clinvar/253268 ^@ NM_001277061.1(MFF):c.184dupC (p.Leu62Profs) http://identifiers.org/clinvar/253269 ^@ NM_001277061.1(MFF):c.892C>T (p.Arg298Ter) http://identifiers.org/clinvar/253270 ^@ NM_001277061.1(MFF):c.453_454delAA (p.Glu153Alafs) http://identifiers.org/clinvar/253271 ^@ NM_014264.4(PLK4):c.201_213delGAAACATCCTTCT (p.Lys68Serfs) http://identifiers.org/clinvar/253272 ^@ NM_014321.3(ORC6):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/253273 ^@ NM_014321.3(ORC6):c.449+5G>A http://identifiers.org/clinvar/253274 ^@ NM_014321.3(ORC6):c.602_605delAGAA (p.Lys201Argfs) http://identifiers.org/clinvar/253275 ^@ NM_014191.3(SCN8A):c.629T>C (p.Phe210Leu) http://identifiers.org/clinvar/253276 ^@ NM_014191.3(SCN8A):c.641G>A (p.Gly214Asp) http://identifiers.org/clinvar/253277 ^@ NM_014191.3(SCN8A):c.643A>G (p.Asn215Arg) http://identifiers.org/clinvar/253278 ^@ NM_014191.3(SCN8A):c.647T>A (p.Val216Asp) http://identifiers.org/clinvar/253279 ^@ NM_014191.3(SCN8A):c.779T>C (p.Phe260Ser) http://identifiers.org/clinvar/253280 ^@ NM_014191.3(SCN8A):c.1221G>C (p.Leu407Phe) http://identifiers.org/clinvar/253281 ^@ NM_014191.3(SCN8A):c.1228G>C (p.Val410Leu) http://identifiers.org/clinvar/253282 ^@ NM_014191.3(SCN8A):c.1588C>T (p.Arg530Trp) http://identifiers.org/clinvar/253284 ^@ NM_014191.3(SCN8A):c.2537T>C (p.Phe846Ser) http://identifiers.org/clinvar/253285 ^@ NM_014191.3(SCN8A):c.2624T>A (p.Leu875Gln) http://identifiers.org/clinvar/253286 ^@ NM_014191.3(SCN8A):c.2668G>A (p.Ala890Thr) http://identifiers.org/clinvar/253287 ^@ NM_014191.3(SCN8A):c.2879T>A (p.Val960Asp) http://identifiers.org/clinvar/253288 ^@ NM_014191.3(SCN8A):c.3979A>G (p.Ile1327Val) http://identifiers.org/clinvar/253290 ^@ NM_014191.3(SCN8A):c.4787C>G (p.Ser1596Cys) http://identifiers.org/clinvar/253292 ^@ NM_014191.3(SCN8A):c.4862T>G (p.Leu1621Trp) http://identifiers.org/clinvar/253293 ^@ NM_014191.3(SCN8A):c.4873G>A (p.Gly1625Arg) http://identifiers.org/clinvar/253294 ^@ NM_014191.3(SCN8A):c.4948G>A (p.Ala1650Thr) http://identifiers.org/clinvar/253295 ^@ NM_014191.3(SCN8A):c.5401C>G (p.Gln1801Glu) http://identifiers.org/clinvar/253296 ^@ NM_014191.3(SCN8A):c.5610A>T (p.Glu1870Asp) http://identifiers.org/clinvar/253297 ^@ NM_014191.3(SCN8A):c.5615G>A (p.Arg1872Gln) http://identifiers.org/clinvar/253283 ^@ NM_014191.3(SCN8A):c.2003C>T (p.Thr668Ile) http://identifiers.org/clinvar/253289 ^@ NP_055006.1(SCN8A):p.Pro1428_Lys1473del http://identifiers.org/clinvar/253291 ^@ NM_014191.3(SCN8A):c.4813A>G (p.Ile1605Val) http://identifiers.org/clinvar/253300 ^@ NM_018014.3(BCL11A):c.139A>C (p.Thr47Pro) http://identifiers.org/clinvar/253301 ^@ NM_018014.3(BCL11A):c.143G>T (p.Cys48Phe) http://identifiers.org/clinvar/253302 ^@ NM_018014.3(BCL11A):c.198C>A (p.His66Gln) http://identifiers.org/clinvar/253304 ^@ NM_018014.3(BCL11A):c.1775_1776insTGG (p.Gly592_Glu593insGly) http://identifiers.org/clinvar/253305 ^@ NM_018014.3(BCL11A):c.154C>T (p.Gln52Ter) http://identifiers.org/clinvar/253306 ^@ NM_016004.4(IFT52):c.424C>T (p.Arg142Ter) http://identifiers.org/clinvar/253307 ^@ NM_016004.4(IFT52):c.595G>A (p.Ala199Thr) http://identifiers.org/clinvar/253308 ^@ NM_016004.4(IFT52):c.878delT (p.Leu293Argfs) http://identifiers.org/clinvar/253309 ^@ NM_006563.4(KLF1):c.954G>C (p.Trp318Cys) http://identifiers.org/clinvar/253312 ^@ NM_001429.3(EP300):c.3163C>T (p.Arg1055Ter) http://identifiers.org/clinvar/253313 ^@ NM_001429.3(EP300):c.6627_6638delCCAGTTCCAGCA (p.Asn2209_Gln2213delinsLys) http://identifiers.org/clinvar/253315 ^@ NM_003977.3(AIP):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/253316 ^@ NM_003977.3(AIP):c.469-17T>C http://identifiers.org/clinvar/253317 ^@ NM_013417.3(IARS):c.1252C>T (p.Arg418Ter) http://identifiers.org/clinvar/253318 ^@ NM_013417.3(IARS):c.3521T>A (p.Ile1174Asn) http://identifiers.org/clinvar/253319 ^@ NM_013417.3(IARS):c.1310C>T (p.Pro437Leu) http://identifiers.org/clinvar/253320 ^@ NM_013417.3(IARS):c.760C>T (p.Arg254Ter) http://identifiers.org/clinvar/253321 ^@ NM_013417.3(IARS):c.1109T>G (p.Val370Gly) http://identifiers.org/clinvar/253322 ^@ NM_013417.3(IARS):c.2974A>G (p.Asn992Asp) http://identifiers.org/clinvar/253323 ^@ NM_002439.4(MSH3):c.3001-2A>C http://identifiers.org/clinvar/253324 ^@ NM_002439.4(MSH3):c.2760delC (p.Tyr921Metfs) http://identifiers.org/clinvar/253325 ^@ NM_002439.4(MSH3):c.2319-1G>A http://identifiers.org/clinvar/253326 ^@ NM_006017.2(PROM1):c.1157T>A (p.Leu386Ter) http://identifiers.org/clinvar/253327 ^@ NM_006017.2(PROM1):c.2281-26_2281-17del http://identifiers.org/clinvar/253328 ^@ NM_153614.3(DNAJB13):c.833T>G (p.Met278Arg) http://identifiers.org/clinvar/253329 ^@ NM_153614.3(DNAJB13):c.68+1G>C http://identifiers.org/clinvar/253331 ^@ NM_000207.2(INS):c.125T>C (p.Val42Ala) http://identifiers.org/clinvar/253332 ^@ NC_000003.11:g.(?_119749810)_(122459323_?)dup http://identifiers.org/clinvar/253333 ^@ NC_000003.11:g.(?_135935129)_(141867748_?)dup http://identifiers.org/clinvar/253334 ^@ NC_000003.11:g.(?_9405337)_(10168892_?)dup http://identifiers.org/clinvar/253335 ^@ NC_000002.11:g.(?_148957572)_(149027461_?)del http://identifiers.org/clinvar/253336 ^@ NC_000022.10:g.(?_46316673)_(50357320_?)del http://identifiers.org/clinvar/253337 ^@ NC_000002.11:g.(?_174586724)_(176423918_?)del http://identifiers.org/clinvar/253338 ^@ NC_000003.11:g.(?_114260384)_(116691114_?)del http://identifiers.org/clinvar/253339 ^@ NC_000003.11:g.(?_193360287)_(193360759_?)del http://identifiers.org/clinvar/253340 ^@ NC_000023.10:g.(?_2873380)_(2878978_?)dup http://identifiers.org/clinvar/253341 ^@ NC_000007.13:g.(?_73591993)_(75914797_?)del http://identifiers.org/clinvar/253342 ^@ NC_000001.10:g.(?_145291030)_(145735385_?)dup http://identifiers.org/clinvar/253343 ^@ NC_000007.13:g.(?_147006667)_(147101307_?)del http://identifiers.org/clinvar/253344 ^@ NC_000008.10:g.(?_56405320)_(57358911_?)del http://identifiers.org/clinvar/253345 ^@ NC_000017.10:g.(?_55916829)_(56770618_?)del http://identifiers.org/clinvar/253346 ^@ NC_000002.11:g.(?_148778595)_(148799306_?)del http://identifiers.org/clinvar/253347 ^@ NC_000021.8:g.(?_46682125)_(48090317_?)dup http://identifiers.org/clinvar/253348 ^@ NC_000002.11:g.(?_201949918)_(201950495_?)del http://identifiers.org/clinvar/253349 ^@ NC_000017.10:g.(?_961016)_(1641881_?)dup http://identifiers.org/clinvar/253350 ^@ NC_000001.10:g.(?_145387945)_(145735385_?)dup http://identifiers.org/clinvar/253351 ^@ NC_000022.10:g.(?_23258229)_(23654222_?)del http://identifiers.org/clinvar/253352 ^@ NC_000001.10:g.(?_145368848)_(145735385_?)dup http://identifiers.org/clinvar/253353 ^@ NC_000015.9:g.(?_31115047)_(32917857_?)dup http://identifiers.org/clinvar/253354 ^@ NC_000007.13:g.(?_77972816)_(78186999_?)del http://identifiers.org/clinvar/253355 ^@ NC_000015.9:g.(?_32024132)_(32418279_?)del http://identifiers.org/clinvar/253356 ^@ NC_000003.11:g.(?_37028313)_(49929220_?)dup http://identifiers.org/clinvar/253357 ^@ NC_000003.11:g.(?_196281672)_(197681798_?)dup http://identifiers.org/clinvar/253358 ^@ NC_000001.10:g.(?_8255222)_(12785220_?)dup http://identifiers.org/clinvar/253359 ^@ NC_000019.9:g.(?_50364553)_(50365166_?)del http://identifiers.org/clinvar/253360 ^@ NC_000022.10:g.(?_21923858)_(22963000_?)del http://identifiers.org/clinvar/253361 ^@ NC_000022.10:g.(?_21074920)_(21440514_?)del http://identifiers.org/clinvar/253362 ^@ NC_000012.11:g.(?_116497982)_(116534949_?)del http://identifiers.org/clinvar/253363 ^@ NC_000021.8:g.(?_47550596)_(48080926_?)del http://identifiers.org/clinvar/253364 ^@ NC_000008.10:g.(?_70971013)_(82019151_?)dup http://identifiers.org/clinvar/253365 ^@ NC_000001.10:g.(?_1309373)_(2043694_?)dup http://identifiers.org/clinvar/253366 ^@ NC_000007.13:g.(?_156431577)_(157598312_?)del http://identifiers.org/clinvar/253367 ^@ NC_000014.8:g.(?_23859940)_(23889004_?)del http://identifiers.org/clinvar/253368 ^@ NC_000023.10:g.(?_28803130)_(28903570_?)dup http://identifiers.org/clinvar/253369 ^@ NC_000003.11:g.(?_270649)_(3927005_?)del http://identifiers.org/clinvar/253370 ^@ NC_000007.13:g.(?_77972816)_(79082129_?)del http://identifiers.org/clinvar/253371 ^@ NC_000016.9:g.(?_29822338)_(29826328_?)dup http://identifiers.org/clinvar/253372 ^@ NC_000016.9:g.(?_29822338)_(29826328_?)del http://identifiers.org/clinvar/253373 ^@ NC_000007.13:g.(?_69307298)_(69395898_?)del http://identifiers.org/clinvar/253374 ^@ NC_000016.9:g.(?_29646320)_(30197341_?)del http://identifiers.org/clinvar/253375 ^@ NC_000016.9:g.(?_9915837)_(9916457_?)del http://identifiers.org/clinvar/253376 ^@ NC_000023.10:g.(?_70297)_(155255839_?)dup http://identifiers.org/clinvar/253377 ^@ NC_000003.11:g.(?_142995020)_(192997215_?)dup http://identifiers.org/clinvar/253378 ^@ NC_000015.9:g.(?_31115047)_(32418279_?)del http://identifiers.org/clinvar/253379 ^@ NC_000007.13:g.(?_66103208)_(66105624_?)dup http://identifiers.org/clinvar/253380 ^@ NC_000002.11:g.(?_86441169)_(86509452_?)dup http://identifiers.org/clinvar/253381 ^@ NC_000016.9:g.(?_29656684)_(30197341_?)dup http://identifiers.org/clinvar/253382 ^@ NC_000016.9:g.(?_9923137)_(9923798_?)del http://identifiers.org/clinvar/253383 ^@ NC_000022.10:g.(?_19023801)_(21440514_?)del http://identifiers.org/clinvar/253384 ^@ NC_000017.10:g.(?_14139857)_(15707850_?)dup http://identifiers.org/clinvar/253385 ^@ NC_000020.10:g.(?_62045767)_(62055866_?)del http://identifiers.org/clinvar/253386 ^@ NC_000001.10:g.(?_146535353)_(147824207_?)del http://identifiers.org/clinvar/253387 ^@ NC_000002.11:g.(?_222150306)_(223174130_?)del http://identifiers.org/clinvar/253388 ^@ NC_000002.11:g.(?_109798247)_(125658380_?)del http://identifiers.org/clinvar/253389 ^@ NC_000023.10:g.(?_71267)_(155234036_?)dup http://identifiers.org/clinvar/253390 ^@ NC_000022.10:g.(?_18894339)_(21440514_?)del http://identifiers.org/clinvar/253391 ^@ NC_000008.10:g.(?_190822)_(6735381_?)del http://identifiers.org/clinvar/253392 ^@ NC_000008.10:g.(?_12580132)_(26774307_?)dup http://identifiers.org/clinvar/253393 ^@ NC_000023.10:g.(?_18442534)_(18529433_?)del http://identifiers.org/clinvar/253394 ^@ NC_000017.10:g.(?_15133960)_(15169915_?)dup http://identifiers.org/clinvar/253395 ^@ NC_000023.10:g.(?_18597661)_(18600349_?)del http://identifiers.org/clinvar/253396 ^@ NC_000023.10:g.(?_99551100)_(99606139_?)del http://identifiers.org/clinvar/253397 ^@ NC_000015.9:g.(?_25583931)_(25685400_?)dup http://identifiers.org/clinvar/253398 ^@ NC_000002.11:g.(?_148777298)_(148779627_?)dup http://identifiers.org/clinvar/253399 ^@ NC_000022.10:g.(?_16054691)_(18650708_?)dup http://identifiers.org/clinvar/253400 ^@ NC_000004.11:g.(?_6447048)_(20490737_?)dup http://identifiers.org/clinvar/253401 ^@ NC_000022.10:g.(?_18894835)_(21440514_?)del http://identifiers.org/clinvar/253402 ^@ NC_000009.11:g.(?_163131)_(141122114_?)dup http://identifiers.org/clinvar/253403 ^@ NC_000021.8:g.(?_15410701)_(48090317_?)dup http://identifiers.org/clinvar/253404 ^@ NC_000001.10:g.(?_146535353)_(147844809_?)del http://identifiers.org/clinvar/253405 ^@ NC_000013.10:g.(?_19571503)_(115092569_?)dup http://identifiers.org/clinvar/253406 ^@ NC_000004.11:g.(?_178243625)_(190713650_?)del http://identifiers.org/clinvar/253407 ^@ NC_000008.10:g.(?_158991)_(13304906_?)dup http://identifiers.org/clinvar/253408 ^@ NC_000020.10:g.(?_17705775)_(31600738_?)dup http://identifiers.org/clinvar/253409 ^@ NC_000002.11:g.(?_50516550)_(51259738_?)del http://identifiers.org/clinvar/253410 ^@ NC_000023.10:g.(?_53220822)_(58066465_?)dup http://identifiers.org/clinvar/253411 ^@ NC_000023.10:g.(?_18442534)_(18684145_?)del http://identifiers.org/clinvar/253412 ^@ NC_000015.9:g.(?_25583931)_(32418279_?)dup http://identifiers.org/clinvar/253413 ^@ NC_000013.10:g.(?_77574552)_(77575350_?)del http://identifiers.org/clinvar/253414 ^@ NC_000002.11:g.(?_166894421)_(166903728_?)del http://identifiers.org/clinvar/253415 ^@ NC_000005.9:g.(?_88018116)_(88183698_?)del http://identifiers.org/clinvar/253416 ^@ NC_000022.10:g.(?_18900442)_(21440514_?)del http://identifiers.org/clinvar/253417 ^@ NC_000016.9:g.(?_28497795)_(28498182_?)del http://identifiers.org/clinvar/253418 ^@ NC_000020.10:g.(?_62051174)_(62078598_?)del http://identifiers.org/clinvar/253419 ^@ NC_000008.10:g.(?_1718834)_(1729007_?)del http://identifiers.org/clinvar/253420 ^@ NC_000017.10:g.(?_2496180)_(2498568_?)del http://identifiers.org/clinvar/253421 ^@ NC_000002.11:g.(?_166847469)_(166930620_?)del http://identifiers.org/clinvar/253422 ^@ NC_000002.11:g.(?_148777552)_(148991171_?)del http://identifiers.org/clinvar/253423 ^@ NC_000007.13:g.(?_72708237)_(74339044_?)del http://identifiers.org/clinvar/253424 ^@ NC_000018.9:g.(?_163323)_(78005236_?)dup http://identifiers.org/clinvar/253425 ^@ NC_000018.9:g.(?_58014591)_(68158862_?)del http://identifiers.org/clinvar/253426 ^@ NC_000017.10:g.(?_17053390)_(19893098_?)del http://identifiers.org/clinvar/253427 ^@ NC_000018.9:g.(?_71078132)_(78005236_?)dup http://identifiers.org/clinvar/253428 ^@ NC_000024.9:g.(?_20297)_(59358845_?)dup http://identifiers.org/clinvar/253429 ^@ NC_000009.11:g.(?_130373225)_(130453427_?)del http://identifiers.org/clinvar/253430 ^@ NC_000006.11:g.(?_5354402)_(17950079_?)del http://identifiers.org/clinvar/253431 ^@ NC_000004.11:g.(?_71552)_(29006745_?)del http://identifiers.org/clinvar/253432 ^@ NC_000023.10:g.(?_150002)_(155234036_?)dup http://identifiers.org/clinvar/253433 ^@ NC_000022.10:g.(?_21400683)_(23654222_?)dup http://identifiers.org/clinvar/253434 ^@ NC_000019.9:g.(?_54280799)_(54635178_?)del http://identifiers.org/clinvar/253435 ^@ NC_000022.10:g.(?_23258229)_(25046803_?)dup http://identifiers.org/clinvar/253436 ^@ NC_000023.10:g.(?_44734936)_(79676121_?)dup http://identifiers.org/clinvar/253437 ^@ NC_000001.10:g.(?_144709677)_(145735385_?)dup http://identifiers.org/clinvar/253438 ^@ NC_000023.10:g.(?_176426)_(155250222_?)dup http://identifiers.org/clinvar/253439 ^@ NC_000010.10:g.(?_122239239)_(128203032_?)del http://identifiers.org/clinvar/253440 ^@ NC_000017.10:g.(?_1218064)_(2619473_?)del http://identifiers.org/clinvar/253441 ^@ NC_000002.11:g.(?_110881237)_(110963848_?)del http://identifiers.org/clinvar/253442 ^@ NC_000023.10:g.(?_135067386)_(135068117_?)del http://identifiers.org/clinvar/253443 ^@ NC_000022.10:g.(?_17264511)_(23238029_?)dup http://identifiers.org/clinvar/253444 ^@ NC_000015.9:g.(?_20733395)_(28406709_?)dup http://identifiers.org/clinvar/253445 ^@ NC_000020.10:g.(?_61827144)_(62907526_?)del http://identifiers.org/clinvar/253446 ^@ NC_000023.10:g.(?_53085607)_(67176333_?)dup http://identifiers.org/clinvar/253447 ^@ NC_000004.11:g.(?_38532827)_(49064044_?)dup http://identifiers.org/clinvar/253448 ^@ NC_000021.8:g.(?_32578640)_(35060092_?)del http://identifiers.org/clinvar/253449 ^@ NC_000018.9:g.(?_163323)_(15102598_?)dup http://identifiers.org/clinvar/253450 ^@ NC_000004.11:g.(?_23458442)_(29252060_?)del http://identifiers.org/clinvar/253451 ^@ NC_000001.10:g.(?_146535353)_(147857135_?)del http://identifiers.org/clinvar/253452 ^@ NC_000019.9:g.(?_37582250)_(41630908_?)dup http://identifiers.org/clinvar/253453 ^@ NC_000002.11:g.(?_166094617)_(166246621_?)dup http://identifiers.org/clinvar/253454 ^@ NC_000023.10:g.(?_154115785)_(154528181_?)del http://identifiers.org/clinvar/253455 ^@ NC_000007.13:g.(?_111613396)_(127897316_?)del http://identifiers.org/clinvar/253456 ^@ NC_000006.11:g.(?_204009)_(6447311_?)del http://identifiers.org/clinvar/253457 ^@ NC_000018.9:g.(?_52921652)_(52926903_?)del http://identifiers.org/clinvar/253458 ^@ NC_000023.10:g.(?_150002)_(155234036_?)dup http://identifiers.org/clinvar/253459 ^@ NC_000001.10:g.(?_746608)_(15077159_?)del http://identifiers.org/clinvar/253460 ^@ NC_000023.10:g.(?_103031174)_(103046823_?)del http://identifiers.org/clinvar/253461 ^@ NC_000001.10:g.(?_146535353)_(147877206_?)dup http://identifiers.org/clinvar/253462 ^@ NC_000020.10:g.(?_61977731)_(62105264_?)del http://identifiers.org/clinvar/253463 ^@ NC_000009.11:g.(?_130415943)_(130420935_?)del http://identifiers.org/clinvar/253464 ^@ NC_000002.11:g.(?_166847469)_(166931348_?)del http://identifiers.org/clinvar/253465 ^@ NC_000005.9:g.(?_161493370)_(161531041_?)del http://identifiers.org/clinvar/253466 ^@ NC_000011.9:g.(?_31284306)_(32458309_?)del http://identifiers.org/clinvar/253467 ^@ NC_000016.9:g.(?_28826162)_(29043960_?)del http://identifiers.org/clinvar/253468 ^@ NC_000020.10:g.(?_61429900)_(62293991_?)del http://identifiers.org/clinvar/253469 ^@ NC_000023.10:g.(?_129796796)_(132686500_?)del http://identifiers.org/clinvar/253470 ^@ NC_000016.9:g.(?_2867891)_(3942436_?)dup http://identifiers.org/clinvar/253471 ^@ NC_000001.10:g.(?_172742952)_(181814496_?)del http://identifiers.org/clinvar/253472 ^@ NC_000017.10:g.(?_34849849)_(36151346_?)dup http://identifiers.org/clinvar/253473 ^@ NC_000022.10:g.(?_16054691)_(27296513_?)dup http://identifiers.org/clinvar/253474 ^@ NC_000004.11:g.(?_1190911)_(2255904_?)del http://identifiers.org/clinvar/253475 ^@ NC_000016.9:g.(?_15494600)_(16327230_?)del http://identifiers.org/clinvar/253476 ^@ NC_000023.10:g.(?_31766614)_(31896429_?)del http://identifiers.org/clinvar/253477 ^@ NC_000021.8:g.(?_39841248)_(44652723_?)dup http://identifiers.org/clinvar/253478 ^@ NC_000005.9:g.(?_79146)_(15509107_?)del http://identifiers.org/clinvar/253479 ^@ NC_000010.10:g.(?_103288313)_(135512075_?)dup http://identifiers.org/clinvar/253480 ^@ NC_000002.11:g.(?_51083410)_(51382872_?)del http://identifiers.org/clinvar/253481 ^@ NC_000024.9:g.(?_126426)_(59349649_?)dup http://identifiers.org/clinvar/253482 ^@ NC_000009.11:g.(?_135771359)_(135821093_?)del http://identifiers.org/clinvar/253483 ^@ NC_000023.10:g.(?_71267)_(3248235_?)del http://identifiers.org/clinvar/253484 ^@ NC_000001.10:g.(?_143500223)_(149763815_?)dup http://identifiers.org/clinvar/253485 ^@ NC_000022.10:g.(?_22976696)_(25053311_?)dup http://identifiers.org/clinvar/253486 ^@ NC_000009.11:g.(?_130420443)_(130420935_?)del http://identifiers.org/clinvar/253487 ^@ NC_000023.10:g.(?_2707626)_(155250222_?)dup http://identifiers.org/clinvar/253488 ^@ NC_000023.10:g.(?_70297)_(1015886_?)del http://identifiers.org/clinvar/253489 ^@ NC_000023.10:g.(?_71267)_(35809046_?)del http://identifiers.org/clinvar/253490 ^@ NC_000016.9:g.(?_29060171)_(30195607_?)dup http://identifiers.org/clinvar/253491 ^@ NC_000013.10:g.(?_89796110)_(115083342_?)del http://identifiers.org/clinvar/253492 ^@ NC_000023.10:g.(?_71267)_(155255839_?)del http://identifiers.org/clinvar/253493 ^@ NC_000012.11:g.(?_89061)_(34178799_?)dup http://identifiers.org/clinvar/253494 ^@ NC_000009.11:g.(?_130430429)_(130430704_?)del http://identifiers.org/clinvar/253495 ^@ NC_000023.10:g.(?_71267)_(155224766_?)del http://identifiers.org/clinvar/253496 ^@ NC_000007.13:g.(?_155100276)_(155768780_?)del http://identifiers.org/clinvar/253497 ^@ NC_000015.9:g.(?_22698522)_(28406709_?)del http://identifiers.org/clinvar/253498 ^@ NC_000023.10:g.(?_6639808)_(7896607_?)del http://identifiers.org/clinvar/253499 ^@ NC_000022.10:g.(?_22988879)_(24276233_?)dup http://identifiers.org/clinvar/253500 ^@ NC_000022.10:g.(?_24401196)_(25010751_?)dup http://identifiers.org/clinvar/253501 ^@ NC_000003.11:g.(?_10128763)_(10188569_?)del http://identifiers.org/clinvar/253502 ^@ NC_000017.10:g.(?_34849849)_(36151346_?)del http://identifiers.org/clinvar/253503 ^@ NC_000004.11:g.(?_12440)_(49064044_?)dup http://identifiers.org/clinvar/253504 ^@ NC_000005.9:g.(?_154886174)_(169757448_?)del http://identifiers.org/clinvar/253505 ^@ NC_000001.10:g.(?_146535353)_(147380935_?)del http://identifiers.org/clinvar/253506 ^@ NC_000016.9:g.(?_10031589)_(10051402_?)del http://identifiers.org/clinvar/253507 ^@ NC_000017.10:g.(?_919381)_(4046915_?)dup http://identifiers.org/clinvar/253508 ^@ NC_000004.11:g.(?_176270886)_(190713650_?)del http://identifiers.org/clinvar/253509 ^@ NC_000022.10:g.(?_16054691)_(51237518_?)dup http://identifiers.org/clinvar/253510 ^@ NC_000023.10:g.(?_153047627)_(153555804_?)dup http://identifiers.org/clinvar/253511 ^@ NC_000006.11:g.(?_204009)_(11608587_?)del http://identifiers.org/clinvar/253512 ^@ NC_000021.8:g.(?_15538655)_(48080926_?)del http://identifiers.org/clinvar/253513 ^@ NC_000011.9:g.(?_30615127)_(40606139_?)del http://identifiers.org/clinvar/253514 ^@ NC_000023.10:g.(?_153627408)_(154089925_?)dup http://identifiers.org/clinvar/253515 ^@ NC_000020.10:g.(?_10639152)_(10639516_?)del http://identifiers.org/clinvar/253516 ^@ NC_000015.9:g.(?_64637227)_(102509910_?)dup http://identifiers.org/clinvar/253517 ^@ NC_000003.11:g.(?_4134224)_(4665869_?)del http://identifiers.org/clinvar/253518 ^@ NC_000024.9:g.(?_21267)_(59349649_?)dup http://identifiers.org/clinvar/253519 ^@ NC_000023.10:g.(?_102774255)_(103167770_?)dup http://identifiers.org/clinvar/253520 ^@ NC_000011.9:g.(?_115215434)_(120559928_?)dup http://identifiers.org/clinvar/253521 ^@ NC_000011.9:g.(?_120615374)_(134868407_?)del http://identifiers.org/clinvar/253522 ^@ NC_000016.9:g.(?_28497795)_(28498122_?)del http://identifiers.org/clinvar/253523 ^@ NC_000023.10:g.(?_1378591)_(25940311_?)dup http://identifiers.org/clinvar/253524 ^@ NC_000010.10:g.(?_2593113)_(8484746_?)del http://identifiers.org/clinvar/253525 ^@ NC_000016.9:g.(?_29060171)_(30197341_?)dup http://identifiers.org/clinvar/253526 ^@ NC_000006.11:g.(?_168775)_(24023234_?)dup http://identifiers.org/clinvar/253527 ^@ NC_000021.8:g.(?_46363553)_(48080926_?)del http://identifiers.org/clinvar/253528 ^@ NC_000022.10:g.(?_20749625)_(23972878_?)del http://identifiers.org/clinvar/253529 ^@ NC_000016.9:g.(?_2096989)_(2135026_?)del http://identifiers.org/clinvar/253530 ^@ NC_000023.10:g.(?_571286)_(920674_?)del http://identifiers.org/clinvar/253531 ^@ NC_000022.10:g.(?_21923858)_(23025727_?)dup http://identifiers.org/clinvar/253532 ^@ NC_000023.10:g.(?_129760788)_(132675352_?)del http://identifiers.org/clinvar/253533 ^@ NC_000013.10:g.(?_72013791)_(88021559_?)del http://identifiers.org/clinvar/253534 ^@ NC_000011.9:g.(?_31802384)_(31825698_?)del http://identifiers.org/clinvar/253535 ^@ NC_000016.9:g.(?_29656684)_(30197341_?)del http://identifiers.org/clinvar/253536 ^@ NC_000015.9:g.(?_20190548)_(32386089_?)dup http://identifiers.org/clinvar/253537 ^@ NC_000005.9:g.(?_22149)_(34041255_?)dup http://identifiers.org/clinvar/253538 ^@ NC_000017.10:g.(?_2497629)_(2585485_?)del http://identifiers.org/clinvar/253539 ^@ NC_000007.13:g.(?_72718252)_(74133332_?)del http://identifiers.org/clinvar/253540 ^@ NC_000019.9:g.(?_43013365)_(47241534_?)del http://identifiers.org/clinvar/253541 ^@ NC_000002.11:g.(?_109556627)_(117570152_?)del http://identifiers.org/clinvar/253542 ^@ NC_000024.9:g.(?_21267)_(59337042_?)dup http://identifiers.org/clinvar/253543 ^@ NC_000015.9:g.(?_98458265)_(102354857_?)del http://identifiers.org/clinvar/253544 ^@ NC_000017.10:g.(?_15133960)_(15169915_?)del http://identifiers.org/clinvar/253545 ^@ NC_000017.10:g.(?_14110043)_(14111913_?)del http://identifiers.org/clinvar/253546 ^@ NC_000001.10:g.(?_181572003)_(191524283_?)del http://identifiers.org/clinvar/253547 ^@ NC_000001.10:g.(?_243103401)_(249119318_?)del http://identifiers.org/clinvar/253548 ^@ NC_000011.9:g.(?_6639647)_(6641899_?)del http://identifiers.org/clinvar/253549 ^@ NC_000017.10:g.(?_56321134)_(62080001_?)dup http://identifiers.org/clinvar/253550 ^@ NC_000022.10:g.(?_18650664)_(21440514_?)dup http://identifiers.org/clinvar/253551 ^@ NC_000012.11:g.(?_222888)_(3931052_?)del http://identifiers.org/clinvar/253552 ^@ NC_000023.10:g.(?_6456036)_(8139238_?)del http://identifiers.org/clinvar/253553 ^@ NC_000023.10:g.(?_663566)_(943953_?)del http://identifiers.org/clinvar/253554 ^@ NC_000016.9:g.(?_74872514)_(90274440_?)dup http://identifiers.org/clinvar/253555 ^@ NC_000022.10:g.(?_50922386)_(51205985_?)del http://identifiers.org/clinvar/253556 ^@ NC_000024.9:g.(?_100002)_(15906224_?)dup http://identifiers.org/clinvar/253557 ^@ NC_000024.9:g.(?_16188682)_(59349649_?)del http://identifiers.org/clinvar/253558 ^@ NC_000015.9:g.(?_20190548)_(32917857_?)dup http://identifiers.org/clinvar/253559 ^@ NC_000022.10:g.(?_40425714)_(51220961_?)dup http://identifiers.org/clinvar/253560 ^@ NC_000015.9:g.(?_72958539)_(75569605_?)del http://identifiers.org/clinvar/253561 ^@ NC_000009.11:g.(?_75161655)_(75429310_?)del http://identifiers.org/clinvar/253562 ^@ NC_000004.11:g.(?_39478387)_(39478807_?)del http://identifiers.org/clinvar/253563 ^@ NC_000010.10:g.(?_46242057)_(51595050_?)dup http://identifiers.org/clinvar/253564 ^@ NC_000001.10:g.(?_145387945)_(145735385_?)del http://identifiers.org/clinvar/253565 ^@ NC_000011.9:g.(?_126631558)_(134868407_?)del http://identifiers.org/clinvar/253566 ^@ NC_000020.10:g.(?_121521)_(5564937_?)dup http://identifiers.org/clinvar/253567 ^@ NC_000017.10:g.(?_1145504)_(1445005_?)dup http://identifiers.org/clinvar/253568 ^@ NC_000007.13:g.(?_146471120)_(146471642_?)del http://identifiers.org/clinvar/253569 ^@ NC_000017.10:g.(?_14413312)_(15169915_?)dup http://identifiers.org/clinvar/253570 ^@ NC_000022.10:g.(?_18894339)_(21032422_?)dup http://identifiers.org/clinvar/253571 ^@ NC_000023.10:g.(?_70297)_(58066465_?)del http://identifiers.org/clinvar/253572 ^@ NC_000023.10:g.(?_62063537)_(155250222_?)dup http://identifiers.org/clinvar/253573 ^@ NC_000016.9:g.(?_15494600)_(16292235_?)del http://identifiers.org/clinvar/253574 ^@ NC_000004.11:g.(?_3776784)_(7361544_?)del http://identifiers.org/clinvar/253575 ^@ NC_000018.9:g.(?_58525322)_(78005236_?)dup http://identifiers.org/clinvar/253576 ^@ NC_000006.11:g.(?_165443824)_(170892302_?)del http://identifiers.org/clinvar/253577 ^@ NC_000003.11:g.(?_195690241)_(197299811_?)del http://identifiers.org/clinvar/253578 ^@ NC_000001.10:g.(?_242357208)_(246378823_?)del http://identifiers.org/clinvar/253579 ^@ NC_000023.10:g.(?_121022022)_(155211482_?)del http://identifiers.org/clinvar/253580 ^@ NC_000009.11:g.(?_13997)_(11376705_?)del http://identifiers.org/clinvar/253581 ^@ NC_000024.9:g.(?_20297)_(716832_?)del http://identifiers.org/clinvar/253582 ^@ NC_000012.11:g.(?_148034)_(34178799_?)dup http://identifiers.org/clinvar/253583 ^@ NC_000023.10:g.(?_225816)_(155234036_?)dup http://identifiers.org/clinvar/253584 ^@ NC_000017.10:g.(?_43592410)_(44249054_?)del http://identifiers.org/clinvar/253585 ^@ NC_000017.10:g.(?_14100118)_(15492444_?)dup http://identifiers.org/clinvar/253586 ^@ NC_000023.10:g.(?_31766614)_(31855217_?)del http://identifiers.org/clinvar/253587 ^@ NC_000015.9:g.(?_20848460)_(27662530_?)dup http://identifiers.org/clinvar/253588 ^@ NC_000023.10:g.(?_142174780)_(155250222_?)dup http://identifiers.org/clinvar/253589 ^@ NC_000022.10:g.(?_18661724)_(21025713_?)dup http://identifiers.org/clinvar/253590 ^@ NC_000004.11:g.(?_136912336)_(184253252_?)dup http://identifiers.org/clinvar/253591 ^@ NC_000002.11:g.(?_148717346)_(148799306_?)del http://identifiers.org/clinvar/253592 ^@ NC_000009.11:g.(?_213161)_(47212321_?)dup http://identifiers.org/clinvar/253593 ^@ NC_000002.11:g.(?_51148483)_(51314430_?)del http://identifiers.org/clinvar/253594 ^@ NC_000023.10:g.(?_31836968)_(31945018_?)del http://identifiers.org/clinvar/253595 ^@ NC_000001.10:g.(?_874455)_(2577794_?)del http://identifiers.org/clinvar/253596 ^@ NC_000005.9:g.(?_22149)_(13362684_?)del http://identifiers.org/clinvar/253597 ^@ NC_000005.9:g.(?_13461664)_(46098927_?)dup http://identifiers.org/clinvar/253598 ^@ NC_000016.9:g.(?_15494600)_(18141051_?)del http://identifiers.org/clinvar/253599 ^@ NC_000003.11:g.(?_29689082)_(34233218_?)del http://identifiers.org/clinvar/253600 ^@ NC_000023.10:g.(?_31986184)_(31986956_?)del http://identifiers.org/clinvar/253601 ^@ NC_000011.9:g.(?_119807473)_(134868407_?)del http://identifiers.org/clinvar/253602 ^@ NC_000023.10:g.(?_176426)_(155236656_?)dup http://identifiers.org/clinvar/253603 ^@ NC_000015.9:g.(?_22815306)_(28406709_?)del http://identifiers.org/clinvar/253604 ^@ NC_000021.8:g.(?_47516746)_(47556220_?)del http://identifiers.org/clinvar/253605 ^@ NC_000015.9:g.(?_72998989)_(76069787_?)dup http://identifiers.org/clinvar/253606 ^@ NC_000004.11:g.(?_119437495)_(190904301_?)dup http://identifiers.org/clinvar/253607 ^@ NC_000023.10:g.(?_69250807)_(69256658_?)del http://identifiers.org/clinvar/253608 ^@ NC_000007.13:g.(?_69892610)_(70037666_?)del http://identifiers.org/clinvar/253609 ^@ NC_000024.9:g.(?_126426)_(59353228_?)dup http://identifiers.org/clinvar/253610 ^@ NC_000023.10:g.(?_153126942)_(153141972_?)del http://identifiers.org/clinvar/253611 ^@ NC_000017.10:g.(?_15767020)_(20261250_?)dup http://identifiers.org/clinvar/253612 ^@ NC_000023.10:g.(?_71267)_(12032064_?)del http://identifiers.org/clinvar/253613 ^@ NC_000023.10:g.(?_13147668)_(155250222_?)dup http://identifiers.org/clinvar/253614 ^@ NC_000003.11:g.(?_8922160)_(12338637_?)del http://identifiers.org/clinvar/253615 ^@ NC_000023.10:g.(?_70297)_(58066465_?)dup http://identifiers.org/clinvar/253616 ^@ NC_000023.10:g.(?_62063537)_(155246643_?)dup http://identifiers.org/clinvar/253617 ^@ NC_000022.10:g.(?_35728929)_(51220961_?)dup http://identifiers.org/clinvar/253618 ^@ NC_000007.13:g.(?_45065944)_(45115876_?)del http://identifiers.org/clinvar/253619 ^@ NC_000018.9:g.(?_14316)_(15328499_?)del http://identifiers.org/clinvar/253620 ^@ NC_000018.9:g.(?_18548019)_(77954165_?)dup http://identifiers.org/clinvar/253621 ^@ NC_000016.9:g.(?_15730753)_(16276115_?)del http://identifiers.org/clinvar/253622 ^@ NC_000016.9:g.(?_72769)_(1511716_?)del http://identifiers.org/clinvar/253623 ^@ NC_000019.9:g.(?_277373)_(2555164_?)dup http://identifiers.org/clinvar/253624 ^@ NC_000023.10:g.(?_60701)_(155246271_?)dup http://identifiers.org/clinvar/253625 ^@ NC_000024.9:g.(?_10701)_(59349277_?)del http://identifiers.org/clinvar/253626 ^@ NC_000001.10:g.(?_874455)_(3177921_?)del http://identifiers.org/clinvar/253627 ^@ NC_000001.10:g.(?_146535353)_(147867793_?)dup http://identifiers.org/clinvar/253628 ^@ NC_000023.10:g.(?_118673728)_(118717682_?)del http://identifiers.org/clinvar/253629 ^@ NC_000001.10:g.(?_146542843)_(147857135_?)del http://identifiers.org/clinvar/253630 ^@ NC_000005.9:g.(?_127744084)_(127866529_?)del http://identifiers.org/clinvar/253631 ^@ NC_000016.9:g.(?_28486693)_(29043960_?)del http://identifiers.org/clinvar/253632 ^@ NC_000003.11:g.(?_52086599)_(59689209_?)del http://identifiers.org/clinvar/253633 ^@ NC_000009.11:g.(?_163131)_(38763958_?)dup http://identifiers.org/clinvar/253634 ^@ NC_000010.10:g.(?_136361)_(274777_?)del http://identifiers.org/clinvar/253635 ^@ NC_000007.13:g.(?_71968212)_(74133332_?)dup http://identifiers.org/clinvar/253636 ^@ NC_000001.10:g.(?_234050864)_(249213059_?)dup http://identifiers.org/clinvar/253637 ^@ NC_000002.11:g.(?_51148483)_(51259200_?)del http://identifiers.org/clinvar/253638 ^@ NC_000002.11:g.(?_156489430)_(182921298_?)dup http://identifiers.org/clinvar/253639 ^@ NC_000008.10:g.(?_117714768)_(119072307_?)del http://identifiers.org/clinvar/253640 ^@ NC_000003.11:g.(?_41104508)_(44636698_?)del http://identifiers.org/clinvar/253641 ^@ NC_000003.11:g.(?_193331148)_(193415325_?)del http://identifiers.org/clinvar/253642 ^@ NC_000008.10:g.(?_69955127)_(72552241_?)del http://identifiers.org/clinvar/253643 ^@ NC_000007.13:g.(?_22935369)_(32621975_?)del http://identifiers.org/clinvar/253644 ^@ NC_000018.9:g.(?_416490)_(8638370_?)dup http://identifiers.org/clinvar/253645 ^@ NC_000022.10:g.(?_34146948)_(34157735_?)del http://identifiers.org/clinvar/253646 ^@ NC_000018.9:g.(?_14316)_(10784606_?)del http://identifiers.org/clinvar/253647 ^@ NC_000020.10:g.(?_80198)_(26075841_?)dup http://identifiers.org/clinvar/253648 ^@ NC_000017.10:g.(?_16654302)_(20261250_?)del http://identifiers.org/clinvar/253649 ^@ NC_000016.9:g.(?_2096989)_(2100568_?)del http://identifiers.org/clinvar/253650 ^@ NC_000023.10:g.(?_152993910)_(153555804_?)dup http://identifiers.org/clinvar/253651 ^@ NC_000023.10:g.(?_153126942)_(153141190_?)del http://identifiers.org/clinvar/253652 ^@ NC_000023.10:g.(?_71267)_(155246643_?)dup http://identifiers.org/clinvar/253653 ^@ NC_000024.9:g.(?_100002)_(59353228_?)dup http://identifiers.org/clinvar/253654 ^@ NC_000001.10:g.(?_197811907)_(228997888_?)dup http://identifiers.org/clinvar/253655 ^@ NC_000003.11:g.(?_186291045)_(191037240_?)del http://identifiers.org/clinvar/253656 ^@ NC_000018.9:g.(?_163323)_(14103971_?)del http://identifiers.org/clinvar/253657 ^@ NC_000022.10:g.(?_18894339)_(20255154_?)del http://identifiers.org/clinvar/253658 ^@ NC_000006.11:g.(?_180959)_(2180143_?)del http://identifiers.org/clinvar/253659 ^@ NC_000014.8:g.(?_19794561)_(27768254_?)dup http://identifiers.org/clinvar/253660 ^@ NC_000002.11:g.(?_166094617)_(166931348_?)dup http://identifiers.org/clinvar/253661 ^@ NC_000010.10:g.(?_46491169)_(51081560_?)del http://identifiers.org/clinvar/253662 ^@ NC_000023.10:g.(?_41485589)_(41486197_?)del http://identifiers.org/clinvar/253663 ^@ NC_000008.10:g.(?_6263102)_(6500749_?)dup http://identifiers.org/clinvar/253664 ^@ NC_000016.9:g.(?_2096989)_(2126539_?)del http://identifiers.org/clinvar/253665 ^@ NC_000023.10:g.(?_535743)_(1712586_?)del http://identifiers.org/clinvar/253666 ^@ NC_000004.11:g.(?_127233)_(8667610_?)dup http://identifiers.org/clinvar/253667 ^@ NC_000009.11:g.(?_213161)_(39092820_?)dup http://identifiers.org/clinvar/253668 ^@ NC_000002.11:g.(?_196581377)_(200947041_?)del http://identifiers.org/clinvar/253669 ^@ NC_000016.9:g.(?_29646320)_(30197341_?)dup http://identifiers.org/clinvar/253670 ^@ NC_000009.11:g.(?_213161)_(19450250_?)dup http://identifiers.org/clinvar/253671 ^@ NC_000015.9:g.(?_92197136)_(102354857_?)del http://identifiers.org/clinvar/253672 ^@ NC_000005.9:g.(?_88056500)_(88183698_?)del http://identifiers.org/clinvar/253673 ^@ NC_000002.11:g.(?_106423310)_(115054828_?)del http://identifiers.org/clinvar/253674 ^@ NC_000002.11:g.(?_161542325)_(164640864_?)del http://identifiers.org/clinvar/253675 ^@ NC_000004.11:g.(?_162344510)_(177103037_?)del http://identifiers.org/clinvar/253676 ^@ NC_000004.11:g.(?_185941418)_(189180194_?)del http://identifiers.org/clinvar/253677 ^@ NC_000004.11:g.(?_94015225)_(94113162_?)del http://identifiers.org/clinvar/253678 ^@ NC_000006.11:g.(?_34482666)_(34949939_?)dup http://identifiers.org/clinvar/253679 ^@ NC_000002.11:g.(?_200776457)_(203070949_?)dup http://identifiers.org/clinvar/253680 ^@ NC_000010.10:g.(?_1772803)_(3111523_?)dup http://identifiers.org/clinvar/253681 ^@ NC_000001.10:g.(?_15334318)_(15771284_?)dup http://identifiers.org/clinvar/253682 ^@ NC_000009.11:g.(?_116978042)_(117187294_?)del http://identifiers.org/clinvar/253683 ^@ NC_000017.10:g.(?_3392623)_(3663528_?)dup http://identifiers.org/clinvar/253684 ^@ NC_000023.10:g.(?_151903225)_(152226301_?)dup http://identifiers.org/clinvar/253685 ^@ NC_000017.10:g.(?_40764524)_(40775621_?)dup http://identifiers.org/clinvar/253686 ^@ NC_000002.11:g.(?_60405806)_(62442792_?)dup http://identifiers.org/clinvar/253687 ^@ NC_000015.9:g.(?_22815306)_(23086303_?)del http://identifiers.org/clinvar/253688 ^@ NC_000016.9:g.(?_2188712)_(2580690_?)dup http://identifiers.org/clinvar/253689 ^@ NC_000013.10:g.(?_67958451)_(71515304_?)dup http://identifiers.org/clinvar/253690 ^@ NC_000015.9:g.(?_22698522)_(23059487_?)del http://identifiers.org/clinvar/253691 ^@ NC_000001.10:g.(?_46104013)_(46598046_?)dup http://identifiers.org/clinvar/253692 ^@ NC_000010.10:g.(?_103208804)_(103431259_?)dup http://identifiers.org/clinvar/253693 ^@ NC_000007.13:g.(?_99724620)_(99972850_?)dup http://identifiers.org/clinvar/253694 ^@ NC_000007.13:g.(?_100980697)_(101577640_?)dup http://identifiers.org/clinvar/253695 ^@ NC_000020.10:g.(?_3026868)_(3657453_?)dup http://identifiers.org/clinvar/253696 ^@ NC_000012.11:g.(?_13102483)_(13804704_?)dup http://identifiers.org/clinvar/253697 ^@ NC_000017.10:g.(?_10408794)_(10426551_?)del http://identifiers.org/clinvar/253698 ^@ NC_000023.10:g.(?_13568142)_(13833518_?)dup http://identifiers.org/clinvar/253699 ^@ NC_000006.11:g.(?_17637157)_(18931615_?)dup http://identifiers.org/clinvar/253700 ^@ NC_000006.11:g.(?_32052479)_(32184403_?)dup http://identifiers.org/clinvar/253701 ^@ NC_000017.10:g.(?_1235754)_(1261369_?)dup http://identifiers.org/clinvar/253702 ^@ NC_000017.10:g.(?_901963)_(1193424_?)dup http://identifiers.org/clinvar/253703 ^@ NC_000023.10:g.(?_69455964)_(69509119_?)dup http://identifiers.org/clinvar/253704 ^@ NC_000023.10:g.(?_43752453)_(43834126_?)dup http://identifiers.org/clinvar/253705 ^@ NC_000005.9:g.(?_109438167)_(110644401_?)dup http://identifiers.org/clinvar/253706 ^@ NC_000013.10:g.(?_60346337)_(60439363_?)del http://identifiers.org/clinvar/253707 ^@ NC_000011.9:g.(?_193142)_(299384_?)dup http://identifiers.org/clinvar/253708 ^@ NC_000005.9:g.(?_94319893)_(95158593_?)dup http://identifiers.org/clinvar/253709 ^@ NC_000016.9:g.(?_15494600)_(16327230_?)dup http://identifiers.org/clinvar/253710 ^@ NC_000002.11:g.(?_159479568)_(160033905_?)dup http://identifiers.org/clinvar/253711 ^@ NC_000011.9:g.(?_31311902)_(31349768_?)del http://identifiers.org/clinvar/253712 ^@ NC_000019.9:g.(?_17392434)_(17449187_?)del http://identifiers.org/clinvar/253713 ^@ NC_000012.11:g.(?_15034827)_(15677320_?)del http://identifiers.org/clinvar/253714 ^@ NC_000012.11:g.(?_40624939)_(40760534_?)del http://identifiers.org/clinvar/253715 ^@ NC_000016.9:g.(?_8875248)_(9211047_?)dup http://identifiers.org/clinvar/253716 ^@ NC_000023.10:g.(?_38422882)_(38957351_?)dup http://identifiers.org/clinvar/253717 ^@ NC_000015.9:g.(?_22815306)_(23217514_?)del http://identifiers.org/clinvar/253718 ^@ NC_000012.11:g.(?_80945046)_(81113470_?)del http://identifiers.org/clinvar/253719 ^@ NC_000022.10:g.(?_20958986)_(21440514_?)dup http://identifiers.org/clinvar/253720 ^@ NC_000016.9:g.(?_21968752)_(22407931_?)del http://identifiers.org/clinvar/253721 ^@ NC_000002.11:g.(?_239795385)_(240302186_?)dup http://identifiers.org/clinvar/253722 ^@ NC_000015.9:g.(?_22815306)_(23191062_?)del http://identifiers.org/clinvar/253723 ^@ NC_000023.10:g.(?_605776)_(1252566_?)dup http://identifiers.org/clinvar/253724 ^@ NC_000003.11:g.(?_180702567)_(180703988_?)del http://identifiers.org/clinvar/253725 ^@ NC_000023.10:g.(?_65813415)_(65987187_?)del http://identifiers.org/clinvar/253726 ^@ NC_000015.9:g.(?_22815306)_(23059487_?)del http://identifiers.org/clinvar/253727 ^@ NC_000001.10:g.(?_1770754)_(1989014_?)dup http://identifiers.org/clinvar/253728 ^@ NC_000014.8:g.(?_105259639)_(105523673_?)del http://identifiers.org/clinvar/253729 ^@ NC_000016.9:g.(?_3104050)_(3722491_?)dup http://identifiers.org/clinvar/253730 ^@ NC_000016.9:g.(?_15939427)_(15979664_?)dup http://identifiers.org/clinvar/253731 ^@ NC_000019.9:g.(?_5680833)_(5739465_?)dup http://identifiers.org/clinvar/253732 ^@ NC_000009.11:g.(?_140712794)_(141018984_?)dup http://identifiers.org/clinvar/253733 ^@ NC_000017.10:g.(?_1409783)_(1857577_?)del http://identifiers.org/clinvar/253734 ^@ NC_000001.10:g.(?_19809419)_(20418333_?)dup http://identifiers.org/clinvar/253735 ^@ NC_000018.9:g.(?_3211217)_(3469928_?)dup http://identifiers.org/clinvar/253736 ^@ NC_000009.11:g.(?_131622711)_(131689418_?)del http://identifiers.org/clinvar/253737 ^@ NC_000023.10:g.(?_7153846)_(7469635_?)dup http://identifiers.org/clinvar/253738 ^@ NC_000013.10:g.(?_32666415)_(33109392_?)dup http://identifiers.org/clinvar/253739 ^@ NC_000022.10:g.(?_18411443)_(18650708_?)dup http://identifiers.org/clinvar/253740 ^@ NC_000011.9:g.(?_120959042)_(121501131_?)dup http://identifiers.org/clinvar/253741 ^@ NC_000007.13:g.(?_6202675)_(6579535_?)dup http://identifiers.org/clinvar/253742 ^@ NC_000002.11:g.(?_208986369)_(208989316_?)dup http://identifiers.org/clinvar/253743 ^@ NC_000011.9:g.(?_2181002)_(2182229_?)del http://identifiers.org/clinvar/253744 ^@ NC_000011.9:g.(?_31555743)_(31561481_?)del http://identifiers.org/clinvar/253745 ^@ NC_000019.9:g.(?_54082353)_(54486105_?)dup http://identifiers.org/clinvar/253746 ^@ NC_000001.10:g.(?_237205045)_(237519680_?)dup http://identifiers.org/clinvar/253747 ^@ NC_000017.10:g.(?_75468978)_(75556850_?)dup http://identifiers.org/clinvar/253748 ^@ NC_000019.9:g.(?_54280799)_(54486105_?)dup http://identifiers.org/clinvar/253749 ^@ NC_000003.11:g.(?_9518530)_(9547865_?)dup http://identifiers.org/clinvar/253750 ^@ NC_000017.10:g.(?_19566664)_(19845308_?)dup http://identifiers.org/clinvar/253751 ^@ NC_000002.11:g.(?_86269067)_(86509326_?)dup http://identifiers.org/clinvar/253752 ^@ NC_000009.11:g.(?_71661284)_(71821182_?)dup http://identifiers.org/clinvar/253753 ^@ NC_000016.9:g.(?_87687199)_(89304429_?)dup http://identifiers.org/clinvar/253754 ^@ NC_000010.10:g.(?_102747410)_(102754099_?)dup http://identifiers.org/clinvar/253755 ^@ NC_000016.9:g.(?_450686)_(1007236_?)dup http://identifiers.org/clinvar/253756 ^@ NC_000022.10:g.(?_42207144)_(42776457_?)del http://identifiers.org/clinvar/253757 ^@ NC_000023.10:g.(?_70459474)_(70654410_?)dup http://identifiers.org/clinvar/253758 ^@ NC_000007.13:g.(?_55874737)_(56172217_?)del http://identifiers.org/clinvar/253759 ^@ NC_000020.10:g.(?_25039251)_(26067042_?)dup http://identifiers.org/clinvar/253760 ^@ NC_000001.10:g.(?_28292253)_(28969539_?)dup http://identifiers.org/clinvar/253761 ^@ NC_000015.9:g.(?_101645331)_(102263418_?)dup http://identifiers.org/clinvar/253762 ^@ NC_000016.9:g.(?_89836157)_(90127980_?)del http://identifiers.org/clinvar/253763 ^@ NC_000002.11:g.(?_160652699)_(161149794_?)dup http://identifiers.org/clinvar/253764 ^@ NC_000009.11:g.(?_134353309)_(134839944_?)dup http://identifiers.org/clinvar/253765 ^@ NC_000011.9:g.(?_3629393)_(4111738_?)dup http://identifiers.org/clinvar/253766 ^@ NC_000019.9:g.(?_36475577)_(38399402_?)dup http://identifiers.org/clinvar/253767 ^@ NC_000006.11:g.(?_152613587)_(152772375_?)del http://identifiers.org/clinvar/253768 ^@ NC_000016.9:g.(?_3273336)_(3361764_?)dup http://identifiers.org/clinvar/253769 ^@ NC_000003.11:g.(?_67617261)_(68950039_?)del http://identifiers.org/clinvar/253770 ^@ NC_000002.11:g.(?_55910804)_(55921261_?)dup http://identifiers.org/clinvar/253771 ^@ NC_000016.9:g.(?_23533522)_(23563732_?)dup http://identifiers.org/clinvar/253772 ^@ NC_000003.11:g.(?_119188677)_(119500810_?)dup http://identifiers.org/clinvar/253773 ^@ NC_000012.11:g.(?_122676019)_(122710016_?)del http://identifiers.org/clinvar/253774 ^@ NC_000015.9:g.(?_85146993)_(85671005_?)del http://identifiers.org/clinvar/253775 ^@ NC_000005.9:g.(?_10364492)_(11324670_?)dup http://identifiers.org/clinvar/253776 ^@ NC_000019.9:g.(?_45284576)_(45978239_?)dup http://identifiers.org/clinvar/253777 ^@ NC_000011.9:g.(?_3898872)_(4853895_?)del http://identifiers.org/clinvar/253778 ^@ NC_000018.9:g.(?_77474454)_(77875481_?)dup http://identifiers.org/clinvar/253779 ^@ NC_000011.9:g.(?_101450649)_(102064511_?)dup http://identifiers.org/clinvar/253780 ^@ NC_000009.11:g.(?_71395668)_(71944494_?)dup http://identifiers.org/clinvar/253781 ^@ NC_000013.10:g.(?_60552857)_(60623488_?)del http://identifiers.org/clinvar/253782 ^@ NC_000008.10:g.(?_145603153)_(145811230_?)dup http://identifiers.org/clinvar/253783 ^@ NC_000001.10:g.(?_212859808)_(213336495_?)dup http://identifiers.org/clinvar/253784 ^@ NC_000003.11:g.(?_93592858)_(93747377_?)dup http://identifiers.org/clinvar/253785 ^@ NC_000012.11:g.(?_6442218)_(6456388_?)dup http://identifiers.org/clinvar/253786 ^@ NC_000016.9:g.(?_29822122)_(29826328_?)dup http://identifiers.org/clinvar/253787 ^@ NC_000001.10:g.(?_45953923)_(46126722_?)dup http://identifiers.org/clinvar/253788 ^@ NC_000006.11:g.(?_119442943)_(121506177_?)del http://identifiers.org/clinvar/253789 ^@ NC_000012.11:g.(?_90910083)_(91560392_?)dup http://identifiers.org/clinvar/253790 ^@ NC_000002.11:g.(?_39293817)_(39649180_?)dup http://identifiers.org/clinvar/253791 ^@ NC_000013.10:g.(?_60439304)_(60661474_?)dup http://identifiers.org/clinvar/253792 ^@ NC_000018.9:g.(?_21430733)_(22265398_?)dup http://identifiers.org/clinvar/253793 ^@ NC_000007.13:g.(?_98985840)_(99171421_?)dup http://identifiers.org/clinvar/253794 ^@ NC_000003.11:g.(?_58494677)_(60076736_?)dup http://identifiers.org/clinvar/253795 ^@ NC_000015.9:g.(?_25655533)_(25691566_?)del http://identifiers.org/clinvar/253796 ^@ NC_000009.11:g.(?_119449044)_(119952215_?)del http://identifiers.org/clinvar/253797 ^@ NC_000016.9:g.(?_15507184)_(16315198_?)dup http://identifiers.org/clinvar/253798 ^@ NC_000016.9:g.(?_15489920)_(16327230_?)dup http://identifiers.org/clinvar/253799 ^@ NC_000005.9:g.(?_169724500)_(170051199_?)dup http://identifiers.org/clinvar/253800 ^@ NC_000023.10:g.(?_106791412)_(107059976_?)dup http://identifiers.org/clinvar/253801 ^@ NC_000003.11:g.(?_65634239)_(66656496_?)dup http://identifiers.org/clinvar/253802 ^@ NC_000007.13:g.(?_1004794)_(4063934_?)dup http://identifiers.org/clinvar/253803 ^@ NC_000008.10:g.(?_37555526)_(38600788_?)dup http://identifiers.org/clinvar/253804 ^@ NC_000011.9:g.(?_680365)_(827724_?)dup http://identifiers.org/clinvar/253805 ^@ NC_000015.9:g.(?_66643638)_(66745287_?)del http://identifiers.org/clinvar/253806 ^@ NC_000017.10:g.(?_48858)_(902021_?)del http://identifiers.org/clinvar/253807 ^@ NC_000016.9:g.(?_216724)_(340009_?)dup http://identifiers.org/clinvar/253808 ^@ NC_000003.11:g.(?_81307181)_(86030178_?)dup http://identifiers.org/clinvar/253809 ^@ NC_000016.9:g.(?_239130)_(841725_?)dup http://identifiers.org/clinvar/253810 ^@ NC_000006.11:g.(?_48682849)_(49834213_?)dup http://identifiers.org/clinvar/253811 ^@ NC_000011.9:g.(?_66024774)_(67430781_?)dup http://identifiers.org/clinvar/253812 ^@ NC_000016.9:g.(?_15501629)_(16327230_?)dup http://identifiers.org/clinvar/253813 ^@ NC_000016.9:g.(?_21976691)_(22407931_?)del http://identifiers.org/clinvar/253814 ^@ NC_000002.11:g.(?_30371106)_(31490282_?)dup http://identifiers.org/clinvar/253815 ^@ NC_000004.11:g.(?_120057666)_(120107431_?)dup http://identifiers.org/clinvar/253816 ^@ NC_000017.10:g.(?_29782998)_(30651260_?)del http://identifiers.org/clinvar/253817 ^@ NC_000006.11:g.(?_83753213)_(84004063_?)dup http://identifiers.org/clinvar/253818 ^@ NC_000006.11:g.(?_161625929)_(161812380_?)dup http://identifiers.org/clinvar/253819 ^@ NC_000010.10:g.(?_98941691)_(99153357_?)dup http://identifiers.org/clinvar/253820 ^@ NC_000016.9:g.(?_11173868)_(11681288_?)dup http://identifiers.org/clinvar/253821 ^@ NC_000016.9:g.(?_89495333)_(89592922_?)dup http://identifiers.org/clinvar/253822 ^@ NC_000002.11:g.(?_55910769)_(55921261_?)dup http://identifiers.org/clinvar/253823 ^@ NC_000021.8:g.(?_46624646)_(46923814_?)dup http://identifiers.org/clinvar/253824 ^@ NC_000016.9:g.(?_14910205)_(16327230_?)dup http://identifiers.org/clinvar/253825 ^@ NC_000023.10:g.(?_152925866)_(153032459_?)dup http://identifiers.org/clinvar/253826 ^@ NC_000021.8:g.(?_40802860)_(41301131_?)dup http://identifiers.org/clinvar/253827 ^@ NC_000019.9:g.(?_58458999)_(58929684_?)dup http://identifiers.org/clinvar/253828 ^@ NC_000012.11:g.(?_133091631)_(133393167_?)dup http://identifiers.org/clinvar/253829 ^@ NC_000003.11:g.(?_53831630)_(53857351_?)dup http://identifiers.org/clinvar/253830 ^@ NC_000013.10:g.(?_91209639)_(94704856_?)dup http://identifiers.org/clinvar/253831 ^@ NC_000010.10:g.(?_118327326)_(118486839_?)del http://identifiers.org/clinvar/253832 ^@ NC_000007.13:g.(?_83817339)_(84709685_?)dup http://identifiers.org/clinvar/253833 ^@ NC_000007.13:g.(?_145729334)_(146017091_?)dup http://identifiers.org/clinvar/253834 ^@ NC_000011.9:g.(?_31531033)_(31541745_?)del http://identifiers.org/clinvar/253835 ^@ NC_000001.10:g.(?_155412745)_(155755215_?)dup http://identifiers.org/clinvar/253836 ^@ NC_000014.8:g.(?_67347852)_(67417278_?)del http://identifiers.org/clinvar/253837 ^@ NC_000011.9:g.(?_63230830)_(63342467_?)dup http://identifiers.org/clinvar/253838 ^@ NC_000002.11:g.(?_106929257)_(108507183_?)del http://identifiers.org/clinvar/253839 ^@ NC_000014.8:g.(?_78146198)_(79579273_?)dup http://identifiers.org/clinvar/253840 ^@ NC_000019.9:g.(?_13802749)_(14003761_?)dup http://identifiers.org/clinvar/253841 ^@ NC_000021.8:g.(?_38808582)_(38918599_?)dup http://identifiers.org/clinvar/253842 ^@ NC_000016.9:g.(?_61828999)_(61962694_?)dup http://identifiers.org/clinvar/253843 ^@ NC_000023.10:g.(?_2576743)_(2951072_?)dup http://identifiers.org/clinvar/253844 ^@ NC_000009.11:g.(?_869845)_(986333_?)dup http://identifiers.org/clinvar/253845 ^@ NC_000004.11:g.(?_62910103)_(66106762_?)dup http://identifiers.org/clinvar/253846 ^@ NC_000004.11:g.(?_586039)_(964873_?)dup http://identifiers.org/clinvar/253847 ^@ NC_000016.9:g.(?_88825321)_(88860473_?)dup http://identifiers.org/clinvar/253848 ^@ NC_000002.11:g.(?_149811293)_(151128706_?)dup http://identifiers.org/clinvar/253849 ^@ NC_000012.11:g.(?_1555573)_(2655985_?)dup http://identifiers.org/clinvar/253850 ^@ NC_000003.11:g.(?_93617407)_(93747377_?)dup http://identifiers.org/clinvar/253851 ^@ NC_000019.9:g.(?_55665527)_(55692769_?)dup http://identifiers.org/clinvar/253852 ^@ NC_000009.11:g.(?_140550908)_(140757122_?)dup http://identifiers.org/clinvar/253853 ^@ NC_000008.10:g.(?_10815348)_(11860230_?)dup http://identifiers.org/clinvar/253854 ^@ NC_000002.11:g.(?_121635607)_(121732989_?)dup http://identifiers.org/clinvar/253855 ^@ NC_000008.10:g.(?_117845995)_(117878859_?)dup http://identifiers.org/clinvar/253856 ^@ NC_000015.9:g.(?_22815306)_(23198655_?)del http://identifiers.org/clinvar/253857 ^@ NC_000019.9:g.(?_17001280)_(17536087_?)dup http://identifiers.org/clinvar/253858 ^@ NC_000011.9:g.(?_8060216)_(8637954_?)dup http://identifiers.org/clinvar/253859 ^@ NC_000007.13:g.(?_22766756)_(23053688_?)del http://identifiers.org/clinvar/253860 ^@ NC_000003.11:g.(?_191413759)_(193081037_?)del http://identifiers.org/clinvar/253861 ^@ NC_000015.9:g.(?_75562397)_(76030552_?)dup http://identifiers.org/clinvar/253862 ^@ NC_000012.11:g.(?_4872405)_(5347944_?)dup http://identifiers.org/clinvar/253863 ^@ NC_000003.11:g.(?_158361184)_(158410354_?)dup http://identifiers.org/clinvar/253864 ^@ NC_000010.10:g.(?_75010165)_(75013328_?)dup http://identifiers.org/clinvar/253865 ^@ NC_000017.10:g.(?_21308559)_(26655801_?)dup http://identifiers.org/clinvar/253866 ^@ NC_000023.10:g.(?_146977059)_(147106579_?)dup http://identifiers.org/clinvar/253867 ^@ NC_000001.10:g.(?_12052305)_(12057623_?)dup http://identifiers.org/clinvar/253868 ^@ NC_000013.10:g.(?_28122430)_(28255931_?)dup http://identifiers.org/clinvar/253869 ^@ NC_000023.10:g.(?_48336513)_(48554390_?)dup http://identifiers.org/clinvar/253870 ^@ NC_000009.11:g.(?_214254)_(433906_?)dup http://identifiers.org/clinvar/253871 ^@ NC_000023.10:g.(?_91038450)_(96024832_?)del http://identifiers.org/clinvar/253872 ^@ NC_000019.9:g.(?_55392342)_(55574857_?)dup http://identifiers.org/clinvar/253873 ^@ NC_000011.9:g.(?_31312348)_(31454239_?)del http://identifiers.org/clinvar/253874 ^@ NC_000016.9:g.(?_1860861)_(2070554_?)dup http://identifiers.org/clinvar/253875 ^@ NC_000010.10:g.(?_70178856)_(70396017_?)dup http://identifiers.org/clinvar/253876 ^@ NC_000011.9:g.(?_532230)_(699463_?)dup http://identifiers.org/clinvar/253877 ^@ NC_000005.9:g.(?_61573104)_(62071310_?)dup http://identifiers.org/clinvar/253878 ^@ NC_000002.11:g.(?_1151154)_(1500627_?)del http://identifiers.org/clinvar/253879 ^@ NC_000003.11:g.(?_270649)_(431897_?)del http://identifiers.org/clinvar/253880 ^@ NC_000023.10:g.(?_152912867)_(153236360_?)dup http://identifiers.org/clinvar/253881 ^@ NC_000010.10:g.(?_85140044)_(86242493_?)dup http://identifiers.org/clinvar/253882 ^@ NC_000012.11:g.(?_111965765)_(112147523_?)del http://identifiers.org/clinvar/253883 ^@ NC_000008.10:g.(?_117649533)_(117863721_?)dup http://identifiers.org/clinvar/253884 ^@ NC_000002.11:g.(?_19726367)_(20251569_?)dup http://identifiers.org/clinvar/253885 ^@ NC_000002.11:g.(?_241656421)_(241709397_?)dup http://identifiers.org/clinvar/253886 ^@ NC_000001.10:g.(?_144674799)_(145735385_?)dup http://identifiers.org/clinvar/253887 ^@ NC_000019.9:g.(?_48876760)_(49053557_?)dup http://identifiers.org/clinvar/253888 ^@ NC_000017.10:g.(?_290384)_(1172699_?)del http://identifiers.org/clinvar/253889 ^@ NC_000010.10:g.(?_18794238)_(18834881_?)dup http://identifiers.org/clinvar/253890 ^@ NC_000010.10:g.(?_124593422)_(125010666_?)dup http://identifiers.org/clinvar/253891 ^@ NC_000023.10:g.(?_69645273)_(69674366_?)dup http://identifiers.org/clinvar/253892 ^@ NC_000016.9:g.(?_15489920)_(18141051_?)dup http://identifiers.org/clinvar/253893 ^@ NC_000001.10:g.(?_2785042)_(3265702_?)del http://identifiers.org/clinvar/253894 ^@ NC_000014.8:g.(?_20978713)_(21575128_?)dup http://identifiers.org/clinvar/253895 ^@ NC_000009.11:g.(?_117666205)_(119059572_?)dup http://identifiers.org/clinvar/253896 ^@ NC_000016.9:g.(?_6266578)_(7008383_?)del http://identifiers.org/clinvar/253897 ^@ NC_000008.10:g.(?_1884876)_(1993327_?)dup http://identifiers.org/clinvar/253898 ^@ NC_000016.9:g.(?_15507184)_(16306653_?)dup http://identifiers.org/clinvar/253899 ^@ NC_000017.10:g.(?_1061693)_(1264288_?)dup http://identifiers.org/clinvar/253900 ^@ NC_000023.10:g.(?_129863980)_(130725078_?)dup http://identifiers.org/clinvar/253901 ^@ NC_000016.9:g.(?_83496909)_(84695933_?)del http://identifiers.org/clinvar/253902 ^@ NC_000022.10:g.(?_21056165)_(21440514_?)dup http://identifiers.org/clinvar/253903 ^@ NC_000010.10:g.(?_99435773)_(99590136_?)dup http://identifiers.org/clinvar/253904 ^@ NC_000013.10:g.(?_23671134)_(25009594_?)dup http://identifiers.org/clinvar/253905 ^@ NC_000006.11:g.(?_10489661)_(10725195_?)del http://identifiers.org/clinvar/253906 ^@ NC_000001.10:g.(?_226871745)_(229906954_?)del http://identifiers.org/clinvar/253907 ^@ NC_000001.10:g.(?_113213652)_(113947403_?)dup http://identifiers.org/clinvar/253908 ^@ NC_000004.11:g.(?_177242181)_(177649158_?)dup http://identifiers.org/clinvar/253909 ^@ NC_000023.10:g.(?_74494014)_(74649521_?)dup http://identifiers.org/clinvar/253910 ^@ NC_000015.9:g.(?_90220524)_(90265367_?)del http://identifiers.org/clinvar/253911 ^@ NC_000022.10:g.(?_36623928)_(36677639_?)dup http://identifiers.org/clinvar/253912 ^@ NC_000007.13:g.(?_146498890)_(146636249_?)dup http://identifiers.org/clinvar/253913 ^@ NC_000022.10:g.(?_24132414)_(24256480_?)dup http://identifiers.org/clinvar/253914 ^@ NC_000017.10:g.(?_14110043)_(14111913_?)dup http://identifiers.org/clinvar/253915 ^@ NC_000001.10:g.(?_244138107)_(244509450_?)dup http://identifiers.org/clinvar/253916 ^@ NC_000001.10:g.(?_2825682)_(3235959_?)del http://identifiers.org/clinvar/253917 ^@ NC_000019.9:g.(?_1952590)_(2698712_?)dup http://identifiers.org/clinvar/253918 ^@ NC_000004.11:g.(?_95492115)_(96061295_?)dup http://identifiers.org/clinvar/253919 ^@ NC_000023.10:g.(?_62862203)_(63490522_?)dup http://identifiers.org/clinvar/253920 ^@ NC_000007.13:g.(?_6426906)_(6457236_?)del http://identifiers.org/clinvar/253921 ^@ NC_000014.8:g.(?_21520503)_(21878421_?)dup http://identifiers.org/clinvar/253922 ^@ NC_000015.9:g.(?_45654063)_(45671785_?)dup http://identifiers.org/clinvar/253923 ^@ NC_000015.9:g.(?_44484701)_(47475522_?)del http://identifiers.org/clinvar/253924 ^@ NC_000019.9:g.(?_52825019)_(53017595_?)del http://identifiers.org/clinvar/253925 ^@ NC_000016.9:g.(?_6266578)_(6388707_?)del http://identifiers.org/clinvar/253926 ^@ NC_000016.9:g.(?_21817619)_(22407931_?)del http://identifiers.org/clinvar/253927 ^@ NC_000004.11:g.(?_159047068)_(159600690_?)dup http://identifiers.org/clinvar/253928 ^@ NC_000023.10:g.(?_23693142)_(24483640_?)dup http://identifiers.org/clinvar/253929 ^@ NC_000023.10:g.(?_614422)_(1347337_?)dup http://identifiers.org/clinvar/253930 ^@ NC_000024.9:g.(?_564422)_(1297337_?)dup http://identifiers.org/clinvar/253931 ^@ NC_000011.9:g.(?_102064452)_(102249344_?)dup http://identifiers.org/clinvar/253932 ^@ NC_000006.11:g.(?_2101382)_(2769146_?)dup http://identifiers.org/clinvar/253933 ^@ NC_000015.9:g.(?_45059827)_(45725363_?)dup http://identifiers.org/clinvar/253934 ^@ NC_000001.10:g.(?_213123908)_(213423221_?)del http://identifiers.org/clinvar/253935 ^@ NC_000001.10:g.(?_147111289)_(147482311_?)dup http://identifiers.org/clinvar/253936 ^@ NC_000016.9:g.(?_5961277)_(6149386_?)del http://identifiers.org/clinvar/253937 ^@ NC_000013.10:g.(?_114768042)_(115092569_?)del http://identifiers.org/clinvar/253938 ^@ NC_000023.10:g.(?_63444185)_(64403521_?)dup http://identifiers.org/clinvar/253939 ^@ NC_000015.9:g.(?_20848460)_(23191062_?)del http://identifiers.org/clinvar/253940 ^@ NC_000011.9:g.(?_134019210)_(134746628_?)dup http://identifiers.org/clinvar/253941 ^@ NC_000014.8:g.(?_78146198)_(78504237_?)dup http://identifiers.org/clinvar/253942 ^@ NC_000023.10:g.(?_193483)_(571339_?)dup http://identifiers.org/clinvar/253943 ^@ NC_000014.8:g.(?_24768556)_(24781268_?)dup http://identifiers.org/clinvar/253944 ^@ NC_000016.9:g.(?_89696893)_(90103214_?)dup http://identifiers.org/clinvar/253945 ^@ NC_000005.9:g.(?_1460725)_(1944457_?)del http://identifiers.org/clinvar/253946 ^@ NC_000023.10:g.(?_16997258)_(17701223_?)dup http://identifiers.org/clinvar/253947 ^@ NC_000019.9:g.(?_17514059)_(17899363_?)dup http://identifiers.org/clinvar/253948 ^@ NC_000023.10:g.(?_32620055)_(33514149_?)dup http://identifiers.org/clinvar/253949 ^@ NC_000023.10:g.(?_24006637)_(25035452_?)dup http://identifiers.org/clinvar/253950 ^@ NC_000023.10:g.(?_225816)_(809572_?)dup http://identifiers.org/clinvar/253951 ^@ NC_000017.10:g.(?_1061693)_(1256253_?)dup http://identifiers.org/clinvar/253952 ^@ NC_000017.10:g.(?_17496888)_(17599850_?)dup http://identifiers.org/clinvar/253953 ^@ NC_000016.9:g.(?_3273336)_(3350698_?)dup http://identifiers.org/clinvar/253954 ^@ NC_000023.10:g.(?_64927267)_(69276852_?)dup http://identifiers.org/clinvar/253955 ^@ NC_000015.9:g.(?_78819698)_(79064139_?)dup http://identifiers.org/clinvar/253956 ^@ NC_000015.9:g.(?_82133231)_(83455333_?)dup http://identifiers.org/clinvar/253957 ^@ NC_000016.9:g.(?_6757184)_(7102232_?)dup http://identifiers.org/clinvar/253958 ^@ NC_000016.9:g.(?_89623304)_(89624182_?)dup http://identifiers.org/clinvar/253959 ^@ NC_000003.11:g.(?_39449057)_(39453982_?)dup http://identifiers.org/clinvar/253960 ^@ NC_000016.9:g.(?_21968752)_(22407931_?)dup http://identifiers.org/clinvar/253961 ^@ NC_000006.11:g.(?_52302945)_(52319369_?)dup http://identifiers.org/clinvar/253962 ^@ NC_000001.10:g.(?_233234142)_(234435116_?)dup http://identifiers.org/clinvar/253963 ^@ NC_000008.10:g.(?_10444735)_(10828411_?)dup http://identifiers.org/clinvar/253964 ^@ NC_000023.10:g.(?_524370)_(591887_?)dup http://identifiers.org/clinvar/253965 ^@ NC_000023.10:g.(?_460130)_(1008586_?)dup http://identifiers.org/clinvar/253966 ^@ NC_000012.11:g.(?_915106)_(1577381_?)dup http://identifiers.org/clinvar/253967 ^@ NC_000012.11:g.(?_32896340)_(32906926_?)dup http://identifiers.org/clinvar/253968 ^@ NC_000011.9:g.(?_1774508)_(1785629_?)dup http://identifiers.org/clinvar/253969 ^@ NC_000018.9:g.(?_23923277)_(24089282_?)dup http://identifiers.org/clinvar/253970 ^@ NC_000001.10:g.(?_244229113)_(244452045_?)dup http://identifiers.org/clinvar/253971 ^@ NC_000023.10:g.(?_64139334)_(64589683_?)dup http://identifiers.org/clinvar/253972 ^@ NC_000011.9:g.(?_5248267)_(5255227_?)dup http://identifiers.org/clinvar/253973 ^@ NC_000004.11:g.(?_146210804)_(146816268_?)del http://identifiers.org/clinvar/253974 ^@ NC_000016.9:g.(?_69986596)_(70316676_?)dup http://identifiers.org/clinvar/253975 ^@ NC_000021.8:g.(?_44264486)_(45945979_?)del http://identifiers.org/clinvar/253976 ^@ NC_000011.9:g.(?_27407012)_(28000144_?)dup http://identifiers.org/clinvar/253977 ^@ NC_000008.10:g.(?_143762893)_(143867731_?)dup http://identifiers.org/clinvar/253978 ^@ NC_000020.10:g.(?_241301)_(584723_?)dup http://identifiers.org/clinvar/253979 ^@ NC_000016.9:g.(?_21806299)_(22407931_?)del http://identifiers.org/clinvar/253980 ^@ NC_000017.10:g.(?_78041640)_(78227014_?)dup http://identifiers.org/clinvar/253981 ^@ NC_000022.10:g.(?_23950632)_(24276233_?)dup http://identifiers.org/clinvar/253982 ^@ NC_000015.9:g.(?_64673133)_(65273595_?)dup http://identifiers.org/clinvar/253983 ^@ NC_000002.11:g.(?_121980816)_(122412684_?)dup http://identifiers.org/clinvar/253984 ^@ NC_000023.10:g.(?_122992963)_(123211555_?)dup http://identifiers.org/clinvar/253985 ^@ NC_000016.9:g.(?_15730753)_(16276115_?)dup http://identifiers.org/clinvar/253986 ^@ NC_000016.9:g.(?_88601532)_(89713753_?)dup http://identifiers.org/clinvar/253987 ^@ NC_000014.8:g.(?_61112483)_(61117448_?)del http://identifiers.org/clinvar/253988 ^@ NC_000023.10:g.(?_153588672)_(153613200_?)dup http://identifiers.org/clinvar/253989 ^@ NC_000006.11:g.(?_106281728)_(107019722_?)dup http://identifiers.org/clinvar/253990 ^@ NC_000019.9:g.(?_54056297)_(54327621_?)dup http://identifiers.org/clinvar/253991 ^@ NC_000023.10:g.(?_8601505)_(8703029_?)dup http://identifiers.org/clinvar/253992 ^@ NC_000003.11:g.(?_2724887)_(3529351_?)dup http://identifiers.org/clinvar/253993 ^@ NC_000001.10:g.(?_213088559)_(213423221_?)del http://identifiers.org/clinvar/253994 ^@ NC_000010.10:g.(?_85063556)_(86748808_?)dup http://identifiers.org/clinvar/253995 ^@ NC_000023.10:g.(?_6134766)_(7023927_?)dup http://identifiers.org/clinvar/253996 ^@ NC_000017.10:g.(?_73870412)_(74160099_?)dup http://identifiers.org/clinvar/253997 ^@ NC_000017.10:g.(?_1248758)_(1251720_?)dup http://identifiers.org/clinvar/253998 ^@ NC_000023.10:g.(?_46366112)_(46407917_?)dup http://identifiers.org/clinvar/253999 ^@ NC_000009.11:g.(?_131550680)_(131775355_?)dup http://identifiers.org/clinvar/254000 ^@ NC_000006.11:g.(?_118787404)_(119016296_?)dup http://identifiers.org/clinvar/254001 ^@ NC_000023.10:g.(?_153928244)_(154065414_?)dup http://identifiers.org/clinvar/254002 ^@ NC_000006.11:g.(?_108278386)_(108831557_?)dup http://identifiers.org/clinvar/254003 ^@ NC_000011.9:g.(?_31312348)_(31345582_?)del http://identifiers.org/clinvar/254004 ^@ NC_000007.13:g.(?_3347012)_(3942058_?)del http://identifiers.org/clinvar/254005 ^@ NC_000023.10:g.(?_597797)_(643697_?)dup http://identifiers.org/clinvar/254006 ^@ NC_000001.10:g.(?_180216801)_(180298307_?)dup http://identifiers.org/clinvar/254007 ^@ NC_000016.9:g.(?_70286372)_(70358642_?)del http://identifiers.org/clinvar/254008 ^@ NC_000007.13:g.(?_4560890)_(5028707_?)del http://identifiers.org/clinvar/254009 ^@ NC_000003.11:g.(?_160727290)_(161223046_?)dup http://identifiers.org/clinvar/254010 ^@ NC_000015.9:g.(?_76223116)_(77023288_?)dup http://identifiers.org/clinvar/254011 ^@ NC_000011.9:g.(?_31495213)_(31561481_?)dup http://identifiers.org/clinvar/254012 ^@ NC_000019.9:g.(?_48345470)_(48575975_?)dup http://identifiers.org/clinvar/254013 ^@ NC_000023.10:g.(?_134292112)_(134983787_?)dup http://identifiers.org/clinvar/254014 ^@ NC_000004.11:g.(?_62789165)_(62881087_?)del http://identifiers.org/clinvar/254015 ^@ NC_000015.9:g.(?_74368270)_(78122737_?)dup http://identifiers.org/clinvar/254016 ^@ NC_000016.9:g.(?_10106138)_(10520294_?)dup http://identifiers.org/clinvar/254017 ^@ NC_000015.9:g.(?_22698522)_(23198655_?)del http://identifiers.org/clinvar/254018 ^@ NC_000023.10:g.(?_65813415)_(66955639_?)dup http://identifiers.org/clinvar/254019 ^@ NC_000011.9:g.(?_106959465)_(107537265_?)del http://identifiers.org/clinvar/254020 ^@ NC_000006.11:g.(?_152702696)_(153345479_?)dup http://identifiers.org/clinvar/254021 ^@ NC_000014.8:g.(?_105393054)_(105996538_?)del http://identifiers.org/clinvar/254022 ^@ NC_000023.10:g.(?_91125433)_(93074880_?)del http://identifiers.org/clinvar/254023 ^@ NC_000023.10:g.(?_176426)_(677595_?)dup http://identifiers.org/clinvar/254024 ^@ NC_000004.11:g.(?_56225485)_(56300646_?)del http://identifiers.org/clinvar/254025 ^@ NC_000016.9:g.(?_15507184)_(18141051_?)dup http://identifiers.org/clinvar/254026 ^@ NC_000002.11:g.(?_86298862)_(86509326_?)dup http://identifiers.org/clinvar/254027 ^@ NC_000001.10:g.(?_40944820)_(42213560_?)del http://identifiers.org/clinvar/254028 ^@ NM_031418.3(ANO3):c.702C>G (p.Cys234Trp) http://identifiers.org/clinvar/254029 ^@ NM_006578.3(GNB5):c.242C>T (p.Ser81Leu) http://identifiers.org/clinvar/254063 ^@ NM_003000.2(SDHB):c.201-?_765+?dup http://identifiers.org/clinvar/254078 ^@ NM_152383.4(DIS3L2):c.951-?_1124+?del http://identifiers.org/clinvar/254090 ^@ NM_000251.2(MSH2):c.-125-?_1076+?del http://identifiers.org/clinvar/254072 ^@ NM_000251.2(MSH2):c.-125-?_645+?del http://identifiers.org/clinvar/254049 ^@ NM_000251.2(MSH2):c.-125-?_1076+?dup http://identifiers.org/clinvar/254042 ^@ NM_000179.2(MSH6):c.458-?_4001+?del http://identifiers.org/clinvar/254054 ^@ NM_014946.3(SPAST):c.1494-?_1728+?del http://identifiers.org/clinvar/254065 ^@ NM_000179.2(MSH6):c.-152-?_4001+?dup http://identifiers.org/clinvar/254088 ^@ NM_033084.4(FANCD2):c.-33-?_1098+?del http://identifiers.org/clinvar/254082 ^@ NM_014476.5(PDLIM3):c.-124-?_330+?dup http://identifiers.org/clinvar/254059 ^@ NM_004168.3(SDHA):c.-115-?_1432+?dup1547 http://identifiers.org/clinvar/254084 ^@ NM_005732.3(RAD50):c.3476-?_3618+?dup http://identifiers.org/clinvar/254032 ^@ NM_000038.5(APC):c.-18-?_834+?dup http://identifiers.org/clinvar/254093 ^@ NM_000535.6(PMS2):c.1145-?_2174+?dup1030 http://identifiers.org/clinvar/254046 ^@ NM_002880.3(RAF1):c.-26-?_1370+?dup http://identifiers.org/clinvar/254077 ^@ NM_021072.3(HCN1):c.-25-?_1230+?dup http://identifiers.org/clinvar/254073 ^@ NM_000492.3(CFTR):c.744-?_1584+?dup http://identifiers.org/clinvar/254086 ^@ NM_000535.6(PMS2):c.-87_537+?del http://identifiers.org/clinvar/254079 ^@ NM_001369.2(DNAH5):c.278-?_438+?del http://identifiers.org/clinvar/254044 ^@ NM_004329.2(BMPR1A):c.-152-?_333+?dup http://identifiers.org/clinvar/254091 ^@ NM_000535.6(PMS2):c.164-?_2006+?del http://identifiers.org/clinvar/254066 ^@ NM_024642.4(GALNT12):c.732-?_1035+?del http://identifiers.org/clinvar/254087 ^@ NM_000051.3(ATM):c.2839-?_4109+?del http://identifiers.org/clinvar/254048 ^@ NM_000535.6(PMS2):c.2007-?_2174+?del http://identifiers.org/clinvar/254076 ^@ NM_003165.3(STXBP1):c.88-?_963+?dup http://identifiers.org/clinvar/254045 ^@ NM_007078.2(LDB3):c.-23-?_93+?dup http://identifiers.org/clinvar/254039 ^@ NM_000059.3(BRCA2):c.-39-?_67+?del http://identifiers.org/clinvar/254038 ^@ NM_000314.6(PTEN):c.80-?_492+?del http://identifiers.org/clinvar/254071 ^@ NM_000051.3(ATM):c.2467-?_8850+?dup http://identifiers.org/clinvar/254033 ^@ NM_000051.3(ATM):c.8269-?_8671+?del http://identifiers.org/clinvar/254051 ^@ NM_004572.3(PKP2):c.2146-?_2489+?del http://identifiers.org/clinvar/254040 ^@ NM_000059.3(BRCA2):c.-39-?_793+?del http://identifiers.org/clinvar/254083 ^@ NM_130810.3(DNAAF4):c.784-?_893+?del http://identifiers.org/clinvar/254037 ^@ NM_000548.4(TSC2):c.1600-?_1716+?del http://identifiers.org/clinvar/254070 ^@ NM_003119.3(SPG7):c.1553-?_1779+?del http://identifiers.org/clinvar/254085 ^@ NM_000267.3(NF1):c.-383-?_60+?dup http://identifiers.org/clinvar/254056 ^@ NM_024675.3(PALB2):c.3202-?_3350+?del http://identifiers.org/clinvar/254068 ^@ NM_007294.3(BRCA1):c.5333-?_5406+?del http://identifiers.org/clinvar/254064 ^@ NM_006231.3(POLE):c.63-?_1794+?dup1732 http://identifiers.org/clinvar/254094 ^@ NM_000059.3(BRCA2):c.7598_7617+263del283 http://identifiers.org/clinvar/254058 ^@ NM_007294.3(BRCA1):c.548-?_5074+?dup http://identifiers.org/clinvar/254034 ^@ NM_007294.3(BRCA1):c.-19-?_4185+?del http://identifiers.org/clinvar/254050 ^@ NM_024675.3(PALB2):c.1685-?_2748+?dup http://identifiers.org/clinvar/254074 ^@ NM_007294.3(BRCA1):c.5075-?_5277+?dup http://identifiers.org/clinvar/254043 ^@ NM_007294.3(BRCA1):c.81-?_4986+?del http://identifiers.org/clinvar/254047 ^@ NM_007294.3(BRCA1):c.442-?_593+?del http://identifiers.org/clinvar/254089 ^@ NM_007294.3(BRCA1):c.-19-?_5406+?dup http://identifiers.org/clinvar/254036 ^@ NM_007294.3(BRCA1):c.-19-?_80+?dup http://identifiers.org/clinvar/254041 ^@ NM_007294.3(BRCA1):c.4485-?_4675+?del http://identifiers.org/clinvar/254097 ^@ NM_000267.3(NF1):c.129_130ins568 (p.?) http://identifiers.org/clinvar/254075 ^@ NM_007294.3(BRCA1):c.442-?_547+?del http://identifiers.org/clinvar/254080 ^@ NM_007294.3(BRCA1):c.-19-?_80+?del http://identifiers.org/clinvar/254030 ^@ NM_032043.2(BRIP1):c.2493-?_2575+?dup http://identifiers.org/clinvar/254053 ^@ NM_000546.5(TP53):c.-202-?_-29+?dup http://identifiers.org/clinvar/254031 ^@ NM_000527.4(LDLR):c.-187-?_67+?del http://identifiers.org/clinvar/254055 ^@ NM_007294.3(BRCA1):c.442-?_4357+?del http://identifiers.org/clinvar/254081 ^@ NM_001754.4(RUNX1):c.509-?_613+?del http://identifiers.org/clinvar/254057 ^@ NM_007294.3(BRCA1):c.-19-?_441+?dup http://identifiers.org/clinvar/254067 ^@ NM_007194.3(CHEK2):c.1462-?_1542+?del http://identifiers.org/clinvar/254052 ^@ NM_000546.5(TP53):c.-202-?_-29+?del http://identifiers.org/clinvar/254069 ^@ NM_004006.2(DMD):c.32-?_93+?dup http://identifiers.org/clinvar/254061 ^@ NM_000455.4(STK11):c.-1115-?_290+?del http://identifiers.org/clinvar/254060 ^@ NM_004006.2(DMD):c.6439-?_8217+?dup http://identifiers.org/clinvar/254035 ^@ NM_004006.2(DMD):c.7661-?_10921+?del http://identifiers.org/clinvar/254062 ^@ NM_004006.2(DMD):c.94-?_4233+?del http://identifiers.org/clinvar/254117 ^@ NM_014424.4(HSPB7):c.442A>G (p.Thr148Ala) http://identifiers.org/clinvar/254110 ^@ NM_153606.3(FAM71A):c.1465T>C (p.Ser489Pro) http://identifiers.org/clinvar/254111 ^@ NM_153606.3(FAM71A):c.1475G>A (p.Gly492Asp) http://identifiers.org/clinvar/254114 ^@ NM_003738.4(PTCH2):c.2018G>T (p.Arg673Leu) http://identifiers.org/clinvar/254115 ^@ NM_003738.4(PTCH2):c.1156A>T (p.Ile386Phe) http://identifiers.org/clinvar/254098 ^@ NM_020760.3(HECW2):c.3394G>A (p.Asp1132Asn) http://identifiers.org/clinvar/254099 ^@ NM_020760.3(HECW2):c.2270_2272delAAG (p.Glu757del) http://identifiers.org/clinvar/254100 ^@ NM_020760.3(HECW2):c.1249_1251delAAT (p.Asn417del) http://identifiers.org/clinvar/254119 ^@ NM_003458.3(BSN):c.7366_7377delCAGCAGCTGCAG (p.Gln2463_Leu2466del) http://identifiers.org/clinvar/254101 ^@ NM_005068.2(SIM1):c.2119G>C (p.Asp707His) http://identifiers.org/clinvar/254102 ^@ NM_005068.2(SIM1):c.1994G>A (p.Arg665His) http://identifiers.org/clinvar/254118 ^@ NM_007037.5(ADAMTS8):c.2109C>A (p.Tyr703Ter) http://identifiers.org/clinvar/254103 ^@ NM_181708.2(BCDIN3D):c.23A>G (p.Asp8Gly) http://identifiers.org/clinvar/254108 ^@ NM_032138.5(KBTBD7):c.1496C>G (p.Pro499Arg) http://identifiers.org/clinvar/254109 ^@ NM_032138.5(KBTBD7):c.1208A>C (p.Lys403Thr) http://identifiers.org/clinvar/254113 ^@ NM_004573.2(PLCB2):c.2585C>A (p.Thr862Lys) http://identifiers.org/clinvar/254112 ^@ NM_004573.2(PLCB2):c.1154A>G (p.Lys385Arg) http://identifiers.org/clinvar/254123 ^@ NM_001277325.1(NPIPA5):c.962C>T (p.Pro321Leu) http://identifiers.org/clinvar/254104 ^@ NM_006428.4(MRPL28):c.610G>A (p.Val204Met) http://identifiers.org/clinvar/254105 ^@ NM_006428.4(MRPL28):c.176G>C (p.Arg59Pro) http://identifiers.org/clinvar/254107 ^@ NM_001797.3(CDH11):c.1247C>T (p.Pro416Leu) http://identifiers.org/clinvar/254106 ^@ NM_001797.3(CDH11):c.95G>A (p.Arg32Gln) http://identifiers.org/clinvar/254122 ^@ NM_001080424.2(KDM6B):c.763_768dupCCACCA (p.Pro264_Leu265insProPro) http://identifiers.org/clinvar/254116 ^@ NM_000479.4(AMH):c.350G>A (p.Arg117Gln) http://identifiers.org/clinvar/254121 ^@ NM_001002836.3(ZNF787):c.1086G>C (p.Glu362Asp) http://identifiers.org/clinvar/254120 ^@ NM_182540.4(INTS6L):c.352delT (p.Leu120Terfs) http://identifiers.org/clinvar/254124 ^@ NM_138348.5(OTULIN):c.815T>C (p.Leu272Pro) http://identifiers.org/clinvar/254125 ^@ NM_138348.5(OTULIN):c.517delC (p.Gly174Aspfs) http://identifiers.org/clinvar/254126 ^@ NM_138348.5(OTULIN):c.731A>G (p.Tyr244Cys) http://identifiers.org/clinvar/254127 ^@ NM_031421.3(TTC25):c.114+1G>T http://identifiers.org/clinvar/254128 ^@ NM_031421.3(TTC25):c.425_426insT (p.Lys142Asnfs) http://identifiers.org/clinvar/264658 ^@ NM_033116.5(NEK9):c.1731+1G>T http://identifiers.org/clinvar/254134 ^@ NM_001206999.1(CIT):c.317G>T (p.Gly106Val) http://identifiers.org/clinvar/254135 ^@ NG_029792.1:g.24731A>C http://identifiers.org/clinvar/254136 ^@ NM_001206999.1(CIT):c.689A>T (p.Asp230Val) http://identifiers.org/clinvar/254139 ^@ NM_001206999.1(CIT):c.753+3A>T http://identifiers.org/clinvar/254140 ^@ RNF43, ARG113TER http://identifiers.org/clinvar/254142 ^@ NM_001105531.2(FAM135A):c.474C>G (p.Tyr158Ter) http://identifiers.org/clinvar/254143 ^@ NM_005228.4(EGFR):c.977G>T (p.Cys326Phe) http://identifiers.org/clinvar/254144 ^@ m.9185T>C http://identifiers.org/clinvar/254145 ^@ NM_015650.3(TRAF3IP1):c.374T>C (p.Val125Ala) http://identifiers.org/clinvar/254146 ^@ NM_015650.3(TRAF3IP1):c.463C>T (p.Arg155Ter) http://identifiers.org/clinvar/254147 ^@ NM_015650.3(TRAF3IP1):c.1559T>G (p.Met520Arg) http://identifiers.org/clinvar/254148 ^@ NM_015650.3(TRAF3IP1):c.1575+6T>G http://identifiers.org/clinvar/254149 ^@ NM_015650.3(TRAF3IP1):c.373G>A (p.Val125Met) http://identifiers.org/clinvar/254150 ^@ NM_015650.3(TRAF3IP1):c.51T>G (p.Ile17Met) http://identifiers.org/clinvar/254165 ^@ NM_000282.3(PCCA):c.1353+5_1353+9delGTTTA http://identifiers.org/clinvar/254161 ^@ NM_001035.2(RYR2):c.9688C>A (p.Gln3230Lys) http://identifiers.org/clinvar/254160 ^@ NM_001035.2(RYR2):c.13737C>A (p.His4579Gln) http://identifiers.org/clinvar/254164 ^@ NM_001256850.1(TTN):c.9112T>C (p.Tyr3038His) http://identifiers.org/clinvar/254156 ^@ NM_198056.2(SCN5A):c.5356_5357delCT (p.Leu1786Glufs) http://identifiers.org/clinvar/254157 ^@ NM_198056.2(SCN5A):c.4813+3_4813+6dup http://identifiers.org/clinvar/254163 ^@ NM_004387.3(NKX2-5):c.768T>G (p.Tyr256Ter) http://identifiers.org/clinvar/254159 ^@ NM_000218.2(KCNQ1):c.349C>T (p.Pro117Ser) http://identifiers.org/clinvar/254153 ^@ NM_000256.3(MYBPC3):c.1404delG (p.Gln469Serfs) http://identifiers.org/clinvar/254155 ^@ NM_000256.3(MYBPC3):c.927_928delGG (p.Asp310Leufs) http://identifiers.org/clinvar/254154 ^@ NM_000256.3(MYBPC3):c.332_335dupCTGA (p.Glu112Aspfs) http://identifiers.org/clinvar/254158 ^@ NM_001018004.1(TPM1):c.519G>C (p.Glu173Asp) http://identifiers.org/clinvar/254167 ^@ NM_000883.3(IMPDH1):c.984G>C (p.Gln328His) http://identifiers.org/clinvar/254171 ^@ NM_000076.2(CDKN1C):c.842G>T (p.Arg281Ile) http://identifiers.org/clinvar/254172 ^@ NM_000374.4(UROD):c.578G>C (p.Arg193Pro) http://identifiers.org/clinvar/254174 ^@ NM_004187.3(KDM5C):c.156G>T (p.Trp52Cys) http://identifiers.org/clinvar/254175 ^@ NM_001122757.2(POU1F1):c.712_716delGAAAG (p.Arg239Lysfs) http://identifiers.org/clinvar/254176 ^@ NM_001122757.2(POU1F1):c.293-3C>G http://identifiers.org/clinvar/254177 ^@ NM_001243926.1(MAPKAPK3):c.518T>C (p.Leu173Pro) http://identifiers.org/clinvar/254180 ^@ NM_000163.4(GHR):c.559T>C (p.Trp187Arg) http://identifiers.org/clinvar/254181 ^@ NM_178554.4(KY):c.405C>A (p.Tyr135Ter) http://identifiers.org/clinvar/254182 ^@ NM_178554.4(KY):c.1071delG (p.Thr358Leufs) http://identifiers.org/clinvar/254191 ^@ NM_133171.4(ELMO2):c.1065+1G>A http://identifiers.org/clinvar/254192 ^@ NM_133171.4(ELMO2):c.1802-1G>C http://identifiers.org/clinvar/254193 ^@ NM_133171.4(ELMO2):c.2080delC (p.Leu694Trpfs) http://identifiers.org/clinvar/254194 ^@ CD19, IVS6AS, G-T, -1 http://identifiers.org/clinvar/254195 ^@ NM_001770.5(CD19):c.156G>C (p.Trp52Cys) http://identifiers.org/clinvar/254196 ^@ NM_001770.5(CD19):c.1464delC (p.Ser489Alafs) http://identifiers.org/clinvar/254197 ^@ NM_001770.5(CD19):c.1653_*9delins23 http://identifiers.org/clinvar/254198 ^@ NM_198833.1(SERPINB8):c.947delA (p.Lys316Serfs) http://identifiers.org/clinvar/254199 ^@ NM_198833.1(SERPINB8):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/254200 ^@ NM_198833.1(SERPINB8):c.850C>T (p.Arg284Ter) http://identifiers.org/clinvar/254211 ^@ NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) http://identifiers.org/clinvar/254212 ^@ NG_029553.1:g.3620_7471del3852 http://identifiers.org/clinvar/254213 ^@ NM_001081563.2:c.*224_*226CTG[30]CCG[2]CTG[2]CCG[1]CTG[105] http://identifiers.org/clinvar/254214 ^@ NM_001081563.2:c.*224_*226CTG[28]CCG[2]CTG[2]CCG[1]CTG[88] http://identifiers.org/clinvar/254216 ^@ NM_001033855.2(DCLRE1C):c.1669dupA (p.Thr557Asnfs) http://identifiers.org/clinvar/254217 ^@ NM_001033855.2(DCLRE1C):c.194C>T (p.Thr65Ile) http://identifiers.org/clinvar/254237 ^@ NM_000141.4(FGFR2):c.864_881del18 (p.Ile288_Val294delinsMet) http://identifiers.org/clinvar/254238 ^@ NM_000455.4(STK11):c.541A>G (p.Asn181Asp) http://identifiers.org/clinvar/254239 ^@ NM_004493.2(HSD17B10):c.592C>A (p.Pro198Thr) http://identifiers.org/clinvar/254242 ^@ NM_198897.1(FIBP):c.175_176insTAA (p.His59delinsLeuAsn) http://identifiers.org/clinvar/254243 ^@ NM_001003787.2(STRADA):c.842dupA (p.Asp281Glufs) http://identifiers.org/clinvar/254245 ^@ NM_003896.3(ST3GAL5):c.584G>C (p.Cys195Ser) http://identifiers.org/clinvar/254246 ^@ NM_003896.3(ST3GAL5):c.601G>A (p.Gly201Arg) http://identifiers.org/clinvar/254247 ^@ NM_013328.3(PYCR2):c.796C>T (p.Arg266Ter) http://identifiers.org/clinvar/254248 ^@ NM_013328.3(PYCR2):c.773T>C (p.Val258Ala) http://identifiers.org/clinvar/254249 ^@ NM_013328.3(PYCR2):c.595C>T (p.Arg199Trp) http://identifiers.org/clinvar/254250 ^@ NM_013328.3(PYCR2):c.694T>G (p.Cys232Gly) http://identifiers.org/clinvar/254251 ^@ NM_001303256.2(MORC2):c.707A>G (p.Glu236Gly) http://identifiers.org/clinvar/254258 ^@ NM_004434.2(EML1):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/254259 ^@ NM_004434.2(EML1):c.727A>G (p.Thr243Ala) http://identifiers.org/clinvar/254260 ^@ NM_004434.2(EML1):c.673T>C (p.Trp225Arg) http://identifiers.org/clinvar/254261 ^@ NM_021912.4(GABRB3):c.358G>A (p.Asp120Asn) http://identifiers.org/clinvar/254262 ^@ NM_021912.4(GABRB3):c.545A>T (p.Tyr182Phe) http://identifiers.org/clinvar/254263 ^@ NM_021912.4(GABRB3):c.745C>A (p.Gln249Lys) http://identifiers.org/clinvar/254264 ^@ NM_021912.4(GABRB3):c.913G>A (p.Ala305Thr) http://identifiers.org/clinvar/254265 ^@ NM_004171.3(SLC1A2):c.244G>C (p.Gly82Arg) http://identifiers.org/clinvar/254266 ^@ NM_004171.3(SLC1A2):c.254T>C (p.Leu85Pro) http://identifiers.org/clinvar/254267 ^@ NM_001127221.1(CACNA1A):c.301G>C (p.Glu101Gln) http://identifiers.org/clinvar/254268 ^@ NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) http://identifiers.org/clinvar/254269 ^@ NM_001127221.1(CACNA1A):c.4522G>T (p.Ala1508Ser) http://identifiers.org/clinvar/254270 ^@ NM_001243766.1(POMGNT1):c.860T>G (p.Ile287Ser) http://identifiers.org/clinvar/254272 ^@ NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) http://identifiers.org/clinvar/254274 ^@ NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala) http://identifiers.org/clinvar/254275 ^@ NM_017739.3(POMGNT1):c.359T>G (p.Leu120Arg) http://identifiers.org/clinvar/254276 ^@ NM_025103.2(IFT74):c.1685-1G>T http://identifiers.org/clinvar/254277 ^@ NC_000009.11:g.27040563_27060990del20428 http://identifiers.org/clinvar/254278 ^@ NM_024824.4(ZC3H14):c.460C>T (p.Arg154Ter) http://identifiers.org/clinvar/254279 ^@ NM_024824.4(ZC3H14):c.2204+17_2204+41del25 http://identifiers.org/clinvar/254280 ^@ NC_000007.13:g.79337679_86790392del7452714 http://identifiers.org/clinvar/254281 ^@ NC_000007.13:g.81217070_83933784del2716715 http://identifiers.org/clinvar/254282 ^@ t(X;7)(p10;q21.11) http://identifiers.org/clinvar/254350 ^@ NM_177438.2(DICER1):c.5465A>T (p.D1822V) http://identifiers.org/clinvar/254349 ^@ NM_177438.2(DICER1):c.5394delA (p.E1799Kfs*39) http://identifiers.org/clinvar/254343 ^@ NM_177438.2(DICER1):c.5096-498_5364+356del http://identifiers.org/clinvar/254348 ^@ NM_177438.2(DICER1):c.5299delC (p.H1767Mfs*71) http://identifiers.org/clinvar/254347 ^@ NM_177438.2(DICER1):c.5251_5255delAAGTA (p.K1751Rfs*12) http://identifiers.org/clinvar/254346 ^@ NM_177438.2(DICER1):c.5194dupC (p.L1732Pfs*33) http://identifiers.org/clinvar/254345 ^@ NM_177438.2(DICER1):c.5123G>A (p.G1708E) http://identifiers.org/clinvar/254344 ^@ NM_177438.2(DICER1):c.5104C>T (p.Q1702*) http://identifiers.org/clinvar/254342 ^@ NM_177438.2(DICER1):c.5095+1G>C http://identifiers.org/clinvar/254341 ^@ NM_177438.2(DICER1):c.5053C>T (p.Q1685*) http://identifiers.org/clinvar/254340 ^@ NM_177438.2(DICER1):c.4960_4961dupGA (p.D1654Efs*7) http://identifiers.org/clinvar/254339 ^@ NM_177438.2(DICER1):c.4626delG (p.Q1542Hfs*18) http://identifiers.org/clinvar/254338 ^@ NM_177438.2(DICER1):c.4621A>T (p.K1541*) http://identifiers.org/clinvar/254337 ^@ NM_177438.2(DICER1):c.4605_4606delTG (p.C1535Wfs*3) http://identifiers.org/clinvar/254336 ^@ NM_177438.2(DICER1):c.4517G>A (p.W1506*) http://identifiers.org/clinvar/254335 ^@ NM_177438.2(DICER1):c.4511delG (p.S1504Tfs*56) http://identifiers.org/clinvar/254334 ^@ NM_177438.2(DICER1):c.4426_4427insT (p.D1476Vfs5*) http://identifiers.org/clinvar/254333 ^@ NM_177438.2(DICER1):c.4407_4408delTT (p.P1471Ffs*5) http://identifiers.org/clinvar/254332 ^@ NM_177438.2(DICER1):c.4309_4312delGACT (p.D1437Mfs*16) http://identifiers.org/clinvar/254331 ^@ NM_177438.2(DICER1):c.4190G>A (p.W1397*) http://identifiers.org/clinvar/254330 ^@ NM_177438.2(DICER1):c.3875_3878delCCAA (p.P1292Lfs*9) http://identifiers.org/clinvar/254329 ^@ NM_177438.2(DICER1):c.3777dupC (p.V1260Rfs*19) http://identifiers.org/clinvar/254328 ^@ NM_177438.2(DICER1):c.3726C>A (p.Y1242*) http://identifiers.org/clinvar/254327 ^@ NM_177438.2(DICER1):c.3676G>T (p.E1226*) http://identifiers.org/clinvar/254326 ^@ NM_177438.2(DICER1):c.3658C>T (p.Q1220*) http://identifiers.org/clinvar/254325 ^@ NM_177438.2(DICER1):c.3589delT (p.C1197Afs*6) http://identifiers.org/clinvar/254324 ^@ NM_177438.2(DICER1):c.3579_3580delCA (p.N1193Kfs*41) http://identifiers.org/clinvar/254323 ^@ NM_177438.2(DICER1):c.3540C>A (p.Y1180*) http://identifiers.org/clinvar/254322 ^@ NM_177438.2(DICER1):c.3538_3539delTA (p.Y1180Qfs*10) http://identifiers.org/clinvar/254321 ^@ NM_177438.2(DICER1):c.3534_3535insAA (p.S1179Nfs*14) http://identifiers.org/clinvar/254320 ^@ NM_177438.2(DICER1):c.3515_3525delTTACAGCAATTinsA (p.L1172Qfs*17) http://identifiers.org/clinvar/254319 ^@ NM_177438.2(DICER1):c.3300delA (p.K1100Nfs*44) http://identifiers.org/clinvar/254318 ^@ NM_177438.2(DICER1):c.3277_3280delAACT (p.N1093*) http://identifiers.org/clinvar/254317 ^@ NM_177438.2(DICER1):c.3273C>G (p.Y1091*) http://identifiers.org/clinvar/254316 ^@ NM_177438.2(DICER1):c.3175dupT (p.Y1059Lfs*32) http://identifiers.org/clinvar/254315 ^@ NM_177438.2(DICER1):c.3135_3137delATCinsTGAACTCATG (p.S1046Efs*47) http://identifiers.org/clinvar/254314 ^@ NM_177438.2(DICER1):c.2888_2889delCT (p.P963Rfs*3) http://identifiers.org/clinvar/254313 ^@ NM_177438.2(DICER1):c.2867_2869delCACinsAA (p.P956Qfs*25) http://identifiers.org/clinvar/254312 ^@ NM_177438.2(DICER1):c.2863delA (p.T955Pfs*26) http://identifiers.org/clinvar/254311 ^@ NM_177438.2(DICER1):c.2749G>T (p.E917*) http://identifiers.org/clinvar/254310 ^@ NM_177438.2(DICER1):c.2650+1G>T http://identifiers.org/clinvar/254309 ^@ NM_177438.2(DICER1):c.2392dupA (p.T798Nfs*33) http://identifiers.org/clinvar/254308 ^@ NM_177438.2(DICER1):c.2247C>A (p.Y749*) http://identifiers.org/clinvar/254305 ^@ NM_177438.2(DICER1):c.2236A>G (p.R746G) http://identifiers.org/clinvar/254304 ^@ NM_177438.2(DICER1):c.2158_2159delGT (p.V720*) http://identifiers.org/clinvar/254303 ^@ NM_177438.2(DICER1):c.2062C>T (p.R688*) http://identifiers.org/clinvar/254302 ^@ NM_177438.2(DICER1):c.2040+1G>T http://identifiers.org/clinvar/254301 ^@ NM_177438.2(DICER1):c.1966C>T (p.R656*) http://identifiers.org/clinvar/254300 ^@ NM_177438.2(DICER1):c.1910dupA (p.Y637*) http://identifiers.org/clinvar/254299 ^@ NM_177438.2(DICER1):c.1907+1delG http://identifiers.org/clinvar/254298 ^@ NM_177438.2(DICER1):c.1880_1883delTCAA (p.I627Tfs*22) http://identifiers.org/clinvar/254297 ^@ NM_177438.2(DICER1):c.1870C>T (p.R624*) http://identifiers.org/clinvar/254296 ^@ NM_177438.2(DICER1):c.1827_1828insAG (p.V610Rfs*8) http://identifiers.org/clinvar/254295 ^@ NM_177438.2(DICER1):c.1787delC (p.T596Mfs*21) http://identifiers.org/clinvar/254294 ^@ NM_177438.2(DICER1):c.1752+1delG http://identifiers.org/clinvar/254293 ^@ NM_177438.2(DICER1):c.1745T>C (p.I582T) http://identifiers.org/clinvar/254292 ^@ NM_177438.2(DICER1):c.1716delT (p.F572Lfs*15) http://identifiers.org/clinvar/254291 ^@ NM_177438.2(DICER1):c.1694_1695delAT (p.T566Rfs*7) http://identifiers.org/clinvar/254290 ^@ NM_177438.2(DICER1):c.1684_1685delAT (p.M562Vfs*11) http://identifiers.org/clinvar/254289 ^@ NM_177438.2(DICER1):c.1651G>T (p.G551*) http://identifiers.org/clinvar/254288 ^@ NM_177438.2(DICER1):c.1525C>T (p.R509*) http://identifiers.org/clinvar/254287 ^@ NM_177438.2(DICER1):c.1408G>T (p.E470*) http://identifiers.org/clinvar/254286 ^@ NM_177438.2(DICER1):c.1376+1G>T http://identifiers.org/clinvar/254285 ^@ NM_177438.2(DICER1):c.1202dupA (p.Y401*) http://identifiers.org/clinvar/254284 ^@ NM_177438.2(DICER1):c.1185_1187delTGAinsC (p.E396Kfs*3) http://identifiers.org/clinvar/254283 ^@ NM_177438.2(DICER1):c.1144G>T (p.E382*) http://identifiers.org/clinvar/254356 ^@ NM_177438.2(DICER1):c.996C>A (p.Y332*) http://identifiers.org/clinvar/254355 ^@ NM_177438.2(DICER1):c.878_881delGAGA (p.R293Ifs*4) http://identifiers.org/clinvar/254354 ^@ NM_177438.2(DICER1):c.832C>T (p.L278F) http://identifiers.org/clinvar/254353 ^@ NM_177438.2(DICER1):c.745C>T (p.G249*) http://identifiers.org/clinvar/254352 ^@ NM_177438.2(DICER1):c.735-1_741delGGTATACTinsA http://identifiers.org/clinvar/254351 ^@ NM_177438.2(DICER1):c.629T>G (p.L210*) http://identifiers.org/clinvar/254306 ^@ NM_177438.2(DICER1):c.2243_2244delGCinsAA (p.Cys748Ter) http://identifiers.org/clinvar/254307 ^@ NM_177438.2(DICER1):c.2243_2244insACTA (p.Cys748Terfs) http://identifiers.org/clinvar/254357 ^@ NM_001077350.2(NPRL3):c.835dupT (p.Ser279Phefs) http://identifiers.org/clinvar/254358 ^@ NM_001243248.1(NPRL3):c.1277-4_1277-1delACAGinsTGACCCATCC http://identifiers.org/clinvar/254359 ^@ NM_001077350.2(NPRL3):c.1376_1377insAC (p.Ser460Profs) http://identifiers.org/clinvar/254360 ^@ NM_001077350.2(NPRL3):c.1270C>T (p.Arg424Ter) http://identifiers.org/clinvar/254361 ^@ NM_001077350.2(NPRL3):c.1070delC (p.Pro357Hisfs) http://identifiers.org/clinvar/254362 ^@ NM_006545.4(NPRL2):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/254363 ^@ NM_006545.4(NPRL2):c.883C>T (p.Arg295Ter) http://identifiers.org/clinvar/254364 ^@ NM_006545.4(NPRL2):c.314T>C (p.Leu105Pro) http://identifiers.org/clinvar/254365 ^@ NM_006545.4(NPRL2):c.68_69delTC (p.Ile23Asnfs) http://identifiers.org/clinvar/254472 ^@ NM_000059.3(BRCA2):c.120_123delACCC (p.Pro41Ilefs) http://identifiers.org/clinvar/254473 ^@ NM_000059.3(BRCA2):c.204dupA (p.Pro69Thrfs) http://identifiers.org/clinvar/254474 ^@ NM_000059.3(BRCA2):c.391delT (p.Ser131Profs) http://identifiers.org/clinvar/254475 ^@ NM_000059.3(BRCA2):c.419delG (p.Ser140Metfs) http://identifiers.org/clinvar/254476 ^@ NM_000059.3(BRCA2):c.486delG (p.Ser163Valfs) http://identifiers.org/clinvar/254477 ^@ NM_000059.3(BRCA2):c.523C>T (p.Gln175Ter) http://identifiers.org/clinvar/254478 ^@ NM_000059.3(BRCA2):c.541delT (p.Ser181Leufs) http://identifiers.org/clinvar/254479 ^@ NM_000059.3(BRCA2):c.584C>G (p.Ser195Ter) http://identifiers.org/clinvar/254480 ^@ NM_000059.3(BRCA2):c.674delC (p.Thr225Ilefs) http://identifiers.org/clinvar/254481 ^@ NM_000059.3(BRCA2):c.677delC (p.Thr226Metfs) http://identifiers.org/clinvar/254482 ^@ NM_000059.3(BRCA2):c.754_755delGA (p.Asp252Glnfs) http://identifiers.org/clinvar/254483 ^@ NM_000059.3(BRCA2):c.833delG (p.Ser278Thrfs) http://identifiers.org/clinvar/254484 ^@ NM_000059.3(BRCA2):c.925dupT (p.Ser309Phefs) http://identifiers.org/clinvar/254485 ^@ NM_000059.3(BRCA2):c.926C>A (p.Ser309Ter) http://identifiers.org/clinvar/254486 ^@ NM_000059.3(BRCA2):c.1055dupA (p.Tyr352Terfs) http://identifiers.org/clinvar/254487 ^@ NM_000059.3(BRCA2):c.1164_1168delACCGT (p.Pro389Phefs) http://identifiers.org/clinvar/254488 ^@ NM_000059.3(BRCA2):c.1187_1200delCTCAACTAACCCTT (p.Ser396Phefs) http://identifiers.org/clinvar/254489 ^@ NM_000059.3(BRCA2):c.1226delA (p.Glu409Glyfs) http://identifiers.org/clinvar/254490 ^@ NM_000059.3(BRCA2):c.1292_1293delCA (p.Thr431Argfs) http://identifiers.org/clinvar/254491 ^@ NM_000059.3(BRCA2):c.1311_1314delAGAT (p.Lys437Asnfs) http://identifiers.org/clinvar/254492 ^@ NM_000059.3(BRCA2):c.1325C>G (p.Ser442Ter) http://identifiers.org/clinvar/254493 ^@ NM_000059.3(BRCA2):c.1507_1508delAA (p.Lys503Valfs) http://identifiers.org/clinvar/254494 ^@ NM_000059.3(BRCA2):c.1704_1705insG (p.Gln569Alafs) http://identifiers.org/clinvar/254495 ^@ NM_000059.3(BRCA2):c.1989delT (p.Phe663Leufs) http://identifiers.org/clinvar/254496 ^@ NM_000059.3(BRCA2):c.2085_2089delGGAAA (p.Glu696Thrfs) http://identifiers.org/clinvar/254497 ^@ NM_000059.3(BRCA2):c.2226delA (p.Gln742Hisfs) http://identifiers.org/clinvar/254499 ^@ NM_000059.3(BRCA2):c.2279_2283delTATAT (p.Leu760Terfs) http://identifiers.org/clinvar/254498 ^@ NM_000059.3(BRCA2):c.2279delT (p.Leu760Tyrfs) http://identifiers.org/clinvar/254500 ^@ NM_000059.3(BRCA2):c.2319delT (p.Thr774Leufs) http://identifiers.org/clinvar/254501 ^@ NM_000059.3(BRCA2):c.2325delC (p.Lys776Argfs) http://identifiers.org/clinvar/254502 ^@ NM_000059.3(BRCA2):c.2364delC (p.Glu790Asnfs) http://identifiers.org/clinvar/254503 ^@ NM_000059.3(BRCA2):c.2548C>T (p.Gln850Ter) http://identifiers.org/clinvar/254504 ^@ NM_000059.3(BRCA2):c.2622dupT (p.Val875Cysfs) http://identifiers.org/clinvar/254505 ^@ NM_000059.3(BRCA2):c.2648delT (p.Phe883Serfs) http://identifiers.org/clinvar/254506 ^@ NM_000059.3(BRCA2):c.2651C>A (p.Ser884Ter) http://identifiers.org/clinvar/254507 ^@ NM_000059.3(BRCA2):c.2655_2656delCA (p.Asp885Glufs) http://identifiers.org/clinvar/254508 ^@ NM_000059.3(BRCA2):c.2658_2659dupTG (p.Glu887Valfs) http://identifiers.org/clinvar/254509 ^@ NM_000059.3(BRCA2):c.2905C>T (p.Gln969Ter) http://identifiers.org/clinvar/254510 ^@ NM_000059.3(BRCA2):c.2957delA (p.Asn986Ilefs) http://identifiers.org/clinvar/254511 ^@ NM_000059.3(BRCA2):c.2961delT (p.Asn987Lysfs) http://identifiers.org/clinvar/254512 ^@ NM_000059.3(BRCA2):c.3016G>T (p.Gly1006Ter) http://identifiers.org/clinvar/254513 ^@ NM_000059.3(BRCA2):c.3046G>T (p.Glu1016Ter) http://identifiers.org/clinvar/254514 ^@ NM_000059.3(BRCA2):c.3175delC (p.Leu1059Terfs) http://identifiers.org/clinvar/254515 ^@ NM_000059.3(BRCA2):c.3293delA (p.Asn1098Ilefs) http://identifiers.org/clinvar/254516 ^@ NM_000059.3(BRCA2):c.3295delT (p.Ser1099Glnfs) http://identifiers.org/clinvar/254517 ^@ NM_000059.3(BRCA2):c.3455dupT (p.Leu1152Phefs) http://identifiers.org/clinvar/254518 ^@ NM_000059.3(BRCA2):c.3593dupA (p.Asn1198Lysfs) http://identifiers.org/clinvar/254519 ^@ NM_000059.3(BRCA2):c.3599delG (p.Cys1200Leufs) http://identifiers.org/clinvar/254521 ^@ NM_000059.3(BRCA2):c.3639_3652delAGTGGGGTTTAGGG (p.Val1214Leufs) http://identifiers.org/clinvar/254520 ^@ NM_000059.3(BRCA2):c.3639delA (p.Val1214Trpfs) http://identifiers.org/clinvar/254522 ^@ NM_000059.3(BRCA2):c.3681delG (p.Asn1228Metfs) http://identifiers.org/clinvar/254523 ^@ NM_000059.3(BRCA2):c.3720_3723delGTTT (p.Phe1241Valfs) http://identifiers.org/clinvar/254524 ^@ NM_000059.3(BRCA2):c.3774_3775delAA (p.Ile1258Metfs) http://identifiers.org/clinvar/254525 ^@ NM_000059.3(BRCA2):c.3808_3809delGT (p.Val1270Phefs) http://identifiers.org/clinvar/254526 ^@ NM_000059.3(BRCA2):c.3849_3850insT (p.Ser1284Terfs) http://identifiers.org/clinvar/254527 ^@ NM_000059.3(BRCA2):c.3857_3860delAAAA (p.Lys1286Ilefs) http://identifiers.org/clinvar/254528 ^@ NM_000059.3(BRCA2):c.3864_3865delTA (p.Asn1288Lysfs) http://identifiers.org/clinvar/254529 ^@ NM_000059.3(BRCA2):c.3957_3960delTGAA (p.Asn1319Lysfs) http://identifiers.org/clinvar/254530 ^@ NM_000059.3(BRCA2):c.4042dupT (p.Cys1348Leufs) http://identifiers.org/clinvar/254531 ^@ NM_000059.3(BRCA2):c.4154C>A (p.Ser1385Ter) http://identifiers.org/clinvar/254532 ^@ NM_000059.3(BRCA2):c.4162_4166delACTTT (p.Thr1388Phefs) http://identifiers.org/clinvar/254533 ^@ NM_000059.3(BRCA2):c.4252_4255delATAAinsT (p.Ile1418_Ser1753delinsTer) http://identifiers.org/clinvar/254534 ^@ NM_000059.3(BRCA2):c.4418delA (p.Asn1473Thrfs) http://identifiers.org/clinvar/254535 ^@ NM_000059.3(BRCA2):c.4465A>T (p.Lys1489Ter) http://identifiers.org/clinvar/254536 ^@ NM_000059.3(BRCA2):c.4483_4484delGT (p.Val1495Profs) http://identifiers.org/clinvar/254537 ^@ NM_000059.3(BRCA2):c.4533delA (p.Glu1511Aspfs) http://identifiers.org/clinvar/254538 ^@ NM_000059.3(BRCA2):c.4594_4597delGTTA (p.Val1532Lysfs) http://identifiers.org/clinvar/254539 ^@ NM_000059.3(BRCA2):c.4689G>A (p.Trp1563Ter) http://identifiers.org/clinvar/254540 ^@ NM_000059.3(BRCA2):c.4794_4797delCAAT (p.Asn1599Metfs) http://identifiers.org/clinvar/254541 ^@ NM_000059.3(BRCA2):c.4821_4822delTG (p.Glu1608Aspfs) http://identifiers.org/clinvar/254542 ^@ NM_000059.3(BRCA2):c.4904T>A (p.Leu1635Ter) http://identifiers.org/clinvar/254543 ^@ NM_000059.3(BRCA2):c.4936G>T (p.Glu1646Ter) http://identifiers.org/clinvar/254544 ^@ NM_000059.3(BRCA2):c.4940delC (p.Thr1647Lysfs) http://identifiers.org/clinvar/254545 ^@ NM_000059.3(BRCA2):c.4965delCinsGA (p.Tyr1655Terfs) http://identifiers.org/clinvar/254546 ^@ NM_000059.3(BRCA2):c.4972C>T (p.Gln1658Ter) http://identifiers.org/clinvar/254547 ^@ NM_000059.3(BRCA2):c.5057T>A (p.Leu1686Ter) http://identifiers.org/clinvar/254549 ^@ NM_000059.3(BRCA2):c.5070_5073delAAAA (p.Lys1690Asnfs) http://identifiers.org/clinvar/254548 ^@ NM_000059.3(BRCA2):c.5071A>T (p.Lys1691Ter) http://identifiers.org/clinvar/254550 ^@ NM_000059.3(BRCA2):c.5130delT (p.Tyr1710Terfs) http://identifiers.org/clinvar/254551 ^@ NM_000059.3(BRCA2):c.5132_5135delTAGG (p.Val1711Glufs) http://identifiers.org/clinvar/254552 ^@ NM_000059.3(BRCA2):c.5138delA (p.Asn1713Ilefs) http://identifiers.org/clinvar/254553 ^@ NM_000059.3(BRCA2):c.5170dupA (p.Ile1724Asnfs) http://identifiers.org/clinvar/254554 ^@ NM_000059.3(BRCA2):c.5200G>T (p.Glu1734Ter) http://identifiers.org/clinvar/254555 ^@ NM_000059.3(BRCA2):c.5241_5242insTA (p.Ser1748Terfs) http://identifiers.org/clinvar/254556 ^@ NM_000059.3(BRCA2):c.5281G>T (p.Gly1761Ter) http://identifiers.org/clinvar/254557 ^@ NM_000059.3(BRCA2):c.5304delT (p.Asp1769Ilefs) http://identifiers.org/clinvar/254558 ^@ NM_000059.3(BRCA2):c.5486delT (p.Leu1829Cysfs) http://identifiers.org/clinvar/254559 ^@ NM_000059.3(BRCA2):c.5564C>A (p.Ser1855Ter) http://identifiers.org/clinvar/254560 ^@ NM_000059.3(BRCA2):c.5604_5605delCA (p.Asp1868Glufs) http://identifiers.org/clinvar/254561 ^@ NM_000059.3(BRCA2):c.5644_5647delTCAA (p.Ser1882Lysfs) http://identifiers.org/clinvar/254562 ^@ NM_000059.3(BRCA2):c.5655_5656dupCC (p.Gln1886Profs) http://identifiers.org/clinvar/254563 ^@ NM_000059.3(BRCA2):c.5720_5723delCTCT (p.Ser1907Terfs) http://identifiers.org/clinvar/254564 ^@ NM_000059.3(BRCA2):c.5778delT (p.Ser1926Argfs) http://identifiers.org/clinvar/254565 ^@ NM_000059.3(BRCA2):c.5779G>T (p.Glu1927Ter) http://identifiers.org/clinvar/254566 ^@ NM_000059.3(BRCA2):c.5891delA (p.Lys1964Serfs) http://identifiers.org/clinvar/254567 ^@ NM_000059.3(BRCA2):c.5935_5936insT (p.Ser1979Metfs) http://identifiers.org/clinvar/254568 ^@ NM_000059.3(BRCA2):c.5966C>A (p.Ser1989Ter) http://identifiers.org/clinvar/254569 ^@ NM_000059.3(BRCA2):c.5969delA (p.Asp1990Valfs) http://identifiers.org/clinvar/254570 ^@ NM_000059.3(BRCA2):c.5978T>G (p.Leu1993Ter) http://identifiers.org/clinvar/254571 ^@ NM_000059.3(BRCA2):c.5993_5994delAA (p.Gln1998Argfs) http://identifiers.org/clinvar/254572 ^@ NM_000059.3(BRCA2):c.6008delT (p.Ile2003Lysfs) http://identifiers.org/clinvar/254573 ^@ NM_000059.3(BRCA2):c.6092delC (p.Thr2031Metfs) http://identifiers.org/clinvar/254574 ^@ NM_000059.3(BRCA2):c.6109_6113delGAACA (p.Glu2037Phefs) http://identifiers.org/clinvar/254575 ^@ NM_000059.3(BRCA2):c.6136delT (p.Ser2046Hisfs) http://identifiers.org/clinvar/254576 ^@ NM_000059.3(BRCA2):c.6152delA (p.Asn2051Ilefs) http://identifiers.org/clinvar/254577 ^@ NM_000059.3(BRCA2):c.6239delT (p.Leu2080Terfs) http://identifiers.org/clinvar/254578 ^@ NM_000059.3(BRCA2):c.6277dupC (p.His2093Profs) http://identifiers.org/clinvar/254579 ^@ NM_000059.3(BRCA2):c.6361_6362delGA (p.Glu2121Asnfs) http://identifiers.org/clinvar/254580 ^@ NM_000059.3(BRCA2):c.6393delA (p.Lys2131Asnfs) http://identifiers.org/clinvar/254581 ^@ NM_000059.3(BRCA2):c.6410dupA (p.Asn2137Lysfs) http://identifiers.org/clinvar/254582 ^@ NM_000059.3(BRCA2):c.6434delA (p.Asn2145Ilefs) http://identifiers.org/clinvar/254583 ^@ NM_000059.3(BRCA2):c.6450delA (p.Val2151Phefs) http://identifiers.org/clinvar/254584 ^@ NM_000059.3(BRCA2):c.6578_6584delAAATTGG (p.Glu2193Valfs) http://identifiers.org/clinvar/254585 ^@ NM_000059.3(BRCA2):c.6623delA (p.Asn2208Ilefs) http://identifiers.org/clinvar/254586 ^@ NM_000059.3(BRCA2):c.6642_6643insC (p.Tyr2215Leufs) http://identifiers.org/clinvar/254587 ^@ NM_000059.3(BRCA2):c.6645_6649delCTCCA (p.Tyr2215Terfs) http://identifiers.org/clinvar/254588 ^@ NM_000059.3(BRCA2):c.6692delC (p.Ala2231Valfs) http://identifiers.org/clinvar/254589 ^@ NM_000059.3(BRCA2):c.6757dupC (p.Leu2253Profs) http://identifiers.org/clinvar/254590 ^@ NM_000059.3(BRCA2):c.6763dupA (p.Thr2255Asnfs) http://identifiers.org/clinvar/254592 ^@ NM_000059.3(BRCA2):c.6947_6950delAAGA (p.Lys2316Ilefs) http://identifiers.org/clinvar/254591 ^@ NM_000059.3(BRCA2):c.6948_6949insTT (p.Asp2317Leufs) http://identifiers.org/clinvar/254593 ^@ NM_000059.3(BRCA2):c.6982G>T (p.Glu2328Ter) http://identifiers.org/clinvar/254594 ^@ NM_000059.3(BRCA2):c.7037delA (p.Asn2346Ilefs) http://identifiers.org/clinvar/254595 ^@ NM_000059.3(BRCA2):c.7063G>T (p.Glu2355Ter) http://identifiers.org/clinvar/254596 ^@ NM_000059.3(BRCA2):c.7083_7092delTTTGTATGAA (p.Leu2362Ilefs) http://identifiers.org/clinvar/254597 ^@ NM_000059.3(BRCA2):c.7109_7110delAA (p.Lys2370Ilefs) http://identifiers.org/clinvar/254598 ^@ NM_000059.3(BRCA2):c.7184_7187delACTT (p.His2395Argfs) http://identifiers.org/clinvar/254599 ^@ NM_000059.3(BRCA2):c.7248delT (p.His2417Thrfs) http://identifiers.org/clinvar/254600 ^@ NM_000059.3(BRCA2):c.7285delG (p.Glu2429Argfs) http://identifiers.org/clinvar/254601 ^@ NM_000059.3(BRCA2):c.7350_7354delTGACA (p.Asn2450Lysfs) http://identifiers.org/clinvar/254602 ^@ NM_000059.3(BRCA2):c.7382delA (p.Asn2461Thrfs) http://identifiers.org/clinvar/254603 ^@ NM_000059.3(BRCA2):c.7415delA (p.Lys2472Serfs) http://identifiers.org/clinvar/254604 ^@ NM_000059.3(BRCA2):c.7433dupT (p.Leu2478Phefs) http://identifiers.org/clinvar/254605 ^@ NM_000059.3(BRCA2):c.7464_7465insTA (p.Asp2489Terfs) http://identifiers.org/clinvar/254606 ^@ NM_000059.3(BRCA2):c.7471delC (p.Gln2491Argfs) http://identifiers.org/clinvar/254607 ^@ NM_000059.3(BRCA2):c.7485delT (p.Lys2496Argfs) http://identifiers.org/clinvar/254608 ^@ NM_000059.3(BRCA2):c.7486_7487insT (p.Lys2496Ilefs) http://identifiers.org/clinvar/254609 ^@ NM_000059.3(BRCA2):c.7549_7550delAC (p.Thr2517Serfs) http://identifiers.org/clinvar/254610 ^@ NM_000059.3(BRCA2):c.7673_7674dupAG (p.Phe2560Leufs) http://identifiers.org/clinvar/254611 ^@ NM_000059.3(BRCA2):c.7683_7684delGT (p.Gln2561Hisfs) http://identifiers.org/clinvar/254612 ^@ NM_000059.3(BRCA2):c.7706delG (p.Gly2569Valfs) http://identifiers.org/clinvar/254613 ^@ NM_000059.3(BRCA2):c.7858delG (p.Val2620Phefs) http://identifiers.org/clinvar/254614 ^@ NM_000059.3(BRCA2):c.7921G>T (p.Glu2641Ter) http://identifiers.org/clinvar/254615 ^@ NM_000059.3(BRCA2):c.7951delA (p.Arg2651Glyfs) http://identifiers.org/clinvar/254616 ^@ NM_000059.3(BRCA2):c.7987G>T (p.Glu2663Ter) http://identifiers.org/clinvar/254617 ^@ NM_000059.3(BRCA2):c.7990delA (p.Ile2664Leufs) http://identifiers.org/clinvar/254619 ^@ NM_000059.3(BRCA2):c.8012_8034del23 (p.Ala2671Glyfs) http://identifiers.org/clinvar/254618 ^@ NM_000059.3(BRCA2):c.8022_8023delGA (p.Lys2674Asnfs) http://identifiers.org/clinvar/254620 ^@ NM_000059.3(BRCA2):c.8178T>A (p.Tyr2726Ter) http://identifiers.org/clinvar/254621 ^@ NM_000059.3(BRCA2):c.8377G>T (p.Gly2793Ter) http://identifiers.org/clinvar/254622 ^@ NM_000059.3(BRCA2):c.8378delGinsAA (p.Gly2793Glufs) http://identifiers.org/clinvar/254623 ^@ NM_000059.3(BRCA2):c.8478C>A (p.Tyr2826Ter) http://identifiers.org/clinvar/254624 ^@ NM_000059.3(BRCA2):c.8488_8489delTG (p.Trp2830Aspfs) http://identifiers.org/clinvar/254625 ^@ NM_000059.3(BRCA2):c.8639_8640delCA (p.Thr2880Asnfs) http://identifiers.org/clinvar/254626 ^@ NM_000059.3(BRCA2):c.8648delC (p.Pro2883Hisfs) http://identifiers.org/clinvar/254627 ^@ NM_000059.3(BRCA2):c.8767_8776delGAAGAGCAGT (p.Glu2923Terfs) http://identifiers.org/clinvar/254628 ^@ NM_000059.3(BRCA2):c.8911A>T (p.Lys2971Ter) http://identifiers.org/clinvar/254629 ^@ NM_000059.3(BRCA2):c.8958dupA (p.Leu2987Thrfs) http://identifiers.org/clinvar/254630 ^@ NM_000059.3(BRCA2):c.9246dupG (p.Lys3083Glufs) http://identifiers.org/clinvar/254631 ^@ NM_000059.3(BRCA2):c.9286dupG (p.Glu3096Glyfs) http://identifiers.org/clinvar/254632 ^@ NM_000059.3(BRCA2):c.9295_9301delAATTTAC (p.Asn3099Trpfs) http://identifiers.org/clinvar/254633 ^@ NM_000059.3(BRCA2):c.9366_9367delAA (p.Ser3123Glnfs) http://identifiers.org/clinvar/254634 ^@ NM_000059.3(BRCA2):c.9429_9430delTT (p.Ser3144Cysfs) http://identifiers.org/clinvar/254635 ^@ NM_000059.3(BRCA2):c.9674dupA (p.Tyr3225Terfs) http://identifiers.org/clinvar/254636 ^@ NM_000059.3(BRCA2):c.9689delT (p.Leu3230Tyrfs) http://identifiers.org/clinvar/254637 ^@ NM_000059.3(BRCA2):c.9946G>T (p.Glu3316Ter) http://identifiers.org/clinvar/254470 ^@ NM_007294.3(BRCA1):c.5484_5485delTG (p.Cys1828Terfs) http://identifiers.org/clinvar/254471 ^@ NM_007294.3(BRCA1):c.5485dupG (p.Glu1829Glyfs) http://identifiers.org/clinvar/254469 ^@ NM_007294.3(BRCA1):c.5391delA (p.Phe1798Serfs) http://identifiers.org/clinvar/254468 ^@ NM_007294.3(BRCA1):c.5366delC (p.Ala1789Valfs) http://identifiers.org/clinvar/254467 ^@ NM_007294.3(BRCA1):c.5338delC (p.Leu1780Trpfs) http://identifiers.org/clinvar/254466 ^@ NM_007294.3(BRCA1):c.5276delA (p.Lys1759Argfs) http://identifiers.org/clinvar/254465 ^@ NM_007294.3(BRCA1):c.5268_5274delGGACAGA (p.Asp1757Argfs) http://identifiers.org/clinvar/254464 ^@ NM_007294.3(BRCA1):c.5234dupA (p.Asn1745Lysfs) http://identifiers.org/clinvar/254463 ^@ NM_007294.3(BRCA1):c.5133dupA (p.Trp1712Metfs) http://identifiers.org/clinvar/254462 ^@ NM_007294.3(BRCA1):c.5123delC (p.Ala1708Glyfs) http://identifiers.org/clinvar/254461 ^@ NM_007294.3(BRCA1):c.5027_5031delTAACT (p.Leu1676Terfs) http://identifiers.org/clinvar/254460 ^@ NM_007294.3(BRCA1):c.4969delC (p.Leu1657Terfs) http://identifiers.org/clinvar/254459 ^@ NM_007294.3(BRCA1):c.4932_4933dupAA (p.Arg1645Lysfs) http://identifiers.org/clinvar/254458 ^@ NM_007294.3(BRCA1):c.4895_4896delTG (p.Val1632Glufs) http://identifiers.org/clinvar/254457 ^@ NM_007294.3(BRCA1):c.4806delT (p.Gln1604Asnfs) http://identifiers.org/clinvar/254456 ^@ NM_007294.3(BRCA1):c.4609_4610insCC (p.Gln1537Profs) http://identifiers.org/clinvar/254455 ^@ NM_007294.3(BRCA1):c.4483delA (p.Arg1495Glyfs) http://identifiers.org/clinvar/254454 ^@ NM_007294.3(BRCA1):c.4193_4194insGG (p.Asp1398Glufs) http://identifiers.org/clinvar/254453 ^@ NM_007294.3(BRCA1):c.4139_4140delAA (p.Glu1380Glyfs) http://identifiers.org/clinvar/254452 ^@ NM_007294.3(BRCA1):c.4088C>G (p.Ser1363Ter) http://identifiers.org/clinvar/254451 ^@ NM_007294.3(BRCA1):c.4038_4039delAA (p.Gly1348Asnfs) http://identifiers.org/clinvar/254450 ^@ NM_007294.3(BRCA1):c.4015dupG (p.Glu1339Glyfs) http://identifiers.org/clinvar/254449 ^@ NM_007294.3(BRCA1):c.4013delA (p.Lys1338Argfs) http://identifiers.org/clinvar/254448 ^@ NM_007294.3(BRCA1):c.3999_4008delTGGTCTGAGT (p.Gly1334Thrfs) http://identifiers.org/clinvar/254447 ^@ NM_007294.3(BRCA1):c.3910G>T (p.Glu1304Ter) http://identifiers.org/clinvar/254446 ^@ NM_007294.3(BRCA1):c.3889delT (p.Ser1297Leufs) http://identifiers.org/clinvar/254445 ^@ NM_007294.3(BRCA1):c.3853delC (p.Ser1286Valfs) http://identifiers.org/clinvar/254444 ^@ NM_007294.3(BRCA1):c.3779T>G (p.Leu1260Ter) http://identifiers.org/clinvar/254443 ^@ NM_007294.3(BRCA1):c.3770_3777delAGGAGAAT (p.Glu1257Valfs) http://identifiers.org/clinvar/254442 ^@ NM_007294.3(BRCA1):c.3714_3747del34 (p.Gln1240Valfs) http://identifiers.org/clinvar/254441 ^@ NM_007294.3(BRCA1):c.3710_3711dupTA (p.Pro1238Tyrfs) http://identifiers.org/clinvar/254440 ^@ NM_007294.3(BRCA1):c.3697A>T (p.Lys1233Ter) http://identifiers.org/clinvar/254439 ^@ NM_007294.3(BRCA1):c.3695delG (p.Gly1232Valfs) http://identifiers.org/clinvar/254438 ^@ NM_007294.3(BRCA1):c.3635C>G (p.Ser1212Ter) http://identifiers.org/clinvar/254437 ^@ NM_007294.3(BRCA1):c.3624delA (p.Lys1208Asnfs) http://identifiers.org/clinvar/254436 ^@ NM_007294.3(BRCA1):c.3616delG (p.Ala1206Profs) http://identifiers.org/clinvar/254435 ^@ NM_007294.3(BRCA1):c.3592_3593dupTT (p.Leu1198Phefs) http://identifiers.org/clinvar/254434 ^@ NM_007294.3(BRCA1):c.3570delT (p.Ser1191Alafs) http://identifiers.org/clinvar/254433 ^@ NM_007294.3(BRCA1):c.3547_3550delAAAGinsGAT (p.Lys1183Aspfs) http://identifiers.org/clinvar/254432 ^@ NM_007294.3(BRCA1):c.3541delG (p.Val1181Serfs) http://identifiers.org/clinvar/254431 ^@ NM_007294.3(BRCA1):c.3531dupT (p.Ser1178Terfs) http://identifiers.org/clinvar/254430 ^@ NM_007294.3(BRCA1):c.3496delG (p.Ala1166Leufs) http://identifiers.org/clinvar/254429 ^@ NM_007294.3(BRCA1):c.3458_3462delTGTTA (p.Leu1153Argfs) http://identifiers.org/clinvar/254428 ^@ NM_007294.3(BRCA1):c.3459_3460delGT (p.Leu1154Argfs) http://identifiers.org/clinvar/254427 ^@ NM_007294.3(BRCA1):c.3442G>T (p.Glu1148Ter) http://identifiers.org/clinvar/254426 ^@ NM_007294.3(BRCA1):c.3330delG (p.Lys1110Asnfs) http://identifiers.org/clinvar/254425 ^@ NM_007294.3(BRCA1):c.3279_3280delCT (p.Tyr1094Terfs) http://identifiers.org/clinvar/254424 ^@ NM_007294.3(BRCA1):c.3226A>T (p.Arg1076Ter) http://identifiers.org/clinvar/254423 ^@ NM_007294.3(BRCA1):c.3015delA (p.Glu1005Aspfs) http://identifiers.org/clinvar/254422 ^@ NM_007294.3(BRCA1):c.3001G>T (p.Glu1001Ter) http://identifiers.org/clinvar/254421 ^@ NM_007294.3(BRCA1):c.2927delA (p.Asn976Thrfs) http://identifiers.org/clinvar/254420 ^@ NM_007294.3(BRCA1):c.2898delT (p.Thr967Leufs) http://identifiers.org/clinvar/254419 ^@ NM_007294.3(BRCA1):c.2806_2807delGA (p.Asp936Terfs) http://identifiers.org/clinvar/254418 ^@ NM_007294.3(BRCA1):c.2689_2690insAC (p.Pro897Hisfs) http://identifiers.org/clinvar/254417 ^@ NM_007294.3(BRCA1):c.2649_2650insGGCA (p.Thr884Glyfs) http://identifiers.org/clinvar/254416 ^@ NM_007294.3(BRCA1):c.2630delA (p.Asn877Metfs) http://identifiers.org/clinvar/254415 ^@ NM_007294.3(BRCA1):c.2601_2604dupGTCA (p.Phe869Valfs) http://identifiers.org/clinvar/254414 ^@ NM_007294.3(BRCA1):c.2599C>T (p.Gln867Ter) http://identifiers.org/clinvar/254413 ^@ NM_007294.3(BRCA1):c.2445_2448delTCAT (p.Ile815Metfs) http://identifiers.org/clinvar/254412 ^@ NM_007294.3(BRCA1):c.2409delT (p.Gln804Serfs) http://identifiers.org/clinvar/254411 ^@ NM_007294.3(BRCA1):c.2380dupG (p.Ala794Glyfs) http://identifiers.org/clinvar/254410 ^@ NM_007294.3(BRCA1):c.2246_2280del35 (p.Asp749Glyfs) http://identifiers.org/clinvar/254409 ^@ NM_007294.3(BRCA1):c.2255_2256dupTA (p.Ser753Terfs) http://identifiers.org/clinvar/254408 ^@ NM_007294.3(BRCA1):c.2242_2251delAAAGATCTCA (p.Lys748Cysfs) http://identifiers.org/clinvar/254407 ^@ NM_007294.3(BRCA1):c.2145delC (p.Ser716Valfs) http://identifiers.org/clinvar/254406 ^@ NM_007294.3(BRCA1):c.2138C>A (p.Ser713Ter) http://identifiers.org/clinvar/254405 ^@ NM_007294.3(BRCA1):c.2095G>T (p.Glu699Ter) http://identifiers.org/clinvar/254404 ^@ NM_007294.3(BRCA1):c.2074_2075delCA (p.His692Terfs) http://identifiers.org/clinvar/254403 ^@ NM_007294.3(BRCA1):c.2066_2069delGTAA (p.Ser689Lysfs) http://identifiers.org/clinvar/254402 ^@ NM_007294.3(BRCA1):c.1977_1978delAG (p.Val660Glnfs) http://identifiers.org/clinvar/254401 ^@ NM_007294.3(BRCA1):c.1961_1962delAG (p.Lys654Ilefs) http://identifiers.org/clinvar/254400 ^@ NM_007294.3(BRCA1):c.1842_1843dupGT (p.Ser615Cysfs) http://identifiers.org/clinvar/254399 ^@ NM_007294.3(BRCA1):c.1839_1840delGA (p.Lys614Valfs) http://identifiers.org/clinvar/254398 ^@ NM_007294.3(BRCA1):c.1826delA (p.Asn609Ilefs) http://identifiers.org/clinvar/254397 ^@ NM_007294.3(BRCA1):c.1733_1734delCT (p.Ser578Cysfs) http://identifiers.org/clinvar/254396 ^@ NM_007294.3(BRCA1):c.1650dupT (p.Ser551Terfs) http://identifiers.org/clinvar/254395 ^@ NM_007294.3(BRCA1):c.1543G>T (p.Glu515Ter) http://identifiers.org/clinvar/254394 ^@ NM_007294.3(BRCA1):c.1501_1504delAAAT (p.Lys501Terfs) http://identifiers.org/clinvar/254393 ^@ NM_007294.3(BRCA1):c.1257delA (p.Asp420Metfs) http://identifiers.org/clinvar/254392 ^@ NM_007294.3(BRCA1):c.1190delA (p.Asp397Alafs) http://identifiers.org/clinvar/254391 ^@ NM_007294.3(BRCA1):c.1123delC (p.Leu375Terfs) http://identifiers.org/clinvar/254390 ^@ NM_007294.3(BRCA1):c.1105dupG (p.Asp369Glyfs) http://identifiers.org/clinvar/254389 ^@ NM_007294.3(BRCA1):c.1080C>A (p.Cys360Ter) http://identifiers.org/clinvar/254388 ^@ NM_007294.3(BRCA1):c.1044T>A (p.Cys348Ter) http://identifiers.org/clinvar/254387 ^@ NM_007294.3(BRCA1):c.1039delC (p.Leu347Cysfs) http://identifiers.org/clinvar/254386 ^@ NM_007294.3(BRCA1):c.1018dupG (p.Val340Glyfs) http://identifiers.org/clinvar/254385 ^@ NM_007294.3(BRCA1):c.954_955insGT (p.Asn319Valfs) http://identifiers.org/clinvar/254384 ^@ NM_007294.3(BRCA1):c.897delA (p.Glu300Lysfs) http://identifiers.org/clinvar/254383 ^@ NM_007294.3(BRCA1):c.875delT (p.Leu292Profs) http://identifiers.org/clinvar/254382 ^@ NM_007294.3(BRCA1):c.856G>T (p.Glu286Ter) http://identifiers.org/clinvar/254381 ^@ NM_007294.3(BRCA1):c.841_842dupAG (p.Ser281Argfs) http://identifiers.org/clinvar/254380 ^@ NM_007294.3(BRCA1):c.784C>T (p.Gln262Ter) http://identifiers.org/clinvar/254379 ^@ NM_007294.3(BRCA1):c.745_746delAC (p.Thr249Terfs) http://identifiers.org/clinvar/254378 ^@ NM_007294.3(BRCA1):c.737T>A (p.Leu246Ter) http://identifiers.org/clinvar/254377 ^@ NM_007294.3(BRCA1):c.475delC (p.Gly160Glufs) http://identifiers.org/clinvar/254375 ^@ NM_007294.3(BRCA1):c.464_465delAA (p.Gln155Profs) http://identifiers.org/clinvar/254376 ^@ NM_007294.3(BRCA1):c.465delA (p.Gln155Hisfs) http://identifiers.org/clinvar/254374 ^@ NM_007294.3(BRCA1):c.397delC (p.Arg133Valfs) http://identifiers.org/clinvar/254373 ^@ NM_007294.3(BRCA1):c.390C>G (p.Tyr130Ter) http://identifiers.org/clinvar/254372 ^@ NM_007294.3(BRCA1):c.280C>T (p.Gln94Ter) http://identifiers.org/clinvar/254371 ^@ NM_007294.3(BRCA1):c.211delA (p.Arg71Glyfs) http://identifiers.org/clinvar/254370 ^@ NM_007294.3(BRCA1):c.205dupA (p.Thr69Asnfs) http://identifiers.org/clinvar/254369 ^@ NM_007294.3(BRCA1):c.165_166dupGA (p.Lys56Argfs) http://identifiers.org/clinvar/254368 ^@ NM_007294.3(BRCA1):c.74_75delCC (p.Pro25Hisfs) http://identifiers.org/clinvar/254367 ^@ NM_007294.3(BRCA1):c.65delT (p.Leu22Terfs) http://identifiers.org/clinvar/254366 ^@ NM_007294.3(BRCA1):c.51delT (p.Met18Cysfs) http://identifiers.org/clinvar/254644 ^@ NM_000059.3(BRCA2):c.40A>G (p.Ile14Val) http://identifiers.org/clinvar/254645 ^@ NM_000059.3(BRCA2):c.8323A>G (p.Met2775Val) http://identifiers.org/clinvar/254643 ^@ NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) http://identifiers.org/clinvar/254642 ^@ NM_007294.3(BRCA1):c.5125G>A (p.Gly1709Arg) http://identifiers.org/clinvar/254641 ^@ NM_007294.3(BRCA1):c.5075A>C (p.Asp1692Ala) http://identifiers.org/clinvar/254640 ^@ NM_007294.3(BRCA1):c.486G>T (p.Val162=) http://identifiers.org/clinvar/254639 ^@ NM_007294.3(BRCA1):c.213-5T>A http://identifiers.org/clinvar/254638 ^@ NM_007294.3(BRCA1):c.-20+521_-20+525delAAAAA http://identifiers.org/clinvar/254648 ^@ NM_206876.1(PPP1CB):c.146C>G (p.Pro49Arg) http://identifiers.org/clinvar/254652 ^@ NM_206876.1(PPP1CB):c.548A>C (p.Glu183Ala) http://identifiers.org/clinvar/254651 ^@ NM_206876.1(PPP1CB):c.548A>T (p.Glu183Val) http://identifiers.org/clinvar/254649 ^@ NM_206876.1(PPP1CB):c.754G>T (p.Asp252Tyr) http://identifiers.org/clinvar/254653 ^@ NM_206876.1(PPP1CB):c.820G>A (p.Glu274Lys) http://identifiers.org/clinvar/254654 ^@ NM_000455.4(STK11):c.542A>G (p.Asn181Ser) http://identifiers.org/clinvar/254655 ^@ NM_133443.3(GPT2):c.1210C>T (p.Arg404Ter) http://identifiers.org/clinvar/254656 ^@ NM_133443.3(GPT2):c.815C>T (p.Pro272Leu) http://identifiers.org/clinvar/254657 ^@ KLHL15, 22.5-KB DEL http://identifiers.org/clinvar/254658 ^@ KLHL15, 1-BP DEL http://identifiers.org/clinvar/254661 ^@ NM_014804.2(KIAA0753):c.1891A>T (p.Lys631Ter) http://identifiers.org/clinvar/254662 ^@ NM_014804.2(KIAA0753):c.1546-3C>A http://identifiers.org/clinvar/254668 ^@ NM_014845.5(FIG4):c.759delG (p.Phe254Serfs) http://identifiers.org/clinvar/254669 ^@ NM_014845.5(FIG4):c.919G>A (p.Asp307Asn) http://identifiers.org/clinvar/254670 ^@ NM_014845.5(FIG4):c.1619C>T (p.Thr540Ile) http://identifiers.org/clinvar/254671 ^@ NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) http://identifiers.org/clinvar/254672 ^@ NM_014845.5(FIG4):c.2558C>T (p.Ser853Leu) http://identifiers.org/clinvar/254673 ^@ NM_138576.3(BCL11B):c.1323T>G (p.Asn441Lys) http://identifiers.org/clinvar/254674 ^@ NM_006147.3(IRF6):c.1316T>C (p.Leu439Pro) http://identifiers.org/clinvar/254675 ^@ NM_001165927.1(MKS1):c.1461-2A>G http://identifiers.org/clinvar/254677 ^@ NM_017777.3(MKS1):c.1588+1G>T http://identifiers.org/clinvar/254678 ^@ NM_001243473.2(B9D1):c.526G>A (p.Gly176Arg) http://identifiers.org/clinvar/254680 ^@ NM_015681.4(B9D1):c.520_522delGTG (p.Val174del) http://identifiers.org/clinvar/254682 ^@ NM_014728.3(FRMPD4):c.1847delC (p.Cys618Valfs) http://identifiers.org/clinvar/254683 ^@ NM_014728.3(FRMPD4):c.1657T>C (p.Cys553Arg) http://identifiers.org/clinvar/254684 ^@ NM_001145073.2(USP27X):c.1023_1027delAAGTA (p.Ser342Argfs) http://identifiers.org/clinvar/254685 ^@ NM_001145073.2(USP27X):c.1141T>C (p.Tyr381His) http://identifiers.org/clinvar/254686 ^@ NM_000223.3(KRT12):c.395T>C (p.Leu132Pro) http://identifiers.org/clinvar/254687 ^@ NM_024557.5(RIC3):c.169C>A (p.Pro57Thr) http://identifiers.org/clinvar/254688 ^@ NM_024652.5(LRRK1):c.5939_5945delAGTGGTG (p.Glu1980Alafs) http://identifiers.org/clinvar/263166 ^@ NM_198576.3(AGRN):c.202-13A>G http://identifiers.org/clinvar/260541 ^@ NM_015074.3(KIF1B):c.184-6_184-5delTT http://identifiers.org/clinvar/260542 ^@ NM_015074.3(KIF1B):c.720+17C>T http://identifiers.org/clinvar/260540 ^@ NM_015074.3(KIF1B):c.1162+18C>T http://identifiers.org/clinvar/258472 ^@ NM_001854.3(COL11A1):c.4935T>C (p.Gly1645=) http://identifiers.org/clinvar/258470 ^@ NM_001854.3(COL11A1):c.4770T>C (p.Ile1590=) http://identifiers.org/clinvar/258469 ^@ NM_001854.3(COL11A1):c.4701T>C (p.Asp1567=) http://identifiers.org/clinvar/258468 ^@ NM_001854.3(COL11A1):c.4608+34A>G http://identifiers.org/clinvar/258467 ^@ NM_001854.3(COL11A1):c.4608+18A>G http://identifiers.org/clinvar/258466 ^@ NM_001854.3(COL11A1):c.4512T>C (p.Gly1504=) http://identifiers.org/clinvar/258465 ^@ NM_001854.3(COL11A1):c.4303-47T>C http://identifiers.org/clinvar/258464 ^@ NM_001854.3(COL11A1):c.4302+48A>T http://identifiers.org/clinvar/258463 ^@ NM_001854.3(COL11A1):c.3979-14A>T http://identifiers.org/clinvar/258462 ^@ NM_001854.3(COL11A1):c.3978+38T>G http://identifiers.org/clinvar/258461 ^@ NM_001854.3(COL11A1):c.3968C>T (p.Pro1323Leu) http://identifiers.org/clinvar/258460 ^@ NM_001854.3(COL11A1):c.3924+19C>T http://identifiers.org/clinvar/258459 ^@ NM_001854.3(COL11A1):c.3402G>A (p.Pro1134=) http://identifiers.org/clinvar/258458 ^@ NM_001854.3(COL11A1):c.3375C>T (p.Asp1125=) http://identifiers.org/clinvar/258457 ^@ NM_001854.3(COL11A1):c.3277-13A>C http://identifiers.org/clinvar/258456 ^@ NM_001854.3(COL11A1):c.3168+41T>C http://identifiers.org/clinvar/258455 ^@ NM_001854.3(COL11A1):c.3168+15A>G http://identifiers.org/clinvar/258454 ^@ NM_001854.3(COL11A1):c.3025-23A>T http://identifiers.org/clinvar/258453 ^@ NM_001854.3(COL11A1):c.2901A>C (p.Gly967=) http://identifiers.org/clinvar/258447 ^@ NM_001854.3(COL11A1):c.2656-12T>C http://identifiers.org/clinvar/258448 ^@ NM_001854.3(COL11A1):c.2656-20T>C http://identifiers.org/clinvar/258449 ^@ NM_001854.3(COL11A1):c.2656-28T>C http://identifiers.org/clinvar/258446 ^@ NM_001854.3(COL11A1):c.2611-4C>T http://identifiers.org/clinvar/258445 ^@ NM_001854.3(COL11A1):c.2611-19A>C http://identifiers.org/clinvar/258444 ^@ NM_001854.3(COL11A1):c.2556+92T>A http://identifiers.org/clinvar/258443 ^@ NM_080629.2(COL11A1):c.2331+37A>T http://identifiers.org/clinvar/258442 ^@ NM_001854.3(COL11A1):c.2043+8G>A http://identifiers.org/clinvar/258441 ^@ NM_001854.3(COL11A1):c.2040C>T (p.Asn680=) http://identifiers.org/clinvar/258440 ^@ NM_001854.3(COL11A1):c.1998+4T>A http://identifiers.org/clinvar/258439 ^@ NM_001854.3(COL11A1):c.1413+18A>T http://identifiers.org/clinvar/258473 ^@ NM_001854.3(COL11A1):c.651+16A>G http://identifiers.org/clinvar/258471 ^@ NM_001854.3(COL11A1):c.488+23G>A http://identifiers.org/clinvar/258452 ^@ NM_001854.3(COL11A1):c.275-7T>C http://identifiers.org/clinvar/258451 ^@ NM_001854.3(COL11A1):c.275-17delT http://identifiers.org/clinvar/258450 ^@ NM_001854.3(COL11A1):c.274+42G>C http://identifiers.org/clinvar/258438 ^@ NM_001854.3(COL11A1):c.138T>G (p.Asp46Glu) http://identifiers.org/clinvar/263202 ^@ NM_198576.3(AGRN):c.729C>G (p.Gly243=) http://identifiers.org/clinvar/263203 ^@ NM_198576.3(AGRN):c.738C>T (p.Asp246=) http://identifiers.org/clinvar/263204 ^@ NM_198576.3(AGRN):c.773C>T (p.Thr258Ile) http://identifiers.org/clinvar/263158 ^@ NM_198576.3(AGRN):c.1123G>T (p.Ala375Ser) http://identifiers.org/clinvar/263159 ^@ NM_198576.3(AGRN):c.1384+28G>A http://identifiers.org/clinvar/263160 ^@ NM_198576.3(AGRN):c.1385-15_1385-14delCT http://identifiers.org/clinvar/263161 ^@ NM_198576.3(AGRN):c.1394C>T (p.Pro465Leu) http://identifiers.org/clinvar/263162 ^@ NM_198576.3(AGRN):c.1434G>A (p.Thr478=) http://identifiers.org/clinvar/263163 ^@ NM_198576.3(AGRN):c.1528G>A (p.Gly510Ser) http://identifiers.org/clinvar/263164 ^@ NM_198576.3(AGRN):c.1603+19G>A http://identifiers.org/clinvar/263165 ^@ NM_198576.3(AGRN):c.1660G>A (p.Val554Met) http://identifiers.org/clinvar/263167 ^@ NM_198576.3(AGRN):c.2067G>A (p.Gln689=) http://identifiers.org/clinvar/263168 ^@ NM_198576.3(AGRN):c.2254+16G>A http://identifiers.org/clinvar/263169 ^@ NM_198576.3(AGRN):c.2266G>A (p.Ala756Thr) http://identifiers.org/clinvar/263170 ^@ NM_198576.3(AGRN):c.2271G>A (p.Pro757=) http://identifiers.org/clinvar/263171 ^@ NM_198576.3(AGRN):c.2536+45C>T http://identifiers.org/clinvar/263172 ^@ NM_198576.3(AGRN):c.2537-26A>G http://identifiers.org/clinvar/263173 ^@ NM_198576.3(AGRN):c.2555A>G (p.Gln852Arg) http://identifiers.org/clinvar/263174 ^@ NM_198576.3(AGRN):c.2589G>A (p.Thr863=) http://identifiers.org/clinvar/263175 ^@ NM_198576.3(AGRN):c.2681-16C>G http://identifiers.org/clinvar/263176 ^@ NM_198576.3(AGRN):c.2682C>T (p.Asp894=) http://identifiers.org/clinvar/263177 ^@ NM_198576.3(AGRN):c.2796C>T (p.Asn932=) http://identifiers.org/clinvar/263178 ^@ NM_198576.3(AGRN):c.3003C>T (p.Pro1001=) http://identifiers.org/clinvar/263179 ^@ NM_198576.3(AGRN):c.3077C>A (p.Thr1026Asn) http://identifiers.org/clinvar/263180 ^@ NM_198576.3(AGRN):c.3388+19G>A http://identifiers.org/clinvar/259436 ^@ NM_004565.2(PEX14):c.36+8G>A http://identifiers.org/clinvar/263181 ^@ NM_198576.3(AGRN):c.3517-12T>C http://identifiers.org/clinvar/263182 ^@ NM_198576.3(AGRN):c.3719C>T (p.Pro1240Leu) http://identifiers.org/clinvar/263183 ^@ NM_198576.3(AGRN):c.4285C>T (p.Arg1429Cys) http://identifiers.org/clinvar/263184 ^@ NM_198576.3(AGRN):c.4298+11A>T http://identifiers.org/clinvar/263185 ^@ NM_198576.3(AGRN):c.4352C>T (p.Pro1451Leu) http://identifiers.org/clinvar/263186 ^@ NM_198576.3(AGRN):c.4514+16G>C http://identifiers.org/clinvar/263187 ^@ NM_198576.3(AGRN):c.4518G>A (p.Ala1506=) http://identifiers.org/clinvar/263188 ^@ NM_198576.3(AGRN):c.4745-17C>T http://identifiers.org/clinvar/263189 ^@ NM_198576.3(AGRN):c.4839C>T (p.Cys1613=) http://identifiers.org/clinvar/263190 ^@ NM_198576.3(AGRN):c.4879+17T>A http://identifiers.org/clinvar/263191 ^@ NM_198576.3(AGRN):c.4879+29G>T http://identifiers.org/clinvar/263192 ^@ NM_198576.3(AGRN):c.4879+32G>A http://identifiers.org/clinvar/263193 ^@ NM_198576.3(AGRN):c.4977-10A>G http://identifiers.org/clinvar/263194 ^@ NM_198576.3(AGRN):c.5025C>T (p.Gly1675=) http://identifiers.org/clinvar/263195 ^@ NM_198576.3(AGRN):c.5201G>A (p.Arg1734His) http://identifiers.org/clinvar/263196 ^@ NM_198576.3(AGRN):c.5337C>T (p.Ala1779=) http://identifiers.org/clinvar/263197 ^@ NM_198576.3(AGRN):c.5352C>T (p.Phe1784=) http://identifiers.org/clinvar/263198 ^@ NM_198576.3(AGRN):c.5370+11G>A http://identifiers.org/clinvar/263199 ^@ NM_198576.3(AGRN):c.5647G>A (p.Glu1883Lys) http://identifiers.org/clinvar/259434 ^@ NM_004565.2(PEX14):c.156C>T (p.Phe52=) http://identifiers.org/clinvar/263200 ^@ NM_198576.3(AGRN):c.5877-17C>A http://identifiers.org/clinvar/263201 ^@ NM_198576.3(AGRN):c.6054G>A (p.Arg2018=) http://identifiers.org/clinvar/263157 ^@ NM_198576.3(AGRN):c.*19C>T http://identifiers.org/clinvar/259435 ^@ NM_004565.2(PEX14):c.213C>G (p.Gly71=) http://identifiers.org/clinvar/259437 ^@ NM_004565.2(PEX14):c.768G>A (p.Val256=) http://identifiers.org/clinvar/259438 ^@ NM_004565.2(PEX14):c.873C>T (p.His291=) http://identifiers.org/clinvar/259439 ^@ NM_004565.2(PEX14):c.959G>A (p.Arg320Lys) http://identifiers.org/clinvar/260281 ^@ NM_013296.4(GPSM2):c.557+17A>G http://identifiers.org/clinvar/259744 ^@ NM_005272.3(GNAT2):c.546G>A (p.Thr182=) http://identifiers.org/clinvar/259743 ^@ NM_005272.3(GNAT2):c.319C>A (p.Leu107Ile) http://identifiers.org/clinvar/259742 ^@ NM_005272.3(GNAT2):c.-32A>G http://identifiers.org/clinvar/259986 ^@ NM_006492.2(ALX3):c.627G>A (p.Arg209=) http://identifiers.org/clinvar/259600 ^@ NM_004980.4(KCND3):c.1269+15C>A http://identifiers.org/clinvar/258902 ^@ NM_003051.3(SLC16A1):c.1002G>A (p.Ala334=) http://identifiers.org/clinvar/258903 ^@ NM_003051.3(SLC16A1):c.441C>T (p.Asn147=) http://identifiers.org/clinvar/260443 ^@ NM_014813.2(LRIG2):c.2680+10_2680+11delCT http://identifiers.org/clinvar/256640 ^@ NM_000549.4(TSHB):c.40A>G (p.Thr14Ala) http://identifiers.org/clinvar/257653 ^@ NM_001232.3(CASQ2):c.939+23C>T http://identifiers.org/clinvar/257652 ^@ NM_001232.3(CASQ2):c.784-17T>A http://identifiers.org/clinvar/257651 ^@ NM_001232.3(CASQ2):c.492C>T (p.Tyr164=) http://identifiers.org/clinvar/255803 ^@ NM_000302.3(PLOD1):c.294C>T (p.Phe98=) http://identifiers.org/clinvar/255804 ^@ NM_000302.3(PLOD1):c.358G>T (p.Ala120Ser) http://identifiers.org/clinvar/255799 ^@ NM_000302.3(PLOD1):c.1206C>T (p.Asn402=) http://identifiers.org/clinvar/255800 ^@ NM_000302.3(PLOD1):c.1470+14G>A http://identifiers.org/clinvar/255801 ^@ NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) http://identifiers.org/clinvar/255802 ^@ NM_000302.3(PLOD1):c.1632A>C (p.Ala544=) http://identifiers.org/clinvar/261705 ^@ NM_024408.3(NOTCH2):c.7341T>A (p.Gly2447=) http://identifiers.org/clinvar/261704 ^@ NM_024408.3(NOTCH2):c.6421C>T (p.Leu2141=) http://identifiers.org/clinvar/261703 ^@ NM_024408.3(NOTCH2):c.4014C>T (p.Ser1338=) http://identifiers.org/clinvar/261702 ^@ NM_024408.3(NOTCH2):c.3234C>T (p.Cys1078=) http://identifiers.org/clinvar/261701 ^@ NM_024408.3(NOTCH2):c.3117G>A (p.Thr1039=) http://identifiers.org/clinvar/261700 ^@ NM_024408.3(NOTCH2):c.2599+12G>C http://identifiers.org/clinvar/261699 ^@ NM_024408.3(NOTCH2):c.2196A>C (p.Gly732=) http://identifiers.org/clinvar/259707 ^@ NM_005267.4(GJA8):c.804C>T (p.Leu268=) http://identifiers.org/clinvar/259886 ^@ NM_005850.4(SF3B4):c.396T>C (p.Ile132=) http://identifiers.org/clinvar/260155 ^@ NM_007259.4(VPS45):c.290-10T>C http://identifiers.org/clinvar/261079 ^@ NM_019032.5(ADAMTSL4):c.577G>C (p.Ala193Pro) http://identifiers.org/clinvar/261080 ^@ NM_019032.5(ADAMTSL4):c.939C>T (p.Gly313=) http://identifiers.org/clinvar/261075 ^@ NM_019032.5(ADAMTSL4):c.1098G>A (p.Gly366=) http://identifiers.org/clinvar/261076 ^@ NM_019032.5(ADAMTSL4):c.2442T>C (p.Asn814=) http://identifiers.org/clinvar/261077 ^@ NM_019032.5(ADAMTSL4):c.2484G>A (p.Pro828=) http://identifiers.org/clinvar/261078 ^@ NM_019032.5(ADAMTSL4):c.2906C>A (p.Ala969Asp) http://identifiers.org/clinvar/262627 ^@ NM_152263.3(TPM3):c.776-49T>C http://identifiers.org/clinvar/262626 ^@ NM_152263.3(TPM3):c.775+22T>C http://identifiers.org/clinvar/262625 ^@ NM_152263.3(TPM3):c.566+18C>G http://identifiers.org/clinvar/262624 ^@ NM_152263.3(TPM3):c.495+28G>C http://identifiers.org/clinvar/262623 ^@ NM_152263.3(TPM3):c.243+15_243+16delGA http://identifiers.org/clinvar/259919 ^@ NM_006118.3(HAX1):c.53+14C>T http://identifiers.org/clinvar/259917 ^@ NM_006118.3(HAX1):c.159T>C (p.Ser53=) http://identifiers.org/clinvar/259918 ^@ NM_006118.3(HAX1):c.423T>C (p.Phe141=) http://identifiers.org/clinvar/259920 ^@ NM_006118.3(HAX1):c.795T>C (p.Phe265=) http://identifiers.org/clinvar/260156 ^@ NM_007272.2(CTRC):c.180C>T (p.Gly60=) http://identifiers.org/clinvar/260157 ^@ NM_007272.2(CTRC):c.285C>T (p.Asp95=) http://identifiers.org/clinvar/260158 ^@ NM_007272.2(CTRC):c.514A>G (p.Lys172Glu) http://identifiers.org/clinvar/260159 ^@ NM_007272.2(CTRC):c.531G>A (p.Leu177=) http://identifiers.org/clinvar/256778 ^@ NM_000748.2(CHRNB2):c.150C>T (p.Thr50=) http://identifiers.org/clinvar/257475 ^@ NM_001111.4(ADAR):c.3443+8G>A http://identifiers.org/clinvar/257474 ^@ NM_001111.4(ADAR):c.2682G>A (p.Val894=) http://identifiers.org/clinvar/257476 ^@ NM_001111.4(ADAR):c.78G>A (p.Arg26=) http://identifiers.org/clinvar/256872 ^@ NM_001005741.2(GBA):c.1473C>T (p.Pro491=) http://identifiers.org/clinvar/256871 ^@ NM_001005741.2(GBA):c.1225-34C>A http://identifiers.org/clinvar/256875 ^@ NM_001005741.2(GBA):c.761+46A>G http://identifiers.org/clinvar/256874 ^@ NM_001005741.2(GBA):c.761+42A>C http://identifiers.org/clinvar/256873 ^@ NM_001005741.2(GBA):c.454+47G>A http://identifiers.org/clinvar/255797 ^@ NM_000298.5(PKLR):c.*13T>C http://identifiers.org/clinvar/255798 ^@ NM_000298.5(PKLR):c.1705C>A (p.Arg569=) http://identifiers.org/clinvar/257696 ^@ NM_001256821.1(RIT1):c.303C>T (p.Ala101=) http://identifiers.org/clinvar/262796 ^@ NM_170707.3(LMNA):c.936+47C>T http://identifiers.org/clinvar/262793 ^@ NM_170707.3(LMNA):c.1158-43A>G http://identifiers.org/clinvar/262794 ^@ NM_170707.3(LMNA):c.1380+37C>T http://identifiers.org/clinvar/262795 ^@ NM_170707.3(LMNA):c.1488+33G>T http://identifiers.org/clinvar/261575 ^@ NM_022367.3(SEMA4A):c.1434+20T>G http://identifiers.org/clinvar/261576 ^@ NM_022367.3(SEMA4A):c.1716C>T (p.Pro572=) http://identifiers.org/clinvar/258958 ^@ NM_003126.2(SPTA1):c.7095A>G (p.Ala2365=) http://identifiers.org/clinvar/258957 ^@ NM_003126.2(SPTA1):c.6794T>C (p.Ile2265Thr) http://identifiers.org/clinvar/258956 ^@ NM_003126.2(SPTA1):c.6672A>C (p.Glu2224Asp) http://identifiers.org/clinvar/258955 ^@ NM_003126.2(SPTA1):c.6549-12G>A http://identifiers.org/clinvar/258954 ^@ NM_003126.2(SPTA1):c.6531-12C>T http://identifiers.org/clinvar/258953 ^@ NM_003126.2(SPTA1):c.6437A>G (p.Gln2146Arg) http://identifiers.org/clinvar/258952 ^@ NM_003126.2(SPTA1):c.6112C>T (p.Leu2038=) http://identifiers.org/clinvar/258951 ^@ NM_003126.2(SPTA1):c.6046C>T (p.Arg2016Cys) http://identifiers.org/clinvar/258950 ^@ NM_003126.2(SPTA1):c.5992G>C (p.Ala1998Pro) http://identifiers.org/clinvar/258949 ^@ NM_003126.2(SPTA1):c.5958C>T (p.Pro1986=) http://identifiers.org/clinvar/258948 ^@ NM_003126.2(SPTA1):c.5572C>G (p.Leu1858Val) http://identifiers.org/clinvar/258947 ^@ NM_003126.2(SPTA1):c.5507A>G (p.Asn1836Ser) http://identifiers.org/clinvar/258946 ^@ NM_003126.2(SPTA1):c.5310+20T>C http://identifiers.org/clinvar/258945 ^@ NM_003126.2(SPTA1):c.5292C>A (p.Ala1764=) http://identifiers.org/clinvar/258944 ^@ NM_003126.2(SPTA1):c.5118C>T (p.His1706=) http://identifiers.org/clinvar/258943 ^@ NM_003126.2(SPTA1):c.5077A>C (p.Lys1693Gln) http://identifiers.org/clinvar/258942 ^@ NM_003126.2(SPTA1):c.4702T>C (p.Cys1568Arg) http://identifiers.org/clinvar/258940 ^@ NM_003126.2(SPTA1):c.4490G>A (p.Gly1497Glu) http://identifiers.org/clinvar/258939 ^@ NM_003126.2(SPTA1):c.4477C>T (p.Arg1493Trp) http://identifiers.org/clinvar/258938 ^@ NM_003126.2(SPTA1):c.4453C>T (p.Leu1485Phe) http://identifiers.org/clinvar/258937 ^@ NM_003126.2(SPTA1):c.4344G>A (p.Gly1448=) http://identifiers.org/clinvar/258936 ^@ NM_003126.2(SPTA1):c.4339-46A>G http://identifiers.org/clinvar/258935 ^@ NM_003126.2(SPTA1):c.4195-12G>A http://identifiers.org/clinvar/258934 ^@ NM_003126.2(SPTA1):c.3989G>T (p.Arg1330Ile) http://identifiers.org/clinvar/258933 ^@ NM_003126.2(SPTA1):c.3960C>T (p.Asp1320=) http://identifiers.org/clinvar/258931 ^@ NM_003126.2(SPTA1):c.3693C>T (p.Asp1231=) http://identifiers.org/clinvar/258930 ^@ NM_003126.2(SPTA1):c.3570-12C>T http://identifiers.org/clinvar/258929 ^@ NM_003126.2(SPTA1):c.3487T>G (p.Ser1163Ala) http://identifiers.org/clinvar/258928 ^@ NM_003126.2(SPTA1):c.3477+15C>T http://identifiers.org/clinvar/258927 ^@ NM_003126.2(SPTA1):c.3066T>C (p.His1022=) http://identifiers.org/clinvar/258926 ^@ NM_003126.2(SPTA1):c.2874G>A (p.Leu958=) http://identifiers.org/clinvar/258925 ^@ NM_003126.2(SPTA1):c.2870C>T (p.Ala957Val) http://identifiers.org/clinvar/258924 ^@ NM_003126.2(SPTA1):c.2757A>G (p.Glu919=) http://identifiers.org/clinvar/258923 ^@ NM_003126.2(SPTA1):c.2558C>G (p.Thr853Arg) http://identifiers.org/clinvar/258922 ^@ NM_003126.2(SPTA1):c.2493T>G (p.Leu831=) http://identifiers.org/clinvar/258921 ^@ NM_003126.2(SPTA1):c.2425A>G (p.Ile809Val) http://identifiers.org/clinvar/258919 ^@ NM_003126.2(SPTA1):c.2102G>A (p.Arg701His) http://identifiers.org/clinvar/258918 ^@ NM_003126.2(SPTA1):c.1958A>G (p.Tyr653Cys) http://identifiers.org/clinvar/258917 ^@ NM_003126.2(SPTA1):c.1350+14A>T http://identifiers.org/clinvar/258915 ^@ NM_003126.2(SPTA1):c.1078A>T (p.Thr360Ser) http://identifiers.org/clinvar/258963 ^@ NM_003126.2(SPTA1):c.958-10C>A http://identifiers.org/clinvar/258962 ^@ NM_003126.2(SPTA1):c.942T>A (p.Ala314=) http://identifiers.org/clinvar/258961 ^@ NM_003126.2(SPTA1):c.915T>C (p.Ser305=) http://identifiers.org/clinvar/258960 ^@ NM_003126.2(SPTA1):c.867T>C (p.Ser289=) http://identifiers.org/clinvar/258959 ^@ NM_003126.2(SPTA1):c.813-7A>T http://identifiers.org/clinvar/258941 ^@ NM_003126.2(SPTA1):c.454G>A (p.Asp152Asn) http://identifiers.org/clinvar/258932 ^@ NM_003126.2(SPTA1):c.390+17T>C http://identifiers.org/clinvar/258916 ^@ NM_003126.2(SPTA1):c.126C>T (p.Val42=) http://identifiers.org/clinvar/258920 ^@ NM_003126.2(SPTA1):c.24+3A>G http://identifiers.org/clinvar/256763 ^@ NM_000702.3(ATP1A2):c.1652-11C>G http://identifiers.org/clinvar/256764 ^@ NM_000702.3(ATP1A2):c.3034+14C>T http://identifiers.org/clinvar/258820 ^@ NM_002857.3(PEX19):c.879T>C (p.Gly293=) http://identifiers.org/clinvar/259392 ^@ NM_004431.4(EPHA2):c.2874C>T (p.Ile958=) http://identifiers.org/clinvar/259391 ^@ NM_004431.4(EPHA2):c.2627G>A (p.Arg876His) http://identifiers.org/clinvar/259390 ^@ NM_004431.4(EPHA2):c.2352C>T (p.Thr784=) http://identifiers.org/clinvar/259389 ^@ NM_004431.4(EPHA2):c.1983C>T (p.Leu661=) http://identifiers.org/clinvar/259388 ^@ NM_004431.4(EPHA2):c.1738+16C>T http://identifiers.org/clinvar/259387 ^@ NM_004431.4(EPHA2):c.1314G>A (p.Glu438=) http://identifiers.org/clinvar/259386 ^@ NM_004431.4(EPHA2):c.1171G>A (p.Gly391Arg) http://identifiers.org/clinvar/259398 ^@ NM_004431.4(EPHA2):c.987C>T (p.Pro329=) http://identifiers.org/clinvar/259396 ^@ NM_004431.4(EPHA2):c.824-11G>A http://identifiers.org/clinvar/259395 ^@ NM_004431.4(EPHA2):c.648C>T (p.Ala216=) http://identifiers.org/clinvar/259394 ^@ NM_004431.4(EPHA2):c.573G>A (p.Leu191=) http://identifiers.org/clinvar/259393 ^@ NM_004431.4(EPHA2):c.570G>A (p.Ala190=) http://identifiers.org/clinvar/259397 ^@ NM_004431.4(EPHA2):c.86-9C>T http://identifiers.org/clinvar/259936 ^@ NM_006182.2(DDR2):c.83-39C>G http://identifiers.org/clinvar/259934 ^@ NM_006182.2(DDR2):c.510C>T (p.Thr170=) http://identifiers.org/clinvar/259935 ^@ NM_006182.2(DDR2):c.699C>T (p.Thr233=) http://identifiers.org/clinvar/259929 ^@ NM_006182.2(DDR2):c.1260C>G (p.Leu420=) http://identifiers.org/clinvar/259930 ^@ NM_006182.2(DDR2):c.1504+25T>C http://identifiers.org/clinvar/259931 ^@ NM_006182.2(DDR2):c.1505-20C>T http://identifiers.org/clinvar/259932 ^@ NM_006182.2(DDR2):c.1856+32G>T http://identifiers.org/clinvar/259933 ^@ NM_006182.2(DDR2):c.2481G>T (p.Leu827=) http://identifiers.org/clinvar/255215 ^@ NM_000130.4(F5):c.6665A>G (p.Asp2222Gly) http://identifiers.org/clinvar/255214 ^@ NM_000130.4(F5):c.6443T>C (p.Met2148Thr) http://identifiers.org/clinvar/255213 ^@ NM_000130.4(F5):c.6194-20C>A http://identifiers.org/clinvar/255211 ^@ NM_000130.4(F5):c.5419+12A>G http://identifiers.org/clinvar/255210 ^@ NM_000130.4(F5):c.5290A>G (p.Met1764Val) http://identifiers.org/clinvar/255209 ^@ NM_000130.4(F5):c.5177G>A (p.Arg1726Gln) http://identifiers.org/clinvar/255208 ^@ NM_000130.4(F5):c.4095C>T (p.Thr1365=) http://identifiers.org/clinvar/255206 ^@ NM_000130.4(F5):c.3948C>T (p.Leu1316=) http://identifiers.org/clinvar/255205 ^@ NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) http://identifiers.org/clinvar/255204 ^@ NM_000130.4(F5):c.3804T>C (p.Ser1268=) http://identifiers.org/clinvar/255202 ^@ NM_000130.4(F5):c.2773A>G (p.Lys925Glu) http://identifiers.org/clinvar/255201 ^@ NM_000130.4(F5):c.2594A>G (p.His865Arg) http://identifiers.org/clinvar/255200 ^@ NM_000130.4(F5):c.2573A>G (p.Lys858Arg) http://identifiers.org/clinvar/255199 ^@ NM_000130.4(F5):c.2450A>C (p.Asn817Thr) http://identifiers.org/clinvar/255198 ^@ NM_000130.4(F5):c.2425C>T (p.Pro809Ser) http://identifiers.org/clinvar/255196 ^@ NM_000130.4(F5):c.2301A>G (p.Ser767=) http://identifiers.org/clinvar/255195 ^@ NM_000130.4(F5):c.2289A>G (p.Glu763=) http://identifiers.org/clinvar/255194 ^@ NM_000130.4(F5):c.2235T>C (p.Asn745=) http://identifiers.org/clinvar/255193 ^@ NM_000130.4(F5):c.2208C>T (p.Ile736=) http://identifiers.org/clinvar/255192 ^@ NM_000130.4(F5):c.1926C>A (p.Thr642=) http://identifiers.org/clinvar/255191 ^@ NM_000130.4(F5):c.1716G>A (p.Glu572=) http://identifiers.org/clinvar/255190 ^@ NM_000130.4(F5):c.1380C>T (p.Asn460=) http://identifiers.org/clinvar/255189 ^@ NM_000130.4(F5):c.1242A>G (p.Lys414=) http://identifiers.org/clinvar/255188 ^@ NM_000130.4(F5):c.1238T>C (p.Met413Thr) http://identifiers.org/clinvar/255217 ^@ NM_000130.4(F5):c.816C>T (p.Asn272=) http://identifiers.org/clinvar/255216 ^@ NM_000130.4(F5):c.730+7C>T http://identifiers.org/clinvar/255212 ^@ NM_000130.4(F5):c.552G>T (p.Ser184=) http://identifiers.org/clinvar/255207 ^@ NM_000130.4(F5):c.405G>A (p.Ala135=) http://identifiers.org/clinvar/255203 ^@ NM_000130.4(F5):c.319G>C (p.Asp107His) http://identifiers.org/clinvar/255197 ^@ NM_000130.4(F5):c.237A>G (p.Gln79=) http://identifiers.org/clinvar/261542 ^@ NM_022089.3(ATP13A2):c.3235+17G>A http://identifiers.org/clinvar/261541 ^@ NM_022089.3(ATP13A2):c.1614C>T (p.Pro538=) http://identifiers.org/clinvar/261540 ^@ NM_022089.3(ATP13A2):c.132A>G (p.Pro44=) http://identifiers.org/clinvar/258891 ^@ NM_003000.2(SDHB):c.765+13G>A http://identifiers.org/clinvar/258890 ^@ NM_003000.2(SDHB):c.424-19_424-14delTTCTTC http://identifiers.org/clinvar/258889 ^@ NM_003000.2(SDHB):c.201-36G>T http://identifiers.org/clinvar/262629 ^@ NM_152281.2(GORAB):c.958G>A (p.Glu320Lys) http://identifiers.org/clinvar/260067 ^@ NM_006894.5(FMO3):c.132+1G>T http://identifiers.org/clinvar/260070 ^@ NM_006894.5(FMO3):c.321+31C>A http://identifiers.org/clinvar/260071 ^@ NM_006894.5(FMO3):c.321+44_321+46delAAG http://identifiers.org/clinvar/260072 ^@ NM_006894.5(FMO3):c.394G>C (p.Asp132His) http://identifiers.org/clinvar/260073 ^@ NM_006894.5(FMO3):c.441C>T (p.Ser147=) http://identifiers.org/clinvar/260074 ^@ NM_006894.5(FMO3):c.485-22G>A http://identifiers.org/clinvar/260075 ^@ NM_006894.5(FMO3):c.585G>C (p.Ser195=) http://identifiers.org/clinvar/260076 ^@ NM_006894.5(FMO3):c.627+10C>G http://identifiers.org/clinvar/260077 ^@ NM_006894.5(FMO3):c.830T>C (p.Val277Ala) http://identifiers.org/clinvar/260078 ^@ NM_006894.5(FMO3):c.855C>T (p.Asn285=) http://identifiers.org/clinvar/260079 ^@ NM_006894.5(FMO3):c.969C>T (p.Asp323=) http://identifiers.org/clinvar/260064 ^@ NM_006894.5(FMO3):c.1183+35T>C http://identifiers.org/clinvar/260065 ^@ NM_006894.5(FMO3):c.1184-32dupT http://identifiers.org/clinvar/260066 ^@ NM_006894.5(FMO3):c.1221T>C (p.Asn407=) http://identifiers.org/clinvar/260068 ^@ NM_006894.5(FMO3):c.1479G>A (p.Ser493=) http://identifiers.org/clinvar/260069 ^@ NM_006894.5(FMO3):c.1595C>T (p.Thr532Ile) http://identifiers.org/clinvar/256247 ^@ NM_000488.3(SERPINC1):c.1011A>G (p.Gln337=) http://identifiers.org/clinvar/256248 ^@ NM_000488.3(SERPINC1):c.981A>G (p.Val327=) http://identifiers.org/clinvar/260425 ^@ NM_014625.3(NPHS2):c.1038A>G (p.Leu346=) http://identifiers.org/clinvar/260432 ^@ NM_014625.3(NPHS2):c.954C>T (p.Ala318=) http://identifiers.org/clinvar/260430 ^@ NM_014625.3(NPHS2):c.873+7A>G http://identifiers.org/clinvar/260429 ^@ NM_014625.3(NPHS2):c.725C>T (p.Ala242Val) http://identifiers.org/clinvar/260428 ^@ NM_014625.3(NPHS2):c.456T>C (p.Leu152=) http://identifiers.org/clinvar/260427 ^@ NM_014625.3(NPHS2):c.451+9dupA http://identifiers.org/clinvar/260426 ^@ NM_014625.3(NPHS2):c.288C>T (p.Ser96=) http://identifiers.org/clinvar/260424 ^@ NM_014625.3(NPHS2):c.102A>G (p.Gly34=) http://identifiers.org/clinvar/260431 ^@ NM_014625.3(NPHS2):c.87C>G (p.Ala29=) http://identifiers.org/clinvar/257699 ^@ NM_001267578.1(TOR1AIP1):c.437T>C (p.Met146Thr) http://identifiers.org/clinvar/257700 ^@ NM_001267578.1(TOR1AIP1):c.475+17dupT http://identifiers.org/clinvar/257701 ^@ NM_001267578.1(TOR1AIP1):c.554-1G>A http://identifiers.org/clinvar/257702 ^@ NM_001267578.1(TOR1AIP1):c.579G>A (p.Arg193=) http://identifiers.org/clinvar/257703 ^@ NM_001267578.1(TOR1AIP1):c.830C>G (p.Pro277Arg) http://identifiers.org/clinvar/257704 ^@ NM_001267578.1(TOR1AIP1):c.882A>C (p.Gln294His) http://identifiers.org/clinvar/257705 ^@ NM_001267578.1(TOR1AIP1):c.967+17A>G http://identifiers.org/clinvar/257698 ^@ NM_001267578.1(TOR1AIP1):c.1506G>A (p.Ala502=) http://identifiers.org/clinvar/257697 ^@ NM_001267578.1(TOR1AIP1):c.*11delA http://identifiers.org/clinvar/262223 ^@ NM_033343.3(LHX4):c.450C>T (p.Asn150=) http://identifiers.org/clinvar/262224 ^@ NM_033343.3(LHX4):c.778+14G>T http://identifiers.org/clinvar/262225 ^@ NM_033343.3(LHX4):c.983A>G (p.Asn328Ser) http://identifiers.org/clinvar/259785 ^@ NM_005562.2(LAMC2):c.268+14A>G http://identifiers.org/clinvar/259787 ^@ NM_005562.2(LAMC2):c.297C>T (p.Ser99=) http://identifiers.org/clinvar/259789 ^@ NM_005562.2(LAMC2):c.483C>T (p.Val161=) http://identifiers.org/clinvar/259790 ^@ NM_005562.2(LAMC2):c.798T>G (p.Gly266=) http://identifiers.org/clinvar/259783 ^@ NM_005562.2(LAMC2):c.2035C>T (p.Leu679Phe) http://identifiers.org/clinvar/259784 ^@ NM_005562.2(LAMC2):c.2198G>C (p.Ser733Thr) http://identifiers.org/clinvar/259786 ^@ NM_005562.2(LAMC2):c.2688G>A (p.Gln896=) http://identifiers.org/clinvar/259788 ^@ NM_005562.2(LAMC2):c.3367C>T (p.Leu1123=) http://identifiers.org/clinvar/256115 ^@ NM_000433.3(NCF2):c.1167C>A (p.His389Gln) http://identifiers.org/clinvar/256114 ^@ NM_000433.3(NCF2):c.1001-10T>G http://identifiers.org/clinvar/256116 ^@ NM_000433.3(NCF2):c.542A>G (p.Lys181Arg) http://identifiers.org/clinvar/261739 ^@ NM_024529.4(CDC73):c.-10G>T http://identifiers.org/clinvar/261740 ^@ NM_024529.4(CDC73):c.308-16C>A http://identifiers.org/clinvar/258504 ^@ NM_001994.2(F13B):c.1806T>C (p.Asn602=) http://identifiers.org/clinvar/258503 ^@ NM_001994.2(F13B):c.1556-13C>A http://identifiers.org/clinvar/258505 ^@ NM_001994.2(F13B):c.456A>G (p.Thr152=) http://identifiers.org/clinvar/261007 ^@ NM_018136.4(ASPM):c.2420-20G>A http://identifiers.org/clinvar/261006 ^@ NM_018136.4(ASPM):c.1989A>G (p.Ala663=) http://identifiers.org/clinvar/263260 ^@ NM_201253.2(CRB1):c.849-35T>C http://identifiers.org/clinvar/263259 ^@ NM_201253.2(CRB1):c.*28T>C http://identifiers.org/clinvar/254851 ^@ NM_000069.2(CACNA1S):c.5574C>T (p.Leu1858=) http://identifiers.org/clinvar/254850 ^@ NM_000069.2(CACNA1S):c.5570G>A (p.Ser1857Asn) http://identifiers.org/clinvar/254849 ^@ NM_000069.2(CACNA1S):c.5490_5497delAGAGCTAC (p.Leu1832Argfs) http://identifiers.org/clinvar/254847 ^@ NM_000069.2(CACNA1S):c.5399T>C (p.Leu1800Ser) http://identifiers.org/clinvar/254846 ^@ NM_000069.2(CACNA1S):c.5371-19C>T http://identifiers.org/clinvar/254845 ^@ NM_000069.2(CACNA1S):c.5135-7C>T http://identifiers.org/clinvar/254844 ^@ NM_000069.2(CACNA1S):c.5134+8C>T http://identifiers.org/clinvar/254843 ^@ NM_000069.2(CACNA1S):c.5079G>A (p.Glu1693=) http://identifiers.org/clinvar/254842 ^@ NM_000069.2(CACNA1S):c.4973G>A (p.Arg1658His) http://identifiers.org/clinvar/254841 ^@ NM_000069.2(CACNA1S):c.4860C>T (p.Pro1620=) http://identifiers.org/clinvar/254840 ^@ NM_000069.2(CACNA1S):c.4686T>C (p.Ile1562=) http://identifiers.org/clinvar/254839 ^@ NM_000069.2(CACNA1S):c.4668+19T>C http://identifiers.org/clinvar/254838 ^@ NM_000069.2(CACNA1S):c.4543+7G>A http://identifiers.org/clinvar/254837 ^@ NM_000069.2(CACNA1S):c.4350C>A (p.Gly1450=) http://identifiers.org/clinvar/254835 ^@ NM_000069.2(CACNA1S):c.3953+7G>A http://identifiers.org/clinvar/254834 ^@ NM_000069.2(CACNA1S):c.3953+6C>T http://identifiers.org/clinvar/254831 ^@ NM_000069.2(CACNA1S):c.3822C>T (p.Ile1274=) http://identifiers.org/clinvar/254830 ^@ NM_000069.2(CACNA1S):c.3811G>A (p.Ala1271Thr) http://identifiers.org/clinvar/254829 ^@ NM_000069.2(CACNA1S):c.3796-9G>A http://identifiers.org/clinvar/254828 ^@ NM_000069.2(CACNA1S):c.3796-11C>T http://identifiers.org/clinvar/254827 ^@ NM_000069.2(CACNA1S):c.3795+3G>A http://identifiers.org/clinvar/254826 ^@ NM_000069.2(CACNA1S):c.3525+18C>T http://identifiers.org/clinvar/254825 ^@ NM_000069.2(CACNA1S):c.3261A>G (p.Gln1087=) http://identifiers.org/clinvar/254824 ^@ NM_000069.2(CACNA1S):c.3053+13T>C http://identifiers.org/clinvar/254823 ^@ NM_000069.2(CACNA1S):c.2906+17G>A http://identifiers.org/clinvar/254822 ^@ NM_000069.2(CACNA1S):c.2748C>T (p.His916=) http://identifiers.org/clinvar/254821 ^@ NM_000069.2(CACNA1S):c.2746-14C>T http://identifiers.org/clinvar/254820 ^@ NM_000069.2(CACNA1S):c.2745+14C>T http://identifiers.org/clinvar/254819 ^@ NM_000069.2(CACNA1S):c.2673C>T (p.Ser891=) http://identifiers.org/clinvar/254818 ^@ NM_000069.2(CACNA1S):c.2613G>T (p.Leu871=) http://identifiers.org/clinvar/254816 ^@ NM_000069.2(CACNA1S):c.2480T>C (p.Met827Thr) http://identifiers.org/clinvar/254815 ^@ NM_000069.2(CACNA1S):c.2454G>A (p.Ala818=) http://identifiers.org/clinvar/254814 ^@ NM_000069.2(CACNA1S):c.2403T>C (p.Phe801=) http://identifiers.org/clinvar/254813 ^@ NM_000069.2(CACNA1S):c.2361-13C>T http://identifiers.org/clinvar/254812 ^@ NM_000069.2(CACNA1S):c.2227+15G>A http://identifiers.org/clinvar/254810 ^@ NM_000069.2(CACNA1S):c.2063+7G>T http://identifiers.org/clinvar/254809 ^@ NM_000069.2(CACNA1S):c.1995C>T (p.Ala665=) http://identifiers.org/clinvar/254808 ^@ NM_000069.2(CACNA1S):c.1948+19G>A http://identifiers.org/clinvar/254807 ^@ NM_000069.2(CACNA1S):c.1948+18G>A http://identifiers.org/clinvar/254806 ^@ NM_000069.2(CACNA1S):c.1948+10C>T http://identifiers.org/clinvar/254805 ^@ NM_000069.2(CACNA1S):c.1948+10C>G http://identifiers.org/clinvar/254804 ^@ NM_000069.2(CACNA1S):c.1828-5T>C http://identifiers.org/clinvar/254803 ^@ NM_000069.2(CACNA1S):c.1817G>A (p.Ser606Asn) http://identifiers.org/clinvar/254802 ^@ NM_000069.2(CACNA1S):c.1711G>A (p.Val571Ile) http://identifiers.org/clinvar/254801 ^@ NM_000069.2(CACNA1S):c.1564C>T (p.Leu522=) http://identifiers.org/clinvar/254800 ^@ NM_000069.2(CACNA1S):c.1551T>C (p.Gly517=) http://identifiers.org/clinvar/254799 ^@ NM_000069.2(CACNA1S):c.1548G>A (p.Ser516=) http://identifiers.org/clinvar/254797 ^@ NM_000069.2(CACNA1S):c.1515T>C (p.Cys505=) http://identifiers.org/clinvar/254796 ^@ NM_000069.2(CACNA1S):c.1506C>T (p.Phe502=) http://identifiers.org/clinvar/254795 ^@ NM_000069.2(CACNA1S):c.1491C>T (p.Asn497=) http://identifiers.org/clinvar/254794 ^@ NM_000069.2(CACNA1S):c.1458G>A (p.Leu486=) http://identifiers.org/clinvar/254793 ^@ NM_000069.2(CACNA1S):c.1452C>T (p.Tyr484=) http://identifiers.org/clinvar/254791 ^@ NM_000069.2(CACNA1S):c.1393+16G>A http://identifiers.org/clinvar/254792 ^@ NM_000069.2(CACNA1S):c.1393+7C>T http://identifiers.org/clinvar/254790 ^@ NM_000069.2(CACNA1S):c.1383C>G (p.Thr461=) http://identifiers.org/clinvar/254789 ^@ NM_000069.2(CACNA1S):c.1373T>A (p.Leu458His) http://identifiers.org/clinvar/254788 ^@ NM_000069.2(CACNA1S):c.1371T>G (p.Pro457=) http://identifiers.org/clinvar/254856 ^@ NM_000069.2(CACNA1S):c.984G>T (p.Leu328=) http://identifiers.org/clinvar/254855 ^@ NM_000069.2(CACNA1S):c.895T>C (p.Tyr299His) http://identifiers.org/clinvar/254854 ^@ NM_000069.2(CACNA1S):c.858C>T (p.Tyr286=) http://identifiers.org/clinvar/254853 ^@ NM_000069.2(CACNA1S):c.773G>A (p.Gly258Asp) http://identifiers.org/clinvar/254852 ^@ NM_000069.2(CACNA1S):c.597C>T (p.Ile199=) http://identifiers.org/clinvar/254848 ^@ NM_000069.2(CACNA1S):c.541+9C>T http://identifiers.org/clinvar/254836 ^@ NM_000069.2(CACNA1S):c.399-14C>T http://identifiers.org/clinvar/254833 ^@ NM_000069.2(CACNA1S):c.394C>A (p.Leu132Met) http://identifiers.org/clinvar/254832 ^@ NM_000069.2(CACNA1S):c.383C>G (p.Thr128Ser) http://identifiers.org/clinvar/254817 ^@ NM_000069.2(CACNA1S):c.252C>T (p.Leu84=) http://identifiers.org/clinvar/254811 ^@ NM_000069.2(CACNA1S):c.206C>G (p.Ala69Gly) http://identifiers.org/clinvar/254798 ^@ NM_000069.2(CACNA1S):c.152+17G>C http://identifiers.org/clinvar/256861 ^@ NM_001005337.2(PKP1):c.36C>T (p.Tyr12=) http://identifiers.org/clinvar/256862 ^@ NM_001005337.2(PKP1):c.918C>T (p.Ala306=) http://identifiers.org/clinvar/256846 ^@ NM_001001430.2(TNNT2):c.781-33C>T http://identifiers.org/clinvar/256845 ^@ NM_001001430.2(TNNT2):c.571-32A>C http://identifiers.org/clinvar/256843 ^@ NM_001001430.2(TNNT2):c.134-50G>A http://identifiers.org/clinvar/256844 ^@ NM_001001430.2(TNNT2):c.42-29C>T http://identifiers.org/clinvar/256824 ^@ NM_000815.4(GABRD):c.69-19G>A http://identifiers.org/clinvar/256823 ^@ NM_000815.4(GABRD):c.330T>C (p.Gly110=) http://identifiers.org/clinvar/256825 ^@ NM_000815.4(GABRD):c.816C>T (p.Ser272=) http://identifiers.org/clinvar/256822 ^@ NM_000815.4(GABRD):c.1060-14C>T http://identifiers.org/clinvar/256380 ^@ NM_000537.3(REN):c.492+17T>G http://identifiers.org/clinvar/256379 ^@ NM_000537.3(REN):c.204A>C (p.Thr68=) http://identifiers.org/clinvar/260658 ^@ NM_015375.2(DSTYK):c.2028C>T (p.Phe676=) http://identifiers.org/clinvar/260657 ^@ NM_015375.2(DSTYK):c.1921T>C (p.Cys641Arg) http://identifiers.org/clinvar/262026 ^@ NM_032409.2(PINK1):c.189C>T (p.Leu63=) http://identifiers.org/clinvar/262027 ^@ NM_032409.2(PINK1):c.388-7A>G http://identifiers.org/clinvar/262028 ^@ NM_032409.2(PINK1):c.960-5G>A http://identifiers.org/clinvar/255595 ^@ NM_000228.2(LAMB3):c.3432A>G (p.Ser1144=) http://identifiers.org/clinvar/255591 ^@ NM_000228.2(LAMB3):c.2777C>A (p.Ala926Asp) http://identifiers.org/clinvar/255590 ^@ NM_000228.2(LAMB3):c.2702-12dupG http://identifiers.org/clinvar/255589 ^@ NM_000228.2(LAMB3):c.2673A>G (p.Leu891=) http://identifiers.org/clinvar/255588 ^@ NM_000228.2(LAMB3):c.2554A>T (p.Met852Leu) http://identifiers.org/clinvar/255587 ^@ NM_000228.2(LAMB3):c.1716T>C (p.Cys572=) http://identifiers.org/clinvar/255586 ^@ NM_000228.2(LAMB3):c.1579G>A (p.Val527Met) http://identifiers.org/clinvar/255585 ^@ NM_000228.2(LAMB3):c.1486-18G>A http://identifiers.org/clinvar/255583 ^@ NM_000228.2(LAMB3):c.1258C>G (p.Leu420Val) http://identifiers.org/clinvar/255582 ^@ NM_000228.2(LAMB3):c.1149G>A (p.Pro383=) http://identifiers.org/clinvar/255598 ^@ NM_000228.2(LAMB3):c.823-15C>T http://identifiers.org/clinvar/255597 ^@ NM_000228.2(LAMB3):c.822+33G>C http://identifiers.org/clinvar/255596 ^@ NM_000228.2(LAMB3):c.384C>T (p.Pro128=) http://identifiers.org/clinvar/255594 ^@ NM_000228.2(LAMB3):c.332A>G (p.Asp111Gly) http://identifiers.org/clinvar/255593 ^@ NM_000228.2(LAMB3):c.298+50T>A http://identifiers.org/clinvar/255592 ^@ NM_000228.2(LAMB3):c.291A>C (p.Ser97=) http://identifiers.org/clinvar/255584 ^@ NM_000228.2(LAMB3):c.138C>T (p.Thr46=) http://identifiers.org/clinvar/259922 ^@ NM_006147.3(IRF6):c.1153T>C (p.Leu385=) http://identifiers.org/clinvar/259921 ^@ NM_006147.3(IRF6):c.1101A>T (p.Pro367=) http://identifiers.org/clinvar/259928 ^@ NM_006147.3(IRF6):c.820G>A (p.Val274Ile) http://identifiers.org/clinvar/259927 ^@ NM_006147.3(IRF6):c.759T>C (p.Tyr253=) http://identifiers.org/clinvar/259926 ^@ NM_006147.3(IRF6):c.667+27C>G http://identifiers.org/clinvar/259925 ^@ NM_006147.3(IRF6):c.459G>T (p.Ser153=) http://identifiers.org/clinvar/259923 ^@ NM_006147.3(IRF6):c.175-5C>G http://identifiers.org/clinvar/259924 ^@ NM_006147.3(IRF6):c.175-9T>G http://identifiers.org/clinvar/262807 ^@ NM_172362.2(KCNH1):c.310+10G>A http://identifiers.org/clinvar/258087 ^@ NM_001397.2(ECE1):c.1782-4C>A http://identifiers.org/clinvar/258086 ^@ NM_001397.2(ECE1):c.1671-21_1671-20delinsGG http://identifiers.org/clinvar/258085 ^@ NM_001397.2(ECE1):c.1641T>C (p.Asp547=) http://identifiers.org/clinvar/258084 ^@ NM_001397.2(ECE1):c.1546C>T (p.Leu516=) http://identifiers.org/clinvar/258083 ^@ NM_001397.2(ECE1):c.1385G>A (p.Ser462Asn) http://identifiers.org/clinvar/258082 ^@ NM_001397.2(ECE1):c.1278+7C>T http://identifiers.org/clinvar/258081 ^@ NM_001397.2(ECE1):c.1164-5C>T http://identifiers.org/clinvar/258080 ^@ NM_001397.2(ECE1):c.1155C>T (p.Thr385=) http://identifiers.org/clinvar/258079 ^@ NM_001397.2(ECE1):c.1022C>T (p.Thr341Ile) http://identifiers.org/clinvar/258078 ^@ NM_001397.2(ECE1):c.1020+15G>A http://identifiers.org/clinvar/256230 ^@ NM_000478.5(ALPL):c.744C>T (p.Asp248=) http://identifiers.org/clinvar/256231 ^@ NM_000478.5(ALPL):c.792+45G>T http://identifiers.org/clinvar/256232 ^@ NM_000478.5(ALPL):c.793-31C>T http://identifiers.org/clinvar/256233 ^@ NM_000478.5(ALPL):c.862+20G>T http://identifiers.org/clinvar/256236 ^@ NM_000478.5(ALPL):c.863-46G>A http://identifiers.org/clinvar/256235 ^@ NM_000478.5(ALPL):c.863-15T>A http://identifiers.org/clinvar/256234 ^@ NM_000478.5(ALPL):c.863-12C>G http://identifiers.org/clinvar/256237 ^@ NM_000478.5(ALPL):c.863-7T>C http://identifiers.org/clinvar/256238 ^@ NM_000478.5(ALPL):c.876A>G (p.Pro292=) http://identifiers.org/clinvar/256226 ^@ NM_000478.5(ALPL):c.1189+19G>T http://identifiers.org/clinvar/256227 ^@ NM_000478.5(ALPL):c.1309+46C>T http://identifiers.org/clinvar/256228 ^@ NM_000478.5(ALPL):c.1404G>A (p.Ala468=) http://identifiers.org/clinvar/256229 ^@ NM_000478.5(ALPL):c.1542G>T (p.Ala514=) http://identifiers.org/clinvar/263276 ^@ NM_206933.2(USH2A):c.5857+17A>C http://identifiers.org/clinvar/263275 ^@ NM_206933.2(USH2A):c.4335T>G (p.Thr1445=) http://identifiers.org/clinvar/263274 ^@ NM_206933.2(USH2A):c.1840+19C>G http://identifiers.org/clinvar/259004 ^@ NM_003238.4(TGFB2):c.1008C>T (p.His336=) http://identifiers.org/clinvar/258901 ^@ NM_003036.3(SKI):c.495C>T (p.Gly165=) http://identifiers.org/clinvar/262129 ^@ NM_032890.3(DISP1):c.307G>A (p.Glu103Lys) http://identifiers.org/clinvar/262130 ^@ NM_032890.3(DISP1):c.309G>T (p.Glu103Asp) http://identifiers.org/clinvar/262132 ^@ NM_032890.3(DISP1):c.890-14T>C http://identifiers.org/clinvar/262128 ^@ NM_032890.3(DISP1):c.2835A>G (p.Lys945=) http://identifiers.org/clinvar/262131 ^@ NM_032890.3(DISP1):c.3822A>C (p.Pro1274=) http://identifiers.org/clinvar/258619 ^@ NM_002296.3(LBR):c.461G>A (p.Ser154Asn) http://identifiers.org/clinvar/258618 ^@ NM_002296.3(LBR):c.366+16C>T http://identifiers.org/clinvar/258617 ^@ NM_002296.3(LBR):c.261T>C (p.Pro87=) http://identifiers.org/clinvar/258616 ^@ NM_002296.3(LBR):c.117G>A (p.Val39=) http://identifiers.org/clinvar/259008 ^@ NM_003240.4(LEFTY2):c.474C>T (p.Asn158=) http://identifiers.org/clinvar/259007 ^@ NM_003240.4(LEFTY2):c.375C>T (p.Val125=) http://identifiers.org/clinvar/259006 ^@ NM_003240.4(LEFTY2):c.348C>T (p.Ala116=) http://identifiers.org/clinvar/259005 ^@ NM_003240.4(LEFTY2):c.169G>A (p.Val57Met) http://identifiers.org/clinvar/256184 ^@ NM_000447.2(PSEN2):c.69T>C (p.Ala23=) http://identifiers.org/clinvar/256180 ^@ NM_000447.2(PSEN2):c.129C>T (p.Asn43=) http://identifiers.org/clinvar/256181 ^@ NM_000447.2(PSEN2):c.261C>T (p.His87=) http://identifiers.org/clinvar/256182 ^@ NM_000447.2(PSEN2):c.366G>A (p.Thr122=) http://identifiers.org/clinvar/256183 ^@ NM_000447.2(PSEN2):c.441C>T (p.Ser147=) http://identifiers.org/clinvar/256185 ^@ NM_000447.2(PSEN2):c.708T>C (p.Ser236=) http://identifiers.org/clinvar/256186 ^@ NM_000447.2(PSEN2):c.756G>C (p.Ala252=) http://identifiers.org/clinvar/256187 ^@ NM_000447.2(PSEN2):c.903G>T (p.Thr301=) http://identifiers.org/clinvar/261256 ^@ NM_020435.3(GJC2):c.147C>T (p.Asp49=) http://identifiers.org/clinvar/261257 ^@ NM_020435.3(GJC2):c.966G>C (p.Ala322=) http://identifiers.org/clinvar/257448 ^@ NM_001100.3(ACTA1):c.808+13C>T http://identifiers.org/clinvar/257447 ^@ NM_001100.3(ACTA1):c.617-5C>T http://identifiers.org/clinvar/257446 ^@ NM_001100.3(ACTA1):c.454+36C>T http://identifiers.org/clinvar/257445 ^@ NM_001100.3(ACTA1):c.453C>A (p.Thr151=) http://identifiers.org/clinvar/257443 ^@ NM_001100.3(ACTA1):c.165C>T (p.Tyr55=) http://identifiers.org/clinvar/257442 ^@ NM_001100.3(ACTA1):c.129+31C>A http://identifiers.org/clinvar/257444 ^@ NM_001100.3(ACTA1):c.30C>T (p.Leu10=) http://identifiers.org/clinvar/258899 ^@ NM_003036.3(SKI):c.1211+17C>T http://identifiers.org/clinvar/258900 ^@ NM_003036.3(SKI):c.1211+19C>T http://identifiers.org/clinvar/254725 ^@ NM_000029.3(AGT):c.1116A>G (p.Leu372=) http://identifiers.org/clinvar/260361 ^@ NM_014236.3(GNPAT):c.26C>T (p.Ser9Phe) http://identifiers.org/clinvar/260362 ^@ NM_014236.3(GNPAT):c.525A>G (p.Leu175=) http://identifiers.org/clinvar/260363 ^@ NM_014236.3(GNPAT):c.915G>A (p.Glu305=) http://identifiers.org/clinvar/260360 ^@ NM_014236.3(GNPAT):c.1212T>C (p.Ala404=) http://identifiers.org/clinvar/262651 ^@ NM_152490.4(B3GALNT2):c.321G= (p.Glu107=) http://identifiers.org/clinvar/262650 ^@ NM_152490.4(B3GALNT2):c.279A>C (p.Ile93=) http://identifiers.org/clinvar/262649 ^@ NM_152490.4(B3GALNT2):c.152A>G (p.Tyr51Cys) http://identifiers.org/clinvar/262648 ^@ NM_152490.4(B3GALNT2):c.-20G>C http://identifiers.org/clinvar/254909 ^@ NM_000081.3(LYST):c.11039-24C>T http://identifiers.org/clinvar/254908 ^@ NM_000081.3(LYST):c.10564+43G>A http://identifiers.org/clinvar/254907 ^@ NM_000081.3(LYST):c.10374+33A>G http://identifiers.org/clinvar/254906 ^@ NM_000081.3(LYST):c.10110T>C (p.Ala3370=) http://identifiers.org/clinvar/254941 ^@ NM_000081.3(LYST):c.8411G>A (p.Gly2804Asp) http://identifiers.org/clinvar/254940 ^@ NM_000081.3(LYST):c.7857T>C (p.His2619=) http://identifiers.org/clinvar/254939 ^@ NM_000081.3(LYST):c.7506A>G (p.Gln2502=) http://identifiers.org/clinvar/254938 ^@ NM_000081.3(LYST):c.7137A>C (p.Leu2379=) http://identifiers.org/clinvar/254937 ^@ NM_000081.3(LYST):c.7059+7G>A http://identifiers.org/clinvar/254936 ^@ NM_000081.3(LYST):c.6900G>A (p.Leu2300=) http://identifiers.org/clinvar/254935 ^@ NM_000081.3(LYST):c.6881+44A>G http://identifiers.org/clinvar/254934 ^@ NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) http://identifiers.org/clinvar/254933 ^@ NM_000081.3(LYST):c.6782G>A (p.Arg2261His) http://identifiers.org/clinvar/254932 ^@ NM_000081.3(LYST):c.6630A>G (p.Glu2210=) http://identifiers.org/clinvar/254931 ^@ NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) http://identifiers.org/clinvar/254930 ^@ NM_000081.3(LYST):c.5923-19G>T http://identifiers.org/clinvar/254929 ^@ NM_000081.3(LYST):c.5847G>C (p.Gln1949His) http://identifiers.org/clinvar/254927 ^@ NM_000081.3(LYST):c.5373G>A (p.Lys1791=) http://identifiers.org/clinvar/254926 ^@ NM_000081.3(LYST):c.5291G>C (p.Gly1764Ala) http://identifiers.org/clinvar/254925 ^@ NM_000081.3(LYST):c.5024-43T>G http://identifiers.org/clinvar/254924 ^@ NM_000081.3(LYST):c.5023+41C>T http://identifiers.org/clinvar/254923 ^@ NM_000081.3(LYST):c.4956A>G (p.Leu1652=) http://identifiers.org/clinvar/254922 ^@ NM_000081.3(LYST):c.4863-19T>C http://identifiers.org/clinvar/254921 ^@ NM_000081.3(LYST):c.4392C>T (p.Asn1464=) http://identifiers.org/clinvar/254920 ^@ NM_000081.3(LYST):c.3989A>C (p.Asp1330Ala) http://identifiers.org/clinvar/254919 ^@ NM_000081.3(LYST):c.3713-26G>A http://identifiers.org/clinvar/254918 ^@ NM_000081.3(LYST):c.3394-14T>C http://identifiers.org/clinvar/254917 ^@ NM_000081.3(LYST):c.3359G>T (p.Ser1120Ile) http://identifiers.org/clinvar/254916 ^@ NM_000081.3(LYST):c.3050G>A (p.Ser1017Asn) http://identifiers.org/clinvar/254915 ^@ NM_000081.3(LYST):c.2355T>C (p.Leu785=) http://identifiers.org/clinvar/254914 ^@ NM_000081.3(LYST):c.2316C>T (p.Asp772=) http://identifiers.org/clinvar/254913 ^@ NM_000081.3(LYST):c.1686G>C (p.Gln562His) http://identifiers.org/clinvar/254912 ^@ NM_000081.3(LYST):c.1683A>G (p.Leu561=) http://identifiers.org/clinvar/254910 ^@ NM_000081.3(LYST):c.1251A>G (p.Gln417=) http://identifiers.org/clinvar/254928 ^@ NM_000081.3(LYST):c.574T>G (p.Leu192Val) http://identifiers.org/clinvar/254911 ^@ NM_000081.3(LYST):c.153A>C (p.Gly51=) http://identifiers.org/clinvar/254942 ^@ NM_000081.3(LYST):c.9C>T (p.Thr3=) http://identifiers.org/clinvar/254905 ^@ NM_000081.3(LYST):c.-5C>T http://identifiers.org/clinvar/262598 ^@ NM_145861.2(EDARADD):c.-3G>A http://identifiers.org/clinvar/262600 ^@ NM_145861.2(EDARADD):c.27G>A (p.Met9Ile) http://identifiers.org/clinvar/262599 ^@ NM_145861.2(EDARADD):c.161-13T>C http://identifiers.org/clinvar/262601 ^@ NM_145861.2(EDARADD):c.308C>T (p.Ser103Phe) http://identifiers.org/clinvar/262602 ^@ NM_145861.2(EDARADD):c.369C>T (p.Asp123=) http://identifiers.org/clinvar/257206 ^@ NM_001035.2(RYR2):c.309+16A>G http://identifiers.org/clinvar/257204 ^@ NM_001035.2(RYR2):c.1828-49G>T http://identifiers.org/clinvar/257205 ^@ NM_001035.2(RYR2):c.2718+26A>G http://identifiers.org/clinvar/257207 ^@ NM_001035.2(RYR2):c.3423+49A>G http://identifiers.org/clinvar/257208 ^@ NM_001035.2(RYR2):c.3424-50G>A http://identifiers.org/clinvar/257209 ^@ NM_001035.2(RYR2):c.3598+16T>G http://identifiers.org/clinvar/257210 ^@ NM_001035.2(RYR2):c.4160+48A>G http://identifiers.org/clinvar/257211 ^@ NM_001035.2(RYR2):c.4275+35C>T http://identifiers.org/clinvar/257212 ^@ NM_001035.2(RYR2):c.4275+50T>C http://identifiers.org/clinvar/257214 ^@ NM_001035.2(RYR2):c.6556-41G>A http://identifiers.org/clinvar/257213 ^@ NM_001035.2(RYR2):c.6556-28A>G http://identifiers.org/clinvar/257215 ^@ NM_001035.2(RYR2):c.6792+50G>A http://identifiers.org/clinvar/257216 ^@ NM_001035.2(RYR2):c.7222-12T>C http://identifiers.org/clinvar/257217 ^@ NM_001035.2(RYR2):c.7342+16A>G http://identifiers.org/clinvar/257218 ^@ NM_001035.2(RYR2):c.8209-29A>C http://identifiers.org/clinvar/257197 ^@ NM_001035.2(RYR2):c.11092-25T>C http://identifiers.org/clinvar/257198 ^@ NM_001035.2(RYR2):c.11326-23C>T http://identifiers.org/clinvar/257199 ^@ NM_001035.2(RYR2):c.11776-21G>A http://identifiers.org/clinvar/257200 ^@ NM_001035.2(RYR2):c.13476+47G>A http://identifiers.org/clinvar/257201 ^@ NM_001035.2(RYR2):c.13783-21G>A http://identifiers.org/clinvar/257202 ^@ NM_001035.2(RYR2):c.13957-32dupA http://identifiers.org/clinvar/257203 ^@ NM_001035.2(RYR2):c.14091-25G>A http://identifiers.org/clinvar/255488 ^@ NM_000191.2(HMGCL):c.252+34T>C http://identifiers.org/clinvar/262787 ^@ NM_153818.1(PEX10):c.*11G>A http://identifiers.org/clinvar/262791 ^@ NM_153818.1(PEX10):c.973-4G>A http://identifiers.org/clinvar/262790 ^@ NM_153818.1(PEX10):c.903G>A (p.Arg301=) http://identifiers.org/clinvar/262789 ^@ NM_153818.1(PEX10):c.318G>A (p.Leu106=) http://identifiers.org/clinvar/262788 ^@ NM_153818.1(PEX10):c.194-5C>T http://identifiers.org/clinvar/260005 ^@ NM_006642.3(SDCCAG8):c.-47T>A http://identifiers.org/clinvar/260011 ^@ NM_006642.3(SDCCAG8):c.279G>A (p.Pro93=) http://identifiers.org/clinvar/260012 ^@ NM_006642.3(SDCCAG8):c.547-4T>G http://identifiers.org/clinvar/260013 ^@ NM_006642.3(SDCCAG8):c.912C>T (p.Thr304=) http://identifiers.org/clinvar/260014 ^@ NM_006642.3(SDCCAG8):c.930-21A>G http://identifiers.org/clinvar/260015 ^@ NM_006642.3(SDCCAG8):c.964G>A (p.Val322Ile) http://identifiers.org/clinvar/260006 ^@ NM_006642.3(SDCCAG8):c.1134A>T (p.Glu378Asp) http://identifiers.org/clinvar/260007 ^@ NM_006642.3(SDCCAG8):c.1467A>G (p.Lys489=) http://identifiers.org/clinvar/260008 ^@ NM_006642.3(SDCCAG8):c.1473+48dupA http://identifiers.org/clinvar/260009 ^@ NM_006642.3(SDCCAG8):c.1725G>A (p.Glu575=) http://identifiers.org/clinvar/260010 ^@ NM_006642.3(SDCCAG8):c.1744+20T>G http://identifiers.org/clinvar/259562 ^@ NM_004895.4(NLRP3):c.663C>T (p.Thr221=) http://identifiers.org/clinvar/259560 ^@ NM_004895.4(NLRP3):c.1308C>T (p.Ser436=) http://identifiers.org/clinvar/259561 ^@ NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys) http://identifiers.org/clinvar/261269 ^@ NM_020451.2(SELENON):c.-42T>C http://identifiers.org/clinvar/261268 ^@ NM_020451.2(SELENON):c.-35T>C http://identifiers.org/clinvar/261288 ^@ NM_020451.2(SELENON):c.81C>T (p.Arg27=) http://identifiers.org/clinvar/261281 ^@ NM_020451.2(SELENON):c.403+47T>A http://identifiers.org/clinvar/261282 ^@ NM_020451.2(SELENON):c.404-23dupT http://identifiers.org/clinvar/261283 ^@ NM_020451.2(SELENON):c.465G>A (p.Thr155=) http://identifiers.org/clinvar/261284 ^@ NM_020451.2(SELENON):c.729G>A (p.Pro243=) http://identifiers.org/clinvar/261285 ^@ NM_020451.2(SELENON):c.732G>A (p.Pro244=) http://identifiers.org/clinvar/261286 ^@ NM_020451.2(SELENON):c.747+39C>T http://identifiers.org/clinvar/261287 ^@ NM_020451.2(SELENON):c.748-40G>A http://identifiers.org/clinvar/261271 ^@ NM_020451.2(SELENON):c.1093-46C>A http://identifiers.org/clinvar/261270 ^@ NM_020451.2(SELENON):c.1093-45T>C http://identifiers.org/clinvar/261272 ^@ NM_020451.2(SELENON):c.1281+15G>T http://identifiers.org/clinvar/261273 ^@ NM_020451.2(SELENON):c.1281+42G>A http://identifiers.org/clinvar/261274 ^@ NM_020451.2(SELENON):c.1282-41C>T http://identifiers.org/clinvar/261275 ^@ NM_020451.2(SELENON):c.1387+11C>T http://identifiers.org/clinvar/261276 ^@ NM_020451.2(SELENON):c.1501-31C>T http://identifiers.org/clinvar/261277 ^@ NM_020451.2(SELENON):c.1602+14C>T http://identifiers.org/clinvar/261278 ^@ NM_020451.2(SELENON):c.1645G>A (p.Val549Met) http://identifiers.org/clinvar/261279 ^@ NM_020451.2(SELENON):c.1710G>A (p.Thr570=) http://identifiers.org/clinvar/261280 ^@ NM_020451.2(SELENON):c.1745G>A (p.Arg582Gln) http://identifiers.org/clinvar/261267 ^@ NM_020451.2(SELENON):c.*44G>T http://identifiers.org/clinvar/262792 ^@ NM_156039.3(CSF3R):c.2047G>A (p.Gly683Arg) http://identifiers.org/clinvar/256793 ^@ NM_000760.3(CSF3R):c.1684T>C (p.Tyr562His) http://identifiers.org/clinvar/256792 ^@ NM_000760.3(CSF3R):c.1528G>C (p.Asp510His) http://identifiers.org/clinvar/256791 ^@ NM_000760.3(CSF3R):c.1410G>A (p.Ala470=) http://identifiers.org/clinvar/256790 ^@ NM_000760.3(CSF3R):c.1260T>C (p.Thr420=) http://identifiers.org/clinvar/256789 ^@ NM_000760.3(CSF3R):c.1254T>C (p.Arg418=) http://identifiers.org/clinvar/256787 ^@ NM_000760.3(CSF3R):c.1037A>G (p.Gln346Arg) http://identifiers.org/clinvar/256796 ^@ NM_000760.3(CSF3R):c.958G>A (p.Asp320Asn) http://identifiers.org/clinvar/256795 ^@ NM_000760.3(CSF3R):c.726C>T (p.Ala242=) http://identifiers.org/clinvar/256794 ^@ NM_000760.3(CSF3R):c.692T>C (p.Met231Thr) http://identifiers.org/clinvar/256788 ^@ NM_000760.3(CSF3R):c.105C>A (p.Ile35=) http://identifiers.org/clinvar/258383 ^@ NM_001852.3(COL9A2):c.2001C>T (p.Ala667=) http://identifiers.org/clinvar/258382 ^@ NM_001852.3(COL9A2):c.1981C>A (p.Pro661Thr) http://identifiers.org/clinvar/258381 ^@ NM_001852.3(COL9A2):c.1902C>T (p.Asn634=) http://identifiers.org/clinvar/258380 ^@ NM_001852.3(COL9A2):c.1871-8G>T http://identifiers.org/clinvar/258379 ^@ NM_001852.3(COL9A2):c.1866C>T (p.Ile622=) http://identifiers.org/clinvar/258378 ^@ NM_001852.3(COL9A2):c.1793-17T>C http://identifiers.org/clinvar/258377 ^@ NM_001852.3(COL9A2):c.1792+17G>A http://identifiers.org/clinvar/258376 ^@ NM_001852.3(COL9A2):c.1548+28C>A http://identifiers.org/clinvar/258375 ^@ NM_001852.3(COL9A2):c.1548+17G>C http://identifiers.org/clinvar/258374 ^@ NM_001852.3(COL9A2):c.1368+16A>G http://identifiers.org/clinvar/258373 ^@ NM_001852.3(COL9A2):c.1368+12G>A http://identifiers.org/clinvar/258372 ^@ NM_001852.3(COL9A2):c.1368+10C>T http://identifiers.org/clinvar/258371 ^@ NM_001852.3(COL9A2):c.1323+18T>G http://identifiers.org/clinvar/258370 ^@ NM_001852.3(COL9A2):c.1288-12C>T http://identifiers.org/clinvar/258369 ^@ NM_001852.3(COL9A2):c.1188G>A (p.Val396=) http://identifiers.org/clinvar/258368 ^@ NM_001852.3(COL9A2):c.1161+41C>T http://identifiers.org/clinvar/258367 ^@ NM_001852.3(COL9A2):c.1161+10T>A http://identifiers.org/clinvar/258366 ^@ NM_001852.3(COL9A2):c.1150A>C (p.Met384Leu) http://identifiers.org/clinvar/258365 ^@ NM_001852.3(COL9A2):c.1062G>A (p.Pro354=) http://identifiers.org/clinvar/258364 ^@ NM_001852.3(COL9A2):c.1003C>G (p.Leu335Val) http://identifiers.org/clinvar/258400 ^@ NM_001852.3(COL9A2):c.982G>A (p.Gly328Arg) http://identifiers.org/clinvar/258399 ^@ NM_001852.3(COL9A2):c.977A>G (p.Gln326Arg) http://identifiers.org/clinvar/258398 ^@ NM_001852.3(COL9A2):c.976C>T (p.Gln326Ter) http://identifiers.org/clinvar/258397 ^@ NM_001852.3(COL9A2):c.955-4C>G http://identifiers.org/clinvar/258396 ^@ NM_001852.3(COL9A2):c.792+24C>T http://identifiers.org/clinvar/258395 ^@ NM_001852.3(COL9A2):c.792+16C>T http://identifiers.org/clinvar/258394 ^@ NM_001852.3(COL9A2):c.738+10T>C http://identifiers.org/clinvar/258393 ^@ NM_001852.3(COL9A2):c.737C>T (p.Thr246Met) http://identifiers.org/clinvar/258392 ^@ NM_001852.3(COL9A2):c.630+13G>T http://identifiers.org/clinvar/258391 ^@ NM_001852.3(COL9A2):c.544A>G (p.Met182Val) http://identifiers.org/clinvar/258390 ^@ NM_001852.3(COL9A2):c.519+39delG http://identifiers.org/clinvar/258389 ^@ NM_001852.3(COL9A2):c.364-8C>T http://identifiers.org/clinvar/258387 ^@ NM_001852.3(COL9A2):c.364-16A>C http://identifiers.org/clinvar/258388 ^@ NM_001852.3(COL9A2):c.364-20A>G http://identifiers.org/clinvar/258386 ^@ NM_001852.3(COL9A2):c.304-14C>T http://identifiers.org/clinvar/258385 ^@ NM_001852.3(COL9A2):c.303+26G>A http://identifiers.org/clinvar/258384 ^@ NM_001852.3(COL9A2):c.249+36C>A http://identifiers.org/clinvar/259521 ^@ NM_004700.3(KCNQ4):c.315-18C>T http://identifiers.org/clinvar/259520 ^@ NM_004700.3(KCNQ4):c.315-18_315-16delinsTTT http://identifiers.org/clinvar/259519 ^@ NM_004700.3(KCNQ4):c.315-16C>T http://identifiers.org/clinvar/259518 ^@ NM_004700.3(KCNQ4):c.1116C>A (p.Ile372=) http://identifiers.org/clinvar/259759 ^@ NM_005373.2(MPL):c.391+47C>T http://identifiers.org/clinvar/259760 ^@ NM_005373.2(MPL):c.981-41G>A http://identifiers.org/clinvar/259755 ^@ NM_005373.2(MPL):c.1309-10C>T http://identifiers.org/clinvar/259756 ^@ NM_005373.2(MPL):c.1468+37G>A http://identifiers.org/clinvar/259757 ^@ NM_005373.2(MPL):c.1653+3G>A http://identifiers.org/clinvar/259758 ^@ NM_005373.2(MPL):c.1794C>T (p.Cys598=) http://identifiers.org/clinvar/260613 ^@ NM_015284.3(SZT2):c.1336C>T (p.Pro446Ser) http://identifiers.org/clinvar/260614 ^@ NM_015284.3(SZT2):c.2550+5G>T http://identifiers.org/clinvar/260615 ^@ NM_015284.3(SZT2):c.2929+9G>A http://identifiers.org/clinvar/260616 ^@ NM_015284.3(SZT2):c.5027G>A (p.Arg1676His) http://identifiers.org/clinvar/260617 ^@ NM_015284.3(SZT2):c.5214T>G (p.Ser1738=) http://identifiers.org/clinvar/260618 ^@ NM_015284.3(SZT2):c.5364T>G (p.Ser1788Arg) http://identifiers.org/clinvar/260619 ^@ NM_015284.3(SZT2):c.5863+11A>C http://identifiers.org/clinvar/260620 ^@ NM_015284.3(SZT2):c.6337+16G>T http://identifiers.org/clinvar/260621 ^@ NM_015284.3(SZT2):c.6372A>G (p.Leu2124=) http://identifiers.org/clinvar/260622 ^@ NM_015284.3(SZT2):c.7040-13C>G http://identifiers.org/clinvar/260623 ^@ NM_015284.3(SZT2):c.7185A>G (p.Glu2395=) http://identifiers.org/clinvar/260624 ^@ NM_015284.3(SZT2):c.7224T>C (p.Ile2408=) http://identifiers.org/clinvar/260625 ^@ NM_015284.3(SZT2):c.8328+8A>C http://identifiers.org/clinvar/260626 ^@ NM_015284.3(SZT2):c.8455-3T>C http://identifiers.org/clinvar/260627 ^@ NM_015284.3(SZT2):c.9189T>C (p.Ser3063=) http://identifiers.org/clinvar/260628 ^@ NM_015284.3(SZT2):c.9270-12C>T http://identifiers.org/clinvar/262909 ^@ NM_174963.3(ST3GAL3):c.1245+15A>G http://identifiers.org/clinvar/262910 ^@ NM_174963.3(ST3GAL3):c.1246-18C>T http://identifiers.org/clinvar/261220 ^@ NM_020365.4(EIF2B3):c.1203-39G>A http://identifiers.org/clinvar/261223 ^@ NM_020365.4(EIF2B3):c.975+44A>T http://identifiers.org/clinvar/261224 ^@ NM_020365.4(EIF2B3):c.975+9A>G http://identifiers.org/clinvar/261222 ^@ NM_020365.4(EIF2B3):c.656+35A>G http://identifiers.org/clinvar/261221 ^@ NM_020365.4(EIF2B3):c.633C>T (p.Ile211=) http://identifiers.org/clinvar/255961 ^@ NM_000374.4(UROD):c.603A>G (p.Pro201=) http://identifiers.org/clinvar/255960 ^@ NM_000374.4(UROD):c.*3G>A http://identifiers.org/clinvar/257527 ^@ NM_001128425.1(MUTYH):c.1404C>G (p.Thr468=) http://identifiers.org/clinvar/257529 ^@ NM_001128425.1(MUTYH):c.504+35A>G http://identifiers.org/clinvar/257528 ^@ NM_001128425.1(MUTYH):c.157+30A>G http://identifiers.org/clinvar/260665 ^@ NM_015506.2(MMACHC):c.811A>G (p.Ser271Gly) http://identifiers.org/clinvar/257665 ^@ NM_001243766.1(POMGNT1):c.1869+56A>G http://identifiers.org/clinvar/260872 ^@ NM_017739.3(POMGNT1):c.1785+46C>T http://identifiers.org/clinvar/260871 ^@ NM_017739.3(POMGNT1):c.1785+31C>A http://identifiers.org/clinvar/260870 ^@ NM_017739.3(POMGNT1):c.1111-23C>T http://identifiers.org/clinvar/260869 ^@ NM_017739.3(POMGNT1):c.1027-44A>G http://identifiers.org/clinvar/260876 ^@ NM_017739.3(POMGNT1):c.880-39G>C http://identifiers.org/clinvar/260875 ^@ NM_017739.3(POMGNT1):c.534+40C>A http://identifiers.org/clinvar/260874 ^@ NM_017739.3(POMGNT1):c.355-27C>T http://identifiers.org/clinvar/260873 ^@ NM_017739.3(POMGNT1):c.235+33T>G http://identifiers.org/clinvar/257664 ^@ NM_001243766.1(POMGNT1):c.120+13C>T http://identifiers.org/clinvar/257325 ^@ NM_001048166.1(STIL):c.2259C>G (p.Ser753=) http://identifiers.org/clinvar/260210 ^@ NM_012186.2(FOXE3):c.-14G>A http://identifiers.org/clinvar/260211 ^@ NM_012186.2(FOXE3):c.423G>A (p.Lys141=) http://identifiers.org/clinvar/259242 ^@ NM_004153.3(ORC1):c.57G>C (p.Arg19Ser) http://identifiers.org/clinvar/262299 ^@ NM_057176.2(BSND):c.272+20G>A http://identifiers.org/clinvar/262902 ^@ NM_174936.3(PCSK9):c.141C>T (p.Ser47=) http://identifiers.org/clinvar/262904 ^@ NM_174936.3(PCSK9):c.207+15A>G http://identifiers.org/clinvar/262905 ^@ NM_174936.3(PCSK9):c.486C>G (p.Thr162=) http://identifiers.org/clinvar/262906 ^@ NM_174936.3(PCSK9):c.657+9G>A http://identifiers.org/clinvar/262907 ^@ NM_174936.3(PCSK9):c.753C>T (p.Arg251=) http://identifiers.org/clinvar/262908 ^@ NM_174936.3(PCSK9):c.799+3A>G http://identifiers.org/clinvar/262899 ^@ NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) http://identifiers.org/clinvar/262900 ^@ NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) http://identifiers.org/clinvar/262901 ^@ NM_174936.3(PCSK9):c.1356T>G (p.Gly452=) http://identifiers.org/clinvar/262903 ^@ NM_174936.3(PCSK9):c.1681+17G>A http://identifiers.org/clinvar/260560 ^@ NM_015102.4(NPHP4):c.4141-11C>T http://identifiers.org/clinvar/260559 ^@ NM_015102.4(NPHP4):c.3645-38C>T http://identifiers.org/clinvar/260558 ^@ NM_015102.4(NPHP4):c.3559-19delC http://identifiers.org/clinvar/260557 ^@ NM_015102.4(NPHP4):c.3473-16A>G http://identifiers.org/clinvar/260556 ^@ NM_015102.4(NPHP4):c.3472+6T>C http://identifiers.org/clinvar/260555 ^@ NM_015102.4(NPHP4):c.3315+32G>A http://identifiers.org/clinvar/260554 ^@ NM_015102.4(NPHP4):c.3231+41T>C http://identifiers.org/clinvar/260553 ^@ NM_015102.4(NPHP4):c.3231+31A>G http://identifiers.org/clinvar/260552 ^@ NM_015102.4(NPHP4):c.3081G>A (p.Lys1027=) http://identifiers.org/clinvar/260551 ^@ NM_015102.4(NPHP4):c.2820G>A (p.Ala940=) http://identifiers.org/clinvar/260550 ^@ NM_015102.4(NPHP4):c.2812G>A (p.Val938Met) http://identifiers.org/clinvar/260547 ^@ NM_015102.4(NPHP4):c.2612-33G>A http://identifiers.org/clinvar/260546 ^@ NM_015102.4(NPHP4):c.2485+38C>T http://identifiers.org/clinvar/260545 ^@ NM_015102.4(NPHP4):c.1631C>G (p.Ala544Gly) http://identifiers.org/clinvar/260544 ^@ NM_015102.4(NPHP4):c.1500A>G (p.Pro500=) http://identifiers.org/clinvar/260543 ^@ NM_015102.4(NPHP4):c.1470C>T (p.Leu490=) http://identifiers.org/clinvar/260549 ^@ NM_015102.4(NPHP4):c.280-6C>G http://identifiers.org/clinvar/260548 ^@ NM_015102.4(NPHP4):c.279+11G>A http://identifiers.org/clinvar/260561 ^@ NM_015102.4(NPHP4):c.86C>T (p.Thr29Met) http://identifiers.org/clinvar/255839 ^@ NM_000329.2(RPE65):c.644-33C>G http://identifiers.org/clinvar/255838 ^@ NM_000329.2(RPE65):c.643+22C>T http://identifiers.org/clinvar/254691 ^@ NM_000016.5(ACADM):c.31-32C>G http://identifiers.org/clinvar/254689 ^@ NM_000016.5(ACADM):c.387+32C>G http://identifiers.org/clinvar/254690 ^@ NM_000016.5(ACADM):c.469-22C>A http://identifiers.org/clinvar/257514 ^@ NM_001127328.2(ACADM):c.489T>G (p.Cys163Trp) http://identifiers.org/clinvar/259701 ^@ NM_005263.3(GFI1):c.1242C>T (p.His414=) http://identifiers.org/clinvar/259698 ^@ NM_005263.3(GFI1):c.1047C>T (p.Phe349=) http://identifiers.org/clinvar/259706 ^@ NM_005263.3(GFI1):c.786+11C>A http://identifiers.org/clinvar/259705 ^@ NM_005263.3(GFI1):c.718G>C (p.Glu240Gln) http://identifiers.org/clinvar/259704 ^@ NM_005263.3(GFI1):c.648A>G (p.Ala216=) http://identifiers.org/clinvar/259703 ^@ NM_005263.3(GFI1):c.319C>G (p.Pro107Ala) http://identifiers.org/clinvar/259702 ^@ NM_005263.3(GFI1):c.168C>T (p.Ser56=) http://identifiers.org/clinvar/259700 ^@ NM_005263.3(GFI1):c.115+10_115+29del20 http://identifiers.org/clinvar/259699 ^@ NM_005263.3(GFI1):c.107G>A (p.Ser36Asn) http://identifiers.org/clinvar/259697 ^@ NM_005263.3(GFI1):c.-7G>A http://identifiers.org/clinvar/255927 ^@ NM_000350.2(ABCA4):c.6816+28G>C http://identifiers.org/clinvar/255926 ^@ NM_000350.2(ABCA4):c.6730-19G>A http://identifiers.org/clinvar/255925 ^@ NM_000350.2(ABCA4):c.5836-43C>A http://identifiers.org/clinvar/255923 ^@ NM_000350.2(ABCA4):c.4774-17_4774-16delGT http://identifiers.org/clinvar/255924 ^@ NM_000350.2(ABCA4):c.4774-27T>C http://identifiers.org/clinvar/255922 ^@ NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) http://identifiers.org/clinvar/255921 ^@ NM_000350.2(ABCA4):c.3582C>A (p.Asp1194Glu) http://identifiers.org/clinvar/255920 ^@ NM_000350.2(ABCA4):c.3213G>A (p.Ser1071=) http://identifiers.org/clinvar/255919 ^@ NM_000350.2(ABCA4):c.3210G>A (p.Leu1070=) http://identifiers.org/clinvar/255918 ^@ NM_000350.2(ABCA4):c.2654-36C>T http://identifiers.org/clinvar/255917 ^@ NM_000350.2(ABCA4):c.2160+49T>C http://identifiers.org/clinvar/255916 ^@ NM_000350.2(ABCA4):c.1937+15C>T http://identifiers.org/clinvar/258821 ^@ NM_002858.3(ABCD3):c.162G>A (p.Lys54=) http://identifiers.org/clinvar/258822 ^@ NM_002858.3(ABCD3):c.1929C>G (p.Gly643=) http://identifiers.org/clinvar/256750 ^@ NM_000642.2(AGL):c.83-33C>T http://identifiers.org/clinvar/256718 ^@ NM_000642.2(AGL):c.112A>G (p.Thr38Ala) http://identifiers.org/clinvar/256726 ^@ NM_000642.2(AGL):c.207T>C (p.Asn69=) http://identifiers.org/clinvar/256749 ^@ NM_000642.2(AGL):c.686A>G (p.Gln229Arg) http://identifiers.org/clinvar/256751 ^@ NM_000642.2(AGL):c.959-18G>A http://identifiers.org/clinvar/256752 ^@ NM_000642.2(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG (p.Arg322Serfs) http://identifiers.org/clinvar/256719 ^@ NM_000642.2(AGL):c.1155G>T (p.Lys385Asn) http://identifiers.org/clinvar/256720 ^@ NM_000642.2(AGL):c.1185+15T>C http://identifiers.org/clinvar/256721 ^@ NM_000642.2(AGL):c.1319C>T (p.Ser440Phe) http://identifiers.org/clinvar/256722 ^@ NM_000642.2(AGL):c.1424-44A>G http://identifiers.org/clinvar/256723 ^@ NM_000642.2(AGL):c.1481G>A (p.Arg494His) http://identifiers.org/clinvar/256724 ^@ NM_000642.2(AGL):c.1612-24C>A http://identifiers.org/clinvar/256725 ^@ NM_000642.2(AGL):c.2001+8T>C http://identifiers.org/clinvar/256727 ^@ NM_000642.2(AGL):c.2522C>T (p.Ser841Phe) http://identifiers.org/clinvar/256728 ^@ NM_000642.2(AGL):c.2546+10T>C http://identifiers.org/clinvar/256729 ^@ NM_000642.2(AGL):c.2802A>C (p.Ala934=) http://identifiers.org/clinvar/256730 ^@ NM_000642.2(AGL):c.2812+11G>A http://identifiers.org/clinvar/256731 ^@ NM_000642.2(AGL):c.2883A>G (p.Arg961=) http://identifiers.org/clinvar/256732 ^@ NM_000642.2(AGL):c.2885C>G (p.Ser962Cys) http://identifiers.org/clinvar/256733 ^@ NM_000642.2(AGL):c.2950-21T>A http://identifiers.org/clinvar/256734 ^@ NM_000642.2(AGL):c.3199C>T (p.Pro1067Ser) http://identifiers.org/clinvar/256735 ^@ NM_000642.2(AGL):c.3259+37G>A http://identifiers.org/clinvar/256737 ^@ NM_000642.2(AGL):c.3260-20T>C http://identifiers.org/clinvar/256736 ^@ NM_000642.2(AGL):c.3260-19G>A http://identifiers.org/clinvar/256738 ^@ NM_000642.2(AGL):c.3343G>A (p.Gly1115Arg) http://identifiers.org/clinvar/256739 ^@ NM_000642.2(AGL):c.3384G>A (p.Ala1128=) http://identifiers.org/clinvar/256740 ^@ NM_000642.2(AGL):c.3588+36T>G http://identifiers.org/clinvar/256741 ^@ NM_000642.2(AGL):c.3619G>A (p.Ala1207Thr) http://identifiers.org/clinvar/256742 ^@ NM_000642.2(AGL):c.3700+32T>C http://identifiers.org/clinvar/256743 ^@ NM_000642.2(AGL):c.3758G>A (p.Arg1253His) http://identifiers.org/clinvar/256744 ^@ NM_000642.2(AGL):c.3836+45G>A http://identifiers.org/clinvar/256745 ^@ NM_000642.2(AGL):c.3849T>C (p.Ala1283=) http://identifiers.org/clinvar/256746 ^@ NM_000642.2(AGL):c.4161+11C>G http://identifiers.org/clinvar/256747 ^@ NM_000642.2(AGL):c.4162-12G>C http://identifiers.org/clinvar/256748 ^@ NM_000642.2(AGL):c.4290T>C (p.Asn1430=) http://identifiers.org/clinvar/259093 ^@ NM_003597.4(KLF11):c.-9G>A http://identifiers.org/clinvar/261428 ^@ NM_021815.4(SLC5A7):c.265A>G (p.Ile89Val) http://identifiers.org/clinvar/261429 ^@ NM_021815.4(SLC5A7):c.741+18C>T http://identifiers.org/clinvar/261570 ^@ NM_022336.3(EDAR):c.*16G>C http://identifiers.org/clinvar/261571 ^@ NM_022336.3(EDAR):c.1138A>C (p.Ser380Arg) http://identifiers.org/clinvar/261574 ^@ NM_022336.3(EDAR):c.870C>T (p.Pro290=) http://identifiers.org/clinvar/261573 ^@ NM_022336.3(EDAR):c.822C>A (p.Ser274=) http://identifiers.org/clinvar/261572 ^@ NM_022336.3(EDAR):c.319A>G (p.Met107Val) http://identifiers.org/clinvar/255708 ^@ NM_000272.3(NPHP1):c.1697+19C>T http://identifiers.org/clinvar/255707 ^@ NM_000272.3(NPHP1):c.1521-47T>C http://identifiers.org/clinvar/255706 ^@ NM_000272.3(NPHP1):c.1437+9G>A http://identifiers.org/clinvar/255705 ^@ NM_000272.3(NPHP1):c.1028-47G>A http://identifiers.org/clinvar/255704 ^@ NM_000272.3(NPHP1):c.1027+34A>C http://identifiers.org/clinvar/255709 ^@ NM_000272.3(NPHP1):c.829C>A (p.Arg277=) http://identifiers.org/clinvar/259051 ^@ NM_003466.3(PAX8):c.898+11C>T http://identifiers.org/clinvar/259050 ^@ NM_003466.3(PAX8):c.478+16C>T http://identifiers.org/clinvar/262589 ^@ NM_145693.3(LPIN1):c.193-47C>T http://identifiers.org/clinvar/262588 ^@ NM_145693.3(LPIN1):c.193-43G>T http://identifiers.org/clinvar/262593 ^@ NM_145693.3(LPIN1):c.289-35C>T http://identifiers.org/clinvar/262594 ^@ NM_145693.3(LPIN1):c.420C>T (p.Ile140=) http://identifiers.org/clinvar/262595 ^@ NM_145693.3(LPIN1):c.657G>A (p.Leu219=) http://identifiers.org/clinvar/262596 ^@ NM_145693.3(LPIN1):c.696G>C (p.Ser232=) http://identifiers.org/clinvar/262597 ^@ NM_145693.3(LPIN1):c.856_858delTCT (p.Ser286del) http://identifiers.org/clinvar/262581 ^@ NM_145693.3(LPIN1):c.1156+34G>C http://identifiers.org/clinvar/262582 ^@ NM_145693.3(LPIN1):c.1445C>T (p.Ala482Val) http://identifiers.org/clinvar/262583 ^@ NM_145693.3(LPIN1):c.1480G>A (p.Val494Met) http://identifiers.org/clinvar/262584 ^@ NM_145693.3(LPIN1):c.1536-36C>T http://identifiers.org/clinvar/262585 ^@ NM_145693.3(LPIN1):c.1621A>G (p.Ile541Val) http://identifiers.org/clinvar/262586 ^@ NM_145693.3(LPIN1):c.1698+41G>T http://identifiers.org/clinvar/262587 ^@ NM_145693.3(LPIN1):c.1828C>T (p.Pro610Ser) http://identifiers.org/clinvar/262590 ^@ NM_145693.3(LPIN1):c.2054+39T>C http://identifiers.org/clinvar/262591 ^@ NM_145693.3(LPIN1):c.2250G>C (p.Gly750=) http://identifiers.org/clinvar/262592 ^@ NM_145693.3(LPIN1):c.2487G>A (p.Gln829=) http://identifiers.org/clinvar/259708 ^@ NM_005270.4(GLI2):c.-7G>A http://identifiers.org/clinvar/259713 ^@ NM_005270.4(GLI2):c.148+14C>T http://identifiers.org/clinvar/259726 ^@ NM_005270.4(GLI2):c.254+32C>T http://identifiers.org/clinvar/259731 ^@ NM_005270.4(GLI2):c.643+16C>G http://identifiers.org/clinvar/259732 ^@ NM_005270.4(GLI2):c.643+24G>A http://identifiers.org/clinvar/259733 ^@ NM_005270.4(GLI2):c.643+35T>C http://identifiers.org/clinvar/259734 ^@ NM_005270.4(GLI2):c.644-28G>C http://identifiers.org/clinvar/259735 ^@ NM_005270.4(GLI2):c.720C>T (p.Asp240=) http://identifiers.org/clinvar/259736 ^@ NM_005270.4(GLI2):c.801G>A (p.Ser267=) http://identifiers.org/clinvar/259737 ^@ NM_005270.4(GLI2):c.803C>T (p.Ala268Val) http://identifiers.org/clinvar/259738 ^@ NM_005270.4(GLI2):c.963C>G (p.Pro321=) http://identifiers.org/clinvar/259709 ^@ NM_005270.4(GLI2):c.1060-27C>T http://identifiers.org/clinvar/259710 ^@ NM_005270.4(GLI2):c.1182+47T>C http://identifiers.org/clinvar/259711 ^@ NM_005270.4(GLI2):c.1368+25C>T http://identifiers.org/clinvar/259712 ^@ NM_005270.4(GLI2):c.1368+40G>A http://identifiers.org/clinvar/259714 ^@ NM_005270.4(GLI2):c.1683+11G>A http://identifiers.org/clinvar/259715 ^@ NM_005270.4(GLI2):c.1683+36G>A http://identifiers.org/clinvar/259716 ^@ NM_005270.4(GLI2):c.1683+37G>A http://identifiers.org/clinvar/259717 ^@ NM_005270.4(GLI2):c.1683+49C>T http://identifiers.org/clinvar/259718 ^@ NM_005270.4(GLI2):c.1684-17C>T http://identifiers.org/clinvar/259719 ^@ NM_005270.4(GLI2):c.1761G>A (p.Thr587=) http://identifiers.org/clinvar/259720 ^@ NM_005270.4(GLI2):c.1869C>A (p.Gly623=) http://identifiers.org/clinvar/259721 ^@ NM_005270.4(GLI2):c.1944C>T (p.Thr648=) http://identifiers.org/clinvar/259722 ^@ NM_005270.4(GLI2):c.2088A>G (p.Ala696=) http://identifiers.org/clinvar/259723 ^@ NM_005270.4(GLI2):c.2159G>A (p.Arg720His) http://identifiers.org/clinvar/259724 ^@ NM_005270.4(GLI2):c.2262G>T (p.Arg754=) http://identifiers.org/clinvar/259725 ^@ NM_005270.4(GLI2):c.2293+35A>G http://identifiers.org/clinvar/259727 ^@ NM_005270.4(GLI2):c.3551C>A (p.Pro1184Gln) http://identifiers.org/clinvar/259728 ^@ NM_005270.4(GLI2):c.3882G>A (p.Thr1294=) http://identifiers.org/clinvar/259729 ^@ NM_005270.4(GLI2):c.4557C>T (p.Gly1519=) http://identifiers.org/clinvar/259730 ^@ NM_005270.4(GLI2):c.4581T>C (p.Gly1527=) http://identifiers.org/clinvar/262475 ^@ NM_139343.2(BIN1):c.1587C>T (p.His529=) http://identifiers.org/clinvar/262474 ^@ NM_139343.2(BIN1):c.1573-18G>C http://identifiers.org/clinvar/262473 ^@ NM_139343.2(BIN1):c.1292C>T (p.Pro431Leu) http://identifiers.org/clinvar/262472 ^@ NM_139343.2(BIN1):c.1264-8G>A http://identifiers.org/clinvar/262471 ^@ NM_139343.2(BIN1):c.1131+18C>T http://identifiers.org/clinvar/262470 ^@ NM_139343.2(BIN1):c.1003-15G>A http://identifiers.org/clinvar/262480 ^@ NM_139343.2(BIN1):c.906C>T (p.Gly302=) http://identifiers.org/clinvar/262479 ^@ NM_139343.2(BIN1):c.699-13C>T http://identifiers.org/clinvar/262478 ^@ NM_139343.2(BIN1):c.630C>T (p.Ile210=) http://identifiers.org/clinvar/262477 ^@ NM_139343.2(BIN1):c.402C>T (p.Pro134=) http://identifiers.org/clinvar/262476 ^@ NM_139343.2(BIN1):c.316-19G>A http://identifiers.org/clinvar/262469 ^@ NM_139343.2(BIN1):c.-27C>T http://identifiers.org/clinvar/255808 ^@ NM_000312.3(PROC):c.-50A>T http://identifiers.org/clinvar/255809 ^@ NM_000312.3(PROC):c.423G>T (p.Ser141=) http://identifiers.org/clinvar/255810 ^@ NM_000312.3(PROC):c.768T>C (p.Asp256=) http://identifiers.org/clinvar/260989 ^@ NM_017980.4(LIMS2):c.875-8C>G http://identifiers.org/clinvar/260988 ^@ NM_017980.4(LIMS2):c.581+9G>A http://identifiers.org/clinvar/260987 ^@ NM_017980.4(LIMS2):c.471G>A (p.Lys157=) http://identifiers.org/clinvar/260986 ^@ NM_017980.4(LIMS2):c.457C>T (p.Arg153Cys) http://identifiers.org/clinvar/260985 ^@ NM_017980.4(LIMS2):c.431+14G>A http://identifiers.org/clinvar/260984 ^@ NM_017980.4(LIMS2):c.261C>T (p.Tyr87=) http://identifiers.org/clinvar/260983 ^@ NM_017980.4(LIMS2):c.108C>T (p.Asn36=) http://identifiers.org/clinvar/259052 ^@ NM_003467.2(CXCR4):c.414C>T (p.Ile138=) http://identifiers.org/clinvar/256607 ^@ NM_000547.5(TPO):c.12C>G (p.Leu4=) http://identifiers.org/clinvar/256615 ^@ NM_000547.5(TPO):c.660C>T (p.Val220=) http://identifiers.org/clinvar/256616 ^@ NM_000547.5(TPO):c.769G>T (p.Ala257Ser) http://identifiers.org/clinvar/256605 ^@ NM_000547.5(TPO):c.1117G>T (p.Ala373Ser) http://identifiers.org/clinvar/256606 ^@ NM_000547.5(TPO):c.1193G>C (p.Ser398Thr) http://identifiers.org/clinvar/261023 ^@ NM_018328.4(MBD5):c.675G>A (p.Ala225=) http://identifiers.org/clinvar/256608 ^@ NM_000547.5(TPO):c.1998C>T (p.Asp666=) http://identifiers.org/clinvar/256609 ^@ NM_000547.5(TPO):c.2006+20G>A http://identifiers.org/clinvar/260678 ^@ NM_015702.2(MMADHC):c.479-22G>C http://identifiers.org/clinvar/256610 ^@ NM_000547.5(TPO):c.2145C>T (p.Pro715=) http://identifiers.org/clinvar/256611 ^@ NM_000547.5(TPO):c.2173A>C (p.Thr725Pro) http://identifiers.org/clinvar/256612 ^@ NM_000547.5(TPO):c.2242G>A (p.Val748Met) http://identifiers.org/clinvar/256613 ^@ NM_000547.5(TPO):c.2387-17C>T http://identifiers.org/clinvar/257805 ^@ NM_001271208.1(NEB):c.25510-17dupT http://identifiers.org/clinvar/257806 ^@ NM_001271208.1(NEB):c.25510-34T>C http://identifiers.org/clinvar/257804 ^@ NM_001271208.1(NEB):c.24979-47A>T http://identifiers.org/clinvar/257803 ^@ NM_001271208.1(NEB):c.24778-20T>C http://identifiers.org/clinvar/257802 ^@ NM_001271208.1(NEB):c.24213T>C (p.Phe8071=) http://identifiers.org/clinvar/257801 ^@ NM_001271208.1(NEB):c.24163A>G (p.Ile8055Val) http://identifiers.org/clinvar/257800 ^@ NM_001271208.1(NEB):c.24034-45A>G http://identifiers.org/clinvar/257799 ^@ NM_001271208.1(NEB):c.23347-50_23347-47dupTGTT http://identifiers.org/clinvar/257798 ^@ NM_001271208.1(NEB):c.23346+42T>C http://identifiers.org/clinvar/257797 ^@ NM_001271208.1(NEB):c.23290G>A (p.Ala7764Thr) http://identifiers.org/clinvar/257796 ^@ NM_001271208.1(NEB):c.23246G>A (p.Arg7749Gln) http://identifiers.org/clinvar/257794 ^@ NM_001271208.1(NEB):c.23122-21T>C http://identifiers.org/clinvar/257792 ^@ NM_001271208.1(NEB):c.22905+32C>T http://identifiers.org/clinvar/257791 ^@ NM_001271208.1(NEB):c.22800+40C>T http://identifiers.org/clinvar/257790 ^@ NM_001271208.1(NEB):c.21945+13A>C http://identifiers.org/clinvar/257789 ^@ NM_001271208.1(NEB):c.21511A>T (p.Met7171Leu) http://identifiers.org/clinvar/257788 ^@ NM_001271208.1(NEB):c.21487T>C (p.Leu7163=) http://identifiers.org/clinvar/257786 ^@ NM_001271208.1(NEB):c.20998-44A>C http://identifiers.org/clinvar/257787 ^@ NM_001271208.1(NEB):c.20998-49C>T http://identifiers.org/clinvar/257785 ^@ NM_001271208.1(NEB):c.20466+11A>G http://identifiers.org/clinvar/257784 ^@ NM_001271208.1(NEB):c.20263-18G>A http://identifiers.org/clinvar/257783 ^@ NM_001271208.1(NEB):c.20158-42G>A http://identifiers.org/clinvar/257782 ^@ NM_001271208.1(NEB):c.19732-39G>C http://identifiers.org/clinvar/257781 ^@ NM_001271208.1(NEB):c.19482C>T (p.Pro6494=) http://identifiers.org/clinvar/257780 ^@ NM_001271208.1(NEB):c.19429-28T>A http://identifiers.org/clinvar/257779 ^@ NM_001271208.1(NEB):c.19314+42C>T http://identifiers.org/clinvar/257778 ^@ NM_001271208.1(NEB):c.19206+46C>A http://identifiers.org/clinvar/257777 ^@ NM_001271208.1(NEB):c.19101+41C>T http://identifiers.org/clinvar/257776 ^@ NM_001271208.1(NEB):c.18861C>T (p.Arg6287=) http://identifiers.org/clinvar/257775 ^@ NM_001271208.1(NEB):c.18692C>T (p.Ala6231Val) http://identifiers.org/clinvar/257774 ^@ NM_001271208.1(NEB):c.18580-32C>T http://identifiers.org/clinvar/257772 ^@ NM_001271208.1(NEB):c.18157-20A>G http://identifiers.org/clinvar/257771 ^@ NM_001271208.1(NEB):c.17736+36C>T http://identifiers.org/clinvar/257770 ^@ NM_001271208.1(NEB):c.17049G>T (p.Ala5683=) http://identifiers.org/clinvar/257769 ^@ NM_001271208.1(NEB):c.16788C>T (p.Asn5596=) http://identifiers.org/clinvar/257766 ^@ NM_001271208.1(NEB):c.16704+12G>C http://identifiers.org/clinvar/257765 ^@ NM_001271208.1(NEB):c.16637G>A (p.Arg5546His) http://identifiers.org/clinvar/257764 ^@ NM_001271208.1(NEB):c.16544A>C (p.Lys5515Thr) http://identifiers.org/clinvar/257763 ^@ NM_001271208.1(NEB):c.16542C>G (p.Ala5514=) http://identifiers.org/clinvar/257762 ^@ NM_001271208.1(NEB):c.16450G>A (p.Ala5484Thr) http://identifiers.org/clinvar/257761 ^@ NM_001271208.1(NEB):c.16449C>T (p.Ser5483=) http://identifiers.org/clinvar/257760 ^@ NM_001271208.1(NEB):c.16392C>T (p.Asp5464=) http://identifiers.org/clinvar/257759 ^@ NM_001271208.1(NEB):c.16284+11A>G http://identifiers.org/clinvar/257758 ^@ NM_001271208.1(NEB):c.16269C>T (p.Ala5423=) http://identifiers.org/clinvar/257757 ^@ NM_001271208.1(NEB):c.16192G>A (p.Asp5398Asn) http://identifiers.org/clinvar/257756 ^@ NM_001271208.1(NEB):c.16021T>C (p.Leu5341=) http://identifiers.org/clinvar/257755 ^@ NM_001271208.1(NEB):c.15821A>T (p.Asn5274Ile) http://identifiers.org/clinvar/257753 ^@ NM_001271208.1(NEB):c.15246+12C>G http://identifiers.org/clinvar/257752 ^@ NM_001271208.1(NEB):c.15179A>G (p.His5060Arg) http://identifiers.org/clinvar/257751 ^@ NM_001271208.1(NEB):c.15086A>C (p.Lys5029Thr) http://identifiers.org/clinvar/257749 ^@ NM_001271208.1(NEB):c.14934+16_14934+17insG http://identifiers.org/clinvar/257750 ^@ NM_001271208.1(NEB):c.14934T>C (p.Asp4978=) http://identifiers.org/clinvar/257748 ^@ NM_001271208.1(NEB):c.14914T>A (p.Ser4972Thr) http://identifiers.org/clinvar/257747 ^@ NM_001271208.1(NEB):c.14826+11G>A http://identifiers.org/clinvar/257746 ^@ NM_001271208.1(NEB):c.14826+10C>T http://identifiers.org/clinvar/257745 ^@ NM_001271208.1(NEB):c.14811T>C (p.Ala4937=) http://identifiers.org/clinvar/257744 ^@ NM_001271208.1(NEB):c.14785C>T (p.Leu4929=) http://identifiers.org/clinvar/257743 ^@ NM_001271208.1(NEB):c.14734A>G (p.Asn4912Asp) http://identifiers.org/clinvar/257742 ^@ NM_001271208.1(NEB):c.14633G>A (p.Arg4878His) http://identifiers.org/clinvar/257741 ^@ NM_001271208.1(NEB):c.13941C>T (p.Val4647=) http://identifiers.org/clinvar/257740 ^@ NM_001271208.1(NEB):c.13753A>G (p.Ile4585Val) http://identifiers.org/clinvar/257739 ^@ NM_001271208.1(NEB):c.13680G>C (p.Gln4560His) http://identifiers.org/clinvar/257737 ^@ NM_001271208.1(NEB):c.13626C>G (p.Ala4542=) http://identifiers.org/clinvar/257736 ^@ NM_001271208.1(NEB):c.13598A>T (p.Tyr4533Phe) http://identifiers.org/clinvar/257735 ^@ NM_001271208.1(NEB):c.13596G>A (p.Leu4532=) http://identifiers.org/clinvar/257734 ^@ NM_001271208.1(NEB):c.13534G>A (p.Ala4512Thr) http://identifiers.org/clinvar/257733 ^@ NM_001271208.1(NEB):c.13456T>A (p.Ser4486Thr) http://identifiers.org/clinvar/257732 ^@ NM_001271208.1(NEB):c.13368+6A>G http://identifiers.org/clinvar/257731 ^@ NM_001271208.1(NEB):c.13264-18G>A http://identifiers.org/clinvar/257730 ^@ NM_001271208.1(NEB):c.13081G>A (p.Glu4361Lys) http://identifiers.org/clinvar/257729 ^@ NM_001271208.1(NEB):c.13047C>T (p.Asp4349=) http://identifiers.org/clinvar/257728 ^@ NM_001271208.1(NEB):c.12912G>A (p.Pro4304=) http://identifiers.org/clinvar/257727 ^@ NM_001271208.1(NEB):c.12905A>T (p.Asn4302Ile) http://identifiers.org/clinvar/257726 ^@ NM_001271208.1(NEB):c.12018+29G>A http://identifiers.org/clinvar/257725 ^@ NM_001271208.1(NEB):c.11911-17T>C http://identifiers.org/clinvar/257724 ^@ NM_001271208.1(NEB):c.11806-7C>A http://identifiers.org/clinvar/257722 ^@ NM_001271208.1(NEB):c.11133T>C (p.Asp3711=) http://identifiers.org/clinvar/257721 ^@ NM_001271208.1(NEB):c.11043G>A (p.Val3681=) http://identifiers.org/clinvar/257720 ^@ NM_001271208.1(NEB):c.10872+27A>C http://identifiers.org/clinvar/257719 ^@ NM_001271208.1(NEB):c.10609G>A (p.Ala3537Thr) http://identifiers.org/clinvar/257718 ^@ NM_001271208.1(NEB):c.10347+6C>T http://identifiers.org/clinvar/257717 ^@ NM_001271208.1(NEB):c.10344C>T (p.Asn3448=) http://identifiers.org/clinvar/257716 ^@ NM_001271208.1(NEB):c.10338T>C (p.Asn3446=) http://identifiers.org/clinvar/257840 ^@ NM_001271208.1(NEB):c.9352A>T (p.Thr3118Ser) http://identifiers.org/clinvar/257838 ^@ NM_001271208.1(NEB):c.9155G>A (p.Arg3052Gln) http://identifiers.org/clinvar/257837 ^@ NM_001271208.1(NEB):c.9072G>A (p.Ala3024=) http://identifiers.org/clinvar/257836 ^@ NM_001271208.1(NEB):c.9071C>T (p.Ala3024Val) http://identifiers.org/clinvar/257835 ^@ NM_001271208.1(NEB):c.9052G>A (p.Asp3018Asn) http://identifiers.org/clinvar/257834 ^@ NM_001271208.1(NEB):c.8646C>T (p.Asp2882=) http://identifiers.org/clinvar/257833 ^@ NM_001271208.1(NEB):c.8335A>G (p.Ile2779Val) http://identifiers.org/clinvar/257831 ^@ NM_001271208.1(NEB):c.7644+25T>C http://identifiers.org/clinvar/257830 ^@ NM_001271208.1(NEB):c.7581C>T (p.Tyr2527=) http://identifiers.org/clinvar/257829 ^@ NM_001271208.1(NEB):c.7126G>C (p.Val2376Leu) http://identifiers.org/clinvar/257828 ^@ NM_001271208.1(NEB):c.6869C>T (p.Ala2290Val) http://identifiers.org/clinvar/257827 ^@ NM_001271208.1(NEB):c.6559C>T (p.Leu2187=) http://identifiers.org/clinvar/257826 ^@ NM_001271208.1(NEB):c.6449C>T (p.Ala2150Val) http://identifiers.org/clinvar/257825 ^@ NM_001271208.1(NEB):c.6381T>A (p.Asp2127Glu) http://identifiers.org/clinvar/257823 ^@ NM_001271208.1(NEB):c.5802C>T (p.Gly1934=) http://identifiers.org/clinvar/257822 ^@ NM_001271208.1(NEB):c.5763+35T>C http://identifiers.org/clinvar/257821 ^@ NM_001271208.1(NEB):c.5763+27G>A http://identifiers.org/clinvar/257820 ^@ NM_001271208.1(NEB):c.5763+15C>T http://identifiers.org/clinvar/257819 ^@ NM_001271208.1(NEB):c.5718C>T (p.Ala1906=) http://identifiers.org/clinvar/257818 ^@ NM_001271208.1(NEB):c.5376G>A (p.Lys1792=) http://identifiers.org/clinvar/257817 ^@ NM_001271208.1(NEB):c.5225T>G (p.Leu1742Arg) http://identifiers.org/clinvar/257816 ^@ NM_001271208.1(NEB):c.5031+48A>G http://identifiers.org/clinvar/257815 ^@ NM_001271208.1(NEB):c.4466G>A (p.Gly1489Asp) http://identifiers.org/clinvar/257814 ^@ NM_001271208.1(NEB):c.4206T>A (p.Asn1402Lys) http://identifiers.org/clinvar/257813 ^@ NM_001271208.1(NEB):c.3778T>C (p.Leu1260=) http://identifiers.org/clinvar/257812 ^@ NM_001271208.1(NEB):c.3775-18A>G http://identifiers.org/clinvar/257811 ^@ NM_001271208.1(NEB):c.3639C>T (p.Val1213=) http://identifiers.org/clinvar/257810 ^@ NM_001271208.1(NEB):c.3567+13T>C http://identifiers.org/clinvar/257809 ^@ NM_001271208.1(NEB):c.3373G>C (p.Glu1125Gln) http://identifiers.org/clinvar/257808 ^@ NM_001271208.1(NEB):c.3043-37_3043-33delCTTTA http://identifiers.org/clinvar/257807 ^@ NM_001271208.1(NEB):c.2781C>G (p.Pro927=) http://identifiers.org/clinvar/257795 ^@ NM_001271208.1(NEB):c.2318A>G (p.Tyr773Cys) http://identifiers.org/clinvar/256614 ^@ NM_000547.5(TPO):c.2540T>C (p.Val847Ala) http://identifiers.org/clinvar/257793 ^@ NM_001271208.1(NEB):c.2310+9T>A http://identifiers.org/clinvar/257773 ^@ NM_001271208.1(NEB):c.1856A>G (p.Lys619Arg) http://identifiers.org/clinvar/257768 ^@ NM_001271208.1(NEB):c.1675-13_1675-7delinsATTTT http://identifiers.org/clinvar/257767 ^@ NM_001271208.1(NEB):c.1674+30T>G http://identifiers.org/clinvar/257754 ^@ NM_001271208.1(NEB):c.1569+38G>A http://identifiers.org/clinvar/257738 ^@ NM_001271208.1(NEB):c.1366-4A>G http://identifiers.org/clinvar/257723 ^@ NM_001271208.1(NEB):c.1152+49A>G http://identifiers.org/clinvar/257839 ^@ NM_001271208.1(NEB):c.928-10T>C http://identifiers.org/clinvar/257832 ^@ NM_001271208.1(NEB):c.822+25_822+27dupGCC http://identifiers.org/clinvar/257824 ^@ NM_001271208.1(NEB):c.612+15C>T http://identifiers.org/clinvar/257466 ^@ NM_001105.4(ACVR1):c.690G>A (p.Glu230=) http://identifiers.org/clinvar/257464 ^@ NM_001105.4(ACVR1):c.270C>T (p.Ala90=) http://identifiers.org/clinvar/257465 ^@ NM_001105.4(ACVR1):c.44C>G (p.Ala15Gly) http://identifiers.org/clinvar/261566 ^@ NM_022168.3(IFIH1):c.2836G>A (p.Ala946Thr) http://identifiers.org/clinvar/261565 ^@ NM_022168.3(IFIH1):c.2528A>G (p.His843Arg) http://identifiers.org/clinvar/261564 ^@ NM_022168.3(IFIH1):c.2454+4C>T http://identifiers.org/clinvar/261563 ^@ NM_022168.3(IFIH1):c.1641+1G>C http://identifiers.org/clinvar/260217 ^@ NM_012293.2(PXDN):c.*1G>T http://identifiers.org/clinvar/260231 ^@ NM_012293.2(PXDN):c.4124C>T (p.Thr1375Ile) http://identifiers.org/clinvar/260230 ^@ NM_012293.2(PXDN):c.4088G>A (p.Gly1363Glu) http://identifiers.org/clinvar/260229 ^@ NM_012293.2(PXDN):c.3953-14T>C http://identifiers.org/clinvar/260228 ^@ NM_012293.2(PXDN):c.3921A>G (p.Val1307=) http://identifiers.org/clinvar/260227 ^@ NM_012293.2(PXDN):c.3850G>T (p.Val1284Leu) http://identifiers.org/clinvar/260226 ^@ NM_012293.2(PXDN):c.3198C>T (p.Ala1066=) http://identifiers.org/clinvar/260225 ^@ NM_012293.2(PXDN):c.3093C>T (p.Tyr1031=) http://identifiers.org/clinvar/260224 ^@ NM_012293.2(PXDN):c.2892C>T (p.Asn964=) http://identifiers.org/clinvar/260223 ^@ NM_012293.2(PXDN):c.2730A>C (p.Ile910=) http://identifiers.org/clinvar/260222 ^@ NM_012293.2(PXDN):c.2661C>T (p.Ser887=) http://identifiers.org/clinvar/261400 ^@ NM_021007.2(SCN2A):c.1672-16C>T http://identifiers.org/clinvar/260221 ^@ NM_012293.2(PXDN):c.1946+6G>A http://identifiers.org/clinvar/261782 ^@ NM_024753.4(TTC21B):c.3552G>A (p.Ala1184=) http://identifiers.org/clinvar/261781 ^@ NM_024753.4(TTC21B):c.3519T>G (p.Thr1173=) http://identifiers.org/clinvar/261780 ^@ NM_024753.4(TTC21B):c.3416T>C (p.Val1139Ala) http://identifiers.org/clinvar/261779 ^@ NM_024753.4(TTC21B):c.3084T>C (p.Cys1028=) http://identifiers.org/clinvar/261778 ^@ NM_024753.4(TTC21B):c.2950+16T>C http://identifiers.org/clinvar/261777 ^@ NM_024753.4(TTC21B):c.2682T>G (p.Ser894=) http://identifiers.org/clinvar/261776 ^@ NM_024753.4(TTC21B):c.2600G>A (p.Arg867His) http://identifiers.org/clinvar/261775 ^@ NM_024753.4(TTC21B):c.2462-19A>C http://identifiers.org/clinvar/261773 ^@ NM_024753.4(TTC21B):c.2211+13A>G http://identifiers.org/clinvar/261772 ^@ NM_024753.4(TTC21B):c.2161A>C (p.Asn721His) http://identifiers.org/clinvar/261771 ^@ NM_024753.4(TTC21B):c.2138+15T>C http://identifiers.org/clinvar/261770 ^@ NM_024753.4(TTC21B):c.2014C>T (p.Arg672Trp) http://identifiers.org/clinvar/261769 ^@ NM_024753.4(TTC21B):c.1867T>C (p.Leu623=) http://identifiers.org/clinvar/261768 ^@ NM_024753.4(TTC21B):c.1676T>G (p.Val559Gly) http://identifiers.org/clinvar/261767 ^@ NM_024753.4(TTC21B):c.1650A>G (p.Glu550=) http://identifiers.org/clinvar/261766 ^@ NM_024753.4(TTC21B):c.1386+15G>A http://identifiers.org/clinvar/261785 ^@ NM_024753.4(TTC21B):c.960C>G (p.Asn320Lys) http://identifiers.org/clinvar/261784 ^@ NM_024753.4(TTC21B):c.549T>C (p.Gly183=) http://identifiers.org/clinvar/261783 ^@ NM_024753.4(TTC21B):c.429+6T>C http://identifiers.org/clinvar/261774 ^@ NM_024753.4(TTC21B):c.231G>A (p.Leu77=) http://identifiers.org/clinvar/257622 ^@ NM_001202435.1(SCN1A):c.4284+14A>G http://identifiers.org/clinvar/257623 ^@ NM_001202435.1(SCN1A):c.602+6_602+7dupTG http://identifiers.org/clinvar/260220 ^@ NM_012293.2(PXDN):c.1836T>C (p.Asn612=) http://identifiers.org/clinvar/258888 ^@ NM_002977.3(SCN9A):c.4741+16T>A http://identifiers.org/clinvar/258886 ^@ NM_002977.3(SCN9A):c.4366-14G>T http://identifiers.org/clinvar/258887 ^@ NM_002977.3(SCN9A):c.4366-17_4366-16insA http://identifiers.org/clinvar/260219 ^@ NM_012293.2(PXDN):c.1568-19C>G http://identifiers.org/clinvar/258885 ^@ NM_002977.3(SCN9A):c.3369G>T (p.Leu1123Phe) http://identifiers.org/clinvar/258884 ^@ NM_002977.3(SCN9A):c.2970T>C (p.Tyr990=) http://identifiers.org/clinvar/258883 ^@ NM_002977.3(SCN9A):c.2841+11_2841+13delinsTT http://identifiers.org/clinvar/258882 ^@ NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) http://identifiers.org/clinvar/260218 ^@ NM_012293.2(PXDN):c.1239T>C (p.Ser413=) http://identifiers.org/clinvar/259153 ^@ NM_003742.2(ABCB11):c.3258A>G (p.Thr1086=) http://identifiers.org/clinvar/259152 ^@ NM_003742.2(ABCB11):c.3084A>G (p.Ala1028=) http://identifiers.org/clinvar/259150 ^@ NM_003742.2(ABCB11):c.2610+18A>C http://identifiers.org/clinvar/259149 ^@ NM_003742.2(ABCB11):c.2412A>G (p.Ala804=) http://identifiers.org/clinvar/259148 ^@ NM_003742.2(ABCB11):c.2344-17T>C http://identifiers.org/clinvar/259147 ^@ NM_003742.2(ABCB11):c.2179-17C>A http://identifiers.org/clinvar/259146 ^@ NM_003742.2(ABCB11):c.2134T>C (p.Leu712=) http://identifiers.org/clinvar/259145 ^@ NM_003742.2(ABCB11):c.2029A>G (p.Met677Val) http://identifiers.org/clinvar/259144 ^@ NM_003742.2(ABCB11):c.1185G>A (p.Glu395=) http://identifiers.org/clinvar/259158 ^@ NM_003742.2(ABCB11):c.909-15A>G http://identifiers.org/clinvar/259159 ^@ NM_003742.2(ABCB11):c.909-17G>A http://identifiers.org/clinvar/259157 ^@ NM_003742.2(ABCB11):c.807T>C (p.Tyr269=) http://identifiers.org/clinvar/259156 ^@ NM_003742.2(ABCB11):c.477+16G>A http://identifiers.org/clinvar/259155 ^@ NM_003742.2(ABCB11):c.402C>T (p.Ile134=) http://identifiers.org/clinvar/259154 ^@ NM_003742.2(ABCB11):c.389+8G>A http://identifiers.org/clinvar/259151 ^@ NM_003742.2(ABCB11):c.270T>C (p.Phe90=) http://identifiers.org/clinvar/259143 ^@ NM_003742.2(ABCB11):c.108T>C (p.Asp36=) http://identifiers.org/clinvar/259160 ^@ NM_003742.2(ABCB11):c.99-18T>C http://identifiers.org/clinvar/259412 ^@ NM_004525.2(LRP2):c.11498-13delT http://identifiers.org/clinvar/259420 ^@ NM_004525.2(LRP2):c.7253A>G (p.Glu2418Gly) http://identifiers.org/clinvar/259419 ^@ NM_004525.2(LRP2):c.6035G>A (p.Arg2012Lys) http://identifiers.org/clinvar/259418 ^@ NM_004525.2(LRP2):c.4294+19C>T http://identifiers.org/clinvar/259417 ^@ NM_004525.2(LRP2):c.4035C>T (p.Ser1345=) http://identifiers.org/clinvar/259416 ^@ NM_004525.2(LRP2):c.3667+20A>C http://identifiers.org/clinvar/259415 ^@ NM_004525.2(LRP2):c.3659C>T (p.Ala1220Val) http://identifiers.org/clinvar/259414 ^@ NM_004525.2(LRP2):c.3550+18T>G http://identifiers.org/clinvar/259413 ^@ NM_004525.2(LRP2):c.3550+14C>T http://identifiers.org/clinvar/259421 ^@ NM_004525.2(LRP2):c.769+18T>C http://identifiers.org/clinvar/259422 ^@ NM_004525.2(LRP2):c.79+15A>G http://identifiers.org/clinvar/262633 ^@ NM_152384.2(BBS5):c.-40G>C http://identifiers.org/clinvar/262636 ^@ NM_152384.2(BBS5):c.39C>G (p.Val13=) http://identifiers.org/clinvar/262634 ^@ NM_152384.2(BBS5):c.108C>T (p.Ser36=) http://identifiers.org/clinvar/262635 ^@ NM_152384.2(BBS5):c.285C>T (p.Leu95=) http://identifiers.org/clinvar/262637 ^@ NM_152384.2(BBS5):c.501T>A (p.Val167=) http://identifiers.org/clinvar/262638 ^@ NM_152384.2(BBS5):c.901-48G>C http://identifiers.org/clinvar/259913 ^@ NM_006063.2(KLHL41):c.8C>T (p.Ser3Phe) http://identifiers.org/clinvar/259911 ^@ NM_006063.2(KLHL41):c.811G>A (p.Ala271Thr) http://identifiers.org/clinvar/259912 ^@ NM_006063.2(KLHL41):c.863T>G (p.Leu288Arg) http://identifiers.org/clinvar/259908 ^@ NM_006063.2(KLHL41):c.1251A>G (p.Val417=) http://identifiers.org/clinvar/259909 ^@ NM_006063.2(KLHL41):c.1441A>G (p.Met481Val) http://identifiers.org/clinvar/259910 ^@ NM_006063.2(KLHL41):c.1737T>C (p.Ala579=) http://identifiers.org/clinvar/257234 ^@ NM_001039523.2(CHRNA1):c.1395C>T (p.Ile465=) http://identifiers.org/clinvar/257233 ^@ NM_001039523.2(CHRNA1):c.1318-38C>T http://identifiers.org/clinvar/257232 ^@ NM_001039523.2(CHRNA1):c.1317+35T>A http://identifiers.org/clinvar/257231 ^@ NM_001039523.2(CHRNA1):c.1078-33_1078-31delAAT http://identifiers.org/clinvar/257236 ^@ NM_001039523.2(CHRNA1):c.235-13T>C http://identifiers.org/clinvar/257237 ^@ NM_001039523.2(CHRNA1):c.235-40C>T http://identifiers.org/clinvar/257235 ^@ NM_001039523.2(CHRNA1):c.190-5delT http://identifiers.org/clinvar/257228 ^@ NM_001039523.2(CHRNA1):c.-13G>A http://identifiers.org/clinvar/257229 ^@ NM_001039523.2(CHRNA1):c.-17A>C http://identifiers.org/clinvar/257230 ^@ NM_001039523.2(CHRNA1):c.-478A>G http://identifiers.org/clinvar/259117 ^@ NM_003659.3(AGPS):c.1856-16G>T http://identifiers.org/clinvar/257310 ^@ NM_001042702.3(DFNB59):c.279T>C (p.Gly93=) http://identifiers.org/clinvar/262345 ^@ NM_133378.4(TTN):c.99977-46T>A http://identifiers.org/clinvar/262344 ^@ NM_133378.4(TTN):c.99689C>T (p.Pro33230Leu) http://identifiers.org/clinvar/262343 ^@ NM_133378.4(TTN):c.99357G>A (p.Lys33119=) http://identifiers.org/clinvar/262342 ^@ NM_133378.4(TTN):c.98033C>G (p.Ala32678Gly) http://identifiers.org/clinvar/262341 ^@ NM_133378.4(TTN):c.97635A>G (p.Ser32545=) http://identifiers.org/clinvar/262340 ^@ NM_133378.4(TTN):c.97239A>G (p.Glu32413=) http://identifiers.org/clinvar/262339 ^@ NM_133378.4(TTN):c.96837T>C (p.Tyr32279=) http://identifiers.org/clinvar/262338 ^@ NM_133378.4(TTN):c.95503C>T (p.Leu31835=) http://identifiers.org/clinvar/262337 ^@ NM_133378.4(TTN):c.95262T>C (p.Ser31754=) http://identifiers.org/clinvar/262336 ^@ NM_133378.4(TTN):c.93776G>A (p.Arg31259His) http://identifiers.org/clinvar/262333 ^@ NM_133378.4(TTN):c.84789A>G (p.Thr28263=) http://identifiers.org/clinvar/262332 ^@ NM_133378.4(TTN):c.83860+16T>C http://identifiers.org/clinvar/262330 ^@ NM_133378.4(TTN):c.60255T>C (p.Phe20085=) http://identifiers.org/clinvar/262329 ^@ NM_133378.4(TTN):c.59349G>A (p.Val19783=) http://identifiers.org/clinvar/262328 ^@ NM_133378.4(TTN):c.40935-15T>G http://identifiers.org/clinvar/262327 ^@ NM_133378.4(TTN):c.37881C>T (p.Ala12627=) http://identifiers.org/clinvar/262326 ^@ NM_133378.4(TTN):c.31325-12A>G http://identifiers.org/clinvar/262325 ^@ NM_133378.4(TTN):c.28114+20A>G http://identifiers.org/clinvar/262323 ^@ NM_133378.4(TTN):c.26301A>G (p.Gln8767=) http://identifiers.org/clinvar/262322 ^@ NM_133378.4(TTN):c.23259A>C (p.Thr7753=) http://identifiers.org/clinvar/262321 ^@ NM_133378.4(TTN):c.12643A>C (p.Lys4215Gln) http://identifiers.org/clinvar/262320 ^@ NM_133378.4(TTN):c.11829G>T (p.Leu3943=) http://identifiers.org/clinvar/262319 ^@ NM_133378.4(TTN):c.11829G>A (p.Leu3943=) http://identifiers.org/clinvar/262318 ^@ NM_133378.4(TTN):c.11284A>G (p.Lys3762Glu) http://identifiers.org/clinvar/262335 ^@ NM_133378.4(TTN):c.9164-9A>G http://identifiers.org/clinvar/262334 ^@ NM_133378.4(TTN):c.9163+15A>G http://identifiers.org/clinvar/262331 ^@ NM_133378.4(TTN):c.8117-14A>T http://identifiers.org/clinvar/262324 ^@ NM_133378.4(TTN):c.2778A>G (p.Val926=) http://identifiers.org/clinvar/257149 ^@ NM_001030311.2(CERKL):c.1211+13T>C http://identifiers.org/clinvar/257151 ^@ NM_001030311.2(CERKL):c.973+3A>G http://identifiers.org/clinvar/257150 ^@ NM_001030311.2(CERKL):c.242A>C (p.Asp81Ala) http://identifiers.org/clinvar/258771 ^@ NM_002500.4(NEUROD1):c.777C>T (p.Ser259=) http://identifiers.org/clinvar/254961 ^@ NM_000090.3(COL3A1):c.219C>T (p.Asp73=) http://identifiers.org/clinvar/254966 ^@ NM_000090.3(COL3A1):c.283-45G>T http://identifiers.org/clinvar/254972 ^@ NM_000090.3(COL3A1):c.582+12C>T http://identifiers.org/clinvar/254973 ^@ NM_000090.3(COL3A1):c.708C>G (p.Pro236=) http://identifiers.org/clinvar/254959 ^@ NM_000090.3(COL3A1):c.1050+43G>T http://identifiers.org/clinvar/254960 ^@ NM_000090.3(COL3A1):c.1977+10G>A http://identifiers.org/clinvar/254962 ^@ NM_000090.3(COL3A1):c.2337+23T>A http://identifiers.org/clinvar/254963 ^@ NM_000090.3(COL3A1):c.2391+28delC http://identifiers.org/clinvar/254964 ^@ NM_000090.3(COL3A1):c.2608-50C>T http://identifiers.org/clinvar/254965 ^@ NM_000090.3(COL3A1):c.2661+22T>A http://identifiers.org/clinvar/254968 ^@ NM_000090.3(COL3A1):c.3202-40G>A http://identifiers.org/clinvar/254967 ^@ NM_000090.3(COL3A1):c.3202-36C>T http://identifiers.org/clinvar/254969 ^@ NM_000090.3(COL3A1):c.3256-28G>A http://identifiers.org/clinvar/254970 ^@ NM_000090.3(COL3A1):c.3824-31C>A http://identifiers.org/clinvar/254971 ^@ NM_000090.3(COL3A1):c.4011+34A>G http://identifiers.org/clinvar/255994 ^@ NM_000393.4(COL5A2):c.*19G>A http://identifiers.org/clinvar/256004 ^@ NM_000393.4(COL5A2):c.4113+47C>T http://identifiers.org/clinvar/256002 ^@ NM_000393.4(COL5A2):c.3891T>C (p.Asp1297=) http://identifiers.org/clinvar/256001 ^@ NM_000393.4(COL5A2):c.3864G>A (p.Ser1288=) http://identifiers.org/clinvar/255999 ^@ NM_000393.4(COL5A2):c.3201+14C>T http://identifiers.org/clinvar/255998 ^@ NM_000393.4(COL5A2):c.2492G>C (p.Gly831Ala) http://identifiers.org/clinvar/255997 ^@ NM_000393.4(COL5A2):c.2032-39A>T http://identifiers.org/clinvar/255996 ^@ NM_000393.4(COL5A2):c.1716+12G>A http://identifiers.org/clinvar/255995 ^@ NM_000393.4(COL5A2):c.1105-3T>C http://identifiers.org/clinvar/256007 ^@ NM_000393.4(COL5A2):c.961-14T>C http://identifiers.org/clinvar/256006 ^@ NM_000393.4(COL5A2):c.907-5C>A http://identifiers.org/clinvar/256005 ^@ NM_000393.4(COL5A2):c.906+14A>G http://identifiers.org/clinvar/256003 ^@ NM_000393.4(COL5A2):c.403-3T>C http://identifiers.org/clinvar/256000 ^@ NM_000393.4(COL5A2):c.337-26T>C http://identifiers.org/clinvar/260422 ^@ NM_014585.5(SLC40A1):c.663T>C (p.Val221=) http://identifiers.org/clinvar/260420 ^@ NM_014585.5(SLC40A1):c.-8C>G http://identifiers.org/clinvar/260421 ^@ NM_014585.5(SLC40A1):c.-98G>C http://identifiers.org/clinvar/256877 ^@ NM_001006657.1(WDR35):c.2529A>G (p.Glu843=) http://identifiers.org/clinvar/256876 ^@ NM_001006657.1(WDR35):c.25-46G>A http://identifiers.org/clinvar/258647 ^@ NM_002381.4(MATN3):c.1406-4C>T http://identifiers.org/clinvar/258646 ^@ NM_002381.4(MATN3):c.1405+24C>G http://identifiers.org/clinvar/258649 ^@ NM_002381.4(MATN3):c.909G>A (p.Thr303=) http://identifiers.org/clinvar/258648 ^@ NM_002381.4(MATN3):c.754G>A (p.Glu252Lys) http://identifiers.org/clinvar/257315 ^@ NM_001044385.2(TMEM237):c.1134T>C (p.Tyr378=) http://identifiers.org/clinvar/257314 ^@ NM_001044385.2(TMEM237):c.1037+49C>T http://identifiers.org/clinvar/257313 ^@ NM_001044385.2(TMEM237):c.1024A>G (p.Asn342Asp) http://identifiers.org/clinvar/257324 ^@ NM_001044385.2(TMEM237):c.870-13_870-12delTT http://identifiers.org/clinvar/257321 ^@ NM_001044385.2(TMEM237):c.738G>A (p.Val246=) http://identifiers.org/clinvar/257320 ^@ NM_001044385.2(TMEM237):c.554-15G>A http://identifiers.org/clinvar/257319 ^@ NM_001044385.2(TMEM237):c.396-14C>T http://identifiers.org/clinvar/257318 ^@ NM_001044385.2(TMEM237):c.297A>G (p.Gln99=) http://identifiers.org/clinvar/257317 ^@ NM_001044385.2(TMEM237):c.274+23A>G http://identifiers.org/clinvar/257316 ^@ NM_001044385.2(TMEM237):c.194A>G (p.Asn65Ser) http://identifiers.org/clinvar/257323 ^@ NM_001044385.2(TMEM237):c.75-6T>C http://identifiers.org/clinvar/257322 ^@ NM_001044385.2(TMEM237):c.74+15C>T http://identifiers.org/clinvar/257312 ^@ NM_001044385.2(TMEM237):c.-4C>G http://identifiers.org/clinvar/257311 ^@ NM_001044385.2(TMEM237):c.-12G>A http://identifiers.org/clinvar/261379 ^@ NM_020919.3(ALS2):c.4581-48T>C http://identifiers.org/clinvar/261378 ^@ NM_020919.3(ALS2):c.4580+7G>A http://identifiers.org/clinvar/261377 ^@ NM_020919.3(ALS2):c.4015C>T (p.Leu1339=) http://identifiers.org/clinvar/261376 ^@ NM_020919.3(ALS2):c.4004+34A>G http://identifiers.org/clinvar/261375 ^@ NM_020919.3(ALS2):c.4004+25C>T http://identifiers.org/clinvar/261374 ^@ NM_020919.3(ALS2):c.3885G>A (p.Ala1295=) http://identifiers.org/clinvar/261373 ^@ NM_020919.3(ALS2):c.3248+50G>A http://identifiers.org/clinvar/261372 ^@ NM_020919.3(ALS2):c.2842-16G>A http://identifiers.org/clinvar/261371 ^@ NM_020919.3(ALS2):c.2841+48delT http://identifiers.org/clinvar/261369 ^@ NM_020919.3(ALS2):c.2796C>T (p.Ser932=) http://identifiers.org/clinvar/261368 ^@ NM_020919.3(ALS2):c.2466G>A (p.Val822=) http://identifiers.org/clinvar/261366 ^@ NM_020919.3(ALS2):c.1816-8C>T http://identifiers.org/clinvar/261365 ^@ NM_020919.3(ALS2):c.1114-27A>G http://identifiers.org/clinvar/261364 ^@ NM_020919.3(ALS2):c.1102G>A (p.Val368Met) http://identifiers.org/clinvar/261370 ^@ NM_020919.3(ALS2):c.280A>G (p.Ile94Val) http://identifiers.org/clinvar/261367 ^@ NM_020919.3(ALS2):c.20+7T>C http://identifiers.org/clinvar/257624 ^@ NM_001204.6(BMPR2):c.621+37C>G http://identifiers.org/clinvar/257625 ^@ NM_001204.6(BMPR2):c.853-21dupC http://identifiers.org/clinvar/259606 ^@ NM_005006.6(NDUFS1):c.1392+19T>C http://identifiers.org/clinvar/260059 ^@ NM_006891.3(CRYGD):c.*12T>C http://identifiers.org/clinvar/260061 ^@ NM_006891.3(CRYGD):c.285A>G (p.Arg95=) http://identifiers.org/clinvar/260060 ^@ NM_006891.3(CRYGD):c.189T>C (p.Tyr63=) http://identifiers.org/clinvar/260062 ^@ NM_006891.3(CRYGD):c.51T>C (p.Tyr17=) http://identifiers.org/clinvar/260063 ^@ NM_006891.3(CRYGD):c.9+20C>T http://identifiers.org/clinvar/255978 ^@ NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) http://identifiers.org/clinvar/255977 ^@ NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) http://identifiers.org/clinvar/255976 ^@ NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) http://identifiers.org/clinvar/255975 ^@ NM_000384.2(APOB):c.11904-7C>T http://identifiers.org/clinvar/255974 ^@ NM_000384.2(APOB):c.11808C>T (p.Ile3936=) http://identifiers.org/clinvar/255973 ^@ NM_000384.2(APOB):c.11244G>A (p.Thr3748=) http://identifiers.org/clinvar/255972 ^@ NM_000384.2(APOB):c.10737C>T (p.Thr3579=) http://identifiers.org/clinvar/255990 ^@ NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) http://identifiers.org/clinvar/255989 ^@ NM_000384.2(APOB):c.7998A>G (p.Val2666=) http://identifiers.org/clinvar/255988 ^@ NM_000384.2(APOB):c.7612C>T (p.Leu2538=) http://identifiers.org/clinvar/255987 ^@ NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) http://identifiers.org/clinvar/255986 ^@ NM_000384.2(APOB):c.7152T>C (p.Val2384=) http://identifiers.org/clinvar/255985 ^@ NM_000384.2(APOB):c.6513A>G (p.Leu2171=) http://identifiers.org/clinvar/255984 ^@ NM_000384.2(APOB):c.3509-10G>A http://identifiers.org/clinvar/255982 ^@ NM_000384.2(APOB):c.3122-6G>A http://identifiers.org/clinvar/255981 ^@ NM_000384.2(APOB):c.2706C>T (p.Asn902=) http://identifiers.org/clinvar/255980 ^@ NM_000384.2(APOB):c.2604+15G>C http://identifiers.org/clinvar/255979 ^@ NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) http://identifiers.org/clinvar/255983 ^@ NM_000384.2(APOB):c.35_43delTGGCGCTGC (p.Leu12_Leu14del) http://identifiers.org/clinvar/258478 ^@ NM_001875.4(CPS1):c.2265C>A (p.Ser755=) http://identifiers.org/clinvar/258479 ^@ NM_001875.4(CPS1):c.3405-29A>T http://identifiers.org/clinvar/258480 ^@ NM_001875.4(CPS1):c.3481-8C>T http://identifiers.org/clinvar/258481 ^@ NM_001875.4(CPS1):c.3558+38C>G http://identifiers.org/clinvar/258482 ^@ NM_001875.4(CPS1):c.3756+45C>T http://identifiers.org/clinvar/258483 ^@ NM_001875.4(CPS1):c.3928-8delT http://identifiers.org/clinvar/258484 ^@ NM_001875.4(CPS1):c.4126G>A (p.Gly1376Ser) http://identifiers.org/clinvar/256214 ^@ NM_000465.3(BARD1):c.1568+14C>T http://identifiers.org/clinvar/256213 ^@ NM_000465.3(BARD1):c.1315-19G>A http://identifiers.org/clinvar/262833 ^@ NM_173076.2(ABCA12):c.7105-17C>T http://identifiers.org/clinvar/262832 ^@ NM_173076.2(ABCA12):c.6648G>T (p.Arg2216Ser) http://identifiers.org/clinvar/262831 ^@ NM_173076.2(ABCA12):c.6306C>T (p.Tyr2102=) http://identifiers.org/clinvar/262830 ^@ NM_173076.2(ABCA12):c.5469-16T>C http://identifiers.org/clinvar/262829 ^@ NM_173076.2(ABCA12):c.5400G>A (p.Thr1800=) http://identifiers.org/clinvar/262828 ^@ NM_173076.2(ABCA12):c.4163+20T>C http://identifiers.org/clinvar/262827 ^@ NM_173076.2(ABCA12):c.4126T>C (p.Leu1376=) http://identifiers.org/clinvar/262826 ^@ NM_173076.2(ABCA12):c.3726G>A (p.Pro1242=) http://identifiers.org/clinvar/262825 ^@ NM_173076.2(ABCA12):c.3033A>G (p.Pro1011=) http://identifiers.org/clinvar/262824 ^@ NM_173076.2(ABCA12):c.2329T>A (p.Ser777Thr) http://identifiers.org/clinvar/262823 ^@ NM_173076.2(ABCA12):c.2124A>G (p.Ala708=) http://identifiers.org/clinvar/262822 ^@ NM_173076.2(ABCA12):c.1892G>A (p.Arg631Gln) http://identifiers.org/clinvar/262821 ^@ NM_173076.2(ABCA12):c.1765C>A (p.Pro589Thr) http://identifiers.org/clinvar/262834 ^@ NM_173076.2(ABCA12):c.888G>A (p.Val296=) http://identifiers.org/clinvar/260337 ^@ NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/260344 ^@ NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=) http://identifiers.org/clinvar/260345 ^@ NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=) http://identifiers.org/clinvar/260346 ^@ NM_014140.3(SMARCAL1):c.765T>C (p.Asn255=) http://identifiers.org/clinvar/260347 ^@ NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) http://identifiers.org/clinvar/260338 ^@ NM_014140.3(SMARCAL1):c.1902G>A (p.Lys634=) http://identifiers.org/clinvar/260339 ^@ NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) http://identifiers.org/clinvar/260340 ^@ NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=) http://identifiers.org/clinvar/260341 ^@ NM_014140.3(SMARCAL1):c.2070T>C (p.Thr690=) http://identifiers.org/clinvar/260342 ^@ NM_014140.3(SMARCAL1):c.2141+17T>C http://identifiers.org/clinvar/260343 ^@ NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) http://identifiers.org/clinvar/260659 ^@ NM_015488.4(PNKD):c.237-31G>T http://identifiers.org/clinvar/260661 ^@ NM_015488.4(PNKD):c.353-26C>T http://identifiers.org/clinvar/260660 ^@ NM_015488.4(PNKD):c.353-24C>T http://identifiers.org/clinvar/260662 ^@ NM_015488.4(PNKD):c.486G>A (p.Gly162=) http://identifiers.org/clinvar/260663 ^@ NM_015488.4(PNKD):c.781+12C>T http://identifiers.org/clinvar/260664 ^@ NM_015488.4(PNKD):c.985-31C>G http://identifiers.org/clinvar/256798 ^@ NM_000784.3(CYP27A1):c.673C>T (p.Arg225Cys) http://identifiers.org/clinvar/256797 ^@ NM_000784.3(CYP27A1):c.1434C>A (p.Gly478=) http://identifiers.org/clinvar/258491 ^@ NM_001927.3(DES):c.579-38C>T http://identifiers.org/clinvar/258492 ^@ NM_001927.3(DES):c.736-35C>A http://identifiers.org/clinvar/262981 ^@ NM_181457.3(PAX3):c.321+8G>A http://identifiers.org/clinvar/259092 ^@ NM_003590.4(CUL3):c.1992A>G (p.Gln664=) http://identifiers.org/clinvar/259091 ^@ NM_003590.4(CUL3):c.1699G>A (p.Val567Ile) http://identifiers.org/clinvar/259090 ^@ NM_003590.4(CUL3):c.1485+13G>A http://identifiers.org/clinvar/255044 ^@ NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) http://identifiers.org/clinvar/255043 ^@ NM_000092.4(COL4A4):c.4932C>T (p.Phe1644=) http://identifiers.org/clinvar/255042 ^@ NM_000092.4(COL4A4):c.4674G>A (p.Ala1558=) http://identifiers.org/clinvar/255041 ^@ NM_000092.4(COL4A4):c.4548A>G (p.Val1516=) http://identifiers.org/clinvar/255040 ^@ NM_000092.4(COL4A4):c.4523-8T>C http://identifiers.org/clinvar/255039 ^@ NM_000092.4(COL4A4):c.4217-15T>C http://identifiers.org/clinvar/255038 ^@ NM_000092.4(COL4A4):c.4207T>C (p.Ser1403Pro) http://identifiers.org/clinvar/255037 ^@ NM_000092.4(COL4A4):c.4090+14T>C http://identifiers.org/clinvar/255036 ^@ NM_000092.4(COL4A4):c.4080G>A (p.Pro1360=) http://identifiers.org/clinvar/255035 ^@ NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) http://identifiers.org/clinvar/255034 ^@ NM_000092.4(COL4A4):c.3963T>C (p.Asp1321=) http://identifiers.org/clinvar/255033 ^@ NM_000092.4(COL4A4):c.3817+9G>C http://identifiers.org/clinvar/255032 ^@ NM_000092.4(COL4A4):c.3684G>A (p.Lys1228=) http://identifiers.org/clinvar/255031 ^@ NM_000092.4(COL4A4):c.3594G>A (p.Gly1198=) http://identifiers.org/clinvar/255030 ^@ NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) http://identifiers.org/clinvar/255029 ^@ NM_000092.4(COL4A4):c.3215-18G>T http://identifiers.org/clinvar/255028 ^@ NM_000092.4(COL4A4):c.3011C>T (p.Pro1004Leu) http://identifiers.org/clinvar/255027 ^@ NM_000092.4(COL4A4):c.2996G>A (p.Gly999Glu) http://identifiers.org/clinvar/255025 ^@ NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) http://identifiers.org/clinvar/255024 ^@ NM_000092.4(COL4A4):c.2717-5A>T http://identifiers.org/clinvar/255023 ^@ NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) http://identifiers.org/clinvar/255022 ^@ NM_000092.4(COL4A4):c.2529G>A (p.Gly843=) http://identifiers.org/clinvar/255021 ^@ NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) http://identifiers.org/clinvar/255020 ^@ NM_000092.4(COL4A4):c.2384-5T>C http://identifiers.org/clinvar/255019 ^@ NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) http://identifiers.org/clinvar/255018 ^@ NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) http://identifiers.org/clinvar/255015 ^@ NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) http://identifiers.org/clinvar/255014 ^@ NM_000092.4(COL4A4):c.1444C>T (p.Pro482Ser) http://identifiers.org/clinvar/255013 ^@ NM_000092.4(COL4A4):c.1323T>C (p.Pro441=) http://identifiers.org/clinvar/255026 ^@ NM_000092.4(COL4A4):c.291C>T (p.Arg97=) http://identifiers.org/clinvar/255017 ^@ NM_000092.4(COL4A4):c.195T>C (p.Gly65=) http://identifiers.org/clinvar/255012 ^@ NM_000092.4(COL4A4):c.102A>G (p.Gln34=) http://identifiers.org/clinvar/255045 ^@ NM_000092.4(COL4A4):c.99A>T (p.Val33=) http://identifiers.org/clinvar/255016 ^@ NM_000092.4(COL4A4):c.17T>C (p.Ile6Thr) http://identifiers.org/clinvar/255011 ^@ NM_000092.4(COL4A4):c.-2C>T http://identifiers.org/clinvar/255004 ^@ NM_000091.4(COL4A3):c.73C>T (p.Pro25Ser) http://identifiers.org/clinvar/255008 ^@ NM_000091.4(COL4A3):c.88-4C>T http://identifiers.org/clinvar/254978 ^@ NM_000091.4(COL4A3):c.127G>C (p.Gly43Arg) http://identifiers.org/clinvar/254981 ^@ NM_000091.4(COL4A3):c.144+12C>A http://identifiers.org/clinvar/254986 ^@ NM_000091.4(COL4A3):c.222G>T (p.Pro74=) http://identifiers.org/clinvar/254990 ^@ NM_000091.4(COL4A3):c.325-18G>T http://identifiers.org/clinvar/254994 ^@ NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) http://identifiers.org/clinvar/254996 ^@ NM_000091.4(COL4A3):c.422T>C (p.Leu141Pro) http://identifiers.org/clinvar/255001 ^@ NM_000091.4(COL4A3):c.485A>G (p.Glu162Gly) http://identifiers.org/clinvar/255003 ^@ NM_000091.4(COL4A3):c.547-9A>C http://identifiers.org/clinvar/255005 ^@ NM_000091.4(COL4A3):c.766-13G>A http://identifiers.org/clinvar/255006 ^@ NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) http://identifiers.org/clinvar/255007 ^@ NM_000091.4(COL4A3):c.828+20A>G http://identifiers.org/clinvar/255009 ^@ NM_000091.4(COL4A3):c.933+14T>C http://identifiers.org/clinvar/255010 ^@ NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) http://identifiers.org/clinvar/254974 ^@ NM_000091.4(COL4A3):c.1030-18G>A http://identifiers.org/clinvar/254975 ^@ NM_000091.4(COL4A3):c.1115-20T>C http://identifiers.org/clinvar/254976 ^@ NM_000091.4(COL4A3):c.1195C>T (p.Leu399=) http://identifiers.org/clinvar/254977 ^@ NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) http://identifiers.org/clinvar/254979 ^@ NM_000091.4(COL4A3):c.1352A>G (p.His451Arg) http://identifiers.org/clinvar/254980 ^@ NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) http://identifiers.org/clinvar/254982 ^@ NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) http://identifiers.org/clinvar/254983 ^@ NM_000091.4(COL4A3):c.1505-11T>C http://identifiers.org/clinvar/254984 ^@ NM_000091.4(COL4A3):c.1576-15T>G http://identifiers.org/clinvar/254985 ^@ NM_000091.4(COL4A3):c.1721C>T (p.Pro574Leu) http://identifiers.org/clinvar/254987 ^@ NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) http://identifiers.org/clinvar/254988 ^@ NM_000091.4(COL4A3):c.2715C>T (p.Pro905=) http://identifiers.org/clinvar/254989 ^@ NM_000091.4(COL4A3):c.3031C>T (p.Arg1011Cys) http://identifiers.org/clinvar/254991 ^@ NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) http://identifiers.org/clinvar/254992 ^@ NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) http://identifiers.org/clinvar/254993 ^@ NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) http://identifiers.org/clinvar/254995 ^@ NM_000091.4(COL4A3):c.3807C>A (p.Asp1269Glu) http://identifiers.org/clinvar/254997 ^@ NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) http://identifiers.org/clinvar/254998 ^@ NM_000091.4(COL4A3):c.4484A>G (p.Gln1495Arg) http://identifiers.org/clinvar/254999 ^@ NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) http://identifiers.org/clinvar/255000 ^@ NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) http://identifiers.org/clinvar/255002 ^@ NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) http://identifiers.org/clinvar/262632 ^@ NM_152383.4(DIS3L2):c.456A>G (p.Gln152=) http://identifiers.org/clinvar/262630 ^@ NM_152383.4(DIS3L2):c.1448G>A (p.Arg483Gln) http://identifiers.org/clinvar/262631 ^@ NM_152383.4(DIS3L2):c.2646A>G (p.Ser882=) http://identifiers.org/clinvar/259556 ^@ NM_004826.3(ECEL1):c.1890C>T (p.Asn630=) http://identifiers.org/clinvar/259557 ^@ NM_004826.3(ECEL1):c.855+20G>C http://identifiers.org/clinvar/256780 ^@ NM_000751.2(CHRND):c.198+14C>T http://identifiers.org/clinvar/256781 ^@ NM_000751.2(CHRND):c.817G>A (p.Asp273Asn) http://identifiers.org/clinvar/256783 ^@ NM_000751.2(CHRND):c.821-52_821-18del35 http://identifiers.org/clinvar/256782 ^@ NM_000751.2(CHRND):c.821-37G>A http://identifiers.org/clinvar/256779 ^@ NM_000751.2(CHRND):c.1372-50T>G http://identifiers.org/clinvar/259665 ^@ NM_005199.4(CHRNG):c.144G>A (p.Ser48=) http://identifiers.org/clinvar/259666 ^@ NM_005199.4(CHRNG):c.241-5T>C http://identifiers.org/clinvar/259667 ^@ NM_005199.4(CHRNG):c.445G>A (p.Ala149Thr) http://identifiers.org/clinvar/259668 ^@ NM_005199.4(CHRNG):c.471C>T (p.Phe157=) http://identifiers.org/clinvar/259669 ^@ NM_005199.4(CHRNG):c.543G>A (p.Gln181=) http://identifiers.org/clinvar/259670 ^@ NM_005199.4(CHRNG):c.921-12C>T http://identifiers.org/clinvar/259662 ^@ NM_005199.4(CHRNG):c.1035+19C>T http://identifiers.org/clinvar/259663 ^@ NM_005199.4(CHRNG):c.1035+25A>C http://identifiers.org/clinvar/259664 ^@ NM_005199.4(CHRNG):c.1035+49C>T http://identifiers.org/clinvar/259316 ^@ NM_004369.3(COL6A3):c.8568-19A>G http://identifiers.org/clinvar/259315 ^@ NM_004369.3(COL6A3):c.8465-7dupT http://identifiers.org/clinvar/259314 ^@ NM_004369.3(COL6A3):c.6879+33C>T http://identifiers.org/clinvar/259313 ^@ NM_004369.3(COL6A3):c.6754-9C>G http://identifiers.org/clinvar/259312 ^@ NM_004369.3(COL6A3):c.6690+39T>C http://identifiers.org/clinvar/259311 ^@ NM_004369.3(COL6A3):c.6538-13T>C http://identifiers.org/clinvar/259310 ^@ NM_004369.3(COL6A3):c.6156+16C>G http://identifiers.org/clinvar/259309 ^@ NM_004369.3(COL6A3):c.6064-6C>T http://identifiers.org/clinvar/259308 ^@ NM_004369.3(COL6A3):c.5917+27A>G http://identifiers.org/clinvar/259307 ^@ NM_004369.3(COL6A3):c.5838+7G>C http://identifiers.org/clinvar/259306 ^@ NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) http://identifiers.org/clinvar/259304 ^@ NM_004369.3(COL6A3):c.5241C>T (p.Ala1747=) http://identifiers.org/clinvar/259303 ^@ NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) http://identifiers.org/clinvar/259301 ^@ NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) http://identifiers.org/clinvar/259300 ^@ NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) http://identifiers.org/clinvar/259299 ^@ NM_004369.3(COL6A3):c.4011G>A (p.Pro1337=) http://identifiers.org/clinvar/259298 ^@ NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) http://identifiers.org/clinvar/259297 ^@ NM_004369.3(COL6A3):c.2674G>A (p.Glu892Lys) http://identifiers.org/clinvar/259296 ^@ NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) http://identifiers.org/clinvar/259295 ^@ NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) http://identifiers.org/clinvar/259305 ^@ NM_004369.3(COL6A3):c.576G>T (p.Pro192=) http://identifiers.org/clinvar/259302 ^@ NM_004369.3(COL6A3):c.489G>A (p.Ala163=) http://identifiers.org/clinvar/259317 ^@ NM_004369.3(COL6A3):c.91+11G>C http://identifiers.org/clinvar/254726 ^@ NM_000030.2(AGXT):c.166-48_166-47ins74 http://identifiers.org/clinvar/254727 ^@ NM_000030.2(AGXT):c.732C>A (p.Ile244=) http://identifiers.org/clinvar/262566 ^@ NM_145038.4(DRC1):c.495T>G (p.Ala165=) http://identifiers.org/clinvar/262564 ^@ NM_145038.4(DRC1):c.1195T>C (p.Trp399Arg) http://identifiers.org/clinvar/262565 ^@ NM_145038.4(DRC1):c.1397-15A>G http://identifiers.org/clinvar/262563 ^@ NM_145038.4(DRC1):c.*9G>A http://identifiers.org/clinvar/263085 ^@ NM_194248.2(OTOF):c.5331C>T (p.Asp1777=) http://identifiers.org/clinvar/263084 ^@ NM_194248.2(OTOF):c.4799+16G>A http://identifiers.org/clinvar/263083 ^@ NM_194248.2(OTOF):c.2688G>A (p.Lys896=) http://identifiers.org/clinvar/263082 ^@ NM_194248.2(OTOF):c.2407-17C>T http://identifiers.org/clinvar/263081 ^@ NM_194248.2(OTOF):c.2315+16C>T http://identifiers.org/clinvar/263080 ^@ NM_194248.2(OTOF):c.2180A>G (p.Asn727Ser) http://identifiers.org/clinvar/263079 ^@ NM_194248.2(OTOF):c.1965C>A (p.Pro655=) http://identifiers.org/clinvar/263078 ^@ NM_194248.2(OTOF):c.1045+12C>T http://identifiers.org/clinvar/257185 ^@ NM_001034116.1(EIF2B4):c.930G>A (p.Glu310=) http://identifiers.org/clinvar/257184 ^@ NM_001034116.1(EIF2B4):c.782+26C>A http://identifiers.org/clinvar/257183 ^@ NM_001034116.1(EIF2B4):c.498+37T>C http://identifiers.org/clinvar/257182 ^@ NM_001034116.1(EIF2B4):c.32-40A>C http://identifiers.org/clinvar/259273 ^@ NM_004304.4(ALK):c.4338C>T (p.Thr1446=) http://identifiers.org/clinvar/259272 ^@ NM_004304.4(ALK):c.4165-6C>T http://identifiers.org/clinvar/259271 ^@ NM_004304.4(ALK):c.3359+6C>T http://identifiers.org/clinvar/259270 ^@ NM_004304.4(ALK):c.3036G>A (p.Thr1012=) http://identifiers.org/clinvar/259268 ^@ NM_004304.4(ALK):c.2535T>C (p.Gly845=) http://identifiers.org/clinvar/259266 ^@ NM_004304.4(ALK):c.1500A>G (p.Gln500=) http://identifiers.org/clinvar/259265 ^@ NM_004304.4(ALK):c.1464C>T (p.Gly488=) http://identifiers.org/clinvar/259274 ^@ NM_004304.4(ALK):c.702T>A (p.Pro234=) http://identifiers.org/clinvar/259267 ^@ NM_004304.4(ALK):c.171C>T (p.Asp57=) http://identifiers.org/clinvar/259269 ^@ NM_004304.4(ALK):c.27C>G (p.Leu9=) http://identifiers.org/clinvar/255970 ^@ NM_000379.3(XDH):c.3717G>A (p.Glu1239=) http://identifiers.org/clinvar/255969 ^@ NM_000379.3(XDH):c.3052-12C>G http://identifiers.org/clinvar/255968 ^@ NM_000379.3(XDH):c.3030T>C (p.Phe1010=) http://identifiers.org/clinvar/255967 ^@ NM_000379.3(XDH):c.2211C>T (p.Ile737=) http://identifiers.org/clinvar/255966 ^@ NM_000379.3(XDH):c.2107A>G (p.Ile703Val) http://identifiers.org/clinvar/255128 ^@ NM_000104.3(CYP1B1):c.-14C>T http://identifiers.org/clinvar/259848 ^@ NM_005633.3(SOS1):c.2964+43C>A http://identifiers.org/clinvar/259846 ^@ NM_005633.3(SOS1):c.2792-48T>C http://identifiers.org/clinvar/259847 ^@ NM_005633.3(SOS1):c.2792-50dupA http://identifiers.org/clinvar/259845 ^@ NM_005633.3(SOS1):c.2674-22C>G http://identifiers.org/clinvar/259844 ^@ NM_005633.3(SOS1):c.2168-50A>C http://identifiers.org/clinvar/259843 ^@ NM_005633.3(SOS1):c.2063+44T>C http://identifiers.org/clinvar/259841 ^@ NM_005633.3(SOS1):c.1203-41C>T http://identifiers.org/clinvar/259842 ^@ NM_005633.3(SOS1):c.162A>G (p.Gln54=) http://identifiers.org/clinvar/259762 ^@ NM_005413.3(SIX3):c.720G>T (p.Ala240=) http://identifiers.org/clinvar/259763 ^@ NM_005413.3(SIX3):c.831G>A (p.Pro277=) http://identifiers.org/clinvar/258643 ^@ NM_002354.2(EPCAM):c.426-20A>G http://identifiers.org/clinvar/258644 ^@ NM_002354.2(EPCAM):c.859-7C>T http://identifiers.org/clinvar/258645 ^@ NM_002354.2(EPCAM):c.904-12T>C http://identifiers.org/clinvar/255607 ^@ NM_000233.3(LHCGR):c.1065T>C (p.Asp355=) http://identifiers.org/clinvar/255609 ^@ NM_000233.3(LHCGR):c.935A>G (p.Asn312Ser) http://identifiers.org/clinvar/255608 ^@ NM_000233.3(LHCGR):c.866+8G>A http://identifiers.org/clinvar/255349 ^@ NM_000145.3(FSHR):c.594-45T>C http://identifiers.org/clinvar/255348 ^@ NM_000145.3(FSHR):c.24G>T (p.Leu8Phe) http://identifiers.org/clinvar/257227 ^@ NM_001039348.2(EFEMP1):c.1001-14C>T http://identifiers.org/clinvar/257495 ^@ NM_001114636.1(FANCL):c.996T>C (p.Ser332=) http://identifiers.org/clinvar/257494 ^@ NM_001114636.1(FANCL):c.375-49C>G http://identifiers.org/clinvar/257493 ^@ NM_001114636.1(FANCL):c.217-11T>C http://identifiers.org/clinvar/257492 ^@ NM_001114636.1(FANCL):c.-39A>G http://identifiers.org/clinvar/258781 ^@ NM_002618.3(PEX13):c.674A>G (p.Asp225Gly) http://identifiers.org/clinvar/260680 ^@ NM_015910.5(WDPCP):c.1916-6C>T http://identifiers.org/clinvar/260679 ^@ NM_015910.5(WDPCP):c.1788C>T (p.Asp596=) http://identifiers.org/clinvar/260683 ^@ NM_015910.5(WDPCP):c.802G>A (p.Gly268Ser) http://identifiers.org/clinvar/260681 ^@ NM_015910.5(WDPCP):c.499+20A>G http://identifiers.org/clinvar/260682 ^@ NM_015910.5(WDPCP):c.76-15T>A http://identifiers.org/clinvar/262019 ^@ NM_032208.2(ANTXR1):c.1185+16C>A http://identifiers.org/clinvar/257667 ^@ NM_001244710.1(GFPT1):c.1324+13delT http://identifiers.org/clinvar/258543 ^@ NM_002056.3(GFPT1):c.408+30T>C http://identifiers.org/clinvar/257668 ^@ NM_001244710.1(GFPT1):c.408+7A>T http://identifiers.org/clinvar/257666 ^@ NM_001244710.1(GFPT1):c.116-12A>G http://identifiers.org/clinvar/258544 ^@ NM_002056.3(GFPT1):c.7+36T>C http://identifiers.org/clinvar/261567 ^@ NM_022173.2(TIA1):c.1070A>G (p.Asn357Ser) http://identifiers.org/clinvar/261569 ^@ NM_022173.2(TIA1):c.953A>G (p.Gln318Arg) http://identifiers.org/clinvar/261568 ^@ NM_022173.2(TIA1):c.679+18G>T http://identifiers.org/clinvar/259076 ^@ NM_003494.3(DYSF):c.375G>A (p.Pro125=) http://identifiers.org/clinvar/259084 ^@ NM_003494.3(DYSF):c.594C>T (p.Pro198=) http://identifiers.org/clinvar/259085 ^@ NM_003494.3(DYSF):c.676G>A (p.Val226Met) http://identifiers.org/clinvar/259086 ^@ NM_003494.3(DYSF):c.793-34C>T http://identifiers.org/clinvar/259087 ^@ NM_003494.3(DYSF):c.855+39T>C http://identifiers.org/clinvar/259088 ^@ NM_003494.3(DYSF):c.937+43delT http://identifiers.org/clinvar/259064 ^@ NM_003494.3(DYSF):c.1053+7A>T http://identifiers.org/clinvar/259065 ^@ NM_003494.3(DYSF):c.1181-48A>G http://identifiers.org/clinvar/259066 ^@ NM_003494.3(DYSF):c.1753-24C>G http://identifiers.org/clinvar/259067 ^@ NM_003494.3(DYSF):c.1931-31C>A http://identifiers.org/clinvar/259068 ^@ NM_003494.3(DYSF):c.1962C>T (p.Asn654=) http://identifiers.org/clinvar/259069 ^@ NM_003494.3(DYSF):c.2053C>G (p.Leu685Val) http://identifiers.org/clinvar/259070 ^@ NM_003494.3(DYSF):c.2056-43G>T http://identifiers.org/clinvar/259071 ^@ NM_003494.3(DYSF):c.2568G>A (p.Leu856=) http://identifiers.org/clinvar/259072 ^@ NM_003494.3(DYSF):c.2926-15C>T http://identifiers.org/clinvar/259073 ^@ NM_003494.3(DYSF):c.3175-31G>A http://identifiers.org/clinvar/259074 ^@ NM_003494.3(DYSF):c.3349-10G>A http://identifiers.org/clinvar/259075 ^@ NM_003494.3(DYSF):c.3520+26C>G http://identifiers.org/clinvar/259077 ^@ NM_003494.3(DYSF):c.3798G>A (p.Pro1266=) http://identifiers.org/clinvar/259078 ^@ NM_003494.3(DYSF):c.4006-40C>T http://identifiers.org/clinvar/259079 ^@ NM_003494.3(DYSF):c.4425C>T (p.Ile1475=) http://identifiers.org/clinvar/259080 ^@ NM_003494.3(DYSF):c.4509+43A>G http://identifiers.org/clinvar/259081 ^@ NM_003494.3(DYSF):c.4887-37C>T http://identifiers.org/clinvar/259082 ^@ NM_003494.3(DYSF):c.5668-41C>T http://identifiers.org/clinvar/259083 ^@ NM_003494.3(DYSF):c.5724C>T (p.Phe1908=) http://identifiers.org/clinvar/260566 ^@ NM_015120.4(ALMS1):c.60_74dupGGAGGAGGAGGAGGA (p.Glu29_Ala30insGluGluGluGluGlu) http://identifiers.org/clinvar/260567 ^@ NM_015120.4(ALMS1):c.671C>A (p.Ser224Tyr) http://identifiers.org/clinvar/260570 ^@ NM_015120.4(ALMS1):c.945T>C (p.Pro315=) http://identifiers.org/clinvar/260562 ^@ NM_015120.4(ALMS1):c.1126A>T (p.Ile376Leu) http://identifiers.org/clinvar/260563 ^@ NM_015120.4(ALMS1):c.4241G>C (p.Gly1414Ala) http://identifiers.org/clinvar/260564 ^@ NM_015120.4(ALMS1):c.5460G>A (p.Glu1820=) http://identifiers.org/clinvar/260565 ^@ NM_015120.4(ALMS1):c.5623A>G (p.Lys1875Glu) http://identifiers.org/clinvar/260568 ^@ NM_015120.4(ALMS1):c.8271A>G (p.Glu2757=) http://identifiers.org/clinvar/260569 ^@ NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) http://identifiers.org/clinvar/259239 ^@ NM_004082.4(DCTN1):c.3610-20C>G http://identifiers.org/clinvar/259236 ^@ NM_004082.4(DCTN1):c.2646C>T (p.Ser882=) http://identifiers.org/clinvar/259235 ^@ NM_004082.4(DCTN1):c.2448A>G (p.Ala816=) http://identifiers.org/clinvar/259234 ^@ NM_004082.4(DCTN1):c.2016-23C>T http://identifiers.org/clinvar/259233 ^@ NM_004082.4(DCTN1):c.1605A>G (p.Thr535=) http://identifiers.org/clinvar/259232 ^@ NM_004082.4(DCTN1):c.1484G>A (p.Arg495Gln) http://identifiers.org/clinvar/259231 ^@ NM_004082.4(DCTN1):c.1288-3C>T http://identifiers.org/clinvar/259241 ^@ NM_004082.4(DCTN1):c.859C>A (p.Leu287Met) http://identifiers.org/clinvar/259240 ^@ NM_004082.4(DCTN1):c.558G>A (p.Pro186=) http://identifiers.org/clinvar/259237 ^@ NM_004082.4(DCTN1):c.280-42A>G http://identifiers.org/clinvar/259238 ^@ NM_004082.4(DCTN1):c.34-11G>T http://identifiers.org/clinvar/262091 ^@ NM_032603.4(LOXL3):c.1843A>T (p.Ile615Phe) http://identifiers.org/clinvar/262090 ^@ NM_032603.4(LOXL3):c.1124G>A (p.Arg375His) http://identifiers.org/clinvar/262092 ^@ NM_032603.4(LOXL3):c.79C>G (p.Pro27Ala) http://identifiers.org/clinvar/263205 ^@ NM_198843.2(SFTPB):c.892+16A>C http://identifiers.org/clinvar/261634 ^@ NM_022912.2(REEP1):c.596-17T>G http://identifiers.org/clinvar/261212 ^@ NM_020184.3(CNNM4):c.1947C>T (p.Ser649=) http://identifiers.org/clinvar/257964 ^@ NM_001298.2(CNGA3):c.72T>C (p.Asp24=) http://identifiers.org/clinvar/257961 ^@ NM_001298.2(CNGA3):c.102-16A>G http://identifiers.org/clinvar/257962 ^@ NM_001298.2(CNGA3):c.198C>T (p.Thr66=) http://identifiers.org/clinvar/257963 ^@ NM_001298.2(CNGA3):c.215+46T>G http://identifiers.org/clinvar/257085 ^@ NM_001018115.2(FANCD2):c.64+12G>C http://identifiers.org/clinvar/257083 ^@ NM_001018115.2(FANCD2):c.439-16A>G http://identifiers.org/clinvar/257084 ^@ NM_001018115.2(FANCD2):c.571-31G>A http://identifiers.org/clinvar/257086 ^@ NM_001018115.2(FANCD2):c.695+16G>C http://identifiers.org/clinvar/257087 ^@ NM_001018115.2(FANCD2):c.784-19C>T http://identifiers.org/clinvar/257088 ^@ NM_001018115.2(FANCD2):c.990-38C>G http://identifiers.org/clinvar/257064 ^@ NM_001018115.2(FANCD2):c.1098+27A>G http://identifiers.org/clinvar/257065 ^@ NM_001018115.2(FANCD2):c.1122A>G (p.Val374=) http://identifiers.org/clinvar/257066 ^@ NM_001018115.2(FANCD2):c.1336C>G (p.Leu446Val) http://identifiers.org/clinvar/257067 ^@ NM_001018115.2(FANCD2):c.1413+38A>C http://identifiers.org/clinvar/257068 ^@ NM_001018115.2(FANCD2):c.1414-23T>C http://identifiers.org/clinvar/257069 ^@ NM_001018115.2(FANCD2):c.1414-8C>G http://identifiers.org/clinvar/257070 ^@ NM_001018115.2(FANCD2):c.1509C>T (p.Asn503=) http://identifiers.org/clinvar/257071 ^@ NM_001018115.2(FANCD2):c.1656+14T>A http://identifiers.org/clinvar/257072 ^@ NM_001018115.2(FANCD2):c.2124T>C (p.Phe708=) http://identifiers.org/clinvar/257073 ^@ NM_001018115.2(FANCD2):c.2269+37A>G http://identifiers.org/clinvar/257074 ^@ NM_001018115.2(FANCD2):c.2270-28G>T http://identifiers.org/clinvar/257075 ^@ NM_001018115.2(FANCD2):c.2712C>T (p.Asn904=) http://identifiers.org/clinvar/257076 ^@ NM_001018115.2(FANCD2):c.2877A>G (p.Gln959=) http://identifiers.org/clinvar/257077 ^@ NM_001018115.2(FANCD2):c.2976+36T>C http://identifiers.org/clinvar/257078 ^@ NM_001018115.2(FANCD2):c.3560+42dupT http://identifiers.org/clinvar/257079 ^@ NM_001018115.2(FANCD2):c.3849+13A>G http://identifiers.org/clinvar/257080 ^@ NM_001018115.2(FANCD2):c.3850-17G>T http://identifiers.org/clinvar/257081 ^@ NM_001018115.2(FANCD2):c.4098T>G (p.Leu1366=) http://identifiers.org/clinvar/257082 ^@ NM_001018115.2(FANCD2):c.4185+33T>C http://identifiers.org/clinvar/257063 ^@ NM_001018115.2(FANCD2):c.*3C>T http://identifiers.org/clinvar/256649 ^@ NM_000551.3(VHL):c.-77C>T http://identifiers.org/clinvar/255482 ^@ NM_000187.3(HGD):c.360T>C (p.Cys120=) http://identifiers.org/clinvar/255481 ^@ NM_000187.3(HGD):c.240A>T (p.Gln80His) http://identifiers.org/clinvar/257092 ^@ NM_001023570.3(IQCB1):c.1568-19delT http://identifiers.org/clinvar/257091 ^@ NM_001023570.3(IQCB1):c.1410+18C>T http://identifiers.org/clinvar/257090 ^@ NM_001023570.3(IQCB1):c.1301G>A (p.Cys434Tyr) http://identifiers.org/clinvar/257094 ^@ NM_001023570.3(IQCB1):c.766+46T>C http://identifiers.org/clinvar/257093 ^@ NM_001023570.3(IQCB1):c.588T>C (p.Ser196=) http://identifiers.org/clinvar/257089 ^@ NM_001023570.3(IQCB1):c.101-48T>C http://identifiers.org/clinvar/257608 ^@ NM_001178065.1(CASR):c.492+18G>C http://identifiers.org/clinvar/257609 ^@ NM_001178065.1(CASR):c.546T>A (p.Ser182=) http://identifiers.org/clinvar/257604 ^@ NM_001178065.1(CASR):c.1491C>T (p.Ser497=) http://identifiers.org/clinvar/257605 ^@ NM_001178065.1(CASR):c.1762+16T>C http://identifiers.org/clinvar/257606 ^@ NM_001178065.1(CASR):c.1763-9A>G http://identifiers.org/clinvar/257607 ^@ NM_001178065.1(CASR):c.2442C>T (p.Ala814=) http://identifiers.org/clinvar/262291 ^@ NM_053025.3(MYLK):c.5114+8G>A http://identifiers.org/clinvar/262290 ^@ NM_053025.3(MYLK):c.5001C>T (p.Asn1667=) http://identifiers.org/clinvar/262289 ^@ NM_053025.3(MYLK):c.4838-3C>T http://identifiers.org/clinvar/262288 ^@ NM_053025.3(MYLK):c.4800G>A (p.Arg1600=) http://identifiers.org/clinvar/262286 ^@ NM_053025.3(MYLK):c.4710G>A (p.Ser1570=) http://identifiers.org/clinvar/262284 ^@ NM_053025.3(MYLK):c.4620-12G>A http://identifiers.org/clinvar/262285 ^@ NM_053025.3(MYLK):c.4620-18G>A http://identifiers.org/clinvar/262282 ^@ NM_053025.3(MYLK):c.4195G>A (p.Glu1399Lys) http://identifiers.org/clinvar/262281 ^@ NM_053025.3(MYLK):c.3987T>G (p.Asp1329Glu) http://identifiers.org/clinvar/262279 ^@ NM_053025.3(MYLK):c.3706A>G (p.Met1236Val) http://identifiers.org/clinvar/262278 ^@ NM_053025.3(MYLK):c.2628C>T (p.Arg876=) http://identifiers.org/clinvar/262277 ^@ NM_053025.3(MYLK):c.2127G>A (p.Val709=) http://identifiers.org/clinvar/262275 ^@ NM_053025.3(MYLK):c.1668C>T (p.Tyr556=) http://identifiers.org/clinvar/262298 ^@ NM_053025.3(MYLK):c.999G>A (p.Pro333=) http://identifiers.org/clinvar/262297 ^@ NM_053025.3(MYLK):c.771T>C (p.Asn257=) http://identifiers.org/clinvar/262296 ^@ NM_053025.3(MYLK):c.754+17G>A http://identifiers.org/clinvar/262295 ^@ NM_053025.3(MYLK):c.652C>T (p.Leu218=) http://identifiers.org/clinvar/262294 ^@ NM_053025.3(MYLK):c.639C>T (p.Asn213=) http://identifiers.org/clinvar/262293 ^@ NM_053025.3(MYLK):c.588+13_588+16delTCTG http://identifiers.org/clinvar/262292 ^@ NM_053025.3(MYLK):c.588+10C>T http://identifiers.org/clinvar/262287 ^@ NM_053025.3(MYLK):c.479C>G (p.Pro160Arg) http://identifiers.org/clinvar/262283 ^@ NM_053025.3(MYLK):c.422+14G>C http://identifiers.org/clinvar/262280 ^@ NM_053025.3(MYLK):c.373+18C>T http://identifiers.org/clinvar/262276 ^@ NM_053025.3(MYLK):c.207C>T (p.Asn69=) http://identifiers.org/clinvar/255959 ^@ NM_000373.3(UMPS):c.88A>G (p.Ser30Gly) http://identifiers.org/clinvar/255958 ^@ NM_000373.3(UMPS):c.1320C>T (p.Gly440=) http://identifiers.org/clinvar/261877 ^@ NM_025265.3(TSEN2):c.271+39delA http://identifiers.org/clinvar/261878 ^@ NM_025265.3(TSEN2):c.831+40C>T http://identifiers.org/clinvar/258851 ^@ NM_002880.3(RAF1):c.1193+39T>C http://identifiers.org/clinvar/258855 ^@ NM_002880.3(RAF1):c.991-42T>C http://identifiers.org/clinvar/258856 ^@ NM_002880.3(RAF1):c.991-43T>C http://identifiers.org/clinvar/258854 ^@ NM_002880.3(RAF1):c.863-16T>C http://identifiers.org/clinvar/258853 ^@ NM_002880.3(RAF1):c.681-37C>T http://identifiers.org/clinvar/258852 ^@ NM_002880.3(RAF1):c.680+11A>G http://identifiers.org/clinvar/257562 ^@ NM_001145661.1(GATA2):c.1233G>A (p.Ala411=) http://identifiers.org/clinvar/257561 ^@ NM_001145661.1(GATA2):c.1018-19C>T http://identifiers.org/clinvar/257568 ^@ NM_001145661.1(GATA2):c.872-5T>C http://identifiers.org/clinvar/257566 ^@ NM_001145661.1(GATA2):c.564G>C (p.Thr188=) http://identifiers.org/clinvar/257565 ^@ NM_001145661.1(GATA2):c.480C>T (p.Thr160=) http://identifiers.org/clinvar/257564 ^@ NM_001145661.1(GATA2):c.333C>T (p.His111=) http://identifiers.org/clinvar/257567 ^@ NM_001145661.1(GATA2):c.66C>G (p.Pro22=) http://identifiers.org/clinvar/257563 ^@ NM_001145661.1(GATA2):c.15C>G (p.Pro5=) http://identifiers.org/clinvar/257560 ^@ NM_001145661.1(GATA2):c.-5C>G http://identifiers.org/clinvar/255471 ^@ NM_000174.4(GP9):c.132G>A (p.Thr44=) http://identifiers.org/clinvar/255470 ^@ NM_000174.4(GP9):c.*7C>T http://identifiers.org/clinvar/262272 ^@ NM_052985.3(IFT122):c.273-43delT http://identifiers.org/clinvar/262273 ^@ NM_052985.3(IFT122):c.893+15G>A http://identifiers.org/clinvar/262274 ^@ NM_052985.3(IFT122):c.978G>T (p.Lys326Asn) http://identifiers.org/clinvar/262266 ^@ NM_052985.3(IFT122):c.1179C>T (p.Asp393=) http://identifiers.org/clinvar/262267 ^@ NM_052985.3(IFT122):c.1300+19C>T http://identifiers.org/clinvar/262268 ^@ NM_052985.3(IFT122):c.1807-12C>T http://identifiers.org/clinvar/262269 ^@ NM_052985.3(IFT122):c.2199+32A>G http://identifiers.org/clinvar/262270 ^@ NM_052985.3(IFT122):c.2213G>A (p.Arg738Gln) http://identifiers.org/clinvar/262271 ^@ NM_052985.3(IFT122):c.2528+33G>T http://identifiers.org/clinvar/256383 ^@ NM_000539.3(RHO):c.-26A>G http://identifiers.org/clinvar/256384 ^@ NM_000539.3(RHO):c.696+4C>T http://identifiers.org/clinvar/256381 ^@ NM_000539.3(RHO):c.*33C>T http://identifiers.org/clinvar/256382 ^@ NM_000539.3(RHO):c.*43C>A http://identifiers.org/clinvar/260114 ^@ NM_007117.4(TRH):c.22C>G (p.Leu8Val) http://identifiers.org/clinvar/260113 ^@ NM_007117.4(TRH):c.212-4C>T http://identifiers.org/clinvar/260115 ^@ NM_007117.4(TRH):c.384T>C (p.Asp128=) http://identifiers.org/clinvar/260116 ^@ NM_007117.4(TRH):c.624T>C (p.Leu208=) http://identifiers.org/clinvar/260117 ^@ NM_007117.4(TRH):c.711A>G (p.Arg237=) http://identifiers.org/clinvar/262714 ^@ NM_153240.4(NPHP3):c.3971T>C (p.Phe1324Ser) http://identifiers.org/clinvar/262711 ^@ NM_153240.4(NPHP3):c.3812+42C>T http://identifiers.org/clinvar/262710 ^@ NM_153240.4(NPHP3):c.3759G>A (p.Leu1253=) http://identifiers.org/clinvar/262709 ^@ NM_153240.4(NPHP3):c.3717G>A (p.Leu1239=) http://identifiers.org/clinvar/262708 ^@ NM_153240.4(NPHP3):c.3664T>C (p.Leu1222=) http://identifiers.org/clinvar/262707 ^@ NM_153240.4(NPHP3):c.3663C>T (p.Ala1221=) http://identifiers.org/clinvar/262706 ^@ NM_153240.4(NPHP3):c.3570+9G>T http://identifiers.org/clinvar/262705 ^@ NM_153240.4(NPHP3):c.3500G>A (p.Arg1167His) http://identifiers.org/clinvar/262704 ^@ NM_153240.4(NPHP3):c.3252A>G (p.Thr1084=) http://identifiers.org/clinvar/262703 ^@ NM_153240.4(NPHP3):c.3189A>G (p.Lys1063=) http://identifiers.org/clinvar/262702 ^@ NM_153240.4(NPHP3):c.3125+12dupT http://identifiers.org/clinvar/262701 ^@ NM_153240.4(NPHP3):c.3093A>G (p.Glu1031=) http://identifiers.org/clinvar/262700 ^@ NM_153240.4(NPHP3):c.2883+13G>C http://identifiers.org/clinvar/262699 ^@ NM_153240.4(NPHP3):c.2693+17A>G http://identifiers.org/clinvar/262698 ^@ NM_153240.4(NPHP3):c.2311-6A>G http://identifiers.org/clinvar/262697 ^@ NM_153240.4(NPHP3):c.2172-12C>T http://identifiers.org/clinvar/262696 ^@ NM_153240.4(NPHP3):c.2154C>T (p.Phe718=) http://identifiers.org/clinvar/262695 ^@ NM_153240.4(NPHP3):c.1985+4C>T http://identifiers.org/clinvar/262693 ^@ NM_153240.4(NPHP3):c.1887+6G>A http://identifiers.org/clinvar/262692 ^@ NM_153240.4(NPHP3):c.1743+37T>C http://identifiers.org/clinvar/262691 ^@ NM_153240.4(NPHP3):c.1027A>G (p.Ile343Val) http://identifiers.org/clinvar/262717 ^@ NM_153240.4(NPHP3):c.823+30C>T http://identifiers.org/clinvar/262716 ^@ NM_153240.4(NPHP3):c.670+13C>T http://identifiers.org/clinvar/262712 ^@ NM_153240.4(NPHP3):c.394-18C>G http://identifiers.org/clinvar/262713 ^@ NM_153240.4(NPHP3):c.394-45A>G http://identifiers.org/clinvar/262694 ^@ NM_153240.4(NPHP3):c.189G>C (p.Gly63=) http://identifiers.org/clinvar/262715 ^@ NM_153240.4(NPHP3):c.45G>T (p.Val15=) http://identifiers.org/clinvar/259089 ^@ NM_003571.3(BFSP2):c.1220C>A (p.Ala407Asp) http://identifiers.org/clinvar/256374 ^@ NM_000532.4(PCCB):c.372+31T>C http://identifiers.org/clinvar/256375 ^@ NM_000532.4(PCCB):c.544-20T>C http://identifiers.org/clinvar/256376 ^@ NM_000532.4(PCCB):c.967-46A>G http://identifiers.org/clinvar/256373 ^@ NM_000532.4(PCCB):c.1499-48A>G http://identifiers.org/clinvar/261663 ^@ NM_023067.3(FOXL2):c.819G>C (p.Ser273=) http://identifiers.org/clinvar/261662 ^@ NM_023067.3(FOXL2):c.536C>G (p.Ala179Gly) http://identifiers.org/clinvar/261661 ^@ NM_023067.3(FOXL2):c.501C>T (p.Phe167=) http://identifiers.org/clinvar/261660 ^@ NM_023067.3(FOXL2):c.-251G>A http://identifiers.org/clinvar/261698 ^@ NM_024334.2(TMEM43):c.512+19G>T http://identifiers.org/clinvar/259471 ^@ NM_004628.4(XPC):c.2605-40A>G http://identifiers.org/clinvar/259470 ^@ NM_004628.4(XPC):c.2604+28C>G http://identifiers.org/clinvar/259469 ^@ NM_004628.4(XPC):c.2251-37C>G http://identifiers.org/clinvar/259468 ^@ NM_004628.4(XPC):c.2033+4C>T http://identifiers.org/clinvar/259466 ^@ NM_004628.4(XPC):c.1443G>T (p.Lys481Asn) http://identifiers.org/clinvar/259475 ^@ NM_004628.4(XPC):c.901-22A>G http://identifiers.org/clinvar/259474 ^@ NM_004628.4(XPC):c.780-15C>T http://identifiers.org/clinvar/259473 ^@ NM_004628.4(XPC):c.622-16C>G http://identifiers.org/clinvar/259472 ^@ NM_004628.4(XPC):c.621+44C>G http://identifiers.org/clinvar/259467 ^@ NM_004628.4(XPC):c.147C>T (p.Ser49=) http://identifiers.org/clinvar/259465 ^@ NM_004628.4(XPC):c.-27G>C http://identifiers.org/clinvar/263073 ^@ NM_182943.2(PLOD2):c.1500+12A>G http://identifiers.org/clinvar/263074 ^@ NM_182943.2(PLOD2):c.338+4G>A http://identifiers.org/clinvar/256759 ^@ NM_000685.4(AGTR1):c.573C>T (p.Leu191=) http://identifiers.org/clinvar/256758 ^@ NM_000685.4(AGTR1):c.1062A>G (p.Pro354=) http://identifiers.org/clinvar/262023 ^@ NM_032383.4(HPS3):c.1164-25C>T http://identifiers.org/clinvar/262024 ^@ NM_032383.4(HPS3):c.2796+50C>T http://identifiers.org/clinvar/261633 ^@ NM_022788.4(P2RY12):c.36T>G (p.Gly12=) http://identifiers.org/clinvar/261632 ^@ NM_022788.4(P2RY12):c.18C>T (p.Asn6=) http://identifiers.org/clinvar/259855 ^@ NM_005677.3(COLQ):c.1338C>A (p.Ile446=) http://identifiers.org/clinvar/259854 ^@ NM_005677.3(COLQ):c.1299-31G>A http://identifiers.org/clinvar/259853 ^@ NM_005677.3(COLQ):c.1298+35C>A http://identifiers.org/clinvar/259852 ^@ NM_005677.3(COLQ):c.1298+34T>A http://identifiers.org/clinvar/259851 ^@ NM_005677.3(COLQ):c.1196-45C>T http://identifiers.org/clinvar/259850 ^@ NM_005677.3(COLQ):c.1108G>A (p.Asp370Asn) http://identifiers.org/clinvar/259862 ^@ NM_005677.3(COLQ):c.600+40G>A http://identifiers.org/clinvar/259861 ^@ NM_005677.3(COLQ):c.556-15A>G http://identifiers.org/clinvar/259860 ^@ NM_005677.3(COLQ):c.529-23A>G http://identifiers.org/clinvar/259859 ^@ NM_005677.3(COLQ):c.528+22A>G http://identifiers.org/clinvar/259857 ^@ NM_005677.3(COLQ):c.394-27C>G http://identifiers.org/clinvar/259858 ^@ NM_005677.3(COLQ):c.394-34C>T http://identifiers.org/clinvar/259856 ^@ NM_005677.3(COLQ):c.393+11C>T http://identifiers.org/clinvar/259849 ^@ NM_005677.3(COLQ):c.107-19G>A http://identifiers.org/clinvar/259863 ^@ NM_005677.3(COLQ):c.72G>A (p.Pro24=) http://identifiers.org/clinvar/259528 ^@ NM_004733.3(SLC33A1):c.512A>G (p.Asp171Gly) http://identifiers.org/clinvar/254777 ^@ NM_000055.3(BCHE):c.849G>C (p.Glu283Asp) http://identifiers.org/clinvar/255893 ^@ NM_000340.1(SLC2A2):c.*8delA http://identifiers.org/clinvar/255895 ^@ NM_000340.1(SLC2A2):c.1069-9T>C http://identifiers.org/clinvar/255900 ^@ NM_000340.1(SLC2A2):c.776-15C>T http://identifiers.org/clinvar/255899 ^@ NM_000340.1(SLC2A2):c.661C>T (p.Leu221=) http://identifiers.org/clinvar/255898 ^@ NM_000340.1(SLC2A2):c.301G>A (p.Val101Ile) http://identifiers.org/clinvar/255897 ^@ NM_000340.1(SLC2A2):c.247G>A (p.Glu83Lys) http://identifiers.org/clinvar/255896 ^@ NM_000340.1(SLC2A2):c.109-19A>G http://identifiers.org/clinvar/255894 ^@ NM_000340.1(SLC2A2):c.-2C>A http://identifiers.org/clinvar/263110 ^@ NM_198407.2(GHSR):c.477G>A (p.Arg159=) http://identifiers.org/clinvar/263109 ^@ NM_198407.2(GHSR):c.171C>T (p.Gly57=) http://identifiers.org/clinvar/259960 ^@ NM_006218.3(PIK3CA):c.318C>A (p.Gly106=) http://identifiers.org/clinvar/259957 ^@ NM_006218.3(PIK3CA):c.1060-17C>A http://identifiers.org/clinvar/259958 ^@ NM_006218.3(PIK3CA):c.1512A>T (p.Ala504=) http://identifiers.org/clinvar/259959 ^@ NM_006218.3(PIK3CA):c.1747-13T>C http://identifiers.org/clinvar/261426 ^@ NM_021629.3(GNB4):c.*3G>A http://identifiers.org/clinvar/261427 ^@ NM_021629.3(GNB4):c.117T>C (p.Ser39=) http://identifiers.org/clinvar/262972 ^@ NM_181426.1(CCDC39):c.2823A>G (p.Lys941=) http://identifiers.org/clinvar/262970 ^@ NM_181426.1(CCDC39):c.2408G>A (p.Cys803Tyr) http://identifiers.org/clinvar/262969 ^@ NM_181426.1(CCDC39):c.2367G>A (p.Thr789=) http://identifiers.org/clinvar/262968 ^@ NM_181426.1(CCDC39):c.2280A>G (p.Thr760=) http://identifiers.org/clinvar/262967 ^@ NM_181426.1(CCDC39):c.2159-16A>C http://identifiers.org/clinvar/262966 ^@ NM_181426.1(CCDC39):c.1896A>G (p.Leu632=) http://identifiers.org/clinvar/262965 ^@ NM_181426.1(CCDC39):c.1875-20G>A http://identifiers.org/clinvar/262964 ^@ NM_181426.1(CCDC39):c.1861C>T (p.Arg621Trp) http://identifiers.org/clinvar/262963 ^@ NM_181426.1(CCDC39):c.1742A>G (p.Glu581Gly) http://identifiers.org/clinvar/262962 ^@ NM_181426.1(CCDC39):c.1528-43A>G http://identifiers.org/clinvar/262961 ^@ NM_181426.1(CCDC39):c.1034+7A>T http://identifiers.org/clinvar/262960 ^@ NM_181426.1(CCDC39):c.1008G>A (p.Lys336=) http://identifiers.org/clinvar/262980 ^@ NM_181426.1(CCDC39):c.993T>C (p.Asn331=) http://identifiers.org/clinvar/262979 ^@ NM_181426.1(CCDC39):c.930+17_930+18del http://identifiers.org/clinvar/262978 ^@ NM_181426.1(CCDC39):c.930+12C>G http://identifiers.org/clinvar/262977 ^@ NM_181426.1(CCDC39):c.900T>A (p.His300Gln) http://identifiers.org/clinvar/262976 ^@ NM_181426.1(CCDC39):c.853G>A (p.Val285Met) http://identifiers.org/clinvar/262975 ^@ NM_181426.1(CCDC39):c.818T>C (p.Ile273Thr) http://identifiers.org/clinvar/262974 ^@ NM_181426.1(CCDC39):c.604G>A (p.Ala202Thr) http://identifiers.org/clinvar/262973 ^@ NM_181426.1(CCDC39):c.357+8T>C http://identifiers.org/clinvar/262971 ^@ NM_181426.1(CCDC39):c.25C>T (p.Leu9=) http://identifiers.org/clinvar/261207 ^@ NM_020166.4(MCCC1):c.1772G>A (p.Ser591Asn) http://identifiers.org/clinvar/261206 ^@ NM_020166.4(MCCC1):c.1594+39T>C http://identifiers.org/clinvar/261211 ^@ NM_020166.4(MCCC1):c.491+36A>G http://identifiers.org/clinvar/261210 ^@ NM_020166.4(MCCC1):c.491+35G>A http://identifiers.org/clinvar/261209 ^@ NM_020166.4(MCCC1):c.273+32C>T http://identifiers.org/clinvar/261208 ^@ NM_020166.4(MCCC1):c.231G>A (p.Ala77=) http://identifiers.org/clinvar/261205 ^@ NM_020166.4(MCCC1):c.-24A>G http://identifiers.org/clinvar/259194 ^@ NM_003907.2(EIF2B5):c.1614G>A (p.Pro538=) http://identifiers.org/clinvar/259195 ^@ NM_003907.2(EIF2B5):c.1686G>A (p.Gln562=) http://identifiers.org/clinvar/259884 ^@ NM_005787.5(ALG3):c.*50T>G http://identifiers.org/clinvar/259885 ^@ NM_005787.5(ALG3):c.727-50T>C http://identifiers.org/clinvar/256211 ^@ NM_000460.3(THPO):c.1030A>G (p.Thr344Ala) http://identifiers.org/clinvar/256212 ^@ NM_000460.3(THPO):c.229-17_229-14dupTTCC http://identifiers.org/clinvar/259131 ^@ NM_003722.4(TP63):c.191+24T>C http://identifiers.org/clinvar/259132 ^@ NM_003722.4(TP63):c.766+34T>G http://identifiers.org/clinvar/259133 ^@ NM_003722.4(TP63):c.766+42G>A http://identifiers.org/clinvar/259134 ^@ NM_003722.4(TP63):c.859C>T (p.Leu287=) http://identifiers.org/clinvar/259135 ^@ NM_003722.4(TP63):c.876A>G (p.Pro292=) http://identifiers.org/clinvar/259124 ^@ NM_003722.4(TP63):c.1130-22A>G http://identifiers.org/clinvar/259125 ^@ NM_003722.4(TP63):c.1349+40G>C http://identifiers.org/clinvar/259126 ^@ NM_003722.4(TP63):c.1349+41G>A http://identifiers.org/clinvar/259128 ^@ NM_003722.4(TP63):c.1350-34T>G http://identifiers.org/clinvar/259127 ^@ NM_003722.4(TP63):c.1350-23T>C http://identifiers.org/clinvar/259129 ^@ NM_003722.4(TP63):c.1587C>T (p.Leu529=) http://identifiers.org/clinvar/259130 ^@ NM_003722.4(TP63):c.1652+46G>A http://identifiers.org/clinvar/259123 ^@ NM_003722.4(TP63):c.*45C>T http://identifiers.org/clinvar/261404 ^@ NM_021101.4(CLDN1):c.370G>A (p.Ala124Thr) http://identifiers.org/clinvar/261402 ^@ NM_021101.4(CLDN1):c.108C>T (p.Ala36=) http://identifiers.org/clinvar/261403 ^@ NM_021101.4(CLDN1):c.15G>A (p.Gly5=) http://identifiers.org/clinvar/261401 ^@ NM_021101.4(CLDN1):c.-13G>C http://identifiers.org/clinvar/260004 ^@ NM_006580.3(CLDN16):c.324+10T>C http://identifiers.org/clinvar/262931 ^@ NM_178335.2(CCDC50):c.49+20A>G http://identifiers.org/clinvar/262930 ^@ NM_178335.2(CCDC50):c.1137+19C>G http://identifiers.org/clinvar/262316 ^@ NM_130837.2(OPA1):c.2441-4dupC http://identifiers.org/clinvar/259879 ^@ NM_005781.4(TNK2):c.3113G>A (p.Arg1038His) http://identifiers.org/clinvar/259878 ^@ NM_005781.4(TNK2):c.2668G>A (p.Val890Met) http://identifiers.org/clinvar/259877 ^@ NM_005781.4(TNK2):c.2319T>C (p.Ala773=) http://identifiers.org/clinvar/259876 ^@ NM_005781.4(TNK2):c.2174C>T (p.Pro725Leu) http://identifiers.org/clinvar/259875 ^@ NM_005781.4(TNK2):c.2163G>A (p.Pro721=) http://identifiers.org/clinvar/259874 ^@ NM_005781.4(TNK2):c.2095A>G (p.Ser699Gly) http://identifiers.org/clinvar/259873 ^@ NM_005781.4(TNK2):c.2070G>A (p.Pro690=) http://identifiers.org/clinvar/259872 ^@ NM_005781.4(TNK2):c.1719C>T (p.Phe573=) http://identifiers.org/clinvar/259871 ^@ NM_005781.4(TNK2):c.1029C>T (p.Ile343=) http://identifiers.org/clinvar/259883 ^@ NM_005781.4(TNK2):c.915C>T (p.Arg305=) http://identifiers.org/clinvar/259881 ^@ NM_005781.4(TNK2):c.843C>T (p.Asp281=) http://identifiers.org/clinvar/259880 ^@ NM_005781.4(TNK2):c.351C>T (p.Leu117=) http://identifiers.org/clinvar/259882 ^@ NM_005781.4(TNK2):c.84T>C (p.Asp28=) http://identifiers.org/clinvar/257670 ^@ NM_001252634.1(THRB):c.1251T>C (p.Phe417=) http://identifiers.org/clinvar/257669 ^@ NM_001252634.1(THRB):c.1144+9G>A http://identifiers.org/clinvar/259012 ^@ NM_003242.5(TGFBR2):c.264-35T>G http://identifiers.org/clinvar/259010 ^@ NM_003242.5(TGFBR2):c.1014G>A (p.Thr338=) http://identifiers.org/clinvar/259011 ^@ NM_003242.5(TGFBR2):c.1254+8A>G http://identifiers.org/clinvar/259009 ^@ NM_003242.5(TGFBR2):c.*11G>A http://identifiers.org/clinvar/260571 ^@ NM_015141.3(GPD1L):c.408C>T (p.Asp136=) http://identifiers.org/clinvar/256024 ^@ NM_000404.3(GLB1):c.1561C>T (p.Arg521Cys) http://identifiers.org/clinvar/256028 ^@ NM_000404.3(GLB1):c.915G>T (p.Leu305Phe) http://identifiers.org/clinvar/256027 ^@ NM_000404.3(GLB1):c.858C>T (p.Thr286=) http://identifiers.org/clinvar/256026 ^@ NM_000404.3(GLB1):c.756C>T (p.Phe252=) http://identifiers.org/clinvar/256025 ^@ NM_000404.3(GLB1):c.733+42T>A http://identifiers.org/clinvar/259968 ^@ NM_006371.4(CRTAP):c.1032T>G (p.Thr344=) http://identifiers.org/clinvar/259969 ^@ NM_006371.4(CRTAP):c.1044G>A (p.Ser348=) http://identifiers.org/clinvar/255620 ^@ NM_000249.3(MLH1):c.2121C>T (p.Ser707=) http://identifiers.org/clinvar/257468 ^@ NM_001106.3(ACVR2B):c.333A>G (p.Glu111=) http://identifiers.org/clinvar/257470 ^@ NM_001106.3(ACVR2B):c.811-13T>C http://identifiers.org/clinvar/257469 ^@ NM_001106.3(ACVR2B):c.811-12G>A http://identifiers.org/clinvar/257471 ^@ NM_001106.3(ACVR2B):c.960-19T>C http://identifiers.org/clinvar/257467 ^@ NM_001106.3(ACVR2B):c.1458C>T (p.Asn486=) http://identifiers.org/clinvar/257441 ^@ NM_001099404.1(SCN5A):c.3954G>A (p.Glu1318=) http://identifiers.org/clinvar/257439 ^@ NM_001099404.1(SCN5A):c.2263-18T>C http://identifiers.org/clinvar/257438 ^@ NM_001099404.1(SCN5A):c.1890+50C>T http://identifiers.org/clinvar/257437 ^@ NM_001099404.1(SCN5A):c.1339-24G>A http://identifiers.org/clinvar/257440 ^@ NM_001099404.1(SCN5A):c.392+34C>A http://identifiers.org/clinvar/259999 ^@ NM_006514.3(SCN10A):c.5137G= (p.Val1713=) http://identifiers.org/clinvar/259998 ^@ NM_006514.3(SCN10A):c.3393C>G (p.Thr1131=) http://identifiers.org/clinvar/259997 ^@ NM_006514.3(SCN10A):c.3275T>C (p.Leu1092Pro) http://identifiers.org/clinvar/259996 ^@ NM_006514.3(SCN10A):c.3218T>C (p.Val1073Ala) http://identifiers.org/clinvar/259995 ^@ NM_006514.3(SCN10A):c.3192G>A (p.Thr1064=) http://identifiers.org/clinvar/259994 ^@ NM_006514.3(SCN10A):c.2937C>T (p.Gly979=) http://identifiers.org/clinvar/259993 ^@ NM_006514.3(SCN10A):c.1868-9A>G http://identifiers.org/clinvar/259992 ^@ NM_006514.3(SCN10A):c.1476C>T (p.Leu492=) http://identifiers.org/clinvar/259991 ^@ NM_006514.3(SCN10A):c.1284G>A (p.Glu428=) http://identifiers.org/clinvar/260000 ^@ NM_006514.3(SCN10A):c.884-13T>C http://identifiers.org/clinvar/260336 ^@ NM_014139.2(SCN11A):c.2950-19G>C http://identifiers.org/clinvar/260335 ^@ NM_014139.2(SCN11A):c.2725G>A (p.Val909Ile) http://identifiers.org/clinvar/260334 ^@ NM_014139.2(SCN11A):c.1638T>C (p.Cys546=) http://identifiers.org/clinvar/262644 ^@ NM_152393.3(KLHL40):c.324A>G (p.Ala108=) http://identifiers.org/clinvar/262645 ^@ NM_152393.3(KLHL40):c.648G>T (p.Ala216=) http://identifiers.org/clinvar/262646 ^@ NM_152393.3(KLHL40):c.872A>C (p.Lys291Thr) http://identifiers.org/clinvar/262639 ^@ NM_152393.3(KLHL40):c.1053C>T (p.His351=) http://identifiers.org/clinvar/262640 ^@ NM_152393.3(KLHL40):c.1104C>T (p.Phe368=) http://identifiers.org/clinvar/262641 ^@ NM_152393.3(KLHL40):c.1540G>A (p.Val514Met) http://identifiers.org/clinvar/262642 ^@ NM_152393.3(KLHL40):c.1738C>A (p.Leu580Ile) http://identifiers.org/clinvar/262643 ^@ NM_152393.3(KLHL40):c.1768_1770delGAG (p.Glu590del) http://identifiers.org/clinvar/262106 ^@ NM_032806.5(POMGNT2):c.1602C>T (p.Tyr534=) http://identifiers.org/clinvar/262105 ^@ NM_032806.5(POMGNT2):c.1488C>T (p.Gly496=) http://identifiers.org/clinvar/262104 ^@ NM_032806.5(POMGNT2):c.1365G>A (p.Pro455=) http://identifiers.org/clinvar/262103 ^@ NM_032806.5(POMGNT2):c.1233G>A (p.Gln411=) http://identifiers.org/clinvar/262109 ^@ NM_032806.5(POMGNT2):c.966C>G (p.Ser322=) http://identifiers.org/clinvar/262108 ^@ NM_032806.5(POMGNT2):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/262107 ^@ NM_032806.5(POMGNT2):c.561C>T (p.His187=) http://identifiers.org/clinvar/262102 ^@ NM_032806.5(POMGNT2):c.-43C>T http://identifiers.org/clinvar/260993 ^@ NM_018075.4(ANO10):c.1293+9A>G http://identifiers.org/clinvar/263010 ^@ NM_182760.3(SUMF1):c.841-14G>A http://identifiers.org/clinvar/263011 ^@ NM_182760.3(SUMF1):c.841-15T>G http://identifiers.org/clinvar/263009 ^@ NM_182760.3(SUMF1):c.602+50G>A http://identifiers.org/clinvar/263008 ^@ NM_182760.3(SUMF1):c.520-48A>G http://identifiers.org/clinvar/263006 ^@ NM_182760.3(SUMF1):c.445-16C>T http://identifiers.org/clinvar/263007 ^@ NM_182760.3(SUMF1):c.445-22T>C http://identifiers.org/clinvar/263005 ^@ NM_182760.3(SUMF1):c.444+27A>G http://identifiers.org/clinvar/263004 ^@ NM_182760.3(SUMF1):c.188G>A (p.Ser63Asn) http://identifiers.org/clinvar/261735 ^@ NM_024513.3(FYCO1):c.4086G>A (p.Glu1362=) http://identifiers.org/clinvar/261734 ^@ NM_024513.3(FYCO1):c.3924C>T (p.Leu1308=) http://identifiers.org/clinvar/261733 ^@ NM_024513.3(FYCO1):c.3705C>A (p.Gly1235=) http://identifiers.org/clinvar/261732 ^@ NM_024513.3(FYCO1):c.3587+15C>T http://identifiers.org/clinvar/261731 ^@ NM_024513.3(FYCO1):c.3419G>A (p.Arg1140Gln) http://identifiers.org/clinvar/261730 ^@ NM_024513.3(FYCO1):c.3330C>T (p.Cys1110=) http://identifiers.org/clinvar/261729 ^@ NM_024513.3(FYCO1):c.3003C>A (p.Asn1001Lys) http://identifiers.org/clinvar/261727 ^@ NM_024513.3(FYCO1):c.3001_3003delAACinsGAA (p.Asn1001Glu) http://identifiers.org/clinvar/261728 ^@ NM_024513.3(FYCO1):c.3001A>G (p.Asn1001Asp) http://identifiers.org/clinvar/261726 ^@ NM_024513.3(FYCO1):c.2980G>A (p.Glu994Lys) http://identifiers.org/clinvar/261724 ^@ NM_024513.3(FYCO1):c.2739C>T (p.Cys913=) http://identifiers.org/clinvar/261722 ^@ NM_024513.3(FYCO1):c.2036C>T (p.Ala679Val) http://identifiers.org/clinvar/261721 ^@ NM_024513.3(FYCO1):c.1843C>T (p.Arg615Trp) http://identifiers.org/clinvar/261720 ^@ NM_024513.3(FYCO1):c.1339C>T (p.Arg447Cys) http://identifiers.org/clinvar/261719 ^@ NM_024513.3(FYCO1):c.1335G>A (p.Leu445=) http://identifiers.org/clinvar/261718 ^@ NM_024513.3(FYCO1):c.1206G>A (p.Glu402=) http://identifiers.org/clinvar/261738 ^@ NM_024513.3(FYCO1):c.962G>C (p.Gly321Ala) http://identifiers.org/clinvar/261737 ^@ NM_024513.3(FYCO1):c.819A>G (p.Gln273=) http://identifiers.org/clinvar/261736 ^@ NM_024513.3(FYCO1):c.749G>A (p.Arg250Gln) http://identifiers.org/clinvar/261725 ^@ NM_024513.3(FYCO1):c.289-14T>A http://identifiers.org/clinvar/261723 ^@ NM_024513.3(FYCO1):c.267C>A (p.Arg89=) http://identifiers.org/clinvar/262622 ^@ NM_147196.2(TMIE):c.388_393delAAGAAG (p.Lys130_Lys131del) http://identifiers.org/clinvar/255638 ^@ NM_000258.2(MYL3):c.307+37A>C http://identifiers.org/clinvar/255637 ^@ NM_000258.2(MYL3):c.129+44G>T http://identifiers.org/clinvar/260575 ^@ NM_015175.2(NBEAL2):c.1033-28C>T http://identifiers.org/clinvar/260576 ^@ NM_015175.2(NBEAL2):c.1198-45C>T http://identifiers.org/clinvar/260577 ^@ NM_015175.2(NBEAL2):c.1340G>A (p.Arg447His) http://identifiers.org/clinvar/260578 ^@ NM_015175.2(NBEAL2):c.1353G>A (p.Pro451=) http://identifiers.org/clinvar/260579 ^@ NM_015175.2(NBEAL2):c.1531C>G (p.Arg511Gly) http://identifiers.org/clinvar/260580 ^@ NM_015175.2(NBEAL2):c.4704C>T (p.Asn1568=) http://identifiers.org/clinvar/260581 ^@ NM_015175.2(NBEAL2):c.4783-24C>T http://identifiers.org/clinvar/260582 ^@ NM_015175.2(NBEAL2):c.4911C>T (p.Ser1637=) http://identifiers.org/clinvar/260583 ^@ NM_015175.2(NBEAL2):c.4995G>A (p.Val1665=) http://identifiers.org/clinvar/260584 ^@ NM_015175.2(NBEAL2):c.5302-13A>T http://identifiers.org/clinvar/260585 ^@ NM_015175.2(NBEAL2):c.5661A>C (p.Pro1887=) http://identifiers.org/clinvar/260586 ^@ NM_015175.2(NBEAL2):c.6054C>G (p.Pro2018=) http://identifiers.org/clinvar/260587 ^@ NM_015175.2(NBEAL2):c.6161C>T (p.Ser2054Phe) http://identifiers.org/clinvar/260588 ^@ NM_015175.2(NBEAL2):c.6560+31G>C http://identifiers.org/clinvar/260589 ^@ NM_015175.2(NBEAL2):c.6692-47dupG http://identifiers.org/clinvar/260590 ^@ NM_015175.2(NBEAL2):c.6801+21A>C http://identifiers.org/clinvar/260591 ^@ NM_015175.2(NBEAL2):c.6919+9T>C http://identifiers.org/clinvar/260592 ^@ NM_015175.2(NBEAL2):c.7507+6A>G http://identifiers.org/clinvar/262243 ^@ NM_033629.4(TREX1):c.912G>A (p.Leu304=) http://identifiers.org/clinvar/255115 ^@ NM_000094.3(COL7A1):c.8620+18_8620+19insGCC http://identifiers.org/clinvar/255114 ^@ NM_000094.3(COL7A1):c.8305-20G>C http://identifiers.org/clinvar/255113 ^@ NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) http://identifiers.org/clinvar/255112 ^@ NM_000094.3(COL7A1):c.5388+20C>T http://identifiers.org/clinvar/255111 ^@ NM_000094.3(COL7A1):c.4818+18T>A http://identifiers.org/clinvar/255110 ^@ NM_000094.3(COL7A1):c.4483-11T>C http://identifiers.org/clinvar/255109 ^@ NM_000094.3(COL7A1):c.3830C>T (p.Pro1277Leu) http://identifiers.org/clinvar/255108 ^@ NM_000094.3(COL7A1):c.3139+12G>A http://identifiers.org/clinvar/255107 ^@ NM_000094.3(COL7A1):c.2817A>G (p.Pro939=) http://identifiers.org/clinvar/255106 ^@ NM_000094.3(COL7A1):c.2469A>C (p.Pro823=) http://identifiers.org/clinvar/255105 ^@ NM_000094.3(COL7A1):c.2314+15G>A http://identifiers.org/clinvar/255104 ^@ NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) http://identifiers.org/clinvar/255103 ^@ NM_000094.3(COL7A1):c.1784C>T (p.Pro595Leu) http://identifiers.org/clinvar/255116 ^@ NM_000094.3(COL7A1):c.933C>T (p.Tyr311=) http://identifiers.org/clinvar/258615 ^@ NM_002292.3(LAMB2):c.5293G>A (p.Ala1765Thr) http://identifiers.org/clinvar/258614 ^@ NM_002292.3(LAMB2):c.4923+17A>G http://identifiers.org/clinvar/258613 ^@ NM_002292.3(LAMB2):c.4878G>A (p.Arg1626=) http://identifiers.org/clinvar/258612 ^@ NM_002292.3(LAMB2):c.4774C>T (p.Arg1592Trp) http://identifiers.org/clinvar/258611 ^@ NM_002292.3(LAMB2):c.4224+19G>A http://identifiers.org/clinvar/258610 ^@ NM_002292.3(LAMB2):c.4034G>A (p.Arg1345His) http://identifiers.org/clinvar/258609 ^@ NM_002292.3(LAMB2):c.3732C>T (p.Ile1244=) http://identifiers.org/clinvar/258608 ^@ NM_002292.3(LAMB2):c.3387A>G (p.Gln1129=) http://identifiers.org/clinvar/258606 ^@ NM_002292.3(LAMB2):c.2959G>A (p.Glu987Lys) http://identifiers.org/clinvar/258605 ^@ NM_002292.3(LAMB2):c.2740G>A (p.Gly914Arg) http://identifiers.org/clinvar/258604 ^@ NM_002292.3(LAMB2):c.2673C>T (p.Gly891=) http://identifiers.org/clinvar/258603 ^@ NM_002292.3(LAMB2):c.2307C>T (p.Leu769=) http://identifiers.org/clinvar/258602 ^@ NM_002292.3(LAMB2):c.2152C>T (p.Leu718=) http://identifiers.org/clinvar/258601 ^@ NM_002292.3(LAMB2):c.1891-11C>T http://identifiers.org/clinvar/258600 ^@ NM_002292.3(LAMB2):c.1764C>T (p.Pro588=) http://identifiers.org/clinvar/258599 ^@ NM_002292.3(LAMB2):c.1724G>A (p.Arg575Gln) http://identifiers.org/clinvar/258598 ^@ NM_002292.3(LAMB2):c.1572C>T (p.Cys524=) http://identifiers.org/clinvar/258597 ^@ NM_002292.3(LAMB2):c.1291C>T (p.Leu431=) http://identifiers.org/clinvar/258596 ^@ NM_002292.3(LAMB2):c.1206G>A (p.Arg402=) http://identifiers.org/clinvar/258595 ^@ NM_002292.3(LAMB2):c.1193C>T (p.Thr398Ile) http://identifiers.org/clinvar/258607 ^@ NM_002292.3(LAMB2):c.306C>T (p.Asn102=) http://identifiers.org/clinvar/256240 ^@ NM_000481.3(AMT):c.954G>A (p.Arg318=) http://identifiers.org/clinvar/256239 ^@ NM_000481.3(AMT):c.354G>A (p.Leu118=) http://identifiers.org/clinvar/257588 ^@ NM_001165928.3(DAG1):c.384G>T (p.Val128=) http://identifiers.org/clinvar/257585 ^@ NM_001165928.3(DAG1):c.1308G>A (p.Thr436=) http://identifiers.org/clinvar/257586 ^@ NM_001165928.3(DAG1):c.1701C>T (p.Ser567=) http://identifiers.org/clinvar/257587 ^@ NM_001165928.3(DAG1):c.2036G>A (p.Arg679His) http://identifiers.org/clinvar/260287 ^@ NM_013334.3(GMPPB):c.728G>A (p.Arg243Gln) http://identifiers.org/clinvar/260286 ^@ NM_013334.3(GMPPB):c.640+11G>A http://identifiers.org/clinvar/260285 ^@ NM_013334.3(GMPPB):c.376C>G (p.His126Asp) http://identifiers.org/clinvar/260284 ^@ NM_013334.3(GMPPB):c.330C>T (p.Asp110=) http://identifiers.org/clinvar/260283 ^@ NM_013334.3(GMPPB):c.211-15delG http://identifiers.org/clinvar/260282 ^@ NM_013334.3(GMPPB):c.204G>A (p.Glu68=) http://identifiers.org/clinvar/256754 ^@ NM_000666.2(ACY1):c.437-20C>T http://identifiers.org/clinvar/256755 ^@ NM_000666.2(ACY1):c.527-17C>A http://identifiers.org/clinvar/256756 ^@ NM_000666.2(ACY1):c.657+15A>G http://identifiers.org/clinvar/256757 ^@ NM_000666.2(ACY1):c.708-9A>G http://identifiers.org/clinvar/259517 ^@ NM_004656.3(BAP1):c.294C>T (p.Ser98=) http://identifiers.org/clinvar/260135 ^@ NM_007159.4(SLMAP):c.828+11C>A http://identifiers.org/clinvar/260134 ^@ NM_007159.4(SLMAP):c.1198+14A>G http://identifiers.org/clinvar/258103 ^@ NM_001457.3(FLNB):c.292+8C>A http://identifiers.org/clinvar/258102 ^@ NM_001457.3(FLNB):c.292+14C>G http://identifiers.org/clinvar/258107 ^@ NM_001457.3(FLNB):c.362A>T (p.Tyr121Phe) http://identifiers.org/clinvar/258118 ^@ NM_001457.3(FLNB):c.669G>A (p.Pro223=) http://identifiers.org/clinvar/258123 ^@ NM_001457.3(FLNB):c.927T>C (p.Ser309=) http://identifiers.org/clinvar/258099 ^@ NM_001457.3(FLNB):c.1611-4G>A http://identifiers.org/clinvar/258100 ^@ NM_001457.3(FLNB):c.1869C>T (p.Asp623=) http://identifiers.org/clinvar/258101 ^@ NM_001457.3(FLNB):c.2494G>A (p.Ala832Thr) http://identifiers.org/clinvar/258104 ^@ NM_001457.3(FLNB):c.3078C>T (p.Pro1026=) http://identifiers.org/clinvar/258105 ^@ NM_001457.3(FLNB):c.3163G>A (p.Val1055Met) http://identifiers.org/clinvar/258106 ^@ NM_001457.3(FLNB):c.3469G>A (p.Asp1157Asn) http://identifiers.org/clinvar/258108 ^@ NM_001457.3(FLNB):c.3857C>T (p.Ala1286Val) http://identifiers.org/clinvar/258109 ^@ NM_001457.3(FLNB):c.4062-5T>G http://identifiers.org/clinvar/258110 ^@ NM_001457.3(FLNB):c.4173A>G (p.Ala1391=) http://identifiers.org/clinvar/258111 ^@ NM_001457.3(FLNB):c.4221C>T (p.Pro1407=) http://identifiers.org/clinvar/258112 ^@ NM_001457.3(FLNB):c.4362G>A (p.Pro1454=) http://identifiers.org/clinvar/258113 ^@ NM_001457.3(FLNB):c.4377T>C (p.Val1459=) http://identifiers.org/clinvar/258114 ^@ NM_001457.3(FLNB):c.4411G>A (p.Val1471Met) http://identifiers.org/clinvar/258115 ^@ NM_001457.3(FLNB):c.5646G>A (p.Pro1882=) http://identifiers.org/clinvar/258116 ^@ NM_001457.3(FLNB):c.6017A>G (p.Lys2006Arg) http://identifiers.org/clinvar/258117 ^@ NM_001457.3(FLNB):c.6680C>G (p.Ser2227Cys) http://identifiers.org/clinvar/258119 ^@ NM_001457.3(FLNB):c.6889-18G>A http://identifiers.org/clinvar/258120 ^@ NM_001457.3(FLNB):c.6956T>C (p.Ile2319Thr) http://identifiers.org/clinvar/258121 ^@ NM_001457.3(FLNB):c.7209G>A (p.Ser2403=) http://identifiers.org/clinvar/258122 ^@ NM_001457.3(FLNB):c.7359C>T (p.Ser2453=) http://identifiers.org/clinvar/257600 ^@ NM_001177599.1(SUCLG2):c.1273G>A (p.Val425Ile) http://identifiers.org/clinvar/257599 ^@ NM_001177599.1(SUCLG2):c.1210T>C (p.Tyr404His) http://identifiers.org/clinvar/257598 ^@ NM_001177599.1(SUCLG2):c.1141C>T (p.Arg381Trp) http://identifiers.org/clinvar/257602 ^@ NM_001177599.1(SUCLG2):c.758-10_758-8delCTT http://identifiers.org/clinvar/257601 ^@ NM_001177599.1(SUCLG2):c.302A>G (p.Lys101Arg) http://identifiers.org/clinvar/257603 ^@ NM_001177599.1(SUCLG2):c.85-20C>T http://identifiers.org/clinvar/255618 ^@ NM_000248.3(MITF):c.635-7C>A http://identifiers.org/clinvar/255619 ^@ NM_000248.3(MITF):c.858+5G>A http://identifiers.org/clinvar/255387 ^@ NM_000158.3(GBE1):c.1842T>C (p.Ile614=) http://identifiers.org/clinvar/255385 ^@ NM_000158.3(GBE1):c.1716C>T (p.Asp572=) http://identifiers.org/clinvar/255384 ^@ NM_000158.3(GBE1):c.1619-16G>A http://identifiers.org/clinvar/255383 ^@ NM_000158.3(GBE1):c.1519A>G (p.Thr507Ala) http://identifiers.org/clinvar/255393 ^@ NM_000158.3(GBE1):c.993-19T>C http://identifiers.org/clinvar/255392 ^@ NM_000158.3(GBE1):c.839G>A (p.Gly280Asp) http://identifiers.org/clinvar/255391 ^@ NM_000158.3(GBE1):c.709T>C (p.Leu237=) http://identifiers.org/clinvar/255390 ^@ NM_000158.3(GBE1):c.579G>A (p.Lys193=) http://identifiers.org/clinvar/255389 ^@ NM_000158.3(GBE1):c.429+35T>C http://identifiers.org/clinvar/255388 ^@ NM_000158.3(GBE1):c.342C>T (p.Tyr114=) http://identifiers.org/clinvar/255386 ^@ NM_000158.3(GBE1):c.176T>C (p.Ile59Thr) http://identifiers.org/clinvar/255382 ^@ NM_000158.3(GBE1):c.143+10G>T http://identifiers.org/clinvar/255381 ^@ NM_000158.3(GBE1):c.118C>A (p.Pro40Thr) http://identifiers.org/clinvar/260314 ^@ NM_014043.3(CHMP2B):c.560G>A (p.Ser187Asn) http://identifiers.org/clinvar/262222 ^@ NM_033337.2(CAV3):c.115-45C>T http://identifiers.org/clinvar/255811 ^@ NM_000313.3(PROS1):c.2001A>G (p.Pro667=) http://identifiers.org/clinvar/263013 ^@ NM_182896.2(ARL13B):c.270T>C (p.Tyr90=) http://identifiers.org/clinvar/263014 ^@ NM_182896.2(ARL13B):c.380+36G>A http://identifiers.org/clinvar/263012 ^@ NM_182896.2(ARL13B):c.1025-48G>A http://identifiers.org/clinvar/262014 ^@ NM_032146.5(ARL6):c.186-18T>C http://identifiers.org/clinvar/262015 ^@ NM_032146.5(ARL6):c.255-49A>G http://identifiers.org/clinvar/262016 ^@ NM_032146.5(ARL6):c.349+36G>A http://identifiers.org/clinvar/262017 ^@ NM_032146.5(ARL6):c.480-8C>T http://identifiers.org/clinvar/255526 ^@ NM_000203.4(IDUA):c.300-44C>T http://identifiers.org/clinvar/255527 ^@ NM_000203.4(IDUA):c.493+31C>T http://identifiers.org/clinvar/255528 ^@ NM_000203.4(IDUA):c.590-45G>C http://identifiers.org/clinvar/255529 ^@ NM_000203.4(IDUA):c.972+48A>G http://identifiers.org/clinvar/255530 ^@ NM_000203.4(IDUA):c.973-45G>C http://identifiers.org/clinvar/255522 ^@ NM_000203.4(IDUA):c.1402+36T>C http://identifiers.org/clinvar/255523 ^@ NM_000203.4(IDUA):c.1403-14G>T http://identifiers.org/clinvar/255524 ^@ NM_000203.4(IDUA):c.1524+41G>T http://identifiers.org/clinvar/255525 ^@ NM_000203.4(IDUA):c.1525-38T>C http://identifiers.org/clinvar/257611 ^@ NM_001184705.2(HADH):c.636+13G>A http://identifiers.org/clinvar/262718 ^@ NM_153427.2(PITX2):c.459T>G (p.Ser153=) http://identifiers.org/clinvar/257580 ^@ NM_001148.4(ANK2):c.5469C>T (p.Pro1823=) http://identifiers.org/clinvar/257581 ^@ NM_001148.4(ANK2):c.6168C>G (p.Leu2056=) http://identifiers.org/clinvar/257582 ^@ NM_001148.4(ANK2):c.7110A>G (p.Gln2370=) http://identifiers.org/clinvar/257583 ^@ NM_001148.4(ANK2):c.9648A>G (p.Glu3216=) http://identifiers.org/clinvar/262922 ^@ NM_176824.2(BBS7):c.1891-12C>A http://identifiers.org/clinvar/262921 ^@ NM_176824.2(BBS7):c.1890+16G>A http://identifiers.org/clinvar/262918 ^@ NM_176824.2(BBS7):c.1511+25C>A http://identifiers.org/clinvar/262923 ^@ NM_176824.2(BBS7):c.934+31_934+34delAAGA http://identifiers.org/clinvar/262924 ^@ NM_176824.2(BBS7):c.934+32A>G http://identifiers.org/clinvar/262920 ^@ NM_176824.2(BBS7):c.186C>T (p.Pro62=) http://identifiers.org/clinvar/262919 ^@ NM_176824.2(BBS7):c.166-45C>T http://identifiers.org/clinvar/262675 ^@ NM_152618.2(BBS12):c.51A>G (p.Gln17=) http://identifiers.org/clinvar/262674 ^@ NM_152618.2(BBS12):c.378G>T (p.Glu126Asp) http://identifiers.org/clinvar/262668 ^@ NM_152618.2(BBS12):c.1062G>C (p.Val354=) http://identifiers.org/clinvar/262669 ^@ NM_152618.2(BBS12):c.1200G>A (p.Val400=) http://identifiers.org/clinvar/262670 ^@ NM_152618.2(BBS12):c.1209G>A (p.Val403=) http://identifiers.org/clinvar/262671 ^@ NM_152618.2(BBS12):c.1287T>C (p.Ser429=) http://identifiers.org/clinvar/262672 ^@ NM_152618.2(BBS12):c.1398C>T (p.Gly466=) http://identifiers.org/clinvar/262673 ^@ NM_152618.2(BBS12):c.1451G>A (p.Arg484Lys) http://identifiers.org/clinvar/262667 ^@ NM_152618.2(BBS12):c.*38A>G http://identifiers.org/clinvar/262806 ^@ NM_172250.2(MMAA):c.138T>C (p.Ser46=) http://identifiers.org/clinvar/256831 ^@ NM_000901.4(NR3C2):c.2800-17C>G http://identifiers.org/clinvar/256830 ^@ NM_000901.4(NR3C2):c.2641+6T>C http://identifiers.org/clinvar/256829 ^@ NM_000901.4(NR3C2):c.2178G>A (p.Gln726=) http://identifiers.org/clinvar/256828 ^@ NM_000901.4(NR3C2):c.1497T>C (p.Asp499=) http://identifiers.org/clinvar/256832 ^@ NM_000901.4(NR3C2):c.538G>A (p.Val180Ile) http://identifiers.org/clinvar/256827 ^@ NM_000901.4(NR3C2):c.-2C>G http://identifiers.org/clinvar/259647 ^@ NM_005141.4(FGB):c.307-16T>C http://identifiers.org/clinvar/259648 ^@ NM_005141.4(FGB):c.567C>T (p.Ser189=) http://identifiers.org/clinvar/259649 ^@ NM_005141.4(FGB):c.843G>T (p.Val281=) http://identifiers.org/clinvar/259650 ^@ NM_005141.4(FGB):c.959-13_959-10delGTTT http://identifiers.org/clinvar/259645 ^@ NM_005141.4(FGB):c.1125C>T (p.Tyr375=) http://identifiers.org/clinvar/259646 ^@ NM_005141.4(FGB):c.1239C>T (p.Asp413=) http://identifiers.org/clinvar/256327 ^@ NM_000508.4(FGA):c.*7_*34dup28 http://identifiers.org/clinvar/256329 ^@ NM_000508.4(FGA):c.2586C>T (p.Pro862=) http://identifiers.org/clinvar/256328 ^@ NM_000508.4(FGA):c.-14C>T http://identifiers.org/clinvar/257388 ^@ NM_001080522.2(CC2D2A):c.336+32T>C http://identifiers.org/clinvar/257393 ^@ NM_001080522.2(CC2D2A):c.717+11T>C http://identifiers.org/clinvar/257394 ^@ NM_001080522.2(CC2D2A):c.717+12C>T http://identifiers.org/clinvar/257395 ^@ NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) http://identifiers.org/clinvar/257383 ^@ NM_001080522.2(CC2D2A):c.1017+7G>A http://identifiers.org/clinvar/257384 ^@ NM_001080522.2(CC2D2A):c.1150-15T>C http://identifiers.org/clinvar/257385 ^@ NM_001080522.2(CC2D2A):c.1360-29C>G http://identifiers.org/clinvar/257386 ^@ NM_001080522.2(CC2D2A):c.2083A>C (p.Arg695=) http://identifiers.org/clinvar/257387 ^@ NM_001080522.2(CC2D2A):c.2595C>T (p.Pro865=) http://identifiers.org/clinvar/257389 ^@ NM_001080522.2(CC2D2A):c.3594+8T>C http://identifiers.org/clinvar/257390 ^@ NM_001080522.2(CC2D2A):c.4554G>C (p.Arg1518=) http://identifiers.org/clinvar/257391 ^@ NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) http://identifiers.org/clinvar/257392 ^@ NM_001080522.2(CC2D2A):c.4675-14T>A http://identifiers.org/clinvar/257381 ^@ NM_001080522.2(CC2D2A):c.*1T>A http://identifiers.org/clinvar/257382 ^@ NM_001080522.2(CC2D2A):c.*21G>C http://identifiers.org/clinvar/259905 ^@ NM_006017.2(PROM1):c.1983+14G>A http://identifiers.org/clinvar/259903 ^@ NM_006017.2(PROM1):c.1454+19_1454+20delCT http://identifiers.org/clinvar/259907 ^@ NM_006017.2(PROM1):c.786G>A (p.Ala262=) http://identifiers.org/clinvar/259906 ^@ NM_006017.2(PROM1):c.303+6G>A http://identifiers.org/clinvar/259902 ^@ NM_006017.2(PROM1):c.129C>T (p.Thr43=) http://identifiers.org/clinvar/259904 ^@ NM_006017.2(PROM1):c.15C>T (p.Leu5=) http://identifiers.org/clinvar/255819 ^@ NM_000320.2(QDPR):c.396G>A (p.Leu132=) http://identifiers.org/clinvar/254724 ^@ NM_000027.3(AGA):c.303A>T (p.Ala101=) http://identifiers.org/clinvar/255340 ^@ NM_000142.4(FGFR3):c.417C>T (p.Asp139=) http://identifiers.org/clinvar/255341 ^@ NM_000142.4(FGFR3):c.445+3A>G http://identifiers.org/clinvar/255343 ^@ NM_000142.4(FGFR3):c.616-40T>C http://identifiers.org/clinvar/255342 ^@ NM_000142.4(FGFR3):c.616-14G>T http://identifiers.org/clinvar/255344 ^@ NM_000142.4(FGFR3):c.616-6G>A http://identifiers.org/clinvar/255345 ^@ NM_000142.4(FGFR3):c.740-9C>T http://identifiers.org/clinvar/255346 ^@ NM_000142.4(FGFR3):c.882T>C (p.Asn294=) http://identifiers.org/clinvar/255347 ^@ NM_000142.4(FGFR3):c.894G>T (p.Val298=) http://identifiers.org/clinvar/255321 ^@ NM_000142.4(FGFR3):c.1014C>T (p.Thr338=) http://identifiers.org/clinvar/255323 ^@ NM_000142.4(FGFR3):c.1075+5C>T http://identifiers.org/clinvar/255322 ^@ NM_000142.4(FGFR3):c.1075+30G>C http://identifiers.org/clinvar/255325 ^@ NM_000142.4(FGFR3):c.1076-16G>A http://identifiers.org/clinvar/255324 ^@ NM_000142.4(FGFR3):c.1076-13C>T http://identifiers.org/clinvar/255326 ^@ NM_000142.4(FGFR3):c.1223C>T (p.Ser408Phe) http://identifiers.org/clinvar/255327 ^@ NM_000142.4(FGFR3):c.1227C>T (p.Pro409=) http://identifiers.org/clinvar/255328 ^@ NM_000142.4(FGFR3):c.1267-32C>T http://identifiers.org/clinvar/255329 ^@ NM_000142.4(FGFR3):c.1290C>T (p.Ser430=) http://identifiers.org/clinvar/255330 ^@ NM_000142.4(FGFR3):c.1332C>T (p.Ser444=) http://identifiers.org/clinvar/255331 ^@ NM_000142.4(FGFR3):c.1534+15G>T http://identifiers.org/clinvar/255332 ^@ NM_000142.4(FGFR3):c.1535-14C>T http://identifiers.org/clinvar/255333 ^@ NM_000142.4(FGFR3):c.1535-8G>T http://identifiers.org/clinvar/255334 ^@ NM_000142.4(FGFR3):c.1647G>T (p.Gly549=) http://identifiers.org/clinvar/255336 ^@ NM_000142.4(FGFR3):c.1959+8C>T http://identifiers.org/clinvar/255335 ^@ NM_000142.4(FGFR3):c.1959+22G>A http://identifiers.org/clinvar/255337 ^@ NM_000142.4(FGFR3):c.2168+12C>T http://identifiers.org/clinvar/255338 ^@ NM_000142.4(FGFR3):c.2205C>G (p.Pro735=) http://identifiers.org/clinvar/255339 ^@ NM_000142.4(FGFR3):c.2274+50C>T http://identifiers.org/clinvar/257356 ^@ NM_001080477.3(TENM3):c.777T>G (p.Gly259=) http://identifiers.org/clinvar/257347 ^@ NM_001080477.3(TENM3):c.1791T>C (p.Ser597=) http://identifiers.org/clinvar/257348 ^@ NM_001080477.3(TENM3):c.2369-18G>A http://identifiers.org/clinvar/257349 ^@ NM_001080477.3(TENM3):c.2850C= (p.Asp950=) http://identifiers.org/clinvar/257350 ^@ NM_001080477.3(TENM3):c.3579T>C (p.Tyr1193=) http://identifiers.org/clinvar/257351 ^@ NM_001080477.3(TENM3):c.3768C>T (p.Val1256=) http://identifiers.org/clinvar/257352 ^@ NM_001080477.3(TENM3):c.3863-6A>C http://identifiers.org/clinvar/257353 ^@ NM_001080477.3(TENM3):c.3957C>T (p.Gly1319=) http://identifiers.org/clinvar/257354 ^@ NM_001080477.3(TENM3):c.5913T>C (p.Asp1971=) http://identifiers.org/clinvar/257355 ^@ NM_001080477.3(TENM3):c.7446C>T (p.Gly2482=) http://identifiers.org/clinvar/261440 ^@ NM_021942.5(TRAPPC11):c.-6G>A http://identifiers.org/clinvar/261441 ^@ NM_021942.5(TRAPPC11):c.117C>G (p.Ala39=) http://identifiers.org/clinvar/261442 ^@ NM_021942.5(TRAPPC11):c.145G>C (p.Val49Leu) http://identifiers.org/clinvar/261444 ^@ NM_021942.5(TRAPPC11):c.204+17G>A http://identifiers.org/clinvar/261445 ^@ NM_021942.5(TRAPPC11):c.219G>C (p.Glu73Asp) http://identifiers.org/clinvar/261452 ^@ NM_021942.5(TRAPPC11):c.282A>C (p.Pro94=) http://identifiers.org/clinvar/261454 ^@ NM_021942.5(TRAPPC11):c.661-3delT http://identifiers.org/clinvar/261455 ^@ NM_021942.5(TRAPPC11):c.897C>A (p.Ile299=) http://identifiers.org/clinvar/261456 ^@ NM_021942.5(TRAPPC11):c.927A>G (p.Ala309=) http://identifiers.org/clinvar/261443 ^@ NM_021942.5(TRAPPC11):c.1978G>C (p.Val660Leu) http://identifiers.org/clinvar/261446 ^@ NM_021942.5(TRAPPC11):c.2370C>T (p.Thr790=) http://identifiers.org/clinvar/261447 ^@ NM_021942.5(TRAPPC11):c.2388A>C (p.Gly796=) http://identifiers.org/clinvar/261448 ^@ NM_021942.5(TRAPPC11):c.2434A>C (p.Thr812Pro) http://identifiers.org/clinvar/261449 ^@ NM_021942.5(TRAPPC11):c.2461G>A (p.Ala821Thr) http://identifiers.org/clinvar/261450 ^@ NM_021942.5(TRAPPC11):c.2483T>C (p.Val828Ala) http://identifiers.org/clinvar/261451 ^@ NM_021942.5(TRAPPC11):c.2799G>C (p.Gln933His) http://identifiers.org/clinvar/261453 ^@ NM_021942.5(TRAPPC11):c.3019G>A (p.Val1007Met) http://identifiers.org/clinvar/261439 ^@ NM_021942.5(TRAPPC11):c.*10C>T http://identifiers.org/clinvar/263297 ^@ NM_207352.3(CYP4V2):c.775C>A (p.Gln259Lys) http://identifiers.org/clinvar/263298 ^@ NM_207352.3(CYP4V2):c.823G>A (p.Glu275Lys) http://identifiers.org/clinvar/255180 ^@ NM_000128.3(F11):c.429C>T (p.Asp143=) http://identifiers.org/clinvar/255181 ^@ NM_000128.3(F11):c.801A>G (p.Thr267=) http://identifiers.org/clinvar/255176 ^@ NM_000128.3(F11):c.1191T>C (p.Gly397=) http://identifiers.org/clinvar/255177 ^@ NM_000128.3(F11):c.1716+12T>C http://identifiers.org/clinvar/255178 ^@ NM_000128.3(F11):c.1812G>T (p.Arg604=) http://identifiers.org/clinvar/255179 ^@ NM_000128.3(F11):c.1839G>A (p.Glu613=) http://identifiers.org/clinvar/258893 ^@ NM_003023.4(SH3BP2):c.123G>T (p.Leu41=) http://identifiers.org/clinvar/258894 ^@ NM_003023.4(SH3BP2):c.300T>C (p.His100=) http://identifiers.org/clinvar/258895 ^@ NM_003023.4(SH3BP2):c.357+15G>T http://identifiers.org/clinvar/258896 ^@ NM_003023.4(SH3BP2):c.417C>G (p.Pro139=) http://identifiers.org/clinvar/258897 ^@ NM_003023.4(SH3BP2):c.586+8G>A http://identifiers.org/clinvar/258898 ^@ NM_003023.4(SH3BP2):c.750T>G (p.Ala250=) http://identifiers.org/clinvar/262861 ^@ NM_173660.4(DOK7):c.-30G>T http://identifiers.org/clinvar/262880 ^@ NM_173660.4(DOK7):c.54+26G>T http://identifiers.org/clinvar/262881 ^@ NM_173660.4(DOK7):c.54+29G>T http://identifiers.org/clinvar/262883 ^@ NM_173660.4(DOK7):c.55-13C>G http://identifiers.org/clinvar/262862 ^@ NM_173660.4(DOK7):c.100+36delG http://identifiers.org/clinvar/262864 ^@ NM_173660.4(DOK7):c.101-26G>A http://identifiers.org/clinvar/262865 ^@ NM_173660.4(DOK7):c.101-26G>C http://identifiers.org/clinvar/262863 ^@ NM_173660.4(DOK7):c.101-11G>A http://identifiers.org/clinvar/262869 ^@ NM_173660.4(DOK7):c.189C>T (p.Cys63=) http://identifiers.org/clinvar/262870 ^@ NM_173660.4(DOK7):c.282C>T (p.His94=) http://identifiers.org/clinvar/262871 ^@ NM_173660.4(DOK7):c.296C>T (p.Ala99Val) http://identifiers.org/clinvar/262872 ^@ NM_173660.4(DOK7):c.331+22C>T http://identifiers.org/clinvar/262873 ^@ NM_173660.4(DOK7):c.331+27G>A http://identifiers.org/clinvar/262874 ^@ NM_173660.4(DOK7):c.331+43G>T http://identifiers.org/clinvar/262876 ^@ NM_173660.4(DOK7):c.332-49C>T http://identifiers.org/clinvar/262875 ^@ NM_173660.4(DOK7):c.332-18T>C http://identifiers.org/clinvar/262877 ^@ NM_173660.4(DOK7):c.532+18G>A http://identifiers.org/clinvar/262879 ^@ NM_173660.4(DOK7):c.533-31A>G http://identifiers.org/clinvar/262878 ^@ NM_173660.4(DOK7):c.533-29A>G http://identifiers.org/clinvar/262882 ^@ NM_173660.4(DOK7):c.546C>T (p.Phe182=) http://identifiers.org/clinvar/262884 ^@ NM_173660.4(DOK7):c.652+50G>A http://identifiers.org/clinvar/262885 ^@ NM_173660.4(DOK7):c.653-19A>C http://identifiers.org/clinvar/262886 ^@ NM_173660.4(DOK7):c.653-19A>G http://identifiers.org/clinvar/262887 ^@ NM_173660.4(DOK7):c.762G>A (p.Pro254=) http://identifiers.org/clinvar/262888 ^@ NM_173660.4(DOK7):c.772+37G>A http://identifiers.org/clinvar/262889 ^@ NM_173660.4(DOK7):c.773-32delC http://identifiers.org/clinvar/262890 ^@ NM_173660.4(DOK7):c.822C>T (p.Asp274=) http://identifiers.org/clinvar/262891 ^@ NM_173660.4(DOK7):c.921C>T (p.Ala307=) http://identifiers.org/clinvar/262866 ^@ NM_173660.4(DOK7):c.1091G>A (p.Arg364Gln) http://identifiers.org/clinvar/262867 ^@ NM_173660.4(DOK7):c.1204C>T (p.Arg402Trp) http://identifiers.org/clinvar/262868 ^@ NM_173660.4(DOK7):c.1469C>T (p.Ser490Leu) http://identifiers.org/clinvar/262860 ^@ NM_173660.4(DOK7):c.*16C>T http://identifiers.org/clinvar/261855 ^@ NM_025132.3(WDR19):c.-9A>G http://identifiers.org/clinvar/261866 ^@ NM_025132.3(WDR19):c.852A>G (p.Ser284=) http://identifiers.org/clinvar/261867 ^@ NM_025132.3(WDR19):c.891C>T (p.Cys297=) http://identifiers.org/clinvar/261868 ^@ NM_025132.3(WDR19):c.910G>A (p.Val304Ile) http://identifiers.org/clinvar/261856 ^@ NM_025132.3(WDR19):c.1198C>T (p.Leu400=) http://identifiers.org/clinvar/261857 ^@ NM_025132.3(WDR19):c.1357-10T>C http://identifiers.org/clinvar/261858 ^@ NM_025132.3(WDR19):c.1581C>A (p.Thr527=) http://identifiers.org/clinvar/261859 ^@ NM_025132.3(WDR19):c.1607G>C (p.Ser536Thr) http://identifiers.org/clinvar/261860 ^@ NM_025132.3(WDR19):c.1629A>G (p.Pro543=) http://identifiers.org/clinvar/261861 ^@ NM_025132.3(WDR19):c.1915A>G (p.Ser639Gly) http://identifiers.org/clinvar/261862 ^@ NM_025132.3(WDR19):c.3183+16A>G http://identifiers.org/clinvar/261863 ^@ NM_025132.3(WDR19):c.3250G>A (p.Gly1084Ser) http://identifiers.org/clinvar/261864 ^@ NM_025132.3(WDR19):c.3261+12G>A http://identifiers.org/clinvar/261865 ^@ NM_025132.3(WDR19):c.3435C>T (p.Ser1145=) http://identifiers.org/clinvar/259203 ^@ NM_003924.3(PHOX2B):c.591C>G (p.Gly197=) http://identifiers.org/clinvar/259202 ^@ NM_003924.3(PHOX2B):c.288C>G (p.Arg96=) http://identifiers.org/clinvar/255606 ^@ NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) http://identifiers.org/clinvar/255605 ^@ NM_000232.4(SGCB):c.244-21T>C http://identifiers.org/clinvar/259954 ^@ NM_006206.4(PDGFRA):c.368-3C>T http://identifiers.org/clinvar/259955 ^@ NM_006206.4(PDGFRA):c.612T>C (p.Asn204=) http://identifiers.org/clinvar/259956 ^@ NM_006206.4(PDGFRA):c.939T>G (p.Gly313=) http://identifiers.org/clinvar/259948 ^@ NM_006206.4(PDGFRA):c.1121+28C>T http://identifiers.org/clinvar/259949 ^@ NM_006206.4(PDGFRA):c.1701A>G (p.Pro567=) http://identifiers.org/clinvar/259950 ^@ NM_006206.4(PDGFRA):c.1809G>A (p.Ala603=) http://identifiers.org/clinvar/259951 ^@ NM_006206.4(PDGFRA):c.2472C>T (p.Val824=) http://identifiers.org/clinvar/259952 ^@ NM_006206.4(PDGFRA):c.3123-38C>T http://identifiers.org/clinvar/259953 ^@ NM_006206.4(PDGFRA):c.3222T>C (p.Asp1074=) http://identifiers.org/clinvar/255567 ^@ NM_000222.2(KIT):c.-14T>A http://identifiers.org/clinvar/255568 ^@ NM_000222.2(KIT):c.1540+30G>A http://identifiers.org/clinvar/255569 ^@ NM_000222.2(KIT):c.1638A>G (p.Lys546=) http://identifiers.org/clinvar/255570 ^@ NM_000222.2(KIT):c.2142-36A>G http://identifiers.org/clinvar/255571 ^@ NM_000222.2(KIT):c.2394C>T (p.Ile798=) http://identifiers.org/clinvar/255572 ^@ NM_000222.2(KIT):c.2586G>C (p.Leu862=) http://identifiers.org/clinvar/262616 ^@ NM_147127.4(EVC2):c.3837G>A (p.Lys1279=) http://identifiers.org/clinvar/262615 ^@ NM_147127.4(EVC2):c.3023C>T (p.Ser1008Leu) http://identifiers.org/clinvar/262614 ^@ NM_147127.4(EVC2):c.2707-24A>G http://identifiers.org/clinvar/262613 ^@ NM_147127.4(EVC2):c.2501+41G>A http://identifiers.org/clinvar/262612 ^@ NM_147127.4(EVC2):c.2487G>A (p.Glu829=) http://identifiers.org/clinvar/262611 ^@ NM_147127.4(EVC2):c.2235A>G (p.Glu745=) http://identifiers.org/clinvar/262610 ^@ NM_147127.4(EVC2):c.2095A>G (p.Thr699Ala) http://identifiers.org/clinvar/262609 ^@ NM_147127.4(EVC2):c.2061T>C (p.Arg687=) http://identifiers.org/clinvar/262608 ^@ NM_147127.4(EVC2):c.2046+5A>G http://identifiers.org/clinvar/262607 ^@ NM_147127.4(EVC2):c.1886+29G>A http://identifiers.org/clinvar/262606 ^@ NM_147127.4(EVC2):c.1711-20T>G http://identifiers.org/clinvar/262605 ^@ NM_147127.4(EVC2):c.1710+14C>A http://identifiers.org/clinvar/262604 ^@ NM_147127.4(EVC2):c.1470+25G>A http://identifiers.org/clinvar/262621 ^@ NM_147127.4(EVC2):c.885C>T (p.His295=) http://identifiers.org/clinvar/262620 ^@ NM_147127.4(EVC2):c.688A>G (p.Ser230Gly) http://identifiers.org/clinvar/262619 ^@ NM_147127.4(EVC2):c.675A>G (p.Gly225=) http://identifiers.org/clinvar/262617 ^@ NM_147127.4(EVC2):c.519+15G>A http://identifiers.org/clinvar/262618 ^@ NM_147127.4(EVC2):c.52C>T (p.Leu18Phe) http://identifiers.org/clinvar/262603 ^@ NM_147127.4(EVC2):c.-15G>A http://identifiers.org/clinvar/262770 ^@ NM_153717.2(EVC):c.221A>C (p.Gln74Pro) http://identifiers.org/clinvar/262776 ^@ NM_153717.2(EVC):c.249A>G (p.Ser83=) http://identifiers.org/clinvar/262779 ^@ NM_153717.2(EVC):c.341C>T (p.Ala114Val) http://identifiers.org/clinvar/262780 ^@ NM_153717.2(EVC):c.384+41C>T http://identifiers.org/clinvar/262781 ^@ NM_153717.2(EVC):c.385-16C>T http://identifiers.org/clinvar/262782 ^@ NM_153717.2(EVC):c.802-15C>T http://identifiers.org/clinvar/279693 ^@ NM_018136.4(ASPM):c.1353dupT (p.Glu452Terfs) http://identifiers.org/clinvar/280408 ^@ NM_020699.3(GATAD2B):c.346C>T (p.Arg116Ter) http://identifiers.org/clinvar/280743 ^@ NM_000228.2(LAMB3):c.2288delG (p.Gly763Alafs) http://identifiers.org/clinvar/279829 ^@ NM_000228.2(LAMB3):c.958_1034dup77 (p.Asn345Lysfs) http://identifiers.org/clinvar/280149 ^@ NM_020699.3(GATAD2B):c.335+2T>G http://identifiers.org/clinvar/280679 ^@ NM_002016.1(FLG):c.2427G>A (p.Trp809Ter) http://identifiers.org/clinvar/280113 ^@ NM_000298.5(PKLR):c.721G>T (p.Glu241Ter) http://identifiers.org/clinvar/280718 ^@ NM_002016.1(FLG):c.2218C>T (p.Arg740Ter) http://identifiers.org/clinvar/279839 ^@ NM_170707.3(LMNA):c.718C>T (p.Arg240Trp) http://identifiers.org/clinvar/280266 ^@ NM_206933.2(USH2A):c.7950dupC (p.Asn2651Glnfs) http://identifiers.org/clinvar/279841 ^@ NM_000427.2(LOR):c.684dupG (p.Ser229Valfs) http://identifiers.org/clinvar/280466 ^@ NM_005529.6(HSPG2):c.2039_2040delCG (p.Ala680Glyfs) http://identifiers.org/clinvar/280297 ^@ NM_000975.3(RPL11):c.116dupT (p.Leu40Valfs) http://identifiers.org/clinvar/280455 ^@ NM_020066.4(FMN2):c.2363_2364delTT (p.Ile788Serfs) http://identifiers.org/clinvar/279740 ^@ NM_198053.2(CD247):c.162+6T>C http://identifiers.org/clinvar/280863 ^@ NM_001100.3(ACTA1):c.435C>A (p.Tyr145Ter) http://identifiers.org/clinvar/279840 ^@ NM_170707.3(LMNA):c.784delG (p.Glu262Serfs) http://identifiers.org/clinvar/280002 ^@ NM_153818.1(PEX10):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/280532 ^@ NM_018136.4(ASPM):c.2922T>A (p.Cys974Ter) http://identifiers.org/clinvar/279808 ^@ NM_000143.3(FH):c.1506dupA (p.Pro503Thrfs) http://identifiers.org/clinvar/280493 ^@ NM_020451.2(SELENON):c.997_1000delGTGC (p.Val333Profs) http://identifiers.org/clinvar/280929 ^@ NM_000143.3(FH):c.944_945delTG (p.Leu315Argfs) http://identifiers.org/clinvar/280775 ^@ NM_001029882.3(AHDC1):c.2693dupT (p.Ala899Glyfs) http://identifiers.org/clinvar/280377 ^@ NM_015284.3(SZT2):c.4225C>T (p.Arg1409Ter) http://identifiers.org/clinvar/280379 ^@ NM_015284.3(SZT2):c.8655-2A>G http://identifiers.org/clinvar/279741 ^@ NM_024529.4(CDC73):c.226C>T (p.Arg76Ter) http://identifiers.org/clinvar/279727 ^@ NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) http://identifiers.org/clinvar/279950 ^@ NM_024529.4(CDC73):c.355C>T (p.Gln119Ter) http://identifiers.org/clinvar/279981 ^@ NM_172362.2(KCNH1):c.1070G>A (p.Arg357Gln) http://identifiers.org/clinvar/279752 ^@ NM_030787.3(CFHR5):c.622T>C (p.Cys208Arg) http://identifiers.org/clinvar/280183 ^@ NM_016343.3(CENPF):c.8033dupT (p.Asp2679Argfs) http://identifiers.org/clinvar/279957 ^@ NM_018136.4(ASPM):c.5681_5685delTTAGA (p.Ile1894Lysfs) http://identifiers.org/clinvar/280681 ^@ NM_000081.3(LYST):c.10345C>T (p.Arg3449Ter) http://identifiers.org/clinvar/279728 ^@ NM_000069.2(CACNA1S):c.3722T>C (p.Met1241Thr) http://identifiers.org/clinvar/280344 ^@ NM_000310.3(PPT1):c.455delG (p.Cys152Serfs) http://identifiers.org/clinvar/280244 ^@ NM_006147.3(IRF6):c.265A>T (p.Lys89Ter) http://identifiers.org/clinvar/280046 ^@ NM_006516.2(SLC2A1):c.1199G>A (p.Arg400His) http://identifiers.org/clinvar/280153 ^@ NM_016343.3(CENPF):c.7219C>T (p.Arg2407Ter) http://identifiers.org/clinvar/280423 ^@ NM_006516.2(SLC2A1):c.937T>C (p.Ser313Pro) http://identifiers.org/clinvar/280452 ^@ NM_020247.4(COQ8A):c.1702G>T (p.Glu568Ter) http://identifiers.org/clinvar/280811 ^@ NM_000350.2(ABCA4):c.853C>T (p.Gln285Ter) http://identifiers.org/clinvar/280481 ^@ NM_145861.2(EDARADD):c.196C>T (p.Arg66Ter) http://identifiers.org/clinvar/280328 ^@ NM_000350.2(ABCA4):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/279807 ^@ NM_000143.3(FH):c.1475_1476delTC (p.Leu492Hisfs) http://identifiers.org/clinvar/280856 ^@ NM_014795.3(ZEB2):c.3046C>T (p.Arg1016Ter) http://identifiers.org/clinvar/280850 ^@ NM_031844.2(HNRNPU):c.520C>T (p.Gln174Ter) http://identifiers.org/clinvar/280373 ^@ NM_001271208.1(NEB):c.24156delG (p.Ile8053Phefs) http://identifiers.org/clinvar/280406 ^@ NM_020451.2(SELENON):c.9_33del25 (p.Ala4Profs) http://identifiers.org/clinvar/280832 ^@ NM_021007.2(SCN2A):c.1027G>C (p.Asp343His) http://identifiers.org/clinvar/280026 ^@ NM_020451.2(SELENON):c.872G>A (p.Arg291Gln) http://identifiers.org/clinvar/280407 ^@ NM_001029882.3(AHDC1):c.1759C>T (p.Arg587Ter) http://identifiers.org/clinvar/280366 ^@ NM_020451.2(SELENON):c.1090C>T (p.Gln364Ter) http://identifiers.org/clinvar/280372 ^@ NM_006516.2(SLC2A1):c.939dupC (p.Gly314Argfs) http://identifiers.org/clinvar/280918 ^@ NM_006015.4(ARID1A):c.2988+1G>A http://identifiers.org/clinvar/280849 ^@ NM_001165963.1(SCN1A):c.4610dupT (p.Val1538Argfs) http://identifiers.org/clinvar/280426 ^@ NM_015215.3(CAMTA1):c.4231C>T (p.Arg1411Ter) http://identifiers.org/clinvar/279972 ^@ NM_001165963.1(SCN1A):c.2415+1G>C http://identifiers.org/clinvar/280916 ^@ NM_000350.2(ABCA4):c.1100-2A>T http://identifiers.org/clinvar/280607 ^@ NM_001029882.3(AHDC1):c.2908C>T (p.Gln970Ter) http://identifiers.org/clinvar/280315 ^@ NM_145693.3(LPIN1):c.1255_1256dupGA (p.Asp419Glufs) http://identifiers.org/clinvar/280872 ^@ NM_015215.3(CAMTA1):c.882delA (p.Tyr297Thrfs) http://identifiers.org/clinvar/280482 ^@ NM_001029882.3(AHDC1):c.2691delA (p.Val898Trpfs) http://identifiers.org/clinvar/280882 ^@ NM_000642.2(AGL):c.1996_1999delCATCinsT (p.His666_Tyr1001delinsTer) http://identifiers.org/clinvar/280252 ^@ NM_014795.3(ZEB2):c.379delC (p.Gln127Argfs) http://identifiers.org/clinvar/280831 ^@ NM_001165963.1(SCN1A):c.2331delT (p.Cys777Terfs) http://identifiers.org/clinvar/280120 ^@ NM_022114.3(PRDM16):c.1573dupC (p.Arg525Profs) http://identifiers.org/clinvar/280390 ^@ NM_001165963.1(SCN1A):c.644T>A (p.Leu215Ter) http://identifiers.org/clinvar/280692 ^@ NM_001271208.1(NEB):c.11806-1G>A http://identifiers.org/clinvar/280547 ^@ NM_001165963.1(SCN1A):c.600dupT (p.Ala201Cysfs) http://identifiers.org/clinvar/280506 ^@ NM_014795.3(ZEB2):c.1451C>A (p.Ser484Ter) http://identifiers.org/clinvar/280042 ^@ NM_014795.3(ZEB2):c.1102C>T (p.Gln368Ter) http://identifiers.org/clinvar/279969 ^@ NM_005378.5(MYCN):c.73C>T (p.Gln25Ter) http://identifiers.org/clinvar/280632 ^@ NM_005378.5(MYCN):c.442delC (p.Gln148Serfs) http://identifiers.org/clinvar/279927 ^@ NM_021007.2(SCN2A):c.4777G>A (p.Gly1593Arg) http://identifiers.org/clinvar/280529 ^@ NM_022356.3(P3H1):c.1569+1G>A http://identifiers.org/clinvar/280877 ^@ NM_001165963.1(SCN1A):c.2851delG (p.Glu951Serfs) http://identifiers.org/clinvar/280387 ^@ NM_014795.3(ZEB2):c.1091_1092dupCA (p.Ala365Glnfs) http://identifiers.org/clinvar/280527 ^@ NM_001165963.1(SCN1A):c.2797C>T (p.His933Tyr) http://identifiers.org/clinvar/279999 ^@ NM_001271208.1(NEB):c.24771delT (p.Phe8257Leufs) http://identifiers.org/clinvar/280436 ^@ NM_001165963.1(SCN1A):c.1853_1854delGC (p.Arg618Glnfs) http://identifiers.org/clinvar/280476 ^@ NM_001165963.1(SCN1A):c.354G>T (p.Arg118Ser) http://identifiers.org/clinvar/280848 ^@ NM_006516.2(SLC2A1):c.1016dupT (p.Gly340Argfs) http://identifiers.org/clinvar/280205 ^@ NM_001256850.1(TTN):c.74222dupA (p.Asn24741Lysfs) http://identifiers.org/clinvar/280846 ^@ NM_001165963.1(SCN1A):c.1028+1delG http://identifiers.org/clinvar/280265 ^@ NM_001165963.1(SCN1A):c.384dupA (p.Leu129Ilefs) http://identifiers.org/clinvar/280871 ^@ NM_001271208.1(NEB):c.16620T>A (p.Tyr5540Ter) http://identifiers.org/clinvar/280781 ^@ NM_001165963.1(SCN1A):c.323dupT (p.Tyr109Valfs) http://identifiers.org/clinvar/279965 ^@ NM_001256850.1(TTN):c.96096_96097dupCA (p.Arg32033Thrfs) http://identifiers.org/clinvar/280695 ^@ NM_001165963.1(SCN1A):c.2975dupT (p.Ser993Glufs) http://identifiers.org/clinvar/279914 ^@ NM_001256850.1(TTN):c.59765dupC (p.Gln19923Serfs) http://identifiers.org/clinvar/280019 ^@ NM_001204.6(BMPR2):c.637C>T (p.Arg213Ter) http://identifiers.org/clinvar/280794 ^@ NM_001165963.1(SCN1A):c.2498dupA (p.Asn833Lysfs) http://identifiers.org/clinvar/280837 ^@ NM_001204.6(BMPR2):c.1128+1G>C http://identifiers.org/clinvar/280404 ^@ NM_025216.2(WNT10A):c.985dupC (p.Arg329Profs) http://identifiers.org/clinvar/280823 ^@ NM_001165963.1(SCN1A):c.765_766delGT (p.Phe256Leufs) http://identifiers.org/clinvar/280928 ^@ NM_017739.3(POMGNT1):c.1895C>G (p.Ser632Ter) http://identifiers.org/clinvar/280803 ^@ NM_015025.3(MYT1L):c.2117dupG (p.Ser707Glnfs) http://identifiers.org/clinvar/279846 ^@ NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) http://identifiers.org/clinvar/280709 ^@ NM_001256850.1(TTN):c.85470delT (p.Asp28491Thrfs) http://identifiers.org/clinvar/279977 ^@ NM_001271208.1(NEB):c.24219+1G>A http://identifiers.org/clinvar/280190 ^@ NM_001256850.1(TTN):c.80621T>G (p.Leu26874Ter) http://identifiers.org/clinvar/280336 ^@ NM_001165963.1(SCN1A):c.3877delG (p.Asp1293Metfs) http://identifiers.org/clinvar/280687 ^@ NM_015265.3(SATB2):c.1285C>T (p.Arg429Ter) http://identifiers.org/clinvar/280797 ^@ NM_001165963.1(SCN1A):c.1119delG (p.Leu373Phefs) http://identifiers.org/clinvar/280052 ^@ NM_001875.4(CPS1):c.2148T>A (p.Asn716Lys) http://identifiers.org/clinvar/280701 ^@ NM_015025.3(MYT1L):c.1699C>T (p.Arg567Ter) http://identifiers.org/clinvar/279698 ^@ NM_000465.3(BARD1):c.928T>G (p.Ser310Ala) http://identifiers.org/clinvar/280449 ^@ NM_015025.3(MYT1L):c.487G>T (p.Glu163Ter) http://identifiers.org/clinvar/280048 ^@ NM_000784.3(CYP27A1):c.11_20dupTGGGCTGCGC (p.Arg8Glyfs) http://identifiers.org/clinvar/280206 ^@ NM_001927.3(DES):c.1223delT (p.Leu408Argfs) http://identifiers.org/clinvar/280028 ^@ NM_004369.3(COL6A3):c.6158G>T (p.Gly2053Val) http://identifiers.org/clinvar/280341 ^@ NM_175629.2(DNMT3A):c.1608C>G (p.Tyr536Ter) http://identifiers.org/clinvar/280181 ^@ NM_004369.3(COL6A3):c.6157-2A>C http://identifiers.org/clinvar/280523 ^@ NM_005633.3(SOS1):c.3697C>A (p.Leu1233Ile) http://identifiers.org/clinvar/280694 ^@ NM_005633.3(SOS1):c.1626A>G (p.Ile542Met) http://identifiers.org/clinvar/280191 ^@ NM_001165963.1(SCN1A):c.705delC (p.Ile236Leufs) http://identifiers.org/clinvar/280492 ^@ NM_015265.3(SATB2):c.83delC (p.Pro28Glnfs) http://identifiers.org/clinvar/280382 ^@ NM_201548.4(CERKL):c.1012C>T (p.Arg338Ter) http://identifiers.org/clinvar/280759 ^@ NM_005214.4(CTLA4):c.60G>A (p.Trp20Ter) http://identifiers.org/clinvar/280350 ^@ NM_000090.3(COL3A1):c.3544G>C (p.Gly1182Arg) http://identifiers.org/clinvar/280838 ^@ NM_024782.2(NHEJ1):c.324dupG (p.Arg109Alafs) http://identifiers.org/clinvar/280922 ^@ NM_005633.3(SOS1):c.1374G>C (p.Glu458Asp) http://identifiers.org/clinvar/280285 ^@ NM_015311.2(OBSL1):c.1954delG (p.Glu652Lysfs) http://identifiers.org/clinvar/280282 ^@ NM_015265.3(SATB2):c.1286G>A (p.Arg429Gln) http://identifiers.org/clinvar/280007 ^@ NM_181457.3(PAX3):c.784C>T (p.Arg262Ter) http://identifiers.org/clinvar/280169 ^@ NM_173076.2(ABCA12):c.5787T>G (p.Tyr1929Ter) http://identifiers.org/clinvar/280500 ^@ NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) http://identifiers.org/clinvar/279964 ^@ NM_181457.3(PAX3):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/280383 ^@ NM_014946.3(SPAST):c.1331A>G (p.Asp444Gly) http://identifiers.org/clinvar/279934 ^@ NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr) http://identifiers.org/clinvar/280432 ^@ NM_175629.2(DNMT3A):c.1374delG (p.Lys459Argfs) http://identifiers.org/clinvar/280778 ^@ NM_005633.3(SOS1):c.323A>G (p.Glu108Gly) http://identifiers.org/clinvar/280339 ^@ NM_005633.3(SOS1):c.3821C>G (p.Pro1274Arg) http://identifiers.org/clinvar/280504 ^@ NM_005633.3(SOS1):c.642A>T (p.Gln214His) http://identifiers.org/clinvar/280646 ^@ NM_005633.3(SOS1):c.3148A>G (p.Met1050Val) http://identifiers.org/clinvar/280334 ^@ NM_005413.3(SIX3):c.357delC (p.Ala121Argfs) http://identifiers.org/clinvar/280231 ^@ NM_005633.3(SOS1):c.2227G>C (p.Ala743Pro) http://identifiers.org/clinvar/280932 ^@ NM_003042.3(SLC6A1):c.1648G>A (p.Gly550Arg) http://identifiers.org/clinvar/280820 ^@ NM_005633.3(SOS1):c.1352C>G (p.Thr451Arg) http://identifiers.org/clinvar/279731 ^@ NM_000388.3(CASR):c.164C>T (p.Pro55Leu) http://identifiers.org/clinvar/280139 ^@ NM_001692.3(ATP6V1B1):c.1037C>G (p.Pro346Arg) http://identifiers.org/clinvar/279732 ^@ NM_000388.3(CASR):c.650A>G (p.Asp217Gly) http://identifiers.org/clinvar/280068 ^@ NM_003494.3(DYSF):c.4024C>T (p.Arg1342Trp) http://identifiers.org/clinvar/280925 ^@ NM_002880.3(RAF1):c.1535T>C (p.Met512Thr) http://identifiers.org/clinvar/279916 ^@ NM_000551.3(VHL):c.-12_2dupATCGCGGAGGGAAT http://identifiers.org/clinvar/279925 ^@ NM_002880.3(RAF1):c.122G>T (p.Arg41Leu) http://identifiers.org/clinvar/280308 ^@ NM_000388.3(CASR):c.2364C>G (p.Phe788Leu) http://identifiers.org/clinvar/280161 ^@ NM_052985.3(IFT122):c.2464_2465delTA (p.Tyr822Hisfs) http://identifiers.org/clinvar/280738 ^@ NM_145860.1(PDCD10):c.467dupA (p.Asn156Lysfs) http://identifiers.org/clinvar/280899 ^@ NM_005633.3(SOS1):c.3350A>G (p.Asn1117Ser) http://identifiers.org/clinvar/280399 ^@ NM_000251.2(MSH2):c.2629delA (p.Arg877Glufs) http://identifiers.org/clinvar/280232 ^@ NM_005633.3(SOS1):c.3198T>G (p.Ser1066Arg) http://identifiers.org/clinvar/280657 ^@ NM_000388.3(CASR):c.108dupG (p.Leu37Alafs) http://identifiers.org/clinvar/280875 ^@ NM_006218.3(PIK3CA):c.323G>A (p.Arg108His) http://identifiers.org/clinvar/280092 ^@ NM_003106.3(SOX2):c.181C>T (p.Gln61Ter) http://identifiers.org/clinvar/280164 ^@ NM_002880.3(RAF1):c.1396C>T (p.His466Tyr) http://identifiers.org/clinvar/280790 ^@ NM_005633.3(SOS1):c.757C>T (p.His253Tyr) http://identifiers.org/clinvar/280433 ^@ NM_002880.3(RAF1):c.1349G>A (p.Arg450Gln) http://identifiers.org/clinvar/280163 ^@ NM_002880.3(RAF1):c.934G>C (p.Val312Leu) http://identifiers.org/clinvar/280006 ^@ NM_015560.2(OPA1):c.1516+1G>T http://identifiers.org/clinvar/279879 ^@ NM_002880.3(RAF1):c.78C>G (p.Ser26Arg) http://identifiers.org/clinvar/280783 ^@ NM_005633.3(SOS1):c.104A>G (p.His35Arg) http://identifiers.org/clinvar/280689 ^@ NM_198056.2(SCN5A):c.467G>A (p.Trp156Ter) http://identifiers.org/clinvar/280524 ^@ NM_002880.3(RAF1):c.293T>C (p.Val98Ala) http://identifiers.org/clinvar/279882 ^@ NM_000539.3(RHO):c.404_405delGGinsTT (p.Arg135Leu) http://identifiers.org/clinvar/280194 ^@ NM_001904.3(CTNNB1):c.1043_1044delCT (p.Ser348Cysfs) http://identifiers.org/clinvar/280859 ^@ NM_153240.4(NPHP3):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/279791 ^@ NM_000094.3(COL7A1):c.6769G>A (p.Gly2257Arg) http://identifiers.org/clinvar/280187 ^@ NM_015560.2(OPA1):c.2708-2A>G http://identifiers.org/clinvar/279786 ^@ NM_000094.3(COL7A1):c.3140-1G>A http://identifiers.org/clinvar/280766 ^@ NM_000179.2(MSH6):c.2371delC (p.Arg791Valfs) http://identifiers.org/clinvar/279785 ^@ NM_000094.3(COL7A1):c.1573C>T (p.Arg525Ter) http://identifiers.org/clinvar/280474 ^@ NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) http://identifiers.org/clinvar/280053 ^@ NM_000551.3(VHL):c.164_171dupAGGCCGGG (p.Arg60Glyfs) http://identifiers.org/clinvar/279956 ^@ NM_001904.3(CTNNB1):c.998dupA (p.Tyr333Terfs) http://identifiers.org/clinvar/280428 ^@ NM_000388.3(CASR):c.1630C>T (p.Arg544Ter) http://identifiers.org/clinvar/280125 ^@ NM_005677.3(COLQ):c.679C>T (p.Arg227Ter) http://identifiers.org/clinvar/280333 ^@ NM_000060.4(BTD):c.1410dupC (p.Cys471Leufs) http://identifiers.org/clinvar/279895 ^@ NM_003106.3(SOX2):c.59dupG (p.Gly21Argfs) http://identifiers.org/clinvar/279896 ^@ NM_003106.3(SOX2):c.480C>G (p.Tyr160Ter) http://identifiers.org/clinvar/280544 ^@ NM_139248.2(LIPH):c.789delC (p.Cys263Terfs) http://identifiers.org/clinvar/279825 ^@ NM_152393.3(KLHL40):c.968T>G (p.Ile323Ser) http://identifiers.org/clinvar/279733 ^@ NM_033337.2(CAV3):c.244G>A (p.Val82Ile) http://identifiers.org/clinvar/280138 ^@ NM_139248.2(LIPH):c.328C>T (p.Arg110Ter) http://identifiers.org/clinvar/279734 ^@ NM_033337.2(CAV3):c.346T>C (p.Cys116Arg) http://identifiers.org/clinvar/279790 ^@ NM_000094.3(COL7A1):c.6190G>A (p.Gly2064Arg) http://identifiers.org/clinvar/279736 ^@ NM_033337.2(CAV3):c.401C>T (p.Ala134Val) http://identifiers.org/clinvar/280735 ^@ NM_000094.3(COL7A1):c.4466delG (p.Gly1489Valfs) http://identifiers.org/clinvar/280577 ^@ NM_001080517.2(SETD5):c.3246delT (p.Ala1083Leufs) http://identifiers.org/clinvar/280005 ^@ NM_015560.2(OPA1):c.985-2A>G http://identifiers.org/clinvar/279783 ^@ NM_000094.3(COL7A1):c.553C>T (p.Arg185Ter) http://identifiers.org/clinvar/280325 ^@ NM_001904.3(CTNNB1):c.198G>A (p.Trp66Ter) http://identifiers.org/clinvar/279735 ^@ NM_033337.2(CAV3):c.376C>T (p.Arg126Cys) http://identifiers.org/clinvar/280145 ^@ NM_000204.4(CFI):c.1176_1177dupAT (p.Trp393Tyrfs) http://identifiers.org/clinvar/279913 ^@ NM_003722.4(TP63):c.1027C>T (p.Arg343Trp) http://identifiers.org/clinvar/279737 ^@ NM_001080522.2(CC2D2A):c.157G>A (p.Glu53Lys) http://identifiers.org/clinvar/280195 ^@ NM_002948.3(RPL15):c.310-2A>G http://identifiers.org/clinvar/280362 ^@ NM_133330.2(NSD2):c.2935C>T (p.Arg979Ter) http://identifiers.org/clinvar/280012 ^@ NM_198056.2(SCN5A):c.3622G>T (p.Glu1208Ter) http://identifiers.org/clinvar/279787 ^@ NM_000094.3(COL7A1):c.3942dupG (p.Asn1315Glufs) http://identifiers.org/clinvar/280346 ^@ NM_001904.3(CTNNB1):c.1962T>G (p.Tyr654Ter) http://identifiers.org/clinvar/279784 ^@ NM_000094.3(COL7A1):c.497dupA (p.Val168Glyfs) http://identifiers.org/clinvar/280483 ^@ NM_015175.2(NBEAL2):c.3592C>T (p.Gln1198Ter) http://identifiers.org/clinvar/280654 ^@ NM_032682.5(FOXP1):c.1544_1569dup26 (p.Val524Ilefs) http://identifiers.org/clinvar/280376 ^@ NM_001080517.2(SETD5):c.2347-7A>G http://identifiers.org/clinvar/279890 ^@ NM_016955.3(SEPSECS):c.808dupG (p.Ala270Glyfs) http://identifiers.org/clinvar/279681 ^@ NM_000038.5(APC):c.531+5G>C http://identifiers.org/clinvar/280157 ^@ NM_000094.3(COL7A1):c.6074delG (p.Gly2025Alafs) http://identifiers.org/clinvar/280386 ^@ NM_005859.4(PURA):c.808_809delAC (p.Thr270Leufs) http://identifiers.org/clinvar/280219 ^@ NM_015312.3(KIAA1109):c.997dupA (p.Ile333Asnfs) http://identifiers.org/clinvar/280804 ^@ NM_000806.5(GABRA1):c.788T>A (p.Met263Lys) http://identifiers.org/clinvar/280765 ^@ NM_025132.3(WDR19):c.2363+1G>A http://identifiers.org/clinvar/280938 ^@ NM_022455.4(NSD1):c.1288C>T (p.Gln430Ter) http://identifiers.org/clinvar/279789 ^@ NM_000094.3(COL7A1):c.5027G>A (p.Gly1676Glu) http://identifiers.org/clinvar/280276 ^@ NM_022455.4(NSD1):c.3581_3582delACinsG (p.Asp1194Glyfs) http://identifiers.org/clinvar/279788 ^@ NM_000094.3(COL7A1):c.4448G>A (p.Gly1483Asp) http://identifiers.org/clinvar/280401 ^@ NM_022455.4(NSD1):c.4658delG (p.Gly1553Valfs) http://identifiers.org/clinvar/280463 ^@ NM_032682.5(FOXP1):c.1409A>G (p.Tyr470Cys) http://identifiers.org/clinvar/280800 ^@ NM_022455.4(NSD1):c.5842C>T (p.Arg1948Cys) http://identifiers.org/clinvar/279738 ^@ NM_001080522.2(CC2D2A):c.3320T>G (p.Phe1107Cys) http://identifiers.org/clinvar/279858 ^@ NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) http://identifiers.org/clinvar/280638 ^@ NM_152778.2(MFSD8):c.1061dupT (p.Leu354Phefs) http://identifiers.org/clinvar/279946 ^@ NM_133433.3(NIPBL):c.1942_1954delACAGAAGAACTTAinsCTT (p.Thr648Leufs) http://identifiers.org/clinvar/280137 ^@ NM_000128.3(F11):c.1489C>T (p.Arg497Ter) http://identifiers.org/clinvar/280495 ^@ NM_023073.3(C5orf42):c.3673-1G>C http://identifiers.org/clinvar/280675 ^@ NM_003023.4(SH3BP2):c.1252C>T (p.Pro418Ser) http://identifiers.org/clinvar/279720 ^@ NM_023073.3(C5orf42):c.3380C>A (p.Ser1127Ter) http://identifiers.org/clinvar/280117 ^@ NM_147127.4(EVC2):c.2476C>T (p.Arg826Ter) http://identifiers.org/clinvar/280714 ^@ NM_023073.3(C5orf42):c.677+2T>C http://identifiers.org/clinvar/280829 ^@ NM_003060.3(SLC22A5):c.1053-3_1053-2delCAinsTC http://identifiers.org/clinvar/280458 ^@ NM_005654.5(NR2F1):c.417A>T (p.Gln139His) http://identifiers.org/clinvar/280894 ^@ NM_005859.4(PURA):c.711dupC (p.Asn238Glnfs) http://identifiers.org/clinvar/280290 ^@ NM_017651.4(AHI1):c.2988delA (p.Val997Serfs) http://identifiers.org/clinvar/280439 ^@ NM_015093.5(TAB2):c.1386delC (p.Tyr462Terfs) http://identifiers.org/clinvar/279898 ^@ NM_006846.3(SPINK5):c.1302+4A>T http://identifiers.org/clinvar/280411 ^@ NM_020732.3(ARID1B):c.3361A>T (p.Lys1121Ter) http://identifiers.org/clinvar/280708 ^@ NM_020732.3(ARID1B):c.5338C>T (p.Gln1780Ter) http://identifiers.org/clinvar/279857 ^@ NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) http://identifiers.org/clinvar/280569 ^@ NM_020732.3(ARID1B):c.5547dupC (p.Ser1851Lysfs) http://identifiers.org/clinvar/280129 ^@ NM_058172.5(ANTXR2):c.134T>C (p.Leu45Pro) http://identifiers.org/clinvar/280727 ^@ NM_020732.3(ARID1B):c.5703dupT (p.Lys1902Terfs) http://identifiers.org/clinvar/280494 ^@ NM_001127178.2(PIGG):c.342dupT (p.Thr115Tyrfs) http://identifiers.org/clinvar/280636 ^@ NM_020732.3(ARID1B):c.6629_6651del23 (p.Glu2210Alafs) http://identifiers.org/clinvar/280912 ^@ NM_000222.2(KIT):c.2591_2594delCTTT (p.Ser864Terfs) http://identifiers.org/clinvar/280642 ^@ NM_133433.3(NIPBL):c.4787_4791delTCAGT (p.Phe1596Terfs) http://identifiers.org/clinvar/280008 ^@ NM_000297.3(PKD2):c.1094+1G>A http://identifiers.org/clinvar/280258 ^@ NM_001332.3(CTNND2):c.2653C>T (p.Arg885Ter) http://identifiers.org/clinvar/280812 ^@ NM_000038.5(APC):c.800dupG (p.Glu268Argfs) http://identifiers.org/clinvar/280920 ^@ NM_003322.5(TULP1):c.845delC (p.Pro282Argfs) http://identifiers.org/clinvar/280106 ^@ NM_022464.4(SIL1):c.1030-9G>A http://identifiers.org/clinvar/280414 ^@ NM_012160.4(FBXL4):c.618_621dupACTG (p.Glu208Thrfs) http://identifiers.org/clinvar/280192 ^@ NM_004722.3(AP4M1):c.330C>G (p.Tyr110Ter) http://identifiers.org/clinvar/279899 ^@ NM_006846.3(SPINK5):c.2264dupA (p.Asn755Lysfs) http://identifiers.org/clinvar/280611 ^@ NM_000038.5(APC):c.2395dupT (p.Tyr799Leufs) http://identifiers.org/clinvar/280272 ^@ NM_006846.3(SPINK5):c.2467A>T (p.Lys823Ter) http://identifiers.org/clinvar/280045 ^@ NM_001182.4(ALDH7A1):c.1489+5G>A http://identifiers.org/clinvar/279679 ^@ NM_004722.3(AP4M1):c.1321C>T (p.Arg441Ter) http://identifiers.org/clinvar/279928 ^@ NM_004333.4(BRAF):c.2029G>A (p.Asp677Asn) http://identifiers.org/clinvar/279949 ^@ NM_003060.3(SLC22A5):c.395G>A (p.Trp132Ter) http://identifiers.org/clinvar/280933 ^@ NM_022455.4(NSD1):c.3631_3632delGCinsA (p.Ala1211Lysfs) http://identifiers.org/clinvar/279935 ^@ NM_004333.4(BRAF):c.1493T>A (p.Phe498Tyr) http://identifiers.org/clinvar/280548 ^@ NM_022455.4(NSD1):c.5943delC (p.Cys1981Terfs) http://identifiers.org/clinvar/279992 ^@ NM_004333.4(BRAF):c.1390G>C (p.Gly464Arg) http://identifiers.org/clinvar/280101 ^@ NM_000083.2(CLCN1):c.1453A>G (p.Met485Val) http://identifiers.org/clinvar/279739 ^@ NM_031443.3(CCM2):c.214C>T (p.Gln72Ter) http://identifiers.org/clinvar/280579 ^@ NM_023073.3(C5orf42):c.8630+1G>T http://identifiers.org/clinvar/279990 ^@ NM_001101.3(ACTB):c.1021A>C (p.Ile341Leu) http://identifiers.org/clinvar/280711 ^@ NM_004168.3(SDHA):c.990delC (p.Tyr330Terfs) http://identifiers.org/clinvar/280619 ^@ NM_001101.3(ACTB):c.1020G>T (p.Trp340Cys) http://identifiers.org/clinvar/279940 ^@ NM_001101.3(ACTB):c.143G>A (p.Gly48Asp) http://identifiers.org/clinvar/280744 ^@ NM_005859.4(PURA):c.42_57del16 (p.Leu15Profs) http://identifiers.org/clinvar/279721 ^@ NM_023073.3(C5orf42):c.6989A>G (p.Gln2330Arg) http://identifiers.org/clinvar/280471 ^@ NM_015570.3(AUTS2):c.1004dupC (p.Pro336Thrfs) http://identifiers.org/clinvar/280140 ^@ NM_000587.2(C7):c.1924_1925delAG (p.His643Profs) http://identifiers.org/clinvar/280395 ^@ NM_015570.3(AUTS2):c.1974G>A (p.Trp658Ter) http://identifiers.org/clinvar/280256 ^@ NM_002890.2(RASA1):c.2444_2445delAA (p.Lys815Argfs) http://identifiers.org/clinvar/280576 ^@ NM_005859.4(PURA):c.116dupG (p.Gly40Argfs) http://identifiers.org/clinvar/279880 ^@ NM_002890.2(RASA1):c.2698_2701delGTTT (p.Val900Phefs) http://identifiers.org/clinvar/280270 ^@ NM_001135243.1(TCOF1):c.1278+1G>A http://identifiers.org/clinvar/279827 ^@ NM_194456.1(KRIT1):c.151_154delAAAG (p.Lys51Phefs) http://identifiers.org/clinvar/279855 ^@ NM_005654.5(NR2F1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/280507 ^@ NM_000127.2(EXT1):c.819_820delAG (p.Gly274Aspfs) http://identifiers.org/clinvar/280833 ^@ NM_017909.3(RMND1):c.485delC (p.Pro162Glnfs) http://identifiers.org/clinvar/279947 ^@ NM_133433.3(NIPBL):c.40dupG (p.Ala14Glyfs) http://identifiers.org/clinvar/280257 ^@ NM_020732.3(ARID1B):c.3520_3521delAA (p.Lys1174Alafs) http://identifiers.org/clinvar/280316 ^@ NM_002310.5(LIFR):c.254delA (p.Asn85Thrfs) http://identifiers.org/clinvar/280472 ^@ NM_001135243.1(TCOF1):c.2286_2287delTG (p.Ser764Glnfs) http://identifiers.org/clinvar/280552 ^@ NM_005654.5(NR2F1):c.424C>T (p.Arg142Cys) http://identifiers.org/clinvar/280919 ^@ NM_001017995.2(SH3PXD2B):c.846delC (p.Leu283Cysfs) http://identifiers.org/clinvar/280568 ^@ NM_032861.3(SERAC1):c.227_228dupAT (p.Val77Metfs) http://identifiers.org/clinvar/279856 ^@ NM_022455.4(NSD1):c.1212_1213delGA (p.Lys405Argfs) http://identifiers.org/clinvar/280034 ^@ NM_198586.2(NHLRC1):c.468delA (p.Gly158Glufs) http://identifiers.org/clinvar/279819 ^@ NM_004519.3(KCNQ3):c.1531A>G (p.Met511Val) http://identifiers.org/clinvar/280910 ^@ NM_001075098.3(MOCS1):c.604_624del21 (p.Gly202_Glu208del) http://identifiers.org/clinvar/280769 ^@ NM_000445.4(PLEC):c.1333delC (p.Leu445Cysfs) http://identifiers.org/clinvar/280457 ^@ NM_203290.3(POLR1C):c.70-1G>A http://identifiers.org/clinvar/280246 ^@ NM_006766.4(KAT6A):c.3661G>T (p.Glu1221Ter) http://identifiers.org/clinvar/280559 ^@ NM_020745.3(AARS2):c.2598+1G>T http://identifiers.org/clinvar/280321 ^@ NM_022455.4(NSD1):c.2108delT (p.Leu703Profs) http://identifiers.org/clinvar/279978 ^@ NM_000426.3(LAMA2):c.3215delG (p.Cys1072Serfs) http://identifiers.org/clinvar/280665 ^@ NM_022455.4(NSD1):c.2163_2169delTGGAACC (p.Gly722Argfs) http://identifiers.org/clinvar/280817 ^@ NM_000255.3(MUT):c.1065_1068dupATGG (p.Ser357Metfs) http://identifiers.org/clinvar/279719 ^@ NM_023073.3(C5orf42):c.1839A>C (p.Lys613Asn) http://identifiers.org/clinvar/279874 ^@ NM_138694.3(PKHD1):c.10637delT (p.Val3546Alafs) http://identifiers.org/clinvar/280828 ^@ NM_023073.3(C5orf42):c.57G>A (p.Trp19Ter) http://identifiers.org/clinvar/280520 ^@ NM_000426.3(LAMA2):c.3799_3821del23 (p.Phe1267Aspfs) http://identifiers.org/clinvar/280067 ^@ NM_000521.3(HEXB):c.552T>G (p.Tyr184Ter) http://identifiers.org/clinvar/279936 ^@ NM_033071.3(SYNE1):c.226-2dupA http://identifiers.org/clinvar/280556 ^@ NM_002890.2(RASA1):c.2164G>T (p.Glu722Ter) http://identifiers.org/clinvar/280118 ^@ NM_006749.4(SLC20A2):c.509delT (p.Leu170Terfs) http://identifiers.org/clinvar/280216 ^@ NM_020732.3(ARID1B):c.4322dupA (p.His1441Glnfs) http://identifiers.org/clinvar/279924 ^@ NM_004333.4(BRAF):c.2101A>G (p.Arg701Gly) http://identifiers.org/clinvar/280128 ^@ NM_002890.2(RASA1):c.2450_2451delCT (p.Ser817Tyrfs) http://identifiers.org/clinvar/279758 ^@ NM_017780.3(CHD7):c.3089A>G (p.Asn1030Ser) http://identifiers.org/clinvar/280516 ^@ NM_020732.3(ARID1B):c.1245delC (p.Thr416Profs) http://identifiers.org/clinvar/279761 ^@ NM_017780.3(CHD7):c.4189C>T (p.Gln1397Ter) http://identifiers.org/clinvar/280225 ^@ NM_020732.3(ARID1B):c.2200_2201delGGinsT (p.Gly734Serfs) http://identifiers.org/clinvar/280104 ^@ NM_018972.2(GDAP1):c.501delA (p.Glu168Serfs) http://identifiers.org/clinvar/280385 ^@ NM_004333.4(BRAF):c.956C>T (p.Ser319Phe) http://identifiers.org/clinvar/280421 ^@ NM_020732.3(ARID1B):c.4152delC (p.Lys1385Serfs) http://identifiers.org/clinvar/280651 ^@ NM_020732.3(ARID1B):c.5811G>A (p.Trp1937Ter) http://identifiers.org/clinvar/280515 ^@ NM_020732.3(ARID1B):c.5570_5573delAAGA (p.Lys1857Serfs) http://identifiers.org/clinvar/280066 ^@ NM_001453.2(FOXC1):c.456G>A (p.Trp152Ter) http://identifiers.org/clinvar/280464 ^@ NM_020732.3(ARID1B):c.6120_6130delCACGGAAAGCAinsGACTTG (p.Tyr2040Terfs) http://identifiers.org/clinvar/279923 ^@ NM_004333.4(BRAF):c.272C>T (p.Ala91Val) http://identifiers.org/clinvar/280857 ^@ NM_203290.3(POLR1C):c.699C>G (p.Tyr233Ter) http://identifiers.org/clinvar/280435 ^@ NM_006245.3(PPP2R5D):c.619T>C (p.Trp207Arg) http://identifiers.org/clinvar/280580 ^@ NM_017890.4(VPS13B):c.6200T>A (p.Leu2067Ter) http://identifiers.org/clinvar/279781 ^@ NM_017890.4(VPS13B):c.7292delA (p.Asn2431Thrfs) http://identifiers.org/clinvar/280858 ^@ NM_183227.2(RAB23):c.82C>T (p.Arg28Ter) http://identifiers.org/clinvar/280531 ^@ NM_001080508.2(TBX18):c.1285C>T (p.Arg429Ter) http://identifiers.org/clinvar/280430 ^@ NM_020320.4(RARS2):c.1423G>T (p.Glu475Ter) http://identifiers.org/clinvar/280484 ^@ NM_017890.4(VPS13B):c.8254C>T (p.Gln2752Ter) http://identifiers.org/clinvar/280467 ^@ NM_003165.3(STXBP1):c.124T>C (p.Ser42Pro) http://identifiers.org/clinvar/280165 ^@ NM_018718.2(CEP41):c.418C>T (p.Gln140Ter) http://identifiers.org/clinvar/280880 ^@ NM_000083.2(CLCN1):c.2023delC (p.Gln675Lysfs) http://identifiers.org/clinvar/280913 ^@ NM_003165.3(STXBP1):c.634delTinsCAACAATGATG (p.Tyr212Glnfs) http://identifiers.org/clinvar/280677 ^@ NM_004333.4(BRAF):c.1860+3A>G http://identifiers.org/clinvar/279904 ^@ NM_003165.3(STXBP1):c.1217G>A (p.Arg406His) http://identifiers.org/clinvar/280033 ^@ NM_004333.4(BRAF):c.1796C>G (p.Thr599Arg) http://identifiers.org/clinvar/280103 ^@ NM_000083.2(CLCN1):c.2831dupC (p.Gly945Argfs) http://identifiers.org/clinvar/280167 ^@ NM_004333.4(BRAF):c.1168G>A (p.Gly390Ser) http://identifiers.org/clinvar/280715 ^@ NM_020632.2(ATP6V0A4):c.334C>T (p.Gln112Ter) http://identifiers.org/clinvar/280020 ^@ NM_000118.3(ENG):c.1554_1555delCC (p.Leu519Alafs) http://identifiers.org/clinvar/280100 ^@ NM_000083.2(CLCN1):c.854G>A (p.Gly285Glu) http://identifiers.org/clinvar/280320 ^@ NM_016035.4(COQ4):c.23_33delTCCTCCGTCGG (p.Val8Alafs) http://identifiers.org/clinvar/279778 ^@ NM_000083.2(CLCN1):c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) http://identifiers.org/clinvar/279831 ^@ NM_006059.3(LAMC3):c.1414C>A (p.His472Asn) http://identifiers.org/clinvar/279985 ^@ NM_001101426.3(ISPD):c.53dupT (p.Ser19Glufs) http://identifiers.org/clinvar/280488 ^@ NM_170606.2(KMT2C):c.5409_5413dupTAGTG (p.Gly1805Valfs) http://identifiers.org/clinvar/280887 ^@ NM_000368.4(TSC1):c.2075_2120dup46 (p.Phe707Leufs) http://identifiers.org/clinvar/279809 ^@ NM_017946.3(FKBP14):c.362dupC (p.Glu122Argfs) http://identifiers.org/clinvar/280491 ^@ NM_000368.4(TSC1):c.1727delT (p.Leu576Trpfs) http://identifiers.org/clinvar/279952 ^@ NM_004333.4(BRAF):c.1189G>T (p.Gly397Cys) http://identifiers.org/clinvar/280931 ^@ NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) http://identifiers.org/clinvar/279824 ^@ NM_001031710.2(KLHL7):c.976C>T (p.Arg326Ter) http://identifiers.org/clinvar/280682 ^@ NM_024757.4(EHMT1):c.2704C>T (p.Arg902Ter) http://identifiers.org/clinvar/279703 ^@ NM_152743.3(BRAT1):c.294dupA (p.Leu99Thrfs) http://identifiers.org/clinvar/280814 ^@ NM_003070.4(SMARCA2):c.3650T>C (p.Leu1217Pro) http://identifiers.org/clinvar/279929 ^@ NM_203447.3(DOCK8):c.949C>T (p.Arg317Ter) http://identifiers.org/clinvar/280123 ^@ NM_007126.3(VCP):c.475C>T (p.Arg159Cys) http://identifiers.org/clinvar/280892 ^@ NM_000162.3(GCK):c.1163dupG (p.Val389Argfs) http://identifiers.org/clinvar/280661 ^@ NM_004333.4(BRAF):c.107C>T (p.Ser36Phe) http://identifiers.org/clinvar/279943 ^@ NM_001101.3(ACTB):c.155C>T (p.Ser52Phe) http://identifiers.org/clinvar/280668 ^@ NM_018238.3(AGK):c.102-1G>T http://identifiers.org/clinvar/280004 ^@ NM_016042.3(EXOSC3):c.155delC (p.Pro52Argfs) http://identifiers.org/clinvar/280255 ^@ NM_018238.3(AGK):c.1047-2A>T http://identifiers.org/clinvar/280512 ^@ NM_138701.3(MPLKIP):c.173dupC (p.Arg59Terfs) http://identifiers.org/clinvar/280015 ^@ NM_000170.2(GLDC):c.2665+1G>C http://identifiers.org/clinvar/280808 ^@ NM_004817.3(TJP2):c.570_574dupCCTCA (p.Ser192Thrfs) http://identifiers.org/clinvar/280629 ^@ NM_000265.5(NCF1):c.186dupA (p.Gly63Argfs) http://identifiers.org/clinvar/279716 ^@ NM_021830.4(TWNK):c.2050A>C (p.Lys684Gln) http://identifiers.org/clinvar/280400 ^@ NM_016628.4(WAC):c.451C>T (p.Arg151Ter) http://identifiers.org/clinvar/280431 ^@ NM_016628.4(WAC):c.1171dupA (p.Thr391Asnfs) http://identifiers.org/clinvar/279938 ^@ NM_001101.3(ACTB):c.597C>G (p.Ser199Arg) http://identifiers.org/clinvar/280298 ^@ NM_022124.5(CDH23):c.6402_6405delAGAG (p.Glu2135Serfs) http://identifiers.org/clinvar/279942 ^@ NM_001101.3(ACTB):c.82C>G (p.Arg28Gly) http://identifiers.org/clinvar/280331 ^@ NM_194456.1(KRIT1):c.1192_1204delGAAAACAAACAAA (p.Glu398Thrfs) http://identifiers.org/clinvar/280102 ^@ NM_000083.2(CLCN1):c.2364+2T>A http://identifiers.org/clinvar/280479 ^@ NM_003919.2(SGCE):c.299G>A (p.Trp100Ter) http://identifiers.org/clinvar/280860 ^@ NM_014141.5(CNTNAP2):c.1819C>T (p.Gln607Ter) http://identifiers.org/clinvar/279815 ^@ NM_012330.3(KAT6B):c.3147G>A (p.Pro1049=) http://identifiers.org/clinvar/280351 ^@ NM_194456.1(KRIT1):c.1685dupT (p.Tyr563Leufs) http://identifiers.org/clinvar/280459 ^@ NM_004260.3(RECQL4):c.1102delG (p.Ala368Hisfs) http://identifiers.org/clinvar/280498 ^@ NM_000162.3(GCK):c.148dupC (p.His50Profs) http://identifiers.org/clinvar/280606 ^@ NM_023110.2(FGFR1):c.1431-1G>A http://identifiers.org/clinvar/279997 ^@ NM_001101.3(ACTB):c.1043C>T (p.Ser348Leu) http://identifiers.org/clinvar/280567 ^@ NM_000089.3(COL1A2):c.2054G>A (p.Gly685Asp) http://identifiers.org/clinvar/279937 ^@ NM_001101.3(ACTB):c.559_562delGACT (p.Asp187Thrfs) http://identifiers.org/clinvar/279804 ^@ NM_000127.2(EXT1):c.1468dupC (p.Leu490Profs) http://identifiers.org/clinvar/280462 ^@ NM_006766.4(KAT6A):c.3553C>T (p.Gln1185Ter) http://identifiers.org/clinvar/279820 ^@ NM_004519.3(KCNQ3):c.2469dupG (p.Ser824Valfs) http://identifiers.org/clinvar/280659 ^@ NM_006766.4(KAT6A):c.3182T>G (p.Leu1061Ter) http://identifiers.org/clinvar/280311 ^@ NM_012330.3(KAT6B):c.3499_3500delAG (p.Arg1167Alafs) http://identifiers.org/clinvar/280572 ^@ NM_006749.4(SLC20A2):c.971C>A (p.Ser324Ter) http://identifiers.org/clinvar/279818 ^@ NM_004519.3(KCNQ3):c.1471G>A (p.Gly491Arg) http://identifiers.org/clinvar/279753 ^@ NM_017780.3(CHD7):c.434G>A (p.Trp145Ter) http://identifiers.org/clinvar/280398 ^@ NM_007175.6(ERLIN2):c.17delC (p.Ala6Glufs) http://identifiers.org/clinvar/280542 ^@ NM_017780.3(CHD7):c.4961delA (p.Tyr1654Serfs) http://identifiers.org/clinvar/280903 ^@ NM_000037.3(ANK1):c.2736-1G>A http://identifiers.org/clinvar/280733 ^@ NM_012330.3(KAT6B):c.5101C>T (p.Gln1701Ter) http://identifiers.org/clinvar/279939 ^@ NM_001101.3(ACTB):c.127G>A (p.Val43Met) http://identifiers.org/clinvar/280799 ^@ NM_012330.3(KAT6B):c.5251C>G (p.Pro1751Ala) http://identifiers.org/clinvar/280905 ^@ NM_017780.3(CHD7):c.6105delA (p.Glu2035Aspfs) http://identifiers.org/clinvar/280652 ^@ NM_001002295.1(GATA3):c.681dupC (p.Glu228Argfs) http://identifiers.org/clinvar/280294 ^@ NM_004820.4(CYP7B1):c.793C>T (p.Gln265Ter) http://identifiers.org/clinvar/280752 ^@ NM_033100.3(CDHR1):c.863-1G>A http://identifiers.org/clinvar/280368 ^@ NM_017890.4(VPS13B):c.5753_5754delTT (p.Leu1918Argfs) http://identifiers.org/clinvar/280630 ^@ NM_000314.6(PTEN):c.286C>G (p.Pro96Ala) http://identifiers.org/clinvar/280240 ^@ NM_006766.4(KAT6A):c.5546_5555delTGCCAGTGAA (p.Met1849Argfs) http://identifiers.org/clinvar/280041 ^@ NM_003165.3(STXBP1):c.1060T>C (p.Cys354Arg) http://identifiers.org/clinvar/280235 ^@ NM_004523.3(KIF11):c.24_26delTGCinsAG (p.Ala9Glyfs) http://identifiers.org/clinvar/280873 ^@ NM_006766.4(KAT6A):c.3505C>T (p.Arg1169Ter) http://identifiers.org/clinvar/280152 ^@ NM_194456.1(KRIT1):c.1355_1356delGT (p.Arg452Profs) http://identifiers.org/clinvar/280545 ^@ NM_006766.4(KAT6A):c.3432dupA (p.Pro1145Thrfs) http://identifiers.org/clinvar/280171 ^@ NM_000089.3(COL1A2):c.2009delG (p.Gly670Alafs) http://identifiers.org/clinvar/280009 ^@ NM_004376.6(COX15):c.396-3C>G http://identifiers.org/clinvar/280747 ^@ NM_014112.4(TRPS1):c.2822C>A (p.Ser941Ter) http://identifiers.org/clinvar/280021 ^@ NM_000118.3(ENG):c.816G>A (p.Trp272Ter) http://identifiers.org/clinvar/280268 ^@ NM_006265.2(RAD21):c.578T>A (p.Leu193Ter) http://identifiers.org/clinvar/279672 ^@ NM_000019.3(ACAT1):c.890C>T (p.Thr297Met) http://identifiers.org/clinvar/279830 ^@ NM_006059.3(LAMC3):c.290A>G (p.Gln97Arg) http://identifiers.org/clinvar/280122 ^@ NM_006749.4(SLC20A2):c.338C>G (p.Ser113Ter) http://identifiers.org/clinvar/279834 ^@ NM_006059.3(LAMC3):c.4146G>C (p.Arg1382Ser) http://identifiers.org/clinvar/280786 ^@ NM_000051.3(ATM):c.663-2A>G http://identifiers.org/clinvar/280761 ^@ NM_007171.3(POMT1):c.2179_2180dupTC (p.Pro728Argfs) http://identifiers.org/clinvar/280796 ^@ NM_000051.3(ATM):c.4405delA (p.Ile1469Phefs) http://identifiers.org/clinvar/280867 ^@ NM_078480.2(PUF60):c.485G>A (p.Trp162Ter) http://identifiers.org/clinvar/280291 ^@ NM_015046.5(SETX):c.4936C>T (p.Gln1646Ter) http://identifiers.org/clinvar/279762 ^@ NM_017780.3(CHD7):c.5029C>T (p.Arg1677Ter) http://identifiers.org/clinvar/280027 ^@ NM_015046.5(SETX):c.4816C>T (p.Arg1606Ter) http://identifiers.org/clinvar/279821 ^@ NM_020822.2(KCNT1):c.3317G>A (p.Arg1106Gln) http://identifiers.org/clinvar/280921 ^@ NM_017780.3(CHD7):c.6781delG (p.Ala2261Leufs) http://identifiers.org/clinvar/280641 ^@ NM_006766.4(KAT6A):c.1536dupT (p.Glu513Terfs) http://identifiers.org/clinvar/280879 ^@ NM_000503.5(EYA1):c.418+1G>A http://identifiers.org/clinvar/279749 ^@ NM_000077.4(CDKN2A):c.307_308delCG (p.Arg103Alafs) http://identifiers.org/clinvar/279779 ^@ NM_017890.4(VPS13B):c.6002delC (p.Pro2001Leufs) http://identifiers.org/clinvar/280478 ^@ NM_000051.3(ATM):c.8672-1G>C http://identifiers.org/clinvar/280369 ^@ NM_017890.4(VPS13B):c.7627_7630delTGTC (p.Cys2543Argfs) http://identifiers.org/clinvar/280444 ^@ NM_032237.4(POMK):c.917dupT (p.Leu306Phefs) http://identifiers.org/clinvar/279833 ^@ NM_006059.3(LAMC3):c.3027C>G (p.His1009Gln) http://identifiers.org/clinvar/279757 ^@ NM_017780.3(CHD7):c.934C>T (p.Arg312Ter) http://identifiers.org/clinvar/280208 ^@ NM_000368.4(TSC1):c.2156delT (p.Leu719Profs) http://identifiers.org/clinvar/279759 ^@ NM_017780.3(CHD7):c.3655C>T (p.Arg1219Ter) http://identifiers.org/clinvar/280807 ^@ NM_001197104.1(KMT2A):c.8864_8868delTCTCA (p.Ile2955Argfs) http://identifiers.org/clinvar/280309 ^@ NM_000368.4(TSC1):c.1987G>T (p.Glu663Ter) http://identifiers.org/clinvar/280306 ^@ NM_203447.3(DOCK8):c.2606-1G>A http://identifiers.org/clinvar/280429 ^@ NM_000368.4(TSC1):c.914-2A>G http://identifiers.org/clinvar/280639 ^@ NM_002140.4(HNRNPK):c.779dupG (p.Asp262Terfs) http://identifiers.org/clinvar/280843 ^@ NM_000368.4(TSC1):c.850_881del32insGCTTTCCTCATCGTT (p.Arg284Alafs) http://identifiers.org/clinvar/280115 ^@ NM_000352.4(ABCC8):c.3130_3149del20 (p.Thr1044Leufs) http://identifiers.org/clinvar/280757 ^@ NM_000368.4(TSC1):c.738-2A>T http://identifiers.org/clinvar/280536 ^@ NM_181507.1(HPS5):c.2979_2982delTTTG (p.Cys993Trpfs) http://identifiers.org/clinvar/280821 ^@ NM_000368.4(TSC1):c.74dupT (p.Thr26Aspfs) http://identifiers.org/clinvar/279862 ^@ NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) http://identifiers.org/clinvar/279893 ^@ NM_005445.3(SMC3):c.1942A>G (p.Met648Val) http://identifiers.org/clinvar/280562 ^@ NM_000448.2(RAG1):c.746delGinsAA (p.Arg249Glnfs) http://identifiers.org/clinvar/279760 ^@ NM_017780.3(CHD7):c.3967G>A (p.Glu1323Lys) http://identifiers.org/clinvar/279701 ^@ NM_004183.3(BEST1):c.37C>T (p.Arg13Cys) http://identifiers.org/clinvar/280354 ^@ NM_017780.3(CHD7):c.6243C>A (p.Cys2081Ter) http://identifiers.org/clinvar/280292 ^@ NM_018076.4(ARMC4):c.2406delT (p.Val803Terfs) http://identifiers.org/clinvar/279763 ^@ NM_017780.3(CHD7):c.6754delG (p.Glu2252Lysfs) http://identifiers.org/clinvar/279754 ^@ NM_020549.4(CHAT):c.406G>A (p.Val136Met) http://identifiers.org/clinvar/280640 ^@ NM_017780.3(CHD7):c.7820delG (p.Ser2607Ilefs) http://identifiers.org/clinvar/280690 ^@ NM_001130103.1(COL13A1):c.621delA (p.Gly208Glufs) http://identifiers.org/clinvar/280789 ^@ NM_017780.3(CHD7):c.8062dupA (p.Ile2688Asnfs) http://identifiers.org/clinvar/280499 ^@ NM_020822.2(KCNT1):c.1546A>G (p.Met516Val) http://identifiers.org/clinvar/279845 ^@ NM_000429.2(MAT1A):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/279852 ^@ NM_130799.2(MEN1):c.1546dupC (p.Arg516Profs) http://identifiers.org/clinvar/279878 ^@ NM_000314.6(PTEN):c.633C>G (p.Cys211Trp) http://identifiers.org/clinvar/280564 ^@ NM_130799.2(MEN1):c.1336delC (p.Arg446Valfs) http://identifiers.org/clinvar/280018 ^@ NM_017890.4(VPS13B):c.5998_5999delCT (p.Leu2000Alafs) http://identifiers.org/clinvar/279812 ^@ NM_019892.5(INPP5E):c.490dupG (p.Val164Glyfs) http://identifiers.org/clinvar/280573 ^@ NM_000195.4(HPS1):c.988-44_1023del80insT http://identifiers.org/clinvar/280895 ^@ NM_024757.4(EHMT1):c.2408C>G (p.Ser803Ter) http://identifiers.org/clinvar/279850 ^@ NM_130799.2(MEN1):c.340dupA (p.Ser114Lysfs) http://identifiers.org/clinvar/279884 ^@ NR_003051.3(RMRP):n.215A>C http://identifiers.org/clinvar/280343 ^@ NM_014956.4(CEP164):c.1946delA (p.Glu649Glyfs) http://identifiers.org/clinvar/279715 ^@ NM_021830.4(TWNK):c.241C>G (p.Leu81Val) http://identifiers.org/clinvar/280722 ^@ NM_001197104.1(KMT2A):c.3565T>C (p.Cys1189Arg) http://identifiers.org/clinvar/279697 ^@ NM_004281.3(BAG3):c.67C>T (p.Pro23Ser) http://identifiers.org/clinvar/280782 ^@ NM_007103.3(NDUFV1):c.53_54delTG (p.Val18Alafs) http://identifiers.org/clinvar/279780 ^@ NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) http://identifiers.org/clinvar/279945 ^@ NM_147191.1(MMP21):c.240dupC (p.Lys81Glnfs) http://identifiers.org/clinvar/279782 ^@ NM_017890.4(VPS13B):c.9793dupA (p.Met3265Asnfs) http://identifiers.org/clinvar/279987 ^@ NM_004055.4(CAPN5):c.865C>T (p.Arg289Trp) http://identifiers.org/clinvar/280338 ^@ NM_016628.4(WAC):c.1820dupA (p.Asn607Lysfs) http://identifiers.org/clinvar/280748 ^@ NM_001197104.1(KMT2A):c.5251A>T (p.Lys1751Ter) http://identifiers.org/clinvar/280193 ^@ NM_020975.4(RET):c.890dupG (p.Val298Cysfs) http://identifiers.org/clinvar/280737 ^@ NM_130466.3(UBE3B):c.256delC (p.Leu86Tyrfs) http://identifiers.org/clinvar/280771 ^@ NM_003165.3(STXBP1):c.662dupA (p.Asp224Argfs) http://identifiers.org/clinvar/279919 ^@ NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) http://identifiers.org/clinvar/280844 ^@ NM_003165.3(STXBP1):c.902+1G>C http://identifiers.org/clinvar/280598 ^@ NM_005188.3(CBL):c.1237G>C (p.Gly413Arg) http://identifiers.org/clinvar/280198 ^@ NM_015335.4(MED13L):c.5278C>T (p.Arg1760Ter) http://identifiers.org/clinvar/279723 ^@ NM_000719.6(CACNA1C):c.5671G>C (p.Ala1891Pro) http://identifiers.org/clinvar/280688 ^@ NM_001130103.1(COL13A1):c.271C>T (p.Arg91Ter) http://identifiers.org/clinvar/279717 ^@ NM_020374.3(C12orf4):c.639_642dupACAA (p.Ser215Thrfs) http://identifiers.org/clinvar/280112 ^@ NM_001083116.1(PRF1):c.666C>A (p.His222Gln) http://identifiers.org/clinvar/280175 ^@ NM_001844.4(COL2A1):c.2609G>T (p.Gly870Val) http://identifiers.org/clinvar/280227 ^@ NM_005188.3(CBL):c.1366G>T (p.Asp456Tyr) http://identifiers.org/clinvar/280156 ^@ NM_006077.3(MICU1):c.644_645delCA (p.Thr215Asnfs) http://identifiers.org/clinvar/280319 ^@ NM_000118.3(ENG):c.712delG (p.Val238Trpfs) http://identifiers.org/clinvar/280926 ^@ NM_001844.4(COL2A1):c.2536G>A (p.Gly846Arg) http://identifiers.org/clinvar/280148 ^@ NM_004408.3(DNM1):c.709C>T (p.Arg237Trp) http://identifiers.org/clinvar/279993 ^@ NM_006077.3(MICU1):c.386G>C (p.Arg129Pro) http://identifiers.org/clinvar/280854 ^@ NM_012330.3(KAT6B):c.3918delG (p.Ile1307Leufs) http://identifiers.org/clinvar/280170 ^@ NM_005188.3(CBL):c.1384C>T (p.Arg462Ter) http://identifiers.org/clinvar/279832 ^@ NM_006059.3(LAMC3):c.2714T>G (p.Phe905Cys) http://identifiers.org/clinvar/280264 ^@ NM_005188.3(CBL):c.1516C>G (p.Arg506Gly) http://identifiers.org/clinvar/280760 ^@ NM_007171.3(POMT1):c.1241+2dupT http://identifiers.org/clinvar/280805 ^@ NM_001844.4(COL2A1):c.1816G>C (p.Gly606Arg) http://identifiers.org/clinvar/280293 ^@ NM_000368.4(TSC1):c.1165G>T (p.Gly389Ter) http://identifiers.org/clinvar/280485 ^@ NM_000280.4(PAX6):c.551delG (p.Gly184Glufs) http://identifiers.org/clinvar/280427 ^@ NM_007055.3(POLR3A):c.491-2A>G http://identifiers.org/clinvar/280263 ^@ NM_003482.3(KMT2D):c.16469_16472delAAGA (p.Lys5490Argfs) http://identifiers.org/clinvar/280724 ^@ NM_000314.6(PTEN):c.80A>C (p.Tyr27Ser) http://identifiers.org/clinvar/280416 ^@ NM_003482.3(KMT2D):c.5139delG (p.Pro1714Leufs) http://identifiers.org/clinvar/280010 ^@ NM_003172.3(SURF1):c.688C>T (p.Arg230Ter) http://identifiers.org/clinvar/279996 ^@ NM_005343.3(HRAS):c.64C>T (p.Gln22Ter) http://identifiers.org/clinvar/280648 ^@ NM_000314.6(PTEN):c.392_393dupCT (p.Gly132Leufs) http://identifiers.org/clinvar/279851 ^@ NM_130799.2(MEN1):c.1429dupG (p.Glu477Glyfs) http://identifiers.org/clinvar/280031 ^@ NM_000314.6(PTEN):c.634+5G>A http://identifiers.org/clinvar/280424 ^@ NM_130799.2(MEN1):c.490_491delGCinsT (p.Ala164Serfs) http://identifiers.org/clinvar/280254 ^@ NM_020822.2(KCNT1):c.1420C>A (p.Arg474Ser) http://identifiers.org/clinvar/280248 ^@ NM_000391.3(TPP1):c.938_939delAT (p.Asn313Argfs) http://identifiers.org/clinvar/279822 ^@ NM_020822.2(KCNT1):c.3598C>T (p.Arg1200Cys) http://identifiers.org/clinvar/280736 ^@ NM_130466.3(UBE3B):c.941-1G>A http://identifiers.org/clinvar/280032 ^@ NM_000314.6(PTEN):c.870delA (p.Glu291Lysfs) http://identifiers.org/clinvar/280505 ^@ NM_170665.3(ATP2A2):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/280215 ^@ NM_004523.3(KIF11):c.1702+1G>A http://identifiers.org/clinvar/280901 ^@ NM_025114.3(CEP290):c.3943G>T (p.Glu1315Ter) http://identifiers.org/clinvar/280566 ^@ NM_170665.3(ATP2A2):c.291_292delAT (p.Leu98Serfs) http://identifiers.org/clinvar/279837 ^@ NM_014564.4(LHX3):c.935G>C (p.Arg312Pro) http://identifiers.org/clinvar/280259 ^@ NM_002834.4(PTPN11):c.845T>C (p.Ile282Thr) http://identifiers.org/clinvar/280274 ^@ NM_144670.5(A2ML1):c.787A>C (p.Asn263His) http://identifiers.org/clinvar/280001 ^@ NM_005188.3(CBL):c.1351C>G (p.Pro451Ala) http://identifiers.org/clinvar/279838 ^@ NM_002312.3(LIG4):c.1271_1275delAAAGA (p.Lys424Argfs) http://identifiers.org/clinvar/280114 ^@ NM_000352.4(ABCC8):c.4308-2A>G http://identifiers.org/clinvar/280250 ^@ NM_002834.4(PTPN11):c.879C>G (p.His293Gln) http://identifiers.org/clinvar/280827 ^@ NM_001845.5(COL4A1):c.2672G>A (p.Gly891Asp) http://identifiers.org/clinvar/280413 ^@ NM_015335.4(MED13L):c.6284dupT (p.Ala2096Glyfs) http://identifiers.org/clinvar/280855 ^@ NM_001164144.2(CHAMP1):c.1850dupA (p.Lys618Glufs) http://identifiers.org/clinvar/280061 ^@ NM_000017.3(ACADS):c.820G>A (p.Gly274Ser) http://identifiers.org/clinvar/280095 ^@ NM_014363.5(SACS):c.2182C>T (p.Arg728Ter) http://identifiers.org/clinvar/279836 ^@ NM_014564.4(LHX3):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/279707 ^@ NM_000059.3(BRCA2):c.8860T>C (p.Ser2954Pro) http://identifiers.org/clinvar/280627 ^@ NM_024757.4(EHMT1):c.2222delA (p.Gln741Argfs) http://identifiers.org/clinvar/280425 ^@ NM_002336.2(LRP6):c.2953C>T (p.Arg985Ter) http://identifiers.org/clinvar/280934 ^@ NM_024757.4(EHMT1):c.2431_2435delATGGAinsTGGG (p.Met811Trpfs) http://identifiers.org/clinvar/280553 ^@ NM_000834.3(GRIN2B):c.3012C>G (p.Tyr1004Ter) http://identifiers.org/clinvar/280200 ^@ NM_024757.4(EHMT1):c.3342delCinsAAG (p.Asn1114Lysfs) http://identifiers.org/clinvar/280040 ^@ NM_000053.3(ATP7B):c.4195delC (p.Gln1399Argfs) http://identifiers.org/clinvar/280791 ^@ NM_001844.4(COL2A1):c.1996-1G>A http://identifiers.org/clinvar/279792 ^@ NM_003476.4(CSRP3):c.122_123dupGG (p.Lys42Glyfs) http://identifiers.org/clinvar/280726 ^@ NM_003070.4(SMARCA2):c.3313C>G (p.Arg1105Gly) http://identifiers.org/clinvar/280305 ^@ NM_001004127.2(ALG11):c.1123_1126delAACA (p.Asn375Phefs) http://identifiers.org/clinvar/279980 ^@ NM_003070.4(SMARCA2):c.3439G>A (p.Asp1147Asn) http://identifiers.org/clinvar/280680 ^@ NM_001844.4(COL2A1):c.544C>T (p.Gln182Ter) http://identifiers.org/clinvar/280364 ^@ NM_007129.3(ZIC2):c.1097dupA (p.Phe367Valfs) http://identifiers.org/clinvar/280734 ^@ NM_001170629.1(CHD8):c.3733C>T (p.Arg1245Ter) http://identifiers.org/clinvar/280456 ^@ NM_003482.3(KMT2D):c.15708_15717delCGGGCGGCCGinsTA (p.Gly5237Argfs) http://identifiers.org/clinvar/279764 ^@ NM_001170629.1(CHD8):c.871C>T (p.Leu291Phe) http://identifiers.org/clinvar/280124 ^@ NM_007126.3(VCP):c.283C>T (p.Arg95Cys) http://identifiers.org/clinvar/280173 ^@ NM_000218.2(KCNQ1):c.691C>A (p.Arg231Ser) http://identifiers.org/clinvar/280691 ^@ NM_015665.5(AAAS):c.310_317delTTTGAGTG (p.Phe104Glyfs) http://identifiers.org/clinvar/279861 ^@ NM_000280.4(PAX6):c.371delA (p.Asn124Thrfs) http://identifiers.org/clinvar/280299 ^@ NM_001099274.1(TINF2):c.936C>A (p.Tyr312Ter) http://identifiers.org/clinvar/280450 ^@ NM_001131025.1(PEX5):c.1803_1805delGAAinsTC (p.Glu601Aspfs) http://identifiers.org/clinvar/280143 ^@ NM_020529.2(NFKBIA):c.25C>T (p.Gln9Ter) http://identifiers.org/clinvar/279751 ^@ NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) http://identifiers.org/clinvar/280746 ^@ NM_006939.3(SOS2):c.1273A>G (p.Lys425Glu) http://identifiers.org/clinvar/279883 ^@ NR_003051.3(RMRP):n.-19_-13dupTCTGTGA http://identifiers.org/clinvar/279944 ^@ NM_207122.1(EXT2):c.398_401dupTGCT (p.Met135Alafs) http://identifiers.org/clinvar/280896 ^@ NM_006939.3(SOS2):c.142A>G (p.Ile48Val) http://identifiers.org/clinvar/279902 ^@ NM_000347.5(SPTB):c.5651C>T (p.Ala1884Val) http://identifiers.org/clinvar/279805 ^@ NM_207122.1(EXT2):c.906_907dupGC (p.His303Argfs) http://identifiers.org/clinvar/280510 ^@ NM_001040616.2(LINS1):c.1178T>G (p.Leu393Ter) http://identifiers.org/clinvar/280898 ^@ NM_144670.5(A2ML1):c.1678A>G (p.Asn560Asp) http://identifiers.org/clinvar/280647 ^@ NM_203447.3(DOCK8):c.5261delT (p.Leu1754Argfs) http://identifiers.org/clinvar/280327 ^@ NM_144670.5(A2ML1):c.2176G>T (p.Asp726Tyr) http://identifiers.org/clinvar/280716 ^@ NM_002140.4(HNRNPK):c.1250C>A (p.Ser417Ter) http://identifiers.org/clinvar/280348 ^@ NM_144670.5(A2ML1):c.2945T>C (p.Ile982Thr) http://identifiers.org/clinvar/280011 ^@ NM_000256.3(MYBPC3):c.2716delG (p.Val906Trpfs) http://identifiers.org/clinvar/280802 ^@ NM_000264.3(PTCH1):c.2899G>T (p.Glu967Ter) http://identifiers.org/clinvar/279971 ^@ NM_000256.3(MYBPC3):c.906-1G>A http://identifiers.org/clinvar/280329 ^@ NM_000494.3(COL17A1):c.4050delA (p.Ala1351Glnfs) http://identifiers.org/clinvar/280676 ^@ NM_005055.4(RAPSN):c.853_855delCAGinsTAA (p.Gln285Ter) http://identifiers.org/clinvar/280656 ^@ NM_007373.3(SHOC2):c.7A>G (p.Ser3Gly) http://identifiers.org/clinvar/279921 ^@ NM_005343.3(HRAS):c.35_36delGCinsTA (p.Gly12Val) http://identifiers.org/clinvar/280384 ^@ NM_019066.4(MAGEL2):c.2163C>A (p.Cys721Ter) http://identifiers.org/clinvar/280673 ^@ NM_018076.4(ARMC4):c.857_858delGA (p.Arg286Lysfs) http://identifiers.org/clinvar/280477 ^@ NM_018451.4(CENPJ):c.129_130delGA (p.Lys44Alafs) http://identifiers.org/clinvar/280741 ^@ NM_016628.4(WAC):c.851dupG (p.Ala285Serfs) http://identifiers.org/clinvar/280917 ^@ NM_130799.2(MEN1):c.446-2A>C http://identifiers.org/clinvar/280111 ^@ NM_007055.3(POLR3A):c.1740dupA (p.Val581Serfs) http://identifiers.org/clinvar/280065 ^@ NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) http://identifiers.org/clinvar/279835 ^@ NM_007078.2(LDB3):c.1225C>A (p.Gln409Lys) http://identifiers.org/clinvar/279958 ^@ NM_130838.1(UBE3A):c.1181_1187delGAAGAAA (p.Arg394Thrfs) http://identifiers.org/clinvar/280116 ^@ NM_024079.4(ALG8):c.1090C>T (p.Arg364Ter) http://identifiers.org/clinvar/280131 ^@ NM_001013703.3(EIF2AK4):c.560_564delAAGAA (p.Lys187Argfs) http://identifiers.org/clinvar/280355 ^@ NM_170665.3(ATP2A2):c.2058delC (p.Ile686Metfs) http://identifiers.org/clinvar/280037 ^@ NM_000070.2(CAPN3):c.802-9G>A http://identifiers.org/clinvar/280044 ^@ NM_000051.3(ATM):c.1139_1142dupACAG (p.Ser381Argfs) http://identifiers.org/clinvar/280038 ^@ NM_000070.2(CAPN3):c.1342C>T (p.Arg448Cys) http://identifiers.org/clinvar/280283 ^@ NM_002834.4(PTPN11):c.10C>G (p.Arg4Gly) http://identifiers.org/clinvar/279800 ^@ NM_014080.4(DUOX2):c.602dupG (p.Gln202Thrfs) http://identifiers.org/clinvar/280367 ^@ NM_002834.4(PTPN11):c.115G>A (p.Gly39Arg) http://identifiers.org/clinvar/279948 ^@ NM_002693.2(POLG):c.3014_3057del44 (p.Val1005Aspfs) http://identifiers.org/clinvar/280410 ^@ NM_002834.4(PTPN11):c.1004A>C (p.Gln335Pro) http://identifiers.org/clinvar/280927 ^@ NM_018451.4(CENPJ):c.40C>T (p.Gln14Ter) http://identifiers.org/clinvar/279906 ^@ NM_000192.3(TBX5):c.587C>A (p.Ser196Ter) http://identifiers.org/clinvar/279706 ^@ NM_000059.3(BRCA2):c.8113A>G (p.Ser2705Gly) http://identifiers.org/clinvar/280787 ^@ NM_000051.3(ATM):c.7010_7065dup56 (p.Ile2356Valfs) http://identifiers.org/clinvar/280090 ^@ NM_024570.3(RNASEH2B):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/279889 ^@ NM_003002.3(SDHD):c.53dupC (p.Leu19Serfs) http://identifiers.org/clinvar/279911 ^@ NM_000359.2(TGM1):c.877-2A>G http://identifiers.org/clinvar/280699 ^@ NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter) http://identifiers.org/clinvar/280561 ^@ NM_005249.4(FOXG1):c.797T>A (p.Ile266Asn) http://identifiers.org/clinvar/280267 ^@ NM_015335.4(MED13L):c.1336C>T (p.Gln446Ter) http://identifiers.org/clinvar/280784 ^@ NM_006939.3(SOS2):c.3968C>T (p.Pro1323Leu) http://identifiers.org/clinvar/279975 ^@ NM_000834.3(GRIN2B):c.1547A>G (p.Asn516Ser) http://identifiers.org/clinvar/280017 ^@ NM_002693.2(POLG):c.1433+1G>A http://identifiers.org/clinvar/280730 ^@ NM_001197104.1(KMT2A):c.3560A>T (p.Gln1187Leu) http://identifiers.org/clinvar/279988 ^@ NM_002693.2(POLG):c.202C>T (p.Gln68Ter) http://identifiers.org/clinvar/280923 ^@ NM_006939.3(SOS2):c.2978A>T (p.Asn993Ile) http://identifiers.org/clinvar/280700 ^@ NM_001271.3(CHD2):c.1481G>A (p.Trp494Ter) http://identifiers.org/clinvar/279722 ^@ NM_000719.6(CACNA1C):c.1673C>T (p.Thr558Met) http://identifiers.org/clinvar/280813 ^@ NM_006939.3(SOS2):c.2299G>A (p.Gly767Arg) http://identifiers.org/clinvar/280349 ^@ NM_001197104.1(KMT2A):c.3991C>T (p.Gln1331Ter) http://identifiers.org/clinvar/280749 ^@ NM_015915.4(ATL1):c.478T>C (p.Ser160Pro) http://identifiers.org/clinvar/280667 ^@ NM_001197104.1(KMT2A):c.9910_9911delCT (p.Leu3304Valfs) http://identifiers.org/clinvar/280517 ^@ NM_000161.2(GCH1):c.159G>A (p.Trp53Ter) http://identifiers.org/clinvar/279922 ^@ NM_005188.3(CBL):c.839G>A (p.Arg280Gln) http://identifiers.org/clinvar/280107 ^@ NM_005050.3(ABCD4):c.542+1G>T http://identifiers.org/clinvar/280204 ^@ NM_005188.3(CBL):c.1942A>C (p.Ser648Arg) http://identifiers.org/clinvar/280422 ^@ NM_014239.3(EIF2B2):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/280322 ^@ NM_213599.2(ANO5):c.304_308delAAAGA (p.Lys102Valfs) http://identifiers.org/clinvar/279725 ^@ NM_021098.2(CACNA1H):c.830C>T (p.Pro277Leu) http://identifiers.org/clinvar/279915 ^@ NM_130838.1(UBE3A):c.2511_2514delGAGA (p.Glu837Aspfs) http://identifiers.org/clinvar/280581 ^@ NM_000548.4(TSC2):c.930T>A (p.Tyr310Ter) http://identifiers.org/clinvar/279968 ^@ NM_130838.1(UBE3A):c.2409dupT (p.Ile804Tyrfs) http://identifiers.org/clinvar/279806 ^@ NM_139241.3(FGD4):c.1329C>A (p.Tyr443Ter) http://identifiers.org/clinvar/280064 ^@ NM_000062.2(SERPING1):c.52-1G>A http://identifiers.org/clinvar/280014 ^@ NM_004572.3(PKP2):c.658C>T (p.Gln220Ter) http://identifiers.org/clinvar/279702 ^@ NM_004183.3(BEST1):c.103G>A (p.Glu35Lys) http://identifiers.org/clinvar/280731 ^@ NM_152641.3(ARID2):c.1338_1341delAGTG (p.Leu446Phefs) http://identifiers.org/clinvar/280168 ^@ NM_130838.1(UBE3A):c.660C>A (p.Tyr220Ter) http://identifiers.org/clinvar/280767 ^@ NM_001844.4(COL2A1):c.2825G>A (p.Gly942Asp) http://identifiers.org/clinvar/280201 ^@ NM_130838.1(UBE3A):c.93_94dupTG (p.Ala32Valfs) http://identifiers.org/clinvar/280798 ^@ NM_000548.4(TSC2):c.5203dupA (p.Ile1735Asnfs) http://identifiers.org/clinvar/280881 ^@ NM_002225.3(IVD):c.716C>T (p.Thr239Ile) http://identifiers.org/clinvar/279860 ^@ NM_024675.3(PALB2):c.601dupA (p.Ser201Lysfs) http://identifiers.org/clinvar/280883 ^@ NM_001844.4(COL2A1):c.2618G>A (p.Gly873Glu) http://identifiers.org/clinvar/280317 ^@ NM_001042432.1(CLN3):c.816_817delGG (p.Glu273Lysfs) http://identifiers.org/clinvar/280522 ^@ NM_001844.4(COL2A1):c.2617G>T (p.Gly873Trp) http://identifiers.org/clinvar/280888 ^@ NM_145239.2(PRRT2):c.324_325delAG (p.Ser110Glnfs) http://identifiers.org/clinvar/280234 ^@ NM_005609.3(PYGM):c.1466dupC (p.Arg490Serfs) http://identifiers.org/clinvar/280847 ^@ NM_014080.4(DUOX2):c.2907dupG (p.Thr970Aspfs) http://identifiers.org/clinvar/280745 ^@ NM_001844.4(COL2A1):c.1546G>A (p.Gly516Ser) http://identifiers.org/clinvar/280217 ^@ NM_033028.4(BBS4):c.1106+2T>A http://identifiers.org/clinvar/280822 ^@ NM_145239.2(PRRT2):c.769_778delGAGGGGGGTG (p.Glu257Lysfs) http://identifiers.org/clinvar/280154 ^@ NM_003482.3(KMT2D):c.9367delG (p.Glu3123Argfs) http://identifiers.org/clinvar/280202 ^@ NM_000391.3(TPP1):c.509-1G>T http://identifiers.org/clinvar/280135 ^@ NM_003482.3(KMT2D):c.1300delC (p.Leu434Terfs) http://identifiers.org/clinvar/279901 ^@ NM_006946.2(SPTBN2):c.1261_1263delGAG (p.Glu421del) http://identifiers.org/clinvar/279963 ^@ NM_004380.2(CREBBP):c.4439A>G (p.Asp1480Gly) http://identifiers.org/clinvar/279843 ^@ NM_002335.3(LRP5):c.98C>T (p.Pro33Leu) http://identifiers.org/clinvar/280335 ^@ NM_015069.4(ZNF423):c.3165dupC (p.Asn1056Glnfs) http://identifiers.org/clinvar/280016 ^@ NM_002693.2(POLG):c.2870C>T (p.Ala957Val) http://identifiers.org/clinvar/279745 ^@ NM_004360.4(CDH1):c.1008+4delA http://identifiers.org/clinvar/279982 ^@ NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) http://identifiers.org/clinvar/279746 ^@ NM_004360.4(CDH1):c.1700C>T (p.Ala567Val) http://identifiers.org/clinvar/279844 ^@ NM_002335.3(LRP5):c.2234C>T (p.Ala745Val) http://identifiers.org/clinvar/280136 ^@ NM_003482.3(KMT2D):c.401-3A>G http://identifiers.org/clinvar/280243 ^@ NM_024678.5(NARS2):c.822+2T>G http://identifiers.org/clinvar/280443 ^@ NM_001271.3(CHD2):c.271G>T (p.Glu91Ter) http://identifiers.org/clinvar/280470 ^@ NM_014191.3(SCN8A):c.4441A>G (p.Met1481Val) http://identifiers.org/clinvar/280261 ^@ NM_005251.2(FOXC2):c.988dupC (p.Gln330Profs) http://identifiers.org/clinvar/280281 ^@ NM_001142864.3(PIEZO1):c.2035G>T (p.Glu679Ter) http://identifiers.org/clinvar/279742 ^@ NM_004933.2(CDH15):c.445C>T (p.Arg149Trp) http://identifiers.org/clinvar/279726 ^@ NM_021098.2(CACNA1H):c.5809G>A (p.Val1937Met) http://identifiers.org/clinvar/279743 ^@ NM_004933.2(CDH15):c.2231C>T (p.Ser744Leu) http://identifiers.org/clinvar/280884 ^@ NM_014714.3(IFT140):c.1010-1G>A http://identifiers.org/clinvar/280842 ^@ NM_013275.5(ANKRD11):c.7714-2A>G http://identifiers.org/clinvar/280870 ^@ NM_001171.5(ABCC6):c.3614_3615delCT (p.Ser1205Cysfs) http://identifiers.org/clinvar/280655 ^@ NM_013275.5(ANKRD11):c.7083dupC (p.Thr2362Hisfs) http://identifiers.org/clinvar/280144 ^@ NM_004970.2(IGFALS):c.1291delT (p.Trp431Glyfs) http://identifiers.org/clinvar/280940 ^@ NM_144670.5(A2ML1):c.2300G>C (p.Ser767Thr) http://identifiers.org/clinvar/280663 ^@ NM_013275.5(ANKRD11):c.4372_4375delGAGA (p.Glu1458Argfs) http://identifiers.org/clinvar/280094 ^@ NM_014363.5(SACS):c.9508C>T (p.Arg3170Ter) http://identifiers.org/clinvar/280323 ^@ NM_000548.4(TSC2):c.1195G>T (p.Glu399Ter) http://identifiers.org/clinvar/280247 ^@ NM_013275.5(ANKRD11):c.2500delT (p.Ser834Leufs) http://identifiers.org/clinvar/280792 ^@ NM_004589.3(SCO1):c.551delT (p.Val184Glyfs) http://identifiers.org/clinvar/280914 ^@ NM_000548.4(TSC2):c.2579_2580delTT (p.Phe860Cysfs) http://identifiers.org/clinvar/280809 ^@ NM_014363.5(SACS):c.9305T>A (p.Leu3102Ter) http://identifiers.org/clinvar/279853 ^@ NM_052845.3(MMAB):c.568C>G (p.Arg190Gly) http://identifiers.org/clinvar/280490 ^@ NM_018451.4(CENPJ):c.1029delA (p.Glu344Asnfs) http://identifiers.org/clinvar/280278 ^@ NM_002834.4(PTPN11):c.369G>T (p.Glu123Asp) http://identifiers.org/clinvar/280750 ^@ NM_000059.3(BRCA2):c.5557dupT (p.Cys1853Leufs) http://identifiers.org/clinvar/280238 ^@ NM_144997.5(FLCN):c.1540A>T (p.Lys514Ter) http://identifiers.org/clinvar/280939 ^@ NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) http://identifiers.org/clinvar/280182 ^@ NM_000267.3(NF1):c.4317dupT (p.Met1440Tyrfs) http://identifiers.org/clinvar/279918 ^@ NM_002834.4(PTPN11):c.1649C>T (p.Ala550Val) http://identifiers.org/clinvar/280497 ^@ NM_000458.3(HNF1B):c.809+1G>T http://identifiers.org/clinvar/280392 ^@ NM_000192.3(TBX5):c.466delC (p.Gln156Argfs) http://identifiers.org/clinvar/279705 ^@ NM_007294.3(BRCA1):c.4009G>C (p.Asp1337His) http://identifiers.org/clinvar/280603 ^@ NM_002336.2(LRP6):c.2994+2T>C http://identifiers.org/clinvar/279930 ^@ NM_004643.3(PABPN1):c.15_23dupGGCGGCGGC (p.Ala11_Gly12insAlaAlaAla) http://identifiers.org/clinvar/280185 ^@ NM_000548.4(TSC2):c.2640-2A>G http://identifiers.org/clinvar/280126 ^@ NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) http://identifiers.org/clinvar/280618 ^@ NM_000548.4(TSC2):c.4544delA (p.Asn1515Thrfs) http://identifiers.org/clinvar/280332 ^@ NM_003482.3(KMT2D):c.16184G>A (p.Trp5395Ter) http://identifiers.org/clinvar/280756 ^@ NM_000088.3(COL1A1):c.3415G>A (p.Gly1139Ser) http://identifiers.org/clinvar/280132 ^@ NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) http://identifiers.org/clinvar/280233 ^@ NM_004643.3(PABPN1):c.18_23dupGGCGGC (p.Ala11_Gly12insAlaAla) http://identifiers.org/clinvar/280605 ^@ NM_003482.3(KMT2D):c.13999+1G>A http://identifiers.org/clinvar/279910 ^@ NM_000359.2(TGM1):c.379C>T (p.Arg127Ter) http://identifiers.org/clinvar/280330 ^@ NM_003482.3(KMT2D):c.8650dupG (p.Val2884Glyfs) http://identifiers.org/clinvar/279724 ^@ NM_018896.4(CACNA1G):c.6710C>A (p.Pro2237His) http://identifiers.org/clinvar/280133 ^@ NM_003482.3(KMT2D):c.5707C>T (p.Arg1903Ter) http://identifiers.org/clinvar/279711 ^@ NM_032043.2(BRIP1):c.2874A>T (p.Leu958=) http://identifiers.org/clinvar/280134 ^@ NM_003482.3(KMT2D):c.4693+1G>T http://identifiers.org/clinvar/280434 ^@ NM_000548.4(TSC2):c.4546_4549delAAGC (p.Lys1516Glnfs) http://identifiers.org/clinvar/280669 ^@ NM_001009944.2(PKD1):c.1722+2T>C http://identifiers.org/clinvar/280810 ^@ NM_000359.2(TGM1):c.184G>T (p.Gly62Ter) http://identifiers.org/clinvar/279881 ^@ NM_002905.3(RDH5):c.160C>T (p.Arg54Ter) http://identifiers.org/clinvar/279708 ^@ NM_032043.2(BRIP1):c.878A>G (p.Asn293Ser) http://identifiers.org/clinvar/280220 ^@ NM_001079668.2(NKX2-1):c.637C>T (p.Gln213Ter) http://identifiers.org/clinvar/280637 ^@ NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile) http://identifiers.org/clinvar/280818 ^@ NM_006939.3(SOS2):c.2443A>G (p.Asn815Asp) http://identifiers.org/clinvar/280301 ^@ NM_002734.4(PRKAR1A):c.360delA (p.Asp121Ilefs) http://identifiers.org/clinvar/279798 ^@ NM_000785.3(CYP27B1):c.1319_1325dupCCCACCC (p.Phe443Profs) http://identifiers.org/clinvar/280602 ^@ NM_004960.3(FUS):c.1510_1514dupGGTGG (p.Phe506Valfs) http://identifiers.org/clinvar/279897 ^@ NM_000346.3(SOX9):c.442G>T (p.Glu148Ter) http://identifiers.org/clinvar/280109 ^@ NM_004960.3(FUS):c.1572G>C (p.Arg524Ser) http://identifiers.org/clinvar/280779 ^@ NM_144670.5(A2ML1):c.4097T>C (p.Ile1366Thr) http://identifiers.org/clinvar/280704 ^@ NM_000546.5(TP53):c.257_279del23 (p.Ala86Valfs) http://identifiers.org/clinvar/279849 ^@ NM_000243.2(MEFV):c.1341G>C (p.Lys447Asn) http://identifiers.org/clinvar/280359 ^@ NM_000180.3(GUCY2D):c.3139-1G>C http://identifiers.org/clinvar/279848 ^@ NM_000243.2(MEFV):c.932C>T (p.Ala311Val) http://identifiers.org/clinvar/280130 ^@ NM_024110.4(CARD14):c.349+1G>A http://identifiers.org/clinvar/279887 ^@ NM_002968.2(SALL1):c.870_871dupTC (p.Gln291Leufs) http://identifiers.org/clinvar/280069 ^@ NM_000271.4(NPC1):c.3613dupA (p.Thr1205Asnfs) http://identifiers.org/clinvar/279863 ^@ NM_000282.3(PCCA):c.1284+1G>A http://identifiers.org/clinvar/280815 ^@ NM_019066.4(MAGEL2):c.2070dupT (p.Ala691Cysfs) http://identifiers.org/clinvar/280658 ^@ NM_015272.4(RPGRIP1L):c.2643_2671del29 (p.Asn881Lysfs) http://identifiers.org/clinvar/280389 ^@ NM_130838.1(UBE3A):c.1184_1193dupGAAACAAGAA (p.Gly399Lysfs) http://identifiers.org/clinvar/279885 ^@ NM_015272.4(RPGRIP1L):c.1489G>T (p.Glu497Ter) http://identifiers.org/clinvar/280039 ^@ NM_000070.2(CAPN3):c.2185-2A>G http://identifiers.org/clinvar/280869 ^@ NM_006565.3(CTCF):c.610dupA (p.Thr204Asnfs) http://identifiers.org/clinvar/280772 ^@ NM_015295.2(SMCHD1):c.1030C>T (p.Arg344Ter) http://identifiers.org/clinvar/280702 ^@ NM_000138.4(FBN1):c.6625G>T (p.Glu2209Ter) http://identifiers.org/clinvar/280525 ^@ NM_001845.5(COL4A1):c.3977G>T (p.Gly1326Val) http://identifiers.org/clinvar/279842 ^@ NM_014646.2(LPIN2):c.1348G>A (p.Ala450Thr) http://identifiers.org/clinvar/280563 ^@ NM_001942.3(DSG1):c.724C>T (p.Arg242Ter) http://identifiers.org/clinvar/280236 ^@ NM_014363.5(SACS):c.4877_4880delGCTG (p.Gly1626Valfs) http://identifiers.org/clinvar/280445 ^@ NM_030632.2(ASXL3):c.1346delT (p.Val449Glufs) http://identifiers.org/clinvar/279908 ^@ NM_003244.3(TGIF1):c.778delC (p.Arg260Glyfs) http://identifiers.org/clinvar/280868 ^@ NM_000455.4(STK11):c.326delA (p.Asn109Metfs) http://identifiers.org/clinvar/280865 ^@ NM_000138.4(FBN1):c.2598_2601dupCAAT (p.Gly868Glnfs) http://identifiers.org/clinvar/280179 ^@ NM_001271043.2(NFIX):c.1140dupC (p.Ser381Leufs) http://identifiers.org/clinvar/280189 ^@ NM_000138.4(FBN1):c.2114-2A>C http://identifiers.org/clinvar/279951 ^@ NM_001127221.1(CACNA1A):c.4503_4505delCTT (p.Phe1502del) http://identifiers.org/clinvar/280645 ^@ NM_014363.5(SACS):c.4598C>G (p.Ser1533Ter) http://identifiers.org/clinvar/280762 ^@ NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) http://identifiers.org/clinvar/280739 ^@ NM_013275.5(ANKRD11):c.7552C>T (p.Gln2518Ter) http://identifiers.org/clinvar/280249 ^@ NM_133644.3(GTPBP3):c.1145delT (p.Leu382Argfs) http://identifiers.org/clinvar/280058 ^@ NM_000138.4(FBN1):c.2023_2026delTTTG (p.Phe675Valfs) http://identifiers.org/clinvar/280353 ^@ NM_013275.5(ANKRD11):c.5790C>G (p.Tyr1930Ter) http://identifiers.org/clinvar/280059 ^@ NM_000138.4(FBN1):c.1957_1958delGT (p.Val653Terfs) http://identifiers.org/clinvar/280184 ^@ NM_018451.4(CENPJ):c.1696C>T (p.Arg566Ter) http://identifiers.org/clinvar/280307 ^@ NM_000138.4(FBN1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/279826 ^@ NM_007059.3(KPTN):c.597_598dupTA (p.Ser200Ilefs) http://identifiers.org/clinvar/280375 ^@ NM_002693.2(POLG):c.925C>T (p.Arg309Cys) http://identifiers.org/clinvar/280712 ^@ NM_000214.2(JAG1):c.1680C>A (p.Cys560Ter) http://identifiers.org/clinvar/280302 ^@ NM_198525.2(KIF7):c.1106delC (p.Ala369Glyfs) http://identifiers.org/clinvar/280608 ^@ NM_000214.2(JAG1):c.311delG (p.Gly104Alafs) http://identifiers.org/clinvar/280288 ^@ NM_013275.5(ANKRD11):c.4384dupA (p.Arg1462Lysfs) http://identifiers.org/clinvar/280417 ^@ NM_001271.3(CHD2):c.1652_1653delAG (p.Glu551Valfs) http://identifiers.org/clinvar/279678 ^@ NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) http://identifiers.org/clinvar/280930 ^@ NM_001271.3(CHD2):c.3214C>T (p.Arg1072Ter) http://identifiers.org/clinvar/280560 ^@ NM_004975.3(KCNB1):c.1108T>C (p.Trp370Arg) http://identifiers.org/clinvar/280891 ^@ NM_000548.4(TSC2):c.1957A>T (p.Arg653Ter) http://identifiers.org/clinvar/280686 ^@ NM_000135.2(FANCA):c.4011-1G>A http://identifiers.org/clinvar/280707 ^@ NM_000548.4(TSC2):c.3565delC (p.Leu1189Cysfs) http://identifiers.org/clinvar/280660 ^@ NM_000382.2(ALDH3A2):c.574dupA (p.Ile192Asnfs) http://identifiers.org/clinvar/280403 ^@ NM_004975.3(KCNB1):c.820dupT (p.Tyr274Leufs) http://identifiers.org/clinvar/280816 ^@ NM_177559.2(CSNK2A1):c.139C>G (p.Arg47Gly) http://identifiers.org/clinvar/280596 ^@ NM_000548.4(TSC2):c.4183C>T (p.Gln1395Ter) http://identifiers.org/clinvar/280874 ^@ NM_015339.4(ADNP):c.2378T>G (p.Leu793Ter) http://identifiers.org/clinvar/280758 ^@ NM_000548.4(TSC2):c.4495_4499delTTCGT (p.Phe1499Valfs) http://identifiers.org/clinvar/280043 ^@ NM_172107.3(KCNQ2):c.1229delC (p.Pro410Argfs) http://identifiers.org/clinvar/280851 ^@ NM_024675.3(PALB2):c.2029delG (p.Val677Phefs) http://identifiers.org/clinvar/280397 ^@ NM_172107.3(KCNQ2):c.297delG (p.Phe100Serfs) http://identifiers.org/clinvar/280419 ^@ NM_000267.3(NF1):c.4270-2delA http://identifiers.org/clinvar/280924 ^@ NM_001958.3(EEF1A2):c.370G>A (p.Glu124Lys) http://identifiers.org/clinvar/280211 ^@ NM_000286.2(PEX12):c.51_54dupGCCA (p.Ser19Alafs) http://identifiers.org/clinvar/280604 ^@ NM_001396.3(DYRK1A):c.1013_1020delATGACCTT (p.Tyr338Cysfs) http://identifiers.org/clinvar/279674 ^@ NM_000383.3(AIRE):c.205_208dupCAGG (p.Asp70Alafs) http://identifiers.org/clinvar/280050 ^@ NM_007294.3(BRCA1):c.2488_2504dup17 (p.His835Glnfs) http://identifiers.org/clinvar/280549 ^@ NM_145239.2(PRRT2):c.191_207dup17 (p.Glu70Argfs) http://identifiers.org/clinvar/280188 ^@ NM_001849.3(COL6A2):c.186dupC (p.Thr63Hisfs) http://identifiers.org/clinvar/280105 ^@ NM_000023.3(SGCA):c.530delC (p.Ser177Leufs) http://identifiers.org/clinvar/279894 ^@ NM_004782.3(SNAP29):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/280840 ^@ NM_004782.3(SNAP29):c.85C>T (p.Arg29Ter) http://identifiers.org/clinvar/280358 ^@ NM_145239.2(PRRT2):c.210_211delAA (p.Glu70Aspfs) http://identifiers.org/clinvar/279710 ^@ NM_032043.2(BRIP1):c.2726T>G (p.Leu909Arg) http://identifiers.org/clinvar/280022 ^@ NM_145239.2(PRRT2):c.323_324delCA (p.Thr108Serfs) http://identifiers.org/clinvar/279932 ^@ NM_004782.3(SNAP29):c.354dupG (p.Leu119Alafs) http://identifiers.org/clinvar/279709 ^@ NM_032043.2(BRIP1):c.1474-7C>A http://identifiers.org/clinvar/280158 ^@ NM_006767.3(LZTR1):c.202C>A (p.Arg68Ser) http://identifiers.org/clinvar/279750 ^@ NM_018451.4(CENPJ):c.289dupA (p.Thr97Asnfs) http://identifiers.org/clinvar/280342 ^@ NM_006767.3(LZTR1):c.1396C>T (p.Arg466Trp) http://identifiers.org/clinvar/280091 ^@ NM_020366.3(RPGRIP1):c.2668C>T (p.Arg890Ter) http://identifiers.org/clinvar/280616 ^@ NM_006662.2(SRCAP):c.833delC (p.Pro278Leufs) http://identifiers.org/clinvar/280207 ^@ NM_007194.3(CHEK2):c.1209dupG (p.Tyr404Valfs) http://identifiers.org/clinvar/279765 ^@ NM_007194.3(CHEK2):c.200C>A (p.Ser67Tyr) http://identifiers.org/clinvar/280110 ^@ NM_004960.3(FUS):c.1574C>T (p.Pro525Leu) http://identifiers.org/clinvar/280617 ^@ NM_020461.3(TUBGCP6):c.1833+1G>A http://identifiers.org/clinvar/280284 ^@ NM_004380.2(CREBBP):c.6241C>T (p.Gln2081Ter) http://identifiers.org/clinvar/279892 ^@ NM_033517.1(SHANK3):c.3764_3776delGGGCCCAGCCCCC (p.Arg1255Leufs) http://identifiers.org/clinvar/280728 ^@ NM_004380.2(CREBBP):c.3609+1G>A http://identifiers.org/clinvar/279695 ^@ NM_004655.3(AXIN2):c.1393C>T (p.Arg465Cys) http://identifiers.org/clinvar/280830 ^@ NM_001170629.1(CHD8):c.2992C>T (p.Gln998Ter) http://identifiers.org/clinvar/280176 ^@ NM_033517.1(SHANK3):c.4565delT (p.Leu1522Argfs) http://identifiers.org/clinvar/280229 ^@ NM_000061.2(BTK):c.469C>T (p.Gln157Ter) http://identifiers.org/clinvar/279909 ^@ NM_000359.2(TGM1):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/280003 ^@ NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) http://identifiers.org/clinvar/279680 ^@ NM_007077.4(AP4S1):c.294+1G>T http://identifiers.org/clinvar/280550 ^@ NM_178153.2(DCX):c.467dupT (p.Met156Ilefs) http://identifiers.org/clinvar/279877 ^@ NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter) http://identifiers.org/clinvar/280729 ^@ NM_000276.3(OCRL):c.2470-2A>G http://identifiers.org/clinvar/280210 ^@ NM_002734.4(PRKAR1A):c.374dupT (p.Met125Ilefs) http://identifiers.org/clinvar/280635 ^@ NM_001079668.2(NKX2-1):c.512delG (p.Gly171Alafs) http://identifiers.org/clinvar/279813 ^@ NM_000213.4(ITGB4):c.3793+2dupT http://identifiers.org/clinvar/279979 ^@ NM_000194.2(HPRT1):c.145C>T (p.Leu49Phe) http://identifiers.org/clinvar/280551 ^@ NM_003611.2(OFD1):c.72C>A (p.Tyr24Ter) http://identifiers.org/clinvar/280861 ^@ NM_003611.2(OFD1):c.2656delC (p.Gln886Lysfs) http://identifiers.org/clinvar/279962 ^@ NM_000546.5(TP53):c.983dupT (p.Thr329Hisfs) http://identifiers.org/clinvar/280453 ^@ NM_000252.2(MTM1):c.1611C>A (p.Tyr537Ter) http://identifiers.org/clinvar/280222 ^@ NM_004380.2(CREBBP):c.2841dupA (p.Gln948Thrfs) http://identifiers.org/clinvar/280237 ^@ NM_003491.3(NAA10):c.384T>G (p.Phe128Leu) http://identifiers.org/clinvar/280589 ^@ NM_020988.2(GNAO1):c.119G>A (p.Gly40Glu) http://identifiers.org/clinvar/280578 ^@ NM_001614.3(ACTG1):c.863A>G (p.Asp288Gly) http://identifiers.org/clinvar/280141 ^@ NM_001297.4(CNGB1):c.3150delG (p.Phe1051Leufs) http://identifiers.org/clinvar/280853 ^@ NM_001258221.1(KCTD1):c.97C>T (p.His33Tyr) http://identifiers.org/clinvar/280897 ^@ NM_006939.3(SOS2):c.572C>T (p.Pro191Leu) http://identifiers.org/clinvar/279694 ^@ NM_030632.2(ASXL3):c.3349C>T (p.Arg1117Ter) http://identifiers.org/clinvar/280496 ^@ NM_021728.3(OTX2):c.226C>T (p.Arg76Ter) http://identifiers.org/clinvar/280697 ^@ NM_000117.2(EMD):c.60delC (p.Asn20Lysfs) http://identifiers.org/clinvar/280644 ^@ NM_000117.2(EMD):c.103G>T (p.Glu35Ter) http://identifiers.org/clinvar/280013 ^@ NM_004614.4(TK2):c.103C>T (p.Gln35Ter) http://identifiers.org/clinvar/279907 ^@ NM_001083962.1(TCF4):c.655G>A (p.Asp219Asn) http://identifiers.org/clinvar/280480 ^@ NM_013275.5(ANKRD11):c.3562C>T (p.Arg1188Ter) http://identifiers.org/clinvar/280890 ^@ NM_003159.2(CDKL5):c.2522dupA (p.Leu842Valfs) http://identifiers.org/clinvar/279920 ^@ NM_021074.4(NDUFV2):c.120+5_120+8delGTAA http://identifiers.org/clinvar/280537 ^@ NM_013275.5(ANKRD11):c.2589dupA (p.Asp864Argfs) http://identifiers.org/clinvar/280378 ^@ NM_000455.4(STK11):c.717G>A (p.Trp239Ter) http://identifiers.org/clinvar/280622 ^@ NM_000284.3(PDHA1):c.954dupG (p.Leu319Alafs) http://identifiers.org/clinvar/280030 ^@ NM_004586.2(RPS6KA3):c.205G>T (p.Glu69Ter) http://identifiers.org/clinvar/280583 ^@ NM_013275.5(ANKRD11):c.2329G>T (p.Glu777Ter) http://identifiers.org/clinvar/280621 ^@ NM_001271043.2(NFIX):c.690G>A (p.Trp230Ter) http://identifiers.org/clinvar/280628 ^@ NM_014927.4(CNKSR2):c.2340_2344delCTTAC (p.His782Serfs) http://identifiers.org/clinvar/280440 ^@ NM_001271043.2(NFIX):c.1111dupC (p.Arg371Profs) http://identifiers.org/clinvar/280620 ^@ NM_013275.5(ANKRD11):c.2197C>T (p.Arg733Ter) http://identifiers.org/clinvar/280448 ^@ NM_001127221.1(CACNA1A):c.2130G>T (p.Leu710Phe) http://identifiers.org/clinvar/280345 ^@ NM_000444.5(PHEX):c.779dupT (p.Leu260Phefs) http://identifiers.org/clinvar/280911 ^@ NM_013275.5(ANKRD11):c.1201_1204delAAAG (p.Lys401Argfs) http://identifiers.org/clinvar/280174 ^@ NM_152594.2(SPRED1):c.807T>G (p.Asn269Lys) http://identifiers.org/clinvar/280575 ^@ NM_003119.3(SPG7):c.679C>T (p.Arg227Ter) http://identifiers.org/clinvar/280242 ^@ NM_000138.4(FBN1):c.6380-2A>C http://identifiers.org/clinvar/279810 ^@ NM_144997.5(FLCN):c.171dupG (p.Met58Aspfs) http://identifiers.org/clinvar/280057 ^@ NM_000138.4(FBN1):c.6186T>G (p.Tyr2062Ter) http://identifiers.org/clinvar/280370 ^@ NM_000444.5(PHEX):c.1309dupG (p.Glu437Glyfs) http://identifiers.org/clinvar/280055 ^@ NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) http://identifiers.org/clinvar/280706 ^@ NM_001083961.1(WDR62):c.2467+2T>G http://identifiers.org/clinvar/280653 ^@ NM_000458.3(HNF1B):c.406dupC (p.Gln136Profs) http://identifiers.org/clinvar/280074 ^@ NM_000444.5(PHEX):c.1543C>T (p.Gln515Ter) http://identifiers.org/clinvar/280664 ^@ NM_004247.3(EFTUD2):c.1669C>T (p.Gln557Ter) http://identifiers.org/clinvar/280670 ^@ NM_000444.5(PHEX):c.1685dupG (p.Thr563Asnfs) http://identifiers.org/clinvar/280287 ^@ NM_000138.4(FBN1):c.5917+1G>A http://identifiers.org/clinvar/279998 ^@ NM_030662.3(MAP2K2):c.183A>C (p.Lys61Asn) http://identifiers.org/clinvar/280324 ^@ NM_000088.3(COL1A1):c.4110C>A (p.Cys1370Ter) http://identifiers.org/clinvar/279926 ^@ NM_030662.3(MAP2K2):c.-42C>T http://identifiers.org/clinvar/280489 ^@ NM_000444.5(PHEX):c.1701-2A>G http://identifiers.org/clinvar/280178 ^@ NM_152296.4(ATP1A3):c.2840G>A (p.Gly947Glu) http://identifiers.org/clinvar/280649 ^@ NM_000088.3(COL1A1):c.2119G>A (p.Gly707Ser) http://identifiers.org/clinvar/280936 ^@ NM_000214.2(JAG1):c.2370delC (p.Cys791Valfs) http://identifiers.org/clinvar/280710 ^@ NM_000088.3(COL1A1):c.1875+5G>C http://identifiers.org/clinvar/280585 ^@ NM_000444.5(PHEX):c.1713T>G (p.Tyr571Ter) http://identifiers.org/clinvar/280077 ^@ NM_000444.5(PHEX):c.1779_1782dupTGAT (p.Lys595Terfs) http://identifiers.org/clinvar/280717 ^@ NM_000088.3(COL1A1):c.197_199delGCAinsTGTTGCC (p.Gly66Valfs) http://identifiers.org/clinvar/280540 ^@ NM_000214.2(JAG1):c.349dupC (p.Arg117Profs) http://identifiers.org/clinvar/280534 ^@ NM_177550.4(SLC13A5):c.997C>T (p.Arg333Ter) http://identifiers.org/clinvar/280081 ^@ NM_000444.5(PHEX):c.1936_1939dupGATA (p.Asn647Argfs) http://identifiers.org/clinvar/279814 ^@ NM_000213.4(ITGB4):c.600dupC (p.Phe201Leufs) http://identifiers.org/clinvar/280841 ^@ NM_015338.5(ASXL1):c.1282C>T (p.Gln428Ter) http://identifiers.org/clinvar/279729 ^@ NM_138793.3(CANT1):c.56G>A (p.Arg19Gln) http://identifiers.org/clinvar/280245 ^@ NM_015338.5(ASXL1):c.1544_1545delTG (p.Val515Glyfs) http://identifiers.org/clinvar/280570 ^@ NM_000138.4(FBN1):c.1179_1180dupGG (p.Val394Glyfs) http://identifiers.org/clinvar/280626 ^@ NM_000022.3(ADA):c.532dupG (p.Val178Glyfs) http://identifiers.org/clinvar/280279 ^@ NM_000138.4(FBN1):c.539-1G>T http://identifiers.org/clinvar/280535 ^@ NM_015339.4(ADNP):c.790C>T (p.Arg264Ter) http://identifiers.org/clinvar/280613 ^@ NM_130810.3(DNAAF4):c.1047+1G>A http://identifiers.org/clinvar/279891 ^@ NM_000199.3(SGSH):c.1139A>G (p.Gln380Arg) http://identifiers.org/clinvar/280446 ^@ NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) http://identifiers.org/clinvar/280085 ^@ NM_000444.5(PHEX):c.2060_2063dupGTTA (p.Tyr688Terfs) http://identifiers.org/clinvar/280582 ^@ NM_000781.2(CYP11A1):c.425+1G>A http://identifiers.org/clinvar/279873 ^@ NM_000444.5(PHEX):c.2239C>T (p.Arg747Ter) http://identifiers.org/clinvar/279994 ^@ NM_144773.3(PROKR2):c.458+1G>A http://identifiers.org/clinvar/280396 ^@ NM_173495.2(PTCHD1):c.1547T>A (p.Leu516Ter) http://identifiers.org/clinvar/280119 ^@ NM_001139.2(ALOX12B):c.252C>A (p.Cys84Ter) http://identifiers.org/clinvar/279817 ^@ NM_172107.3(KCNQ2):c.2377G>T (p.Val793Leu) http://identifiers.org/clinvar/280601 ^@ NM_014271.3(IL1RAPL1):c.703+1G>A http://identifiers.org/clinvar/280885 ^@ NM_172107.3(KCNQ2):c.992delA (p.Lys331Argfs) http://identifiers.org/clinvar/280418 ^@ NM_004006.2(DMD):c.10594_10595delGAinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG (p.Glu3532Phefs) http://identifiers.org/clinvar/279677 ^@ NM_021628.2(ALOXE3):c.1889C>T (p.Pro630Leu) http://identifiers.org/clinvar/280633 ^@ NM_004006.2(DMD):c.1288A>T (p.Arg430Ter) http://identifiers.org/clinvar/280720 ^@ NM_001614.3(ACTG1):c.755A>T (p.Asn252Ile) http://identifiers.org/clinvar/279797 ^@ NM_000397.3(CYBB):c.1272G>A (p.Trp424Ter) http://identifiers.org/clinvar/279961 ^@ NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) http://identifiers.org/clinvar/279953 ^@ NM_005993.4(TBCD):c.1423G>A (p.Ala475Thr) http://identifiers.org/clinvar/279756 ^@ NM_001271.3(CHD2):c.185G>A (p.Ser62Asn) http://identifiers.org/clinvar/280600 ^@ NM_017745.5(BCOR):c.4834dupC (p.Leu1612Profs) http://identifiers.org/clinvar/280528 ^@ NM_001271.3(CHD2):c.3067-2A>G http://identifiers.org/clinvar/280538 ^@ NM_017745.5(BCOR):c.3108dupA (p.Ala1037Serfs) http://identifiers.org/clinvar/280610 ^@ NM_001271.3(CHD2):c.3220delC (p.Arg1074Glyfs) http://identifiers.org/clinvar/280203 ^@ NM_021140.3(KDM6A):c.2150dupA (p.Ser718Glufs) http://identifiers.org/clinvar/280318 ^@ NM_001271.3(CHD2):c.4413+1G>A http://identifiers.org/clinvar/280866 ^@ NM_007075.3(WDR45):c.670_671delCA (p.Gln224Ilefs) http://identifiers.org/clinvar/280340 ^@ NM_001271.3(CHD2):c.4706_4709delAAGA (p.Lys1569Thrfs) http://identifiers.org/clinvar/280776 ^@ NM_015295.2(SMCHD1):c.848A>G (p.Tyr283Cys) http://identifiers.org/clinvar/279931 ^@ NM_172107.3(KCNQ2):c.629G>A (p.Arg210His) http://identifiers.org/clinvar/280230 ^@ NM_001943.4(DSG2):c.495dupT (p.Gly166Trpfs) http://identifiers.org/clinvar/280381 ^@ NM_014009.3(FOXP3):c.210+1G>C http://identifiers.org/clinvar/280574 ^@ NM_030632.2(ASXL3):c.1939dupA (p.Thr647Asnfs) http://identifiers.org/clinvar/280543 ^@ NM_021005.3(NR2F2):c.856dupG (p.Val286Glyfs) http://identifiers.org/clinvar/280223 ^@ NM_015559.2(SETBP1):c.1568delA (p.His523Leufs) http://identifiers.org/clinvar/280127 ^@ NM_000517.4(HBA2):c.60delG (p.His21Thrfs) http://identifiers.org/clinvar/280590 ^@ NM_001111125.2(IQSEC2):c.2984G>A (p.Arg995Gln) http://identifiers.org/clinvar/280357 ^@ NM_001083962.1(TCF4):c.1471C>T (p.Gln491Ter) http://identifiers.org/clinvar/280402 ^@ NM_022166.3(XYLT1):c.62delC (p.Ala21Glyfs) http://identifiers.org/clinvar/279803 ^@ NM_001958.3(EEF1A2):c.271G>A (p.Asp91Asn) http://identifiers.org/clinvar/280678 ^@ NM_001111125.2(IQSEC2):c.2329G>T (p.Glu777Ter) http://identifiers.org/clinvar/279970 ^@ NM_001396.3(DYRK1A):c.787C>T (p.Arg263Ter) http://identifiers.org/clinvar/279673 ^@ NM_000383.3(AIRE):c.199_202delCTGAinsTGG (p.Leu67Trpfs) http://identifiers.org/clinvar/280763 ^@ NM_001083962.1(TCF4):c.1031delA (p.Asn344Thrfs) http://identifiers.org/clinvar/280099 ^@ NM_001848.2(COL6A1):c.842G>A (p.Gly281Glu) http://identifiers.org/clinvar/280241 ^@ NM_001111125.2(IQSEC2):c.804delC (p.Tyr269Thrfs) http://identifiers.org/clinvar/280213 ^@ NM_173630.3(RTTN):c.3589_3590delGA (p.Asp1197Terfs) http://identifiers.org/clinvar/279984 ^@ NM_006031.5(PCNT):c.9535dupG (p.Val3179Glyfs) http://identifiers.org/clinvar/280937 ^@ NM_000206.2(IL2RG):c.758-1G>A http://identifiers.org/clinvar/279989 ^@ NM_001271043.2(NFIX):c.327delC (p.Cys110Alafs) http://identifiers.org/clinvar/280755 ^@ NM_000489.4(ATRX):c.5957-1G>A http://identifiers.org/clinvar/280508 ^@ NM_000489.4(ATRX):c.599G>T (p.Cys200Phe) http://identifiers.org/clinvar/279767 ^@ NM_007194.3(CHEK2):c.1186C>G (p.Leu396Val) http://identifiers.org/clinvar/280777 ^@ NM_000548.4(TSC2):c.824dupA (p.Asn275Lysfs) http://identifiers.org/clinvar/279712 ^@ NM_153252.4(BRWD3):c.4309G>A (p.Ala1437Thr) http://identifiers.org/clinvar/279875 ^@ NM_003560.2(PLA2G6):c.1077G>A (p.Ser359=) http://identifiers.org/clinvar/280365 ^@ NM_000548.4(TSC2):c.1929C>G (p.Tyr643Ter) http://identifiers.org/clinvar/280162 ^@ NM_001271043.2(NFIX):c.661C>T (p.Gln221Ter) http://identifiers.org/clinvar/280554 ^@ NM_001429.3(EP300):c.3472C>T (p.Gln1158Ter) http://identifiers.org/clinvar/280337 ^@ NM_000548.4(TSC2):c.2105_2108delACTG (p.Asp702Glyfs) http://identifiers.org/clinvar/280662 ^@ NM_001271043.2(NFIX):c.929delC (p.Pro310Glnfs) http://identifiers.org/clinvar/280764 ^@ NM_000487.5(ARSA):c.854+1G>T http://identifiers.org/clinvar/280352 ^@ NM_000548.4(TSC2):c.4276dupG (p.Glu1426Glyfs) http://identifiers.org/clinvar/280774 ^@ NM_000548.4(TSC2):c.4594C>T (p.Gln1532Ter) http://identifiers.org/clinvar/280615 ^@ NM_001039.3(SCNN1G):c.146_149dupGCCG (p.Leu51Profs) http://identifiers.org/clinvar/280465 ^@ NM_052874.4(STX1B):c.58delG (p.Val20Trpfs) http://identifiers.org/clinvar/280713 ^@ NM_033517.1(SHANK3):c.2928delC (p.Gly977Alafs) http://identifiers.org/clinvar/279714 ^@ NM_000061.2(BTK):c.1573C>T (p.Arg525Ter) http://identifiers.org/clinvar/280356 ^@ NM_004960.3(FUS):c.1504_1505delGA (p.Asp502Glnfs) http://identifiers.org/clinvar/280889 ^@ NM_033380.2(COL4A5):c.2722G>T (p.Gly908Ter) http://identifiers.org/clinvar/280374 ^@ NM_005027.3(PIK3R2):c.1126A>G (p.Lys376Glu) http://identifiers.org/clinvar/280271 ^@ NM_194277.2(FRMD7):c.905+1G>A http://identifiers.org/clinvar/280511 ^@ NM_003611.2(OFD1):c.967delA (p.Ser323Alafs) http://identifiers.org/clinvar/280836 ^@ NM_004750.4(CRLF1):c.322C>T (p.Gln108Ter) http://identifiers.org/clinvar/280442 ^@ NM_133443.3(GPT2):c.181G>T (p.Glu61Ter) http://identifiers.org/clinvar/280742 ^@ NM_001139441.1(BCAP31):c.309_310delCT (p.Tyr104Hisfs) http://identifiers.org/clinvar/280096 ^@ NM_000540.2(RYR1):c.6806dupG (p.Ser2270Leufs) http://identifiers.org/clinvar/279847 ^@ NM_004992.3(MECP2):c.1447G>A (p.Glu483Lys) http://identifiers.org/clinvar/280886 ^@ NM_002968.2(SALL1):c.3099_3105dupTTGCAAT (p.Arg1036Leufs) http://identifiers.org/clinvar/280685 ^@ NM_030662.3(MAP2K2):c.937C>T (p.Arg313Trp) http://identifiers.org/clinvar/280526 ^@ NM_020988.2(GNAO1):c.118G>T (p.Gly40Trp) http://identifiers.org/clinvar/280546 ^@ NM_004992.3(MECP2):c.325A>G (p.Lys109Glu) http://identifiers.org/clinvar/280024 ^@ NM_000339.2(SLC12A3):c.1743delG (p.Met581Ilefs) http://identifiers.org/clinvar/280597 ^@ NM_015629.3(PRPF31):c.950delG (p.Gly317Alafs) http://identifiers.org/clinvar/280199 ^@ NM_015339.4(ADNP):c.1235delT (p.Leu412Profs) http://identifiers.org/clinvar/280262 ^@ NM_015339.4(ADNP):c.819delC (p.Lys274Asnfs) http://identifiers.org/clinvar/280314 ^@ NM_018196.3(TMLHE):c.5G>A (p.Trp2Ter) http://identifiers.org/clinvar/280624 ^@ NM_004614.4(TK2):c.583A>T (p.Lys195Ter) http://identifiers.org/clinvar/280826 ^@ NM_003916.4(AP1S2):c.92delC (p.Thr31Lysfs) http://identifiers.org/clinvar/279828 ^@ NM_005560.4(LAMA5):c.11053G>A (p.Gly3685Arg) http://identifiers.org/clinvar/280394 ^@ NM_172107.3(KCNQ2):c.1604dupG (p.Leu536Profs) http://identifiers.org/clinvar/280753 ^@ NM_006565.3(CTCF):c.1670_1674delGTTCT (p.Cys557Terfs) http://identifiers.org/clinvar/280834 ^@ NM_032195.2(SON):c.1136C>A (p.Ser379Ter) http://identifiers.org/clinvar/279744 ^@ NM_004360.4(CDH1):c.-44G>A http://identifiers.org/clinvar/280454 ^@ NM_001396.3(DYRK1A):c.1014T>G (p.Tyr338Ter) http://identifiers.org/clinvar/279747 ^@ NM_004360.4(CDH1):c.1711+1G>C http://identifiers.org/clinvar/280588 ^@ NM_001396.3(DYRK1A):c.1098_1098+8delGGTAAATGA http://identifiers.org/clinvar/280587 ^@ NM_003159.2(CDKL5):c.693delA (p.Ser232Leufs) http://identifiers.org/clinvar/280719 ^@ NM_003159.2(CDKL5):c.2305G>T (p.Glu769Ter) http://identifiers.org/clinvar/279973 ^@ NM_000383.3(AIRE):c.132+1_132+3delGTGinsCT http://identifiers.org/clinvar/279886 ^@ NM_000330.3(RS1):c.520delC (p.Arg174Glyfs) http://identifiers.org/clinvar/279748 ^@ NM_004360.4(CDH1):c.2296-3A>G http://identifiers.org/clinvar/280486 ^@ NM_000444.5(PHEX):c.508_529del22 (p.Leu170Lysfs) http://identifiers.org/clinvar/280186 ^@ NM_130445.3(COL18A1):c.2970_2971delAGinsC (p.Pro993Leufs) http://identifiers.org/clinvar/280260 ^@ NM_000444.5(PHEX):c.733-2A>T http://identifiers.org/clinvar/280693 ^@ NM_001849.3(COL6A2):c.2422+1G>A http://identifiers.org/clinvar/279869 ^@ NM_000444.5(PHEX):c.733-1G>A http://identifiers.org/clinvar/280780 ^@ NM_006767.3(LZTR1):c.685T>G (p.Cys229Gly) http://identifiers.org/clinvar/280025 ^@ NM_016327.2(UPB1):c.873+1G>A http://identifiers.org/clinvar/280900 ^@ NM_013275.5(ANKRD11):c.7234C>T (p.Gln2412Ter) http://identifiers.org/clinvar/280801 ^@ NM_013275.5(ANKRD11):c.7062delC (p.Ser2355Profs) http://identifiers.org/clinvar/280487 ^@ NM_000444.5(PHEX):c.847_849+2delGAGGT http://identifiers.org/clinvar/280893 ^@ NM_013275.5(ANKRD11):c.5667delA (p.Lys1889Asnfs) http://identifiers.org/clinvar/280310 ^@ NM_013275.5(ANKRD11):c.2719_2730delAAGAAGGACAGGinsT (p.Lys907Terfs) http://identifiers.org/clinvar/280142 ^@ NM_000496.2(CRYBB2):c.563G>A (p.Arg188His) http://identifiers.org/clinvar/280209 ^@ NM_013275.5(ANKRD11):c.1801C>T (p.Arg601Ter) http://identifiers.org/clinvar/280212 ^@ NM_006086.3(TUBB3):c.689C>T (p.Ser230Leu) http://identifiers.org/clinvar/280503 ^@ NM_000444.5(PHEX):c.1080-1G>A http://identifiers.org/clinvar/279995 ^@ NM_000833.4(GRIN2A):c.3701delT (p.Phe1234Serfs) http://identifiers.org/clinvar/279766 ^@ NM_007194.3(CHEK2):c.1008G>A (p.Gln336=) http://identifiers.org/clinvar/280286 ^@ NM_001429.3(EP300):c.3502-1G>T http://identifiers.org/clinvar/280915 ^@ NM_144997.5(FLCN):c.1504C>T (p.Gln502Ter) http://identifiers.org/clinvar/280795 ^@ NM_018006.4(TRMU):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/280070 ^@ NM_000444.5(PHEX):c.1158G>A (p.Trp386Ter) http://identifiers.org/clinvar/280076 ^@ NM_000444.5(PHEX):c.1601C>T (p.Pro534Leu) http://identifiers.org/clinvar/279871 ^@ NM_000444.5(PHEX):c.1645+1G>A http://identifiers.org/clinvar/280539 ^@ NM_000444.5(PHEX):c.1800dupT (p.Pro601Serfs) http://identifiers.org/clinvar/280592 ^@ NM_000444.5(PHEX):c.2147+1G>A http://identifiers.org/clinvar/280862 ^@ NM_000533.4(PLP1):c.191+1G>T http://identifiers.org/clinvar/280420 ^@ NM_000444.5(PHEX):c.2193delT (p.Phe731Leufs) http://identifiers.org/clinvar/280251 ^@ NM_178153.2(DCX):c.304C>G (p.Arg102Gly) http://identifiers.org/clinvar/280909 ^@ NM_144997.5(FLCN):c.1227C>G (p.Tyr409Ter) http://identifiers.org/clinvar/280296 ^@ NM_004006.2(DMD):c.6290+1G>C http://identifiers.org/clinvar/280770 ^@ NM_030665.3(RAI1):c.2275G>T (p.Gly759Ter) http://identifiers.org/clinvar/280047 ^@ NM_000430.3(PAFAH1B1):c.337C>T (p.Arg113Ter) http://identifiers.org/clinvar/279796 ^@ NM_000397.3(CYBB):c.742dupA (p.Ile248Asnfs) http://identifiers.org/clinvar/280461 ^@ NM_000430.3(PAFAH1B1):c.1159+5delG http://identifiers.org/clinvar/279859 ^@ NM_000276.3(OCRL):c.940-11G>A http://identifiers.org/clinvar/280295 ^@ NM_000531.5(OTC):c.216+1delG http://identifiers.org/clinvar/280825 ^@ NM_001193416.2(DDX3X):c.1462delC (p.Arg488Alafs) http://identifiers.org/clinvar/280054 ^@ NM_000267.3(NF1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/280056 ^@ NM_000267.3(NF1):c.2665dupA (p.Thr889Asnfs) http://identifiers.org/clinvar/279699 ^@ NM_021946.4(BCORL1):c.2669G>A (p.Arg890Gln) http://identifiers.org/clinvar/279704 ^@ NM_007294.3(BRCA1):c.434C>T (p.Pro145Leu) http://identifiers.org/clinvar/280514 ^@ NM_001193416.2(DDX3X):c.1804C>T (p.Arg602Ter) http://identifiers.org/clinvar/280437 ^@ NM_003688.3(CASK):c.2255dupA (p.Asn752Lysfs) http://identifiers.org/clinvar/280269 ^@ NM_018896.4(CACNA1G):c.2881G>A (p.Ala961Thr) http://identifiers.org/clinvar/280806 ^@ NM_021140.3(KDM6A):c.4005+5_4005+8delGTAA http://identifiers.org/clinvar/279966 ^@ NM_000194.2(HPRT1):c.266_269delGTGA (p.Ser89Ilefs) http://identifiers.org/clinvar/279696 ^@ NM_004655.3(AXIN2):c.1695G>A (p.Met565Ile) http://identifiers.org/clinvar/280093 ^@ NM_000377.2(WAS):c.1157dupC (p.Gly387Trpfs) http://identifiers.org/clinvar/280060 ^@ NM_002734.4(PRKAR1A):c.738T>G (p.Tyr246Ter) http://identifiers.org/clinvar/280391 ^@ NM_007075.3(WDR45):c.774_775delTA (p.Asp258Glufs) http://identifiers.org/clinvar/280098 ^@ NM_007075.3(WDR45):c.19C>T (p.Arg7Ter) http://identifiers.org/clinvar/280253 ^@ NM_000747.2(CHRNB1):c.919delA (p.Ile307Leufs) http://identifiers.org/clinvar/280049 ^@ NM_000252.2(MTM1):c.593dupA (p.Tyr198Terfs) http://identifiers.org/clinvar/280650 ^@ NM_005629.3(SLC6A8):c.1290_1309del20 (p.Asp431Leufs) http://identifiers.org/clinvar/279811 ^@ NM_000152.4(GAA):c.1655T>C (p.Leu552Pro) http://identifiers.org/clinvar/280239 ^@ NM_005183.3(CACNA1F):c.276delG (p.Lys92Asnfs) http://identifiers.org/clinvar/280519 ^@ NM_001456.3(FLNA):c.5906_5918delAGACGGATCTCAG (p.Glu1969Alafs) http://identifiers.org/clinvar/280530 ^@ NM_020717.3(SHROOM4):c.3739C>T (p.Gln1247Ter) http://identifiers.org/clinvar/280063 ^@ NM_000152.4(GAA):c.2237G>A (p.Trp746Ter) http://identifiers.org/clinvar/280595 ^@ NM_001456.3(FLNA):c.4519C>T (p.Gln1507Ter) http://identifiers.org/clinvar/280754 ^@ NM_006306.3(SMC1A):c.1192C>T (p.Arg398Ter) http://identifiers.org/clinvar/280625 ^@ NM_000292.2(PHKA2):c.2672delC (p.Thr891Serfs) http://identifiers.org/clinvar/280023 ^@ NM_004586.2(RPS6KA3):c.1934G>A (p.Trp645Ter) http://identifiers.org/clinvar/280029 ^@ NM_004586.2(RPS6KA3):c.606_608delTGA (p.Asp202del) http://identifiers.org/clinvar/280839 ^@ NM_004493.2(HSD17B10):c.634A>G (p.Lys212Glu) http://identifiers.org/clinvar/280083 ^@ NM_000199.3(SGSH):c.629G>A (p.Trp210Ter) http://identifiers.org/clinvar/279955 ^@ NM_001614.3(ACTG1):c.131T>A (p.Met44Lys) http://identifiers.org/clinvar/280723 ^@ NM_031407.6(HUWE1):c.9208C>T (p.Arg3070Cys) http://identifiers.org/clinvar/279974 ^@ NM_000529.2(MC2R):c.579_581delTGT (p.Tyr193_Trp297del) http://identifiers.org/clinvar/280684 ^@ NM_030632.2(ASXL3):c.4022_4023delTG (p.Val1341Alafs) http://identifiers.org/clinvar/280521 ^@ NM_014927.4(CNKSR2):c.114delG (p.Ile39Serfs) http://identifiers.org/clinvar/280612 ^@ NM_030632.2(ASXL3):c.5486delA (p.Lys1829Argfs) http://identifiers.org/clinvar/279685 ^@ NM_000044.4(AR):c.1886-1G>A http://identifiers.org/clinvar/280415 ^@ NM_000444.5(PHEX):c.154G>T (p.Glu52Ter) http://identifiers.org/clinvar/280280 ^@ NM_176787.4(PIGN):c.1434_1434+1delGGinsAA http://identifiers.org/clinvar/280773 ^@ NM_001127221.1(CACNA1A):c.4177G>C (p.Val1393Leu) http://identifiers.org/clinvar/279686 ^@ NM_000044.4(AR):c.2301delT (p.Asp768Ilefs) http://identifiers.org/clinvar/280312 ^@ NM_001127221.1(CACNA1A):c.4070T>G (p.Ile1357Ser) http://identifiers.org/clinvar/280906 ^@ NM_000444.5(PHEX):c.448A>T (p.Lys150Ter) http://identifiers.org/clinvar/280062 ^@ NM_000044.4(AR):c.2314A>C (p.Asn772His) http://identifiers.org/clinvar/280277 ^@ NM_000435.2(NOTCH3):c.1364G>T (p.Cys455Phe) http://identifiers.org/clinvar/279799 ^@ NM_173483.3(CYP4F22):c.59dupG (p.Ile21Hisfs) http://identifiers.org/clinvar/280502 ^@ NM_000444.5(PHEX):c.617T>A (p.Leu206Ter) http://identifiers.org/clinvar/280388 ^@ NM_005027.3(PIK3R2):c.1690A>G (p.Lys564Glu) http://identifiers.org/clinvar/279688 ^@ NM_000044.4(AR):c.2567G>T (p.Arg856Leu) http://identifiers.org/clinvar/280793 ^@ NM_018486.2(HDAC8):c.496C>T (p.Arg166Ter) http://identifiers.org/clinvar/280393 ^@ NM_000095.2(COMP):c.875G>T (p.Cys292Phe) http://identifiers.org/clinvar/280172 ^@ NM_001008537.2(KIAA2022):c.2138_2171dup34 (p.Ser724Argfs) http://identifiers.org/clinvar/280696 ^@ NM_000444.5(PHEX):c.941G>A (p.Trp314Ter) http://identifiers.org/clinvar/280451 ^@ NM_001042631.2(SDHAF1):c.156C>A (p.Tyr52Ter) http://identifiers.org/clinvar/280509 ^@ NM_001008537.2(KIAA2022):c.1441C>T (p.Arg481Ter) http://identifiers.org/clinvar/280634 ^@ NM_001083961.1(WDR62):c.1941C>A (p.Cys647Ter) http://identifiers.org/clinvar/279777 ^@ NM_000390.3(CHM):c.1138C>T (p.Gln380Ter) http://identifiers.org/clinvar/279772 ^@ NM_000390.3(CHM):c.315_318delTCAG (p.Ser105Argfs) http://identifiers.org/clinvar/280275 ^@ NM_000540.2(RYR1):c.4485_4500del16 (p.Trp1495Terfs) http://identifiers.org/clinvar/280071 ^@ NM_000444.5(PHEX):c.1080-2A>G http://identifiers.org/clinvar/279770 ^@ NM_000390.3(CHM):c.116+1G>T http://identifiers.org/clinvar/280196 ^@ NM_000444.5(PHEX):c.1241delT (p.Leu414Profs) http://identifiers.org/clinvar/280073 ^@ NM_000444.5(PHEX):c.1434T>A (p.Tyr478Ter) http://identifiers.org/clinvar/279960 ^@ NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met) http://identifiers.org/clinvar/280075 ^@ NM_000444.5(PHEX):c.1586_1586+1delAG http://identifiers.org/clinvar/280460 ^@ NM_030662.3(MAP2K2):c.580+5G>A http://identifiers.org/clinvar/280672 ^@ NM_000444.5(PHEX):c.1587-1G>A http://identifiers.org/clinvar/279976 ^@ NM_000444.5(PHEX):c.1768+1G>C http://identifiers.org/clinvar/280079 ^@ NM_000444.5(PHEX):c.1843dupA (p.Thr615Asnfs) http://identifiers.org/clinvar/280080 ^@ NM_000444.5(PHEX):c.1854_1857dupGATT (p.Asn620Aspfs) http://identifiers.org/clinvar/279941 ^@ NM_000444.5(PHEX):c.1935_1938dupTGAT (p.Asn647Terfs) http://identifiers.org/clinvar/280084 ^@ NM_000444.5(PHEX):c.1989_1990delCA (p.Asp663Glufs) http://identifiers.org/clinvar/280674 ^@ NM_000444.5(PHEX):c.2048_2051dupTCTT (p.Phe685Leufs) http://identifiers.org/clinvar/280819 ^@ NM_030662.3(MAP2K2):c.536G>A (p.Arg179Gln) http://identifiers.org/clinvar/280086 ^@ NM_000444.5(PHEX):c.2064T>A (p.Tyr688Ter) http://identifiers.org/clinvar/280121 ^@ NM_152296.4(ATP1A3):c.2324C>T (p.Pro775Leu) http://identifiers.org/clinvar/280087 ^@ NM_000444.5(PHEX):c.2071-1G>A http://identifiers.org/clinvar/280088 ^@ NM_000444.5(PHEX):c.2138dupC (p.Gln714Serfs) http://identifiers.org/clinvar/280447 ^@ NM_004006.2(DMD):c.5276_5277delAG (p.Glu1759Alafs) http://identifiers.org/clinvar/279793 ^@ NM_000397.3(CYBB):c.23_26dupAGGG (p.Leu10Glyfs) http://identifiers.org/clinvar/280159 ^@ NM_000483.4(APOC2):c.196_197delGC (p.Ala66Cysfs) http://identifiers.org/clinvar/279794 ^@ NM_000397.3(CYBB):c.271C>T (p.Arg91Ter) http://identifiers.org/clinvar/280304 ^@ NM_020533.2(MCOLN1):c.615dupC (p.Ser206Glnfs) http://identifiers.org/clinvar/280000 ^@ NM_000397.3(CYBB):c.565_568delATTA (p.Ile189Serfs) http://identifiers.org/clinvar/280363 ^@ NM_000397.3(CYBB):c.1573delA (p.Ser525Valfs) http://identifiers.org/clinvar/280228 ^@ NM_015338.5(ASXL1):c.1867C>T (p.Gln623Ter) http://identifiers.org/clinvar/279700 ^@ NM_017745.5(BCOR):c.1084G>A (p.Ala362Thr) http://identifiers.org/clinvar/280380 ^@ NM_001039590.2(USP9X):c.1140G>A (p.Trp380Ter) http://identifiers.org/clinvar/280907 ^@ NM_015339.4(ADNP):c.2268dupC (p.Lys757Glnfs) http://identifiers.org/clinvar/280623 ^@ NM_015339.4(ADNP):c.2157C>A (p.Tyr719Ter) http://identifiers.org/clinvar/279991 ^@ NM_003688.3(CASK):c.2630T>G (p.Leu877Ter) http://identifiers.org/clinvar/279730 ^@ NM_003688.3(CASK):c.429+1G>A http://identifiers.org/clinvar/280558 ^@ NM_005676.4(RBM10):c.1693+2dupT http://identifiers.org/clinvar/279917 ^@ NM_000377.2(WAS):c.466_469delAGAC (p.Arg156Alafs) http://identifiers.org/clinvar/280876 ^@ NM_015339.4(ADNP):c.330dupC (p.Tyr111Leufs) http://identifiers.org/clinvar/280557 ^@ NM_015339.4(ADNP):c.190dupA (p.Thr64Asnfs) http://identifiers.org/clinvar/280501 ^@ NM_007075.3(WDR45):c.440-2A>G http://identifiers.org/clinvar/280703 ^@ NM_172107.3(KCNQ2):c.1637T>C (p.Met546Thr) http://identifiers.org/clinvar/280614 ^@ NM_172107.3(KCNQ2):c.629G>C (p.Arg210Pro) http://identifiers.org/clinvar/279683 ^@ NM_000044.4(AR):c.220C>T (p.Gln74Ter) http://identifiers.org/clinvar/280740 ^@ NM_172107.3(KCNQ2):c.274dupG (p.Ala92Glyfs) http://identifiers.org/clinvar/280666 ^@ NM_001396.3(DYRK1A):c.368delA (p.Gln123Argfs) http://identifiers.org/clinvar/279684 ^@ NM_000044.4(AR):c.1847G>A (p.Arg616His) http://identifiers.org/clinvar/280864 ^@ NM_001396.3(DYRK1A):c.1378_1381delCTTG (p.Leu460Ilefs) http://identifiers.org/clinvar/279687 ^@ NM_000044.4(AR):c.2566C>T (p.Arg856Cys) http://identifiers.org/clinvar/280197 ^@ NM_001849.3(COL6A2):c.244C>T (p.Gln82Ter) http://identifiers.org/clinvar/279690 ^@ NM_000044.4(AR):c.2668G>A (p.Val890Met) http://identifiers.org/clinvar/280631 ^@ NM_004429.4(EFNB1):c.219T>G (p.Tyr73Ter) http://identifiers.org/clinvar/280935 ^@ NM_080647.1(TBX1):c.498_501dupCGAT (p.Lys168Argfs) http://identifiers.org/clinvar/280035 ^@ NM_000206.2(IL2RG):c.924+1G>A http://identifiers.org/clinvar/280036 ^@ NM_000206.2(IL2RG):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/280594 ^@ NM_006767.3(LZTR1):c.455T>C (p.Leu152Pro) http://identifiers.org/clinvar/280671 ^@ NM_018486.2(HDAC8):c.787C>T (p.Gln263Ter) http://identifiers.org/clinvar/280313 ^@ NM_006767.3(LZTR1):c.509+1G>T http://identifiers.org/clinvar/279768 ^@ NM_007194.3(CHEK2):c.1462G>A (p.Asp488Asn) http://identifiers.org/clinvar/280347 ^@ NM_001008537.2(KIAA2022):c.2205_2212delTGCTGGGC (p.Ala736Argfs) http://identifiers.org/clinvar/280904 ^@ NM_001008537.2(KIAA2022):c.1493C>A (p.Ser498Ter) http://identifiers.org/clinvar/279775 ^@ NM_000390.3(CHM):c.799C>T (p.Arg267Ter) http://identifiers.org/clinvar/280221 ^@ NM_033517.1(SHANK3):c.4906_4921dup16 (p.Pro1641Leufs) http://identifiers.org/clinvar/279773 ^@ NM_000390.3(CHM):c.525_526delAG (p.Glu177Lysfs) http://identifiers.org/clinvar/279903 ^@ NM_014467.2(SRPX2):c.1012T>A (p.Phe338Ile) http://identifiers.org/clinvar/279769 ^@ NM_000390.3(CHM):c.49+1G>T http://identifiers.org/clinvar/279713 ^@ NM_000061.2(BTK):c.215dupA (p.Asn72Lysfs) http://identifiers.org/clinvar/280441 ^@ NM_000533.4(PLP1):c.673delC (p.Leu225Cysfs) http://identifiers.org/clinvar/280273 ^@ NM_033380.2(COL4A5):c.2396-1G>T http://identifiers.org/clinvar/280725 ^@ NM_000276.3(OCRL):c.2582-1G>T http://identifiers.org/clinvar/280785 ^@ NM_000194.2(HPRT1):c.202C>T (p.Leu68Phe) http://identifiers.org/clinvar/280565 ^@ NM_000074.2(CD40LG):c.638delG (p.Ser213Ilefs) http://identifiers.org/clinvar/280226 ^@ NM_005629.3(SLC6A8):c.1072_1095del24 (p.Val358_Phe365del) http://identifiers.org/clinvar/280878 ^@ NM_005629.3(SLC6A8):c.1255-2A>G http://identifiers.org/clinvar/280683 ^@ NM_005629.3(SLC6A8):c.1422_1434delCTACTACTCGGCCinsTTGACTACTACTACAG (p.Tyr475_Met635del) http://identifiers.org/clinvar/280513 ^@ NM_000425.4(L1CAM):c.1146C>G (p.Tyr382Ter) http://identifiers.org/clinvar/280541 ^@ NM_004992.3(MECP2):c.1086dupC (p.Lys363Glnfs) http://identifiers.org/clinvar/280475 ^@ NM_003159.2(CDKL5):c.2095G>T (p.Glu699Ter) http://identifiers.org/clinvar/280852 ^@ NM_000292.2(PHKA2):c.2782_2783delCTinsATGGCACGGAGCC (p.Leu928Metfs) http://identifiers.org/clinvar/280300 ^@ NM_000444.5(PHEX):c.664-1G>A http://identifiers.org/clinvar/280072 ^@ NM_000444.5(PHEX):c.1367G>A (p.Trp456Ter) http://identifiers.org/clinvar/279870 ^@ NM_000444.5(PHEX):c.1645C>T (p.Arg549Ter) http://identifiers.org/clinvar/280078 ^@ NM_000444.5(PHEX):c.1806G>A (p.Trp602Ter) http://identifiers.org/clinvar/280586 ^@ NM_000444.5(PHEX):c.1828_1829dupAA (p.Phe611Serfs) http://identifiers.org/clinvar/280082 ^@ NM_000444.5(PHEX):c.1979G>A (p.Trp660Ter) http://identifiers.org/clinvar/279872 ^@ NM_000444.5(PHEX):c.2104C>T (p.Arg702Ter) http://identifiers.org/clinvar/279692 ^@ NM_000047.2(ARSE):c.1711C>T (p.Gln571Ter) http://identifiers.org/clinvar/279691 ^@ NM_000047.2(ARSE):c.1300G>A (p.Gly434Ser) http://identifiers.org/clinvar/279854 ^@ NM_000475.4(NR0B1):c.1301delT (p.Phe434Serfs) http://identifiers.org/clinvar/280051 ^@ NM_004006.2(DMD):c.1865C>G (p.Ser622Ter) http://identifiers.org/clinvar/279795 ^@ NM_000397.3(CYBB):c.388delC (p.Arg130Glufs) http://identifiers.org/clinvar/280089 ^@ NM_001034853.1(RPGR):c.3317dupA (p.Ser1107Valfs) http://identifiers.org/clinvar/280593 ^@ NM_001193416.2(DDX3X):c.80dupA (p.Ser28Glufs) http://identifiers.org/clinvar/280371 ^@ NM_001193416.2(DDX3X):c.233C>G (p.Ser78Ter) http://identifiers.org/clinvar/279959 ^@ NM_003688.3(CASK):c.523dupG (p.Val175Glyfs) http://identifiers.org/clinvar/280751 ^@ NM_021140.3(KDM6A):c.2830dupT (p.Tyr944Leufs) http://identifiers.org/clinvar/280214 ^@ NM_005676.4(RBM10):c.170_171delAT (p.Tyr57Terfs) http://identifiers.org/clinvar/280097 ^@ NM_007075.3(WDR45):c.587_588delTA (p.Ile196Serfs) http://identifiers.org/clinvar/280698 ^@ NM_004187.3(KDM5C):c.1402-2A>G http://identifiers.org/clinvar/280180 ^@ NM_001111125.2(IQSEC2):c.2272C>T (p.Arg758Ter) http://identifiers.org/clinvar/279682 ^@ NM_000044.4(AR):c.1822C>T (p.Arg608Ter) http://identifiers.org/clinvar/279689 ^@ NM_000044.4(AR):c.2659A>G (p.Met887Val) http://identifiers.org/clinvar/280643 ^@ NM_004429.4(EFNB1):c.85dupG (p.Ala29Glyfs) http://identifiers.org/clinvar/280902 ^@ NM_001399.4(EDA):c.872G>A (p.Gly291Glu) http://identifiers.org/clinvar/280361 ^@ NM_005120.2(MED12):c.5125C>T (p.Arg1709Ter) http://identifiers.org/clinvar/280599 ^@ NM_001008537.2(KIAA2022):c.1123delG (p.Glu375Argfs) http://identifiers.org/clinvar/280835 ^@ NM_001008537.2(KIAA2022):c.1042C>T (p.Arg348Ter) http://identifiers.org/clinvar/279776 ^@ NM_000390.3(CHM):c.969T>A (p.Tyr323Ter) http://identifiers.org/clinvar/279774 ^@ NM_000390.3(CHM):c.757C>T (p.Arg253Ter) http://identifiers.org/clinvar/279771 ^@ NM_000390.3(CHM):c.130G>T (p.Gly44Ter) http://identifiers.org/clinvar/280941 ^@ NM_003978.4(PSTPIP1):c.364G>A (p.Val122Ile) http://identifiers.org/clinvar/280942 ^@ NM_003978.4(PSTPIP1):c.865G>C (p.Asp289His) http://identifiers.org/clinvar/280943 ^@ NM_000781.2(CYP11A1):c.968T>A (p.Met323Lys) http://identifiers.org/clinvar/280944 ^@ NM_000016.5(ACADM):c.230T>A (p.Leu77Gln) http://identifiers.org/clinvar/280945 ^@ NM_000016.5(ACADM):c.1019C>T (p.Ala340Val) http://identifiers.org/clinvar/280946 ^@ NM_000016.5(ACADM):c.1022C>T (p.Ala341Val) http://identifiers.org/clinvar/280947 ^@ NM_000016.5(ACADM):c.286G>A (p.Gly96Arg) http://identifiers.org/clinvar/280948 ^@ NM_000016.5(ACADM):c.673G>A (p.Glu225Lys) http://identifiers.org/clinvar/280949 ^@ NM_000016.5(ACADM):c.388-14A>G http://identifiers.org/clinvar/280950 ^@ NM_000487.5(ARSA):c.346C>T (p.Arg116Ter) http://identifiers.org/clinvar/280954 ^@ NM_000152.4(GAA):c.1912G>T (p.Gly638Trp) http://identifiers.org/clinvar/280955 ^@ NM_000152.4(GAA):c.546G>A (p.Thr182=) http://identifiers.org/clinvar/280956 ^@ NM_000152.4(GAA):c.510C>T (p.Asp170=) http://identifiers.org/clinvar/280957 ^@ NM_000153.3(GALC):c.908C>T (p.Ser303Phe) http://identifiers.org/clinvar/280958 ^@ NM_000153.3(GALC):c.973A>G (p.Met325Val) http://identifiers.org/clinvar/280959 ^@ NM_000153.3(GALC):c.195G>C (p.Gly65=) http://identifiers.org/clinvar/280960 ^@ NM_000512.4(GALNS):c.569A>G (p.Tyr190Cys) http://identifiers.org/clinvar/280961 ^@ NM_000155.3(GALT):c.377+7A>C http://identifiers.org/clinvar/280962 ^@ NM_000155.3(GALT):c.277T>A (p.Phe93Ile) http://identifiers.org/clinvar/280963 ^@ NM_000155.3(GALT):c.341A>C (p.His114Pro) http://identifiers.org/clinvar/280964 ^@ NM_000155.3(GALT):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/280965 ^@ NM_000155.3(GALT):c.71_72insA (p.Phe24Leufs) http://identifiers.org/clinvar/280966 ^@ NM_000155.3(GALT):c.605A>C (p.Glu202Ala) http://identifiers.org/clinvar/280967 ^@ NM_000155.3(GALT):c.232G>A (p.Ala78Thr) http://identifiers.org/clinvar/280968 ^@ NM_000155.3(GALT):c.893T>C (p.Met298Thr) http://identifiers.org/clinvar/280969 ^@ NM_000155.3(GALT):c.387G>A (p.Met129Ile) http://identifiers.org/clinvar/280970 ^@ NM_000155.3(GALT):c.902A>G (p.His301Arg) http://identifiers.org/clinvar/280971 ^@ NM_000155.3(GALT):c.587C>T (p.Pro196Leu) http://identifiers.org/clinvar/280972 ^@ NM_001005741.2(GBA):c.521A>G (p.Tyr174Cys) http://identifiers.org/clinvar/280973 ^@ NM_000169.2(GLA):c.830G>A (p.Trp277Ter) http://identifiers.org/clinvar/280974 ^@ NM_000169.2(GLA):c.268T>C (p.Cys90Arg) http://identifiers.org/clinvar/280975 ^@ NM_000521.3(HEXB):c.1023_1026delTGAG (p.Ser341Argfs) http://identifiers.org/clinvar/280976 ^@ NM_000203.4(IDUA):c.1855C>T (p.Arg619Ter) http://identifiers.org/clinvar/280979 ^@ NM_000263.3(NAGLU):c.1322C>G (p.Thr441Arg) http://identifiers.org/clinvar/280980 ^@ NM_015560.2(OPA1):c.1140+1G>A http://identifiers.org/clinvar/280981 ^@ NM_025136.3(OPA3):c.412G>A (p.Ala138Thr) http://identifiers.org/clinvar/280983 ^@ NC_000012.11:g.103234328G>A http://identifiers.org/clinvar/280984 ^@ NM_000277.1(PAH):c.1003A>G (p.Lys335Glu) http://identifiers.org/clinvar/280985 ^@ NM_000543.4(SMPD1):c.813T>C (p.Pro271=) http://identifiers.org/clinvar/280986 ^@ NM_000487.5(ARSA):c.1002C>T (p.Ser334=) http://identifiers.org/clinvar/280987 ^@ NM_000155.3(GALT):c.1081C>T (p.Leu361Phe) http://identifiers.org/clinvar/280988 ^@ NM_000199.3(SGSH):c.1135delG (p.Val379Cysfs) http://identifiers.org/clinvar/280989 ^@ NM_000155.3(GALT):c.776G>A (p.Arg259Gln) http://identifiers.org/clinvar/280990 ^@ NM_000155.3(GALT):c.817G>C (p.Asp273His) http://identifiers.org/clinvar/280991 ^@ NM_000016.5(ACADM):c.692T>C (p.Ile231Thr) http://identifiers.org/clinvar/280992 ^@ NM_000203.4(IDUA):c.296C>T (p.Thr99Ile) http://identifiers.org/clinvar/280994 ^@ NM_000263.3(NAGLU):c.701G>C (p.Arg234Pro) http://identifiers.org/clinvar/280995 ^@ NM_000155.3(GALT):c.329-24G>A http://identifiers.org/clinvar/280996 ^@ NM_000155.3(GALT):c.414G>T (p.Thr138=) http://identifiers.org/clinvar/280997 ^@ NM_000155.3(GALT):c.1006A>G (p.Met336Val) http://identifiers.org/clinvar/280999 ^@ NM_000155.3(GALT):c.328+33G>C http://identifiers.org/clinvar/281002 ^@ NM_000521.3(HEXB):c.508C>T (p.Arg170Ter) http://identifiers.org/clinvar/281003 ^@ NM_000425.4(L1CAM):c.23T>A (p.Val8Glu) http://identifiers.org/clinvar/281004 ^@ NM_000137.2(FAH):c.921A>G (p.Gly307=) http://identifiers.org/clinvar/281005 ^@ NM_000203.4(IDUA):c.299G>A (p.Arg100Lys) http://identifiers.org/clinvar/281006 ^@ NM_000263.3(NAGLU):c.1788C>T (p.Gly596=) http://identifiers.org/clinvar/281007 ^@ NM_015506.2(MMACHC):c.615C>G (p.Tyr205Ter) http://identifiers.org/clinvar/281008 ^@ NM_000155.3(GALT):c.139C>G (p.His47Asp) http://identifiers.org/clinvar/281009 ^@ NM_000052.6(ATP7A):c.1974_1977dupGTTT (p.Phe660Valfs) http://identifiers.org/clinvar/281010 ^@ NM_000071.2(CBS):c.28delG (p.Val10Trpfs) http://identifiers.org/clinvar/281011 ^@ NM_000070.2(CAPN3):c.2071G>A (p.Gly691Arg) http://identifiers.org/clinvar/281012 ^@ NM_001130987.1(DYSF):c.5174+5G>T http://identifiers.org/clinvar/281013 ^@ NM_000231.2(SGCG):c.559G>A (p.Asp187Asn) http://identifiers.org/clinvar/281014 ^@ NM_003494.3(DYSF):c.1877T>C (p.Met626Thr) http://identifiers.org/clinvar/281015 ^@ NM_000016.5(ACADM):c.385G>T (p.Gly129Trp) http://identifiers.org/clinvar/281016 ^@ NM_000016.5(ACADM):c.388-5G>A http://identifiers.org/clinvar/281017 ^@ NM_000277.1(PAH):c.356C>T (p.Pro119Leu) http://identifiers.org/clinvar/281018 ^@ NM_000512.4(GALNS):c.139G>A (p.Gly47Arg) http://identifiers.org/clinvar/281019 ^@ NM_024312.4(GNPTAB):c.500T>A (p.Ile167Asn) http://identifiers.org/clinvar/281020 ^@ NM_024312.4(GNPTAB):c.1429T>G (p.Tyr477Asp) http://identifiers.org/clinvar/281021 ^@ NM_014271.3(IL1RAPL1):c.-19G>A http://identifiers.org/clinvar/281022 ^@ NM_000155.3(GALT):c.820+26G>A http://identifiers.org/clinvar/281024 ^@ NM_000277.1(PAH):c.590T>G (p.Leu197Trp) http://identifiers.org/clinvar/281025 ^@ NM_000404.3(GLB1):c.385G>A (p.Glu129Lys) http://identifiers.org/clinvar/281026 ^@ NM_000019.3(ACAT1):c.1253G>A (p.Gly418Asp) http://identifiers.org/clinvar/281027 ^@ NM_000023.3(SGCA):c.518T>C (p.Leu173Pro) http://identifiers.org/clinvar/281030 ^@ NM_000169.2(GLA):c.979C>T (p.Gln327Ter) http://identifiers.org/clinvar/281031 ^@ NM_000271.4(NPC1):c.1221G>C (p.Gln407His) http://identifiers.org/clinvar/281032 ^@ NM_000016.5(ACADM):c.330A>G (p.Glu110=) http://identifiers.org/clinvar/281033 ^@ NM_000016.5(ACADM):c.125C>T (p.Thr42Ile) http://identifiers.org/clinvar/281034 ^@ NM_000155.3(GALT):c.329-19T>C http://identifiers.org/clinvar/281035 ^@ NM_000070.2(CAPN3):c.2440-3C>G http://identifiers.org/clinvar/281037 ^@ NM_014384.2(ACAD8):c.289G>A (p.Gly97Arg) http://identifiers.org/clinvar/281042 ^@ NM_000018.3(ACADVL):c.833_835delAGA (p.Lys278del) http://identifiers.org/clinvar/281043 ^@ NM_000016.5(ACADM):c.287-7dupA http://identifiers.org/clinvar/281044 ^@ NM_000155.3(GALT):c.683G>C (p.Arg228Thr) http://identifiers.org/clinvar/281045 ^@ NM_005609.3(PYGM):c.1924C>T (p.Arg642Cys) http://identifiers.org/clinvar/281046 ^@ NM_000543.4(SMPD1):c.714A>G (p.Ala238=) http://identifiers.org/clinvar/281047 ^@ NM_000016.5(ACADM):c.938T>C (p.Leu313Pro) http://identifiers.org/clinvar/281048 ^@ NM_020451.2(SELENON):c.1715C>A (p.Thr572Asn) http://identifiers.org/clinvar/281049 ^@ NM_000271.4(NPC1):c.1071G>A (p.Ser357=) http://identifiers.org/clinvar/281050 ^@ NM_000271.4(NPC1):c.1947+10G>A http://identifiers.org/clinvar/281051 ^@ NM_012210.3(TRIM32):c.339G>C (p.Arg113=) http://identifiers.org/clinvar/281052 ^@ NM_000152.4(GAA):c.853C>T (p.Pro285Ser) http://identifiers.org/clinvar/281054 ^@ NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln) http://identifiers.org/clinvar/281055 ^@ NM_000016.5(ACADM):c.423_425delAAA (p.Lys144del) http://identifiers.org/clinvar/281056 ^@ NM_000152.4(GAA):c.546G>C (p.Thr182=) http://identifiers.org/clinvar/281057 ^@ NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) http://identifiers.org/clinvar/281058 ^@ NM_000155.3(GALT):c.142C>T (p.Arg48Cys) http://identifiers.org/clinvar/281060 ^@ NM_000284.3(PDHA1):c.640T>C (p.Trp214Arg) http://identifiers.org/clinvar/281062 ^@ NM_000070.2(CAPN3):c.1322delG (p.Gly441Valfs) http://identifiers.org/clinvar/281063 ^@ NM_003494.3(DYSF):c.3478C>T (p.Gln1160Ter) http://identifiers.org/clinvar/281064 ^@ NM_000232.4(SGCB):c.622-7T>G http://identifiers.org/clinvar/281065 ^@ NM_001849.3(COL6A2):c.2844G>A (p.Thr948=) http://identifiers.org/clinvar/281066 ^@ NM_003060.3(SLC22A5):c.1085C>T (p.Ser362Leu) http://identifiers.org/clinvar/281067 ^@ NM_001130987.1(DYSF):c.1372G>A (p.Gly458Arg) http://identifiers.org/clinvar/281068 ^@ NM_013382.5(POMT2):c.1045_1052delCGGATGGCinsG (p.Arg349Alafs) http://identifiers.org/clinvar/281069 ^@ NM_000155.3(GALT):c.405G>A (p.Ser135=) http://identifiers.org/clinvar/281070 ^@ NM_006790.2(MYOT):c.323A>C (p.Asn108Thr) http://identifiers.org/clinvar/281071 ^@ NM_000203.4(IDUA):c.234C>T (p.Gly78=) http://identifiers.org/clinvar/281072 ^@ NM_003494.3(DYSF):c.4090C>T (p.Gln1364Ter) http://identifiers.org/clinvar/281073 ^@ NM_000277.1(PAH):c.983C>T (p.Thr328Ile) http://identifiers.org/clinvar/281074 ^@ NM_000155.3(GALT):c.510C>A (p.Ile170=) http://identifiers.org/clinvar/281075 ^@ NM_000155.3(GALT):c.558C>A (p.His186Gln) http://identifiers.org/clinvar/281076 ^@ NM_002225.3(IVD):c.872C>T (p.Ala291Val) http://identifiers.org/clinvar/281077 ^@ NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) http://identifiers.org/clinvar/281078 ^@ NM_000303.2(PMM2):c.366C>T (p.Phe122=) http://identifiers.org/clinvar/281079 ^@ NM_000252.2(MTM1):c.19delT (p.Ser7Leufs) http://identifiers.org/clinvar/281080 ^@ NM_153252.4(BRWD3):c.3863G= (p.Arg1288=) http://identifiers.org/clinvar/281081 ^@ NM_000070.2(CAPN3):c.2257G>A (p.Asp753Asn) http://identifiers.org/clinvar/281082 ^@ NM_000155.3(GALT):c.74G>C (p.Arg25Pro) http://identifiers.org/clinvar/281084 ^@ NM_000155.3(GALT):c.875C>T (p.Thr292Met) http://identifiers.org/clinvar/281085 ^@ NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) http://identifiers.org/clinvar/281086 ^@ NM_000070.2(CAPN3):c.635T>C (p.Leu212Pro) http://identifiers.org/clinvar/281087 ^@ NM_000117.2(EMD):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/281088 ^@ NM_000070.2(CAPN3):c.1227A>G (p.Thr409=) http://identifiers.org/clinvar/281089 ^@ NM_000271.4(NPC1):c.3573_3574insACTT (p.Ala1192Thrfs) http://identifiers.org/clinvar/281095 ^@ NM_000163.4(GHR):c.1319G>T (p.Cys440Phe) http://identifiers.org/clinvar/281096 ^@ NM_000163.4(GHR):c.1735C>A (p.Pro579Thr) http://identifiers.org/clinvar/281097 ^@ NM_000152.4(GAA):c.693-4G>T http://identifiers.org/clinvar/281098 ^@ NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His) http://identifiers.org/clinvar/281104 ^@ NM_001130987.1(DYSF):c.5503C>T (p.Arg1835Trp) http://identifiers.org/clinvar/281106 ^@ NM_001271208.1(NEB):c.167_168insTCTGGCACAGCCAGC (p.Ala61_Ser62insLeuAlaGlnProAla) http://identifiers.org/clinvar/281107 ^@ NM_020921.3(NIN):c.3374C= (p.Pro1125=) http://identifiers.org/clinvar/281108 ^@ NM_017617.4(NOTCH1):c.2588-4G>A http://identifiers.org/clinvar/281109 ^@ NM_001006657.1(WDR35):c.355C>T (p.Arg119Cys) http://identifiers.org/clinvar/281110 ^@ NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) http://identifiers.org/clinvar/281112 ^@ NM_201380.3(PLEC):c.3619A>G (p.Thr1207Ala) http://identifiers.org/clinvar/281113 ^@ NM_021734.4(SLC25A19):c.797T>G (p.Met266Arg) http://identifiers.org/clinvar/281114 ^@ NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) http://identifiers.org/clinvar/281115 ^@ NM_003919.2(SGCE):c.769A>C (p.Thr257Pro) http://identifiers.org/clinvar/281116 ^@ NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) http://identifiers.org/clinvar/281117 ^@ NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) http://identifiers.org/clinvar/281118 ^@ NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) http://identifiers.org/clinvar/281119 ^@ NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/281122 ^@ NM_147127.4(EVC2):c.1823G>A (p.Arg608His) http://identifiers.org/clinvar/281123 ^@ NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) http://identifiers.org/clinvar/281124 ^@ NM_004543.4(NEB):c.14183C>A (p.Ala4728Asp) http://identifiers.org/clinvar/281125 ^@ NM_004543.4(NEB):c.14182G>A (p.Ala4728Thr) http://identifiers.org/clinvar/281126 ^@ NM_013339.3(ALG6):c.1481T>C (p.Met494Thr) http://identifiers.org/clinvar/281127 ^@ NM_000293.2(PHKB):c.1969C>A (p.Gln657Lys) http://identifiers.org/clinvar/281129 ^@ NM_016335.4(PRODH):c.88C>T (p.Pro30Ser) http://identifiers.org/clinvar/281130 ^@ NM_000036.2(AMPD1):c.314+8G>A http://identifiers.org/clinvar/281131 ^@ NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) http://identifiers.org/clinvar/281132 ^@ NM_001127221.1(CACNA1A):c.6659_6660insCCA (p.His2220_Pro2221insHis) http://identifiers.org/clinvar/281133 ^@ NM_001194998.1(CEP152):c.4378_4379delGT (p.Val1460Phefs) http://identifiers.org/clinvar/281134 ^@ NM_182961.3(SYNE1):c.23222A>G (p.Tyr7741Cys) http://identifiers.org/clinvar/281135 ^@ NM_033071.3(SYNE1):c.24947C>T (p.Pro8316Leu) http://identifiers.org/clinvar/281136 ^@ NM_033071.3(SYNE1):c.3016G>A (p.Glu1006Lys) http://identifiers.org/clinvar/281137 ^@ NM_015294.4(TRIM37):c.1919G>A (p.Arg640His) http://identifiers.org/clinvar/281138 ^@ NM_000443.3(ABCB4):c.1314G>A (p.Thr438=) http://identifiers.org/clinvar/281139 ^@ NM_000443.3(ABCB4):c.2800G>A (p.Ala934Thr) http://identifiers.org/clinvar/281140 ^@ NM_001130987.1(DYSF):c.460+2T>G http://identifiers.org/clinvar/281141 ^@ NM_000231.2(SGCG):c.196-7_196-6delTT http://identifiers.org/clinvar/281142 ^@ NM_000384.2(APOB):c.3383G>A (p.Arg1128His) http://identifiers.org/clinvar/281145 ^@ NM_003923.2(FOXH1):c.984C>G (p.Asp328Glu) http://identifiers.org/clinvar/281148 ^@ NM_000023.3(SGCA):c.37+6T>C http://identifiers.org/clinvar/281151 ^@ NM_182914.2(SYNE2):c.4994C>T (p.Ala1665Val) http://identifiers.org/clinvar/281152 ^@ NM_000528.3(MAN2B1):c.1383C>A (p.Tyr461Ter) http://identifiers.org/clinvar/281154 ^@ NM_194318.3(B3GLCT):c.1134C>T (p.Tyr378=) http://identifiers.org/clinvar/281155 ^@ NM_004484.3(GPC3):c.338-6_338-5delTT http://identifiers.org/clinvar/281156 ^@ NM_017617.4(NOTCH1):c.*6G>A http://identifiers.org/clinvar/281158 ^@ NM_001291415.1(KDM6A):c.2859-5delT http://identifiers.org/clinvar/281160 ^@ NM_033071.3(SYNE1):c.4631G>A (p.Arg1544Gln) http://identifiers.org/clinvar/281161 ^@ NM_000487.5(ARSA):c.243C>T (p.Gly81=) http://identifiers.org/clinvar/281162 ^@ NM_001267550.2(TTN):c.30683-3dupT http://identifiers.org/clinvar/281163 ^@ NM_014956.4(CEP164):c.4228C>T (p.Gln1410Ter) http://identifiers.org/clinvar/281164 ^@ NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp) http://identifiers.org/clinvar/281165 ^@ NM_002892.3(ARID4A):c.3211+1G>A http://identifiers.org/clinvar/281166 ^@ NM_001142301.1(TMEM67):c.-62+636_-62+638delTTT http://identifiers.org/clinvar/281167 ^@ NM_057174.2(PEX16):c.953-67C>T http://identifiers.org/clinvar/281168 ^@ NM_000492.3(CFTR):c.1210-7_1210-6delTT http://identifiers.org/clinvar/281169 ^@ NM_001171.5(ABCC6):c.3507-3C>T http://identifiers.org/clinvar/281170 ^@ NM_001111125.2(IQSEC2):c.2322T>C (p.Tyr774=) http://identifiers.org/clinvar/281171 ^@ NM_000875.4(IGF1R):c.225C>T (p.Phe75=) http://identifiers.org/clinvar/281172 ^@ NM_000082.3(ERCC8):c.510T>C (p.Leu170=) http://identifiers.org/clinvar/281173 ^@ NM_000492.3(CFTR):c.1234_1238delGCAAA (p.Ala412Thrfs) http://identifiers.org/clinvar/281174 ^@ NM_001080463.1(DYNC2H1):c.3574-9_3574-8delTT http://identifiers.org/clinvar/281175 ^@ NM_033071.3(SYNE1):c.16994-10dupT http://identifiers.org/clinvar/281176 ^@ NM_182914.2(SYNE2):c.1129-4dupT http://identifiers.org/clinvar/281177 ^@ NM_001609.3(ACADSB):c.295C>T (p.Gln99Ter) http://identifiers.org/clinvar/281179 ^@ NM_004006.2(DMD):c.31+36947G>A http://identifiers.org/clinvar/281180 ^@ NM_000089.3(COL1A2):c.1252-7dupT http://identifiers.org/clinvar/281181 ^@ NM_015102.4(NPHP4):c.1024C>T (p.Arg342Cys) http://identifiers.org/clinvar/281184 ^@ NM_000070.2(CAPN3):c.2051-1G>T http://identifiers.org/clinvar/281188 ^@ NM_006790.2(MYOT):c.240C>T (p.Asn80=) http://identifiers.org/clinvar/281189 ^@ NM_000303.2(PMM2):c.693G>A (p.Val231=) http://identifiers.org/clinvar/281191 ^@ NM_002310.5(LIFR):c.954C>T (p.Thr318=) http://identifiers.org/clinvar/281192 ^@ NM_182914.2(SYNE2):c.10494A>G (p.Thr3498=) http://identifiers.org/clinvar/281195 ^@ NM_004006.2(DMD):c.8217+18052A>G http://identifiers.org/clinvar/281196 ^@ NM_182914.2(SYNE2):c.20062-119G>C http://identifiers.org/clinvar/281197 ^@ NM_001130987.1(DYSF):c.5003+1249G>T http://identifiers.org/clinvar/281198 ^@ NM_024570.3(RNASEH2B):c.925dupA (p.Ile309Asnfs) http://identifiers.org/clinvar/281199 ^@ NM_002335.3(LRP5):c.4458G>T (p.Ser1486=) http://identifiers.org/clinvar/281200 ^@ NM_001039958.1(MESP2):c.558_569delGGGGCAGGGGCA (p.Gln202_Gly205del) http://identifiers.org/clinvar/281201 ^@ NM_001039958.1(MESP2):c.558_581del24 (p.Gln198_Gly205del) http://identifiers.org/clinvar/281204 ^@ NM_080605.3(B3GALT6):c.522G>C (p.Glu174Asp) http://identifiers.org/clinvar/281205 ^@ NM_001127464.2(ZNF469):c.4259C>T (p.Pro1420Leu) http://identifiers.org/clinvar/281206 ^@ NM_014363.5(SACS):c.2996T>C (p.Ile999Thr) http://identifiers.org/clinvar/281207 ^@ NM_153026.2(PRICKLE1):c.1601G>A (p.Arg534Gln) http://identifiers.org/clinvar/281208 ^@ NM_001277313.1(FMN1):c.2670C>T (p.Pro890=) http://identifiers.org/clinvar/281209 ^@ NM_019066.4(MAGEL2):c.1387G>C (p.Ala463Pro) http://identifiers.org/clinvar/281210 ^@ NM_006996.2(SLC19A2):c.1322T>C (p.Ile441Thr) http://identifiers.org/clinvar/281211 ^@ NM_000433.3(NCF2):c.1256A>T (p.Asn419Ile) http://identifiers.org/clinvar/281212 ^@ NM_002470.3(MYH3):c.850T>G (p.Tyr284Asp) http://identifiers.org/clinvar/281213 ^@ NM_001999.3(FBN2):c.1913G>C (p.Ser638Thr) http://identifiers.org/clinvar/281214 ^@ NM_001177317.1(SLC34A3):c.757T>C (p.Leu253=) http://identifiers.org/clinvar/281217 ^@ NC_000023.10:g.73641791T>C http://identifiers.org/clinvar/281218 ^@ NM_005876.4(SPEG):c.6076C>G (p.Arg2026Gly) http://identifiers.org/clinvar/281219 ^@ NM_002025.3(AFF2):c.1842G>T (p.Leu614Phe) http://identifiers.org/clinvar/281220 ^@ NM_002181.3(IHH):c.315+8C>T http://identifiers.org/clinvar/281221 ^@ NM_000057.3(BLM):c.2515A>G (p.Lys839Glu) http://identifiers.org/clinvar/281222 ^@ NM_000231.2(SGCG):c.196-6dupT http://identifiers.org/clinvar/281223 ^@ NM_201379.2(PLEC):c.6855G>A (p.Leu2285=) http://identifiers.org/clinvar/281224 ^@ NM_201382.3(PLEC):c.1733A>G (p.Asp578Gly) http://identifiers.org/clinvar/281225 ^@ NM_004369.3(COL6A3):c.2343G>A (p.Ala781=) http://identifiers.org/clinvar/281226 ^@ NM_001267550.2(TTN):c.95234T>G (p.Val31745Gly) http://identifiers.org/clinvar/281227 ^@ NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter) http://identifiers.org/clinvar/281228 ^@ NM_000445.4(PLEC):c.3932T>C (p.Leu1311Pro) http://identifiers.org/clinvar/281229 ^@ NM_000642.2(AGL):c.2681+1G>A http://identifiers.org/clinvar/281230 ^@ NM_000359.2(TGM1):c.758-2A>G http://identifiers.org/clinvar/281232 ^@ NM_000152.4(GAA):c.2152G>A (p.Val718Ile) http://identifiers.org/clinvar/281233 ^@ NM_033071.3(SYNE1):c.17426G>T (p.Arg5809Leu) http://identifiers.org/clinvar/281234 ^@ NM_001927.3(DES):c.735G>A (p.Glu245=) http://identifiers.org/clinvar/281235 ^@ NM_001130987.1(DYSF):c.5304C>A (p.Ser1768=) http://identifiers.org/clinvar/281236 ^@ NM_024753.4(TTC21B):c.2530A>G (p.Met844Val) http://identifiers.org/clinvar/281237 ^@ NM_001130987.1(DYSF):c.5266C>T (p.Arg1756Trp) http://identifiers.org/clinvar/281238 ^@ NM_182943.2(PLOD2):c.652A>G (p.Ile218Val) http://identifiers.org/clinvar/281239 ^@ NM_001918.3(DBT):c.1282-14_1282-10delTTTTT http://identifiers.org/clinvar/281240 ^@ NM_000152.4(GAA):c.2323C>A (p.Leu775Met) http://identifiers.org/clinvar/281241 ^@ NM_000152.4(GAA):c.2275G>A (p.Gly759Arg) http://identifiers.org/clinvar/281242 ^@ NM_138735.4(NRXN1):c.71_79delGCGGCGGCG (p.Gly24_Gly26del) http://identifiers.org/clinvar/281243 ^@ NM_005045.3(RELN):c.3477C>A (p.Asn1159Lys) http://identifiers.org/clinvar/281245 ^@ NM_003384.2(VRK1):c.175T>G (p.Ser59Ala) http://identifiers.org/clinvar/281246 ^@ NM_182914.2(SYNE2):c.2647-4_2647-3dupTT http://identifiers.org/clinvar/281247 ^@ NM_000316.2(PTH1R):c.448C>T (p.Arg150Cys) http://identifiers.org/clinvar/281249 ^@ NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) http://identifiers.org/clinvar/281250 ^@ NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) http://identifiers.org/clinvar/281254 ^@ NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp) http://identifiers.org/clinvar/281257 ^@ NM_001267550.2(TTN):c.6062G>A (p.Arg2021Gln) http://identifiers.org/clinvar/281258 ^@ NM_004006.2(DMD):c.1059G>A (p.Ser353=) http://identifiers.org/clinvar/281259 ^@ NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) http://identifiers.org/clinvar/281260 ^@ NM_001256850.1(TTN):c.62425+1G>A http://identifiers.org/clinvar/281261 ^@ NM_001267550.2(TTN):c.55461A>G (p.Lys18487=) http://identifiers.org/clinvar/281262 ^@ NM_004006.2(DMD):c.8126A>C (p.Glu2709Ala) http://identifiers.org/clinvar/281263 ^@ NM_007171.3(POMT1):c.568C>T (p.Leu190=) http://identifiers.org/clinvar/281264 ^@ NM_201382.3(PLEC):c.6605A>G (p.Lys2202Arg) http://identifiers.org/clinvar/281265 ^@ NM_201381.2(PLEC):c.8749C>T (p.Arg2917Trp) http://identifiers.org/clinvar/281266 ^@ NM_001376.4(DYNC1H1):c.13557G>A (p.Ala4519=) http://identifiers.org/clinvar/281267 ^@ NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) http://identifiers.org/clinvar/281268 ^@ NM_000515.4(GH1):c.363T>A (p.Ser121Arg) http://identifiers.org/clinvar/281269 ^@ NM_020361.4(CPA6):c.799G>A (p.Gly267Arg) http://identifiers.org/clinvar/281270 ^@ NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) http://identifiers.org/clinvar/281271 ^@ NM_201383.2(PLEC):c.5993T>C (p.Leu1998Pro) http://identifiers.org/clinvar/281272 ^@ NM_058246.3(DNAJB6):c.279C>T (p.Phe93=) http://identifiers.org/clinvar/281273 ^@ NM_182914.2(SYNE2):c.6685C>G (p.Leu2229Val) http://identifiers.org/clinvar/281274 ^@ NM_000152.4(GAA):c.2423C>T (p.Pro808Leu) http://identifiers.org/clinvar/281275 ^@ NM_201379.2(PLEC):c.1889C>T (p.Thr630Ile) http://identifiers.org/clinvar/281276 ^@ NM_015295.2(SMCHD1):c.150C>G (p.Arg50=) http://identifiers.org/clinvar/281277 ^@ NM_015295.2(SMCHD1):c.1086A>G (p.Ile362Met) http://identifiers.org/clinvar/281278 ^@ NM_033071.3(SYNE1):c.21782A>C (p.His7261Pro) http://identifiers.org/clinvar/281279 ^@ NM_201380.3(PLEC):c.11935G>A (p.Glu3979Lys) http://identifiers.org/clinvar/281280 ^@ NM_201383.2(PLEC):c.8672A>G (p.Lys2891Arg) http://identifiers.org/clinvar/281281 ^@ NM_201382.3(PLEC):c.12876G>A (p.Val4292=) http://identifiers.org/clinvar/281282 ^@ NM_201379.2(PLEC):c.7974C>T (p.Asp2658=) http://identifiers.org/clinvar/281283 ^@ NM_007171.3(POMT1):c.1215C>T (p.His405=) http://identifiers.org/clinvar/281284 ^@ NM_182914.2(SYNE2):c.3885C>G (p.His1295Gln) http://identifiers.org/clinvar/281285 ^@ NM_001267550.2(TTN):c.48169A>G (p.Ser16057Gly) http://identifiers.org/clinvar/281286 ^@ NM_000023.3(SGCA):c.155T>G (p.Val52Gly) http://identifiers.org/clinvar/281287 ^@ NM_000445.4(PLEC):c.11006A>G (p.Tyr3669Cys) http://identifiers.org/clinvar/281288 ^@ NM_000231.2(SGCG):c.267A>G (p.Pro89=) http://identifiers.org/clinvar/281289 ^@ NM_001848.2(COL6A1):c.665G>A (p.Arg222His) http://identifiers.org/clinvar/281290 ^@ NM_001128227.2(GNE):c.697_698insATTC (p.Arg233Hisfs) http://identifiers.org/clinvar/281291 ^@ NM_001128227.2(GNE):c.1096C>T (p.Arg366Trp) http://identifiers.org/clinvar/281292 ^@ NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) http://identifiers.org/clinvar/281293 ^@ NM_033071.3(SYNE1):c.20075C>T (p.Ser6692Leu) http://identifiers.org/clinvar/281294 ^@ NM_000445.4(PLEC):c.4527G>A (p.Ala1509=) http://identifiers.org/clinvar/281295 ^@ NM_182961.3(SYNE1):c.4884G>A (p.Glu1628=) http://identifiers.org/clinvar/281296 ^@ NM_182914.2(SYNE2):c.12189C>T (p.Thr4063=) http://identifiers.org/clinvar/281297 ^@ NM_033071.3(SYNE1):c.24342C>T (p.Ile8114=) http://identifiers.org/clinvar/281298 ^@ NM_170707.3(LMNA):c.829T>C (p.Ser277Pro) http://identifiers.org/clinvar/281299 ^@ NM_000152.4(GAA):c.1320G>T (p.Met440Ile) http://identifiers.org/clinvar/281300 ^@ NM_004369.3(COL6A3):c.3852C>T (p.Phe1284=) http://identifiers.org/clinvar/281301 ^@ NM_001130987.1(DYSF):c.3541G>A (p.Asp1181Asn) http://identifiers.org/clinvar/281302 ^@ NM_001267550.2(TTN):c.59031A>G (p.Pro19677=) http://identifiers.org/clinvar/281303 ^@ NM_182914.2(SYNE2):c.11944A>G (p.Asn3982Asp) http://identifiers.org/clinvar/281304 ^@ NM_001267550.2(TTN):c.15507C>T (p.Thr5169=) http://identifiers.org/clinvar/281305 ^@ NM_004006.2(DMD):c.8520A>G (p.Ala2840=) http://identifiers.org/clinvar/281306 ^@ NM_033071.3(SYNE1):c.4183C>T (p.Arg1395Trp) http://identifiers.org/clinvar/281307 ^@ NM_182914.2(SYNE2):c.2560C>G (p.Gln854Glu) http://identifiers.org/clinvar/281308 ^@ NM_213599.2(ANO5):c.1042G>A (p.Gly348Ser) http://identifiers.org/clinvar/281309 ^@ NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys) http://identifiers.org/clinvar/281310 ^@ NM_182914.2(SYNE2):c.14486G>A (p.Cys4829Tyr) http://identifiers.org/clinvar/281311 ^@ NM_001849.3(COL6A2):c.1614C>T (p.Gly538=) http://identifiers.org/clinvar/281312 ^@ NM_004006.2(DMD):c.5358T>C (p.Phe1786=) http://identifiers.org/clinvar/281313 ^@ NM_001267550.2(TTN):c.57360T>A (p.Pro19120=) http://identifiers.org/clinvar/281314 ^@ NM_001267550.2(TTN):c.47794T>C (p.Tyr15932His) http://identifiers.org/clinvar/281315 ^@ NM_201382.3(PLEC):c.11387C>A (p.Ala3796Asp) http://identifiers.org/clinvar/281316 ^@ NM_001267550.2(TTN):c.83324T>C (p.Ile27775Thr) http://identifiers.org/clinvar/281317 ^@ NM_000445.4(PLEC):c.4447G>A (p.Val1483Met) http://identifiers.org/clinvar/281318 ^@ NM_152841.2(HPS4):c.542C>T (p.Ser181Leu) http://identifiers.org/clinvar/281319 ^@ NM_000433.3(NCF2):c.890T>C (p.Val297Ala) http://identifiers.org/clinvar/281320 ^@ NM_152841.2(HPS4):c.1207G>A (p.Ala403Thr) http://identifiers.org/clinvar/281321 ^@ NM_033012.3(TNFSF11):c.718G>A (p.Val240Ile) http://identifiers.org/clinvar/281322 ^@ NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) http://identifiers.org/clinvar/281323 ^@ NM_000440.2(PDE6A):c.908C>G (p.Ser303Cys) http://identifiers.org/clinvar/281324 ^@ NM_001297.4(CNGB1):c.1580C>T (p.Ala527Val) http://identifiers.org/clinvar/281325 ^@ NM_001142800.1(EYS):c.6794delC (p.Pro2265Glnfs) http://identifiers.org/clinvar/281326 ^@ NM_182894.2(VSX2):c.714G>A (p.Lys238=) http://identifiers.org/clinvar/281327 ^@ NM_207361.5(FREM2):c.4331T>C (p.Leu1444Pro) http://identifiers.org/clinvar/281328 ^@ NM_207361.5(FREM2):c.4321A>G (p.Thr1441Ala) http://identifiers.org/clinvar/281329 ^@ NM_000543.4(SMPD1):c.108_125del18 (p.Ala44_Leu49del) http://identifiers.org/clinvar/281330 ^@ NM_000152.4(GAA):c.1352C>G (p.Pro451Arg) http://identifiers.org/clinvar/281331 ^@ NM_001875.4(CPS1):c.1030A>T (p.Thr344Ser) http://identifiers.org/clinvar/281332 ^@ NM_000255.3(MUT):c.1599T>A (p.Cys533Ter) http://identifiers.org/clinvar/281333 ^@ NM_000642.2(AGL):c.3203A>G (p.Tyr1068Cys) http://identifiers.org/clinvar/281334 ^@ NM_183050.3(BCKDHB):c.51A>C (p.Ala17=) http://identifiers.org/clinvar/281335 ^@ NM_000089.3(COL1A2):c.2738G>T (p.Gly913Val) http://identifiers.org/clinvar/281336 ^@ NM_000033.3(ABCD1):c.1166G>A (p.Arg389His) http://identifiers.org/clinvar/281338 ^@ NM_019109.4(ALG1):c.115delG (p.Val39Cysfs) http://identifiers.org/clinvar/281339 ^@ NM_015884.3(MBTPS2):c.727C>T (p.Pro243Ser) http://identifiers.org/clinvar/281340 ^@ NM_175073.2(APTX):c.762G>A (p.Pro254=) http://identifiers.org/clinvar/281341 ^@ NM_000548.4(TSC2):c.3366T>C (p.Arg1122=) http://identifiers.org/clinvar/281342 ^@ NM_006031.5(PCNT):c.9217G>A (p.Val3073Met) http://identifiers.org/clinvar/281343 ^@ NM_001159772.1(CANT1):c.1134G>A (p.Thr378=) http://identifiers.org/clinvar/281344 ^@ NM_052985.3(IFT122):c.2188delA (p.Ser730Alafs) http://identifiers.org/clinvar/281345 ^@ NM_001159772.1(CANT1):c.*9G>A http://identifiers.org/clinvar/281346 ^@ NM_017653.3(DYM):c.144T>C (p.Ser48=) http://identifiers.org/clinvar/281347 ^@ NM_147127.4(EVC2):c.2758C>T (p.Leu920Phe) http://identifiers.org/clinvar/281348 ^@ NM_014780.4(CUL7):c.1073G>A (p.Arg358His) http://identifiers.org/clinvar/281349 ^@ NM_000138.4(FBN1):c.7776C>T (p.Cys2592=) http://identifiers.org/clinvar/281350 ^@ NM_000067.2(CA2):c.660G>A (p.Glu220=) http://identifiers.org/clinvar/281351 ^@ NM_001080463.1(DYNC2H1):c.12602C>T (p.Ser4201Phe) http://identifiers.org/clinvar/281352 ^@ NM_017653.3(DYM):c.946+7G>A http://identifiers.org/clinvar/281353 ^@ NM_014762.3(DHCR24):c.811C>A (p.Leu271Ile) http://identifiers.org/clinvar/281354 ^@ NM_001844.4(COL2A1):c.3961G>A (p.Glu1321Lys) http://identifiers.org/clinvar/281355 ^@ NM_003494.3(DYSF):c.6063C>T (p.Pro2021=) http://identifiers.org/clinvar/281356 ^@ NM_201384.2(PLEC):c.13182C>T (p.Thr4394=) http://identifiers.org/clinvar/281357 ^@ NM_000070.2(CAPN3):c.930T>C (p.Asp310=) http://identifiers.org/clinvar/281358 ^@ NM_001271208.1(NEB):c.8202C>T (p.Val2734=) http://identifiers.org/clinvar/281359 ^@ NM_001271208.1(NEB):c.6704A>C (p.His2235Pro) http://identifiers.org/clinvar/281360 ^@ NM_000070.2(CAPN3):c.1350C>T (p.Phe450=) http://identifiers.org/clinvar/281361 ^@ NM_201382.3(PLEC):c.381C>T (p.Asp127=) http://identifiers.org/clinvar/281362 ^@ NM_001271208.1(NEB):c.4221G>A (p.Gln1407=) http://identifiers.org/clinvar/281363 ^@ NM_001271208.1(NEB):c.8553G>A (p.Gly2851=) http://identifiers.org/clinvar/281364 ^@ NM_006517.4(SLC16A2):c.125_130dupAGCCCG (p.Pro43_Val44insGluPro) http://identifiers.org/clinvar/281365 ^@ NM_001008216.1(GALE):c.351+12G>A http://identifiers.org/clinvar/281366 ^@ NM_003482.3(KMT2D):c.192G>A (p.Arg64=) http://identifiers.org/clinvar/281367 ^@ NM_003282.3(TNNI2):c.102G>A (p.Glu34=) http://identifiers.org/clinvar/281368 ^@ NM_001271208.1(NEB):c.2166A>C (p.Ile722=) http://identifiers.org/clinvar/281369 ^@ NM_001271208.1(NEB):c.18862_18872delGTCCGAAACGC (p.Val6288Profs) http://identifiers.org/clinvar/281370 ^@ NM_001159702.2(FHL1):c.360C>T (p.Thr120=) http://identifiers.org/clinvar/281371 ^@ NM_001267550.2(TTN):c.19597G>A (p.Glu6533Lys) http://identifiers.org/clinvar/281372 ^@ NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) http://identifiers.org/clinvar/281373 ^@ NM_001271208.1(NEB):c.20296G>T (p.Gly6766Cys) http://identifiers.org/clinvar/281374 ^@ NM_001271208.1(NEB):c.21895G>C (p.Asp7299His) http://identifiers.org/clinvar/281375 ^@ NM_001018113.2(FANCB):c.1658C>T (p.Thr553Met) http://identifiers.org/clinvar/281376 ^@ NM_001018113.2(FANCB):c.1105-10_1105-3delTATTTATT http://identifiers.org/clinvar/281377 ^@ NM_138694.3(PKHD1):c.7977G>A (p.Pro2659=) http://identifiers.org/clinvar/281378 ^@ NM_000548.4(TSC2):c.849-8A>G http://identifiers.org/clinvar/281379 ^@ NM_001080463.1(DYNC2H1):c.3170G>A (p.Arg1057His) http://identifiers.org/clinvar/281380 ^@ NM_001029883.2(C2orf71):c.958C>T (p.Arg320Cys) http://identifiers.org/clinvar/281381 ^@ NM_001008216.1(GALE):c.53C>T (p.Thr18Met) http://identifiers.org/clinvar/281382 ^@ NM_005249.4(FOXG1):c.251C>G (p.Pro84Arg) http://identifiers.org/clinvar/281383 ^@ NM_014780.4(CUL7):c.2767-13_2767-12insTCTCT http://identifiers.org/clinvar/281384 ^@ NM_000548.4(TSC2):c.2294C>T (p.Ala765Val) http://identifiers.org/clinvar/281385 ^@ NM_000540.2(RYR1):c.6904C>T (p.Leu2302=) http://identifiers.org/clinvar/281386 ^@ NM_001267550.2(TTN):c.22990G>T (p.Ala7664Ser) http://identifiers.org/clinvar/281387 ^@ NM_001267550.2(TTN):c.26762-24_26762-10delTTTGTTTTGTTTTGT http://identifiers.org/clinvar/281388 ^@ NM_000023.3(SGCA):c.819G>T (p.Pro273=) http://identifiers.org/clinvar/281389 ^@ NM_005609.3(PYGM):c.2446C>T (p.Arg816Cys) http://identifiers.org/clinvar/281390 ^@ NM_001271208.1(NEB):c.1206C>T (p.Cys402=) http://identifiers.org/clinvar/281391 ^@ NM_201380.3(PLEC):c.4998C>T (p.Arg1666=) http://identifiers.org/clinvar/281392 ^@ NM_000445.4(PLEC):c.5568C>T (p.Ala1856=) http://identifiers.org/clinvar/281393 ^@ NM_004560.3(ROR2):c.1565G>A (p.Arg522Gln) http://identifiers.org/clinvar/281394 ^@ NM_001429.3(EP300):c.3030C>G (p.Thr1010=) http://identifiers.org/clinvar/281395 ^@ NM_000642.2(AGL):c.4124A>G (p.Tyr1375Cys) http://identifiers.org/clinvar/281396 ^@ NM_001127628.1(FBP1):c.840C>T (p.Tyr280=) http://identifiers.org/clinvar/281397 ^@ NM_130838.1(UBE3A):c.1668G>A (p.Val556=) http://identifiers.org/clinvar/281398 ^@ NM_005378.5(MYCN):c.817G>T (p.Glu273Ter) http://identifiers.org/clinvar/281399 ^@ NM_013372.6(GREM1):c.103C>G (p.Pro35Ala) http://identifiers.org/clinvar/281400 ^@ NM_006037.3(HDAC4):c.1794G>A (p.Glu598=) http://identifiers.org/clinvar/281401 ^@ NM_001017420.2(ESCO2):c.1094G>A (p.Arg365Lys) http://identifiers.org/clinvar/281402 ^@ NM_201382.3(PLEC):c.4187G>A (p.Arg1396His) http://identifiers.org/clinvar/281403 ^@ NM_001035.2(RYR2):c.6571A>G (p.Lys2191Glu) http://identifiers.org/clinvar/281404 ^@ NM_001267550.2(TTN):c.68824+5G>C http://identifiers.org/clinvar/281405 ^@ NM_001267550.2(TTN):c.98509G>A (p.Glu32837Lys) http://identifiers.org/clinvar/281406 ^@ NM_002905.3(RDH5):c.733+6T>C http://identifiers.org/clinvar/281407 ^@ NM_002905.3(RDH5):c.814_815delCT (p.Leu272Aspfs) http://identifiers.org/clinvar/281408 ^@ NM_005592.3(MUSK):c.665A>G (p.Asn222Ser) http://identifiers.org/clinvar/281409 ^@ NM_173660.4(DOK7):c.1029C>T (p.Gly343=) http://identifiers.org/clinvar/281410 ^@ NM_173630.3(RTTN):c.3048G>A (p.Pro1016=) http://identifiers.org/clinvar/281411 ^@ NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter) http://identifiers.org/clinvar/281412 ^@ NM_004006.2(DMD):c.5032C>T (p.Gln1678Ter) http://identifiers.org/clinvar/281413 ^@ NM_153240.4(NPHP3):c.3494G>A (p.Arg1165Gln) http://identifiers.org/clinvar/281414 ^@ NM_000214.2(JAG1):c.2728dupG (p.Glu910Glyfs) http://identifiers.org/clinvar/281415 ^@ NM_021830.4(TWNK):c.384C>T (p.Ser128=) http://identifiers.org/clinvar/281416 ^@ NM_015346.3(ZFYVE26):c.806G>A (p.Arg269Gln) http://identifiers.org/clinvar/281417 ^@ NM_022912.2(REEP1):c.582C>T (p.Ser194=) http://identifiers.org/clinvar/281418 ^@ NM_001168272.1(ITPR1):c.1841+7C>T http://identifiers.org/clinvar/281419 ^@ NM_006702.4(PNPLA6):c.56T>C (p.Val19Ala) http://identifiers.org/clinvar/281420 ^@ NM_181882.2(PRX):c.2097G>A (p.Met699Ile) http://identifiers.org/clinvar/281421 ^@ NM_005677.3(COLQ):c.529-2A>G http://identifiers.org/clinvar/281422 ^@ NM_004006.2(DMD):c.4297G>C (p.Gly1433Arg) http://identifiers.org/clinvar/281423 ^@ NM_000751.2(CHRND):c.919C>T (p.Pro307Ser) http://identifiers.org/clinvar/281424 ^@ NM_173660.4(DOK7):c.1278C>T (p.Pro426=) http://identifiers.org/clinvar/281425 ^@ NM_000088.3(COL1A1):c.1875+1G>C http://identifiers.org/clinvar/281426 ^@ NM_000460.3(THPO):c.518T>C (p.Val173Ala) http://identifiers.org/clinvar/281427 ^@ NM_002546.3(TNFRSF11B):c.96C>T (p.Asp32=) http://identifiers.org/clinvar/281428 ^@ NM_080629.2(COL11A1):c.2277+6T>C http://identifiers.org/clinvar/281429 ^@ NM_004560.3(ROR2):c.1736A>T (p.Asp579Val) http://identifiers.org/clinvar/281430 ^@ NM_015170.2(SULF1):c.901G>A (p.Val301Met) http://identifiers.org/clinvar/281431 ^@ NM_001177317.1(SLC34A3):c.1140C>T (p.Leu380=) http://identifiers.org/clinvar/281432 ^@ NM_001457.3(FLNB):c.6003C>T (p.Asp2001=) http://identifiers.org/clinvar/281433 ^@ NM_014140.3(SMARCAL1):c.1485+10C>T http://identifiers.org/clinvar/281434 ^@ NM_001008537.2(KIAA2022):c.640delG (p.Ala214Glnfs) http://identifiers.org/clinvar/281435 ^@ NM_004006.2(DMD):c.1934A>G (p.Asp645Gly) http://identifiers.org/clinvar/281436 ^@ NM_000493.3(COL10A1):c.1016C>T (p.Pro339Leu) http://identifiers.org/clinvar/281437 ^@ NM_025237.2(SOST):c.429C>T (p.Arg143=) http://identifiers.org/clinvar/281438 ^@ NM_080629.2(COL11A1):c.3686C>T (p.Pro1229Leu) http://identifiers.org/clinvar/281439 ^@ NM_001177317.1(SLC34A3):c.769A>G (p.Met257Val) http://identifiers.org/clinvar/281440 ^@ NM_001080463.1(DYNC2H1):c.7597C>T (p.Arg2533Cys) http://identifiers.org/clinvar/281441 ^@ NM_001080463.1(DYNC2H1):c.2862A>G (p.Glu954=) http://identifiers.org/clinvar/281442 ^@ NM_001793.5(CDH3):c.2042G>A (p.Arg681Gln) http://identifiers.org/clinvar/281443 ^@ NM_080629.2(COL11A1):c.4895-3T>C http://identifiers.org/clinvar/281444 ^@ NM_002310.5(LIFR):c.653dupT (p.Glu219Glyfs) http://identifiers.org/clinvar/281445 ^@ NM_020638.2(FGF23):c.573C>T (p.Asn191=) http://identifiers.org/clinvar/281446 ^@ NM_000388.3(CASR):c.885C>T (p.Ala295=) http://identifiers.org/clinvar/281447 ^@ NM_014714.3(IFT140):c.*2G>A http://identifiers.org/clinvar/281448 ^@ NM_001457.3(FLNB):c.5043G>A (p.Pro1681=) http://identifiers.org/clinvar/281449 ^@ NM_004369.3(COL6A3):c.2984C>T (p.Ala995Val) http://identifiers.org/clinvar/281450 ^@ NM_022137.5(SMOC1):c.832C>T (p.Arg278Cys) http://identifiers.org/clinvar/281451 ^@ NM_030751.5(ZEB1):c.2843_2846delTTGA (p.Ile948Asnfs) http://identifiers.org/clinvar/281452 ^@ NM_005045.3(RELN):c.5211-7dupT http://identifiers.org/clinvar/281453 ^@ NM_006059.3(LAMC3):c.4031-10G>A http://identifiers.org/clinvar/281454 ^@ NM_198525.2(KIF7):c.2897C>T (p.Ala966Val) http://identifiers.org/clinvar/281455 ^@ NM_001614.3(ACTG1):c.693A>G (p.Ala231=) http://identifiers.org/clinvar/281456 ^@ NM_173630.3(RTTN):c.4884T>C (p.Ala1628=) http://identifiers.org/clinvar/281457 ^@ NM_006208.2(ENPP1):c.2633T>C (p.Val878Ala) http://identifiers.org/clinvar/281458 ^@ NM_213599.2(ANO5):c.279C>T (p.Asp93=) http://identifiers.org/clinvar/281459 ^@ NM_006371.4(CRTAP):c.1106A>G (p.Lys369Arg) http://identifiers.org/clinvar/281460 ^@ NM_032119.3(ADGRV1):c.8295G>T (p.Leu2765Phe) http://identifiers.org/clinvar/281461 ^@ NM_020686.5(ABAT):c.446C>T (p.Ser149Leu) http://identifiers.org/clinvar/281462 ^@ NM_000833.4(GRIN2A):c.2890delC (p.Gln964Lysfs) http://identifiers.org/clinvar/281463 ^@ NM_207346.2(TSEN54):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/281464 ^@ NM_025074.6(FRAS1):c.11605A>G (p.Ile3869Val) http://identifiers.org/clinvar/281465 ^@ NM_025074.6(FRAS1):c.11718T>C (p.Ile3906=) http://identifiers.org/clinvar/281466 ^@ NM_025074.6(FRAS1):c.10594A>G (p.Ile3532Val) http://identifiers.org/clinvar/281467 ^@ NM_025074.6(FRAS1):c.11724T>C (p.Ser3908=) http://identifiers.org/clinvar/281468 ^@ NM_025074.6(FRAS1):c.10539A>G (p.Thr3513=) http://identifiers.org/clinvar/281469 ^@ NM_025074.6(FRAS1):c.11907C>G (p.His3969Gln) http://identifiers.org/clinvar/281470 ^@ NM_030578.3(B9D2):c.496C>T (p.Arg166Cys) http://identifiers.org/clinvar/281471 ^@ NM_001277115.1(DNAH11):c.9499A>C (p.Thr3167Pro) http://identifiers.org/clinvar/281472 ^@ NM_178170.2(NEK8):c.1000G>A (p.Val334Met) http://identifiers.org/clinvar/281473 ^@ NM_001029883.2(C2orf71):c.1215C>T (p.Gly405=) http://identifiers.org/clinvar/281474 ^@ NM_148898.3(FOXP2):c.555_557dupGCA (p.Gln216_His217insGln) http://identifiers.org/clinvar/281475 ^@ NM_001875.4(CPS1):c.1030_1032delACCinsTCT (p.Thr344Ser) http://identifiers.org/clinvar/281476 ^@ NM_001875.4(CPS1):c.1030_1032delACCinsGCT (p.Thr344Ala) http://identifiers.org/clinvar/281477 ^@ NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) http://identifiers.org/clinvar/281478 ^@ NM_004543.4(NEB):c.15551C>T (p.Ala5184Val) http://identifiers.org/clinvar/281479 ^@ NM_000540.2(RYR1):c.10648C>T (p.Arg3550Trp) http://identifiers.org/clinvar/281480 ^@ NM_000540.2(RYR1):c.12315_12328delAGAAATCCAGTTCC (p.Glu4106Alafs) http://identifiers.org/clinvar/281481 ^@ NM_000445.4(PLEC):c.9432C>T (p.Phe3144=) http://identifiers.org/clinvar/281482 ^@ NM_001165928.3(DAG1):c.2575A>C (p.Asn859His) http://identifiers.org/clinvar/281483 ^@ NM_004006.2(DMD):c.6232C>T (p.Leu2078Phe) http://identifiers.org/clinvar/281484 ^@ NM_022455.4(NSD1):c.2266A>G (p.Asn756Asp) http://identifiers.org/clinvar/281485 ^@ NM_001271208.1(NEB):c.1872G>T (p.Leu624Phe) http://identifiers.org/clinvar/281486 ^@ NM_001278074.1(COL5A1):c.2034+1G>A http://identifiers.org/clinvar/281487 ^@ NM_004006.2(DMD):c.1813-3C>A http://identifiers.org/clinvar/281488 ^@ NM_001849.3(COL6A2):c.2001C>T (p.His667=) http://identifiers.org/clinvar/281489 ^@ NM_001360.2(DHCR7):c.91C>T (p.Arg31Cys) http://identifiers.org/clinvar/281490 ^@ NM_022437.2(ABCG8):c.172C>G (p.Leu58Val) http://identifiers.org/clinvar/281491 ^@ NM_022436.2(ABCG5):c.1458C>T (p.Cys486=) http://identifiers.org/clinvar/281492 ^@ NM_000287.3(PEX6):c.2148G>A (p.Glu716=) http://identifiers.org/clinvar/281493 ^@ NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) http://identifiers.org/clinvar/281494 ^@ NM_006662.2(SRCAP):c.2651C>T (p.Thr884Ile) http://identifiers.org/clinvar/281495 ^@ NM_004560.3(ROR2):c.1686C>T (p.His562=) http://identifiers.org/clinvar/281496 ^@ NM_001360.2(DHCR7):c.1099C>T (p.Arg367Cys) http://identifiers.org/clinvar/281497 ^@ NM_006662.2(SRCAP):c.3484C>T (p.Pro1162Ser) http://identifiers.org/clinvar/281498 ^@ NM_001497.3(B4GALT1):c.864T>G (p.Gly288=) http://identifiers.org/clinvar/281499 ^@ NM_001497.3(B4GALT1):c.867C>G (p.Val289=) http://identifiers.org/clinvar/281500 ^@ NM_006302.2(MOGS):c.2055T>C (p.Tyr685=) http://identifiers.org/clinvar/281501 ^@ NM_025243.3(SLC19A3):c.801A>G (p.Gln267=) http://identifiers.org/clinvar/281502 ^@ NM_152296.4(ATP1A3):c.154-5C>G http://identifiers.org/clinvar/281503 ^@ NM_145239.2(PRRT2):c.564G>A (p.Gln188=) http://identifiers.org/clinvar/281504 ^@ NM_004562.2(PRKN):c.1000C>T (p.Arg334Cys) http://identifiers.org/clinvar/281505 ^@ NM_000070.2(CAPN3):c.1250C>T (p.Thr417Met) http://identifiers.org/clinvar/281506 ^@ NM_001885.2(CRYAB):c.149G>A (p.Arg50Gln) http://identifiers.org/clinvar/281507 ^@ NM_182914.2(SYNE2):c.3474T>C (p.Asp1158=) http://identifiers.org/clinvar/281508 ^@ NM_000328.2(RPGR):c.1709C>T (p.Thr570Met) http://identifiers.org/clinvar/281509 ^@ NM_006269.1(RP1):c.3132A>C (p.Lys1044Asn) http://identifiers.org/clinvar/281510 ^@ NM_206933.2(USH2A):c.7051G>A (p.Ala2351Thr) http://identifiers.org/clinvar/281511 ^@ NM_005183.3(CACNA1F):c.5610C>T (p.Gly1870=) http://identifiers.org/clinvar/281512 ^@ NM_000539.3(RHO):c.558G>A (p.Ser186=) http://identifiers.org/clinvar/281513 ^@ NM_000326.4(RLBP1):c.488T>C (p.Ile163Thr) http://identifiers.org/clinvar/281514 ^@ NM_000823.3(GHRHR):c.57C>T (p.Thr19=) http://identifiers.org/clinvar/281515 ^@ NM_153426.2(PITX2):c.59C>T (p.Ala20Val) http://identifiers.org/clinvar/281516 ^@ NM_006662.2(SRCAP):c.5019G>A (p.Pro1673=) http://identifiers.org/clinvar/281517 ^@ NM_001927.3(DES):c.30C>A (p.Arg10=) http://identifiers.org/clinvar/281518 ^@ NM_182914.2(SYNE2):c.17823A>G (p.Leu5941=) http://identifiers.org/clinvar/281519 ^@ NM_022437.2(ABCG8):c.1645G>A (p.Ala549Thr) http://identifiers.org/clinvar/281520 ^@ NM_018668.4(VPS33B):c.842C>G (p.Ala281Gly) http://identifiers.org/clinvar/281521 ^@ NM_007325.4(GRIA3):c.397G>A (p.Ala133Thr) http://identifiers.org/clinvar/281522 ^@ NM_144969.2(ZDHHC15):c.951C>T (p.Asn317=) http://identifiers.org/clinvar/281523 ^@ NM_022977.2(ACSL4):c.968_969delAT (p.His323Argfs) http://identifiers.org/clinvar/281524 ^@ NM_000489.4(ATRX):c.7435A>G (p.Met2479Val) http://identifiers.org/clinvar/281526 ^@ NM_024757.4(EHMT1):c.1349_1352delAGAA (p.Lys450Serfs) http://identifiers.org/clinvar/281527 ^@ NM_004380.2(CREBBP):c.6612_6623delGCAGCAGCAACA (p.Gln2213_Gln2216del) http://identifiers.org/clinvar/281528 ^@ NM_014780.4(CUL7):c.4146T>C (p.Tyr1382=) http://identifiers.org/clinvar/281529 ^@ NM_000875.4(IGF1R):c.1102+6T>C http://identifiers.org/clinvar/281530 ^@ NM_000489.4(ATRX):c.3555G>C (p.Lys1185Asn) http://identifiers.org/clinvar/281531 ^@ NM_032682.5(FOXP1):c.169C>G (p.Gln57Glu) http://identifiers.org/clinvar/281532 ^@ NM_001206977.1(NR1H4):c.107C>T (p.Pro36Leu) http://identifiers.org/clinvar/281533 ^@ NM_000137.2(FAH):c.1079G>A (p.Gly360Asp) http://identifiers.org/clinvar/281534 ^@ NM_001267550.2(TTN):c.82422A>G (p.Ser27474=) http://identifiers.org/clinvar/281535 ^@ NM_006642.3(SDCCAG8):c.1963G>A (p.Val655Ile) http://identifiers.org/clinvar/281536 ^@ NM_004260.3(RECQL4):c.2976G>C (p.Leu992=) http://identifiers.org/clinvar/281537 ^@ NM_001399.4(EDA):c.741G>T (p.Gln247His) http://identifiers.org/clinvar/281538 ^@ NM_004187.3(KDM5C):c.108C>T (p.Pro36=) http://identifiers.org/clinvar/281539 ^@ NM_181332.2(NLGN4X):c.971A>G (p.Lys324Arg) http://identifiers.org/clinvar/281540 ^@ NM_019066.4(MAGEL2):c.1949A>G (p.Gln650Arg) http://identifiers.org/clinvar/281541 ^@ NM_030665.3(RAI1):c.3655C>T (p.Leu1219Phe) http://identifiers.org/clinvar/281542 ^@ NM_005045.3(RELN):c.4182A>G (p.Ser1394=) http://identifiers.org/clinvar/281543 ^@ NM_004463.2(FGD1):c.849C>T (p.Ser283=) http://identifiers.org/clinvar/281544 ^@ NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) http://identifiers.org/clinvar/281545 ^@ NM_031885.3(BBS2):c.279A>T (p.Leu93Phe) http://identifiers.org/clinvar/281546 ^@ NM_001844.4(COL2A1):c.1068G>A (p.Pro356=) http://identifiers.org/clinvar/281547 ^@ NM_207361.5(FREM2):c.4686T>C (p.Asp1562=) http://identifiers.org/clinvar/281548 ^@ NM_207361.5(FREM2):c.6925+7G>T http://identifiers.org/clinvar/281549 ^@ NM_025074.6(FRAS1):c.1897C>T (p.Arg633Cys) http://identifiers.org/clinvar/281550 ^@ NM_144966.5(FREM1):c.3575G>A (p.Arg1192His) http://identifiers.org/clinvar/281551 ^@ NM_001267550.2(TTN):c.83215T>A (p.Phe27739Ile) http://identifiers.org/clinvar/281552 ^@ NM_001267550.2(TTN):c.4837G>A (p.Ala1613Thr) http://identifiers.org/clinvar/281553 ^@ NM_005572.3(LMNA):c.149G>T (p.Arg50Leu) http://identifiers.org/clinvar/281554 ^@ NM_002334.3(LRP4):c.3407G>A (p.Arg1136Gln) http://identifiers.org/clinvar/281555 ^@ NM_022970.3(FGFR2):c.1208A>G (p.Asn403Ser) http://identifiers.org/clinvar/281556 ^@ NM_006037.3(HDAC4):c.2646A>G (p.Thr882=) http://identifiers.org/clinvar/281557 ^@ NM_014918.4(CHSY1):c.1325T>C (p.Met442Thr) http://identifiers.org/clinvar/281558 ^@ NM_005802.4(TOPORS):c.3040A>G (p.Asn1014Asp) http://identifiers.org/clinvar/281559 ^@ NM_001048166.1(STIL):c.859_861delTCT (p.Ser287del) http://identifiers.org/clinvar/281560 ^@ NM_014467.2(SRPX2):c.1224T>G (p.Phe408Leu) http://identifiers.org/clinvar/281561 ^@ NM_024596.4(MCPH1):c.2136G>T (p.Trp712Cys) http://identifiers.org/clinvar/281562 ^@ NM_032119.3(ADGRV1):c.17857-6T>C http://identifiers.org/clinvar/281563 ^@ NM_006031.5(PCNT):c.6635G>A (p.Arg2212Gln) http://identifiers.org/clinvar/281564 ^@ NM_030928.3(CDT1):c.*9G>A http://identifiers.org/clinvar/281565 ^@ NM_006031.5(PCNT):c.1281C>T (p.His427=) http://identifiers.org/clinvar/281566 ^@ NM_006059.3(LAMC3):c.1019G>A (p.Arg340Gln) http://identifiers.org/clinvar/281567 ^@ NM_000702.3(ATP1A2):c.2187T>C (p.Ile729=) http://identifiers.org/clinvar/281568 ^@ NM_173630.3(RTTN):c.4864G>A (p.Asp1622Asn) http://identifiers.org/clinvar/281569 ^@ NM_006031.5(PCNT):c.2033A>G (p.Lys678Arg) http://identifiers.org/clinvar/281570 ^@ NM_024757.4(EHMT1):c.3687C>T (p.Thr1229=) http://identifiers.org/clinvar/281571 ^@ NM_000368.4(TSC1):c.425T>C (p.Met142Thr) http://identifiers.org/clinvar/281572 ^@ NM_000310.3(PPT1):c.433G>A (p.Gly145Ser) http://identifiers.org/clinvar/281573 ^@ NM_001080522.2(CC2D2A):c.3501C>T (p.Asp1167=) http://identifiers.org/clinvar/281574 ^@ NM_003280.2(TNNC1):c.242T>C (p.Met81Thr) http://identifiers.org/clinvar/281575 ^@ NM_170708.3(LMNA):c.726G>A (p.Ala242=) http://identifiers.org/clinvar/281576 ^@ NM_017929.5(PEX26):c.29C>T (p.Ala10Val) http://identifiers.org/clinvar/281577 ^@ NM_004820.4(CYP7B1):c.260-5dupT http://identifiers.org/clinvar/281578 ^@ NM_017929.5(PEX26):c.558C>T (p.Ala186=) http://identifiers.org/clinvar/281579 ^@ NM_018849.2(ABCB4):c.3013G>A (p.Ala1005Thr) http://identifiers.org/clinvar/281580 ^@ NM_005045.3(RELN):c.5418C>T (p.Asp1806=) http://identifiers.org/clinvar/281581 ^@ NM_001614.3(ACTG1):c.231C>T (p.Thr77=) http://identifiers.org/clinvar/281582 ^@ NM_000141.4(FGFR2):c.1788G>A (p.Glu596=) http://identifiers.org/clinvar/281583 ^@ NM_006031.5(PCNT):c.930C>T (p.His310=) http://identifiers.org/clinvar/281584 ^@ NM_130468.3(CHST14):c.143C>T (p.Ala48Val) http://identifiers.org/clinvar/281585 ^@ NM_006726.4(LRBA):c.3269C>G (p.Ala1090Gly) http://identifiers.org/clinvar/281586 ^@ NM_001005741.2(GBA):c.580A>T (p.Lys194Ter) http://identifiers.org/clinvar/281587 ^@ NM_001005741.2(GBA):c.637C>T (p.Leu213Phe) http://identifiers.org/clinvar/281588 ^@ NM_133379.4(TTN):c.1232C>G (p.Thr411Ser) http://identifiers.org/clinvar/281589 ^@ NM_000540.2(RYR1):c.8733C>A (p.Leu2911=) http://identifiers.org/clinvar/281590 ^@ NM_000445.4(PLEC):c.8282C>T (p.Ala2761Val) http://identifiers.org/clinvar/281591 ^@ NM_017433.4(MYO3A):c.1991G>T (p.Arg664Leu) http://identifiers.org/clinvar/281592 ^@ NM_001128228.2(TPRN):c.1726-7C>T http://identifiers.org/clinvar/281593 ^@ NM_001128227.2(GNE):c.2008C>T (p.Gln670Ter) http://identifiers.org/clinvar/281594 ^@ NM_201384.2(PLEC):c.6842C>T (p.Ala2281Val) http://identifiers.org/clinvar/281595 ^@ NM_001497.3(B4GALT1):c.864_867delTGTCinsGGTG (p.Gly288_Val289=) http://identifiers.org/clinvar/281596 ^@ NM_001178007.1(BBS12):c.2020C>T (p.Arg674Cys) http://identifiers.org/clinvar/281597 ^@ NM_001178007.1(BBS12):c.1198G>A (p.Val400Met) http://identifiers.org/clinvar/281598 ^@ NM_152384.2(BBS5):c.750C>T (p.Ile250=) http://identifiers.org/clinvar/281599 ^@ NM_020451.2(SELENON):c.-12C>T http://identifiers.org/clinvar/281600 ^@ NM_001003791.2(ERLIN2):c.36C>A (p.Ser12=) http://identifiers.org/clinvar/281601 ^@ NM_000891.2(KCNJ2):c.616G>A (p.Gly206Ser) http://identifiers.org/clinvar/281602 ^@ NM_138364.3(PRMT9):c.773A>T (p.Asp258Val) http://identifiers.org/clinvar/281603 ^@ NM_022726.3(ELOVL4):c.931G>A (p.Ala311Thr) http://identifiers.org/clinvar/281604 ^@ NM_004643.3(PABPN1):c.169C>T (p.Pro57Ser) http://identifiers.org/clinvar/281605 ^@ NM_004552.2(NDUFS5):c.*18G>A http://identifiers.org/clinvar/281606 ^@ NM_017780.3(CHD7):c.5828G>A (p.Arg1943Gln) http://identifiers.org/clinvar/281607 ^@ NM_001040113.1(MYH11):c.4339C>T (p.Arg1447Trp) http://identifiers.org/clinvar/281608 ^@ NM_001080463.1(DYNC2H1):c.1550A>G (p.His517Arg) http://identifiers.org/clinvar/281609 ^@ NM_000138.4(FBN1):c.7057A>G (p.Ser2353Gly) http://identifiers.org/clinvar/281610 ^@ NM_020223.3(FAM20C):c.1652G>A (p.Arg551His) http://identifiers.org/clinvar/281611 ^@ NM_000142.4(FGFR3):c.1830C>G (p.Ser610=) http://identifiers.org/clinvar/281612 ^@ NM_000346.3(SOX9):c.1288C>T (p.Pro430Ser) http://identifiers.org/clinvar/281613 ^@ NM_004239.4(TRIP11):c.5051A>G (p.Gln1684Arg) http://identifiers.org/clinvar/281614 ^@ NM_004369.3(COL6A3):c.7173C>T (p.Tyr2391=) http://identifiers.org/clinvar/281615 ^@ NM_004369.3(COL6A3):c.2205C>T (p.Gly735=) http://identifiers.org/clinvar/281616 ^@ NM_022464.4(SIL1):c.573G>A (p.Lys191=) http://identifiers.org/clinvar/281617 ^@ NM_173660.4(DOK7):c.1445C>T (p.Ala482Val) http://identifiers.org/clinvar/281618 ^@ NM_005045.3(RELN):c.3315A>G (p.Ser1105=) http://identifiers.org/clinvar/281619 ^@ NM_020822.2(KCNT1):c.2892C>T (p.Phe964=) http://identifiers.org/clinvar/281620 ^@ NM_001318918.1(GLIS2):c.1026C>T (p.Pro342=) http://identifiers.org/clinvar/281621 ^@ NM_033056.3(PCDH15):c.4328_4329insGCCTCCGCC (p.Pro1443_Gly1444insProProPro) http://identifiers.org/clinvar/281622 ^@ NM_001277115.1(DNAH11):c.12509C>G (p.Thr4170Ser) http://identifiers.org/clinvar/281623 ^@ NM_000548.4(TSC2):c.3768G>A (p.Pro1256=) http://identifiers.org/clinvar/281624 ^@ NM_001080463.1(DYNC2H1):c.10671A>G (p.Ser3557=) http://identifiers.org/clinvar/281625 ^@ NM_173477.4(USH1G):c.1361C>G (p.Pro454Arg) http://identifiers.org/clinvar/281626 ^@ NM_176824.2(BBS7):c.712_715delAGAG (p.Arg238Glufs) http://identifiers.org/clinvar/281627 ^@ NM_001492.5(GDF1):c.780C>T (p.Gly260=) http://identifiers.org/clinvar/281628 ^@ NM_153676.3(USH1C):c.2443C>T (p.Leu815=) http://identifiers.org/clinvar/281629 ^@ NM_005006.6(NDUFS1):c.154-11_154-9delTTT http://identifiers.org/clinvar/281630 ^@ NM_001110556.1(FLNA):c.6108G>A (p.Pro2036=) http://identifiers.org/clinvar/281631 ^@ NM_000489.4(ATRX):c.1446A>G (p.Glu482=) http://identifiers.org/clinvar/281632 ^@ NM_005045.3(RELN):c.5822T>C (p.Val1941Ala) http://identifiers.org/clinvar/281633 ^@ NM_014795.3(ZEB2):c.2886+4A>C http://identifiers.org/clinvar/281634 ^@ NM_006920.4(SCN1A):c.972T>C (p.His324=) http://identifiers.org/clinvar/281635 ^@ NM_014795.3(ZEB2):c.2281A>T (p.Thr761Ser) http://identifiers.org/clinvar/281636 ^@ NM_001017420.2(ESCO2):c.91A>G (p.Asn31Asp) http://identifiers.org/clinvar/281637 ^@ NM_020436.4(SALL4):c.2036C>G (p.Thr679Ser) http://identifiers.org/clinvar/281638 ^@ NM_020436.4(SALL4):c.2483C>T (p.Thr828Met) http://identifiers.org/clinvar/281639 ^@ NM_001165927.1(MKS1):c.929-4G>A http://identifiers.org/clinvar/281640 ^@ NM_133261.2(GIPC3):c.906C>T (p.Ala302=) http://identifiers.org/clinvar/281641 ^@ NM_144672.3(OTOA):c.2334G>A (p.Lys778=) http://identifiers.org/clinvar/281642 ^@ NM_004999.3(MYO6):c.1546+6T>C http://identifiers.org/clinvar/281643 ^@ NM_032119.3(ADGRV1):c.18402G>T (p.Leu6134Phe) http://identifiers.org/clinvar/281644 ^@ NM_001039213.3(CEACAM16):c.869C>T (p.Thr290Met) http://identifiers.org/clinvar/281645 ^@ NM_001128228.2(TPRN):c.206G>A (p.Arg69Gln) http://identifiers.org/clinvar/281646 ^@ NM_004403.2(DFNA5):c.217G>A (p.Val73Met) http://identifiers.org/clinvar/281647 ^@ NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) http://identifiers.org/clinvar/281648 ^@ NM_017780.3(CHD7):c.2238+6A>G http://identifiers.org/clinvar/281650 ^@ NM_001159772.1(CANT1):c.113G>A (p.Arg38His) http://identifiers.org/clinvar/281651 ^@ NM_001014796.1(DDR2):c.437A>G (p.Asn146Ser) http://identifiers.org/clinvar/281652 ^@ NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) http://identifiers.org/clinvar/281653 ^@ NM_003482.3(KMT2D):c.14984C>G (p.Thr4995Ser) http://identifiers.org/clinvar/281654 ^@ NM_015294.4(TRIM37):c.2577-7C>G http://identifiers.org/clinvar/281655 ^@ NM_014780.4(CUL7):c.2688G>A (p.Glu896=) http://identifiers.org/clinvar/281656 ^@ NM_000163.4(GHR):c.686G>A (p.Arg229His) http://identifiers.org/clinvar/281657 ^@ NM_015074.3(KIF1B):c.430-9delT http://identifiers.org/clinvar/281658 ^@ NM_001168272.1(ITPR1):c.4362+7C>T http://identifiers.org/clinvar/281659 ^@ NM_020631.4(PLEKHG5):c.64G>A (p.Val22Met) http://identifiers.org/clinvar/281660 ^@ NM_002857.3(PEX19):c.181-5C>T http://identifiers.org/clinvar/281661 ^@ NM_000891.2(KCNJ2):c.806T>A (p.Ile269Lys) http://identifiers.org/clinvar/281662 ^@ NM_001099404.1(SCN5A):c.65C>T (p.Ala22Val) http://identifiers.org/clinvar/281663 ^@ NM_000445.4(PLEC):c.11770C>T (p.Leu3924=) http://identifiers.org/clinvar/281664 ^@ NM_033071.3(SYNE1):c.12178G>T (p.Gly4060Cys) http://identifiers.org/clinvar/281665 ^@ NM_001849.3(COL6A2):c.436C>T (p.Arg146Trp) http://identifiers.org/clinvar/281666 ^@ NM_001039523.2(CHRNA1):c.395G>T (p.Arg132Leu) http://identifiers.org/clinvar/281667 ^@ NM_001267550.2(TTN):c.57777G>A (p.Ala19259=) http://identifiers.org/clinvar/281668 ^@ NM_000445.4(PLEC):c.11692G>A (p.Gly3898Ser) http://identifiers.org/clinvar/281669 ^@ NM_017534.5(MYH2):c.4860C>G (p.Leu1620=) http://identifiers.org/clinvar/281670 ^@ NM_182914.2(SYNE2):c.19964A>T (p.Gln6655Leu) http://identifiers.org/clinvar/281671 ^@ NM_001127464.2(ZNF469):c.7183C>A (p.Pro2395Thr) http://identifiers.org/clinvar/281672 ^@ NM_022458.3(LMBR1):c.183_185delGTT (p.Leu61del) http://identifiers.org/clinvar/281673 ^@ NM_004560.3(ROR2):c.174A>G (p.Lys58=) http://identifiers.org/clinvar/281674 ^@ NM_001190839.2(MGP):c.190A>C (p.Asn64His) http://identifiers.org/clinvar/281675 ^@ NM_002968.2(SALL1):c.1025A>C (p.Asn342Thr) http://identifiers.org/clinvar/281676 ^@ NM_005908.3(MANBA):c.1430A>G (p.Tyr477Cys) http://identifiers.org/clinvar/281677 ^@ NM_003482.3(KMT2D):c.7934G>A (p.Arg2645Gln) http://identifiers.org/clinvar/281678 ^@ NM_000169.2(GLA):c.1181T>C (p.Leu394Pro) http://identifiers.org/clinvar/281679 ^@ NM_004380.2(CREBBP):c.6666_6677delTGGGGGCATGGC (p.Gly2224_Gly2227del) http://identifiers.org/clinvar/281680 ^@ NM_017875.2(SLC25A38):c.165G>A (p.Leu55=) http://identifiers.org/clinvar/281681 ^@ NM_001177317.1(SLC34A3):c.1512C>T (p.Phe504=) http://identifiers.org/clinvar/281682 ^@ NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) http://identifiers.org/clinvar/281683 ^@ NM_003494.3(DYSF):c.3057C>T (p.Pro1019=) http://identifiers.org/clinvar/281684 ^@ NM_033071.3(SYNE1):c.9510A>G (p.Gln3170=) http://identifiers.org/clinvar/281685 ^@ NM_201382.3(PLEC):c.12475C>T (p.Arg4159Cys) http://identifiers.org/clinvar/281686 ^@ NM_000070.2(CAPN3):c.2362_2363insTC (p.Arg788Ilefs) http://identifiers.org/clinvar/281687 ^@ NM_133379.4(TTN):c.5909C>A (p.Thr1970Asn) http://identifiers.org/clinvar/281688 ^@ NM_000070.2(CAPN3):c.2363G>T (p.Arg788Met) http://identifiers.org/clinvar/281689 ^@ NM_000070.2(CAPN3):c.2361_2362insTC (p.Arg788Serfs) http://identifiers.org/clinvar/281690 ^@ NM_001267550.2(TTN):c.14426G>A (p.Gly4809Asp) http://identifiers.org/clinvar/281691 ^@ NM_033071.3(SYNE1):c.4052G>A (p.Arg1351Gln) http://identifiers.org/clinvar/281692 ^@ NM_033071.3(SYNE1):c.7177A>G (p.Ile2393Val) http://identifiers.org/clinvar/281693 ^@ NM_000445.4(PLEC):c.853C>T (p.Leu285=) http://identifiers.org/clinvar/281694 ^@ NM_201382.3(PLEC):c.10716C>T (p.Ile3572=) http://identifiers.org/clinvar/281695 ^@ NM_201381.2(PLEC):c.6182C>T (p.Ala2061Val) http://identifiers.org/clinvar/281696 ^@ NM_000231.2(SGCG):c.517G>A (p.Ala173Thr) http://identifiers.org/clinvar/281697 ^@ NM_213599.2(ANO5):c.1333-10A>C http://identifiers.org/clinvar/281698 ^@ NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu) http://identifiers.org/clinvar/281699 ^@ NM_001267550.2(TTN):c.78589C>A (p.Pro26197Thr) http://identifiers.org/clinvar/281700 ^@ NM_001848.2(COL6A1):c.2050G>T (p.Val684Leu) http://identifiers.org/clinvar/281701 ^@ NM_201381.2(PLEC):c.5131G>A (p.Ala1711Thr) http://identifiers.org/clinvar/281702 ^@ NM_147127.4(EVC2):c.2601C>T (p.Ala867=) http://identifiers.org/clinvar/281703 ^@ NM_147127.4(EVC2):c.2047-9A>T http://identifiers.org/clinvar/281704 ^@ NM_147127.4(EVC2):c.1462G>A (p.Gly488Ser) http://identifiers.org/clinvar/281705 ^@ NM_000543.4(SMPD1):c.340G>A (p.Val114Met) http://identifiers.org/clinvar/281706 ^@ NM_080605.3(B3GALT6):c.587G>T (p.Gly196Val) http://identifiers.org/clinvar/281707 ^@ NM_153819.1(RASGRP2):c.371+7G>C http://identifiers.org/clinvar/281708 ^@ NM_007255.2(B4GALT7):c.328G>A (p.Val110Ile) http://identifiers.org/clinvar/281710 ^@ NM_001142800.1(EYS):c.8789A>G (p.Asp2930Gly) http://identifiers.org/clinvar/281711 ^@ NM_015384.4(NIPBL):c.3938C>A (p.Thr1313Lys) http://identifiers.org/clinvar/281712 ^@ NM_014244.4(ADAMTS2):c.1629+9G>A http://identifiers.org/clinvar/281713 ^@ NM_000138.4(FBN1):c.75G>A (p.Ala25=) http://identifiers.org/clinvar/281714 ^@ NM_000090.3(COL3A1):c.2553+9C>T http://identifiers.org/clinvar/281715 ^@ NM_000329.2(RPE65):c.331C>T (p.Pro111Ser) http://identifiers.org/clinvar/281716 ^@ NM_198270.3(NHS):c.3828C>T (p.Asp1276=) http://identifiers.org/clinvar/281718 ^@ NM_000784.3(CYP27A1):c.919G>T (p.Val307Leu) http://identifiers.org/clinvar/281719 ^@ NM_019066.4(MAGEL2):c.1470G>A (p.Pro490=) http://identifiers.org/clinvar/281720 ^@ NM_004006.2(DMD):c.3959C>G (p.Pro1320Arg) http://identifiers.org/clinvar/281721 ^@ NM_003688.3(CASK):c.1390A>G (p.Thr464Ala) http://identifiers.org/clinvar/281722 ^@ NM_012254.2(SLC27A5):c.899-6C>T http://identifiers.org/clinvar/281723 ^@ NM_138694.3(PKHD1):c.3729G>A (p.Thr1243=) http://identifiers.org/clinvar/281724 ^@ NM_000492.3(CFTR):c.948T>G (p.Phe316Leu) http://identifiers.org/clinvar/281725 ^@ NM_018006.4(TRMU):c.82+3G>A http://identifiers.org/clinvar/281726 ^@ NM_020631.4(PLEKHG5):c.1254C>G (p.Pro418=) http://identifiers.org/clinvar/281727 ^@ NM_017950.3(CCDC40):c.855+4A>G http://identifiers.org/clinvar/281728 ^@ NM_206933.2(USH2A):c.11467G>A (p.Val3823Ile) http://identifiers.org/clinvar/281729 ^@ NM_001006657.1(WDR35):c.450G>C (p.Trp150Cys) http://identifiers.org/clinvar/281730 ^@ NM_000260.3(MYO7A):c.3927G>T (p.Val1309=) http://identifiers.org/clinvar/281731 ^@ NM_144612.6(LOXHD1):c.6330C>T (p.Ala2110=) http://identifiers.org/clinvar/281732 ^@ NM_004817.3(TJP2):c.3068C>T (p.Ala1023Val) http://identifiers.org/clinvar/281733 ^@ NM_001129837.1(CACNA1C):c.4745C>T (p.Pro1582Leu) http://identifiers.org/clinvar/281734 ^@ NM_007254.3(PNKP):c.920_922delCCT (p.Ser307del) http://identifiers.org/clinvar/281735 ^@ NM_014425.4(INVS):c.2822A>G (p.His941Arg) http://identifiers.org/clinvar/281736 ^@ NM_000392.4(ABCC2):c.1183G>A (p.Ala395Thr) http://identifiers.org/clinvar/281737 ^@ NM_004817.3(TJP2):c.395C>G (p.Pro132Arg) http://identifiers.org/clinvar/281738 ^@ NM_000319.4(PEX5):c.1154G>A (p.Arg385Gln) http://identifiers.org/clinvar/281739 ^@ NM_000326.4(RLBP1):c.545T>G (p.Phe182Cys) http://identifiers.org/clinvar/281740 ^@ NM_003282.3(TNNI2):c.333A>G (p.Pro111=) http://identifiers.org/clinvar/281741 ^@ NM_001848.2(COL6A1):c.1399-3C>T http://identifiers.org/clinvar/281742 ^@ NM_005609.3(PYGM):c.1160G>A (p.Arg387His) http://identifiers.org/clinvar/281743 ^@ NM_001271208.1(NEB):c.10341G>A (p.Met3447Ile) http://identifiers.org/clinvar/281744 ^@ NM_014270.4(SLC7A9):c.1431_1432insAATG (p.Glu478Asnfs) http://identifiers.org/clinvar/281745 ^@ NM_005859.4(PURA):c.367C>T (p.Gln123Ter) http://identifiers.org/clinvar/281746 ^@ NM_001008215.2(COA5):c.*3C>G http://identifiers.org/clinvar/281747 ^@ NM_001127221.1(CACNA1A):c.592C>G (p.Arg198Gly) http://identifiers.org/clinvar/281748 ^@ NM_015384.4(NIPBL):c.7175G>A (p.Cys2392Tyr) http://identifiers.org/clinvar/281749 ^@ NM_000969.3(RPL5):c.3+3G>C http://identifiers.org/clinvar/281750 ^@ NM_000152.4(GAA):c.546+18G>A http://identifiers.org/clinvar/281751 ^@ NM_000152.4(GAA):c.2580C>T (p.Asp860=) http://identifiers.org/clinvar/281752 ^@ NM_015384.4(NIPBL):c.1221A>G (p.Pro407=) http://identifiers.org/clinvar/281753 ^@ NM_152564.4(VPS13B):c.7647C>T (p.Phe2549=) http://identifiers.org/clinvar/281754 ^@ NM_001195263.1(PDZD7):c.1079G>A (p.Gly360Asp) http://identifiers.org/clinvar/281755 ^@ NM_005219.4(DIAPH1):c.1708A>G (p.Ile570Val) http://identifiers.org/clinvar/281756 ^@ NM_000026.3(ADSL):c.16G>C (p.Asp6His) http://identifiers.org/clinvar/281757 ^@ NM_000193.3(SHH):c.1181G>A (p.Arg394His) http://identifiers.org/clinvar/281758 ^@ NM_001110556.1(FLNA):c.5448G>A (p.Ala1816=) http://identifiers.org/clinvar/281759 ^@ NM_005957.4(MTHFR):c.348C>T (p.Ala116=) http://identifiers.org/clinvar/281760 ^@ NM_024296.4(CCDC28B):c.463G>A (p.Gly155Arg) http://identifiers.org/clinvar/281762 ^@ NM_014319.4(LEMD3):c.862C>G (p.Arg288Gly) http://identifiers.org/clinvar/281763 ^@ NM_001080463.1(DYNC2H1):c.3744+9C>T http://identifiers.org/clinvar/281764 ^@ NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln) http://identifiers.org/clinvar/281765 ^@ NM_001457.3(FLNB):c.6047G>A (p.Arg2016Gln) http://identifiers.org/clinvar/281766 ^@ NM_001080463.1(DYNC2H1):c.8960A>C (p.Glu2987Ala) http://identifiers.org/clinvar/281767 ^@ NM_001127897.3(RPGRIP1L):c.2673G>A (p.Arg891=) http://identifiers.org/clinvar/281768 ^@ NM_022039.3(FBXW4):c.945T>C (p.Tyr315=) http://identifiers.org/clinvar/281769 ^@ NM_001080463.1(DYNC2H1):c.6551A>T (p.Asp2184Val) http://identifiers.org/clinvar/281770 ^@ NM_004625.3(WNT7A):c.75C>T (p.Gly25=) http://identifiers.org/clinvar/281771 ^@ NM_001080463.1(DYNC2H1):c.1935A>T (p.Ala645=) http://identifiers.org/clinvar/281772 ^@ NM_001080463.1(DYNC2H1):c.7128A>G (p.Ala2376=) http://identifiers.org/clinvar/281773 ^@ NM_000444.5(PHEX):c.1586+3_1586+6delGAGT http://identifiers.org/clinvar/281774 ^@ NM_001080463.1(DYNC2H1):c.6918A>G (p.Ser2306=) http://identifiers.org/clinvar/281775 ^@ NM_014714.3(IFT140):c.3830G>A (p.Arg1277Gln) http://identifiers.org/clinvar/281776 ^@ NM_002334.3(LRP4):c.639C>T (p.Asp213=) http://identifiers.org/clinvar/281777 ^@ NM_001080463.1(DYNC2H1):c.6093T>G (p.Asp2031Glu) http://identifiers.org/clinvar/281778 ^@ NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) http://identifiers.org/clinvar/281779 ^@ NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln) http://identifiers.org/clinvar/281780 ^@ NM_001369.2(DNAH5):c.7888-6dupT http://identifiers.org/clinvar/281781 ^@ NM_003573.2(LTBP4):c.4388A>T (p.Tyr1463Phe) http://identifiers.org/clinvar/281782 ^@ NM_000540.2(RYR1):c.9354G>A (p.Ala3118=) http://identifiers.org/clinvar/281783 ^@ NM_033071.3(SYNE1):c.7097C>A (p.Thr2366Asn) http://identifiers.org/clinvar/281784 ^@ NM_001271208.1(NEB):c.20467-5_20467-4insA http://identifiers.org/clinvar/281785 ^@ NM_001848.2(COL6A1):c.1525-9C>T http://identifiers.org/clinvar/281786 ^@ NM_000445.4(PLEC):c.13428G>A (p.Ala4476=) http://identifiers.org/clinvar/281787 ^@ NM_133378.4(TTN):c.91039A>G (p.Ser30347Gly) http://identifiers.org/clinvar/281788 ^@ NM_001267550.2(TTN):c.1699G>T (p.Val567Leu) http://identifiers.org/clinvar/281789 ^@ NM_004369.3(COL6A3):c.3141G>C (p.Leu1047Phe) http://identifiers.org/clinvar/281790 ^@ NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) http://identifiers.org/clinvar/281791 ^@ NM_000466.2(PEX1):c.2839C>T (p.Pro947Ser) http://identifiers.org/clinvar/281792 ^@ NM_000492.3(CFTR):c.4322T>C (p.Ile1441Thr) http://identifiers.org/clinvar/281793 ^@ NM_024408.3(NOTCH2):c.5153G>A (p.Arg1718His) http://identifiers.org/clinvar/281794 ^@ NM_138694.3(PKHD1):c.129T>C (p.Asp43=) http://identifiers.org/clinvar/281795 ^@ NM_001360.2(DHCR7):c.778C>G (p.Arg260Gly) http://identifiers.org/clinvar/281796 ^@ NM_000319.4(PEX5):c.973C>T (p.Arg325Cys) http://identifiers.org/clinvar/281797 ^@ NM_005603.4(ATP8B1):c.297A>T (p.Thr99=) http://identifiers.org/clinvar/281798 ^@ NM_020686.5(ABAT):c.30G>A (p.Leu10=) http://identifiers.org/clinvar/281799 ^@ NM_198859.3(PRICKLE2):c.2103G>T (p.Leu701=) http://identifiers.org/clinvar/281800 ^@ NM_033056.3(PCDH15):c.1205G>C (p.Gly402Ala) http://identifiers.org/clinvar/281801 ^@ NM_022124.5(CDH23):c.5788G>T (p.Asp1930Tyr) http://identifiers.org/clinvar/281802 ^@ NM_022124.5(CDH23):c.5971G>C (p.Asp1991His) http://identifiers.org/clinvar/281803 ^@ NM_172364.4(CACNA2D4):c.1807-4delG http://identifiers.org/clinvar/281804 ^@ NM_019098.4(CNGB3):c.2007A>G (p.Lys669=) http://identifiers.org/clinvar/281805 ^@ NM_002420.5(TRPM1):c.4615C>T (p.Pro1539Ser) http://identifiers.org/clinvar/281806 ^@ NM_006445.3(PRPF8):c.1666C>T (p.Leu556=) http://identifiers.org/clinvar/281807 ^@ NM_012469.3(PRPF6):c.1797G>A (p.Arg599=) http://identifiers.org/clinvar/281808 ^@ NM_080629.2(COL11A1):c.652-11_652-10insGTT http://identifiers.org/clinvar/281809 ^@ NM_001142800.1(EYS):c.9345_9347delTGT (p.Val3116del) http://identifiers.org/clinvar/281810 ^@ NM_000283.3(PDE6B):c.384C>T (p.Ser128=) http://identifiers.org/clinvar/281811 ^@ NM_006445.3(PRPF8):c.1929C>T (p.Gly643=) http://identifiers.org/clinvar/281812 ^@ NM_000283.3(PDE6B):c.373C>G (p.Pro125Ala) http://identifiers.org/clinvar/281813 ^@ NM_001142800.1(EYS):c.5335G>A (p.Gly1779Ser) http://identifiers.org/clinvar/281814 ^@ NM_004727.2(SLC24A1):c.1131C>T (p.Thr377=) http://identifiers.org/clinvar/281815 ^@ NM_006359.2(SLC9A6):c.1991C>T (p.Thr664Met) http://identifiers.org/clinvar/281816 ^@ NM_014211.2(GABRP):c.607delG (p.Glu203Asnfs) http://identifiers.org/clinvar/281817 ^@ NM_006517.4(SLC16A2):c.576-1G>A http://identifiers.org/clinvar/281818 ^@ NM_206933.2(USH2A):c.12574C>T (p.Arg4192Cys) http://identifiers.org/clinvar/281819 ^@ NM_001042351.2(G6PD):c.337G>A (p.Asp113Asn) http://identifiers.org/clinvar/281820 ^@ NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) http://identifiers.org/clinvar/281821 ^@ NM_005572.3(LMNA):c.1124C>A (p.Ala375Asp) http://identifiers.org/clinvar/281822 ^@ NM_033337.2(CAV3):c.399C>T (p.Phe133=) http://identifiers.org/clinvar/281823 ^@ NM_001267550.2(TTN):c.22339C>T (p.Pro7447Ser) http://identifiers.org/clinvar/281824 ^@ NM_182914.2(SYNE2):c.16095-10G>A http://identifiers.org/clinvar/281825 ^@ NM_001165928.3(DAG1):c.278T>C (p.Ile93Thr) http://identifiers.org/clinvar/281826 ^@ NM_004006.2(DMD):c.7578G>A (p.Gln2526=) http://identifiers.org/clinvar/281827 ^@ NM_001267550.2(TTN):c.68321C>T (p.Pro22774Leu) http://identifiers.org/clinvar/281828 ^@ NM_001256850.1(TTN):c.27369C>T (p.Gly9123=) http://identifiers.org/clinvar/281829 ^@ NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) http://identifiers.org/clinvar/281830 ^@ NM_001848.2(COL6A1):c.548G>A (p.Gly183Asp) http://identifiers.org/clinvar/281831 ^@ NM_001079802.1(FKTN):c.706A>G (p.Met236Val) http://identifiers.org/clinvar/281832 ^@ NM_001267550.2(TTN):c.96447G>A (p.Met32149Ile) http://identifiers.org/clinvar/281833 ^@ NM_000445.4(PLEC):c.11925G>A (p.Ser3975=) http://identifiers.org/clinvar/281834 ^@ NM_001267550.2(TTN):c.51437A>G (p.Gln17146Arg) http://identifiers.org/clinvar/281836 ^@ NM_201379.2(PLEC):c.8750G>A (p.Arg2917Gln) http://identifiers.org/clinvar/281837 ^@ NM_017739.3(POMGNT1):c.1077T>C (p.Thr359=) http://identifiers.org/clinvar/281838 ^@ NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser) http://identifiers.org/clinvar/281839 ^@ NM_001079802.1(FKTN):c.330dupT (p.Thr111Tyrfs) http://identifiers.org/clinvar/281840 ^@ NM_033071.3(SYNE1):c.20310T>C (p.Ala6770=) http://identifiers.org/clinvar/281841 ^@ NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser) http://identifiers.org/clinvar/281842 ^@ NM_001848.2(COL6A1):c.2637C>T (p.Ser879=) http://identifiers.org/clinvar/281843 ^@ NM_001267550.2(TTN):c.100766-11_100766-10delTT http://identifiers.org/clinvar/281844 ^@ NM_182914.2(SYNE2):c.12302G>A (p.Arg4101Gln) http://identifiers.org/clinvar/281845 ^@ NM_001267550.2(TTN):c.66160+2T>C http://identifiers.org/clinvar/281846 ^@ NM_001267550.2(TTN):c.107463_107464insAGTC (p.Gln35822Serfs) http://identifiers.org/clinvar/281847 ^@ NM_001267550.2(TTN):c.12387G>A (p.Arg4129=) http://identifiers.org/clinvar/281848 ^@ NM_004369.3(COL6A3):c.1120G>A (p.Val374Met) http://identifiers.org/clinvar/281849 ^@ NM_201382.3(PLEC):c.2477A>G (p.Asp826Gly) http://identifiers.org/clinvar/281850 ^@ NM_004369.3(COL6A3):c.290G>A (p.Arg97His) http://identifiers.org/clinvar/281851 ^@ NM_182914.2(SYNE2):c.204G>A (p.Leu68=) http://identifiers.org/clinvar/281852 ^@ NM_004006.2(DMD):c.8829G>A (p.Thr2943=) http://identifiers.org/clinvar/281853 ^@ NM_033071.3(SYNE1):c.25480C>T (p.Arg8494Trp) http://identifiers.org/clinvar/281854 ^@ NM_001267550.2(TTN):c.99275A>G (p.Lys33092Arg) http://identifiers.org/clinvar/281855 ^@ NM_201380.3(PLEC):c.9210C>T (p.Phe3070=) http://identifiers.org/clinvar/281856 ^@ NM_182961.3(SYNE1):c.22767T>A (p.Gly7589=) http://identifiers.org/clinvar/281857 ^@ NM_182914.2(SYNE2):c.18541-7G>A http://identifiers.org/clinvar/281858 ^@ NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) http://identifiers.org/clinvar/281859 ^@ NM_000023.3(SGCA):c.157G>A (p.Ala53Thr) http://identifiers.org/clinvar/281860 ^@ NM_001267550.2(TTN):c.75744C>G (p.Ser25248Arg) http://identifiers.org/clinvar/281861 ^@ NM_004006.2(DMD):c.711A>G (p.Gln237=) http://identifiers.org/clinvar/281862 ^@ NM_001848.2(COL6A1):c.957+7G>A http://identifiers.org/clinvar/281863 ^@ NM_000321.2(RB1):c.2325+5G>A http://identifiers.org/clinvar/281865 ^@ NM_000169.2(GLA):c.806T>A (p.Val269Glu) http://identifiers.org/clinvar/281866 ^@ NM_001429.3(EP300):c.739A>G (p.Met247Val) http://identifiers.org/clinvar/281867 ^@ NM_000163.4(GHR):c.401G>A (p.Gly134Asp) http://identifiers.org/clinvar/281868 ^@ NM_000163.4(GHR):c.585A>G (p.Gln195=) http://identifiers.org/clinvar/281869 ^@ NM_000163.4(GHR):c.1088A>G (p.Asp363Gly) http://identifiers.org/clinvar/281870 ^@ NM_005634.2(SOX3):c.726_731delGGCCGC (p.Ala247_Ala248del) http://identifiers.org/clinvar/281871 ^@ NM_001111125.2(IQSEC2):c.1695C>T (p.Asp565=) http://identifiers.org/clinvar/281872 ^@ NM_001031847.2(CPT1A):c.548_549delTG (p.Val183Glufs) http://identifiers.org/clinvar/281873 ^@ NM_000208.3(INSR):c.2970G>A (p.Pro990=) http://identifiers.org/clinvar/281874 ^@ NM_000208.3(INSR):c.3158G>A (p.Arg1053His) http://identifiers.org/clinvar/281875 ^@ NM_004380.2(CREBBP):c.4421G>A (p.Cys1474Tyr) http://identifiers.org/clinvar/281876 ^@ NM_003482.3(KMT2D):c.12039A>G (p.Gly4013=) http://identifiers.org/clinvar/281877 ^@ NM_017780.3(CHD7):c.5105G>A (p.Ser1702Asn) http://identifiers.org/clinvar/281878 ^@ NM_005045.3(RELN):c.1588G>A (p.Glu530Lys) http://identifiers.org/clinvar/281879 ^@ NM_015384.4(NIPBL):c.5511A>G (p.Arg1837=) http://identifiers.org/clinvar/281880 ^@ NM_003742.2(ABCB11):c.2101T>C (p.Ser701Pro) http://identifiers.org/clinvar/281881 ^@ NM_002420.5(TRPM1):c.2109G>A (p.Leu703=) http://identifiers.org/clinvar/281883 ^@ NM_000492.3(CFTR):c.1227T>C (p.Phe409=) http://identifiers.org/clinvar/281884 ^@ NM_003482.3(KMT2D):c.11713C>T (p.Gln3905Ter) http://identifiers.org/clinvar/281885 ^@ NM_198428.2(BBS9):c.801_803delCTT (p.Phe269del) http://identifiers.org/clinvar/281886 ^@ NM_000543.4(SMPD1):c.8G>A (p.Arg3His) http://identifiers.org/clinvar/281887 ^@ NM_012254.2(SLC27A5):c.1160G>A (p.Arg387Gln) http://identifiers.org/clinvar/281888 ^@ NM_018849.2(ABCB4):c.3507+10dupA http://identifiers.org/clinvar/281889 ^@ NM_023110.2(FGFR1):c.463T>C (p.Trp155Arg) http://identifiers.org/clinvar/281890 ^@ NM_000321.2(RB1):c.1422-8delT http://identifiers.org/clinvar/281891 ^@ NM_005957.4(MTHFR):c.1958C>T (p.Thr653Met) http://identifiers.org/clinvar/281892 ^@ NM_018136.4(ASPM):c.2205G>A (p.Glu735=) http://identifiers.org/clinvar/281893 ^@ NM_014191.3(SCN8A):c.929-4C>G http://identifiers.org/clinvar/281894 ^@ NM_000784.3(CYP27A1):c.649A>C (p.Ile217Leu) http://identifiers.org/clinvar/281895 ^@ NM_014141.5(CNTNAP2):c.2227T>C (p.Cys743Arg) http://identifiers.org/clinvar/281896 ^@ NM_178837.4(DNAAF3):c.1392C>T (p.Asp464=) http://identifiers.org/clinvar/281897 ^@ NM_198525.2(KIF7):c.2930G>A (p.Arg977Gln) http://identifiers.org/clinvar/281898 ^@ NM_198428.2(BBS9):c.1167delG (p.Ile391Serfs) http://identifiers.org/clinvar/281899 ^@ NM_138694.3(PKHD1):c.764A>G (p.Tyr255Cys) http://identifiers.org/clinvar/281900 ^@ NM_001127464.2(ZNF469):c.4388C>T (p.Thr1463Met) http://identifiers.org/clinvar/281901 ^@ NM_000088.3(COL1A1):c.2434G>A (p.Gly812Ser) http://identifiers.org/clinvar/281902 ^@ NM_000089.3(COL1A2):c.594+5A>T http://identifiers.org/clinvar/281903 ^@ NM_001177317.1(SLC34A3):c.709G>A (p.Asp237Asn) http://identifiers.org/clinvar/281904 ^@ NM_054027.4(ANKH):c.27C>T (p.His9=) http://identifiers.org/clinvar/281905 ^@ NM_020754.3(ARHGAP31):c.349-7T>G http://identifiers.org/clinvar/281906 ^@ NM_006037.3(HDAC4):c.1938C>T (p.Pro646=) http://identifiers.org/clinvar/281907 ^@ NM_001135659.2(NRXN1):c.2618-8T>C http://identifiers.org/clinvar/281908 ^@ NM_024757.4(EHMT1):c.3569G>A (p.Arg1190Gln) http://identifiers.org/clinvar/281909 ^@ NM_017775.3(TTC19):c.-73G>A http://identifiers.org/clinvar/281910 ^@ NM_001127500.2(MET):c.3667T>G (p.Leu1223Val) http://identifiers.org/clinvar/281911 ^@ NM_000193.3(SHH):c.330C>T (p.Ala110=) http://identifiers.org/clinvar/281912 ^@ NM_014780.4(CUL7):c.3695G>A (p.Arg1232Gln) http://identifiers.org/clinvar/281913 ^@ NM_004380.2(CREBBP):c.5934C>T (p.Asn1978=) http://identifiers.org/clinvar/281914 ^@ NM_001077482.2(NR1I3):c.258C>G (p.Ala86=) http://identifiers.org/clinvar/281915 ^@ NM_003073.4(SMARCB1):c.1131T>C (p.Arg377=) http://identifiers.org/clinvar/281916 ^@ NM_022455.4(NSD1):c.1236+9C>A http://identifiers.org/clinvar/281917 ^@ NM_001256182.1(ANKRD11):c.1133A>G (p.Asn378Ser) http://identifiers.org/clinvar/281918 ^@ NM_004525.2(LRP2):c.1639A>G (p.Asn547Asp) http://identifiers.org/clinvar/281919 ^@ NM_004525.2(LRP2):c.10703C>T (p.Pro3568Leu) http://identifiers.org/clinvar/281920 ^@ NM_001184880.1(PCDH19):c.2372G>A (p.Arg791Gln) http://identifiers.org/clinvar/281921 ^@ NM_005135.2(SLC12A6):c.860G>A (p.Arg287His) http://identifiers.org/clinvar/281922 ^@ NM_001008216.1(GALE):c.796-1G>T http://identifiers.org/clinvar/281923 ^@ NM_033100.3(CDHR1):c.2470C>T (p.Gln824Ter) http://identifiers.org/clinvar/281924 ^@ NM_020247.4(COQ8A):c.638_645delGGCTGGCC (p.Arg213Glnfs) http://identifiers.org/clinvar/281926 ^@ NM_000552.4(VWF):c.4926T>C (p.Ile1642=) http://identifiers.org/clinvar/281927 ^@ NM_000552.4(VWF):c.4927G>A (p.Gly1643Ser) http://identifiers.org/clinvar/281928 ^@ NM_000552.4(VWF):c.4944T>C (p.Pro1648=) http://identifiers.org/clinvar/281929 ^@ NM_000552.4(VWF):c.5049A>C (p.Ala1683=) http://identifiers.org/clinvar/281930 ^@ NM_020223.3(FAM20C):c.885A>G (p.Thr295=) http://identifiers.org/clinvar/281931 ^@ NM_004239.4(TRIP11):c.5574+19C>A http://identifiers.org/clinvar/281932 ^@ NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) http://identifiers.org/clinvar/281933 ^@ NM_000252.2(MTM1):c.1297G>A (p.Asp433Asn) http://identifiers.org/clinvar/281934 ^@ NM_001848.2(COL6A1):c.1015T>C (p.Tyr339His) http://identifiers.org/clinvar/281935 ^@ NM_004369.3(COL6A3):c.4786G>T (p.Val1596Leu) http://identifiers.org/clinvar/281936 ^@ NM_005677.3(COLQ):c.23C>G (p.Thr8Ser) http://identifiers.org/clinvar/281937 ^@ NM_020745.3(AARS2):c.2165G>A (p.Arg722Gln) http://identifiers.org/clinvar/281938 ^@ NM_020745.3(AARS2):c.1519G>C (p.Val507Leu) http://identifiers.org/clinvar/281939 ^@ NM_000271.4(NPC1):c.3246-2A>G http://identifiers.org/clinvar/281940 ^@ NM_000059.3(BRCA2):c.7020A>G (p.Glu2340=) http://identifiers.org/clinvar/281941 ^@ NM_000271.4(NPC1):c.1920delG (p.His641Thrfs) http://identifiers.org/clinvar/281942 ^@ NM_201381.2(PLEC):c.6217_6218delGCinsAT (p.Ala2073Met) http://identifiers.org/clinvar/281943 ^@ NM_001244008.1(KIF1A):c.4069C>T (p.Arg1357Trp) http://identifiers.org/clinvar/281944 ^@ NM_032551.4(KISS1R):c.890G>T (p.Arg297Leu) http://identifiers.org/clinvar/281945 ^@ NM_000271.4(NPC1):c.1947+5G>C http://identifiers.org/clinvar/281946 ^@ NM_001849.3(COL6A2):c.2960C>T (p.Thr987Met) http://identifiers.org/clinvar/281947 ^@ NM_058246.3(DNAJB6):c.961T>C (p.Ser321Pro) http://identifiers.org/clinvar/281948 ^@ NM_201380.3(PLEC):c.3763G>A (p.Val1255Met) http://identifiers.org/clinvar/281949 ^@ NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) http://identifiers.org/clinvar/281950 ^@ NM_182914.2(SYNE2):c.12738C>T (p.Ala4246=) http://identifiers.org/clinvar/281951 ^@ NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) http://identifiers.org/clinvar/281952 ^@ NM_000070.2(CAPN3):c.1325G>A (p.Cys442Tyr) http://identifiers.org/clinvar/281953 ^@ NM_033071.3(SYNE1):c.5091C>G (p.Val1697=) http://identifiers.org/clinvar/281954 ^@ NM_001130987.1(DYSF):c.1276+5G>C http://identifiers.org/clinvar/281955 ^@ NM_182914.2(SYNE2):c.5960+6G>A http://identifiers.org/clinvar/281956 ^@ NM_000117.2(EMD):c.449+10G>C http://identifiers.org/clinvar/281957 ^@ NM_001101426.3(ISPD):c.999T>C (p.Asp333=) http://identifiers.org/clinvar/281958 ^@ NM_201382.3(PLEC):c.6520G>A (p.Ala2174Thr) http://identifiers.org/clinvar/281959 ^@ NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) http://identifiers.org/clinvar/281960 ^@ NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile) http://identifiers.org/clinvar/281961 ^@ NM_004006.2(DMD):c.7310-7A>G http://identifiers.org/clinvar/281962 ^@ NM_182961.3(SYNE1):c.16543G>A (p.Ala5515Thr) http://identifiers.org/clinvar/281963 ^@ NM_001130987.1(DYSF):c.2153G>A (p.Cys718Tyr) http://identifiers.org/clinvar/281964 ^@ NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn) http://identifiers.org/clinvar/281965 ^@ NM_182914.2(SYNE2):c.9652G>T (p.Glu3218Ter) http://identifiers.org/clinvar/281966 ^@ NM_004006.2(DMD):c.2293-3C>T http://identifiers.org/clinvar/281967 ^@ NM_000445.4(PLEC):c.5024C>T (p.Ala1675Val) http://identifiers.org/clinvar/281968 ^@ NM_001267550.2(TTN):c.30683-5_30683-3delTTT http://identifiers.org/clinvar/281969 ^@ NM_182914.2(SYNE2):c.1129-7_1129-4delTTTT http://identifiers.org/clinvar/281970 ^@ NM_000489.4(ATRX):c.831C>T (p.Val277=) http://identifiers.org/clinvar/281971 ^@ NM_004006.2(DMD):c.3162+4A>G http://identifiers.org/clinvar/281972 ^@ NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) http://identifiers.org/clinvar/281973 ^@ NM_004415.3(DSP):c.8255G>A (p.Arg2752Gln) http://identifiers.org/clinvar/281974 ^@ NM_001267550.2(TTN):c.11312-8C>A http://identifiers.org/clinvar/281975 ^@ NM_153240.4(NPHP3):c.3221G>A (p.Arg1074His) http://identifiers.org/clinvar/281976 ^@ NM_015102.4(NPHP4):c.1867A>G (p.Thr623Ala) http://identifiers.org/clinvar/281977 ^@ NM_000287.3(PEX6):c.685A>G (p.Arg229Gly) http://identifiers.org/clinvar/281978 ^@ NM_000287.3(PEX6):c.1171G>A (p.Glu391Lys) http://identifiers.org/clinvar/281979 ^@ NM_001128228.2(TPRN):c.655C>A (p.Arg219Ser) http://identifiers.org/clinvar/281980 ^@ NM_001195263.1(PDZD7):c.2250G>T (p.Trp750Cys) http://identifiers.org/clinvar/281981 ^@ NM_004086.2(COCH):c.629+5C>T http://identifiers.org/clinvar/281982 ^@ NM_001267550.2(TTN):c.53822A>T (p.Asn17941Ile) http://identifiers.org/clinvar/281983 ^@ NM_004369.3(COL6A3):c.6533C>G (p.Pro2178Arg) http://identifiers.org/clinvar/281984 ^@ NM_001267550.2(TTN):c.64324G>A (p.Ala21442Thr) http://identifiers.org/clinvar/281985 ^@ NM_001267550.2(TTN):c.2649C>T (p.Phe883=) http://identifiers.org/clinvar/281986 ^@ NM_007078.2(LDB3):c.1120G>A (p.Ala374Thr) http://identifiers.org/clinvar/281987 ^@ NM_013382.5(POMT2):c.1920C>T (p.Gly640=) http://identifiers.org/clinvar/281988 ^@ NM_003482.3(KMT2D):c.7829T>C (p.Leu2610Pro) http://identifiers.org/clinvar/281989 ^@ NM_001845.5(COL4A1):c.807+3C>T http://identifiers.org/clinvar/281990 ^@ NM_001558.3(IL10RA):c.21G>C (p.Val7=) http://identifiers.org/clinvar/281991 ^@ NM_201382.3(PLEC):c.5331G>C (p.Glu1777Asp) http://identifiers.org/clinvar/281992 ^@ NM_000445.4(PLEC):c.4642G>A (p.Val1548Met) http://identifiers.org/clinvar/281993 ^@ NM_001256850.1(TTN):c.30924A>C (p.Thr10308=) http://identifiers.org/clinvar/281994 ^@ NM_000152.4(GAA):c.1425G>A (p.Pro475=) http://identifiers.org/clinvar/281995 ^@ NM_001267550.2(TTN):c.49127G>A (p.Arg16376His) http://identifiers.org/clinvar/281996 ^@ NM_000417.2(IL2RA):c.457G>A (p.Val153Ile) http://identifiers.org/clinvar/281997 ^@ NM_000101.3(CYBA):c.139G>A (p.Val47Met) http://identifiers.org/clinvar/281998 ^@ NM_000719.6(CACNA1C):c.363C>T (p.Val121=) http://identifiers.org/clinvar/281999 ^@ NM_000719.6(CACNA1C):c.5140G>A (p.Gly1714Ser) http://identifiers.org/clinvar/282000 ^@ NM_000417.2(IL2RA):c.711A>G (p.Thr237=) http://identifiers.org/clinvar/282001 ^@ NM_006726.4(LRBA):c.3568A>G (p.Met1190Val) http://identifiers.org/clinvar/282002 ^@ NM_000243.2(MEFV):c.744T>C (p.Ser248=) http://identifiers.org/clinvar/282003 ^@ NM_000550.2(TYRP1):c.415G>A (p.Glu139Lys) http://identifiers.org/clinvar/282004 ^@ NM_001256850.1(TTN):c.67800C>G (p.Val22600=) http://identifiers.org/clinvar/282005 ^@ NM_015295.2(SMCHD1):c.3634-1G>C http://identifiers.org/clinvar/282006 ^@ NM_213599.2(ANO5):c.648+5G>C http://identifiers.org/clinvar/282007 ^@ NM_001267550.2(TTN):c.18777C>A (p.Thr6259=) http://identifiers.org/clinvar/282008 ^@ NM_001267550.2(TTN):c.75746G>A (p.Arg25249His) http://identifiers.org/clinvar/282009 ^@ NM_001267550.2(TTN):c.76475A>C (p.His25492Pro) http://identifiers.org/clinvar/282010 ^@ NM_182914.2(SYNE2):c.6714+3G>A http://identifiers.org/clinvar/282011 ^@ NM_000445.4(PLEC):c.9639A>G (p.Thr3213=) http://identifiers.org/clinvar/282012 ^@ NM_001267550.2(TTN):c.21417T>C (p.Phe7139=) http://identifiers.org/clinvar/282013 ^@ NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) http://identifiers.org/clinvar/282014 ^@ NM_003482.3(KMT2D):c.1966delC (p.Leu656Cysfs) http://identifiers.org/clinvar/282015 ^@ NM_024408.3(NOTCH2):c.4938A>G (p.Ala1646=) http://identifiers.org/clinvar/282016 ^@ NM_000088.3(COL1A1):c.3567delT (p.Gly1190Valfs) http://identifiers.org/clinvar/282017 ^@ NM_001083962.1(TCF4):c.790-9T>C http://identifiers.org/clinvar/282018 ^@ NM_000168.5(GLI3):c.1671C>T (p.Tyr557=) http://identifiers.org/clinvar/282019 ^@ NM_133378.4(TTN):c.73178C>T (p.Ala24393Val) http://identifiers.org/clinvar/282020 ^@ NM_033071.3(SYNE1):c.14615C>T (p.Ala4872Val) http://identifiers.org/clinvar/282021 ^@ NM_002420.5(TRPM1):c.1035C>A (p.Phe345Leu) http://identifiers.org/clinvar/282022 ^@ NM_000350.2(ABCA4):c.3103C>G (p.Gln1035Glu) http://identifiers.org/clinvar/282023 ^@ NM_005183.3(CACNA1F):c.5862C>T (p.Asp1954=) http://identifiers.org/clinvar/282024 ^@ NM_001845.5(COL4A1):c.4764C>G (p.Ser1588Arg) http://identifiers.org/clinvar/282025 ^@ NM_153026.2(PRICKLE1):c.2275G>A (p.Asp759Asn) http://identifiers.org/clinvar/282026 ^@ NM_172107.3(KCNQ2):c.1887+5G>A http://identifiers.org/clinvar/282027 ^@ NM_001110556.1(FLNA):c.627G>A (p.Leu209=) http://identifiers.org/clinvar/282028 ^@ NM_000217.2(KCNA1):c.1222G>A (p.Val408Met) http://identifiers.org/clinvar/282029 ^@ NM_001267550.2(TTN):c.61448G>T (p.Arg20483Leu) http://identifiers.org/clinvar/282030 ^@ NM_182914.2(SYNE2):c.5389A>G (p.Met1797Val) http://identifiers.org/clinvar/282031 ^@ NM_001849.3(COL6A2):c.1472A>G (p.Asp491Gly) http://identifiers.org/clinvar/282032 ^@ NM_201380.3(PLEC):c.10823C>T (p.Thr3608Met) http://identifiers.org/clinvar/282033 ^@ NM_002857.3(PEX19):c.771+3A>G http://identifiers.org/clinvar/282034 ^@ NM_022437.2(ABCG8):c.1436A>G (p.Tyr479Cys) http://identifiers.org/clinvar/282035 ^@ NM_005199.4(CHRNG):c.913A>G (p.Ile305Val) http://identifiers.org/clinvar/282036 ^@ NM_000080.3(CHRNE):c.103T>C (p.Tyr35His) http://identifiers.org/clinvar/282037 ^@ NM_001267550.2(TTN):c.23094G>C (p.Val7698=) http://identifiers.org/clinvar/282038 ^@ NM_020631.4(PLEKHG5):c.2802C>T (p.Ser934=) http://identifiers.org/clinvar/282039 ^@ NM_000337.5(SGCD):c.333A>T (p.Thr111=) http://identifiers.org/clinvar/282040 ^@ NM_182914.2(SYNE2):c.13747A>C (p.Ser4583Arg) http://identifiers.org/clinvar/282041 ^@ NM_182961.3(SYNE1):c.10584T>G (p.His3528Gln) http://identifiers.org/clinvar/282042 ^@ NM_024757.4(EHMT1):c.824-5_824-3delTTT http://identifiers.org/clinvar/282043 ^@ NM_001129840.1(CACNA1C):c.1341C>T (p.Ile447=) http://identifiers.org/clinvar/282044 ^@ NM_004333.4(BRAF):c.113C>T (p.Ala38Val) http://identifiers.org/clinvar/282045 ^@ NM_017780.3(CHD7):c.7257T>C (p.Asn2419=) http://identifiers.org/clinvar/282046 ^@ NM_001197181.1(TUBB3):c.953G>C (p.Arg318Pro) http://identifiers.org/clinvar/282047 ^@ NM_006086.3(TUBB3):c.606C>T (p.Ile202=) http://identifiers.org/clinvar/282048 ^@ NM_000070.2(CAPN3):c.500T>C (p.Phe167Ser) http://identifiers.org/clinvar/282049 ^@ NM_000071.2(CBS):c.1208C>T (p.Thr403Met) http://identifiers.org/clinvar/282050 ^@ NM_014244.4(ADAMTS2):c.1869C>T (p.Arg623=) http://identifiers.org/clinvar/282051 ^@ NM_001127464.2(ZNF469):c.1285G>A (p.Ala429Thr) http://identifiers.org/clinvar/282052 ^@ NM_000271.4(NPC1):c.2131-6_2131-4delTTT http://identifiers.org/clinvar/282053 ^@ NM_022437.2(ABCG8):c.1656G>A (p.Leu552=) http://identifiers.org/clinvar/282054 ^@ NM_138694.3(PKHD1):c.2639G>A (p.Arg880His) http://identifiers.org/clinvar/282055 ^@ NM_145861.2(EDARADD):c.60G>A (p.Glu20=) http://identifiers.org/clinvar/282056 ^@ NM_007078.2(LDB3):c.1294T>C (p.Ser432Pro) http://identifiers.org/clinvar/282057 ^@ NM_015965.6(NDUFA13):c.45C>A (p.Gly15=) http://identifiers.org/clinvar/282058 ^@ NM_003482.3(KMT2D):c.11864_11893del30 (p.Leu3955_Gln3964del) http://identifiers.org/clinvar/282059 ^@ NM_004612.3(TGFBR1):c.191A>G (p.Lys64Arg) http://identifiers.org/clinvar/282060 ^@ NM_000088.3(COL1A1):c.1767+3_1767+6delGAGT http://identifiers.org/clinvar/282061 ^@ NM_003839.3(TNFRSF11A):c.625G>A (p.Val209Ile) http://identifiers.org/clinvar/282062 ^@ NM_001165927.1(MKS1):c.929-8T>G http://identifiers.org/clinvar/282063 ^@ NM_000235.3(LIPA):c.846A>G (p.Thr282=) http://identifiers.org/clinvar/282064 ^@ NM_001164277.1(SLC37A4):c.878T>C (p.Leu293Pro) http://identifiers.org/clinvar/282065 ^@ NM_014009.3(FOXP3):c.1015C>G (p.Pro339Ala) http://identifiers.org/clinvar/282066 ^@ NM_014639.3(TTC37):c.3207G>C (p.Glu1069Asp) http://identifiers.org/clinvar/282067 ^@ NM_182914.2(SYNE2):c.8474G>A (p.Arg2825Lys) http://identifiers.org/clinvar/282068 ^@ NM_003193.4(TBCE):c.253A>G (p.Ile85Val) http://identifiers.org/clinvar/282069 ^@ NM_001127464.2(ZNF469):c.4343G>A (p.Arg1448Lys) http://identifiers.org/clinvar/282070 ^@ NM_018328.4(MBD5):c.2904G>T (p.Ser968=) http://identifiers.org/clinvar/282071 ^@ NM_003159.2(CDKL5):c.463+5G>T http://identifiers.org/clinvar/282072 ^@ NM_139058.2(ARX):c.1321T>G (p.Phe441Val) http://identifiers.org/clinvar/282073 ^@ NM_014141.5(CNTNAP2):c.2839C>T (p.Leu947Phe) http://identifiers.org/clinvar/282074 ^@ NM_018941.3(CLN8):c.648C>T (p.Phe216=) http://identifiers.org/clinvar/282075 ^@ NM_002693.2(POLG):c.1850G>A (p.Arg617His) http://identifiers.org/clinvar/282076 ^@ NM_173477.4(USH1G):c.151A>C (p.Ile51Leu) http://identifiers.org/clinvar/282077 ^@ NM_002241.4(KCNJ10):c.148C>T (p.Leu50Phe) http://identifiers.org/clinvar/282078 ^@ NM_016239.3(MYO15A):c.730G>A (p.Asp244Asn) http://identifiers.org/clinvar/282079 ^@ NM_000257.3(MYH7):c.5656-8dupT http://identifiers.org/clinvar/282080 ^@ NM_001146289.1(P3H1):c.1721-4C>T http://identifiers.org/clinvar/282081 ^@ NM_001017995.2(SH3PXD2B):c.1398C>T (p.Pro466=) http://identifiers.org/clinvar/282082 ^@ NM_020754.3(ARHGAP31):c.3255C>T (p.Pro1085=) http://identifiers.org/clinvar/282083 ^@ NM_015170.2(SULF1):c.2194C>T (p.Arg732Trp) http://identifiers.org/clinvar/282084 ^@ NM_000493.3(COL10A1):c.720G>A (p.Pro240=) http://identifiers.org/clinvar/282085 ^@ NM_006031.5(PCNT):c.1084C>T (p.Arg362Cys) http://identifiers.org/clinvar/282086 ^@ NM_000088.3(COL1A1):c.2930G>T (p.Gly977Val) http://identifiers.org/clinvar/282087 ^@ NM_006208.2(ENPP1):c.1756G>A (p.Gly586Arg) http://identifiers.org/clinvar/282088 ^@ NM_005708.4(GPC6):c.10T>A (p.Trp4Arg) http://identifiers.org/clinvar/282089 ^@ NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) http://identifiers.org/clinvar/282090 ^@ NM_025114.3(CEP290):c.4337G>A (p.Ser1446Asn) http://identifiers.org/clinvar/282091 ^@ NM_014780.4(CUL7):c.3747G>A (p.Leu1249=) http://identifiers.org/clinvar/282092 ^@ NM_000168.5(GLI3):c.4349T>G (p.Phe1450Cys) http://identifiers.org/clinvar/282093 ^@ NM_004994.2(MMP9):c.1721G>C (p.Arg574Pro) http://identifiers.org/clinvar/282094 ^@ NM_015295.2(SMCHD1):c.3527_3528delCAinsTG (p.Thr1176Met) http://identifiers.org/clinvar/282095 ^@ NM_015295.2(SMCHD1):c.3527C>T (p.Thr1176Ile) http://identifiers.org/clinvar/282096 ^@ NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) http://identifiers.org/clinvar/282097 ^@ NM_201383.2(PLEC):c.5505G>A (p.Ala1835=) http://identifiers.org/clinvar/282098 ^@ NM_201380.3(PLEC):c.10908C>T (p.Asn3636=) http://identifiers.org/clinvar/282099 ^@ NM_001267550.2(TTN):c.24792G>A (p.Pro8264=) http://identifiers.org/clinvar/282100 ^@ NM_182914.2(SYNE2):c.3773A>G (p.Tyr1258Cys) http://identifiers.org/clinvar/282101 ^@ NM_182914.2(SYNE2):c.15006C>T (p.Ser5002=) http://identifiers.org/clinvar/282102 ^@ NM_001267550.2(TTN):c.55290C>T (p.Pro18430=) http://identifiers.org/clinvar/282103 ^@ NM_182914.2(SYNE2):c.18603G>A (p.Arg6201=) http://identifiers.org/clinvar/282104 ^@ NM_182914.2(SYNE2):c.16088A>G (p.His5363Arg) http://identifiers.org/clinvar/282105 ^@ NM_182914.2(SYNE2):c.14844-8C>G http://identifiers.org/clinvar/282106 ^@ NM_004369.3(COL6A3):c.1961A>G (p.Asn654Ser) http://identifiers.org/clinvar/282107 ^@ NM_182914.2(SYNE2):c.9926A>T (p.His3309Leu) http://identifiers.org/clinvar/282108 ^@ NM_000391.3(TPP1):c.687+20C>T http://identifiers.org/clinvar/282109 ^@ NM_003482.3(KMT2D):c.3405A>G (p.Pro1135=) http://identifiers.org/clinvar/282110 ^@ NM_017780.3(CHD7):c.7641_7651delAGATATAGAGA (p.Glu2547Aspfs) http://identifiers.org/clinvar/282111 ^@ NM_004820.4(CYP7B1):c.122+19A>T http://identifiers.org/clinvar/282112 ^@ NM_002180.2(IGHMBP2):c.2197_2203delATAGTGGinsCA (p.Ile733Glnfs) http://identifiers.org/clinvar/282113 ^@ NM_000260.3(MYO7A):c.5860C>G (p.Leu1954Val) http://identifiers.org/clinvar/282114 ^@ NM_033071.3(SYNE1):c.11173A>G (p.Thr3725Ala) http://identifiers.org/clinvar/282115 ^@ NM_033071.3(SYNE1):c.13220T>C (p.Phe4407Ser) http://identifiers.org/clinvar/282116 ^@ NM_001848.2(COL6A1):c.997G>A (p.Val333Met) http://identifiers.org/clinvar/282117 ^@ NM_000070.2(CAPN3):c.305C>T (p.Pro102Leu) http://identifiers.org/clinvar/282118 ^@ NM_182914.2(SYNE2):c.5395T>C (p.Leu1799=) http://identifiers.org/clinvar/282119 ^@ NM_058246.3(DNAJB6):c.*3C>T http://identifiers.org/clinvar/282120 ^@ NM_201383.2(PLEC):c.12795C>T (p.Ala4265=) http://identifiers.org/clinvar/282121 ^@ NM_000232.4(SGCB):c.794C>T (p.Thr265Ile) http://identifiers.org/clinvar/282122 ^@ NM_006790.2(MYOT):c.342C>T (p.Ser114=) http://identifiers.org/clinvar/282123 ^@ NM_001376.4(DYNC1H1):c.12450G>A (p.Pro4150=) http://identifiers.org/clinvar/282124 ^@ NM_000217.2(KCNA1):c.144C>T (p.Phe48=) http://identifiers.org/clinvar/282125 ^@ NM_001165928.3(DAG1):c.286-10delT http://identifiers.org/clinvar/282126 ^@ NM_201382.3(PLEC):c.2580G>A (p.Pro860=) http://identifiers.org/clinvar/282127 ^@ NM_004369.3(COL6A3):c.2525T>C (p.Phe842Ser) http://identifiers.org/clinvar/282128 ^@ NM_001267550.2(TTN):c.53587C>T (p.Pro17863Ser) http://identifiers.org/clinvar/282129 ^@ NM_033071.3(SYNE1):c.21855C>T (p.Thr7285=) http://identifiers.org/clinvar/282130 ^@ NM_001165928.3(DAG1):c.634C>A (p.His212Asn) http://identifiers.org/clinvar/282131 ^@ NM_016239.3(MYO15A):c.1414T>A (p.Ser472Thr) http://identifiers.org/clinvar/282132 ^@ NM_001130823.2(DNMT1):c.4554C>T (p.His1518=) http://identifiers.org/clinvar/282133 ^@ NM_201381.2(PLEC):c.6411G>A (p.Lys2137=) http://identifiers.org/clinvar/282134 ^@ NM_003494.3(DYSF):c.5982_5989dupGAGTGAGC (p.His1997Argfs) http://identifiers.org/clinvar/282135 ^@ NM_004369.3(COL6A3):c.4662C>T (p.Asp1554=) http://identifiers.org/clinvar/282136 ^@ NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg) http://identifiers.org/clinvar/282137 ^@ NM_201380.3(PLEC):c.10070G>A (p.Arg3357Gln) http://identifiers.org/clinvar/282138 ^@ NM_000152.4(GAA):c.258C>A (p.Pro86=) http://identifiers.org/clinvar/282139 ^@ NM_006922.3(SCN3A):c.1381-4A>G http://identifiers.org/clinvar/282140 ^@ NM_000350.2(ABCA4):c.6184_6187delGTCT (p.Val2062Thrfs) http://identifiers.org/clinvar/282141 ^@ NM_000350.2(ABCA4):c.850_857delATTCAAGA (p.Ile284Valfs) http://identifiers.org/clinvar/282142 ^@ NM_001879.5(MASP1):c.501C>G (p.Ser167=) http://identifiers.org/clinvar/282143 ^@ NM_004086.2(COCH):c.1026C>T (p.Tyr342=) http://identifiers.org/clinvar/282144 ^@ NM_206933.2(USH2A):c.15494C>G (p.Ala5165Gly) http://identifiers.org/clinvar/282145 ^@ NM_138691.2(TMC1):c.534A>T (p.Glu178Asp) http://identifiers.org/clinvar/282146 ^@ NM_014208.3(DSPP):c.1791T>C (p.Asp597=) http://identifiers.org/clinvar/282147 ^@ NM_004700.3(KCNQ4):c.1475G>A (p.Arg492Gln) http://identifiers.org/clinvar/282148 ^@ NM_017547.3(FOXRED1):c.1087C>T (p.Arg363Cys) http://identifiers.org/clinvar/282149 ^@ NM_000742.3(CHRNA2):c.937C>T (p.Leu313Phe) http://identifiers.org/clinvar/282150 ^@ NM_000833.4(GRIN2A):c.2894C>T (p.Thr965Ile) http://identifiers.org/clinvar/282151 ^@ NM_005045.3(RELN):c.1013T>G (p.Val338Gly) http://identifiers.org/clinvar/282152 ^@ NM_004700.3(KCNQ4):c.-14G>T http://identifiers.org/clinvar/282153 ^@ NM_004006.2(DMD):c.-188delC http://identifiers.org/clinvar/282154 ^@ NM_213599.2(ANO5):c.553G>C (p.Glu185Gln) http://identifiers.org/clinvar/282155 ^@ NM_015295.2(SMCHD1):c.1867C>A (p.Leu623Ile) http://identifiers.org/clinvar/282156 ^@ NM_015295.2(SMCHD1):c.4166-1G>T http://identifiers.org/clinvar/282157 ^@ NM_012210.3(TRIM32):c.1162G>A (p.Ala388Thr) http://identifiers.org/clinvar/282158 ^@ NM_000170.2(GLDC):c.2426_2427insGTTC (p.Ile810Phefs) http://identifiers.org/clinvar/282159 ^@ NM_170707.3(LMNA):c.1628T>C (p.Leu543Pro) http://identifiers.org/clinvar/282160 ^@ NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr) http://identifiers.org/clinvar/282161 ^@ NM_001101426.3(ISPD):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/282162 ^@ NM_033071.3(SYNE1):c.22456A>G (p.Ile7486Val) http://identifiers.org/clinvar/282163 ^@ NM_001267550.2(TTN):c.72026G>C (p.Ser24009Thr) http://identifiers.org/clinvar/282164 ^@ NM_003494.3(DYSF):c.1049C>T (p.Ala350Val) http://identifiers.org/clinvar/282165 ^@ NM_213599.2(ANO5):c.1563G>T (p.Leu521Phe) http://identifiers.org/clinvar/282166 ^@ NM_182914.2(SYNE2):c.20117G>A (p.Arg6706Gln) http://identifiers.org/clinvar/282167 ^@ NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys) http://identifiers.org/clinvar/282168 ^@ NM_201382.3(PLEC):c.10732G>A (p.Gly3578Ser) http://identifiers.org/clinvar/282169 ^@ NM_001267550.2(TTN):c.46408C>T (p.Arg15470Cys) http://identifiers.org/clinvar/282170 ^@ NM_000231.2(SGCG):c.507G>T (p.Gly169=) http://identifiers.org/clinvar/282171 ^@ NM_013382.5(POMT2):c.2072G>T (p.Gly691Val) http://identifiers.org/clinvar/282172 ^@ NM_001267550.2(TTN):c.51287C>T (p.Pro17096Leu) http://identifiers.org/clinvar/282173 ^@ NM_000070.2(CAPN3):c.1303G>A (p.Glu435Lys) http://identifiers.org/clinvar/282174 ^@ NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) http://identifiers.org/clinvar/282175 ^@ NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter) http://identifiers.org/clinvar/282176 ^@ NM_007171.3(POMT1):c.634G>A (p.Val212Met) http://identifiers.org/clinvar/282177 ^@ NM_182961.3(SYNE1):c.18748T>C (p.Ser6250Pro) http://identifiers.org/clinvar/282178 ^@ NM_001101426.3(ISPD):c.531C>T (p.His177=) http://identifiers.org/clinvar/282179 ^@ NM_033071.3(SYNE1):c.22090C>T (p.Arg7364Cys) http://identifiers.org/clinvar/282180 ^@ NM_213599.2(ANO5):c.2417A>G (p.Tyr806Cys) http://identifiers.org/clinvar/282181 ^@ NM_000117.2(EMD):c.662G>T (p.Arg221Leu) http://identifiers.org/clinvar/282182 ^@ NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu) http://identifiers.org/clinvar/282183 ^@ NM_001849.3(COL6A2):c.2810G>A (p.Arg937Gln) http://identifiers.org/clinvar/282184 ^@ NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) http://identifiers.org/clinvar/282185 ^@ NM_000445.4(PLEC):c.11218G>A (p.Gly3740Arg) http://identifiers.org/clinvar/282186 ^@ NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys) http://identifiers.org/clinvar/282187 ^@ NM_001267550.2(TTN):c.43159G>A (p.Glu14387Lys) http://identifiers.org/clinvar/282188 ^@ NM_201378.3(PLEC):c.3100G>A (p.Glu1034Lys) http://identifiers.org/clinvar/282189 ^@ NM_182914.2(SYNE2):c.19415C>T (p.Ser6472Leu) http://identifiers.org/clinvar/282190 ^@ NM_004369.3(COL6A3):c.121_123delATA (p.Ile41del) http://identifiers.org/clinvar/282191 ^@ NM_000023.3(SGCA):c.359T>G (p.Leu120Arg) http://identifiers.org/clinvar/282192 ^@ NM_201380.3(PLEC):c.4072G>T (p.Ala1358Ser) http://identifiers.org/clinvar/282193 ^@ NM_182961.3(SYNE1):c.18480C>T (p.Asp6160=) http://identifiers.org/clinvar/282194 ^@ NM_001267550.2(TTN):c.29457_29458insA (p.Glu9820Argfs) http://identifiers.org/clinvar/282195 ^@ NM_004369.3(COL6A3):c.7607C>T (p.Ala2536Val) http://identifiers.org/clinvar/282196 ^@ NM_006790.2(MYOT):c.1083dupA (p.Glu362Argfs) http://identifiers.org/clinvar/282197 ^@ NM_001267550.2(TTN):c.47732T>C (p.Met15911Thr) http://identifiers.org/clinvar/282198 ^@ NM_000445.4(PLEC):c.2742C>T (p.His914=) http://identifiers.org/clinvar/282199 ^@ NM_001267550.2(TTN):c.7927G>T (p.Val2643Phe) http://identifiers.org/clinvar/282200 ^@ NM_213599.2(ANO5):c.1203G>T (p.Trp401Cys) http://identifiers.org/clinvar/282201 ^@ NM_015295.2(SMCHD1):c.3312G>C (p.Leu1104Phe) http://identifiers.org/clinvar/282202 ^@ NM_001130987.1(DYSF):c.5459G>A (p.Gly1820Glu) http://identifiers.org/clinvar/282203 ^@ NM_000445.4(PLEC):c.13590C>T (p.Arg4530=) http://identifiers.org/clinvar/282204 ^@ NM_182914.2(SYNE2):c.12673C>T (p.Pro4225Ser) http://identifiers.org/clinvar/282205 ^@ NM_182914.2(SYNE2):c.6880-5C>T http://identifiers.org/clinvar/282206 ^@ NM_033071.3(SYNE1):c.13555A>G (p.Asn4519Asp) http://identifiers.org/clinvar/282207 ^@ NM_004369.3(COL6A3):c.5953G>A (p.Val1985Met) http://identifiers.org/clinvar/282208 ^@ NM_182914.2(SYNE2):c.16229A>G (p.Gln5410Arg) http://identifiers.org/clinvar/282209 ^@ NM_003494.3(DYSF):c.1351A>G (p.Met451Val) http://identifiers.org/clinvar/282210 ^@ NM_001849.3(COL6A2):c.2182G>A (p.Val728Met) http://identifiers.org/clinvar/282211 ^@ NM_182961.3(SYNE1):c.18957_18962delGGAACA (p.Glu6322_Gln6323del) http://identifiers.org/clinvar/282213 ^@ NM_005270.4(GLI2):c.4030C>T (p.Leu1344=) http://identifiers.org/clinvar/282214 ^@ NM_014140.3(SMARCAL1):c.2765T>C (p.Met922Thr) http://identifiers.org/clinvar/282215 ^@ NM_000875.4(IGF1R):c.1950G>T (p.Arg650=) http://identifiers.org/clinvar/282216 ^@ NM_014780.4(CUL7):c.2229C>G (p.Ala743=) http://identifiers.org/clinvar/282217 ^@ NM_000208.3(INSR):c.1433G>A (p.Arg478His) http://identifiers.org/clinvar/282218 ^@ NM_001042537.1(SLC9A6):c.2067G>A (p.Pro689=) http://identifiers.org/clinvar/282219 ^@ NM_001042537.1(SLC9A6):c.1041+7T>G http://identifiers.org/clinvar/282220 ^@ NM_016180.4(SLC45A2):c.1152T>G (p.Tyr384Ter) http://identifiers.org/clinvar/282221 ^@ NM_014639.3(TTC37):c.2789C>A (p.Ala930Glu) http://identifiers.org/clinvar/282222 ^@ NM_024747.5(HPS6):c.1779G>A (p.Pro593=) http://identifiers.org/clinvar/282223 ^@ NM_014639.3(TTC37):c.3940G>A (p.Glu1314Lys) http://identifiers.org/clinvar/282224 ^@ NM_001127897.3(RPGRIP1L):c.116G>A (p.Arg39His) http://identifiers.org/clinvar/282225 ^@ NM_001927.3(DES):c.210G>C (p.Arg70=) http://identifiers.org/clinvar/282227 ^@ NM_001291858.1(IGF1R):c.3184-2A>T http://identifiers.org/clinvar/282228 ^@ NM_003030.4(SHOX2):c.295A>T (p.Met99Leu) http://identifiers.org/clinvar/282229 ^@ NM_004006.2(DMD):c.5089C>T (p.Gln1697Ter) http://identifiers.org/clinvar/282230 ^@ NM_004006.2(DMD):c.2603delG (p.Ser868Ilefs) http://identifiers.org/clinvar/282231 ^@ NM_019066.4(MAGEL2):c.1467_1487del21 (p.Leu492_Pro498del) http://identifiers.org/clinvar/282232 ^@ NM_033517.1(SHANK3):c.1342-280dupG http://identifiers.org/clinvar/282233 ^@ NM_004006.2(DMD):c.2512C>T (p.Gln838Ter) http://identifiers.org/clinvar/282234 ^@ NM_006031.5(PCNT):c.481_519dup39 (p.Thr173_Ile174insValSerAspHisProProGluGlnArgGlyMetPheThr) http://identifiers.org/clinvar/282235 ^@ NM_001849.3(COL6A2):c.1152G>A (p.Pro384=) http://identifiers.org/clinvar/282236 ^@ NM_033071.3(SYNE1):c.21310-8T>G http://identifiers.org/clinvar/282237 ^@ NM_001849.3(COL6A2):c.1817-3delC http://identifiers.org/clinvar/282238 ^@ NM_001848.2(COL6A1):c.931-1G>A http://identifiers.org/clinvar/282239 ^@ NM_001849.3(COL6A2):c.1817-8C>A http://identifiers.org/clinvar/282240 ^@ NM_001267550.2(TTN):c.14746A>G (p.Lys4916Glu) http://identifiers.org/clinvar/282241 ^@ NM_033071.3(SYNE1):c.9955G>A (p.Asp3319Asn) http://identifiers.org/clinvar/282242 ^@ NM_000152.4(GAA):c.1828G>A (p.Ala610Thr) http://identifiers.org/clinvar/282243 ^@ NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) http://identifiers.org/clinvar/282244 ^@ NM_201382.3(PLEC):c.12064C>T (p.Leu4022Phe) http://identifiers.org/clinvar/282245 ^@ NM_024301.4(FKRP):c.374T>C (p.Phe125Ser) http://identifiers.org/clinvar/282246 ^@ NM_033071.3(SYNE1):c.1859C>T (p.Ser620Phe) http://identifiers.org/clinvar/282247 ^@ NM_024301.4(FKRP):c.545A>G (p.Tyr182Cys) http://identifiers.org/clinvar/282248 ^@ NM_000232.4(SGCB):c.31C>G (p.Gln11Glu) http://identifiers.org/clinvar/282249 ^@ NM_000232.4(SGCB):c.355A>T (p.Ile119Phe) http://identifiers.org/clinvar/282250 ^@ NM_000709.3(BCKDHA):c.565C>T (p.Arg189Cys) http://identifiers.org/clinvar/282251 ^@ NM_000321.2(RB1):c.376delA (p.Ile126Serfs) http://identifiers.org/clinvar/282252 ^@ NM_000451.3(SHOX):c.864G>A (p.Glu288=) http://identifiers.org/clinvar/282253 ^@ NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) http://identifiers.org/clinvar/282254 ^@ NM_000152.4(GAA):c.934delC (p.Leu312Cysfs) http://identifiers.org/clinvar/282255 ^@ NM_000208.3(INSR):c.2665C>T (p.Arg889Trp) http://identifiers.org/clinvar/282256 ^@ NM_148898.3(FOXP2):c.1537T>G (p.Ser513Ala) http://identifiers.org/clinvar/282257 ^@ NM_025114.3(CEP290):c.181-2A>G http://identifiers.org/clinvar/282258 ^@ NM_025137.3(SPG11):c.4744-6T>C http://identifiers.org/clinvar/282259 ^@ NM_025114.3(CEP290):c.5803G>T (p.Glu1935Ter) http://identifiers.org/clinvar/282260 ^@ NM_000350.2(ABCA4):c.6113G>A (p.Arg2038Gln) http://identifiers.org/clinvar/282261 ^@ NM_007255.2(B4GALT7):c.38G>A (p.Trp13Ter) http://identifiers.org/clinvar/282262 ^@ NM_002310.5(LIFR):c.1357T>C (p.Trp453Arg) http://identifiers.org/clinvar/282263 ^@ NM_006031.5(PCNT):c.247G>C (p.Gly83Arg) http://identifiers.org/clinvar/282264 ^@ NM_000168.5(GLI3):c.2200G>A (p.Asp734Asn) http://identifiers.org/clinvar/282265 ^@ NM_006907.3(PYCR1):c.334C>T (p.Arg112Trp) http://identifiers.org/clinvar/282266 ^@ NM_003193.4(TBCE):c.1465C>A (p.Leu489Ile) http://identifiers.org/clinvar/282267 ^@ NM_016346.3(NR2E3):c.205G>A (p.Gly69Ser) http://identifiers.org/clinvar/282268 ^@ NM_001360.2(DHCR7):c.1348delC (p.Arg450Alafs) http://identifiers.org/clinvar/282269 ^@ NM_004369.3(COL6A3):c.1007G>A (p.Arg336Gln) http://identifiers.org/clinvar/282270 ^@ NM_201382.3(PLEC):c.6059A>C (p.Glu2020Ala) http://identifiers.org/clinvar/282271 ^@ NM_182914.2(SYNE2):c.2665A>G (p.Asn889Asp) http://identifiers.org/clinvar/282272 ^@ NM_001128227.2(GNE):c.1505-5C>T http://identifiers.org/clinvar/282273 ^@ NM_182914.2(SYNE2):c.3039A>G (p.Gln1013=) http://identifiers.org/clinvar/282274 ^@ NM_001128227.2(GNE):c.1335T>C (p.Leu445=) http://identifiers.org/clinvar/282275 ^@ NM_004369.3(COL6A3):c.9290T>C (p.Leu3097Pro) http://identifiers.org/clinvar/282276 ^@ NM_001128227.2(GNE):c.862+4dupA http://identifiers.org/clinvar/282277 ^@ NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) http://identifiers.org/clinvar/282278 ^@ NM_004369.3(COL6A3):c.7983C>T (p.Phe2661=) http://identifiers.org/clinvar/282279 ^@ NM_001267550.2(TTN):c.46208C>T (p.Thr15403Ile) http://identifiers.org/clinvar/282280 ^@ NM_001267550.2(TTN):c.84525G>T (p.Trp28175Cys) http://identifiers.org/clinvar/282281 ^@ NM_024301.4(FKRP):c.1268G>C (p.Arg423Pro) http://identifiers.org/clinvar/282282 ^@ NM_001101426.3(ISPD):c.191C>T (p.Thr64Ile) http://identifiers.org/clinvar/282283 ^@ NM_001267550.2(TTN):c.56171A>C (p.Lys18724Thr) http://identifiers.org/clinvar/282284 ^@ NM_033071.3(SYNE1):c.21227T>C (p.Met7076Thr) http://identifiers.org/clinvar/282285 ^@ NM_000445.4(PLEC):c.11899G>A (p.Val3967Met) http://identifiers.org/clinvar/282286 ^@ NM_182914.2(SYNE2):c.18168T>C (p.Asp6056=) http://identifiers.org/clinvar/282287 ^@ NM_000445.4(PLEC):c.5734G>A (p.Ala1912Thr) http://identifiers.org/clinvar/282288 ^@ NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser) http://identifiers.org/clinvar/282289 ^@ NM_182914.2(SYNE2):c.20140G>A (p.Asp6714Asn) http://identifiers.org/clinvar/282290 ^@ NM_000231.2(SGCG):c.302C>T (p.Ser101Leu) http://identifiers.org/clinvar/282291 ^@ NM_004369.3(COL6A3):c.5908C>T (p.Arg1970Cys) http://identifiers.org/clinvar/282292 ^@ NM_213599.2(ANO5):c.664T>C (p.Ser222Pro) http://identifiers.org/clinvar/282293 ^@ NM_004006.2(DMD):c.8111_8112insTTGCCTG (p.Trp2704Cysfs) http://identifiers.org/clinvar/282294 ^@ NM_015295.2(SMCHD1):c.5958T>A (p.Pro1986=) http://identifiers.org/clinvar/282295 ^@ NM_033071.3(SYNE1):c.8381C>T (p.Thr2794Met) http://identifiers.org/clinvar/282296 ^@ NM_004369.3(COL6A3):c.4423G>T (p.Val1475Phe) http://identifiers.org/clinvar/282297 ^@ NM_201380.3(PLEC):c.3420C>T (p.Thr1140=) http://identifiers.org/clinvar/282298 ^@ NM_001849.3(COL6A2):c.138C>T (p.His46=) http://identifiers.org/clinvar/282299 ^@ NM_016239.3(MYO15A):c.3866+1G>A http://identifiers.org/clinvar/282300 ^@ NM_005270.4(GLI2):c.607G>A (p.Ala203Thr) http://identifiers.org/clinvar/282301 ^@ NM_014780.4(CUL7):c.2164C>T (p.Arg722Ter) http://identifiers.org/clinvar/282302 ^@ NM_133379.4(TTN):c.10070C>T (p.Ser3357Phe) http://identifiers.org/clinvar/282303 ^@ NM_182914.2(SYNE2):c.5710C>T (p.His1904Tyr) http://identifiers.org/clinvar/282304 ^@ NM_012210.3(TRIM32):c.-5G>A http://identifiers.org/clinvar/282305 ^@ NM_001256850.1(TTN):c.93175+3G>A http://identifiers.org/clinvar/282306 ^@ NM_201382.3(PLEC):c.8899G>C (p.Glu2967Gln) http://identifiers.org/clinvar/282307 ^@ NM_001165928.3(DAG1):c.1205G>T (p.Arg402Leu) http://identifiers.org/clinvar/282308 ^@ NM_201383.2(PLEC):c.8813C>T (p.Thr2938Met) http://identifiers.org/clinvar/282309 ^@ NM_000445.4(PLEC):c.10543G>A (p.Ala3515Thr) http://identifiers.org/clinvar/282310 ^@ NM_004006.2(DMD):c.3047G>A (p.Arg1016Gln) http://identifiers.org/clinvar/282311 ^@ NM_000152.4(GAA):c.1947C>T (p.Phe649=) http://identifiers.org/clinvar/282312 ^@ NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) http://identifiers.org/clinvar/282313 ^@ NM_201383.2(PLEC):c.11176C>T (p.Leu3726=) http://identifiers.org/clinvar/282314 ^@ NM_033071.3(SYNE1):c.14008C>T (p.Arg4670Cys) http://identifiers.org/clinvar/282315 ^@ NM_213599.2(ANO5):c.2520+6C>T http://identifiers.org/clinvar/282316 ^@ NM_003494.3(DYSF):c.339delA (p.Ala115Profs) http://identifiers.org/clinvar/282317 ^@ NM_201382.3(PLEC):c.11910G>A (p.Gln3970=) http://identifiers.org/clinvar/282318 ^@ NM_182961.3(SYNE1):c.5049G>T (p.Met1683Ile) http://identifiers.org/clinvar/282319 ^@ NM_033071.3(SYNE1):c.12360C>T (p.Thr4120=) http://identifiers.org/clinvar/282320 ^@ NM_033071.3(SYNE1):c.13951G>A (p.Glu4651Lys) http://identifiers.org/clinvar/282321 ^@ NM_182961.3(SYNE1):c.17121T>C (p.Pro5707=) http://identifiers.org/clinvar/282322 ^@ NM_058246.3(DNAJB6):c.48C>T (p.Pro16=) http://identifiers.org/clinvar/282323 ^@ NM_182961.3(SYNE1):c.8311G>A (p.Val2771Ile) http://identifiers.org/clinvar/282324 ^@ NM_182961.3(SYNE1):c.12584delA (p.Lys4195Argfs) http://identifiers.org/clinvar/282325 ^@ NM_001267550.2(TTN):c.80964C>G (p.Asp26988Glu) http://identifiers.org/clinvar/282326 ^@ NM_201383.2(PLEC):c.7133G>A (p.Arg2378Gln) http://identifiers.org/clinvar/282327 ^@ NM_000392.4(ABCC2):c.3188A>G (p.Asn1063Ser) http://identifiers.org/clinvar/282328 ^@ NM_000392.4(ABCC2):c.2073C>A (p.Val691=) http://identifiers.org/clinvar/282329 ^@ NM_000392.4(ABCC2):c.2743C>T (p.Arg915Cys) http://identifiers.org/clinvar/282330 ^@ NM_000392.4(ABCC2):c.2944A>G (p.Ile982Val) http://identifiers.org/clinvar/282331 ^@ NM_000392.4(ABCC2):c.2813G>A (p.Ser938Asn) http://identifiers.org/clinvar/282332 ^@ NM_000875.4(IGF1R):c.1336A>G (p.Met446Val) http://identifiers.org/clinvar/282333 ^@ NM_014780.4(CUL7):c.2614G>A (p.Gly872Ser) http://identifiers.org/clinvar/282334 ^@ NM_153818.1(PEX10):c.895G>T (p.Glu299Ter) http://identifiers.org/clinvar/282335 ^@ NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter) http://identifiers.org/clinvar/282336 ^@ NM_152296.4(ATP1A3):c.113T>C (p.Val38Ala) http://identifiers.org/clinvar/282337 ^@ NM_003477.2(PDHX):c.317A>G (p.Asp106Gly) http://identifiers.org/clinvar/282338 ^@ NM_001110556.1(FLNA):c.1107C>T (p.Pro369=) http://identifiers.org/clinvar/282339 ^@ NM_014140.3(SMARCAL1):c.2778G>A (p.Leu926=) http://identifiers.org/clinvar/282340 ^@ NM_003482.3(KMT2D):c.9729C>T (p.Ser3243=) http://identifiers.org/clinvar/282341 ^@ NM_012448.3(STAT5B):c.247C>T (p.Leu83=) http://identifiers.org/clinvar/282342 ^@ NM_005120.2(MED12):c.3354+6A>G http://identifiers.org/clinvar/282343 ^@ NM_001077482.2(NR1I3):c.108_110delGAG (p.Arg37del) http://identifiers.org/clinvar/282344 ^@ NM_000208.3(INSR):c.3111G>A (p.Val1037=) http://identifiers.org/clinvar/282345 ^@ NM_144773.3(PROKR2):c.802C>T (p.Arg268Cys) http://identifiers.org/clinvar/282346 ^@ NM_006412.3(AGPAT2):c.269G>A (p.Arg90His) http://identifiers.org/clinvar/282347 ^@ NM_001079867.1(PEX2):c.209A>G (p.Tyr70Cys) http://identifiers.org/clinvar/282348 ^@ NM_022437.2(ABCG8):c.322+10A>G http://identifiers.org/clinvar/282349 ^@ NM_004817.3(TJP2):c.1697T>A (p.Leu566Ter) http://identifiers.org/clinvar/282350 ^@ NM_018668.4(VPS33B):c.153A>G (p.Arg51=) http://identifiers.org/clinvar/282351 ^@ NM_001165927.1(MKS1):c.1333G>C (p.Glu445Gln) http://identifiers.org/clinvar/282352 ^@ NM_004463.2(FGD1):c.2314G>A (p.Val772Ile) http://identifiers.org/clinvar/282353 ^@ NM_032575.2(GLIS2):c.693C>T (p.Asn231=) http://identifiers.org/clinvar/282354 ^@ NM_206933.2(USH2A):c.6602A>T (p.Gln2201Leu) http://identifiers.org/clinvar/282355 ^@ NM_001142301.1(TMEM67):c.620C>A (p.Ser207Ter) http://identifiers.org/clinvar/282356 ^@ NM_178452.5(DNAAF1):c.735C>T (p.Pro245=) http://identifiers.org/clinvar/282357 ^@ NM_001492.5(GDF1):c.203G>A (p.Arg68His) http://identifiers.org/clinvar/282358 ^@ NM_018136.4(ASPM):c.6816A>G (p.Arg2272=) http://identifiers.org/clinvar/282359 ^@ NM_001083961.1(WDR62):c.477G>A (p.Ala159=) http://identifiers.org/clinvar/282360 ^@ NM_001267550.2(TTN):c.86601T>C (p.Asp28867=) http://identifiers.org/clinvar/282361 ^@ NM_001267550.2(TTN):c.76386_76388delTAA (p.Asn25462del) http://identifiers.org/clinvar/282362 ^@ NM_000152.4(GAA):c.2647-8C>T http://identifiers.org/clinvar/282363 ^@ NM_005691.3(ABCC9):c.970C>T (p.Arg324Cys) http://identifiers.org/clinvar/282364 ^@ NM_018136.4(ASPM):c.8166T>C (p.Tyr2722=) http://identifiers.org/clinvar/282365 ^@ NM_014141.5(CNTNAP2):c.180C>T (p.Pro60=) http://identifiers.org/clinvar/282366 ^@ NM_001110556.1(FLNA):c.1030G>A (p.Val344Ile) http://identifiers.org/clinvar/282367 ^@ NM_002025.3(AFF2):c.1424C>G (p.Pro475Arg) http://identifiers.org/clinvar/282368 ^@ NM_138694.3(PKHD1):c.3009T>C (p.Gly1003=) http://identifiers.org/clinvar/282369 ^@ NM_138694.3(PKHD1):c.1796C>T (p.Pro599Leu) http://identifiers.org/clinvar/282370 ^@ NM_001271208.1(NEB):c.21229G>A (p.Glu7077Lys) http://identifiers.org/clinvar/282371 ^@ NM_000271.4(NPC1):c.3717C>T (p.His1239=) http://identifiers.org/clinvar/282372 ^@ NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) http://identifiers.org/clinvar/282373 ^@ NM_001271208.1(NEB):c.6385C>T (p.Gln2129Ter) http://identifiers.org/clinvar/282375 ^@ NM_003688.3(CASK):c.1315-10A>G http://identifiers.org/clinvar/282376 ^@ NM_198525.2(KIF7):c.1189G>A (p.Ala397Thr) http://identifiers.org/clinvar/282377 ^@ NM_004260.3(RECQL4):c.431G>A (p.Gly144Asp) http://identifiers.org/clinvar/282378 ^@ NM_005996.3(TBX3):c.1126T>A (p.Ser376Thr) http://identifiers.org/clinvar/282379 ^@ NM_025114.3(CEP290):c.4476A>G (p.Glu1492=) http://identifiers.org/clinvar/282380 ^@ NM_133433.3(NIPBL):c.2171C>T (p.Thr724Ile) http://identifiers.org/clinvar/282381 ^@ NM_000523.3(HOXD13):c.41C>T (p.Ala14Val) http://identifiers.org/clinvar/282382 ^@ NM_014918.4(CHSY1):c.666G>A (p.Gly222=) http://identifiers.org/clinvar/282383 ^@ NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) http://identifiers.org/clinvar/282384 ^@ NM_000304.3(PMP22):c.117G>A (p.Trp39Ter) http://identifiers.org/clinvar/282385 ^@ NM_014363.5(SACS):c.1373C>T (p.Thr458Ile) http://identifiers.org/clinvar/282386 ^@ NM_004321.7(KIF1A):c.4865C>T (p.Ala1622Val) http://identifiers.org/clinvar/282387 ^@ NM_013382.5(POMT2):c.1568A>C (p.Asn523Thr) http://identifiers.org/clinvar/282388 ^@ NM_000152.4(GAA):c.2391C>T (p.Ala797=) http://identifiers.org/clinvar/282389 ^@ NM_004006.2(DMD):c.1184G>A (p.Arg395Gln) http://identifiers.org/clinvar/282390 ^@ NM_001849.3(COL6A2):c.2536G>A (p.Glu846Lys) http://identifiers.org/clinvar/282391 ^@ NM_182914.2(SYNE2):c.1175T>C (p.Leu392Pro) http://identifiers.org/clinvar/282392 ^@ NM_201380.3(PLEC):c.10783C>T (p.Arg3595Trp) http://identifiers.org/clinvar/282393 ^@ NM_201380.3(PLEC):c.10932C>T (p.Asp3644=) http://identifiers.org/clinvar/282394 ^@ NM_213599.2(ANO5):c.1640G>A (p.Arg547Gln) http://identifiers.org/clinvar/282395 ^@ NM_015295.2(SMCHD1):c.3633+7C>T http://identifiers.org/clinvar/282396 ^@ NM_201380.3(PLEC):c.5414A>C (p.Glu1805Ala) http://identifiers.org/clinvar/282397 ^@ NM_213599.2(ANO5):c.2521-7C>T http://identifiers.org/clinvar/282398 ^@ NM_033071.3(SYNE1):c.23765+10G>A http://identifiers.org/clinvar/282399 ^@ NM_015295.2(SMCHD1):c.306G>A (p.Ser102=) http://identifiers.org/clinvar/282400 ^@ NM_000445.4(PLEC):c.4707G>A (p.Arg1569=) http://identifiers.org/clinvar/282401 ^@ NM_001267550.2(TTN):c.100363A>G (p.Lys33455Glu) http://identifiers.org/clinvar/282402 ^@ NM_001267550.2(TTN):c.95434G>A (p.Gly31812Ser) http://identifiers.org/clinvar/282403 ^@ NM_033071.3(SYNE1):c.25712T>C (p.Leu8571Pro) http://identifiers.org/clinvar/282404 ^@ NM_013382.5(POMT2):c.651C>T (p.Ala217=) http://identifiers.org/clinvar/282405 ^@ NM_201381.2(PLEC):c.7431C>T (p.Ile2477=) http://identifiers.org/clinvar/282406 ^@ NM_033071.3(SYNE1):c.529C>T (p.Arg177Trp) http://identifiers.org/clinvar/282407 ^@ NM_182914.2(SYNE2):c.13461G>C (p.Met4487Ile) http://identifiers.org/clinvar/282408 ^@ NM_001130987.1(DYSF):c.5746T>C (p.Tyr1916His) http://identifiers.org/clinvar/282409 ^@ NM_182914.2(SYNE2):c.1873C>T (p.His625Tyr) http://identifiers.org/clinvar/282410 ^@ NM_001130987.1(DYSF):c.1264G>A (p.Asp422Asn) http://identifiers.org/clinvar/282411 ^@ NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp) http://identifiers.org/clinvar/282412 ^@ NM_001267550.2(TTN):c.106532-8T>C http://identifiers.org/clinvar/282413 ^@ NM_201382.3(PLEC):c.1262C>T (p.Ser421Leu) http://identifiers.org/clinvar/282414 ^@ NM_001165928.3(DAG1):c.1905C>T (p.Phe635=) http://identifiers.org/clinvar/282415 ^@ NM_033071.3(SYNE1):c.20437A>C (p.Ile6813Leu) http://identifiers.org/clinvar/282416 ^@ NM_133378.4(TTN):c.97670C>T (p.Thr32557Met) http://identifiers.org/clinvar/282417 ^@ NM_001848.2(COL6A1):c.2358C>T (p.Leu786=) http://identifiers.org/clinvar/282418 ^@ NM_015295.2(SMCHD1):c.1655G>A (p.Arg552Gln) http://identifiers.org/clinvar/282419 ^@ NM_201382.3(PLEC):c.2951G>A (p.Arg984His) http://identifiers.org/clinvar/282420 ^@ NM_024301.4(FKRP):c.1306C>T (p.Arg436Trp) http://identifiers.org/clinvar/282421 ^@ NM_201383.2(PLEC):c.1275+8G>A http://identifiers.org/clinvar/282422 ^@ NM_201380.3(PLEC):c.1674+7G>C http://identifiers.org/clinvar/282423 ^@ NM_001130987.1(DYSF):c.4037C>T (p.Ala1346Val) http://identifiers.org/clinvar/282424 ^@ NM_004369.3(COL6A3):c.6425G>A (p.Arg2142Gln) http://identifiers.org/clinvar/282425 ^@ NM_182914.2(SYNE2):c.4168G>T (p.Asp1390Tyr) http://identifiers.org/clinvar/282427 ^@ NM_015295.2(SMCHD1):c.5937G>A (p.Thr1979=) http://identifiers.org/clinvar/282428 ^@ NM_000445.4(PLEC):c.3456C>G (p.Leu1152=) http://identifiers.org/clinvar/282429 ^@ NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) http://identifiers.org/clinvar/282430 ^@ NM_004369.3(COL6A3):c.3619C>A (p.Gln1207Lys) http://identifiers.org/clinvar/282431 ^@ NM_004006.2(DMD):c.650-7C>T http://identifiers.org/clinvar/282432 ^@ NM_001267550.2(TTN):c.39676G>T (p.Val13226Phe) http://identifiers.org/clinvar/282433 ^@ NM_058246.3(DNAJB6):c.478+10C>T http://identifiers.org/clinvar/282434 ^@ NM_001267550.2(TTN):c.90237C>T (p.His30079=) http://identifiers.org/clinvar/282435 ^@ NM_004369.3(COL6A3):c.7030-4C>G http://identifiers.org/clinvar/282436 ^@ NM_017739.3(POMGNT1):c.355-9A>G http://identifiers.org/clinvar/282437 ^@ NM_001267550.2(TTN):c.9714G>A (p.Pro3238=) http://identifiers.org/clinvar/282438 ^@ NM_033071.3(SYNE1):c.21273C>T (p.Ser7091=) http://identifiers.org/clinvar/282439 ^@ NM_033071.3(SYNE1):c.22020C>A (p.Asp7340Glu) http://identifiers.org/clinvar/282440 ^@ NM_001849.3(COL6A2):c.472G>A (p.Val158Met) http://identifiers.org/clinvar/282441 ^@ NM_012210.3(TRIM32):c.201T>C (p.Ile67=) http://identifiers.org/clinvar/282442 ^@ NM_001267550.2(TTN):c.52102+5G>C http://identifiers.org/clinvar/282443 ^@ NM_001848.2(COL6A1):c.*8T>G http://identifiers.org/clinvar/282444 ^@ NM_001267550.2(TTN):c.92368G>A (p.Glu30790Lys) http://identifiers.org/clinvar/282445 ^@ NM_004369.3(COL6A3):c.958G>A (p.Ala320Thr) http://identifiers.org/clinvar/282446 ^@ NM_012470.3(TNPO3):c.2741C>T (p.Ala914Val) http://identifiers.org/clinvar/282447 ^@ NM_013382.5(POMT2):c.1124_1125insAC (p.Tyr376Profs) http://identifiers.org/clinvar/282448 ^@ NM_004369.3(COL6A3):c.11A>T (p.His4Leu) http://identifiers.org/clinvar/282449 ^@ NM_001130987.1(DYSF):c.3169C>T (p.Arg1057Trp) http://identifiers.org/clinvar/282450 ^@ NM_201383.2(PLEC):c.8709C>T (p.Ser2903=) http://identifiers.org/clinvar/282451 ^@ NM_003673.3(TCAP):c.97C>T (p.Arg33Trp) http://identifiers.org/clinvar/282452 ^@ NM_201384.2(PLEC):c.2388C>A (p.Pro796=) http://identifiers.org/clinvar/282453 ^@ NM_015295.2(SMCHD1):c.2507G>A (p.Arg836His) http://identifiers.org/clinvar/282454 ^@ NM_000023.3(SGCA):c.843C>A (p.Ala281=) http://identifiers.org/clinvar/282455 ^@ NM_201381.2(PLEC):c.5425G>A (p.Ala1809Thr) http://identifiers.org/clinvar/282456 ^@ NM_182961.3(SYNE1):c.24881A>G (p.Asp8294Gly) http://identifiers.org/clinvar/282457 ^@ NM_182914.2(SYNE2):c.12108+10T>C http://identifiers.org/clinvar/282458 ^@ NM_182914.2(SYNE2):c.16640A>G (p.Asp5547Gly) http://identifiers.org/clinvar/282459 ^@ NM_182961.3(SYNE1):c.9377C>G (p.Ser3126Cys) http://identifiers.org/clinvar/282460 ^@ NM_001267550.2(TTN):c.60452T>C (p.Ile20151Thr) http://identifiers.org/clinvar/282461 ^@ NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) http://identifiers.org/clinvar/282462 ^@ NM_182914.2(SYNE2):c.20509G>A (p.Glu6837Lys) http://identifiers.org/clinvar/282463 ^@ NM_001849.3(COL6A2):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/282464 ^@ NM_182914.2(SYNE2):c.15165A>G (p.Gln5055=) http://identifiers.org/clinvar/282465 ^@ NM_001267550.2(TTN):c.17326A>G (p.Ile5776Val) http://identifiers.org/clinvar/282466 ^@ NM_000445.4(PLEC):c.3091G>A (p.Val1031Met) http://identifiers.org/clinvar/282467 ^@ NM_004369.3(COL6A3):c.5010T>A (p.Tyr1670Ter) http://identifiers.org/clinvar/282468 ^@ NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn) http://identifiers.org/clinvar/282469 ^@ NM_004369.3(COL6A3):c.1322T>C (p.Val441Ala) http://identifiers.org/clinvar/282470 ^@ NM_001267550.2(TTN):c.48696A>G (p.Leu16232=) http://identifiers.org/clinvar/282471 ^@ NM_000155.3(GALT):c.1059+11A>G http://identifiers.org/clinvar/282472 ^@ NM_182914.2(SYNE2):c.18393C>T (p.Ile6131=) http://identifiers.org/clinvar/282473 ^@ NM_182961.3(SYNE1):c.11412C>T (p.Val3804=) http://identifiers.org/clinvar/282474 ^@ NM_033071.3(SYNE1):c.6570G>C (p.Glu2190Asp) http://identifiers.org/clinvar/282475 ^@ NM_001849.3(COL6A2):c.169G>A (p.Val57Ile) http://identifiers.org/clinvar/282476 ^@ NM_000070.2(CAPN3):c.884A>T (p.Asp295Val) http://identifiers.org/clinvar/282477 ^@ NM_182914.2(SYNE2):c.11379T>C (p.Leu3793=) http://identifiers.org/clinvar/282478 ^@ NM_001267550.2(TTN):c.44651A>G (p.Lys14884Arg) http://identifiers.org/clinvar/282479 ^@ NM_001267550.2(TTN):c.11337C>T (p.Ala3779=) http://identifiers.org/clinvar/282480 ^@ NM_001267550.2(TTN):c.71882T>C (p.Val23961Ala) http://identifiers.org/clinvar/282481 ^@ NM_033071.3(SYNE1):c.8849G>A (p.Cys2950Tyr) http://identifiers.org/clinvar/282482 ^@ NM_033071.3(SYNE1):c.18826G>A (p.Asp6276Asn) http://identifiers.org/clinvar/282483 ^@ NM_004369.3(COL6A3):c.7113C>T (p.Gly2371=) http://identifiers.org/clinvar/282484 ^@ NM_001848.2(COL6A1):c.1122C>T (p.Gly374=) http://identifiers.org/clinvar/282485 ^@ NM_001267550.2(TTN):c.8673C>G (p.Ile2891Met) http://identifiers.org/clinvar/282486 ^@ NM_000445.4(PLEC):c.10590G>A (p.Ala3530=) http://identifiers.org/clinvar/282487 ^@ NM_004006.2(DMD):c.1095A>C (p.Gln365His) http://identifiers.org/clinvar/282488 ^@ NM_001267550.2(TTN):c.92984C>A (p.Thr30995Asn) http://identifiers.org/clinvar/282489 ^@ NM_033071.3(SYNE1):c.3292C>T (p.Arg1098Trp) http://identifiers.org/clinvar/282490 ^@ NM_001848.2(COL6A1):c.556G>C (p.Val186Leu) http://identifiers.org/clinvar/282491 ^@ NM_001848.2(COL6A1):c.705C>T (p.Ile235=) http://identifiers.org/clinvar/282492 ^@ NM_012210.3(TRIM32):c.319C>T (p.Leu107=) http://identifiers.org/clinvar/282493 ^@ NM_201380.3(PLEC):c.5266G>A (p.Glu1756Lys) http://identifiers.org/clinvar/282494 ^@ NM_000070.2(CAPN3):c.1993-1G>A http://identifiers.org/clinvar/282495 ^@ NM_001267550.2(TTN):c.16205G>C (p.Arg5402Thr) http://identifiers.org/clinvar/282496 ^@ NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) http://identifiers.org/clinvar/282497 ^@ NM_213599.2(ANO5):c.259G>A (p.Val87Ile) http://identifiers.org/clinvar/282498 ^@ NM_004006.2(DMD):c.5076A>G (p.Thr1692=) http://identifiers.org/clinvar/282499 ^@ NM_201383.2(PLEC):c.3380C>T (p.Pro1127Leu) http://identifiers.org/clinvar/282500 ^@ NM_001256850.1(TTN):c.29358T>C (p.Phe9786=) http://identifiers.org/clinvar/282501 ^@ NM_015295.2(SMCHD1):c.5502C>G (p.Thr1834=) http://identifiers.org/clinvar/282502 ^@ NM_182914.2(SYNE2):c.12903C>T (p.Gly4301=) http://identifiers.org/clinvar/282503 ^@ NM_004006.2(DMD):c.-75G>A http://identifiers.org/clinvar/282504 ^@ NM_013382.5(POMT2):c.1743G>A (p.Gly581=) http://identifiers.org/clinvar/282505 ^@ NM_033071.3(SYNE1):c.17246A>G (p.Glu5749Gly) http://identifiers.org/clinvar/282506 ^@ NM_182914.2(SYNE2):c.18265G>A (p.Val6089Ile) http://identifiers.org/clinvar/282507 ^@ NM_001267550.2(TTN):c.66085C>T (p.Arg22029Cys) http://identifiers.org/clinvar/282508 ^@ NM_004369.3(COL6A3):c.3555C>T (p.Ala1185=) http://identifiers.org/clinvar/282509 ^@ NM_000445.4(PLEC):c.13323C>T (p.Arg4441=) http://identifiers.org/clinvar/282510 ^@ NM_182914.2(SYNE2):c.14088G>A (p.Gly4696=) http://identifiers.org/clinvar/282511 ^@ NM_000023.3(SGCA):c.929A>G (p.Tyr310Cys) http://identifiers.org/clinvar/282512 ^@ NM_000070.2(CAPN3):c.1505T>C (p.Ile502Thr) http://identifiers.org/clinvar/282513 ^@ NM_001130987.1(DYSF):c.4911+1G>T http://identifiers.org/clinvar/282514 ^@ NM_182914.2(SYNE2):c.3506G>A (p.Arg1169His) http://identifiers.org/clinvar/282515 ^@ NM_001267550.2(TTN):c.51883_51892delAAGCGTGCAG (p.Lys17295Hisfs) http://identifiers.org/clinvar/282516 ^@ NM_182914.2(SYNE2):c.3830G>A (p.Arg1277His) http://identifiers.org/clinvar/282517 ^@ NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly) http://identifiers.org/clinvar/282518 ^@ NM_001267550.2(TTN):c.15822A>T (p.Ala5274=) http://identifiers.org/clinvar/282519 ^@ NM_201383.2(PLEC):c.9162A>G (p.Pro3054=) http://identifiers.org/clinvar/282520 ^@ NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) http://identifiers.org/clinvar/282521 ^@ NM_058246.3(DNAJB6):c.479-10T>G http://identifiers.org/clinvar/282522 ^@ NM_182914.2(SYNE2):c.19501C>T (p.Pro6501Ser) http://identifiers.org/clinvar/282523 ^@ NM_213599.2(ANO5):c.1142A>G (p.Glu381Gly) http://identifiers.org/clinvar/282524 ^@ NM_001267550.2(TTN):c.43653T>C (p.His14551=) http://identifiers.org/clinvar/282525 ^@ NM_001849.3(COL6A2):c.1130G>A (p.Arg377His) http://identifiers.org/clinvar/282526 ^@ NM_001849.3(COL6A2):c.638G>A (p.Arg213His) http://identifiers.org/clinvar/282527 ^@ NM_133378.4(TTN):c.12556C>T (p.Arg4186Ter) http://identifiers.org/clinvar/282528 ^@ NM_182961.3(SYNE1):c.22362T>A (p.Phe7454Leu) http://identifiers.org/clinvar/282529 ^@ NM_001848.2(COL6A1):c.1254C>T (p.Asp418=) http://identifiers.org/clinvar/282530 ^@ NM_015295.2(SMCHD1):c.3801+1G>A http://identifiers.org/clinvar/282531 ^@ NM_033071.3(SYNE1):c.13696G>A (p.Asp4566Asn) http://identifiers.org/clinvar/282532 ^@ NM_004006.2(DMD):c.7722G>C (p.Gln2574His) http://identifiers.org/clinvar/282533 ^@ NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) http://identifiers.org/clinvar/282534 ^@ NM_182914.2(SYNE2):c.3889A>G (p.Met1297Val) http://identifiers.org/clinvar/282535 ^@ NM_001165928.3(DAG1):c.717G>A (p.Ser239=) http://identifiers.org/clinvar/282536 ^@ NM_000070.2(CAPN3):c.2036_2037delCA (p.Thr679Serfs) http://identifiers.org/clinvar/282537 ^@ NM_001267550.2(TTN):c.59093A>C (p.Asp19698Ala) http://identifiers.org/clinvar/282538 ^@ NM_201383.2(PLEC):c.10314C>A (p.Thr3438=) http://identifiers.org/clinvar/282539 ^@ NM_001267550.2(TTN):c.91909A>T (p.Met30637Leu) http://identifiers.org/clinvar/282540 ^@ NM_058246.3(DNAJB6):c.947C>G (p.Ser316Trp) http://identifiers.org/clinvar/282541 ^@ NM_058246.3(DNAJB6):c.230G>T (p.Gly77Val) http://identifiers.org/clinvar/282542 ^@ NM_201382.3(PLEC):c.3513C>T (p.Asp1171=) http://identifiers.org/clinvar/282543 ^@ NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr) http://identifiers.org/clinvar/282544 ^@ NM_182914.2(SYNE2):c.12239G>A (p.Arg4080Lys) http://identifiers.org/clinvar/282545 ^@ NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala) http://identifiers.org/clinvar/282546 ^@ NM_005476.5(GNE):c.1281+6A>T http://identifiers.org/clinvar/282547 ^@ NM_001298.2(CNGA3):c.1597G>C (p.Asp533His) http://identifiers.org/clinvar/282548 ^@ NM_006432.3(NPC2):c.450T>C (p.His150=) http://identifiers.org/clinvar/282549 ^@ NM_024408.3(NOTCH2):c.6362A>G (p.Lys2121Arg) http://identifiers.org/clinvar/282550 ^@ NM_000392.4(ABCC2):c.3614+6G>C http://identifiers.org/clinvar/282551 ^@ NM_138694.3(PKHD1):c.445C>T (p.Pro149Ser) http://identifiers.org/clinvar/282552 ^@ NM_020717.3(SHROOM4):c.547C>G (p.Pro183Ala) http://identifiers.org/clinvar/282553 ^@ NM_033071.3(SYNE1):c.21721C>T (p.Gln7241Ter) http://identifiers.org/clinvar/282554 ^@ NM_032119.3(ADGRV1):c.8292G>A (p.Ser2764=) http://identifiers.org/clinvar/282555 ^@ NM_014795.3(ZEB2):c.403+9T>C http://identifiers.org/clinvar/282556 ^@ NM_198903.2(GABRG2):c.811G>A (p.Asp271Asn) http://identifiers.org/clinvar/282557 ^@ NM_198859.3(PRICKLE2):c.758A>T (p.Glu253Val) http://identifiers.org/clinvar/282558 ^@ NM_018451.4(CENPJ):c.3019C>T (p.Arg1007Trp) http://identifiers.org/clinvar/282559 ^@ NM_004380.2(CREBBP):c.4628A>G (p.Asp1543Gly) http://identifiers.org/clinvar/282560 ^@ NM_003688.3(CASK):c.2282G>A (p.Arg761Gln) http://identifiers.org/clinvar/282561 ^@ NM_017780.3(CHD7):c.4877C>T (p.Ser1626Phe) http://identifiers.org/clinvar/282562 ^@ NM_001034852.2(SMOC1):c.230C>T (p.Pro77Leu) http://identifiers.org/clinvar/282563 ^@ NM_144966.5(FREM1):c.3857T>G (p.Met1286Arg) http://identifiers.org/clinvar/282564 ^@ NM_000104.3(CYP1B1):c.1064_1076delGAGTGCAGGCAGA (p.Arg355Hisfs) http://identifiers.org/clinvar/282565 ^@ NM_014639.3(TTC37):c.4344A>G (p.Leu1448=) http://identifiers.org/clinvar/282566 ^@ NM_024747.5(HPS6):c.337C>T (p.Arg113Trp) http://identifiers.org/clinvar/282567 ^@ NM_014639.3(TTC37):c.1848A>G (p.Thr616=) http://identifiers.org/clinvar/282568 ^@ NM_020661.3(AICDA):c.48A>G (p.Lys16=) http://identifiers.org/clinvar/282569 ^@ NM_012092.3(ICOS):c.105C>T (p.Asn35=) http://identifiers.org/clinvar/282570 ^@ NM_000784.3(CYP27A1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/282571 ^@ NM_003742.2(ABCB11):c.1248C>A (p.Ile416=) http://identifiers.org/clinvar/282572 ^@ NM_000543.4(SMPD1):c.657_659dupGGA (p.Thr219_Asp220insGlu) http://identifiers.org/clinvar/282573 ^@ NM_000271.4(NPC1):c.2712G>T (p.Gly904=) http://identifiers.org/clinvar/282574 ^@ NM_001004334.3(GPR179):c.3568C>T (p.Arg1190Trp) http://identifiers.org/clinvar/282575 ^@ NM_002420.5(TRPM1):c.1820G>A (p.Arg607Gln) http://identifiers.org/clinvar/282576 ^@ NM_005603.4(ATP8B1):c.1498T>C (p.Tyr500His) http://identifiers.org/clinvar/282577 ^@ NM_015102.4(NPHP4):c.3960C>T (p.Leu1320=) http://identifiers.org/clinvar/282578 ^@ NM_203447.3(DOCK8):c.2749G>A (p.Glu917Lys) http://identifiers.org/clinvar/282579 ^@ NM_001040142.1(SCN2A):c.5752C>T (p.Arg1918Cys) http://identifiers.org/clinvar/282580 ^@ NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) http://identifiers.org/clinvar/282581 ^@ NM_014140.3(SMARCAL1):c.527C>G (p.Thr176Arg) http://identifiers.org/clinvar/282582 ^@ NM_000445.4(PLEC):c.9375C>T (p.Ala3125=) http://identifiers.org/clinvar/282583 ^@ NM_005609.3(PYGM):c.1918C>T (p.Arg640Cys) http://identifiers.org/clinvar/282584 ^@ NM_005609.3(PYGM):c.1143G>A (p.Leu381=) http://identifiers.org/clinvar/282585 ^@ NM_178138.5(LHX3):c.198C>G (p.Ala66=) http://identifiers.org/clinvar/282586 ^@ NM_001429.3(EP300):c.1573C>T (p.Pro525Ser) http://identifiers.org/clinvar/282587 ^@ NM_004380.2(CREBBP):c.5747T>C (p.Met1916Thr) http://identifiers.org/clinvar/282588 ^@ NM_017780.3(CHD7):c.3241A>G (p.Ile1081Val) http://identifiers.org/clinvar/282589 ^@ NM_004560.3(ROR2):c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) http://identifiers.org/clinvar/282590 ^@ NM_004380.2(CREBBP):c.2028A>G (p.Gln676=) http://identifiers.org/clinvar/282591 ^@ NM_005633.3(SOS1):c.39A>G (p.Glu13=) http://identifiers.org/clinvar/282592 ^@ NM_138735.4(NRXN1):c.79_80insGCG (p.Gly26_Ala27insGly) http://identifiers.org/clinvar/282593 ^@ NM_006920.4(SCN1A):c.2626G>A (p.Val876Met) http://identifiers.org/clinvar/282594 ^@ NM_004380.2(CREBBP):c.2977C>T (p.Pro993Ser) http://identifiers.org/clinvar/282595 ^@ NM_133379.4(TTN):c.9169C>A (p.His3057Asn) http://identifiers.org/clinvar/282596 ^@ NM_213599.2(ANO5):c.1243G>A (p.Val415Met) http://identifiers.org/clinvar/282597 ^@ NM_001267550.2(TTN):c.7815C>A (p.Tyr2605Ter) http://identifiers.org/clinvar/282598 ^@ NM_004006.2(DMD):c.146G>A (p.Arg49His) http://identifiers.org/clinvar/282599 ^@ NM_133379.4(TTN):c.3874G>T (p.Gly1292Ter) http://identifiers.org/clinvar/282600 ^@ NM_000088.3(COL1A1):c.472-1G>C http://identifiers.org/clinvar/282601 ^@ NM_003179.2(SYP):c.593C>T (p.Thr198Ile) http://identifiers.org/clinvar/282602 ^@ NM_016219.4(MAN1B1):c.1789C>T (p.Arg597Trp) http://identifiers.org/clinvar/282603 ^@ NM_016592.3(GNAS):c.477_514del38 (p.Thr160Argfs) http://identifiers.org/clinvar/282604 ^@ NM_020822.2(KCNT1):c.2957_2958insT (p.Tyr987Leufs) http://identifiers.org/clinvar/282605 ^@ NM_015548.4(DST):c.22delT (p.Tyr8Thrfs) http://identifiers.org/clinvar/282606 ^@ NM_020919.3(ALS2):c.4119A>G (p.Ile1373Met) http://identifiers.org/clinvar/282607 ^@ NM_004082.4(DCTN1):c.414+1G>A http://identifiers.org/clinvar/282608 ^@ NM_006580.3(CLDN16):c.166delG (p.Ala56Leufs) http://identifiers.org/clinvar/282609 ^@ NM_144991.2(TSPEAR):c.1373G>A (p.Trp458Ter) http://identifiers.org/clinvar/282610 ^@ NM_005881.3(BCKDK):c.466C>G (p.Arg156Gly) http://identifiers.org/clinvar/282611 ^@ NM_005660.2(SLC35A2):c.826C>T (p.Leu276Phe) http://identifiers.org/clinvar/282612 ^@ NM_002290.4(LAMA4):c.2819dupT (p.Leu940Phefs) http://identifiers.org/clinvar/282613 ^@ NM_001017979.2(RAB28):c.551_552delAA (p.Lys184Serfs) http://identifiers.org/clinvar/282614 ^@ NM_004006.2(DMD):c.2316_2317delGA (p.Lys773Valfs) http://identifiers.org/clinvar/282615 ^@ NM_001849.3(COL6A2):c.1750C>T (p.Pro584Ser) http://identifiers.org/clinvar/282616 ^@ NM_001267550.2(TTN):c.30683-6_30683-3delTTTT http://identifiers.org/clinvar/282617 ^@ NM_000070.2(CAPN3):c.1611C>A (p.Tyr537Ter) http://identifiers.org/clinvar/282618 ^@ NM_182914.2(SYNE2):c.9252C>T (p.Ala3084=) http://identifiers.org/clinvar/282619 ^@ NM_182914.2(SYNE2):c.4785C>A (p.Asn1595Lys) http://identifiers.org/clinvar/282620 ^@ NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) http://identifiers.org/clinvar/282621 ^@ NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) http://identifiers.org/clinvar/282622 ^@ NM_012210.3(TRIM32):c.1199G>A (p.Arg400His) http://identifiers.org/clinvar/282623 ^@ NM_000070.2(CAPN3):c.700G>A (p.Gly234Arg) http://identifiers.org/clinvar/282624 ^@ NM_001130987.1(DYSF):c.5420G>A (p.Arg1807Gln) http://identifiers.org/clinvar/282625 ^@ NM_201380.3(PLEC):c.4818C>T (p.Gly1606=) http://identifiers.org/clinvar/282626 ^@ NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu) http://identifiers.org/clinvar/282627 ^@ NM_182961.3(SYNE1):c.19893+5A>G http://identifiers.org/clinvar/282628 ^@ NM_001267550.2(TTN):c.70754delT (p.Val23585Glyfs) http://identifiers.org/clinvar/282629 ^@ NM_001267550.2(TTN):c.96997C>T (p.Arg32333Cys) http://identifiers.org/clinvar/282630 ^@ NM_012470.3(TNPO3):c.2652C>T (p.Thr884=) http://identifiers.org/clinvar/282631 ^@ NM_001267550.2(TTN):c.2743C>T (p.Arg915Cys) http://identifiers.org/clinvar/282632 ^@ NM_201379.2(PLEC):c.1197+10_1197+11insCGGTGAGGCAGCAGTCG http://identifiers.org/clinvar/282633 ^@ NM_000152.4(GAA):c.705G>A (p.Thr235=) http://identifiers.org/clinvar/282634 ^@ NM_182961.3(SYNE1):c.20690C>T (p.Ala6897Val) http://identifiers.org/clinvar/282635 ^@ NM_213599.2(ANO5):c.2235+1G>A http://identifiers.org/clinvar/282636 ^@ NM_033071.3(SYNE1):c.1412A>G (p.His471Arg) http://identifiers.org/clinvar/282637 ^@ NM_000070.2(CAPN3):c.1588T>C (p.Ser530Pro) http://identifiers.org/clinvar/282638 ^@ NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) http://identifiers.org/clinvar/282639 ^@ NM_201381.2(PLEC):c.8416_8418delGAG (p.Glu2806del) http://identifiers.org/clinvar/282640 ^@ NM_000445.4(PLEC):c.11368_11369delTC (p.Ser3790Glyfs) http://identifiers.org/clinvar/282641 ^@ NM_001267550.2(TTN):c.39262A>T (p.Ile13088Phe) http://identifiers.org/clinvar/282642 ^@ NM_000152.4(GAA):c.2122C>T (p.His708Tyr) http://identifiers.org/clinvar/282643 ^@ NM_001267550.2(TTN):c.39261T>A (p.Ala13087=) http://identifiers.org/clinvar/282644 ^@ NM_001101426.3(ISPD):c.307G>A (p.Glu103Lys) http://identifiers.org/clinvar/282645 ^@ NM_004369.3(COL6A3):c.6654G>A (p.Pro2218=) http://identifiers.org/clinvar/282646 ^@ NM_000070.2(CAPN3):c.865C>T (p.Arg289Trp) http://identifiers.org/clinvar/282647 ^@ NM_033071.3(SYNE1):c.19714T>C (p.Leu6572=) http://identifiers.org/clinvar/282648 ^@ NM_001101426.3(ISPD):c.1120-4G>A http://identifiers.org/clinvar/282649 ^@ NM_001235.3(SERPINH1):c.961delC (p.Leu321Trpfs) http://identifiers.org/clinvar/282650 ^@ NM_021939.3(FKBP10):c.315C>T (p.Gly105=) http://identifiers.org/clinvar/282651 ^@ NM_001127899.3(CLCN5):c.2321G>A (p.Arg774Gln) http://identifiers.org/clinvar/282652 ^@ NM_004369.3(COL6A3):c.4124delA (p.Gln1375Argfs) http://identifiers.org/clinvar/282653 ^@ NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) http://identifiers.org/clinvar/282654 ^@ NM_004369.3(COL6A3):c.9418T>G (p.Phe3140Val) http://identifiers.org/clinvar/282655 ^@ NM_133378.4(TTN):c.64409C>T (p.Thr21470Met) http://identifiers.org/clinvar/282656 ^@ NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser) http://identifiers.org/clinvar/282657 ^@ NM_001267550.2(TTN):c.41018C>T (p.Pro13673Leu) http://identifiers.org/clinvar/282658 ^@ NM_015295.2(SMCHD1):c.3841A>G (p.Ile1281Val) http://identifiers.org/clinvar/282659 ^@ NM_001128227.2(GNE):c.1352G>A (p.Arg451Gln) http://identifiers.org/clinvar/282660 ^@ NM_001848.2(COL6A1):c.996C>T (p.Gly332=) http://identifiers.org/clinvar/282661 ^@ NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) http://identifiers.org/clinvar/282662 ^@ NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) http://identifiers.org/clinvar/282663 ^@ NM_015295.2(SMCHD1):c.3251C>T (p.Thr1084Ile) http://identifiers.org/clinvar/282664 ^@ NM_182914.2(SYNE2):c.9347A>G (p.Lys3116Arg) http://identifiers.org/clinvar/282665 ^@ NM_033071.3(SYNE1):c.26068C>T (p.Arg8690Cys) http://identifiers.org/clinvar/282666 ^@ NM_001267550.2(TTN):c.43905A>C (p.Ala14635=) http://identifiers.org/clinvar/282667 ^@ NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys) http://identifiers.org/clinvar/282668 ^@ NM_182914.2(SYNE2):c.16961A>G (p.Gln5654Arg) http://identifiers.org/clinvar/282669 ^@ NM_182914.2(SYNE2):c.18387G>A (p.Met6129Ile) http://identifiers.org/clinvar/282670 ^@ NM_001130987.1(DYSF):c.6173G>T (p.Arg2058Met) http://identifiers.org/clinvar/282671 ^@ NM_182914.2(SYNE2):c.14465T>A (p.Leu4822Gln) http://identifiers.org/clinvar/282672 ^@ NM_201380.3(PLEC):c.9055C>T (p.Leu3019=) http://identifiers.org/clinvar/282673 ^@ NM_004369.3(COL6A3):c.2261A>G (p.Gln754Arg) http://identifiers.org/clinvar/282674 ^@ NM_004369.3(COL6A3):c.759C>T (p.Thr253=) http://identifiers.org/clinvar/282675 ^@ NM_001165928.3(DAG1):c.2141G>T (p.Arg714Leu) http://identifiers.org/clinvar/282676 ^@ NM_001267550.2(TTN):c.2573C>G (p.Ser858Trp) http://identifiers.org/clinvar/282677 ^@ NM_000070.2(CAPN3):c.1621C>G (p.Arg541Gly) http://identifiers.org/clinvar/282678 ^@ NM_001449.4(FHL1):c.356G>T (p.Gly119Val) http://identifiers.org/clinvar/282679 ^@ NM_000070.2(CAPN3):c.1678A>G (p.Thr560Ala) http://identifiers.org/clinvar/282680 ^@ NM_001849.3(COL6A2):c.1395+6G>A http://identifiers.org/clinvar/282681 ^@ NM_000070.2(CAPN3):c.2288A>G (p.Tyr763Cys) http://identifiers.org/clinvar/282682 ^@ NM_182961.3(SYNE1):c.11506C>G (p.Gln3836Glu) http://identifiers.org/clinvar/282683 ^@ NM_004369.3(COL6A3):c.1975C>T (p.Arg659Cys) http://identifiers.org/clinvar/282684 ^@ NM_006657.2(FTCD):c.906+15C>T http://identifiers.org/clinvar/282685 ^@ NM_000194.2(HPRT1):c.485G>T (p.Ser162Ile) http://identifiers.org/clinvar/282686 ^@ NM_213599.2(ANO5):c.2610A>G (p.Leu870=) http://identifiers.org/clinvar/282687 ^@ NM_001163213.1(FGFR3):c.272C>T (p.Pro91Leu) http://identifiers.org/clinvar/282688 ^@ NM_014140.3(SMARCAL1):c.2340C>T (p.Ala780=) http://identifiers.org/clinvar/282689 ^@ NM_001024630.3(RUNX2):c.531C>G (p.Asn177Lys) http://identifiers.org/clinvar/282690 ^@ NM_023110.2(FGFR1):c.1978-8delG http://identifiers.org/clinvar/282691 ^@ NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) http://identifiers.org/clinvar/282692 ^@ NM_000088.3(COL1A1):c.277C>A (p.Pro93Thr) http://identifiers.org/clinvar/282693 ^@ NM_001199397.1(NEK1):c.2361G>A (p.Lys787=) http://identifiers.org/clinvar/282694 ^@ NM_000193.3(SHH):c.1040C>G (p.Pro347Arg) http://identifiers.org/clinvar/282695 ^@ NM_006657.2(FTCD):c.274C>T (p.Pro92Ser) http://identifiers.org/clinvar/282696 ^@ NM_006657.2(FTCD):c.430G>A (p.Gly144Arg) http://identifiers.org/clinvar/282697 ^@ NM_006657.2(FTCD):c.452A>T (p.Lys151Met) http://identifiers.org/clinvar/282698 ^@ NM_033071.3(SYNE1):c.23046C>T (p.Arg7682=) http://identifiers.org/clinvar/282699 ^@ NM_003494.3(DYSF):c.4443C>T (p.Phe1481=) http://identifiers.org/clinvar/282700 ^@ NM_007171.3(POMT1):c.1036G>A (p.Asp346Asn) http://identifiers.org/clinvar/282701 ^@ NM_033071.3(SYNE1):c.17860G>A (p.Ala5954Thr) http://identifiers.org/clinvar/282702 ^@ NM_001267550.2(TTN):c.30376A>G (p.Arg10126Gly) http://identifiers.org/clinvar/282703 ^@ NM_001130987.1(DYSF):c.978A>T (p.Thr326=) http://identifiers.org/clinvar/282704 ^@ NM_201383.2(PLEC):c.8605C>G (p.Leu2869Val) http://identifiers.org/clinvar/282705 ^@ NM_001130987.1(DYSF):c.3409G>A (p.Val1137Met) http://identifiers.org/clinvar/282706 ^@ NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met) http://identifiers.org/clinvar/282707 ^@ NM_000118.3(ENG):c.1711C>T (p.Arg571Cys) http://identifiers.org/clinvar/282708 ^@ NM_198576.3(AGRN):c.4869C>A (p.Phe1623Leu) http://identifiers.org/clinvar/282709 ^@ NM_015243.2(VPS13B):c.1981G>A (p.Asp661Asn) http://identifiers.org/clinvar/282710 ^@ NM_080680.2(COL11A2):c.4854C>G (p.Asp1618Glu) http://identifiers.org/clinvar/282711 ^@ NM_000557.4(GDF5):c.158delT (p.Leu53Argfs) http://identifiers.org/clinvar/282712 ^@ NM_005710.2(PQBP1):c.492G>T (p.Gly164=) http://identifiers.org/clinvar/282713 ^@ NM_032890.3(DISP1):c.3992A>C (p.His1331Pro) http://identifiers.org/clinvar/282714 ^@ NM_006086.3(TUBB3):c.357G>A (p.Val119=) http://identifiers.org/clinvar/282715 ^@ NM_024408.3(NOTCH2):c.1681+9C>A http://identifiers.org/clinvar/282716 ^@ NM_001080522.2(CC2D2A):c.388C>T (p.Arg130Cys) http://identifiers.org/clinvar/282717 ^@ NM_000235.3(LIPA):c.1128C>T (p.Asp376=) http://identifiers.org/clinvar/282718 ^@ NM_000466.2(PEX1):c.3503A>G (p.Asp1168Gly) http://identifiers.org/clinvar/282719 ^@ NM_001035.2(RYR2):c.8831-9A>C http://identifiers.org/clinvar/282720 ^@ NM_005609.3(PYGM):c.352C>T (p.Leu118=) http://identifiers.org/clinvar/282721 ^@ NM_201384.2(PLEC):c.12494A>G (p.His4165Arg) http://identifiers.org/clinvar/282722 ^@ NM_033071.3(SYNE1):c.8251C>A (p.Gln2751Lys) http://identifiers.org/clinvar/282723 ^@ NM_020631.4(PLEKHG5):c.1371C>T (p.Asp457=) http://identifiers.org/clinvar/282724 ^@ NM_201383.2(PLEC):c.5645G>A (p.Arg1882Gln) http://identifiers.org/clinvar/282725 ^@ NM_001077525.2(MTMR14):c.780T>A (p.Asp260Glu) http://identifiers.org/clinvar/282726 ^@ NM_000540.2(RYR1):c.13690C>T (p.Arg4564Trp) http://identifiers.org/clinvar/282727 ^@ NM_182961.3(SYNE1):c.6291T>C (p.Ala2097=) http://identifiers.org/clinvar/282728 ^@ NM_207346.2(TSEN54):c.468+8C>T http://identifiers.org/clinvar/282729 ^@ NM_001909.4(CTSD):c.1009G>A (p.Ala337Thr) http://identifiers.org/clinvar/282730 ^@ NM_018136.4(ASPM):c.581C>A (p.Ala194Asp) http://identifiers.org/clinvar/282731 ^@ NM_003896.3(ST3GAL5):c.465G>A (p.Glu155=) http://identifiers.org/clinvar/282732 ^@ NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) http://identifiers.org/clinvar/282733 ^@ NM_032119.3(ADGRV1):c.2576T>C (p.Val859Ala) http://identifiers.org/clinvar/282734 ^@ NM_001037.4(SCN1B):c.273G>A (p.Val91=) http://identifiers.org/clinvar/282735 ^@ NM_001127221.1(CACNA1A):c.6260G>T (p.Gly2087Val) http://identifiers.org/clinvar/282736 ^@ NM_001014797.2(KCNMA1):c.1305C>T (p.Asp435=) http://identifiers.org/clinvar/282737 ^@ NM_001135659.2(NRXN1):c.252G>A (p.Thr84=) http://identifiers.org/clinvar/282738 ^@ NM_005270.4(GLI2):c.2554G>A (p.Ala852Thr) http://identifiers.org/clinvar/282739 ^@ NM_032119.3(ADGRV1):c.1411G>C (p.Val471Leu) http://identifiers.org/clinvar/282740 ^@ NM_007254.3(PNKP):c.499-5A>G http://identifiers.org/clinvar/282741 ^@ NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) http://identifiers.org/clinvar/282742 ^@ NM_025114.3(CEP290):c.3240T>C (p.Tyr1080=) http://identifiers.org/clinvar/282743 ^@ NM_032119.3(ADGRV1):c.5264C>T (p.Ala1755Val) http://identifiers.org/clinvar/282744 ^@ NM_022455.4(NSD1):c.7632C>T (p.Ala2544=) http://identifiers.org/clinvar/282745 ^@ NM_022455.4(NSD1):c.8048A>G (p.Gln2683Arg) http://identifiers.org/clinvar/282746 ^@ NM_022124.5(CDH23):c.5647A>C (p.Asn1883His) http://identifiers.org/clinvar/282747 ^@ NM_016239.3(MYO15A):c.5315C>T (p.Ala1772Val) http://identifiers.org/clinvar/282748 ^@ NM_144612.6(LOXHD1):c.5328G>A (p.Glu1776=) http://identifiers.org/clinvar/282749 ^@ NM_172107.3(KCNQ2):c.1209C>T (p.Leu403=) http://identifiers.org/clinvar/282750 ^@ NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) http://identifiers.org/clinvar/282751 ^@ NM_174963.3(ST3GAL3):c.993G>A (p.Val331=) http://identifiers.org/clinvar/282752 ^@ NM_005045.3(RELN):c.5211-9_5211-7delTTT http://identifiers.org/clinvar/282753 ^@ NM_001844.4(COL2A1):c.3842G>A (p.Arg1281His) http://identifiers.org/clinvar/282754 ^@ NM_201383.2(PLEC):c.11600G>A (p.Arg3867Gln) http://identifiers.org/clinvar/282755 ^@ NM_001458.4(FLNC):c.7382G>A (p.Ser2461Asn) http://identifiers.org/clinvar/282756 ^@ NM_001267550.2(TTN):c.6092T>C (p.Leu2031Pro) http://identifiers.org/clinvar/282757 ^@ NM_001499.2(GLE1):c.433-12_433-10delAAA http://identifiers.org/clinvar/282758 ^@ NM_000195.4(HPS1):c.1067A>C (p.Asn356Thr) http://identifiers.org/clinvar/282759 ^@ NM_002968.2(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) http://identifiers.org/clinvar/282760 ^@ NM_004560.3(ROR2):c.1670C>T (p.Ser557Leu) http://identifiers.org/clinvar/282761 ^@ NM_138694.3(PKHD1):c.3373A>C (p.Thr1125Pro) http://identifiers.org/clinvar/282762 ^@ NM_002618.3(PEX13):c.141A>G (p.Ala47=) http://identifiers.org/clinvar/282763 ^@ NM_015102.4(NPHP4):c.1622C>T (p.Pro541Leu) http://identifiers.org/clinvar/282764 ^@ NM_025193.3(HSD3B7):c.695-6C>T http://identifiers.org/clinvar/282765 ^@ NM_003494.3(DYSF):c.2948A>C (p.Lys983Thr) http://identifiers.org/clinvar/282766 ^@ NM_016381.5(TREX1):c.309dupC (p.Thr104Hisfs) http://identifiers.org/clinvar/282767 ^@ NM_016381.5(TREX1):c.317_318delAG (p.Gln106Argfs) http://identifiers.org/clinvar/282768 ^@ NM_000088.3(COL1A1):c.896delG (p.Gly299Valfs) http://identifiers.org/clinvar/282769 ^@ NM_033071.3(SYNE1):c.24286A>G (p.Ile8096Val) http://identifiers.org/clinvar/282770 ^@ NM_001267550.2(TTN):c.73102G>T (p.Asp24368Tyr) http://identifiers.org/clinvar/282771 ^@ NM_001130987.1(DYSF):c.2409+1G>A http://identifiers.org/clinvar/282772 ^@ NM_170707.3(LMNA):c.192C>T (p.Thr64=) http://identifiers.org/clinvar/282773 ^@ NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) http://identifiers.org/clinvar/282774 ^@ NM_004369.3(COL6A3):c.3902G>A (p.Arg1301Gln) http://identifiers.org/clinvar/282775 ^@ NM_033071.3(SYNE1):c.9736C>G (p.Gln3246Glu) http://identifiers.org/clinvar/282776 ^@ NM_001165928.3(DAG1):c.185C>T (p.Pro62Leu) http://identifiers.org/clinvar/282777 ^@ NM_001267550.2(TTN):c.51100G>A (p.Gly17034Ser) http://identifiers.org/clinvar/282778 ^@ NM_000445.4(PLEC):c.1326C>G (p.Ala442=) http://identifiers.org/clinvar/282779 ^@ NM_000070.2(CAPN3):c.1073A>G (p.Asn358Ser) http://identifiers.org/clinvar/282780 ^@ NM_201382.3(PLEC):c.4351G>A (p.Glu1451Lys) http://identifiers.org/clinvar/282781 ^@ NM_000445.4(PLEC):c.10824C>T (p.Gly3608=) http://identifiers.org/clinvar/282782 ^@ NM_000301.3(PLG):c.185+1G>T http://identifiers.org/clinvar/282783 ^@ NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) http://identifiers.org/clinvar/282784 ^@ NM_000070.2(CAPN3):c.1914+10C>T http://identifiers.org/clinvar/282785 ^@ NM_004006.2(DMD):c.960+7C>G http://identifiers.org/clinvar/282786 ^@ NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) http://identifiers.org/clinvar/282787 ^@ NM_182961.3(SYNE1):c.14722A>C (p.Ser4908Arg) http://identifiers.org/clinvar/282788 ^@ NM_033071.3(SYNE1):c.19122A>C (p.Pro6374=) http://identifiers.org/clinvar/282789 ^@ NM_004369.3(COL6A3):c.5839-3C>T http://identifiers.org/clinvar/282790 ^@ NM_006950.3(SYN1):c.377G>A (p.Trp126Ter) http://identifiers.org/clinvar/282791 ^@ NM_000784.3(CYP27A1):c.1471G>T (p.Ala491Ser) http://identifiers.org/clinvar/282793 ^@ NM_001267550.2(TTN):c.63089C>A (p.Pro21030Gln) http://identifiers.org/clinvar/282794 ^@ NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) http://identifiers.org/clinvar/282795 ^@ NM_020436.4(SALL4):c.1104G>A (p.Ala368=) http://identifiers.org/clinvar/282796 ^@ NM_001879.5(MASP1):c.904C>T (p.Pro302Ser) http://identifiers.org/clinvar/282797 ^@ NM_000540.2(RYR1):c.2635G>A (p.Glu879Lys) http://identifiers.org/clinvar/282798 ^@ NM_025152.2(NUBPL):c.77G>T (p.Gly26Val) http://identifiers.org/clinvar/282799 ^@ NM_015311.2(OBSL1):c.342C>T (p.Ala114=) http://identifiers.org/clinvar/282800 ^@ NM_000168.5(GLI3):c.2652C>T (p.Gly884=) http://identifiers.org/clinvar/282801 ^@ NM_000127.2(EXT1):c.609C>T (p.Tyr203=) http://identifiers.org/clinvar/282802 ^@ NM_014714.3(IFT140):c.497T>C (p.Leu166Pro) http://identifiers.org/clinvar/282803 ^@ NM_152860.1(SP7):c.1272G>A (p.Glu424=) http://identifiers.org/clinvar/282804 ^@ NM_003839.3(TNFRSF11A):c.450G>A (p.Val150=) http://identifiers.org/clinvar/282805 ^@ NM_001852.3(COL9A2):c.919G>A (p.Gly307Ser) http://identifiers.org/clinvar/282806 ^@ NM_057174.2(PEX16):c.877C>T (p.Arg293Cys) http://identifiers.org/clinvar/282807 ^@ NM_000240.3(MAOA):c.1248G>A (p.Met416Ile) http://identifiers.org/clinvar/282808 ^@ NM_015185.2(ARHGEF9):c.1091G>T (p.Gly364Val) http://identifiers.org/clinvar/282809 ^@ NM_000466.2(PEX1):c.2842C>T (p.Arg948Trp) http://identifiers.org/clinvar/282810 ^@ NM_014251.2(SLC25A13):c.1364G>A (p.Arg455His) http://identifiers.org/clinvar/282811 ^@ NM_003742.2(ABCB11):c.239T>C (p.Leu80Pro) http://identifiers.org/clinvar/282812 ^@ NM_004369.3(COL6A3):c.5113G>A (p.Ala1705Thr) http://identifiers.org/clinvar/282813 ^@ NM_000445.4(PLEC):c.11454C>T (p.Ile3818=) http://identifiers.org/clinvar/282814 ^@ NM_001101426.3(ISPD):c.161G>T (p.Gly54Val) http://identifiers.org/clinvar/282815 ^@ NM_001101426.3(ISPD):c.193C>T (p.Pro65Ser) http://identifiers.org/clinvar/282816 ^@ NM_182914.2(SYNE2):c.19323C>T (p.Ser6441=) http://identifiers.org/clinvar/282817 ^@ NM_201378.3(PLEC):c.13443C>T (p.Thr4481=) http://identifiers.org/clinvar/282818 ^@ NM_001130987.1(DYSF):c.1167C>T (p.Pro389=) http://identifiers.org/clinvar/282819 ^@ NM_005572.3(LMNA):c.100G>A (p.Asp34Asn) http://identifiers.org/clinvar/282820 ^@ NM_001130987.1(DYSF):c.5056C>G (p.Leu1686Val) http://identifiers.org/clinvar/282821 ^@ NM_201384.2(PLEC):c.10458C>T (p.Asp3486=) http://identifiers.org/clinvar/282822 ^@ NM_000445.4(PLEC):c.1348G>A (p.Val450Ile) http://identifiers.org/clinvar/282823 ^@ NM_004006.2(DMD):c.4941G>A (p.Thr1647=) http://identifiers.org/clinvar/282824 ^@ NM_024301.4(FKRP):c.586G>C (p.Gly196Arg) http://identifiers.org/clinvar/282825 ^@ NM_001130987.1(DYSF):c.5306T>C (p.Ile1769Thr) http://identifiers.org/clinvar/282826 ^@ NM_201380.3(PLEC):c.4899C>T (p.Ala1633=) http://identifiers.org/clinvar/282827 ^@ NM_000070.2(CAPN3):c.2310C>T (p.Tyr770=) http://identifiers.org/clinvar/282828 ^@ NM_000445.4(PLEC):c.11395C>T (p.Arg3799Cys) http://identifiers.org/clinvar/282829 ^@ NM_017739.3(POMGNT1):c.208G>A (p.Glu70Lys) http://identifiers.org/clinvar/282830 ^@ NM_001267550.2(TTN):c.93182G>C (p.Arg31061Pro) http://identifiers.org/clinvar/282831 ^@ NM_001267550.2(TTN):c.21829A>G (p.Asn7277Asp) http://identifiers.org/clinvar/282832 ^@ NM_201384.2(PLEC):c.540C>T (p.Cys180=) http://identifiers.org/clinvar/282833 ^@ NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) http://identifiers.org/clinvar/282834 ^@ NM_001267550.2(TTN):c.80592A>G (p.Pro26864=) http://identifiers.org/clinvar/282835 ^@ NM_182914.2(SYNE2):c.169C>T (p.Leu57=) http://identifiers.org/clinvar/282836 ^@ NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) http://identifiers.org/clinvar/282837 ^@ NM_182914.2(SYNE2):c.2890A>G (p.Lys964Glu) http://identifiers.org/clinvar/282838 ^@ NM_004369.3(COL6A3):c.9117G>A (p.Thr3039=) http://identifiers.org/clinvar/282839 ^@ NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) http://identifiers.org/clinvar/282840 ^@ NM_000445.4(PLEC):c.3530G>A (p.Arg1177Gln) http://identifiers.org/clinvar/282841 ^@ NM_004006.2(DMD):c.10477C>T (p.Gln3493Ter) http://identifiers.org/clinvar/282842 ^@ NM_000152.4(GAA):c.258dupC (p.Asn87Glnfs) http://identifiers.org/clinvar/282843 ^@ NM_213599.2(ANO5):c.1760G>A (p.Gly587Glu) http://identifiers.org/clinvar/282844 ^@ NM_001267550.2(TTN):c.84185T>A (p.Ile28062Lys) http://identifiers.org/clinvar/282845 ^@ NM_001267550.2(TTN):c.5503C>G (p.Gln1835Glu) http://identifiers.org/clinvar/282846 ^@ NM_001101426.3(ISPD):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/282847 ^@ NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met) http://identifiers.org/clinvar/282848 ^@ NM_000152.4(GAA):c.1712T>C (p.Leu571Pro) http://identifiers.org/clinvar/282849 ^@ NM_004006.2(DMD):c.1417A>T (p.Lys473Ter) http://identifiers.org/clinvar/282850 ^@ NM_012301.3(MAGI2):c.3911G>A (p.Gly1304Asp) http://identifiers.org/clinvar/282851 ^@ NM_000445.4(PLEC):c.1344+10T>G http://identifiers.org/clinvar/282852 ^@ NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) http://identifiers.org/clinvar/282853 ^@ NM_201382.3(PLEC):c.12354C>T (p.Leu4118=) http://identifiers.org/clinvar/282854 ^@ NM_201384.2(PLEC):c.9667G>C (p.Glu3223Gln) http://identifiers.org/clinvar/282855 ^@ NM_001128227.2(GNE):c.258-9C>T http://identifiers.org/clinvar/282856 ^@ NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp) http://identifiers.org/clinvar/282857 ^@ NM_013382.5(POMT2):c.293A>C (p.Asn98Thr) http://identifiers.org/clinvar/282858 ^@ NM_015295.2(SMCHD1):c.4567-9dupT http://identifiers.org/clinvar/282859 ^@ NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600Valfs) http://identifiers.org/clinvar/282860 ^@ NM_000232.4(SGCB):c.1_2delAT (p.Met1Glyfs) http://identifiers.org/clinvar/282861 ^@ NM_003494.3(DYSF):c.3504dupC (p.Lys1169Glnfs) http://identifiers.org/clinvar/282862 ^@ NM_001165928.3(DAG1):c.2561G>A (p.Arg854Gln) http://identifiers.org/clinvar/282863 ^@ NM_001267550.2(TTN):c.102839C>T (p.Thr34280Ile) http://identifiers.org/clinvar/282864 ^@ NM_000023.3(SGCA):c.1015G>A (p.Gly339Arg) http://identifiers.org/clinvar/282865 ^@ NM_000445.4(PLEC):c.4311C>T (p.Asp1437=) http://identifiers.org/clinvar/282866 ^@ NM_024301.4(FKRP):c.162_165dupGGAG (p.Phe56Glyfs) http://identifiers.org/clinvar/282867 ^@ NM_000070.2(CAPN3):c.938C>T (p.Pro313Leu) http://identifiers.org/clinvar/282869 ^@ NM_014112.4(TRPS1):c.3319delC (p.Leu1107Phefs) http://identifiers.org/clinvar/282870 ^@ NM_001267550.2(TTN):c.106818T>A (p.His35606Gln) http://identifiers.org/clinvar/282871 ^@ NM_001128227.2(GNE):c.1279A>C (p.Ile427Leu) http://identifiers.org/clinvar/282872 ^@ NM_182914.2(SYNE2):c.13850C>T (p.Thr4617Ile) http://identifiers.org/clinvar/282873 ^@ NM_000070.2(CAPN3):c.1257T>G (p.Asp419Glu) http://identifiers.org/clinvar/282874 ^@ NM_201383.2(PLEC):c.11433C>T (p.Gly3811=) http://identifiers.org/clinvar/282875 ^@ NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) http://identifiers.org/clinvar/282876 ^@ NM_004369.3(COL6A3):c.3595C>G (p.Gln1199Glu) http://identifiers.org/clinvar/282877 ^@ NM_033071.3(SYNE1):c.16082G>A (p.Arg5361Gln) http://identifiers.org/clinvar/282878 ^@ NM_001267550.2(TTN):c.40788A>G (p.Glu13596=) http://identifiers.org/clinvar/282879 ^@ NM_182914.2(SYNE2):c.16591C>A (p.Pro5531Thr) http://identifiers.org/clinvar/282880 ^@ NM_004006.2(DMD):c.10594G>A (p.Glu3532Lys) http://identifiers.org/clinvar/282881 ^@ NM_001267550.2(TTN):c.63614A>T (p.Lys21205Ile) http://identifiers.org/clinvar/282882 ^@ NM_182914.2(SYNE2):c.15689A>G (p.Lys5230Arg) http://identifiers.org/clinvar/282883 ^@ NM_004006.2(DMD):c.9569G>A (p.Arg3190Gln) http://identifiers.org/clinvar/282884 ^@ NM_000445.4(PLEC):c.3267G>A (p.Thr1089=) http://identifiers.org/clinvar/282885 ^@ NM_003494.3(DYSF):c.5159G>A (p.Arg1720His) http://identifiers.org/clinvar/282886 ^@ NM_001267550.2(TTN):c.15430G>A (p.Glu5144Lys) http://identifiers.org/clinvar/282887 ^@ NM_006731.2(FKTN):c.180A>G (p.Lys60=) http://identifiers.org/clinvar/282888 ^@ NM_033071.3(SYNE1):c.22341G>A (p.Gly7447=) http://identifiers.org/clinvar/282889 ^@ NM_000445.4(PLEC):c.10297C>T (p.Arg3433Cys) http://identifiers.org/clinvar/282890 ^@ NM_001256850.1(TTN):c.48219T>C (p.Asp16073=) http://identifiers.org/clinvar/282891 ^@ NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) http://identifiers.org/clinvar/282892 ^@ NM_182914.2(SYNE2):c.15848A>G (p.Asp5283Gly) http://identifiers.org/clinvar/282893 ^@ NM_182961.3(SYNE1):c.23051A>T (p.Asp7684Val) http://identifiers.org/clinvar/282894 ^@ NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) http://identifiers.org/clinvar/282895 ^@ NM_182914.2(SYNE2):c.15859G>A (p.Asp5287Asn) http://identifiers.org/clinvar/282896 ^@ NM_201382.3(PLEC):c.10740C>T (p.His3580=) http://identifiers.org/clinvar/282897 ^@ NM_033071.3(SYNE1):c.17342G>A (p.Arg5781His) http://identifiers.org/clinvar/282898 ^@ NM_000445.4(PLEC):c.6249C>T (p.Phe2083=) http://identifiers.org/clinvar/282899 ^@ NM_000016.5(ACADM):c.659C>T (p.Thr220Ile) http://identifiers.org/clinvar/282900 ^@ NM_130837.2(OPA1):c.1946T>C (p.Phe649Ser) http://identifiers.org/clinvar/282901 ^@ NM_000228.2(LAMB3):c.404G>A (p.Arg135His) http://identifiers.org/clinvar/282902 ^@ NM_000512.4(GALNS):c.1113C>T (p.Thr371=) http://identifiers.org/clinvar/282903 ^@ NM_019098.4(CNGB3):c.1433G>A (p.Arg478Gln) http://identifiers.org/clinvar/282904 ^@ NM_198129.2(LAMA3):c.6923C>A (p.Pro2308His) http://identifiers.org/clinvar/282905 ^@ NM_000023.3(SGCA):c.1109G>A (p.Arg370Gln) http://identifiers.org/clinvar/282906 ^@ NM_014363.5(SACS):c.3752T>C (p.Ile1251Thr) http://identifiers.org/clinvar/282907 ^@ NM_000543.4(SMPD1):c.1632C>T (p.Thr544=) http://identifiers.org/clinvar/282908 ^@ NM_000053.3(ATP7B):c.3467G>A (p.Arg1156His) http://identifiers.org/clinvar/282909 ^@ NM_000414.3(HSD17B4):c.1301A>G (p.Asp434Gly) http://identifiers.org/clinvar/282910 ^@ NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) http://identifiers.org/clinvar/282911 ^@ NM_004646.3(NPHS1):c.2847_2853delTGTGAGT (p.Val950Terfs) http://identifiers.org/clinvar/282912 ^@ NM_000441.1(SLC26A4):c.2283A>G (p.Thr761=) http://identifiers.org/clinvar/282913 ^@ NM_001142769.1(PCDH15):c.5142T>A (p.Ser1714Arg) http://identifiers.org/clinvar/282914 ^@ NM_000228.2(LAMB3):c.1188C>T (p.Thr396=) http://identifiers.org/clinvar/282915 ^@ NM_000053.3(ATP7B):c.3664delG (p.Asp1222Thrfs) http://identifiers.org/clinvar/282916 ^@ NM_152564.4(VPS13B):c.2569G>C (p.Glu857Gln) http://identifiers.org/clinvar/282917 ^@ NM_000174.4(GP9):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/282918 ^@ NM_000152.4(GAA):c.2427C>G (p.Ala809=) http://identifiers.org/clinvar/282919 ^@ NM_000110.3(DPYD):c.1774C>T (p.Arg592Trp) http://identifiers.org/clinvar/282920 ^@ NM_000060.4(BTD):c.1101C>T (p.Gly367=) http://identifiers.org/clinvar/282921 ^@ NM_001271208.1(NEB):c.3592_3594delAAC (p.Asn1198del) http://identifiers.org/clinvar/282922 ^@ NM_000018.3(ACADVL):c.678C>A (p.Ala226=) http://identifiers.org/clinvar/282923 ^@ NM_004646.3(NPHS1):c.3456G>T (p.Thr1152=) http://identifiers.org/clinvar/282924 ^@ NM_000391.3(TPP1):c.887-10_887-6delAAAAA http://identifiers.org/clinvar/282925 ^@ NM_000181.3(GUSB):c.1476+3G>A http://identifiers.org/clinvar/282926 ^@ NM_002435.2(MPI):c.10C>T (p.Pro4Ser) http://identifiers.org/clinvar/282927 ^@ NM_001257344.1(BCS1L):c.349C>A (p.Arg117=) http://identifiers.org/clinvar/282928 ^@ NM_000018.3(ACADVL):c.1567G>A (p.Gly523Arg) http://identifiers.org/clinvar/282929 ^@ NM_000466.2(PEX1):c.1111A>T (p.Arg371Trp) http://identifiers.org/clinvar/282930 ^@ NM_001876.3(CPT1A):c.2142+8C>T http://identifiers.org/clinvar/282931 ^@ NC_000005.9:g.147480899G>A http://identifiers.org/clinvar/282932 ^@ NM_000487.5(ARSA):c.1397C>T (p.Ala466Val) http://identifiers.org/clinvar/282933 ^@ NM_000346.3(SOX9):c.316A>G (p.Lys106Glu) http://identifiers.org/clinvar/282934 ^@ NM_005529.6(HSPG2):c.12982G>A (p.Ala4328Thr) http://identifiers.org/clinvar/282935 ^@ NM_014714.3(IFT140):c.758G>A (p.Arg253Gln) http://identifiers.org/clinvar/282936 ^@ NM_006031.5(PCNT):c.24G>C (p.Arg8=) http://identifiers.org/clinvar/282937 ^@ NM_006031.5(PCNT):c.5563C>A (p.Arg1855=) http://identifiers.org/clinvar/282938 ^@ NM_017837.3(PIGV):c.678G>A (p.Thr226=) http://identifiers.org/clinvar/282939 ^@ NM_006037.3(HDAC4):c.567G>A (p.Arg189=) http://identifiers.org/clinvar/282940 ^@ NM_001135659.2(NRXN1):c.610C>A (p.Leu204Met) http://identifiers.org/clinvar/282941 ^@ NM_001135659.2(NRXN1):c.609G>C (p.Lys203Asn) http://identifiers.org/clinvar/282942 ^@ NM_001005207.3(TRIM37):c.2401T>C (p.Ser801Pro) http://identifiers.org/clinvar/282943 ^@ NM_014780.4(CUL7):c.5088C>T (p.Thr1696=) http://identifiers.org/clinvar/282944 ^@ NM_001127464.2(ZNF469):c.2270T>G (p.Leu757Arg) http://identifiers.org/clinvar/282945 ^@ NM_001127464.2(ZNF469):c.5256C>G (p.Pro1752=) http://identifiers.org/clinvar/282946 ^@ NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) http://identifiers.org/clinvar/282947 ^@ NM_001173991.2(TMEM216):c.253C>A (p.Arg85=) http://identifiers.org/clinvar/282948 ^@ NM_001376.4(DYNC1H1):c.4075-5G>A http://identifiers.org/clinvar/282949 ^@ NM_021625.4(TRPV4):c.1491+10C>T http://identifiers.org/clinvar/282950 ^@ NM_004984.2(KIF5A):c.1372T>G (p.Ser458Ala) http://identifiers.org/clinvar/282951 ^@ NM_000443.3(ABCB4):c.3037A>C (p.Arg1013=) http://identifiers.org/clinvar/282952 ^@ NM_012186.2(FOXE3):c.834C>T (p.Pro278=) http://identifiers.org/clinvar/282953 ^@ NM_021150.3(GRIP1):c.692C>T (p.Ala231Val) http://identifiers.org/clinvar/282954 ^@ NM_001845.5(COL4A1):c.4098C>T (p.Gly1366=) http://identifiers.org/clinvar/282955 ^@ NM_006726.4(LRBA):c.*9G>T http://identifiers.org/clinvar/282956 ^@ NM_002427.3(MMP13):c.884G>A (p.Ser295Asn) http://identifiers.org/clinvar/282957 ^@ NM_002334.3(LRP4):c.5660C>G (p.Ser1887Cys) http://identifiers.org/clinvar/282958 ^@ NM_015631.5(TCTN3):c.931C>T (p.Leu311=) http://identifiers.org/clinvar/282959 ^@ NM_001457.3(FLNB):c.2654A>G (p.Asn885Ser) http://identifiers.org/clinvar/282960 ^@ NM_004407.3(DMP1):c.11G>C (p.Ser4Thr) http://identifiers.org/clinvar/282961 ^@ NM_000168.5(GLI3):c.1346G>C (p.Arg449Pro) http://identifiers.org/clinvar/282962 ^@ NM_000392.4(ABCC2):c.4430C>T (p.Thr1477Met) http://identifiers.org/clinvar/282963 ^@ NM_020366.3(RPGRIP1):c.1904C>G (p.Ala635Gly) http://identifiers.org/clinvar/282964 ^@ NM_001277115.1(DNAH11):c.1220A>C (p.Asp407Ala) http://identifiers.org/clinvar/282965 ^@ NM_000548.4(TSC2):c.3347C>T (p.Ala1116Val) http://identifiers.org/clinvar/282966 ^@ NM_020686.5(ABAT):c.484G>A (p.Ala162Thr) http://identifiers.org/clinvar/282967 ^@ NM_001135659.2(NRXN1):c.1408G>A (p.Val470Ile) http://identifiers.org/clinvar/282968 ^@ NM_000243.2(MEFV):c.585G>A (p.Glu195=) http://identifiers.org/clinvar/282969 ^@ NM_007075.3(WDR45):c.841G>A (p.Val281Met) http://identifiers.org/clinvar/282970 ^@ NM_000492.3(CFTR):c.3999delG (p.Lys1334Serfs) http://identifiers.org/clinvar/282971 ^@ NM_032119.3(ADGRV1):c.3022+8T>C http://identifiers.org/clinvar/282972 ^@ NM_000548.4(TSC2):c.3885C>T (p.Asp1295=) http://identifiers.org/clinvar/282973 ^@ NM_006920.4(SCN1A):c.1264G>A (p.Val422Met) http://identifiers.org/clinvar/282974 ^@ NM_001291858.1(IGF1R):c.1956T>G (p.Pro652=) http://identifiers.org/clinvar/282975 ^@ NM_003865.2(HESX1):c.374A>G (p.Asn125Ser) http://identifiers.org/clinvar/282976 ^@ NM_006662.2(SRCAP):c.2589G>A (p.Lys863=) http://identifiers.org/clinvar/282977 ^@ NM_000426.3(LAMA2):c.396+1G>T http://identifiers.org/clinvar/282978 ^@ NM_000426.3(LAMA2):c.444dupG (p.Pro149Alafs) http://identifiers.org/clinvar/282979 ^@ NM_001267550.2(TTN):c.105781C>A (p.Pro35261Thr) http://identifiers.org/clinvar/282980 ^@ NM_024757.4(EHMT1):c.3094G>A (p.Glu1032Lys) http://identifiers.org/clinvar/282981 ^@ NM_022455.4(NSD1):c.243G>C (p.Met81Ile) http://identifiers.org/clinvar/282982 ^@ NM_006920.4(SCN1A):c.2024A>C (p.Glu675Ala) http://identifiers.org/clinvar/282983 ^@ NM_001851.4(COL9A1):c.1634G>A (p.Arg545His) http://identifiers.org/clinvar/282984 ^@ NM_000316.2(PTH1R):c.638+9G>A http://identifiers.org/clinvar/282985 ^@ NM_004260.3(RECQL4):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/282986 ^@ NM_005857.4(ZMPSTE24):c.933A>G (p.Glu311=) http://identifiers.org/clinvar/282987 ^@ NM_052985.3(IFT122):c.229G>A (p.Val77Ile) http://identifiers.org/clinvar/282988 ^@ NM_003392.4(WNT5A):c.819G>A (p.Ala273=) http://identifiers.org/clinvar/282989 ^@ NM_002427.3(MMP13):c.1335C>T (p.Asn445=) http://identifiers.org/clinvar/282990 ^@ NM_002335.3(LRP5):c.1818G>A (p.Ala606=) http://identifiers.org/clinvar/282991 ^@ NM_001844.4(COL2A1):c.2679+6T>G http://identifiers.org/clinvar/282992 ^@ NM_014714.3(IFT140):c.1272G>A (p.Pro424=) http://identifiers.org/clinvar/282993 ^@ NM_015311.2(OBSL1):c.3159C>T (p.Pro1053=) http://identifiers.org/clinvar/282994 ^@ NM_001014796.1(DDR2):c.1513G>A (p.Gly505Ser) http://identifiers.org/clinvar/282995 ^@ NM_015311.2(OBSL1):c.3283G>A (p.Ala1095Thr) http://identifiers.org/clinvar/282996 ^@ NM_001015880.1(PAPSS2):c.861A>G (p.Leu287=) http://identifiers.org/clinvar/282997 ^@ NM_001605.2(AARS):c.1044G>C (p.Thr348=) http://identifiers.org/clinvar/282998 ^@ NM_000052.6(ATP7A):c.1721C>G (p.Thr574Arg) http://identifiers.org/clinvar/282999 ^@ NM_004273.4(CHST3):c.7A>G (p.Lys3Glu) http://identifiers.org/clinvar/283000 ^@ NM_015338.5(ASXL1):c.1281dupA (p.Gln428Thrfs) http://identifiers.org/clinvar/283001 ^@ NM_015338.5(ASXL1):c.3519G>A (p.Leu1173=) http://identifiers.org/clinvar/283002 ^@ NM_006920.4(SCN1A):c.1259C>A (p.Ala420Asp) http://identifiers.org/clinvar/283003 ^@ NM_018328.4(MBD5):c.258C>T (p.Thr86=) http://identifiers.org/clinvar/283004 ^@ NM_017882.2(CLN6):c.58C>T (p.Leu20=) http://identifiers.org/clinvar/283005 ^@ NM_001110556.1(FLNA):c.6770-5C>T http://identifiers.org/clinvar/283006 ^@ NM_032119.3(ADGRV1):c.6338A>G (p.Asn2113Ser) http://identifiers.org/clinvar/283007 ^@ NM_001135659.2(NRXN1):c.609_610delGCinsCA (p.Lys203_Leu204delinsAsnMet) http://identifiers.org/clinvar/283008 ^@ NM_004369.3(COL6A3):c.552G>A (p.Ala184=) http://identifiers.org/clinvar/283009 ^@ NM_201381.2(PLEC):c.5188G>A (p.Ala1730Thr) http://identifiers.org/clinvar/283010 ^@ NM_001849.3(COL6A2):c.1963G>A (p.Glu655Lys) http://identifiers.org/clinvar/283011 ^@ NM_012470.3(TNPO3):c.696+8A>G http://identifiers.org/clinvar/283012 ^@ NM_001267550.2(TTN):c.98288A>G (p.Lys32763Arg) http://identifiers.org/clinvar/283013 ^@ NM_004006.2(DMD):c.961-6G>A http://identifiers.org/clinvar/283014 ^@ NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) http://identifiers.org/clinvar/283015 ^@ NM_001267550.2(TTN):c.50269G>A (p.Ala16757Thr) http://identifiers.org/clinvar/283016 ^@ NM_001267550.2(TTN):c.98861C>T (p.Thr32954Ile) http://identifiers.org/clinvar/283017 ^@ NM_000445.4(PLEC):c.9658G>A (p.Gly3220Ser) http://identifiers.org/clinvar/283018 ^@ NM_213599.2(ANO5):c.1803T>C (p.Cys601=) http://identifiers.org/clinvar/283019 ^@ NM_000070.2(CAPN3):c.1193G>C (p.Trp398Ser) http://identifiers.org/clinvar/283020 ^@ NM_004369.3(COL6A3):c.2864G>A (p.Arg955His) http://identifiers.org/clinvar/283021 ^@ NM_033071.3(SYNE1):c.24504C>G (p.His8168Gln) http://identifiers.org/clinvar/283022 ^@ NM_001848.2(COL6A1):c.1820G>A (p.Cys607Tyr) http://identifiers.org/clinvar/283023 ^@ NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly) http://identifiers.org/clinvar/283024 ^@ NM_182914.2(SYNE2):c.3921A>G (p.Gln1307=) http://identifiers.org/clinvar/283025 ^@ NM_000445.4(PLEC):c.8706C>T (p.Pro2902=) http://identifiers.org/clinvar/283026 ^@ NM_033071.3(SYNE1):c.11440A>G (p.Thr3814Ala) http://identifiers.org/clinvar/283028 ^@ NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) http://identifiers.org/clinvar/283029 ^@ NM_001165928.3(DAG1):c.1046C>T (p.Pro349Leu) http://identifiers.org/clinvar/283030 ^@ NM_033071.3(SYNE1):c.5280T>C (p.Ile1760=) http://identifiers.org/clinvar/283031 ^@ NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg) http://identifiers.org/clinvar/283032 ^@ NM_000231.2(SGCG):c.452_458delTTACTGT (p.Phe151Terfs) http://identifiers.org/clinvar/283033 ^@ NM_013382.5(POMT2):c.1654-8T>G http://identifiers.org/clinvar/283034 ^@ NM_000445.4(PLEC):c.10809C>T (p.Gly3603=) http://identifiers.org/clinvar/283035 ^@ NM_182961.3(SYNE1):c.22038A>G (p.Ser7346=) http://identifiers.org/clinvar/283036 ^@ NM_001256850.1(TTN):c.30895+5A>G http://identifiers.org/clinvar/283037 ^@ NM_001849.3(COL6A2):c.920G>T (p.Gly307Val) http://identifiers.org/clinvar/283038 ^@ NM_024301.4(FKRP):c.731G>A (p.Arg244His) http://identifiers.org/clinvar/283039 ^@ NM_001849.3(COL6A2):c.446G>A (p.Arg149His) http://identifiers.org/clinvar/283040 ^@ NM_182914.2(SYNE2):c.6164A>G (p.His2055Arg) http://identifiers.org/clinvar/283041 ^@ NM_001848.2(COL6A1):c.931-3C>A http://identifiers.org/clinvar/283042 ^@ NM_006726.4(LRBA):c.2209G>A (p.Val737Ile) http://identifiers.org/clinvar/283043 ^@ NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) http://identifiers.org/clinvar/283044 ^@ NM_005562.2(LAMC2):c.1318A>G (p.Ile440Val) http://identifiers.org/clinvar/283045 ^@ NM_001267550.2(TTN):c.69116A>T (p.Asp23039Val) http://identifiers.org/clinvar/283046 ^@ NM_001267550.2(TTN):c.98216C>A (p.Thr32739Asn) http://identifiers.org/clinvar/283047 ^@ NM_004369.3(COL6A3):c.6930+4C>T http://identifiers.org/clinvar/283048 ^@ NM_001267550.2(TTN):c.30282T>G (p.Ser10094=) http://identifiers.org/clinvar/283049 ^@ NM_004369.3(COL6A3):c.2180A>C (p.Tyr727Ser) http://identifiers.org/clinvar/283050 ^@ NM_182961.3(SYNE1):c.23614C>T (p.Leu7872Phe) http://identifiers.org/clinvar/283051 ^@ NM_001128227.2(GNE):c.2143C>T (p.Arg715Cys) http://identifiers.org/clinvar/283052 ^@ NM_001267550.2(TTN):c.17280G>A (p.Thr5760=) http://identifiers.org/clinvar/283053 ^@ NM_033071.3(SYNE1):c.19182A>G (p.Leu6394=) http://identifiers.org/clinvar/283054 ^@ NM_004006.2(DMD):c.6594G>A (p.Gln2198=) http://identifiers.org/clinvar/283055 ^@ NM_201384.2(PLEC):c.12717C>T (p.Asn4239=) http://identifiers.org/clinvar/283056 ^@ NM_001267550.2(TTN):c.42099A>G (p.Glu14033=) http://identifiers.org/clinvar/283057 ^@ NM_000232.4(SGCB):c.572delT (p.Leu191Cysfs) http://identifiers.org/clinvar/283058 ^@ NM_001267550.2(TTN):c.97679G>A (p.Arg32560His) http://identifiers.org/clinvar/283059 ^@ NM_004369.3(COL6A3):c.7953G>A (p.Met2651Ile) http://identifiers.org/clinvar/283060 ^@ NM_012470.3(TNPO3):c.2070T>C (p.Asn690=) http://identifiers.org/clinvar/283061 ^@ NM_182914.2(SYNE2):c.5608A>C (p.Ser1870Arg) http://identifiers.org/clinvar/283062 ^@ NM_182914.2(SYNE2):c.9974C>T (p.Ala3325Val) http://identifiers.org/clinvar/283063 ^@ NM_001267550.2(TTN):c.63820A>G (p.Lys21274Glu) http://identifiers.org/clinvar/283064 ^@ NM_012210.3(TRIM32):c.1834A>T (p.Ile612Phe) http://identifiers.org/clinvar/283065 ^@ NM_007171.3(POMT1):c.1862G>A (p.Arg621Gln) http://identifiers.org/clinvar/283066 ^@ NM_001267550.2(TTN):c.105544T>C (p.Tyr35182His) http://identifiers.org/clinvar/283067 ^@ NM_006790.2(MYOT):c.61T>C (p.Leu21=) http://identifiers.org/clinvar/283068 ^@ NM_004006.2(DMD):c.8757C>T (p.Asn2919=) http://identifiers.org/clinvar/283069 ^@ NM_001267550.2(TTN):c.88214A>G (p.Gln29405Arg) http://identifiers.org/clinvar/283070 ^@ NM_001130987.1(DYSF):c.3052T>C (p.Ser1018Pro) http://identifiers.org/clinvar/283071 ^@ NM_001849.3(COL6A2):c.1530C>T (p.Pro510=) http://identifiers.org/clinvar/283072 ^@ NM_201381.2(PLEC):c.4464C>T (p.Arg1488=) http://identifiers.org/clinvar/283073 ^@ NM_001849.3(COL6A2):c.1572+3G>A http://identifiers.org/clinvar/283074 ^@ NM_004463.2(FGD1):c.2751C>T (p.Gly917=) http://identifiers.org/clinvar/283075 ^@ NM_002335.3(LRP5):c.2317G>A (p.Gly773Ser) http://identifiers.org/clinvar/283076 ^@ NM_000396.3(CTSK):c.-1-9C>T http://identifiers.org/clinvar/283077 ^@ NM_015384.4(NIPBL):c.7893T>C (p.Asp2631=) http://identifiers.org/clinvar/283078 ^@ NM_198525.2(KIF7):c.2420C>T (p.Thr807Met) http://identifiers.org/clinvar/283079 ^@ NM_153717.2(EVC):c.550G>A (p.Asp184Asn) http://identifiers.org/clinvar/283080 ^@ NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) http://identifiers.org/clinvar/283081 ^@ NM_052985.3(IFT122):c.1131G>A (p.Thr377=) http://identifiers.org/clinvar/283082 ^@ NM_001080463.1(DYNC2H1):c.1249-6T>C http://identifiers.org/clinvar/283083 ^@ NM_000493.3(COL10A1):c.1392G>A (p.Gly464=) http://identifiers.org/clinvar/283084 ^@ NM_015170.2(SULF1):c.1645G>A (p.Glu549Lys) http://identifiers.org/clinvar/283085 ^@ NM_002427.3(MMP13):c.1062T>G (p.Phe354Leu) http://identifiers.org/clinvar/283086 ^@ NM_003995.3(NPR2):c.2327G>A (p.Arg776Gln) http://identifiers.org/clinvar/283087 ^@ NM_001039141.2(TRIOBP):c.6723G>C (p.Leu2241=) http://identifiers.org/clinvar/283088 ^@ NM_144672.3(OTOA):c.1488+8G>A http://identifiers.org/clinvar/283089 ^@ NM_001128228.2(TPRN):c.2073+9C>T http://identifiers.org/clinvar/283090 ^@ NM_001039213.3(CEACAM16):c.1191C>A (p.Asp397Glu) http://identifiers.org/clinvar/283091 ^@ NM_001101426.3(ISPD):c.1186G>T (p.Glu396Ter) http://identifiers.org/clinvar/283092 ^@ NM_003494.3(DYSF):c.2367C>T (p.Ser789=) http://identifiers.org/clinvar/283093 ^@ NM_201381.2(PLEC):c.9136G>A (p.Val3046Met) http://identifiers.org/clinvar/283094 ^@ NM_182961.3(SYNE1):c.11449T>C (p.Leu3817=) http://identifiers.org/clinvar/283095 ^@ NM_213599.2(ANO5):c.2599delA (p.Arg867Glufs) http://identifiers.org/clinvar/283096 ^@ NM_033071.3(SYNE1):c.19386C>G (p.Leu6462=) http://identifiers.org/clinvar/283098 ^@ NM_000445.4(PLEC):c.12764C>G (p.Ser4255Cys) http://identifiers.org/clinvar/283099 ^@ NM_000070.2(CAPN3):c.2105C>T (p.Ala702Val) http://identifiers.org/clinvar/283100 ^@ NM_201379.2(PLEC):c.7105G>A (p.Glu2369Lys) http://identifiers.org/clinvar/283101 ^@ NM_201379.2(PLEC):c.2719C>T (p.Leu907=) http://identifiers.org/clinvar/283102 ^@ NM_000445.4(PLEC):c.2820+5G>A http://identifiers.org/clinvar/283103 ^@ NM_182914.2(SYNE2):c.2271G>A (p.Leu757=) http://identifiers.org/clinvar/283104 ^@ NM_001267550.2(TTN):c.58609A>T (p.Thr19537Ser) http://identifiers.org/clinvar/283105 ^@ NM_033071.3(SYNE1):c.6360T>C (p.Thr2120=) http://identifiers.org/clinvar/283106 ^@ NM_001267550.2(TTN):c.3319G>A (p.Gly1107Ser) http://identifiers.org/clinvar/283107 ^@ NM_000070.2(CAPN3):c.338T>C (p.Ile113Thr) http://identifiers.org/clinvar/283108 ^@ NM_012470.3(TNPO3):c.275C>T (p.Thr92Ile) http://identifiers.org/clinvar/283109 ^@ NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys) http://identifiers.org/clinvar/283110 ^@ NM_001128227.2(GNE):c.580A>G (p.Ser194Gly) http://identifiers.org/clinvar/283111 ^@ NM_000023.3(SGCA):c.450C>T (p.Pro150=) http://identifiers.org/clinvar/283112 ^@ NM_015295.2(SMCHD1):c.321A>G (p.Leu107=) http://identifiers.org/clinvar/283113 ^@ NM_001165928.3(DAG1):c.2192C>T (p.Ala731Val) http://identifiers.org/clinvar/283114 ^@ NM_001128227.2(GNE):c.661C>T (p.Leu221Phe) http://identifiers.org/clinvar/283115 ^@ NM_001849.3(COL6A2):c.1609-7G>A http://identifiers.org/clinvar/283116 ^@ NM_001849.3(COL6A2):c.2985C>T (p.Ala995=) http://identifiers.org/clinvar/283117 ^@ NM_033071.3(SYNE1):c.10966G>A (p.Val3656Met) http://identifiers.org/clinvar/283118 ^@ NM_000023.3(SGCA):c.350G>A (p.Arg117Gln) http://identifiers.org/clinvar/283119 ^@ NM_003482.3(KMT2D):c.7629G>A (p.Gly2543=) http://identifiers.org/clinvar/283120 ^@ NM_003482.3(KMT2D):c.1010C>T (p.Ser337Leu) http://identifiers.org/clinvar/283121 ^@ NM_001014797.2(KCNMA1):c.24C>T (p.Gly8=) http://identifiers.org/clinvar/283122 ^@ NM_001853.3(COL9A3):c.891C>T (p.Ser297=) http://identifiers.org/clinvar/283123 ^@ NM_153717.2(EVC):c.1653G>A (p.Pro551=) http://identifiers.org/clinvar/283124 ^@ NM_153717.2(EVC):c.1892C>T (p.Thr631Met) http://identifiers.org/clinvar/283125 ^@ NM_014780.4(CUL7):c.594G>A (p.Gln198=) http://identifiers.org/clinvar/283126 ^@ NM_015311.2(OBSL1):c.5202C>A (p.Asp1734Glu) http://identifiers.org/clinvar/283127 ^@ NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) http://identifiers.org/clinvar/283128 ^@ NM_001080463.1(DYNC2H1):c.7149G>A (p.Thr2383=) http://identifiers.org/clinvar/283129 ^@ NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) http://identifiers.org/clinvar/283130 ^@ NM_000168.5(GLI3):c.3935T>G (p.Met1312Arg) http://identifiers.org/clinvar/283131 ^@ NM_153717.2(EVC):c.1540G>A (p.Glu514Lys) http://identifiers.org/clinvar/283132 ^@ NM_153717.2(EVC):c.2449+10C>A http://identifiers.org/clinvar/283133 ^@ NM_057174.2(PEX16):c.370C>T (p.Arg124Trp) http://identifiers.org/clinvar/283134 ^@ NM_018849.2(ABCB4):c.2833C>T (p.Gln945Ter) http://identifiers.org/clinvar/283135 ^@ NM_001206977.1(NR1H4):c.893A>G (p.His298Arg) http://identifiers.org/clinvar/283136 ^@ NM_001267550.2(TTN):c.56632G>A (p.Ala18878Thr) http://identifiers.org/clinvar/283137 ^@ NM_000070.2(CAPN3):c.632+3A>G http://identifiers.org/clinvar/283138 ^@ NM_000751.2(CHRND):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/283139 ^@ NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) http://identifiers.org/clinvar/283140 ^@ NM_182914.2(SYNE2):c.4286T>C (p.Leu1429Pro) http://identifiers.org/clinvar/283141 ^@ NM_000070.2(CAPN3):c.1566G>A (p.Lys522=) http://identifiers.org/clinvar/283142 ^@ NM_182914.2(SYNE2):c.430C>G (p.Leu144Val) http://identifiers.org/clinvar/283143 ^@ NM_182961.3(SYNE1):c.17483C>G (p.Thr5828Arg) http://identifiers.org/clinvar/283144 ^@ NM_001458.4(FLNC):c.272A>C (p.Asn91Thr) http://identifiers.org/clinvar/283145 ^@ NM_001099922.2(ALG13):c.652A>G (p.Asn218Asp) http://identifiers.org/clinvar/283146 ^@ NM_001089.2(ABCA3):c.1417G>A (p.Val473Ile) http://identifiers.org/clinvar/283147 ^@ NM_178452.5(DNAAF1):c.1069G>A (p.Ala357Thr) http://identifiers.org/clinvar/283148 ^@ NM_000548.4(TSC2):c.4572_4577dupACAGTC (p.Ser1526_Phe1527insGlnSer) http://identifiers.org/clinvar/283149 ^@ NM_000090.3(COL3A1):c.3935G>A (p.Arg1312Gln) http://identifiers.org/clinvar/283150 ^@ NM_000093.4(COL5A1):c.277+6T>G http://identifiers.org/clinvar/283151 ^@ NM_017617.4(NOTCH1):c.1725C>T (p.Cys575=) http://identifiers.org/clinvar/283152 ^@ NM_001999.3(FBN2):c.2084G>A (p.Arg695His) http://identifiers.org/clinvar/283153 ^@ NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) http://identifiers.org/clinvar/283154 ^@ NM_183416.3(KIF1B):c.3017A>G (p.Glu1006Gly) http://identifiers.org/clinvar/283155 ^@ NM_018979.3(WNK1):c.2532T>A (p.Ile844=) http://identifiers.org/clinvar/283156 ^@ NM_001035.2(RYR2):c.1527C>T (p.Ser509=) http://identifiers.org/clinvar/283157 ^@ NM_001080116.1(LDB3):c.455C>T (p.Ala152Val) http://identifiers.org/clinvar/283158 ^@ NM_002880.3(RAF1):c.1178A>C (p.Glu393Ala) http://identifiers.org/clinvar/283159 ^@ NM_000495.4(COL4A5):c.3527G>A (p.Gly1176Glu) http://identifiers.org/clinvar/283160 ^@ NM_004006.2(DMD):c.1433C>T (p.Pro478Leu) http://identifiers.org/clinvar/283161 ^@ NM_001077482.2(NR1I3):c.1005C>T (p.Tyr335=) http://identifiers.org/clinvar/283162 ^@ NM_001077482.2(NR1I3):c.289C>T (p.Arg97Trp) http://identifiers.org/clinvar/283163 ^@ NM_030665.3(RAI1):c.3720C>T (p.Val1240=) http://identifiers.org/clinvar/283164 ^@ NM_000260.3(MYO7A):c.401T>C (p.Ile134Thr) http://identifiers.org/clinvar/283165 ^@ NM_000260.3(MYO7A):c.398A>C (p.His133Pro) http://identifiers.org/clinvar/283166 ^@ NM_173477.4(USH1G):c.-2C>T http://identifiers.org/clinvar/283167 ^@ NM_182914.2(SYNE2):c.3408G>T (p.Arg1136Ser) http://identifiers.org/clinvar/283168 ^@ NM_001848.2(COL6A1):c.2156C>T (p.Pro719Leu) http://identifiers.org/clinvar/283169 ^@ NM_001458.4(FLNC):c.1197C>T (p.Asp399=) http://identifiers.org/clinvar/283170 ^@ NM_170707.3(LMNA):c.1051A>C (p.Arg351=) http://identifiers.org/clinvar/283171 ^@ NM_173660.4(DOK7):c.1306G>A (p.Gly436Ser) http://identifiers.org/clinvar/283172 ^@ NM_001267550.2(TTN):c.104333C>T (p.Thr34778Met) http://identifiers.org/clinvar/283173 ^@ NM_032409.2(PINK1):c.417G>T (p.Gly139=) http://identifiers.org/clinvar/283174 ^@ NM_001127221.1(CACNA1A):c.5136+10G>A http://identifiers.org/clinvar/283175 ^@ NM_001127221.1(CACNA1A):c.4293G>T (p.Ala1431=) http://identifiers.org/clinvar/283176 ^@ NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) http://identifiers.org/clinvar/283177 ^@ NM_020533.2(MCOLN1):c.782C>T (p.Thr261Met) http://identifiers.org/clinvar/283178 ^@ NM_001848.2(COL6A1):c.1908C>G (p.Asp636Glu) http://identifiers.org/clinvar/283179 ^@ NM_000070.2(CAPN3):c.1743_1744delTG (p.Glu582Glyfs) http://identifiers.org/clinvar/283180 ^@ NM_001165928.3(DAG1):c.2335C>T (p.Arg779Trp) http://identifiers.org/clinvar/283181 ^@ NM_004006.2(DMD):c.6799C>G (p.Leu2267Val) http://identifiers.org/clinvar/283182 ^@ NM_014780.4(CUL7):c.3273G>A (p.Ser1091=) http://identifiers.org/clinvar/283183 ^@ NM_003482.3(KMT2D):c.2206C>T (p.Pro736Ser) http://identifiers.org/clinvar/283184 ^@ NM_016247.3(IMPG2):c.1818dupG (p.Gln607Alafs) http://identifiers.org/clinvar/283185 ^@ NM_001004334.3(GPR179):c.5019C>G (p.Thr1673=) http://identifiers.org/clinvar/283186 ^@ NM_001042472.2(ABHD12):c.1041C>T (p.Ile347=) http://identifiers.org/clinvar/283187 ^@ NM_001029883.2(C2orf71):c.3447G>A (p.Pro1149=) http://identifiers.org/clinvar/283188 ^@ NM_001142564.1(CNGA1):c.1779C>T (p.Leu593=) http://identifiers.org/clinvar/283189 ^@ NM_207361.5(FREM2):c.6743-9C>T http://identifiers.org/clinvar/283190 ^@ NM_206933.2(USH2A):c.3316+6T>C http://identifiers.org/clinvar/283191 ^@ NM_001112704.1(VAX1):c.642G>A (p.Leu214=) http://identifiers.org/clinvar/283192 ^@ NM_032119.3(ADGRV1):c.5313+4A>G http://identifiers.org/clinvar/283193 ^@ NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) http://identifiers.org/clinvar/283194 ^@ NM_014918.4(CHSY1):c.2088G>A (p.Thr696=) http://identifiers.org/clinvar/283195 ^@ NM_020436.4(SALL4):c.2482A>T (p.Thr828Ser) http://identifiers.org/clinvar/283196 ^@ NM_006037.3(HDAC4):c.2148G>A (p.Ser716=) http://identifiers.org/clinvar/283198 ^@ NM_000445.4(PLEC):c.2063T>G (p.Leu688Arg) http://identifiers.org/clinvar/283199 ^@ NM_213599.2(ANO5):c.2521-1delG http://identifiers.org/clinvar/283200 ^@ NM_001267550.2(TTN):c.7482T>G (p.Ile2494Met) http://identifiers.org/clinvar/283201 ^@ NM_033071.3(SYNE1):c.9096A>T (p.Glu3032Asp) http://identifiers.org/clinvar/283202 ^@ NM_201380.3(PLEC):c.2368G>A (p.Ala790Thr) http://identifiers.org/clinvar/283203 ^@ NM_033071.3(SYNE1):c.7066C>T (p.Leu2356Phe) http://identifiers.org/clinvar/283204 ^@ NM_004369.3(COL6A3):c.8575C>A (p.Pro2859Thr) http://identifiers.org/clinvar/283205 ^@ NM_001130987.1(DYSF):c.4614delT (p.Phe1538Leufs) http://identifiers.org/clinvar/283206 ^@ NM_003494.3(DYSF):c.3444T>A (p.Tyr1148Ter) http://identifiers.org/clinvar/283207 ^@ NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) http://identifiers.org/clinvar/283208 ^@ NM_182914.2(SYNE2):c.17539G>A (p.Glu5847Lys) http://identifiers.org/clinvar/283209 ^@ NM_015192.3(PLCB1):c.3584A>G (p.His1195Arg) http://identifiers.org/clinvar/283210 ^@ NM_030665.3(RAI1):c.3318C>A (p.Ala1106=) http://identifiers.org/clinvar/283211 ^@ NM_004187.3(KDM5C):c.3540G>A (p.Thr1180=) http://identifiers.org/clinvar/283212 ^@ NM_030665.3(RAI1):c.5253C>T (p.Ala1751=) http://identifiers.org/clinvar/283213 ^@ NM_030665.3(RAI1):c.303C>T (p.Gly101=) http://identifiers.org/clinvar/283214 ^@ NM_001080522.2(CC2D2A):c.4838T>C (p.Val1613Ala) http://identifiers.org/clinvar/283215 ^@ NM_007126.3(VCP):c.1584C>T (p.Ala528=) http://identifiers.org/clinvar/283216 ^@ NM_182914.2(SYNE2):c.8417A>G (p.Asn2806Ser) http://identifiers.org/clinvar/283217 ^@ NM_017534.5(MYH2):c.4379C>G (p.Ala1460Gly) http://identifiers.org/clinvar/283218 ^@ NM_005710.2(PQBP1):c.230C>T (p.Ser77Phe) http://identifiers.org/clinvar/283219 ^@ NM_000152.4(GAA):c.266G>A (p.Arg89His) http://identifiers.org/clinvar/283220 ^@ NM_003673.3(TCAP):c.460C>T (p.Arg154Cys) http://identifiers.org/clinvar/283221 ^@ NM_001267550.2(TTN):c.40514C>T (p.Pro13505Leu) http://identifiers.org/clinvar/283222 ^@ NM_001267550.2(TTN):c.104623A>G (p.Arg34875Gly) http://identifiers.org/clinvar/283223 ^@ NM_201381.2(PLEC):c.3981C>T (p.Arg1327=) http://identifiers.org/clinvar/283224 ^@ NM_000445.4(PLEC):c.11905G>A (p.Ala3969Thr) http://identifiers.org/clinvar/283225 ^@ NM_182914.2(SYNE2):c.7462G>A (p.Ala2488Thr) http://identifiers.org/clinvar/283226 ^@ NM_201383.2(PLEC):c.4747C>A (p.Gln1583Lys) http://identifiers.org/clinvar/283227 ^@ NM_000023.3(SGCA):c.293G>C (p.Arg98Pro) http://identifiers.org/clinvar/283228 ^@ NM_003494.3(DYSF):c.2093C>T (p.Ala698Val) http://identifiers.org/clinvar/283229 ^@ NM_001128227.2(GNE):c.1900C>T (p.Leu634Phe) http://identifiers.org/clinvar/283230 ^@ NM_000152.4(GAA):c.1124G>T (p.Arg375Leu) http://identifiers.org/clinvar/283231 ^@ NM_024301.4(FKRP):c.401G>C (p.Arg134Pro) http://identifiers.org/clinvar/283232 ^@ NM_001267550.2(TTN):c.69845T>C (p.Val23282Ala) http://identifiers.org/clinvar/283233 ^@ NM_001130987.1(DYSF):c.5174+1G>A http://identifiers.org/clinvar/283234 ^@ NM_213599.2(ANO5):c.2080C>T (p.Pro694Ser) http://identifiers.org/clinvar/283235 ^@ NM_182914.2(SYNE2):c.11479G>C (p.Val3827Leu) http://identifiers.org/clinvar/283236 ^@ NM_213599.2(ANO5):c.1063C>T (p.Leu355Phe) http://identifiers.org/clinvar/283237 ^@ NM_004369.3(COL6A3):c.1087C>T (p.Arg363Cys) http://identifiers.org/clinvar/283238 ^@ NM_015295.2(SMCHD1):c.3245A>G (p.Asn1082Ser) http://identifiers.org/clinvar/283239 ^@ NM_004369.3(COL6A3):c.8804C>T (p.Ala2935Val) http://identifiers.org/clinvar/283240 ^@ NM_001267550.2(TTN):c.25105G>T (p.Val8369Phe) http://identifiers.org/clinvar/283241 ^@ NM_201380.3(PLEC):c.5825G>A (p.Arg1942His) http://identifiers.org/clinvar/283242 ^@ NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys) http://identifiers.org/clinvar/283243 ^@ NM_001130987.1(DYSF):c.5561G>T (p.Cys1854Phe) http://identifiers.org/clinvar/283244 ^@ NM_201381.2(PLEC):c.6986C>T (p.Thr2329Met) http://identifiers.org/clinvar/283245 ^@ NM_001267550.2(TTN):c.95126C>A (p.Pro31709His) http://identifiers.org/clinvar/283246 ^@ NM_033071.3(SYNE1):c.3955G>A (p.Glu1319Lys) http://identifiers.org/clinvar/283247 ^@ NM_201382.3(PLEC):c.11077G>A (p.Ala3693Thr) http://identifiers.org/clinvar/283248 ^@ NM_001165928.3(DAG1):c.1690C>A (p.Leu564Ile) http://identifiers.org/clinvar/283249 ^@ NM_001128227.2(GNE):c.841C>A (p.Leu281Met) http://identifiers.org/clinvar/283250 ^@ NM_001267550.2(TTN):c.27446G>C (p.Gly9149Ala) http://identifiers.org/clinvar/283251 ^@ NM_000070.2(CAPN3):c.77C>T (p.Pro26Leu) http://identifiers.org/clinvar/283252 ^@ NM_003494.3(DYSF):c.626C>T (p.Ser209Phe) http://identifiers.org/clinvar/283253 ^@ NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val) http://identifiers.org/clinvar/283254 ^@ NM_201382.3(PLEC):c.13450G>A (p.Gly4484Ser) http://identifiers.org/clinvar/283255 ^@ NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys) http://identifiers.org/clinvar/283256 ^@ NM_033071.3(SYNE1):c.8627T>C (p.Met2876Thr) http://identifiers.org/clinvar/283257 ^@ NM_004369.3(COL6A3):c.9358A>C (p.Thr3120Pro) http://identifiers.org/clinvar/283258 ^@ NM_000231.2(SGCG):c.190T>C (p.Ser64Pro) http://identifiers.org/clinvar/283259 ^@ NM_000070.2(CAPN3):c.2242C>T (p.Arg748Ter) http://identifiers.org/clinvar/283260 ^@ NM_001267550.2(TTN):c.103723C>T (p.Arg34575Cys) http://identifiers.org/clinvar/283261 ^@ NM_000070.2(CAPN3):c.788G>A (p.Gly263Asp) http://identifiers.org/clinvar/283262 ^@ NM_001267550.2(TTN):c.57671G>A (p.Arg19224His) http://identifiers.org/clinvar/283263 ^@ NM_001267550.2(TTN):c.20759C>T (p.Ala6920Val) http://identifiers.org/clinvar/283264 ^@ NM_006790.2(MYOT):c.1413G>T (p.Leu471Phe) http://identifiers.org/clinvar/283265 ^@ NM_024301.4(FKRP):c.1003G>A (p.Ala335Thr) http://identifiers.org/clinvar/283266 ^@ NM_015295.2(SMCHD1):c.2637A>C (p.Lys879Asn) http://identifiers.org/clinvar/283267 ^@ NM_001130987.1(DYSF):c.951+2T>G http://identifiers.org/clinvar/283268 ^@ NM_201382.3(PLEC):c.3438C>G (p.Phe1146Leu) http://identifiers.org/clinvar/283269 ^@ NM_201379.2(PLEC):c.1580C>T (p.Pro527Leu) http://identifiers.org/clinvar/283270 ^@ NM_182914.2(SYNE2):c.8005A>G (p.Thr2669Ala) http://identifiers.org/clinvar/283271 ^@ NM_182914.2(SYNE2):c.14969A>G (p.Asn4990Ser) http://identifiers.org/clinvar/283272 ^@ NM_004369.3(COL6A3):c.758C>A (p.Thr253Asn) http://identifiers.org/clinvar/283273 ^@ NM_004006.2(DMD):c.1988C>T (p.Ala663Val) http://identifiers.org/clinvar/283274 ^@ NM_001267550.2(TTN):c.805C>A (p.Pro269Thr) http://identifiers.org/clinvar/283275 ^@ NM_201380.3(PLEC):c.5245C>T (p.Arg1749Trp) http://identifiers.org/clinvar/283276 ^@ NM_201382.3(PLEC):c.3588C>T (p.Asp1196=) http://identifiers.org/clinvar/283277 ^@ NM_182914.2(SYNE2):c.4133A>G (p.Asp1378Gly) http://identifiers.org/clinvar/283278 ^@ NM_001128227.2(GNE):c.1225G>T (p.Asp409Tyr) http://identifiers.org/clinvar/283279 ^@ NM_004369.3(COL6A3):c.1216C>T (p.Arg406Cys) http://identifiers.org/clinvar/283280 ^@ NM_004369.3(COL6A3):c.5590G>A (p.Ala1864Thr) http://identifiers.org/clinvar/283281 ^@ NM_001267550.2(TTN):c.52138G>A (p.Asp17380Asn) http://identifiers.org/clinvar/283282 ^@ NM_001267550.2(TTN):c.50983G>A (p.Val16995Ile) http://identifiers.org/clinvar/283283 ^@ NM_001165928.3(DAG1):c.2069C>T (p.Pro690Leu) http://identifiers.org/clinvar/283284 ^@ NM_001267550.2(TTN):c.90590A>G (p.Glu30197Gly) http://identifiers.org/clinvar/283285 ^@ NM_000445.4(PLEC):c.13549C>A (p.Arg4517Ser) http://identifiers.org/clinvar/283286 ^@ NM_201380.3(PLEC):c.5624G>A (p.Arg1875Gln) http://identifiers.org/clinvar/283287 ^@ NM_201382.3(PLEC):c.6242G>A (p.Gly2081Asp) http://identifiers.org/clinvar/283288 ^@ NM_001849.3(COL6A2):c.2361G>A (p.Thr787=) http://identifiers.org/clinvar/283289 ^@ NM_000117.2(EMD):c.82+4C>A http://identifiers.org/clinvar/283290 ^@ NM_001267550.2(TTN):c.100116C>T (p.Phe33372=) http://identifiers.org/clinvar/283291 ^@ NM_182914.2(SYNE2):c.7300C>T (p.Arg2434Trp) http://identifiers.org/clinvar/283292 ^@ NM_001267550.2(TTN):c.2441C>T (p.Pro814Leu) http://identifiers.org/clinvar/283293 ^@ NM_001849.3(COL6A2):c.828G>A (p.Pro276=) http://identifiers.org/clinvar/283294 ^@ NM_004369.3(COL6A3):c.936C>T (p.Leu312=) http://identifiers.org/clinvar/283295 ^@ NM_033071.3(SYNE1):c.14968C>G (p.Pro4990Ala) http://identifiers.org/clinvar/283296 ^@ NM_001267550.2(TTN):c.103958G>A (p.Arg34653His) http://identifiers.org/clinvar/283297 ^@ NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln) http://identifiers.org/clinvar/283298 ^@ NM_001267550.2(TTN):c.23352G>A (p.Thr7784=) http://identifiers.org/clinvar/283299 ^@ NM_001101426.3(ISPD):c.1058A>G (p.Lys353Arg) http://identifiers.org/clinvar/283300 ^@ NM_006790.2(MYOT):c.1102C>T (p.Leu368=) http://identifiers.org/clinvar/283301 ^@ NM_033071.3(SYNE1):c.22689G>A (p.Ser7563=) http://identifiers.org/clinvar/283302 ^@ NM_182914.2(SYNE2):c.13473A>G (p.Arg4491=) http://identifiers.org/clinvar/283303 ^@ NM_182914.2(SYNE2):c.10392C>T (p.Cys3464=) http://identifiers.org/clinvar/283304 ^@ NM_000445.4(PLEC):c.4954G>A (p.Glu1652Lys) http://identifiers.org/clinvar/283305 ^@ NM_024301.4(FKRP):c.169G>A (p.Glu57Lys) http://identifiers.org/clinvar/283306 ^@ NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) http://identifiers.org/clinvar/283307 ^@ NM_033071.3(SYNE1):c.20971A>G (p.Lys6991Glu) http://identifiers.org/clinvar/283308 ^@ NM_001267550.2(TTN):c.42931A>C (p.Asn14311His) http://identifiers.org/clinvar/283309 ^@ NM_001267550.2(TTN):c.33643_33645delAAG (p.Lys11215del) http://identifiers.org/clinvar/283310 ^@ NM_033071.3(SYNE1):c.5056A>G (p.Ser1686Gly) http://identifiers.org/clinvar/283311 ^@ NM_201382.3(PLEC):c.10606A>T (p.Thr3536Ser) http://identifiers.org/clinvar/283312 ^@ NM_201384.2(PLEC):c.10605G>A (p.Glu3535=) http://identifiers.org/clinvar/283313 ^@ NM_033071.3(SYNE1):c.13650G>A (p.Thr4550=) http://identifiers.org/clinvar/283314 ^@ NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) http://identifiers.org/clinvar/283315 ^@ NM_001848.2(COL6A1):c.2622G>A (p.Ala874=) http://identifiers.org/clinvar/283316 ^@ NM_001165928.3(DAG1):c.1022C>T (p.Thr341Ile) http://identifiers.org/clinvar/283317 ^@ NM_182914.2(SYNE2):c.12656C>T (p.Ala4219Val) http://identifiers.org/clinvar/283318 ^@ NM_201384.2(PLEC):c.10099G>C (p.Glu3367Gln) http://identifiers.org/clinvar/283319 ^@ NM_001267550.2(TTN):c.70137C>A (p.Thr23379=) http://identifiers.org/clinvar/283320 ^@ NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) http://identifiers.org/clinvar/283321 ^@ NM_000117.2(EMD):c.449+4C>T http://identifiers.org/clinvar/283322 ^@ NM_004369.3(COL6A3):c.1217G>A (p.Arg406His) http://identifiers.org/clinvar/283323 ^@ NM_000152.4(GAA):c.83G>T (p.Gly28Val) http://identifiers.org/clinvar/283324 ^@ NM_182914.2(SYNE2):c.2190A>G (p.Thr730=) http://identifiers.org/clinvar/283325 ^@ NM_001848.2(COL6A1):c.98-6G>A http://identifiers.org/clinvar/283326 ^@ NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp) http://identifiers.org/clinvar/283327 ^@ NM_182961.3(SYNE1):c.17203-6_17203-5insTT http://identifiers.org/clinvar/283328 ^@ NM_033071.3(SYNE1):c.10857A>G (p.Glu3619=) http://identifiers.org/clinvar/283329 ^@ NM_001243766.1(POMGNT1):c.268C>T (p.Arg90Cys) http://identifiers.org/clinvar/283330 ^@ NM_001849.3(COL6A2):c.84G>A (p.Pro28=) http://identifiers.org/clinvar/283331 ^@ NM_201382.3(PLEC):c.12627C>T (p.Ile4209=) http://identifiers.org/clinvar/283332 ^@ NM_033071.3(SYNE1):c.18986G>A (p.Arg6329His) http://identifiers.org/clinvar/283333 ^@ NM_001849.3(COL6A2):c.2159G>A (p.Arg720His) http://identifiers.org/clinvar/283334 ^@ NM_182961.3(SYNE1):c.25659+7A>G http://identifiers.org/clinvar/283335 ^@ NM_004006.2(DMD):c.10291G>A (p.Asp3431Asn) http://identifiers.org/clinvar/283336 ^@ NM_001849.3(COL6A2):c.1685C>T (p.Pro562Leu) http://identifiers.org/clinvar/283337 ^@ NM_000445.4(PLEC):c.12324C>T (p.Thr4108=) http://identifiers.org/clinvar/283338 ^@ NM_001243766.1(POMGNT1):c.286C>T (p.Arg96Trp) http://identifiers.org/clinvar/283339 ^@ NM_001127510.2(APC):c.2483delC (p.Thr828Ilefs) http://identifiers.org/clinvar/283340 ^@ NM_138694.3(PKHD1):c.8755C>T (p.His2919Tyr) http://identifiers.org/clinvar/283341 ^@ NM_000088.3(COL1A1):c.643-2A>G http://identifiers.org/clinvar/283342 ^@ NM_000088.3(COL1A1):c.2991delT (p.Gly998Valfs) http://identifiers.org/clinvar/283343 ^@ NM_054027.4(ANKH):c.1237G>A (p.Ala413Thr) http://identifiers.org/clinvar/283344 ^@ NM_001177317.1(SLC34A3):c.779G>A (p.Ser260Asn) http://identifiers.org/clinvar/283346 ^@ NM_004006.2(DMD):c.93+1G>A http://identifiers.org/clinvar/283347 ^@ NM_170784.2(MKKS):c.35G>A (p.Cys12Tyr) http://identifiers.org/clinvar/283348 ^@ NM_182734.2(PLCB1):c.2736A>G (p.Glu912=) http://identifiers.org/clinvar/283349 ^@ NM_005477.2(HCN4):c.1815G>A (p.Thr605=) http://identifiers.org/clinvar/283350 ^@ NM_172109.2(KCNQ2):c.1120T>C (p.Tyr374His) http://identifiers.org/clinvar/283351 ^@ NM_000026.3(ADSL):c.482+8A>G http://identifiers.org/clinvar/283352 ^@ NM_138694.3(PKHD1):c.10836T>C (p.Ala3612=) http://identifiers.org/clinvar/283353 ^@ NM_014141.5(CNTNAP2):c.1581C>T (p.Asp527=) http://identifiers.org/clinvar/283354 ^@ NM_020920.3(CHD8):c.456A>C (p.Ser152=) http://identifiers.org/clinvar/283355 ^@ NM_004530.5(MMP2):c.1444C>T (p.Arg482Cys) http://identifiers.org/clinvar/283356 ^@ NM_000088.3(COL1A1):c.3939C>A (p.Tyr1313Ter) http://identifiers.org/clinvar/283357 ^@ NM_002025.3(AFF2):c.1097A>G (p.His366Arg) http://identifiers.org/clinvar/283358 ^@ NM_033507.1(GCK):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/283359 ^@ NM_000209.3(PDX1):c.336C>G (p.Pro112=) http://identifiers.org/clinvar/283360 ^@ NM_001853.3(COL9A3):c.110C>T (p.Pro37Leu) http://identifiers.org/clinvar/283361 ^@ NM_001042465.2(PSAP):c.582T>C (p.Asn194=) http://identifiers.org/clinvar/283362 ^@ NM_000203.4(IDUA):c.1772C>T (p.Ala591Val) http://identifiers.org/clinvar/283363 ^@ NM_002076.3(GNS):c.21C>G (p.Ala7=) http://identifiers.org/clinvar/283364 ^@ NM_004994.2(MMP9):c.1414C>T (p.Pro472Ser) http://identifiers.org/clinvar/283365 ^@ NM_001015880.1(PAPSS2):c.375C>T (p.Phe125=) http://identifiers.org/clinvar/283366 ^@ NM_000142.4(FGFR3):c.150C>T (p.Val50=) http://identifiers.org/clinvar/283367 ^@ NM_012224.2(NEK1):c.3327G>A (p.Leu1109=) http://identifiers.org/clinvar/283368 ^@ NM_014714.3(IFT140):c.2787G>A (p.Thr929=) http://identifiers.org/clinvar/283369 ^@ NM_080605.3(B3GALT6):c.753G>A (p.Pro251=) http://identifiers.org/clinvar/283370 ^@ NM_001853.3(COL9A3):c.1461T>A (p.Gly487=) http://identifiers.org/clinvar/283371 ^@ NM_030665.3(RAI1):c.4981C>T (p.Arg1661Trp) http://identifiers.org/clinvar/283372 ^@ NM_004333.4(BRAF):c.1518-9T>G http://identifiers.org/clinvar/283373 ^@ NM_005249.4(FOXG1):c.1119G>A (p.Pro373=) http://identifiers.org/clinvar/283374 ^@ NM_004273.4(CHST3):c.1160G>A (p.Arg387His) http://identifiers.org/clinvar/283375 ^@ NM_001079515.2(TBCE):c.660+9_660+10delAT http://identifiers.org/clinvar/283376 ^@ NM_001844.4(COL2A1):c.3382G>C (p.Gly1128Arg) http://identifiers.org/clinvar/283377 ^@ NM_147127.4(EVC2):c.1471-6C>T http://identifiers.org/clinvar/283378 ^@ NM_052985.3(IFT122):c.770T>C (p.Ile257Thr) http://identifiers.org/clinvar/283379 ^@ NM_001844.4(COL2A1):c.1681-6A>G http://identifiers.org/clinvar/283380 ^@ NM_002310.5(LIFR):c.364A>G (p.Thr122Ala) http://identifiers.org/clinvar/283381 ^@ NM_000287.3(PEX6):c.1491C>T (p.Ser497=) http://identifiers.org/clinvar/283382 ^@ NM_020436.4(SALL4):c.24A>G (p.Lys8=) http://identifiers.org/clinvar/283383 ^@ NM_153427.2(PITX2):c.480A>T (p.Ser160=) http://identifiers.org/clinvar/283384 ^@ NM_001142800.1(EYS):c.4610_4611delGA (p.Arg1537Thrfs) http://identifiers.org/clinvar/283385 ^@ NM_001142800.1(EYS):c.9400delG (p.Val3134Phefs) http://identifiers.org/clinvar/283386 ^@ NM_001297.4(CNGB1):c.2990G>A (p.Arg997His) http://identifiers.org/clinvar/283387 ^@ NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) http://identifiers.org/clinvar/283388 ^@ NM_005183.3(CACNA1F):c.2237A>C (p.Asn746Thr) http://identifiers.org/clinvar/283389 ^@ NM_000286.2(PEX12):c.349A>G (p.Ile117Val) http://identifiers.org/clinvar/283390 ^@ NM_001267550.2(TTN):c.84271A>G (p.Ile28091Val) http://identifiers.org/clinvar/283391 ^@ NM_033071.3(SYNE1):c.3527A>T (p.Glu1176Val) http://identifiers.org/clinvar/283392 ^@ NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu) http://identifiers.org/clinvar/283393 ^@ NM_182914.2(SYNE2):c.990+10A>G http://identifiers.org/clinvar/283394 ^@ NM_201379.2(PLEC):c.8811C>A (p.Ile2937=) http://identifiers.org/clinvar/295146 ^@ NM_005216.4(DDOST):c.559G>A (p.Val187Ile) http://identifiers.org/clinvar/295147 ^@ NM_005216.4(DDOST):c.510T>G (p.His170Gln) http://identifiers.org/clinvar/295185 ^@ NM_006147.3(IRF6):c.*1265G>C http://identifiers.org/clinvar/295149 ^@ NM_005216.4(DDOST):c.450C>T (p.Asp150=) http://identifiers.org/clinvar/293982 ^@ NM_005562.2(LAMC2):c.-15C>T http://identifiers.org/clinvar/295202 ^@ NM_006147.3(IRF6):c.*342A>C http://identifiers.org/clinvar/293916 ^@ NM_002065.6(GLUL):c.*1289_*1291delATT http://identifiers.org/clinvar/293919 ^@ NM_002065.6(GLUL):c.*1058G>A http://identifiers.org/clinvar/295205 ^@ NM_006147.3(IRF6):c.*204C>T http://identifiers.org/clinvar/293923 ^@ NM_002065.6(GLUL):c.*966A>G http://identifiers.org/clinvar/293929 ^@ NM_002065.6(GLUL):c.*684dupA http://identifiers.org/clinvar/293983 ^@ NM_005562.2(LAMC2):c.-6C>A http://identifiers.org/clinvar/295208 ^@ NM_006147.3(IRF6):c.711C>T (p.Tyr237=) http://identifiers.org/clinvar/293990 ^@ NM_005562.2(LAMC2):c.371C>T (p.Thr124Met) http://identifiers.org/clinvar/295150 ^@ NM_005216.4(DDOST):c.435C>T (p.Cys145=) http://identifiers.org/clinvar/293996 ^@ NM_005562.2(LAMC2):c.739G>C (p.Asp247His) http://identifiers.org/clinvar/295211 ^@ NM_006147.3(IRF6):c.9C>T (p.Leu3=) http://identifiers.org/clinvar/295212 ^@ NM_006147.3(IRF6):c.-3-11G>C http://identifiers.org/clinvar/293930 ^@ NM_002065.6(GLUL):c.*496_*497delGA http://identifiers.org/clinvar/293931 ^@ NM_002065.6(GLUL):c.*481G>A http://identifiers.org/clinvar/293932 ^@ NM_002065.6(GLUL):c.*465A>G http://identifiers.org/clinvar/295157 ^@ NM_005216.4(DDOST):c.219G>A (p.Glu73=) http://identifiers.org/clinvar/295161 ^@ NM_005216.4(DDOST):c.117G>A (p.Ala39=) http://identifiers.org/clinvar/294968 ^@ NM_002389.4(CD46):c.276C>T (p.Asp92=) http://identifiers.org/clinvar/295218 ^@ NM_006147.3(IRF6):c.-299C>G http://identifiers.org/clinvar/295230 ^@ NM_183059.2(RD3):c.*1652C>T http://identifiers.org/clinvar/293998 ^@ NM_005562.2(LAMC2):c.884G>A (p.Arg295Gln) http://identifiers.org/clinvar/293999 ^@ NM_005562.2(LAMC2):c.954-15T>C http://identifiers.org/clinvar/295238 ^@ NM_183059.2(RD3):c.*1342T>G http://identifiers.org/clinvar/295241 ^@ NM_183059.2(RD3):c.*1305delA http://identifiers.org/clinvar/294003 ^@ NM_005562.2(LAMC2):c.1268C>A (p.Ala423Asp) http://identifiers.org/clinvar/294972 ^@ NM_002389.4(CD46):c.932C>T (p.Ala311Val) http://identifiers.org/clinvar/293934 ^@ NM_002065.6(GLUL):c.*342T>A http://identifiers.org/clinvar/293935 ^@ NM_002065.6(GLUL):c.*305C>T http://identifiers.org/clinvar/294975 ^@ NM_002389.4(CD46):c.1058C>T (p.Ala353Val) http://identifiers.org/clinvar/294016 ^@ NM_005562.2(LAMC2):c.3166G>A (p.Val1056Met) http://identifiers.org/clinvar/295245 ^@ NM_183059.2(RD3):c.*1108C>T http://identifiers.org/clinvar/293937 ^@ NM_002065.6(GLUL):c.*248dupG http://identifiers.org/clinvar/295252 ^@ NM_183059.2(RD3):c.*193G>C http://identifiers.org/clinvar/293943 ^@ NM_002065.6(GLUL):c.863A>G (p.Tyr288Cys) http://identifiers.org/clinvar/293945 ^@ NM_002065.6(GLUL):c.603+5G>A http://identifiers.org/clinvar/293946 ^@ NM_002065.6(GLUL):c.355C>T (p.Arg119Trp) http://identifiers.org/clinvar/295258 ^@ NM_183059.2(RD3):c.233G>A (p.Arg78Gln) http://identifiers.org/clinvar/293948 ^@ NM_002065.6(GLUL):c.238G>A (p.Val80Met) http://identifiers.org/clinvar/295261 ^@ NM_183059.2(RD3):c.-15+10A>C http://identifiers.org/clinvar/293952 ^@ NM_002065.6(GLUL):c.-188C>G http://identifiers.org/clinvar/293953 ^@ NM_002065.6(GLUL):c.-199A>G http://identifiers.org/clinvar/293960 ^@ NM_002065.6(GLUL):c.-343_-341delCAC http://identifiers.org/clinvar/295279 ^@ NM_183059.2(RD3):c.-297A>C http://identifiers.org/clinvar/294020 ^@ NM_005562.2(LAMC2):c.3411A>G (p.Gln1137=) http://identifiers.org/clinvar/295277 ^@ NM_183059.2(RD3):c.-305_-297delACACACACAinsC http://identifiers.org/clinvar/294021 ^@ NM_005562.2(LAMC2):c.3449G>A (p.Arg1150His) http://identifiers.org/clinvar/294978 ^@ NM_002389.4(CD46):c.*52G>A http://identifiers.org/clinvar/294981 ^@ NM_002389.4(CD46):c.*517T>A http://identifiers.org/clinvar/294983 ^@ NM_002389.4(CD46):c.*897T>C http://identifiers.org/clinvar/294984 ^@ NM_002389.4(CD46):c.*918G>A http://identifiers.org/clinvar/294985 ^@ NM_002389.4(CD46):c.*920A>G http://identifiers.org/clinvar/295280 ^@ NM_183059.2(RD3):c.-305A>C http://identifiers.org/clinvar/294022 ^@ NM_005562.2(LAMC2):c.3459G>A (p.Arg1153=) http://identifiers.org/clinvar/295281 ^@ NM_183059.2(RD3):c.-307A>C http://identifiers.org/clinvar/294025 ^@ NM_005562.2(LAMC2):c.*13T>G http://identifiers.org/clinvar/294026 ^@ NM_005562.2(LAMC2):c.*297C>A http://identifiers.org/clinvar/294030 ^@ NM_005562.2(LAMC2):c.*593A>G http://identifiers.org/clinvar/294031 ^@ NM_005562.2(LAMC2):c.*630C>G http://identifiers.org/clinvar/295282 ^@ NM_183059.2(RD3):c.-332C>T http://identifiers.org/clinvar/295285 ^@ NM_183059.2(RD3):c.-343_-340delGCAT http://identifiers.org/clinvar/294032 ^@ NM_005562.2(LAMC2):c.*746G>T http://identifiers.org/clinvar/294038 ^@ NM_005562.2(LAMC2):c.*986T>A http://identifiers.org/clinvar/294986 ^@ NM_002389.4(CD46):c.*968T>A http://identifiers.org/clinvar/295288 ^@ NM_183059.2(RD3):c.-358G>A http://identifiers.org/clinvar/294987 ^@ NM_002389.4(CD46):c.*1099A>G http://identifiers.org/clinvar/293966 ^@ NM_002065.6(GLUL):c.-486T>C http://identifiers.org/clinvar/295292 ^@ NM_183059.2(RD3):c.-505C>T http://identifiers.org/clinvar/295293 ^@ NM_183059.2(RD3):c.-539G>T http://identifiers.org/clinvar/295295 ^@ NM_183059.2(RD3):c.-572G>A http://identifiers.org/clinvar/293973 ^@ NM_005562.2(LAMC2):c.-277G>A http://identifiers.org/clinvar/293977 ^@ NM_005562.2(LAMC2):c.-183G>A http://identifiers.org/clinvar/294989 ^@ NM_002389.4(CD46):c.*1435T>C http://identifiers.org/clinvar/294990 ^@ NM_002389.4(CD46):c.*1498G>T http://identifiers.org/clinvar/294040 ^@ NM_005562.2(LAMC2):c.*1011T>C http://identifiers.org/clinvar/294041 ^@ NM_005562.2(LAMC2):c.*1037_*1038delAT http://identifiers.org/clinvar/293978 ^@ NM_005562.2(LAMC2):c.-140T>G http://identifiers.org/clinvar/295302 ^@ NM_183059.2(RD3):c.-1052C>A http://identifiers.org/clinvar/294042 ^@ NM_005562.2(LAMC2):c.*1053C>T http://identifiers.org/clinvar/294992 ^@ NM_002389.4(CD46):c.*1659A>G http://identifiers.org/clinvar/293987 ^@ NM_005562.2(LAMC2):c.269-15C>T http://identifiers.org/clinvar/294993 ^@ NM_002389.4(CD46):c.*1665G>A http://identifiers.org/clinvar/294995 ^@ NM_002389.4(CD46):c.*1888C>T http://identifiers.org/clinvar/294043 ^@ NM_005562.2(LAMC2):c.*1059G>A http://identifiers.org/clinvar/294048 ^@ NM_005562.2(LAMC2):c.*1199G>A http://identifiers.org/clinvar/295303 ^@ NM_183059.2(RD3):c.-1118A>T http://identifiers.org/clinvar/295060 ^@ NM_000228.2(LAMB3):c.3479A>G (p.His1160Arg) http://identifiers.org/clinvar/295304 ^@ NM_183059.2(RD3):c.-1120G>A http://identifiers.org/clinvar/295066 ^@ NM_000228.2(LAMB3):c.3211G>A (p.Ala1071Thr) http://identifiers.org/clinvar/295068 ^@ NM_000228.2(LAMB3):c.3154C>A (p.Gln1052Lys) http://identifiers.org/clinvar/295069 ^@ NM_000228.2(LAMB3):c.3151C>T (p.Arg1051Trp) http://identifiers.org/clinvar/293988 ^@ NM_005562.2(LAMC2):c.331G>C (p.Ala111Pro) http://identifiers.org/clinvar/295316 ^@ NM_014053.3(FLVCR1):c.611T>G (p.Met204Arg) http://identifiers.org/clinvar/294001 ^@ NM_005562.2(LAMC2):c.1066+12C>A http://identifiers.org/clinvar/295317 ^@ NM_014053.3(FLVCR1):c.738+9T>C http://identifiers.org/clinvar/294055 ^@ NM_005562.2(LAMC2):c.*1482A>G http://identifiers.org/clinvar/294058 ^@ NM_005562.2(LAMC2):c.*1647A>G http://identifiers.org/clinvar/294078 ^@ NM_000433.3(NCF2):c.1291-15C>G http://identifiers.org/clinvar/295072 ^@ NM_000228.2(LAMB3):c.3016C>T (p.Arg1006Cys) http://identifiers.org/clinvar/294083 ^@ NM_000433.3(NCF2):c.707T>C (p.Ile236Thr) http://identifiers.org/clinvar/294084 ^@ NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) http://identifiers.org/clinvar/295323 ^@ NM_014053.3(FLVCR1):c.1272T>C (p.Tyr424=) http://identifiers.org/clinvar/295324 ^@ NM_014053.3(FLVCR1):c.1521A>G (p.Leu507=) http://identifiers.org/clinvar/294002 ^@ NM_005562.2(LAMC2):c.1147A>G (p.Ile383Val) http://identifiers.org/clinvar/294004 ^@ NM_005562.2(LAMC2):c.1491T>G (p.Ala497=) http://identifiers.org/clinvar/294007 ^@ NM_005562.2(LAMC2):c.2081G>A (p.Arg694His) http://identifiers.org/clinvar/294086 ^@ NM_000433.3(NCF2):c.174+8G>C http://identifiers.org/clinvar/294087 ^@ NM_000433.3(NCF2):c.-240T>G http://identifiers.org/clinvar/294009 ^@ NM_005562.2(LAMC2):c.2570G>C (p.Arg857Pro) http://identifiers.org/clinvar/294018 ^@ NM_005562.2(LAMC2):c.3273T>G (p.Ala1091=) http://identifiers.org/clinvar/295074 ^@ NM_000228.2(LAMB3):c.2968G>A (p.Gly990Arg) http://identifiers.org/clinvar/294099 ^@ NM_031935.2(HMCN1):c.782G>A (p.Arg261His) http://identifiers.org/clinvar/295075 ^@ NM_000228.2(LAMB3):c.2933G>C (p.Gly978Ala) http://identifiers.org/clinvar/295331 ^@ NM_014053.3(FLVCR1):c.*284G>A http://identifiers.org/clinvar/295337 ^@ NM_014053.3(FLVCR1):c.*569C>G http://identifiers.org/clinvar/295085 ^@ NM_000228.2(LAMB3):c.2564C>G (p.Ala855Gly) http://identifiers.org/clinvar/295090 ^@ NM_000228.2(LAMB3):c.2447C>T (p.Ser816Phe) http://identifiers.org/clinvar/295094 ^@ NM_000228.2(LAMB3):c.2157C>T (p.Ser719=) http://identifiers.org/clinvar/294100 ^@ NM_031935.2(HMCN1):c.785A>G (p.Asn262Ser) http://identifiers.org/clinvar/294109 ^@ NM_031935.2(HMCN1):c.1480G>A (p.Glu494Lys) http://identifiers.org/clinvar/294019 ^@ NM_005562.2(LAMC2):c.3346G>T (p.Asp1116Tyr) http://identifiers.org/clinvar/294033 ^@ NM_005562.2(LAMC2):c.*749G>A http://identifiers.org/clinvar/295100 ^@ NM_000228.2(LAMB3):c.1670C>T (p.Pro557Leu) http://identifiers.org/clinvar/295340 ^@ NM_014053.3(FLVCR1):c.*673G>A http://identifiers.org/clinvar/295342 ^@ NM_014053.3(FLVCR1):c.*842_*843delCT http://identifiers.org/clinvar/295104 ^@ NM_000228.2(LAMB3):c.1592G>T (p.Cys531Phe) http://identifiers.org/clinvar/295105 ^@ NM_000228.2(LAMB3):c.1565G>A (p.Arg522Gln) http://identifiers.org/clinvar/295107 ^@ NM_000228.2(LAMB3):c.1536C>T (p.Ser512=) http://identifiers.org/clinvar/294120 ^@ NM_031935.2(HMCN1):c.2359C>G (p.Leu787Val) http://identifiers.org/clinvar/295347 ^@ NM_014053.3(FLVCR1):c.*855T>C http://identifiers.org/clinvar/294128 ^@ NM_031935.2(HMCN1):c.3166A>G (p.Thr1056Ala) http://identifiers.org/clinvar/295345 ^@ NM_014053.3(FLVCR1):c.*855delT http://identifiers.org/clinvar/294049 ^@ NM_005562.2(LAMC2):c.*1235G>C http://identifiers.org/clinvar/294057 ^@ NM_005562.2(LAMC2):c.*1637G>A http://identifiers.org/clinvar/294065 ^@ NM_000433.3(NCF2):c.*445A>C http://identifiers.org/clinvar/294134 ^@ NM_031935.2(HMCN1):c.3684C>T (p.Ile1228=) http://identifiers.org/clinvar/294069 ^@ NM_000433.3(NCF2):c.*393delA http://identifiers.org/clinvar/295344 ^@ NM_014053.3(FLVCR1):c.*855dupT http://identifiers.org/clinvar/294070 ^@ NM_000433.3(NCF2):c.*268_*269delAG http://identifiers.org/clinvar/295350 ^@ NM_014053.3(FLVCR1):c.*931C>T http://identifiers.org/clinvar/295109 ^@ NM_000228.2(LAMB3):c.1413G>A (p.Lys471=) http://identifiers.org/clinvar/295354 ^@ NM_014053.3(FLVCR1):c.*1300A>G http://identifiers.org/clinvar/295355 ^@ NM_014053.3(FLVCR1):c.*1317A>G http://identifiers.org/clinvar/294135 ^@ NM_031935.2(HMCN1):c.3695C>T (p.Thr1232Met) http://identifiers.org/clinvar/294140 ^@ NM_031935.2(HMCN1):c.4223A>C (p.Gln1408Pro) http://identifiers.org/clinvar/295357 ^@ NM_014053.3(FLVCR1):c.*1544A>G http://identifiers.org/clinvar/294153 ^@ NM_031935.2(HMCN1):c.4772G>A (p.Ser1591Asn) http://identifiers.org/clinvar/294157 ^@ NM_031935.2(HMCN1):c.4910-14A>G http://identifiers.org/clinvar/294156 ^@ NM_031935.2(HMCN1):c.4910-14_4910-13delAT http://identifiers.org/clinvar/294177 ^@ NM_031935.2(HMCN1):c.6981G>A (p.Met2327Ile) http://identifiers.org/clinvar/295363 ^@ NM_014053.3(FLVCR1):c.*1751C>T http://identifiers.org/clinvar/295367 ^@ NM_014053.3(FLVCR1):c.*1916_*1923delTAAATAAA http://identifiers.org/clinvar/294184 ^@ NM_031935.2(HMCN1):c.7307T>C (p.Leu2436Pro) http://identifiers.org/clinvar/294186 ^@ NM_031935.2(HMCN1):c.7371C>T (p.Cys2457=) http://identifiers.org/clinvar/294187 ^@ NM_031935.2(HMCN1):c.7494G>A (p.Thr2498=) http://identifiers.org/clinvar/294189 ^@ NM_031935.2(HMCN1):c.7589C>G (p.Ser2530Cys) http://identifiers.org/clinvar/295379 ^@ NM_014053.3(FLVCR1):c.*2218C>T http://identifiers.org/clinvar/294190 ^@ NM_031935.2(HMCN1):c.7652T>C (p.Leu2551Ser) http://identifiers.org/clinvar/294075 ^@ NM_000433.3(NCF2):c.1385T>G (p.Val462Gly) http://identifiers.org/clinvar/294192 ^@ NM_031935.2(HMCN1):c.8033G>C (p.Gly2678Ala) http://identifiers.org/clinvar/295382 ^@ NM_014053.3(FLVCR1):c.*2443C>T http://identifiers.org/clinvar/294198 ^@ NM_031935.2(HMCN1):c.8485+14C>T http://identifiers.org/clinvar/294199 ^@ NM_031935.2(HMCN1):c.8489G>A (p.Gly2830Glu) http://identifiers.org/clinvar/295385 ^@ NM_014053.3(FLVCR1):c.*2672_*2673delGT http://identifiers.org/clinvar/295386 ^@ NM_014053.3(FLVCR1):c.*2709T>C http://identifiers.org/clinvar/295123 ^@ NM_000228.2(LAMB3):c.927C>T (p.Asp309=) http://identifiers.org/clinvar/295393 ^@ NM_014053.3(FLVCR1):c.*3130_*3131insAATT http://identifiers.org/clinvar/295125 ^@ NM_000228.2(LAMB3):c.876C>T (p.Arg292=) http://identifiers.org/clinvar/295130 ^@ NM_000228.2(LAMB3):c.773G>A (p.Arg258His) http://identifiers.org/clinvar/295137 ^@ NM_000228.2(LAMB3):c.557G>A (p.Gly186Glu) http://identifiers.org/clinvar/295396 ^@ NM_014053.3(FLVCR1):c.*3228T>C http://identifiers.org/clinvar/295152 ^@ NM_000228.2(LAMB3):c.-53C>T http://identifiers.org/clinvar/295402 ^@ NM_014053.3(FLVCR1):c.*3598G>C http://identifiers.org/clinvar/295403 ^@ NM_014053.3(FLVCR1):c.*3739G>A http://identifiers.org/clinvar/295153 ^@ NM_000228.2(LAMB3):c.-55G>A http://identifiers.org/clinvar/294077 ^@ NM_000433.3(NCF2):c.1336G>T (p.Asp446Tyr) http://identifiers.org/clinvar/294200 ^@ NM_031935.2(HMCN1):c.8789T>C (p.Ile2930Thr) http://identifiers.org/clinvar/295169 ^@ NM_006147.3(IRF6):c.*2597G>A http://identifiers.org/clinvar/295171 ^@ NM_006147.3(IRF6):c.*2414G>A http://identifiers.org/clinvar/295174 ^@ NM_006147.3(IRF6):c.*2268C>T http://identifiers.org/clinvar/295176 ^@ NM_006147.3(IRF6):c.*2122T>C http://identifiers.org/clinvar/295540 ^@ NM_000478.5(ALPL):c.-81G>A http://identifiers.org/clinvar/295182 ^@ NM_006147.3(IRF6):c.*1511C>T http://identifiers.org/clinvar/295186 ^@ NM_006147.3(IRF6):c.*1246C>G http://identifiers.org/clinvar/295542 ^@ NM_000478.5(ALPL):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/295544 ^@ NM_000478.5(ALPL):c.534C>T (p.Tyr178=) http://identifiers.org/clinvar/295188 ^@ NM_006147.3(IRF6):c.*965G>A http://identifiers.org/clinvar/295194 ^@ NM_006147.3(IRF6):c.*665C>A http://identifiers.org/clinvar/295548 ^@ NM_000478.5(ALPL):c.1119C>T (p.Thr373=) http://identifiers.org/clinvar/295196 ^@ NM_006147.3(IRF6):c.*575T>A http://identifiers.org/clinvar/294080 ^@ NM_000433.3(NCF2):c.1184G>A (p.Arg395Gln) http://identifiers.org/clinvar/294201 ^@ NM_031935.2(HMCN1):c.8885-7A>G http://identifiers.org/clinvar/294206 ^@ NM_031935.2(HMCN1):c.9057T>A (p.Thr3019=) http://identifiers.org/clinvar/294216 ^@ NM_031935.2(HMCN1):c.9888-5C>T http://identifiers.org/clinvar/294090 ^@ NM_031935.2(HMCN1):c.-151C>A http://identifiers.org/clinvar/294225 ^@ NM_031935.2(HMCN1):c.11134C>T (p.Pro3712Ser) http://identifiers.org/clinvar/295551 ^@ NM_000478.5(ALPL):c.1329G>A (p.Ala443=) http://identifiers.org/clinvar/295552 ^@ NM_000478.5(ALPL):c.1381G>A (p.Val461Ile) http://identifiers.org/clinvar/294226 ^@ NM_031935.2(HMCN1):c.11191G>A (p.Val3731Ile) http://identifiers.org/clinvar/294227 ^@ NM_031935.2(HMCN1):c.11240G>C (p.Arg3747Thr) http://identifiers.org/clinvar/294228 ^@ NM_031935.2(HMCN1):c.11333C>T (p.Thr3778Ile) http://identifiers.org/clinvar/295197 ^@ NM_006147.3(IRF6):c.*558C>T http://identifiers.org/clinvar/295560 ^@ NM_000478.5(ALPL):c.*124delC http://identifiers.org/clinvar/295561 ^@ NM_000478.5(ALPL):c.*126A>G http://identifiers.org/clinvar/295200 ^@ NM_006147.3(IRF6):c.*411C>T http://identifiers.org/clinvar/295204 ^@ NM_006147.3(IRF6):c.*219_*220insCA http://identifiers.org/clinvar/295210 ^@ NM_006147.3(IRF6):c.390G>T (p.Gly130=) http://identifiers.org/clinvar/295563 ^@ NM_000478.5(ALPL):c.*233A>C http://identifiers.org/clinvar/295568 ^@ NM_000478.5(ALPL):c.*460G>A http://identifiers.org/clinvar/295214 ^@ NM_006147.3(IRF6):c.-73T>C http://identifiers.org/clinvar/295217 ^@ NM_006147.3(IRF6):c.-290C>T http://identifiers.org/clinvar/295570 ^@ NM_000478.5(ALPL):c.*480A>C http://identifiers.org/clinvar/295572 ^@ NM_000478.5(ALPL):c.*685A>T http://identifiers.org/clinvar/295571 ^@ NM_000478.5(ALPL):c.*694dupT http://identifiers.org/clinvar/294232 ^@ NM_031935.2(HMCN1):c.11687C>T (p.Pro3896Leu) http://identifiers.org/clinvar/295221 ^@ NM_183059.2(RD3):c.*2481A>T http://identifiers.org/clinvar/295223 ^@ NM_183059.2(RD3):c.*2317G>A http://identifiers.org/clinvar/294235 ^@ NM_031935.2(HMCN1):c.11905G>A (p.Ala3969Thr) http://identifiers.org/clinvar/294237 ^@ NM_031935.2(HMCN1):c.11938G>A (p.Val3980Met) http://identifiers.org/clinvar/294091 ^@ NM_031935.2(HMCN1):c.-87T>C http://identifiers.org/clinvar/294238 ^@ NM_031935.2(HMCN1):c.11953C>T (p.His3985Tyr) http://identifiers.org/clinvar/295407 ^@ NM_007123.5(USH2A):c.*1024T>C http://identifiers.org/clinvar/295408 ^@ NM_007123.5(USH2A):c.*937_*938delAT http://identifiers.org/clinvar/295224 ^@ NM_183059.2(RD3):c.*2311C>T http://identifiers.org/clinvar/295410 ^@ NM_007123.5(USH2A):c.*799C>T http://identifiers.org/clinvar/295415 ^@ NM_007123.5(USH2A):c.*548C>T http://identifiers.org/clinvar/295226 ^@ NM_183059.2(RD3):c.*2098G>A http://identifiers.org/clinvar/294097 ^@ NM_031935.2(HMCN1):c.602A>G (p.Asp201Gly) http://identifiers.org/clinvar/294103 ^@ NM_031935.2(HMCN1):c.959G>A (p.Arg320Gln) http://identifiers.org/clinvar/295242 ^@ NM_183059.2(RD3):c.*1287T>C http://identifiers.org/clinvar/295247 ^@ NM_183059.2(RD3):c.*738T>C http://identifiers.org/clinvar/294240 ^@ NM_031935.2(HMCN1):c.12043C>T (p.Pro4015Ser) http://identifiers.org/clinvar/295417 ^@ NM_007123.5(USH2A):c.*397A>G http://identifiers.org/clinvar/295419 ^@ NM_007123.5(USH2A):c.*267T>C http://identifiers.org/clinvar/294243 ^@ NM_031935.2(HMCN1):c.12159T>G (p.Ala4053=) http://identifiers.org/clinvar/294250 ^@ NM_031935.2(HMCN1):c.12536C>T (p.Thr4179Met) http://identifiers.org/clinvar/295265 ^@ NM_183059.2(RD3):c.-191G>A http://identifiers.org/clinvar/295421 ^@ NM_007123.5(USH2A):c.*131T>G http://identifiers.org/clinvar/295266 ^@ NM_183059.2(RD3):c.-192C>T http://identifiers.org/clinvar/294107 ^@ NM_031935.2(HMCN1):c.1338G>A (p.Pro446=) http://identifiers.org/clinvar/295424 ^@ NM_007123.5(USH2A):c.4366G>A (p.Ala1456Thr) http://identifiers.org/clinvar/295267 ^@ NM_183059.2(RD3):c.-204_-203insC http://identifiers.org/clinvar/294108 ^@ NM_031935.2(HMCN1):c.1406C>A (p.Thr469Lys) http://identifiers.org/clinvar/295278 ^@ NM_183059.2(RD3):c.-307_-297delACACACACACAinsC http://identifiers.org/clinvar/295284 ^@ NM_183059.2(RD3):c.-340_-339delTA http://identifiers.org/clinvar/294251 ^@ NM_031935.2(HMCN1):c.12771T>C (p.His4257=) http://identifiers.org/clinvar/295425 ^@ NM_007123.5(USH2A):c.4349T>C (p.Val1450Ala) http://identifiers.org/clinvar/295429 ^@ NM_007123.5(USH2A):c.3884G>A (p.Arg1295Gln) http://identifiers.org/clinvar/294253 ^@ NM_031935.2(HMCN1):c.12876A>G (p.Thr4292=) http://identifiers.org/clinvar/294257 ^@ NM_031935.2(HMCN1):c.12986C>T (p.Thr4329Ile) http://identifiers.org/clinvar/294258 ^@ NM_031935.2(HMCN1):c.12987C>T (p.Thr4329=) http://identifiers.org/clinvar/295434 ^@ NM_007123.5(USH2A):c.3317-14delT http://identifiers.org/clinvar/295435 ^@ NM_007123.5(USH2A):c.3177G>A (p.Pro1059=) http://identifiers.org/clinvar/295290 ^@ NM_183059.2(RD3):c.-495T>G http://identifiers.org/clinvar/295291 ^@ NM_183059.2(RD3):c.-504G>A http://identifiers.org/clinvar/295299 ^@ NM_183059.2(RD3):c.-884C>A http://identifiers.org/clinvar/294114 ^@ NM_031935.2(HMCN1):c.2098+12C>A http://identifiers.org/clinvar/295305 ^@ NM_183059.2(RD3):c.-1123T>C http://identifiers.org/clinvar/295306 ^@ NM_014053.3(FLVCR1):c.-181A>G http://identifiers.org/clinvar/295307 ^@ NM_014053.3(FLVCR1):c.-156delT http://identifiers.org/clinvar/295308 ^@ NM_014053.3(FLVCR1):c.-87G>A http://identifiers.org/clinvar/294264 ^@ NM_031935.2(HMCN1):c.13313G>A (p.Ser4438Asn) http://identifiers.org/clinvar/295436 ^@ NM_007123.5(USH2A):c.3157+12C>T http://identifiers.org/clinvar/295437 ^@ NM_007123.5(USH2A):c.2279A>G (p.Asn760Ser) http://identifiers.org/clinvar/295441 ^@ NM_007123.5(USH2A):c.1539C>T (p.Thr513=) http://identifiers.org/clinvar/295447 ^@ NM_007123.5(USH2A):c.486-15C>T http://identifiers.org/clinvar/294267 ^@ NM_031935.2(HMCN1):c.13637G>A (p.Gly4546Glu) http://identifiers.org/clinvar/294278 ^@ NM_031935.2(HMCN1):c.14649T>G (p.Ile4883Met) http://identifiers.org/clinvar/294279 ^@ NM_031935.2(HMCN1):c.14726G>A (p.Arg4909His) http://identifiers.org/clinvar/294115 ^@ NM_031935.2(HMCN1):c.2099-11G>A http://identifiers.org/clinvar/295449 ^@ NM_007123.5(USH2A):c.-159G>C http://identifiers.org/clinvar/294117 ^@ NM_031935.2(HMCN1):c.2126G>A (p.Ser709Asn) http://identifiers.org/clinvar/295309 ^@ NM_014053.3(FLVCR1):c.-86C>T http://identifiers.org/clinvar/295313 ^@ NM_014053.3(FLVCR1):c.385A>G (p.Ser129Gly) http://identifiers.org/clinvar/294121 ^@ NM_031935.2(HMCN1):c.2372-3C>T http://identifiers.org/clinvar/294283 ^@ NM_031935.2(HMCN1):c.15063C>T (p.Tyr5021=) http://identifiers.org/clinvar/294122 ^@ NM_031935.2(HMCN1):c.2385C>T (p.Phe795=) http://identifiers.org/clinvar/294125 ^@ NM_031935.2(HMCN1):c.2749A>C (p.Asn917His) http://identifiers.org/clinvar/294129 ^@ NM_031935.2(HMCN1):c.3278C>A (p.Ala1093Glu) http://identifiers.org/clinvar/294132 ^@ NM_031935.2(HMCN1):c.3524G>A (p.Arg1175His) http://identifiers.org/clinvar/295452 ^@ NM_007123.5(USH2A):c.-289C>T http://identifiers.org/clinvar/295314 ^@ NM_014053.3(FLVCR1):c.534G>C (p.Leu178=) http://identifiers.org/clinvar/295680 ^@ NM_005529.6(HSPG2):c.*992C>T http://identifiers.org/clinvar/295687 ^@ NM_005529.6(HSPG2):c.*599A>C http://identifiers.org/clinvar/295690 ^@ NM_005529.6(HSPG2):c.*208G>C http://identifiers.org/clinvar/294289 ^@ NM_031935.2(HMCN1):c.15393C>T (p.Ser5131=) http://identifiers.org/clinvar/294292 ^@ NM_031935.2(HMCN1):c.15440-13C>T http://identifiers.org/clinvar/295320 ^@ NM_014053.3(FLVCR1):c.962A>G (p.Tyr321Cys) http://identifiers.org/clinvar/295699 ^@ NM_005529.6(HSPG2):c.12994G>A (p.Val4332Ile) http://identifiers.org/clinvar/294133 ^@ NM_031935.2(HMCN1):c.3550G>T (p.Val1184Phe) http://identifiers.org/clinvar/295701 ^@ NM_005529.6(HSPG2):c.12952C>A (p.Arg4318=) http://identifiers.org/clinvar/295706 ^@ NM_005529.6(HSPG2):c.12353C>T (p.Thr4118Met) http://identifiers.org/clinvar/295708 ^@ NM_005529.6(HSPG2):c.12212C>T (p.Ala4071Val) http://identifiers.org/clinvar/294136 ^@ NM_031935.2(HMCN1):c.3740C>T (p.Ala1247Val) http://identifiers.org/clinvar/294137 ^@ NM_031935.2(HMCN1):c.3764C>T (p.Thr1255Met) http://identifiers.org/clinvar/294148 ^@ NM_031935.2(HMCN1):c.4475+9C>A http://identifiers.org/clinvar/294293 ^@ NM_031935.2(HMCN1):c.15460G>A (p.Gly5154Ser) http://identifiers.org/clinvar/295716 ^@ NM_005529.6(HSPG2):c.11601C>T (p.Tyr3867=) http://identifiers.org/clinvar/295718 ^@ NM_005529.6(HSPG2):c.11422C>T (p.Pro3808Ser) http://identifiers.org/clinvar/294297 ^@ NM_031935.2(HMCN1):c.15614G>A (p.Arg5205His) http://identifiers.org/clinvar/294303 ^@ NM_031935.2(HMCN1):c.16121G>A (p.Arg5374Gln) http://identifiers.org/clinvar/294315 ^@ NM_031935.2(HMCN1):c.*18A>G http://identifiers.org/clinvar/294316 ^@ NM_031935.2(HMCN1):c.*92A>G http://identifiers.org/clinvar/294152 ^@ NM_031935.2(HMCN1):c.4565G>A (p.Arg1522His) http://identifiers.org/clinvar/294317 ^@ NM_031935.2(HMCN1):c.*117dupA http://identifiers.org/clinvar/295721 ^@ NM_005529.6(HSPG2):c.11294G>A (p.Ser3765Asn) http://identifiers.org/clinvar/295321 ^@ NM_014053.3(FLVCR1):c.981C>T (p.Asn327=) http://identifiers.org/clinvar/294322 ^@ NM_031935.2(HMCN1):c.*665_*667delTAA http://identifiers.org/clinvar/295325 ^@ NM_014053.3(FLVCR1):c.1593+9T>C http://identifiers.org/clinvar/295332 ^@ NM_014053.3(FLVCR1):c.*339T>G http://identifiers.org/clinvar/295336 ^@ NM_014053.3(FLVCR1):c.*384T>C http://identifiers.org/clinvar/295339 ^@ NM_014053.3(FLVCR1):c.*657A>G http://identifiers.org/clinvar/294161 ^@ NM_031935.2(HMCN1):c.5669T>C (p.Leu1890Ser) http://identifiers.org/clinvar/295730 ^@ NM_005529.6(HSPG2):c.10831-15C>G http://identifiers.org/clinvar/295458 ^@ NM_001135599.3(TGFB2):c.-1153G>T http://identifiers.org/clinvar/295346 ^@ NM_014053.3(FLVCR1):c.*844T>C http://identifiers.org/clinvar/295351 ^@ NM_014053.3(FLVCR1):c.*1106C>T http://identifiers.org/clinvar/295359 ^@ NM_014053.3(FLVCR1):c.*1600G>A http://identifiers.org/clinvar/295366 ^@ NM_014053.3(FLVCR1):c.*1920_*1923delTAAA http://identifiers.org/clinvar/295369 ^@ NM_014053.3(FLVCR1):c.*1940G>A http://identifiers.org/clinvar/294162 ^@ NM_031935.2(HMCN1):c.5706C>T (p.Asn1902=) http://identifiers.org/clinvar/294330 ^@ NM_031935.2(HMCN1):c.*927T>C http://identifiers.org/clinvar/295461 ^@ NM_001135599.3(TGFB2):c.-784C= http://identifiers.org/clinvar/295375 ^@ NM_014053.3(FLVCR1):c.*2061_*2080dup20 http://identifiers.org/clinvar/295463 ^@ NM_001135599.3(TGFB2):c.-714A>C http://identifiers.org/clinvar/295376 ^@ NM_014053.3(FLVCR1):c.*2164G>A http://identifiers.org/clinvar/295380 ^@ NM_014053.3(FLVCR1):c.*2371A>G http://identifiers.org/clinvar/295398 ^@ NM_014053.3(FLVCR1):c.*3260T>C http://identifiers.org/clinvar/294336 ^@ NM_003748.3(ALDH4A1):c.*1198A>G http://identifiers.org/clinvar/295467 ^@ NM_001135599.3(TGFB2):c.-679G>A http://identifiers.org/clinvar/295399 ^@ NM_014053.3(FLVCR1):c.*3264T>C http://identifiers.org/clinvar/295469 ^@ NM_001135599.3(TGFB2):c.-663C>T http://identifiers.org/clinvar/295401 ^@ NM_014053.3(FLVCR1):c.*3482C>G http://identifiers.org/clinvar/295553 ^@ NM_000478.5(ALPL):c.1425C>T (p.His475=) http://identifiers.org/clinvar/295555 ^@ NM_000478.5(ALPL):c.1542G>A (p.Ala514=) http://identifiers.org/clinvar/294337 ^@ NM_003748.3(ALDH4A1):c.*1197C>G http://identifiers.org/clinvar/294165 ^@ NM_031935.2(HMCN1):c.5852-1G>A http://identifiers.org/clinvar/294340 ^@ NM_003748.3(ALDH4A1):c.*944C>T http://identifiers.org/clinvar/294343 ^@ NM_003748.3(ALDH4A1):c.*903C>T http://identifiers.org/clinvar/294169 ^@ NM_031935.2(HMCN1):c.6029-4T>C http://identifiers.org/clinvar/294178 ^@ NM_031935.2(HMCN1):c.6996C>G (p.Pro2332=) http://identifiers.org/clinvar/295557 ^@ NM_000478.5(ALPL):c.*65C>A http://identifiers.org/clinvar/294346 ^@ NM_003748.3(ALDH4A1):c.*712C>T http://identifiers.org/clinvar/295558 ^@ NM_000478.5(ALPL):c.*65C>T http://identifiers.org/clinvar/295473 ^@ NM_001135599.3(TGFB2):c.-622_-621dupAC http://identifiers.org/clinvar/295480 ^@ NM_001135599.3(TGFB2):c.-542C>T http://identifiers.org/clinvar/295559 ^@ NM_000478.5(ALPL):c.*66C>A http://identifiers.org/clinvar/295565 ^@ NM_000478.5(ALPL):c.*343C>T http://identifiers.org/clinvar/295573 ^@ NM_000478.5(ALPL):c.*697C>T http://identifiers.org/clinvar/294180 ^@ NM_031935.2(HMCN1):c.7048C>A (p.Leu2350Met) http://identifiers.org/clinvar/295482 ^@ NM_001135599.3(TGFB2):c.-288A>T http://identifiers.org/clinvar/295484 ^@ NM_001135599.3(TGFB2):c.-45delT http://identifiers.org/clinvar/294181 ^@ NM_031935.2(HMCN1):c.7079G>A (p.Arg2360His) http://identifiers.org/clinvar/295486 ^@ NM_001135599.3(TGFB2):c.52G>A (p.Ala18Thr) http://identifiers.org/clinvar/294347 ^@ NM_003748.3(ALDH4A1):c.*702C>T http://identifiers.org/clinvar/294185 ^@ NM_031935.2(HMCN1):c.7327C>T (p.Arg2443Trp) http://identifiers.org/clinvar/294349 ^@ NM_003748.3(ALDH4A1):c.*657delG http://identifiers.org/clinvar/295731 ^@ NM_005529.6(HSPG2):c.10677C>T (p.Asn3559=) http://identifiers.org/clinvar/295733 ^@ NM_005529.6(HSPG2):c.10617C>T (p.Val3539=) http://identifiers.org/clinvar/295574 ^@ NM_000478.5(ALPL):c.*752A>G http://identifiers.org/clinvar/295740 ^@ NM_005529.6(HSPG2):c.10272C>T (p.Pro3424=) http://identifiers.org/clinvar/295414 ^@ NM_007123.5(USH2A):c.*575C>A http://identifiers.org/clinvar/294191 ^@ NM_031935.2(HMCN1):c.7818C>T (p.Thr2606=) http://identifiers.org/clinvar/294353 ^@ NM_003748.3(ALDH4A1):c.*444T>C http://identifiers.org/clinvar/294359 ^@ NM_003748.3(ALDH4A1):c.*118G>A http://identifiers.org/clinvar/295746 ^@ NM_005529.6(HSPG2):c.10110G>A (p.Lys3370=) http://identifiers.org/clinvar/294367 ^@ NM_003748.3(ALDH4A1):c.1408G>A (p.Val470Ile) http://identifiers.org/clinvar/294369 ^@ NM_003748.3(ALDH4A1):c.1380T>C (p.Asp460=) http://identifiers.org/clinvar/295756 ^@ NM_005529.6(HSPG2):c.9564G>C (p.Gln3188His) http://identifiers.org/clinvar/295488 ^@ NM_001135599.3(TGFB2):c.594+41_594+43delGTT http://identifiers.org/clinvar/295759 ^@ NM_005529.6(HSPG2):c.9476G>A (p.Arg3159Gln) http://identifiers.org/clinvar/294378 ^@ NM_003748.3(ALDH4A1):c.1098G>A (p.Gly366=) http://identifiers.org/clinvar/295761 ^@ NM_005529.6(HSPG2):c.9329-8C>T http://identifiers.org/clinvar/295763 ^@ NM_005529.6(HSPG2):c.9175C>T (p.Arg3059Trp) http://identifiers.org/clinvar/294209 ^@ NM_031935.2(HMCN1):c.9406G>A (p.Ala3136Thr) http://identifiers.org/clinvar/294213 ^@ NM_031935.2(HMCN1):c.9546G>A (p.Thr3182=) http://identifiers.org/clinvar/294218 ^@ NM_031935.2(HMCN1):c.9942G>A (p.Thr3314=) http://identifiers.org/clinvar/295765 ^@ NM_005529.6(HSPG2):c.8939T>A (p.Leu2980His) http://identifiers.org/clinvar/295767 ^@ NM_005529.6(HSPG2):c.8899G>A (p.Ala2967Thr) http://identifiers.org/clinvar/295418 ^@ NM_007123.5(USH2A):c.*316A>G http://identifiers.org/clinvar/295420 ^@ NM_007123.5(USH2A):c.*147T>C http://identifiers.org/clinvar/295431 ^@ NM_007123.5(USH2A):c.3532C>G (p.Pro1178Ala) http://identifiers.org/clinvar/294231 ^@ NM_031935.2(HMCN1):c.11684-13G>A http://identifiers.org/clinvar/294384 ^@ NM_003748.3(ALDH4A1):c.678+3G>A http://identifiers.org/clinvar/294390 ^@ NM_003748.3(ALDH4A1):c.421G>A (p.Ala141Thr) http://identifiers.org/clinvar/295490 ^@ NM_001135599.3(TGFB2):c.673G>A (p.Glu225Lys) http://identifiers.org/clinvar/294392 ^@ NM_003748.3(ALDH4A1):c.369C>G (p.Asp123Glu) http://identifiers.org/clinvar/295771 ^@ NM_005529.6(HSPG2):c.8622C>T (p.His2874=) http://identifiers.org/clinvar/295433 ^@ NM_007123.5(USH2A):c.3320T>G (p.Ile1107Ser) http://identifiers.org/clinvar/294233 ^@ NM_031935.2(HMCN1):c.11722G>C (p.Val3908Leu) http://identifiers.org/clinvar/294234 ^@ NM_031935.2(HMCN1):c.11849-8A>C http://identifiers.org/clinvar/295500 ^@ NM_001135599.3(TGFB2):c.*589C>A http://identifiers.org/clinvar/295502 ^@ NM_001135599.3(TGFB2):c.*747A>C http://identifiers.org/clinvar/295440 ^@ NM_007123.5(USH2A):c.1789C>A (p.His597Asn) http://identifiers.org/clinvar/295505 ^@ NM_001135599.3(TGFB2):c.*799delT http://identifiers.org/clinvar/295446 ^@ NM_007123.5(USH2A):c.651+15A>G http://identifiers.org/clinvar/295453 ^@ NM_007123.5(USH2A):c.-289C>A http://identifiers.org/clinvar/295679 ^@ NM_005529.6(HSPG2):c.*1068C>T http://identifiers.org/clinvar/294244 ^@ NM_031935.2(HMCN1):c.12165T>G (p.Thr4055=) http://identifiers.org/clinvar/295681 ^@ NM_005529.6(HSPG2):c.*904G>A http://identifiers.org/clinvar/295682 ^@ NM_005529.6(HSPG2):c.*825G>C http://identifiers.org/clinvar/294393 ^@ NM_003748.3(ALDH4A1):c.135T>G (p.Pro45=) http://identifiers.org/clinvar/295684 ^@ NM_005529.6(HSPG2):c.*681C>T http://identifiers.org/clinvar/294394 ^@ NM_003748.3(ALDH4A1):c.102C>T (p.Asn34=) http://identifiers.org/clinvar/295509 ^@ NM_001135599.3(TGFB2):c.*1233dupT http://identifiers.org/clinvar/294396 ^@ NM_003748.3(ALDH4A1):c.-7A>G http://identifiers.org/clinvar/295689 ^@ NM_005529.6(HSPG2):c.*339C>A http://identifiers.org/clinvar/295514 ^@ NM_001135599.3(TGFB2):c.*1310C>T http://identifiers.org/clinvar/294398 ^@ NM_003748.3(ALDH4A1):c.-26G>T http://identifiers.org/clinvar/295515 ^@ NM_001135599.3(TGFB2):c.*1315T>G http://identifiers.org/clinvar/295521 ^@ NM_001135599.3(TGFB2):c.*1624T>A http://identifiers.org/clinvar/294252 ^@ NM_031935.2(HMCN1):c.12850A>G (p.Thr4284Ala) http://identifiers.org/clinvar/294254 ^@ NM_031935.2(HMCN1):c.12906C>T (p.Ala4302=) http://identifiers.org/clinvar/295522 ^@ NM_001135599.3(TGFB2):c.*1684G>C http://identifiers.org/clinvar/294255 ^@ NM_031935.2(HMCN1):c.12941T>C (p.Val4314Ala) http://identifiers.org/clinvar/294256 ^@ NM_031935.2(HMCN1):c.12963G>C (p.Glu4321Asp) http://identifiers.org/clinvar/294410 ^@ NM_024529.4(CDC73):c.156A>G (p.Arg52=) http://identifiers.org/clinvar/295523 ^@ NM_001135599.3(TGFB2):c.*2008G>A http://identifiers.org/clinvar/295691 ^@ NM_005529.6(HSPG2):c.*103G>A http://identifiers.org/clinvar/295693 ^@ NM_005529.6(HSPG2):c.13145C>A (p.Ala4382Asp) http://identifiers.org/clinvar/295694 ^@ NM_005529.6(HSPG2):c.13119C>T (p.Pro4373=) http://identifiers.org/clinvar/294418 ^@ NM_024529.4(CDC73):c.*463A>G http://identifiers.org/clinvar/295525 ^@ NM_001135599.3(TGFB2):c.*2089A>C http://identifiers.org/clinvar/294419 ^@ NM_024529.4(CDC73):c.*518A>G http://identifiers.org/clinvar/295703 ^@ NM_005529.6(HSPG2):c.12815+4G>A http://identifiers.org/clinvar/295527 ^@ NM_001135599.3(TGFB2):c.*2188T>C http://identifiers.org/clinvar/294260 ^@ NM_031935.2(HMCN1):c.13055A>G (p.Lys4352Arg) http://identifiers.org/clinvar/294265 ^@ NM_031935.2(HMCN1):c.13441T>A (p.Ser4481Thr) http://identifiers.org/clinvar/295705 ^@ NM_005529.6(HSPG2):c.12558C>T (p.Ser4186=) http://identifiers.org/clinvar/294271 ^@ NM_031935.2(HMCN1):c.13950G>C (p.Gln4650His) http://identifiers.org/clinvar/295707 ^@ NM_005529.6(HSPG2):c.12312T>C (p.Asp4104=) http://identifiers.org/clinvar/295531 ^@ NM_001135599.3(TGFB2):c.*2359_*2361delTTT http://identifiers.org/clinvar/295777 ^@ NM_005529.6(HSPG2):c.8287C>T (p.Arg2763Cys) http://identifiers.org/clinvar/294273 ^@ NM_031935.2(HMCN1):c.14311C>T (p.Arg4771Trp) http://identifiers.org/clinvar/294275 ^@ NM_031935.2(HMCN1):c.14562C>T (p.Pro4854=) http://identifiers.org/clinvar/294277 ^@ NM_031935.2(HMCN1):c.14609-6dupC http://identifiers.org/clinvar/294421 ^@ NM_024529.4(CDC73):c.*937G>A http://identifiers.org/clinvar/295785 ^@ NM_005529.6(HSPG2):c.7806C>A (p.Val2602=) http://identifiers.org/clinvar/295791 ^@ NM_005529.6(HSPG2):c.7411C>T (p.His2471Tyr) http://identifiers.org/clinvar/295792 ^@ NM_005529.6(HSPG2):c.7347C>G (p.Ala2449=) http://identifiers.org/clinvar/295797 ^@ NM_005529.6(HSPG2):c.7159-9T>A http://identifiers.org/clinvar/294422 ^@ NM_024529.4(CDC73):c.*956T>C http://identifiers.org/clinvar/294427 ^@ NM_024529.4(CDC73):c.*1083A>T http://identifiers.org/clinvar/294429 ^@ NM_024529.4(CDC73):c.*1144dupT http://identifiers.org/clinvar/294432 ^@ NM_024529.4(CDC73):c.*1267A>G http://identifiers.org/clinvar/295799 ^@ NM_005529.6(HSPG2):c.7107T>C (p.His2369=) http://identifiers.org/clinvar/294291 ^@ NM_031935.2(HMCN1):c.15439+14dupT http://identifiers.org/clinvar/295801 ^@ NM_005529.6(HSPG2):c.7035C>T (p.Ile2345=) http://identifiers.org/clinvar/295802 ^@ NM_005529.6(HSPG2):c.6966G>T (p.Thr2322=) http://identifiers.org/clinvar/295804 ^@ NM_005529.6(HSPG2):c.6927C>T (p.Tyr2309=) http://identifiers.org/clinvar/294294 ^@ NM_031935.2(HMCN1):c.15489C>T (p.Asp5163=) http://identifiers.org/clinvar/294301 ^@ NM_031935.2(HMCN1):c.16021T>C (p.Cys5341Arg) http://identifiers.org/clinvar/294302 ^@ NM_031935.2(HMCN1):c.16035_16037delACA (p.Gln5345del) http://identifiers.org/clinvar/295709 ^@ NM_005529.6(HSPG2):c.12072C>T (p.Asp4024=) http://identifiers.org/clinvar/295711 ^@ NM_005529.6(HSPG2):c.11827G>A (p.Ala3943Thr) http://identifiers.org/clinvar/294306 ^@ NM_031935.2(HMCN1):c.16573T>C (p.Leu5525=) http://identifiers.org/clinvar/294307 ^@ NM_031935.2(HMCN1):c.16623C>G (p.Leu5541=) http://identifiers.org/clinvar/295712 ^@ NM_005529.6(HSPG2):c.11826C>T (p.Pro3942=) http://identifiers.org/clinvar/295809 ^@ NM_005529.6(HSPG2):c.6648T>C (p.Tyr2216=) http://identifiers.org/clinvar/295720 ^@ NM_005529.6(HSPG2):c.11340T>C (p.Asn3780=) http://identifiers.org/clinvar/294309 ^@ NM_031935.2(HMCN1):c.16728G>A (p.Gln5576=) http://identifiers.org/clinvar/294434 ^@ NM_024529.4(CDC73):c.*1365T>C http://identifiers.org/clinvar/295722 ^@ NM_005529.6(HSPG2):c.11289G>A (p.Leu3763=) http://identifiers.org/clinvar/294311 ^@ NM_031935.2(HMCN1):c.16754A>C (p.Glu5585Ala) http://identifiers.org/clinvar/294435 ^@ NM_024529.4(CDC73):c.*1472T>G http://identifiers.org/clinvar/294442 ^@ NM_024529.4(CDC73):c.*1956T>C http://identifiers.org/clinvar/295811 ^@ NM_005529.6(HSPG2):c.6491C>T (p.Ala2164Val) http://identifiers.org/clinvar/294450 ^@ NM_024529.4(CDC73):c.*2446C>T http://identifiers.org/clinvar/295814 ^@ NM_005529.6(HSPG2):c.6141T>C (p.Asp2047=) http://identifiers.org/clinvar/294455 ^@ NM_024529.4(CDC73):c.*2962T>C http://identifiers.org/clinvar/294461 ^@ NM_024529.4(CDC73):c.*3409_*3410delTT http://identifiers.org/clinvar/294463 ^@ NM_024529.4(CDC73):c.*3507G>T http://identifiers.org/clinvar/295728 ^@ NM_005529.6(HSPG2):c.10863G>A (p.Leu3621=) http://identifiers.org/clinvar/295816 ^@ NM_005529.6(HSPG2):c.6105G>A (p.Gln2035=) http://identifiers.org/clinvar/295819 ^@ NM_005529.6(HSPG2):c.6010C>T (p.Arg2004Cys) http://identifiers.org/clinvar/294464 ^@ NM_024529.4(CDC73):c.*3524A>G http://identifiers.org/clinvar/294468 ^@ NM_024529.4(CDC73):c.*3785A>G http://identifiers.org/clinvar/294475 ^@ NM_000186.3(CFH):c.-124G>T http://identifiers.org/clinvar/294479 ^@ NM_000186.3(CFH):c.103G>A (p.Gly35Ser) http://identifiers.org/clinvar/294480 ^@ NM_000186.3(CFH):c.245-7G>A http://identifiers.org/clinvar/294483 ^@ NM_000186.3(CFH):c.350+9T>C http://identifiers.org/clinvar/295822 ^@ NM_005529.6(HSPG2):c.5916C>T (p.Thr1972=) http://identifiers.org/clinvar/295825 ^@ NM_005529.6(HSPG2):c.5756G>A (p.Arg1919His) http://identifiers.org/clinvar/295457 ^@ NM_001135599.3(TGFB2):c.-1271A>G http://identifiers.org/clinvar/295464 ^@ NM_001135599.3(TGFB2):c.-699A>C http://identifiers.org/clinvar/294486 ^@ NM_000186.3(CFH):c.477T>C (p.Ser159=) http://identifiers.org/clinvar/294487 ^@ NM_000186.3(CFH):c.770G>A (p.Arg257His) http://identifiers.org/clinvar/295826 ^@ NM_005529.6(HSPG2):c.5747G>A (p.Gly1916Asp) http://identifiers.org/clinvar/295831 ^@ NM_005529.6(HSPG2):c.5483G>T (p.Arg1828Leu) http://identifiers.org/clinvar/295838 ^@ NM_005529.6(HSPG2):c.4887G>A (p.Glu1629=) http://identifiers.org/clinvar/294488 ^@ NM_000186.3(CFH):c.921A>C (p.Ala307=) http://identifiers.org/clinvar/294494 ^@ NM_000186.3(CFH):c.1652T>C (p.Ile551Thr) http://identifiers.org/clinvar/294496 ^@ NM_000186.3(CFH):c.1935G>T (p.Thr645=) http://identifiers.org/clinvar/295856 ^@ NM_005529.6(HSPG2):c.3688G>A (p.Gly1230Ser) http://identifiers.org/clinvar/295465 ^@ NM_001135599.3(TGFB2):c.-683C>A http://identifiers.org/clinvar/295863 ^@ NM_005529.6(HSPG2):c.3360G>A (p.Ala1120=) http://identifiers.org/clinvar/294499 ^@ NM_000186.3(CFH):c.2196G>A (p.Thr732=) http://identifiers.org/clinvar/294502 ^@ NM_000186.3(CFH):c.2509G>A (p.Val837Ile) http://identifiers.org/clinvar/294504 ^@ NM_000186.3(CFH):c.2634C>T (p.His878=) http://identifiers.org/clinvar/294506 ^@ NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) http://identifiers.org/clinvar/294511 ^@ NM_000186.3(CFH):c.2867C>T (p.Thr956Met) http://identifiers.org/clinvar/294512 ^@ NM_000186.3(CFH):c.2957-7A>G http://identifiers.org/clinvar/294513 ^@ NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) http://identifiers.org/clinvar/295868 ^@ NM_005529.6(HSPG2):c.3132C>G (p.Ala1044=) http://identifiers.org/clinvar/295474 ^@ NM_001135599.3(TGFB2):c.-624_-621dupACAC http://identifiers.org/clinvar/295870 ^@ NM_005529.6(HSPG2):c.3100G>A (p.Gly1034Ser) http://identifiers.org/clinvar/295871 ^@ NM_005529.6(HSPG2):c.3003+14G>A http://identifiers.org/clinvar/294319 ^@ NM_031935.2(HMCN1):c.*327C>A http://identifiers.org/clinvar/294320 ^@ NM_031935.2(HMCN1):c.*396T>G http://identifiers.org/clinvar/294321 ^@ NM_031935.2(HMCN1):c.*422A>C http://identifiers.org/clinvar/295479 ^@ NM_001135599.3(TGFB2):c.-569T>C http://identifiers.org/clinvar/294521 ^@ NM_000186.3(CFH):c.3172T>C (p.Tyr1058His) http://identifiers.org/clinvar/295876 ^@ NM_005529.6(HSPG2):c.2614G>T (p.Val872Phe) http://identifiers.org/clinvar/295483 ^@ NM_001135599.3(TGFB2):c.-113_-110dupACAA http://identifiers.org/clinvar/295880 ^@ NM_005529.6(HSPG2):c.2335C>T (p.His779Tyr) http://identifiers.org/clinvar/294522 ^@ NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) http://identifiers.org/clinvar/294529 ^@ NM_000186.3(CFH):c.*178T>A http://identifiers.org/clinvar/294532 ^@ NM_030787.3(CFHR5):c.51G>A (p.Gly17=) http://identifiers.org/clinvar/295883 ^@ NM_005529.6(HSPG2):c.2092T>C (p.Tyr698His) http://identifiers.org/clinvar/295885 ^@ NM_005529.6(HSPG2):c.2023C>T (p.Arg675Trp) http://identifiers.org/clinvar/294533 ^@ NM_030787.3(CFHR5):c.120C>A (p.Asn40Lys) http://identifiers.org/clinvar/294537 ^@ NM_030787.3(CFHR5):c.330A>C (p.Val110=) http://identifiers.org/clinvar/295886 ^@ NM_005529.6(HSPG2):c.1999-13C>T http://identifiers.org/clinvar/294324 ^@ NM_031935.2(HMCN1):c.*768G>T http://identifiers.org/clinvar/295896 ^@ NM_005529.6(HSPG2):c.1238G>A (p.Arg413Gln) http://identifiers.org/clinvar/294326 ^@ NM_031935.2(HMCN1):c.*836dupT http://identifiers.org/clinvar/295898 ^@ NM_005529.6(HSPG2):c.1078+11G>A http://identifiers.org/clinvar/295735 ^@ NM_005529.6(HSPG2):c.10525G>A (p.Glu3509Lys) http://identifiers.org/clinvar/295737 ^@ NM_005529.6(HSPG2):c.10355+13G>A http://identifiers.org/clinvar/295899 ^@ NM_005529.6(HSPG2):c.960C>T (p.Gly320=) http://identifiers.org/clinvar/295900 ^@ NM_005529.6(HSPG2):c.959-7C>T http://identifiers.org/clinvar/294329 ^@ NM_031935.2(HMCN1):c.*902G>C http://identifiers.org/clinvar/294332 ^@ NM_031935.2(HMCN1):c.*982T>G http://identifiers.org/clinvar/294333 ^@ NM_003748.3(ALDH4A1):c.*1275A>C http://identifiers.org/clinvar/295744 ^@ NM_005529.6(HSPG2):c.10214C>T (p.Thr3405Met) http://identifiers.org/clinvar/295903 ^@ NM_005529.6(HSPG2):c.937G>A (p.Gly313Ser) http://identifiers.org/clinvar/295745 ^@ NM_005529.6(HSPG2):c.10204G>A (p.Val3402Met) http://identifiers.org/clinvar/295905 ^@ NM_005529.6(HSPG2):c.831C>T (p.Pro277=) http://identifiers.org/clinvar/294538 ^@ NM_030787.3(CFHR5):c.384G>T (p.Ser128=) http://identifiers.org/clinvar/295908 ^@ NM_005529.6(HSPG2):c.758C>G (p.Ser253Cys) http://identifiers.org/clinvar/294339 ^@ NM_003748.3(ALDH4A1):c.*1152G>T http://identifiers.org/clinvar/294345 ^@ NM_003748.3(ALDH4A1):c.*719C>T http://identifiers.org/clinvar/295751 ^@ NM_005529.6(HSPG2):c.9790A>G (p.Ile3264Val) http://identifiers.org/clinvar/295753 ^@ NM_005529.6(HSPG2):c.9766C>T (p.His3256Tyr) http://identifiers.org/clinvar/294357 ^@ NM_003748.3(ALDH4A1):c.*189G>A http://identifiers.org/clinvar/294362 ^@ NM_003748.3(ALDH4A1):c.*9C>T http://identifiers.org/clinvar/295489 ^@ NM_001135599.3(TGFB2):c.594+38_594+43delGTTGTT http://identifiers.org/clinvar/295911 ^@ NM_005529.6(HSPG2):c.468G>A (p.Ala156=) http://identifiers.org/clinvar/294545 ^@ NM_030787.3(CFHR5):c.647A>T (p.Asn216Ile) http://identifiers.org/clinvar/295915 ^@ NM_005529.6(HSPG2):c.199+14C>T http://identifiers.org/clinvar/295916 ^@ NM_005529.6(HSPG2):c.64-12G>A http://identifiers.org/clinvar/295587 ^@ NM_018713.2(SLC30A10):c.907G>A (p.Ala303Thr) http://identifiers.org/clinvar/294546 ^@ NM_030787.3(CFHR5):c.741G>T (p.Lys247Asn) http://identifiers.org/clinvar/294550 ^@ NM_030787.3(CFHR5):c.1560G>A (p.Gln520=) http://identifiers.org/clinvar/294558 ^@ NM_030787.3(CFHR5):c.*502C>T http://identifiers.org/clinvar/295589 ^@ NM_018713.2(SLC30A10):c.676A>G (p.Met226Val) http://identifiers.org/clinvar/295592 ^@ NM_018713.2(SLC30A10):c.440G>C (p.Gly147Ala) http://identifiers.org/clinvar/294365 ^@ NM_003748.3(ALDH4A1):c.1548C>T (p.Gly516=) http://identifiers.org/clinvar/294366 ^@ NM_003748.3(ALDH4A1):c.1417A>G (p.Thr473Ala) http://identifiers.org/clinvar/294371 ^@ NM_003748.3(ALDH4A1):c.1369G>A (p.Val457Ile) http://identifiers.org/clinvar/294563 ^@ NM_030787.3(CFHR5):c.*866G>A http://identifiers.org/clinvar/295593 ^@ NM_018713.2(SLC30A10):c.284C>T (p.Thr95Ile) http://identifiers.org/clinvar/294372 ^@ NM_003748.3(ALDH4A1):c.1261T>C (p.Cys421Arg) http://identifiers.org/clinvar/295594 ^@ NM_018713.2(SLC30A10):c.76C>G (p.Leu26Val) http://identifiers.org/clinvar/294374 ^@ NM_003748.3(ALDH4A1):c.1251C>T (p.Ala417=) http://identifiers.org/clinvar/294377 ^@ NM_003748.3(ALDH4A1):c.1162T>C (p.Phe388Leu) http://identifiers.org/clinvar/294379 ^@ NM_003748.3(ALDH4A1):c.1086G>C (p.Pro362=) http://identifiers.org/clinvar/295760 ^@ NM_005529.6(HSPG2):c.9329-7C>T http://identifiers.org/clinvar/295764 ^@ NM_005529.6(HSPG2):c.8983A>G (p.Ser2995Gly) http://identifiers.org/clinvar/294381 ^@ NM_003748.3(ALDH4A1):c.1073A>G (p.His358Arg) http://identifiers.org/clinvar/295600 ^@ NM_018713.2(SLC30A10):c.-87A>T http://identifiers.org/clinvar/295602 ^@ NM_012414.3(RAB3GAP2):c.*2923_*2925delCTT http://identifiers.org/clinvar/295607 ^@ NM_012414.3(RAB3GAP2):c.*2518A>G http://identifiers.org/clinvar/295611 ^@ NM_012414.3(RAB3GAP2):c.*2450G>T http://identifiers.org/clinvar/294567 ^@ NM_001994.2(F13B):c.*89G>C http://identifiers.org/clinvar/294571 ^@ NM_001994.2(F13B):c.1739-8_1739-6delGTT http://identifiers.org/clinvar/294573 ^@ NM_001994.2(F13B):c.1670A>G (p.His557Arg) http://identifiers.org/clinvar/294391 ^@ NM_003748.3(ALDH4A1):c.413C>T (p.Pro138Leu) http://identifiers.org/clinvar/295613 ^@ NM_012414.3(RAB3GAP2):c.*2347T>C http://identifiers.org/clinvar/295614 ^@ NM_012414.3(RAB3GAP2):c.*2338_*2339delAT http://identifiers.org/clinvar/294395 ^@ NM_003748.3(ALDH4A1):c.-4C>A http://identifiers.org/clinvar/294409 ^@ NM_024529.4(CDC73):c.-30C>T http://identifiers.org/clinvar/294413 ^@ NM_024529.4(CDC73):c.834C>T (p.Pro278=) http://identifiers.org/clinvar/294415 ^@ NM_024529.4(CDC73):c.1418-10C>G http://identifiers.org/clinvar/294417 ^@ NM_024529.4(CDC73):c.*453A>C http://identifiers.org/clinvar/294423 ^@ NM_024529.4(CDC73):c.*972A>G http://identifiers.org/clinvar/294426 ^@ NM_024529.4(CDC73):c.*1075A>G http://identifiers.org/clinvar/294581 ^@ NM_001994.2(F13B):c.1025T>C (p.Ile342Thr) http://identifiers.org/clinvar/295618 ^@ NM_012414.3(RAB3GAP2):c.*2098_*2101delAAAT http://identifiers.org/clinvar/294428 ^@ NM_024529.4(CDC73):c.*1092A>G http://identifiers.org/clinvar/294583 ^@ NM_001994.2(F13B):c.877C>T (p.Arg293Cys) http://identifiers.org/clinvar/295766 ^@ NM_005529.6(HSPG2):c.8903G>A (p.Arg2968Gln) http://identifiers.org/clinvar/294586 ^@ NM_001994.2(F13B):c.570G>A (p.Lys190=) http://identifiers.org/clinvar/295628 ^@ NM_012414.3(RAB3GAP2):c.*1143A>G http://identifiers.org/clinvar/295632 ^@ NM_012414.3(RAB3GAP2):c.*798_*799dupAA http://identifiers.org/clinvar/294430 ^@ NM_024529.4(CDC73):c.*1144delT http://identifiers.org/clinvar/294433 ^@ NM_024529.4(CDC73):c.*1303A>G http://identifiers.org/clinvar/294436 ^@ NM_024529.4(CDC73):c.*1499T>A http://identifiers.org/clinvar/294437 ^@ NM_024529.4(CDC73):c.*1599A>G http://identifiers.org/clinvar/294440 ^@ NM_024529.4(CDC73):c.*1833A>G http://identifiers.org/clinvar/294445 ^@ NM_024529.4(CDC73):c.*2085G>C http://identifiers.org/clinvar/295634 ^@ NM_012414.3(RAB3GAP2):c.*537G>C http://identifiers.org/clinvar/295638 ^@ NM_012414.3(RAB3GAP2):c.3978G>T (p.Glu1326Asp) http://identifiers.org/clinvar/295643 ^@ NM_012414.3(RAB3GAP2):c.3143A>G (p.His1048Arg) http://identifiers.org/clinvar/295648 ^@ NM_012414.3(RAB3GAP2):c.2527G>A (p.Val843Ile) http://identifiers.org/clinvar/294448 ^@ NM_024529.4(CDC73):c.*2420A>C http://identifiers.org/clinvar/294451 ^@ NM_024529.4(CDC73):c.*2455C>T http://identifiers.org/clinvar/295768 ^@ NM_005529.6(HSPG2):c.8848G>A (p.Gly2950Arg) http://identifiers.org/clinvar/295493 ^@ NM_001135599.3(TGFB2):c.1113C>T (p.Ala371=) http://identifiers.org/clinvar/295499 ^@ NM_001135599.3(TGFB2):c.*338_*343dupCAACAA http://identifiers.org/clinvar/295513 ^@ NM_001135599.3(TGFB2):c.*1273T>C http://identifiers.org/clinvar/295651 ^@ NM_012414.3(RAB3GAP2):c.2304G>A (p.Leu768=) http://identifiers.org/clinvar/295516 ^@ NM_001135599.3(TGFB2):c.*1338T>A http://identifiers.org/clinvar/295530 ^@ NM_001135599.3(TGFB2):c.*2360_*2361delTT http://identifiers.org/clinvar/295529 ^@ NM_001135599.3(TGFB2):c.*2361delT http://identifiers.org/clinvar/295532 ^@ NM_001135599.3(TGFB2):c.*2431C>G http://identifiers.org/clinvar/294453 ^@ NM_024529.4(CDC73):c.*2677G>A http://identifiers.org/clinvar/295657 ^@ NM_012414.3(RAB3GAP2):c.1709A>G (p.Asn570Ser) http://identifiers.org/clinvar/295664 ^@ NM_012414.3(RAB3GAP2):c.1069G>A (p.Glu357Lys) http://identifiers.org/clinvar/294587 ^@ NM_001994.2(F13B):c.354C>T (p.Cys118=) http://identifiers.org/clinvar/294588 ^@ NM_001994.2(F13B):c.-30T>A http://identifiers.org/clinvar/295535 ^@ NM_001135599.3(TGFB2):c.*2839G>A http://identifiers.org/clinvar/295673 ^@ NM_012414.3(RAB3GAP2):c.39C>T (p.Asp13=) http://identifiers.org/clinvar/295676 ^@ NM_012414.3(RAB3GAP2):c.-86T>C http://identifiers.org/clinvar/295538 ^@ NM_001135599.3(TGFB2):c.*3141A>G http://identifiers.org/clinvar/295539 ^@ NM_001135599.3(TGFB2):c.*3196C>T http://identifiers.org/clinvar/295775 ^@ NM_005529.6(HSPG2):c.8374G>A (p.Val2792Met) http://identifiers.org/clinvar/294454 ^@ NM_024529.4(CDC73):c.*2950A>G http://identifiers.org/clinvar/294590 ^@ NM_018136.4(ASPM):c.*82G>A http://identifiers.org/clinvar/294594 ^@ NM_018136.4(ASPM):c.10261C>A (p.Gln3421Lys) http://identifiers.org/clinvar/295780 ^@ NM_005529.6(HSPG2):c.8044C>T (p.Arg2682Trp) http://identifiers.org/clinvar/294600 ^@ NM_018136.4(ASPM):c.9540G>A (p.Gln3180=) http://identifiers.org/clinvar/294606 ^@ NM_018136.4(ASPM):c.8474_8476delTTT (p.Phe2825del) http://identifiers.org/clinvar/294617 ^@ NM_018136.4(ASPM):c.6711C>A (p.Asn2237Lys) http://identifiers.org/clinvar/294456 ^@ NM_024529.4(CDC73):c.*2963A>G http://identifiers.org/clinvar/294621 ^@ NM_018136.4(ASPM):c.5741A>G (p.Gln1914Arg) http://identifiers.org/clinvar/295678 ^@ NM_012414.3(RAB3GAP2):c.-132G>A http://identifiers.org/clinvar/295925 ^@ NM_002296.3(LBR):c.*656G>A http://identifiers.org/clinvar/295781 ^@ NM_005529.6(HSPG2):c.8026-5T>C http://identifiers.org/clinvar/295786 ^@ NM_005529.6(HSPG2):c.7751G>A (p.Arg2584Gln) http://identifiers.org/clinvar/294623 ^@ NM_018136.4(ASPM):c.5478A>C (p.Ile1826=) http://identifiers.org/clinvar/295926 ^@ NM_002296.3(LBR):c.*624T>A http://identifiers.org/clinvar/294625 ^@ NM_018136.4(ASPM):c.5138G>A (p.Arg1713His) http://identifiers.org/clinvar/294465 ^@ NM_024529.4(CDC73):c.*3542A>G http://identifiers.org/clinvar/295788 ^@ NM_005529.6(HSPG2):c.7610G>A (p.Arg2537His) http://identifiers.org/clinvar/294466 ^@ NM_024529.4(CDC73):c.*3641G>A http://identifiers.org/clinvar/295930 ^@ NM_002296.3(LBR):c.1670C>T (p.Ala557Val) http://identifiers.org/clinvar/295795 ^@ NM_005529.6(HSPG2):c.7191G>A (p.Ala2397=) http://identifiers.org/clinvar/294471 ^@ NM_024529.4(CDC73):c.*3791T>C http://identifiers.org/clinvar/295931 ^@ NM_002296.3(LBR):c.1590G>A (p.Thr530=) http://identifiers.org/clinvar/295937 ^@ NM_002296.3(LBR):c.959A>G (p.His320Arg) http://identifiers.org/clinvar/294484 ^@ NM_000186.3(CFH):c.428-14T>C http://identifiers.org/clinvar/294491 ^@ NM_000186.3(CFH):c.1419G>A (p.Ala473=) http://identifiers.org/clinvar/294495 ^@ NM_000186.3(CFH):c.1736T>C (p.Val579Ala) http://identifiers.org/clinvar/294500 ^@ NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) http://identifiers.org/clinvar/294627 ^@ NM_018136.4(ASPM):c.5098C>T (p.His1700Tyr) http://identifiers.org/clinvar/295938 ^@ NM_002296.3(LBR):c.951A>G (p.Val317=) http://identifiers.org/clinvar/294505 ^@ NM_000186.3(CFH):c.2637A>G (p.Gly879=) http://identifiers.org/clinvar/294507 ^@ NM_000186.3(CFH):c.2669G>T (p.Ser890Ile) http://identifiers.org/clinvar/294629 ^@ NM_018136.4(ASPM):c.4726A>G (p.Arg1576Gly) http://identifiers.org/clinvar/295798 ^@ NM_005529.6(HSPG2):c.7158+11G>A http://identifiers.org/clinvar/295945 ^@ NM_002296.3(LBR):c.607C>T (p.Arg203Trp) http://identifiers.org/clinvar/294514 ^@ NM_000186.3(CFH):c.3019G>T (p.Val1007Leu) http://identifiers.org/clinvar/294633 ^@ NM_018136.4(ASPM):c.3895A>G (p.Ile1299Val) http://identifiers.org/clinvar/295947 ^@ NM_002296.3(LBR):c.206C>T (p.Ser69Phe) http://identifiers.org/clinvar/295952 ^@ NM_002296.3(LBR):c.-39G>C http://identifiers.org/clinvar/294641 ^@ NM_018136.4(ASPM):c.2936+13A>G http://identifiers.org/clinvar/294642 ^@ NM_018136.4(ASPM):c.2640A>G (p.Glu880=) http://identifiers.org/clinvar/295957 ^@ NM_002296.3(LBR):c.-162G>A http://identifiers.org/clinvar/295962 ^@ NM_003240.4(LEFTY2):c.*496T>G http://identifiers.org/clinvar/294643 ^@ NM_018136.4(ASPM):c.2532C>T (p.Val844=) http://identifiers.org/clinvar/295805 ^@ NM_005529.6(HSPG2):c.6917C>T (p.Ala2306Val) http://identifiers.org/clinvar/294516 ^@ NM_000186.3(CFH):c.3102T>C (p.Asn1034=) http://identifiers.org/clinvar/294520 ^@ NM_000186.3(CFH):c.3148A>T (p.Asn1050Tyr) http://identifiers.org/clinvar/295972 ^@ NM_003240.4(LEFTY2):c.424C>G (p.Gln142Glu) http://identifiers.org/clinvar/294645 ^@ NM_018136.4(ASPM):c.2419+6A>T http://identifiers.org/clinvar/295975 ^@ NM_003240.4(LEFTY2):c.214C>T (p.Arg72Cys) http://identifiers.org/clinvar/295984 ^@ NM_000447.2(PSEN2):c.-144A>G http://identifiers.org/clinvar/295987 ^@ NM_000447.2(PSEN2):c.38T>C (p.Val13Ala) http://identifiers.org/clinvar/295810 ^@ NM_005529.6(HSPG2):c.6552G>A (p.Thr2184=) http://identifiers.org/clinvar/295820 ^@ NM_005529.6(HSPG2):c.5998-7A>G http://identifiers.org/clinvar/295823 ^@ NM_005529.6(HSPG2):c.5899G>A (p.Val1967Ile) http://identifiers.org/clinvar/295988 ^@ NM_000447.2(PSEN2):c.222C>G (p.Gly74=) http://identifiers.org/clinvar/294526 ^@ NM_000186.3(CFH):c.3643C>T (p.Arg1215Ter) http://identifiers.org/clinvar/295827 ^@ NM_005529.6(HSPG2):c.5742C>T (p.His1914=) http://identifiers.org/clinvar/294528 ^@ NM_000186.3(CFH):c.*98C>T http://identifiers.org/clinvar/295994 ^@ NM_000447.2(PSEN2):c.954C>T (p.Pro318=) http://identifiers.org/clinvar/296002 ^@ NM_000447.2(PSEN2):c.*306G>A http://identifiers.org/clinvar/294534 ^@ NM_030787.3(CFHR5):c.243G>A (p.Pro81=) http://identifiers.org/clinvar/294535 ^@ NM_030787.3(CFHR5):c.254-8T>G http://identifiers.org/clinvar/294536 ^@ NM_030787.3(CFHR5):c.329T>C (p.Val110Ala) http://identifiers.org/clinvar/294649 ^@ NM_018136.4(ASPM):c.2135C>A (p.Thr712Asn) http://identifiers.org/clinvar/296004 ^@ NM_000447.2(PSEN2):c.*405G>T http://identifiers.org/clinvar/294650 ^@ NM_018136.4(ASPM):c.1921+13T>G http://identifiers.org/clinvar/295832 ^@ NM_005529.6(HSPG2):c.5433C>T (p.Asn1811=) http://identifiers.org/clinvar/294544 ^@ NM_030787.3(CFHR5):c.647A>G (p.Asn216Ser) http://identifiers.org/clinvar/294651 ^@ NM_018136.4(ASPM):c.1825C>G (p.Pro609Ala) http://identifiers.org/clinvar/296010 ^@ NM_020247.4(COQ8A):c.427G>A (p.Gly143Arg) http://identifiers.org/clinvar/296013 ^@ NM_020247.4(COQ8A):c.719A>C (p.Glu240Ala) http://identifiers.org/clinvar/294548 ^@ NM_030787.3(CFHR5):c.903T>C (p.Tyr301=) http://identifiers.org/clinvar/295833 ^@ NM_005529.6(HSPG2):c.5381C>T (p.Thr1794Ile) http://identifiers.org/clinvar/296016 ^@ NM_020247.4(COQ8A):c.1060G>A (p.Glu354Lys) http://identifiers.org/clinvar/296020 ^@ NM_020247.4(COQ8A):c.1258G>A (p.Asp420Asn) http://identifiers.org/clinvar/296027 ^@ NM_020247.4(COQ8A):c.1713C>A (p.Ala571=) http://identifiers.org/clinvar/295836 ^@ NM_005529.6(HSPG2):c.4903G>A (p.Gly1635Arg) http://identifiers.org/clinvar/295846 ^@ NM_005529.6(HSPG2):c.4409G>A (p.Arg1470Gln) http://identifiers.org/clinvar/295847 ^@ NM_005529.6(HSPG2):c.4299C>T (p.Pro1433=) http://identifiers.org/clinvar/296033 ^@ NM_020247.4(COQ8A):c.*184G>C http://identifiers.org/clinvar/295852 ^@ NM_005529.6(HSPG2):c.3889-10G>A http://identifiers.org/clinvar/296041 ^@ NM_020247.4(COQ8A):c.*570T>C http://identifiers.org/clinvar/296046 ^@ NM_020247.4(COQ8A):c.*693G>T http://identifiers.org/clinvar/296049 ^@ NM_020247.4(COQ8A):c.*790A>G http://identifiers.org/clinvar/294652 ^@ NM_018136.4(ASPM):c.1681G>A (p.Glu561Lys) http://identifiers.org/clinvar/294654 ^@ NM_018136.4(ASPM):c.1310G>A (p.Arg437His) http://identifiers.org/clinvar/294659 ^@ NM_018136.4(ASPM):c.-10C>G http://identifiers.org/clinvar/294662 ^@ NM_018136.4(ASPM):c.-177G>A http://identifiers.org/clinvar/296051 ^@ NM_001100.3(ACTA1):c.1113C>G (p.Ile371Met) http://identifiers.org/clinvar/296056 ^@ NM_001100.3(ACTA1):c.549G>A (p.Ala183=) http://identifiers.org/clinvar/296062 ^@ NM_001100.3(ACTA1):c.-66C>T http://identifiers.org/clinvar/296064 ^@ NM_000029.3(AGT):c.*514G>A http://identifiers.org/clinvar/296067 ^@ NM_000029.3(AGT):c.*423T>G http://identifiers.org/clinvar/294553 ^@ NM_030787.3(CFHR5):c.*237T>C http://identifiers.org/clinvar/294555 ^@ NM_030787.3(CFHR5):c.*362A>G http://identifiers.org/clinvar/296071 ^@ NM_000029.3(AGT):c.*83G>A http://identifiers.org/clinvar/296073 ^@ NM_000029.3(AGT):c.1325C>T (p.Ser442Phe) http://identifiers.org/clinvar/294557 ^@ NM_030787.3(CFHR5):c.*426_*427delGA http://identifiers.org/clinvar/294560 ^@ NM_030787.3(CFHR5):c.*741T>G http://identifiers.org/clinvar/295853 ^@ NM_005529.6(HSPG2):c.3794-3C>A http://identifiers.org/clinvar/296075 ^@ NM_000029.3(AGT):c.1154T>C (p.Val385Ala) http://identifiers.org/clinvar/295857 ^@ NM_005529.6(HSPG2):c.3649G>C (p.Ala1217Pro) http://identifiers.org/clinvar/296078 ^@ NM_000029.3(AGT):c.891C>T (p.Pro297=) http://identifiers.org/clinvar/296085 ^@ NM_000029.3(AGT):c.327G>A (p.Leu109=) http://identifiers.org/clinvar/296096 ^@ NM_000029.3(AGT):c.-222G>A http://identifiers.org/clinvar/294564 ^@ NM_030787.3(CFHR5):c.*966G>A http://identifiers.org/clinvar/294670 ^@ NM_201253.2(CRB1):c.1172-12A>G http://identifiers.org/clinvar/295861 ^@ NM_005529.6(HSPG2):c.3556C>T (p.Arg1186Trp) http://identifiers.org/clinvar/295864 ^@ NM_005529.6(HSPG2):c.3302+13G>A http://identifiers.org/clinvar/295873 ^@ NM_005529.6(HSPG2):c.2896G>A (p.Glu966Lys) http://identifiers.org/clinvar/294579 ^@ NM_001994.2(F13B):c.1089A>C (p.Ala363=) http://identifiers.org/clinvar/295877 ^@ NM_005529.6(HSPG2):c.2596G>A (p.Gly866Ser) http://identifiers.org/clinvar/294592 ^@ NM_018136.4(ASPM):c.10416G>A (p.Thr3472=) http://identifiers.org/clinvar/294675 ^@ NM_201253.2(CRB1):c.2225T>C (p.Phe742Ser) http://identifiers.org/clinvar/294598 ^@ NM_018136.4(ASPM):c.9932C>T (p.Pro3311Leu) http://identifiers.org/clinvar/296097 ^@ NM_000029.3(AGT):c.-255G>A http://identifiers.org/clinvar/294604 ^@ NM_018136.4(ASPM):c.8804G>A (p.Ser2935Asn) http://identifiers.org/clinvar/294676 ^@ NM_201253.2(CRB1):c.2230C>A (p.Arg744=) http://identifiers.org/clinvar/294682 ^@ NM_201253.2(CRB1):c.2843-13C>T http://identifiers.org/clinvar/295887 ^@ NM_005529.6(HSPG2):c.1912A>G (p.Met638Val) http://identifiers.org/clinvar/296104 ^@ NM_014236.3(GNPAT):c.-121C>T http://identifiers.org/clinvar/296109 ^@ NM_014236.3(GNPAT):c.-6C>T http://identifiers.org/clinvar/295888 ^@ NM_005529.6(HSPG2):c.1776C>T (p.His592=) http://identifiers.org/clinvar/295891 ^@ NM_005529.6(HSPG2):c.1546G>A (p.Ala516Thr) http://identifiers.org/clinvar/296111 ^@ NM_014236.3(GNPAT):c.278T>G (p.Leu93Arg) http://identifiers.org/clinvar/296116 ^@ NM_014236.3(GNPAT):c.798A>G (p.Pro266=) http://identifiers.org/clinvar/295894 ^@ NM_005529.6(HSPG2):c.1399C>T (p.Arg467Cys) http://identifiers.org/clinvar/294683 ^@ NM_201253.2(CRB1):c.2863A>C (p.Asn955His) http://identifiers.org/clinvar/296119 ^@ NM_014236.3(GNPAT):c.1031G>A (p.Arg344Gln) http://identifiers.org/clinvar/294607 ^@ NM_018136.4(ASPM):c.8294A>C (p.Lys2765Thr) http://identifiers.org/clinvar/296120 ^@ NM_014236.3(GNPAT):c.1043A>G (p.Asn348Ser) http://identifiers.org/clinvar/294609 ^@ NM_018136.4(ASPM):c.7878G>A (p.Gln2626=) http://identifiers.org/clinvar/295895 ^@ NM_005529.6(HSPG2):c.1376G>T (p.Gly459Val) http://identifiers.org/clinvar/294686 ^@ NM_201253.2(CRB1):c.3228T>C (p.Asp1076=) http://identifiers.org/clinvar/295909 ^@ NM_005529.6(HSPG2):c.744T>C (p.Leu248=) http://identifiers.org/clinvar/294687 ^@ NM_201253.2(CRB1):c.3397G>A (p.Val1133Met) http://identifiers.org/clinvar/294701 ^@ NM_000069.2(CACNA1S):c.*109G>T http://identifiers.org/clinvar/294610 ^@ NM_018136.4(ASPM):c.7853A>G (p.Lys2618Arg) http://identifiers.org/clinvar/294704 ^@ NM_000069.2(CACNA1S):c.5554G>A (p.Gly1852Arg) http://identifiers.org/clinvar/296123 ^@ NM_014236.3(GNPAT):c.1280-8G>A http://identifiers.org/clinvar/294706 ^@ NM_000069.2(CACNA1S):c.5510A>C (p.Glu1837Ala) http://identifiers.org/clinvar/296125 ^@ NM_014236.3(GNPAT):c.1308G>A (p.Pro436=) http://identifiers.org/clinvar/295580 ^@ NM_018713.2(SLC30A10):c.*276C>T http://identifiers.org/clinvar/294712 ^@ NM_000069.2(CACNA1S):c.4776G>A (p.Ala1592=) http://identifiers.org/clinvar/294611 ^@ NM_018136.4(ASPM):c.7757A>G (p.Lys2586Arg) http://identifiers.org/clinvar/296126 ^@ NM_014236.3(GNPAT):c.1424T>C (p.Leu475Pro) http://identifiers.org/clinvar/294613 ^@ NM_018136.4(ASPM):c.6965A>C (p.Tyr2322Ser) http://identifiers.org/clinvar/294618 ^@ NM_018136.4(ASPM):c.6551G>A (p.Arg2184Gln) http://identifiers.org/clinvar/295595 ^@ NM_018713.2(SLC30A10):c.-19G>A http://identifiers.org/clinvar/296127 ^@ NM_014236.3(GNPAT):c.1453C>T (p.Leu485=) http://identifiers.org/clinvar/295599 ^@ NM_018713.2(SLC30A10):c.-70C>T http://identifiers.org/clinvar/296130 ^@ NM_014236.3(GNPAT):c.1488A>G (p.Ala496=) http://identifiers.org/clinvar/296137 ^@ NM_014236.3(GNPAT):c.2023C>T (p.Pro675Ser) http://identifiers.org/clinvar/294620 ^@ NM_018136.4(ASPM):c.5742G>T (p.Gln1914His) http://identifiers.org/clinvar/294716 ^@ NM_000069.2(CACNA1S):c.4462G>A (p.Glu1488Lys) http://identifiers.org/clinvar/295604 ^@ NM_012414.3(RAB3GAP2):c.*2643T>C http://identifiers.org/clinvar/295605 ^@ NM_012414.3(RAB3GAP2):c.*2551_*2552delTA http://identifiers.org/clinvar/296140 ^@ NM_014236.3(GNPAT):c.*195C>T http://identifiers.org/clinvar/295609 ^@ NM_012414.3(RAB3GAP2):c.*2512delA http://identifiers.org/clinvar/295616 ^@ NM_012414.3(RAB3GAP2):c.*2210G>C http://identifiers.org/clinvar/296142 ^@ NM_022051.2(EGLN1):c.*2598G>A http://identifiers.org/clinvar/295617 ^@ NM_012414.3(RAB3GAP2):c.*2102C>A http://identifiers.org/clinvar/295619 ^@ NM_012414.3(RAB3GAP2):c.*2043G>A http://identifiers.org/clinvar/295622 ^@ NM_012414.3(RAB3GAP2):c.*1470G>A http://identifiers.org/clinvar/296144 ^@ NM_022051.2(EGLN1):c.*2416_*2419delTTGT http://identifiers.org/clinvar/294628 ^@ NM_018136.4(ASPM):c.4730T>A (p.Val1577Asp) http://identifiers.org/clinvar/294718 ^@ NM_000069.2(CACNA1S):c.4437G>A (p.Thr1479=) http://identifiers.org/clinvar/295629 ^@ NM_012414.3(RAB3GAP2):c.*1130A>G http://identifiers.org/clinvar/294719 ^@ NM_000069.2(CACNA1S):c.4350C>G (p.Gly1450=) http://identifiers.org/clinvar/296145 ^@ NM_022051.2(EGLN1):c.*2235C>G http://identifiers.org/clinvar/296147 ^@ NM_022051.2(EGLN1):c.*2061C>G http://identifiers.org/clinvar/295633 ^@ NM_012414.3(RAB3GAP2):c.*645C>T http://identifiers.org/clinvar/295649 ^@ NM_012414.3(RAB3GAP2):c.2454C>G (p.Ser818=) http://identifiers.org/clinvar/295652 ^@ NM_012414.3(RAB3GAP2):c.2168T>A (p.Val723Glu) http://identifiers.org/clinvar/295654 ^@ NM_012414.3(RAB3GAP2):c.1999-16_1999-12delGTTTT http://identifiers.org/clinvar/296148 ^@ NM_022051.2(EGLN1):c.*2044G>A http://identifiers.org/clinvar/296150 ^@ NM_022051.2(EGLN1):c.*1965A>G http://identifiers.org/clinvar/295661 ^@ NM_012414.3(RAB3GAP2):c.1205C>G (p.Thr402Arg) http://identifiers.org/clinvar/294632 ^@ NM_018136.4(ASPM):c.4053A>C (p.Ala1351=) http://identifiers.org/clinvar/294720 ^@ NM_000069.2(CACNA1S):c.4346T>G (p.Val1449Gly) http://identifiers.org/clinvar/294722 ^@ NM_000069.2(CACNA1S):c.4061C>T (p.Thr1354Ile) http://identifiers.org/clinvar/294637 ^@ NM_018136.4(ASPM):c.3599-7A>G http://identifiers.org/clinvar/294646 ^@ NM_018136.4(ASPM):c.2267A>G (p.Tyr756Cys) http://identifiers.org/clinvar/294723 ^@ NM_000069.2(CACNA1S):c.4053A>G (p.Thr1351=) http://identifiers.org/clinvar/294725 ^@ NM_000069.2(CACNA1S):c.3904C>T (p.Arg1302Trp) http://identifiers.org/clinvar/294648 ^@ NM_018136.4(ASPM):c.2173+6C>T http://identifiers.org/clinvar/294656 ^@ NM_018136.4(ASPM):c.1184A>G (p.Gln395Arg) http://identifiers.org/clinvar/294664 ^@ NM_018136.4(ASPM):c.-214T>C http://identifiers.org/clinvar/294730 ^@ NM_000069.2(CACNA1S):c.3606C>T (p.Ile1202=) http://identifiers.org/clinvar/294734 ^@ NM_000069.2(CACNA1S):c.2994C>A (p.Asp998Glu) http://identifiers.org/clinvar/296154 ^@ NM_022051.2(EGLN1):c.*1802_*1803dupAA http://identifiers.org/clinvar/296158 ^@ NM_022051.2(EGLN1):c.*1434_*1436delCTT http://identifiers.org/clinvar/294665 ^@ NM_201253.2(CRB1):c.-204C>T http://identifiers.org/clinvar/294667 ^@ NM_201253.2(CRB1):c.371T>A (p.Ile124Asn) http://identifiers.org/clinvar/294668 ^@ NM_201253.2(CRB1):c.664G>A (p.Glu222Lys) http://identifiers.org/clinvar/294671 ^@ NM_201253.2(CRB1):c.1507A>G (p.Thr503Ala) http://identifiers.org/clinvar/296165 ^@ NM_022051.2(EGLN1):c.*1010C>T http://identifiers.org/clinvar/294672 ^@ NM_201253.2(CRB1):c.1752C>T (p.Asp584=) http://identifiers.org/clinvar/294746 ^@ NM_000069.2(CACNA1S):c.2419C>T (p.Leu807Phe) http://identifiers.org/clinvar/295668 ^@ NM_012414.3(RAB3GAP2):c.613-14delT http://identifiers.org/clinvar/295667 ^@ NM_012414.3(RAB3GAP2):c.613-14dupT http://identifiers.org/clinvar/295669 ^@ NM_012414.3(RAB3GAP2):c.612+15T>C http://identifiers.org/clinvar/296172 ^@ NM_022051.2(EGLN1):c.*663C>T http://identifiers.org/clinvar/296176 ^@ NM_022051.2(EGLN1):c.*555_*559delAAAAG http://identifiers.org/clinvar/294673 ^@ NM_201253.2(CRB1):c.2010T>C (p.Cys670=) http://identifiers.org/clinvar/294677 ^@ NM_201253.2(CRB1):c.2307C>T (p.Arg769=) http://identifiers.org/clinvar/296183 ^@ NM_022051.2(EGLN1):c.1272C>T (p.Asp424=) http://identifiers.org/clinvar/294678 ^@ NM_201253.2(CRB1):c.2330C>T (p.Pro777Leu) http://identifiers.org/clinvar/294680 ^@ NM_201253.2(CRB1):c.2677-8C>T http://identifiers.org/clinvar/294688 ^@ NM_201253.2(CRB1):c.3695A>G (p.His1232Arg) http://identifiers.org/clinvar/295672 ^@ NM_012414.3(RAB3GAP2):c.46G>A (p.Ala16Thr) http://identifiers.org/clinvar/296193 ^@ NM_022051.2(EGLN1):c.359C>T (p.Pro120Leu) http://identifiers.org/clinvar/294689 ^@ NM_201253.2(CRB1):c.3750-3T>C http://identifiers.org/clinvar/294691 ^@ NM_201253.2(CRB1):c.4005+7_4005+9dupAGC http://identifiers.org/clinvar/295674 ^@ NM_012414.3(RAB3GAP2):c.-48A>G http://identifiers.org/clinvar/296194 ^@ NM_022051.2(EGLN1):c.253C>G (p.Pro85Ala) http://identifiers.org/clinvar/295918 ^@ NM_002296.3(LBR):c.*1361T>C http://identifiers.org/clinvar/296196 ^@ NM_022051.2(EGLN1):c.53G>A (p.Arg18Gln) http://identifiers.org/clinvar/295919 ^@ NM_002296.3(LBR):c.*1305C>G http://identifiers.org/clinvar/294747 ^@ NM_000069.2(CACNA1S):c.2361-11C>T http://identifiers.org/clinvar/294752 ^@ NM_000069.2(CACNA1S):c.1945A>C (p.Asn649His) http://identifiers.org/clinvar/296207 ^@ NM_022051.2(EGLN1):c.-516A>C http://identifiers.org/clinvar/294754 ^@ NM_000069.2(CACNA1S):c.1885G>A (p.Gly629Arg) http://identifiers.org/clinvar/296212 ^@ NM_022051.2(EGLN1):c.-655G>A http://identifiers.org/clinvar/295920 ^@ NM_002296.3(LBR):c.*1200T>C http://identifiers.org/clinvar/295923 ^@ NM_002296.3(LBR):c.*769A>T http://identifiers.org/clinvar/295924 ^@ NM_002296.3(LBR):c.*686A>G http://identifiers.org/clinvar/294758 ^@ NM_000069.2(CACNA1S):c.1745G>C (p.Gly582Ala) http://identifiers.org/clinvar/294761 ^@ NM_000069.2(CACNA1S):c.1670G>A (p.Arg557His) http://identifiers.org/clinvar/294692 ^@ NM_201253.2(CRB1):c.*116A>G http://identifiers.org/clinvar/294694 ^@ NM_201253.2(CRB1):c.*331_*337dupTAGTTTT http://identifiers.org/clinvar/294764 ^@ NM_000069.2(CACNA1S):c.1470G>A (p.Gln490=) http://identifiers.org/clinvar/294766 ^@ NM_000069.2(CACNA1S):c.1368G>A (p.Gln456=) http://identifiers.org/clinvar/296213 ^@ NM_022051.2(EGLN1):c.-694C>T http://identifiers.org/clinvar/296219 ^@ NM_022051.2(EGLN1):c.-969G>A http://identifiers.org/clinvar/296224 ^@ NM_022051.2(EGLN1):c.-1609G>A http://identifiers.org/clinvar/296225 ^@ NM_022051.2(EGLN1):c.-1632_-1631delAG http://identifiers.org/clinvar/294696 ^@ NM_201253.2(CRB1):c.*412T>C http://identifiers.org/clinvar/294697 ^@ NM_000069.2(CACNA1S):c.*310A>T http://identifiers.org/clinvar/294700 ^@ NM_000069.2(CACNA1S):c.*163G>A http://identifiers.org/clinvar/294702 ^@ NM_000069.2(CACNA1S):c.*104T>C http://identifiers.org/clinvar/295927 ^@ NM_002296.3(LBR):c.*330T>G http://identifiers.org/clinvar/296226 ^@ NM_022051.2(EGLN1):c.-1661_-1660delCA http://identifiers.org/clinvar/295929 ^@ NM_002296.3(LBR):c.1828A>G (p.Ile610Val) http://identifiers.org/clinvar/294768 ^@ NM_000069.2(CACNA1S):c.1301T>C (p.Phe434Ser) http://identifiers.org/clinvar/296227 ^@ NM_022051.2(EGLN1):c.-1706T>C http://identifiers.org/clinvar/294705 ^@ NM_000069.2(CACNA1S):c.5515C>T (p.Pro1839Ser) http://identifiers.org/clinvar/296228 ^@ NM_022051.2(EGLN1):c.-1809A>G http://identifiers.org/clinvar/295932 ^@ NM_002296.3(LBR):c.1471A>G (p.Ile491Val) http://identifiers.org/clinvar/295934 ^@ NM_002296.3(LBR):c.1324T>C (p.Leu442=) http://identifiers.org/clinvar/295944 ^@ NM_002296.3(LBR):c.724A>G (p.Asn242Asp) http://identifiers.org/clinvar/294711 ^@ NM_000069.2(CACNA1S):c.4818C>T (p.Gly1606=) http://identifiers.org/clinvar/295946 ^@ NM_002296.3(LBR):c.396T>C (p.Tyr132=) http://identifiers.org/clinvar/295948 ^@ NM_002296.3(LBR):c.97A>G (p.Thr33Ala) http://identifiers.org/clinvar/295949 ^@ NM_002296.3(LBR):c.90C>T (p.His30=) http://identifiers.org/clinvar/294772 ^@ NM_000069.2(CACNA1S):c.889G>A (p.Val297Ile) http://identifiers.org/clinvar/295950 ^@ NM_002296.3(LBR):c.21C>T (p.Ala7=) http://identifiers.org/clinvar/296234 ^@ NM_022051.2(EGLN1):c.-2369C>T http://identifiers.org/clinvar/296236 ^@ NM_022051.2(EGLN1):c.-2448A>C http://identifiers.org/clinvar/295953 ^@ NM_002296.3(LBR):c.-41C>G http://identifiers.org/clinvar/295958 ^@ NM_002296.3(LBR):c.-167C>T http://identifiers.org/clinvar/295959 ^@ NM_002296.3(LBR):c.-169G>A http://identifiers.org/clinvar/294773 ^@ NM_000069.2(CACNA1S):c.772G>A (p.Gly258Ser) http://identifiers.org/clinvar/294775 ^@ NM_000069.2(CACNA1S):c.695-6delC http://identifiers.org/clinvar/295964 ^@ NM_003240.4(LEFTY2):c.*279G>A http://identifiers.org/clinvar/295966 ^@ NM_003240.4(LEFTY2):c.*229C>T http://identifiers.org/clinvar/294778 ^@ NM_000069.2(CACNA1S):c.399-3T>C http://identifiers.org/clinvar/296242 ^@ NM_022051.2(EGLN1):c.-2599T>C http://identifiers.org/clinvar/296243 ^@ NM_022051.2(EGLN1):c.-2621G>C http://identifiers.org/clinvar/296247 ^@ NM_022051.2(EGLN1):c.-2744T>C http://identifiers.org/clinvar/294779 ^@ NM_000069.2(CACNA1S):c.398+3G>A http://identifiers.org/clinvar/294713 ^@ NM_000069.2(CACNA1S):c.4752G>A (p.Leu1584=) http://identifiers.org/clinvar/294780 ^@ NM_000069.2(CACNA1S):c.369T>C (p.Asn123=) http://identifiers.org/clinvar/294714 ^@ NM_000069.2(CACNA1S):c.4747G>A (p.Glu1583Lys) http://identifiers.org/clinvar/296248 ^@ NM_022051.2(EGLN1):c.-2762C>T http://identifiers.org/clinvar/296287 ^@ NM_003193.4(TBCE):c.-68G>C http://identifiers.org/clinvar/294783 ^@ NM_000069.2(CACNA1S):c.324C>T (p.Tyr108=) http://identifiers.org/clinvar/294790 ^@ NM_000069.2(CACNA1S):c.-110C>T http://identifiers.org/clinvar/294793 ^@ NM_000069.2(CACNA1S):c.-206C>T http://identifiers.org/clinvar/295967 ^@ NM_003240.4(LEFTY2):c.1073C>T (p.Ala358Val) http://identifiers.org/clinvar/296289 ^@ NM_003193.4(TBCE):c.100+64_100+65dupGT http://identifiers.org/clinvar/296295 ^@ NM_003193.4(TBCE):c.460+14C>T http://identifiers.org/clinvar/296297 ^@ NM_003193.4(TBCE):c.614T>C (p.Val205Ala) http://identifiers.org/clinvar/296298 ^@ NM_003193.4(TBCE):c.737+11C>T http://identifiers.org/clinvar/294731 ^@ NM_000069.2(CACNA1S):c.3331G>A (p.Val1111Met) http://identifiers.org/clinvar/294732 ^@ NM_000069.2(CACNA1S):c.3090C>T (p.Asp1030=) http://identifiers.org/clinvar/294733 ^@ NM_000069.2(CACNA1S):c.3027G>A (p.Thr1009=) http://identifiers.org/clinvar/295969 ^@ NM_003240.4(LEFTY2):c.810T>C (p.Ile270=) http://identifiers.org/clinvar/294803 ^@ NM_001005337.2(PKP1):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/294812 ^@ NM_001005337.2(PKP1):c.822C>G (p.Phe274Leu) http://identifiers.org/clinvar/296301 ^@ NM_003193.4(TBCE):c.808C>T (p.Leu270=) http://identifiers.org/clinvar/294815 ^@ NM_001005337.2(PKP1):c.996C>T (p.Arg332=) http://identifiers.org/clinvar/295986 ^@ NM_000447.2(PSEN2):c.-43C>T http://identifiers.org/clinvar/294819 ^@ NM_001005337.2(PKP1):c.1134C>T (p.Arg378=) http://identifiers.org/clinvar/296308 ^@ NM_003193.4(TBCE):c.1253A>G (p.Tyr418Cys) http://identifiers.org/clinvar/294820 ^@ NM_001005337.2(PKP1):c.1237C>A (p.Leu413Met) http://identifiers.org/clinvar/294828 ^@ NM_001005337.2(PKP1):c.1938C>A (p.Asn646Lys) http://identifiers.org/clinvar/294833 ^@ NM_001005337.2(PKP1):c.*151G>A http://identifiers.org/clinvar/294838 ^@ NM_001005337.2(PKP1):c.*222G>C http://identifiers.org/clinvar/294840 ^@ NM_001005337.2(PKP1):c.*320G>T http://identifiers.org/clinvar/295991 ^@ NM_000447.2(PSEN2):c.690C>G (p.Ala230=) http://identifiers.org/clinvar/295993 ^@ NM_000447.2(PSEN2):c.937G>A (p.Gly313Ser) http://identifiers.org/clinvar/295995 ^@ NM_000447.2(PSEN2):c.1077C>T (p.Gly359=) http://identifiers.org/clinvar/295998 ^@ NM_000447.2(PSEN2):c.*103C>T http://identifiers.org/clinvar/295999 ^@ NM_000447.2(PSEN2):c.*120G>A http://identifiers.org/clinvar/294736 ^@ NM_000069.2(CACNA1S):c.2957G>A (p.Arg986His) http://identifiers.org/clinvar/294842 ^@ NM_001005337.2(PKP1):c.*329C>T http://identifiers.org/clinvar/296000 ^@ NM_000447.2(PSEN2):c.*132T>C http://identifiers.org/clinvar/294846 ^@ NM_001005337.2(PKP1):c.*579G>A http://identifiers.org/clinvar/296314 ^@ NM_003193.4(TBCE):c.*60_*62dupTAA http://identifiers.org/clinvar/296317 ^@ NM_003193.4(TBCE):c.*177T>C http://identifiers.org/clinvar/294738 ^@ NM_000069.2(CACNA1S):c.2784C>T (p.Ile928=) http://identifiers.org/clinvar/296323 ^@ NM_000081.3(LYST):c.*1379G>C http://identifiers.org/clinvar/296324 ^@ NM_000081.3(LYST):c.*1356G>T http://identifiers.org/clinvar/294742 ^@ NM_000069.2(CACNA1S):c.2594G>A (p.Arg865His) http://identifiers.org/clinvar/296326 ^@ NM_000081.3(LYST):c.*1275T>C http://identifiers.org/clinvar/296338 ^@ NM_000081.3(LYST):c.*329A>G http://identifiers.org/clinvar/296344 ^@ NM_000081.3(LYST):c.11268-6_11268-5delTT http://identifiers.org/clinvar/296006 ^@ NM_020247.4(COQ8A):c.-137C>A http://identifiers.org/clinvar/296009 ^@ NM_020247.4(COQ8A):c.358G>A (p.Val120Met) http://identifiers.org/clinvar/296353 ^@ NM_000081.3(LYST):c.10657A>G (p.Ser3553Gly) http://identifiers.org/clinvar/296359 ^@ NM_000081.3(LYST):c.9969C>T (p.His3323=) http://identifiers.org/clinvar/296011 ^@ NM_020247.4(COQ8A):c.521C>A (p.Thr174Lys) http://identifiers.org/clinvar/294744 ^@ NM_000069.2(CACNA1S):c.2440G>A (p.Ala814Thr) http://identifiers.org/clinvar/294745 ^@ NM_000069.2(CACNA1S):c.2439C>T (p.Ser813=) http://identifiers.org/clinvar/296361 ^@ NM_000081.3(LYST):c.9542A>G (p.Asn3181Ser) http://identifiers.org/clinvar/294748 ^@ NM_000069.2(CACNA1S):c.2100G>A (p.Thr700=) http://identifiers.org/clinvar/296362 ^@ NM_000081.3(LYST):c.9520G>A (p.Val3174Ile) http://identifiers.org/clinvar/294848 ^@ NM_001005337.2(PKP1):c.*644G>A http://identifiers.org/clinvar/294849 ^@ NM_001005337.2(PKP1):c.*673G>A http://identifiers.org/clinvar/294750 ^@ NM_000069.2(CACNA1S):c.1949-7C>T http://identifiers.org/clinvar/296365 ^@ NM_000081.3(LYST):c.9045-13T>C http://identifiers.org/clinvar/294853 ^@ NM_001005337.2(PKP1):c.*718T>C http://identifiers.org/clinvar/296375 ^@ NM_000081.3(LYST):c.8222G>A (p.Arg2741Gln) http://identifiers.org/clinvar/296378 ^@ NM_000081.3(LYST):c.7806A>G (p.Gln2602=) http://identifiers.org/clinvar/296382 ^@ NM_000081.3(LYST):c.7368T>C (p.Asn2456=) http://identifiers.org/clinvar/294756 ^@ NM_000069.2(CACNA1S):c.1813A>G (p.Ile605Val) http://identifiers.org/clinvar/294757 ^@ NM_000069.2(CACNA1S):c.1780C>T (p.Arg594Cys) http://identifiers.org/clinvar/296012 ^@ NM_020247.4(COQ8A):c.687G>A (p.Leu229=) http://identifiers.org/clinvar/296391 ^@ NM_000081.3(LYST):c.5676G>A (p.Met1892Ile) http://identifiers.org/clinvar/294762 ^@ NM_000069.2(CACNA1S):c.1629G>T (p.Thr543=) http://identifiers.org/clinvar/294763 ^@ NM_000069.2(CACNA1S):c.1628C>T (p.Thr543Met) http://identifiers.org/clinvar/296015 ^@ NM_020247.4(COQ8A):c.811C>T (p.Arg271Cys) http://identifiers.org/clinvar/296394 ^@ NM_000081.3(LYST):c.5071C>T (p.Pro1691Ser) http://identifiers.org/clinvar/294859 ^@ NM_001005337.2(PKP1):c.*1040G>A http://identifiers.org/clinvar/296401 ^@ NM_000081.3(LYST):c.3757A>C (p.Ser1253Arg) http://identifiers.org/clinvar/294863 ^@ NM_001005337.2(PKP1):c.*1305T>C http://identifiers.org/clinvar/294867 ^@ NM_001005337.2(PKP1):c.*1555C>T http://identifiers.org/clinvar/296024 ^@ NM_020247.4(COQ8A):c.1660-9T>C http://identifiers.org/clinvar/296409 ^@ NM_000081.3(LYST):c.3030A>G (p.Gly1010=) http://identifiers.org/clinvar/294770 ^@ NM_000069.2(CACNA1S):c.951C>T (p.Leu317=) http://identifiers.org/clinvar/296410 ^@ NM_000081.3(LYST):c.2946T>C (p.Tyr982=) http://identifiers.org/clinvar/294774 ^@ NM_000069.2(CACNA1S):c.743C>T (p.Thr248Met) http://identifiers.org/clinvar/294777 ^@ NM_000069.2(CACNA1S):c.598G>A (p.Ala200Thr) http://identifiers.org/clinvar/294782 ^@ NM_000069.2(CACNA1S):c.345C>T (p.Asp115=) http://identifiers.org/clinvar/296413 ^@ NM_000081.3(LYST):c.2870T>C (p.Met957Thr) http://identifiers.org/clinvar/294871 ^@ NM_001005337.2(PKP1):c.*1673T>C http://identifiers.org/clinvar/296414 ^@ NM_000081.3(LYST):c.2806C>A (p.Pro936Thr) http://identifiers.org/clinvar/296418 ^@ NM_000081.3(LYST):c.2700A>G (p.Leu900=) http://identifiers.org/clinvar/294875 ^@ NM_001005337.2(PKP1):c.*1884G>A http://identifiers.org/clinvar/296420 ^@ NM_000081.3(LYST):c.2630G>C (p.Gly877Ala) http://identifiers.org/clinvar/296423 ^@ NM_000081.3(LYST):c.2313G>A (p.Gln771=) http://identifiers.org/clinvar/294876 ^@ NM_001005337.2(PKP1):c.*1942A>C http://identifiers.org/clinvar/296428 ^@ NM_000081.3(LYST):c.1722A>G (p.Leu574=) http://identifiers.org/clinvar/294879 ^@ NM_001005337.2(PKP1):c.*2527G>A http://identifiers.org/clinvar/294886 ^@ NM_001005337.2(PKP1):c.*2704A>G http://identifiers.org/clinvar/294887 ^@ NM_001005337.2(PKP1):c.*2737C>G http://identifiers.org/clinvar/296031 ^@ NM_020247.4(COQ8A):c.*133G>A http://identifiers.org/clinvar/296437 ^@ NM_000081.3(LYST):c.196T>C (p.Leu66=) http://identifiers.org/clinvar/296438 ^@ NM_000081.3(LYST):c.110C>T (p.Thr37Met) http://identifiers.org/clinvar/294784 ^@ NM_000069.2(CACNA1S):c.196G>A (p.Val66Met) http://identifiers.org/clinvar/294785 ^@ NM_000069.2(CACNA1S):c.187G>T (p.Ala63Ser) http://identifiers.org/clinvar/296036 ^@ NM_020247.4(COQ8A):c.*326C>G http://identifiers.org/clinvar/296439 ^@ NM_000081.3(LYST):c.-7-14T>C http://identifiers.org/clinvar/294788 ^@ NM_000069.2(CACNA1S):c.-68T>C http://identifiers.org/clinvar/296442 ^@ NM_000081.3(LYST):c.-131G>C http://identifiers.org/clinvar/296451 ^@ NM_145861.2(EDARADD):c.571G>T (p.Val191Leu) http://identifiers.org/clinvar/294795 ^@ NM_001005337.2(PKP1):c.-130A>T http://identifiers.org/clinvar/294801 ^@ NM_001005337.2(PKP1):c.241G>A (p.Gly81Arg) http://identifiers.org/clinvar/296039 ^@ NM_020247.4(COQ8A):c.*425G>T http://identifiers.org/clinvar/296048 ^@ NM_020247.4(COQ8A):c.*761G>A http://identifiers.org/clinvar/296055 ^@ NM_001100.3(ACTA1):c.809-16_809-15insG http://identifiers.org/clinvar/296059 ^@ NM_001100.3(ACTA1):c.108C>T (p.Ile36=) http://identifiers.org/clinvar/296456 ^@ NM_145861.2(EDARADD):c.*272G>A http://identifiers.org/clinvar/296460 ^@ NM_145861.2(EDARADD):c.*417G>A http://identifiers.org/clinvar/296063 ^@ NM_000029.3(AGT):c.*556C>A http://identifiers.org/clinvar/296462 ^@ NM_145861.2(EDARADD):c.*628G>A http://identifiers.org/clinvar/294802 ^@ NM_001005337.2(PKP1):c.263A>G (p.Tyr88Cys) http://identifiers.org/clinvar/294805 ^@ NM_001005337.2(PKP1):c.378G>C (p.Trp126Cys) http://identifiers.org/clinvar/296471 ^@ NM_145861.2(EDARADD):c.*1149G>A http://identifiers.org/clinvar/294889 ^@ NM_001005337.2(PKP1):c.*2778C>T http://identifiers.org/clinvar/294890 ^@ NM_001005337.2(PKP1):c.*2850C>A http://identifiers.org/clinvar/296066 ^@ NM_000029.3(AGT):c.*508C>T http://identifiers.org/clinvar/296093 ^@ NM_000029.3(AGT):c.-186G>A http://identifiers.org/clinvar/294806 ^@ NM_001005337.2(PKP1):c.418G>A (p.Ala140Thr) http://identifiers.org/clinvar/296095 ^@ NM_000029.3(AGT):c.-191C>T http://identifiers.org/clinvar/296476 ^@ NM_145861.2(EDARADD):c.*1562T>C http://identifiers.org/clinvar/296106 ^@ NM_014236.3(GNPAT):c.-54A>G http://identifiers.org/clinvar/296480 ^@ NM_145861.2(EDARADD):c.*1738A>G http://identifiers.org/clinvar/296481 ^@ NM_145861.2(EDARADD):c.*1787C>T http://identifiers.org/clinvar/296108 ^@ NM_014236.3(GNPAT):c.-44C>T http://identifiers.org/clinvar/296482 ^@ NM_145861.2(EDARADD):c.*1809C>T http://identifiers.org/clinvar/296110 ^@ NM_014236.3(GNPAT):c.57C>T (p.Ser19=) http://identifiers.org/clinvar/296114 ^@ NM_014236.3(GNPAT):c.608T>A (p.Met203Lys) http://identifiers.org/clinvar/296115 ^@ NM_014236.3(GNPAT):c.706G>C (p.Ala236Pro) http://identifiers.org/clinvar/294894 ^@ NM_001001430.2(TNNT2):c.690-9C>A http://identifiers.org/clinvar/296494 ^@ NM_001103.3(ACTN2):c.-7G>A http://identifiers.org/clinvar/294810 ^@ NM_001005337.2(PKP1):c.733C>T (p.Leu245=) http://identifiers.org/clinvar/296496 ^@ NM_001103.3(ACTN2):c.122G>A (p.Arg41Lys) http://identifiers.org/clinvar/296499 ^@ NM_001103.3(ACTN2):c.646A>G (p.Met216Val) http://identifiers.org/clinvar/294811 ^@ NM_001005337.2(PKP1):c.819C>T (p.Cys273=) http://identifiers.org/clinvar/296503 ^@ NM_001103.3(ACTN2):c.983G>A (p.Arg328Gln) http://identifiers.org/clinvar/294813 ^@ NM_001005337.2(PKP1):c.899A>C (p.Asn300Thr) http://identifiers.org/clinvar/296118 ^@ NM_014236.3(GNPAT):c.1030C>T (p.Arg344Trp) http://identifiers.org/clinvar/296124 ^@ NM_014236.3(GNPAT):c.1307C>T (p.Pro436Leu) http://identifiers.org/clinvar/294816 ^@ NM_001005337.2(PKP1):c.1008C>T (p.Ser336=) http://identifiers.org/clinvar/294898 ^@ NM_001001430.2(TNNT2):c.-22G>C http://identifiers.org/clinvar/294817 ^@ NM_001005337.2(PKP1):c.1014G>A (p.Leu338=) http://identifiers.org/clinvar/296506 ^@ NM_001103.3(ACTN2):c.1823G>A (p.Arg608Gln) http://identifiers.org/clinvar/296507 ^@ NM_001103.3(ACTN2):c.1918C>T (p.Arg640Cys) http://identifiers.org/clinvar/294900 ^@ NM_003465.2(CHIT1):c.*729T>C http://identifiers.org/clinvar/294907 ^@ NM_003465.2(CHIT1):c.*57C>T http://identifiers.org/clinvar/294915 ^@ NM_003465.2(CHIT1):c.1161T>C (p.Leu387=) http://identifiers.org/clinvar/296128 ^@ NM_014236.3(GNPAT):c.1479C>T (p.Ser493=) http://identifiers.org/clinvar/294822 ^@ NM_001005337.2(PKP1):c.1336T>C (p.Cys446Arg) http://identifiers.org/clinvar/296138 ^@ NM_014236.3(GNPAT):c.*2A>C http://identifiers.org/clinvar/296519 ^@ NM_001103.3(ACTN2):c.*700A>G http://identifiers.org/clinvar/296521 ^@ NM_001103.3(ACTN2):c.*748A>G http://identifiers.org/clinvar/296143 ^@ NM_022051.2(EGLN1):c.*2577G>C http://identifiers.org/clinvar/296146 ^@ NM_022051.2(EGLN1):c.*2096T>C http://identifiers.org/clinvar/296152 ^@ NM_022051.2(EGLN1):c.*1911C>T http://identifiers.org/clinvar/294918 ^@ NM_003465.2(CHIT1):c.1090G>A (p.Asp364Asn) http://identifiers.org/clinvar/296524 ^@ NM_001103.3(ACTN2):c.*1040G>A http://identifiers.org/clinvar/294937 ^@ NM_003465.2(CHIT1):c.107_108delAG (p.Gln36Argfs) http://identifiers.org/clinvar/296527 ^@ NM_001103.3(ACTN2):c.*1109C>T http://identifiers.org/clinvar/296153 ^@ NM_022051.2(EGLN1):c.*1880A>T http://identifiers.org/clinvar/296157 ^@ NM_022051.2(EGLN1):c.*1487C>T http://identifiers.org/clinvar/296160 ^@ NM_022051.2(EGLN1):c.*1415_*1419delATTTT http://identifiers.org/clinvar/294829 ^@ NM_001005337.2(PKP1):c.2050C>T (p.Arg684Trp) http://identifiers.org/clinvar/296528 ^@ NM_001103.3(ACTN2):c.*1253G>T http://identifiers.org/clinvar/296540 ^@ NM_000254.2(MTR):c.-173G>T http://identifiers.org/clinvar/294947 ^@ NM_003465.2(CHIT1):c.-71G>A http://identifiers.org/clinvar/294949 ^@ NM_003465.2(CHIT1):c.-81G>A http://identifiers.org/clinvar/296162 ^@ NM_022051.2(EGLN1):c.*1236_*1237insTG http://identifiers.org/clinvar/296171 ^@ NM_022051.2(EGLN1):c.*768_*772delGTTTT http://identifiers.org/clinvar/294952 ^@ NM_000537.3(REN):c.855C>T (p.Asp285=) http://identifiers.org/clinvar/296543 ^@ NM_000254.2(MTR):c.-111C>T http://identifiers.org/clinvar/296545 ^@ NM_000254.2(MTR):c.-67C>T http://identifiers.org/clinvar/296546 ^@ NM_000254.2(MTR):c.-6G>C http://identifiers.org/clinvar/294960 ^@ NM_000537.3(REN):c.398C>T (p.Ser133Leu) http://identifiers.org/clinvar/294830 ^@ NM_001005337.2(PKP1):c.2093G>A (p.Gly698Asp) http://identifiers.org/clinvar/294831 ^@ NM_001005337.2(PKP1):c.*56C>A http://identifiers.org/clinvar/296557 ^@ NM_000254.2(MTR):c.1033G>A (p.Val345Ile) http://identifiers.org/clinvar/294835 ^@ NM_001005337.2(PKP1):c.*192G>A http://identifiers.org/clinvar/294836 ^@ NM_001005337.2(PKP1):c.*223dupG http://identifiers.org/clinvar/294845 ^@ NM_001005337.2(PKP1):c.*447A>T http://identifiers.org/clinvar/296174 ^@ NM_022051.2(EGLN1):c.*622A>G http://identifiers.org/clinvar/294855 ^@ NM_001005337.2(PKP1):c.*856C>T http://identifiers.org/clinvar/294856 ^@ NM_001005337.2(PKP1):c.*864G>T http://identifiers.org/clinvar/294860 ^@ NM_001005337.2(PKP1):c.*1148C>T http://identifiers.org/clinvar/294961 ^@ NM_000537.3(REN):c.390C>T (p.Phe130=) http://identifiers.org/clinvar/294999 ^@ NM_032409.2(PINK1):c.344A>T (p.Gln115Leu) http://identifiers.org/clinvar/295000 ^@ NM_032409.2(PINK1):c.695C>T (p.Ala232Val) http://identifiers.org/clinvar/295003 ^@ NM_032409.2(PINK1):c.960-11C>T http://identifiers.org/clinvar/296564 ^@ NM_000254.2(MTR):c.1437C>T (p.Asp479=) http://identifiers.org/clinvar/296565 ^@ NM_000254.2(MTR):c.1722T>C (p.Ser574=) http://identifiers.org/clinvar/296566 ^@ NM_000254.2(MTR):c.1942C>T (p.Arg648Cys) http://identifiers.org/clinvar/294861 ^@ NM_001005337.2(PKP1):c.*1197C>T http://identifiers.org/clinvar/295005 ^@ NM_032409.2(PINK1):c.1251+5G>A http://identifiers.org/clinvar/296568 ^@ NM_000254.2(MTR):c.2245C>T (p.Pro749Ser) http://identifiers.org/clinvar/296569 ^@ NM_000254.2(MTR):c.2405+8A>G http://identifiers.org/clinvar/296570 ^@ NM_000254.2(MTR):c.2454T>C (p.Ala818=) http://identifiers.org/clinvar/296175 ^@ NM_022051.2(EGLN1):c.*603C>A http://identifiers.org/clinvar/294864 ^@ NM_001005337.2(PKP1):c.*1409C>T http://identifiers.org/clinvar/295006 ^@ NM_032409.2(PINK1):c.1562A>C (p.Asn521Thr) http://identifiers.org/clinvar/296572 ^@ NM_000254.2(MTR):c.2686C>T (p.Leu896=) http://identifiers.org/clinvar/296179 ^@ NM_022051.2(EGLN1):c.*452A>G http://identifiers.org/clinvar/295009 ^@ NM_032409.2(PINK1):c.1719C>G (p.Leu573=) http://identifiers.org/clinvar/296573 ^@ NM_000254.2(MTR):c.2815G>C (p.Gly939Arg) http://identifiers.org/clinvar/295017 ^@ NM_032409.2(PINK1):c.*356_*357delCG http://identifiers.org/clinvar/295026 ^@ NM_032409.2(PINK1):c.*573_*576dupGACT http://identifiers.org/clinvar/295033 ^@ NM_005216.4(DDOST):c.*579dupA http://identifiers.org/clinvar/296574 ^@ NM_000254.2(MTR):c.2994C>T (p.Asn998=) http://identifiers.org/clinvar/296582 ^@ NM_000254.2(MTR):c.3598+15G>A http://identifiers.org/clinvar/294866 ^@ NM_001005337.2(PKP1):c.*1516T>C http://identifiers.org/clinvar/294868 ^@ NM_001005337.2(PKP1):c.*1565C>T http://identifiers.org/clinvar/296182 ^@ NM_022051.2(EGLN1):c.*21C>G http://identifiers.org/clinvar/296587 ^@ NM_000254.2(MTR):c.*112A>C http://identifiers.org/clinvar/296185 ^@ NM_022051.2(EGLN1):c.1217-10delT http://identifiers.org/clinvar/296588 ^@ NM_000254.2(MTR):c.*153A>G http://identifiers.org/clinvar/294874 ^@ NM_001005337.2(PKP1):c.*1812G>A http://identifiers.org/clinvar/296591 ^@ NM_000254.2(MTR):c.*465T>A http://identifiers.org/clinvar/294878 ^@ NM_001005337.2(PKP1):c.*2505C>G http://identifiers.org/clinvar/294880 ^@ NM_001005337.2(PKP1):c.*2542G>A http://identifiers.org/clinvar/295039 ^@ NM_005216.4(DDOST):c.*577_*578insTAAATAAATAAAAAAAAAAA http://identifiers.org/clinvar/295041 ^@ NM_005216.4(DDOST):c.*574_*577delTAAA http://identifiers.org/clinvar/295042 ^@ NM_005216.4(DDOST):c.*566_*577dupTAAATAAATAAA http://identifiers.org/clinvar/295036 ^@ NM_005216.4(DDOST):c.*562_*577dup16 http://identifiers.org/clinvar/296592 ^@ NM_000254.2(MTR):c.*485G>A http://identifiers.org/clinvar/296189 ^@ NM_022051.2(EGLN1):c.832G>A (p.Asp278Asn) http://identifiers.org/clinvar/296593 ^@ NM_000254.2(MTR):c.*755T>G http://identifiers.org/clinvar/296190 ^@ NM_022051.2(EGLN1):c.739T>G (p.Ser247Ala) http://identifiers.org/clinvar/296192 ^@ NM_022051.2(EGLN1):c.432C>T (p.Pro144=) http://identifiers.org/clinvar/296195 ^@ NM_022051.2(EGLN1):c.120C>T (p.Phe40=) http://identifiers.org/clinvar/296201 ^@ NM_022051.2(EGLN1):c.-379A>T http://identifiers.org/clinvar/296205 ^@ NM_022051.2(EGLN1):c.-461C>A http://identifiers.org/clinvar/294896 ^@ NM_001001430.2(TNNT2):c.-1C>A http://identifiers.org/clinvar/296206 ^@ NM_022051.2(EGLN1):c.-470C>T http://identifiers.org/clinvar/294904 ^@ NM_003465.2(CHIT1):c.*143A>G http://identifiers.org/clinvar/296600 ^@ NM_000254.2(MTR):c.*921A>C http://identifiers.org/clinvar/296608 ^@ NM_000254.2(MTR):c.*1147T>G http://identifiers.org/clinvar/296209 ^@ NM_022051.2(EGLN1):c.-536C>T http://identifiers.org/clinvar/296216 ^@ NM_022051.2(EGLN1):c.-786G>A http://identifiers.org/clinvar/296610 ^@ NM_000254.2(MTR):c.*1254A>C http://identifiers.org/clinvar/296218 ^@ NM_022051.2(EGLN1):c.-901T>C http://identifiers.org/clinvar/296220 ^@ NM_022051.2(EGLN1):c.-1212A>G http://identifiers.org/clinvar/296221 ^@ NM_022051.2(EGLN1):c.-1296T>G http://identifiers.org/clinvar/296615 ^@ NM_000254.2(MTR):c.*1488T>C http://identifiers.org/clinvar/296616 ^@ NM_000254.2(MTR):c.*1585C>T http://identifiers.org/clinvar/296222 ^@ NM_022051.2(EGLN1):c.-1517A>G http://identifiers.org/clinvar/295037 ^@ NM_005216.4(DDOST):c.*558_*577dup20 http://identifiers.org/clinvar/296231 ^@ NM_022051.2(EGLN1):c.-2169C>T http://identifiers.org/clinvar/296232 ^@ NM_022051.2(EGLN1):c.-2203T>C http://identifiers.org/clinvar/295046 ^@ NM_005216.4(DDOST):c.*526G>A http://identifiers.org/clinvar/296619 ^@ NM_000254.2(MTR):c.*1732T>C http://identifiers.org/clinvar/295049 ^@ NM_005216.4(DDOST):c.*426C>T http://identifiers.org/clinvar/294908 ^@ NM_003465.2(CHIT1):c.1352C>G (p.Pro451Arg) http://identifiers.org/clinvar/295051 ^@ NM_005216.4(DDOST):c.*352C>T http://identifiers.org/clinvar/295052 ^@ NM_005216.4(DDOST):c.*332C>T http://identifiers.org/clinvar/296620 ^@ NM_000254.2(MTR):c.*1744A>G http://identifiers.org/clinvar/295057 ^@ NM_005216.4(DDOST):c.*40A>G http://identifiers.org/clinvar/296625 ^@ NM_000254.2(MTR):c.*2114A>G http://identifiers.org/clinvar/296250 ^@ NM_022051.2(EGLN1):c.-2923C>T http://identifiers.org/clinvar/296286 ^@ NM_003193.4(TBCE):c.-92C>G http://identifiers.org/clinvar/296288 ^@ NM_003193.4(TBCE):c.-49T>C http://identifiers.org/clinvar/294911 ^@ NM_003465.2(CHIT1):c.1309T>C (p.Phe437Leu) http://identifiers.org/clinvar/296293 ^@ NM_003193.4(TBCE):c.100+15T>G http://identifiers.org/clinvar/296306 ^@ NM_003193.4(TBCE):c.1125C>T (p.Pro375=) http://identifiers.org/clinvar/296307 ^@ NM_003193.4(TBCE):c.1226A>G (p.Glu409Gly) http://identifiers.org/clinvar/296311 ^@ NM_003193.4(TBCE):c.1397C>T (p.Pro466Leu) http://identifiers.org/clinvar/296629 ^@ NM_000254.2(MTR):c.*2364C>T http://identifiers.org/clinvar/296312 ^@ NM_003193.4(TBCE):c.1492-14C>T http://identifiers.org/clinvar/296633 ^@ NM_000254.2(MTR):c.*2560A>G http://identifiers.org/clinvar/296313 ^@ NM_003193.4(TBCE):c.1577G>A (p.Arg526Gln) http://identifiers.org/clinvar/296319 ^@ NM_000081.3(LYST):c.*1831A>C http://identifiers.org/clinvar/296320 ^@ NM_000081.3(LYST):c.*1792A>G http://identifiers.org/clinvar/296638 ^@ NM_000254.2(MTR):c.*2804T>C http://identifiers.org/clinvar/296322 ^@ NM_000081.3(LYST):c.*1428T>G http://identifiers.org/clinvar/296641 ^@ NM_000254.2(MTR):c.*2994A>C http://identifiers.org/clinvar/296330 ^@ NM_000081.3(LYST):c.*873G>C http://identifiers.org/clinvar/296334 ^@ NM_000081.3(LYST):c.*694T>C http://identifiers.org/clinvar/296337 ^@ NM_000081.3(LYST):c.*446T>C http://identifiers.org/clinvar/296642 ^@ NM_000254.2(MTR):c.*3140G>A http://identifiers.org/clinvar/296339 ^@ NM_000081.3(LYST):c.*247G>T http://identifiers.org/clinvar/296646 ^@ NM_000254.2(MTR):c.*3230G>C http://identifiers.org/clinvar/296342 ^@ NM_000081.3(LYST):c.*5G>A http://identifiers.org/clinvar/296345 ^@ NM_000081.3(LYST):c.11196-15T>G http://identifiers.org/clinvar/296347 ^@ NM_000081.3(LYST):c.11122G>A (p.Val3708Met) http://identifiers.org/clinvar/295112 ^@ NM_005216.4(DDOST):c.945G>C (p.Arg315=) http://identifiers.org/clinvar/296647 ^@ NM_000254.2(MTR):c.*3320G>A http://identifiers.org/clinvar/294912 ^@ NM_003465.2(CHIT1):c.1295G>A (p.Arg432Gln) http://identifiers.org/clinvar/296348 ^@ NM_000081.3(LYST):c.11076C>T (p.Asn3692=) http://identifiers.org/clinvar/295113 ^@ NM_005216.4(DDOST):c.944G>A (p.Arg315Gln) http://identifiers.org/clinvar/296349 ^@ NM_000081.3(LYST):c.10838A>G (p.Tyr3613Cys) http://identifiers.org/clinvar/296650 ^@ NM_000254.2(MTR):c.*3446G>A http://identifiers.org/clinvar/296350 ^@ NM_000081.3(LYST):c.10800+4G>T http://identifiers.org/clinvar/296659 ^@ NM_000254.2(MTR):c.*3910G>A http://identifiers.org/clinvar/296661 ^@ NM_000254.2(MTR):c.*4065A>G http://identifiers.org/clinvar/296669 ^@ NM_000254.2(MTR):c.*4409G>C http://identifiers.org/clinvar/294921 ^@ NM_003465.2(CHIT1):c.1044G>T (p.Lys348Asn) http://identifiers.org/clinvar/294923 ^@ NM_003465.2(CHIT1):c.780G>A (p.Leu260=) http://identifiers.org/clinvar/296351 ^@ NM_000081.3(LYST):c.10733G>T (p.Cys3578Phe) http://identifiers.org/clinvar/296670 ^@ NM_000254.2(MTR):c.*4423C>G http://identifiers.org/clinvar/296354 ^@ NM_000081.3(LYST):c.10526G>A (p.Arg3509Gln) http://identifiers.org/clinvar/296355 ^@ NM_000081.3(LYST):c.10477T>C (p.Phe3493Leu) http://identifiers.org/clinvar/296357 ^@ NM_000081.3(LYST):c.10341G>A (p.Glu3447=) http://identifiers.org/clinvar/296360 ^@ NM_000081.3(LYST):c.9742G>A (p.Val3248Ile) http://identifiers.org/clinvar/296377 ^@ NM_000081.3(LYST):c.7836A>G (p.Ser2612=) http://identifiers.org/clinvar/295114 ^@ NM_005216.4(DDOST):c.882C>T (p.Ala294=) http://identifiers.org/clinvar/296679 ^@ NM_000254.2(MTR):c.*5170A>G http://identifiers.org/clinvar/295135 ^@ NM_005216.4(DDOST):c.827C>T (p.Ala276Val) http://identifiers.org/clinvar/296380 ^@ NM_000081.3(LYST):c.7430C>T (p.Thr2477Ile) http://identifiers.org/clinvar/296680 ^@ NM_000254.2(MTR):c.*5209_*5213dupAAAAC http://identifiers.org/clinvar/296386 ^@ NM_000081.3(LYST):c.6454A>C (p.Ser2152Arg) http://identifiers.org/clinvar/294924 ^@ NM_003465.2(CHIT1):c.767C>T (p.Pro256Leu) http://identifiers.org/clinvar/296683 ^@ NM_000254.2(MTR):c.*5255T>C http://identifiers.org/clinvar/296690 ^@ NM_000254.2(MTR):c.*5639A>G http://identifiers.org/clinvar/296691 ^@ NM_000254.2(MTR):c.*5837dupT http://identifiers.org/clinvar/294926 ^@ NM_003465.2(CHIT1):c.549G>A (p.Ala183=) http://identifiers.org/clinvar/294927 ^@ NM_003465.2(CHIT1):c.508G>T (p.Ala170Ser) http://identifiers.org/clinvar/296388 ^@ NM_000081.3(LYST):c.6291C>T (p.Ala2097=) http://identifiers.org/clinvar/296390 ^@ NM_000081.3(LYST):c.6079G>C (p.Val2027Leu) http://identifiers.org/clinvar/294928 ^@ NM_003465.2(CHIT1):c.480+12C>T http://identifiers.org/clinvar/295162 ^@ NM_005216.4(DDOST):c.40A>C (p.Arg14=) http://identifiers.org/clinvar/296392 ^@ NM_000081.3(LYST):c.5635-4A>G http://identifiers.org/clinvar/296693 ^@ NM_000254.2(MTR):c.*5884A>G http://identifiers.org/clinvar/296695 ^@ NM_000254.2(MTR):c.*5956A>T http://identifiers.org/clinvar/294935 ^@ NM_003465.2(CHIT1):c.314+14G>A http://identifiers.org/clinvar/294941 ^@ NM_003465.2(CHIT1):c.55G>A (p.Gly19Ser) http://identifiers.org/clinvar/294942 ^@ NM_003465.2(CHIT1):c.52T>C (p.Trp18Arg) http://identifiers.org/clinvar/295166 ^@ NM_005216.4(DDOST):c.-69A>G http://identifiers.org/clinvar/296697 ^@ NM_000254.2(MTR):c.*6101A>C http://identifiers.org/clinvar/296821 ^@ NM_000975.3(RPL11):c.339C>T (p.Ile113=) http://identifiers.org/clinvar/294976 ^@ NM_002389.4(CD46):c.1128-10C>T http://identifiers.org/clinvar/296393 ^@ NM_000081.3(LYST):c.5634+11A>G http://identifiers.org/clinvar/294946 ^@ NM_003465.2(CHIT1):c.-54G>A http://identifiers.org/clinvar/294948 ^@ NM_003465.2(CHIT1):c.-77C>T http://identifiers.org/clinvar/296709 ^@ NM_001035.2(RYR2):c.1404G>A (p.Glu468=) http://identifiers.org/clinvar/296711 ^@ NM_001035.2(RYR2):c.1612+10A>G http://identifiers.org/clinvar/294953 ^@ NM_000537.3(REN):c.817G>C (p.Gly273Arg) http://identifiers.org/clinvar/294955 ^@ NM_000537.3(REN):c.663G>A (p.Glu221=) http://identifiers.org/clinvar/294962 ^@ NM_000537.3(REN):c.374-13G>A http://identifiers.org/clinvar/294982 ^@ NM_002389.4(CD46):c.*614T>C http://identifiers.org/clinvar/294988 ^@ NM_002389.4(CD46):c.*1111C>G http://identifiers.org/clinvar/296712 ^@ NM_001035.2(RYR2):c.1712T>A (p.Ile571Asn) http://identifiers.org/clinvar/294991 ^@ NM_002389.4(CD46):c.*1641A>G http://identifiers.org/clinvar/296395 ^@ NM_000081.3(LYST):c.4705A>C (p.Asn1569His) http://identifiers.org/clinvar/294964 ^@ NM_000537.3(REN):c.22C>G (p.Pro8Ala) http://identifiers.org/clinvar/295007 ^@ NM_032409.2(PINK1):c.1578G>C (p.Lys526Asn) http://identifiers.org/clinvar/296396 ^@ NM_000081.3(LYST):c.4566A>C (p.Ala1522=) http://identifiers.org/clinvar/296714 ^@ NM_001035.2(RYR2):c.2204-10C>A http://identifiers.org/clinvar/296717 ^@ NM_001035.2(RYR2):c.3105C>T (p.Tyr1035=) http://identifiers.org/clinvar/296397 ^@ NM_000081.3(LYST):c.4337G>A (p.Arg1446Gln) http://identifiers.org/clinvar/296399 ^@ NM_000081.3(LYST):c.3898A>G (p.Ile1300Val) http://identifiers.org/clinvar/296408 ^@ NM_000081.3(LYST):c.3083C>G (p.Ser1028Cys) http://identifiers.org/clinvar/294994 ^@ NM_002389.4(CD46):c.*1875T>G http://identifiers.org/clinvar/295058 ^@ NM_000228.2(LAMB3):c.*275C>T http://identifiers.org/clinvar/295012 ^@ NM_032409.2(PINK1):c.*121G>A http://identifiers.org/clinvar/296721 ^@ NM_001035.2(RYR2):c.3898A>C (p.Met1300Leu) http://identifiers.org/clinvar/296722 ^@ NM_001035.2(RYR2):c.4044G>A (p.Lys1348=) http://identifiers.org/clinvar/295015 ^@ NM_032409.2(PINK1):c.*265G>T http://identifiers.org/clinvar/295024 ^@ NM_032409.2(PINK1):c.*564T>G http://identifiers.org/clinvar/295030 ^@ NM_032409.2(PINK1):c.*672T>C http://identifiers.org/clinvar/295062 ^@ NM_000228.2(LAMB3):c.3404G>A (p.Arg1135Gln) http://identifiers.org/clinvar/296411 ^@ NM_000081.3(LYST):c.2945A>G (p.Tyr982Cys) http://identifiers.org/clinvar/295063 ^@ NM_000228.2(LAMB3):c.3382+8A>G http://identifiers.org/clinvar/296419 ^@ NM_000081.3(LYST):c.2687A>G (p.Asn896Ser) http://identifiers.org/clinvar/296421 ^@ NM_000081.3(LYST):c.2517T>C (p.Ile839=) http://identifiers.org/clinvar/295043 ^@ NM_005216.4(DDOST):c.*566_*577delTAAATAAATAAA http://identifiers.org/clinvar/295070 ^@ NM_000228.2(LAMB3):c.3124C>T (p.Arg1042Trp) http://identifiers.org/clinvar/295073 ^@ NM_000228.2(LAMB3):c.3007G>A (p.Gly1003Ser) http://identifiers.org/clinvar/296727 ^@ NM_001035.2(RYR2):c.5078A>G (p.Tyr1693Cys) http://identifiers.org/clinvar/295045 ^@ NM_005216.4(DDOST):c.*544A>T http://identifiers.org/clinvar/295048 ^@ NM_005216.4(DDOST):c.*457A>C http://identifiers.org/clinvar/295050 ^@ NM_005216.4(DDOST):c.*375_*376dupAA http://identifiers.org/clinvar/296422 ^@ NM_000081.3(LYST):c.2363+10dupT http://identifiers.org/clinvar/296424 ^@ NM_000081.3(LYST):c.2258G>A (p.Ser753Asn) http://identifiers.org/clinvar/296730 ^@ NM_001035.2(RYR2):c.6216G>A (p.Glu2072=) http://identifiers.org/clinvar/296427 ^@ NM_000081.3(LYST):c.1725G>A (p.Ser575=) http://identifiers.org/clinvar/296732 ^@ NM_001035.2(RYR2):c.7477C>G (p.Leu2493Val) http://identifiers.org/clinvar/296734 ^@ NM_001035.2(RYR2):c.8493T>C (p.Val2831=) http://identifiers.org/clinvar/295077 ^@ NM_000228.2(LAMB3):c.2873G>A (p.Arg958His) http://identifiers.org/clinvar/295084 ^@ NM_000228.2(LAMB3):c.2615C>A (p.Thr872Asn) http://identifiers.org/clinvar/296735 ^@ NM_001035.2(RYR2):c.8508C>T (p.Asp2836=) http://identifiers.org/clinvar/296736 ^@ NM_001035.2(RYR2):c.8515-7A>G http://identifiers.org/clinvar/296739 ^@ NM_001035.2(RYR2):c.9338G>A (p.Gly3113Asp) http://identifiers.org/clinvar/295079 ^@ NM_005216.4(DDOST):c.1147G>A (p.Asp383Asn) http://identifiers.org/clinvar/295082 ^@ NM_005216.4(DDOST):c.1050C>T (p.Gly350=) http://identifiers.org/clinvar/296433 ^@ NM_000081.3(LYST):c.643C>T (p.Pro215Ser) http://identifiers.org/clinvar/295095 ^@ NM_000228.2(LAMB3):c.2124T>C (p.Ser708=) http://identifiers.org/clinvar/295098 ^@ NM_000228.2(LAMB3):c.1807C>T (p.Arg603Cys) http://identifiers.org/clinvar/296434 ^@ NM_000081.3(LYST):c.368A>G (p.His123Arg) http://identifiers.org/clinvar/296436 ^@ NM_000081.3(LYST):c.244C>T (p.Leu82=) http://identifiers.org/clinvar/296444 ^@ NM_000081.3(LYST):c.-134G>A http://identifiers.org/clinvar/296446 ^@ NM_000081.3(LYST):c.-140G>C http://identifiers.org/clinvar/296448 ^@ NM_145861.2(EDARADD):c.115A>G (p.Asn39Asp) http://identifiers.org/clinvar/295141 ^@ NM_005216.4(DDOST):c.714G>A (p.Gly238=) http://identifiers.org/clinvar/296457 ^@ NM_145861.2(EDARADD):c.*285G>A http://identifiers.org/clinvar/296742 ^@ NM_001035.2(RYR2):c.9755A>G (p.His3252Arg) http://identifiers.org/clinvar/296458 ^@ NM_145861.2(EDARADD):c.*351_*352delGT http://identifiers.org/clinvar/296744 ^@ NM_001035.2(RYR2):c.9927A>G (p.Lys3309=) http://identifiers.org/clinvar/295148 ^@ NM_005216.4(DDOST):c.508-14T>A http://identifiers.org/clinvar/296461 ^@ NM_145861.2(EDARADD):c.*586T>C http://identifiers.org/clinvar/295158 ^@ NM_005216.4(DDOST):c.206_211delACCGGG (p.Asp69_Arg70del) http://identifiers.org/clinvar/296746 ^@ NM_001035.2(RYR2):c.10008G>A (p.Glu3336=) http://identifiers.org/clinvar/296749 ^@ NM_001035.2(RYR2):c.10962A>C (p.Glu3654Asp) http://identifiers.org/clinvar/295163 ^@ NM_005216.4(DDOST):c.16T>G (p.Cys6Gly) http://identifiers.org/clinvar/295164 ^@ NM_005216.4(DDOST):c.-29G>T http://identifiers.org/clinvar/295167 ^@ NM_005216.4(DDOST):c.-98T>C http://identifiers.org/clinvar/296758 ^@ NM_001035.2(RYR2):c.12083C>T (p.Ser4028Leu) http://identifiers.org/clinvar/296772 ^@ NM_001035.2(RYR2):c.*129C>G http://identifiers.org/clinvar/294967 ^@ NM_002389.4(CD46):c.118A>G (p.Thr40Ala) http://identifiers.org/clinvar/294969 ^@ NM_002389.4(CD46):c.574G>C (p.Asp192His) http://identifiers.org/clinvar/295111 ^@ NM_000228.2(LAMB3):c.1267G>A (p.Ala423Thr) http://identifiers.org/clinvar/296464 ^@ NM_145861.2(EDARADD):c.*682G>A http://identifiers.org/clinvar/296775 ^@ NM_001035.2(RYR2):c.*187C>A http://identifiers.org/clinvar/296467 ^@ NM_145861.2(EDARADD):c.*863C>T http://identifiers.org/clinvar/294974 ^@ NM_002389.4(CD46):c.994C>G (p.Pro332Ala) http://identifiers.org/clinvar/296776 ^@ NM_001035.2(RYR2):c.*206C>A http://identifiers.org/clinvar/294977 ^@ NM_002389.4(CD46):c.*31A>G http://identifiers.org/clinvar/296778 ^@ NM_001035.2(RYR2):c.*299C>G http://identifiers.org/clinvar/296788 ^@ NM_001035.2(RYR2):c.*646delA http://identifiers.org/clinvar/296797 ^@ NM_001035.2(RYR2):c.*713C>G http://identifiers.org/clinvar/295120 ^@ NM_000228.2(LAMB3):c.978delC (p.Phe327Leufs) http://identifiers.org/clinvar/295121 ^@ NM_000228.2(LAMB3):c.970A>G (p.Thr324Ala) http://identifiers.org/clinvar/296477 ^@ NM_145861.2(EDARADD):c.*1593G>T http://identifiers.org/clinvar/295059 ^@ NM_000228.2(LAMB3):c.*102C>T http://identifiers.org/clinvar/296798 ^@ NM_001035.2(RYR2):c.*715_*716insGC http://identifiers.org/clinvar/295064 ^@ NM_000228.2(LAMB3):c.3329C>T (p.Thr1110Ile) http://identifiers.org/clinvar/295122 ^@ NM_000228.2(LAMB3):c.943A>C (p.Arg315=) http://identifiers.org/clinvar/295078 ^@ NM_000228.2(LAMB3):c.2831A>G (p.Asn944Ser) http://identifiers.org/clinvar/295080 ^@ NM_000228.2(LAMB3):c.2723C>T (p.Thr908Ile) http://identifiers.org/clinvar/295131 ^@ NM_000228.2(LAMB3):c.689G>C (p.Arg230Thr) http://identifiers.org/clinvar/295083 ^@ NM_000228.2(LAMB3):c.2646G>A (p.Glu882=) http://identifiers.org/clinvar/296804 ^@ NM_001035.2(RYR2):c.*946C>T http://identifiers.org/clinvar/295088 ^@ NM_000228.2(LAMB3):c.2496G>A (p.Ala832=) http://identifiers.org/clinvar/295133 ^@ NM_000228.2(LAMB3):c.582G>T (p.Met194Ile) http://identifiers.org/clinvar/295138 ^@ NM_000228.2(LAMB3):c.547C>T (p.Arg183Cys) http://identifiers.org/clinvar/295139 ^@ NM_000228.2(LAMB3):c.541A>G (p.Asn181Asp) http://identifiers.org/clinvar/295172 ^@ NM_006147.3(IRF6):c.*2394dupA http://identifiers.org/clinvar/295173 ^@ NM_006147.3(IRF6):c.*2344C>T http://identifiers.org/clinvar/295175 ^@ NM_006147.3(IRF6):c.*2151C>A http://identifiers.org/clinvar/295177 ^@ NM_006147.3(IRF6):c.*2064G>A http://identifiers.org/clinvar/296478 ^@ NM_145861.2(EDARADD):c.*1601C>A http://identifiers.org/clinvar/296479 ^@ NM_145861.2(EDARADD):c.*1601C>G http://identifiers.org/clinvar/295179 ^@ NM_006147.3(IRF6):c.*1844G>A http://identifiers.org/clinvar/296483 ^@ NM_145861.2(EDARADD):c.*1871C>T http://identifiers.org/clinvar/295180 ^@ NM_006147.3(IRF6):c.*1767G>A http://identifiers.org/clinvar/295184 ^@ NM_006147.3(IRF6):c.*1329C>T http://identifiers.org/clinvar/295187 ^@ NM_006147.3(IRF6):c.*1123T>C http://identifiers.org/clinvar/296812 ^@ NM_001035.2(RYR2):c.*1307C>T http://identifiers.org/clinvar/296824 ^@ NM_000403.3(GALE):c.*327A>T http://identifiers.org/clinvar/295190 ^@ NM_006147.3(IRF6):c.*840A>G http://identifiers.org/clinvar/295195 ^@ NM_006147.3(IRF6):c.*591T>G http://identifiers.org/clinvar/295201 ^@ NM_006147.3(IRF6):c.*353T>C http://identifiers.org/clinvar/295203 ^@ NM_006147.3(IRF6):c.*279T>C http://identifiers.org/clinvar/296485 ^@ NM_145861.2(EDARADD):c.*1985A>G http://identifiers.org/clinvar/296487 ^@ NM_145861.2(EDARADD):c.*2052C>T http://identifiers.org/clinvar/296826 ^@ NM_000403.3(GALE):c.955G>C (p.Gly319Arg) http://identifiers.org/clinvar/296489 ^@ NM_145861.2(EDARADD):c.*2059delG http://identifiers.org/clinvar/295089 ^@ NM_000228.2(LAMB3):c.2473G>A (p.Ala825Thr) http://identifiers.org/clinvar/296490 ^@ NM_001103.3(ACTN2):c.-159C>T http://identifiers.org/clinvar/296830 ^@ NM_000403.3(GALE):c.648G>A (p.Ala216=) http://identifiers.org/clinvar/296493 ^@ NM_001103.3(ACTN2):c.-84_-78delCGCCGCC http://identifiers.org/clinvar/295207 ^@ NM_006147.3(IRF6):c.1007T>G (p.Leu336Arg) http://identifiers.org/clinvar/295209 ^@ NM_006147.3(IRF6):c.598A>G (p.Met200Val) http://identifiers.org/clinvar/296492 ^@ NM_001103.3(ACTN2):c.-84_-78dupCGCCGCC http://identifiers.org/clinvar/296832 ^@ NM_000403.3(GALE):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/295091 ^@ NM_000228.2(LAMB3):c.2419C>A (p.Pro807Thr) http://identifiers.org/clinvar/295213 ^@ NM_006147.3(IRF6):c.-44G>A http://identifiers.org/clinvar/296497 ^@ NM_001103.3(ACTN2):c.126+15G>C http://identifiers.org/clinvar/296501 ^@ NM_001103.3(ACTN2):c.918C>T (p.Asn306=) http://identifiers.org/clinvar/296833 ^@ NM_000403.3(GALE):c.450G>A (p.Thr150=) http://identifiers.org/clinvar/296835 ^@ NM_000403.3(GALE):c.423C>T (p.Tyr141=) http://identifiers.org/clinvar/296511 ^@ NM_001103.3(ACTN2):c.*43A>C http://identifiers.org/clinvar/296516 ^@ NM_001103.3(ACTN2):c.*423A>G http://identifiers.org/clinvar/296517 ^@ NM_001103.3(ACTN2):c.*447C>G http://identifiers.org/clinvar/295093 ^@ NM_000228.2(LAMB3):c.2359-15G>A http://identifiers.org/clinvar/296523 ^@ NM_001103.3(ACTN2):c.*954G>A http://identifiers.org/clinvar/295096 ^@ NM_000228.2(LAMB3):c.2069A>G (p.Asn690Ser) http://identifiers.org/clinvar/296525 ^@ NM_001103.3(ACTN2):c.*1087G>A http://identifiers.org/clinvar/295215 ^@ NM_006147.3(IRF6):c.-75-4A>G http://identifiers.org/clinvar/295216 ^@ NM_006147.3(IRF6):c.-98T>C http://identifiers.org/clinvar/296842 ^@ NM_000191.2(HMGCL):c.*414G>A http://identifiers.org/clinvar/296844 ^@ NM_000191.2(HMGCL):c.*289G>T http://identifiers.org/clinvar/295219 ^@ NM_006147.3(IRF6):c.-302A>T http://identifiers.org/clinvar/295222 ^@ NM_183059.2(RD3):c.*2402A>G http://identifiers.org/clinvar/296531 ^@ NM_001103.3(ACTN2):c.*1288T>G http://identifiers.org/clinvar/296854 ^@ NM_000191.2(HMGCL):c.254T>C (p.Met85Thr) http://identifiers.org/clinvar/295229 ^@ NM_183059.2(RD3):c.*1672C>T http://identifiers.org/clinvar/296541 ^@ NM_000254.2(MTR):c.-151C>T http://identifiers.org/clinvar/296544 ^@ NM_000254.2(MTR):c.-108G>C http://identifiers.org/clinvar/295232 ^@ NM_183059.2(RD3):c.*1634G>A http://identifiers.org/clinvar/295099 ^@ NM_000228.2(LAMB3):c.1764T>C (p.Tyr588=) http://identifiers.org/clinvar/295236 ^@ NM_183059.2(RD3):c.*1555T>C http://identifiers.org/clinvar/295101 ^@ NM_000228.2(LAMB3):c.1667G>A (p.Arg556His) http://identifiers.org/clinvar/295102 ^@ NM_000228.2(LAMB3):c.1666C>T (p.Arg556Cys) http://identifiers.org/clinvar/295237 ^@ NM_183059.2(RD3):c.*1343G>C http://identifiers.org/clinvar/295240 ^@ NM_183059.2(RD3):c.*1307_*1308insCT http://identifiers.org/clinvar/295103 ^@ NM_000228.2(LAMB3):c.1615C>T (p.Arg539Trp) http://identifiers.org/clinvar/296880 ^@ NM_000147.4(FUCA1):c.*544T>A http://identifiers.org/clinvar/295106 ^@ NM_000228.2(LAMB3):c.1546A>G (p.Ile516Val) http://identifiers.org/clinvar/296881 ^@ NM_000147.4(FUCA1):c.*527A>G http://identifiers.org/clinvar/295246 ^@ NM_183059.2(RD3):c.*882C>T http://identifiers.org/clinvar/295250 ^@ NM_183059.2(RD3):c.*471C>T http://identifiers.org/clinvar/296551 ^@ NM_000254.2(MTR):c.409+7A>C http://identifiers.org/clinvar/296882 ^@ NM_000147.4(FUCA1):c.*438_*442delGCAGG http://identifiers.org/clinvar/296885 ^@ NM_000147.4(FUCA1):c.1148C>T (p.Thr383Ile) http://identifiers.org/clinvar/296552 ^@ NM_000254.2(MTR):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/296553 ^@ NM_000254.2(MTR):c.742G>A (p.Val248Met) http://identifiers.org/clinvar/296555 ^@ NM_000254.2(MTR):c.928-11C>A http://identifiers.org/clinvar/295108 ^@ NM_000228.2(LAMB3):c.1439C>T (p.Pro480Leu) http://identifiers.org/clinvar/296887 ^@ NM_000147.4(FUCA1):c.825A>T (p.Gly275=) http://identifiers.org/clinvar/296561 ^@ NM_000254.2(MTR):c.1141G>A (p.Ala381Thr) http://identifiers.org/clinvar/296889 ^@ NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) http://identifiers.org/clinvar/296562 ^@ NM_000254.2(MTR):c.1232A>C (p.Gln411Pro) http://identifiers.org/clinvar/296567 ^@ NM_000254.2(MTR):c.2044-11delG http://identifiers.org/clinvar/296578 ^@ NM_000254.2(MTR):c.3491G>A (p.Arg1164His) http://identifiers.org/clinvar/296895 ^@ NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) http://identifiers.org/clinvar/296580 ^@ NM_000254.2(MTR):c.3500G>A (p.Arg1167Gln) http://identifiers.org/clinvar/296896 ^@ NM_000147.4(FUCA1):c.4C>A (p.Arg2=) http://identifiers.org/clinvar/296897 ^@ NM_000147.4(FUCA1):c.-44G>A http://identifiers.org/clinvar/296581 ^@ NM_000254.2(MTR):c.3583A>G (p.Ile1195Val) http://identifiers.org/clinvar/295256 ^@ NM_183059.2(RD3):c.468C>T (p.Arg156=) http://identifiers.org/clinvar/295257 ^@ NM_183059.2(RD3):c.259A>G (p.Lys87Glu) http://identifiers.org/clinvar/295259 ^@ NM_183059.2(RD3):c.227T>C (p.Ile76Thr) http://identifiers.org/clinvar/295263 ^@ NM_183059.2(RD3):c.-142C>T http://identifiers.org/clinvar/296254 ^@ NM_153818.1(PEX10):c.*835C>T http://identifiers.org/clinvar/296259 ^@ NM_153818.1(PEX10):c.*688G>T http://identifiers.org/clinvar/296261 ^@ NM_153818.1(PEX10):c.*594C>T http://identifiers.org/clinvar/295270 ^@ NM_183059.2(RD3):c.-294T>C http://identifiers.org/clinvar/295276 ^@ NM_183059.2(RD3):c.-297_-296delAC http://identifiers.org/clinvar/296277 ^@ NM_153818.1(PEX10):c.745G>C (p.Val249Leu) http://identifiers.org/clinvar/295274 ^@ NM_183059.2(RD3):c.-301_-296delACACAC http://identifiers.org/clinvar/295110 ^@ NM_000228.2(LAMB3):c.1312T>A (p.Ser438Thr) http://identifiers.org/clinvar/296586 ^@ NM_000254.2(MTR):c.*16delT http://identifiers.org/clinvar/296857 ^@ NM_000143.3(FH):c.*266A>G http://identifiers.org/clinvar/296601 ^@ NM_000254.2(MTR):c.*943T>C http://identifiers.org/clinvar/295115 ^@ NM_000228.2(LAMB3):c.1090C>T (p.Arg364Trp) http://identifiers.org/clinvar/295118 ^@ NM_000228.2(LAMB3):c.1015T>C (p.Tyr339His) http://identifiers.org/clinvar/295286 ^@ NM_183059.2(RD3):c.-343G>A http://identifiers.org/clinvar/295289 ^@ NM_183059.2(RD3):c.-359C>T http://identifiers.org/clinvar/295296 ^@ NM_183059.2(RD3):c.-640G>A http://identifiers.org/clinvar/296603 ^@ NM_000254.2(MTR):c.*1022G>T http://identifiers.org/clinvar/295132 ^@ NM_000228.2(LAMB3):c.671T>C (p.Leu224Pro) http://identifiers.org/clinvar/296604 ^@ NM_000254.2(MTR):c.*1030A>G http://identifiers.org/clinvar/296612 ^@ NM_000254.2(MTR):c.*1383C>T http://identifiers.org/clinvar/296617 ^@ NM_000254.2(MTR):c.*1657C>T http://identifiers.org/clinvar/295310 ^@ NM_014053.3(FLVCR1):c.-36G>A http://identifiers.org/clinvar/296621 ^@ NM_000254.2(MTR):c.*1785A>G http://identifiers.org/clinvar/295142 ^@ NM_000228.2(LAMB3):c.372+10C>T http://identifiers.org/clinvar/296858 ^@ NM_000143.3(FH):c.*221_*222delTT http://identifiers.org/clinvar/295143 ^@ NM_000228.2(LAMB3):c.271C>A (p.Pro91Thr) http://identifiers.org/clinvar/295151 ^@ NM_000228.2(LAMB3):c.67C>T (p.Arg23Cys) http://identifiers.org/clinvar/296860 ^@ NM_000143.3(FH):c.*92G>T http://identifiers.org/clinvar/295168 ^@ NM_006147.3(IRF6):c.*2795G>A http://identifiers.org/clinvar/296868 ^@ NM_000143.3(FH):c.1237-20_1237-13dupTCTCTCTC http://identifiers.org/clinvar/296624 ^@ NM_000254.2(MTR):c.*1912G>T http://identifiers.org/clinvar/295178 ^@ NM_006147.3(IRF6):c.*1893C>T http://identifiers.org/clinvar/295311 ^@ NM_014053.3(FLVCR1):c.42C>T (p.Pro14=) http://identifiers.org/clinvar/296873 ^@ NM_000143.3(FH):c.905-5T>A http://identifiers.org/clinvar/296878 ^@ NM_000143.3(FH):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/296879 ^@ NM_000143.3(FH):c.-48G>T http://identifiers.org/clinvar/295189 ^@ NM_006147.3(IRF6):c.*843T>G http://identifiers.org/clinvar/295191 ^@ NM_006147.3(IRF6):c.*804_*805insT http://identifiers.org/clinvar/296898 ^@ NM_006642.3(SDCCAG8):c.-131T>C http://identifiers.org/clinvar/295192 ^@ NM_006147.3(IRF6):c.*803dupG http://identifiers.org/clinvar/295193 ^@ NM_006147.3(IRF6):c.*742A>T http://identifiers.org/clinvar/295198 ^@ NM_006147.3(IRF6):c.*479T>G http://identifiers.org/clinvar/295199 ^@ NM_006147.3(IRF6):c.*451A>G http://identifiers.org/clinvar/295206 ^@ NM_006147.3(IRF6):c.1388C>T (p.Ala463Val) http://identifiers.org/clinvar/295220 ^@ NM_183059.2(RD3):c.*2503G>T http://identifiers.org/clinvar/296900 ^@ NM_006642.3(SDCCAG8):c.-121C>T http://identifiers.org/clinvar/295225 ^@ NM_183059.2(RD3):c.*2138T>C http://identifiers.org/clinvar/296901 ^@ NM_006642.3(SDCCAG8):c.-106G>T http://identifiers.org/clinvar/296637 ^@ NM_000254.2(MTR):c.*2775_*2776delGA http://identifiers.org/clinvar/295227 ^@ NM_183059.2(RD3):c.*2081C>T http://identifiers.org/clinvar/295228 ^@ NM_183059.2(RD3):c.*1983C>T http://identifiers.org/clinvar/295312 ^@ NM_014053.3(FLVCR1):c.51G>C (p.Pro17=) http://identifiers.org/clinvar/296648 ^@ NM_000254.2(MTR):c.*3322C>G http://identifiers.org/clinvar/296905 ^@ NM_006642.3(SDCCAG8):c.278C>T (p.Pro93Leu) http://identifiers.org/clinvar/295327 ^@ NM_014053.3(FLVCR1):c.*8G>A http://identifiers.org/clinvar/295231 ^@ NM_183059.2(RD3):c.*1649T>C http://identifiers.org/clinvar/295233 ^@ NM_183059.2(RD3):c.*1583delG http://identifiers.org/clinvar/295235 ^@ NM_183059.2(RD3):c.*1582delT http://identifiers.org/clinvar/296651 ^@ NM_000254.2(MTR):c.*3464A>G http://identifiers.org/clinvar/295234 ^@ NM_183059.2(RD3):c.*1582dupT http://identifiers.org/clinvar/296914 ^@ NM_006642.3(SDCCAG8):c.1525C>G (p.Gln509Glu) http://identifiers.org/clinvar/296923 ^@ NM_004895.4(NLRP3):c.-704C>T http://identifiers.org/clinvar/295239 ^@ NM_183059.2(RD3):c.*1331G>A http://identifiers.org/clinvar/296925 ^@ NM_004895.4(NLRP3):c.-623C>T http://identifiers.org/clinvar/296655 ^@ NM_000254.2(MTR):c.*3682T>G http://identifiers.org/clinvar/296656 ^@ NM_000254.2(MTR):c.*3683_*3684insTTAA http://identifiers.org/clinvar/296936 ^@ NM_004895.4(NLRP3):c.-62C>T http://identifiers.org/clinvar/295243 ^@ NM_183059.2(RD3):c.*1281G>A http://identifiers.org/clinvar/295244 ^@ NM_183059.2(RD3):c.*1277G>A http://identifiers.org/clinvar/296937 ^@ NM_004895.4(NLRP3):c.-34G>T http://identifiers.org/clinvar/296664 ^@ NM_000254.2(MTR):c.*4148A>G http://identifiers.org/clinvar/295328 ^@ NM_014053.3(FLVCR1):c.*32T>C http://identifiers.org/clinvar/296946 ^@ NM_004895.4(NLRP3):c.1251C>T (p.Ile417=) http://identifiers.org/clinvar/296666 ^@ NM_000254.2(MTR):c.*4292G>A http://identifiers.org/clinvar/296671 ^@ NM_000254.2(MTR):c.*4443C>T http://identifiers.org/clinvar/296950 ^@ NM_004895.4(NLRP3):c.2220C>T (p.Ser740=) http://identifiers.org/clinvar/296673 ^@ NM_000254.2(MTR):c.*4639G>T http://identifiers.org/clinvar/295330 ^@ NM_014053.3(FLVCR1):c.*279T>C http://identifiers.org/clinvar/296674 ^@ NM_000254.2(MTR):c.*4648G>A http://identifiers.org/clinvar/296951 ^@ NM_004895.4(NLRP3):c.2307C>G (p.Gly769=) http://identifiers.org/clinvar/296952 ^@ NM_004895.4(NLRP3):c.2430C>T (p.Leu810=) http://identifiers.org/clinvar/296956 ^@ NM_004895.4(NLRP3):c.*230G>C http://identifiers.org/clinvar/296965 ^@ NM_015627.2(LDLRAP1):c.-100G>A http://identifiers.org/clinvar/295248 ^@ NM_183059.2(RD3):c.*590T>C http://identifiers.org/clinvar/295249 ^@ NM_183059.2(RD3):c.*527G>C http://identifiers.org/clinvar/295251 ^@ NM_183059.2(RD3):c.*368A>T http://identifiers.org/clinvar/296967 ^@ NM_015627.2(LDLRAP1):c.-70A>T http://identifiers.org/clinvar/296969 ^@ NM_015627.2(LDLRAP1):c.-46G>C http://identifiers.org/clinvar/295253 ^@ NM_183059.2(RD3):c.545G>A (p.Arg182Gln) http://identifiers.org/clinvar/295254 ^@ NM_183059.2(RD3):c.527A>G (p.Asp176Gly) http://identifiers.org/clinvar/295255 ^@ NM_183059.2(RD3):c.493G>A (p.Asp165Asn) http://identifiers.org/clinvar/295335 ^@ NM_014053.3(FLVCR1):c.*377T>C http://identifiers.org/clinvar/296974 ^@ NM_015627.2(LDLRAP1):c.201G>A (p.Ser67=) http://identifiers.org/clinvar/295343 ^@ NM_014053.3(FLVCR1):c.*839T>G http://identifiers.org/clinvar/295260 ^@ NM_183059.2(RD3):c.134G>A (p.Arg45Gln) http://identifiers.org/clinvar/296982 ^@ NM_015627.2(LDLRAP1):c.604T>C (p.Ser202Pro) http://identifiers.org/clinvar/296987 ^@ NM_015627.2(LDLRAP1):c.861C>T (p.Leu287=) http://identifiers.org/clinvar/295262 ^@ NM_183059.2(RD3):c.-28G>A http://identifiers.org/clinvar/296675 ^@ NM_000254.2(MTR):c.*4776A>C http://identifiers.org/clinvar/295352 ^@ NM_014053.3(FLVCR1):c.*1151A>G http://identifiers.org/clinvar/295353 ^@ NM_014053.3(FLVCR1):c.*1174C>T http://identifiers.org/clinvar/296677 ^@ NM_000254.2(MTR):c.*4866T>G http://identifiers.org/clinvar/296992 ^@ NM_015627.2(LDLRAP1):c.*331C>T http://identifiers.org/clinvar/296686 ^@ NM_000254.2(MTR):c.*5352C>G http://identifiers.org/clinvar/295264 ^@ NM_183059.2(RD3):c.-167_-166delGA http://identifiers.org/clinvar/296993 ^@ NM_015627.2(LDLRAP1):c.*449delT http://identifiers.org/clinvar/295268 ^@ NM_183059.2(RD3):c.-295_-294delCT http://identifiers.org/clinvar/295269 ^@ NM_183059.2(RD3):c.-296_-295dupCC http://identifiers.org/clinvar/296687 ^@ NM_000254.2(MTR):c.*5497dupA http://identifiers.org/clinvar/296688 ^@ NM_000254.2(MTR):c.*5535G>A http://identifiers.org/clinvar/295271 ^@ NM_183059.2(RD3):c.-297_-296dupAC http://identifiers.org/clinvar/295273 ^@ NM_183059.2(RD3):c.-299_-296delACAC http://identifiers.org/clinvar/295272 ^@ NM_183059.2(RD3):c.-299_-296dupACAC http://identifiers.org/clinvar/296689 ^@ NM_000254.2(MTR):c.*5537T>C http://identifiers.org/clinvar/297003 ^@ NM_015627.2(LDLRAP1):c.*868C>G http://identifiers.org/clinvar/297005 ^@ NM_015627.2(LDLRAP1):c.*961A>G http://identifiers.org/clinvar/295275 ^@ NM_183059.2(RD3):c.-307_-296delACACACACACAC http://identifiers.org/clinvar/295283 ^@ NM_183059.2(RD3):c.-335A>G http://identifiers.org/clinvar/295287 ^@ NM_183059.2(RD3):c.-344C>T http://identifiers.org/clinvar/295356 ^@ NM_014053.3(FLVCR1):c.*1422T>A http://identifiers.org/clinvar/297012 ^@ NM_015627.2(LDLRAP1):c.*1395C>G http://identifiers.org/clinvar/295358 ^@ NM_014053.3(FLVCR1):c.*1566A>T http://identifiers.org/clinvar/297013 ^@ NM_015627.2(LDLRAP1):c.*1430C>T http://identifiers.org/clinvar/297016 ^@ NM_015627.2(LDLRAP1):c.*1556A>C http://identifiers.org/clinvar/296694 ^@ NM_000254.2(MTR):c.*5909C>T http://identifiers.org/clinvar/297018 ^@ NM_015627.2(LDLRAP1):c.*1682C>A http://identifiers.org/clinvar/297019 ^@ NM_015627.2(LDLRAP1):c.*1718delG http://identifiers.org/clinvar/296696 ^@ NM_000254.2(MTR):c.*5977A>T http://identifiers.org/clinvar/296698 ^@ NM_000254.2(MTR):c.*6243A>G http://identifiers.org/clinvar/295294 ^@ NM_183059.2(RD3):c.-556G>A http://identifiers.org/clinvar/297021 ^@ NM_015627.2(LDLRAP1):c.*1755C>T http://identifiers.org/clinvar/296814 ^@ NM_000975.3(RPL11):c.-14T>C http://identifiers.org/clinvar/297022 ^@ NM_020451.2(SELENON):c.-14C>A http://identifiers.org/clinvar/295360 ^@ NM_014053.3(FLVCR1):c.*1609A>G http://identifiers.org/clinvar/295362 ^@ NM_014053.3(FLVCR1):c.*1739C>T http://identifiers.org/clinvar/296819 ^@ NM_000975.3(RPL11):c.270G>A (p.Arg90=) http://identifiers.org/clinvar/297024 ^@ NM_020451.2(SELENON):c.550G>C (p.Ala184Pro) http://identifiers.org/clinvar/295297 ^@ NM_183059.2(RD3):c.-712G>C http://identifiers.org/clinvar/297027 ^@ NM_020451.2(SELENON):c.1110G>A (p.Thr370=) http://identifiers.org/clinvar/295298 ^@ NM_183059.2(RD3):c.-714G>C http://identifiers.org/clinvar/295300 ^@ NM_183059.2(RD3):c.-925G>A http://identifiers.org/clinvar/295301 ^@ NM_183059.2(RD3):c.-1034G>A http://identifiers.org/clinvar/297029 ^@ NM_020451.2(SELENON):c.1575G>A (p.Met525Ile) http://identifiers.org/clinvar/295315 ^@ NM_014053.3(FLVCR1):c.595C>T (p.Leu199Phe) http://identifiers.org/clinvar/297031 ^@ NM_020451.2(SELENON):c.1704G>A (p.Pro568=) http://identifiers.org/clinvar/297034 ^@ NM_020451.2(SELENON):c.*228C>T http://identifiers.org/clinvar/297036 ^@ NM_020451.2(SELENON):c.*267C>G http://identifiers.org/clinvar/296699 ^@ NM_001035.2(RYR2):c.-63G>T http://identifiers.org/clinvar/296700 ^@ NM_001035.2(RYR2):c.-27C>A http://identifiers.org/clinvar/296707 ^@ NM_001035.2(RYR2):c.849-10T>C http://identifiers.org/clinvar/296715 ^@ NM_001035.2(RYR2):c.2643A>C (p.Ile881=) http://identifiers.org/clinvar/295318 ^@ NM_014053.3(FLVCR1):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/296719 ^@ NM_001035.2(RYR2):c.3400G>T (p.Ala1134Ser) http://identifiers.org/clinvar/295319 ^@ NM_014053.3(FLVCR1):c.952G>A (p.Glu318Lys) http://identifiers.org/clinvar/296723 ^@ NM_001035.2(RYR2):c.4250A>G (p.Tyr1417Cys) http://identifiers.org/clinvar/295322 ^@ NM_014053.3(FLVCR1):c.1059G>A (p.Thr353=) http://identifiers.org/clinvar/295326 ^@ NM_014053.3(FLVCR1):c.1657T>G (p.Ser553Ala) http://identifiers.org/clinvar/296724 ^@ NM_001035.2(RYR2):c.4273A>G (p.Thr1425Ala) http://identifiers.org/clinvar/297038 ^@ NM_020451.2(SELENON):c.*646A>G http://identifiers.org/clinvar/296731 ^@ NM_001035.2(RYR2):c.6689-3T>A http://identifiers.org/clinvar/295329 ^@ NM_014053.3(FLVCR1):c.*166G>A http://identifiers.org/clinvar/295364 ^@ NM_014053.3(FLVCR1):c.*1793C>T http://identifiers.org/clinvar/295365 ^@ NM_014053.3(FLVCR1):c.*1826C>T http://identifiers.org/clinvar/297044 ^@ NM_020451.2(SELENON):c.*855C>T http://identifiers.org/clinvar/295368 ^@ NM_014053.3(FLVCR1):c.*1908_*1923del16 http://identifiers.org/clinvar/295333 ^@ NM_014053.3(FLVCR1):c.*344T>C http://identifiers.org/clinvar/295370 ^@ NM_014053.3(FLVCR1):c.*1952C>A http://identifiers.org/clinvar/297045 ^@ NM_020451.2(SELENON):c.*1000G>A http://identifiers.org/clinvar/295373 ^@ NM_014053.3(FLVCR1):c.*2077_*2080dupCACA http://identifiers.org/clinvar/297046 ^@ NM_020451.2(SELENON):c.*1306G>A http://identifiers.org/clinvar/296737 ^@ NM_001035.2(RYR2):c.8759G>T (p.Arg2920Leu) http://identifiers.org/clinvar/295372 ^@ NM_014053.3(FLVCR1):c.*2079_*2080dupCA http://identifiers.org/clinvar/295377 ^@ NM_014053.3(FLVCR1):c.*2188C>T http://identifiers.org/clinvar/295334 ^@ NM_014053.3(FLVCR1):c.*353A>G http://identifiers.org/clinvar/295338 ^@ NM_014053.3(FLVCR1):c.*626T>A http://identifiers.org/clinvar/295378 ^@ NM_014053.3(FLVCR1):c.*2189G>A http://identifiers.org/clinvar/297053 ^@ NM_020451.2(SELENON):c.*1722T>C http://identifiers.org/clinvar/295341 ^@ NM_014053.3(FLVCR1):c.*788C>T http://identifiers.org/clinvar/295381 ^@ NM_014053.3(FLVCR1):c.*2419G>A http://identifiers.org/clinvar/297054 ^@ NM_020451.2(SELENON):c.*1731A>C http://identifiers.org/clinvar/297057 ^@ NM_020451.2(SELENON):c.*1985A>T http://identifiers.org/clinvar/297059 ^@ NM_020451.2(SELENON):c.*2207G>A http://identifiers.org/clinvar/295387 ^@ NM_014053.3(FLVCR1):c.*2813G>A http://identifiers.org/clinvar/295389 ^@ NM_014053.3(FLVCR1):c.*2908G>A http://identifiers.org/clinvar/296738 ^@ NM_001035.2(RYR2):c.9067+10C>T http://identifiers.org/clinvar/295348 ^@ NM_014053.3(FLVCR1):c.*891A>G http://identifiers.org/clinvar/297063 ^@ NM_020451.2(SELENON):c.*2283_*2285delCCT http://identifiers.org/clinvar/297064 ^@ NM_020451.2(SELENON):c.*2312T>C http://identifiers.org/clinvar/295349 ^@ NM_014053.3(FLVCR1):c.*923T>C http://identifiers.org/clinvar/295361 ^@ NM_014053.3(FLVCR1):c.*1627T>G http://identifiers.org/clinvar/296743 ^@ NM_001035.2(RYR2):c.9877G>A (p.Gly3293Arg) http://identifiers.org/clinvar/297068 ^@ NM_024887.3(DHDDS):c.-150G>A http://identifiers.org/clinvar/296747 ^@ NM_001035.2(RYR2):c.10323+13dupA http://identifiers.org/clinvar/295371 ^@ NM_014053.3(FLVCR1):c.*2059T>C http://identifiers.org/clinvar/296750 ^@ NM_001035.2(RYR2):c.11039+7T>C http://identifiers.org/clinvar/296755 ^@ NM_001035.2(RYR2):c.11754C>A (p.Asn3918Lys) http://identifiers.org/clinvar/296756 ^@ NM_001035.2(RYR2):c.11766G>A (p.Glu3922=) http://identifiers.org/clinvar/295395 ^@ NM_014053.3(FLVCR1):c.*3226T>C http://identifiers.org/clinvar/296761 ^@ NM_001035.2(RYR2):c.12404G>A (p.Arg4135His) http://identifiers.org/clinvar/297070 ^@ NM_024887.3(DHDDS):c.-119G>A http://identifiers.org/clinvar/297075 ^@ NM_024887.3(DHDDS):c.757G>A (p.Val253Met) http://identifiers.org/clinvar/296762 ^@ NM_001035.2(RYR2):c.12997A>G (p.Asn4333Asp) http://identifiers.org/clinvar/297084 ^@ NM_024887.3(DHDDS):c.*312C>T http://identifiers.org/clinvar/297086 ^@ NM_024887.3(DHDDS):c.*480A>G http://identifiers.org/clinvar/295400 ^@ NM_014053.3(FLVCR1):c.*3313G>T http://identifiers.org/clinvar/295541 ^@ NM_000478.5(ALPL):c.107C>T (p.Thr36Ile) http://identifiers.org/clinvar/297087 ^@ NM_024887.3(DHDDS):c.*515G>T http://identifiers.org/clinvar/295549 ^@ NM_000478.5(ALPL):c.1131G>A (p.Ala377=) http://identifiers.org/clinvar/296765 ^@ NM_001035.2(RYR2):c.13957-5C>G http://identifiers.org/clinvar/296767 ^@ NM_001035.2(RYR2):c.14808+12A>C http://identifiers.org/clinvar/295374 ^@ NM_014053.3(FLVCR1):c.*2075_*2080dupCACACA http://identifiers.org/clinvar/295550 ^@ NM_000478.5(ALPL):c.1274G>A (p.Gly425Asp) http://identifiers.org/clinvar/297088 ^@ NM_024887.3(DHDDS):c.*620C>T http://identifiers.org/clinvar/297098 ^@ NM_024887.3(DHDDS):c.*1300G>C http://identifiers.org/clinvar/296769 ^@ NM_001035.2(RYR2):c.*79C>A http://identifiers.org/clinvar/296774 ^@ NM_001035.2(RYR2):c.*167_*168dupCT http://identifiers.org/clinvar/296779 ^@ NM_001035.2(RYR2):c.*328C>T http://identifiers.org/clinvar/295554 ^@ NM_000478.5(ALPL):c.1506G>A (p.Ser502=) http://identifiers.org/clinvar/297099 ^@ NM_024887.3(DHDDS):c.*1343C>T http://identifiers.org/clinvar/297108 ^@ NM_024887.3(DHDDS):c.*2069A>G http://identifiers.org/clinvar/295562 ^@ NM_000478.5(ALPL):c.*204T>C http://identifiers.org/clinvar/295564 ^@ NM_000478.5(ALPL):c.*305C>T http://identifiers.org/clinvar/295566 ^@ NM_000478.5(ALPL):c.*388C>T http://identifiers.org/clinvar/296781 ^@ NM_001035.2(RYR2):c.*354A>G http://identifiers.org/clinvar/295567 ^@ NM_000478.5(ALPL):c.*433A>G http://identifiers.org/clinvar/297114 ^@ NM_017837.3(PIGV):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/297118 ^@ NM_017837.3(PIGV):c.808C>T (p.Arg270Cys) http://identifiers.org/clinvar/295383 ^@ NM_014053.3(FLVCR1):c.*2480T>G http://identifiers.org/clinvar/295384 ^@ NM_014053.3(FLVCR1):c.*2578G>A http://identifiers.org/clinvar/295388 ^@ NM_014053.3(FLVCR1):c.*2887C>T http://identifiers.org/clinvar/295569 ^@ NM_000478.5(ALPL):c.*473G>T http://identifiers.org/clinvar/297119 ^@ NM_017837.3(PIGV):c.851G>A (p.Gly284Asp) http://identifiers.org/clinvar/297120 ^@ NM_017837.3(PIGV):c.1008A>G (p.Ile336Met) http://identifiers.org/clinvar/295409 ^@ NM_007123.5(USH2A):c.*837A>G http://identifiers.org/clinvar/295411 ^@ NM_007123.5(USH2A):c.*787C>G http://identifiers.org/clinvar/297123 ^@ NM_017837.3(PIGV):c.1477A>G (p.Thr493Ala) http://identifiers.org/clinvar/297129 ^@ NM_017837.3(PIGV):c.*385A>T http://identifiers.org/clinvar/295390 ^@ NM_014053.3(FLVCR1):c.*2949G>A http://identifiers.org/clinvar/297133 ^@ NM_003680.3(YARS):c.*724T>C http://identifiers.org/clinvar/295391 ^@ NM_014053.3(FLVCR1):c.*2968G>A http://identifiers.org/clinvar/295392 ^@ NM_014053.3(FLVCR1):c.*3127_*3128insGATA http://identifiers.org/clinvar/296787 ^@ NM_001035.2(RYR2):c.*578delT http://identifiers.org/clinvar/297135 ^@ NM_003680.3(YARS):c.*680A>G http://identifiers.org/clinvar/297147 ^@ NM_003680.3(YARS):c.*21C>A http://identifiers.org/clinvar/295394 ^@ NM_014053.3(FLVCR1):c.*3129A>T http://identifiers.org/clinvar/295397 ^@ NM_014053.3(FLVCR1):c.*3241C>T http://identifiers.org/clinvar/295543 ^@ NM_000478.5(ALPL):c.472+12delG http://identifiers.org/clinvar/295412 ^@ NM_007123.5(USH2A):c.*685C>A http://identifiers.org/clinvar/295422 ^@ NM_007123.5(USH2A):c.4445C>T (p.Thr1482Ile) http://identifiers.org/clinvar/296785 ^@ NM_001035.2(RYR2):c.*578dupT http://identifiers.org/clinvar/297163 ^@ NM_003680.3(YARS):c.57+14G>T http://identifiers.org/clinvar/297165 ^@ NM_003680.3(YARS):c.-167T>A http://identifiers.org/clinvar/297166 ^@ NM_003680.3(YARS):c.-269C>T http://identifiers.org/clinvar/295545 ^@ NM_000478.5(ALPL):c.648C>T (p.Asp216=) http://identifiers.org/clinvar/295423 ^@ NM_007123.5(USH2A):c.4412G>C (p.Arg1471Thr) http://identifiers.org/clinvar/296789 ^@ NM_001035.2(RYR2):c.*646dupA http://identifiers.org/clinvar/296791 ^@ NM_001035.2(RYR2):c.*647C>T http://identifiers.org/clinvar/296800 ^@ NM_001035.2(RYR2):c.*717G>C http://identifiers.org/clinvar/295546 ^@ NM_000478.5(ALPL):c.997+11C>T http://identifiers.org/clinvar/295426 ^@ NM_007123.5(USH2A):c.4276G>A (p.Glu1426Lys) http://identifiers.org/clinvar/295427 ^@ NM_007123.5(USH2A):c.4252-16_4252-13dupCTTT http://identifiers.org/clinvar/295547 ^@ NM_000478.5(ALPL):c.1014C>T (p.His338=) http://identifiers.org/clinvar/296795 ^@ NM_001035.2(RYR2):c.*723_*728delGCCCCC http://identifiers.org/clinvar/295556 ^@ NM_000478.5(ALPL):c.*12C>T http://identifiers.org/clinvar/297177 ^@ NM_003680.3(YARS):c.-741C>T http://identifiers.org/clinvar/295404 ^@ NM_007123.5(USH2A):c.*1191_*1194delACTA http://identifiers.org/clinvar/295428 ^@ NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile) http://identifiers.org/clinvar/297181 ^@ NM_024009.2(GJB3):c.-398C>G http://identifiers.org/clinvar/295405 ^@ NM_007123.5(USH2A):c.*1128G>T http://identifiers.org/clinvar/296802 ^@ NM_001035.2(RYR2):c.*869G>A http://identifiers.org/clinvar/296807 ^@ NM_001035.2(RYR2):c.*1070G>T http://identifiers.org/clinvar/296829 ^@ NM_000403.3(GALE):c.873+13_873+14insA http://identifiers.org/clinvar/295406 ^@ NM_007123.5(USH2A):c.*1077T>C http://identifiers.org/clinvar/295413 ^@ NM_007123.5(USH2A):c.*596G>A http://identifiers.org/clinvar/295432 ^@ NM_007123.5(USH2A):c.3342C>T (p.Asp1114=) http://identifiers.org/clinvar/296831 ^@ NM_000403.3(GALE):c.647C>T (p.Ala216Val) http://identifiers.org/clinvar/295443 ^@ NM_007123.5(USH2A):c.1327A>G (p.Asn443Asp) http://identifiers.org/clinvar/296836 ^@ NM_000403.3(GALE):c.369G>A (p.Gly123=) http://identifiers.org/clinvar/296840 ^@ NM_000403.3(GALE):c.-161C>G http://identifiers.org/clinvar/295416 ^@ NM_007123.5(USH2A):c.*547T>C http://identifiers.org/clinvar/295430 ^@ NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu) http://identifiers.org/clinvar/296843 ^@ NM_000191.2(HMGCL):c.*290T>C http://identifiers.org/clinvar/296846 ^@ NM_000191.2(HMGCL):c.*104G>A http://identifiers.org/clinvar/295438 ^@ NM_007123.5(USH2A):c.1903A>G (p.Ile635Val) http://identifiers.org/clinvar/296847 ^@ NM_000191.2(HMGCL):c.828G>A (p.Leu276=) http://identifiers.org/clinvar/295439 ^@ NM_007123.5(USH2A):c.1900G>T (p.Ala634Ser) http://identifiers.org/clinvar/295442 ^@ NM_007123.5(USH2A):c.1363A>G (p.Ser455Gly) http://identifiers.org/clinvar/295444 ^@ NM_007123.5(USH2A):c.950G>A (p.Arg317Gln) http://identifiers.org/clinvar/295445 ^@ NM_007123.5(USH2A):c.849-4A>G http://identifiers.org/clinvar/295450 ^@ NM_007123.5(USH2A):c.-181C>T http://identifiers.org/clinvar/297193 ^@ NM_024009.2(GJB3):c.491G>A (p.Cys164Tyr) http://identifiers.org/clinvar/295448 ^@ NM_007123.5(USH2A):c.126C>T (p.Asn42=) http://identifiers.org/clinvar/295451 ^@ NM_007123.5(USH2A):c.-229C>T http://identifiers.org/clinvar/295454 ^@ NM_007123.5(USH2A):c.-355C>G http://identifiers.org/clinvar/295683 ^@ NM_005529.6(HSPG2):c.*817G>A http://identifiers.org/clinvar/297194 ^@ NM_024009.2(GJB3):c.660G>A (p.Lys220=) http://identifiers.org/clinvar/296852 ^@ NM_000191.2(HMGCL):c.594C>T (p.Tyr198=) http://identifiers.org/clinvar/297212 ^@ NM_000310.3(PPT1):c.*1300dupG http://identifiers.org/clinvar/297214 ^@ NM_000310.3(PPT1):c.*1289_*1291delAAG http://identifiers.org/clinvar/295686 ^@ NM_005529.6(HSPG2):c.*623C>G http://identifiers.org/clinvar/296853 ^@ NM_000191.2(HMGCL):c.497+3G>A http://identifiers.org/clinvar/295685 ^@ NM_005529.6(HSPG2):c.*626C>G http://identifiers.org/clinvar/297227 ^@ NM_000310.3(PPT1):c.*781A>T http://identifiers.org/clinvar/295688 ^@ NM_005529.6(HSPG2):c.*593C>T http://identifiers.org/clinvar/297229 ^@ NM_000310.3(PPT1):c.*679C>A http://identifiers.org/clinvar/295695 ^@ NM_005529.6(HSPG2):c.13050A>G (p.Ser4350=) http://identifiers.org/clinvar/295696 ^@ NM_005529.6(HSPG2):c.13005C>T (p.Gly4335=) http://identifiers.org/clinvar/295697 ^@ NM_005529.6(HSPG2):c.13004-5G>A http://identifiers.org/clinvar/295692 ^@ NM_005529.6(HSPG2):c.13153A>G (p.Asn4385Asp) http://identifiers.org/clinvar/295698 ^@ NM_005529.6(HSPG2):c.13000A>G (p.Ile4334Val) http://identifiers.org/clinvar/295700 ^@ NM_005529.6(HSPG2):c.12992G>A (p.Ser4331Asn) http://identifiers.org/clinvar/295714 ^@ NM_005529.6(HSPG2):c.11671+5G>A http://identifiers.org/clinvar/296886 ^@ NM_000147.4(FUCA1):c.936G>A (p.Leu312=) http://identifiers.org/clinvar/297230 ^@ NM_000310.3(PPT1):c.*657G>A http://identifiers.org/clinvar/296888 ^@ NM_000147.4(FUCA1):c.649G>A (p.Asp217Asn) http://identifiers.org/clinvar/295719 ^@ NM_005529.6(HSPG2):c.11353-13C>T http://identifiers.org/clinvar/296890 ^@ NM_000147.4(FUCA1):c.433T>C (p.Trp145Arg) http://identifiers.org/clinvar/297235 ^@ NM_000310.3(PPT1):c.*484C>T http://identifiers.org/clinvar/296891 ^@ NM_000147.4(FUCA1):c.405G>A (p.Thr135=) http://identifiers.org/clinvar/297237 ^@ NM_000310.3(PPT1):c.*456A>G http://identifiers.org/clinvar/295702 ^@ NM_005529.6(HSPG2):c.12886G>C (p.Val4296Leu) http://identifiers.org/clinvar/295704 ^@ NM_005529.6(HSPG2):c.12786C>T (p.Leu4262=) http://identifiers.org/clinvar/296892 ^@ NM_000147.4(FUCA1):c.327G>A (p.Gln109=) http://identifiers.org/clinvar/297238 ^@ NM_000310.3(PPT1):c.*388G>C http://identifiers.org/clinvar/296894 ^@ NM_000147.4(FUCA1):c.30G>C (p.Pro10=) http://identifiers.org/clinvar/295726 ^@ NM_005529.6(HSPG2):c.10918G>A (p.Val3640Ile) http://identifiers.org/clinvar/297239 ^@ NM_000310.3(PPT1):c.*340T>G http://identifiers.org/clinvar/297242 ^@ NM_000310.3(PPT1):c.*161T>C http://identifiers.org/clinvar/297246 ^@ NM_000310.3(PPT1):c.537-12T>C http://identifiers.org/clinvar/295727 ^@ NM_005529.6(HSPG2):c.10895G>A (p.Arg3632Gln) http://identifiers.org/clinvar/295729 ^@ NM_005529.6(HSPG2):c.10831-4G>A http://identifiers.org/clinvar/296253 ^@ NM_153818.1(PEX10):c.*838C>T http://identifiers.org/clinvar/295710 ^@ NM_005529.6(HSPG2):c.12007C>T (p.Arg4003Trp) http://identifiers.org/clinvar/295713 ^@ NM_005529.6(HSPG2):c.11671+15C>T http://identifiers.org/clinvar/296255 ^@ NM_153818.1(PEX10):c.*798C>T http://identifiers.org/clinvar/296256 ^@ NM_153818.1(PEX10):c.*782C>A http://identifiers.org/clinvar/296257 ^@ NM_153818.1(PEX10):c.*744dupG http://identifiers.org/clinvar/296258 ^@ NM_153818.1(PEX10):c.*732G>A http://identifiers.org/clinvar/295715 ^@ NM_005529.6(HSPG2):c.11648C>G (p.Ser3883Trp) http://identifiers.org/clinvar/296260 ^@ NM_153818.1(PEX10):c.*627C>T http://identifiers.org/clinvar/297247 ^@ NM_000310.3(PPT1):c.234+8G>A http://identifiers.org/clinvar/296265 ^@ NM_153818.1(PEX10):c.*352G>A http://identifiers.org/clinvar/296268 ^@ NM_153818.1(PEX10):c.*173G>A http://identifiers.org/clinvar/297266 ^@ NM_005857.4(ZMPSTE24):c.*59C>A http://identifiers.org/clinvar/295455 ^@ NM_001135599.3(TGFB2):c.-1302A>G http://identifiers.org/clinvar/295460 ^@ NM_001135599.3(TGFB2):c.-794T>C http://identifiers.org/clinvar/295462 ^@ NM_001135599.3(TGFB2):c.-746G>T http://identifiers.org/clinvar/296271 ^@ NM_153818.1(PEX10):c.*10C>T http://identifiers.org/clinvar/295466 ^@ NM_001135599.3(TGFB2):c.-682C>G http://identifiers.org/clinvar/295468 ^@ NM_001135599.3(TGFB2):c.-677T>C http://identifiers.org/clinvar/295470 ^@ NM_001135599.3(TGFB2):c.-646_-641dupGCACAC http://identifiers.org/clinvar/296274 ^@ NM_153818.1(PEX10):c.836+8C>T http://identifiers.org/clinvar/297267 ^@ NM_005857.4(ZMPSTE24):c.*185_*188delGAAT http://identifiers.org/clinvar/296276 ^@ NM_153818.1(PEX10):c.771C>T (p.Tyr257=) http://identifiers.org/clinvar/297274 ^@ NM_005857.4(ZMPSTE24):c.*702C>T http://identifiers.org/clinvar/295471 ^@ NM_001135599.3(TGFB2):c.-645_-644insCCACGC http://identifiers.org/clinvar/295717 ^@ NM_005529.6(HSPG2):c.11568C>T (p.Gly3856=) http://identifiers.org/clinvar/295723 ^@ NM_005529.6(HSPG2):c.11187G>T (p.Val3729=) http://identifiers.org/clinvar/295724 ^@ NM_005529.6(HSPG2):c.11082C>T (p.Pro3694=) http://identifiers.org/clinvar/295481 ^@ NM_001135599.3(TGFB2):c.-338T>A http://identifiers.org/clinvar/295736 ^@ NM_005529.6(HSPG2):c.10365C>T (p.Asn3455=) http://identifiers.org/clinvar/295725 ^@ NM_005529.6(HSPG2):c.11072C>T (p.Thr3691Ile) http://identifiers.org/clinvar/297276 ^@ NM_005857.4(ZMPSTE24):c.*1313T>C http://identifiers.org/clinvar/295456 ^@ NM_001135599.3(TGFB2):c.-1272_-1267dupAAGAGA http://identifiers.org/clinvar/295738 ^@ NM_005529.6(HSPG2):c.10351C>T (p.Leu3451Phe) http://identifiers.org/clinvar/295743 ^@ NM_005529.6(HSPG2):c.10248C>T (p.Ser3416=) http://identifiers.org/clinvar/297283 ^@ NM_001852.3(COL9A2):c.*370G>A http://identifiers.org/clinvar/295748 ^@ NM_005529.6(HSPG2):c.9945G>A (p.Thr3315=) http://identifiers.org/clinvar/295459 ^@ NM_001135599.3(TGFB2):c.-1016C>T http://identifiers.org/clinvar/297284 ^@ NM_001852.3(COL9A2):c.*322G>A http://identifiers.org/clinvar/297288 ^@ NM_001852.3(COL9A2):c.*122T>C http://identifiers.org/clinvar/296281 ^@ NM_153818.1(PEX10):c.316C>T (p.Leu106=) http://identifiers.org/clinvar/296861 ^@ NM_000143.3(FH):c.1443C>G (p.Thr481=) http://identifiers.org/clinvar/297294 ^@ NM_001852.3(COL9A2):c.1609C>T (p.Leu537=) http://identifiers.org/clinvar/297306 ^@ NM_001852.3(COL9A2):c.905C>T (p.Pro302Leu) http://identifiers.org/clinvar/297312 ^@ NM_001852.3(COL9A2):c.230A>C (p.Asp77Ala) http://identifiers.org/clinvar/296863 ^@ NM_000143.3(FH):c.1237-9_1237-8insTCTCTC http://identifiers.org/clinvar/296864 ^@ NM_000143.3(FH):c.1237-12A>T http://identifiers.org/clinvar/295472 ^@ NM_001135599.3(TGFB2):c.-646G>A http://identifiers.org/clinvar/295477 ^@ NM_001135599.3(TGFB2):c.-644A>G http://identifiers.org/clinvar/295749 ^@ NM_005529.6(HSPG2):c.9908C>T (p.Thr3303Met) http://identifiers.org/clinvar/297313 ^@ NM_001852.3(COL9A2):c.-27C>A http://identifiers.org/clinvar/295750 ^@ NM_005529.6(HSPG2):c.9852T>C (p.Ala3284=) http://identifiers.org/clinvar/295752 ^@ NM_005529.6(HSPG2):c.9770G>A (p.Arg3257Gln) http://identifiers.org/clinvar/297314 ^@ NM_001852.3(COL9A2):c.-43G>A http://identifiers.org/clinvar/295754 ^@ NM_005529.6(HSPG2):c.9732C>T (p.His3244=) http://identifiers.org/clinvar/295755 ^@ NM_005529.6(HSPG2):c.9710-10G>A http://identifiers.org/clinvar/295475 ^@ NM_001135599.3(TGFB2):c.-626_-621dupACACAC http://identifiers.org/clinvar/295757 ^@ NM_005529.6(HSPG2):c.9540G>A (p.Ala3180=) http://identifiers.org/clinvar/296871 ^@ NM_000143.3(FH):c.1237-14_1237-13delTC http://identifiers.org/clinvar/296870 ^@ NM_000143.3(FH):c.1237-24_1237-13dupTCTCTCTCTCTC http://identifiers.org/clinvar/296875 ^@ NM_000143.3(FH):c.190A>G (p.Asn64Asp) http://identifiers.org/clinvar/295758 ^@ NM_005529.6(HSPG2):c.9502G>A (p.Ala3168Thr) http://identifiers.org/clinvar/297317 ^@ NM_148960.2(CLDN19):c.*1698A>G http://identifiers.org/clinvar/297319 ^@ NM_148960.2(CLDN19):c.*1621T>C http://identifiers.org/clinvar/295476 ^@ NM_001135599.3(TGFB2):c.-622_-621delAC http://identifiers.org/clinvar/295478 ^@ NM_001135599.3(TGFB2):c.-620G>A http://identifiers.org/clinvar/295485 ^@ NM_001135599.3(TGFB2):c.37C>A (p.His13Asn) http://identifiers.org/clinvar/296899 ^@ NM_006642.3(SDCCAG8):c.-130C>A http://identifiers.org/clinvar/297320 ^@ NM_148960.2(CLDN19):c.*1483G>T http://identifiers.org/clinvar/297323 ^@ NM_148960.2(CLDN19):c.*1312G>A http://identifiers.org/clinvar/295491 ^@ NM_001135599.3(TGFB2):c.754T>G (p.Leu252Val) http://identifiers.org/clinvar/295495 ^@ NM_001135599.3(TGFB2):c.*39G>A http://identifiers.org/clinvar/295497 ^@ NM_001135599.3(TGFB2):c.*135G>A http://identifiers.org/clinvar/295772 ^@ NM_005529.6(HSPG2):c.8576C>T (p.Thr2859Met) http://identifiers.org/clinvar/295501 ^@ NM_001135599.3(TGFB2):c.*720T>C http://identifiers.org/clinvar/296904 ^@ NM_006642.3(SDCCAG8):c.237T>A (p.Asp79Glu) http://identifiers.org/clinvar/297324 ^@ NM_148960.2(CLDN19):c.*1073G>A http://identifiers.org/clinvar/297333 ^@ NM_148960.2(CLDN19):c.*523G>A http://identifiers.org/clinvar/295504 ^@ NM_001135599.3(TGFB2):c.*782delC http://identifiers.org/clinvar/295507 ^@ NM_001135599.3(TGFB2):c.*1128G>A http://identifiers.org/clinvar/296908 ^@ NM_006642.3(SDCCAG8):c.572C>T (p.Thr191Ile) http://identifiers.org/clinvar/297335 ^@ NM_148960.2(CLDN19):c.*231A>G http://identifiers.org/clinvar/297336 ^@ NM_148960.2(CLDN19):c.*158G>A http://identifiers.org/clinvar/297348 ^@ NM_148960.2(CLDN19):c.-145C>T http://identifiers.org/clinvar/295773 ^@ NM_005529.6(HSPG2):c.8514G>A (p.Val2838=) http://identifiers.org/clinvar/295487 ^@ NM_001135599.3(TGFB2):c.54G>T (p.Ala18=) http://identifiers.org/clinvar/295732 ^@ NM_005529.6(HSPG2):c.10618G>A (p.Val3540Ile) http://identifiers.org/clinvar/295734 ^@ NM_005529.6(HSPG2):c.10589G>A (p.Arg3530Gln) http://identifiers.org/clinvar/295739 ^@ NM_005529.6(HSPG2):c.10280G>A (p.Arg3427Gln) http://identifiers.org/clinvar/295511 ^@ NM_001135599.3(TGFB2):c.*1229T>C http://identifiers.org/clinvar/295512 ^@ NM_001135599.3(TGFB2):c.*1233T>A http://identifiers.org/clinvar/295741 ^@ NM_005529.6(HSPG2):c.10260C>T (p.His3420=) http://identifiers.org/clinvar/295742 ^@ NM_005529.6(HSPG2):c.10249G>A (p.Val3417Ile) http://identifiers.org/clinvar/297355 ^@ NM_006516.2(SLC2A1):c.*1337A>C http://identifiers.org/clinvar/295747 ^@ NM_005529.6(HSPG2):c.10061G>A (p.Arg3354His) http://identifiers.org/clinvar/295762 ^@ NM_005529.6(HSPG2):c.9176G>A (p.Arg3059Gln) http://identifiers.org/clinvar/295769 ^@ NM_005529.6(HSPG2):c.8759-13C>T http://identifiers.org/clinvar/296911 ^@ NM_006642.3(SDCCAG8):c.986C>T (p.Thr329Met) http://identifiers.org/clinvar/296915 ^@ NM_006642.3(SDCCAG8):c.1745-7T>A http://identifiers.org/clinvar/296917 ^@ NM_006642.3(SDCCAG8):c.*62_*66dupGACTT http://identifiers.org/clinvar/296918 ^@ NM_006642.3(SDCCAG8):c.*97G>A http://identifiers.org/clinvar/296921 ^@ NM_006642.3(SDCCAG8):c.*287A>G http://identifiers.org/clinvar/296928 ^@ NM_004895.4(NLRP3):c.-527C>G http://identifiers.org/clinvar/296929 ^@ NM_004895.4(NLRP3):c.-527C>T http://identifiers.org/clinvar/295510 ^@ NM_001135599.3(TGFB2):c.*1233delT http://identifiers.org/clinvar/295518 ^@ NM_001135599.3(TGFB2):c.*1502T>C http://identifiers.org/clinvar/297358 ^@ NM_006516.2(SLC2A1):c.*1213G>T http://identifiers.org/clinvar/295519 ^@ NM_001135599.3(TGFB2):c.*1585C>G http://identifiers.org/clinvar/295520 ^@ NM_001135599.3(TGFB2):c.*1615T>C http://identifiers.org/clinvar/295526 ^@ NM_001135599.3(TGFB2):c.*2108G>A http://identifiers.org/clinvar/295534 ^@ NM_001135599.3(TGFB2):c.*2617T>C http://identifiers.org/clinvar/295536 ^@ NM_001135599.3(TGFB2):c.*2950G>A http://identifiers.org/clinvar/295770 ^@ NM_005529.6(HSPG2):c.8711C>T (p.Ala2904Val) http://identifiers.org/clinvar/295492 ^@ NM_001135599.3(TGFB2):c.882T>A (p.Thr294=) http://identifiers.org/clinvar/297359 ^@ NM_006516.2(SLC2A1):c.*1205C>T http://identifiers.org/clinvar/297373 ^@ NM_006516.2(SLC2A1):c.*514G>T http://identifiers.org/clinvar/295494 ^@ NM_001135599.3(TGFB2):c.1265T>C (p.Ile422Thr) http://identifiers.org/clinvar/295496 ^@ NM_001135599.3(TGFB2):c.*45A>G http://identifiers.org/clinvar/295498 ^@ NM_001135599.3(TGFB2):c.*201A>T http://identifiers.org/clinvar/297376 ^@ NM_006516.2(SLC2A1):c.*322T>G http://identifiers.org/clinvar/297378 ^@ NM_006516.2(SLC2A1):c.*22G>A http://identifiers.org/clinvar/295503 ^@ NM_001135599.3(TGFB2):c.*772C>T http://identifiers.org/clinvar/297380 ^@ NM_006516.2(SLC2A1):c.411A>G (p.Thr137=) http://identifiers.org/clinvar/296931 ^@ NM_004895.4(NLRP3):c.-405T>C http://identifiers.org/clinvar/296933 ^@ NM_004895.4(NLRP3):c.-197G>A http://identifiers.org/clinvar/296935 ^@ NM_004895.4(NLRP3):c.-68G>A http://identifiers.org/clinvar/296941 ^@ NM_004895.4(NLRP3):c.283+11G>A http://identifiers.org/clinvar/296954 ^@ NM_004895.4(NLRP3):c.3048T>C (p.Ser1016=) http://identifiers.org/clinvar/296961 ^@ NM_004895.4(NLRP3):c.*489C>T http://identifiers.org/clinvar/296963 ^@ NM_015627.2(LDLRAP1):c.-105G>A http://identifiers.org/clinvar/296966 ^@ NM_015627.2(LDLRAP1):c.-92G>T http://identifiers.org/clinvar/296968 ^@ NM_015627.2(LDLRAP1):c.-68G>A http://identifiers.org/clinvar/295782 ^@ NM_005529.6(HSPG2):c.8026-10G>T http://identifiers.org/clinvar/297381 ^@ NM_006516.2(SLC2A1):c.312C>G (p.Phe104Leu) http://identifiers.org/clinvar/295784 ^@ NM_005529.6(HSPG2):c.7872C>T (p.His2624=) http://identifiers.org/clinvar/296971 ^@ NM_015627.2(LDLRAP1):c.45C>T (p.Pro15=) http://identifiers.org/clinvar/297382 ^@ NM_006516.2(SLC2A1):c.132C>T (p.Tyr44=) http://identifiers.org/clinvar/297383 ^@ NM_006516.2(SLC2A1):c.-190G>C http://identifiers.org/clinvar/297389 ^@ NM_006516.2(SLC2A1):c.-368A>C http://identifiers.org/clinvar/296972 ^@ NM_015627.2(LDLRAP1):c.64T>C (p.Trp22Arg) http://identifiers.org/clinvar/296973 ^@ NM_015627.2(LDLRAP1):c.75T>A (p.Gly25=) http://identifiers.org/clinvar/296984 ^@ NM_015627.2(LDLRAP1):c.654A>G (p.Thr218=) http://identifiers.org/clinvar/295787 ^@ NM_005529.6(HSPG2):c.7738-14T>C http://identifiers.org/clinvar/295789 ^@ NM_005529.6(HSPG2):c.7532C>T (p.Thr2511Ile) http://identifiers.org/clinvar/297390 ^@ NM_006516.2(SLC2A1):c.-384G>A http://identifiers.org/clinvar/297393 ^@ NM_006516.2(SLC2A1):c.-424C>G http://identifiers.org/clinvar/295506 ^@ NM_001135599.3(TGFB2):c.*962A>G http://identifiers.org/clinvar/295508 ^@ NM_001135599.3(TGFB2):c.*1198A>G http://identifiers.org/clinvar/297398 ^@ NM_005373.2(MPL):c.196C>T (p.Leu66=) http://identifiers.org/clinvar/297399 ^@ NM_005373.2(MPL):c.543T>C (p.Gly181=) http://identifiers.org/clinvar/297403 ^@ NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) http://identifiers.org/clinvar/295517 ^@ NM_001135599.3(TGFB2):c.*1443T>A http://identifiers.org/clinvar/296985 ^@ NM_015627.2(LDLRAP1):c.672C>T (p.Ser224=) http://identifiers.org/clinvar/295790 ^@ NM_005529.6(HSPG2):c.7509C>T (p.Cys2503=) http://identifiers.org/clinvar/295793 ^@ NM_005529.6(HSPG2):c.7346C>T (p.Ala2449Val) http://identifiers.org/clinvar/297406 ^@ NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) http://identifiers.org/clinvar/296988 ^@ NM_015627.2(LDLRAP1):c.907G>A (p.Asp303Asn) http://identifiers.org/clinvar/297408 ^@ NM_005373.2(MPL):c.1570C>T (p.Leu524=) http://identifiers.org/clinvar/297416 ^@ NM_005373.2(MPL):c.*573G>A http://identifiers.org/clinvar/296989 ^@ NM_015627.2(LDLRAP1):c.*63G>A http://identifiers.org/clinvar/295794 ^@ NM_005529.6(HSPG2):c.7294+9C>A http://identifiers.org/clinvar/295524 ^@ NM_001135599.3(TGFB2):c.*2053G>A http://identifiers.org/clinvar/295528 ^@ NM_001135599.3(TGFB2):c.*2269T>C http://identifiers.org/clinvar/297425 ^@ NM_005373.2(MPL):c.*924C>G http://identifiers.org/clinvar/295533 ^@ NM_001135599.3(TGFB2):c.*2564A>G http://identifiers.org/clinvar/296994 ^@ NM_015627.2(LDLRAP1):c.*478C>T http://identifiers.org/clinvar/295537 ^@ NM_001135599.3(TGFB2):c.*2980G>C http://identifiers.org/clinvar/296995 ^@ NM_015627.2(LDLRAP1):c.*506C>T http://identifiers.org/clinvar/295806 ^@ NM_005529.6(HSPG2):c.6808G>A (p.Gly2270Arg) http://identifiers.org/clinvar/295774 ^@ NM_005529.6(HSPG2):c.8431G>A (p.Glu2811Lys) http://identifiers.org/clinvar/297437 ^@ NM_005373.2(MPL):c.*1603A>C http://identifiers.org/clinvar/297439 ^@ NM_020365.4(EIF2B3):c.*201C>G http://identifiers.org/clinvar/297441 ^@ NM_020365.4(EIF2B3):c.1287C>T (p.Gly429=) http://identifiers.org/clinvar/296997 ^@ NM_015627.2(LDLRAP1):c.*607G>T http://identifiers.org/clinvar/295776 ^@ NM_005529.6(HSPG2):c.8364G>A (p.Ser2788=) http://identifiers.org/clinvar/295813 ^@ NM_005529.6(HSPG2):c.6307C>A (p.Arg2103=) http://identifiers.org/clinvar/295817 ^@ NM_005529.6(HSPG2):c.6076G>T (p.Val2026Leu) http://identifiers.org/clinvar/295778 ^@ NM_005529.6(HSPG2):c.8224G>A (p.Glu2742Lys) http://identifiers.org/clinvar/297442 ^@ NM_020365.4(EIF2B3):c.1201G>A (p.Gly401Arg) http://identifiers.org/clinvar/295779 ^@ NM_005529.6(HSPG2):c.8212G>A (p.Val2738Met) http://identifiers.org/clinvar/297444 ^@ NM_020365.4(EIF2B3):c.634G>A (p.Val212Met) http://identifiers.org/clinvar/296998 ^@ NM_015627.2(LDLRAP1):c.*766dupT http://identifiers.org/clinvar/295824 ^@ NM_005529.6(HSPG2):c.5848G>A (p.Val1950Met) http://identifiers.org/clinvar/297446 ^@ NM_020365.4(EIF2B3):c.439G>C (p.Gly147Arg) http://identifiers.org/clinvar/295829 ^@ NM_005529.6(HSPG2):c.5657G>A (p.Arg1886His) http://identifiers.org/clinvar/295830 ^@ NM_005529.6(HSPG2):c.5615C>T (p.Pro1872Leu) http://identifiers.org/clinvar/295783 ^@ NM_005529.6(HSPG2):c.8026-10G>A http://identifiers.org/clinvar/297447 ^@ NM_020365.4(EIF2B3):c.388A>G (p.Met130Val) http://identifiers.org/clinvar/297001 ^@ NM_015627.2(LDLRAP1):c.*814G>A http://identifiers.org/clinvar/297448 ^@ NM_020365.4(EIF2B3):c.189A>T (p.Leu63=) http://identifiers.org/clinvar/297002 ^@ NM_015627.2(LDLRAP1):c.*821T>G http://identifiers.org/clinvar/295839 ^@ NM_005529.6(HSPG2):c.4868+10C>G http://identifiers.org/clinvar/297004 ^@ NM_015627.2(LDLRAP1):c.*877C>T http://identifiers.org/clinvar/297449 ^@ NM_020365.4(EIF2B3):c.130G>A (p.Glu44Lys) http://identifiers.org/clinvar/297458 ^@ NM_000374.4(UROD):c.-1C>T http://identifiers.org/clinvar/297008 ^@ NM_015627.2(LDLRAP1):c.*1115C>T http://identifiers.org/clinvar/297010 ^@ NM_015627.2(LDLRAP1):c.*1284C>T http://identifiers.org/clinvar/297014 ^@ NM_015627.2(LDLRAP1):c.*1477T>G http://identifiers.org/clinvar/295840 ^@ NM_005529.6(HSPG2):c.4681G>A (p.Glu1561Lys) http://identifiers.org/clinvar/297017 ^@ NM_015627.2(LDLRAP1):c.*1677G>A http://identifiers.org/clinvar/297030 ^@ NM_020451.2(SELENON):c.1623C>T (p.Asn541=) http://identifiers.org/clinvar/295841 ^@ NM_005529.6(HSPG2):c.4647G>A (p.Thr1549=) http://identifiers.org/clinvar/295842 ^@ NM_005529.6(HSPG2):c.4576G>A (p.Glu1526Lys) http://identifiers.org/clinvar/295843 ^@ NM_005529.6(HSPG2):c.4575C>T (p.Leu1525=) http://identifiers.org/clinvar/295844 ^@ NM_005529.6(HSPG2):c.4489T>A (p.Phe1497Ile) http://identifiers.org/clinvar/297461 ^@ NM_000374.4(UROD):c.693G>A (p.Lys231=) http://identifiers.org/clinvar/297032 ^@ NM_020451.2(SELENON):c.*83G>A http://identifiers.org/clinvar/295845 ^@ NM_005529.6(HSPG2):c.4488G>A (p.Thr1496=) http://identifiers.org/clinvar/295796 ^@ NM_005529.6(HSPG2):c.7165G>A (p.Gly2389Ser) http://identifiers.org/clinvar/295800 ^@ NM_005529.6(HSPG2):c.7036G>A (p.Glu2346Lys) http://identifiers.org/clinvar/295849 ^@ NM_005529.6(HSPG2):c.4132G>A (p.Glu1378Lys) http://identifiers.org/clinvar/295803 ^@ NM_005529.6(HSPG2):c.6952G>A (p.Glu2318Lys) http://identifiers.org/clinvar/295807 ^@ NM_005529.6(HSPG2):c.6673G>A (p.Gly2225Ser) http://identifiers.org/clinvar/297463 ^@ NM_000374.4(UROD):c.758T>A (p.Leu253Gln) http://identifiers.org/clinvar/295808 ^@ NM_005529.6(HSPG2):c.6660G>C (p.Val2220=) http://identifiers.org/clinvar/297040 ^@ NM_020451.2(SELENON):c.*710C>T http://identifiers.org/clinvar/295851 ^@ NM_005529.6(HSPG2):c.3945T>C (p.Ser1315=) http://identifiers.org/clinvar/295812 ^@ NM_005529.6(HSPG2):c.6346G>A (p.Val2116Met) http://identifiers.org/clinvar/295815 ^@ NM_005529.6(HSPG2):c.6114C>G (p.Ile2038Met) http://identifiers.org/clinvar/295818 ^@ NM_005529.6(HSPG2):c.6029T>C (p.Leu2010Pro) http://identifiers.org/clinvar/297052 ^@ NM_020451.2(SELENON):c.*1672T>G http://identifiers.org/clinvar/297466 ^@ NM_001048171.1(MUTYH):c.*37_*39delGTT http://identifiers.org/clinvar/297058 ^@ NM_020451.2(SELENON):c.*2047G>A http://identifiers.org/clinvar/295821 ^@ NM_005529.6(HSPG2):c.5997+5G>C http://identifiers.org/clinvar/295828 ^@ NM_005529.6(HSPG2):c.5702-13G>A http://identifiers.org/clinvar/295834 ^@ NM_005529.6(HSPG2):c.5297C>T (p.Ala1766Val) http://identifiers.org/clinvar/297469 ^@ NM_001048171.1(MUTYH):c.1095G>A (p.Gln365=) http://identifiers.org/clinvar/295835 ^@ NM_005529.6(HSPG2):c.5115C>G (p.Pro1705=) http://identifiers.org/clinvar/297060 ^@ NM_020451.2(SELENON):c.*2228delT http://identifiers.org/clinvar/297062 ^@ NM_020451.2(SELENON):c.*2234_*2236delCCC http://identifiers.org/clinvar/295837 ^@ NM_005529.6(HSPG2):c.4895G>C (p.Gly1632Ala) http://identifiers.org/clinvar/297061 ^@ NM_020451.2(SELENON):c.*2236delC http://identifiers.org/clinvar/297483 ^@ NM_015506.2(MMACHC):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/297065 ^@ NM_020451.2(SELENON):c.*2336A>T http://identifiers.org/clinvar/295848 ^@ NM_005529.6(HSPG2):c.4227G>A (p.Ala1409=) http://identifiers.org/clinvar/295850 ^@ NM_005529.6(HSPG2):c.4078A>G (p.Asn1360Asp) http://identifiers.org/clinvar/295854 ^@ NM_005529.6(HSPG2):c.3732T>C (p.Arg1244=) http://identifiers.org/clinvar/297489 ^@ NM_015506.2(MMACHC):c.799C>T (p.Arg267Trp) http://identifiers.org/clinvar/297490 ^@ NM_015506.2(MMACHC):c.*5C>G http://identifiers.org/clinvar/297071 ^@ NM_024887.3(DHDDS):c.-53T>G http://identifiers.org/clinvar/297077 ^@ NM_024887.3(DHDDS):c.848T>C (p.Leu283Pro) http://identifiers.org/clinvar/297081 ^@ NM_024887.3(DHDDS):c.*128C>G http://identifiers.org/clinvar/295859 ^@ NM_005529.6(HSPG2):c.3570C>T (p.Cys1190=) http://identifiers.org/clinvar/297082 ^@ NM_024887.3(DHDDS):c.*174G>T http://identifiers.org/clinvar/297496 ^@ NM_015506.2(MMACHC):c.*200A>T http://identifiers.org/clinvar/297089 ^@ NM_024887.3(DHDDS):c.*629C>T http://identifiers.org/clinvar/295860 ^@ NM_005529.6(HSPG2):c.3557G>A (p.Arg1186Gln) http://identifiers.org/clinvar/295862 ^@ NM_005529.6(HSPG2):c.3436C>T (p.Arg1146Cys) http://identifiers.org/clinvar/295865 ^@ NM_005529.6(HSPG2):c.3207G>A (p.Gly1069=) http://identifiers.org/clinvar/297090 ^@ NM_024887.3(DHDDS):c.*691_*693delCTC http://identifiers.org/clinvar/297500 ^@ NM_015506.2(MMACHC):c.*261_*262delCA http://identifiers.org/clinvar/297502 ^@ NM_015506.2(MMACHC):c.*279A>G http://identifiers.org/clinvar/297091 ^@ NM_024887.3(DHDDS):c.*737C>A http://identifiers.org/clinvar/297092 ^@ NM_024887.3(DHDDS):c.*769G>T http://identifiers.org/clinvar/297094 ^@ NM_024887.3(DHDDS):c.*986T>A http://identifiers.org/clinvar/295867 ^@ NM_005529.6(HSPG2):c.3183+8A>G http://identifiers.org/clinvar/295855 ^@ NM_005529.6(HSPG2):c.3708G>A (p.Ala1236=) http://identifiers.org/clinvar/297505 ^@ NM_015506.2(MMACHC):c.*413G>A http://identifiers.org/clinvar/297506 ^@ NM_015506.2(MMACHC):c.*450G>C http://identifiers.org/clinvar/295872 ^@ NM_005529.6(HSPG2):c.2951T>A (p.Leu984His) http://identifiers.org/clinvar/295874 ^@ NM_005529.6(HSPG2):c.2792G>A (p.Arg931His) http://identifiers.org/clinvar/295875 ^@ NM_005529.6(HSPG2):c.2685+6C>T http://identifiers.org/clinvar/297103 ^@ NM_024887.3(DHDDS):c.*1826A>T http://identifiers.org/clinvar/297104 ^@ NM_024887.3(DHDDS):c.*1886C>T http://identifiers.org/clinvar/297111 ^@ NM_017837.3(PIGV):c.-333C>T http://identifiers.org/clinvar/297513 ^@ NM_015506.2(MMACHC):c.*860delT http://identifiers.org/clinvar/297514 ^@ NM_015506.2(MMACHC):c.*962C>T http://identifiers.org/clinvar/297121 ^@ NM_017837.3(PIGV):c.1213T>A (p.Phe405Ile) http://identifiers.org/clinvar/297127 ^@ NM_017837.3(PIGV):c.*210A>G http://identifiers.org/clinvar/297130 ^@ NM_017837.3(PIGV):c.*441C>T http://identifiers.org/clinvar/295858 ^@ NM_005529.6(HSPG2):c.3591C>T (p.Asp1197=) http://identifiers.org/clinvar/297518 ^@ NM_015506.2(MMACHC):c.*1144A>T http://identifiers.org/clinvar/297140 ^@ NM_003680.3(YARS):c.*399G>A http://identifiers.org/clinvar/297520 ^@ NM_015506.2(MMACHC):c.*1212G>A http://identifiers.org/clinvar/297143 ^@ NM_003680.3(YARS):c.*307_*308delCA http://identifiers.org/clinvar/297144 ^@ NM_003680.3(YARS):c.*293A>G http://identifiers.org/clinvar/297161 ^@ NM_003680.3(YARS):c.391C>T (p.Leu131=) http://identifiers.org/clinvar/297522 ^@ NM_015506.2(MMACHC):c.*1260G>A http://identifiers.org/clinvar/295878 ^@ NM_005529.6(HSPG2):c.2568C>T (p.Pro856=) http://identifiers.org/clinvar/297529 ^@ NM_015506.2(MMACHC):c.*1700A>G http://identifiers.org/clinvar/297530 ^@ NM_015506.2(MMACHC):c.*1701T>A http://identifiers.org/clinvar/297167 ^@ NM_003680.3(YARS):c.-283G>A http://identifiers.org/clinvar/297533 ^@ NM_017739.3(POMGNT1):c.1540-6C>T http://identifiers.org/clinvar/297539 ^@ NM_017739.3(POMGNT1):c.121A>G (p.Thr41Ala) http://identifiers.org/clinvar/297540 ^@ NM_017739.3(POMGNT1):c.-141A>G http://identifiers.org/clinvar/297168 ^@ NM_003680.3(YARS):c.-333C>T http://identifiers.org/clinvar/297174 ^@ NM_003680.3(YARS):c.-662G>A http://identifiers.org/clinvar/297175 ^@ NM_003680.3(YARS):c.-683C>T http://identifiers.org/clinvar/297182 ^@ NM_024009.2(GJB3):c.-383G>A http://identifiers.org/clinvar/297184 ^@ NM_024009.2(GJB3):c.-231G>A http://identifiers.org/clinvar/297545 ^@ NM_003035.2(STIL):c.*599A>G http://identifiers.org/clinvar/297548 ^@ NM_003035.2(STIL):c.*316T>C http://identifiers.org/clinvar/297551 ^@ NM_003035.2(STIL):c.3512C>T (p.Ser1171Phe) http://identifiers.org/clinvar/297561 ^@ NM_003035.2(STIL):c.1421A>G (p.His474Arg) http://identifiers.org/clinvar/295866 ^@ NM_005529.6(HSPG2):c.3183+10A>T http://identifiers.org/clinvar/295869 ^@ NM_005529.6(HSPG2):c.3131C>T (p.Ala1044Val) http://identifiers.org/clinvar/297185 ^@ NM_024009.2(GJB3):c.-177G>A http://identifiers.org/clinvar/295884 ^@ NM_005529.6(HSPG2):c.2027C>T (p.Pro676Leu) http://identifiers.org/clinvar/297196 ^@ NM_024009.2(GJB3):c.*53G>A http://identifiers.org/clinvar/295889 ^@ NM_005529.6(HSPG2):c.1654+15G>A http://identifiers.org/clinvar/295879 ^@ NM_005529.6(HSPG2):c.2435G>A (p.Arg812Gln) http://identifiers.org/clinvar/295881 ^@ NM_005529.6(HSPG2):c.2294A>G (p.Asn765Ser) http://identifiers.org/clinvar/295882 ^@ NM_005529.6(HSPG2):c.2109C>T (p.Ala703=) http://identifiers.org/clinvar/297562 ^@ NM_003035.2(STIL):c.1140C>T (p.Ser380=) http://identifiers.org/clinvar/297564 ^@ NM_003035.2(STIL):c.957T>C (p.Cys319=) http://identifiers.org/clinvar/297567 ^@ NM_003035.2(STIL):c.111G>C (p.Thr37=) http://identifiers.org/clinvar/295897 ^@ NM_005529.6(HSPG2):c.1136A>G (p.Asn379Ser) http://identifiers.org/clinvar/297570 ^@ NM_003035.2(STIL):c.-65C>G http://identifiers.org/clinvar/295901 ^@ NM_005529.6(HSPG2):c.958+14G>A http://identifiers.org/clinvar/295902 ^@ NM_005529.6(HSPG2):c.958+5G>A http://identifiers.org/clinvar/295904 ^@ NM_005529.6(HSPG2):c.878G>A (p.Arg293His) http://identifiers.org/clinvar/297571 ^@ NM_003035.2(STIL):c.-88C>T http://identifiers.org/clinvar/297207 ^@ NM_024009.2(GJB3):c.*493C>T http://identifiers.org/clinvar/295890 ^@ NM_005529.6(HSPG2):c.1601G>A (p.Arg534His) http://identifiers.org/clinvar/297577 ^@ NM_004153.3(ORC1):c.2404C>T (p.His802Tyr) http://identifiers.org/clinvar/295906 ^@ NM_005529.6(HSPG2):c.825G>A (p.Leu275=) http://identifiers.org/clinvar/295910 ^@ NM_005529.6(HSPG2):c.474G>T (p.Gly158=) http://identifiers.org/clinvar/295912 ^@ NM_005529.6(HSPG2):c.444G>C (p.Leu148=) http://identifiers.org/clinvar/295913 ^@ NM_005529.6(HSPG2):c.324C>T (p.Phe108=) http://identifiers.org/clinvar/295575 ^@ NM_018713.2(SLC30A10):c.*1128delC http://identifiers.org/clinvar/295577 ^@ NM_018713.2(SLC30A10):c.*945C>T http://identifiers.org/clinvar/297582 ^@ NM_004153.3(ORC1):c.1584-4C>G http://identifiers.org/clinvar/297587 ^@ NM_004153.3(ORC1):c.435G>A (p.Pro145=) http://identifiers.org/clinvar/297588 ^@ NM_004153.3(ORC1):c.392G>T (p.Gly131Val) http://identifiers.org/clinvar/295578 ^@ NM_018713.2(SLC30A10):c.*744G>T http://identifiers.org/clinvar/295581 ^@ NM_018713.2(SLC30A10):c.*239A>G http://identifiers.org/clinvar/295584 ^@ NM_018713.2(SLC30A10):c.1249C>G (p.Pro417Ala) http://identifiers.org/clinvar/297592 ^@ NM_000098.2(CPT2):c.-461T>C http://identifiers.org/clinvar/295590 ^@ NM_018713.2(SLC30A10):c.640+10G>A http://identifiers.org/clinvar/297594 ^@ NM_000098.2(CPT2):c.-282C>T http://identifiers.org/clinvar/295596 ^@ NM_018713.2(SLC30A10):c.-20C>A http://identifiers.org/clinvar/295597 ^@ NM_018713.2(SLC30A10):c.-54C>A http://identifiers.org/clinvar/295601 ^@ NM_012414.3(RAB3GAP2):c.*2971_*2974dupAACA http://identifiers.org/clinvar/295892 ^@ NM_005529.6(HSPG2):c.1525C>T (p.His509Tyr) http://identifiers.org/clinvar/295603 ^@ NM_012414.3(RAB3GAP2):c.*2769G>T http://identifiers.org/clinvar/295606 ^@ NM_012414.3(RAB3GAP2):c.*2550G>C http://identifiers.org/clinvar/295608 ^@ NM_012414.3(RAB3GAP2):c.*2512dupA http://identifiers.org/clinvar/297211 ^@ NM_024009.2(GJB3):c.*626C>G http://identifiers.org/clinvar/297217 ^@ NM_000310.3(PPT1):c.*1088G>A http://identifiers.org/clinvar/297595 ^@ NM_000098.2(CPT2):c.-242G>A http://identifiers.org/clinvar/297596 ^@ NM_000098.2(CPT2):c.-242G>C http://identifiers.org/clinvar/295612 ^@ NM_012414.3(RAB3GAP2):c.*2392_*2395dupAACT http://identifiers.org/clinvar/295623 ^@ NM_012414.3(RAB3GAP2):c.*1453T>G http://identifiers.org/clinvar/297601 ^@ NM_000098.2(CPT2):c.152+3G>A http://identifiers.org/clinvar/297602 ^@ NM_000098.2(CPT2):c.388A>C (p.Asn130His) http://identifiers.org/clinvar/297603 ^@ NM_000098.2(CPT2):c.588T>C (p.Pro196=) http://identifiers.org/clinvar/295624 ^@ NM_012414.3(RAB3GAP2):c.*1335C>T http://identifiers.org/clinvar/295630 ^@ NM_012414.3(RAB3GAP2):c.*925C>T http://identifiers.org/clinvar/297219 ^@ NM_000310.3(PPT1):c.*1019C>T http://identifiers.org/clinvar/297220 ^@ NM_000310.3(PPT1):c.*998G>C http://identifiers.org/clinvar/295631 ^@ NM_012414.3(RAB3GAP2):c.*799dupA http://identifiers.org/clinvar/297221 ^@ NM_000310.3(PPT1):c.*969A>G http://identifiers.org/clinvar/297606 ^@ NM_000098.2(CPT2):c.1158A>C (p.Glu386Asp) http://identifiers.org/clinvar/297615 ^@ NM_014762.3(DHCR24):c.*2503C>T http://identifiers.org/clinvar/295893 ^@ NM_005529.6(HSPG2):c.1508-9G>A http://identifiers.org/clinvar/295907 ^@ NM_005529.6(HSPG2):c.770G>C (p.Arg257Pro) http://identifiers.org/clinvar/295914 ^@ NM_005529.6(HSPG2):c.245-11C>T http://identifiers.org/clinvar/295576 ^@ NM_018713.2(SLC30A10):c.*1088G>A http://identifiers.org/clinvar/295579 ^@ NM_018713.2(SLC30A10):c.*397C>T http://identifiers.org/clinvar/295635 ^@ NM_012414.3(RAB3GAP2):c.*404T>C http://identifiers.org/clinvar/295640 ^@ NM_012414.3(RAB3GAP2):c.3867+13C>T http://identifiers.org/clinvar/297619 ^@ NM_014762.3(DHCR24):c.*2119C>T http://identifiers.org/clinvar/295644 ^@ NM_012414.3(RAB3GAP2):c.3112A>G (p.Ile1038Val) http://identifiers.org/clinvar/297233 ^@ NM_000310.3(PPT1):c.*526_*529dupATCA http://identifiers.org/clinvar/297629 ^@ NM_014762.3(DHCR24):c.*1264T>C http://identifiers.org/clinvar/297631 ^@ NM_014762.3(DHCR24):c.*944C>T http://identifiers.org/clinvar/297241 ^@ NM_000310.3(PPT1):c.*252C>T http://identifiers.org/clinvar/295653 ^@ NM_012414.3(RAB3GAP2):c.2027A>G (p.Glu676Gly) http://identifiers.org/clinvar/295582 ^@ NM_018713.2(SLC30A10):c.1449G>A (p.Thr483=) http://identifiers.org/clinvar/295583 ^@ NM_018713.2(SLC30A10):c.1272C>T (p.His424=) http://identifiers.org/clinvar/295585 ^@ NM_018713.2(SLC30A10):c.1118C>A (p.Ala373Glu) http://identifiers.org/clinvar/295586 ^@ NM_018713.2(SLC30A10):c.1068C>T (p.Asp356=) http://identifiers.org/clinvar/295655 ^@ NM_012414.3(RAB3GAP2):c.1960T>C (p.Ser654Pro) http://identifiers.org/clinvar/297632 ^@ NM_014762.3(DHCR24):c.*914G>A http://identifiers.org/clinvar/295656 ^@ NM_012414.3(RAB3GAP2):c.1891G>A (p.Gly631Arg) http://identifiers.org/clinvar/295588 ^@ NM_018713.2(SLC30A10):c.719-6T>C http://identifiers.org/clinvar/295659 ^@ NM_012414.3(RAB3GAP2):c.1419A>G (p.Gly473=) http://identifiers.org/clinvar/297635 ^@ NM_014762.3(DHCR24):c.*731T>C http://identifiers.org/clinvar/295591 ^@ NM_018713.2(SLC30A10):c.516C>G (p.Gly172=) http://identifiers.org/clinvar/297636 ^@ NM_014762.3(DHCR24):c.*718G>A http://identifiers.org/clinvar/295598 ^@ NM_018713.2(SLC30A10):c.-68C>T http://identifiers.org/clinvar/297243 ^@ NM_000310.3(PPT1):c.*90C>G http://identifiers.org/clinvar/295665 ^@ NM_012414.3(RAB3GAP2):c.812-6delT http://identifiers.org/clinvar/295670 ^@ NM_012414.3(RAB3GAP2):c.383A>C (p.Glu128Ala) http://identifiers.org/clinvar/295610 ^@ NM_012414.3(RAB3GAP2):c.*2464T>C http://identifiers.org/clinvar/297639 ^@ NM_014762.3(DHCR24):c.*508T>C http://identifiers.org/clinvar/297640 ^@ NM_014762.3(DHCR24):c.*480C>T http://identifiers.org/clinvar/295671 ^@ NM_012414.3(RAB3GAP2):c.304+12A>G http://identifiers.org/clinvar/295677 ^@ NM_012414.3(RAB3GAP2):c.-87A>G http://identifiers.org/clinvar/295917 ^@ NM_002296.3(LBR):c.*1532G>A http://identifiers.org/clinvar/295921 ^@ NM_002296.3(LBR):c.*1128G>A http://identifiers.org/clinvar/297643 ^@ NM_014762.3(DHCR24):c.*393G>A http://identifiers.org/clinvar/295615 ^@ NM_012414.3(RAB3GAP2):c.*2327A>G http://identifiers.org/clinvar/295922 ^@ NM_002296.3(LBR):c.*1049C>G http://identifiers.org/clinvar/297249 ^@ NM_000310.3(PPT1):c.-73G>C http://identifiers.org/clinvar/297250 ^@ NM_000310.3(PPT1):c.-83A>G http://identifiers.org/clinvar/295933 ^@ NM_002296.3(LBR):c.1328C>T (p.Thr443Met) http://identifiers.org/clinvar/295620 ^@ NM_012414.3(RAB3GAP2):c.*1694_*1695insACA http://identifiers.org/clinvar/295941 ^@ NM_002296.3(LBR):c.838-9dupT http://identifiers.org/clinvar/295942 ^@ NM_002296.3(LBR):c.790C>T (p.Leu264=) http://identifiers.org/clinvar/295621 ^@ NM_012414.3(RAB3GAP2):c.*1504G>T http://identifiers.org/clinvar/295943 ^@ NM_002296.3(LBR):c.746C>A (p.Ala249Asp) http://identifiers.org/clinvar/295951 ^@ NM_002296.3(LBR):c.-33C>A http://identifiers.org/clinvar/297644 ^@ NM_014762.3(DHCR24):c.*392C>T http://identifiers.org/clinvar/295956 ^@ NM_002296.3(LBR):c.-126C>T http://identifiers.org/clinvar/295960 ^@ NM_003240.4(LEFTY2):c.*730T>C http://identifiers.org/clinvar/297646 ^@ NM_014762.3(DHCR24):c.*316T>G http://identifiers.org/clinvar/297658 ^@ NM_014762.3(DHCR24):c.726C>A (p.Phe242Leu) http://identifiers.org/clinvar/297660 ^@ NM_014762.3(DHCR24):c.639C>T (p.Ala213=) http://identifiers.org/clinvar/295625 ^@ NM_012414.3(RAB3GAP2):c.*1271C>T http://identifiers.org/clinvar/295626 ^@ NM_012414.3(RAB3GAP2):c.*1145delG http://identifiers.org/clinvar/295627 ^@ NM_012414.3(RAB3GAP2):c.*1144delA http://identifiers.org/clinvar/295636 ^@ NM_012414.3(RAB3GAP2):c.*374T>G http://identifiers.org/clinvar/295637 ^@ NM_012414.3(RAB3GAP2):c.*108T>A http://identifiers.org/clinvar/295639 ^@ NM_012414.3(RAB3GAP2):c.3868-8A>G http://identifiers.org/clinvar/295641 ^@ NM_012414.3(RAB3GAP2):c.3829G>C (p.Glu1277Gln) http://identifiers.org/clinvar/297670 ^@ NM_057176.2(BSND):c.-241G>A http://identifiers.org/clinvar/297673 ^@ NM_057176.2(BSND):c.-117T>C http://identifiers.org/clinvar/297254 ^@ NM_005857.4(ZMPSTE24):c.-181A>G http://identifiers.org/clinvar/297255 ^@ NM_005857.4(ZMPSTE24):c.-172A>C http://identifiers.org/clinvar/297676 ^@ NM_057176.2(BSND):c.-25C>T http://identifiers.org/clinvar/297679 ^@ NM_057176.2(BSND):c.696G>A (p.Arg232=) http://identifiers.org/clinvar/295961 ^@ NM_003240.4(LEFTY2):c.*571C>G http://identifiers.org/clinvar/297259 ^@ NM_005857.4(ZMPSTE24):c.30G>T (p.Leu10Phe) http://identifiers.org/clinvar/295642 ^@ NM_012414.3(RAB3GAP2):c.3390G>A (p.Ala1130=) http://identifiers.org/clinvar/297682 ^@ NM_057176.2(BSND):c.*94A>G http://identifiers.org/clinvar/295965 ^@ NM_003240.4(LEFTY2):c.*260C>T http://identifiers.org/clinvar/297684 ^@ NM_174936.3(PCSK9):c.-346G>C http://identifiers.org/clinvar/297685 ^@ NM_174936.3(PCSK9):c.-245G>C http://identifiers.org/clinvar/297261 ^@ NM_005857.4(ZMPSTE24):c.555A>G (p.Leu185=) http://identifiers.org/clinvar/295973 ^@ NM_003240.4(LEFTY2):c.371C>G (p.Pro124Arg) http://identifiers.org/clinvar/295976 ^@ NM_003240.4(LEFTY2):c.-62C>T http://identifiers.org/clinvar/297691 ^@ NM_174936.3(PCSK9):c.-26G>A http://identifiers.org/clinvar/295977 ^@ NM_003240.4(LEFTY2):c.-222C>A http://identifiers.org/clinvar/295645 ^@ NM_012414.3(RAB3GAP2):c.2807-15G>A http://identifiers.org/clinvar/297262 ^@ NM_005857.4(ZMPSTE24):c.770-14T>C http://identifiers.org/clinvar/297269 ^@ NM_005857.4(ZMPSTE24):c.*296T>C http://identifiers.org/clinvar/297270 ^@ NM_005857.4(ZMPSTE24):c.*521A>G http://identifiers.org/clinvar/295980 ^@ NM_000447.2(PSEN2):c.-356A>G http://identifiers.org/clinvar/297694 ^@ NM_174936.3(PCSK9):c.399+4A>G http://identifiers.org/clinvar/295981 ^@ NM_000447.2(PSEN2):c.-338A>G http://identifiers.org/clinvar/297271 ^@ NM_005857.4(ZMPSTE24):c.*536C>T http://identifiers.org/clinvar/297272 ^@ NM_005857.4(ZMPSTE24):c.*678G>C http://identifiers.org/clinvar/295983 ^@ NM_000447.2(PSEN2):c.-275C>T http://identifiers.org/clinvar/297700 ^@ NM_174936.3(PCSK9):c.1303_1304delGTinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) http://identifiers.org/clinvar/297708 ^@ NM_174936.3(PCSK9):c.2005G>A (p.Glu669Lys) http://identifiers.org/clinvar/295646 ^@ NM_012414.3(RAB3GAP2):c.2771G>A (p.Arg924Lys) http://identifiers.org/clinvar/297273 ^@ NM_005857.4(ZMPSTE24):c.*696A>G http://identifiers.org/clinvar/297710 ^@ NM_174936.3(PCSK9):c.*28G>A http://identifiers.org/clinvar/297712 ^@ NM_174936.3(PCSK9):c.*78C>T http://identifiers.org/clinvar/295647 ^@ NM_012414.3(RAB3GAP2):c.2538T>G (p.Ser846=) http://identifiers.org/clinvar/295992 ^@ NM_000447.2(PSEN2):c.861C>T (p.Pro287=) http://identifiers.org/clinvar/295997 ^@ NM_000447.2(PSEN2):c.*72T>C http://identifiers.org/clinvar/296005 ^@ NM_000447.2(PSEN2):c.*487G>C http://identifiers.org/clinvar/297279 ^@ NM_001852.3(COL9A2):c.*578C>T http://identifiers.org/clinvar/296007 ^@ NM_020247.4(COQ8A):c.-113A>G http://identifiers.org/clinvar/296008 ^@ NM_020247.4(COQ8A):c.-75C>T http://identifiers.org/clinvar/296014 ^@ NM_020247.4(COQ8A):c.798G>A (p.Thr266=) http://identifiers.org/clinvar/297715 ^@ NM_174936.3(PCSK9):c.*152G>T http://identifiers.org/clinvar/297723 ^@ NM_174936.3(PCSK9):c.*404G>C http://identifiers.org/clinvar/295650 ^@ NM_012414.3(RAB3GAP2):c.2416+8_2416+9delAA http://identifiers.org/clinvar/295658 ^@ NM_012414.3(RAB3GAP2):c.1600A>G (p.Thr534Ala) http://identifiers.org/clinvar/297727 ^@ NM_174936.3(PCSK9):c.*444G>C http://identifiers.org/clinvar/296018 ^@ NM_020247.4(COQ8A):c.1188C>T (p.Asp396=) http://identifiers.org/clinvar/297728 ^@ NM_174936.3(PCSK9):c.*464C>A http://identifiers.org/clinvar/297731 ^@ NM_174936.3(PCSK9):c.*509C>A http://identifiers.org/clinvar/297734 ^@ NM_174936.3(PCSK9):c.*571C>T http://identifiers.org/clinvar/296021 ^@ NM_020247.4(COQ8A):c.1398+12C>A http://identifiers.org/clinvar/296022 ^@ NM_020247.4(COQ8A):c.1399-13G>A http://identifiers.org/clinvar/296028 ^@ NM_020247.4(COQ8A):c.1800C>T (p.Val600=) http://identifiers.org/clinvar/296030 ^@ NM_020247.4(COQ8A):c.*22C>T http://identifiers.org/clinvar/296038 ^@ NM_020247.4(COQ8A):c.*389dupT http://identifiers.org/clinvar/296042 ^@ NM_020247.4(COQ8A):c.*612C>T http://identifiers.org/clinvar/297280 ^@ NM_001852.3(COL9A2):c.*543G>A http://identifiers.org/clinvar/297736 ^@ NM_174936.3(PCSK9):c.*759G>A http://identifiers.org/clinvar/297286 ^@ NM_001852.3(COL9A2):c.*236G>A http://identifiers.org/clinvar/295660 ^@ NM_012414.3(RAB3GAP2):c.1277G>A (p.Arg426His) http://identifiers.org/clinvar/295662 ^@ NM_012414.3(RAB3GAP2):c.1159G>A (p.Gly387Ser) http://identifiers.org/clinvar/297738 ^@ NM_174936.3(PCSK9):c.*803G>A http://identifiers.org/clinvar/297298 ^@ NM_001852.3(COL9A2):c.1323+14C>A http://identifiers.org/clinvar/297739 ^@ NM_174936.3(PCSK9):c.*846G>T http://identifiers.org/clinvar/297299 ^@ NM_001852.3(COL9A2):c.1162-3C>T http://identifiers.org/clinvar/297303 ^@ NM_001852.3(COL9A2):c.1054-15A>G http://identifiers.org/clinvar/297740 ^@ NM_174936.3(PCSK9):c.*849T>C http://identifiers.org/clinvar/297741 ^@ NM_174936.3(PCSK9):c.*950C>T http://identifiers.org/clinvar/297307 ^@ NM_001852.3(COL9A2):c.741C>A (p.Gly247=) http://identifiers.org/clinvar/296043 ^@ NM_020247.4(COQ8A):c.*613G>A http://identifiers.org/clinvar/296044 ^@ NM_020247.4(COQ8A):c.*631C>G http://identifiers.org/clinvar/297742 ^@ NM_174936.3(PCSK9):c.*1052C>T http://identifiers.org/clinvar/296047 ^@ NM_020247.4(COQ8A):c.*727C>T http://identifiers.org/clinvar/297749 ^@ NM_002353.2(TACSTD2):c.*751C>A http://identifiers.org/clinvar/297757 ^@ NM_002353.2(TACSTD2):c.*226C>A http://identifiers.org/clinvar/297759 ^@ NM_002353.2(TACSTD2):c.*166C>T http://identifiers.org/clinvar/295663 ^@ NM_012414.3(RAB3GAP2):c.1131-4T>C http://identifiers.org/clinvar/295666 ^@ NM_012414.3(RAB3GAP2):c.713-12T>C http://identifiers.org/clinvar/295675 ^@ NM_012414.3(RAB3GAP2):c.-78C>T http://identifiers.org/clinvar/295928 ^@ NM_002296.3(LBR):c.*255C>G http://identifiers.org/clinvar/295935 ^@ NM_002296.3(LBR):c.1188+4T>C http://identifiers.org/clinvar/297308 ^@ NM_001852.3(COL9A2):c.407G>A (p.Arg136Gln) http://identifiers.org/clinvar/297321 ^@ NM_148960.2(CLDN19):c.*1428A>G http://identifiers.org/clinvar/296053 ^@ NM_001100.3(ACTA1):c.809-13_809-12dupCC http://identifiers.org/clinvar/296057 ^@ NM_001100.3(ACTA1):c.454+3G>T http://identifiers.org/clinvar/296061 ^@ NM_001100.3(ACTA1):c.-66_-65delCTinsTC http://identifiers.org/clinvar/296069 ^@ NM_000029.3(AGT):c.*287G>A http://identifiers.org/clinvar/297769 ^@ NM_002353.2(TACSTD2):c.518A>C (p.Asp173Ala) http://identifiers.org/clinvar/296070 ^@ NM_000029.3(AGT):c.*167T>C http://identifiers.org/clinvar/297777 ^@ NM_002353.2(TACSTD2):c.-104C>G http://identifiers.org/clinvar/296072 ^@ NM_000029.3(AGT):c.1345C>G (p.Pro449Ala) http://identifiers.org/clinvar/296081 ^@ NM_000029.3(AGT):c.843C>T (p.Tyr281=) http://identifiers.org/clinvar/297783 ^@ NM_015102.4(NPHP4):c.*26C>T http://identifiers.org/clinvar/297786 ^@ NM_015102.4(NPHP4):c.3864C>T (p.Asp1288=) http://identifiers.org/clinvar/296082 ^@ NM_000029.3(AGT):c.674A>C (p.Gln225Pro) http://identifiers.org/clinvar/296083 ^@ NM_000029.3(AGT):c.620C>T (p.Thr207Met) http://identifiers.org/clinvar/297799 ^@ NM_015102.4(NPHP4):c.3045-4C>A http://identifiers.org/clinvar/297800 ^@ NM_015102.4(NPHP4):c.3027C>T (p.Ile1009=) http://identifiers.org/clinvar/297810 ^@ NM_015102.4(NPHP4):c.2230G>A (p.Val744Met) http://identifiers.org/clinvar/297825 ^@ NM_015102.4(NPHP4):c.1120-13G>T http://identifiers.org/clinvar/296084 ^@ NM_000029.3(AGT):c.412G>T (p.Ala138Ser) http://identifiers.org/clinvar/296087 ^@ NM_000029.3(AGT):c.263T>C (p.Leu88Pro) http://identifiers.org/clinvar/296088 ^@ NM_000029.3(AGT):c.151T>C (p.Cys51Arg) http://identifiers.org/clinvar/297322 ^@ NM_148960.2(CLDN19):c.*1353G>A http://identifiers.org/clinvar/297826 ^@ NM_015102.4(NPHP4):c.1065G>A (p.Ala355=) http://identifiers.org/clinvar/297830 ^@ NM_015102.4(NPHP4):c.257C>T (p.Pro86Leu) http://identifiers.org/clinvar/296092 ^@ NM_000029.3(AGT):c.-58A>C http://identifiers.org/clinvar/297325 ^@ NM_148960.2(CLDN19):c.*1018G>T http://identifiers.org/clinvar/297836 ^@ NM_015102.4(NPHP4):c.-206C>A http://identifiers.org/clinvar/296099 ^@ NM_000029.3(AGT):c.-320C>T http://identifiers.org/clinvar/296100 ^@ NM_000029.3(AGT):c.-400T>C http://identifiers.org/clinvar/297845 ^@ NM_013339.3(ALG6):c.156G>A (p.Pro52=) http://identifiers.org/clinvar/297847 ^@ NM_013339.3(ALG6):c.328C>G (p.Leu110Val) http://identifiers.org/clinvar/297855 ^@ NM_013339.3(ALG6):c.*436T>C http://identifiers.org/clinvar/295936 ^@ NM_002296.3(LBR):c.1071G>A (p.Ser357=) http://identifiers.org/clinvar/295939 ^@ NM_002296.3(LBR):c.899A>G (p.Tyr300Cys) http://identifiers.org/clinvar/295940 ^@ NM_002296.3(LBR):c.843A>G (p.Val281=) http://identifiers.org/clinvar/297856 ^@ NM_013339.3(ALG6):c.*670G>A http://identifiers.org/clinvar/297858 ^@ NM_013339.3(ALG6):c.*761T>C http://identifiers.org/clinvar/296101 ^@ NM_000029.3(AGT):c.-423G>A http://identifiers.org/clinvar/296102 ^@ NM_014236.3(GNPAT):c.-147G>C http://identifiers.org/clinvar/297329 ^@ NM_148960.2(CLDN19):c.*639C>T http://identifiers.org/clinvar/297861 ^@ NM_013339.3(ALG6):c.*844T>C http://identifiers.org/clinvar/295954 ^@ NM_002296.3(LBR):c.-66T>C http://identifiers.org/clinvar/297331 ^@ NM_148960.2(CLDN19):c.*536G>A http://identifiers.org/clinvar/297334 ^@ NM_148960.2(CLDN19):c.*257C>T http://identifiers.org/clinvar/297342 ^@ NM_148960.2(CLDN19):c.337A>G (p.Ile113Val) http://identifiers.org/clinvar/295955 ^@ NM_002296.3(LBR):c.-71G>C http://identifiers.org/clinvar/295963 ^@ NM_003240.4(LEFTY2):c.*317C>G http://identifiers.org/clinvar/295968 ^@ NM_003240.4(LEFTY2):c.1035C>T (p.Asn345=) http://identifiers.org/clinvar/297343 ^@ NM_148960.2(CLDN19):c.335C>T (p.Pro112Leu) http://identifiers.org/clinvar/297344 ^@ NM_148960.2(CLDN19):c.168C>G (p.Ser56=) http://identifiers.org/clinvar/296105 ^@ NM_014236.3(GNPAT):c.-84C>T http://identifiers.org/clinvar/296107 ^@ NM_014236.3(GNPAT):c.-47C>A http://identifiers.org/clinvar/297864 ^@ NM_013339.3(ALG6):c.*1136C>T http://identifiers.org/clinvar/297345 ^@ NM_148960.2(CLDN19):c.71G>C (p.Ser24Thr) http://identifiers.org/clinvar/297866 ^@ NM_013339.3(ALG6):c.*1156dupT http://identifiers.org/clinvar/297872 ^@ NM_002633.2(PGM1):c.399T>C (p.Ile133=) http://identifiers.org/clinvar/297879 ^@ NM_002633.2(PGM1):c.985C>T (p.Arg329Cys) http://identifiers.org/clinvar/297350 ^@ NM_006516.2(SLC2A1):c.*1611T>C http://identifiers.org/clinvar/297351 ^@ NM_006516.2(SLC2A1):c.*1588G>A http://identifiers.org/clinvar/297352 ^@ NM_006516.2(SLC2A1):c.*1587A>G http://identifiers.org/clinvar/295970 ^@ NM_003240.4(LEFTY2):c.727A>G (p.Arg243Gly) http://identifiers.org/clinvar/295971 ^@ NM_003240.4(LEFTY2):c.425A>G (p.Gln142Arg) http://identifiers.org/clinvar/296113 ^@ NM_014236.3(GNPAT):c.476T>C (p.Leu159Pro) http://identifiers.org/clinvar/296117 ^@ NM_014236.3(GNPAT):c.1007C>A (p.Ser336Tyr) http://identifiers.org/clinvar/296122 ^@ NM_014236.3(GNPAT):c.1072C>A (p.Gln358Lys) http://identifiers.org/clinvar/297882 ^@ NM_002633.2(PGM1):c.1144+10A>G http://identifiers.org/clinvar/297884 ^@ NM_002633.2(PGM1):c.1195C>G (p.Leu399Val) http://identifiers.org/clinvar/295974 ^@ NM_003240.4(LEFTY2):c.275C>T (p.Ser92Leu) http://identifiers.org/clinvar/297889 ^@ NM_002633.2(PGM1):c.1411G>A (p.Ala471Thr) http://identifiers.org/clinvar/295978 ^@ NM_003240.4(LEFTY2):c.-225C>T http://identifiers.org/clinvar/297895 ^@ NM_002633.2(PGM1):c.*37G>A http://identifiers.org/clinvar/296129 ^@ NM_014236.3(GNPAT):c.1483G>A (p.Val495Ile) http://identifiers.org/clinvar/296132 ^@ NM_014236.3(GNPAT):c.1648C>G (p.Gln550Glu) http://identifiers.org/clinvar/296133 ^@ NM_014236.3(GNPAT):c.1680G>A (p.Glu560=) http://identifiers.org/clinvar/297354 ^@ NM_006516.2(SLC2A1):c.*1337A>G http://identifiers.org/clinvar/297361 ^@ NM_006516.2(SLC2A1):c.*1147G>C http://identifiers.org/clinvar/297899 ^@ NM_002633.2(PGM1):c.*198C>T http://identifiers.org/clinvar/297901 ^@ NM_002633.2(PGM1):c.*236T>C http://identifiers.org/clinvar/297364 ^@ NM_006516.2(SLC2A1):c.*971G>A http://identifiers.org/clinvar/297368 ^@ NM_006516.2(SLC2A1):c.*626G>A http://identifiers.org/clinvar/297903 ^@ NM_002633.2(PGM1):c.*357A>G http://identifiers.org/clinvar/297904 ^@ NM_020631.4(PLEKHG5):c.*1440C>T http://identifiers.org/clinvar/297917 ^@ NM_020631.4(PLEKHG5):c.*981dupC http://identifiers.org/clinvar/295979 ^@ NM_000447.2(PSEN2):c.-400C>T http://identifiers.org/clinvar/295982 ^@ NM_000447.2(PSEN2):c.-278C>T http://identifiers.org/clinvar/295985 ^@ NM_000447.2(PSEN2):c.-82T>C http://identifiers.org/clinvar/297920 ^@ NM_020631.4(PLEKHG5):c.*801G>A http://identifiers.org/clinvar/297930 ^@ NM_020631.4(PLEKHG5):c.*108G>A http://identifiers.org/clinvar/297370 ^@ NM_006516.2(SLC2A1):c.*587A>T http://identifiers.org/clinvar/297371 ^@ NM_006516.2(SLC2A1):c.*571C>T http://identifiers.org/clinvar/297377 ^@ NM_006516.2(SLC2A1):c.*60C>T http://identifiers.org/clinvar/295989 ^@ NM_000447.2(PSEN2):c.336C>T (p.Tyr112=) http://identifiers.org/clinvar/297932 ^@ NM_020631.4(PLEKHG5):c.*27T>C http://identifiers.org/clinvar/297945 ^@ NM_020631.4(PLEKHG5):c.2410C>T (p.Pro804Ser) http://identifiers.org/clinvar/295990 ^@ NM_000447.2(PSEN2):c.410A>G (p.Asn137Ser) http://identifiers.org/clinvar/295996 ^@ NM_000447.2(PSEN2):c.*20G>A http://identifiers.org/clinvar/296001 ^@ NM_000447.2(PSEN2):c.*270C>T http://identifiers.org/clinvar/296134 ^@ NM_014236.3(GNPAT):c.1744-13C>T http://identifiers.org/clinvar/297946 ^@ NM_020631.4(PLEKHG5):c.2331C>T (p.Ser777=) http://identifiers.org/clinvar/296003 ^@ NM_000447.2(PSEN2):c.*377C>T http://identifiers.org/clinvar/297948 ^@ NM_020631.4(PLEKHG5):c.2201C>T (p.Ser734Phe) http://identifiers.org/clinvar/297379 ^@ NM_006516.2(SLC2A1):c.1278+9C>G http://identifiers.org/clinvar/296017 ^@ NM_020247.4(COQ8A):c.1163-10C>T http://identifiers.org/clinvar/297384 ^@ NM_006516.2(SLC2A1):c.-192G>C http://identifiers.org/clinvar/296135 ^@ NM_014236.3(GNPAT):c.1890C>T (p.Asn630=) http://identifiers.org/clinvar/296019 ^@ NM_020247.4(COQ8A):c.1256+11C>G http://identifiers.org/clinvar/297951 ^@ NM_020631.4(PLEKHG5):c.2164G>A (p.Glu722Lys) http://identifiers.org/clinvar/297958 ^@ NM_020631.4(PLEKHG5):c.1318A>G (p.Met440Val) http://identifiers.org/clinvar/297385 ^@ NM_006516.2(SLC2A1):c.-197A>C http://identifiers.org/clinvar/297388 ^@ NM_006516.2(SLC2A1):c.-272G>A http://identifiers.org/clinvar/297397 ^@ NM_005373.2(MPL):c.95C>T (p.Ala32Val) http://identifiers.org/clinvar/296149 ^@ NM_022051.2(EGLN1):c.*2043C>T http://identifiers.org/clinvar/296023 ^@ NM_020247.4(COQ8A):c.1644C>T (p.Thr548=) http://identifiers.org/clinvar/296025 ^@ NM_020247.4(COQ8A):c.1679T>C (p.Leu560Ser) http://identifiers.org/clinvar/296026 ^@ NM_020247.4(COQ8A):c.1711G>A (p.Ala571Thr) http://identifiers.org/clinvar/297959 ^@ NM_020631.4(PLEKHG5):c.1240G>A (p.Ala414Thr) http://identifiers.org/clinvar/296156 ^@ NM_022051.2(EGLN1):c.*1731C>T http://identifiers.org/clinvar/297962 ^@ NM_020631.4(PLEKHG5):c.918C>T (p.Asp306=) http://identifiers.org/clinvar/296159 ^@ NM_022051.2(EGLN1):c.*1428_*1429delGG http://identifiers.org/clinvar/296161 ^@ NM_022051.2(EGLN1):c.*1288C>T http://identifiers.org/clinvar/296163 ^@ NM_022051.2(EGLN1):c.*1199A>G http://identifiers.org/clinvar/297964 ^@ NM_020631.4(PLEKHG5):c.865C>T (p.Pro289Ser) http://identifiers.org/clinvar/296167 ^@ NM_022051.2(EGLN1):c.*965A>G http://identifiers.org/clinvar/297401 ^@ NM_005373.2(MPL):c.854-3T>C http://identifiers.org/clinvar/297970 ^@ NM_020631.4(PLEKHG5):c.547G>A (p.Glu183Lys) http://identifiers.org/clinvar/296029 ^@ NM_020247.4(COQ8A):c.1809C>T (p.Pro603=) http://identifiers.org/clinvar/296032 ^@ NM_020247.4(COQ8A):c.*150C>T http://identifiers.org/clinvar/296034 ^@ NM_020247.4(COQ8A):c.*230G>A http://identifiers.org/clinvar/296168 ^@ NM_022051.2(EGLN1):c.*944C>T http://identifiers.org/clinvar/297973 ^@ NM_020631.4(PLEKHG5):c.439+12C>G http://identifiers.org/clinvar/296035 ^@ NM_020247.4(COQ8A):c.*252A>C http://identifiers.org/clinvar/297975 ^@ NM_020631.4(PLEKHG5):c.260T>C (p.Ile87Thr) http://identifiers.org/clinvar/296037 ^@ NM_020247.4(COQ8A):c.*349G>A http://identifiers.org/clinvar/296040 ^@ NM_020247.4(COQ8A):c.*464G>A http://identifiers.org/clinvar/296045 ^@ NM_020247.4(COQ8A):c.*681G>A http://identifiers.org/clinvar/297976 ^@ NM_020631.4(PLEKHG5):c.43+14_43+20delGGAGCCG http://identifiers.org/clinvar/297402 ^@ NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) http://identifiers.org/clinvar/296177 ^@ NM_022051.2(EGLN1):c.*535T>G http://identifiers.org/clinvar/297977 ^@ NM_020631.4(PLEKHG5):c.43+13G>A http://identifiers.org/clinvar/297979 ^@ NM_020631.4(PLEKHG5):c.30C>T (p.Asp10=) http://identifiers.org/clinvar/296180 ^@ NM_022051.2(EGLN1):c.*421A>G http://identifiers.org/clinvar/296181 ^@ NM_022051.2(EGLN1):c.*261_*263delAAA http://identifiers.org/clinvar/296184 ^@ NM_022051.2(EGLN1):c.1217-10dupT http://identifiers.org/clinvar/296050 ^@ NM_020247.4(COQ8A):c.*808dupT http://identifiers.org/clinvar/296052 ^@ NM_001100.3(ACTA1):c.966G>A (p.Leu322=) http://identifiers.org/clinvar/296054 ^@ NM_001100.3(ACTA1):c.809-14_809-13insA http://identifiers.org/clinvar/296058 ^@ NM_001100.3(ACTA1):c.129+14T>C http://identifiers.org/clinvar/296060 ^@ NM_001100.3(ACTA1):c.-65T>C http://identifiers.org/clinvar/296065 ^@ NM_000029.3(AGT):c.*513C>A http://identifiers.org/clinvar/297410 ^@ NM_005373.2(MPL):c.1654-10T>A http://identifiers.org/clinvar/296068 ^@ NM_000029.3(AGT):c.*384A>C http://identifiers.org/clinvar/297981 ^@ NM_002303.5(LEPR):c.-161C>T http://identifiers.org/clinvar/297983 ^@ NM_002303.5(LEPR):c.-120C>T http://identifiers.org/clinvar/296074 ^@ NM_000029.3(AGT):c.1222G>A (p.Glu408Lys) http://identifiers.org/clinvar/296076 ^@ NM_000029.3(AGT):c.1125-13A>G http://identifiers.org/clinvar/296077 ^@ NM_000029.3(AGT):c.951C>T (p.Gly317=) http://identifiers.org/clinvar/296186 ^@ NM_022051.2(EGLN1):c.1113C>T (p.Arg371=) http://identifiers.org/clinvar/296079 ^@ NM_000029.3(AGT):c.886G>A (p.Glu296Lys) http://identifiers.org/clinvar/297985 ^@ NM_002303.5(LEPR):c.-20-15A>T http://identifiers.org/clinvar/297990 ^@ NM_002303.5(LEPR):c.921G>C (p.Gln307His) http://identifiers.org/clinvar/296187 ^@ NM_022051.2(EGLN1):c.975A>T (p.Thr325=) http://identifiers.org/clinvar/296198 ^@ NM_022051.2(EGLN1):c.-111G>A http://identifiers.org/clinvar/297993 ^@ NM_002303.5(LEPR):c.1246C>T (p.His416Tyr) http://identifiers.org/clinvar/296199 ^@ NM_022051.2(EGLN1):c.-140C>T http://identifiers.org/clinvar/296080 ^@ NM_000029.3(AGT):c.883G>T (p.Ala295Ser) http://identifiers.org/clinvar/296200 ^@ NM_022051.2(EGLN1):c.-374C>T http://identifiers.org/clinvar/296086 ^@ NM_000029.3(AGT):c.274G>A (p.Ala92Thr) http://identifiers.org/clinvar/297413 ^@ NM_005373.2(MPL):c.*94C>A http://identifiers.org/clinvar/297414 ^@ NM_005373.2(MPL):c.*364C>T http://identifiers.org/clinvar/297420 ^@ NM_005373.2(MPL):c.*705delT http://identifiers.org/clinvar/297426 ^@ NM_005373.2(MPL):c.*971G>A http://identifiers.org/clinvar/297995 ^@ NM_002303.5(LEPR):c.2103C>T (p.Phe701=) http://identifiers.org/clinvar/297428 ^@ NM_005373.2(MPL):c.*1112G>A http://identifiers.org/clinvar/297431 ^@ NM_005373.2(MPL):c.*1180G>A http://identifiers.org/clinvar/297434 ^@ NM_005373.2(MPL):c.*1486T>C http://identifiers.org/clinvar/297436 ^@ NM_005373.2(MPL):c.*1506G>C http://identifiers.org/clinvar/297438 ^@ NM_005373.2(MPL):c.*1674A>T http://identifiers.org/clinvar/298001 ^@ NM_002303.5(LEPR):c.3078T>C (p.Asn1026=) http://identifiers.org/clinvar/298003 ^@ NM_002303.5(LEPR):c.3479T>C (p.Met1160Thr) http://identifiers.org/clinvar/296203 ^@ NM_022051.2(EGLN1):c.-420C>G http://identifiers.org/clinvar/296204 ^@ NM_022051.2(EGLN1):c.-437C>T http://identifiers.org/clinvar/297440 ^@ NM_020365.4(EIF2B3):c.1319A>G (p.Asn440Ser) http://identifiers.org/clinvar/298005 ^@ NM_002303.5(LEPR):c.*112T>C http://identifiers.org/clinvar/298010 ^@ NM_000329.2(RPE65):c.*915C>G http://identifiers.org/clinvar/298017 ^@ NM_000329.2(RPE65):c.*511G>A http://identifiers.org/clinvar/297445 ^@ NM_020365.4(EIF2B3):c.591G>A (p.Thr197=) http://identifiers.org/clinvar/297451 ^@ NM_020365.4(EIF2B3):c.-26C>G http://identifiers.org/clinvar/297453 ^@ NM_020365.4(EIF2B3):c.-72C>G http://identifiers.org/clinvar/296089 ^@ NM_000029.3(AGT):c.-29C>T http://identifiers.org/clinvar/298018 ^@ NM_000329.2(RPE65):c.1386G>A (p.Glu462=) http://identifiers.org/clinvar/297454 ^@ NM_000374.4(UROD):c.-67G>A http://identifiers.org/clinvar/298019 ^@ NM_000329.2(RPE65):c.1243+10T>C http://identifiers.org/clinvar/297455 ^@ NM_000374.4(UROD):c.-57dupG http://identifiers.org/clinvar/297464 ^@ NM_000374.4(UROD):c.*45C>T http://identifiers.org/clinvar/298025 ^@ NM_000329.2(RPE65):c.224G>A (p.Gly75Glu) http://identifiers.org/clinvar/296090 ^@ NM_000029.3(AGT):c.-44G>A http://identifiers.org/clinvar/296091 ^@ NM_000029.3(AGT):c.-48G>A http://identifiers.org/clinvar/296094 ^@ NM_000029.3(AGT):c.-190G>A http://identifiers.org/clinvar/296098 ^@ NM_000029.3(AGT):c.-298G>A http://identifiers.org/clinvar/296103 ^@ NM_014236.3(GNPAT):c.-145G>A http://identifiers.org/clinvar/296112 ^@ NM_014236.3(GNPAT):c.286G>T (p.Val96Leu) http://identifiers.org/clinvar/296121 ^@ NM_014236.3(GNPAT):c.1044C>T (p.Asn348=) http://identifiers.org/clinvar/298031 ^@ NM_001902.5(CTH):c.430G>C (p.Glu144Gln) http://identifiers.org/clinvar/297476 ^@ NM_015506.2(MMACHC):c.-123A>T http://identifiers.org/clinvar/297485 ^@ NM_015506.2(MMACHC):c.403G>T (p.Val135Leu) http://identifiers.org/clinvar/297492 ^@ NM_015506.2(MMACHC):c.*82A>G http://identifiers.org/clinvar/298034 ^@ NM_001902.5(CTH):c.589-3C>T http://identifiers.org/clinvar/296131 ^@ NM_014236.3(GNPAT):c.1522+15T>C http://identifiers.org/clinvar/296136 ^@ NM_014236.3(GNPAT):c.1892C>T (p.Ala631Val) http://identifiers.org/clinvar/296139 ^@ NM_014236.3(GNPAT):c.*123A>G http://identifiers.org/clinvar/297499 ^@ NM_015506.2(MMACHC):c.*217_*218insTTTTA http://identifiers.org/clinvar/296141 ^@ NM_014236.3(GNPAT):c.*389G>A http://identifiers.org/clinvar/298042 ^@ NM_001902.5(CTH):c.*260T>C http://identifiers.org/clinvar/296208 ^@ NM_022051.2(EGLN1):c.-531A>G http://identifiers.org/clinvar/298044 ^@ NM_001902.5(CTH):c.*370C>T http://identifiers.org/clinvar/296211 ^@ NM_022051.2(EGLN1):c.-619C>G http://identifiers.org/clinvar/296214 ^@ NM_022051.2(EGLN1):c.-698G>A http://identifiers.org/clinvar/297501 ^@ NM_015506.2(MMACHC):c.*269A>G http://identifiers.org/clinvar/297507 ^@ NM_015506.2(MMACHC):c.*541_*543delGTT http://identifiers.org/clinvar/296217 ^@ NM_022051.2(EGLN1):c.-797C>G http://identifiers.org/clinvar/296223 ^@ NM_022051.2(EGLN1):c.-1592T>C http://identifiers.org/clinvar/297508 ^@ NM_015506.2(MMACHC):c.*677A>G http://identifiers.org/clinvar/297512 ^@ NM_015506.2(MMACHC):c.*855_*856delCT http://identifiers.org/clinvar/297519 ^@ NM_015506.2(MMACHC):c.*1156_*1159delCTCT http://identifiers.org/clinvar/298048 ^@ NM_001902.5(CTH):c.*523A>T http://identifiers.org/clinvar/296151 ^@ NM_022051.2(EGLN1):c.*1919T>C http://identifiers.org/clinvar/298049 ^@ NM_001902.5(CTH):c.*527A>T http://identifiers.org/clinvar/296155 ^@ NM_022051.2(EGLN1):c.*1787T>G http://identifiers.org/clinvar/296164 ^@ NM_022051.2(EGLN1):c.*1185T>C http://identifiers.org/clinvar/296166 ^@ NM_022051.2(EGLN1):c.*989T>C http://identifiers.org/clinvar/298056 ^@ NM_001902.5(CTH):c.*632G>A http://identifiers.org/clinvar/296230 ^@ NM_022051.2(EGLN1):c.-1959G>A http://identifiers.org/clinvar/296169 ^@ NM_022051.2(EGLN1):c.*798C>T http://identifiers.org/clinvar/296233 ^@ NM_022051.2(EGLN1):c.-2340A>G http://identifiers.org/clinvar/296237 ^@ NM_022051.2(EGLN1):c.-2456A>G http://identifiers.org/clinvar/296239 ^@ NM_022051.2(EGLN1):c.-2568G>T http://identifiers.org/clinvar/296244 ^@ NM_022051.2(EGLN1):c.-2689_-2686delCACT http://identifiers.org/clinvar/297524 ^@ NM_015506.2(MMACHC):c.*1362G>A http://identifiers.org/clinvar/297525 ^@ NM_015506.2(MMACHC):c.*1376_*1377insT http://identifiers.org/clinvar/296170 ^@ NM_022051.2(EGLN1):c.*796C>A http://identifiers.org/clinvar/297528 ^@ NM_015506.2(MMACHC):c.*1646_*1647delAT http://identifiers.org/clinvar/298059 ^@ NM_000016.5(ACADM):c.-375C>T http://identifiers.org/clinvar/297531 ^@ NM_015506.2(MMACHC):c.*1714A>G http://identifiers.org/clinvar/296245 ^@ NM_022051.2(EGLN1):c.-2695A>G http://identifiers.org/clinvar/298061 ^@ NM_000016.5(ACADM):c.-342G>T http://identifiers.org/clinvar/296249 ^@ NM_022051.2(EGLN1):c.-2767G>A http://identifiers.org/clinvar/296251 ^@ NM_022051.2(EGLN1):c.-3142dupA http://identifiers.org/clinvar/296292 ^@ NM_003193.4(TBCE):c.100+13T>G http://identifiers.org/clinvar/298065 ^@ NM_000016.5(ACADM):c.-142C>G http://identifiers.org/clinvar/296173 ^@ NM_022051.2(EGLN1):c.*648delT http://identifiers.org/clinvar/297535 ^@ NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) http://identifiers.org/clinvar/296178 ^@ NM_022051.2(EGLN1):c.*494G>A http://identifiers.org/clinvar/298068 ^@ NM_000016.5(ACADM):c.-29T>C http://identifiers.org/clinvar/298073 ^@ NM_000016.5(ACADM):c.*44T>C http://identifiers.org/clinvar/296188 ^@ NM_022051.2(EGLN1):c.924G>A (p.Thr308=) http://identifiers.org/clinvar/296191 ^@ NM_022051.2(EGLN1):c.522C>T (p.Ser174=) http://identifiers.org/clinvar/298081 ^@ NM_000016.5(ACADM):c.*878T>C http://identifiers.org/clinvar/298082 ^@ NM_144573.3(NEXN):c.-233T>C http://identifiers.org/clinvar/298085 ^@ NM_144573.3(NEXN):c.-194A>G http://identifiers.org/clinvar/296197 ^@ NM_022051.2(EGLN1):c.-20T>C http://identifiers.org/clinvar/296202 ^@ NM_022051.2(EGLN1):c.-386C>A http://identifiers.org/clinvar/296210 ^@ NM_022051.2(EGLN1):c.-565C>A http://identifiers.org/clinvar/296215 ^@ NM_022051.2(EGLN1):c.-720C>T http://identifiers.org/clinvar/298087 ^@ NM_144573.3(NEXN):c.593A>T (p.Glu198Val) http://identifiers.org/clinvar/296229 ^@ NM_022051.2(EGLN1):c.-1832G>A http://identifiers.org/clinvar/297536 ^@ NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) http://identifiers.org/clinvar/298089 ^@ NM_144573.3(NEXN):c.1189C>T (p.Arg397Trp) http://identifiers.org/clinvar/297544 ^@ NM_003035.2(STIL):c.*766_*767delTT http://identifiers.org/clinvar/298090 ^@ NM_144573.3(NEXN):c.1892T>C (p.Ile631Thr) http://identifiers.org/clinvar/298095 ^@ NM_144573.3(NEXN):c.*279G>A http://identifiers.org/clinvar/298096 ^@ NM_144573.3(NEXN):c.*314A>C http://identifiers.org/clinvar/296235 ^@ NM_022051.2(EGLN1):c.-2419G>C http://identifiers.org/clinvar/296238 ^@ NM_022051.2(EGLN1):c.-2567C>T http://identifiers.org/clinvar/297547 ^@ NM_003035.2(STIL):c.*545C>T http://identifiers.org/clinvar/298101 ^@ NM_144573.3(NEXN):c.*414A>C http://identifiers.org/clinvar/296240 ^@ NM_022051.2(EGLN1):c.-2586T>C http://identifiers.org/clinvar/296294 ^@ NM_003193.4(TBCE):c.422G>A (p.Cys141Tyr) http://identifiers.org/clinvar/296305 ^@ NM_003193.4(TBCE):c.1068A>G (p.Leu356=) http://identifiers.org/clinvar/296309 ^@ NM_003193.4(TBCE):c.1263C>G (p.Leu421=) http://identifiers.org/clinvar/296241 ^@ NM_022051.2(EGLN1):c.-2592T>G http://identifiers.org/clinvar/298104 ^@ NM_144573.3(NEXN):c.*511dupA http://identifiers.org/clinvar/298110 ^@ NM_144573.3(NEXN):c.*1020T>A http://identifiers.org/clinvar/296315 ^@ NM_003193.4(TBCE):c.*108A>G http://identifiers.org/clinvar/296316 ^@ NM_003193.4(TBCE):c.*142T>A http://identifiers.org/clinvar/296318 ^@ NM_000081.3(LYST):c.*1861C>A http://identifiers.org/clinvar/296321 ^@ NM_000081.3(LYST):c.*1438C>T http://identifiers.org/clinvar/296325 ^@ NM_000081.3(LYST):c.*1295T>C http://identifiers.org/clinvar/296246 ^@ NM_022051.2(EGLN1):c.-2735G>A http://identifiers.org/clinvar/297552 ^@ NM_003035.2(STIL):c.3204T>C (p.Ala1068=) http://identifiers.org/clinvar/298116 ^@ NM_007262.4(PARK7):c.-30G>C http://identifiers.org/clinvar/296328 ^@ NM_000081.3(LYST):c.*907G>A http://identifiers.org/clinvar/298118 ^@ NM_007262.4(PARK7):c.59T>C (p.Val20Ala) http://identifiers.org/clinvar/296331 ^@ NM_000081.3(LYST):c.*831A>G http://identifiers.org/clinvar/298126 ^@ NM_053274.2(GLMN):c.*92T>G http://identifiers.org/clinvar/298129 ^@ NM_053274.2(GLMN):c.1410-15_1410-14delAT http://identifiers.org/clinvar/296285 ^@ NM_003193.4(TBCE):c.-93T>A http://identifiers.org/clinvar/298130 ^@ NM_053274.2(GLMN):c.1215-9G>T http://identifiers.org/clinvar/298135 ^@ NM_053274.2(GLMN):c.978-4T>C http://identifiers.org/clinvar/297554 ^@ NM_003035.2(STIL):c.2684G>T (p.Ser895Ile) http://identifiers.org/clinvar/297558 ^@ NM_003035.2(STIL):c.2064G>A (p.Pro688=) http://identifiers.org/clinvar/297559 ^@ NM_003035.2(STIL):c.1699C>T (p.Pro567Ser) http://identifiers.org/clinvar/297565 ^@ NM_003035.2(STIL):c.708T>C (p.Leu236=) http://identifiers.org/clinvar/297566 ^@ NM_003035.2(STIL):c.196T>C (p.Tyr66His) http://identifiers.org/clinvar/296333 ^@ NM_000081.3(LYST):c.*725G>A http://identifiers.org/clinvar/298138 ^@ NM_053274.2(GLMN):c.899T>C (p.Ile300Thr) http://identifiers.org/clinvar/298144 ^@ NM_053274.2(GLMN):c.519T>C (p.Leu173=) http://identifiers.org/clinvar/298151 ^@ NM_053274.2(GLMN):c.-34G>A http://identifiers.org/clinvar/297569 ^@ NM_003035.2(STIL):c.-44+15G>A http://identifiers.org/clinvar/296356 ^@ NM_000081.3(LYST):c.10414T>C (p.Tyr3472His) http://identifiers.org/clinvar/296290 ^@ NM_003193.4(TBCE):c.100+62_100+65dupGTGT http://identifiers.org/clinvar/296358 ^@ NM_000081.3(LYST):c.10091A>G (p.Tyr3364Cys) http://identifiers.org/clinvar/296371 ^@ NM_000081.3(LYST):c.8535+7C>T http://identifiers.org/clinvar/296291 ^@ NM_003193.4(TBCE):c.100+64_100+65delGT http://identifiers.org/clinvar/296296 ^@ NM_003193.4(TBCE):c.560+5G>A http://identifiers.org/clinvar/296372 ^@ NM_000081.3(LYST):c.8395A>G (p.Ile2799Val) http://identifiers.org/clinvar/298157 ^@ NM_005263.3(GFI1):c.*1200A>C http://identifiers.org/clinvar/296299 ^@ NM_003193.4(TBCE):c.737+15C>T http://identifiers.org/clinvar/298160 ^@ NM_005263.3(GFI1):c.*1045T>C http://identifiers.org/clinvar/298162 ^@ NM_005263.3(GFI1):c.*912T>C http://identifiers.org/clinvar/296373 ^@ NM_000081.3(LYST):c.8368A>C (p.Lys2790Gln) http://identifiers.org/clinvar/296374 ^@ NM_000081.3(LYST):c.8258C>T (p.Ser2753Leu) http://identifiers.org/clinvar/296384 ^@ NM_000081.3(LYST):c.6744A>G (p.Leu2248=) http://identifiers.org/clinvar/297576 ^@ NM_004153.3(ORC1):c.*94C>T http://identifiers.org/clinvar/298167 ^@ NM_005263.3(GFI1):c.*736C>A http://identifiers.org/clinvar/298169 ^@ NM_005263.3(GFI1):c.*597G>A http://identifiers.org/clinvar/298174 ^@ NM_005263.3(GFI1):c.*255C>T http://identifiers.org/clinvar/297578 ^@ NM_004153.3(ORC1):c.2382G>A (p.Thr794=) http://identifiers.org/clinvar/296300 ^@ NM_003193.4(TBCE):c.738-12T>A http://identifiers.org/clinvar/296385 ^@ NM_000081.3(LYST):c.6673C>T (p.Arg2225Cys) http://identifiers.org/clinvar/296398 ^@ NM_000081.3(LYST):c.3931A>G (p.Met1311Val) http://identifiers.org/clinvar/298177 ^@ NM_005263.3(GFI1):c.1188C>T (p.Phe396=) http://identifiers.org/clinvar/296403 ^@ NM_000081.3(LYST):c.3697G>A (p.Glu1233Lys) http://identifiers.org/clinvar/296302 ^@ NM_003193.4(TBCE):c.909G>A (p.Thr303=) http://identifiers.org/clinvar/298182 ^@ NM_005263.3(GFI1):c.925-6_925-5delCT http://identifiers.org/clinvar/296303 ^@ NM_003193.4(TBCE):c.981G>A (p.Glu327=) http://identifiers.org/clinvar/296304 ^@ NM_003193.4(TBCE):c.1050A>G (p.Glu350=) http://identifiers.org/clinvar/296310 ^@ NM_003193.4(TBCE):c.1270+4delC http://identifiers.org/clinvar/298179 ^@ NM_005263.3(GFI1):c.925-8_925-5dupCTCT http://identifiers.org/clinvar/298183 ^@ NM_005263.3(GFI1):c.925-14_925-5dupCTCTCTCTCT http://identifiers.org/clinvar/296327 ^@ NM_000081.3(LYST):c.*1211G>A http://identifiers.org/clinvar/297583 ^@ NM_004153.3(ORC1):c.1430G>A (p.Arg477Gln) http://identifiers.org/clinvar/296405 ^@ NM_000081.3(LYST):c.3278G>A (p.Ser1093Asn) http://identifiers.org/clinvar/296415 ^@ NM_000081.3(LYST):c.2769A>C (p.Ser923=) http://identifiers.org/clinvar/297584 ^@ NM_004153.3(ORC1):c.1284A>C (p.Thr428=) http://identifiers.org/clinvar/298199 ^@ NM_000969.3(RPL5):c.-55C>G http://identifiers.org/clinvar/298203 ^@ NM_000969.3(RPL5):c.-42A>C http://identifiers.org/clinvar/296417 ^@ NM_000081.3(LYST):c.2724C>T (p.Cys908=) http://identifiers.org/clinvar/296425 ^@ NM_000081.3(LYST):c.2012_2014delCTT (p.Ser671del) http://identifiers.org/clinvar/296329 ^@ NM_000081.3(LYST):c.*891G>C http://identifiers.org/clinvar/297589 ^@ NM_004153.3(ORC1):c.387C>T (p.Ile129=) http://identifiers.org/clinvar/297593 ^@ NM_000098.2(CPT2):c.-285C>A http://identifiers.org/clinvar/296435 ^@ NM_000081.3(LYST):c.280A>G (p.Thr94Ala) http://identifiers.org/clinvar/296332 ^@ NM_000081.3(LYST):c.*824A>G http://identifiers.org/clinvar/296335 ^@ NM_000081.3(LYST):c.*685G>T http://identifiers.org/clinvar/296445 ^@ NM_000081.3(LYST):c.-139G>A http://identifiers.org/clinvar/297599 ^@ NM_000098.2(CPT2):c.-117G>T http://identifiers.org/clinvar/296336 ^@ NM_000081.3(LYST):c.*519C>T http://identifiers.org/clinvar/297610 ^@ NM_000098.2(CPT2):c.*439T>C http://identifiers.org/clinvar/298207 ^@ NM_000969.3(RPL5):c.-2G>A http://identifiers.org/clinvar/296450 ^@ NM_145861.2(EDARADD):c.302C>T (p.Thr101Ile) http://identifiers.org/clinvar/297612 ^@ NM_014762.3(DHCR24):c.*2555A>G http://identifiers.org/clinvar/296453 ^@ NM_145861.2(EDARADD):c.*100C>T http://identifiers.org/clinvar/298208 ^@ NM_000969.3(RPL5):c.3+13C>T http://identifiers.org/clinvar/298212 ^@ NM_000969.3(RPL5):c.781G>C (p.Val261Leu) http://identifiers.org/clinvar/298218 ^@ NM_000350.2(ABCA4):c.*136G>A http://identifiers.org/clinvar/296454 ^@ NM_145861.2(EDARADD):c.*115A>G http://identifiers.org/clinvar/298221 ^@ NM_000350.2(ABCA4):c.*26C>A http://identifiers.org/clinvar/298223 ^@ NM_000350.2(ABCA4):c.6340G>A (p.Val2114Met) http://identifiers.org/clinvar/296455 ^@ NM_145861.2(EDARADD):c.*195G>T http://identifiers.org/clinvar/296465 ^@ NM_145861.2(EDARADD):c.*719C>T http://identifiers.org/clinvar/298230 ^@ NM_000350.2(ABCA4):c.5121C>A (p.Asn1707Lys) http://identifiers.org/clinvar/296469 ^@ NM_145861.2(EDARADD):c.*967A>G http://identifiers.org/clinvar/297614 ^@ NM_014762.3(DHCR24):c.*2514A>G http://identifiers.org/clinvar/297616 ^@ NM_014762.3(DHCR24):c.*2442G>T http://identifiers.org/clinvar/297622 ^@ NM_014762.3(DHCR24):c.*1881G>A http://identifiers.org/clinvar/297626 ^@ NM_014762.3(DHCR24):c.*1489G>A http://identifiers.org/clinvar/297628 ^@ NM_014762.3(DHCR24):c.*1424C>T http://identifiers.org/clinvar/296470 ^@ NM_145861.2(EDARADD):c.*971C>T http://identifiers.org/clinvar/298232 ^@ NM_000350.2(ABCA4):c.4925G>T (p.Ser1642Ile) http://identifiers.org/clinvar/298234 ^@ NM_000350.2(ABCA4):c.4749T>A (p.Leu1583=) http://identifiers.org/clinvar/298235 ^@ NM_000350.2(ABCA4):c.4578G>A (p.Thr1526=) http://identifiers.org/clinvar/296340 ^@ NM_000081.3(LYST):c.*191T>C http://identifiers.org/clinvar/296341 ^@ NM_000081.3(LYST):c.*94A>G http://identifiers.org/clinvar/296472 ^@ NM_145861.2(EDARADD):c.*1438C>T http://identifiers.org/clinvar/298238 ^@ NM_000350.2(ABCA4):c.4510G>A (p.Glu1504Lys) http://identifiers.org/clinvar/297630 ^@ NM_014762.3(DHCR24):c.*1121A>G http://identifiers.org/clinvar/296474 ^@ NM_145861.2(EDARADD):c.*1508C>T http://identifiers.org/clinvar/297638 ^@ NM_014762.3(DHCR24):c.*577C>T http://identifiers.org/clinvar/297642 ^@ NM_014762.3(DHCR24):c.*434A>T http://identifiers.org/clinvar/298240 ^@ NM_000350.2(ABCA4):c.4253+13G>A http://identifiers.org/clinvar/297648 ^@ NM_014762.3(DHCR24):c.*221C>T http://identifiers.org/clinvar/297649 ^@ NM_014762.3(DHCR24):c.*180_*181delAA http://identifiers.org/clinvar/297650 ^@ NM_014762.3(DHCR24):c.*172A>G http://identifiers.org/clinvar/296486 ^@ NM_145861.2(EDARADD):c.*2018C>G http://identifiers.org/clinvar/296498 ^@ NM_001103.3(ACTN2):c.166G>A (p.Gly56Ser) http://identifiers.org/clinvar/296343 ^@ NM_000081.3(LYST):c.11268-5dupT http://identifiers.org/clinvar/296502 ^@ NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) http://identifiers.org/clinvar/298245 ^@ NM_000350.2(ABCA4):c.3840_3845delTGATTC (p.Asp1281_Ser1282del) http://identifiers.org/clinvar/296505 ^@ NM_001103.3(ACTN2):c.1106C>T (p.Ser369Leu) http://identifiers.org/clinvar/298248 ^@ NM_000350.2(ABCA4):c.3607+13C>T http://identifiers.org/clinvar/297651 ^@ NM_014762.3(DHCR24):c.*102C>T http://identifiers.org/clinvar/296346 ^@ NM_000081.3(LYST):c.11167G>A (p.Ala3723Thr) http://identifiers.org/clinvar/296509 ^@ NM_001103.3(ACTN2):c.2241G>A (p.Ala747=) http://identifiers.org/clinvar/298251 ^@ NM_000350.2(ABCA4):c.3385C>T (p.Arg1129Cys) http://identifiers.org/clinvar/296512 ^@ NM_001103.3(ACTN2):c.*111A>G http://identifiers.org/clinvar/298252 ^@ NM_000350.2(ABCA4):c.3206A>G (p.Lys1069Arg) http://identifiers.org/clinvar/298256 ^@ NM_000350.2(ABCA4):c.2517C>T (p.Ser839=) http://identifiers.org/clinvar/296352 ^@ NM_000081.3(LYST):c.10707T>C (p.Thr3569=) http://identifiers.org/clinvar/296513 ^@ NM_001103.3(ACTN2):c.*157C>T http://identifiers.org/clinvar/296515 ^@ NM_001103.3(ACTN2):c.*396G>A http://identifiers.org/clinvar/296522 ^@ NM_001103.3(ACTN2):c.*886T>G http://identifiers.org/clinvar/298257 ^@ NM_000350.2(ABCA4):c.2278C>G (p.Leu760Val) http://identifiers.org/clinvar/296363 ^@ NM_000081.3(LYST):c.9332A>G (p.Tyr3111Cys) http://identifiers.org/clinvar/298260 ^@ NM_000350.2(ABCA4):c.1356+14dupG http://identifiers.org/clinvar/296364 ^@ NM_000081.3(LYST):c.9162+11G>A http://identifiers.org/clinvar/297652 ^@ NM_014762.3(DHCR24):c.*42G>A http://identifiers.org/clinvar/298261 ^@ NM_000350.2(ABCA4):c.1356+6_1356+7insC http://identifiers.org/clinvar/296526 ^@ NM_001103.3(ACTN2):c.*1097G>A http://identifiers.org/clinvar/296529 ^@ NM_001103.3(ACTN2):c.*1273C>T http://identifiers.org/clinvar/298265 ^@ NM_000350.2(ABCA4):c.791G>A (p.Arg264His) http://identifiers.org/clinvar/296530 ^@ NM_001103.3(ACTN2):c.*1274_*1275delCT http://identifiers.org/clinvar/296532 ^@ NM_001103.3(ACTN2):c.*1301T>C http://identifiers.org/clinvar/298285 ^@ NM_000110.3(DPYD):c.2180-11G>A http://identifiers.org/clinvar/296533 ^@ NM_001103.3(ACTN2):c.*1651G>T http://identifiers.org/clinvar/296534 ^@ NM_000254.2(MTR):c.-413C>A http://identifiers.org/clinvar/296535 ^@ NM_000254.2(MTR):c.-379C>T http://identifiers.org/clinvar/297654 ^@ NM_014762.3(DHCR24):c.1026T>C (p.Ile342=) http://identifiers.org/clinvar/297655 ^@ NM_014762.3(DHCR24):c.1020+11G>A http://identifiers.org/clinvar/298290 ^@ NM_000110.3(DPYD):c.1538C>G (p.Ala513Gly) http://identifiers.org/clinvar/297659 ^@ NM_014762.3(DHCR24):c.712G>A (p.Val238Ile) http://identifiers.org/clinvar/296366 ^@ NM_000081.3(LYST):c.8960C>G (p.Pro2987Arg) http://identifiers.org/clinvar/298292 ^@ NM_000110.3(DPYD):c.1525-11G>A http://identifiers.org/clinvar/296367 ^@ NM_000081.3(LYST):c.8818C>A (p.Pro2940Thr) http://identifiers.org/clinvar/296368 ^@ NM_000081.3(LYST):c.8801+15G>C http://identifiers.org/clinvar/298294 ^@ NM_000110.3(DPYD):c.1349C>G (p.Ala450Gly) http://identifiers.org/clinvar/298298 ^@ NM_000110.3(DPYD):c.1027A>T (p.Thr343Ser) http://identifiers.org/clinvar/297662 ^@ NM_014762.3(DHCR24):c.388-10G>T http://identifiers.org/clinvar/298299 ^@ NM_000110.3(DPYD):c.995G>A (p.Arg332Gln) http://identifiers.org/clinvar/297663 ^@ NM_014762.3(DHCR24):c.360C>T (p.Asp120=) http://identifiers.org/clinvar/297669 ^@ NM_014762.3(DHCR24):c.-77C>T http://identifiers.org/clinvar/297674 ^@ NM_057176.2(BSND):c.-70C>G http://identifiers.org/clinvar/296536 ^@ NM_000254.2(MTR):c.-321C>G http://identifiers.org/clinvar/291324 ^@ NM_000642.2(AGL):c.334A>G (p.Ile112Val) http://identifiers.org/clinvar/296542 ^@ NM_000254.2(MTR):c.-133G>A http://identifiers.org/clinvar/296547 ^@ NM_000254.2(MTR):c.34+10C>T http://identifiers.org/clinvar/296548 ^@ NM_000254.2(MTR):c.34+13C>A http://identifiers.org/clinvar/296369 ^@ NM_000081.3(LYST):c.8742A>G (p.Lys2914=) http://identifiers.org/clinvar/296370 ^@ NM_000081.3(LYST):c.8537A>C (p.Glu2846Ala) http://identifiers.org/clinvar/297678 ^@ NM_057176.2(BSND):c.604G>A (p.Asp202Asn) http://identifiers.org/clinvar/291325 ^@ NM_000642.2(AGL):c.515G>C (p.Cys172Ser) http://identifiers.org/clinvar/291328 ^@ NM_000642.2(AGL):c.880C>T (p.Pro294Ser) http://identifiers.org/clinvar/297687 ^@ NM_174936.3(PCSK9):c.-221T>G http://identifiers.org/clinvar/297690 ^@ NM_174936.3(PCSK9):c.-180T>G http://identifiers.org/clinvar/291329 ^@ NM_000642.2(AGL):c.1050G>A (p.Met350Ile) http://identifiers.org/clinvar/291333 ^@ NM_000642.2(AGL):c.1759C>T (p.His587Tyr) http://identifiers.org/clinvar/296376 ^@ NM_000081.3(LYST):c.8214G>C (p.Glu2738Asp) http://identifiers.org/clinvar/297692 ^@ NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) http://identifiers.org/clinvar/296549 ^@ NM_000254.2(MTR):c.181A>C (p.Arg61=) http://identifiers.org/clinvar/296558 ^@ NM_000254.2(MTR):c.1076-8C>T http://identifiers.org/clinvar/297695 ^@ NM_174936.3(PCSK9):c.627C>T (p.Pro209=) http://identifiers.org/clinvar/291337 ^@ NM_000642.2(AGL):c.2248G>T (p.Ala750Ser) http://identifiers.org/clinvar/297696 ^@ NM_174936.3(PCSK9):c.847C>A (p.Leu283Met) http://identifiers.org/clinvar/296560 ^@ NM_000254.2(MTR):c.1128G>A (p.Glu376=) http://identifiers.org/clinvar/296379 ^@ NM_000081.3(LYST):c.7506A>C (p.Gln2502His) http://identifiers.org/clinvar/296381 ^@ NM_000081.3(LYST):c.7385C>A (p.Ala2462Glu) http://identifiers.org/clinvar/296576 ^@ NM_000254.2(MTR):c.3337G>A (p.Ala1113Thr) http://identifiers.org/clinvar/296577 ^@ NM_000254.2(MTR):c.3477C>T (p.Asp1159=) http://identifiers.org/clinvar/296383 ^@ NM_000081.3(LYST):c.6772G>C (p.Ala2258Pro) http://identifiers.org/clinvar/296387 ^@ NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr) http://identifiers.org/clinvar/297697 ^@ NM_174936.3(PCSK9):c.955C>T (p.Arg319Trp) http://identifiers.org/clinvar/291346 ^@ NM_000642.2(AGL):c.4207A>T (p.Ile1403Phe) http://identifiers.org/clinvar/291351 ^@ NM_000642.2(AGL):c.*272G>T http://identifiers.org/clinvar/296389 ^@ NM_000081.3(LYST):c.6188G>A (p.Arg2063Lys) http://identifiers.org/clinvar/291368 ^@ NM_000642.2(AGL):c.*1296A>C http://identifiers.org/clinvar/291370 ^@ NM_000642.2(AGL):c.*1691A>G http://identifiers.org/clinvar/296579 ^@ NM_000254.2(MTR):c.3496C>T (p.Leu1166=) http://identifiers.org/clinvar/296583 ^@ NM_000254.2(MTR):c.3599-10C>A http://identifiers.org/clinvar/296585 ^@ NM_000254.2(MTR):c.3712-7T>G http://identifiers.org/clinvar/330618 ^@ NM_003597.4(KLF11):c.-80_-78delGCC http://identifiers.org/clinvar/297702 ^@ NM_174936.3(PCSK9):c.1332G>A (p.Leu444=) http://identifiers.org/clinvar/296400 ^@ NM_000081.3(LYST):c.3834G>A (p.Leu1278=) http://identifiers.org/clinvar/296596 ^@ NM_000254.2(MTR):c.*765T>G http://identifiers.org/clinvar/296402 ^@ NM_000081.3(LYST):c.3712+12T>C http://identifiers.org/clinvar/296595 ^@ NM_000254.2(MTR):c.*773delT http://identifiers.org/clinvar/297703 ^@ NM_174936.3(PCSK9):c.1697G>C (p.Trp566Ser) http://identifiers.org/clinvar/296598 ^@ NM_000254.2(MTR):c.*905G>A http://identifiers.org/clinvar/330619 ^@ NM_003597.4(KLF11):c.-80_-78dupGCC http://identifiers.org/clinvar/296404 ^@ NM_000081.3(LYST):c.3616G>C (p.Asp1206His) http://identifiers.org/clinvar/330624 ^@ NM_003597.4(KLF11):c.266C>T (p.Ala89Val) http://identifiers.org/clinvar/296406 ^@ NM_000081.3(LYST):c.3167A>C (p.Lys1056Thr) http://identifiers.org/clinvar/296407 ^@ NM_000081.3(LYST):c.3160A>G (p.Ser1054Gly) http://identifiers.org/clinvar/297717 ^@ NM_174936.3(PCSK9):c.*207G>A http://identifiers.org/clinvar/330629 ^@ NM_003597.4(KLF11):c.679A>G (p.Asn227Asp) http://identifiers.org/clinvar/296412 ^@ NM_000081.3(LYST):c.2908A>C (p.Ile970Leu) http://identifiers.org/clinvar/297718 ^@ NM_174936.3(PCSK9):c.*232C>T http://identifiers.org/clinvar/330630 ^@ NM_003597.4(KLF11):c.689C>T (p.Ser230Phe) http://identifiers.org/clinvar/296599 ^@ NM_000254.2(MTR):c.*917G>A http://identifiers.org/clinvar/296607 ^@ NM_000254.2(MTR):c.*1134G>A http://identifiers.org/clinvar/297721 ^@ NM_174936.3(PCSK9):c.*345C>T http://identifiers.org/clinvar/330636 ^@ NM_003597.4(KLF11):c.1077G>A (p.Met359Ile) http://identifiers.org/clinvar/297725 ^@ NM_174936.3(PCSK9):c.*426C>A http://identifiers.org/clinvar/296609 ^@ NM_000254.2(MTR):c.*1252C>T http://identifiers.org/clinvar/297729 ^@ NM_174936.3(PCSK9):c.*470G>A http://identifiers.org/clinvar/296613 ^@ NM_000254.2(MTR):c.*1451T>G http://identifiers.org/clinvar/330641 ^@ NM_003597.4(KLF11):c.*96dupA http://identifiers.org/clinvar/296626 ^@ NM_000254.2(MTR):c.*2197C>G http://identifiers.org/clinvar/296632 ^@ NM_000254.2(MTR):c.*2538A>G http://identifiers.org/clinvar/296634 ^@ NM_000254.2(MTR):c.*2726A>G http://identifiers.org/clinvar/330644 ^@ NM_003597.4(KLF11):c.*166C>T http://identifiers.org/clinvar/296416 ^@ NM_000081.3(LYST):c.2725G>A (p.Val909Ile) http://identifiers.org/clinvar/296636 ^@ NM_000254.2(MTR):c.*2773_*2774dupAA http://identifiers.org/clinvar/297733 ^@ NM_174936.3(PCSK9):c.*548T>C http://identifiers.org/clinvar/330645 ^@ NM_003597.4(KLF11):c.*192T>C http://identifiers.org/clinvar/330649 ^@ NM_003597.4(KLF11):c.*226_*227dupTT http://identifiers.org/clinvar/296426 ^@ NM_000081.3(LYST):c.1996A>G (p.Ser666Gly) http://identifiers.org/clinvar/330652 ^@ NM_003597.4(KLF11):c.*241A>G http://identifiers.org/clinvar/330653 ^@ NM_003597.4(KLF11):c.*435A>T http://identifiers.org/clinvar/296643 ^@ NM_000254.2(MTR):c.*3166C>T http://identifiers.org/clinvar/296644 ^@ NM_000254.2(MTR):c.*3174C>T http://identifiers.org/clinvar/296645 ^@ NM_000254.2(MTR):c.*3226A>G http://identifiers.org/clinvar/297744 ^@ NM_174936.3(PCSK9):c.*1151delA http://identifiers.org/clinvar/296649 ^@ NM_000254.2(MTR):c.*3428G>A http://identifiers.org/clinvar/296654 ^@ NM_000254.2(MTR):c.*3677T>G http://identifiers.org/clinvar/330661 ^@ NM_003597.4(KLF11):c.*980T>C http://identifiers.org/clinvar/296429 ^@ NM_000081.3(LYST):c.1655T>C (p.Val552Ala) http://identifiers.org/clinvar/296657 ^@ NM_000254.2(MTR):c.*3808A>G http://identifiers.org/clinvar/297745 ^@ NM_174936.3(PCSK9):c.*1154C>A http://identifiers.org/clinvar/296658 ^@ NM_000254.2(MTR):c.*3824delC http://identifiers.org/clinvar/296660 ^@ NM_000254.2(MTR):c.*3988G>A http://identifiers.org/clinvar/297746 ^@ NM_174936.3(PCSK9):c.*1170_*1173dupGTTT http://identifiers.org/clinvar/297747 ^@ NM_174936.3(PCSK9):c.*1229G>T http://identifiers.org/clinvar/296430 ^@ NM_000081.3(LYST):c.1494A>G (p.Arg498=) http://identifiers.org/clinvar/330662 ^@ NM_003597.4(KLF11):c.*982G>A http://identifiers.org/clinvar/330669 ^@ NM_003597.4(KLF11):c.*1558T>C http://identifiers.org/clinvar/297750 ^@ NM_002353.2(TACSTD2):c.*714dupT http://identifiers.org/clinvar/297751 ^@ NM_002353.2(TACSTD2):c.*656T>A http://identifiers.org/clinvar/296431 ^@ NM_000081.3(LYST):c.1478A>G (p.His493Arg) http://identifiers.org/clinvar/296432 ^@ NM_000081.3(LYST):c.916T>G (p.Leu306Val) http://identifiers.org/clinvar/296662 ^@ NM_000254.2(MTR):c.*4114A>C http://identifiers.org/clinvar/296663 ^@ NM_000254.2(MTR):c.*4145C>G http://identifiers.org/clinvar/297753 ^@ NM_002353.2(TACSTD2):c.*565G>T http://identifiers.org/clinvar/296440 ^@ NM_000081.3(LYST):c.-97-5dupT http://identifiers.org/clinvar/297756 ^@ NM_002353.2(TACSTD2):c.*280T>C http://identifiers.org/clinvar/330671 ^@ NM_003597.4(KLF11):c.*1612C>G http://identifiers.org/clinvar/330678 ^@ NM_003597.4(KLF11):c.*2144C>T http://identifiers.org/clinvar/297768 ^@ NM_002353.2(TACSTD2):c.648C>A (p.Asp216Glu) http://identifiers.org/clinvar/297770 ^@ NM_002353.2(TACSTD2):c.441G>C (p.Glu147Asp) http://identifiers.org/clinvar/297774 ^@ NM_002353.2(TACSTD2):c.-54A>C http://identifiers.org/clinvar/297775 ^@ NM_002353.2(TACSTD2):c.-56C>T http://identifiers.org/clinvar/330685 ^@ NM_022336.3(EDAR):c.*1900C>T http://identifiers.org/clinvar/296667 ^@ NM_000254.2(MTR):c.*4347A>T http://identifiers.org/clinvar/330687 ^@ NM_022336.3(EDAR):c.*1761G>A http://identifiers.org/clinvar/296441 ^@ NM_000081.3(LYST):c.-97-9T>G http://identifiers.org/clinvar/296443 ^@ NM_000081.3(LYST):c.-134G>C http://identifiers.org/clinvar/296447 ^@ NM_000081.3(LYST):c.-142C>T http://identifiers.org/clinvar/296668 ^@ NM_000254.2(MTR):c.*4382C>T http://identifiers.org/clinvar/330692 ^@ NM_022336.3(EDAR):c.*1226A>C http://identifiers.org/clinvar/296449 ^@ NM_145861.2(EDARADD):c.220-15C>T http://identifiers.org/clinvar/330693 ^@ NM_022336.3(EDAR):c.*1181C>T http://identifiers.org/clinvar/330696 ^@ NM_022336.3(EDAR):c.*999C>T http://identifiers.org/clinvar/330700 ^@ NM_022336.3(EDAR):c.*625C>A http://identifiers.org/clinvar/296452 ^@ NM_145861.2(EDARADD):c.600C>T (p.Asp200=) http://identifiers.org/clinvar/296459 ^@ NM_145861.2(EDARADD):c.*354G>C http://identifiers.org/clinvar/297780 ^@ NM_002353.2(TACSTD2):c.-314G>A http://identifiers.org/clinvar/297782 ^@ NM_015102.4(NPHP4):c.*128A>C http://identifiers.org/clinvar/297787 ^@ NM_015102.4(NPHP4):c.3762G>T (p.Gly1254=) http://identifiers.org/clinvar/296678 ^@ NM_000254.2(MTR):c.*5112A>G http://identifiers.org/clinvar/330704 ^@ NM_022336.3(EDAR):c.*188G>C http://identifiers.org/clinvar/296681 ^@ NM_000254.2(MTR):c.*5209_*5213delAAAAC http://identifiers.org/clinvar/296463 ^@ NM_145861.2(EDARADD):c.*678A>C http://identifiers.org/clinvar/296466 ^@ NM_145861.2(EDARADD):c.*746G>T http://identifiers.org/clinvar/330706 ^@ NM_022336.3(EDAR):c.1183A>G (p.Met395Val) http://identifiers.org/clinvar/296468 ^@ NM_145861.2(EDARADD):c.*921G>A http://identifiers.org/clinvar/297788 ^@ NM_015102.4(NPHP4):c.3758G>A (p.Arg1253Gln) http://identifiers.org/clinvar/297790 ^@ NM_015102.4(NPHP4):c.3705C>T (p.Arg1235=) http://identifiers.org/clinvar/330708 ^@ NM_022336.3(EDAR):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/296473 ^@ NM_145861.2(EDARADD):c.*1459dupT http://identifiers.org/clinvar/330723 ^@ NM_022336.3(EDAR):c.-414A>G http://identifiers.org/clinvar/296475 ^@ NM_145861.2(EDARADD):c.*1535C>T http://identifiers.org/clinvar/296684 ^@ NM_000254.2(MTR):c.*5294G>C http://identifiers.org/clinvar/296692 ^@ NM_000254.2(MTR):c.*5882G>A http://identifiers.org/clinvar/296484 ^@ NM_145861.2(EDARADD):c.*1887G>A http://identifiers.org/clinvar/330724 ^@ NM_000272.3(NPHP1):c.*336_*338delAAC http://identifiers.org/clinvar/296488 ^@ NM_145861.2(EDARADD):c.*2058dupA http://identifiers.org/clinvar/296491 ^@ NM_001103.3(ACTN2):c.-104C>A http://identifiers.org/clinvar/296495 ^@ NM_001103.3(ACTN2):c.31A>C (p.Asn11His) http://identifiers.org/clinvar/296500 ^@ NM_001103.3(ACTN2):c.777G>A (p.Ala259=) http://identifiers.org/clinvar/296815 ^@ NM_000975.3(RPL11):c.30C>T (p.Asn10=) http://identifiers.org/clinvar/297796 ^@ NM_015102.4(NPHP4):c.3078C>T (p.Phe1026=) http://identifiers.org/clinvar/297798 ^@ NM_015102.4(NPHP4):c.3046G>A (p.Val1016Ile) http://identifiers.org/clinvar/330725 ^@ NM_000272.3(NPHP1):c.*322A>G http://identifiers.org/clinvar/296504 ^@ NM_001103.3(ACTN2):c.1031A>C (p.Asn344Thr) http://identifiers.org/clinvar/330727 ^@ NM_000272.3(NPHP1):c.2100C>T (p.Gly700=) http://identifiers.org/clinvar/296508 ^@ NM_001103.3(ACTN2):c.2201C>T (p.Thr734Ile) http://identifiers.org/clinvar/297802 ^@ NM_015102.4(NPHP4):c.2701C>T (p.Pro901Ser) http://identifiers.org/clinvar/296510 ^@ NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) http://identifiers.org/clinvar/296514 ^@ NM_001103.3(ACTN2):c.*286T>C http://identifiers.org/clinvar/297806 ^@ NM_015102.4(NPHP4):c.2459G>A (p.Arg820Gln) http://identifiers.org/clinvar/330728 ^@ NM_000272.3(NPHP1):c.1889C>T (p.Ser630Leu) http://identifiers.org/clinvar/296518 ^@ NM_001103.3(ACTN2):c.*526T>C http://identifiers.org/clinvar/296520 ^@ NM_001103.3(ACTN2):c.*724G>C http://identifiers.org/clinvar/296537 ^@ NM_000254.2(MTR):c.-249C>T http://identifiers.org/clinvar/297807 ^@ NM_015102.4(NPHP4):c.2419C>T (p.Arg807Cys) http://identifiers.org/clinvar/297809 ^@ NM_015102.4(NPHP4):c.2246T>C (p.Ile749Thr) http://identifiers.org/clinvar/296538 ^@ NM_000254.2(MTR):c.-201C>G http://identifiers.org/clinvar/296539 ^@ NM_000254.2(MTR):c.-198C>G http://identifiers.org/clinvar/296550 ^@ NM_000254.2(MTR):c.250-7G>A http://identifiers.org/clinvar/296816 ^@ NM_000975.3(RPL11):c.102G>A (p.Thr34=) http://identifiers.org/clinvar/297812 ^@ NM_015102.4(NPHP4):c.1987C>A (p.Pro663Thr) http://identifiers.org/clinvar/297818 ^@ NM_015102.4(NPHP4):c.1527C>T (p.Ala509=) http://identifiers.org/clinvar/297824 ^@ NM_015102.4(NPHP4):c.1166T>C (p.Val389Ala) http://identifiers.org/clinvar/297827 ^@ NM_015102.4(NPHP4):c.1047C>T (p.Val349=) http://identifiers.org/clinvar/330729 ^@ NM_000272.3(NPHP1):c.1690G>C (p.Val564Leu) http://identifiers.org/clinvar/296817 ^@ NM_000975.3(RPL11):c.153C>T (p.Ser51=) http://identifiers.org/clinvar/296554 ^@ NM_000254.2(MTR):c.866-10C>G http://identifiers.org/clinvar/296820 ^@ NM_000975.3(RPL11):c.306T>C (p.Thr102=) http://identifiers.org/clinvar/330730 ^@ NM_000272.3(NPHP1):c.1637G>A (p.Arg546Lys) http://identifiers.org/clinvar/296556 ^@ NM_000254.2(MTR):c.940G>A (p.Asp314Asn) http://identifiers.org/clinvar/330754 ^@ NM_006343.2(MERTK):c.1397G>A (p.Arg466Lys) http://identifiers.org/clinvar/296559 ^@ NM_000254.2(MTR):c.1080A>G (p.Leu360=) http://identifiers.org/clinvar/296563 ^@ NM_000254.2(MTR):c.1310C>A (p.Ser437Tyr) http://identifiers.org/clinvar/297832 ^@ NM_015102.4(NPHP4):c.6C>T (p.Asn2=) http://identifiers.org/clinvar/330757 ^@ NM_006343.2(MERTK):c.1441C>T (p.Pro481Ser) http://identifiers.org/clinvar/296571 ^@ NM_000254.2(MTR):c.2474-19_2474-15delTTAAA http://identifiers.org/clinvar/330762 ^@ NM_006343.2(MERTK):c.1881A>G (p.Ser627=) http://identifiers.org/clinvar/296575 ^@ NM_000254.2(MTR):c.3035A>T (p.Asp1012Val) http://identifiers.org/clinvar/297835 ^@ NM_015102.4(NPHP4):c.-202C>T http://identifiers.org/clinvar/330769 ^@ NM_006343.2(MERTK):c.*57T>A http://identifiers.org/clinvar/296702 ^@ NM_001035.2(RYR2):c.577-14G>A http://identifiers.org/clinvar/296705 ^@ NM_001035.2(RYR2):c.828A>G (p.Arg276=) http://identifiers.org/clinvar/297838 ^@ NM_015102.4(NPHP4):c.-235G>A http://identifiers.org/clinvar/296713 ^@ NM_001035.2(RYR2):c.2101G>A (p.Glu701Lys) http://identifiers.org/clinvar/297842 ^@ NM_013339.3(ALG6):c.-207-12T>C http://identifiers.org/clinvar/330772 ^@ NM_006343.2(MERTK):c.*309C>A http://identifiers.org/clinvar/297843 ^@ NM_013339.3(ALG6):c.-136C>G http://identifiers.org/clinvar/330798 ^@ NM_012275.2(IL36RN):c.*946T>C http://identifiers.org/clinvar/330802 ^@ NM_012275.2(IL36RN):c.*1399T>C http://identifiers.org/clinvar/297844 ^@ NM_013339.3(ALG6):c.-128C>T http://identifiers.org/clinvar/330807 ^@ NM_012275.2(IL36RN):c.*1660G>A http://identifiers.org/clinvar/297846 ^@ NM_013339.3(ALG6):c.167+7T>C http://identifiers.org/clinvar/297848 ^@ NM_013339.3(ALG6):c.430-9T>G http://identifiers.org/clinvar/297849 ^@ NM_013339.3(ALG6):c.495A>G (p.Gln165=) http://identifiers.org/clinvar/296716 ^@ NM_001035.2(RYR2):c.2772G>A (p.Leu924=) http://identifiers.org/clinvar/297851 ^@ NM_013339.3(ALG6):c.862A>G (p.Ile288Val) http://identifiers.org/clinvar/330809 ^@ NM_012275.2(IL36RN):c.*1844A>G http://identifiers.org/clinvar/330811 ^@ NM_012275.2(IL36RN):c.*1881G>T http://identifiers.org/clinvar/297852 ^@ NM_013339.3(ALG6):c.*89G>A http://identifiers.org/clinvar/297853 ^@ NM_013339.3(ALG6):c.*152T>C http://identifiers.org/clinvar/297862 ^@ NM_013339.3(ALG6):c.*961C>T http://identifiers.org/clinvar/330814 ^@ NM_012275.2(IL36RN):c.*1942C>G http://identifiers.org/clinvar/330823 ^@ NM_173841.2(IL1RN):c.78G>A (p.Thr26=) http://identifiers.org/clinvar/297870 ^@ NM_013339.3(ALG6):c.*1434T>C http://identifiers.org/clinvar/297876 ^@ NM_002633.2(PGM1):c.708C>G (p.Ile236Met) http://identifiers.org/clinvar/297878 ^@ NM_002633.2(PGM1):c.900T>C (p.His300=) http://identifiers.org/clinvar/296718 ^@ NM_001035.2(RYR2):c.3181G>A (p.Gly1061Ser) http://identifiers.org/clinvar/296720 ^@ NM_001035.2(RYR2):c.3496G>A (p.Val1166Ile) http://identifiers.org/clinvar/297885 ^@ NM_002633.2(PGM1):c.1258T>C (p.Tyr420His) http://identifiers.org/clinvar/330831 ^@ NM_173841.2(IL1RN):c.*130C>T http://identifiers.org/clinvar/330832 ^@ NM_173841.2(IL1RN):c.*138C>G http://identifiers.org/clinvar/297886 ^@ NM_002633.2(PGM1):c.1280+7C>T http://identifiers.org/clinvar/296725 ^@ NM_001035.2(RYR2):c.4695T>C (p.Pro1565=) http://identifiers.org/clinvar/330837 ^@ NM_173841.2(IL1RN):c.*311G>A http://identifiers.org/clinvar/296728 ^@ NM_001035.2(RYR2):c.5220T>G (p.Pro1740=) http://identifiers.org/clinvar/330839 ^@ NM_173841.2(IL1RN):c.*382C>T http://identifiers.org/clinvar/296741 ^@ NM_001035.2(RYR2):c.9601G>A (p.Val3201Met) http://identifiers.org/clinvar/296745 ^@ NM_001035.2(RYR2):c.9995C>T (p.Thr3332Met) http://identifiers.org/clinvar/297892 ^@ NM_002633.2(PGM1):c.1501G>A (p.Val501Ile) http://identifiers.org/clinvar/330840 ^@ NM_173841.2(IL1RN):c.*490delT http://identifiers.org/clinvar/296751 ^@ NM_001035.2(RYR2):c.11092-10A>T http://identifiers.org/clinvar/330842 ^@ NM_173841.2(IL1RN):c.*644delT http://identifiers.org/clinvar/330852 ^@ NM_003466.3(PAX8):c.*2503_*2504dupTA http://identifiers.org/clinvar/297893 ^@ NM_002633.2(PGM1):c.1599+9C>T http://identifiers.org/clinvar/297894 ^@ NM_002633.2(PGM1):c.*22C>T http://identifiers.org/clinvar/296584 ^@ NM_000254.2(MTR):c.3665A>G (p.Asn1222Ser) http://identifiers.org/clinvar/296589 ^@ NM_000254.2(MTR):c.*286C>T http://identifiers.org/clinvar/296590 ^@ NM_000254.2(MTR):c.*287G>A http://identifiers.org/clinvar/297897 ^@ NM_002633.2(PGM1):c.*93A>C http://identifiers.org/clinvar/296594 ^@ NM_000254.2(MTR):c.*760G>T http://identifiers.org/clinvar/296763 ^@ NM_001035.2(RYR2):c.13482T>C (p.Tyr4494=) http://identifiers.org/clinvar/296764 ^@ NM_001035.2(RYR2):c.13718G>A (p.Arg4573His) http://identifiers.org/clinvar/296597 ^@ NM_000254.2(MTR):c.*820A>G http://identifiers.org/clinvar/296766 ^@ NM_001035.2(RYR2):c.14692T>A (p.Phe4898Ile) http://identifiers.org/clinvar/296602 ^@ NM_000254.2(MTR):c.*945delC http://identifiers.org/clinvar/297905 ^@ NM_020631.4(PLEKHG5):c.*1413_*1420delAGAGCACG http://identifiers.org/clinvar/296770 ^@ NM_001035.2(RYR2):c.*84delT http://identifiers.org/clinvar/296773 ^@ NM_001035.2(RYR2):c.*130G>A http://identifiers.org/clinvar/297906 ^@ NM_020631.4(PLEKHG5):c.*1379_*1382delGGCG http://identifiers.org/clinvar/330853 ^@ NM_003466.3(PAX8):c.*2478C>T http://identifiers.org/clinvar/297908 ^@ NM_020631.4(PLEKHG5):c.*1347G>T http://identifiers.org/clinvar/330856 ^@ NM_003466.3(PAX8):c.*2320G>A http://identifiers.org/clinvar/296605 ^@ NM_000254.2(MTR):c.*1105G>C http://identifiers.org/clinvar/296606 ^@ NM_000254.2(MTR):c.*1133C>T http://identifiers.org/clinvar/297909 ^@ NM_020631.4(PLEKHG5):c.*1313C>T http://identifiers.org/clinvar/330858 ^@ NM_003466.3(PAX8):c.*2309A>G http://identifiers.org/clinvar/330863 ^@ NM_003466.3(PAX8):c.*1977T>C http://identifiers.org/clinvar/296611 ^@ NM_000254.2(MTR):c.*1361A>G http://identifiers.org/clinvar/297910 ^@ NM_020631.4(PLEKHG5):c.*1304G>A http://identifiers.org/clinvar/296614 ^@ NM_000254.2(MTR):c.*1469T>C http://identifiers.org/clinvar/297913 ^@ NM_020631.4(PLEKHG5):c.*1052G>A http://identifiers.org/clinvar/297921 ^@ NM_020631.4(PLEKHG5):c.*775T>G http://identifiers.org/clinvar/296618 ^@ NM_000254.2(MTR):c.*1684C>T http://identifiers.org/clinvar/297926 ^@ NM_020631.4(PLEKHG5):c.*555T>A http://identifiers.org/clinvar/330866 ^@ NM_003466.3(PAX8):c.*1765G>A http://identifiers.org/clinvar/330869 ^@ NM_003466.3(PAX8):c.*1029G>A http://identifiers.org/clinvar/297927 ^@ NM_020631.4(PLEKHG5):c.*363C>G http://identifiers.org/clinvar/297934 ^@ NM_020631.4(PLEKHG5):c.2759_2761delCTC (p.Pro920del) http://identifiers.org/clinvar/297935 ^@ NM_020631.4(PLEKHG5):c.2746A>C (p.Thr916Pro) http://identifiers.org/clinvar/297947 ^@ NM_020631.4(PLEKHG5):c.2249+4C>T http://identifiers.org/clinvar/330871 ^@ NM_003466.3(PAX8):c.*1000T>C http://identifiers.org/clinvar/296622 ^@ NM_000254.2(MTR):c.*1786C>G http://identifiers.org/clinvar/330873 ^@ NM_003466.3(PAX8):c.*845G>A http://identifiers.org/clinvar/296623 ^@ NM_000254.2(MTR):c.*1864T>C http://identifiers.org/clinvar/296627 ^@ NM_000254.2(MTR):c.*2276G>A http://identifiers.org/clinvar/296628 ^@ NM_000254.2(MTR):c.*2343A>G http://identifiers.org/clinvar/296777 ^@ NM_001035.2(RYR2):c.*272C>A http://identifiers.org/clinvar/330883 ^@ NM_003466.3(PAX8):c.1275G>A (p.Leu425=) http://identifiers.org/clinvar/330896 ^@ NM_003466.3(PAX8):c.5C>T (p.Pro2Leu) http://identifiers.org/clinvar/296780 ^@ NM_001035.2(RYR2):c.*338C>T http://identifiers.org/clinvar/296782 ^@ NM_001035.2(RYR2):c.*378C>A http://identifiers.org/clinvar/296786 ^@ NM_001035.2(RYR2):c.*566G>T http://identifiers.org/clinvar/330906 ^@ NM_145693.3(LPIN1):c.429C>T (p.Ser143=) http://identifiers.org/clinvar/296630 ^@ NM_000254.2(MTR):c.*2388G>C http://identifiers.org/clinvar/330909 ^@ NM_145693.3(LPIN1):c.688C>T (p.Pro230Ser) http://identifiers.org/clinvar/330910 ^@ NM_145693.3(LPIN1):c.695C>T (p.Ser232Leu) http://identifiers.org/clinvar/330912 ^@ NM_145693.3(LPIN1):c.858T>C (p.Ser286=) http://identifiers.org/clinvar/297949 ^@ NM_020631.4(PLEKHG5):c.2166_2168dupGGA (p.Glu723_Gly724insGlu) http://identifiers.org/clinvar/297952 ^@ NM_020631.4(PLEKHG5):c.2132A>G (p.Gln711Arg) http://identifiers.org/clinvar/297953 ^@ NM_020631.4(PLEKHG5):c.1883G>A (p.Arg628Lys) http://identifiers.org/clinvar/296794 ^@ NM_001035.2(RYR2):c.*711C>G http://identifiers.org/clinvar/330914 ^@ NM_145693.3(LPIN1):c.1117C>G (p.Gln373Glu) http://identifiers.org/clinvar/330915 ^@ NM_145693.3(LPIN1):c.1185C>T (p.Asp395=) http://identifiers.org/clinvar/296796 ^@ NM_001035.2(RYR2):c.*712C>G http://identifiers.org/clinvar/296799 ^@ NM_001035.2(RYR2):c.*714C>G http://identifiers.org/clinvar/297954 ^@ NM_020631.4(PLEKHG5):c.1801-12C>A http://identifiers.org/clinvar/297955 ^@ NM_020631.4(PLEKHG5):c.1576A>G (p.Asn526Asp) http://identifiers.org/clinvar/296793 ^@ NM_001035.2(RYR2):c.*716delC http://identifiers.org/clinvar/297956 ^@ NM_020631.4(PLEKHG5):c.1552G>A (p.Val518Met) http://identifiers.org/clinvar/296792 ^@ NM_001035.2(RYR2):c.*716dupC http://identifiers.org/clinvar/296806 ^@ NM_001035.2(RYR2):c.*1065A>G http://identifiers.org/clinvar/296631 ^@ NM_000254.2(MTR):c.*2391G>C http://identifiers.org/clinvar/330927 ^@ NM_145693.3(LPIN1):c.*541C>T http://identifiers.org/clinvar/296635 ^@ NM_000254.2(MTR):c.*2774dupA http://identifiers.org/clinvar/330942 ^@ NM_145693.3(LPIN1):c.*1656G>C http://identifiers.org/clinvar/296639 ^@ NM_000254.2(MTR):c.*2879G>A http://identifiers.org/clinvar/296640 ^@ NM_000254.2(MTR):c.*2887C>G http://identifiers.org/clinvar/296652 ^@ NM_000254.2(MTR):c.*3493A>G http://identifiers.org/clinvar/297961 ^@ NM_020631.4(PLEKHG5):c.928G>A (p.Asp310Asn) http://identifiers.org/clinvar/296653 ^@ NM_000254.2(MTR):c.*3601G>A http://identifiers.org/clinvar/330943 ^@ NM_145693.3(LPIN1):c.*1671C>T http://identifiers.org/clinvar/296808 ^@ NM_001035.2(RYR2):c.*1108A>G http://identifiers.org/clinvar/330947 ^@ NM_145693.3(LPIN1):c.*1747delG http://identifiers.org/clinvar/296810 ^@ NM_001035.2(RYR2):c.*1152G>A http://identifiers.org/clinvar/296665 ^@ NM_000254.2(MTR):c.*4286T>C http://identifiers.org/clinvar/330950 ^@ NM_145693.3(LPIN1):c.*2029G>A http://identifiers.org/clinvar/296672 ^@ NM_000254.2(MTR):c.*4461T>G http://identifiers.org/clinvar/330951 ^@ NM_145693.3(LPIN1):c.*2052C>T http://identifiers.org/clinvar/330958 ^@ NM_145693.3(LPIN1):c.*2491G>A http://identifiers.org/clinvar/296676 ^@ NM_000254.2(MTR):c.*4823G>A http://identifiers.org/clinvar/297965 ^@ NM_020631.4(PLEKHG5):c.806A>T (p.Lys269Met) http://identifiers.org/clinvar/296813 ^@ NM_001035.2(RYR2):c.*1329C>G http://identifiers.org/clinvar/297966 ^@ NM_020631.4(PLEKHG5):c.795+13A>G http://identifiers.org/clinvar/297971 ^@ NM_020631.4(PLEKHG5):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/296823 ^@ NM_000403.3(GALE):c.*326_*328dupTAA http://identifiers.org/clinvar/330964 ^@ NM_005270.4(GLI2):c.220C>T (p.His74Tyr) http://identifiers.org/clinvar/296827 ^@ NM_000403.3(GALE):c.923A>G (p.Tyr308Cys) http://identifiers.org/clinvar/297980 ^@ NM_020631.4(PLEKHG5):c.22C>T (p.Arg8Cys) http://identifiers.org/clinvar/296682 ^@ NM_000254.2(MTR):c.*5248A>G http://identifiers.org/clinvar/296685 ^@ NM_000254.2(MTR):c.*5344G>A http://identifiers.org/clinvar/330974 ^@ NM_005270.4(GLI2):c.1941G>A (p.Lys647=) http://identifiers.org/clinvar/296818 ^@ NM_000975.3(RPL11):c.158-7C>T http://identifiers.org/clinvar/296822 ^@ NM_000975.3(RPL11):c.*52A>G http://identifiers.org/clinvar/330980 ^@ NM_005270.4(GLI2):c.2649G>A (p.Pro883=) http://identifiers.org/clinvar/330984 ^@ NM_005270.4(GLI2):c.3237C>T (p.Asp1079=) http://identifiers.org/clinvar/296828 ^@ NM_000403.3(GALE):c.879G>A (p.Pro293=) http://identifiers.org/clinvar/330987 ^@ NM_005270.4(GLI2):c.3467C>T (p.Ala1156Val) http://identifiers.org/clinvar/296838 ^@ NM_000403.3(GALE):c.-77+15G>C http://identifiers.org/clinvar/296841 ^@ NM_000191.2(HMGCL):c.*486G>A http://identifiers.org/clinvar/296845 ^@ NM_000191.2(HMGCL):c.*194C>G http://identifiers.org/clinvar/297986 ^@ NM_002303.5(LEPR):c.371A>G (p.Asp124Gly) http://identifiers.org/clinvar/297987 ^@ NM_002303.5(LEPR):c.536G>A (p.Gly179Asp) http://identifiers.org/clinvar/297992 ^@ NM_002303.5(LEPR):c.1166G>A (p.Ser389Asn) http://identifiers.org/clinvar/330998 ^@ NM_005270.4(GLI2):c.4497T>C (p.Thr1499=) http://identifiers.org/clinvar/296849 ^@ NM_000191.2(HMGCL):c.734C>T (p.Thr245Ile) http://identifiers.org/clinvar/330999 ^@ NM_005270.4(GLI2):c.*31G>A http://identifiers.org/clinvar/296850 ^@ NM_000191.2(HMGCL):c.708C>T (p.Asp236=) http://identifiers.org/clinvar/296701 ^@ NM_001035.2(RYR2):c.-20C>A http://identifiers.org/clinvar/331002 ^@ NM_005270.4(GLI2):c.*118C>T http://identifiers.org/clinvar/296703 ^@ NM_001035.2(RYR2):c.595G>A (p.Gly199Ser) http://identifiers.org/clinvar/297997 ^@ NM_002303.5(LEPR):c.2698A>G (p.Ile900Val) http://identifiers.org/clinvar/297999 ^@ NM_002303.5(LEPR):c.3019A>T (p.Ser1007Cys) http://identifiers.org/clinvar/298002 ^@ NM_002303.5(LEPR):c.3114A>G (p.Ile1038Met) http://identifiers.org/clinvar/331011 ^@ NM_005270.4(GLI2):c.*1330_*1331insCTACAC http://identifiers.org/clinvar/331010 ^@ NM_005270.4(GLI2):c.*1331_*1332insCACACA http://identifiers.org/clinvar/331018 ^@ NM_005270.4(GLI2):c.*1373_*1376delACAC http://identifiers.org/clinvar/331014 ^@ NM_005270.4(GLI2):c.*1373_*1376dupACAC http://identifiers.org/clinvar/296704 ^@ NM_001035.2(RYR2):c.625C>G (p.Gln209Glu) http://identifiers.org/clinvar/296706 ^@ NM_001035.2(RYR2):c.837G>A (p.Thr279=) http://identifiers.org/clinvar/298006 ^@ NM_002303.5(LEPR):c.*188A>C http://identifiers.org/clinvar/331028 ^@ NM_005270.4(GLI2):c.*1826T>G http://identifiers.org/clinvar/331039 ^@ NM_139343.2(BIN1):c.*194C>T http://identifiers.org/clinvar/298008 ^@ NM_002303.5(LEPR):c.*362_*363delCA http://identifiers.org/clinvar/298009 ^@ NM_002303.5(LEPR):c.*403T>C http://identifiers.org/clinvar/298015 ^@ NM_000329.2(RPE65):c.*531A>G http://identifiers.org/clinvar/296851 ^@ NM_000191.2(HMGCL):c.630C>T (p.Thr210=) http://identifiers.org/clinvar/296708 ^@ NM_001035.2(RYR2):c.1006-12C>T http://identifiers.org/clinvar/298016 ^@ NM_000329.2(RPE65):c.*517G>A http://identifiers.org/clinvar/331045 ^@ NM_139343.2(BIN1):c.1473T>C (p.Pro491=) http://identifiers.org/clinvar/298024 ^@ NM_000329.2(RPE65):c.267C>T (p.Tyr89=) http://identifiers.org/clinvar/296893 ^@ NM_000147.4(FUCA1):c.167C>G (p.Ala56Gly) http://identifiers.org/clinvar/296710 ^@ NM_001035.2(RYR2):c.1444C>T (p.Leu482=) http://identifiers.org/clinvar/298026 ^@ NM_001902.5(CTH):c.-151T>C http://identifiers.org/clinvar/296726 ^@ NM_001035.2(RYR2):c.4920C>A (p.Asp1640Glu) http://identifiers.org/clinvar/296729 ^@ NM_001035.2(RYR2):c.5763G>A (p.Arg1921=) http://identifiers.org/clinvar/296252 ^@ NM_153818.1(PEX10):c.*854G>A http://identifiers.org/clinvar/296264 ^@ NM_153818.1(PEX10):c.*410G>A http://identifiers.org/clinvar/331052 ^@ NM_139343.2(BIN1):c.961G>A (p.Gly321Arg) http://identifiers.org/clinvar/296266 ^@ NM_153818.1(PEX10):c.*310G>A http://identifiers.org/clinvar/331053 ^@ NM_139343.2(BIN1):c.681G>A (p.Leu227=) http://identifiers.org/clinvar/296270 ^@ NM_153818.1(PEX10):c.*16G>A http://identifiers.org/clinvar/331058 ^@ NM_139343.2(BIN1):c.-62G>A http://identifiers.org/clinvar/331060 ^@ NM_139343.2(BIN1):c.-163T>C http://identifiers.org/clinvar/298027 ^@ NM_001902.5(CTH):c.-140A>T http://identifiers.org/clinvar/331063 ^@ NM_139343.2(BIN1):c.-197C>A http://identifiers.org/clinvar/298035 ^@ NM_001902.5(CTH):c.864G>A (p.Lys288=) http://identifiers.org/clinvar/298036 ^@ NM_001902.5(CTH):c.995T>C (p.Leu332Pro) http://identifiers.org/clinvar/298037 ^@ NM_001902.5(CTH):c.1033G>A (p.Glu345Lys) http://identifiers.org/clinvar/296733 ^@ NM_001035.2(RYR2):c.7599T>C (p.Pro2533=) http://identifiers.org/clinvar/331067 ^@ NM_139343.2(BIN1):c.-366C>A http://identifiers.org/clinvar/296740 ^@ NM_001035.2(RYR2):c.9435T>C (p.Ser3145=) http://identifiers.org/clinvar/296273 ^@ NM_153818.1(PEX10):c.874_875delCT (p.Leu292Valfs) http://identifiers.org/clinvar/298040 ^@ NM_001902.5(CTH):c.1191+36_1191+43dupGTGTGTGT http://identifiers.org/clinvar/331071 ^@ NM_000122.1(ERCC3):c.*106T>C http://identifiers.org/clinvar/331073 ^@ NM_000122.1(ERCC3):c.2112G>A (p.Ser704=) http://identifiers.org/clinvar/298038 ^@ NM_001902.5(CTH):c.1191+40_1191+43dupGTGT http://identifiers.org/clinvar/298046 ^@ NM_001902.5(CTH):c.*389T>C http://identifiers.org/clinvar/331075 ^@ NM_000122.1(ERCC3):c.2105C>T (p.Ala702Val) http://identifiers.org/clinvar/331089 ^@ NM_000122.1(ERCC3):c.618C>T (p.Ala206=) http://identifiers.org/clinvar/296748 ^@ NM_001035.2(RYR2):c.10517G>A (p.Arg3506Gln) http://identifiers.org/clinvar/331096 ^@ NM_000122.1(ERCC3):c.28+8G>A http://identifiers.org/clinvar/331105 ^@ NM_000312.3(PROC):c.602C>T (p.Thr201Ile) http://identifiers.org/clinvar/296752 ^@ NM_001035.2(RYR2):c.11146-6G>A http://identifiers.org/clinvar/298051 ^@ NM_001902.5(CTH):c.*545C>T http://identifiers.org/clinvar/296275 ^@ NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) http://identifiers.org/clinvar/296278 ^@ NM_153818.1(PEX10):c.601-15G>A http://identifiers.org/clinvar/296279 ^@ NM_153818.1(PEX10):c.555C>T (p.His185=) http://identifiers.org/clinvar/298060 ^@ NM_000016.5(ACADM):c.-362T>C http://identifiers.org/clinvar/331109 ^@ NM_000312.3(PROC):c.927C>T (p.Ala309=) http://identifiers.org/clinvar/331111 ^@ NM_000312.3(PROC):c.1107G>A (p.Pro369=) http://identifiers.org/clinvar/296280 ^@ NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) http://identifiers.org/clinvar/296282 ^@ NM_153818.1(PEX10):c.280G>A (p.Val94Met) http://identifiers.org/clinvar/296283 ^@ NM_153818.1(PEX10):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/296753 ^@ NM_001035.2(RYR2):c.11557+14C>T http://identifiers.org/clinvar/296859 ^@ NM_000143.3(FH):c.*102T>C http://identifiers.org/clinvar/296754 ^@ NM_001035.2(RYR2):c.11557+15G>A http://identifiers.org/clinvar/296757 ^@ NM_001035.2(RYR2):c.12027C>T (p.Asn4009=) http://identifiers.org/clinvar/296862 ^@ NM_000143.3(FH):c.1237-5_1237-4insTCTC http://identifiers.org/clinvar/296865 ^@ NM_000143.3(FH):c.1237-14_1237-13dupTC http://identifiers.org/clinvar/296759 ^@ NM_001035.2(RYR2):c.12315C>T (p.Leu4105=) http://identifiers.org/clinvar/331115 ^@ NM_000312.3(PROC):c.*170G>T http://identifiers.org/clinvar/296872 ^@ NM_000143.3(FH):c.1237-16_1237-13delTCTC http://identifiers.org/clinvar/296866 ^@ NM_000143.3(FH):c.1237-16_1237-13dupTCTC http://identifiers.org/clinvar/331117 ^@ NM_012233.2(RAB3GAP1):c.94G>A (p.Glu32Lys) http://identifiers.org/clinvar/331119 ^@ NM_012233.2(RAB3GAP1):c.372A>G (p.Leu124=) http://identifiers.org/clinvar/296874 ^@ NM_000143.3(FH):c.379-15A>T http://identifiers.org/clinvar/296903 ^@ NM_006642.3(SDCCAG8):c.-4G>A http://identifiers.org/clinvar/331128 ^@ NM_012233.2(RAB3GAP1):c.1681C>G (p.Leu561Val) http://identifiers.org/clinvar/296906 ^@ NM_006642.3(SDCCAG8):c.306+11A>G http://identifiers.org/clinvar/296922 ^@ NM_006642.3(SDCCAG8):c.*304_*305insGACTT http://identifiers.org/clinvar/298069 ^@ NM_000016.5(ACADM):c.57T>C (p.His19=) http://identifiers.org/clinvar/298078 ^@ NM_000016.5(ACADM):c.*672T>C http://identifiers.org/clinvar/296924 ^@ NM_004895.4(NLRP3):c.-679G>A http://identifiers.org/clinvar/296760 ^@ NM_001035.2(RYR2):c.12333C>T (p.Asn4111=) http://identifiers.org/clinvar/331131 ^@ NM_012233.2(RAB3GAP1):c.*135C>G http://identifiers.org/clinvar/296768 ^@ NM_001035.2(RYR2):c.*56C>A http://identifiers.org/clinvar/331137 ^@ NM_012233.2(RAB3GAP1):c.*261dupG http://identifiers.org/clinvar/331144 ^@ NM_012233.2(RAB3GAP1):c.*985dupC http://identifiers.org/clinvar/331147 ^@ NM_012233.2(RAB3GAP1):c.*1208dupA http://identifiers.org/clinvar/296771 ^@ NM_001035.2(RYR2):c.*107G>A http://identifiers.org/clinvar/296783 ^@ NM_001035.2(RYR2):c.*379T>G http://identifiers.org/clinvar/298086 ^@ NM_144573.3(NEXN):c.-128A>G http://identifiers.org/clinvar/298091 ^@ NM_144573.3(NEXN):c.2021A>C (p.Lys674Thr) http://identifiers.org/clinvar/298093 ^@ NM_144573.3(NEXN):c.*22C>G http://identifiers.org/clinvar/331154 ^@ NM_002299.3(LCT):c.*444_*445delGT http://identifiers.org/clinvar/298097 ^@ NM_144573.3(NEXN):c.*356A>G http://identifiers.org/clinvar/331159 ^@ NM_002299.3(LCT):c.*50G>C http://identifiers.org/clinvar/331165 ^@ NM_002299.3(LCT):c.5529C>T (p.Pro1843=) http://identifiers.org/clinvar/296784 ^@ NM_001035.2(RYR2):c.*509A>G http://identifiers.org/clinvar/296790 ^@ NM_001035.2(RYR2):c.*642A>C http://identifiers.org/clinvar/298098 ^@ NM_144573.3(NEXN):c.*362G>C http://identifiers.org/clinvar/331167 ^@ NM_002299.3(LCT):c.4922T>C (p.Val1641Ala) http://identifiers.org/clinvar/331169 ^@ NM_002299.3(LCT):c.4777G>A (p.Val1593Met) http://identifiers.org/clinvar/298100 ^@ NM_144573.3(NEXN):c.*418delA http://identifiers.org/clinvar/296927 ^@ NM_004895.4(NLRP3):c.-537A>T http://identifiers.org/clinvar/296930 ^@ NM_004895.4(NLRP3):c.-476dupT http://identifiers.org/clinvar/298099 ^@ NM_144573.3(NEXN):c.*418dupA http://identifiers.org/clinvar/296801 ^@ NM_001035.2(RYR2):c.*787C>A http://identifiers.org/clinvar/331170 ^@ NM_002299.3(LCT):c.4695C>T (p.Tyr1565=) http://identifiers.org/clinvar/331172 ^@ NM_002299.3(LCT):c.4606C>T (p.Leu1536=) http://identifiers.org/clinvar/331175 ^@ NM_002299.3(LCT):c.4347T>C (p.Phe1449=) http://identifiers.org/clinvar/298105 ^@ NM_144573.3(NEXN):c.*661A>G http://identifiers.org/clinvar/298106 ^@ NM_144573.3(NEXN):c.*716_*722delTGTTGAG http://identifiers.org/clinvar/296803 ^@ NM_001035.2(RYR2):c.*890_*893dupACAA http://identifiers.org/clinvar/296934 ^@ NM_004895.4(NLRP3):c.-116T>C http://identifiers.org/clinvar/296943 ^@ NM_004895.4(NLRP3):c.404-5C>T http://identifiers.org/clinvar/331178 ^@ NM_002299.3(LCT):c.4173+6_4173+8delGAG http://identifiers.org/clinvar/331189 ^@ NM_002299.3(LCT):c.3286G>A (p.Ala1096Thr) http://identifiers.org/clinvar/298108 ^@ NM_144573.3(NEXN):c.*809T>G http://identifiers.org/clinvar/298114 ^@ NM_007262.4(PARK7):c.-80T>A http://identifiers.org/clinvar/298122 ^@ NM_007262.4(PARK7):c.323-14A>G http://identifiers.org/clinvar/298125 ^@ NM_053274.2(GLMN):c.*115G>C http://identifiers.org/clinvar/331190 ^@ NM_002299.3(LCT):c.3285C>T (p.His1095=) http://identifiers.org/clinvar/298127 ^@ NM_053274.2(GLMN):c.1635G>A (p.Glu545=) http://identifiers.org/clinvar/296805 ^@ NM_001035.2(RYR2):c.*1023G>T http://identifiers.org/clinvar/298142 ^@ NM_053274.2(GLMN):c.542T>C (p.Ile181Thr) http://identifiers.org/clinvar/296809 ^@ NM_001035.2(RYR2):c.*1140A>G http://identifiers.org/clinvar/331191 ^@ NM_002299.3(LCT):c.3006G>A (p.Arg1002=) http://identifiers.org/clinvar/331192 ^@ NM_002299.3(LCT):c.2883C>T (p.Ala961=) http://identifiers.org/clinvar/298147 ^@ NM_053274.2(GLMN):c.271G>A (p.Asp91Asn) http://identifiers.org/clinvar/298152 ^@ NM_053274.2(GLMN):c.-44G>A http://identifiers.org/clinvar/296811 ^@ NM_001035.2(RYR2):c.*1160A>G http://identifiers.org/clinvar/331193 ^@ NM_002299.3(LCT):c.2763G>A (p.Ala921=) http://identifiers.org/clinvar/331201 ^@ NM_002299.3(LCT):c.1461G>A (p.Ala487=) http://identifiers.org/clinvar/331207 ^@ NM_002299.3(LCT):c.655G>A (p.Val219Ile) http://identifiers.org/clinvar/296825 ^@ NM_000403.3(GALE):c.*192T>C http://identifiers.org/clinvar/296834 ^@ NM_000403.3(GALE):c.447C>G (p.Pro149=) http://identifiers.org/clinvar/296944 ^@ NM_004895.4(NLRP3):c.429C>T (p.Tyr143=) http://identifiers.org/clinvar/331208 ^@ NM_002299.3(LCT):c.643G>A (p.Gly215Arg) http://identifiers.org/clinvar/331210 ^@ NM_002299.3(LCT):c.582C>T (p.Thr194=) http://identifiers.org/clinvar/296837 ^@ NM_000403.3(GALE):c.330C>T (p.Thr110=) http://identifiers.org/clinvar/296839 ^@ NM_000403.3(GALE):c.-91C>T http://identifiers.org/clinvar/296848 ^@ NM_000191.2(HMGCL):c.750+14T>A http://identifiers.org/clinvar/298153 ^@ NM_053274.2(GLMN):c.-54T>G http://identifiers.org/clinvar/296948 ^@ NM_004895.4(NLRP3):c.1651T>C (p.Leu551=) http://identifiers.org/clinvar/296949 ^@ NM_004895.4(NLRP3):c.2191C>A (p.Arg731=) http://identifiers.org/clinvar/298158 ^@ NM_005263.3(GFI1):c.*1175G>A http://identifiers.org/clinvar/331217 ^@ NM_000547.5(TPO):c.9G>A (p.Ala3=) http://identifiers.org/clinvar/296953 ^@ NM_004895.4(NLRP3):c.2638A>G (p.Lys880Glu) http://identifiers.org/clinvar/331221 ^@ NM_000547.5(TPO):c.95-4G>A http://identifiers.org/clinvar/331223 ^@ NM_000547.5(TPO):c.404C>A (p.Pro135His) http://identifiers.org/clinvar/296957 ^@ NM_004895.4(NLRP3):c.*324_*327delGTCT http://identifiers.org/clinvar/296960 ^@ NM_004895.4(NLRP3):c.*396T>A http://identifiers.org/clinvar/331225 ^@ NM_014795.3(ZEB2):c.*5002T>C http://identifiers.org/clinvar/296964 ^@ NM_015627.2(LDLRAP1):c.-105G>T http://identifiers.org/clinvar/331226 ^@ NM_014795.3(ZEB2):c.*4942A>G http://identifiers.org/clinvar/296975 ^@ NM_015627.2(LDLRAP1):c.284G>A (p.Arg95Gln) http://identifiers.org/clinvar/296976 ^@ NM_015627.2(LDLRAP1):c.375C>T (p.His125=) http://identifiers.org/clinvar/298165 ^@ NM_005263.3(GFI1):c.*822C>G http://identifiers.org/clinvar/298166 ^@ NM_005263.3(GFI1):c.*803C>T http://identifiers.org/clinvar/296977 ^@ NM_015627.2(LDLRAP1):c.414C>T (p.Asn138=) http://identifiers.org/clinvar/331233 ^@ NM_014795.3(ZEB2):c.*4308G>A http://identifiers.org/clinvar/296979 ^@ NM_015627.2(LDLRAP1):c.451C>T (p.Arg151Trp) http://identifiers.org/clinvar/331234 ^@ NM_014795.3(ZEB2):c.*4305A>G http://identifiers.org/clinvar/331242 ^@ NM_014795.3(ZEB2):c.*3194C>T http://identifiers.org/clinvar/298171 ^@ NM_005263.3(GFI1):c.*407G>A http://identifiers.org/clinvar/296855 ^@ NM_000191.2(HMGCL):c.48G>A (p.Ala16=) http://identifiers.org/clinvar/296980 ^@ NM_015627.2(LDLRAP1):c.480C>T (p.Thr160=) http://identifiers.org/clinvar/296981 ^@ NM_015627.2(LDLRAP1):c.487C>T (p.Gln163Ter) http://identifiers.org/clinvar/296856 ^@ NM_000191.2(HMGCL):c.-41G>C http://identifiers.org/clinvar/331250 ^@ NM_014795.3(ZEB2):c.*2966T>C http://identifiers.org/clinvar/296883 ^@ NM_000147.4(FUCA1):c.*286C>A http://identifiers.org/clinvar/331254 ^@ NM_014795.3(ZEB2):c.*2554T>C http://identifiers.org/clinvar/296884 ^@ NM_000147.4(FUCA1):c.*270T>C http://identifiers.org/clinvar/296262 ^@ NM_153818.1(PEX10):c.*499G>A http://identifiers.org/clinvar/331255 ^@ NM_014795.3(ZEB2):c.*2532G>C http://identifiers.org/clinvar/296263 ^@ NM_153818.1(PEX10):c.*420G>A http://identifiers.org/clinvar/298178 ^@ NM_005263.3(GFI1):c.1032C>T (p.Tyr344=) http://identifiers.org/clinvar/296983 ^@ NM_015627.2(LDLRAP1):c.622G>A (p.Ala208Thr) http://identifiers.org/clinvar/331257 ^@ NM_014795.3(ZEB2):c.*2518G>T http://identifiers.org/clinvar/296986 ^@ NM_015627.2(LDLRAP1):c.712C>T (p.Arg238Trp) http://identifiers.org/clinvar/296990 ^@ NM_015627.2(LDLRAP1):c.*63G>T http://identifiers.org/clinvar/296991 ^@ NM_015627.2(LDLRAP1):c.*253G>A http://identifiers.org/clinvar/331258 ^@ NM_014795.3(ZEB2):c.*2516delG http://identifiers.org/clinvar/331261 ^@ NM_014795.3(ZEB2):c.*2400_*2405dupTATATA http://identifiers.org/clinvar/296267 ^@ NM_153818.1(PEX10):c.*304C>T http://identifiers.org/clinvar/296269 ^@ NM_153818.1(PEX10):c.*91A>G http://identifiers.org/clinvar/298184 ^@ NM_005263.3(GFI1):c.925-8_925-5delCTCT http://identifiers.org/clinvar/331265 ^@ NM_014795.3(ZEB2):c.*2387_*2388dupGT http://identifiers.org/clinvar/296996 ^@ NM_015627.2(LDLRAP1):c.*535C>T http://identifiers.org/clinvar/296272 ^@ NM_153818.1(PEX10):c.1037G>A (p.Arg346His) http://identifiers.org/clinvar/331266 ^@ NM_014795.3(ZEB2):c.*2181T>C http://identifiers.org/clinvar/296284 ^@ NM_153818.1(PEX10):c.-52_-51delTG http://identifiers.org/clinvar/296867 ^@ NM_000143.3(FH):c.1237-18_1237-13dupTCTCTC http://identifiers.org/clinvar/296869 ^@ NM_000143.3(FH):c.1237-22_1237-13dupTCTCTCTCTC http://identifiers.org/clinvar/296876 ^@ NM_000143.3(FH):c.33G>C (p.Ser11=) http://identifiers.org/clinvar/331271 ^@ NM_014795.3(ZEB2):c.*1984delT http://identifiers.org/clinvar/296999 ^@ NM_015627.2(LDLRAP1):c.*804G>A http://identifiers.org/clinvar/331274 ^@ NM_014795.3(ZEB2):c.*1945delA http://identifiers.org/clinvar/297000 ^@ NM_015627.2(LDLRAP1):c.*810C>T http://identifiers.org/clinvar/297006 ^@ NM_015627.2(LDLRAP1):c.*985_*986insTG http://identifiers.org/clinvar/297020 ^@ NM_015627.2(LDLRAP1):c.*1737G>A http://identifiers.org/clinvar/298189 ^@ NM_005263.3(GFI1):c.588C>T (p.Gly196=) http://identifiers.org/clinvar/298190 ^@ NM_005263.3(GFI1):c.311C>T (p.Ser104Leu) http://identifiers.org/clinvar/296877 ^@ NM_000143.3(FH):c.12A>G (p.Ala4=) http://identifiers.org/clinvar/296902 ^@ NM_006642.3(SDCCAG8):c.-98C>T http://identifiers.org/clinvar/296907 ^@ NM_006642.3(SDCCAG8):c.348C>T (p.His116=) http://identifiers.org/clinvar/297025 ^@ NM_020451.2(SELENON):c.878A>G (p.His293Arg) http://identifiers.org/clinvar/297033 ^@ NM_020451.2(SELENON):c.*219_*222delACTG http://identifiers.org/clinvar/297041 ^@ NM_020451.2(SELENON):c.*754G>A http://identifiers.org/clinvar/331275 ^@ NM_014795.3(ZEB2):c.*1918A>C http://identifiers.org/clinvar/298191 ^@ NM_005263.3(GFI1):c.-54G>T http://identifiers.org/clinvar/298192 ^@ NM_005263.3(GFI1):c.-90G>C http://identifiers.org/clinvar/298195 ^@ NM_005263.3(GFI1):c.-209G>A http://identifiers.org/clinvar/297043 ^@ NM_020451.2(SELENON):c.*780C>T http://identifiers.org/clinvar/297051 ^@ NM_020451.2(SELENON):c.*1622G>A http://identifiers.org/clinvar/298197 ^@ NM_000969.3(RPL5):c.-62C>G http://identifiers.org/clinvar/298206 ^@ NM_000969.3(RPL5):c.-6C>T http://identifiers.org/clinvar/296909 ^@ NM_006642.3(SDCCAG8):c.676-4A>G http://identifiers.org/clinvar/298210 ^@ NM_000969.3(RPL5):c.325-11T>G http://identifiers.org/clinvar/331284 ^@ NM_014795.3(ZEB2):c.*1276T>C http://identifiers.org/clinvar/331288 ^@ NM_014795.3(ZEB2):c.*602A>G http://identifiers.org/clinvar/298220 ^@ NM_000350.2(ABCA4):c.*55G>T http://identifiers.org/clinvar/298228 ^@ NM_000350.2(ABCA4):c.5406C>T (p.Ile1802=) http://identifiers.org/clinvar/296910 ^@ NM_006642.3(SDCCAG8):c.798T>C (p.His266=) http://identifiers.org/clinvar/296912 ^@ NM_006642.3(SDCCAG8):c.1356G>A (p.Lys452=) http://identifiers.org/clinvar/331289 ^@ NM_014795.3(ZEB2):c.*560dupT http://identifiers.org/clinvar/331292 ^@ NM_014795.3(ZEB2):c.*514delT http://identifiers.org/clinvar/296913 ^@ NM_006642.3(SDCCAG8):c.1404G>A (p.Lys468=) http://identifiers.org/clinvar/296916 ^@ NM_006642.3(SDCCAG8):c.1973C>T (p.Thr658Met) http://identifiers.org/clinvar/296919 ^@ NM_006642.3(SDCCAG8):c.*149T>C http://identifiers.org/clinvar/296920 ^@ NM_006642.3(SDCCAG8):c.*214_*217dupGTTT http://identifiers.org/clinvar/296926 ^@ NM_004895.4(NLRP3):c.-555T>G http://identifiers.org/clinvar/331291 ^@ NM_014795.3(ZEB2):c.*514dupT http://identifiers.org/clinvar/331302 ^@ NM_014795.3(ZEB2):c.297C>T (p.Asn99=) http://identifiers.org/clinvar/331303 ^@ NM_014795.3(ZEB2):c.-11C>A http://identifiers.org/clinvar/298233 ^@ NM_000350.2(ABCA4):c.4848+13T>C http://identifiers.org/clinvar/297055 ^@ NM_020451.2(SELENON):c.*1782C>T http://identifiers.org/clinvar/298239 ^@ NM_000350.2(ABCA4):c.4256T>C (p.Met1419Thr) http://identifiers.org/clinvar/297056 ^@ NM_020451.2(SELENON):c.*1807T>C http://identifiers.org/clinvar/331305 ^@ NM_014795.3(ZEB2):c.-488T>C http://identifiers.org/clinvar/297073 ^@ NM_024887.3(DHDDS):c.468C>T (p.Tyr156=) http://identifiers.org/clinvar/331308 ^@ NM_000547.5(TPO):c.612G>A (p.Pro204=) http://identifiers.org/clinvar/331317 ^@ NM_000547.5(TPO):c.1317G>A (p.Lys439=) http://identifiers.org/clinvar/296932 ^@ NM_004895.4(NLRP3):c.-225G>A http://identifiers.org/clinvar/298241 ^@ NM_000350.2(ABCA4):c.4194C>T (p.Gly1398=) http://identifiers.org/clinvar/298246 ^@ NM_000350.2(ABCA4):c.3831G>A (p.Thr1277=) http://identifiers.org/clinvar/296938 ^@ NM_004895.4(NLRP3):c.34A>C (p.Arg12=) http://identifiers.org/clinvar/331327 ^@ NM_018328.4(MBD5):c.-296G>A http://identifiers.org/clinvar/331331 ^@ NM_018328.4(MBD5):c.274G>A (p.Ala92Thr) http://identifiers.org/clinvar/298254 ^@ NM_000350.2(ABCA4):c.2744-5C>T http://identifiers.org/clinvar/298255 ^@ NM_000350.2(ABCA4):c.2646C>T (p.Gly882=) http://identifiers.org/clinvar/296939 ^@ NM_004895.4(NLRP3):c.200C>G (p.Ala67Gly) http://identifiers.org/clinvar/296940 ^@ NM_004895.4(NLRP3):c.209T>C (p.Met70Thr) http://identifiers.org/clinvar/297074 ^@ NM_024887.3(DHDDS):c.710T>G (p.Phe237Cys) http://identifiers.org/clinvar/297078 ^@ NM_024887.3(DHDDS):c.920G>A (p.Arg307Gln) http://identifiers.org/clinvar/298268 ^@ NM_000350.2(ABCA4):c.331G>C (p.Glu111Gln) http://identifiers.org/clinvar/298274 ^@ NM_000110.3(DPYD):c.*586C>T http://identifiers.org/clinvar/298281 ^@ NM_000110.3(DPYD):c.2632A>G (p.Ser878Gly) http://identifiers.org/clinvar/298282 ^@ NM_000110.3(DPYD):c.2525G>T (p.Ser842Ile) http://identifiers.org/clinvar/296942 ^@ NM_004895.4(NLRP3):c.403+7G>A http://identifiers.org/clinvar/296945 ^@ NM_004895.4(NLRP3):c.1125G>A (p.Glu375=) http://identifiers.org/clinvar/331336 ^@ NM_018328.4(MBD5):c.2140C>G (p.His714Asp) http://identifiers.org/clinvar/296947 ^@ NM_004895.4(NLRP3):c.1367G>A (p.Gly456Glu) http://identifiers.org/clinvar/296955 ^@ NM_004895.4(NLRP3):c.*177delC http://identifiers.org/clinvar/296958 ^@ NM_004895.4(NLRP3):c.*328_*331delAACT http://identifiers.org/clinvar/331338 ^@ NM_018328.4(MBD5):c.2301C>T (p.Asn767=) http://identifiers.org/clinvar/331319 ^@ NM_000547.5(TPO):c.1566T>A (p.Ala522=) http://identifiers.org/clinvar/296959 ^@ NM_004895.4(NLRP3):c.*351dupT http://identifiers.org/clinvar/296962 ^@ NM_004895.4(NLRP3):c.*604A>C http://identifiers.org/clinvar/331343 ^@ NM_018328.4(MBD5):c.3152C>A (p.Pro1051His) http://identifiers.org/clinvar/298286 ^@ NM_000110.3(DPYD):c.2071G>T (p.Val691Leu) http://identifiers.org/clinvar/331346 ^@ NM_018328.4(MBD5):c.4038T>C (p.Asn1346=) http://identifiers.org/clinvar/298289 ^@ NM_000110.3(DPYD):c.1580C>T (p.Pro527Leu) http://identifiers.org/clinvar/297079 ^@ NM_024887.3(DHDDS):c.993T>C (p.Thr331=) http://identifiers.org/clinvar/298291 ^@ NM_000110.3(DPYD):c.1525-9A>G http://identifiers.org/clinvar/298293 ^@ NM_000110.3(DPYD):c.1475C>T (p.Ser492Leu) http://identifiers.org/clinvar/296970 ^@ NM_015627.2(LDLRAP1):c.-37T>C http://identifiers.org/clinvar/331370 ^@ NM_015702.2(MMADHC):c.*267T>C http://identifiers.org/clinvar/296978 ^@ NM_015627.2(LDLRAP1):c.423C>T (p.Leu141=) http://identifiers.org/clinvar/297085 ^@ NM_024887.3(DHDDS):c.*464T>C http://identifiers.org/clinvar/297093 ^@ NM_024887.3(DHDDS):c.*883C>G http://identifiers.org/clinvar/297095 ^@ NM_024887.3(DHDDS):c.*1184_*1186delCTT http://identifiers.org/clinvar/297007 ^@ NM_015627.2(LDLRAP1):c.*1040A>C http://identifiers.org/clinvar/297009 ^@ NM_015627.2(LDLRAP1):c.*1222T>C http://identifiers.org/clinvar/331372 ^@ NM_015702.2(MMADHC):c.*164A>G http://identifiers.org/clinvar/297011 ^@ NM_015627.2(LDLRAP1):c.*1370G>T http://identifiers.org/clinvar/331373 ^@ NM_015702.2(MMADHC):c.*126A>G http://identifiers.org/clinvar/298300 ^@ NM_000110.3(DPYD):c.703C>T (p.Arg235Trp) http://identifiers.org/clinvar/297015 ^@ NM_015627.2(LDLRAP1):c.*1515C>T http://identifiers.org/clinvar/297023 ^@ NM_020451.2(SELENON):c.427G>A (p.Glu143Lys) http://identifiers.org/clinvar/297100 ^@ NM_024887.3(DHDDS):c.*1431C>T http://identifiers.org/clinvar/297102 ^@ NM_024887.3(DHDDS):c.*1769G>A http://identifiers.org/clinvar/297105 ^@ NM_024887.3(DHDDS):c.*1995C>T http://identifiers.org/clinvar/298301 ^@ NM_000110.3(DPYD):c.474T>C (p.Phe158=) http://identifiers.org/clinvar/297109 ^@ NM_024887.3(DHDDS):c.*2104A>T http://identifiers.org/clinvar/297026 ^@ NM_020451.2(SELENON):c.1082A>G (p.Tyr361Cys) http://identifiers.org/clinvar/331374 ^@ NM_015702.2(MMADHC):c.*89T>C http://identifiers.org/clinvar/297028 ^@ NM_020451.2(SELENON):c.1151_1153delGCA (p.Ser384del) http://identifiers.org/clinvar/331375 ^@ NM_015702.2(MMADHC):c.800A>G (p.His267Arg) http://identifiers.org/clinvar/297035 ^@ NM_020451.2(SELENON):c.*267C>A http://identifiers.org/clinvar/331378 ^@ NM_015702.2(MMADHC):c.478+6T>G http://identifiers.org/clinvar/331387 ^@ NM_015702.2(MMADHC):c.-52-3C>G http://identifiers.org/clinvar/331361 ^@ NM_000547.5(TPO):c.2007-9_2007-7delTCT http://identifiers.org/clinvar/298302 ^@ NM_000110.3(DPYD):c.-108T>C http://identifiers.org/clinvar/291321 ^@ NM_000642.2(AGL):c.-134C>G http://identifiers.org/clinvar/291323 ^@ NM_000642.2(AGL):c.318C>T (p.Tyr106=) http://identifiers.org/clinvar/297110 ^@ NM_017837.3(PIGV):c.-338A>C http://identifiers.org/clinvar/331364 ^@ NM_000547.5(TPO):c.2181G>T (p.Met727Ile) http://identifiers.org/clinvar/331365 ^@ NM_000547.5(TPO):c.2212C>G (p.Gln738Glu) http://identifiers.org/clinvar/297112 ^@ NM_017837.3(PIGV):c.-323C>T http://identifiers.org/clinvar/297117 ^@ NM_017837.3(PIGV):c.531A>T (p.Thr177=) http://identifiers.org/clinvar/297122 ^@ NM_017837.3(PIGV):c.1464C>T (p.Asn488=) http://identifiers.org/clinvar/291326 ^@ NM_000642.2(AGL):c.609A>G (p.Lys203=) http://identifiers.org/clinvar/291330 ^@ NM_000642.2(AGL):c.1065G>A (p.Thr355=) http://identifiers.org/clinvar/297037 ^@ NM_020451.2(SELENON):c.*482delT http://identifiers.org/clinvar/291336 ^@ NM_000642.2(AGL):c.2084A>G (p.Gln695Arg) http://identifiers.org/clinvar/291338 ^@ NM_000642.2(AGL):c.2771A>C (p.Asp924Ala) http://identifiers.org/clinvar/297039 ^@ NM_020451.2(SELENON):c.*686A>G http://identifiers.org/clinvar/297042 ^@ NM_020451.2(SELENON):c.*771G>A http://identifiers.org/clinvar/291341 ^@ NM_000642.2(AGL):c.3345A>T (p.Gly1115=) http://identifiers.org/clinvar/291342 ^@ NM_000642.2(AGL):c.3431T>A (p.Ile1144Asn) http://identifiers.org/clinvar/297047 ^@ NM_020451.2(SELENON):c.*1333G>C http://identifiers.org/clinvar/297049 ^@ NM_020451.2(SELENON):c.*1500G>A http://identifiers.org/clinvar/291343 ^@ NM_000642.2(AGL):c.3584C>G (p.Thr1195Arg) http://identifiers.org/clinvar/297124 ^@ NM_017837.3(PIGV):c.*110T>C http://identifiers.org/clinvar/297125 ^@ NM_017837.3(PIGV):c.*149G>A http://identifiers.org/clinvar/297128 ^@ NM_017837.3(PIGV):c.*367A>G http://identifiers.org/clinvar/331367 ^@ NM_000547.5(TPO):c.2241C>T (p.Ser747=) http://identifiers.org/clinvar/331368 ^@ NM_000547.5(TPO):c.2286C>T (p.Arg762=) http://identifiers.org/clinvar/297048 ^@ NM_020451.2(SELENON):c.*1511_*1515delTTTTG http://identifiers.org/clinvar/297050 ^@ NM_020451.2(SELENON):c.*1612T>C http://identifiers.org/clinvar/297131 ^@ NM_017837.3(PIGV):c.*453A>T http://identifiers.org/clinvar/291358 ^@ NM_000642.2(AGL):c.*680T>A http://identifiers.org/clinvar/331394 ^@ NM_000547.5(TPO):c.2500G>A (p.Asp834Asn) http://identifiers.org/clinvar/331399 ^@ NM_004543.4(NEB):c.*36C>T http://identifiers.org/clinvar/331402 ^@ NM_004543.4(NEB):c.19690T>C (p.Ser6564Pro) http://identifiers.org/clinvar/291360 ^@ NM_000642.2(AGL):c.*739A>G http://identifiers.org/clinvar/297066 ^@ NM_020451.2(SELENON):c.*2465G>A http://identifiers.org/clinvar/297132 ^@ NM_017837.3(PIGV):c.*518dupA http://identifiers.org/clinvar/291361 ^@ NM_000642.2(AGL):c.*794A>G http://identifiers.org/clinvar/331407 ^@ NM_004543.4(NEB):c.19189A>G (p.Ile6397Val) http://identifiers.org/clinvar/331410 ^@ NM_004543.4(NEB):c.18802C>T (p.Arg6268Cys) http://identifiers.org/clinvar/291367 ^@ NM_000642.2(AGL):c.*1256A>C http://identifiers.org/clinvar/297139 ^@ NM_003680.3(YARS):c.*439T>C http://identifiers.org/clinvar/291369 ^@ NM_000642.2(AGL):c.*1541T>C http://identifiers.org/clinvar/331411 ^@ NM_004543.4(NEB):c.18046G>C (p.Glu6016Gln) http://identifiers.org/clinvar/331412 ^@ NM_004543.4(NEB):c.18024+4G>A http://identifiers.org/clinvar/291372 ^@ NM_000642.2(AGL):c.*2160C>T http://identifiers.org/clinvar/331418 ^@ NM_004543.4(NEB):c.17336A>C (p.Asp5779Ala) http://identifiers.org/clinvar/297141 ^@ NM_003680.3(YARS):c.*386G>T http://identifiers.org/clinvar/331419 ^@ NM_004543.4(NEB):c.17170-5T>C http://identifiers.org/clinvar/297067 ^@ NM_020451.2(SELENON):c.*2475T>C http://identifiers.org/clinvar/330621 ^@ NM_003597.4(KLF11):c.18C>T (p.Phe6=) http://identifiers.org/clinvar/330622 ^@ NM_003597.4(KLF11):c.86G>A (p.Arg29Gln) http://identifiers.org/clinvar/297146 ^@ NM_003680.3(YARS):c.*138G>A http://identifiers.org/clinvar/297151 ^@ NM_003680.3(YARS):c.1218G>C (p.Leu406=) http://identifiers.org/clinvar/331421 ^@ NM_004543.4(NEB):c.17084A>G (p.Lys5695Arg) http://identifiers.org/clinvar/330623 ^@ NM_003597.4(KLF11):c.259A>G (p.Met87Val) http://identifiers.org/clinvar/331428 ^@ NM_004543.4(NEB):c.15803A>T (p.Glu5268Val) http://identifiers.org/clinvar/330626 ^@ NM_003597.4(KLF11):c.358A>G (p.Arg120Gly) http://identifiers.org/clinvar/330627 ^@ NM_003597.4(KLF11):c.429C>T (p.Ala143=) http://identifiers.org/clinvar/330628 ^@ NM_003597.4(KLF11):c.486A>G (p.Pro162=) http://identifiers.org/clinvar/331430 ^@ NM_004543.4(NEB):c.15475-6G>A http://identifiers.org/clinvar/330633 ^@ NM_003597.4(KLF11):c.994C>T (p.Pro332Ser) http://identifiers.org/clinvar/331436 ^@ NM_004543.4(NEB):c.15109G>A (p.Asp5037Asn) http://identifiers.org/clinvar/330635 ^@ NM_003597.4(KLF11):c.1057C>A (p.Pro353Thr) http://identifiers.org/clinvar/330642 ^@ NM_003597.4(KLF11):c.*107G>A http://identifiers.org/clinvar/330651 ^@ NM_003597.4(KLF11):c.*235T>C http://identifiers.org/clinvar/297069 ^@ NM_024887.3(DHDDS):c.-143C>T http://identifiers.org/clinvar/330655 ^@ NM_003597.4(KLF11):c.*612C>T http://identifiers.org/clinvar/330656 ^@ NM_003597.4(KLF11):c.*674G>C http://identifiers.org/clinvar/331438 ^@ NM_004543.4(NEB):c.14929C>T (p.Arg4977Cys) http://identifiers.org/clinvar/297153 ^@ NM_003680.3(YARS):c.982T>C (p.Phe328Leu) http://identifiers.org/clinvar/331439 ^@ NM_004543.4(NEB):c.14816T>G (p.Leu4939Arg) http://identifiers.org/clinvar/297154 ^@ NM_003680.3(YARS):c.946G>A (p.Ala316Thr) http://identifiers.org/clinvar/297072 ^@ NM_024887.3(DHDDS):c.157C>G (p.Gln53Glu) http://identifiers.org/clinvar/297076 ^@ NM_024887.3(DHDDS):c.778G>A (p.Asp260Asn) http://identifiers.org/clinvar/297158 ^@ NM_003680.3(YARS):c.511-14G>A http://identifiers.org/clinvar/331440 ^@ NM_004543.4(NEB):c.14791A>G (p.Lys4931Glu) http://identifiers.org/clinvar/297080 ^@ NM_024887.3(DHDDS):c.*55C>T http://identifiers.org/clinvar/331442 ^@ NM_004543.4(NEB):c.14648T>G (p.Met4883Arg) http://identifiers.org/clinvar/330658 ^@ NM_003597.4(KLF11):c.*882G>A http://identifiers.org/clinvar/330663 ^@ NM_003597.4(KLF11):c.*1155G>A http://identifiers.org/clinvar/330665 ^@ NM_003597.4(KLF11):c.*1301C>G http://identifiers.org/clinvar/330673 ^@ NM_003597.4(KLF11):c.*1781T>C http://identifiers.org/clinvar/330675 ^@ NM_003597.4(KLF11):c.*1894A>G http://identifiers.org/clinvar/297160 ^@ NM_003680.3(YARS):c.414C>T (p.Ser138=) http://identifiers.org/clinvar/331444 ^@ NM_004543.4(NEB):c.14596C>A (p.His4866Asn) http://identifiers.org/clinvar/330676 ^@ NM_003597.4(KLF11):c.*2026G>C http://identifiers.org/clinvar/330677 ^@ NM_003597.4(KLF11):c.*2081C>T http://identifiers.org/clinvar/330679 ^@ NM_003597.4(KLF11):c.*2265T>A http://identifiers.org/clinvar/331447 ^@ NM_004543.4(NEB):c.14490T>C (p.Asp4830=) http://identifiers.org/clinvar/331451 ^@ NM_004543.4(NEB):c.14034C>T (p.Asp4678=) http://identifiers.org/clinvar/331455 ^@ NM_004543.4(NEB):c.13476+11C>T http://identifiers.org/clinvar/330695 ^@ NM_022336.3(EDAR):c.*1107C>T http://identifiers.org/clinvar/330697 ^@ NM_022336.3(EDAR):c.*935C>T http://identifiers.org/clinvar/330702 ^@ NM_022336.3(EDAR):c.*499C>T http://identifiers.org/clinvar/297083 ^@ NM_024887.3(DHDDS):c.*264delG http://identifiers.org/clinvar/331456 ^@ NM_004543.4(NEB):c.13385C>T (p.Ala4462Val) http://identifiers.org/clinvar/330703 ^@ NM_022336.3(EDAR):c.*328G>A http://identifiers.org/clinvar/331457 ^@ NM_004543.4(NEB):c.13328A>G (p.His4443Arg) http://identifiers.org/clinvar/330710 ^@ NM_022336.3(EDAR):c.186C>T (p.Tyr62=) http://identifiers.org/clinvar/331460 ^@ NM_004543.4(NEB):c.12961A>G (p.Ile4321Val) http://identifiers.org/clinvar/297096 ^@ NM_024887.3(DHDDS):c.*1179_*1180dupTT http://identifiers.org/clinvar/331462 ^@ NM_004543.4(NEB):c.12794C>T (p.Pro4265Leu) http://identifiers.org/clinvar/297164 ^@ NM_003680.3(YARS):c.-110G>A http://identifiers.org/clinvar/297170 ^@ NM_003680.3(YARS):c.-442C>T http://identifiers.org/clinvar/297172 ^@ NM_003680.3(YARS):c.-539G>T http://identifiers.org/clinvar/297097 ^@ NM_024887.3(DHDDS):c.*1182_*1183dupTT http://identifiers.org/clinvar/331476 ^@ NM_004543.4(NEB):c.10347+12A>G http://identifiers.org/clinvar/297176 ^@ NM_003680.3(YARS):c.-738C>G http://identifiers.org/clinvar/331478 ^@ NM_004543.4(NEB):c.10296G>A (p.Thr3432=) http://identifiers.org/clinvar/297180 ^@ NM_024009.2(GJB3):c.-399G>A http://identifiers.org/clinvar/297190 ^@ NM_024009.2(GJB3):c.165C>T (p.Thr55=) http://identifiers.org/clinvar/331484 ^@ NM_004543.4(NEB):c.8796C>A (p.Ile2932=) http://identifiers.org/clinvar/331490 ^@ NM_004543.4(NEB):c.7645-14T>C http://identifiers.org/clinvar/297101 ^@ NM_024887.3(DHDDS):c.*1705G>A http://identifiers.org/clinvar/297106 ^@ NM_024887.3(DHDDS):c.*2032C>T http://identifiers.org/clinvar/297107 ^@ NM_024887.3(DHDDS):c.*2045T>A http://identifiers.org/clinvar/331504 ^@ NM_004543.4(NEB):c.5623A>G (p.Met1875Val) http://identifiers.org/clinvar/297113 ^@ NM_017837.3(PIGV):c.-57-6G>A http://identifiers.org/clinvar/331513 ^@ NM_004543.4(NEB):c.3986A>C (p.Asp1329Ala) http://identifiers.org/clinvar/331518 ^@ NM_004543.4(NEB):c.3444G>A (p.Ala1148=) http://identifiers.org/clinvar/297191 ^@ NM_024009.2(GJB3):c.223C>T (p.Arg75Cys) http://identifiers.org/clinvar/331519 ^@ NM_004543.4(NEB):c.3443C>T (p.Ala1148Val) http://identifiers.org/clinvar/297197 ^@ NM_024009.2(GJB3):c.*75delT http://identifiers.org/clinvar/297204 ^@ NM_024009.2(GJB3):c.*369G>C http://identifiers.org/clinvar/297205 ^@ NM_024009.2(GJB3):c.*429G>A http://identifiers.org/clinvar/297115 ^@ NM_017837.3(PIGV):c.348G>A (p.Leu116=) http://identifiers.org/clinvar/331520 ^@ NM_004543.4(NEB):c.3416C>T (p.Thr1139Met) http://identifiers.org/clinvar/297206 ^@ NM_024009.2(GJB3):c.*434G>A http://identifiers.org/clinvar/330713 ^@ NM_022336.3(EDAR):c.-4G>A http://identifiers.org/clinvar/331529 ^@ NM_004543.4(NEB):c.2155C>T (p.Pro719Ser) http://identifiers.org/clinvar/330716 ^@ NM_022336.3(EDAR):c.-189T>C http://identifiers.org/clinvar/331532 ^@ NM_004543.4(NEB):c.1899A>T (p.Arg633Ser) http://identifiers.org/clinvar/297116 ^@ NM_017837.3(PIGV):c.349A>G (p.Ile117Val) http://identifiers.org/clinvar/297208 ^@ NM_024009.2(GJB3):c.*532delG http://identifiers.org/clinvar/297126 ^@ NM_017837.3(PIGV):c.*186G>T http://identifiers.org/clinvar/297134 ^@ NM_003680.3(YARS):c.*681T>G http://identifiers.org/clinvar/297136 ^@ NM_003680.3(YARS):c.*599A>C http://identifiers.org/clinvar/297137 ^@ NM_003680.3(YARS):c.*539A>G http://identifiers.org/clinvar/297138 ^@ NM_003680.3(YARS):c.*447_*451delAAAGG http://identifiers.org/clinvar/297209 ^@ NM_024009.2(GJB3):c.*541G>A http://identifiers.org/clinvar/331541 ^@ NM_004543.4(NEB):c.475C>T (p.His159Tyr) http://identifiers.org/clinvar/297142 ^@ NM_003680.3(YARS):c.*369G>A http://identifiers.org/clinvar/331543 ^@ NM_004543.4(NEB):c.47A>T (p.Glu16Val) http://identifiers.org/clinvar/297145 ^@ NM_003680.3(YARS):c.*284A>G http://identifiers.org/clinvar/297148 ^@ NM_003680.3(YARS):c.1507G>A (p.Ala503Thr) http://identifiers.org/clinvar/330717 ^@ NM_022336.3(EDAR):c.-226T>C http://identifiers.org/clinvar/331546 ^@ NM_004543.4(NEB):c.-167G>T http://identifiers.org/clinvar/297210 ^@ NM_024009.2(GJB3):c.*559G>C http://identifiers.org/clinvar/331551 ^@ NM_000726.4(CACNB4):c.*5863T>G http://identifiers.org/clinvar/331555 ^@ NM_000726.4(CACNB4):c.*5487T>C http://identifiers.org/clinvar/331556 ^@ NM_000726.4(CACNB4):c.*5433A>G http://identifiers.org/clinvar/297213 ^@ NM_000310.3(PPT1):c.*1295G>C http://identifiers.org/clinvar/297215 ^@ NM_000310.3(PPT1):c.*1275G>A http://identifiers.org/clinvar/297216 ^@ NM_000310.3(PPT1):c.*1154T>C http://identifiers.org/clinvar/297149 ^@ NM_003680.3(YARS):c.1374G>A (p.Pro458=) http://identifiers.org/clinvar/297223 ^@ NM_000310.3(PPT1):c.*878T>C http://identifiers.org/clinvar/331558 ^@ NM_000726.4(CACNB4):c.*5385C>T http://identifiers.org/clinvar/331561 ^@ NM_000726.4(CACNB4):c.*5029T>C http://identifiers.org/clinvar/297225 ^@ NM_000310.3(PPT1):c.*811A>G http://identifiers.org/clinvar/297228 ^@ NM_000310.3(PPT1):c.*709T>C http://identifiers.org/clinvar/330720 ^@ NM_022336.3(EDAR):c.-348G>A http://identifiers.org/clinvar/331567 ^@ NM_000726.4(CACNB4):c.*4773A>G http://identifiers.org/clinvar/330721 ^@ NM_022336.3(EDAR):c.-370C>T http://identifiers.org/clinvar/297150 ^@ NM_003680.3(YARS):c.1275C>T (p.Asn425=) http://identifiers.org/clinvar/297152 ^@ NM_003680.3(YARS):c.1141-9C>G http://identifiers.org/clinvar/297244 ^@ NM_000310.3(PPT1):c.705T>C (p.Ile235=) http://identifiers.org/clinvar/297245 ^@ NM_000310.3(PPT1):c.676G>A (p.Val226Met) http://identifiers.org/clinvar/297248 ^@ NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) http://identifiers.org/clinvar/297252 ^@ NM_000310.3(PPT1):c.-158C>T http://identifiers.org/clinvar/330722 ^@ NM_022336.3(EDAR):c.-394T>C http://identifiers.org/clinvar/297155 ^@ NM_003680.3(YARS):c.874T>G (p.Tyr292Asp) http://identifiers.org/clinvar/331573 ^@ NM_000726.4(CACNB4):c.*4081G>A http://identifiers.org/clinvar/297156 ^@ NM_003680.3(YARS):c.685-11A>G http://identifiers.org/clinvar/330731 ^@ NM_000272.3(NPHP1):c.1447G>C (p.Glu483Gln) http://identifiers.org/clinvar/331575 ^@ NM_000726.4(CACNB4):c.*3688G>A http://identifiers.org/clinvar/330735 ^@ NM_000272.3(NPHP1):c.860A>G (p.Asn287Ser) http://identifiers.org/clinvar/330738 ^@ NM_000272.3(NPHP1):c.456A>G (p.Ser152=) http://identifiers.org/clinvar/330741 ^@ NM_006343.2(MERTK):c.102A>G (p.Leu34=) http://identifiers.org/clinvar/330744 ^@ NM_006343.2(MERTK):c.709C>T (p.Arg237Cys) http://identifiers.org/clinvar/330745 ^@ NM_006343.2(MERTK):c.756A>G (p.Pro252=) http://identifiers.org/clinvar/297253 ^@ NM_005857.4(ZMPSTE24):c.-185C>G http://identifiers.org/clinvar/297256 ^@ NM_005857.4(ZMPSTE24):c.-55C>G http://identifiers.org/clinvar/297263 ^@ NM_005857.4(ZMPSTE24):c.951_954+2delTAAAGT http://identifiers.org/clinvar/297265 ^@ NM_005857.4(ZMPSTE24):c.1106G>A (p.Arg369Gln) http://identifiers.org/clinvar/331586 ^@ NM_000726.4(CACNB4):c.*2542G>A http://identifiers.org/clinvar/297275 ^@ NM_005857.4(ZMPSTE24):c.*1140T>C http://identifiers.org/clinvar/297157 ^@ NM_003680.3(YARS):c.684+3A>G http://identifiers.org/clinvar/297159 ^@ NM_003680.3(YARS):c.415G>A (p.Val139Met) http://identifiers.org/clinvar/297281 ^@ NM_001852.3(COL9A2):c.*443C>T http://identifiers.org/clinvar/297162 ^@ NM_003680.3(YARS):c.60G>A (p.Glu20=) http://identifiers.org/clinvar/297169 ^@ NM_003680.3(YARS):c.-437G>A http://identifiers.org/clinvar/297285 ^@ NM_001852.3(COL9A2):c.*312T>A http://identifiers.org/clinvar/297289 ^@ NM_001852.3(COL9A2):c.*67A>G http://identifiers.org/clinvar/330752 ^@ NM_006343.2(MERTK):c.1261C>T (p.Arg421Trp) http://identifiers.org/clinvar/297291 ^@ NM_001852.3(COL9A2):c.1834G>A (p.Gly612Arg) http://identifiers.org/clinvar/331588 ^@ NM_000726.4(CACNB4):c.*2210A>G http://identifiers.org/clinvar/330756 ^@ NM_006343.2(MERTK):c.1436T>A (p.Phe479Tyr) http://identifiers.org/clinvar/330758 ^@ NM_006343.2(MERTK):c.1494C>T (p.Asn498=) http://identifiers.org/clinvar/330759 ^@ NM_006343.2(MERTK):c.1552A>G (p.Ile518Val) http://identifiers.org/clinvar/330760 ^@ NM_006343.2(MERTK):c.1669C>T (p.Arg557Trp) http://identifiers.org/clinvar/330766 ^@ NM_006343.2(MERTK):c.2080-11C>A http://identifiers.org/clinvar/330776 ^@ NM_012275.2(IL36RN):c.-156G>C http://identifiers.org/clinvar/330779 ^@ NM_012275.2(IL36RN):c.248T>A (p.Val83Glu) http://identifiers.org/clinvar/297171 ^@ NM_003680.3(YARS):c.-464C>T http://identifiers.org/clinvar/330786 ^@ NM_012275.2(IL36RN):c.*308T>G http://identifiers.org/clinvar/330789 ^@ NM_012275.2(IL36RN):c.*401A>T http://identifiers.org/clinvar/330791 ^@ NM_012275.2(IL36RN):c.*478T>C http://identifiers.org/clinvar/297295 ^@ NM_001852.3(COL9A2):c.1599G>T (p.Leu533=) http://identifiers.org/clinvar/331591 ^@ NM_000726.4(CACNB4):c.*2163G>A http://identifiers.org/clinvar/331594 ^@ NM_000726.4(CACNB4):c.*1937T>G http://identifiers.org/clinvar/331600 ^@ NM_000726.4(CACNB4):c.*1811C>A http://identifiers.org/clinvar/331604 ^@ NM_000726.4(CACNB4):c.*1520delT http://identifiers.org/clinvar/297173 ^@ NM_003680.3(YARS):c.-620A>C http://identifiers.org/clinvar/297178 ^@ NM_024009.2(GJB3):c.-606T>C http://identifiers.org/clinvar/297179 ^@ NM_024009.2(GJB3):c.-407C>T http://identifiers.org/clinvar/330797 ^@ NM_012275.2(IL36RN):c.*935G>C http://identifiers.org/clinvar/330799 ^@ NM_012275.2(IL36RN):c.*1051T>C http://identifiers.org/clinvar/297183 ^@ NM_024009.2(GJB3):c.-307T>C http://identifiers.org/clinvar/330800 ^@ NM_012275.2(IL36RN):c.*1082C>A http://identifiers.org/clinvar/331605 ^@ NM_000726.4(CACNB4):c.*1501dupA http://identifiers.org/clinvar/330801 ^@ NM_012275.2(IL36RN):c.*1258C>A http://identifiers.org/clinvar/331608 ^@ NM_000726.4(CACNB4):c.*1284T>G http://identifiers.org/clinvar/297186 ^@ NM_024009.2(GJB3):c.-159T>C http://identifiers.org/clinvar/297187 ^@ NM_024009.2(GJB3):c.-141C>G http://identifiers.org/clinvar/297188 ^@ NM_024009.2(GJB3):c.-93C>T http://identifiers.org/clinvar/297309 ^@ NM_001852.3(COL9A2):c.370C>G (p.Pro124Ala) http://identifiers.org/clinvar/297311 ^@ NM_001852.3(COL9A2):c.250-7T>C http://identifiers.org/clinvar/297315 ^@ NM_148960.2(CLDN19):c.*1760C>T http://identifiers.org/clinvar/297316 ^@ NM_148960.2(CLDN19):c.*1733G>A http://identifiers.org/clinvar/297327 ^@ NM_148960.2(CLDN19):c.*845C>G http://identifiers.org/clinvar/297338 ^@ NM_148960.2(CLDN19):c.*19G>A http://identifiers.org/clinvar/331616 ^@ NM_000726.4(CACNB4):c.*795T>G http://identifiers.org/clinvar/297189 ^@ NM_024009.2(GJB3):c.-18C>T http://identifiers.org/clinvar/331620 ^@ NM_000726.4(CACNB4):c.*624A>T http://identifiers.org/clinvar/297340 ^@ NM_148960.2(CLDN19):c.599G>A (p.Arg200Gln) http://identifiers.org/clinvar/330815 ^@ NM_012275.2(IL36RN):c.*1987G>A http://identifiers.org/clinvar/330821 ^@ NM_173841.2(IL1RN):c.-12G>C http://identifiers.org/clinvar/331619 ^@ NM_000726.4(CACNB4):c.*624delA http://identifiers.org/clinvar/331626 ^@ NM_000726.4(CACNB4):c.*443A>G http://identifiers.org/clinvar/331644 ^@ NM_000547.5(TPO):c.*81C>G http://identifiers.org/clinvar/330824 ^@ NM_173841.2(IL1RN):c.125+5G>A http://identifiers.org/clinvar/330825 ^@ NM_173841.2(IL1RN):c.180T>C (p.Ala60=) http://identifiers.org/clinvar/330828 ^@ NM_173841.2(IL1RN):c.468C>T (p.Asp156=) http://identifiers.org/clinvar/297192 ^@ NM_024009.2(GJB3):c.264G>A (p.Ser88=) http://identifiers.org/clinvar/331648 ^@ NM_006186.3(NR4A2):c.*1311A>G http://identifiers.org/clinvar/297195 ^@ NM_024009.2(GJB3):c.*43C>A http://identifiers.org/clinvar/330829 ^@ NM_173841.2(IL1RN):c.538G>A (p.Glu180Lys) http://identifiers.org/clinvar/331651 ^@ NM_006186.3(NR4A2):c.*822A>C http://identifiers.org/clinvar/330849 ^@ NM_173841.2(IL1RN):c.*1145A>G http://identifiers.org/clinvar/330850 ^@ NM_003466.3(PAX8):c.*2527A>G http://identifiers.org/clinvar/330851 ^@ NM_003466.3(PAX8):c.*2517C>T http://identifiers.org/clinvar/330860 ^@ NM_003466.3(PAX8):c.*2192C>T http://identifiers.org/clinvar/330862 ^@ NM_003466.3(PAX8):c.*2033C>T http://identifiers.org/clinvar/297347 ^@ NM_148960.2(CLDN19):c.39G>T (p.Leu13Phe) http://identifiers.org/clinvar/297366 ^@ NM_006516.2(SLC2A1):c.*750T>A http://identifiers.org/clinvar/330864 ^@ NM_003466.3(PAX8):c.*1914C>G http://identifiers.org/clinvar/330870 ^@ NM_003466.3(PAX8):c.*1006A>C http://identifiers.org/clinvar/297198 ^@ NM_024009.2(GJB3):c.*80G>C http://identifiers.org/clinvar/331652 ^@ NM_006186.3(NR4A2):c.*659_*661delTAA http://identifiers.org/clinvar/331654 ^@ NM_006186.3(NR4A2):c.*352C>A http://identifiers.org/clinvar/297367 ^@ NM_006516.2(SLC2A1):c.*651G>T http://identifiers.org/clinvar/331657 ^@ NM_006186.3(NR4A2):c.1746G>A (p.Val582=) http://identifiers.org/clinvar/331659 ^@ NM_006186.3(NR4A2):c.1635G>T (p.Gly545=) http://identifiers.org/clinvar/331663 ^@ NM_006186.3(NR4A2):c.585C>T (p.Asp195=) http://identifiers.org/clinvar/331665 ^@ NM_006186.3(NR4A2):c.-166C>G http://identifiers.org/clinvar/297199 ^@ NM_024009.2(GJB3):c.*120C>T http://identifiers.org/clinvar/297200 ^@ NM_024009.2(GJB3):c.*191C>T http://identifiers.org/clinvar/297201 ^@ NM_024009.2(GJB3):c.*218C>A http://identifiers.org/clinvar/331669 ^@ NM_006186.3(NR4A2):c.-325C>G http://identifiers.org/clinvar/331673 ^@ NM_001105.4(ACVR1):c.*791A>T http://identifiers.org/clinvar/330874 ^@ NM_003466.3(PAX8):c.*789G>A http://identifiers.org/clinvar/330878 ^@ NM_003466.3(PAX8):c.*627T>A http://identifiers.org/clinvar/330884 ^@ NM_003466.3(PAX8):c.1267A>G (p.Ser423Gly) http://identifiers.org/clinvar/297202 ^@ NM_024009.2(GJB3):c.*231G>A http://identifiers.org/clinvar/330889 ^@ NM_003466.3(PAX8):c.898+12G>A http://identifiers.org/clinvar/330890 ^@ NM_003466.3(PAX8):c.885C>T (p.Tyr295=) http://identifiers.org/clinvar/330892 ^@ NM_003466.3(PAX8):c.501C>A (p.Pro167=) http://identifiers.org/clinvar/297372 ^@ NM_006516.2(SLC2A1):c.*560T>C http://identifiers.org/clinvar/330894 ^@ NM_003466.3(PAX8):c.297C>T (p.Asn99=) http://identifiers.org/clinvar/331674 ^@ NM_001105.4(ACVR1):c.*762A>G http://identifiers.org/clinvar/331683 ^@ NM_001105.4(ACVR1):c.*183G>A http://identifiers.org/clinvar/330898 ^@ NM_145693.3(LPIN1):c.-69G>A http://identifiers.org/clinvar/330899 ^@ NM_145693.3(LPIN1):c.-26A>G http://identifiers.org/clinvar/330900 ^@ NM_145693.3(LPIN1):c.-11C>T http://identifiers.org/clinvar/330903 ^@ NM_145693.3(LPIN1):c.119A>G (p.Asn40Ser) http://identifiers.org/clinvar/331684 ^@ NM_001105.4(ACVR1):c.*152G>A http://identifiers.org/clinvar/331685 ^@ NM_001105.4(ACVR1):c.*138G>A http://identifiers.org/clinvar/330919 ^@ NM_145693.3(LPIN1):c.1816G>A (p.Ala606Thr) http://identifiers.org/clinvar/330921 ^@ NM_145693.3(LPIN1):c.2553G>A (p.Pro851=) http://identifiers.org/clinvar/330922 ^@ NM_145693.3(LPIN1):c.*99C>T http://identifiers.org/clinvar/343980 ^@ NM_020800.2(IFT80):c.462G>A (p.Ala154=) http://identifiers.org/clinvar/343983 ^@ NM_020800.2(IFT80):c.44A>G (p.Glu15Gly) http://identifiers.org/clinvar/343990 ^@ NM_020800.2(IFT80):c.-321A>G http://identifiers.org/clinvar/343676 ^@ NM_031850.3(AGTR1):c.1113G>A (p.Thr371=) http://identifiers.org/clinvar/343681 ^@ NM_031850.3(AGTR1):c.*335A>T http://identifiers.org/clinvar/343683 ^@ NM_031850.3(AGTR1):c.*437G>T http://identifiers.org/clinvar/343687 ^@ NM_032383.4(HPS3):c.-108C>T http://identifiers.org/clinvar/343689 ^@ NM_032383.4(HPS3):c.-43C>A http://identifiers.org/clinvar/348463 ^@ NM_133330.2(NSD2):c.*661G>A http://identifiers.org/clinvar/348466 ^@ NM_133330.2(NSD2):c.*745T>C http://identifiers.org/clinvar/346958 ^@ NM_000097.5(CPOX):c.*578_*579insTTCTTA http://identifiers.org/clinvar/346959 ^@ NM_000097.5(CPOX):c.*506C>T http://identifiers.org/clinvar/346964 ^@ NM_000097.5(CPOX):c.*329G>C http://identifiers.org/clinvar/343691 ^@ NM_032383.4(HPS3):c.196C>T (p.Arg66Cys) http://identifiers.org/clinvar/343698 ^@ NM_032383.4(HPS3):c.884+21_884+25dupTTTTT http://identifiers.org/clinvar/348468 ^@ NM_133330.2(NSD2):c.*969G>A http://identifiers.org/clinvar/343696 ^@ NM_032383.4(HPS3):c.884+24_884+25dupTT http://identifiers.org/clinvar/348469 ^@ NM_133330.2(NSD2):c.*986G>A http://identifiers.org/clinvar/343700 ^@ NM_032383.4(HPS3):c.1136C>T (p.Thr379Met) http://identifiers.org/clinvar/348470 ^@ NM_133330.2(NSD2):c.*1025C>A http://identifiers.org/clinvar/348471 ^@ NM_133330.2(NSD2):c.*1085A>T http://identifiers.org/clinvar/343991 ^@ NM_020800.2(IFT80):c.-376G>C http://identifiers.org/clinvar/348472 ^@ NM_133330.2(NSD2):c.*1138G>C http://identifiers.org/clinvar/343994 ^@ NM_001041.3(SI):c.*426G>A http://identifiers.org/clinvar/344005 ^@ NM_001041.3(SI):c.4842-4C>T http://identifiers.org/clinvar/344007 ^@ NM_001041.3(SI):c.4793A>T (p.His1598Leu) http://identifiers.org/clinvar/346968 ^@ NM_000097.5(CPOX):c.*136G>C http://identifiers.org/clinvar/348478 ^@ NM_133330.2(NSD2):c.*1665C>T http://identifiers.org/clinvar/348479 ^@ NM_133330.2(NSD2):c.*1686C>T http://identifiers.org/clinvar/346974 ^@ NM_000097.5(CPOX):c.1172+14A>G http://identifiers.org/clinvar/346978 ^@ NM_000097.5(CPOX):c.880G>A (p.Val294Ile) http://identifiers.org/clinvar/346987 ^@ NM_000097.5(CPOX):c.299A>T (p.Glu100Val) http://identifiers.org/clinvar/344019 ^@ NM_001041.3(SI):c.4062+11C>T http://identifiers.org/clinvar/346988 ^@ NM_000097.5(CPOX):c.284A>G (p.His95Arg) http://identifiers.org/clinvar/348483 ^@ NM_133330.2(NSD2):c.*1849C>T http://identifiers.org/clinvar/348484 ^@ NM_133330.2(NSD2):c.*1850G>A http://identifiers.org/clinvar/346989 ^@ NM_000097.5(CPOX):c.252G>A (p.Gly84=) http://identifiers.org/clinvar/346999 ^@ NM_000097.5(CPOX):c.-54C>T http://identifiers.org/clinvar/350223 ^@ NM_000203.4(IDUA):c.663C>G (p.Pro221=) http://identifiers.org/clinvar/343705 ^@ NM_032383.4(HPS3):c.1366A>G (p.Ile456Val) http://identifiers.org/clinvar/348491 ^@ NM_133330.2(NSD2):c.*2094C>T http://identifiers.org/clinvar/343706 ^@ NM_032383.4(HPS3):c.1379_1381delGAC (p.Arg460_Gln461delinsLys) http://identifiers.org/clinvar/347002 ^@ NM_020041.2(SLC2A9):c.249+11G>T http://identifiers.org/clinvar/343707 ^@ NM_032383.4(HPS3):c.1711C>T (p.His571Tyr) http://identifiers.org/clinvar/343708 ^@ NM_032383.4(HPS3):c.1768C>T (p.Arg590Cys) http://identifiers.org/clinvar/344028 ^@ NM_001041.3(SI):c.3424-12T>C http://identifiers.org/clinvar/344033 ^@ NM_001041.3(SI):c.3055C>T (p.Arg1019Cys) http://identifiers.org/clinvar/343711 ^@ NM_032383.4(HPS3):c.2224G>A (p.Val742Met) http://identifiers.org/clinvar/350224 ^@ NM_000203.4(IDUA):c.793-10C>G http://identifiers.org/clinvar/350226 ^@ NM_000203.4(IDUA):c.814A>C (p.Ile272Leu) http://identifiers.org/clinvar/350228 ^@ NM_000203.4(IDUA):c.1031C>G (p.Ala344Gly) http://identifiers.org/clinvar/350232 ^@ NM_000203.4(IDUA):c.1728-9C>T http://identifiers.org/clinvar/347066 ^@ NM_005908.3(MANBA):c.*437A>T http://identifiers.org/clinvar/347068 ^@ NM_005908.3(MANBA):c.*384C>T http://identifiers.org/clinvar/343716 ^@ NM_032383.4(HPS3):c.*96T>A http://identifiers.org/clinvar/348494 ^@ NM_133330.2(NSD2):c.*2355G>A http://identifiers.org/clinvar/348496 ^@ NM_133330.2(NSD2):c.*2423G>A http://identifiers.org/clinvar/347070 ^@ NM_005908.3(MANBA):c.*317A>G http://identifiers.org/clinvar/347071 ^@ NM_005908.3(MANBA):c.*314A>G http://identifiers.org/clinvar/347075 ^@ NM_005908.3(MANBA):c.*124T>C http://identifiers.org/clinvar/343723 ^@ NM_032383.4(HPS3):c.*97_*98insTCACAC http://identifiers.org/clinvar/343725 ^@ NM_032383.4(HPS3):c.*97_*98insTCACACACAC http://identifiers.org/clinvar/348499 ^@ NM_133330.2(NSD2):c.*2634C>T http://identifiers.org/clinvar/343726 ^@ NM_032383.4(HPS3):c.*97_*98insTCTC http://identifiers.org/clinvar/344035 ^@ NM_001041.3(SI):c.2892G>A (p.Thr964=) http://identifiers.org/clinvar/343722 ^@ NM_032383.4(HPS3):c.*123_*134dupCACACACACACA http://identifiers.org/clinvar/343728 ^@ NM_032383.4(HPS3):c.*131_*134delCACA http://identifiers.org/clinvar/343737 ^@ NG_011800.2:g.54413T>A http://identifiers.org/clinvar/343738 ^@ NM_000096.3(CP):c.*912C>G http://identifiers.org/clinvar/343742 ^@ NG_011800.2:g.54101G>A http://identifiers.org/clinvar/348506 ^@ NM_133330.2(NSD2):c.*2920A>G http://identifiers.org/clinvar/348507 ^@ NM_133330.2(NSD2):c.*2942_*2945delTGTT http://identifiers.org/clinvar/343747 ^@ NG_011800.2:g.53705C>G http://identifiers.org/clinvar/348510 ^@ NM_133330.2(NSD2):c.*3208A>G http://identifiers.org/clinvar/347081 ^@ NM_005908.3(MANBA):c.2351C>G (p.Pro784Arg) http://identifiers.org/clinvar/347082 ^@ NM_005908.3(MANBA):c.2311G>T (p.Val771Phe) http://identifiers.org/clinvar/347084 ^@ NM_005908.3(MANBA):c.2246T>A (p.Leu749His) http://identifiers.org/clinvar/344041 ^@ NM_001041.3(SI):c.2737-12_2737-11dupTT http://identifiers.org/clinvar/347085 ^@ NM_005908.3(MANBA):c.2212C>T (p.Arg738Cys) http://identifiers.org/clinvar/348514 ^@ NM_016955.3(SEPSECS):c.*3405_*3407delAAT http://identifiers.org/clinvar/348516 ^@ NM_016955.3(SEPSECS):c.*3234T>A http://identifiers.org/clinvar/344040 ^@ NM_001041.3(SI):c.2737-11dupT http://identifiers.org/clinvar/344046 ^@ NM_001041.3(SI):c.2159+12G>A http://identifiers.org/clinvar/348517 ^@ NM_016955.3(SEPSECS):c.*3134C>A http://identifiers.org/clinvar/344051 ^@ NM_001041.3(SI):c.1715+14C>A http://identifiers.org/clinvar/344053 ^@ NM_001041.3(SI):c.1616T>C (p.Met539Thr) http://identifiers.org/clinvar/344058 ^@ NM_001041.3(SI):c.1212G>A (p.Ala404=) http://identifiers.org/clinvar/344062 ^@ NM_001041.3(SI):c.952G>A (p.Gly318Ser) http://identifiers.org/clinvar/348518 ^@ NM_016955.3(SEPSECS):c.*3082A>G http://identifiers.org/clinvar/343750 ^@ NM_000096.3(CP):c.2998G>A (p.Gly1000Ser) http://identifiers.org/clinvar/348522 ^@ NM_016955.3(SEPSECS):c.*2694A>G http://identifiers.org/clinvar/343753 ^@ NM_000096.3(CP):c.2611G>A (p.Asp871Asn) http://identifiers.org/clinvar/343764 ^@ NM_000096.3(CP):c.1774C>G (p.Leu592Val) http://identifiers.org/clinvar/347086 ^@ NM_005908.3(MANBA):c.1953G>A (p.Thr651=) http://identifiers.org/clinvar/348527 ^@ NM_016955.3(SEPSECS):c.*2179T>C http://identifiers.org/clinvar/347087 ^@ NM_005908.3(MANBA):c.1705-13C>T http://identifiers.org/clinvar/344069 ^@ NM_001041.3(SI):c.627T>C (p.Gly209=) http://identifiers.org/clinvar/348528 ^@ NM_016955.3(SEPSECS):c.*2123A>G http://identifiers.org/clinvar/348538 ^@ NM_016955.3(SEPSECS):c.*638G>C http://identifiers.org/clinvar/348540 ^@ NM_016955.3(SEPSECS):c.*610G>A http://identifiers.org/clinvar/344070 ^@ NM_001041.3(SI):c.567G>A (p.Leu189=) http://identifiers.org/clinvar/343767 ^@ NM_000096.3(CP):c.1493A>G (p.Gln498Arg) http://identifiers.org/clinvar/347094 ^@ NM_005908.3(MANBA):c.961-8C>A http://identifiers.org/clinvar/344071 ^@ NM_001041.3(SI):c.556T>C (p.Ser186Pro) http://identifiers.org/clinvar/348554 ^@ NM_016955.3(SEPSECS):c.269+9_269+12delTTTT http://identifiers.org/clinvar/347099 ^@ NM_005908.3(MANBA):c.315G>A (p.Thr105=) http://identifiers.org/clinvar/343768 ^@ NM_000096.3(CP):c.1380C>T (p.Thr460=) http://identifiers.org/clinvar/348559 ^@ NM_003023.4(SH3BP2):c.-242G>T http://identifiers.org/clinvar/348568 ^@ NM_003023.4(SH3BP2):c.239G>A (p.Arg80Gln) http://identifiers.org/clinvar/348570 ^@ NM_003023.4(SH3BP2):c.299A>G (p.His100Arg) http://identifiers.org/clinvar/348572 ^@ NM_003023.4(SH3BP2):c.440C>T (p.Ser147Leu) http://identifiers.org/clinvar/347101 ^@ NM_005908.3(MANBA):c.-58G>A http://identifiers.org/clinvar/347107 ^@ NM_001059.2(TACR3):c.1246A>T (p.Asn416Tyr) http://identifiers.org/clinvar/347113 ^@ NM_001059.2(TACR3):c.579C>T (p.Pro193=) http://identifiers.org/clinvar/344072 ^@ NM_001041.3(SI):c.483+4C>T http://identifiers.org/clinvar/347118 ^@ NM_001059.2(TACR3):c.-86C>A http://identifiers.org/clinvar/348576 ^@ NM_003023.4(SH3BP2):c.497C>T (p.Pro166Leu) http://identifiers.org/clinvar/343772 ^@ NM_000096.3(CP):c.1275T>C (p.Tyr425=) http://identifiers.org/clinvar/348579 ^@ NM_003023.4(SH3BP2):c.528C>T (p.His176=) http://identifiers.org/clinvar/348585 ^@ NM_003023.4(SH3BP2):c.1150C>T (p.Arg384Trp) http://identifiers.org/clinvar/343776 ^@ NM_000096.3(CP):c.1104G>C (p.Gly368=) http://identifiers.org/clinvar/347119 ^@ NM_001059.2(TACR3):c.-103T>C http://identifiers.org/clinvar/344080 ^@ NM_000055.3(BCHE):c.*285T>C http://identifiers.org/clinvar/348597 ^@ NM_003023.4(SH3BP2):c.*102G>T http://identifiers.org/clinvar/348598 ^@ NM_003023.4(SH3BP2):c.*128T>C http://identifiers.org/clinvar/343777 ^@ NM_000096.3(CP):c.993T>C (p.Pro331=) http://identifiers.org/clinvar/343778 ^@ NM_000096.3(CP):c.944A>G (p.Asn315Ser) http://identifiers.org/clinvar/347120 ^@ NM_001059.2(TACR3):c.-111C>A http://identifiers.org/clinvar/348599 ^@ NM_003023.4(SH3BP2):c.*162G>A http://identifiers.org/clinvar/347123 ^@ NM_005327.4(HADH):c.-193G>A http://identifiers.org/clinvar/344084 ^@ NM_000055.3(BCHE):c.*174C>T http://identifiers.org/clinvar/344089 ^@ NM_000055.3(BCHE):c.1518-6A>G http://identifiers.org/clinvar/348607 ^@ NM_003023.4(SH3BP2):c.*742C>A http://identifiers.org/clinvar/347126 ^@ NM_005327.4(HADH):c.-71C>T http://identifiers.org/clinvar/348608 ^@ NM_003023.4(SH3BP2):c.*821A>G http://identifiers.org/clinvar/347130 ^@ NM_005327.4(HADH):c.-36C>T http://identifiers.org/clinvar/347134 ^@ NM_005327.4(HADH):c.291G>T (p.Leu97=) http://identifiers.org/clinvar/347139 ^@ NM_005327.4(HADH):c.*600C>T http://identifiers.org/clinvar/344099 ^@ NM_000055.3(BCHE):c.-8-6_-8-3delTTTC http://identifiers.org/clinvar/343784 ^@ NM_000096.3(CP):c.701A>G (p.Asp234Gly) http://identifiers.org/clinvar/343785 ^@ NM_000096.3(CP):c.669G>C (p.Val223=) http://identifiers.org/clinvar/344103 ^@ NM_145860.1(PDCD10):c.*221T>C http://identifiers.org/clinvar/347141 ^@ NM_005327.4(HADH):c.*818A>G http://identifiers.org/clinvar/347143 ^@ NM_000204.4(CFI):c.*112C>T http://identifiers.org/clinvar/348610 ^@ NM_003023.4(SH3BP2):c.*1067C>T http://identifiers.org/clinvar/347145 ^@ NM_000204.4(CFI):c.1661A>T (p.Glu554Val) http://identifiers.org/clinvar/348612 ^@ NM_003023.4(SH3BP2):c.*1318T>C http://identifiers.org/clinvar/348613 ^@ NM_003023.4(SH3BP2):c.*1361C>G http://identifiers.org/clinvar/347147 ^@ NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) http://identifiers.org/clinvar/348618 ^@ NM_003023.4(SH3BP2):c.*1655C>T http://identifiers.org/clinvar/348621 ^@ NM_003023.4(SH3BP2):c.*1798T>C http://identifiers.org/clinvar/348623 ^@ NM_003023.4(SH3BP2):c.*1860C>T http://identifiers.org/clinvar/344111 ^@ NM_145860.1(PDCD10):c.-116-9T>C http://identifiers.org/clinvar/344117 ^@ NM_005025.4(SERPINI1):c.-214A>G http://identifiers.org/clinvar/347151 ^@ NM_000204.4(CFI):c.1429+8T>C http://identifiers.org/clinvar/347153 ^@ NM_000204.4(CFI):c.1429G>C (p.Asp477His) http://identifiers.org/clinvar/344119 ^@ NM_005025.4(SERPINI1):c.40A>G (p.Ser14Gly) http://identifiers.org/clinvar/343793 ^@ NM_000096.3(CP):c.-183T>C http://identifiers.org/clinvar/347166 ^@ NM_000204.4(CFI):c.859G>A (p.Gly287Arg) http://identifiers.org/clinvar/347167 ^@ NM_000204.4(CFI):c.804G>A (p.Ser268=) http://identifiers.org/clinvar/347168 ^@ NM_000204.4(CFI):c.608C>T (p.Thr203Ile) http://identifiers.org/clinvar/347173 ^@ NM_000204.4(CFI):c.319A>G (p.Thr107Ala) http://identifiers.org/clinvar/347176 ^@ NM_000204.4(CFI):c.129C>T (p.Cys43=) http://identifiers.org/clinvar/347177 ^@ NM_000204.4(CFI):c.-13G>A http://identifiers.org/clinvar/347179 ^@ NM_198506.4(LRIT3):c.-14C>G http://identifiers.org/clinvar/344122 ^@ NM_005025.4(SERPINI1):c.161C>T (p.Ala54Val) http://identifiers.org/clinvar/348629 ^@ NM_003023.4(SH3BP2):c.*2202G>C http://identifiers.org/clinvar/348630 ^@ NM_003023.4(SH3BP2):c.*2342C>T http://identifiers.org/clinvar/347183 ^@ NM_198506.4(LRIT3):c.660C>T (p.Asp220=) http://identifiers.org/clinvar/344125 ^@ NM_005025.4(SERPINI1):c.289G>A (p.Val97Ile) http://identifiers.org/clinvar/344127 ^@ NM_005025.4(SERPINI1):c.410A>G (p.Asn137Ser) http://identifiers.org/clinvar/348637 ^@ NM_003023.4(SH3BP2):c.*2513_*2518delAGTGTT http://identifiers.org/clinvar/348638 ^@ NM_003023.4(SH3BP2):c.*2574G>A http://identifiers.org/clinvar/348639 ^@ NM_003023.4(SH3BP2):c.*2579C>T http://identifiers.org/clinvar/347184 ^@ NM_198506.4(LRIT3):c.848C>T (p.Pro283Leu) http://identifiers.org/clinvar/347185 ^@ NM_198506.4(LRIT3):c.966C>T (p.Asp322=) http://identifiers.org/clinvar/347187 ^@ NM_198506.4(LRIT3):c.1046C>T (p.Thr349Ile) http://identifiers.org/clinvar/343795 ^@ NM_174878.2(CLRN1):c.*1331C>T http://identifiers.org/clinvar/348641 ^@ NM_003023.4(SH3BP2):c.*2665C>G http://identifiers.org/clinvar/347188 ^@ NM_198506.4(LRIT3):c.1157T>G (p.Leu386Arg) http://identifiers.org/clinvar/348642 ^@ NM_003023.4(SH3BP2):c.*2804G>A http://identifiers.org/clinvar/348651 ^@ NM_003023.4(SH3BP2):c.*3155C>T http://identifiers.org/clinvar/344128 ^@ NM_005025.4(SERPINI1):c.432T>C (p.Asn144=) http://identifiers.org/clinvar/348658 ^@ NM_003023.4(SH3BP2):c.*3383C>T http://identifiers.org/clinvar/344131 ^@ NM_005025.4(SERPINI1):c.838G>A (p.Ala280Thr) http://identifiers.org/clinvar/344135 ^@ NM_005025.4(SERPINI1):c.*197T>C http://identifiers.org/clinvar/344148 ^@ NM_000340.1(SLC2A2):c.*568A>T http://identifiers.org/clinvar/348662 ^@ NM_003023.4(SH3BP2):c.*3638A>G http://identifiers.org/clinvar/343796 ^@ NM_174878.2(CLRN1):c.*1330T>C http://identifiers.org/clinvar/348675 ^@ NM_003023.4(SH3BP2):c.*4776T>C http://identifiers.org/clinvar/348690 ^@ NM_003023.4(SH3BP2):c.*5738dupT http://identifiers.org/clinvar/348700 ^@ NM_003023.4(SH3BP2):c.*6061G>C http://identifiers.org/clinvar/348702 ^@ NM_003023.4(SH3BP2):c.*6109A>G http://identifiers.org/clinvar/347198 ^@ NM_198506.4(LRIT3):c.1638C>T (p.Pro546=) http://identifiers.org/clinvar/347199 ^@ NM_198506.4(LRIT3):c.1752_1754delTCT (p.Leu585del) http://identifiers.org/clinvar/347202 ^@ NM_198506.4(LRIT3):c.*389G>A http://identifiers.org/clinvar/347210 ^@ NM_198506.4(LRIT3):c.*1123T>C http://identifiers.org/clinvar/344155 ^@ NM_000340.1(SLC2A2):c.*153A>G http://identifiers.org/clinvar/348703 ^@ NM_003023.4(SH3BP2):c.*6136A>C http://identifiers.org/clinvar/344163 ^@ NM_000340.1(SLC2A2):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/347211 ^@ NM_198506.4(LRIT3):c.*1157T>C http://identifiers.org/clinvar/347212 ^@ NM_198506.4(LRIT3):c.*1191T>C http://identifiers.org/clinvar/344174 ^@ NM_198407.2(GHSR):c.*1815C>G http://identifiers.org/clinvar/344177 ^@ NM_198407.2(GHSR):c.*1554C>T http://identifiers.org/clinvar/348704 ^@ NM_003023.4(SH3BP2):c.*6211C>T http://identifiers.org/clinvar/344180 ^@ NM_198407.2(GHSR):c.*1308T>G http://identifiers.org/clinvar/344181 ^@ NM_198407.2(GHSR):c.*1268T>C http://identifiers.org/clinvar/343799 ^@ NM_174878.2(CLRN1):c.*1038G>A http://identifiers.org/clinvar/344182 ^@ NM_198407.2(GHSR):c.*1109G>T http://identifiers.org/clinvar/344183 ^@ NM_198407.2(GHSR):c.*1046T>A http://identifiers.org/clinvar/348705 ^@ NM_003023.4(SH3BP2):c.*6399_*6400insA http://identifiers.org/clinvar/348709 ^@ NM_003023.4(SH3BP2):c.*6592G>C http://identifiers.org/clinvar/344190 ^@ NM_198407.2(GHSR):c.*792G>C http://identifiers.org/clinvar/347215 ^@ NM_198506.4(LRIT3):c.*1322T>C http://identifiers.org/clinvar/348711 ^@ NM_003023.4(SH3BP2):c.*6618G>A http://identifiers.org/clinvar/348714 ^@ NM_003023.4(SH3BP2):c.*6928T>C http://identifiers.org/clinvar/343800 ^@ NM_174878.2(CLRN1):c.*964C>T http://identifiers.org/clinvar/343803 ^@ NM_174878.2(CLRN1):c.*425G>A http://identifiers.org/clinvar/348715 ^@ NM_003023.4(SH3BP2):c.*6979A>G http://identifiers.org/clinvar/347228 ^@ NM_001963.5(EGF):c.556G>C (p.Asp186His) http://identifiers.org/clinvar/347233 ^@ NM_001963.5(EGF):c.1140C>T (p.Cys380=) http://identifiers.org/clinvar/344195 ^@ NM_198407.2(GHSR):c.*294C>A http://identifiers.org/clinvar/348718 ^@ NM_003023.4(SH3BP2):c.*7166_*7167delTT http://identifiers.org/clinvar/348729 ^@ NM_025132.3(WDR19):c.1064A>T (p.Asp355Val) http://identifiers.org/clinvar/344197 ^@ NM_198407.2(GHSR):c.*114A>G http://identifiers.org/clinvar/343809 ^@ NM_174878.2(CLRN1):c.*303_*304delGT http://identifiers.org/clinvar/344198 ^@ NM_198407.2(GHSR):c.1051C>T (p.Leu351=) http://identifiers.org/clinvar/348731 ^@ NM_025132.3(WDR19):c.1173C>T (p.Asn391=) http://identifiers.org/clinvar/348734 ^@ NM_025132.3(WDR19):c.1293C>T (p.Ala431=) http://identifiers.org/clinvar/344203 ^@ NM_198407.2(GHSR):c.-23G>A http://identifiers.org/clinvar/344207 ^@ NM_031955.5(SPATA16):c.1365G>T (p.Val455=) http://identifiers.org/clinvar/344212 ^@ NM_031955.5(SPATA16):c.873G>A (p.Met291Ile) http://identifiers.org/clinvar/343807 ^@ NM_174878.2(CLRN1):c.*303_*304dupGT http://identifiers.org/clinvar/344214 ^@ NM_031955.5(SPATA16):c.828G>A (p.Glu276=) http://identifiers.org/clinvar/344215 ^@ NM_031955.5(SPATA16):c.720G>A (p.Arg240=) http://identifiers.org/clinvar/348735 ^@ NM_025132.3(WDR19):c.1357-7G>A http://identifiers.org/clinvar/344218 ^@ NM_031955.5(SPATA16):c.546T>C (p.Asp182=) http://identifiers.org/clinvar/348743 ^@ NM_025132.3(WDR19):c.2429A>G (p.Asp810Gly) http://identifiers.org/clinvar/348749 ^@ NM_025132.3(WDR19):c.3358+15C>T http://identifiers.org/clinvar/348752 ^@ NM_025132.3(WDR19):c.3439A>G (p.Met1147Val) http://identifiers.org/clinvar/343810 ^@ NM_174878.2(CLRN1):c.*301_*304delGTGT http://identifiers.org/clinvar/343813 ^@ NM_174878.2(CLRN1):c.*275_*276delAT http://identifiers.org/clinvar/343814 ^@ NM_174878.2(CLRN1):c.*275A>G http://identifiers.org/clinvar/348758 ^@ NM_025132.3(WDR19):c.*13+15G>A http://identifiers.org/clinvar/347236 ^@ NM_001963.5(EGF):c.1491T>C (p.His497=) http://identifiers.org/clinvar/344220 ^@ NM_031955.5(SPATA16):c.430A>C (p.Met144Leu) http://identifiers.org/clinvar/344228 ^@ NM_031955.5(SPATA16):c.91A>T (p.Met31Leu) http://identifiers.org/clinvar/348759 ^@ NM_025132.3(WDR19):c.*131C>T http://identifiers.org/clinvar/344231 ^@ NM_031955.5(SPATA16):c.-141C>T http://identifiers.org/clinvar/348760 ^@ NM_025132.3(WDR19):c.*152G>A http://identifiers.org/clinvar/348769 ^@ NM_004181.4(UCHL1):c.45+6T>C http://identifiers.org/clinvar/343820 ^@ NM_174878.2(CLRN1):c.-274A>C http://identifiers.org/clinvar/344233 ^@ NM_031955.5(SPATA16):c.-159C>A http://identifiers.org/clinvar/348771 ^@ NM_004181.4(UCHL1):c.326-4delT http://identifiers.org/clinvar/348776 ^@ NM_004181.4(UCHL1):c.*125C>T http://identifiers.org/clinvar/343821 ^@ NM_174878.2(CLRN1):c.-289G>A http://identifiers.org/clinvar/343823 ^@ NM_005677.3(COLQ):c.*1395C>T http://identifiers.org/clinvar/343826 ^@ NM_005677.3(COLQ):c.*1248C>T http://identifiers.org/clinvar/343829 ^@ NM_005677.3(COLQ):c.*999G>A http://identifiers.org/clinvar/343832 ^@ NM_005677.3(COLQ):c.*848C>T http://identifiers.org/clinvar/344235 ^@ NM_181426.1(CCDC39):c.*805_*807delAGT http://identifiers.org/clinvar/348783 ^@ NM_003924.3(PHOX2B):c.*1486T>C http://identifiers.org/clinvar/343833 ^@ NM_005677.3(COLQ):c.*751C>T http://identifiers.org/clinvar/348785 ^@ NM_003924.3(PHOX2B):c.*1387C>T http://identifiers.org/clinvar/348790 ^@ NM_003924.3(PHOX2B):c.*1269A>G http://identifiers.org/clinvar/348795 ^@ NM_003924.3(PHOX2B):c.*674dupT http://identifiers.org/clinvar/344248 ^@ NM_181426.1(CCDC39):c.*529_*530insACC http://identifiers.org/clinvar/344253 ^@ NM_181426.1(CCDC39):c.*325C>T http://identifiers.org/clinvar/347237 ^@ NM_001963.5(EGF):c.1575+6G>A http://identifiers.org/clinvar/348808 ^@ NM_003924.3(PHOX2B):c.*18G>A http://identifiers.org/clinvar/348811 ^@ NM_003924.3(PHOX2B):c.-195G>A http://identifiers.org/clinvar/347239 ^@ NM_001963.5(EGF):c.1725-12C>A http://identifiers.org/clinvar/347242 ^@ NM_001963.5(EGF):c.2073A>G (p.Ala691=) http://identifiers.org/clinvar/347245 ^@ NM_001963.5(EGF):c.2124G>A (p.Met708Ile) http://identifiers.org/clinvar/343834 ^@ NM_005677.3(COLQ):c.*516G>A http://identifiers.org/clinvar/347249 ^@ NM_001963.5(EGF):c.2608+14G>A http://identifiers.org/clinvar/347257 ^@ NM_001963.5(EGF):c.3346G>T (p.Gly1116Cys) http://identifiers.org/clinvar/344262 ^@ NM_181426.1(CCDC39):c.2079C>T (p.Tyr693=) http://identifiers.org/clinvar/344269 ^@ NM_181426.1(CCDC39):c.1362+13T>C http://identifiers.org/clinvar/347259 ^@ NM_001963.5(EGF):c.3406dupC (p.Gln1136Profs) http://identifiers.org/clinvar/347264 ^@ NM_001963.5(EGF):c.*107C>T http://identifiers.org/clinvar/344280 ^@ NM_181426.1(CCDC39):c.210+4C>T http://identifiers.org/clinvar/344281 ^@ NM_181426.1(CCDC39):c.68A>C (p.Glu23Ala) http://identifiers.org/clinvar/344285 ^@ NM_181426.1(CCDC39):c.-111C>T http://identifiers.org/clinvar/344286 ^@ NM_145261.3(DNAJC19):c.*692T>C http://identifiers.org/clinvar/344292 ^@ NM_145261.3(DNAJC19):c.*365T>C http://identifiers.org/clinvar/344300 ^@ NM_020166.4(MCCC1):c.*45A>T http://identifiers.org/clinvar/347268 ^@ NM_001963.5(EGF):c.*361T>C http://identifiers.org/clinvar/348817 ^@ NM_001080476.2(GRXCR1):c.289G>A (p.Val97Ile) http://identifiers.org/clinvar/344301 ^@ NM_020166.4(MCCC1):c.*1A>T http://identifiers.org/clinvar/347273 ^@ NM_001963.5(EGF):c.*483C>T http://identifiers.org/clinvar/348818 ^@ NM_001080476.2(GRXCR1):c.331T>C (p.Tyr111His) http://identifiers.org/clinvar/347274 ^@ NM_001963.5(EGF):c.*561G>C http://identifiers.org/clinvar/347276 ^@ NM_001963.5(EGF):c.*926dupT http://identifiers.org/clinvar/347279 ^@ NM_001963.5(EGF):c.*929G>A http://identifiers.org/clinvar/348822 ^@ NM_001080476.2(GRXCR1):c.604T>C (p.Phe202Leu) http://identifiers.org/clinvar/347281 ^@ NM_001963.5(EGF):c.*1118A>C http://identifiers.org/clinvar/347283 ^@ NM_001963.5(EGF):c.*1244T>C http://identifiers.org/clinvar/347284 ^@ NM_001963.5(EGF):c.*1265T>A http://identifiers.org/clinvar/344305 ^@ NM_020166.4(MCCC1):c.1724G>A (p.Ser575Asn) http://identifiers.org/clinvar/344311 ^@ NM_020166.4(MCCC1):c.729T>C (p.Ala243=) http://identifiers.org/clinvar/347293 ^@ NM_153427.2(PITX2):c.*370G>C http://identifiers.org/clinvar/343844 ^@ NM_005677.3(COLQ):c.*76C>A http://identifiers.org/clinvar/343850 ^@ NM_005677.3(COLQ):c.785G>A (p.Arg262His) http://identifiers.org/clinvar/348829 ^@ NM_000087.3(CNGA1):c.*372_*373delAT http://identifiers.org/clinvar/348831 ^@ NM_000087.3(CNGA1):c.*273dupA http://identifiers.org/clinvar/348842 ^@ NM_000087.3(CNGA1):c.654A>G (p.Arg218=) http://identifiers.org/clinvar/344322 ^@ NM_003907.2(EIF2B5):c.-313A>G http://identifiers.org/clinvar/343893 ^@ NM_005677.3(COLQ):c.-106_-105dupCA http://identifiers.org/clinvar/343860 ^@ NM_004733.3(SLC33A1):c.*1141A>T http://identifiers.org/clinvar/348844 ^@ NM_000087.3(CNGA1):c.361G>A (p.Glu121Lys) http://identifiers.org/clinvar/348847 ^@ NM_000232.4(SGCB):c.*3258G>C http://identifiers.org/clinvar/348848 ^@ NM_000232.4(SGCB):c.*3216A>G http://identifiers.org/clinvar/343863 ^@ NM_004733.3(SLC33A1):c.*755C>T http://identifiers.org/clinvar/348852 ^@ NM_000232.4(SGCB):c.*2811G>A http://identifiers.org/clinvar/348855 ^@ NM_000232.4(SGCB):c.*2580C>T http://identifiers.org/clinvar/348861 ^@ NM_000232.4(SGCB):c.*1963_*1966delTTTA http://identifiers.org/clinvar/347304 ^@ NM_001148.4(ANK2):c.597C>T (p.Ala199=) http://identifiers.org/clinvar/347306 ^@ NM_001148.4(ANK2):c.844G>T (p.Val282Leu) http://identifiers.org/clinvar/347307 ^@ NM_001148.4(ANK2):c.862C>A (p.Arg288=) http://identifiers.org/clinvar/347316 ^@ NM_001148.4(ANK2):c.2850C>A (p.Gly950=) http://identifiers.org/clinvar/344326 ^@ NM_003907.2(EIF2B5):c.-150G>C http://identifiers.org/clinvar/348863 ^@ NM_000232.4(SGCB):c.*1648dupA http://identifiers.org/clinvar/347322 ^@ NM_001148.4(ANK2):c.4618G>T (p.Ala1540Ser) http://identifiers.org/clinvar/344327 ^@ NM_003907.2(EIF2B5):c.-117C>T http://identifiers.org/clinvar/344339 ^@ NM_003907.2(EIF2B5):c.2107-15T>C http://identifiers.org/clinvar/344340 ^@ NM_003907.2(EIF2B5):c.2107-14C>T http://identifiers.org/clinvar/348864 ^@ NM_000232.4(SGCB):c.*1624C>T http://identifiers.org/clinvar/347326 ^@ NM_001148.4(ANK2):c.5860G>T (p.Ala1954Ser) http://identifiers.org/clinvar/348866 ^@ NM_000232.4(SGCB):c.*1135C>G http://identifiers.org/clinvar/348871 ^@ NM_000232.4(SGCB):c.*1113G>A http://identifiers.org/clinvar/343864 ^@ NM_004733.3(SLC33A1):c.*746T>G http://identifiers.org/clinvar/343866 ^@ NM_004733.3(SLC33A1):c.*582_*583delAA http://identifiers.org/clinvar/343872 ^@ NM_004733.3(SLC33A1):c.*149C>T http://identifiers.org/clinvar/344345 ^@ NM_005787.5(ALG3):c.*65C>T http://identifiers.org/clinvar/348872 ^@ NM_000232.4(SGCB):c.*1105A>G http://identifiers.org/clinvar/344349 ^@ NM_005787.5(ALG3):c.985C>T (p.Pro329Ser) http://identifiers.org/clinvar/347327 ^@ NM_001148.4(ANK2):c.5936C>T (p.Ser1979Leu) http://identifiers.org/clinvar/347328 ^@ NM_001148.4(ANK2):c.6100G>A (p.Gly2034Arg) http://identifiers.org/clinvar/344350 ^@ NM_005787.5(ALG3):c.933-4C>T http://identifiers.org/clinvar/343884 ^@ NM_004733.3(SLC33A1):c.131G>T (p.Gly44Val) http://identifiers.org/clinvar/344354 ^@ NM_005787.5(ALG3):c.606-8C>T http://identifiers.org/clinvar/343885 ^@ NM_004733.3(SLC33A1):c.-27C>T http://identifiers.org/clinvar/348878 ^@ NM_000232.4(SGCB):c.*507A>G http://identifiers.org/clinvar/348885 ^@ NM_000232.4(SGCB):c.-18G>A http://identifiers.org/clinvar/344355 ^@ NM_005787.5(ALG3):c.591T>C (p.Gly197=) http://identifiers.org/clinvar/344358 ^@ NM_005787.5(ALG3):c.319A>G (p.Ile107Val) http://identifiers.org/clinvar/347333 ^@ NM_001148.4(ANK2):c.7932G>A (p.Glu2644=) http://identifiers.org/clinvar/348893 ^@ NM_006206.4(PDGFRA):c.-104_-103delAG http://identifiers.org/clinvar/347347 ^@ NM_001148.4(ANK2):c.11300A>T (p.Glu3767Val) http://identifiers.org/clinvar/344359 ^@ NM_005787.5(ALG3):c.297-6T>C http://identifiers.org/clinvar/347354 ^@ NM_001148.4(ANK2):c.*446T>C http://identifiers.org/clinvar/344366 ^@ NM_000460.3(THPO):c.*482A>T http://identifiers.org/clinvar/343887 ^@ NM_004733.3(SLC33A1):c.-43C>T http://identifiers.org/clinvar/343888 ^@ NM_004733.3(SLC33A1):c.-125C>T http://identifiers.org/clinvar/343917 ^@ NM_024996.5(GFM1):c.-73C>T http://identifiers.org/clinvar/344370 ^@ NM_000460.3(THPO):c.889A>G (p.Thr297Ala) http://identifiers.org/clinvar/348898 ^@ NM_006206.4(PDGFRA):c.954A>G (p.Lys318=) http://identifiers.org/clinvar/348900 ^@ NM_006206.4(PDGFRA):c.1122-6T>A http://identifiers.org/clinvar/344371 ^@ NM_000460.3(THPO):c.671G>A (p.Gly224Glu) http://identifiers.org/clinvar/344388 ^@ NM_003722.4(TP63):c.1644C>T (p.Ser548=) http://identifiers.org/clinvar/347357 ^@ NM_001148.4(ANK2):c.*647T>C http://identifiers.org/clinvar/348908 ^@ NM_006206.4(PDGFRA):c.3191A>G (p.Asp1064Gly) http://identifiers.org/clinvar/347359 ^@ NM_001148.4(ANK2):c.*928A>G http://identifiers.org/clinvar/343918 ^@ NM_024996.5(GFM1):c.-33C>T http://identifiers.org/clinvar/347362 ^@ NM_001148.4(ANK2):c.*1239C>T http://identifiers.org/clinvar/347364 ^@ NM_001148.4(ANK2):c.*1741C>T http://identifiers.org/clinvar/343921 ^@ NM_024996.5(GFM1):c.81+5C>T http://identifiers.org/clinvar/343928 ^@ NM_024996.5(GFM1):c.987C>A (p.Leu329=) http://identifiers.org/clinvar/348911 ^@ NM_006206.4(PDGFRA):c.*51G>A http://identifiers.org/clinvar/344396 ^@ NM_003722.4(TP63):c.*295T>A http://identifiers.org/clinvar/344399 ^@ NM_003722.4(TP63):c.*435C>T http://identifiers.org/clinvar/344408 ^@ NM_003722.4(TP63):c.*1164A>G http://identifiers.org/clinvar/344413 ^@ NM_003722.4(TP63):c.*1472A>G http://identifiers.org/clinvar/348919 ^@ NM_006206.4(PDGFRA):c.*574_*575delAA http://identifiers.org/clinvar/348922 ^@ NM_006206.4(PDGFRA):c.*936A>C http://identifiers.org/clinvar/347365 ^@ NM_001148.4(ANK2):c.*1799G>A http://identifiers.org/clinvar/347366 ^@ NM_001148.4(ANK2):c.*1950C>A http://identifiers.org/clinvar/347369 ^@ NM_003619.3(PRSS12):c.*1865T>C http://identifiers.org/clinvar/343929 ^@ NM_024996.5(GFM1):c.1032C>T (p.Asn344=) http://identifiers.org/clinvar/348923 ^@ NM_006206.4(PDGFRA):c.*974_*977delCAAA http://identifiers.org/clinvar/344416 ^@ NM_003722.4(TP63):c.*1844dupA http://identifiers.org/clinvar/343933 ^@ NM_024996.5(GFM1):c.1384G>T (p.Asp462Tyr) http://identifiers.org/clinvar/347374 ^@ NM_003619.3(PRSS12):c.*1504G>A http://identifiers.org/clinvar/344418 ^@ NM_003722.4(TP63):c.*1947dupT http://identifiers.org/clinvar/344420 ^@ NM_003722.4(TP63):c.*1959A>T http://identifiers.org/clinvar/344421 ^@ NM_003722.4(TP63):c.*2002T>G http://identifiers.org/clinvar/347388 ^@ NM_003619.3(PRSS12):c.*221A>T http://identifiers.org/clinvar/347389 ^@ NM_003619.3(PRSS12):c.*208C>T http://identifiers.org/clinvar/347396 ^@ NM_003619.3(PRSS12):c.1773C>T (p.His591=) http://identifiers.org/clinvar/348927 ^@ NM_006206.4(PDGFRA):c.*1112_*1113delCT http://identifiers.org/clinvar/347401 ^@ NM_003619.3(PRSS12):c.669G>A (p.Pro223=) http://identifiers.org/clinvar/348928 ^@ NM_006206.4(PDGFRA):c.*1137G>A http://identifiers.org/clinvar/344422 ^@ NM_003722.4(TP63):c.*2009T>C http://identifiers.org/clinvar/344424 ^@ NM_003722.4(TP63):c.*2139G>A http://identifiers.org/clinvar/344428 ^@ NM_003722.4(TP63):c.*2216G>A http://identifiers.org/clinvar/344431 ^@ NM_003722.4(TP63):c.*2345C>T http://identifiers.org/clinvar/347403 ^@ NM_003619.3(PRSS12):c.480G>C (p.Trp160Cys) http://identifiers.org/clinvar/348934 ^@ NM_006206.4(PDGFRA):c.*1809G>C http://identifiers.org/clinvar/347406 ^@ NM_016599.4(MYOZ2):c.277G>A (p.Asp93Asn) http://identifiers.org/clinvar/344432 ^@ NM_003722.4(TP63):c.*2426C>T http://identifiers.org/clinvar/344433 ^@ NM_003722.4(TP63):c.*2477T>G http://identifiers.org/clinvar/344443 ^@ NM_006580.3(CLDN16):c.-3A>T http://identifiers.org/clinvar/348936 ^@ NM_006206.4(PDGFRA):c.*1928G>C http://identifiers.org/clinvar/348938 ^@ NM_006206.4(PDGFRA):c.*1971C>T http://identifiers.org/clinvar/343934 ^@ NM_024996.5(GFM1):c.1385A>G (p.Asp462Gly) http://identifiers.org/clinvar/344444 ^@ NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs) http://identifiers.org/clinvar/343937 ^@ NM_024996.5(GFM1):c.2190C>T (p.Asp730=) http://identifiers.org/clinvar/348939 ^@ NM_006206.4(PDGFRA):c.*2110C>T http://identifiers.org/clinvar/348943 ^@ NM_006206.4(PDGFRA):c.*2387T>G http://identifiers.org/clinvar/343939 ^@ NM_024996.5(GFM1):c.*119G>A http://identifiers.org/clinvar/343940 ^@ NM_024996.5(GFM1):c.*226C>T http://identifiers.org/clinvar/348944 ^@ NM_006206.4(PDGFRA):c.*2475C>T http://identifiers.org/clinvar/344458 ^@ NM_006580.3(CLDN16):c.*768delG http://identifiers.org/clinvar/344460 ^@ NM_006580.3(CLDN16):c.*842C>T http://identifiers.org/clinvar/347413 ^@ NM_016599.4(MYOZ2):c.*412A>T http://identifiers.org/clinvar/348950 ^@ NM_006206.4(PDGFRA):c.*2604G>T http://identifiers.org/clinvar/348955 ^@ NM_000222.2(KIT):c.2847C>T (p.Pro949=) http://identifiers.org/clinvar/348956 ^@ NM_000222.2(KIT):c.2923G>C (p.Asp975His) http://identifiers.org/clinvar/347414 ^@ NM_016599.4(MYOZ2):c.*639G>A http://identifiers.org/clinvar/347415 ^@ NM_016599.4(MYOZ2):c.*908G>A http://identifiers.org/clinvar/347416 ^@ NM_016599.4(MYOZ2):c.*1000T>C http://identifiers.org/clinvar/343943 ^@ NM_024996.5(GFM1):c.*483_*484insTA http://identifiers.org/clinvar/348962 ^@ NM_000222.2(KIT):c.*368C>T http://identifiers.org/clinvar/348964 ^@ NM_000222.2(KIT):c.*597C>T http://identifiers.org/clinvar/343944 ^@ NM_024996.5(GFM1):c.*559T>C http://identifiers.org/clinvar/343945 ^@ NM_024996.5(GFM1):c.*578C>T http://identifiers.org/clinvar/347418 ^@ NM_016599.4(MYOZ2):c.*1083G>T http://identifiers.org/clinvar/347429 ^@ NM_018699.3(PRDM5):c.*120T>C http://identifiers.org/clinvar/343946 ^@ NM_024996.5(GFM1):c.*691T>A http://identifiers.org/clinvar/343948 ^@ NM_024996.5(GFM1):c.*731C>T http://identifiers.org/clinvar/348966 ^@ NM_000222.2(KIT):c.*1059C>T http://identifiers.org/clinvar/348968 ^@ NM_000222.2(KIT):c.*1101A>G http://identifiers.org/clinvar/343955 ^@ NM_020800.2(IFT80):c.*767G>C http://identifiers.org/clinvar/343956 ^@ NM_020800.2(IFT80):c.*677A>G http://identifiers.org/clinvar/347435 ^@ NM_018699.3(PRDM5):c.1379A>G (p.Lys460Arg) http://identifiers.org/clinvar/347437 ^@ NM_018699.3(PRDM5):c.1234T>C (p.Leu412=) http://identifiers.org/clinvar/343957 ^@ NM_020800.2(IFT80):c.*551A>G http://identifiers.org/clinvar/343961 ^@ NM_020800.2(IFT80):c.2289A>G (p.Gln763=) http://identifiers.org/clinvar/347441 ^@ NM_018699.3(PRDM5):c.946-9C>T http://identifiers.org/clinvar/347446 ^@ NM_018699.3(PRDM5):c.650+7A>T http://identifiers.org/clinvar/343965 ^@ NM_020800.2(IFT80):c.1926+13T>C http://identifiers.org/clinvar/344461 ^@ NM_006580.3(CLDN16):c.*907A>G http://identifiers.org/clinvar/347447 ^@ NM_018699.3(PRDM5):c.650+5G>A http://identifiers.org/clinvar/347448 ^@ NM_018699.3(PRDM5):c.592G>C (p.Glu198Gln) http://identifiers.org/clinvar/347452 ^@ NM_018699.3(PRDM5):c.237C>T (p.Ser79=) http://identifiers.org/clinvar/344463 ^@ NM_006580.3(CLDN16):c.*1117G>A http://identifiers.org/clinvar/347455 ^@ NM_018699.3(PRDM5):c.94-10T>G http://identifiers.org/clinvar/348972 ^@ NM_000222.2(KIT):c.*1704G>T http://identifiers.org/clinvar/349003 ^@ NM_024592.4(SRD5A3):c.-84G>C http://identifiers.org/clinvar/347458 ^@ NM_018699.3(PRDM5):c.-133T>C http://identifiers.org/clinvar/347459 ^@ NM_018699.3(PRDM5):c.-172C>T http://identifiers.org/clinvar/347463 ^@ NM_176824.2(BBS7):c.*1526C>T http://identifiers.org/clinvar/347466 ^@ NM_176824.2(BBS7):c.*1209_*1211delATT http://identifiers.org/clinvar/349004 ^@ NM_024592.4(SRD5A3):c.-40G>A http://identifiers.org/clinvar/347469 ^@ NM_176824.2(BBS7):c.*996T>C http://identifiers.org/clinvar/349008 ^@ NM_024592.4(SRD5A3):c.925C>G (p.His309Asp) http://identifiers.org/clinvar/344469 ^@ NM_006580.3(CLDN16):c.*1377T>A http://identifiers.org/clinvar/344472 ^@ NM_006580.3(CLDN16):c.*1559C>A http://identifiers.org/clinvar/343971 ^@ NM_020800.2(IFT80):c.1126G>C (p.Val376Leu) http://identifiers.org/clinvar/344474 ^@ NM_006580.3(CLDN16):c.*1763T>A http://identifiers.org/clinvar/349009 ^@ NM_024592.4(SRD5A3):c.*70C>T http://identifiers.org/clinvar/347470 ^@ NM_176824.2(BBS7):c.*932T>G http://identifiers.org/clinvar/347473 ^@ NM_176824.2(BBS7):c.*690T>C http://identifiers.org/clinvar/347478 ^@ NM_176824.2(BBS7):c.*273T>C http://identifiers.org/clinvar/347483 ^@ NM_176824.2(BBS7):c.1442G>A (p.Cys481Tyr) http://identifiers.org/clinvar/347486 ^@ NM_176824.2(BBS7):c.651G>A (p.Ala217=) http://identifiers.org/clinvar/347495 ^@ NM_152618.2(BBS12):c.-109G>T http://identifiers.org/clinvar/347496 ^@ NM_152618.2(BBS12):c.-61G>C http://identifiers.org/clinvar/347508 ^@ NM_152618.2(BBS12):c.*187dupA http://identifiers.org/clinvar/347510 ^@ NM_152618.2(BBS12):c.*484A>G http://identifiers.org/clinvar/343972 ^@ NM_020800.2(IFT80):c.1069G>A (p.Val357Met) http://identifiers.org/clinvar/343975 ^@ NM_020800.2(IFT80):c.807T>C (p.Thr269=) http://identifiers.org/clinvar/347511 ^@ NM_152618.2(BBS12):c.*613T>C http://identifiers.org/clinvar/349017 ^@ NM_024592.4(SRD5A3):c.*381_*382delCA http://identifiers.org/clinvar/343977 ^@ NM_020800.2(IFT80):c.707C>T (p.Ala236Val) http://identifiers.org/clinvar/349019 ^@ NM_024592.4(SRD5A3):c.*546G>A http://identifiers.org/clinvar/349023 ^@ NM_024592.4(SRD5A3):c.*991C>T http://identifiers.org/clinvar/343992 ^@ NM_020800.2(IFT80):c.-392T>G http://identifiers.org/clinvar/347513 ^@ NM_152618.2(BBS12):c.*811C>G http://identifiers.org/clinvar/344475 ^@ NM_006580.3(CLDN16):c.*1779A>C http://identifiers.org/clinvar/344492 ^@ NM_015560.2(OPA1):c.*322G>A http://identifiers.org/clinvar/344495 ^@ NM_015560.2(OPA1):c.*622C>T http://identifiers.org/clinvar/347516 ^@ NM_152618.2(BBS12):c.*859T>A http://identifiers.org/clinvar/344498 ^@ NM_015560.2(OPA1):c.*863A>G http://identifiers.org/clinvar/349027 ^@ NM_024592.4(SRD5A3):c.*1518C>T http://identifiers.org/clinvar/349028 ^@ NM_024592.4(SRD5A3):c.*1567T>C http://identifiers.org/clinvar/349031 ^@ NM_024592.4(SRD5A3):c.*1859C>T http://identifiers.org/clinvar/349032 ^@ NM_024592.4(SRD5A3):c.*1935C>T http://identifiers.org/clinvar/344516 ^@ NM_015560.2(OPA1):c.*2605_*2607delGGA http://identifiers.org/clinvar/344521 ^@ NM_015560.2(OPA1):c.*2993C>A http://identifiers.org/clinvar/344529 ^@ NM_000996.2(RPL35A):c.266G>A (p.Arg89Gln) http://identifiers.org/clinvar/343996 ^@ NM_001041.3(SI):c.*229T>C http://identifiers.org/clinvar/343997 ^@ NM_001041.3(SI):c.*217A>C http://identifiers.org/clinvar/344539 ^@ NM_000461.4(THRB):c.*5295C>T http://identifiers.org/clinvar/344002 ^@ NM_001041.3(SI):c.5108+13T>C http://identifiers.org/clinvar/349035 ^@ NM_024592.4(SRD5A3):c.*2090G>A http://identifiers.org/clinvar/349037 ^@ NM_024592.4(SRD5A3):c.*2112G>A http://identifiers.org/clinvar/344004 ^@ NM_001041.3(SI):c.4873T>G (p.Phe1625Val) http://identifiers.org/clinvar/344013 ^@ NM_001041.3(SI):c.4239C>T (p.Asp1413=) http://identifiers.org/clinvar/344015 ^@ NM_001041.3(SI):c.4203T>G (p.Phe1401Leu) http://identifiers.org/clinvar/347518 ^@ NM_152778.2(MFSD8):c.*2683C>T http://identifiers.org/clinvar/349042 ^@ NM_024592.4(SRD5A3):c.*2277delT http://identifiers.org/clinvar/349047 ^@ NM_024592.4(SRD5A3):c.*2589G>A http://identifiers.org/clinvar/344020 ^@ NM_001041.3(SI):c.4044G>A (p.Thr1348=) http://identifiers.org/clinvar/344026 ^@ NM_001041.3(SI):c.3760-7A>G http://identifiers.org/clinvar/344029 ^@ NM_001041.3(SI):c.3423+11A>G http://identifiers.org/clinvar/344541 ^@ NM_000461.4(THRB):c.*5257C>A http://identifiers.org/clinvar/344032 ^@ NM_001041.3(SI):c.3197A>G (p.Glu1066Gly) http://identifiers.org/clinvar/344034 ^@ NM_001041.3(SI):c.2923T>C (p.Tyr975His) http://identifiers.org/clinvar/344543 ^@ NM_000461.4(THRB):c.*5166G>C http://identifiers.org/clinvar/349051 ^@ NM_024592.4(SRD5A3):c.*2858dupA http://identifiers.org/clinvar/347521 ^@ NM_152778.2(MFSD8):c.*2405G>A http://identifiers.org/clinvar/349054 ^@ NM_024592.4(SRD5A3):c.*2915A>G http://identifiers.org/clinvar/344544 ^@ NM_000461.4(THRB):c.*5122A>C http://identifiers.org/clinvar/344546 ^@ NM_000461.4(THRB):c.*4975G>C http://identifiers.org/clinvar/344551 ^@ NM_000461.4(THRB):c.*4796T>C http://identifiers.org/clinvar/344036 ^@ NM_001041.3(SI):c.2887A>C (p.Arg963=) http://identifiers.org/clinvar/344039 ^@ NM_001041.3(SI):c.2737-9dupT http://identifiers.org/clinvar/344043 ^@ NM_001041.3(SI):c.2566-11A>G http://identifiers.org/clinvar/344552 ^@ NM_000461.4(THRB):c.*4762G>A http://identifiers.org/clinvar/349062 ^@ NM_018475.4(TMEM165):c.-253C>T http://identifiers.org/clinvar/349070 ^@ NM_018475.4(TMEM165):c.*236A>G http://identifiers.org/clinvar/344553 ^@ NM_000461.4(THRB):c.*4611delA http://identifiers.org/clinvar/344567 ^@ NM_000461.4(THRB):c.*3906_*3910delAAAAA http://identifiers.org/clinvar/344570 ^@ NM_000461.4(THRB):c.*3906_*3910dupAAAAA http://identifiers.org/clinvar/344569 ^@ NM_000461.4(THRB):c.*3910delA http://identifiers.org/clinvar/344564 ^@ NM_000461.4(THRB):c.*3910dupA http://identifiers.org/clinvar/344572 ^@ NM_000461.4(THRB):c.*3880delC http://identifiers.org/clinvar/344054 ^@ NM_001041.3(SI):c.1437C>T (p.Asn479=) http://identifiers.org/clinvar/349071 ^@ NM_018475.4(TMEM165):c.*397G>A http://identifiers.org/clinvar/344057 ^@ NM_001041.3(SI):c.1311T>C (p.Asn437=) http://identifiers.org/clinvar/344063 ^@ NM_001041.3(SI):c.808-14T>A http://identifiers.org/clinvar/349073 ^@ NM_018475.4(TMEM165):c.*494T>C http://identifiers.org/clinvar/348976 ^@ NM_147127.4(EVC2):c.*384T>A http://identifiers.org/clinvar/344067 ^@ NM_001041.3(SI):c.636-14_636-10delCTTTT http://identifiers.org/clinvar/348977 ^@ NM_147127.4(EVC2):c.*141A>G http://identifiers.org/clinvar/348979 ^@ NM_147127.4(EVC2):c.*68T>C http://identifiers.org/clinvar/344578 ^@ NM_000461.4(THRB):c.*3292G>A http://identifiers.org/clinvar/348980 ^@ NM_147127.4(EVC2):c.3659+2T>C http://identifiers.org/clinvar/348982 ^@ NM_147127.4(EVC2):c.3505C>T (p.His1169Tyr) http://identifiers.org/clinvar/347523 ^@ NM_152778.2(MFSD8):c.*2270G>C http://identifiers.org/clinvar/344074 ^@ NM_001041.3(SI):c.118+10A>G http://identifiers.org/clinvar/344579 ^@ NM_000461.4(THRB):c.*3288C>T http://identifiers.org/clinvar/347526 ^@ NM_152778.2(MFSD8):c.*1603C>T http://identifiers.org/clinvar/344076 ^@ NM_001041.3(SI):c.16T>C (p.Phe6Leu) http://identifiers.org/clinvar/348983 ^@ NM_147127.4(EVC2):c.3413C>T (p.Thr1138Met) http://identifiers.org/clinvar/348984 ^@ NM_147127.4(EVC2):c.3272+8G>A http://identifiers.org/clinvar/344585 ^@ NM_000461.4(THRB):c.*2786G>T http://identifiers.org/clinvar/344587 ^@ NM_000461.4(THRB):c.*2637G>T http://identifiers.org/clinvar/344599 ^@ NM_000461.4(THRB):c.*2144G>C http://identifiers.org/clinvar/347531 ^@ NM_152778.2(MFSD8):c.*839C>A http://identifiers.org/clinvar/347537 ^@ NM_152778.2(MFSD8):c.*414C>A http://identifiers.org/clinvar/348985 ^@ NM_147127.4(EVC2):c.3272+7C>T http://identifiers.org/clinvar/347560 ^@ NM_031296.2(RAB33B):c.-36C>T http://identifiers.org/clinvar/344600 ^@ NM_000461.4(THRB):c.*2105T>G http://identifiers.org/clinvar/344078 ^@ NM_000055.3(BCHE):c.*400T>C http://identifiers.org/clinvar/348989 ^@ NM_147127.4(EVC2):c.3138C>G (p.Ser1046Arg) http://identifiers.org/clinvar/348990 ^@ NM_147127.4(EVC2):c.3091C>G (p.Gln1031Glu) http://identifiers.org/clinvar/344081 ^@ NM_000055.3(BCHE):c.*237A>G http://identifiers.org/clinvar/344085 ^@ NM_000055.3(BCHE):c.*139T>A http://identifiers.org/clinvar/344086 ^@ NM_000055.3(BCHE):c.*52A>G http://identifiers.org/clinvar/347563 ^@ NM_031296.2(RAB33B):c.249+10T>C http://identifiers.org/clinvar/347564 ^@ NM_031296.2(RAB33B):c.336C>T (p.Phe112=) http://identifiers.org/clinvar/347565 ^@ NM_031296.2(RAB33B):c.417T>G (p.Asn139Lys) http://identifiers.org/clinvar/344090 ^@ NM_000055.3(BCHE):c.1438A>G (p.Arg480Gly) http://identifiers.org/clinvar/347566 ^@ NM_031296.2(RAB33B):c.432T>C (p.Ile144=) http://identifiers.org/clinvar/347571 ^@ NM_031296.2(RAB33B):c.*254A>G http://identifiers.org/clinvar/344094 ^@ NM_000055.3(BCHE):c.1077C>T (p.Val359=) http://identifiers.org/clinvar/344095 ^@ NM_000055.3(BCHE):c.509T>C (p.Val170Ala) http://identifiers.org/clinvar/348996 ^@ NM_147127.4(EVC2):c.2829+9A>C http://identifiers.org/clinvar/347572 ^@ NM_031296.2(RAB33B):c.*494A>C http://identifiers.org/clinvar/348997 ^@ NM_147127.4(EVC2):c.2732G>A (p.Arg911Gln) http://identifiers.org/clinvar/349056 ^@ NM_147127.4(EVC2):c.2416G>A (p.Val806Met) http://identifiers.org/clinvar/347573 ^@ NM_031296.2(RAB33B):c.*543C>T http://identifiers.org/clinvar/349058 ^@ NM_147127.4(EVC2):c.2394G>A (p.Arg798=) http://identifiers.org/clinvar/347587 ^@ NM_031296.2(RAB33B):c.*1976A>G http://identifiers.org/clinvar/347591 ^@ NM_031296.2(RAB33B):c.*2327G>A http://identifiers.org/clinvar/347593 ^@ NM_031296.2(RAB33B):c.*2651C>A http://identifiers.org/clinvar/344603 ^@ NM_000461.4(THRB):c.*1905A>G http://identifiers.org/clinvar/349064 ^@ NM_147127.4(EVC2):c.2039T>C (p.Leu680Pro) http://identifiers.org/clinvar/344610 ^@ NM_000461.4(THRB):c.*1561T>G http://identifiers.org/clinvar/349082 ^@ NM_147127.4(EVC2):c.1666C>T (p.Pro556Ser) http://identifiers.org/clinvar/344102 ^@ NM_145860.1(PDCD10):c.*285G>T http://identifiers.org/clinvar/344110 ^@ NM_145860.1(PDCD10):c.151-11C>T http://identifiers.org/clinvar/347595 ^@ NM_172250.2(MMAA):c.-68C>T http://identifiers.org/clinvar/347596 ^@ NM_172250.2(MMAA):c.-66+10G>C http://identifiers.org/clinvar/344118 ^@ NM_005025.4(SERPINI1):c.21C>G (p.Phe7Leu) http://identifiers.org/clinvar/349084 ^@ NM_147127.4(EVC2):c.1498C>A (p.Arg500=) http://identifiers.org/clinvar/349087 ^@ NM_147127.4(EVC2):c.1311A>G (p.Leu437=) http://identifiers.org/clinvar/347602 ^@ NM_172250.2(MMAA):c.862G>A (p.Val288Ile) http://identifiers.org/clinvar/347605 ^@ NM_172250.2(MMAA):c.977G>A (p.Arg326His) http://identifiers.org/clinvar/347612 ^@ NM_172250.2(MMAA):c.*188A>G http://identifiers.org/clinvar/344129 ^@ NM_005025.4(SERPINI1):c.518A>G (p.Asp173Gly) http://identifiers.org/clinvar/347619 ^@ NM_172250.2(MMAA):c.*541A>G http://identifiers.org/clinvar/347622 ^@ NM_172250.2(MMAA):c.*703C>T http://identifiers.org/clinvar/347623 ^@ NM_172250.2(MMAA):c.*890G>A http://identifiers.org/clinvar/349114 ^@ NM_006947.3(SRP72):c.21G>T (p.Gly7=) http://identifiers.org/clinvar/347631 ^@ NM_172250.2(MMAA):c.*1838G>A http://identifiers.org/clinvar/344130 ^@ NM_005025.4(SERPINI1):c.576G>A (p.Ser192=) http://identifiers.org/clinvar/349124 ^@ NM_006947.3(SRP72):c.973A>G (p.Lys325Glu) http://identifiers.org/clinvar/349137 ^@ NM_006947.3(SRP72):c.*127_*128delGT http://identifiers.org/clinvar/344613 ^@ NM_000461.4(THRB):c.*1354A>G http://identifiers.org/clinvar/344133 ^@ NM_005025.4(SERPINI1):c.1183A>G (p.Met395Val) http://identifiers.org/clinvar/344138 ^@ NM_000340.1(SLC2A2):c.*1222T>A http://identifiers.org/clinvar/344614 ^@ NM_000461.4(THRB):c.*1334C>T http://identifiers.org/clinvar/344140 ^@ NM_000340.1(SLC2A2):c.*1086G>A http://identifiers.org/clinvar/344145 ^@ NM_000340.1(SLC2A2):c.*726T>C http://identifiers.org/clinvar/344146 ^@ NM_000340.1(SLC2A2):c.*725G>C http://identifiers.org/clinvar/347635 ^@ NM_172250.2(MMAA):c.*1952dupT http://identifiers.org/clinvar/344149 ^@ NM_000340.1(SLC2A2):c.*486T>C http://identifiers.org/clinvar/349145 ^@ NM_006947.3(SRP72):c.*407T>C http://identifiers.org/clinvar/349152 ^@ NM_006947.3(SRP72):c.*647_*652dupTATATA http://identifiers.org/clinvar/344154 ^@ NM_000340.1(SLC2A2):c.*234C>A http://identifiers.org/clinvar/344158 ^@ NM_000340.1(SLC2A2):c.*7_*8dupAA http://identifiers.org/clinvar/344159 ^@ NM_000340.1(SLC2A2):c.1432C>G (p.Leu478Val) http://identifiers.org/clinvar/344161 ^@ NM_000340.1(SLC2A2):c.1295G>A (p.Arg432His) http://identifiers.org/clinvar/349155 ^@ NM_006947.3(SRP72):c.*732A>G http://identifiers.org/clinvar/344615 ^@ NM_000461.4(THRB):c.*1284A>C http://identifiers.org/clinvar/344617 ^@ NM_000461.4(THRB):c.*1153C>G http://identifiers.org/clinvar/349157 ^@ NM_006947.3(SRP72):c.*839T>C http://identifiers.org/clinvar/349161 ^@ NM_006947.3(SRP72):c.*1603A>G http://identifiers.org/clinvar/349163 ^@ NM_006947.3(SRP72):c.*1764A>G http://identifiers.org/clinvar/344165 ^@ NM_000340.1(SLC2A2):c.639C>T (p.Gly213=) http://identifiers.org/clinvar/344169 ^@ NM_000340.1(SLC2A2):c.206C>A (p.Thr69Lys) http://identifiers.org/clinvar/347641 ^@ NM_172250.2(MMAA):c.*2364A>G http://identifiers.org/clinvar/349097 ^@ NM_147127.4(EVC2):c.446G>A (p.Arg149His) http://identifiers.org/clinvar/347644 ^@ NM_172250.2(MMAA):c.*2445A>C http://identifiers.org/clinvar/349098 ^@ NM_147127.4(EVC2):c.307T>C (p.Leu103=) http://identifiers.org/clinvar/347657 ^@ NM_172250.2(MMAA):c.*3035A>C http://identifiers.org/clinvar/349099 ^@ NM_147127.4(EVC2):c.299G>A (p.Gly100Glu) http://identifiers.org/clinvar/347667 ^@ NM_172250.2(MMAA):c.*3824C>A http://identifiers.org/clinvar/347671 ^@ NM_172250.2(MMAA):c.*4336A>G http://identifiers.org/clinvar/349101 ^@ NM_153717.2(EVC):c.-139G>A http://identifiers.org/clinvar/344171 ^@ NM_000340.1(SLC2A2):c.-48G>A http://identifiers.org/clinvar/344619 ^@ NM_000461.4(THRB):c.*1102G>A http://identifiers.org/clinvar/349102 ^@ NM_153717.2(EVC):c.-136_-135delGA http://identifiers.org/clinvar/349105 ^@ NM_153717.2(EVC):c.105C>A (p.Gly35=) http://identifiers.org/clinvar/344625 ^@ NM_000461.4(THRB):c.*602G>C http://identifiers.org/clinvar/344629 ^@ NM_000461.4(THRB):c.*454T>G http://identifiers.org/clinvar/344633 ^@ NM_000461.4(THRB):c.*243G>A http://identifiers.org/clinvar/349111 ^@ NM_153717.2(EVC):c.612C>T (p.Cys204=) http://identifiers.org/clinvar/349168 ^@ NM_153717.2(EVC):c.934G>A (p.Asp312Asn) http://identifiers.org/clinvar/344637 ^@ NM_000461.4(THRB):c.213C>A (p.Asp71Glu) http://identifiers.org/clinvar/344187 ^@ NM_198407.2(GHSR):c.*829C>A http://identifiers.org/clinvar/349177 ^@ NM_153717.2(EVC):c.1428G>C (p.Glu476Asp) http://identifiers.org/clinvar/344638 ^@ NM_000461.4(THRB):c.182C>A (p.Thr61Asn) http://identifiers.org/clinvar/349178 ^@ NM_153717.2(EVC):c.1462G>A (p.Glu488Lys) http://identifiers.org/clinvar/344639 ^@ NM_000461.4(THRB):c.126T>C (p.His42=) http://identifiers.org/clinvar/349187 ^@ NM_153717.2(EVC):c.1818A>C (p.Thr606=) http://identifiers.org/clinvar/349188 ^@ NM_153717.2(EVC):c.1821C>G (p.His607Gln) http://identifiers.org/clinvar/344640 ^@ NM_000461.4(THRB):c.-42-9dupT http://identifiers.org/clinvar/344644 ^@ NM_000461.4(THRB):c.-237_-236delGA http://identifiers.org/clinvar/344645 ^@ NM_000461.4(THRB):c.-247T>C http://identifiers.org/clinvar/347676 ^@ NM_000901.4(NR3C2):c.*2368C>A http://identifiers.org/clinvar/347680 ^@ NM_000901.4(NR3C2):c.*2065A>C http://identifiers.org/clinvar/344647 ^@ NM_003242.5(TGFBR2):c.-344C>A http://identifiers.org/clinvar/347681 ^@ NM_000901.4(NR3C2):c.*1905_*1907dupTTA http://identifiers.org/clinvar/347684 ^@ NM_000901.4(NR3C2):c.*1774A>G http://identifiers.org/clinvar/344192 ^@ NM_198407.2(GHSR):c.*561_*568delTTACAGAA http://identifiers.org/clinvar/349197 ^@ NM_153717.2(EVC):c.2278C>T (p.Arg760Trp) http://identifiers.org/clinvar/344194 ^@ NM_198407.2(GHSR):c.*300G>A http://identifiers.org/clinvar/344657 ^@ NM_003242.5(TGFBR2):c.621G>A (p.Arg207=) http://identifiers.org/clinvar/344660 ^@ NM_003242.5(TGFBR2):c.736C>T (p.Leu246=) http://identifiers.org/clinvar/344664 ^@ NM_003242.5(TGFBR2):c.*33A>G http://identifiers.org/clinvar/344667 ^@ NM_003242.5(TGFBR2):c.*149A>T http://identifiers.org/clinvar/344668 ^@ NM_003242.5(TGFBR2):c.*226C>A http://identifiers.org/clinvar/344673 ^@ NM_003242.5(TGFBR2):c.*330C>A http://identifiers.org/clinvar/344672 ^@ NM_003242.5(TGFBR2):c.*330_*331delCT http://identifiers.org/clinvar/344675 ^@ NM_003242.5(TGFBR2):c.*443A>G http://identifiers.org/clinvar/344678 ^@ NM_003242.5(TGFBR2):c.*704A>G http://identifiers.org/clinvar/344679 ^@ NM_003242.5(TGFBR2):c.*713G>T http://identifiers.org/clinvar/349200 ^@ NM_153717.2(EVC):c.2363G>A (p.Arg788His) http://identifiers.org/clinvar/344680 ^@ NM_003242.5(TGFBR2):c.*742C>T http://identifiers.org/clinvar/349210 ^@ NM_153717.2(EVC):c.2869G>A (p.Gly957Arg) http://identifiers.org/clinvar/344681 ^@ NM_003242.5(TGFBR2):c.*747C>G http://identifiers.org/clinvar/344682 ^@ NM_003242.5(TGFBR2):c.*793G>T http://identifiers.org/clinvar/344685 ^@ NM_003242.5(TGFBR2):c.*848C>T http://identifiers.org/clinvar/344687 ^@ NM_003242.5(TGFBR2):c.*859G>A http://identifiers.org/clinvar/344697 ^@ NM_003242.5(TGFBR2):c.*1507A>G http://identifiers.org/clinvar/344703 ^@ NM_003242.5(TGFBR2):c.*1833A>C http://identifiers.org/clinvar/344704 ^@ NM_003242.5(TGFBR2):c.*1842G>T http://identifiers.org/clinvar/344707 ^@ NM_003242.5(TGFBR2):c.*1880G>A http://identifiers.org/clinvar/349220 ^@ NM_153717.2(EVC):c.*254G>A http://identifiers.org/clinvar/349225 ^@ NM_153717.2(EVC):c.*492G>A http://identifiers.org/clinvar/344708 ^@ NM_003242.5(TGFBR2):c.*1886G>T http://identifiers.org/clinvar/344710 ^@ NM_003242.5(TGFBR2):c.*1998G>A http://identifiers.org/clinvar/347691 ^@ NM_000901.4(NR3C2):c.*1493C>T http://identifiers.org/clinvar/349228 ^@ NM_153717.2(EVC):c.*704_*705insTT http://identifiers.org/clinvar/349232 ^@ NM_153717.2(EVC):c.*877C>T http://identifiers.org/clinvar/347692 ^@ NM_000901.4(NR3C2):c.*1475T>G http://identifiers.org/clinvar/347703 ^@ NM_000901.4(NR3C2):c.*1121T>C http://identifiers.org/clinvar/347704 ^@ NM_000901.4(NR3C2):c.*1032G>C http://identifiers.org/clinvar/347705 ^@ NM_000901.4(NR3C2):c.*1032G>A http://identifiers.org/clinvar/349235 ^@ NM_153717.2(EVC):c.*922G>A http://identifiers.org/clinvar/347715 ^@ NM_000901.4(NR3C2):c.*324C>T http://identifiers.org/clinvar/344205 ^@ NM_031955.5(SPATA16):c.1513C>T (p.Leu505=) http://identifiers.org/clinvar/344208 ^@ NM_031955.5(SPATA16):c.1324A>G (p.Ser442Gly) http://identifiers.org/clinvar/344211 ^@ NM_031955.5(SPATA16):c.995C>T (p.Ala332Val) http://identifiers.org/clinvar/347716 ^@ NM_000901.4(NR3C2):c.*86T>C http://identifiers.org/clinvar/344216 ^@ NM_031955.5(SPATA16):c.675C>T (p.Ser225=) http://identifiers.org/clinvar/349236 ^@ NM_153717.2(EVC):c.*931T>C http://identifiers.org/clinvar/344222 ^@ NM_031955.5(SPATA16):c.328A>C (p.Met110Leu) http://identifiers.org/clinvar/344234 ^@ NM_181426.1(CCDC39):c.*841C>T http://identifiers.org/clinvar/349237 ^@ NM_153717.2(EVC):c.*1060A>C http://identifiers.org/clinvar/344236 ^@ NM_181426.1(CCDC39):c.*791C>T http://identifiers.org/clinvar/344712 ^@ NM_003242.5(TGFBR2):c.*2066G>A http://identifiers.org/clinvar/344238 ^@ NM_181426.1(CCDC39):c.*660A>G http://identifiers.org/clinvar/344239 ^@ NM_181426.1(CCDC39):c.*643C>T http://identifiers.org/clinvar/347717 ^@ NM_000901.4(NR3C2):c.*6C>T http://identifiers.org/clinvar/347721 ^@ NM_000901.4(NR3C2):c.2312G>A (p.Arg771His) http://identifiers.org/clinvar/344243 ^@ NM_181426.1(CCDC39):c.*545C>A http://identifiers.org/clinvar/344713 ^@ NM_003242.5(TGFBR2):c.*2085T>A http://identifiers.org/clinvar/344246 ^@ NM_181426.1(CCDC39):c.*530_*532dupCCC http://identifiers.org/clinvar/344722 ^@ NM_015141.3(GPD1L):c.-132G>A http://identifiers.org/clinvar/344724 ^@ NM_015141.3(GPD1L):c.367-10A>T http://identifiers.org/clinvar/347723 ^@ NM_000901.4(NR3C2):c.2126C>T (p.Thr709Met) http://identifiers.org/clinvar/349240 ^@ NM_153717.2(EVC):c.*1176C>A http://identifiers.org/clinvar/347735 ^@ NM_000901.4(NR3C2):c.739A>T (p.Arg247Trp) http://identifiers.org/clinvar/344725 ^@ NM_015141.3(GPD1L):c.372A>G (p.Ile124Met) http://identifiers.org/clinvar/344249 ^@ NM_181426.1(CCDC39):c.*529dupA http://identifiers.org/clinvar/344251 ^@ NM_181426.1(CCDC39):c.*478G>A http://identifiers.org/clinvar/344726 ^@ NM_015141.3(GPD1L):c.518T>C (p.Met173Thr) http://identifiers.org/clinvar/349243 ^@ NM_153717.2(EVC):c.*1248T>G http://identifiers.org/clinvar/344731 ^@ NM_015141.3(GPD1L):c.*60C>T http://identifiers.org/clinvar/349244 ^@ NM_153717.2(EVC):c.*1318G>C http://identifiers.org/clinvar/344252 ^@ NM_181426.1(CCDC39):c.*373G>A http://identifiers.org/clinvar/349245 ^@ NM_153717.2(EVC):c.*1374G>C http://identifiers.org/clinvar/349246 ^@ NM_153717.2(EVC):c.*1375A>G http://identifiers.org/clinvar/347741 ^@ NM_000901.4(NR3C2):c.-14C>G http://identifiers.org/clinvar/344255 ^@ NM_181426.1(CCDC39):c.*161T>A http://identifiers.org/clinvar/347742 ^@ NM_000901.4(NR3C2):c.-111C>T http://identifiers.org/clinvar/344256 ^@ NM_181426.1(CCDC39):c.*157T>C http://identifiers.org/clinvar/344735 ^@ NM_015141.3(GPD1L):c.*300C>A http://identifiers.org/clinvar/344740 ^@ NM_015141.3(GPD1L):c.*571C>T http://identifiers.org/clinvar/349254 ^@ NM_153717.2(EVC):c.*1592C>T http://identifiers.org/clinvar/349259 ^@ NM_153717.2(EVC):c.*1849C>G http://identifiers.org/clinvar/347746 ^@ NM_000901.4(NR3C2):c.-266_-261delTGCCCC http://identifiers.org/clinvar/347771 ^@ NM_005141.4(FGB):c.291C>T (p.His97=) http://identifiers.org/clinvar/347776 ^@ NM_005141.4(FGB):c.1244+7G>A http://identifiers.org/clinvar/347777 ^@ NM_005141.4(FGB):c.*15A>G http://identifiers.org/clinvar/347781 ^@ NM_005141.4(FGB):c.*373G>A http://identifiers.org/clinvar/344260 ^@ NM_181426.1(CCDC39):c.2715A>G (p.Lys905=) http://identifiers.org/clinvar/347782 ^@ NM_005141.4(FGB):c.*422A>C http://identifiers.org/clinvar/349262 ^@ NM_153717.2(EVC):c.*2009T>C http://identifiers.org/clinvar/344742 ^@ NM_015141.3(GPD1L):c.*719A>C http://identifiers.org/clinvar/349271 ^@ NM_153717.2(EVC):c.*2361C>T http://identifiers.org/clinvar/349274 ^@ NM_153717.2(EVC):c.*2490C>T http://identifiers.org/clinvar/344744 ^@ NM_015141.3(GPD1L):c.*912G>A http://identifiers.org/clinvar/347790 ^@ NM_005141.4(FGB):c.*835delG http://identifiers.org/clinvar/347792 ^@ NM_005141.4(FGB):c.*1369G>A http://identifiers.org/clinvar/344759 ^@ NM_015141.3(GPD1L):c.*1473T>G http://identifiers.org/clinvar/344760 ^@ NM_015141.3(GPD1L):c.*1506C>T http://identifiers.org/clinvar/344762 ^@ NM_015141.3(GPD1L):c.*1760A>G http://identifiers.org/clinvar/344767 ^@ NM_015141.3(GPD1L):c.*2157C>T http://identifiers.org/clinvar/349275 ^@ NM_153717.2(EVC):c.*2493A>G http://identifiers.org/clinvar/349281 ^@ NM_153717.2(EVC):c.*2871C>T http://identifiers.org/clinvar/344263 ^@ NM_181426.1(CCDC39):c.1960G>A (p.Gly654Arg) http://identifiers.org/clinvar/349297 ^@ NM_006005.3(WFS1):c.-129A>G http://identifiers.org/clinvar/344265 ^@ NM_181426.1(CCDC39):c.1818T>C (p.His606=) http://identifiers.org/clinvar/347797 ^@ NM_005141.4(FGB):c.*1542T>C http://identifiers.org/clinvar/349300 ^@ NM_006005.3(WFS1):c.-100C>G http://identifiers.org/clinvar/349327 ^@ NM_006005.3(WFS1):c.2436C>T (p.Ser812=) http://identifiers.org/clinvar/344266 ^@ NM_181426.1(CCDC39):c.1728C>T (p.His576=) http://identifiers.org/clinvar/344768 ^@ NM_015141.3(GPD1L):c.*2158G>A http://identifiers.org/clinvar/344775 ^@ NM_015141.3(GPD1L):c.*2793C>T http://identifiers.org/clinvar/347803 ^@ NM_005141.4(FGB):c.*1771C>T http://identifiers.org/clinvar/347809 ^@ NM_021871.3(FGA):c.1542T>C (p.Pro514=) http://identifiers.org/clinvar/347812 ^@ NM_021871.3(FGA):c.1199C>T (p.Ser400Phe) http://identifiers.org/clinvar/347820 ^@ NM_021871.3(FGA):c.450G>A (p.Gln150=) http://identifiers.org/clinvar/347826 ^@ NM_000509.5(FGG):c.1285G>T (p.Gly429Trp) http://identifiers.org/clinvar/347828 ^@ NM_000509.5(FGG):c.667-10G>C http://identifiers.org/clinvar/349329 ^@ NM_006005.3(WFS1):c.2481C>T (p.Thr827=) http://identifiers.org/clinvar/344270 ^@ NM_181426.1(CCDC39):c.1359C>A (p.Ser453Arg) http://identifiers.org/clinvar/349333 ^@ NM_006005.3(WFS1):c.*54A>G http://identifiers.org/clinvar/347829 ^@ NM_000509.5(FGG):c.502A>G (p.Thr168Ala) http://identifiers.org/clinvar/344776 ^@ NM_000404.3(GLB1):c.*423A>G http://identifiers.org/clinvar/344789 ^@ NM_000404.3(GLB1):c.1347+10G>A http://identifiers.org/clinvar/344795 ^@ NM_000404.3(GLB1):c.234C>T (p.Asn78=) http://identifiers.org/clinvar/347834 ^@ NM_000509.5(FGG):c.-53A>G http://identifiers.org/clinvar/347845 ^@ NM_004744.4(LRAT):c.-115C>G http://identifiers.org/clinvar/349337 ^@ NM_006005.3(WFS1):c.*149G>A http://identifiers.org/clinvar/347849 ^@ NM_004744.4(LRAT):c.244A>G (p.Thr82Ala) http://identifiers.org/clinvar/347855 ^@ NM_004744.4(LRAT):c.*313delT http://identifiers.org/clinvar/344799 ^@ NM_000404.3(GLB1):c.-37C>G http://identifiers.org/clinvar/349339 ^@ NM_006005.3(WFS1):c.*242G>C http://identifiers.org/clinvar/349340 ^@ NM_006005.3(WFS1):c.*253G>A http://identifiers.org/clinvar/344800 ^@ NM_000404.3(GLB1):c.-73C>T http://identifiers.org/clinvar/344809 ^@ NM_006371.4(CRTAP):c.634C>T (p.Arg212Ter) http://identifiers.org/clinvar/344814 ^@ NM_006371.4(CRTAP):c.1068+11T>C http://identifiers.org/clinvar/344272 ^@ NM_181426.1(CCDC39):c.1102A>G (p.Met368Val) http://identifiers.org/clinvar/344816 ^@ NM_006371.4(CRTAP):c.*225G>C http://identifiers.org/clinvar/349346 ^@ NM_006005.3(WFS1):c.*365_*368delCTTT http://identifiers.org/clinvar/344817 ^@ NM_006371.4(CRTAP):c.*238G>A http://identifiers.org/clinvar/344273 ^@ NM_181426.1(CCDC39):c.1034+11A>G http://identifiers.org/clinvar/344288 ^@ NM_145261.3(DNAJC19):c.*542_*543dupGT http://identifiers.org/clinvar/344818 ^@ NM_006371.4(CRTAP):c.*269C>T http://identifiers.org/clinvar/349359 ^@ NM_006005.3(WFS1):c.*683C>T http://identifiers.org/clinvar/344823 ^@ NM_006371.4(CRTAP):c.*608G>A http://identifiers.org/clinvar/347862 ^@ NM_004744.4(LRAT):c.*826C>T http://identifiers.org/clinvar/349358 ^@ NM_006005.3(WFS1):c.*683delCinsTGGCTGTGGGGGA http://identifiers.org/clinvar/344824 ^@ NM_006371.4(CRTAP):c.*670G>A http://identifiers.org/clinvar/344290 ^@ NM_145261.3(DNAJC19):c.*488G>C http://identifiers.org/clinvar/344295 ^@ NM_145261.3(DNAJC19):c.*194_*197delATTA http://identifiers.org/clinvar/344834 ^@ NM_006371.4(CRTAP):c.*1254C>A http://identifiers.org/clinvar/349366 ^@ NM_000283.3(PDE6B):c.926G>A (p.Arg309Gln) http://identifiers.org/clinvar/349371 ^@ NM_000283.3(PDE6B):c.1083C>T (p.Ser361=) http://identifiers.org/clinvar/349375 ^@ NM_000283.3(PDE6B):c.1297G>A (p.Asp433Asn) http://identifiers.org/clinvar/347873 ^@ NM_004744.4(LRAT):c.*2453C>A http://identifiers.org/clinvar/347875 ^@ NM_004744.4(LRAT):c.*2467C>G http://identifiers.org/clinvar/347883 ^@ NM_004744.4(LRAT):c.*3435A>C http://identifiers.org/clinvar/347885 ^@ NM_004744.4(LRAT):c.*3618G>A http://identifiers.org/clinvar/347753 ^@ NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) http://identifiers.org/clinvar/344302 ^@ NM_020166.4(MCCC1):c.2171C>T (p.Ser724Leu) http://identifiers.org/clinvar/349380 ^@ NM_000283.3(PDE6B):c.1590C>T (p.Val530=) http://identifiers.org/clinvar/349392 ^@ NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) http://identifiers.org/clinvar/349393 ^@ NM_000283.3(PDE6B):c.2331C>T (p.Phe777=) http://identifiers.org/clinvar/349401 ^@ NM_000283.3(PDE6B):c.*20C>A http://identifiers.org/clinvar/344843 ^@ NM_006371.4(CRTAP):c.*1858T>A http://identifiers.org/clinvar/344845 ^@ NM_006371.4(CRTAP):c.*2146C>A http://identifiers.org/clinvar/347760 ^@ NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) http://identifiers.org/clinvar/349407 ^@ NM_000283.3(PDE6B):c.*279G>A http://identifiers.org/clinvar/349409 ^@ NM_000283.3(PDE6B):c.*390T>C http://identifiers.org/clinvar/344846 ^@ NM_006371.4(CRTAP):c.*2146C>T http://identifiers.org/clinvar/344848 ^@ NM_006371.4(CRTAP):c.*2218C>T http://identifiers.org/clinvar/344855 ^@ NM_006371.4(CRTAP):c.*2901G>C http://identifiers.org/clinvar/349419 ^@ NM_000406.2(GNRHR):c.*2802T>C http://identifiers.org/clinvar/347761 ^@ NM_001080522.2(CC2D2A):c.1946C>G (p.Thr649Arg) http://identifiers.org/clinvar/344860 ^@ NM_006371.4(CRTAP):c.*3061C>G http://identifiers.org/clinvar/349420 ^@ NM_000406.2(GNRHR):c.*2663G>T http://identifiers.org/clinvar/349425 ^@ NM_000406.2(GNRHR):c.*2055G>A http://identifiers.org/clinvar/344309 ^@ NM_020166.4(MCCC1):c.994T>G (p.Cys332Gly) http://identifiers.org/clinvar/344310 ^@ NM_020166.4(MCCC1):c.768A>G (p.Val256=) http://identifiers.org/clinvar/344312 ^@ NM_020166.4(MCCC1):c.640_641delGG (p.Gly214Asnfs) http://identifiers.org/clinvar/344866 ^@ NM_006371.4(CRTAP):c.*3224T>C http://identifiers.org/clinvar/344314 ^@ NM_020166.4(MCCC1):c.623G>A (p.Arg208Gln) http://identifiers.org/clinvar/344320 ^@ NM_020166.4(MCCC1):c.-102C>A http://identifiers.org/clinvar/347764 ^@ NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) http://identifiers.org/clinvar/344324 ^@ NM_003907.2(EIF2B5):c.-155T>C http://identifiers.org/clinvar/347837 ^@ NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) http://identifiers.org/clinvar/349426 ^@ NM_000406.2(GNRHR):c.*2032dupA http://identifiers.org/clinvar/347844 ^@ NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) http://identifiers.org/clinvar/344329 ^@ NM_003907.2(EIF2B5):c.115C>G (p.Pro39Ala) http://identifiers.org/clinvar/349429 ^@ NM_000406.2(GNRHR):c.*1948C>T http://identifiers.org/clinvar/349431 ^@ NM_000406.2(GNRHR):c.*1891T>G http://identifiers.org/clinvar/344330 ^@ NM_003907.2(EIF2B5):c.182A>G (p.Lys61Arg) http://identifiers.org/clinvar/344873 ^@ NM_006371.4(CRTAP):c.*3731C>T http://identifiers.org/clinvar/347900 ^@ NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) http://identifiers.org/clinvar/347903 ^@ NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) http://identifiers.org/clinvar/344874 ^@ NM_006371.4(CRTAP):c.*3793C>T http://identifiers.org/clinvar/349439 ^@ NM_000406.2(GNRHR):c.*1155delA http://identifiers.org/clinvar/344879 ^@ NM_006371.4(CRTAP):c.*4129T>C http://identifiers.org/clinvar/349450 ^@ NM_000406.2(GNRHR):c.*495T>C http://identifiers.org/clinvar/344885 ^@ NM_006371.4(CRTAP):c.*4568C>T http://identifiers.org/clinvar/344902 ^@ NM_000249.3(MLH1):c.-114T>C http://identifiers.org/clinvar/347915 ^@ NM_000824.4(GLRB):c.122+4T>A http://identifiers.org/clinvar/347918 ^@ NM_000824.4(GLRB):c.527+7T>C http://identifiers.org/clinvar/349458 ^@ NM_000406.2(GNRHR):c.31C>A (p.Gln11Lys) http://identifiers.org/clinvar/344909 ^@ NM_000249.3(MLH1):c.1731+11A>T http://identifiers.org/clinvar/349459 ^@ NM_000406.2(GNRHR):c.-107C>T http://identifiers.org/clinvar/349462 ^@ NM_000406.2(GNRHR):c.-541G>A http://identifiers.org/clinvar/349465 ^@ NM_000406.2(GNRHR):c.-721A>G http://identifiers.org/clinvar/344912 ^@ NM_001106.3(ACVR2B):c.147C>T (p.Cys49=) http://identifiers.org/clinvar/344916 ^@ NM_001106.3(ACVR2B):c.546C>T (p.Ser182=) http://identifiers.org/clinvar/344917 ^@ NM_001106.3(ACVR2B):c.811-3C>T http://identifiers.org/clinvar/344921 ^@ NM_001106.3(ACVR2B):c.*15T>C http://identifiers.org/clinvar/347919 ^@ NM_000824.4(GLRB):c.611-14G>A http://identifiers.org/clinvar/347920 ^@ NM_000824.4(GLRB):c.692T>C (p.Phe231Ser) http://identifiers.org/clinvar/347921 ^@ NM_000824.4(GLRB):c.822C>T (p.Tyr274=) http://identifiers.org/clinvar/347925 ^@ NM_000824.4(GLRB):c.952G>A (p.Ala318Thr) http://identifiers.org/clinvar/347931 ^@ NM_000824.4(GLRB):c.*139G>A http://identifiers.org/clinvar/344331 ^@ NM_003907.2(EIF2B5):c.216T>C (p.Asn72=) http://identifiers.org/clinvar/347935 ^@ NM_000824.4(GLRB):c.*301C>T http://identifiers.org/clinvar/347938 ^@ NM_000824.4(GLRB):c.*505T>A http://identifiers.org/clinvar/344928 ^@ NM_001106.3(ACVR2B):c.*346_*349delTTGT http://identifiers.org/clinvar/349469 ^@ NM_000406.2(GNRHR):c.-922A>G http://identifiers.org/clinvar/344932 ^@ NM_001106.3(ACVR2B):c.*483C>T http://identifiers.org/clinvar/347941 ^@ NM_000824.4(GLRB):c.*575T>C http://identifiers.org/clinvar/349479 ^@ NM_000406.2(GNRHR):c.-1311A>G http://identifiers.org/clinvar/347944 ^@ NM_000824.4(GLRB):c.*903T>C http://identifiers.org/clinvar/347946 ^@ NM_000824.4(GLRB):c.*1013A>T http://identifiers.org/clinvar/347947 ^@ NM_000824.4(GLRB):c.*1040A>G http://identifiers.org/clinvar/344936 ^@ NM_001106.3(ACVR2B):c.*696G>A http://identifiers.org/clinvar/347951 ^@ NM_004453.3(ETFDH):c.-315G>A http://identifiers.org/clinvar/347959 ^@ NM_004453.3(ETFDH):c.1590A>G (p.Glu530=) http://identifiers.org/clinvar/344332 ^@ NM_003907.2(EIF2B5):c.299C>T (p.Ala100Val) http://identifiers.org/clinvar/347965 ^@ NM_006017.2(PROM1):c.*1052G>A http://identifiers.org/clinvar/344334 ^@ NM_003907.2(EIF2B5):c.1159G>C (p.Asp387His) http://identifiers.org/clinvar/344939 ^@ NM_001106.3(ACVR2B):c.*911C>T http://identifiers.org/clinvar/344942 ^@ NM_001106.3(ACVR2B):c.*1251C>T http://identifiers.org/clinvar/344338 ^@ NM_003907.2(EIF2B5):c.2002A>G (p.Met668Val) http://identifiers.org/clinvar/349484 ^@ NM_000406.2(GNRHR):c.-1563T>C http://identifiers.org/clinvar/349486 ^@ NM_000406.2(GNRHR):c.-1636T>C http://identifiers.org/clinvar/344342 ^@ NM_003907.2(EIF2B5):c.*192G>A http://identifiers.org/clinvar/344346 ^@ NM_005787.5(ALG3):c.1156T>C (p.Leu386=) http://identifiers.org/clinvar/344352 ^@ NM_005787.5(ALG3):c.845C>T (p.Ala282Val) http://identifiers.org/clinvar/344945 ^@ NM_001106.3(ACVR2B):c.*1376G>A http://identifiers.org/clinvar/344356 ^@ NM_005787.5(ALG3):c.578G>A (p.Arg193His) http://identifiers.org/clinvar/344361 ^@ NM_005787.5(ALG3):c.51A>G (p.Ala17=) http://identifiers.org/clinvar/344364 ^@ NM_005787.5(ALG3):c.-26G>C http://identifiers.org/clinvar/344374 ^@ NM_000460.3(THPO):c.-56G>A http://identifiers.org/clinvar/349492 ^@ NM_031889.2(ENAM):c.-25G>A http://identifiers.org/clinvar/344947 ^@ NM_001106.3(ACVR2B):c.*1544C>T http://identifiers.org/clinvar/347967 ^@ NM_006017.2(PROM1):c.*684C>T http://identifiers.org/clinvar/349494 ^@ NM_031889.2(ENAM):c.871C>T (p.Pro291Ser) http://identifiers.org/clinvar/347972 ^@ NM_006017.2(PROM1):c.2551G>A (p.Val851Ile) http://identifiers.org/clinvar/347976 ^@ NM_006017.2(PROM1):c.2373+13C>G http://identifiers.org/clinvar/347979 ^@ NM_006017.2(PROM1):c.2284A>G (p.Ser762Gly) http://identifiers.org/clinvar/347983 ^@ NM_006017.2(PROM1):c.1954T>G (p.Tyr652Asp) http://identifiers.org/clinvar/347985 ^@ NM_006017.2(PROM1):c.1871G>A (p.Cys624Tyr) http://identifiers.org/clinvar/347992 ^@ NM_006017.2(PROM1):c.1377C>T (p.Gly459=) http://identifiers.org/clinvar/349519 ^@ NM_031889.2(ENAM):c.*605T>C http://identifiers.org/clinvar/347995 ^@ NM_006017.2(PROM1):c.1271T>C (p.Leu424Ser) http://identifiers.org/clinvar/349522 ^@ NM_031889.2(ENAM):c.*1078dupC http://identifiers.org/clinvar/348005 ^@ NM_006017.2(PROM1):c.631-14T>C http://identifiers.org/clinvar/348010 ^@ NM_006017.2(PROM1):c.155T>C (p.Ile52Thr) http://identifiers.org/clinvar/348011 ^@ NM_006017.2(PROM1):c.105A>G (p.Glu35=) http://identifiers.org/clinvar/348015 ^@ NM_006017.2(PROM1):c.-148G>A http://identifiers.org/clinvar/348016 ^@ NM_006017.2(PROM1):c.-168G>A http://identifiers.org/clinvar/348019 ^@ NM_001166108.1(PALLD):c.-172C>A http://identifiers.org/clinvar/348023 ^@ NM_001166108.1(PALLD):c.-83+9G>A http://identifiers.org/clinvar/348028 ^@ NM_001166108.1(PALLD):c.365C>T (p.Pro122Leu) http://identifiers.org/clinvar/349533 ^@ NM_003759.3(SLC4A4):c.258-11C>T http://identifiers.org/clinvar/348038 ^@ NM_001166108.1(PALLD):c.1386C>T (p.Cys462=) http://identifiers.org/clinvar/344949 ^@ NM_001106.3(ACVR2B):c.*1613C>T http://identifiers.org/clinvar/344955 ^@ NM_001106.3(ACVR2B):c.*2036G>T http://identifiers.org/clinvar/344375 ^@ NM_000460.3(THPO):c.-123C>T http://identifiers.org/clinvar/344377 ^@ NM_000460.3(THPO):c.-215T>A http://identifiers.org/clinvar/344378 ^@ NM_003722.4(TP63):c.-65C>T http://identifiers.org/clinvar/344379 ^@ NM_003722.4(TP63):c.-58A>T http://identifiers.org/clinvar/344385 ^@ NM_003722.4(TP63):c.899C>A (p.Thr300Lys) http://identifiers.org/clinvar/344386 ^@ NM_003722.4(TP63):c.992+4A>C http://identifiers.org/clinvar/344390 ^@ NM_003722.4(TP63):c.1707G>A (p.Gly569=) http://identifiers.org/clinvar/349537 ^@ NM_003759.3(SLC4A4):c.676-4G>T http://identifiers.org/clinvar/349548 ^@ NM_003759.3(SLC4A4):c.1878G>A (p.Ser626=) http://identifiers.org/clinvar/344391 ^@ NM_003722.4(TP63):c.1994T>G (p.Met665Arg) http://identifiers.org/clinvar/344956 ^@ NM_001106.3(ACVR2B):c.*2042C>T http://identifiers.org/clinvar/349549 ^@ NM_003759.3(SLC4A4):c.2111T>C (p.Val704Ala) http://identifiers.org/clinvar/349553 ^@ NM_003759.3(SLC4A4):c.2542T>C (p.Phe848Leu) http://identifiers.org/clinvar/344392 ^@ NM_003722.4(TP63):c.*101C>T http://identifiers.org/clinvar/344959 ^@ NM_001106.3(ACVR2B):c.*2280A>G http://identifiers.org/clinvar/348040 ^@ NM_001166108.1(PALLD):c.1527T>G (p.Ala509=) http://identifiers.org/clinvar/348046 ^@ NM_001166108.1(PALLD):c.3150A>G (p.Val1050=) http://identifiers.org/clinvar/344393 ^@ NM_003722.4(TP63):c.*221G>A http://identifiers.org/clinvar/344963 ^@ NM_001106.3(ACVR2B):c.*2360_*2361dupTT http://identifiers.org/clinvar/349554 ^@ NM_003759.3(SLC4A4):c.2562+10T>A http://identifiers.org/clinvar/344968 ^@ NM_001106.3(ACVR2B):c.*2425G>A http://identifiers.org/clinvar/349558 ^@ NM_003759.3(SLC4A4):c.3045C>T (p.Ser1015=) http://identifiers.org/clinvar/344398 ^@ NM_003722.4(TP63):c.*382A>G http://identifiers.org/clinvar/344401 ^@ NM_003722.4(TP63):c.*541G>A http://identifiers.org/clinvar/348048 ^@ NM_001166108.1(PALLD):c.*325delA http://identifiers.org/clinvar/349559 ^@ NM_003759.3(SLC4A4):c.3081A>G (p.Thr1027=) http://identifiers.org/clinvar/349564 ^@ NM_003759.3(SLC4A4):c.*286A>G http://identifiers.org/clinvar/348054 ^@ NM_001166108.1(PALLD):c.*946C>A http://identifiers.org/clinvar/348055 ^@ NM_001166108.1(PALLD):c.*992A>G http://identifiers.org/clinvar/348060 ^@ NM_001166108.1(PALLD):c.*1594T>C http://identifiers.org/clinvar/348062 ^@ NM_001166108.1(PALLD):c.*1786_*1787insATT http://identifiers.org/clinvar/348063 ^@ NM_001166108.1(PALLD):c.*1787T>C http://identifiers.org/clinvar/344404 ^@ NM_003722.4(TP63):c.*803G>A http://identifiers.org/clinvar/349569 ^@ NM_003759.3(SLC4A4):c.*761T>C http://identifiers.org/clinvar/348066 ^@ NM_001166108.1(PALLD):c.*1829T>C http://identifiers.org/clinvar/349573 ^@ NM_003759.3(SLC4A4):c.*1003A>G http://identifiers.org/clinvar/348067 ^@ NM_001166108.1(PALLD):c.*1906G>A http://identifiers.org/clinvar/344406 ^@ NM_003722.4(TP63):c.*966C>T http://identifiers.org/clinvar/344411 ^@ NM_003722.4(TP63):c.*1386T>C http://identifiers.org/clinvar/349575 ^@ NM_003759.3(SLC4A4):c.*1065A>C http://identifiers.org/clinvar/349579 ^@ NM_003759.3(SLC4A4):c.*1228A>G http://identifiers.org/clinvar/344412 ^@ NM_003722.4(TP63):c.*1464G>T http://identifiers.org/clinvar/344417 ^@ NM_003722.4(TP63):c.*1846C>T http://identifiers.org/clinvar/344419 ^@ NM_003722.4(TP63):c.*1939T>G http://identifiers.org/clinvar/344427 ^@ NM_003722.4(TP63):c.*2205A>G http://identifiers.org/clinvar/348081 ^@ NM_012224.2(NEK1):c.*710A>G http://identifiers.org/clinvar/349582 ^@ NM_003759.3(SLC4A4):c.*1438C>T http://identifiers.org/clinvar/349583 ^@ NM_003759.3(SLC4A4):c.*1450C>T http://identifiers.org/clinvar/349588 ^@ NM_003759.3(SLC4A4):c.*1821delA http://identifiers.org/clinvar/348082 ^@ NM_012224.2(NEK1):c.*658A>G http://identifiers.org/clinvar/349591 ^@ NM_003759.3(SLC4A4):c.*2002C>A http://identifiers.org/clinvar/349592 ^@ NM_003759.3(SLC4A4):c.*2028A>G http://identifiers.org/clinvar/349593 ^@ NM_003759.3(SLC4A4):c.*2184C>T http://identifiers.org/clinvar/344429 ^@ NM_003722.4(TP63):c.*2273A>G http://identifiers.org/clinvar/344434 ^@ NM_003722.4(TP63):c.*2544delT http://identifiers.org/clinvar/349610 ^@ NM_003759.3(SLC4A4):c.*3713T>G http://identifiers.org/clinvar/349613 ^@ NM_003759.3(SLC4A4):c.*3994C>T http://identifiers.org/clinvar/344445 ^@ NM_006580.3(CLDN16):c.166G>C (p.Ala56Pro) http://identifiers.org/clinvar/344446 ^@ NM_006580.3(CLDN16):c.227A>C (p.Gln76Pro) http://identifiers.org/clinvar/344448 ^@ NM_006580.3(CLDN16):c.324+13C>G http://identifiers.org/clinvar/349617 ^@ NM_000477.6(ALB):c.271-8C>T http://identifiers.org/clinvar/349620 ^@ NM_000477.6(ALB):c.612A>G (p.Pro204=) http://identifiers.org/clinvar/348083 ^@ NM_012224.2(NEK1):c.*495T>C http://identifiers.org/clinvar/348084 ^@ NM_012224.2(NEK1):c.*494A>G http://identifiers.org/clinvar/348088 ^@ NM_012224.2(NEK1):c.3666T>C (p.Ile1222=) http://identifiers.org/clinvar/344449 ^@ NM_006580.3(CLDN16):c.327G>A (p.Val109=) http://identifiers.org/clinvar/349621 ^@ NM_000477.6(ALB):c.615+14G>T http://identifiers.org/clinvar/344450 ^@ NM_006580.3(CLDN16):c.830A>G (p.Tyr277Cys) http://identifiers.org/clinvar/348093 ^@ NM_012224.2(NEK1):c.3321A>G (p.Gln1107=) http://identifiers.org/clinvar/349631 ^@ NM_000477.6(ALB):c.1429-9G>T http://identifiers.org/clinvar/348094 ^@ NM_012224.2(NEK1):c.3290+14C>T http://identifiers.org/clinvar/348097 ^@ NM_012224.2(NEK1):c.2991C>T (p.Asn997=) http://identifiers.org/clinvar/348101 ^@ NM_012224.2(NEK1):c.2680+12T>A http://identifiers.org/clinvar/344453 ^@ NM_006580.3(CLDN16):c.*204C>T http://identifiers.org/clinvar/348102 ^@ NM_012224.2(NEK1):c.2351-4A>G http://identifiers.org/clinvar/348103 ^@ NM_012224.2(NEK1):c.2337C>T (p.Phe779=) http://identifiers.org/clinvar/344456 ^@ NM_006580.3(CLDN16):c.*724A>C http://identifiers.org/clinvar/344462 ^@ NM_006580.3(CLDN16):c.*965G>A http://identifiers.org/clinvar/344975 ^@ NM_001106.3(ACVR2B):c.*3127G>A http://identifiers.org/clinvar/344976 ^@ NM_001106.3(ACVR2B):c.*3300C>T http://identifiers.org/clinvar/344982 ^@ NM_001106.3(ACVR2B):c.*3748G>T http://identifiers.org/clinvar/349640 ^@ NM_000477.6(ALB):c.1785+7C>T http://identifiers.org/clinvar/349641 ^@ NM_000477.6(ALB):c.*14A>C http://identifiers.org/clinvar/344464 ^@ NM_006580.3(CLDN16):c.*1170G>A http://identifiers.org/clinvar/348106 ^@ NM_012224.2(NEK1):c.2198_2199delCT (p.Ser733Terfs) http://identifiers.org/clinvar/349643 ^@ NM_025074.6(FRAS1):c.-422C>G http://identifiers.org/clinvar/344468 ^@ NM_006580.3(CLDN16):c.*1348A>G http://identifiers.org/clinvar/344470 ^@ NM_006580.3(CLDN16):c.*1453G>C http://identifiers.org/clinvar/344471 ^@ NM_006580.3(CLDN16):c.*1491A>G http://identifiers.org/clinvar/344473 ^@ NM_006580.3(CLDN16):c.*1733A>G http://identifiers.org/clinvar/344985 ^@ NM_001106.3(ACVR2B):c.*4061dupA http://identifiers.org/clinvar/348110 ^@ NM_012224.2(NEK1):c.1709A>G (p.Asn570Ser) http://identifiers.org/clinvar/344476 ^@ NM_006580.3(CLDN16):c.*2098T>G http://identifiers.org/clinvar/344480 ^@ NM_015560.2(OPA1):c.339C>T (p.Tyr113=) http://identifiers.org/clinvar/344482 ^@ NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) http://identifiers.org/clinvar/344484 ^@ NM_015560.2(OPA1):c.852G>A (p.Thr284=) http://identifiers.org/clinvar/348114 ^@ NM_012224.2(NEK1):c.1388C>T (p.Ala463Val) http://identifiers.org/clinvar/344486 ^@ NM_015560.2(OPA1):c.1572G>C (p.Gln524His) http://identifiers.org/clinvar/349645 ^@ NM_025074.6(FRAS1):c.-245C>G http://identifiers.org/clinvar/349646 ^@ NM_025074.6(FRAS1):c.-188C>T http://identifiers.org/clinvar/344489 ^@ NM_015560.2(OPA1):c.*220A>G http://identifiers.org/clinvar/344491 ^@ NM_015560.2(OPA1):c.*283A>G http://identifiers.org/clinvar/344499 ^@ NM_015560.2(OPA1):c.*1031A>T http://identifiers.org/clinvar/344501 ^@ NM_015560.2(OPA1):c.*1343A>G http://identifiers.org/clinvar/344514 ^@ NM_015560.2(OPA1):c.*2408A>G http://identifiers.org/clinvar/344517 ^@ NM_015560.2(OPA1):c.*2692G>A http://identifiers.org/clinvar/344518 ^@ NM_015560.2(OPA1):c.*2694T>A http://identifiers.org/clinvar/344519 ^@ NM_015560.2(OPA1):c.*2873A>T http://identifiers.org/clinvar/344526 ^@ NM_000996.2(RPL35A):c.-32-3A>G http://identifiers.org/clinvar/344987 ^@ NM_001106.3(ACVR2B):c.*4366G>A http://identifiers.org/clinvar/349651 ^@ NM_025074.6(FRAS1):c.76+5G>A http://identifiers.org/clinvar/344989 ^@ NM_001106.3(ACVR2B):c.*4486C>G http://identifiers.org/clinvar/344528 ^@ NM_000996.2(RPL35A):c.21C>T (p.Ser7=) http://identifiers.org/clinvar/349653 ^@ NM_025074.6(FRAS1):c.195C>T (p.Asn65=) http://identifiers.org/clinvar/349654 ^@ NM_025074.6(FRAS1):c.201A>G (p.Gln67=) http://identifiers.org/clinvar/344991 ^@ NM_001106.3(ACVR2B):c.*4617C>G http://identifiers.org/clinvar/348116 ^@ NM_012224.2(NEK1):c.1146T>C (p.Ile382=) http://identifiers.org/clinvar/344530 ^@ NM_000996.2(RPL35A):c.*6C>T http://identifiers.org/clinvar/344531 ^@ NM_000996.2(RPL35A):c.*14C>A http://identifiers.org/clinvar/349659 ^@ NM_025074.6(FRAS1):c.470-4C>G http://identifiers.org/clinvar/348117 ^@ NM_012224.2(NEK1):c.1068G>A (p.Arg356=) http://identifiers.org/clinvar/349661 ^@ NM_025074.6(FRAS1):c.524G>A (p.Ser175Asn) http://identifiers.org/clinvar/348121 ^@ NM_012224.2(NEK1):c.671C>T (p.Ser224Phe) http://identifiers.org/clinvar/348124 ^@ NM_012224.2(NEK1):c.591T>C (p.Cys197=) http://identifiers.org/clinvar/348127 ^@ NM_012224.2(NEK1):c.-52T>C http://identifiers.org/clinvar/344998 ^@ NM_001106.3(ACVR2B):c.*5096A>G http://identifiers.org/clinvar/349662 ^@ NM_025074.6(FRAS1):c.604-11T>A http://identifiers.org/clinvar/345004 ^@ NM_001106.3(ACVR2B):c.*5700A>C http://identifiers.org/clinvar/349666 ^@ NM_025074.6(FRAS1):c.682T>C (p.Tyr228His) http://identifiers.org/clinvar/349668 ^@ NM_025074.6(FRAS1):c.706G>A (p.Glu236Lys) http://identifiers.org/clinvar/349677 ^@ NM_025074.6(FRAS1):c.1416C>T (p.Cys472=) http://identifiers.org/clinvar/344538 ^@ NM_000461.4(THRB):c.*5352C>T http://identifiers.org/clinvar/344540 ^@ NM_000461.4(THRB):c.*5262C>T http://identifiers.org/clinvar/344542 ^@ NM_000461.4(THRB):c.*5194A>G http://identifiers.org/clinvar/348129 ^@ NM_012224.2(NEK1):c.-519C>T http://identifiers.org/clinvar/348132 ^@ NM_012224.2(NEK1):c.-582T>C http://identifiers.org/clinvar/344547 ^@ NM_000461.4(THRB):c.*4927G>A http://identifiers.org/clinvar/348134 ^@ NM_012224.2(NEK1):c.-610A>G http://identifiers.org/clinvar/349685 ^@ NM_025074.6(FRAS1):c.1783G>A (p.Gly595Ser) http://identifiers.org/clinvar/349687 ^@ NM_025074.6(FRAS1):c.1820-11C>T http://identifiers.org/clinvar/348175 ^@ NM_000860.5(HPGD):c.*1511A>G http://identifiers.org/clinvar/348187 ^@ NM_000860.5(HPGD):c.*679T>C http://identifiers.org/clinvar/348190 ^@ NM_000860.5(HPGD):c.*510G>C http://identifiers.org/clinvar/344560 ^@ NM_000461.4(THRB):c.*4189G>C http://identifiers.org/clinvar/345006 ^@ NM_001106.3(ACVR2B):c.*5970_*5971delCA http://identifiers.org/clinvar/345007 ^@ NM_001106.3(ACVR2B):c.*6043C>G http://identifiers.org/clinvar/348197 ^@ NM_000860.5(HPGD):c.*87A>G http://identifiers.org/clinvar/345010 ^@ NM_001106.3(ACVR2B):c.*6388T>G http://identifiers.org/clinvar/349693 ^@ NM_025074.6(FRAS1):c.2137G>C (p.Ala713Pro) http://identifiers.org/clinvar/345012 ^@ NM_001106.3(ACVR2B):c.*6534C>G http://identifiers.org/clinvar/349698 ^@ NM_025074.6(FRAS1):c.2598C>T (p.Thr866=) http://identifiers.org/clinvar/349701 ^@ NM_025074.6(FRAS1):c.3048T>C (p.His1016=) http://identifiers.org/clinvar/349704 ^@ NM_025074.6(FRAS1):c.3128A>G (p.Asp1043Gly) http://identifiers.org/clinvar/348206 ^@ NM_000860.5(HPGD):c.-123C>T http://identifiers.org/clinvar/348207 ^@ NM_000860.5(HPGD):c.-156T>C http://identifiers.org/clinvar/348208 ^@ NM_000860.5(HPGD):c.-221G>C http://identifiers.org/clinvar/345017 ^@ NM_001106.3(ACVR2B):c.*7179G>A http://identifiers.org/clinvar/344565 ^@ NM_000461.4(THRB):c.*3909_*3910dupAA http://identifiers.org/clinvar/345024 ^@ NM_001106.3(ACVR2B):c.*7643G>A http://identifiers.org/clinvar/344571 ^@ NM_000461.4(THRB):c.*3880_*3885delCAAAAA http://identifiers.org/clinvar/349705 ^@ NM_025074.6(FRAS1):c.3152-10T>C http://identifiers.org/clinvar/349710 ^@ NM_025074.6(FRAS1):c.4181G>C (p.Gly1394Ala) http://identifiers.org/clinvar/348211 ^@ NM_000860.5(HPGD):c.-302C>T http://identifiers.org/clinvar/348138 ^@ NM_000320.2(QDPR):c.*682A>G http://identifiers.org/clinvar/348140 ^@ NM_000320.2(QDPR):c.*568T>G http://identifiers.org/clinvar/345027 ^@ NM_001106.3(ACVR2B):c.*7959G>T http://identifiers.org/clinvar/348143 ^@ NM_000320.2(QDPR):c.*450T>A http://identifiers.org/clinvar/348144 ^@ NM_000320.2(QDPR):c.*408C>T http://identifiers.org/clinvar/345031 ^@ NM_001106.3(ACVR2B):c.*8439T>C http://identifiers.org/clinvar/349711 ^@ NM_025074.6(FRAS1):c.4364C>T (p.Ala1455Val) http://identifiers.org/clinvar/349712 ^@ NM_025074.6(FRAS1):c.4555C>T (p.Arg1519Trp) http://identifiers.org/clinvar/348146 ^@ NM_000320.2(QDPR):c.*329T>G http://identifiers.org/clinvar/348148 ^@ NM_000320.2(QDPR):c.*246delG http://identifiers.org/clinvar/349717 ^@ NM_025074.6(FRAS1):c.4682T>C (p.Leu1561Pro) http://identifiers.org/clinvar/348156 ^@ NM_000320.2(QDPR):c.437-6T>A http://identifiers.org/clinvar/349720 ^@ NM_025074.6(FRAS1):c.4940C>T (p.Thr1647Ile) http://identifiers.org/clinvar/345034 ^@ NM_001106.3(ACVR2B):c.*8675dupT http://identifiers.org/clinvar/349721 ^@ NM_025074.6(FRAS1):c.4959G>A (p.Pro1653=) http://identifiers.org/clinvar/349723 ^@ NM_025074.6(FRAS1):c.5208T>C (p.Leu1736=) http://identifiers.org/clinvar/348157 ^@ NM_000320.2(QDPR):c.345G>A (p.Ser115=) http://identifiers.org/clinvar/349725 ^@ NM_025074.6(FRAS1):c.5516C>T (p.Ala1839Val) http://identifiers.org/clinvar/348158 ^@ NM_000320.2(QDPR):c.296-15G>T http://identifiers.org/clinvar/348164 ^@ NM_000320.2(QDPR):c.-75delT http://identifiers.org/clinvar/348167 ^@ NM_000320.2(QDPR):c.-111G>C http://identifiers.org/clinvar/345035 ^@ NM_001106.3(ACVR2B):c.*8696G>A http://identifiers.org/clinvar/349726 ^@ NM_025074.6(FRAS1):c.5756G>A (p.Ser1919Asn) http://identifiers.org/clinvar/345039 ^@ NM_001106.3(ACVR2B):c.*9041T>C http://identifiers.org/clinvar/349734 ^@ NM_025074.6(FRAS1):c.6252C>T (p.Asn2084=) http://identifiers.org/clinvar/344574 ^@ NM_000461.4(THRB):c.*3595G>C http://identifiers.org/clinvar/344580 ^@ NM_000461.4(THRB):c.*3143T>C http://identifiers.org/clinvar/348224 ^@ NM_000027.3(AGA):c.*183A>C http://identifiers.org/clinvar/349740 ^@ NM_025074.6(FRAS1):c.6691G>A (p.Gly2231Arg) http://identifiers.org/clinvar/345041 ^@ NM_001106.3(ACVR2B):c.*9150C>T http://identifiers.org/clinvar/349742 ^@ NM_025074.6(FRAS1):c.6727C>T (p.Pro2243Ser) http://identifiers.org/clinvar/345048 ^@ NM_001106.3(ACVR2B):c.*9317A>T http://identifiers.org/clinvar/345044 ^@ NM_001106.3(ACVR2B):c.*9317_*9318dupAA http://identifiers.org/clinvar/345047 ^@ NM_001106.3(ACVR2B):c.*9317_*9318insTAT http://identifiers.org/clinvar/345043 ^@ NM_001106.3(ACVR2B):c.*9318dupA http://identifiers.org/clinvar/345045 ^@ NM_001106.3(ACVR2B):c.*9331_*9332dupTA http://identifiers.org/clinvar/348225 ^@ NM_000027.3(AGA):c.*96A>T http://identifiers.org/clinvar/345052 ^@ NM_001106.3(ACVR2B):c.*9399_*9437del39insATT http://identifiers.org/clinvar/349744 ^@ NM_025074.6(FRAS1):c.6806G>A (p.Arg2269Gln) http://identifiers.org/clinvar/345056 ^@ NM_001106.3(ACVR2B):c.*9471C>T http://identifiers.org/clinvar/349749 ^@ NM_025074.6(FRAS1):c.7074C>T (p.Gly2358=) http://identifiers.org/clinvar/348226 ^@ NM_000027.3(AGA):c.*48G>A http://identifiers.org/clinvar/348227 ^@ NM_000027.3(AGA):c.*8T>C http://identifiers.org/clinvar/348232 ^@ NM_000027.3(AGA):c.657T>C (p.Ala219=) http://identifiers.org/clinvar/349751 ^@ NM_025074.6(FRAS1):c.7223A>G (p.Asn2408Ser) http://identifiers.org/clinvar/348234 ^@ NM_000027.3(AGA):c.622+13T>C http://identifiers.org/clinvar/349755 ^@ NM_025074.6(FRAS1):c.7622A>G (p.Asn2541Ser) http://identifiers.org/clinvar/348236 ^@ NM_000027.3(AGA):c.95A>C (p.Asn32Thr) http://identifiers.org/clinvar/348242 ^@ NM_001151.3(SLC25A4):c.-103C>T http://identifiers.org/clinvar/348243 ^@ NM_001151.3(SLC25A4):c.-84C>A http://identifiers.org/clinvar/349756 ^@ NM_025074.6(FRAS1):c.7633G>A (p.Asp2545Asn) http://identifiers.org/clinvar/345065 ^@ NM_198056.2(SCN5A):c.*1932C>T http://identifiers.org/clinvar/349761 ^@ NM_025074.6(FRAS1):c.7923T>C (p.Asn2641=) http://identifiers.org/clinvar/348245 ^@ NM_001151.3(SLC25A4):c.243C>T (p.Tyr81=) http://identifiers.org/clinvar/349765 ^@ NM_025074.6(FRAS1):c.8441C>T (p.Ala2814Val) http://identifiers.org/clinvar/344584 ^@ NM_000461.4(THRB):c.*2882G>A http://identifiers.org/clinvar/344591 ^@ NM_000461.4(THRB):c.*2516A>G http://identifiers.org/clinvar/345071 ^@ NM_198056.2(SCN5A):c.*1691G>T http://identifiers.org/clinvar/344592 ^@ NM_000461.4(THRB):c.*2347C>G http://identifiers.org/clinvar/348249 ^@ NM_001151.3(SLC25A4):c.*173_*174delAT http://identifiers.org/clinvar/348250 ^@ NM_001151.3(SLC25A4):c.*262_*264delTAA http://identifiers.org/clinvar/348259 ^@ NM_001151.3(SLC25A4):c.*873G>A http://identifiers.org/clinvar/349768 ^@ NM_025074.6(FRAS1):c.8486C>A (p.Ser2829Tyr) http://identifiers.org/clinvar/344594 ^@ NM_000461.4(THRB):c.*2341C>T http://identifiers.org/clinvar/348262 ^@ NM_001151.3(SLC25A4):c.*1053T>C http://identifiers.org/clinvar/349769 ^@ NM_025074.6(FRAS1):c.8515C>T (p.Arg2839Trp) http://identifiers.org/clinvar/349770 ^@ NM_025074.6(FRAS1):c.8556C>T (p.Tyr2852=) http://identifiers.org/clinvar/345072 ^@ NM_198056.2(SCN5A):c.*1673C>T http://identifiers.org/clinvar/345074 ^@ NM_198056.2(SCN5A):c.*1568G>C http://identifiers.org/clinvar/349783 ^@ NM_025074.6(FRAS1):c.9291G>A (p.Lys3097=) http://identifiers.org/clinvar/345085 ^@ NM_198056.2(SCN5A):c.*990T>C http://identifiers.org/clinvar/345088 ^@ NM_198056.2(SCN5A):c.*962T>A http://identifiers.org/clinvar/344596 ^@ NM_000461.4(THRB):c.*2316A>G http://identifiers.org/clinvar/344602 ^@ NM_000461.4(THRB):c.*1959C>T http://identifiers.org/clinvar/344609 ^@ NM_000461.4(THRB):c.*1662T>C http://identifiers.org/clinvar/348263 ^@ NM_001151.3(SLC25A4):c.*1146T>C http://identifiers.org/clinvar/348265 ^@ NM_001151.3(SLC25A4):c.*1245T>A http://identifiers.org/clinvar/344621 ^@ NM_000461.4(THRB):c.*989_*991delTCT http://identifiers.org/clinvar/349784 ^@ NM_025074.6(FRAS1):c.9505-4G>A http://identifiers.org/clinvar/344622 ^@ NM_000461.4(THRB):c.*900delC http://identifiers.org/clinvar/349793 ^@ NM_025074.6(FRAS1):c.10008G>A (p.Pro3336=) http://identifiers.org/clinvar/344623 ^@ NM_000461.4(THRB):c.*730G>C http://identifiers.org/clinvar/348267 ^@ NM_001151.3(SLC25A4):c.*1792C>A http://identifiers.org/clinvar/345093 ^@ NM_198056.2(SCN5A):c.*747G>A http://identifiers.org/clinvar/345094 ^@ NM_198056.2(SCN5A):c.*725C>A http://identifiers.org/clinvar/348268 ^@ NM_001151.3(SLC25A4):c.*1985T>C http://identifiers.org/clinvar/349794 ^@ NM_025074.6(FRAS1):c.10014-14delC http://identifiers.org/clinvar/345096 ^@ NM_198056.2(SCN5A):c.*677G>A http://identifiers.org/clinvar/349797 ^@ NM_025074.6(FRAS1):c.10278C>T (p.Ile3426=) http://identifiers.org/clinvar/345098 ^@ NM_198056.2(SCN5A):c.*634C>A http://identifiers.org/clinvar/345100 ^@ NM_198056.2(SCN5A):c.*486C>T http://identifiers.org/clinvar/344627 ^@ NM_000461.4(THRB):c.*570dupA http://identifiers.org/clinvar/344630 ^@ NM_000461.4(THRB):c.*411A>G http://identifiers.org/clinvar/344632 ^@ NM_000461.4(THRB):c.*301G>A http://identifiers.org/clinvar/348272 ^@ NM_001151.3(SLC25A4):c.*2350G>C http://identifiers.org/clinvar/349801 ^@ NM_025074.6(FRAS1):c.10442C>T (p.Ser3481Phe) http://identifiers.org/clinvar/349806 ^@ NM_025074.6(FRAS1):c.10648+24_10648+25delTT http://identifiers.org/clinvar/348279 ^@ NM_001151.3(SLC25A4):c.*2720G>A http://identifiers.org/clinvar/348284 ^@ NM_001151.3(SLC25A4):c.*3114C>A http://identifiers.org/clinvar/344636 ^@ NM_000461.4(THRB):c.648C>T (p.Asp216=) http://identifiers.org/clinvar/348285 ^@ NM_001151.3(SLC25A4):c.*3276C>T http://identifiers.org/clinvar/344641 ^@ NM_000461.4(THRB):c.-108G>A http://identifiers.org/clinvar/344646 ^@ NM_003242.5(TGFBR2):c.-371A>C http://identifiers.org/clinvar/344650 ^@ NM_003242.5(TGFBR2):c.-249T>G http://identifiers.org/clinvar/344654 ^@ NM_003242.5(TGFBR2):c.-117G>A http://identifiers.org/clinvar/344659 ^@ NM_003242.5(TGFBR2):c.696C>T (p.Ala232=) http://identifiers.org/clinvar/344670 ^@ NM_003242.5(TGFBR2):c.*312A>T http://identifiers.org/clinvar/349805 ^@ NM_025074.6(FRAS1):c.10648+25delT http://identifiers.org/clinvar/344669 ^@ NM_003242.5(TGFBR2):c.*326_*329dupATAT http://identifiers.org/clinvar/344674 ^@ NM_003242.5(TGFBR2):c.*352A>G http://identifiers.org/clinvar/344677 ^@ NM_003242.5(TGFBR2):c.*599C>A http://identifiers.org/clinvar/344688 ^@ NM_003242.5(TGFBR2):c.*988C>T http://identifiers.org/clinvar/344690 ^@ NM_003242.5(TGFBR2):c.*997T>A http://identifiers.org/clinvar/344694 ^@ NM_003242.5(TGFBR2):c.*1285A>T http://identifiers.org/clinvar/344695 ^@ NM_003242.5(TGFBR2):c.*1326G>A http://identifiers.org/clinvar/344696 ^@ NM_003242.5(TGFBR2):c.*1354C>T http://identifiers.org/clinvar/345102 ^@ NM_198056.2(SCN5A):c.*331T>C http://identifiers.org/clinvar/349807 ^@ NM_025074.6(FRAS1):c.10689A>T (p.Lys3563Asn) http://identifiers.org/clinvar/349811 ^@ NM_025074.6(FRAS1):c.10869G>A (p.Gln3623=) http://identifiers.org/clinvar/344709 ^@ NM_003242.5(TGFBR2):c.*1887G>T http://identifiers.org/clinvar/344711 ^@ NM_003242.5(TGFBR2):c.*2065C>T http://identifiers.org/clinvar/349812 ^@ NM_025074.6(FRAS1):c.11111G>A (p.Arg3704Gln) http://identifiers.org/clinvar/348288 ^@ NM_207352.3(CYP4V2):c.-296A>C http://identifiers.org/clinvar/344716 ^@ NM_003242.5(TGFBR2):c.*2335T>A http://identifiers.org/clinvar/344718 ^@ NM_003242.5(TGFBR2):c.*2425C>A http://identifiers.org/clinvar/349815 ^@ NM_025074.6(FRAS1):c.11302C>T (p.Arg3768Cys) http://identifiers.org/clinvar/344720 ^@ NM_003242.5(TGFBR2):c.*2483T>G http://identifiers.org/clinvar/344721 ^@ NM_015141.3(GPD1L):c.-154T>A http://identifiers.org/clinvar/344728 ^@ NM_015141.3(GPD1L):c.811C>T (p.Arg271Trp) http://identifiers.org/clinvar/345108 ^@ NM_198056.2(SCN5A):c.*123A>G http://identifiers.org/clinvar/344733 ^@ NM_015141.3(GPD1L):c.*204A>G http://identifiers.org/clinvar/345110 ^@ NM_198056.2(SCN5A):c.*6G>T http://identifiers.org/clinvar/344745 ^@ NM_015141.3(GPD1L):c.*950C>T http://identifiers.org/clinvar/345113 ^@ NM_198056.2(SCN5A):c.5945G>T (p.Arg1982Ile) http://identifiers.org/clinvar/345117 ^@ NM_198056.2(SCN5A):c.3463C>T (p.Pro1155Ser) http://identifiers.org/clinvar/344747 ^@ NM_015141.3(GPD1L):c.*1029A>G http://identifiers.org/clinvar/344753 ^@ NM_015141.3(GPD1L):c.*1219T>C http://identifiers.org/clinvar/349816 ^@ NM_025074.6(FRAS1):c.11589C>T (p.Ile3863=) http://identifiers.org/clinvar/345119 ^@ NM_198056.2(SCN5A):c.3384C>T (p.Cys1128=) http://identifiers.org/clinvar/344754 ^@ NM_015141.3(GPD1L):c.*1288G>A http://identifiers.org/clinvar/348293 ^@ NM_207352.3(CYP4V2):c.-130delC http://identifiers.org/clinvar/344755 ^@ NM_015141.3(GPD1L):c.*1298G>A http://identifiers.org/clinvar/344763 ^@ NM_015141.3(GPD1L):c.*1815G>A http://identifiers.org/clinvar/344769 ^@ NM_015141.3(GPD1L):c.*2301G>T http://identifiers.org/clinvar/344771 ^@ NM_015141.3(GPD1L):c.*2348T>C http://identifiers.org/clinvar/348295 ^@ NM_207352.3(CYP4V2):c.-56C>G http://identifiers.org/clinvar/345121 ^@ NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) http://identifiers.org/clinvar/345124 ^@ NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) http://identifiers.org/clinvar/344770 ^@ NM_015141.3(GPD1L):c.*2349_*2350delCT http://identifiers.org/clinvar/344787 ^@ NM_000404.3(GLB1):c.1529C>T (p.Thr510Met) http://identifiers.org/clinvar/349817 ^@ NM_025074.6(FRAS1):c.11681C>T (p.Ala3894Val) http://identifiers.org/clinvar/349821 ^@ NM_025074.6(FRAS1):c.11902A>G (p.Arg3968Gly) http://identifiers.org/clinvar/344790 ^@ NM_000404.3(GLB1):c.1343A>T (p.Asp448Val) http://identifiers.org/clinvar/344791 ^@ NM_000404.3(GLB1):c.1234-11T>A http://identifiers.org/clinvar/348297 ^@ NM_207352.3(CYP4V2):c.163C>A (p.Arg55Ser) http://identifiers.org/clinvar/349822 ^@ NM_025074.6(FRAS1):c.11920C>T (p.Arg3974Trp) http://identifiers.org/clinvar/344792 ^@ NM_000404.3(GLB1):c.1032T>C (p.Thr344=) http://identifiers.org/clinvar/349823 ^@ NM_025074.6(FRAS1):c.11925C>T (p.Asn3975=) http://identifiers.org/clinvar/348298 ^@ NM_207352.3(CYP4V2):c.282C>T (p.Val94=) http://identifiers.org/clinvar/344798 ^@ NM_000404.3(GLB1):c.-35T>G http://identifiers.org/clinvar/345129 ^@ NM_198056.2(SCN5A):c.687T>C (p.Thr229=) http://identifiers.org/clinvar/345132 ^@ NM_198056.2(SCN5A):c.-107G>A http://identifiers.org/clinvar/348306 ^@ NM_207352.3(CYP4V2):c.662G>A (p.Arg221His) http://identifiers.org/clinvar/348313 ^@ NM_207352.3(CYP4V2):c.1339G>A (p.Glu447Lys) http://identifiers.org/clinvar/348320 ^@ NM_207352.3(CYP4V2):c.*392G>A http://identifiers.org/clinvar/348321 ^@ NM_207352.3(CYP4V2):c.*452C>T http://identifiers.org/clinvar/345135 ^@ NM_017875.2(SLC25A38):c.-292G>A http://identifiers.org/clinvar/349826 ^@ NM_025074.6(FRAS1):c.*84A>G http://identifiers.org/clinvar/348324 ^@ NM_207352.3(CYP4V2):c.*725C>T http://identifiers.org/clinvar/344802 ^@ NM_006371.4(CRTAP):c.-35C>T http://identifiers.org/clinvar/349830 ^@ NM_025074.6(FRAS1):c.*374C>T http://identifiers.org/clinvar/348330 ^@ NM_207352.3(CYP4V2):c.*1023T>C http://identifiers.org/clinvar/348333 ^@ NM_207352.3(CYP4V2):c.*1027C>T http://identifiers.org/clinvar/348331 ^@ NM_207352.3(CYP4V2):c.*1053_*1056dupCACA http://identifiers.org/clinvar/349834 ^@ NM_025074.6(FRAS1):c.*518dupT http://identifiers.org/clinvar/345136 ^@ NM_017875.2(SLC25A38):c.-237G>A http://identifiers.org/clinvar/348343 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACACACACATACAC http://identifiers.org/clinvar/349837 ^@ NM_025074.6(FRAS1):c.*709G>A http://identifiers.org/clinvar/345138 ^@ NM_017875.2(SLC25A38):c.-225G>A http://identifiers.org/clinvar/348352 ^@ NM_207352.3(CYP4V2):c.*1317T>C http://identifiers.org/clinvar/348356 ^@ NM_207352.3(CYP4V2):c.*1774C>T http://identifiers.org/clinvar/349838 ^@ NM_025074.6(FRAS1):c.*731C>G http://identifiers.org/clinvar/348357 ^@ NM_207352.3(CYP4V2):c.*1781A>C http://identifiers.org/clinvar/349843 ^@ NM_025074.6(FRAS1):c.*938A>G http://identifiers.org/clinvar/345139 ^@ NM_017875.2(SLC25A38):c.-219T>C http://identifiers.org/clinvar/345144 ^@ NM_017875.2(SLC25A38):c.161G>A (p.Arg54His) http://identifiers.org/clinvar/348358 ^@ NM_207352.3(CYP4V2):c.*1851A>G http://identifiers.org/clinvar/349846 ^@ NM_025074.6(FRAS1):c.*1210G>A http://identifiers.org/clinvar/344804 ^@ NM_006371.4(CRTAP):c.143A>G (p.Tyr48Cys) http://identifiers.org/clinvar/349850 ^@ NM_025074.6(FRAS1):c.*1384C>T http://identifiers.org/clinvar/349851 ^@ NM_025074.6(FRAS1):c.*1669A>C http://identifiers.org/clinvar/349857 ^@ NM_025074.6(FRAS1):c.*2261C>T http://identifiers.org/clinvar/348359 ^@ NM_207352.3(CYP4V2):c.*1967C>T http://identifiers.org/clinvar/345156 ^@ NM_017875.2(SLC25A38):c.*431G>A http://identifiers.org/clinvar/345161 ^@ NM_018075.4(ANO10):c.*464C>T http://identifiers.org/clinvar/348360 ^@ NM_207352.3(CYP4V2):c.*2017T>C http://identifiers.org/clinvar/345166 ^@ NM_018075.4(ANO10):c.*432G>T http://identifiers.org/clinvar/345169 ^@ NM_018075.4(ANO10):c.*246A>G http://identifiers.org/clinvar/348367 ^@ NM_000128.3(F11):c.-326C>G http://identifiers.org/clinvar/349859 ^@ NM_025074.6(FRAS1):c.*2350C>T http://identifiers.org/clinvar/348384 ^@ NM_000128.3(F11):c.*322G>A http://identifiers.org/clinvar/348388 ^@ NM_000128.3(F11):c.*636A>G http://identifiers.org/clinvar/348390 ^@ NM_000128.3(F11):c.*822A>G http://identifiers.org/clinvar/344807 ^@ NM_006371.4(CRTAP):c.446A>G (p.Lys149Arg) http://identifiers.org/clinvar/345177 ^@ NM_018075.4(ANO10):c.1683G>C (p.Thr561=) http://identifiers.org/clinvar/349860 ^@ NM_025074.6(FRAS1):c.*2370G>A http://identifiers.org/clinvar/345179 ^@ NM_018075.4(ANO10):c.1628G>A (p.Arg543His) http://identifiers.org/clinvar/345181 ^@ NM_018075.4(ANO10):c.1559C>T (p.Ala520Val) http://identifiers.org/clinvar/349865 ^@ NM_025074.6(FRAS1):c.*2811T>A http://identifiers.org/clinvar/349870 ^@ NM_025074.6(FRAS1):c.*3142G>T http://identifiers.org/clinvar/345187 ^@ NM_018075.4(ANO10):c.1133G>A (p.Arg378Gln) http://identifiers.org/clinvar/349872 ^@ NM_058172.5(ANTXR2):c.1392C>A (p.Asp464Glu) http://identifiers.org/clinvar/349882 ^@ NM_058172.5(ANTXR2):c.378+8A>C http://identifiers.org/clinvar/344820 ^@ NM_006371.4(CRTAP):c.*470_*471delTG http://identifiers.org/clinvar/348392 ^@ NM_000128.3(F11):c.*885G>A http://identifiers.org/clinvar/348399 ^@ NM_133330.2(NSD2):c.-434C>G http://identifiers.org/clinvar/344825 ^@ NM_006371.4(CRTAP):c.*703A>T http://identifiers.org/clinvar/345190 ^@ NM_018075.4(ANO10):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/344831 ^@ NM_006371.4(CRTAP):c.*1090_*1095dupACTAGA http://identifiers.org/clinvar/345291 ^@ NM_182760.3(SUMF1):c.*819G>A http://identifiers.org/clinvar/344840 ^@ NM_006371.4(CRTAP):c.*1582C>A http://identifiers.org/clinvar/345294 ^@ NM_182760.3(SUMF1):c.*692A>G http://identifiers.org/clinvar/345296 ^@ NM_182760.3(SUMF1):c.*639T>C http://identifiers.org/clinvar/345298 ^@ NM_182760.3(SUMF1):c.*568G>A http://identifiers.org/clinvar/345299 ^@ NM_182760.3(SUMF1):c.*552T>G http://identifiers.org/clinvar/348400 ^@ NM_133330.2(NSD2):c.-402A>C http://identifiers.org/clinvar/348428 ^@ NM_133330.2(NSD2):c.884A>T (p.Gln295Leu) http://identifiers.org/clinvar/349885 ^@ NM_058172.5(ANTXR2):c.252G>A (p.Val84=) http://identifiers.org/clinvar/348433 ^@ NM_133330.2(NSD2):c.1582C>A (p.His528Asn) http://identifiers.org/clinvar/349887 ^@ NM_058172.5(ANTXR2):c.225-4G>A http://identifiers.org/clinvar/349890 ^@ NM_058172.5(ANTXR2):c.-82C>A http://identifiers.org/clinvar/349892 ^@ NM_058172.5(ANTXR2):c.-230_-229delAA http://identifiers.org/clinvar/345301 ^@ NM_182760.3(SUMF1):c.*518T>C http://identifiers.org/clinvar/345304 ^@ NM_182760.3(SUMF1):c.*460_*463delTGAG http://identifiers.org/clinvar/348434 ^@ NM_133330.2(NSD2):c.1584C>A (p.His528Gln) http://identifiers.org/clinvar/349897 ^@ NM_058172.5(ANTXR2):c.-410G>A http://identifiers.org/clinvar/344851 ^@ NM_006371.4(CRTAP):c.*2416T>C http://identifiers.org/clinvar/349899 ^@ NM_058172.5(ANTXR2):c.-442C>G http://identifiers.org/clinvar/349900 ^@ NM_058172.5(ANTXR2):c.-455C>T http://identifiers.org/clinvar/345200 ^@ NM_018075.4(ANO10):c.-74C>T http://identifiers.org/clinvar/349915 ^@ NM_138982.3(MAPK10):c.*2087A>G http://identifiers.org/clinvar/345313 ^@ NM_182760.3(SUMF1):c.1015-8C>T http://identifiers.org/clinvar/345222 ^@ NM_016006.4(ABHD5):c.806C>T (p.Pro269Leu) http://identifiers.org/clinvar/345224 ^@ NM_016006.4(ABHD5):c.906C>A (p.Gly302=) http://identifiers.org/clinvar/344859 ^@ NM_006371.4(CRTAP):c.*3005G>A http://identifiers.org/clinvar/345226 ^@ NM_016006.4(ABHD5):c.*29G>C http://identifiers.org/clinvar/345227 ^@ NM_016006.4(ABHD5):c.*38T>G http://identifiers.org/clinvar/349923 ^@ NM_138982.3(MAPK10):c.*1623A>G http://identifiers.org/clinvar/344863 ^@ NM_006371.4(CRTAP):c.*3142G>A http://identifiers.org/clinvar/349924 ^@ NM_138982.3(MAPK10):c.*1573A>G http://identifiers.org/clinvar/349925 ^@ NM_138982.3(MAPK10):c.*1489C>T http://identifiers.org/clinvar/349934 ^@ NM_138982.3(MAPK10):c.*649G>C http://identifiers.org/clinvar/344864 ^@ NM_006371.4(CRTAP):c.*3145A>G http://identifiers.org/clinvar/344865 ^@ NM_006371.4(CRTAP):c.*3221C>T http://identifiers.org/clinvar/349935 ^@ NM_138982.3(MAPK10):c.*625T>G http://identifiers.org/clinvar/349946 ^@ NM_138982.3(MAPK10):c.*27G>A http://identifiers.org/clinvar/344867 ^@ NM_006371.4(CRTAP):c.*3243A>C http://identifiers.org/clinvar/344871 ^@ NM_006371.4(CRTAP):c.*3593_*3596delCAAA http://identifiers.org/clinvar/348445 ^@ NM_133330.2(NSD2):c.3486C>T (p.Gly1162=) http://identifiers.org/clinvar/349950 ^@ NM_138982.3(MAPK10):c.1053C>T (p.Asp351=) http://identifiers.org/clinvar/348448 ^@ NM_133330.2(NSD2):c.3900C>T (p.Pro1300=) http://identifiers.org/clinvar/344883 ^@ NM_006371.4(CRTAP):c.*4457dupA http://identifiers.org/clinvar/344884 ^@ NM_006371.4(CRTAP):c.*4459C>A http://identifiers.org/clinvar/345234 ^@ NM_016006.4(ABHD5):c.*1011G>C http://identifiers.org/clinvar/348454 ^@ NM_133330.2(NSD2):c.*167A>G http://identifiers.org/clinvar/345236 ^@ NM_016006.4(ABHD5):c.*1201G>A http://identifiers.org/clinvar/345237 ^@ NM_016006.4(ABHD5):c.*1265A>G http://identifiers.org/clinvar/349957 ^@ NM_138982.3(MAPK10):c.-67T>G http://identifiers.org/clinvar/349958 ^@ NM_138982.3(MAPK10):c.-101C>G http://identifiers.org/clinvar/348462 ^@ NM_133330.2(NSD2):c.*620T>G http://identifiers.org/clinvar/348465 ^@ NM_133330.2(NSD2):c.*731G>A http://identifiers.org/clinvar/349962 ^@ NM_138982.3(MAPK10):c.-450C>T http://identifiers.org/clinvar/348474 ^@ NM_133330.2(NSD2):c.*1370dupT http://identifiers.org/clinvar/348486 ^@ NM_133330.2(NSD2):c.*1942T>C http://identifiers.org/clinvar/348487 ^@ NM_133330.2(NSD2):c.*2003T>G http://identifiers.org/clinvar/345238 ^@ NM_016006.4(ABHD5):c.*1346_*1348delAGT http://identifiers.org/clinvar/345251 ^@ NM_016006.4(ABHD5):c.*1860delG http://identifiers.org/clinvar/345253 ^@ NM_016006.4(ABHD5):c.*1895C>A http://identifiers.org/clinvar/349965 ^@ NM_138982.3(MAPK10):c.-648G>T http://identifiers.org/clinvar/349968 ^@ NM_138982.3(MAPK10):c.-681C>T http://identifiers.org/clinvar/344886 ^@ NM_006371.4(CRTAP):c.*4601T>C http://identifiers.org/clinvar/344888 ^@ NM_006371.4(CRTAP):c.*4691T>C http://identifiers.org/clinvar/349976 ^@ NM_004407.3(DMP1):c.674G>A (p.Ser225Asn) http://identifiers.org/clinvar/349977 ^@ NM_004407.3(DMP1):c.709A>G (p.Met237Val) http://identifiers.org/clinvar/345257 ^@ NM_016006.4(ABHD5):c.*2064G>C http://identifiers.org/clinvar/344892 ^@ NM_006371.4(CRTAP):c.*4783_*4786delCAAG http://identifiers.org/clinvar/344896 ^@ NM_006371.4(CRTAP):c.*5048G>A http://identifiers.org/clinvar/344900 ^@ NM_006371.4(CRTAP):c.*5313T>G http://identifiers.org/clinvar/349980 ^@ NM_004407.3(DMP1):c.943G>C (p.Gly315Arg) http://identifiers.org/clinvar/348488 ^@ NM_133330.2(NSD2):c.*2012dupG http://identifiers.org/clinvar/344901 ^@ NM_000249.3(MLH1):c.-117G>T http://identifiers.org/clinvar/348492 ^@ NM_133330.2(NSD2):c.*2121C>T http://identifiers.org/clinvar/349983 ^@ NM_004407.3(DMP1):c.1230G>A (p.Glu410=) http://identifiers.org/clinvar/349984 ^@ NM_004407.3(DMP1):c.1333G>A (p.Glu445Lys) http://identifiers.org/clinvar/344904 ^@ NM_000249.3(MLH1):c.-86G>A http://identifiers.org/clinvar/349989 ^@ NM_004407.3(DMP1):c.*35G>A http://identifiers.org/clinvar/345261 ^@ NM_016006.4(ABHD5):c.*2392dupA http://identifiers.org/clinvar/349993 ^@ NM_004407.3(DMP1):c.*329A>C http://identifiers.org/clinvar/349995 ^@ NM_004407.3(DMP1):c.*457T>C http://identifiers.org/clinvar/344907 ^@ NM_000249.3(MLH1):c.1038+15C>T http://identifiers.org/clinvar/349999 ^@ NM_004407.3(DMP1):c.*695T>A http://identifiers.org/clinvar/344910 ^@ NM_000249.3(MLH1):c.2070C>T (p.Tyr690=) http://identifiers.org/clinvar/344914 ^@ NM_001106.3(ACVR2B):c.260+7C>G http://identifiers.org/clinvar/348495 ^@ NM_133330.2(NSD2):c.*2414G>A http://identifiers.org/clinvar/350005 ^@ NM_004407.3(DMP1):c.*918T>G http://identifiers.org/clinvar/348500 ^@ NM_133330.2(NSD2):c.*2733G>C http://identifiers.org/clinvar/344920 ^@ NM_001106.3(ACVR2B):c.1477C>T (p.Leu493Phe) http://identifiers.org/clinvar/350007 ^@ NM_000297.3(PKD2):c.-82G>C http://identifiers.org/clinvar/350009 ^@ NM_000297.3(PKD2):c.-64C>T http://identifiers.org/clinvar/350010 ^@ NM_000297.3(PKD2):c.-26C>T http://identifiers.org/clinvar/344923 ^@ NM_001106.3(ACVR2B):c.*87A>G http://identifiers.org/clinvar/345266 ^@ NM_016006.4(ABHD5):c.*2717dupA http://identifiers.org/clinvar/345268 ^@ NM_016006.4(ABHD5):c.*2926G>A http://identifiers.org/clinvar/345276 ^@ NM_016006.4(ABHD5):c.*3671A>G http://identifiers.org/clinvar/344925 ^@ NM_001106.3(ACVR2B):c.*146T>C http://identifiers.org/clinvar/345279 ^@ NM_016006.4(ABHD5):c.*3755G>A http://identifiers.org/clinvar/350011 ^@ NM_000297.3(PKD2):c.103G>A (p.Ala35Thr) http://identifiers.org/clinvar/345280 ^@ NM_016006.4(ABHD5):c.*3761A>G http://identifiers.org/clinvar/345285 ^@ NM_016006.4(ABHD5):c.*4189C>T http://identifiers.org/clinvar/345320 ^@ NM_182760.3(SUMF1):c.519A>G (p.Ala173=) http://identifiers.org/clinvar/344935 ^@ NM_001106.3(ACVR2B):c.*665G>A http://identifiers.org/clinvar/344938 ^@ NM_001106.3(ACVR2B):c.*765G>A http://identifiers.org/clinvar/344941 ^@ NM_001106.3(ACVR2B):c.*1042G>A http://identifiers.org/clinvar/344943 ^@ NM_001106.3(ACVR2B):c.*1346_*1347delAA http://identifiers.org/clinvar/348501 ^@ NM_133330.2(NSD2):c.*2780G>A http://identifiers.org/clinvar/348511 ^@ NM_133330.2(NSD2):c.*3241A>C http://identifiers.org/clinvar/348515 ^@ NM_016955.3(SEPSECS):c.*3402A>G http://identifiers.org/clinvar/345323 ^@ NM_182760.3(SUMF1):c.271-7A>G http://identifiers.org/clinvar/350012 ^@ NM_000297.3(PKD2):c.154C>A (p.Leu52Met) http://identifiers.org/clinvar/345324 ^@ NM_182760.3(SUMF1):c.263A>C (p.His88Pro) http://identifiers.org/clinvar/350015 ^@ NM_000297.3(PKD2):c.402G>A (p.Val134=) http://identifiers.org/clinvar/350021 ^@ NM_000297.3(PKD2):c.1148T>C (p.Ile383Thr) http://identifiers.org/clinvar/350024 ^@ NM_000297.3(PKD2):c.1836T>C (p.Ala612=) http://identifiers.org/clinvar/344946 ^@ NM_001106.3(ACVR2B):c.*1429C>T http://identifiers.org/clinvar/344951 ^@ NM_001106.3(ACVR2B):c.*1891G>C http://identifiers.org/clinvar/344957 ^@ NM_001106.3(ACVR2B):c.*2071G>A http://identifiers.org/clinvar/348519 ^@ NM_016955.3(SEPSECS):c.*2990G>C http://identifiers.org/clinvar/345327 ^@ NM_182760.3(SUMF1):c.177C>T (p.Gly59=) http://identifiers.org/clinvar/348520 ^@ NM_016955.3(SEPSECS):c.*2840T>C http://identifiers.org/clinvar/350029 ^@ NM_000297.3(PKD2):c.2388A>G (p.Leu796=) http://identifiers.org/clinvar/348530 ^@ NM_016955.3(SEPSECS):c.*1635G>A http://identifiers.org/clinvar/350034 ^@ NM_000297.3(PKD2):c.*184dupT http://identifiers.org/clinvar/350036 ^@ NM_000297.3(PKD2):c.*239T>G http://identifiers.org/clinvar/345333 ^@ NM_002222.5(ITPR1):c.-158C>G http://identifiers.org/clinvar/344958 ^@ NM_001106.3(ACVR2B):c.*2154A>C http://identifiers.org/clinvar/348531 ^@ NM_016955.3(SEPSECS):c.*1622T>C http://identifiers.org/clinvar/345351 ^@ NM_020208.3(SLC6A20):c.*2675C>G http://identifiers.org/clinvar/344961 ^@ NM_001106.3(ACVR2B):c.*2332_*2334delGTC http://identifiers.org/clinvar/348533 ^@ NM_016955.3(SEPSECS):c.*1614T>C http://identifiers.org/clinvar/345352 ^@ NM_020208.3(SLC6A20):c.*2647T>C http://identifiers.org/clinvar/350041 ^@ NM_000297.3(PKD2):c.*604G>A http://identifiers.org/clinvar/348537 ^@ NM_016955.3(SEPSECS):c.*681A>C http://identifiers.org/clinvar/348555 ^@ NM_016955.3(SEPSECS):c.-119_-115delGTTTT http://identifiers.org/clinvar/348557 ^@ NM_016955.3(SEPSECS):c.-141_-140dupTT http://identifiers.org/clinvar/348569 ^@ NM_003023.4(SH3BP2):c.276C>T (p.Asn92=) http://identifiers.org/clinvar/345360 ^@ NM_020208.3(SLC6A20):c.*2206dupT http://identifiers.org/clinvar/350042 ^@ NM_000297.3(PKD2):c.*744G>A http://identifiers.org/clinvar/348571 ^@ NM_003023.4(SH3BP2):c.398A>C (p.His133Pro) http://identifiers.org/clinvar/350043 ^@ NM_000297.3(PKD2):c.*794C>A http://identifiers.org/clinvar/348573 ^@ NM_003023.4(SH3BP2):c.441G>A (p.Ser147=) http://identifiers.org/clinvar/348575 ^@ NM_003023.4(SH3BP2):c.472C>T (p.Arg158Trp) http://identifiers.org/clinvar/348577 ^@ NM_003023.4(SH3BP2):c.517+5G>A http://identifiers.org/clinvar/350047 ^@ NM_000297.3(PKD2):c.*1221T>C http://identifiers.org/clinvar/348587 ^@ NM_003023.4(SH3BP2):c.1280_1282delCCT (p.Ser427del) http://identifiers.org/clinvar/348602 ^@ NM_003023.4(SH3BP2):c.*415G>A http://identifiers.org/clinvar/348605 ^@ NM_003023.4(SH3BP2):c.*689C>T http://identifiers.org/clinvar/348606 ^@ NM_003023.4(SH3BP2):c.*736C>T http://identifiers.org/clinvar/345362 ^@ NM_020208.3(SLC6A20):c.*2035A>G http://identifiers.org/clinvar/350049 ^@ NM_000297.3(PKD2):c.*1360_*1362delCTT http://identifiers.org/clinvar/345363 ^@ NM_020208.3(SLC6A20):c.*2017_*2018insGGA http://identifiers.org/clinvar/350052 ^@ NM_000297.3(PKD2):c.*1654T>C http://identifiers.org/clinvar/344971 ^@ NM_001106.3(ACVR2B):c.*2841dupC http://identifiers.org/clinvar/344972 ^@ NM_001106.3(ACVR2B):c.*2900T>C http://identifiers.org/clinvar/344977 ^@ NM_001106.3(ACVR2B):c.*3316G>A http://identifiers.org/clinvar/350053 ^@ NM_000297.3(PKD2):c.*1826A>G http://identifiers.org/clinvar/350063 ^@ NM_000345.3(SNCA):c.*2108A>T http://identifiers.org/clinvar/345367 ^@ NM_020208.3(SLC6A20):c.*1629C>T http://identifiers.org/clinvar/350069 ^@ NM_000345.3(SNCA):c.*1325A>G http://identifiers.org/clinvar/345376 ^@ NM_020208.3(SLC6A20):c.*1253A>G http://identifiers.org/clinvar/348611 ^@ NM_003023.4(SH3BP2):c.*1116C>T http://identifiers.org/clinvar/350073 ^@ NM_000345.3(SNCA):c.*1310_*1311insTTTTT http://identifiers.org/clinvar/350074 ^@ NM_000345.3(SNCA):c.*1308_*1310dupTTA http://identifiers.org/clinvar/345384 ^@ NM_020208.3(SLC6A20):c.*871C>G http://identifiers.org/clinvar/350077 ^@ NM_000345.3(SNCA):c.*1306_*1309dupTTTT http://identifiers.org/clinvar/350078 ^@ NM_000345.3(SNCA):c.*1305_*1309dupTTTTT http://identifiers.org/clinvar/348614 ^@ NM_003023.4(SH3BP2):c.*1401C>T http://identifiers.org/clinvar/345387 ^@ NM_020208.3(SLC6A20):c.*599G>A http://identifiers.org/clinvar/350082 ^@ NM_000345.3(SNCA):c.*1292_*1296dupCTTTT http://identifiers.org/clinvar/350084 ^@ NM_000345.3(SNCA):c.*1289T>C http://identifiers.org/clinvar/348617 ^@ NM_003023.4(SH3BP2):c.*1582C>T http://identifiers.org/clinvar/345388 ^@ NM_020208.3(SLC6A20):c.*590G>A http://identifiers.org/clinvar/345392 ^@ NM_020208.3(SLC6A20):c.*142A>C http://identifiers.org/clinvar/350087 ^@ NM_000345.3(SNCA):c.*1245delT http://identifiers.org/clinvar/345394 ^@ NM_020208.3(SLC6A20):c.1742G>A (p.Arg581His) http://identifiers.org/clinvar/345400 ^@ NM_020208.3(SLC6A20):c.1304-4C>G http://identifiers.org/clinvar/345401 ^@ NM_020208.3(SLC6A20):c.1248C>T (p.Thr416=) http://identifiers.org/clinvar/350090 ^@ NM_000345.3(SNCA):c.*1047T>G http://identifiers.org/clinvar/345402 ^@ NM_020208.3(SLC6A20):c.1236G>A (p.Ala412=) http://identifiers.org/clinvar/350096 ^@ NM_000345.3(SNCA):c.*593C>A http://identifiers.org/clinvar/345405 ^@ NM_020208.3(SLC6A20):c.1059G>A (p.Pro353=) http://identifiers.org/clinvar/345408 ^@ NM_020208.3(SLC6A20):c.858C>T (p.Thr286=) http://identifiers.org/clinvar/348624 ^@ NM_003023.4(SH3BP2):c.*1910C>T http://identifiers.org/clinvar/350097 ^@ NM_000345.3(SNCA):c.*580_*584delATTTT http://identifiers.org/clinvar/348626 ^@ NM_003023.4(SH3BP2):c.*1947C>T http://identifiers.org/clinvar/345411 ^@ NM_020208.3(SLC6A20):c.693+4C>T http://identifiers.org/clinvar/350103 ^@ NM_000345.3(SNCA):c.*139T>G http://identifiers.org/clinvar/345412 ^@ NM_020208.3(SLC6A20):c.659C>T (p.Ala220Val) http://identifiers.org/clinvar/350104 ^@ NM_000345.3(SNCA):c.408C>T (p.Tyr136=) http://identifiers.org/clinvar/344980 ^@ NM_001106.3(ACVR2B):c.*3570A>G http://identifiers.org/clinvar/344981 ^@ NM_001106.3(ACVR2B):c.*3714G>T http://identifiers.org/clinvar/348631 ^@ NM_003023.4(SH3BP2):c.*2355_*2356delCT http://identifiers.org/clinvar/348632 ^@ NM_003023.4(SH3BP2):c.*2359A>G http://identifiers.org/clinvar/344986 ^@ NM_001106.3(ACVR2B):c.*4218A>G http://identifiers.org/clinvar/350108 ^@ NM_000345.3(SNCA):c.-40G>A http://identifiers.org/clinvar/350109 ^@ NM_000345.3(SNCA):c.-42T>C http://identifiers.org/clinvar/350113 ^@ NM_001203.2(BMPR1B):c.92G>A (p.Arg31His) http://identifiers.org/clinvar/350118 ^@ NM_001203.2(BMPR1B):c.705C>T (p.Thr235=) http://identifiers.org/clinvar/345005 ^@ NM_001106.3(ACVR2B):c.*5888A>G http://identifiers.org/clinvar/345008 ^@ NM_001106.3(ACVR2B):c.*6157G>A http://identifiers.org/clinvar/345013 ^@ NM_001106.3(ACVR2B):c.*6553G>A http://identifiers.org/clinvar/350120 ^@ NM_001203.2(BMPR1B):c.762G>T (p.Arg254Ser) http://identifiers.org/clinvar/350123 ^@ NM_001203.2(BMPR1B):c.1102C>T (p.Pro368Ser) http://identifiers.org/clinvar/345014 ^@ NM_001106.3(ACVR2B):c.*6638C>T http://identifiers.org/clinvar/345015 ^@ NM_001106.3(ACVR2B):c.*6948G>A http://identifiers.org/clinvar/345016 ^@ NM_001106.3(ACVR2B):c.*7110T>C http://identifiers.org/clinvar/345414 ^@ NM_020208.3(SLC6A20):c.615C>T (p.Cys205=) http://identifiers.org/clinvar/350126 ^@ NM_001203.2(BMPR1B):c.1384-8T>C http://identifiers.org/clinvar/345421 ^@ NM_020208.3(SLC6A20):c.366G>A (p.Pro122=) http://identifiers.org/clinvar/345018 ^@ NM_001106.3(ACVR2B):c.*7227C>A http://identifiers.org/clinvar/350127 ^@ NM_001203.2(BMPR1B):c.*49C>T http://identifiers.org/clinvar/350128 ^@ NM_001203.2(BMPR1B):c.*109G>A http://identifiers.org/clinvar/345025 ^@ NM_001106.3(ACVR2B):c.*7688G>A http://identifiers.org/clinvar/348633 ^@ NM_003023.4(SH3BP2):c.*2464T>C http://identifiers.org/clinvar/348634 ^@ NM_003023.4(SH3BP2):c.*2471G>T http://identifiers.org/clinvar/348636 ^@ NM_003023.4(SH3BP2):c.*2510A>G http://identifiers.org/clinvar/348645 ^@ NM_003023.4(SH3BP2):c.*2951C>G http://identifiers.org/clinvar/348650 ^@ NM_003023.4(SH3BP2):c.*3135_*3137delTCT http://identifiers.org/clinvar/345028 ^@ NM_001106.3(ACVR2B):c.*8141C>A http://identifiers.org/clinvar/350134 ^@ NM_001203.2(BMPR1B):c.*245T>A http://identifiers.org/clinvar/345037 ^@ NM_001106.3(ACVR2B):c.*8845T>C http://identifiers.org/clinvar/348653 ^@ NM_003023.4(SH3BP2):c.*3220T>C http://identifiers.org/clinvar/345057 ^@ NM_001106.3(ACVR2B):c.*9584C>G http://identifiers.org/clinvar/350138 ^@ NM_001203.2(BMPR1B):c.*487G>T http://identifiers.org/clinvar/350139 ^@ NM_001203.2(BMPR1B):c.*633A>G http://identifiers.org/clinvar/348654 ^@ NM_003023.4(SH3BP2):c.*3229T>G http://identifiers.org/clinvar/345058 ^@ NM_001106.3(ACVR2B):c.*9731C>T http://identifiers.org/clinvar/345424 ^@ NM_020208.3(SLC6A20):c.268G>A (p.Ala90Thr) http://identifiers.org/clinvar/345427 ^@ NM_020208.3(SLC6A20):c.39G>C (p.Gln13His) http://identifiers.org/clinvar/345060 ^@ NM_198056.2(SCN5A):c.*2149G>A http://identifiers.org/clinvar/350140 ^@ NM_001203.2(BMPR1B):c.*641C>T http://identifiers.org/clinvar/350144 ^@ NM_001203.2(BMPR1B):c.*825_*834delTTTTTTTTTT http://identifiers.org/clinvar/348661 ^@ NM_003023.4(SH3BP2):c.*3609C>T http://identifiers.org/clinvar/348664 ^@ NM_003023.4(SH3BP2):c.*3743G>A http://identifiers.org/clinvar/348666 ^@ NM_003023.4(SH3BP2):c.*3911C>T http://identifiers.org/clinvar/345066 ^@ NM_198056.2(SCN5A):c.*1836A>T http://identifiers.org/clinvar/350146 ^@ NM_001203.2(BMPR1B):c.*860T>C http://identifiers.org/clinvar/348669 ^@ NM_003023.4(SH3BP2):c.*4047C>T http://identifiers.org/clinvar/350148 ^@ NM_001203.2(BMPR1B):c.*1013C>T http://identifiers.org/clinvar/348673 ^@ NM_003023.4(SH3BP2):c.*4329_*4330delTA http://identifiers.org/clinvar/348677 ^@ NM_003023.4(SH3BP2):c.*4817_*4818dupTT http://identifiers.org/clinvar/345428 ^@ NM_020208.3(SLC6A20):c.26C>G (p.Ala9Gly) http://identifiers.org/clinvar/350150 ^@ NM_001203.2(BMPR1B):c.*1157A>G http://identifiers.org/clinvar/345430 ^@ NM_020208.3(SLC6A20):c.-49T>A http://identifiers.org/clinvar/345431 ^@ NM_020208.3(SLC6A20):c.-66C>A http://identifiers.org/clinvar/345067 ^@ NM_198056.2(SCN5A):c.*1744C>G http://identifiers.org/clinvar/345077 ^@ NM_198056.2(SCN5A):c.*1453dupA http://identifiers.org/clinvar/345084 ^@ NM_198056.2(SCN5A):c.*1048G>A http://identifiers.org/clinvar/348681 ^@ NM_003023.4(SH3BP2):c.*5109C>T http://identifiers.org/clinvar/348685 ^@ NM_003023.4(SH3BP2):c.*5352T>C http://identifiers.org/clinvar/345089 ^@ NM_198056.2(SCN5A):c.*945C>A http://identifiers.org/clinvar/345090 ^@ NM_198056.2(SCN5A):c.*920G>C http://identifiers.org/clinvar/345455 ^@ NM_024513.3(FYCO1):c.*2693_*2694dupTT http://identifiers.org/clinvar/345107 ^@ NM_198056.2(SCN5A):c.*159C>T http://identifiers.org/clinvar/348688 ^@ NM_003023.4(SH3BP2):c.*5613C>T http://identifiers.org/clinvar/345457 ^@ NM_024513.3(FYCO1):c.*2611A>G http://identifiers.org/clinvar/345458 ^@ NM_024513.3(FYCO1):c.*2557G>A http://identifiers.org/clinvar/345460 ^@ NM_024513.3(FYCO1):c.*2307C>G http://identifiers.org/clinvar/350157 ^@ NM_001203.2(BMPR1B):c.*2125G>T http://identifiers.org/clinvar/345473 ^@ NM_024513.3(FYCO1):c.*1185A>T http://identifiers.org/clinvar/350164 ^@ NM_001203.2(BMPR1B):c.*2257C>G http://identifiers.org/clinvar/350173 ^@ NM_001203.2(BMPR1B):c.*3101A>G http://identifiers.org/clinvar/348695 ^@ NM_003023.4(SH3BP2):c.*5965A>C http://identifiers.org/clinvar/350179 ^@ NM_001203.2(BMPR1B):c.*3328A>G http://identifiers.org/clinvar/350191 ^@ NM_020041.2(SLC2A9):c.*129C>A http://identifiers.org/clinvar/350196 ^@ NM_020041.2(SLC2A9):c.1413C>A (p.Phe471Leu) http://identifiers.org/clinvar/345111 ^@ NM_198056.2(SCN5A):c.6033C>A (p.Asp2011Glu) http://identifiers.org/clinvar/350198 ^@ NM_020041.2(SLC2A9):c.1392T>C (p.Ala464=) http://identifiers.org/clinvar/348707 ^@ NM_003023.4(SH3BP2):c.*6419_*6420dupAA http://identifiers.org/clinvar/350205 ^@ NM_020041.2(SLC2A9):c.1113+9A>C http://identifiers.org/clinvar/350211 ^@ NM_020041.2(SLC2A9):c.898C>T (p.Arg300Cys) http://identifiers.org/clinvar/348706 ^@ NM_003023.4(SH3BP2):c.*6420dupA http://identifiers.org/clinvar/348710 ^@ NM_003023.4(SH3BP2):c.*6592G>T http://identifiers.org/clinvar/348712 ^@ NM_003023.4(SH3BP2):c.*6660A>G http://identifiers.org/clinvar/345477 ^@ NM_024513.3(FYCO1):c.*810G>A http://identifiers.org/clinvar/345480 ^@ NM_024513.3(FYCO1):c.*678A>G http://identifiers.org/clinvar/345116 ^@ NM_198056.2(SCN5A):c.4671C>T (p.Ile1557=) http://identifiers.org/clinvar/345125 ^@ NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) http://identifiers.org/clinvar/348717 ^@ NM_003023.4(SH3BP2):c.*7167delT http://identifiers.org/clinvar/345482 ^@ NM_024513.3(FYCO1):c.*654T>C http://identifiers.org/clinvar/345486 ^@ NM_024513.3(FYCO1):c.*455A>G http://identifiers.org/clinvar/345488 ^@ NM_024513.3(FYCO1):c.*308A>G http://identifiers.org/clinvar/350215 ^@ NM_020041.2(SLC2A9):c.844G>A (p.Val282Ile) http://identifiers.org/clinvar/347008 ^@ NM_000253.3(MTTP):c.-252G>C http://identifiers.org/clinvar/347013 ^@ NM_000253.3(MTTP):c.-149C>A http://identifiers.org/clinvar/347014 ^@ NM_000253.3(MTTP):c.-84T>C http://identifiers.org/clinvar/345133 ^@ NM_017875.2(SLC25A38):c.-325G>C http://identifiers.org/clinvar/345140 ^@ NM_017875.2(SLC25A38):c.-209A>G http://identifiers.org/clinvar/348722 ^@ NM_025132.3(WDR19):c.-15G>T http://identifiers.org/clinvar/348724 ^@ NM_025132.3(WDR19):c.198A>T (p.Gly66=) http://identifiers.org/clinvar/348728 ^@ NM_025132.3(WDR19):c.935T>C (p.Ile312Thr) http://identifiers.org/clinvar/345498 ^@ NM_024513.3(FYCO1):c.3993C>T (p.Pro1331=) http://identifiers.org/clinvar/347015 ^@ NM_000253.3(MTTP):c.-82C>T http://identifiers.org/clinvar/347019 ^@ NM_000253.3(MTTP):c.39C>G (p.Ser13=) http://identifiers.org/clinvar/345506 ^@ NM_024513.3(FYCO1):c.2815G>C (p.Ala939Pro) http://identifiers.org/clinvar/345508 ^@ NM_024513.3(FYCO1):c.2718T>C (p.Ala906=) http://identifiers.org/clinvar/345142 ^@ NM_017875.2(SLC25A38):c.-69C>T http://identifiers.org/clinvar/347020 ^@ NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) http://identifiers.org/clinvar/345511 ^@ NM_024513.3(FYCO1):c.2200G>C (p.Glu734Gln) http://identifiers.org/clinvar/347021 ^@ NM_000253.3(MTTP):c.294G>C (p.Glu98Asp) http://identifiers.org/clinvar/345515 ^@ NM_024513.3(FYCO1):c.2006G>A (p.Ser669Asn) http://identifiers.org/clinvar/348732 ^@ NM_025132.3(WDR19):c.1248T>C (p.Asn416=) http://identifiers.org/clinvar/347023 ^@ NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) http://identifiers.org/clinvar/345517 ^@ NM_024513.3(FYCO1):c.1933G>A (p.Asp645Asn) http://identifiers.org/clinvar/345520 ^@ NM_024513.3(FYCO1):c.1676C>T (p.Pro559Leu) http://identifiers.org/clinvar/345526 ^@ NM_024513.3(FYCO1):c.1248G>A (p.Lys416=) http://identifiers.org/clinvar/347025 ^@ NM_000253.3(MTTP):c.502G>A (p.Val168Ile) http://identifiers.org/clinvar/347027 ^@ NM_000253.3(MTTP):c.695C>T (p.Ala232Val) http://identifiers.org/clinvar/345527 ^@ NM_024513.3(FYCO1):c.1144G>A (p.Ala382Thr) http://identifiers.org/clinvar/345535 ^@ NM_024513.3(FYCO1):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/345539 ^@ NM_024513.3(FYCO1):c.713A>C (p.Glu238Ala) http://identifiers.org/clinvar/345146 ^@ NM_017875.2(SLC25A38):c.288A>G (p.Arg96=) http://identifiers.org/clinvar/347028 ^@ NM_000253.3(MTTP):c.799T>C (p.Leu267=) http://identifiers.org/clinvar/345542 ^@ NM_024513.3(FYCO1):c.150G>A (p.Glu50=) http://identifiers.org/clinvar/347039 ^@ NM_000253.3(MTTP):c.1888A>G (p.Thr630Ala) http://identifiers.org/clinvar/345543 ^@ NM_024513.3(FYCO1):c.-214C>T http://identifiers.org/clinvar/345545 ^@ NM_002222.5(ITPR1):c.255C>T (p.Asp85=) http://identifiers.org/clinvar/348737 ^@ NM_025132.3(WDR19):c.1595T>C (p.Ile532Thr) http://identifiers.org/clinvar/347040 ^@ NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) http://identifiers.org/clinvar/345566 ^@ NM_002222.5(ITPR1):c.819A>G (p.Thr273=) http://identifiers.org/clinvar/345612 ^@ NM_002222.5(ITPR1):c.1206+10G>A http://identifiers.org/clinvar/345149 ^@ NM_017875.2(SLC25A38):c.462G>A (p.Gly154=) http://identifiers.org/clinvar/348738 ^@ NM_025132.3(WDR19):c.1839A>G (p.Leu613=) http://identifiers.org/clinvar/348741 ^@ NM_025132.3(WDR19):c.2218T>C (p.Tyr740His) http://identifiers.org/clinvar/348747 ^@ NM_025132.3(WDR19):c.3249T>C (p.Asp1083=) http://identifiers.org/clinvar/348750 ^@ NM_025132.3(WDR19):c.3362A>G (p.Asn1121Ser) http://identifiers.org/clinvar/345641 ^@ NM_002222.5(ITPR1):c.1257G>A (p.Pro419=) http://identifiers.org/clinvar/348753 ^@ NM_025132.3(WDR19):c.3602G>A (p.Cys1201Tyr) http://identifiers.org/clinvar/347052 ^@ NM_000253.3(MTTP):c.*279C>G http://identifiers.org/clinvar/347053 ^@ NM_000253.3(MTTP):c.*382T>C http://identifiers.org/clinvar/347063 ^@ NM_000253.3(MTTP):c.*1118C>T http://identifiers.org/clinvar/350245 ^@ NM_012073.4(CCT5):c.-23G>A http://identifiers.org/clinvar/345684 ^@ NM_002222.5(ITPR1):c.1435G>A (p.Val479Ile) http://identifiers.org/clinvar/350250 ^@ NM_012073.4(CCT5):c.531-10T>G http://identifiers.org/clinvar/348767 ^@ NM_004181.4(UCHL1):c.-16C>T http://identifiers.org/clinvar/345155 ^@ NM_017875.2(SLC25A38):c.*404G>A http://identifiers.org/clinvar/348768 ^@ NM_004181.4(UCHL1):c.33+5G>C http://identifiers.org/clinvar/345706 ^@ NM_002222.5(ITPR1):c.1626C>T (p.Tyr542=) http://identifiers.org/clinvar/350251 ^@ NM_012073.4(CCT5):c.648C>G (p.Gly216=) http://identifiers.org/clinvar/350257 ^@ NM_012073.4(CCT5):c.1317+10C>A http://identifiers.org/clinvar/350260 ^@ NM_012073.4(CCT5):c.1474G>C (p.Asp492His) http://identifiers.org/clinvar/350272 ^@ NM_012073.4(CCT5):c.*420T>C http://identifiers.org/clinvar/345546 ^@ NM_147196.2(TMIE):c.-154G>A http://identifiers.org/clinvar/345547 ^@ NM_147196.2(TMIE):c.-37C>A http://identifiers.org/clinvar/345548 ^@ NM_147196.2(TMIE):c.144A>G (p.Thr48=) http://identifiers.org/clinvar/348778 ^@ NM_004181.4(UCHL1):c.*309T>C http://identifiers.org/clinvar/350282 ^@ NM_012073.4(CCT5):c.*920dupA http://identifiers.org/clinvar/350286 ^@ NM_012073.4(CCT5):c.*1087A>T http://identifiers.org/clinvar/350287 ^@ NM_012073.4(CCT5):c.*1126T>A http://identifiers.org/clinvar/350289 ^@ NM_012073.4(CCT5):c.*1239C>G http://identifiers.org/clinvar/345549 ^@ NM_147196.2(TMIE):c.366_368delTAA (p.Asp122_Lys123delinsGlu) http://identifiers.org/clinvar/345550 ^@ NM_147196.2(TMIE):c.*51C>T http://identifiers.org/clinvar/348780 ^@ NM_003924.3(PHOX2B):c.*1662A>T http://identifiers.org/clinvar/345559 ^@ NM_147196.2(TMIE):c.*975G>A http://identifiers.org/clinvar/348781 ^@ NM_003924.3(PHOX2B):c.*1644A>T http://identifiers.org/clinvar/345157 ^@ NM_017875.2(SLC25A38):c.*472G>T http://identifiers.org/clinvar/350290 ^@ NM_012073.4(CCT5):c.*1377C>G http://identifiers.org/clinvar/345560 ^@ NM_147196.2(TMIE):c.*1000C>T http://identifiers.org/clinvar/350291 ^@ NM_012073.4(CCT5):c.*1401G>A http://identifiers.org/clinvar/345160 ^@ NM_017875.2(SLC25A38):c.*642delT http://identifiers.org/clinvar/345162 ^@ NM_018075.4(ANO10):c.*452A>G http://identifiers.org/clinvar/345170 ^@ NM_018075.4(ANO10):c.*196C>A http://identifiers.org/clinvar/345713 ^@ NM_002222.5(ITPR1):c.2382G>A (p.Ser794=) http://identifiers.org/clinvar/350301 ^@ NM_139281.2(WDR36):c.331-7dupT http://identifiers.org/clinvar/348782 ^@ NM_003924.3(PHOX2B):c.*1627G>A http://identifiers.org/clinvar/350304 ^@ NM_139281.2(WDR36):c.402C>T (p.Gly134=) http://identifiers.org/clinvar/348784 ^@ NM_003924.3(PHOX2B):c.*1401C>G http://identifiers.org/clinvar/348788 ^@ NM_003924.3(PHOX2B):c.*1347A>G http://identifiers.org/clinvar/348791 ^@ NM_003924.3(PHOX2B):c.*1156C>A http://identifiers.org/clinvar/345715 ^@ NM_002222.5(ITPR1):c.2394G>A (p.Ser798=) http://identifiers.org/clinvar/350305 ^@ NM_139281.2(WDR36):c.423T>C (p.Tyr141=) http://identifiers.org/clinvar/348792 ^@ NM_003924.3(PHOX2B):c.*1126C>G http://identifiers.org/clinvar/350307 ^@ NM_139281.2(WDR36):c.540T>A (p.Thr180=) http://identifiers.org/clinvar/348796 ^@ NM_003924.3(PHOX2B):c.*638G>C http://identifiers.org/clinvar/348802 ^@ NM_003924.3(PHOX2B):c.*80G>A http://identifiers.org/clinvar/348804 ^@ NM_003924.3(PHOX2B):c.*58G>C http://identifiers.org/clinvar/350315 ^@ NM_139281.2(WDR36):c.1569G>A (p.Met523Ile) http://identifiers.org/clinvar/345721 ^@ NM_002222.5(ITPR1):c.2994C>G (p.Ser998=) http://identifiers.org/clinvar/345172 ^@ NM_018075.4(ANO10):c.*91G>A http://identifiers.org/clinvar/345723 ^@ NM_002222.5(ITPR1):c.3156C>T (p.His1052=) http://identifiers.org/clinvar/345174 ^@ NM_018075.4(ANO10):c.*74dupG http://identifiers.org/clinvar/350317 ^@ NM_139281.2(WDR36):c.1642G>A (p.Asp548Asn) http://identifiers.org/clinvar/350337 ^@ NM_139281.2(WDR36):c.*45C>G http://identifiers.org/clinvar/348805 ^@ NM_003924.3(PHOX2B):c.*30_*32dupGCG http://identifiers.org/clinvar/348807 ^@ NM_003924.3(PHOX2B):c.*19C>A http://identifiers.org/clinvar/348820 ^@ NM_001080476.2(GRXCR1):c.385-7C>T http://identifiers.org/clinvar/345725 ^@ NM_002222.5(ITPR1):c.3255+12C>T http://identifiers.org/clinvar/348824 ^@ NM_001080476.2(GRXCR1):c.825G>A (p.Thr275=) http://identifiers.org/clinvar/350341 ^@ NM_139281.2(WDR36):c.*120A>G http://identifiers.org/clinvar/348836 ^@ NM_000087.3(CNGA1):c.1632C>T (p.Phe544=) http://identifiers.org/clinvar/345175 ^@ NM_018075.4(ANO10):c.1864A>G (p.Met622Val) http://identifiers.org/clinvar/348837 ^@ NM_000087.3(CNGA1):c.1618G>A (p.Asp540Asn) http://identifiers.org/clinvar/348843 ^@ NM_000087.3(CNGA1):c.495T>C (p.Tyr165=) http://identifiers.org/clinvar/348846 ^@ NM_000087.3(CNGA1):c.-110-10A>T http://identifiers.org/clinvar/345176 ^@ NM_018075.4(ANO10):c.1817A>G (p.Lys606Arg) http://identifiers.org/clinvar/350348 ^@ NM_139281.2(WDR36):c.*413T>C http://identifiers.org/clinvar/345186 ^@ NM_018075.4(ANO10):c.1218+4A>T http://identifiers.org/clinvar/350353 ^@ NM_139281.2(WDR36):c.*857A>G http://identifiers.org/clinvar/345730 ^@ NM_002222.5(ITPR1):c.3587C>T (p.Ala1196Val) http://identifiers.org/clinvar/345570 ^@ NM_000258.2(MYL3):c.219C>T (p.Tyr73=) http://identifiers.org/clinvar/348850 ^@ NM_000232.4(SGCB):c.*2956_*2960delATAAA http://identifiers.org/clinvar/350364 ^@ NM_139281.2(WDR36):c.*1080dupG http://identifiers.org/clinvar/345573 ^@ NM_000316.2(PTH1R):c.-166G>A http://identifiers.org/clinvar/348856 ^@ NM_000232.4(SGCB):c.*2351C>T http://identifiers.org/clinvar/345189 ^@ NM_018075.4(ANO10):c.980A>G (p.Tyr327Cys) http://identifiers.org/clinvar/345192 ^@ NM_018075.4(ANO10):c.627T>C (p.Ala209=) http://identifiers.org/clinvar/345576 ^@ NM_000316.2(PTH1R):c.75+12G>A http://identifiers.org/clinvar/350372 ^@ NM_139281.2(WDR36):c.*1448G>A http://identifiers.org/clinvar/350377 ^@ NM_139281.2(WDR36):c.*1741C>T http://identifiers.org/clinvar/345732 ^@ NM_002222.5(ITPR1):c.3633C>T (p.Ala1211=) http://identifiers.org/clinvar/345578 ^@ NM_000316.2(PTH1R):c.144C>T (p.Cys48=) http://identifiers.org/clinvar/345580 ^@ NM_000316.2(PTH1R):c.226G>C (p.Gly76Arg) http://identifiers.org/clinvar/345193 ^@ NM_018075.4(ANO10):c.616delG (p.Glu206Lysfs) http://identifiers.org/clinvar/350378 ^@ NM_139281.2(WDR36):c.*1775A>G http://identifiers.org/clinvar/345196 ^@ NM_018075.4(ANO10):c.192A>G (p.Leu64=) http://identifiers.org/clinvar/345288 ^@ NM_182760.3(SUMF1):c.*917G>T http://identifiers.org/clinvar/348857 ^@ NM_000232.4(SGCB):c.*2286T>A http://identifiers.org/clinvar/348865 ^@ NM_000232.4(SGCB):c.*1566T>C http://identifiers.org/clinvar/348869 ^@ NM_000232.4(SGCB):c.*1118G>T http://identifiers.org/clinvar/345292 ^@ NM_182760.3(SUMF1):c.*809C>T http://identifiers.org/clinvar/350387 ^@ NM_139281.2(WDR36):c.*2576G>C http://identifiers.org/clinvar/350389 ^@ NM_139281.2(WDR36):c.*2636A>T http://identifiers.org/clinvar/345586 ^@ NM_000316.2(PTH1R):c.375G>A (p.Glu125=) http://identifiers.org/clinvar/345589 ^@ NM_000316.2(PTH1R):c.543+14T>C http://identifiers.org/clinvar/350393 ^@ NM_139281.2(WDR36):c.*2669A>T http://identifiers.org/clinvar/350395 ^@ NM_139281.2(WDR36):c.*2746A>G http://identifiers.org/clinvar/345594 ^@ NM_000316.2(PTH1R):c.1255G>A (p.Val419Ile) http://identifiers.org/clinvar/348873 ^@ NM_000232.4(SGCB):c.*1002G>A http://identifiers.org/clinvar/348876 ^@ NM_000232.4(SGCB):c.*669T>G http://identifiers.org/clinvar/345597 ^@ NM_000316.2(PTH1R):c.1395+15G>A http://identifiers.org/clinvar/348886 ^@ NM_000232.4(SGCB):c.-25G>A http://identifiers.org/clinvar/348890 ^@ NM_006206.4(PDGFRA):c.-284G>A http://identifiers.org/clinvar/348891 ^@ NM_006206.4(PDGFRA):c.-284G>T http://identifiers.org/clinvar/350409 ^@ NM_000038.5(APC):c.336T>A (p.Pro112=) http://identifiers.org/clinvar/350412 ^@ NM_000038.5(APC):c.4833G>A (p.Gln1611=) http://identifiers.org/clinvar/345295 ^@ NM_182760.3(SUMF1):c.*675A>C http://identifiers.org/clinvar/345300 ^@ NM_182760.3(SUMF1):c.*548T>C http://identifiers.org/clinvar/345302 ^@ NM_182760.3(SUMF1):c.*496delT http://identifiers.org/clinvar/350413 ^@ NM_000038.5(APC):c.5050T>C (p.Phe1684Leu) http://identifiers.org/clinvar/350414 ^@ NM_000038.5(APC):c.5194A>G (p.Met1732Val) http://identifiers.org/clinvar/345601 ^@ NM_000316.2(PTH1R):c.1644C>T (p.Leu548=) http://identifiers.org/clinvar/345733 ^@ NM_002222.5(ITPR1):c.3873T>C (p.Asn1291=) http://identifiers.org/clinvar/345619 ^@ NM_015175.2(NBEAL2):c.690G>C (p.Leu230=) http://identifiers.org/clinvar/345621 ^@ NM_015175.2(NBEAL2):c.1053G>A (p.Ala351=) http://identifiers.org/clinvar/345624 ^@ NM_015175.2(NBEAL2):c.1271G>A (p.Arg424Gln) http://identifiers.org/clinvar/345626 ^@ NM_015175.2(NBEAL2):c.1393G>A (p.Ala465Thr) http://identifiers.org/clinvar/345628 ^@ NM_015175.2(NBEAL2):c.1600C>T (p.Arg534Cys) http://identifiers.org/clinvar/345305 ^@ NM_182760.3(SUMF1):c.*445A>G http://identifiers.org/clinvar/350416 ^@ NM_000038.5(APC):c.5894A>C (p.His1965Pro) http://identifiers.org/clinvar/345644 ^@ NM_015175.2(NBEAL2):c.2557-5C>G http://identifiers.org/clinvar/350417 ^@ NM_000038.5(APC):c.6316G>C (p.Glu2106Gln) http://identifiers.org/clinvar/350419 ^@ NM_000038.5(APC):c.6556A>C (p.Lys2186Gln) http://identifiers.org/clinvar/350420 ^@ NM_000038.5(APC):c.6624A>G (p.Glu2208=) http://identifiers.org/clinvar/345648 ^@ NM_015175.2(NBEAL2):c.3036C>T (p.Ser1012=) http://identifiers.org/clinvar/345649 ^@ NM_015175.2(NBEAL2):c.3087C>T (p.Leu1029=) http://identifiers.org/clinvar/348894 ^@ NM_006206.4(PDGFRA):c.219T>C (p.Asn73=) http://identifiers.org/clinvar/345306 ^@ NM_182760.3(SUMF1):c.*398C>T http://identifiers.org/clinvar/350422 ^@ NM_000038.5(APC):c.7781C>G (p.Ser2594Cys) http://identifiers.org/clinvar/345308 ^@ NM_182760.3(SUMF1):c.*291G>A http://identifiers.org/clinvar/345653 ^@ NM_015175.2(NBEAL2):c.3327C>T (p.Asp1109=) http://identifiers.org/clinvar/348895 ^@ NM_006206.4(PDGFRA):c.672G>A (p.Val224=) http://identifiers.org/clinvar/345311 ^@ NM_182760.3(SUMF1):c.*152C>G http://identifiers.org/clinvar/350435 ^@ NM_000038.5(APC):c.*645A>G http://identifiers.org/clinvar/348896 ^@ NM_006206.4(PDGFRA):c.827C>T (p.Thr276Met) http://identifiers.org/clinvar/345654 ^@ NM_015175.2(NBEAL2):c.3373G>A (p.Asp1125Asn) http://identifiers.org/clinvar/345198 ^@ NM_018075.4(ANO10):c.-31G>C http://identifiers.org/clinvar/350436 ^@ NM_000038.5(APC):c.*714G>T http://identifiers.org/clinvar/350443 ^@ NM_000038.5(APC):c.*1236_*1238delTAT http://identifiers.org/clinvar/345201 ^@ NM_018075.4(ANO10):c.-83T>C http://identifiers.org/clinvar/348902 ^@ NM_006206.4(PDGFRA):c.1471G>A (p.Ala491Thr) http://identifiers.org/clinvar/348903 ^@ NM_006206.4(PDGFRA):c.1821G>C (p.Val607=) http://identifiers.org/clinvar/348905 ^@ NM_006206.4(PDGFRA):c.2266G>A (p.Asp756Asn) http://identifiers.org/clinvar/345205 ^@ NM_018075.4(ANO10):c.-140G>A http://identifiers.org/clinvar/345207 ^@ NM_016006.4(ABHD5):c.-91C>G http://identifiers.org/clinvar/348909 ^@ NM_006206.4(PDGFRA):c.3228C>G (p.Ile1076Met) http://identifiers.org/clinvar/350448 ^@ NM_000038.5(APC):c.*1555C>T http://identifiers.org/clinvar/348915 ^@ NM_006206.4(PDGFRA):c.*332G>A http://identifiers.org/clinvar/350451 ^@ NM_000038.5(APC):c.*1840A>G http://identifiers.org/clinvar/350453 ^@ NM_000038.5(APC):c.*1960C>G http://identifiers.org/clinvar/350457 ^@ NM_000414.3(HSD17B4):c.-75C>G http://identifiers.org/clinvar/350458 ^@ NM_000414.3(HSD17B4):c.-28C>T http://identifiers.org/clinvar/345658 ^@ NM_015175.2(NBEAL2):c.4000C>G (p.Pro1334Ala) http://identifiers.org/clinvar/345662 ^@ NM_015175.2(NBEAL2):c.4246G>A (p.Gly1416Ser) http://identifiers.org/clinvar/345663 ^@ NM_015175.2(NBEAL2):c.4257G>A (p.Pro1419=) http://identifiers.org/clinvar/345666 ^@ NM_015175.2(NBEAL2):c.4532C>T (p.Ala1511Val) http://identifiers.org/clinvar/350460 ^@ NM_000414.3(HSD17B4):c.161C>A (p.Ala54Asp) http://identifiers.org/clinvar/345667 ^@ NM_015175.2(NBEAL2):c.4669C>G (p.Leu1557Val) http://identifiers.org/clinvar/350465 ^@ NM_000414.3(HSD17B4):c.1131C>T (p.Phe377=) http://identifiers.org/clinvar/345208 ^@ NM_016006.4(ABHD5):c.-68C>G http://identifiers.org/clinvar/345673 ^@ NM_015175.2(NBEAL2):c.5356A>T (p.Thr1786Ser) http://identifiers.org/clinvar/345679 ^@ NM_015175.2(NBEAL2):c.6318C>T (p.Tyr2106=) http://identifiers.org/clinvar/348916 ^@ NM_006206.4(PDGFRA):c.*374A>C http://identifiers.org/clinvar/345681 ^@ NM_015175.2(NBEAL2):c.6413G>A (p.Arg2138Lys) http://identifiers.org/clinvar/345691 ^@ NM_015175.2(NBEAL2):c.7513G>A (p.Val2505Ile) http://identifiers.org/clinvar/350469 ^@ NM_000414.3(HSD17B4):c.1854+7T>C http://identifiers.org/clinvar/345210 ^@ NM_016006.4(ABHD5):c.-64G>A http://identifiers.org/clinvar/345216 ^@ NM_016006.4(ABHD5):c.39C>T (p.Thr13=) http://identifiers.org/clinvar/345225 ^@ NM_016006.4(ABHD5):c.1025A>G (p.Lys342Arg) http://identifiers.org/clinvar/348918 ^@ NM_006206.4(PDGFRA):c.*534A>G http://identifiers.org/clinvar/345231 ^@ NM_016006.4(ABHD5):c.*707A>G http://identifiers.org/clinvar/348929 ^@ NM_006206.4(PDGFRA):c.*1429C>T http://identifiers.org/clinvar/350470 ^@ NM_000414.3(HSD17B4):c.2025G>A (p.Val675=) http://identifiers.org/clinvar/345241 ^@ NM_016006.4(ABHD5):c.*1466T>C http://identifiers.org/clinvar/350472 ^@ NM_000414.3(HSD17B4):c.*134C>T http://identifiers.org/clinvar/345243 ^@ NM_016006.4(ABHD5):c.*1568T>C http://identifiers.org/clinvar/345247 ^@ NM_016006.4(ABHD5):c.*1756G>T http://identifiers.org/clinvar/345250 ^@ NM_016006.4(ABHD5):c.*1834C>G http://identifiers.org/clinvar/345255 ^@ NM_016006.4(ABHD5):c.*1957G>T http://identifiers.org/clinvar/345256 ^@ NM_016006.4(ABHD5):c.*2057A>T http://identifiers.org/clinvar/348930 ^@ NM_006206.4(PDGFRA):c.*1511C>A http://identifiers.org/clinvar/345697 ^@ NM_015175.2(NBEAL2):c.*104delG http://identifiers.org/clinvar/345700 ^@ NM_015175.2(NBEAL2):c.*179C>A http://identifiers.org/clinvar/348932 ^@ NM_006206.4(PDGFRA):c.*1561T>C http://identifiers.org/clinvar/348935 ^@ NM_006206.4(PDGFRA):c.*1821A>C http://identifiers.org/clinvar/348937 ^@ NM_006206.4(PDGFRA):c.*1939T>C http://identifiers.org/clinvar/345741 ^@ NM_002222.5(ITPR1):c.4782C>T (p.Ser1594=) http://identifiers.org/clinvar/350473 ^@ NM_000414.3(HSD17B4):c.*135T>G http://identifiers.org/clinvar/350474 ^@ NM_000414.3(HSD17B4):c.*235T>C http://identifiers.org/clinvar/345742 ^@ NM_002222.5(ITPR1):c.4854C>T (p.Pro1618=) http://identifiers.org/clinvar/350478 ^@ NM_005460.3(SNCAIP):c.-66C>T http://identifiers.org/clinvar/345262 ^@ NM_016006.4(ABHD5):c.*2445T>G http://identifiers.org/clinvar/350488 ^@ NM_005460.3(SNCAIP):c.665C>T (p.Ser222Leu) http://identifiers.org/clinvar/350493 ^@ NM_005460.3(SNCAIP):c.1134C>T (p.Leu378=) http://identifiers.org/clinvar/348942 ^@ NM_006206.4(PDGFRA):c.*2336T>C http://identifiers.org/clinvar/345743 ^@ NM_002222.5(ITPR1):c.4920-7delC http://identifiers.org/clinvar/348945 ^@ NM_006206.4(PDGFRA):c.*2494C>A http://identifiers.org/clinvar/345746 ^@ NM_002222.5(ITPR1):c.5155G>A (p.Gly1719Arg) http://identifiers.org/clinvar/350495 ^@ NM_005460.3(SNCAIP):c.1510C>T (p.Leu504=) http://identifiers.org/clinvar/345264 ^@ NM_016006.4(ABHD5):c.*2508A>G http://identifiers.org/clinvar/350501 ^@ NM_005460.3(SNCAIP):c.2148C>T (p.Ser716=) http://identifiers.org/clinvar/345274 ^@ NM_016006.4(ABHD5):c.*3293_*3296delACAG http://identifiers.org/clinvar/350504 ^@ NM_005460.3(SNCAIP):c.2736C>G (p.Ser912Arg) http://identifiers.org/clinvar/345747 ^@ NM_002222.5(ITPR1):c.5164+4C>T http://identifiers.org/clinvar/350505 ^@ NM_005460.3(SNCAIP):c.*46T>G http://identifiers.org/clinvar/345751 ^@ NM_002222.5(ITPR1):c.5340C>G (p.Gly1780=) http://identifiers.org/clinvar/345275 ^@ NM_016006.4(ABHD5):c.*3372A>C http://identifiers.org/clinvar/350512 ^@ NM_198253.2(TERT):c.*230T>C http://identifiers.org/clinvar/350514 ^@ NM_198253.2(TERT):c.*104C>T http://identifiers.org/clinvar/345752 ^@ NM_002222.5(ITPR1):c.5577T>C (p.Asp1859=) http://identifiers.org/clinvar/345282 ^@ NM_016006.4(ABHD5):c.*3833G>T http://identifiers.org/clinvar/345314 ^@ NM_182760.3(SUMF1):c.955-6C>G http://identifiers.org/clinvar/345317 ^@ NM_182760.3(SUMF1):c.606G>A (p.Pro202=) http://identifiers.org/clinvar/345782 ^@ NM_002222.5(ITPR1):c.7320T>C (p.Asp2440=) http://identifiers.org/clinvar/350629 ^@ NM_198253.2(TERT):c.2781A>G (p.Leu927=) http://identifiers.org/clinvar/350520 ^@ NM_001182.4(ALDH7A1):c.*3022T>C http://identifiers.org/clinvar/345895 ^@ NM_002222.5(ITPR1):c.8059A>G (p.Met2687Val) http://identifiers.org/clinvar/345898 ^@ NM_002222.5(ITPR1):c.*48T>G http://identifiers.org/clinvar/345899 ^@ NM_002222.5(ITPR1):c.*121G>C http://identifiers.org/clinvar/345325 ^@ NM_182760.3(SUMF1):c.251G>A (p.Arg84Gln) http://identifiers.org/clinvar/345326 ^@ NM_182760.3(SUMF1):c.179C>T (p.Ala60Val) http://identifiers.org/clinvar/345766 ^@ NM_033629.4(TREX1):c.-127G>C http://identifiers.org/clinvar/350533 ^@ NM_001182.4(ALDH7A1):c.*2464dupT http://identifiers.org/clinvar/345328 ^@ NM_182760.3(SUMF1):c.95C>T (p.Ala32Val) http://identifiers.org/clinvar/350536 ^@ NM_001182.4(ALDH7A1):c.*2387A>G http://identifiers.org/clinvar/350540 ^@ NM_001182.4(ALDH7A1):c.*2126G>A http://identifiers.org/clinvar/350541 ^@ NM_001182.4(ALDH7A1):c.*1839G>A http://identifiers.org/clinvar/345329 ^@ NM_182760.3(SUMF1):c.77C>T (p.Ser26Leu) http://identifiers.org/clinvar/345330 ^@ NM_182760.3(SUMF1):c.-25C>G http://identifiers.org/clinvar/348951 ^@ NM_006206.4(PDGFRA):c.*2840A>G http://identifiers.org/clinvar/345335 ^@ NM_002222.5(ITPR1):c.-103C>T http://identifiers.org/clinvar/348957 ^@ NM_000222.2(KIT):c.*149C>T http://identifiers.org/clinvar/350542 ^@ NM_001182.4(ALDH7A1):c.*1836C>A http://identifiers.org/clinvar/350546 ^@ NM_001182.4(ALDH7A1):c.*1748T>A http://identifiers.org/clinvar/345338 ^@ NM_002222.5(ITPR1):c.57G>A (p.Ala19=) http://identifiers.org/clinvar/345345 ^@ NM_020208.3(SLC6A20):c.*3404C>T http://identifiers.org/clinvar/345347 ^@ NM_020208.3(SLC6A20):c.*3118A>G http://identifiers.org/clinvar/348960 ^@ NM_000222.2(KIT):c.*252G>T http://identifiers.org/clinvar/348961 ^@ NM_000222.2(KIT):c.*352A>G http://identifiers.org/clinvar/348973 ^@ NM_000222.2(KIT):c.*1791G>A http://identifiers.org/clinvar/349002 ^@ NM_024592.4(SRD5A3):c.-100C>G http://identifiers.org/clinvar/350552 ^@ NM_001182.4(ALDH7A1):c.*1529A>G http://identifiers.org/clinvar/350556 ^@ NM_001182.4(ALDH7A1):c.*1368A>T http://identifiers.org/clinvar/350558 ^@ NM_001182.4(ALDH7A1):c.*1176G>A http://identifiers.org/clinvar/350559 ^@ NM_001182.4(ALDH7A1):c.*1112T>G http://identifiers.org/clinvar/349006 ^@ NM_024592.4(SRD5A3):c.110C>T (p.Pro37Leu) http://identifiers.org/clinvar/349007 ^@ NM_024592.4(SRD5A3):c.464A>G (p.Asn155Ser) http://identifiers.org/clinvar/349012 ^@ NM_024592.4(SRD5A3):c.*261A>G http://identifiers.org/clinvar/349018 ^@ NM_024592.4(SRD5A3):c.*377_*382delCACACA http://identifiers.org/clinvar/345776 ^@ NM_033629.4(TREX1):c.394C>G (p.Pro132Ala) http://identifiers.org/clinvar/350560 ^@ NM_001182.4(ALDH7A1):c.*1108G>A http://identifiers.org/clinvar/345353 ^@ NM_020208.3(SLC6A20):c.*2583T>C http://identifiers.org/clinvar/349025 ^@ NM_024592.4(SRD5A3):c.*1329T>C http://identifiers.org/clinvar/345366 ^@ NM_020208.3(SLC6A20):c.*1699T>C http://identifiers.org/clinvar/349026 ^@ NM_024592.4(SRD5A3):c.*1504A>G http://identifiers.org/clinvar/345778 ^@ NM_033629.4(TREX1):c.462T>C (p.Asp154=) http://identifiers.org/clinvar/349030 ^@ NM_024592.4(SRD5A3):c.*1706G>A http://identifiers.org/clinvar/345368 ^@ NM_020208.3(SLC6A20):c.*1602C>G http://identifiers.org/clinvar/349036 ^@ NM_024592.4(SRD5A3):c.*2111G>T http://identifiers.org/clinvar/349038 ^@ NM_024592.4(SRD5A3):c.*2134G>A http://identifiers.org/clinvar/345369 ^@ NM_020208.3(SLC6A20):c.*1596T>A http://identifiers.org/clinvar/350568 ^@ NM_001182.4(ALDH7A1):c.*980delC http://identifiers.org/clinvar/349039 ^@ NM_024592.4(SRD5A3):c.*2193G>T http://identifiers.org/clinvar/350574 ^@ NM_001182.4(ALDH7A1):c.*690T>C http://identifiers.org/clinvar/345370 ^@ NM_020208.3(SLC6A20):c.*1527A>G http://identifiers.org/clinvar/345389 ^@ NM_020208.3(SLC6A20):c.*548A>G http://identifiers.org/clinvar/345396 ^@ NM_020208.3(SLC6A20):c.1730C>A (p.Thr577Asn) http://identifiers.org/clinvar/345397 ^@ NM_020208.3(SLC6A20):c.1644C>G (p.Thr548=) http://identifiers.org/clinvar/345399 ^@ NM_020208.3(SLC6A20):c.1463+14G>A http://identifiers.org/clinvar/349040 ^@ NM_024592.4(SRD5A3):c.*2227G>A http://identifiers.org/clinvar/350577 ^@ NM_001182.4(ALDH7A1):c.*409delG http://identifiers.org/clinvar/349043 ^@ NM_024592.4(SRD5A3):c.*2368G>A http://identifiers.org/clinvar/345406 ^@ NM_020208.3(SLC6A20):c.1051A>C (p.Met351Leu) http://identifiers.org/clinvar/349044 ^@ NM_024592.4(SRD5A3):c.*2430C>T http://identifiers.org/clinvar/350578 ^@ NM_001182.4(ALDH7A1):c.*404G>A http://identifiers.org/clinvar/350582 ^@ NM_001182.4(ALDH7A1):c.1439T>C (p.Ile480Thr) http://identifiers.org/clinvar/349048 ^@ NM_024592.4(SRD5A3):c.*2804C>T http://identifiers.org/clinvar/349050 ^@ NM_024592.4(SRD5A3):c.*2844delC http://identifiers.org/clinvar/350583 ^@ NM_001182.4(ALDH7A1):c.1008+11C>T http://identifiers.org/clinvar/350589 ^@ NM_001182.4(ALDH7A1):c.-80T>G http://identifiers.org/clinvar/349066 ^@ NM_018475.4(TMEM165):c.506T>C (p.Ile169Thr) http://identifiers.org/clinvar/345407 ^@ NM_020208.3(SLC6A20):c.991A>C (p.Ser331Arg) http://identifiers.org/clinvar/345779 ^@ NM_033629.4(TREX1):c.536T>C (p.Leu179Pro) http://identifiers.org/clinvar/345410 ^@ NM_020208.3(SLC6A20):c.694A>G (p.Ile232Val) http://identifiers.org/clinvar/350591 ^@ NM_001182.4(ALDH7A1):c.-132A>C http://identifiers.org/clinvar/345416 ^@ NM_020208.3(SLC6A20):c.578G>C (p.Gly193Ala) http://identifiers.org/clinvar/345417 ^@ NM_020208.3(SLC6A20):c.521T>A (p.Leu174His) http://identifiers.org/clinvar/345418 ^@ NM_020208.3(SLC6A20):c.512C>T (p.Ala171Val) http://identifiers.org/clinvar/345433 ^@ NM_020208.3(SLC6A20):c.-99C>G http://identifiers.org/clinvar/345905 ^@ NM_002222.5(ITPR1):c.*643A>T http://identifiers.org/clinvar/350594 ^@ NM_005573.3(LMNB1):c.-708G>C http://identifiers.org/clinvar/345906 ^@ NM_002222.5(ITPR1):c.*668T>C http://identifiers.org/clinvar/350596 ^@ NM_005573.3(LMNB1):c.-701C>T http://identifiers.org/clinvar/345435 ^@ NM_024513.3(FYCO1):c.*3742T>A http://identifiers.org/clinvar/345438 ^@ NM_024513.3(FYCO1):c.*3502A>T http://identifiers.org/clinvar/350597 ^@ NM_005573.3(LMNB1):c.-688G>A http://identifiers.org/clinvar/349068 ^@ NM_018475.4(TMEM165):c.899-15T>C http://identifiers.org/clinvar/350604 ^@ NM_005573.3(LMNB1):c.-540G>A http://identifiers.org/clinvar/345442 ^@ NM_024513.3(FYCO1):c.*3283G>A http://identifiers.org/clinvar/350608 ^@ NM_005573.3(LMNB1):c.-314C>T http://identifiers.org/clinvar/349074 ^@ NM_018475.4(TMEM165):c.*505T>A http://identifiers.org/clinvar/350616 ^@ NM_005573.3(LMNB1):c.1023C>T (p.Asp341=) http://identifiers.org/clinvar/348975 ^@ NM_147127.4(EVC2):c.*394A>G http://identifiers.org/clinvar/348987 ^@ NM_147127.4(EVC2):c.3174G>A (p.Leu1058=) http://identifiers.org/clinvar/345443 ^@ NM_024513.3(FYCO1):c.*3257delT http://identifiers.org/clinvar/345449 ^@ NM_024513.3(FYCO1):c.*2837C>G http://identifiers.org/clinvar/350620 ^@ NM_005573.3(LMNB1):c.1560G>A (p.Ser520=) http://identifiers.org/clinvar/348991 ^@ NM_147127.4(EVC2):c.3055C>T (p.Arg1019Trp) http://identifiers.org/clinvar/348994 ^@ NM_147127.4(EVC2):c.2883A>C (p.Gly961=) http://identifiers.org/clinvar/350724 ^@ NM_198253.2(TERT):c.2391C>G (p.Ser797=) http://identifiers.org/clinvar/349000 ^@ NM_147127.4(EVC2):c.2667C>T (p.Phe889=) http://identifiers.org/clinvar/350631 ^@ NM_032446.2(MEGF10):c.-173G>A http://identifiers.org/clinvar/345454 ^@ NM_024513.3(FYCO1):c.*2695A>T http://identifiers.org/clinvar/345461 ^@ NM_024513.3(FYCO1):c.*2301A>G http://identifiers.org/clinvar/349059 ^@ NM_147127.4(EVC2):c.2359C>T (p.Arg787Trp) http://identifiers.org/clinvar/350632 ^@ NM_032446.2(MEGF10):c.-147A>C http://identifiers.org/clinvar/349061 ^@ NM_147127.4(EVC2):c.2248G>A (p.Glu750Lys) http://identifiers.org/clinvar/349078 ^@ NM_147127.4(EVC2):c.1846G>A (p.Ala616Thr) http://identifiers.org/clinvar/350634 ^@ NM_032446.2(MEGF10):c.-18-11C>T http://identifiers.org/clinvar/349080 ^@ NM_147127.4(EVC2):c.1730T>C (p.Met577Thr) http://identifiers.org/clinvar/349088 ^@ NM_147127.4(EVC2):c.1224C>T (p.Ala408=) http://identifiers.org/clinvar/349118 ^@ NM_006947.3(SRP72):c.133G>A (p.Val45Ile) http://identifiers.org/clinvar/345467 ^@ NM_024513.3(FYCO1):c.*1499delT http://identifiers.org/clinvar/350636 ^@ NM_032446.2(MEGF10):c.212G>A (p.Arg71Gln) http://identifiers.org/clinvar/349119 ^@ NM_006947.3(SRP72):c.144G>T (p.Leu48=) http://identifiers.org/clinvar/350637 ^@ NM_032446.2(MEGF10):c.259A>G (p.Met87Val) http://identifiers.org/clinvar/350640 ^@ NM_032446.2(MEGF10):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/349120 ^@ NM_006947.3(SRP72):c.294G>A (p.Leu98=) http://identifiers.org/clinvar/349130 ^@ NM_006947.3(SRP72):c.1650T>C (p.Asp550=) http://identifiers.org/clinvar/345469 ^@ NM_024513.3(FYCO1):c.*1415G>A http://identifiers.org/clinvar/345474 ^@ NM_024513.3(FYCO1):c.*1173C>T http://identifiers.org/clinvar/349133 ^@ NM_006947.3(SRP72):c.1704A>G (p.Pro568=) http://identifiers.org/clinvar/345913 ^@ NM_002222.5(ITPR1):c.*1081_*1085delTTCTT http://identifiers.org/clinvar/345916 ^@ NM_002222.5(ITPR1):c.*1169_*1170insAAA http://identifiers.org/clinvar/349135 ^@ NM_006947.3(SRP72):c.2004A>G (p.Lys668=) http://identifiers.org/clinvar/349138 ^@ NM_006947.3(SRP72):c.*139G>A http://identifiers.org/clinvar/345475 ^@ NM_024513.3(FYCO1):c.*1149C>G http://identifiers.org/clinvar/350644 ^@ NM_032446.2(MEGF10):c.1002C>T (p.His334=) http://identifiers.org/clinvar/349139 ^@ NM_006947.3(SRP72):c.*173T>C http://identifiers.org/clinvar/350647 ^@ NM_032446.2(MEGF10):c.1128T>A (p.His376Gln) http://identifiers.org/clinvar/350648 ^@ NM_032446.2(MEGF10):c.1215C>T (p.Tyr405=) http://identifiers.org/clinvar/350650 ^@ NM_032446.2(MEGF10):c.1435G>A (p.Gly479Arg) http://identifiers.org/clinvar/349141 ^@ NM_006947.3(SRP72):c.*221A>G http://identifiers.org/clinvar/345481 ^@ NM_024513.3(FYCO1):c.*662G>C http://identifiers.org/clinvar/345920 ^@ NM_002222.5(ITPR1):c.*1185C>A http://identifiers.org/clinvar/345921 ^@ NM_002222.5(ITPR1):c.*1196T>C http://identifiers.org/clinvar/345483 ^@ NM_024513.3(FYCO1):c.*620G>A http://identifiers.org/clinvar/345487 ^@ NM_024513.3(FYCO1):c.*315G>A http://identifiers.org/clinvar/350651 ^@ NM_032446.2(MEGF10):c.1564G>A (p.Gly522Arg) http://identifiers.org/clinvar/350655 ^@ NM_032446.2(MEGF10):c.1783C>G (p.Pro595Ala) http://identifiers.org/clinvar/349143 ^@ NM_006947.3(SRP72):c.*321A>G http://identifiers.org/clinvar/349146 ^@ NM_006947.3(SRP72):c.*442A>G http://identifiers.org/clinvar/349149 ^@ NM_006947.3(SRP72):c.*606A>T http://identifiers.org/clinvar/350659 ^@ NM_032446.2(MEGF10):c.2175C>T (p.Ser725=) http://identifiers.org/clinvar/350665 ^@ NM_032446.2(MEGF10):c.2654G>A (p.Gly885Glu) http://identifiers.org/clinvar/350666 ^@ NM_032446.2(MEGF10):c.2762A>G (p.Asn921Ser) http://identifiers.org/clinvar/349153 ^@ NM_006947.3(SRP72):c.*635C>T http://identifiers.org/clinvar/349154 ^@ NM_006947.3(SRP72):c.*651_*652delTA http://identifiers.org/clinvar/349156 ^@ NM_006947.3(SRP72):c.*780C>T http://identifiers.org/clinvar/345494 ^@ NM_024513.3(FYCO1):c.4321C>A (p.Pro1441Thr) http://identifiers.org/clinvar/350669 ^@ NM_032446.2(MEGF10):c.3026-8C>T http://identifiers.org/clinvar/345499 ^@ NM_024513.3(FYCO1):c.3935C>T (p.Ala1312Val) http://identifiers.org/clinvar/350678 ^@ NM_032446.2(MEGF10):c.*447A>G http://identifiers.org/clinvar/350685 ^@ NM_032446.2(MEGF10):c.*1094A>T http://identifiers.org/clinvar/350689 ^@ NM_032446.2(MEGF10):c.*1387A>G http://identifiers.org/clinvar/345500 ^@ NM_024513.3(FYCO1):c.3825G>A (p.Pro1275=) http://identifiers.org/clinvar/345503 ^@ NM_024513.3(FYCO1):c.3322A>G (p.Lys1108Glu) http://identifiers.org/clinvar/345507 ^@ NM_024513.3(FYCO1):c.2806G>A (p.Ala936Thr) http://identifiers.org/clinvar/349162 ^@ NM_006947.3(SRP72):c.*1678C>T http://identifiers.org/clinvar/345513 ^@ NM_024513.3(FYCO1):c.2109G>A (p.Gln703=) http://identifiers.org/clinvar/349164 ^@ NM_006947.3(SRP72):c.*1769T>G http://identifiers.org/clinvar/350700 ^@ NM_032446.2(MEGF10):c.*2149G>A http://identifiers.org/clinvar/350705 ^@ NM_032446.2(MEGF10):c.*2555A>G http://identifiers.org/clinvar/349100 ^@ NM_147127.4(EVC2):c.-19T>C http://identifiers.org/clinvar/349103 ^@ NM_153717.2(EVC):c.-36G>A http://identifiers.org/clinvar/349109 ^@ NM_153717.2(EVC):c.442T>C (p.Leu148=) http://identifiers.org/clinvar/345514 ^@ NM_024513.3(FYCO1):c.2037G>A (p.Ala679=) http://identifiers.org/clinvar/349166 ^@ NM_153717.2(EVC):c.899A>C (p.Glu300Ala) http://identifiers.org/clinvar/349169 ^@ NM_153717.2(EVC):c.939+11G>T http://identifiers.org/clinvar/350706 ^@ NM_032446.2(MEGF10):c.*2630A>G http://identifiers.org/clinvar/345532 ^@ NM_024513.3(FYCO1):c.869G>A (p.Arg290His) http://identifiers.org/clinvar/350710 ^@ NM_032446.2(MEGF10):c.*3267G>C http://identifiers.org/clinvar/345534 ^@ NM_024513.3(FYCO1):c.845G>A (p.Arg282His) http://identifiers.org/clinvar/345929 ^@ NM_002222.5(ITPR1):c.*1531G>T http://identifiers.org/clinvar/349192 ^@ NM_153717.2(EVC):c.1995G>A (p.Ser665=) http://identifiers.org/clinvar/349196 ^@ NM_153717.2(EVC):c.2276G>A (p.Ser759Asn) http://identifiers.org/clinvar/345787 ^@ NM_000094.3(COL7A1):c.*105C>T http://identifiers.org/clinvar/349201 ^@ NM_153717.2(EVC):c.2373G>A (p.Gln791=) http://identifiers.org/clinvar/345536 ^@ NM_024513.3(FYCO1):c.833G>A (p.Arg278Lys) http://identifiers.org/clinvar/345538 ^@ NM_024513.3(FYCO1):c.748C>T (p.Arg250Trp) http://identifiers.org/clinvar/349202 ^@ NM_153717.2(EVC):c.2391C>T (p.Ile797=) http://identifiers.org/clinvar/350711 ^@ NM_032446.2(MEGF10):c.*3313T>C http://identifiers.org/clinvar/350714 ^@ NM_032446.2(MEGF10):c.*3537T>C http://identifiers.org/clinvar/345544 ^@ NM_002222.5(ITPR1):c.195C>G (p.Arg65=) http://identifiers.org/clinvar/345561 ^@ NM_002222.5(ITPR1):c.366+15C>T http://identifiers.org/clinvar/350715 ^@ NM_032446.2(MEGF10):c.*3562C>T http://identifiers.org/clinvar/349205 ^@ NM_153717.2(EVC):c.2449+12C>G http://identifiers.org/clinvar/345792 ^@ NM_000094.3(COL7A1):c.8541T>C (p.Pro2847=) http://identifiers.org/clinvar/345796 ^@ NM_000094.3(COL7A1):c.8240C>T (p.Pro2747Leu) http://identifiers.org/clinvar/345797 ^@ NM_000094.3(COL7A1):c.8227-3C>T http://identifiers.org/clinvar/345562 ^@ NM_002222.5(ITPR1):c.438C>T (p.Ala146=) http://identifiers.org/clinvar/350719 ^@ NM_032446.2(MEGF10):c.*3615G>A http://identifiers.org/clinvar/345798 ^@ NM_000094.3(COL7A1):c.8108G>A (p.Arg2703Gln) http://identifiers.org/clinvar/350722 ^@ NM_032446.2(MEGF10):c.*3868G>A http://identifiers.org/clinvar/345800 ^@ NM_000094.3(COL7A1):c.8054G>C (p.Arg2685Pro) http://identifiers.org/clinvar/345801 ^@ NM_000094.3(COL7A1):c.7984-7delT http://identifiers.org/clinvar/345802 ^@ NM_000094.3(COL7A1):c.7929+3A>T http://identifiers.org/clinvar/349212 ^@ NM_153717.2(EVC):c.2894+13C>T http://identifiers.org/clinvar/349214 ^@ NM_153717.2(EVC):c.2930G>A (p.Gly977Glu) http://identifiers.org/clinvar/350726 ^@ NM_001999.3(FBN2):c.*1532G>A http://identifiers.org/clinvar/350731 ^@ NM_001999.3(FBN2):c.*1277G>A http://identifiers.org/clinvar/345564 ^@ NM_002222.5(ITPR1):c.508C>T (p.Arg170Ter) http://identifiers.org/clinvar/345583 ^@ NM_002222.5(ITPR1):c.882C>T (p.Gly294=) http://identifiers.org/clinvar/345646 ^@ NM_002222.5(ITPR1):c.1367+11C>T http://identifiers.org/clinvar/349226 ^@ NM_153717.2(EVC):c.*615C>T http://identifiers.org/clinvar/345647 ^@ NM_002222.5(ITPR1):c.1367+13G>A http://identifiers.org/clinvar/350732 ^@ NM_001999.3(FBN2):c.*1239A>G http://identifiers.org/clinvar/350734 ^@ NM_001999.3(FBN2):c.*1132A>G http://identifiers.org/clinvar/345688 ^@ NM_002222.5(ITPR1):c.1491A>G (p.Glu497=) http://identifiers.org/clinvar/345705 ^@ NM_002222.5(ITPR1):c.1578C>T (p.Leu526=) http://identifiers.org/clinvar/345707 ^@ NM_002222.5(ITPR1):c.1669-12C>T http://identifiers.org/clinvar/345805 ^@ NM_000094.3(COL7A1):c.7674C>T (p.Asp2558=) http://identifiers.org/clinvar/350737 ^@ NM_001999.3(FBN2):c.*1111C>A http://identifiers.org/clinvar/345812 ^@ NM_000094.3(COL7A1):c.7204G>A (p.Val2402Ile) http://identifiers.org/clinvar/345552 ^@ NM_147196.2(TMIE):c.*612C>T http://identifiers.org/clinvar/350738 ^@ NM_001999.3(FBN2):c.*1062_*1064dupGTT http://identifiers.org/clinvar/350741 ^@ NM_001999.3(FBN2):c.*733T>A http://identifiers.org/clinvar/345556 ^@ NM_147196.2(TMIE):c.*767G>A http://identifiers.org/clinvar/349227 ^@ NM_153717.2(EVC):c.*662G>A http://identifiers.org/clinvar/349249 ^@ NM_153717.2(EVC):c.*1428C>G http://identifiers.org/clinvar/349253 ^@ NM_153717.2(EVC):c.*1568C>T http://identifiers.org/clinvar/349255 ^@ NM_153717.2(EVC):c.*1648T>C http://identifiers.org/clinvar/349264 ^@ NM_153717.2(EVC):c.*2126T>G http://identifiers.org/clinvar/345818 ^@ NM_000094.3(COL7A1):c.6572C>T (p.Pro2191Leu) http://identifiers.org/clinvar/345824 ^@ NM_000094.3(COL7A1):c.6113A>G (p.Lys2038Arg) http://identifiers.org/clinvar/345825 ^@ NM_000094.3(COL7A1):c.6036C>G (p.Gly2012=) http://identifiers.org/clinvar/345828 ^@ NM_000094.3(COL7A1):c.5930G>T (p.Arg1977Leu) http://identifiers.org/clinvar/345829 ^@ NM_000094.3(COL7A1):c.5913G>T (p.Leu1971=) http://identifiers.org/clinvar/350743 ^@ NM_001999.3(FBN2):c.*635A>G http://identifiers.org/clinvar/349265 ^@ NM_153717.2(EVC):c.*2132A>G http://identifiers.org/clinvar/345830 ^@ NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) http://identifiers.org/clinvar/345558 ^@ NM_147196.2(TMIE):c.*905G>A http://identifiers.org/clinvar/350744 ^@ NM_001999.3(FBN2):c.*557C>T http://identifiers.org/clinvar/345712 ^@ NM_002222.5(ITPR1):c.2260A>G (p.Met754Val) http://identifiers.org/clinvar/350749 ^@ NM_001999.3(FBN2):c.*322_*323dupTT http://identifiers.org/clinvar/350754 ^@ NM_001999.3(FBN2):c.*99_*101delTAA http://identifiers.org/clinvar/345719 ^@ NM_002222.5(ITPR1):c.2868C>G (p.Thr956=) http://identifiers.org/clinvar/350770 ^@ NM_001999.3(FBN2):c.5281A>T (p.Met1761Leu) http://identifiers.org/clinvar/350773 ^@ NM_001999.3(FBN2):c.3980A>G (p.Asn1327Ser) http://identifiers.org/clinvar/345728 ^@ NM_002222.5(ITPR1):c.3483G>A (p.Val1161=) http://identifiers.org/clinvar/349268 ^@ NM_153717.2(EVC):c.*2285C>G http://identifiers.org/clinvar/345831 ^@ NM_000094.3(COL7A1):c.5726C>T (p.Thr1909Met) http://identifiers.org/clinvar/345568 ^@ NM_000258.2(MYL3):c.*89G>A http://identifiers.org/clinvar/350774 ^@ NM_001999.3(FBN2):c.3820C>T (p.Leu1274=) http://identifiers.org/clinvar/345569 ^@ NM_000258.2(MYL3):c.*13+5G>C http://identifiers.org/clinvar/349277 ^@ NM_153717.2(EVC):c.*2680G>A http://identifiers.org/clinvar/345572 ^@ NM_000258.2(MYL3):c.-90C>T http://identifiers.org/clinvar/345575 ^@ NM_000316.2(PTH1R):c.75+9C>T http://identifiers.org/clinvar/350778 ^@ NM_001999.3(FBN2):c.3655A>G (p.Met1219Val) http://identifiers.org/clinvar/345590 ^@ NM_000316.2(PTH1R):c.638+7G>A http://identifiers.org/clinvar/350782 ^@ NM_001999.3(FBN2):c.3273T>C (p.Asn1091=) http://identifiers.org/clinvar/350784 ^@ NM_001999.3(FBN2):c.2901A>G (p.Pro967=) http://identifiers.org/clinvar/349283 ^@ NM_153717.2(EVC):c.*3161A>C http://identifiers.org/clinvar/349288 ^@ NM_000283.3(PDE6B):c.133G>A (p.Asp45Asn) http://identifiers.org/clinvar/349290 ^@ NM_000283.3(PDE6B):c.204G>C (p.Glu68Asp) http://identifiers.org/clinvar/345836 ^@ NM_000094.3(COL7A1):c.5368G>A (p.Ala1790Thr) http://identifiers.org/clinvar/350792 ^@ NM_001999.3(FBN2):c.532C>T (p.Pro178Ser) http://identifiers.org/clinvar/345592 ^@ NM_000316.2(PTH1R):c.1050-3dupC http://identifiers.org/clinvar/350798 ^@ NM_001999.3(FBN2):c.-309A>G http://identifiers.org/clinvar/345593 ^@ NM_000316.2(PTH1R):c.1152G>T (p.Val384=) http://identifiers.org/clinvar/350805 ^@ NM_198253.2(TERT):c.219+7C>T http://identifiers.org/clinvar/350811 ^@ NM_003060.3(SLC22A5):c.-25C>T http://identifiers.org/clinvar/349291 ^@ NM_000283.3(PDE6B):c.258C>T (p.Leu86=) http://identifiers.org/clinvar/349292 ^@ NM_000283.3(PDE6B):c.270C>T (p.Asp90=) http://identifiers.org/clinvar/345596 ^@ NM_000316.2(PTH1R):c.1389T>C (p.Asn463=) http://identifiers.org/clinvar/345598 ^@ NM_000316.2(PTH1R):c.1427G>A (p.Arg476His) http://identifiers.org/clinvar/345599 ^@ NM_000316.2(PTH1R):c.1586A>G (p.Asn529Ser) http://identifiers.org/clinvar/345737 ^@ NM_002222.5(ITPR1):c.4216A>G (p.Ile1406Val) http://identifiers.org/clinvar/349293 ^@ NM_000283.3(PDE6B):c.387G>T (p.Glu129Asp) http://identifiers.org/clinvar/349311 ^@ NM_006005.3(WFS1):c.315+11C>T http://identifiers.org/clinvar/349316 ^@ NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn) http://identifiers.org/clinvar/350813 ^@ NM_003060.3(SLC22A5):c.763G>A (p.Asp255Asn) http://identifiers.org/clinvar/350815 ^@ NM_003060.3(SLC22A5):c.980A>C (p.Gln327Pro) http://identifiers.org/clinvar/345838 ^@ NM_000094.3(COL7A1):c.5217T>A (p.Pro1739=) http://identifiers.org/clinvar/345840 ^@ NM_000094.3(COL7A1):c.5098-5C>T http://identifiers.org/clinvar/345844 ^@ NM_000094.3(COL7A1):c.4782+9A>T http://identifiers.org/clinvar/345845 ^@ NM_000094.3(COL7A1):c.4722+11C>T http://identifiers.org/clinvar/345608 ^@ NM_015175.2(NBEAL2):c.-162C>T http://identifiers.org/clinvar/350819 ^@ NM_003060.3(SLC22A5):c.*5G>A http://identifiers.org/clinvar/345620 ^@ NM_015175.2(NBEAL2):c.907C>G (p.Leu303Val) http://identifiers.org/clinvar/345622 ^@ NM_015175.2(NBEAL2):c.1081A>G (p.Thr361Ala) http://identifiers.org/clinvar/350821 ^@ NM_003060.3(SLC22A5):c.*195G>T http://identifiers.org/clinvar/350822 ^@ NM_003060.3(SLC22A5):c.*417T>A http://identifiers.org/clinvar/345625 ^@ NM_015175.2(NBEAL2):c.1380G>A (p.Pro460=) http://identifiers.org/clinvar/345847 ^@ NM_000094.3(COL7A1):c.4437+5G>A http://identifiers.org/clinvar/349317 ^@ NM_006005.3(WFS1):c.1311C>T (p.Gly437=) http://identifiers.org/clinvar/349318 ^@ NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) http://identifiers.org/clinvar/350823 ^@ NM_003060.3(SLC22A5):c.*424T>C http://identifiers.org/clinvar/345848 ^@ NM_000094.3(COL7A1):c.4388C>T (p.Ser1463Phe) http://identifiers.org/clinvar/350826 ^@ NM_003060.3(SLC22A5):c.*678G>T http://identifiers.org/clinvar/345849 ^@ NM_000094.3(COL7A1):c.4329G>T (p.Lys1443Asn) http://identifiers.org/clinvar/345852 ^@ NM_000094.3(COL7A1):c.3999T>C (p.Pro1333=) http://identifiers.org/clinvar/345629 ^@ NM_015175.2(NBEAL2):c.1613G>A (p.Arg538His) http://identifiers.org/clinvar/350832 ^@ NM_003060.3(SLC22A5):c.*1020C>G http://identifiers.org/clinvar/345634 ^@ NM_015175.2(NBEAL2):c.2195C>T (p.Thr732Met) http://identifiers.org/clinvar/350836 ^@ NM_003060.3(SLC22A5):c.*1244C>T http://identifiers.org/clinvar/350839 ^@ NM_014402.4(UQCRQ):c.45C>T (p.Ile15=) http://identifiers.org/clinvar/349321 ^@ NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) http://identifiers.org/clinvar/345636 ^@ NM_015175.2(NBEAL2):c.2231C>T (p.Pro744Leu) http://identifiers.org/clinvar/345854 ^@ NM_000094.3(COL7A1):c.3889G>A (p.Glu1297Lys) http://identifiers.org/clinvar/345859 ^@ NM_000094.3(COL7A1):c.3343G>C (p.Gly1115Arg) http://identifiers.org/clinvar/345642 ^@ NM_015175.2(NBEAL2):c.2486C>T (p.Thr829Met) http://identifiers.org/clinvar/349324 ^@ NM_006005.3(WFS1):c.2298C>A (p.His766Gln) http://identifiers.org/clinvar/349325 ^@ NM_006005.3(WFS1):c.2340C>A (p.Gly780=) http://identifiers.org/clinvar/345868 ^@ NM_000094.3(COL7A1):c.1969C>T (p.Pro657Ser) http://identifiers.org/clinvar/345651 ^@ NM_015175.2(NBEAL2):c.3135G>A (p.Met1045Ile) http://identifiers.org/clinvar/350844 ^@ NM_014402.4(UQCRQ):c.*249A>G http://identifiers.org/clinvar/345652 ^@ NM_015175.2(NBEAL2):c.3308G>A (p.Arg1103Gln) http://identifiers.org/clinvar/350848 ^@ NM_014402.4(UQCRQ):c.*545A>C http://identifiers.org/clinvar/350849 ^@ NM_014402.4(UQCRQ):c.*644C>T http://identifiers.org/clinvar/349326 ^@ NM_006005.3(WFS1):c.2372G>A (p.Arg791His) http://identifiers.org/clinvar/345656 ^@ NM_015175.2(NBEAL2):c.3607C>T (p.Arg1203Trp) http://identifiers.org/clinvar/345869 ^@ NM_000094.3(COL7A1):c.1637-1G>A http://identifiers.org/clinvar/345671 ^@ NM_015175.2(NBEAL2):c.5277C>T (p.Arg1759=) http://identifiers.org/clinvar/349328 ^@ NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) http://identifiers.org/clinvar/349330 ^@ NM_006005.3(WFS1):c.2580C>T (p.His860=) http://identifiers.org/clinvar/349331 ^@ NM_006005.3(WFS1):c.2595C>A (p.His865Gln) http://identifiers.org/clinvar/349335 ^@ NM_006005.3(WFS1):c.*91C>T http://identifiers.org/clinvar/349338 ^@ NM_006005.3(WFS1):c.*241T>C http://identifiers.org/clinvar/345871 ^@ NM_000094.3(COL7A1):c.1624C>T (p.Arg542Cys) http://identifiers.org/clinvar/349344 ^@ NM_006005.3(WFS1):c.*333C>A http://identifiers.org/clinvar/345874 ^@ NM_000094.3(COL7A1):c.1495G>A (p.Val499Met) http://identifiers.org/clinvar/350851 ^@ NM_014402.4(UQCRQ):c.*678G>A http://identifiers.org/clinvar/345881 ^@ NM_000094.3(COL7A1):c.802C>T (p.Pro268Ser) http://identifiers.org/clinvar/345884 ^@ NM_000094.3(COL7A1):c.638G>A (p.Arg213Gln) http://identifiers.org/clinvar/345887 ^@ NM_000094.3(COL7A1):c.520+9C>T http://identifiers.org/clinvar/349347 ^@ NM_006005.3(WFS1):c.*365_*369delCTTTT http://identifiers.org/clinvar/349349 ^@ NM_006005.3(WFS1):c.*506C>T http://identifiers.org/clinvar/349361 ^@ NM_006005.3(WFS1):c.*724_*727delACTG http://identifiers.org/clinvar/345675 ^@ NM_015175.2(NBEAL2):c.5459+8G>A http://identifiers.org/clinvar/345678 ^@ NM_015175.2(NBEAL2):c.6145T>C (p.Tyr2049His) http://identifiers.org/clinvar/349307 ^@ NM_000283.3(PDE6B):c.469-5G>A http://identifiers.org/clinvar/350854 ^@ NM_014402.4(UQCRQ):c.*757G>A http://identifiers.org/clinvar/350856 ^@ NM_014402.4(UQCRQ):c.*971C>A http://identifiers.org/clinvar/345888 ^@ NM_000094.3(COL7A1):c.427-14T>C http://identifiers.org/clinvar/345935 ^@ NM_000387.5(SLC25A20):c.*359C>T http://identifiers.org/clinvar/345943 ^@ NM_000387.5(SLC25A20):c.326+1delG http://identifiers.org/clinvar/349310 ^@ NM_000283.3(PDE6B):c.496G>A (p.Glu166Lys) http://identifiers.org/clinvar/345950 ^@ NM_000387.5(SLC25A20):c.-116C>A http://identifiers.org/clinvar/350866 ^@ NM_000358.2(TGFBI):c.134+14C>A http://identifiers.org/clinvar/345953 ^@ NM_199069.1(NDUFAF3):c.-489T>C http://identifiers.org/clinvar/345954 ^@ NM_199069.1(NDUFAF3):c.-370A>G http://identifiers.org/clinvar/345680 ^@ NM_015175.2(NBEAL2):c.6404A>G (p.Gln2135Arg) http://identifiers.org/clinvar/350872 ^@ NM_000358.2(TGFBI):c.459+14C>T http://identifiers.org/clinvar/345693 ^@ NM_015175.2(NBEAL2):c.8096G>A (p.Arg2699His) http://identifiers.org/clinvar/345958 ^@ NM_199069.1(NDUFAF3):c.-241C>T http://identifiers.org/clinvar/345694 ^@ NM_015175.2(NBEAL2):c.8164-3C>G http://identifiers.org/clinvar/345696 ^@ NM_015175.2(NBEAL2):c.*65A>G http://identifiers.org/clinvar/345702 ^@ NM_015175.2(NBEAL2):c.*219A>C http://identifiers.org/clinvar/345740 ^@ NM_002222.5(ITPR1):c.4765T>C (p.Leu1589=) http://identifiers.org/clinvar/345963 ^@ NM_199069.1(NDUFAF3):c.312C>A (p.Leu104=) http://identifiers.org/clinvar/350874 ^@ NM_000358.2(TGFBI):c.675C>A (p.Thr225=) http://identifiers.org/clinvar/345964 ^@ NM_199069.1(NDUFAF3):c.338-12A>C http://identifiers.org/clinvar/345744 ^@ NM_002222.5(ITPR1):c.4983A>C (p.Leu1661=) http://identifiers.org/clinvar/345745 ^@ NM_002222.5(ITPR1):c.5093G>A (p.Arg1698Gln) http://identifiers.org/clinvar/350878 ^@ NM_000358.2(TGFBI):c.968C>T (p.Ala323Val) http://identifiers.org/clinvar/345748 ^@ NM_002222.5(ITPR1):c.5214C>T (p.Ala1738=) http://identifiers.org/clinvar/350879 ^@ NM_000358.2(TGFBI):c.969G>A (p.Ala323=) http://identifiers.org/clinvar/350895 ^@ NM_000358.2(TGFBI):c.2001T>C (p.Ser667=) http://identifiers.org/clinvar/350901 ^@ NM_000358.2(TGFBI):c.*551A>G http://identifiers.org/clinvar/345965 ^@ NM_199069.1(NDUFAF3):c.386A>G (p.Gln129Arg) http://identifiers.org/clinvar/345966 ^@ NM_199069.1(NDUFAF3):c.438+9C>T http://identifiers.org/clinvar/345968 ^@ NM_199069.1(NDUFAF3):c.*169G>C http://identifiers.org/clinvar/349315 ^@ NM_000283.3(PDE6B):c.711+12C>T http://identifiers.org/clinvar/349363 ^@ NM_000283.3(PDE6B):c.789G>A (p.Thr263=) http://identifiers.org/clinvar/350904 ^@ NM_001369.2(DNAH5):c.*1502C>T http://identifiers.org/clinvar/350910 ^@ NM_001369.2(DNAH5):c.*1048A>G http://identifiers.org/clinvar/349365 ^@ NM_000283.3(PDE6B):c.853-9T>C http://identifiers.org/clinvar/349367 ^@ NM_000283.3(PDE6B):c.932T>C (p.Ile311Thr) http://identifiers.org/clinvar/349368 ^@ NM_000283.3(PDE6B):c.966C>T (p.His322=) http://identifiers.org/clinvar/345969 ^@ NM_199069.1(NDUFAF3):c.*194G>C http://identifiers.org/clinvar/350918 ^@ NM_001369.2(DNAH5):c.13817C>A (p.Ala4606Asp) http://identifiers.org/clinvar/350995 ^@ NM_001369.2(DNAH5):c.13458dupT (p.Asn4487Terfs) http://identifiers.org/clinvar/345979 ^@ NM_002292.3(LAMB2):c.4222C>T (p.Leu1408=) http://identifiers.org/clinvar/345980 ^@ NM_002292.3(LAMB2):c.4134C>T (p.Asp1378=) http://identifiers.org/clinvar/349369 ^@ NM_000283.3(PDE6B):c.1026C>T (p.Ser342=) http://identifiers.org/clinvar/345750 ^@ NM_002222.5(ITPR1):c.5298C>T (p.Phe1766=) http://identifiers.org/clinvar/351011 ^@ NM_001369.2(DNAH5):c.12734T>C (p.Met4245Thr) http://identifiers.org/clinvar/351014 ^@ NM_001369.2(DNAH5):c.12566C>T (p.Ala4189Val) http://identifiers.org/clinvar/345759 ^@ NM_002222.5(ITPR1):c.6909C>T (p.Gly2303=) http://identifiers.org/clinvar/345785 ^@ NM_002222.5(ITPR1):c.7548C>T (p.Leu2516=) http://identifiers.org/clinvar/349373 ^@ NM_000283.3(PDE6B):c.1218C>T (p.Asp406=) http://identifiers.org/clinvar/345989 ^@ NM_002292.3(LAMB2):c.3232C>T (p.Arg1078Cys) http://identifiers.org/clinvar/351035 ^@ NM_001369.2(DNAH5):c.11986C>T (p.Arg3996Cys) http://identifiers.org/clinvar/349374 ^@ NM_000283.3(PDE6B):c.1296C>T (p.Thr432=) http://identifiers.org/clinvar/351041 ^@ NM_001369.2(DNAH5):c.10974A>G (p.Pro3658=) http://identifiers.org/clinvar/351044 ^@ NM_001369.2(DNAH5):c.10640G>A (p.Arg3547Gln) http://identifiers.org/clinvar/350921 ^@ NM_017415.2(KLHL3):c.*4356G>T http://identifiers.org/clinvar/349376 ^@ NM_000283.3(PDE6B):c.1401+5G>A http://identifiers.org/clinvar/349382 ^@ NM_000283.3(PDE6B):c.1635C>T (p.Phe545=) http://identifiers.org/clinvar/349386 ^@ NM_000283.3(PDE6B):c.2098T>A (p.Ser700Thr) http://identifiers.org/clinvar/345992 ^@ NM_002292.3(LAMB2):c.3071C>T (p.Pro1024Leu) http://identifiers.org/clinvar/345901 ^@ NM_002222.5(ITPR1):c.*312G>A http://identifiers.org/clinvar/349387 ^@ NM_000283.3(PDE6B):c.2129+9G>C http://identifiers.org/clinvar/349396 ^@ NM_000283.3(PDE6B):c.2411G>C (p.Arg804Thr) http://identifiers.org/clinvar/349399 ^@ NM_000283.3(PDE6B):c.2548A>G (p.Thr850Ala) http://identifiers.org/clinvar/349403 ^@ NM_000283.3(PDE6B):c.*79A>G http://identifiers.org/clinvar/349412 ^@ NM_000283.3(PDE6B):c.*545T>C http://identifiers.org/clinvar/350926 ^@ NM_017415.2(KLHL3):c.*4006C>T http://identifiers.org/clinvar/345763 ^@ NM_033629.4(TREX1):c.-287C>T http://identifiers.org/clinvar/345995 ^@ NM_002292.3(LAMB2):c.2884+15delG http://identifiers.org/clinvar/345996 ^@ NM_002292.3(LAMB2):c.2810G>A (p.Arg937Gln) http://identifiers.org/clinvar/345998 ^@ NM_002292.3(LAMB2):c.2459A>T (p.Tyr820Phe) http://identifiers.org/clinvar/346000 ^@ NM_002292.3(LAMB2):c.2322C>G (p.Thr774=) http://identifiers.org/clinvar/346001 ^@ NM_002292.3(LAMB2):c.2295C>T (p.Cys765=) http://identifiers.org/clinvar/349415 ^@ NM_000283.3(PDE6B):c.*626T>C http://identifiers.org/clinvar/349417 ^@ NM_000406.2(GNRHR):c.*3076T>C http://identifiers.org/clinvar/345764 ^@ NM_033629.4(TREX1):c.-206G>T http://identifiers.org/clinvar/349418 ^@ NM_000406.2(GNRHR):c.*2919A>G http://identifiers.org/clinvar/349422 ^@ NM_000406.2(GNRHR):c.*2328A>T http://identifiers.org/clinvar/345767 ^@ NM_033629.4(TREX1):c.-117C>T http://identifiers.org/clinvar/349432 ^@ NM_000406.2(GNRHR):c.*1654C>T http://identifiers.org/clinvar/350930 ^@ NM_017415.2(KLHL3):c.*3339_*3340insT http://identifiers.org/clinvar/349442 ^@ NM_000406.2(GNRHR):c.*829T>C http://identifiers.org/clinvar/350938 ^@ NM_017415.2(KLHL3):c.*3205A>T http://identifiers.org/clinvar/350951 ^@ NM_017415.2(KLHL3):c.*2360G>A http://identifiers.org/clinvar/346008 ^@ NM_002292.3(LAMB2):c.816T>C (p.Tyr272=) http://identifiers.org/clinvar/346012 ^@ NM_002292.3(LAMB2):c.253G>A (p.Glu85Lys) http://identifiers.org/clinvar/350952 ^@ NM_017415.2(KLHL3):c.*2267T>A http://identifiers.org/clinvar/350960 ^@ NM_017415.2(KLHL3):c.*1657G>A http://identifiers.org/clinvar/346026 ^@ NM_000481.3(AMT):c.*163G>C http://identifiers.org/clinvar/346027 ^@ NM_000481.3(AMT):c.*130G>T http://identifiers.org/clinvar/346030 ^@ NM_000481.3(AMT):c.858C>A (p.Gly286=) http://identifiers.org/clinvar/346032 ^@ NM_000481.3(AMT):c.513C>T (p.Gly171=) http://identifiers.org/clinvar/350962 ^@ NM_017415.2(KLHL3):c.*1583C>T http://identifiers.org/clinvar/346040 ^@ NM_000481.3(AMT):c.-117dupC http://identifiers.org/clinvar/346041 ^@ NM_000481.3(AMT):c.-136T>C http://identifiers.org/clinvar/350966 ^@ NM_017415.2(KLHL3):c.*1106G>T http://identifiers.org/clinvar/345771 ^@ NM_033629.4(TREX1):c.-34_-31delCTGC http://identifiers.org/clinvar/345904 ^@ NM_002222.5(ITPR1):c.*549G>T http://identifiers.org/clinvar/349446 ^@ NM_000406.2(GNRHR):c.*802G>C http://identifiers.org/clinvar/345907 ^@ NM_002222.5(ITPR1):c.*740T>C http://identifiers.org/clinvar/350971 ^@ NM_017415.2(KLHL3):c.*748T>C http://identifiers.org/clinvar/345910 ^@ NM_002222.5(ITPR1):c.*847G>A http://identifiers.org/clinvar/350973 ^@ NM_017415.2(KLHL3):c.*539G>A http://identifiers.org/clinvar/350974 ^@ NM_017415.2(KLHL3):c.*501T>C http://identifiers.org/clinvar/350976 ^@ NM_017415.2(KLHL3):c.*319_*320delGT http://identifiers.org/clinvar/345911 ^@ NM_002222.5(ITPR1):c.*1008A>G http://identifiers.org/clinvar/345919 ^@ NM_002222.5(ITPR1):c.*1184_*1185insAACAAA http://identifiers.org/clinvar/345918 ^@ NM_002222.5(ITPR1):c.*1184delA http://identifiers.org/clinvar/346043 ^@ NM_144499.2(GNAT1):c.-2C>G http://identifiers.org/clinvar/345924 ^@ NM_002222.5(ITPR1):c.*1347G>T http://identifiers.org/clinvar/350978 ^@ NM_017415.2(KLHL3):c.*299G>A http://identifiers.org/clinvar/345925 ^@ NM_002222.5(ITPR1):c.*1385A>G http://identifiers.org/clinvar/346045 ^@ NM_144499.2(GNAT1):c.39G>A (p.Arg13=) http://identifiers.org/clinvar/350989 ^@ NM_017415.2(KLHL3):c.1021+5G>A http://identifiers.org/clinvar/351047 ^@ NM_001369.2(DNAH5):c.10066T>C (p.Leu3356=) http://identifiers.org/clinvar/345928 ^@ NM_002222.5(ITPR1):c.*1531G>A http://identifiers.org/clinvar/351048 ^@ NM_001369.2(DNAH5):c.10036A>G (p.Thr3346Ala) http://identifiers.org/clinvar/345939 ^@ NM_002222.5(ITPR1):c.*1611G>A http://identifiers.org/clinvar/350996 ^@ NM_017415.2(KLHL3):c.14+11A>T http://identifiers.org/clinvar/349448 ^@ NM_000406.2(GNRHR):c.*583A>G http://identifiers.org/clinvar/349449 ^@ NM_000406.2(GNRHR):c.*513dupA http://identifiers.org/clinvar/345795 ^@ NM_000094.3(COL7A1):c.8244C>T (p.Pro2748=) http://identifiers.org/clinvar/345803 ^@ NM_000094.3(COL7A1):c.7689C>T (p.Gly2563=) http://identifiers.org/clinvar/345807 ^@ NM_000094.3(COL7A1):c.7510C>T (p.Arg2504Cys) http://identifiers.org/clinvar/345809 ^@ NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) http://identifiers.org/clinvar/349456 ^@ NM_000406.2(GNRHR):c.453C>T (p.Ser151=) http://identifiers.org/clinvar/351001 ^@ NM_017415.2(KLHL3):c.-337A>G http://identifiers.org/clinvar/351004 ^@ NM_017415.2(KLHL3):c.-402C>T http://identifiers.org/clinvar/346048 ^@ NM_144499.2(GNAT1):c.241G>A (p.Val81Ile) http://identifiers.org/clinvar/346053 ^@ NM_144499.2(GNAT1):c.882C>T (p.Asp294=) http://identifiers.org/clinvar/351050 ^@ NM_001369.2(DNAH5):c.8726G>A (p.Arg2909His) http://identifiers.org/clinvar/351051 ^@ NM_001369.2(DNAH5):c.8725C>T (p.Arg2909Cys) http://identifiers.org/clinvar/346062 ^@ NM_144499.2(GNAT1):c.*618C>T http://identifiers.org/clinvar/346064 ^@ NM_144499.2(GNAT1):c.*1174G>A http://identifiers.org/clinvar/346066 ^@ NM_144499.2(GNAT1):c.*1205C>T http://identifiers.org/clinvar/345813 ^@ NM_000094.3(COL7A1):c.7164+10T>C http://identifiers.org/clinvar/345820 ^@ NM_000094.3(COL7A1):c.6394-9T>C http://identifiers.org/clinvar/351018 ^@ NM_006790.2(MYOT):c.-251A>G http://identifiers.org/clinvar/351019 ^@ NM_006790.2(MYOT):c.-233C>A http://identifiers.org/clinvar/345822 ^@ NM_000094.3(COL7A1):c.6293A>C (p.Glu2098Ala) http://identifiers.org/clinvar/345823 ^@ NM_000094.3(COL7A1):c.6217-6C>T http://identifiers.org/clinvar/349467 ^@ NM_000406.2(GNRHR):c.-877C>A http://identifiers.org/clinvar/351020 ^@ NM_006790.2(MYOT):c.-165C>T http://identifiers.org/clinvar/351028 ^@ NM_006790.2(MYOT):c.1222T>C (p.Leu408=) http://identifiers.org/clinvar/349471 ^@ NM_000406.2(GNRHR):c.-962G>A http://identifiers.org/clinvar/351029 ^@ NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) http://identifiers.org/clinvar/351052 ^@ NM_001369.2(DNAH5):c.8449-3C>T http://identifiers.org/clinvar/351057 ^@ NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) http://identifiers.org/clinvar/351058 ^@ NM_001369.2(DNAH5):c.7923T>G (p.Gly2641=) http://identifiers.org/clinvar/346067 ^@ NM_144499.2(GNAT1):c.*1369G>T http://identifiers.org/clinvar/346068 ^@ NM_144499.2(GNAT1):c.*1379G>A http://identifiers.org/clinvar/351061 ^@ NM_001369.2(DNAH5):c.7452C>A (p.Phe2484Leu) http://identifiers.org/clinvar/351063 ^@ NM_001369.2(DNAH5):c.7206C>A (p.Ile2402=) http://identifiers.org/clinvar/345827 ^@ NM_000094.3(COL7A1):c.5933G>C (p.Arg1978Pro) http://identifiers.org/clinvar/345833 ^@ NM_000094.3(COL7A1):c.5605-15C>T http://identifiers.org/clinvar/345835 ^@ NM_000094.3(COL7A1):c.5572G>A (p.Glu1858Lys) http://identifiers.org/clinvar/351067 ^@ NM_001369.2(DNAH5):c.6856C>T (p.His2286Tyr) http://identifiers.org/clinvar/346075 ^@ NM_144499.2(GNAT1):c.*2129G>A http://identifiers.org/clinvar/351069 ^@ NM_001369.2(DNAH5):c.6705A>T (p.Leu2235Phe) http://identifiers.org/clinvar/351070 ^@ NM_001369.2(DNAH5):c.6454G>A (p.Asp2152Asn) http://identifiers.org/clinvar/346076 ^@ NM_144499.2(GNAT1):c.*2267C>T http://identifiers.org/clinvar/349475 ^@ NM_000406.2(GNRHR):c.-1144T>C http://identifiers.org/clinvar/345841 ^@ NM_000094.3(COL7A1):c.5052+15A>G http://identifiers.org/clinvar/351081 ^@ NM_001369.2(DNAH5):c.5911G>A (p.Gly1971Arg) http://identifiers.org/clinvar/349478 ^@ NM_000406.2(GNRHR):c.-1279G>A http://identifiers.org/clinvar/349485 ^@ NM_000406.2(GNRHR):c.-1570C>G http://identifiers.org/clinvar/349487 ^@ NM_000406.2(GNRHR):c.-1741G>T http://identifiers.org/clinvar/345846 ^@ NM_000094.3(COL7A1):c.4509G>A (p.Ala1503=) http://identifiers.org/clinvar/351088 ^@ NM_001369.2(DNAH5):c.5643G>A (p.Thr1881=) http://identifiers.org/clinvar/346078 ^@ NM_153281.1(HYAL1):c.*459G>A http://identifiers.org/clinvar/351091 ^@ NM_001369.2(DNAH5):c.5425G>A (p.Ala1809Thr) http://identifiers.org/clinvar/346081 ^@ NM_153281.1(HYAL1):c.*173T>C http://identifiers.org/clinvar/346083 ^@ NM_153281.1(HYAL1):c.1277C>G (p.Ala426Gly) http://identifiers.org/clinvar/346087 ^@ NM_153281.1(HYAL1):c.630T>C (p.Tyr210=) http://identifiers.org/clinvar/351092 ^@ NM_001369.2(DNAH5):c.5272-8dupT http://identifiers.org/clinvar/346091 ^@ NM_153281.1(HYAL1):c.-89G>A http://identifiers.org/clinvar/351095 ^@ NM_001369.2(DNAH5):c.5272-17_5272-15dupTTT http://identifiers.org/clinvar/351114 ^@ NM_001369.2(DNAH5):c.4703G>A (p.Arg1568His) http://identifiers.org/clinvar/345850 ^@ NM_000094.3(COL7A1):c.4119+11G>A http://identifiers.org/clinvar/349488 ^@ NM_031889.2(ENAM):c.-218A>G http://identifiers.org/clinvar/349495 ^@ NM_031889.2(ENAM):c.888C>T (p.Asn296=) http://identifiers.org/clinvar/349496 ^@ NM_031889.2(ENAM):c.899A>G (p.Gln300Arg) http://identifiers.org/clinvar/345855 ^@ NM_000094.3(COL7A1):c.3875C>T (p.Ala1292Val) http://identifiers.org/clinvar/349497 ^@ NM_031889.2(ENAM):c.1080G>A (p.Arg360=) http://identifiers.org/clinvar/351124 ^@ NM_001369.2(DNAH5):c.4596+5A>C http://identifiers.org/clinvar/346095 ^@ NM_153281.1(HYAL1):c.-240A>G http://identifiers.org/clinvar/351125 ^@ NM_001369.2(DNAH5):c.4498A>G (p.Thr1500Ala) http://identifiers.org/clinvar/346098 ^@ NM_153281.1(HYAL1):c.-310+12dupC http://identifiers.org/clinvar/346106 ^@ NM_004656.3(BAP1):c.*830T>C http://identifiers.org/clinvar/346108 ^@ NM_004656.3(BAP1):c.*643G>A http://identifiers.org/clinvar/349499 ^@ NM_031889.2(ENAM):c.1726T>C (p.Phe576Leu) http://identifiers.org/clinvar/349512 ^@ NM_031889.2(ENAM):c.*156G>A http://identifiers.org/clinvar/349513 ^@ NM_031889.2(ENAM):c.*264C>G http://identifiers.org/clinvar/346110 ^@ NM_004656.3(BAP1):c.*485G>T http://identifiers.org/clinvar/346117 ^@ NM_004656.3(BAP1):c.1497C>T (p.Ile499=) http://identifiers.org/clinvar/351188 ^@ NM_001369.2(DNAH5):c.3769A>G (p.Met1257Val) http://identifiers.org/clinvar/349514 ^@ NM_031889.2(ENAM):c.*342T>C http://identifiers.org/clinvar/351195 ^@ NM_001369.2(DNAH5):c.2984A>G (p.Asp995Gly) http://identifiers.org/clinvar/349515 ^@ NM_031889.2(ENAM):c.*421_*422insT http://identifiers.org/clinvar/349516 ^@ NM_031889.2(ENAM):c.*422G>T http://identifiers.org/clinvar/349523 ^@ NM_031889.2(ENAM):c.*1211T>G http://identifiers.org/clinvar/345862 ^@ NM_000094.3(COL7A1):c.3182C>T (p.Ala1061Val) http://identifiers.org/clinvar/349524 ^@ NM_031889.2(ENAM):c.*1241C>A http://identifiers.org/clinvar/349525 ^@ NM_031889.2(ENAM):c.*1512G>A http://identifiers.org/clinvar/345863 ^@ NM_000094.3(COL7A1):c.2993-13C>G http://identifiers.org/clinvar/345864 ^@ NM_000094.3(COL7A1):c.2888G>A (p.Arg963His) http://identifiers.org/clinvar/349529 ^@ NM_031889.2(ENAM):c.*1861delT http://identifiers.org/clinvar/351196 ^@ NM_001369.2(DNAH5):c.2594G>T (p.Gly865Val) http://identifiers.org/clinvar/349532 ^@ NM_003759.3(SLC4A4):c.158G>A (p.Gly53Glu) http://identifiers.org/clinvar/349538 ^@ NM_003759.3(SLC4A4):c.783A>G (p.Leu261=) http://identifiers.org/clinvar/351200 ^@ NM_001369.2(DNAH5):c.2578-9_2578-7delTTT http://identifiers.org/clinvar/351202 ^@ NM_001369.2(DNAH5):c.2400G>A (p.Glu800=) http://identifiers.org/clinvar/349539 ^@ NM_003759.3(SLC4A4):c.810G>C (p.Leu270=) http://identifiers.org/clinvar/351075 ^@ NM_022464.4(SIL1):c.1160C>T (p.Ala387Val) http://identifiers.org/clinvar/351077 ^@ NM_022464.4(SIL1):c.933G>A (p.Gly311=) http://identifiers.org/clinvar/351207 ^@ NM_001369.2(DNAH5):c.1728A>C (p.Glu576Asp) http://identifiers.org/clinvar/345865 ^@ NM_000094.3(COL7A1):c.2662G>C (p.Glu888Gln) http://identifiers.org/clinvar/351208 ^@ NM_001369.2(DNAH5):c.1715T>G (p.Leu572Trp) http://identifiers.org/clinvar/346118 ^@ NM_004656.3(BAP1):c.1413T>G (p.Ala471=) http://identifiers.org/clinvar/351100 ^@ NM_022464.4(SIL1):c.191C>T (p.Ala64Val) http://identifiers.org/clinvar/349545 ^@ NM_003759.3(SLC4A4):c.1139G>A (p.Gly380Asp) http://identifiers.org/clinvar/345873 ^@ NM_000094.3(COL7A1):c.1527C>T (p.Ser509=) http://identifiers.org/clinvar/345882 ^@ NM_000094.3(COL7A1):c.761C>T (p.Ala254Val) http://identifiers.org/clinvar/345890 ^@ NM_000094.3(COL7A1):c.158A>G (p.Asn53Ser) http://identifiers.org/clinvar/349546 ^@ NM_003759.3(SLC4A4):c.1551C>T (p.Ser517=) http://identifiers.org/clinvar/351217 ^@ NM_001369.2(DNAH5):c.946C>T (p.Leu316Phe) http://identifiers.org/clinvar/351104 ^@ NM_022464.4(SIL1):c.-29C>G http://identifiers.org/clinvar/349551 ^@ NM_003759.3(SLC4A4):c.2353C>A (p.Leu785Ile) http://identifiers.org/clinvar/346127 ^@ NM_004656.3(BAP1):c.-10C>T http://identifiers.org/clinvar/345931 ^@ NM_000387.5(SLC25A20):c.*698G>A http://identifiers.org/clinvar/345932 ^@ NM_000387.5(SLC25A20):c.*577dupT http://identifiers.org/clinvar/351112 ^@ NM_199189.2(MATR3):c.-247C>T http://identifiers.org/clinvar/351116 ^@ NM_199189.2(MATR3):c.-124T>C http://identifiers.org/clinvar/351123 ^@ NM_199189.2(MATR3):c.393C>A (p.Asp131Glu) http://identifiers.org/clinvar/345938 ^@ NM_000387.5(SLC25A20):c.*115G>A http://identifiers.org/clinvar/345942 ^@ NM_000387.5(SLC25A20):c.105+7_105+10dupGAGG http://identifiers.org/clinvar/349556 ^@ NM_003759.3(SLC4A4):c.2809T>C (p.Leu937=) http://identifiers.org/clinvar/351132 ^@ NM_199189.2(MATR3):c.1954C>T (p.Leu652Phe) http://identifiers.org/clinvar/349560 ^@ NM_003759.3(SLC4A4):c.*58delA http://identifiers.org/clinvar/345947 ^@ NM_000387.5(SLC25A20):c.-66T>C http://identifiers.org/clinvar/349561 ^@ NM_003759.3(SLC4A4):c.*77A>C http://identifiers.org/clinvar/345948 ^@ NM_000387.5(SLC25A20):c.-71G>C http://identifiers.org/clinvar/345955 ^@ NM_199069.1(NDUFAF3):c.-369C>T http://identifiers.org/clinvar/345956 ^@ NM_199069.1(NDUFAF3):c.-363C>G http://identifiers.org/clinvar/351137 ^@ NM_199189.2(MATR3):c.2283C>T (p.Asn761=) http://identifiers.org/clinvar/349562 ^@ NM_003759.3(SLC4A4):c.*175delG http://identifiers.org/clinvar/345959 ^@ NM_199069.1(NDUFAF3):c.-127G>C http://identifiers.org/clinvar/345974 ^@ NM_002292.3(LAMB2):c.5027G>T (p.Gly1676Val) http://identifiers.org/clinvar/349565 ^@ NM_003759.3(SLC4A4):c.*411G>C http://identifiers.org/clinvar/346130 ^@ NM_003280.2(TNNC1):c.*75G>A http://identifiers.org/clinvar/346137 ^@ NM_052859.3(RFT1):c.*3068A>C http://identifiers.org/clinvar/345977 ^@ NM_002292.3(LAMB2):c.4489A>G (p.Lys1497Glu) http://identifiers.org/clinvar/346139 ^@ NM_052859.3(RFT1):c.*2997C>G http://identifiers.org/clinvar/345978 ^@ NM_002292.3(LAMB2):c.4369C>T (p.Arg1457Trp) http://identifiers.org/clinvar/345984 ^@ NM_002292.3(LAMB2):c.3664G>C (p.Gly1222Arg) http://identifiers.org/clinvar/345988 ^@ NM_002292.3(LAMB2):c.3325G>A (p.Glu1109Lys) http://identifiers.org/clinvar/349568 ^@ NM_003759.3(SLC4A4):c.*708C>A http://identifiers.org/clinvar/349570 ^@ NM_003759.3(SLC4A4):c.*815C>T http://identifiers.org/clinvar/345991 ^@ NM_002292.3(LAMB2):c.3115A>C (p.Thr1039Pro) http://identifiers.org/clinvar/349572 ^@ NM_003759.3(SLC4A4):c.*989T>A http://identifiers.org/clinvar/349578 ^@ NM_003759.3(SLC4A4):c.*1220G>A http://identifiers.org/clinvar/346147 ^@ NM_052859.3(RFT1):c.*2706C>T http://identifiers.org/clinvar/349584 ^@ NM_003759.3(SLC4A4):c.*1467T>G http://identifiers.org/clinvar/345994 ^@ NM_002292.3(LAMB2):c.2922G>C (p.Gly974=) http://identifiers.org/clinvar/349587 ^@ NM_003759.3(SLC4A4):c.*1761G>A http://identifiers.org/clinvar/351138 ^@ NM_199189.2(MATR3):c.2360A>G (p.Asn787Ser) http://identifiers.org/clinvar/351142 ^@ NM_199189.2(MATR3):c.2504A>G (p.Asn835Ser) http://identifiers.org/clinvar/349595 ^@ NM_003759.3(SLC4A4):c.*2346T>C http://identifiers.org/clinvar/351144 ^@ NM_199189.2(MATR3):c.2543A>G (p.Ter848=) http://identifiers.org/clinvar/351146 ^@ NM_199189.2(MATR3):c.*86_*89delTTAG http://identifiers.org/clinvar/346009 ^@ NM_002292.3(LAMB2):c.740T>C (p.Val247Ala) http://identifiers.org/clinvar/346015 ^@ NM_002292.3(LAMB2):c.-112A>T http://identifiers.org/clinvar/349596 ^@ NM_003759.3(SLC4A4):c.*2353C>G http://identifiers.org/clinvar/351148 ^@ NM_199189.2(MATR3):c.*177_*178delAT http://identifiers.org/clinvar/349600 ^@ NM_003759.3(SLC4A4):c.*2864G>A http://identifiers.org/clinvar/346020 ^@ NM_002292.3(LAMB2):c.-279A>T http://identifiers.org/clinvar/346155 ^@ NM_052859.3(RFT1):c.*2255A>C http://identifiers.org/clinvar/346166 ^@ NM_052859.3(RFT1):c.*1271A>C http://identifiers.org/clinvar/351153 ^@ NM_199189.2(MATR3):c.*406A>G http://identifiers.org/clinvar/346168 ^@ NM_052859.3(RFT1):c.*1009G>A http://identifiers.org/clinvar/346022 ^@ NM_000481.3(AMT):c.*678C>G http://identifiers.org/clinvar/351155 ^@ NM_199189.2(MATR3):c.*496C>T http://identifiers.org/clinvar/346025 ^@ NM_000481.3(AMT):c.*407T>C http://identifiers.org/clinvar/346028 ^@ NM_000481.3(AMT):c.1190C>A (p.Thr397Lys) http://identifiers.org/clinvar/346031 ^@ NM_000481.3(AMT):c.825T>A (p.Asn275Lys) http://identifiers.org/clinvar/346172 ^@ NM_052859.3(RFT1):c.*622C>G http://identifiers.org/clinvar/351156 ^@ NM_199189.2(MATR3):c.*587A>G http://identifiers.org/clinvar/346173 ^@ NM_052859.3(RFT1):c.*609C>T http://identifiers.org/clinvar/351161 ^@ NM_199189.2(MATR3):c.*769G>A http://identifiers.org/clinvar/349601 ^@ NM_003759.3(SLC4A4):c.*2916A>G http://identifiers.org/clinvar/346179 ^@ NM_052859.3(RFT1):c.*184G>C http://identifiers.org/clinvar/351166 ^@ NM_199189.2(MATR3):c.*1111T>C http://identifiers.org/clinvar/346180 ^@ NM_052859.3(RFT1):c.*153C>T http://identifiers.org/clinvar/351178 ^@ NM_199189.2(MATR3):c.*1821T>G http://identifiers.org/clinvar/346042 ^@ NM_000481.3(AMT):c.-206G>A http://identifiers.org/clinvar/346044 ^@ NM_144499.2(GNAT1):c.38G>A (p.Arg13Lys) http://identifiers.org/clinvar/349602 ^@ NM_003759.3(SLC4A4):c.*2975G>A http://identifiers.org/clinvar/351179 ^@ NM_199189.2(MATR3):c.*1891T>G http://identifiers.org/clinvar/349603 ^@ NM_003759.3(SLC4A4):c.*3056A>G http://identifiers.org/clinvar/346046 ^@ NM_144499.2(GNAT1):c.83G>A (p.Arg28Gln) http://identifiers.org/clinvar/346183 ^@ NM_052859.3(RFT1):c.1358A>G (p.Tyr453Cys) http://identifiers.org/clinvar/346184 ^@ NM_052859.3(RFT1):c.1204G>A (p.Asp402Asn) http://identifiers.org/clinvar/351186 ^@ NM_199189.2(MATR3):c.*2222G>T http://identifiers.org/clinvar/346047 ^@ NM_144499.2(GNAT1):c.117G>A (p.Glu39=) http://identifiers.org/clinvar/351225 ^@ NM_002488.4(NDUFA2):c.135G>A (p.Lys45=) http://identifiers.org/clinvar/346049 ^@ NM_144499.2(GNAT1):c.294C>T (p.Asp98=) http://identifiers.org/clinvar/346055 ^@ NM_144499.2(GNAT1):c.939G>A (p.Lys313=) http://identifiers.org/clinvar/346061 ^@ NM_144499.2(GNAT1):c.*551C>T http://identifiers.org/clinvar/349607 ^@ NM_003759.3(SLC4A4):c.*3577A>G http://identifiers.org/clinvar/349609 ^@ NM_003759.3(SLC4A4):c.*3712T>C http://identifiers.org/clinvar/351226 ^@ NM_002488.4(NDUFA2):c.-48A>G http://identifiers.org/clinvar/346188 ^@ NM_052859.3(RFT1):c.924G>A (p.Leu308=) http://identifiers.org/clinvar/351238 ^@ NM_002109.5(HARS):c.397-10_397-9delTT http://identifiers.org/clinvar/346063 ^@ NM_144499.2(GNAT1):c.*1101C>T http://identifiers.org/clinvar/351250 ^@ NM_002109.5(HARS):c.-179C>G http://identifiers.org/clinvar/351265 ^@ NM_005219.4(DIAPH1):c.*1347C>G http://identifiers.org/clinvar/351267 ^@ NM_005219.4(DIAPH1):c.*1322C>G http://identifiers.org/clinvar/349614 ^@ NM_003759.3(SLC4A4):c.*4028A>G http://identifiers.org/clinvar/349615 ^@ NM_000477.6(ALB):c.-45T>C http://identifiers.org/clinvar/349616 ^@ NM_000477.6(ALB):c.137+4A>C http://identifiers.org/clinvar/346199 ^@ NM_052859.3(RFT1):c.121A>G (p.Lys41Glu) http://identifiers.org/clinvar/346201 ^@ NM_052859.3(RFT1):c.47C>G (p.Ser16Cys) http://identifiers.org/clinvar/346207 ^@ NM_003392.4(WNT5A):c.*4142G>T http://identifiers.org/clinvar/349624 ^@ NM_000477.6(ALB):c.913A>G (p.Lys305Glu) http://identifiers.org/clinvar/346073 ^@ NM_144499.2(GNAT1):c.*1991G>A http://identifiers.org/clinvar/351269 ^@ NM_005219.4(DIAPH1):c.*1041G>A http://identifiers.org/clinvar/351272 ^@ NM_005219.4(DIAPH1):c.*933T>A http://identifiers.org/clinvar/346080 ^@ NM_153281.1(HYAL1):c.*221T>C http://identifiers.org/clinvar/346089 ^@ NM_153281.1(HYAL1):c.270G>C (p.Glu90Asp) http://identifiers.org/clinvar/346092 ^@ NM_153281.1(HYAL1):c.-90C>T http://identifiers.org/clinvar/346208 ^@ NM_003392.4(WNT5A):c.*4127C>T http://identifiers.org/clinvar/346093 ^@ NM_153281.1(HYAL1):c.-132G>A http://identifiers.org/clinvar/346101 ^@ NM_153281.1(HYAL1):c.-395G>A http://identifiers.org/clinvar/351276 ^@ NM_005219.4(DIAPH1):c.*701T>C http://identifiers.org/clinvar/351281 ^@ NM_005219.4(DIAPH1):c.*236T>C http://identifiers.org/clinvar/346219 ^@ NM_003392.4(WNT5A):c.*3420T>C http://identifiers.org/clinvar/346222 ^@ NM_003392.4(WNT5A):c.*3125T>G http://identifiers.org/clinvar/346226 ^@ NM_003392.4(WNT5A):c.*2878T>C http://identifiers.org/clinvar/346228 ^@ NM_003392.4(WNT5A):c.*2731dupA http://identifiers.org/clinvar/351284 ^@ NM_005219.4(DIAPH1):c.*39G>A http://identifiers.org/clinvar/346230 ^@ NM_003392.4(WNT5A):c.*2728delG http://identifiers.org/clinvar/349625 ^@ NM_000477.6(ALB):c.1059-11A>G http://identifiers.org/clinvar/346105 ^@ NM_004656.3(BAP1):c.*974C>T http://identifiers.org/clinvar/351286 ^@ NM_005219.4(DIAPH1):c.2333A>G (p.Gln778Arg) http://identifiers.org/clinvar/346112 ^@ NM_004656.3(BAP1):c.*222G>C http://identifiers.org/clinvar/346115 ^@ NM_004656.3(BAP1):c.*37G>A http://identifiers.org/clinvar/346233 ^@ NM_003392.4(WNT5A):c.*2655G>C http://identifiers.org/clinvar/351287 ^@ NM_005219.4(DIAPH1):c.2273C>T (p.Pro758Leu) http://identifiers.org/clinvar/346238 ^@ NM_003392.4(WNT5A):c.*2010C>A http://identifiers.org/clinvar/349630 ^@ NM_000477.6(ALB):c.1290-6T>C http://identifiers.org/clinvar/351291 ^@ NM_005219.4(DIAPH1):c.2011G>A (p.Gly671Arg) http://identifiers.org/clinvar/351295 ^@ NM_005219.4(DIAPH1):c.1744G>C (p.Val582Leu) http://identifiers.org/clinvar/351297 ^@ NM_005219.4(DIAPH1):c.1287G>C (p.Gln429His) http://identifiers.org/clinvar/349632 ^@ NM_000477.6(ALB):c.1434C>T (p.Ser478=) http://identifiers.org/clinvar/349634 ^@ NM_000477.6(ALB):c.1472C>T (p.Thr491Met) http://identifiers.org/clinvar/349638 ^@ NM_000477.6(ALB):c.1647A>G (p.Lys549=) http://identifiers.org/clinvar/346116 ^@ NM_004656.3(BAP1):c.1791C>T (p.Ser597=) http://identifiers.org/clinvar/346122 ^@ NM_004656.3(BAP1):c.908C>T (p.Ala303Val) http://identifiers.org/clinvar/346241 ^@ NM_003392.4(WNT5A):c.*1952_*1953delTT http://identifiers.org/clinvar/351301 ^@ NM_005219.4(DIAPH1):c.789T>C (p.Leu263=) http://identifiers.org/clinvar/351302 ^@ NM_005219.4(DIAPH1):c.627C>T (p.Tyr209=) http://identifiers.org/clinvar/346244 ^@ NM_003392.4(WNT5A):c.*1684T>C http://identifiers.org/clinvar/346247 ^@ NM_003392.4(WNT5A):c.*1561G>C http://identifiers.org/clinvar/349644 ^@ NM_025074.6(FRAS1):c.-257G>T http://identifiers.org/clinvar/346123 ^@ NM_004656.3(BAP1):c.821A>C (p.His274Pro) http://identifiers.org/clinvar/351305 ^@ NM_005219.4(DIAPH1):c.300+12A>G http://identifiers.org/clinvar/351309 ^@ NM_005219.4(DIAPH1):c.-28G>C http://identifiers.org/clinvar/349648 ^@ NM_025074.6(FRAS1):c.-65T>C http://identifiers.org/clinvar/349650 ^@ NM_025074.6(FRAS1):c.-18G>T http://identifiers.org/clinvar/349656 ^@ NM_025074.6(FRAS1):c.308A>T (p.Glu103Val) http://identifiers.org/clinvar/346250 ^@ NM_003392.4(WNT5A):c.*1446T>A http://identifiers.org/clinvar/351315 ^@ NM_001018077.1(NR3C1):c.*3759dupA http://identifiers.org/clinvar/351318 ^@ NM_001018077.1(NR3C1):c.*3431G>C http://identifiers.org/clinvar/346251 ^@ NM_003392.4(WNT5A):c.*1440_*1441dupTA http://identifiers.org/clinvar/346257 ^@ NM_003392.4(WNT5A):c.*1177T>C http://identifiers.org/clinvar/349658 ^@ NM_025074.6(FRAS1):c.395C>T (p.Pro132Leu) http://identifiers.org/clinvar/351324 ^@ NM_001018077.1(NR3C1):c.*3076C>T http://identifiers.org/clinvar/349660 ^@ NM_025074.6(FRAS1):c.518G>A (p.Arg173Gln) http://identifiers.org/clinvar/346133 ^@ NM_003280.2(TNNC1):c.4G>A (p.Asp2Asn) http://identifiers.org/clinvar/351325 ^@ NM_001018077.1(NR3C1):c.*3046G>C http://identifiers.org/clinvar/351327 ^@ NM_001018077.1(NR3C1):c.*2873G>A http://identifiers.org/clinvar/351328 ^@ NM_001018077.1(NR3C1):c.*2601A>T http://identifiers.org/clinvar/346134 ^@ NM_052859.3(RFT1):c.*3342T>C http://identifiers.org/clinvar/346135 ^@ NM_052859.3(RFT1):c.*3191A>G http://identifiers.org/clinvar/346138 ^@ NM_052859.3(RFT1):c.*3053_*3055delCTT http://identifiers.org/clinvar/349663 ^@ NM_025074.6(FRAS1):c.625C>T (p.Pro209Ser) http://identifiers.org/clinvar/346143 ^@ NM_052859.3(RFT1):c.*2840T>A http://identifiers.org/clinvar/351331 ^@ NM_001018077.1(NR3C1):c.*2188A>G http://identifiers.org/clinvar/346264 ^@ NM_003392.4(WNT5A):c.*245A>G http://identifiers.org/clinvar/351333 ^@ NM_001018077.1(NR3C1):c.*2056dupA http://identifiers.org/clinvar/346271 ^@ NM_003392.4(WNT5A):c.41T>C (p.Leu14Ser) http://identifiers.org/clinvar/346272 ^@ NM_003392.4(WNT5A):c.-61G>A http://identifiers.org/clinvar/349665 ^@ NM_025074.6(FRAS1):c.667G>A (p.Ala223Thr) http://identifiers.org/clinvar/351340 ^@ NM_001018077.1(NR3C1):c.*1245_*1248dupATGT http://identifiers.org/clinvar/349667 ^@ NM_025074.6(FRAS1):c.688-13T>C http://identifiers.org/clinvar/349671 ^@ NM_025074.6(FRAS1):c.826G>A (p.Glu276Lys) http://identifiers.org/clinvar/351348 ^@ NM_001018077.1(NR3C1):c.*861_*868delACCTGCTG http://identifiers.org/clinvar/349675 ^@ NM_025074.6(FRAS1):c.1256-12C>T http://identifiers.org/clinvar/349681 ^@ NM_025074.6(FRAS1):c.1617A>G (p.Arg539=) http://identifiers.org/clinvar/349686 ^@ NM_025074.6(FRAS1):c.1820-11C>G http://identifiers.org/clinvar/346146 ^@ NM_052859.3(RFT1):c.*2787G>C http://identifiers.org/clinvar/346273 ^@ NM_003392.4(WNT5A):c.-150C>T http://identifiers.org/clinvar/349688 ^@ NM_025074.6(FRAS1):c.1848T>C (p.Ser616=) http://identifiers.org/clinvar/349691 ^@ NM_025074.6(FRAS1):c.2128A>C (p.Ile710Leu) http://identifiers.org/clinvar/349692 ^@ NM_025074.6(FRAS1):c.2132G>A (p.Cys711Tyr) http://identifiers.org/clinvar/351352 ^@ NM_001018077.1(NR3C1):c.*766_*769dupAAAA http://identifiers.org/clinvar/346274 ^@ NM_003392.4(WNT5A):c.-150C>G http://identifiers.org/clinvar/349697 ^@ NM_025074.6(FRAS1):c.2575+15G>A http://identifiers.org/clinvar/351350 ^@ NM_001018077.1(NR3C1):c.*769dupA http://identifiers.org/clinvar/351359 ^@ NM_001018077.1(NR3C1):c.*290A>C http://identifiers.org/clinvar/351360 ^@ NM_001018077.1(NR3C1):c.*149T>C http://identifiers.org/clinvar/346276 ^@ NM_003392.4(WNT5A):c.-329C>T http://identifiers.org/clinvar/346280 ^@ NM_003392.4(WNT5A):c.-503C>T http://identifiers.org/clinvar/349702 ^@ NM_025074.6(FRAS1):c.3068G>A (p.Gly1023Glu) http://identifiers.org/clinvar/351363 ^@ NM_001018077.1(NR3C1):c.2307C>G (p.Ile769Met) http://identifiers.org/clinvar/351364 ^@ NM_001018077.1(NR3C1):c.2298T>C (p.Asn766=) http://identifiers.org/clinvar/349714 ^@ NM_025074.6(FRAS1):c.4634C>T (p.Pro1545Leu) http://identifiers.org/clinvar/349715 ^@ NM_025074.6(FRAS1):c.4648C>T (p.Leu1550Phe) http://identifiers.org/clinvar/349718 ^@ NM_025074.6(FRAS1):c.4737G>A (p.Pro1579=) http://identifiers.org/clinvar/351369 ^@ NM_001018077.1(NR3C1):c.1242A>G (p.Thr414=) http://identifiers.org/clinvar/349719 ^@ NM_025074.6(FRAS1):c.4815G>A (p.Ala1605=) http://identifiers.org/clinvar/349722 ^@ NM_025074.6(FRAS1):c.5039G>A (p.Arg1680Gln) http://identifiers.org/clinvar/346286 ^@ NM_003865.2(HESX1):c.-201_-198delTTAA http://identifiers.org/clinvar/346287 ^@ NM_003865.2(HESX1):c.-230T>A http://identifiers.org/clinvar/346288 ^@ NM_003865.2(HESX1):c.-245delT http://identifiers.org/clinvar/351374 ^@ NM_001018077.1(NR3C1):c.631A>G (p.Ser211Gly) http://identifiers.org/clinvar/351375 ^@ NM_001018077.1(NR3C1):c.309A>T (p.Gly103=) http://identifiers.org/clinvar/346150 ^@ NM_052859.3(RFT1):c.*2457A>G http://identifiers.org/clinvar/349730 ^@ NM_025074.6(FRAS1):c.6010+10G>A http://identifiers.org/clinvar/349731 ^@ NM_025074.6(FRAS1):c.6010+13C>T http://identifiers.org/clinvar/346151 ^@ NM_052859.3(RFT1):c.*2433C>T http://identifiers.org/clinvar/351384 ^@ NM_002700.2(POU4F3):c.624G>A (p.Val208=) http://identifiers.org/clinvar/351389 ^@ NM_054027.4(ANKH):c.*6163A>G http://identifiers.org/clinvar/346152 ^@ NM_052859.3(RFT1):c.*2427G>A http://identifiers.org/clinvar/351391 ^@ NM_054027.4(ANKH):c.*6041T>C http://identifiers.org/clinvar/346156 ^@ NM_052859.3(RFT1):c.*2215G>A http://identifiers.org/clinvar/346289 ^@ NM_003865.2(HESX1):c.-276T>G http://identifiers.org/clinvar/351392 ^@ NM_054027.4(ANKH):c.*6034A>C http://identifiers.org/clinvar/349736 ^@ NM_025074.6(FRAS1):c.6569C>T (p.Ser2190Phe) http://identifiers.org/clinvar/349737 ^@ NM_025074.6(FRAS1):c.6608C>T (p.Thr2203Ile) http://identifiers.org/clinvar/349746 ^@ NM_025074.6(FRAS1):c.6939C>T (p.Pro2313=) http://identifiers.org/clinvar/346167 ^@ NM_052859.3(RFT1):c.*1124T>A http://identifiers.org/clinvar/349750 ^@ NM_025074.6(FRAS1):c.7219A>T (p.Thr2407Ser) http://identifiers.org/clinvar/346174 ^@ NM_052859.3(RFT1):c.*490T>A http://identifiers.org/clinvar/346290 ^@ NM_001457.3(FLNB):c.-131G>C http://identifiers.org/clinvar/346292 ^@ NM_001457.3(FLNB):c.-103A>G http://identifiers.org/clinvar/346176 ^@ NM_052859.3(RFT1):c.*405G>T http://identifiers.org/clinvar/346178 ^@ NM_052859.3(RFT1):c.*242T>C http://identifiers.org/clinvar/351407 ^@ NM_054027.4(ANKH):c.*5136delA http://identifiers.org/clinvar/351410 ^@ NM_054027.4(ANKH):c.*4704T>G http://identifiers.org/clinvar/346294 ^@ NM_001457.3(FLNB):c.-81G>C http://identifiers.org/clinvar/349754 ^@ NM_025074.6(FRAS1):c.7522+12C>G http://identifiers.org/clinvar/351411 ^@ NM_054027.4(ANKH):c.*4672G>A http://identifiers.org/clinvar/349758 ^@ NM_025074.6(FRAS1):c.7701G>A (p.Lys2567=) http://identifiers.org/clinvar/346186 ^@ NM_052859.3(RFT1):c.1101C>T (p.Ser367=) http://identifiers.org/clinvar/346191 ^@ NM_052859.3(RFT1):c.801G>T (p.Leu267Phe) http://identifiers.org/clinvar/346299 ^@ NM_001457.3(FLNB):c.249G>A (p.Ala83=) http://identifiers.org/clinvar/351421 ^@ NM_054027.4(ANKH):c.*4103G>A http://identifiers.org/clinvar/351423 ^@ NM_054027.4(ANKH):c.*3928_*3929delCG http://identifiers.org/clinvar/346306 ^@ NM_001457.3(FLNB):c.864C>T (p.Asp288=) http://identifiers.org/clinvar/346310 ^@ NM_001457.3(FLNB):c.1373G>A (p.Ser458Asn) http://identifiers.org/clinvar/351424 ^@ NM_054027.4(ANKH):c.*3928C>T http://identifiers.org/clinvar/351433 ^@ NM_054027.4(ANKH):c.*3616C>T http://identifiers.org/clinvar/349760 ^@ NM_025074.6(FRAS1):c.7758C>T (p.Ile2586=) http://identifiers.org/clinvar/349772 ^@ NM_025074.6(FRAS1):c.8605-7C>T http://identifiers.org/clinvar/349778 ^@ NM_025074.6(FRAS1):c.8959-11A>G http://identifiers.org/clinvar/346312 ^@ NM_001457.3(FLNB):c.1409G>A (p.Arg470Gln) http://identifiers.org/clinvar/346194 ^@ NM_052859.3(RFT1):c.632C>T (p.Thr211Ile) http://identifiers.org/clinvar/351435 ^@ NM_054027.4(ANKH):c.*3548G>A http://identifiers.org/clinvar/346316 ^@ NM_001457.3(FLNB):c.1919C>T (p.Thr640Met) http://identifiers.org/clinvar/346195 ^@ NM_052859.3(RFT1):c.558+6A>T http://identifiers.org/clinvar/346198 ^@ NM_052859.3(RFT1):c.303C>G (p.Gly101=) http://identifiers.org/clinvar/346318 ^@ NM_001457.3(FLNB):c.2055+4A>G http://identifiers.org/clinvar/346210 ^@ NM_003392.4(WNT5A):c.*3938_*3939delCT http://identifiers.org/clinvar/346214 ^@ NM_003392.4(WNT5A):c.*3712A>T http://identifiers.org/clinvar/346215 ^@ NM_003392.4(WNT5A):c.*3661C>T http://identifiers.org/clinvar/349781 ^@ NM_025074.6(FRAS1):c.9182C>T (p.Ala3061Val) http://identifiers.org/clinvar/346221 ^@ NM_003392.4(WNT5A):c.*3157G>A http://identifiers.org/clinvar/351437 ^@ NM_054027.4(ANKH):c.*3386G>A http://identifiers.org/clinvar/349785 ^@ NM_025074.6(FRAS1):c.9602C>T (p.Pro3201Leu) http://identifiers.org/clinvar/346236 ^@ NM_003392.4(WNT5A):c.*2053C>T http://identifiers.org/clinvar/346242 ^@ NM_003392.4(WNT5A):c.*1869C>T http://identifiers.org/clinvar/346246 ^@ NM_003392.4(WNT5A):c.*1655G>A http://identifiers.org/clinvar/349786 ^@ NM_025074.6(FRAS1):c.9607G>A (p.Asp3203Asn) http://identifiers.org/clinvar/346248 ^@ NM_003392.4(WNT5A):c.*1464_*1469dupAATATA http://identifiers.org/clinvar/351440 ^@ NM_054027.4(ANKH):c.*2770C>T http://identifiers.org/clinvar/346249 ^@ NM_003392.4(WNT5A):c.*1450_*1451dupTA http://identifiers.org/clinvar/351443 ^@ NM_054027.4(ANKH):c.*2694T>C http://identifiers.org/clinvar/349790 ^@ NM_025074.6(FRAS1):c.9808A>C (p.Arg3270=) http://identifiers.org/clinvar/346326 ^@ NM_001457.3(FLNB):c.2907G>A (p.Arg969=) http://identifiers.org/clinvar/346329 ^@ NM_001457.3(FLNB):c.2935G>A (p.Val979Met) http://identifiers.org/clinvar/346337 ^@ NM_001457.3(FLNB):c.3724+36delA http://identifiers.org/clinvar/351447 ^@ NM_054027.4(ANKH):c.*2428G>C http://identifiers.org/clinvar/346252 ^@ NM_003392.4(WNT5A):c.*1440_*1441delTA http://identifiers.org/clinvar/351452 ^@ NM_054027.4(ANKH):c.*2243C>G http://identifiers.org/clinvar/351455 ^@ NM_054027.4(ANKH):c.*2119C>T http://identifiers.org/clinvar/351465 ^@ NM_054027.4(ANKH):c.*1370C>G http://identifiers.org/clinvar/346345 ^@ NM_001457.3(FLNB):c.4766T>A (p.Met1589Lys) http://identifiers.org/clinvar/346347 ^@ NM_001457.3(FLNB):c.5091C>T (p.Asn1697=) http://identifiers.org/clinvar/346349 ^@ NM_001457.3(FLNB):c.5303C>T (p.Ser1768Phe) http://identifiers.org/clinvar/346355 ^@ NM_001457.3(FLNB):c.6244+4T>G http://identifiers.org/clinvar/346358 ^@ NM_001457.3(FLNB):c.6689T>C (p.Val2230Ala) http://identifiers.org/clinvar/351466 ^@ NM_054027.4(ANKH):c.*1354A>G http://identifiers.org/clinvar/351472 ^@ NM_054027.4(ANKH):c.*1058C>T http://identifiers.org/clinvar/346259 ^@ NM_003392.4(WNT5A):c.*978G>A http://identifiers.org/clinvar/346260 ^@ NM_003392.4(WNT5A):c.*810delA http://identifiers.org/clinvar/346261 ^@ NM_003392.4(WNT5A):c.*598A>T http://identifiers.org/clinvar/346360 ^@ NM_001457.3(FLNB):c.7003G>A (p.Val2335Met) http://identifiers.org/clinvar/346266 ^@ NM_003392.4(WNT5A):c.983C>T (p.Thr328Met) http://identifiers.org/clinvar/351475 ^@ NM_054027.4(ANKH):c.*925T>C http://identifiers.org/clinvar/351477 ^@ NM_054027.4(ANKH):c.*914A>C http://identifiers.org/clinvar/346269 ^@ NM_003392.4(WNT5A):c.141-14T>C http://identifiers.org/clinvar/346275 ^@ NM_003392.4(WNT5A):c.-292G>C http://identifiers.org/clinvar/351480 ^@ NM_054027.4(ANKH):c.*793A>G http://identifiers.org/clinvar/346277 ^@ NM_003392.4(WNT5A):c.-383G>A http://identifiers.org/clinvar/346279 ^@ NM_003392.4(WNT5A):c.-393C>T http://identifiers.org/clinvar/346281 ^@ NM_003392.4(WNT5A):c.-574C>A http://identifiers.org/clinvar/346363 ^@ NM_001457.3(FLNB):c.7099G>A (p.Val2367Ile) http://identifiers.org/clinvar/349795 ^@ NM_025074.6(FRAS1):c.10230C>T (p.Tyr3410=) http://identifiers.org/clinvar/346297 ^@ NM_001457.3(FLNB):c.-4C>T http://identifiers.org/clinvar/346304 ^@ NM_001457.3(FLNB):c.852C>T (p.Ala284=) http://identifiers.org/clinvar/346311 ^@ NM_001457.3(FLNB):c.1384C>T (p.Leu462=) http://identifiers.org/clinvar/346320 ^@ NM_001457.3(FLNB):c.2136G>A (p.Lys712=) http://identifiers.org/clinvar/346321 ^@ NM_001457.3(FLNB):c.2187C>T (p.His729=) http://identifiers.org/clinvar/346322 ^@ NM_001457.3(FLNB):c.2382C>T (p.Asp794=) http://identifiers.org/clinvar/346368 ^@ NM_001457.3(FLNB):c.7749G>A (p.Leu2583=) http://identifiers.org/clinvar/351482 ^@ NM_054027.4(ANKH):c.*724A>C http://identifiers.org/clinvar/346376 ^@ NM_001457.3(FLNB):c.*582G>C http://identifiers.org/clinvar/349800 ^@ NM_025074.6(FRAS1):c.10425C>T (p.His3475=) http://identifiers.org/clinvar/349803 ^@ NM_025074.6(FRAS1):c.10609C>T (p.Arg3537Cys) http://identifiers.org/clinvar/349808 ^@ NM_025074.6(FRAS1):c.10743A>G (p.Leu3581=) http://identifiers.org/clinvar/346330 ^@ NM_001457.3(FLNB):c.3138C>T (p.His1046=) http://identifiers.org/clinvar/349810 ^@ NM_025074.6(FRAS1):c.10852A>G (p.Thr3618Ala) http://identifiers.org/clinvar/351489 ^@ NM_054027.4(ANKH):c.*510C>T http://identifiers.org/clinvar/351490 ^@ NM_054027.4(ANKH):c.*433G>A http://identifiers.org/clinvar/346377 ^@ NM_001457.3(FLNB):c.*592C>G http://identifiers.org/clinvar/346384 ^@ NM_001457.3(FLNB):c.*1003A>C http://identifiers.org/clinvar/351494 ^@ NM_054027.4(ANKH):c.*283C>T http://identifiers.org/clinvar/346339 ^@ NM_001457.3(FLNB):c.3881A>G (p.Tyr1294Cys) http://identifiers.org/clinvar/346341 ^@ NM_001457.3(FLNB):c.4058C>G (p.Thr1353Ser) http://identifiers.org/clinvar/349814 ^@ NM_025074.6(FRAS1):c.11299-8A>C http://identifiers.org/clinvar/346342 ^@ NM_001457.3(FLNB):c.4185C>T (p.Tyr1395=) http://identifiers.org/clinvar/349820 ^@ NM_025074.6(FRAS1):c.11895C>T (p.Asn3965=) http://identifiers.org/clinvar/349824 ^@ NM_025074.6(FRAS1):c.*33T>A http://identifiers.org/clinvar/349825 ^@ NM_025074.6(FRAS1):c.*78G>T http://identifiers.org/clinvar/346343 ^@ NM_001457.3(FLNB):c.4319T>C (p.Leu1440Pro) http://identifiers.org/clinvar/349828 ^@ NM_025074.6(FRAS1):c.*122C>T http://identifiers.org/clinvar/351497 ^@ NM_054027.4(ANKH):c.*11G>A http://identifiers.org/clinvar/351499 ^@ NM_054027.4(ANKH):c.1338C>T (p.Ile446=) http://identifiers.org/clinvar/349832 ^@ NM_025074.6(FRAS1):c.*460A>G http://identifiers.org/clinvar/351502 ^@ NM_054027.4(ANKH):c.1272C>T (p.His424=) http://identifiers.org/clinvar/351503 ^@ NM_054027.4(ANKH):c.1265+6T>C http://identifiers.org/clinvar/346346 ^@ NM_001457.3(FLNB):c.5042C>G (p.Pro1681Arg) http://identifiers.org/clinvar/346350 ^@ NM_001457.3(FLNB):c.5426-10G>A http://identifiers.org/clinvar/346351 ^@ NM_001457.3(FLNB):c.5816C>T (p.Thr1939Met) http://identifiers.org/clinvar/349839 ^@ NM_025074.6(FRAS1):c.*751T>G http://identifiers.org/clinvar/351511 ^@ NM_054027.4(ANKH):c.1011+15T>G http://identifiers.org/clinvar/351559 ^@ NM_054027.4(ANKH):c.294C>T (p.Ala98=) http://identifiers.org/clinvar/351508 ^@ NM_003122.4(SPINK1):c.*51T>C http://identifiers.org/clinvar/346385 ^@ NM_001457.3(FLNB):c.*1030G>C http://identifiers.org/clinvar/346390 ^@ NM_001457.3(FLNB):c.*1361G>A http://identifiers.org/clinvar/346396 ^@ NM_000925.3(PDHB):c.*360A>G http://identifiers.org/clinvar/346352 ^@ NM_001457.3(FLNB):c.5916C>T (p.Gly1972=) http://identifiers.org/clinvar/346397 ^@ NM_000925.3(PDHB):c.*356A>G http://identifiers.org/clinvar/351514 ^@ NM_006846.3(SPINK5):c.-10C>T http://identifiers.org/clinvar/346404 ^@ NM_000925.3(PDHB):c.793-19_793-14delGATTAT http://identifiers.org/clinvar/349847 ^@ NM_025074.6(FRAS1):c.*1289G>A http://identifiers.org/clinvar/351515 ^@ NM_006846.3(SPINK5):c.119G>C (p.Gly40Ala) http://identifiers.org/clinvar/351521 ^@ NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) http://identifiers.org/clinvar/351523 ^@ NM_006846.3(SPINK5):c.1431-10T>G http://identifiers.org/clinvar/346353 ^@ NM_001457.3(FLNB):c.5917G>A (p.Glu1973Lys) http://identifiers.org/clinvar/346359 ^@ NM_001457.3(FLNB):c.6755A>T (p.Tyr2252Phe) http://identifiers.org/clinvar/346362 ^@ NM_001457.3(FLNB):c.7065C>T (p.His2355=) http://identifiers.org/clinvar/346407 ^@ NM_000925.3(PDHB):c.641C>T (p.Pro214Leu) http://identifiers.org/clinvar/346371 ^@ NM_001457.3(FLNB):c.*262C>A http://identifiers.org/clinvar/351528 ^@ NM_006846.3(SPINK5):c.1820+11G>A http://identifiers.org/clinvar/351537 ^@ NM_006846.3(SPINK5):c.2762A>G (p.Asn921Ser) http://identifiers.org/clinvar/346372 ^@ NM_001457.3(FLNB):c.*395A>G http://identifiers.org/clinvar/346379 ^@ NM_001457.3(FLNB):c.*657T>C http://identifiers.org/clinvar/351541 ^@ NM_006846.3(SPINK5):c.2915A>G (p.His972Arg) http://identifiers.org/clinvar/346382 ^@ NM_001457.3(FLNB):c.*990T>A http://identifiers.org/clinvar/346409 ^@ NM_000925.3(PDHB):c.448G>T (p.Ala150Ser) http://identifiers.org/clinvar/346411 ^@ NM_000925.3(PDHB):c.93G>T (p.Leu31=) http://identifiers.org/clinvar/346383 ^@ NM_001457.3(FLNB):c.*990T>C http://identifiers.org/clinvar/346413 ^@ NM_198859.3(PRICKLE2):c.*4994C>T http://identifiers.org/clinvar/346386 ^@ NM_001457.3(FLNB):c.*1122T>C http://identifiers.org/clinvar/349861 ^@ NM_025074.6(FRAS1):c.*2489T>C http://identifiers.org/clinvar/349868 ^@ NM_025074.6(FRAS1):c.*2957T>A http://identifiers.org/clinvar/351546 ^@ NM_006846.3(SPINK5):c.*44T>C http://identifiers.org/clinvar/346389 ^@ NM_001457.3(FLNB):c.*1278A>G http://identifiers.org/clinvar/351552 ^@ NM_006846.3(SPINK5):c.*358A>G http://identifiers.org/clinvar/346391 ^@ NM_001457.3(FLNB):c.*1370G>A http://identifiers.org/clinvar/346398 ^@ NM_000925.3(PDHB):c.*353T>C http://identifiers.org/clinvar/346401 ^@ NM_000925.3(PDHB):c.*199T>G http://identifiers.org/clinvar/351553 ^@ NM_006846.3(SPINK5):c.*361_*363dupCTC http://identifiers.org/clinvar/346403 ^@ NM_000925.3(PDHB):c.*92C>A http://identifiers.org/clinvar/351926 ^@ NM_054027.4(ANKH):c.-4G>A http://identifiers.org/clinvar/346418 ^@ NM_198859.3(PRICKLE2):c.*4595T>A http://identifiers.org/clinvar/351928 ^@ NM_054027.4(ANKH):c.-80_-79insC http://identifiers.org/clinvar/346425 ^@ NM_198859.3(PRICKLE2):c.*4057G>A http://identifiers.org/clinvar/346427 ^@ NM_198859.3(PRICKLE2):c.*3862C>A http://identifiers.org/clinvar/351930 ^@ NM_054027.4(ANKH):c.-128_-80del49insCGC http://identifiers.org/clinvar/346429 ^@ NM_198859.3(PRICKLE2):c.*3491A>G http://identifiers.org/clinvar/349874 ^@ NM_058172.5(ANTXR2):c.1069G>C (p.Ala357Pro) http://identifiers.org/clinvar/349876 ^@ NM_058172.5(ANTXR2):c.1068C>A (p.Pro356=) http://identifiers.org/clinvar/346415 ^@ NM_198859.3(PRICKLE2):c.*4797G>A http://identifiers.org/clinvar/351931 ^@ NM_054027.4(ANKH):c.-87T>A http://identifiers.org/clinvar/351934 ^@ NM_054027.4(ANKH):c.-273_-271delCCG http://identifiers.org/clinvar/346416 ^@ NM_198859.3(PRICKLE2):c.*4787T>C http://identifiers.org/clinvar/346421 ^@ NM_198859.3(PRICKLE2):c.*4257T>C http://identifiers.org/clinvar/346424 ^@ NM_198859.3(PRICKLE2):c.*4071A>G http://identifiers.org/clinvar/346431 ^@ NM_198859.3(PRICKLE2):c.*3178G>C http://identifiers.org/clinvar/351932 ^@ NM_054027.4(ANKH):c.-273_-271dupCCG http://identifiers.org/clinvar/346442 ^@ NM_198859.3(PRICKLE2):c.*2288_*2296delCCTTTCTCAinsT http://identifiers.org/clinvar/346433 ^@ NM_198859.3(PRICKLE2):c.*2909T>A http://identifiers.org/clinvar/346451 ^@ NM_198859.3(PRICKLE2):c.*1605T>G http://identifiers.org/clinvar/346446 ^@ NM_198859.3(PRICKLE2):c.*1991C>T http://identifiers.org/clinvar/351563 ^@ NM_024577.3(SH3TC2):c.*22552_*22553dupAA http://identifiers.org/clinvar/346448 ^@ NM_198859.3(PRICKLE2):c.*1964C>T http://identifiers.org/clinvar/346454 ^@ NM_198859.3(PRICKLE2):c.*1560C>T http://identifiers.org/clinvar/346462 ^@ NM_198859.3(PRICKLE2):c.*695A>C http://identifiers.org/clinvar/351564 ^@ NM_024577.3(SH3TC2):c.*22553delA http://identifiers.org/clinvar/346465 ^@ NM_198859.3(PRICKLE2):c.*582A>T http://identifiers.org/clinvar/346467 ^@ NM_198859.3(PRICKLE2):c.*580delC http://identifiers.org/clinvar/346468 ^@ NM_198859.3(PRICKLE2):c.*579delT http://identifiers.org/clinvar/349879 ^@ NM_058172.5(ANTXR2):c.745C>T (p.Arg249Trp) http://identifiers.org/clinvar/349880 ^@ NM_058172.5(ANTXR2):c.637-10dupT http://identifiers.org/clinvar/346478 ^@ NM_198859.3(PRICKLE2):c.490G>T (p.Val164Phe) http://identifiers.org/clinvar/346483 ^@ NM_198859.3(PRICKLE2):c.-285A>T http://identifiers.org/clinvar/349884 ^@ NM_058172.5(ANTXR2):c.324T>C (p.Asp108=) http://identifiers.org/clinvar/351565 ^@ NM_024577.3(SH3TC2):c.*22357T>C http://identifiers.org/clinvar/351566 ^@ NM_024577.3(SH3TC2):c.*22291T>C http://identifiers.org/clinvar/349886 ^@ NM_058172.5(ANTXR2):c.233T>C (p.Met78Thr) http://identifiers.org/clinvar/351570 ^@ NM_024577.3(SH3TC2):c.*22035G>A http://identifiers.org/clinvar/351576 ^@ NM_024577.3(SH3TC2):c.*21658A>G http://identifiers.org/clinvar/351577 ^@ NM_024577.3(SH3TC2):c.*21539T>C http://identifiers.org/clinvar/351578 ^@ NM_024577.3(SH3TC2):c.*21532C>A http://identifiers.org/clinvar/346485 ^@ NM_198859.3(PRICKLE2):c.-320A>C http://identifiers.org/clinvar/346487 ^@ NM_198859.3(PRICKLE2):c.-370G>A http://identifiers.org/clinvar/346492 ^@ NM_198859.3(PRICKLE2):c.-570_-568delCCA http://identifiers.org/clinvar/349891 ^@ NM_058172.5(ANTXR2):c.-130G>A http://identifiers.org/clinvar/346497 ^@ NM_000248.3(MITF):c.901C>G (p.Pro301Ala) http://identifiers.org/clinvar/351580 ^@ NM_024577.3(SH3TC2):c.*21472A>G http://identifiers.org/clinvar/351581 ^@ NM_024577.3(SH3TC2):c.*21395T>C http://identifiers.org/clinvar/346498 ^@ NM_000248.3(MITF):c.938G>A (p.Arg313Gln) http://identifiers.org/clinvar/346506 ^@ NM_000248.3(MITF):c.*228C>T http://identifiers.org/clinvar/346512 ^@ NM_000248.3(MITF):c.*421G>T http://identifiers.org/clinvar/351583 ^@ NM_024577.3(SH3TC2):c.*20919_*20920delAA http://identifiers.org/clinvar/351590 ^@ NM_024577.3(SH3TC2):c.*20166T>A http://identifiers.org/clinvar/349893 ^@ NM_058172.5(ANTXR2):c.-262A>G http://identifiers.org/clinvar/349894 ^@ NM_058172.5(ANTXR2):c.-319C>G http://identifiers.org/clinvar/349895 ^@ NM_058172.5(ANTXR2):c.-366G>C http://identifiers.org/clinvar/349906 ^@ NM_015697.7(COQ2):c.*269G>A http://identifiers.org/clinvar/349907 ^@ NM_015697.7(COQ2):c.*257T>C http://identifiers.org/clinvar/346523 ^@ NM_000248.3(MITF):c.*1491A>G http://identifiers.org/clinvar/349909 ^@ NM_015697.7(COQ2):c.*153A>G http://identifiers.org/clinvar/346528 ^@ NM_000248.3(MITF):c.*1933C>T http://identifiers.org/clinvar/346470 ^@ NM_198859.3(PRICKLE2):c.*133G>A http://identifiers.org/clinvar/346471 ^@ NM_198859.3(PRICKLE2):c.1752T>A (p.Ser584=) http://identifiers.org/clinvar/346486 ^@ NM_198859.3(PRICKLE2):c.-363G>A http://identifiers.org/clinvar/346532 ^@ NM_000248.3(MITF):c.*2077G>T http://identifiers.org/clinvar/346488 ^@ NM_198859.3(PRICKLE2):c.-371C>T http://identifiers.org/clinvar/351591 ^@ NM_024577.3(SH3TC2):c.*20142A>G http://identifiers.org/clinvar/351593 ^@ NM_024577.3(SH3TC2):c.*19919T>C http://identifiers.org/clinvar/349910 ^@ NM_015697.7(COQ2):c.*151A>G http://identifiers.org/clinvar/349913 ^@ NM_015697.7(COQ2):c.958C>T (p.Arg320Trp) http://identifiers.org/clinvar/349916 ^@ NM_138982.3(MAPK10):c.*2071T>G http://identifiers.org/clinvar/346542 ^@ NM_000248.3(MITF):c.*2868T>C http://identifiers.org/clinvar/349917 ^@ NM_138982.3(MAPK10):c.*2039A>C http://identifiers.org/clinvar/351594 ^@ NM_024577.3(SH3TC2):c.*19573G>A http://identifiers.org/clinvar/351597 ^@ NM_024577.3(SH3TC2):c.*19519G>A http://identifiers.org/clinvar/349919 ^@ NM_138982.3(MAPK10):c.*1913T>C http://identifiers.org/clinvar/349920 ^@ NM_138982.3(MAPK10):c.*1787_*1789delAAG http://identifiers.org/clinvar/349922 ^@ NM_138982.3(MAPK10):c.*1647C>T http://identifiers.org/clinvar/346543 ^@ NM_000248.3(MITF):c.*3033A>G http://identifiers.org/clinvar/351599 ^@ NM_024577.3(SH3TC2):c.*19406A>T http://identifiers.org/clinvar/351603 ^@ NM_024577.3(SH3TC2):c.*19250T>A http://identifiers.org/clinvar/346489 ^@ NM_198859.3(PRICKLE2):c.-447C>T http://identifiers.org/clinvar/346491 ^@ NM_198859.3(PRICKLE2):c.-559A>G http://identifiers.org/clinvar/351615 ^@ NM_024577.3(SH3TC2):c.*17833T>G http://identifiers.org/clinvar/351616 ^@ NM_024577.3(SH3TC2):c.*17703A>G http://identifiers.org/clinvar/351623 ^@ NM_024577.3(SH3TC2):c.*16947C>T http://identifiers.org/clinvar/351626 ^@ NM_024577.3(SH3TC2):c.*16900_*16901dupCA http://identifiers.org/clinvar/349926 ^@ NM_138982.3(MAPK10):c.*1360A>C http://identifiers.org/clinvar/349930 ^@ NM_138982.3(MAPK10):c.*1224C>T http://identifiers.org/clinvar/349932 ^@ NM_138982.3(MAPK10):c.*835T>A http://identifiers.org/clinvar/351631 ^@ NM_024577.3(SH3TC2):c.*16855A>G http://identifiers.org/clinvar/349933 ^@ NM_138982.3(MAPK10):c.*793C>G http://identifiers.org/clinvar/346493 ^@ NM_000248.3(MITF):c.-36G>A http://identifiers.org/clinvar/346495 ^@ NM_000248.3(MITF):c.323A>T (p.His108Leu) http://identifiers.org/clinvar/349936 ^@ NM_138982.3(MAPK10):c.*622T>C http://identifiers.org/clinvar/351639 ^@ NM_024577.3(SH3TC2):c.*16261C>T http://identifiers.org/clinvar/351653 ^@ NM_024577.3(SH3TC2):c.*15125C>G http://identifiers.org/clinvar/349938 ^@ NM_138982.3(MAPK10):c.*556G>A http://identifiers.org/clinvar/349939 ^@ NM_138982.3(MAPK10):c.*507G>A http://identifiers.org/clinvar/349947 ^@ NM_138982.3(MAPK10):c.1323C>T (p.Thr441=) http://identifiers.org/clinvar/346544 ^@ NM_032682.5(FOXP1):c.*4515C>T http://identifiers.org/clinvar/346549 ^@ NM_032682.5(FOXP1):c.*3818C>T http://identifiers.org/clinvar/351654 ^@ NM_024577.3(SH3TC2):c.*15062G>A http://identifiers.org/clinvar/351663 ^@ NM_024577.3(SH3TC2):c.*14621G>T http://identifiers.org/clinvar/346508 ^@ NM_000248.3(MITF):c.*286G>A http://identifiers.org/clinvar/349952 ^@ NM_138982.3(MAPK10):c.425+11A>C http://identifiers.org/clinvar/346551 ^@ NM_032682.5(FOXP1):c.*3693G>A http://identifiers.org/clinvar/346510 ^@ NM_000248.3(MITF):c.*413_*416delAAAA http://identifiers.org/clinvar/346511 ^@ NM_000248.3(MITF):c.*423_*426delAAGA http://identifiers.org/clinvar/346517 ^@ NM_000248.3(MITF):c.*574_*576dupAAA http://identifiers.org/clinvar/346554 ^@ NM_032682.5(FOXP1):c.*3676dupA http://identifiers.org/clinvar/346556 ^@ NM_032682.5(FOXP1):c.*3608dupT http://identifiers.org/clinvar/346522 ^@ NM_000248.3(MITF):c.*1248T>C http://identifiers.org/clinvar/346560 ^@ NM_032682.5(FOXP1):c.*3416_*3417insTGTGTG http://identifiers.org/clinvar/346562 ^@ NM_032682.5(FOXP1):c.*3415delCinsTGTGTGTGTGT http://identifiers.org/clinvar/346568 ^@ NM_032682.5(FOXP1):c.*3411_*3414delTGTG http://identifiers.org/clinvar/349953 ^@ NM_138982.3(MAPK10):c.385G>A (p.Val129Ile) http://identifiers.org/clinvar/351670 ^@ NM_024577.3(SH3TC2):c.*13465C>A http://identifiers.org/clinvar/349960 ^@ NM_138982.3(MAPK10):c.-199G>A http://identifiers.org/clinvar/346525 ^@ NM_000248.3(MITF):c.*1570C>T http://identifiers.org/clinvar/349964 ^@ NM_138982.3(MAPK10):c.-588T>C http://identifiers.org/clinvar/346534 ^@ NM_000248.3(MITF):c.*2159dupG http://identifiers.org/clinvar/351675 ^@ NM_024577.3(SH3TC2):c.*12807G>A http://identifiers.org/clinvar/351684 ^@ NM_024577.3(SH3TC2):c.*12111_*12112insAA http://identifiers.org/clinvar/349966 ^@ NM_138982.3(MAPK10):c.-660C>T http://identifiers.org/clinvar/349967 ^@ NM_138982.3(MAPK10):c.-674C>T http://identifiers.org/clinvar/351687 ^@ NM_024577.3(SH3TC2):c.*12108_*12110delAAA http://identifiers.org/clinvar/346564 ^@ NM_032682.5(FOXP1):c.*3411_*3414dupTGTG http://identifiers.org/clinvar/346571 ^@ NM_032682.5(FOXP1):c.*3402G>A http://identifiers.org/clinvar/346573 ^@ NM_032682.5(FOXP1):c.*3303dupC http://identifiers.org/clinvar/346536 ^@ NM_000248.3(MITF):c.*2170A>G http://identifiers.org/clinvar/351688 ^@ NM_024577.3(SH3TC2):c.*12088_*12091delGAAA http://identifiers.org/clinvar/351691 ^@ NM_024577.3(SH3TC2):c.*11593G>A http://identifiers.org/clinvar/351699 ^@ NM_024577.3(SH3TC2):c.*11010A>G http://identifiers.org/clinvar/346545 ^@ NM_032682.5(FOXP1):c.*4411G>A http://identifiers.org/clinvar/346547 ^@ NM_032682.5(FOXP1):c.*4076C>A http://identifiers.org/clinvar/346550 ^@ NM_032682.5(FOXP1):c.*3722delT http://identifiers.org/clinvar/346576 ^@ NM_032682.5(FOXP1):c.*2979C>T http://identifiers.org/clinvar/346552 ^@ NM_032682.5(FOXP1):c.*3685G>A http://identifiers.org/clinvar/351700 ^@ NM_024577.3(SH3TC2):c.*10984G>T http://identifiers.org/clinvar/351704 ^@ NM_024577.3(SH3TC2):c.*10863C>T http://identifiers.org/clinvar/346553 ^@ NM_032682.5(FOXP1):c.*3677_*3678insA http://identifiers.org/clinvar/346555 ^@ NM_032682.5(FOXP1):c.*3659T>A http://identifiers.org/clinvar/351706 ^@ NM_024577.3(SH3TC2):c.*10756G>T http://identifiers.org/clinvar/351712 ^@ NM_024577.3(SH3TC2):c.*10132A>G http://identifiers.org/clinvar/351722 ^@ NM_024577.3(SH3TC2):c.*10083A>G http://identifiers.org/clinvar/346579 ^@ NM_032682.5(FOXP1):c.*2832delG http://identifiers.org/clinvar/346580 ^@ NM_032682.5(FOXP1):c.*2831dupA http://identifiers.org/clinvar/349971 ^@ NM_004407.3(DMP1):c.289A>G (p.Lys97Glu) http://identifiers.org/clinvar/351724 ^@ NM_024577.3(SH3TC2):c.*10060C>A http://identifiers.org/clinvar/351729 ^@ NM_024577.3(SH3TC2):c.*9998_*10013dup16 http://identifiers.org/clinvar/349972 ^@ NM_004407.3(DMP1):c.370A>C (p.Lys124Gln) http://identifiers.org/clinvar/349973 ^@ NM_004407.3(DMP1):c.428C>T (p.Thr143Ile) http://identifiers.org/clinvar/349987 ^@ NM_004407.3(DMP1):c.1448A>C (p.Asn483Thr) http://identifiers.org/clinvar/346557 ^@ NM_032682.5(FOXP1):c.*3424G>A http://identifiers.org/clinvar/351735 ^@ NM_024577.3(SH3TC2):c.*9969T>C http://identifiers.org/clinvar/346561 ^@ NM_032682.5(FOXP1):c.*3415delCinsTGTGTGTGT http://identifiers.org/clinvar/346594 ^@ NM_032682.5(FOXP1):c.*2092dupA http://identifiers.org/clinvar/349992 ^@ NM_004407.3(DMP1):c.*280C>T http://identifiers.org/clinvar/346596 ^@ NM_032682.5(FOXP1):c.*1857A>G http://identifiers.org/clinvar/351737 ^@ NM_024577.3(SH3TC2):c.*9830C>T http://identifiers.org/clinvar/351738 ^@ NM_024577.3(SH3TC2):c.*9503C>T http://identifiers.org/clinvar/349996 ^@ NM_004407.3(DMP1):c.*602C>A http://identifiers.org/clinvar/351749 ^@ NM_024577.3(SH3TC2):c.*8567G>A http://identifiers.org/clinvar/346572 ^@ NM_032682.5(FOXP1):c.*3313T>C http://identifiers.org/clinvar/350003 ^@ NM_004407.3(DMP1):c.*905A>G http://identifiers.org/clinvar/350006 ^@ NM_000297.3(PKD2):c.-82G>A http://identifiers.org/clinvar/351756 ^@ NM_024577.3(SH3TC2):c.*8283A>T http://identifiers.org/clinvar/351760 ^@ NM_024577.3(SH3TC2):c.*8216T>C http://identifiers.org/clinvar/346597 ^@ NM_032682.5(FOXP1):c.*1669dupT http://identifiers.org/clinvar/351767 ^@ NM_024577.3(SH3TC2):c.*7394A>G http://identifiers.org/clinvar/351770 ^@ NM_024577.3(SH3TC2):c.*7291G>A http://identifiers.org/clinvar/351776 ^@ NM_024577.3(SH3TC2):c.*7021_*7025delATATT http://identifiers.org/clinvar/346574 ^@ NM_032682.5(FOXP1):c.*3192delA http://identifiers.org/clinvar/346586 ^@ NM_032682.5(FOXP1):c.*2473T>A http://identifiers.org/clinvar/350022 ^@ NM_000297.3(PKD2):c.1354A>G (p.Ile452Val) http://identifiers.org/clinvar/351777 ^@ NM_024577.3(SH3TC2):c.*7006T>C http://identifiers.org/clinvar/351778 ^@ NM_024577.3(SH3TC2):c.*6993T>C http://identifiers.org/clinvar/350026 ^@ NM_000297.3(PKD2):c.2240+10A>G http://identifiers.org/clinvar/350028 ^@ NM_000297.3(PKD2):c.2295T>C (p.Asp765=) http://identifiers.org/clinvar/350032 ^@ NM_000297.3(PKD2):c.2829C>T (p.Ser943=) http://identifiers.org/clinvar/351781 ^@ NM_024577.3(SH3TC2):c.*6820T>C http://identifiers.org/clinvar/350033 ^@ NM_000297.3(PKD2):c.*174G>T http://identifiers.org/clinvar/346587 ^@ NM_032682.5(FOXP1):c.*2362A>G http://identifiers.org/clinvar/350037 ^@ NM_000297.3(PKD2):c.*256C>T http://identifiers.org/clinvar/350038 ^@ NM_000297.3(PKD2):c.*507T>G http://identifiers.org/clinvar/351787 ^@ NM_024577.3(SH3TC2):c.*6510G>A http://identifiers.org/clinvar/350045 ^@ NM_000297.3(PKD2):c.*1030G>A http://identifiers.org/clinvar/346599 ^@ NM_032682.5(FOXP1):c.*1536G>T http://identifiers.org/clinvar/346588 ^@ NM_032682.5(FOXP1):c.*2337G>C http://identifiers.org/clinvar/350050 ^@ NM_000297.3(PKD2):c.*1588G>A http://identifiers.org/clinvar/351788 ^@ NM_024577.3(SH3TC2):c.*6470T>C http://identifiers.org/clinvar/350051 ^@ NM_000297.3(PKD2):c.*1611T>G http://identifiers.org/clinvar/351792 ^@ NM_024577.3(SH3TC2):c.*6302T>A http://identifiers.org/clinvar/346601 ^@ NM_032682.5(FOXP1):c.*1523G>T http://identifiers.org/clinvar/350055 ^@ NM_000297.3(PKD2):c.*1997T>C http://identifiers.org/clinvar/351798 ^@ NM_024577.3(SH3TC2):c.*6047T>A http://identifiers.org/clinvar/350059 ^@ NM_000345.3(SNCA):c.*2291C>T http://identifiers.org/clinvar/346612 ^@ NM_032682.5(FOXP1):c.*1104C>A http://identifiers.org/clinvar/351803 ^@ NM_024577.3(SH3TC2):c.*5740C>T http://identifiers.org/clinvar/351809 ^@ NM_024577.3(SH3TC2):c.*5419G>A http://identifiers.org/clinvar/346618 ^@ NM_032682.5(FOXP1):c.*1037C>A http://identifiers.org/clinvar/346636 ^@ NM_032682.5(FOXP1):c.*222C>T http://identifiers.org/clinvar/346637 ^@ NM_032682.5(FOXP1):c.*119A>G http://identifiers.org/clinvar/346639 ^@ NM_032682.5(FOXP1):c.*56dupA http://identifiers.org/clinvar/350062 ^@ NM_000345.3(SNCA):c.*2227C>A http://identifiers.org/clinvar/350068 ^@ NM_000345.3(SNCA):c.*1677C>T http://identifiers.org/clinvar/346592 ^@ NM_032682.5(FOXP1):c.*2204_*2205delGA http://identifiers.org/clinvar/346593 ^@ NM_032682.5(FOXP1):c.*2157G>A http://identifiers.org/clinvar/346598 ^@ NM_032682.5(FOXP1):c.*1541dupG http://identifiers.org/clinvar/346642 ^@ NM_032682.5(FOXP1):c.1722+12G>A http://identifiers.org/clinvar/346643 ^@ NM_032682.5(FOXP1):c.1641A>G (p.Gln547=) http://identifiers.org/clinvar/346646 ^@ NM_032682.5(FOXP1):c.1217C>G (p.Thr406Ser) http://identifiers.org/clinvar/346650 ^@ NM_032682.5(FOXP1):c.975-14A>G http://identifiers.org/clinvar/350071 ^@ NM_000345.3(SNCA):c.*1311delC http://identifiers.org/clinvar/346652 ^@ NM_032682.5(FOXP1):c.216G>A (p.Gln72=) http://identifiers.org/clinvar/346602 ^@ NM_032682.5(FOXP1):c.*1409T>C http://identifiers.org/clinvar/346603 ^@ NM_032682.5(FOXP1):c.*1352_*1355dupTTTG http://identifiers.org/clinvar/346654 ^@ NM_032682.5(FOXP1):c.-112C>T http://identifiers.org/clinvar/346604 ^@ NM_032682.5(FOXP1):c.*1306G>A http://identifiers.org/clinvar/346620 ^@ NM_032682.5(FOXP1):c.*974G>A http://identifiers.org/clinvar/346623 ^@ NM_032682.5(FOXP1):c.*740_*743dupAATG http://identifiers.org/clinvar/351810 ^@ NM_024577.3(SH3TC2):c.*5368C>T http://identifiers.org/clinvar/351814 ^@ NM_024577.3(SH3TC2):c.*5020C>T http://identifiers.org/clinvar/346625 ^@ NM_032682.5(FOXP1):c.*616C>T http://identifiers.org/clinvar/346628 ^@ NM_032682.5(FOXP1):c.*511delC http://identifiers.org/clinvar/346632 ^@ NM_032682.5(FOXP1):c.*507_*509delTTT http://identifiers.org/clinvar/351818 ^@ NM_024577.3(SH3TC2):c.*4713G>A http://identifiers.org/clinvar/351821 ^@ NM_024577.3(SH3TC2):c.*4555A>G http://identifiers.org/clinvar/346634 ^@ NM_032682.5(FOXP1):c.*479delC http://identifiers.org/clinvar/351828 ^@ NM_024577.3(SH3TC2):c.*4232G>A http://identifiers.org/clinvar/351829 ^@ NM_024577.3(SH3TC2):c.*4209A>G http://identifiers.org/clinvar/351830 ^@ NM_024577.3(SH3TC2):c.*4183T>C http://identifiers.org/clinvar/351833 ^@ NM_024577.3(SH3TC2):c.*3903A>G http://identifiers.org/clinvar/346659 ^@ NM_032682.5(FOXP1):c.-393G>A http://identifiers.org/clinvar/346662 ^@ NM_032682.5(FOXP1):c.-482G>C http://identifiers.org/clinvar/346664 ^@ NM_032682.5(FOXP1):c.-520T>A http://identifiers.org/clinvar/351834 ^@ NM_024577.3(SH3TC2):c.*3860G>A http://identifiers.org/clinvar/351840 ^@ NM_024577.3(SH3TC2):c.*3165G>A http://identifiers.org/clinvar/346666 ^@ NM_002942.4(ROBO2):c.-562A>G http://identifiers.org/clinvar/350081 ^@ NM_000345.3(SNCA):c.*1291_*1292insTTTTT http://identifiers.org/clinvar/346667 ^@ NM_002942.4(ROBO2):c.-542T>C http://identifiers.org/clinvar/351846 ^@ NM_024577.3(SH3TC2):c.*2987C>T http://identifiers.org/clinvar/346672 ^@ NM_002942.4(ROBO2):c.-166C>T http://identifiers.org/clinvar/351851 ^@ NM_024577.3(SH3TC2):c.*2624A>G http://identifiers.org/clinvar/351852 ^@ NM_024577.3(SH3TC2):c.*2500C>A http://identifiers.org/clinvar/351860 ^@ NM_024577.3(SH3TC2):c.*2081T>G http://identifiers.org/clinvar/346638 ^@ NM_032682.5(FOXP1):c.*58dupA http://identifiers.org/clinvar/346647 ^@ NM_032682.5(FOXP1):c.1155G>A (p.Leu385=) http://identifiers.org/clinvar/346651 ^@ NM_032682.5(FOXP1):c.301A>G (p.Met101Val) http://identifiers.org/clinvar/346653 ^@ NM_032682.5(FOXP1):c.-91G>A http://identifiers.org/clinvar/351869 ^@ NM_024577.3(SH3TC2):c.*1310G>A http://identifiers.org/clinvar/351880 ^@ NM_024577.3(SH3TC2):c.*837G>A http://identifiers.org/clinvar/346656 ^@ NM_032682.5(FOXP1):c.-249C>T http://identifiers.org/clinvar/346660 ^@ NM_032682.5(FOXP1):c.-425A>G http://identifiers.org/clinvar/346663 ^@ NM_032682.5(FOXP1):c.-494A>G http://identifiers.org/clinvar/350100 ^@ NM_000345.3(SNCA):c.*277G>T http://identifiers.org/clinvar/351882 ^@ NM_024577.3(SH3TC2):c.*711A>C http://identifiers.org/clinvar/351885 ^@ NM_024577.3(SH3TC2):c.*578C>T http://identifiers.org/clinvar/351888 ^@ NM_024577.3(SH3TC2):c.*281A>G http://identifiers.org/clinvar/351892 ^@ NM_024577.3(SH3TC2):c.*99G>A http://identifiers.org/clinvar/346673 ^@ NM_002942.4(ROBO2):c.-110C>G http://identifiers.org/clinvar/346674 ^@ NM_002942.4(ROBO2):c.62-14G>T http://identifiers.org/clinvar/346676 ^@ NM_002942.4(ROBO2):c.462C>T (p.Cys154=) http://identifiers.org/clinvar/346678 ^@ NM_002942.4(ROBO2):c.547-3C>T http://identifiers.org/clinvar/351896 ^@ NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) http://identifiers.org/clinvar/346710 ^@ NM_002942.4(ROBO2):c.3773C>T (p.Thr1258Ile) http://identifiers.org/clinvar/346665 ^@ NM_002942.4(ROBO2):c.-571C>G http://identifiers.org/clinvar/351903 ^@ NM_024577.3(SH3TC2):c.2872+9G>A http://identifiers.org/clinvar/346670 ^@ NM_002942.4(ROBO2):c.-404G>C http://identifiers.org/clinvar/346720 ^@ NM_002942.4(ROBO2):c.*610T>C http://identifiers.org/clinvar/346726 ^@ NM_002942.4(ROBO2):c.*1013C>T http://identifiers.org/clinvar/350110 ^@ NM_000345.3(SNCA):c.-129G>A http://identifiers.org/clinvar/346671 ^@ NM_002942.4(ROBO2):c.-238T>G http://identifiers.org/clinvar/350115 ^@ NM_001203.2(BMPR1B):c.247-9C>T http://identifiers.org/clinvar/350119 ^@ NM_001203.2(BMPR1B):c.728G>A (p.Arg243Lys) http://identifiers.org/clinvar/346727 ^@ NM_002942.4(ROBO2):c.*1040T>G http://identifiers.org/clinvar/351904 ^@ NM_024577.3(SH3TC2):c.2657G>A (p.Ser886Asn) http://identifiers.org/clinvar/346679 ^@ NM_002942.4(ROBO2):c.558A>G (p.Gly186=) http://identifiers.org/clinvar/346680 ^@ NM_002942.4(ROBO2):c.807-7T>A http://identifiers.org/clinvar/351905 ^@ NM_024577.3(SH3TC2):c.2398C>T (p.Leu800Phe) http://identifiers.org/clinvar/346733 ^@ NM_002942.4(ROBO2):c.*1245T>A http://identifiers.org/clinvar/346736 ^@ NM_002942.4(ROBO2):c.*1516G>A http://identifiers.org/clinvar/346740 ^@ NM_002942.4(ROBO2):c.*1888C>T http://identifiers.org/clinvar/350121 ^@ NM_001203.2(BMPR1B):c.891C>T (p.Asp297=) http://identifiers.org/clinvar/350124 ^@ NM_001203.2(BMPR1B):c.1105A>G (p.Asn369Asp) http://identifiers.org/clinvar/346682 ^@ NM_002942.4(ROBO2):c.990A>G (p.Thr330=) http://identifiers.org/clinvar/346686 ^@ NM_002942.4(ROBO2):c.1309C>T (p.Leu437=) http://identifiers.org/clinvar/351907 ^@ NM_024577.3(SH3TC2):c.2094C>T (p.Ile698=) http://identifiers.org/clinvar/351914 ^@ NM_024577.3(SH3TC2):c.1233_1235dupTCA (p.His411_Gln412insHis) http://identifiers.org/clinvar/346689 ^@ NM_002942.4(ROBO2):c.1793T>C (p.Ile598Thr) http://identifiers.org/clinvar/346692 ^@ NM_002942.4(ROBO2):c.1849+15T>C http://identifiers.org/clinvar/350129 ^@ NM_001203.2(BMPR1B):c.*126G>A http://identifiers.org/clinvar/351916 ^@ NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) http://identifiers.org/clinvar/351917 ^@ NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) http://identifiers.org/clinvar/350130 ^@ NM_001203.2(BMPR1B):c.*133C>A http://identifiers.org/clinvar/350131 ^@ NM_001203.2(BMPR1B):c.*141C>T http://identifiers.org/clinvar/350132 ^@ NM_001203.2(BMPR1B):c.*195C>T http://identifiers.org/clinvar/351923 ^@ NM_024577.3(SH3TC2):c.255C>T (p.Asp85=) http://identifiers.org/clinvar/346741 ^@ NM_002942.4(ROBO2):c.*1894A>G http://identifiers.org/clinvar/351937 ^@ NM_000440.2(PDE6A):c.*2853C>G http://identifiers.org/clinvar/346744 ^@ NM_002942.4(ROBO2):c.*1958C>T http://identifiers.org/clinvar/346749 ^@ NM_002942.4(ROBO2):c.*2355T>A http://identifiers.org/clinvar/346753 ^@ NM_002942.4(ROBO2):c.*2675C>G http://identifiers.org/clinvar/351939 ^@ NM_000440.2(PDE6A):c.*2769A>C http://identifiers.org/clinvar/346693 ^@ NM_002942.4(ROBO2):c.1944T>C (p.Thr648=) http://identifiers.org/clinvar/350136 ^@ NM_001203.2(BMPR1B):c.*391C>A http://identifiers.org/clinvar/351943 ^@ NM_000440.2(PDE6A):c.*2542G>A http://identifiers.org/clinvar/351949 ^@ NM_000440.2(PDE6A):c.*2102_*2103delCT http://identifiers.org/clinvar/351952 ^@ NM_000440.2(PDE6A):c.*2077_*2078dupAA http://identifiers.org/clinvar/346755 ^@ NM_002942.4(ROBO2):c.*2789G>A http://identifiers.org/clinvar/346760 ^@ NM_002942.4(ROBO2):c.*3001A>G http://identifiers.org/clinvar/346762 ^@ NM_002942.4(ROBO2):c.*3183G>A http://identifiers.org/clinvar/346697 ^@ NM_002942.4(ROBO2):c.2074C>T (p.Pro692Ser) http://identifiers.org/clinvar/351953 ^@ NM_000440.2(PDE6A):c.*2068delG http://identifiers.org/clinvar/346763 ^@ NM_002942.4(ROBO2):c.*3236G>A http://identifiers.org/clinvar/351955 ^@ NM_000440.2(PDE6A):c.*1967C>T http://identifiers.org/clinvar/346767 ^@ NM_002942.4(ROBO2):c.*3536G>A http://identifiers.org/clinvar/346770 ^@ NM_002942.4(ROBO2):c.*3725T>C http://identifiers.org/clinvar/346779 ^@ NM_000158.3(GBE1):c.*395A>G http://identifiers.org/clinvar/346702 ^@ NM_002942.4(ROBO2):c.2961T>C (p.Ser987=) http://identifiers.org/clinvar/350143 ^@ NM_001203.2(BMPR1B):c.*824_*834delTTTTTTTTTTT http://identifiers.org/clinvar/346786 ^@ NM_000158.3(GBE1):c.1803G>A (p.Gln601=) http://identifiers.org/clinvar/350145 ^@ NM_001203.2(BMPR1B):c.*833_*834dupTT http://identifiers.org/clinvar/351961 ^@ NM_000440.2(PDE6A):c.*1389T>C http://identifiers.org/clinvar/351962 ^@ NM_000440.2(PDE6A):c.*1365G>A http://identifiers.org/clinvar/350151 ^@ NM_001203.2(BMPR1B):c.*1361G>A http://identifiers.org/clinvar/350153 ^@ NM_001203.2(BMPR1B):c.*1576G>A http://identifiers.org/clinvar/350154 ^@ NM_001203.2(BMPR1B):c.*1899A>G http://identifiers.org/clinvar/346705 ^@ NM_002942.4(ROBO2):c.3408C>T (p.Gly1136=) http://identifiers.org/clinvar/351964 ^@ NM_000440.2(PDE6A):c.*1315G>A http://identifiers.org/clinvar/351972 ^@ NM_000440.2(PDE6A):c.*608T>C http://identifiers.org/clinvar/346708 ^@ NM_002942.4(ROBO2):c.3663C>T (p.Ala1221=) http://identifiers.org/clinvar/346716 ^@ NM_002942.4(ROBO2):c.4135+5G>C http://identifiers.org/clinvar/350156 ^@ NM_001203.2(BMPR1B):c.*1972C>A http://identifiers.org/clinvar/350168 ^@ NM_001203.2(BMPR1B):c.*2433A>G http://identifiers.org/clinvar/346792 ^@ NM_000158.3(GBE1):c.859G>C (p.Val287Leu) http://identifiers.org/clinvar/351973 ^@ NM_000440.2(PDE6A):c.*599C>T http://identifiers.org/clinvar/346796 ^@ NM_000158.3(GBE1):c.144-7T>C http://identifiers.org/clinvar/350175 ^@ NM_001203.2(BMPR1B):c.*3255C>G http://identifiers.org/clinvar/351977 ^@ NM_000440.2(PDE6A):c.*178T>C http://identifiers.org/clinvar/351985 ^@ NM_000440.2(PDE6A):c.1936A>G (p.Ile646Val) http://identifiers.org/clinvar/351986 ^@ NM_000440.2(PDE6A):c.1745G>A (p.Arg582His) http://identifiers.org/clinvar/346728 ^@ NM_002942.4(ROBO2):c.*1052G>A http://identifiers.org/clinvar/346732 ^@ NM_002942.4(ROBO2):c.*1216C>T http://identifiers.org/clinvar/346739 ^@ NM_002942.4(ROBO2):c.*1739A>G http://identifiers.org/clinvar/346751 ^@ NM_002942.4(ROBO2):c.*2570C>A http://identifiers.org/clinvar/346799 ^@ NM_014043.3(CHMP2B):c.-259C>A http://identifiers.org/clinvar/346811 ^@ NM_014043.3(CHMP2B):c.*231T>C http://identifiers.org/clinvar/351988 ^@ NM_000440.2(PDE6A):c.1614A>G (p.Pro538=) http://identifiers.org/clinvar/351990 ^@ NM_000440.2(PDE6A):c.1296A>G (p.Leu432=) http://identifiers.org/clinvar/350180 ^@ NM_001203.2(BMPR1B):c.*3474A>C http://identifiers.org/clinvar/350182 ^@ NM_001203.2(BMPR1B):c.*3646G>A http://identifiers.org/clinvar/351991 ^@ NM_000440.2(PDE6A):c.1255C>T (p.Leu419Phe) http://identifiers.org/clinvar/351998 ^@ NM_000440.2(PDE6A):c.628-5T>G http://identifiers.org/clinvar/352006 ^@ NM_000440.2(PDE6A):c.274G>A (p.Asp92Asn) http://identifiers.org/clinvar/346754 ^@ NM_002942.4(ROBO2):c.*2737G>A http://identifiers.org/clinvar/346758 ^@ NM_002942.4(ROBO2):c.*2886A>C http://identifiers.org/clinvar/346759 ^@ NM_002942.4(ROBO2):c.*2964A>T http://identifiers.org/clinvar/346815 ^@ NM_014043.3(CHMP2B):c.*899T>A http://identifiers.org/clinvar/346768 ^@ NM_002942.4(ROBO2):c.*3608dupA http://identifiers.org/clinvar/352008 ^@ NM_000440.2(PDE6A):c.84C>T (p.Tyr28=) http://identifiers.org/clinvar/352020 ^@ NM_000112.3(SLC26A2):c.-40G>A http://identifiers.org/clinvar/352026 ^@ NM_000112.3(SLC26A2):c.1252A>G (p.Met418Val) http://identifiers.org/clinvar/352027 ^@ NM_000112.3(SLC26A2):c.1402C>T (p.Leu468Phe) http://identifiers.org/clinvar/346774 ^@ NM_000158.3(GBE1):c.*598G>C http://identifiers.org/clinvar/346776 ^@ NM_000158.3(GBE1):c.*555G>A http://identifiers.org/clinvar/352032 ^@ NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) http://identifiers.org/clinvar/346777 ^@ NM_000158.3(GBE1):c.*494A>C http://identifiers.org/clinvar/346820 ^@ NM_014043.3(CHMP2B):c.*1190G>T http://identifiers.org/clinvar/350194 ^@ NM_020041.2(SLC2A9):c.1599T>C (p.Asp533=) http://identifiers.org/clinvar/346821 ^@ NM_014043.3(CHMP2B):c.*1376G>C http://identifiers.org/clinvar/346824 ^@ NM_014043.3(CHMP2B):c.*1503G>C http://identifiers.org/clinvar/350186 ^@ NM_000203.4(IDUA):c.-71C>T http://identifiers.org/clinvar/346827 ^@ NM_014043.3(CHMP2B):c.*1641A>C http://identifiers.org/clinvar/352035 ^@ NM_000112.3(SLC26A2):c.*216T>G http://identifiers.org/clinvar/346828 ^@ NM_000306.3(POU1F1):c.*245A>G http://identifiers.org/clinvar/352038 ^@ NM_000112.3(SLC26A2):c.*330G>T http://identifiers.org/clinvar/350202 ^@ NM_020041.2(SLC2A9):c.1221C>T (p.His407=) http://identifiers.org/clinvar/346780 ^@ NM_000158.3(GBE1):c.*308C>T http://identifiers.org/clinvar/346834 ^@ NM_000306.3(POU1F1):c.*139dupT http://identifiers.org/clinvar/346782 ^@ NM_000158.3(GBE1):c.*152C>A http://identifiers.org/clinvar/346783 ^@ NM_000158.3(GBE1):c.2035C>T (p.Arg679Cys) http://identifiers.org/clinvar/346843 ^@ NM_000306.3(POU1F1):c.427C>A (p.Arg143=) http://identifiers.org/clinvar/352039 ^@ NM_000112.3(SLC26A2):c.*394T>A http://identifiers.org/clinvar/350204 ^@ NM_020041.2(SLC2A9):c.1124T>C (p.Ile375Thr) http://identifiers.org/clinvar/352041 ^@ NM_000112.3(SLC26A2):c.*590C>T http://identifiers.org/clinvar/350207 ^@ NM_020041.2(SLC2A9):c.1049C>T (p.Pro350Leu) http://identifiers.org/clinvar/346852 ^@ NM_033337.2(CAV3):c.*433C>T http://identifiers.org/clinvar/352044 ^@ NM_000112.3(SLC26A2):c.*938T>C http://identifiers.org/clinvar/346791 ^@ NM_000158.3(GBE1):c.1237-15C>T http://identifiers.org/clinvar/346855 ^@ NM_033337.2(CAV3):c.*722G>A http://identifiers.org/clinvar/346858 ^@ NM_033337.2(CAV3):c.*763G>A http://identifiers.org/clinvar/352051 ^@ NM_000112.3(SLC26A2):c.*1543C>T http://identifiers.org/clinvar/346860 ^@ NM_033337.2(CAV3):c.*805C>A http://identifiers.org/clinvar/350208 ^@ NM_020041.2(SLC2A9):c.1046C>T (p.Pro349Leu) http://identifiers.org/clinvar/352057 ^@ NM_000112.3(SLC26A2):c.*2176A>G http://identifiers.org/clinvar/346793 ^@ NM_000158.3(GBE1):c.721A>G (p.Met241Val) http://identifiers.org/clinvar/352059 ^@ NM_000112.3(SLC26A2):c.*2289T>C http://identifiers.org/clinvar/346795 ^@ NM_000158.3(GBE1):c.405C>T (p.Leu135=) http://identifiers.org/clinvar/352063 ^@ NM_000112.3(SLC26A2):c.*2470T>G http://identifiers.org/clinvar/346798 ^@ NM_000158.3(GBE1):c.-195G>T http://identifiers.org/clinvar/352064 ^@ NM_000112.3(SLC26A2):c.*2603T>C http://identifiers.org/clinvar/346801 ^@ NM_014043.3(CHMP2B):c.-151C>A http://identifiers.org/clinvar/350212 ^@ NM_020041.2(SLC2A9):c.883G>A (p.Val295Met) http://identifiers.org/clinvar/350216 ^@ NM_020041.2(SLC2A9):c.843C>T (p.Asp281=) http://identifiers.org/clinvar/350218 ^@ NM_020041.2(SLC2A9):c.824C>T (p.Thr275Met) http://identifiers.org/clinvar/352066 ^@ NM_000112.3(SLC26A2):c.*2617C>T http://identifiers.org/clinvar/352073 ^@ NM_000112.3(SLC26A2):c.*3261A>C http://identifiers.org/clinvar/352074 ^@ NM_000112.3(SLC26A2):c.*3307A>G http://identifiers.org/clinvar/346864 ^@ NM_033337.2(CAV3):c.*853T>C http://identifiers.org/clinvar/346868 ^@ NM_000313.3(PROS1):c.*714T>C http://identifiers.org/clinvar/347010 ^@ NM_000253.3(MTTP):c.-214G>A http://identifiers.org/clinvar/347011 ^@ NM_000253.3(MTTP):c.-205G>A http://identifiers.org/clinvar/347018 ^@ NM_000253.3(MTTP):c.-6G>A http://identifiers.org/clinvar/352077 ^@ NM_000112.3(SLC26A2):c.*3466C>G http://identifiers.org/clinvar/346804 ^@ NM_014043.3(CHMP2B):c.34+8C>T http://identifiers.org/clinvar/352092 ^@ NM_000112.3(SLC26A2):c.*4799G>A http://identifiers.org/clinvar/346807 ^@ NM_014043.3(CHMP2B):c.364T>C (p.Leu122=) http://identifiers.org/clinvar/347031 ^@ NM_000253.3(MTTP):c.933C>A (p.Thr311=) http://identifiers.org/clinvar/346871 ^@ NM_000313.3(PROS1):c.*520A>C http://identifiers.org/clinvar/352094 ^@ NM_000112.3(SLC26A2):c.*4930C>T http://identifiers.org/clinvar/352105 ^@ NM_005211.3(CSF1R):c.*539C>A http://identifiers.org/clinvar/346809 ^@ NM_014043.3(CHMP2B):c.*92dupC http://identifiers.org/clinvar/346818 ^@ NM_014043.3(CHMP2B):c.*1008_*1011delTTAA http://identifiers.org/clinvar/346822 ^@ NM_014043.3(CHMP2B):c.*1408A>G http://identifiers.org/clinvar/346825 ^@ NM_014043.3(CHMP2B):c.*1588C>T http://identifiers.org/clinvar/346839 ^@ NM_000306.3(POU1F1):c.666-6C>T http://identifiers.org/clinvar/352116 ^@ NM_005211.3(CSF1R):c.*199A>G http://identifiers.org/clinvar/347032 ^@ NM_000253.3(MTTP):c.1016C>T (p.Ala339Val) http://identifiers.org/clinvar/352117 ^@ NM_005211.3(CSF1R):c.*156G>A http://identifiers.org/clinvar/347034 ^@ NM_000253.3(MTTP):c.1477G>T (p.Ala493Ser) http://identifiers.org/clinvar/346873 ^@ NM_000313.3(PROS1):c.*370G>A http://identifiers.org/clinvar/346875 ^@ NM_000313.3(PROS1):c.*221delA http://identifiers.org/clinvar/346879 ^@ NM_000313.3(PROS1):c.*86T>C http://identifiers.org/clinvar/352123 ^@ NM_005211.3(CSF1R):c.2862C>T (p.Cys954=) http://identifiers.org/clinvar/346886 ^@ NM_000313.3(PROS1):c.805G>A (p.Gly269Arg) http://identifiers.org/clinvar/346892 ^@ NM_000313.3(PROS1):c.234G>A (p.Thr78=) http://identifiers.org/clinvar/352142 ^@ NM_005211.3(CSF1R):c.1929C>T (p.His643=) http://identifiers.org/clinvar/352144 ^@ NM_005211.3(CSF1R):c.1716C>T (p.Asn572=) http://identifiers.org/clinvar/346896 ^@ NM_000313.3(PROS1):c.-60G>C http://identifiers.org/clinvar/346847 ^@ NM_000306.3(POU1F1):c.-48T>C http://identifiers.org/clinvar/352146 ^@ NM_005211.3(CSF1R):c.1626+12C>T http://identifiers.org/clinvar/352150 ^@ NM_005211.3(CSF1R):c.1520C>T (p.Thr507Met) http://identifiers.org/clinvar/352158 ^@ NM_005211.3(CSF1R):c.1083-8T>C http://identifiers.org/clinvar/347037 ^@ NM_000253.3(MTTP):c.1769+9C>T http://identifiers.org/clinvar/346897 ^@ NM_000313.3(PROS1):c.-62T>G http://identifiers.org/clinvar/346848 ^@ NM_000306.3(POU1F1):c.-105T>C http://identifiers.org/clinvar/346850 ^@ NM_033337.2(CAV3):c.*276C>T http://identifiers.org/clinvar/346856 ^@ NM_033337.2(CAV3):c.*725T>C http://identifiers.org/clinvar/346859 ^@ NM_033337.2(CAV3):c.*788C>A http://identifiers.org/clinvar/346863 ^@ NM_033337.2(CAV3):c.*852G>A http://identifiers.org/clinvar/346878 ^@ NM_000313.3(PROS1):c.*119T>C http://identifiers.org/clinvar/346902 ^@ NM_182896.2(ARL13B):c.-257C>T http://identifiers.org/clinvar/352159 ^@ NM_005211.3(CSF1R):c.881G>A (p.Arg294Gln) http://identifiers.org/clinvar/347038 ^@ NM_000253.3(MTTP):c.1769+14C>T http://identifiers.org/clinvar/346880 ^@ NM_000313.3(PROS1):c.2003C>T (p.Ser668Leu) http://identifiers.org/clinvar/346883 ^@ NM_000313.3(PROS1):c.1323+8T>G http://identifiers.org/clinvar/346884 ^@ NM_000313.3(PROS1):c.1032C>T (p.Ile344=) http://identifiers.org/clinvar/347046 ^@ NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) http://identifiers.org/clinvar/346890 ^@ NM_000313.3(PROS1):c.585T>C (p.Asn195=) http://identifiers.org/clinvar/352166 ^@ NM_005211.3(CSF1R):c.721A>G (p.Asn241Asp) http://identifiers.org/clinvar/346891 ^@ NM_000313.3(PROS1):c.503A>G (p.Asn168Ser) http://identifiers.org/clinvar/352176 ^@ NM_005211.3(CSF1R):c.192C>T (p.Gly64=) http://identifiers.org/clinvar/352182 ^@ NM_005211.3(CSF1R):c.-101G>T http://identifiers.org/clinvar/347048 ^@ NM_000253.3(MTTP):c.*55G>C http://identifiers.org/clinvar/346904 ^@ NM_182896.2(ARL13B):c.-157T>C http://identifiers.org/clinvar/346894 ^@ NM_000313.3(PROS1):c.111T>C (p.Val37=) http://identifiers.org/clinvar/346900 ^@ NM_000313.3(PROS1):c.-261C>T http://identifiers.org/clinvar/346912 ^@ NM_182896.2(ARL13B):c.1045A>G (p.Lys349Glu) http://identifiers.org/clinvar/346903 ^@ NM_182896.2(ARL13B):c.-234G>T http://identifiers.org/clinvar/346905 ^@ NM_182896.2(ARL13B):c.-92G>T http://identifiers.org/clinvar/347051 ^@ NM_000253.3(MTTP):c.*183C>T http://identifiers.org/clinvar/347062 ^@ NM_000253.3(MTTP):c.*1046C>G http://identifiers.org/clinvar/352187 ^@ NM_005211.3(CSF1R):c.-249G>A http://identifiers.org/clinvar/352189 ^@ NM_001135243.1(TCOF1):c.-89T>G http://identifiers.org/clinvar/350233 ^@ NM_020041.2(SLC2A9):c.681+13C>T http://identifiers.org/clinvar/350234 ^@ NM_020041.2(SLC2A9):c.666C>T (p.Pro222=) http://identifiers.org/clinvar/350236 ^@ NM_020041.2(SLC2A9):c.504C>T (p.Ile168=) http://identifiers.org/clinvar/346921 ^@ NM_182896.2(ARL13B):c.*609T>G http://identifiers.org/clinvar/352190 ^@ NM_001135243.1(TCOF1):c.-39C>T http://identifiers.org/clinvar/346924 ^@ NM_182896.2(ARL13B):c.*1498T>C http://identifiers.org/clinvar/352192 ^@ NM_001135243.1(TCOF1):c.-19C>T http://identifiers.org/clinvar/352199 ^@ NM_001135243.1(TCOF1):c.1083+12G>A http://identifiers.org/clinvar/350238 ^@ NM_020041.2(SLC2A9):c.354dupC (p.Ile119Hisfs) http://identifiers.org/clinvar/346925 ^@ NM_182896.2(ARL13B):c.*1549T>C http://identifiers.org/clinvar/346909 ^@ NM_182896.2(ARL13B):c.690-10C>T http://identifiers.org/clinvar/350241 ^@ NM_020041.2(SLC2A9):c.250-9T>C http://identifiers.org/clinvar/346926 ^@ NM_182896.2(ARL13B):c.*1562G>A http://identifiers.org/clinvar/352200 ^@ NM_001135243.1(TCOF1):c.1120G>T (p.Ala374Ser) http://identifiers.org/clinvar/352201 ^@ NM_001135243.1(TCOF1):c.1128C>A (p.Ala376=) http://identifiers.org/clinvar/346911 ^@ NM_182896.2(ARL13B):c.1007G>A (p.Arg336Gln) http://identifiers.org/clinvar/346914 ^@ NM_182896.2(ARL13B):c.1270C>T (p.His424Tyr) http://identifiers.org/clinvar/352202 ^@ NM_001135243.1(TCOF1):c.1133C>T (p.Ala378Val) http://identifiers.org/clinvar/352204 ^@ NM_001135243.1(TCOF1):c.1278+14G>A http://identifiers.org/clinvar/352205 ^@ NM_001135243.1(TCOF1):c.1300C>T (p.Pro434Ser) http://identifiers.org/clinvar/346915 ^@ NM_182896.2(ARL13B):c.*2C>T http://identifiers.org/clinvar/346918 ^@ NM_182896.2(ARL13B):c.*201A>G http://identifiers.org/clinvar/350242 ^@ NM_012073.4(CCT5):c.-125A>G http://identifiers.org/clinvar/346929 ^@ NM_182896.2(ARL13B):c.*1670T>C http://identifiers.org/clinvar/352208 ^@ NM_001135243.1(TCOF1):c.1590G>A (p.Gly530=) http://identifiers.org/clinvar/346919 ^@ NM_182896.2(ARL13B):c.*237T>C http://identifiers.org/clinvar/352210 ^@ NM_001135243.1(TCOF1):c.1629G>C (p.Glu543Asp) http://identifiers.org/clinvar/346922 ^@ NM_182896.2(ARL13B):c.*845A>C http://identifiers.org/clinvar/346934 ^@ NM_182896.2(ARL13B):c.*2162G>A http://identifiers.org/clinvar/350243 ^@ NM_012073.4(CCT5):c.-59A>G http://identifiers.org/clinvar/352212 ^@ NM_001135243.1(TCOF1):c.1708A>G (p.Lys570Glu) http://identifiers.org/clinvar/350246 ^@ NM_012073.4(CCT5):c.-10T>C http://identifiers.org/clinvar/352213 ^@ NM_001135243.1(TCOF1):c.1783G>A (p.Val595Ile) http://identifiers.org/clinvar/352228 ^@ NM_001135243.1(TCOF1):c.3510C>T (p.His1170=) http://identifiers.org/clinvar/352229 ^@ NM_001135243.1(TCOF1):c.3617A>G (p.Tyr1206Cys) http://identifiers.org/clinvar/346936 ^@ NM_177976.3(ARL6):c.-299C>T http://identifiers.org/clinvar/346938 ^@ NM_177976.3(ARL6):c.-205T>C http://identifiers.org/clinvar/350253 ^@ NM_012073.4(CCT5):c.878A>T (p.Lys293Ile) http://identifiers.org/clinvar/346945 ^@ NM_177976.3(ARL6):c.*255C>T http://identifiers.org/clinvar/352246 ^@ NM_001135243.1(TCOF1):c.*430C>T http://identifiers.org/clinvar/346941 ^@ NM_177976.3(ARL6):c.-86-12A>T http://identifiers.org/clinvar/352247 ^@ NM_001135243.1(TCOF1):c.*466dupT http://identifiers.org/clinvar/352252 ^@ NM_000405.4(GM2A):c.78A>T (p.Lys26Asn) http://identifiers.org/clinvar/352261 ^@ NM_000405.4(GM2A):c.*245G>A http://identifiers.org/clinvar/346944 ^@ NM_177976.3(ARL6):c.*225G>C http://identifiers.org/clinvar/346950 ^@ NM_000097.5(CPOX):c.*1153G>C http://identifiers.org/clinvar/346970 ^@ NM_000097.5(CPOX):c.*73T>C http://identifiers.org/clinvar/350254 ^@ NM_012073.4(CCT5):c.1059G>A (p.Leu353=) http://identifiers.org/clinvar/346971 ^@ NM_000097.5(CPOX):c.*66G>A http://identifiers.org/clinvar/352268 ^@ NM_000405.4(GM2A):c.*536G>T http://identifiers.org/clinvar/352269 ^@ NM_000405.4(GM2A):c.*568G>A http://identifiers.org/clinvar/346946 ^@ NM_177976.3(ARL6):c.*275G>A http://identifiers.org/clinvar/346947 ^@ NM_177976.3(ARL6):c.*284C>A http://identifiers.org/clinvar/350255 ^@ NM_012073.4(CCT5):c.1070G>A (p.Gly357Asp) http://identifiers.org/clinvar/350256 ^@ NM_012073.4(CCT5):c.1183A>G (p.Ile395Val) http://identifiers.org/clinvar/346979 ^@ NM_000097.5(CPOX):c.814A>C (p.Asn272His) http://identifiers.org/clinvar/346949 ^@ NM_000097.5(CPOX):c.*1174G>A http://identifiers.org/clinvar/346951 ^@ NM_000097.5(CPOX):c.*1105A>G http://identifiers.org/clinvar/352271 ^@ NM_000405.4(GM2A):c.*723dupT http://identifiers.org/clinvar/352273 ^@ NM_000405.4(GM2A):c.*824C>A http://identifiers.org/clinvar/346952 ^@ NM_000097.5(CPOX):c.*1076G>A http://identifiers.org/clinvar/352276 ^@ NM_000405.4(GM2A):c.*938G>A http://identifiers.org/clinvar/346960 ^@ NM_000097.5(CPOX):c.*498_*499insCA http://identifiers.org/clinvar/346981 ^@ NM_000097.5(CPOX):c.612G>A (p.Gly204=) http://identifiers.org/clinvar/350261 ^@ NM_012073.4(CCT5):c.*25A>G http://identifiers.org/clinvar/352277 ^@ NM_000405.4(GM2A):c.*944T>C http://identifiers.org/clinvar/346963 ^@ NM_000097.5(CPOX):c.*340A>G http://identifiers.org/clinvar/350262 ^@ NM_012073.4(CCT5):c.*67A>G http://identifiers.org/clinvar/346983 ^@ NM_000097.5(CPOX):c.487G>T (p.Val163Leu) http://identifiers.org/clinvar/346965 ^@ NM_000097.5(CPOX):c.*227G>A http://identifiers.org/clinvar/352281 ^@ NM_000405.4(GM2A):c.*1274dupC http://identifiers.org/clinvar/346966 ^@ NM_000097.5(CPOX):c.*194G>T http://identifiers.org/clinvar/350264 ^@ NM_012073.4(CCT5):c.*181C>T http://identifiers.org/clinvar/346991 ^@ NM_000097.5(CPOX):c.165C>T (p.Gly55=) http://identifiers.org/clinvar/352283 ^@ NM_000405.4(GM2A):c.*1410A>C http://identifiers.org/clinvar/346993 ^@ NM_000097.5(CPOX):c.130G>T (p.Ala44Ser) http://identifiers.org/clinvar/347001 ^@ NM_000097.5(CPOX):c.-56G>C http://identifiers.org/clinvar/350268 ^@ NM_012073.4(CCT5):c.*345T>C http://identifiers.org/clinvar/352290 ^@ NM_000405.4(GM2A):c.*2113G>A http://identifiers.org/clinvar/350274 ^@ NM_012073.4(CCT5):c.*513G>C http://identifiers.org/clinvar/350277 ^@ NM_012073.4(CCT5):c.*776T>C http://identifiers.org/clinvar/352296 ^@ NM_000405.4(GM2A):c.*2550C>T http://identifiers.org/clinvar/352303 ^@ NM_000405.4(GM2A):c.*2849G>A http://identifiers.org/clinvar/352304 ^@ NM_000171.3(GLRA1):c.1341C>T (p.His447=) http://identifiers.org/clinvar/346967 ^@ NM_000097.5(CPOX):c.*162A>C http://identifiers.org/clinvar/346975 ^@ NM_000097.5(CPOX):c.1108A>G (p.Lys370Glu) http://identifiers.org/clinvar/346977 ^@ NM_000097.5(CPOX):c.990A>G (p.Glu330=) http://identifiers.org/clinvar/350221 ^@ NM_000203.4(IDUA):c.365G>A (p.Arg122Lys) http://identifiers.org/clinvar/346980 ^@ NM_000097.5(CPOX):c.651A>G (p.Glu217=) http://identifiers.org/clinvar/346982 ^@ NM_000097.5(CPOX):c.556+9G>A http://identifiers.org/clinvar/352310 ^@ NM_000171.3(GLRA1):c.1041G>A (p.Arg347=) http://identifiers.org/clinvar/352315 ^@ NM_000171.3(GLRA1):c.559+8T>G http://identifiers.org/clinvar/352318 ^@ NM_000171.3(GLRA1):c.390C>T (p.Asn130=) http://identifiers.org/clinvar/352323 ^@ NM_000171.3(GLRA1):c.23G>C (p.Arg8Pro) http://identifiers.org/clinvar/347003 ^@ NM_020041.2(SLC2A9):c.247C>A (p.Pro83Thr) http://identifiers.org/clinvar/347005 ^@ NM_020041.2(SLC2A9):c.150+9G>A http://identifiers.org/clinvar/350278 ^@ NM_012073.4(CCT5):c.*824C>G http://identifiers.org/clinvar/352328 ^@ NM_000171.3(GLRA1):c.-196C>T http://identifiers.org/clinvar/346985 ^@ NM_000097.5(CPOX):c.348G>C (p.Pro116=) http://identifiers.org/clinvar/352329 ^@ NM_000171.3(GLRA1):c.-271G>C http://identifiers.org/clinvar/352336 ^@ NM_000337.5(SGCD):c.716C>T (p.Ala239Val) http://identifiers.org/clinvar/352343 ^@ NM_000337.5(SGCD):c.*557A>C http://identifiers.org/clinvar/346986 ^@ NM_000097.5(CPOX):c.337C>T (p.Leu113=) http://identifiers.org/clinvar/346992 ^@ NM_000097.5(CPOX):c.156C>G (p.Gly52=) http://identifiers.org/clinvar/346994 ^@ NM_000097.5(CPOX):c.125G>C (p.Ser42Thr) http://identifiers.org/clinvar/347006 ^@ NM_020041.2(SLC2A9):c.73G>A (p.Gly25Arg) http://identifiers.org/clinvar/350227 ^@ NM_000203.4(IDUA):c.1002G>A (p.Leu334=) http://identifiers.org/clinvar/350279 ^@ NM_012073.4(CCT5):c.*841T>C http://identifiers.org/clinvar/346996 ^@ NM_000097.5(CPOX):c.33C>T (p.Gly11=) http://identifiers.org/clinvar/350280 ^@ NM_012073.4(CCT5):c.*866A>C http://identifiers.org/clinvar/350281 ^@ NM_012073.4(CCT5):c.*892_*894delGTGinsTGACATCTTAC http://identifiers.org/clinvar/350284 ^@ NM_012073.4(CCT5):c.*994_*995insATTCT http://identifiers.org/clinvar/350222 ^@ NM_000203.4(IDUA):c.630C>T (p.Arg210=) http://identifiers.org/clinvar/352345 ^@ NM_000337.5(SGCD):c.*753C>T http://identifiers.org/clinvar/352355 ^@ NM_000337.5(SGCD):c.*1719G>A http://identifiers.org/clinvar/347004 ^@ NM_020041.2(SLC2A9):c.198C>G (p.Gly66=) http://identifiers.org/clinvar/347007 ^@ NM_020041.2(SLC2A9):c.72C>T (p.Ala24=) http://identifiers.org/clinvar/347069 ^@ NM_005908.3(MANBA):c.*356G>A http://identifiers.org/clinvar/347072 ^@ NM_005908.3(MANBA):c.*184A>G http://identifiers.org/clinvar/347077 ^@ NM_005908.3(MANBA):c.2482G>A (p.Val828Ile) http://identifiers.org/clinvar/352360 ^@ NM_000337.5(SGCD):c.*2316G>A http://identifiers.org/clinvar/347079 ^@ NM_005908.3(MANBA):c.2438A>T (p.Asp813Val) http://identifiers.org/clinvar/352361 ^@ NM_000337.5(SGCD):c.*2365T>C http://identifiers.org/clinvar/350229 ^@ NM_000203.4(IDUA):c.1174C>T (p.Leu392=) http://identifiers.org/clinvar/347092 ^@ NM_005908.3(MANBA):c.1477G>A (p.Val493Ile) http://identifiers.org/clinvar/347097 ^@ NM_005908.3(MANBA):c.531T>C (p.His177=) http://identifiers.org/clinvar/347103 ^@ NM_001059.2(TACR3):c.*176_*177delAT http://identifiers.org/clinvar/347104 ^@ NM_001059.2(TACR3):c.*73C>T http://identifiers.org/clinvar/352364 ^@ NM_000337.5(SGCD):c.*2712T>C http://identifiers.org/clinvar/352365 ^@ NM_000337.5(SGCD):c.*2813C>A http://identifiers.org/clinvar/347106 ^@ NM_001059.2(TACR3):c.1290G>A (p.Thr430=) http://identifiers.org/clinvar/347108 ^@ NM_001059.2(TACR3):c.1230A>T (p.Thr410=) http://identifiers.org/clinvar/352367 ^@ NM_000337.5(SGCD):c.*3292A>G http://identifiers.org/clinvar/350293 ^@ NM_139281.2(WDR36):c.-114C>A http://identifiers.org/clinvar/352372 ^@ NM_000337.5(SGCD):c.*3650G>T http://identifiers.org/clinvar/352375 ^@ NM_000337.5(SGCD):c.*3772dupA http://identifiers.org/clinvar/352379 ^@ NM_000337.5(SGCD):c.*3898C>T http://identifiers.org/clinvar/352385 ^@ NM_000337.5(SGCD):c.*4166T>C http://identifiers.org/clinvar/350295 ^@ NM_139281.2(WDR36):c.-50C>T http://identifiers.org/clinvar/350296 ^@ NM_139281.2(WDR36):c.51G>A (p.Pro17=) http://identifiers.org/clinvar/350298 ^@ NM_139281.2(WDR36):c.91C>A (p.Pro31Thr) http://identifiers.org/clinvar/350302 ^@ NM_139281.2(WDR36):c.358+12C>G http://identifiers.org/clinvar/350303 ^@ NM_139281.2(WDR36):c.376G>A (p.Asp126Asn) http://identifiers.org/clinvar/350231 ^@ NM_000203.4(IDUA):c.1479C>A (p.Pro493=) http://identifiers.org/clinvar/352389 ^@ NM_000337.5(SGCD):c.*4389G>A http://identifiers.org/clinvar/352391 ^@ NM_000337.5(SGCD):c.*4498G>A http://identifiers.org/clinvar/352399 ^@ NM_000337.5(SGCD):c.*5054G>A http://identifiers.org/clinvar/352404 ^@ NM_000337.5(SGCD):c.*5337G>A http://identifiers.org/clinvar/347065 ^@ NM_005908.3(MANBA):c.*505G>A http://identifiers.org/clinvar/347110 ^@ NM_001059.2(TACR3):c.917T>C (p.Met306Thr) http://identifiers.org/clinvar/352406 ^@ NM_000337.5(SGCD):c.*5467G>C http://identifiers.org/clinvar/352407 ^@ NM_000337.5(SGCD):c.*5591G>A http://identifiers.org/clinvar/347112 ^@ NM_001059.2(TACR3):c.703G>A (p.Val235Met) http://identifiers.org/clinvar/347116 ^@ NM_001059.2(TACR3):c.-20G>C http://identifiers.org/clinvar/347117 ^@ NM_001059.2(TACR3):c.-20G>A http://identifiers.org/clinvar/352409 ^@ NM_000337.5(SGCD):c.*5723delA http://identifiers.org/clinvar/352412 ^@ NM_000337.5(SGCD):c.*5877C>A http://identifiers.org/clinvar/347121 ^@ NM_005327.4(HADH):c.-195A>C http://identifiers.org/clinvar/352413 ^@ NM_000337.5(SGCD):c.*5907T>C http://identifiers.org/clinvar/352419 ^@ NM_000337.5(SGCD):c.*6223T>A http://identifiers.org/clinvar/347073 ^@ NM_005908.3(MANBA):c.*172G>A http://identifiers.org/clinvar/352420 ^@ NM_000337.5(SGCD):c.*6400C>T http://identifiers.org/clinvar/350309 ^@ NM_139281.2(WDR36):c.635A>C (p.His212Pro) http://identifiers.org/clinvar/350311 ^@ NM_139281.2(WDR36):c.712A>G (p.Lys238Glu) http://identifiers.org/clinvar/350318 ^@ NM_139281.2(WDR36):c.1692A>G (p.Lys564=) http://identifiers.org/clinvar/347074 ^@ NM_005908.3(MANBA):c.*161C>T http://identifiers.org/clinvar/352422 ^@ NM_000337.5(SGCD):c.*6497dupT http://identifiers.org/clinvar/347124 ^@ NM_005327.4(HADH):c.-115delG http://identifiers.org/clinvar/350320 ^@ NM_139281.2(WDR36):c.1868G>A (p.Gly623Asp) http://identifiers.org/clinvar/352428 ^@ NM_000337.5(SGCD):c.*6665G>A http://identifiers.org/clinvar/352429 ^@ NM_000337.5(SGCD):c.*6683T>C http://identifiers.org/clinvar/350323 ^@ NM_139281.2(WDR36):c.1885-20_1885-14delTTTTTTTinsATATATATA http://identifiers.org/clinvar/347078 ^@ NM_005908.3(MANBA):c.2473G>A (p.Ala825Thr) http://identifiers.org/clinvar/350327 ^@ NM_139281.2(WDR36):c.1967T>G (p.Leu656Arg) http://identifiers.org/clinvar/352433 ^@ NM_000337.5(SGCD):c.*6917C>T http://identifiers.org/clinvar/347080 ^@ NM_005908.3(MANBA):c.2389G>A (p.Val797Met) http://identifiers.org/clinvar/347125 ^@ NM_005327.4(HADH):c.-102G>A http://identifiers.org/clinvar/347090 ^@ NM_005908.3(MANBA):c.1522A>G (p.Thr508Ala) http://identifiers.org/clinvar/347091 ^@ NM_005908.3(MANBA):c.1482G>T (p.Leu494=) http://identifiers.org/clinvar/347096 ^@ NM_005908.3(MANBA):c.757G>A (p.Val253Ile) http://identifiers.org/clinvar/347137 ^@ NM_005327.4(HADH):c.*109T>A http://identifiers.org/clinvar/347111 ^@ NM_001059.2(TACR3):c.737C>T (p.Thr246Ile) http://identifiers.org/clinvar/352434 ^@ NM_000337.5(SGCD):c.*7196A>T http://identifiers.org/clinvar/352436 ^@ NM_000337.5(SGCD):c.*7231A>T http://identifiers.org/clinvar/347114 ^@ NM_001059.2(TACR3):c.114G>T (p.Glu38Asp) http://identifiers.org/clinvar/347115 ^@ NM_001059.2(TACR3):c.-10A>T http://identifiers.org/clinvar/350332 ^@ NM_139281.2(WDR36):c.2142C>G (p.Val714=) http://identifiers.org/clinvar/352438 ^@ NM_000337.5(SGCD):c.*7300C>A http://identifiers.org/clinvar/352439 ^@ NM_000337.5(SGCD):c.*7489G>A http://identifiers.org/clinvar/350333 ^@ NM_139281.2(WDR36):c.2232A>G (p.Pro744=) http://identifiers.org/clinvar/350336 ^@ NM_139281.2(WDR36):c.2706+8_2706+11dupTAAT http://identifiers.org/clinvar/350339 ^@ NM_139281.2(WDR36):c.*83A>T http://identifiers.org/clinvar/352442 ^@ NM_000337.5(SGCD):c.*7521G>A http://identifiers.org/clinvar/347146 ^@ NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) http://identifiers.org/clinvar/350350 ^@ NM_139281.2(WDR36):c.*500G>T http://identifiers.org/clinvar/350351 ^@ NM_139281.2(WDR36):c.*502C>T http://identifiers.org/clinvar/347122 ^@ NM_005327.4(HADH):c.-195A>G http://identifiers.org/clinvar/347127 ^@ NM_005327.4(HADH):c.-65G>A http://identifiers.org/clinvar/350354 ^@ NM_139281.2(WDR36):c.*871T>C http://identifiers.org/clinvar/350359 ^@ NM_139281.2(WDR36):c.*1040_*1050delGTTTTTTTTTT http://identifiers.org/clinvar/347132 ^@ NM_005327.4(HADH):c.72G>A (p.Lys24=) http://identifiers.org/clinvar/347150 ^@ NM_000204.4(CFI):c.1443C>T (p.Val481=) http://identifiers.org/clinvar/350365 ^@ NM_139281.2(WDR36):c.*1104G>A http://identifiers.org/clinvar/352446 ^@ NM_000337.5(SGCD):c.*7815G>A http://identifiers.org/clinvar/352450 ^@ NM_000337.5(SGCD):c.*8114dupA http://identifiers.org/clinvar/347155 ^@ NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) http://identifiers.org/clinvar/347135 ^@ NM_005327.4(HADH):c.889G>A (p.Val297Ile) http://identifiers.org/clinvar/347136 ^@ NM_005327.4(HADH):c.*59G>A http://identifiers.org/clinvar/350367 ^@ NM_139281.2(WDR36):c.*1131T>C http://identifiers.org/clinvar/352453 ^@ NM_000337.5(SGCD):c.*8355C>T http://identifiers.org/clinvar/350369 ^@ NM_139281.2(WDR36):c.*1340G>A http://identifiers.org/clinvar/347142 ^@ NM_000204.4(CFI):c.*144T>C http://identifiers.org/clinvar/352458 ^@ NM_005546.3(ITK):c.237G>A (p.Pro79=) http://identifiers.org/clinvar/352459 ^@ NM_005546.3(ITK):c.244-8G>A http://identifiers.org/clinvar/352461 ^@ NM_005546.3(ITK):c.495+12C>T http://identifiers.org/clinvar/350371 ^@ NM_139281.2(WDR36):c.*1434T>C http://identifiers.org/clinvar/347156 ^@ NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) http://identifiers.org/clinvar/347149 ^@ NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) http://identifiers.org/clinvar/347157 ^@ NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) http://identifiers.org/clinvar/347152 ^@ NM_000204.4(CFI):c.1429+5A>G http://identifiers.org/clinvar/347159 ^@ NM_000204.4(CFI):c.1206C>T (p.Pro402=) http://identifiers.org/clinvar/352463 ^@ NM_005546.3(ITK):c.571G>A (p.Ala191Thr) http://identifiers.org/clinvar/347158 ^@ NM_000204.4(CFI):c.1217G>A (p.Arg406His) http://identifiers.org/clinvar/352465 ^@ NM_005546.3(ITK):c.625_627delTGG (p.Trp209del) http://identifiers.org/clinvar/352466 ^@ NM_005546.3(ITK):c.769-13C>T http://identifiers.org/clinvar/352470 ^@ NM_005546.3(ITK):c.1060G>A (p.Gly354Arg) http://identifiers.org/clinvar/347160 ^@ NM_000204.4(CFI):c.1112G>T (p.Gly371Val) http://identifiers.org/clinvar/347163 ^@ NM_000204.4(CFI):c.916A>G (p.Ile306Val) http://identifiers.org/clinvar/347164 ^@ NM_000204.4(CFI):c.905-3T>C http://identifiers.org/clinvar/347172 ^@ NM_000204.4(CFI):c.405T>C (p.Asp135=) http://identifiers.org/clinvar/347165 ^@ NM_000204.4(CFI):c.884-7T>C http://identifiers.org/clinvar/350374 ^@ NM_139281.2(WDR36):c.*1559G>C http://identifiers.org/clinvar/350380 ^@ NM_139281.2(WDR36):c.*1836T>C http://identifiers.org/clinvar/350381 ^@ NM_139281.2(WDR36):c.*1918A>G http://identifiers.org/clinvar/347174 ^@ NM_000204.4(CFI):c.315A>T (p.Thr105=) http://identifiers.org/clinvar/352471 ^@ NM_005546.3(ITK):c.1060+12A>C http://identifiers.org/clinvar/347170 ^@ NM_000204.4(CFI):c.482+14T>A http://identifiers.org/clinvar/352472 ^@ NM_005546.3(ITK):c.1119A>G (p.Gln373=) http://identifiers.org/clinvar/352473 ^@ NM_005546.3(ITK):c.1276C>T (p.Leu426=) http://identifiers.org/clinvar/347171 ^@ NM_000204.4(CFI):c.482+6C>T http://identifiers.org/clinvar/352476 ^@ NM_005546.3(ITK):c.1741C>T (p.Arg581Trp) http://identifiers.org/clinvar/347175 ^@ NM_000204.4(CFI):c.309C>T (p.Asn103=) http://identifiers.org/clinvar/352479 ^@ NM_005546.3(ITK):c.*140C>T http://identifiers.org/clinvar/347180 ^@ NM_198506.4(LRIT3):c.30C>A (p.Val10=) http://identifiers.org/clinvar/347186 ^@ NM_198506.4(LRIT3):c.1029G>T (p.Val343=) http://identifiers.org/clinvar/350386 ^@ NM_139281.2(WDR36):c.*2340C>G http://identifiers.org/clinvar/350388 ^@ NM_139281.2(WDR36):c.*2585C>A http://identifiers.org/clinvar/352485 ^@ NM_005546.3(ITK):c.*804T>C http://identifiers.org/clinvar/347190 ^@ NM_198506.4(LRIT3):c.1307T>C (p.Met436Thr) http://identifiers.org/clinvar/352488 ^@ NM_005546.3(ITK):c.*997A>G http://identifiers.org/clinvar/347192 ^@ NM_198506.4(LRIT3):c.1317G>A (p.Lys439=) http://identifiers.org/clinvar/347193 ^@ NM_198506.4(LRIT3):c.1445A>C (p.Glu482Ala) http://identifiers.org/clinvar/347197 ^@ NM_198506.4(LRIT3):c.1548T>C (p.Thr516=) http://identifiers.org/clinvar/347205 ^@ NM_198506.4(LRIT3):c.*683G>A http://identifiers.org/clinvar/352490 ^@ NM_005546.3(ITK):c.*1171G>C http://identifiers.org/clinvar/347207 ^@ NM_198506.4(LRIT3):c.*854C>T http://identifiers.org/clinvar/347181 ^@ NM_198506.4(LRIT3):c.168C>T (p.Pro56=) http://identifiers.org/clinvar/352491 ^@ NM_005546.3(ITK):c.*1188A>G http://identifiers.org/clinvar/347191 ^@ NM_198506.4(LRIT3):c.1314C>A (p.Asn438Lys) http://identifiers.org/clinvar/347194 ^@ NM_198506.4(LRIT3):c.1455C>T (p.Ala485=) http://identifiers.org/clinvar/347195 ^@ NM_198506.4(LRIT3):c.1456G>A (p.Ala486Thr) http://identifiers.org/clinvar/350392 ^@ NM_139281.2(WDR36):c.*2644A>G http://identifiers.org/clinvar/350391 ^@ NM_139281.2(WDR36):c.*2644delA http://identifiers.org/clinvar/347213 ^@ NM_198506.4(LRIT3):c.*1194T>A http://identifiers.org/clinvar/352500 ^@ NM_005546.3(ITK):c.*1866C>T http://identifiers.org/clinvar/352501 ^@ NM_005546.3(ITK):c.*1928G>A http://identifiers.org/clinvar/347216 ^@ NM_198506.4(LRIT3):c.*1391delC http://identifiers.org/clinvar/347220 ^@ NM_001963.5(EGF):c.-265G>T http://identifiers.org/clinvar/347221 ^@ NM_001963.5(EGF):c.-140A>G http://identifiers.org/clinvar/352511 ^@ NM_001099287.1(NIPAL4):c.492T>C (p.Asp164=) http://identifiers.org/clinvar/347223 ^@ NM_001963.5(EGF):c.-102G>A http://identifiers.org/clinvar/352518 ^@ NM_001099287.1(NIPAL4):c.969C>A (p.His323Gln) http://identifiers.org/clinvar/352520 ^@ NM_001099287.1(NIPAL4):c.1058C>T (p.Thr353Ile) http://identifiers.org/clinvar/347229 ^@ NM_001963.5(EGF):c.769G>C (p.Asp257His) http://identifiers.org/clinvar/352521 ^@ NM_001099287.1(NIPAL4):c.1105G>A (p.Val369Ile) http://identifiers.org/clinvar/352529 ^@ NM_001099287.1(NIPAL4):c.*388_*390delCCT http://identifiers.org/clinvar/347200 ^@ NM_198506.4(LRIT3):c.*103A>G http://identifiers.org/clinvar/352530 ^@ NM_001099287.1(NIPAL4):c.*423_*425dupGTT http://identifiers.org/clinvar/350397 ^@ NM_139281.2(WDR36):c.*2883A>T http://identifiers.org/clinvar/350401 ^@ NM_139281.2(WDR36):c.*3125C>G http://identifiers.org/clinvar/352539 ^@ NM_001099287.1(NIPAL4):c.*992C>A http://identifiers.org/clinvar/350406 ^@ NM_139281.2(WDR36):c.*3592_*3593dupAT http://identifiers.org/clinvar/350410 ^@ NM_000038.5(APC):c.1958+10G>T http://identifiers.org/clinvar/350425 ^@ NM_000038.5(APC):c.8425G>A (p.Val2809Met) http://identifiers.org/clinvar/347203 ^@ NM_198506.4(LRIT3):c.*498G>C http://identifiers.org/clinvar/347208 ^@ NM_198506.4(LRIT3):c.*962A>G http://identifiers.org/clinvar/347234 ^@ NM_001963.5(EGF):c.1292G>A (p.Arg431Lys) http://identifiers.org/clinvar/350428 ^@ NM_000038.5(APC):c.*266C>A http://identifiers.org/clinvar/347218 ^@ NM_001963.5(EGF):c.-447G>A http://identifiers.org/clinvar/350429 ^@ NM_000038.5(APC):c.*404_*405insA http://identifiers.org/clinvar/352540 ^@ NM_001099287.1(NIPAL4):c.*1069A>C http://identifiers.org/clinvar/352545 ^@ NM_001099287.1(NIPAL4):c.*1394A>G http://identifiers.org/clinvar/350431 ^@ NM_000038.5(APC):c.*505C>A http://identifiers.org/clinvar/350433 ^@ NM_000038.5(APC):c.*574T>C http://identifiers.org/clinvar/350438 ^@ NM_000038.5(APC):c.*928_*929delTT http://identifiers.org/clinvar/347238 ^@ NM_001963.5(EGF):c.1723G>A (p.Gly575Arg) http://identifiers.org/clinvar/352547 ^@ NM_001099287.1(NIPAL4):c.*1603A>C http://identifiers.org/clinvar/352549 ^@ NM_001099287.1(NIPAL4):c.*1679C>T http://identifiers.org/clinvar/350439 ^@ NM_000038.5(APC):c.*1050T>C http://identifiers.org/clinvar/352550 ^@ NM_001099287.1(NIPAL4):c.*1706C>A http://identifiers.org/clinvar/350444 ^@ NM_000038.5(APC):c.*1294A>G http://identifiers.org/clinvar/350445 ^@ NM_000038.5(APC):c.*1304G>A http://identifiers.org/clinvar/350452 ^@ NM_000038.5(APC):c.*1937G>T http://identifiers.org/clinvar/347224 ^@ NM_001963.5(EGF):c.46A>C (p.Ser16Arg) http://identifiers.org/clinvar/352556 ^@ NM_002187.2(IL12B):c.*1016T>A http://identifiers.org/clinvar/352562 ^@ NM_002187.2(IL12B):c.*746C>T http://identifiers.org/clinvar/347226 ^@ NM_001963.5(EGF):c.264C>T (p.Ile88=) http://identifiers.org/clinvar/347227 ^@ NM_001963.5(EGF):c.451C>T (p.His151Tyr) http://identifiers.org/clinvar/352565 ^@ NM_002187.2(IL12B):c.*486A>G http://identifiers.org/clinvar/352567 ^@ NM_002187.2(IL12B):c.*230C>T http://identifiers.org/clinvar/352571 ^@ NM_002187.2(IL12B):c.960C>T (p.Ser320=) http://identifiers.org/clinvar/347232 ^@ NM_001963.5(EGF):c.1095T>C (p.His365=) http://identifiers.org/clinvar/347243 ^@ NM_001963.5(EGF):c.2088T>C (p.Tyr696=) http://identifiers.org/clinvar/347250 ^@ NM_001963.5(EGF):c.2742T>C (p.Asp914=) http://identifiers.org/clinvar/350461 ^@ NM_000414.3(HSD17B4):c.268T>C (p.Phe90Leu) http://identifiers.org/clinvar/347253 ^@ NM_001963.5(EGF):c.2858-11G>T http://identifiers.org/clinvar/347255 ^@ NM_001963.5(EGF):c.3110C>T (p.Ala1037Val) http://identifiers.org/clinvar/350463 ^@ NM_000414.3(HSD17B4):c.811G>A (p.Ala271Thr) http://identifiers.org/clinvar/350464 ^@ NM_000414.3(HSD17B4):c.943C>T (p.Arg315Cys) http://identifiers.org/clinvar/350475 ^@ NM_000414.3(HSD17B4):c.*250dupA http://identifiers.org/clinvar/350479 ^@ NM_005460.3(SNCAIP):c.-49C>G http://identifiers.org/clinvar/347256 ^@ NM_001963.5(EGF):c.3162C>G (p.Ala1054=) http://identifiers.org/clinvar/352576 ^@ NM_002187.2(IL12B):c.483-8G>C http://identifiers.org/clinvar/350484 ^@ NM_005460.3(SNCAIP):c.429G>A (p.Leu143=) http://identifiers.org/clinvar/350486 ^@ NM_005460.3(SNCAIP):c.608A>G (p.Asn203Ser) http://identifiers.org/clinvar/347261 ^@ NM_001963.5(EGF):c.3530G>C (p.Gly1177Ala) http://identifiers.org/clinvar/352582 ^@ NM_000806.5(GABRA1):c.-448G>A http://identifiers.org/clinvar/352592 ^@ NM_000806.5(GABRA1):c.-142A>G http://identifiers.org/clinvar/352597 ^@ NM_000806.5(GABRA1):c.672A>G (p.Thr224=) http://identifiers.org/clinvar/347262 ^@ NM_001963.5(EGF):c.*18A>G http://identifiers.org/clinvar/352598 ^@ NM_000806.5(GABRA1):c.856+11A>G http://identifiers.org/clinvar/352600 ^@ NM_000806.5(GABRA1):c.1206C>T (p.Pro402=) http://identifiers.org/clinvar/347246 ^@ NM_001963.5(EGF):c.2351A>T (p.Asp784Val) http://identifiers.org/clinvar/352602 ^@ NM_000806.5(GABRA1):c.*213C>T http://identifiers.org/clinvar/352606 ^@ NM_000806.5(GABRA1):c.*401G>A http://identifiers.org/clinvar/347265 ^@ NM_001963.5(EGF):c.*157G>A http://identifiers.org/clinvar/347267 ^@ NM_001963.5(EGF):c.*201A>C http://identifiers.org/clinvar/347269 ^@ NM_001963.5(EGF):c.*393T>C http://identifiers.org/clinvar/347247 ^@ NM_001963.5(EGF):c.2433G>A (p.Val811=) http://identifiers.org/clinvar/352609 ^@ NM_000806.5(GABRA1):c.*771C>T http://identifiers.org/clinvar/347248 ^@ NM_001963.5(EGF):c.2525T>C (p.Met842Thr) http://identifiers.org/clinvar/352610 ^@ NM_000806.5(GABRA1):c.*1061T>C http://identifiers.org/clinvar/352611 ^@ NM_000806.5(GABRA1):c.*1319A>G http://identifiers.org/clinvar/352612 ^@ NM_000806.5(GABRA1):c.*1381T>C http://identifiers.org/clinvar/347260 ^@ NM_001963.5(EGF):c.3521C>A (p.Thr1174Asn) http://identifiers.org/clinvar/347270 ^@ NM_001963.5(EGF):c.*411A>G http://identifiers.org/clinvar/350491 ^@ NM_005460.3(SNCAIP):c.708C>T (p.Thr236=) http://identifiers.org/clinvar/347271 ^@ NM_001963.5(EGF):c.*446C>T http://identifiers.org/clinvar/352616 ^@ NM_000806.5(GABRA1):c.*1526A>G http://identifiers.org/clinvar/347280 ^@ NM_001963.5(EGF):c.*1001C>G http://identifiers.org/clinvar/352623 ^@ NM_000806.5(GABRA1):c.*1971T>C http://identifiers.org/clinvar/350499 ^@ NM_005460.3(SNCAIP):c.2131A>G (p.Met711Val) http://identifiers.org/clinvar/350506 ^@ NM_005460.3(SNCAIP):c.*70C>G http://identifiers.org/clinvar/347286 ^@ NM_001963.5(EGF):c.*1283C>T http://identifiers.org/clinvar/352626 ^@ NM_000806.5(GABRA1):c.*2523A>C http://identifiers.org/clinvar/347295 ^@ NM_153427.2(PITX2):c.*264A>C http://identifiers.org/clinvar/347299 ^@ NM_153427.2(PITX2):c.253-11delA http://identifiers.org/clinvar/352632 ^@ NM_000816.3(GABRG2):c.-179T>A http://identifiers.org/clinvar/347277 ^@ NM_001963.5(EGF):c.*926delT http://identifiers.org/clinvar/347288 ^@ NM_153427.2(PITX2):c.*611A>G http://identifiers.org/clinvar/352638 ^@ NM_000816.3(GABRG2):c.24C>A (p.Ser8Arg) http://identifiers.org/clinvar/347290 ^@ NM_153427.2(PITX2):c.*522T>C http://identifiers.org/clinvar/347302 ^@ NM_001148.4(ANK2):c.198C>T (p.Asn66=) http://identifiers.org/clinvar/347291 ^@ NM_153427.2(PITX2):c.*471G>A http://identifiers.org/clinvar/347296 ^@ NM_153427.2(PITX2):c.*176A>T http://identifiers.org/clinvar/350509 ^@ NM_005460.3(SNCAIP):c.*202A>T http://identifiers.org/clinvar/350516 ^@ NM_198253.2(TERT):c.*63C>T http://identifiers.org/clinvar/347297 ^@ NM_153427.2(PITX2):c.*119T>A http://identifiers.org/clinvar/347298 ^@ NM_153427.2(PITX2):c.703C>T (p.Leu235=) http://identifiers.org/clinvar/350519 ^@ NM_001182.4(ALDH7A1):c.*3124A>G http://identifiers.org/clinvar/350524 ^@ NM_001182.4(ALDH7A1):c.*2818T>C http://identifiers.org/clinvar/347300 ^@ NM_153427.2(PITX2):c.65A>C (p.Gln22Pro) http://identifiers.org/clinvar/347301 ^@ NM_001148.4(ANK2):c.56G>A (p.Ser19Asn) http://identifiers.org/clinvar/352650 ^@ NM_000816.3(GABRG2):c.*261G>A http://identifiers.org/clinvar/352653 ^@ NM_000816.3(GABRG2):c.*422C>T http://identifiers.org/clinvar/350528 ^@ NM_001182.4(ALDH7A1):c.*2568_*2569dupGC http://identifiers.org/clinvar/352657 ^@ NM_000816.3(GABRG2):c.*794A>G http://identifiers.org/clinvar/352659 ^@ NM_000816.3(GABRG2):c.*1320G>A http://identifiers.org/clinvar/352664 ^@ NM_000816.3(GABRG2):c.*1518A>G http://identifiers.org/clinvar/347310 ^@ NM_001148.4(ANK2):c.1881+12A>C http://identifiers.org/clinvar/347312 ^@ NM_001148.4(ANK2):c.2178+4A>G http://identifiers.org/clinvar/347315 ^@ NM_001148.4(ANK2):c.2281G>A (p.Gly761Ser) http://identifiers.org/clinvar/347311 ^@ NM_001148.4(ANK2):c.1896G>A (p.Pro632=) http://identifiers.org/clinvar/352666 ^@ NM_000816.3(GABRG2):c.*1763A>T http://identifiers.org/clinvar/352671 ^@ NM_000816.3(GABRG2):c.*2120_*2121delAT http://identifiers.org/clinvar/352676 ^@ NM_001034850.2(RETREG1):c.*913G>T http://identifiers.org/clinvar/347313 ^@ NM_001148.4(ANK2):c.2190A>T (p.Thr730=) http://identifiers.org/clinvar/352678 ^@ NM_001034850.2(RETREG1):c.*592G>A http://identifiers.org/clinvar/352688 ^@ NM_001034850.2(RETREG1):c.953C>T (p.Thr318Ile) http://identifiers.org/clinvar/352689 ^@ NM_001034850.2(RETREG1):c.816C>T (p.Asp272=) http://identifiers.org/clinvar/352692 ^@ NM_001034850.2(RETREG1):c.723A>G (p.Lys241=) http://identifiers.org/clinvar/347317 ^@ NM_001148.4(ANK2):c.3270G>A (p.Lys1090=) http://identifiers.org/clinvar/347332 ^@ NM_001148.4(ANK2):c.7579C>T (p.Leu2527Phe) http://identifiers.org/clinvar/347314 ^@ NM_001148.4(ANK2):c.2278-11G>A http://identifiers.org/clinvar/347321 ^@ NM_001148.4(ANK2):c.4123-13T>C http://identifiers.org/clinvar/347337 ^@ NM_001148.4(ANK2):c.8759A>G (p.Tyr2920Cys) http://identifiers.org/clinvar/352693 ^@ NM_001034850.2(RETREG1):c.442A>G (p.Arg148Gly) http://identifiers.org/clinvar/347324 ^@ NM_001148.4(ANK2):c.5039A>G (p.Lys1680Arg) http://identifiers.org/clinvar/352694 ^@ NM_001034850.2(RETREG1):c.438G>A (p.Leu146=) http://identifiers.org/clinvar/352698 ^@ NM_001034850.2(RETREG1):c.6G>C (p.Ala2=) http://identifiers.org/clinvar/350535 ^@ NM_001182.4(ALDH7A1):c.*2409A>C http://identifiers.org/clinvar/347340 ^@ NM_001148.4(ANK2):c.9679A>C (p.Thr3227Pro) http://identifiers.org/clinvar/347341 ^@ NM_001148.4(ANK2):c.9939C>T (p.Thr3313=) http://identifiers.org/clinvar/347346 ^@ NM_001148.4(ANK2):c.11032+11G>T http://identifiers.org/clinvar/352703 ^@ NM_012188.4(FOXI1):c.308G>C (p.Gly103Ala) http://identifiers.org/clinvar/352711 ^@ NM_012188.4(FOXI1):c.1013C>T (p.Ala338Val) http://identifiers.org/clinvar/347325 ^@ NM_001148.4(ANK2):c.5329G>C (p.Val1777Leu) http://identifiers.org/clinvar/347329 ^@ NM_001148.4(ANK2):c.6547A>G (p.Met2183Val) http://identifiers.org/clinvar/352714 ^@ NM_012188.4(FOXI1):c.*176G>T http://identifiers.org/clinvar/347330 ^@ NM_001148.4(ANK2):c.7525C>T (p.Leu2509=) http://identifiers.org/clinvar/352722 ^@ NM_012188.4(FOXI1):c.*938dupT http://identifiers.org/clinvar/352727 ^@ NM_001017995.2(SH3PXD2B):c.*4827T>A http://identifiers.org/clinvar/347334 ^@ NM_001148.4(ANK2):c.8286A>G (p.Leu2762=) http://identifiers.org/clinvar/347336 ^@ NM_001148.4(ANK2):c.8417T>C (p.Val2806Ala) http://identifiers.org/clinvar/347342 ^@ NM_001148.4(ANK2):c.10254A>C (p.Arg3418Ser) http://identifiers.org/clinvar/347353 ^@ NM_001148.4(ANK2):c.*108G>A http://identifiers.org/clinvar/347367 ^@ NM_001148.4(ANK2):c.*2010G>T http://identifiers.org/clinvar/347343 ^@ NM_001148.4(ANK2):c.10278A>G (p.Leu3426=) http://identifiers.org/clinvar/347344 ^@ NM_001148.4(ANK2):c.10531C>T (p.Leu3511=) http://identifiers.org/clinvar/350537 ^@ NM_001182.4(ALDH7A1):c.*2365C>T http://identifiers.org/clinvar/347370 ^@ NM_003619.3(PRSS12):c.*1699T>C http://identifiers.org/clinvar/347350 ^@ NM_001148.4(ANK2):c.11725T>C (p.Ser3909Pro) http://identifiers.org/clinvar/352739 ^@ NM_001017995.2(SH3PXD2B):c.*3936G>A http://identifiers.org/clinvar/352740 ^@ NM_001017995.2(SH3PXD2B):c.*3935C>T http://identifiers.org/clinvar/352744 ^@ NM_001017995.2(SH3PXD2B):c.*3363T>C http://identifiers.org/clinvar/347351 ^@ NM_001148.4(ANK2):c.*47C>T http://identifiers.org/clinvar/352745 ^@ NM_001017995.2(SH3PXD2B):c.*3359C>T http://identifiers.org/clinvar/352748 ^@ NM_001017995.2(SH3PXD2B):c.*3202C>T http://identifiers.org/clinvar/347372 ^@ NM_003619.3(PRSS12):c.*1615C>T http://identifiers.org/clinvar/350538 ^@ NM_001182.4(ALDH7A1):c.*2314T>C http://identifiers.org/clinvar/352753 ^@ NM_001017995.2(SH3PXD2B):c.*2930dupG http://identifiers.org/clinvar/352757 ^@ NM_001017995.2(SH3PXD2B):c.*2676G>A http://identifiers.org/clinvar/347373 ^@ NM_003619.3(PRSS12):c.*1558_*1559delAA http://identifiers.org/clinvar/352758 ^@ NM_001017995.2(SH3PXD2B):c.*2596A>G http://identifiers.org/clinvar/352767 ^@ NM_001017995.2(SH3PXD2B):c.*1750T>C http://identifiers.org/clinvar/347358 ^@ NM_001148.4(ANK2):c.*908A>G http://identifiers.org/clinvar/352769 ^@ NM_001017995.2(SH3PXD2B):c.*1607A>G http://identifiers.org/clinvar/352774 ^@ NM_001017995.2(SH3PXD2B):c.*1271_*1272insG http://identifiers.org/clinvar/347378 ^@ NM_003619.3(PRSS12):c.*807G>A http://identifiers.org/clinvar/350543 ^@ NM_001182.4(ALDH7A1):c.*1804C>T http://identifiers.org/clinvar/357115 ^@ NM_001024630.3(RUNX2):c.*1534T>C http://identifiers.org/clinvar/357259 ^@ NM_000255.3(MUT):c.1515T>C (p.Ile505=) http://identifiers.org/clinvar/357260 ^@ NM_000255.3(MUT):c.1333-8C>T http://identifiers.org/clinvar/357124 ^@ NM_001024630.3(RUNX2):c.*2318A>T http://identifiers.org/clinvar/361929 ^@ NM_003235.4(TG):c.2737T>C (p.Ser913Pro) http://identifiers.org/clinvar/357126 ^@ NM_001024630.3(RUNX2):c.*2435T>C http://identifiers.org/clinvar/357131 ^@ NM_001024630.3(RUNX2):c.*2697_*2700delCTTT http://identifiers.org/clinvar/366293 ^@ NM_002451.3(MTAP):c.*2348dupT http://identifiers.org/clinvar/366295 ^@ NM_002451.3(MTAP):c.*2383C>T http://identifiers.org/clinvar/366312 ^@ NM_002451.3(MTAP):c.*3389T>C http://identifiers.org/clinvar/366317 ^@ NM_002451.3(MTAP):c.*3916C>T http://identifiers.org/clinvar/357263 ^@ NM_000255.3(MUT):c.41A>T (p.His14Leu) http://identifiers.org/clinvar/357264 ^@ NM_000255.3(MUT):c.-78C>A http://identifiers.org/clinvar/357271 ^@ NM_003221.3(TFAP2B):c.-34G>A http://identifiers.org/clinvar/366320 ^@ NM_003070.4(SMARCA2):c.4595-7G>C http://identifiers.org/clinvar/361932 ^@ NM_003235.4(TG):c.2762-4C>T http://identifiers.org/clinvar/366322 ^@ NM_003070.4(SMARCA2):c.4699G>C (p.Val1567Leu) http://identifiers.org/clinvar/366334 ^@ NM_003070.4(SMARCA2):c.*197A>G http://identifiers.org/clinvar/357134 ^@ NM_001024630.3(RUNX2):c.*2786A>G http://identifiers.org/clinvar/366336 ^@ NM_003070.4(SMARCA2):c.*355dupT http://identifiers.org/clinvar/366337 ^@ NM_003070.4(SMARCA2):c.*431G>A http://identifiers.org/clinvar/361934 ^@ NM_003235.4(TG):c.2977G>A (p.Ala993Thr) http://identifiers.org/clinvar/366343 ^@ NM_003070.4(SMARCA2):c.*726T>C http://identifiers.org/clinvar/366345 ^@ NM_003383.4(VLDLR):c.-335C>T http://identifiers.org/clinvar/366346 ^@ NM_003383.4(VLDLR):c.-167dupG http://identifiers.org/clinvar/357273 ^@ NM_003221.3(TFAP2B):c.252C>T (p.Asp84=) http://identifiers.org/clinvar/357274 ^@ NM_003221.3(TFAP2B):c.360T>C (p.Ser120=) http://identifiers.org/clinvar/361939 ^@ NM_003235.4(TG):c.3129C>T (p.His1043=) http://identifiers.org/clinvar/357135 ^@ NM_001024630.3(RUNX2):c.*2826G>A http://identifiers.org/clinvar/366350 ^@ NM_003383.4(VLDLR):c.-113C>G http://identifiers.org/clinvar/357145 ^@ NM_001024630.3(RUNX2):c.*3592A>G http://identifiers.org/clinvar/366353 ^@ NM_003383.4(VLDLR):c.-56_-54delCGT http://identifiers.org/clinvar/357151 ^@ NM_012120.2(CD2AP):c.-438C>T http://identifiers.org/clinvar/366357 ^@ NM_003383.4(VLDLR):c.-25_-24insATCCAG http://identifiers.org/clinvar/366364 ^@ NM_003383.4(VLDLR):c.692G>A (p.Arg231His) http://identifiers.org/clinvar/357281 ^@ NM_003221.3(TFAP2B):c.1006G>A (p.Val336Ile) http://identifiers.org/clinvar/357152 ^@ NM_012120.2(CD2AP):c.-329C>T http://identifiers.org/clinvar/361945 ^@ NM_003235.4(TG):c.3397G>A (p.Glu1133Lys) http://identifiers.org/clinvar/361947 ^@ NM_003235.4(TG):c.3647C>T (p.Pro1216Leu) http://identifiers.org/clinvar/361951 ^@ NM_003235.4(TG):c.3912G>A (p.Lys1304=) http://identifiers.org/clinvar/366365 ^@ NM_003383.4(VLDLR):c.862G>T (p.Gly288Cys) http://identifiers.org/clinvar/357160 ^@ NM_012120.2(CD2AP):c.-130C>G http://identifiers.org/clinvar/361957 ^@ NM_003235.4(TG):c.4193G>A (p.Arg1398His) http://identifiers.org/clinvar/361959 ^@ NM_003235.4(TG):c.4365C>T (p.Asp1455=) http://identifiers.org/clinvar/357283 ^@ NM_003221.3(TFAP2B):c.1159C>T (p.Leu387=) http://identifiers.org/clinvar/366367 ^@ NM_003383.4(VLDLR):c.943+10delT http://identifiers.org/clinvar/366370 ^@ NM_003383.4(VLDLR):c.1755A>C (p.Gly585=) http://identifiers.org/clinvar/357285 ^@ NM_003221.3(TFAP2B):c.1267G>C (p.Glu423Gln) http://identifiers.org/clinvar/366371 ^@ NM_003383.4(VLDLR):c.1791G>A (p.Ala597=) http://identifiers.org/clinvar/366372 ^@ NM_003383.4(VLDLR):c.1966C>T (p.Arg656Cys) http://identifiers.org/clinvar/357162 ^@ NM_012120.2(CD2AP):c.-54T>A http://identifiers.org/clinvar/366375 ^@ NM_003383.4(VLDLR):c.*16T>C http://identifiers.org/clinvar/366377 ^@ NM_003383.4(VLDLR):c.*63C>T http://identifiers.org/clinvar/361961 ^@ NM_003235.4(TG):c.4443C>T (p.Tyr1481=) http://identifiers.org/clinvar/361962 ^@ NM_003235.4(TG):c.4481C>T (p.Pro1494Leu) http://identifiers.org/clinvar/357170 ^@ NM_012120.2(CD2AP):c.682C>T (p.Arg228Trp) http://identifiers.org/clinvar/366383 ^@ NM_003383.4(VLDLR):c.*551T>C http://identifiers.org/clinvar/357177 ^@ NM_012120.2(CD2AP):c.1633-6T>A http://identifiers.org/clinvar/357180 ^@ NM_012120.2(CD2AP):c.*20C>G http://identifiers.org/clinvar/357184 ^@ NM_012120.2(CD2AP):c.*451_*452insGT http://identifiers.org/clinvar/357189 ^@ NM_012120.2(CD2AP):c.*452C>G http://identifiers.org/clinvar/357185 ^@ NM_012120.2(CD2AP):c.*452_*455delCTGT http://identifiers.org/clinvar/357288 ^@ NM_003221.3(TFAP2B):c.*60T>A http://identifiers.org/clinvar/357291 ^@ NM_003221.3(TFAP2B):c.*136T>G http://identifiers.org/clinvar/361963 ^@ NM_003235.4(TG):c.4527C>T (p.His1509=) http://identifiers.org/clinvar/361964 ^@ NM_003235.4(TG):c.4563G>A (p.Leu1521=) http://identifiers.org/clinvar/366389 ^@ NM_000459.4(TEK):c.-96G>A http://identifiers.org/clinvar/357293 ^@ NM_003221.3(TFAP2B):c.*334A>G http://identifiers.org/clinvar/366399 ^@ NM_133497.3(KCNV2):c.-161G>A http://identifiers.org/clinvar/357305 ^@ NM_003221.3(TFAP2B):c.*912_*916delCACAC http://identifiers.org/clinvar/357303 ^@ NM_003221.3(TFAP2B):c.*924_*925delCA http://identifiers.org/clinvar/357306 ^@ NM_003221.3(TFAP2B):c.*927T>C http://identifiers.org/clinvar/366400 ^@ NM_133497.3(KCNV2):c.-145T>C http://identifiers.org/clinvar/357311 ^@ NM_003221.3(TFAP2B):c.*1380G>C http://identifiers.org/clinvar/366401 ^@ NM_133497.3(KCNV2):c.-111C>T http://identifiers.org/clinvar/357314 ^@ NM_003221.3(TFAP2B):c.*1644delC http://identifiers.org/clinvar/357318 ^@ NM_003221.3(TFAP2B):c.*1790A>G http://identifiers.org/clinvar/357319 ^@ NM_003221.3(TFAP2B):c.*1801G>A http://identifiers.org/clinvar/366404 ^@ NM_133497.3(KCNV2):c.-36C>T http://identifiers.org/clinvar/366405 ^@ NM_133497.3(KCNV2):c.-19G>C http://identifiers.org/clinvar/357320 ^@ NM_003221.3(TFAP2B):c.*1879T>C http://identifiers.org/clinvar/357328 ^@ NM_003221.3(TFAP2B):c.*2223G>A http://identifiers.org/clinvar/357334 ^@ NM_003221.3(TFAP2B):c.*2624T>C http://identifiers.org/clinvar/366409 ^@ NM_133497.3(KCNV2):c.121G>A (p.Ala41Thr) http://identifiers.org/clinvar/357193 ^@ NM_012120.2(CD2AP):c.*490G>A http://identifiers.org/clinvar/366417 ^@ NM_133497.3(KCNV2):c.882C>T (p.Gly294=) http://identifiers.org/clinvar/366419 ^@ NM_133497.3(KCNV2):c.1063T>C (p.Phe355Leu) http://identifiers.org/clinvar/357187 ^@ NM_012120.2(CD2AP):c.*492_*495dupGTGT http://identifiers.org/clinvar/357198 ^@ NM_012120.2(CD2AP):c.*494G>A http://identifiers.org/clinvar/357190 ^@ NM_012120.2(CD2AP):c.*494_*495delGT http://identifiers.org/clinvar/357197 ^@ NM_012120.2(CD2AP):c.*494_*503delGTATATATAT http://identifiers.org/clinvar/366421 ^@ NM_133497.3(KCNV2):c.1144A>T (p.Met382Leu) http://identifiers.org/clinvar/357199 ^@ NM_012120.2(CD2AP):c.*495_*496insGTAT http://identifiers.org/clinvar/357214 ^@ NM_012120.2(CD2AP):c.*828G>C http://identifiers.org/clinvar/357221 ^@ NM_012120.2(CD2AP):c.*2037C>G http://identifiers.org/clinvar/366427 ^@ NM_000459.4(TEK):c.1680T>C (p.Asn560=) http://identifiers.org/clinvar/366430 ^@ NM_000459.4(TEK):c.1798G>T (p.Val600Leu) http://identifiers.org/clinvar/357222 ^@ NM_012120.2(CD2AP):c.*2039T>C http://identifiers.org/clinvar/366438 ^@ NM_000459.4(TEK):c.2170G>A (p.Ala724Thr) http://identifiers.org/clinvar/357223 ^@ NM_012120.2(CD2AP):c.*2116_*2118delTCT http://identifiers.org/clinvar/366441 ^@ NM_000459.4(TEK):c.2454G>C (p.Val818=) http://identifiers.org/clinvar/357345 ^@ NM_003221.3(TFAP2B):c.*3725C>A http://identifiers.org/clinvar/357347 ^@ NM_003221.3(TFAP2B):c.*3955G>C http://identifiers.org/clinvar/357349 ^@ NM_003221.3(TFAP2B):c.*4081A>T http://identifiers.org/clinvar/366453 ^@ NM_000459.4(TEK):c.3200+12C>G http://identifiers.org/clinvar/366468 ^@ NM_000459.4(TEK):c.*536C>T http://identifiers.org/clinvar/357357 ^@ NM_138694.3(PKHD1):c.*3444G>A http://identifiers.org/clinvar/357362 ^@ NM_138694.3(PKHD1):c.*3026A>G http://identifiers.org/clinvar/357367 ^@ NM_138694.3(PKHD1):c.*2580C>A http://identifiers.org/clinvar/357230 ^@ NM_012120.2(CD2AP):c.*2369G>A http://identifiers.org/clinvar/357368 ^@ NM_138694.3(PKHD1):c.*2564A>G http://identifiers.org/clinvar/357238 ^@ NM_000255.3(MUT):c.*1107dupA http://identifiers.org/clinvar/357375 ^@ NM_138694.3(PKHD1):c.*2082A>G http://identifiers.org/clinvar/361968 ^@ NM_003235.4(TG):c.4982G>A (p.Arg1661His) http://identifiers.org/clinvar/361973 ^@ NM_003235.4(TG):c.5234-10T>C http://identifiers.org/clinvar/361980 ^@ NM_003235.4(TG):c.5907G>A (p.Pro1969=) http://identifiers.org/clinvar/357383 ^@ NM_138694.3(PKHD1):c.*1525G>A http://identifiers.org/clinvar/357240 ^@ NM_000255.3(MUT):c.*775A>G http://identifiers.org/clinvar/357386 ^@ NM_138694.3(PKHD1):c.*1376A>G http://identifiers.org/clinvar/366476 ^@ NM_000459.4(TEK):c.*788_*789delAT http://identifiers.org/clinvar/366477 ^@ NM_000459.4(TEK):c.*904T>G http://identifiers.org/clinvar/357388 ^@ NM_138694.3(PKHD1):c.*1257G>A http://identifiers.org/clinvar/357390 ^@ NM_138694.3(PKHD1):c.*1154A>G http://identifiers.org/clinvar/357392 ^@ NM_138694.3(PKHD1):c.*1023G>A http://identifiers.org/clinvar/366479 ^@ NM_133497.3(KCNV2):c.1616T>C (p.Leu539Pro) http://identifiers.org/clinvar/357244 ^@ NM_000255.3(MUT):c.*465C>T http://identifiers.org/clinvar/357254 ^@ NM_000255.3(MUT):c.1991C>T (p.Ala664Val) http://identifiers.org/clinvar/361985 ^@ NM_003235.4(TG):c.6576C>T (p.Leu2192=) http://identifiers.org/clinvar/366480 ^@ NM_133497.3(KCNV2):c.*90A>G http://identifiers.org/clinvar/366483 ^@ NM_133497.3(KCNV2):c.*308T>G http://identifiers.org/clinvar/357393 ^@ NM_138694.3(PKHD1):c.*1005C>T http://identifiers.org/clinvar/366487 ^@ NM_001256054.2(C9orf72):c.*1262A>C http://identifiers.org/clinvar/357257 ^@ NM_000255.3(MUT):c.1669C>T (p.Arg557Trp) http://identifiers.org/clinvar/357403 ^@ NM_138694.3(PKHD1):c.11885A>G (p.Glu3962Gly) http://identifiers.org/clinvar/366494 ^@ NM_001256054.2(C9orf72):c.*673T>C http://identifiers.org/clinvar/366495 ^@ NM_001256054.2(C9orf72):c.*651G>T http://identifiers.org/clinvar/357410 ^@ NM_138694.3(PKHD1):c.10924A>G (p.Met3642Val) http://identifiers.org/clinvar/366497 ^@ NM_001256054.2(C9orf72):c.*552A>C http://identifiers.org/clinvar/366498 ^@ NM_001256054.2(C9orf72):c.*356T>G http://identifiers.org/clinvar/357258 ^@ NM_000255.3(MUT):c.1614C>T (p.Thr538=) http://identifiers.org/clinvar/366510 ^@ NM_001256054.2(C9orf72):c.1260-12dupC http://identifiers.org/clinvar/366514 ^@ NM_001256054.2(C9orf72):c.1260-14_1260-13delTC http://identifiers.org/clinvar/357262 ^@ NM_000255.3(MUT):c.87G>A (p.Gln29=) http://identifiers.org/clinvar/366515 ^@ NM_001256054.2(C9orf72):c.1260-15_1260-13delTTC http://identifiers.org/clinvar/357270 ^@ NM_003221.3(TFAP2B):c.-83G>A http://identifiers.org/clinvar/357272 ^@ NM_003221.3(TFAP2B):c.48T>G (p.Leu16=) http://identifiers.org/clinvar/357275 ^@ NM_003221.3(TFAP2B):c.406G>C (p.Asp136His) http://identifiers.org/clinvar/357417 ^@ NM_138694.3(PKHD1):c.9493G>A (p.Val3165Met) http://identifiers.org/clinvar/366517 ^@ NM_001256054.2(C9orf72):c.1260-16_1260-14dupTTT http://identifiers.org/clinvar/357420 ^@ NM_138694.3(PKHD1):c.8989G>A (p.Gly2997Arg) http://identifiers.org/clinvar/366520 ^@ NM_001256054.2(C9orf72):c.1260-14delT http://identifiers.org/clinvar/357278 ^@ NM_003221.3(TFAP2B):c.540+14A>G http://identifiers.org/clinvar/357286 ^@ NM_003221.3(TFAP2B):c.1304A>C (p.Asn435Thr) http://identifiers.org/clinvar/357287 ^@ NM_003221.3(TFAP2B):c.*18_*20delAAG http://identifiers.org/clinvar/357425 ^@ NM_138694.3(PKHD1):c.8181C>G (p.Thr2727=) http://identifiers.org/clinvar/357297 ^@ NM_003221.3(TFAP2B):c.*822A>T http://identifiers.org/clinvar/357301 ^@ NM_003221.3(TFAP2B):c.*924_*925dupCA http://identifiers.org/clinvar/361988 ^@ NM_003235.4(TG):c.6945G>A (p.Pro2315=) http://identifiers.org/clinvar/357426 ^@ NM_138694.3(PKHD1):c.8156T>C (p.Met2719Thr) http://identifiers.org/clinvar/357431 ^@ NM_138694.3(PKHD1):c.7221T>C (p.Phe2407=) http://identifiers.org/clinvar/357434 ^@ NM_138694.3(PKHD1):c.6475G>A (p.Ala2159Thr) http://identifiers.org/clinvar/357437 ^@ NM_138694.3(PKHD1):c.5112C>T (p.Cys1704=) http://identifiers.org/clinvar/361996 ^@ NM_003235.4(TG):c.7573-5T>C http://identifiers.org/clinvar/366527 ^@ NM_001256054.2(C9orf72):c.462C>T (p.Val154=) http://identifiers.org/clinvar/361999 ^@ NM_003235.4(TG):c.7648G>A (p.Glu2550Lys) http://identifiers.org/clinvar/366536 ^@ NM_203447.3(DOCK8):c.218A>G (p.Asn73Ser) http://identifiers.org/clinvar/362004 ^@ NM_003235.4(TG):c.8189-14C>T http://identifiers.org/clinvar/362006 ^@ NM_003235.4(TG):c.8238G>A (p.Thr2746=) http://identifiers.org/clinvar/362010 ^@ NM_006096.3(NDRG1):c.*1340G>A http://identifiers.org/clinvar/362016 ^@ NM_006096.3(NDRG1):c.*866A>T http://identifiers.org/clinvar/357310 ^@ NM_003221.3(TFAP2B):c.*1348G>A http://identifiers.org/clinvar/357325 ^@ NM_003221.3(TFAP2B):c.*2003A>G http://identifiers.org/clinvar/366539 ^@ NM_203447.3(DOCK8):c.447A>G (p.Gly149=) http://identifiers.org/clinvar/357440 ^@ NM_138694.3(PKHD1):c.3474G>A (p.Trp1158Ter) http://identifiers.org/clinvar/366543 ^@ NM_203447.3(DOCK8):c.536C>T (p.Pro179Leu) http://identifiers.org/clinvar/357441 ^@ NM_138694.3(PKHD1):c.3338T>G (p.Leu1113Arg) http://identifiers.org/clinvar/357442 ^@ NM_138694.3(PKHD1):c.2781A>G (p.Gln927=) http://identifiers.org/clinvar/357446 ^@ NM_138694.3(PKHD1):c.1960G>A (p.Glu654Lys) http://identifiers.org/clinvar/366546 ^@ NM_203447.3(DOCK8):c.663C>A (p.Asp221Glu) http://identifiers.org/clinvar/357447 ^@ NM_138694.3(PKHD1):c.1893C>G (p.Phe631Leu) http://identifiers.org/clinvar/366554 ^@ NM_005802.4(TOPORS):c.*139delT http://identifiers.org/clinvar/366553 ^@ NM_005802.4(TOPORS):c.*139dupT http://identifiers.org/clinvar/357448 ^@ NM_138694.3(PKHD1):c.1848A>T (p.Ala616=) http://identifiers.org/clinvar/366558 ^@ NM_005802.4(TOPORS):c.*9A>G http://identifiers.org/clinvar/366560 ^@ NM_005802.4(TOPORS):c.2967A>G (p.Ala989=) http://identifiers.org/clinvar/357327 ^@ NM_003221.3(TFAP2B):c.*2218T>A http://identifiers.org/clinvar/366569 ^@ NM_005802.4(TOPORS):c.1722G>A (p.Leu574=) http://identifiers.org/clinvar/362017 ^@ NM_006096.3(NDRG1):c.*834T>A http://identifiers.org/clinvar/357329 ^@ NM_003221.3(TFAP2B):c.*2227T>C http://identifiers.org/clinvar/362019 ^@ NM_006096.3(NDRG1):c.*691G>A http://identifiers.org/clinvar/362022 ^@ NM_006096.3(NDRG1):c.*618T>G http://identifiers.org/clinvar/357335 ^@ NM_003221.3(TFAP2B):c.*2778T>C http://identifiers.org/clinvar/357338 ^@ NM_003221.3(TFAP2B):c.*3078C>G http://identifiers.org/clinvar/357450 ^@ NM_138694.3(PKHD1):c.1353G>A (p.Met451Ile) http://identifiers.org/clinvar/357341 ^@ NM_003221.3(TFAP2B):c.*3397C>T http://identifiers.org/clinvar/357452 ^@ NM_138694.3(PKHD1):c.1233+1G>A http://identifiers.org/clinvar/366571 ^@ NM_005802.4(TOPORS):c.1238A>C (p.Gln413Pro) http://identifiers.org/clinvar/357453 ^@ NM_138694.3(PKHD1):c.904G>A (p.Val302Met) http://identifiers.org/clinvar/366577 ^@ NM_005802.4(TOPORS):c.-191T>C http://identifiers.org/clinvar/362028 ^@ NM_006096.3(NDRG1):c.*100G>A http://identifiers.org/clinvar/366579 ^@ NM_203447.3(DOCK8):c.1044+13G>T http://identifiers.org/clinvar/357350 ^@ NM_003221.3(TFAP2B):c.*4111A>T http://identifiers.org/clinvar/366580 ^@ NM_175073.2(APTX):c.*858C>G http://identifiers.org/clinvar/357358 ^@ NM_138694.3(PKHD1):c.*3393C>A http://identifiers.org/clinvar/357371 ^@ NM_138694.3(PKHD1):c.*2331C>T http://identifiers.org/clinvar/362029 ^@ NM_006096.3(NDRG1):c.*69C>T http://identifiers.org/clinvar/362038 ^@ NM_006096.3(NDRG1):c.307G>C (p.Ala103Pro) http://identifiers.org/clinvar/362061 ^@ NM_031466.7(TRAPPC9):c.3705C>A (p.Pro1235=) http://identifiers.org/clinvar/357373 ^@ NM_138694.3(PKHD1):c.*2208A>G http://identifiers.org/clinvar/362062 ^@ NM_031466.7(TRAPPC9):c.3585C>T (p.Ser1195=) http://identifiers.org/clinvar/366582 ^@ NM_175073.2(APTX):c.*834C>G http://identifiers.org/clinvar/366588 ^@ NM_175073.2(APTX):c.*187G>C http://identifiers.org/clinvar/362063 ^@ NM_031466.7(TRAPPC9):c.3582G>A (p.Pro1194=) http://identifiers.org/clinvar/362064 ^@ NM_031466.7(TRAPPC9):c.3443G>A (p.Arg1148Gln) http://identifiers.org/clinvar/357455 ^@ NM_138694.3(PKHD1):c.779-12delT http://identifiers.org/clinvar/366589 ^@ NM_175073.2(APTX):c.874+14C>G http://identifiers.org/clinvar/357459 ^@ NM_138694.3(PKHD1):c.150T>G (p.Leu50=) http://identifiers.org/clinvar/357461 ^@ NM_138694.3(PKHD1):c.-214G>A http://identifiers.org/clinvar/357463 ^@ NM_052872.3(IL17F):c.*243T>G http://identifiers.org/clinvar/357381 ^@ NM_138694.3(PKHD1):c.*1589T>G http://identifiers.org/clinvar/357470 ^@ NM_052872.3(IL17F):c.318C>T (p.Gly106=) http://identifiers.org/clinvar/362066 ^@ NM_031466.7(TRAPPC9):c.3282G>A (p.Glu1094=) http://identifiers.org/clinvar/362074 ^@ NM_031466.7(TRAPPC9):c.2851-13T>A http://identifiers.org/clinvar/366590 ^@ NM_175073.2(APTX):c.742T>C (p.Leu248=) http://identifiers.org/clinvar/366594 ^@ NM_175073.2(APTX):c.375A>T (p.Glu125Asp) http://identifiers.org/clinvar/362075 ^@ NM_031466.7(TRAPPC9):c.2851-14T>A http://identifiers.org/clinvar/362076 ^@ NM_031466.7(TRAPPC9):c.2850+11A>G http://identifiers.org/clinvar/362078 ^@ NM_031466.7(TRAPPC9):c.2573-11delT http://identifiers.org/clinvar/357472 ^@ NM_052872.3(IL17F):c.223G>A (p.Glu75Lys) http://identifiers.org/clinvar/366608 ^@ NM_001497.3(B4GALT1):c.*2398delC http://identifiers.org/clinvar/366610 ^@ NM_001497.3(B4GALT1):c.*2269C>G http://identifiers.org/clinvar/366611 ^@ NM_001497.3(B4GALT1):c.*2253G>A http://identifiers.org/clinvar/357477 ^@ NM_018100.3(EFHC1):c.-146_-145delGC http://identifiers.org/clinvar/357480 ^@ NM_018100.3(EFHC1):c.559G>A (p.Asp187Asn) http://identifiers.org/clinvar/362080 ^@ NM_031466.7(TRAPPC9):c.2531T>C (p.Leu844Ser) http://identifiers.org/clinvar/357398 ^@ NM_138694.3(PKHD1):c.*374T>C http://identifiers.org/clinvar/366614 ^@ NM_001497.3(B4GALT1):c.*2175_*2177delGTT http://identifiers.org/clinvar/357407 ^@ NM_138694.3(PKHD1):c.11279T>G (p.Val3760Gly) http://identifiers.org/clinvar/357409 ^@ NM_138694.3(PKHD1):c.11000G>C (p.Gly3667Ala) http://identifiers.org/clinvar/357481 ^@ NM_018100.3(EFHC1):c.666_671delGTATGT (p.Lys222_Val224delinsAsn) http://identifiers.org/clinvar/362081 ^@ NM_031466.7(TRAPPC9):c.2371G>A (p.Ala791Thr) http://identifiers.org/clinvar/357484 ^@ NM_018100.3(EFHC1):c.1197T>C (p.Ala399=) http://identifiers.org/clinvar/357412 ^@ NM_138694.3(PKHD1):c.10583A>G (p.Asn3528Ser) http://identifiers.org/clinvar/366620 ^@ NM_001497.3(B4GALT1):c.*1874C>T http://identifiers.org/clinvar/366625 ^@ NM_001497.3(B4GALT1):c.*1499C>T http://identifiers.org/clinvar/357413 ^@ NM_138694.3(PKHD1):c.10002A>G (p.Lys3334=) http://identifiers.org/clinvar/366626 ^@ NM_001497.3(B4GALT1):c.*1461A>T http://identifiers.org/clinvar/366628 ^@ NM_001497.3(B4GALT1):c.*1332C>A http://identifiers.org/clinvar/357419 ^@ NM_138694.3(PKHD1):c.9270C>A (p.Asn3090Lys) http://identifiers.org/clinvar/357428 ^@ NM_138694.3(PKHD1):c.7635C>G (p.Thr2545=) http://identifiers.org/clinvar/357435 ^@ NM_138694.3(PKHD1):c.5829C>T (p.Gly1943=) http://identifiers.org/clinvar/362086 ^@ NM_031466.7(TRAPPC9):c.1714A>G (p.Met572Val) http://identifiers.org/clinvar/366633 ^@ NM_001497.3(B4GALT1):c.*1014A>G http://identifiers.org/clinvar/366635 ^@ NM_001497.3(B4GALT1):c.*925A>G http://identifiers.org/clinvar/357436 ^@ NM_138694.3(PKHD1):c.5301T>C (p.Ala1767=) http://identifiers.org/clinvar/366638 ^@ NM_001497.3(B4GALT1):c.*734_*737delAGAA http://identifiers.org/clinvar/357438 ^@ NM_138694.3(PKHD1):c.4212G>C (p.Gly1404=) http://identifiers.org/clinvar/357439 ^@ NM_138694.3(PKHD1):c.3629-15G>A http://identifiers.org/clinvar/357485 ^@ NM_018100.3(EFHC1):c.1265A>T (p.Tyr422Phe) http://identifiers.org/clinvar/366640 ^@ NM_001497.3(B4GALT1):c.*706A>T http://identifiers.org/clinvar/357493 ^@ NM_018100.3(EFHC1):c.*392A>C http://identifiers.org/clinvar/362087 ^@ NM_031466.7(TRAPPC9):c.1664C>A (p.Ala555Asp) http://identifiers.org/clinvar/366651 ^@ NM_001497.3(B4GALT1):c.*183C>G http://identifiers.org/clinvar/366655 ^@ NM_001497.3(B4GALT1):c.1050A>G (p.Glu350=) http://identifiers.org/clinvar/357451 ^@ NM_138694.3(PKHD1):c.1256T>C (p.Val419Ala) http://identifiers.org/clinvar/366674 ^@ NM_203447.3(DOCK8):c.1391C>T (p.Ser464Phe) http://identifiers.org/clinvar/362088 ^@ NM_031466.7(TRAPPC9):c.1234G>A (p.Ala412Thr) http://identifiers.org/clinvar/362095 ^@ NM_031466.7(TRAPPC9):c.271G>A (p.Ala91Thr) http://identifiers.org/clinvar/362098 ^@ NM_020427.2(SLURP1):c.*143G>A http://identifiers.org/clinvar/357495 ^@ NM_018100.3(EFHC1):c.*551_*552dupTA http://identifiers.org/clinvar/366677 ^@ NM_203447.3(DOCK8):c.1649G>A (p.Arg550Gln) http://identifiers.org/clinvar/366679 ^@ NM_012144.3(DNAI1):c.-178G>C http://identifiers.org/clinvar/357454 ^@ NM_138694.3(PKHD1):c.779-9dupC http://identifiers.org/clinvar/366680 ^@ NM_012144.3(DNAI1):c.-170T>A http://identifiers.org/clinvar/366685 ^@ NM_012144.3(DNAI1):c.359G>A (p.Arg120Gln) http://identifiers.org/clinvar/357456 ^@ NM_138694.3(PKHD1):c.708-4G>A http://identifiers.org/clinvar/366686 ^@ NM_012144.3(DNAI1):c.389-15C>T http://identifiers.org/clinvar/357460 ^@ NM_138694.3(PKHD1):c.-30A>G http://identifiers.org/clinvar/357462 ^@ NM_138694.3(PKHD1):c.-223G>A http://identifiers.org/clinvar/357467 ^@ NM_052872.3(IL17F):c.469C>T (p.Pro157Ser) http://identifiers.org/clinvar/366688 ^@ NM_012144.3(DNAI1):c.649C>G (p.Pro217Ala) http://identifiers.org/clinvar/357496 ^@ NM_018100.3(EFHC1):c.*681G>A http://identifiers.org/clinvar/362106 ^@ NM_000497.3(CYP11B1):c.*1622C>T http://identifiers.org/clinvar/362113 ^@ NM_000497.3(CYP11B1):c.*1417G>A http://identifiers.org/clinvar/357498 ^@ NM_018100.3(EFHC1):c.*881A>T http://identifiers.org/clinvar/357502 ^@ NM_018100.3(EFHC1):c.*1039_*1044dupATATAT http://identifiers.org/clinvar/366690 ^@ NM_012144.3(DNAI1):c.1195G>A (p.Val399Met) http://identifiers.org/clinvar/366691 ^@ NM_012144.3(DNAI1):c.1291C>G (p.His431Asp) http://identifiers.org/clinvar/357471 ^@ NM_052872.3(IL17F):c.243C>G (p.Pro81=) http://identifiers.org/clinvar/357473 ^@ NM_052872.3(IL17F):c.-6C>T http://identifiers.org/clinvar/357501 ^@ NM_018100.3(EFHC1):c.*1041_*1044dupATAT http://identifiers.org/clinvar/366692 ^@ NM_012144.3(DNAI1):c.1489+8C>A http://identifiers.org/clinvar/357510 ^@ NM_018100.3(EFHC1):c.*1045delTinsATATATATATATATATATATATATATATATATA http://identifiers.org/clinvar/366703 ^@ NM_007126.3(VCP):c.*1035dupA http://identifiers.org/clinvar/366707 ^@ NM_007126.3(VCP):c.*596C>T http://identifiers.org/clinvar/357479 ^@ NM_018100.3(EFHC1):c.346A>G (p.Arg116Gly) http://identifiers.org/clinvar/357486 ^@ NM_018100.3(EFHC1):c.1895A>G (p.Tyr632Cys) http://identifiers.org/clinvar/357487 ^@ NM_018100.3(EFHC1):c.*66C>G http://identifiers.org/clinvar/357497 ^@ NM_018100.3(EFHC1):c.*871C>G http://identifiers.org/clinvar/357511 ^@ NM_018100.3(EFHC1):c.*1072_*1073delAC http://identifiers.org/clinvar/357517 ^@ NM_018100.3(EFHC1):c.*1749_*1750insAC http://identifiers.org/clinvar/357526 ^@ NM_018100.3(EFHC1):c.*2972C>G http://identifiers.org/clinvar/366708 ^@ NM_007126.3(VCP):c.*438A>G http://identifiers.org/clinvar/366710 ^@ NM_007126.3(VCP):c.*382C>T http://identifiers.org/clinvar/357527 ^@ NM_018100.3(EFHC1):c.*3144T>A http://identifiers.org/clinvar/366712 ^@ NM_007126.3(VCP):c.*184G>A http://identifiers.org/clinvar/366715 ^@ NM_007126.3(VCP):c.*64C>T http://identifiers.org/clinvar/357530 ^@ NM_001723.5(DST):c.*733A>T http://identifiers.org/clinvar/362114 ^@ NM_000497.3(CYP11B1):c.*1358T>C http://identifiers.org/clinvar/357500 ^@ NM_018100.3(EFHC1):c.*957C>T http://identifiers.org/clinvar/357507 ^@ NM_018100.3(EFHC1):c.*1024C>T http://identifiers.org/clinvar/357516 ^@ NM_018100.3(EFHC1):c.*1576C>A http://identifiers.org/clinvar/357520 ^@ NM_018100.3(EFHC1):c.*2023T>C http://identifiers.org/clinvar/362115 ^@ NM_000497.3(CYP11B1):c.*1288A>G http://identifiers.org/clinvar/366717 ^@ NM_007126.3(VCP):c.1360-6T>C http://identifiers.org/clinvar/362117 ^@ NM_000497.3(CYP11B1):c.*1209C>T http://identifiers.org/clinvar/357539 ^@ NM_001723.5(DST):c.*261_*262dupTT http://identifiers.org/clinvar/366734 ^@ NM_004629.1(FANCG):c.957G>A (p.Pro319=) http://identifiers.org/clinvar/357540 ^@ NM_001723.5(DST):c.*169A>C http://identifiers.org/clinvar/357543 ^@ NM_001723.5(DST):c.7765A>G (p.Ile2589Val) http://identifiers.org/clinvar/362118 ^@ NM_000497.3(CYP11B1):c.*1164G>A http://identifiers.org/clinvar/366735 ^@ NM_004629.1(FANCG):c.880G>A (p.Gly294Arg) http://identifiers.org/clinvar/357524 ^@ NM_018100.3(EFHC1):c.*2430C>T http://identifiers.org/clinvar/362123 ^@ NM_000497.3(CYP11B1):c.*923G>C http://identifiers.org/clinvar/366736 ^@ NM_004629.1(FANCG):c.682G>A (p.Ala228Thr) http://identifiers.org/clinvar/366738 ^@ NM_004629.1(FANCG):c.-93C>G http://identifiers.org/clinvar/357528 ^@ NM_018100.3(EFHC1):c.*3192G>A http://identifiers.org/clinvar/366746 ^@ NM_004629.1(FANCG):c.-490G>T http://identifiers.org/clinvar/366747 ^@ NM_004629.1(FANCG):c.-491G>A http://identifiers.org/clinvar/362124 ^@ NM_000497.3(CYP11B1):c.*901G>A http://identifiers.org/clinvar/357545 ^@ NM_001723.5(DST):c.7580T>C (p.Ile2527Thr) http://identifiers.org/clinvar/357535 ^@ NM_001723.5(DST):c.*573A>G http://identifiers.org/clinvar/357538 ^@ NM_001723.5(DST):c.*262dupT http://identifiers.org/clinvar/357544 ^@ NM_001723.5(DST):c.7619A>G (p.Glu2540Gly) http://identifiers.org/clinvar/357549 ^@ NM_001723.5(DST):c.7284A>G (p.Thr2428=) http://identifiers.org/clinvar/357550 ^@ NM_001723.5(DST):c.7224G>T (p.Glu2408Asp) http://identifiers.org/clinvar/366763 ^@ NM_032634.3(PIGO):c.-94C>A http://identifiers.org/clinvar/357553 ^@ NM_001723.5(DST):c.6868A>G (p.Arg2290Gly) http://identifiers.org/clinvar/366765 ^@ NM_003289.3(TPM2):c.*99A>G http://identifiers.org/clinvar/362142 ^@ NM_000497.3(CYP11B1):c.*193A>T http://identifiers.org/clinvar/362145 ^@ NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) http://identifiers.org/clinvar/366767 ^@ NM_003289.3(TPM2):c.813C>T (p.Ser271=) http://identifiers.org/clinvar/362164 ^@ NM_000497.3(CYP11B1):c.595+12G>A http://identifiers.org/clinvar/362165 ^@ NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) http://identifiers.org/clinvar/362167 ^@ NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) http://identifiers.org/clinvar/357554 ^@ NM_001723.5(DST):c.6673T>C (p.Leu2225=) http://identifiers.org/clinvar/357559 ^@ NM_001723.5(DST):c.6007G>A (p.Ala2003Thr) http://identifiers.org/clinvar/357561 ^@ NM_001723.5(DST):c.5909T>C (p.Phe1970Ser) http://identifiers.org/clinvar/362172 ^@ NM_000498.3(CYP11B2):c.*1246_*1248delCGC http://identifiers.org/clinvar/357562 ^@ NM_001723.5(DST):c.5892C>T (p.Thr1964=) http://identifiers.org/clinvar/357563 ^@ NM_001723.5(DST):c.5485C>G (p.Gln1829Glu) http://identifiers.org/clinvar/357569 ^@ NM_001723.5(DST):c.4980A>C (p.Val1660=) http://identifiers.org/clinvar/357557 ^@ NM_001723.5(DST):c.6240T>G (p.Cys2080Trp) http://identifiers.org/clinvar/366770 ^@ NM_003289.3(TPM2):c.564-9C>T http://identifiers.org/clinvar/357565 ^@ NM_001723.5(DST):c.5257G>A (p.Glu1753Lys) http://identifiers.org/clinvar/362175 ^@ NM_000498.3(CYP11B2):c.*972C>G http://identifiers.org/clinvar/357566 ^@ NM_001723.5(DST):c.5153A>C (p.Lys1718Thr) http://identifiers.org/clinvar/357568 ^@ NM_001723.5(DST):c.5055T>C (p.Asn1685=) http://identifiers.org/clinvar/357572 ^@ NM_001723.5(DST):c.4674C>T (p.Leu1558=) http://identifiers.org/clinvar/357573 ^@ NM_001723.5(DST):c.4464C>T (p.Asp1488=) http://identifiers.org/clinvar/357576 ^@ NM_001723.5(DST):c.4289C>T (p.Ala1430Val) http://identifiers.org/clinvar/357577 ^@ NM_001723.5(DST):c.4110A>G (p.Glu1370=) http://identifiers.org/clinvar/366777 ^@ NM_003995.3(NPR2):c.98A>C (p.Glu33Ala) http://identifiers.org/clinvar/357575 ^@ NM_001723.5(DST):c.4397A>G (p.Lys1466Arg) http://identifiers.org/clinvar/366784 ^@ NM_003995.3(NPR2):c.1403T>G (p.Ile468Ser) http://identifiers.org/clinvar/366792 ^@ NM_003995.3(NPR2):c.2712+11_2712+19delGGGCCGCTG http://identifiers.org/clinvar/366793 ^@ NM_003995.3(NPR2):c.2833C>T (p.Arg945Cys) http://identifiers.org/clinvar/357583 ^@ NM_001723.5(DST):c.3956C>A (p.Ala1319Glu) http://identifiers.org/clinvar/357584 ^@ NM_001723.5(DST):c.3809A>G (p.Lys1270Arg) http://identifiers.org/clinvar/362178 ^@ NM_000498.3(CYP11B2):c.*744G>A http://identifiers.org/clinvar/366794 ^@ NM_005476.5(GNE):c.*2905_*2906delAA http://identifiers.org/clinvar/362180 ^@ NM_000498.3(CYP11B2):c.*735G>A http://identifiers.org/clinvar/357580 ^@ NM_001723.5(DST):c.4050G>A (p.Thr1350=) http://identifiers.org/clinvar/357586 ^@ NM_001723.5(DST):c.3690C>T (p.Ala1230=) http://identifiers.org/clinvar/362207 ^@ NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) http://identifiers.org/clinvar/362208 ^@ NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) http://identifiers.org/clinvar/366795 ^@ NM_005476.5(GNE):c.*2877T>C http://identifiers.org/clinvar/366797 ^@ NM_005476.5(GNE):c.*2789G>A http://identifiers.org/clinvar/366799 ^@ NM_005476.5(GNE):c.*2679G>A http://identifiers.org/clinvar/366800 ^@ NM_005476.5(GNE):c.*2576A>G http://identifiers.org/clinvar/362222 ^@ NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) http://identifiers.org/clinvar/362225 ^@ NM_000498.3(CYP11B2):c.395+10G>A http://identifiers.org/clinvar/362227 ^@ NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) http://identifiers.org/clinvar/357587 ^@ NM_001723.5(DST):c.3436A>G (p.Met1146Val) http://identifiers.org/clinvar/362232 ^@ NM_130849.3(SLC39A4):c.1495A>G (p.Met499Val) http://identifiers.org/clinvar/357590 ^@ NM_001723.5(DST):c.3295T>C (p.Leu1099=) http://identifiers.org/clinvar/362234 ^@ NM_130849.3(SLC39A4):c.1426G>A (p.Glu476Lys) http://identifiers.org/clinvar/366812 ^@ NM_005476.5(GNE):c.*1728C>T http://identifiers.org/clinvar/366830 ^@ NM_005476.5(GNE):c.*702dupA http://identifiers.org/clinvar/357591 ^@ NM_001723.5(DST):c.3220-3C>A http://identifiers.org/clinvar/357582 ^@ NM_001723.5(DST):c.3957A>C (p.Ala1319=) http://identifiers.org/clinvar/366835 ^@ NM_005476.5(GNE):c.*583G>A http://identifiers.org/clinvar/357589 ^@ NM_001723.5(DST):c.3336G>C (p.Glu1112Asp) http://identifiers.org/clinvar/366838 ^@ NM_005476.5(GNE):c.*446C>T http://identifiers.org/clinvar/357595 ^@ NM_001723.5(DST):c.2979T>G (p.Asn993Lys) http://identifiers.org/clinvar/366844 ^@ NM_005476.5(GNE):c.769+4A>G http://identifiers.org/clinvar/357603 ^@ NM_001723.5(DST):c.2246T>G (p.Ile749Ser) http://identifiers.org/clinvar/357622 ^@ NM_001723.5(DST):c.25C>T (p.Arg9Cys) http://identifiers.org/clinvar/357624 ^@ NM_001723.5(DST):c.-65C>T http://identifiers.org/clinvar/362238 ^@ NM_130849.3(SLC39A4):c.1150-15G>A http://identifiers.org/clinvar/357632 ^@ NM_183227.2(RAB23):c.*735T>G http://identifiers.org/clinvar/362239 ^@ NM_130849.3(SLC39A4):c.1141A>G (p.Thr381Ala) http://identifiers.org/clinvar/362249 ^@ NM_130849.3(SLC39A4):c.804+9C>T http://identifiers.org/clinvar/362251 ^@ NM_130849.3(SLC39A4):c.803C>T (p.Thr268Met) http://identifiers.org/clinvar/366850 ^@ NM_203447.3(DOCK8):c.1797+13A>C http://identifiers.org/clinvar/362253 ^@ NM_130849.3(SLC39A4):c.615C>T (p.Phe205=) http://identifiers.org/clinvar/357638 ^@ NM_183227.2(RAB23):c.*145T>C http://identifiers.org/clinvar/366855 ^@ NM_012203.1(GRHPR):c.468C>T (p.Val156=) http://identifiers.org/clinvar/362255 ^@ NM_130849.3(SLC39A4):c.592G>A (p.Ala198Thr) http://identifiers.org/clinvar/366859 ^@ NM_012203.1(GRHPR):c.801A>C (p.Gly267=) http://identifiers.org/clinvar/366861 ^@ NM_012203.1(GRHPR):c.962C>T (p.Pro321Leu) http://identifiers.org/clinvar/357643 ^@ NM_183227.2(RAB23):c.398+9G>A http://identifiers.org/clinvar/366868 ^@ NM_016042.3(EXOSC3):c.*881A>G http://identifiers.org/clinvar/366869 ^@ NM_016042.3(EXOSC3):c.*847T>A http://identifiers.org/clinvar/357652 ^@ NM_000129.3(F13A1):c.*927G>A http://identifiers.org/clinvar/366871 ^@ NM_016042.3(EXOSC3):c.*795A>G http://identifiers.org/clinvar/357657 ^@ NM_000129.3(F13A1):c.*587G>A http://identifiers.org/clinvar/357660 ^@ NM_000129.3(F13A1):c.*270C>T http://identifiers.org/clinvar/357661 ^@ NM_000129.3(F13A1):c.*221G>A http://identifiers.org/clinvar/366878 ^@ NM_016042.3(EXOSC3):c.166A>C (p.Asn56His) http://identifiers.org/clinvar/357664 ^@ NM_000129.3(F13A1):c.*112G>T http://identifiers.org/clinvar/366880 ^@ NM_016042.3(EXOSC3):c.-12G>C http://identifiers.org/clinvar/366882 ^@ NM_203447.3(DOCK8):c.2605+14G>C http://identifiers.org/clinvar/357665 ^@ NM_000129.3(F13A1):c.*89A>G http://identifiers.org/clinvar/366886 ^@ NM_001042413.1(GLIS3):c.*3409G>A http://identifiers.org/clinvar/366892 ^@ NM_001042413.1(GLIS3):c.*3337_*3338insA http://identifiers.org/clinvar/357592 ^@ NM_001723.5(DST):c.3220-6T>A http://identifiers.org/clinvar/366894 ^@ NM_001042413.1(GLIS3):c.*3336delA http://identifiers.org/clinvar/362279 ^@ NM_003923.2(FOXH1):c.785G>T (p.Gly262Val) http://identifiers.org/clinvar/357596 ^@ NM_001723.5(DST):c.2841T>C (p.Asn947=) http://identifiers.org/clinvar/357599 ^@ NM_001723.5(DST):c.2589A>G (p.Lys863=) http://identifiers.org/clinvar/362280 ^@ NM_003923.2(FOXH1):c.577C>A (p.Pro193Thr) http://identifiers.org/clinvar/366897 ^@ NM_001042413.1(GLIS3):c.*3257A>G http://identifiers.org/clinvar/366898 ^@ NM_001042413.1(GLIS3):c.*3231A>C http://identifiers.org/clinvar/362281 ^@ NM_003923.2(FOXH1):c.442G>A (p.Val148Met) http://identifiers.org/clinvar/357666 ^@ NM_000129.3(F13A1):c.*67C>T http://identifiers.org/clinvar/357600 ^@ NM_001723.5(DST):c.2451C>T (p.Val817=) http://identifiers.org/clinvar/357606 ^@ NM_001723.5(DST):c.1881C>T (p.Asn627=) http://identifiers.org/clinvar/357609 ^@ NM_001723.5(DST):c.1543C>G (p.His515Asp) http://identifiers.org/clinvar/366902 ^@ NM_001042413.1(GLIS3):c.*2944T>C http://identifiers.org/clinvar/357610 ^@ NM_001723.5(DST):c.1339C>T (p.Arg447Trp) http://identifiers.org/clinvar/357667 ^@ NM_000129.3(F13A1):c.*42G>A http://identifiers.org/clinvar/357670 ^@ NM_000129.3(F13A1):c.1860G>C (p.Leu620=) http://identifiers.org/clinvar/366905 ^@ NM_001042413.1(GLIS3):c.*2890C>G http://identifiers.org/clinvar/366906 ^@ NM_001042413.1(GLIS3):c.*2856A>C http://identifiers.org/clinvar/362284 ^@ NM_003923.2(FOXH1):c.-54C>T http://identifiers.org/clinvar/362285 ^@ NM_003923.2(FOXH1):c.-136delC http://identifiers.org/clinvar/362287 ^@ NM_003923.2(FOXH1):c.-280G>A http://identifiers.org/clinvar/357672 ^@ NM_000129.3(F13A1):c.1112+11T>C http://identifiers.org/clinvar/366915 ^@ NM_001042413.1(GLIS3):c.*2499T>A http://identifiers.org/clinvar/366916 ^@ NM_001042413.1(GLIS3):c.*2460C>T http://identifiers.org/clinvar/362293 ^@ NM_006765.3(TUSC3):c.-303C>G http://identifiers.org/clinvar/366933 ^@ NM_001042413.1(GLIS3):c.*1636G>T http://identifiers.org/clinvar/362295 ^@ NM_006765.3(TUSC3):c.-273G>A http://identifiers.org/clinvar/362296 ^@ NM_006765.3(TUSC3):c.-206C>T http://identifiers.org/clinvar/362312 ^@ NM_006765.3(TUSC3):c.677A>G (p.Tyr226Cys) http://identifiers.org/clinvar/366941 ^@ NM_001042413.1(GLIS3):c.*969C>G http://identifiers.org/clinvar/362315 ^@ NM_006765.3(TUSC3):c.*83A>C http://identifiers.org/clinvar/357614 ^@ NM_001723.5(DST):c.893G>A (p.Arg298His) http://identifiers.org/clinvar/357674 ^@ NM_000129.3(F13A1):c.889G>A (p.Val297Ile) http://identifiers.org/clinvar/366950 ^@ NM_001042413.1(GLIS3):c.*391C>T http://identifiers.org/clinvar/357677 ^@ NM_000129.3(F13A1):c.160T>A (p.Phe54Ile) http://identifiers.org/clinvar/357678 ^@ NM_000129.3(F13A1):c.102C>T (p.Gly34=) http://identifiers.org/clinvar/362322 ^@ NM_006765.3(TUSC3):c.*879A>T http://identifiers.org/clinvar/366951 ^@ NM_001042413.1(GLIS3):c.*99C>T http://identifiers.org/clinvar/362329 ^@ NM_006765.3(TUSC3):c.*1197G>A http://identifiers.org/clinvar/357615 ^@ NM_001723.5(DST):c.757T>C (p.Leu253=) http://identifiers.org/clinvar/357616 ^@ NM_001723.5(DST):c.739C>G (p.Pro247Ala) http://identifiers.org/clinvar/357617 ^@ NM_001723.5(DST):c.645A>T (p.Ser215=) http://identifiers.org/clinvar/357618 ^@ NM_001723.5(DST):c.514A>G (p.Met172Val) http://identifiers.org/clinvar/357698 ^@ NM_001142800.1(EYS):c.6725+9T>C http://identifiers.org/clinvar/362331 ^@ NM_006765.3(TUSC3):c.*1313G>A http://identifiers.org/clinvar/362332 ^@ NM_006765.3(TUSC3):c.*1371T>G http://identifiers.org/clinvar/366953 ^@ NM_001042413.1(GLIS3):c.2710G>A (p.Gly904Arg) http://identifiers.org/clinvar/362337 ^@ NM_006765.3(TUSC3):c.*1944C>T http://identifiers.org/clinvar/357619 ^@ NM_001723.5(DST):c.431G>A (p.Arg144His) http://identifiers.org/clinvar/362341 ^@ NM_006765.3(TUSC3):c.*2100C>A http://identifiers.org/clinvar/362344 ^@ NM_006765.3(TUSC3):c.*2183G>A http://identifiers.org/clinvar/362349 ^@ NM_177924.4(ASAH1):c.*1103C>T http://identifiers.org/clinvar/357620 ^@ NM_001723.5(DST):c.288G>A (p.Val96=) http://identifiers.org/clinvar/362351 ^@ NM_177924.4(ASAH1):c.*961A>G http://identifiers.org/clinvar/366958 ^@ NM_001042413.1(GLIS3):c.2060C>T (p.Ser687Phe) http://identifiers.org/clinvar/362353 ^@ NM_177924.4(ASAH1):c.*932C>T http://identifiers.org/clinvar/357623 ^@ NM_001723.5(DST):c.-2A>T http://identifiers.org/clinvar/357627 ^@ NM_183227.2(RAB23):c.*1251G>A http://identifiers.org/clinvar/362354 ^@ NM_177924.4(ASAH1):c.*926A>C http://identifiers.org/clinvar/357628 ^@ NM_183227.2(RAB23):c.*1184_*1187dupATCA http://identifiers.org/clinvar/357630 ^@ NM_183227.2(RAB23):c.*920C>G http://identifiers.org/clinvar/362364 ^@ NM_177924.4(ASAH1):c.*334G>A http://identifiers.org/clinvar/362370 ^@ NM_177924.4(ASAH1):c.*164T>A http://identifiers.org/clinvar/362386 ^@ NM_177924.4(ASAH1):c.-2C>G http://identifiers.org/clinvar/362390 ^@ NM_177924.4(ASAH1):c.-101G>A http://identifiers.org/clinvar/362394 ^@ NM_177924.4(ASAH1):c.-227T>G http://identifiers.org/clinvar/362395 ^@ NM_177924.4(ASAH1):c.-238C>T http://identifiers.org/clinvar/366960 ^@ NM_001042413.1(GLIS3):c.1988G>A (p.Arg663Gln) http://identifiers.org/clinvar/362401 ^@ NM_000237.2(LPL):c.-136T>C http://identifiers.org/clinvar/362405 ^@ NM_000237.2(LPL):c.260T>C (p.Met87Thr) http://identifiers.org/clinvar/362406 ^@ NM_000237.2(LPL):c.333G>T (p.Val111=) http://identifiers.org/clinvar/362412 ^@ NM_000237.2(LPL):c.786G>A (p.Gln262=) http://identifiers.org/clinvar/366970 ^@ NM_203447.3(DOCK8):c.3234+15dupC http://identifiers.org/clinvar/362413 ^@ NM_000237.2(LPL):c.1164C>A (p.Thr388=) http://identifiers.org/clinvar/366972 ^@ NM_203447.3(DOCK8):c.3254A>G (p.Asn1085Ser) http://identifiers.org/clinvar/366976 ^@ NM_203447.3(DOCK8):c.3519C>T (p.Ala1173=) http://identifiers.org/clinvar/357635 ^@ NM_183227.2(RAB23):c.*604_*607delAATT http://identifiers.org/clinvar/362418 ^@ NM_000237.2(LPL):c.*222A>C http://identifiers.org/clinvar/357708 ^@ NM_001142800.1(EYS):c.4663A>G (p.Thr1555Ala) http://identifiers.org/clinvar/362420 ^@ NM_000237.2(LPL):c.*290_*293delTTTG http://identifiers.org/clinvar/357709 ^@ NM_001142800.1(EYS):c.4607A>G (p.Gln1536Arg) http://identifiers.org/clinvar/366978 ^@ NM_001042413.1(GLIS3):c.1452G>A (p.Gln484=) http://identifiers.org/clinvar/357711 ^@ NM_001142800.1(EYS):c.4554A>C (p.Thr1518=) http://identifiers.org/clinvar/362428 ^@ NM_000237.2(LPL):c.*796A>G http://identifiers.org/clinvar/357642 ^@ NM_183227.2(RAB23):c.536A>C (p.Glu179Ala) http://identifiers.org/clinvar/366979 ^@ NM_001042413.1(GLIS3):c.1368A>T (p.Pro456=) http://identifiers.org/clinvar/357716 ^@ NM_001142800.1(EYS):c.3690C>T (p.Cys1230=) http://identifiers.org/clinvar/366980 ^@ NM_001042413.1(GLIS3):c.1327C>T (p.Leu443=) http://identifiers.org/clinvar/357724 ^@ NM_001142800.1(EYS):c.2739G>A (p.Arg913=) http://identifiers.org/clinvar/357731 ^@ NM_001142800.1(EYS):c.2157C>T (p.Cys719=) http://identifiers.org/clinvar/357648 ^@ NM_000129.3(F13A1):c.*1167T>G http://identifiers.org/clinvar/362430 ^@ NM_000237.2(LPL):c.*827A>T http://identifiers.org/clinvar/357742 ^@ NM_001142800.1(EYS):c.1218G>T (p.Glu406Asp) http://identifiers.org/clinvar/366982 ^@ NM_001042413.1(GLIS3):c.1216G>T (p.Gly406Cys) http://identifiers.org/clinvar/357653 ^@ NM_000129.3(F13A1):c.*743G>A http://identifiers.org/clinvar/366983 ^@ NM_001042413.1(GLIS3):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/357654 ^@ NM_000129.3(F13A1):c.*628G>A http://identifiers.org/clinvar/357658 ^@ NM_000129.3(F13A1):c.*443G>A http://identifiers.org/clinvar/357662 ^@ NM_000129.3(F13A1):c.*160G>A http://identifiers.org/clinvar/357663 ^@ NM_000129.3(F13A1):c.*126T>C http://identifiers.org/clinvar/357743 ^@ NM_001142800.1(EYS):c.1184+14T>C http://identifiers.org/clinvar/362434 ^@ NM_000237.2(LPL):c.*949G>A http://identifiers.org/clinvar/366985 ^@ NM_001042413.1(GLIS3):c.1090C>T (p.Pro364Ser) http://identifiers.org/clinvar/366988 ^@ NM_001042413.1(GLIS3):c.954C>T (p.Thr318=) http://identifiers.org/clinvar/357671 ^@ NM_000129.3(F13A1):c.1731G>C (p.Thr577=) http://identifiers.org/clinvar/357673 ^@ NM_000129.3(F13A1):c.990A>T (p.Gly330=) http://identifiers.org/clinvar/357683 ^@ NM_001142800.1(EYS):c.*412delA http://identifiers.org/clinvar/357688 ^@ NM_001142800.1(EYS):c.8233+8T>G http://identifiers.org/clinvar/357692 ^@ NM_001142800.1(EYS):c.7261A>C (p.Thr2421Pro) http://identifiers.org/clinvar/357744 ^@ NM_001142800.1(EYS):c.1145A>T (p.Asn382Ile) http://identifiers.org/clinvar/357747 ^@ NM_001142800.1(EYS):c.592T>A (p.Tyr198Asn) http://identifiers.org/clinvar/362436 ^@ NM_000237.2(LPL):c.*1142C>T http://identifiers.org/clinvar/357696 ^@ NM_001142800.1(EYS):c.6934C>T (p.Leu2312Phe) http://identifiers.org/clinvar/357751 ^@ NM_001142800.1(EYS):c.-68C>T http://identifiers.org/clinvar/366993 ^@ NM_203447.3(DOCK8):c.3606T>C (p.Cys1202=) http://identifiers.org/clinvar/366995 ^@ NM_203447.3(DOCK8):c.3813A>G (p.Lys1271=) http://identifiers.org/clinvar/366998 ^@ NM_001042413.1(GLIS3):c.287C>G (p.Pro96Arg) http://identifiers.org/clinvar/362438 ^@ NM_000237.2(LPL):c.*1167C>A http://identifiers.org/clinvar/367003 ^@ NM_001042413.1(GLIS3):c.-79G>A http://identifiers.org/clinvar/367005 ^@ NM_001042413.1(GLIS3):c.-110C>G http://identifiers.org/clinvar/367006 ^@ NM_001042413.1(GLIS3):c.-115G>A http://identifiers.org/clinvar/357701 ^@ NM_001142800.1(EYS):c.6047G>A (p.Gly2016Asp) http://identifiers.org/clinvar/357702 ^@ NM_001142800.1(EYS):c.5883T>G (p.Thr1961=) http://identifiers.org/clinvar/362440 ^@ NM_000237.2(LPL):c.*1224C>A http://identifiers.org/clinvar/367010 ^@ NM_001042413.1(GLIS3):c.-223C>T http://identifiers.org/clinvar/362443 ^@ NM_000237.2(LPL):c.*1291G>A http://identifiers.org/clinvar/357703 ^@ NM_001142800.1(EYS):c.5644+7T>G http://identifiers.org/clinvar/357704 ^@ NM_001142800.1(EYS):c.5618T>G (p.Leu1873Arg) http://identifiers.org/clinvar/362444 ^@ NM_000237.2(LPL):c.*1308G>C http://identifiers.org/clinvar/357715 ^@ NM_001142800.1(EYS):c.3855G>T (p.Met1285Ile) http://identifiers.org/clinvar/362445 ^@ NM_000237.2(LPL):c.*1416T>C http://identifiers.org/clinvar/367026 ^@ NM_203447.3(DOCK8):c.5467C>T (p.Pro1823Ser) http://identifiers.org/clinvar/357753 ^@ NM_001142800.1(EYS):c.-207A>G http://identifiers.org/clinvar/357720 ^@ NM_001142800.1(EYS):c.2992+9A>G http://identifiers.org/clinvar/357721 ^@ NM_001142800.1(EYS):c.2975G>T (p.Cys992Phe) http://identifiers.org/clinvar/367027 ^@ NM_203447.3(DOCK8):c.5585A>G (p.Tyr1862Cys) http://identifiers.org/clinvar/357722 ^@ NM_001142800.1(EYS):c.2890G>A (p.Glu964Lys) http://identifiers.org/clinvar/367030 ^@ NM_004170.5(SLC1A1):c.-167C>G http://identifiers.org/clinvar/357756 ^@ NM_001142800.1(EYS):c.-337T>A http://identifiers.org/clinvar/357759 ^@ NM_001142800.1(EYS):c.-414G>A http://identifiers.org/clinvar/357760 ^@ NM_001142800.1(EYS):c.-459C>T http://identifiers.org/clinvar/357769 ^@ NM_018368.3(LMBRD1):c.1192T>C (p.Tyr398His) http://identifiers.org/clinvar/357723 ^@ NM_001142800.1(EYS):c.2822G>T (p.Gly941Val) http://identifiers.org/clinvar/367034 ^@ NM_203447.3(DOCK8):c.5828C>T (p.Thr1943Ile) http://identifiers.org/clinvar/367035 ^@ NM_203447.3(DOCK8):c.6068+11A>C http://identifiers.org/clinvar/357726 ^@ NM_001142800.1(EYS):c.2641+8C>A http://identifiers.org/clinvar/367038 ^@ NM_004170.5(SLC1A1):c.149T>A (p.Phe50Tyr) http://identifiers.org/clinvar/367039 ^@ NM_004170.5(SLC1A1):c.165T>C (p.Pro55=) http://identifiers.org/clinvar/357773 ^@ NM_018368.3(LMBRD1):c.897C>T (p.Gly299=) http://identifiers.org/clinvar/362447 ^@ NM_000237.2(LPL):c.*1660G>A http://identifiers.org/clinvar/357730 ^@ NM_001142800.1(EYS):c.2260-7C>T http://identifiers.org/clinvar/367044 ^@ NM_004170.5(SLC1A1):c.441-5A>C http://identifiers.org/clinvar/367058 ^@ NM_004170.5(SLC1A1):c.1254C>G (p.Thr418=) http://identifiers.org/clinvar/357734 ^@ NM_001142800.1(EYS):c.2024-14_2024-13insT http://identifiers.org/clinvar/367060 ^@ NM_004170.5(SLC1A1):c.1483G>A (p.Glu495Lys) http://identifiers.org/clinvar/357737 ^@ NM_001142800.1(EYS):c.2000G>T (p.Arg667Leu) http://identifiers.org/clinvar/357738 ^@ NM_001142800.1(EYS):c.1950G>A (p.Ala650=) http://identifiers.org/clinvar/362448 ^@ NM_000237.2(LPL):c.*1742T>C http://identifiers.org/clinvar/367067 ^@ NM_004170.5(SLC1A1):c.*366T>C http://identifiers.org/clinvar/362454 ^@ NM_005144.4(HR):c.*1262G>C http://identifiers.org/clinvar/357740 ^@ NM_001142800.1(EYS):c.1460-5dupT http://identifiers.org/clinvar/357741 ^@ NM_001142800.1(EYS):c.1232A>G (p.His411Arg) http://identifiers.org/clinvar/362456 ^@ NM_005144.4(HR):c.*1150C>T http://identifiers.org/clinvar/357748 ^@ NM_001142800.1(EYS):c.334G>C (p.Val112Leu) http://identifiers.org/clinvar/357774 ^@ NM_018368.3(LMBRD1):c.802G>A (p.Ala268Thr) http://identifiers.org/clinvar/367069 ^@ NM_004170.5(SLC1A1):c.*438T>C http://identifiers.org/clinvar/367077 ^@ NM_004170.5(SLC1A1):c.*887T>C http://identifiers.org/clinvar/367079 ^@ NM_004170.5(SLC1A1):c.*987T>C http://identifiers.org/clinvar/357789 ^@ NM_018368.3(LMBRD1):c.-274A>G http://identifiers.org/clinvar/367080 ^@ NM_004170.5(SLC1A1):c.*1063A>G http://identifiers.org/clinvar/367081 ^@ NM_004170.5(SLC1A1):c.*1076A>C http://identifiers.org/clinvar/357752 ^@ NM_001142800.1(EYS):c.-200G>A http://identifiers.org/clinvar/367084 ^@ NM_004170.5(SLC1A1):c.*1250G>C http://identifiers.org/clinvar/357755 ^@ NM_001142800.1(EYS):c.-332-10C>T http://identifiers.org/clinvar/357757 ^@ NM_001142800.1(EYS):c.-350G>A http://identifiers.org/clinvar/357761 ^@ NM_001142800.1(EYS):c.-495T>C http://identifiers.org/clinvar/362458 ^@ NM_005144.4(HR):c.*894G>A http://identifiers.org/clinvar/357791 ^@ NM_001851.4(COL9A1):c.*266T>C http://identifiers.org/clinvar/367086 ^@ NM_004170.5(SLC1A1):c.*1361T>C http://identifiers.org/clinvar/357797 ^@ NM_001851.4(COL9A1):c.2721C>T (p.Thr907=) http://identifiers.org/clinvar/362459 ^@ NM_005144.4(HR):c.*820G>C http://identifiers.org/clinvar/357763 ^@ NM_001142800.1(EYS):c.-521C>T http://identifiers.org/clinvar/357767 ^@ NM_018368.3(LMBRD1):c.*77G>T http://identifiers.org/clinvar/357799 ^@ NM_001851.4(COL9A1):c.2622C>T (p.Asp874=) http://identifiers.org/clinvar/357801 ^@ NM_001851.4(COL9A1):c.2139G>C (p.Leu713Phe) http://identifiers.org/clinvar/357802 ^@ NM_001851.4(COL9A1):c.2112+8T>C http://identifiers.org/clinvar/362463 ^@ NM_005144.4(HR):c.*597C>T http://identifiers.org/clinvar/362485 ^@ NM_005144.4(HR):c.2862T>A (p.Ala954=) http://identifiers.org/clinvar/362488 ^@ NM_005144.4(HR):c.2617T>C (p.Leu873=) http://identifiers.org/clinvar/362490 ^@ NM_005144.4(HR):c.2566C>T (p.Arg856Trp) http://identifiers.org/clinvar/367089 ^@ NM_004170.5(SLC1A1):c.*1545T>A http://identifiers.org/clinvar/362493 ^@ NM_005144.4(HR):c.2507G>T (p.Arg836Leu) http://identifiers.org/clinvar/367090 ^@ NM_004170.5(SLC1A1):c.*1588A>G http://identifiers.org/clinvar/357771 ^@ NM_018368.3(LMBRD1):c.981-11A>T http://identifiers.org/clinvar/357775 ^@ NM_018368.3(LMBRD1):c.801C>T (p.Arg267=) http://identifiers.org/clinvar/357779 ^@ NM_018368.3(LMBRD1):c.115C>T (p.Arg39Trp) http://identifiers.org/clinvar/362495 ^@ NM_005144.4(HR):c.2370T>C (p.Asp790=) http://identifiers.org/clinvar/362501 ^@ NM_005144.4(HR):c.2211C>T (p.Pro737=) http://identifiers.org/clinvar/357785 ^@ NM_018368.3(LMBRD1):c.-103A>G http://identifiers.org/clinvar/357793 ^@ NM_001851.4(COL9A1):c.*242dupA http://identifiers.org/clinvar/362511 ^@ NM_005144.4(HR):c.1577T>C (p.Leu526Pro) http://identifiers.org/clinvar/367091 ^@ NM_004170.5(SLC1A1):c.*1597T>C http://identifiers.org/clinvar/367092 ^@ NM_004170.5(SLC1A1):c.*1603A>G http://identifiers.org/clinvar/357794 ^@ NM_001851.4(COL9A1):c.*229T>C http://identifiers.org/clinvar/362518 ^@ NM_005144.4(HR):c.1458A>G (p.Pro486=) http://identifiers.org/clinvar/362520 ^@ NM_005144.4(HR):c.1346T>G (p.Val449Gly) http://identifiers.org/clinvar/367097 ^@ NM_203447.3(DOCK8):c.*150A>T http://identifiers.org/clinvar/362526 ^@ NM_005144.4(HR):c.970C>T (p.Arg324Trp) http://identifiers.org/clinvar/367101 ^@ NM_203447.3(DOCK8):c.*603T>C http://identifiers.org/clinvar/357795 ^@ NM_001851.4(COL9A1):c.*174T>C http://identifiers.org/clinvar/357803 ^@ NM_001851.4(COL9A1):c.1999-3C>T http://identifiers.org/clinvar/367102 ^@ NM_203447.3(DOCK8):c.*701G>A http://identifiers.org/clinvar/357805 ^@ NM_001851.4(COL9A1):c.1720-11T>C http://identifiers.org/clinvar/357812 ^@ NM_001851.4(COL9A1):c.752C>T (p.Thr251Ile) http://identifiers.org/clinvar/367107 ^@ NM_203447.3(DOCK8):c.*990T>C http://identifiers.org/clinvar/367109 ^@ NM_004972.3(JAK2):c.-494C>T http://identifiers.org/clinvar/367112 ^@ NM_004972.3(JAK2):c.-423T>C http://identifiers.org/clinvar/362535 ^@ NM_005144.4(HR):c.-136C>T http://identifiers.org/clinvar/362538 ^@ NM_005144.4(HR):c.-411C>T http://identifiers.org/clinvar/362542 ^@ NM_005144.4(HR):c.-615T>G http://identifiers.org/clinvar/367113 ^@ NM_004972.3(JAK2):c.-397G>C http://identifiers.org/clinvar/362547 ^@ NM_003018.3(SFTPC):c.-67C>T http://identifiers.org/clinvar/367123 ^@ NM_004972.3(JAK2):c.592C>T (p.Leu198=) http://identifiers.org/clinvar/357824 ^@ NM_014989.5(RIMS1):c.-181G>A http://identifiers.org/clinvar/357831 ^@ NM_014989.5(RIMS1):c.594A>G (p.Thr198=) http://identifiers.org/clinvar/362548 ^@ NM_003018.3(SFTPC):c.-56_-55dupAA http://identifiers.org/clinvar/357834 ^@ NM_014989.5(RIMS1):c.913G>C (p.Val305Leu) http://identifiers.org/clinvar/367124 ^@ NM_004972.3(JAK2):c.726A>G (p.Gln242=) http://identifiers.org/clinvar/367127 ^@ NM_004972.3(JAK2):c.1929T>C (p.Asn643=) http://identifiers.org/clinvar/367137 ^@ NM_004972.3(JAK2):c.*34T>C http://identifiers.org/clinvar/367138 ^@ NM_004972.3(JAK2):c.*52A>G http://identifiers.org/clinvar/362554 ^@ NM_003018.3(SFTPC):c.176A>G (p.His59Arg) http://identifiers.org/clinvar/362567 ^@ NM_003018.3(SFTPC):c.*36A>G http://identifiers.org/clinvar/362575 ^@ NM_006129.4(BMP1):c.-15C>G http://identifiers.org/clinvar/367140 ^@ NM_004972.3(JAK2):c.*122G>A http://identifiers.org/clinvar/357839 ^@ NM_014989.5(RIMS1):c.1384C>A (p.Pro462Thr) http://identifiers.org/clinvar/367141 ^@ NM_004972.3(JAK2):c.*158G>C http://identifiers.org/clinvar/367143 ^@ NM_004972.3(JAK2):c.*389T>C http://identifiers.org/clinvar/357806 ^@ NM_001851.4(COL9A1):c.1611G>A (p.Thr537=) http://identifiers.org/clinvar/357807 ^@ NM_001851.4(COL9A1):c.1342-16dupT http://identifiers.org/clinvar/367144 ^@ NM_004972.3(JAK2):c.*560C>T http://identifiers.org/clinvar/367149 ^@ NM_004972.3(JAK2):c.*1185_*1187dupATC http://identifiers.org/clinvar/357810 ^@ NM_001851.4(COL9A1):c.936G>C (p.Lys312Asn) http://identifiers.org/clinvar/357815 ^@ NM_001851.4(COL9A1):c.299+10C>T http://identifiers.org/clinvar/367160 ^@ NM_004972.3(JAK2):c.*1390T>G http://identifiers.org/clinvar/367162 ^@ NM_000170.2(GLDC):c.*540C>T http://identifiers.org/clinvar/357821 ^@ NM_014989.5(RIMS1):c.-302C>T http://identifiers.org/clinvar/357823 ^@ NM_014989.5(RIMS1):c.-182_-180dupAGA http://identifiers.org/clinvar/357828 ^@ NM_014989.5(RIMS1):c.28C>T (p.Pro10Ser) http://identifiers.org/clinvar/357829 ^@ NM_014989.5(RIMS1):c.165-5C>G http://identifiers.org/clinvar/357832 ^@ NM_014989.5(RIMS1):c.672A>G (p.Thr224=) http://identifiers.org/clinvar/357837 ^@ NM_014989.5(RIMS1):c.1311G>A (p.Arg437=) http://identifiers.org/clinvar/362577 ^@ NM_006129.4(BMP1):c.402C>T (p.Val134=) http://identifiers.org/clinvar/362586 ^@ NM_006129.4(BMP1):c.1624G>A (p.Val542Ile) http://identifiers.org/clinvar/362589 ^@ NM_006129.4(BMP1):c.1770T>C (p.Ala590=) http://identifiers.org/clinvar/357843 ^@ NM_014989.5(RIMS1):c.2241T>C (p.Ser747=) http://identifiers.org/clinvar/357844 ^@ NM_014989.5(RIMS1):c.2294A>G (p.Gln765Arg) http://identifiers.org/clinvar/367163 ^@ NM_000170.2(GLDC):c.*505_*506delTT http://identifiers.org/clinvar/357841 ^@ NM_014989.5(RIMS1):c.1556C>T (p.Ser519Phe) http://identifiers.org/clinvar/367167 ^@ NM_000170.2(GLDC):c.*235T>G http://identifiers.org/clinvar/357842 ^@ NM_014989.5(RIMS1):c.1704T>C (p.Asp568=) http://identifiers.org/clinvar/357851 ^@ NM_014989.5(RIMS1):c.3399-4A>G http://identifiers.org/clinvar/357852 ^@ NM_014989.5(RIMS1):c.3465G>A (p.Ala1155=) http://identifiers.org/clinvar/367170 ^@ NM_000170.2(GLDC):c.*5C>G http://identifiers.org/clinvar/367172 ^@ NM_000170.2(GLDC):c.2947T>C (p.Trp983Arg) http://identifiers.org/clinvar/357853 ^@ NM_014989.5(RIMS1):c.3786G>A (p.Ser1262=) http://identifiers.org/clinvar/357855 ^@ NM_014989.5(RIMS1):c.3941T>C (p.Leu1314Pro) http://identifiers.org/clinvar/357858 ^@ NM_014989.5(RIMS1):c.4191G>A (p.Lys1397=) http://identifiers.org/clinvar/367178 ^@ NM_000170.2(GLDC):c.2650A>G (p.Arg884Gly) http://identifiers.org/clinvar/367181 ^@ NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) http://identifiers.org/clinvar/357860 ^@ NM_014989.5(RIMS1):c.4512A>G (p.Ile1504Met) http://identifiers.org/clinvar/357862 ^@ NM_014989.5(RIMS1):c.4618+20delT http://identifiers.org/clinvar/357870 ^@ NM_014989.5(RIMS1):c.*283A>G http://identifiers.org/clinvar/357872 ^@ NM_014989.5(RIMS1):c.*538C>T http://identifiers.org/clinvar/357875 ^@ NM_014989.5(RIMS1):c.*783G>A http://identifiers.org/clinvar/367205 ^@ NM_000170.2(GLDC):c.150G>A (p.Ser50=) http://identifiers.org/clinvar/357848 ^@ NM_014989.5(RIMS1):c.2792G>A (p.Arg931Lys) http://identifiers.org/clinvar/357854 ^@ NM_014989.5(RIMS1):c.3921G>T (p.Gly1307=) http://identifiers.org/clinvar/357856 ^@ NM_014989.5(RIMS1):c.4057A>G (p.Thr1353Ala) http://identifiers.org/clinvar/367212 ^@ NM_000170.2(GLDC):c.-186delC http://identifiers.org/clinvar/357861 ^@ NM_014989.5(RIMS1):c.4618+20dupT http://identifiers.org/clinvar/362593 ^@ NM_006129.4(BMP1):c.2205C>G (p.Leu735=) http://identifiers.org/clinvar/357885 ^@ NM_014989.5(RIMS1):c.*1458A>T http://identifiers.org/clinvar/357888 ^@ NM_014989.5(RIMS1):c.*1705C>T http://identifiers.org/clinvar/362595 ^@ NM_006129.4(BMP1):c.2429G>A (p.Gly810Glu) http://identifiers.org/clinvar/362598 ^@ NM_006129.4(BMP1):c.2450T>C (p.Val817Ala) http://identifiers.org/clinvar/362601 ^@ NM_006129.4(BMP1):c.2622C>T (p.Tyr874=) http://identifiers.org/clinvar/357863 ^@ NM_014989.5(RIMS1):c.4842A>G (p.Pro1614=) http://identifiers.org/clinvar/367215 ^@ NM_004817.3(TJP2):c.582C>T (p.Asp194=) http://identifiers.org/clinvar/367218 ^@ NM_004817.3(TJP2):c.1093G>A (p.Asp365Asn) http://identifiers.org/clinvar/357864 ^@ NM_014989.5(RIMS1):c.4860+15G>A http://identifiers.org/clinvar/357865 ^@ NM_014989.5(RIMS1):c.5076A>G (p.Ser1692=) http://identifiers.org/clinvar/367219 ^@ NM_004817.3(TJP2):c.1099C>T (p.Arg367Ter) http://identifiers.org/clinvar/367220 ^@ NM_004817.3(TJP2):c.1202A>G (p.Glu401Gly) http://identifiers.org/clinvar/367221 ^@ NM_004817.3(TJP2):c.1520+13G>A http://identifiers.org/clinvar/357869 ^@ NM_014989.5(RIMS1):c.*280C>T http://identifiers.org/clinvar/357876 ^@ NM_014989.5(RIMS1):c.*864G>T http://identifiers.org/clinvar/362607 ^@ NM_006129.4(BMP1):c.*145T>C http://identifiers.org/clinvar/367225 ^@ NM_004817.3(TJP2):c.2028A>G (p.Arg676=) http://identifiers.org/clinvar/362623 ^@ NM_006158.4(NEFL):c.*1342A>G http://identifiers.org/clinvar/357884 ^@ NM_014989.5(RIMS1):c.*1457dupT http://identifiers.org/clinvar/357886 ^@ NM_014989.5(RIMS1):c.*1494T>C http://identifiers.org/clinvar/362633 ^@ NM_006158.4(NEFL):c.*577T>C http://identifiers.org/clinvar/362635 ^@ NM_006158.4(NEFL):c.*486T>G http://identifiers.org/clinvar/367234 ^@ NM_004817.3(TJP2):c.2992-11G>T http://identifiers.org/clinvar/367240 ^@ NM_004817.3(TJP2):c.*620A>T http://identifiers.org/clinvar/362636 ^@ NM_006158.4(NEFL):c.*485A>G http://identifiers.org/clinvar/367242 ^@ NM_004817.3(TJP2):c.*695G>C http://identifiers.org/clinvar/357895 ^@ NM_014989.5(RIMS1):c.*2291C>T http://identifiers.org/clinvar/367247 ^@ NM_138691.2(TMC1):c.-329C>A http://identifiers.org/clinvar/367249 ^@ NM_138691.2(TMC1):c.-220C>T http://identifiers.org/clinvar/357889 ^@ NM_014989.5(RIMS1):c.*1935A>G http://identifiers.org/clinvar/357891 ^@ NM_014989.5(RIMS1):c.*1991T>G http://identifiers.org/clinvar/367250 ^@ NM_138691.2(TMC1):c.-219A>G http://identifiers.org/clinvar/367258 ^@ NM_138691.2(TMC1):c.1608C>T (p.Tyr536=) http://identifiers.org/clinvar/367259 ^@ NM_138691.2(TMC1):c.1609G>A (p.Val537Ile) http://identifiers.org/clinvar/367261 ^@ NM_138691.2(TMC1):c.2261-15_2261-14delCT http://identifiers.org/clinvar/367268 ^@ NM_017662.4(TRPM6):c.*2017G>A http://identifiers.org/clinvar/357893 ^@ NM_014989.5(RIMS1):c.*2125G>C http://identifiers.org/clinvar/367271 ^@ NM_017662.4(TRPM6):c.*1868C>T http://identifiers.org/clinvar/362637 ^@ NM_006158.4(NEFL):c.*426G>A http://identifiers.org/clinvar/367276 ^@ NM_017662.4(TRPM6):c.*913T>C http://identifiers.org/clinvar/367278 ^@ NM_017662.4(TRPM6):c.*843G>A http://identifiers.org/clinvar/357900 ^@ NM_012434.4(SLC17A5):c.*1566G>A http://identifiers.org/clinvar/367279 ^@ NM_017662.4(TRPM6):c.*804_*805delAT http://identifiers.org/clinvar/367280 ^@ NM_017662.4(TRPM6):c.*802A>T http://identifiers.org/clinvar/357896 ^@ NM_014989.5(RIMS1):c.*2386T>G http://identifiers.org/clinvar/367292 ^@ NM_017662.4(TRPM6):c.*156A>G http://identifiers.org/clinvar/357897 ^@ NM_012434.4(SLC17A5):c.*1696T>C http://identifiers.org/clinvar/357899 ^@ NM_012434.4(SLC17A5):c.*1587delT http://identifiers.org/clinvar/362640 ^@ NM_006158.4(NEFL):c.*244A>G http://identifiers.org/clinvar/367293 ^@ NM_017662.4(TRPM6):c.*108C>T http://identifiers.org/clinvar/362643 ^@ NM_006158.4(NEFL):c.*101A>G http://identifiers.org/clinvar/367297 ^@ NM_017662.4(TRPM6):c.5360G>T (p.Ser1787Ile) http://identifiers.org/clinvar/362644 ^@ NM_006158.4(NEFL):c.*82T>A http://identifiers.org/clinvar/357908 ^@ NM_012434.4(SLC17A5):c.*901C>T http://identifiers.org/clinvar/357901 ^@ NM_012434.4(SLC17A5):c.*1565C>T http://identifiers.org/clinvar/367299 ^@ NM_017662.4(TRPM6):c.5171C>T (p.Thr1724Ile) http://identifiers.org/clinvar/357907 ^@ NM_012434.4(SLC17A5):c.*971G>A http://identifiers.org/clinvar/357912 ^@ NM_012434.4(SLC17A5):c.*762C>T http://identifiers.org/clinvar/362647 ^@ NM_006158.4(NEFL):c.141G>A (p.Val47=) http://identifiers.org/clinvar/367301 ^@ NM_017662.4(TRPM6):c.4750A>G (p.Lys1584Glu) http://identifiers.org/clinvar/362657 ^@ NM_000825.3(GNRH1):c.-471T>C http://identifiers.org/clinvar/367302 ^@ NM_017662.4(TRPM6):c.4707A>T (p.Ala1569=) http://identifiers.org/clinvar/357909 ^@ NM_012434.4(SLC17A5):c.*837C>T http://identifiers.org/clinvar/367306 ^@ NM_017662.4(TRPM6):c.4177G>A (p.Val1393Ile) http://identifiers.org/clinvar/367307 ^@ NM_017662.4(TRPM6):c.3821A>G (p.Gln1274Arg) http://identifiers.org/clinvar/357914 ^@ NM_012434.4(SLC17A5):c.*595C>G http://identifiers.org/clinvar/367308 ^@ NM_017662.4(TRPM6):c.3798G>A (p.Glu1266=) http://identifiers.org/clinvar/357917 ^@ NM_012434.4(SLC17A5):c.*385C>G http://identifiers.org/clinvar/367311 ^@ NM_017662.4(TRPM6):c.2786G>T (p.Trp929Leu) http://identifiers.org/clinvar/367316 ^@ NM_017662.4(TRPM6):c.2428C>T (p.Leu810=) http://identifiers.org/clinvar/362658 ^@ NM_000825.3(GNRH1):c.-665C>A http://identifiers.org/clinvar/367318 ^@ NM_017662.4(TRPM6):c.2124T>G (p.Leu708=) http://identifiers.org/clinvar/362661 ^@ NM_000825.3(GNRH1):c.-1015delA http://identifiers.org/clinvar/362660 ^@ NM_000825.3(GNRH1):c.-1015dupA http://identifiers.org/clinvar/357910 ^@ NM_012434.4(SLC17A5):c.*817G>A http://identifiers.org/clinvar/367320 ^@ NM_017662.4(TRPM6):c.1851G>A (p.Leu617=) http://identifiers.org/clinvar/357920 ^@ NM_012434.4(SLC17A5):c.1432G>A (p.Ala478Thr) http://identifiers.org/clinvar/367321 ^@ NM_017662.4(TRPM6):c.1647A>G (p.Arg549=) http://identifiers.org/clinvar/367324 ^@ NM_017662.4(TRPM6):c.1309C>T (p.Pro437Ser) http://identifiers.org/clinvar/367334 ^@ NM_017662.4(TRPM6):c.-163A>G http://identifiers.org/clinvar/357921 ^@ NM_012434.4(SLC17A5):c.1358T>G (p.Val453Gly) http://identifiers.org/clinvar/357929 ^@ NM_004415.3(DSP):c.-260A>G http://identifiers.org/clinvar/357938 ^@ NM_004415.3(DSP):c.913A>G (p.Ile305Val) http://identifiers.org/clinvar/357943 ^@ NM_004415.3(DSP):c.2377G>A (p.Glu793Lys) http://identifiers.org/clinvar/362662 ^@ NM_000742.3(CHRNA2):c.*1849A>G http://identifiers.org/clinvar/367338 ^@ NM_033305.2(VPS13A):c.-181G>A http://identifiers.org/clinvar/362664 ^@ NM_000742.3(CHRNA2):c.*1809T>C http://identifiers.org/clinvar/367342 ^@ NM_033305.2(VPS13A):c.101-14T>G http://identifiers.org/clinvar/362665 ^@ NM_000742.3(CHRNA2):c.*1701C>A http://identifiers.org/clinvar/357987 ^@ NM_004999.3(MYO6):c.-49C>G http://identifiers.org/clinvar/357946 ^@ NM_004415.3(DSP):c.2878-4G>A http://identifiers.org/clinvar/357947 ^@ NM_004415.3(DSP):c.3146C>T (p.Ser1049Leu) http://identifiers.org/clinvar/367349 ^@ NM_033305.2(VPS13A):c.989+28delT http://identifiers.org/clinvar/357948 ^@ NM_004415.3(DSP):c.3147G>A (p.Ser1049=) http://identifiers.org/clinvar/357951 ^@ NM_004415.3(DSP):c.4071G>C (p.Glu1357Asp) http://identifiers.org/clinvar/357953 ^@ NM_004415.3(DSP):c.4679A>G (p.Gln1560Arg) http://identifiers.org/clinvar/357959 ^@ NM_004415.3(DSP):c.5593A>T (p.Asn1865Tyr) http://identifiers.org/clinvar/367352 ^@ NM_033305.2(VPS13A):c.1303T>C (p.Trp435Arg) http://identifiers.org/clinvar/357961 ^@ NM_004415.3(DSP):c.6038G>A (p.Arg2013Gln) http://identifiers.org/clinvar/357913 ^@ NM_012434.4(SLC17A5):c.*666C>T http://identifiers.org/clinvar/367357 ^@ NM_033305.2(VPS13A):c.1758T>C (p.Ala586=) http://identifiers.org/clinvar/357915 ^@ NM_012434.4(SLC17A5):c.*560G>A http://identifiers.org/clinvar/367358 ^@ NM_033305.2(VPS13A):c.1792G>C (p.Val598Leu) http://identifiers.org/clinvar/367361 ^@ NM_033305.2(VPS13A):c.2124A>G (p.Ser708=) http://identifiers.org/clinvar/362668 ^@ NM_000742.3(CHRNA2):c.*1403C>G http://identifiers.org/clinvar/367364 ^@ NM_033305.2(VPS13A):c.2201G>A (p.Ser734Asn) http://identifiers.org/clinvar/362670 ^@ NM_000742.3(CHRNA2):c.*1392A>G http://identifiers.org/clinvar/362688 ^@ NM_000742.3(CHRNA2):c.*386G>T http://identifiers.org/clinvar/362691 ^@ NM_000742.3(CHRNA2):c.*108C>T http://identifiers.org/clinvar/367367 ^@ NM_033305.2(VPS13A):c.2440A>G (p.Thr814Ala) http://identifiers.org/clinvar/367369 ^@ NM_033305.2(VPS13A):c.2718A>G (p.Val906=) http://identifiers.org/clinvar/362693 ^@ NM_000742.3(CHRNA2):c.1530C>T (p.Ile510=) http://identifiers.org/clinvar/367370 ^@ NM_033305.2(VPS13A):c.2964+13A>G http://identifiers.org/clinvar/357918 ^@ NM_012434.4(SLC17A5):c.*373G>A http://identifiers.org/clinvar/357962 ^@ NM_004415.3(DSP):c.6935T>C (p.Val2312Ala) http://identifiers.org/clinvar/357965 ^@ NM_004415.3(DSP):c.7883T>C (p.Leu2628Pro) http://identifiers.org/clinvar/357993 ^@ NM_004999.3(MYO6):c.1160G>A (p.Arg387Gln) http://identifiers.org/clinvar/367374 ^@ NM_033305.2(VPS13A):c.3282C>T (p.Asn1094=) http://identifiers.org/clinvar/357922 ^@ NM_012434.4(SLC17A5):c.1272C>A (p.Ile424=) http://identifiers.org/clinvar/367376 ^@ NM_033305.2(VPS13A):c.3645C>A (p.Ala1215=) http://identifiers.org/clinvar/367377 ^@ NM_033305.2(VPS13A):c.3706C>T (p.Leu1236=) http://identifiers.org/clinvar/357995 ^@ NM_004999.3(MYO6):c.1199G>A (p.Gly400Glu) http://identifiers.org/clinvar/367380 ^@ NM_033305.2(VPS13A):c.3961-6delT http://identifiers.org/clinvar/357971 ^@ NM_004415.3(DSP):c.*112A>G http://identifiers.org/clinvar/357974 ^@ NM_004415.3(DSP):c.*276_*278delCTC http://identifiers.org/clinvar/357981 ^@ NM_004415.3(DSP):c.*577G>A http://identifiers.org/clinvar/357996 ^@ NM_004999.3(MYO6):c.2284A>G (p.Lys762Glu) http://identifiers.org/clinvar/362703 ^@ NM_000742.3(CHRNA2):c.-137+11T>C http://identifiers.org/clinvar/362711 ^@ NM_000742.3(CHRNA2):c.-537C>T http://identifiers.org/clinvar/367381 ^@ NM_033305.2(VPS13A):c.4041C>T (p.Ala1347=) http://identifiers.org/clinvar/362712 ^@ NM_000742.3(CHRNA2):c.-544C>T http://identifiers.org/clinvar/367382 ^@ NM_033305.2(VPS13A):c.4390C>A (p.His1464Asn) http://identifiers.org/clinvar/367383 ^@ NM_033305.2(VPS13A):c.4469G>A (p.Arg1490Lys) http://identifiers.org/clinvar/357927 ^@ NM_012434.4(SLC17A5):c.-86A>T http://identifiers.org/clinvar/357928 ^@ NM_012434.4(SLC17A5):c.-107C>A http://identifiers.org/clinvar/357931 ^@ NM_004415.3(DSP):c.-190G>T http://identifiers.org/clinvar/357932 ^@ NM_004415.3(DSP):c.-179T>C http://identifiers.org/clinvar/362720 ^@ NM_000742.3(CHRNA2):c.-575_-574insAT http://identifiers.org/clinvar/367387 ^@ NM_033305.2(VPS13A):c.4979C>G (p.Thr1660Ser) http://identifiers.org/clinvar/362725 ^@ NM_000742.3(CHRNA2):c.-580_-579delGT http://identifiers.org/clinvar/362722 ^@ NM_000742.3(CHRNA2):c.-580_-579dupGT http://identifiers.org/clinvar/362739 ^@ NM_001017420.2(ESCO2):c.1109_1111delAAA (p.Lys370del) http://identifiers.org/clinvar/367396 ^@ NM_033305.2(VPS13A):c.6027C>T (p.Tyr2009=) http://identifiers.org/clinvar/362741 ^@ NM_001017420.2(ESCO2):c.1493A>C (p.Lys498Thr) http://identifiers.org/clinvar/362743 ^@ NM_001017420.2(ESCO2):c.1548G>A (p.Thr516=) http://identifiers.org/clinvar/357937 ^@ NM_004415.3(DSP):c.727-11T>C http://identifiers.org/clinvar/357984 ^@ NM_004999.3(MYO6):c.-261G>A http://identifiers.org/clinvar/357985 ^@ NM_004999.3(MYO6):c.-225G>C http://identifiers.org/clinvar/357997 ^@ NM_004999.3(MYO6):c.2672C>T (p.Thr891Met) http://identifiers.org/clinvar/357999 ^@ NM_004999.3(MYO6):c.2818C>T (p.Arg940Cys) http://identifiers.org/clinvar/357949 ^@ NM_004415.3(DSP):c.3389A>G (p.Asp1130Gly) http://identifiers.org/clinvar/367397 ^@ NM_033305.2(VPS13A):c.6074A>G (p.Asn2025Ser) http://identifiers.org/clinvar/367408 ^@ NM_033305.2(VPS13A):c.7096C>T (p.Pro2366Ser) http://identifiers.org/clinvar/357952 ^@ NM_004415.3(DSP):c.4373G>A (p.Arg1458Gln) http://identifiers.org/clinvar/357955 ^@ NM_004415.3(DSP):c.5064G>A (p.Ala1688=) http://identifiers.org/clinvar/362748 ^@ NM_001017420.2(ESCO2):c.*76_*79dupAATA http://identifiers.org/clinvar/367409 ^@ NM_033305.2(VPS13A):c.7155G>A (p.Glu2385=) http://identifiers.org/clinvar/357956 ^@ NM_004415.3(DSP):c.5217C>T (p.Ser1739=) http://identifiers.org/clinvar/367412 ^@ NM_033305.2(VPS13A):c.7237A>G (p.Thr2413Ala) http://identifiers.org/clinvar/358005 ^@ NM_004999.3(MYO6):c.*459A>G http://identifiers.org/clinvar/358007 ^@ NM_004999.3(MYO6):c.*650G>C http://identifiers.org/clinvar/362752 ^@ NM_001017420.2(ESCO2):c.*124_*129dupACACAC http://identifiers.org/clinvar/367414 ^@ NM_033305.2(VPS13A):c.7490G>A (p.Arg2497His) http://identifiers.org/clinvar/362762 ^@ NM_001017420.2(ESCO2):c.*261T>A http://identifiers.org/clinvar/357960 ^@ NM_004415.3(DSP):c.5820T>C (p.Asp1940=) http://identifiers.org/clinvar/357990 ^@ NM_004999.3(MYO6):c.564C>T (p.Leu188=) http://identifiers.org/clinvar/357991 ^@ NM_004999.3(MYO6):c.605A>G (p.Asn202Ser) http://identifiers.org/clinvar/357963 ^@ NM_004415.3(DSP):c.6968T>C (p.Ile2323Thr) http://identifiers.org/clinvar/357967 ^@ NM_004415.3(DSP):c.8507G>A (p.Gly2836Glu) http://identifiers.org/clinvar/367415 ^@ NM_033305.2(VPS13A):c.7715A>G (p.Lys2572Arg) http://identifiers.org/clinvar/367418 ^@ NM_033305.2(VPS13A):c.8140A>C (p.Arg2714=) http://identifiers.org/clinvar/357970 ^@ NM_004415.3(DSP):c.*62A>T http://identifiers.org/clinvar/357976 ^@ NM_004415.3(DSP):c.*300C>A http://identifiers.org/clinvar/357977 ^@ NM_004415.3(DSP):c.*305C>A http://identifiers.org/clinvar/357982 ^@ NM_004415.3(DSP):c.*598G>T http://identifiers.org/clinvar/367425 ^@ NM_033305.2(VPS13A):c.8676C>T (p.Ile2892=) http://identifiers.org/clinvar/362777 ^@ NM_000553.4(WRN):c.-519C>A http://identifiers.org/clinvar/367427 ^@ NM_033305.2(VPS13A):c.9027A>G (p.Pro3009=) http://identifiers.org/clinvar/367432 ^@ NM_033305.2(VPS13A):c.9382T>C (p.Leu3128=) http://identifiers.org/clinvar/367433 ^@ NM_033305.2(VPS13A):c.9400-15A>C http://identifiers.org/clinvar/362786 ^@ NM_000553.4(WRN):c.-278G>C http://identifiers.org/clinvar/367437 ^@ NM_033305.2(VPS13A):c.*222G>A http://identifiers.org/clinvar/358011 ^@ NM_004999.3(MYO6):c.*1181G>A http://identifiers.org/clinvar/357998 ^@ NM_004999.3(MYO6):c.2787T>G (p.Ile929Met) http://identifiers.org/clinvar/362789 ^@ NM_000553.4(WRN):c.-213G>A http://identifiers.org/clinvar/358002 ^@ NM_004999.3(MYO6):c.*311T>C http://identifiers.org/clinvar/362793 ^@ NM_000553.4(WRN):c.-152G>A http://identifiers.org/clinvar/358017 ^@ NM_004999.3(MYO6):c.*1528C>T http://identifiers.org/clinvar/358019 ^@ NM_004999.3(MYO6):c.*1627A>G http://identifiers.org/clinvar/358006 ^@ NM_004999.3(MYO6):c.*511G>A http://identifiers.org/clinvar/358009 ^@ NM_004999.3(MYO6):c.*1030T>C http://identifiers.org/clinvar/358020 ^@ NM_004999.3(MYO6):c.*1703C>T http://identifiers.org/clinvar/367439 ^@ NM_033305.2(VPS13A):c.*279A>T http://identifiers.org/clinvar/367440 ^@ NM_033305.2(VPS13A):c.*481G>A http://identifiers.org/clinvar/358023 ^@ NM_004999.3(MYO6):c.*1847A>G http://identifiers.org/clinvar/358027 ^@ NM_004999.3(MYO6):c.*2027T>C http://identifiers.org/clinvar/367445 ^@ NM_033305.2(VPS13A):c.*1024C>T http://identifiers.org/clinvar/367455 ^@ NM_058179.3(PSAT1):c.367A>G (p.Ile123Val) http://identifiers.org/clinvar/367463 ^@ NM_058179.3(PSAT1):c.*252G>C http://identifiers.org/clinvar/358026 ^@ NM_004999.3(MYO6):c.*2029delT http://identifiers.org/clinvar/358038 ^@ NM_004999.3(MYO6):c.*3029A>G http://identifiers.org/clinvar/367465 ^@ NM_058179.3(PSAT1):c.*592A>C http://identifiers.org/clinvar/367467 ^@ NM_058179.3(PSAT1):c.*670T>G http://identifiers.org/clinvar/358042 ^@ NM_004999.3(MYO6):c.*3447A>C http://identifiers.org/clinvar/358050 ^@ NM_004999.3(MYO6):c.*3874G>A http://identifiers.org/clinvar/362797 ^@ NM_000553.4(WRN):c.839+11delA http://identifiers.org/clinvar/367477 ^@ NM_001698.2(AUH):c.84G>T (p.Ala28=) http://identifiers.org/clinvar/362803 ^@ NM_000553.4(WRN):c.1981+11A>G http://identifiers.org/clinvar/367480 ^@ NM_004560.3(ROR2):c.*927C>T http://identifiers.org/clinvar/367481 ^@ NM_004560.3(ROR2):c.*886G>T http://identifiers.org/clinvar/358013 ^@ NM_004999.3(MYO6):c.*1284T>G http://identifiers.org/clinvar/358030 ^@ NM_004999.3(MYO6):c.*2535_*2538dupACCT http://identifiers.org/clinvar/358032 ^@ NM_004999.3(MYO6):c.*2716A>G http://identifiers.org/clinvar/362804 ^@ NM_000553.4(WRN):c.2088+6C>T http://identifiers.org/clinvar/358033 ^@ NM_004999.3(MYO6):c.*2759C>A http://identifiers.org/clinvar/358035 ^@ NM_004999.3(MYO6):c.*2881_*2882delTT http://identifiers.org/clinvar/367489 ^@ NM_004560.3(ROR2):c.*487C>G http://identifiers.org/clinvar/367491 ^@ NM_004560.3(ROR2):c.*229C>T http://identifiers.org/clinvar/358036 ^@ NM_004999.3(MYO6):c.*2910T>A http://identifiers.org/clinvar/358040 ^@ NM_004999.3(MYO6):c.*3301delG http://identifiers.org/clinvar/358045 ^@ NM_004999.3(MYO6):c.*3524A>G http://identifiers.org/clinvar/367494 ^@ NM_004560.3(ROR2):c.*135G>T http://identifiers.org/clinvar/362807 ^@ NM_000553.4(WRN):c.2529G>C (p.Lys843Asn) http://identifiers.org/clinvar/367499 ^@ NM_004560.3(ROR2):c.2190C>T (p.Asn730=) http://identifiers.org/clinvar/367504 ^@ NM_004560.3(ROR2):c.1491G>A (p.Pro497=) http://identifiers.org/clinvar/367505 ^@ NM_004560.3(ROR2):c.1448G>A (p.Arg483Gln) http://identifiers.org/clinvar/358060 ^@ NM_004999.3(MYO6):c.*4427_*4430delAATT http://identifiers.org/clinvar/358062 ^@ NM_004999.3(MYO6):c.*4464C>T http://identifiers.org/clinvar/358068 ^@ NM_181714.3(LCA5):c.*1573A>G http://identifiers.org/clinvar/358046 ^@ NM_004999.3(MYO6):c.*3546A>G http://identifiers.org/clinvar/358047 ^@ NM_004999.3(MYO6):c.*3632T>G http://identifiers.org/clinvar/362811 ^@ NM_000553.4(WRN):c.3078A>G (p.Gly1026=) http://identifiers.org/clinvar/358069 ^@ NM_181714.3(LCA5):c.*1559T>C http://identifiers.org/clinvar/358070 ^@ NM_181714.3(LCA5):c.*1543T>C http://identifiers.org/clinvar/358071 ^@ NM_181714.3(LCA5):c.*1528G>A http://identifiers.org/clinvar/362817 ^@ NM_000553.4(WRN):c.*194C>T http://identifiers.org/clinvar/358072 ^@ NM_181714.3(LCA5):c.*1316C>T http://identifiers.org/clinvar/367508 ^@ NM_004560.3(ROR2):c.1234A>G (p.Ile412Val) http://identifiers.org/clinvar/367509 ^@ NM_004560.3(ROR2):c.1184-10T>C http://identifiers.org/clinvar/358085 ^@ NM_181714.3(LCA5):c.*223A>G http://identifiers.org/clinvar/358087 ^@ NM_181714.3(LCA5):c.*22dupT http://identifiers.org/clinvar/358088 ^@ NM_181714.3(LCA5):c.2028C>T (p.Asp676=) http://identifiers.org/clinvar/367515 ^@ NM_004560.3(ROR2):c.702C>T (p.Phe234=) http://identifiers.org/clinvar/367517 ^@ NM_004560.3(ROR2):c.276C>T (p.Asn92=) http://identifiers.org/clinvar/358091 ^@ NM_181714.3(LCA5):c.1746C>T (p.Asn582=) http://identifiers.org/clinvar/358099 ^@ NM_181714.3(LCA5):c.1097T>C (p.Leu366Ser) http://identifiers.org/clinvar/358106 ^@ NM_181714.3(LCA5):c.211A>G (p.Lys71Glu) http://identifiers.org/clinvar/358053 ^@ NM_004999.3(MYO6):c.*3973A>G http://identifiers.org/clinvar/367524 ^@ NM_004560.3(ROR2):c.-135G>C http://identifiers.org/clinvar/358054 ^@ NM_004999.3(MYO6):c.*4095G>A http://identifiers.org/clinvar/358057 ^@ NM_004999.3(MYO6):c.*4283A>G http://identifiers.org/clinvar/367533 ^@ NM_006415.3(SPTLC1):c.*631G>C http://identifiers.org/clinvar/367534 ^@ NM_006415.3(SPTLC1):c.*605T>C http://identifiers.org/clinvar/358058 ^@ NM_004999.3(MYO6):c.*4283A>T http://identifiers.org/clinvar/367536 ^@ NM_006415.3(SPTLC1):c.*483A>G http://identifiers.org/clinvar/362831 ^@ NM_000349.2(STAR):c.*965_*967dupAAA http://identifiers.org/clinvar/362837 ^@ NM_000349.2(STAR):c.*796A>G http://identifiers.org/clinvar/358059 ^@ NM_004999.3(MYO6):c.*4288G>A http://identifiers.org/clinvar/367540 ^@ NM_006415.3(SPTLC1):c.*190A>C http://identifiers.org/clinvar/358108 ^@ NM_181714.3(LCA5):c.-39T>C http://identifiers.org/clinvar/367547 ^@ NM_006415.3(SPTLC1):c.1136+12A>G http://identifiers.org/clinvar/367551 ^@ NM_006415.3(SPTLC1):c.387C>T (p.Gly129=) http://identifiers.org/clinvar/367557 ^@ NM_000507.3(FBP1):c.697T>C (p.Phe233Leu) http://identifiers.org/clinvar/358109 ^@ NM_181714.3(LCA5):c.-62A>G http://identifiers.org/clinvar/358110 ^@ NM_181714.3(LCA5):c.-298+13T>G http://identifiers.org/clinvar/367559 ^@ NM_000507.3(FBP1):c.14C>A (p.Ala5Glu) http://identifiers.org/clinvar/367563 ^@ NM_000507.3(FBP1):c.-194C>T http://identifiers.org/clinvar/358117 ^@ NM_181714.3(LCA5):c.-569C>T http://identifiers.org/clinvar/358122 ^@ NM_022726.3(ELOVL4):c.*1568A>G http://identifiers.org/clinvar/358126 ^@ NM_022726.3(ELOVL4):c.*1066T>G http://identifiers.org/clinvar/367573 ^@ NM_000136.2(FANCC):c.*2271G>A http://identifiers.org/clinvar/358131 ^@ NM_022726.3(ELOVL4):c.*794_*795delAT http://identifiers.org/clinvar/367584 ^@ NM_000136.2(FANCC):c.*1495T>G http://identifiers.org/clinvar/367592 ^@ NM_000136.2(FANCC):c.*1045C>T http://identifiers.org/clinvar/367597 ^@ NM_000136.2(FANCC):c.*667C>T http://identifiers.org/clinvar/358136 ^@ NM_022726.3(ELOVL4):c.*373A>T http://identifiers.org/clinvar/358139 ^@ NM_022726.3(ELOVL4):c.*238_*242delAGCAA http://identifiers.org/clinvar/367598 ^@ NM_000136.2(FANCC):c.*604_*605delGT http://identifiers.org/clinvar/367600 ^@ NM_000136.2(FANCC):c.*576C>T http://identifiers.org/clinvar/358140 ^@ NM_022726.3(ELOVL4):c.*240C>T http://identifiers.org/clinvar/358143 ^@ NM_022726.3(ELOVL4):c.*125C>A http://identifiers.org/clinvar/358145 ^@ NM_022726.3(ELOVL4):c.*8T>C http://identifiers.org/clinvar/358146 ^@ NM_022726.3(ELOVL4):c.699G>A (p.Thr233=) http://identifiers.org/clinvar/358064 ^@ NM_004999.3(MYO6):c.*4503_*4506dupAAAT http://identifiers.org/clinvar/358147 ^@ NM_022726.3(ELOVL4):c.502T>C (p.Leu168=) http://identifiers.org/clinvar/358149 ^@ NM_022726.3(ELOVL4):c.-35C>T http://identifiers.org/clinvar/358156 ^@ NM_022726.3(ELOVL4):c.-236C>T http://identifiers.org/clinvar/362838 ^@ NM_000349.2(STAR):c.*556A>G http://identifiers.org/clinvar/358157 ^@ NM_022726.3(ELOVL4):c.-236C>G http://identifiers.org/clinvar/367602 ^@ NM_000136.2(FANCC):c.*359A>G http://identifiers.org/clinvar/367604 ^@ NM_000136.2(FANCC):c.*254G>A http://identifiers.org/clinvar/358162 ^@ NM_022726.3(ELOVL4):c.-268T>G http://identifiers.org/clinvar/358164 ^@ NM_022726.3(ELOVL4):c.-301A>C http://identifiers.org/clinvar/358165 ^@ NM_022726.3(ELOVL4):c.-311C>G http://identifiers.org/clinvar/367607 ^@ NM_000136.2(FANCC):c.*116A>C http://identifiers.org/clinvar/367608 ^@ NM_000136.2(FANCC):c.*97dupG http://identifiers.org/clinvar/367611 ^@ NM_000136.2(FANCC):c.-155A>C http://identifiers.org/clinvar/362848 ^@ NM_000349.2(STAR):c.178+9T>C http://identifiers.org/clinvar/362852 ^@ NM_000349.2(STAR):c.-249C>A http://identifiers.org/clinvar/362855 ^@ NM_023110.2(FGFR1):c.*2407C>T http://identifiers.org/clinvar/362857 ^@ NM_023110.2(FGFR1):c.*2188T>C http://identifiers.org/clinvar/362858 ^@ NM_023110.2(FGFR1):c.*2104delA http://identifiers.org/clinvar/367613 ^@ NM_000136.2(FANCC):c.-225C>T http://identifiers.org/clinvar/367622 ^@ NM_000264.3(PTCH1):c.*3080G>T http://identifiers.org/clinvar/362862 ^@ NM_023110.2(FGFR1):c.*1822A>C http://identifiers.org/clinvar/362865 ^@ NM_023110.2(FGFR1):c.*1616T>G http://identifiers.org/clinvar/358166 ^@ NM_022726.3(ELOVL4):c.-317G>T http://identifiers.org/clinvar/358169 ^@ NM_183050.3(BCKDHB):c.63G>T (p.Gly21=) http://identifiers.org/clinvar/367623 ^@ NM_000264.3(PTCH1):c.*3030A>G http://identifiers.org/clinvar/367627 ^@ NM_000264.3(PTCH1):c.*2276A>T http://identifiers.org/clinvar/358170 ^@ NM_183050.3(BCKDHB):c.245A>G (p.Asp82Gly) http://identifiers.org/clinvar/358175 ^@ NM_183050.3(BCKDHB):c.*236G>A http://identifiers.org/clinvar/358082 ^@ NM_181714.3(LCA5):c.*640T>C http://identifiers.org/clinvar/367629 ^@ NM_000264.3(PTCH1):c.*2175G>A http://identifiers.org/clinvar/358084 ^@ NM_181714.3(LCA5):c.*473T>C http://identifiers.org/clinvar/362866 ^@ NM_023110.2(FGFR1):c.*1560C>T http://identifiers.org/clinvar/362870 ^@ NM_023110.2(FGFR1):c.*1218T>C http://identifiers.org/clinvar/362873 ^@ NM_023110.2(FGFR1):c.*1052C>T http://identifiers.org/clinvar/362876 ^@ NM_023110.2(FGFR1):c.*958G>A http://identifiers.org/clinvar/362883 ^@ NM_023110.2(FGFR1):c.*494A>G http://identifiers.org/clinvar/367630 ^@ NM_000264.3(PTCH1):c.*2146A>G http://identifiers.org/clinvar/367632 ^@ NM_000264.3(PTCH1):c.*1905C>G http://identifiers.org/clinvar/367634 ^@ NM_000264.3(PTCH1):c.*1904T>C http://identifiers.org/clinvar/367639 ^@ NM_000264.3(PTCH1):c.*1708C>T http://identifiers.org/clinvar/358195 ^@ NM_183050.3(BCKDHB):c.*922A>G http://identifiers.org/clinvar/358201 ^@ NM_183050.3(BCKDHB):c.*1239dupT http://identifiers.org/clinvar/358211 ^@ NM_183050.3(BCKDHB):c.*2224dupT http://identifiers.org/clinvar/358216 ^@ NM_006416.4(SLC35A1):c.258G>A (p.Lys86=) http://identifiers.org/clinvar/358217 ^@ NM_006416.4(SLC35A1):c.507+8A>G http://identifiers.org/clinvar/358222 ^@ NM_006416.4(SLC35A1):c.*333delG http://identifiers.org/clinvar/358225 ^@ NM_006416.4(SLC35A1):c.*521_*522insAATG http://identifiers.org/clinvar/358226 ^@ NM_006416.4(SLC35A1):c.*523_*524delGT http://identifiers.org/clinvar/358231 ^@ NM_020320.4(RARS2):c.1511+3A>G http://identifiers.org/clinvar/358086 ^@ NM_181714.3(LCA5):c.*35delA http://identifiers.org/clinvar/367654 ^@ NM_000264.3(PTCH1):c.*748_*749insATTT http://identifiers.org/clinvar/358090 ^@ NM_181714.3(LCA5):c.1769A>G (p.Asp590Gly) http://identifiers.org/clinvar/367656 ^@ NM_000264.3(PTCH1):c.*664dupT http://identifiers.org/clinvar/362885 ^@ NM_023110.2(FGFR1):c.*313T>C http://identifiers.org/clinvar/362891 ^@ NM_023110.2(FGFR1):c.2465G>A (p.Arg822His) http://identifiers.org/clinvar/362896 ^@ NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) http://identifiers.org/clinvar/362898 ^@ NM_023110.2(FGFR1):c.787G>A (p.Ala263Thr) http://identifiers.org/clinvar/362902 ^@ NM_023110.2(FGFR1):c.549C>T (p.Thr183=) http://identifiers.org/clinvar/362903 ^@ NM_023110.2(FGFR1):c.449-7C>T http://identifiers.org/clinvar/362904 ^@ NM_023110.2(FGFR1):c.449-9C>G http://identifiers.org/clinvar/362907 ^@ NM_023110.2(FGFR1):c.359-4A>G http://identifiers.org/clinvar/362908 ^@ NM_023110.2(FGFR1):c.359-13C>G http://identifiers.org/clinvar/367665 ^@ NM_000264.3(PTCH1):c.3765C>A (p.Ile1255=) http://identifiers.org/clinvar/367669 ^@ NM_000264.3(PTCH1):c.1808G>A (p.Arg603His) http://identifiers.org/clinvar/358098 ^@ NM_181714.3(LCA5):c.1099-12A>G http://identifiers.org/clinvar/358233 ^@ NM_020320.4(RARS2):c.1036-9C>T http://identifiers.org/clinvar/358101 ^@ NM_181714.3(LCA5):c.1049C>T (p.Thr350Ile) http://identifiers.org/clinvar/367672 ^@ NM_000264.3(PTCH1):c.1503+12G>A http://identifiers.org/clinvar/358104 ^@ NM_181714.3(LCA5):c.401A>C (p.Lys134Thr) http://identifiers.org/clinvar/367673 ^@ NM_000264.3(PTCH1):c.1480T>G (p.Ser494Ala) http://identifiers.org/clinvar/358105 ^@ NM_181714.3(LCA5):c.281G>A (p.Arg94Gln) http://identifiers.org/clinvar/367682 ^@ NM_000197.1(HSD17B3):c.199G>A (p.Glu67Lys) http://identifiers.org/clinvar/358107 ^@ NM_181714.3(LCA5):c.191-3T>A http://identifiers.org/clinvar/358111 ^@ NM_181714.3(LCA5):c.-355G>A http://identifiers.org/clinvar/358114 ^@ NM_181714.3(LCA5):c.-459A>T http://identifiers.org/clinvar/367683 ^@ NM_000197.1(HSD17B3):c.195G>A (p.Ser65=) http://identifiers.org/clinvar/358236 ^@ NM_020320.4(RARS2):c.754T>A (p.Tyr252Asn) http://identifiers.org/clinvar/364052 ^@ NM_014290.2(TDRD7):c.-153dupG http://identifiers.org/clinvar/358238 ^@ NM_020320.4(RARS2):c.245G>A (p.Ser82Asn) http://identifiers.org/clinvar/358244 ^@ NM_014165.3(NDUFAF4):c.*1671T>C http://identifiers.org/clinvar/358120 ^@ NM_022726.3(ELOVL4):c.*1795T>A http://identifiers.org/clinvar/364054 ^@ NM_014290.2(TDRD7):c.-133C>G http://identifiers.org/clinvar/358134 ^@ NM_022726.3(ELOVL4):c.*509C>T http://identifiers.org/clinvar/362909 ^@ NM_023110.2(FGFR1):c.273C>T (p.Ser91=) http://identifiers.org/clinvar/358245 ^@ NM_014165.3(NDUFAF4):c.*1642T>G http://identifiers.org/clinvar/362921 ^@ NM_023110.2(FGFR1):c.-853G>C http://identifiers.org/clinvar/362922 ^@ NM_023110.2(FGFR1):c.-881G>A http://identifiers.org/clinvar/358135 ^@ NM_022726.3(ELOVL4):c.*377T>A http://identifiers.org/clinvar/358137 ^@ NM_022726.3(ELOVL4):c.*361C>T http://identifiers.org/clinvar/358246 ^@ NM_014165.3(NDUFAF4):c.*1487A>G http://identifiers.org/clinvar/364057 ^@ NM_014290.2(TDRD7):c.-42G>C http://identifiers.org/clinvar/358142 ^@ NM_022726.3(ELOVL4):c.*142G>C http://identifiers.org/clinvar/364058 ^@ NM_014290.2(TDRD7):c.54T>C (p.His18=) http://identifiers.org/clinvar/364060 ^@ NM_014290.2(TDRD7):c.563+14G>A http://identifiers.org/clinvar/358250 ^@ NM_014165.3(NDUFAF4):c.*1375G>T http://identifiers.org/clinvar/358148 ^@ NM_022726.3(ELOVL4):c.351T>A (p.Asn117Lys) http://identifiers.org/clinvar/358151 ^@ NM_022726.3(ELOVL4):c.-98C>T http://identifiers.org/clinvar/358261 ^@ NM_014165.3(NDUFAF4):c.*612A>G http://identifiers.org/clinvar/362923 ^@ NM_003816.2(ADAM9):c.315T>G (p.Thr105=) http://identifiers.org/clinvar/358270 ^@ NM_014165.3(NDUFAF4):c.*289C>G http://identifiers.org/clinvar/364063 ^@ NM_014290.2(TDRD7):c.718C>T (p.Arg240Cys) http://identifiers.org/clinvar/364064 ^@ NM_014290.2(TDRD7):c.838T>C (p.Trp280Arg) http://identifiers.org/clinvar/358272 ^@ NM_014165.3(NDUFAF4):c.241-9dupT http://identifiers.org/clinvar/358279 ^@ NM_014165.3(NDUFAF4):c.-49C>T http://identifiers.org/clinvar/358152 ^@ NM_022726.3(ELOVL4):c.-103G>C http://identifiers.org/clinvar/364076 ^@ NM_014290.2(TDRD7):c.2665A>G (p.Met889Val) http://identifiers.org/clinvar/358160 ^@ NM_022726.3(ELOVL4):c.-258C>T http://identifiers.org/clinvar/364077 ^@ NM_014290.2(TDRD7):c.2679G>A (p.Thr893=) http://identifiers.org/clinvar/358280 ^@ NM_003227.3(TFR2):c.*220C>T http://identifiers.org/clinvar/358286 ^@ NM_003227.3(TFR2):c.2172A>G (p.Pro724=) http://identifiers.org/clinvar/358163 ^@ NM_022726.3(ELOVL4):c.-292G>T http://identifiers.org/clinvar/364085 ^@ NM_000380.3(XPA):c.*234C>A http://identifiers.org/clinvar/358167 ^@ NM_183050.3(BCKDHB):c.-41C>T http://identifiers.org/clinvar/364087 ^@ NM_000380.3(XPA):c.*77C>A http://identifiers.org/clinvar/358179 ^@ NM_183050.3(BCKDHB):c.*395G>T http://identifiers.org/clinvar/358185 ^@ NM_183050.3(BCKDHB):c.*627T>C http://identifiers.org/clinvar/358190 ^@ NM_183050.3(BCKDHB):c.*789C>T http://identifiers.org/clinvar/362925 ^@ NM_003816.2(ADAM9):c.506A>G (p.Tyr169Cys) http://identifiers.org/clinvar/362944 ^@ NM_003816.2(ADAM9):c.*629C>T http://identifiers.org/clinvar/362946 ^@ NM_003816.2(ADAM9):c.*936A>G http://identifiers.org/clinvar/362947 ^@ NM_003816.2(ADAM9):c.*995A>C http://identifiers.org/clinvar/364089 ^@ NM_000380.3(XPA):c.390-13A>C http://identifiers.org/clinvar/358288 ^@ NM_003227.3(TFR2):c.1575G>A (p.Leu525=) http://identifiers.org/clinvar/358291 ^@ NM_003227.3(TFR2):c.1252G>A (p.Glu418Lys) http://identifiers.org/clinvar/358191 ^@ NM_183050.3(BCKDHB):c.*805T>C http://identifiers.org/clinvar/364095 ^@ NM_004612.3(TGFBR1):c.-43C>A http://identifiers.org/clinvar/358295 ^@ NM_003227.3(TFR2):c.726+9C>T http://identifiers.org/clinvar/364100 ^@ NM_004612.3(TGFBR1):c.666A>G (p.Gly222=) http://identifiers.org/clinvar/358193 ^@ NM_183050.3(BCKDHB):c.*896A>G http://identifiers.org/clinvar/358194 ^@ NM_183050.3(BCKDHB):c.*921C>T http://identifiers.org/clinvar/358197 ^@ NM_183050.3(BCKDHB):c.*1010A>G http://identifiers.org/clinvar/362954 ^@ NM_000037.3(ANK1):c.*2152T>G http://identifiers.org/clinvar/358296 ^@ NM_003227.3(TFR2):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/358297 ^@ NM_003227.3(TFR2):c.617C>A (p.Ala206Asp) http://identifiers.org/clinvar/362956 ^@ NM_000037.3(ANK1):c.*2022G>A http://identifiers.org/clinvar/364102 ^@ NM_004612.3(TGFBR1):c.1443T>A (p.Ala481=) http://identifiers.org/clinvar/362957 ^@ NM_000037.3(ANK1):c.*1952G>A http://identifiers.org/clinvar/358300 ^@ NM_003227.3(TFR2):c.447G>A (p.Gly149=) http://identifiers.org/clinvar/358301 ^@ NM_003227.3(TFR2):c.140C>T (p.Thr47Ile) http://identifiers.org/clinvar/362971 ^@ NM_000037.3(ANK1):c.*701C>T http://identifiers.org/clinvar/362972 ^@ NM_000037.3(ANK1):c.*659_*660dupAC http://identifiers.org/clinvar/362978 ^@ NM_000037.3(ANK1):c.*238T>C http://identifiers.org/clinvar/362983 ^@ NM_000037.3(ANK1):c.5045G>A (p.Arg1682Gln) http://identifiers.org/clinvar/358317 ^@ NM_000602.4(SERPINE1):c.*508C>A http://identifiers.org/clinvar/362987 ^@ NM_000037.3(ANK1):c.4636G>A (p.Val1546Ile) http://identifiers.org/clinvar/358320 ^@ NM_000602.4(SERPINE1):c.*752C>A http://identifiers.org/clinvar/358200 ^@ NM_183050.3(BCKDHB):c.*1162T>C http://identifiers.org/clinvar/358323 ^@ NM_000602.4(SERPINE1):c.*892G>A http://identifiers.org/clinvar/358334 ^@ NM_000602.4(SERPINE1):c.*1388G>A http://identifiers.org/clinvar/364103 ^@ NM_004612.3(TGFBR1):c.*69A>G http://identifiers.org/clinvar/362992 ^@ NM_000037.3(ANK1):c.4259-13T>C http://identifiers.org/clinvar/358205 ^@ NM_183050.3(BCKDHB):c.*1554C>G http://identifiers.org/clinvar/358206 ^@ NM_183050.3(BCKDHB):c.*1778A>G http://identifiers.org/clinvar/363006 ^@ NM_000037.3(ANK1):c.3399C>T (p.Thr1133=) http://identifiers.org/clinvar/358208 ^@ NM_183050.3(BCKDHB):c.*1810T>C http://identifiers.org/clinvar/364109 ^@ NM_004612.3(TGFBR1):c.*709C>T http://identifiers.org/clinvar/358209 ^@ NM_183050.3(BCKDHB):c.*1875G>A http://identifiers.org/clinvar/363008 ^@ NM_000037.3(ANK1):c.3282G>A (p.Thr1094=) http://identifiers.org/clinvar/358345 ^@ NM_198999.2(SLC26A5):c.2066G>A (p.Arg689Gln) http://identifiers.org/clinvar/358349 ^@ NM_198999.2(SLC26A5):c.1653G>T (p.Leu551Phe) http://identifiers.org/clinvar/364113 ^@ NM_004612.3(TGFBR1):c.*1183G>A http://identifiers.org/clinvar/364117 ^@ NM_004612.3(TGFBR1):c.*1368C>A http://identifiers.org/clinvar/358352 ^@ NM_198999.2(SLC26A5):c.1119+6G>C http://identifiers.org/clinvar/364128 ^@ NM_004612.3(TGFBR1):c.*1924G>T http://identifiers.org/clinvar/364130 ^@ NM_004612.3(TGFBR1):c.*2005T>G http://identifiers.org/clinvar/358214 ^@ NM_006416.4(SLC35A1):c.-21G>A http://identifiers.org/clinvar/358218 ^@ NM_006416.4(SLC35A1):c.*144_*147delAAAC http://identifiers.org/clinvar/364134 ^@ NM_004612.3(TGFBR1):c.*2092G>T http://identifiers.org/clinvar/358223 ^@ NM_006416.4(SLC35A1):c.*429A>G http://identifiers.org/clinvar/358224 ^@ NM_006416.4(SLC35A1):c.*464A>G http://identifiers.org/clinvar/358353 ^@ NM_198999.2(SLC26A5):c.775G>A (p.Val259Met) http://identifiers.org/clinvar/364136 ^@ NM_004612.3(TGFBR1):c.*2100T>G http://identifiers.org/clinvar/358369 ^@ NM_005045.3(RELN):c.*397G>A http://identifiers.org/clinvar/358237 ^@ NM_020320.4(RARS2):c.442A>G (p.Thr148Ala) http://identifiers.org/clinvar/358239 ^@ NM_020320.4(RARS2):c.207A>G (p.Ala69=) http://identifiers.org/clinvar/358374 ^@ NM_005045.3(RELN):c.*37G>A http://identifiers.org/clinvar/363010 ^@ NM_000037.3(ANK1):c.3115+9G>A http://identifiers.org/clinvar/358375 ^@ NM_005045.3(RELN):c.10322G>A (p.Arg3441Gln) http://identifiers.org/clinvar/364138 ^@ NM_004612.3(TGFBR1):c.*2103T>G http://identifiers.org/clinvar/364133 ^@ NM_004612.3(TGFBR1):c.*2105dupT http://identifiers.org/clinvar/358378 ^@ NM_005045.3(RELN):c.10026G>A (p.Thr3342=) http://identifiers.org/clinvar/358380 ^@ NM_005045.3(RELN):c.9664A>G (p.Ile3222Val) http://identifiers.org/clinvar/358383 ^@ NM_005045.3(RELN):c.8839G>A (p.Ala2947Thr) http://identifiers.org/clinvar/363011 ^@ NM_000037.3(ANK1):c.3033C>T (p.Ser1011=) http://identifiers.org/clinvar/358387 ^@ NM_005045.3(RELN):c.7668+3G>T http://identifiers.org/clinvar/358391 ^@ NM_005045.3(RELN):c.6147G>A (p.Ala2049=) http://identifiers.org/clinvar/358252 ^@ NM_014165.3(NDUFAF4):c.*1362C>T http://identifiers.org/clinvar/363023 ^@ NM_000037.3(ANK1):c.1824C>T (p.Ile608=) http://identifiers.org/clinvar/358255 ^@ NM_014165.3(NDUFAF4):c.*1121A>G http://identifiers.org/clinvar/364141 ^@ NM_004612.3(TGFBR1):c.*2112_*2114delGTT http://identifiers.org/clinvar/364143 ^@ NM_004612.3(TGFBR1):c.*2179delA http://identifiers.org/clinvar/358259 ^@ NM_014165.3(NDUFAF4):c.*986A>C http://identifiers.org/clinvar/358262 ^@ NM_014165.3(NDUFAF4):c.*459A>G http://identifiers.org/clinvar/358265 ^@ NM_014165.3(NDUFAF4):c.*350A>C http://identifiers.org/clinvar/358266 ^@ NM_014165.3(NDUFAF4):c.*332A>T http://identifiers.org/clinvar/364148 ^@ NM_004612.3(TGFBR1):c.*2645A>C http://identifiers.org/clinvar/364153 ^@ NM_004612.3(TGFBR1):c.*2791G>A http://identifiers.org/clinvar/358269 ^@ NM_014165.3(NDUFAF4):c.*294T>G http://identifiers.org/clinvar/358271 ^@ NM_014165.3(NDUFAF4):c.491T>A (p.Phe164Tyr) http://identifiers.org/clinvar/358273 ^@ NM_014165.3(NDUFAF4):c.223C>G (p.Pro75Ala) http://identifiers.org/clinvar/358275 ^@ NM_014165.3(NDUFAF4):c.-24C>G http://identifiers.org/clinvar/358281 ^@ NM_003227.3(TFR2):c.*208C>T http://identifiers.org/clinvar/363024 ^@ NM_000037.3(ANK1):c.1673G>A (p.Arg558Gln) http://identifiers.org/clinvar/358285 ^@ NM_003227.3(TFR2):c.2175C>T (p.Ala725=) http://identifiers.org/clinvar/364154 ^@ NM_004612.3(TGFBR1):c.*2799C>T http://identifiers.org/clinvar/358290 ^@ NM_003227.3(TFR2):c.1391-13C>A http://identifiers.org/clinvar/364157 ^@ NM_004612.3(TGFBR1):c.*2880C>A http://identifiers.org/clinvar/364162 ^@ NM_004612.3(TGFBR1):c.*3261T>C http://identifiers.org/clinvar/364168 ^@ NM_004612.3(TGFBR1):c.*3430delA http://identifiers.org/clinvar/358392 ^@ NM_005045.3(RELN):c.6082G>A (p.Gly2028Ser) http://identifiers.org/clinvar/358396 ^@ NM_005045.3(RELN):c.5166C>G (p.Phe1722Leu) http://identifiers.org/clinvar/358302 ^@ NM_003227.3(TFR2):c.-8A>T http://identifiers.org/clinvar/364178 ^@ NM_004612.3(TGFBR1):c.*4055G>T http://identifiers.org/clinvar/364179 ^@ NM_004612.3(TGFBR1):c.*4088G>T http://identifiers.org/clinvar/358303 ^@ NM_003227.3(TFR2):c.-39C>T http://identifiers.org/clinvar/364184 ^@ NM_004612.3(TGFBR1):c.*4467C>A http://identifiers.org/clinvar/358401 ^@ NM_005045.3(RELN):c.4480C>T (p.Arg1494Trp) http://identifiers.org/clinvar/364199 ^@ NM_033087.3(ALG2):c.*513dupT http://identifiers.org/clinvar/363026 ^@ NM_000037.3(ANK1):c.1563C>T (p.Ala521=) http://identifiers.org/clinvar/363029 ^@ NM_000037.3(ANK1):c.1415C>T (p.Thr472Ile) http://identifiers.org/clinvar/363030 ^@ NM_000037.3(ANK1):c.1404+15C>T http://identifiers.org/clinvar/364200 ^@ NM_033087.3(ALG2):c.*422A>G http://identifiers.org/clinvar/358405 ^@ NM_005045.3(RELN):c.4296A>G (p.Gly1432=) http://identifiers.org/clinvar/364203 ^@ NM_033087.3(ALG2):c.1174G>A (p.Ala392Thr) http://identifiers.org/clinvar/364205 ^@ NM_033087.3(ALG2):c.1097C>T (p.Pro366Leu) http://identifiers.org/clinvar/363031 ^@ NM_000037.3(ANK1):c.1350G>A (p.Thr450=) http://identifiers.org/clinvar/364210 ^@ NM_033087.3(ALG2):c.385C>T (p.Arg129Trp) http://identifiers.org/clinvar/363032 ^@ NM_000037.3(ANK1):c.1337G>C (p.Arg446Thr) http://identifiers.org/clinvar/363039 ^@ NM_000037.3(ANK1):c.985G>T (p.Ala329Ser) http://identifiers.org/clinvar/363045 ^@ NM_000037.3(ANK1):c.669G>A (p.Gln223=) http://identifiers.org/clinvar/358412 ^@ NM_005045.3(RELN):c.1790A>G (p.His597Arg) http://identifiers.org/clinvar/358415 ^@ NM_005045.3(RELN):c.1171A>G (p.Ile391Val) http://identifiers.org/clinvar/358421 ^@ NM_005045.3(RELN):c.223C>T (p.His75Tyr) http://identifiers.org/clinvar/363050 ^@ NM_000037.3(ANK1):c.384G>A (p.Lys128=) http://identifiers.org/clinvar/363064 ^@ NM_006749.4(SLC20A2):c.*124G>T http://identifiers.org/clinvar/363069 ^@ NM_006749.4(SLC20A2):c.1803G>A (p.Ser601=) http://identifiers.org/clinvar/358304 ^@ NM_000602.4(SERPINE1):c.-101G>A http://identifiers.org/clinvar/358305 ^@ NM_000602.4(SERPINE1):c.-93C>T http://identifiers.org/clinvar/364212 ^@ NM_033087.3(ALG2):c.209G>A (p.Cys70Tyr) http://identifiers.org/clinvar/358308 ^@ NM_000602.4(SERPINE1):c.191C>T (p.Ser64Leu) http://identifiers.org/clinvar/363078 ^@ NM_006749.4(SLC20A2):c.1008C>T (p.His336=) http://identifiers.org/clinvar/358309 ^@ NM_000602.4(SERPINE1):c.456G>C (p.Val152=) http://identifiers.org/clinvar/358313 ^@ NM_000602.4(SERPINE1):c.845T>G (p.Ile282Ser) http://identifiers.org/clinvar/358422 ^@ NM_005045.3(RELN):c.113T>A (p.Phe38Tyr) http://identifiers.org/clinvar/358423 ^@ NM_005045.3(RELN):c.-3_-1dupGGC http://identifiers.org/clinvar/358430 ^@ NM_005045.3(RELN):c.-6_-1delGGCGGC http://identifiers.org/clinvar/358314 ^@ NM_000602.4(SERPINE1):c.1020C>T (p.Val340=) http://identifiers.org/clinvar/364216 ^@ NM_033087.3(ALG2):c.-63G>A http://identifiers.org/clinvar/363080 ^@ NM_006749.4(SLC20A2):c.910G>A (p.Gly304Ser) http://identifiers.org/clinvar/298484 ^@ NM_021830.4(TWNK):c.-650A>G http://identifiers.org/clinvar/363088 ^@ NM_006749.4(SLC20A2):c.678C>T (p.Phe226=) http://identifiers.org/clinvar/298489 ^@ NM_021830.4(TWNK):c.-423C>T http://identifiers.org/clinvar/358424 ^@ NM_005045.3(RELN):c.-12_-1dupGGCGGCGGCGGC http://identifiers.org/clinvar/363089 ^@ NM_006749.4(SLC20A2):c.553G>C (p.Val185Leu) http://identifiers.org/clinvar/298490 ^@ NM_021830.4(TWNK):c.-304_-303delGT http://identifiers.org/clinvar/363091 ^@ NM_006749.4(SLC20A2):c.290-5T>C http://identifiers.org/clinvar/358425 ^@ NM_005045.3(RELN):c.-15_-1dupGGCGGCGGCGGCGGC http://identifiers.org/clinvar/363101 ^@ NM_006749.4(SLC20A2):c.-436C>T http://identifiers.org/clinvar/363104 ^@ NM_006749.4(SLC20A2):c.-568C>A http://identifiers.org/clinvar/358318 ^@ NM_000602.4(SERPINE1):c.*690T>C http://identifiers.org/clinvar/358434 ^@ NM_006348.3(COG5):c.*1720A>G http://identifiers.org/clinvar/363113 ^@ NM_018105.2(THAP1):c.*686A>G http://identifiers.org/clinvar/358319 ^@ NM_000602.4(SERPINE1):c.*722T>G http://identifiers.org/clinvar/298492 ^@ NM_021830.4(TWNK):c.-241C>T http://identifiers.org/clinvar/363115 ^@ NM_018105.2(THAP1):c.*455A>G http://identifiers.org/clinvar/358435 ^@ NM_006348.3(COG5):c.*1637G>A http://identifiers.org/clinvar/358321 ^@ NM_000602.4(SERPINE1):c.*859C>T http://identifiers.org/clinvar/298493 ^@ NM_021830.4(TWNK):c.-105T>C http://identifiers.org/clinvar/358322 ^@ NM_000602.4(SERPINE1):c.*891C>T http://identifiers.org/clinvar/358325 ^@ NM_000602.4(SERPINE1):c.*997_*1005dupCCGCGCCCC http://identifiers.org/clinvar/363118 ^@ NM_018105.2(THAP1):c.*280dupT http://identifiers.org/clinvar/358326 ^@ NM_000602.4(SERPINE1):c.*1006T>C http://identifiers.org/clinvar/298496 ^@ NM_021830.4(TWNK):c.274G>A (p.Gly92Ser) http://identifiers.org/clinvar/358437 ^@ NM_006348.3(COG5):c.*1274_*1277dupAAGA http://identifiers.org/clinvar/298497 ^@ NM_021830.4(TWNK):c.276C>T (p.Gly92=) http://identifiers.org/clinvar/358441 ^@ NM_006348.3(COG5):c.*986G>A http://identifiers.org/clinvar/298500 ^@ NM_021830.4(TWNK):c.1042G>A (p.Gly348Arg) http://identifiers.org/clinvar/358327 ^@ NM_000602.4(SERPINE1):c.*1147G>C http://identifiers.org/clinvar/358442 ^@ NM_006348.3(COG5):c.*828C>G http://identifiers.org/clinvar/298502 ^@ NM_021830.4(TWNK):c.1488T>C (p.Thr496=) http://identifiers.org/clinvar/358447 ^@ NM_006348.3(COG5):c.*293T>C http://identifiers.org/clinvar/298506 ^@ NM_021830.4(TWNK):c.*234T>G http://identifiers.org/clinvar/363120 ^@ NM_018105.2(THAP1):c.*190C>A http://identifiers.org/clinvar/358328 ^@ NM_000602.4(SERPINE1):c.*1155T>C http://identifiers.org/clinvar/358331 ^@ NM_000602.4(SERPINE1):c.*1266G>C http://identifiers.org/clinvar/298508 ^@ NM_021830.4(TWNK):c.*367A>G http://identifiers.org/clinvar/363126 ^@ NM_018105.2(THAP1):c.71+9C>A http://identifiers.org/clinvar/358333 ^@ NM_000602.4(SERPINE1):c.*1358T>C http://identifiers.org/clinvar/298513 ^@ NM_021830.4(TWNK):c.*521C>G http://identifiers.org/clinvar/358338 ^@ NM_000602.4(SERPINE1):c.*1737G>A http://identifiers.org/clinvar/358449 ^@ NM_006348.3(COG5):c.*8A>C http://identifiers.org/clinvar/358339 ^@ NM_000602.4(SERPINE1):c.*1784delT http://identifiers.org/clinvar/298514 ^@ NM_021830.4(TWNK):c.*555G>A http://identifiers.org/clinvar/298520 ^@ NM_021830.4(TWNK):c.*766A>T http://identifiers.org/clinvar/358340 ^@ NM_198999.2(SLC26A5):c.*137C>T http://identifiers.org/clinvar/298523 ^@ NM_022039.3(FBXW4):c.*453C>T http://identifiers.org/clinvar/358456 ^@ NM_006348.3(COG5):c.1920C>T (p.Ile640=) http://identifiers.org/clinvar/358459 ^@ NM_006348.3(COG5):c.1442A>G (p.Tyr481Cys) http://identifiers.org/clinvar/363128 ^@ NM_018105.2(THAP1):c.-40T>C http://identifiers.org/clinvar/298525 ^@ NM_022039.3(FBXW4):c.*259C>T http://identifiers.org/clinvar/363130 ^@ NM_018105.2(THAP1):c.-101C>G http://identifiers.org/clinvar/298532 ^@ NM_022039.3(FBXW4):c.837-9C>T http://identifiers.org/clinvar/358343 ^@ NM_198999.2(SLC26A5):c.2204C>T (p.Pro735Leu) http://identifiers.org/clinvar/358348 ^@ NM_198999.2(SLC26A5):c.1693G>A (p.Ala565Thr) http://identifiers.org/clinvar/358461 ^@ NM_006348.3(COG5):c.1355A>G (p.His452Arg) http://identifiers.org/clinvar/358466 ^@ NM_006348.3(COG5):c.929-11C>T http://identifiers.org/clinvar/358473 ^@ NM_006348.3(COG5):c.440+4C>A http://identifiers.org/clinvar/358474 ^@ NM_006348.3(COG5):c.357A>G (p.Ala119=) http://identifiers.org/clinvar/363134 ^@ NM_018105.2(THAP1):c.-237G>T http://identifiers.org/clinvar/358351 ^@ NM_198999.2(SLC26A5):c.1340A>G (p.Asn447Ser) http://identifiers.org/clinvar/358477 ^@ NM_006348.3(COG5):c.187+3A>G http://identifiers.org/clinvar/358354 ^@ NM_198999.2(SLC26A5):c.518C>G (p.Ala173Gly) http://identifiers.org/clinvar/358479 ^@ NM_006348.3(COG5):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/363138 ^@ NM_152419.2(HGSNAT):c.111G>A (p.Pro37=) http://identifiers.org/clinvar/358481 ^@ NM_006348.3(COG5):c.-30A>T http://identifiers.org/clinvar/298536 ^@ NM_022039.3(FBXW4):c.458G>A (p.Arg153His) http://identifiers.org/clinvar/298538 ^@ NM_022039.3(FBXW4):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/358487 ^@ NM_006348.3(COG5):c.-351G>A http://identifiers.org/clinvar/358489 ^@ NM_006348.3(COG5):c.-387C>G http://identifiers.org/clinvar/358490 ^@ NM_006348.3(COG5):c.-505G>T http://identifiers.org/clinvar/358491 ^@ NM_000441.1(SLC26A4):c.-186A>G http://identifiers.org/clinvar/363147 ^@ NM_152419.2(HGSNAT):c.1237C>T (p.Pro413Ser) http://identifiers.org/clinvar/358359 ^@ NM_198999.2(SLC26A5):c.-74T>C http://identifiers.org/clinvar/363151 ^@ NM_152419.2(HGSNAT):c.1688T>G (p.Val563Gly) http://identifiers.org/clinvar/363153 ^@ NM_152419.2(HGSNAT):c.*149G>T http://identifiers.org/clinvar/358360 ^@ NM_198999.2(SLC26A5):c.-80G>A http://identifiers.org/clinvar/358365 ^@ NM_198999.2(SLC26A5):c.-231G>T http://identifiers.org/clinvar/298540 ^@ NM_022039.3(FBXW4):c.38_40delAGG (p.Glu13del) http://identifiers.org/clinvar/358494 ^@ NM_000441.1(SLC26A4):c.371T>A (p.Ile124Asn) http://identifiers.org/clinvar/298542 ^@ NM_022039.3(FBXW4):c.-26C>A http://identifiers.org/clinvar/298545 ^@ NM_022039.3(FBXW4):c.-92T>C http://identifiers.org/clinvar/358366 ^@ NM_005045.3(RELN):c.*805_*806delAG http://identifiers.org/clinvar/298547 ^@ NM_022039.3(FBXW4):c.-250G>A http://identifiers.org/clinvar/298550 ^@ NM_024747.5(HPS6):c.112C>G (p.Pro38Ala) http://identifiers.org/clinvar/298552 ^@ NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) http://identifiers.org/clinvar/358368 ^@ NM_005045.3(RELN):c.*576G>A http://identifiers.org/clinvar/298553 ^@ NM_024747.5(HPS6):c.298C>T (p.Leu100=) http://identifiers.org/clinvar/298555 ^@ NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) http://identifiers.org/clinvar/298566 ^@ NM_016169.3(SUFU):c.-103C>A http://identifiers.org/clinvar/358499 ^@ NM_000441.1(SLC26A4):c.1068C>T (p.Ile356=) http://identifiers.org/clinvar/363154 ^@ NM_152419.2(HGSNAT):c.*160C>T http://identifiers.org/clinvar/358372 ^@ NM_005045.3(RELN):c.*82T>C http://identifiers.org/clinvar/358377 ^@ NM_005045.3(RELN):c.10182-11G>A http://identifiers.org/clinvar/358382 ^@ NM_005045.3(RELN):c.9172T>C (p.Leu3058=) http://identifiers.org/clinvar/358385 ^@ NM_005045.3(RELN):c.8029G>A (p.Ala2677Thr) http://identifiers.org/clinvar/363160 ^@ NM_152419.2(HGSNAT):c.*1064A>G http://identifiers.org/clinvar/298567 ^@ NM_016169.3(SUFU):c.-81C>A http://identifiers.org/clinvar/358505 ^@ NM_000441.1(SLC26A4):c.*69C>A http://identifiers.org/clinvar/298578 ^@ NM_016169.3(SUFU):c.*205G>A http://identifiers.org/clinvar/298583 ^@ NM_016169.3(SUFU):c.*520G>A http://identifiers.org/clinvar/363161 ^@ NM_152419.2(HGSNAT):c.*1100_*1103delAACA http://identifiers.org/clinvar/298584 ^@ NM_016169.3(SUFU):c.*907C>G http://identifiers.org/clinvar/298587 ^@ NM_016169.3(SUFU):c.*1122C>T http://identifiers.org/clinvar/358508 ^@ NM_000441.1(SLC26A4):c.*409A>T http://identifiers.org/clinvar/358388 ^@ NM_005045.3(RELN):c.6830C>T (p.Ala2277Val) http://identifiers.org/clinvar/363163 ^@ NM_152419.2(HGSNAT):c.*1204C>A http://identifiers.org/clinvar/363169 ^@ NM_152419.2(HGSNAT):c.*1331T>A http://identifiers.org/clinvar/298589 ^@ NM_016169.3(SUFU):c.*1389C>T http://identifiers.org/clinvar/358389 ^@ NM_005045.3(RELN):c.6672-15G>A http://identifiers.org/clinvar/358390 ^@ NM_005045.3(RELN):c.6228C>T (p.Ser2076=) http://identifiers.org/clinvar/358511 ^@ NM_000441.1(SLC26A4):c.*618A>G http://identifiers.org/clinvar/358512 ^@ NM_000441.1(SLC26A4):c.*780T>C http://identifiers.org/clinvar/298595 ^@ NM_016169.3(SUFU):c.*1889C>T http://identifiers.org/clinvar/358516 ^@ NM_000441.1(SLC26A4):c.*1059T>C http://identifiers.org/clinvar/298600 ^@ NM_016169.3(SUFU):c.*2172G>A http://identifiers.org/clinvar/298601 ^@ NM_016169.3(SUFU):c.*2195G>T http://identifiers.org/clinvar/358393 ^@ NM_005045.3(RELN):c.5797+11A>G http://identifiers.org/clinvar/363172 ^@ NM_152419.2(HGSNAT):c.*1750C>T http://identifiers.org/clinvar/363173 ^@ NM_152419.2(HGSNAT):c.*1780C>T http://identifiers.org/clinvar/358397 ^@ NM_005045.3(RELN):c.5136G>A (p.Thr1712=) http://identifiers.org/clinvar/358524 ^@ NM_000441.1(SLC26A4):c.*1797G>C http://identifiers.org/clinvar/358398 ^@ NM_005045.3(RELN):c.4937-4dupT http://identifiers.org/clinvar/298602 ^@ NM_016169.3(SUFU):c.*2267G>T http://identifiers.org/clinvar/358400 ^@ NM_005045.3(RELN):c.4748-11T>C http://identifiers.org/clinvar/298603 ^@ NM_016169.3(SUFU):c.*2475C>T http://identifiers.org/clinvar/358533 ^@ NM_000111.2(SLC26A3):c.*130C>T http://identifiers.org/clinvar/358535 ^@ NM_000111.2(SLC26A3):c.2258A>G (p.Asn753Ser) http://identifiers.org/clinvar/298605 ^@ NM_016169.3(SUFU):c.*2585T>C http://identifiers.org/clinvar/298606 ^@ NM_016169.3(SUFU):c.*2643C>G http://identifiers.org/clinvar/358538 ^@ NM_000111.2(SLC26A3):c.1953T>C (p.Leu651=) http://identifiers.org/clinvar/363183 ^@ NM_152419.2(HGSNAT):c.*2502A>G http://identifiers.org/clinvar/358403 ^@ NM_005045.3(RELN):c.4434C>G (p.Asn1478Lys) http://identifiers.org/clinvar/358404 ^@ NM_005045.3(RELN):c.4308A>G (p.Ala1436=) http://identifiers.org/clinvar/363194 ^@ NM_005914.3(MCM4):c.-646delG http://identifiers.org/clinvar/363195 ^@ NM_005914.3(MCM4):c.-501A>G http://identifiers.org/clinvar/363197 ^@ NM_005914.3(MCM4):c.-473G>A http://identifiers.org/clinvar/363200 ^@ NM_005914.3(MCM4):c.-407G>A http://identifiers.org/clinvar/358542 ^@ NM_000111.2(SLC26A3):c.1675G>C (p.Ala559Pro) http://identifiers.org/clinvar/363209 ^@ NM_005914.3(MCM4):c.-164G>T http://identifiers.org/clinvar/363210 ^@ NM_005914.3(MCM4):c.-64G>A http://identifiers.org/clinvar/363211 ^@ NM_005914.3(MCM4):c.-55C>T http://identifiers.org/clinvar/358406 ^@ NM_005045.3(RELN):c.3642C>T (p.Val1214=) http://identifiers.org/clinvar/363221 ^@ NM_005914.3(MCM4):c.811A>G (p.Met271Val) http://identifiers.org/clinvar/363223 ^@ NM_005914.3(MCM4):c.858C>T (p.Ser286=) http://identifiers.org/clinvar/298613 ^@ NM_016169.3(SUFU):c.*3239C>G http://identifiers.org/clinvar/298614 ^@ NM_016169.3(SUFU):c.*3290C>G http://identifiers.org/clinvar/358543 ^@ NM_000111.2(SLC26A3):c.1529C>T (p.Thr510Met) http://identifiers.org/clinvar/358544 ^@ NM_000111.2(SLC26A3):c.1402G>A (p.Asp468Asn) http://identifiers.org/clinvar/363239 ^@ NM_005914.3(MCM4):c.*71C>A http://identifiers.org/clinvar/358545 ^@ NM_000111.2(SLC26A3):c.1299G>A (p.Ala433=) http://identifiers.org/clinvar/363241 ^@ NM_005914.3(MCM4):c.*213C>T http://identifiers.org/clinvar/358547 ^@ NM_000111.2(SLC26A3):c.996C>T (p.Asp332=) http://identifiers.org/clinvar/363246 ^@ NM_005914.3(MCM4):c.*438A>G http://identifiers.org/clinvar/363247 ^@ NM_005914.3(MCM4):c.*484delT http://identifiers.org/clinvar/298616 ^@ NM_000102.3(CYP17A1):c.*130C>T http://identifiers.org/clinvar/298619 ^@ NM_000102.3(CYP17A1):c.1363A>G (p.Ile455Val) http://identifiers.org/clinvar/363251 ^@ NM_005914.3(MCM4):c.*877G>A http://identifiers.org/clinvar/298620 ^@ NM_000102.3(CYP17A1):c.1269C>G (p.Thr423=) http://identifiers.org/clinvar/298629 ^@ NM_000102.3(CYP17A1):c.-30dupG http://identifiers.org/clinvar/298634 ^@ NM_017649.4(CNNM2):c.49C>G (p.Gln17Glu) http://identifiers.org/clinvar/298644 ^@ NM_017649.4(CNNM2):c.1764C>T (p.Tyr588=) http://identifiers.org/clinvar/358549 ^@ NM_000111.2(SLC26A3):c.891C>T (p.Thr297=) http://identifiers.org/clinvar/358550 ^@ NM_000111.2(SLC26A3):c.889-6T>C http://identifiers.org/clinvar/363252 ^@ NM_005914.3(MCM4):c.*882G>A http://identifiers.org/clinvar/298649 ^@ NM_017649.4(CNNM2):c.2310C>T (p.Ala770=) http://identifiers.org/clinvar/298650 ^@ NM_017649.4(CNNM2):c.2544C>T (p.Asp848=) http://identifiers.org/clinvar/363253 ^@ NM_005914.3(MCM4):c.*955A>G http://identifiers.org/clinvar/363256 ^@ NM_005914.3(MCM4):c.*1305delT http://identifiers.org/clinvar/363265 ^@ NM_003068.4(SNAI2):c.257T>C (p.Val86Ala) http://identifiers.org/clinvar/358558 ^@ NM_000111.2(SLC26A3):c.271+7T>A http://identifiers.org/clinvar/358416 ^@ NM_005045.3(RELN):c.1011A>T (p.Glu337Asp) http://identifiers.org/clinvar/298656 ^@ NM_017649.4(CNNM2):c.*455C>T http://identifiers.org/clinvar/298657 ^@ NM_017649.4(CNNM2):c.*528G>A http://identifiers.org/clinvar/358560 ^@ NM_000111.2(SLC26A3):c.203G>A (p.Arg68Gln) http://identifiers.org/clinvar/363271 ^@ NM_003068.4(SNAI2):c.-77C>A http://identifiers.org/clinvar/363272 ^@ NM_003068.4(SNAI2):c.-82C>A http://identifiers.org/clinvar/298658 ^@ NM_017649.4(CNNM2):c.*619A>G http://identifiers.org/clinvar/363273 ^@ NM_003068.4(SNAI2):c.-102C>A http://identifiers.org/clinvar/363275 ^@ NM_006269.1(RP1):c.-101G>A http://identifiers.org/clinvar/298659 ^@ NM_017649.4(CNNM2):c.*686T>A http://identifiers.org/clinvar/363278 ^@ NM_006269.1(RP1):c.615+3G>A http://identifiers.org/clinvar/298662 ^@ NM_017649.4(CNNM2):c.*811A>G http://identifiers.org/clinvar/298663 ^@ NM_017649.4(CNNM2):c.*834C>T http://identifiers.org/clinvar/358564 ^@ NM_000108.4(DLD):c.74A>C (p.Gln25Pro) http://identifiers.org/clinvar/358569 ^@ NM_000108.4(DLD):c.860G>A (p.Gly287Glu) http://identifiers.org/clinvar/298664 ^@ NM_017649.4(CNNM2):c.*873G>A http://identifiers.org/clinvar/358575 ^@ NM_000108.4(DLD):c.*207G>A http://identifiers.org/clinvar/358578 ^@ NM_000108.4(DLD):c.*470G>A http://identifiers.org/clinvar/363279 ^@ NM_006269.1(RP1):c.912G>T (p.Lys304Asn) http://identifiers.org/clinvar/298668 ^@ NM_017649.4(CNNM2):c.*1162G>A http://identifiers.org/clinvar/298669 ^@ NM_017649.4(CNNM2):c.*1246G>C http://identifiers.org/clinvar/363280 ^@ NM_006269.1(RP1):c.919T>C (p.Ser307Pro) http://identifiers.org/clinvar/358609 ^@ NM_014491.3(FOXP2):c.1770-14A>T http://identifiers.org/clinvar/358611 ^@ NM_014491.3(FOXP2):c.1982G>A (p.Gly661Asp) http://identifiers.org/clinvar/363287 ^@ NM_006269.1(RP1):c.2938G>A (p.Gly980Ser) http://identifiers.org/clinvar/298672 ^@ NM_000494.3(COL17A1):c.*744G>T http://identifiers.org/clinvar/298674 ^@ NM_000494.3(COL17A1):c.*558G>C http://identifiers.org/clinvar/363291 ^@ NM_006269.1(RP1):c.3456G>A (p.Lys1152=) http://identifiers.org/clinvar/363294 ^@ NM_006269.1(RP1):c.3870G>T (p.Gln1290His) http://identifiers.org/clinvar/298678 ^@ NM_000494.3(COL17A1):c.*64G>C http://identifiers.org/clinvar/298683 ^@ NM_000494.3(COL17A1):c.4304C>T (p.Ala1435Val) http://identifiers.org/clinvar/363298 ^@ NM_006269.1(RP1):c.4536G>C (p.Lys1512Asn) http://identifiers.org/clinvar/298685 ^@ NM_000494.3(COL17A1):c.4186A>G (p.Thr1396Ala) http://identifiers.org/clinvar/298688 ^@ NM_000494.3(COL17A1):c.4081G>A (p.Gly1361Arg) http://identifiers.org/clinvar/298693 ^@ NM_000494.3(COL17A1):c.3624C>T (p.Ala1208=) http://identifiers.org/clinvar/358616 ^@ NM_014491.3(FOXP2):c.*219_*220delTT http://identifiers.org/clinvar/358617 ^@ NM_014491.3(FOXP2):c.*220delT http://identifiers.org/clinvar/363305 ^@ NM_006269.1(RP1):c.5296A>C (p.Asn1766His) http://identifiers.org/clinvar/298697 ^@ NM_000494.3(COL17A1):c.3277+3G>C http://identifiers.org/clinvar/363307 ^@ NM_006269.1(RP1):c.5610C>G (p.Ser1870=) http://identifiers.org/clinvar/358626 ^@ NM_014491.3(FOXP2):c.*250A>G http://identifiers.org/clinvar/358632 ^@ NM_014491.3(FOXP2):c.*708T>G http://identifiers.org/clinvar/363311 ^@ NM_006269.1(RP1):c.6064A>C (p.Lys2022Gln) http://identifiers.org/clinvar/363316 ^@ NM_006269.1(RP1):c.*78G>T http://identifiers.org/clinvar/358634 ^@ NM_014491.3(FOXP2):c.*956G>A http://identifiers.org/clinvar/358636 ^@ NM_014491.3(FOXP2):c.*1524C>T http://identifiers.org/clinvar/358644 ^@ NM_014491.3(FOXP2):c.*1964C>T http://identifiers.org/clinvar/298707 ^@ NM_000494.3(COL17A1):c.2641C>G (p.Pro881Ala) http://identifiers.org/clinvar/298713 ^@ NM_000494.3(COL17A1):c.2407G>T (p.Gly803Ter) http://identifiers.org/clinvar/358418 ^@ NM_005045.3(RELN):c.545-15C>A http://identifiers.org/clinvar/358438 ^@ NM_006348.3(COG5):c.*1111C>T http://identifiers.org/clinvar/298716 ^@ NM_000494.3(COL17A1):c.2361G>C (p.Gln787His) http://identifiers.org/clinvar/363318 ^@ NM_006269.1(RP1):c.*261dupT http://identifiers.org/clinvar/298719 ^@ NM_000494.3(COL17A1):c.2092+5G>A http://identifiers.org/clinvar/363327 ^@ NM_017813.4(IMPAD1):c.*5505A>G http://identifiers.org/clinvar/358645 ^@ NM_014491.3(FOXP2):c.*1969T>A http://identifiers.org/clinvar/298720 ^@ NM_000494.3(COL17A1):c.2086G>A (p.Val696Ile) http://identifiers.org/clinvar/298722 ^@ NM_000494.3(COL17A1):c.2000A>G (p.Lys667Arg) http://identifiers.org/clinvar/358649 ^@ NM_014491.3(FOXP2):c.*2018A>G http://identifiers.org/clinvar/358444 ^@ NM_006348.3(COG5):c.*606A>G http://identifiers.org/clinvar/358453 ^@ NM_006348.3(COG5):c.2261+9G>A http://identifiers.org/clinvar/358655 ^@ NM_014491.3(FOXP2):c.*2302G>A http://identifiers.org/clinvar/358455 ^@ NM_006348.3(COG5):c.2102T>C (p.Val701Ala) http://identifiers.org/clinvar/363328 ^@ NM_017813.4(IMPAD1):c.*5492G>A http://identifiers.org/clinvar/363336 ^@ NM_017813.4(IMPAD1):c.*5142G>T http://identifiers.org/clinvar/298723 ^@ NM_000494.3(COL17A1):c.1830C>T (p.Ser610=) http://identifiers.org/clinvar/363337 ^@ NM_017813.4(IMPAD1):c.*5014A>G http://identifiers.org/clinvar/358460 ^@ NM_006348.3(COG5):c.1383C>A (p.Phe461Leu) http://identifiers.org/clinvar/363338 ^@ NM_017813.4(IMPAD1):c.*4973G>T http://identifiers.org/clinvar/358656 ^@ NM_014491.3(FOXP2):c.*2489A>C http://identifiers.org/clinvar/358657 ^@ NM_014491.3(FOXP2):c.*2558A>G http://identifiers.org/clinvar/358659 ^@ NM_014491.3(FOXP2):c.*2965T>C http://identifiers.org/clinvar/358464 ^@ NM_006348.3(COG5):c.1093A>G (p.Ile365Val) http://identifiers.org/clinvar/298732 ^@ NM_000494.3(COL17A1):c.1467G>A (p.Ala489=) http://identifiers.org/clinvar/298733 ^@ NM_000494.3(COL17A1):c.1450G>A (p.Gly484Ser) http://identifiers.org/clinvar/358667 ^@ NM_014491.3(FOXP2):c.*3466G>A http://identifiers.org/clinvar/358468 ^@ NM_006348.3(COG5):c.861A>T (p.Leu287Phe) http://identifiers.org/clinvar/358475 ^@ NM_006348.3(COG5):c.278C>T (p.Ala93Val) http://identifiers.org/clinvar/358476 ^@ NM_006348.3(COG5):c.210C>T (p.Asn70=) http://identifiers.org/clinvar/363340 ^@ NM_017813.4(IMPAD1):c.*4845A>G http://identifiers.org/clinvar/298737 ^@ NM_000494.3(COL17A1):c.1336G>A (p.Gly446Ser) http://identifiers.org/clinvar/298740 ^@ NM_000494.3(COL17A1):c.1212C>T (p.Ala404=) http://identifiers.org/clinvar/363342 ^@ NM_017813.4(IMPAD1):c.*4430A>G http://identifiers.org/clinvar/298742 ^@ NM_000494.3(COL17A1):c.990A>G (p.Thr330=) http://identifiers.org/clinvar/298743 ^@ NM_000494.3(COL17A1):c.979G>A (p.Ala327Thr) http://identifiers.org/clinvar/358669 ^@ NM_014491.3(FOXP2):c.*3563C>T http://identifiers.org/clinvar/358480 ^@ NM_006348.3(COG5):c.-6G>A http://identifiers.org/clinvar/363344 ^@ NM_017813.4(IMPAD1):c.*4209G>A http://identifiers.org/clinvar/358671 ^@ NM_014491.3(FOXP2):c.*3624T>G http://identifiers.org/clinvar/298747 ^@ NM_000494.3(COL17A1):c.606G>C (p.Ser202=) http://identifiers.org/clinvar/358684 ^@ NM_001127500.2(MET):c.1174C>A (p.Pro392Thr) http://identifiers.org/clinvar/298748 ^@ NM_000494.3(COL17A1):c.584T>C (p.Ile195Thr) http://identifiers.org/clinvar/358689 ^@ NM_001127500.2(MET):c.1965+14T>C http://identifiers.org/clinvar/298754 ^@ NM_000494.3(COL17A1):c.316C>T (p.Arg106Cys) http://identifiers.org/clinvar/298768 ^@ NM_005445.3(SMC3):c.1670+6_1670+7insAAC http://identifiers.org/clinvar/298777 ^@ NM_005445.3(SMC3):c.3259G>A (p.Val1087Ile) http://identifiers.org/clinvar/298784 ^@ NM_005445.3(SMC3):c.*332A>G http://identifiers.org/clinvar/358496 ^@ NM_000441.1(SLC26A4):c.872G>A (p.Arg291Gln) http://identifiers.org/clinvar/358497 ^@ NM_000441.1(SLC26A4):c.887T>A (p.Ile296Asn) http://identifiers.org/clinvar/358502 ^@ NM_000441.1(SLC26A4):c.2018T>G (p.Val673Gly) http://identifiers.org/clinvar/363346 ^@ NM_017813.4(IMPAD1):c.*3876T>A http://identifiers.org/clinvar/358695 ^@ NM_001127500.2(MET):c.*41A>G http://identifiers.org/clinvar/358700 ^@ NM_001127500.2(MET):c.*221G>A http://identifiers.org/clinvar/358503 ^@ NM_000441.1(SLC26A4):c.2135A>G (p.Asn712Ser) http://identifiers.org/clinvar/358506 ^@ NM_000441.1(SLC26A4):c.*239C>T http://identifiers.org/clinvar/358507 ^@ NM_000441.1(SLC26A4):c.*343C>A http://identifiers.org/clinvar/363347 ^@ NM_017813.4(IMPAD1):c.*3815_*3818delGTCT http://identifiers.org/clinvar/363349 ^@ NM_017813.4(IMPAD1):c.*3673A>G http://identifiers.org/clinvar/358702 ^@ NM_001127500.2(MET):c.*385G>A http://identifiers.org/clinvar/358708 ^@ NM_001127500.2(MET):c.*787G>A http://identifiers.org/clinvar/358513 ^@ NM_000441.1(SLC26A4):c.*791A>G http://identifiers.org/clinvar/358710 ^@ NM_001127500.2(MET):c.*984C>T http://identifiers.org/clinvar/358521 ^@ NM_000441.1(SLC26A4):c.*1584dupA http://identifiers.org/clinvar/358534 ^@ NM_000111.2(SLC26A3):c.2272-3delC http://identifiers.org/clinvar/358712 ^@ NM_001127500.2(MET):c.*1010G>T http://identifiers.org/clinvar/363362 ^@ NM_017813.4(IMPAD1):c.*2458G>T http://identifiers.org/clinvar/358536 ^@ NM_000111.2(SLC26A3):c.2155C>T (p.His719Tyr) http://identifiers.org/clinvar/363364 ^@ NM_017813.4(IMPAD1):c.*2417C>T http://identifiers.org/clinvar/298788 ^@ NM_001134363.2(RBM20):c.788A>G (p.Tyr263Cys) http://identifiers.org/clinvar/363377 ^@ NM_017813.4(IMPAD1):c.*1693A>C http://identifiers.org/clinvar/358537 ^@ NM_000111.2(SLC26A3):c.2092G>C (p.Glu698Gln) http://identifiers.org/clinvar/363378 ^@ NM_017813.4(IMPAD1):c.*1651G>A http://identifiers.org/clinvar/358541 ^@ NM_000111.2(SLC26A3):c.1677+10G>A http://identifiers.org/clinvar/358548 ^@ NM_000111.2(SLC26A3):c.921T>G (p.Cys307Trp) http://identifiers.org/clinvar/358713 ^@ NM_001127500.2(MET):c.*1028A>G http://identifiers.org/clinvar/358714 ^@ NM_001127500.2(MET):c.*1220G>A http://identifiers.org/clinvar/298789 ^@ NM_001134363.2(RBM20):c.874G>T (p.Val292Leu) http://identifiers.org/clinvar/363384 ^@ NM_017813.4(IMPAD1):c.*1276A>G http://identifiers.org/clinvar/358556 ^@ NM_000111.2(SLC26A3):c.570+8C>T http://identifiers.org/clinvar/298807 ^@ NM_001134363.2(RBM20):c.*263C>T http://identifiers.org/clinvar/298818 ^@ NM_001134363.2(RBM20):c.*627_*628delCT http://identifiers.org/clinvar/358557 ^@ NM_000111.2(SLC26A3):c.510T>G (p.Asp170Glu) http://identifiers.org/clinvar/358559 ^@ NM_000111.2(SLC26A3):c.241A>G (p.Ile81Val) http://identifiers.org/clinvar/363389 ^@ NM_017813.4(IMPAD1):c.*1018T>C http://identifiers.org/clinvar/298825 ^@ NM_001134363.2(RBM20):c.*1098dupC http://identifiers.org/clinvar/298826 ^@ NM_001134363.2(RBM20):c.*1104G>A http://identifiers.org/clinvar/363391 ^@ NM_017813.4(IMPAD1):c.*782G>A http://identifiers.org/clinvar/363392 ^@ NM_017813.4(IMPAD1):c.*764C>T http://identifiers.org/clinvar/363394 ^@ NM_017813.4(IMPAD1):c.*504_*506delTGT http://identifiers.org/clinvar/358721 ^@ NM_001127500.2(MET):c.*1784T>A http://identifiers.org/clinvar/298829 ^@ NM_001134363.2(RBM20):c.*1360G>A http://identifiers.org/clinvar/358722 ^@ NM_001127500.2(MET):c.*1809C>T http://identifiers.org/clinvar/298843 ^@ NM_001134363.2(RBM20):c.*2442G>A http://identifiers.org/clinvar/358733 ^@ NM_000492.3(CFTR):c.2973A>G (p.Ile991Met) http://identifiers.org/clinvar/358737 ^@ NM_000492.3(CFTR):c.*133delT http://identifiers.org/clinvar/358563 ^@ NM_000108.4(DLD):c.-8G>T http://identifiers.org/clinvar/363396 ^@ NM_017813.4(IMPAD1):c.*396A>T http://identifiers.org/clinvar/358571 ^@ NM_000108.4(DLD):c.1465-7C>G http://identifiers.org/clinvar/358574 ^@ NM_000108.4(DLD):c.*167T>C http://identifiers.org/clinvar/298847 ^@ NM_001134363.2(RBM20):c.*2737G>A http://identifiers.org/clinvar/358577 ^@ NM_000108.4(DLD):c.*355A>G http://identifiers.org/clinvar/358582 ^@ NM_000108.4(DLD):c.*855C>T http://identifiers.org/clinvar/363398 ^@ NM_017813.4(IMPAD1):c.*286_*288delCTAinsTATGAGTCACCATTGACTCATTGTTATGAGT http://identifiers.org/clinvar/298848 ^@ NM_001134363.2(RBM20):c.*2787A>T http://identifiers.org/clinvar/298858 ^@ NM_001134363.2(RBM20):c.*3296T>G http://identifiers.org/clinvar/363400 ^@ NM_017813.4(IMPAD1):c.*70G>T http://identifiers.org/clinvar/298868 ^@ NM_007373.3(SHOC2):c.*518T>C http://identifiers.org/clinvar/298872 ^@ NM_007373.3(SHOC2):c.*697C>T http://identifiers.org/clinvar/358598 ^@ NM_014491.3(FOXP2):c.-170T>C http://identifiers.org/clinvar/298873 ^@ NM_007373.3(SHOC2):c.*773G>A http://identifiers.org/clinvar/358742 ^@ NM_000492.3(CFTR):c.*684A>G http://identifiers.org/clinvar/298878 ^@ NM_007373.3(SHOC2):c.*1218C>T http://identifiers.org/clinvar/298891 ^@ NM_004132.4(HABP2):c.-71T>C http://identifiers.org/clinvar/298890 ^@ NM_004132.4(HABP2):c.-70delT http://identifiers.org/clinvar/363401 ^@ NM_017813.4(IMPAD1):c.*14C>T http://identifiers.org/clinvar/363406 ^@ NM_017813.4(IMPAD1):c.687C>T (p.Arg229=) http://identifiers.org/clinvar/363413 ^@ NM_017813.4(IMPAD1):c.-155C>G http://identifiers.org/clinvar/298901 ^@ NM_004132.4(HABP2):c.396C>T (p.Pro132=) http://identifiers.org/clinvar/363414 ^@ NM_017813.4(IMPAD1):c.-169C>T http://identifiers.org/clinvar/358601 ^@ NM_014491.3(FOXP2):c.52A>G (p.Asn18Asp) http://identifiers.org/clinvar/363417 ^@ NM_017813.4(IMPAD1):c.-279T>C http://identifiers.org/clinvar/358602 ^@ NM_014491.3(FOXP2):c.183A>G (p.Ala61=) http://identifiers.org/clinvar/298903 ^@ NM_004132.4(HABP2):c.497C>T (p.Ser166Phe) http://identifiers.org/clinvar/298905 ^@ NM_004132.4(HABP2):c.568+9C>T http://identifiers.org/clinvar/363420 ^@ NM_017780.3(CHD7):c.-481G>A http://identifiers.org/clinvar/363418 ^@ NM_017780.3(CHD7):c.-472_-467dupGGCGGC http://identifiers.org/clinvar/363424 ^@ NM_017780.3(CHD7):c.-467_-466insGGCAGC http://identifiers.org/clinvar/298906 ^@ NM_004132.4(HABP2):c.752C>T (p.Ala251Val) http://identifiers.org/clinvar/298909 ^@ NM_004132.4(HABP2):c.905G>A (p.Gly302Glu) http://identifiers.org/clinvar/298914 ^@ NM_004132.4(HABP2):c.1048G>A (p.Ala350Thr) http://identifiers.org/clinvar/358746 ^@ NM_000492.3(CFTR):c.*1043A>C http://identifiers.org/clinvar/358753 ^@ NM_012338.3(TSPAN12):c.*1139A>T http://identifiers.org/clinvar/358604 ^@ NM_014491.3(FOXP2):c.342T>C (p.Ser114=) http://identifiers.org/clinvar/298915 ^@ NM_004132.4(HABP2):c.1050G>A (p.Ala350=) http://identifiers.org/clinvar/358607 ^@ NM_014491.3(FOXP2):c.1494T>C (p.Tyr498=) http://identifiers.org/clinvar/298920 ^@ NM_004132.4(HABP2):c.1542C>T (p.Thr514=) http://identifiers.org/clinvar/358610 ^@ NM_014491.3(FOXP2):c.1770-12T>A http://identifiers.org/clinvar/358613 ^@ NM_014491.3(FOXP2):c.*80A>G http://identifiers.org/clinvar/298922 ^@ NM_004132.4(HABP2):c.1561T>C (p.Tyr521His) http://identifiers.org/clinvar/358619 ^@ NM_014491.3(FOXP2):c.*206T>C http://identifiers.org/clinvar/298929 ^@ NM_004132.4(HABP2):c.*527C>T http://identifiers.org/clinvar/358620 ^@ NM_014491.3(FOXP2):c.*207T>C http://identifiers.org/clinvar/358625 ^@ NM_014491.3(FOXP2):c.*260delA http://identifiers.org/clinvar/363433 ^@ NM_017780.3(CHD7):c.-466A>G http://identifiers.org/clinvar/298934 ^@ NM_004132.4(HABP2):c.*765C>T http://identifiers.org/clinvar/358629 ^@ NM_014491.3(FOXP2):c.*388G>A http://identifiers.org/clinvar/363429 ^@ NM_017780.3(CHD7):c.-466delAinsGGCGGCGGCGGCGGCGGCG http://identifiers.org/clinvar/363430 ^@ NM_017780.3(CHD7):c.-466delAinsGGCGGCGGCGGCGGCGGCGGCG http://identifiers.org/clinvar/358630 ^@ NM_014491.3(FOXP2):c.*449_*451delCTG http://identifiers.org/clinvar/358757 ^@ NM_012338.3(TSPAN12):c.*334A>T http://identifiers.org/clinvar/358633 ^@ NM_014491.3(FOXP2):c.*832A>C http://identifiers.org/clinvar/298939 ^@ NM_004132.4(HABP2):c.*919T>G http://identifiers.org/clinvar/358640 ^@ NM_014491.3(FOXP2):c.*1868T>C http://identifiers.org/clinvar/358765 ^@ NM_012338.3(TSPAN12):c.-43G>A http://identifiers.org/clinvar/358772 ^@ NM_012338.3(TSPAN12):c.-314G>T http://identifiers.org/clinvar/358641 ^@ NM_014491.3(FOXP2):c.*1944C>T http://identifiers.org/clinvar/358780 ^@ NM_006193.2(PAX4):c.*516_*517delAC http://identifiers.org/clinvar/358776 ^@ NM_006193.2(PAX4):c.*516_*517dupAC http://identifiers.org/clinvar/358787 ^@ NM_006193.2(PAX4):c.*477C>T http://identifiers.org/clinvar/358786 ^@ NM_006193.2(PAX4):c.*474_*477dupATGC http://identifiers.org/clinvar/363431 ^@ NM_017780.3(CHD7):c.-466delAinsGGCGGCGGCGGCGGCGGCGGCGGCG http://identifiers.org/clinvar/363435 ^@ NM_017780.3(CHD7):c.-327C>G http://identifiers.org/clinvar/363436 ^@ NM_017780.3(CHD7):c.-298C>A http://identifiers.org/clinvar/358642 ^@ NM_014491.3(FOXP2):c.*1945G>A http://identifiers.org/clinvar/363442 ^@ NM_017780.3(CHD7):c.575A>G (p.Tyr192Cys) http://identifiers.org/clinvar/358651 ^@ NM_014491.3(FOXP2):c.*2082A>G http://identifiers.org/clinvar/358789 ^@ NM_006193.2(PAX4):c.*402T>C http://identifiers.org/clinvar/358801 ^@ NM_006193.2(PAX4):c.574C>A (p.Arg192Ser) http://identifiers.org/clinvar/298940 ^@ NM_004132.4(HABP2):c.*1039T>C http://identifiers.org/clinvar/298959 ^@ NM_004281.3(BAG3):c.1214C>T (p.Ala405Val) http://identifiers.org/clinvar/358662 ^@ NM_014491.3(FOXP2):c.*3220A>C http://identifiers.org/clinvar/298964 ^@ NM_004281.3(BAG3):c.1667C>A (p.Ala556Glu) http://identifiers.org/clinvar/298973 ^@ NM_004281.3(BAG3):c.*535A>G http://identifiers.org/clinvar/298974 ^@ NM_000141.4(FGFR2):c.*1498_*1502delATAAA http://identifiers.org/clinvar/363448 ^@ NM_017780.3(CHD7):c.1977C>T (p.Pro659=) http://identifiers.org/clinvar/298976 ^@ NM_000141.4(FGFR2):c.*1402T>C http://identifiers.org/clinvar/358802 ^@ NM_006193.2(PAX4):c.548G>A (p.Arg183His) http://identifiers.org/clinvar/358805 ^@ NM_006193.2(PAX4):c.379C>G (p.Gln127Glu) http://identifiers.org/clinvar/298977 ^@ NM_000141.4(FGFR2):c.*1369C>T http://identifiers.org/clinvar/298988 ^@ NM_000141.4(FGFR2):c.*469G>A http://identifiers.org/clinvar/298991 ^@ NM_000141.4(FGFR2):c.*259C>T http://identifiers.org/clinvar/298994 ^@ NM_000141.4(FGFR2):c.*111G>A http://identifiers.org/clinvar/363451 ^@ NM_017780.3(CHD7):c.2189C>T (p.Thr730Ile) http://identifiers.org/clinvar/298999 ^@ NM_000141.4(FGFR2):c.1673-12C>T http://identifiers.org/clinvar/299013 ^@ NM_000141.4(FGFR2):c.-128G>A http://identifiers.org/clinvar/358673 ^@ NM_014491.3(FOXP2):c.*3683C>T http://identifiers.org/clinvar/358808 ^@ NM_006193.2(PAX4):c.92G>A (p.Arg31Gln) http://identifiers.org/clinvar/358810 ^@ NM_006193.2(PAX4):c.-112C>T http://identifiers.org/clinvar/358811 ^@ NM_006193.2(PAX4):c.-187C>A http://identifiers.org/clinvar/358815 ^@ NM_000230.2(LEP):c.21C>T (p.Cys7=) http://identifiers.org/clinvar/358676 ^@ NM_014491.3(FOXP2):c.*3822C>T http://identifiers.org/clinvar/363454 ^@ NM_017780.3(CHD7):c.2613+4C>T http://identifiers.org/clinvar/358679 ^@ NM_001127500.2(MET):c.-157T>G http://identifiers.org/clinvar/363455 ^@ NM_017780.3(CHD7):c.2787C>T (p.Ile929=) http://identifiers.org/clinvar/358680 ^@ NM_001127500.2(MET):c.-66G>T http://identifiers.org/clinvar/358820 ^@ NM_000230.2(LEP):c.*34G>A http://identifiers.org/clinvar/299015 ^@ NM_000141.4(FGFR2):c.-135C>T http://identifiers.org/clinvar/358821 ^@ NM_000230.2(LEP):c.*69A>G http://identifiers.org/clinvar/358826 ^@ NM_000230.2(LEP):c.*366A>T http://identifiers.org/clinvar/358830 ^@ NM_000230.2(LEP):c.*992G>T http://identifiers.org/clinvar/358833 ^@ NM_000230.2(LEP):c.*1243A>G http://identifiers.org/clinvar/358682 ^@ NM_001127500.2(MET):c.12C>T (p.Pro4=) http://identifiers.org/clinvar/299018 ^@ NM_000141.4(FGFR2):c.-236G>C http://identifiers.org/clinvar/299021 ^@ NM_000141.4(FGFR2):c.-318G>C http://identifiers.org/clinvar/299025 ^@ NM_000141.4(FGFR2):c.-535G>C http://identifiers.org/clinvar/358683 ^@ NM_001127500.2(MET):c.1011G>A (p.Leu337=) http://identifiers.org/clinvar/358693 ^@ NM_001127500.2(MET):c.3577-12C>G http://identifiers.org/clinvar/299031 ^@ NM_001099667.1(ARMS2):c.298-13A>G http://identifiers.org/clinvar/358698 ^@ NM_001127500.2(MET):c.*105C>A http://identifiers.org/clinvar/358701 ^@ NM_001127500.2(MET):c.*231T>G http://identifiers.org/clinvar/358704 ^@ NM_001127500.2(MET):c.*602C>T http://identifiers.org/clinvar/363456 ^@ NM_017780.3(CHD7):c.2820G>A (p.Pro940=) http://identifiers.org/clinvar/358719 ^@ NM_001127500.2(MET):c.*1593G>A http://identifiers.org/clinvar/299033 ^@ NM_001099667.1(ARMS2):c.298-4delT http://identifiers.org/clinvar/299036 ^@ NM_001099667.1(ARMS2):c.*204C>A http://identifiers.org/clinvar/358723 ^@ NM_001127500.2(MET):c.*1882G>T http://identifiers.org/clinvar/358728 ^@ NM_001127500.2(MET):c.*2134T>A http://identifiers.org/clinvar/358729 ^@ NM_001127500.2(MET):c.*2202G>A http://identifiers.org/clinvar/358736 ^@ NM_000492.3(CFTR):c.*124_*125insC http://identifiers.org/clinvar/299039 ^@ NM_001099667.1(ARMS2):c.*376T>C http://identifiers.org/clinvar/363457 ^@ NM_017780.3(CHD7):c.2824A>G (p.Thr942Ala) http://identifiers.org/clinvar/299040 ^@ NM_001099667.1(ARMS2):c.*377dupA http://identifiers.org/clinvar/299046 ^@ NM_002775.4(HTRA1):c.245C>G (p.Pro82Arg) http://identifiers.org/clinvar/363458 ^@ NM_017780.3(CHD7):c.3222C>T (p.Ser1074=) http://identifiers.org/clinvar/299047 ^@ NM_002775.4(HTRA1):c.385C>T (p.Leu129=) http://identifiers.org/clinvar/358837 ^@ NM_000230.2(LEP):c.*1640C>T http://identifiers.org/clinvar/358838 ^@ NM_000230.2(LEP):c.*1678C>T http://identifiers.org/clinvar/363460 ^@ NM_017780.3(CHD7):c.3779-10A>G http://identifiers.org/clinvar/299050 ^@ NM_002775.4(HTRA1):c.843C>T (p.Ala281=) http://identifiers.org/clinvar/358738 ^@ NM_000492.3(CFTR):c.*144C>T http://identifiers.org/clinvar/299054 ^@ NM_002775.4(HTRA1):c.1274+8G>A http://identifiers.org/clinvar/299058 ^@ NM_002775.4(HTRA1):c.*296C>G http://identifiers.org/clinvar/358744 ^@ NM_000492.3(CFTR):c.*881C>T http://identifiers.org/clinvar/363465 ^@ NM_017780.3(CHD7):c.5343T>C (p.Val1781=) http://identifiers.org/clinvar/358843 ^@ NM_000230.2(LEP):c.*2224G>A http://identifiers.org/clinvar/358844 ^@ NM_000230.2(LEP):c.*2234G>A http://identifiers.org/clinvar/358846 ^@ NM_000230.2(LEP):c.*2267A>C http://identifiers.org/clinvar/299061 ^@ NM_001609.3(ACADSB):c.-107G>A http://identifiers.org/clinvar/299071 ^@ NM_001609.3(ACADSB):c.95T>A (p.Val32Asp) http://identifiers.org/clinvar/358748 ^@ NM_000492.3(CFTR):c.*1251C>T http://identifiers.org/clinvar/299073 ^@ NM_001609.3(ACADSB):c.429C>T (p.Asn143=) http://identifiers.org/clinvar/358849 ^@ NM_000230.2(LEP):c.*2579G>A http://identifiers.org/clinvar/299075 ^@ NM_001609.3(ACADSB):c.621G>A (p.Trp207Ter) http://identifiers.org/clinvar/299079 ^@ NM_001609.3(ACADSB):c.786G>A (p.Pro262=) http://identifiers.org/clinvar/363469 ^@ NM_017780.3(CHD7):c.5759A>G (p.Tyr1920Cys) http://identifiers.org/clinvar/299080 ^@ NM_001609.3(ACADSB):c.795C>T (p.Phe265=) http://identifiers.org/clinvar/358751 ^@ NM_012338.3(TSPAN12):c.*1270T>G http://identifiers.org/clinvar/358755 ^@ NM_012338.3(TSPAN12):c.*998G>A http://identifiers.org/clinvar/363473 ^@ NM_017780.3(CHD7):c.6353A>G (p.Asn2118Ser) http://identifiers.org/clinvar/299096 ^@ NM_001609.3(ACADSB):c.*78C>T http://identifiers.org/clinvar/358851 ^@ NM_000230.2(LEP):c.*2595C>T http://identifiers.org/clinvar/299102 ^@ NM_001609.3(ACADSB):c.*323G>A http://identifiers.org/clinvar/299103 ^@ NM_001609.3(ACADSB):c.*358T>C http://identifiers.org/clinvar/358856 ^@ NM_000230.2(LEP):c.*2819_*2822dupAAAA http://identifiers.org/clinvar/358855 ^@ NM_000230.2(LEP):c.*2820_*2822dupAAA http://identifiers.org/clinvar/299107 ^@ NM_001609.3(ACADSB):c.*973A>G http://identifiers.org/clinvar/358761 ^@ NM_012338.3(TSPAN12):c.457T>C (p.Phe153Leu) http://identifiers.org/clinvar/299108 ^@ NM_001609.3(ACADSB):c.*1195C>A http://identifiers.org/clinvar/358763 ^@ NM_012338.3(TSPAN12):c.360+9A>G http://identifiers.org/clinvar/358767 ^@ NM_012338.3(TSPAN12):c.-214G>A http://identifiers.org/clinvar/363477 ^@ NM_017780.3(CHD7):c.7044T>G (p.Gly2348=) http://identifiers.org/clinvar/299109 ^@ NM_001609.3(ACADSB):c.*1200A>T http://identifiers.org/clinvar/363479 ^@ NM_017780.3(CHD7):c.7481C>T (p.Thr2494Ile) http://identifiers.org/clinvar/358768 ^@ NM_012338.3(TSPAN12):c.-245dupT http://identifiers.org/clinvar/363485 ^@ NM_017780.3(CHD7):c.8610G>T (p.Ala2870=) http://identifiers.org/clinvar/299119 ^@ NM_001609.3(ACADSB):c.*1868C>G http://identifiers.org/clinvar/299127 ^@ NM_001609.3(ACADSB):c.*2174A>G http://identifiers.org/clinvar/299129 ^@ NM_001609.3(ACADSB):c.*2224A>C http://identifiers.org/clinvar/358859 ^@ NM_000883.3(IMPDH1):c.*631C>T http://identifiers.org/clinvar/358862 ^@ NM_000883.3(IMPDH1):c.*321G>A http://identifiers.org/clinvar/358866 ^@ NM_000883.3(IMPDH1):c.*231C>G http://identifiers.org/clinvar/358872 ^@ NM_000883.3(IMPDH1):c.1653C>T (p.His551=) http://identifiers.org/clinvar/358873 ^@ NM_000883.3(IMPDH1):c.1575G>A (p.Ala525=) http://identifiers.org/clinvar/299138 ^@ NM_001609.3(ACADSB):c.*2803T>C http://identifiers.org/clinvar/299146 ^@ NM_001609.3(ACADSB):c.*3390C>A http://identifiers.org/clinvar/363486 ^@ NM_017780.3(CHD7):c.8740G>A (p.Gly2914Arg) http://identifiers.org/clinvar/363487 ^@ NM_017780.3(CHD7):c.8855C>G (p.Thr2952Ser) http://identifiers.org/clinvar/358877 ^@ NM_000883.3(IMPDH1):c.888C>T (p.Ile296=) http://identifiers.org/clinvar/299147 ^@ NM_001609.3(ACADSB):c.*3431C>G http://identifiers.org/clinvar/358880 ^@ NM_000883.3(IMPDH1):c.146+9C>T http://identifiers.org/clinvar/358888 ^@ NM_018718.2(CEP41):c.*4866C>T http://identifiers.org/clinvar/358779 ^@ NM_006193.2(PAX4):c.*514_*517dupACAC http://identifiers.org/clinvar/299152 ^@ NM_001609.3(ACADSB):c.*3819A>G http://identifiers.org/clinvar/358781 ^@ NM_006193.2(PAX4):c.*492_*497delGCACAC http://identifiers.org/clinvar/363496 ^@ NM_017780.3(CHD7):c.*622G>A http://identifiers.org/clinvar/299155 ^@ NM_001609.3(ACADSB):c.*3941C>A http://identifiers.org/clinvar/363505 ^@ NM_017780.3(CHD7):c.*1502G>A http://identifiers.org/clinvar/299159 ^@ NM_001609.3(ACADSB):c.*4426T>C http://identifiers.org/clinvar/358893 ^@ NM_018718.2(CEP41):c.*4391G>A http://identifiers.org/clinvar/299161 ^@ NM_000274.3(OAT):c.*561G>A http://identifiers.org/clinvar/358896 ^@ NM_018718.2(CEP41):c.*4295G>C http://identifiers.org/clinvar/358907 ^@ NM_018718.2(CEP41):c.*3451G>A http://identifiers.org/clinvar/358909 ^@ NM_018718.2(CEP41):c.*3193C>T http://identifiers.org/clinvar/299164 ^@ NM_000274.3(OAT):c.*275A>G http://identifiers.org/clinvar/299167 ^@ NM_000274.3(OAT):c.*35C>T http://identifiers.org/clinvar/358915 ^@ NM_018718.2(CEP41):c.*2389G>A http://identifiers.org/clinvar/358917 ^@ NM_018718.2(CEP41):c.*2194C>T http://identifiers.org/clinvar/358921 ^@ NM_018718.2(CEP41):c.*1859G>T http://identifiers.org/clinvar/363507 ^@ NM_017780.3(CHD7):c.*1579A>G http://identifiers.org/clinvar/358927 ^@ NM_018718.2(CEP41):c.*1384delA http://identifiers.org/clinvar/358928 ^@ NM_018718.2(CEP41):c.*1357delC http://identifiers.org/clinvar/358783 ^@ NM_006193.2(PAX4):c.*493_*494insGCAC http://identifiers.org/clinvar/299170 ^@ NM_000274.3(OAT):c.639C>T (p.Pro213=) http://identifiers.org/clinvar/358788 ^@ NM_006193.2(PAX4):c.*473_*476dupTATG http://identifiers.org/clinvar/358929 ^@ NM_018718.2(CEP41):c.*1056A>C http://identifiers.org/clinvar/299172 ^@ NM_000274.3(OAT):c.200-10T>C http://identifiers.org/clinvar/299175 ^@ NM_000274.3(OAT):c.-4C>G http://identifiers.org/clinvar/358930 ^@ NM_018718.2(CEP41):c.*859G>A http://identifiers.org/clinvar/299185 ^@ NM_000375.2(UROS):c.*37G>T http://identifiers.org/clinvar/363509 ^@ NM_017780.3(CHD7):c.*1665_*1666delAG http://identifiers.org/clinvar/363512 ^@ NM_017780.3(CHD7):c.*1788C>T http://identifiers.org/clinvar/299187 ^@ NM_000375.2(UROS):c.691G>A (p.Ala231Thr) http://identifiers.org/clinvar/299192 ^@ NM_000375.2(UROS):c.327A>C (p.Lys109Asn) http://identifiers.org/clinvar/299199 ^@ NM_000375.2(UROS):c.-232G>A http://identifiers.org/clinvar/363513 ^@ NM_017780.3(CHD7):c.*1797C>T http://identifiers.org/clinvar/363534 ^@ NM_000370.3(TTPA):c.*1481_*1484delATAA http://identifiers.org/clinvar/358931 ^@ NM_018718.2(CEP41):c.*805A>G http://identifiers.org/clinvar/358934 ^@ NM_018718.2(CEP41):c.*680G>A http://identifiers.org/clinvar/363539 ^@ NM_000370.3(TTPA):c.*1365A>C http://identifiers.org/clinvar/363543 ^@ NM_000370.3(TTPA):c.*1093G>A http://identifiers.org/clinvar/299204 ^@ NM_021980.4(OPTN):c.-120G>T http://identifiers.org/clinvar/299205 ^@ NM_021980.4(OPTN):c.-103C>G http://identifiers.org/clinvar/299208 ^@ NM_021980.4(OPTN):c.-12+13A>G http://identifiers.org/clinvar/299214 ^@ NM_021980.4(OPTN):c.447G>A (p.Arg149=) http://identifiers.org/clinvar/363547 ^@ NM_000370.3(TTPA):c.*776C>T http://identifiers.org/clinvar/363548 ^@ NM_000370.3(TTPA):c.*735T>C http://identifiers.org/clinvar/363549 ^@ NM_000370.3(TTPA):c.*576_*578delTTT http://identifiers.org/clinvar/358943 ^@ NM_018718.2(CEP41):c.422+6C>T http://identifiers.org/clinvar/299220 ^@ NM_021980.4(OPTN):c.1427A>G (p.His476Arg) http://identifiers.org/clinvar/363556 ^@ NM_000370.3(TTPA):c.*239C>T http://identifiers.org/clinvar/299226 ^@ NM_021980.4(OPTN):c.*269C>T http://identifiers.org/clinvar/363516 ^@ NM_024596.4(MCPH1):c.-41A>C http://identifiers.org/clinvar/363523 ^@ NM_024596.4(MCPH1):c.869A>T (p.Lys290Ile) http://identifiers.org/clinvar/363530 ^@ NM_024596.4(MCPH1):c.1876G>A (p.Gly626Ser) http://identifiers.org/clinvar/358790 ^@ NM_006193.2(PAX4):c.*287C>T http://identifiers.org/clinvar/299233 ^@ NM_021980.4(OPTN):c.*1042T>G http://identifiers.org/clinvar/358945 ^@ NM_018718.2(CEP41):c.53C>T (p.Pro18Leu) http://identifiers.org/clinvar/358948 ^@ NM_018718.2(CEP41):c.-178C>T http://identifiers.org/clinvar/358793 ^@ NM_006193.2(PAX4):c.*66C>T http://identifiers.org/clinvar/299237 ^@ NM_021980.4(OPTN):c.*1285T>C http://identifiers.org/clinvar/299239 ^@ NM_006214.3(PHYH):c.*189delA http://identifiers.org/clinvar/358952 ^@ NM_005989.3(AKR1D1):c.21T>G (p.Ser7Arg) http://identifiers.org/clinvar/358794 ^@ NM_006193.2(PAX4):c.*33A>C http://identifiers.org/clinvar/299240 ^@ NM_006214.3(PHYH):c.*65G>A http://identifiers.org/clinvar/358795 ^@ NM_006193.2(PAX4):c.1000C>T (p.Pro334Ser) http://identifiers.org/clinvar/299250 ^@ NM_006214.3(PHYH):c.606C>A (p.Asn202Lys) http://identifiers.org/clinvar/363577 ^@ NM_004820.4(CYP7B1):c.*111G>A http://identifiers.org/clinvar/363578 ^@ NM_004820.4(CYP7B1):c.1323G>A (p.Pro441=) http://identifiers.org/clinvar/358954 ^@ NM_005989.3(AKR1D1):c.346C>G (p.Leu116Val) http://identifiers.org/clinvar/299255 ^@ NM_006214.3(PHYH):c.356C>T (p.Thr119Met) http://identifiers.org/clinvar/299261 ^@ NM_006214.3(PHYH):c.93A>C (p.Ser31=) http://identifiers.org/clinvar/358957 ^@ NM_005989.3(AKR1D1):c.*48C>T http://identifiers.org/clinvar/358959 ^@ NM_005989.3(AKR1D1):c.*197G>T http://identifiers.org/clinvar/358970 ^@ NM_005989.3(AKR1D1):c.*1082G>C http://identifiers.org/clinvar/358806 ^@ NM_006193.2(PAX4):c.289C>T (p.Arg97Cys) http://identifiers.org/clinvar/358807 ^@ NM_006193.2(PAX4):c.236G>A (p.Arg79Gln) http://identifiers.org/clinvar/363579 ^@ NM_004820.4(CYP7B1):c.1310G>A (p.Cys437Tyr) http://identifiers.org/clinvar/363584 ^@ NM_004820.4(CYP7B1):c.929G>A (p.Arg310Gln) http://identifiers.org/clinvar/363590 ^@ NM_004820.4(CYP7B1):c.92T>A (p.Leu31Gln) http://identifiers.org/clinvar/358971 ^@ NM_005989.3(AKR1D1):c.*1083T>C http://identifiers.org/clinvar/363593 ^@ NM_004820.4(CYP7B1):c.-89C>G http://identifiers.org/clinvar/363563 ^@ NM_024596.4(MCPH1):c.2395C>T (p.Pro799Ser) http://identifiers.org/clinvar/363570 ^@ NM_024596.4(MCPH1):c.*285G>A http://identifiers.org/clinvar/358974 ^@ NM_005989.3(AKR1D1):c.*1093C>G http://identifiers.org/clinvar/358977 ^@ NM_005989.3(AKR1D1):c.*1149A>C http://identifiers.org/clinvar/358979 ^@ NM_005989.3(AKR1D1):c.*1153C>G http://identifiers.org/clinvar/358980 ^@ NM_005989.3(AKR1D1):c.*1153C>T http://identifiers.org/clinvar/363572 ^@ NM_024596.4(MCPH1):c.*457C>G http://identifiers.org/clinvar/299262 ^@ NM_006214.3(PHYH):c.76-9A>T http://identifiers.org/clinvar/363596 ^@ NM_020361.4(CPA6):c.*328A>G http://identifiers.org/clinvar/299267 ^@ NM_001033855.2(DCLRE1C):c.*1407C>T http://identifiers.org/clinvar/363602 ^@ NM_020361.4(CPA6):c.1126+13C>T http://identifiers.org/clinvar/363605 ^@ NM_020361.4(CPA6):c.932G>A (p.Arg311Gln) http://identifiers.org/clinvar/299269 ^@ NM_001033855.2(DCLRE1C):c.*1390T>G http://identifiers.org/clinvar/358987 ^@ NM_005989.3(AKR1D1):c.*1265A>G http://identifiers.org/clinvar/358994 ^@ NM_005989.3(AKR1D1):c.*1343C>T http://identifiers.org/clinvar/358818 ^@ NM_000230.2(LEP):c.212C>A (p.Thr71Asn) http://identifiers.org/clinvar/358825 ^@ NM_000230.2(LEP):c.*360G>A http://identifiers.org/clinvar/299276 ^@ NM_001033855.2(DCLRE1C):c.*1215C>T http://identifiers.org/clinvar/299280 ^@ NM_001033855.2(DCLRE1C):c.*975G>A http://identifiers.org/clinvar/358827 ^@ NM_000230.2(LEP):c.*400G>T http://identifiers.org/clinvar/358835 ^@ NM_000230.2(LEP):c.*1428C>A http://identifiers.org/clinvar/358845 ^@ NM_000230.2(LEP):c.*2253C>A http://identifiers.org/clinvar/363606 ^@ NM_020361.4(CPA6):c.797G>T (p.Arg266Leu) http://identifiers.org/clinvar/358997 ^@ NM_005989.3(AKR1D1):c.*1417C>T http://identifiers.org/clinvar/299281 ^@ NM_001033855.2(DCLRE1C):c.*949G>C http://identifiers.org/clinvar/358854 ^@ NM_000230.2(LEP):c.*2822dupA http://identifiers.org/clinvar/299289 ^@ NM_001033855.2(DCLRE1C):c.*759T>C http://identifiers.org/clinvar/358999 ^@ NM_020632.2(ATP6V0A4):c.*239G>A http://identifiers.org/clinvar/358857 ^@ NM_000883.3(IMPDH1):c.*722C>T http://identifiers.org/clinvar/299291 ^@ NM_001033855.2(DCLRE1C):c.*719dupA http://identifiers.org/clinvar/358864 ^@ NM_000883.3(IMPDH1):c.*258C>T http://identifiers.org/clinvar/363609 ^@ NM_020361.4(CPA6):c.538G>A (p.Gly180Ser) http://identifiers.org/clinvar/363613 ^@ NM_020361.4(CPA6):c.109T>C (p.Tyr37His) http://identifiers.org/clinvar/363615 ^@ NM_020361.4(CPA6):c.-11_-10delTT http://identifiers.org/clinvar/299292 ^@ NM_001033855.2(DCLRE1C):c.*616T>C http://identifiers.org/clinvar/299293 ^@ NM_001033855.2(DCLRE1C):c.*560dupA http://identifiers.org/clinvar/299300 ^@ NM_001033855.2(DCLRE1C):c.*482T>C http://identifiers.org/clinvar/363617 ^@ NM_020361.4(CPA6):c.-76T>G http://identifiers.org/clinvar/363627 ^@ NM_000503.5(EYA1):c.*1324T>C http://identifiers.org/clinvar/299302 ^@ NM_001033855.2(DCLRE1C):c.*391C>T http://identifiers.org/clinvar/299305 ^@ NM_001033855.2(DCLRE1C):c.*241_*242delAA http://identifiers.org/clinvar/299312 ^@ NM_001033855.2(DCLRE1C):c.1670C>T (p.Thr557Ile) http://identifiers.org/clinvar/299314 ^@ NM_001033855.2(DCLRE1C):c.1491T>C (p.Asp497=) http://identifiers.org/clinvar/363629 ^@ NM_000503.5(EYA1):c.*1275G>A http://identifiers.org/clinvar/299320 ^@ NM_001033855.2(DCLRE1C):c.550A>T (p.Ser184Cys) http://identifiers.org/clinvar/299324 ^@ NM_001081.3(CUBN):c.*794A>G http://identifiers.org/clinvar/299327 ^@ NM_001081.3(CUBN):c.*781C>T http://identifiers.org/clinvar/359000 ^@ NM_020632.2(ATP6V0A4):c.*162C>T http://identifiers.org/clinvar/359003 ^@ NM_020632.2(ATP6V0A4):c.*24T>A http://identifiers.org/clinvar/359005 ^@ NM_020632.2(ATP6V0A4):c.2403T>C (p.Ala801=) http://identifiers.org/clinvar/358865 ^@ NM_000883.3(IMPDH1):c.*256T>C http://identifiers.org/clinvar/359008 ^@ NM_020632.2(ATP6V0A4):c.2260C>A (p.Leu754Met) http://identifiers.org/clinvar/359011 ^@ NM_020632.2(ATP6V0A4):c.1956G>A (p.Pro652=) http://identifiers.org/clinvar/358868 ^@ NM_000883.3(IMPDH1):c.*223C>G http://identifiers.org/clinvar/358871 ^@ NM_000883.3(IMPDH1):c.1704G>A (p.Met568Ile) http://identifiers.org/clinvar/299329 ^@ NM_001081.3(CUBN):c.*734A>G http://identifiers.org/clinvar/358874 ^@ NM_000883.3(IMPDH1):c.1350C>T (p.Gly450=) http://identifiers.org/clinvar/299335 ^@ NM_001081.3(CUBN):c.*436C>A http://identifiers.org/clinvar/299339 ^@ NM_001081.3(CUBN):c.*330G>C http://identifiers.org/clinvar/358876 ^@ NM_000883.3(IMPDH1):c.987G>C (p.Leu329=) http://identifiers.org/clinvar/299342 ^@ NM_001081.3(CUBN):c.*305T>G http://identifiers.org/clinvar/299345 ^@ NM_001081.3(CUBN):c.*266C>T http://identifiers.org/clinvar/363630 ^@ NM_000503.5(EYA1):c.*1263C>T http://identifiers.org/clinvar/299346 ^@ NM_001081.3(CUBN):c.*203C>T http://identifiers.org/clinvar/363632 ^@ NM_000503.5(EYA1):c.*1222A>C http://identifiers.org/clinvar/363633 ^@ NM_000503.5(EYA1):c.*1135_*1138dupAGAA http://identifiers.org/clinvar/363634 ^@ NM_000503.5(EYA1):c.*901dupT http://identifiers.org/clinvar/299349 ^@ NM_001081.3(CUBN):c.*162G>A http://identifiers.org/clinvar/363638 ^@ NM_000503.5(EYA1):c.*770_*773dupGTTT http://identifiers.org/clinvar/299350 ^@ NM_001081.3(CUBN):c.*151G>A http://identifiers.org/clinvar/363639 ^@ NM_000503.5(EYA1):c.*705G>T http://identifiers.org/clinvar/363640 ^@ NM_000503.5(EYA1):c.*545C>T http://identifiers.org/clinvar/363644 ^@ NM_000503.5(EYA1):c.*117G>A http://identifiers.org/clinvar/359016 ^@ NM_020632.2(ATP6V0A4):c.1498A>G (p.Ser500Gly) http://identifiers.org/clinvar/359019 ^@ NM_020632.2(ATP6V0A4):c.1155C>T (p.Val385=) http://identifiers.org/clinvar/359020 ^@ NM_020632.2(ATP6V0A4):c.1098T>C (p.Phe366=) http://identifiers.org/clinvar/363645 ^@ NM_000503.5(EYA1):c.*86C>A http://identifiers.org/clinvar/299352 ^@ NM_001081.3(CUBN):c.*93C>A http://identifiers.org/clinvar/363653 ^@ NM_000503.5(EYA1):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/299354 ^@ NM_001081.3(CUBN):c.*45C>T http://identifiers.org/clinvar/358879 ^@ NM_000883.3(IMPDH1):c.737G>A (p.Arg246Gln) http://identifiers.org/clinvar/358885 ^@ NM_018718.2(CEP41):c.*4994T>C http://identifiers.org/clinvar/363654 ^@ NM_000503.5(EYA1):c.783G>A (p.Pro261=) http://identifiers.org/clinvar/299360 ^@ NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) http://identifiers.org/clinvar/299363 ^@ NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) http://identifiers.org/clinvar/358887 ^@ NM_018718.2(CEP41):c.*4908G>A http://identifiers.org/clinvar/358890 ^@ NM_018718.2(CEP41):c.*4599A>G http://identifiers.org/clinvar/358894 ^@ NM_018718.2(CEP41):c.*4365G>A http://identifiers.org/clinvar/359022 ^@ NM_020632.2(ATP6V0A4):c.946G>A (p.Val316Ile) http://identifiers.org/clinvar/299364 ^@ NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) http://identifiers.org/clinvar/363656 ^@ NM_000503.5(EYA1):c.743C>T (p.Thr248Met) http://identifiers.org/clinvar/358897 ^@ NM_018718.2(CEP41):c.*4244C>G http://identifiers.org/clinvar/363659 ^@ NM_000503.5(EYA1):c.557-12A>G http://identifiers.org/clinvar/363666 ^@ NM_000503.5(EYA1):c.-49A>G http://identifiers.org/clinvar/358898 ^@ NM_018718.2(CEP41):c.*4216C>T http://identifiers.org/clinvar/358899 ^@ NM_018718.2(CEP41):c.*4037A>G http://identifiers.org/clinvar/358902 ^@ NM_018718.2(CEP41):c.*3887C>G http://identifiers.org/clinvar/358911 ^@ NM_018718.2(CEP41):c.*3044A>G http://identifiers.org/clinvar/358912 ^@ NM_018718.2(CEP41):c.*2896G>A http://identifiers.org/clinvar/358913 ^@ NM_018718.2(CEP41):c.*2605C>T http://identifiers.org/clinvar/358914 ^@ NM_018718.2(CEP41):c.*2482A>T http://identifiers.org/clinvar/363667 ^@ NM_000503.5(EYA1):c.-75G>C http://identifiers.org/clinvar/299365 ^@ NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) http://identifiers.org/clinvar/363668 ^@ NM_000503.5(EYA1):c.-155G>A http://identifiers.org/clinvar/299366 ^@ NM_001081.3(CUBN):c.10181-14A>G http://identifiers.org/clinvar/363669 ^@ NM_000503.5(EYA1):c.-173G>T http://identifiers.org/clinvar/358918 ^@ NM_018718.2(CEP41):c.*2159C>T http://identifiers.org/clinvar/299370 ^@ NM_001081.3(CUBN):c.10076C>T (p.Ser3359Leu) http://identifiers.org/clinvar/299371 ^@ NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) http://identifiers.org/clinvar/359030 ^@ NM_020632.2(ATP6V0A4):c.419C>T (p.Thr140Met) http://identifiers.org/clinvar/359045 ^@ NM_004333.4(BRAF):c.2128-16_2128-15delCT http://identifiers.org/clinvar/359049 ^@ NM_004333.4(BRAF):c.981-14C>A http://identifiers.org/clinvar/299374 ^@ NM_001081.3(CUBN):c.9714T>C (p.Gly3238=) http://identifiers.org/clinvar/358951 ^@ NM_018718.2(CEP41):c.-244A>T http://identifiers.org/clinvar/299384 ^@ NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) http://identifiers.org/clinvar/299395 ^@ NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) http://identifiers.org/clinvar/299398 ^@ NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) http://identifiers.org/clinvar/358955 ^@ NM_005989.3(AKR1D1):c.446C>T (p.Ala149Val) http://identifiers.org/clinvar/358960 ^@ NM_005989.3(AKR1D1):c.*294C>A http://identifiers.org/clinvar/363670 ^@ NM_000503.5(EYA1):c.-191C>G http://identifiers.org/clinvar/299401 ^@ NM_001081.3(CUBN):c.8502G>A (p.Thr2834=) http://identifiers.org/clinvar/363671 ^@ NM_000503.5(EYA1):c.-192G>A http://identifiers.org/clinvar/359050 ^@ NM_018238.3(AGK):c.-162G>A http://identifiers.org/clinvar/299421 ^@ NM_001081.3(CUBN):c.7586G>A (p.Ser2529Asn) http://identifiers.org/clinvar/359052 ^@ NM_018238.3(AGK):c.-100G>A http://identifiers.org/clinvar/359055 ^@ NM_018238.3(AGK):c.-36G>A http://identifiers.org/clinvar/363680 ^@ NM_000503.5(EYA1):c.-563_-562delGA http://identifiers.org/clinvar/299429 ^@ NM_001081.3(CUBN):c.7069T>C (p.Tyr2357His) http://identifiers.org/clinvar/359057 ^@ NM_018238.3(AGK):c.424-5C>T http://identifiers.org/clinvar/358961 ^@ NM_005989.3(AKR1D1):c.*298A>G http://identifiers.org/clinvar/299433 ^@ NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) http://identifiers.org/clinvar/359058 ^@ NM_018238.3(AGK):c.424-4C>G http://identifiers.org/clinvar/299436 ^@ NM_001081.3(CUBN):c.6561G>A (p.Ser2187=) http://identifiers.org/clinvar/358962 ^@ NM_005989.3(AKR1D1):c.*362A>C http://identifiers.org/clinvar/299437 ^@ NM_001081.3(CUBN):c.6485G>A (p.Cys2162Tyr) http://identifiers.org/clinvar/299438 ^@ NM_001081.3(CUBN):c.6459G>C (p.Leu2153Phe) http://identifiers.org/clinvar/359062 ^@ NM_018238.3(AGK):c.763A>G (p.Thr255Ala) http://identifiers.org/clinvar/363681 ^@ NM_000503.5(EYA1):c.-565_-564delAA http://identifiers.org/clinvar/358963 ^@ NM_005989.3(AKR1D1):c.*373G>A http://identifiers.org/clinvar/358966 ^@ NM_005989.3(AKR1D1):c.*879T>C http://identifiers.org/clinvar/358967 ^@ NM_005989.3(AKR1D1):c.*897T>C http://identifiers.org/clinvar/363684 ^@ NM_000503.5(EYA1):c.-590C>A http://identifiers.org/clinvar/358968 ^@ NM_005989.3(AKR1D1):c.*914C>T http://identifiers.org/clinvar/363685 ^@ NM_017866.5(TMEM70):c.-95C>T http://identifiers.org/clinvar/299441 ^@ NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) http://identifiers.org/clinvar/299443 ^@ NM_001081.3(CUBN):c.6180G>A (p.Gly2060=) http://identifiers.org/clinvar/363698 ^@ NM_017866.5(TMEM70):c.*300A>G http://identifiers.org/clinvar/363702 ^@ NM_017866.5(TMEM70):c.*494T>C http://identifiers.org/clinvar/363708 ^@ NM_017866.5(TMEM70):c.*693C>T http://identifiers.org/clinvar/358969 ^@ NM_005989.3(AKR1D1):c.*944T>C http://identifiers.org/clinvar/299446 ^@ NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) http://identifiers.org/clinvar/359063 ^@ NM_018238.3(AGK):c.804C>T (p.Thr268=) http://identifiers.org/clinvar/359064 ^@ NM_018238.3(AGK):c.963G>A (p.Gln321=) http://identifiers.org/clinvar/359066 ^@ NM_018238.3(AGK):c.1098C>T (p.Leu366=) http://identifiers.org/clinvar/363714 ^@ NM_017866.5(TMEM70):c.*942G>C http://identifiers.org/clinvar/299451 ^@ NM_001081.3(CUBN):c.5911C>A (p.Pro1971Thr) http://identifiers.org/clinvar/358972 ^@ NM_005989.3(AKR1D1):c.*1085C>T http://identifiers.org/clinvar/299455 ^@ NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) http://identifiers.org/clinvar/359067 ^@ NM_018238.3(AGK):c.*82_*83delCA http://identifiers.org/clinvar/359068 ^@ NM_018238.3(AGK):c.*141C>T http://identifiers.org/clinvar/359070 ^@ NM_018238.3(AGK):c.*319delC http://identifiers.org/clinvar/359072 ^@ NM_018238.3(AGK):c.*357_*359delCTT http://identifiers.org/clinvar/363717 ^@ NM_017866.5(TMEM70):c.*1153G>A http://identifiers.org/clinvar/299462 ^@ NM_001081.3(CUBN):c.5343-8C>A http://identifiers.org/clinvar/359073 ^@ NM_018238.3(AGK):c.*365G>A http://identifiers.org/clinvar/299476 ^@ NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) http://identifiers.org/clinvar/359077 ^@ NM_018238.3(AGK):c.*992G>A http://identifiers.org/clinvar/358975 ^@ NM_005989.3(AKR1D1):c.*1095T>C http://identifiers.org/clinvar/363720 ^@ NM_018972.2(GDAP1):c.485-6T>C http://identifiers.org/clinvar/363725 ^@ NM_018972.2(GDAP1):c.*663T>C http://identifiers.org/clinvar/358983 ^@ NM_005989.3(AKR1D1):c.*1185G>A http://identifiers.org/clinvar/359082 ^@ NM_018238.3(AGK):c.*1233_*1236delAAGT http://identifiers.org/clinvar/358984 ^@ NM_005989.3(AKR1D1):c.*1199T>A http://identifiers.org/clinvar/299479 ^@ NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) http://identifiers.org/clinvar/358986 ^@ NM_005989.3(AKR1D1):c.*1219C>T http://identifiers.org/clinvar/299481 ^@ NM_001081.3(CUBN):c.4375T>G (p.Ser1459Ala) http://identifiers.org/clinvar/363731 ^@ NM_018972.2(GDAP1):c.*873T>C http://identifiers.org/clinvar/363732 ^@ NM_018972.2(GDAP1):c.*898A>G http://identifiers.org/clinvar/363737 ^@ NM_018972.2(GDAP1):c.*1124G>T http://identifiers.org/clinvar/363739 ^@ NM_018972.2(GDAP1):c.*1173G>T http://identifiers.org/clinvar/299482 ^@ NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) http://identifiers.org/clinvar/299495 ^@ NM_001081.3(CUBN):c.3008+9_3008+12dupATGT http://identifiers.org/clinvar/363745 ^@ NM_018972.2(GDAP1):c.*1489delA http://identifiers.org/clinvar/359083 ^@ NM_018238.3(AGK):c.*1237G>A http://identifiers.org/clinvar/299507 ^@ NM_001081.3(CUBN):c.2446+14_2446+15delTA http://identifiers.org/clinvar/363749 ^@ NM_018972.2(GDAP1):c.*1647C>T http://identifiers.org/clinvar/363750 ^@ NM_018972.2(GDAP1):c.*1701T>C http://identifiers.org/clinvar/363759 ^@ NM_018972.2(GDAP1):c.*2298A>G http://identifiers.org/clinvar/358988 ^@ NM_005989.3(AKR1D1):c.*1270T>C http://identifiers.org/clinvar/358995 ^@ NM_005989.3(AKR1D1):c.*1372dupA http://identifiers.org/clinvar/359002 ^@ NM_020632.2(ATP6V0A4):c.*73C>T http://identifiers.org/clinvar/363773 ^@ NM_000318.2(PEX2):c.*2518C>T http://identifiers.org/clinvar/299511 ^@ NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) http://identifiers.org/clinvar/299515 ^@ NM_001081.3(CUBN):c.2110+10C>G http://identifiers.org/clinvar/363778 ^@ NM_000318.2(PEX2):c.*2338C>T http://identifiers.org/clinvar/299517 ^@ NM_001081.3(CUBN):c.2013A>G (p.Pro671=) http://identifiers.org/clinvar/299519 ^@ NM_001081.3(CUBN):c.1911C>T (p.Leu637=) http://identifiers.org/clinvar/359010 ^@ NM_020632.2(ATP6V0A4):c.1977G>A (p.Pro659=) http://identifiers.org/clinvar/299520 ^@ NM_001081.3(CUBN):c.1811C>T (p.Pro604Leu) http://identifiers.org/clinvar/359086 ^@ NM_018238.3(AGK):c.*1319G>A http://identifiers.org/clinvar/299533 ^@ NM_001081.3(CUBN):c.939C>T (p.Asn313=) http://identifiers.org/clinvar/299537 ^@ NM_001081.3(CUBN):c.814G>A (p.Gly272Arg) http://identifiers.org/clinvar/359014 ^@ NM_020632.2(ATP6V0A4):c.1740G>A (p.Met580Ile) http://identifiers.org/clinvar/299551 ^@ NM_201590.2(CACNB2):c.-184T>A http://identifiers.org/clinvar/299553 ^@ NM_201590.2(CACNB2):c.198G>A (p.Arg66=) http://identifiers.org/clinvar/359087 ^@ NM_018238.3(AGK):c.*1331_*1334delTTTT http://identifiers.org/clinvar/363785 ^@ NM_000318.2(PEX2):c.*1854A>C http://identifiers.org/clinvar/359027 ^@ NM_020632.2(ATP6V0A4):c.735T>C (p.Thr245=) http://identifiers.org/clinvar/363786 ^@ NM_000318.2(PEX2):c.*1842G>C http://identifiers.org/clinvar/359088 ^@ NM_000083.2(CLCN1):c.-21C>T http://identifiers.org/clinvar/363796 ^@ NM_000318.2(PEX2):c.*1370A>G http://identifiers.org/clinvar/299557 ^@ NM_201590.2(CACNB2):c.643-4G>A http://identifiers.org/clinvar/363803 ^@ NM_000318.2(PEX2):c.*819A>C http://identifiers.org/clinvar/299559 ^@ NM_201590.2(CACNB2):c.893-12C>T http://identifiers.org/clinvar/363809 ^@ NM_000318.2(PEX2):c.*324G>T http://identifiers.org/clinvar/363810 ^@ NM_000318.2(PEX2):c.*277_*279delCCT http://identifiers.org/clinvar/363814 ^@ NM_000318.2(PEX2):c.*40G>A http://identifiers.org/clinvar/363815 ^@ NM_000318.2(PEX2):c.*37C>T http://identifiers.org/clinvar/363817 ^@ NM_000318.2(PEX2):c.152G>T (p.Arg51Leu) http://identifiers.org/clinvar/359091 ^@ NM_000083.2(CLCN1):c.86A>C (p.His29Pro) http://identifiers.org/clinvar/363828 ^@ NM_000067.2(CA2):c.-176C>T http://identifiers.org/clinvar/359031 ^@ NM_020632.2(ATP6V0A4):c.418-13C>G http://identifiers.org/clinvar/359034 ^@ NM_020632.2(ATP6V0A4):c.-29G>A http://identifiers.org/clinvar/363829 ^@ NM_000067.2(CA2):c.-138G>A http://identifiers.org/clinvar/359098 ^@ NM_000083.2(CLCN1):c.434-14A>G http://identifiers.org/clinvar/363837 ^@ NM_000067.2(CA2):c.*17G>A http://identifiers.org/clinvar/363846 ^@ NM_019098.4(CNGB3):c.*1470G>C http://identifiers.org/clinvar/299564 ^@ NM_201590.2(CACNB2):c.1536C>G (p.Ala512=) http://identifiers.org/clinvar/359100 ^@ NM_000083.2(CLCN1):c.451G>A (p.Ala151Thr) http://identifiers.org/clinvar/299565 ^@ NM_201590.2(CACNB2):c.1557T>C (p.Asp519=) http://identifiers.org/clinvar/359038 ^@ NM_020632.2(ATP6V0A4):c.-206G>A http://identifiers.org/clinvar/359039 ^@ NM_020632.2(ATP6V0A4):c.-240C>G http://identifiers.org/clinvar/363857 ^@ NM_019098.4(CNGB3):c.*731C>T http://identifiers.org/clinvar/299574 ^@ NM_201590.2(CACNB2):c.*41_*45dupCTTGT http://identifiers.org/clinvar/359137 ^@ NM_001080413.3(NOBOX):c.1751T>G (p.Met584Arg) http://identifiers.org/clinvar/299575 ^@ NM_201590.2(CACNB2):c.*52_*55dupAACA http://identifiers.org/clinvar/359145 ^@ NM_001080413.3(NOBOX):c.1031G>A (p.Arg344His) http://identifiers.org/clinvar/359146 ^@ NM_001080413.3(NOBOX):c.679C>T (p.Arg227Cys) http://identifiers.org/clinvar/359148 ^@ NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu) http://identifiers.org/clinvar/363859 ^@ NM_019098.4(CNGB3):c.*389A>C http://identifiers.org/clinvar/363863 ^@ NM_019098.4(CNGB3):c.*125G>C http://identifiers.org/clinvar/359041 ^@ NM_004333.4(BRAF):c.*387G>A http://identifiers.org/clinvar/359043 ^@ NM_004333.4(BRAF):c.*3C>T http://identifiers.org/clinvar/363871 ^@ NM_019098.4(CNGB3):c.1534A>G (p.Ile512Val) http://identifiers.org/clinvar/299577 ^@ NM_201590.2(CACNB2):c.*76T>C http://identifiers.org/clinvar/299578 ^@ NM_201590.2(CACNB2):c.*87A>G http://identifiers.org/clinvar/363877 ^@ NM_019098.4(CNGB3):c.773T>C (p.Ile258Thr) http://identifiers.org/clinvar/363878 ^@ NM_019098.4(CNGB3):c.739G>A (p.Ala247Thr) http://identifiers.org/clinvar/359044 ^@ NM_004333.4(BRAF):c.2128-4delG http://identifiers.org/clinvar/299580 ^@ NM_201590.2(CACNB2):c.*186_*189dupAAGT http://identifiers.org/clinvar/299583 ^@ NM_201590.2(CACNB2):c.*432G>A http://identifiers.org/clinvar/363879 ^@ NM_019098.4(CNGB3):c.738C>T (p.Thr246=) http://identifiers.org/clinvar/359081 ^@ NM_018238.3(AGK):c.*1210A>T http://identifiers.org/clinvar/359149 ^@ NM_001080413.3(NOBOX):c.362C>G (p.Pro121Arg) http://identifiers.org/clinvar/359152 ^@ NM_001080413.3(NOBOX):c.262C>T (p.Leu88=) http://identifiers.org/clinvar/359155 ^@ NM_001080413.3(NOBOX):c.131G>T (p.Arg44Leu) http://identifiers.org/clinvar/299585 ^@ NM_201590.2(CACNB2):c.*516_*519dupTTAG http://identifiers.org/clinvar/299590 ^@ NM_201590.2(CACNB2):c.*607_*608insAT http://identifiers.org/clinvar/299596 ^@ NM_201590.2(CACNB2):c.*620A>G http://identifiers.org/clinvar/299603 ^@ NM_201590.2(CACNB2):c.*839_*842dupAAGT http://identifiers.org/clinvar/359084 ^@ NM_018238.3(AGK):c.*1301C>T http://identifiers.org/clinvar/359089 ^@ NM_000083.2(CLCN1):c.26G>A (p.Arg9His) http://identifiers.org/clinvar/359092 ^@ NM_000083.2(CLCN1):c.156C>T (p.Pro52=) http://identifiers.org/clinvar/363887 ^@ NM_019098.4(CNGB3):c.212-6delT http://identifiers.org/clinvar/363896 ^@ NM_002485.4(NBN):c.*1754T>C http://identifiers.org/clinvar/363897 ^@ NM_002485.4(NBN):c.*1692A>G http://identifiers.org/clinvar/359158 ^@ NM_001080413.3(NOBOX):c.85+10T>C http://identifiers.org/clinvar/363898 ^@ NM_002485.4(NBN):c.*1209A>C http://identifiers.org/clinvar/299604 ^@ NM_201590.2(CACNB2):c.*865T>C http://identifiers.org/clinvar/299611 ^@ NM_201590.2(CACNB2):c.*1330_*1333dupGTTT http://identifiers.org/clinvar/363900 ^@ NM_002485.4(NBN):c.*987T>G http://identifiers.org/clinvar/363917 ^@ NM_153704.5(TMEM67):c.77T>C (p.Leu26Pro) http://identifiers.org/clinvar/363931 ^@ NM_153704.5(TMEM67):c.*218T>C http://identifiers.org/clinvar/363933 ^@ NM_153704.5(TMEM67):c.*852C>T http://identifiers.org/clinvar/363937 ^@ NM_153704.5(TMEM67):c.*1434T>C http://identifiers.org/clinvar/363949 ^@ NM_018444.3(PDP1):c.*491T>G http://identifiers.org/clinvar/299612 ^@ NM_201590.2(CACNB2):c.*1565A>G http://identifiers.org/clinvar/363953 ^@ NM_018444.3(PDP1):c.*724delT http://identifiers.org/clinvar/299619 ^@ NM_201590.2(CACNB2):c.*2007G>A http://identifiers.org/clinvar/363956 ^@ NM_018444.3(PDP1):c.*901_*903delCTT http://identifiers.org/clinvar/363960 ^@ NM_018444.3(PDP1):c.*1324G>A http://identifiers.org/clinvar/359169 ^@ NM_014141.5(CNTNAP2):c.-145G>C http://identifiers.org/clinvar/359173 ^@ NM_014141.5(CNTNAP2):c.-18C>G http://identifiers.org/clinvar/359175 ^@ NM_014141.5(CNTNAP2):c.87C>T (p.Pro29=) http://identifiers.org/clinvar/359178 ^@ NM_014141.5(CNTNAP2):c.637G>A (p.Ala213Thr) http://identifiers.org/clinvar/299623 ^@ NM_178161.2(PTF1A):c.263G>A (p.Gly88Asp) http://identifiers.org/clinvar/359180 ^@ NM_014141.5(CNTNAP2):c.823C>T (p.His275Tyr) http://identifiers.org/clinvar/363961 ^@ NM_018444.3(PDP1):c.*1370A>G http://identifiers.org/clinvar/359095 ^@ NM_000083.2(CLCN1):c.314G>A (p.Arg105His) http://identifiers.org/clinvar/359101 ^@ NM_000083.2(CLCN1):c.461A>G (p.Gln154Arg) http://identifiers.org/clinvar/363963 ^@ NM_018444.3(PDP1):c.*1487A>T http://identifiers.org/clinvar/359185 ^@ NM_014141.5(CNTNAP2):c.2122G>T (p.Val708Phe) http://identifiers.org/clinvar/363968 ^@ NM_018444.3(PDP1):c.*1649_*1650insG http://identifiers.org/clinvar/299630 ^@ NM_178161.2(PTF1A):c.*126_*129delCTAT http://identifiers.org/clinvar/299633 ^@ NM_178161.2(PTF1A):c.*265A>G http://identifiers.org/clinvar/359113 ^@ NM_000083.2(CLCN1):c.1797-9C>T http://identifiers.org/clinvar/359114 ^@ NM_000083.2(CLCN1):c.1842G>C (p.Lys614Asn) http://identifiers.org/clinvar/359117 ^@ NM_000083.2(CLCN1):c.2136T>C (p.Asp712=) http://identifiers.org/clinvar/363969 ^@ NM_018444.3(PDP1):c.*1651T>G http://identifiers.org/clinvar/363970 ^@ NM_018444.3(PDP1):c.*1664G>A http://identifiers.org/clinvar/299642 ^@ NM_017433.4(MYO3A):c.-37A>G http://identifiers.org/clinvar/299647 ^@ NM_017433.4(MYO3A):c.706A>G (p.Met236Val) http://identifiers.org/clinvar/363977 ^@ NM_018444.3(PDP1):c.*2133G>A http://identifiers.org/clinvar/299654 ^@ NM_017433.4(MYO3A):c.1286_1288delTTT (p.Ile429_Ser430delinsThr) http://identifiers.org/clinvar/359193 ^@ NM_014141.5(CNTNAP2):c.3182C>T (p.Pro1061Leu) http://identifiers.org/clinvar/359196 ^@ NM_014141.5(CNTNAP2):c.3797-5G>A http://identifiers.org/clinvar/359202 ^@ NM_014141.5(CNTNAP2):c.*279C>A http://identifiers.org/clinvar/299655 ^@ NM_017433.4(MYO3A):c.1562T>C (p.Ile521Thr) http://identifiers.org/clinvar/359118 ^@ NM_000083.2(CLCN1):c.2154C>T (p.Asp718=) http://identifiers.org/clinvar/363978 ^@ NM_018444.3(PDP1):c.*2299A>G http://identifiers.org/clinvar/299659 ^@ NM_017433.4(MYO3A):c.1792T>C (p.Tyr598His) http://identifiers.org/clinvar/359209 ^@ NM_014141.5(CNTNAP2):c.*923delG http://identifiers.org/clinvar/359210 ^@ NM_014141.5(CNTNAP2):c.*925T>G http://identifiers.org/clinvar/359122 ^@ NM_000083.2(CLCN1):c.2244G>A (p.Leu748=) http://identifiers.org/clinvar/359123 ^@ NM_000083.2(CLCN1):c.2364+10G>A http://identifiers.org/clinvar/359126 ^@ NM_000083.2(CLCN1):c.2713G>A (p.Glu905Lys) http://identifiers.org/clinvar/359212 ^@ NM_014141.5(CNTNAP2):c.*1027C>G http://identifiers.org/clinvar/359129 ^@ NM_000083.2(CLCN1):c.*29C>A http://identifiers.org/clinvar/359130 ^@ NM_000083.2(CLCN1):c.*29C>T http://identifiers.org/clinvar/359131 ^@ NM_001080413.3(NOBOX):c.1991A>G (p.Lys664Arg) http://identifiers.org/clinvar/363981 ^@ NM_177965.3(C8orf37):c.*2525T>C http://identifiers.org/clinvar/299662 ^@ NM_017433.4(MYO3A):c.2115-7C>A http://identifiers.org/clinvar/363982 ^@ NM_177965.3(C8orf37):c.*2419T>A http://identifiers.org/clinvar/363985 ^@ NM_177965.3(C8orf37):c.*2102G>A http://identifiers.org/clinvar/299675 ^@ NM_017433.4(MYO3A):c.3880A>G (p.Ile1294Val) http://identifiers.org/clinvar/299677 ^@ NM_017433.4(MYO3A):c.4407T>C (p.Asn1469=) http://identifiers.org/clinvar/363988 ^@ NM_177965.3(C8orf37):c.*1870T>A http://identifiers.org/clinvar/359138 ^@ NM_001080413.3(NOBOX):c.1709C>T (p.Ser570Leu) http://identifiers.org/clinvar/359147 ^@ NM_001080413.3(NOBOX):c.454G>A (p.Gly152Arg) http://identifiers.org/clinvar/359150 ^@ NM_001080413.3(NOBOX):c.293-15G>A http://identifiers.org/clinvar/363990 ^@ NM_177965.3(C8orf37):c.*1675G>T http://identifiers.org/clinvar/299684 ^@ NM_017433.4(MYO3A):c.*270A>G http://identifiers.org/clinvar/299689 ^@ NM_017433.4(MYO3A):c.*435G>T http://identifiers.org/clinvar/363992 ^@ NM_177965.3(C8orf37):c.*1623_*1624dupAA http://identifiers.org/clinvar/299690 ^@ NM_017433.4(MYO3A):c.*493G>A http://identifiers.org/clinvar/359213 ^@ NM_014141.5(CNTNAP2):c.*1059A>T http://identifiers.org/clinvar/359217 ^@ NM_014141.5(CNTNAP2):c.*1276_*1280dupGTTTA http://identifiers.org/clinvar/299692 ^@ NM_014317.4(PDSS1):c.83G>T (p.Arg28Leu) http://identifiers.org/clinvar/359221 ^@ NM_014141.5(CNTNAP2):c.*1486T>C http://identifiers.org/clinvar/299702 ^@ NM_014317.4(PDSS1):c.*40T>C http://identifiers.org/clinvar/359151 ^@ NM_001080413.3(NOBOX):c.265G>C (p.Val89Leu) http://identifiers.org/clinvar/359154 ^@ NM_001080413.3(NOBOX):c.138C>T (p.Tyr46=) http://identifiers.org/clinvar/359157 ^@ NM_001080413.3(NOBOX):c.86-8C>T http://identifiers.org/clinvar/299708 ^@ NM_014317.4(PDSS1):c.*264A>T http://identifiers.org/clinvar/299713 ^@ NM_014915.2(ANKRD26):c.*1174C>G http://identifiers.org/clinvar/359160 ^@ NM_014141.5(CNTNAP2):c.-454G>T http://identifiers.org/clinvar/359164 ^@ NM_014141.5(CNTNAP2):c.-331delT http://identifiers.org/clinvar/359167 ^@ NM_014141.5(CNTNAP2):c.-168C>G http://identifiers.org/clinvar/299719 ^@ NM_014915.2(ANKRD26):c.*704C>G http://identifiers.org/clinvar/359222 ^@ NM_014141.5(CNTNAP2):c.*1557A>C http://identifiers.org/clinvar/299725 ^@ NM_014915.2(ANKRD26):c.*8G>T http://identifiers.org/clinvar/359225 ^@ NM_014141.5(CNTNAP2):c.*1657G>A http://identifiers.org/clinvar/359226 ^@ NM_014141.5(CNTNAP2):c.*1762T>C http://identifiers.org/clinvar/359227 ^@ NM_014141.5(CNTNAP2):c.*1858G>A http://identifiers.org/clinvar/359229 ^@ NM_014141.5(CNTNAP2):c.*2151A>G http://identifiers.org/clinvar/363996 ^@ NM_177965.3(C8orf37):c.*408G>A http://identifiers.org/clinvar/364002 ^@ NM_177965.3(C8orf37):c.55C>G (p.Pro19Ala) http://identifiers.org/clinvar/359246 ^@ NM_014141.5(CNTNAP2):c.*3419delA http://identifiers.org/clinvar/359248 ^@ NM_014141.5(CNTNAP2):c.*3531G>A http://identifiers.org/clinvar/299727 ^@ NM_014915.2(ANKRD26):c.4808C>G (p.Thr1603Ser) http://identifiers.org/clinvar/299732 ^@ NM_014915.2(ANKRD26):c.3940G>A (p.Glu1314Lys) http://identifiers.org/clinvar/359249 ^@ NM_014141.5(CNTNAP2):c.*3540G>A http://identifiers.org/clinvar/359250 ^@ NM_014141.5(CNTNAP2):c.*3593C>A http://identifiers.org/clinvar/364004 ^@ NM_177965.3(C8orf37):c.-22G>A http://identifiers.org/clinvar/359258 ^@ NM_014141.5(CNTNAP2):c.*3913A>G http://identifiers.org/clinvar/364010 ^@ NM_001001557.3(GDF6):c.*2001A>G http://identifiers.org/clinvar/359168 ^@ NM_014141.5(CNTNAP2):c.-146G>A http://identifiers.org/clinvar/359176 ^@ NM_014141.5(CNTNAP2):c.209-11C>T http://identifiers.org/clinvar/359177 ^@ NM_014141.5(CNTNAP2):c.550+10G>A http://identifiers.org/clinvar/359181 ^@ NM_014141.5(CNTNAP2):c.910G>C (p.Glu304Gln) http://identifiers.org/clinvar/364012 ^@ NM_001001557.3(GDF6):c.*1429_*1430delAG http://identifiers.org/clinvar/299735 ^@ NM_014915.2(ANKRD26):c.3367A>G (p.Asn1123Asp) http://identifiers.org/clinvar/299739 ^@ NM_014915.2(ANKRD26):c.2559+10T>A http://identifiers.org/clinvar/364013 ^@ NM_001001557.3(GDF6):c.*1090G>C http://identifiers.org/clinvar/299740 ^@ NM_014915.2(ANKRD26):c.2071T>C (p.Ser691Pro) http://identifiers.org/clinvar/299742 ^@ NM_014915.2(ANKRD26):c.1986-3delT http://identifiers.org/clinvar/299747 ^@ NM_014915.2(ANKRD26):c.1439T>C (p.Val480Ala) http://identifiers.org/clinvar/359186 ^@ NM_014141.5(CNTNAP2):c.2241G>A (p.Ala747=) http://identifiers.org/clinvar/359261 ^@ NM_014141.5(CNTNAP2):c.*3999dupT http://identifiers.org/clinvar/299752 ^@ NM_014915.2(ANKRD26):c.1153A>G (p.Thr385Ala) http://identifiers.org/clinvar/299759 ^@ NM_014915.2(ANKRD26):c.531+10A>T http://identifiers.org/clinvar/364014 ^@ NM_001001557.3(GDF6):c.*1084C>A http://identifiers.org/clinvar/359187 ^@ NM_014141.5(CNTNAP2):c.2255+12C>T http://identifiers.org/clinvar/359188 ^@ NM_014141.5(CNTNAP2):c.2422T>C (p.Ser808Pro) http://identifiers.org/clinvar/364017 ^@ NM_001001557.3(GDF6):c.*842T>C http://identifiers.org/clinvar/299762 ^@ NM_014915.2(ANKRD26):c.269A>G (p.Asn90Ser) http://identifiers.org/clinvar/364018 ^@ NM_001001557.3(GDF6):c.*781G>A http://identifiers.org/clinvar/364026 ^@ NM_001001557.3(GDF6):c.*320_*321insCTTT http://identifiers.org/clinvar/299763 ^@ NM_014915.2(ANKRD26):c.162C>T (p.Ala54=) http://identifiers.org/clinvar/299765 ^@ NM_014915.2(ANKRD26):c.93G>A (p.Gly31=) http://identifiers.org/clinvar/359267 ^@ NM_014141.5(CNTNAP2):c.*4276C>T http://identifiers.org/clinvar/364030 ^@ NM_001001557.3(GDF6):c.*272_*278delTCTCTCT http://identifiers.org/clinvar/364041 ^@ NM_001001557.3(GDF6):c.*28G>A http://identifiers.org/clinvar/364045 ^@ NM_001001557.3(GDF6):c.870C>T (p.Phe290=) http://identifiers.org/clinvar/359276 ^@ NM_014141.5(CNTNAP2):c.*5268G>T http://identifiers.org/clinvar/364046 ^@ NM_001001557.3(GDF6):c.852C>G (p.Ser284=) http://identifiers.org/clinvar/359279 ^@ NM_004456.4(EZH2):c.1555T>C (p.Ser519Pro) http://identifiers.org/clinvar/299769 ^@ NM_014915.2(ANKRD26):c.-135A>C http://identifiers.org/clinvar/299772 ^@ NM_032844.4(MASTL):c.-601T>A http://identifiers.org/clinvar/359283 ^@ NM_004456.4(EZH2):c.657T>C (p.Pro219=) http://identifiers.org/clinvar/359285 ^@ NM_004456.4(EZH2):c.484+13C>T http://identifiers.org/clinvar/299773 ^@ NM_032844.4(MASTL):c.-568G>A http://identifiers.org/clinvar/359288 ^@ NM_004456.4(EZH2):c.118-5_118-4delTT http://identifiers.org/clinvar/299778 ^@ NM_032844.4(MASTL):c.-240G>A http://identifiers.org/clinvar/299783 ^@ NM_032844.4(MASTL):c.-112dupG http://identifiers.org/clinvar/359190 ^@ NM_014141.5(CNTNAP2):c.2554+14G>T http://identifiers.org/clinvar/364048 ^@ NM_001001557.3(GDF6):c.742C>A (p.Arg248Ser) http://identifiers.org/clinvar/359290 ^@ NM_004456.4(EZH2):c.-26G>A http://identifiers.org/clinvar/299786 ^@ NM_032844.4(MASTL):c.324+4A>C http://identifiers.org/clinvar/359293 ^@ NM_004456.4(EZH2):c.-138C>T http://identifiers.org/clinvar/299789 ^@ NM_032844.4(MASTL):c.744A>G (p.Gly248=) http://identifiers.org/clinvar/364051 ^@ NM_001001557.3(GDF6):c.356A>G (p.Gln119Arg) http://identifiers.org/clinvar/359194 ^@ NM_014141.5(CNTNAP2):c.3651G>A (p.Ser1217=) http://identifiers.org/clinvar/361034 ^@ NM_017890.4(VPS13B):c.-30T>A http://identifiers.org/clinvar/359295 ^@ NM_000238.3(KCNH2):c.*397T>C http://identifiers.org/clinvar/359197 ^@ NM_014141.5(CNTNAP2):c.*48G>A http://identifiers.org/clinvar/299790 ^@ NM_032844.4(MASTL):c.985-15T>C http://identifiers.org/clinvar/299795 ^@ NM_032844.4(MASTL):c.1654A>G (p.Ser552Gly) http://identifiers.org/clinvar/359198 ^@ NM_014141.5(CNTNAP2):c.*159G>A http://identifiers.org/clinvar/359201 ^@ NM_014141.5(CNTNAP2):c.*176C>A http://identifiers.org/clinvar/359208 ^@ NM_014141.5(CNTNAP2):c.*921_*925delTAGTT http://identifiers.org/clinvar/359211 ^@ NM_014141.5(CNTNAP2):c.*1017T>G http://identifiers.org/clinvar/359215 ^@ NM_014141.5(CNTNAP2):c.*1187G>A http://identifiers.org/clinvar/299797 ^@ NM_032844.4(MASTL):c.2124+14T>C http://identifiers.org/clinvar/359220 ^@ NM_014141.5(CNTNAP2):c.*1482A>T http://identifiers.org/clinvar/299798 ^@ NM_032844.4(MASTL):c.2242C>T (p.Leu748=) http://identifiers.org/clinvar/299801 ^@ NM_032844.4(MASTL):c.2514C>T (p.Asp838=) http://identifiers.org/clinvar/359297 ^@ NM_000238.3(KCNH2):c.*228G>A http://identifiers.org/clinvar/299803 ^@ NM_032844.4(MASTL):c.*114A>G http://identifiers.org/clinvar/359305 ^@ NM_000238.3(KCNH2):c.3152+12C>A http://identifiers.org/clinvar/359307 ^@ NM_000238.3(KCNH2):c.2890C>G (p.Pro964Ala) http://identifiers.org/clinvar/359228 ^@ NM_014141.5(CNTNAP2):c.*2013A>G http://identifiers.org/clinvar/299806 ^@ NM_032844.4(MASTL):c.*228T>C http://identifiers.org/clinvar/359230 ^@ NM_014141.5(CNTNAP2):c.*2156C>T http://identifiers.org/clinvar/359315 ^@ NM_000238.3(KCNH2):c.853G>T (p.Ala285Ser) http://identifiers.org/clinvar/359231 ^@ NM_014141.5(CNTNAP2):c.*2157A>G http://identifiers.org/clinvar/359316 ^@ NM_000238.3(KCNH2):c.675C>G (p.Leu225=) http://identifiers.org/clinvar/361038 ^@ NM_017890.4(VPS13B):c.584C>G (p.Thr195Ser) http://identifiers.org/clinvar/359318 ^@ NM_000238.3(KCNH2):c.-207C>T http://identifiers.org/clinvar/359232 ^@ NM_014141.5(CNTNAP2):c.*2309G>T http://identifiers.org/clinvar/359233 ^@ NM_014141.5(CNTNAP2):c.*2315C>T http://identifiers.org/clinvar/359235 ^@ NM_014141.5(CNTNAP2):c.*2665C>T http://identifiers.org/clinvar/359244 ^@ NM_014141.5(CNTNAP2):c.*3328G>A http://identifiers.org/clinvar/361041 ^@ NM_017890.4(VPS13B):c.1289G>C (p.Gly430Ala) http://identifiers.org/clinvar/359329 ^@ NM_016203.3(PRKAG2):c.*896delT http://identifiers.org/clinvar/299807 ^@ NM_032844.4(MASTL):c.*252T>C http://identifiers.org/clinvar/299828 ^@ NM_021252.4(RAB18):c.*382C>T http://identifiers.org/clinvar/299829 ^@ NM_021252.4(RAB18):c.*387C>A http://identifiers.org/clinvar/299836 ^@ NM_021252.4(RAB18):c.*764A>G http://identifiers.org/clinvar/361044 ^@ NM_017890.4(VPS13B):c.1954A>C (p.Ile652Leu) http://identifiers.org/clinvar/361045 ^@ NM_017890.4(VPS13B):c.2583C>T (p.Cys861=) http://identifiers.org/clinvar/361048 ^@ NM_017890.4(VPS13B):c.2752T>C (p.Ser918Pro) http://identifiers.org/clinvar/361049 ^@ NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) http://identifiers.org/clinvar/361051 ^@ NM_017890.4(VPS13B):c.2830G>T (p.Val944Leu) http://identifiers.org/clinvar/359251 ^@ NM_014141.5(CNTNAP2):c.*3616C>T http://identifiers.org/clinvar/361053 ^@ NM_017890.4(VPS13B):c.3083-9C>T http://identifiers.org/clinvar/359334 ^@ NM_016203.3(PRKAG2):c.*572G>A http://identifiers.org/clinvar/299837 ^@ NM_021252.4(RAB18):c.*890G>A http://identifiers.org/clinvar/361054 ^@ NM_017890.4(VPS13B):c.3211-11T>C http://identifiers.org/clinvar/299838 ^@ NM_021252.4(RAB18):c.*956A>C http://identifiers.org/clinvar/361056 ^@ NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) http://identifiers.org/clinvar/299839 ^@ NM_021252.4(RAB18):c.*992C>A http://identifiers.org/clinvar/359336 ^@ NM_016203.3(PRKAG2):c.*452C>T http://identifiers.org/clinvar/359338 ^@ NM_016203.3(PRKAG2):c.*365G>A http://identifiers.org/clinvar/359345 ^@ NM_016203.3(PRKAG2):c.433G>A (p.Gly145Arg) http://identifiers.org/clinvar/359361 ^@ NM_016203.3(PRKAG2):c.-351G>A http://identifiers.org/clinvar/299841 ^@ NM_021252.4(RAB18):c.*1136G>A http://identifiers.org/clinvar/299842 ^@ NM_021252.4(RAB18):c.*1141T>C http://identifiers.org/clinvar/299846 ^@ NM_021252.4(RAB18):c.*1542T>C http://identifiers.org/clinvar/359362 ^@ NM_016203.3(PRKAG2):c.-397G>C http://identifiers.org/clinvar/359364 ^@ NM_016203.3(PRKAG2):c.-520C>T http://identifiers.org/clinvar/359369 ^@ NM_022458.3(LMBR1):c.*2992dupT http://identifiers.org/clinvar/359254 ^@ NM_014141.5(CNTNAP2):c.*3744C>A http://identifiers.org/clinvar/359371 ^@ NM_022458.3(LMBR1):c.*2905T>A http://identifiers.org/clinvar/299848 ^@ NM_021252.4(RAB18):c.*1696T>A http://identifiers.org/clinvar/299849 ^@ NM_021252.4(RAB18):c.*1845G>T http://identifiers.org/clinvar/359372 ^@ NM_022458.3(LMBR1):c.*2899A>T http://identifiers.org/clinvar/359377 ^@ NM_022458.3(LMBR1):c.*2744G>T http://identifiers.org/clinvar/361058 ^@ NM_017890.4(VPS13B):c.3667-5C>G http://identifiers.org/clinvar/299850 ^@ NM_021252.4(RAB18):c.*1895G>C http://identifiers.org/clinvar/361062 ^@ NM_017890.4(VPS13B):c.4762A>G (p.Met1588Val) http://identifiers.org/clinvar/299853 ^@ NM_021252.4(RAB18):c.*2242A>G http://identifiers.org/clinvar/299855 ^@ NM_021252.4(RAB18):c.*2420C>A http://identifiers.org/clinvar/359379 ^@ NM_022458.3(LMBR1):c.*2603A>G http://identifiers.org/clinvar/299860 ^@ NM_021252.4(RAB18):c.*2788C>T http://identifiers.org/clinvar/299864 ^@ NM_021252.4(RAB18):c.*3046_*3047dupGG http://identifiers.org/clinvar/359269 ^@ NM_014141.5(CNTNAP2):c.*4738C>G http://identifiers.org/clinvar/299865 ^@ NM_021252.4(RAB18):c.*3129C>T http://identifiers.org/clinvar/361063 ^@ NM_017890.4(VPS13B):c.4821-7T>C http://identifiers.org/clinvar/299866 ^@ NM_021252.4(RAB18):c.*3166C>T http://identifiers.org/clinvar/299871 ^@ NM_021252.4(RAB18):c.*3476A>G http://identifiers.org/clinvar/359380 ^@ NM_022458.3(LMBR1):c.*2596A>G http://identifiers.org/clinvar/359272 ^@ NM_014141.5(CNTNAP2):c.*4839G>A http://identifiers.org/clinvar/361069 ^@ NM_017890.4(VPS13B):c.5890T>G (p.Leu1964Val) http://identifiers.org/clinvar/361070 ^@ NM_017890.4(VPS13B):c.5983+14A>C http://identifiers.org/clinvar/361075 ^@ NM_017890.4(VPS13B):c.8356G>T (p.Val2786Leu) http://identifiers.org/clinvar/359274 ^@ NM_014141.5(CNTNAP2):c.*5148G>A http://identifiers.org/clinvar/361076 ^@ NM_017890.4(VPS13B):c.8436+12C>T http://identifiers.org/clinvar/299881 ^@ NM_021252.4(RAB18):c.*3939A>T http://identifiers.org/clinvar/361077 ^@ NM_017890.4(VPS13B):c.8868-7G>A http://identifiers.org/clinvar/359275 ^@ NM_014141.5(CNTNAP2):c.*5233C>T http://identifiers.org/clinvar/359281 ^@ NM_004456.4(EZH2):c.1383G>C (p.Arg461Ser) http://identifiers.org/clinvar/361079 ^@ NM_017890.4(VPS13B):c.9342T>C (p.Asn3114=) http://identifiers.org/clinvar/299882 ^@ NM_021252.4(RAB18):c.*4039A>C http://identifiers.org/clinvar/299885 ^@ NM_020975.4(RET):c.-132G>T http://identifiers.org/clinvar/299890 ^@ NM_020975.4(RET):c.1109T>A (p.Met370Lys) http://identifiers.org/clinvar/359391 ^@ NM_022458.3(LMBR1):c.*1971A>T http://identifiers.org/clinvar/359394 ^@ NM_022458.3(LMBR1):c.*1862T>A http://identifiers.org/clinvar/359398 ^@ NM_022458.3(LMBR1):c.*1470G>A http://identifiers.org/clinvar/359403 ^@ NM_022458.3(LMBR1):c.*1338dupT http://identifiers.org/clinvar/359282 ^@ NM_004456.4(EZH2):c.1281A>G (p.Pro427=) http://identifiers.org/clinvar/299893 ^@ NM_020975.4(RET):c.1523-7C>T http://identifiers.org/clinvar/359284 ^@ NM_004456.4(EZH2):c.625+12T>G http://identifiers.org/clinvar/361082 ^@ NM_017890.4(VPS13B):c.9658G>A (p.Gly3220Arg) http://identifiers.org/clinvar/361083 ^@ NM_017890.4(VPS13B):c.9678A>G (p.Gly3226=) http://identifiers.org/clinvar/359404 ^@ NM_022458.3(LMBR1):c.*1325C>T http://identifiers.org/clinvar/361085 ^@ NM_017890.4(VPS13B):c.9906G>A (p.Pro3302=) http://identifiers.org/clinvar/359407 ^@ NM_022458.3(LMBR1):c.*685G>A http://identifiers.org/clinvar/359409 ^@ NM_022458.3(LMBR1):c.*457C>G http://identifiers.org/clinvar/359421 ^@ NM_022458.3(LMBR1):c.1399C>G (p.Leu467Val) http://identifiers.org/clinvar/361087 ^@ NM_017890.4(VPS13B):c.10086C>G (p.Ile3362Met) http://identifiers.org/clinvar/361089 ^@ NM_017890.4(VPS13B):c.10459C>T (p.Leu3487Phe) http://identifiers.org/clinvar/359287 ^@ NM_004456.4(EZH2):c.234C>T (p.Arg78=) http://identifiers.org/clinvar/359291 ^@ NM_004456.4(EZH2):c.-32A>C http://identifiers.org/clinvar/361090 ^@ NM_017890.4(VPS13B):c.10501T>C (p.Cys3501Arg) http://identifiers.org/clinvar/359423 ^@ NM_022458.3(LMBR1):c.1095C>T (p.Gly365=) http://identifiers.org/clinvar/361097 ^@ NM_017890.4(VPS13B):c.11972A>T (p.Lys3991Ile) http://identifiers.org/clinvar/299900 ^@ NM_020975.4(RET):c.2847A>G (p.Gly949=) http://identifiers.org/clinvar/299902 ^@ NM_020975.4(RET):c.*84G>A http://identifiers.org/clinvar/361103 ^@ NM_017890.4(VPS13B):c.*305G>A http://identifiers.org/clinvar/359424 ^@ NM_022458.3(LMBR1):c.1092C>T (p.Val364=) http://identifiers.org/clinvar/361107 ^@ NM_017890.4(VPS13B):c.*597_*598dupTT http://identifiers.org/clinvar/359294 ^@ NM_004456.4(EZH2):c.-168dupG http://identifiers.org/clinvar/361109 ^@ NM_017890.4(VPS13B):c.*702dupT http://identifiers.org/clinvar/359298 ^@ NM_000238.3(KCNH2):c.*195C>A http://identifiers.org/clinvar/359299 ^@ NM_000238.3(KCNH2):c.*112C>T http://identifiers.org/clinvar/299906 ^@ NM_020975.4(RET):c.*358G>T http://identifiers.org/clinvar/359302 ^@ NM_000238.3(KCNH2):c.3416C>T (p.Pro1139Leu) http://identifiers.org/clinvar/299912 ^@ NM_020975.4(RET):c.*506G>T http://identifiers.org/clinvar/361108 ^@ NM_017890.4(VPS13B):c.*703_*705delGAT http://identifiers.org/clinvar/359313 ^@ NM_000238.3(KCNH2):c.897A>G (p.Pro299=) http://identifiers.org/clinvar/361113 ^@ NM_017890.4(VPS13B):c.*743T>G http://identifiers.org/clinvar/359429 ^@ NM_022458.3(LMBR1):c.529G>A (p.Ala177Thr) http://identifiers.org/clinvar/299915 ^@ NM_020975.4(RET):c.*553G>T http://identifiers.org/clinvar/299916 ^@ NM_020975.4(RET):c.*576G>A http://identifiers.org/clinvar/361121 ^@ NM_017890.4(VPS13B):c.*1504_*1507dupCTTT http://identifiers.org/clinvar/364220 ^@ NM_014425.4(INVS):c.-110T>G http://identifiers.org/clinvar/364223 ^@ NM_014425.4(INVS):c.796+4C>T http://identifiers.org/clinvar/359432 ^@ NM_022458.3(LMBR1):c.435C>T (p.Ala145=) http://identifiers.org/clinvar/364225 ^@ NM_014425.4(INVS):c.907-13dupA http://identifiers.org/clinvar/299920 ^@ NM_020975.4(RET):c.*824G>T http://identifiers.org/clinvar/364227 ^@ NM_014425.4(INVS):c.1902_1904delCAG (p.Ser634del) http://identifiers.org/clinvar/359314 ^@ NM_000238.3(KCNH2):c.868G>T (p.Ala290Ser) http://identifiers.org/clinvar/364229 ^@ NM_014425.4(INVS):c.2001C>T (p.Gly667=) http://identifiers.org/clinvar/364235 ^@ NM_014425.4(INVS):c.3056C>G (p.Ser1019Cys) http://identifiers.org/clinvar/364247 ^@ NM_001701.3(BAAT):c.*1890C>A http://identifiers.org/clinvar/359319 ^@ NM_000238.3(KCNH2):c.-272C>T http://identifiers.org/clinvar/359326 ^@ NM_016203.3(PRKAG2):c.*1021delT http://identifiers.org/clinvar/359327 ^@ NM_016203.3(PRKAG2):c.*1012T>G http://identifiers.org/clinvar/299921 ^@ NM_020975.4(RET):c.*935C>A http://identifiers.org/clinvar/359331 ^@ NM_016203.3(PRKAG2):c.*835T>C http://identifiers.org/clinvar/364248 ^@ NM_001701.3(BAAT):c.*1886T>C http://identifiers.org/clinvar/359337 ^@ NM_016203.3(PRKAG2):c.*384C>T http://identifiers.org/clinvar/359349 ^@ NM_016203.3(PRKAG2):c.224G>C (p.Gly75Ala) http://identifiers.org/clinvar/359352 ^@ NM_016203.3(PRKAG2):c.-16A>G http://identifiers.org/clinvar/299924 ^@ NM_020975.4(RET):c.*1109T>C http://identifiers.org/clinvar/364249 ^@ NM_001701.3(BAAT):c.*1884G>A http://identifiers.org/clinvar/364250 ^@ NM_001701.3(BAAT):c.*1824C>T http://identifiers.org/clinvar/299926 ^@ NM_020975.4(RET):c.*1130A>G http://identifiers.org/clinvar/299941 ^@ NM_020975.4(RET):c.*1659T>C http://identifiers.org/clinvar/359438 ^@ NM_022458.3(LMBR1):c.61T>A (p.Ser21Thr) http://identifiers.org/clinvar/359444 ^@ NM_022458.3(LMBR1):c.-180_-178delGCT http://identifiers.org/clinvar/299942 ^@ NM_020975.4(RET):c.*1742G>A http://identifiers.org/clinvar/359448 ^@ NM_058246.3(DNAJB6):c.-86G>A http://identifiers.org/clinvar/359449 ^@ NM_058246.3(DNAJB6):c.-85G>T http://identifiers.org/clinvar/299998 ^@ NM_002900.2(RBP3):c.-13C>T http://identifiers.org/clinvar/299994 ^@ NM_002900.2(RBP3):c.787G>T (p.Ala263Ser) http://identifiers.org/clinvar/359467 ^@ NM_058246.3(DNAJB6):c.*586T>C http://identifiers.org/clinvar/299993 ^@ NM_002900.2(RBP3):c.927C>T (p.Ala309=) http://identifiers.org/clinvar/299991 ^@ NM_002900.2(RBP3):c.1044C>T (p.Pro348=) http://identifiers.org/clinvar/299990 ^@ NM_002900.2(RBP3):c.1083G>C (p.Thr361=) http://identifiers.org/clinvar/359355 ^@ NM_016203.3(PRKAG2):c.-249G>C http://identifiers.org/clinvar/359357 ^@ NM_016203.3(PRKAG2):c.-262C>T http://identifiers.org/clinvar/359469 ^@ NM_058246.3(DNAJB6):c.*606A>G http://identifiers.org/clinvar/299989 ^@ NM_002900.2(RBP3):c.1123G>A (p.Gly375Ser) http://identifiers.org/clinvar/364252 ^@ NM_001701.3(BAAT):c.*1575T>G http://identifiers.org/clinvar/299982 ^@ NM_002900.2(RBP3):c.1399C>T (p.Pro467Ser) http://identifiers.org/clinvar/299978 ^@ NM_002900.2(RBP3):c.1776C>G (p.Thr592=) http://identifiers.org/clinvar/299972 ^@ NM_002900.2(RBP3):c.2012G>A (p.Gly671Asp) http://identifiers.org/clinvar/364262 ^@ NM_001701.3(BAAT):c.*1090A>G http://identifiers.org/clinvar/364264 ^@ NM_001701.3(BAAT):c.*1030T>A http://identifiers.org/clinvar/364267 ^@ NM_001701.3(BAAT):c.*948C>A http://identifiers.org/clinvar/359359 ^@ NM_016203.3(PRKAG2):c.-287C>G http://identifiers.org/clinvar/364269 ^@ NM_001701.3(BAAT):c.*787T>C http://identifiers.org/clinvar/359366 ^@ NM_016203.3(PRKAG2):c.-575C>T http://identifiers.org/clinvar/359373 ^@ NM_022458.3(LMBR1):c.*2820G>A http://identifiers.org/clinvar/364276 ^@ NM_001701.3(BAAT):c.1135G>A (p.Asp379Asn) http://identifiers.org/clinvar/299965 ^@ NM_002900.2(RBP3):c.2416C>T (p.Arg806Cys) http://identifiers.org/clinvar/299960 ^@ NM_002900.2(RBP3):c.2619C>T (p.Ala873=) http://identifiers.org/clinvar/359374 ^@ NM_022458.3(LMBR1):c.*2798C>T http://identifiers.org/clinvar/359375 ^@ NM_022458.3(LMBR1):c.*2773G>T http://identifiers.org/clinvar/359376 ^@ NM_022458.3(LMBR1):c.*2761G>A http://identifiers.org/clinvar/359474 ^@ NM_058246.3(DNAJB6):c.*759C>T http://identifiers.org/clinvar/364278 ^@ NM_001701.3(BAAT):c.780C>T (p.Thr260=) http://identifiers.org/clinvar/359479 ^@ NM_058246.3(DNAJB6):c.*934C>T http://identifiers.org/clinvar/299957 ^@ NM_002900.2(RBP3):c.2899G>A (p.Gly967Ser) http://identifiers.org/clinvar/359483 ^@ NM_001101426.3(ISPD):c.*4092A>G http://identifiers.org/clinvar/359488 ^@ NM_001101426.3(ISPD):c.*3792A>G http://identifiers.org/clinvar/359383 ^@ NM_022458.3(LMBR1):c.*2477G>A http://identifiers.org/clinvar/299948 ^@ NM_002900.2(RBP3):c.*165_*166delAT http://identifiers.org/clinvar/359384 ^@ NM_022458.3(LMBR1):c.*2297C>T http://identifiers.org/clinvar/364290 ^@ NM_000035.3(ALDOB):c.*898T>C http://identifiers.org/clinvar/359385 ^@ NM_022458.3(LMBR1):c.*2198C>G http://identifiers.org/clinvar/359390 ^@ NM_022458.3(LMBR1):c.*2016C>T http://identifiers.org/clinvar/364297 ^@ NM_000035.3(ALDOB):c.*567C>T http://identifiers.org/clinvar/299947 ^@ NM_002900.2(RBP3):c.*180T>C http://identifiers.org/clinvar/364298 ^@ NM_000035.3(ALDOB):c.*552T>A http://identifiers.org/clinvar/359489 ^@ NM_001101426.3(ISPD):c.*3578delT http://identifiers.org/clinvar/359495 ^@ NM_001101426.3(ISPD):c.*3261_*3269delAAAAAAAAAinsG http://identifiers.org/clinvar/300000 ^@ NM_000124.3(ERCC6):c.*2337A>C http://identifiers.org/clinvar/359507 ^@ NM_001101426.3(ISPD):c.*3025C>T http://identifiers.org/clinvar/359393 ^@ NM_022458.3(LMBR1):c.*1905C>G http://identifiers.org/clinvar/359508 ^@ NM_001101426.3(ISPD):c.*2926A>G http://identifiers.org/clinvar/359396 ^@ NM_022458.3(LMBR1):c.*1785dupA http://identifiers.org/clinvar/359399 ^@ NM_022458.3(LMBR1):c.*1469C>T http://identifiers.org/clinvar/359514 ^@ NM_001101426.3(ISPD):c.*2512A>C http://identifiers.org/clinvar/300012 ^@ NM_000124.3(ERCC6):c.*1327G>A http://identifiers.org/clinvar/300013 ^@ NM_000124.3(ERCC6):c.*1314G>A http://identifiers.org/clinvar/300022 ^@ NM_000124.3(ERCC6):c.*681G>A http://identifiers.org/clinvar/359521 ^@ NM_001101426.3(ISPD):c.*2380G>A http://identifiers.org/clinvar/359406 ^@ NM_022458.3(LMBR1):c.*722G>C http://identifiers.org/clinvar/359530 ^@ NM_001101426.3(ISPD):c.*2304A>G http://identifiers.org/clinvar/364299 ^@ NM_000035.3(ALDOB):c.*505C>A http://identifiers.org/clinvar/300023 ^@ NM_000124.3(ERCC6):c.*645G>C http://identifiers.org/clinvar/359410 ^@ NM_022458.3(LMBR1):c.*383T>C http://identifiers.org/clinvar/359413 ^@ NM_022458.3(LMBR1):c.*246G>A http://identifiers.org/clinvar/364305 ^@ NM_000035.3(ALDOB):c.*122G>A http://identifiers.org/clinvar/364308 ^@ NM_000035.3(ALDOB):c.956C>T (p.Ala319Val) http://identifiers.org/clinvar/364311 ^@ NM_000035.3(ALDOB):c.543T>G (p.Asn181Lys) http://identifiers.org/clinvar/359415 ^@ NM_022458.3(LMBR1):c.*136dupT http://identifiers.org/clinvar/300027 ^@ NM_000124.3(ERCC6):c.*379C>G http://identifiers.org/clinvar/359418 ^@ NM_022458.3(LMBR1):c.*89A>T http://identifiers.org/clinvar/359428 ^@ NM_022458.3(LMBR1):c.665A>C (p.Gln222Pro) http://identifiers.org/clinvar/359433 ^@ NM_022458.3(LMBR1):c.432A>G (p.Arg144=) http://identifiers.org/clinvar/300028 ^@ NM_000124.3(ERCC6):c.*341A>G http://identifiers.org/clinvar/364312 ^@ NM_000035.3(ALDOB):c.523G>A (p.Ala175Thr) http://identifiers.org/clinvar/300030 ^@ NM_000124.3(ERCC6):c.*118A>C http://identifiers.org/clinvar/364322 ^@ NM_005502.3(ABCA1):c.*3220A>G http://identifiers.org/clinvar/300033 ^@ NM_000124.3(ERCC6):c.4438_4440delTCT (p.Ser1480del) http://identifiers.org/clinvar/300041 ^@ NM_000124.3(ERCC6):c.3922G>C (p.Val1308Leu) http://identifiers.org/clinvar/359434 ^@ NM_022458.3(LMBR1):c.357T>C (p.Cys119=) http://identifiers.org/clinvar/359531 ^@ NM_001101426.3(ISPD):c.*2276T>C http://identifiers.org/clinvar/300044 ^@ NM_000124.3(ERCC6):c.3636C>T (p.Cys1212=) http://identifiers.org/clinvar/364323 ^@ NM_005502.3(ABCA1):c.*3205_*3207delAAA http://identifiers.org/clinvar/364325 ^@ NM_005502.3(ABCA1):c.*3083T>C http://identifiers.org/clinvar/359435 ^@ NM_022458.3(LMBR1):c.350A>G (p.Asn117Ser) http://identifiers.org/clinvar/364333 ^@ NM_005502.3(ABCA1):c.*2446A>C http://identifiers.org/clinvar/300050 ^@ NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) http://identifiers.org/clinvar/364337 ^@ NM_005502.3(ABCA1):c.*2089G>A http://identifiers.org/clinvar/300051 ^@ NM_000124.3(ERCC6):c.3391A>G (p.Asn1131Asp) http://identifiers.org/clinvar/364342 ^@ NM_005502.3(ABCA1):c.*1768T>A http://identifiers.org/clinvar/359550 ^@ NM_001101426.3(ISPD):c.*2119C>A http://identifiers.org/clinvar/364343 ^@ NM_005502.3(ABCA1):c.*1767G>T http://identifiers.org/clinvar/300054 ^@ NM_000124.3(ERCC6):c.2996A>G (p.Asn999Ser) http://identifiers.org/clinvar/359436 ^@ NM_022458.3(LMBR1):c.240C>G (p.Phe80Leu) http://identifiers.org/clinvar/364345 ^@ NM_005502.3(ABCA1):c.*1653T>A http://identifiers.org/clinvar/359437 ^@ NM_022458.3(LMBR1):c.204C>T (p.Leu68=) http://identifiers.org/clinvar/359442 ^@ NM_022458.3(LMBR1):c.-158G>A http://identifiers.org/clinvar/364347 ^@ NM_005502.3(ABCA1):c.*1574T>C http://identifiers.org/clinvar/300057 ^@ NM_000124.3(ERCC6):c.2905G>A (p.Glu969Lys) http://identifiers.org/clinvar/300058 ^@ NM_000124.3(ERCC6):c.2829+11A>T http://identifiers.org/clinvar/359443 ^@ NM_022458.3(LMBR1):c.-176G>A http://identifiers.org/clinvar/300070 ^@ NM_000124.3(ERCC6):c.2287-3T>C http://identifiers.org/clinvar/359445 ^@ NM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCG http://identifiers.org/clinvar/300071 ^@ NM_000124.3(ERCC6):c.2287-4G>A http://identifiers.org/clinvar/359446 ^@ NM_058246.3(DNAJB6):c.-108C>A http://identifiers.org/clinvar/359552 ^@ NM_001101426.3(ISPD):c.*1855G>C http://identifiers.org/clinvar/364350 ^@ NM_005502.3(ABCA1):c.*1466delT http://identifiers.org/clinvar/364351 ^@ NM_005502.3(ABCA1):c.*1440C>T http://identifiers.org/clinvar/364365 ^@ NM_005502.3(ABCA1):c.*486G>A http://identifiers.org/clinvar/359557 ^@ NM_001101426.3(ISPD):c.*1470T>G http://identifiers.org/clinvar/359453 ^@ NM_058246.3(DNAJB6):c.476C>T (p.Thr159Ile) http://identifiers.org/clinvar/300078 ^@ NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) http://identifiers.org/clinvar/364370 ^@ NM_005502.3(ABCA1):c.*321delT http://identifiers.org/clinvar/359563 ^@ NM_001101426.3(ISPD):c.*1099C>T http://identifiers.org/clinvar/300080 ^@ NM_000124.3(ERCC6):c.1435C>T (p.Arg479Cys) http://identifiers.org/clinvar/359572 ^@ NM_001101426.3(ISPD):c.*509A>G http://identifiers.org/clinvar/300082 ^@ NM_000124.3(ERCC6):c.1280T>C (p.Phe427Ser) http://identifiers.org/clinvar/364372 ^@ NM_005502.3(ABCA1):c.*289T>C http://identifiers.org/clinvar/364380 ^@ NM_005502.3(ABCA1):c.6184G>A (p.Gly2062Arg) http://identifiers.org/clinvar/359574 ^@ NM_001101426.3(ISPD):c.*421T>C http://identifiers.org/clinvar/300084 ^@ NM_000124.3(ERCC6):c.1229G>A (p.Gly410Asp) http://identifiers.org/clinvar/300085 ^@ NM_000124.3(ERCC6):c.1159G>A (p.Glu387Lys) http://identifiers.org/clinvar/300094 ^@ NM_000124.3(ERCC6):c.384C>T (p.Asp128=) http://identifiers.org/clinvar/359582 ^@ NM_001101426.3(ISPD):c.*60G>A http://identifiers.org/clinvar/300100 ^@ NM_000124.3(ERCC6):c.-83G>A http://identifiers.org/clinvar/359588 ^@ NM_001101426.3(ISPD):c.628G>A (p.Ala210Thr) http://identifiers.org/clinvar/364387 ^@ NM_005502.3(ABCA1):c.5757+12C>T http://identifiers.org/clinvar/300101 ^@ NM_000124.3(ERCC6):c.-87C>A http://identifiers.org/clinvar/364389 ^@ NM_005502.3(ABCA1):c.5398A>C (p.Asn1800His) http://identifiers.org/clinvar/364391 ^@ NM_005502.3(ABCA1):c.5383-5_5383-3dupTTT http://identifiers.org/clinvar/300104 ^@ NM_000242.2(MBL2):c.*2727G>T http://identifiers.org/clinvar/359454 ^@ NM_058246.3(DNAJB6):c.562T>C (p.Phe188Leu) http://identifiers.org/clinvar/359465 ^@ NM_058246.3(DNAJB6):c.*514G>A http://identifiers.org/clinvar/300108 ^@ NM_000242.2(MBL2):c.*2450A>T http://identifiers.org/clinvar/359466 ^@ NM_058246.3(DNAJB6):c.*528C>T http://identifiers.org/clinvar/364392 ^@ NM_005502.3(ABCA1):c.5376C>T (p.Thr1792=) http://identifiers.org/clinvar/364394 ^@ NM_005502.3(ABCA1):c.5039G>A (p.Arg1680Gln) http://identifiers.org/clinvar/359473 ^@ NM_058246.3(DNAJB6):c.*726A>G http://identifiers.org/clinvar/359594 ^@ NM_001277115.1(DNAH11):c.180C>T (p.Arg60=) http://identifiers.org/clinvar/364395 ^@ NM_005502.3(ABCA1):c.5034G>A (p.Gln1678=) http://identifiers.org/clinvar/300115 ^@ NM_000242.2(MBL2):c.*2033G>A http://identifiers.org/clinvar/364397 ^@ NM_005502.3(ABCA1):c.5019C>T (p.Val1673=) http://identifiers.org/clinvar/300116 ^@ NM_000242.2(MBL2):c.*1995delC http://identifiers.org/clinvar/359475 ^@ NM_058246.3(DNAJB6):c.*776C>T http://identifiers.org/clinvar/359476 ^@ NM_058246.3(DNAJB6):c.*781C>A http://identifiers.org/clinvar/359480 ^@ NM_058246.3(DNAJB6):c.*966C>T http://identifiers.org/clinvar/359486 ^@ NM_001101426.3(ISPD):c.*4010G>A http://identifiers.org/clinvar/359487 ^@ NM_001101426.3(ISPD):c.*3806C>G http://identifiers.org/clinvar/300120 ^@ NM_000242.2(MBL2):c.*1819T>C http://identifiers.org/clinvar/300122 ^@ NM_000242.2(MBL2):c.*1695G>T http://identifiers.org/clinvar/359596 ^@ NM_001277115.1(DNAH11):c.569A>T (p.Tyr190Phe) http://identifiers.org/clinvar/300125 ^@ NM_000242.2(MBL2):c.*1569A>G http://identifiers.org/clinvar/300127 ^@ NM_000242.2(MBL2):c.*1498C>T http://identifiers.org/clinvar/359492 ^@ NM_001101426.3(ISPD):c.*3287G>A http://identifiers.org/clinvar/364406 ^@ NM_005502.3(ABCA1):c.4158A>G (p.Glu1386=) http://identifiers.org/clinvar/364409 ^@ NM_005502.3(ABCA1):c.3945G>A (p.Gly1315=) http://identifiers.org/clinvar/364410 ^@ NM_005502.3(ABCA1):c.3833A>G (p.Lys1278Arg) http://identifiers.org/clinvar/364412 ^@ NM_005502.3(ABCA1):c.3684G>A (p.Arg1228=) http://identifiers.org/clinvar/364413 ^@ NM_005502.3(ABCA1):c.3633A>G (p.Glu1211=) http://identifiers.org/clinvar/359494 ^@ NM_001101426.3(ISPD):c.*3275_*3282delAAAAAAAA http://identifiers.org/clinvar/300141 ^@ NM_000242.2(MBL2):c.*674A>G http://identifiers.org/clinvar/300149 ^@ NM_000242.2(MBL2):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/359500 ^@ NM_001101426.3(ISPD):c.*3187G>T http://identifiers.org/clinvar/359501 ^@ NM_001101426.3(ISPD):c.*3161T>G http://identifiers.org/clinvar/359503 ^@ NM_001101426.3(ISPD):c.*3133G>C http://identifiers.org/clinvar/359505 ^@ NM_001101426.3(ISPD):c.*3091C>G http://identifiers.org/clinvar/300150 ^@ NM_000242.2(MBL2):c.166A>G (p.Lys56Glu) http://identifiers.org/clinvar/359602 ^@ NM_001277115.1(DNAH11):c.982+12G>A http://identifiers.org/clinvar/300152 ^@ NM_000242.2(MBL2):c.-14C>G http://identifiers.org/clinvar/359605 ^@ NM_001277115.1(DNAH11):c.1535T>C (p.Met512Thr) http://identifiers.org/clinvar/359608 ^@ NM_001277115.1(DNAH11):c.2038G>A (p.Asp680Asn) http://identifiers.org/clinvar/359613 ^@ NM_001277115.1(DNAH11):c.2419G>C (p.Asp807His) http://identifiers.org/clinvar/359509 ^@ NM_001101426.3(ISPD):c.*2846G>A http://identifiers.org/clinvar/300155 ^@ NM_033056.3(PCDH15):c.*486G>A http://identifiers.org/clinvar/364417 ^@ NM_005502.3(ABCA1):c.3364C>T (p.Leu1122=) http://identifiers.org/clinvar/359510 ^@ NM_001101426.3(ISPD):c.*2801T>G http://identifiers.org/clinvar/364418 ^@ NM_005502.3(ABCA1):c.3330C>G (p.Cys1110Trp) http://identifiers.org/clinvar/359519 ^@ NM_001101426.3(ISPD):c.*2432G>A http://identifiers.org/clinvar/300172 ^@ NM_033056.3(PCDH15):c.5313T>G (p.Ile1771Met) http://identifiers.org/clinvar/359614 ^@ NM_001277115.1(DNAH11):c.2499C>T (p.Asn833=) http://identifiers.org/clinvar/359615 ^@ NM_001277115.1(DNAH11):c.2504A>G (p.Lys835Arg) http://identifiers.org/clinvar/359616 ^@ NM_001277115.1(DNAH11):c.2547A>G (p.Leu849=) http://identifiers.org/clinvar/300174 ^@ NM_033056.3(PCDH15):c.4993C>A (p.Pro1665Thr) http://identifiers.org/clinvar/359522 ^@ NM_001101426.3(ISPD):c.*2379C>T http://identifiers.org/clinvar/359617 ^@ NM_001277115.1(DNAH11):c.2658C>G (p.Asn886Lys) http://identifiers.org/clinvar/359621 ^@ NM_001277115.1(DNAH11):c.3470T>G (p.Leu1157Arg) http://identifiers.org/clinvar/359626 ^@ NM_001277115.1(DNAH11):c.4713T>C (p.Asp1571=) http://identifiers.org/clinvar/359525 ^@ NM_001101426.3(ISPD):c.*2352G>A http://identifiers.org/clinvar/359629 ^@ NM_001277115.1(DNAH11):c.4891G>A (p.Val1631Ile) http://identifiers.org/clinvar/364421 ^@ NM_005502.3(ABCA1):c.3159T>G (p.Val1053=) http://identifiers.org/clinvar/364425 ^@ NM_005502.3(ABCA1):c.2814G>A (p.Gly938=) http://identifiers.org/clinvar/364432 ^@ NM_005502.3(ABCA1):c.2311G>C (p.Val771Leu) http://identifiers.org/clinvar/364436 ^@ NM_005502.3(ABCA1):c.2143C>A (p.Pro715Thr) http://identifiers.org/clinvar/300180 ^@ NM_033056.3(PCDH15):c.3502-10delC http://identifiers.org/clinvar/300187 ^@ NM_033056.3(PCDH15):c.2709A>G (p.Gly903=) http://identifiers.org/clinvar/359630 ^@ NM_001277115.1(DNAH11):c.4964A>G (p.Lys1655Arg) http://identifiers.org/clinvar/364443 ^@ NM_005502.3(ABCA1):c.1635C>T (p.Ser545=) http://identifiers.org/clinvar/364445 ^@ NM_005502.3(ABCA1):c.1486C>T (p.Arg496Trp) http://identifiers.org/clinvar/364452 ^@ NM_005502.3(ABCA1):c.842T>C (p.Met281Thr) http://identifiers.org/clinvar/300196 ^@ NM_033056.3(PCDH15):c.1220C>T (p.Ser407Phe) http://identifiers.org/clinvar/300198 ^@ NM_033056.3(PCDH15):c.1098+14A>G http://identifiers.org/clinvar/364454 ^@ NM_005502.3(ABCA1):c.787C>G (p.His263Asp) http://identifiers.org/clinvar/300205 ^@ NM_033056.3(PCDH15):c.466G>A (p.Val156Met) http://identifiers.org/clinvar/300206 ^@ NM_033056.3(PCDH15):c.-126G>A http://identifiers.org/clinvar/359633 ^@ NM_001277115.1(DNAH11):c.5241A>G (p.Gln1747=) http://identifiers.org/clinvar/359642 ^@ NM_001277115.1(DNAH11):c.6594G>A (p.Pro2198=) http://identifiers.org/clinvar/364467 ^@ NM_005502.3(ABCA1):c.97C>T (p.Leu33=) http://identifiers.org/clinvar/364473 ^@ NM_005502.3(ABCA1):c.-138G>A http://identifiers.org/clinvar/300208 ^@ NM_033056.3(PCDH15):c.-180C>T http://identifiers.org/clinvar/359644 ^@ NM_001277115.1(DNAH11):c.6664C>G (p.Arg2222Gly) http://identifiers.org/clinvar/364480 ^@ NM_005502.3(ABCA1):c.-289G>T http://identifiers.org/clinvar/359645 ^@ NM_001277115.1(DNAH11):c.6664C>T (p.Arg2222Ter) http://identifiers.org/clinvar/300209 ^@ NM_033056.3(PCDH15):c.-288T>C http://identifiers.org/clinvar/300210 ^@ NM_000417.2(IL2RA):c.*2178T>A http://identifiers.org/clinvar/359648 ^@ NM_001277115.1(DNAH11):c.6842C>A (p.Thr2281Asn) http://identifiers.org/clinvar/359655 ^@ NM_001277115.1(DNAH11):c.8316+7G>A http://identifiers.org/clinvar/359678 ^@ NM_001277115.1(DNAH11):c.11374A>G (p.Ile3792Val) http://identifiers.org/clinvar/359685 ^@ NM_001277115.1(DNAH11):c.12336C>T (p.Asp4112=) http://identifiers.org/clinvar/359687 ^@ NM_001277115.1(DNAH11):c.12407G>A (p.Arg4136His) http://identifiers.org/clinvar/364482 ^@ NM_005502.3(ABCA1):c.-343A>C http://identifiers.org/clinvar/300218 ^@ NM_000417.2(IL2RA):c.*1672A>T http://identifiers.org/clinvar/359526 ^@ NM_001101426.3(ISPD):c.*2351C>T http://identifiers.org/clinvar/364485 ^@ NM_001079802.1(FKTN):c.-136A>G http://identifiers.org/clinvar/300220 ^@ NM_000417.2(IL2RA):c.*1575G>A http://identifiers.org/clinvar/364489 ^@ NM_001079802.1(FKTN):c.1188G>A (p.Lys396=) http://identifiers.org/clinvar/364492 ^@ NM_001079802.1(FKTN):c.*436C>T http://identifiers.org/clinvar/364510 ^@ NM_001079802.1(FKTN):c.*2910C>A http://identifiers.org/clinvar/359688 ^@ NM_001277115.1(DNAH11):c.12534A>G (p.Pro4178=) http://identifiers.org/clinvar/359527 ^@ NM_001101426.3(ISPD):c.*2336G>A http://identifiers.org/clinvar/364516 ^@ NM_001079802.1(FKTN):c.*3547C>T http://identifiers.org/clinvar/364518 ^@ NM_001079802.1(FKTN):c.*3918A>G http://identifiers.org/clinvar/364519 ^@ NM_001079802.1(FKTN):c.*4238delG http://identifiers.org/clinvar/364520 ^@ NM_001079802.1(FKTN):c.*4599G>A http://identifiers.org/clinvar/359532 ^@ NM_001101426.3(ISPD):c.*2267delA http://identifiers.org/clinvar/364521 ^@ NM_001079802.1(FKTN):c.*4825T>C http://identifiers.org/clinvar/359692 ^@ NM_001277115.1(DNAH11):c.13049+15C>T http://identifiers.org/clinvar/359693 ^@ NM_001277115.1(DNAH11):c.13050-12C>T http://identifiers.org/clinvar/300222 ^@ NM_000417.2(IL2RA):c.*1549C>T http://identifiers.org/clinvar/359695 ^@ NM_001277115.1(DNAH11):c.13176G>A (p.Thr4392=) http://identifiers.org/clinvar/359700 ^@ NM_001277115.1(DNAH11):c.*62T>C http://identifiers.org/clinvar/364534 ^@ NM_003640.4(IKBKAP):c.*1494A>G http://identifiers.org/clinvar/364538 ^@ NM_003640.4(IKBKAP):c.*1260C>T http://identifiers.org/clinvar/364540 ^@ NM_003640.4(IKBKAP):c.*1254C>A http://identifiers.org/clinvar/300227 ^@ NM_000417.2(IL2RA):c.*1186C>T http://identifiers.org/clinvar/300230 ^@ NM_000417.2(IL2RA):c.*1041C>T http://identifiers.org/clinvar/359702 ^@ NM_001277115.1(DNAH11):c.*88A>G http://identifiers.org/clinvar/359705 ^@ NM_001277115.1(DNAH11):c.*154_*155dupAA http://identifiers.org/clinvar/359707 ^@ NM_001277115.1(DNAH11):c.*181C>T http://identifiers.org/clinvar/359712 ^@ NM_032581.3(FAM126A):c.*4329delT http://identifiers.org/clinvar/359714 ^@ NM_032581.3(FAM126A):c.*4255A>G http://identifiers.org/clinvar/364543 ^@ NM_003640.4(IKBKAP):c.*1191T>G http://identifiers.org/clinvar/359534 ^@ NM_001101426.3(ISPD):c.*2243_*2244delGT http://identifiers.org/clinvar/359539 ^@ NM_001101426.3(ISPD):c.*2225A>G http://identifiers.org/clinvar/364544 ^@ NM_003640.4(IKBKAP):c.*1124C>T http://identifiers.org/clinvar/359540 ^@ NM_001101426.3(ISPD):c.*2220T>C http://identifiers.org/clinvar/359717 ^@ NM_032581.3(FAM126A):c.*4043A>G http://identifiers.org/clinvar/300236 ^@ NM_000417.2(IL2RA):c.*888C>T http://identifiers.org/clinvar/359544 ^@ NM_001101426.3(ISPD):c.*2181A>G http://identifiers.org/clinvar/300255 ^@ NM_000417.2(IL2RA):c.584-6C>T http://identifiers.org/clinvar/300267 ^@ NM_000399.4(EGR2):c.*814_*816delTCT http://identifiers.org/clinvar/359545 ^@ NM_001101426.3(ISPD):c.*2167G>A http://identifiers.org/clinvar/359723 ^@ NM_032581.3(FAM126A):c.*3486_*3489delCAGA http://identifiers.org/clinvar/359729 ^@ NM_032581.3(FAM126A):c.*2822A>T http://identifiers.org/clinvar/359553 ^@ NM_001101426.3(ISPD):c.*1849G>A http://identifiers.org/clinvar/300273 ^@ NM_000399.4(EGR2):c.*287T>A http://identifiers.org/clinvar/359730 ^@ NM_032581.3(FAM126A):c.*2661C>T http://identifiers.org/clinvar/359555 ^@ NM_001101426.3(ISPD):c.*1812C>G http://identifiers.org/clinvar/300274 ^@ NM_000399.4(EGR2):c.*145T>A http://identifiers.org/clinvar/300281 ^@ NM_000399.4(EGR2):c.-1A>G http://identifiers.org/clinvar/359731 ^@ NM_032581.3(FAM126A):c.*2459C>A http://identifiers.org/clinvar/364547 ^@ NM_003640.4(IKBKAP):c.*861T>G http://identifiers.org/clinvar/359556 ^@ NM_001101426.3(ISPD):c.*1677A>G http://identifiers.org/clinvar/359733 ^@ NM_032581.3(FAM126A):c.*2198A>G http://identifiers.org/clinvar/300291 ^@ NM_018055.4(NODAL):c.*677C>T http://identifiers.org/clinvar/300318 ^@ NM_001083116.1(PRF1):c.*441G>A http://identifiers.org/clinvar/364548 ^@ NM_003640.4(IKBKAP):c.*502C>T http://identifiers.org/clinvar/300319 ^@ NM_001083116.1(PRF1):c.*376G>A http://identifiers.org/clinvar/300322 ^@ NM_001083116.1(PRF1):c.*139C>A http://identifiers.org/clinvar/364552 ^@ NM_003640.4(IKBKAP):c.3869A>G (p.Asn1290Ser) http://identifiers.org/clinvar/300325 ^@ NM_001083116.1(PRF1):c.*89C>T http://identifiers.org/clinvar/359734 ^@ NM_032581.3(FAM126A):c.*2111G>A http://identifiers.org/clinvar/300327 ^@ NM_001083116.1(PRF1):c.1310C>T (p.Ala437Val) http://identifiers.org/clinvar/300330 ^@ NM_001083116.1(PRF1):c.941T>C (p.Leu314Pro) http://identifiers.org/clinvar/300336 ^@ NM_001083116.1(PRF1):c.55G>A (p.Val19Ile) http://identifiers.org/clinvar/359737 ^@ NM_032581.3(FAM126A):c.*2044A>G http://identifiers.org/clinvar/359738 ^@ NM_032581.3(FAM126A):c.*2001T>A http://identifiers.org/clinvar/364554 ^@ NM_003640.4(IKBKAP):c.3785C>T (p.Thr1262Met) http://identifiers.org/clinvar/300338 ^@ NM_001083116.1(PRF1):c.-53C>T http://identifiers.org/clinvar/364565 ^@ NM_003640.4(IKBKAP):c.2799G>A (p.Arg933=) http://identifiers.org/clinvar/300349 ^@ NM_000281.3(PCBD1):c.-27C>G http://identifiers.org/clinvar/300351 ^@ NM_000281.3(PCBD1):c.-53C>A http://identifiers.org/clinvar/359559 ^@ NM_001101426.3(ISPD):c.*1152_*1153dupTT http://identifiers.org/clinvar/359739 ^@ NM_032581.3(FAM126A):c.*1969G>A http://identifiers.org/clinvar/359746 ^@ NM_032581.3(FAM126A):c.*1481G>C http://identifiers.org/clinvar/359558 ^@ NM_001101426.3(ISPD):c.*1153dupT http://identifiers.org/clinvar/364568 ^@ NM_003640.4(IKBKAP):c.2008T>C (p.Phe670Leu) http://identifiers.org/clinvar/359560 ^@ NM_001101426.3(ISPD):c.*1146_*1152delGTATTTT http://identifiers.org/clinvar/300355 ^@ NM_018344.5(SLC29A3):c.-31G>C http://identifiers.org/clinvar/359750 ^@ NM_032581.3(FAM126A):c.*1255A>G http://identifiers.org/clinvar/300356 ^@ NM_018344.5(SLC29A3):c.-23C>T http://identifiers.org/clinvar/300360 ^@ NM_018344.5(SLC29A3):c.488G>T (p.Gly163Val) http://identifiers.org/clinvar/300369 ^@ NM_018344.5(SLC29A3):c.1201C>T (p.Arg401Cys) http://identifiers.org/clinvar/359752 ^@ NM_032581.3(FAM126A):c.*1007T>C http://identifiers.org/clinvar/359756 ^@ NM_032581.3(FAM126A):c.*437G>A http://identifiers.org/clinvar/364571 ^@ NM_003640.4(IKBKAP):c.1792G>A (p.Gly598Arg) http://identifiers.org/clinvar/300380 ^@ NM_018344.5(SLC29A3):c.*485G>A http://identifiers.org/clinvar/364578 ^@ NM_003640.4(IKBKAP):c.923T>C (p.Leu308Pro) http://identifiers.org/clinvar/300381 ^@ NM_018344.5(SLC29A3):c.*557A>C http://identifiers.org/clinvar/364584 ^@ NM_003640.4(IKBKAP):c.169T>C (p.Leu57=) http://identifiers.org/clinvar/364586 ^@ NM_003640.4(IKBKAP):c.-155A>T http://identifiers.org/clinvar/300386 ^@ NM_022124.5(CDH23):c.-353C>G http://identifiers.org/clinvar/359759 ^@ NM_032581.3(FAM126A):c.*435C>T http://identifiers.org/clinvar/359766 ^@ NM_032581.3(FAM126A):c.*94G>A http://identifiers.org/clinvar/359783 ^@ NM_032581.3(FAM126A):c.281A>G (p.Asn94Ser) http://identifiers.org/clinvar/359565 ^@ NM_001101426.3(ISPD):c.*1043C>G http://identifiers.org/clinvar/364593 ^@ NM_003640.4(IKBKAP):c.-353C>A http://identifiers.org/clinvar/359785 ^@ NM_032581.3(FAM126A):c.-29+3G>C http://identifiers.org/clinvar/359791 ^@ NM_001031710.2(KLHL7):c.-231G>C http://identifiers.org/clinvar/359567 ^@ NM_001101426.3(ISPD):c.*831C>G http://identifiers.org/clinvar/359801 ^@ NM_001031710.2(KLHL7):c.1578T>C (p.Val526=) http://identifiers.org/clinvar/359570 ^@ NM_001101426.3(ISPD):c.*686G>T http://identifiers.org/clinvar/359573 ^@ NM_001101426.3(ISPD):c.*465T>C http://identifiers.org/clinvar/359806 ^@ NM_001031710.2(KLHL7):c.*232A>G http://identifiers.org/clinvar/300392 ^@ NM_022124.5(CDH23):c.-185G>C http://identifiers.org/clinvar/359810 ^@ NM_001031710.2(KLHL7):c.*762G>A http://identifiers.org/clinvar/359814 ^@ NM_001031710.2(KLHL7):c.*898A>T http://identifiers.org/clinvar/300395 ^@ NM_022124.5(CDH23):c.-35_-31delAGGCG http://identifiers.org/clinvar/359817 ^@ NM_001031710.2(KLHL7):c.*1052T>C http://identifiers.org/clinvar/364594 ^@ NM_003640.4(IKBKAP):c.-403C>T http://identifiers.org/clinvar/364602 ^@ NM_005592.3(MUSK):c.500T>C (p.Ile167Thr) http://identifiers.org/clinvar/364603 ^@ NM_005592.3(MUSK):c.780T>C (p.Ser260=) http://identifiers.org/clinvar/359576 ^@ NM_001101426.3(ISPD):c.*321A>G http://identifiers.org/clinvar/300402 ^@ NM_022124.5(CDH23):c.588G>A (p.Glu196=) http://identifiers.org/clinvar/359584 ^@ NM_001101426.3(ISPD):c.1026+10T>C http://identifiers.org/clinvar/364609 ^@ NM_005592.3(MUSK):c.1516A>G (p.Ile506Val) http://identifiers.org/clinvar/359586 ^@ NM_001101426.3(ISPD):c.702G>C (p.Leu234Phe) http://identifiers.org/clinvar/359587 ^@ NM_001101426.3(ISPD):c.684+12G>A http://identifiers.org/clinvar/364622 ^@ NM_000031.5(ALAD):c.*1741G>A http://identifiers.org/clinvar/300404 ^@ NM_022124.5(CDH23):c.960C>T (p.Asn320=) http://identifiers.org/clinvar/364624 ^@ NM_000031.5(ALAD):c.*1631G>A http://identifiers.org/clinvar/359591 ^@ NM_001101426.3(ISPD):c.360C>G (p.Val120=) http://identifiers.org/clinvar/364625 ^@ NM_000031.5(ALAD):c.*1511T>C http://identifiers.org/clinvar/359592 ^@ NM_001101426.3(ISPD):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/359819 ^@ NM_004403.2(DFNA5):c.*607A>G http://identifiers.org/clinvar/359822 ^@ NM_004403.2(DFNA5):c.*527C>T http://identifiers.org/clinvar/364630 ^@ NM_000031.5(ALAD):c.*676dupA http://identifiers.org/clinvar/359826 ^@ NM_004403.2(DFNA5):c.*448T>C http://identifiers.org/clinvar/359831 ^@ NM_004403.2(DFNA5):c.*321T>G http://identifiers.org/clinvar/359597 ^@ NM_001277115.1(DNAH11):c.684A>G (p.Ser228=) http://identifiers.org/clinvar/359598 ^@ NM_001277115.1(DNAH11):c.695C>T (p.Pro232Leu) http://identifiers.org/clinvar/364633 ^@ NM_000031.5(ALAD):c.*459_*463delGTTGA http://identifiers.org/clinvar/300407 ^@ NM_022124.5(CDH23):c.1607G>A (p.Arg536Gln) http://identifiers.org/clinvar/300408 ^@ NM_022124.5(CDH23):c.1751G>A (p.Arg584Gln) http://identifiers.org/clinvar/359838 ^@ NM_004403.2(DFNA5):c.1349G>A (p.Arg450His) http://identifiers.org/clinvar/359843 ^@ NM_004403.2(DFNA5):c.1121C>T (p.Pro374Leu) http://identifiers.org/clinvar/300410 ^@ NM_022124.5(CDH23):c.1858+6T>C http://identifiers.org/clinvar/359844 ^@ NM_004403.2(DFNA5):c.864G>A (p.Ala288=) http://identifiers.org/clinvar/300414 ^@ NM_022124.5(CDH23):c.2353A>C (p.Ile785Leu) http://identifiers.org/clinvar/364634 ^@ NM_000031.5(ALAD):c.*438G>C http://identifiers.org/clinvar/300417 ^@ NM_022124.5(CDH23):c.2794G>A (p.Gly932Ser) http://identifiers.org/clinvar/359846 ^@ NM_004403.2(DFNA5):c.772C>T (p.Leu258=) http://identifiers.org/clinvar/359599 ^@ NM_001277115.1(DNAH11):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/364635 ^@ NM_000031.5(ALAD):c.*422G>T http://identifiers.org/clinvar/359607 ^@ NM_001277115.1(DNAH11):c.1995C>T (p.His665=) http://identifiers.org/clinvar/359612 ^@ NM_001277115.1(DNAH11):c.2328G>A (p.Thr776=) http://identifiers.org/clinvar/359622 ^@ NM_001277115.1(DNAH11):c.3497A>C (p.His1166Pro) http://identifiers.org/clinvar/364638 ^@ NM_000031.5(ALAD):c.*127C>T http://identifiers.org/clinvar/300420 ^@ NM_022124.5(CDH23):c.2953+10C>T http://identifiers.org/clinvar/300431 ^@ NM_022124.5(CDH23):c.4179C>T (p.Asp1393=) http://identifiers.org/clinvar/364640 ^@ NM_000031.5(ALAD):c.940A>G (p.Ile314Val) http://identifiers.org/clinvar/364643 ^@ NM_000031.5(ALAD):c.724G>A (p.Val242Ile) http://identifiers.org/clinvar/364644 ^@ NM_000031.5(ALAD):c.715-14C>A http://identifiers.org/clinvar/359627 ^@ NM_001277115.1(DNAH11):c.4790A>G (p.Tyr1597Cys) http://identifiers.org/clinvar/359856 ^@ NM_004403.2(DFNA5):c.358A>C (p.Lys120Gln) http://identifiers.org/clinvar/359857 ^@ NM_004403.2(DFNA5):c.325G>A (p.Val109Ile) http://identifiers.org/clinvar/359634 ^@ NM_001277115.1(DNAH11):c.5318A>G (p.His1773Arg) http://identifiers.org/clinvar/359638 ^@ NM_001277115.1(DNAH11):c.5702A>C (p.Glu1901Ala) http://identifiers.org/clinvar/300435 ^@ NM_022124.5(CDH23):c.4780C>T (p.Arg1594Cys) http://identifiers.org/clinvar/300436 ^@ NM_022124.5(CDH23):c.4795T>C (p.Phe1599Leu) http://identifiers.org/clinvar/359861 ^@ NM_004403.2(DFNA5):c.-235C>T http://identifiers.org/clinvar/359863 ^@ NM_018947.5(CYCS):c.*5013T>C http://identifiers.org/clinvar/300449 ^@ NM_022124.5(CDH23):c.6004C>G (p.Leu2002Val) http://identifiers.org/clinvar/359865 ^@ NM_018947.5(CYCS):c.*4850G>C http://identifiers.org/clinvar/359639 ^@ NM_001277115.1(DNAH11):c.6017C>T (p.Pro2006Leu) http://identifiers.org/clinvar/359870 ^@ NM_018947.5(CYCS):c.*4524delA http://identifiers.org/clinvar/364646 ^@ NM_000031.5(ALAD):c.521G>A (p.Arg174His) http://identifiers.org/clinvar/359646 ^@ NM_001277115.1(DNAH11):c.6683+16_6683+18delTAG http://identifiers.org/clinvar/364650 ^@ NM_000031.5(ALAD):c.414C>T (p.Asn138=) http://identifiers.org/clinvar/359652 ^@ NM_001277115.1(DNAH11):c.7553T>C (p.Val2518Ala) http://identifiers.org/clinvar/359871 ^@ NM_018947.5(CYCS):c.*4516C>T http://identifiers.org/clinvar/300450 ^@ NM_022124.5(CDH23):c.6376C>T (p.Arg2126Cys) http://identifiers.org/clinvar/300452 ^@ NM_022124.5(CDH23):c.6429G>A (p.Thr2143=) http://identifiers.org/clinvar/359876 ^@ NM_018947.5(CYCS):c.*4158A>T http://identifiers.org/clinvar/300453 ^@ NM_022124.5(CDH23):c.7091A>G (p.Glu2364Gly) http://identifiers.org/clinvar/359663 ^@ NM_001277115.1(DNAH11):c.8973G>A (p.Thr2991=) http://identifiers.org/clinvar/300455 ^@ NM_022124.5(CDH23):c.7482+12C>A http://identifiers.org/clinvar/359665 ^@ NM_001277115.1(DNAH11):c.9103-15T>C http://identifiers.org/clinvar/359877 ^@ NM_018947.5(CYCS):c.*4136A>G http://identifiers.org/clinvar/359883 ^@ NM_018947.5(CYCS):c.*3615G>A http://identifiers.org/clinvar/364670 ^@ NM_015404.3(WHRN):c.*633T>C http://identifiers.org/clinvar/300456 ^@ NM_022124.5(CDH23):c.7551C>T (p.Ser2517=) http://identifiers.org/clinvar/364671 ^@ NM_015404.3(WHRN):c.*554C>T http://identifiers.org/clinvar/364677 ^@ NM_015404.3(WHRN):c.*149A>G http://identifiers.org/clinvar/300459 ^@ NM_022124.5(CDH23):c.7999G>C (p.Asp2667His) http://identifiers.org/clinvar/364680 ^@ NM_015404.3(WHRN):c.2381C>T (p.Pro794Leu) http://identifiers.org/clinvar/300472 ^@ NM_022124.5(CDH23):c.9198+13C>T http://identifiers.org/clinvar/300475 ^@ NM_022124.5(CDH23):c.9739-12G>A http://identifiers.org/clinvar/300480 ^@ NM_022124.5(CDH23):c.10042C>A (p.Pro3348Thr) http://identifiers.org/clinvar/359887 ^@ NM_018947.5(CYCS):c.*3576T>C http://identifiers.org/clinvar/300482 ^@ NM_022124.5(CDH23):c.*68G>C http://identifiers.org/clinvar/359666 ^@ NM_001277115.1(DNAH11):c.9292C>T (p.Arg3098Cys) http://identifiers.org/clinvar/300496 ^@ NM_022124.5(CDH23):c.*612G>A http://identifiers.org/clinvar/300502 ^@ NM_002778.3(PSAP):c.*276G>A http://identifiers.org/clinvar/300503 ^@ NM_002778.3(PSAP):c.*122C>G http://identifiers.org/clinvar/300504 ^@ NM_002778.3(PSAP):c.*113C>T http://identifiers.org/clinvar/359891 ^@ NM_018947.5(CYCS):c.*3330G>T http://identifiers.org/clinvar/300505 ^@ NM_002778.3(PSAP):c.*73C>T http://identifiers.org/clinvar/359896 ^@ NM_018947.5(CYCS):c.*2951A>G http://identifiers.org/clinvar/300507 ^@ NM_002778.3(PSAP):c.1476T>C (p.Thr492=) http://identifiers.org/clinvar/364683 ^@ NM_015404.3(WHRN):c.2173G>C (p.Glu725Gln) http://identifiers.org/clinvar/364686 ^@ NM_015404.3(WHRN):c.1683C>T (p.Leu561=) http://identifiers.org/clinvar/300510 ^@ NM_002778.3(PSAP):c.1432-4A>G http://identifiers.org/clinvar/364694 ^@ NM_015404.3(WHRN):c.1160C>T (p.Ser387Leu) http://identifiers.org/clinvar/359669 ^@ NM_001277115.1(DNAH11):c.9869C>G (p.Ser3290Cys) http://identifiers.org/clinvar/359905 ^@ NM_018947.5(CYCS):c.*2455A>G http://identifiers.org/clinvar/359671 ^@ NM_001277115.1(DNAH11):c.10121A>G (p.Lys3374Arg) http://identifiers.org/clinvar/359907 ^@ NM_018947.5(CYCS):c.*2332T>C http://identifiers.org/clinvar/364701 ^@ NM_015404.3(WHRN):c.-257C>G http://identifiers.org/clinvar/359674 ^@ NM_001277115.1(DNAH11):c.10750C>T (p.His3584Tyr) http://identifiers.org/clinvar/359675 ^@ NM_001277115.1(DNAH11):c.11081A>T (p.Asn3694Ile) http://identifiers.org/clinvar/359908 ^@ NM_018947.5(CYCS):c.*2297C>G http://identifiers.org/clinvar/359677 ^@ NM_001277115.1(DNAH11):c.11249T>G (p.Val3750Gly) http://identifiers.org/clinvar/300514 ^@ NM_002778.3(PSAP):c.1172C>T (p.Thr391Met) http://identifiers.org/clinvar/364709 ^@ NM_015404.3(WHRN):c.-581C>T http://identifiers.org/clinvar/359681 ^@ NM_001277115.1(DNAH11):c.11786T>C (p.Ile3929Thr) http://identifiers.org/clinvar/300516 ^@ NM_002778.3(PSAP):c.1056C>T (p.Ser352=) http://identifiers.org/clinvar/359682 ^@ NM_001277115.1(DNAH11):c.12008A>T (p.Lys4003Met) http://identifiers.org/clinvar/300520 ^@ NM_002778.3(PSAP):c.911A>G (p.Lys304Arg) http://identifiers.org/clinvar/300526 ^@ NM_002778.3(PSAP):c.380G>A (p.Arg127His) http://identifiers.org/clinvar/364712 ^@ NM_012210.3(TRIM32):c.-133G>C http://identifiers.org/clinvar/364720 ^@ NM_012210.3(TRIM32):c.1720G>T (p.Asp574Tyr) http://identifiers.org/clinvar/364722 ^@ NM_012210.3(TRIM32):c.*112G>A http://identifiers.org/clinvar/359684 ^@ NM_001277115.1(DNAH11):c.12336C>G (p.Asp4112Glu) http://identifiers.org/clinvar/300527 ^@ NM_002778.3(PSAP):c.336C>T (p.Ser112=) http://identifiers.org/clinvar/359689 ^@ NM_001277115.1(DNAH11):c.12549A>C (p.Pro4183=) http://identifiers.org/clinvar/300532 ^@ NM_002778.3(PSAP):c.174+9C>T http://identifiers.org/clinvar/359910 ^@ NM_018947.5(CYCS):c.*2222C>T http://identifiers.org/clinvar/359691 ^@ NM_001277115.1(DNAH11):c.13035T>C (p.Tyr4345=) http://identifiers.org/clinvar/359911 ^@ NM_018947.5(CYCS):c.*2216C>G http://identifiers.org/clinvar/364723 ^@ NM_012210.3(TRIM32):c.*129C>T http://identifiers.org/clinvar/364726 ^@ NM_012210.3(TRIM32):c.*283G>T http://identifiers.org/clinvar/364729 ^@ NM_012210.3(TRIM32):c.*589G>A http://identifiers.org/clinvar/359696 ^@ NM_001277115.1(DNAH11):c.13262C>T (p.Pro4421Leu) http://identifiers.org/clinvar/359912 ^@ NM_018947.5(CYCS):c.*2187C>T http://identifiers.org/clinvar/359925 ^@ NM_018947.5(CYCS):c.*1676_*1678dupTTT http://identifiers.org/clinvar/359699 ^@ NM_001277115.1(DNAH11):c.13399G>A (p.Val4467Met) http://identifiers.org/clinvar/300535 ^@ NM_002778.3(PSAP):c.94T>G (p.Trp32Gly) http://identifiers.org/clinvar/300536 ^@ NM_002778.3(PSAP):c.88G>T (p.Ala30Ser) http://identifiers.org/clinvar/359708 ^@ NM_001277115.1(DNAH11):c.*189C>G http://identifiers.org/clinvar/359924 ^@ NM_018947.5(CYCS):c.*1678dupT http://identifiers.org/clinvar/359927 ^@ NM_018947.5(CYCS):c.*1427A>C http://identifiers.org/clinvar/359932 ^@ NM_018947.5(CYCS):c.*1109G>A http://identifiers.org/clinvar/364733 ^@ NM_012210.3(TRIM32):c.*866A>C http://identifiers.org/clinvar/364734 ^@ NM_012210.3(TRIM32):c.*935A>G http://identifiers.org/clinvar/364743 ^@ NM_018249.5(CDK5RAP2):c.5649A>G (p.Pro1883=) http://identifiers.org/clinvar/359710 ^@ NM_001277115.1(DNAH11):c.*264G>A http://identifiers.org/clinvar/364747 ^@ NM_018249.5(CDK5RAP2):c.5241C>T (p.Leu1747=) http://identifiers.org/clinvar/300538 ^@ NM_002778.3(PSAP):c.41-13G>C http://identifiers.org/clinvar/300540 ^@ NM_002778.3(PSAP):c.-22G>C http://identifiers.org/clinvar/359936 ^@ NM_018947.5(CYCS):c.*385G>C http://identifiers.org/clinvar/300542 ^@ NM_002778.3(PSAP):c.-33T>C http://identifiers.org/clinvar/359940 ^@ NM_018947.5(CYCS):c.-128A>G http://identifiers.org/clinvar/300546 ^@ NM_002778.3(PSAP):c.-65C>T http://identifiers.org/clinvar/359711 ^@ NM_001277115.1(DNAH11):c.*300_*303dupACAA http://identifiers.org/clinvar/364749 ^@ NM_018249.5(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) http://identifiers.org/clinvar/300547 ^@ NM_002778.3(PSAP):c.-99T>G http://identifiers.org/clinvar/300550 ^@ NM_004273.4(CHST3):c.-270delC http://identifiers.org/clinvar/300560 ^@ NM_004273.4(CHST3):c.394C>G (p.Arg132Gly) http://identifiers.org/clinvar/364762 ^@ NM_018249.5(CDK5RAP2):c.2655C>G (p.Phe885Leu) http://identifiers.org/clinvar/364765 ^@ NM_018249.5(CDK5RAP2):c.2568G>A (p.Gln856=) http://identifiers.org/clinvar/364767 ^@ NM_018249.5(CDK5RAP2):c.2149G>A (p.Glu717Lys) http://identifiers.org/clinvar/359945 ^@ NM_005522.4(HOXA1):c.*953G>A http://identifiers.org/clinvar/364773 ^@ NM_018249.5(CDK5RAP2):c.1709C>G (p.Ser570Cys) http://identifiers.org/clinvar/364775 ^@ NM_018249.5(CDK5RAP2):c.1627-9C>A http://identifiers.org/clinvar/300573 ^@ NM_004273.4(CHST3):c.*290G>C http://identifiers.org/clinvar/359716 ^@ NM_032581.3(FAM126A):c.*4219T>A http://identifiers.org/clinvar/364777 ^@ NM_018249.5(CDK5RAP2):c.1239G>T (p.Gln413His) http://identifiers.org/clinvar/359721 ^@ NM_032581.3(FAM126A):c.*3680A>G http://identifiers.org/clinvar/359722 ^@ NM_032581.3(FAM126A):c.*3491A>T http://identifiers.org/clinvar/364789 ^@ NM_018249.5(CDK5RAP2):c.-151C>A http://identifiers.org/clinvar/364793 ^@ NM_018249.5(CDK5RAP2):c.-185C>G http://identifiers.org/clinvar/364794 ^@ NM_000177.4(GSN):c.-36C>T http://identifiers.org/clinvar/359742 ^@ NM_032581.3(FAM126A):c.*1796A>G http://identifiers.org/clinvar/300579 ^@ NM_004273.4(CHST3):c.*523A>G http://identifiers.org/clinvar/300581 ^@ NM_004273.4(CHST3):c.*763C>A http://identifiers.org/clinvar/300583 ^@ NM_004273.4(CHST3):c.*812G>A http://identifiers.org/clinvar/300588 ^@ NM_004273.4(CHST3):c.*922C>T http://identifiers.org/clinvar/359948 ^@ NM_005522.4(HOXA1):c.*470T>A http://identifiers.org/clinvar/359951 ^@ NM_005522.4(HOXA1):c.*183G>A http://identifiers.org/clinvar/359955 ^@ NM_005522.4(HOXA1):c.741G>A (p.Glu247=) http://identifiers.org/clinvar/359747 ^@ NM_032581.3(FAM126A):c.*1428T>C http://identifiers.org/clinvar/364796 ^@ NM_000177.4(GSN):c.182A>G (p.Lys61Arg) http://identifiers.org/clinvar/364802 ^@ NM_000177.4(GSN):c.424C>T (p.Arg142Trp) http://identifiers.org/clinvar/364807 ^@ NM_000177.4(GSN):c.1190G>A (p.Arg397Gln) http://identifiers.org/clinvar/359751 ^@ NM_032581.3(FAM126A):c.*1008G>A http://identifiers.org/clinvar/359961 ^@ NM_005522.4(HOXA1):c.546T>C (p.Pro182=) http://identifiers.org/clinvar/300594 ^@ NM_004273.4(CHST3):c.*1088A>G http://identifiers.org/clinvar/364813 ^@ NM_000177.4(GSN):c.1413C>T (p.Gly471=) http://identifiers.org/clinvar/300595 ^@ NM_004273.4(CHST3):c.*1088A>T http://identifiers.org/clinvar/364818 ^@ NM_000177.4(GSN):c.1688C>G (p.Thr563Ser) http://identifiers.org/clinvar/364834 ^@ NM_000177.4(GSN):c.*111_*116dupGTGTGT http://identifiers.org/clinvar/364838 ^@ NM_000177.4(GSN):c.*136dupT http://identifiers.org/clinvar/300600 ^@ NM_004273.4(CHST3):c.*1184C>G http://identifiers.org/clinvar/364842 ^@ NM_000177.4(GSN):c.*194G>A http://identifiers.org/clinvar/300602 ^@ NM_004273.4(CHST3):c.*1244G>T http://identifiers.org/clinvar/364876 ^@ NM_002316.3(LMX1B):c.57G>A (p.Thr19=) http://identifiers.org/clinvar/300604 ^@ NM_004273.4(CHST3):c.*1278C>T http://identifiers.org/clinvar/364887 ^@ NM_002316.3(LMX1B):c.972G>C (p.Gln324His) http://identifiers.org/clinvar/359968 ^@ NM_005522.4(HOXA1):c.196C>T (p.His66Tyr) http://identifiers.org/clinvar/359969 ^@ NM_005522.4(HOXA1):c.194A>C (p.His65Pro) http://identifiers.org/clinvar/359971 ^@ NM_005522.4(HOXA1):c.71C>T (p.Ser24Leu) http://identifiers.org/clinvar/359972 ^@ NM_006735.3(HOXA2):c.*357T>C http://identifiers.org/clinvar/300609 ^@ NM_004273.4(CHST3):c.*1404C>G http://identifiers.org/clinvar/300612 ^@ NM_004273.4(CHST3):c.*1447C>A http://identifiers.org/clinvar/364897 ^@ NM_002316.3(LMX1B):c.*173G>A http://identifiers.org/clinvar/359753 ^@ NM_032581.3(FAM126A):c.*858T>A http://identifiers.org/clinvar/300613 ^@ NM_004273.4(CHST3):c.*1463G>T http://identifiers.org/clinvar/359754 ^@ NM_032581.3(FAM126A):c.*829T>C http://identifiers.org/clinvar/300617 ^@ NM_004273.4(CHST3):c.*1664G>C http://identifiers.org/clinvar/364900 ^@ NM_002316.3(LMX1B):c.*277C>T http://identifiers.org/clinvar/300619 ^@ NM_004273.4(CHST3):c.*1823G>C http://identifiers.org/clinvar/364903 ^@ NM_002316.3(LMX1B):c.*401G>A http://identifiers.org/clinvar/300624 ^@ NM_004273.4(CHST3):c.*1982_*1983dupGT http://identifiers.org/clinvar/364909 ^@ NM_002316.3(LMX1B):c.*584C>T http://identifiers.org/clinvar/300626 ^@ NM_004273.4(CHST3):c.*2126A>C http://identifiers.org/clinvar/364911 ^@ NM_002316.3(LMX1B):c.*681C>T http://identifiers.org/clinvar/359757 ^@ NM_032581.3(FAM126A):c.*436T>G http://identifiers.org/clinvar/359979 ^@ NM_006735.3(HOXA2):c.1005G>A (p.Gln335=) http://identifiers.org/clinvar/359980 ^@ NM_006735.3(HOXA2):c.807C>A (p.Ser269=) http://identifiers.org/clinvar/364925 ^@ NM_002316.3(LMX1B):c.*1389_*1398delTTTTGTTTTGinsGTTTT http://identifiers.org/clinvar/359761 ^@ NM_032581.3(FAM126A):c.*372G>C http://identifiers.org/clinvar/359982 ^@ NM_006735.3(HOXA2):c.394T>A (p.Ser132Thr) http://identifiers.org/clinvar/300628 ^@ NM_004273.4(CHST3):c.*2178G>T http://identifiers.org/clinvar/364931 ^@ NM_002316.3(LMX1B):c.*1531T>G http://identifiers.org/clinvar/364935 ^@ NM_002316.3(LMX1B):c.*1582A>G http://identifiers.org/clinvar/364936 ^@ NM_002316.3(LMX1B):c.*1604A>G http://identifiers.org/clinvar/364937 ^@ NM_002316.3(LMX1B):c.*1612C>T http://identifiers.org/clinvar/364943 ^@ NM_002316.3(LMX1B):c.*1716A>G http://identifiers.org/clinvar/300629 ^@ NM_004273.4(CHST3):c.*2226A>G http://identifiers.org/clinvar/359984 ^@ NM_006735.3(HOXA2):c.-57C>T http://identifiers.org/clinvar/359987 ^@ NM_006735.3(HOXA2):c.-140T>C http://identifiers.org/clinvar/300630 ^@ NM_004273.4(CHST3):c.*2349A>G http://identifiers.org/clinvar/359762 ^@ NM_032581.3(FAM126A):c.*241T>C http://identifiers.org/clinvar/364945 ^@ NM_002316.3(LMX1B):c.*1754C>T http://identifiers.org/clinvar/300632 ^@ NM_004273.4(CHST3):c.*2422T>C http://identifiers.org/clinvar/364947 ^@ NM_002316.3(LMX1B):c.*1992T>C http://identifiers.org/clinvar/300633 ^@ NM_004273.4(CHST3):c.*2592C>T http://identifiers.org/clinvar/364952 ^@ NM_002316.3(LMX1B):c.*2184A>G http://identifiers.org/clinvar/359763 ^@ NM_032581.3(FAM126A):c.*232T>C http://identifiers.org/clinvar/300634 ^@ NM_004273.4(CHST3):c.*2656A>G http://identifiers.org/clinvar/359767 ^@ NM_032581.3(FAM126A):c.*77C>G http://identifiers.org/clinvar/359994 ^@ NM_002047.3(GARS):c.-205C>T http://identifiers.org/clinvar/359777 ^@ NM_032581.3(FAM126A):c.855A>G (p.Ser285=) http://identifiers.org/clinvar/300642 ^@ NM_004273.4(CHST3):c.*3090T>A http://identifiers.org/clinvar/359780 ^@ NM_032581.3(FAM126A):c.530+14A>G http://identifiers.org/clinvar/359995 ^@ NM_002047.3(GARS):c.-197G>C http://identifiers.org/clinvar/359997 ^@ NM_002047.3(GARS):c.-80C>T http://identifiers.org/clinvar/359998 ^@ NM_002047.3(GARS):c.-69T>A http://identifiers.org/clinvar/360002 ^@ NM_002047.3(GARS):c.270C>T (p.Asp90=) http://identifiers.org/clinvar/360004 ^@ NM_002047.3(GARS):c.699C>T (p.Val233=) http://identifiers.org/clinvar/360009 ^@ NM_002047.3(GARS):c.882-4A>G http://identifiers.org/clinvar/300656 ^@ NM_004273.4(CHST3):c.*3857G>A http://identifiers.org/clinvar/360017 ^@ NM_002047.3(GARS):c.1923T>C (p.His641=) http://identifiers.org/clinvar/360018 ^@ NM_002047.3(GARS):c.2211C>T (p.Ile737=) http://identifiers.org/clinvar/364955 ^@ NM_002316.3(LMX1B):c.*2394G>C http://identifiers.org/clinvar/364958 ^@ NM_002316.3(LMX1B):c.*2612T>C http://identifiers.org/clinvar/360027 ^@ NM_000823.3(GHRHR):c.29T>G (p.Val10Gly) http://identifiers.org/clinvar/359781 ^@ NM_032581.3(FAM126A):c.530+12G>A http://identifiers.org/clinvar/360028 ^@ NM_000823.3(GHRHR):c.57+1G>T http://identifiers.org/clinvar/360030 ^@ NM_000823.3(GHRHR):c.485A>T (p.Asn162Ile) http://identifiers.org/clinvar/360031 ^@ NM_000823.3(GHRHR):c.598-10T>C http://identifiers.org/clinvar/364971 ^@ NM_002316.3(LMX1B):c.*3385C>A http://identifiers.org/clinvar/300659 ^@ NM_004273.4(CHST3):c.*3905C>T http://identifiers.org/clinvar/300667 ^@ NM_004273.4(CHST3):c.*4336A>G http://identifiers.org/clinvar/364979 ^@ NM_002316.3(LMX1B):c.*3771G>T http://identifiers.org/clinvar/364982 ^@ NM_002316.3(LMX1B):c.*3833A>G http://identifiers.org/clinvar/364985 ^@ NM_002316.3(LMX1B):c.*3891G>A http://identifiers.org/clinvar/360035 ^@ NM_000823.3(GHRHR):c.875C>G (p.Ser292Trp) http://identifiers.org/clinvar/360037 ^@ NM_000823.3(GHRHR):c.1265T>C (p.Met422Thr) http://identifiers.org/clinvar/360050 ^@ NM_198428.2(BBS9):c.-408T>G http://identifiers.org/clinvar/364986 ^@ NM_002316.3(LMX1B):c.*3908T>C http://identifiers.org/clinvar/360052 ^@ NM_198428.2(BBS9):c.-397G>A http://identifiers.org/clinvar/300668 ^@ NM_004273.4(CHST3):c.*4341C>A http://identifiers.org/clinvar/300676 ^@ NM_004273.4(CHST3):c.*4534G>A http://identifiers.org/clinvar/300680 ^@ NM_004273.4(CHST3):c.*4785G>A http://identifiers.org/clinvar/300685 ^@ NM_004273.4(CHST3):c.*4884C>G http://identifiers.org/clinvar/360067 ^@ NM_198428.2(BBS9):c.2070C>G (p.Ala690=) http://identifiers.org/clinvar/360068 ^@ NM_198428.2(BBS9):c.2086G>A (p.Asp696Asn) http://identifiers.org/clinvar/360074 ^@ NM_198428.2(BBS9):c.*103T>C http://identifiers.org/clinvar/359790 ^@ NM_001031710.2(KLHL7):c.-235G>T http://identifiers.org/clinvar/360081 ^@ NM_198428.2(BBS9):c.*549A>G http://identifiers.org/clinvar/300693 ^@ NM_016065.3(MRPS16):c.*1295T>A http://identifiers.org/clinvar/360089 ^@ NM_133468.4(BMPER):c.-192G>A http://identifiers.org/clinvar/360095 ^@ NM_133468.4(BMPER):c.-25C>A http://identifiers.org/clinvar/364995 ^@ NM_002316.3(LMX1B):c.*4303T>C http://identifiers.org/clinvar/300703 ^@ NM_016065.3(MRPS16):c.*642T>C http://identifiers.org/clinvar/364845 ^@ NM_000550.2(TYRP1):c.-161G>T http://identifiers.org/clinvar/300708 ^@ NM_016065.3(MRPS16):c.*529A>G http://identifiers.org/clinvar/364852 ^@ NM_000550.2(TYRP1):c.208G>A (p.Ala70Thr) http://identifiers.org/clinvar/364853 ^@ NM_000550.2(TYRP1):c.308G>A (p.Gly103Asp) http://identifiers.org/clinvar/359795 ^@ NM_001031710.2(KLHL7):c.-38G>A http://identifiers.org/clinvar/359796 ^@ NM_001031710.2(KLHL7):c.-16A>G http://identifiers.org/clinvar/360096 ^@ NM_133468.4(BMPER):c.115G>T (p.Ala39Ser) http://identifiers.org/clinvar/359797 ^@ NM_001031710.2(KLHL7):c.318-7T>C http://identifiers.org/clinvar/359798 ^@ NM_001031710.2(KLHL7):c.352C>T (p.Leu118=) http://identifiers.org/clinvar/359799 ^@ NM_001031710.2(KLHL7):c.443-10_443-9delCT http://identifiers.org/clinvar/364863 ^@ NM_000550.2(TYRP1):c.*298_*301delAAGT http://identifiers.org/clinvar/360103 ^@ NM_133468.4(BMPER):c.580G>A (p.Gly194Ser) http://identifiers.org/clinvar/300726 ^@ NM_016065.3(MRPS16):c.-83_-82delGT http://identifiers.org/clinvar/359802 ^@ NM_001031710.2(KLHL7):c.*7A>G http://identifiers.org/clinvar/360106 ^@ NM_133468.4(BMPER):c.1003C>A (p.Gln335Lys) http://identifiers.org/clinvar/359805 ^@ NM_001031710.2(KLHL7):c.*201G>A http://identifiers.org/clinvar/300730 ^@ NM_016065.3(MRPS16):c.-134C>T http://identifiers.org/clinvar/300732 ^@ NM_016065.3(MRPS16):c.-183A>G http://identifiers.org/clinvar/359816 ^@ NM_001031710.2(KLHL7):c.*971G>T http://identifiers.org/clinvar/359820 ^@ NM_004403.2(DFNA5):c.*583T>G http://identifiers.org/clinvar/359821 ^@ NM_004403.2(DFNA5):c.*537C>T http://identifiers.org/clinvar/359827 ^@ NM_004403.2(DFNA5):c.*429T>C http://identifiers.org/clinvar/359833 ^@ NM_004403.2(DFNA5):c.*260A>G http://identifiers.org/clinvar/364864 ^@ NM_000550.2(TYRP1):c.*319_*320dupTT http://identifiers.org/clinvar/364865 ^@ NM_000550.2(TYRP1):c.*404A>T http://identifiers.org/clinvar/364871 ^@ NM_000550.2(TYRP1):c.*591G>T http://identifiers.org/clinvar/360123 ^@ NM_133468.4(BMPER):c.*136_*137dupTA http://identifiers.org/clinvar/300735 ^@ NM_002658.4(PLAU):c.-32+9C>G http://identifiers.org/clinvar/360127 ^@ NM_133468.4(BMPER):c.*564T>C http://identifiers.org/clinvar/300737 ^@ NM_002658.4(PLAU):c.-20A>G http://identifiers.org/clinvar/360132 ^@ NM_133468.4(BMPER):c.*678G>T http://identifiers.org/clinvar/300739 ^@ NM_002658.4(PLAU):c.17C>A (p.Ala6Glu) http://identifiers.org/clinvar/360140 ^@ NM_133468.4(BMPER):c.*1396A>G http://identifiers.org/clinvar/364874 ^@ NM_000550.2(TYRP1):c.*955dupT http://identifiers.org/clinvar/359852 ^@ NM_004403.2(DFNA5):c.576+13G>A http://identifiers.org/clinvar/360141 ^@ NM_133468.4(BMPER):c.*1411G>A http://identifiers.org/clinvar/365004 ^@ NM_138361.5(LRSAM1):c.-401C>T http://identifiers.org/clinvar/359864 ^@ NM_018947.5(CYCS):c.*5004_*5005delAA http://identifiers.org/clinvar/360142 ^@ NM_133468.4(BMPER):c.*1424A>G http://identifiers.org/clinvar/365007 ^@ NM_138361.5(LRSAM1):c.-309A>G http://identifiers.org/clinvar/360148 ^@ NM_133468.4(BMPER):c.*1878C>G http://identifiers.org/clinvar/365013 ^@ NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) http://identifiers.org/clinvar/360149 ^@ NM_133468.4(BMPER):c.*1929dupA http://identifiers.org/clinvar/360160 ^@ NM_000168.5(GLI3):c.*3094T>C http://identifiers.org/clinvar/300744 ^@ NM_002658.4(PLAU):c.163A>G (p.Lys55Glu) http://identifiers.org/clinvar/300746 ^@ NM_002658.4(PLAU):c.308C>T (p.Thr103Met) http://identifiers.org/clinvar/360170 ^@ NM_000168.5(GLI3):c.*2358delT http://identifiers.org/clinvar/360172 ^@ NM_000168.5(GLI3):c.*2347C>A http://identifiers.org/clinvar/359874 ^@ NM_018947.5(CYCS):c.*4209A>T http://identifiers.org/clinvar/300748 ^@ NM_002658.4(PLAU):c.368+6G>C http://identifiers.org/clinvar/359875 ^@ NM_018947.5(CYCS):c.*4208G>C http://identifiers.org/clinvar/300749 ^@ NM_002658.4(PLAU):c.581C>A (p.Ala194Glu) http://identifiers.org/clinvar/365020 ^@ NM_138361.5(LRSAM1):c.904-9C>T http://identifiers.org/clinvar/365029 ^@ NM_138361.5(LRSAM1):c.1504-5C>G http://identifiers.org/clinvar/365033 ^@ NM_138361.5(LRSAM1):c.1912+5A>C http://identifiers.org/clinvar/359879 ^@ NM_018947.5(CYCS):c.*4038G>C http://identifiers.org/clinvar/359880 ^@ NM_018947.5(CYCS):c.*4012G>A http://identifiers.org/clinvar/359881 ^@ NM_018947.5(CYCS):c.*3972C>T http://identifiers.org/clinvar/365035 ^@ NM_138361.5(LRSAM1):c.*57G>A http://identifiers.org/clinvar/365036 ^@ NM_138361.5(LRSAM1):c.*105delC http://identifiers.org/clinvar/365037 ^@ NM_138361.5(LRSAM1):c.*238G>A http://identifiers.org/clinvar/365038 ^@ NM_138361.5(LRSAM1):c.*350C>A http://identifiers.org/clinvar/300757 ^@ NM_002658.4(PLAU):c.878G>A (p.Arg293Gln) http://identifiers.org/clinvar/365041 ^@ NM_138361.5(LRSAM1):c.*590T>C http://identifiers.org/clinvar/359882 ^@ NM_018947.5(CYCS):c.*3826C>T http://identifiers.org/clinvar/300760 ^@ NM_002658.4(PLAU):c.1092C>T (p.Asp364=) http://identifiers.org/clinvar/300768 ^@ NM_002658.4(PLAU):c.*335G>A http://identifiers.org/clinvar/300778 ^@ NM_002658.4(PLAU):c.*900A>G http://identifiers.org/clinvar/365042 ^@ NM_138361.5(LRSAM1):c.*597T>G http://identifiers.org/clinvar/365047 ^@ NM_003165.3(STXBP1):c.-91C>G http://identifiers.org/clinvar/360176 ^@ NM_000168.5(GLI3):c.*2146_*2150delGACCT http://identifiers.org/clinvar/300781 ^@ NM_014000.2(VCL):c.155G>C (p.Ser52Thr) http://identifiers.org/clinvar/359886 ^@ NM_018947.5(CYCS):c.*3610delA http://identifiers.org/clinvar/300784 ^@ NM_014000.2(VCL):c.789T>C (p.Thr263=) http://identifiers.org/clinvar/300785 ^@ NM_014000.2(VCL):c.901C>T (p.Gln301Ter) http://identifiers.org/clinvar/300790 ^@ NM_014000.2(VCL):c.1613G>A (p.Arg538Gln) http://identifiers.org/clinvar/359894 ^@ NM_018947.5(CYCS):c.*3142C>A http://identifiers.org/clinvar/359897 ^@ NM_018947.5(CYCS):c.*2838C>G http://identifiers.org/clinvar/359916 ^@ NM_018947.5(CYCS):c.*2025G>A http://identifiers.org/clinvar/300797 ^@ NM_014000.2(VCL):c.2807C>T (p.Ala936Val) http://identifiers.org/clinvar/300799 ^@ NM_014000.2(VCL):c.*145delA http://identifiers.org/clinvar/359917 ^@ NM_018947.5(CYCS):c.*1880C>T http://identifiers.org/clinvar/359918 ^@ NM_018947.5(CYCS):c.*1864C>G http://identifiers.org/clinvar/359920 ^@ NM_018947.5(CYCS):c.*1783G>A http://identifiers.org/clinvar/359941 ^@ NM_018947.5(CYCS):c.-148G>A http://identifiers.org/clinvar/365050 ^@ NM_003165.3(STXBP1):c.708C>T (p.Gly236=) http://identifiers.org/clinvar/359959 ^@ NM_005522.4(HOXA1):c.552C>A (p.His184Gln) http://identifiers.org/clinvar/300809 ^@ NM_014000.2(VCL):c.*1143A>G http://identifiers.org/clinvar/365053 ^@ NM_003165.3(STXBP1):c.*17-11G>A http://identifiers.org/clinvar/300811 ^@ NM_014000.2(VCL):c.*1282C>T http://identifiers.org/clinvar/360180 ^@ NM_000168.5(GLI3):c.*1858C>T http://identifiers.org/clinvar/360183 ^@ NM_000168.5(GLI3):c.*1688C>G http://identifiers.org/clinvar/365055 ^@ NM_003165.3(STXBP1):c.*254C>T http://identifiers.org/clinvar/365061 ^@ NM_003165.3(STXBP1):c.*911_*914delTAGT http://identifiers.org/clinvar/359963 ^@ NM_005522.4(HOXA1):c.435C>T (p.His145=) http://identifiers.org/clinvar/359975 ^@ NM_006735.3(HOXA2):c.*210A>T http://identifiers.org/clinvar/300824 ^@ NM_014000.2(VCL):c.*1861_*1862dupAA http://identifiers.org/clinvar/365062 ^@ NM_003165.3(STXBP1):c.*941G>T http://identifiers.org/clinvar/300829 ^@ NM_014000.2(VCL):c.*1891G>A http://identifiers.org/clinvar/300831 ^@ NM_001123.3(ADK):c.-215T>C http://identifiers.org/clinvar/360185 ^@ NM_000168.5(GLI3):c.*1471C>T http://identifiers.org/clinvar/300832 ^@ NM_001123.3(ADK):c.-192G>C http://identifiers.org/clinvar/300835 ^@ NM_001123.3(ADK):c.-20C>T http://identifiers.org/clinvar/365064 ^@ NM_003165.3(STXBP1):c.*1073G>A http://identifiers.org/clinvar/365070 ^@ NM_003165.3(STXBP1):c.*1543T>G http://identifiers.org/clinvar/300838 ^@ NM_001123.3(ADK):c.390C>T (p.Asp130=) http://identifiers.org/clinvar/365073 ^@ NM_003165.3(STXBP1):c.*1640C>T http://identifiers.org/clinvar/365080 ^@ NM_000118.3(ENG):c.*501G>A http://identifiers.org/clinvar/365081 ^@ NM_000118.3(ENG):c.*487C>A http://identifiers.org/clinvar/300839 ^@ NM_001123.3(ADK):c.654T>C (p.Asp218=) http://identifiers.org/clinvar/300840 ^@ NM_001123.3(ADK):c.675+11T>G http://identifiers.org/clinvar/359976 ^@ NM_006735.3(HOXA2):c.*166A>G http://identifiers.org/clinvar/359983 ^@ NM_006735.3(HOXA2):c.389A>G (p.Lys130Arg) http://identifiers.org/clinvar/359990 ^@ NM_002047.3(GARS):c.-317G>A http://identifiers.org/clinvar/300842 ^@ NM_001123.3(ADK):c.712-9T>C http://identifiers.org/clinvar/300848 ^@ NM_001123.3(ADK):c.*740C>T http://identifiers.org/clinvar/360186 ^@ NM_000168.5(GLI3):c.*1464A>G http://identifiers.org/clinvar/300849 ^@ NM_012330.3(KAT6B):c.-617G>A http://identifiers.org/clinvar/365088 ^@ NM_000118.3(ENG):c.1316A>C (p.Lys439Thr) http://identifiers.org/clinvar/360190 ^@ NM_000168.5(GLI3):c.*1297G>A http://identifiers.org/clinvar/365094 ^@ NM_000118.3(ENG):c.322C>T (p.His108Tyr) http://identifiers.org/clinvar/300859 ^@ NM_012330.3(KAT6B):c.1025T>C (p.Ile342Thr) http://identifiers.org/clinvar/300867 ^@ NM_012330.3(KAT6B):c.1663G>A (p.Gly555Arg) http://identifiers.org/clinvar/365105 ^@ NM_000118.3(ENG):c.-289A>C http://identifiers.org/clinvar/365107 ^@ NM_000118.3(ENG):c.-339C>T http://identifiers.org/clinvar/365109 ^@ NM_000118.3(ENG):c.-395C>A http://identifiers.org/clinvar/360200 ^@ NM_000168.5(GLI3):c.*943G>A http://identifiers.org/clinvar/365111 ^@ NM_003863.3(DPM2):c.*553G>A http://identifiers.org/clinvar/360207 ^@ NM_000168.5(GLI3):c.*589T>C http://identifiers.org/clinvar/360210 ^@ NM_000168.5(GLI3):c.*266_*267insA http://identifiers.org/clinvar/359991 ^@ NM_002047.3(GARS):c.-237A>C http://identifiers.org/clinvar/300874 ^@ NM_012330.3(KAT6B):c.3231C>A (p.Asp1077Glu) http://identifiers.org/clinvar/365114 ^@ NM_003863.3(DPM2):c.88C>G (p.Leu30Val) http://identifiers.org/clinvar/300878 ^@ NM_012330.3(KAT6B):c.3289G>A (p.Glu1097Lys) http://identifiers.org/clinvar/365117 ^@ NM_003863.3(DPM2):c.-141G>A http://identifiers.org/clinvar/365123 ^@ NM_003863.3(DPM2):c.-587C>T http://identifiers.org/clinvar/365126 ^@ NM_001003722.1(GLE1):c.-108C>A http://identifiers.org/clinvar/300879 ^@ NM_012330.3(KAT6B):c.3404G>A (p.Arg1135His) http://identifiers.org/clinvar/359996 ^@ NM_002047.3(GARS):c.-177T>C http://identifiers.org/clinvar/360005 ^@ NM_002047.3(GARS):c.764C>T (p.Ala255Val) http://identifiers.org/clinvar/360007 ^@ NM_002047.3(GARS):c.766G>C (p.Asp256His) http://identifiers.org/clinvar/300883 ^@ NM_012330.3(KAT6B):c.3718G>A (p.Glu1240Lys) http://identifiers.org/clinvar/365134 ^@ NM_001003722.1(GLE1):c.749C>T (p.Ala250Val) http://identifiers.org/clinvar/360008 ^@ NM_002047.3(GARS):c.882-15T>G http://identifiers.org/clinvar/360010 ^@ NM_002047.3(GARS):c.1059C>G (p.His353Gln) http://identifiers.org/clinvar/360012 ^@ NM_002047.3(GARS):c.1163G>A (p.Arg388Gln) http://identifiers.org/clinvar/300884 ^@ NM_012330.3(KAT6B):c.3728A>G (p.Lys1243Arg) http://identifiers.org/clinvar/360014 ^@ NM_002047.3(GARS):c.1478A>G (p.Asn493Ser) http://identifiers.org/clinvar/360019 ^@ NM_002047.3(GARS):c.2212G>A (p.Glu738Lys) http://identifiers.org/clinvar/360020 ^@ NM_002047.3(GARS):c.*36delT http://identifiers.org/clinvar/360022 ^@ NM_002047.3(GARS):c.*50_*51delAA http://identifiers.org/clinvar/300888 ^@ NM_012330.3(KAT6B):c.4080A>G (p.Glu1360=) http://identifiers.org/clinvar/360021 ^@ NM_002047.3(GARS):c.*51delA http://identifiers.org/clinvar/360029 ^@ NM_000823.3(GHRHR):c.208T>G (p.Ser70Ala) http://identifiers.org/clinvar/365135 ^@ NM_001003722.1(GLE1):c.2028+15G>A http://identifiers.org/clinvar/300890 ^@ NM_012330.3(KAT6B):c.4407G>A (p.Ser1469=) http://identifiers.org/clinvar/360032 ^@ NM_000823.3(GHRHR):c.640A>G (p.Met214Val) http://identifiers.org/clinvar/360211 ^@ NM_000168.5(GLI3):c.*265dupA http://identifiers.org/clinvar/300892 ^@ NM_012330.3(KAT6B):c.4834C>T (p.Arg1612Cys) http://identifiers.org/clinvar/365142 ^@ NM_001003722.1(GLE1):c.*640C>T http://identifiers.org/clinvar/365148 ^@ NM_001130438.2(SPTAN1):c.-139A>G http://identifiers.org/clinvar/360033 ^@ NM_000823.3(GHRHR):c.812C>T (p.Ala271Val) http://identifiers.org/clinvar/300893 ^@ NM_012330.3(KAT6B):c.4835G>A (p.Arg1612His) http://identifiers.org/clinvar/360036 ^@ NM_000823.3(GHRHR):c.914G>A (p.Arg305His) http://identifiers.org/clinvar/300895 ^@ NM_012330.3(KAT6B):c.5385C>T (p.Tyr1795=) http://identifiers.org/clinvar/360218 ^@ NM_000168.5(GLI3):c.*136T>A http://identifiers.org/clinvar/360219 ^@ NM_000168.5(GLI3):c.*66G>T http://identifiers.org/clinvar/360221 ^@ NM_000168.5(GLI3):c.4533C>T (p.Asp1511=) http://identifiers.org/clinvar/300911 ^@ NM_012330.3(KAT6B):c.*643delA http://identifiers.org/clinvar/300912 ^@ NM_012330.3(KAT6B):c.*698A>C http://identifiers.org/clinvar/360225 ^@ NM_000168.5(GLI3):c.4296G>A (p.Leu1432=) http://identifiers.org/clinvar/300916 ^@ NM_012330.3(KAT6B):c.*1196A>C http://identifiers.org/clinvar/360234 ^@ NM_000168.5(GLI3):c.2960A>G (p.Tyr987Cys) http://identifiers.org/clinvar/360041 ^@ NM_000823.3(GHRHR):c.*221T>C http://identifiers.org/clinvar/300915 ^@ NM_012330.3(KAT6B):c.*1200_*1203delAAAA http://identifiers.org/clinvar/300914 ^@ NM_012330.3(KAT6B):c.*1203dupA http://identifiers.org/clinvar/365154 ^@ NM_001130438.2(SPTAN1):c.-12C>A http://identifiers.org/clinvar/360044 ^@ NM_203288.1(RP9):c.*75C>T http://identifiers.org/clinvar/360045 ^@ NM_203288.1(RP9):c.314-9C>T http://identifiers.org/clinvar/365161 ^@ NM_001130438.2(SPTAN1):c.2719C>T (p.Arg907Trp) http://identifiers.org/clinvar/360235 ^@ NM_000168.5(GLI3):c.2741delG (p.Gly914Alafs) http://identifiers.org/clinvar/365165 ^@ NM_001130438.2(SPTAN1):c.3786A>G (p.Gly1262=) http://identifiers.org/clinvar/300918 ^@ NM_012330.3(KAT6B):c.*1312C>T http://identifiers.org/clinvar/365167 ^@ NM_001130438.2(SPTAN1):c.4047-14G>T http://identifiers.org/clinvar/365171 ^@ NM_001130438.2(SPTAN1):c.5013G>A (p.Gly1671=) http://identifiers.org/clinvar/360048 ^@ NM_198428.2(BBS9):c.-447A>C http://identifiers.org/clinvar/365177 ^@ NM_001130438.2(SPTAN1):c.6654C>T (p.His2218=) http://identifiers.org/clinvar/365181 ^@ NM_001130438.2(SPTAN1):c.7160+10_7160+13delTTAA http://identifiers.org/clinvar/360058 ^@ NM_198428.2(BBS9):c.-37dupG http://identifiers.org/clinvar/360060 ^@ NM_198428.2(BBS9):c.272A>T (p.Glu91Val) http://identifiers.org/clinvar/365187 ^@ NM_001130438.2(SPTAN1):c.*149G>A http://identifiers.org/clinvar/360239 ^@ NM_000168.5(GLI3):c.2083G>A (p.Val695Ile) http://identifiers.org/clinvar/300919 ^@ NM_012330.3(KAT6B):c.*1459C>T http://identifiers.org/clinvar/360243 ^@ NM_000168.5(GLI3):c.1800G>A (p.Thr600=) http://identifiers.org/clinvar/360066 ^@ NM_198428.2(BBS9):c.1923C>A (p.Pro641=) http://identifiers.org/clinvar/300931 ^@ NM_002247.3(KCNMA1):c.*1765T>C http://identifiers.org/clinvar/365198 ^@ NM_014908.3(DOLK):c.219C>G (p.Phe73Leu) http://identifiers.org/clinvar/300932 ^@ NM_002247.3(KCNMA1):c.*1739G>T http://identifiers.org/clinvar/300937 ^@ NM_002247.3(KCNMA1):c.*1202C>A http://identifiers.org/clinvar/300939 ^@ NM_002247.3(KCNMA1):c.*1100C>T http://identifiers.org/clinvar/360248 ^@ NM_000168.5(GLI3):c.961C>T (p.Leu321Phe) http://identifiers.org/clinvar/360249 ^@ NM_000168.5(GLI3):c.827-6T>C http://identifiers.org/clinvar/365199 ^@ NM_014908.3(DOLK):c.-49A>G http://identifiers.org/clinvar/365221 ^@ NM_000113.2(TOR1A):c.*423delT http://identifiers.org/clinvar/360253 ^@ NM_000168.5(GLI3):c.641C>T (p.Ser214Phe) http://identifiers.org/clinvar/300940 ^@ NM_002247.3(KCNMA1):c.*1026_*1029delTTTG http://identifiers.org/clinvar/360254 ^@ NM_000168.5(GLI3):c.501G>A (p.Thr167=) http://identifiers.org/clinvar/360257 ^@ NM_000168.5(GLI3):c.411T>C (p.Ile137=) http://identifiers.org/clinvar/365226 ^@ NM_000113.2(TOR1A):c.*345C>T http://identifiers.org/clinvar/300946 ^@ NM_002247.3(KCNMA1):c.*634C>G http://identifiers.org/clinvar/365228 ^@ NM_000113.2(TOR1A):c.*214C>G http://identifiers.org/clinvar/300947 ^@ NM_002247.3(KCNMA1):c.*570T>C http://identifiers.org/clinvar/300948 ^@ NM_002247.3(KCNMA1):c.*539T>C http://identifiers.org/clinvar/300963 ^@ NM_002247.3(KCNMA1):c.1563C>A (p.Ile521=) http://identifiers.org/clinvar/360258 ^@ NM_000168.5(GLI3):c.367C>T (p.His123Tyr) http://identifiers.org/clinvar/360262 ^@ NM_000168.5(GLI3):c.99C>T (p.Ala33=) http://identifiers.org/clinvar/365231 ^@ NM_000113.2(TOR1A):c.*149G>A http://identifiers.org/clinvar/300964 ^@ NM_002247.3(KCNMA1):c.1486G>A (p.Ala496Thr) http://identifiers.org/clinvar/365245 ^@ NM_054012.3(ASS1):c.-185A>G http://identifiers.org/clinvar/300973 ^@ NM_002247.3(KCNMA1):c.34_36delAGC (p.Ser12del) http://identifiers.org/clinvar/365249 ^@ NM_054012.3(ASS1):c.-101C>G http://identifiers.org/clinvar/365251 ^@ NM_054012.3(ASS1):c.240C>T (p.Ser80=) http://identifiers.org/clinvar/360265 ^@ NM_000168.5(GLI3):c.-47C>T http://identifiers.org/clinvar/360272 ^@ NM_000290.3(PGAM2):c.459C>T (p.Cys153=) http://identifiers.org/clinvar/300977 ^@ NM_002247.3(KCNMA1):c.-57G>T http://identifiers.org/clinvar/360276 ^@ NM_000290.3(PGAM2):c.341T>G (p.Ile114Ser) http://identifiers.org/clinvar/360281 ^@ NM_000290.3(PGAM2):c.-55A>C http://identifiers.org/clinvar/360282 ^@ NM_000162.3(GCK):c.*847G>A http://identifiers.org/clinvar/360283 ^@ NM_000162.3(GCK):c.*844A>C http://identifiers.org/clinvar/300980 ^@ NM_002247.3(KCNMA1):c.-101_-99dupGGC http://identifiers.org/clinvar/360284 ^@ NM_000162.3(GCK):c.*797C>T http://identifiers.org/clinvar/360292 ^@ NM_000162.3(GCK):c.*510C>T http://identifiers.org/clinvar/300997 ^@ NM_007055.3(POLR3A):c.*1782G>A http://identifiers.org/clinvar/360073 ^@ NM_198428.2(BBS9):c.*29A>G http://identifiers.org/clinvar/360303 ^@ NM_014855.2(AP5Z1):c.-68G>T http://identifiers.org/clinvar/360078 ^@ NM_198428.2(BBS9):c.*371G>A http://identifiers.org/clinvar/360307 ^@ NM_014855.2(AP5Z1):c.366+5C>T http://identifiers.org/clinvar/301005 ^@ NM_007055.3(POLR3A):c.*1569C>T http://identifiers.org/clinvar/301016 ^@ NM_007055.3(POLR3A):c.*989G>A http://identifiers.org/clinvar/360082 ^@ NM_198428.2(BBS9):c.*589G>A http://identifiers.org/clinvar/360083 ^@ NM_198428.2(BBS9):c.*778_*780dupAAT http://identifiers.org/clinvar/301017 ^@ NM_007055.3(POLR3A):c.*936T>G http://identifiers.org/clinvar/301028 ^@ NM_007055.3(POLR3A):c.*272G>C http://identifiers.org/clinvar/301031 ^@ NM_007055.3(POLR3A):c.*135G>T http://identifiers.org/clinvar/360085 ^@ NM_133468.4(BMPER):c.-313G>C http://identifiers.org/clinvar/360088 ^@ NM_133468.4(BMPER):c.-211G>A http://identifiers.org/clinvar/360090 ^@ NM_133468.4(BMPER):c.-190C>T http://identifiers.org/clinvar/301036 ^@ NM_007055.3(POLR3A):c.3858C>T (p.His1286=) http://identifiers.org/clinvar/360091 ^@ NM_133468.4(BMPER):c.-160G>A http://identifiers.org/clinvar/301039 ^@ NM_007055.3(POLR3A):c.3697C>A (p.Arg1233=) http://identifiers.org/clinvar/301049 ^@ NM_007055.3(POLR3A):c.3036A>G (p.Glu1012=) http://identifiers.org/clinvar/360315 ^@ NM_014855.2(AP5Z1):c.592G>A (p.Gly198Ser) http://identifiers.org/clinvar/360102 ^@ NM_133468.4(BMPER):c.474G>A (p.Met158Ile) http://identifiers.org/clinvar/360111 ^@ NM_133468.4(BMPER):c.1460C>T (p.Pro487Leu) http://identifiers.org/clinvar/360317 ^@ NM_014855.2(AP5Z1):c.724G>C (p.Ala242Pro) http://identifiers.org/clinvar/360113 ^@ NM_133468.4(BMPER):c.1663C>T (p.Arg555Trp) http://identifiers.org/clinvar/360119 ^@ NM_133468.4(BMPER):c.1978G>A (p.Val660Ile) http://identifiers.org/clinvar/360126 ^@ NM_133468.4(BMPER):c.*522G>A http://identifiers.org/clinvar/360128 ^@ NM_133468.4(BMPER):c.*609G>A http://identifiers.org/clinvar/365254 ^@ NM_054012.3(ASS1):c.420+13T>G http://identifiers.org/clinvar/301051 ^@ NM_007055.3(POLR3A):c.2976C>T (p.Asn992=) http://identifiers.org/clinvar/360322 ^@ NM_014855.2(AP5Z1):c.970-13C>T http://identifiers.org/clinvar/301052 ^@ NM_007055.3(POLR3A):c.2898G>A (p.Leu966=) http://identifiers.org/clinvar/301057 ^@ NM_007055.3(POLR3A):c.2433C>T (p.Asp811=) http://identifiers.org/clinvar/301060 ^@ NM_007055.3(POLR3A):c.2100C>T (p.Ile700=) http://identifiers.org/clinvar/360323 ^@ NM_014855.2(AP5Z1):c.1119C>T (p.Phe373=) http://identifiers.org/clinvar/360325 ^@ NM_014855.2(AP5Z1):c.1315C>T (p.Leu439=) http://identifiers.org/clinvar/360329 ^@ NM_014855.2(AP5Z1):c.1369C>T (p.Leu457=) http://identifiers.org/clinvar/365258 ^@ NM_054012.3(ASS1):c.846C>T (p.Tyr282=) http://identifiers.org/clinvar/365268 ^@ NM_054012.3(ASS1):c.*223A>T http://identifiers.org/clinvar/360332 ^@ NM_014855.2(AP5Z1):c.1557A>G (p.Gln519=) http://identifiers.org/clinvar/360334 ^@ NM_014855.2(AP5Z1):c.1708-14C>T http://identifiers.org/clinvar/360133 ^@ NM_133468.4(BMPER):c.*704A>G http://identifiers.org/clinvar/360135 ^@ NM_133468.4(BMPER):c.*1067C>T http://identifiers.org/clinvar/360137 ^@ NM_133468.4(BMPER):c.*1163C>T http://identifiers.org/clinvar/360335 ^@ NM_014855.2(AP5Z1):c.1708-5C>T http://identifiers.org/clinvar/360341 ^@ NM_014855.2(AP5Z1):c.1939-9C>T http://identifiers.org/clinvar/360343 ^@ NM_014855.2(AP5Z1):c.1964C>T (p.Ser655Leu) http://identifiers.org/clinvar/365270 ^@ NM_007171.3(POMT1):c.-195C>T http://identifiers.org/clinvar/301061 ^@ NM_007055.3(POLR3A):c.2074+9C>G http://identifiers.org/clinvar/301071 ^@ NM_007055.3(POLR3A):c.1642+9G>C http://identifiers.org/clinvar/365279 ^@ NM_007171.3(POMT1):c.1527C>T (p.Asn509=) http://identifiers.org/clinvar/365281 ^@ NM_007171.3(POMT1):c.1831G>A (p.Ala611Thr) http://identifiers.org/clinvar/365287 ^@ NM_007171.3(POMT1):c.*105G>A http://identifiers.org/clinvar/301074 ^@ NM_007055.3(POLR3A):c.1369G>A (p.Gly457Arg) http://identifiers.org/clinvar/301079 ^@ NM_007055.3(POLR3A):c.701A>T (p.Asp234Val) http://identifiers.org/clinvar/360347 ^@ NM_014855.2(AP5Z1):c.*92G>A http://identifiers.org/clinvar/360348 ^@ NM_014855.2(AP5Z1):c.*152G>T http://identifiers.org/clinvar/365291 ^@ NM_007171.3(POMT1):c.*285A>G http://identifiers.org/clinvar/360349 ^@ NM_014855.2(AP5Z1):c.*189G>A http://identifiers.org/clinvar/301081 ^@ NM_007055.3(POLR3A):c.481G>A (p.Ala161Thr) http://identifiers.org/clinvar/301085 ^@ NM_007055.3(POLR3A):c.156A>G (p.Leu52=) http://identifiers.org/clinvar/360353 ^@ NM_014855.2(AP5Z1):c.*378T>C http://identifiers.org/clinvar/365292 ^@ NM_007171.3(POMT1):c.*338T>G http://identifiers.org/clinvar/360138 ^@ NM_133468.4(BMPER):c.*1217A>G http://identifiers.org/clinvar/360356 ^@ NM_014855.2(AP5Z1):c.*537G>A http://identifiers.org/clinvar/360143 ^@ NM_133468.4(BMPER):c.*1482_*1483delTT http://identifiers.org/clinvar/301086 ^@ NM_007055.3(POLR3A):c.-103T>A http://identifiers.org/clinvar/301089 ^@ NM_033022.3(RPS24):c.-50G>A http://identifiers.org/clinvar/360145 ^@ NM_133468.4(BMPER):c.*1554A>C http://identifiers.org/clinvar/360151 ^@ NM_133468.4(BMPER):c.*2100C>A http://identifiers.org/clinvar/365293 ^@ NM_007171.3(POMT1):c.*348C>T http://identifiers.org/clinvar/365296 ^@ NM_007171.3(POMT1):c.*529G>A http://identifiers.org/clinvar/360157 ^@ NM_000168.5(GLI3):c.*3309C>A http://identifiers.org/clinvar/360158 ^@ NM_000168.5(GLI3):c.*3262A>G http://identifiers.org/clinvar/365300 ^@ NM_015046.5(SETX):c.*2753G>A http://identifiers.org/clinvar/360161 ^@ NM_000168.5(GLI3):c.*3004G>A http://identifiers.org/clinvar/360372 ^@ NM_014855.2(AP5Z1):c.*1039G>C http://identifiers.org/clinvar/365312 ^@ NM_015046.5(SETX):c.*1534G>A http://identifiers.org/clinvar/360376 ^@ NM_014855.2(AP5Z1):c.*1182C>T http://identifiers.org/clinvar/360164 ^@ NM_000168.5(GLI3):c.*2676C>T http://identifiers.org/clinvar/301097 ^@ NM_033022.3(RPS24):c.391-3C>A http://identifiers.org/clinvar/301154 ^@ NM_000429.2(MAT1A):c.*1382G>A http://identifiers.org/clinvar/360377 ^@ NM_014855.2(AP5Z1):c.*1203G>A http://identifiers.org/clinvar/360380 ^@ NM_014855.2(AP5Z1):c.*1355G>A http://identifiers.org/clinvar/360165 ^@ NM_000168.5(GLI3):c.*2666G>A http://identifiers.org/clinvar/301164 ^@ NM_000429.2(MAT1A):c.*995delC http://identifiers.org/clinvar/360166 ^@ NM_000168.5(GLI3):c.*2620C>G http://identifiers.org/clinvar/360169 ^@ NM_000168.5(GLI3):c.*2419T>C http://identifiers.org/clinvar/360174 ^@ NM_000168.5(GLI3):c.*2257A>T http://identifiers.org/clinvar/360175 ^@ NM_000168.5(GLI3):c.*2216T>C http://identifiers.org/clinvar/301169 ^@ NM_000429.2(MAT1A):c.*747C>T http://identifiers.org/clinvar/360188 ^@ NM_000168.5(GLI3):c.*1386A>G http://identifiers.org/clinvar/360194 ^@ NM_000168.5(GLI3):c.*1087A>T http://identifiers.org/clinvar/360196 ^@ NM_000168.5(GLI3):c.*1042dupT http://identifiers.org/clinvar/360199 ^@ NM_000168.5(GLI3):c.*974T>A http://identifiers.org/clinvar/360202 ^@ NM_000168.5(GLI3):c.*847C>A http://identifiers.org/clinvar/360203 ^@ NM_000168.5(GLI3):c.*835G>A http://identifiers.org/clinvar/301171 ^@ NM_000429.2(MAT1A):c.*730C>T http://identifiers.org/clinvar/301180 ^@ NM_000429.2(MAT1A):c.*149T>C http://identifiers.org/clinvar/360205 ^@ NM_000168.5(GLI3):c.*726A>G http://identifiers.org/clinvar/365323 ^@ NM_015046.5(SETX):c.*905A>G http://identifiers.org/clinvar/360208 ^@ NM_000168.5(GLI3):c.*512C>T http://identifiers.org/clinvar/360382 ^@ NM_014855.2(AP5Z1):c.*1480T>G http://identifiers.org/clinvar/301195 ^@ NM_000429.2(MAT1A):c.-71_-66dupAAAAAA http://identifiers.org/clinvar/360214 ^@ NM_000168.5(GLI3):c.*248dupT http://identifiers.org/clinvar/360217 ^@ NM_000168.5(GLI3):c.*165A>G http://identifiers.org/clinvar/360223 ^@ NM_000168.5(GLI3):c.4510A>C (p.Ile1504Leu) http://identifiers.org/clinvar/360229 ^@ NM_000168.5(GLI3):c.3598C>G (p.His1200Asp) http://identifiers.org/clinvar/301197 ^@ NM_000429.2(MAT1A):c.-72A>G http://identifiers.org/clinvar/360237 ^@ NM_000168.5(GLI3):c.2493C>A (p.Ser831Arg) http://identifiers.org/clinvar/360241 ^@ NM_000168.5(GLI3):c.1845T>C (p.Thr615=) http://identifiers.org/clinvar/360242 ^@ NM_000168.5(GLI3):c.1843A>T (p.Thr615Ser) http://identifiers.org/clinvar/360252 ^@ NM_000168.5(GLI3):c.681G>A (p.Ala227=) http://identifiers.org/clinvar/360255 ^@ NM_000168.5(GLI3):c.474-4C>T http://identifiers.org/clinvar/360259 ^@ NM_000168.5(GLI3):c.353T>C (p.Met118Thr) http://identifiers.org/clinvar/360260 ^@ NM_000168.5(GLI3):c.341G>A (p.Arg114Lys) http://identifiers.org/clinvar/360263 ^@ NM_000168.5(GLI3):c.-3A>G http://identifiers.org/clinvar/360264 ^@ NM_000168.5(GLI3):c.-42-11G>C http://identifiers.org/clinvar/360383 ^@ NM_014855.2(AP5Z1):c.*1505C>T http://identifiers.org/clinvar/360385 ^@ NM_014855.2(AP5Z1):c.*1562C>T http://identifiers.org/clinvar/301199 ^@ NM_000429.2(MAT1A):c.-78_-73dupGAAGAA http://identifiers.org/clinvar/360397 ^@ NM_014855.2(AP5Z1):c.*2093A>G http://identifiers.org/clinvar/360266 ^@ NM_000168.5(GLI3):c.-68G>A http://identifiers.org/clinvar/360269 ^@ NM_000290.3(PGAM2):c.*35A>G http://identifiers.org/clinvar/360275 ^@ NM_000290.3(PGAM2):c.366G>A (p.Pro122=) http://identifiers.org/clinvar/360398 ^@ NM_014855.2(AP5Z1):c.*2109G>A http://identifiers.org/clinvar/301100 ^@ NM_001002295.1(GATA3):c.-503_-502dupAA http://identifiers.org/clinvar/360278 ^@ NM_000290.3(PGAM2):c.244G>T (p.Val82Leu) http://identifiers.org/clinvar/360279 ^@ NM_000290.3(PGAM2):c.148A>C (p.Met50Leu) http://identifiers.org/clinvar/360288 ^@ NM_000162.3(GCK):c.*723A>G http://identifiers.org/clinvar/360289 ^@ NM_000162.3(GCK):c.*721C>T http://identifiers.org/clinvar/301104 ^@ NM_001002295.1(GATA3):c.-369-11C>T http://identifiers.org/clinvar/301107 ^@ NM_001002295.1(GATA3):c.-287G>A http://identifiers.org/clinvar/360290 ^@ NM_000162.3(GCK):c.*678G>T http://identifiers.org/clinvar/360399 ^@ NM_014855.2(AP5Z1):c.*2153G>A http://identifiers.org/clinvar/365325 ^@ NM_015046.5(SETX):c.*849G>T http://identifiers.org/clinvar/360401 ^@ NM_014855.2(AP5Z1):c.*2198G>C http://identifiers.org/clinvar/360297 ^@ NM_000162.3(GCK):c.*270C>T http://identifiers.org/clinvar/360402 ^@ NM_014855.2(AP5Z1):c.*2243C>T http://identifiers.org/clinvar/360300 ^@ NM_000162.3(GCK):c.363+10G>C http://identifiers.org/clinvar/360305 ^@ NM_014855.2(AP5Z1):c.259G>A (p.Ala87Thr) http://identifiers.org/clinvar/365337 ^@ NM_015046.5(SETX):c.7874C>T (p.Pro2625Leu) http://identifiers.org/clinvar/301110 ^@ NM_001002295.1(GATA3):c.-148A>G http://identifiers.org/clinvar/365342 ^@ NM_015046.5(SETX):c.7724C>T (p.Pro2575Leu) http://identifiers.org/clinvar/301115 ^@ NM_001002295.1(GATA3):c.-49C>T http://identifiers.org/clinvar/360311 ^@ NM_014855.2(AP5Z1):c.511+5G>A http://identifiers.org/clinvar/360314 ^@ NM_014855.2(AP5Z1):c.585C>G (p.His195Gln) http://identifiers.org/clinvar/365345 ^@ NM_015046.5(SETX):c.7287+9C>A http://identifiers.org/clinvar/360318 ^@ NM_014855.2(AP5Z1):c.780C>A (p.Thr260=) http://identifiers.org/clinvar/365348 ^@ NM_015046.5(SETX):c.6675C>T (p.Tyr2225=) http://identifiers.org/clinvar/365354 ^@ NM_015046.5(SETX):c.4204A>T (p.Thr1402Ser) http://identifiers.org/clinvar/365355 ^@ NM_015046.5(SETX):c.4053A>G (p.Gln1351=) http://identifiers.org/clinvar/301118 ^@ NM_001002295.1(GATA3):c.72G>A (p.Pro24=) http://identifiers.org/clinvar/301121 ^@ NM_001002295.1(GATA3):c.480C>G (p.Asp160Glu) http://identifiers.org/clinvar/360406 ^@ NM_014855.2(AP5Z1):c.*2496G>A http://identifiers.org/clinvar/365358 ^@ NM_015046.5(SETX):c.3900C>T (p.Ser1300=) http://identifiers.org/clinvar/301124 ^@ NM_001002295.1(GATA3):c.706C>G (p.Pro236Ala) http://identifiers.org/clinvar/301127 ^@ NM_001002295.1(GATA3):c.1179C>T (p.Asn393=) http://identifiers.org/clinvar/360411 ^@ NM_014855.2(AP5Z1):c.*2623A>C http://identifiers.org/clinvar/301128 ^@ NM_001002295.1(GATA3):c.1223C>T (p.Ser408Leu) http://identifiers.org/clinvar/365361 ^@ NM_015046.5(SETX):c.3117A>G (p.Ile1039Met) http://identifiers.org/clinvar/365364 ^@ NM_015046.5(SETX):c.2672T>C (p.Val891Ala) http://identifiers.org/clinvar/365368 ^@ NM_015046.5(SETX):c.2003A>G (p.Asn668Ser) http://identifiers.org/clinvar/301132 ^@ NM_001002295.1(GATA3):c.*105A>G http://identifiers.org/clinvar/360319 ^@ NM_014855.2(AP5Z1):c.790+15G>A http://identifiers.org/clinvar/301134 ^@ NM_001002295.1(GATA3):c.*264_*265dupAA http://identifiers.org/clinvar/360414 ^@ NM_014855.2(AP5Z1):c.*2719C>A http://identifiers.org/clinvar/301137 ^@ NM_001002295.1(GATA3):c.*491A>G http://identifiers.org/clinvar/301138 ^@ NM_001002295.1(GATA3):c.*517A>G http://identifiers.org/clinvar/365377 ^@ NM_015046.5(SETX):c.389-9delT http://identifiers.org/clinvar/360425 ^@ NM_000790.3(DDC):c.*297T>C http://identifiers.org/clinvar/360427 ^@ NM_000790.3(DDC):c.*116T>G http://identifiers.org/clinvar/360432 ^@ NM_000790.3(DDC):c.1041+8G>A http://identifiers.org/clinvar/301148 ^@ NM_001002295.1(GATA3):c.*952G>A http://identifiers.org/clinvar/301149 ^@ NM_001002295.1(GATA3):c.*1029C>T http://identifiers.org/clinvar/301207 ^@ NM_033100.3(CDHR1):c.-33C>T http://identifiers.org/clinvar/360433 ^@ NM_000790.3(DDC):c.853C>T (p.Arg285Trp) http://identifiers.org/clinvar/360434 ^@ NM_000790.3(DDC):c.649A>G (p.Met217Val) http://identifiers.org/clinvar/365378 ^@ NM_015046.5(SETX):c.77C>G (p.Pro26Arg) http://identifiers.org/clinvar/365381 ^@ NM_015046.5(SETX):c.9A>G (p.Thr3=) http://identifiers.org/clinvar/360436 ^@ NM_000790.3(DDC):c.535A>C (p.Ile179Leu) http://identifiers.org/clinvar/360439 ^@ NM_000790.3(DDC):c.366C>T (p.Leu122=) http://identifiers.org/clinvar/301212 ^@ NM_033100.3(CDHR1):c.159C>A (p.His53Gln) http://identifiers.org/clinvar/360445 ^@ NM_000790.3(DDC):c.-36G>A http://identifiers.org/clinvar/301214 ^@ NM_033100.3(CDHR1):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/360321 ^@ NM_014855.2(AP5Z1):c.949G>T (p.Asp317Tyr) http://identifiers.org/clinvar/360327 ^@ NM_014855.2(AP5Z1):c.1341C>T (p.Thr447=) http://identifiers.org/clinvar/360328 ^@ NM_014855.2(AP5Z1):c.1357C>G (p.Leu453Val) http://identifiers.org/clinvar/360450 ^@ NM_005228.4(EGFR):c.-191A>C http://identifiers.org/clinvar/365384 ^@ NM_000368.4(TSC1):c.*4845G>T http://identifiers.org/clinvar/360453 ^@ NM_005228.4(EGFR):c.438C>G (p.Gly146=) http://identifiers.org/clinvar/301217 ^@ NM_033100.3(CDHR1):c.526-14C>A http://identifiers.org/clinvar/301218 ^@ NM_033100.3(CDHR1):c.542T>C (p.Phe181Ser) http://identifiers.org/clinvar/360455 ^@ NM_005228.4(EGFR):c.531G>A (p.Ser177=) http://identifiers.org/clinvar/360460 ^@ NM_005228.4(EGFR):c.1830C>T (p.Tyr610=) http://identifiers.org/clinvar/360330 ^@ NM_014855.2(AP5Z1):c.1377C>T (p.Asp459=) http://identifiers.org/clinvar/360331 ^@ NM_014855.2(AP5Z1):c.1473C>G (p.Ser491=) http://identifiers.org/clinvar/360473 ^@ NM_005228.4(EGFR):c.*78C>T http://identifiers.org/clinvar/360475 ^@ NM_005228.4(EGFR):c.*222G>A http://identifiers.org/clinvar/301220 ^@ NM_033100.3(CDHR1):c.601G>A (p.Glu201Lys) http://identifiers.org/clinvar/301223 ^@ NM_033100.3(CDHR1):c.739G>T (p.Val247Leu) http://identifiers.org/clinvar/360478 ^@ NM_005228.4(EGFR):c.*296T>C http://identifiers.org/clinvar/360479 ^@ NM_005228.4(EGFR):c.*334T>A http://identifiers.org/clinvar/360484 ^@ NM_005228.4(EGFR):c.*933C>T http://identifiers.org/clinvar/365389 ^@ NM_000368.4(TSC1):c.*4622G>A http://identifiers.org/clinvar/365393 ^@ NM_000368.4(TSC1):c.*4385G>T http://identifiers.org/clinvar/365395 ^@ NM_000368.4(TSC1):c.*4254G>A http://identifiers.org/clinvar/365399 ^@ NM_000368.4(TSC1):c.*4193A>C http://identifiers.org/clinvar/301230 ^@ NM_033100.3(CDHR1):c.964-10C>T http://identifiers.org/clinvar/365402 ^@ NM_000368.4(TSC1):c.*4128G>A http://identifiers.org/clinvar/360489 ^@ NM_005228.4(EGFR):c.*1655C>T http://identifiers.org/clinvar/360333 ^@ NM_014855.2(AP5Z1):c.1707+11T>C http://identifiers.org/clinvar/365415 ^@ NM_000368.4(TSC1):c.*3658G>A http://identifiers.org/clinvar/360494 ^@ NM_004577.3(PSPH):c.*490C>T http://identifiers.org/clinvar/360339 ^@ NM_014855.2(AP5Z1):c.1919C>T (p.Ala640Val) http://identifiers.org/clinvar/301232 ^@ NM_033100.3(CDHR1):c.1050G>A (p.Pro350=) http://identifiers.org/clinvar/301233 ^@ NM_033100.3(CDHR1):c.1071C>T (p.Ser357=) http://identifiers.org/clinvar/365419 ^@ NM_000368.4(TSC1):c.*3531G>T http://identifiers.org/clinvar/365422 ^@ NM_000368.4(TSC1):c.*3285G>T http://identifiers.org/clinvar/365426 ^@ NM_000368.4(TSC1):c.*3239G>T http://identifiers.org/clinvar/301235 ^@ NM_033100.3(CDHR1):c.1133G>A (p.Arg378Gln) http://identifiers.org/clinvar/365427 ^@ NM_000368.4(TSC1):c.*3238T>C http://identifiers.org/clinvar/301237 ^@ NM_033100.3(CDHR1):c.1320+11C>T http://identifiers.org/clinvar/365433 ^@ NM_000368.4(TSC1):c.*2893dupA http://identifiers.org/clinvar/301242 ^@ NM_033100.3(CDHR1):c.1470C>T (p.Ser490=) http://identifiers.org/clinvar/360340 ^@ NM_014855.2(AP5Z1):c.1936G>A (p.Val646Met) http://identifiers.org/clinvar/301248 ^@ NM_033100.3(CDHR1):c.1854C>T (p.Asn618=) http://identifiers.org/clinvar/301249 ^@ NM_033100.3(CDHR1):c.1867A>G (p.Asn623Asp) http://identifiers.org/clinvar/301252 ^@ NM_033100.3(CDHR1):c.2001C>T (p.Ser667=) http://identifiers.org/clinvar/360499 ^@ NM_004577.3(PSPH):c.*317G>A http://identifiers.org/clinvar/360501 ^@ NM_004577.3(PSPH):c.*309A>G http://identifiers.org/clinvar/360345 ^@ NM_014855.2(AP5Z1):c.*45A>G http://identifiers.org/clinvar/360354 ^@ NM_014855.2(AP5Z1):c.*432C>G http://identifiers.org/clinvar/301256 ^@ NM_033100.3(CDHR1):c.2184G>C (p.Lys728Asn) http://identifiers.org/clinvar/360504 ^@ NM_004577.3(PSPH):c.*11C>T http://identifiers.org/clinvar/360355 ^@ NM_014855.2(AP5Z1):c.*532G>A http://identifiers.org/clinvar/360358 ^@ NM_014855.2(AP5Z1):c.*665T>C http://identifiers.org/clinvar/301257 ^@ NM_033100.3(CDHR1):c.2292T>C (p.Ala764=) http://identifiers.org/clinvar/301260 ^@ NM_033100.3(CDHR1):c.2462A>G (p.Gln821Arg) http://identifiers.org/clinvar/360366 ^@ NM_014855.2(AP5Z1):c.*897G>A http://identifiers.org/clinvar/301262 ^@ NM_033100.3(CDHR1):c.*134C>T http://identifiers.org/clinvar/301270 ^@ NM_033100.3(CDHR1):c.*342C>G http://identifiers.org/clinvar/360511 ^@ NM_004577.3(PSPH):c.129G>A (p.Ala43=) http://identifiers.org/clinvar/301273 ^@ NM_033100.3(CDHR1):c.*511G>A http://identifiers.org/clinvar/301276 ^@ NM_033100.3(CDHR1):c.*631C>G http://identifiers.org/clinvar/365435 ^@ NM_000368.4(TSC1):c.*2872G>A http://identifiers.org/clinvar/301279 ^@ NM_033100.3(CDHR1):c.*878C>T http://identifiers.org/clinvar/301286 ^@ NM_033100.3(CDHR1):c.*1008A>G http://identifiers.org/clinvar/301295 ^@ NM_033100.3(CDHR1):c.*1487C>A http://identifiers.org/clinvar/360367 ^@ NM_014855.2(AP5Z1):c.*901C>T http://identifiers.org/clinvar/301297 ^@ NM_033100.3(CDHR1):c.*1694T>C http://identifiers.org/clinvar/301299 ^@ NM_033100.3(CDHR1):c.*1819C>T http://identifiers.org/clinvar/360518 ^@ NM_004577.3(PSPH):c.-19-8dupT http://identifiers.org/clinvar/360529 ^@ NM_004577.3(PSPH):c.-461A>G http://identifiers.org/clinvar/360531 ^@ NM_004577.3(PSPH):c.-519C>G http://identifiers.org/clinvar/365437 ^@ NM_000368.4(TSC1):c.*2733A>G http://identifiers.org/clinvar/301305 ^@ NM_033100.3(CDHR1):c.*2296G>C http://identifiers.org/clinvar/360533 ^@ NM_004577.3(PSPH):c.-681A>C http://identifiers.org/clinvar/301306 ^@ NM_033100.3(CDHR1):c.*2351G>A http://identifiers.org/clinvar/301309 ^@ NM_033100.3(CDHR1):c.*2493C>T http://identifiers.org/clinvar/301310 ^@ NM_033100.3(CDHR1):c.*2560C>T http://identifiers.org/clinvar/301312 ^@ NM_033100.3(CDHR1):c.*2588A>C http://identifiers.org/clinvar/360375 ^@ NM_014855.2(AP5Z1):c.*1136delG http://identifiers.org/clinvar/360378 ^@ NM_014855.2(AP5Z1):c.*1204C>G http://identifiers.org/clinvar/360387 ^@ NM_014855.2(AP5Z1):c.*1670G>C http://identifiers.org/clinvar/360396 ^@ NM_014855.2(AP5Z1):c.*1881A>T http://identifiers.org/clinvar/365439 ^@ NM_000368.4(TSC1):c.*2691A>T http://identifiers.org/clinvar/365446 ^@ NM_000368.4(TSC1):c.*2637C>G http://identifiers.org/clinvar/360536 ^@ NM_004577.3(PSPH):c.-708C>A http://identifiers.org/clinvar/301317 ^@ NM_001012720.1(RGR):c.229C>T (p.Leu77Phe) http://identifiers.org/clinvar/301320 ^@ NM_001012720.1(RGR):c.493G>T (p.Asp165Tyr) http://identifiers.org/clinvar/360408 ^@ NM_014855.2(AP5Z1):c.*2503G>A http://identifiers.org/clinvar/301323 ^@ NM_001012720.1(RGR):c.*65A>G http://identifiers.org/clinvar/360409 ^@ NM_014855.2(AP5Z1):c.*2574C>T http://identifiers.org/clinvar/301332 ^@ NM_001080116.1(LDB3):c.30C>G (p.Pro10=) http://identifiers.org/clinvar/301334 ^@ NM_001080116.1(LDB3):c.548+6C>A http://identifiers.org/clinvar/301338 ^@ NM_001080116.1(LDB3):c.*156C>T http://identifiers.org/clinvar/301353 ^@ NM_004329.2(BMPR1A):c.1498A>G (p.Met500Val) http://identifiers.org/clinvar/360413 ^@ NM_014855.2(AP5Z1):c.*2678T>C http://identifiers.org/clinvar/360417 ^@ NM_014855.2(AP5Z1):c.*2838A>G http://identifiers.org/clinvar/365448 ^@ NM_000368.4(TSC1):c.*2615C>A http://identifiers.org/clinvar/365449 ^@ NM_000368.4(TSC1):c.*2576T>C http://identifiers.org/clinvar/360419 ^@ NM_014855.2(AP5Z1):c.*2858G>C http://identifiers.org/clinvar/360421 ^@ NM_014855.2(AP5Z1):c.*2940C>T http://identifiers.org/clinvar/360429 ^@ NM_000790.3(DDC):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/360430 ^@ NM_000790.3(DDC):c.1190G>A (p.Arg397His) http://identifiers.org/clinvar/365451 ^@ NM_000368.4(TSC1):c.*2475C>A http://identifiers.org/clinvar/365455 ^@ NM_000368.4(TSC1):c.*2418G>A http://identifiers.org/clinvar/360431 ^@ NM_000790.3(DDC):c.1106A>G (p.Tyr369Cys) http://identifiers.org/clinvar/360446 ^@ NM_000790.3(DDC):c.-61_-58delAGAG http://identifiers.org/clinvar/360452 ^@ NM_005228.4(EGFR):c.16A>G (p.Thr6Ala) http://identifiers.org/clinvar/365458 ^@ NM_000368.4(TSC1):c.*2213C>A http://identifiers.org/clinvar/365462 ^@ NM_000368.4(TSC1):c.*2094G>A http://identifiers.org/clinvar/360464 ^@ NM_005228.4(EGFR):c.2047C>T (p.Leu683=) http://identifiers.org/clinvar/360466 ^@ NM_005228.4(EGFR):c.2138A>C (p.Lys713Thr) http://identifiers.org/clinvar/301358 ^@ NM_004329.2(BMPR1A):c.*321C>T http://identifiers.org/clinvar/360469 ^@ NM_005228.4(EGFR):c.3139G>A (p.Val1047Met) http://identifiers.org/clinvar/301359 ^@ NM_004329.2(BMPR1A):c.*422C>T http://identifiers.org/clinvar/360541 ^@ NM_000535.6(PMS2):c.1949C>T (p.Ala650Val) http://identifiers.org/clinvar/360554 ^@ NM_000181.3(GUSB):c.211-8C>G http://identifiers.org/clinvar/365463 ^@ NM_000368.4(TSC1):c.*2022G>T http://identifiers.org/clinvar/301362 ^@ NM_004329.2(BMPR1A):c.*664C>T http://identifiers.org/clinvar/360555 ^@ NM_000181.3(GUSB):c.210+11G>C http://identifiers.org/clinvar/365465 ^@ NM_000368.4(TSC1):c.*1969T>C http://identifiers.org/clinvar/365473 ^@ NM_000368.4(TSC1):c.*1519delC http://identifiers.org/clinvar/360557 ^@ NM_000181.3(GUSB):c.13T>C (p.Ser5Pro) http://identifiers.org/clinvar/360558 ^@ NM_000181.3(GUSB):c.-12G>A http://identifiers.org/clinvar/365475 ^@ NM_000368.4(TSC1):c.*1508A>G http://identifiers.org/clinvar/365479 ^@ NM_000368.4(TSC1):c.*1322C>T http://identifiers.org/clinvar/365481 ^@ NM_000368.4(TSC1):c.*1089G>A http://identifiers.org/clinvar/360565 ^@ NM_000048.3(ASL):c.155C>T (p.Ala52Val) http://identifiers.org/clinvar/301366 ^@ NM_004329.2(BMPR1A):c.*893T>C http://identifiers.org/clinvar/360471 ^@ NM_005228.4(EGFR):c.3547C>A (p.Pro1183Thr) http://identifiers.org/clinvar/301367 ^@ NM_004329.2(BMPR1A):c.*946A>G http://identifiers.org/clinvar/365482 ^@ NM_000368.4(TSC1):c.*1052G>A http://identifiers.org/clinvar/365483 ^@ NM_000368.4(TSC1):c.*1050T>C http://identifiers.org/clinvar/360476 ^@ NM_005228.4(EGFR):c.*294dupA http://identifiers.org/clinvar/301370 ^@ NM_004329.2(BMPR1A):c.*1349G>T http://identifiers.org/clinvar/360480 ^@ NM_005228.4(EGFR):c.*558G>A http://identifiers.org/clinvar/360481 ^@ NM_005228.4(EGFR):c.*708T>C http://identifiers.org/clinvar/301388 ^@ NM_005271.4(GLUD1):c.*64T>C http://identifiers.org/clinvar/301390 ^@ NM_005271.4(GLUD1):c.1557+12G>A http://identifiers.org/clinvar/301391 ^@ NM_005271.4(GLUD1):c.1515C>T (p.Ile505=) http://identifiers.org/clinvar/365487 ^@ NM_000368.4(TSC1):c.*859G>T http://identifiers.org/clinvar/365497 ^@ NM_000368.4(TSC1):c.*448G>A http://identifiers.org/clinvar/365505 ^@ NM_000368.4(TSC1):c.*279T>G http://identifiers.org/clinvar/360576 ^@ NM_153033.4(KCTD7):c.-181T>G http://identifiers.org/clinvar/360580 ^@ NM_153033.4(KCTD7):c.-94C>T http://identifiers.org/clinvar/301392 ^@ NM_005271.4(GLUD1):c.1403-11T>C http://identifiers.org/clinvar/360584 ^@ NM_153033.4(KCTD7):c.-44C>T http://identifiers.org/clinvar/301400 ^@ NM_005271.4(GLUD1):c.104G>A (p.Gly35Glu) http://identifiers.org/clinvar/365506 ^@ NM_000368.4(TSC1):c.*198T>C http://identifiers.org/clinvar/365507 ^@ NM_000368.4(TSC1):c.*106A>G http://identifiers.org/clinvar/365508 ^@ NM_000368.4(TSC1):c.*60T>G http://identifiers.org/clinvar/360590 ^@ NM_153033.4(KCTD7):c.*216A>G http://identifiers.org/clinvar/365509 ^@ NM_000368.4(TSC1):c.3252A>C (p.Ser1084=) http://identifiers.org/clinvar/365511 ^@ NM_000368.4(TSC1):c.2626-4_2626-3dupTC http://identifiers.org/clinvar/365514 ^@ NM_000368.4(TSC1):c.2626-6_2626-4dupTTT http://identifiers.org/clinvar/365517 ^@ NM_000368.4(TSC1):c.1745C>T (p.Thr582Ile) http://identifiers.org/clinvar/360485 ^@ NM_005228.4(EGFR):c.*1070T>C http://identifiers.org/clinvar/301405 ^@ NM_000314.6(PTEN):c.-736C>G http://identifiers.org/clinvar/301407 ^@ NM_000314.6(PTEN):c.-533G>T http://identifiers.org/clinvar/365519 ^@ NM_000368.4(TSC1):c.108C>T (p.Asp36=) http://identifiers.org/clinvar/365527 ^@ NM_003172.3(SURF1):c.643C>G (p.Pro215Ala) http://identifiers.org/clinvar/365529 ^@ NM_003172.3(SURF1):c.352A>T (p.Arg118Trp) http://identifiers.org/clinvar/360594 ^@ NM_153033.4(KCTD7):c.*690G>C http://identifiers.org/clinvar/301408 ^@ NM_000314.6(PTEN):c.-507delG http://identifiers.org/clinvar/360595 ^@ NM_153033.4(KCTD7):c.*708C>T http://identifiers.org/clinvar/301411 ^@ NM_000314.6(PTEN):c.-458G>T http://identifiers.org/clinvar/360491 ^@ NM_005228.4(EGFR):c.*1689A>G http://identifiers.org/clinvar/301412 ^@ NM_000314.6(PTEN):c.-425G>T http://identifiers.org/clinvar/360599 ^@ NM_153033.4(KCTD7):c.*892C>T http://identifiers.org/clinvar/301417 ^@ NM_000314.6(PTEN):c.-190G>A http://identifiers.org/clinvar/365530 ^@ NM_003172.3(SURF1):c.211G>C (p.Val71Leu) http://identifiers.org/clinvar/360492 ^@ NM_005228.4(EGFR):c.*1704A>G http://identifiers.org/clinvar/301421 ^@ NM_000314.6(PTEN):c.-111G>T http://identifiers.org/clinvar/301422 ^@ NM_000314.6(PTEN):c.-29_-27delCCT http://identifiers.org/clinvar/301427 ^@ NM_000314.6(PTEN):c.*178T>G http://identifiers.org/clinvar/360604 ^@ NM_153033.4(KCTD7):c.*1581C>G http://identifiers.org/clinvar/301432 ^@ NM_000314.6(PTEN):c.*515T>C http://identifiers.org/clinvar/301435 ^@ NM_000314.6(PTEN):c.*621G>T http://identifiers.org/clinvar/365531 ^@ NM_139025.4(ADAMTS13):c.-357T>C http://identifiers.org/clinvar/301437 ^@ NM_000314.6(PTEN):c.*640C>A http://identifiers.org/clinvar/301438 ^@ NM_000314.6(PTEN):c.*666dupT http://identifiers.org/clinvar/301441 ^@ NM_000314.6(PTEN):c.*791_*793delGAA http://identifiers.org/clinvar/360605 ^@ NM_153033.4(KCTD7):c.*1587C>T http://identifiers.org/clinvar/360606 ^@ NM_153033.4(KCTD7):c.*1619A>G http://identifiers.org/clinvar/365532 ^@ NM_139025.4(ADAMTS13):c.-280G>A http://identifiers.org/clinvar/301450 ^@ NM_000314.6(PTEN):c.*1363dupA http://identifiers.org/clinvar/365536 ^@ NM_139025.4(ADAMTS13):c.539+7G>A http://identifiers.org/clinvar/360615 ^@ NM_153033.4(KCTD7):c.*2080A>G http://identifiers.org/clinvar/365539 ^@ NM_139025.4(ADAMTS13):c.824+5C>G http://identifiers.org/clinvar/360618 ^@ NM_153033.4(KCTD7):c.*2322G>A http://identifiers.org/clinvar/360620 ^@ NM_153033.4(KCTD7):c.*2692A>G http://identifiers.org/clinvar/360624 ^@ NM_153033.4(KCTD7):c.*2868C>T http://identifiers.org/clinvar/360627 ^@ NM_153033.4(KCTD7):c.*3752C>G http://identifiers.org/clinvar/360493 ^@ NM_004577.3(PSPH):c.*649A>C http://identifiers.org/clinvar/360495 ^@ NM_004577.3(PSPH):c.*406G>A http://identifiers.org/clinvar/360632 ^@ NM_153033.4(KCTD7):c.*3991G>C http://identifiers.org/clinvar/360498 ^@ NM_004577.3(PSPH):c.*341G>A http://identifiers.org/clinvar/301457 ^@ NM_000314.6(PTEN):c.*1442T>G http://identifiers.org/clinvar/301458 ^@ NM_000314.6(PTEN):c.*1449T>G http://identifiers.org/clinvar/360502 ^@ NM_004577.3(PSPH):c.*277G>A http://identifiers.org/clinvar/360503 ^@ NM_004577.3(PSPH):c.*233dupT http://identifiers.org/clinvar/301464 ^@ NM_000314.6(PTEN):c.*1529C>T http://identifiers.org/clinvar/301471 ^@ NM_000314.6(PTEN):c.*1669C>A http://identifiers.org/clinvar/360633 ^@ NM_000501.3(ELN):c.-70G>C http://identifiers.org/clinvar/301481 ^@ NM_000314.6(PTEN):c.*2162A>G http://identifiers.org/clinvar/301488 ^@ NM_000314.6(PTEN):c.*2408_*2414delTATTATA http://identifiers.org/clinvar/301491 ^@ NM_000314.6(PTEN):c.*2551G>A http://identifiers.org/clinvar/360640 ^@ NM_000501.3(ELN):c.921A>G (p.Ala307=) http://identifiers.org/clinvar/360505 ^@ NM_004577.3(PSPH):c.455C>T (p.Thr152Ile) http://identifiers.org/clinvar/365543 ^@ NM_139025.4(ADAMTS13):c.1245-3C>T http://identifiers.org/clinvar/365552 ^@ NM_139025.4(ADAMTS13):c.2107C>T (p.Leu703=) http://identifiers.org/clinvar/360507 ^@ NM_004577.3(PSPH):c.159C>T (p.Gly53=) http://identifiers.org/clinvar/301492 ^@ NM_000314.6(PTEN):c.*2558C>A http://identifiers.org/clinvar/301493 ^@ NM_000314.6(PTEN):c.*2683_*2684insACA http://identifiers.org/clinvar/360508 ^@ NM_004577.3(PSPH):c.149G>A (p.Arg50Gln) http://identifiers.org/clinvar/301498 ^@ NM_000314.6(PTEN):c.*2821A>T http://identifiers.org/clinvar/360641 ^@ NM_000501.3(ELN):c.930C>T (p.Ala310=) http://identifiers.org/clinvar/301505 ^@ NM_001613.2(ACTA2):c.*43A>G http://identifiers.org/clinvar/360642 ^@ NM_000501.3(ELN):c.931G>A (p.Ala311Thr) http://identifiers.org/clinvar/360645 ^@ NM_000501.3(ELN):c.1096+45_1096+50dupGTGTGT http://identifiers.org/clinvar/301508 ^@ NM_001613.2(ACTA2):c.417G>A (p.Gln139=) http://identifiers.org/clinvar/360643 ^@ NM_000501.3(ELN):c.1096+49_1096+50dupGT http://identifiers.org/clinvar/360649 ^@ NM_000501.3(ELN):c.1234G>A (p.Gly412Arg) http://identifiers.org/clinvar/301511 ^@ NM_001613.2(ACTA2):c.13G>C (p.Glu5Gln) http://identifiers.org/clinvar/360650 ^@ NM_000501.3(ELN):c.1271G>A (p.Gly424Glu) http://identifiers.org/clinvar/301513 ^@ NM_001613.2(ACTA2):c.-115A>G http://identifiers.org/clinvar/301515 ^@ NM_001141945.2(ACTA2):c.-24+409G>A http://identifiers.org/clinvar/360514 ^@ NM_004577.3(PSPH):c.95A>G (p.Asp32Gly) http://identifiers.org/clinvar/360516 ^@ NM_004577.3(PSPH):c.72G>C (p.Thr24=) http://identifiers.org/clinvar/360517 ^@ NM_004577.3(PSPH):c.60T>C (p.Asp20=) http://identifiers.org/clinvar/301519 ^@ NG_009089.2:g.5252G>A http://identifiers.org/clinvar/360520 ^@ NM_004577.3(PSPH):c.-145-15A>G http://identifiers.org/clinvar/360652 ^@ NM_000501.3(ELN):c.1317C>T (p.Pro439=) http://identifiers.org/clinvar/360654 ^@ NM_000501.3(ELN):c.1339G>A (p.Ala447Thr) http://identifiers.org/clinvar/360659 ^@ NM_000501.3(ELN):c.1861G>A (p.Ala621Thr) http://identifiers.org/clinvar/313557 ^@ NM_182914.2(SYNE2):c.11061A>G (p.Ala3687=) http://identifiers.org/clinvar/307614 ^@ NM_012463.3(ATP6V0A2):c.*1599C>T http://identifiers.org/clinvar/307619 ^@ NM_012463.3(ATP6V0A2):c.*1799A>C http://identifiers.org/clinvar/306465 ^@ NM_005591.3(MRE11):c.*1086A>G http://identifiers.org/clinvar/306467 ^@ NM_005591.3(MRE11):c.*997A>G http://identifiers.org/clinvar/307621 ^@ NM_012463.3(ATP6V0A2):c.*2039C>G http://identifiers.org/clinvar/325059 ^@ NM_173477.4(USH1G):c.344G>A (p.Arg115His) http://identifiers.org/clinvar/306476 ^@ NM_005591.3(MRE11):c.*654_*659dupTCTCTC http://identifiers.org/clinvar/325060 ^@ NM_173477.4(USH1G):c.-173G>C http://identifiers.org/clinvar/325063 ^@ NM_021734.4(SLC25A19):c.*200G>A http://identifiers.org/clinvar/325066 ^@ NM_021734.4(SLC25A19):c.324C>G (p.His108Gln) http://identifiers.org/clinvar/306482 ^@ NM_005591.3(MRE11):c.*628G>A http://identifiers.org/clinvar/306487 ^@ NM_005591.3(MRE11):c.*189G>A http://identifiers.org/clinvar/313560 ^@ NM_182914.2(SYNE2):c.11550C>A (p.Asp3850Glu) http://identifiers.org/clinvar/325067 ^@ NM_021734.4(SLC25A19):c.246C>T (p.His82=) http://identifiers.org/clinvar/307622 ^@ NM_012463.3(ATP6V0A2):c.*2085C>G http://identifiers.org/clinvar/325084 ^@ NM_207346.2(TSEN54):c.521+9C>G http://identifiers.org/clinvar/325087 ^@ NM_207346.2(TSEN54):c.767G>A (p.Gly256Asp) http://identifiers.org/clinvar/325089 ^@ NM_207346.2(TSEN54):c.1043T>A (p.Leu348His) http://identifiers.org/clinvar/313561 ^@ NM_182914.2(SYNE2):c.11671-4C>A http://identifiers.org/clinvar/313565 ^@ NM_182914.2(SYNE2):c.12064G>A (p.Glu4022Lys) http://identifiers.org/clinvar/313569 ^@ NM_182914.2(SYNE2):c.12311A>C (p.Asn4104Thr) http://identifiers.org/clinvar/325091 ^@ NM_207346.2(TSEN54):c.1209G>C (p.Gln403His) http://identifiers.org/clinvar/313572 ^@ NM_182914.2(SYNE2):c.12382-14G>T http://identifiers.org/clinvar/325095 ^@ NM_207346.2(TSEN54):c.1430+4C>T http://identifiers.org/clinvar/313583 ^@ NM_182914.2(SYNE2):c.13065A>G (p.Gln4355=) http://identifiers.org/clinvar/313584 ^@ NM_182914.2(SYNE2):c.13156C>G (p.Gln4386Glu) http://identifiers.org/clinvar/325097 ^@ NM_207346.2(TSEN54):c.1486G>A (p.Gly496Arg) http://identifiers.org/clinvar/313585 ^@ NM_182914.2(SYNE2):c.13280+3A>G http://identifiers.org/clinvar/313586 ^@ NM_182914.2(SYNE2):c.13281-6C>T http://identifiers.org/clinvar/307625 ^@ NM_012463.3(ATP6V0A2):c.*2186_*2189delTTCT http://identifiers.org/clinvar/325118 ^@ NM_001005731.2(ITGB4):c.-125G>C http://identifiers.org/clinvar/307626 ^@ NM_012463.3(ATP6V0A2):c.*2198C>T http://identifiers.org/clinvar/306488 ^@ NM_005591.3(MRE11):c.*183G>A http://identifiers.org/clinvar/306489 ^@ NM_005591.3(MRE11):c.1868-4C>A http://identifiers.org/clinvar/306490 ^@ NM_005591.3(MRE11):c.1545A>G (p.Glu515=) http://identifiers.org/clinvar/307628 ^@ NM_012463.3(ATP6V0A2):c.*2353G>T http://identifiers.org/clinvar/306498 ^@ NM_005591.3(MRE11):c.-106+5G>A http://identifiers.org/clinvar/307632 ^@ NM_012463.3(ATP6V0A2):c.*2833A>T http://identifiers.org/clinvar/313592 ^@ NM_182914.2(SYNE2):c.13708-14C>A http://identifiers.org/clinvar/306502 ^@ NM_016156.5(MTMR2):c.*2187A>G http://identifiers.org/clinvar/306505 ^@ NM_016156.5(MTMR2):c.*1952G>A http://identifiers.org/clinvar/313595 ^@ NM_182914.2(SYNE2):c.14071A>G (p.Lys4691Glu) http://identifiers.org/clinvar/306507 ^@ NM_016156.5(MTMR2):c.*1888delC http://identifiers.org/clinvar/307636 ^@ NM_012463.3(ATP6V0A2):c.*3042T>G http://identifiers.org/clinvar/313596 ^@ NM_182914.2(SYNE2):c.14110G>T (p.Ala4704Ser) http://identifiers.org/clinvar/306510 ^@ NM_016156.5(MTMR2):c.*1684A>C http://identifiers.org/clinvar/306522 ^@ NM_016156.5(MTMR2):c.*987T>C http://identifiers.org/clinvar/313606 ^@ NM_182914.2(SYNE2):c.15252C>T (p.Ser5084=) http://identifiers.org/clinvar/307640 ^@ NM_012463.3(ATP6V0A2):c.*3235A>G http://identifiers.org/clinvar/313607 ^@ NM_182914.2(SYNE2):c.15256C>T (p.His5086Tyr) http://identifiers.org/clinvar/325119 ^@ NM_001005731.2(ITGB4):c.-68C>T http://identifiers.org/clinvar/313611 ^@ NM_182914.2(SYNE2):c.15720A>C (p.Ala5240=) http://identifiers.org/clinvar/307646 ^@ NM_012463.3(ATP6V0A2):c.*3665T>G http://identifiers.org/clinvar/313618 ^@ NM_182914.2(SYNE2):c.16304T>G (p.Leu5435Arg) http://identifiers.org/clinvar/307661 ^@ NM_004064.4(CDKN1B):c.234G>A (p.Glu78=) http://identifiers.org/clinvar/306540 ^@ NM_016156.5(MTMR2):c.1450A>G (p.Ile484Val) http://identifiers.org/clinvar/306544 ^@ NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) http://identifiers.org/clinvar/306548 ^@ NM_016156.5(MTMR2):c.-82C>T http://identifiers.org/clinvar/325120 ^@ NM_001005731.2(ITGB4):c.-23T>C http://identifiers.org/clinvar/307669 ^@ NM_004064.4(CDKN1B):c.476-6G>A http://identifiers.org/clinvar/325129 ^@ NM_001005731.2(ITGB4):c.1056G>A (p.Ser352=) http://identifiers.org/clinvar/325131 ^@ NM_001005731.2(ITGB4):c.1095G>A (p.Arg365=) http://identifiers.org/clinvar/307678 ^@ NM_004064.4(CDKN1B):c.*379T>C http://identifiers.org/clinvar/325134 ^@ NM_001005731.2(ITGB4):c.1181G>A (p.Arg394Lys) http://identifiers.org/clinvar/306554 ^@ NM_030962.3(SBF2):c.*1439C>A http://identifiers.org/clinvar/313621 ^@ NM_182914.2(SYNE2):c.16378G>A (p.Ala5460Thr) http://identifiers.org/clinvar/325137 ^@ NM_001005731.2(ITGB4):c.1262C>T (p.Thr421Met) http://identifiers.org/clinvar/325140 ^@ NM_001005731.2(ITGB4):c.1413C>T (p.Asn471=) http://identifiers.org/clinvar/307683 ^@ NM_004064.4(CDKN1B):c.*610T>A http://identifiers.org/clinvar/307690 ^@ NM_004064.4(CDKN1B):c.*1073C>T http://identifiers.org/clinvar/307691 ^@ NM_004064.4(CDKN1B):c.*1186T>C http://identifiers.org/clinvar/325142 ^@ NM_001005731.2(ITGB4):c.1533G>A (p.Pro511=) http://identifiers.org/clinvar/325145 ^@ NM_001005731.2(ITGB4):c.1581C>T (p.Gly527=) http://identifiers.org/clinvar/306556 ^@ NM_030962.3(SBF2):c.*1399T>C http://identifiers.org/clinvar/306563 ^@ NM_030962.3(SBF2):c.*631T>C http://identifiers.org/clinvar/307692 ^@ NM_025215.5(PUS1):c.-453C>T http://identifiers.org/clinvar/325147 ^@ NM_001005731.2(ITGB4):c.1666C>T (p.Arg556Cys) http://identifiers.org/clinvar/307698 ^@ NM_025215.5(PUS1):c.207C>G (p.Leu69=) http://identifiers.org/clinvar/313622 ^@ NM_182914.2(SYNE2):c.16419C>T (p.His5473=) http://identifiers.org/clinvar/325152 ^@ NM_001005731.2(ITGB4):c.1860+10A>C http://identifiers.org/clinvar/325154 ^@ NM_001005731.2(ITGB4):c.1945G>A (p.Glu649Lys) http://identifiers.org/clinvar/325156 ^@ NM_001005731.2(ITGB4):c.1972G>T (p.Val658Leu) http://identifiers.org/clinvar/306564 ^@ NM_030962.3(SBF2):c.*514C>T http://identifiers.org/clinvar/306567 ^@ NM_030962.3(SBF2):c.*375G>A http://identifiers.org/clinvar/306570 ^@ NM_030962.3(SBF2):c.*112G>A http://identifiers.org/clinvar/307701 ^@ NM_025215.5(PUS1):c.643C>T (p.Arg215Trp) http://identifiers.org/clinvar/307702 ^@ NM_025215.5(PUS1):c.644G>A (p.Arg215Gln) http://identifiers.org/clinvar/306571 ^@ NM_030962.3(SBF2):c.*51T>C http://identifiers.org/clinvar/325157 ^@ NM_001005731.2(ITGB4):c.2009G>A (p.Arg670His) http://identifiers.org/clinvar/306582 ^@ NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) http://identifiers.org/clinvar/325158 ^@ NM_001005731.2(ITGB4):c.2025C>T (p.Asp675=) http://identifiers.org/clinvar/313623 ^@ NM_182914.2(SYNE2):c.16479+15T>G http://identifiers.org/clinvar/313631 ^@ NM_182914.2(SYNE2):c.17444G>A (p.Cys5815Tyr) http://identifiers.org/clinvar/307704 ^@ NM_025215.5(PUS1):c.725C>T (p.Thr242Met) http://identifiers.org/clinvar/325162 ^@ NM_001005731.2(ITGB4):c.2422G>A (p.Ala808Thr) http://identifiers.org/clinvar/325163 ^@ NM_001005731.2(ITGB4):c.2503C>G (p.Pro835Ala) http://identifiers.org/clinvar/307716 ^@ NM_000834.3(GRIN2B):c.*1153T>C http://identifiers.org/clinvar/307728 ^@ NM_000834.3(GRIN2B):c.*235T>A http://identifiers.org/clinvar/325166 ^@ NM_001005731.2(ITGB4):c.2674C>T (p.Arg892Cys) http://identifiers.org/clinvar/325168 ^@ NM_001005731.2(ITGB4):c.2782+10C>T http://identifiers.org/clinvar/307730 ^@ NM_000834.3(GRIN2B):c.*219C>T http://identifiers.org/clinvar/325173 ^@ NM_001005731.2(ITGB4):c.2962+14G>A http://identifiers.org/clinvar/325184 ^@ NM_001005731.2(ITGB4):c.3809T>C (p.Met1270Thr) http://identifiers.org/clinvar/306585 ^@ NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro) http://identifiers.org/clinvar/313632 ^@ NM_182914.2(SYNE2):c.17524G>A (p.Glu5842Lys) http://identifiers.org/clinvar/313635 ^@ NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=) http://identifiers.org/clinvar/306586 ^@ NM_030962.3(SBF2):c.3257-5C>G http://identifiers.org/clinvar/313639 ^@ NM_182914.2(SYNE2):c.18385A>G (p.Met6129Val) http://identifiers.org/clinvar/313642 ^@ NM_182914.2(SYNE2):c.18541-9G>A http://identifiers.org/clinvar/306589 ^@ NM_030962.3(SBF2):c.3006G>T (p.Lys1002Asn) http://identifiers.org/clinvar/306607 ^@ NM_030962.3(SBF2):c.1509A>G (p.Glu503=) http://identifiers.org/clinvar/306623 ^@ NM_139319.2(SLC17A8):c.210C>T (p.Cys70=) http://identifiers.org/clinvar/307732 ^@ NM_000834.3(GRIN2B):c.*146G>A http://identifiers.org/clinvar/313643 ^@ NM_182914.2(SYNE2):c.18595C>G (p.Gln6199Glu) http://identifiers.org/clinvar/307736 ^@ NM_000834.3(GRIN2B):c.4230G>A (p.Thr1410=) http://identifiers.org/clinvar/325186 ^@ NM_001005731.2(ITGB4):c.3861C>T (p.Asn1287=) http://identifiers.org/clinvar/325191 ^@ NM_001005731.2(ITGB4):c.4109-3C>T http://identifiers.org/clinvar/307745 ^@ NM_000834.3(GRIN2B):c.2247G>A (p.Val749=) http://identifiers.org/clinvar/307746 ^@ NM_000834.3(GRIN2B):c.2172-8C>T http://identifiers.org/clinvar/325192 ^@ NM_001005731.2(ITGB4):c.4231G>A (p.Val1411Met) http://identifiers.org/clinvar/307747 ^@ NM_000834.3(GRIN2B):c.2169A>T (p.Thr723=) http://identifiers.org/clinvar/307750 ^@ NM_000834.3(GRIN2B):c.1500G>A (p.Glu500=) http://identifiers.org/clinvar/325209 ^@ NM_001005731.2(ITGB4):c.4845G>C (p.Gly1615=) http://identifiers.org/clinvar/325213 ^@ NM_001005731.2(ITGB4):c.4969G>C (p.Glu1657Gln) http://identifiers.org/clinvar/325216 ^@ NM_001005731.2(ITGB4):c.5033G>A (p.Arg1678His) http://identifiers.org/clinvar/313646 ^@ NM_182914.2(SYNE2):c.19088A>G (p.Asn6363Ser) http://identifiers.org/clinvar/313653 ^@ NM_182914.2(SYNE2):c.19639A>G (p.Ile6547Val) http://identifiers.org/clinvar/313656 ^@ NM_182914.2(SYNE2):c.20245A>T (p.Ile6749Phe) http://identifiers.org/clinvar/306626 ^@ NM_139319.2(SLC17A8):c.530C>T (p.Ala177Val) http://identifiers.org/clinvar/313659 ^@ NM_182914.2(SYNE2):c.20383-15G>T http://identifiers.org/clinvar/313662 ^@ NM_182914.2(SYNE2):c.20399T>C (p.Leu6800Pro) http://identifiers.org/clinvar/306627 ^@ NM_139319.2(SLC17A8):c.638C>G (p.Pro213Arg) http://identifiers.org/clinvar/306633 ^@ NM_139319.2(SLC17A8):c.1015G>A (p.Ala339Thr) http://identifiers.org/clinvar/306634 ^@ NM_139319.2(SLC17A8):c.1016C>A (p.Ala339Asp) http://identifiers.org/clinvar/325217 ^@ NM_001005731.2(ITGB4):c.5198G>A (p.Arg1733Gln) http://identifiers.org/clinvar/325220 ^@ NM_001005731.2(ITGB4):c.*45C>T http://identifiers.org/clinvar/307760 ^@ NM_000900.3(MGP):c.*538C>G http://identifiers.org/clinvar/307761 ^@ NM_000900.3(MGP):c.*476T>C http://identifiers.org/clinvar/307762 ^@ NM_000900.3(MGP):c.*455delG http://identifiers.org/clinvar/313663 ^@ NM_182914.2(SYNE2):c.20423C>T (p.Ser6808Leu) http://identifiers.org/clinvar/313667 ^@ NM_182914.2(SYNE2):c.20524G>C (p.Gly6842Arg) http://identifiers.org/clinvar/306641 ^@ NM_139319.2(SLC17A8):c.*335C>T http://identifiers.org/clinvar/306646 ^@ NM_139319.2(SLC17A8):c.*817A>T http://identifiers.org/clinvar/306650 ^@ NM_139319.2(SLC17A8):c.*1486A>G http://identifiers.org/clinvar/325224 ^@ NM_000154.1(GALK1):c.1096C>T (p.Arg366Trp) http://identifiers.org/clinvar/325229 ^@ NM_000154.1(GALK1):c.840C>T (p.His280=) http://identifiers.org/clinvar/307777 ^@ NM_000900.3(MGP):c.-66C>A http://identifiers.org/clinvar/307784 ^@ NM_006205.2(PDE6H):c.*71C>T http://identifiers.org/clinvar/313674 ^@ NM_182914.2(SYNE2):c.*145C>A http://identifiers.org/clinvar/325234 ^@ NM_000154.1(GALK1):c.165+6G>A http://identifiers.org/clinvar/313678 ^@ NM_182914.2(SYNE2):c.*305G>T http://identifiers.org/clinvar/313684 ^@ NM_182914.2(SYNE2):c.*581G>A http://identifiers.org/clinvar/325236 ^@ NM_199242.2(UNC13D):c.*621C>T http://identifiers.org/clinvar/325239 ^@ NM_199242.2(UNC13D):c.*64C>T http://identifiers.org/clinvar/313685 ^@ NM_182914.2(SYNE2):c.*661T>A http://identifiers.org/clinvar/307787 ^@ NM_006205.2(PDE6H):c.*301A>G http://identifiers.org/clinvar/307797 ^@ NM_172364.4(CACNA2D4):c.*1596G>A http://identifiers.org/clinvar/313687 ^@ NM_182914.2(SYNE2):c.*663A>T http://identifiers.org/clinvar/313688 ^@ NM_182914.2(SYNE2):c.*695T>G http://identifiers.org/clinvar/307799 ^@ NM_172364.4(CACNA2D4):c.*1557A>C http://identifiers.org/clinvar/325243 ^@ NM_199242.2(UNC13D):c.3141C>A (p.Pro1047=) http://identifiers.org/clinvar/307803 ^@ NM_172364.4(CACNA2D4):c.*1387G>A http://identifiers.org/clinvar/325253 ^@ NM_199242.2(UNC13D):c.2254C>A (p.Leu752Met) http://identifiers.org/clinvar/307804 ^@ NM_172364.4(CACNA2D4):c.*1364T>C http://identifiers.org/clinvar/313690 ^@ NM_182914.2(SYNE2):c.*720C>T http://identifiers.org/clinvar/307809 ^@ NM_172364.4(CACNA2D4):c.*1271C>T http://identifiers.org/clinvar/306651 ^@ NM_139319.2(SLC17A8):c.*1496_*1497insT http://identifiers.org/clinvar/307812 ^@ NM_172364.4(CACNA2D4):c.*1200C>T http://identifiers.org/clinvar/307813 ^@ NM_172364.4(CACNA2D4):c.*1177G>A http://identifiers.org/clinvar/325258 ^@ NM_199242.2(UNC13D):c.2002C>T (p.Arg668Cys) http://identifiers.org/clinvar/307816 ^@ NM_172364.4(CACNA2D4):c.*954G>C http://identifiers.org/clinvar/313704 ^@ NM_000347.5(SPTB):c.5928C>G (p.Ala1976=) http://identifiers.org/clinvar/325261 ^@ NM_199242.2(UNC13D):c.1622C>T (p.Thr541Met) http://identifiers.org/clinvar/313707 ^@ NM_000347.5(SPTB):c.5775G>T (p.Gln1925His) http://identifiers.org/clinvar/307817 ^@ NM_172364.4(CACNA2D4):c.*789A>G http://identifiers.org/clinvar/313710 ^@ NM_000347.5(SPTB):c.5467G>A (p.Asp1823Asn) http://identifiers.org/clinvar/313711 ^@ NM_000347.5(SPTB):c.5463C>T (p.Pro1821=) http://identifiers.org/clinvar/307821 ^@ NM_172364.4(CACNA2D4):c.*513G>A http://identifiers.org/clinvar/307822 ^@ NM_172364.4(CACNA2D4):c.*467A>G http://identifiers.org/clinvar/307826 ^@ NM_172364.4(CACNA2D4):c.*112C>T http://identifiers.org/clinvar/307830 ^@ NM_172364.4(CACNA2D4):c.3356C>T (p.Pro1119Leu) http://identifiers.org/clinvar/306656 ^@ NM_139319.2(SLC17A8):c.*1513_*1521delTTTTTTTTT http://identifiers.org/clinvar/307838 ^@ NM_172364.4(CACNA2D4):c.2913G>C (p.Glu971Asp) http://identifiers.org/clinvar/313714 ^@ NM_000347.5(SPTB):c.5319C>T (p.Asp1773=) http://identifiers.org/clinvar/325263 ^@ NM_199242.2(UNC13D):c.1408T>C (p.Phe470Leu) http://identifiers.org/clinvar/325513 ^@ NM_004870.3(MPDU1):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/307842 ^@ NM_172364.4(CACNA2D4):c.2714C>T (p.Ser905Phe) http://identifiers.org/clinvar/307843 ^@ NM_172364.4(CACNA2D4):c.2688C>T (p.Asn896=) http://identifiers.org/clinvar/325267 ^@ NM_199242.2(UNC13D):c.977C>T (p.Ser326Leu) http://identifiers.org/clinvar/307854 ^@ NM_172364.4(CACNA2D4):c.2095C>T (p.Leu699Phe) http://identifiers.org/clinvar/307855 ^@ NM_172364.4(CACNA2D4):c.2046C>T (p.Ala682=) http://identifiers.org/clinvar/325268 ^@ NM_199242.2(UNC13D):c.972C>T (p.Asp324=) http://identifiers.org/clinvar/307856 ^@ NM_172364.4(CACNA2D4):c.1926C>T (p.Ser642=) http://identifiers.org/clinvar/307863 ^@ NM_172364.4(CACNA2D4):c.1272+14G>A http://identifiers.org/clinvar/325269 ^@ NM_199242.2(UNC13D):c.904C>T (p.Leu302Phe) http://identifiers.org/clinvar/307867 ^@ NM_172364.4(CACNA2D4):c.718A>G (p.Arg240Gly) http://identifiers.org/clinvar/325275 ^@ NM_199242.2(UNC13D):c.156G>T (p.Arg52=) http://identifiers.org/clinvar/307869 ^@ NM_172364.4(CACNA2D4):c.593T>A (p.Leu198Gln) http://identifiers.org/clinvar/307875 ^@ NM_172364.4(CACNA2D4):c.-72C>T http://identifiers.org/clinvar/313717 ^@ NM_000347.5(SPTB):c.5255C>G (p.Ala1752Gly) http://identifiers.org/clinvar/306705 ^@ NM_002465.3(MYBPC1):c.-46C>T http://identifiers.org/clinvar/307974 ^@ NM_000719.6(CACNA1C):c.-181G>A http://identifiers.org/clinvar/306707 ^@ NM_002465.3(MYBPC1):c.17A>T (p.Lys6Met) http://identifiers.org/clinvar/306717 ^@ NM_002465.3(MYBPC1):c.122C>T (p.Pro41Leu) http://identifiers.org/clinvar/313718 ^@ NM_000347.5(SPTB):c.5181T>C (p.Leu1727=) http://identifiers.org/clinvar/307892 ^@ NM_019844.3(SLCO1B3):c.628+4A>T http://identifiers.org/clinvar/306719 ^@ NM_002465.3(MYBPC1):c.192C>T (p.Val64=) http://identifiers.org/clinvar/313724 ^@ NM_000347.5(SPTB):c.4782C>T (p.Asp1594=) http://identifiers.org/clinvar/325277 ^@ NM_199242.2(UNC13D):c.43T>G (p.Leu15Val) http://identifiers.org/clinvar/306720 ^@ NM_002465.3(MYBPC1):c.309A>T (p.Ile103=) http://identifiers.org/clinvar/313726 ^@ NM_000347.5(SPTB):c.4606G>C (p.Asp1536His) http://identifiers.org/clinvar/325279 ^@ NM_199242.2(UNC13D):c.-149G>A http://identifiers.org/clinvar/313727 ^@ NM_000347.5(SPTB):c.4564-7G>A http://identifiers.org/clinvar/313730 ^@ NM_000347.5(SPTB):c.4349G>T (p.Gly1450Val) http://identifiers.org/clinvar/313740 ^@ NM_000347.5(SPTB):c.3311C>G (p.Ala1104Gly) http://identifiers.org/clinvar/306739 ^@ NM_002465.3(MYBPC1):c.2013C>T (p.Asp671=) http://identifiers.org/clinvar/325281 ^@ NM_199242.2(UNC13D):c.-176G>A http://identifiers.org/clinvar/307898 ^@ NM_019844.3(SLCO1B3):c.988A>G (p.Lys330Glu) http://identifiers.org/clinvar/325284 ^@ NM_199242.2(UNC13D):c.-250C>T http://identifiers.org/clinvar/313744 ^@ NM_000347.5(SPTB):c.2934G>A (p.Glu978=) http://identifiers.org/clinvar/325286 ^@ NM_199242.2(UNC13D):c.-278C>T http://identifiers.org/clinvar/325288 ^@ NM_199242.2(UNC13D):c.-332G>A http://identifiers.org/clinvar/325290 ^@ NM_199242.2(UNC13D):c.-356C>T http://identifiers.org/clinvar/306748 ^@ NM_002465.3(MYBPC1):c.3262A>T (p.Met1088Leu) http://identifiers.org/clinvar/313746 ^@ NM_000347.5(SPTB):c.2441G>A (p.Arg814Gln) http://identifiers.org/clinvar/313748 ^@ NM_000347.5(SPTB):c.2303G>A (p.Gly768Asp) http://identifiers.org/clinvar/325291 ^@ NM_199242.2(UNC13D):c.-363C>T http://identifiers.org/clinvar/313750 ^@ NM_000347.5(SPTB):c.2188G>A (p.Asp730Asn) http://identifiers.org/clinvar/325515 ^@ NM_004870.3(MPDU1):c.393C>T (p.Val131=) http://identifiers.org/clinvar/306751 ^@ NM_002465.3(MYBPC1):c.*45C>T http://identifiers.org/clinvar/306755 ^@ NM_002465.3(MYBPC1):c.*266dupG http://identifiers.org/clinvar/313753 ^@ NM_000347.5(SPTB):c.2108T>C (p.Met703Thr) http://identifiers.org/clinvar/313759 ^@ NM_000347.5(SPTB):c.1765G>A (p.Ala589Thr) http://identifiers.org/clinvar/307908 ^@ NM_019844.3(SLCO1B3):c.1614T>C (p.Val538=) http://identifiers.org/clinvar/306758 ^@ NM_153694.4(SYCP3):c.*241_*244delCTCT http://identifiers.org/clinvar/325524 ^@ NM_004870.3(MPDU1):c.*308G>T http://identifiers.org/clinvar/325294 ^@ NM_004035.6(ACOX1):c.*5124A>G http://identifiers.org/clinvar/307909 ^@ NM_019844.3(SLCO1B3):c.1747+5G>A http://identifiers.org/clinvar/307912 ^@ NM_019844.3(SLCO1B3):c.1857A>T (p.Val619=) http://identifiers.org/clinvar/307919 ^@ NM_019844.3(SLCO1B3):c.*307T>C http://identifiers.org/clinvar/313763 ^@ NM_000347.5(SPTB):c.1561C>T (p.Arg521Cys) http://identifiers.org/clinvar/325297 ^@ NM_004035.6(ACOX1):c.*5037T>C http://identifiers.org/clinvar/313764 ^@ NM_000347.5(SPTB):c.1512C>T (p.Asp504=) http://identifiers.org/clinvar/325304 ^@ NM_004035.6(ACOX1):c.*4516G>A http://identifiers.org/clinvar/307920 ^@ NM_019844.3(SLCO1B3):c.*339G>C http://identifiers.org/clinvar/307923 ^@ NM_019844.3(SLCO1B3):c.*540G>A http://identifiers.org/clinvar/325312 ^@ NM_004035.6(ACOX1):c.*4295_*4296delGC http://identifiers.org/clinvar/306772 ^@ NM_024312.4(GNPTAB):c.*1233T>G http://identifiers.org/clinvar/306773 ^@ NM_024312.4(GNPTAB):c.*1195A>C http://identifiers.org/clinvar/307925 ^@ NM_019844.3(SLCO1B3):c.*560T>C http://identifiers.org/clinvar/313772 ^@ NM_000347.5(SPTB):c.996C>T (p.Asn332=) http://identifiers.org/clinvar/313775 ^@ NM_000347.5(SPTB):c.807T>C (p.Tyr269=) http://identifiers.org/clinvar/313778 ^@ NM_000347.5(SPTB):c.609G>A (p.Lys203=) http://identifiers.org/clinvar/307929 ^@ NM_019844.3(SLCO1B3):c.*627G>A http://identifiers.org/clinvar/325317 ^@ NM_004035.6(ACOX1):c.*4021C>T http://identifiers.org/clinvar/307931 ^@ NM_006446.4(SLCO1B1):c.66A>T (p.Arg22Ser) http://identifiers.org/clinvar/325318 ^@ NM_004035.6(ACOX1):c.*3988A>T http://identifiers.org/clinvar/306776 ^@ NM_024312.4(GNPTAB):c.*1093C>G http://identifiers.org/clinvar/313781 ^@ NM_000347.5(SPTB):c.228C>G (p.Thr76=) http://identifiers.org/clinvar/313782 ^@ NM_000347.5(SPTB):c.221G>A (p.Arg74His) http://identifiers.org/clinvar/325319 ^@ NM_004035.6(ACOX1):c.*3943C>T http://identifiers.org/clinvar/325323 ^@ NM_004035.6(ACOX1):c.*3531dupT http://identifiers.org/clinvar/307936 ^@ NM_006446.4(SLCO1B1):c.411G>A (p.Ser137=) http://identifiers.org/clinvar/313783 ^@ NM_000347.5(SPTB):c.204G>A (p.Leu68=) http://identifiers.org/clinvar/307940 ^@ NM_006446.4(SLCO1B1):c.703G>A (p.Val235Met) http://identifiers.org/clinvar/306777 ^@ NM_024312.4(GNPTAB):c.*920G>A http://identifiers.org/clinvar/313787 ^@ NM_000347.5(SPTB):c.-23G>A http://identifiers.org/clinvar/325325 ^@ NM_004035.6(ACOX1):c.*3377dupT http://identifiers.org/clinvar/313789 ^@ NM_002382.4(MAX):c.*1285T>C http://identifiers.org/clinvar/306783 ^@ NM_024312.4(GNPTAB):c.*612T>C http://identifiers.org/clinvar/313793 ^@ NM_002382.4(MAX):c.*1127G>C http://identifiers.org/clinvar/307956 ^@ NM_006446.4(SLCO1B1):c.1729A>C (p.Met577Leu) http://identifiers.org/clinvar/313795 ^@ NM_002382.4(MAX):c.*1023C>T http://identifiers.org/clinvar/325326 ^@ NM_004035.6(ACOX1):c.*3345C>A http://identifiers.org/clinvar/325329 ^@ NM_004035.6(ACOX1):c.*2771A>C http://identifiers.org/clinvar/325330 ^@ NM_004035.6(ACOX1):c.*2737C>T http://identifiers.org/clinvar/306787 ^@ NM_024312.4(GNPTAB):c.*419delT http://identifiers.org/clinvar/313797 ^@ NM_002382.4(MAX):c.*873T>C http://identifiers.org/clinvar/307957 ^@ NM_006446.4(SLCO1B1):c.1747+9A>G http://identifiers.org/clinvar/325333 ^@ NM_004035.6(ACOX1):c.*2643C>T http://identifiers.org/clinvar/307964 ^@ NM_006446.4(SLCO1B1):c.*197T>C http://identifiers.org/clinvar/325336 ^@ NM_004035.6(ACOX1):c.*2235G>C http://identifiers.org/clinvar/307976 ^@ NM_021957.3(GYS2):c.*739_*742delTAAA http://identifiers.org/clinvar/307978 ^@ NM_021957.3(GYS2):c.*631delG http://identifiers.org/clinvar/307981 ^@ NM_021957.3(GYS2):c.*437dupT http://identifiers.org/clinvar/325340 ^@ NM_004035.6(ACOX1):c.*1853T>C http://identifiers.org/clinvar/313804 ^@ NM_002382.4(MAX):c.*503T>G http://identifiers.org/clinvar/325347 ^@ NM_004035.6(ACOX1):c.*1135_*1141delGGTTAAA http://identifiers.org/clinvar/313808 ^@ NM_002382.4(MAX):c.*375G>A http://identifiers.org/clinvar/307982 ^@ NM_021957.3(GYS2):c.*359C>T http://identifiers.org/clinvar/306790 ^@ NM_024312.4(GNPTAB):c.*63C>T http://identifiers.org/clinvar/307987 ^@ NM_021957.3(GYS2):c.2004C>T (p.Tyr668=) http://identifiers.org/clinvar/313809 ^@ NM_002382.4(MAX):c.*344T>A http://identifiers.org/clinvar/307988 ^@ NM_021957.3(GYS2):c.1890+12A>G http://identifiers.org/clinvar/306798 ^@ NM_024312.4(GNPTAB):c.3286C>T (p.Pro1096Ser) http://identifiers.org/clinvar/307991 ^@ NM_021957.3(GYS2):c.1713C>T (p.Leu571=) http://identifiers.org/clinvar/325349 ^@ NM_004035.6(ACOX1):c.*1083C>T http://identifiers.org/clinvar/313810 ^@ NM_002382.4(MAX):c.*320T>G http://identifiers.org/clinvar/325353 ^@ NM_004035.6(ACOX1):c.*959dupT http://identifiers.org/clinvar/325359 ^@ NM_004035.6(ACOX1):c.*721A>G http://identifiers.org/clinvar/325366 ^@ NM_004035.6(ACOX1):c.*620G>A http://identifiers.org/clinvar/306805 ^@ NM_024312.4(GNPTAB):c.2499A>G (p.Glu833=) http://identifiers.org/clinvar/313819 ^@ NM_002382.4(MAX):c.25G>T (p.Val9Leu) http://identifiers.org/clinvar/306815 ^@ NM_024312.4(GNPTAB):c.571+12T>C http://identifiers.org/clinvar/313821 ^@ NM_002382.4(MAX):c.-30C>G http://identifiers.org/clinvar/313823 ^@ NM_002382.4(MAX):c.-94G>C http://identifiers.org/clinvar/313824 ^@ NM_002382.4(MAX):c.-98G>T http://identifiers.org/clinvar/306816 ^@ NM_024312.4(GNPTAB):c.513A>G (p.Ala171=) http://identifiers.org/clinvar/313825 ^@ NM_002382.4(MAX):c.-99G>A http://identifiers.org/clinvar/307998 ^@ NM_021957.3(GYS2):c.948C>T (p.Leu316=) http://identifiers.org/clinvar/306817 ^@ NM_024312.4(GNPTAB):c.457G>A (p.Asp153Asn) http://identifiers.org/clinvar/313837 ^@ NM_152443.2(RDH12):c.283C>T (p.Arg95Trp) http://identifiers.org/clinvar/308000 ^@ NM_021957.3(GYS2):c.942-7delG http://identifiers.org/clinvar/325370 ^@ NM_004035.6(ACOX1):c.*441G>A http://identifiers.org/clinvar/313840 ^@ NM_152443.2(RDH12):c.659-12T>C http://identifiers.org/clinvar/325371 ^@ NM_004035.6(ACOX1):c.*155A>T http://identifiers.org/clinvar/313841 ^@ NM_152443.2(RDH12):c.662C>T (p.Thr221Ile) http://identifiers.org/clinvar/313847 ^@ NM_152443.2(RDH12):c.*201C>T http://identifiers.org/clinvar/306824 ^@ NM_024312.4(GNPTAB):c.-33C>T http://identifiers.org/clinvar/313851 ^@ NM_015346.3(ZFYVE26):c.*1582G>A http://identifiers.org/clinvar/306827 ^@ NM_000618.4(IGF1):c.*6622A>G http://identifiers.org/clinvar/306831 ^@ NM_000618.4(IGF1):c.*6384C>T http://identifiers.org/clinvar/313855 ^@ NM_015346.3(ZFYVE26):c.*1133A>G http://identifiers.org/clinvar/325374 ^@ NM_004035.6(ACOX1):c.1584+11G>A http://identifiers.org/clinvar/308004 ^@ NM_021957.3(GYS2):c.630G>A (p.Gly210=) http://identifiers.org/clinvar/306834 ^@ NM_000618.4(IGF1):c.*6181T>C http://identifiers.org/clinvar/308011 ^@ NM_021957.3(GYS2):c.154G>A (p.Ala52Thr) http://identifiers.org/clinvar/313856 ^@ NM_015346.3(ZFYVE26):c.*1017T>G http://identifiers.org/clinvar/325377 ^@ NM_004035.6(ACOX1):c.1406_1408delCAG (p.Ala469del) http://identifiers.org/clinvar/325385 ^@ NM_004035.6(ACOX1):c.788G>C (p.Gly263Ala) http://identifiers.org/clinvar/313862 ^@ NM_015346.3(ZFYVE26):c.*591C>T http://identifiers.org/clinvar/306835 ^@ NM_000618.4(IGF1):c.*6119G>A http://identifiers.org/clinvar/325389 ^@ NM_004035.6(ACOX1):c.591G>A (p.Gly197=) http://identifiers.org/clinvar/306842 ^@ NM_000618.4(IGF1):c.*5332G>T http://identifiers.org/clinvar/308016 ^@ NM_002300.7(LDHB):c.749A>G (p.Asn250Ser) http://identifiers.org/clinvar/308017 ^@ NM_002300.7(LDHB):c.727A>G (p.Ile243Val) http://identifiers.org/clinvar/306849 ^@ NM_000618.4(IGF1):c.*4669G>T http://identifiers.org/clinvar/308018 ^@ NM_002300.7(LDHB):c.719A>G (p.Tyr240Cys) http://identifiers.org/clinvar/325395 ^@ NM_004035.6(ACOX1):c.-186T>A http://identifiers.org/clinvar/325401 ^@ NM_024599.5(RHBDF2):c.*642G>A http://identifiers.org/clinvar/308022 ^@ NM_002300.7(LDHB):c.528T>A (p.Ala176=) http://identifiers.org/clinvar/308023 ^@ NM_002300.7(LDHB):c.472C>T (p.Arg158Cys) http://identifiers.org/clinvar/313863 ^@ NM_015346.3(ZFYVE26):c.*583C>T http://identifiers.org/clinvar/313865 ^@ NM_015346.3(ZFYVE26):c.*463T>A http://identifiers.org/clinvar/308025 ^@ NM_002300.7(LDHB):c.421+7T>C http://identifiers.org/clinvar/306856 ^@ NM_000618.4(IGF1):c.*4411T>G http://identifiers.org/clinvar/313868 ^@ NM_015346.3(ZFYVE26):c.*101G>A http://identifiers.org/clinvar/313869 ^@ NM_015346.3(ZFYVE26):c.*88G>A http://identifiers.org/clinvar/325410 ^@ NM_024599.5(RHBDF2):c.*366C>G http://identifiers.org/clinvar/325415 ^@ NM_024599.5(RHBDF2):c.*182G>A http://identifiers.org/clinvar/313872 ^@ NM_015346.3(ZFYVE26):c.7588C>T (p.Arg2530Trp) http://identifiers.org/clinvar/325418 ^@ NM_024599.5(RHBDF2):c.*116G>A http://identifiers.org/clinvar/325427 ^@ NM_024599.5(RHBDF2):c.1899G>A (p.Val633=) http://identifiers.org/clinvar/306857 ^@ NM_000618.4(IGF1):c.*4404_*4407delGTTT http://identifiers.org/clinvar/325433 ^@ NM_024599.5(RHBDF2):c.1725+7G>A http://identifiers.org/clinvar/308028 ^@ NM_002300.7(LDHB):c.129+11A>G http://identifiers.org/clinvar/308030 ^@ NM_002300.7(LDHB):c.-102C>A http://identifiers.org/clinvar/306858 ^@ NM_000618.4(IGF1):c.*4404G>T http://identifiers.org/clinvar/325434 ^@ NM_024599.5(RHBDF2):c.1686C>T (p.Ser562=) http://identifiers.org/clinvar/313874 ^@ NM_015346.3(ZFYVE26):c.7411A>G (p.Asn2471Asp) http://identifiers.org/clinvar/306863 ^@ NM_000618.4(IGF1):c.*3923T>C http://identifiers.org/clinvar/308037 ^@ NM_005691.3(ABCC9):c.2238-17delT http://identifiers.org/clinvar/325437 ^@ NM_024599.5(RHBDF2):c.1573A>G (p.Lys525Glu) http://identifiers.org/clinvar/325440 ^@ NM_024599.5(RHBDF2):c.1389+12G>A http://identifiers.org/clinvar/325443 ^@ NM_024599.5(RHBDF2):c.1116C>T (p.Gly372=) http://identifiers.org/clinvar/308040 ^@ NM_005691.3(ABCC9):c.1659+10T>C http://identifiers.org/clinvar/313882 ^@ NM_015346.3(ZFYVE26):c.6160-13A>G http://identifiers.org/clinvar/313883 ^@ NM_015346.3(ZFYVE26):c.6135C>T (p.Ala2045=) http://identifiers.org/clinvar/308043 ^@ NM_005691.3(ABCC9):c.1165-7_1165-6delTT http://identifiers.org/clinvar/306875 ^@ NM_000618.4(IGF1):c.*3365_*3366insGACA http://identifiers.org/clinvar/308045 ^@ NM_005691.3(ABCC9):c.669G>T (p.Leu223=) http://identifiers.org/clinvar/325444 ^@ NM_024599.5(RHBDF2):c.1091G>A (p.Arg364Gln) http://identifiers.org/clinvar/313890 ^@ NM_015346.3(ZFYVE26):c.5146G>A (p.Glu1716Lys) http://identifiers.org/clinvar/325453 ^@ NM_024599.5(RHBDF2):c.700C>T (p.Arg234Cys) http://identifiers.org/clinvar/313893 ^@ NM_015346.3(ZFYVE26):c.4974+12C>T http://identifiers.org/clinvar/313901 ^@ NM_015346.3(ZFYVE26):c.4035G>T (p.Val1345=) http://identifiers.org/clinvar/325454 ^@ NM_024599.5(RHBDF2):c.633G>A (p.Pro211=) http://identifiers.org/clinvar/306878 ^@ NM_000618.4(IGF1):c.*3190A>G http://identifiers.org/clinvar/325460 ^@ NM_024599.5(RHBDF2):c.446T>C (p.Met149Thr) http://identifiers.org/clinvar/306880 ^@ NM_000618.4(IGF1):c.*2716G>A http://identifiers.org/clinvar/306887 ^@ NM_000618.4(IGF1):c.*2364A>G http://identifiers.org/clinvar/306894 ^@ NM_000618.4(IGF1):c.*1724C>T http://identifiers.org/clinvar/325461 ^@ NM_024599.5(RHBDF2):c.414G>T (p.Gln138His) http://identifiers.org/clinvar/306897 ^@ NM_000618.4(IGF1):c.*1319A>G http://identifiers.org/clinvar/325462 ^@ NM_024599.5(RHBDF2):c.401G>A (p.Gly134Glu) http://identifiers.org/clinvar/313904 ^@ NM_015346.3(ZFYVE26):c.3818C>T (p.Pro1273Leu) http://identifiers.org/clinvar/313907 ^@ NM_015346.3(ZFYVE26):c.2859A>T (p.Leu953=) http://identifiers.org/clinvar/325467 ^@ NM_024599.5(RHBDF2):c.31G>A (p.Val11Met) http://identifiers.org/clinvar/308048 ^@ NM_005691.3(ABCC9):c.146G>C (p.Trp49Ser) http://identifiers.org/clinvar/308130 ^@ NM_000719.6(CACNA1C):c.579C>T (p.Asn193=) http://identifiers.org/clinvar/306911 ^@ NM_000277.1(PAH):c.*187G>A http://identifiers.org/clinvar/308132 ^@ NM_000719.6(CACNA1C):c.1002C>T (p.Pro334=) http://identifiers.org/clinvar/308060 ^@ NM_004985.4(KRAS):c.*4074G>A http://identifiers.org/clinvar/313909 ^@ NM_015346.3(ZFYVE26):c.2692A>T (p.Thr898Ser) http://identifiers.org/clinvar/325472 ^@ NM_001077620.2(PRCD):c.49C>T (p.Arg17Cys) http://identifiers.org/clinvar/306912 ^@ NM_000277.1(PAH):c.*79G>A http://identifiers.org/clinvar/325480 ^@ NM_001077620.2(PRCD):c.*578C>G http://identifiers.org/clinvar/306913 ^@ NM_000277.1(PAH):c.897T>C (p.Phe299=) http://identifiers.org/clinvar/325481 ^@ NM_001077620.2(PRCD):c.*590C>A http://identifiers.org/clinvar/308065 ^@ NM_004985.4(KRAS):c.*3786A>G http://identifiers.org/clinvar/313911 ^@ NM_015346.3(ZFYVE26):c.2427C>T (p.Gly809=) http://identifiers.org/clinvar/313916 ^@ NM_015346.3(ZFYVE26):c.2010C>G (p.His670Gln) http://identifiers.org/clinvar/308074 ^@ NM_004985.4(KRAS):c.*3454T>C http://identifiers.org/clinvar/308078 ^@ NM_004985.4(KRAS):c.*3202T>C http://identifiers.org/clinvar/308080 ^@ NM_004985.4(KRAS):c.*3148C>T http://identifiers.org/clinvar/308081 ^@ NM_004985.4(KRAS):c.*2971_*2974delGTAA http://identifiers.org/clinvar/325484 ^@ NM_001077620.2(PRCD):c.*643C>T http://identifiers.org/clinvar/325486 ^@ NM_001077620.2(PRCD):c.*760C>T http://identifiers.org/clinvar/308090 ^@ NM_004985.4(KRAS):c.*2270_*2271insC http://identifiers.org/clinvar/313917 ^@ NM_015346.3(ZFYVE26):c.1651C>G (p.Leu551Val) http://identifiers.org/clinvar/306921 ^@ NM_018082.5(POLR3B):c.-173C>T http://identifiers.org/clinvar/313926 ^@ NM_015346.3(ZFYVE26):c.443G>T (p.Arg148Leu) http://identifiers.org/clinvar/313928 ^@ NM_015346.3(ZFYVE26):c.397G>A (p.Gly133Ser) http://identifiers.org/clinvar/308092 ^@ NM_004985.4(KRAS):c.*2184A>G http://identifiers.org/clinvar/325489 ^@ NM_001077620.2(PRCD):c.*932C>T http://identifiers.org/clinvar/325493 ^@ NM_001077620.2(PRCD):c.*1186G>A http://identifiers.org/clinvar/306924 ^@ NM_018082.5(POLR3B):c.-39G>T http://identifiers.org/clinvar/306926 ^@ NM_018082.5(POLR3B):c.-1C>T http://identifiers.org/clinvar/306927 ^@ NM_018082.5(POLR3B):c.399C>T (p.Ile133=) http://identifiers.org/clinvar/325495 ^@ NM_001077620.2(PRCD):c.*1247C>A http://identifiers.org/clinvar/306936 ^@ NM_018082.5(POLR3B):c.1702A>G (p.Ile568Val) http://identifiers.org/clinvar/325496 ^@ NM_001077620.2(PRCD):c.*1259G>A http://identifiers.org/clinvar/308098 ^@ NM_004985.4(KRAS):c.*1705C>G http://identifiers.org/clinvar/313930 ^@ NM_015346.3(ZFYVE26):c.273+13A>G http://identifiers.org/clinvar/313936 ^@ NM_015346.3(ZFYVE26):c.6T>A (p.Asn2Lys) http://identifiers.org/clinvar/308102 ^@ NM_004985.4(KRAS):c.*1638A>G http://identifiers.org/clinvar/308105 ^@ NM_004985.4(KRAS):c.*1587T>C http://identifiers.org/clinvar/306939 ^@ NM_018082.5(POLR3B):c.1956-8C>T http://identifiers.org/clinvar/325501 ^@ NM_001077620.2(PRCD):c.*1410G>C http://identifiers.org/clinvar/313939 ^@ NM_000021.3(PSEN1):c.-241G>T http://identifiers.org/clinvar/306946 ^@ NM_018082.5(POLR3B):c.2843C>T (p.Ala948Val) http://identifiers.org/clinvar/313940 ^@ NM_000021.3(PSEN1):c.-226C>A http://identifiers.org/clinvar/325625 ^@ NM_000546.5(TP53):c.*790G>A http://identifiers.org/clinvar/325629 ^@ NM_000546.5(TP53):c.*754C>T http://identifiers.org/clinvar/313947 ^@ NM_000021.3(PSEN1):c.654A>G (p.Pro218=) http://identifiers.org/clinvar/313950 ^@ NM_000021.3(PSEN1):c.*23T>C http://identifiers.org/clinvar/325630 ^@ NM_000546.5(TP53):c.*747C>T http://identifiers.org/clinvar/306949 ^@ NM_018082.5(POLR3B):c.3087C>T (p.Ala1029=) http://identifiers.org/clinvar/306955 ^@ NM_018082.5(POLR3B):c.*347A>G http://identifiers.org/clinvar/308106 ^@ NM_004985.4(KRAS):c.*1540T>C http://identifiers.org/clinvar/313954 ^@ NM_000021.3(PSEN1):c.*313C>A http://identifiers.org/clinvar/313957 ^@ NM_000021.3(PSEN1):c.*595T>C http://identifiers.org/clinvar/325634 ^@ NM_000546.5(TP53):c.*569_*570delGT http://identifiers.org/clinvar/313960 ^@ NM_000021.3(PSEN1):c.*947G>A http://identifiers.org/clinvar/325639 ^@ NM_000546.5(TP53):c.*347T>C http://identifiers.org/clinvar/308110 ^@ NM_004985.4(KRAS):c.*1083A>G http://identifiers.org/clinvar/313961 ^@ NM_000021.3(PSEN1):c.*1145G>A http://identifiers.org/clinvar/325643 ^@ NM_000546.5(TP53):c.*99G>A http://identifiers.org/clinvar/313963 ^@ NM_000021.3(PSEN1):c.*1360G>C http://identifiers.org/clinvar/325647 ^@ NM_018081.2(WRAP53):c.-255G>A http://identifiers.org/clinvar/308116 ^@ NM_004985.4(KRAS):c.*550C>T http://identifiers.org/clinvar/313966 ^@ NM_000021.3(PSEN1):c.*1415C>A http://identifiers.org/clinvar/325648 ^@ NM_018081.2(WRAP53):c.-138C>T http://identifiers.org/clinvar/308120 ^@ NM_004985.4(KRAS):c.*370C>G http://identifiers.org/clinvar/308123 ^@ NM_004985.4(KRAS):c.*59A>G http://identifiers.org/clinvar/306963 ^@ NM_080911.2(UNG):c.-73C>T http://identifiers.org/clinvar/306969 ^@ NM_080911.2(UNG):c.204C>T (p.Ala68=) http://identifiers.org/clinvar/306977 ^@ NM_080911.2(UNG):c.759C>G (p.Leu253=) http://identifiers.org/clinvar/308124 ^@ NM_004985.4(KRAS):c.462T>C (p.Asp154=) http://identifiers.org/clinvar/325650 ^@ NM_018081.2(WRAP53):c.31C>T (p.Pro11Ser) http://identifiers.org/clinvar/313972 ^@ NM_000021.3(PSEN1):c.*1725A>G http://identifiers.org/clinvar/306979 ^@ NM_080911.2(UNG):c.*109A>G http://identifiers.org/clinvar/308126 ^@ NM_004985.4(KRAS):c.-170_-168dupCGG http://identifiers.org/clinvar/313973 ^@ NM_000021.3(PSEN1):c.*1791A>T http://identifiers.org/clinvar/325654 ^@ NM_018081.2(WRAP53):c.495C>T (p.Ser165=) http://identifiers.org/clinvar/325527 ^@ NM_006640.4(SEPT9):c.-780G>C http://identifiers.org/clinvar/306980 ^@ NM_080911.2(UNG):c.*111A>T http://identifiers.org/clinvar/325531 ^@ NM_006640.4(SEPT9):c.-366G>A http://identifiers.org/clinvar/308127 ^@ NM_004985.4(KRAS):c.-180G>A http://identifiers.org/clinvar/313974 ^@ NM_000021.3(PSEN1):c.*1792T>C http://identifiers.org/clinvar/306983 ^@ NM_080911.2(UNG):c.*313C>G http://identifiers.org/clinvar/325537 ^@ NM_006640.4(SEPT9):c.80G>A (p.Arg27Gln) http://identifiers.org/clinvar/313976 ^@ NM_000021.3(PSEN1):c.*1874G>T http://identifiers.org/clinvar/325543 ^@ NM_006640.4(SEPT9):c.380C>T (p.Pro127Leu) http://identifiers.org/clinvar/308143 ^@ NM_000719.6(CACNA1C):c.3330C>T (p.Thr1110=) http://identifiers.org/clinvar/308144 ^@ NM_000719.6(CACNA1C):c.3368G>A (p.Arg1123His) http://identifiers.org/clinvar/306985 ^@ NM_080911.2(UNG):c.*500C>G http://identifiers.org/clinvar/306989 ^@ NM_080911.2(UNG):c.*611C>T http://identifiers.org/clinvar/308146 ^@ NM_000719.6(CACNA1C):c.3681C>T (p.Val1227=) http://identifiers.org/clinvar/313978 ^@ NM_000021.3(PSEN1):c.*2108G>A http://identifiers.org/clinvar/313983 ^@ NM_000021.3(PSEN1):c.*2401C>T http://identifiers.org/clinvar/325546 ^@ NM_006640.4(SEPT9):c.484G>A (p.Ala162Thr) http://identifiers.org/clinvar/313992 ^@ NM_000021.3(PSEN1):c.*3037_*3038delCT http://identifiers.org/clinvar/313993 ^@ NM_000021.3(PSEN1):c.*3199C>T http://identifiers.org/clinvar/325550 ^@ NM_006640.4(SEPT9):c.858C>T (p.Val286=) http://identifiers.org/clinvar/306993 ^@ NM_080911.2(UNG):c.*719G>A http://identifiers.org/clinvar/308148 ^@ NM_000719.6(CACNA1C):c.3718-12C>T http://identifiers.org/clinvar/308154 ^@ NM_000719.6(CACNA1C):c.4623+13G>A http://identifiers.org/clinvar/308155 ^@ NM_000719.6(CACNA1C):c.4624-4G>A http://identifiers.org/clinvar/306995 ^@ NM_080911.2(UNG):c.*880_*881dupAT http://identifiers.org/clinvar/313999 ^@ NM_000021.3(PSEN1):c.*3637C>T http://identifiers.org/clinvar/325554 ^@ NM_006640.4(SEPT9):c.988G>A (p.Asp330Asn) http://identifiers.org/clinvar/308156 ^@ NM_000719.6(CACNA1C):c.4726+9G>A http://identifiers.org/clinvar/306998 ^@ NM_080911.2(UNG):c.*1013T>A http://identifiers.org/clinvar/325557 ^@ NM_006640.4(SEPT9):c.1071-10C>T http://identifiers.org/clinvar/325561 ^@ NM_006640.4(SEPT9):c.1284G>A (p.Ala428=) http://identifiers.org/clinvar/314000 ^@ NM_000021.3(PSEN1):c.*3722C>T http://identifiers.org/clinvar/325562 ^@ NM_006640.4(SEPT9):c.1392G>A (p.Ser464=) http://identifiers.org/clinvar/307000 ^@ NM_052845.3(MMAB):c.*3265A>G http://identifiers.org/clinvar/325570 ^@ NM_006640.4(SEPT9):c.*5dupC http://identifiers.org/clinvar/325592 ^@ NM_006640.4(SEPT9):c.*657T>C http://identifiers.org/clinvar/307002 ^@ NM_052845.3(MMAB):c.*3152A>T http://identifiers.org/clinvar/314001 ^@ NM_000021.3(PSEN1):c.*3823G>A http://identifiers.org/clinvar/325593 ^@ NM_006640.4(SEPT9):c.*709C>T http://identifiers.org/clinvar/308161 ^@ NM_000719.6(CACNA1C):c.5525A>C (p.Asn1842Thr) http://identifiers.org/clinvar/325594 ^@ NM_006640.4(SEPT9):c.*718C>G http://identifiers.org/clinvar/325605 ^@ NM_006640.4(SEPT9):c.*989T>A http://identifiers.org/clinvar/325607 ^@ NM_006640.4(SEPT9):c.*1130_*1131insAAG http://identifiers.org/clinvar/307003 ^@ NM_052845.3(MMAB):c.*3148G>A http://identifiers.org/clinvar/307010 ^@ NM_052845.3(MMAB):c.*2684G>C http://identifiers.org/clinvar/314002 ^@ NM_000021.3(PSEN1):c.*3848G>C http://identifiers.org/clinvar/314003 ^@ NM_000021.3(PSEN1):c.*3889G>A http://identifiers.org/clinvar/308162 ^@ NM_000719.6(CACNA1C):c.5785-10G>A http://identifiers.org/clinvar/325614 ^@ NM_006640.4(SEPT9):c.*1720T>C http://identifiers.org/clinvar/308166 ^@ NM_000719.6(CACNA1C):c.*184G>A http://identifiers.org/clinvar/314008 ^@ NM_000021.3(PSEN1):c.*4147T>G http://identifiers.org/clinvar/307020 ^@ NM_052845.3(MMAB):c.*1873_*1874dupTA http://identifiers.org/clinvar/325617 ^@ NM_006640.4(SEPT9):c.*1896A>G http://identifiers.org/clinvar/307026 ^@ NM_052845.3(MMAB):c.*1729A>C http://identifiers.org/clinvar/307031 ^@ NM_052845.3(MMAB):c.*1577_*1578delAA http://identifiers.org/clinvar/314010 ^@ NM_000021.3(PSEN1):c.*4367T>C http://identifiers.org/clinvar/314013 ^@ NM_031427.3(DNAL1):c.-92A>T http://identifiers.org/clinvar/325670 ^@ NM_138793.3(CANT1):c.*1428_*1431delGAAG http://identifiers.org/clinvar/307035 ^@ NM_052845.3(MMAB):c.*1535G>A http://identifiers.org/clinvar/314017 ^@ NM_031427.3(DNAL1):c.243C>T (p.Asn81=) http://identifiers.org/clinvar/307036 ^@ NM_052845.3(MMAB):c.*1467C>T http://identifiers.org/clinvar/314018 ^@ NM_031427.3(DNAL1):c.490G>A (p.Glu164Lys) http://identifiers.org/clinvar/325672 ^@ NM_138793.3(CANT1):c.*1264_*1265dupGG http://identifiers.org/clinvar/325677 ^@ NM_138793.3(CANT1):c.*998G>C http://identifiers.org/clinvar/308169 ^@ NM_000719.6(CACNA1C):c.*284C>T http://identifiers.org/clinvar/325680 ^@ NM_138793.3(CANT1):c.*876G>A http://identifiers.org/clinvar/307040 ^@ NM_052845.3(MMAB):c.*1121C>T http://identifiers.org/clinvar/314021 ^@ NM_031427.3(DNAL1):c.*56A>C http://identifiers.org/clinvar/314022 ^@ NM_031427.3(DNAL1):c.*144dupT http://identifiers.org/clinvar/314024 ^@ NM_031427.3(DNAL1):c.*200C>G http://identifiers.org/clinvar/314026 ^@ NM_031427.3(DNAL1):c.*334delT http://identifiers.org/clinvar/308171 ^@ NM_000719.6(CACNA1C):c.*297C>A http://identifiers.org/clinvar/325681 ^@ NM_138793.3(CANT1):c.*847C>T http://identifiers.org/clinvar/325683 ^@ NM_138793.3(CANT1):c.*813G>C http://identifiers.org/clinvar/314027 ^@ NM_031427.3(DNAL1):c.*353dupT http://identifiers.org/clinvar/314028 ^@ NM_031427.3(DNAL1):c.*411C>T http://identifiers.org/clinvar/307046 ^@ NM_052845.3(MMAB):c.*891C>A http://identifiers.org/clinvar/308173 ^@ NM_000719.6(CACNA1C):c.*630G>A http://identifiers.org/clinvar/308174 ^@ NM_000719.6(CACNA1C):c.*659_*660insGAAGGGGCCGCCGG http://identifiers.org/clinvar/307047 ^@ NM_052845.3(MMAB):c.*857G>C http://identifiers.org/clinvar/314038 ^@ NM_031427.3(DNAL1):c.*1626C>T http://identifiers.org/clinvar/325684 ^@ NM_138793.3(CANT1):c.*753C>A http://identifiers.org/clinvar/308177 ^@ NM_000719.6(CACNA1C):c.*828G>A http://identifiers.org/clinvar/307054 ^@ NM_052845.3(MMAB):c.*564G>C http://identifiers.org/clinvar/307057 ^@ NM_052845.3(MMAB):c.*404T>G http://identifiers.org/clinvar/325686 ^@ NM_138793.3(CANT1):c.*664T>C http://identifiers.org/clinvar/307058 ^@ NM_052845.3(MMAB):c.*386_*387dupAG http://identifiers.org/clinvar/307060 ^@ NM_052845.3(MMAB):c.*380A>T http://identifiers.org/clinvar/308179 ^@ NM_000719.6(CACNA1C):c.*896A>T http://identifiers.org/clinvar/308180 ^@ NM_000719.6(CACNA1C):c.*960A>G http://identifiers.org/clinvar/325689 ^@ NM_138793.3(CANT1):c.*450A>G http://identifiers.org/clinvar/307062 ^@ NM_052845.3(MMAB):c.*376_*379dupTGTG http://identifiers.org/clinvar/307076 ^@ NM_052845.3(MMAB):c.678T>C (p.Tyr226=) http://identifiers.org/clinvar/307082 ^@ NM_052845.3(MMAB):c.-4G>C http://identifiers.org/clinvar/308183 ^@ NM_000719.6(CACNA1C):c.*1125G>A http://identifiers.org/clinvar/325694 ^@ NM_138793.3(CANT1):c.*89G>A http://identifiers.org/clinvar/314041 ^@ NM_031427.3(DNAL1):c.*1753A>G http://identifiers.org/clinvar/325699 ^@ NM_138793.3(CANT1):c.835+10G>C http://identifiers.org/clinvar/314043 ^@ NM_031427.3(DNAL1):c.*1823delA http://identifiers.org/clinvar/325701 ^@ NM_138793.3(CANT1):c.809G>A (p.Arg270Gln) http://identifiers.org/clinvar/314045 ^@ NM_031427.3(DNAL1):c.*1824delG http://identifiers.org/clinvar/325702 ^@ NM_138793.3(CANT1):c.556G>A (p.Val186Ile) http://identifiers.org/clinvar/325703 ^@ NM_138793.3(CANT1):c.433G>T (p.Val145Leu) http://identifiers.org/clinvar/325710 ^@ NM_138793.3(CANT1):c.-139T>C http://identifiers.org/clinvar/308184 ^@ NM_000719.6(CACNA1C):c.*1151C>T http://identifiers.org/clinvar/308196 ^@ NM_000719.6(CACNA1C):c.*2309C>T http://identifiers.org/clinvar/308208 ^@ NM_000719.6(CACNA1C):c.*2857G>A http://identifiers.org/clinvar/325713 ^@ NM_138793.3(CANT1):c.-276G>A http://identifiers.org/clinvar/308210 ^@ NM_000719.6(CACNA1C):c.*3031T>A http://identifiers.org/clinvar/325715 ^@ NM_138793.3(CANT1):c.-322C>A http://identifiers.org/clinvar/307083 ^@ NM_052845.3(MMAB):c.-9G>T http://identifiers.org/clinvar/314051 ^@ NM_031427.3(DNAL1):c.*1977T>C http://identifiers.org/clinvar/307087 ^@ NM_000431.3(MVK):c.-55G>C http://identifiers.org/clinvar/308211 ^@ NM_000719.6(CACNA1C):c.*3042A>G http://identifiers.org/clinvar/308214 ^@ NM_000719.6(CACNA1C):c.*3178A>T http://identifiers.org/clinvar/307088 ^@ NM_000431.3(MVK):c.-33G>A http://identifiers.org/clinvar/325716 ^@ NM_138793.3(CANT1):c.-341-15C>T http://identifiers.org/clinvar/325722 ^@ NM_017950.3(CCDC40):c.257A>G (p.Tyr86Cys) http://identifiers.org/clinvar/307089 ^@ NM_000431.3(MVK):c.-15G>A http://identifiers.org/clinvar/308218 ^@ NM_000719.6(CACNA1C):c.*3611C>T http://identifiers.org/clinvar/325723 ^@ NM_017950.3(CCDC40):c.388G>A (p.Asp130Asn) http://identifiers.org/clinvar/325724 ^@ NM_017950.3(CCDC40):c.506C>T (p.Ser169Leu) http://identifiers.org/clinvar/325726 ^@ NM_017950.3(CCDC40):c.598G>A (p.Val200Ile) http://identifiers.org/clinvar/308219 ^@ NM_000719.6(CACNA1C):c.*3687A>C http://identifiers.org/clinvar/314052 ^@ NM_031427.3(DNAL1):c.*2002T>C http://identifiers.org/clinvar/307092 ^@ NM_000431.3(MVK):c.302G>A (p.Cys101Tyr) http://identifiers.org/clinvar/314053 ^@ NM_031427.3(DNAL1):c.*2021_*2023delCTT http://identifiers.org/clinvar/308220 ^@ NM_000719.6(CACNA1C):c.*3722C>T http://identifiers.org/clinvar/325727 ^@ NM_017950.3(CCDC40):c.966C>T (p.Ala322=) http://identifiers.org/clinvar/314054 ^@ NM_031427.3(DNAL1):c.*2073A>G http://identifiers.org/clinvar/325729 ^@ NM_017950.3(CCDC40):c.1440+15C>T http://identifiers.org/clinvar/308223 ^@ NM_000719.6(CACNA1C):c.*3832A>C http://identifiers.org/clinvar/325730 ^@ NM_017950.3(CCDC40):c.1459G>A (p.Ala487Thr) http://identifiers.org/clinvar/325731 ^@ NM_017950.3(CCDC40):c.1468G>A (p.Val490Met) http://identifiers.org/clinvar/314065 ^@ NM_031427.3(DNAL1):c.*2600_*2604delGTTTG http://identifiers.org/clinvar/325735 ^@ NM_017950.3(CCDC40):c.1806+15G>A http://identifiers.org/clinvar/325737 ^@ NM_017950.3(CCDC40):c.1897C>T (p.Arg633Trp) http://identifiers.org/clinvar/307099 ^@ NM_000431.3(MVK):c.780C>A (p.Ile260=) http://identifiers.org/clinvar/314072 ^@ NM_031427.3(DNAL1):c.*3295T>C http://identifiers.org/clinvar/325739 ^@ NM_017950.3(CCDC40):c.2169C>T (p.Ile723=) http://identifiers.org/clinvar/314074 ^@ NM_031427.3(DNAL1):c.*3526G>A http://identifiers.org/clinvar/325740 ^@ NM_017950.3(CCDC40):c.2236-15G>A http://identifiers.org/clinvar/308225 ^@ NM_000719.6(CACNA1C):c.*3903delT http://identifiers.org/clinvar/308226 ^@ NM_000719.6(CACNA1C):c.*3951G>C http://identifiers.org/clinvar/314079 ^@ NM_031427.3(DNAL1):c.*3605G>A http://identifiers.org/clinvar/325742 ^@ NM_017950.3(CCDC40):c.2387C>G (p.Ala796Gly) http://identifiers.org/clinvar/325744 ^@ NM_017950.3(CCDC40):c.2832+4A>T http://identifiers.org/clinvar/314088 ^@ NM_031427.3(DNAL1):c.*4318G>A http://identifiers.org/clinvar/325747 ^@ NM_017950.3(CCDC40):c.3013G>A (p.Val1005Ile) http://identifiers.org/clinvar/325749 ^@ NM_017950.3(CCDC40):c.3338G>T (p.Arg1113Leu) http://identifiers.org/clinvar/308228 ^@ NM_000719.6(CACNA1C):c.*4050G>A http://identifiers.org/clinvar/308232 ^@ NM_000719.6(CACNA1C):c.*4198A>G http://identifiers.org/clinvar/314089 ^@ NM_031427.3(DNAL1):c.*4405C>T http://identifiers.org/clinvar/314090 ^@ NM_031427.3(DNAL1):c.*4406G>A http://identifiers.org/clinvar/314097 ^@ NM_031427.3(DNAL1):c.*4853G>A http://identifiers.org/clinvar/308237 ^@ NM_000719.6(CACNA1C):c.*4299C>A http://identifiers.org/clinvar/325755 ^@ NM_017950.3(CCDC40):c.*199G>A http://identifiers.org/clinvar/314104 ^@ NM_031427.3(DNAL1):c.*5441delA http://identifiers.org/clinvar/325757 ^@ NM_017950.3(CCDC40):c.*220C>T http://identifiers.org/clinvar/307102 ^@ NM_000431.3(MVK):c.*58dupG http://identifiers.org/clinvar/314107 ^@ NM_031427.3(DNAL1):c.*5784A>G http://identifiers.org/clinvar/307105 ^@ NM_000431.3(MVK):c.*332C>T http://identifiers.org/clinvar/314108 ^@ NM_031427.3(DNAL1):c.*5786G>A http://identifiers.org/clinvar/307113 ^@ NM_021625.4(TRPV4):c.*423G>A http://identifiers.org/clinvar/308239 ^@ NM_000719.6(CACNA1C):c.*4345C>T http://identifiers.org/clinvar/325758 ^@ NM_017950.3(CCDC40):c.*265C>T http://identifiers.org/clinvar/325760 ^@ NM_017950.3(CCDC40):c.*347C>T http://identifiers.org/clinvar/314120 ^@ NM_031427.3(DNAL1):c.*6158_*6163delTGTGTG http://identifiers.org/clinvar/314118 ^@ NM_031427.3(DNAL1):c.*6158_*6163dupTGTGTG http://identifiers.org/clinvar/308248 ^@ NM_000719.6(CACNA1C):c.*4611T>G http://identifiers.org/clinvar/314117 ^@ NM_031427.3(DNAL1):c.*6160_*6163dupTGTG http://identifiers.org/clinvar/325775 ^@ NM_000152.4(GAA):c.197G>A (p.Arg66Gln) http://identifiers.org/clinvar/325778 ^@ NM_000152.4(GAA):c.503G>A (p.Arg168Gln) http://identifiers.org/clinvar/314131 ^@ NM_031427.3(DNAL1):c.*6292G>A http://identifiers.org/clinvar/308251 ^@ NM_000719.6(CACNA1C):c.*4831T>A http://identifiers.org/clinvar/307114 ^@ NM_021625.4(TRPV4):c.*405G>A http://identifiers.org/clinvar/325782 ^@ NM_000152.4(GAA):c.761C>T (p.Ser254Leu) http://identifiers.org/clinvar/307126 ^@ NM_021625.4(TRPV4):c.1825-15C>G http://identifiers.org/clinvar/314135 ^@ NM_031427.3(DNAL1):c.*6392T>G http://identifiers.org/clinvar/314136 ^@ NM_031427.3(DNAL1):c.*6478G>A http://identifiers.org/clinvar/325784 ^@ NM_000152.4(GAA):c.955+14C>A http://identifiers.org/clinvar/314139 ^@ NM_031427.3(DNAL1):c.*6858T>C http://identifiers.org/clinvar/325791 ^@ NM_000152.4(GAA):c.2307G>C (p.Leu769Phe) http://identifiers.org/clinvar/308253 ^@ NM_000719.6(CACNA1C):c.*5261A>G http://identifiers.org/clinvar/314141 ^@ NM_031427.3(DNAL1):c.*6894A>C http://identifiers.org/clinvar/325793 ^@ NM_000152.4(GAA):c.2330C>T (p.Thr777Met) http://identifiers.org/clinvar/308257 ^@ NM_000719.6(CACNA1C):c.*5549A>C http://identifiers.org/clinvar/314147 ^@ NM_031427.3(DNAL1):c.*7335A>G http://identifiers.org/clinvar/325794 ^@ NM_000152.4(GAA):c.2672G>C (p.Arg891Pro) http://identifiers.org/clinvar/307130 ^@ NM_021625.4(TRPV4):c.1455C>T (p.Phe485=) http://identifiers.org/clinvar/308259 ^@ NM_000719.6(CACNA1C):c.*5599A>G http://identifiers.org/clinvar/308263 ^@ NM_000719.6(CACNA1C):c.*5859C>T http://identifiers.org/clinvar/314150 ^@ NM_031427.3(DNAL1):c.*7388G>A http://identifiers.org/clinvar/325796 ^@ NM_000152.4(GAA):c.2800-11C>G http://identifiers.org/clinvar/325798 ^@ NM_000152.4(GAA):c.2842C>T (p.Leu948Phe) http://identifiers.org/clinvar/308264 ^@ NM_000719.6(CACNA1C):c.*5889G>A http://identifiers.org/clinvar/308275 ^@ NM_000719.6(CACNA1C):c.*6591A>G http://identifiers.org/clinvar/314152 ^@ NM_031427.3(DNAL1):c.*7578C>T http://identifiers.org/clinvar/308276 ^@ NM_139241.3(FGD4):c.-447T>C http://identifiers.org/clinvar/314159 ^@ NM_005589.3(ALDH6A1):c.*433C>T http://identifiers.org/clinvar/325805 ^@ NM_000152.4(GAA):c.*309C>T http://identifiers.org/clinvar/314160 ^@ NM_005589.3(ALDH6A1):c.*403T>G http://identifiers.org/clinvar/314164 ^@ NM_005589.3(ALDH6A1):c.*234C>T http://identifiers.org/clinvar/325806 ^@ NM_000152.4(GAA):c.*419G>T http://identifiers.org/clinvar/314173 ^@ NM_005589.3(ALDH6A1):c.1221C>G (p.Val407=) http://identifiers.org/clinvar/314175 ^@ NM_005589.3(ALDH6A1):c.853-3dupT http://identifiers.org/clinvar/314187 ^@ NM_005589.3(ALDH6A1):c.112-14T>G http://identifiers.org/clinvar/325815 ^@ NM_000199.3(SGSH):c.*840A>G http://identifiers.org/clinvar/314188 ^@ NM_005589.3(ALDH6A1):c.-59A>C http://identifiers.org/clinvar/314189 ^@ NM_182894.2(VSX2):c.-68G>C http://identifiers.org/clinvar/325822 ^@ NM_000199.3(SGSH):c.*309G>A http://identifiers.org/clinvar/314190 ^@ NM_182894.2(VSX2):c.-54G>A http://identifiers.org/clinvar/314193 ^@ NM_182894.2(VSX2):c.306C>A (p.Ser102Arg) http://identifiers.org/clinvar/325824 ^@ NM_000199.3(SGSH):c.*126G>A http://identifiers.org/clinvar/314196 ^@ NM_182894.2(VSX2):c.750G>A (p.Pro250=) http://identifiers.org/clinvar/325825 ^@ NM_000199.3(SGSH):c.*69C>T http://identifiers.org/clinvar/314205 ^@ NM_182894.2(VSX2):c.*13T>G http://identifiers.org/clinvar/314209 ^@ NM_182894.2(VSX2):c.*156G>A http://identifiers.org/clinvar/307138 ^@ NM_021625.4(TRPV4):c.650C>T (p.Ala217Val) http://identifiers.org/clinvar/307142 ^@ NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr) http://identifiers.org/clinvar/314215 ^@ NM_182894.2(VSX2):c.*775A>G http://identifiers.org/clinvar/308288 ^@ NM_139241.3(FGD4):c.569T>C (p.Leu190Pro) http://identifiers.org/clinvar/314217 ^@ NM_182894.2(VSX2):c.*1029T>A http://identifiers.org/clinvar/325826 ^@ NM_000199.3(SGSH):c.1462G>A (p.Glu488Lys) http://identifiers.org/clinvar/308289 ^@ NM_139241.3(FGD4):c.732G>A (p.Ser244=) http://identifiers.org/clinvar/325833 ^@ NM_000199.3(SGSH):c.1134C>T (p.Ser378=) http://identifiers.org/clinvar/308298 ^@ NM_139241.3(FGD4):c.1515T>C (p.Ser505=) http://identifiers.org/clinvar/307144 ^@ NM_021625.4(TRPV4):c.171T>C (p.Pro57=) http://identifiers.org/clinvar/308299 ^@ NM_139241.3(FGD4):c.1636-7T>C http://identifiers.org/clinvar/314218 ^@ NM_182894.2(VSX2):c.*1074C>T http://identifiers.org/clinvar/308302 ^@ NM_139241.3(FGD4):c.*290G>A http://identifiers.org/clinvar/307146 ^@ NM_001681.3(ATP2A2):c.-500T>C http://identifiers.org/clinvar/307148 ^@ NM_001681.3(ATP2A2):c.-476C>T http://identifiers.org/clinvar/307149 ^@ NM_001681.3(ATP2A2):c.-403C>G http://identifiers.org/clinvar/325838 ^@ NM_000199.3(SGSH):c.718T>A (p.Tyr240Asn) http://identifiers.org/clinvar/314219 ^@ NM_182894.2(VSX2):c.*1161C>A http://identifiers.org/clinvar/314228 ^@ NM_182894.2(VSX2):c.*1548_*1549delTT http://identifiers.org/clinvar/307150 ^@ NM_001681.3(ATP2A2):c.-335C>A http://identifiers.org/clinvar/325841 ^@ NM_000199.3(SGSH):c.637C>A (p.Gln213Lys) http://identifiers.org/clinvar/314237 ^@ NM_006432.3(NPC2):c.*237G>A http://identifiers.org/clinvar/308303 ^@ NM_139241.3(FGD4):c.*411A>G http://identifiers.org/clinvar/307152 ^@ NM_001681.3(ATP2A2):c.-311G>T http://identifiers.org/clinvar/314238 ^@ NM_006432.3(NPC2):c.363+7G>A http://identifiers.org/clinvar/314256 ^@ NM_000428.2(LTBP2):c.*638T>G http://identifiers.org/clinvar/314257 ^@ NM_000428.2(LTBP2):c.*373A>G http://identifiers.org/clinvar/314258 ^@ NM_000428.2(LTBP2):c.*233A>G http://identifiers.org/clinvar/307160 ^@ NM_001681.3(ATP2A2):c.94C>T (p.Leu32Phe) http://identifiers.org/clinvar/307167 ^@ NM_001681.3(ATP2A2):c.555C>G (p.Val185=) http://identifiers.org/clinvar/325844 ^@ NM_000199.3(SGSH):c.276C>G (p.His92Gln) http://identifiers.org/clinvar/308314 ^@ NM_139241.3(FGD4):c.*1160G>A http://identifiers.org/clinvar/325867 ^@ NM_001139.2(ALOX12B):c.*101A>G http://identifiers.org/clinvar/325875 ^@ NM_001139.2(ALOX12B):c.1570G>A (p.Asp524Asn) http://identifiers.org/clinvar/325876 ^@ NM_001139.2(ALOX12B):c.1565C>T (p.Pro522Leu) http://identifiers.org/clinvar/325878 ^@ NM_001139.2(ALOX12B):c.1532+15G>T http://identifiers.org/clinvar/308318 ^@ NM_139241.3(FGD4):c.*1454A>G http://identifiers.org/clinvar/314266 ^@ NM_000428.2(LTBP2):c.5270G>T (p.Cys1757Phe) http://identifiers.org/clinvar/314268 ^@ NM_000428.2(LTBP2):c.4964A>G (p.Tyr1655Cys) http://identifiers.org/clinvar/307171 ^@ NM_001681.3(ATP2A2):c.1323A>G (p.Thr441=) http://identifiers.org/clinvar/307177 ^@ NM_001681.3(ATP2A2):c.2058C>T (p.Ile686=) http://identifiers.org/clinvar/325884 ^@ NM_001139.2(ALOX12B):c.1040C>T (p.Pro347Leu) http://identifiers.org/clinvar/325887 ^@ NM_001139.2(ALOX12B):c.567C>A (p.Asn189Lys) http://identifiers.org/clinvar/308322 ^@ NM_139241.3(FGD4):c.*1723C>T http://identifiers.org/clinvar/314272 ^@ NM_000428.2(LTBP2):c.4516G>A (p.Val1506Met) http://identifiers.org/clinvar/307181 ^@ NM_001681.3(ATP2A2):c.2521+4A>C http://identifiers.org/clinvar/325915 ^@ NM_001139.2(ALOX12B):c.324C>T (p.Tyr108=) http://identifiers.org/clinvar/314273 ^@ NM_000428.2(LTBP2):c.4476C>T (p.Phe1492=) http://identifiers.org/clinvar/314279 ^@ NM_000428.2(LTBP2):c.3851G>A (p.Arg1284His) http://identifiers.org/clinvar/325927 ^@ NM_001139.2(ALOX12B):c.135T>C (p.Phe45=) http://identifiers.org/clinvar/314280 ^@ NM_000428.2(LTBP2):c.3753C>T (p.Ser1251=) http://identifiers.org/clinvar/314281 ^@ NM_000428.2(LTBP2):c.3558C>T (p.Cys1186=) http://identifiers.org/clinvar/314289 ^@ NM_000428.2(LTBP2):c.2885T>C (p.Met962Thr) http://identifiers.org/clinvar/307182 ^@ NM_001681.3(ATP2A2):c.2556A>C (p.Ala852=) http://identifiers.org/clinvar/314291 ^@ NM_000428.2(LTBP2):c.2852C>T (p.Ser951Leu) http://identifiers.org/clinvar/314297 ^@ NM_000428.2(LTBP2):c.2657C>A (p.Thr886Lys) http://identifiers.org/clinvar/307186 ^@ NM_001681.3(ATP2A2):c.2945C>T (p.Thr982Met) http://identifiers.org/clinvar/314306 ^@ NM_000428.2(LTBP2):c.1760C>T (p.Thr587Ile) http://identifiers.org/clinvar/325936 ^@ NM_001139.2(ALOX12B):c.-158G>T http://identifiers.org/clinvar/325945 ^@ NM_021628.2(ALOXE3):c.*514T>G http://identifiers.org/clinvar/308324 ^@ NM_139241.3(FGD4):c.*1828A>T http://identifiers.org/clinvar/308329 ^@ NM_139241.3(FGD4):c.*2103A>G http://identifiers.org/clinvar/307187 ^@ NM_001681.3(ATP2A2):c.2982A>C (p.Ala994=) http://identifiers.org/clinvar/308334 ^@ NM_139241.3(FGD4):c.*2638A>G http://identifiers.org/clinvar/325949 ^@ NM_021628.2(ALOXE3):c.*356A>C http://identifiers.org/clinvar/307196 ^@ NM_001681.3(ATP2A2):c.*743G>A http://identifiers.org/clinvar/307206 ^@ NM_001082538.2(TCTN1):c.364C>A (p.Gln122Lys) http://identifiers.org/clinvar/325950 ^@ NM_021628.2(ALOXE3):c.*314T>A http://identifiers.org/clinvar/325957 ^@ NM_021628.2(ALOXE3):c.2008C>T (p.Arg670Trp) http://identifiers.org/clinvar/314308 ^@ NM_000428.2(LTBP2):c.1656C>T (p.Gly552=) http://identifiers.org/clinvar/325960 ^@ NM_021628.2(ALOXE3):c.1764C>T (p.His588=) http://identifiers.org/clinvar/325961 ^@ NM_021628.2(ALOXE3):c.1710A>G (p.Pro570=) http://identifiers.org/clinvar/308336 ^@ NM_139241.3(FGD4):c.*2928_*2931delTATC http://identifiers.org/clinvar/308339 ^@ NM_139241.3(FGD4):c.*3121_*3122dupTA http://identifiers.org/clinvar/308341 ^@ NM_139241.3(FGD4):c.*3130G>A http://identifiers.org/clinvar/307210 ^@ NM_001082538.2(TCTN1):c.1676C>T (p.Ala559Val) http://identifiers.org/clinvar/307213 ^@ NM_000432.3(MYL2):c.302A>G (p.Asn101Ser) http://identifiers.org/clinvar/308342 ^@ NM_139241.3(FGD4):c.*3130G>T http://identifiers.org/clinvar/308345 ^@ NM_139241.3(FGD4):c.*3340A>C http://identifiers.org/clinvar/325963 ^@ NM_021628.2(ALOXE3):c.1696C>T (p.Arg566Trp) http://identifiers.org/clinvar/325966 ^@ NM_021628.2(ALOXE3):c.1555A>G (p.Ile519Val) http://identifiers.org/clinvar/314310 ^@ NM_000428.2(LTBP2):c.1485G>A (p.Arg495=) http://identifiers.org/clinvar/308350 ^@ NM_139241.3(FGD4):c.*3676A>G http://identifiers.org/clinvar/325975 ^@ NM_021628.2(ALOXE3):c.650C>T (p.Thr217Met) http://identifiers.org/clinvar/314313 ^@ NM_000428.2(LTBP2):c.1097G>A (p.Arg366His) http://identifiers.org/clinvar/308354 ^@ NM_139241.3(FGD4):c.*3905A>G http://identifiers.org/clinvar/325977 ^@ NM_021628.2(ALOXE3):c.222C>T (p.Tyr74=) http://identifiers.org/clinvar/314315 ^@ NM_000428.2(LTBP2):c.818C>T (p.Ser273Leu) http://identifiers.org/clinvar/325979 ^@ NM_021628.2(ALOXE3):c.-260G>A http://identifiers.org/clinvar/325850 ^@ NM_002602.3(PDE6G):c.*570T>C http://identifiers.org/clinvar/314319 ^@ NM_000428.2(LTBP2):c.10C>T (p.Arg4Trp) http://identifiers.org/clinvar/314327 ^@ NM_000428.2(LTBP2):c.-232G>A http://identifiers.org/clinvar/314328 ^@ NM_014239.3(EIF2B2):c.-60A>G http://identifiers.org/clinvar/325853 ^@ NM_002602.3(PDE6G):c.*420G>A http://identifiers.org/clinvar/325855 ^@ NM_002602.3(PDE6G):c.*393C>T http://identifiers.org/clinvar/307221 ^@ NM_002834.4(PTPN11):c.-245C>G http://identifiers.org/clinvar/325856 ^@ NM_002602.3(PDE6G):c.*316G>A http://identifiers.org/clinvar/308357 ^@ NM_139241.3(FGD4):c.*4128C>T http://identifiers.org/clinvar/314332 ^@ NM_014239.3(EIF2B2):c.434-11C>T http://identifiers.org/clinvar/325862 ^@ NM_002602.3(PDE6G):c.-57C>G http://identifiers.org/clinvar/307224 ^@ NM_002834.4(PTPN11):c.14+8G>T http://identifiers.org/clinvar/307226 ^@ NM_002834.4(PTPN11):c.951G>A (p.Lys317=) http://identifiers.org/clinvar/307232 ^@ NM_002834.4(PTPN11):c.*687C>T http://identifiers.org/clinvar/325892 ^@ NM_006907.3(PYCR1):c.*746C>T http://identifiers.org/clinvar/314333 ^@ NM_014239.3(EIF2B2):c.462G>A (p.Gln154=) http://identifiers.org/clinvar/308361 ^@ NM_139241.3(FGD4):c.*4438A>G http://identifiers.org/clinvar/307237 ^@ NM_002834.4(PTPN11):c.*1015C>G http://identifiers.org/clinvar/308363 ^@ NM_139241.3(FGD4):c.*4497G>A http://identifiers.org/clinvar/308367 ^@ NM_139241.3(FGD4):c.*4831C>T http://identifiers.org/clinvar/314341 ^@ NM_014239.3(EIF2B2):c.*169C>T http://identifiers.org/clinvar/325900 ^@ NM_006907.3(PYCR1):c.*68C>T http://identifiers.org/clinvar/325909 ^@ NM_006907.3(PYCR1):c.348G>A (p.Arg116=) http://identifiers.org/clinvar/314347 ^@ NM_001040108.1(MLH3):c.*3105C>G http://identifiers.org/clinvar/325914 ^@ NM_006907.3(PYCR1):c.164A>T (p.His55Leu) http://identifiers.org/clinvar/325920 ^@ NM_006907.3(PYCR1):c.-48G>C http://identifiers.org/clinvar/308372 ^@ NM_139241.3(FGD4):c.*4991A>G http://identifiers.org/clinvar/307242 ^@ NM_002834.4(PTPN11):c.*1196_*1201delATGATG http://identifiers.org/clinvar/325924 ^@ NM_006907.3(PYCR1):c.-250C>T http://identifiers.org/clinvar/307240 ^@ NM_002834.4(PTPN11):c.*1199_*1201delATG http://identifiers.org/clinvar/314348 ^@ NM_001040108.1(MLH3):c.*3048delC http://identifiers.org/clinvar/325985 ^@ NM_025099.5(CTC1):c.*3231A>G http://identifiers.org/clinvar/308374 ^@ NM_139241.3(FGD4):c.*5072A>G http://identifiers.org/clinvar/307243 ^@ NM_002834.4(PTPN11):c.*1332G>A http://identifiers.org/clinvar/314350 ^@ NM_001040108.1(MLH3):c.*2590T>C http://identifiers.org/clinvar/314352 ^@ NM_001040108.1(MLH3):c.*2174C>T http://identifiers.org/clinvar/308380 ^@ NM_139241.3(FGD4):c.*5309C>T http://identifiers.org/clinvar/314354 ^@ NM_001040108.1(MLH3):c.*1990T>A http://identifiers.org/clinvar/325989 ^@ NM_025099.5(CTC1):c.*2370_*2371delAT http://identifiers.org/clinvar/325995 ^@ NM_025099.5(CTC1):c.*2087A>G http://identifiers.org/clinvar/308393 ^@ NM_012062.4(DNM1L):c.2157A>G (p.Ala719=) http://identifiers.org/clinvar/314360 ^@ NM_001040108.1(MLH3):c.*1347T>G http://identifiers.org/clinvar/314361 ^@ NM_001040108.1(MLH3):c.*1341delC http://identifiers.org/clinvar/314374 ^@ NM_001040108.1(MLH3):c.3576C>T (p.Leu1192=) http://identifiers.org/clinvar/308395 ^@ NM_012062.4(DNM1L):c.*21_*22delGAinsCT http://identifiers.org/clinvar/308397 ^@ NM_012062.4(DNM1L):c.*48T>C http://identifiers.org/clinvar/308398 ^@ NM_012062.4(DNM1L):c.*128A>G http://identifiers.org/clinvar/307249 ^@ NM_002834.4(PTPN11):c.*1805C>T http://identifiers.org/clinvar/307252 ^@ NM_002834.4(PTPN11):c.*2493C>T http://identifiers.org/clinvar/308399 ^@ NM_012062.4(DNM1L):c.*156A>C http://identifiers.org/clinvar/307253 ^@ NM_002834.4(PTPN11):c.*2540G>T http://identifiers.org/clinvar/314394 ^@ NM_001040108.1(MLH3):c.-4T>G http://identifiers.org/clinvar/307263 ^@ NM_002834.4(PTPN11):c.*3381A>G http://identifiers.org/clinvar/314396 ^@ NM_001040108.1(MLH3):c.-63-10dupT http://identifiers.org/clinvar/325998 ^@ NM_025099.5(CTC1):c.*1997dupT http://identifiers.org/clinvar/314398 ^@ NM_001040108.1(MLH3):c.-133C>G http://identifiers.org/clinvar/307264 ^@ NM_002834.4(PTPN11):c.*3720T>C http://identifiers.org/clinvar/307266 ^@ NM_000192.3(TBX5):c.*1511G>A http://identifiers.org/clinvar/314400 ^@ NM_001040108.1(MLH3):c.-202A>C http://identifiers.org/clinvar/308400 ^@ NM_012062.4(DNM1L):c.*271C>G http://identifiers.org/clinvar/325999 ^@ NM_025099.5(CTC1):c.*1960C>G http://identifiers.org/clinvar/307267 ^@ NM_000192.3(TBX5):c.*1477_*1480delAAGT http://identifiers.org/clinvar/308407 ^@ NM_012062.4(DNM1L):c.*535T>G http://identifiers.org/clinvar/326004 ^@ NM_025099.5(CTC1):c.*1861A>G http://identifiers.org/clinvar/307268 ^@ NM_000192.3(TBX5):c.*1446T>G http://identifiers.org/clinvar/314414 ^@ NM_017791.2(FLVCR2):c.905C>A (p.Ala302Asp) http://identifiers.org/clinvar/314415 ^@ NM_017791.2(FLVCR2):c.947C>G (p.Thr316Ser) http://identifiers.org/clinvar/307272 ^@ NM_000192.3(TBX5):c.*1196T>C http://identifiers.org/clinvar/307273 ^@ NM_000192.3(TBX5):c.*1188T>C http://identifiers.org/clinvar/314417 ^@ NM_017791.2(FLVCR2):c.1326C>T (p.Leu442=) http://identifiers.org/clinvar/326006 ^@ NM_025099.5(CTC1):c.*1856C>T http://identifiers.org/clinvar/326007 ^@ NM_025099.5(CTC1):c.*1853G>A http://identifiers.org/clinvar/308410 ^@ NM_012062.4(DNM1L):c.*1072G>C http://identifiers.org/clinvar/308412 ^@ NM_012062.4(DNM1L):c.*1110C>T http://identifiers.org/clinvar/307278 ^@ NM_000192.3(TBX5):c.*909A>G http://identifiers.org/clinvar/326008 ^@ NM_025099.5(CTC1):c.*1852G>A http://identifiers.org/clinvar/326009 ^@ NM_025099.5(CTC1):c.*1844G>C http://identifiers.org/clinvar/308415 ^@ NM_012062.4(DNM1L):c.*1193C>T http://identifiers.org/clinvar/308417 ^@ NM_012062.4(DNM1L):c.*1239G>A http://identifiers.org/clinvar/308421 ^@ NM_012062.4(DNM1L):c.*1316T>C http://identifiers.org/clinvar/307285 ^@ NM_000192.3(TBX5):c.*755_*759delTGCCAinsGAATAAGATGCTGGGCTCTTATTCAGCTGG http://identifiers.org/clinvar/307286 ^@ NM_000192.3(TBX5):c.*739T>C http://identifiers.org/clinvar/314428 ^@ NM_017791.2(FLVCR2):c.*756A>G http://identifiers.org/clinvar/308425 ^@ NM_012062.4(DNM1L):c.*1415T>C http://identifiers.org/clinvar/308429 ^@ NM_012062.4(DNM1L):c.*1538delC http://identifiers.org/clinvar/308432 ^@ NM_012062.4(DNM1L):c.*1842A>G http://identifiers.org/clinvar/307287 ^@ NM_000192.3(TBX5):c.*718G>A http://identifiers.org/clinvar/314435 ^@ NM_017791.2(FLVCR2):c.*1633A>C http://identifiers.org/clinvar/314439 ^@ NM_003239.4(TGFB3):c.*696T>C http://identifiers.org/clinvar/326018 ^@ NM_025099.5(CTC1):c.*1565A>G http://identifiers.org/clinvar/314440 ^@ NM_003239.4(TGFB3):c.*666A>G http://identifiers.org/clinvar/308433 ^@ NM_012062.4(DNM1L):c.*1872G>A http://identifiers.org/clinvar/326019 ^@ NM_025099.5(CTC1):c.*1542C>G http://identifiers.org/clinvar/307288 ^@ NM_000192.3(TBX5):c.*702T>C http://identifiers.org/clinvar/307289 ^@ NM_000192.3(TBX5):c.*673C>T http://identifiers.org/clinvar/307293 ^@ NM_000192.3(TBX5):c.*524A>T http://identifiers.org/clinvar/307294 ^@ NM_000192.3(TBX5):c.*480G>A http://identifiers.org/clinvar/307295 ^@ NM_000192.3(TBX5):c.*384T>C http://identifiers.org/clinvar/326025 ^@ NM_025099.5(CTC1):c.*1477G>T http://identifiers.org/clinvar/314447 ^@ NM_003239.4(TGFB3):c.1230A>G (p.Lys410=) http://identifiers.org/clinvar/314449 ^@ NM_003239.4(TGFB3):c.646+13T>C http://identifiers.org/clinvar/314451 ^@ NM_003239.4(TGFB3):c.498G>A (p.Gln166=) http://identifiers.org/clinvar/314452 ^@ NM_003239.4(TGFB3):c.353-14G>T http://identifiers.org/clinvar/307298 ^@ NM_000192.3(TBX5):c.*147T>C http://identifiers.org/clinvar/326029 ^@ NM_025099.5(CTC1):c.*1473C>G http://identifiers.org/clinvar/326032 ^@ NM_025099.5(CTC1):c.*1205T>G http://identifiers.org/clinvar/314457 ^@ NM_003239.4(TGFB3):c.-434_-432delCTT http://identifiers.org/clinvar/326035 ^@ NM_025099.5(CTC1):c.*1191T>A http://identifiers.org/clinvar/326044 ^@ NM_025099.5(CTC1):c.*1107A>G http://identifiers.org/clinvar/314463 ^@ NM_003239.4(TGFB3):c.-707C>G http://identifiers.org/clinvar/326046 ^@ NM_025099.5(CTC1):c.*1102C>T http://identifiers.org/clinvar/308442 ^@ NM_001040436.2(YARS2):c.*360A>G http://identifiers.org/clinvar/307299 ^@ NM_000192.3(TBX5):c.*129A>G http://identifiers.org/clinvar/326049 ^@ NM_025099.5(CTC1):c.*825C>T http://identifiers.org/clinvar/308444 ^@ NM_001040436.2(YARS2):c.*209G>C http://identifiers.org/clinvar/326053 ^@ NM_025099.5(CTC1):c.*536T>G http://identifiers.org/clinvar/308455 ^@ NM_001040436.2(YARS2):c.930G>A (p.Pro310=) http://identifiers.org/clinvar/326056 ^@ NM_025099.5(CTC1):c.*275G>A http://identifiers.org/clinvar/307305 ^@ NM_000192.3(TBX5):c.846C>T (p.Ser282=) http://identifiers.org/clinvar/314464 ^@ NM_003239.4(TGFB3):c.-756T>A http://identifiers.org/clinvar/307306 ^@ NM_000192.3(TBX5):c.791G>A (p.Arg264Lys) http://identifiers.org/clinvar/308458 ^@ NM_001040436.2(YARS2):c.819A>G (p.Leu273=) http://identifiers.org/clinvar/307311 ^@ NM_000192.3(TBX5):c.57A>G (p.Ala19=) http://identifiers.org/clinvar/326061 ^@ NM_025099.5(CTC1):c.*64T>G http://identifiers.org/clinvar/314468 ^@ NM_052873.2(IFT43):c.136C>T (p.Leu46=) http://identifiers.org/clinvar/308460 ^@ NM_001040436.2(YARS2):c.572G>T (p.Gly191Val) http://identifiers.org/clinvar/307313 ^@ NM_000192.3(TBX5):c.-39+12C>A http://identifiers.org/clinvar/308461 ^@ NM_001040436.2(YARS2):c.535A>C (p.Lys179Gln) http://identifiers.org/clinvar/307320 ^@ NM_000192.3(TBX5):c.-586C>G http://identifiers.org/clinvar/308466 ^@ NM_001040436.2(YARS2):c.30C>T (p.Ser10=) http://identifiers.org/clinvar/314471 ^@ NM_052873.2(IFT43):c.504G>A (p.Pro168=) http://identifiers.org/clinvar/326064 ^@ NM_025099.5(CTC1):c.3524G>A (p.Arg1175Gln) http://identifiers.org/clinvar/326077 ^@ NM_025099.5(CTC1):c.1795C>T (p.Pro599Ser) http://identifiers.org/clinvar/314475 ^@ NM_004452.3(ESRRB):c.-300A>G http://identifiers.org/clinvar/314478 ^@ NM_004452.3(ESRRB):c.-211A>G http://identifiers.org/clinvar/314480 ^@ NM_004452.3(ESRRB):c.-113T>C http://identifiers.org/clinvar/314484 ^@ NM_004452.3(ESRRB):c.417C>T (p.Cys139=) http://identifiers.org/clinvar/326086 ^@ NM_025099.5(CTC1):c.444C>A (p.Asp148Glu) http://identifiers.org/clinvar/314490 ^@ NM_004452.3(ESRRB):c.*71G>A http://identifiers.org/clinvar/314491 ^@ NM_004452.3(ESRRB):c.*119G>A http://identifiers.org/clinvar/308468 ^@ NM_004572.3(PKP2):c.*1563G>T http://identifiers.org/clinvar/308469 ^@ NM_004572.3(PKP2):c.*1431G>A http://identifiers.org/clinvar/308473 ^@ NM_004572.3(PKP2):c.*1220A>G http://identifiers.org/clinvar/307325 ^@ NM_005996.3(TBX3):c.*1510A>G http://identifiers.org/clinvar/308474 ^@ NM_004572.3(PKP2):c.*1199delT http://identifiers.org/clinvar/314497 ^@ NM_004452.3(ESRRB):c.*649G>A http://identifiers.org/clinvar/314499 ^@ NM_004452.3(ESRRB):c.*682C>A http://identifiers.org/clinvar/314504 ^@ NM_004452.3(ESRRB):c.*1068C>T http://identifiers.org/clinvar/308480 ^@ NM_004572.3(PKP2):c.*953C>A http://identifiers.org/clinvar/308485 ^@ NM_004572.3(PKP2):c.*812C>T http://identifiers.org/clinvar/307326 ^@ NM_005996.3(TBX3):c.*1382G>C http://identifiers.org/clinvar/314509 ^@ NM_013382.5(POMT2):c.*2160T>C http://identifiers.org/clinvar/307327 ^@ NM_005996.3(TBX3):c.*1340G>A http://identifiers.org/clinvar/307331 ^@ NM_005996.3(TBX3):c.*1224T>C http://identifiers.org/clinvar/308488 ^@ NM_004572.3(PKP2):c.*646G>A http://identifiers.org/clinvar/326089 ^@ NM_025099.5(CTC1):c.126A>G (p.Val42=) http://identifiers.org/clinvar/314513 ^@ NM_013382.5(POMT2):c.*2072C>T http://identifiers.org/clinvar/307332 ^@ NM_005996.3(TBX3):c.*1187G>A http://identifiers.org/clinvar/326094 ^@ NM_006796.2(AFG3L2):c.*585A>C http://identifiers.org/clinvar/326097 ^@ NM_006796.2(AFG3L2):c.*326G>A http://identifiers.org/clinvar/308491 ^@ NM_004572.3(PKP2):c.*579C>A http://identifiers.org/clinvar/308494 ^@ NM_004572.3(PKP2):c.*320C>A http://identifiers.org/clinvar/307333 ^@ NM_005996.3(TBX3):c.*1181G>A http://identifiers.org/clinvar/326098 ^@ NM_006796.2(AFG3L2):c.*311C>T http://identifiers.org/clinvar/314515 ^@ NM_013382.5(POMT2):c.*1967C>T http://identifiers.org/clinvar/308495 ^@ NM_004572.3(PKP2):c.*281A>G http://identifiers.org/clinvar/307342 ^@ NM_005996.3(TBX3):c.*403_*404delAA http://identifiers.org/clinvar/326103 ^@ NM_006796.2(AFG3L2):c.2175+14G>A http://identifiers.org/clinvar/326107 ^@ NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) http://identifiers.org/clinvar/314518 ^@ NM_013382.5(POMT2):c.*1749C>A http://identifiers.org/clinvar/326111 ^@ NM_006796.2(AFG3L2):c.215-5A>C http://identifiers.org/clinvar/308499 ^@ NM_004572.3(PKP2):c.*215G>A http://identifiers.org/clinvar/308500 ^@ NM_004572.3(PKP2):c.*180C>G http://identifiers.org/clinvar/326128 ^@ NM_000529.2(MC2R):c.*2138G>T http://identifiers.org/clinvar/307346 ^@ NM_005996.3(TBX3):c.*245C>T http://identifiers.org/clinvar/308504 ^@ NM_004572.3(PKP2):c.*22G>A http://identifiers.org/clinvar/314534 ^@ NM_013382.5(POMT2):c.*1053A>G http://identifiers.org/clinvar/307347 ^@ NM_005996.3(TBX3):c.*132G>A http://identifiers.org/clinvar/314538 ^@ NM_013382.5(POMT2):c.*693C>G http://identifiers.org/clinvar/307354 ^@ NM_005996.3(TBX3):c.2004G>A (p.Ser668=) http://identifiers.org/clinvar/326138 ^@ NM_000529.2(MC2R):c.*1604G>C http://identifiers.org/clinvar/307362 ^@ NM_005996.3(TBX3):c.1653C>T (p.Ser551=) http://identifiers.org/clinvar/326141 ^@ NM_000529.2(MC2R):c.*1452A>G http://identifiers.org/clinvar/307363 ^@ NM_005996.3(TBX3):c.1625C>T (p.Ala542Val) http://identifiers.org/clinvar/314539 ^@ NM_013382.5(POMT2):c.*682_*683delAG http://identifiers.org/clinvar/326142 ^@ NM_000529.2(MC2R):c.*1390G>A http://identifiers.org/clinvar/314543 ^@ NM_013382.5(POMT2):c.*597C>T http://identifiers.org/clinvar/307365 ^@ NM_005996.3(TBX3):c.1250A>G (p.His417Arg) http://identifiers.org/clinvar/308507 ^@ NM_004572.3(PKP2):c.1972-5G>C http://identifiers.org/clinvar/308508 ^@ NM_004572.3(PKP2):c.1490G>A (p.Arg497Gln) http://identifiers.org/clinvar/307370 ^@ NM_005996.3(TBX3):c.1011C>T (p.Ala337=) http://identifiers.org/clinvar/307371 ^@ NM_005996.3(TBX3):c.881+14_881+17delATTA http://identifiers.org/clinvar/307375 ^@ NM_005996.3(TBX3):c.390-9G>A http://identifiers.org/clinvar/307379 ^@ NM_005996.3(TBX3):c.-29G>T http://identifiers.org/clinvar/326148 ^@ NM_000529.2(MC2R):c.*1049_*1050delAT http://identifiers.org/clinvar/314545 ^@ NM_013382.5(POMT2):c.*587G>A http://identifiers.org/clinvar/326149 ^@ NM_000529.2(MC2R):c.*1045_*1050delGTGTAT http://identifiers.org/clinvar/314546 ^@ NM_013382.5(POMT2):c.*433T>C http://identifiers.org/clinvar/326152 ^@ NM_000529.2(MC2R):c.*1047_*1048delGT http://identifiers.org/clinvar/307383 ^@ NM_005996.3(TBX3):c.-184C>T http://identifiers.org/clinvar/308515 ^@ NM_004572.3(PKP2):c.489C>T (p.His163=) http://identifiers.org/clinvar/308516 ^@ NM_004572.3(PKP2):c.470A>T (p.Glu157Val) http://identifiers.org/clinvar/308526 ^@ NM_017641.3(KIF21A):c.*1157A>T http://identifiers.org/clinvar/308527 ^@ NM_017641.3(KIF21A):c.*1022A>T http://identifiers.org/clinvar/314549 ^@ NM_013382.5(POMT2):c.*196G>A http://identifiers.org/clinvar/307386 ^@ NM_005996.3(TBX3):c.-251G>A http://identifiers.org/clinvar/314553 ^@ NM_013382.5(POMT2):c.*15T>C http://identifiers.org/clinvar/308535 ^@ NM_017641.3(KIF21A):c.*690T>C http://identifiers.org/clinvar/326151 ^@ NM_000529.2(MC2R):c.*1045_*1048dupGTGT http://identifiers.org/clinvar/308541 ^@ NM_017641.3(KIF21A):c.*326T>A http://identifiers.org/clinvar/308542 ^@ NM_017641.3(KIF21A):c.*237A>G http://identifiers.org/clinvar/326155 ^@ NM_000529.2(MC2R):c.*1012T>A http://identifiers.org/clinvar/314557 ^@ NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) http://identifiers.org/clinvar/326161 ^@ NM_000529.2(MC2R):c.*996_*999delAGTG http://identifiers.org/clinvar/314560 ^@ NM_013382.5(POMT2):c.648C>T (p.Cys216=) http://identifiers.org/clinvar/307387 ^@ NM_005996.3(TBX3):c.-275A>G http://identifiers.org/clinvar/307395 ^@ NM_005996.3(TBX3):c.-507G>T http://identifiers.org/clinvar/314561 ^@ NM_013382.5(POMT2):c.631G>A (p.Val211Ile) http://identifiers.org/clinvar/308543 ^@ NM_017641.3(KIF21A):c.*211C>G http://identifiers.org/clinvar/326167 ^@ NM_000529.2(MC2R):c.*963_*968delCAGACA http://identifiers.org/clinvar/307396 ^@ NM_005996.3(TBX3):c.-517_-514delCGAG http://identifiers.org/clinvar/314562 ^@ NM_013382.5(POMT2):c.553G>A (p.Gly185Arg) http://identifiers.org/clinvar/326170 ^@ NM_000529.2(MC2R):c.*880C>T http://identifiers.org/clinvar/326175 ^@ NM_000529.2(MC2R):c.*615C>T http://identifiers.org/clinvar/307399 ^@ NM_005996.3(TBX3):c.-591delT http://identifiers.org/clinvar/314563 ^@ NM_013382.5(POMT2):c.-56G>A http://identifiers.org/clinvar/308544 ^@ NM_017641.3(KIF21A):c.4922G>T (p.Arg1641Leu) http://identifiers.org/clinvar/308550 ^@ NM_017641.3(KIF21A):c.4489A>C (p.Ile1497Leu) http://identifiers.org/clinvar/307398 ^@ NM_005996.3(TBX3):c.-591dupT http://identifiers.org/clinvar/326177 ^@ NM_000529.2(MC2R):c.*578C>A http://identifiers.org/clinvar/314576 ^@ NM_004863.3(SPTLC2):c.*5395C>G http://identifiers.org/clinvar/326180 ^@ NM_000529.2(MC2R):c.*470G>A http://identifiers.org/clinvar/314577 ^@ NM_004863.3(SPTLC2):c.*5358T>C http://identifiers.org/clinvar/326184 ^@ NM_000529.2(MC2R):c.*401delC http://identifiers.org/clinvar/326187 ^@ NM_000529.2(MC2R):c.*216G>A http://identifiers.org/clinvar/326200 ^@ NM_000529.2(MC2R):c.-117A>T http://identifiers.org/clinvar/314578 ^@ NM_004863.3(SPTLC2):c.*5357A>G http://identifiers.org/clinvar/308556 ^@ NM_017641.3(KIF21A):c.3833C>A (p.Thr1278Asn) http://identifiers.org/clinvar/326204 ^@ NM_002894.2(RBBP8):c.-265C>T http://identifiers.org/clinvar/314582 ^@ NM_004863.3(SPTLC2):c.*4825C>T http://identifiers.org/clinvar/314583 ^@ NM_004863.3(SPTLC2):c.*4755C>T http://identifiers.org/clinvar/308561 ^@ NM_017641.3(KIF21A):c.3281-4A>T http://identifiers.org/clinvar/314584 ^@ NM_004863.3(SPTLC2):c.*4673_*4674insTG http://identifiers.org/clinvar/326207 ^@ NM_002894.2(RBBP8):c.-250G>A http://identifiers.org/clinvar/314589 ^@ NM_004863.3(SPTLC2):c.*4446G>T http://identifiers.org/clinvar/326211 ^@ NM_002894.2(RBBP8):c.-180G>A http://identifiers.org/clinvar/326224 ^@ NM_002894.2(RBBP8):c.1260T>C (p.Asn420=) http://identifiers.org/clinvar/308569 ^@ NM_017641.3(KIF21A):c.2496T>A (p.Ala832=) http://identifiers.org/clinvar/314592 ^@ NM_004863.3(SPTLC2):c.*4198C>T http://identifiers.org/clinvar/308570 ^@ NM_017641.3(KIF21A):c.2453C>T (p.Thr818Met) http://identifiers.org/clinvar/308573 ^@ NM_017641.3(KIF21A):c.2271+10A>G http://identifiers.org/clinvar/308577 ^@ NM_017641.3(KIF21A):c.1737G>A (p.Ser579=) http://identifiers.org/clinvar/307408 ^@ NM_005996.3(TBX3):c.-910C>G http://identifiers.org/clinvar/326225 ^@ NM_002894.2(RBBP8):c.1290T>A (p.Thr430=) http://identifiers.org/clinvar/326226 ^@ NM_002894.2(RBBP8):c.1386A>G (p.Gln462=) http://identifiers.org/clinvar/308581 ^@ NM_017641.3(KIF21A):c.1469+10A>G http://identifiers.org/clinvar/314595 ^@ NM_004863.3(SPTLC2):c.*4089delA http://identifiers.org/clinvar/307410 ^@ NM_014365.2(HSPB8):c.-480C>G http://identifiers.org/clinvar/314600 ^@ NM_004863.3(SPTLC2):c.*3813G>A http://identifiers.org/clinvar/326234 ^@ NM_002894.2(RBBP8):c.2516G>A (p.Arg839Gln) http://identifiers.org/clinvar/308586 ^@ NM_017641.3(KIF21A):c.975T>C (p.Asp325=) http://identifiers.org/clinvar/314603 ^@ NM_004863.3(SPTLC2):c.*3637G>A http://identifiers.org/clinvar/326237 ^@ NM_002894.2(RBBP8):c.*168T>A http://identifiers.org/clinvar/314610 ^@ NM_004863.3(SPTLC2):c.*3315C>G http://identifiers.org/clinvar/307414 ^@ NM_014365.2(HSPB8):c.-193T>C http://identifiers.org/clinvar/326243 ^@ NM_000271.4(NPC1):c.*309_*315delTGTAAAG http://identifiers.org/clinvar/314612 ^@ NM_004863.3(SPTLC2):c.*3224C>T http://identifiers.org/clinvar/308590 ^@ NM_017641.3(KIF21A):c.578G>A (p.Arg193His) http://identifiers.org/clinvar/308601 ^@ NM_017641.3(KIF21A):c.-210C>T http://identifiers.org/clinvar/326264 ^@ NM_000271.4(NPC1):c.2269G>A (p.Val757Met) http://identifiers.org/clinvar/307421 ^@ NM_014365.2(HSPB8):c.*440C>G http://identifiers.org/clinvar/326270 ^@ NM_000271.4(NPC1):c.1947+12G>T http://identifiers.org/clinvar/308617 ^@ NM_198578.3(LRRK2):c.2501-9dupT http://identifiers.org/clinvar/307427 ^@ NM_014365.2(HSPB8):c.*648A>G http://identifiers.org/clinvar/326273 ^@ NM_000271.4(NPC1):c.1947+6C>G http://identifiers.org/clinvar/314619 ^@ NM_004863.3(SPTLC2):c.*2794C>T http://identifiers.org/clinvar/308620 ^@ NM_198578.3(LRRK2):c.2826T>C (p.His942=) http://identifiers.org/clinvar/314628 ^@ NM_004863.3(SPTLC2):c.*2302A>G http://identifiers.org/clinvar/326275 ^@ NM_000271.4(NPC1):c.946A>G (p.Ser316Gly) http://identifiers.org/clinvar/326276 ^@ NM_000271.4(NPC1):c.799G>A (p.Ala267Thr) http://identifiers.org/clinvar/307430 ^@ NM_014365.2(HSPB8):c.*803T>C http://identifiers.org/clinvar/307432 ^@ NM_014365.2(HSPB8):c.*866_*871dupTAATAA http://identifiers.org/clinvar/314629 ^@ NM_004863.3(SPTLC2):c.*2275C>T http://identifiers.org/clinvar/326280 ^@ NM_000271.4(NPC1):c.180+13T>C http://identifiers.org/clinvar/314630 ^@ NM_004863.3(SPTLC2):c.*2186A>G http://identifiers.org/clinvar/308624 ^@ NM_198578.3(LRRK2):c.3429C>T (p.Ser1143=) http://identifiers.org/clinvar/307435 ^@ NM_000017.3(ACADS):c.336C>T (p.Thr112=) http://identifiers.org/clinvar/326285 ^@ NM_000271.4(NPC1):c.-100C>G http://identifiers.org/clinvar/314634 ^@ NM_004863.3(SPTLC2):c.*1832T>C http://identifiers.org/clinvar/314635 ^@ NM_004863.3(SPTLC2):c.*1742C>T http://identifiers.org/clinvar/308628 ^@ NM_198578.3(LRRK2):c.3678A>C (p.Leu1226Phe) http://identifiers.org/clinvar/314637 ^@ NM_004863.3(SPTLC2):c.*1709G>A http://identifiers.org/clinvar/314645 ^@ NM_004863.3(SPTLC2):c.*1134T>C http://identifiers.org/clinvar/326288 ^@ NM_000271.4(NPC1):c.-179C>T http://identifiers.org/clinvar/308650 ^@ NM_198578.3(LRRK2):c.*96T>C http://identifiers.org/clinvar/308651 ^@ NM_198578.3(LRRK2):c.*123A>C http://identifiers.org/clinvar/326293 ^@ NM_000227.4(LAMA3):c.128A>C (p.Gln43Pro) http://identifiers.org/clinvar/314650 ^@ NM_004863.3(SPTLC2):c.*809C>A http://identifiers.org/clinvar/314655 ^@ NM_004863.3(SPTLC2):c.*536T>G http://identifiers.org/clinvar/308665 ^@ NM_198578.3(LRRK2):c.*934_*936dupTTT http://identifiers.org/clinvar/326295 ^@ NM_000227.4(LAMA3):c.342T>C (p.Tyr114=) http://identifiers.org/clinvar/307438 ^@ NM_000017.3(ACADS):c.624+8C>T http://identifiers.org/clinvar/314662 ^@ NM_004863.3(SPTLC2):c.*100G>A http://identifiers.org/clinvar/326296 ^@ NM_000227.4(LAMA3):c.396-13G>C http://identifiers.org/clinvar/326300 ^@ NM_000227.4(LAMA3):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/326302 ^@ NM_000227.4(LAMA3):c.786+15_786+20delGCCGAG http://identifiers.org/clinvar/314672 ^@ NM_004863.3(SPTLC2):c.786T>C (p.Asn262=) http://identifiers.org/clinvar/307439 ^@ NM_000017.3(ACADS):c.624+11C>T http://identifiers.org/clinvar/314676 ^@ NM_004863.3(SPTLC2):c.723G>A (p.Thr241=) http://identifiers.org/clinvar/307440 ^@ NM_000017.3(ACADS):c.796-14G>C http://identifiers.org/clinvar/314688 ^@ NM_004863.3(SPTLC2):c.-187C>T http://identifiers.org/clinvar/307444 ^@ NM_000017.3(ACADS):c.*91G>T http://identifiers.org/clinvar/314689 ^@ NM_000369.2(TSHR):c.-60G>A http://identifiers.org/clinvar/314691 ^@ NM_000369.2(TSHR):c.171-11T>C http://identifiers.org/clinvar/326303 ^@ NM_000227.4(LAMA3):c.794T>C (p.Leu265Ser) http://identifiers.org/clinvar/307448 ^@ NM_000017.3(ACADS):c.*249G>A http://identifiers.org/clinvar/314694 ^@ NM_000369.2(TSHR):c.615-6C>G http://identifiers.org/clinvar/307449 ^@ NM_000017.3(ACADS):c.*266G>T http://identifiers.org/clinvar/308668 ^@ NM_198578.3(LRRK2):c.*979T>C http://identifiers.org/clinvar/308674 ^@ NM_198578.3(LRRK2):c.*1182C>T http://identifiers.org/clinvar/308678 ^@ NM_198578.3(LRRK2):c.*1446T>A http://identifiers.org/clinvar/307450 ^@ NM_000017.3(ACADS):c.*310C>G http://identifiers.org/clinvar/308681 ^@ NM_153026.2(PRICKLE1):c.*1394G>A http://identifiers.org/clinvar/308687 ^@ NM_153026.2(PRICKLE1):c.*983C>A http://identifiers.org/clinvar/308690 ^@ NM_153026.2(PRICKLE1):c.*614G>A http://identifiers.org/clinvar/308693 ^@ NM_153026.2(PRICKLE1):c.*546A>C http://identifiers.org/clinvar/314695 ^@ NM_000369.2(TSHR):c.692+3G>A http://identifiers.org/clinvar/308696 ^@ NM_153026.2(PRICKLE1):c.*398G>T http://identifiers.org/clinvar/314714 ^@ NM_000369.2(TSHR):c.*1152T>A http://identifiers.org/clinvar/326304 ^@ NM_000227.4(LAMA3):c.946C>T (p.Arg316Trp) http://identifiers.org/clinvar/314716 ^@ NM_000369.2(TSHR):c.*1222G>C http://identifiers.org/clinvar/308697 ^@ NM_153026.2(PRICKLE1):c.*261T>C http://identifiers.org/clinvar/326306 ^@ NM_000227.4(LAMA3):c.1170G>A (p.Ser390=) http://identifiers.org/clinvar/307455 ^@ NM_000545.6(HNF1A):c.30G>A (p.Thr10=) http://identifiers.org/clinvar/314717 ^@ NM_000369.2(TSHR):c.*1289A>G http://identifiers.org/clinvar/326309 ^@ NM_000227.4(LAMA3):c.1682G>C (p.Arg561Pro) http://identifiers.org/clinvar/308707 ^@ NM_153026.2(PRICKLE1):c.649T>C (p.Cys217Arg) http://identifiers.org/clinvar/326321 ^@ NM_000227.4(LAMA3):c.2766G>A (p.Leu922=) http://identifiers.org/clinvar/326323 ^@ NM_000227.4(LAMA3):c.2970C>T (p.Asp990=) http://identifiers.org/clinvar/326324 ^@ NM_000227.4(LAMA3):c.3101G>T (p.Arg1034Leu) http://identifiers.org/clinvar/314732 ^@ NM_000153.3(GALC):c.*1186_*1188delGAT http://identifiers.org/clinvar/307463 ^@ NM_000545.6(HNF1A):c.*170C>T http://identifiers.org/clinvar/314733 ^@ NM_000153.3(GALC):c.*1126G>A http://identifiers.org/clinvar/326325 ^@ NM_000227.4(LAMA3):c.3268G>A (p.Val1090Ile) http://identifiers.org/clinvar/314739 ^@ NM_000153.3(GALC):c.*626C>T http://identifiers.org/clinvar/326330 ^@ NM_000227.4(LAMA3):c.3451T>G (p.Cys1151Gly) http://identifiers.org/clinvar/314744 ^@ NM_000153.3(GALC):c.2001A>C (p.Gly667=) http://identifiers.org/clinvar/314747 ^@ NM_000153.3(GALC):c.1573G>A (p.Glu525Lys) http://identifiers.org/clinvar/307466 ^@ NM_000545.6(HNF1A):c.*267T>C http://identifiers.org/clinvar/326331 ^@ NM_000227.4(LAMA3):c.3455C>T (p.Ser1152Leu) http://identifiers.org/clinvar/326338 ^@ NM_000227.4(LAMA3):c.3837C>T (p.Gly1279=) http://identifiers.org/clinvar/314748 ^@ NM_000153.3(GALC):c.1418G>A (p.Arg473His) http://identifiers.org/clinvar/326343 ^@ NM_000227.4(LAMA3):c.4201T>G (p.Ser1401Ala) http://identifiers.org/clinvar/326351 ^@ NM_000227.4(LAMA3):c.*48T>A http://identifiers.org/clinvar/314749 ^@ NM_000153.3(GALC):c.1376A>G (p.His459Arg) http://identifiers.org/clinvar/314762 ^@ NM_000153.3(GALC):c.53C>T (p.Thr18Ile) http://identifiers.org/clinvar/308710 ^@ NM_153026.2(PRICKLE1):c.-40G>A http://identifiers.org/clinvar/307474 ^@ NM_000545.6(HNF1A):c.*1071G>T http://identifiers.org/clinvar/326354 ^@ NM_000227.4(LAMA3):c.*126A>G http://identifiers.org/clinvar/326546 ^@ NM_014646.2(LPIN2):c.*3068A>T http://identifiers.org/clinvar/308715 ^@ NM_153026.2(PRICKLE1):c.-204G>A http://identifiers.org/clinvar/308717 ^@ NM_153026.2(PRICKLE1):c.-238C>G http://identifiers.org/clinvar/307475 ^@ NM_000545.6(HNF1A):c.*1268G>A http://identifiers.org/clinvar/308720 ^@ NM_153026.2(PRICKLE1):c.-287C>G http://identifiers.org/clinvar/314764 ^@ NM_000153.3(GALC):c.28T>C (p.Trp10Arg) http://identifiers.org/clinvar/314781 ^@ NM_018418.4(SPATA7):c.387G>A (p.Pro129=) http://identifiers.org/clinvar/308772 ^@ NM_020638.2(FGF23):c.*2062A>C http://identifiers.org/clinvar/314788 ^@ NM_018418.4(SPATA7):c.1220A>T (p.Lys407Ile) http://identifiers.org/clinvar/308773 ^@ NM_020638.2(FGF23):c.*1971T>C http://identifiers.org/clinvar/326548 ^@ NM_014646.2(LPIN2):c.*2999C>A http://identifiers.org/clinvar/314792 ^@ NM_018418.4(SPATA7):c.1622T>C (p.Ile541Thr) http://identifiers.org/clinvar/308792 ^@ NM_020638.2(FGF23):c.*369_*372delAAAA http://identifiers.org/clinvar/314796 ^@ NM_198309.3(TTC8):c.-38C>A http://identifiers.org/clinvar/308800 ^@ NM_020638.2(FGF23):c.*29C>G http://identifiers.org/clinvar/308803 ^@ NM_020638.2(FGF23):c.716C>T (p.Thr239Met) http://identifiers.org/clinvar/307482 ^@ NM_002150.2(HPD):c.836G>A (p.Arg279His) http://identifiers.org/clinvar/326555 ^@ NM_014646.2(LPIN2):c.*2833_*2834delCA http://identifiers.org/clinvar/314805 ^@ NM_198309.3(TTC8):c.1461C>T (p.Asp487=) http://identifiers.org/clinvar/307489 ^@ NM_002150.2(HPD):c.94-6A>T http://identifiers.org/clinvar/326558 ^@ NM_014646.2(LPIN2):c.*2787C>G http://identifiers.org/clinvar/314812 ^@ NM_018319.3(TDP1):c.-278C>T http://identifiers.org/clinvar/314814 ^@ NM_018319.3(TDP1):c.-232A>C http://identifiers.org/clinvar/308805 ^@ NM_020638.2(FGF23):c.551A>G (p.Asp184Gly) http://identifiers.org/clinvar/307492 ^@ NM_152269.4(C12orf65):c.-206G>T http://identifiers.org/clinvar/308807 ^@ NM_020638.2(FGF23):c.331G>A (p.Glu111Lys) http://identifiers.org/clinvar/307493 ^@ NM_152269.4(C12orf65):c.-128C>T http://identifiers.org/clinvar/308722 ^@ NM_016123.3(IRAK4):c.-66G>A http://identifiers.org/clinvar/307494 ^@ NM_152269.4(C12orf65):c.34C>T (p.Pro12Ser) http://identifiers.org/clinvar/307495 ^@ NM_152269.4(C12orf65):c.56C>T (p.Ala19Val) http://identifiers.org/clinvar/326560 ^@ NM_014646.2(LPIN2):c.*2724A>G http://identifiers.org/clinvar/308726 ^@ NM_016123.3(IRAK4):c.526G>T (p.Val176Phe) http://identifiers.org/clinvar/307501 ^@ NM_152269.4(C12orf65):c.*143G>T http://identifiers.org/clinvar/307509 ^@ NM_152269.4(C12orf65):c.*674A>G http://identifiers.org/clinvar/307512 ^@ NM_152269.4(C12orf65):c.*711_*713delCTA http://identifiers.org/clinvar/314817 ^@ NM_018319.3(TDP1):c.-224A>G http://identifiers.org/clinvar/308729 ^@ NM_016123.3(IRAK4):c.720T>C (p.Cys240=) http://identifiers.org/clinvar/308730 ^@ NM_016123.3(IRAK4):c.742C>T (p.Leu248=) http://identifiers.org/clinvar/307514 ^@ NM_001414.3(EIF2B1):c.*731T>C http://identifiers.org/clinvar/326562 ^@ NM_014646.2(LPIN2):c.*2493C>G http://identifiers.org/clinvar/314818 ^@ NM_018319.3(TDP1):c.-177C>T http://identifiers.org/clinvar/314822 ^@ NM_018319.3(TDP1):c.15C>T (p.Gly5=) http://identifiers.org/clinvar/308731 ^@ NM_016123.3(IRAK4):c.1191A>G (p.Leu397=) http://identifiers.org/clinvar/308733 ^@ NM_016123.3(IRAK4):c.1347+13delT http://identifiers.org/clinvar/314826 ^@ NM_018319.3(TDP1):c.400G>A (p.Ala134Thr) http://identifiers.org/clinvar/326566 ^@ NM_014646.2(LPIN2):c.*2412C>T http://identifiers.org/clinvar/326573 ^@ NM_014646.2(LPIN2):c.*2197_*2198delTT http://identifiers.org/clinvar/326585 ^@ NM_014646.2(LPIN2):c.*1502G>A http://identifiers.org/clinvar/314828 ^@ NM_018319.3(TDP1):c.789C>T (p.His263=) http://identifiers.org/clinvar/307517 ^@ NM_001414.3(EIF2B1):c.*506C>T http://identifiers.org/clinvar/314829 ^@ NM_018319.3(TDP1):c.884+5G>A http://identifiers.org/clinvar/326588 ^@ NM_014646.2(LPIN2):c.*1220G>A http://identifiers.org/clinvar/314831 ^@ NM_018319.3(TDP1):c.911G>A (p.Arg304Gln) http://identifiers.org/clinvar/314833 ^@ NM_018319.3(TDP1):c.1098A>G (p.Gln366=) http://identifiers.org/clinvar/307522 ^@ NM_001414.3(EIF2B1):c.*395T>C http://identifiers.org/clinvar/326590 ^@ NM_014646.2(LPIN2):c.*1126G>A http://identifiers.org/clinvar/308737 ^@ NM_016123.3(IRAK4):c.*281A>G http://identifiers.org/clinvar/326593 ^@ NM_014646.2(LPIN2):c.*1027G>A http://identifiers.org/clinvar/314836 ^@ NM_018319.3(TDP1):c.1342C>T (p.Arg448Trp) http://identifiers.org/clinvar/314847 ^@ NM_018319.3(TDP1):c.*608delA http://identifiers.org/clinvar/308743 ^@ NM_016123.3(IRAK4):c.*1028T>C http://identifiers.org/clinvar/308752 ^@ NM_016123.3(IRAK4):c.*1760G>A http://identifiers.org/clinvar/326599 ^@ NM_014646.2(LPIN2):c.*897T>G http://identifiers.org/clinvar/326601 ^@ NM_014646.2(LPIN2):c.*833G>A http://identifiers.org/clinvar/314848 ^@ NM_018319.3(TDP1):c.*774G>A http://identifiers.org/clinvar/314849 ^@ NM_018319.3(TDP1):c.*776T>C http://identifiers.org/clinvar/308756 ^@ NM_016123.3(IRAK4):c.*1895G>A http://identifiers.org/clinvar/308763 ^@ NM_016123.3(IRAK4):c.*2198T>C http://identifiers.org/clinvar/326603 ^@ NM_014646.2(LPIN2):c.*813A>C http://identifiers.org/clinvar/314850 ^@ NM_018319.3(TDP1):c.*799A>G http://identifiers.org/clinvar/314854 ^@ NM_018319.3(TDP1):c.*1203G>T http://identifiers.org/clinvar/307526 ^@ NM_001414.3(EIF2B1):c.*258A>G http://identifiers.org/clinvar/307528 ^@ NM_001414.3(EIF2B1):c.868G>A (p.Val290Met) http://identifiers.org/clinvar/326606 ^@ NM_014646.2(LPIN2):c.*796T>C http://identifiers.org/clinvar/307536 ^@ NM_001414.3(EIF2B1):c.-146A>C http://identifiers.org/clinvar/326610 ^@ NM_014646.2(LPIN2):c.*723A>G http://identifiers.org/clinvar/314855 ^@ NM_018319.3(TDP1):c.*1355G>A http://identifiers.org/clinvar/326612 ^@ NM_014646.2(LPIN2):c.*685T>A http://identifiers.org/clinvar/308770 ^@ NM_016123.3(IRAK4):c.*2761G>A http://identifiers.org/clinvar/314858 ^@ NM_018319.3(TDP1):c.*1460C>G http://identifiers.org/clinvar/326613 ^@ NM_014646.2(LPIN2):c.*666C>T http://identifiers.org/clinvar/326616 ^@ NM_014646.2(LPIN2):c.*557G>A http://identifiers.org/clinvar/326617 ^@ NM_014646.2(LPIN2):c.*507T>C http://identifiers.org/clinvar/307539 ^@ NM_001414.3(EIF2B1):c.-193G>T http://identifiers.org/clinvar/307544 ^@ NM_024809.4(TCTN2):c.202A>G (p.Ile68Val) http://identifiers.org/clinvar/307548 ^@ NM_024809.4(TCTN2):c.571T>G (p.Ser191Ala) http://identifiers.org/clinvar/326618 ^@ NM_014646.2(LPIN2):c.*506C>T http://identifiers.org/clinvar/307550 ^@ NM_024809.4(TCTN2):c.635A>G (p.Asn212Ser) http://identifiers.org/clinvar/307554 ^@ NM_024809.4(TCTN2):c.813A>C (p.Ala271=) http://identifiers.org/clinvar/308771 ^@ NM_016123.3(IRAK4):c.*2817A>G http://identifiers.org/clinvar/308810 ^@ NM_020638.2(FGF23):c.-55C>A http://identifiers.org/clinvar/307557 ^@ NM_024809.4(TCTN2):c.892G>C (p.Val298Leu) http://identifiers.org/clinvar/314863 ^@ NM_006329.3(FBLN5):c.*623A>T http://identifiers.org/clinvar/314865 ^@ NM_006329.3(FBLN5):c.*458T>C http://identifiers.org/clinvar/326628 ^@ NM_014646.2(LPIN2):c.*158G>A http://identifiers.org/clinvar/326629 ^@ NM_014646.2(LPIN2):c.*151G>A http://identifiers.org/clinvar/308816 ^@ NM_001017535.1(VDR):c.*2791G>A http://identifiers.org/clinvar/314868 ^@ NM_006329.3(FBLN5):c.*329T>C http://identifiers.org/clinvar/314869 ^@ NM_006329.3(FBLN5):c.*326G>A http://identifiers.org/clinvar/314871 ^@ NM_006329.3(FBLN5):c.1191G>A (p.Thr397=) http://identifiers.org/clinvar/308819 ^@ NM_001017535.1(VDR):c.*2456C>T http://identifiers.org/clinvar/326630 ^@ NM_014646.2(LPIN2):c.*99C>T http://identifiers.org/clinvar/307569 ^@ NM_024809.4(TCTN2):c.*468C>T http://identifiers.org/clinvar/308835 ^@ NM_001017535.1(VDR):c.*2102C>A http://identifiers.org/clinvar/307572 ^@ NM_012463.3(ATP6V0A2):c.-227A>G http://identifiers.org/clinvar/314875 ^@ NM_006329.3(FBLN5):c.862+12C>T http://identifiers.org/clinvar/314877 ^@ NM_006329.3(FBLN5):c.676G>A (p.Gly226Ser) http://identifiers.org/clinvar/308834 ^@ NM_001017535.1(VDR):c.*2102delC http://identifiers.org/clinvar/326632 ^@ NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) http://identifiers.org/clinvar/307576 ^@ NM_012463.3(ATP6V0A2):c.-117C>T http://identifiers.org/clinvar/326642 ^@ NM_014646.2(LPIN2):c.1171G>A (p.Val391Ile) http://identifiers.org/clinvar/326643 ^@ NM_014646.2(LPIN2):c.1169-7delT http://identifiers.org/clinvar/326647 ^@ NM_014646.2(LPIN2):c.932T>A (p.Val311Asp) http://identifiers.org/clinvar/307578 ^@ NM_012463.3(ATP6V0A2):c.309G>T (p.Lys103Asn) http://identifiers.org/clinvar/307579 ^@ NM_012463.3(ATP6V0A2):c.312C>T (p.Leu104=) http://identifiers.org/clinvar/314880 ^@ NM_006329.3(FBLN5):c.251A>G (p.Tyr84Cys) http://identifiers.org/clinvar/326652 ^@ NM_014646.2(LPIN2):c.-36C>G http://identifiers.org/clinvar/326653 ^@ NM_014646.2(LPIN2):c.-37C>G http://identifiers.org/clinvar/314883 ^@ NM_006329.3(FBLN5):c.-57G>A http://identifiers.org/clinvar/326654 ^@ NM_014646.2(LPIN2):c.-66C>T http://identifiers.org/clinvar/314888 ^@ NM_006329.3(FBLN5):c.-411A>G http://identifiers.org/clinvar/308841 ^@ NM_001017535.1(VDR):c.*1906C>A http://identifiers.org/clinvar/314890 ^@ NM_006329.3(FBLN5):c.-414C>T http://identifiers.org/clinvar/326657 ^@ NM_014646.2(LPIN2):c.-173A>T http://identifiers.org/clinvar/308845 ^@ NM_001017535.1(VDR):c.*1482G>C http://identifiers.org/clinvar/308846 ^@ NM_001017535.1(VDR):c.*1477C>T http://identifiers.org/clinvar/314896 ^@ NM_004239.4(TRIP11):c.*1374A>C http://identifiers.org/clinvar/314898 ^@ NM_004239.4(TRIP11):c.*1339delA http://identifiers.org/clinvar/308852 ^@ NM_001017535.1(VDR):c.*1191G>A http://identifiers.org/clinvar/326366 ^@ NM_024422.4(DSC2):c.*1408A>G http://identifiers.org/clinvar/314900 ^@ NM_004239.4(TRIP11):c.*1194A>G http://identifiers.org/clinvar/326367 ^@ NM_024422.4(DSC2):c.*1401C>T http://identifiers.org/clinvar/308855 ^@ NM_001017535.1(VDR):c.*951_*953delGAG http://identifiers.org/clinvar/308856 ^@ NM_001017535.1(VDR):c.*882C>A http://identifiers.org/clinvar/307580 ^@ NM_012463.3(ATP6V0A2):c.614C>T (p.Ala205Val) http://identifiers.org/clinvar/307582 ^@ NM_012463.3(ATP6V0A2):c.794G>A (p.Gly265Glu) http://identifiers.org/clinvar/307589 ^@ NM_012463.3(ATP6V0A2):c.1698A>G (p.Gly566=) http://identifiers.org/clinvar/326381 ^@ NM_024422.4(DSC2):c.*764T>A http://identifiers.org/clinvar/308861 ^@ NM_001017535.1(VDR):c.*487C>T http://identifiers.org/clinvar/307592 ^@ NM_012463.3(ATP6V0A2):c.1820A>G (p.Tyr607Cys) http://identifiers.org/clinvar/308862 ^@ NM_001017535.1(VDR):c.*461G>T http://identifiers.org/clinvar/314901 ^@ NM_004239.4(TRIP11):c.*1060C>T http://identifiers.org/clinvar/314910 ^@ NM_004239.4(TRIP11):c.*491A>C http://identifiers.org/clinvar/326386 ^@ NM_024422.4(DSC2):c.*534A>G http://identifiers.org/clinvar/326388 ^@ NM_024422.4(DSC2):c.*185A>G http://identifiers.org/clinvar/308877 ^@ NM_001017535.1(VDR):c.1056T>C (p.Ile352=) http://identifiers.org/clinvar/307595 ^@ NM_012463.3(ATP6V0A2):c.2072T>C (p.Ile691Thr) http://identifiers.org/clinvar/326389 ^@ NM_024422.4(DSC2):c.*166C>G http://identifiers.org/clinvar/307597 ^@ NM_012463.3(ATP6V0A2):c.2333G>T (p.Gly778Val) http://identifiers.org/clinvar/307602 ^@ NM_012463.3(ATP6V0A2):c.*271A>G http://identifiers.org/clinvar/307603 ^@ NM_012463.3(ATP6V0A2):c.*434T>A http://identifiers.org/clinvar/308887 ^@ NM_001017535.1(VDR):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/326390 ^@ NM_024422.4(DSC2):c.*137A>G http://identifiers.org/clinvar/307610 ^@ NM_012463.3(ATP6V0A2):c.*1128T>C http://identifiers.org/clinvar/307617 ^@ NM_012463.3(ATP6V0A2):c.*1681G>A http://identifiers.org/clinvar/308891 ^@ NM_001017535.1(VDR):c.-180C>A http://identifiers.org/clinvar/308907 ^@ NM_001844.4(COL2A1):c.3808C>T (p.Arg1270Cys) http://identifiers.org/clinvar/308910 ^@ NM_001844.4(COL2A1):c.3561T>G (p.Pro1187=) http://identifiers.org/clinvar/314912 ^@ NM_004239.4(TRIP11):c.*409A>G http://identifiers.org/clinvar/326395 ^@ NM_024422.4(DSC2):c.2205G>T (p.Gln735His) http://identifiers.org/clinvar/307623 ^@ NM_012463.3(ATP6V0A2):c.*2128_*2129delAC http://identifiers.org/clinvar/314916 ^@ NM_004239.4(TRIP11):c.*383delT http://identifiers.org/clinvar/307624 ^@ NM_012463.3(ATP6V0A2):c.*2161C>G http://identifiers.org/clinvar/326396 ^@ NM_024422.4(DSC2):c.2198C>T (p.Ala733Val) http://identifiers.org/clinvar/314917 ^@ NM_004239.4(TRIP11):c.*362C>G http://identifiers.org/clinvar/314928 ^@ NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) http://identifiers.org/clinvar/307629 ^@ NM_012463.3(ATP6V0A2):c.*2454T>C http://identifiers.org/clinvar/307641 ^@ NM_012463.3(ATP6V0A2):c.*3269A>G http://identifiers.org/clinvar/326403 ^@ NM_024422.4(DSC2):c.-365T>A http://identifiers.org/clinvar/307643 ^@ NM_012463.3(ATP6V0A2):c.*3505A>G http://identifiers.org/clinvar/326405 ^@ NM_024422.4(DSC2):c.-381G>C http://identifiers.org/clinvar/307654 ^@ NM_004064.4(CDKN1B):c.-266C>G http://identifiers.org/clinvar/314934 ^@ NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) http://identifiers.org/clinvar/314949 ^@ NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) http://identifiers.org/clinvar/314954 ^@ NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) http://identifiers.org/clinvar/326409 ^@ NM_177986.4(DSG4):c.-88A>G http://identifiers.org/clinvar/326413 ^@ NM_177986.4(DSG4):c.-16A>G http://identifiers.org/clinvar/307656 ^@ NM_004064.4(CDKN1B):c.-202C>T http://identifiers.org/clinvar/314955 ^@ NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) http://identifiers.org/clinvar/326417 ^@ NM_177986.4(DSG4):c.176G>A (p.Arg59Gln) http://identifiers.org/clinvar/314961 ^@ NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) http://identifiers.org/clinvar/307657 ^@ NM_004064.4(CDKN1B):c.-126C>T http://identifiers.org/clinvar/307658 ^@ NM_004064.4(CDKN1B):c.-79T>C http://identifiers.org/clinvar/326429 ^@ NM_177986.4(DSG4):c.928C>A (p.Leu310Ile) http://identifiers.org/clinvar/308914 ^@ NM_001844.4(COL2A1):c.3151G>A (p.Ala1051Thr) http://identifiers.org/clinvar/326430 ^@ NM_177986.4(DSG4):c.955G>A (p.Asp319Asn) http://identifiers.org/clinvar/307659 ^@ NM_004064.4(CDKN1B):c.-10C>T http://identifiers.org/clinvar/326431 ^@ NM_177986.4(DSG4):c.1137G>T (p.Val379=) http://identifiers.org/clinvar/314963 ^@ NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) http://identifiers.org/clinvar/314969 ^@ NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) http://identifiers.org/clinvar/307665 ^@ NM_004064.4(CDKN1B):c.373T>A (p.Ser125Thr) http://identifiers.org/clinvar/307667 ^@ NM_004064.4(CDKN1B):c.475+10C>T http://identifiers.org/clinvar/314975 ^@ NM_004239.4(TRIP11):c.438C>T (p.Phe146=) http://identifiers.org/clinvar/308915 ^@ NM_001844.4(COL2A1):c.3047G>A (p.Arg1016Lys) http://identifiers.org/clinvar/308917 ^@ NM_001844.4(COL2A1):c.2484G>C (p.Gly828=) http://identifiers.org/clinvar/308918 ^@ NM_001844.4(COL2A1):c.2410-11C>T http://identifiers.org/clinvar/314989 ^@ NM_004239.4(TRIP11):c.-272G>C http://identifiers.org/clinvar/326434 ^@ NM_177986.4(DSG4):c.1384G>A (p.Gly462Arg) http://identifiers.org/clinvar/307675 ^@ NM_004064.4(CDKN1B):c.*181T>C http://identifiers.org/clinvar/308920 ^@ NM_001844.4(COL2A1):c.2095-4G>A http://identifiers.org/clinvar/308922 ^@ NM_001844.4(COL2A1):c.1938T>C (p.Pro646=) http://identifiers.org/clinvar/307676 ^@ NM_004064.4(CDKN1B):c.*204T>C http://identifiers.org/clinvar/326441 ^@ NM_177986.4(DSG4):c.1930A>C (p.Ile644Leu) http://identifiers.org/clinvar/314998 ^@ NM_000295.4(SERPINA1):c.*1414G>A http://identifiers.org/clinvar/326445 ^@ NM_177986.4(DSG4):c.2276G>C (p.Arg759Thr) http://identifiers.org/clinvar/307679 ^@ NM_004064.4(CDKN1B):c.*421A>G http://identifiers.org/clinvar/314999 ^@ NM_000295.4(SERPINA1):c.*1331G>A http://identifiers.org/clinvar/307681 ^@ NM_004064.4(CDKN1B):c.*501G>A http://identifiers.org/clinvar/326454 ^@ NM_177986.4(DSG4):c.2796T>G (p.Asn932Lys) http://identifiers.org/clinvar/315003 ^@ NM_000295.4(SERPINA1):c.*1235C>T http://identifiers.org/clinvar/326455 ^@ NM_177986.4(DSG4):c.2945C>T (p.Thr982Met) http://identifiers.org/clinvar/315007 ^@ NM_000295.4(SERPINA1):c.*1067G>A http://identifiers.org/clinvar/315008 ^@ NM_000295.4(SERPINA1):c.*968T>C http://identifiers.org/clinvar/315012 ^@ NM_000295.4(SERPINA1):c.*694A>T http://identifiers.org/clinvar/326461 ^@ NM_177986.4(DSG4):c.*303G>A http://identifiers.org/clinvar/315015 ^@ NM_000295.4(SERPINA1):c.*481G>A http://identifiers.org/clinvar/326464 ^@ NM_001943.4(DSG2):c.-135A>T http://identifiers.org/clinvar/315019 ^@ NM_000295.4(SERPINA1):c.*263C>T http://identifiers.org/clinvar/307685 ^@ NM_004064.4(CDKN1B):c.*833T>A http://identifiers.org/clinvar/308925 ^@ NM_001844.4(COL2A1):c.1659A>G (p.Glu553=) http://identifiers.org/clinvar/315021 ^@ NM_000295.4(SERPINA1):c.*172T>C http://identifiers.org/clinvar/315027 ^@ NM_000295.4(SERPINA1):c.333T>G (p.Ile111Met) http://identifiers.org/clinvar/326468 ^@ NM_001943.4(DSG2):c.-44C>A http://identifiers.org/clinvar/307696 ^@ NM_025215.5(PUS1):c.-244G>C http://identifiers.org/clinvar/315031 ^@ NM_000295.4(SERPINA1):c.171C>T (p.Phe57=) http://identifiers.org/clinvar/308926 ^@ NM_001844.4(COL2A1):c.1498G>A (p.Val500Ile) http://identifiers.org/clinvar/326470 ^@ NM_001943.4(DSG2):c.15G>C (p.Pro5=) http://identifiers.org/clinvar/315033 ^@ NM_000295.4(SERPINA1):c.-7A>G http://identifiers.org/clinvar/308930 ^@ NM_001844.4(COL2A1):c.1004C>G (p.Thr335Ser) http://identifiers.org/clinvar/308932 ^@ NM_001844.4(COL2A1):c.709-8G>T http://identifiers.org/clinvar/326474 ^@ NM_001943.4(DSG2):c.269C>T (p.Thr90Ile) http://identifiers.org/clinvar/315037 ^@ NM_000295.4(SERPINA1):c.-176C>T http://identifiers.org/clinvar/308936 ^@ NM_001844.4(COL2A1):c.246C>T (p.Phe82=) http://identifiers.org/clinvar/315040 ^@ NM_000295.4(SERPINA1):c.-191C>T http://identifiers.org/clinvar/308938 ^@ NM_001844.4(COL2A1):c.17C>A (p.Ala6Asp) http://identifiers.org/clinvar/326475 ^@ NM_001943.4(DSG2):c.390C>T (p.Tyr130=) http://identifiers.org/clinvar/326476 ^@ NM_001943.4(DSG2):c.828+10A>C http://identifiers.org/clinvar/315042 ^@ NM_000295.4(SERPINA1):c.-223A>G http://identifiers.org/clinvar/326480 ^@ NM_001943.4(DSG2):c.1758T>C (p.Leu586=) http://identifiers.org/clinvar/315045 ^@ NM_177438.2(DICER1):c.*4005G>A http://identifiers.org/clinvar/308942 ^@ NM_000289.5(PFKM):c.-177G>C http://identifiers.org/clinvar/326481 ^@ NM_001943.4(DSG2):c.1863C>G (p.Ala621=) http://identifiers.org/clinvar/315047 ^@ NM_177438.2(DICER1):c.*3886C>T http://identifiers.org/clinvar/326488 ^@ NM_001943.4(DSG2):c.2897G>C (p.Arg966Thr) http://identifiers.org/clinvar/326495 ^@ NM_001943.4(DSG2):c.*211A>G http://identifiers.org/clinvar/307703 ^@ NM_025215.5(PUS1):c.683C>T (p.Thr228Met) http://identifiers.org/clinvar/315048 ^@ NM_177438.2(DICER1):c.*3816A>G http://identifiers.org/clinvar/307706 ^@ NM_025215.5(PUS1):c.1020C>T (p.Phe340=) http://identifiers.org/clinvar/308944 ^@ NM_000289.5(PFKM):c.-174G>A http://identifiers.org/clinvar/315056 ^@ NM_177438.2(DICER1):c.*3175G>A http://identifiers.org/clinvar/326498 ^@ NM_001943.4(DSG2):c.*300G>A http://identifiers.org/clinvar/307708 ^@ NM_025215.5(PUS1):c.1266G>A (p.Gly422=) http://identifiers.org/clinvar/315057 ^@ NM_177438.2(DICER1):c.*3039G>C http://identifiers.org/clinvar/326500 ^@ NM_001943.4(DSG2):c.*392A>G http://identifiers.org/clinvar/307711 ^@ NM_025215.5(PUS1):c.*122C>T http://identifiers.org/clinvar/307712 ^@ NM_025215.5(PUS1):c.*152A>T http://identifiers.org/clinvar/326504 ^@ NM_001943.4(DSG2):c.*565A>G http://identifiers.org/clinvar/315058 ^@ NM_177438.2(DICER1):c.*3024A>G http://identifiers.org/clinvar/308945 ^@ NM_000289.5(PFKM):c.-171C>A http://identifiers.org/clinvar/308951 ^@ NM_000289.5(PFKM):c.820A>G (p.Ile274Val) http://identifiers.org/clinvar/326511 ^@ NM_001943.4(DSG2):c.*737C>G http://identifiers.org/clinvar/308957 ^@ NM_000289.5(PFKM):c.2199-12A>G http://identifiers.org/clinvar/308959 ^@ NM_000289.5(PFKM):c.*3C>T http://identifiers.org/clinvar/326512 ^@ NM_001943.4(DSG2):c.*755G>A http://identifiers.org/clinvar/315063 ^@ NM_177438.2(DICER1):c.*2693A>G http://identifiers.org/clinvar/315065 ^@ NM_177438.2(DICER1):c.*2379dupA http://identifiers.org/clinvar/307714 ^@ NM_000834.3(GRIN2B):c.*1179C>T http://identifiers.org/clinvar/307722 ^@ NM_000834.3(GRIN2B):c.*567A>C http://identifiers.org/clinvar/308962 ^@ NM_000289.5(PFKM):c.*489T>A http://identifiers.org/clinvar/315068 ^@ NM_177438.2(DICER1):c.*2309A>G http://identifiers.org/clinvar/315072 ^@ NM_177438.2(DICER1):c.*1847C>T http://identifiers.org/clinvar/326525 ^@ NM_001943.4(DSG2):c.*1071T>C http://identifiers.org/clinvar/315079 ^@ NM_177438.2(DICER1):c.*1448delT http://identifiers.org/clinvar/326530 ^@ NM_001943.4(DSG2):c.*1450G>A http://identifiers.org/clinvar/307723 ^@ NM_000834.3(GRIN2B):c.*409T>G http://identifiers.org/clinvar/326533 ^@ NM_001943.4(DSG2):c.*1530T>C http://identifiers.org/clinvar/315080 ^@ NM_177438.2(DICER1):c.*1435A>T http://identifiers.org/clinvar/326534 ^@ NM_001943.4(DSG2):c.*1652T>G http://identifiers.org/clinvar/326539 ^@ NM_001943.4(DSG2):c.*1866T>C http://identifiers.org/clinvar/326563 ^@ NM_000371.3(TTR):c.432_437delTCCCAA (p.Asn144_Pro145del) http://identifiers.org/clinvar/315085 ^@ NM_177438.2(DICER1):c.*997C>G http://identifiers.org/clinvar/326564 ^@ NM_000371.3(TTR):c.*21C>A http://identifiers.org/clinvar/326711 ^@ NM_173208.2(TGIF1):c.*19A>G http://identifiers.org/clinvar/308966 ^@ NM_003482.3(KMT2D):c.*2645T>C http://identifiers.org/clinvar/315090 ^@ NM_177438.2(DICER1):c.*806G>A http://identifiers.org/clinvar/315093 ^@ NM_177438.2(DICER1):c.*517C>T http://identifiers.org/clinvar/307724 ^@ NM_000834.3(GRIN2B):c.*368A>G http://identifiers.org/clinvar/308976 ^@ NM_003482.3(KMT2D):c.*1982T>A http://identifiers.org/clinvar/315096 ^@ NM_177438.2(DICER1):c.*326delT http://identifiers.org/clinvar/326715 ^@ NM_173208.2(TGIF1):c.*407C>G http://identifiers.org/clinvar/307733 ^@ NM_000834.3(GRIN2B):c.*110_*113delTCTT http://identifiers.org/clinvar/315099 ^@ NM_177438.2(DICER1):c.*5G>A http://identifiers.org/clinvar/326660 ^@ NM_032978.6(DTNA):c.54G>A (p.Leu18=) http://identifiers.org/clinvar/315100 ^@ NM_177438.2(DICER1):c.5738A>G (p.Lys1913Arg) http://identifiers.org/clinvar/308979 ^@ NM_003482.3(KMT2D):c.*1540A>G http://identifiers.org/clinvar/308983 ^@ NM_003482.3(KMT2D):c.*1043delG http://identifiers.org/clinvar/326665 ^@ NM_032978.6(DTNA):c.962C>T (p.Pro321Leu) http://identifiers.org/clinvar/326667 ^@ NM_032978.6(DTNA):c.*21C>T http://identifiers.org/clinvar/308984 ^@ NM_003482.3(KMT2D):c.*1041G>T http://identifiers.org/clinvar/308986 ^@ NM_003482.3(KMT2D):c.*815C>T http://identifiers.org/clinvar/307744 ^@ NM_000834.3(GRIN2B):c.2826G>A (p.Thr942=) http://identifiers.org/clinvar/315102 ^@ NM_177438.2(DICER1):c.4819C>T (p.Arg1607Trp) http://identifiers.org/clinvar/315105 ^@ NM_177438.2(DICER1):c.4206+9G>T http://identifiers.org/clinvar/326669 ^@ NM_032978.6(DTNA):c.*29G>A http://identifiers.org/clinvar/326671 ^@ NM_032978.6(DTNA):c.*172C>T http://identifiers.org/clinvar/326673 ^@ NM_032978.6(DTNA):c.*231G>A http://identifiers.org/clinvar/315110 ^@ NM_177438.2(DICER1):c.1080A>G (p.Glu360=) http://identifiers.org/clinvar/307757 ^@ NM_000900.3(MGP):c.*615A>G http://identifiers.org/clinvar/315118 ^@ NM_177438.2(DICER1):c.-164C>T http://identifiers.org/clinvar/308988 ^@ NM_003482.3(KMT2D):c.*456C>G http://identifiers.org/clinvar/315120 ^@ NM_003384.2(VRK1):c.-81C>T http://identifiers.org/clinvar/326678 ^@ NM_032978.6(DTNA):c.*419G>A http://identifiers.org/clinvar/326679 ^@ NM_032978.6(DTNA):c.*562T>C http://identifiers.org/clinvar/315121 ^@ NM_003384.2(VRK1):c.261C>T (p.Tyr87=) http://identifiers.org/clinvar/307759 ^@ NM_000900.3(MGP):c.*552A>T http://identifiers.org/clinvar/326683 ^@ NM_032978.6(DTNA):c.*782G>C http://identifiers.org/clinvar/308993 ^@ NM_003482.3(KMT2D):c.*207C>T http://identifiers.org/clinvar/307763 ^@ NM_000900.3(MGP):c.*343G>A http://identifiers.org/clinvar/326686 ^@ NM_032978.6(DTNA):c.*980C>G http://identifiers.org/clinvar/315122 ^@ NM_003384.2(VRK1):c.375-8G>C http://identifiers.org/clinvar/308994 ^@ NM_003482.3(KMT2D):c.*204C>G http://identifiers.org/clinvar/315265 ^@ NM_139057.3(ADAMTS17):c.2591+6A>G http://identifiers.org/clinvar/326702 ^@ NM_032978.6(DTNA):c.*2053C>G http://identifiers.org/clinvar/308995 ^@ NM_003482.3(KMT2D):c.*127C>G http://identifiers.org/clinvar/308998 ^@ NM_003482.3(KMT2D):c.16566G>A (p.Lys5522=) http://identifiers.org/clinvar/309005 ^@ NM_003482.3(KMT2D):c.14436C>T (p.Pro4812=) http://identifiers.org/clinvar/315275 ^@ NM_139057.3(ADAMTS17):c.1981T>C (p.Tyr661His) http://identifiers.org/clinvar/315276 ^@ NM_139057.3(ADAMTS17):c.1971C>G (p.Pro657=) http://identifiers.org/clinvar/326703 ^@ NM_032978.6(DTNA):c.*2126C>T http://identifiers.org/clinvar/326704 ^@ NM_032978.6(DTNA):c.*2131G>A http://identifiers.org/clinvar/307764 ^@ NM_000900.3(MGP):c.*339T>C http://identifiers.org/clinvar/315277 ^@ NM_139057.3(ADAMTS17):c.1962C>T (p.Asp654=) http://identifiers.org/clinvar/315283 ^@ NM_139057.3(ADAMTS17):c.1804C>T (p.Pro602Ser) http://identifiers.org/clinvar/326706 ^@ NM_032978.6(DTNA):c.*2407C>A http://identifiers.org/clinvar/326718 ^@ NM_015559.2(SETBP1):c.-241dupG http://identifiers.org/clinvar/309006 ^@ NM_003482.3(KMT2D):c.14207C>T (p.Ala4736Val) http://identifiers.org/clinvar/326725 ^@ NM_001130110.1(SETBP1):c.681_682insTCTT (p.Thr228Serfs) http://identifiers.org/clinvar/315284 ^@ NM_139057.3(ADAMTS17):c.1767T>C (p.His589=) http://identifiers.org/clinvar/309007 ^@ NM_003482.3(KMT2D):c.14203C>T (p.Arg4735Trp) http://identifiers.org/clinvar/315289 ^@ NM_139057.3(ADAMTS17):c.1587G>A (p.Ala529=) http://identifiers.org/clinvar/326729 ^@ NM_015559.2(SETBP1):c.839A>G (p.Asn280Ser) http://identifiers.org/clinvar/309010 ^@ NM_003482.3(KMT2D):c.14075+11G>C http://identifiers.org/clinvar/315294 ^@ NM_139057.3(ADAMTS17):c.1337C>T (p.Thr446Ile) http://identifiers.org/clinvar/309020 ^@ NM_003482.3(KMT2D):c.12691C>T (p.Leu4231=) http://identifiers.org/clinvar/326732 ^@ NM_015559.2(SETBP1):c.969G>A (p.Lys323=) http://identifiers.org/clinvar/315296 ^@ NM_139057.3(ADAMTS17):c.1317C>A (p.Phe439Leu) http://identifiers.org/clinvar/326733 ^@ NM_015559.2(SETBP1):c.1032T>A (p.Ser344Arg) http://identifiers.org/clinvar/315298 ^@ NM_139057.3(ADAMTS17):c.1288T>C (p.Ser430Pro) http://identifiers.org/clinvar/326740 ^@ NM_015559.2(SETBP1):c.1491G>A (p.Pro497=) http://identifiers.org/clinvar/315306 ^@ NM_139057.3(ADAMTS17):c.998C>T (p.Pro333Leu) http://identifiers.org/clinvar/307765 ^@ NM_000900.3(MGP):c.*315dupA http://identifiers.org/clinvar/307768 ^@ NM_000900.3(MGP):c.*27T>G http://identifiers.org/clinvar/326746 ^@ NM_015559.2(SETBP1):c.2358C>T (p.Ser786=) http://identifiers.org/clinvar/315318 ^@ NM_139057.3(ADAMTS17):c.441C>G (p.Ala147=) http://identifiers.org/clinvar/315322 ^@ NM_139057.3(ADAMTS17):c.224G>T (p.Arg75Leu) http://identifiers.org/clinvar/326747 ^@ NM_015559.2(SETBP1):c.2607C>T (p.Ser869=) http://identifiers.org/clinvar/315326 ^@ NM_139057.3(ADAMTS17):c.-9C>T http://identifiers.org/clinvar/315327 ^@ NM_139057.3(ADAMTS17):c.-19dupG http://identifiers.org/clinvar/326760 ^@ NM_015559.2(SETBP1):c.4204C>T (p.Arg1402Trp) http://identifiers.org/clinvar/315424 ^@ NM_144599.4(NIPA1):c.537C>T (p.Ile179=) http://identifiers.org/clinvar/315418 ^@ NM_144599.4(NIPA1):c.*57G>A http://identifiers.org/clinvar/309022 ^@ NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) http://identifiers.org/clinvar/315413 ^@ NM_144599.4(NIPA1):c.*652A>G http://identifiers.org/clinvar/326761 ^@ NM_015559.2(SETBP1):c.4209G>A (p.Glu1403=) http://identifiers.org/clinvar/326763 ^@ NM_015559.2(SETBP1):c.*205C>G http://identifiers.org/clinvar/326764 ^@ NM_015559.2(SETBP1):c.*339C>G http://identifiers.org/clinvar/307769 ^@ NM_000900.3(MGP):c.237C>T (p.Cys79=) http://identifiers.org/clinvar/309027 ^@ NM_003482.3(KMT2D):c.11670C>T (p.Ser3890=) http://identifiers.org/clinvar/315412 ^@ NM_144599.4(NIPA1):c.*780G>A http://identifiers.org/clinvar/326771 ^@ NM_015559.2(SETBP1):c.*1160delC http://identifiers.org/clinvar/326773 ^@ NM_015559.2(SETBP1):c.*1338C>A http://identifiers.org/clinvar/309028 ^@ NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) http://identifiers.org/clinvar/309029 ^@ NM_003482.3(KMT2D):c.11313C>A (p.Pro3771=) http://identifiers.org/clinvar/309041 ^@ NM_003482.3(KMT2D):c.8156G>C (p.Ser2719Thr) http://identifiers.org/clinvar/309042 ^@ NM_003482.3(KMT2D):c.8068C>T (p.Leu2690=) http://identifiers.org/clinvar/315408 ^@ NM_144599.4(NIPA1):c.*1007dupT http://identifiers.org/clinvar/326775 ^@ NM_015559.2(SETBP1):c.*1533T>C http://identifiers.org/clinvar/315407 ^@ NM_144599.4(NIPA1):c.*1012A>G http://identifiers.org/clinvar/309043 ^@ NM_003482.3(KMT2D):c.7970C>T (p.Ala2657Val) http://identifiers.org/clinvar/326778 ^@ NM_015559.2(SETBP1):c.*1643_*1647delGATTA http://identifiers.org/clinvar/315404 ^@ NM_144599.4(NIPA1):c.*1146T>C http://identifiers.org/clinvar/315402 ^@ NM_144599.4(NIPA1):c.*1330G>A http://identifiers.org/clinvar/315401 ^@ NM_144599.4(NIPA1):c.*1395C>T http://identifiers.org/clinvar/326782 ^@ NM_015559.2(SETBP1):c.*2244C>T http://identifiers.org/clinvar/307772 ^@ NM_000900.3(MGP):c.84T>C (p.Ser28=) http://identifiers.org/clinvar/307773 ^@ NM_000900.3(MGP):c.62-9dupT http://identifiers.org/clinvar/315400 ^@ NM_144599.4(NIPA1):c.*1405G>C http://identifiers.org/clinvar/326783 ^@ NM_015559.2(SETBP1):c.*2259A>T http://identifiers.org/clinvar/315397 ^@ NM_144599.4(NIPA1):c.*1750C>G http://identifiers.org/clinvar/326784 ^@ NM_015559.2(SETBP1):c.*2405T>C http://identifiers.org/clinvar/307783 ^@ NM_006205.2(PDE6H):c.*47G>C http://identifiers.org/clinvar/307794 ^@ NM_172364.4(CACNA2D4):c.*1615G>C http://identifiers.org/clinvar/307796 ^@ NM_172364.4(CACNA2D4):c.*1597G>C http://identifiers.org/clinvar/307798 ^@ NM_172364.4(CACNA2D4):c.*1572G>C http://identifiers.org/clinvar/307800 ^@ NM_172364.4(CACNA2D4):c.*1488C>T http://identifiers.org/clinvar/307801 ^@ NM_172364.4(CACNA2D4):c.*1428_*1429insGAG http://identifiers.org/clinvar/315395 ^@ NM_144599.4(NIPA1):c.*1845_*1846dupAA http://identifiers.org/clinvar/326786 ^@ NM_015559.2(SETBP1):c.*2437C>T http://identifiers.org/clinvar/309046 ^@ NM_003482.3(KMT2D):c.7202G>A (p.Arg2401His) http://identifiers.org/clinvar/307805 ^@ NM_172364.4(CACNA2D4):c.*1360G>A http://identifiers.org/clinvar/315390 ^@ NM_144599.4(NIPA1):c.*1974C>A http://identifiers.org/clinvar/315386 ^@ NM_144599.4(NIPA1):c.*2070A>C http://identifiers.org/clinvar/315380 ^@ NM_144599.4(NIPA1):c.*2398A>G http://identifiers.org/clinvar/309049 ^@ NM_003482.3(KMT2D):c.7036G>A (p.Gly2346Ser) http://identifiers.org/clinvar/326790 ^@ NM_015559.2(SETBP1):c.*2900A>G http://identifiers.org/clinvar/307806 ^@ NM_172364.4(CACNA2D4):c.*1336C>A http://identifiers.org/clinvar/309051 ^@ NM_003482.3(KMT2D):c.6704G>A (p.Arg2235Lys) http://identifiers.org/clinvar/315375 ^@ NM_144599.4(NIPA1):c.*2515G>C http://identifiers.org/clinvar/309054 ^@ NM_003482.3(KMT2D):c.6416C>T (p.Ala2139Val) http://identifiers.org/clinvar/307811 ^@ NM_172364.4(CACNA2D4):c.*1202delC http://identifiers.org/clinvar/326793 ^@ NM_015559.2(SETBP1):c.*2970_*2971insT http://identifiers.org/clinvar/309061 ^@ NM_003482.3(KMT2D):c.4865G>C (p.Gly1622Ala) http://identifiers.org/clinvar/315370 ^@ NM_144599.4(NIPA1):c.*2816delG http://identifiers.org/clinvar/307825 ^@ NM_172364.4(CACNA2D4):c.*123A>G http://identifiers.org/clinvar/326794 ^@ NM_015559.2(SETBP1):c.*2971delA http://identifiers.org/clinvar/315349 ^@ NM_144599.4(NIPA1):c.*4363C>T http://identifiers.org/clinvar/326801 ^@ NM_015559.2(SETBP1):c.*3403C>T http://identifiers.org/clinvar/309063 ^@ NM_003482.3(KMT2D):c.4584-10T>C http://identifiers.org/clinvar/326802 ^@ NM_015559.2(SETBP1):c.*3434T>C http://identifiers.org/clinvar/309064 ^@ NM_003482.3(KMT2D):c.4571G>A (p.Arg1524His) http://identifiers.org/clinvar/307828 ^@ NM_172364.4(CACNA2D4):c.*55A>C http://identifiers.org/clinvar/326807 ^@ NM_015559.2(SETBP1):c.*3829C>T http://identifiers.org/clinvar/315344 ^@ NM_144599.4(NIPA1):c.*4870T>G http://identifiers.org/clinvar/307832 ^@ NM_172364.4(CACNA2D4):c.3348A>T (p.Ser1116=) http://identifiers.org/clinvar/307840 ^@ NM_172364.4(CACNA2D4):c.2868+4_2868+7delAGTG http://identifiers.org/clinvar/307841 ^@ NM_172364.4(CACNA2D4):c.2783T>A (p.Val928Glu) http://identifiers.org/clinvar/307845 ^@ NM_172364.4(CACNA2D4):c.2588G>A (p.Arg863His) http://identifiers.org/clinvar/307848 ^@ NM_172364.4(CACNA2D4):c.2470+11G>A http://identifiers.org/clinvar/326810 ^@ NM_015559.2(SETBP1):c.*3884T>G http://identifiers.org/clinvar/307852 ^@ NM_172364.4(CACNA2D4):c.2184T>A (p.Phe728Leu) http://identifiers.org/clinvar/315340 ^@ NM_144599.4(NIPA1):c.*4964G>A http://identifiers.org/clinvar/307853 ^@ NM_172364.4(CACNA2D4):c.2120G>A (p.Arg707His) http://identifiers.org/clinvar/315339 ^@ NM_144599.4(NIPA1):c.*5071C>T http://identifiers.org/clinvar/315337 ^@ NM_144599.4(NIPA1):c.*5258G>A http://identifiers.org/clinvar/326814 ^@ NM_015559.2(SETBP1):c.*4205C>T http://identifiers.org/clinvar/309071 ^@ NM_003482.3(KMT2D):c.3352C>T (p.Leu1118=) http://identifiers.org/clinvar/315333 ^@ NM_144599.4(NIPA1):c.*5430T>G http://identifiers.org/clinvar/326820 ^@ NM_015559.2(SETBP1):c.*4648C>G http://identifiers.org/clinvar/307860 ^@ NM_172364.4(CACNA2D4):c.1508G>A (p.Ser503Asn) http://identifiers.org/clinvar/307877 ^@ NM_172364.4(CACNA2D4):c.-141C>A http://identifiers.org/clinvar/307880 ^@ NM_019844.3(SLCO1B3):c.-241G>A http://identifiers.org/clinvar/315428 ^@ NM_022807.4(SNRPN):c.-841T>A http://identifiers.org/clinvar/326822 ^@ NM_144612.6(LOXHD1):c.*124A>G http://identifiers.org/clinvar/315443 ^@ NM_022807.4(SNRPN):c.-274G>A http://identifiers.org/clinvar/326823 ^@ NM_144612.6(LOXHD1):c.*96G>A http://identifiers.org/clinvar/326825 ^@ NM_144612.6(LOXHD1):c.*19C>T http://identifiers.org/clinvar/309075 ^@ NM_003482.3(KMT2D):c.3161C>T (p.Pro1054Leu) http://identifiers.org/clinvar/326830 ^@ NM_144612.6(LOXHD1):c.5864-14C>T http://identifiers.org/clinvar/315444 ^@ NM_022807.4(SNRPN):c.-262A>T http://identifiers.org/clinvar/309076 ^@ NM_003482.3(KMT2D):c.3156C>T (p.Pro1052=) http://identifiers.org/clinvar/326835 ^@ NM_144612.6(LOXHD1):c.5204A>G (p.Lys1735Arg) http://identifiers.org/clinvar/315445 ^@ NM_022807.4(SNRPN):c.-143-6C>T http://identifiers.org/clinvar/315447 ^@ NM_022807.4(SNRPN):c.-89T>C http://identifiers.org/clinvar/326836 ^@ NM_144612.6(LOXHD1):c.5047G>A (p.Val1683Ile) http://identifiers.org/clinvar/309081 ^@ NM_003482.3(KMT2D):c.2420C>A (p.Ser807Tyr) http://identifiers.org/clinvar/315452 ^@ NM_022807.4(SNRPN):c.183T>C (p.Arg61=) http://identifiers.org/clinvar/307889 ^@ NM_019844.3(SLCO1B3):c.518A>G (p.Tyr173Cys) http://identifiers.org/clinvar/307895 ^@ NM_019844.3(SLCO1B3):c.759T>A (p.Arg253=) http://identifiers.org/clinvar/326844 ^@ NM_144612.6(LOXHD1):c.3951C>A (p.Val1317=) http://identifiers.org/clinvar/326847 ^@ NM_144612.6(LOXHD1):c.3648A>G (p.Thr1216=) http://identifiers.org/clinvar/315454 ^@ NM_022807.4(SNRPN):c.524C>T (p.Pro175Leu) http://identifiers.org/clinvar/315455 ^@ NM_000275.2(OCA2):c.*300T>C http://identifiers.org/clinvar/315460 ^@ NM_000275.2(OCA2):c.2322C>T (p.Phe774=) http://identifiers.org/clinvar/326860 ^@ NM_144612.6(LOXHD1):c.2468G>C (p.Gly823Ala) http://identifiers.org/clinvar/315461 ^@ NM_000275.2(OCA2):c.2145C>G (p.Val715=) http://identifiers.org/clinvar/326862 ^@ NM_144612.6(LOXHD1):c.2386G>A (p.Gly796Arg) http://identifiers.org/clinvar/309084 ^@ NM_003482.3(KMT2D):c.1965C>A (p.Pro655=) http://identifiers.org/clinvar/309085 ^@ NM_003482.3(KMT2D):c.1446A>G (p.Ala482=) http://identifiers.org/clinvar/326864 ^@ NM_144612.6(LOXHD1):c.2227A>G (p.Thr743Ala) http://identifiers.org/clinvar/307903 ^@ NM_019844.3(SLCO1B3):c.1308C>T (p.Ala436=) http://identifiers.org/clinvar/307906 ^@ NM_019844.3(SLCO1B3):c.1432G>C (p.Gly478Arg) http://identifiers.org/clinvar/309088 ^@ NM_003482.3(KMT2D):c.1076G>A (p.Arg359His) http://identifiers.org/clinvar/315465 ^@ NM_000275.2(OCA2):c.1504-12_1504-9delGTTT http://identifiers.org/clinvar/309089 ^@ NM_003482.3(KMT2D):c.695G>C (p.Cys232Ser) http://identifiers.org/clinvar/307910 ^@ NM_019844.3(SLCO1B3):c.1748-12C>T http://identifiers.org/clinvar/315472 ^@ NM_000275.2(OCA2):c.666C>T (p.His222=) http://identifiers.org/clinvar/315473 ^@ NM_000275.2(OCA2):c.648C>T (p.Ser216=) http://identifiers.org/clinvar/326880 ^@ NM_144612.6(LOXHD1):c.409C>T (p.Arg137Cys) http://identifiers.org/clinvar/315474 ^@ NM_000275.2(OCA2):c.594G>A (p.Pro198=) http://identifiers.org/clinvar/326890 ^@ NM_017653.3(DYM):c.1830C>T (p.Gly610=) http://identifiers.org/clinvar/326891 ^@ NM_017653.3(DYM):c.1812G>A (p.Leu604=) http://identifiers.org/clinvar/326902 ^@ NM_017653.3(DYM):c.573A>T (p.Glu191Asp) http://identifiers.org/clinvar/315477 ^@ NM_000275.2(OCA2):c.85G>A (p.Ala29Thr) http://identifiers.org/clinvar/326903 ^@ NM_017653.3(DYM):c.421A>G (p.Ser141Gly) http://identifiers.org/clinvar/315487 ^@ NM_002420.5(TRPM1):c.4715A>G (p.His1572Arg) http://identifiers.org/clinvar/309091 ^@ NM_003482.3(KMT2D):c.295C>T (p.Pro99Ser) http://identifiers.org/clinvar/307911 ^@ NM_019844.3(SLCO1B3):c.1855G>A (p.Val619Ile) http://identifiers.org/clinvar/315489 ^@ NM_002420.5(TRPM1):c.4579G>C (p.Asp1527His) http://identifiers.org/clinvar/326904 ^@ NM_017653.3(DYM):c.342G>A (p.Leu114=) http://identifiers.org/clinvar/326906 ^@ NM_017653.3(DYM):c.297C>T (p.Phe99=) http://identifiers.org/clinvar/315492 ^@ NM_002420.5(TRPM1):c.4303A>G (p.Met1435Val) http://identifiers.org/clinvar/326910 ^@ NM_017653.3(DYM):c.-94G>C http://identifiers.org/clinvar/326911 ^@ NM_017653.3(DYM):c.-154G>T http://identifiers.org/clinvar/309093 ^@ NM_021044.3(DHH):c.*401G>T http://identifiers.org/clinvar/315504 ^@ NM_002420.5(TRPM1):c.3125T>G (p.Leu1042Arg) http://identifiers.org/clinvar/315507 ^@ NM_002420.5(TRPM1):c.2506A>G (p.Ile836Val) http://identifiers.org/clinvar/307913 ^@ NM_019844.3(SLCO1B3):c.1865+11G>A http://identifiers.org/clinvar/326917 ^@ NM_017653.3(DYM):c.-251G>T http://identifiers.org/clinvar/326920 ^@ NM_001080467.2(MYO5B):c.*3368G>C http://identifiers.org/clinvar/309098 ^@ NM_021044.3(DHH):c.1134T>A (p.Thr378=) http://identifiers.org/clinvar/309099 ^@ NM_021044.3(DHH):c.926G>T (p.Arg309Leu) http://identifiers.org/clinvar/307914 ^@ NM_019844.3(SLCO1B3):c.1977G>A (p.Ser659=) http://identifiers.org/clinvar/326926 ^@ NM_001080467.2(MYO5B):c.*3188G>A http://identifiers.org/clinvar/326934 ^@ NM_001080467.2(MYO5B):c.*2974A>G http://identifiers.org/clinvar/307916 ^@ NM_019844.3(SLCO1B3):c.*8T>C http://identifiers.org/clinvar/307917 ^@ NM_019844.3(SLCO1B3):c.*136C>T http://identifiers.org/clinvar/315510 ^@ NM_002420.5(TRPM1):c.2374-13C>A http://identifiers.org/clinvar/326937 ^@ NM_001080467.2(MYO5B):c.*2747A>C http://identifiers.org/clinvar/309101 ^@ NM_021044.3(DHH):c.587C>A (p.Ala196Glu) http://identifiers.org/clinvar/326944 ^@ NM_001080467.2(MYO5B):c.*2538G>A http://identifiers.org/clinvar/309104 ^@ NM_021044.3(DHH):c.367C>T (p.Leu123=) http://identifiers.org/clinvar/326950 ^@ NM_001080467.2(MYO5B):c.*2215T>C http://identifiers.org/clinvar/309107 ^@ NM_021044.3(DHH):c.-254G>A http://identifiers.org/clinvar/326952 ^@ NM_001080467.2(MYO5B):c.*2171T>C http://identifiers.org/clinvar/326962 ^@ NM_001080467.2(MYO5B):c.*1771T>C http://identifiers.org/clinvar/307918 ^@ NM_019844.3(SLCO1B3):c.*219G>A http://identifiers.org/clinvar/315514 ^@ NM_002420.5(TRPM1):c.2242G>A (p.Gly748Ser) http://identifiers.org/clinvar/307926 ^@ NM_019844.3(SLCO1B3):c.*562G>T http://identifiers.org/clinvar/307934 ^@ NM_006446.4(SLCO1B1):c.359+23dupA http://identifiers.org/clinvar/326964 ^@ NM_001080467.2(MYO5B):c.*1671G>T http://identifiers.org/clinvar/307938 ^@ NM_006446.4(SLCO1B1):c.481+1G>T http://identifiers.org/clinvar/307942 ^@ NM_006446.4(SLCO1B1):c.733A>G (p.Ile245Val) http://identifiers.org/clinvar/309108 ^@ NM_021044.3(DHH):c.-255T>C http://identifiers.org/clinvar/309129 ^@ NM_000217.2(KCNA1):c.-731C>G http://identifiers.org/clinvar/309137 ^@ NM_000217.2(KCNA1):c.-235C>A http://identifiers.org/clinvar/315517 ^@ NM_002420.5(TRPM1):c.2022-8C>T http://identifiers.org/clinvar/309142 ^@ NM_000217.2(KCNA1):c.-27C>T http://identifiers.org/clinvar/309147 ^@ NM_000217.2(KCNA1):c.1364T>A (p.Met455Lys) http://identifiers.org/clinvar/307944 ^@ NM_006446.4(SLCO1B1):c.1086C>T (p.Tyr362=) http://identifiers.org/clinvar/307946 ^@ NM_006446.4(SLCO1B1):c.1200C>G (p.Phe400Leu) http://identifiers.org/clinvar/307947 ^@ NM_006446.4(SLCO1B1):c.1248G>A (p.Val416=) http://identifiers.org/clinvar/309149 ^@ NM_000217.2(KCNA1):c.*88G>A http://identifiers.org/clinvar/315522 ^@ NM_002420.5(TRPM1):c.1698+9C>G http://identifiers.org/clinvar/307948 ^@ NM_006446.4(SLCO1B1):c.1322C>A (p.Thr441Asn) http://identifiers.org/clinvar/307949 ^@ NM_006446.4(SLCO1B1):c.1327G>C (p.Asp443His) http://identifiers.org/clinvar/326966 ^@ NM_001080467.2(MYO5B):c.*1614T>C http://identifiers.org/clinvar/326969 ^@ NM_001080467.2(MYO5B):c.*1404T>C http://identifiers.org/clinvar/309157 ^@ NM_000217.2(KCNA1):c.*517T>C http://identifiers.org/clinvar/309161 ^@ NM_000217.2(KCNA1):c.*804C>A http://identifiers.org/clinvar/315526 ^@ NM_002420.5(TRPM1):c.1389A>G (p.Gln463=) http://identifiers.org/clinvar/326972 ^@ NM_001080467.2(MYO5B):c.*1225delT http://identifiers.org/clinvar/326980 ^@ NM_001080467.2(MYO5B):c.*873G>A http://identifiers.org/clinvar/315527 ^@ NM_002420.5(TRPM1):c.1276G>A (p.Gly426Arg) http://identifiers.org/clinvar/326982 ^@ NM_001080467.2(MYO5B):c.*737A>G http://identifiers.org/clinvar/326983 ^@ NM_001080467.2(MYO5B):c.*707T>C http://identifiers.org/clinvar/315533 ^@ NM_002420.5(TRPM1):c.428-8G>A http://identifiers.org/clinvar/326992 ^@ NM_001080467.2(MYO5B):c.*202T>G http://identifiers.org/clinvar/315534 ^@ NM_002420.5(TRPM1):c.427+13C>T http://identifiers.org/clinvar/326996 ^@ NM_001080467.2(MYO5B):c.*99A>C http://identifiers.org/clinvar/326999 ^@ NM_001080467.2(MYO5B):c.5395-6C>T http://identifiers.org/clinvar/309162 ^@ NM_000217.2(KCNA1):c.*829A>G http://identifiers.org/clinvar/309167 ^@ NM_000217.2(KCNA1):c.*1308C>T http://identifiers.org/clinvar/309171 ^@ NM_000217.2(KCNA1):c.*1504G>A http://identifiers.org/clinvar/307950 ^@ NM_006446.4(SLCO1B1):c.1331+9A>G http://identifiers.org/clinvar/315537 ^@ NM_002420.5(TRPM1):c.125G>C (p.Trp42Ser) http://identifiers.org/clinvar/315540 ^@ NM_002420.5(TRPM1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/327001 ^@ NM_001080467.2(MYO5B):c.5062A>G (p.Met1688Val) http://identifiers.org/clinvar/327003 ^@ NM_001080467.2(MYO5B):c.5041G>T (p.Val1681Leu) http://identifiers.org/clinvar/309173 ^@ NM_000217.2(KCNA1):c.*1524A>G http://identifiers.org/clinvar/327004 ^@ NM_001080467.2(MYO5B):c.4853-15G>C http://identifiers.org/clinvar/315543 ^@ NM_133647.1(SLC12A6):c.*3807_*3808delTT http://identifiers.org/clinvar/315544 ^@ NM_133647.1(SLC12A6):c.*3731dupT http://identifiers.org/clinvar/327009 ^@ NM_001080467.2(MYO5B):c.4474A>G (p.Met1492Val) http://identifiers.org/clinvar/309174 ^@ NM_000217.2(KCNA1):c.*1577A>T http://identifiers.org/clinvar/309178 ^@ NM_000217.2(KCNA1):c.*2000C>T http://identifiers.org/clinvar/327012 ^@ NM_001080467.2(MYO5B):c.4445G>A (p.Arg1482Gln) http://identifiers.org/clinvar/315546 ^@ NM_133647.1(SLC12A6):c.*3580G>T http://identifiers.org/clinvar/315549 ^@ NM_133647.1(SLC12A6):c.*3497C>T http://identifiers.org/clinvar/327015 ^@ NM_001080467.2(MYO5B):c.4145C>T (p.Thr1382Met) http://identifiers.org/clinvar/307954 ^@ NM_006446.4(SLCO1B1):c.1463G>C (p.Gly488Ala) http://identifiers.org/clinvar/315550 ^@ NM_133647.1(SLC12A6):c.*3403G>A http://identifiers.org/clinvar/307958 ^@ NM_006446.4(SLCO1B1):c.1794G>A (p.Thr598=) http://identifiers.org/clinvar/327017 ^@ NM_001080467.2(MYO5B):c.3962G>A (p.Gly1321Glu) http://identifiers.org/clinvar/315555 ^@ NM_133647.1(SLC12A6):c.*3143_*3146delGTCT http://identifiers.org/clinvar/309180 ^@ NM_000217.2(KCNA1):c.*2080G>A http://identifiers.org/clinvar/307959 ^@ NM_006446.4(SLCO1B1):c.1929A>C (p.Leu643Phe) http://identifiers.org/clinvar/315559 ^@ NM_133647.1(SLC12A6):c.*2901T>A http://identifiers.org/clinvar/315561 ^@ NM_133647.1(SLC12A6):c.*2804C>T http://identifiers.org/clinvar/327020 ^@ NM_001080467.2(MYO5B):c.3920A>G (p.Tyr1307Cys) http://identifiers.org/clinvar/315570 ^@ NM_133647.1(SLC12A6):c.*2404C>T http://identifiers.org/clinvar/307963 ^@ NM_006446.4(SLCO1B1):c.*167T>C http://identifiers.org/clinvar/307965 ^@ NM_006446.4(SLCO1B1):c.*328A>G http://identifiers.org/clinvar/327021 ^@ NM_001080467.2(MYO5B):c.3917C>T (p.Ala1306Val) http://identifiers.org/clinvar/315572 ^@ NM_133647.1(SLC12A6):c.*2301_*2304delGAAA http://identifiers.org/clinvar/315573 ^@ NM_133647.1(SLC12A6):c.*2289_*2294delGAAAGA http://identifiers.org/clinvar/327035 ^@ NM_001080467.2(MYO5B):c.2832T>G (p.Leu944=) http://identifiers.org/clinvar/315577 ^@ NM_133647.1(SLC12A6):c.*2261G>A http://identifiers.org/clinvar/307968 ^@ NM_006446.4(SLCO1B1):c.*449A>C http://identifiers.org/clinvar/327038 ^@ NM_001080467.2(MYO5B):c.2753G>A (p.Arg918His) http://identifiers.org/clinvar/315588 ^@ NM_133647.1(SLC12A6):c.*1357C>T http://identifiers.org/clinvar/327042 ^@ NM_001080467.2(MYO5B):c.2588A>G (p.Lys863Arg) http://identifiers.org/clinvar/307969 ^@ NM_006446.4(SLCO1B1):c.*463A>G http://identifiers.org/clinvar/307989 ^@ NM_021957.3(GYS2):c.1820A>G (p.His607Arg) http://identifiers.org/clinvar/307993 ^@ NM_021957.3(GYS2):c.1418T>G (p.Val473Gly) http://identifiers.org/clinvar/307996 ^@ NM_021957.3(GYS2):c.1170-4A>G http://identifiers.org/clinvar/315593 ^@ NM_133647.1(SLC12A6):c.*1130C>A http://identifiers.org/clinvar/327043 ^@ NM_001080467.2(MYO5B):c.2572-5G>A http://identifiers.org/clinvar/315595 ^@ NM_133647.1(SLC12A6):c.*1087C>A http://identifiers.org/clinvar/307997 ^@ NM_021957.3(GYS2):c.1128C>T (p.Asn376=) http://identifiers.org/clinvar/315596 ^@ NM_133647.1(SLC12A6):c.*1047A>G http://identifiers.org/clinvar/308003 ^@ NM_021957.3(GYS2):c.755C>G (p.Ala252Gly) http://identifiers.org/clinvar/315599 ^@ NM_133647.1(SLC12A6):c.*751T>C http://identifiers.org/clinvar/309195 ^@ NM_000217.2(KCNA1):c.*2987G>A http://identifiers.org/clinvar/309197 ^@ NM_000217.2(KCNA1):c.*3176A>T http://identifiers.org/clinvar/327044 ^@ NM_001080467.2(MYO5B):c.2571+14C>T http://identifiers.org/clinvar/309204 ^@ NM_000217.2(KCNA1):c.*3588T>C http://identifiers.org/clinvar/315601 ^@ NM_133647.1(SLC12A6):c.*707G>A http://identifiers.org/clinvar/315602 ^@ NM_133647.1(SLC12A6):c.*695C>G http://identifiers.org/clinvar/327045 ^@ NM_001080467.2(MYO5B):c.2415-6C>G http://identifiers.org/clinvar/327046 ^@ NM_001080467.2(MYO5B):c.2327G>A (p.Arg776Gln) http://identifiers.org/clinvar/315604 ^@ NM_133647.1(SLC12A6):c.*494A>G http://identifiers.org/clinvar/327050 ^@ NM_001080467.2(MYO5B):c.2203-13C>T http://identifiers.org/clinvar/327052 ^@ NM_001080467.2(MYO5B):c.2076T>C (p.Ala692=) http://identifiers.org/clinvar/308013 ^@ NM_021957.3(GYS2):c.-240A>G http://identifiers.org/clinvar/315612 ^@ NM_133647.1(SLC12A6):c.1943+15T>C http://identifiers.org/clinvar/308014 ^@ NM_002300.7(LDHB):c.*73T>C http://identifiers.org/clinvar/315616 ^@ NM_133647.1(SLC12A6):c.1118+4C>T http://identifiers.org/clinvar/308015 ^@ NM_002300.7(LDHB):c.879A>G (p.Pro293=) http://identifiers.org/clinvar/308021 ^@ NM_002300.7(LDHB):c.585C>T (p.Gly195=) http://identifiers.org/clinvar/327056 ^@ NM_001080467.2(MYO5B):c.2004-11delT http://identifiers.org/clinvar/315620 ^@ NM_133647.1(SLC12A6):c.964G>A (p.Gly322Ser) http://identifiers.org/clinvar/327060 ^@ NM_001080467.2(MYO5B):c.1968C>T (p.Arg656=) http://identifiers.org/clinvar/315621 ^@ NM_133647.1(SLC12A6):c.543+6G>T http://identifiers.org/clinvar/327061 ^@ NM_001080467.2(MYO5B):c.1952C>G (p.Thr651Arg) http://identifiers.org/clinvar/309205 ^@ NM_000217.2(KCNA1):c.*3724C>T http://identifiers.org/clinvar/315622 ^@ NM_133647.1(SLC12A6):c.411+10delT http://identifiers.org/clinvar/309209 ^@ NM_000217.2(KCNA1):c.*4234A>G http://identifiers.org/clinvar/309215 ^@ NM_000217.2(KCNA1):c.*4663G>A http://identifiers.org/clinvar/309217 ^@ NM_000217.2(KCNA1):c.*4903C>G http://identifiers.org/clinvar/308024 ^@ NM_002300.7(LDHB):c.422-10A>G http://identifiers.org/clinvar/308027 ^@ NM_002300.7(LDHB):c.130-3_130-2delCA http://identifiers.org/clinvar/327065 ^@ NM_001080467.2(MYO5B):c.1323-15C>A http://identifiers.org/clinvar/327066 ^@ NM_001080467.2(MYO5B):c.1322+12G>A http://identifiers.org/clinvar/315625 ^@ NM_133647.1(SLC12A6):c.148A>C (p.Ser50Arg) http://identifiers.org/clinvar/315629 ^@ NM_018648.3(NOP10):c.*172T>G http://identifiers.org/clinvar/327067 ^@ NM_001080467.2(MYO5B):c.1287G>A (p.Lys429=) http://identifiers.org/clinvar/315634 ^@ NM_018648.3(NOP10):c.*41dupC http://identifiers.org/clinvar/315638 ^@ NM_018648.3(NOP10):c.51G>C (p.Leu17=) http://identifiers.org/clinvar/315640 ^@ NM_018648.3(NOP10):c.-38C>T http://identifiers.org/clinvar/327074 ^@ NM_001080467.2(MYO5B):c.926G>A (p.Arg309Gln) http://identifiers.org/clinvar/315641 ^@ NM_018648.3(NOP10):c.-50C>T http://identifiers.org/clinvar/315652 ^@ NM_005159.4(ACTC1):c.*1753G>T http://identifiers.org/clinvar/309220 ^@ NM_000217.2(KCNA1):c.*5106C>G http://identifiers.org/clinvar/308031 ^@ NM_002300.7(LDHB):c.-109C>T http://identifiers.org/clinvar/315657 ^@ NM_005159.4(ACTC1):c.*1482G>T http://identifiers.org/clinvar/309223 ^@ NM_000217.2(KCNA1):c.*5141G>A http://identifiers.org/clinvar/315660 ^@ NM_005159.4(ACTC1):c.*1318T>G http://identifiers.org/clinvar/315663 ^@ NM_005159.4(ACTC1):c.*1133G>T http://identifiers.org/clinvar/308033 ^@ NM_005691.3(ABCC9):c.3669+10T>C http://identifiers.org/clinvar/327077 ^@ NM_001080467.2(MYO5B):c.886A>G (p.Ile296Val) http://identifiers.org/clinvar/315671 ^@ NM_005159.4(ACTC1):c.*935G>T http://identifiers.org/clinvar/315675 ^@ NM_005159.4(ACTC1):c.*865T>C http://identifiers.org/clinvar/327081 ^@ NM_001080467.2(MYO5B):c.744A>G (p.Arg248=) http://identifiers.org/clinvar/315676 ^@ NM_005159.4(ACTC1):c.*846G>A http://identifiers.org/clinvar/327083 ^@ NM_001080467.2(MYO5B):c.541G>A (p.Ala181Thr) http://identifiers.org/clinvar/315679 ^@ NM_005159.4(ACTC1):c.*757G>A http://identifiers.org/clinvar/315680 ^@ NM_005159.4(ACTC1):c.*742C>G http://identifiers.org/clinvar/327088 ^@ NM_001080467.2(MYO5B):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/308046 ^@ NM_005691.3(ABCC9):c.466T>C (p.Cys156Arg) http://identifiers.org/clinvar/308128 ^@ NM_000719.6(CACNA1C):c.537C>T (p.Ile179=) http://identifiers.org/clinvar/315681 ^@ NM_005159.4(ACTC1):c.*739G>T http://identifiers.org/clinvar/309226 ^@ NM_000217.2(KCNA1):c.*5209C>T http://identifiers.org/clinvar/308053 ^@ NM_004985.4(KRAS):c.*4522G>A http://identifiers.org/clinvar/309228 ^@ NM_000217.2(KCNA1):c.*5274A>G http://identifiers.org/clinvar/327091 ^@ NM_001080467.2(MYO5B):c.145G>C (p.Glu49Gln) http://identifiers.org/clinvar/315701 ^@ NM_005159.4(ACTC1):c.*35A>T http://identifiers.org/clinvar/309120 ^@ NM_006009.3(TUBA1A):c.-99A>T http://identifiers.org/clinvar/309234 ^@ NM_000486.5(AQP2):c.526-5T>G http://identifiers.org/clinvar/308055 ^@ NM_004985.4(KRAS):c.*4483G>A http://identifiers.org/clinvar/308057 ^@ NM_004985.4(KRAS):c.*4311A>G http://identifiers.org/clinvar/308059 ^@ NM_004985.4(KRAS):c.*4079T>A http://identifiers.org/clinvar/309262 ^@ NM_000486.5(AQP2):c.*2250C>T http://identifiers.org/clinvar/309263 ^@ NM_000486.5(AQP2):c.*2292_*2295delCTCT http://identifiers.org/clinvar/315703 ^@ NM_005159.4(ACTC1):c.978C>A (p.Thr326=) http://identifiers.org/clinvar/327092 ^@ NM_001080467.2(MYO5B):c.28T>G (p.Cys10Gly) http://identifiers.org/clinvar/309264 ^@ NM_000486.5(AQP2):c.*2495A>G http://identifiers.org/clinvar/309266 ^@ NM_000486.5(AQP2):c.*2725A>C http://identifiers.org/clinvar/327093 ^@ NM_001080467.2(MYO5B):c.20A>G (p.Tyr7Cys) http://identifiers.org/clinvar/309272 ^@ NM_000486.5(AQP2):c.*3153T>G http://identifiers.org/clinvar/309337 ^@ NM_002234.3(KCNA5):c.847C>T (p.Arg283Cys) http://identifiers.org/clinvar/308061 ^@ NM_004985.4(KRAS):c.*4066delA http://identifiers.org/clinvar/308063 ^@ NM_004985.4(KRAS):c.*3915A>G http://identifiers.org/clinvar/315704 ^@ NM_005159.4(ACTC1):c.809-12_809-11insGT http://identifiers.org/clinvar/308069 ^@ NM_004985.4(KRAS):c.*3682_*3683dupTT http://identifiers.org/clinvar/309341 ^@ NM_002234.3(KCNA5):c.*493A>G http://identifiers.org/clinvar/309343 ^@ NM_002234.3(KCNA5):c.*736A>T http://identifiers.org/clinvar/308068 ^@ NM_004985.4(KRAS):c.*3683dupT http://identifiers.org/clinvar/308071 ^@ NM_004985.4(KRAS):c.*3551C>G http://identifiers.org/clinvar/309344 ^@ NM_002234.3(KCNA5):c.*782G>A http://identifiers.org/clinvar/327100 ^@ NM_001080467.2(MYO5B):c.-258T>G http://identifiers.org/clinvar/308077 ^@ NM_004985.4(KRAS):c.*3264delT http://identifiers.org/clinvar/315707 ^@ NM_005159.4(ACTC1):c.809-14_809-13delTG http://identifiers.org/clinvar/308079 ^@ NM_004985.4(KRAS):c.*3152G>A http://identifiers.org/clinvar/315709 ^@ NM_005159.4(ACTC1):c.809-24_809-13delTGTGTGTGTGTG http://identifiers.org/clinvar/308086 ^@ NM_004985.4(KRAS):c.*2456G>A http://identifiers.org/clinvar/308094 ^@ NM_004985.4(KRAS):c.*1846delA http://identifiers.org/clinvar/308095 ^@ NM_004985.4(KRAS):c.*1772A>G http://identifiers.org/clinvar/315716 ^@ NM_005159.4(ACTC1):c.-57T>C http://identifiers.org/clinvar/308097 ^@ NM_004985.4(KRAS):c.*1710G>A http://identifiers.org/clinvar/327105 ^@ NM_005359.5(SMAD4):c.-313C>A http://identifiers.org/clinvar/327111 ^@ NM_005359.5(SMAD4):c.667+3G>A http://identifiers.org/clinvar/309281 ^@ NM_000617.2(SLC11A2):c.*1876T>C http://identifiers.org/clinvar/327115 ^@ NM_005359.5(SMAD4):c.*218A>G http://identifiers.org/clinvar/315717 ^@ NM_005159.4(ACTC1):c.-79G>A http://identifiers.org/clinvar/327125 ^@ NM_005359.5(SMAD4):c.*1179T>C http://identifiers.org/clinvar/308100 ^@ NM_004985.4(KRAS):c.*1655C>T http://identifiers.org/clinvar/327131 ^@ NM_005359.5(SMAD4):c.*1801A>G http://identifiers.org/clinvar/327134 ^@ NM_005359.5(SMAD4):c.*1864C>A http://identifiers.org/clinvar/327135 ^@ NM_005359.5(SMAD4):c.*1866A>G http://identifiers.org/clinvar/315718 ^@ NM_005159.4(ACTC1):c.-101G>T http://identifiers.org/clinvar/315723 ^@ NM_005159.4(ACTC1):c.-228C>A http://identifiers.org/clinvar/327141 ^@ NM_005359.5(SMAD4):c.*2488T>A http://identifiers.org/clinvar/315738 ^@ NM_152594.2(SPRED1):c.1000C>T (p.Arg334Cys) http://identifiers.org/clinvar/327152 ^@ NM_005359.5(SMAD4):c.*2989A>G http://identifiers.org/clinvar/315739 ^@ NM_152594.2(SPRED1):c.*149G>A http://identifiers.org/clinvar/315746 ^@ NM_152594.2(SPRED1):c.*588_*595dupATATATAT http://identifiers.org/clinvar/327157 ^@ NM_005359.5(SMAD4):c.*3506C>T http://identifiers.org/clinvar/309282 ^@ NM_000617.2(SLC11A2):c.*1752dupA http://identifiers.org/clinvar/315750 ^@ NM_152594.2(SPRED1):c.*1337A>C http://identifiers.org/clinvar/327158 ^@ NM_005359.5(SMAD4):c.*3638T>G http://identifiers.org/clinvar/308112 ^@ NM_004985.4(KRAS):c.*973G>T http://identifiers.org/clinvar/327168 ^@ NM_005359.5(SMAD4):c.*4867dupT http://identifiers.org/clinvar/327169 ^@ NM_005359.5(SMAD4):c.*4991dupT http://identifiers.org/clinvar/308115 ^@ NM_004985.4(KRAS):c.*765A>G http://identifiers.org/clinvar/308117 ^@ NM_004985.4(KRAS):c.*538delA http://identifiers.org/clinvar/327171 ^@ NM_005359.5(SMAD4):c.*5004_*5005dupTT http://identifiers.org/clinvar/309284 ^@ NM_000617.2(SLC11A2):c.*1559G>T http://identifiers.org/clinvar/327172 ^@ NM_005359.5(SMAD4):c.*5080A>G http://identifiers.org/clinvar/315753 ^@ NM_152594.2(SPRED1):c.*1659_*1662delATCT http://identifiers.org/clinvar/315755 ^@ NM_152594.2(SPRED1):c.*1747A>C http://identifiers.org/clinvar/309286 ^@ NM_000617.2(SLC11A2):c.*1466dupT http://identifiers.org/clinvar/327184 ^@ NM_005359.5(SMAD4):c.*5535_*5549delACGCGCGCGCGCACAinsG http://identifiers.org/clinvar/308135 ^@ NM_000719.6(CACNA1C):c.1558G>A (p.Ala520Thr) http://identifiers.org/clinvar/309291 ^@ NM_000617.2(SLC11A2):c.*1007A>G http://identifiers.org/clinvar/309293 ^@ NM_000617.2(SLC11A2):c.*985G>A http://identifiers.org/clinvar/327193 ^@ NM_005359.5(SMAD4):c.*5546_*5547insGCAC http://identifiers.org/clinvar/309295 ^@ NM_000617.2(SLC11A2):c.*872A>C http://identifiers.org/clinvar/315759 ^@ NM_152594.2(SPRED1):c.*2414delT http://identifiers.org/clinvar/315764 ^@ NM_152594.2(SPRED1):c.*2885G>A http://identifiers.org/clinvar/308137 ^@ NM_000719.6(CACNA1C):c.2232A>C (p.Leu744=) http://identifiers.org/clinvar/308138 ^@ NM_000719.6(CACNA1C):c.2398A>C (p.Lys800Gln) http://identifiers.org/clinvar/309304 ^@ NM_000617.2(SLC11A2):c.1663G>A (p.Ala555Thr) http://identifiers.org/clinvar/327194 ^@ NM_005359.5(SMAD4):c.*5546_*5547insGCACAC http://identifiers.org/clinvar/309307 ^@ NM_000617.2(SLC11A2):c.1576-14A>G http://identifiers.org/clinvar/309318 ^@ NM_000617.2(SLC11A2):c.607+12G>A http://identifiers.org/clinvar/309325 ^@ NM_000617.2(SLC11A2):c.-39G>A http://identifiers.org/clinvar/327195 ^@ NM_005359.5(SMAD4):c.*5546_*5547insGCACACAC http://identifiers.org/clinvar/327196 ^@ NM_005359.5(SMAD4):c.*5546_*5547insGCACACACAC http://identifiers.org/clinvar/308159 ^@ NM_000719.6(CACNA1C):c.5023G>A (p.Ala1675Thr) http://identifiers.org/clinvar/327197 ^@ NM_005359.5(SMAD4):c.*5574_*5577delCACA http://identifiers.org/clinvar/315765 ^@ NM_152594.2(SPRED1):c.*3057A>G http://identifiers.org/clinvar/315773 ^@ NM_152594.2(SPRED1):c.*3698T>G http://identifiers.org/clinvar/308164 ^@ NM_000719.6(CACNA1C):c.6239A>G (p.Asn2080Ser) http://identifiers.org/clinvar/308170 ^@ NM_000719.6(CACNA1C):c.*290G>A http://identifiers.org/clinvar/309326 ^@ NM_000617.2(SLC11A2):c.-50G>A http://identifiers.org/clinvar/309347 ^@ NM_014191.3(SCN8A):c.-95G>A http://identifiers.org/clinvar/315774 ^@ NM_152594.2(SPRED1):c.*3830G>A http://identifiers.org/clinvar/327200 ^@ NM_005359.5(SMAD4):c.*5576C>G http://identifiers.org/clinvar/327190 ^@ NM_005359.5(SMAD4):c.*5576_*5577dupCA http://identifiers.org/clinvar/308172 ^@ NM_000719.6(CACNA1C):c.*605G>C http://identifiers.org/clinvar/315779 ^@ NM_152594.2(SPRED1):c.*4472C>A http://identifiers.org/clinvar/327201 ^@ NM_005359.5(SMAD4):c.*5578G>C http://identifiers.org/clinvar/315784 ^@ NM_152594.2(SPRED1):c.*4822A>G http://identifiers.org/clinvar/308181 ^@ NM_000719.6(CACNA1C):c.*977A>G http://identifiers.org/clinvar/327203 ^@ NM_005359.5(SMAD4):c.*5637_*5640delACAC http://identifiers.org/clinvar/315786 ^@ NM_152594.2(SPRED1):c.*4950_*4951delAT http://identifiers.org/clinvar/315794 ^@ NM_002225.3(IVD):c.-237G>C http://identifiers.org/clinvar/327208 ^@ NM_005359.5(SMAD4):c.*5863_*5867delGAAAA http://identifiers.org/clinvar/315796 ^@ NM_002225.3(IVD):c.-39G>A http://identifiers.org/clinvar/315801 ^@ NM_002225.3(IVD):c.925C>G (p.Leu309Val) http://identifiers.org/clinvar/327216 ^@ NM_005359.5(SMAD4):c.*6408C>T http://identifiers.org/clinvar/315802 ^@ NM_002225.3(IVD):c.1010T>C (p.Met337Thr) http://identifiers.org/clinvar/308185 ^@ NM_000719.6(CACNA1C):c.*1300C>T http://identifiers.org/clinvar/308188 ^@ NM_000719.6(CACNA1C):c.*1569G>A http://identifiers.org/clinvar/327219 ^@ NM_005359.5(SMAD4):c.*6513C>T http://identifiers.org/clinvar/315803 ^@ NM_002225.3(IVD):c.1075-5C>T http://identifiers.org/clinvar/327233 ^@ NM_001083962.1(TCF4):c.*4549C>G http://identifiers.org/clinvar/315812 ^@ NM_002225.3(IVD):c.*566A>G http://identifiers.org/clinvar/327237 ^@ NM_001083962.1(TCF4):c.*4352_*4353delAA http://identifiers.org/clinvar/309348 ^@ NM_014191.3(SCN8A):c.74T>C (p.Ile25Thr) http://identifiers.org/clinvar/327239 ^@ NM_001083962.1(TCF4):c.*4325_*4326insAT http://identifiers.org/clinvar/308193 ^@ NM_000719.6(CACNA1C):c.*2042G>A http://identifiers.org/clinvar/327242 ^@ NM_001083962.1(TCF4):c.*4325A>G http://identifiers.org/clinvar/327245 ^@ NM_001083962.1(TCF4):c.*4232_*4237delGTTTTT http://identifiers.org/clinvar/308194 ^@ NM_000719.6(CACNA1C):c.*2103C>T http://identifiers.org/clinvar/308199 ^@ NM_000719.6(CACNA1C):c.*2456G>T http://identifiers.org/clinvar/315813 ^@ NM_002225.3(IVD):c.*596G>A http://identifiers.org/clinvar/327257 ^@ NM_001083962.1(TCF4):c.*3418dupT http://identifiers.org/clinvar/327261 ^@ NM_001083962.1(TCF4):c.*3269T>A http://identifiers.org/clinvar/309352 ^@ NM_014191.3(SCN8A):c.1173C>T (p.Phe391=) http://identifiers.org/clinvar/315820 ^@ NM_002225.3(IVD):c.*1471G>A http://identifiers.org/clinvar/309358 ^@ NM_014191.3(SCN8A):c.3060G>C (p.Gln1020His) http://identifiers.org/clinvar/308200 ^@ NM_000719.6(CACNA1C):c.*2473G>A http://identifiers.org/clinvar/315825 ^@ NM_002225.3(IVD):c.*1898G>A http://identifiers.org/clinvar/327262 ^@ NM_001083962.1(TCF4):c.*3116C>T http://identifiers.org/clinvar/315826 ^@ NM_002225.3(IVD):c.*2005G>A http://identifiers.org/clinvar/308201 ^@ NM_000719.6(CACNA1C):c.*2623A>G http://identifiers.org/clinvar/315827 ^@ NM_002225.3(IVD):c.*2070C>T http://identifiers.org/clinvar/309361 ^@ NM_014191.3(SCN8A):c.3480C>T (p.Cys1160=) http://identifiers.org/clinvar/315828 ^@ NM_002225.3(IVD):c.*2275T>C http://identifiers.org/clinvar/327269 ^@ NM_001083962.1(TCF4):c.*2688A>G http://identifiers.org/clinvar/315830 ^@ NM_002225.3(IVD):c.*2302G>A http://identifiers.org/clinvar/308205 ^@ NM_000719.6(CACNA1C):c.*2732T>G http://identifiers.org/clinvar/309363 ^@ NM_014191.3(SCN8A):c.3942+7T>C http://identifiers.org/clinvar/308206 ^@ NM_000719.6(CACNA1C):c.*2817G>A http://identifiers.org/clinvar/327270 ^@ NM_001083962.1(TCF4):c.*2660A>G http://identifiers.org/clinvar/308212 ^@ NM_000719.6(CACNA1C):c.*3063C>G http://identifiers.org/clinvar/315832 ^@ NM_002225.3(IVD):c.*2559G>A http://identifiers.org/clinvar/315833 ^@ NM_002225.3(IVD):c.*2630G>A http://identifiers.org/clinvar/309369 ^@ NM_014191.3(SCN8A):c.*324G>A http://identifiers.org/clinvar/327271 ^@ NM_001083962.1(TCF4):c.*2565T>C http://identifiers.org/clinvar/309373 ^@ NM_014191.3(SCN8A):c.*469_*470dupAC http://identifiers.org/clinvar/309378 ^@ NM_014191.3(SCN8A):c.*762C>T http://identifiers.org/clinvar/308213 ^@ NM_000719.6(CACNA1C):c.*3139C>A http://identifiers.org/clinvar/309379 ^@ NM_014191.3(SCN8A):c.*774T>C http://identifiers.org/clinvar/308215 ^@ NM_000719.6(CACNA1C):c.*3223C>A http://identifiers.org/clinvar/308217 ^@ NM_000719.6(CACNA1C):c.*3338C>T http://identifiers.org/clinvar/327274 ^@ NM_001083962.1(TCF4):c.*2413G>A http://identifiers.org/clinvar/309381 ^@ NM_014191.3(SCN8A):c.*811T>C http://identifiers.org/clinvar/308222 ^@ NM_000719.6(CACNA1C):c.*3804C>T http://identifiers.org/clinvar/308230 ^@ NM_000719.6(CACNA1C):c.*4134A>G http://identifiers.org/clinvar/315838 ^@ NM_144508.4(KNL1):c.-143G>A http://identifiers.org/clinvar/327281 ^@ NM_001083962.1(TCF4):c.*1889T>G http://identifiers.org/clinvar/327297 ^@ NM_001083962.1(TCF4):c.*562C>T http://identifiers.org/clinvar/327298 ^@ NM_001083962.1(TCF4):c.*549G>A http://identifiers.org/clinvar/315850 ^@ NM_144508.4(KNL1):c.2012A>C (p.Asn671Thr) http://identifiers.org/clinvar/327300 ^@ NM_001083962.1(TCF4):c.*356A>G http://identifiers.org/clinvar/309383 ^@ NM_014191.3(SCN8A):c.*925T>C http://identifiers.org/clinvar/308234 ^@ NM_000719.6(CACNA1C):c.*4226C>T http://identifiers.org/clinvar/327306 ^@ NM_001083962.1(TCF4):c.212A>G (p.Tyr71Cys) http://identifiers.org/clinvar/327322 ^@ NM_000140.3(FECH):c.*5143C>T http://identifiers.org/clinvar/327323 ^@ NM_000140.3(FECH):c.*5140G>A http://identifiers.org/clinvar/309384 ^@ NM_014191.3(SCN8A):c.*965A>G http://identifiers.org/clinvar/309388 ^@ NM_014191.3(SCN8A):c.*1405C>T http://identifiers.org/clinvar/327327 ^@ NM_000140.3(FECH):c.*4891dupT http://identifiers.org/clinvar/309394 ^@ NM_014191.3(SCN8A):c.*2067T>G http://identifiers.org/clinvar/309395 ^@ NM_014191.3(SCN8A):c.*2235_*2236delAT http://identifiers.org/clinvar/315851 ^@ NM_144508.4(KNL1):c.2260A>G (p.Ile754Val) http://identifiers.org/clinvar/315859 ^@ NM_144508.4(KNL1):c.3999C>T (p.Cys1333=) http://identifiers.org/clinvar/327330 ^@ NM_000140.3(FECH):c.*4829C>T http://identifiers.org/clinvar/308235 ^@ NM_000719.6(CACNA1C):c.*4235C>T http://identifiers.org/clinvar/309398 ^@ NM_014191.3(SCN8A):c.*2401T>G http://identifiers.org/clinvar/309399 ^@ NM_014191.3(SCN8A):c.*2484C>T http://identifiers.org/clinvar/308240 ^@ NM_000719.6(CACNA1C):c.*4399T>G http://identifiers.org/clinvar/315863 ^@ NM_144508.4(KNL1):c.4550A>T (p.Asn1517Ile) http://identifiers.org/clinvar/315864 ^@ NM_144508.4(KNL1):c.4619G>A (p.Gly1540Glu) http://identifiers.org/clinvar/309405 ^@ NM_014191.3(SCN8A):c.*2832A>T http://identifiers.org/clinvar/309407 ^@ NM_014191.3(SCN8A):c.*3033T>C http://identifiers.org/clinvar/327334 ^@ NM_000140.3(FECH):c.*4597T>C http://identifiers.org/clinvar/309409 ^@ NM_014191.3(SCN8A):c.*3119_*3123delTATAA http://identifiers.org/clinvar/315867 ^@ NM_144508.4(KNL1):c.5401G>A (p.Asp1801Asn) http://identifiers.org/clinvar/309410 ^@ NM_014191.3(SCN8A):c.*3494G>C http://identifiers.org/clinvar/308241 ^@ NM_000719.6(CACNA1C):c.*4410G>T http://identifiers.org/clinvar/327336 ^@ NM_000140.3(FECH):c.*4528C>T http://identifiers.org/clinvar/315869 ^@ NM_144508.4(KNL1):c.5538A>G (p.Glu1846=) http://identifiers.org/clinvar/327338 ^@ NM_000140.3(FECH):c.*4458C>T http://identifiers.org/clinvar/327349 ^@ NM_000140.3(FECH):c.*4056C>T http://identifiers.org/clinvar/309416 ^@ NM_014191.3(SCN8A):c.*3914_*3917dupGCTT http://identifiers.org/clinvar/327352 ^@ NM_000140.3(FECH):c.*3804G>A http://identifiers.org/clinvar/315871 ^@ NM_144508.4(KNL1):c.6497C>G (p.Pro2166Arg) http://identifiers.org/clinvar/308244 ^@ NM_000719.6(CACNA1C):c.*4467delG http://identifiers.org/clinvar/327353 ^@ NM_000140.3(FECH):c.*3788A>G http://identifiers.org/clinvar/315873 ^@ NM_144508.4(KNL1):c.6594+14G>C http://identifiers.org/clinvar/308247 ^@ NM_000719.6(CACNA1C):c.*4598A>G http://identifiers.org/clinvar/327360 ^@ NM_000140.3(FECH):c.*3567G>A http://identifiers.org/clinvar/327366 ^@ NM_000140.3(FECH):c.*2825A>G http://identifiers.org/clinvar/308249 ^@ NM_000719.6(CACNA1C):c.*4758G>T http://identifiers.org/clinvar/309429 ^@ NM_014191.3(SCN8A):c.*4799_*4802dupTGTG http://identifiers.org/clinvar/327369 ^@ NM_000140.3(FECH):c.*2739T>C http://identifiers.org/clinvar/315874 ^@ NM_144508.4(KNL1):c.*201A>G http://identifiers.org/clinvar/315875 ^@ NM_016013.3(NDUFAF1):c.909G>A (p.Val303=) http://identifiers.org/clinvar/327370 ^@ NM_000140.3(FECH):c.*2644A>G http://identifiers.org/clinvar/308250 ^@ NM_000719.6(CACNA1C):c.*4810C>T http://identifiers.org/clinvar/327377 ^@ NM_000140.3(FECH):c.*2451_*2452insG http://identifiers.org/clinvar/315878 ^@ NM_016013.3(NDUFAF1):c.61A>T (p.Thr21Ser) http://identifiers.org/clinvar/315881 ^@ NM_016013.3(NDUFAF1):c.-180C>T http://identifiers.org/clinvar/308255 ^@ NM_000719.6(CACNA1C):c.*5399T>C http://identifiers.org/clinvar/327378 ^@ NM_000140.3(FECH):c.*2450_*2451insG http://identifiers.org/clinvar/309445 ^@ NM_000020.2(ACVRL1):c.*58G>A http://identifiers.org/clinvar/327381 ^@ NM_000140.3(FECH):c.*2446G>T http://identifiers.org/clinvar/309447 ^@ NM_000020.2(ACVRL1):c.*131C>T http://identifiers.org/clinvar/308256 ^@ NM_000719.6(CACNA1C):c.*5421delA http://identifiers.org/clinvar/315883 ^@ NM_016013.3(NDUFAF1):c.-293C>T http://identifiers.org/clinvar/308260 ^@ NM_000719.6(CACNA1C):c.*5734G>C http://identifiers.org/clinvar/315884 ^@ NM_016013.3(NDUFAF1):c.-312T>G http://identifiers.org/clinvar/309461 ^@ NM_000020.2(ACVRL1):c.*949C>T http://identifiers.org/clinvar/309462 ^@ NM_000020.2(ACVRL1):c.*992A>G http://identifiers.org/clinvar/309464 ^@ NM_000020.2(ACVRL1):c.*1041G>T http://identifiers.org/clinvar/309466 ^@ NM_000020.2(ACVRL1):c.*1042C>T http://identifiers.org/clinvar/315890 ^@ NM_000070.2(CAPN3):c.-104G>C http://identifiers.org/clinvar/315894 ^@ NM_000070.2(CAPN3):c.980C>G (p.Ala327Gly) http://identifiers.org/clinvar/327382 ^@ NM_000140.3(FECH):c.*2443T>G http://identifiers.org/clinvar/327385 ^@ NM_000140.3(FECH):c.*2079C>T http://identifiers.org/clinvar/308266 ^@ NM_000719.6(CACNA1C):c.*5968A>C http://identifiers.org/clinvar/327388 ^@ NM_000140.3(FECH):c.*1950A>G http://identifiers.org/clinvar/309472 ^@ NM_000020.2(ACVRL1):c.*1662A>T http://identifiers.org/clinvar/315898 ^@ NM_000070.2(CAPN3):c.2269C>T (p.His757Tyr) http://identifiers.org/clinvar/327393 ^@ NM_000140.3(FECH):c.*1479T>C http://identifiers.org/clinvar/308268 ^@ NM_000719.6(CACNA1C):c.*6023T>C http://identifiers.org/clinvar/315903 ^@ NM_000070.2(CAPN3):c.*443A>C http://identifiers.org/clinvar/327406 ^@ NM_000140.3(FECH):c.*1039G>A http://identifiers.org/clinvar/308269 ^@ NM_000719.6(CACNA1C):c.*6102G>A http://identifiers.org/clinvar/308270 ^@ NM_000719.6(CACNA1C):c.*6193G>A http://identifiers.org/clinvar/315905 ^@ NM_000070.2(CAPN3):c.*534T>C http://identifiers.org/clinvar/315907 ^@ NM_138477.2(CDAN1):c.*788G>T http://identifiers.org/clinvar/327410 ^@ NM_000140.3(FECH):c.*825T>C http://identifiers.org/clinvar/309474 ^@ NM_000020.2(ACVRL1):c.*1776C>T http://identifiers.org/clinvar/308274 ^@ NM_000719.6(CACNA1C):c.*6557C>G http://identifiers.org/clinvar/309478 ^@ NM_000020.2(ACVRL1):c.*2098A>C http://identifiers.org/clinvar/327412 ^@ NM_000140.3(FECH):c.*592C>T http://identifiers.org/clinvar/315908 ^@ NM_138477.2(CDAN1):c.*779_*782delAACA http://identifiers.org/clinvar/308277 ^@ NM_139241.3(FGD4):c.-433C>T http://identifiers.org/clinvar/308285 ^@ NM_139241.3(FGD4):c.310G>A (p.Glu104Lys) http://identifiers.org/clinvar/327416 ^@ NM_000140.3(FECH):c.*422T>A http://identifiers.org/clinvar/309481 ^@ NM_000020.2(ACVRL1):c.*2313G>A http://identifiers.org/clinvar/309484 ^@ NM_000020.2(ACVRL1):c.*2398G>A http://identifiers.org/clinvar/327420 ^@ NM_000140.3(FECH):c.*136G>C http://identifiers.org/clinvar/315913 ^@ NM_138477.2(CDAN1):c.*253_*256delGTTT http://identifiers.org/clinvar/315915 ^@ NM_138477.2(CDAN1):c.*214T>C http://identifiers.org/clinvar/309485 ^@ NM_000020.2(ACVRL1):c.*2422A>G http://identifiers.org/clinvar/309488 ^@ NM_002282.3(KRT83):c.*206_*207delCT http://identifiers.org/clinvar/309489 ^@ NM_002282.3(KRT83):c.*174C>T http://identifiers.org/clinvar/315918 ^@ NM_138477.2(CDAN1):c.3590A>T (p.Asn1197Ile) http://identifiers.org/clinvar/309502 ^@ NM_002282.3(KRT83):c.1084G>A (p.Gly362Ser) http://identifiers.org/clinvar/308287 ^@ NM_139241.3(FGD4):c.435C>T (p.Asp145=) http://identifiers.org/clinvar/315921 ^@ NM_138477.2(CDAN1):c.3204+5G>A http://identifiers.org/clinvar/308293 ^@ NM_139241.3(FGD4):c.994-4A>G http://identifiers.org/clinvar/308295 ^@ NM_139241.3(FGD4):c.1132+13T>C http://identifiers.org/clinvar/309507 ^@ NM_002282.3(KRT83):c.1041+5C>T http://identifiers.org/clinvar/309511 ^@ NM_002282.3(KRT83):c.984C>T (p.Asn328=) http://identifiers.org/clinvar/309512 ^@ NM_002282.3(KRT83):c.957C>A (p.Thr319=) http://identifiers.org/clinvar/315928 ^@ NM_138477.2(CDAN1):c.2805-11T>A http://identifiers.org/clinvar/309517 ^@ NM_002282.3(KRT83):c.837C>G (p.Ile279Met) http://identifiers.org/clinvar/315934 ^@ NM_138477.2(CDAN1):c.2428G>C (p.Ala810Pro) http://identifiers.org/clinvar/315950 ^@ NM_138477.2(CDAN1):c.1058-11T>G http://identifiers.org/clinvar/308304 ^@ NM_139241.3(FGD4):c.*497T>C http://identifiers.org/clinvar/327421 ^@ NM_000140.3(FECH):c.*117C>T http://identifiers.org/clinvar/309522 ^@ NM_002282.3(KRT83):c.699C>T (p.Asn233=) http://identifiers.org/clinvar/327425 ^@ NM_000140.3(FECH):c.913-7C>T http://identifiers.org/clinvar/315956 ^@ NM_138477.2(CDAN1):c.157C>T (p.Leu53=) http://identifiers.org/clinvar/315958 ^@ NM_138477.2(CDAN1):c.-4C>G http://identifiers.org/clinvar/308305 ^@ NM_139241.3(FGD4):c.*734G>A http://identifiers.org/clinvar/308308 ^@ NM_139241.3(FGD4):c.*795G>A http://identifiers.org/clinvar/308309 ^@ NM_139241.3(FGD4):c.*1006C>T http://identifiers.org/clinvar/309523 ^@ NM_002282.3(KRT83):c.676C>T (p.Arg226Cys) http://identifiers.org/clinvar/308313 ^@ NM_139241.3(FGD4):c.*1148C>T http://identifiers.org/clinvar/309529 ^@ NM_002282.3(KRT83):c.601G>T (p.Glu201Ter) http://identifiers.org/clinvar/308315 ^@ NM_139241.3(FGD4):c.*1274G>A http://identifiers.org/clinvar/315959 ^@ NM_138477.2(CDAN1):c.-14G>A http://identifiers.org/clinvar/309532 ^@ NM_002282.3(KRT83):c.502C>T (p.Arg168Trp) http://identifiers.org/clinvar/315960 ^@ NM_173500.3(TTBK2):c.*1311G>A http://identifiers.org/clinvar/315965 ^@ NM_173500.3(TTBK2):c.*744G>A http://identifiers.org/clinvar/315966 ^@ NM_173500.3(TTBK2):c.*690dupT http://identifiers.org/clinvar/308320 ^@ NM_139241.3(FGD4):c.*1492T>G http://identifiers.org/clinvar/308325 ^@ NM_139241.3(FGD4):c.*1866T>G http://identifiers.org/clinvar/309534 ^@ NM_002282.3(KRT83):c.485G>T (p.Gly162Val) http://identifiers.org/clinvar/315972 ^@ NM_173500.3(TTBK2):c.*507T>G http://identifiers.org/clinvar/308327 ^@ NM_139241.3(FGD4):c.*1954A>G http://identifiers.org/clinvar/327431 ^@ NM_000140.3(FECH):c.514G>A (p.Glu172Lys) http://identifiers.org/clinvar/315978 ^@ NM_173500.3(TTBK2):c.3331C>G (p.Leu1111Val) http://identifiers.org/clinvar/327434 ^@ NM_000140.3(FECH):c.287G>A (p.Arg96Gln) http://identifiers.org/clinvar/308330 ^@ NM_139241.3(FGD4):c.*2203T>C http://identifiers.org/clinvar/316000 ^@ NM_173500.3(TTBK2):c.-68+15C>G http://identifiers.org/clinvar/309538 ^@ NM_002282.3(KRT83):c.331_333delGAG (p.Glu111del) http://identifiers.org/clinvar/327435 ^@ NM_000140.3(FECH):c.202A>G (p.Lys68Glu) http://identifiers.org/clinvar/316005 ^@ NM_173500.3(TTBK2):c.-413G>C http://identifiers.org/clinvar/309545 ^@ NM_002282.3(KRT83):c.83G>T (p.Ser28Ile) http://identifiers.org/clinvar/327438 ^@ NM_005603.4(ATP8B1):c.*2015delA http://identifiers.org/clinvar/309548 ^@ NM_000424.3(KRT5):c.*320T>A http://identifiers.org/clinvar/327441 ^@ NM_005603.4(ATP8B1):c.*1723G>A http://identifiers.org/clinvar/327442 ^@ NM_005603.4(ATP8B1):c.*1553T>G http://identifiers.org/clinvar/316010 ^@ NM_000119.2(EPB42):c.1751G>A (p.Arg584Gln) http://identifiers.org/clinvar/309550 ^@ NM_000424.3(KRT5):c.*253C>T http://identifiers.org/clinvar/327446 ^@ NM_005603.4(ATP8B1):c.*1095A>T http://identifiers.org/clinvar/309551 ^@ NM_000424.3(KRT5):c.*185G>A http://identifiers.org/clinvar/309560 ^@ NM_000424.3(KRT5):c.1236C>T (p.Asn412=) http://identifiers.org/clinvar/309565 ^@ NM_000424.3(KRT5):c.771-15C>T http://identifiers.org/clinvar/309570 ^@ NM_000424.3(KRT5):c.352G>A (p.Gly118Ser) http://identifiers.org/clinvar/308335 ^@ NM_139241.3(FGD4):c.*2813C>T http://identifiers.org/clinvar/327449 ^@ NM_005603.4(ATP8B1):c.*900G>T http://identifiers.org/clinvar/327455 ^@ NM_005603.4(ATP8B1):c.*651T>C http://identifiers.org/clinvar/308337 ^@ NM_139241.3(FGD4):c.*3037C>A http://identifiers.org/clinvar/308340 ^@ NM_139241.3(FGD4):c.*3121_*3122delTA http://identifiers.org/clinvar/316011 ^@ NM_000119.2(EPB42):c.1705C>A (p.Leu569Met) http://identifiers.org/clinvar/327456 ^@ NM_005603.4(ATP8B1):c.*646G>C http://identifiers.org/clinvar/327461 ^@ NM_005603.4(ATP8B1):c.*426G>A http://identifiers.org/clinvar/316015 ^@ NM_000119.2(EPB42):c.1285T>C (p.Cys429Arg) http://identifiers.org/clinvar/327464 ^@ NM_005603.4(ATP8B1):c.*132C>G http://identifiers.org/clinvar/327467 ^@ NM_005603.4(ATP8B1):c.3654G>A (p.Ala1218=) http://identifiers.org/clinvar/327469 ^@ NM_005603.4(ATP8B1):c.3450C>T (p.Ile1150=) http://identifiers.org/clinvar/309572 ^@ NM_000424.3(KRT5):c.142A>C (p.Arg48=) http://identifiers.org/clinvar/309575 ^@ NM_000424.3(KRT5):c.110G>A (p.Arg37Gln) http://identifiers.org/clinvar/309585 ^@ NM_000423.2(KRT2):c.*335A>G http://identifiers.org/clinvar/309586 ^@ NM_000423.2(KRT2):c.*301G>A http://identifiers.org/clinvar/316022 ^@ NM_000119.2(EPB42):c.520+12C>T http://identifiers.org/clinvar/309587 ^@ NM_000423.2(KRT2):c.*300T>C http://identifiers.org/clinvar/309588 ^@ NM_000423.2(KRT2):c.*289C>A http://identifiers.org/clinvar/308346 ^@ NM_139241.3(FGD4):c.*3367G>T http://identifiers.org/clinvar/327472 ^@ NM_005603.4(ATP8B1):c.2968G>A (p.Val990Met) http://identifiers.org/clinvar/327476 ^@ NM_005603.4(ATP8B1):c.2498G>A (p.Arg833Gln) http://identifiers.org/clinvar/308349 ^@ NM_139241.3(FGD4):c.*3630T>C http://identifiers.org/clinvar/308351 ^@ NM_139241.3(FGD4):c.*3770G>T http://identifiers.org/clinvar/309590 ^@ NM_000423.2(KRT2):c.*248C>T http://identifiers.org/clinvar/309591 ^@ NM_000423.2(KRT2):c.*216G>A http://identifiers.org/clinvar/316023 ^@ NM_000119.2(EPB42):c.443C>T (p.Ser148Leu) http://identifiers.org/clinvar/327478 ^@ NM_005603.4(ATP8B1):c.2098-18_2098-15dupTTTT http://identifiers.org/clinvar/316024 ^@ NM_000119.2(EPB42):c.436C>T (p.His146Tyr) http://identifiers.org/clinvar/327483 ^@ NM_005603.4(ATP8B1):c.1888C>T (p.His630Tyr) http://identifiers.org/clinvar/327489 ^@ NM_005603.4(ATP8B1):c.1072G>A (p.Gly358Ser) http://identifiers.org/clinvar/327492 ^@ NM_005603.4(ATP8B1):c.494C>G (p.Ala165Gly) http://identifiers.org/clinvar/316026 ^@ NM_000119.2(EPB42):c.267G>A (p.Val89=) http://identifiers.org/clinvar/327495 ^@ NM_005603.4(ATP8B1):c.222C>A (p.His74Gln) http://identifiers.org/clinvar/327498 ^@ NM_005603.4(ATP8B1):c.-48C>T http://identifiers.org/clinvar/309594 ^@ NM_000423.2(KRT2):c.1869G>T (p.Lys623Asn) http://identifiers.org/clinvar/327503 ^@ NM_013435.2(RAX):c.*1756C>A http://identifiers.org/clinvar/316028 ^@ NM_000119.2(EPB42):c.100+1G>A http://identifiers.org/clinvar/309595 ^@ NM_000423.2(KRT2):c.1829G>T (p.Gly610Val) http://identifiers.org/clinvar/308352 ^@ NM_139241.3(FGD4):c.*3814A>G http://identifiers.org/clinvar/309602 ^@ NM_000423.2(KRT2):c.1373G>A (p.Arg458Gln) http://identifiers.org/clinvar/309604 ^@ NM_000423.2(KRT2):c.1289G>A (p.Arg430His) http://identifiers.org/clinvar/308353 ^@ NM_139241.3(FGD4):c.*3894_*3895delGT http://identifiers.org/clinvar/308356 ^@ NM_139241.3(FGD4):c.*4063A>G http://identifiers.org/clinvar/308364 ^@ NM_139241.3(FGD4):c.*4652T>C http://identifiers.org/clinvar/327506 ^@ NM_013435.2(RAX):c.*1547G>T http://identifiers.org/clinvar/316033 ^@ NM_000119.2(EPB42):c.-283G>A http://identifiers.org/clinvar/316034 ^@ NM_201631.3(TGM5):c.*430C>T http://identifiers.org/clinvar/327509 ^@ NM_013435.2(RAX):c.*1437G>T http://identifiers.org/clinvar/327515 ^@ NM_013435.2(RAX):c.*1365G>T http://identifiers.org/clinvar/309608 ^@ NM_000423.2(KRT2):c.1204G>A (p.Val402Met) http://identifiers.org/clinvar/316035 ^@ NM_201631.3(TGM5):c.*252C>T http://identifiers.org/clinvar/327518 ^@ NM_013435.2(RAX):c.*1358delC http://identifiers.org/clinvar/316038 ^@ NM_201631.3(TGM5):c.1820A>C (p.Glu607Ala) http://identifiers.org/clinvar/309609 ^@ NM_000423.2(KRT2):c.1203C>T (p.Arg401=) http://identifiers.org/clinvar/327525 ^@ NM_013435.2(RAX):c.*376C>T http://identifiers.org/clinvar/308370 ^@ NM_139241.3(FGD4):c.*4956T>A http://identifiers.org/clinvar/309611 ^@ NM_000423.2(KRT2):c.940A>G (p.Lys314Glu) http://identifiers.org/clinvar/308371 ^@ NM_139241.3(FGD4):c.*4977G>C http://identifiers.org/clinvar/308373 ^@ NM_139241.3(FGD4):c.*5020G>C http://identifiers.org/clinvar/316039 ^@ NM_201631.3(TGM5):c.1773C>T (p.Asp591=) http://identifiers.org/clinvar/316041 ^@ NM_201631.3(TGM5):c.1562A>G (p.Gln521Arg) http://identifiers.org/clinvar/327527 ^@ NM_013435.2(RAX):c.*291C>T http://identifiers.org/clinvar/327532 ^@ NM_013435.2(RAX):c.745C>T (p.Leu249=) http://identifiers.org/clinvar/309616 ^@ NM_000423.2(KRT2):c.656G>A (p.Gly219Asp) http://identifiers.org/clinvar/327534 ^@ NM_013435.2(RAX):c.173G>C (p.Arg58Pro) http://identifiers.org/clinvar/308378 ^@ NM_139241.3(FGD4):c.*5223G>A http://identifiers.org/clinvar/316043 ^@ NM_201631.3(TGM5):c.1498C>T (p.Arg500Ter) http://identifiers.org/clinvar/327540 ^@ NM_005570.3(LMAN1):c.*2923C>T http://identifiers.org/clinvar/309617 ^@ NM_000423.2(KRT2):c.633G>A (p.Glu211=) http://identifiers.org/clinvar/327546 ^@ NM_005570.3(LMAN1):c.*2259A>T http://identifiers.org/clinvar/308379 ^@ NM_139241.3(FGD4):c.*5244G>A http://identifiers.org/clinvar/309622 ^@ NM_000423.2(KRT2):c.301delAinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly) http://identifiers.org/clinvar/309624 ^@ NM_000423.2(KRT2):c.294C>T (p.Gly98=) http://identifiers.org/clinvar/309627 ^@ NM_000423.2(KRT2):c.134G>A (p.Arg45His) http://identifiers.org/clinvar/309631 ^@ NM_006121.3(KRT1):c.*372G>A http://identifiers.org/clinvar/308381 ^@ NM_139241.3(FGD4):c.*5329G>C http://identifiers.org/clinvar/308385 ^@ NM_012062.4(DNM1L):c.-16C>T http://identifiers.org/clinvar/308389 ^@ NM_012062.4(DNM1L):c.1269T>A (p.Arg423=) http://identifiers.org/clinvar/309632 ^@ NM_006121.3(KRT1):c.*344C>T http://identifiers.org/clinvar/308392 ^@ NM_012062.4(DNM1L):c.1994+9T>G http://identifiers.org/clinvar/316055 ^@ NM_201631.3(TGM5):c.863-9T>C http://identifiers.org/clinvar/327554 ^@ NM_005570.3(LMAN1):c.*1616A>G http://identifiers.org/clinvar/327562 ^@ NM_005570.3(LMAN1):c.*939C>T http://identifiers.org/clinvar/309638 ^@ NM_006121.3(KRT1):c.1677C>T (p.Tyr559=) http://identifiers.org/clinvar/309641 ^@ NM_006121.3(KRT1):c.1506T>C (p.Ser502=) http://identifiers.org/clinvar/316058 ^@ NM_201631.3(TGM5):c.753C>T (p.Asn251=) http://identifiers.org/clinvar/316060 ^@ NM_201631.3(TGM5):c.660C>T (p.Tyr220=) http://identifiers.org/clinvar/309648 ^@ NM_006121.3(KRT1):c.982A>T (p.Thr328Ser) http://identifiers.org/clinvar/308394 ^@ NM_001278464.1(DNM1L):c.*21G>C http://identifiers.org/clinvar/327568 ^@ NM_005570.3(LMAN1):c.1392G>A (p.Pro464=) http://identifiers.org/clinvar/309650 ^@ NM_006121.3(KRT1):c.741T>C (p.Ser247=) http://identifiers.org/clinvar/316063 ^@ NM_201631.3(TGM5):c.167A>T (p.Asn56Ile) http://identifiers.org/clinvar/316068 ^@ NM_025137.3(SPG11):c.*368_*371dupGATA http://identifiers.org/clinvar/316070 ^@ NM_025137.3(SPG11):c.*299G>T http://identifiers.org/clinvar/316072 ^@ NM_025137.3(SPG11):c.*241C>G http://identifiers.org/clinvar/308396 ^@ NM_012062.4(DNM1L):c.*22A>T http://identifiers.org/clinvar/308403 ^@ NM_012062.4(DNM1L):c.*393A>C http://identifiers.org/clinvar/327580 ^@ NM_005570.3(LMAN1):c.27C>G (p.Leu9=) http://identifiers.org/clinvar/316079 ^@ NM_025137.3(SPG11):c.6755-17_6755-15delCTT http://identifiers.org/clinvar/308406 ^@ NM_012062.4(DNM1L):c.*519T>G http://identifiers.org/clinvar/327581 ^@ NM_005570.3(LMAN1):c.-5C>T http://identifiers.org/clinvar/316080 ^@ NM_025137.3(SPG11):c.6477+13delC http://identifiers.org/clinvar/309652 ^@ NM_006121.3(KRT1):c.477G>C (p.Gln159His) http://identifiers.org/clinvar/327584 ^@ NM_133459.3(CCBE1):c.*4940A>T http://identifiers.org/clinvar/327585 ^@ NM_133459.3(CCBE1):c.*4846G>A http://identifiers.org/clinvar/316081 ^@ NM_025137.3(SPG11):c.6284T>C (p.Leu2095Ser) http://identifiers.org/clinvar/308411 ^@ NM_001278464.1(DNM1L):c.*1093T>C http://identifiers.org/clinvar/308413 ^@ NM_012062.4(DNM1L):c.*1120A>G http://identifiers.org/clinvar/316085 ^@ NM_025137.3(SPG11):c.6021delC (p.Tyr2008Thrfs) http://identifiers.org/clinvar/327593 ^@ NM_133459.3(CCBE1):c.*4553_*4555delAAT http://identifiers.org/clinvar/327600 ^@ NM_133459.3(CCBE1):c.*4180A>G http://identifiers.org/clinvar/327601 ^@ NM_133459.3(CCBE1):c.*3893C>T http://identifiers.org/clinvar/316087 ^@ NM_025137.3(SPG11):c.5664T>C (p.Asp1888=) http://identifiers.org/clinvar/327608 ^@ NM_133459.3(CCBE1):c.*3703G>A http://identifiers.org/clinvar/327609 ^@ NM_133459.3(CCBE1):c.*3668_*3676delGCCTGTAAT http://identifiers.org/clinvar/327610 ^@ NM_133459.3(CCBE1):c.*3623A>C http://identifiers.org/clinvar/309655 ^@ NM_006121.3(KRT1):c.257G>A (p.Arg86His) http://identifiers.org/clinvar/327612 ^@ NM_133459.3(CCBE1):c.*3475G>C http://identifiers.org/clinvar/309656 ^@ NM_006121.3(KRT1):c.113G>A (p.Arg38His) http://identifiers.org/clinvar/316091 ^@ NM_025137.3(SPG11):c.4636-11_4636-10delCT http://identifiers.org/clinvar/308414 ^@ NM_001278464.1(DNM1L):c.*1156G>C http://identifiers.org/clinvar/316093 ^@ NM_025137.3(SPG11):c.4162-10T>C http://identifiers.org/clinvar/316094 ^@ NM_025137.3(SPG11):c.4137A>G (p.Gln1379=) http://identifiers.org/clinvar/308418 ^@ NM_012062.4(DNM1L):c.*1242G>A http://identifiers.org/clinvar/316096 ^@ NM_025137.3(SPG11):c.3176C>T (p.Ala1059Val) http://identifiers.org/clinvar/316098 ^@ NM_025137.3(SPG11):c.3038+14A>G http://identifiers.org/clinvar/309659 ^@ NM_002272.3(KRT4):c.*289G>A http://identifiers.org/clinvar/309661 ^@ NM_002272.3(KRT4):c.*133C>T http://identifiers.org/clinvar/327613 ^@ NM_133459.3(CCBE1):c.*3257A>G http://identifiers.org/clinvar/316104 ^@ NM_025137.3(SPG11):c.1819T>G (p.Ser607Ala) http://identifiers.org/clinvar/308420 ^@ NM_012062.4(DNM1L):c.*1315dupA http://identifiers.org/clinvar/316105 ^@ NM_025137.3(SPG11):c.1801C>T (p.Pro601Ser) http://identifiers.org/clinvar/327615 ^@ NM_133459.3(CCBE1):c.*3143T>C http://identifiers.org/clinvar/308431 ^@ NM_012062.4(DNM1L):c.*1755T>C http://identifiers.org/clinvar/308434 ^@ NM_012062.4(DNM1L):c.*1899C>T http://identifiers.org/clinvar/309669 ^@ NM_002272.3(KRT4):c.1419C>T (p.Ser473=) http://identifiers.org/clinvar/327618 ^@ NM_133459.3(CCBE1):c.*3036C>G http://identifiers.org/clinvar/327626 ^@ NM_133459.3(CCBE1):c.*2891G>A http://identifiers.org/clinvar/316108 ^@ NM_025137.3(SPG11):c.1558C>T (p.Leu520Phe) http://identifiers.org/clinvar/316114 ^@ NM_025137.3(SPG11):c.581C>T (p.Pro194Leu) http://identifiers.org/clinvar/327630 ^@ NM_133459.3(CCBE1):c.*2787T>C http://identifiers.org/clinvar/316116 ^@ NM_025137.3(SPG11):c.208C>A (p.Pro70Thr) http://identifiers.org/clinvar/316117 ^@ NM_025137.3(SPG11):c.114G>A (p.Met38Ile) http://identifiers.org/clinvar/327636 ^@ NM_133459.3(CCBE1):c.*2638delA http://identifiers.org/clinvar/316121 ^@ NM_014080.4(DUOX2):c.*1315A>C http://identifiers.org/clinvar/327637 ^@ NM_133459.3(CCBE1):c.*2460T>C http://identifiers.org/clinvar/309678 ^@ NM_002272.3(KRT4):c.945C>T (p.Tyr315=) http://identifiers.org/clinvar/309679 ^@ NM_002272.3(KRT4):c.873C>T (p.Ser291=) http://identifiers.org/clinvar/316123 ^@ NM_014080.4(DUOX2):c.*1230C>T http://identifiers.org/clinvar/309682 ^@ NM_002272.3(KRT4):c.766G>A (p.Val256Met) http://identifiers.org/clinvar/309683 ^@ NM_002272.3(KRT4):c.741C>G (p.Asp247Glu) http://identifiers.org/clinvar/308437 ^@ NM_001278464.1(DNM1L):c.*2102_*2103dupTT http://identifiers.org/clinvar/316124 ^@ NM_014080.4(DUOX2):c.*914G>T http://identifiers.org/clinvar/309689 ^@ NM_002272.3(KRT4):c.623G>A (p.Arg208His) http://identifiers.org/clinvar/327641 ^@ NM_133459.3(CCBE1):c.*2298dupA http://identifiers.org/clinvar/316126 ^@ NM_014080.4(DUOX2):c.*722G>A http://identifiers.org/clinvar/308439 ^@ NM_001040436.2(YARS2):c.*643G>A http://identifiers.org/clinvar/309692 ^@ NM_002272.3(KRT4):c.527C>T (p.Thr176Met) http://identifiers.org/clinvar/316133 ^@ NM_014080.4(DUOX2):c.4637A>G (p.Glu1546Gly) http://identifiers.org/clinvar/316134 ^@ NM_014080.4(DUOX2):c.4619A>C (p.His1540Pro) http://identifiers.org/clinvar/309695 ^@ NM_002272.3(KRT4):c.467A>G (p.Gln156Arg) http://identifiers.org/clinvar/309701 ^@ NM_002272.3(KRT4):c.404C>T (p.Thr135Met) http://identifiers.org/clinvar/327646 ^@ NM_133459.3(CCBE1):c.*2227G>A http://identifiers.org/clinvar/309703 ^@ NM_002272.3(KRT4):c.353T>G (p.Leu118Trp) http://identifiers.org/clinvar/316137 ^@ NM_014080.4(DUOX2):c.4408C>A (p.Arg1470=) http://identifiers.org/clinvar/308447 ^@ NM_001040436.2(YARS2):c.*142T>C http://identifiers.org/clinvar/316138 ^@ NM_014080.4(DUOX2):c.4383G>A (p.Arg1461=) http://identifiers.org/clinvar/327649 ^@ NM_133459.3(CCBE1):c.*2158C>T http://identifiers.org/clinvar/316139 ^@ NM_014080.4(DUOX2):c.4171C>G (p.Pro1391Ala) http://identifiers.org/clinvar/309705 ^@ NM_002272.3(KRT4):c.288G>A (p.Lys96=) http://identifiers.org/clinvar/316150 ^@ NM_014080.4(DUOX2):c.3494C>T (p.Pro1165Leu) http://identifiers.org/clinvar/308449 ^@ NM_001040436.2(YARS2):c.*62G>A http://identifiers.org/clinvar/309707 ^@ NM_002272.3(KRT4):c.261T>A (p.Gly87=) http://identifiers.org/clinvar/309708 ^@ NM_002272.3(KRT4):c.224G>A (p.Gly75Glu) http://identifiers.org/clinvar/327656 ^@ NM_133459.3(CCBE1):c.*2015_*2017dupAAG http://identifiers.org/clinvar/309712 ^@ NM_002272.3(KRT4):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/316151 ^@ NM_014080.4(DUOX2):c.3483C>T (p.Ala1161=) http://identifiers.org/clinvar/316152 ^@ NM_014080.4(DUOX2):c.3416-7C>G http://identifiers.org/clinvar/309717 ^@ NM_015665.5(AAAS):c.*32C>T http://identifiers.org/clinvar/327664 ^@ NM_133459.3(CCBE1):c.*1933delG http://identifiers.org/clinvar/327677 ^@ NM_133459.3(CCBE1):c.*1251G>A http://identifiers.org/clinvar/309719 ^@ NM_015665.5(AAAS):c.1591C>T (p.Leu531Phe) http://identifiers.org/clinvar/309732 ^@ NM_015665.5(AAAS):c.894C>T (p.Asp298=) http://identifiers.org/clinvar/316156 ^@ NM_014080.4(DUOX2):c.3098G>A (p.Arg1033His) http://identifiers.org/clinvar/309736 ^@ NM_015665.5(AAAS):c.333C>T (p.Ser111=) http://identifiers.org/clinvar/309740 ^@ NM_015665.5(AAAS):c.124-4A>G http://identifiers.org/clinvar/309745 ^@ NM_015665.5(AAAS):c.-84G>A http://identifiers.org/clinvar/308451 ^@ NM_001040436.2(YARS2):c.1356A>G (p.Gln452=) http://identifiers.org/clinvar/327678 ^@ NM_133459.3(CCBE1):c.*1161dupA http://identifiers.org/clinvar/308453 ^@ NM_001040436.2(YARS2):c.1104-13dupA http://identifiers.org/clinvar/327679 ^@ NM_133459.3(CCBE1):c.*1040C>T http://identifiers.org/clinvar/308462 ^@ NM_001040436.2(YARS2):c.477C>T (p.Phe159=) http://identifiers.org/clinvar/308463 ^@ NM_001040436.2(YARS2):c.327C>G (p.Ile109Met) http://identifiers.org/clinvar/327680 ^@ NM_133459.3(CCBE1):c.*942C>T http://identifiers.org/clinvar/316168 ^@ NM_014080.4(DUOX2):c.2335-8G>A http://identifiers.org/clinvar/316170 ^@ NM_014080.4(DUOX2):c.2257G>A (p.Glu753Lys) http://identifiers.org/clinvar/308465 ^@ NM_001040436.2(YARS2):c.180G>A (p.Glu60=) http://identifiers.org/clinvar/327681 ^@ NM_133459.3(CCBE1):c.*836C>T http://identifiers.org/clinvar/309755 ^@ NM_001173467.2(SP7):c.*547G>T http://identifiers.org/clinvar/309756 ^@ NM_001173467.2(SP7):c.*538G>T http://identifiers.org/clinvar/308471 ^@ NM_004572.3(PKP2):c.*1271G>C http://identifiers.org/clinvar/327682 ^@ NM_133459.3(CCBE1):c.*835T>A http://identifiers.org/clinvar/308482 ^@ NM_004572.3(PKP2):c.*932C>A http://identifiers.org/clinvar/327683 ^@ NM_133459.3(CCBE1):c.*814T>G http://identifiers.org/clinvar/309758 ^@ NM_001173467.2(SP7):c.*374C>T http://identifiers.org/clinvar/308484 ^@ NM_004572.3(PKP2):c.*839C>T http://identifiers.org/clinvar/309759 ^@ NM_001173467.2(SP7):c.*59A>T http://identifiers.org/clinvar/308490 ^@ NM_004572.3(PKP2):c.*578_*583dupACTTAA http://identifiers.org/clinvar/308496 ^@ NM_004572.3(PKP2):c.*252A>G http://identifiers.org/clinvar/309760 ^@ NM_001173467.2(SP7):c.1253C>T (p.Ala418Val) http://identifiers.org/clinvar/309762 ^@ NM_001173467.2(SP7):c.1007C>G (p.Thr336Ser) http://identifiers.org/clinvar/316171 ^@ NM_014080.4(DUOX2):c.2212G>A (p.Val738Met) http://identifiers.org/clinvar/308497 ^@ NM_004572.3(PKP2):c.*251C>G http://identifiers.org/clinvar/316173 ^@ NM_014080.4(DUOX2):c.1962C>T (p.Gly654=) http://identifiers.org/clinvar/309776 ^@ NM_002206.2(ITGA7):c.*95G>A http://identifiers.org/clinvar/309777 ^@ NM_002206.2(ITGA7):c.3325C>T (p.Arg1109Trp) http://identifiers.org/clinvar/308501 ^@ NM_004572.3(PKP2):c.*110T>G http://identifiers.org/clinvar/327684 ^@ NM_133459.3(CCBE1):c.*803C>G http://identifiers.org/clinvar/327689 ^@ NM_133459.3(CCBE1):c.*610G>A http://identifiers.org/clinvar/309778 ^@ NM_002206.2(ITGA7):c.3174C>T (p.Leu1058=) http://identifiers.org/clinvar/327701 ^@ NM_133459.3(CCBE1):c.*19C>T http://identifiers.org/clinvar/316179 ^@ NM_014080.4(DUOX2):c.944-10C>T http://identifiers.org/clinvar/316185 ^@ NM_014080.4(DUOX2):c.513+8G>C http://identifiers.org/clinvar/309784 ^@ NM_002206.2(ITGA7):c.2126A>G (p.His709Arg) http://identifiers.org/clinvar/316189 ^@ NM_014080.4(DUOX2):c.341C>A (p.Ser114Tyr) http://identifiers.org/clinvar/308506 ^@ NM_004572.3(PKP2):c.2322G>A (p.Leu774=) http://identifiers.org/clinvar/327704 ^@ NM_133459.3(CCBE1):c.669C>A (p.Pro223=) http://identifiers.org/clinvar/309785 ^@ NM_002206.2(ITGA7):c.1953C>T (p.Arg651=) http://identifiers.org/clinvar/327722 ^@ NM_005912.2(MC4R):c.-386G>A http://identifiers.org/clinvar/316191 ^@ NM_014080.4(DUOX2):c.325+13G>C http://identifiers.org/clinvar/327726 ^@ NM_003839.3(TNFRSF11A):c.284-5C>T http://identifiers.org/clinvar/308513 ^@ NM_004572.3(PKP2):c.837C>T (p.Pro279=) http://identifiers.org/clinvar/316195 ^@ NM_014080.4(DUOX2):c.74+11C>T http://identifiers.org/clinvar/327727 ^@ NM_003839.3(TNFRSF11A):c.394G>A (p.Glu132Lys) http://identifiers.org/clinvar/327738 ^@ NM_003839.3(TNFRSF11A):c.1618A>G (p.Met540Val) http://identifiers.org/clinvar/327741 ^@ NM_003839.3(TNFRSF11A):c.*223G>A http://identifiers.org/clinvar/316196 ^@ NM_014080.4(DUOX2):c.-42C>G http://identifiers.org/clinvar/327753 ^@ NM_003839.3(TNFRSF11A):c.*693T>G http://identifiers.org/clinvar/327755 ^@ NM_003839.3(TNFRSF11A):c.*751C>T http://identifiers.org/clinvar/316198 ^@ NM_014080.4(DUOX2):c.-47G>A http://identifiers.org/clinvar/327766 ^@ NM_005786.5(TSHZ1):c.-443_-442dupAG http://identifiers.org/clinvar/316204 ^@ NM_001482.2(GATM):c.*715T>C http://identifiers.org/clinvar/309790 ^@ NM_002206.2(ITGA7):c.1567+8C>T http://identifiers.org/clinvar/327770 ^@ NM_005786.5(TSHZ1):c.-443delA http://identifiers.org/clinvar/316205 ^@ NM_001482.2(GATM):c.*699A>C http://identifiers.org/clinvar/316208 ^@ NM_001482.2(GATM):c.*104A>G http://identifiers.org/clinvar/309808 ^@ NM_002905.3(RDH5):c.-152G>A http://identifiers.org/clinvar/316209 ^@ NM_001482.2(GATM):c.*27C>G http://identifiers.org/clinvar/309809 ^@ NM_002905.3(RDH5):c.-123G>A http://identifiers.org/clinvar/309810 ^@ NM_002905.3(RDH5):c.-120G>A http://identifiers.org/clinvar/309814 ^@ NM_002905.3(RDH5):c.500G>A (p.Arg167His) http://identifiers.org/clinvar/308514 ^@ NM_004572.3(PKP2):c.493G>A (p.Asp165Asn) http://identifiers.org/clinvar/316212 ^@ NM_001482.2(GATM):c.222C>T (p.Pro74=) http://identifiers.org/clinvar/309818 ^@ NM_002905.3(RDH5):c.*133_*135delAAG http://identifiers.org/clinvar/308517 ^@ NM_004572.3(PKP2):c.187A>C (p.Thr63Pro) http://identifiers.org/clinvar/308522 ^@ NM_004572.3(PKP2):c.-79G>T http://identifiers.org/clinvar/327775 ^@ NM_005786.5(TSHZ1):c.-439G>T http://identifiers.org/clinvar/309823 ^@ NM_000456.2(SUOX):c.-184C>A http://identifiers.org/clinvar/316218 ^@ NM_012388.3(BLOC1S6):c.-135C>T http://identifiers.org/clinvar/308525 ^@ NM_004572.3(PKP2):c.-99T>C http://identifiers.org/clinvar/316222 ^@ NM_012388.3(BLOC1S6):c.-78C>A http://identifiers.org/clinvar/309826 ^@ NM_000456.2(SUOX):c.-136-6T>G http://identifiers.org/clinvar/316223 ^@ NM_012388.3(BLOC1S6):c.-52C>T http://identifiers.org/clinvar/316227 ^@ NM_012388.3(BLOC1S6):c.*171A>T http://identifiers.org/clinvar/316232 ^@ NM_012388.3(BLOC1S6):c.*669C>T http://identifiers.org/clinvar/308529 ^@ NM_017641.3(KIF21A):c.*935A>G http://identifiers.org/clinvar/308530 ^@ NM_017641.3(KIF21A):c.*845dupT http://identifiers.org/clinvar/309828 ^@ NM_000456.2(SUOX):c.-74T>A http://identifiers.org/clinvar/316235 ^@ NM_012388.3(BLOC1S6):c.*1124G>T http://identifiers.org/clinvar/316239 ^@ NM_012388.3(BLOC1S6):c.*2007A>T http://identifiers.org/clinvar/327780 ^@ NM_005786.5(TSHZ1):c.-336A>G http://identifiers.org/clinvar/316241 ^@ NM_012388.3(BLOC1S6):c.*2043G>A http://identifiers.org/clinvar/316246 ^@ NM_012388.3(BLOC1S6):c.*2586T>C http://identifiers.org/clinvar/327778 ^@ NM_005786.5(TSHZ1):c.-328dupG http://identifiers.org/clinvar/316250 ^@ NM_000338.2(SLC12A1):c.-136A>G http://identifiers.org/clinvar/308533 ^@ NM_017641.3(KIF21A):c.*690dupT http://identifiers.org/clinvar/327786 ^@ NM_005786.5(TSHZ1):c.-189G>A http://identifiers.org/clinvar/309829 ^@ NM_000456.2(SUOX):c.-23G>A http://identifiers.org/clinvar/316252 ^@ NM_000338.2(SLC12A1):c.-100C>T http://identifiers.org/clinvar/327795 ^@ NM_005786.5(TSHZ1):c.65C>T (p.Ala22Val) http://identifiers.org/clinvar/316262 ^@ NM_000338.2(SLC12A1):c.2028C>T (p.His676=) http://identifiers.org/clinvar/327797 ^@ NM_005786.5(TSHZ1):c.169T>G (p.Cys57Gly) http://identifiers.org/clinvar/327805 ^@ NM_005786.5(TSHZ1):c.474A>G (p.Ala158=) http://identifiers.org/clinvar/308536 ^@ NM_017641.3(KIF21A):c.*645T>G http://identifiers.org/clinvar/316264 ^@ NM_000338.2(SLC12A1):c.2106C>T (p.His702=) http://identifiers.org/clinvar/308545 ^@ NM_017641.3(KIF21A):c.4852G>A (p.Ala1618Thr) http://identifiers.org/clinvar/309832 ^@ NM_000456.2(SUOX):c.192C>T (p.Leu64=) http://identifiers.org/clinvar/316267 ^@ NM_000338.2(SLC12A1):c.2210C>T (p.Ala737Val) http://identifiers.org/clinvar/316271 ^@ NM_000338.2(SLC12A1):c.2521T>C (p.Leu841=) http://identifiers.org/clinvar/309835 ^@ NM_000456.2(SUOX):c.364C>G (p.Pro122Ala) http://identifiers.org/clinvar/308546 ^@ NM_017641.3(KIF21A):c.4729C>T (p.Leu1577=) http://identifiers.org/clinvar/309837 ^@ NM_000456.2(SUOX):c.629C>T (p.Pro210Leu) http://identifiers.org/clinvar/327808 ^@ NM_005786.5(TSHZ1):c.642G>A (p.Val214=) http://identifiers.org/clinvar/309841 ^@ NM_000456.2(SUOX):c.1247C>T (p.Ser416Phe) http://identifiers.org/clinvar/327809 ^@ NM_005786.5(TSHZ1):c.714C>G (p.Thr238=) http://identifiers.org/clinvar/316273 ^@ NM_000338.2(SLC12A1):c.2630-7G>A http://identifiers.org/clinvar/316274 ^@ NM_000338.2(SLC12A1):c.2781C>G (p.Pro927=) http://identifiers.org/clinvar/327810 ^@ NM_005786.5(TSHZ1):c.771T>C (p.Asp257=) http://identifiers.org/clinvar/316278 ^@ NM_000338.2(SLC12A1):c.2943T>C (p.Ile981=) http://identifiers.org/clinvar/316279 ^@ NM_000338.2(SLC12A1):c.2979G>A (p.Glu993=) http://identifiers.org/clinvar/309848 ^@ NM_000456.2(SUOX):c.*355T>C http://identifiers.org/clinvar/308547 ^@ NM_017641.3(KIF21A):c.4523T>G (p.Met1508Arg) http://identifiers.org/clinvar/316281 ^@ NM_000338.2(SLC12A1):c.3113G>A (p.Arg1038Gln) http://identifiers.org/clinvar/316282 ^@ NM_000338.2(SLC12A1):c.*12T>C http://identifiers.org/clinvar/327811 ^@ NM_005786.5(TSHZ1):c.925C>T (p.Arg309Trp) http://identifiers.org/clinvar/309856 ^@ NM_001029.3(RPS26):c.-27C>T http://identifiers.org/clinvar/327812 ^@ NM_005786.5(TSHZ1):c.930G>A (p.Ala310=) http://identifiers.org/clinvar/316290 ^@ NM_000338.2(SLC12A1):c.*284A>G http://identifiers.org/clinvar/309860 ^@ NM_001029.3(RPS26):c.327T>A (p.Arg109=) http://identifiers.org/clinvar/327817 ^@ NM_005786.5(TSHZ1):c.1179C>T (p.Thr393=) http://identifiers.org/clinvar/316293 ^@ NM_000338.2(SLC12A1):c.*921T>C http://identifiers.org/clinvar/308548 ^@ NM_017641.3(KIF21A):c.4503C>G (p.Ser1501=) http://identifiers.org/clinvar/308552 ^@ NM_017641.3(KIF21A):c.4238C>T (p.Thr1413Met) http://identifiers.org/clinvar/308553 ^@ NM_017641.3(KIF21A):c.4225A>G (p.Ile1409Val) http://identifiers.org/clinvar/316294 ^@ NM_000338.2(SLC12A1):c.*1084A>T http://identifiers.org/clinvar/308554 ^@ NM_017641.3(KIF21A):c.4005A>G (p.Lys1335=) http://identifiers.org/clinvar/309881 ^@ NM_012064.3(MIP):c.*148dupT http://identifiers.org/clinvar/316296 ^@ NM_000138.4(FBN1):c.*2674T>A http://identifiers.org/clinvar/327820 ^@ NM_005786.5(TSHZ1):c.1390G>A (p.Val464Met) http://identifiers.org/clinvar/308555 ^@ NM_017641.3(KIF21A):c.3920G>A (p.Arg1307Lys) http://identifiers.org/clinvar/316301 ^@ NM_000138.4(FBN1):c.*2533C>A http://identifiers.org/clinvar/316303 ^@ NM_000138.4(FBN1):c.*2443G>T http://identifiers.org/clinvar/316305 ^@ NM_000138.4(FBN1):c.*2398G>T http://identifiers.org/clinvar/309888 ^@ NM_012064.3(MIP):c.-4T>C http://identifiers.org/clinvar/309898 ^@ NM_005379.3(MYO1A):c.2755G>C (p.Gly919Arg) http://identifiers.org/clinvar/309900 ^@ NM_005379.3(MYO1A):c.2718T>C (p.Asn906=) http://identifiers.org/clinvar/308565 ^@ NM_017641.3(KIF21A):c.2759T>A (p.Ile920Asn) http://identifiers.org/clinvar/316309 ^@ NM_000138.4(FBN1):c.*2221A>G http://identifiers.org/clinvar/308572 ^@ NM_017641.3(KIF21A):c.2392C>T (p.Leu798Phe) http://identifiers.org/clinvar/327821 ^@ NM_005786.5(TSHZ1):c.1402G>A (p.Ala468Thr) http://identifiers.org/clinvar/309905 ^@ NM_005379.3(MYO1A):c.2362C>T (p.Leu788=) http://identifiers.org/clinvar/316310 ^@ NM_000138.4(FBN1):c.*2158G>A http://identifiers.org/clinvar/316323 ^@ NM_000138.4(FBN1):c.*1720C>T http://identifiers.org/clinvar/316325 ^@ NM_000138.4(FBN1):c.*1672G>A http://identifiers.org/clinvar/327826 ^@ NM_005786.5(TSHZ1):c.1708G>A (p.Ala570Thr) http://identifiers.org/clinvar/316327 ^@ NM_000138.4(FBN1):c.*1619T>A http://identifiers.org/clinvar/316330 ^@ NM_000138.4(FBN1):c.*1562G>T http://identifiers.org/clinvar/327832 ^@ NM_005786.5(TSHZ1):c.1862T>C (p.Leu621Pro) http://identifiers.org/clinvar/316331 ^@ NM_000138.4(FBN1):c.*1484C>T http://identifiers.org/clinvar/327836 ^@ NM_005786.5(TSHZ1):c.2078C>T (p.Pro693Leu) http://identifiers.org/clinvar/308582 ^@ NM_017641.3(KIF21A):c.1335G>T (p.Thr445=) http://identifiers.org/clinvar/308584 ^@ NM_017641.3(KIF21A):c.1240G>C (p.Gly414Arg) http://identifiers.org/clinvar/327839 ^@ NM_005786.5(TSHZ1):c.2263C>T (p.Arg755Cys) http://identifiers.org/clinvar/316332 ^@ NM_000138.4(FBN1):c.*1477C>A http://identifiers.org/clinvar/316335 ^@ NM_000138.4(FBN1):c.*1396C>T http://identifiers.org/clinvar/316337 ^@ NM_000138.4(FBN1):c.*1325T>C http://identifiers.org/clinvar/309927 ^@ NM_005379.3(MYO1A):c.-194_-192delGAC http://identifiers.org/clinvar/316350 ^@ NM_000138.4(FBN1):c.*764G>A http://identifiers.org/clinvar/316353 ^@ NM_000138.4(FBN1):c.*406G>T http://identifiers.org/clinvar/316356 ^@ NM_000138.4(FBN1):c.*268G>C http://identifiers.org/clinvar/309937 ^@ NM_004984.2(KIF5A):c.1079T>C (p.Ile360Thr) http://identifiers.org/clinvar/316360 ^@ NM_000138.4(FBN1):c.8310C>T (p.His2770=) http://identifiers.org/clinvar/316367 ^@ NM_000138.4(FBN1):c.6357G>C (p.Val2119=) http://identifiers.org/clinvar/309939 ^@ NM_004984.2(KIF5A):c.1389C>T (p.Asn463=) http://identifiers.org/clinvar/309945 ^@ NM_004984.2(KIF5A):c.2478A>C (p.Gln826His) http://identifiers.org/clinvar/316372 ^@ NM_000138.4(FBN1):c.5672-15C>G http://identifiers.org/clinvar/316383 ^@ NM_000138.4(FBN1):c.1837+9T>C http://identifiers.org/clinvar/309952 ^@ NM_004984.2(KIF5A):c.3068T>G (p.Phe1023Cys) http://identifiers.org/clinvar/308587 ^@ NM_017641.3(KIF21A):c.903T>A (p.Leu301=) http://identifiers.org/clinvar/327843 ^@ NM_005786.5(TSHZ1):c.2322G>A (p.Pro774=) http://identifiers.org/clinvar/308589 ^@ NM_017641.3(KIF21A):c.608A>G (p.Gln203Arg) http://identifiers.org/clinvar/309956 ^@ NM_004984.2(KIF5A):c.*317C>T http://identifiers.org/clinvar/316393 ^@ NM_000138.4(FBN1):c.223C>T (p.Pro75Ser) http://identifiers.org/clinvar/316399 ^@ NM_000138.4(FBN1):c.-371T>C http://identifiers.org/clinvar/316400 ^@ NM_000138.4(FBN1):c.-387_-384delTCTC http://identifiers.org/clinvar/308591 ^@ NM_017641.3(KIF21A):c.268-14G>T http://identifiers.org/clinvar/327847 ^@ NM_005786.5(TSHZ1):c.2373A>G (p.Ala791=) http://identifiers.org/clinvar/316401 ^@ NM_000138.4(FBN1):c.-388C>T http://identifiers.org/clinvar/309968 ^@ NM_000075.3(CDK4):c.*521G>A http://identifiers.org/clinvar/327850 ^@ NM_005786.5(TSHZ1):c.2546C>T (p.Pro849Leu) http://identifiers.org/clinvar/316406 ^@ NM_014985.3(CEP152):c.*73A>C http://identifiers.org/clinvar/327855 ^@ NM_005786.5(TSHZ1):c.2817A>G (p.Thr939=) http://identifiers.org/clinvar/316407 ^@ NM_014985.3(CEP152):c.4840G>C (p.Asp1614His) http://identifiers.org/clinvar/309972 ^@ NM_000075.3(CDK4):c.*370T>G http://identifiers.org/clinvar/316408 ^@ NM_014985.3(CEP152):c.4817A>G (p.His1606Arg) http://identifiers.org/clinvar/316409 ^@ NM_014985.3(CEP152):c.4257G>A (p.Leu1419=) http://identifiers.org/clinvar/308592 ^@ NM_017641.3(KIF21A):c.162A>G (p.Val54=) http://identifiers.org/clinvar/308595 ^@ NM_017641.3(KIF21A):c.-41G>A http://identifiers.org/clinvar/327857 ^@ NM_005786.5(TSHZ1):c.3006G>A (p.Ala1002=) http://identifiers.org/clinvar/327862 ^@ NM_005786.5(TSHZ1):c.*442_*445delAGAA http://identifiers.org/clinvar/327863 ^@ NM_005786.5(TSHZ1):c.*446delG http://identifiers.org/clinvar/327866 ^@ NM_005786.5(TSHZ1):c.*609A>C http://identifiers.org/clinvar/316410 ^@ NM_014985.3(CEP152):c.4007T>C (p.Ile1336Thr) http://identifiers.org/clinvar/316411 ^@ NM_014985.3(CEP152):c.3743G>A (p.Arg1248His) http://identifiers.org/clinvar/308596 ^@ NM_017641.3(KIF21A):c.-146G>A http://identifiers.org/clinvar/327868 ^@ NM_005786.5(TSHZ1):c.*975G>T http://identifiers.org/clinvar/316412 ^@ NM_014985.3(CEP152):c.3612G>C (p.Gly1204=) http://identifiers.org/clinvar/309973 ^@ NM_000075.3(CDK4):c.*319G>A http://identifiers.org/clinvar/327869 ^@ NM_005786.5(TSHZ1):c.*1102C>T http://identifiers.org/clinvar/316422 ^@ NM_014985.3(CEP152):c.2041C>T (p.His681Tyr) http://identifiers.org/clinvar/327875 ^@ NM_021074.4(NDUFV2):c.-30G>T http://identifiers.org/clinvar/327882 ^@ NM_001130823.2(DNMT1):c.*165T>G http://identifiers.org/clinvar/316423 ^@ NM_014985.3(CEP152):c.1972C>T (p.Gln658Ter) http://identifiers.org/clinvar/327889 ^@ NM_001130823.2(DNMT1):c.4146G>A (p.Thr1382=) http://identifiers.org/clinvar/316429 ^@ NM_014985.3(CEP152):c.925A>C (p.Lys309Gln) http://identifiers.org/clinvar/309975 ^@ NM_000075.3(CDK4):c.*303delT http://identifiers.org/clinvar/309976 ^@ NM_000075.3(CDK4):c.*246G>T http://identifiers.org/clinvar/308607 ^@ NM_017641.3(KIF21A):c.-392G>C http://identifiers.org/clinvar/309982 ^@ NM_000075.3(CDK4):c.-55A>T http://identifiers.org/clinvar/327900 ^@ NM_001130823.2(DNMT1):c.2472G>A (p.Thr824=) http://identifiers.org/clinvar/327902 ^@ NM_001130823.2(DNMT1):c.2382-4C>T http://identifiers.org/clinvar/308611 ^@ NM_198578.3(LRRK2):c.712_714delAAT (p.Asn238del) http://identifiers.org/clinvar/309986 ^@ NM_000075.3(CDK4):c.-171G>A http://identifiers.org/clinvar/308612 ^@ NM_198578.3(LRRK2):c.867C>T (p.Asn289=) http://identifiers.org/clinvar/308614 ^@ NM_198578.3(LRRK2):c.1182-4A>G http://identifiers.org/clinvar/308616 ^@ NM_198578.3(LRRK2):c.2070+9T>A http://identifiers.org/clinvar/309987 ^@ NM_000785.3(CYP27B1):c.*722C>G http://identifiers.org/clinvar/316435 ^@ NM_014985.3(CEP152):c.-77G>C http://identifiers.org/clinvar/327903 ^@ NM_001130823.2(DNMT1):c.2260G>A (p.Val754Ile) http://identifiers.org/clinvar/316436 ^@ NM_014985.3(CEP152):c.-94A>G http://identifiers.org/clinvar/309988 ^@ NM_000785.3(CYP27B1):c.*635G>A http://identifiers.org/clinvar/327914 ^@ NM_001130823.2(DNMT1):c.1044-9_1044-8delTT http://identifiers.org/clinvar/309989 ^@ NM_000785.3(CYP27B1):c.*472C>A http://identifiers.org/clinvar/309992 ^@ NM_000785.3(CYP27B1):c.*301T>C http://identifiers.org/clinvar/308619 ^@ NM_198578.3(LRRK2):c.2689+20dupA http://identifiers.org/clinvar/310002 ^@ NM_000785.3(CYP27B1):c.437T>A (p.Leu146His) http://identifiers.org/clinvar/316437 ^@ NM_014985.3(CEP152):c.-105G>A http://identifiers.org/clinvar/316438 ^@ NM_014985.3(CEP152):c.-130C>T http://identifiers.org/clinvar/308622 ^@ NM_198578.3(LRRK2):c.2987A>T (p.Asp996Val) http://identifiers.org/clinvar/308625 ^@ NM_198578.3(LRRK2):c.3435A>C (p.Ser1145=) http://identifiers.org/clinvar/310020 ^@ NM_001172696.1(TSFM):c.879C>T (p.Asp293=) http://identifiers.org/clinvar/310022 ^@ NM_001172696.1(TSFM):c.*182T>G http://identifiers.org/clinvar/310026 ^@ NM_001172696.1(TSFM):c.*461T>C http://identifiers.org/clinvar/327919 ^@ NM_001130823.2(DNMT1):c.977A>C (p.Gln326Pro) http://identifiers.org/clinvar/327924 ^@ NM_001130823.2(DNMT1):c.410C>T (p.Thr137Met) http://identifiers.org/clinvar/308626 ^@ NM_198578.3(LRRK2):c.3497-8delT http://identifiers.org/clinvar/308630 ^@ NM_198578.3(LRRK2):c.3778-9C>T http://identifiers.org/clinvar/310028 ^@ NM_001172696.1(TSFM):c.*895A>G http://identifiers.org/clinvar/327928 ^@ NM_001130823.2(DNMT1):c.81-12delT http://identifiers.org/clinvar/310030 ^@ NM_001172696.1(TSFM):c.*997G>C http://identifiers.org/clinvar/327929 ^@ NM_001130823.2(DNMT1):c.-34C>G http://identifiers.org/clinvar/316439 ^@ NM_014985.3(CEP152):c.-164T>C http://identifiers.org/clinvar/327936 ^@ NM_003331.4(TYK2):c.2716-10T>G http://identifiers.org/clinvar/316445 ^@ NM_031226.2(CYP19A1):c.*2257A>G http://identifiers.org/clinvar/316446 ^@ NM_031226.2(CYP19A1):c.*2192T>C http://identifiers.org/clinvar/308632 ^@ NM_198578.3(LRRK2):c.3969A>G (p.Gln1323=) http://identifiers.org/clinvar/327938 ^@ NM_003331.4(TYK2):c.2658G>A (p.Ala886=) http://identifiers.org/clinvar/308636 ^@ NM_198578.3(LRRK2):c.4930A>G (p.Asn1644Asp) http://identifiers.org/clinvar/308638 ^@ NM_198578.3(LRRK2):c.5270A>G (p.Asn1757Ser) http://identifiers.org/clinvar/327949 ^@ NM_003331.4(TYK2):c.1534G>A (p.Gly512Arg) http://identifiers.org/clinvar/316448 ^@ NM_031226.2(CYP19A1):c.*2155T>C http://identifiers.org/clinvar/316455 ^@ NM_031226.2(CYP19A1):c.*1296T>C http://identifiers.org/clinvar/316456 ^@ NM_031226.2(CYP19A1):c.*1069C>T http://identifiers.org/clinvar/327953 ^@ NM_003331.4(TYK2):c.879C>T (p.Ile293=) http://identifiers.org/clinvar/316457 ^@ NM_031226.2(CYP19A1):c.*1019C>T http://identifiers.org/clinvar/327954 ^@ NM_003331.4(TYK2):c.737A>G (p.Gln246Arg) http://identifiers.org/clinvar/310038 ^@ NM_000552.4(VWF):c.7730-4C>G http://identifiers.org/clinvar/308639 ^@ NM_198578.3(LRRK2):c.5510-9A>G http://identifiers.org/clinvar/308641 ^@ NM_198578.3(LRRK2):c.6281-3dupT http://identifiers.org/clinvar/316460 ^@ NM_031226.2(CYP19A1):c.*638G>T http://identifiers.org/clinvar/327955 ^@ NM_003331.4(TYK2):c.661C>T (p.Arg221Trp) http://identifiers.org/clinvar/310049 ^@ NM_000552.4(VWF):c.6798+13G>A http://identifiers.org/clinvar/327956 ^@ NM_003331.4(TYK2):c.630-3C>T http://identifiers.org/clinvar/316464 ^@ NM_031226.2(CYP19A1):c.*191delC http://identifiers.org/clinvar/308642 ^@ NM_198578.3(LRRK2):c.6582T>C (p.Val2194=) http://identifiers.org/clinvar/316468 ^@ NM_031226.2(CYP19A1):c.*108A>G http://identifiers.org/clinvar/316474 ^@ NM_031226.2(CYP19A1):c.629-8dupT http://identifiers.org/clinvar/316476 ^@ NM_031226.2(CYP19A1):c.602C>T (p.Thr201Met) http://identifiers.org/clinvar/310055 ^@ NM_000552.4(VWF):c.5876T>G (p.Val1959Gly) http://identifiers.org/clinvar/327958 ^@ NM_003331.4(TYK2):c.590G>A (p.Arg197His) http://identifiers.org/clinvar/316480 ^@ NM_031226.2(CYP19A1):c.49G>A (p.Val17Met) http://identifiers.org/clinvar/327959 ^@ NM_003331.4(TYK2):c.513G>A (p.Ser171=) http://identifiers.org/clinvar/316484 ^@ NM_182758.3(WDR72):c.*3936G>A http://identifiers.org/clinvar/316487 ^@ NM_182758.3(WDR72):c.*3734A>G http://identifiers.org/clinvar/308645 ^@ NM_198578.3(LRRK2):c.6844-14_6844-13insA http://identifiers.org/clinvar/327961 ^@ NM_003331.4(TYK2):c.114C>A (p.Gly38=) http://identifiers.org/clinvar/327963 ^@ NM_003331.4(TYK2):c.-21+7T>G http://identifiers.org/clinvar/308649 ^@ NM_198578.3(LRRK2):c.*84G>A http://identifiers.org/clinvar/308657 ^@ NM_198578.3(LRRK2):c.*384C>T http://identifiers.org/clinvar/316496 ^@ NM_182758.3(WDR72):c.*3423A>C http://identifiers.org/clinvar/316498 ^@ NM_182758.3(WDR72):c.*3126T>C http://identifiers.org/clinvar/327970 ^@ NM_001005360.2(DNM2):c.-153G>T http://identifiers.org/clinvar/308660 ^@ NM_198578.3(LRRK2):c.*615T>A http://identifiers.org/clinvar/310063 ^@ NM_000552.4(VWF):c.4138A>G (p.Ile1380Val) http://identifiers.org/clinvar/308661 ^@ NM_198578.3(LRRK2):c.*721G>T http://identifiers.org/clinvar/316499 ^@ NM_182758.3(WDR72):c.*3114A>G http://identifiers.org/clinvar/327973 ^@ NM_001005360.2(DNM2):c.162-9C>A http://identifiers.org/clinvar/316500 ^@ NM_182758.3(WDR72):c.*2955A>G http://identifiers.org/clinvar/310064 ^@ NM_000552.4(VWF):c.4103T>C (p.Ile1368Thr) http://identifiers.org/clinvar/308663 ^@ NM_198578.3(LRRK2):c.*936dupT http://identifiers.org/clinvar/308670 ^@ NM_198578.3(LRRK2):c.*1035T>C http://identifiers.org/clinvar/308671 ^@ NM_198578.3(LRRK2):c.*1069A>G http://identifiers.org/clinvar/316504 ^@ NM_182758.3(WDR72):c.*2785G>A http://identifiers.org/clinvar/327975 ^@ NM_001005360.2(DNM2):c.528C>T (p.Pro176=) http://identifiers.org/clinvar/310066 ^@ NM_000552.4(VWF):c.3952G>A (p.Val1318Met) http://identifiers.org/clinvar/327977 ^@ NM_001005360.2(DNM2):c.890G>A (p.Arg297His) http://identifiers.org/clinvar/310067 ^@ NM_000552.4(VWF):c.3720G>A (p.Pro1240=) http://identifiers.org/clinvar/327980 ^@ NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) http://identifiers.org/clinvar/308673 ^@ NM_198578.3(LRRK2):c.*1181C>T http://identifiers.org/clinvar/308683 ^@ NM_153026.2(PRICKLE1):c.*1283G>T http://identifiers.org/clinvar/327982 ^@ NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser) http://identifiers.org/clinvar/327983 ^@ NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) http://identifiers.org/clinvar/308698 ^@ NM_153026.2(PRICKLE1):c.*233C>T http://identifiers.org/clinvar/327989 ^@ NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) http://identifiers.org/clinvar/310069 ^@ NM_000552.4(VWF):c.3539-15A>G http://identifiers.org/clinvar/327990 ^@ NM_001005360.2(DNM2):c.2511G>A (p.Arg837=) http://identifiers.org/clinvar/316510 ^@ NM_182758.3(WDR72):c.*2676_*2677insGT http://identifiers.org/clinvar/327992 ^@ NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val) http://identifiers.org/clinvar/327994 ^@ NM_001005360.2(DNM2):c.*10G>A http://identifiers.org/clinvar/310072 ^@ NM_000552.4(VWF):c.3162G>C (p.Thr1054=) http://identifiers.org/clinvar/308704 ^@ NM_153026.2(PRICKLE1):c.1639+15G>T http://identifiers.org/clinvar/310073 ^@ NM_000552.4(VWF):c.2547-5C>T http://identifiers.org/clinvar/328005 ^@ NM_001005360.2(DNM2):c.*268A>T http://identifiers.org/clinvar/328007 ^@ NM_001005360.2(DNM2):c.*385C>T http://identifiers.org/clinvar/316512 ^@ NM_182758.3(WDR72):c.*2674_*2675insGTATAT http://identifiers.org/clinvar/316514 ^@ NM_182758.3(WDR72):c.*2667A>G http://identifiers.org/clinvar/310075 ^@ NM_000552.4(VWF):c.2281+13C>T http://identifiers.org/clinvar/310077 ^@ NM_000552.4(VWF):c.2025G>A (p.Pro675=) http://identifiers.org/clinvar/310080 ^@ NM_000552.4(VWF):c.1794C>T (p.Ala598=) http://identifiers.org/clinvar/308714 ^@ NM_153026.2(PRICKLE1):c.-190C>G http://identifiers.org/clinvar/316520 ^@ NM_182758.3(WDR72):c.*2616C>T http://identifiers.org/clinvar/316526 ^@ NM_182758.3(WDR72):c.*2613_*2614insCACACATA http://identifiers.org/clinvar/308774 ^@ NM_020638.2(FGF23):c.*1925A>G http://identifiers.org/clinvar/316527 ^@ NM_182758.3(WDR72):c.*2611_*2612insCACACA http://identifiers.org/clinvar/328013 ^@ NM_001005360.2(DNM2):c.*607G>A http://identifiers.org/clinvar/308782 ^@ NM_020638.2(FGF23):c.*1079A>G http://identifiers.org/clinvar/328020 ^@ NM_001128849.1(SMARCA4):c.355+9C>T http://identifiers.org/clinvar/328021 ^@ NM_001128849.1(SMARCA4):c.356-14A>G http://identifiers.org/clinvar/310081 ^@ NM_000552.4(VWF):c.1752C>T (p.Cys584=) http://identifiers.org/clinvar/316529 ^@ NM_182758.3(WDR72):c.*2593G>T http://identifiers.org/clinvar/308789 ^@ NM_020638.2(FGF23):c.*388G>A http://identifiers.org/clinvar/310083 ^@ NM_000552.4(VWF):c.1730-18_1730-12delGCTCCTC http://identifiers.org/clinvar/328025 ^@ NM_001128849.1(SMARCA4):c.1761+6C>T http://identifiers.org/clinvar/328029 ^@ NM_001128849.1(SMARCA4):c.2232G>C (p.Lys744Asn) http://identifiers.org/clinvar/308793 ^@ NM_020638.2(FGF23):c.*367_*372delAAAAAA http://identifiers.org/clinvar/310085 ^@ NM_000552.4(VWF):c.1142A>G (p.Asn381Ser) http://identifiers.org/clinvar/310088 ^@ NM_000552.4(VWF):c.858C>T (p.Thr286=) http://identifiers.org/clinvar/328033 ^@ NM_001128849.1(SMARCA4):c.3547-11T>C http://identifiers.org/clinvar/328039 ^@ NM_001128849.1(SMARCA4):c.4328G>A (p.Arg1443Gln) http://identifiers.org/clinvar/308794 ^@ NM_020638.2(FGF23):c.*340_*344delTAAAA http://identifiers.org/clinvar/316534 ^@ NM_182758.3(WDR72):c.*2592_*2593insTTGTGTGT http://identifiers.org/clinvar/316535 ^@ NM_182758.3(WDR72):c.*2592_*2593insTTGTGTGTGT http://identifiers.org/clinvar/310089 ^@ NM_000552.4(VWF):c.250C>T (p.Leu84Phe) http://identifiers.org/clinvar/328044 ^@ NM_001128849.1(SMARCA4):c.*299C>T http://identifiers.org/clinvar/316538 ^@ NM_182758.3(WDR72):c.*2360C>T http://identifiers.org/clinvar/310091 ^@ NM_000552.4(VWF):c.55+8C>A http://identifiers.org/clinvar/308796 ^@ NM_020638.2(FGF23):c.*278G>C http://identifiers.org/clinvar/308799 ^@ NM_020638.2(FGF23):c.*93G>A http://identifiers.org/clinvar/316540 ^@ NM_182758.3(WDR72):c.*2050C>A http://identifiers.org/clinvar/328051 ^@ NM_000527.4(LDLR):c.940+9C>T http://identifiers.org/clinvar/310093 ^@ NM_000552.4(VWF):c.-107C>G http://identifiers.org/clinvar/310094 ^@ NM_000552.4(VWF):c.-131G>C http://identifiers.org/clinvar/328055 ^@ NM_000527.4(LDLR):c.2389+7G>A http://identifiers.org/clinvar/308801 ^@ NM_020638.2(FGF23):c.*28C>G http://identifiers.org/clinvar/328058 ^@ NM_000527.4(LDLR):c.*315G>C http://identifiers.org/clinvar/316543 ^@ NM_182758.3(WDR72):c.*1932T>G http://identifiers.org/clinvar/308802 ^@ NM_020638.2(FGF23):c.*23T>G http://identifiers.org/clinvar/328065 ^@ NM_000527.4(LDLR):c.*523G>T http://identifiers.org/clinvar/316546 ^@ NM_182758.3(WDR72):c.*1739G>A http://identifiers.org/clinvar/310095 ^@ NM_001065.3(TNFRSF1A):c.*394A>T http://identifiers.org/clinvar/308804 ^@ NM_020638.2(FGF23):c.555G>C (p.Ser185=) http://identifiers.org/clinvar/328072 ^@ NM_000527.4(LDLR):c.*773A>G http://identifiers.org/clinvar/316551 ^@ NM_182758.3(WDR72):c.*1533C>T http://identifiers.org/clinvar/328076 ^@ NM_000527.4(LDLR):c.*854G>T http://identifiers.org/clinvar/328080 ^@ NM_000527.4(LDLR):c.*982G>C http://identifiers.org/clinvar/316562 ^@ NM_182758.3(WDR72):c.*1099G>C http://identifiers.org/clinvar/328083 ^@ NM_000527.4(LDLR):c.*1133G>C http://identifiers.org/clinvar/308806 ^@ NM_020638.2(FGF23):c.515C>T (p.Pro172Leu) http://identifiers.org/clinvar/308721 ^@ NM_016123.3(IRAK4):c.-75C>T http://identifiers.org/clinvar/310098 ^@ NM_001065.3(TNFRSF1A):c.*372_*376delGTTTT http://identifiers.org/clinvar/328087 ^@ NM_000527.4(LDLR):c.*1216dupA http://identifiers.org/clinvar/316566 ^@ NM_182758.3(WDR72):c.*913G>C http://identifiers.org/clinvar/308724 ^@ NM_016123.3(IRAK4):c.-16C>G http://identifiers.org/clinvar/316568 ^@ NM_182758.3(WDR72):c.*588G>A http://identifiers.org/clinvar/316570 ^@ NM_182758.3(WDR72):c.*499G>T http://identifiers.org/clinvar/310099 ^@ NM_001065.3(TNFRSF1A):c.*374T>G http://identifiers.org/clinvar/328091 ^@ NM_000527.4(LDLR):c.*1262T>C http://identifiers.org/clinvar/308725 ^@ NM_016123.3(IRAK4):c.318C>G (p.Pro106=) http://identifiers.org/clinvar/328092 ^@ NM_000527.4(LDLR):c.*1268C>T http://identifiers.org/clinvar/316571 ^@ NM_182758.3(WDR72):c.*452_*456delATTTG http://identifiers.org/clinvar/328104 ^@ NM_000527.4(LDLR):c.*1600G>T http://identifiers.org/clinvar/316572 ^@ NM_182758.3(WDR72):c.*260delC http://identifiers.org/clinvar/328105 ^@ NM_000527.4(LDLR):c.*1609G>T http://identifiers.org/clinvar/316573 ^@ NM_182758.3(WDR72):c.*179A>G http://identifiers.org/clinvar/328112 ^@ NM_000527.4(LDLR):c.*1895A>T http://identifiers.org/clinvar/328118 ^@ NM_000527.4(LDLR):c.*2054G>A http://identifiers.org/clinvar/308734 ^@ NM_016123.3(IRAK4):c.*84_*86delCTT http://identifiers.org/clinvar/328120 ^@ NM_000527.4(LDLR):c.*2173T>C http://identifiers.org/clinvar/328130 ^@ NM_000121.3(EPOR):c.*684C>A http://identifiers.org/clinvar/328131 ^@ NM_000121.3(EPOR):c.*670G>A http://identifiers.org/clinvar/310106 ^@ NM_001065.3(TNFRSF1A):c.1206C>T (p.Ser402=) http://identifiers.org/clinvar/328132 ^@ NM_000121.3(EPOR):c.*619C>T http://identifiers.org/clinvar/310110 ^@ NM_001065.3(TNFRSF1A):c.753G>A (p.Ser251=) http://identifiers.org/clinvar/328134 ^@ NM_000121.3(EPOR):c.*504G>A http://identifiers.org/clinvar/310115 ^@ NM_001065.3(TNFRSF1A):c.-162T>C http://identifiers.org/clinvar/316575 ^@ NM_182758.3(WDR72):c.*33C>T http://identifiers.org/clinvar/308736 ^@ NM_016123.3(IRAK4):c.*270C>T http://identifiers.org/clinvar/328137 ^@ NM_000121.3(EPOR):c.*35G>A http://identifiers.org/clinvar/328138 ^@ NM_000121.3(EPOR):c.1444G>A (p.Asp482Asn) http://identifiers.org/clinvar/328144 ^@ NM_000121.3(EPOR):c.1041G>A (p.Pro347=) http://identifiers.org/clinvar/310117 ^@ NM_001038.5(SCNN1A):c.*1016_*1019delTGTT http://identifiers.org/clinvar/316578 ^@ NM_182758.3(WDR72):c.3162G>A (p.Pro1054=) http://identifiers.org/clinvar/310124 ^@ NM_001038.5(SCNN1A):c.*580A>C http://identifiers.org/clinvar/308739 ^@ NM_016123.3(IRAK4):c.*574C>T http://identifiers.org/clinvar/328152 ^@ NM_000121.3(EPOR):c.438C>T (p.Asp146=) http://identifiers.org/clinvar/310127 ^@ NM_001038.5(SCNN1A):c.*114G>A http://identifiers.org/clinvar/328154 ^@ NM_000121.3(EPOR):c.168G>T (p.Arg56=) http://identifiers.org/clinvar/316583 ^@ NM_182758.3(WDR72):c.2741T>C (p.Leu914Ser) http://identifiers.org/clinvar/316585 ^@ NM_182758.3(WDR72):c.2707T>G (p.Tyr903Asp) http://identifiers.org/clinvar/316591 ^@ NM_182758.3(WDR72):c.1839G>A (p.Val613=) http://identifiers.org/clinvar/316597 ^@ NM_182758.3(WDR72):c.1207G>A (p.Gly403Arg) http://identifiers.org/clinvar/308741 ^@ NM_016123.3(IRAK4):c.*623A>G http://identifiers.org/clinvar/328169 ^@ NM_002743.3(PRKCSH):c.82C>T (p.His28Tyr) http://identifiers.org/clinvar/308746 ^@ NM_016123.3(IRAK4):c.*1162T>G http://identifiers.org/clinvar/328170 ^@ NM_002743.3(PRKCSH):c.327C>T (p.Gly109=) http://identifiers.org/clinvar/308747 ^@ NM_016123.3(IRAK4):c.*1272G>T http://identifiers.org/clinvar/308751 ^@ NM_016123.3(IRAK4):c.*1668C>G http://identifiers.org/clinvar/310139 ^@ NM_001038.5(SCNN1A):c.1299C>T (p.Tyr433=) http://identifiers.org/clinvar/328171 ^@ NM_002743.3(PRKCSH):c.351-5C>T http://identifiers.org/clinvar/316606 ^@ NM_182758.3(WDR72):c.-7G>A http://identifiers.org/clinvar/328175 ^@ NM_002743.3(PRKCSH):c.469-10G>A http://identifiers.org/clinvar/328181 ^@ NM_002743.3(PRKCSH):c.753G>A (p.Ala251=) http://identifiers.org/clinvar/316614 ^@ NM_004580.4(RAB27A):c.*1922_*1923insTAA http://identifiers.org/clinvar/316616 ^@ NM_004580.4(RAB27A):c.*1878T>C http://identifiers.org/clinvar/316617 ^@ NM_004580.4(RAB27A):c.*1863C>T http://identifiers.org/clinvar/316620 ^@ NM_004580.4(RAB27A):c.*1672T>C http://identifiers.org/clinvar/310140 ^@ NM_001038.5(SCNN1A):c.1241A>G (p.Gln414Arg) http://identifiers.org/clinvar/316621 ^@ NM_004580.4(RAB27A):c.*1662A>T http://identifiers.org/clinvar/328188 ^@ NM_002743.3(PRKCSH):c.976G>A (p.Ala326Thr) http://identifiers.org/clinvar/308753 ^@ NM_016123.3(IRAK4):c.*1777A>T http://identifiers.org/clinvar/310141 ^@ NM_001038.5(SCNN1A):c.1177G>A (p.Asp393Asn) http://identifiers.org/clinvar/316623 ^@ NM_004580.4(RAB27A):c.*1612dupT http://identifiers.org/clinvar/316625 ^@ NM_004580.4(RAB27A):c.*1485G>A http://identifiers.org/clinvar/316626 ^@ NM_004580.4(RAB27A):c.*1473T>C http://identifiers.org/clinvar/310142 ^@ NM_001038.5(SCNN1A):c.1073A>G (p.Glu358Gly) http://identifiers.org/clinvar/328194 ^@ NM_002743.3(PRKCSH):c.1363C>T (p.Pro455Ser) http://identifiers.org/clinvar/328203 ^@ NM_000455.4(STK11):c.-1055C>T http://identifiers.org/clinvar/310149 ^@ NM_001038.5(SCNN1A):c.746G>A (p.Arg249Lys) http://identifiers.org/clinvar/308755 ^@ NM_016123.3(IRAK4):c.*1887C>T http://identifiers.org/clinvar/328204 ^@ NM_000455.4(STK11):c.-1024C>T http://identifiers.org/clinvar/328205 ^@ NM_000455.4(STK11):c.-925C>T http://identifiers.org/clinvar/316628 ^@ NM_004580.4(RAB27A):c.*1418T>A http://identifiers.org/clinvar/310154 ^@ NM_001038.5(SCNN1A):c.74A>G (p.Lys25Arg) http://identifiers.org/clinvar/316629 ^@ NM_004580.4(RAB27A):c.*1392A>C http://identifiers.org/clinvar/310155 ^@ NM_001038.5(SCNN1A):c.-48A>G http://identifiers.org/clinvar/310161 ^@ NM_001038.5(SCNN1A):c.-156C>T http://identifiers.org/clinvar/310170 ^@ NM_002076.3(GNS):c.*2699G>C http://identifiers.org/clinvar/310175 ^@ NM_002076.3(GNS):c.*2361C>G http://identifiers.org/clinvar/308760 ^@ NM_016123.3(IRAK4):c.*2076C>T http://identifiers.org/clinvar/328209 ^@ NM_000455.4(STK11):c.-577C>T http://identifiers.org/clinvar/308765 ^@ NM_016123.3(IRAK4):c.*2433T>C http://identifiers.org/clinvar/316638 ^@ NM_004580.4(RAB27A):c.*731G>T http://identifiers.org/clinvar/328210 ^@ NM_000455.4(STK11):c.-562G>C http://identifiers.org/clinvar/308766 ^@ NM_016123.3(IRAK4):c.*2471G>A http://identifiers.org/clinvar/308767 ^@ NM_016123.3(IRAK4):c.*2563G>A http://identifiers.org/clinvar/328211 ^@ NM_000455.4(STK11):c.-546G>A http://identifiers.org/clinvar/316639 ^@ NM_004580.4(RAB27A):c.*730T>C http://identifiers.org/clinvar/308808 ^@ NM_020638.2(FGF23):c.57G>A (p.Met19Ile) http://identifiers.org/clinvar/308814 ^@ NM_001017535.1(VDR):c.*2878A>G http://identifiers.org/clinvar/308827 ^@ NM_001017535.1(VDR):c.*2168G>C http://identifiers.org/clinvar/308830 ^@ NM_001017535.1(VDR):c.*2118_*2122delAAAAA http://identifiers.org/clinvar/328213 ^@ NM_000455.4(STK11):c.-461G>A http://identifiers.org/clinvar/316641 ^@ NM_004580.4(RAB27A):c.*561A>T http://identifiers.org/clinvar/328214 ^@ NM_000455.4(STK11):c.-447C>T http://identifiers.org/clinvar/308836 ^@ NM_001017535.1(VDR):c.*2034A>T http://identifiers.org/clinvar/328217 ^@ NM_000455.4(STK11):c.-311C>T http://identifiers.org/clinvar/308837 ^@ NM_001017535.1(VDR):c.*2023G>A http://identifiers.org/clinvar/308838 ^@ NM_001017535.1(VDR):c.*1992C>T http://identifiers.org/clinvar/328220 ^@ NM_000455.4(STK11):c.-216A>C http://identifiers.org/clinvar/316643 ^@ NM_004580.4(RAB27A):c.*388G>C http://identifiers.org/clinvar/316644 ^@ NM_004580.4(RAB27A):c.*387A>G http://identifiers.org/clinvar/310176 ^@ NM_002076.3(GNS):c.*2032T>A http://identifiers.org/clinvar/310178 ^@ NM_002076.3(GNS):c.*1861delG http://identifiers.org/clinvar/310180 ^@ NM_002076.3(GNS):c.*1681C>G http://identifiers.org/clinvar/316646 ^@ NM_004580.4(RAB27A):c.*121A>G http://identifiers.org/clinvar/310187 ^@ NM_002076.3(GNS):c.*942A>G http://identifiers.org/clinvar/328221 ^@ NM_000455.4(STK11):c.-193C>G http://identifiers.org/clinvar/328222 ^@ NM_000455.4(STK11):c.-137C>T http://identifiers.org/clinvar/310193 ^@ NM_002076.3(GNS):c.*599T>A http://identifiers.org/clinvar/308840 ^@ NM_001017535.1(VDR):c.*1979C>G http://identifiers.org/clinvar/328225 ^@ NM_000455.4(STK11):c.-106C>T http://identifiers.org/clinvar/328226 ^@ NM_000455.4(STK11):c.-81A>G http://identifiers.org/clinvar/328228 ^@ NM_000455.4(STK11):c.-2G>T http://identifiers.org/clinvar/308842 ^@ NM_001017535.1(VDR):c.*1865G>A http://identifiers.org/clinvar/328232 ^@ NM_000455.4(STK11):c.*121A>C http://identifiers.org/clinvar/328236 ^@ NM_000455.4(STK11):c.*317C>G http://identifiers.org/clinvar/308843 ^@ NM_001017535.1(VDR):c.*1805A>T http://identifiers.org/clinvar/308863 ^@ NM_001017535.1(VDR):c.*437C>G http://identifiers.org/clinvar/328237 ^@ NM_000455.4(STK11):c.*365C>G http://identifiers.org/clinvar/316647 ^@ NM_004580.4(RAB27A):c.526A>T (p.Met176Leu) http://identifiers.org/clinvar/328239 ^@ NM_000455.4(STK11):c.*388A>G http://identifiers.org/clinvar/316653 ^@ NM_004580.4(RAB27A):c.-188A>G http://identifiers.org/clinvar/308864 ^@ NM_001017535.1(VDR):c.*409G>A http://identifiers.org/clinvar/308866 ^@ NM_001017535.1(VDR):c.*405G>T http://identifiers.org/clinvar/308867 ^@ NM_001017535.1(VDR):c.*387C>G http://identifiers.org/clinvar/310197 ^@ NM_002076.3(GNS):c.*411G>A http://identifiers.org/clinvar/310198 ^@ NM_002076.3(GNS):c.*380C>T http://identifiers.org/clinvar/328240 ^@ NM_000455.4(STK11):c.*413C>A http://identifiers.org/clinvar/328241 ^@ NM_000455.4(STK11):c.*483_*484delCT http://identifiers.org/clinvar/310199 ^@ NM_002076.3(GNS):c.*357T>C http://identifiers.org/clinvar/328243 ^@ NM_000455.4(STK11):c.*616T>C http://identifiers.org/clinvar/308868 ^@ NM_001017535.1(VDR):c.*308C>A http://identifiers.org/clinvar/308869 ^@ NM_001017535.1(VDR):c.*298C>T http://identifiers.org/clinvar/328246 ^@ NM_000455.4(STK11):c.*757C>T http://identifiers.org/clinvar/328248 ^@ NM_000528.3(MAN2B1):c.*105C>G http://identifiers.org/clinvar/328250 ^@ NM_000528.3(MAN2B1):c.*42G>A http://identifiers.org/clinvar/310203 ^@ NM_002076.3(GNS):c.*152G>A http://identifiers.org/clinvar/308876 ^@ NM_001017535.1(VDR):c.1131C>T (p.His377=) http://identifiers.org/clinvar/316657 ^@ NM_000236.2(LIPC):c.316G>A (p.Ala106Thr) http://identifiers.org/clinvar/308881 ^@ NM_001017535.1(VDR):c.908-14A>G http://identifiers.org/clinvar/310204 ^@ NM_002076.3(GNS):c.*37G>T http://identifiers.org/clinvar/308882 ^@ NM_001017535.1(VDR):c.889G>A (p.Val297Ile) http://identifiers.org/clinvar/328251 ^@ NM_000528.3(MAN2B1):c.2991C>T (p.Ile997=) http://identifiers.org/clinvar/316664 ^@ NM_000236.2(LIPC):c.591A>G (p.Gly197=) http://identifiers.org/clinvar/316669 ^@ NM_000236.2(LIPC):c.998G>A (p.Arg333Gln) http://identifiers.org/clinvar/308883 ^@ NM_001017535.1(VDR):c.755+13T>C http://identifiers.org/clinvar/308885 ^@ NM_001017535.1(VDR):c.146+9dupT http://identifiers.org/clinvar/310206 ^@ NM_002076.3(GNS):c.1434C>G (p.Val478=) http://identifiers.org/clinvar/316671 ^@ NM_000236.2(LIPC):c.1052-10C>G http://identifiers.org/clinvar/328262 ^@ NM_000528.3(MAN2B1):c.2260G>A (p.Glu754Lys) http://identifiers.org/clinvar/308886 ^@ NM_001017535.1(VDR):c.146+8C>T http://identifiers.org/clinvar/328263 ^@ NM_000528.3(MAN2B1):c.2047-5C>T http://identifiers.org/clinvar/308890 ^@ NM_001017535.1(VDR):c.-146C>T http://identifiers.org/clinvar/328264 ^@ NM_000528.3(MAN2B1):c.1935C>T (p.Asn645=) http://identifiers.org/clinvar/328265 ^@ NM_000528.3(MAN2B1):c.1845G>A (p.Thr615=) http://identifiers.org/clinvar/328266 ^@ NM_000528.3(MAN2B1):c.1668C>A (p.Asp556Glu) http://identifiers.org/clinvar/310211 ^@ NM_002076.3(GNS):c.285A>G (p.Arg95=) http://identifiers.org/clinvar/316675 ^@ NM_000236.2(LIPC):c.1169+11G>A http://identifiers.org/clinvar/308892 ^@ NM_001017535.1(VDR):c.-202T>C http://identifiers.org/clinvar/316684 ^@ NM_001018005.1(TPM1):c.-106C>T http://identifiers.org/clinvar/328268 ^@ NM_000528.3(MAN2B1):c.1503C>A (p.Cys501Ter) http://identifiers.org/clinvar/316687 ^@ NM_001018005.1(TPM1):c.249C>T (p.Ala83=) http://identifiers.org/clinvar/328269 ^@ NM_000528.3(MAN2B1):c.1435G>T (p.Ala479Ser) http://identifiers.org/clinvar/316691 ^@ NM_001018005.1(TPM1):c.*101_*104delCTCT http://identifiers.org/clinvar/328272 ^@ NM_000528.3(MAN2B1):c.1179C>T (p.Ser393=) http://identifiers.org/clinvar/310213 ^@ NM_002076.3(GNS):c.-29_-25dupTCCCG http://identifiers.org/clinvar/316692 ^@ NM_001018005.1(TPM1):c.*145A>G http://identifiers.org/clinvar/328277 ^@ NM_000528.3(MAN2B1):c.719G>A (p.Arg240Gln) http://identifiers.org/clinvar/310217 ^@ NM_014319.4(LEMD3):c.-6G>A http://identifiers.org/clinvar/316695 ^@ NM_000942.4(PPIB):c.*204dupA http://identifiers.org/clinvar/328282 ^@ NM_000528.3(MAN2B1):c.285C>T (p.Ala95=) http://identifiers.org/clinvar/316696 ^@ NM_000942.4(PPIB):c.*202dupT http://identifiers.org/clinvar/316698 ^@ NM_000942.4(PPIB):c.*189dupG http://identifiers.org/clinvar/328285 ^@ NM_000528.3(MAN2B1):c.-73G>T http://identifiers.org/clinvar/316701 ^@ NM_000942.4(PPIB):c.597C>T (p.Ile199=) http://identifiers.org/clinvar/316706 ^@ NM_000942.4(PPIB):c.-56C>A http://identifiers.org/clinvar/310220 ^@ NM_014319.4(LEMD3):c.345A>G (p.Pro115=) http://identifiers.org/clinvar/316725 ^@ NM_016630.6(SPG21):c.60A>G (p.Lys20=) http://identifiers.org/clinvar/308893 ^@ NM_001017535.1(VDR):c.-250G>A http://identifiers.org/clinvar/328293 ^@ NM_006397.2(RNASEH2A):c.637+13G>A http://identifiers.org/clinvar/310222 ^@ NM_014319.4(LEMD3):c.378C>T (p.Ser126=) http://identifiers.org/clinvar/328296 ^@ NM_006397.2(RNASEH2A):c.762-13C>G http://identifiers.org/clinvar/316737 ^@ NM_001101362.2(KBTBD13):c.252C>T (p.Cys84=) http://identifiers.org/clinvar/328299 ^@ NM_006397.2(RNASEH2A):c.*16G>T http://identifiers.org/clinvar/328302 ^@ NM_006397.2(RNASEH2A):c.*120C>T http://identifiers.org/clinvar/316741 ^@ NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) http://identifiers.org/clinvar/310224 ^@ NM_014319.4(LEMD3):c.618G>A (p.Glu206=) http://identifiers.org/clinvar/310226 ^@ NM_014319.4(LEMD3):c.673G>C (p.Glu225Gln) http://identifiers.org/clinvar/328303 ^@ NM_006563.4(KLF1):c.*454C>G http://identifiers.org/clinvar/316743 ^@ NM_001101362.2(KBTBD13):c.516C>G (p.Asp172Glu) http://identifiers.org/clinvar/316744 ^@ NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) http://identifiers.org/clinvar/328306 ^@ NM_006563.4(KLF1):c.*296G>A http://identifiers.org/clinvar/316746 ^@ NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) http://identifiers.org/clinvar/316753 ^@ NM_001101362.2(KBTBD13):c.*41C>T http://identifiers.org/clinvar/328311 ^@ NM_006563.4(KLF1):c.*185G>A http://identifiers.org/clinvar/316758 ^@ NM_001101362.2(KBTBD13):c.*387dupA http://identifiers.org/clinvar/328316 ^@ NM_006563.4(KLF1):c.544T>C (p.Phe182Leu) http://identifiers.org/clinvar/328318 ^@ NM_006563.4(KLF1):c.478G>A (p.Glu160Lys) http://identifiers.org/clinvar/328322 ^@ NM_006563.4(KLF1):c.286C>T (p.Leu96=) http://identifiers.org/clinvar/328325 ^@ NM_006563.4(KLF1):c.115A>C (p.Met39Leu) http://identifiers.org/clinvar/310228 ^@ NM_014319.4(LEMD3):c.882C>T (p.Leu294=) http://identifiers.org/clinvar/310232 ^@ NM_014319.4(LEMD3):c.1075G>A (p.Val359Ile) http://identifiers.org/clinvar/308895 ^@ NM_001844.4(COL2A1):c.*305G>A http://identifiers.org/clinvar/308906 ^@ NM_001844.4(COL2A1):c.4117G>A (p.Val1373Ile) http://identifiers.org/clinvar/310234 ^@ NM_014319.4(LEMD3):c.1523-12C>T http://identifiers.org/clinvar/310242 ^@ NM_014319.4(LEMD3):c.2658G>A (p.Lys886=) http://identifiers.org/clinvar/310250 ^@ NM_014319.4(LEMD3):c.*884A>G http://identifiers.org/clinvar/308909 ^@ NM_001844.4(COL2A1):c.3659T>C (p.Met1220Thr) http://identifiers.org/clinvar/316761 ^@ NM_001101362.2(KBTBD13):c.*684C>T http://identifiers.org/clinvar/308929 ^@ NM_001844.4(COL2A1):c.1049C>T (p.Pro350Leu) http://identifiers.org/clinvar/310255 ^@ NM_014319.4(LEMD3):c.*1156G>A http://identifiers.org/clinvar/316774 ^@ NM_001101362.2(KBTBD13):c.*1514T>C http://identifiers.org/clinvar/310256 ^@ NM_014319.4(LEMD3):c.*1295G>A http://identifiers.org/clinvar/316777 ^@ NM_001101362.2(KBTBD13):c.*1611G>A http://identifiers.org/clinvar/308933 ^@ NM_001844.4(COL2A1):c.610-7G>A http://identifiers.org/clinvar/310258 ^@ NM_014319.4(LEMD3):c.*1389G>T http://identifiers.org/clinvar/316778 ^@ NM_001101362.2(KBTBD13):c.*1650T>C http://identifiers.org/clinvar/308935 ^@ NM_001844.4(COL2A1):c.507C>T (p.Pro169=) http://identifiers.org/clinvar/310259 ^@ NM_014319.4(LEMD3):c.*1481C>T http://identifiers.org/clinvar/308949 ^@ NM_000289.5(PFKM):c.453G>A (p.Thr151=) http://identifiers.org/clinvar/308953 ^@ NM_000289.5(PFKM):c.1063-7C>T http://identifiers.org/clinvar/328326 ^@ NM_000159.3(GCDH):c.-67dupT http://identifiers.org/clinvar/328334 ^@ NM_000159.3(GCDH):c.*70G>A http://identifiers.org/clinvar/310262 ^@ NM_014319.4(LEMD3):c.*1880C>T http://identifiers.org/clinvar/310269 ^@ NM_021150.3(GRIP1):c.*1422_*1426delAAGTA http://identifiers.org/clinvar/308964 ^@ NM_000289.5(PFKM):c.*622G>A http://identifiers.org/clinvar/328337 ^@ NM_024407.4(NDUFS7):c.270C>T (p.Ala90=) http://identifiers.org/clinvar/328339 ^@ NM_024407.4(NDUFS7):c.561C>A (p.Ala187=) http://identifiers.org/clinvar/316782 ^@ NM_004727.2(SLC24A1):c.-161G>A http://identifiers.org/clinvar/328350 ^@ NM_000156.5(GAMT):c.182G>A (p.Gly61Glu) http://identifiers.org/clinvar/328356 ^@ NM_000435.2(NOTCH3):c.*937T>C http://identifiers.org/clinvar/316784 ^@ NM_004727.2(SLC24A1):c.-73A>G http://identifiers.org/clinvar/310278 ^@ NM_021150.3(GRIP1):c.*930T>A http://identifiers.org/clinvar/310284 ^@ NM_021150.3(GRIP1):c.*723_*725dupGAG http://identifiers.org/clinvar/310288 ^@ NM_021150.3(GRIP1):c.*655_*657dupATG http://identifiers.org/clinvar/316789 ^@ NM_004727.2(SLC24A1):c.222G>T (p.Met74Ile) http://identifiers.org/clinvar/310290 ^@ NM_021150.3(GRIP1):c.*616T>C http://identifiers.org/clinvar/310291 ^@ NM_021150.3(GRIP1):c.*499A>G http://identifiers.org/clinvar/310293 ^@ NM_021150.3(GRIP1):c.*417G>A http://identifiers.org/clinvar/328357 ^@ NM_000435.2(NOTCH3):c.*890C>T http://identifiers.org/clinvar/316793 ^@ NM_004727.2(SLC24A1):c.980C>T (p.Thr327Ile) http://identifiers.org/clinvar/328359 ^@ NM_000435.2(NOTCH3):c.*837G>A http://identifiers.org/clinvar/316794 ^@ NM_004727.2(SLC24A1):c.1374C>T (p.His458=) http://identifiers.org/clinvar/328363 ^@ NM_000435.2(NOTCH3):c.*563T>C http://identifiers.org/clinvar/316804 ^@ NM_004727.2(SLC24A1):c.2661A>G (p.Glu887=) http://identifiers.org/clinvar/328365 ^@ NM_000435.2(NOTCH3):c.*382T>G http://identifiers.org/clinvar/310306 ^@ NM_021150.3(GRIP1):c.1631C>G (p.Pro544Arg) http://identifiers.org/clinvar/316807 ^@ NM_004727.2(SLC24A1):c.2884-15G>A http://identifiers.org/clinvar/328366 ^@ NM_000435.2(NOTCH3):c.*370A>G http://identifiers.org/clinvar/328374 ^@ NM_000435.2(NOTCH3):c.6166G>A (p.Ala2056Thr) http://identifiers.org/clinvar/328382 ^@ NM_000435.2(NOTCH3):c.5466C>T (p.Ser1822=) http://identifiers.org/clinvar/308967 ^@ NM_003482.3(KMT2D):c.*2642C>T http://identifiers.org/clinvar/316810 ^@ NM_004727.2(SLC24A1):c.*40C>A http://identifiers.org/clinvar/308968 ^@ NM_003482.3(KMT2D):c.*2549G>A http://identifiers.org/clinvar/310310 ^@ NM_021150.3(GRIP1):c.964G>A (p.Ala322Thr) http://identifiers.org/clinvar/328393 ^@ NM_000435.2(NOTCH3):c.3704A>T (p.His1235Leu) http://identifiers.org/clinvar/308969 ^@ NM_003482.3(KMT2D):c.*2387C>T http://identifiers.org/clinvar/308977 ^@ NM_003482.3(KMT2D):c.*1694A>T http://identifiers.org/clinvar/310315 ^@ NM_021150.3(GRIP1):c.240A>G (p.Val80=) http://identifiers.org/clinvar/316811 ^@ NM_004727.2(SLC24A1):c.*295G>A http://identifiers.org/clinvar/310321 ^@ NM_000619.2(IFNG):c.*180C>T http://identifiers.org/clinvar/308987 ^@ NM_003482.3(KMT2D):c.*463dupC http://identifiers.org/clinvar/310326 ^@ NM_000619.2(IFNG):c.-5A>G http://identifiers.org/clinvar/308989 ^@ NM_003482.3(KMT2D):c.*455A>C http://identifiers.org/clinvar/308991 ^@ NM_003482.3(KMT2D):c.*298C>T http://identifiers.org/clinvar/328396 ^@ NM_000435.2(NOTCH3):c.3461-15C>T http://identifiers.org/clinvar/308999 ^@ NM_003482.3(KMT2D):c.15786C>T (p.Ala5262=) http://identifiers.org/clinvar/309001 ^@ NM_003482.3(KMT2D):c.15686G>A (p.Arg5229His) http://identifiers.org/clinvar/310328 ^@ NM_000619.2(IFNG):c.-34T>G http://identifiers.org/clinvar/316815 ^@ NM_004727.2(SLC24A1):c.*732T>G http://identifiers.org/clinvar/328398 ^@ NM_000435.2(NOTCH3):c.3120C>T (p.Cys1040=) http://identifiers.org/clinvar/310369 ^@ NM_000365.5(TPI1):c.*260G>A http://identifiers.org/clinvar/328403 ^@ NM_000435.2(NOTCH3):c.2589G>A (p.Ser863=) http://identifiers.org/clinvar/309011 ^@ NM_003482.3(KMT2D):c.13633G>T (p.Val4545Phe) http://identifiers.org/clinvar/316822 ^@ NM_004727.2(SLC24A1):c.*1474A>G http://identifiers.org/clinvar/328407 ^@ NM_000435.2(NOTCH3):c.2082C>G (p.Pro694=) http://identifiers.org/clinvar/310329 ^@ NM_000239.2(LYZ):c.-1C>T http://identifiers.org/clinvar/310334 ^@ NM_000239.2(LYZ):c.*169G>A http://identifiers.org/clinvar/316834 ^@ NM_002755.3(MAP2K1):c.-216_-215dupCG http://identifiers.org/clinvar/310335 ^@ NM_000239.2(LYZ):c.*178C>T http://identifiers.org/clinvar/316839 ^@ NM_002755.3(MAP2K1):c.*148_*149delTT http://identifiers.org/clinvar/309014 ^@ NM_003482.3(KMT2D):c.13386C>T (p.Leu4462=) http://identifiers.org/clinvar/310342 ^@ NM_000239.2(LYZ):c.*331G>A http://identifiers.org/clinvar/309015 ^@ NM_003482.3(KMT2D):c.13259G>A (p.Arg4420Gln) http://identifiers.org/clinvar/316841 ^@ NM_002755.3(MAP2K1):c.*308C>A http://identifiers.org/clinvar/310346 ^@ NM_000239.2(LYZ):c.*442T>G http://identifiers.org/clinvar/316847 ^@ NM_002755.3(MAP2K1):c.*890A>G http://identifiers.org/clinvar/328411 ^@ NM_000435.2(NOTCH3):c.1426A>T (p.Ser476Cys) http://identifiers.org/clinvar/328413 ^@ NM_000435.2(NOTCH3):c.964G>A (p.Val322Met) http://identifiers.org/clinvar/316848 ^@ NM_002755.3(MAP2K1):c.*897T>C http://identifiers.org/clinvar/328420 ^@ NM_000435.2(NOTCH3):c.203C>T (p.Pro68Leu) http://identifiers.org/clinvar/310407 ^@ NM_001131025.1(PEX5):c.-462_-461insCCG http://identifiers.org/clinvar/316851 ^@ NM_005902.3(SMAD3):c.-280C>A http://identifiers.org/clinvar/309016 ^@ NM_003482.3(KMT2D):c.13071G>C (p.Arg4357Ser) http://identifiers.org/clinvar/309019 ^@ NM_003482.3(KMT2D):c.12780A>G (p.Gln4260=) http://identifiers.org/clinvar/310410 ^@ NM_001131025.1(PEX5):c.-332G>A http://identifiers.org/clinvar/316853 ^@ NM_005902.3(SMAD3):c.-244G>A http://identifiers.org/clinvar/328424 ^@ NM_173483.3(CYP4F22):c.160C>T (p.Arg54Cys) http://identifiers.org/clinvar/316855 ^@ NM_005902.3(SMAD3):c.-217C>T http://identifiers.org/clinvar/328430 ^@ NM_173483.3(CYP4F22):c.461G>A (p.Arg154Gln) http://identifiers.org/clinvar/316861 ^@ NM_005902.3(SMAD3):c.607+9T>A http://identifiers.org/clinvar/310411 ^@ NM_001131025.1(PEX5):c.-298T>C http://identifiers.org/clinvar/310413 ^@ NM_001131025.1(PEX5):c.-243G>A http://identifiers.org/clinvar/316869 ^@ NM_005902.3(SMAD3):c.*292G>T http://identifiers.org/clinvar/328437 ^@ NM_173483.3(CYP4F22):c.850C>T (p.Arg284Trp) http://identifiers.org/clinvar/316871 ^@ NM_005902.3(SMAD3):c.*304C>T http://identifiers.org/clinvar/328444 ^@ NM_173483.3(CYP4F22):c.1006+13G>A http://identifiers.org/clinvar/316873 ^@ NM_005902.3(SMAD3):c.*402C>T http://identifiers.org/clinvar/316874 ^@ NM_005902.3(SMAD3):c.*419G>T http://identifiers.org/clinvar/316881 ^@ NM_005902.3(SMAD3):c.*626C>T http://identifiers.org/clinvar/309024 ^@ NM_003482.3(KMT2D):c.11945G>C (p.Arg3982Pro) http://identifiers.org/clinvar/316883 ^@ NM_005902.3(SMAD3):c.*654A>G http://identifiers.org/clinvar/328455 ^@ NM_173483.3(CYP4F22):c.*421dupC http://identifiers.org/clinvar/310416 ^@ NM_001131025.1(PEX5):c.-145G>A http://identifiers.org/clinvar/309025 ^@ NM_003482.3(KMT2D):c.11853_11855delGCA (p.Gln3954del) http://identifiers.org/clinvar/309033 ^@ NM_003482.3(KMT2D):c.10741-7A>G http://identifiers.org/clinvar/309038 ^@ NM_003482.3(KMT2D):c.8901C>G (p.Pro2967=) http://identifiers.org/clinvar/310376 ^@ NM_173353.3(TPH2):c.-52A>G http://identifiers.org/clinvar/310380 ^@ NM_173353.3(TPH2):c.262C>T (p.Arg88Cys) http://identifiers.org/clinvar/328462 ^@ NM_000215.3(JAK3):c.*1926A>G http://identifiers.org/clinvar/328470 ^@ NM_000215.3(JAK3):c.*1353dupT http://identifiers.org/clinvar/316884 ^@ NM_005902.3(SMAD3):c.*656C>A http://identifiers.org/clinvar/309040 ^@ NM_003482.3(KMT2D):c.8230-14C>T http://identifiers.org/clinvar/316886 ^@ NM_005902.3(SMAD3):c.*678C>A http://identifiers.org/clinvar/309044 ^@ NM_003482.3(KMT2D):c.7656T>C (p.Pro2552=) http://identifiers.org/clinvar/309047 ^@ NM_003482.3(KMT2D):c.7122C>T (p.Tyr2374=) http://identifiers.org/clinvar/316890 ^@ NM_005902.3(SMAD3):c.*925G>A http://identifiers.org/clinvar/328476 ^@ NM_000215.3(JAK3):c.*1038A>G http://identifiers.org/clinvar/310388 ^@ NM_173353.3(TPH2):c.1125A>T (p.Ala375=) http://identifiers.org/clinvar/328480 ^@ NM_000215.3(JAK3):c.*937G>A http://identifiers.org/clinvar/328481 ^@ NM_000215.3(JAK3):c.*847C>T http://identifiers.org/clinvar/316893 ^@ NM_005902.3(SMAD3):c.*1165A>G http://identifiers.org/clinvar/316904 ^@ NM_005902.3(SMAD3):c.*1493C>A http://identifiers.org/clinvar/309055 ^@ NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) http://identifiers.org/clinvar/328491 ^@ NM_000215.3(JAK3):c.*271G>T http://identifiers.org/clinvar/328498 ^@ NM_000215.3(JAK3):c.2772C>T (p.Ser924=) http://identifiers.org/clinvar/310389 ^@ NM_173353.3(TPH2):c.1257C>T (p.Tyr419=) http://identifiers.org/clinvar/328502 ^@ NM_000215.3(JAK3):c.2678C>T (p.Pro893Leu) http://identifiers.org/clinvar/309056 ^@ NM_003482.3(KMT2D):c.5648T>C (p.Leu1883Pro) http://identifiers.org/clinvar/309057 ^@ NM_003482.3(KMT2D):c.5594C>T (p.Thr1865Ile) http://identifiers.org/clinvar/310391 ^@ NM_173353.3(TPH2):c.*36T>G http://identifiers.org/clinvar/328504 ^@ NM_000215.3(JAK3):c.2451C>T (p.Phe817=) http://identifiers.org/clinvar/309058 ^@ NM_003482.3(KMT2D):c.5492A>T (p.Asp1831Val) http://identifiers.org/clinvar/309067 ^@ NM_003482.3(KMT2D):c.3976C>T (p.Arg1326Trp) http://identifiers.org/clinvar/309072 ^@ NM_003482.3(KMT2D):c.3298G>C (p.Asp1100His) http://identifiers.org/clinvar/316910 ^@ NM_005902.3(SMAD3):c.*1644T>G http://identifiers.org/clinvar/316911 ^@ NM_005902.3(SMAD3):c.*1695G>T http://identifiers.org/clinvar/310399 ^@ NM_173353.3(TPH2):c.*660G>A http://identifiers.org/clinvar/310401 ^@ NM_173353.3(TPH2):c.*731G>C http://identifiers.org/clinvar/316914 ^@ NM_005902.3(SMAD3):c.*1777_*1778insCCT http://identifiers.org/clinvar/328508 ^@ NM_000215.3(JAK3):c.1929G>A (p.Leu643=) http://identifiers.org/clinvar/316915 ^@ NM_005902.3(SMAD3):c.*1784G>T http://identifiers.org/clinvar/328511 ^@ NM_000215.3(JAK3):c.1679C>G (p.Ala560Gly) http://identifiers.org/clinvar/310428 ^@ NM_001131025.1(PEX5):c.1587C>T (p.Gly529=) http://identifiers.org/clinvar/328519 ^@ NM_000215.3(JAK3):c.648G>T (p.Thr216=) http://identifiers.org/clinvar/310432 ^@ NM_001131025.1(PEX5):c.1850G>C (p.Ser617Thr) http://identifiers.org/clinvar/328522 ^@ NM_000215.3(JAK3):c.119G>A (p.Arg40His) http://identifiers.org/clinvar/328532 ^@ NM_000453.2(SLC5A5):c.-24C>A http://identifiers.org/clinvar/309073 ^@ NM_003482.3(KMT2D):c.3181G>T (p.Val1061Leu) http://identifiers.org/clinvar/316916 ^@ NM_005902.3(SMAD3):c.*1790G>A http://identifiers.org/clinvar/316920 ^@ NM_005902.3(SMAD3):c.*1820G>T http://identifiers.org/clinvar/309078 ^@ NM_003482.3(KMT2D):c.2798-8C>G http://identifiers.org/clinvar/309083 ^@ NM_003482.3(KMT2D):c.2220G>T (p.Gly740=) http://identifiers.org/clinvar/310433 ^@ NM_001131025.1(PEX5):c.1873G>A (p.Ala625Thr) http://identifiers.org/clinvar/310436 ^@ NM_001131025.1(PEX5):c.*1C>T http://identifiers.org/clinvar/309090 ^@ NM_003482.3(KMT2D):c.682C>G (p.Arg228Gly) http://identifiers.org/clinvar/316924 ^@ NM_005902.3(SMAD3):c.*2013T>C http://identifiers.org/clinvar/316926 ^@ NM_005902.3(SMAD3):c.*2028T>C http://identifiers.org/clinvar/310441 ^@ NM_001131025.1(PEX5):c.*179A>G http://identifiers.org/clinvar/310443 ^@ NM_001131025.1(PEX5):c.*403C>T http://identifiers.org/clinvar/316928 ^@ NM_005902.3(SMAD3):c.*2046T>C http://identifiers.org/clinvar/310444 ^@ NM_001131025.1(PEX5):c.*446_*452dupATGTCTG http://identifiers.org/clinvar/316931 ^@ NM_005902.3(SMAD3):c.*2242A>G http://identifiers.org/clinvar/316933 ^@ NM_005902.3(SMAD3):c.*2251C>A http://identifiers.org/clinvar/309105 ^@ NM_021044.3(DHH):c.234G>A (p.Val78=) http://identifiers.org/clinvar/309109 ^@ NM_021044.3(DHH):c.-256C>G http://identifiers.org/clinvar/309128 ^@ NM_000217.2(KCNA1):c.-839C>T http://identifiers.org/clinvar/310445 ^@ NM_001131025.1(PEX5):c.*452G>C http://identifiers.org/clinvar/316938 ^@ NM_005902.3(SMAD3):c.*2403C>T http://identifiers.org/clinvar/328562 ^@ NM_000453.2(SLC5A5):c.*344C>T http://identifiers.org/clinvar/310450 ^@ NM_001131025.1(PEX5):c.*677G>T http://identifiers.org/clinvar/328566 ^@ NM_000453.2(SLC5A5):c.*746C>T http://identifiers.org/clinvar/316941 ^@ NM_005902.3(SMAD3):c.*2476A>C http://identifiers.org/clinvar/328568 ^@ NM_000453.2(SLC5A5):c.*830C>T http://identifiers.org/clinvar/328578 ^@ NM_005535.2(IL12RB1):c.1818C>T (p.Asp606=) http://identifiers.org/clinvar/310458 ^@ NM_001131025.1(PEX5):c.*1089T>C http://identifiers.org/clinvar/316947 ^@ NM_005902.3(SMAD3):c.*2793C>T http://identifiers.org/clinvar/328579 ^@ NM_005535.2(IL12RB1):c.1584G>A (p.Arg528=) http://identifiers.org/clinvar/328584 ^@ NM_005535.2(IL12RB1):c.1197C>T (p.Tyr399=) http://identifiers.org/clinvar/310461 ^@ NM_001131025.1(PEX5):c.*1134T>C http://identifiers.org/clinvar/310463 ^@ NM_001131025.1(PEX5):c.*1251G>A http://identifiers.org/clinvar/309130 ^@ NM_000217.2(KCNA1):c.-684G>T http://identifiers.org/clinvar/328585 ^@ NM_005535.2(IL12RB1):c.1179G>A (p.Pro393=) http://identifiers.org/clinvar/328587 ^@ NM_005535.2(IL12RB1):c.1132G>C (p.Gly378Arg) http://identifiers.org/clinvar/310524 ^@ NM_018979.3(WNK1):c.-291G>A http://identifiers.org/clinvar/316955 ^@ NM_005902.3(SMAD3):c.*3145T>C http://identifiers.org/clinvar/328590 ^@ NM_005535.2(IL12RB1):c.824C>T (p.Ala275Val) http://identifiers.org/clinvar/316960 ^@ NM_005902.3(SMAD3):c.*3716C>T http://identifiers.org/clinvar/316962 ^@ NM_005902.3(SMAD3):c.*4192G>A http://identifiers.org/clinvar/310529 ^@ NM_018979.3(WNK1):c.-213G>T http://identifiers.org/clinvar/316965 ^@ NM_005902.3(SMAD3):c.*4553C>T http://identifiers.org/clinvar/309131 ^@ NM_000217.2(KCNA1):c.-636G>C http://identifiers.org/clinvar/310539 ^@ NM_018979.3(WNK1):c.202G>A (p.Ala68Thr) http://identifiers.org/clinvar/316971 ^@ NM_017882.2(CLN6):c.*725C>T http://identifiers.org/clinvar/316974 ^@ NM_017882.2(CLN6):c.*646C>G http://identifiers.org/clinvar/310540 ^@ NM_018979.3(WNK1):c.266A>G (p.Asn89Ser) http://identifiers.org/clinvar/310545 ^@ NM_018979.3(WNK1):c.578C>A (p.Pro193Gln) http://identifiers.org/clinvar/316981 ^@ NM_017882.2(CLN6):c.*224T>C http://identifiers.org/clinvar/310547 ^@ NM_018979.3(WNK1):c.759+16_759+18dupCTT http://identifiers.org/clinvar/310465 ^@ NM_024685.3(BBS10):c.*1325T>C http://identifiers.org/clinvar/328592 ^@ NM_005535.2(IL12RB1):c.732G>T (p.Ser244=) http://identifiers.org/clinvar/309132 ^@ NM_000217.2(KCNA1):c.-487A>G http://identifiers.org/clinvar/328594 ^@ NM_005535.2(IL12RB1):c.701-6T>C http://identifiers.org/clinvar/328598 ^@ NM_005535.2(IL12RB1):c.467G>A (p.Arg156His) http://identifiers.org/clinvar/310470 ^@ NM_024685.3(BBS10):c.*1204T>A http://identifiers.org/clinvar/309134 ^@ NM_000217.2(KCNA1):c.-482G>C http://identifiers.org/clinvar/328600 ^@ NM_005535.2(IL12RB1):c.320T>C (p.Val107Ala) http://identifiers.org/clinvar/310472 ^@ NM_024685.3(BBS10):c.*1145A>C http://identifiers.org/clinvar/310473 ^@ NM_024685.3(BBS10):c.*1140A>G http://identifiers.org/clinvar/309135 ^@ NM_000217.2(KCNA1):c.-428C>T http://identifiers.org/clinvar/328608 ^@ NM_000095.2(COMP):c.*15A>G http://identifiers.org/clinvar/316982 ^@ NM_017882.2(CLN6):c.*179G>C http://identifiers.org/clinvar/310478 ^@ NM_024685.3(BBS10):c.*805T>C http://identifiers.org/clinvar/328610 ^@ NM_000095.2(COMP):c.1993C>A (p.Arg665=) http://identifiers.org/clinvar/310480 ^@ NM_024685.3(BBS10):c.*769G>C http://identifiers.org/clinvar/310481 ^@ NM_024685.3(BBS10):c.*645_*646delAT http://identifiers.org/clinvar/328612 ^@ NM_000095.2(COMP):c.1836C>G (p.Val612=) http://identifiers.org/clinvar/328618 ^@ NM_000095.2(COMP):c.763-6C>G http://identifiers.org/clinvar/328620 ^@ NM_000095.2(COMP):c.588G>A (p.Val196=) http://identifiers.org/clinvar/316994 ^@ NM_017882.2(CLN6):c.355_357delATC (p.Ile119del) http://identifiers.org/clinvar/309139 ^@ NM_000217.2(KCNA1):c.-157T>A http://identifiers.org/clinvar/316997 ^@ NM_017882.2(CLN6):c.213C>G (p.Leu71=) http://identifiers.org/clinvar/328624 ^@ NM_000095.2(COMP):c.377C>T (p.Thr126Ile) http://identifiers.org/clinvar/310487 ^@ NM_024685.3(BBS10):c.*87A>C http://identifiers.org/clinvar/328625 ^@ NM_000095.2(COMP):c.279C>A (p.Pro93=) http://identifiers.org/clinvar/310488 ^@ NM_024685.3(BBS10):c.1974T>C (p.Tyr658=) http://identifiers.org/clinvar/310489 ^@ NM_024685.3(BBS10):c.1973A>T (p.Tyr658Phe) http://identifiers.org/clinvar/328627 ^@ NM_000095.2(COMP):c.218-14C>G http://identifiers.org/clinvar/310492 ^@ NM_024685.3(BBS10):c.1158G>A (p.Leu386=) http://identifiers.org/clinvar/310499 ^@ NM_024685.3(BBS10):c.42G>A (p.Ala14=) http://identifiers.org/clinvar/310514 ^@ NM_002469.2(MYF6):c.*346A>C http://identifiers.org/clinvar/310737 ^@ NM_018979.3(WNK1):c.1512A>G (p.Leu504=) http://identifiers.org/clinvar/309140 ^@ NM_000217.2(KCNA1):c.-134G>T http://identifiers.org/clinvar/309143 ^@ NM_000217.2(KCNA1):c.303C>T (p.Arg101=) http://identifiers.org/clinvar/316998 ^@ NM_017882.2(CLN6):c.42C>A (p.Gly14=) http://identifiers.org/clinvar/309144 ^@ NM_000217.2(KCNA1):c.317T>C (p.Val106Ala) http://identifiers.org/clinvar/309146 ^@ NM_000217.2(KCNA1):c.1125C>T (p.Tyr375=) http://identifiers.org/clinvar/309150 ^@ NM_000217.2(KCNA1):c.*127A>C http://identifiers.org/clinvar/310551 ^@ NM_020661.3(AICDA):c.*1453_*1454insG http://identifiers.org/clinvar/309151 ^@ NM_000217.2(KCNA1):c.*189G>A http://identifiers.org/clinvar/328628 ^@ NM_000095.2(COMP):c.195G>A (p.Thr65=) http://identifiers.org/clinvar/328630 ^@ NM_000095.2(COMP):c.87C>T (p.Asp29=) http://identifiers.org/clinvar/310552 ^@ NM_020661.3(AICDA):c.*1297G>A http://identifiers.org/clinvar/316999 ^@ NM_017882.2(CLN6):c.-22C>A http://identifiers.org/clinvar/310554 ^@ NM_020661.3(AICDA):c.*1213A>G http://identifiers.org/clinvar/309160 ^@ NM_000217.2(KCNA1):c.*786G>A http://identifiers.org/clinvar/310563 ^@ NM_020661.3(AICDA):c.*1028C>T http://identifiers.org/clinvar/328631 ^@ NM_000095.2(COMP):c.69G>A (p.Gln23=) http://identifiers.org/clinvar/310565 ^@ NM_020661.3(AICDA):c.*837A>G http://identifiers.org/clinvar/317002 ^@ NM_014249.3(NR2E3):c.-139G>T http://identifiers.org/clinvar/317003 ^@ NM_014249.3(NR2E3):c.-47C>T http://identifiers.org/clinvar/309164 ^@ NM_000217.2(KCNA1):c.*923T>C http://identifiers.org/clinvar/328635 ^@ NM_003721.3(RFXANK):c.-328G>A http://identifiers.org/clinvar/310568 ^@ NM_020661.3(AICDA):c.*670A>T http://identifiers.org/clinvar/328639 ^@ NM_003721.3(RFXANK):c.-116T>C http://identifiers.org/clinvar/310569 ^@ NM_020661.3(AICDA):c.*625T>C http://identifiers.org/clinvar/317004 ^@ NM_014249.3(NR2E3):c.119-8C>T http://identifiers.org/clinvar/317005 ^@ NM_014249.3(NR2E3):c.222C>G (p.Ser74Arg) http://identifiers.org/clinvar/309172 ^@ NM_000217.2(KCNA1):c.*1522C>G http://identifiers.org/clinvar/328641 ^@ NM_003721.3(RFXANK):c.187+13C>T http://identifiers.org/clinvar/317006 ^@ NM_014249.3(NR2E3):c.245+9G>A http://identifiers.org/clinvar/309176 ^@ NM_000217.2(KCNA1):c.*1892C>T http://identifiers.org/clinvar/310577 ^@ NM_020661.3(AICDA):c.428-4_428-3insT http://identifiers.org/clinvar/310579 ^@ NM_020661.3(AICDA):c.428-6_428-5dupTT http://identifiers.org/clinvar/309177 ^@ NM_000217.2(KCNA1):c.*1927A>T http://identifiers.org/clinvar/317010 ^@ NM_014249.3(NR2E3):c.349+12dupG http://identifiers.org/clinvar/317012 ^@ NM_014249.3(NR2E3):c.402C>A (p.Ser134Arg) http://identifiers.org/clinvar/328642 ^@ NM_003721.3(RFXANK):c.213C>T (p.Thr71=) http://identifiers.org/clinvar/328643 ^@ NM_003721.3(RFXANK):c.240C>T (p.Asn80=) http://identifiers.org/clinvar/309182 ^@ NM_000217.2(KCNA1):c.*2174C>T http://identifiers.org/clinvar/310581 ^@ NM_020661.3(AICDA):c.299G>C (p.Gly100Ala) http://identifiers.org/clinvar/310745 ^@ NM_018979.3(WNK1):c.2206A>G (p.Ile736Val) http://identifiers.org/clinvar/310747 ^@ NM_018979.3(WNK1):c.2333A>G (p.Gln778Arg) http://identifiers.org/clinvar/309186 ^@ NM_000217.2(KCNA1):c.*2286A>C http://identifiers.org/clinvar/317014 ^@ NM_014249.3(NR2E3):c.444T>C (p.Ala148=) http://identifiers.org/clinvar/328644 ^@ NM_003721.3(RFXANK):c.421C>T (p.Arg141Cys) http://identifiers.org/clinvar/317018 ^@ NM_014249.3(NR2E3):c.666G>C (p.Glu222Asp) http://identifiers.org/clinvar/328656 ^@ NM_001031726.3(C19orf12):c.*3520C>T http://identifiers.org/clinvar/328663 ^@ NM_001031726.3(C19orf12):c.*3372C>T http://identifiers.org/clinvar/317025 ^@ NM_014249.3(NR2E3):c.*275A>C http://identifiers.org/clinvar/328664 ^@ NM_001031726.3(C19orf12):c.*3337G>A http://identifiers.org/clinvar/328665 ^@ NM_001031726.3(C19orf12):c.*3336C>T http://identifiers.org/clinvar/317029 ^@ NM_014249.3(NR2E3):c.*558C>A http://identifiers.org/clinvar/309187 ^@ NM_000217.2(KCNA1):c.*2308C>G http://identifiers.org/clinvar/328667 ^@ NM_001031726.3(C19orf12):c.*3294C>G http://identifiers.org/clinvar/317033 ^@ NM_000520.5(HEXA):c.*589T>G http://identifiers.org/clinvar/310752 ^@ NM_018979.3(WNK1):c.2652G>A (p.Ala884=) http://identifiers.org/clinvar/317038 ^@ NM_000520.5(HEXA):c.*200T>C http://identifiers.org/clinvar/310589 ^@ NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) http://identifiers.org/clinvar/317046 ^@ NM_000520.5(HEXA):c.346+13C>T http://identifiers.org/clinvar/310592 ^@ NM_025114.3(CEP290):c.5709+12A>G http://identifiers.org/clinvar/309190 ^@ NM_000217.2(KCNA1):c.*2554C>T http://identifiers.org/clinvar/310596 ^@ NM_025114.3(CEP290):c.5227-14delT http://identifiers.org/clinvar/309191 ^@ NM_000217.2(KCNA1):c.*2596A>T http://identifiers.org/clinvar/317052 ^@ NM_000520.5(HEXA):c.-141G>A http://identifiers.org/clinvar/310811 ^@ NM_018979.3(WNK1):c.2969A>G (p.Tyr990Cys) http://identifiers.org/clinvar/310602 ^@ NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) http://identifiers.org/clinvar/310606 ^@ NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) http://identifiers.org/clinvar/328674 ^@ NM_001031726.3(C19orf12):c.*2961T>C http://identifiers.org/clinvar/310813 ^@ NM_018979.3(WNK1):c.3019A>G (p.Met1007Val) http://identifiers.org/clinvar/309192 ^@ NM_000217.2(KCNA1):c.*2651C>T http://identifiers.org/clinvar/310609 ^@ NM_025114.3(CEP290):c.3230A>G (p.Gln1077Arg) http://identifiers.org/clinvar/310610 ^@ NM_025114.3(CEP290):c.2861A>G (p.Asp954Gly) http://identifiers.org/clinvar/317066 ^@ NM_033028.4(BBS4):c.1440G>A (p.Thr480=) http://identifiers.org/clinvar/310611 ^@ NM_025114.3(CEP290):c.2616G>A (p.Ser872=) http://identifiers.org/clinvar/317074 ^@ NM_033028.4(BBS4):c.*611C>T http://identifiers.org/clinvar/328675 ^@ NM_001031726.3(C19orf12):c.*2956G>T http://identifiers.org/clinvar/310615 ^@ NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) http://identifiers.org/clinvar/310616 ^@ NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) http://identifiers.org/clinvar/317077 ^@ NM_033028.4(BBS4):c.*883C>T http://identifiers.org/clinvar/309199 ^@ NM_000217.2(KCNA1):c.*3200A>G http://identifiers.org/clinvar/328678 ^@ NM_001031726.3(C19orf12):c.*2763A>G http://identifiers.org/clinvar/309202 ^@ NM_000217.2(KCNA1):c.*3495G>C http://identifiers.org/clinvar/317079 ^@ NM_022369.3(STRA6):c.*569T>C http://identifiers.org/clinvar/328688 ^@ NM_001031726.3(C19orf12):c.*2186C>T http://identifiers.org/clinvar/310634 ^@ NM_025114.3(CEP290):c.-33G>T http://identifiers.org/clinvar/310640 ^@ NM_025114.3(CEP290):c.-208C>T http://identifiers.org/clinvar/317080 ^@ NM_022369.3(STRA6):c.*489T>C http://identifiers.org/clinvar/310814 ^@ NM_018979.3(WNK1):c.3112-10C>T http://identifiers.org/clinvar/309208 ^@ NM_000217.2(KCNA1):c.*4177C>T http://identifiers.org/clinvar/328692 ^@ NM_001031726.3(C19orf12):c.*1686T>C http://identifiers.org/clinvar/310815 ^@ NM_018979.3(WNK1):c.3175A>G (p.Thr1059Ala) http://identifiers.org/clinvar/317087 ^@ NM_022369.3(STRA6):c.*189G>T http://identifiers.org/clinvar/310816 ^@ NM_018979.3(WNK1):c.3188C>T (p.Thr1063Ile) http://identifiers.org/clinvar/310818 ^@ NM_018979.3(WNK1):c.3490-5T>A http://identifiers.org/clinvar/310821 ^@ NM_018979.3(WNK1):c.3662A>G (p.Gln1221Arg) http://identifiers.org/clinvar/309210 ^@ NM_000217.2(KCNA1):c.*4236C>T http://identifiers.org/clinvar/309214 ^@ NM_000217.2(KCNA1):c.*4635G>C http://identifiers.org/clinvar/328698 ^@ NM_001031726.3(C19orf12):c.*1488T>G http://identifiers.org/clinvar/310823 ^@ NM_018979.3(WNK1):c.3699G>A (p.Ala1233=) http://identifiers.org/clinvar/310833 ^@ NM_018979.3(WNK1):c.5258A>G (p.Lys1753Arg) http://identifiers.org/clinvar/310836 ^@ NM_018979.3(WNK1):c.5468C>T (p.Pro1823Leu) http://identifiers.org/clinvar/306609 ^@ NM_018979.3(WNK1):c.5574A>T (p.Gly1858=) http://identifiers.org/clinvar/306611 ^@ NM_018979.3(WNK1):c.5833C>T (p.Arg1945Cys) http://identifiers.org/clinvar/306669 ^@ NM_018979.3(WNK1):c.*277A>T http://identifiers.org/clinvar/317094 ^@ NM_022369.3(STRA6):c.1970C>T (p.Thr657Met) http://identifiers.org/clinvar/317098 ^@ NM_022369.3(STRA6):c.1836C>T (p.Asp612=) http://identifiers.org/clinvar/328700 ^@ NM_001031726.3(C19orf12):c.*1362G>A http://identifiers.org/clinvar/328702 ^@ NM_001031726.3(C19orf12):c.*1178C>A http://identifiers.org/clinvar/328703 ^@ NM_001031726.3(C19orf12):c.*1170C>A http://identifiers.org/clinvar/309219 ^@ NM_000217.2(KCNA1):c.*4957C>A http://identifiers.org/clinvar/309224 ^@ NM_000217.2(KCNA1):c.*5145T>C http://identifiers.org/clinvar/317102 ^@ NM_022369.3(STRA6):c.1418+10delA http://identifiers.org/clinvar/317105 ^@ NM_022369.3(STRA6):c.1260G>C (p.Trp420Cys) http://identifiers.org/clinvar/328707 ^@ NM_001031726.3(C19orf12):c.*1144C>T http://identifiers.org/clinvar/306674 ^@ NM_018979.3(WNK1):c.*487_*490delATTT http://identifiers.org/clinvar/317108 ^@ NM_022369.3(STRA6):c.865+7G>A http://identifiers.org/clinvar/309229 ^@ NM_000217.2(KCNA1):c.*5279C>T http://identifiers.org/clinvar/328719 ^@ NM_001031726.3(C19orf12):c.*500G>A http://identifiers.org/clinvar/317109 ^@ NM_022369.3(STRA6):c.853A>T (p.Thr285Ser) http://identifiers.org/clinvar/328720 ^@ NM_001031726.3(C19orf12):c.*471G>A http://identifiers.org/clinvar/309110 ^@ NM_006009.3(TUBA1A):c.*211A>G http://identifiers.org/clinvar/328728 ^@ NM_001031726.3(C19orf12):c.*47T>C http://identifiers.org/clinvar/317112 ^@ NM_022369.3(STRA6):c.597+7G>A http://identifiers.org/clinvar/328730 ^@ NM_001031726.3(C19orf12):c.113A>T (p.His38Leu) http://identifiers.org/clinvar/317113 ^@ NM_022369.3(STRA6):c.406+5C>T http://identifiers.org/clinvar/328736 ^@ NM_001031726.3(C19orf12):c.-65C>T http://identifiers.org/clinvar/328738 ^@ NM_001031726.3(C19orf12):c.-76T>C http://identifiers.org/clinvar/317114 ^@ NM_022369.3(STRA6):c.388G>A (p.Ala130Thr) http://identifiers.org/clinvar/328740 ^@ NM_014270.4(SLC7A9):c.*79T>C http://identifiers.org/clinvar/317116 ^@ NM_022369.3(STRA6):c.366C>T (p.Asp122=) http://identifiers.org/clinvar/317117 ^@ NM_022369.3(STRA6):c.331C>T (p.Leu111=) http://identifiers.org/clinvar/306681 ^@ NM_018979.3(WNK1):c.*764_*765delCT http://identifiers.org/clinvar/317130 ^@ NM_000781.2(CYP11A1):c.366C>T (p.Leu122=) http://identifiers.org/clinvar/317131 ^@ NM_000781.2(CYP11A1):c.269+4A>G http://identifiers.org/clinvar/306686 ^@ NM_018979.3(WNK1):c.*1060C>G http://identifiers.org/clinvar/306689 ^@ NM_018979.3(WNK1):c.*1169G>A http://identifiers.org/clinvar/309112 ^@ NM_006009.3(TUBA1A):c.390G>C (p.Thr130=) http://identifiers.org/clinvar/306691 ^@ NM_018979.3(WNK1):c.*1307G>A http://identifiers.org/clinvar/328744 ^@ NM_014270.4(SLC7A9):c.1338C>T (p.Ser446=) http://identifiers.org/clinvar/317135 ^@ NM_000781.2(CYP11A1):c.-35A>G http://identifiers.org/clinvar/328747 ^@ NM_014270.4(SLC7A9):c.1143C>T (p.Ala381=) http://identifiers.org/clinvar/317137 ^@ NM_002435.2(MPI):c.132G>A (p.Lys44=) http://identifiers.org/clinvar/317138 ^@ NM_002435.2(MPI):c.378G>A (p.Pro126=) http://identifiers.org/clinvar/309116 ^@ NM_006009.3(TUBA1A):c.-64G>A http://identifiers.org/clinvar/317144 ^@ NM_002435.2(MPI):c.*44T>G http://identifiers.org/clinvar/309117 ^@ NM_006009.3(TUBA1A):c.-69G>T http://identifiers.org/clinvar/317145 ^@ NM_002435.2(MPI):c.*56delC http://identifiers.org/clinvar/317147 ^@ NM_002435.2(MPI):c.*176G>A http://identifiers.org/clinvar/317148 ^@ NM_002435.2(MPI):c.*358G>A http://identifiers.org/clinvar/309118 ^@ NM_006009.3(TUBA1A):c.-78C>T http://identifiers.org/clinvar/317149 ^@ NM_002435.2(MPI):c.*393G>A http://identifiers.org/clinvar/306697 ^@ NM_018979.3(WNK1):c.*1726_*1729delATTA http://identifiers.org/clinvar/317151 ^@ NM_000126.3(ETFA):c.*268A>G http://identifiers.org/clinvar/328750 ^@ NM_014270.4(SLC7A9):c.922T>C (p.Phe308Leu) http://identifiers.org/clinvar/317152 ^@ NM_000126.3(ETFA):c.*216A>T http://identifiers.org/clinvar/309238 ^@ NM_000486.5(AQP2):c.*118C>T http://identifiers.org/clinvar/328755 ^@ NM_014270.4(SLC7A9):c.667C>A (p.Leu223Met) http://identifiers.org/clinvar/317153 ^@ NM_000126.3(ETFA):c.*99G>A http://identifiers.org/clinvar/317156 ^@ NM_000126.3(ETFA):c.562+11A>T http://identifiers.org/clinvar/309249 ^@ NM_000486.5(AQP2):c.*1081C>A http://identifiers.org/clinvar/328759 ^@ NM_014270.4(SLC7A9):c.507C>T (p.Ser169=) http://identifiers.org/clinvar/317157 ^@ NM_000126.3(ETFA):c.367G>A (p.Val123Ile) http://identifiers.org/clinvar/317159 ^@ NM_000126.3(ETFA):c.-56C>A http://identifiers.org/clinvar/309252 ^@ NM_000486.5(AQP2):c.*1228T>G http://identifiers.org/clinvar/309253 ^@ NM_000486.5(AQP2):c.*1243C>A http://identifiers.org/clinvar/328763 ^@ NM_014270.4(SLC7A9):c.399C>T (p.Ser133=) http://identifiers.org/clinvar/306702 ^@ NM_018979.3(WNK1):c.*1919_*1921delCAC http://identifiers.org/clinvar/309257 ^@ NM_000486.5(AQP2):c.*1684T>C http://identifiers.org/clinvar/328765 ^@ NM_014270.4(SLC7A9):c.302T>A (p.Met101Lys) http://identifiers.org/clinvar/306709 ^@ NM_018979.3(WNK1):c.*1937C>G http://identifiers.org/clinvar/309258 ^@ NM_000486.5(AQP2):c.*1730delT http://identifiers.org/clinvar/309259 ^@ NM_000486.5(AQP2):c.*1757A>G http://identifiers.org/clinvar/328774 ^@ NM_014270.4(SLC7A9):c.-172T>A http://identifiers.org/clinvar/317164 ^@ NM_003978.4(PSTPIP1):c.-413_-402dupCCTGCCTGCCTG http://identifiers.org/clinvar/328775 ^@ NM_000285.3(PEPD):c.*336_*339dupTTCT http://identifiers.org/clinvar/317167 ^@ NM_003978.4(PSTPIP1):c.-171A>T http://identifiers.org/clinvar/317171 ^@ NM_003978.4(PSTPIP1):c.203C>T (p.Thr68Met) http://identifiers.org/clinvar/317175 ^@ NM_003978.4(PSTPIP1):c.543G>A (p.Lys181=) http://identifiers.org/clinvar/328779 ^@ NM_000285.3(PEPD):c.*155G>A http://identifiers.org/clinvar/317177 ^@ NM_003978.4(PSTPIP1):c.586G>A (p.Ala196Thr) http://identifiers.org/clinvar/317182 ^@ NM_003978.4(PSTPIP1):c.940C>T (p.Leu314=) http://identifiers.org/clinvar/328787 ^@ NM_000285.3(PEPD):c.1329T>C (p.Phe443=) http://identifiers.org/clinvar/317184 ^@ NM_003978.4(PSTPIP1):c.1079C>T (p.Pro360Leu) http://identifiers.org/clinvar/317185 ^@ NM_003978.4(PSTPIP1):c.1112C>T (p.Thr371Ile) http://identifiers.org/clinvar/309261 ^@ NM_000486.5(AQP2):c.*2101C>T http://identifiers.org/clinvar/328796 ^@ NM_000285.3(PEPD):c.1163G>A (p.Arg388His) http://identifiers.org/clinvar/306711 ^@ NM_018979.3(WNK1):c.*1986G>A http://identifiers.org/clinvar/328800 ^@ NM_000285.3(PEPD):c.1098C>T (p.His366=) http://identifiers.org/clinvar/306715 ^@ NM_018979.3(WNK1):c.*2192_*2196dupCTTTA http://identifiers.org/clinvar/317186 ^@ NM_003978.4(PSTPIP1):c.1143C>T (p.Ser381=) http://identifiers.org/clinvar/306723 ^@ NM_018979.3(WNK1):c.*2308T>C http://identifiers.org/clinvar/310648 ^@ NM_001920.4(DCN):c.*148T>G http://identifiers.org/clinvar/310659 ^@ NM_001920.4(DCN):c.424A>G (p.Lys142Glu) http://identifiers.org/clinvar/317187 ^@ NM_003978.4(PSTPIP1):c.1144G>A (p.Ala382Thr) http://identifiers.org/clinvar/309267 ^@ NM_000486.5(AQP2):c.*2795T>G http://identifiers.org/clinvar/317188 ^@ NM_003978.4(PSTPIP1):c.1145C>T (p.Ala382Val) http://identifiers.org/clinvar/310664 ^@ NM_001920.4(DCN):c.-180A>T http://identifiers.org/clinvar/309268 ^@ NM_000486.5(AQP2):c.*2804C>A http://identifiers.org/clinvar/317189 ^@ NM_003978.4(PSTPIP1):c.1248T>C (p.Leu416=) http://identifiers.org/clinvar/328804 ^@ NM_000285.3(PEPD):c.946G>A (p.Val316Ile) http://identifiers.org/clinvar/328805 ^@ NM_000285.3(PEPD):c.834C>T (p.Gly278=) http://identifiers.org/clinvar/317195 ^@ NM_003978.4(PSTPIP1):c.*123T>C http://identifiers.org/clinvar/328806 ^@ NM_000285.3(PEPD):c.819-4G>A http://identifiers.org/clinvar/328810 ^@ NM_000285.3(PEPD):c.692_694delACT (p.Tyr231del) http://identifiers.org/clinvar/310671 ^@ NM_002108.3(HAL):c.*1548G>A http://identifiers.org/clinvar/317197 ^@ NM_000137.2(FAH):c.-67C>A http://identifiers.org/clinvar/328815 ^@ NM_000285.3(PEPD):c.492C>T (p.Asp164=) http://identifiers.org/clinvar/328821 ^@ NM_000285.3(PEPD):c.279G>A (p.Ser93=) http://identifiers.org/clinvar/328827 ^@ NM_000285.3(PEPD):c.-61A>G http://identifiers.org/clinvar/309334 ^@ NM_002234.3(KCNA5):c.180G>A (p.Ala60=) http://identifiers.org/clinvar/317198 ^@ NM_000137.2(FAH):c.-63C>A http://identifiers.org/clinvar/328829 ^@ NM_001037.4(SCN1B):c.-132C>G http://identifiers.org/clinvar/309338 ^@ NM_002234.3(KCNA5):c.1210C>T (p.Leu404=) http://identifiers.org/clinvar/317205 ^@ NM_000137.2(FAH):c.109G>A (p.Gly37Ser) http://identifiers.org/clinvar/328830 ^@ NM_001037.4(SCN1B):c.-95C>T http://identifiers.org/clinvar/317206 ^@ NM_000137.2(FAH):c.139A>G (p.Lys47Glu) http://identifiers.org/clinvar/309340 ^@ NM_002234.3(KCNA5):c.*50G>A http://identifiers.org/clinvar/317207 ^@ NM_000137.2(FAH):c.147C>G (p.Leu49=) http://identifiers.org/clinvar/309342 ^@ NM_002234.3(KCNA5):c.*508A>T http://identifiers.org/clinvar/317214 ^@ NM_000137.2(FAH):c.841C>A (p.Pro281Thr) http://identifiers.org/clinvar/309278 ^@ NM_000617.2(SLC11A2):c.*2083_*2084delAG http://identifiers.org/clinvar/309287 ^@ NM_000617.2(SLC11A2):c.*1273G>A http://identifiers.org/clinvar/310674 ^@ NM_002108.3(HAL):c.*1489A>C http://identifiers.org/clinvar/310678 ^@ NM_002108.3(HAL):c.*1283T>C http://identifiers.org/clinvar/310683 ^@ NM_002108.3(HAL):c.*1119dupA http://identifiers.org/clinvar/310684 ^@ NM_002108.3(HAL):c.*976T>G http://identifiers.org/clinvar/310688 ^@ NM_002108.3(HAL):c.*728T>A http://identifiers.org/clinvar/309297 ^@ NM_000617.2(SLC11A2):c.*420G>A http://identifiers.org/clinvar/317220 ^@ NM_000137.2(FAH):c.*138G>A http://identifiers.org/clinvar/317223 ^@ NM_000137.2(FAH):c.*317G>A http://identifiers.org/clinvar/317224 ^@ NM_000326.4(RLBP1):c.*380C>T http://identifiers.org/clinvar/309298 ^@ NM_000617.2(SLC11A2):c.*415G>A http://identifiers.org/clinvar/317233 ^@ NM_000326.4(RLBP1):c.807C>T (p.His269=) http://identifiers.org/clinvar/309300 ^@ NM_000617.2(SLC11A2):c.*358A>G http://identifiers.org/clinvar/317241 ^@ NM_000326.4(RLBP1):c.228G>A (p.Ser76=) http://identifiers.org/clinvar/328836 ^@ NM_021175.3(HAMP):c.-1G>A http://identifiers.org/clinvar/317246 ^@ NM_000326.4(RLBP1):c.-72C>T http://identifiers.org/clinvar/328842 ^@ NM_004646.3(NPHS1):c.*1021G>A http://identifiers.org/clinvar/328850 ^@ NM_004646.3(NPHS1):c.*488T>C http://identifiers.org/clinvar/309302 ^@ NM_000617.2(SLC11A2):c.*32A>G http://identifiers.org/clinvar/309305 ^@ NM_000617.2(SLC11A2):c.1596A>C (p.Ala532=) http://identifiers.org/clinvar/328851 ^@ NM_004646.3(NPHS1):c.*250G>A http://identifiers.org/clinvar/310692 ^@ NM_002108.3(HAL):c.*509A>T http://identifiers.org/clinvar/317249 ^@ NM_000326.4(RLBP1):c.-199T>C http://identifiers.org/clinvar/328857 ^@ NM_004646.3(NPHS1):c.3206T>C (p.Leu1069Pro) http://identifiers.org/clinvar/317251 ^@ NM_000326.4(RLBP1):c.-234C>T http://identifiers.org/clinvar/317253 ^@ NM_000326.4(RLBP1):c.-354C>T http://identifiers.org/clinvar/309308 ^@ NM_000617.2(SLC11A2):c.1425C>T (p.Gly475=) http://identifiers.org/clinvar/309309 ^@ NM_000617.2(SLC11A2):c.1421+8T>A http://identifiers.org/clinvar/310693 ^@ NM_002108.3(HAL):c.*428C>G http://identifiers.org/clinvar/328863 ^@ NM_004646.3(NPHS1):c.2469G>A (p.Ala823=) http://identifiers.org/clinvar/328865 ^@ NM_004646.3(NPHS1):c.1926A>G (p.Val642=) http://identifiers.org/clinvar/309315 ^@ NM_000617.2(SLC11A2):c.921C>T (p.Ser307=) http://identifiers.org/clinvar/328868 ^@ NM_004646.3(NPHS1):c.1758-11C>G http://identifiers.org/clinvar/310694 ^@ NM_002108.3(HAL):c.*406_*408dupTTT http://identifiers.org/clinvar/309317 ^@ NM_000617.2(SLC11A2):c.625G>A (p.Ala209Thr) http://identifiers.org/clinvar/328876 ^@ NM_004646.3(NPHS1):c.726C>T (p.Pro242=) http://identifiers.org/clinvar/310695 ^@ NM_002108.3(HAL):c.*405_*408dupTTTT http://identifiers.org/clinvar/309327 ^@ NM_000617.2(SLC11A2):c.-78G>A http://identifiers.org/clinvar/310697 ^@ NM_002108.3(HAL):c.*392C>T http://identifiers.org/clinvar/309328 ^@ NM_000617.2(SLC11A2):c.-110G>T http://identifiers.org/clinvar/328879 ^@ NM_004646.3(NPHS1):c.428A>T (p.Glu143Val) http://identifiers.org/clinvar/317255 ^@ NM_001113378.1(FANCI):c.-72C>G http://identifiers.org/clinvar/310698 ^@ NM_002108.3(HAL):c.*227A>C http://identifiers.org/clinvar/317260 ^@ NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) http://identifiers.org/clinvar/310701 ^@ NM_002108.3(HAL):c.*110C>A http://identifiers.org/clinvar/310702 ^@ NM_002108.3(HAL):c.1801G>A (p.Glu601Lys) http://identifiers.org/clinvar/328881 ^@ NM_004646.3(NPHS1):c.397+15C>T http://identifiers.org/clinvar/310707 ^@ NM_002108.3(HAL):c.1416G>A (p.Glu472=) http://identifiers.org/clinvar/328883 ^@ NM_004646.3(NPHS1):c.115G>A (p.Glu39Lys) http://identifiers.org/clinvar/310716 ^@ NM_002108.3(HAL):c.777A>G (p.Pro259=) http://identifiers.org/clinvar/310718 ^@ NM_002108.3(HAL):c.493G>A (p.Gly165Ser) http://identifiers.org/clinvar/328884 ^@ NM_004646.3(NPHS1):c.-31C>T http://identifiers.org/clinvar/317261 ^@ NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) http://identifiers.org/clinvar/328891 ^@ NM_003332.3(TYROBP):c.*83C>T http://identifiers.org/clinvar/309350 ^@ NM_014191.3(SCN8A):c.564C>G (p.Thr188=) http://identifiers.org/clinvar/309351 ^@ NM_014191.3(SCN8A):c.855C>T (p.Pro285=) http://identifiers.org/clinvar/310719 ^@ NM_002108.3(HAL):c.485-5T>C http://identifiers.org/clinvar/309355 ^@ NM_014191.3(SCN8A):c.2508C>T (p.Asp836=) http://identifiers.org/clinvar/310720 ^@ NM_002108.3(HAL):c.429G>A (p.Glu143=) http://identifiers.org/clinvar/328893 ^@ NM_003332.3(TYROBP):c.*5G>A http://identifiers.org/clinvar/328894 ^@ NM_003332.3(TYROBP):c.123C>G (p.Gly41=) http://identifiers.org/clinvar/317267 ^@ NM_001113378.1(FANCI):c.868G>A (p.Val290Met) http://identifiers.org/clinvar/317272 ^@ NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) http://identifiers.org/clinvar/310722 ^@ NM_002108.3(HAL):c.398G>A (p.Arg133His) http://identifiers.org/clinvar/310731 ^@ NM_002108.3(HAL):c.-120C>T http://identifiers.org/clinvar/309356 ^@ NM_014191.3(SCN8A):c.2685A>G (p.Gln895=) http://identifiers.org/clinvar/309357 ^@ NM_014191.3(SCN8A):c.2901+13T>A http://identifiers.org/clinvar/328895 ^@ NM_003332.3(TYROBP):c.94+10G>C http://identifiers.org/clinvar/317275 ^@ NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) http://identifiers.org/clinvar/309362 ^@ NM_014191.3(SCN8A):c.3491-12C>T http://identifiers.org/clinvar/309365 ^@ NM_014191.3(SCN8A):c.4141G>C (p.Glu1381Gln) http://identifiers.org/clinvar/310756 ^@ NM_003276.2(TMPO):c.-126A>T http://identifiers.org/clinvar/309372 ^@ NM_014191.3(SCN8A):c.*434T>C http://identifiers.org/clinvar/310757 ^@ NM_003276.2(TMPO):c.-68G>A http://identifiers.org/clinvar/309375 ^@ NM_014191.3(SCN8A):c.*559T>C http://identifiers.org/clinvar/328896 ^@ NM_003332.3(TYROBP):c.68G>A (p.Arg23His) http://identifiers.org/clinvar/317280 ^@ NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) http://identifiers.org/clinvar/317284 ^@ NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) http://identifiers.org/clinvar/309377 ^@ NM_014191.3(SCN8A):c.*708A>T http://identifiers.org/clinvar/328898 ^@ NM_003332.3(TYROBP):c.-50G>A http://identifiers.org/clinvar/309387 ^@ NM_014191.3(SCN8A):c.*1317C>T http://identifiers.org/clinvar/328899 ^@ NM_001042631.2(SDHAF1):c.-64C>G http://identifiers.org/clinvar/328902 ^@ NM_001042631.2(SDHAF1):c.*622A>G http://identifiers.org/clinvar/310761 ^@ NM_003276.2(TMPO):c.383G>A (p.Gly128Glu) http://identifiers.org/clinvar/317287 ^@ NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) http://identifiers.org/clinvar/310763 ^@ NM_003276.2(TMPO):c.598A>C (p.Thr200Pro) http://identifiers.org/clinvar/317289 ^@ NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) http://identifiers.org/clinvar/310764 ^@ NM_003276.2(TMPO):c.794G>A (p.Gly265Glu) http://identifiers.org/clinvar/328905 ^@ NM_001083961.1(WDR62):c.253G>A (p.Val85Met) http://identifiers.org/clinvar/328911 ^@ NM_001083961.1(WDR62):c.1479C>T (p.Ala493=) http://identifiers.org/clinvar/309389 ^@ NM_014191.3(SCN8A):c.*1468T>C http://identifiers.org/clinvar/310766 ^@ NM_003276.2(TMPO):c.971A>G (p.Asp324Gly) http://identifiers.org/clinvar/317291 ^@ NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) http://identifiers.org/clinvar/317292 ^@ NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) http://identifiers.org/clinvar/310772 ^@ NM_003276.2(TMPO):c.*18delA http://identifiers.org/clinvar/310796 ^@ NM_005888.3(SLC25A3):c.-4-7C>T http://identifiers.org/clinvar/328918 ^@ NM_001083961.1(WDR62):c.2605G>A (p.Gly869Ser) http://identifiers.org/clinvar/317300 ^@ NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) http://identifiers.org/clinvar/317312 ^@ NM_001113378.1(FANCI):c.*384A>G http://identifiers.org/clinvar/309392 ^@ NM_014191.3(SCN8A):c.*1803C>G http://identifiers.org/clinvar/309406 ^@ NM_014191.3(SCN8A):c.*2908C>T http://identifiers.org/clinvar/328926 ^@ NM_001083961.1(WDR62):c.3536C>T (p.Ala1179Val) http://identifiers.org/clinvar/309408 ^@ NM_014191.3(SCN8A):c.*3047T>C http://identifiers.org/clinvar/328930 ^@ NM_001083961.1(WDR62):c.4144C>T (p.Pro1382Ser) http://identifiers.org/clinvar/328935 ^@ NM_001083961.1(WDR62):c.4339G>A (p.Gly1447Arg) http://identifiers.org/clinvar/317313 ^@ NM_001113378.1(FANCI):c.*440G>T http://identifiers.org/clinvar/310799 ^@ NM_005888.3(SLC25A3):c.718C>T (p.Arg240Cys) http://identifiers.org/clinvar/309415 ^@ NM_014191.3(SCN8A):c.*3835T>C http://identifiers.org/clinvar/309418 ^@ NM_014191.3(SCN8A):c.*4150C>A http://identifiers.org/clinvar/317315 ^@ NG_008218.2:g.22853T>C http://identifiers.org/clinvar/309420 ^@ NM_014191.3(SCN8A):c.*4196G>A http://identifiers.org/clinvar/309430 ^@ NM_014191.3(SCN8A):c.*4801_*4802delTG http://identifiers.org/clinvar/317317 ^@ NM_002693.2(POLG):c.3644-178_3644-176dupAGA http://identifiers.org/clinvar/309428 ^@ NM_014191.3(SCN8A):c.*4801_*4802dupTG http://identifiers.org/clinvar/317323 ^@ NM_002693.2(POLG):c.3334A>T (p.Met1112Leu) http://identifiers.org/clinvar/309434 ^@ NM_014191.3(SCN8A):c.*5271G>C http://identifiers.org/clinvar/328937 ^@ NM_001083961.1(WDR62):c.4546G>A (p.Val1516Met) http://identifiers.org/clinvar/310800 ^@ NM_005888.3(SLC25A3):c.817+4C>T http://identifiers.org/clinvar/317328 ^@ NM_002693.2(POLG):c.2266-11G>C http://identifiers.org/clinvar/310801 ^@ NM_005888.3(SLC25A3):c.817+5G>T http://identifiers.org/clinvar/310805 ^@ NM_005888.3(SLC25A3):c.*102C>A http://identifiers.org/clinvar/310808 ^@ NM_005888.3(SLC25A3):c.*255T>G http://identifiers.org/clinvar/309435 ^@ NM_000020.2(ACVRL1):c.-202C>G http://identifiers.org/clinvar/309437 ^@ NM_000020.2(ACVRL1):c.-129G>A http://identifiers.org/clinvar/317335 ^@ NM_002693.2(POLG):c.452T>C (p.Leu151Pro) http://identifiers.org/clinvar/317336 ^@ NM_002693.2(POLG):c.-67A>G http://identifiers.org/clinvar/309441 ^@ NM_000020.2(ACVRL1):c.429C>T (p.Val143=) http://identifiers.org/clinvar/328938 ^@ NM_001083961.1(WDR62):c.*45G>A http://identifiers.org/clinvar/328939 ^@ NM_001083961.1(WDR62):c.*45G>C http://identifiers.org/clinvar/328941 ^@ NM_032753.3(RAX2):c.*1483C>T http://identifiers.org/clinvar/310839 ^@ NM_000282.3(PCCA):c.-60C>T http://identifiers.org/clinvar/310841 ^@ NM_000282.3(PCCA):c.-5C>T http://identifiers.org/clinvar/309442 ^@ NM_000020.2(ACVRL1):c.518T>C (p.Met173Thr) http://identifiers.org/clinvar/310844 ^@ NM_000282.3(PCCA):c.522G>A (p.Met174Ile) http://identifiers.org/clinvar/328944 ^@ NM_032753.3(RAX2):c.*1205G>A http://identifiers.org/clinvar/310846 ^@ NM_000282.3(PCCA):c.923dupT (p.Leu308Phefs) http://identifiers.org/clinvar/317338 ^@ NM_002693.2(POLG):c.-160+6C>T http://identifiers.org/clinvar/328948 ^@ NM_032753.3(RAX2):c.*1054C>T http://identifiers.org/clinvar/317347 ^@ NM_198525.2(KIF7):c.*37G>A http://identifiers.org/clinvar/328950 ^@ NM_032753.3(RAX2):c.*949C>T http://identifiers.org/clinvar/328953 ^@ NM_032753.3(RAX2):c.*785G>A http://identifiers.org/clinvar/310849 ^@ NM_000282.3(PCCA):c.2039C>T (p.Ala680Val) http://identifiers.org/clinvar/317366 ^@ NM_198525.2(KIF7):c.1358C>T (p.Ala453Val) http://identifiers.org/clinvar/309444 ^@ NM_000020.2(ACVRL1):c.*45delG http://identifiers.org/clinvar/328959 ^@ NM_032753.3(RAX2):c.*624G>A http://identifiers.org/clinvar/328968 ^@ NM_032753.3(RAX2):c.217-10C>T http://identifiers.org/clinvar/328974 ^@ NM_032753.3(RAX2):c.-11C>T http://identifiers.org/clinvar/310861 ^@ NM_004115.3(FGF14):c.*1741T>C http://identifiers.org/clinvar/317371 ^@ NM_198525.2(KIF7):c.1157A>T (p.His386Leu) http://identifiers.org/clinvar/310863 ^@ NM_004115.3(FGF14):c.*1618T>A http://identifiers.org/clinvar/317374 ^@ NM_198525.2(KIF7):c.924-14C>T http://identifiers.org/clinvar/328990 ^@ NM_000540.2(RYR1):c.5G>C (p.Gly2Ala) http://identifiers.org/clinvar/317378 ^@ NM_198525.2(KIF7):c.619G>A (p.Ala207Thr) http://identifiers.org/clinvar/310865 ^@ NM_004115.3(FGF14):c.*1612G>T http://identifiers.org/clinvar/328991 ^@ NM_000540.2(RYR1):c.537+12C>A http://identifiers.org/clinvar/317380 ^@ NM_198525.2(KIF7):c.405C>A (p.Asp135Glu) http://identifiers.org/clinvar/310869 ^@ NM_004115.3(FGF14):c.*1220_*1223dupATTA http://identifiers.org/clinvar/309446 ^@ NM_000020.2(ACVRL1):c.*120G>A http://identifiers.org/clinvar/309449 ^@ NM_000020.2(ACVRL1):c.*205G>A http://identifiers.org/clinvar/310875 ^@ NM_004115.3(FGF14):c.*993C>T http://identifiers.org/clinvar/309451 ^@ NM_000020.2(ACVRL1):c.*251A>G http://identifiers.org/clinvar/309452 ^@ NM_000020.2(ACVRL1):c.*423C>T http://identifiers.org/clinvar/310879 ^@ NM_004115.3(FGF14):c.*972delA http://identifiers.org/clinvar/328993 ^@ NM_000540.2(RYR1):c.577T>A (p.Ser193Thr) http://identifiers.org/clinvar/310877 ^@ NM_004115.3(FGF14):c.*972dupA http://identifiers.org/clinvar/329010 ^@ NM_000540.2(RYR1):c.3420C>G (p.Arg1140=) http://identifiers.org/clinvar/310883 ^@ NM_004115.3(FGF14):c.*777C>A http://identifiers.org/clinvar/317397 ^@ NM_001039958.1(MESP2):c.*107T>C http://identifiers.org/clinvar/310888 ^@ NM_004115.3(FGF14):c.*414T>C http://identifiers.org/clinvar/310893 ^@ NM_004115.3(FGF14):c.693G>A (p.Ala231=) http://identifiers.org/clinvar/310895 ^@ NM_004115.3(FGF14):c.651G>A (p.Thr217=) http://identifiers.org/clinvar/309454 ^@ NM_000020.2(ACVRL1):c.*560T>C http://identifiers.org/clinvar/309459 ^@ NM_000020.2(ACVRL1):c.*913C>T http://identifiers.org/clinvar/317409 ^@ NM_000057.3(BLM):c.3418C>T (p.His1140Tyr) http://identifiers.org/clinvar/317412 ^@ NM_000057.3(BLM):c.3930T>G (p.Ser1310Arg) http://identifiers.org/clinvar/310902 ^@ NM_004115.3(FGF14):c.124G>T (p.Gly42Cys) http://identifiers.org/clinvar/317421 ^@ NM_018668.4(VPS33B):c.1274G>A (p.Ser425Asn) http://identifiers.org/clinvar/329011 ^@ NM_000540.2(RYR1):c.3555C>T (p.Asp1185=) http://identifiers.org/clinvar/317428 ^@ NM_018668.4(VPS33B):c.404-14C>G http://identifiers.org/clinvar/310903 ^@ NM_000123.3(ERCC5):c.-419A>G http://identifiers.org/clinvar/309467 ^@ NM_000020.2(ACVRL1):c.*1246T>C http://identifiers.org/clinvar/310912 ^@ NM_000123.3(ERCC5):c.429C>G (p.Leu143=) http://identifiers.org/clinvar/329016 ^@ NM_000540.2(RYR1):c.4074G>A (p.Gly1358=) http://identifiers.org/clinvar/310914 ^@ NM_000123.3(ERCC5):c.542A>G (p.His181Arg) http://identifiers.org/clinvar/317434 ^@ NM_018668.4(VPS33B):c.-271A>C http://identifiers.org/clinvar/309473 ^@ NM_000020.2(ACVRL1):c.*1689G>A http://identifiers.org/clinvar/329021 ^@ NM_000540.2(RYR1):c.4257C>T (p.Asn1419=) http://identifiers.org/clinvar/310916 ^@ NM_000123.3(ERCC5):c.670G>C (p.Glu224Gln) http://identifiers.org/clinvar/329024 ^@ NM_000540.2(RYR1):c.4292C>T (p.Thr1431Met) http://identifiers.org/clinvar/317437 ^@ NM_018668.4(VPS33B):c.-335C>T http://identifiers.org/clinvar/329026 ^@ NM_000540.2(RYR1):c.4339G>A (p.Val1447Met) http://identifiers.org/clinvar/317440 ^@ NM_000875.4(IGF1R):c.641-14C>T http://identifiers.org/clinvar/309475 ^@ NM_000020.2(ACVRL1):c.*1777G>A http://identifiers.org/clinvar/310918 ^@ NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) http://identifiers.org/clinvar/310926 ^@ NM_000123.3(ERCC5):c.1926A>G (p.Glu642=) http://identifiers.org/clinvar/309477 ^@ NM_000020.2(ACVRL1):c.*1926T>C http://identifiers.org/clinvar/310931 ^@ NM_000123.3(ERCC5):c.2295C>T (p.Thr765=) http://identifiers.org/clinvar/310933 ^@ NM_000123.3(ERCC5):c.2534-10T>G http://identifiers.org/clinvar/329027 ^@ NM_000540.2(RYR1):c.4342T>C (p.Trp1448Arg) http://identifiers.org/clinvar/329028 ^@ NM_000540.2(RYR1):c.4480G>C (p.Val1494Leu) http://identifiers.org/clinvar/317458 ^@ NM_000875.4(IGF1R):c.3594C>T (p.Phe1198=) http://identifiers.org/clinvar/317463 ^@ NM_000875.4(IGF1R):c.4069C>T (p.Arg1357Trp) http://identifiers.org/clinvar/329029 ^@ NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) http://identifiers.org/clinvar/317465 ^@ NM_000875.4(IGF1R):c.*43G>A http://identifiers.org/clinvar/317471 ^@ NM_000875.4(IGF1R):c.*69_*70delAG http://identifiers.org/clinvar/309479 ^@ NM_000020.2(ACVRL1):c.*2277A>T http://identifiers.org/clinvar/309480 ^@ NM_000020.2(ACVRL1):c.*2281G>T http://identifiers.org/clinvar/309486 ^@ NM_002282.3(KRT83):c.*324delG http://identifiers.org/clinvar/310938 ^@ NM_000123.3(ERCC5):c.2965-14T>A http://identifiers.org/clinvar/310940 ^@ NM_000123.3(ERCC5):c.3412G>A (p.Val1138Met) http://identifiers.org/clinvar/329035 ^@ NM_000540.2(RYR1):c.5321C>T (p.Pro1774Leu) http://identifiers.org/clinvar/329036 ^@ NM_000540.2(RYR1):c.5385G>C (p.Pro1795=) http://identifiers.org/clinvar/317473 ^@ NM_000875.4(IGF1R):c.*149C>T http://identifiers.org/clinvar/317474 ^@ NM_000875.4(IGF1R):c.*199C>T http://identifiers.org/clinvar/310942 ^@ NM_000123.3(ERCC5):c.3486C>T (p.Leu1162=) http://identifiers.org/clinvar/310949 ^@ NM_002312.3(LIG4):c.*983G>A http://identifiers.org/clinvar/310952 ^@ NM_002312.3(LIG4):c.*826A>T http://identifiers.org/clinvar/317480 ^@ NM_000875.4(IGF1R):c.*417_*418delCT http://identifiers.org/clinvar/329043 ^@ NM_000540.2(RYR1):c.6023T>C (p.Met2008Thr) http://identifiers.org/clinvar/317489 ^@ NM_000875.4(IGF1R):c.*837C>T http://identifiers.org/clinvar/309490 ^@ NM_002282.3(KRT83):c.*138C>T http://identifiers.org/clinvar/317490 ^@ NM_000875.4(IGF1R):c.*866dupC http://identifiers.org/clinvar/317492 ^@ NM_000875.4(IGF1R):c.*910C>T http://identifiers.org/clinvar/310953 ^@ NM_002312.3(LIG4):c.*738G>A http://identifiers.org/clinvar/309494 ^@ NM_002282.3(KRT83):c.1477C>T (p.His493Tyr) http://identifiers.org/clinvar/309495 ^@ NM_002282.3(KRT83):c.1423C>T (p.Pro475Ser) http://identifiers.org/clinvar/309497 ^@ NM_002282.3(KRT83):c.1398G>A (p.Leu466=) http://identifiers.org/clinvar/329044 ^@ NM_000540.2(RYR1):c.6078G>A (p.Glu2026=) http://identifiers.org/clinvar/309501 ^@ NM_002282.3(KRT83):c.1100G>A (p.Ser367Asn) http://identifiers.org/clinvar/309506 ^@ NM_002282.3(KRT83):c.1041+6A>G http://identifiers.org/clinvar/309510 ^@ NM_002282.3(KRT83):c.1014A>G (p.Thr338=) http://identifiers.org/clinvar/310955 ^@ NM_002312.3(LIG4):c.*625_*629delAATTG http://identifiers.org/clinvar/310956 ^@ NM_002312.3(LIG4):c.*614A>C http://identifiers.org/clinvar/329047 ^@ NM_000540.2(RYR1):c.6318C>A (p.Ala2106=) http://identifiers.org/clinvar/329051 ^@ NM_000540.2(RYR1):c.6407G>A (p.Arg2136His) http://identifiers.org/clinvar/309513 ^@ NM_002282.3(KRT83):c.910A>T (p.Ser304Cys) http://identifiers.org/clinvar/317508 ^@ NM_000875.4(IGF1R):c.*1572G>A http://identifiers.org/clinvar/329056 ^@ NM_000540.2(RYR1):c.6910G>A (p.Gly2304Ser) http://identifiers.org/clinvar/317522 ^@ NM_000875.4(IGF1R):c.*1945C>T http://identifiers.org/clinvar/329057 ^@ NM_000540.2(RYR1):c.7028-11C>G http://identifiers.org/clinvar/310964 ^@ NM_002312.3(LIG4):c.*204A>G http://identifiers.org/clinvar/329064 ^@ NM_000540.2(RYR1):c.7536C>T (p.Ile2512=) http://identifiers.org/clinvar/317528 ^@ NM_000875.4(IGF1R):c.*2343C>T http://identifiers.org/clinvar/317531 ^@ NM_000875.4(IGF1R):c.*2426delA http://identifiers.org/clinvar/310966 ^@ NM_002312.3(LIG4):c.*131A>T http://identifiers.org/clinvar/309515 ^@ NM_002282.3(KRT83):c.877C>T (p.Arg293Cys) http://identifiers.org/clinvar/310968 ^@ NM_002312.3(LIG4):c.*104C>G http://identifiers.org/clinvar/310970 ^@ NM_002312.3(LIG4):c.*54G>A http://identifiers.org/clinvar/310971 ^@ NM_002312.3(LIG4):c.*34T>G http://identifiers.org/clinvar/310972 ^@ NM_002312.3(LIG4):c.*26delC http://identifiers.org/clinvar/310975 ^@ NM_002312.3(LIG4):c.2525C>A (p.Ala842Asp) http://identifiers.org/clinvar/310979 ^@ NM_002312.3(LIG4):c.2222G>A (p.Arg741His) http://identifiers.org/clinvar/317547 ^@ NM_000875.4(IGF1R):c.*3165T>C http://identifiers.org/clinvar/309519 ^@ NM_002282.3(KRT83):c.768A>G (p.Gln256=) http://identifiers.org/clinvar/317549 ^@ NM_000875.4(IGF1R):c.*3199C>T http://identifiers.org/clinvar/317551 ^@ NM_000875.4(IGF1R):c.*3333G>A http://identifiers.org/clinvar/329065 ^@ NM_000540.2(RYR1):c.7640C>T (p.Ala2547Val) http://identifiers.org/clinvar/329066 ^@ NM_000540.2(RYR1):c.7755C>T (p.Thr2585=) http://identifiers.org/clinvar/329067 ^@ NM_000540.2(RYR1):c.7788C>T (p.Thr2596=) http://identifiers.org/clinvar/329068 ^@ NM_000540.2(RYR1):c.7813G>A (p.Asp2605Asn) http://identifiers.org/clinvar/310980 ^@ NM_002312.3(LIG4):c.1983T>C (p.Asp661=) http://identifiers.org/clinvar/317552 ^@ NM_000875.4(IGF1R):c.*3338G>A http://identifiers.org/clinvar/309521 ^@ NM_002282.3(KRT83):c.750+15A>G http://identifiers.org/clinvar/317554 ^@ NM_000875.4(IGF1R):c.*3440G>A http://identifiers.org/clinvar/329070 ^@ NM_000540.2(RYR1):c.7855C>T (p.Leu2619=) http://identifiers.org/clinvar/310981 ^@ NM_002312.3(LIG4):c.1756G>T (p.Asp586Tyr) http://identifiers.org/clinvar/317563 ^@ NM_000875.4(IGF1R):c.*3616C>G http://identifiers.org/clinvar/310984 ^@ NM_002312.3(LIG4):c.1252T>C (p.Leu418=) http://identifiers.org/clinvar/309525 ^@ NM_002282.3(KRT83):c.666C>T (p.Cys222=) http://identifiers.org/clinvar/329081 ^@ NM_000540.2(RYR1):c.8554C>T (p.Arg2852Ter) http://identifiers.org/clinvar/317565 ^@ NM_000875.4(IGF1R):c.*3731dupT http://identifiers.org/clinvar/310990 ^@ NM_002312.3(LIG4):c.563G>A (p.Arg188Gln) http://identifiers.org/clinvar/329086 ^@ NM_000540.2(RYR1):c.9148G>A (p.Val3050Ile) http://identifiers.org/clinvar/309528 ^@ NM_002282.3(KRT83):c.605_607delAAG (p.Glu202del) http://identifiers.org/clinvar/317566 ^@ NM_000875.4(IGF1R):c.*3766C>T http://identifiers.org/clinvar/329087 ^@ NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) http://identifiers.org/clinvar/329099 ^@ NM_000540.2(RYR1):c.10359C>T (p.Arg3453=) http://identifiers.org/clinvar/329108 ^@ NM_000540.2(RYR1):c.11412C>T (p.Leu3804=) http://identifiers.org/clinvar/310991 ^@ NM_002312.3(LIG4):c.560T>C (p.Ile187Thr) http://identifiers.org/clinvar/310992 ^@ NM_002312.3(LIG4):c.500T>G (p.Ile167Arg) http://identifiers.org/clinvar/310994 ^@ NM_002312.3(LIG4):c.180C>T (p.Val60=) http://identifiers.org/clinvar/311000 ^@ NM_002312.3(LIG4):c.-196G>A http://identifiers.org/clinvar/329109 ^@ NM_000540.2(RYR1):c.11517C>T (p.Ser3839=) http://identifiers.org/clinvar/317569 ^@ NM_000875.4(IGF1R):c.*3999A>G http://identifiers.org/clinvar/309533 ^@ NM_002282.3(KRT83):c.497C>G (p.Thr166Ser) http://identifiers.org/clinvar/317572 ^@ NM_000875.4(IGF1R):c.*4172C>T http://identifiers.org/clinvar/329119 ^@ NM_000540.2(RYR1):c.12802G>A (p.Ala4268Thr) http://identifiers.org/clinvar/311006 ^@ NM_001845.5(COL4A1):c.*975A>C http://identifiers.org/clinvar/309546 ^@ NM_002282.3(KRT83):c.67T>G (p.Cys23Gly) http://identifiers.org/clinvar/311009 ^@ NM_001845.5(COL4A1):c.*646_*647dupAT http://identifiers.org/clinvar/317573 ^@ NM_000875.4(IGF1R):c.*4186A>G http://identifiers.org/clinvar/317576 ^@ NM_000875.4(IGF1R):c.*4391C>T http://identifiers.org/clinvar/329121 ^@ NM_000540.2(RYR1):c.12954G>A (p.Arg4318=) http://identifiers.org/clinvar/317584 ^@ NM_000875.4(IGF1R):c.*4521G>A http://identifiers.org/clinvar/309554 ^@ NM_000424.3(KRT5):c.1736C>A (p.Ser579Tyr) http://identifiers.org/clinvar/317586 ^@ NM_000875.4(IGF1R):c.*4599C>T http://identifiers.org/clinvar/311019 ^@ NM_001845.5(COL4A1):c.4941G>A (p.Pro1647=) http://identifiers.org/clinvar/329122 ^@ NM_000540.2(RYR1):c.13038T>C (p.Ala4346=) http://identifiers.org/clinvar/309557 ^@ NM_000424.3(KRT5):c.1555G>A (p.Gly519Ser) http://identifiers.org/clinvar/309561 ^@ NM_000424.3(KRT5):c.1194C>T (p.Ala398=) http://identifiers.org/clinvar/329124 ^@ NM_000540.2(RYR1):c.13191C>T (p.Ala4397=) http://identifiers.org/clinvar/317590 ^@ NM_000875.4(IGF1R):c.*4761C>T http://identifiers.org/clinvar/309562 ^@ NM_000424.3(KRT5):c.1118G>C (p.Gly373Ala) http://identifiers.org/clinvar/311020 ^@ NM_001845.5(COL4A1):c.4658C>T (p.Ala1553Val) http://identifiers.org/clinvar/329127 ^@ NM_000540.2(RYR1):c.13352C>A (p.Ala4451Asp) http://identifiers.org/clinvar/309563 ^@ NM_000424.3(KRT5):c.1071C>T (p.Ala357=) http://identifiers.org/clinvar/309564 ^@ NM_000424.3(KRT5):c.877G>A (p.Val293Ile) http://identifiers.org/clinvar/317593 ^@ NM_000875.4(IGF1R):c.*4815G>A http://identifiers.org/clinvar/311021 ^@ NM_001845.5(COL4A1):c.4640+8G>A http://identifiers.org/clinvar/317600 ^@ NM_000875.4(IGF1R):c.*5152T>G http://identifiers.org/clinvar/311023 ^@ NM_001845.5(COL4A1):c.4441C>T (p.Arg1481Trp) http://identifiers.org/clinvar/309566 ^@ NM_000424.3(KRT5):c.702G>T (p.Val234=) http://identifiers.org/clinvar/317602 ^@ NM_000875.4(IGF1R):c.*5309C>T http://identifiers.org/clinvar/317603 ^@ NM_000875.4(IGF1R):c.*5428A>G http://identifiers.org/clinvar/329128 ^@ NM_000540.2(RYR1):c.13359_13364dupTCTCGG (p.Gly4455_Asp4456insLeuGly) http://identifiers.org/clinvar/329129 ^@ NM_000540.2(RYR1):c.13437+14C>A http://identifiers.org/clinvar/311028 ^@ NM_001845.5(COL4A1):c.4038T>C (p.Pro1346=) http://identifiers.org/clinvar/311031 ^@ NM_001845.5(COL4A1):c.4005C>T (p.Gly1335=) http://identifiers.org/clinvar/309574 ^@ NM_000424.3(KRT5):c.115G>A (p.Gly39Arg) http://identifiers.org/clinvar/329136 ^@ NM_000540.2(RYR1):c.14283G>A (p.Pro4761=) http://identifiers.org/clinvar/329139 ^@ NM_000540.2(RYR1):c.14706C>T (p.Ile4902=) http://identifiers.org/clinvar/329142 ^@ NM_000540.2(RYR1):c.*135C>T http://identifiers.org/clinvar/309581 ^@ NM_000424.3(KRT5):c.-131A>G http://identifiers.org/clinvar/309589 ^@ NM_000423.2(KRT2):c.*279T>C http://identifiers.org/clinvar/309592 ^@ NM_000423.2(KRT2):c.*215C>T http://identifiers.org/clinvar/317605 ^@ NM_000875.4(IGF1R):c.*5458A>G http://identifiers.org/clinvar/328983 ^@ NM_033064.4(ATCAY):c.-198C>G http://identifiers.org/clinvar/317609 ^@ NM_000875.4(IGF1R):c.*5570C>T http://identifiers.org/clinvar/342051 ^@ NM_024105.3(ALG12):c.501C>T (p.His167=) http://identifiers.org/clinvar/342054 ^@ NM_024105.3(ALG12):c.470-12A>T http://identifiers.org/clinvar/340050 ^@ NM_024022.2(TMPRSS3):c.*397C>A http://identifiers.org/clinvar/340051 ^@ NM_024022.2(TMPRSS3):c.*287C>T http://identifiers.org/clinvar/342055 ^@ NM_024105.3(ALG12):c.469+14G>A http://identifiers.org/clinvar/342062 ^@ NM_024105.3(ALG12):c.48G>C (p.Leu16=) http://identifiers.org/clinvar/340057 ^@ NM_024022.2(TMPRSS3):c.*81C>T http://identifiers.org/clinvar/340062 ^@ NM_024022.2(TMPRSS3):c.-36G>C http://identifiers.org/clinvar/342066 ^@ NM_024105.3(ALG12):c.-141T>C http://identifiers.org/clinvar/340078 ^@ NM_000071.2(CBS):c.*81G>A http://identifiers.org/clinvar/342072 ^@ NM_015166.3(MLC1):c.*2051G>A http://identifiers.org/clinvar/342081 ^@ NM_015166.3(MLC1):c.*1493A>G http://identifiers.org/clinvar/340096 ^@ NM_000394.3(CRYAA):c.154C>T (p.Leu52Phe) http://identifiers.org/clinvar/340098 ^@ NM_000394.3(CRYAA):c.246G>A (p.Pro82=) http://identifiers.org/clinvar/342092 ^@ NM_015166.3(MLC1):c.*788G>A http://identifiers.org/clinvar/340101 ^@ NM_000394.3(CRYAA):c.375C>A (p.Asp125Glu) http://identifiers.org/clinvar/342095 ^@ NM_015166.3(MLC1):c.*607C>T http://identifiers.org/clinvar/340103 ^@ NM_000394.3(CRYAA):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/340108 ^@ NM_000394.3(CRYAA):c.*253C>T http://identifiers.org/clinvar/342099 ^@ NM_015166.3(MLC1):c.*414C>T http://identifiers.org/clinvar/342100 ^@ NM_015166.3(MLC1):c.*377_*378insGGGGGTC http://identifiers.org/clinvar/342107 ^@ NM_015166.3(MLC1):c.561A>C (p.Glu187Asp) http://identifiers.org/clinvar/342120 ^@ NM_015166.3(MLC1):c.-540G>A http://identifiers.org/clinvar/342121 ^@ NM_015166.3(MLC1):c.-561G>A http://identifiers.org/clinvar/340110 ^@ NM_000394.3(CRYAA):c.*376G>C http://identifiers.org/clinvar/340120 ^@ NM_000100.3(CSTB):c.*69A>G http://identifiers.org/clinvar/342125 ^@ NM_005138.2(SCO2):c.244A>G (p.Lys82Glu) http://identifiers.org/clinvar/342129 ^@ NM_005138.2(SCO2):c.-51C>T http://identifiers.org/clinvar/340121 ^@ NM_000100.3(CSTB):c.169-14C>T http://identifiers.org/clinvar/342130 ^@ NM_005138.2(SCO2):c.-78G>C http://identifiers.org/clinvar/342138 ^@ NM_001169109.1(SCO2):c.-26G>A http://identifiers.org/clinvar/340123 ^@ NM_000100.3(CSTB):c.-43C>G http://identifiers.org/clinvar/342139 ^@ NM_001169109.1(SCO2):c.-36G>A http://identifiers.org/clinvar/342141 ^@ NM_001169109.1(SCO2):c.-145T>G http://identifiers.org/clinvar/342142 ^@ NM_001169109.1(SCO2):c.-178C>T http://identifiers.org/clinvar/340130 ^@ NM_000211.4(ITGB2):c.*168G>T http://identifiers.org/clinvar/342148 ^@ NM_001953.4(TYMP):c.647-8C>T http://identifiers.org/clinvar/342149 ^@ NM_001953.4(TYMP):c.586G>C (p.Gly196Arg) http://identifiers.org/clinvar/340132 ^@ NM_000211.4(ITGB2):c.*145C>T http://identifiers.org/clinvar/340134 ^@ NM_000211.4(ITGB2):c.*122G>A http://identifiers.org/clinvar/342154 ^@ NM_001953.4(TYMP):c.214+6_214+7delTG http://identifiers.org/clinvar/340140 ^@ NM_000211.4(ITGB2):c.2078G>A (p.Arg693Gln) http://identifiers.org/clinvar/342157 ^@ NM_001953.4(TYMP):c.-84T>C http://identifiers.org/clinvar/340141 ^@ NM_000211.4(ITGB2):c.2050C>T (p.Arg684Cys) http://identifiers.org/clinvar/340143 ^@ NM_000211.4(ITGB2):c.1877+12C>A http://identifiers.org/clinvar/342165 ^@ NM_005198.4(CHKB):c.1114-3T>G http://identifiers.org/clinvar/342168 ^@ NM_005198.4(CHKB):c.944A>G (p.His315Arg) http://identifiers.org/clinvar/340146 ^@ NM_000211.4(ITGB2):c.1784G>A (p.Arg595Gln) http://identifiers.org/clinvar/342169 ^@ NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) http://identifiers.org/clinvar/342174 ^@ NM_005198.4(CHKB):c.692C>G (p.Ser231Cys) http://identifiers.org/clinvar/340147 ^@ NM_000211.4(ITGB2):c.1725C>T (p.Cys575=) http://identifiers.org/clinvar/342175 ^@ NM_005198.4(CHKB):c.275C>T (p.Pro92Leu) http://identifiers.org/clinvar/340149 ^@ NM_000211.4(ITGB2):c.1678G>C (p.Gly560Arg) http://identifiers.org/clinvar/342179 ^@ NM_005198.4(CHKB):c.-27G>A http://identifiers.org/clinvar/340151 ^@ NM_000211.4(ITGB2):c.1575C>T (p.Pro525=) http://identifiers.org/clinvar/342181 ^@ NM_005198.4(CHKB):c.-94G>A http://identifiers.org/clinvar/340154 ^@ NM_000211.4(ITGB2):c.1324C>T (p.Leu442Phe) http://identifiers.org/clinvar/342182 ^@ NM_005198.4(CHKB):c.-97G>C http://identifiers.org/clinvar/340160 ^@ NM_000211.4(ITGB2):c.1002C>T (p.Thr334=) http://identifiers.org/clinvar/342184 ^@ NM_000487.5(ARSA):c.*2316C>T http://identifiers.org/clinvar/340168 ^@ NM_000211.4(ITGB2):c.589G>A (p.Glu197Lys) http://identifiers.org/clinvar/340169 ^@ NM_000211.4(ITGB2):c.537C>T (p.Phe179=) http://identifiers.org/clinvar/342195 ^@ NM_000487.5(ARSA):c.*1617G>A http://identifiers.org/clinvar/340170 ^@ NM_000211.4(ITGB2):c.528G>C (p.Val176=) http://identifiers.org/clinvar/342197 ^@ NM_000487.5(ARSA):c.*1570C>T http://identifiers.org/clinvar/340182 ^@ NM_000211.4(ITGB2):c.54G>A (p.Gly18=) http://identifiers.org/clinvar/342202 ^@ NM_000487.5(ARSA):c.*1372G>T http://identifiers.org/clinvar/340187 ^@ NM_000211.4(ITGB2):c.-39G>A http://identifiers.org/clinvar/342210 ^@ NM_000487.5(ARSA):c.*1206G>T http://identifiers.org/clinvar/340190 ^@ NM_130445.3(COL18A1):c.110G>A (p.Arg37His) http://identifiers.org/clinvar/340198 ^@ NM_130445.3(COL18A1):c.624G>A (p.Ala208=) http://identifiers.org/clinvar/340199 ^@ NM_130445.3(COL18A1):c.651+6C>T http://identifiers.org/clinvar/340202 ^@ NM_130445.3(COL18A1):c.714C>T (p.Asp238=) http://identifiers.org/clinvar/340203 ^@ NM_130445.3(COL18A1):c.743C>T (p.Ser248Phe) http://identifiers.org/clinvar/340209 ^@ NM_130445.3(COL18A1):c.996C>T (p.Arg332=) http://identifiers.org/clinvar/340214 ^@ NM_130445.3(COL18A1):c.1221+20dupC http://identifiers.org/clinvar/340215 ^@ NM_130445.3(COL18A1):c.1224C>G (p.Gly408=) http://identifiers.org/clinvar/340216 ^@ NM_130445.3(COL18A1):c.1275C>T (p.Pro425=) http://identifiers.org/clinvar/340218 ^@ NM_130445.3(COL18A1):c.1305C>A (p.Gly435=) http://identifiers.org/clinvar/340219 ^@ NM_130445.3(COL18A1):c.1390G>A (p.Asp464Asn) http://identifiers.org/clinvar/340223 ^@ NM_130445.3(COL18A1):c.1507G>A (p.Gly503Ser) http://identifiers.org/clinvar/340225 ^@ NM_130445.3(COL18A1):c.1581C>G (p.Arg527=) http://identifiers.org/clinvar/340227 ^@ NM_130445.3(COL18A1):c.1687G>A (p.Ala563Thr) http://identifiers.org/clinvar/340228 ^@ NM_130445.3(COL18A1):c.1707C>T (p.Ser569=) http://identifiers.org/clinvar/340230 ^@ NM_130445.3(COL18A1):c.1938G>T (p.Val646=) http://identifiers.org/clinvar/340231 ^@ NM_130445.3(COL18A1):c.1986C>T (p.Pro662=) http://identifiers.org/clinvar/340254 ^@ NM_130445.3(COL18A1):c.2693C>T (p.Pro898Leu) http://identifiers.org/clinvar/340262 ^@ NM_130445.3(COL18A1):c.2947C>T (p.Pro983Ser) http://identifiers.org/clinvar/340263 ^@ NM_130445.3(COL18A1):c.3021C>T (p.Gly1007=) http://identifiers.org/clinvar/340271 ^@ NM_130445.3(COL18A1):c.3681C>T (p.Leu1227=) http://identifiers.org/clinvar/340273 ^@ NM_130445.3(COL18A1):c.3778G>A (p.Asp1260Asn) http://identifiers.org/clinvar/340274 ^@ NM_130445.3(COL18A1):c.3823G>T (p.Gly1275Cys) http://identifiers.org/clinvar/340280 ^@ NM_130445.3(COL18A1):c.*302C>A http://identifiers.org/clinvar/340288 ^@ NM_130445.3(COL18A1):c.*498G>A http://identifiers.org/clinvar/340290 ^@ NM_130445.3(COL18A1):c.*532T>C http://identifiers.org/clinvar/340301 ^@ NM_130445.3(COL18A1):c.*1148_*1149insCA http://identifiers.org/clinvar/340307 ^@ NM_001848.2(COL6A1):c.739-9C>T http://identifiers.org/clinvar/342211 ^@ NM_000487.5(ARSA):c.*1076A>T http://identifiers.org/clinvar/342216 ^@ NM_000487.5(ARSA):c.*855G>A http://identifiers.org/clinvar/340312 ^@ NM_001848.2(COL6A1):c.985G>A (p.Gly329Arg) http://identifiers.org/clinvar/340325 ^@ NM_001848.2(COL6A1):c.1890C>T (p.Asn630=) http://identifiers.org/clinvar/340327 ^@ NM_001848.2(COL6A1):c.2019C>G (p.His673Gln) http://identifiers.org/clinvar/340329 ^@ NM_001848.2(COL6A1):c.2958G>C (p.Leu986=) http://identifiers.org/clinvar/342217 ^@ NM_000487.5(ARSA):c.*794C>T http://identifiers.org/clinvar/342219 ^@ NM_000487.5(ARSA):c.*741C>T http://identifiers.org/clinvar/340337 ^@ NM_001848.2(COL6A1):c.*294G>A http://identifiers.org/clinvar/342220 ^@ NM_000487.5(ARSA):c.*729C>T http://identifiers.org/clinvar/340339 ^@ NM_001848.2(COL6A1):c.*343G>A http://identifiers.org/clinvar/342227 ^@ NM_000487.5(ARSA):c.*340T>A http://identifiers.org/clinvar/342233 ^@ NM_000487.5(ARSA):c.*103C>T http://identifiers.org/clinvar/342235 ^@ NM_000487.5(ARSA):c.1211-15T>C http://identifiers.org/clinvar/342238 ^@ NM_000487.5(ARSA):c.369C>T (p.Ala123=) http://identifiers.org/clinvar/340341 ^@ NM_001848.2(COL6A1):c.*379C>A http://identifiers.org/clinvar/340343 ^@ NM_001848.2(COL6A1):c.*441G>A http://identifiers.org/clinvar/340350 ^@ NM_001848.2(COL6A1):c.*729C>T http://identifiers.org/clinvar/340352 ^@ NM_001848.2(COL6A1):c.*785C>T http://identifiers.org/clinvar/340354 ^@ NM_001848.2(COL6A1):c.*814C>T http://identifiers.org/clinvar/340355 ^@ NM_001848.2(COL6A1):c.*851T>C http://identifiers.org/clinvar/340359 ^@ NM_001849.3(COL6A2):c.116-11G>A http://identifiers.org/clinvar/340362 ^@ NM_001849.3(COL6A2):c.620C>G (p.Thr207Arg) http://identifiers.org/clinvar/342242 ^@ NM_000487.5(ARSA):c.-88G>A http://identifiers.org/clinvar/340371 ^@ NM_001849.3(COL6A2):c.1911C>T (p.Phe637=) http://identifiers.org/clinvar/340372 ^@ NM_001849.3(COL6A2):c.2134G>T (p.Asp712Tyr) http://identifiers.org/clinvar/340373 ^@ NM_001849.3(COL6A2):c.2250C>T (p.Arg750=) http://identifiers.org/clinvar/342247 ^@ NM_000487.5(ARSA):c.-224C>G http://identifiers.org/clinvar/342248 ^@ NM_000487.5(ARSA):c.-330C>T http://identifiers.org/clinvar/340377 ^@ NM_001849.3(COL6A2):c.2436G>A (p.Val812=) http://identifiers.org/clinvar/342249 ^@ NM_000487.5(ARSA):c.-345G>C http://identifiers.org/clinvar/340379 ^@ NM_001849.3(COL6A2):c.2523C>T (p.Ser841=) http://identifiers.org/clinvar/340384 ^@ NM_001849.3(COL6A2):c.2856G>A (p.Thr952=) http://identifiers.org/clinvar/340387 ^@ NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) http://identifiers.org/clinvar/367691 ^@ NM_000061.2(BTK):c.*342T>G http://identifiers.org/clinvar/367693 ^@ NM_000061.2(BTK):c.*192G>A http://identifiers.org/clinvar/340390 ^@ NM_001849.3(COL6A2):c.*31C>T http://identifiers.org/clinvar/367699 ^@ NM_000061.2(BTK):c.-105G>T http://identifiers.org/clinvar/367700 ^@ NM_000169.2(GLA):c.457G>A (p.Asp153Asn) http://identifiers.org/clinvar/367701 ^@ NM_002764.3(PRPS1):c.-153delG http://identifiers.org/clinvar/367702 ^@ NM_002764.3(PRPS1):c.444G>A (p.Glu148=) http://identifiers.org/clinvar/340391 ^@ NM_001849.3(COL6A2):c.*45G>A http://identifiers.org/clinvar/340398 ^@ NM_001849.3(COL6A2):c.*116T>C http://identifiers.org/clinvar/367705 ^@ NM_002764.3(PRPS1):c.*166G>A http://identifiers.org/clinvar/367707 ^@ NM_002764.3(PRPS1):c.*389G>C http://identifiers.org/clinvar/340402 ^@ NM_001849.3(COL6A2):c.*147C>T http://identifiers.org/clinvar/340403 ^@ NM_001849.3(COL6A2):c.*158C>T http://identifiers.org/clinvar/367711 ^@ NM_002764.3(PRPS1):c.*762G>T http://identifiers.org/clinvar/367712 ^@ NM_002764.3(PRPS1):c.*938dupA http://identifiers.org/clinvar/340407 ^@ NM_006657.2(FTCD):c.*113C>T http://identifiers.org/clinvar/367713 ^@ NM_002578.4(PAK3):c.-15T>C http://identifiers.org/clinvar/367715 ^@ NM_002578.4(PAK3):c.492T>A (p.Pro164=) http://identifiers.org/clinvar/367716 ^@ NM_002578.4(PAK3):c.601-3dupT http://identifiers.org/clinvar/367719 ^@ NM_002578.4(PAK3):c.*83C>T http://identifiers.org/clinvar/340412 ^@ NM_006657.2(FTCD):c.1589C>T (p.Ala530Val) http://identifiers.org/clinvar/340418 ^@ NM_006657.2(FTCD):c.1352C>T (p.Pro451Leu) http://identifiers.org/clinvar/340421 ^@ NM_006657.2(FTCD):c.1261-13C>G http://identifiers.org/clinvar/340430 ^@ NM_006657.2(FTCD):c.636+9G>A http://identifiers.org/clinvar/340440 ^@ NM_006657.2(FTCD):c.367+13C>T http://identifiers.org/clinvar/340443 ^@ NM_006657.2(FTCD):c.267C>T (p.Asp89=) http://identifiers.org/clinvar/340444 ^@ NM_006657.2(FTCD):c.250C>T (p.Arg84Cys) http://identifiers.org/clinvar/340451 ^@ NM_006657.2(FTCD):c.36G>A (p.Ser12=) http://identifiers.org/clinvar/340455 ^@ NM_006031.5(PCNT):c.-100delG http://identifiers.org/clinvar/340454 ^@ NM_006031.5(PCNT):c.-100dupG http://identifiers.org/clinvar/340456 ^@ NM_006031.5(PCNT):c.-75G>A http://identifiers.org/clinvar/340464 ^@ NM_006031.5(PCNT):c.788A>G (p.Glu263Gly) http://identifiers.org/clinvar/367721 ^@ NM_080632.2(UPF3B):c.*772G>A http://identifiers.org/clinvar/367729 ^@ NM_080632.2(UPF3B):c.*49C>T http://identifiers.org/clinvar/340466 ^@ NM_006031.5(PCNT):c.947A>T (p.Glu316Val) http://identifiers.org/clinvar/340467 ^@ NM_006031.5(PCNT):c.1107T>C (p.His369=) http://identifiers.org/clinvar/340468 ^@ NM_006031.5(PCNT):c.1155A>G (p.Ala385=) http://identifiers.org/clinvar/340472 ^@ NM_006031.5(PCNT):c.1479G>A (p.Ala493=) http://identifiers.org/clinvar/340473 ^@ NM_006031.5(PCNT):c.1784C>T (p.Ala595Val) http://identifiers.org/clinvar/340478 ^@ NM_006031.5(PCNT):c.2647A>G (p.Ser883Gly) http://identifiers.org/clinvar/340482 ^@ NM_006031.5(PCNT):c.3395G>A (p.Arg1132Gln) http://identifiers.org/clinvar/340484 ^@ NM_006031.5(PCNT):c.3682A>G (p.Met1228Val) http://identifiers.org/clinvar/340487 ^@ NM_006031.5(PCNT):c.3762G>A (p.Gln1254=) http://identifiers.org/clinvar/340488 ^@ NM_006031.5(PCNT):c.4223G>A (p.Arg1408Gln) http://identifiers.org/clinvar/340491 ^@ NM_006031.5(PCNT):c.4432C>T (p.Arg1478Trp) http://identifiers.org/clinvar/340504 ^@ NM_006031.5(PCNT):c.5648G>A (p.Arg1883Gln) http://identifiers.org/clinvar/367733 ^@ NM_080632.2(UPF3B):c.-67T>G http://identifiers.org/clinvar/367735 ^@ NM_002294.2(LAMP2):c.*5172A>G http://identifiers.org/clinvar/340505 ^@ NM_006031.5(PCNT):c.5707C>T (p.Arg1903Cys) http://identifiers.org/clinvar/340507 ^@ NM_006031.5(PCNT):c.5741C>T (p.Ala1914Val) http://identifiers.org/clinvar/340512 ^@ NM_006031.5(PCNT):c.6032C>T (p.Ala2011Val) http://identifiers.org/clinvar/340513 ^@ NM_006031.5(PCNT):c.6150+10G>C http://identifiers.org/clinvar/367740 ^@ NM_002294.2(LAMP2):c.*4858A>G http://identifiers.org/clinvar/367742 ^@ NM_002294.2(LAMP2):c.*4671C>T http://identifiers.org/clinvar/340519 ^@ NM_006031.5(PCNT):c.6590T>C (p.Leu2197Pro) http://identifiers.org/clinvar/340520 ^@ NM_006031.5(PCNT):c.6648C>T (p.Val2216=) http://identifiers.org/clinvar/340523 ^@ NM_006031.5(PCNT):c.6914C>T (p.Thr2305Met) http://identifiers.org/clinvar/340525 ^@ NM_006031.5(PCNT):c.6983C>T (p.Pro2328Leu) http://identifiers.org/clinvar/340528 ^@ NM_006031.5(PCNT):c.7180-8C>T http://identifiers.org/clinvar/340536 ^@ NM_006031.5(PCNT):c.8830_8832delAAG (p.Lys2944del) http://identifiers.org/clinvar/340538 ^@ NM_006031.5(PCNT):c.8996+5G>A http://identifiers.org/clinvar/367743 ^@ NM_002294.2(LAMP2):c.*4579A>G http://identifiers.org/clinvar/367751 ^@ NM_002294.2(LAMP2):c.*3248G>A http://identifiers.org/clinvar/367753 ^@ NM_002294.2(LAMP2):c.*2736T>A http://identifiers.org/clinvar/367755 ^@ NM_002294.2(LAMP2):c.*2524T>C http://identifiers.org/clinvar/367760 ^@ NM_002294.2(LAMP2):c.*2183T>C http://identifiers.org/clinvar/367761 ^@ NM_002294.2(LAMP2):c.*2160_*2161dupAT http://identifiers.org/clinvar/367762 ^@ NM_002294.2(LAMP2):c.*2158_*2161dupATAT http://identifiers.org/clinvar/367768 ^@ NM_002294.2(LAMP2):c.*1632A>G http://identifiers.org/clinvar/340540 ^@ NM_006031.5(PCNT):c.9099+14G>A http://identifiers.org/clinvar/340547 ^@ NM_006031.5(PCNT):c.9949T>C (p.Leu3317=) http://identifiers.org/clinvar/367771 ^@ NM_002294.2(LAMP2):c.*1356C>G http://identifiers.org/clinvar/367773 ^@ NM_002294.2(LAMP2):c.*1191A>T http://identifiers.org/clinvar/340548 ^@ NM_006031.5(PCNT):c.*22delC http://identifiers.org/clinvar/367781 ^@ NM_002294.2(LAMP2):c.*486A>G http://identifiers.org/clinvar/340549 ^@ NM_006031.5(PCNT):c.*101T>G http://identifiers.org/clinvar/367782 ^@ NM_002294.2(LAMP2):c.*477T>C http://identifiers.org/clinvar/340551 ^@ NM_006031.5(PCNT):c.*343_*346delGTTT http://identifiers.org/clinvar/340552 ^@ NM_006031.5(PCNT):c.*391_*396delACAAAA http://identifiers.org/clinvar/340554 ^@ NM_014339.6(IL17RA):c.-126C>G http://identifiers.org/clinvar/340555 ^@ NM_014339.6(IL17RA):c.-95G>C http://identifiers.org/clinvar/340556 ^@ NM_014339.6(IL17RA):c.-94C>A http://identifiers.org/clinvar/340558 ^@ NM_014339.6(IL17RA):c.-42G>A http://identifiers.org/clinvar/340566 ^@ NM_014339.6(IL17RA):c.199A>G (p.Asn67Asp) http://identifiers.org/clinvar/340568 ^@ NM_014339.6(IL17RA):c.354G>A (p.Gln118=) http://identifiers.org/clinvar/340571 ^@ NM_014339.6(IL17RA):c.424-12C>T http://identifiers.org/clinvar/340576 ^@ NM_014339.6(IL17RA):c.598+5C>T http://identifiers.org/clinvar/340579 ^@ NM_014339.6(IL17RA):c.676G>C (p.Glu226Gln) http://identifiers.org/clinvar/340581 ^@ NM_014339.6(IL17RA):c.813C>A (p.Arg271=) http://identifiers.org/clinvar/367783 ^@ NM_002294.2(LAMP2):c.*297A>C http://identifiers.org/clinvar/367787 ^@ NM_002294.2(LAMP2):c.997A>G (p.Lys333Glu) http://identifiers.org/clinvar/340583 ^@ NM_014339.6(IL17RA):c.847A>G (p.Ile283Val) http://identifiers.org/clinvar/367788 ^@ NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) http://identifiers.org/clinvar/367792 ^@ NM_001167.3(XIAP):c.309G>A (p.Thr103=) http://identifiers.org/clinvar/367794 ^@ NM_001167.3(XIAP):c.962C>G (p.Ala321Gly) http://identifiers.org/clinvar/367803 ^@ NM_001167.3(XIAP):c.*1179_*1182delATTA http://identifiers.org/clinvar/367804 ^@ NM_001167.3(XIAP):c.*1298G>C http://identifiers.org/clinvar/367807 ^@ NM_001167.3(XIAP):c.*1940T>C http://identifiers.org/clinvar/367809 ^@ NM_001167.3(XIAP):c.*2296_*2300delATAGT http://identifiers.org/clinvar/367812 ^@ NM_001167.3(XIAP):c.*2622G>A http://identifiers.org/clinvar/367820 ^@ NM_001167.3(XIAP):c.*3201A>G http://identifiers.org/clinvar/367823 ^@ NM_001167.3(XIAP):c.*3573G>A http://identifiers.org/clinvar/367826 ^@ NM_001167.3(XIAP):c.*3702dupA http://identifiers.org/clinvar/367827 ^@ NM_001167.3(XIAP):c.*3707T>G http://identifiers.org/clinvar/367831 ^@ NM_001167.3(XIAP):c.*4078C>A http://identifiers.org/clinvar/367834 ^@ NM_001167.3(XIAP):c.*4309dupA http://identifiers.org/clinvar/367841 ^@ NM_001167.3(XIAP):c.*5047dupA http://identifiers.org/clinvar/367853 ^@ NM_001167.3(XIAP):c.*5506T>A http://identifiers.org/clinvar/367855 ^@ NM_001167.3(XIAP):c.*5796C>T http://identifiers.org/clinvar/367856 ^@ NM_001167.3(XIAP):c.*5892T>G http://identifiers.org/clinvar/367864 ^@ NM_001167.3(XIAP):c.*6549C>T http://identifiers.org/clinvar/340585 ^@ NM_014339.6(IL17RA):c.932-10C>T http://identifiers.org/clinvar/340586 ^@ NM_014339.6(IL17RA):c.942G>A (p.Pro314=) http://identifiers.org/clinvar/340594 ^@ NM_014339.6(IL17RA):c.1188G>A (p.Leu396=) http://identifiers.org/clinvar/340598 ^@ NM_014339.6(IL17RA):c.1458C>T (p.Ile486=) http://identifiers.org/clinvar/340611 ^@ NM_014339.6(IL17RA):c.2295G>A (p.Gln765=) http://identifiers.org/clinvar/340616 ^@ NM_014339.6(IL17RA):c.*147G>C http://identifiers.org/clinvar/340617 ^@ NM_014339.6(IL17RA):c.*191C>G http://identifiers.org/clinvar/340618 ^@ NM_014339.6(IL17RA):c.*211A>G http://identifiers.org/clinvar/340619 ^@ NM_014339.6(IL17RA):c.*238G>C http://identifiers.org/clinvar/340620 ^@ NM_014339.6(IL17RA):c.*249A>C http://identifiers.org/clinvar/340625 ^@ NM_014339.6(IL17RA):c.*677_*678delCA http://identifiers.org/clinvar/367867 ^@ NM_002351.4(SH2D1A):c.-318G>C http://identifiers.org/clinvar/367873 ^@ NM_002351.4(SH2D1A):c.346+3A>G http://identifiers.org/clinvar/367876 ^@ NM_002351.4(SH2D1A):c.*212G>A http://identifiers.org/clinvar/340626 ^@ NM_014339.6(IL17RA):c.*677delC http://identifiers.org/clinvar/367880 ^@ NM_002351.4(SH2D1A):c.*860T>C http://identifiers.org/clinvar/367882 ^@ NM_002351.4(SH2D1A):c.*863T>A http://identifiers.org/clinvar/367885 ^@ NM_002351.4(SH2D1A):c.*1321A>G http://identifiers.org/clinvar/367891 ^@ NM_004208.3(AIFM1):c.366A>G (p.Glu122=) http://identifiers.org/clinvar/367892 ^@ NM_004208.3(AIFM1):c.273T>C (p.Asp91=) http://identifiers.org/clinvar/367896 ^@ NM_004208.3(AIFM1):c.-165G>A http://identifiers.org/clinvar/367904 ^@ NM_194277.2(FRMD7):c.*293G>C http://identifiers.org/clinvar/367905 ^@ NM_194277.2(FRMD7):c.*285C>T http://identifiers.org/clinvar/367911 ^@ NM_194277.2(FRMD7):c.383-11C>T http://identifiers.org/clinvar/367920 ^@ NM_004840.2(ARHGEF6):c.*2082T>G http://identifiers.org/clinvar/367922 ^@ NM_004840.2(ARHGEF6):c.*2021A>G http://identifiers.org/clinvar/367923 ^@ NM_004840.2(ARHGEF6):c.*1952A>G http://identifiers.org/clinvar/367924 ^@ NM_004840.2(ARHGEF6):c.*1828A>G http://identifiers.org/clinvar/367926 ^@ NM_004840.2(ARHGEF6):c.*1531C>T http://identifiers.org/clinvar/367938 ^@ NM_004840.2(ARHGEF6):c.*149G>A http://identifiers.org/clinvar/367943 ^@ NM_004840.2(ARHGEF6):c.1446T>C (p.Ser482=) http://identifiers.org/clinvar/367972 ^@ NM_001011658.3(TRAPPC2):c.*1191C>T http://identifiers.org/clinvar/340634 ^@ NM_014339.6(IL17RA):c.*1066C>T http://identifiers.org/clinvar/340640 ^@ NM_014339.6(IL17RA):c.*1320A>G http://identifiers.org/clinvar/340642 ^@ NM_014339.6(IL17RA):c.*1431A>G http://identifiers.org/clinvar/367976 ^@ NM_001011658.3(TRAPPC2):c.*956dupT http://identifiers.org/clinvar/367980 ^@ NM_001011658.3(TRAPPC2):c.*849C>T http://identifiers.org/clinvar/367981 ^@ NM_001011658.3(TRAPPC2):c.*830G>C http://identifiers.org/clinvar/367982 ^@ NM_001011658.3(TRAPPC2):c.*752A>G http://identifiers.org/clinvar/340643 ^@ NM_014339.6(IL17RA):c.*1480G>A http://identifiers.org/clinvar/340649 ^@ NM_014339.6(IL17RA):c.*2100A>G http://identifiers.org/clinvar/340654 ^@ NM_014339.6(IL17RA):c.*2338_*2339delAT http://identifiers.org/clinvar/340657 ^@ NM_014339.6(IL17RA):c.*2427T>C http://identifiers.org/clinvar/340658 ^@ NM_014339.6(IL17RA):c.*2512C>A http://identifiers.org/clinvar/340675 ^@ NM_014339.6(IL17RA):c.*3179_*3180insTGTT http://identifiers.org/clinvar/340676 ^@ NM_014339.6(IL17RA):c.*3179_*3180insTTGT http://identifiers.org/clinvar/340674 ^@ NM_014339.6(IL17RA):c.*3179delT http://identifiers.org/clinvar/367987 ^@ NM_001011658.3(TRAPPC2):c.*465T>G http://identifiers.org/clinvar/340682 ^@ NM_014339.6(IL17RA):c.*3187T>G http://identifiers.org/clinvar/367988 ^@ NM_001011658.3(TRAPPC2):c.*435A>G http://identifiers.org/clinvar/367992 ^@ NM_001011658.3(TRAPPC2):c.*266_*267insT http://identifiers.org/clinvar/367956 ^@ NM_003413.3(ZIC3):c.*489A>G http://identifiers.org/clinvar/367958 ^@ NM_003413.3(ZIC3):c.*1171_*1173delTTT http://identifiers.org/clinvar/368001 ^@ NM_000133.3(F9):c.658T>A (p.Ser220Thr) http://identifiers.org/clinvar/368008 ^@ NM_000133.3(F9):c.*523A>G http://identifiers.org/clinvar/368009 ^@ NM_000133.3(F9):c.*606G>A http://identifiers.org/clinvar/368014 ^@ NM_000133.3(F9):c.*858_*859delAC http://identifiers.org/clinvar/368017 ^@ NM_000133.3(F9):c.*1173_*1175delCTT http://identifiers.org/clinvar/368019 ^@ NM_001018113.2(FANCB):c.*33T>C http://identifiers.org/clinvar/368025 ^@ NM_001018113.2(FANCB):c.1310C>T (p.Thr437Met) http://identifiers.org/clinvar/340678 ^@ NM_014339.6(IL17RA):c.*3194dupT http://identifiers.org/clinvar/340684 ^@ NM_014339.6(IL17RA):c.*3265delG http://identifiers.org/clinvar/368032 ^@ NM_001018113.2(FANCB):c.402A>G (p.Leu134=) http://identifiers.org/clinvar/340686 ^@ NM_014339.6(IL17RA):c.*3506A>G http://identifiers.org/clinvar/368034 ^@ NM_001018113.2(FANCB):c.350A>C (p.Lys117Thr) http://identifiers.org/clinvar/368041 ^@ NM_000033.3(ABCD1):c.-202C>G http://identifiers.org/clinvar/340687 ^@ NM_014339.6(IL17RA):c.*3523C>T http://identifiers.org/clinvar/368044 ^@ NM_000033.3(ABCD1):c.38A>C (p.Asn13Thr) http://identifiers.org/clinvar/368054 ^@ NM_000033.3(ABCD1):c.*196C>G http://identifiers.org/clinvar/340692 ^@ NM_014339.6(IL17RA):c.*3812T>C http://identifiers.org/clinvar/340694 ^@ NM_014339.6(IL17RA):c.*3865C>T http://identifiers.org/clinvar/340698 ^@ NM_014339.6(IL17RA):c.*3969G>T http://identifiers.org/clinvar/340701 ^@ NM_014339.6(IL17RA):c.*4000T>A http://identifiers.org/clinvar/368056 ^@ NM_000033.3(ABCD1):c.*412T>C http://identifiers.org/clinvar/368058 ^@ NM_000033.3(ABCD1):c.*481G>T http://identifiers.org/clinvar/340704 ^@ NM_014339.6(IL17RA):c.*4056A>T http://identifiers.org/clinvar/340706 ^@ NM_014339.6(IL17RA):c.*4176T>C http://identifiers.org/clinvar/368060 ^@ NM_000033.3(ABCD1):c.*555_*561delGAGAGGG http://identifiers.org/clinvar/368062 ^@ NM_000033.3(ABCD1):c.*608G>A http://identifiers.org/clinvar/340708 ^@ NM_014339.6(IL17RA):c.*4267A>G http://identifiers.org/clinvar/340720 ^@ NM_014339.6(IL17RA):c.*4956G>A http://identifiers.org/clinvar/340722 ^@ NM_014339.6(IL17RA):c.*5050G>A http://identifiers.org/clinvar/340725 ^@ NM_014339.6(IL17RA):c.*5205C>A http://identifiers.org/clinvar/368064 ^@ NM_000033.3(ABCD1):c.*795C>T http://identifiers.org/clinvar/368066 ^@ NM_000033.3(ABCD1):c.*877C>T http://identifiers.org/clinvar/340728 ^@ NM_014339.6(IL17RA):c.*5270C>T http://identifiers.org/clinvar/340733 ^@ NM_014339.6(IL17RA):c.*5612A>G http://identifiers.org/clinvar/340734 ^@ NM_014339.6(IL17RA):c.*5659G>A http://identifiers.org/clinvar/340739 ^@ NM_014339.6(IL17RA):c.*5776_*5779dupAAAA http://identifiers.org/clinvar/340741 ^@ NM_014339.6(IL17RA):c.*5778A>G http://identifiers.org/clinvar/368073 ^@ NM_000054.4(AVPR2):c.174G>A (p.Val58=) http://identifiers.org/clinvar/340742 ^@ NM_014339.6(IL17RA):c.*5827G>C http://identifiers.org/clinvar/368074 ^@ NM_000054.4(AVPR2):c.189T>C (p.Ala63=) http://identifiers.org/clinvar/368075 ^@ NM_000054.4(AVPR2):c.643G>A (p.Val215Met) http://identifiers.org/clinvar/340743 ^@ NM_014339.6(IL17RA):c.*5855A>G http://identifiers.org/clinvar/340744 ^@ NM_017929.5(PEX26):c.-167C>T http://identifiers.org/clinvar/340748 ^@ NM_017929.5(PEX26):c.-115G>C http://identifiers.org/clinvar/340749 ^@ NM_017929.5(PEX26):c.-82+12A>G http://identifiers.org/clinvar/340760 ^@ NM_017929.5(PEX26):c.*133C>T http://identifiers.org/clinvar/340765 ^@ NM_017929.5(PEX26):c.*533A>C http://identifiers.org/clinvar/340772 ^@ NM_017929.5(PEX26):c.*829A>G http://identifiers.org/clinvar/340774 ^@ NM_017929.5(PEX26):c.*917C>T http://identifiers.org/clinvar/340780 ^@ NM_017929.5(PEX26):c.*987T>C http://identifiers.org/clinvar/340790 ^@ NM_017929.5(PEX26):c.*1608G>A http://identifiers.org/clinvar/340797 ^@ NM_017929.5(PEX26):c.*1684T>C http://identifiers.org/clinvar/340800 ^@ NM_017929.5(PEX26):c.*1778C>T http://identifiers.org/clinvar/368078 ^@ NM_000054.4(AVPR2):c.1113G>A (p.Ser371=) http://identifiers.org/clinvar/368079 ^@ NM_000054.4(AVPR2):c.*119G>A http://identifiers.org/clinvar/340805 ^@ NM_017929.5(PEX26):c.*2155A>G http://identifiers.org/clinvar/340808 ^@ NM_017929.5(PEX26):c.*2285C>T http://identifiers.org/clinvar/340810 ^@ NM_017929.5(PEX26):c.*2386C>G http://identifiers.org/clinvar/340811 ^@ NM_017929.5(PEX26):c.*2449C>T http://identifiers.org/clinvar/340813 ^@ NM_017929.5(PEX26):c.*2479G>A http://identifiers.org/clinvar/340814 ^@ NM_017929.5(PEX26):c.*2647G>A http://identifiers.org/clinvar/340820 ^@ NM_017929.5(PEX26):c.*2878C>T http://identifiers.org/clinvar/340821 ^@ NM_004782.3(SNAP29):c.-76G>A http://identifiers.org/clinvar/340822 ^@ NM_004782.3(SNAP29):c.-70_-69delCG http://identifiers.org/clinvar/340825 ^@ NM_004782.3(SNAP29):c.-32C>G http://identifiers.org/clinvar/368087 ^@ NM_000116.4(TAZ):c.504G>A (p.Lys168=) http://identifiers.org/clinvar/368088 ^@ NM_000116.4(TAZ):c.675G>A (p.Pro225=) http://identifiers.org/clinvar/368090 ^@ NM_000116.4(TAZ):c.*396C>T http://identifiers.org/clinvar/368098 ^@ NM_001042351.2(G6PD):c.1164C>T (p.Asn388=) http://identifiers.org/clinvar/368099 ^@ NM_001042351.2(G6PD):c.864+14C>T http://identifiers.org/clinvar/368101 ^@ NM_001042351.2(G6PD):c.582C>G (p.Asp194Glu) http://identifiers.org/clinvar/368112 ^@ NM_000132.3(F8):c.*420_*421delTC http://identifiers.org/clinvar/368113 ^@ NM_000132.3(F8):c.*78C>T http://identifiers.org/clinvar/368114 ^@ NM_000132.3(F8):c.*29C>T http://identifiers.org/clinvar/368121 ^@ NM_000132.3(F8):c.2535C>A (p.Asp845Glu) http://identifiers.org/clinvar/368125 ^@ NM_000132.3(F8):c.389-9C>T http://identifiers.org/clinvar/368126 ^@ NM_000132.3(F8):c.-157A>G http://identifiers.org/clinvar/340826 ^@ NM_004782.3(SNAP29):c.-19C>T http://identifiers.org/clinvar/368128 ^@ NM_171998.3(RAB39B):c.*1953_*1956delCAAA http://identifiers.org/clinvar/368129 ^@ NM_171998.3(RAB39B):c.*1945A>T http://identifiers.org/clinvar/340833 ^@ NM_004782.3(SNAP29):c.240G>A (p.Glu80=) http://identifiers.org/clinvar/340841 ^@ NM_004782.3(SNAP29):c.*255G>A http://identifiers.org/clinvar/340845 ^@ NM_004782.3(SNAP29):c.*517_*520dupACAC http://identifiers.org/clinvar/340851 ^@ NM_004782.3(SNAP29):c.*517_*522delACACTC http://identifiers.org/clinvar/368138 ^@ NM_171998.3(RAB39B):c.*1079A>C http://identifiers.org/clinvar/368143 ^@ NM_171998.3(RAB39B):c.*339T>C http://identifiers.org/clinvar/368146 ^@ NM_171998.3(RAB39B):c.*65A>G http://identifiers.org/clinvar/368152 ^@ NM_014332.2(SMPX):c.132G>A (p.Glu44=) http://identifiers.org/clinvar/368158 ^@ NM_000444.5(PHEX):c.81C>T (p.Val27=) http://identifiers.org/clinvar/368160 ^@ NM_000444.5(PHEX):c.285C>G (p.Pro95=) http://identifiers.org/clinvar/368162 ^@ NM_000444.5(PHEX):c.537T>A (p.Val179=) http://identifiers.org/clinvar/368163 ^@ NM_000444.5(PHEX):c.700G>A (p.Asp234Asn) http://identifiers.org/clinvar/368166 ^@ NM_000444.5(PHEX):c.1026C>T (p.Arg342=) http://identifiers.org/clinvar/368169 ^@ NM_000444.5(PHEX):c.1655C>T (p.Ala552Val) http://identifiers.org/clinvar/368179 ^@ NM_000444.5(PHEX):c.*388A>G http://identifiers.org/clinvar/368184 ^@ NM_014271.3(IL1RAPL1):c.-303_-302delTT http://identifiers.org/clinvar/340852 ^@ NM_004782.3(SNAP29):c.*519_*522delACTC http://identifiers.org/clinvar/340854 ^@ NM_004782.3(SNAP29):c.*521T>A http://identifiers.org/clinvar/340859 ^@ NM_004782.3(SNAP29):c.*840G>C http://identifiers.org/clinvar/368196 ^@ NM_014271.3(IL1RAPL1):c.1368T>A (p.Thr456=) http://identifiers.org/clinvar/340860 ^@ NM_004782.3(SNAP29):c.*1061C>T http://identifiers.org/clinvar/368197 ^@ NM_014271.3(IL1RAPL1):c.1605G>T (p.Thr535=) http://identifiers.org/clinvar/340861 ^@ NM_004782.3(SNAP29):c.*1129T>C http://identifiers.org/clinvar/368198 ^@ NM_014271.3(IL1RAPL1):c.1690A>C (p.Ile564Leu) http://identifiers.org/clinvar/340862 ^@ NM_004782.3(SNAP29):c.*1315C>G http://identifiers.org/clinvar/368202 ^@ NM_004006.2(DMD):c.*2037_*2038dupTT http://identifiers.org/clinvar/368204 ^@ NM_004006.2(DMD):c.*2031_*2034dupAATT http://identifiers.org/clinvar/368205 ^@ NM_004006.2(DMD):c.*1783A>G http://identifiers.org/clinvar/368207 ^@ NM_004006.2(DMD):c.*1731A>C http://identifiers.org/clinvar/368217 ^@ NM_004006.2(DMD):c.*1285C>A http://identifiers.org/clinvar/368222 ^@ NM_004006.2(DMD):c.*1005T>G http://identifiers.org/clinvar/368225 ^@ NM_004006.2(DMD):c.*704C>T http://identifiers.org/clinvar/368230 ^@ NM_004006.2(DMD):c.*477T>C http://identifiers.org/clinvar/368228 ^@ NM_004006.2(DMD):c.*475_*476dupCA http://identifiers.org/clinvar/368241 ^@ NM_004006.2(DMD):c.5741A>G (p.Glu1914Gly) http://identifiers.org/clinvar/340868 ^@ NM_004782.3(SNAP29):c.*1589T>C http://identifiers.org/clinvar/368247 ^@ NM_004006.2(DMD):c.3666T>C (p.Asn1222=) http://identifiers.org/clinvar/340871 ^@ NM_004782.3(SNAP29):c.*2028G>A http://identifiers.org/clinvar/340874 ^@ NM_004782.3(SNAP29):c.*2121dupT http://identifiers.org/clinvar/340877 ^@ NM_004782.3(SNAP29):c.*2168A>C http://identifiers.org/clinvar/340880 ^@ NM_004782.3(SNAP29):c.*2261G>T http://identifiers.org/clinvar/340884 ^@ NM_004782.3(SNAP29):c.*2551G>A http://identifiers.org/clinvar/340890 ^@ NM_004782.3(SNAP29):c.*2795C>T http://identifiers.org/clinvar/340908 ^@ NM_003073.4(SMARCB1):c.-117C>T http://identifiers.org/clinvar/340909 ^@ NM_003073.4(SMARCB1):c.-115C>T http://identifiers.org/clinvar/368249 ^@ NM_004006.2(DMD):c.3169A>G (p.Ile1057Val) http://identifiers.org/clinvar/340917 ^@ NM_003073.4(SMARCB1):c.*15C>A http://identifiers.org/clinvar/368251 ^@ NM_004006.2(DMD):c.1616G>A (p.Arg539Gln) http://identifiers.org/clinvar/368256 ^@ NM_000531.5(OTC):c.-48G>T http://identifiers.org/clinvar/340931 ^@ NM_016327.2(UPB1):c.354G>A (p.Gln118=) http://identifiers.org/clinvar/340940 ^@ NM_016327.2(UPB1):c.*296dupA http://identifiers.org/clinvar/368257 ^@ NM_000531.5(OTC):c.76C>T (p.Arg26Trp) http://identifiers.org/clinvar/340942 ^@ NM_016327.2(UPB1):c.*505A>G http://identifiers.org/clinvar/368258 ^@ NM_000531.5(OTC):c.216+9C>T http://identifiers.org/clinvar/368261 ^@ NM_000531.5(OTC):c.*105C>T http://identifiers.org/clinvar/368265 ^@ NM_022567.2(NYX):c.-314A>G http://identifiers.org/clinvar/368273 ^@ NM_022567.2(NYX):c.*16delG http://identifiers.org/clinvar/368275 ^@ NM_022567.2(NYX):c.*103G>A http://identifiers.org/clinvar/368290 ^@ NM_001039891.2(ZNF674):c.*1121A>T http://identifiers.org/clinvar/368292 ^@ NM_001039891.2(ZNF674):c.*769C>T http://identifiers.org/clinvar/368294 ^@ NM_001039891.2(ZNF674):c.*467A>G http://identifiers.org/clinvar/340943 ^@ NM_016327.2(UPB1):c.*552_*555delAAGT http://identifiers.org/clinvar/340944 ^@ NM_016327.2(UPB1):c.*619C>T http://identifiers.org/clinvar/340946 ^@ NM_016327.2(UPB1):c.*690T>G http://identifiers.org/clinvar/340948 ^@ NM_004076.4(CRYBB3):c.25G>A (p.Glu9Lys) http://identifiers.org/clinvar/340949 ^@ NM_004076.4(CRYBB3):c.38C>G (p.Ala13Gly) http://identifiers.org/clinvar/340954 ^@ NM_004076.4(CRYBB3):c.379C>T (p.Arg127Cys) http://identifiers.org/clinvar/368297 ^@ NM_001039891.2(ZNF674):c.74T>G (p.Leu25Arg) http://identifiers.org/clinvar/368299 ^@ NM_001039891.2(ZNF674):c.-141+15G>A http://identifiers.org/clinvar/340958 ^@ NM_004076.4(CRYBB3):c.603G>T (p.Lys201Asn) http://identifiers.org/clinvar/368301 ^@ NM_001039891.2(ZNF674):c.-149G>A http://identifiers.org/clinvar/368306 ^@ NM_006915.2(RP2):c.514A>G (p.Ser172Gly) http://identifiers.org/clinvar/368307 ^@ NM_006915.2(RP2):c.601A>G (p.Ile201Val) http://identifiers.org/clinvar/368315 ^@ NM_006915.2(RP2):c.*1081C>T http://identifiers.org/clinvar/368316 ^@ NM_006915.2(RP2):c.*1098G>A http://identifiers.org/clinvar/368317 ^@ NM_006915.2(RP2):c.*1447T>C http://identifiers.org/clinvar/368318 ^@ NM_006915.2(RP2):c.*1458G>A http://identifiers.org/clinvar/368324 ^@ NM_006915.2(RP2):c.*2085T>C http://identifiers.org/clinvar/368327 ^@ NM_003334.3(UBA1):c.-178G>A http://identifiers.org/clinvar/368328 ^@ NM_003334.3(UBA1):c.351C>T (p.Tyr117=) http://identifiers.org/clinvar/368329 ^@ NM_003334.3(UBA1):c.430G>A (p.Val144Ile) http://identifiers.org/clinvar/368331 ^@ NM_003334.3(UBA1):c.811+9C>G http://identifiers.org/clinvar/368348 ^@ NM_003334.3(UBA1):c.2928C>T (p.Leu976=) http://identifiers.org/clinvar/368349 ^@ NM_003334.3(UBA1):c.*123C>T http://identifiers.org/clinvar/368355 ^@ NM_153380.3(ZNF41):c.*407A>G http://identifiers.org/clinvar/368358 ^@ NM_153380.3(ZNF41):c.2309G>C (p.Ser770Thr) http://identifiers.org/clinvar/368359 ^@ NM_153380.3(ZNF41):c.2116C>T (p.Leu706Phe) http://identifiers.org/clinvar/368365 ^@ NM_153380.3(ZNF41):c.1323C>T (p.Cys441=) http://identifiers.org/clinvar/368373 ^@ NM_153380.3(ZNF41):c.590A>G (p.Lys197Arg) http://identifiers.org/clinvar/368380 ^@ NM_153380.3(ZNF41):c.-42G>A http://identifiers.org/clinvar/368381 ^@ NM_153380.3(ZNF41):c.-224G>A http://identifiers.org/clinvar/368382 ^@ NM_153380.3(ZNF41):c.-231A>G http://identifiers.org/clinvar/368385 ^@ NM_153380.3(ZNF41):c.-387C>T http://identifiers.org/clinvar/368386 ^@ NM_153380.3(ZNF41):c.-403G>T http://identifiers.org/clinvar/368390 ^@ NM_007137.3(ZNF81):c.130C>T (p.Arg44Cys) http://identifiers.org/clinvar/368395 ^@ NM_007137.3(ZNF81):c.1080C>T (p.Cys360=) http://identifiers.org/clinvar/368401 ^@ NM_007137.3(ZNF81):c.*176delA http://identifiers.org/clinvar/368404 ^@ NM_007137.3(ZNF81):c.*284T>C http://identifiers.org/clinvar/368406 ^@ NM_007137.3(ZNF81):c.*456T>A http://identifiers.org/clinvar/368420 ^@ NM_007137.3(ZNF81):c.*2171_*2172delGC http://identifiers.org/clinvar/340959 ^@ NM_004076.4(CRYBB3):c.*66C>G http://identifiers.org/clinvar/340967 ^@ NM_022081.5(HPS4):c.*1589C>A http://identifiers.org/clinvar/340972 ^@ NM_022081.5(HPS4):c.*1250C>T http://identifiers.org/clinvar/368421 ^@ NM_007137.3(ZNF81):c.*2191C>T http://identifiers.org/clinvar/340974 ^@ NM_022081.5(HPS4):c.*1243_*1246delCGCG http://identifiers.org/clinvar/368422 ^@ NM_007137.3(ZNF81):c.*2268delT http://identifiers.org/clinvar/340977 ^@ NM_022081.5(HPS4):c.*1239_*1246delCGCGCGCG http://identifiers.org/clinvar/340982 ^@ NM_022081.5(HPS4):c.*1236_*1237insTAA http://identifiers.org/clinvar/368428 ^@ NM_007137.3(ZNF81):c.*2851T>C http://identifiers.org/clinvar/368431 ^@ NM_007137.3(ZNF81):c.*3474T>C http://identifiers.org/clinvar/368434 ^@ NM_007137.3(ZNF81):c.*3674C>T http://identifiers.org/clinvar/368437 ^@ NM_007137.3(ZNF81):c.*4053T>G http://identifiers.org/clinvar/368439 ^@ NM_007137.3(ZNF81):c.*4105C>T http://identifiers.org/clinvar/368447 ^@ NM_007137.3(ZNF81):c.*5212A>G http://identifiers.org/clinvar/368450 ^@ NM_007137.3(ZNF81):c.*5461G>T http://identifiers.org/clinvar/368458 ^@ NM_003179.2(SYP):c.*1055C>T http://identifiers.org/clinvar/340980 ^@ NM_022081.5(HPS4):c.*1229_*1237delCGCGCGCGCinsTGTGT http://identifiers.org/clinvar/368462 ^@ NM_003179.2(SYP):c.*582G>A http://identifiers.org/clinvar/368473 ^@ NM_000084.4(CLCN5):c.206-6A>T http://identifiers.org/clinvar/368475 ^@ NM_000084.4(CLCN5):c.486G>A (p.Ala162=) http://identifiers.org/clinvar/368480 ^@ NM_000084.4(CLCN5):c.1034G>A (p.Arg345Gln) http://identifiers.org/clinvar/368485 ^@ NM_000084.4(CLCN5):c.1606G>A (p.Val536Met) http://identifiers.org/clinvar/368489 ^@ NM_000084.4(CLCN5):c.*403_*406delAACT http://identifiers.org/clinvar/368491 ^@ NM_000084.4(CLCN5):c.*504G>C http://identifiers.org/clinvar/368497 ^@ NM_000084.4(CLCN5):c.*1447T>G http://identifiers.org/clinvar/368500 ^@ NM_000084.4(CLCN5):c.*1723G>A http://identifiers.org/clinvar/340984 ^@ NM_022081.5(HPS4):c.*1231C>T http://identifiers.org/clinvar/368501 ^@ NM_000084.4(CLCN5):c.*1735T>C http://identifiers.org/clinvar/368512 ^@ NM_000084.4(CLCN5):c.*3090C>T http://identifiers.org/clinvar/340986 ^@ NM_022081.5(HPS4):c.*1227_*1228dupTG http://identifiers.org/clinvar/340987 ^@ NM_022081.5(HPS4):c.*1225_*1228delTGTG http://identifiers.org/clinvar/368514 ^@ NM_000084.4(CLCN5):c.*3409A>G http://identifiers.org/clinvar/368516 ^@ NM_000084.4(CLCN5):c.*3627C>T http://identifiers.org/clinvar/340990 ^@ NM_152841.2(HPS4):c.*1207_*1227del21insCGC http://identifiers.org/clinvar/340992 ^@ NM_022081.5(HPS4):c.*1225T>C http://identifiers.org/clinvar/340994 ^@ NM_022081.5(HPS4):c.*1024_*1028delATTGT http://identifiers.org/clinvar/340995 ^@ NM_022081.5(HPS4):c.*751G>A http://identifiers.org/clinvar/340998 ^@ NM_022081.5(HPS4):c.*369C>T http://identifiers.org/clinvar/341000 ^@ NM_022081.5(HPS4):c.1959T>C (p.Asn653=) http://identifiers.org/clinvar/341010 ^@ NM_022081.5(HPS4):c.1192A>C (p.Arg398=) http://identifiers.org/clinvar/341011 ^@ NM_022081.5(HPS4):c.958G>C (p.Asp320His) http://identifiers.org/clinvar/341017 ^@ NM_022081.5(HPS4):c.706+15G>T http://identifiers.org/clinvar/341022 ^@ NM_022081.5(HPS4):c.177A>C (p.Gly59=) http://identifiers.org/clinvar/368517 ^@ NM_000084.4(CLCN5):c.*3652T>C http://identifiers.org/clinvar/341024 ^@ NM_022081.5(HPS4):c.15C>T (p.Thr5=) http://identifiers.org/clinvar/368518 ^@ NM_000084.4(CLCN5):c.*3937C>A http://identifiers.org/clinvar/341026 ^@ NM_022081.5(HPS4):c.-116C>T http://identifiers.org/clinvar/368521 ^@ NM_000084.4(CLCN5):c.*4297A>C http://identifiers.org/clinvar/368523 ^@ NM_000084.4(CLCN5):c.*5140A>G http://identifiers.org/clinvar/341028 ^@ NM_022081.5(HPS4):c.-253C>T http://identifiers.org/clinvar/368524 ^@ NM_000084.4(CLCN5):c.*5144C>T http://identifiers.org/clinvar/368526 ^@ NM_000084.4(CLCN5):c.*5815T>C http://identifiers.org/clinvar/341030 ^@ NM_022081.5(HPS4):c.-395A>C http://identifiers.org/clinvar/341041 ^@ NM_001887.3(CRYBB1):c.*67C>G http://identifiers.org/clinvar/341044 ^@ NM_001887.3(CRYBB1):c.448A>G (p.Lys150Glu) http://identifiers.org/clinvar/341046 ^@ NM_001887.3(CRYBB1):c.394C>G (p.Arg132Gly) http://identifiers.org/clinvar/341049 ^@ NM_001887.3(CRYBB1):c.156G>A (p.Ala52=) http://identifiers.org/clinvar/341051 ^@ NM_001887.3(CRYBB1):c.-6G>A http://identifiers.org/clinvar/341053 ^@ NM_001887.3(CRYBB1):c.-58C>T http://identifiers.org/clinvar/341057 ^@ NM_007194.3(CHEK2):c.-44G>C http://identifiers.org/clinvar/368527 ^@ NM_000084.4(CLCN5):c.*5899_*5900delTT http://identifiers.org/clinvar/341064 ^@ NM_000268.3(NF2):c.-245C>G http://identifiers.org/clinvar/341066 ^@ NM_000268.3(NF2):c.-110G>C http://identifiers.org/clinvar/341067 ^@ NM_000268.3(NF2):c.240+15C>T http://identifiers.org/clinvar/341070 ^@ NM_000268.3(NF2):c.886-15C>T http://identifiers.org/clinvar/368531 ^@ NM_000084.4(CLCN5):c.*6217G>A http://identifiers.org/clinvar/368537 ^@ NM_000084.4(CLCN5):c.*6638G>A http://identifiers.org/clinvar/341075 ^@ NM_000268.3(NF2):c.*4G>A http://identifiers.org/clinvar/341076 ^@ NM_000268.3(NF2):c.*52C>A http://identifiers.org/clinvar/368538 ^@ NM_005448.2(BMP15):c.443T>C (p.Leu148Pro) http://identifiers.org/clinvar/368541 ^@ NM_005448.2(BMP15):c.1011C>T (p.His337=) http://identifiers.org/clinvar/341080 ^@ NM_000268.3(NF2):c.*158T>C http://identifiers.org/clinvar/341081 ^@ NM_000268.3(NF2):c.*199C>A http://identifiers.org/clinvar/341087 ^@ NM_000268.3(NF2):c.*388C>T http://identifiers.org/clinvar/341089 ^@ NM_000268.3(NF2):c.*532G>T http://identifiers.org/clinvar/368546 ^@ NM_006306.3(SMC1A):c.*5380G>A http://identifiers.org/clinvar/368550 ^@ NM_006306.3(SMC1A):c.*5016T>C http://identifiers.org/clinvar/341094 ^@ NM_000268.3(NF2):c.*720G>A http://identifiers.org/clinvar/341095 ^@ NM_000268.3(NF2):c.*768_*769dupAG http://identifiers.org/clinvar/341102 ^@ NM_000268.3(NF2):c.*1260dupC http://identifiers.org/clinvar/341105 ^@ NM_000268.3(NF2):c.*1264C>T http://identifiers.org/clinvar/341112 ^@ NM_000268.3(NF2):c.*1439T>C http://identifiers.org/clinvar/368556 ^@ NM_006306.3(SMC1A):c.*4087G>A http://identifiers.org/clinvar/341113 ^@ NM_000268.3(NF2):c.*1522C>A http://identifiers.org/clinvar/341116 ^@ NM_000268.3(NF2):c.*1640A>C http://identifiers.org/clinvar/368558 ^@ NM_006306.3(SMC1A):c.*3838G>A http://identifiers.org/clinvar/368569 ^@ NM_006306.3(SMC1A):c.*2589A>G http://identifiers.org/clinvar/341120 ^@ NM_000268.3(NF2):c.*1782T>C http://identifiers.org/clinvar/341124 ^@ NM_000268.3(NF2):c.*1904A>G http://identifiers.org/clinvar/341125 ^@ NM_000268.3(NF2):c.*2007dupT http://identifiers.org/clinvar/341130 ^@ NM_000268.3(NF2):c.*2020C>T http://identifiers.org/clinvar/341141 ^@ NM_000268.3(NF2):c.*2310C>T http://identifiers.org/clinvar/341142 ^@ NM_000268.3(NF2):c.*2311G>A http://identifiers.org/clinvar/341145 ^@ NM_000268.3(NF2):c.*2373C>A http://identifiers.org/clinvar/341156 ^@ NM_000268.3(NF2):c.*2841C>T http://identifiers.org/clinvar/368570 ^@ NM_006306.3(SMC1A):c.*2540C>G http://identifiers.org/clinvar/368579 ^@ NM_006306.3(SMC1A):c.*1239T>C http://identifiers.org/clinvar/341157 ^@ NM_000268.3(NF2):c.*2876T>C http://identifiers.org/clinvar/341161 ^@ NM_000268.3(NF2):c.*3055C>T http://identifiers.org/clinvar/341162 ^@ NM_000268.3(NF2):c.*3107T>G http://identifiers.org/clinvar/341165 ^@ NM_000268.3(NF2):c.*3208G>A http://identifiers.org/clinvar/368581 ^@ NM_006306.3(SMC1A):c.*821_*824delACAG http://identifiers.org/clinvar/368583 ^@ NM_006306.3(SMC1A):c.*665A>G http://identifiers.org/clinvar/341172 ^@ NM_000268.3(NF2):c.*3575G>A http://identifiers.org/clinvar/341173 ^@ NM_000268.3(NF2):c.*3603A>C http://identifiers.org/clinvar/368584 ^@ NM_006306.3(SMC1A):c.*626A>G http://identifiers.org/clinvar/368593 ^@ NM_000032.4(ALAS2):c.1335C>T (p.Ala445=) http://identifiers.org/clinvar/341176 ^@ NM_000268.3(NF2):c.*3670C>T http://identifiers.org/clinvar/341181 ^@ NM_000355.3(TCN2):c.-191G>A http://identifiers.org/clinvar/341183 ^@ NM_000355.3(TCN2):c.-181A>G http://identifiers.org/clinvar/341189 ^@ NM_000355.3(TCN2):c.138C>T (p.Ser46=) http://identifiers.org/clinvar/368610 ^@ NM_013444.3(UBQLN2):c.*16T>C http://identifiers.org/clinvar/368614 ^@ NM_013444.3(UBQLN2):c.*1258C>T http://identifiers.org/clinvar/341195 ^@ NM_000355.3(TCN2):c.459C>T (p.Ser153=) http://identifiers.org/clinvar/341197 ^@ NM_000355.3(TCN2):c.509G>A (p.Arg170Gln) http://identifiers.org/clinvar/341198 ^@ NM_000355.3(TCN2):c.554C>T (p.Pro185Leu) http://identifiers.org/clinvar/368617 ^@ NM_000206.2(IL2RG):c.858G>A (p.Thr286=) http://identifiers.org/clinvar/368620 ^@ NM_000206.2(IL2RG):c.167C>T (p.Pro56Leu) http://identifiers.org/clinvar/341201 ^@ NM_000355.3(TCN2):c.644G>A (p.Arg215Gln) http://identifiers.org/clinvar/341203 ^@ NM_000355.3(TCN2):c.840T>C (p.Asp280=) http://identifiers.org/clinvar/341205 ^@ NM_000355.3(TCN2):c.903C>T (p.Tyr301=) http://identifiers.org/clinvar/341208 ^@ NM_000355.3(TCN2):c.998C>T (p.Thr333Met) http://identifiers.org/clinvar/341214 ^@ NM_000355.3(TCN2):c.1127T>C (p.Leu376Ser) http://identifiers.org/clinvar/341225 ^@ NM_000355.3(TCN2):c.*382C>T http://identifiers.org/clinvar/341229 ^@ NM_000343.3(SLC5A1):c.-60C>T http://identifiers.org/clinvar/341241 ^@ NM_000343.3(SLC5A1):c.624G>A (p.Thr208=) http://identifiers.org/clinvar/341243 ^@ NM_000343.3(SLC5A1):c.813G>A (p.Thr271=) http://identifiers.org/clinvar/341247 ^@ NM_000343.3(SLC5A1):c.1092C>T (p.Ile364=) http://identifiers.org/clinvar/341248 ^@ NM_000343.3(SLC5A1):c.1126A>G (p.Asn376Asp) http://identifiers.org/clinvar/341255 ^@ NM_000343.3(SLC5A1):c.1450G>A (p.Gly484Arg) http://identifiers.org/clinvar/341263 ^@ NM_000343.3(SLC5A1):c.1845C>G (p.His615Gln) http://identifiers.org/clinvar/341264 ^@ NM_000343.3(SLC5A1):c.1846G>A (p.Gly616Ser) http://identifiers.org/clinvar/341266 ^@ NM_000343.3(SLC5A1):c.1915C>T (p.Pro639Ser) http://identifiers.org/clinvar/341270 ^@ NM_000343.3(SLC5A1):c.*400C>T http://identifiers.org/clinvar/341274 ^@ NM_000343.3(SLC5A1):c.*703C>T http://identifiers.org/clinvar/341275 ^@ NM_000343.3(SLC5A1):c.*706C>T http://identifiers.org/clinvar/368621 ^@ NM_000206.2(IL2RG):c.92A>G (p.Asn31Ser) http://identifiers.org/clinvar/368627 ^@ NM_000166.5(GJB1):c.*34C>A http://identifiers.org/clinvar/341282 ^@ NM_000343.3(SLC5A1):c.*1237A>G http://identifiers.org/clinvar/341284 ^@ NM_000343.3(SLC5A1):c.*1312A>G http://identifiers.org/clinvar/341289 ^@ NM_000343.3(SLC5A1):c.*1559C>T http://identifiers.org/clinvar/341292 ^@ NM_000343.3(SLC5A1):c.*1804T>C http://identifiers.org/clinvar/341293 ^@ NM_000343.3(SLC5A1):c.*1940G>A http://identifiers.org/clinvar/341294 ^@ NM_000343.3(SLC5A1):c.*2132C>A http://identifiers.org/clinvar/341295 ^@ NM_000343.3(SLC5A1):c.*2245C>T http://identifiers.org/clinvar/341299 ^@ NM_012179.3(FBXO7):c.-221C>T http://identifiers.org/clinvar/341304 ^@ NM_012179.3(FBXO7):c.-118T>G http://identifiers.org/clinvar/341312 ^@ NM_012179.3(FBXO7):c.693C>T (p.Ser231=) http://identifiers.org/clinvar/341315 ^@ NM_012179.3(FBXO7):c.1054G>A (p.Val352Ile) http://identifiers.org/clinvar/368629 ^@ NM_000166.5(GJB1):c.*163G>T http://identifiers.org/clinvar/368630 ^@ NM_002637.3(PHKA1):c.*1865G>T http://identifiers.org/clinvar/368632 ^@ NM_002637.3(PHKA1):c.*1275A>G http://identifiers.org/clinvar/368634 ^@ NM_002637.3(PHKA1):c.*1261_*1264dupGTGT http://identifiers.org/clinvar/341319 ^@ NM_012179.3(FBXO7):c.1527C>A (p.Pro509=) http://identifiers.org/clinvar/368637 ^@ NM_002637.3(PHKA1):c.*674A>C http://identifiers.org/clinvar/368643 ^@ NM_002637.3(PHKA1):c.3523A>G (p.Met1175Val) http://identifiers.org/clinvar/368646 ^@ NM_002637.3(PHKA1):c.3364G>C (p.Glu1122Gln) http://identifiers.org/clinvar/368647 ^@ NM_002637.3(PHKA1):c.2112C>T (p.Thr704=) http://identifiers.org/clinvar/368650 ^@ NM_002637.3(PHKA1):c.864+11A>G http://identifiers.org/clinvar/368651 ^@ NM_002637.3(PHKA1):c.718-12C>A http://identifiers.org/clinvar/341321 ^@ NM_012179.3(FBXO7):c.*170C>G http://identifiers.org/clinvar/341323 ^@ NM_012179.3(FBXO7):c.*282A>T http://identifiers.org/clinvar/341324 ^@ NM_012179.3(FBXO7):c.*301A>G http://identifiers.org/clinvar/341328 ^@ NM_000362.4(TIMP3):c.-914A>G http://identifiers.org/clinvar/341340 ^@ NM_000362.4(TIMP3):c.-117G>A http://identifiers.org/clinvar/341343 ^@ NM_000362.4(TIMP3):c.261C>T (p.Ser87=) http://identifiers.org/clinvar/341348 ^@ NM_000362.4(TIMP3):c.587G>A (p.Arg196Gln) http://identifiers.org/clinvar/341350 ^@ NM_000362.4(TIMP3):c.*105C>A http://identifiers.org/clinvar/368652 ^@ NM_002637.3(PHKA1):c.492C>T (p.Phe164=) http://identifiers.org/clinvar/341352 ^@ NM_000362.4(TIMP3):c.*506G>A http://identifiers.org/clinvar/341357 ^@ NM_000362.4(TIMP3):c.*795A>G http://identifiers.org/clinvar/368653 ^@ NM_002637.3(PHKA1):c.478G>A (p.Asp160Asn) http://identifiers.org/clinvar/368654 ^@ NM_002637.3(PHKA1):c.-229G>A http://identifiers.org/clinvar/368662 ^@ NM_001109878.1(TBX22):c.-23A>G http://identifiers.org/clinvar/368676 ^@ NM_001109878.1(TBX22):c.*533A>T http://identifiers.org/clinvar/368678 ^@ NM_153252.4(BRWD3):c.*6902G>A http://identifiers.org/clinvar/368679 ^@ NM_153252.4(BRWD3):c.*6871G>T http://identifiers.org/clinvar/368690 ^@ NM_153252.4(BRWD3):c.*5481A>C http://identifiers.org/clinvar/368693 ^@ NM_153252.4(BRWD3):c.*5264G>T http://identifiers.org/clinvar/368695 ^@ NM_153252.4(BRWD3):c.*4809T>G http://identifiers.org/clinvar/368696 ^@ NM_153252.4(BRWD3):c.*4581C>T http://identifiers.org/clinvar/368706 ^@ NM_153252.4(BRWD3):c.*2744A>G http://identifiers.org/clinvar/368712 ^@ NM_153252.4(BRWD3):c.*2154A>G http://identifiers.org/clinvar/368719 ^@ NM_153252.4(BRWD3):c.*1036A>C http://identifiers.org/clinvar/368733 ^@ NM_000307.4(POU3F4):c.*41C>A http://identifiers.org/clinvar/368736 ^@ NM_000307.4(POU3F4):c.*192T>C http://identifiers.org/clinvar/368740 ^@ NM_021998.4(ZNF711):c.-190delAinsGGCGGCGGCG http://identifiers.org/clinvar/368743 ^@ NM_021998.4(ZNF711):c.-91G>T http://identifiers.org/clinvar/368745 ^@ NM_021998.4(ZNF711):c.1230G>A (p.Met410Ile) http://identifiers.org/clinvar/368750 ^@ NM_021998.4(ZNF711):c.*122G>T http://identifiers.org/clinvar/368754 ^@ NM_021998.4(ZNF711):c.*540T>C http://identifiers.org/clinvar/368760 ^@ NM_024921.3(POF1B):c.*1808A>G http://identifiers.org/clinvar/368766 ^@ NM_024921.3(POF1B):c.*1112G>A http://identifiers.org/clinvar/368767 ^@ NM_024921.3(POF1B):c.*1019C>A http://identifiers.org/clinvar/368774 ^@ NM_024921.3(POF1B):c.*368G>T http://identifiers.org/clinvar/368777 ^@ NM_024921.3(POF1B):c.*268T>G http://identifiers.org/clinvar/368779 ^@ NM_024921.3(POF1B):c.*44_*45insG http://identifiers.org/clinvar/368781 ^@ NM_024921.3(POF1B):c.*42T>G http://identifiers.org/clinvar/368783 ^@ NM_024921.3(POF1B):c.1572C>G (p.Leu524=) http://identifiers.org/clinvar/368787 ^@ NM_024921.3(POF1B):c.1045A>T (p.Met349Leu) http://identifiers.org/clinvar/368791 ^@ NM_024921.3(POF1B):c.113A>C (p.Gln38Pro) http://identifiers.org/clinvar/341358 ^@ NM_000362.4(TIMP3):c.*930T>C http://identifiers.org/clinvar/341359 ^@ NM_000362.4(TIMP3):c.*990G>A http://identifiers.org/clinvar/341367 ^@ NM_000362.4(TIMP3):c.*1554delG http://identifiers.org/clinvar/341379 ^@ NM_000362.4(TIMP3):c.*2017_*2019dupAAG http://identifiers.org/clinvar/341380 ^@ NM_000362.4(TIMP3):c.*2033G>T http://identifiers.org/clinvar/341382 ^@ NM_000362.4(TIMP3):c.*2122C>G http://identifiers.org/clinvar/341387 ^@ NM_000362.4(TIMP3):c.*2356C>T http://identifiers.org/clinvar/341395 ^@ NM_000362.4(TIMP3):c.*2817T>C http://identifiers.org/clinvar/341398 ^@ NM_000362.4(TIMP3):c.*2853G>A http://identifiers.org/clinvar/341400 ^@ NM_000362.4(TIMP3):c.*3010G>A http://identifiers.org/clinvar/341402 ^@ NM_000362.4(TIMP3):c.*3084T>C http://identifiers.org/clinvar/341404 ^@ NM_000362.4(TIMP3):c.*3157T>C http://identifiers.org/clinvar/341410 ^@ NM_000362.4(TIMP3):c.*3652delT http://identifiers.org/clinvar/341412 ^@ NM_004737.5(LARGE1):c.*1201A>G http://identifiers.org/clinvar/341418 ^@ NM_004737.5(LARGE1):c.*823_*824dupTA http://identifiers.org/clinvar/341424 ^@ NM_004737.5(LARGE1):c.*501T>C http://identifiers.org/clinvar/341428 ^@ NM_004737.5(LARGE1):c.*207G>A http://identifiers.org/clinvar/341430 ^@ NM_004737.5(LARGE1):c.*100C>A http://identifiers.org/clinvar/341432 ^@ NM_004737.5(LARGE1):c.2073+11C>T http://identifiers.org/clinvar/341434 ^@ NM_004737.5(LARGE1):c.1287C>T (p.Asn429=) http://identifiers.org/clinvar/341444 ^@ NM_004737.5(LARGE1):c.-240C>T http://identifiers.org/clinvar/341445 ^@ NM_004737.5(LARGE1):c.-305C>T http://identifiers.org/clinvar/341446 ^@ NM_004737.5(LARGE1):c.-310T>G http://identifiers.org/clinvar/341465 ^@ NM_002473.5(MYH9):c.*978A>G http://identifiers.org/clinvar/341467 ^@ NM_002473.5(MYH9):c.*906G>T http://identifiers.org/clinvar/341470 ^@ NM_002473.5(MYH9):c.*748A>G http://identifiers.org/clinvar/341474 ^@ NM_002473.5(MYH9):c.*645C>G http://identifiers.org/clinvar/341482 ^@ NM_002473.5(MYH9):c.*238G>T http://identifiers.org/clinvar/341485 ^@ NM_002473.5(MYH9):c.*137C>A http://identifiers.org/clinvar/341487 ^@ NM_002473.5(MYH9):c.*107A>G http://identifiers.org/clinvar/341499 ^@ NM_002473.5(MYH9):c.4654G>A (p.Glu1552Lys) http://identifiers.org/clinvar/341504 ^@ NM_002473.5(MYH9):c.4345-11C>G http://identifiers.org/clinvar/341515 ^@ NM_002473.5(MYH9):c.3371G>A (p.Arg1124His) http://identifiers.org/clinvar/341518 ^@ NM_002473.5(MYH9):c.2632-8_2632-6delGTT http://identifiers.org/clinvar/341521 ^@ NM_002473.5(MYH9):c.2295C>T (p.Ala765=) http://identifiers.org/clinvar/341522 ^@ NM_002473.5(MYH9):c.2230-11C>A http://identifiers.org/clinvar/341523 ^@ NM_002473.5(MYH9):c.2226C>T (p.Leu742=) http://identifiers.org/clinvar/341527 ^@ NM_002473.5(MYH9):c.1479G>A (p.Gln493=) http://identifiers.org/clinvar/341528 ^@ NM_002473.5(MYH9):c.1188G>A (p.Val396=) http://identifiers.org/clinvar/341532 ^@ NM_002473.5(MYH9):c.585G>A (p.Ala195=) http://identifiers.org/clinvar/341533 ^@ NM_002473.5(MYH9):c.519-10delC http://identifiers.org/clinvar/341534 ^@ NM_002473.5(MYH9):c.420C>T (p.Gly140=) http://identifiers.org/clinvar/341535 ^@ NM_002473.5(MYH9):c.318C>T (p.Tyr106=) http://identifiers.org/clinvar/341536 ^@ NM_002473.5(MYH9):c.233C>T (p.Pro78Leu) http://identifiers.org/clinvar/341539 ^@ NM_002473.5(MYH9):c.-153C>T http://identifiers.org/clinvar/341546 ^@ NM_013416.3(NCF4):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/341549 ^@ NM_013416.3(NCF4):c.180C>T (p.Arg60=) http://identifiers.org/clinvar/341554 ^@ NM_013416.3(NCF4):c.478G>A (p.Val160Met) http://identifiers.org/clinvar/341555 ^@ NM_013416.3(NCF4):c.647C>T (p.Thr216Met) http://identifiers.org/clinvar/341557 ^@ NM_013416.3(NCF4):c.733T>C (p.Tyr245His) http://identifiers.org/clinvar/341560 ^@ NM_013416.3(NCF4):c.*121G>A http://identifiers.org/clinvar/341561 ^@ NM_013416.3(NCF4):c.*132G>T http://identifiers.org/clinvar/341564 ^@ NM_013416.3(NCF4):c.*209G>A http://identifiers.org/clinvar/341565 ^@ NM_013416.3(NCF4):c.*241T>C http://identifiers.org/clinvar/341569 ^@ NM_153609.3(TMPRSS6):c.*576C>A http://identifiers.org/clinvar/341574 ^@ NM_153609.3(TMPRSS6):c.*140C>T http://identifiers.org/clinvar/341576 ^@ NM_153609.3(TMPRSS6):c.*35T>C http://identifiers.org/clinvar/341577 ^@ NM_153609.3(TMPRSS6):c.2346C>T (p.Ser782=) http://identifiers.org/clinvar/341578 ^@ NM_153609.3(TMPRSS6):c.2154C>T (p.Asn718=) http://identifiers.org/clinvar/341582 ^@ NM_153609.3(TMPRSS6):c.1663C>T (p.Pro555Ser) http://identifiers.org/clinvar/341583 ^@ NM_153609.3(TMPRSS6):c.1654G>A (p.Asp552Asn) http://identifiers.org/clinvar/341584 ^@ NM_153609.3(TMPRSS6):c.1520C>T (p.Pro507Leu) http://identifiers.org/clinvar/341589 ^@ NM_153609.3(TMPRSS6):c.1224-4C>G http://identifiers.org/clinvar/341591 ^@ NM_153609.3(TMPRSS6):c.1019C>T (p.Thr340Met) http://identifiers.org/clinvar/341594 ^@ NM_153609.3(TMPRSS6):c.865G>T (p.Val289Leu) http://identifiers.org/clinvar/341595 ^@ NM_153609.3(TMPRSS6):c.863C>T (p.Ser288Leu) http://identifiers.org/clinvar/341598 ^@ NM_153609.3(TMPRSS6):c.616+9T>C http://identifiers.org/clinvar/341603 ^@ NM_153609.3(TMPRSS6):c.270C>A (p.Gly90=) http://identifiers.org/clinvar/341606 ^@ NM_153609.3(TMPRSS6):c.-113T>C http://identifiers.org/clinvar/341613 ^@ NM_006941.3(SOX10):c.*537G>C http://identifiers.org/clinvar/341614 ^@ NM_006941.3(SOX10):c.*475G>A http://identifiers.org/clinvar/341615 ^@ NM_006941.3(SOX10):c.*158A>G http://identifiers.org/clinvar/341616 ^@ NM_006941.3(SOX10):c.906G>A (p.Pro302=) http://identifiers.org/clinvar/341617 ^@ NM_006941.3(SOX10):c.753G>A (p.Ser251=) http://identifiers.org/clinvar/341623 ^@ NM_006941.3(SOX10):c.-63A>G http://identifiers.org/clinvar/341625 ^@ NM_003560.2(PLA2G6):c.*565C>G http://identifiers.org/clinvar/341626 ^@ NM_003560.2(PLA2G6):c.*548C>G http://identifiers.org/clinvar/341630 ^@ NM_003560.2(PLA2G6):c.*301G>A http://identifiers.org/clinvar/341635 ^@ NM_003560.2(PLA2G6):c.2035G>A (p.Gly679Ser) http://identifiers.org/clinvar/341636 ^@ NM_003560.2(PLA2G6):c.1945C>T (p.Arg649Cys) http://identifiers.org/clinvar/341638 ^@ NM_003560.2(PLA2G6):c.1531C>G (p.Leu511Val) http://identifiers.org/clinvar/341639 ^@ NM_003560.2(PLA2G6):c.1414G>A (p.Asp472Asn) http://identifiers.org/clinvar/341640 ^@ NM_003560.2(PLA2G6):c.1267G>A (p.Ala423Thr) http://identifiers.org/clinvar/341642 ^@ NM_003560.2(PLA2G6):c.995G>C (p.Cys332Ser) http://identifiers.org/clinvar/341643 ^@ NM_003560.2(PLA2G6):c.990C>T (p.Phe330=) http://identifiers.org/clinvar/341644 ^@ NM_003560.2(PLA2G6):c.895-11G>A http://identifiers.org/clinvar/341650 ^@ NM_003560.2(PLA2G6):c.91G>A (p.Asp31Asn) http://identifiers.org/clinvar/341654 ^@ NM_003560.2(PLA2G6):c.-129C>T http://identifiers.org/clinvar/341658 ^@ NM_000026.3(ADSL):c.1106T>C (p.Ile369Thr) http://identifiers.org/clinvar/341662 ^@ NM_000026.3(ADSL):c.*45A>T http://identifiers.org/clinvar/341665 ^@ NM_022098.3(XPNPEP3):c.-23C>T http://identifiers.org/clinvar/341666 ^@ NM_022098.3(XPNPEP3):c.63A>G (p.Ser21=) http://identifiers.org/clinvar/341667 ^@ NM_022098.3(XPNPEP3):c.111A>G (p.Pro37=) http://identifiers.org/clinvar/341672 ^@ NM_022098.3(XPNPEP3):c.1055+15G>A http://identifiers.org/clinvar/341674 ^@ NM_022098.3(XPNPEP3):c.1140C>T (p.Ser380=) http://identifiers.org/clinvar/341678 ^@ NM_022098.3(XPNPEP3):c.1503G>A (p.Gln501=) http://identifiers.org/clinvar/341679 ^@ NM_022098.3(XPNPEP3):c.*85G>T http://identifiers.org/clinvar/341681 ^@ NM_022098.3(XPNPEP3):c.*419A>T http://identifiers.org/clinvar/341683 ^@ NM_022098.3(XPNPEP3):c.*531T>G http://identifiers.org/clinvar/341684 ^@ NM_022098.3(XPNPEP3):c.*635C>T http://identifiers.org/clinvar/341687 ^@ NM_022098.3(XPNPEP3):c.*809C>A http://identifiers.org/clinvar/341693 ^@ NM_022098.3(XPNPEP3):c.*1241_*1242insA http://identifiers.org/clinvar/341696 ^@ NM_022098.3(XPNPEP3):c.*1265C>T http://identifiers.org/clinvar/341700 ^@ NM_022098.3(XPNPEP3):c.*1458G>A http://identifiers.org/clinvar/341703 ^@ NM_022098.3(XPNPEP3):c.*1763delC http://identifiers.org/clinvar/341704 ^@ NM_022098.3(XPNPEP3):c.*1765dupT http://identifiers.org/clinvar/341708 ^@ NM_022098.3(XPNPEP3):c.*2011A>G http://identifiers.org/clinvar/341710 ^@ NM_022098.3(XPNPEP3):c.*2536C>G http://identifiers.org/clinvar/341715 ^@ NM_022098.3(XPNPEP3):c.*2757_*2761delCTTTT http://identifiers.org/clinvar/341717 ^@ NM_022098.3(XPNPEP3):c.*2762T>C http://identifiers.org/clinvar/341718 ^@ NM_022098.3(XPNPEP3):c.*2768T>C http://identifiers.org/clinvar/341724 ^@ NM_022098.3(XPNPEP3):c.*2958G>A http://identifiers.org/clinvar/341727 ^@ NM_022098.3(XPNPEP3):c.*3046G>A http://identifiers.org/clinvar/341734 ^@ NM_022098.3(XPNPEP3):c.*3411T>C http://identifiers.org/clinvar/341736 ^@ NM_022098.3(XPNPEP3):c.*3673delT http://identifiers.org/clinvar/341735 ^@ NM_022098.3(XPNPEP3):c.*3673dupT http://identifiers.org/clinvar/341741 ^@ NM_022098.3(XPNPEP3):c.*4216C>T http://identifiers.org/clinvar/341744 ^@ NM_022098.3(XPNPEP3):c.*4362C>G http://identifiers.org/clinvar/341746 ^@ NM_022098.3(XPNPEP3):c.*4586G>A http://identifiers.org/clinvar/341754 ^@ NM_022098.3(XPNPEP3):c.*5508T>G http://identifiers.org/clinvar/341755 ^@ NM_022098.3(XPNPEP3):c.*5631C>T http://identifiers.org/clinvar/341764 ^@ NM_001429.3(EP300):c.-363A>C http://identifiers.org/clinvar/341766 ^@ NM_001429.3(EP300):c.-237C>T http://identifiers.org/clinvar/341770 ^@ NM_001429.3(EP300):c.-139A>G http://identifiers.org/clinvar/341779 ^@ NM_001429.3(EP300):c.615G>A (p.Met205Ile) http://identifiers.org/clinvar/341789 ^@ NM_001429.3(EP300):c.1784C>T (p.Pro595Leu) http://identifiers.org/clinvar/341790 ^@ NM_001429.3(EP300):c.1990A>G (p.Met664Val) http://identifiers.org/clinvar/341795 ^@ NM_001429.3(EP300):c.2536C>T (p.Pro846Ser) http://identifiers.org/clinvar/341826 ^@ NM_001429.3(EP300):c.6798_6800delGCA (p.Gln2268del) http://identifiers.org/clinvar/341827 ^@ NM_001429.3(EP300):c.6912C>T (p.Ser2304=) http://identifiers.org/clinvar/341830 ^@ NM_001429.3(EP300):c.6984C>A (p.Ser2328=) http://identifiers.org/clinvar/341831 ^@ NM_001429.3(EP300):c.7017C>T (p.His2339=) http://identifiers.org/clinvar/341832 ^@ NM_001429.3(EP300):c.7136A>G (p.Asn2379Ser) http://identifiers.org/clinvar/341834 ^@ NM_001429.3(EP300):c.*52C>G http://identifiers.org/clinvar/341846 ^@ NM_001429.3(EP300):c.*745delG http://identifiers.org/clinvar/341850 ^@ NM_001429.3(EP300):c.*844G>A http://identifiers.org/clinvar/341859 ^@ NM_001429.3(EP300):c.*922A>C http://identifiers.org/clinvar/341861 ^@ NM_001429.3(EP300):c.*924T>C http://identifiers.org/clinvar/341869 ^@ NM_001429.3(EP300):c.*932A>C http://identifiers.org/clinvar/341865 ^@ NM_001429.3(EP300):c.*962_*967delACACAC http://identifiers.org/clinvar/341873 ^@ NM_001429.3(EP300):c.*1083_*1085delCTT http://identifiers.org/clinvar/341881 ^@ NM_052945.3(TNFRSF13C):c.192C>T (p.Gly64=) http://identifiers.org/clinvar/341895 ^@ NM_000262.2(NAGA):c.*1035G>A http://identifiers.org/clinvar/341897 ^@ NM_000262.2(NAGA):c.*555C>T http://identifiers.org/clinvar/341899 ^@ NM_000262.2(NAGA):c.*176C>G http://identifiers.org/clinvar/341906 ^@ NM_000262.2(NAGA):c.957+4C>G http://identifiers.org/clinvar/341910 ^@ NM_000262.2(NAGA):c.549C>T (p.Ile183=) http://identifiers.org/clinvar/341912 ^@ NM_000262.2(NAGA):c.280G>A (p.Asp94Asn) http://identifiers.org/clinvar/341915 ^@ NM_000262.2(NAGA):c.19C>T (p.Leu7Phe) http://identifiers.org/clinvar/341917 ^@ NM_000262.2(NAGA):c.-208G>C http://identifiers.org/clinvar/341918 ^@ NM_000262.2(NAGA):c.-306C>A http://identifiers.org/clinvar/341925 ^@ NM_025225.2(PNPLA3):c.-40C>G http://identifiers.org/clinvar/341931 ^@ NM_025225.2(PNPLA3):c.414C>T (p.Val138=) http://identifiers.org/clinvar/341932 ^@ NM_025225.2(PNPLA3):c.444C>G (p.Ile148Met) http://identifiers.org/clinvar/341933 ^@ NM_025225.2(PNPLA3):c.447C>T (p.Pro149=) http://identifiers.org/clinvar/341951 ^@ NM_025225.2(PNPLA3):c.*141T>G http://identifiers.org/clinvar/341955 ^@ NM_025225.2(PNPLA3):c.*707T>C http://identifiers.org/clinvar/341959 ^@ NM_025225.2(PNPLA3):c.*989dupA http://identifiers.org/clinvar/341963 ^@ NM_025225.2(PNPLA3):c.*1068C>T http://identifiers.org/clinvar/341967 ^@ NM_006953.3(UPK3A):c.-26C>G http://identifiers.org/clinvar/341971 ^@ NM_006953.3(UPK3A):c.259T>G (p.Ser87Ala) http://identifiers.org/clinvar/341983 ^@ NM_006953.3(UPK3A):c.588G>A (p.Thr196=) http://identifiers.org/clinvar/341985 ^@ NM_006953.3(UPK3A):c.731C>T (p.Thr244Met) http://identifiers.org/clinvar/341986 ^@ NM_006953.3(UPK3A):c.802T>C (p.Ser268Pro) http://identifiers.org/clinvar/341989 ^@ NM_006953.3(UPK3A):c.*42C>T http://identifiers.org/clinvar/341993 ^@ NM_018006.4(TRMU):c.-190A>T http://identifiers.org/clinvar/341995 ^@ NM_018006.4(TRMU):c.-161A>C http://identifiers.org/clinvar/341996 ^@ NM_018006.4(TRMU):c.-151G>A http://identifiers.org/clinvar/342001 ^@ NM_018006.4(TRMU):c.-87T>C http://identifiers.org/clinvar/342004 ^@ NM_018006.4(TRMU):c.-19G>C http://identifiers.org/clinvar/342005 ^@ NM_018006.4(TRMU):c.-15T>C http://identifiers.org/clinvar/342006 ^@ NM_018006.4(TRMU):c.271A>G (p.Lys91Glu) http://identifiers.org/clinvar/342010 ^@ NM_018006.4(TRMU):c.873+11C>T http://identifiers.org/clinvar/342011 ^@ NM_018006.4(TRMU):c.879C>T (p.Pro293=) http://identifiers.org/clinvar/342021 ^@ NM_018006.4(TRMU):c.*51C>T http://identifiers.org/clinvar/342022 ^@ NM_018006.4(TRMU):c.*113G>A http://identifiers.org/clinvar/342023 ^@ NM_018006.4(TRMU):c.*124G>C http://identifiers.org/clinvar/342031 ^@ NM_024105.3(ALG12):c.*475G>A http://identifiers.org/clinvar/342036 ^@ NM_024105.3(ALG12):c.*240G>A http://identifiers.org/clinvar/342042 ^@ NM_024105.3(ALG12):c.1362C>T (p.Val454=) http://identifiers.org/clinvar/342045 ^@ NM_024105.3(ALG12):c.1029G>A (p.Ala343=) http://identifiers.org/clinvar/342046 ^@ NM_024105.3(ALG12):c.933C>T (p.Arg311=) http://identifiers.org/clinvar/342052 ^@ NM_024105.3(ALG12):c.493C>T (p.Leu165=) http://identifiers.org/clinvar/342053 ^@ NM_024105.3(ALG12):c.470-11C>T http://identifiers.org/clinvar/342056 ^@ NM_024105.3(ALG12):c.401C>T (p.Thr134Met) http://identifiers.org/clinvar/342057 ^@ NM_024105.3(ALG12):c.359G>A (p.Arg120Gln) http://identifiers.org/clinvar/342059 ^@ NM_024105.3(ALG12):c.319G>A (p.Val107Met) http://identifiers.org/clinvar/342065 ^@ NM_024105.3(ALG12):c.-79+3C>T http://identifiers.org/clinvar/342068 ^@ NM_024105.3(ALG12):c.-203G>A http://identifiers.org/clinvar/342070 ^@ NM_015166.3(MLC1):c.*2167G>A http://identifiers.org/clinvar/342079 ^@ NM_015166.3(MLC1):c.*1623G>T http://identifiers.org/clinvar/342082 ^@ NM_015166.3(MLC1):c.*1368dupA http://identifiers.org/clinvar/342086 ^@ NM_015166.3(MLC1):c.*1127C>T http://identifiers.org/clinvar/342089 ^@ NM_015166.3(MLC1):c.*937C>T http://identifiers.org/clinvar/342090 ^@ NM_015166.3(MLC1):c.*824A>G http://identifiers.org/clinvar/342091 ^@ NM_015166.3(MLC1):c.*806C>A http://identifiers.org/clinvar/342098 ^@ NM_015166.3(MLC1):c.*430A>G http://identifiers.org/clinvar/342104 ^@ NM_015166.3(MLC1):c.772-13G>A http://identifiers.org/clinvar/342109 ^@ NM_015166.3(MLC1):c.74C>G (p.Pro25Arg) http://identifiers.org/clinvar/342111 ^@ NM_015166.3(MLC1):c.-100A>G http://identifiers.org/clinvar/342112 ^@ NM_015166.3(MLC1):c.-110G>A http://identifiers.org/clinvar/342113 ^@ NM_015166.3(MLC1):c.-156C>T http://identifiers.org/clinvar/342116 ^@ NM_015166.3(MLC1):c.-414G>A http://identifiers.org/clinvar/342117 ^@ NM_015166.3(MLC1):c.-455G>C http://identifiers.org/clinvar/342127 ^@ NM_005138.2(SCO2):c.162C>T (p.Gly54=) http://identifiers.org/clinvar/342134 ^@ NM_001169109.1(SCO2):c.-14+646G>C http://identifiers.org/clinvar/342136 ^@ NM_001169109.1(SCO2):c.-14+470G>A http://identifiers.org/clinvar/342140 ^@ NM_001169109.1(SCO2):c.-129G>A http://identifiers.org/clinvar/342144 ^@ NM_001953.4(TYMP):c.859G>A (p.Val287Met) http://identifiers.org/clinvar/342147 ^@ NM_001953.4(TYMP):c.756A>C (p.Ala252=) http://identifiers.org/clinvar/342152 ^@ NM_001953.4(TYMP):c.516+10G>A http://identifiers.org/clinvar/342158 ^@ NM_001953.4(TYMP):c.-92C>T http://identifiers.org/clinvar/342162 ^@ NM_005198.4(CHKB):c.*134T>C http://identifiers.org/clinvar/342163 ^@ NM_005198.4(CHKB):c.*126C>T http://identifiers.org/clinvar/342177 ^@ NM_005198.4(CHKB):c.149A>G (p.Tyr50Cys) http://identifiers.org/clinvar/342178 ^@ NM_005198.4(CHKB):c.-19G>T http://identifiers.org/clinvar/342180 ^@ NM_005198.4(CHKB):c.-48G>T http://identifiers.org/clinvar/342186 ^@ NM_000487.5(ARSA):c.*2259G>A http://identifiers.org/clinvar/342191 ^@ NM_000487.5(ARSA):c.*1769A>G http://identifiers.org/clinvar/342193 ^@ NM_000487.5(ARSA):c.*1629A>C http://identifiers.org/clinvar/342196 ^@ NM_000487.5(ARSA):c.*1576A>C http://identifiers.org/clinvar/342200 ^@ NM_000487.5(ARSA):c.*1475C>G http://identifiers.org/clinvar/342206 ^@ NM_000487.5(ARSA):c.*1267C>T http://identifiers.org/clinvar/342208 ^@ NM_000487.5(ARSA):c.*1213T>G http://identifiers.org/clinvar/342212 ^@ NM_000487.5(ARSA):c.*1062dupA http://identifiers.org/clinvar/342214 ^@ NM_000487.5(ARSA):c.*919A>G http://identifiers.org/clinvar/342215 ^@ NM_000487.5(ARSA):c.*874T>C http://identifiers.org/clinvar/342222 ^@ NM_000487.5(ARSA):c.*643T>C http://identifiers.org/clinvar/342230 ^@ NM_000487.5(ARSA):c.*191C>G http://identifiers.org/clinvar/342232 ^@ NM_000487.5(ARSA):c.*125C>G http://identifiers.org/clinvar/342236 ^@ NM_000487.5(ARSA):c.663C>T (p.Phe221=) http://identifiers.org/clinvar/342241 ^@ NM_000487.5(ARSA):c.-20G>C http://identifiers.org/clinvar/342243 ^@ NM_000487.5(ARSA):c.-131G>A http://identifiers.org/clinvar/342246 ^@ NM_000487.5(ARSA):c.-159C>T http://identifiers.org/clinvar/367694 ^@ NM_000061.2(BTK):c.*116A>C http://identifiers.org/clinvar/367703 ^@ NM_002764.3(PRPS1):c.*88C>T http://identifiers.org/clinvar/367704 ^@ NM_002764.3(PRPS1):c.*159G>A http://identifiers.org/clinvar/367709 ^@ NM_002764.3(PRPS1):c.*538G>T http://identifiers.org/clinvar/367714 ^@ NM_002578.4(PAK3):c.483A>G (p.Ala161=) http://identifiers.org/clinvar/367717 ^@ NM_002578.4(PAK3):c.665C>A (p.Pro222Gln) http://identifiers.org/clinvar/367720 ^@ NM_002578.4(PAK3):c.*452delA http://identifiers.org/clinvar/367724 ^@ NM_080632.2(UPF3B):c.*650A>G http://identifiers.org/clinvar/367726 ^@ NM_080632.2(UPF3B):c.*439A>G http://identifiers.org/clinvar/367741 ^@ NM_002294.2(LAMP2):c.*4763A>T http://identifiers.org/clinvar/367754 ^@ NM_002294.2(LAMP2):c.*2538A>C http://identifiers.org/clinvar/367765 ^@ NM_002294.2(LAMP2):c.*2005C>G http://identifiers.org/clinvar/367766 ^@ NM_002294.2(LAMP2):c.*1701dupT http://identifiers.org/clinvar/367775 ^@ NM_002294.2(LAMP2):c.*1071G>T http://identifiers.org/clinvar/367777 ^@ NM_002294.2(LAMP2):c.*721A>C http://identifiers.org/clinvar/367780 ^@ NM_002294.2(LAMP2):c.*586A>G http://identifiers.org/clinvar/367786 ^@ NM_002294.2(LAMP2):c.1048C>G (p.Leu350Val) http://identifiers.org/clinvar/367795 ^@ NM_001167.3(XIAP):c.1100A>G (p.Asp367Gly) http://identifiers.org/clinvar/367796 ^@ NM_001167.3(XIAP):c.*12A>G http://identifiers.org/clinvar/367805 ^@ NM_001167.3(XIAP):c.*1393G>A http://identifiers.org/clinvar/367806 ^@ NM_001167.3(XIAP):c.*1676T>C http://identifiers.org/clinvar/367811 ^@ NM_001167.3(XIAP):c.*2521A>G http://identifiers.org/clinvar/367813 ^@ NM_001167.3(XIAP):c.*2674A>C http://identifiers.org/clinvar/367815 ^@ NM_001167.3(XIAP):c.*2729C>G http://identifiers.org/clinvar/367819 ^@ NM_001167.3(XIAP):c.*3040G>A http://identifiers.org/clinvar/367825 ^@ NM_001167.3(XIAP):c.*3642T>G http://identifiers.org/clinvar/367830 ^@ NM_001167.3(XIAP):c.*4024C>T http://identifiers.org/clinvar/367833 ^@ NM_001167.3(XIAP):c.*4188T>C http://identifiers.org/clinvar/367836 ^@ NM_001167.3(XIAP):c.*4380G>A http://identifiers.org/clinvar/367840 ^@ NM_001167.3(XIAP):c.*5034_*5035insAAA http://identifiers.org/clinvar/367842 ^@ NM_001167.3(XIAP):c.*5047delA http://identifiers.org/clinvar/367843 ^@ NM_001167.3(XIAP):c.*5070delA http://identifiers.org/clinvar/367847 ^@ NM_001167.3(XIAP):c.*5180delA http://identifiers.org/clinvar/367848 ^@ NM_001167.3(XIAP):c.*5241A>T http://identifiers.org/clinvar/367851 ^@ NM_001167.3(XIAP):c.*5505delG http://identifiers.org/clinvar/367865 ^@ NM_001167.3(XIAP):c.*6572_*6575delCTGA http://identifiers.org/clinvar/367866 ^@ NM_002351.4(SH2D1A):c.-346C>T http://identifiers.org/clinvar/367868 ^@ NM_002351.4(SH2D1A):c.-247G>A http://identifiers.org/clinvar/367871 ^@ NM_002351.4(SH2D1A):c.48C>A (p.Gly16=) http://identifiers.org/clinvar/367872 ^@ NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) http://identifiers.org/clinvar/367878 ^@ NM_002351.4(SH2D1A):c.*647G>A http://identifiers.org/clinvar/367889 ^@ NM_004208.3(AIFM1):c.1647A>G (p.Ala549=) http://identifiers.org/clinvar/367893 ^@ NM_004208.3(AIFM1):c.262A>G (p.Met88Val) http://identifiers.org/clinvar/367903 ^@ NM_194277.2(FRMD7):c.*434C>T http://identifiers.org/clinvar/367907 ^@ NM_194277.2(FRMD7):c.1643A>C (p.Gln548Pro) http://identifiers.org/clinvar/367914 ^@ NM_194277.2(FRMD7):c.-100G>T http://identifiers.org/clinvar/367916 ^@ NM_004840.2(ARHGEF6):c.*2469C>T http://identifiers.org/clinvar/367918 ^@ NM_004840.2(ARHGEF6):c.*2346C>T http://identifiers.org/clinvar/367931 ^@ NM_004840.2(ARHGEF6):c.*595C>T http://identifiers.org/clinvar/367932 ^@ NM_004840.2(ARHGEF6):c.*545C>T http://identifiers.org/clinvar/367934 ^@ NM_004840.2(ARHGEF6):c.*200_*202delGTT http://identifiers.org/clinvar/367935 ^@ NM_004840.2(ARHGEF6):c.*179C>T http://identifiers.org/clinvar/367936 ^@ NM_004840.2(ARHGEF6):c.*176G>A http://identifiers.org/clinvar/367939 ^@ NM_004840.2(ARHGEF6):c.*131_*134delTCTT http://identifiers.org/clinvar/367940 ^@ NM_004840.2(ARHGEF6):c.*121_*124delTCTC http://identifiers.org/clinvar/367941 ^@ NM_004840.2(ARHGEF6):c.*87T>C http://identifiers.org/clinvar/367946 ^@ NM_004840.2(ARHGEF6):c.183A>G (p.Gln61=) http://identifiers.org/clinvar/367965 ^@ NM_001011658.3(TRAPPC2):c.*2060G>A http://identifiers.org/clinvar/367966 ^@ NM_001011658.3(TRAPPC2):c.*2035C>T http://identifiers.org/clinvar/367971 ^@ NM_001011658.3(TRAPPC2):c.*1229C>T http://identifiers.org/clinvar/367973 ^@ NM_001011658.3(TRAPPC2):c.*1052T>C http://identifiers.org/clinvar/367977 ^@ NM_001011658.3(TRAPPC2):c.*950_*956dupTTTTTTT http://identifiers.org/clinvar/367983 ^@ NM_001011658.3(TRAPPC2):c.*710T>C http://identifiers.org/clinvar/367984 ^@ NM_001011658.3(TRAPPC2):c.*703G>A http://identifiers.org/clinvar/367994 ^@ NM_001011658.3(TRAPPC2):c.*243G>T http://identifiers.org/clinvar/367995 ^@ NM_001011658.3(TRAPPC2):c.*179A>T http://identifiers.org/clinvar/367955 ^@ NM_003413.3(ZIC3):c.*41A>G http://identifiers.org/clinvar/367957 ^@ NM_003413.3(ZIC3):c.*798_*802delTTTGT http://identifiers.org/clinvar/367962 ^@ NM_003413.3(ZIC3):c.*1715A>G http://identifiers.org/clinvar/368000 ^@ NM_000133.3(F9):c.485G>A (p.Arg162Gln) http://identifiers.org/clinvar/368010 ^@ NM_000133.3(F9):c.*687G>A http://identifiers.org/clinvar/368013 ^@ NM_000133.3(F9):c.*836_*837delGT http://identifiers.org/clinvar/368018 ^@ NM_001018113.2(FANCB):c.*66T>G http://identifiers.org/clinvar/368020 ^@ NM_001018113.2(FANCB):c.*14T>C http://identifiers.org/clinvar/368022 ^@ NM_001018113.2(FANCB):c.2311A>G (p.Ser771Gly) http://identifiers.org/clinvar/368026 ^@ NM_001018113.2(FANCB):c.1265C>T (p.Ser422Phe) http://identifiers.org/clinvar/368029 ^@ NM_001018113.2(FANCB):c.914C>A (p.Ser305Tyr) http://identifiers.org/clinvar/368031 ^@ NM_001018113.2(FANCB):c.782G>A (p.Arg261Gln) http://identifiers.org/clinvar/368036 ^@ NM_001018113.2(FANCB):c.-173G>C http://identifiers.org/clinvar/368043 ^@ NM_000033.3(ABCD1):c.-10C>T http://identifiers.org/clinvar/368045 ^@ NM_000033.3(ABCD1):c.258C>T (p.Val86=) http://identifiers.org/clinvar/368049 ^@ NM_000033.3(ABCD1):c.1428C>T (p.Cys476=) http://identifiers.org/clinvar/368053 ^@ NM_000033.3(ABCD1):c.*123C>T http://identifiers.org/clinvar/368057 ^@ NM_000033.3(ABCD1):c.*473C>T http://identifiers.org/clinvar/368070 ^@ NM_000054.4(AVPR2):c.-48G>C http://identifiers.org/clinvar/368076 ^@ NM_000054.4(AVPR2):c.754C>T (p.Arg252Trp) http://identifiers.org/clinvar/368077 ^@ NM_000054.4(AVPR2):c.1055G>A (p.Gly352Asp) http://identifiers.org/clinvar/368086 ^@ NM_000116.4(TAZ):c.-88G>C http://identifiers.org/clinvar/368089 ^@ NM_000116.4(TAZ):c.*387C>T http://identifiers.org/clinvar/368091 ^@ NM_000116.4(TAZ):c.*470C= http://identifiers.org/clinvar/368094 ^@ NM_001042351.2(G6PD):c.*520G>A http://identifiers.org/clinvar/368096 ^@ NM_001042351.2(G6PD):c.*357G= http://identifiers.org/clinvar/368097 ^@ NM_001042351.2(G6PD):c.*25C>T http://identifiers.org/clinvar/368102 ^@ NM_001042351.2(G6PD):c.485+13G>A http://identifiers.org/clinvar/368103 ^@ NM_001042351.2(G6PD):c.120+7A>C http://identifiers.org/clinvar/368106 ^@ NM_000132.3(F8):c.*1416G>T http://identifiers.org/clinvar/368107 ^@ NM_000132.3(F8):c.*1214G>A http://identifiers.org/clinvar/368110 ^@ NM_000132.3(F8):c.*862A>G http://identifiers.org/clinvar/368115 ^@ NM_000132.3(F8):c.6957G>A (p.Pro2319=) http://identifiers.org/clinvar/368119 ^@ NM_000132.3(F8):c.2994T>G (p.His998Gln) http://identifiers.org/clinvar/368120 ^@ NM_000132.3(F8):c.2947G>A (p.Val983Ile) http://identifiers.org/clinvar/368131 ^@ NM_171998.3(RAB39B):c.*1813C>A http://identifiers.org/clinvar/368132 ^@ NM_171998.3(RAB39B):c.*1728A>G http://identifiers.org/clinvar/368141 ^@ NM_171998.3(RAB39B):c.*659_*660insATA http://identifiers.org/clinvar/368147 ^@ NM_171998.3(RAB39B):c.273T>C (p.Ile91=) http://identifiers.org/clinvar/368155 ^@ NM_000444.5(PHEX):c.-90A>G http://identifiers.org/clinvar/368159 ^@ NM_000444.5(PHEX):c.118+7G>T http://identifiers.org/clinvar/368164 ^@ NM_000444.5(PHEX):c.957G>A (p.Lys319=) http://identifiers.org/clinvar/368165 ^@ NM_000444.5(PHEX):c.1025G>A (p.Arg342His) http://identifiers.org/clinvar/368167 ^@ NM_000444.5(PHEX):c.1206A>G (p.Gln402=) http://identifiers.org/clinvar/368168 ^@ NM_000444.5(PHEX):c.1374T>C (p.Asp458=) http://identifiers.org/clinvar/368170 ^@ NM_000444.5(PHEX):c.1966-11T>C http://identifiers.org/clinvar/368175 ^@ NM_000444.5(PHEX):c.*250A>C http://identifiers.org/clinvar/368176 ^@ NM_000444.5(PHEX):c.*339A>G http://identifiers.org/clinvar/368177 ^@ NM_000444.5(PHEX):c.*360A>C http://identifiers.org/clinvar/368183 ^@ NM_014271.3(IL1RAPL1):c.-302delT http://identifiers.org/clinvar/368182 ^@ NM_014271.3(IL1RAPL1):c.-302dupT http://identifiers.org/clinvar/368186 ^@ NM_014271.3(IL1RAPL1):c.-39G>A http://identifiers.org/clinvar/368187 ^@ NM_014271.3(IL1RAPL1):c.-20C>T http://identifiers.org/clinvar/368188 ^@ NM_014271.3(IL1RAPL1):c.12G>A (p.Pro4=) http://identifiers.org/clinvar/368189 ^@ NM_014271.3(IL1RAPL1):c.36C>T (p.Tyr12=) http://identifiers.org/clinvar/368193 ^@ NM_014271.3(IL1RAPL1):c.726C>A (p.Pro242=) http://identifiers.org/clinvar/368194 ^@ NM_014271.3(IL1RAPL1):c.1089C>T (p.Gly363=) http://identifiers.org/clinvar/368210 ^@ NM_004006.2(DMD):c.*1562_*1565dupTAAG http://identifiers.org/clinvar/368211 ^@ NM_004006.2(DMD):c.*1455C>A http://identifiers.org/clinvar/368215 ^@ NM_004006.2(DMD):c.*1349T>G http://identifiers.org/clinvar/368216 ^@ NM_004006.2(DMD):c.*1339G>C http://identifiers.org/clinvar/368223 ^@ NM_004006.2(DMD):c.*952_*956dupAAGTA http://identifiers.org/clinvar/368224 ^@ NM_004006.2(DMD):c.*807_*810dupGTCA http://identifiers.org/clinvar/368227 ^@ NM_004006.2(DMD):c.*491_*492delCA http://identifiers.org/clinvar/368232 ^@ NM_004006.2(DMD):c.*192G>A http://identifiers.org/clinvar/368234 ^@ NM_004006.2(DMD):c.9324T>G (p.Thr3108=) http://identifiers.org/clinvar/368236 ^@ NM_004006.2(DMD):c.8509G>A (p.Asp2837Asn) http://identifiers.org/clinvar/368238 ^@ NM_004006.2(DMD):c.6455T>C (p.Ile2152Thr) http://identifiers.org/clinvar/368239 ^@ NM_004006.2(DMD):c.5964C>T (p.Asp1988=) http://identifiers.org/clinvar/368242 ^@ NM_004006.2(DMD):c.5361C>T (p.Asn1787=) http://identifiers.org/clinvar/368246 ^@ NM_004006.2(DMD):c.3921+12A>G http://identifiers.org/clinvar/368250 ^@ NM_004006.2(DMD):c.2939G>A (p.Gly980Glu) http://identifiers.org/clinvar/368264 ^@ NM_022567.2(NYX):c.-328T>C http://identifiers.org/clinvar/368266 ^@ NM_022567.2(NYX):c.-279T>C http://identifiers.org/clinvar/368267 ^@ NM_022567.2(NYX):c.-86T>G http://identifiers.org/clinvar/368268 ^@ NM_022567.2(NYX):c.843G>A (p.Glu281=) http://identifiers.org/clinvar/368271 ^@ NM_022567.2(NYX):c.1227C>T (p.Thr409=) http://identifiers.org/clinvar/368278 ^@ NM_022567.2(NYX):c.*509G>C http://identifiers.org/clinvar/368282 ^@ NM_001039891.2(ZNF674):c.*1934_*1935delGT http://identifiers.org/clinvar/368283 ^@ NM_001039891.2(ZNF674):c.*1722G>A http://identifiers.org/clinvar/368287 ^@ NM_001039891.2(ZNF674):c.*1232C>T http://identifiers.org/clinvar/368288 ^@ NM_001039891.2(ZNF674):c.*1161G>A http://identifiers.org/clinvar/368289 ^@ NM_001039891.2(ZNF674):c.*1120_*1121delTA http://identifiers.org/clinvar/368291 ^@ NM_001039891.2(ZNF674):c.*866G>C http://identifiers.org/clinvar/368295 ^@ NM_001039891.2(ZNF674):c.1693A>C (p.Lys565Gln) http://identifiers.org/clinvar/368296 ^@ NM_001039891.2(ZNF674):c.425G>T (p.Arg142Ile) http://identifiers.org/clinvar/368300 ^@ NM_001039891.2(ZNF674):c.-149G>C http://identifiers.org/clinvar/368302 ^@ NM_006915.2(RP2):c.-97C>T http://identifiers.org/clinvar/368310 ^@ NM_006915.2(RP2):c.*435C>T http://identifiers.org/clinvar/368312 ^@ NM_006915.2(RP2):c.*828G>A http://identifiers.org/clinvar/368319 ^@ NM_006915.2(RP2):c.*1696_*1697insGTATTA http://identifiers.org/clinvar/368322 ^@ NM_006915.2(RP2):c.*1926G>A http://identifiers.org/clinvar/368325 ^@ NM_006915.2(RP2):c.*2156A>G http://identifiers.org/clinvar/368326 ^@ NM_006915.2(RP2):c.*2163T>C http://identifiers.org/clinvar/368330 ^@ NM_003334.3(UBA1):c.720C>T (p.His240=) http://identifiers.org/clinvar/368332 ^@ NM_003334.3(UBA1):c.909+12G>A http://identifiers.org/clinvar/368344 ^@ NM_003334.3(UBA1):c.2364C>T (p.Ala788=) http://identifiers.org/clinvar/368351 ^@ NM_153380.3(ZNF41):c.*982A>C http://identifiers.org/clinvar/368353 ^@ NM_153380.3(ZNF41):c.*469C>T http://identifiers.org/clinvar/368354 ^@ NM_153380.3(ZNF41):c.*416A>T http://identifiers.org/clinvar/368360 ^@ NM_153380.3(ZNF41):c.2114G>A (p.Arg705His) http://identifiers.org/clinvar/368362 ^@ NM_153380.3(ZNF41):c.1700A>G (p.Lys567Arg) http://identifiers.org/clinvar/368363 ^@ NM_153380.3(ZNF41):c.1578T>A (p.Ala526=) http://identifiers.org/clinvar/368367 ^@ NM_153380.3(ZNF41):c.901T>C (p.Cys301Arg) http://identifiers.org/clinvar/368370 ^@ NM_153380.3(ZNF41):c.743A>G (p.Tyr248Cys) http://identifiers.org/clinvar/368377 ^@ NM_153380.3(ZNF41):c.160G>C (p.Asp54His) http://identifiers.org/clinvar/368379 ^@ NM_153380.3(ZNF41):c.65C>T (p.Ser22Leu) http://identifiers.org/clinvar/368384 ^@ NM_153380.3(ZNF41):c.-295_-294insGCGCGCACGC http://identifiers.org/clinvar/368389 ^@ NM_007137.3(ZNF81):c.-116A>G http://identifiers.org/clinvar/368392 ^@ NM_007137.3(ZNF81):c.229G>A (p.Glu77Lys) http://identifiers.org/clinvar/368393 ^@ NM_007137.3(ZNF81):c.277+10T>C http://identifiers.org/clinvar/368398 ^@ NM_007137.3(ZNF81):c.*3G>A http://identifiers.org/clinvar/368403 ^@ NM_007137.3(ZNF81):c.*277T>C http://identifiers.org/clinvar/368408 ^@ NM_007137.3(ZNF81):c.*630A>G http://identifiers.org/clinvar/368410 ^@ NM_007137.3(ZNF81):c.*720A>G http://identifiers.org/clinvar/368415 ^@ NM_007137.3(ZNF81):c.*1170G>T http://identifiers.org/clinvar/368426 ^@ NM_007137.3(ZNF81):c.*2656T>C http://identifiers.org/clinvar/368433 ^@ NM_007137.3(ZNF81):c.*3640A>G http://identifiers.org/clinvar/368435 ^@ NM_007137.3(ZNF81):c.*3879C>G http://identifiers.org/clinvar/368440 ^@ NM_007137.3(ZNF81):c.*4164A>G http://identifiers.org/clinvar/368443 ^@ NM_007137.3(ZNF81):c.*4715C>G http://identifiers.org/clinvar/368445 ^@ NM_007137.3(ZNF81):c.*5062A>G http://identifiers.org/clinvar/368448 ^@ NM_007137.3(ZNF81):c.*5311G>A http://identifiers.org/clinvar/368455 ^@ NM_003179.2(SYP):c.*1169C>T http://identifiers.org/clinvar/368456 ^@ NM_003179.2(SYP):c.*1131G>A http://identifiers.org/clinvar/368466 ^@ NM_003179.2(SYP):c.777C>T (p.Pro259=) http://identifiers.org/clinvar/368467 ^@ NM_003179.2(SYP):c.312C>T (p.Ala104=) http://identifiers.org/clinvar/368470 ^@ NM_000084.4(CLCN5):c.-230G>A http://identifiers.org/clinvar/368472 ^@ NM_000084.4(CLCN5):c.-178C>T http://identifiers.org/clinvar/368476 ^@ NM_000084.4(CLCN5):c.609A= (p.Ser203=) http://identifiers.org/clinvar/368481 ^@ NM_000084.4(CLCN5):c.1041A>G (p.Arg347=) http://identifiers.org/clinvar/368482 ^@ NM_000084.4(CLCN5):c.1212G>A (p.Glu404=) http://identifiers.org/clinvar/368490 ^@ NM_000084.4(CLCN5):c.*477G>A http://identifiers.org/clinvar/368492 ^@ NM_000084.4(CLCN5):c.*559A>G http://identifiers.org/clinvar/368494 ^@ NM_000084.4(CLCN5):c.*969A>C http://identifiers.org/clinvar/368496 ^@ NM_000084.4(CLCN5):c.*1292C>T http://identifiers.org/clinvar/368499 ^@ NM_000084.4(CLCN5):c.*1564_*1567delGTTA http://identifiers.org/clinvar/368503 ^@ NM_000084.4(CLCN5):c.*2270A>G http://identifiers.org/clinvar/368506 ^@ NM_000084.4(CLCN5):c.*2460G>A http://identifiers.org/clinvar/368507 ^@ NM_000084.4(CLCN5):c.*2479G>A http://identifiers.org/clinvar/368509 ^@ NM_000084.4(CLCN5):c.*2860T>C http://identifiers.org/clinvar/368528 ^@ NM_000084.4(CLCN5):c.*5895T>A http://identifiers.org/clinvar/368539 ^@ NM_005448.2(BMP15):c.581T>C (p.Phe194Ser) http://identifiers.org/clinvar/368545 ^@ NM_006306.3(SMC1A):c.*5444G>A http://identifiers.org/clinvar/368547 ^@ NM_006306.3(SMC1A):c.*5355G>A http://identifiers.org/clinvar/368551 ^@ NM_006306.3(SMC1A):c.*4952_*4953delAC http://identifiers.org/clinvar/368557 ^@ NM_006306.3(SMC1A):c.*3851A>T http://identifiers.org/clinvar/368563 ^@ NM_006306.3(SMC1A):c.*3305A>G http://identifiers.org/clinvar/368565 ^@ NM_006306.3(SMC1A):c.*2948G>T http://identifiers.org/clinvar/368566 ^@ NM_006306.3(SMC1A):c.*2856A>T http://identifiers.org/clinvar/368567 ^@ NM_006306.3(SMC1A):c.*2663C>T http://identifiers.org/clinvar/368571 ^@ NM_006306.3(SMC1A):c.*2490T>C http://identifiers.org/clinvar/368580 ^@ NM_006306.3(SMC1A):c.*1028C>T http://identifiers.org/clinvar/368585 ^@ NM_006306.3(SMC1A):c.*381A>G http://identifiers.org/clinvar/368589 ^@ NM_006306.3(SMC1A):c.1173G>A (p.Gln391=) http://identifiers.org/clinvar/368590 ^@ NM_000032.4(ALAS2):c.*56A>C http://identifiers.org/clinvar/368592 ^@ NM_000032.4(ALAS2):c.1567C>T (p.His523Tyr) http://identifiers.org/clinvar/368599 ^@ NM_000032.4(ALAS2):c.652C>T (p.Arg218Cys) http://identifiers.org/clinvar/368602 ^@ NM_000032.4(ALAS2):c.-111G>A http://identifiers.org/clinvar/368604 ^@ NM_013444.3(UBQLN2):c.-271G>C http://identifiers.org/clinvar/368608 ^@ NM_013444.3(UBQLN2):c.1170C>T (p.Pro390=) http://identifiers.org/clinvar/368611 ^@ NM_013444.3(UBQLN2):c.*41G>T http://identifiers.org/clinvar/368612 ^@ NM_013444.3(UBQLN2):c.*881A>G http://identifiers.org/clinvar/368616 ^@ NM_000206.2(IL2RG):c.*133G>A http://identifiers.org/clinvar/368618 ^@ NM_000206.2(IL2RG):c.595-7C>T http://identifiers.org/clinvar/368619 ^@ NM_000206.2(IL2RG):c.325G>A (p.Glu109Lys) http://identifiers.org/clinvar/368624 ^@ NM_000166.5(GJB1):c.-6G>A http://identifiers.org/clinvar/368625 ^@ NM_000166.5(GJB1):c.463C>A (p.Leu155Met) http://identifiers.org/clinvar/368626 ^@ NM_000166.5(GJB1):c.507C>T (p.Asp169=) http://identifiers.org/clinvar/368635 ^@ NM_002637.3(PHKA1):c.*1263_*1264delGT http://identifiers.org/clinvar/368642 ^@ NM_002637.3(PHKA1):c.3669A>G (p.Gln1223=) http://identifiers.org/clinvar/368655 ^@ NM_004299.4(ABCB7):c.1938+5G>C http://identifiers.org/clinvar/368659 ^@ NM_004299.4(ABCB7):c.168+13T>C http://identifiers.org/clinvar/368660 ^@ NM_001109878.1(TBX22):c.-103G>A http://identifiers.org/clinvar/368661 ^@ NM_001109878.1(TBX22):c.-28G>A http://identifiers.org/clinvar/368667 ^@ NM_001109878.1(TBX22):c.798+11T>C http://identifiers.org/clinvar/368670 ^@ NM_001109878.1(TBX22):c.1412C>T (p.Ser471Phe) http://identifiers.org/clinvar/368674 ^@ NM_001109878.1(TBX22):c.*97C>A http://identifiers.org/clinvar/368680 ^@ NM_153252.4(BRWD3):c.*6862T>C http://identifiers.org/clinvar/368683 ^@ NM_153252.4(BRWD3):c.*6248A>G http://identifiers.org/clinvar/368686 ^@ NM_153252.4(BRWD3):c.*6025dupT http://identifiers.org/clinvar/368689 ^@ NM_153252.4(BRWD3):c.*5514T>C http://identifiers.org/clinvar/368691 ^@ NM_153252.4(BRWD3):c.*5461T>G http://identifiers.org/clinvar/368697 ^@ NM_153252.4(BRWD3):c.*4272C>T http://identifiers.org/clinvar/368698 ^@ NM_153252.4(BRWD3):c.*4223C>T http://identifiers.org/clinvar/368707 ^@ NM_153252.4(BRWD3):c.*2710G>A http://identifiers.org/clinvar/368710 ^@ NM_153252.4(BRWD3):c.*2329A>T http://identifiers.org/clinvar/368713 ^@ NM_153252.4(BRWD3):c.*1992G>A http://identifiers.org/clinvar/368724 ^@ NM_153252.4(BRWD3):c.4263C>T (p.Ala1421=) http://identifiers.org/clinvar/368728 ^@ NM_153252.4(BRWD3):c.814-8T>A http://identifiers.org/clinvar/368731 ^@ NM_153252.4(BRWD3):c.-251_-250delTC http://identifiers.org/clinvar/368734 ^@ NM_000307.4(POU3F4):c.*105C>T http://identifiers.org/clinvar/368737 ^@ NM_000307.4(POU3F4):c.*242_*246delCTTCC http://identifiers.org/clinvar/368739 ^@ NM_021998.4(ZNF711):c.-196_-191dupGGCGGC http://identifiers.org/clinvar/368738 ^@ NM_021998.4(ZNF711):c.-193_-191dupGGC http://identifiers.org/clinvar/368742 ^@ NM_021998.4(ZNF711):c.-180dupG http://identifiers.org/clinvar/368744 ^@ NM_021998.4(ZNF711):c.-57T>A http://identifiers.org/clinvar/368746 ^@ NM_021998.4(ZNF711):c.1968A>G (p.Thr656=) http://identifiers.org/clinvar/368749 ^@ NM_021998.4(ZNF711):c.*118C>T http://identifiers.org/clinvar/368753 ^@ NM_021998.4(ZNF711):c.*272G>A http://identifiers.org/clinvar/368756 ^@ NM_021998.4(ZNF711):c.*763G>A http://identifiers.org/clinvar/368758 ^@ NM_021998.4(ZNF711):c.*1411G>A http://identifiers.org/clinvar/368759 ^@ NM_024921.3(POF1B):c.*1849G>A http://identifiers.org/clinvar/368761 ^@ NM_024921.3(POF1B):c.*1686G>T http://identifiers.org/clinvar/368762 ^@ NM_024921.3(POF1B):c.*1626G>A http://identifiers.org/clinvar/368763 ^@ NM_024921.3(POF1B):c.*1431A>C http://identifiers.org/clinvar/368764 ^@ NM_024921.3(POF1B):c.*1380T>G http://identifiers.org/clinvar/368769 ^@ NM_024921.3(POF1B):c.*775G>T http://identifiers.org/clinvar/368770 ^@ NM_024921.3(POF1B):c.*755G>A http://identifiers.org/clinvar/368771 ^@ NM_024921.3(POF1B):c.*669T>C http://identifiers.org/clinvar/368775 ^@ NM_024921.3(POF1B):c.*352A>G http://identifiers.org/clinvar/368776 ^@ NM_024921.3(POF1B):c.*312A>C http://identifiers.org/clinvar/368778 ^@ NM_024921.3(POF1B):c.*132T>C http://identifiers.org/clinvar/368788 ^@ NM_024921.3(POF1B):c.716G>C (p.Cys239Ser) http://identifiers.org/clinvar/368793 ^@ NM_015074.3(KIF1B):c.-260C>T http://identifiers.org/clinvar/368794 ^@ NM_015074.3(KIF1B):c.*5019T>C http://identifiers.org/clinvar/368798 ^@ NG_008734.1:g.19080G>A http://identifiers.org/clinvar/368801 ^@ NM_013319.2(UBIAD1):c.-337C>T http://identifiers.org/clinvar/368802 ^@ NM_013319.2(UBIAD1):c.*2305C>T http://identifiers.org/clinvar/368821 ^@ NC_000001.11:g.115701098C>T http://identifiers.org/clinvar/368823 ^@ NM_006623.3(PHGDH):c.*200A>G http://identifiers.org/clinvar/368828 ^@ NM_005266.6(GJA5):c.-152G= http://identifiers.org/clinvar/368829 ^@ NM_005266.6(GJA5):c.-175G>A http://identifiers.org/clinvar/368830 ^@ NM_005267.4(GJA8):c.*10dupA http://identifiers.org/clinvar/368831 ^@ NM_005267.4(GJA8):c.*14dupA http://identifiers.org/clinvar/368832 ^@ NM_019032.5(ADAMTSL4):c.*753T>A http://identifiers.org/clinvar/368833 ^@ NM_005572.3(LMNA):c.*103C>T http://identifiers.org/clinvar/368834 ^@ NM_001193301.1(SEMA4A):c.-29-1031C>T http://identifiers.org/clinvar/368835 ^@ NM_007272.2(CTRC):c.*83T>C http://identifiers.org/clinvar/368836 ^@ NM_002857.3(PEX19):c.-41C>T http://identifiers.org/clinvar/368837 ^@ NM_003001.3(SDHC):c.-38G>A http://identifiers.org/clinvar/368838 ^@ NM_003001.3(SDHC):c.-32T>C http://identifiers.org/clinvar/368840 ^@ NM_003001.3(SDHC):c.*2311delA http://identifiers.org/clinvar/368841 ^@ NM_002065.6(GLUL):c.-899T>C http://identifiers.org/clinvar/368842 ^@ NM_000069.2(CACNA1S):c.-231A>G http://identifiers.org/clinvar/368859 ^@ NM_000228.2(LAMB3):c.*403A>G http://identifiers.org/clinvar/368860 ^@ NM_000228.2(LAMB3):c.*402C>T http://identifiers.org/clinvar/368864 ^@ NM_006147.3(IRF6):c.-313T>A http://identifiers.org/clinvar/368865 ^@ NM_014053.3(FLVCR1):c.*4085_*4086delTT http://identifiers.org/clinvar/368866 ^@ NM_000447.2(PSEN2):c.*536G>A http://identifiers.org/clinvar/368867 ^@ NM_020247.4(COQ8A):c.*815C>T http://identifiers.org/clinvar/368868 ^@ NM_000029.3(AGT):c.*629C>T http://identifiers.org/clinvar/368871 ^@ NM_000191.2(HMGCL):c.-59A>C http://identifiers.org/clinvar/368872 ^@ NM_000147.4(FUCA1):c.-86T>G http://identifiers.org/clinvar/368873 ^@ NM_017837.3(PIGV):c.-370G>A http://identifiers.org/clinvar/368874 ^@ NM_000374.4(UROD):c.-134T>G http://identifiers.org/clinvar/368875 ^@ NM_000098.2(CPT2):c.*607G>T http://identifiers.org/clinvar/368876 ^@ NM_000098.2(CPT2):c.*611T>C http://identifiers.org/clinvar/368877 ^@ NM_057176.2(BSND):c.*175C>G http://identifiers.org/clinvar/368878 ^@ NM_002353.2(TACSTD2):c.*765C>T http://identifiers.org/clinvar/368879 ^@ NM_001902.5(CTH):c.*735G>A http://identifiers.org/clinvar/368880 ^@ NM_053274.2(GLMN):c.*143G>A http://identifiers.org/clinvar/368881 ^@ NM_005445.3(SMC3):c.-135G>A http://identifiers.org/clinvar/368882 ^@ NM_005445.3(SMC3):c.-130G>A http://identifiers.org/clinvar/368893 ^@ NM_001609.3(ACADSB):c.-123G>A http://identifiers.org/clinvar/368894 ^@ NM_001008211.1(OPTN):c.-454C>T http://identifiers.org/clinvar/368895 ^@ NM_001008211.1(OPTN):c.*1421T>G http://identifiers.org/clinvar/368896 ^@ NM_201590.2(CACNB2):c.-254C>A http://identifiers.org/clinvar/368897 ^@ NM_201596.2(CACNB2):c.214-61250G>A http://identifiers.org/clinvar/368898 ^@ NM_020630.4(RET):c.-200A>G http://identifiers.org/clinvar/368899 ^@ NM_020975.4(RET):c.-196C>A http://identifiers.org/clinvar/368900 ^@ NM_000242.2(MBL2):c.-66C>T http://identifiers.org/clinvar/368901 ^@ NM_000417.2(IL2RA):c.*2191T>G http://identifiers.org/clinvar/368908 ^@ NG_009301.1:g.41130C>T http://identifiers.org/clinvar/368910 ^@ NG_009301.1:g.40968C>T http://identifiers.org/clinvar/368918 ^@ NG_009301.1:g.40609G>A http://identifiers.org/clinvar/368919 ^@ NG_009301.1:g.40570C>G http://identifiers.org/clinvar/368924 ^@ NM_001042465.2(PSAP):c.-118G>A http://identifiers.org/clinvar/368925 ^@ NG_012633.1:g.683G>C http://identifiers.org/clinvar/368929 ^@ NM_001141945.2(ACTA2):c.*158G>A http://identifiers.org/clinvar/368932 ^@ NM_000019.3(ACAT1):c.*777_*780delAATT http://identifiers.org/clinvar/368933 ^@ NM_021603.3(FXYD2):c.20-2040C>T http://identifiers.org/clinvar/368934 ^@ NM_000732.4(CD3D):c.-147G>C http://identifiers.org/clinvar/368940 ^@ NC_000011.10:g.119096839C>T http://identifiers.org/clinvar/368941 ^@ NM_005188.3(CBL):c.-157A>G http://identifiers.org/clinvar/368942 ^@ NM_016952.4(CDON):c.*4135C>T http://identifiers.org/clinvar/368943 ^@ NM_016952.4(CDON):c.-131G>A http://identifiers.org/clinvar/368944 ^@ NM_014384.2(ACAD8):c.-67G>A http://identifiers.org/clinvar/368948 ^@ NM_000352.4(ABCC8):c.*118A>G http://identifiers.org/clinvar/368949 ^@ NM_003476.4(CSRP3):c.-252G>A http://identifiers.org/clinvar/368950 ^@ NM_004211.4(SLC6A5):c.-279A>G http://identifiers.org/clinvar/368951 ^@ NM_004211.4(SLC6A5):c.*206G>T http://identifiers.org/clinvar/368959 ^@ NM_000448.2(RAG1):c.*3331A>G http://identifiers.org/clinvar/368960 ^@ NM_207122.1(EXT2):c.*1153A>T http://identifiers.org/clinvar/368961 ^@ NM_057174.2(PEX16):c.*434G>A http://identifiers.org/clinvar/368962 ^@ NM_057174.2(PEX16):c.*422A>G http://identifiers.org/clinvar/368974 ^@ NM_006755.1(TALDO1):c.*192G>A http://identifiers.org/clinvar/368975 ^@ NM_000260.3(MYO7A):c.*546C>T http://identifiers.org/clinvar/368976 ^@ NM_000260.3(MYO7A):c.*560C>T http://identifiers.org/clinvar/368977 ^@ NM_139319.2(SLC17A8):c.*1913T>A http://identifiers.org/clinvar/368978 ^@ NM_000277.1(PAH):c.-479_-476delACTG http://identifiers.org/clinvar/368980 ^@ NM_021625.4(TRPV4):c.-95G>A http://identifiers.org/clinvar/368981 ^@ NM_001171993.1(HPD):c.-115+52A>G http://identifiers.org/clinvar/368982 ^@ NM_001171993.1(HPD):c.-115+47G>A http://identifiers.org/clinvar/368984 ^@ NG_012743.1:g.463C>T http://identifiers.org/clinvar/368991 ^@ NM_004064.4(CDKN1B):c.*1357T>C http://identifiers.org/clinvar/368992 ^@ NM_001304481.1(FGD4):c.10+15957C>A http://identifiers.org/clinvar/369015 ^@ NM_004572.3(PKP2):c.-116C>T http://identifiers.org/clinvar/369016 ^@ NM_198578.3(LRRK2):c.-124G>C http://identifiers.org/clinvar/369017 ^@ NM_001844.4(COL2A1):c.-187G>A http://identifiers.org/clinvar/369018 ^@ NM_001174125.1(SLC11A2):c.49+1757C>T http://identifiers.org/clinvar/369019 ^@ NM_001174125.1(SLC11A2):c.49+1746C>T http://identifiers.org/clinvar/369020 ^@ NM_002234.3(KCNA5):c.*800G>A http://identifiers.org/clinvar/369021 ^@ NM_000423.2(KRT2):c.*466A>C http://identifiers.org/clinvar/369026 ^@ NM_001159287.1(TPI1):c.66G>A (p.Pro22=) http://identifiers.org/clinvar/369027 ^@ NM_001159287.1(TPI1):c.69A>G (p.Arg23=) http://identifiers.org/clinvar/369028 ^@ NM_002469.2(MYF6):c.-101G>A http://identifiers.org/clinvar/369029 ^@ NM_020661.3(AICDA):c.-84A>G http://identifiers.org/clinvar/369030 ^@ NM_002108.3(HAL):c.-378A>G http://identifiers.org/clinvar/369031 ^@ NM_000123.3(ERCC5):c.-440A>C http://identifiers.org/clinvar/369032 ^@ NM_000123.3(ERCC5):c.-437C>A http://identifiers.org/clinvar/369033 ^@ NM_002312.3(LIG4):c.-282T>C http://identifiers.org/clinvar/369034 ^@ NM_001845.5(COL4A1):c.*1404T>C http://identifiers.org/clinvar/369055 ^@ NM_021954.3(GJA3):c.-179C>T http://identifiers.org/clinvar/369056 ^@ NM_004004.5(GJB2):c.*1447G>A http://identifiers.org/clinvar/369062 ^@ NC_000013.11:g.23329665G>A http://identifiers.org/clinvar/369066 ^@ NC_000014.9:g.23408281C>T http://identifiers.org/clinvar/369073 ^@ NM_000161.2(GCH1):c.-169C>T http://identifiers.org/clinvar/369074 ^@ NM_172337.2(OTX2):c.-220C>T http://identifiers.org/clinvar/369075 ^@ NM_005982.3(SIX1):c.-255G>T http://identifiers.org/clinvar/369076 ^@ NM_000021.3(PSEN1):c.-296C>T http://identifiers.org/clinvar/369084 ^@ NM_001127701.1(SERPINA1):c.*1703C>T http://identifiers.org/clinvar/369085 ^@ NM_003384.2(VRK1):c.-110C>T http://identifiers.org/clinvar/369090 ^@ NM_018648.3(NOP10):c.-95T>C http://identifiers.org/clinvar/369091 ^@ NM_173500.3(TTBK2):c.*1463G>A http://identifiers.org/clinvar/369092 ^@ NM_183235.2(RAB27A):c.*2554C>T http://identifiers.org/clinvar/369093 ^@ NM_001018005.1(TPM1):c.-206G>A http://identifiers.org/clinvar/369094 ^@ NM_000942.4(PPIB):c.-171C>T http://identifiers.org/clinvar/369095 ^@ NM_000942.4(PPIB):c.-181G>A http://identifiers.org/clinvar/369096 ^@ NM_001101362.2(KBTBD13):c.*1758T>G http://identifiers.org/clinvar/369097 ^@ NM_005902.3(SMAD3):c.*4658T>C http://identifiers.org/clinvar/369098 ^@ NM_017882.2(CLN6):c.*1157A>G http://identifiers.org/clinvar/369099 ^@ NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC http://identifiers.org/clinvar/369100 ^@ NM_001142617.1(STRA6):c.*628G>A http://identifiers.org/clinvar/369101 ^@ NM_003978.4(PSTPIP1):c.*154_*156delCTC http://identifiers.org/clinvar/369102 ^@ NM_000137.2(FAH):c.-178G>A http://identifiers.org/clinvar/369104 ^@ NM_001039958.1(MESP2):c.*431C>T http://identifiers.org/clinvar/369105 ^@ NM_000875.4(IGF1R):c.-56_-48delTTTTTTTTT http://identifiers.org/clinvar/369106 ^@ NM_000875.4(IGF1R):c.-51T>C http://identifiers.org/clinvar/369107 ^@ NM_032520.4(GNPTG):c.-72G>C http://identifiers.org/clinvar/369108 ^@ NM_001040113.1(MYH11):c.-115delG http://identifiers.org/clinvar/369109 ^@ NM_001042432.1(CLN3):c.-376_-371delTGAAGC http://identifiers.org/clinvar/369110 ^@ NC_000016.10:g.31087679C>T http://identifiers.org/clinvar/369113 ^@ NM_031885.3(BBS2):c.-239G>A http://identifiers.org/clinvar/369114 ^@ NM_031885.3(BBS2):c.-242T>C http://identifiers.org/clinvar/369115 ^@ NM_000078.2(CETP):c.-65G>A http://identifiers.org/clinvar/369116 ^@ NM_000078.2(CETP):c.*184C>G http://identifiers.org/clinvar/369117 ^@ NM_001297.4(CNGB1):c.*1837delA http://identifiers.org/clinvar/369118 ^@ NM_001297.4(CNGB1):c.*1828A>T http://identifiers.org/clinvar/369119 ^@ NM_001297.4(CNGB1):c.*1827T>A http://identifiers.org/clinvar/369120 ^@ NM_001297.4(CNGB1):c.*1826T>A http://identifiers.org/clinvar/369121 ^@ NM_001297.4(CNGB1):c.*1825T>A http://identifiers.org/clinvar/369122 ^@ NM_004360.4(CDH1):c.*2047A>G http://identifiers.org/clinvar/369123 ^@ NM_004360.4(CDH1):c.*2050T>A http://identifiers.org/clinvar/369124 ^@ NM_000353.2(TAT):c.-104_-103delCT http://identifiers.org/clinvar/369125 ^@ NM_000353.2(TAT):c.-113G>T http://identifiers.org/clinvar/369126 ^@ NM_001361.4(DHODH):c.-29A>G http://identifiers.org/clinvar/369127 ^@ NM_024306.4(FA2H):c.-84G>C http://identifiers.org/clinvar/369134 ^@ NM_000485.2(APRT):c.-50C>A http://identifiers.org/clinvar/369142 ^@ NM_000512.4(GALNS):c.-92T>C http://identifiers.org/clinvar/369143 ^@ NM_000303.2(PMM2):c.*1516C>G http://identifiers.org/clinvar/369144 ^@ NM_004589.3(SCO1):c.-71G>T http://identifiers.org/clinvar/369145 ^@ NM_000458.3(HNF1B):c.-232C>T http://identifiers.org/clinvar/369146 ^@ NM_213607.2(CCDC103):c.-164T>G http://identifiers.org/clinvar/369147 ^@ NM_002055.4(GFAP):c.*1629C>T http://identifiers.org/clinvar/369148 ^@ NM_002055.4(GFAP):c.*1620C>T http://identifiers.org/clinvar/369150 ^@ NM_002055.4(GFAP):c.*1285C>T http://identifiers.org/clinvar/369152 ^@ NM_002055.4(GFAP):c.*1001G>A http://identifiers.org/clinvar/369185 ^@ NC_000017.11:g.46027247dupG http://identifiers.org/clinvar/369214 ^@ NM_001193466.1(KANSL1):c.-475C>G http://identifiers.org/clinvar/369215 ^@ NM_001193466.1(KANSL1):c.-486C>T http://identifiers.org/clinvar/369216 ^@ NM_018129.3(PNPO):c.*2535_*2539delCAACC http://identifiers.org/clinvar/369217 ^@ NM_001005207.3(TRIM37):c.-449dupC http://identifiers.org/clinvar/369218 ^@ NM_000515.4(GH1):c.-63A>T http://identifiers.org/clinvar/369219 ^@ NM_000515.4(GH1):c.-63A>C http://identifiers.org/clinvar/369220 ^@ NM_000515.4(GH1):c.-68A>G http://identifiers.org/clinvar/369221 ^@ NM_014336.4(AIPL1):c.-106C>A http://identifiers.org/clinvar/369222 ^@ NM_014336.4(AIPL1):c.-107C>G http://identifiers.org/clinvar/369223 ^@ NM_001276290.1(PRKAR1A):c.973+7591G>A http://identifiers.org/clinvar/369224 ^@ NM_173477.4(USH1G):c.*1990A>G http://identifiers.org/clinvar/369225 ^@ NM_207346.2(TSEN54):c.*331T>A http://identifiers.org/clinvar/369229 ^@ NM_024599.5(RHBDF2):c.*742A>C http://identifiers.org/clinvar/369230 ^@ NM_024599.5(RHBDF2):c.-297C>T http://identifiers.org/clinvar/369231 ^@ NM_024599.5(RHBDF2):c.-305C>G http://identifiers.org/clinvar/369232 ^@ NM_006640.4(SEPT9):c.-819C>T http://identifiers.org/clinvar/369233 ^@ NM_001126113.2(TP53):c.*1422G>C http://identifiers.org/clinvar/369234 ^@ NM_018081.2(WRAP53):c.-314T>G http://identifiers.org/clinvar/369235 ^@ NM_000546.5(TP53):c.-1056C>G http://identifiers.org/clinvar/369236 ^@ NM_001126118.1(TP53):c.-1329C>T http://identifiers.org/clinvar/369245 ^@ NM_025099.5(CTC1):c.-62dupC http://identifiers.org/clinvar/369246 ^@ NM_025099.5(CTC1):c.-69G>A http://identifiers.org/clinvar/369247 ^@ NM_006796.2(AFG3L2):c.-206C>A http://identifiers.org/clinvar/369248 ^@ NM_006796.2(AFG3L2):c.-207T>A http://identifiers.org/clinvar/369249 ^@ NM_000529.2(MC2R):c.-179T>C http://identifiers.org/clinvar/369250 ^@ NM_000529.2(MC2R):c.-184C>T http://identifiers.org/clinvar/369251 ^@ NM_005359.5(SMAD4):c.*6586C>T http://identifiers.org/clinvar/369252 ^@ NM_005359.5(SMAD4):c.*6588C>G http://identifiers.org/clinvar/369253 ^@ NM_021074.4(NDUFV2):c.*77C>G http://identifiers.org/clinvar/369254 ^@ NM_001130823.2(DNMT1):c.*323C>G http://identifiers.org/clinvar/369259 ^@ NM_000215.3(JAK3):c.*1966_*1967delTT http://identifiers.org/clinvar/369260 ^@ NM_000215.3(JAK3):c.*1965_*1966insGT http://identifiers.org/clinvar/369261 ^@ NM_000095.2(COMP):c.*155G>C http://identifiers.org/clinvar/369262 ^@ NM_001256047.1(C19orf12):c.*3833T>A http://identifiers.org/clinvar/369263 ^@ NM_004646.3(NPHS1):c.-170T>C http://identifiers.org/clinvar/369264 ^@ NM_032753.3(RAX2):c.-72C>T http://identifiers.org/clinvar/369265 ^@ NM_001022.3(RPS19):c.*54T>C http://identifiers.org/clinvar/369266 ^@ NM_212550.4(BLOC1S3):c.*1905T>C http://identifiers.org/clinvar/369267 ^@ NM_001017989.2(OPA3):c.143-16812G>A http://identifiers.org/clinvar/369268 ^@ NM_001017989.2(OPA3):c.-113T>C http://identifiers.org/clinvar/369275 ^@ NG_008152.1:g.8369G>A http://identifiers.org/clinvar/369277 ^@ NG_008152.1:g.8559T>C http://identifiers.org/clinvar/369281 ^@ NM_002103.4(GYS1):c.2043C>T (p.Ala681=) http://identifiers.org/clinvar/369285 ^@ NM_002103.4(GYS1):c.1749C>A (p.Ile583=) http://identifiers.org/clinvar/369287 ^@ NM_002103.4(GYS1):c.-253delG http://identifiers.org/clinvar/369288 ^@ NG_027551.1:g.1696_1698delCAT http://identifiers.org/clinvar/369289 ^@ NM_030657.3(LIM2):c.*306A>C http://identifiers.org/clinvar/369290 ^@ NM_001277126.1(NLRP12):c.*471A>G http://identifiers.org/clinvar/369291 ^@ NM_015629.3(PRPF31):c.-410C>T http://identifiers.org/clinvar/369292 ^@ NM_024075.4(TSEN34):c.*1176A>T http://identifiers.org/clinvar/369293 ^@ NM_024075.4(TSEN34):c.*1177G>T http://identifiers.org/clinvar/369294 ^@ NM_000363.4(TNNI3):c.-148A>G http://identifiers.org/clinvar/369295 ^@ NM_000363.4(TNNI3):c.-1694G>A http://identifiers.org/clinvar/369296 ^@ NG_007866.2:g.2764G>A http://identifiers.org/clinvar/369298 ^@ NM_001289123.1(TUBB4A):c.*856G>A http://identifiers.org/clinvar/369299 ^@ NM_000208.3(INSR):c.*4803G>A http://identifiers.org/clinvar/369300 ^@ NM_000208.3(INSR):c.*4802C>T http://identifiers.org/clinvar/369302 ^@ NM_006702.4(PNPLA6):c.-261T>C http://identifiers.org/clinvar/369303 ^@ NM_020533.2(MCOLN1):c.*426C>T http://identifiers.org/clinvar/369306 ^@ NM_022336.3(EDAR):c.*2450G>A http://identifiers.org/clinvar/369307 ^@ NM_012275.2(IL36RN):c.-175G>A http://identifiers.org/clinvar/369308 ^@ NM_139343.2(BIN1):c.-389T>A http://identifiers.org/clinvar/369309 ^@ NM_000122.1(ERCC3):c.-98A>G http://identifiers.org/clinvar/369310 ^@ NM_001172435.1(RAB3GAP1):c.*1941G>T http://identifiers.org/clinvar/369311 ^@ NM_000726.4(CACNB4):c.-70G>A http://identifiers.org/clinvar/369312 ^@ NM_001040142.1(SCN2A):c.*2490G>A http://identifiers.org/clinvar/369313 ^@ NM_024753.4(TTC21B):c.-145G>A http://identifiers.org/clinvar/369318 ^@ NM_003690.4(PRKRA):c.-216G>A http://identifiers.org/clinvar/369319 ^@ NM_003690.4(PRKRA):c.-734G>C http://identifiers.org/clinvar/369320 ^@ NM_001030311.2(CERKL):c.*1523G>A http://identifiers.org/clinvar/369321 ^@ NM_014585.5(SLC40A1):c.-354G>T http://identifiers.org/clinvar/369322 ^@ NM_000534.4(PMS1):c.-535G>T http://identifiers.org/clinvar/369325 ^@ NM_002381.4(MATN3):c.-76C>A http://identifiers.org/clinvar/369326 ^@ NM_015040.3(PIKFYVE):c.-166A>T http://identifiers.org/clinvar/369327 ^@ NM_015040.3(PIKFYVE):c.-160A>G http://identifiers.org/clinvar/369328 ^@ NM_000465.3(BARD1):c.*138dupA http://identifiers.org/clinvar/369329 ^@ NM_015488.4(PNKD):c.*1821C>T http://identifiers.org/clinvar/369330 ^@ NM_002181.3(IHH):c.-58C>T http://identifiers.org/clinvar/369331 ^@ NM_001927.3(DES):c.*762T>C http://identifiers.org/clinvar/369332 ^@ NM_025243.3(SLC19A3):c.-90C>T http://identifiers.org/clinvar/369333 ^@ NM_080424.2(SP110):c.*206_*207insAATTAA http://identifiers.org/clinvar/369340 ^@ NM_000221.2(KHK):c.*1009T>G http://identifiers.org/clinvar/369341 ^@ NM_001011.3(RPS7):c.-109C>T http://identifiers.org/clinvar/369344 ^@ NM_000145.3(FSHR):c.-114T>C http://identifiers.org/clinvar/369345 ^@ NM_015910.5(WDPCP):c.*624_*625delAA http://identifiers.org/clinvar/369346 ^@ NM_001692.3(ATP6V1B1):c.-89A>G http://identifiers.org/clinvar/369347 ^@ NM_032601.3(MCEE):c.*300T>A http://identifiers.org/clinvar/369348 ^@ NM_003896.3(ST3GAL5):c.-140C>A http://identifiers.org/clinvar/369349 ^@ NM_003896.3(ST3GAL5):c.-141T>C http://identifiers.org/clinvar/369350 ^@ NM_004836.6(EIF2AK3):c.*1007C>G http://identifiers.org/clinvar/369351 ^@ NM_001298.2(CNGA3):c.*1351T>G http://identifiers.org/clinvar/369352 ^@ NM_000214.2(JAG1):c.-528C>A http://identifiers.org/clinvar/369353 ^@ NM_014588.5(VSX1):c.-289C>G http://identifiers.org/clinvar/369354 ^@ NM_015600.4(ABHD12):c.1157+2023C>T http://identifiers.org/clinvar/369355 ^@ NM_033118.3(MYLK2):c.*911T>A http://identifiers.org/clinvar/369356 ^@ NM_000782.4(CYP24A1):c.*1327G>A http://identifiers.org/clinvar/369357 ^@ NM_000782.4(CYP24A1):c.-400G>A http://identifiers.org/clinvar/369358 ^@ NM_182734.2(PLCB1):c.*3300C>A http://identifiers.org/clinvar/369359 ^@ NM_000484.3(APP):c.*1125T>G http://identifiers.org/clinvar/369360 ^@ NM_000454.4(SOD1):c.-156G>C http://identifiers.org/clinvar/369361 ^@ NM_000219.5(KCNE1):c.-628A>G http://identifiers.org/clinvar/369362 ^@ NM_000411.6(HLCS):c.-492A>G http://identifiers.org/clinvar/369363 ^@ NM_001848.2(COL6A1):c.-103C>A http://identifiers.org/clinvar/369368 ^@ NM_001849.3(COL6A2):c.*307G>A http://identifiers.org/clinvar/369369 ^@ NC_000021.9:g.46136261G>A http://identifiers.org/clinvar/369375 ^@ NM_000355.3(TCN2):c.-250C>T http://identifiers.org/clinvar/369376 ^@ NM_000362.4(TIMP3):c.-1200C>T http://identifiers.org/clinvar/369377 ^@ NM_002473.5(MYH9):c.*1399C>T http://identifiers.org/clinvar/369378 ^@ NM_002473.5(MYH9):c.*1394C>T http://identifiers.org/clinvar/369379 ^@ NM_153609.3(TMPRSS6):c.-120G>A http://identifiers.org/clinvar/369382 ^@ NM_000388.3(CASR):c.-379delC http://identifiers.org/clinvar/369383 ^@ NM_053025.3(MYLK):c.-288C>T http://identifiers.org/clinvar/369384 ^@ NM_001145394.1(TSEN2):c.-28G>A http://identifiers.org/clinvar/369385 ^@ NM_000174.4(GP9):c.*143dupT http://identifiers.org/clinvar/369401 ^@ NG_008975.1:g.25602_25605delAACG http://identifiers.org/clinvar/369406 ^@ NM_031850.3(AGTR1):c.*899T>G http://identifiers.org/clinvar/369407 ^@ NG_011800.2:g.59053dupA http://identifiers.org/clinvar/369411 ^@ NM_005677.3(COLQ):c.-136_-135delGA http://identifiers.org/clinvar/369412 ^@ NM_005677.3(COLQ):c.-136G>C http://identifiers.org/clinvar/369413 ^@ NM_005025.4(SERPINI1):c.-1308C>G http://identifiers.org/clinvar/369416 ^@ NM_005025.4(SERPINI1):c.*256dupT http://identifiers.org/clinvar/369417 ^@ NM_198407.2(GHSR):c.*1880delA http://identifiers.org/clinvar/369418 ^@ NM_003722.4(TP63):c.*2789A>G http://identifiers.org/clinvar/369419 ^@ NM_017875.2(SLC25A38):c.*809C>T http://identifiers.org/clinvar/369420 ^@ NM_016006.4(ABHD5):c.-114A>G http://identifiers.org/clinvar/369421 ^@ NM_144499.2(GNAT1):c.-130G>C http://identifiers.org/clinvar/369422 ^@ NM_000925.3(PDHB):c.*407_*408delAA http://identifiers.org/clinvar/369423 ^@ NM_032682.5(FOXP1):c.-542delG http://identifiers.org/clinvar/369424 ^@ NM_001128929.3(ROBO2):c.*3923C>T http://identifiers.org/clinvar/369434 ^@ NM_000204.4(CFI):c.*214A>G http://identifiers.org/clinvar/369435 ^@ NM_003619.3(PRSS12):c.-57T>C http://identifiers.org/clinvar/369436 ^@ NM_001178007.1(BBS12):c.-391C>T http://identifiers.org/clinvar/369437 ^@ NM_000901.4(NR3C2):c.*2581C>T http://identifiers.org/clinvar/369438 ^@ NM_000509.5(FGG):c.*216C>T http://identifiers.org/clinvar/369439 ^@ NM_000824.4(GLRB):c.*1367T>C http://identifiers.org/clinvar/369440 ^@ NM_000860.5(HPGD):c.-453A>G http://identifiers.org/clinvar/369441 ^@ NM_006206.5(PDGFRA):c.*2987G>A http://identifiers.org/clinvar/369443 ^@ NM_025074.6(FRAS1):c.*3146_*3149delTTTG http://identifiers.org/clinvar/369444 ^@ NM_004407.3(DMP1):c.-113delA http://identifiers.org/clinvar/369445 ^@ NM_000345.3(SNCA):c.-274G>A http://identifiers.org/clinvar/369446 ^@ NM_139281.2(WDR36):c.*3631C>T http://identifiers.org/clinvar/369447 ^@ NM_005573.3(LMNB1):c.-894C>T http://identifiers.org/clinvar/369448 ^@ NM_001999.3(FBN2):c.-448C>T http://identifiers.org/clinvar/369449 ^@ NM_199189.2(MATR3):c.-784G>A http://identifiers.org/clinvar/369462 ^@ NM_000505.3(F12):c.-57G>C http://identifiers.org/clinvar/369463 ^@ NM_000505.3(F12):c.-62C>T http://identifiers.org/clinvar/369472 ^@ NM_023073.3(C5orf42):c.-234G>C http://identifiers.org/clinvar/369473 ^@ NM_000514.3(GDNF):c.-213_-212insCGG http://identifiers.org/clinvar/369474 ^@ NM_002310.5(LIFR):c.*6640dupA http://identifiers.org/clinvar/369475 ^@ NM_000436.3(OXCT1):c.-346G>A http://identifiers.org/clinvar/369476 ^@ NM_004465.1(FGF10):c.*5A>T http://identifiers.org/clinvar/369503 ^@ NM_000082.3(ERCC8):c.-133C>G http://identifiers.org/clinvar/369506 ^@ NM_000521.3(HEXB):c.-126C>T http://identifiers.org/clinvar/369507 ^@ NM_000521.3(HEXB):c.-122delC http://identifiers.org/clinvar/369508 ^@ NM_003664.4(AP3B1):c.*588A>G http://identifiers.org/clinvar/369509 ^@ NM_000046.3(ARSB):c.*3195A>G http://identifiers.org/clinvar/369510 ^@ NM_145655.3(GCNT2):c.*2765C>T http://identifiers.org/clinvar/369511 ^@ NM_007214.4(SEC63):c.*3959dupT http://identifiers.org/clinvar/369512 ^@ NM_004752.3(GCM2):c.-74C>T http://identifiers.org/clinvar/369513 ^@ NM_000165.4(GJA1):c.*1733C>T http://identifiers.org/clinvar/369514 ^@ NM_006208.2(ENPP1):c.-24G>C http://identifiers.org/clinvar/369515 ^@ NM_003764.3(STX11):c.*4457G>A http://identifiers.org/clinvar/369516 ^@ NG_008191.1:g.2157G>A http://identifiers.org/clinvar/369520 ^@ NM_001710.5(CFB):c.-2261G>A http://identifiers.org/clinvar/369540 ^@ NM_080680.2(COL11A2):c.-241G>A http://identifiers.org/clinvar/369541 ^@ NM_001014.4(RPS10):c.-98T>C http://identifiers.org/clinvar/369542 ^@ NC_000006.12:g.42179413C>A http://identifiers.org/clinvar/369546 ^@ NC_000006.12:g.42179818C>T http://identifiers.org/clinvar/369565 ^@ NM_012120.2(CD2AP):c.*3047G>A http://identifiers.org/clinvar/369566 ^@ NM_003221.3(TFAP2B):c.*4228G>T http://identifiers.org/clinvar/369567 ^@ NM_015548.4(DST):c.-110G>A http://identifiers.org/clinvar/369568 ^@ NM_004415.3(DSP):c.-281C>T http://identifiers.org/clinvar/369569 ^@ NC_000006.12:g.87511673C>T http://identifiers.org/clinvar/369571 ^@ NC_000006.12:g.87511813dupA http://identifiers.org/clinvar/369575 ^@ NM_002291.2(LAMB1):c.5225-7C>T http://identifiers.org/clinvar/369576 ^@ NM_006193.2(PAX4):c.-221G>C http://identifiers.org/clinvar/369577 ^@ NM_000883.3(IMPDH1):c.*733C>T http://identifiers.org/clinvar/369578 ^@ NM_004456.4(EZH2):c.*275A>G http://identifiers.org/clinvar/369579 ^@ NM_022458.3(LMBR1):c.*3207T>G http://identifiers.org/clinvar/369580 ^@ NM_001277115.1(DNAH11):c.*504_*510delTCCAGTG http://identifiers.org/clinvar/369581 ^@ NM_001277115.1(DNAH11):c.*567A>G http://identifiers.org/clinvar/369582 ^@ NM_004403.2(DFNA5):c.-345delG http://identifiers.org/clinvar/369584 ^@ NC_000007.14:g.27095695_27095697delCGA http://identifiers.org/clinvar/369585 ^@ NC_000007.14:g.27095695C>T http://identifiers.org/clinvar/369588 ^@ NM_000168.5(GLI3):c.*3392G>T http://identifiers.org/clinvar/369589 ^@ NM_000168.5(GLI3):c.-94C>G http://identifiers.org/clinvar/369590 ^@ NM_000535.6(PMS2):c.-93G>T http://identifiers.org/clinvar/369591 ^@ NM_000601.5(HGF):c.*467A>G http://identifiers.org/clinvar/369592 ^@ NM_152564.4(VPS13B):c.*1932T>G http://identifiers.org/clinvar/369593 ^@ NM_000127.2(EXT1):c.-774C>G http://identifiers.org/clinvar/369594 ^@ NM_000127.2(EXT1):c.-776T>C http://identifiers.org/clinvar/369595 ^@ NG_012842.2:g.95501dupC http://identifiers.org/clinvar/369596 ^@ NM_000498.3(CYP11B2):c.-14G>C http://identifiers.org/clinvar/369604 ^@ NM_006129.4(BMP1):c.-277delG http://identifiers.org/clinvar/369608 ^@ NM_000742.3(CHRNA2):c.*1882C>A http://identifiers.org/clinvar/369609 ^@ NM_000742.3(CHRNA2):c.*1873A>G http://identifiers.org/clinvar/369610 ^@ NM_018105.2(THAP1):c.-240G>A http://identifiers.org/clinvar/369611 ^@ NM_006269.1(RP1):c.-154T>C http://identifiers.org/clinvar/369612 ^@ NM_017780.3(CHD7):c.*2104T>A http://identifiers.org/clinvar/369613 ^@ NM_020361.4(CPA6):c.-269G>A http://identifiers.org/clinvar/369614 ^@ NM_000503.5(EYA1):c.*1914T>G http://identifiers.org/clinvar/369615 ^@ NM_000067.2(CA2):c.-181A>T http://identifiers.org/clinvar/369616 ^@ NM_019098.4(CNGB3):c.*1881T>C http://identifiers.org/clinvar/369617 ^@ NM_018444.3(PDP1):c.-273T>A http://identifiers.org/clinvar/369618 ^@ NM_001001557.3(GDF6):c.*2243G>C http://identifiers.org/clinvar/369619 ^@ NM_005502.3(ABCA1):c.-412C>G http://identifiers.org/clinvar/369620 ^@ NM_003640.4(IKBKAP):c.-534delC http://identifiers.org/clinvar/369621 ^@ NM_014908.3(DOLK):c.-435C>T http://identifiers.org/clinvar/369622 ^@ NM_000368.4(TSC1):c.*4898G>A http://identifiers.org/clinvar/369623 ^@ NM_000368.4(TSC1):c.-242G>T http://identifiers.org/clinvar/369624 ^@ NM_016219.4(MAN1B1):c.*597G>A http://identifiers.org/clinvar/369625 ^@ NM_024757.4(EHMT1):c.*1179G>T http://identifiers.org/clinvar/369626 ^@ NM_203447.3(DOCK8):c.-113C>T http://identifiers.org/clinvar/369627 ^@ NM_002451.3(MTAP):c.-117T>C http://identifiers.org/clinvar/369629 ^@ NM_004629.1(FANCG):c.-504A>T http://identifiers.org/clinvar/369630 ^@ NM_000170.2(GLDC):c.*557C>G http://identifiers.org/clinvar/369631 ^@ NM_001127628.1(FBP1):c.-24-321C>G http://identifiers.org/clinvar/369632 ^@ NM_002578.4(PAK3):c.*499delA http://identifiers.org/clinvar/369633 ^@ NM_002351.4(SH2D1A):c.*1773G>A http://identifiers.org/clinvar/369634 ^@ NM_000133.3(F9):c.*1399T>C http://identifiers.org/clinvar/369635 ^@ NM_000033.3(ABCD1):c.*1035C>T http://identifiers.org/clinvar/369636 ^@ NM_001039891.2(ZNF674):c.*2120A>C http://identifiers.org/clinvar/369637 ^@ NM_153280.2(UBA1):c.*203C>T http://identifiers.org/clinvar/369638 ^@ NM_001127899.3(CLCN5):c.164-2333T>G http://identifiers.org/clinvar/369639 ^@ NM_153252.4(BRWD3):c.-267_-266delCT http://identifiers.org/clinvar/369652 ^@ NM_006177.3(NRL):c.91C>T (p.Arg31Ter) http://identifiers.org/clinvar/369690 ^@ NM_001130987.1(DYSF):c.4941delG (p.Lys1648Argfs) http://identifiers.org/clinvar/369655 ^@ NM_004006.2(DMD):c.6139C>T (p.Gln2047Ter) http://identifiers.org/clinvar/369656 ^@ NM_003070.4(SMARCA2):c.3562G>A (p.Ala1188Thr) http://identifiers.org/clinvar/369657 ^@ NM_007118.3(TRIO):c.634G>T (p.Glu212Ter) http://identifiers.org/clinvar/369658 ^@ NM_001396.4(DYRK1A):c.476dupA (p.Tyr159Terfs) http://identifiers.org/clinvar/369680 ^@ NM_002296.3(LBR):c.1747C>T (p.Arg583Ter) http://identifiers.org/clinvar/369673 ^@ NM_025243.3(SLC19A3):c.337T>C (p.Tyr113His) http://identifiers.org/clinvar/369672 ^@ NM_025243.3(SLC19A3):c.81_82dupGA (p.Met28Argfs) http://identifiers.org/clinvar/369683 ^@ NM_020458.3(TTC7A):c.2470C>T (p.Gln824Ter) http://identifiers.org/clinvar/369682 ^@ NM_001615.3(ACTG2):c.613G>A (p.Ala205Thr) http://identifiers.org/clinvar/369666 ^@ NM_016381.5(TREX1):c.794G>A (p.Trp265Ter) http://identifiers.org/clinvar/369664 ^@ NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) http://identifiers.org/clinvar/369685 ^@ NM_022455.4(NSD1):c.6019A>T (p.Ile2007Phe) http://identifiers.org/clinvar/369665 ^@ NM_015384.4(NIPBL):c.7150C>T (p.Gln2384Ter) http://identifiers.org/clinvar/369668 ^@ NM_000089.3(COL1A2):c.2512G>A (p.Gly838Ser) http://identifiers.org/clinvar/369686 ^@ NM_006766.4(KAT6A):c.4254_4257delTGAG (p.Glu1419Trpfs) http://identifiers.org/clinvar/369684 ^@ NM_017890.4(VPS13B):c.2158C>T (p.Gln720Ter) http://identifiers.org/clinvar/369670 ^@ NM_004092.3(ECHS1):c.160C>T (p.Arg54Cys) http://identifiers.org/clinvar/369663 ^@ NM_012330.3(KAT6B):c.3664+1G>A http://identifiers.org/clinvar/369660 ^@ NM_001080463.1(DYNC2H1):c.10121G>A (p.Arg3374His) http://identifiers.org/clinvar/369661 ^@ NM_001080463.1(DYNC2H1):c.10343T>C (p.Leu3448Pro) http://identifiers.org/clinvar/369677 ^@ NM_000192.3(TBX5):c.105delC (p.Ser36Alafs) http://identifiers.org/clinvar/369679 ^@ NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser) http://identifiers.org/clinvar/369674 ^@ NM_003482.3(KMT2D):c.14075+1G>A http://identifiers.org/clinvar/369675 ^@ NM_052867.2(NALCN):c.985A>G (p.Arg329Gly) http://identifiers.org/clinvar/369681 ^@ NM_005249.4(FOXG1):c.543G>T (p.Lys181Asn) http://identifiers.org/clinvar/369671 ^@ NM_001244189.1(KIAA0586):c.949C>T (p.Gln317Ter) http://identifiers.org/clinvar/369676 ^@ NM_001009944.2(PKD1):c.10583G>A (p.Trp3528Ter) http://identifiers.org/clinvar/369662 ^@ NM_152296.4(ATP1A3):c.2512_2516delAGACTinsTC (p.Arg838_Leu839delinsSer) http://identifiers.org/clinvar/369667 ^@ NM_000411.6(HLCS):c.722G>C (p.Gly241Ala) http://identifiers.org/clinvar/369678 ^@ NM_001143981.1(CHRDL1):c.520dupT (p.Ser174Phefs) http://identifiers.org/clinvar/369659 ^@ NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) http://identifiers.org/clinvar/369669 ^@ NM_018486.2(HDAC8):c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer) http://identifiers.org/clinvar/369724 ^@ NM_000153.3(GALC):c.628A>T (p.Arg210Ter) http://identifiers.org/clinvar/369725 ^@ NM_138694.3(PKHD1):c.1829A>G (p.Tyr610Cys) http://identifiers.org/clinvar/369726 ^@ NM_000033.3(ABCD1):c.529C>T (p.Gln177Ter) http://identifiers.org/clinvar/369727 ^@ NM_000089.3(COL1A2):c.1550G>A (p.Gly517Asp) http://identifiers.org/clinvar/369728 ^@ NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) http://identifiers.org/clinvar/369729 ^@ NM_001098426.1(SMARCD2):c.1181+1G>A http://identifiers.org/clinvar/369730 ^@ NM_001098426.1(SMARCD2):c.414_438dup25 (p.Gln147Glufs) http://identifiers.org/clinvar/369731 ^@ NM_001098426.1(SMARCD2):c.401+2T>C http://identifiers.org/clinvar/369809 ^@ NM_172107.3(KCNQ2):c.1764-?_*(455_?)del http://identifiers.org/clinvar/369792 ^@ NM_172107.3(KCNQ2):c.1248-?_*(455_?)del http://identifiers.org/clinvar/369739 ^@ NM_172107.3(KCNQ2):c.(?_-177)_690+?del http://identifiers.org/clinvar/369815 ^@ NM_172107.3(KCNQ2):c.2599_2603dupTGGGC (p.Arg871Glyfs) http://identifiers.org/clinvar/369813 ^@ NM_172107.3(KCNQ2):c.1956G>A (p.Pro652=) http://identifiers.org/clinvar/369812 ^@ NM_172107.3(KCNQ2):c.1856_1886del31 (p.Met619Argfs) http://identifiers.org/clinvar/369811 ^@ NM_172107.3(KCNQ2):c.1783C>T (p.Arg595Trp) http://identifiers.org/clinvar/369810 ^@ NM_172107.3(KCNQ2):c.1776C>G (p.Ile592Met) http://identifiers.org/clinvar/369807 ^@ NM_172107.3(KCNQ2):c.1732A>G (p.Met578Val) http://identifiers.org/clinvar/369806 ^@ NM_172107.3(KCNQ2):c.1689C>G (p.Asp563Glu) http://identifiers.org/clinvar/369805 ^@ NM_172107.3(KCNQ2):c.1658G>T (p.Arg553Leu) http://identifiers.org/clinvar/369804 ^@ NM_172107.3(KCNQ2):c.1655A>C (p.Lys552Thr) http://identifiers.org/clinvar/369802 ^@ NM_172107.3(KCNQ2):c.1641G>A (p.Arg547=) http://identifiers.org/clinvar/369801 ^@ NM_172107.3(KCNQ2):c.1631+1G>A http://identifiers.org/clinvar/369800 ^@ NM_172107.3(KCNQ2):c.1621A>G (p.Arg541Gly) http://identifiers.org/clinvar/369799 ^@ NM_172107.3(KCNQ2):c.1609A>T (p.Lys537Ter) http://identifiers.org/clinvar/369798 ^@ NM_172107.3(KCNQ2):c.1602G>A (p.Pro534=) http://identifiers.org/clinvar/369797 ^@ NM_172107.3(KCNQ2):c.1501G>C (p.Ala501Pro) http://identifiers.org/clinvar/369795 ^@ NM_172107.3(KCNQ2):c.1418_1419delTC (p.Leu473Argfs) http://identifiers.org/clinvar/369794 ^@ NM_172107.3(KCNQ2):c.1382A>C (p.Gln461Pro) http://identifiers.org/clinvar/369791 ^@ NM_172107.3(KCNQ2):c.1247+1G>A http://identifiers.org/clinvar/369789 ^@ NM_172107.3(KCNQ2):c.1203T>C (p.Ser401=) http://identifiers.org/clinvar/369788 ^@ NM_172107.3(KCNQ2):c.1195_1196delAG (p.Ser399Terfs) http://identifiers.org/clinvar/369786 ^@ NM_172107.3(KCNQ2):c.1126delA (p.Thr376Leufs) http://identifiers.org/clinvar/369785 ^@ NM_172107.3(KCNQ2):c.1118+3A>G http://identifiers.org/clinvar/369784 ^@ NM_172107.3(KCNQ2):c.1085A>G (p.Tyr362Cys) http://identifiers.org/clinvar/369783 ^@ NM_172107.3(KCNQ2):c.1073C>T (p.Ser358Phe) http://identifiers.org/clinvar/369782 ^@ NM_172107.3(KCNQ2):c.1066C>G (p.Leu356Val) http://identifiers.org/clinvar/369781 ^@ NM_172107.3(KCNQ2):c.1054T>C (p.Ser352Pro) http://identifiers.org/clinvar/369780 ^@ NM_172107.3(KCNQ2):c.1053C>T (p.Leu351=) http://identifiers.org/clinvar/369779 ^@ NM_172107.3(KCNQ2):c.1051C>T (p.Leu351Phe) http://identifiers.org/clinvar/369778 ^@ NM_172107.3(KCNQ2):c.1051C>G (p.Leu351Val) http://identifiers.org/clinvar/369777 ^@ NM_172107.3(KCNQ2):c.1030T>C (p.Trp344Arg) http://identifiers.org/clinvar/369776 ^@ NM_172107.3(KCNQ2):c.1024-2A>G http://identifiers.org/clinvar/369775 ^@ NM_172107.3(KCNQ2):c.973A>G (p.Arg325Gly) http://identifiers.org/clinvar/369774 ^@ NM_172107.3(KCNQ2):c.973A>C (p.Arg325=) http://identifiers.org/clinvar/369773 ^@ NM_172107.3(KCNQ2):c.928-1G>C http://identifiers.org/clinvar/369772 ^@ NM_172107.3(KCNQ2):c.926C>T (p.Ala309Val) http://identifiers.org/clinvar/369771 ^@ NM_172107.3(KCNQ2):c.911T>C (p.Phe304Ser) http://identifiers.org/clinvar/369770 ^@ NM_172107.3(KCNQ2):c.901G>A (p.Gly301Ser) http://identifiers.org/clinvar/369769 ^@ NM_172107.3(KCNQ2):c.886A>C (p.Thr296Pro) http://identifiers.org/clinvar/369768 ^@ NM_172107.3(KCNQ2):c.868G>A (p.Gly290Ser) http://identifiers.org/clinvar/369767 ^@ NM_172107.3(KCNQ2):c.860C>A (p.Thr287Asn) http://identifiers.org/clinvar/369766 ^@ NM_172107.3(KCNQ2):c.854C>A (p.Pro285His) http://identifiers.org/clinvar/369765 ^@ NM_172107.3(KCNQ2):c.835G>T (p.Gly279Cys) http://identifiers.org/clinvar/369764 ^@ NM_172107.3(KCNQ2):c.827C>T (p.Thr276Ile) http://identifiers.org/clinvar/369763 ^@ NM_172107.3(KCNQ2):c.802C>T (p.Leu268Phe) http://identifiers.org/clinvar/369762 ^@ NM_172107.3(KCNQ2):c.793G>C (p.Ala265Pro) http://identifiers.org/clinvar/369761 ^@ NM_172107.3(KCNQ2):c.757G>A (p.Ala253Thr) http://identifiers.org/clinvar/369760 ^@ NM_172107.3(KCNQ2):c.715G>C (p.Gly239Arg) http://identifiers.org/clinvar/369759 ^@ NM_172107.3(KCNQ2):c.700A>C (p.Thr234Pro) http://identifiers.org/clinvar/369758 ^@ NM_172107.3(KCNQ2):c.650C>A (p.Thr217Asn) http://identifiers.org/clinvar/369757 ^@ NM_172107.3(KCNQ2):c.649A>G (p.Thr217Ala) http://identifiers.org/clinvar/369756 ^@ NM_172107.3(KCNQ2):c.643G>A (p.Gly215Arg) http://identifiers.org/clinvar/369755 ^@ NM_172107.3(KCNQ2):c.613A>G (p.Ile205Val) http://identifiers.org/clinvar/369754 ^@ NM_172107.3(KCNQ2):c.608T>C (p.Leu203Pro) http://identifiers.org/clinvar/369753 ^@ NM_172107.3(KCNQ2):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/369752 ^@ NM_172107.3(KCNQ2):c.592_594delCGGinsA (p.Arg198Lysfs) http://identifiers.org/clinvar/369751 ^@ NM_172107.3(KCNQ2):c.566G>T (p.Gly189Val) http://identifiers.org/clinvar/369748 ^@ NM_172107.3(KCNQ2):c.523G>C (p.Val175Leu) http://identifiers.org/clinvar/369747 ^@ NM_172107.3(KCNQ2):c.476G>A (p.Gly159Glu) http://identifiers.org/clinvar/369746 ^@ NM_172107.3(KCNQ2):c.475G>A (p.Gly159Arg) http://identifiers.org/clinvar/369744 ^@ NM_172107.3(KCNQ2):c.471G>A (p.Trp157Ter) http://identifiers.org/clinvar/369743 ^@ NM_172107.3(KCNQ2):c.460T>G (p.Tyr154Asp) http://identifiers.org/clinvar/369742 ^@ NM_172107.3(KCNQ2):c.341C>T (p.Thr114Ile) http://identifiers.org/clinvar/369741 ^@ NM_172107.3(KCNQ2):c.340A>G (p.Thr114Ala) http://identifiers.org/clinvar/369740 ^@ NM_172107.2:c.1-?c.993+?del http://identifiers.org/clinvar/369745 ^@ NM_172107.2:c.474-940_c.1424+1582del http://identifiers.org/clinvar/369749 ^@ NM_172107.2:c.565-682_c.1295+?del http://identifiers.org/clinvar/369750 ^@ NM_172107.2:c.565-?c.1478+? http://identifiers.org/clinvar/369787 ^@ c.1228_1230del http://identifiers.org/clinvar/369790 ^@ c.1228_1230del http://identifiers.org/clinvar/369793 ^@ NM_172107.2:c.1264G>A http://identifiers.org/clinvar/369796 ^@ NM_172107.2:c.1479-768_c.1940+579del3018bp http://identifiers.org/clinvar/369803 ^@ NM_172107.2:c.1652T>C http://identifiers.org/clinvar/369808 ^@ NM_172107.2:c.[1734G>A:1735C>A] http://identifiers.org/clinvar/369814 ^@ NM_172107.2:c.2318_2319dupG http://identifiers.org/clinvar/369832 ^@ NC_000009.11:g.(?_140862504)_(140994780_?)dup http://identifiers.org/clinvar/369833 ^@ NC_000015.9:g.(?_84789775)_(85710777_?)dup http://identifiers.org/clinvar/369834 ^@ NC_000010.10:g.(?_68738624)_(68926461_?)dup http://identifiers.org/clinvar/369835 ^@ NC_000015.9:g.(?_59297293)_(102480888_?)dup http://identifiers.org/clinvar/369836 ^@ NC_000018.9:g.(?_59461447)_(78010032_?)del http://identifiers.org/clinvar/369837 ^@ NC_000017.10:g.(?_38456598)_(38456659_?)del http://identifiers.org/clinvar/369846 ^@ NM_170784.2(MKKS):c.1334T>G (p.Leu445Ter) http://identifiers.org/clinvar/369847 ^@ NC_000022.10:g.26995597_27074524dup78928 http://identifiers.org/clinvar/369875 ^@ NM_174936.3(PCSK9):c.1251C>A (p.H417Q) http://identifiers.org/clinvar/369876 ^@ NM_174936.3(PCSK9):c.1537A>G (p.N513D) http://identifiers.org/clinvar/369877 ^@ NM_174936.3(PCSK9):c.1948G>A (p.V650I) http://identifiers.org/clinvar/369883 ^@ NM_000384.2(APOB):c.13160A>T (p.E4387V) http://identifiers.org/clinvar/369878 ^@ NM_000384.2(APOB):c.11965C>T (p.R3989C) http://identifiers.org/clinvar/369881 ^@ NM_000384.2(APOB):c.10780T>C (p.W3594R) http://identifiers.org/clinvar/369882 ^@ NM_000384.2(APOB):c.10061C>G (p.A3354G) http://identifiers.org/clinvar/369884 ^@ NM_000384.2(APOB):c.7330C>T (p.R2444C) http://identifiers.org/clinvar/369880 ^@ NM_000384.2(APOB):c.1198C>T (p.R400C) http://identifiers.org/clinvar/369879 ^@ NM_000384.2(APOB):c.830G>T (p.G277V) http://identifiers.org/clinvar/369864 ^@ NM_000527.4(LDLR):c.14_15insCTTTC (p.W6Ffs*201) http://identifiers.org/clinvar/369858 ^@ NM_000527.4(LDLR):c.68-1G>A http://identifiers.org/clinvar/369857 ^@ NM_000527.4(LDLR):c.165C>G (p.G55G) http://identifiers.org/clinvar/369866 ^@ NM_000527.4(LDLR):c.233delG (p.R78Lfs*127) http://identifiers.org/clinvar/369854 ^@ NM_000527.4(LDLR):c.299A>T (p.D100V) http://identifiers.org/clinvar/369870 ^@ NM_000527.4(LDLR):c.340_344delTTTCG (p.F114Lfs*13) http://identifiers.org/clinvar/369871 ^@ NM_000527.4(LDLR):c.370dupC (p.Arg124Profs) http://identifiers.org/clinvar/369851 ^@ NM_000527.4(LDLR):c.428G>C (p.C143S) http://identifiers.org/clinvar/369873 ^@ NM_000527.4(LDLR):c.467delA (p.N156Tfs*49) http://identifiers.org/clinvar/369850 ^@ NM_000527.4(LDLR):c.520G>T (p.E174*) http://identifiers.org/clinvar/369859 ^@ NM_000527.4(LDLR):c.695-1G>A http://identifiers.org/clinvar/369863 ^@ NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) http://identifiers.org/clinvar/369867 ^@ NM_000527.4(LDLR):c.905delG (p.C302Sfs*67) http://identifiers.org/clinvar/369860 ^@ NM_000527.4(LDLR):c.1060+2T>G http://identifiers.org/clinvar/369861 ^@ NM_000527.4(LDLR):c.1060+9C>T http://identifiers.org/clinvar/369852 ^@ NM_000527.4(LDLR):c.1091G>A (p.C364Y) http://identifiers.org/clinvar/369848 ^@ NM_000527.4(LDLR):c.1102T>C (p.C368R) http://identifiers.org/clinvar/369853 ^@ NM_000527.4(LDLR):c.1255T>G (p.Y419D) http://identifiers.org/clinvar/369862 ^@ NM_000527.4(LDLR):c.1358+2T>C http://identifiers.org/clinvar/369856 ^@ NM_000527.4(LDLR):c.1408A>G (p.S470G) http://identifiers.org/clinvar/369855 ^@ NM_000527.4(LDLR):c.1868T>C (p.I623T) http://identifiers.org/clinvar/369872 ^@ NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) http://identifiers.org/clinvar/369869 ^@ NM_000527.4(LDLR):c.1911delC (p.S637Sfs*27) http://identifiers.org/clinvar/369849 ^@ NM_000527.4(LDLR):c.2167G>T (p.E723*) http://identifiers.org/clinvar/369874 ^@ NC_000019.10:g.11077743_11093597del15855 http://identifiers.org/clinvar/369938 ^@ NM_023067.3(FOXL2):c.1011delC (p.Thr338Profs) http://identifiers.org/clinvar/369937 ^@ NM_023067.3(FOXL2):c.982delG (p.Ala328Profs) http://identifiers.org/clinvar/369936 ^@ NM_023067.3(FOXL2):c.951_961dupGCCGCCGGGCC (p.Gln321Argfs) http://identifiers.org/clinvar/369935 ^@ NM_023067.3(FOXL2):c.907_926dup20 (p.His312Argfs) http://identifiers.org/clinvar/369934 ^@ NM_023067.3(FOXL2):c.892dupC (p.His298Profs) http://identifiers.org/clinvar/369932 ^@ NM_023067.3(FOXL2):c.840_871del32 (p.Ala283Serfs) http://identifiers.org/clinvar/369933 ^@ NM_023067.3(FOXL2):c.856_857delCCinsA (p.Pro286Ilefs) http://identifiers.org/clinvar/369931 ^@ NM_023067.3(FOXL2):c.827dupG (p.Leu277Profs) http://identifiers.org/clinvar/369930 ^@ NM_023067.3(FOXL2):c.804delC (p.Gly269Alafs) http://identifiers.org/clinvar/369929 ^@ NM_023067.3(FOXL2):c.799C>A (p.Pro267Thr) http://identifiers.org/clinvar/369928 ^@ NM_023067.3(FOXL2):c.777dupA (p.Arg260Thrfs) http://identifiers.org/clinvar/369927 ^@ NM_023067.3(FOXL2):c.748_749delGG (p.Gly250Profs) http://identifiers.org/clinvar/369926 ^@ NM_023067.3(FOXL2):c.678_705del28 (p.Ala227Profs) http://identifiers.org/clinvar/369925 ^@ NM_023067.3(FOXL2):c.674_703dup30 (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/369924 ^@ NM_023067.3(FOXL2):c.674_695del22 (p.Ala225Glufs) http://identifiers.org/clinvar/369923 ^@ NM_023067.3(FOXL2):c.663_692dup30 (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/369922 ^@ NM_023067.3(FOXL2):c.662_689del28 (p.Ala221Glyfs) http://identifiers.org/clinvar/369921 ^@ NM_023067.3(FOXL2):c.656A>T (p.Gln219Leu) http://identifiers.org/clinvar/369917 ^@ NM_023067.3(FOXL2):c.630_651dup22 (p.Cys218Leufs) http://identifiers.org/clinvar/369920 ^@ NM_023067.3(FOXL2):c.647C>T (p.Ala216Val) http://identifiers.org/clinvar/369919 ^@ NM_023067.3(FOXL2):c.644A>G (p.Tyr215Cys) http://identifiers.org/clinvar/369918 ^@ NM_023067.3(FOXL2):c.632C>A (p.Ser211Ter) http://identifiers.org/clinvar/369916 ^@ NM_023067.3(FOXL2):c.618delA (p.Pro207Argfs) http://identifiers.org/clinvar/369915 ^@ NM_023067.3(FOXL2):c.612G>A (p.Trp204Ter) http://identifiers.org/clinvar/369914 ^@ NM_023067.3(FOXL2):c.582C>G (p.Tyr194Ter) http://identifiers.org/clinvar/369913 ^@ NM_023067.3(FOXL2):c.578A>G (p.Lys193Arg) http://identifiers.org/clinvar/369912 ^@ NM_023067.3(FOXL2):c.576dupC (p.Lys193Glnfs) http://identifiers.org/clinvar/369909 ^@ NM_023067.3(FOXL2):c.353_476dup124 (p.His159Glnfs) http://identifiers.org/clinvar/369911 ^@ NM_023067.3(FOXL2):c.389T>C (p.Leu130Pro) http://identifiers.org/clinvar/369910 ^@ NM_023067.3(FOXL2):c.389T>A (p.Leu130Gln) http://identifiers.org/clinvar/369908 ^@ NM_023067.3(FOXL2):c.340A>G (p.Lys114Glu) http://identifiers.org/clinvar/369907 ^@ NM_023067.3(FOXL2):c.338delT (p.Ile113Thrfs) http://identifiers.org/clinvar/369906 ^@ NM_023067.3(FOXL2):c.319A>G (p.Ser107Gly) http://identifiers.org/clinvar/369904 ^@ NM_023067.3(FOXL2):c.314_319delACCTCA (p.Asn105_Leu106del) http://identifiers.org/clinvar/369905 ^@ NM_023067.3(FOXL2):c.316C>T (p.Leu106Phe) http://identifiers.org/clinvar/369903 ^@ NM_023067.3(FOXL2):c.313_315delAAC (p.Asn105del) http://identifiers.org/clinvar/369902 ^@ NM_023067.3(FOXL2):c.311A>G (p.His104Arg) http://identifiers.org/clinvar/369901 ^@ NM_023067.3(FOXL2):c.308G>T (p.Arg103Leu) http://identifiers.org/clinvar/369900 ^@ NM_023067.3(FOXL2):c.308G>A (p.Arg103His) http://identifiers.org/clinvar/369899 ^@ NM_023067.3(FOXL2):c.303C>G (p.Ser101Arg) http://identifiers.org/clinvar/369898 ^@ NM_023067.3(FOXL2):c.293G>A (p.Trp98Ter) http://identifiers.org/clinvar/369897 ^@ NM_023067.3(FOXL2):c.292T>C (p.Trp98Arg) http://identifiers.org/clinvar/369896 ^@ NM_023067.3(FOXL2):c.256G>C (p.Ala86Pro) http://identifiers.org/clinvar/369895 ^@ NM_023067.3(FOXL2):c.233C>A (p.Ser78Tyr) http://identifiers.org/clinvar/369894 ^@ NM_023067.3(FOXL2):c.208A>G (p.Ser70Gly) http://identifiers.org/clinvar/369893 ^@ NM_023067.3(FOXL2):c.205G>T (p.Glu69Ter) http://identifiers.org/clinvar/369890 ^@ NM_023067.3(FOXL2):c.184_198dupCTCATCGCCATGGCG (p.Ala66_Ile67insLeuIleAlaMetAla) http://identifiers.org/clinvar/369892 ^@ NM_023067.3(FOXL2):c.195G>A (p.Met65Ile) http://identifiers.org/clinvar/369891 ^@ NM_023067.3(FOXL2):c.187A>C (p.Ile63Leu) http://identifiers.org/clinvar/369889 ^@ NM_023067.3(FOXL2):c.173C>A (p.Ser58Ter) http://identifiers.org/clinvar/369888 ^@ NM_023067.3(FOXL2):c.171C>G (p.Tyr57Ter) http://identifiers.org/clinvar/369887 ^@ NM_023067.3(FOXL2):c.43delC (p.Leu15Cysfs) http://identifiers.org/clinvar/369886 ^@ NM_023067.3(FOXL2):c.15C>A (p.Tyr5Ter) http://identifiers.org/clinvar/369885 ^@ NM_005249.4(FOXG1):c.554G>T (p.Ser185Ile) http://identifiers.org/clinvar/369954 ^@ NM_178454.4(DRAM2):c.568G>T (p.Glu190Ter) http://identifiers.org/clinvar/369968 ^@ NM_000085.4(CLCNKB):c.1381dupA (p.Ile461Asnfs) http://identifiers.org/clinvar/369948 ^@ NM_002389.4(CD46):c.542_543delTT (p.Phe181Terfs) http://identifiers.org/clinvar/369941 ^@ NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) http://identifiers.org/clinvar/369962 ^@ NM_000092.4(COL4A4):c.81_86delACTCAT (p.Ile29_Leu30del) http://identifiers.org/clinvar/369964 ^@ NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) http://identifiers.org/clinvar/369945 ^@ NM_000091.4(COL4A3):c.2115T>A (p.Pro705=) http://identifiers.org/clinvar/369965 ^@ NM_000091.4(COL4A3):c.3244_3247delAAAG (p.Lys1082Glufs) http://identifiers.org/clinvar/369939 ^@ NM_000091.4(COL4A3):c.3416C>T (p.Pro1139Leu) http://identifiers.org/clinvar/369970 ^@ NM_001710.5(CFB):c.1217G>A (p.Arg406Gln) http://identifiers.org/clinvar/369946 ^@ NM_001710.5(CFB):c.1861G>A (p.Glu621Lys) http://identifiers.org/clinvar/369960 ^@ NM_138694.3(PKHD1):c.8951G>C (p.Gly2984Ala) http://identifiers.org/clinvar/369955 ^@ NM_002316.3(LMX1B):c.192dupC (p.Asp65Argfs) http://identifiers.org/clinvar/369969 ^@ NM_004523.3(KIF11):c.2341C>T (p.Gln781Ter) http://identifiers.org/clinvar/369947 ^@ NM_032667.6(BSCL2):c.1125C>A (p.Val375=) http://identifiers.org/clinvar/369942 ^@ NM_003482.3(KMT2D):c.7249T>G (p.Ser2417Ala) http://identifiers.org/clinvar/369959 ^@ NM_001009944.2(PKD1):c.10817T>G (p.Leu3606Arg) http://identifiers.org/clinvar/369961 ^@ NM_001009944.2(PKD1):c.9755_9757delAGC (p.Glu3252_Leu3253delinsVal) http://identifiers.org/clinvar/369967 ^@ NM_001009944.2(PKD1):c.3543T>A (p.Tyr1181Ter) http://identifiers.org/clinvar/369953 ^@ NM_001297.4(CNGB1):c.2893-7G>A http://identifiers.org/clinvar/369950 ^@ NM_001080442.2(SLC38A8):c.806-3C>G http://identifiers.org/clinvar/369956 ^@ NM_001042492.2(NF1):c.15delG (p.Arg5Serfs) http://identifiers.org/clinvar/369943 ^@ NM_000152.3(GAA):c.1636+460_2672del http://identifiers.org/clinvar/369944 ^@ NM_000152.4(GAA):c.2704_2716dupCAGAAGGTGACTG (p.Val906Alafs) http://identifiers.org/clinvar/369951 ^@ NM_020964.2(EPG5):c.6752delT (p.Val2251Alafs) http://identifiers.org/clinvar/369966 ^@ NM_000214.2(JAG1):c.3064C>T (p.Arg1022Trp) http://identifiers.org/clinvar/369949 ^@ NM_000490.4(AVP):c.131G>T (p.Cys44Phe) http://identifiers.org/clinvar/369940 ^@ NM_000495.4(COL4A5):c.3487_3488delCCinsG (p.Pro1163Glufs) http://identifiers.org/clinvar/369963 ^@ NM_000495.4(COL4A5):c.4745delA (p.Gln1582Argfs) http://identifiers.org/clinvar/369957 ^@ NM_001110556.1(FLNA):c.4450C>T (p.Gln1484Ter) http://identifiers.org/clinvar/369958 ^@ NM_005183.3(CACNA1F):c.3070-2A>G http://identifiers.org/clinvar/369952 ^@ NM_000390.3(CHM):c.189+5A>G http://identifiers.org/clinvar/369971 ^@ NM_000243.2(MEFV):c.1730C>A (p.Thr577Asn) http://identifiers.org/clinvar/369972 ^@ NM_004208.3(AIFM1):c.1436A>G (p.Gln479Arg) http://identifiers.org/clinvar/369981 ^@ NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) http://identifiers.org/clinvar/370029 ^@ NM_001278614.1(UMOD):c.589G>T (p.Glu197Ter) http://identifiers.org/clinvar/370030 ^@ NM_000276.3(OCRL):c.238+4701A>G http://identifiers.org/clinvar/370033 ^@ NM_032146.5(ARL6):c.351_353delTATinsGAAAA (p.Asp117Glufs) http://identifiers.org/clinvar/370034 ^@ NM_000295.4(SERPINA1):c.288_291delTCAC (p.His97Metfs) http://identifiers.org/clinvar/370035 ^@ NM_006912.5(RIT1):c.246T>A (p.Phe82Leu) http://identifiers.org/clinvar/370042 ^@ NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/370053 ^@ NC_012920.1:m.11815C>G http://identifiers.org/clinvar/370054 ^@ NC_012920.1:m.11896C>G http://identifiers.org/clinvar/370055 ^@ NC_012920.1:m.12010C>T http://identifiers.org/clinvar/370056 ^@ NC_012920.1:m.12013A>G http://identifiers.org/clinvar/370057 ^@ NC_012920.1:m.12018C>G http://identifiers.org/clinvar/370058 ^@ NC_012920.1:m.13713C>A http://identifiers.org/clinvar/370059 ^@ NC_012920.1:m.14563C>T http://identifiers.org/clinvar/370060 ^@ NC_012920.1:m.14706A>G http://identifiers.org/clinvar/370061 ^@ NC_012920.1:m.14854C>T http://identifiers.org/clinvar/370062 ^@ NC_012920.1:m.15060G>A http://identifiers.org/clinvar/370063 ^@ NC_012920.1:m.15096T>C http://identifiers.org/clinvar/370064 ^@ NC_012920.1:m.15127C>T http://identifiers.org/clinvar/370065 ^@ NC_012920.1:m.15246G>A http://identifiers.org/clinvar/370044 ^@ NC_012920.1:m.1655A>G http://identifiers.org/clinvar/370043 ^@ NC_012920.1:m.1661A>G http://identifiers.org/clinvar/370045 ^@ NC_012920.1:m.3275C>T http://identifiers.org/clinvar/370046 ^@ NC_012920.1:m.3624A>G http://identifiers.org/clinvar/370047 ^@ NC_012920.1:m.4664C>T http://identifiers.org/clinvar/370048 ^@ NC_012920.1:m.7373A>G http://identifiers.org/clinvar/370049 ^@ NC_012920.1:m.7496T>C http://identifiers.org/clinvar/370050 ^@ NC_012920.1:m.8418T>C http://identifiers.org/clinvar/370051 ^@ NC_012920.1:m.9166T>C http://identifiers.org/clinvar/370052 ^@ NC_012920.1:m.9237G>A http://identifiers.org/clinvar/370744 ^@ NM_001918.3(DBT):c.725C>G (p.Ser242Ter) http://identifiers.org/clinvar/371426 ^@ NM_000396.3(CTSK):c.934C>T (p.Arg312Ter) http://identifiers.org/clinvar/370960 ^@ NM_000396.3(CTSK):c.934C>G (p.Arg312Gly) http://identifiers.org/clinvar/370625 ^@ NM_000396.3(CTSK):c.679_680insAA (p.Ile227Lysfs) http://identifiers.org/clinvar/370951 ^@ NM_000396.3(CTSK):c.648delC (p.Lys217Argfs) http://identifiers.org/clinvar/371328 ^@ NM_000396.3(CTSK):c.568C>T (p.Gln190Ter) http://identifiers.org/clinvar/370610 ^@ NM_000396.3(CTSK):c.423_450del28 (p.Phe142Asnfs) http://identifiers.org/clinvar/370473 ^@ NM_000396.3(CTSK):c.426delT (p.Phe142Leufs) http://identifiers.org/clinvar/370882 ^@ NM_000396.3(CTSK):c.399+2delT http://identifiers.org/clinvar/370731 ^@ NM_000396.3(CTSK):c.395dupA (p.Asn132Lysfs) http://identifiers.org/clinvar/371513 ^@ NM_000396.3(CTSK):c.289_290delCT (p.Leu97Valfs) http://identifiers.org/clinvar/371429 ^@ NM_000396.3(CTSK):c.243+1G>A http://identifiers.org/clinvar/370345 ^@ NM_000396.3(CTSK):c.213T>A (p.Tyr71Ter) http://identifiers.org/clinvar/370558 ^@ NM_000396.3(CTSK):c.121-2A>G http://identifiers.org/clinvar/371447 ^@ NM_000396.3(CTSK):c.120+1G>A http://identifiers.org/clinvar/370816 ^@ NM_000396.3(CTSK):c.48delG (p.Tyr17Thrfs) http://identifiers.org/clinvar/371412 ^@ NM_000396.3(CTSK):c.26T>C (p.Leu9Pro) http://identifiers.org/clinvar/371240 ^@ NM_000396.3(CTSK):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/370964 ^@ NM_014625.3(NPHS2):c.1062dupC (p.Asn355Glnfs) http://identifiers.org/clinvar/371673 ^@ NM_014625.3(NPHS2):c.964C>T (p.Arg322Ter) http://identifiers.org/clinvar/370718 ^@ NM_014625.3(NPHS2):c.890C>T (p.Ala297Val) http://identifiers.org/clinvar/371301 ^@ NM_014625.3(NPHS2):c.859C>T (p.Gln287Ter) http://identifiers.org/clinvar/370486 ^@ NM_014625.3(NPHS2):c.795-1G>A http://identifiers.org/clinvar/370340 ^@ NM_014625.3(NPHS2):c.685C>T (p.Arg229Ter) http://identifiers.org/clinvar/370159 ^@ NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/370315 ^@ NM_014625.3(NPHS2):c.369delC (p.Cys124Alafs) http://identifiers.org/clinvar/370759 ^@ NM_014625.3(NPHS2):c.138_142dupGGGCT (p.Ser48Trpfs) http://identifiers.org/clinvar/370936 ^@ NM_014625.3(NPHS2):c.95_96insTA (p.Gly33Thrfs) http://identifiers.org/clinvar/370679 ^@ NM_014625.3(NPHS2):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/371173 ^@ NM_005562.2(LAMC2):c.80-2A>G http://identifiers.org/clinvar/370838 ^@ NM_005562.2(LAMC2):c.134_137delGACA (p.Arg45Lysfs) http://identifiers.org/clinvar/371541 ^@ NM_005562.2(LAMC2):c.146_150dupATGGA (p.Phe51Metfs) http://identifiers.org/clinvar/370158 ^@ NM_005562.2(LAMC2):c.268+1G>A http://identifiers.org/clinvar/370336 ^@ NM_005562.2(LAMC2):c.503+1G>C http://identifiers.org/clinvar/371322 ^@ NM_005562.2(LAMC2):c.537delG (p.Asn180Thrfs) http://identifiers.org/clinvar/370380 ^@ NM_005562.2(LAMC2):c.559_560insAA (p.Cys187Terfs) http://identifiers.org/clinvar/370245 ^@ NM_005562.2(LAMC2):c.709C>T (p.Gln237Ter) http://identifiers.org/clinvar/370082 ^@ NM_005562.2(LAMC2):c.877_878delGG (p.Gly293Serfs) http://identifiers.org/clinvar/371549 ^@ NM_005562.2(LAMC2):c.1715-1G>C http://identifiers.org/clinvar/370436 ^@ NM_005562.2(LAMC2):c.1858-1G>A http://identifiers.org/clinvar/370537 ^@ NM_005562.2(LAMC2):c.1970_1971delAG (p.Glu657Alafs) http://identifiers.org/clinvar/371316 ^@ NM_005562.2(LAMC2):c.2006_2012delTTTCAGA (p.Ile669Lysfs) http://identifiers.org/clinvar/371486 ^@ NM_005562.2(LAMC2):c.2348delA (p.Glu783Glyfs) http://identifiers.org/clinvar/370298 ^@ NM_005562.2(LAMC2):c.2389_2392delCTGC (p.Leu797Metfs) http://identifiers.org/clinvar/370734 ^@ NM_005562.2(LAMC2):c.2541_2542delCA (p.His847Glnfs) http://identifiers.org/clinvar/371006 ^@ NM_005562.2(LAMC2):c.2929_2930delTC (p.Ser977Leufs) http://identifiers.org/clinvar/371294 ^@ NM_005562.2(LAMC2):c.3147dupG (p.Lys1050Glufs) http://identifiers.org/clinvar/370421 ^@ NM_005562.2(LAMC2):c.3357delG (p.Leu1120Trpfs) http://identifiers.org/clinvar/370953 ^@ NM_005562.2(LAMC2):c.3385C>T (p.Arg1129Ter) http://identifiers.org/clinvar/370323 ^@ NM_000228.2(LAMB3):c.3517_3518delTG (p.Ter1173Metfs) http://identifiers.org/clinvar/370778 ^@ NM_000228.2(LAMB3):c.3119G>A (p.Trp1040Ter) http://identifiers.org/clinvar/370774 ^@ NM_000228.2(LAMB3):c.3034C>T (p.Gln1012Ter) http://identifiers.org/clinvar/370321 ^@ NM_000228.2(LAMB3):c.3024delT (p.Arg1009Glyfs) http://identifiers.org/clinvar/370879 ^@ NM_000228.2(LAMB3):c.2358+2T>C http://identifiers.org/clinvar/370435 ^@ NM_000228.2(LAMB3):c.2346delC (p.Thr783Profs) http://identifiers.org/clinvar/371355 ^@ NM_000228.2(LAMB3):c.2170C>T (p.Gln724Ter) http://identifiers.org/clinvar/370862 ^@ NM_000228.2(LAMB3):c.2011delC (p.Leu671Trpfs) http://identifiers.org/clinvar/370083 ^@ NM_000228.2(LAMB3):c.1823dupG (p.Ser608Argfs) http://identifiers.org/clinvar/371216 ^@ NM_000228.2(LAMB3):c.1117C>T (p.Gln373Ter) http://identifiers.org/clinvar/371462 ^@ NM_000228.2(LAMB3):c.1029_1030dupTG (p.Asp344Valfs) http://identifiers.org/clinvar/370208 ^@ NM_000228.2(LAMB3):c.1029T>A (p.Cys343Ter) http://identifiers.org/clinvar/371595 ^@ NM_000228.2(LAMB3):c.1007delA (p.Gln336Argfs) http://identifiers.org/clinvar/370121 ^@ NM_000228.2(LAMB3):c.920delG (p.Gly307Alafs) http://identifiers.org/clinvar/370844 ^@ NM_000228.2(LAMB3):c.870T>A (p.Cys290Ter) http://identifiers.org/clinvar/370503 ^@ NM_000228.2(LAMB3):c.628+1G>A http://identifiers.org/clinvar/370693 ^@ NM_000228.2(LAMB3):c.565-1G>T http://identifiers.org/clinvar/370641 ^@ NM_000228.2(LAMB3):c.565-2A>C http://identifiers.org/clinvar/371026 ^@ NM_000228.2(LAMB3):c.561delG (p.Lys188Argfs) http://identifiers.org/clinvar/370322 ^@ NM_000228.2(LAMB3):c.505C>T (p.Gln169Ter) http://identifiers.org/clinvar/370111 ^@ NM_000228.2(LAMB3):c.499_500delAG (p.Ser167Leufs) http://identifiers.org/clinvar/371422 ^@ NM_000228.2(LAMB3):c.373-2A>G http://identifiers.org/clinvar/370673 ^@ NM_000228.2(LAMB3):c.372+2T>G http://identifiers.org/clinvar/371487 ^@ NM_000228.2(LAMB3):c.298+2T>C http://identifiers.org/clinvar/370941 ^@ NM_000228.2(LAMB3):c.69_70delTG (p.Ala25Leufs) http://identifiers.org/clinvar/370095 ^@ NM_000478.5(ALPL):c.46_49delAACT (p.Asn16Profs) http://identifiers.org/clinvar/370303 ^@ NM_000478.5(ALPL):c.61+2T>G http://identifiers.org/clinvar/370232 ^@ NM_000478.5(ALPL):c.88C>T (p.Arg30Ter) http://identifiers.org/clinvar/371503 ^@ NM_000478.5(ALPL):c.114delA (p.Lys38Asnfs) http://identifiers.org/clinvar/371247 ^@ NM_000478.5(ALPL):c.129delT (p.Gln44Argfs) http://identifiers.org/clinvar/370178 ^@ NM_000478.5(ALPL):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/371477 ^@ NM_000478.5(ALPL):c.297+2T>A http://identifiers.org/clinvar/371067 ^@ NM_000478.5(ALPL):c.522delC (p.Ser175Alafs) http://identifiers.org/clinvar/371787 ^@ NM_206933.2(USH2A):c.13257_13263delCTCCCTT (p.Phe4419Leufs) http://identifiers.org/clinvar/370379 ^@ NM_000478.5(ALPL):c.662dupG (p.Gly222Trpfs) http://identifiers.org/clinvar/370489 ^@ NM_000478.5(ALPL):c.841delC (p.His281Thrfs) http://identifiers.org/clinvar/370761 ^@ NM_000478.5(ALPL):c.903delG (p.Asn302Thrfs) http://identifiers.org/clinvar/370704 ^@ NM_000478.5(ALPL):c.928_929delTC (p.Ser310Argfs) http://identifiers.org/clinvar/371591 ^@ NM_000478.5(ALPL):c.997+2T>G http://identifiers.org/clinvar/370603 ^@ NM_000478.5(ALPL):c.998-2A>G http://identifiers.org/clinvar/371504 ^@ NM_000478.5(ALPL):c.1088_1091dupGCAG (p.Ser364Argfs) http://identifiers.org/clinvar/371163 ^@ NM_000478.5(ALPL):c.1144G>A (p.Val382Ile) http://identifiers.org/clinvar/371400 ^@ NM_000478.5(ALPL):c.1363G>A (p.Gly455Ser) http://identifiers.org/clinvar/371313 ^@ NM_000478.5(ALPL):c.1426G>T (p.Glu476Ter) http://identifiers.org/clinvar/371522 ^@ NM_000478.5(ALPL):c.1530_1549del20 (p.Leu512Profs) http://identifiers.org/clinvar/371686 ^@ NM_206933.2(USH2A):c.9345_9346delAC (p.Pro3116Hisfs) http://identifiers.org/clinvar/371748 ^@ NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) http://identifiers.org/clinvar/370544 ^@ NM_000310.3(PPT1):c.821dupT (p.Met274Ilefs) http://identifiers.org/clinvar/370947 ^@ NM_000310.3(PPT1):c.653dupA (p.Asn218Lysfs) http://identifiers.org/clinvar/370716 ^@ NM_000310.3(PPT1):c.529C>T (p.Gln177Ter) http://identifiers.org/clinvar/371602 ^@ NM_000310.3(PPT1):c.362+1G>A http://identifiers.org/clinvar/370384 ^@ NM_000310.3(PPT1):c.327C>A (p.Tyr109Ter) http://identifiers.org/clinvar/371154 ^@ NM_000310.3(PPT1):c.294_297dupACTT (p.Ala100Thrfs) http://identifiers.org/clinvar/371338 ^@ NM_000310.3(PPT1):c.184delA (p.Ile62Tyrfs) http://identifiers.org/clinvar/371560 ^@ NM_000310.3(PPT1):c.124+2T>A http://identifiers.org/clinvar/371233 ^@ NM_000310.3(PPT1):c.48_54delATGGACC (p.Trp17Alafs) http://identifiers.org/clinvar/371280 ^@ NM_000310.3(PPT1):c.8C>A (p.Ser3Ter) http://identifiers.org/clinvar/371574 ^@ NM_005373.2(MPL):c.127C>T (p.Arg43Ter) http://identifiers.org/clinvar/371681 ^@ NM_001048171.1(MUTYH):c.1435-1G>A http://identifiers.org/clinvar/371676 ^@ NM_001048171.1(MUTYH):c.1036delA (p.Arg346Glufs) http://identifiers.org/clinvar/371680 ^@ NM_001048171.1(MUTYH):c.956-27G>A http://identifiers.org/clinvar/371678 ^@ NM_001048171.1(MUTYH):c.648+14C>G http://identifiers.org/clinvar/371677 ^@ NM_001128425.1(MUTYH):c.526_535delGGCCTGGGCT (p.Gly176Thrfs) http://identifiers.org/clinvar/371679 ^@ NM_001048171.1(MUTYH):c.369G>A (p.Leu123=) http://identifiers.org/clinvar/371682 ^@ NM_001048171.1(MUTYH):c.62C>T (p.Ala21Val) http://identifiers.org/clinvar/371683 ^@ NM_001048171.1(MUTYH):c.36+20C>G http://identifiers.org/clinvar/371525 ^@ NM_017739.3(POMGNT1):c.1786-2A>G http://identifiers.org/clinvar/370697 ^@ NM_017739.3(POMGNT1):c.1741_1745delATGGA (p.Met581Glufs) http://identifiers.org/clinvar/371077 ^@ NM_017739.3(POMGNT1):c.1695_1698delTTTC (p.Phe566Cysfs) http://identifiers.org/clinvar/370969 ^@ NM_017739.3(POMGNT1):c.1694_1695delCT (p.Ser565Phefs) http://identifiers.org/clinvar/371629 ^@ NM_017739.3(POMGNT1):c.1562delA (p.Lys521Serfs) http://identifiers.org/clinvar/370546 ^@ NM_017739.3(POMGNT1):c.1538_1539+2delACGT http://identifiers.org/clinvar/370335 ^@ NM_017739.3(POMGNT1):c.1284+2_1284+19del18 http://identifiers.org/clinvar/371562 ^@ NM_017739.3(POMGNT1):c.1113delC (p.Tyr372Thrfs) http://identifiers.org/clinvar/370499 ^@ NM_017739.3(POMGNT1):c.1027-2_1027-1delAG http://identifiers.org/clinvar/371038 ^@ NM_017739.3(POMGNT1):c.987delT (p.Pro330Leufs) http://identifiers.org/clinvar/370870 ^@ NM_017739.3(POMGNT1):c.880-2A>G http://identifiers.org/clinvar/370211 ^@ NM_017739.3(POMGNT1):c.879+2T>C http://identifiers.org/clinvar/371407 ^@ NM_017739.3(POMGNT1):c.875delA (p.Asp292Alafs) http://identifiers.org/clinvar/371543 ^@ NM_017739.3(POMGNT1):c.478delA (p.Met160Trpfs) http://identifiers.org/clinvar/371664 ^@ NM_017739.3(POMGNT1):c.354+1G>A http://identifiers.org/clinvar/370425 ^@ NM_017739.3(POMGNT1):c.236-1G>T http://identifiers.org/clinvar/371286 ^@ NM_017739.3(POMGNT1):c.185_186insA (p.Arg63Alafs) http://identifiers.org/clinvar/370926 ^@ NM_017739.3(POMGNT1):c.121-2A>G http://identifiers.org/clinvar/370426 ^@ NM_001243766.1(POMGNT1):c.60_63delCTGGinsGTGA (p.Ser20_Trp21delinsArgTer) http://identifiers.org/clinvar/371757 ^@ NM_000098.2(CPT2):c.54_72dup19 (p.Leu25Glyfs) http://identifiers.org/clinvar/371730 ^@ NM_000098.2(CPT2):c.75delC (p.Ser26Alafs) http://identifiers.org/clinvar/371733 ^@ NM_000098.2(CPT2):c.95delG (p.Gly32Alafs) http://identifiers.org/clinvar/371697 ^@ NM_000098.2(CPT2):c.110_111dupGC (p.Ser38Alafs) http://identifiers.org/clinvar/371734 ^@ NM_000098.2(CPT2):c.606T>A (p.Tyr202Ter) http://identifiers.org/clinvar/371762 ^@ NM_000098.2(CPT2):c.1046dupA (p.Asn349Lysfs) http://identifiers.org/clinvar/371785 ^@ NM_000098.2(CPT2):c.1053G>A (p.Trp351Ter) http://identifiers.org/clinvar/371729 ^@ NM_000098.2(CPT2):c.1345C>T (p.Gln449Ter) http://identifiers.org/clinvar/371775 ^@ NM_000098.2(CPT2):c.1345delCinsTA (p.Gln449Terfs) http://identifiers.org/clinvar/371754 ^@ NM_000098.2(CPT2):c.1359_1362delAGAA (p.Lys453Asnfs) http://identifiers.org/clinvar/371750 ^@ NM_000098.2(CPT2):c.1414C>T (p.Gln472Ter) http://identifiers.org/clinvar/371712 ^@ NM_000098.2(CPT2):c.1545_1548delCTTT (p.Phe516Serfs) http://identifiers.org/clinvar/371764 ^@ NM_000098.2(CPT2):c.1614C>A (p.Tyr538Ter) http://identifiers.org/clinvar/371707 ^@ NM_000098.2(CPT2):c.1645+2T>G http://identifiers.org/clinvar/371705 ^@ NM_000098.2(CPT2):c.1774_1775delCT (p.Leu592Glufs) http://identifiers.org/clinvar/370802 ^@ NM_000016.5(ACADM):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/370561 ^@ NM_000016.5(ACADM):c.118+1G>T http://identifiers.org/clinvar/371320 ^@ NM_000016.5(ACADM):c.173_174delAG (p.Glu58Glyfs) http://identifiers.org/clinvar/370830 ^@ NM_000016.5(ACADM):c.216+1G>T http://identifiers.org/clinvar/370428 ^@ NM_000016.5(ACADM):c.224delT (p.Val75Alafs) http://identifiers.org/clinvar/370359 ^@ NM_000016.5(ACADM):c.270_271delCA (p.Ile91Serfs) http://identifiers.org/clinvar/371544 ^@ NM_000016.5(ACADM):c.387+1G>A http://identifiers.org/clinvar/371073 ^@ NM_000016.5(ACADM):c.387+1G>T http://identifiers.org/clinvar/371546 ^@ NM_000016.5(ACADM):c.431_434delAGTA (p.Lys144Ilefs) http://identifiers.org/clinvar/370885 ^@ NM_000016.5(ACADM):c.437delT (p.Leu146Trpfs) http://identifiers.org/clinvar/370479 ^@ NM_000016.5(ACADM):c.599+2T>C http://identifiers.org/clinvar/370633 ^@ NM_000016.5(ACADM):c.709-1G>A http://identifiers.org/clinvar/370532 ^@ NM_000016.5(ACADM):c.949C>T (p.Gln317Ter) http://identifiers.org/clinvar/371224 ^@ NM_000016.5(ACADM):c.957_958delAT (p.Ser320Ilefs) http://identifiers.org/clinvar/370434 ^@ NM_000016.5(ACADM):c.959C>A (p.Ser320Ter) http://identifiers.org/clinvar/370405 ^@ NM_000016.5(ACADM):c.1045delC (p.Arg349Glufs) http://identifiers.org/clinvar/371613 ^@ NM_000016.5(ACADM):c.1073delA (p.Lys358Argfs) http://identifiers.org/clinvar/370160 ^@ NM_000016.5(ACADM):c.1114dupG (p.Ala372Glyfs) http://identifiers.org/clinvar/371122 ^@ NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter) http://identifiers.org/clinvar/370880 ^@ NM_000016.5(ACADM):c.1195-2A>T http://identifiers.org/clinvar/370956 ^@ NM_000110.3(DPYD):c.2754delT (p.Pro919Leufs) http://identifiers.org/clinvar/371384 ^@ NM_000110.3(DPYD):c.2748delG (p.Arg916Serfs) http://identifiers.org/clinvar/370928 ^@ NM_000110.3(DPYD):c.2680A>T (p.Lys894Ter) http://identifiers.org/clinvar/371215 ^@ NM_000110.3(DPYD):c.2622+1G>A http://identifiers.org/clinvar/371510 ^@ NM_000110.3(DPYD):c.2589dupA (p.Pro864Thrfs) http://identifiers.org/clinvar/371437 ^@ NM_000110.3(DPYD):c.2554C>T (p.Gln852Ter) http://identifiers.org/clinvar/370465 ^@ NM_000110.3(DPYD):c.2335_2338delACCTinsGC (p.Thr779Alafs) http://identifiers.org/clinvar/370868 ^@ NM_000110.3(DPYD):c.2286_2287insA (p.Gly763Argfs) http://identifiers.org/clinvar/370760 ^@ NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) http://identifiers.org/clinvar/370923 ^@ NM_000110.3(DPYD):c.2058+1G>C http://identifiers.org/clinvar/371596 ^@ NM_000110.3(DPYD):c.2039dupT (p.Met680Ilefs) http://identifiers.org/clinvar/371160 ^@ NM_000110.3(DPYD):c.2003delA (p.Asn668Ilefs) http://identifiers.org/clinvar/370712 ^@ NM_000110.3(DPYD):c.1970delC (p.Ser657Leufs) http://identifiers.org/clinvar/370307 ^@ NM_000110.3(DPYD):c.1863G>A (p.Trp621Ter) http://identifiers.org/clinvar/370668 ^@ NM_000110.3(DPYD):c.1831G>T (p.Glu611Ter) http://identifiers.org/clinvar/370256 ^@ NM_000110.3(DPYD):c.1727delT (p.Phe576Serfs) http://identifiers.org/clinvar/371053 ^@ NM_000110.3(DPYD):c.1681C>T (p.Arg561Ter) http://identifiers.org/clinvar/371114 ^@ NM_000110.3(DPYD):c.1671delA (p.Ser558Glnfs) http://identifiers.org/clinvar/371253 ^@ NM_000110.3(DPYD):c.1524+1G>A http://identifiers.org/clinvar/370593 ^@ NM_000110.3(DPYD):c.1518delC (p.Tyr506Terfs) http://identifiers.org/clinvar/371469 ^@ NM_000110.3(DPYD):c.1379dupG (p.Leu461Serfs) http://identifiers.org/clinvar/370715 ^@ NM_000110.3(DPYD):c.1340-2A>G http://identifiers.org/clinvar/370261 ^@ NM_000110.3(DPYD):c.1339+1G>T http://identifiers.org/clinvar/370780 ^@ NM_000110.3(DPYD):c.1316delG (p.Gly439Valfs) http://identifiers.org/clinvar/371335 ^@ NM_000110.3(DPYD):c.1311delC (p.Phe438Leufs) http://identifiers.org/clinvar/370309 ^@ NM_000110.3(DPYD):c.1109_1110delTA (p.Ile370Lysfs) http://identifiers.org/clinvar/370713 ^@ NM_000110.3(DPYD):c.910delT (p.Tyr304Ilefs) http://identifiers.org/clinvar/370698 ^@ NM_000110.3(DPYD):c.851-1G>C http://identifiers.org/clinvar/371177 ^@ NM_000110.3(DPYD):c.762+2T>C http://identifiers.org/clinvar/371334 ^@ NM_000110.3(DPYD):c.680+1G>A http://identifiers.org/clinvar/370661 ^@ NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) http://identifiers.org/clinvar/371088 ^@ NM_000110.3(DPYD):c.523delT (p.Ser175Argfs) http://identifiers.org/clinvar/370782 ^@ NM_000110.3(DPYD):c.483+1G>T http://identifiers.org/clinvar/370259 ^@ NM_000110.3(DPYD):c.322-1G>C http://identifiers.org/clinvar/370260 ^@ NM_000110.3(DPYD):c.232A>T (p.Arg78Ter) http://identifiers.org/clinvar/370757 ^@ NM_000110.3(DPYD):c.220C>T (p.Arg74Ter) http://identifiers.org/clinvar/370660 ^@ NM_000110.3(DPYD):c.208C>T (p.Arg70Ter) http://identifiers.org/clinvar/370330 ^@ NM_000110.3(DPYD):c.150+2T>A http://identifiers.org/clinvar/370476 ^@ NM_000110.3(DPYD):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/370924 ^@ NM_000642.2(AGL):c.22C>T (p.Arg8Ter) http://identifiers.org/clinvar/371162 ^@ NM_000642.2(AGL):c.64delC (p.Leu22Serfs) http://identifiers.org/clinvar/370535 ^@ NM_000642.2(AGL):c.104T>G (p.Leu35Ter) http://identifiers.org/clinvar/371533 ^@ NM_000642.2(AGL):c.140dupA (p.Tyr47Terfs) http://identifiers.org/clinvar/371401 ^@ NM_000642.2(AGL):c.276delG (p.Gln92Hisfs) http://identifiers.org/clinvar/370565 ^@ NM_000642.2(AGL):c.293+1delG http://identifiers.org/clinvar/370920 ^@ NM_000642.2(AGL):c.294-2A>T http://identifiers.org/clinvar/371500 ^@ NM_000642.2(AGL):c.294-1G>C http://identifiers.org/clinvar/370199 ^@ NM_000642.2(AGL):c.348_373del26 (p.Ala117Leufs) http://identifiers.org/clinvar/371529 ^@ NM_000642.2(AGL):c.437delG (p.Arg146Asnfs) http://identifiers.org/clinvar/370318 ^@ NM_000642.2(AGL):c.442delA (p.Arg148Glyfs) http://identifiers.org/clinvar/370418 ^@ NM_000642.2(AGL):c.672dupT (p.Ser225Terfs) http://identifiers.org/clinvar/370509 ^@ NM_000642.2(AGL):c.753_756delCAGA (p.Asp251Glufs) http://identifiers.org/clinvar/371296 ^@ NM_000642.2(AGL):c.1078C>T (p.His360Tyr) http://identifiers.org/clinvar/370750 ^@ NM_000642.2(AGL):c.1169_1172delACTA (p.Asn390Ilefs) http://identifiers.org/clinvar/371027 ^@ NM_000642.2(AGL):c.1185+1G>A http://identifiers.org/clinvar/370980 ^@ NM_000642.2(AGL):c.1400delC (p.Pro467Leufs) http://identifiers.org/clinvar/370538 ^@ NM_000642.2(AGL):c.1597_1598delCT (p.Leu533Serfs) http://identifiers.org/clinvar/370531 ^@ NM_000642.2(AGL):c.1782C>A (p.Tyr594Ter) http://identifiers.org/clinvar/370710 ^@ NM_000642.2(AGL):c.2001+2T>C http://identifiers.org/clinvar/370658 ^@ NM_000642.2(AGL):c.2011_2012delGT (p.Val671Phefs) http://identifiers.org/clinvar/371263 ^@ NM_000642.2(AGL):c.2278delA (p.Ser760Alafs) http://identifiers.org/clinvar/371632 ^@ NM_000642.2(AGL):c.2525delC (p.Pro842Glnfs) http://identifiers.org/clinvar/371074 ^@ NM_000642.2(AGL):c.2538dupT (p.Ile847Tyrfs) http://identifiers.org/clinvar/370127 ^@ NM_000642.2(AGL):c.2605C>T (p.Gln869Ter) http://identifiers.org/clinvar/371344 ^@ NM_000642.2(AGL):c.2681+1G>T http://identifiers.org/clinvar/370992 ^@ NM_000642.2(AGL):c.2929C>T (p.Arg977Ter) http://identifiers.org/clinvar/370819 ^@ NM_000642.2(AGL):c.2950-1G>A http://identifiers.org/clinvar/370197 ^@ NM_000642.2(AGL):c.3011delC (p.Pro1004Hisfs) http://identifiers.org/clinvar/371033 ^@ NM_000642.2(AGL):c.3083+2T>C http://identifiers.org/clinvar/370470 ^@ NM_000642.2(AGL):c.3363-1G>A http://identifiers.org/clinvar/371194 ^@ NM_000642.2(AGL):c.3443dupA (p.Tyr1148Terfs) http://identifiers.org/clinvar/370894 ^@ NM_000642.2(AGL):c.3554delC (p.Thr1185Lysfs) http://identifiers.org/clinvar/371112 ^@ NM_000642.2(AGL):c.3807dupT (p.Arg1270Terfs) http://identifiers.org/clinvar/371009 ^@ NM_000642.2(AGL):c.3816_3817delAG (p.Gly1273Asnfs) http://identifiers.org/clinvar/370832 ^@ NM_000642.2(AGL):c.3911dupA (p.Asn1304Lysfs) http://identifiers.org/clinvar/371606 ^@ NM_000642.2(AGL):c.4175_4176delTT (p.Phe1392Tyrfs) http://identifiers.org/clinvar/371085 ^@ NM_000642.2(AGL):c.4322_4323dupAA (p.Gly1442Lysfs) http://identifiers.org/clinvar/370674 ^@ NM_004543.4(NEB):c.8038C>T (p.Arg2680Ter) http://identifiers.org/clinvar/370249 ^@ NM_004543.4(NEB):c.7266_7268delAGGinsTC (p.Gly2423Hisfs) http://identifiers.org/clinvar/371087 ^@ NM_004543.4(NEB):c.7228-1G>A http://identifiers.org/clinvar/370777 ^@ NM_004543.4(NEB):c.6078delA (p.Lys2026Asnfs) http://identifiers.org/clinvar/371493 ^@ NM_004543.4(NEB):c.5452-2A>G http://identifiers.org/clinvar/371210 ^@ NM_004543.4(NEB):c.3987+1G>A http://identifiers.org/clinvar/370296 ^@ NM_004543.4(NEB):c.3880-1G>T http://identifiers.org/clinvar/371599 ^@ NM_004543.4(NEB):c.2415+2T>C http://identifiers.org/clinvar/371010 ^@ NM_004543.4(NEB):c.2391_2392delAG (p.Arg797Serfs) http://identifiers.org/clinvar/370748 ^@ NM_004543.4(NEB):c.1672_1674+2del5 http://identifiers.org/clinvar/371551 ^@ NM_004543.4(NEB):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/371015 ^@ NM_004328.4(BCS1L):c.245C>A (p.Ser82Ter) http://identifiers.org/clinvar/370387 ^@ NM_004328.4(BCS1L):c.349C>T (p.Arg117Ter) http://identifiers.org/clinvar/371616 ^@ NM_004328.4(BCS1L):c.418delC (p.Leu140Trpfs) http://identifiers.org/clinvar/371035 ^@ NM_004328.4(BCS1L):c.460+2T>C http://identifiers.org/clinvar/371250 ^@ NM_004328.4(BCS1L):c.556C>T (p.Arg186Ter) http://identifiers.org/clinvar/370128 ^@ NM_004328.4(BCS1L):c.607dupA (p.Arg203Lysfs) http://identifiers.org/clinvar/370831 ^@ NM_004328.4(BCS1L):c.655+1G>A http://identifiers.org/clinvar/370247 ^@ NM_004328.4(BCS1L):c.889+1G>T http://identifiers.org/clinvar/370478 ^@ NM_004328.4(BCS1L):c.973dupC (p.Arg325Profs) http://identifiers.org/clinvar/370811 ^@ NM_004328.4(BCS1L):c.1244_1245delAG (p.Glu415Valfs) http://identifiers.org/clinvar/371669 ^@ NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) http://identifiers.org/clinvar/371670 ^@ NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg) http://identifiers.org/clinvar/370958 ^@ NM_000030.2(AGXT):c.673_676delAAGG (p.Lys225Profs) http://identifiers.org/clinvar/370251 ^@ NM_000182.4(HADHA):c.2146+2T>C http://identifiers.org/clinvar/371259 ^@ NM_000182.4(HADHA):c.2071G>T (p.Glu691Ter) http://identifiers.org/clinvar/371597 ^@ NM_000182.4(HADHA):c.1915_1918delTATC (p.Tyr639Argfs) http://identifiers.org/clinvar/370726 ^@ NM_000182.4(HADHA):c.1811delG (p.Gly604Alafs) http://identifiers.org/clinvar/370079 ^@ NM_000182.4(HADHA):c.1690-2A>G http://identifiers.org/clinvar/371082 ^@ NM_000182.4(HADHA):c.1590delC (p.Lys531Serfs) http://identifiers.org/clinvar/370742 ^@ NM_000182.4(HADHA):c.1344_1345delGT (p.Phe449Terfs) http://identifiers.org/clinvar/370401 ^@ NM_000182.4(HADHA):c.1237A>T (p.Lys413Ter) http://identifiers.org/clinvar/370098 ^@ NM_000182.4(HADHA):c.1221-1G>C http://identifiers.org/clinvar/371204 ^@ NM_000182.4(HADHA):c.1202delA (p.Gln401Argfs) http://identifiers.org/clinvar/370400 ^@ NM_000182.4(HADHA):c.1086-3_1092del10 http://identifiers.org/clinvar/370523 ^@ NM_000182.4(HADHA):c.1052delA (p.Lys351Argfs) http://identifiers.org/clinvar/371450 ^@ NM_000182.4(HADHA):c.515delC (p.Pro172Leufs) http://identifiers.org/clinvar/370347 ^@ NM_000182.4(HADHA):c.453+1G>A http://identifiers.org/clinvar/370220 ^@ NM_000182.4(HADHA):c.240G>A (p.Trp80Ter) http://identifiers.org/clinvar/371639 ^@ NM_000182.4(HADHA):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/370730 ^@ NM_003494.3(DYSF):c.3517dupT (p.Ser1173Phefs) http://identifiers.org/clinvar/371657 ^@ NM_015120.4(ALMS1):c.5625delA (p.Ala1876Glnfs) http://identifiers.org/clinvar/371502 ^@ NM_000187.3(HGD):c.1201G>C (p.Glu401Gln) http://identifiers.org/clinvar/370979 ^@ NM_000187.3(HGD):c.1188+1G>T http://identifiers.org/clinvar/370890 ^@ NM_000187.3(HGD):c.1064dupG (p.Gly356Trpfs) http://identifiers.org/clinvar/371197 ^@ NM_000187.3(HGD):c.1017_1019delGAGinsTA (p.Met339Ilefs) http://identifiers.org/clinvar/371566 ^@ NM_000187.3(HGD):c.970dupG (p.Val324Glyfs) http://identifiers.org/clinvar/371206 ^@ NM_000187.3(HGD):c.956delC (p.Pro319Hisfs) http://identifiers.org/clinvar/371624 ^@ NM_000187.3(HGD):c.781dupT (p.Ser261Phefs) http://identifiers.org/clinvar/370198 ^@ NM_000187.3(HGD):c.649+2T>C http://identifiers.org/clinvar/370989 ^@ NM_000187.3(HGD):c.409delC (p.Leu137Serfs) http://identifiers.org/clinvar/370253 ^@ NM_000187.3(HGD):c.390delG (p.Ala132Leufs) http://identifiers.org/clinvar/371063 ^@ NM_000187.3(HGD):c.376_377delAA (p.Lys126Valfs) http://identifiers.org/clinvar/370977 ^@ NM_000187.3(HGD):c.346delC (p.Leu116Cysfs) http://identifiers.org/clinvar/370654 ^@ NM_000187.3(HGD):c.339_342+2del6 http://identifiers.org/clinvar/370411 ^@ NM_000187.3(HGD):c.179G>A (p.Trp60Ter) http://identifiers.org/clinvar/371563 ^@ NM_000187.3(HGD):c.177-1G>A http://identifiers.org/clinvar/370939 ^@ NM_000187.3(HGD):c.158G>A (p.Arg53Gln) http://identifiers.org/clinvar/370893 ^@ NM_000187.3(HGD):c.58delC (p.Arg20Alafs) http://identifiers.org/clinvar/370267 ^@ NM_000187.3(HGD):c.31_32delGGinsATT (p.Gly11Ilefs) http://identifiers.org/clinvar/370545 ^@ NM_000187.3(HGD):c.15+1G>A http://identifiers.org/clinvar/370258 ^@ NM_000187.3(HGD):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/371628 ^@ NM_174878.2(CLRN1):c.619C>T (p.Arg207Ter) http://identifiers.org/clinvar/370687 ^@ NM_174878.2(CLRN1):c.433+2dupT http://identifiers.org/clinvar/371376 ^@ NM_174878.2(CLRN1):c.13C>T (p.Gln5Ter) http://identifiers.org/clinvar/371272 ^@ NM_000060.4(BTD):c.43A>T (p.Arg15Ter) http://identifiers.org/clinvar/370376 ^@ NM_000060.4(BTD):c.44+1G>A http://identifiers.org/clinvar/370391 ^@ NM_000060.4(BTD):c.44+1G>C http://identifiers.org/clinvar/370613 ^@ NM_000060.4(BTD):c.44+1G>T http://identifiers.org/clinvar/371236 ^@ NM_000060.4(BTD):c.44+1delG http://identifiers.org/clinvar/370847 ^@ NM_000060.4(BTD):c.107dupA (p.Tyr36Terfs) http://identifiers.org/clinvar/370921 ^@ NM_000060.4(BTD):c.309+1G>T http://identifiers.org/clinvar/370087 ^@ NM_000060.4(BTD):c.372_375dupCATT (p.Tyr126Hisfs) http://identifiers.org/clinvar/370125 ^@ NM_000060.4(BTD):c.1129G>T (p.Glu377Ter) http://identifiers.org/clinvar/371418 ^@ NM_000060.4(BTD):c.1170_1171dupTC (p.Pro391Leufs) http://identifiers.org/clinvar/371377 ^@ NM_000060.4(BTD):c.1307_1308delAG (p.Glu436Alafs) http://identifiers.org/clinvar/371553 ^@ NM_000060.4(BTD):c.1324delG (p.Val442Serfs) http://identifiers.org/clinvar/370447 ^@ NM_000055.3(BCHE):c.1685-2A>G http://identifiers.org/clinvar/370446 ^@ NM_000055.3(BCHE):c.1684+1G>T http://identifiers.org/clinvar/371275 ^@ NM_000055.3(BCHE):c.1576C>T (p.Gln526Ter) http://identifiers.org/clinvar/370431 ^@ NM_000055.3(BCHE):c.1528G>T (p.Glu510Ter) http://identifiers.org/clinvar/371367 ^@ NM_000055.3(BCHE):c.1517+1G>T http://identifiers.org/clinvar/371014 ^@ NM_000055.3(BCHE):c.1284C>A (p.Cys428Ter) http://identifiers.org/clinvar/371460 ^@ NM_000055.3(BCHE):c.1240delC (p.Arg414Valfs) http://identifiers.org/clinvar/371372 ^@ NM_000055.3(BCHE):c.1183G>T (p.Glu395Ter) http://identifiers.org/clinvar/370388 ^@ NM_000055.3(BCHE):c.1073dupT (p.Leu358Phefs) http://identifiers.org/clinvar/370302 ^@ NM_000055.3(BCHE):c.1027dupA (p.Thr343Asnfs) http://identifiers.org/clinvar/371431 ^@ NM_000055.3(BCHE):c.1015C>T (p.Gln339Ter) http://identifiers.org/clinvar/370346 ^@ NM_000055.3(BCHE):c.895G>T (p.Glu299Ter) http://identifiers.org/clinvar/370364 ^@ NM_000055.3(BCHE):c.793delT (p.Tyr265Metfs) http://identifiers.org/clinvar/371455 ^@ NM_000055.3(BCHE):c.757G>T (p.Gly253Ter) http://identifiers.org/clinvar/370179 ^@ NM_000055.3(BCHE):c.666_667delCT (p.Phe223Trpfs) http://identifiers.org/clinvar/370854 ^@ NM_000055.3(BCHE):c.635C>T (p.Ala212Val) http://identifiers.org/clinvar/371356 ^@ NM_000055.3(BCHE):c.619C>T (p.Gln207Ter) http://identifiers.org/clinvar/370518 ^@ NM_000055.3(BCHE):c.495_498delAAGA (p.Arg166Leufs) http://identifiers.org/clinvar/370709 ^@ NM_000055.3(BCHE):c.493delG (p.Glu165Lysfs) http://identifiers.org/clinvar/371104 ^@ NM_000055.3(BCHE):c.439C>T (p.Gln147Ter) http://identifiers.org/clinvar/370809 ^@ NM_000055.3(BCHE):c.206_207delTT (p.Leu69Profs) http://identifiers.org/clinvar/371648 ^@ NM_000055.3(BCHE):c.110delA (p.Lys37Argfs) http://identifiers.org/clinvar/371554 ^@ NM_182760.3(SUMF1):c.739G>C (p.Gly247Arg) http://identifiers.org/clinvar/371439 ^@ NM_000158.3(GBE1):c.986A>G (p.Tyr329Cys) http://identifiers.org/clinvar/371491 ^@ NM_000158.3(GBE1):c.288delA (p.Gly97Glufs) http://identifiers.org/clinvar/371339 ^@ NM_152618.2(BBS12):c.1082delG (p.Gly361Valfs) http://identifiers.org/clinvar/371315 ^@ NM_000027.3(AGA):c.698+1G>T http://identifiers.org/clinvar/370606 ^@ NM_000027.3(AGA):c.537C>A (p.Cys179Ter) http://identifiers.org/clinvar/371514 ^@ NM_000027.3(AGA):c.490C>T (p.Gln164Ter) http://identifiers.org/clinvar/370266 ^@ NM_000027.3(AGA):c.473G>A (p.Trp158Ter) http://identifiers.org/clinvar/371375 ^@ NM_000027.3(AGA):c.333delT (p.Ile112Leufs) http://identifiers.org/clinvar/370533 ^@ NM_000027.3(AGA):c.127+1G>A http://identifiers.org/clinvar/371395 ^@ NM_000027.3(AGA):c.70delT (p.Ser24Profs) http://identifiers.org/clinvar/371172 ^@ NM_000027.3(AGA):c.28delC (p.Leu10Phefs) http://identifiers.org/clinvar/371140 ^@ NM_000027.3(AGA):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/370594 ^@ NM_000128.3(F11):c.25_28delCATT (p.His9Serfs) http://identifiers.org/clinvar/370747 ^@ NM_000128.3(F11):c.218+1G>A http://identifiers.org/clinvar/370221 ^@ NM_000128.3(F11):c.219G>A (p.Trp73Ter) http://identifiers.org/clinvar/371284 ^@ NM_000128.3(F11):c.291delG (p.Tyr98Ilefs) http://identifiers.org/clinvar/371555 ^@ NM_000128.3(F11):c.326-1G>A http://identifiers.org/clinvar/370695 ^@ NM_000128.3(F11):c.486-2A>G http://identifiers.org/clinvar/371238 ^@ NM_000128.3(F11):c.596-7_600del12 http://identifiers.org/clinvar/370362 ^@ NM_000128.3(F11):c.964_965delAC (p.Thr322Glnfs) http://identifiers.org/clinvar/371658 ^@ NM_000128.3(F11):c.1232_1235delCTCA (p.Thr411Argfs) http://identifiers.org/clinvar/371565 ^@ NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) http://identifiers.org/clinvar/371352 ^@ NM_000128.3(F11):c.1305-1G>A http://identifiers.org/clinvar/371138 ^@ NM_000128.3(F11):c.1390C>T (p.Gln464Ter) http://identifiers.org/clinvar/370461 ^@ NM_000128.3(F11):c.1481-1G>T http://identifiers.org/clinvar/370801 ^@ NM_000128.3(F11):c.1560dupG (p.Tyr521Valfs) http://identifiers.org/clinvar/371311 ^@ NM_000128.3(F11):c.1676_1682delTCTGTGC (p.Ile559Thrfs) http://identifiers.org/clinvar/371214 ^@ NM_000128.3(F11):c.1778C>T (p.Thr593Met) http://identifiers.org/clinvar/370342 ^@ NM_000128.3(F11):c.1789G>T (p.Glu597Ter) http://identifiers.org/clinvar/370474 ^@ NM_000232.4(SGCB):c.699_702delCATT (p.Phe233Leufs) http://identifiers.org/clinvar/370115 ^@ NM_000232.4(SGCB):c.622-2A>G http://identifiers.org/clinvar/371156 ^@ NM_000232.4(SGCB):c.551_552delAT (p.Tyr184Terfs) http://identifiers.org/clinvar/370264 ^@ NM_000232.4(SGCB):c.216_219delGTTT (p.Phe73Serfs) http://identifiers.org/clinvar/370775 ^@ NM_000232.4(SGCB):c.85A>T (p.Arg29Ter) http://identifiers.org/clinvar/371175 ^@ NM_000232.4(SGCB):c.29_33delAACAG (p.Glu10Alafs) http://identifiers.org/clinvar/371353 ^@ NM_000232.4(SGCB):c.-15_8del23 http://identifiers.org/clinvar/371398 ^@ NM_153717.2(EVC):c.802-1G>C http://identifiers.org/clinvar/371465 ^@ NM_153717.2(EVC):c.2176dupC (p.Leu726Profs) http://identifiers.org/clinvar/371607 ^@ NM_000414.3(HSD17B4):c.67C>T (p.Arg23Ter) http://identifiers.org/clinvar/370669 ^@ NM_000414.3(HSD17B4):c.296dupA (p.Asn99Lysfs) http://identifiers.org/clinvar/371042 ^@ NM_000414.3(HSD17B4):c.349+1G>T http://identifiers.org/clinvar/370202 ^@ NM_000414.3(HSD17B4):c.607_610delACAG (p.Thr203Leufs) http://identifiers.org/clinvar/370766 ^@ NM_000414.3(HSD17B4):c.709_712delTTTG (p.Phe237Argfs) http://identifiers.org/clinvar/371366 ^@ NM_000414.3(HSD17B4):c.742C>T (p.Arg248Cys) http://identifiers.org/clinvar/370147 ^@ NM_000414.3(HSD17B4):c.872C>G (p.Ser291Ter) http://identifiers.org/clinvar/371241 ^@ NM_000414.3(HSD17B4):c.973-2A>C http://identifiers.org/clinvar/370743 ^@ NM_000414.3(HSD17B4):c.1268T>G (p.Leu423Ter) http://identifiers.org/clinvar/371150 ^@ NM_000414.3(HSD17B4):c.1300_1303delGATA (p.Asp434Lysfs) http://identifiers.org/clinvar/371413 ^@ NM_000414.3(HSD17B4):c.1369A>G (p.Asn457Asp) http://identifiers.org/clinvar/370152 ^@ NM_000414.3(HSD17B4):c.1438-2A>C http://identifiers.org/clinvar/370908 ^@ NM_000414.3(HSD17B4):c.1440_1441delAG (p.Ala481Cysfs) http://identifiers.org/clinvar/371062 ^@ NM_000414.3(HSD17B4):c.1574-1G>A http://identifiers.org/clinvar/371505 ^@ NM_000414.3(HSD17B4):c.1630_1633dupGTGT (p.Leu545Cysfs) http://identifiers.org/clinvar/371008 ^@ NM_000414.3(HSD17B4):c.1717_1718delCT (p.Leu573Thrfs) http://identifiers.org/clinvar/370204 ^@ NM_000414.3(HSD17B4):c.1907delA (p.Lys636Argfs) http://identifiers.org/clinvar/371285 ^@ NM_000414.3(HSD17B4):c.1936_1940delGTAAA (p.Val646Cysfs) http://identifiers.org/clinvar/370825 ^@ NM_003060.3(SLC22A5):c.160_166dupGACGCCG (p.Ala56Glyfs) http://identifiers.org/clinvar/371182 ^@ NM_003060.3(SLC22A5):c.393+1G>A http://identifiers.org/clinvar/371227 ^@ NM_003060.3(SLC22A5):c.394-1G>T http://identifiers.org/clinvar/370784 ^@ NM_003060.3(SLC22A5):c.491C>G (p.Ser164Ter) http://identifiers.org/clinvar/370409 ^@ NM_003060.3(SLC22A5):c.498-1G>C http://identifiers.org/clinvar/370837 ^@ NM_003060.3(SLC22A5):c.825-1G>C http://identifiers.org/clinvar/371479 ^@ NM_003060.3(SLC22A5):c.1455dupC (p.Tyr486Leufs) http://identifiers.org/clinvar/370131 ^@ NM_003060.3(SLC22A5):c.1458C>G (p.Tyr486Ter) http://identifiers.org/clinvar/370975 ^@ NM_003060.3(SLC22A5):c.1547delC (p.Pro516Hisfs) http://identifiers.org/clinvar/370325 ^@ NM_003060.3(SLC22A5):c.1587-2A>G http://identifiers.org/clinvar/371383 ^@ NM_003060.3(SLC22A5):c.1587-1G>C http://identifiers.org/clinvar/371772 ^@ NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) http://identifiers.org/clinvar/371736 ^@ NM_000112.3(SLC26A2):c.188delA (p.Asp63Valfs) http://identifiers.org/clinvar/371687 ^@ NM_000112.3(SLC26A2):c.207delT (p.Phe69Leufs) http://identifiers.org/clinvar/371749 ^@ NM_000112.3(SLC26A2):c.239_243dupGCAGT (p.Pro82Alafs) http://identifiers.org/clinvar/371777 ^@ NM_000112.3(SLC26A2):c.485_486delTG (p.Val162Glyfs) http://identifiers.org/clinvar/371719 ^@ NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) http://identifiers.org/clinvar/371684 ^@ NM_000112.3(SLC26A2):c.699+2T>C http://identifiers.org/clinvar/371773 ^@ NM_000112.3(SLC26A2):c.736_739delGTCT (p.Val246Thrfs) http://identifiers.org/clinvar/371761 ^@ NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) http://identifiers.org/clinvar/371776 ^@ NM_000112.3(SLC26A2):c.918delC (p.Thr307Profs) http://identifiers.org/clinvar/371735 ^@ NM_000112.3(SLC26A2):c.922delA (p.Ser308Alafs) http://identifiers.org/clinvar/371786 ^@ NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) http://identifiers.org/clinvar/371704 ^@ NM_000112.3(SLC26A2):c.1311dupT (p.Ala438Cysfs) http://identifiers.org/clinvar/371745 ^@ NM_000112.3(SLC26A2):c.1338delA (p.Glu447Asnfs) http://identifiers.org/clinvar/371758 ^@ NM_000112.3(SLC26A2):c.1537_1541dupGTTAT (p.Ile514Metfs) http://identifiers.org/clinvar/371717 ^@ NM_000112.3(SLC26A2):c.1649delA (p.Lys550Argfs) http://identifiers.org/clinvar/371783 ^@ NM_000112.3(SLC26A2):c.1806_1809delAACT (p.Thr603Serfs) http://identifiers.org/clinvar/371708 ^@ NM_000112.3(SLC26A2):c.1955_1958delACTG (p.Asp652Alafs) http://identifiers.org/clinvar/371722 ^@ NM_000112.3(SLC26A2):c.1982delC (p.Thr661Lysfs) http://identifiers.org/clinvar/371760 ^@ NM_000112.3(SLC26A2):c.1998_1999delAC (p.Leu667Glufs) http://identifiers.org/clinvar/371561 ^@ NM_006261.4(PROP1):c.557delC (p.Ala186Valfs) http://identifiers.org/clinvar/371125 ^@ NM_006261.4(PROP1):c.390_391delAC (p.Leu131Alafs) http://identifiers.org/clinvar/371145 ^@ NM_006261.4(PROP1):c.343-2A>T http://identifiers.org/clinvar/370872 ^@ NM_006261.4(PROP1):c.288_289delCT (p.Ile96Metfs) http://identifiers.org/clinvar/371631 ^@ NM_006261.4(PROP1):c.197dupC (p.His67Alafs) http://identifiers.org/clinvar/370889 ^@ NM_006261.4(PROP1):c.110-2A>G http://identifiers.org/clinvar/371445 ^@ NM_014244.4(ADAMTS2):c.2458-6_2458del7 http://identifiers.org/clinvar/371025 ^@ NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) http://identifiers.org/clinvar/370629 ^@ NM_000288.3(PEX7):c.13_19dupTGCGGTG (p.Gly7Valfs) http://identifiers.org/clinvar/371045 ^@ NM_000288.3(PEX7):c.31_56del26 (p.Met11Leufs) http://identifiers.org/clinvar/370938 ^@ NM_000288.3(PEX7):c.60C>G (p.Tyr20Ter) http://identifiers.org/clinvar/370746 ^@ NM_000288.3(PEX7):c.81C>G (p.Tyr27Ter) http://identifiers.org/clinvar/370520 ^@ NM_000288.3(PEX7):c.130+1G>C http://identifiers.org/clinvar/370682 ^@ NM_000288.3(PEX7):c.277C>T (p.Gln93Ter) http://identifiers.org/clinvar/371661 ^@ NM_000288.3(PEX7):c.334C>T (p.Gln112Ter) http://identifiers.org/clinvar/371166 ^@ NM_000288.3(PEX7):c.339+2T>C http://identifiers.org/clinvar/370867 ^@ NM_000288.3(PEX7):c.508delT (p.Cys170Valfs) http://identifiers.org/clinvar/371524 ^@ NM_000288.3(PEX7):c.527-2A>G http://identifiers.org/clinvar/370543 ^@ NM_000288.3(PEX7):c.545dupT (p.Trp183Metfs) http://identifiers.org/clinvar/371080 ^@ NM_000288.3(PEX7):c.633+1G>A http://identifiers.org/clinvar/371420 ^@ NM_000288.3(PEX7):c.736_747+17del29 http://identifiers.org/clinvar/370873 ^@ NM_000288.3(PEX7):c.748-2A>G http://identifiers.org/clinvar/370864 ^@ NM_000288.3(PEX7):c.774_784delGGCCTCTTGCT (p.Ala259Valfs) http://identifiers.org/clinvar/371506 ^@ NM_138694.3(PKHD1):c.11776delG (p.Val3926Trpfs) http://identifiers.org/clinvar/370289 ^@ NM_138694.3(PKHD1):c.11314C>T (p.Arg3772Ter) http://identifiers.org/clinvar/371152 ^@ NM_138694.3(PKHD1):c.10972_10973delAT (p.Ile3658Leufs) http://identifiers.org/clinvar/370644 ^@ NM_138694.3(PKHD1):c.10826delA (p.Lys3609Argfs) http://identifiers.org/clinvar/370246 ^@ NM_138694.3(PKHD1):c.10709C>G (p.Ser3570Ter) http://identifiers.org/clinvar/371508 ^@ NM_138694.3(PKHD1):c.10461dupG (p.Asn3488Glufs) http://identifiers.org/clinvar/370876 ^@ NM_138694.3(PKHD1):c.10418delT (p.Phe3473Serfs) http://identifiers.org/clinvar/371409 ^@ NM_138694.3(PKHD1):c.10199dupT (p.Met3400Ilefs) http://identifiers.org/clinvar/371268 ^@ NM_138694.3(PKHD1):c.10186_10190delTACCA (p.Tyr3396Ilefs) http://identifiers.org/clinvar/371184 ^@ NM_138694.3(PKHD1):c.10109dupT (p.Phe3371Ilefs) http://identifiers.org/clinvar/370453 ^@ NM_138694.3(PKHD1):c.9901G>T (p.Glu3301Ter) http://identifiers.org/clinvar/371547 ^@ NM_138694.3(PKHD1):c.9856_9859dupAGTT (p.Cys3287Terfs) http://identifiers.org/clinvar/370678 ^@ NM_138694.3(PKHD1):c.9743delT (p.Phe3248Serfs) http://identifiers.org/clinvar/370548 ^@ NM_138694.3(PKHD1):c.9718C>T (p.Arg3240Ter) http://identifiers.org/clinvar/370381 ^@ NM_138694.3(PKHD1):c.9683C>A (p.Ser3228Ter) http://identifiers.org/clinvar/370339 ^@ NM_138694.3(PKHD1):c.9470_9473dupCCAT (p.Met3158Ilefs) http://identifiers.org/clinvar/371587 ^@ NM_138694.3(PKHD1):c.8958delT (p.Gln2987Asnfs) http://identifiers.org/clinvar/371402 ^@ NM_138694.3(PKHD1):c.8832delT (p.Arg2945Valfs) http://identifiers.org/clinvar/370457 ^@ NM_138694.3(PKHD1):c.8764_8765delAG (p.Arg2922Aspfs) http://identifiers.org/clinvar/370799 ^@ NM_138694.3(PKHD1):c.8162delC (p.Pro2721Glnfs) http://identifiers.org/clinvar/370439 ^@ NM_138694.3(PKHD1):c.8050C>T (p.Gln2684Ter) http://identifiers.org/clinvar/370585 ^@ NM_138694.3(PKHD1):c.7893delG (p.Trp2631Terfs) http://identifiers.org/clinvar/370690 ^@ NM_138694.3(PKHD1):c.7866delC (p.Tyr2623Thrfs) http://identifiers.org/clinvar/371193 ^@ NM_138694.3(PKHD1):c.7713delT (p.His2572Ilefs) http://identifiers.org/clinvar/370767 ^@ NM_138694.3(PKHD1):c.7696G>T (p.Gly2566Ter) http://identifiers.org/clinvar/370559 ^@ NM_138694.3(PKHD1):c.7350+1G>T http://identifiers.org/clinvar/370569 ^@ NM_138694.3(PKHD1):c.7270delG (p.Asp2424Ilefs) http://identifiers.org/clinvar/370085 ^@ NM_138694.3(PKHD1):c.7084C>T (p.Gln2362Ter) http://identifiers.org/clinvar/370377 ^@ NM_138694.3(PKHD1):c.6910C>T (p.Gln2304Ter) http://identifiers.org/clinvar/371614 ^@ NM_138694.3(PKHD1):c.6861delA (p.Asp2288Metfs) http://identifiers.org/clinvar/370708 ^@ NM_138694.3(PKHD1):c.6526A>T (p.Lys2176Ter) http://identifiers.org/clinvar/371577 ^@ NM_138694.3(PKHD1):c.6122-3_6122-1delTAGinsA http://identifiers.org/clinvar/370835 ^@ NM_138694.3(PKHD1):c.6091delG (p.Ala2031Leufs) http://identifiers.org/clinvar/370333 ^@ NM_138694.3(PKHD1):c.5752-2A>G http://identifiers.org/clinvar/370239 ^@ NM_138694.3(PKHD1):c.5513A>G (p.Tyr1838Cys) http://identifiers.org/clinvar/371036 ^@ NM_138694.3(PKHD1):c.5485C>T (p.Gln1829Ter) http://identifiers.org/clinvar/370692 ^@ NM_138694.3(PKHD1):c.5452C>T (p.Gln1818Ter) http://identifiers.org/clinvar/370942 ^@ NM_138694.3(PKHD1):c.4890delG (p.Asn1631Metfs) http://identifiers.org/clinvar/371295 ^@ NM_138694.3(PKHD1):c.4882C>G (p.Pro1628Ala) http://identifiers.org/clinvar/370609 ^@ NM_138694.3(PKHD1):c.4822_4823delAT (p.Ile1608Terfs) http://identifiers.org/clinvar/370138 ^@ NM_138694.3(PKHD1):c.4593dupT (p.Asn1532Terfs) http://identifiers.org/clinvar/370691 ^@ NM_138694.3(PKHD1):c.4574delC (p.Pro1525Leufs) http://identifiers.org/clinvar/370297 ^@ NM_138694.3(PKHD1):c.4557delT (p.Phe1519Leufs) http://identifiers.org/clinvar/371324 ^@ NM_138694.3(PKHD1):c.4141delG (p.Val1381Cysfs) http://identifiers.org/clinvar/370567 ^@ NM_138694.3(PKHD1):c.4121delG (p.Gly1374Aspfs) http://identifiers.org/clinvar/371441 ^@ NM_138694.3(PKHD1):c.3940delA (p.Ser1314Alafs) http://identifiers.org/clinvar/370781 ^@ NM_138694.3(PKHD1):c.3694_3725del32 (p.Val1232Asnfs) http://identifiers.org/clinvar/371072 ^@ NM_138694.3(PKHD1):c.3561-2A>G http://identifiers.org/clinvar/370990 ^@ NM_138694.3(PKHD1):c.3313delT (p.Ser1105Profs) http://identifiers.org/clinvar/370897 ^@ NM_138694.3(PKHD1):c.3302delC (p.Thr1101Asnfs) http://identifiers.org/clinvar/370927 ^@ NM_138694.3(PKHD1):c.3229-2A>C http://identifiers.org/clinvar/370166 ^@ NM_138694.3(PKHD1):c.3229-2delA http://identifiers.org/clinvar/371594 ^@ NM_138694.3(PKHD1):c.2813delA (p.Tyr938Serfs) http://identifiers.org/clinvar/370530 ^@ NM_138694.3(PKHD1):c.2715+2_2715+14del13 http://identifiers.org/clinvar/370711 ^@ NM_138694.3(PKHD1):c.2590delA (p.Arg864Glyfs) http://identifiers.org/clinvar/371292 ^@ NM_138694.3(PKHD1):c.2264C>T (p.Pro755Leu) http://identifiers.org/clinvar/370586 ^@ NM_138694.3(PKHD1):c.2192C>A (p.Ser731Ter) http://identifiers.org/clinvar/371061 ^@ NM_138694.3(PKHD1):c.1409delG (p.Gly470Valfs) http://identifiers.org/clinvar/371319 ^@ NM_138694.3(PKHD1):c.1205delT (p.Phe402Serfs) http://identifiers.org/clinvar/370788 ^@ NM_138694.3(PKHD1):c.748C>T (p.Gln250Ter) http://identifiers.org/clinvar/370164 ^@ NM_138694.3(PKHD1):c.603-2A>G http://identifiers.org/clinvar/370699 ^@ NM_138694.3(PKHD1):c.527+1delG http://identifiers.org/clinvar/371436 ^@ NM_138694.3(PKHD1):c.448+2T>C http://identifiers.org/clinvar/371099 ^@ NM_138694.3(PKHD1):c.156dupC (p.Asn53Glnfs) http://identifiers.org/clinvar/371371 ^@ NM_138694.3(PKHD1):c.4_7delACTG (p.Thr2Profs) http://identifiers.org/clinvar/371032 ^@ NM_012434.4(SLC17A5):c.1350+1G>A http://identifiers.org/clinvar/370393 ^@ NM_012434.4(SLC17A5):c.1259+1G>A http://identifiers.org/clinvar/371232 ^@ NM_012434.4(SLC17A5):c.1127delC (p.Ala376Glufs) http://identifiers.org/clinvar/371242 ^@ NM_012434.4(SLC17A5):c.1121delG (p.Gly374Aspfs) http://identifiers.org/clinvar/370976 ^@ NM_012434.4(SLC17A5):c.1016G>A (p.Trp339Ter) http://identifiers.org/clinvar/370579 ^@ NM_012434.4(SLC17A5):c.909G>A (p.Trp303Ter) http://identifiers.org/clinvar/370901 ^@ NM_012434.4(SLC17A5):c.905delA (p.Asn302Thrfs) http://identifiers.org/clinvar/371127 ^@ NM_012434.4(SLC17A5):c.819+1G>A http://identifiers.org/clinvar/370912 ^@ NM_012434.4(SLC17A5):c.693delC (p.Phe233Leufs) http://identifiers.org/clinvar/370349 ^@ NM_012434.4(SLC17A5):c.423delT (p.Phe141Leufs) http://identifiers.org/clinvar/370132 ^@ NM_012434.4(SLC17A5):c.384T>A (p.Tyr128Ter) http://identifiers.org/clinvar/370442 ^@ NM_012434.4(SLC17A5):c.349dupT (p.Tyr117Leufs) http://identifiers.org/clinvar/370491 ^@ NM_012434.4(SLC17A5):c.292-2A>C http://identifiers.org/clinvar/370460 ^@ NM_012434.4(SLC17A5):c.215_216delCA (p.Thr72Asnfs) http://identifiers.org/clinvar/371435 ^@ NM_012434.4(SLC17A5):c.215delC (p.Thr72Lysfs) http://identifiers.org/clinvar/370514 ^@ NM_012434.4(SLC17A5):c.204delA (p.Asp69Ilefs) http://identifiers.org/clinvar/370805 ^@ NM_183050.3(BCKDHB):c.18_27delGGCTGCCGGC (p.Ala7Glyfs) http://identifiers.org/clinvar/370823 ^@ NM_183050.3(BCKDHB):c.79_89delCCTGGCGCGGG (p.Pro27Alafs) http://identifiers.org/clinvar/370739 ^@ NM_183050.3(BCKDHB):c.97delC (p.Arg33Glyfs) http://identifiers.org/clinvar/371618 ^@ NM_183050.3(BCKDHB):c.139_149delCAGAGGCGGCA (p.Gln47Glyfs) http://identifiers.org/clinvar/370949 ^@ NM_183050.3(BCKDHB):c.410C>T (p.Ala137Val) http://identifiers.org/clinvar/370827 ^@ NM_183050.3(BCKDHB):c.487G>T (p.Glu163Ter) http://identifiers.org/clinvar/370540 ^@ NM_183050.3(BCKDHB):c.730delT (p.Tyr244Thrfs) http://identifiers.org/clinvar/370370 ^@ NM_183050.3(BCKDHB):c.840+1G>A http://identifiers.org/clinvar/370274 ^@ NM_183050.3(BCKDHB):c.840+1G>T http://identifiers.org/clinvar/371249 ^@ NM_183050.3(BCKDHB):c.853delC (p.Arg285Glufs) http://identifiers.org/clinvar/370620 ^@ NM_000441.1(SLC26A4):c.55delA (p.Ser19Alafs) http://identifiers.org/clinvar/371369 ^@ NM_000441.1(SLC26A4):c.142G>T (p.Glu48Ter) http://identifiers.org/clinvar/370650 ^@ NM_000441.1(SLC26A4):c.249G>A (p.Trp83Ter) http://identifiers.org/clinvar/371034 ^@ NM_000441.1(SLC26A4):c.281C>T (p.Thr94Ile) http://identifiers.org/clinvar/371079 ^@ NM_000441.1(SLC26A4):c.416-1G>A http://identifiers.org/clinvar/370937 ^@ NM_000441.1(SLC26A4):c.600+2T>A http://identifiers.org/clinvar/370676 ^@ NM_000441.1(SLC26A4):c.619C>T (p.Gln207Ter) http://identifiers.org/clinvar/371404 ^@ NM_000441.1(SLC26A4):c.858_865delGGAATTAA (p.Glu287Terfs) http://identifiers.org/clinvar/370192 ^@ NM_000441.1(SLC26A4):c.916dupG (p.Val306Glyfs) http://identifiers.org/clinvar/370108 ^@ NM_000441.1(SLC26A4):c.918+2T>C http://identifiers.org/clinvar/370123 ^@ NM_000441.1(SLC26A4):c.1001+1G>T http://identifiers.org/clinvar/370578 ^@ NM_000441.1(SLC26A4):c.1160C>T (p.Ala387Val) http://identifiers.org/clinvar/371146 ^@ NM_000441.1(SLC26A4):c.1173C>A (p.Ser391Arg) http://identifiers.org/clinvar/370463 ^@ NM_000441.1(SLC26A4):c.1181_1183delTCT (p.Phe394del) http://identifiers.org/clinvar/371421 ^@ NM_000441.1(SLC26A4):c.1225C>T (p.Arg409Cys) http://identifiers.org/clinvar/370080 ^@ NM_000441.1(SLC26A4):c.1238A>G (p.Gln413Arg) http://identifiers.org/clinvar/370255 ^@ NM_000441.1(SLC26A4):c.1238delA (p.Gln413Argfs) http://identifiers.org/clinvar/371209 ^@ NM_000441.1(SLC26A4):c.1263+1G>A http://identifiers.org/clinvar/371092 ^@ NM_000441.1(SLC26A4):c.1263+1G>T http://identifiers.org/clinvar/370343 ^@ NM_000441.1(SLC26A4):c.1341+1G>C http://identifiers.org/clinvar/371471 ^@ NM_000441.1(SLC26A4):c.1342-1G>T http://identifiers.org/clinvar/370721 ^@ NM_000441.1(SLC26A4):c.1438-2A>G http://identifiers.org/clinvar/370498 ^@ NM_000441.1(SLC26A4):c.1539_1544+6del12 http://identifiers.org/clinvar/370114 ^@ NM_000441.1(SLC26A4):c.1595G>T (p.Ser532Ile) http://identifiers.org/clinvar/371298 ^@ NM_000441.1(SLC26A4):c.1949T>A (p.Val650Asp) http://identifiers.org/clinvar/370622 ^@ NM_000441.1(SLC26A4):c.1966delC (p.His656Ilefs) http://identifiers.org/clinvar/370824 ^@ NM_000441.1(SLC26A4):c.2067delT (p.Asn689Lysfs) http://identifiers.org/clinvar/371476 ^@ NM_000441.1(SLC26A4):c.2228T>A (p.Leu743Ter) http://identifiers.org/clinvar/371164 ^@ NM_000441.1(SLC26A4):c.2319+1G>A http://identifiers.org/clinvar/371615 ^@ NM_000108.4(DLD):c.39+1G>A http://identifiers.org/clinvar/371579 ^@ NM_000108.4(DLD):c.82delT (p.Ser28Leufs) http://identifiers.org/clinvar/370072 ^@ NM_000108.4(DLD):c.104dupA (p.Tyr35Terfs) http://identifiers.org/clinvar/370700 ^@ NM_000108.4(DLD):c.112C>T (p.Gln38Ter) http://identifiers.org/clinvar/371362 ^@ NM_000108.4(DLD):c.223dupA (p.Thr75Asnfs) http://identifiers.org/clinvar/371111 ^@ NM_000108.4(DLD):c.633dupA (p.Val212Serfs) http://identifiers.org/clinvar/371542 ^@ NM_000108.4(DLD):c.1520_1523delTCAA (p.Ile507Thrfs) http://identifiers.org/clinvar/370097 ^@ NM_000492.3(CFTR):c.56G>A (p.Trp19Ter) http://identifiers.org/clinvar/371527 ^@ NM_000492.3(CFTR):c.739_742dupTACA (p.Arg248Ilefs) http://identifiers.org/clinvar/370635 ^@ NM_000492.3(CFTR):c.744-2A>G http://identifiers.org/clinvar/370599 ^@ NM_000492.3(CFTR):c.865A>T (p.Arg289Ter) http://identifiers.org/clinvar/370304 ^@ NM_000492.3(CFTR):c.888_889dupTC (p.Arg297Leufs) http://identifiers.org/clinvar/370916 ^@ NM_000492.3(CFTR):c.1209+1G>T http://identifiers.org/clinvar/370104 ^@ NM_000492.3(CFTR):c.2429delG (p.Arg810Lysfs) http://identifiers.org/clinvar/371444 ^@ NM_000492.3(CFTR):c.2483dupA (p.Asp828Glufs) http://identifiers.org/clinvar/370078 ^@ NM_000492.3(CFTR):c.2490+2T>C http://identifiers.org/clinvar/371181 ^@ NM_000492.3(CFTR):c.2554dupT (p.Tyr852Leufs) http://identifiers.org/clinvar/371135 ^@ NM_000492.3(CFTR):c.2854delA (p.Met952Cysfs) http://identifiers.org/clinvar/370341 ^@ NM_000492.3(CFTR):c.2993delT (p.Leu998Tyrfs) http://identifiers.org/clinvar/370821 ^@ NM_000492.3(CFTR):c.3139+1delG http://identifiers.org/clinvar/371331 ^@ NM_000492.3(CFTR):c.3368-2A>T http://identifiers.org/clinvar/371056 ^@ NM_000492.3(CFTR):c.3495delG (p.Lys1165Asnfs) http://identifiers.org/clinvar/370587 ^@ NM_000492.3(CFTR):c.3533C>A (p.Ser1178Ter) http://identifiers.org/clinvar/370075 ^@ NM_000492.3(CFTR):c.3536_3539delCCAA (p.Thr1179Asnfs) http://identifiers.org/clinvar/371605 ^@ NM_000492.3(CFTR):c.3851_3852dupAA (p.Ala1285Lysfs) http://identifiers.org/clinvar/370490 ^@ NM_000492.3(CFTR):c.3944_3951delTATGGAAA (p.Ile1315Serfs) http://identifiers.org/clinvar/370155 ^@ NM_000492.3(CFTR):c.3963+1G>C http://identifiers.org/clinvar/370397 ^@ NM_000492.3(CFTR):c.3988_3989delCA (p.Gln1330Valfs) http://identifiers.org/clinvar/371287 ^@ NM_000492.3(CFTR):c.4143C>G (p.Tyr1381Ter) http://identifiers.org/clinvar/371349 ^@ NM_000492.3(CFTR):c.4272C>G (p.Tyr1424Ter) http://identifiers.org/clinvar/370324 ^@ NM_000492.3(CFTR):c.4300_4301dupAG (p.Ser1435Glyfs) http://identifiers.org/clinvar/371698 ^@ NM_000466.2(PEX1):c.3574C>T (p.Gln1192Ter) http://identifiers.org/clinvar/371715 ^@ NM_000466.2(PEX1):c.3547G>T (p.Glu1183Ter) http://identifiers.org/clinvar/371774 ^@ NM_000466.2(PEX1):c.3455_3456delCT (p.Ser1152Cysfs) http://identifiers.org/clinvar/371756 ^@ NM_000466.2(PEX1):c.3237_3238delAA (p.Leu1081Valfs) http://identifiers.org/clinvar/371765 ^@ NM_000466.2(PEX1):c.3208-1G>A http://identifiers.org/clinvar/371784 ^@ NM_000466.2(PEX1):c.2927-2A>G http://identifiers.org/clinvar/371696 ^@ NM_000466.2(PEX1):c.2922delA (p.Leu974Phefs) http://identifiers.org/clinvar/371716 ^@ NM_000466.2(PEX1):c.2875C>T (p.Arg959Ter) http://identifiers.org/clinvar/371706 ^@ NM_000466.2(PEX1):c.2859dupT (p.Thr954Tyrfs) http://identifiers.org/clinvar/371720 ^@ NM_000466.2(PEX1):c.2798dupA (p.Pro934Alafs) http://identifiers.org/clinvar/371747 ^@ NM_000466.2(PEX1):c.2723delC (p.Pro908Glnfs) http://identifiers.org/clinvar/371721 ^@ NM_000466.2(PEX1):c.2686C>T (p.Arg896Ter) http://identifiers.org/clinvar/371702 ^@ NM_000466.2(PEX1):c.2617C>T (p.Gln873Ter) http://identifiers.org/clinvar/371742 ^@ NM_000466.2(PEX1):c.2162_2166delTACTT (p.Leu721Cysfs) http://identifiers.org/clinvar/371699 ^@ NM_000466.2(PEX1):c.2137C>T (p.Gln713Ter) http://identifiers.org/clinvar/371692 ^@ NM_000466.2(PEX1):c.2034_2035delCA (p.His678Glnfs) http://identifiers.org/clinvar/371723 ^@ NM_000466.2(PEX1):c.1964_1970dupAGCCATC (p.Val658Alafs) http://identifiers.org/clinvar/371780 ^@ NM_000466.2(PEX1):c.1926_1927delAAinsC (p.Lys642Asnfs) http://identifiers.org/clinvar/371693 ^@ NM_000466.2(PEX1):c.1921C>T (p.Gln641Ter) http://identifiers.org/clinvar/371713 ^@ NM_000466.2(PEX1):c.1908delG (p.Arg636Serfs) http://identifiers.org/clinvar/371703 ^@ NM_000466.2(PEX1):c.1842delA (p.Glu615Lysfs) http://identifiers.org/clinvar/371726 ^@ NM_000466.2(PEX1):c.1765G>T (p.Gly589Ter) http://identifiers.org/clinvar/371727 ^@ NM_000466.2(PEX1):c.1670+1G>T http://identifiers.org/clinvar/371753 ^@ NM_000466.2(PEX1):c.1670+1G>A http://identifiers.org/clinvar/371701 ^@ NM_000466.2(PEX1):c.1587+1G>A http://identifiers.org/clinvar/371690 ^@ NM_000466.2(PEX1):c.1528G>T (p.Glu510Ter) http://identifiers.org/clinvar/371739 ^@ NM_000466.2(PEX1):c.1527delA (p.Glu510Lysfs) http://identifiers.org/clinvar/371689 ^@ NM_000466.2(PEX1):c.1522dupG (p.Glu508Glyfs) http://identifiers.org/clinvar/371767 ^@ NM_000466.2(PEX1):c.1155delA (p.Val386Terfs) http://identifiers.org/clinvar/371779 ^@ NM_000466.2(PEX1):c.1108delA (p.Ile370Leufs) http://identifiers.org/clinvar/371694 ^@ NM_000466.2(PEX1):c.1076delA (p.Lys359Serfs) http://identifiers.org/clinvar/371725 ^@ NM_000466.2(PEX1):c.1074_1075delGA (p.Lys359Alafs) http://identifiers.org/clinvar/371751 ^@ NM_000466.2(PEX1):c.892_895dupTATA (p.Asn299Ilefs) http://identifiers.org/clinvar/371769 ^@ NM_000466.2(PEX1):c.734delT (p.Leu245Tyrfs) http://identifiers.org/clinvar/371782 ^@ NM_000466.2(PEX1):c.547C>T (p.Arg183Ter) http://identifiers.org/clinvar/371752 ^@ NM_000466.2(PEX1):c.431dupC (p.Val145Cysfs) http://identifiers.org/clinvar/371714 ^@ NM_000466.2(PEX1):c.358-1G>T http://identifiers.org/clinvar/371743 ^@ NM_000466.2(PEX1):c.358-2A>G http://identifiers.org/clinvar/371724 ^@ NM_000466.2(PEX1):c.348G>A (p.Trp116Ter) http://identifiers.org/clinvar/371711 ^@ NM_000466.2(PEX1):c.130-1G>C http://identifiers.org/clinvar/371688 ^@ NM_000466.2(PEX1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/371746 ^@ NM_000466.2(PEX1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/371744 ^@ NM_000466.2(PEX1):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/370918 ^@ NM_018941.3(CLN8):c.47delT (p.Leu16Argfs) http://identifiers.org/clinvar/370553 ^@ NM_018941.3(CLN8):c.263delA (p.Asp88Alafs) http://identifiers.org/clinvar/371199 ^@ NM_018941.3(CLN8):c.543+1G>T http://identifiers.org/clinvar/370502 ^@ NM_000349.2(STAR):c.629_630delCT (p.Pro210Argfs) http://identifiers.org/clinvar/371663 ^@ NM_000370.3(TTPA):c.441delA (p.Glu148Lysfs) http://identifiers.org/clinvar/370354 ^@ NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) http://identifiers.org/clinvar/370407 ^@ NM_000370.3(TTPA):c.205-1G>C http://identifiers.org/clinvar/370950 ^@ NM_000370.3(TTPA):c.205-2A>G http://identifiers.org/clinvar/370311 ^@ NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) http://identifiers.org/clinvar/371454 ^@ NM_000370.3(TTPA):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/371741 ^@ NM_001079867.1(PEX2):c.834_838delTACTT (p.Phe278Leufs) http://identifiers.org/clinvar/370089 ^@ NM_019098.4(CNGB3):c.1937delT (p.Leu646Terfs) http://identifiers.org/clinvar/371588 ^@ NM_019098.4(CNGB3):c.1929-2A>G http://identifiers.org/clinvar/371674 ^@ NM_019098.4(CNGB3):c.1928+2T>C http://identifiers.org/clinvar/370539 ^@ NM_019098.4(CNGB3):c.1908delG (p.Ile637Serfs) http://identifiers.org/clinvar/370459 ^@ NM_019098.4(CNGB3):c.1579-1G>A http://identifiers.org/clinvar/370865 ^@ NM_019098.4(CNGB3):c.1480+1G>A http://identifiers.org/clinvar/370933 ^@ NM_019098.4(CNGB3):c.1366delC (p.Arg456Alafs) http://identifiers.org/clinvar/370917 ^@ NM_019098.4(CNGB3):c.1260delT (p.Ile420Metfs) http://identifiers.org/clinvar/371304 ^@ NM_019098.4(CNGB3):c.1179-2A>T http://identifiers.org/clinvar/371157 ^@ NM_019098.4(CNGB3):c.567delG (p.Trp189Cysfs) http://identifiers.org/clinvar/371158 ^@ NM_019098.4(CNGB3):c.556_559delAGGC (p.Arg186Cysfs) http://identifiers.org/clinvar/370100 ^@ NM_019098.4(CNGB3):c.446_447insT (p.Lys149Asnfs) http://identifiers.org/clinvar/370817 ^@ NM_019098.4(CNGB3):c.412delA (p.Arg138Glufs) http://identifiers.org/clinvar/371643 ^@ NM_019098.4(CNGB3):c.220_221delTC (p.Ser74Glnfs) http://identifiers.org/clinvar/370806 ^@ NM_019098.4(CNGB3):c.163dupA (p.Thr55Asnfs) http://identifiers.org/clinvar/370177 ^@ NM_019098.4(CNGB3):c.11C>A (p.Ser4Ter) http://identifiers.org/clinvar/371428 ^@ NM_002485.4(NBN):c.2185-1G>A http://identifiers.org/clinvar/371189 ^@ NM_002485.4(NBN):c.2070+2delT http://identifiers.org/clinvar/370922 ^@ NM_002485.4(NBN):c.2049_2050delAAinsT (p.Lys683Asnfs) http://identifiers.org/clinvar/370899 ^@ NM_002485.4(NBN):c.2000_2001delCT (p.Ser667Tyrfs) http://identifiers.org/clinvar/370663 ^@ NM_002485.4(NBN):c.1974delA (p.Glu658Aspfs) http://identifiers.org/clinvar/370589 ^@ NM_002485.4(NBN):c.1848delA (p.Glu617Lysfs) http://identifiers.org/clinvar/371415 ^@ NM_002485.4(NBN):c.1846-1G>A http://identifiers.org/clinvar/371069 ^@ NM_002485.4(NBN):c.1640delC (p.Ser547Terfs) http://identifiers.org/clinvar/370229 ^@ NM_002485.4(NBN):c.1587dupA (p.Ser530Ilefs) http://identifiers.org/clinvar/371223 ^@ NM_002485.4(NBN):c.1125-1G>A http://identifiers.org/clinvar/371357 ^@ NM_002485.4(NBN):c.1124+1G>A http://identifiers.org/clinvar/371225 ^@ NM_002485.4(NBN):c.702+1G>A http://identifiers.org/clinvar/370812 ^@ NM_002485.4(NBN):c.531delT (p.Phe177Leufs) http://identifiers.org/clinvar/370898 ^@ NM_002485.4(NBN):c.317dupT (p.Arg107Glnfs) http://identifiers.org/clinvar/370213 ^@ NM_002485.4(NBN):c.265C>T (p.Arg89Ter) http://identifiers.org/clinvar/370312 ^@ NM_002485.4(NBN):c.178dupA (p.Thr60Asnfs) http://identifiers.org/clinvar/370793 ^@ NM_002485.4(NBN):c.163_171+3del12 http://identifiers.org/clinvar/370215 ^@ NM_002485.4(NBN):c.171+1G>A http://identifiers.org/clinvar/371121 ^@ NM_002485.4(NBN):c.156_157delTT (p.Ser53Cysfs) http://identifiers.org/clinvar/371129 ^@ NM_017890.4(VPS13B):c.147+1G>A http://identifiers.org/clinvar/370906 ^@ NM_017890.4(VPS13B):c.291+1G>A http://identifiers.org/clinvar/370352 ^@ NM_017890.4(VPS13B):c.376C>T (p.Gln126Ter) http://identifiers.org/clinvar/371467 ^@ NM_017890.4(VPS13B):c.412+1G>A http://identifiers.org/clinvar/371191 ^@ NM_017890.4(VPS13B):c.424_425delAG (p.Leu143Aspfs) http://identifiers.org/clinvar/370440 ^@ NM_017890.4(VPS13B):c.436C>T (p.Arg146Ter) http://identifiers.org/clinvar/370733 ^@ NM_017890.4(VPS13B):c.901_904delACTT (p.Thr301Valfs) http://identifiers.org/clinvar/370218 ^@ NM_017890.4(VPS13B):c.1001delA (p.Tyr334Phefs) http://identifiers.org/clinvar/371057 ^@ NM_017890.4(VPS13B):c.1040delC (p.Ser347Tyrfs) http://identifiers.org/clinvar/370153 ^@ NM_017890.4(VPS13B):c.1079_1080delACinsG (p.Asp360Glyfs) http://identifiers.org/clinvar/371496 ^@ NM_017890.4(VPS13B):c.1495_1498delTTTG (p.Phe499Ilefs) http://identifiers.org/clinvar/370991 ^@ NM_017890.4(VPS13B):c.1563+1G>A http://identifiers.org/clinvar/371318 ^@ NM_152564.4(VPS13B):c.1664_1671delAACAAGAC (p.Gln555Leufs) http://identifiers.org/clinvar/371451 ^@ NM_017890.4(VPS13B):c.1669delG (p.Asp557Thrfs) http://identifiers.org/clinvar/371523 ^@ NM_152564.4(VPS13B):c.2009_2013delAAAAG (p.Lys671Leufs) http://identifiers.org/clinvar/370495 ^@ NM_017890.4(VPS13B):c.2268delT (p.Val757Tyrfs) http://identifiers.org/clinvar/370680 ^@ NM_017890.4(VPS13B):c.2341A>T (p.Arg781Ter) http://identifiers.org/clinvar/371417 ^@ NM_017890.4(VPS13B):c.2816delAinsCC (p.His939Profs) http://identifiers.org/clinvar/370331 ^@ NM_017890.4(VPS13B):c.2824+2T>C http://identifiers.org/clinvar/370665 ^@ NM_017890.4(VPS13B):c.3027_3045dup19 (p.Tyr1016Ilefs) http://identifiers.org/clinvar/370875 ^@ NM_017890.4(VPS13B):c.3072_3073delAAinsT (p.Lys1024Asnfs) http://identifiers.org/clinvar/370995 ^@ NM_017890.4(VPS13B):c.3104delC (p.Pro1035Leufs) http://identifiers.org/clinvar/371660 ^@ NM_017890.4(VPS13B):c.3133delA (p.Ser1045Alafs) http://identifiers.org/clinvar/370978 ^@ NM_017890.4(VPS13B):c.3240delT (p.Pro1081Glnfs) http://identifiers.org/clinvar/370216 ^@ NG_007098.2:g.459245_459246ins5 http://identifiers.org/clinvar/370645 ^@ NM_017890.4(VPS13B):c.3902dupC (p.Phe1302Ilefs) http://identifiers.org/clinvar/371573 ^@ NM_017890.4(VPS13B):c.4238T>A (p.Leu1413Ter) http://identifiers.org/clinvar/371168 ^@ NM_017890.4(VPS13B):c.4821-1G>T http://identifiers.org/clinvar/370402 ^@ NM_017890.4(VPS13B):c.4846C>T (p.Arg1616Ter) http://identifiers.org/clinvar/371494 ^@ NM_017890.4(VPS13B):c.5409delC (p.Arg1804Glufs) http://identifiers.org/clinvar/370619 ^@ NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter) http://identifiers.org/clinvar/371482 ^@ NM_017890.4(VPS13B):c.5847dupA (p.Gln1950Thrfs) http://identifiers.org/clinvar/370694 ^@ NM_017890.4(VPS13B):c.5984-1G>T http://identifiers.org/clinvar/370884 ^@ NM_017890.4(VPS13B):c.6122-5_6122del6 http://identifiers.org/clinvar/370226 ^@ NM_017890.4(VPS13B):c.6374G>A (p.Trp2125Ter) http://identifiers.org/clinvar/370438 ^@ NM_017890.4(VPS13B):c.6394C>T (p.Gln2132Ter) http://identifiers.org/clinvar/370170 ^@ NM_017890.4(VPS13B):c.6418C>T (p.Gln2140Ter) http://identifiers.org/clinvar/370444 ^@ NM_017890.4(VPS13B):c.6545C>A (p.Ser2182Ter) http://identifiers.org/clinvar/371495 ^@ NM_017890.4(VPS13B):c.6583delA (p.Thr2195Glnfs) http://identifiers.org/clinvar/370655 ^@ NM_017890.4(VPS13B):c.6730C>T (p.Gln2244Ter) http://identifiers.org/clinvar/370445 ^@ NM_017890.4(VPS13B):c.6733_6748del16 (p.Val2245Asnfs) http://identifiers.org/clinvar/370191 ^@ NM_017890.4(VPS13B):c.6904delC (p.Leu2302Tyrfs) http://identifiers.org/clinvar/370883 ^@ NM_017890.4(VPS13B):c.7125+1G>T http://identifiers.org/clinvar/371589 ^@ NG_007098.2:g.758511_758512ins5 http://identifiers.org/clinvar/370527 ^@ NM_017890.4(VPS13B):c.7148G>A (p.Trp2383Ter) http://identifiers.org/clinvar/370652 ^@ NM_017890.4(VPS13B):c.7255A>T (p.Lys2419Ter) http://identifiers.org/clinvar/371531 ^@ NM_017890.4(VPS13B):c.7323-1G>A http://identifiers.org/clinvar/371593 ^@ NM_017890.4(VPS13B):c.7504+2T>C http://identifiers.org/clinvar/370433 ^@ NM_017890.4(VPS13B):c.8471G>A (p.Trp2824Ter) http://identifiers.org/clinvar/371300 ^@ NM_017890.4(VPS13B):c.8634delG (p.Gln2879Argfs) http://identifiers.org/clinvar/371391 ^@ NM_017890.4(VPS13B):c.8696+2T>G http://identifiers.org/clinvar/370888 ^@ NM_017890.4(VPS13B):c.8958delG (p.Trp2988Glyfs) http://identifiers.org/clinvar/370526 ^@ NM_017890.4(VPS13B):c.9028C>T (p.Gln3010Ter) http://identifiers.org/clinvar/370156 ^@ NM_017890.4(VPS13B):c.9066delT (p.Gln3023Argfs) http://identifiers.org/clinvar/370501 ^@ NM_017890.4(VPS13B):c.9084delT (p.Ile3028Metfs) http://identifiers.org/clinvar/370815 ^@ NM_017890.4(VPS13B):c.9257delA (p.Lys3086Serfs) http://identifiers.org/clinvar/370840 ^@ NM_017890.4(VPS13B):c.9259-2_9259delAGT http://identifiers.org/clinvar/370547 ^@ NM_017890.4(VPS13B):c.9406-1G>A http://identifiers.org/clinvar/371306 ^@ NM_017890.4(VPS13B):c.9689+1G>T http://identifiers.org/clinvar/371583 ^@ NM_017890.4(VPS13B):c.9690-2A>C http://identifiers.org/clinvar/370254 ^@ NM_017890.4(VPS13B):c.9760C>T (p.Arg3254Ter) http://identifiers.org/clinvar/370967 ^@ NM_017890.4(VPS13B):c.9817+1G>T http://identifiers.org/clinvar/371592 ^@ NM_017890.4(VPS13B):c.9831delT (p.Phe3277Leufs) http://identifiers.org/clinvar/370602 ^@ NM_017890.4(VPS13B):c.9850delA (p.Ile3284Phefs) http://identifiers.org/clinvar/370536 ^@ NM_017890.4(VPS13B):c.9905delC (p.Pro3302Argfs) http://identifiers.org/clinvar/370592 ^@ NM_017890.4(VPS13B):c.9955_9956delCC (p.Pro3319Serfs) http://identifiers.org/clinvar/371174 ^@ NM_017890.4(VPS13B):c.10017+1G>A http://identifiers.org/clinvar/370373 ^@ NM_017890.4(VPS13B):c.10181T>G (p.Leu3394Ter) http://identifiers.org/clinvar/371264 ^@ NM_017890.4(VPS13B):c.10748dupT (p.Lys3584Glufs) http://identifiers.org/clinvar/371004 ^@ NM_017890.4(VPS13B):c.10943-2A>C http://identifiers.org/clinvar/371350 ^@ NM_017890.4(VPS13B):c.11180_11189delCACTGGATGA (p.Ser3727Trpfs) http://identifiers.org/clinvar/371572 ^@ NM_017890.4(VPS13B):c.11237_11238delGC (p.Ser3746Thrfs) http://identifiers.org/clinvar/371653 ^@ NM_017890.4(VPS13B):c.11291-1G>A http://identifiers.org/clinvar/370117 ^@ NM_017890.4(VPS13B):c.11338delA (p.Thr3780Hisfs) http://identifiers.org/clinvar/371330 ^@ NM_017890.4(VPS13B):c.11468-1G>A http://identifiers.org/clinvar/370167 ^@ NM_017890.4(VPS13B):c.11546_11549delCAAAinsTGT (p.Pro3849Leufs) http://identifiers.org/clinvar/371090 ^@ NM_017890.4(VPS13B):c.11595delA (p.Arg3865Serfs) http://identifiers.org/clinvar/370643 ^@ NM_017890.4(VPS13B):c.11650delC (p.His3884Metfs) http://identifiers.org/clinvar/371647 ^@ NM_017890.4(VPS13B):c.11658dupG (p.Cys3887Valfs) http://identifiers.org/clinvar/371585 ^@ NM_017890.4(VPS13B):c.11675C>A (p.Ser3892Ter) http://identifiers.org/clinvar/370292 ^@ NM_017890.4(VPS13B):c.11913T>A (p.Cys3971Ter) http://identifiers.org/clinvar/371511 ^@ NM_017890.4(VPS13B):c.11955dupT (p.Pro3986Serfs) http://identifiers.org/clinvar/371260 ^@ NM_000035.3(ALDOB):c.888G>A (p.Trp296Ter) http://identifiers.org/clinvar/371208 ^@ NM_000035.3(ALDOB):c.546delA (p.Leu183Trpfs) http://identifiers.org/clinvar/370966 ^@ NM_000035.3(ALDOB):c.444G>A (p.Trp148Ter) http://identifiers.org/clinvar/371627 ^@ NM_000035.3(ALDOB):c.420delA (p.Asp141Metfs) http://identifiers.org/clinvar/371023 ^@ NM_000035.3(ALDOB):c.379+1G>A http://identifiers.org/clinvar/370293 ^@ NM_000035.3(ALDOB):c.324+2T>A http://identifiers.org/clinvar/370497 ^@ NM_000035.3(ALDOB):c.112+1delG http://identifiers.org/clinvar/370768 ^@ NM_001079802.1(FKTN):c.109G>T (p.Gly37Ter) http://identifiers.org/clinvar/370133 ^@ NM_001079802.1(FKTN):c.429delA (p.Asp144Ilefs) http://identifiers.org/clinvar/371297 ^@ NM_001079802.1(FKTN):c.658_661delCAGC (p.Gln220Lysfs) http://identifiers.org/clinvar/371050 ^@ NM_001079802.1(FKTN):c.770delC (p.Ala257Aspfs) http://identifiers.org/clinvar/370420 ^@ NM_001079802.1(FKTN):c.780+1G>A http://identifiers.org/clinvar/371091 ^@ NM_001079802.1(FKTN):c.1106delT (p.Phe369Serfs) http://identifiers.org/clinvar/370227 ^@ NM_003640.4(IKBKAP):c.2860+2T>C http://identifiers.org/clinvar/370257 ^@ NM_003640.4(IKBKAP):c.2817C>A (p.Tyr939Ter) http://identifiers.org/clinvar/371309 ^@ NM_003640.4(IKBKAP):c.2204+1G>A http://identifiers.org/clinvar/370915 ^@ NM_003640.4(IKBKAP):c.2158delC (p.His720Ilefs) http://identifiers.org/clinvar/370735 ^@ NM_003640.4(IKBKAP):c.2076dupG (p.Arg693Glufs) http://identifiers.org/clinvar/371044 ^@ NM_000050.4(ASS1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/370638 ^@ NM_000050.4(ASS1):c.226delG (p.Ala76Profs) http://identifiers.org/clinvar/370508 ^@ NM_000050.4(ASS1):c.366delG (p.Asn123Thrfs) http://identifiers.org/clinvar/370237 ^@ NM_000050.4(ASS1):c.412C>T (p.Gln138Ter) http://identifiers.org/clinvar/371423 ^@ NM_000050.4(ASS1):c.567-1G>T http://identifiers.org/clinvar/371254 ^@ NM_000050.4(ASS1):c.773+1G>A http://identifiers.org/clinvar/371132 ^@ NM_000050.4(ASS1):c.814C>T (p.Arg272Cys) http://identifiers.org/clinvar/370236 ^@ NM_000050.4(ASS1):c.978delG (p.Trp326Cysfs) http://identifiers.org/clinvar/371603 ^@ NM_000050.4(ASS1):c.1127+1G>A http://identifiers.org/clinvar/371619 ^@ NM_000155.3(GALT):c.83-2A>G http://identifiers.org/clinvar/371128 ^@ NM_000155.3(GALT):c.502G>A (p.Val168Met) http://identifiers.org/clinvar/370724 ^@ NM_000155.3(GALT):c.627T>A (p.Tyr209Ter) http://identifiers.org/clinvar/370940 ^@ NM_000155.3(GALT):c.670delC (p.Gln224Argfs) http://identifiers.org/clinvar/371396 ^@ NM_000155.3(GALT):c.761dupT (p.Leu255Alafs) http://identifiers.org/clinvar/370932 ^@ NM_000155.3(GALT):c.912dupC (p.Thr305Hisfs) http://identifiers.org/clinvar/370881 ^@ NM_000155.3(GALT):c.1048delA (p.Thr350Profs) http://identifiers.org/clinvar/371291 ^@ NM_001128227.2(GNE):c.1874delT (p.Met625Argfs) http://identifiers.org/clinvar/370240 ^@ NM_001128227.2(GNE):c.1702_1709delTTTGTTAC (p.Phe568Thrfs) http://identifiers.org/clinvar/370649 ^@ NM_001128227.2(GNE):c.1636_1637delGA (p.Asp546Glnfs) http://identifiers.org/clinvar/370826 ^@ NM_001128227.2(GNE):c.1616T>C (p.Leu539Ser) http://identifiers.org/clinvar/371049 ^@ NM_001128227.2(GNE):c.1510delT (p.Ser504Profs) http://identifiers.org/clinvar/370571 ^@ NM_001128227.2(GNE):c.1504+1delG http://identifiers.org/clinvar/370707 ^@ NM_001128227.2(GNE):c.1376delG (p.Gly459Valfs) http://identifiers.org/clinvar/370270 ^@ NM_001128227.2(GNE):c.1355T>C (p.Val452Ala) http://identifiers.org/clinvar/370154 ^@ NM_001128227.2(GNE):c.1251delA (p.Lys417Asnfs) http://identifiers.org/clinvar/370285 ^@ NM_001128227.2(GNE):c.1009C>T (p.Arg337Ter) http://identifiers.org/clinvar/370758 ^@ NM_001128227.2(GNE):c.949C>T (p.Gln317Ter) http://identifiers.org/clinvar/370972 ^@ NM_001128227.2(GNE):c.748C>T (p.Gln250Ter) http://identifiers.org/clinvar/371213 ^@ NM_001128227.2(GNE):c.729dupA (p.Asp244Argfs) http://identifiers.org/clinvar/370983 ^@ NM_001128227.2(GNE):c.528_531delTATC (p.Ile177Aspfs) http://identifiers.org/clinvar/370849 ^@ NM_001128227.2(GNE):c.478C>T (p.Arg160Ter) http://identifiers.org/clinvar/371365 ^@ NM_012203.1(GRHPR):c.154delG (p.Ala52Profs) http://identifiers.org/clinvar/371598 ^@ NM_012203.1(GRHPR):c.214+2T>G http://identifiers.org/clinvar/371394 ^@ NM_012203.1(GRHPR):c.228dupA (p.Val77Serfs) http://identifiers.org/clinvar/371535 ^@ NM_012203.1(GRHPR):c.337G>T (p.Glu113Ter) http://identifiers.org/clinvar/370187 ^@ NM_012203.1(GRHPR):c.404delA (p.Asn135Metfs) http://identifiers.org/clinvar/371518 ^@ NM_012203.1(GRHPR):c.435_436delGC (p.Trp145Cysfs) http://identifiers.org/clinvar/371124 ^@ NM_012203.1(GRHPR):c.441_442delTG (p.Cys147Trpfs) http://identifiers.org/clinvar/371016 ^@ NM_012203.1(GRHPR):c.454dupA (p.Thr152Asnfs) http://identifiers.org/clinvar/371081 ^@ NM_012203.1(GRHPR):c.515delT (p.Leu172Argfs) http://identifiers.org/clinvar/370176 ^@ NM_012203.1(GRHPR):c.597delT (p.Phe199Leufs) http://identifiers.org/clinvar/370863 ^@ NM_012203.1(GRHPR):c.755dupA (p.Asp252Glufs) http://identifiers.org/clinvar/370871 ^@ NM_012203.1(GRHPR):c.954delA (p.Glu320Serfs) http://identifiers.org/clinvar/370365 ^@ NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) http://identifiers.org/clinvar/370412 ^@ NM_000136.2(FANCC):c.1628C>A (p.Ser543Ter) http://identifiers.org/clinvar/370395 ^@ NM_000136.2(FANCC):c.1599G>A (p.Trp533Ter) http://identifiers.org/clinvar/371310 ^@ NM_000136.2(FANCC):c.1533+2T>C http://identifiers.org/clinvar/370968 ^@ NM_000136.2(FANCC):c.1533+1G>C http://identifiers.org/clinvar/370437 ^@ NM_000136.2(FANCC):c.1517G>A (p.Trp506Ter) http://identifiers.org/clinvar/371047 ^@ NM_000136.2(FANCC):c.1498G>T (p.Gly500Ter) http://identifiers.org/clinvar/370186 ^@ NM_000136.2(FANCC):c.1333C>T (p.Gln445Ter) http://identifiers.org/clinvar/370350 ^@ NM_000136.2(FANCC):c.1309C>T (p.Gln437Ter) http://identifiers.org/clinvar/370205 ^@ NM_000136.2(FANCC):c.1144delC (p.Gln382Argfs) http://identifiers.org/clinvar/370987 ^@ NM_000136.2(FANCC):c.1103_1104delTG (p.Leu368Glnfs) http://identifiers.org/clinvar/370120 ^@ NM_000136.2(FANCC):c.1037dupC (p.Ser347Ilefs) http://identifiers.org/clinvar/370818 ^@ NM_000136.2(FANCC):c.831delA (p.Asp278Ilefs) http://identifiers.org/clinvar/371252 ^@ NM_000136.2(FANCC):c.686+1G>T http://identifiers.org/clinvar/371351 ^@ NM_000136.2(FANCC):c.640dupA (p.Ile214Asnfs) http://identifiers.org/clinvar/370985 ^@ NM_000136.2(FANCC):c.457-1G>T http://identifiers.org/clinvar/370119 ^@ NM_000136.2(FANCC):c.345+1delG http://identifiers.org/clinvar/370175 ^@ NM_000136.2(FANCC):c.339G>A (p.Trp113Ter) http://identifiers.org/clinvar/370299 ^@ NM_000136.2(FANCC):c.307C>T (p.Gln103Ter) http://identifiers.org/clinvar/371370 ^@ NM_000136.2(FANCC):c.251-2A>C http://identifiers.org/clinvar/371279 ^@ NM_000136.2(FANCC):c.117delT (p.Gln40Serfs) http://identifiers.org/clinvar/371258 ^@ NM_000136.2(FANCC):c.108_109dupTC (p.His37Leufs) http://identifiers.org/clinvar/370524 ^@ NM_033056.3(PCDH15):c.4368-2A>T http://identifiers.org/clinvar/370528 ^@ NM_033056.3(PCDH15):c.4368-15_4368-2del14 http://identifiers.org/clinvar/370591 ^@ NM_033056.3(PCDH15):c.4367+1G>A http://identifiers.org/clinvar/370252 ^@ NM_033056.3(PCDH15):c.4313delC (p.Pro1438Argfs) http://identifiers.org/clinvar/370419 ^@ NM_033056.3(PCDH15):c.4227T>A (p.Cys1409Ter) http://identifiers.org/clinvar/371625 ^@ NM_033056.3(PCDH15):c.4211+2dupT http://identifiers.org/clinvar/370861 ^@ NM_033056.3(PCDH15):c.4197_4198insGTAG (p.Arg1400Valfs) http://identifiers.org/clinvar/370764 ^@ NM_033056.3(PCDH15):c.3983+1G>T http://identifiers.org/clinvar/370804 ^@ NM_033056.3(PCDH15):c.3885_3889dupAGATG (p.Ala1297Glufs) http://identifiers.org/clinvar/370145 ^@ NM_033056.3(PCDH15):c.3653delT (p.Phe1218Serfs) http://identifiers.org/clinvar/370113 ^@ NM_033056.3(PCDH15):c.3441dupA (p.Phe1148Ilefs) http://identifiers.org/clinvar/370648 ^@ NM_033056.3(PCDH15):c.3341delT (p.Val1114Glyfs) http://identifiers.org/clinvar/371060 ^@ NM_033056.3(PCDH15):c.3211delA (p.Ile1071Leufs) http://identifiers.org/clinvar/371507 ^@ NM_033056.3(PCDH15):c.3082delC (p.His1028Ilefs) http://identifiers.org/clinvar/371453 ^@ NM_033056.3(PCDH15):c.3023delC (p.Ala1008Valfs) http://identifiers.org/clinvar/370828 ^@ NM_033056.3(PCDH15):c.2825delG (p.Gly942Valfs) http://identifiers.org/clinvar/370242 ^@ NM_033056.3(PCDH15):c.2785C>T (p.Arg929Ter) http://identifiers.org/clinvar/370238 ^@ NM_033056.3(PCDH15):c.2624C>A (p.Ser875Ter) http://identifiers.org/clinvar/370469 ^@ NM_033056.3(PCDH15):c.2487dupA (p.Glu830Argfs) http://identifiers.org/clinvar/371039 ^@ NM_033056.3(PCDH15):c.2419dupA (p.Ile807Asnfs) http://identifiers.org/clinvar/371452 ^@ NM_033056.3(PCDH15):c.1915C>T (p.Gln639Ter) http://identifiers.org/clinvar/371427 ^@ NM_033056.3(PCDH15):c.1830_1833delTCAA (p.Asn610Lysfs) http://identifiers.org/clinvar/371655 ^@ NM_033056.3(PCDH15):c.1806T>G (p.Tyr602Ter) http://identifiers.org/clinvar/370422 ^@ NM_033056.3(PCDH15):c.1785-2A>C http://identifiers.org/clinvar/371283 ^@ NM_033056.3(PCDH15):c.1770_1771delTC (p.Pro591Cysfs) http://identifiers.org/clinvar/371411 ^@ NM_033056.3(PCDH15):c.1737C>G (p.Tyr579Ter) http://identifiers.org/clinvar/370952 ^@ NM_033056.3(PCDH15):c.1627delG (p.Glu543Argfs) http://identifiers.org/clinvar/370294 ^@ NM_033056.3(PCDH15):c.1305+1G>A http://identifiers.org/clinvar/370327 ^@ NM_033056.3(PCDH15):c.1006C>T (p.Arg336Ter) http://identifiers.org/clinvar/371153 ^@ NM_033056.3(PCDH15):c.901dupA (p.Thr301Asnfs) http://identifiers.org/clinvar/370417 ^@ NM_033056.3(PCDH15):c.594+1G>T http://identifiers.org/clinvar/371323 ^@ NM_033056.3(PCDH15):c.416_444del29 (p.Asp139Alafs) http://identifiers.org/clinvar/371430 ^@ NM_033056.3(PCDH15):c.358_359delTG (p.Cys120Hisfs) http://identifiers.org/clinvar/371083 ^@ NM_033056.3(PCDH15):c.333dupA (p.His112Thrfs) http://identifiers.org/clinvar/370790 ^@ NM_033056.3(PCDH15):c.157+1G>C http://identifiers.org/clinvar/370683 ^@ NM_000051.3(ATM):c.588delA (p.Gly197Aspfs) http://identifiers.org/clinvar/370378 ^@ NM_000051.3(ATM):c.877A>T (p.Lys293Ter) http://identifiers.org/clinvar/370931 ^@ NM_000051.3(ATM):c.1655delC (p.Pro552Glnfs) http://identifiers.org/clinvar/370725 ^@ NM_000051.3(ATM):c.1741_1742delTT (p.Leu581Ilefs) http://identifiers.org/clinvar/371548 ^@ NM_000051.3(ATM):c.1803-2A>G http://identifiers.org/clinvar/371473 ^@ NM_000051.3(ATM):c.1856delA (p.Asn619Thrfs) http://identifiers.org/clinvar/371408 ^@ NM_000051.3(ATM):c.2125delA (p.Ile709Leufs) http://identifiers.org/clinvar/370600 ^@ NM_000051.3(ATM):c.2135C>G (p.Ser712Ter) http://identifiers.org/clinvar/370313 ^@ NM_000051.3(ATM):c.2165dupT (p.Leu722Phefs) http://identifiers.org/clinvar/370519 ^@ NM_000051.3(ATM):c.2377-2A>G http://identifiers.org/clinvar/371070 ^@ NM_000051.3(ATM):c.2377_2378dupAA (p.Ser794Argfs) http://identifiers.org/clinvar/370787 ^@ NM_000051.3(ATM):c.2542G>T (p.Glu848Ter) http://identifiers.org/clinvar/371020 ^@ NM_000051.3(ATM):c.2606_2607delCA (p.Ala869Glufs) http://identifiers.org/clinvar/371414 ^@ NM_000051.3(ATM):c.2877C>G (p.Tyr959Ter) http://identifiers.org/clinvar/370122 ^@ NM_000051.3(ATM):c.2999dupA (p.Asn1000Lysfs) http://identifiers.org/clinvar/370563 ^@ NM_000051.3(ATM):c.3068delG (p.Gly1023Glufs) http://identifiers.org/clinvar/371217 ^@ NM_000051.3(ATM):c.3231dupT (p.Leu1078Serfs) http://identifiers.org/clinvar/370190 ^@ NM_000051.3(ATM):c.3315dupC (p.Arg1106Glnfs) http://identifiers.org/clinvar/370383 ^@ NM_000051.3(ATM):c.3351_3354delAACA (p.Thr1118Leufs) http://identifiers.org/clinvar/371071 ^@ NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) http://identifiers.org/clinvar/371378 ^@ NM_000051.3(ATM):c.3577-1G>C http://identifiers.org/clinvar/371256 ^@ NM_000051.3(ATM):c.3603delT (p.Phe1201Leufs) http://identifiers.org/clinvar/371361 ^@ NM_000051.3(ATM):c.3747-2A>G http://identifiers.org/clinvar/370505 ^@ NM_000051.3(ATM):c.3880dupA (p.Ile1294Asnfs) http://identifiers.org/clinvar/371220 ^@ NM_000051.3(ATM):c.3990delA (p.Lys1330Asnfs) http://identifiers.org/clinvar/370954 ^@ NM_000051.3(ATM):c.3993+1G>T http://identifiers.org/clinvar/370107 ^@ NM_000051.3(ATM):c.3994-1G>T http://identifiers.org/clinvar/371269 ^@ NM_000051.3(ATM):c.4019_4029delTACCAGAGATT (p.Leu1340Cysfs) http://identifiers.org/clinvar/370203 ^@ NM_000051.3(ATM):c.4246C>T (p.Gln1416Ter) http://identifiers.org/clinvar/371667 ^@ NM_000051.3(ATM):c.4695delT (p.Pro1566Leufs) http://identifiers.org/clinvar/370892 ^@ NM_000051.3(ATM):c.4732C>T (p.Gln1578Ter) http://identifiers.org/clinvar/371007 ^@ NM_000051.3(ATM):c.4776+2T>A http://identifiers.org/clinvar/371636 ^@ NM_000051.3(ATM):c.5005+1G>T http://identifiers.org/clinvar/370262 ^@ NM_000051.3(ATM):c.5130_5131delGAinsAC (p.Trp1710Ter) http://identifiers.org/clinvar/370193 ^@ NM_000051.3(ATM):c.5319+1G>T http://identifiers.org/clinvar/370504 ^@ NM_000051.3(ATM):c.5320-4_5323del8 http://identifiers.org/clinvar/371222 ^@ NM_000051.3(ATM):c.5351delA (p.Asn1784Thrfs) http://identifiers.org/clinvar/370779 ^@ NM_000051.3(ATM):c.5460dupA (p.Cys1821Metfs) http://identifiers.org/clinvar/370611 ^@ NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) http://identifiers.org/clinvar/371188 ^@ NM_000051.3(ATM):c.5763-2A>T http://identifiers.org/clinvar/371405 ^@ NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) http://identifiers.org/clinvar/370488 ^@ NM_000051.3(ATM):c.6095+2T>C http://identifiers.org/clinvar/371243 ^@ NM_000051.3(ATM):c.6347+1G>A http://identifiers.org/clinvar/371475 ^@ NM_000051.3(ATM):c.6348-1G>A http://identifiers.org/clinvar/370971 ^@ NM_000051.3(ATM):c.6482_6483dupGC (p.Ser2162Alafs) http://identifiers.org/clinvar/370103 ^@ NM_000051.3(ATM):c.7089+2T>G http://identifiers.org/clinvar/370874 ^@ NM_000051.3(ATM):c.7166C>G (p.Ser2389Ter) http://identifiers.org/clinvar/371123 ^@ NM_000051.3(ATM):c.7767delA (p.Lys2589Asnfs) http://identifiers.org/clinvar/370576 ^@ NM_000051.3(ATM):c.7880delA (p.Tyr2627Leufs) http://identifiers.org/clinvar/371131 ^@ NM_000051.3(ATM):c.8098A>T (p.Lys2700Ter) http://identifiers.org/clinvar/370640 ^@ NM_000051.3(ATM):c.8418+1G>A http://identifiers.org/clinvar/370094 ^@ NM_000051.3(ATM):c.8671+2T>C http://identifiers.org/clinvar/370841 ^@ NM_000051.3(ATM):c.8814_8824delGAGAAACTCTC (p.Met2938Ilefs) http://identifiers.org/clinvar/370500 ^@ NM_000051.3(ATM):c.8851-1G>T http://identifiers.org/clinvar/370165 ^@ NM_000051.3(ATM):c.9064dupG (p.Glu3022Glyfs) http://identifiers.org/clinvar/370413 ^@ NM_000317.2(PTS):c.297C>A (p.Tyr99Ter) http://identifiers.org/clinvar/370910 ^@ NM_000352.4(ABCC8):c.4478G>A (p.Arg1493Gln) http://identifiers.org/clinvar/370647 ^@ NM_000352.4(ABCC8):c.4474delG (p.Ala1492Profs) http://identifiers.org/clinvar/370329 ^@ NM_000352.4(ABCC8):c.4353G>A (p.Trp1451Ter) http://identifiers.org/clinvar/371608 ^@ NM_000352.4(ABCC8):c.4120-1G>T http://identifiers.org/clinvar/371155 ^@ NM_000352.4(ABCC8):c.4119+1delG http://identifiers.org/clinvar/370948 ^@ NM_000352.4(ABCC8):c.4072_4073delAAinsT (p.Lys1358Cysfs) http://identifiers.org/clinvar/370722 ^@ NM_000352.4(ABCC8):c.4021C>T (p.Gln1341Ter) http://identifiers.org/clinvar/370163 ^@ NM_000352.4(ABCC8):c.3748C>T (p.Arg1250Ter) http://identifiers.org/clinvar/371442 ^@ NM_000352.4(ABCC8):c.3650+2T>A http://identifiers.org/clinvar/370210 ^@ NM_000352.4(ABCC8):c.3574delG (p.Asp1192Metfs) http://identifiers.org/clinvar/370375 ^@ NM_000352.4(ABCC8):c.3525C>G (p.Tyr1175Ter) http://identifiers.org/clinvar/370935 ^@ NM_000352.4(ABCC8):c.3400-1G>A http://identifiers.org/clinvar/370556 ^@ NM_000352.4(ABCC8):c.3108G>A (p.Trp1036Ter) http://identifiers.org/clinvar/371626 ^@ NM_000352.4(ABCC8):c.2695-1G>C http://identifiers.org/clinvar/371115 ^@ NM_000352.4(ABCC8):c.2683dupC (p.His895Profs) http://identifiers.org/clinvar/370836 ^@ NM_000352.4(ABCC8):c.2556+1G>A http://identifiers.org/clinvar/370562 ^@ NM_000352.4(ABCC8):c.2255+2T>C http://identifiers.org/clinvar/370506 ^@ NM_000352.4(ABCC8):c.2098_2099delAC (p.Thr700Hisfs) http://identifiers.org/clinvar/370909 ^@ NM_000352.4(ABCC8):c.1879delC (p.His627Metfs) http://identifiers.org/clinvar/370464 ^@ NM_000352.4(ABCC8):c.1671+1G>C http://identifiers.org/clinvar/370604 ^@ NM_000352.4(ABCC8):c.1630+1G>T http://identifiers.org/clinvar/370657 ^@ NM_000352.4(ABCC8):c.1603_1604insA (p.Ala535Aspfs) http://identifiers.org/clinvar/371024 ^@ NM_000352.4(ABCC8):c.1468-2A>C http://identifiers.org/clinvar/371255 ^@ NM_000352.4(ABCC8):c.1467+2T>C http://identifiers.org/clinvar/370646 ^@ NM_000352.4(ABCC8):c.795dupG (p.Leu266Alafs) http://identifiers.org/clinvar/371267 ^@ NM_000352.4(ABCC8):c.692G>A (p.Trp231Ter) http://identifiers.org/clinvar/371346 ^@ NM_000352.4(ABCC8):c.584dupA (p.Tyr195Terfs) http://identifiers.org/clinvar/370564 ^@ NM_000352.4(ABCC8):c.415delC (p.Leu139Cysfs) http://identifiers.org/clinvar/371110 ^@ NM_000352.4(ABCC8):c.413-2A>G http://identifiers.org/clinvar/371380 ^@ NM_000352.4(ABCC8):c.220C>T (p.Arg74Trp) http://identifiers.org/clinvar/371732 ^@ NM_153676.3(USH1C):c.496+1G>A http://identifiers.org/clinvar/371731 ^@ NM_153676.3(USH1C):c.463C>T (p.Arg155Ter) http://identifiers.org/clinvar/370858 ^@ NM_000360.3(TH):c.1104+1G>A http://identifiers.org/clinvar/371299 ^@ NM_000360.3(TH):c.997delC (p.Leu333Trpfs) http://identifiers.org/clinvar/370745 ^@ NM_000360.3(TH):c.977+1G>A http://identifiers.org/clinvar/370441 ^@ NM_000360.3(TH):c.921delG (p.Phe308Serfs) http://identifiers.org/clinvar/370714 ^@ NM_000360.3(TH):c.717delG (p.Lys240Argfs) http://identifiers.org/clinvar/371630 ^@ NM_000360.3(TH):c.601C>T (p.Gln201Ter) http://identifiers.org/clinvar/371096 ^@ NM_000360.3(TH):c.487+2T>C http://identifiers.org/clinvar/370929 ^@ NM_000360.3(TH):c.91-9_107del26 http://identifiers.org/clinvar/370720 ^@ NM_000360.3(TH):c.12dupC (p.Asp5Argfs) http://identifiers.org/clinvar/371740 ^@ NM_001173990.2(TMEM216):c.34+2T>C http://identifiers.org/clinvar/371778 ^@ NM_001173990.2(TMEM216):c.35-2A>G http://identifiers.org/clinvar/371759 ^@ NM_001173990.2(TMEM216):c.222delG (p.Phe76Leufs) http://identifiers.org/clinvar/371763 ^@ NM_001173990.2(TMEM216):c.228delT (p.Phe76Leufs) http://identifiers.org/clinvar/371710 ^@ NM_001173990.2(TMEM216):c.228dupT (p.Gly77Trpfs) http://identifiers.org/clinvar/371029 ^@ NM_000543.4(SMPD1):c.151_154delGACT (p.Asp51Leufs) http://identifiers.org/clinvar/370727 ^@ NM_000543.4(SMPD1):c.168G>A (p.Trp56Ter) http://identifiers.org/clinvar/371218 ^@ NM_000543.4(SMPD1):c.193delT (p.Ser65Leufs) http://identifiers.org/clinvar/371001 ^@ NM_000543.4(SMPD1):c.199C>T (p.Gln67Ter) http://identifiers.org/clinvar/370753 ^@ NM_000543.4(SMPD1):c.241C>T (p.Arg81Ter) http://identifiers.org/clinvar/371203 ^@ NM_000543.4(SMPD1):c.419_420delTT (p.Phe140Terfs) http://identifiers.org/clinvar/371341 ^@ NM_000543.4(SMPD1):c.557C>T (p.Pro186Leu) http://identifiers.org/clinvar/371211 ^@ NM_000543.4(SMPD1):c.581delC (p.Pro194Glnfs) http://identifiers.org/clinvar/370432 ^@ NM_000543.4(SMPD1):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/370798 ^@ NM_000543.4(SMPD1):c.730G>T (p.Gly244Ter) http://identifiers.org/clinvar/371576 ^@ NM_000543.4(SMPD1):c.748A>C (p.Ser250Arg) http://identifiers.org/clinvar/371528 ^@ NG_011780.1:g.6418_6419ins8 http://identifiers.org/clinvar/371530 ^@ NM_000543.4(SMPD1):c.994_995delCCinsG (p.Pro332Alafs) http://identifiers.org/clinvar/370363 ^@ NM_000543.4(SMPD1):c.1145_1146delTC (p.Leu382Glnfs) http://identifiers.org/clinvar/370394 ^@ NM_000543.4(SMPD1):c.1264-1G>T http://identifiers.org/clinvar/371590 ^@ NM_000543.4(SMPD1):c.1299_1302delTCTG (p.Cys433Terfs) http://identifiers.org/clinvar/370902 ^@ NM_000543.4(SMPD1):c.1341-1G>A http://identifiers.org/clinvar/371672 ^@ NM_000543.4(SMPD1):c.1341-1G>T http://identifiers.org/clinvar/371347 ^@ NM_000543.4(SMPD1):c.1497_1498delGT (p.Tyr500Profs) http://identifiers.org/clinvar/370493 ^@ NM_000543.4(SMPD1):c.1518C>G (p.Tyr506Ter) http://identifiers.org/clinvar/371458 ^@ NM_000543.4(SMPD1):c.1748C>A (p.Ser583Ter) http://identifiers.org/clinvar/370328 ^@ NM_000543.4(SMPD1):c.1785_1786delTT (p.Ala597Profs) http://identifiers.org/clinvar/370492 ^@ NM_005609.3(PYGM):c.2528G>T (p.Ter843Leu) http://identifiers.org/clinvar/371094 ^@ NM_005609.3(PYGM):c.2352C>A (p.Cys784Ter) http://identifiers.org/clinvar/371165 ^@ NM_005609.3(PYGM):c.2231_2244delAGCAGCTGAGCAGT (p.Glu744Glyfs) http://identifiers.org/clinvar/371180 ^@ NM_005609.3(PYGM):c.2136dupT (p.Gly713Trpfs) http://identifiers.org/clinvar/370572 ^@ NM_005609.3(PYGM):c.1970-1G>A http://identifiers.org/clinvar/370996 ^@ NM_005609.3(PYGM):c.1969+1G>T http://identifiers.org/clinvar/371654 ^@ NM_005609.3(PYGM):c.1827+1G>C http://identifiers.org/clinvar/371363 ^@ NM_005609.3(PYGM):c.1768+2T>G http://identifiers.org/clinvar/370762 ^@ NM_005609.3(PYGM):c.1717G>T (p.Glu573Ter) http://identifiers.org/clinvar/370134 ^@ NM_005609.3(PYGM):c.1680delC (p.Asn561Thrfs) http://identifiers.org/clinvar/370590 ^@ NM_005609.3(PYGM):c.1527_1530delGGAGinsTGA (p.Asp511Thrfs) http://identifiers.org/clinvar/370110 ^@ NM_005609.3(PYGM):c.1092+1G>A http://identifiers.org/clinvar/370414 ^@ NM_005609.3(PYGM):c.528+2T>G http://identifiers.org/clinvar/371601 ^@ NM_005609.3(PYGM):c.445_448delGCAA (p.Ala149Hisfs) http://identifiers.org/clinvar/370481 ^@ NM_005609.3(PYGM):c.425-2A>G http://identifiers.org/clinvar/370224 ^@ NM_005609.3(PYGM):c.251_261delACTACCTGTCT (p.Tyr84Phefs) http://identifiers.org/clinvar/370614 ^@ NM_005609.3(PYGM):c.253delT (p.Tyr85Thrfs) http://identifiers.org/clinvar/371276 ^@ NM_005609.3(PYGM):c.252C>G (p.Tyr84Ter) http://identifiers.org/clinvar/371552 ^@ NM_005609.3(PYGM):c.217C>T (p.Gln73Ter) http://identifiers.org/clinvar/370250 ^@ NM_005609.3(PYGM):c.204G>A (p.Trp68Ter) http://identifiers.org/clinvar/371064 ^@ NM_005609.3(PYGM):c.13_14delCT (p.Leu5Valfs) http://identifiers.org/clinvar/370550 ^@ NM_000391.3(TPP1):c.1661dupC (p.Ala555Serfs) http://identifiers.org/clinvar/370467 ^@ NM_000391.3(TPP1):c.1552-1G>A http://identifiers.org/clinvar/370214 ^@ NM_000391.3(TPP1):c.1551+1G>C http://identifiers.org/clinvar/370140 ^@ NM_000391.3(TPP1):c.1449dupG (p.Ile484Aspfs) http://identifiers.org/clinvar/370212 ^@ NM_000391.3(TPP1):c.1259C>A (p.Ser420Ter) http://identifiers.org/clinvar/370180 ^@ NM_000391.3(TPP1):c.1145+1G>A http://identifiers.org/clinvar/371488 ^@ NM_000391.3(TPP1):c.819delC (p.Ser274Valfs) http://identifiers.org/clinvar/371022 ^@ NM_000391.3(TPP1):c.687+2T>G http://identifiers.org/clinvar/371293 ^@ NM_000391.3(TPP1):c.640C>T (p.Gln214Ter) http://identifiers.org/clinvar/370272 ^@ NM_000391.3(TPP1):c.609dupT (p.Val204Cysfs) http://identifiers.org/clinvar/370662 ^@ NM_000391.3(TPP1):c.230-1G>C http://identifiers.org/clinvar/371141 ^@ NM_024649.4(BBS1):c.48-2A>C http://identifiers.org/clinvar/370386 ^@ NM_024649.4(BBS1):c.124+1G>C http://identifiers.org/clinvar/370462 ^@ NM_024649.4(BBS1):c.159+2T>A http://identifiers.org/clinvar/371100 ^@ NM_024649.4(BBS1):c.182delC (p.Pro61Leufs) http://identifiers.org/clinvar/370389 ^@ NM_024649.4(BBS1):c.223_224delCT (p.Leu75Glyfs) http://identifiers.org/clinvar/370228 ^@ NM_024649.4(BBS1):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/371003 ^@ NM_024649.4(BBS1):c.480-1G>C http://identifiers.org/clinvar/370456 ^@ NM_024649.4(BBS1):c.519-2A>G http://identifiers.org/clinvar/370225 ^@ NM_024649.4(BBS1):c.786delG (p.Ala264Profs) http://identifiers.org/clinvar/371517 ^@ NM_024649.4(BBS1):c.831-2A>G http://identifiers.org/clinvar/370358 ^@ NM_024649.4(BBS1):c.855C>A (p.Cys285Ter) http://identifiers.org/clinvar/371274 ^@ NM_024649.4(BBS1):c.871C>T (p.Gln291Ter) http://identifiers.org/clinvar/370919 ^@ NM_024649.4(BBS1):c.951+1G>A http://identifiers.org/clinvar/370653 ^@ NM_024649.4(BBS1):c.952-1G>A http://identifiers.org/clinvar/370281 ^@ NM_024649.4(BBS1):c.981delC (p.Ala328Glnfs) http://identifiers.org/clinvar/370496 ^@ NM_024649.4(BBS1):c.1072delT (p.Tyr358Ilefs) http://identifiers.org/clinvar/370965 ^@ NM_024649.4(BBS1):c.1423delC (p.Leu475Terfs) http://identifiers.org/clinvar/371133 ^@ NM_024649.4(BBS1):c.1514_1515delTG (p.Leu505Profs) http://identifiers.org/clinvar/371262 ^@ NM_024649.4(BBS1):c.1643dupT (p.Glu549Glyfs) http://identifiers.org/clinvar/371557 ^@ NM_006019.3(TCIRG1):c.1559G>A (p.Trp520Ter) http://identifiers.org/clinvar/370101 ^@ NM_001876.3(CPT1A):c.2071C>T (p.Gln691Ter) http://identifiers.org/clinvar/370829 ^@ NM_001876.3(CPT1A):c.1997_1998insAAAA (p.Tyr666Terfs) http://identifiers.org/clinvar/370557 ^@ NM_001876.3(CPT1A):c.1711C>T (p.Gln571Ter) http://identifiers.org/clinvar/371151 ^@ NM_001876.3(CPT1A):c.1459-1G>A http://identifiers.org/clinvar/371065 ^@ NM_001876.3(CPT1A):c.1386delC (p.Phe462Leufs) http://identifiers.org/clinvar/370194 ^@ NM_001876.3(CPT1A):c.1298delA (p.Asp433Valfs) http://identifiers.org/clinvar/371246 ^@ NM_001876.3(CPT1A):c.1163+1G>A http://identifiers.org/clinvar/370822 ^@ NM_001876.3(CPT1A):c.967+1G>A http://identifiers.org/clinvar/370317 ^@ NM_001876.3(CPT1A):c.919C>T (p.Gln307Ter) http://identifiers.org/clinvar/371403 ^@ NM_001876.3(CPT1A):c.772-2A>G http://identifiers.org/clinvar/370429 ^@ NM_001876.3(CPT1A):c.727C>T (p.Arg243Ter) http://identifiers.org/clinvar/371611 ^@ NM_001876.3(CPT1A):c.693+1G>C http://identifiers.org/clinvar/371333 ^@ NM_001876.3(CPT1A):c.282-1G>A http://identifiers.org/clinvar/370369 ^@ NM_001876.3(CPT1A):c.186G>A (p.Trp62Ter) http://identifiers.org/clinvar/370443 ^@ NM_001360.2(DHCR7):c.1199G>A (p.Trp400Ter) http://identifiers.org/clinvar/370477 ^@ NM_001360.2(DHCR7):c.1080_1081delGT (p.Phe361Profs) http://identifiers.org/clinvar/370598 ^@ NM_001360.2(DHCR7):c.1066delC (p.His356Thrfs) http://identifiers.org/clinvar/370597 ^@ NM_001360.2(DHCR7):c.995delT (p.Leu332Argfs) http://identifiers.org/clinvar/370588 ^@ NM_001360.2(DHCR7):c.991C>T (p.Gln331Ter) http://identifiers.org/clinvar/370286 ^@ NM_001360.2(DHCR7):c.981C>A (p.Tyr327Ter) http://identifiers.org/clinvar/371183 ^@ NM_001360.2(DHCR7):c.963+2T>G http://identifiers.org/clinvar/371059 ^@ NM_001360.2(DHCR7):c.963+1G>T http://identifiers.org/clinvar/370988 ^@ NM_001360.2(DHCR7):c.831+2T>A http://identifiers.org/clinvar/370808 ^@ NM_001360.2(DHCR7):c.804delT (p.Asn268Lysfs) http://identifiers.org/clinvar/371358 ^@ NM_001360.2(DHCR7):c.627-1G>A http://identifiers.org/clinvar/371480 ^@ NM_001360.2(DHCR7):c.413-1G>A http://identifiers.org/clinvar/370449 ^@ NM_001360.2(DHCR7):c.385_412+5del33 http://identifiers.org/clinvar/370573 ^@ NM_001360.2(DHCR7):c.82C>T (p.Gln28Ter) http://identifiers.org/clinvar/371066 ^@ NM_001360.2(DHCR7):c.16C>T (p.Gln6Ter) http://identifiers.org/clinvar/371700 ^@ NM_000260.3(MYO7A):c.2323C>T (p.Gln775Ter) http://identifiers.org/clinvar/371695 ^@ NM_000260.3(MYO7A):c.3262C>T (p.Gln1088Ter) http://identifiers.org/clinvar/370074 ^@ NM_000277.1(PAH):c.1315+1G>T http://identifiers.org/clinvar/370288 ^@ NM_000277.1(PAH):c.1298dupT (p.Leu433Phefs) http://identifiers.org/clinvar/371497 ^@ NM_000277.1(PAH):c.1282C>T (p.Gln428Ter) http://identifiers.org/clinvar/370701 ^@ NM_000277.1(PAH):c.1147C>T (p.Gln383Ter) http://identifiers.org/clinvar/371278 ^@ NM_000277.1(PAH):c.992T>C (p.Phe331Ser) http://identifiers.org/clinvar/371102 ^@ NM_000277.1(PAH):c.790delC (p.His264Thrfs) http://identifiers.org/clinvar/370982 ^@ NM_000277.1(PAH):c.745delC (p.Leu249Phefs) http://identifiers.org/clinvar/371373 ^@ NM_000277.1(PAH):c.498C>G (p.Tyr166Ter) http://identifiers.org/clinvar/370582 ^@ NM_000277.1(PAH):c.352+2dupT http://identifiers.org/clinvar/370308 ^@ NM_000277.1(PAH):c.329delC (p.Ser110Tyrfs) http://identifiers.org/clinvar/371051 ^@ NM_000017.3(ACADS):c.32delG (p.Gly11Alafs) http://identifiers.org/clinvar/370741 ^@ NM_000017.3(ACADS):c.125_135delTCCAGACATGC (p.Leu42Profs) http://identifiers.org/clinvar/370534 ^@ NM_000017.3(ACADS):c.211-1G>A http://identifiers.org/clinvar/370300 ^@ NM_000017.3(ACADS):c.315delC (p.Ser106Alafs) http://identifiers.org/clinvar/370525 ^@ NM_000017.3(ACADS):c.369C>G (p.Tyr123Ter) http://identifiers.org/clinvar/370560 ^@ NM_000017.3(ACADS):c.417G>A (p.Trp139Ter) http://identifiers.org/clinvar/370096 ^@ NM_000017.3(ACADS):c.473-2A>G http://identifiers.org/clinvar/370891 ^@ NM_000017.3(ACADS):c.527C>A (p.Ser176Ter) http://identifiers.org/clinvar/370685 ^@ NM_000017.3(ACADS):c.593_594delTT (p.Phe198Cysfs) http://identifiers.org/clinvar/370372 ^@ NM_000017.3(ACADS):c.675dupG (p.Lys226Glufs) http://identifiers.org/clinvar/370584 ^@ NM_000017.3(ACADS):c.910dupC (p.Leu304Profs) http://identifiers.org/clinvar/370627 ^@ NM_000017.3(ACADS):c.1029+1G>A http://identifiers.org/clinvar/371289 ^@ NM_000017.3(ACADS):c.1031delA (p.Glu344Glyfs) http://identifiers.org/clinvar/370099 ^@ NM_000017.3(ACADS):c.1084C>T (p.Gln362Ter) http://identifiers.org/clinvar/370351 ^@ NM_000017.3(ACADS):c.1164_1165delTG (p.Glu389Aspfs) http://identifiers.org/clinvar/370612 ^@ NM_024685.3(BBS10):c.1959delC (p.Pro655Hisfs) http://identifiers.org/clinvar/370772 ^@ NM_024685.3(BBS10):c.1724delC (p.Pro575Glnfs) http://identifiers.org/clinvar/371499 ^@ NM_024685.3(BBS10):c.1677C>G (p.Tyr559Ter) http://identifiers.org/clinvar/370664 ^@ NM_024685.3(BBS10):c.1664_1668delTAGAA (p.Ile555Asnfs) http://identifiers.org/clinvar/371134 ^@ NM_024685.3(BBS10):c.1542delA (p.Asp515Ilefs) http://identifiers.org/clinvar/370368 ^@ NM_024685.3(BBS10):c.1533delG (p.Thr512Hisfs) http://identifiers.org/clinvar/370512 ^@ NM_024685.3(BBS10):c.1391C>G (p.Ser464Ter) http://identifiers.org/clinvar/371290 ^@ NM_024685.3(BBS10):c.1236_1248delTGCTTTACATGGA (p.Asp412Glufs) http://identifiers.org/clinvar/371354 ^@ NM_024685.3(BBS10):c.1190_1191delTA (p.Ile397Serfs) http://identifiers.org/clinvar/370605 ^@ NM_024685.3(BBS10):c.1056delA (p.Pro353Hisfs) http://identifiers.org/clinvar/370624 ^@ NM_024685.3(BBS10):c.1024delA (p.Ile342Serfs) http://identifiers.org/clinvar/371089 ^@ NM_024685.3(BBS10):c.1012_1013delGA (p.Glu338Serfs) http://identifiers.org/clinvar/370877 ^@ NM_024685.3(BBS10):c.858_859dupTC (p.Gln287Leufs) http://identifiers.org/clinvar/371326 ^@ NM_024685.3(BBS10):c.574C>T (p.Gln192Ter) http://identifiers.org/clinvar/370142 ^@ NM_024685.3(BBS10):c.568_571delATTT (p.Ile190Hisfs) http://identifiers.org/clinvar/370771 ^@ NM_024685.3(BBS10):c.378G>A (p.Trp126Ter) http://identifiers.org/clinvar/371651 ^@ NM_024685.3(BBS10):c.365dupA (p.Asn122Lysfs) http://identifiers.org/clinvar/370109 ^@ NM_024685.3(BBS10):c.361A>T (p.Lys121Ter) http://identifiers.org/clinvar/370703 ^@ NM_024685.3(BBS10):c.299_305delTCACAGA (p.Ile100Thrfs) http://identifiers.org/clinvar/371142 ^@ NM_024685.3(BBS10):c.214_215delGT (p.Val72Phefs) http://identifiers.org/clinvar/370911 ^@ NM_024685.3(BBS10):c.214_215dupGT (p.Ser73Phefs) http://identifiers.org/clinvar/371768 ^@ NM_004004.5(GJB2):c.575_576delCA (p.Thr192Serfs) http://identifiers.org/clinvar/371691 ^@ NM_004004.5(GJB2):c.564_565delGA (p.Lys188Asnfs) http://identifiers.org/clinvar/371755 ^@ NM_004004.5(GJB2):c.514delT (p.Trp172Glyfs) http://identifiers.org/clinvar/371709 ^@ NM_004004.5(GJB2):c.439G>A (p.Glu147Lys) http://identifiers.org/clinvar/371685 ^@ NM_004004.5(GJB2):c.238C>T (p.Gln80Ter) http://identifiers.org/clinvar/371728 ^@ NM_004004.5(GJB2):c.134delG (p.Gly45Glufs) http://identifiers.org/clinvar/371766 ^@ NM_004004.5(GJB2):c.59T>C (p.Ile20Thr) http://identifiers.org/clinvar/371781 ^@ NM_004004.5(GJB2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/371248 ^@ NM_014363.5(SACS):c.13283dupA (p.Tyr4428Terfs) http://identifiers.org/clinvar/370756 ^@ NM_014363.5(SACS):c.13132C>T (p.Arg4378Ter) http://identifiers.org/clinvar/371466 ^@ NM_014363.5(SACS):c.12923_12927delAAGAA (p.Lys4308Serfs) http://identifiers.org/clinvar/370248 ^@ NM_014363.5(SACS):c.12540delA (p.Glu4180Aspfs) http://identifiers.org/clinvar/371386 ^@ NM_014363.5(SACS):c.11731delA (p.Ser3911Alafs) http://identifiers.org/clinvar/370283 ^@ NM_014363.5(SACS):c.11374C>T (p.Arg3792Ter) http://identifiers.org/clinvar/371392 ^@ NM_014363.5(SACS):c.11247_11250delCAAT (p.Asn3750Thrfs) http://identifiers.org/clinvar/370320 ^@ NM_014363.5(SACS):c.11185C>T (p.Gln3729Ter) http://identifiers.org/clinvar/370905 ^@ NM_014363.5(SACS):c.11081dupG (p.Cys3694Trpfs) http://identifiers.org/clinvar/370353 ^@ NM_014363.5(SACS):c.11042dupA (p.Phe3682Valfs) http://identifiers.org/clinvar/370549 ^@ NM_014363.5(SACS):c.10864C>T (p.Gln3622Ter) http://identifiers.org/clinvar/370796 ^@ NM_014363.5(SACS):c.10854delA (p.Glu3619Lysfs) http://identifiers.org/clinvar/371095 ^@ NM_014363.5(SACS):c.10804C>T (p.Gln3602Ter) http://identifiers.org/clinvar/370696 ^@ NM_014363.5(SACS):c.10686_10689delCTTT (p.Phe3562Leufs) http://identifiers.org/clinvar/370231 ^@ NM_014363.5(SACS):c.10497C>A (p.Tyr3499Ter) http://identifiers.org/clinvar/371410 ^@ NM_014363.5(SACS):c.10136T>G (p.Leu3379Ter) http://identifiers.org/clinvar/371582 ^@ NM_014363.5(SACS):c.10090delG (p.Ala3364Leufs) http://identifiers.org/clinvar/370406 ^@ NM_014363.5(SACS):c.9818_9831delATACTCTAAAAGAC (p.Asp3273Valfs) http://identifiers.org/clinvar/371537 ^@ NM_014363.5(SACS):c.9390_9391delTA (p.His3130Glnfs) http://identifiers.org/clinvar/370930 ^@ NM_014363.5(SACS):c.9377dupT (p.Leu3128Thrfs) http://identifiers.org/clinvar/371167 ^@ NM_014363.5(SACS):c.9088_9089dupTT (p.Leu3030Phefs) http://identifiers.org/clinvar/371179 ^@ NM_014363.5(SACS):c.8873delA (p.Lys2958Serfs) http://identifiers.org/clinvar/370900 ^@ NM_014363.5(SACS):c.8867T>A (p.Leu2956Ter) http://identifiers.org/clinvar/371116 ^@ NM_014363.5(SACS):c.8733_8734delCA (p.Asn2911Lysfs) http://identifiers.org/clinvar/371196 ^@ NM_014363.5(SACS):c.8621_8624delCTTT (p.Ser2874Trpfs) http://identifiers.org/clinvar/371360 ^@ NM_014363.5(SACS):c.8612dupT (p.Leu2871Phefs) http://identifiers.org/clinvar/371109 ^@ NM_014363.5(SACS):c.7861C>T (p.Gln2621Ter) http://identifiers.org/clinvar/371485 ^@ NM_014363.5(SACS):c.7844delA (p.Asn2615Ilefs) http://identifiers.org/clinvar/371043 ^@ NM_014363.5(SACS):c.7788delT (p.Phe2596Leufs) http://identifiers.org/clinvar/370374 ^@ NM_014363.5(SACS):c.7521_7524delAAGA (p.Glu2507Aspfs) http://identifiers.org/clinvar/371666 ^@ NM_014363.5(SACS):c.7494_7504delAGTCCCAAAGC (p.Val2499Thrfs) http://identifiers.org/clinvar/370859 ^@ NM_014363.5(SACS):c.7394C>A (p.Ser2465Ter) http://identifiers.org/clinvar/370415 ^@ NM_014363.5(SACS):c.7273C>T (p.Arg2425Ter) http://identifiers.org/clinvar/370689 ^@ NM_014363.5(SACS):c.7139delA (p.Asn2380Ilefs) http://identifiers.org/clinvar/371374 ^@ NM_014363.5(SACS):c.7114dupT (p.Tyr2372Leufs) http://identifiers.org/clinvar/371474 ^@ NM_014363.5(SACS):c.6804delT (p.Phe2268Leufs) http://identifiers.org/clinvar/371002 ^@ NM_014363.5(SACS):c.6757dupA (p.Ile2253Asnfs) http://identifiers.org/clinvar/370621 ^@ NM_014363.5(SACS):c.6448_6452delCAGTT (p.Gln2150Argfs) http://identifiers.org/clinvar/370182 ^@ NM_014363.5(SACS):c.6320delT (p.Leu2107Trpfs) http://identifiers.org/clinvar/371558 ^@ NM_014363.5(SACS):c.6221delA (p.Asp2074Valfs) http://identifiers.org/clinvar/371219 ^@ NM_014363.5(SACS):c.5784dupA (p.Arg1929Thrfs) http://identifiers.org/clinvar/371031 ^@ NM_014363.5(SACS):c.5764_5767delTTAC (p.Leu1922Argfs) http://identifiers.org/clinvar/371265 ^@ NM_014363.5(SACS):c.5744_5745delAT (p.His1915Argfs) http://identifiers.org/clinvar/371545 ^@ NM_014363.5(SACS):c.5629C>T (p.Arg1877Ter) http://identifiers.org/clinvar/371312 ^@ NM_014363.5(SACS):c.5469C>A (p.Cys1823Ter) http://identifiers.org/clinvar/371470 ^@ NM_014363.5(SACS):c.5379delT (p.Phe1793Leufs) http://identifiers.org/clinvar/371484 ^@ NM_014363.5(SACS):c.5125C>T (p.Gln1709Ter) http://identifiers.org/clinvar/371478 ^@ NM_014363.5(SACS):c.5073_5074dupGT (p.Ser1692Cysfs) http://identifiers.org/clinvar/370551 ^@ NM_014363.5(SACS):c.4894_4897delACTG (p.Thr1632Terfs) http://identifiers.org/clinvar/370168 ^@ NM_014363.5(SACS):c.4760delA (p.His1587Leufs) http://identifiers.org/clinvar/371012 ^@ NM_014363.5(SACS):c.4593dupA (p.Asp1532Argfs) http://identifiers.org/clinvar/370181 ^@ NM_014363.5(SACS):c.4465_4471delAATGCAA (p.Asn1489Glnfs) http://identifiers.org/clinvar/371000 ^@ NM_014363.5(SACS):c.4298G>A (p.Trp1433Ter) http://identifiers.org/clinvar/370803 ^@ NM_014363.5(SACS):c.4095G>A (p.Trp1365Ter) http://identifiers.org/clinvar/370086 ^@ NM_014363.5(SACS):c.4039delC (p.Leu1347Serfs) http://identifiers.org/clinvar/371143 ^@ NM_014363.5(SACS):c.3356delC (p.Pro1119Leufs) http://identifiers.org/clinvar/370516 ^@ NM_014363.5(SACS):c.3195_3196delTT (p.Phe1065Leufs) http://identifiers.org/clinvar/370786 ^@ NM_014363.5(SACS):c.3066delT (p.Asn1025Metfs) http://identifiers.org/clinvar/371600 ^@ NM_014363.5(SACS):c.2957T>A (p.Leu986Ter) http://identifiers.org/clinvar/371137 ^@ NM_014363.5(SACS):c.2913_2914dupTG (p.Glu972Valfs) http://identifiers.org/clinvar/370607 ^@ NM_014363.5(SACS):c.2870delC (p.Pro957Glnfs) http://identifiers.org/clinvar/370869 ^@ NM_014363.5(SACS):c.2629_2630dupTT (p.Leu877Phefs) http://identifiers.org/clinvar/371646 ^@ NM_014363.5(SACS):c.2330C>A (p.Ser777Ter) http://identifiers.org/clinvar/371456 ^@ NM_014363.5(SACS):c.2224C>T (p.Arg742Ter) http://identifiers.org/clinvar/370521 ^@ NM_014363.5(SACS):c.2186-2A>G http://identifiers.org/clinvar/370088 ^@ NM_014363.5(SACS):c.2076delC (p.Ser693Glnfs) http://identifiers.org/clinvar/370507 ^@ NM_014363.5(SACS):c.1681delG (p.Val561Terfs) http://identifiers.org/clinvar/370332 ^@ NM_014363.5(SACS):c.1276_1277dupTT (p.Leu426Phefs) http://identifiers.org/clinvar/370271 ^@ NM_014363.5(SACS):c.1228_1229delTT (p.Leu410Serfs) http://identifiers.org/clinvar/370608 ^@ NM_014363.5(SACS):c.1189_1190delAG (p.Ser397Cysfs) http://identifiers.org/clinvar/371078 ^@ NM_014363.5(SACS):c.1137dupA (p.Glu380Argfs) http://identifiers.org/clinvar/371399 ^@ NM_014363.5(SACS):c.1085delA (p.Lys362Argfs) http://identifiers.org/clinvar/370860 ^@ NM_014363.5(SACS):c.468_469insG (p.Tyr157Valfs) http://identifiers.org/clinvar/370878 ^@ NM_014363.5(SACS):c.29delC (p.Pro10Argfs) http://identifiers.org/clinvar/370666 ^@ NM_014363.5(SACS):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/371337 ^@ NM_000053.3(ATP7B):c.4242delC (p.Arg1415Glyfs) http://identifiers.org/clinvar/371170 ^@ NM_000053.3(ATP7B):c.4114C>T (p.Gln1372Ter) http://identifiers.org/clinvar/371438 ^@ NM_000053.3(ATP7B):c.4092_4093delGT (p.Ser1365Cysfs) http://identifiers.org/clinvar/370093 ^@ NM_000053.3(ATP7B):c.3948delG (p.Thr1317Leufs) http://identifiers.org/clinvar/370092 ^@ NM_000053.3(ATP7B):c.3942_3943delCA (p.Lys1315Glufs) http://identifiers.org/clinvar/371387 ^@ NM_000053.3(ATP7B):c.3904-2A>G http://identifiers.org/clinvar/370749 ^@ NM_000053.3(ATP7B):c.3800delA (p.Asp1267Valfs) http://identifiers.org/clinvar/370427 ^@ NM_000053.3(ATP7B):c.3529C>T (p.Gln1177Ter) http://identifiers.org/clinvar/370151 ^@ NM_000053.3(ATP7B):c.3426G>C (p.Gln1142His) http://identifiers.org/clinvar/371498 ^@ NM_000053.3(ATP7B):c.3317T>A (p.Val1106Asp) http://identifiers.org/clinvar/370820 ^@ NM_000053.3(ATP7B):c.3295G>A (p.Gly1099Ser) http://identifiers.org/clinvar/370081 ^@ NM_000053.3(ATP7B):c.3191A>C (p.Glu1064Ala) http://identifiers.org/clinvar/371021 ^@ NM_000053.3(ATP7B):c.3104G>T (p.Gly1035Val) http://identifiers.org/clinvar/371483 ^@ NM_000053.3(ATP7B):c.2817G>T (p.Trp939Cys) http://identifiers.org/clinvar/370632 ^@ NM_000053.3(ATP7B):c.2810delT (p.Val937Glyfs) http://identifiers.org/clinvar/370356 ^@ NM_000053.3(ATP7B):c.2730+1G>A http://identifiers.org/clinvar/370740 ^@ NM_000053.3(ATP7B):c.2447+1delG http://identifiers.org/clinvar/370887 ^@ NM_000053.3(ATP7B):c.2303C>T (p.Pro768Leu) http://identifiers.org/clinvar/370295 ^@ NM_000053.3(ATP7B):c.2157C>A (p.Tyr719Ter) http://identifiers.org/clinvar/371013 ^@ NM_000053.3(ATP7B):c.1820dupA (p.Phe608Valfs) http://identifiers.org/clinvar/370955 ^@ NM_000053.3(ATP7B):c.1716delG (p.Met573Terfs) http://identifiers.org/clinvar/370195 ^@ NM_000053.3(ATP7B):c.1708-1G>A http://identifiers.org/clinvar/371120 ^@ NM_000053.3(ATP7B):c.1708-2A>G http://identifiers.org/clinvar/370348 ^@ NM_000053.3(ATP7B):c.1512dupT (p.Asn505Terfs) http://identifiers.org/clinvar/370319 ^@ NM_000053.3(ATP7B):c.1470C>A (p.Cys490Ter) http://identifiers.org/clinvar/370196 ^@ NM_000053.3(ATP7B):c.1372G>T (p.Glu458Ter) http://identifiers.org/clinvar/371656 ^@ NM_000053.3(ATP7B):c.1340_1343delAAAC (p.Gln447Leufs) http://identifiers.org/clinvar/371270 ^@ NM_000053.3(ATP7B):c.1337_1338insTT (p.Gln447Cysfs) http://identifiers.org/clinvar/370306 ^@ NM_000053.3(ATP7B):c.525dupA (p.Val176Serfs) http://identifiers.org/clinvar/371584 ^@ NM_000053.3(ATP7B):c.388_389dupGC (p.Ala131Glnfs) http://identifiers.org/clinvar/370529 ^@ NM_000053.3(ATP7B):c.174dupC (p.Thr59Hisfs) http://identifiers.org/clinvar/370475 ^@ NM_000053.3(ATP7B):c.103A>T (p.Lys35Ter) http://identifiers.org/clinvar/371539 ^@ NM_000053.3(ATP7B):c.52-1G>T http://identifiers.org/clinvar/370851 ^@ NM_006493.2(CLN5):c.220_221delTCinsG (p.Ser74Alafs) http://identifiers.org/clinvar/370084 ^@ NM_006493.2(CLN5):c.280_281delTC (p.Ser94Glyfs) http://identifiers.org/clinvar/371261 ^@ NM_006493.2(CLN5):c.302_314delACTGGCCGGTGCC (p.His101Profs) http://identifiers.org/clinvar/370310 ^@ NM_006493.2(CLN5):c.487-1delG http://identifiers.org/clinvar/371570 ^@ NM_006493.2(CLN5):c.940G>T (p.Glu314Ter) http://identifiers.org/clinvar/370765 ^@ NM_006493.2(CLN5):c.1105C>T (p.Gln369Ter) http://identifiers.org/clinvar/370392 ^@ NM_000153.3(GALC):c.1890T>A (p.Tyr630Ter) http://identifiers.org/clinvar/370366 ^@ NM_000153.3(GALC):c.1851delT (p.Tyr617Terfs) http://identifiers.org/clinvar/371136 ^@ NM_000153.3(GALC):c.1837G>T (p.Gly613Ter) http://identifiers.org/clinvar/370570 ^@ NM_000153.3(GALC):c.1670+1G>A http://identifiers.org/clinvar/370073 ^@ NM_000153.3(GALC):c.1586C>T (p.Thr529Met) http://identifiers.org/clinvar/371198 ^@ NM_000153.3(GALC):c.1426dupA (p.Ser476Lysfs) http://identifiers.org/clinvar/371567 ^@ NM_000153.3(GALC):c.1272_1273insTAG (p.Val425_Arg685del) http://identifiers.org/clinvar/370314 ^@ NM_000153.3(GALC):c.1273delG (p.Val425Tyrfs) http://identifiers.org/clinvar/370148 ^@ NM_000153.3(GALC):c.1065G>A (p.Trp355Ter) http://identifiers.org/clinvar/371581 ^@ NM_000153.3(GALC):c.1021delG (p.Val341Serfs) http://identifiers.org/clinvar/370416 ^@ NM_000153.3(GALC):c.1012delG (p.Glu338Asnfs) http://identifiers.org/clinvar/370842 ^@ NM_000153.3(GALC):c.972delG (p.Met325Terfs) http://identifiers.org/clinvar/370631 ^@ NM_000153.3(GALC):c.952C>G (p.Pro318Ala) http://identifiers.org/clinvar/370367 ^@ NM_000153.3(GALC):c.946C>T (p.Gln316Ter) http://identifiers.org/clinvar/371521 ^@ NM_000153.3(GALC):c.533G>A (p.Trp178Ter) http://identifiers.org/clinvar/371327 ^@ NM_000153.3(GALC):c.467_468dupGG (p.Leu157Glyfs) http://identifiers.org/clinvar/370618 ^@ NM_000153.3(GALC):c.442+2T>G http://identifiers.org/clinvar/370670 ^@ NM_000153.3(GALC):c.415A>T (p.Lys139Ter) http://identifiers.org/clinvar/370833 ^@ NM_000153.3(GALC):c.328+1G>T http://identifiers.org/clinvar/371332 ^@ NM_000153.3(GALC):c.190_195+9del15 http://identifiers.org/clinvar/370855 ^@ NM_000153.3(GALC):c.129C>G (p.Tyr43Ter) http://identifiers.org/clinvar/370999 ^@ NM_000295.4(SERPINA1):c.1018delG (p.Ala340Leufs) http://identifiers.org/clinvar/370385 ^@ NM_000295.4(SERPINA1):c.714delC (p.Thr239Profs) http://identifiers.org/clinvar/371244 ^@ NM_000295.4(SERPINA1):c.646+2T>C http://identifiers.org/clinvar/371266 ^@ NM_000295.4(SERPINA1):c.186C>A (p.Tyr62Ter) http://identifiers.org/clinvar/370792 ^@ NM_000295.4(SERPINA1):c.21G>A (p.Trp7Ter) http://identifiers.org/clinvar/370522 ^@ NM_000295.4(SERPINA1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/370769 ^@ NM_005135.2(SLC12A6):c.3151_3155delAAGCT (p.Lys1051Glyfs) http://identifiers.org/clinvar/371054 ^@ NM_133647.1(SLC12A6):c.3227+1G>A http://identifiers.org/clinvar/371461 ^@ NM_133647.1(SLC12A6):c.3220dupA (p.Met1074Asnfs) http://identifiers.org/clinvar/371519 ^@ NM_005135.2(SLC12A6):c.2797_2806delTCAGCATATA (p.Ser933Leufs) http://identifiers.org/clinvar/370137 ^@ NM_133647.1(SLC12A6):c.2809C>T (p.Arg937Ter) http://identifiers.org/clinvar/370291 ^@ NM_133647.1(SLC12A6):c.2803-1G>T http://identifiers.org/clinvar/370290 ^@ NM_133647.1(SLC12A6):c.2803-1G>C http://identifiers.org/clinvar/370994 ^@ NM_133647.1(SLC12A6):c.2632+1G>A http://identifiers.org/clinvar/370235 ^@ NM_133647.1(SLC12A6):c.2437-2A>G http://identifiers.org/clinvar/370371 ^@ NM_133647.1(SLC12A6):c.2423dupT (p.Leu808Phefs) http://identifiers.org/clinvar/370149 ^@ NM_133647.1(SLC12A6):c.2416G>T (p.Glu806Ter) http://identifiers.org/clinvar/370139 ^@ NM_133647.1(SLC12A6):c.1118+1G>A http://identifiers.org/clinvar/370595 ^@ NM_133647.1(SLC12A6):c.963C>A (p.Tyr321Ter) http://identifiers.org/clinvar/370396 ^@ NM_133647.1(SLC12A6):c.655C>T (p.Gln219Ter) http://identifiers.org/clinvar/370961 ^@ NM_133647.1(SLC12A6):c.630G>A (p.Trp210Ter) http://identifiers.org/clinvar/371230 ^@ NM_133647.1(SLC12A6):c.550dupC (p.Gln184Profs) http://identifiers.org/clinvar/370269 ^@ NM_133647.1(SLC12A6):c.298G>T (p.Glu100Ter) http://identifiers.org/clinvar/371578 ^@ NM_002225.3(IVD):c.111_112delCG (p.Val38Glyfs) http://identifiers.org/clinvar/370705 ^@ NM_002225.3(IVD):c.153+1G>A http://identifiers.org/clinvar/370843 ^@ NM_002225.3(IVD):c.158G>A (p.Arg53His) http://identifiers.org/clinvar/370807 ^@ NM_002225.3(IVD):c.241C>T (p.Arg81Ter) http://identifiers.org/clinvar/371148 ^@ NM_002225.3(IVD):c.560-1G>A http://identifiers.org/clinvar/370789 ^@ NM_002225.3(IVD):c.753dupT (p.Asn252Terfs) http://identifiers.org/clinvar/371161 ^@ NM_002225.3(IVD):c.970-2A>G http://identifiers.org/clinvar/371390 ^@ NM_002225.3(IVD):c.1208A>G (p.Tyr403Cys) http://identifiers.org/clinvar/371169 ^@ NM_000520.5(HEXA):c.1421G>A (p.Trp474Ter) http://identifiers.org/clinvar/371490 ^@ NM_000520.5(HEXA):c.1330+1G>A http://identifiers.org/clinvar/370596 ^@ NM_000520.5(HEXA):c.1150C>T (p.Gln384Ter) http://identifiers.org/clinvar/370773 ^@ NM_000520.5(HEXA):c.1043_1046delTCAA (p.Phe348Cysfs) http://identifiers.org/clinvar/370974 ^@ NM_000520.5(HEXA):c.806-1G>C http://identifiers.org/clinvar/370659 ^@ NM_000520.5(HEXA):c.709C>T (p.Gln237Ter) http://identifiers.org/clinvar/370895 ^@ NM_000520.5(HEXA):c.465delT (p.Phe155Leufs) http://identifiers.org/clinvar/371314 ^@ NM_000520.5(HEXA):c.436delG (p.Val146Phefs) http://identifiers.org/clinvar/371534 ^@ NM_000520.5(HEXA):c.253+1G>A http://identifiers.org/clinvar/371041 ^@ NM_000520.5(HEXA):c.196C>T (p.Gln66Ter) http://identifiers.org/clinvar/370628 ^@ NM_000520.5(HEXA):c.183_193delCGACGAGGCCT (p.Asp62Profs) http://identifiers.org/clinvar/371633 ^@ NM_000520.5(HEXA):c.82C>T (p.Gln28Ter) http://identifiers.org/clinvar/371468 ^@ NM_000520.5(HEXA):c.60_61dupGA (p.Thr21Argfs) http://identifiers.org/clinvar/370326 ^@ NM_000520.5(HEXA):c.26C>A (p.Ser9Ter) http://identifiers.org/clinvar/371536 ^@ NM_000520.5(HEXA):c.24_25delTT (p.Ser9Alafs) http://identifiers.org/clinvar/370410 ^@ NM_002435.2(MPI):c.120delC (p.Ile40Metfs) http://identifiers.org/clinvar/370541 ^@ NM_002435.2(MPI):c.145-1G>A http://identifiers.org/clinvar/370515 ^@ NM_002435.2(MPI):c.487+2delT http://identifiers.org/clinvar/371308 ^@ NM_002435.2(MPI):c.488-1G>A http://identifiers.org/clinvar/371556 ^@ NM_002435.2(MPI):c.488-1G>C http://identifiers.org/clinvar/370355 ^@ NM_002435.2(MPI):c.652A>T (p.Lys218Ter) http://identifiers.org/clinvar/370615 ^@ NM_002435.2(MPI):c.727C>T (p.Gln243Ter) http://identifiers.org/clinvar/371237 ^@ NM_002435.2(MPI):c.740delG (p.Gly247Valfs) http://identifiers.org/clinvar/371005 ^@ NM_000137.2(FAH):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/371526 ^@ NM_000137.2(FAH):c.14delC (p.Pro5Argfs) http://identifiers.org/clinvar/370962 ^@ NM_000137.2(FAH):c.81+2T>C http://identifiers.org/clinvar/370334 ^@ NM_000137.2(FAH):c.314+1G>A http://identifiers.org/clinvar/370316 ^@ NM_000137.2(FAH):c.438delT (p.Asn146Lysfs) http://identifiers.org/clinvar/370677 ^@ NM_000137.2(FAH):c.455G>A (p.Trp152Ter) http://identifiers.org/clinvar/370684 ^@ NM_000137.2(FAH):c.461_491del31 (p.His154Profs) http://identifiers.org/clinvar/371234 ^@ NM_000137.2(FAH):c.492delC (p.Ser165Leufs) http://identifiers.org/clinvar/371201 ^@ NM_000137.2(FAH):c.615delT (p.Phe205Leufs) http://identifiers.org/clinvar/370275 ^@ NM_000137.2(FAH):c.744delG (p.Pro249Hisfs) http://identifiers.org/clinvar/371645 ^@ NM_000137.2(FAH):c.780_781delTC (p.Pro261Valfs) http://identifiers.org/clinvar/371348 ^@ NM_000137.2(FAH):c.960+1G>A http://identifiers.org/clinvar/370230 ^@ NM_000137.2(FAH):c.1181-1G>A http://identifiers.org/clinvar/371623 ^@ NM_000137.2(FAH):c.1258T>C (p.Ter420Arg) http://identifiers.org/clinvar/370617 ^@ NM_000137.2(FAH):c.1258T>G (p.Ter420Gly) http://identifiers.org/clinvar/370566 ^@ NM_000057.3(BLM):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/371055 ^@ NM_000057.3(BLM):c.98+1G>A http://identifiers.org/clinvar/370200 ^@ NM_000057.3(BLM):c.98+1G>T http://identifiers.org/clinvar/371569 ^@ NM_000057.3(BLM):c.298_299delCA (p.Gln100Glufs) http://identifiers.org/clinvar/370185 ^@ NM_000057.3(BLM):c.443dupT (p.Leu148Phefs) http://identifiers.org/clinvar/371382 ^@ NM_000057.3(BLM):c.662_665delCTGA (p.Thr221Argfs) http://identifiers.org/clinvar/371550 ^@ NM_000057.3(BLM):c.1003_1006dupCTTA (p.Ser336Thrfs) http://identifiers.org/clinvar/371130 ^@ NM_000057.3(BLM):c.1083_1084delTG (p.Cys361Terfs) http://identifiers.org/clinvar/371048 ^@ NM_000057.3(BLM):c.1284G>A (p.Trp428Ter) http://identifiers.org/clinvar/371108 ^@ NM_000057.3(BLM):c.1479_1480delTA (p.Thr494Profs) http://identifiers.org/clinvar/370265 ^@ NM_000057.3(BLM):c.1720_1735del16 (p.Ala575Profs) http://identifiers.org/clinvar/371432 ^@ NM_000057.3(BLM):c.1722_1725delAGCAinsGGC (p.Ala576Profs) http://identifiers.org/clinvar/371641 ^@ NM_000057.3(BLM):c.1740delC (p.Thr581Glnfs) http://identifiers.org/clinvar/371040 ^@ NM_000057.3(BLM):c.1764_1777delGGAAGGTCGGCCAA (p.Lys588Asnfs) http://identifiers.org/clinvar/371640 ^@ NM_000057.3(BLM):c.1795delA (p.Arg599Aspfs) http://identifiers.org/clinvar/370390 ^@ NM_000057.3(BLM):c.2720_2726delCGTTACA (p.Thr907Argfs) http://identifiers.org/clinvar/370702 ^@ NM_000057.3(BLM):c.2821C>T (p.Gln941Ter) http://identifiers.org/clinvar/371621 ^@ NM_000057.3(BLM):c.2824-2A>T http://identifiers.org/clinvar/370723 ^@ NM_000057.3(BLM):c.3022delG (p.Glu1008Lysfs) http://identifiers.org/clinvar/370126 ^@ NM_000057.3(BLM):c.3305_3306delAT (p.His1102Argfs) http://identifiers.org/clinvar/370797 ^@ NM_000057.3(BLM):c.3400G>T (p.Gly1134Ter) http://identifiers.org/clinvar/370511 ^@ NM_000057.3(BLM):c.3638delA (p.Glu1213Glyfs) http://identifiers.org/clinvar/371288 ^@ NM_000057.3(BLM):c.3667dupA (p.Thr1223Asnfs) http://identifiers.org/clinvar/370736 ^@ NM_000057.3(BLM):c.3855C>A (p.Tyr1285Ter) http://identifiers.org/clinvar/370814 ^@ NM_000057.3(BLM):c.3875-2A>G http://identifiers.org/clinvar/370136 ^@ NM_000057.3(BLM):c.4000_4004delAGGAA (p.Arg1334Glufs) http://identifiers.org/clinvar/370675 ^@ NM_001042432.1(CLN3):c.1059C>A (p.Cys353Ter) http://identifiers.org/clinvar/370667 ^@ NM_001042432.1(CLN3):c.963-1G>A http://identifiers.org/clinvar/370144 ^@ NM_001042432.1(CLN3):c.962+1G>A http://identifiers.org/clinvar/370455 ^@ NM_001042432.1(CLN3):c.906+2T>A http://identifiers.org/clinvar/371538 ^@ NM_001042432.1(CLN3):c.791-1G>A http://identifiers.org/clinvar/370233 ^@ NM_001042432.1(CLN3):c.683dupT (p.Leu230Valfs) http://identifiers.org/clinvar/371459 ^@ NM_001042432.1(CLN3):c.677+1G>T http://identifiers.org/clinvar/371364 ^@ NM_001042432.1(CLN3):c.281_282delCT (p.Ser94Cysfs) http://identifiers.org/clinvar/370243 ^@ NM_001042432.1(CLN3):c.46+1G>A http://identifiers.org/clinvar/371317 ^@ NM_001042432.1(CLN3):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/370943 ^@ NM_031885.3(BBS2):c.1237C>T (p.Arg413Ter) http://identifiers.org/clinvar/371018 ^@ NM_000303.2(PMM2):c.27C>A (p.Cys9Ter) http://identifiers.org/clinvar/370853 ^@ NM_000303.2(PMM2):c.189delA (p.Lys63Asnfs) http://identifiers.org/clinvar/371307 ^@ NM_000303.2(PMM2):c.205C>T (p.Pro69Ser) http://identifiers.org/clinvar/370282 ^@ NM_000303.2(PMM2):c.256-2A>G http://identifiers.org/clinvar/370776 ^@ NM_000303.2(PMM2):c.345dupG (p.Arg116Glufs) http://identifiers.org/clinvar/371239 ^@ NM_000303.2(PMM2):c.347+1G>A http://identifiers.org/clinvar/371231 ^@ NM_000303.2(PMM2):c.355T>C (p.Phe119Leu) http://identifiers.org/clinvar/370287 ^@ NM_000303.2(PMM2):c.414delA (p.Glu139Lysfs) http://identifiers.org/clinvar/371406 ^@ NM_000303.2(PMM2):c.458T>C (p.Ile153Thr) http://identifiers.org/clinvar/370217 ^@ NM_000303.2(PMM2):c.511dupA (p.Thr171Asnfs) http://identifiers.org/clinvar/370944 ^@ NM_000303.2(PMM2):c.560G>A (p.Trp187Ter) http://identifiers.org/clinvar/371325 ^@ NM_000303.2(PMM2):c.639+1G>A http://identifiers.org/clinvar/370466 ^@ NM_000135.2(FANCA):c.3761_3762delAG (p.Glu1254Glyfs) http://identifiers.org/clinvar/371093 ^@ NM_000135.2(FANCA):c.811C>T (p.Gln271Ter) http://identifiers.org/clinvar/370361 ^@ NM_000135.2(FANCA):c.295C>T (p.Gln99Ter) http://identifiers.org/clinvar/371668 ^@ NM_000135.2(FANCA):c.154C>T (p.Arg52Ter) http://identifiers.org/clinvar/371103 ^@ NM_000382.2(ALDH3A2):c.25_50del26 (p.Arg9Alafs) http://identifiers.org/clinvar/371604 ^@ NM_000382.2(ALDH3A2):c.151_152delAA (p.Lys51Glufs) http://identifiers.org/clinvar/370913 ^@ NM_000382.2(ALDH3A2):c.153+2T>G http://identifiers.org/clinvar/370301 ^@ NM_000382.2(ALDH3A2):c.231delA (p.Glu77Aspfs) http://identifiers.org/clinvar/370209 ^@ NM_000382.2(ALDH3A2):c.234G>A (p.Trp78Ter) http://identifiers.org/clinvar/370430 ^@ NM_000382.2(ALDH3A2):c.281dupA (p.Ala95Glyfs) http://identifiers.org/clinvar/370896 ^@ NM_000382.2(ALDH3A2):c.577delG (p.Val193Serfs) http://identifiers.org/clinvar/371336 ^@ NM_000382.2(ALDH3A2):c.769dupA (p.Ile257Asnfs) http://identifiers.org/clinvar/371446 ^@ NM_000382.2(ALDH3A2):c.798+1G>A http://identifiers.org/clinvar/371540 ^@ NM_000382.2(ALDH3A2):c.798+1_798+6del6 http://identifiers.org/clinvar/371195 ^@ NM_000382.2(ALDH3A2):c.798+1delG http://identifiers.org/clinvar/370813 ^@ NM_000382.2(ALDH3A2):c.824_825delAG (p.Glu275Valfs) http://identifiers.org/clinvar/371221 ^@ NM_000382.2(ALDH3A2):c.1094C>T (p.Ser365Leu) http://identifiers.org/clinvar/370751 ^@ NM_000382.2(ALDH3A2):c.1108-2A>G http://identifiers.org/clinvar/370452 ^@ NM_000382.2(ALDH3A2):c.1108-1G>C http://identifiers.org/clinvar/370471 ^@ NM_000382.2(ALDH3A2):c.1108-1G>T http://identifiers.org/clinvar/371472 ^@ NM_000382.2(ALDH3A2):c.1302dupT (p.Ala435Cysfs) http://identifiers.org/clinvar/371097 ^@ NM_000382.2(ALDH3A2):c.1444-1G>T http://identifiers.org/clinvar/370934 ^@ NM_000049.2(ASPA):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/371463 ^@ NM_000049.2(ASPA):c.237-1G>T http://identifiers.org/clinvar/370554 ^@ NM_000049.2(ASPA):c.244dupA (p.Met82Asnfs) http://identifiers.org/clinvar/371046 ^@ NM_000049.2(ASPA):c.245delT (p.Met82Serfs) http://identifiers.org/clinvar/370344 ^@ NM_000049.2(ASPA):c.640G>T (p.Glu214Ter) http://identifiers.org/clinvar/370450 ^@ NM_000049.2(ASPA):c.650_651delCC (p.Pro217Leufs) http://identifiers.org/clinvar/370207 ^@ NM_000049.2(ASPA):c.697delC (p.Arg233Glyfs) http://identifiers.org/clinvar/371086 ^@ NM_000049.2(ASPA):c.731A>G (p.His244Arg) http://identifiers.org/clinvar/371178 ^@ NM_000049.2(ASPA):c.745-2A>G http://identifiers.org/clinvar/371202 ^@ NM_000049.2(ASPA):c.827_828delGT (p.Cys276Tyrfs) http://identifiers.org/clinvar/370795 ^@ NM_000049.2(ASPA):c.867C>A (p.Tyr289Ter) http://identifiers.org/clinvar/371665 ^@ NM_000049.2(ASPA):c.876_879delAGAA (p.Glu293Leufs) http://identifiers.org/clinvar/370201 ^@ NM_000049.2(ASPA):c.922delA (p.Ile308Phefs) http://identifiers.org/clinvar/371424 ^@ NM_000049.2(ASPA):c.924delT (p.Arg309Alafs) http://identifiers.org/clinvar/371737 ^@ NM_000286.2(PEX12):c.730_733dupGCCT (p.Leu245Cysfs) http://identifiers.org/clinvar/371738 ^@ NM_000286.2(PEX12):c.684_687delTAGT (p.Ser229Argfs) http://identifiers.org/clinvar/371718 ^@ NM_000286.2(PEX12):c.126+1G>T http://identifiers.org/clinvar/370183 ^@ NM_004937.2(CTNS):c.251delA (p.Asn84Thrfs) http://identifiers.org/clinvar/371171 ^@ NM_004937.2(CTNS):c.329+2T>C http://identifiers.org/clinvar/371212 ^@ NM_004937.2(CTNS):c.519_520delCA (p.Tyr173Terfs) http://identifiers.org/clinvar/371084 ^@ NM_004937.2(CTNS):c.646dupA (p.Thr216Asnfs) http://identifiers.org/clinvar/370728 ^@ NM_004937.2(CTNS):c.681+2T>C http://identifiers.org/clinvar/370791 ^@ NM_004937.2(CTNS):c.682-1G>A http://identifiers.org/clinvar/371076 ^@ NM_004937.2(CTNS):c.734G>A (p.Trp245Ter) http://identifiers.org/clinvar/371515 ^@ NM_004937.2(CTNS):c.1102T>C (p.Ter368Gln) http://identifiers.org/clinvar/371634 ^@ NM_000263.3(NAGLU):c.419A>G (p.Tyr140Cys) http://identifiers.org/clinvar/370575 ^@ NM_000263.3(NAGLU):c.1006G>T (p.Glu336Ter) http://identifiers.org/clinvar/370273 ^@ NM_000151.3(G6PC):c.79C>T (p.Gln27Ter) http://identifiers.org/clinvar/371379 ^@ NM_000151.3(G6PC):c.136delC (p.Leu46Serfs) http://identifiers.org/clinvar/370671 ^@ NM_000151.3(G6PC):c.150_151delGT (p.Trp50Cysfs) http://identifiers.org/clinvar/371101 ^@ NM_000151.3(G6PC):c.161A>C (p.Gln54Pro) http://identifiers.org/clinvar/370616 ^@ NM_000151.3(G6PC):c.499dupT (p.Cys167Leufs) http://identifiers.org/clinvar/371652 ^@ NM_000151.3(G6PC):c.798delC (p.Thr267Argfs) http://identifiers.org/clinvar/370907 ^@ NM_000151.3(G6PC):c.858delG (p.Lys287Asnfs) http://identifiers.org/clinvar/371388 ^@ NM_000151.3(G6PC):c.980_982delTCT (p.Phe327del) http://identifiers.org/clinvar/371228 ^@ NM_000023.3(SGCA):c.-1_9delCATGGCTGAG http://identifiers.org/clinvar/370189 ^@ NM_000023.3(SGCA):c.158-2A>G http://identifiers.org/clinvar/370642 ^@ NM_000023.3(SGCA):c.313-2A>G http://identifiers.org/clinvar/371273 ^@ NM_000023.3(SGCA):c.480_481delCT (p.Leu161Glyfs) http://identifiers.org/clinvar/370116 ^@ NM_000023.3(SGCA):c.488dupG (p.Leu164Thrfs) http://identifiers.org/clinvar/370112 ^@ NM_000023.3(SGCA):c.511C>T (p.Gln171Ter) http://identifiers.org/clinvar/370946 ^@ NM_000023.3(SGCA):c.559delC (p.Leu187Phefs) http://identifiers.org/clinvar/370656 ^@ NM_000023.3(SGCA):c.580G>T (p.Glu194Ter) http://identifiers.org/clinvar/371575 ^@ NM_000023.3(SGCA):c.754_755delAA (p.Lys252Valfs) http://identifiers.org/clinvar/370513 ^@ NM_000023.3(SGCA):c.755delA (p.Lys252Serfs) http://identifiers.org/clinvar/370737 ^@ NM_000023.3(SGCA):c.846_847delAGinsT (p.Asp283Thrfs) http://identifiers.org/clinvar/371771 ^@ NM_017777.3(MKS1):c.1394delC (p.Pro465Glnfs) http://identifiers.org/clinvar/371770 ^@ NM_017777.3(MKS1):c.367dupC (p.Arg123Profs) http://identifiers.org/clinvar/370856 ^@ NM_000018.3(ACADVL):c.138+2T>C http://identifiers.org/clinvar/371107 ^@ NM_000018.3(ACADVL):c.277+1G>T http://identifiers.org/clinvar/371068 ^@ NM_000018.3(ACADVL):c.308_309delAA (p.Lys103Argfs) http://identifiers.org/clinvar/371257 ^@ NM_000018.3(ACADVL):c.478-1G>C http://identifiers.org/clinvar/370277 ^@ NM_000018.3(ACADVL):c.497_498delTC (p.Ile166Serfs) http://identifiers.org/clinvar/370717 ^@ NM_000018.3(ACADVL):c.644_647delGTCT (p.Cys215Terfs) http://identifiers.org/clinvar/371635 ^@ NM_000018.3(ACADVL):c.799_802delGTTA (p.Val267Glnfs) http://identifiers.org/clinvar/370981 ^@ NM_000018.3(ACADVL):c.865G>A (p.Gly289Arg) http://identifiers.org/clinvar/371464 ^@ NM_000018.3(ACADVL):c.881_884dupGGCC (p.Pro296Alafs) http://identifiers.org/clinvar/371321 ^@ NM_000018.3(ACADVL):c.891delG (p.Lys298Argfs) http://identifiers.org/clinvar/371385 ^@ NM_000018.3(ACADVL):c.996delT (p.Ala333Profs) http://identifiers.org/clinvar/370886 ^@ NM_000018.3(ACADVL):c.996dupT (p.Ala333Cysfs) http://identifiers.org/clinvar/370686 ^@ NM_000018.3(ACADVL):c.1077_1077+1delGGinsCAC http://identifiers.org/clinvar/370482 ^@ NM_000018.3(ACADVL):c.1077+1G>T http://identifiers.org/clinvar/370279 ^@ NM_000018.3(ACADVL):c.1077+2T>C http://identifiers.org/clinvar/371620 ^@ NM_000018.3(ACADVL):c.1113delG (p.Ile373Phefs) http://identifiers.org/clinvar/371449 ^@ NM_000018.3(ACADVL):c.1141_1143delGAG (p.Glu381del) http://identifiers.org/clinvar/370857 ^@ NM_000018.3(ACADVL):c.1183-1G>A http://identifiers.org/clinvar/370480 ^@ NM_000018.3(ACADVL):c.1280G>A (p.Trp427Ter) http://identifiers.org/clinvar/371448 ^@ NM_000018.3(ACADVL):c.1333-2A>T http://identifiers.org/clinvar/371516 ^@ NM_000018.3(ACADVL):c.1355dupT (p.Arg453Profs) http://identifiers.org/clinvar/370770 ^@ NM_000018.3(ACADVL):c.1532+2T>C http://identifiers.org/clinvar/371586 ^@ NM_000018.3(ACADVL):c.1606-1G>A http://identifiers.org/clinvar/370091 ^@ NM_000018.3(ACADVL):c.1765delC (p.Leu589Terfs) http://identifiers.org/clinvar/371622 ^@ NM_000152.4(GAA):c.-32-3C>A http://identifiers.org/clinvar/370124 ^@ NM_000152.4(GAA):c.169C>T (p.Gln57Ter) http://identifiers.org/clinvar/371302 ^@ NM_000152.4(GAA):c.236_246delCCACACAGTGC (p.Pro79Argfs) http://identifiers.org/clinvar/370458 ^@ NM_000152.4(GAA):c.281_282delCT (p.Pro94Argfs) http://identifiers.org/clinvar/371580 ^@ NM_000152.4(GAA):c.393delC (p.Ser132Alafs) http://identifiers.org/clinvar/371501 ^@ NM_000152.4(GAA):c.471delC (p.Thr158Profs) http://identifiers.org/clinvar/370637 ^@ NM_000152.4(GAA):c.546G>T (p.Thr182=) http://identifiers.org/clinvar/370276 ^@ NM_000152.4(GAA):c.573C>A (p.Tyr191Ter) http://identifiers.org/clinvar/370577 ^@ NM_000152.4(GAA):c.875A>G (p.Tyr292Cys) http://identifiers.org/clinvar/370278 ^@ NM_000152.4(GAA):c.1076-22T>G http://identifiers.org/clinvar/370173 ^@ NM_000152.4(GAA):c.1076-2A>G http://identifiers.org/clinvar/370810 ^@ NM_000152.4(GAA):c.1099delT (p.Trp367Glyfs) http://identifiers.org/clinvar/370483 ^@ NM_000152.4(GAA):c.1115A>T (p.His372Leu) http://identifiers.org/clinvar/370263 ^@ NM_000152.4(GAA):c.1143delC (p.Ala382Leufs) http://identifiers.org/clinvar/370510 ^@ NM_000152.4(GAA):c.1192dupC (p.Leu398Profs) http://identifiers.org/clinvar/371457 ^@ NM_000152.4(GAA):c.1193delT (p.Leu398Argfs) http://identifiers.org/clinvar/370077 ^@ NM_000152.4(GAA):c.1194+2T>C http://identifiers.org/clinvar/371235 ^@ NM_000152.4(GAA):c.1222A>G (p.Met408Val) http://identifiers.org/clinvar/371305 ^@ NM_000152.4(GAA):c.1316T>A (p.Met439Lys) http://identifiers.org/clinvar/371277 ^@ NM_000152.4(GAA):c.1564C>G (p.Pro522Ala) http://identifiers.org/clinvar/371433 ^@ NM_000152.4(GAA):c.1567delT (p.Ser523Profs) http://identifiers.org/clinvar/370357 ^@ NM_000152.4(GAA):c.1687C>T (p.Gln563Ter) http://identifiers.org/clinvar/370130 ^@ NM_000152.4(GAA):c.1799G>A (p.Arg600His) http://identifiers.org/clinvar/370866 ^@ NM_000152.4(GAA):c.1824_1828dupATACG (p.Ala610Aspfs) http://identifiers.org/clinvar/371226 ^@ NM_000152.4(GAA):c.1832G>A (p.Gly611Asp) http://identifiers.org/clinvar/370146 ^@ NM_000152.4(GAA):c.1856G>A (p.Ser619Asn) http://identifiers.org/clinvar/371126 ^@ NM_000152.4(GAA):c.2015G>A (p.Arg672Gln) http://identifiers.org/clinvar/370998 ^@ NM_000152.4(GAA):c.2040+1G>T http://identifiers.org/clinvar/370552 ^@ NM_000152.4(GAA):c.2185delC (p.Leu729Trpfs) http://identifiers.org/clinvar/370222 ^@ NM_000152.4(GAA):c.2213G>A (p.Trp738Ter) http://identifiers.org/clinvar/370223 ^@ NM_000152.4(GAA):c.2214G>A (p.Trp738Ter) http://identifiers.org/clinvar/370157 ^@ NM_000152.4(GAA):c.2227C>T (p.Gln743Ter) http://identifiers.org/clinvar/370904 ^@ NM_000152.4(GAA):c.2238G>A (p.Trp746Ter) http://identifiers.org/clinvar/370268 ^@ NM_000152.4(GAA):c.2242G>T (p.Glu748Ter) http://identifiers.org/clinvar/370639 ^@ NM_000152.4(GAA):c.2242delG (p.Glu748Argfs) http://identifiers.org/clinvar/370651 ^@ NM_000152.4(GAA):c.2242dupG (p.Glu748Glyfs) http://identifiers.org/clinvar/370993 ^@ NM_000152.4(GAA):c.2281delGinsAT (p.Ala761Ilefs) http://identifiers.org/clinvar/371281 ^@ NM_000152.4(GAA):c.2331+2T>A http://identifiers.org/clinvar/370706 ^@ NM_000152.4(GAA):c.2495_2496delCA (p.Thr832Asnfs) http://identifiers.org/clinvar/370241 ^@ NM_000152.4(GAA):c.2704C>T (p.Gln902Ter) http://identifiers.org/clinvar/371481 ^@ NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs) http://identifiers.org/clinvar/370732 ^@ NM_000199.3(SGSH):c.697C>T (p.Arg233Ter) http://identifiers.org/clinvar/371037 ^@ NM_000271.4(NPC1):c.3566A>G (p.Glu1189Gly) http://identifiers.org/clinvar/370636 ^@ NM_000271.4(NPC1):c.3417_3423delTGGAGTT (p.Phe1139Leufs) http://identifiers.org/clinvar/371282 ^@ NM_000271.4(NPC1):c.3325delA (p.Ile1109Tyrfs) http://identifiers.org/clinvar/371340 ^@ NM_000271.4(NPC1):c.3309dupT (p.Val1104Cysfs) http://identifiers.org/clinvar/371419 ^@ NM_000271.4(NPC1):c.3056A>G (p.Tyr1019Cys) http://identifiers.org/clinvar/370581 ^@ NM_000271.4(NPC1):c.2775delC (p.Asn925Lysfs) http://identifiers.org/clinvar/370184 ^@ NM_000271.4(NPC1):c.2474A>G (p.Tyr825Cys) http://identifiers.org/clinvar/370601 ^@ NM_000271.4(NPC1):c.1990G>A (p.Val664Met) http://identifiers.org/clinvar/371343 ^@ NM_000271.4(NPC1):c.1761delT (p.Phe587Leufs) http://identifiers.org/clinvar/371675 ^@ NM_000271.4(NPC1):c.1711delT (p.Tyr571Ilefs) http://identifiers.org/clinvar/371192 ^@ NM_000271.4(NPC1):c.1339C>T (p.Gln447Ter) http://identifiers.org/clinvar/370848 ^@ NM_000271.4(NPC1):c.1327-1G>C http://identifiers.org/clinvar/371030 ^@ NM_000271.4(NPC1):c.1033_1034delTT (p.Phe345Leufs) http://identifiers.org/clinvar/370542 ^@ NM_000271.4(NPC1):c.956-1G>A http://identifiers.org/clinvar/371187 ^@ NM_000271.4(NPC1):c.852delT (p.Phe284Leufs) http://identifiers.org/clinvar/370135 ^@ NM_000271.4(NPC1):c.629delC (p.Ser210Terfs) http://identifiers.org/clinvar/370794 ^@ NM_000271.4(NPC1):c.500C>G (p.Ser167Ter) http://identifiers.org/clinvar/370763 ^@ NM_000271.4(NPC1):c.433C>T (p.Gln145Ter) http://identifiers.org/clinvar/371329 ^@ NM_000271.4(NPC1):c.397delG (p.Val133Leufs) http://identifiers.org/clinvar/370404 ^@ NM_000271.4(NPC1):c.395delC (p.Pro132Leufs) http://identifiers.org/clinvar/370143 ^@ NM_000271.4(NPC1):c.352_353delAG (p.Gln119Valfs) http://identifiers.org/clinvar/371098 ^@ NM_000271.4(NPC1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/370468 ^@ NM_000227.4(LAMA3):c.91C>T (p.Gln31Ter) http://identifiers.org/clinvar/370752 ^@ NM_000227.4(LAMA3):c.222delG (p.Cys75Valfs) http://identifiers.org/clinvar/371119 ^@ NM_000227.4(LAMA3):c.285+1G>T http://identifiers.org/clinvar/370423 ^@ NM_000227.4(LAMA3):c.286-2A>G http://identifiers.org/clinvar/371389 ^@ NM_000227.4(LAMA3):c.325delT (p.Cys109Alafs) http://identifiers.org/clinvar/371559 ^@ NM_000227.4(LAMA3):c.378delA (p.Cys127Valfs) http://identifiers.org/clinvar/371489 ^@ NM_000227.4(LAMA3):c.861dupT (p.Asp288Terfs) http://identifiers.org/clinvar/370555 ^@ NM_000227.4(LAMA3):c.1009+2T>C http://identifiers.org/clinvar/370688 ^@ NM_000227.4(LAMA3):c.1153_1154delGC (p.Ala385Terfs) http://identifiers.org/clinvar/370162 ^@ NM_000227.4(LAMA3):c.1491+2T>C http://identifiers.org/clinvar/370424 ^@ NM_000227.4(LAMA3):c.1678delG (p.Val560Cysfs) http://identifiers.org/clinvar/371342 ^@ NM_000227.4(LAMA3):c.1881_1884delGCTAinsCCT (p.Lys627Asnfs) http://identifiers.org/clinvar/370161 ^@ NM_000227.4(LAMA3):c.2331+1G>A http://identifiers.org/clinvar/370583 ^@ NM_000227.4(LAMA3):c.2850delA (p.Gly951Valfs) http://identifiers.org/clinvar/370076 ^@ NM_000227.4(LAMA3):c.3376C>T (p.Arg1126Ter) http://identifiers.org/clinvar/370783 ^@ NM_000227.4(LAMA3):c.3609G>A (p.Trp1203Ter) http://identifiers.org/clinvar/371359 ^@ NM_000227.4(LAMA3):c.4144dupG (p.Asp1382Glyfs) http://identifiers.org/clinvar/371440 ^@ NM_000227.4(LAMA3):c.4525-1G>C http://identifiers.org/clinvar/371649 ^@ NM_000227.4(LAMA3):c.4748delC (p.Thr1583Metfs) http://identifiers.org/clinvar/370959 ^@ NM_000528.3(MAN2B1):c.2922delA (p.Gly975Alafs) http://identifiers.org/clinvar/370914 ^@ NM_000528.3(MAN2B1):c.2802dupC (p.Val935Argfs) http://identifiers.org/clinvar/370174 ^@ NM_000528.3(MAN2B1):c.2696C>A (p.Ser899Ter) http://identifiers.org/clinvar/371052 ^@ NM_000528.3(MAN2B1):c.2664+1G>A http://identifiers.org/clinvar/371303 ^@ NM_000528.3(MAN2B1):c.2047-1G>A http://identifiers.org/clinvar/370172 ^@ NM_000528.3(MAN2B1):c.1851delT (p.Pro618Leufs) http://identifiers.org/clinvar/370399 ^@ NM_000528.3(MAN2B1):c.1774_1783delGCACCACAGC (p.Ala592Profs) http://identifiers.org/clinvar/370997 ^@ NM_000528.3(MAN2B1):c.1687G>T (p.Glu563Ter) http://identifiers.org/clinvar/371368 ^@ NM_000528.3(MAN2B1):c.1528-1G>T http://identifiers.org/clinvar/371492 ^@ NM_000528.3(MAN2B1):c.1468_1472delTTCAC (p.Phe490Leufs) http://identifiers.org/clinvar/370755 ^@ NM_000528.3(MAN2B1):c.1309+1G>T http://identifiers.org/clinvar/371610 ^@ NM_000528.3(MAN2B1):c.1280_1296del17 (p.Pro427Glnfs) http://identifiers.org/clinvar/370487 ^@ NM_000528.3(MAN2B1):c.1163G>A (p.Trp388Ter) http://identifiers.org/clinvar/371229 ^@ NM_000528.3(MAN2B1):c.763+2_763+8del7 http://identifiers.org/clinvar/370681 ^@ NM_000528.3(MAN2B1):c.446delA (p.Glu149Glyfs) http://identifiers.org/clinvar/371425 ^@ NM_000528.3(MAN2B1):c.422delA (p.Asp141Alafs) http://identifiers.org/clinvar/370219 ^@ NM_000528.3(MAN2B1):c.277C>T (p.Gln93Ter) http://identifiers.org/clinvar/370454 ^@ NM_000528.3(MAN2B1):c.159+2T>C http://identifiers.org/clinvar/371058 ^@ NM_000528.3(MAN2B1):c.93dupG (p.Leu32Alafs) http://identifiers.org/clinvar/370845 ^@ NM_000528.3(MAN2B1):c.53_54insT (p.Ala19Serfs) http://identifiers.org/clinvar/371011 ^@ NM_000159.3(GCDH):c.79delG (p.Ala27Argfs) http://identifiers.org/clinvar/370485 ^@ NM_000159.3(GCDH):c.80_81delCG (p.Ala27Glyfs) http://identifiers.org/clinvar/370338 ^@ NM_000159.3(GCDH):c.172G>T (p.Glu58Ter) http://identifiers.org/clinvar/371205 ^@ NM_000159.3(GCDH):c.198delC (p.Ile67Serfs) http://identifiers.org/clinvar/370484 ^@ NM_000159.3(GCDH):c.219delC (p.Tyr74Thrfs) http://identifiers.org/clinvar/370102 ^@ NM_000159.3(GCDH):c.226C>T (p.Gln76Ter) http://identifiers.org/clinvar/370280 ^@ NM_000159.3(GCDH):c.339T>G (p.Tyr113Ter) http://identifiers.org/clinvar/371176 ^@ NM_000159.3(GCDH):c.382C>T (p.Arg128Ter) http://identifiers.org/clinvar/370903 ^@ NM_000159.3(GCDH):c.505+1_505+8del8 http://identifiers.org/clinvar/370719 ^@ NM_000159.3(GCDH):c.514G>T (p.Glu172Ter) http://identifiers.org/clinvar/371271 ^@ NM_000159.3(GCDH):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/370963 ^@ NM_000159.3(GCDH):c.665_668delTTGT (p.Phe222Terfs) http://identifiers.org/clinvar/370244 ^@ NM_000159.3(GCDH):c.743C>T (p.Pro248Leu) http://identifiers.org/clinvar/370672 ^@ NM_000159.3(GCDH):c.848delT (p.Leu283Argfs) http://identifiers.org/clinvar/371612 ^@ NM_000159.3(GCDH):c.853-2A>G http://identifiers.org/clinvar/371609 ^@ NM_000159.3(GCDH):c.873delC (p.Asn291Lysfs) http://identifiers.org/clinvar/371251 ^@ NM_000159.3(GCDH):c.1169G>C (p.Gly390Ala) http://identifiers.org/clinvar/370106 ^@ NM_000159.3(GCDH):c.1173delG (p.Asn392Metfs) http://identifiers.org/clinvar/370623 ^@ NM_004646.3(NPHS1):c.3115dupC (p.His1039Profs) http://identifiers.org/clinvar/371659 ^@ NM_004646.3(NPHS1):c.3006_3012delTCTACAG (p.Gln1004Leufs) http://identifiers.org/clinvar/371245 ^@ NM_004646.3(NPHS1):c.2905delC (p.Leu969Cysfs) http://identifiers.org/clinvar/370574 ^@ NM_004646.3(NPHS1):c.2120G>A (p.Trp707Ter) http://identifiers.org/clinvar/371105 ^@ NM_004646.3(NPHS1):c.2023_2024delGC (p.Ala675Profs) http://identifiers.org/clinvar/371118 ^@ NM_004646.3(NPHS1):c.1971delC (p.Ala658Argfs) http://identifiers.org/clinvar/371117 ^@ NM_004646.3(NPHS1):c.1745delA (p.Lys582Argfs) http://identifiers.org/clinvar/370986 ^@ NM_004646.3(NPHS1):c.1369delG (p.Ala457Leufs) http://identifiers.org/clinvar/370800 ^@ NM_004646.3(NPHS1):c.1334G>A (p.Trp445Ter) http://identifiers.org/clinvar/371617 ^@ NM_004646.3(NPHS1):c.1013-1G>C http://identifiers.org/clinvar/370925 ^@ NM_004646.3(NPHS1):c.866G>A (p.Trp289Ter) http://identifiers.org/clinvar/370188 ^@ NM_004646.3(NPHS1):c.619delC (p.Arg207Glyfs) http://identifiers.org/clinvar/371443 ^@ NM_004646.3(NPHS1):c.595delG (p.Glu199Argfs) http://identifiers.org/clinvar/371159 ^@ NM_004646.3(NPHS1):c.397+2T>C http://identifiers.org/clinvar/371017 ^@ NM_004646.3(NPHS1):c.174delT (p.Gly59Alafs) http://identifiers.org/clinvar/370729 ^@ NM_000709.3(BCKDHA):c.137C>A (p.Ser46Ter) http://identifiers.org/clinvar/370448 ^@ NM_025136.3(OPA3):c.539A>G (p.Ter180Trp) http://identifiers.org/clinvar/370118 ^@ NM_020533.2(MCOLN1):c.31+1G>A http://identifiers.org/clinvar/370580 ^@ NM_020533.2(MCOLN1):c.54dupC (p.Asn19Glnfs) http://identifiers.org/clinvar/371671 ^@ NM_020533.2(MCOLN1):c.681-2A>G http://identifiers.org/clinvar/371144 ^@ NM_020533.2(MCOLN1):c.855_856insA (p.His286Thrfs) http://identifiers.org/clinvar/371019 ^@ NM_020533.2(MCOLN1):c.984+1G>A http://identifiers.org/clinvar/370970 ^@ NM_020533.2(MCOLN1):c.1047dupA (p.Phe350Ilefs) http://identifiers.org/clinvar/371520 ^@ NM_020533.2(MCOLN1):c.1135-2A>G http://identifiers.org/clinvar/371113 ^@ NM_020533.2(MCOLN1):c.1135-1G>A http://identifiers.org/clinvar/370398 ^@ NM_020533.2(MCOLN1):c.1135-1G>C http://identifiers.org/clinvar/370494 ^@ NM_020533.2(MCOLN1):c.1447C>T (p.Gln483Ter) http://identifiers.org/clinvar/370850 ^@ NM_000411.6(HLCS):c.1533dupT (p.Val512Cysfs) http://identifiers.org/clinvar/370852 ^@ NM_000411.6(HLCS):c.416T>A (p.Leu139Ter) http://identifiers.org/clinvar/370957 ^@ NM_000071.2(CBS):c.1468-1G>A http://identifiers.org/clinvar/370634 ^@ NM_000071.2(CBS):c.1321A>T (p.Lys441Ter) http://identifiers.org/clinvar/371147 ^@ NM_000071.2(CBS):c.1007G>A (p.Arg336His) http://identifiers.org/clinvar/371028 ^@ NM_000071.2(CBS):c.959T>C (p.Val320Ala) http://identifiers.org/clinvar/371568 ^@ NM_000071.2(CBS):c.954+1G>A http://identifiers.org/clinvar/370630 ^@ NM_000071.2(CBS):c.903C>G (p.Tyr301Ter) http://identifiers.org/clinvar/370105 ^@ NM_000071.2(CBS):c.738delG (p.Lys247Serfs) http://identifiers.org/clinvar/371644 ^@ NM_000071.2(CBS):c.707_708delCCinsGGTG (p.Thr236Argfs) http://identifiers.org/clinvar/370382 ^@ NM_000071.2(CBS):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/371190 ^@ NM_000071.2(CBS):c.467delT (p.Leu156Argfs) http://identifiers.org/clinvar/371512 ^@ NM_000071.2(CBS):c.442G>A (p.Gly148Arg) http://identifiers.org/clinvar/371200 ^@ NM_000071.2(CBS):c.402delG (p.Thr135Argfs) http://identifiers.org/clinvar/370129 ^@ NM_000071.2(CBS):c.316+1G>A http://identifiers.org/clinvar/370403 ^@ NM_000071.2(CBS):c.209+1G>C http://identifiers.org/clinvar/370517 ^@ NM_000071.2(CBS):c.18_36del19 (p.Glu9Alafs) http://identifiers.org/clinvar/371345 ^@ NM_000071.2(CBS):c.19dupC (p.Gln7Profs) http://identifiers.org/clinvar/370150 ^@ NM_000383.3(AIRE):c.157G>T (p.Glu53Ter) http://identifiers.org/clinvar/370451 ^@ NM_000383.3(AIRE):c.233G>A (p.Trp78Ter) http://identifiers.org/clinvar/370090 ^@ NM_000383.3(AIRE):c.255C>A (p.Tyr85Ter) http://identifiers.org/clinvar/371637 ^@ NM_000383.3(AIRE):c.260delT (p.Leu87Argfs) http://identifiers.org/clinvar/370206 ^@ NM_000383.3(AIRE):c.457_458delAGinsC (p.Ser153Profs) http://identifiers.org/clinvar/371397 ^@ NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) http://identifiers.org/clinvar/370839 ^@ NM_000383.3(AIRE):c.652+1G>T http://identifiers.org/clinvar/371434 ^@ NM_000383.3(AIRE):c.809_810delAG (p.Glu270Glyfs) http://identifiers.org/clinvar/371106 ^@ NM_000383.3(AIRE):c.977delC (p.Pro326Argfs) http://identifiers.org/clinvar/371416 ^@ NM_000383.3(AIRE):c.1084delG (p.Val362Trpfs) http://identifiers.org/clinvar/370337 ^@ NM_000383.3(AIRE):c.1116_1117delGG (p.Ala373Glyfs) http://identifiers.org/clinvar/370984 ^@ NM_000383.3(AIRE):c.1278+1delG http://identifiers.org/clinvar/371185 ^@ NM_000383.3(AIRE):c.1480_1483delCGCC (p.Arg494Trpfs) http://identifiers.org/clinvar/371075 ^@ NM_000383.3(AIRE):c.1566+2T>A http://identifiers.org/clinvar/370846 ^@ NM_000383.3(AIRE):c.1566+2dupT http://identifiers.org/clinvar/370408 ^@ NM_015166.3(MLC1):c.973C>T (p.Gln325Ter) http://identifiers.org/clinvar/371564 ^@ NM_015166.3(MLC1):c.895-1G>C http://identifiers.org/clinvar/371571 ^@ NM_015166.3(MLC1):c.624_625delTG (p.Ala209Argfs) http://identifiers.org/clinvar/371509 ^@ NM_015166.3(MLC1):c.525+1G>A http://identifiers.org/clinvar/371207 ^@ NM_015166.3(MLC1):c.449_455delTCCTGCT (p.Leu150Argfs) http://identifiers.org/clinvar/370234 ^@ NM_015166.3(MLC1):c.271_272delAT (p.Ile91Profs) http://identifiers.org/clinvar/370785 ^@ NM_015166.3(MLC1):c.136delT (p.Cys46Alafs) http://identifiers.org/clinvar/370169 ^@ NM_015166.3(MLC1):c.83dupA (p.Tyr28Terfs) http://identifiers.org/clinvar/371381 ^@ NM_015166.3(MLC1):c.67C>T (p.Gln23Ter) http://identifiers.org/clinvar/371650 ^@ NM_000487.5(ARSA):c.1492dupC (p.Arg498Profs) http://identifiers.org/clinvar/371393 ^@ NM_000487.5(ARSA):c.1388delT (p.Leu463Argfs) http://identifiers.org/clinvar/370834 ^@ NM_000487.5(ARSA):c.1210+1G>T http://identifiers.org/clinvar/371139 ^@ NM_000487.5(ARSA):c.1107+1delG http://identifiers.org/clinvar/370945 ^@ NM_000487.5(ARSA):c.979_979+3delGGTC http://identifiers.org/clinvar/370626 ^@ NM_000487.5(ARSA):c.929delG (p.Gly310Alafs) http://identifiers.org/clinvar/371186 ^@ NM_000487.5(ARSA):c.891delC (p.Gly298Valfs) http://identifiers.org/clinvar/370284 ^@ NM_000487.5(ARSA):c.674_675dupAT (p.Ala226Metfs) http://identifiers.org/clinvar/370973 ^@ NM_000487.5(ARSA):c.545delC (p.Pro182Hisfs) http://identifiers.org/clinvar/371662 ^@ NM_000487.5(ARSA):c.526C>T (p.Gln176Ter) http://identifiers.org/clinvar/371638 ^@ NM_000487.5(ARSA):c.495_501delGCCGGCC (p.Pro166Leufs) http://identifiers.org/clinvar/371532 ^@ NM_000487.5(ARSA):c.494dupC (p.Pro166Alafs) http://identifiers.org/clinvar/371149 ^@ NM_000487.5(ARSA):c.466-2A>G http://identifiers.org/clinvar/370738 ^@ NM_000487.5(ARSA):c.421C>T (p.Gln141Ter) http://identifiers.org/clinvar/370472 ^@ NM_000487.5(ARSA):c.418delC (p.His140Ilefs) http://identifiers.org/clinvar/370305 ^@ NM_000487.5(ARSA):c.418dupC (p.His140Profs) http://identifiers.org/clinvar/370568 ^@ NM_000487.5(ARSA):c.227_228insTA (p.Ala77Thrfs) http://identifiers.org/clinvar/370171 ^@ NM_000487.5(ARSA):c.211_212delTG (p.Cys71Hisfs) http://identifiers.org/clinvar/370360 ^@ NM_000169.2(GLA):c.244A>T (p.Lys82Ter) http://identifiers.org/clinvar/371642 ^@ NM_000330.3(RS1):c.673T>C (p.Ter225Arg) http://identifiers.org/clinvar/370754 ^@ NM_000330.3(RS1):c.498C>A (p.Tyr166Ter) http://identifiers.org/clinvar/370141 ^@ NM_000390.3(CHM):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/371802 ^@ NM_003001.3(SDHC):c.11T>C (p.Leu4Pro) http://identifiers.org/clinvar/371923 ^@ NM_003001.3(SDHC):c.20+22G>C http://identifiers.org/clinvar/371843 ^@ NM_003001.3(SDHC):c.197C>T (p.Ala66Val) http://identifiers.org/clinvar/371792 ^@ NM_003000.2(SDHB):c.749C>T (p.Thr250Ile) http://identifiers.org/clinvar/371795 ^@ NM_003000.2(SDHB):c.709C>T (p.Pro237Ser) http://identifiers.org/clinvar/371883 ^@ NM_003000.2(SDHB):c.642+17T>C http://identifiers.org/clinvar/371801 ^@ NM_003000.2(SDHB):c.112C>T (p.Arg38Cys) http://identifiers.org/clinvar/371882 ^@ NM_000465.3(BARD1):c.1315-21C>A http://identifiers.org/clinvar/372040 ^@ NM_000465.3(BARD1):c.364+16A>G http://identifiers.org/clinvar/371950 ^@ NM_000465.3(BARD1):c.233G>A (p.Cys78Tyr) http://identifiers.org/clinvar/371920 ^@ NM_000465.3(BARD1):c.215+20T>C http://identifiers.org/clinvar/371931 ^@ NM_000465.3(BARD1):c.176_177delAG (p.Glu59Alafs) http://identifiers.org/clinvar/371804 ^@ NM_000251.2(MSH2):c.108T>C (p.Leu36=) http://identifiers.org/clinvar/371862 ^@ NM_000251.2(MSH2):c.366+24A>G http://identifiers.org/clinvar/372070 ^@ NM_000251.2(MSH2):c.366+25C>T http://identifiers.org/clinvar/371972 ^@ NM_000251.2(MSH2):c.376G>C (p.Gly126Arg) http://identifiers.org/clinvar/371908 ^@ NM_000251.2(MSH2):c.806C>A (p.Ser269Ter) http://identifiers.org/clinvar/372055 ^@ NM_000251.2(MSH2):c.1276+16G>A http://identifiers.org/clinvar/372031 ^@ NM_000251.2(MSH2):c.1510+11G>C http://identifiers.org/clinvar/371856 ^@ NM_000251.2(MSH2):c.1662-23A>G http://identifiers.org/clinvar/371876 ^@ NM_000251.2(MSH2):c.1759+16C>G http://identifiers.org/clinvar/371970 ^@ NM_000251.2(MSH2):c.1760-16T>G http://identifiers.org/clinvar/372015 ^@ NM_000251.2(MSH2):c.2458+16G>A http://identifiers.org/clinvar/371918 ^@ NM_000179.2(MSH6):c.-6G>C http://identifiers.org/clinvar/372072 ^@ NM_000179.2(MSH6):c.457+19_457+20delAT http://identifiers.org/clinvar/371820 ^@ NM_000179.2(MSH6):c.908dupT (p.Met303Ilefs) http://identifiers.org/clinvar/371790 ^@ NM_000179.2(MSH6):c.941G>A (p.Ser314Asn) http://identifiers.org/clinvar/371852 ^@ NM_000179.2(MSH6):c.2187C>T (p.Ala729=) http://identifiers.org/clinvar/372051 ^@ NM_000179.2(MSH6):c.3173-12C>T http://identifiers.org/clinvar/371822 ^@ NM_000179.2(MSH6):c.3215_3222delGTCCTATG (p.Gly1072Valfs) http://identifiers.org/clinvar/371940 ^@ NM_000179.2(MSH6):c.3556+36_3556+39delGTCA http://identifiers.org/clinvar/372076 ^@ NM_000179.2(MSH6):c.3647-11dupT http://identifiers.org/clinvar/371875 ^@ NM_000179.2(MSH6):c.3647-6T>C http://identifiers.org/clinvar/371844 ^@ NM_000179.2(MSH6):c.3801+21T>C http://identifiers.org/clinvar/371945 ^@ NM_000551.3(VHL):c.83_100dup18 (p.Ser33_Gly34insAspGlyGlyGluGluSer) http://identifiers.org/clinvar/371800 ^@ NM_000551.3(VHL):c.167C>G (p.Ala56Gly) http://identifiers.org/clinvar/371898 ^@ NM_000551.3(VHL):c.341-6C>T http://identifiers.org/clinvar/371833 ^@ NM_000551.3(VHL):c.439A>G (p.Ile147Val) http://identifiers.org/clinvar/371992 ^@ NM_000551.3(VHL):c.449A>G (p.Asn150Ser) http://identifiers.org/clinvar/371897 ^@ NM_000551.3(VHL):c.*7C>G http://identifiers.org/clinvar/371983 ^@ NM_000249.3(MLH1):c.117-39G>A http://identifiers.org/clinvar/372029 ^@ NM_000249.3(MLH1):c.207+26delA http://identifiers.org/clinvar/371808 ^@ NM_000249.3(MLH1):c.209_221delAAGAAGATCTGGA (p.Lys70Ilefs) http://identifiers.org/clinvar/371909 ^@ NM_000249.3(MLH1):c.454-1G>C http://identifiers.org/clinvar/372032 ^@ NM_000249.3(MLH1):c.546-18T>C http://identifiers.org/clinvar/371941 ^@ NM_000249.3(MLH1):c.589-25G>A http://identifiers.org/clinvar/371986 ^@ NM_000249.3(MLH1):c.589-24T>C http://identifiers.org/clinvar/371889 ^@ NM_000249.3(MLH1):c.791-14T>C http://identifiers.org/clinvar/371796 ^@ NM_000249.3(MLH1):c.1210C>T (p.Leu404=) http://identifiers.org/clinvar/371799 ^@ NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) http://identifiers.org/clinvar/371853 ^@ NM_000249.3(MLH1):c.1378G>T (p.Glu460Ter) http://identifiers.org/clinvar/372016 ^@ NM_000249.3(MLH1):c.1409+1_1409+6del6 http://identifiers.org/clinvar/371967 ^@ NM_000249.3(MLH1):c.1731+8T>C http://identifiers.org/clinvar/372043 ^@ NM_000249.3(MLH1):c.2104-22T>C http://identifiers.org/clinvar/371825 ^@ NM_000038.5(APC):c.-30238T>C http://identifiers.org/clinvar/371850 ^@ NM_000038.5(APC):c.-30224G>A http://identifiers.org/clinvar/372042 ^@ NM_000038.5(APC):c.-30179T>C http://identifiers.org/clinvar/371851 ^@ NM_000038.5(APC):c.-30156C>T http://identifiers.org/clinvar/371984 ^@ NM_001127511.2(APC):c.83G>A (p.Gly28Asp) http://identifiers.org/clinvar/371917 ^@ NM_000038.5(APC):c.-30105C>T http://identifiers.org/clinvar/371913 ^@ NM_000038.5(APC):c.-30103G>A http://identifiers.org/clinvar/371861 ^@ NM_000038.5(APC):c.-30102G>A http://identifiers.org/clinvar/371859 ^@ NM_000038.5(APC):c.-30097G>A http://identifiers.org/clinvar/371827 ^@ NM_000038.5(APC):c.-30045G>T http://identifiers.org/clinvar/372060 ^@ NM_000038.5(APC):c.221-16T>C http://identifiers.org/clinvar/371803 ^@ NM_000038.5(APC):c.280C>A (p.Arg94Ser) http://identifiers.org/clinvar/371943 ^@ NM_000038.5(APC):c.422+19G>C http://identifiers.org/clinvar/372037 ^@ NM_000038.5(APC):c.423-28G>T http://identifiers.org/clinvar/371887 ^@ NM_000038.5(APC):c.532-939G>A http://identifiers.org/clinvar/372028 ^@ NM_000038.5(APC):c.532-939G>T http://identifiers.org/clinvar/371961 ^@ NM_000038.5(APC):c.532-17A>T http://identifiers.org/clinvar/372063 ^@ NM_000038.5(APC):c.646-20G>A http://identifiers.org/clinvar/372069 ^@ NM_000038.5(APC):c.835-20A>G http://identifiers.org/clinvar/372035 ^@ NM_000038.5(APC):c.876G>C (p.Leu292Phe) http://identifiers.org/clinvar/371831 ^@ NM_000038.5(APC):c.933+2T>C http://identifiers.org/clinvar/371969 ^@ NM_000038.5(APC):c.933+16A>G http://identifiers.org/clinvar/372038 ^@ NM_000038.5(APC):c.934-14C>T http://identifiers.org/clinvar/372030 ^@ NM_000038.5(APC):c.1312+16T>A http://identifiers.org/clinvar/371848 ^@ NM_000038.5(APC):c.1409-17T>G http://identifiers.org/clinvar/371836 ^@ NM_000038.5(APC):c.1548+2T>C http://identifiers.org/clinvar/242754 ^@ NM_000553.4(WRN):c.403A>G (p.Lys135Glu) http://identifiers.org/clinvar/242753 ^@ NM_001022.3(RPS19):c.164C>T (p.Thr55Met) http://identifiers.org/clinvar/242752 ^@ NM_000358.2(TGFBI):c.1652C>A (p.Pro551Gln) http://identifiers.org/clinvar/242751 ^@ NM_000436.3(OXCT1):c.398T>A (p.Val133Glu) http://identifiers.org/clinvar/98569 ^@ NM_000180.3(GUCY2D):c.2516C>T (p.Thr839Met) http://identifiers.org/clinvar/242750 ^@ NM_000402.4(G6PD):c.634C>T (p.Arg212Trp) http://identifiers.org/clinvar/242749 ^@ NM_000202.7(IDS):c.1464G>T (p.Met488Ile) http://identifiers.org/clinvar/12009 ^@ NM_000151.3(G6PC):c.1022T>A (p.Ile341Asn) http://identifiers.org/clinvar/37077 ^@ NM_002529.3(NTRK1):c.1810C>T (p.His604Tyr) http://identifiers.org/clinvar/216718 ^@ NM_020975.4(RET):c.1897C>G (p.Leu633Val) http://identifiers.org/clinvar/242748 ^@ NM_000530.7(MPZ):c.346A>C (p.Asn116His) http://identifiers.org/clinvar/242747 ^@ NM_000530.7(MPZ):c.382G>A (p.Asp128Asn) http://identifiers.org/clinvar/242746 ^@ NM_000530.7(MPZ):c.486C>G (p.Ile162Met) http://identifiers.org/clinvar/242745 ^@ NM_000530.7(MPZ):c.274G>A (p.Val92Met) http://identifiers.org/clinvar/242744 ^@ NM_000518.4(HBB):c.433A>T (p.Lys145Ter) http://identifiers.org/clinvar/189195 ^@ NM_001012763.1(GNRHR):c.30_31delTCinsAA (p.Asn10_Gln11delinsLysLys) http://identifiers.org/clinvar/242743 ^@ NM_020485.4(RHCE):c.307C= (p.Pro103=) http://identifiers.org/clinvar/242742 ^@ NM_020485.4(RHCE):c.178C= (p.Leu60=) http://identifiers.org/clinvar/242741 ^@ NM_020485.4(RHCE):c.203A= (p.Asn68=) http://identifiers.org/clinvar/242740 ^@ NM_020469.2(ABO):c.803G>C (p.Gly268Ala) http://identifiers.org/clinvar/242739 ^@ NM_000018.3(ACADVL):c.739A>C (p.Lys247Gln) http://identifiers.org/clinvar/217764 ^@ NM_000787.3(DBH):c.1033G>A (p.Asp345Asn) http://identifiers.org/clinvar/242738 ^@ NM_000022.3(ADA):c.316C>G (p.Leu106Val) http://identifiers.org/clinvar/205384 ^@ NM_018100.3(EFHC1):c.662G>A (p.Arg221His) http://identifiers.org/clinvar/38455 ^@ NM_207346.2(TSEN54):c.277T>C (p.Ser93Pro) http://identifiers.org/clinvar/242737 ^@ NM_000433.3(NCF2):c.481A>G (p.Lys161Glu) http://identifiers.org/clinvar/242736 ^@ NM_015046.5(SETX):c.1957C>A (p.Gln653Lys) http://identifiers.org/clinvar/242735 ^@ NM_015046.5(SETX):c.3880C>T (p.Arg1294Cys) http://identifiers.org/clinvar/242734 ^@ NM_130468.3(CHST14):c.410T>A (p.Leu137Gln) http://identifiers.org/clinvar/96008 ^@ NM_021098.2(CACNA1H):c.2362C>T (p.Arg788Cys) http://identifiers.org/clinvar/242733 ^@ NM_000218.2(KCNQ1):c.1249G>A (p.Val417Met) http://identifiers.org/clinvar/242732 ^@ NM_000229.1(LCAT):c.544C>T (p.Arg182Cys) http://identifiers.org/clinvar/50883 ^@ NM_000053.3(ATP7B):c.3526G>A (p.Gly1176Arg) http://identifiers.org/clinvar/242731 ^@ NM_000520.5(HEXA):c.598G>A (p.Val200Met) http://identifiers.org/clinvar/199044 ^@ NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) http://identifiers.org/clinvar/242730 ^@ NM_014762.3(DHCR24):c.918G>C (p.Lys306Asn) http://identifiers.org/clinvar/177738 ^@ NM_000441.1(SLC26A4):c.1468A>C (p.Ile490Leu) http://identifiers.org/clinvar/167303 ^@ NM_170784.2(MKKS):c.724G>T (p.Ala242Ser) http://identifiers.org/clinvar/40166 ^@ NM_000030.2(AGXT):c.508G>A (p.Gly170Arg) http://identifiers.org/clinvar/68803 ^@ NM_139025.4(ADAMTS13):c.1523G>A (p.Cys508Tyr) http://identifiers.org/clinvar/242729 ^@ NM_004646.3(NPHS1):c.2456A>T (p.Asp819Val) http://identifiers.org/clinvar/242728 ^@ NM_005422.2(TECTA):c.5471G>A (p.Gly1824Asp) http://identifiers.org/clinvar/242727 ^@ NM_000452.2(SLC10A2):c.785C>T (p.Thr262Met) http://identifiers.org/clinvar/242726 ^@ NM_000339.2(SLC12A3):c.2612G>A (p.Arg871His) http://identifiers.org/clinvar/98568 ^@ NM_000180.3(GUCY2D):c.2512C>A (p.Arg838Ser) http://identifiers.org/clinvar/67932 ^@ NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) http://identifiers.org/clinvar/48289 ^@ NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) http://identifiers.org/clinvar/67836 ^@ NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) http://identifiers.org/clinvar/242725 ^@ NM_000495.4(COL4A5):c.4264C>T (p.Arg1422Cys) http://identifiers.org/clinvar/92550 ^@ NM_000169.2(GLA):c.334C>T (p.Arg112Cys) http://identifiers.org/clinvar/242724 ^@ NM_000444.5(PHEX):c.759G>A (p.Met253Ile) http://identifiers.org/clinvar/242723 ^@ NM_000074.2(CD40LG):c.386A>G (p.Glu129Gly) http://identifiers.org/clinvar/242722 ^@ NM_000373.3(UMPS):c.1285G>C (p.Gly429Arg) http://identifiers.org/clinvar/242721 ^@ NM_000203.4(IDUA):c.1962A>T (p.Ter654Cys) http://identifiers.org/clinvar/38367 ^@ NM_002863.4(PYGL):c.1016A>G (p.Asn339Ser) http://identifiers.org/clinvar/242720 ^@ NM_004959.4(NR5A1):c.386C>T (p.Pro129Leu) http://identifiers.org/clinvar/133223 ^@ NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) http://identifiers.org/clinvar/242719 ^@ NM_000324.2(RHAG):c.838G>A (p.Gly280Arg) http://identifiers.org/clinvar/242718 ^@ NM_000293.2(PHKB):c.2926G>T (p.Glu976Ter) http://identifiers.org/clinvar/242717 ^@ NM_016269.4(LEF1):c.181T>C (p.Ser61Pro) http://identifiers.org/clinvar/242716 ^@ NM_000894.2(LHB):c.104T>C (p.Ile35Thr) http://identifiers.org/clinvar/242715 ^@ NM_002292.3(LAMB2):c.4177C>T (p.Leu1393Phe) http://identifiers.org/clinvar/242714 ^@ NM_000200.2(HTN3):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/242713 ^@ NM_000559.2(HBG1):c.410C>G (p.Ala137Gly) http://identifiers.org/clinvar/242712 ^@ NM_000518.4(HBB):c.359G>A (p.Gly120Asp) http://identifiers.org/clinvar/242711 ^@ NM_000518.4(HBB):c.70G>A (p.Val24Ile) http://identifiers.org/clinvar/242710 ^@ NM_000518.4(HBB):c.428C>T (p.Ala143Val) http://identifiers.org/clinvar/242709 ^@ NM_000558.3(HBA1):c.239C>G (p.Ala80Gly) http://identifiers.org/clinvar/242708 ^@ NM_023110.2(FGFR1):c.2172C>G (p.Asn724Lys) http://identifiers.org/clinvar/38394 ^@ NM_006894.5(FMO3):c.472G>A (p.Glu158Lys) http://identifiers.org/clinvar/242707 ^@ NM_000142.4(FGFR3):c.1130T>G (p.Leu377Arg) http://identifiers.org/clinvar/242706 ^@ NM_000142.4(FGFR3):c.1454A>G (p.Gln485Arg) http://identifiers.org/clinvar/242705 ^@ NM_001928.3(CFD):c.640T>C (p.Cys214Arg) http://identifiers.org/clinvar/242704 ^@ NM_001972.3(ELANE):c.301G>T (p.Val101Leu) http://identifiers.org/clinvar/38874 ^@ NM_000399.4(EGR2):c.1147G>T (p.Asp383Tyr) http://identifiers.org/clinvar/242703 ^@ NM_003286.3(TOP1):c.1748G= (p.Gly583=) http://identifiers.org/clinvar/242702 ^@ NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) http://identifiers.org/clinvar/242701 ^@ NM_000106.5(CYP2D6):c.1457G>C (p.Ser486Thr) http://identifiers.org/clinvar/242700 ^@ NM_000149.3(FUT3):c.508G>A (p.Gly170Ser) http://identifiers.org/clinvar/242699 ^@ NM_000041.3(APOE):c.787G>A (p.Glu263Lys) http://identifiers.org/clinvar/242698 ^@ NM_000041.3(APOE):c.478C>T (p.Arg160Cys) http://identifiers.org/clinvar/242697 ^@ NM_000041.2(APOE):c.725G>A (p.Arg242Gln) http://identifiers.org/clinvar/242696 ^@ NM_000041.3(APOE):c.761T>A (p.Val254Glu) http://identifiers.org/clinvar/242695 ^@ NM_000041.3(APOE):c.805C>G (p.Arg269Gly) http://identifiers.org/clinvar/242694 ^@ NM_000041.3(APOE):c.508G>C (p.Ala170Pro) http://identifiers.org/clinvar/242693 ^@ NM_001100.3(ACTA1):c.223C>T (p.His75Tyr) http://identifiers.org/clinvar/29581 ^@ CHRNA1, IVS3AS, G-A, -8 http://identifiers.org/clinvar/29582 ^@ CHRNA1, ARG313TRP http://identifiers.org/clinvar/29583 ^@ CHRNG, 1-BP DUP, 459A http://identifiers.org/clinvar/29584 ^@ NM_001098.2(ACO2):c.336C>G (p.Ser112Arg) http://identifiers.org/clinvar/29585 ^@ NM_001614.3(ACTG1):c.464C>T (p.Ser155Phe) http://identifiers.org/clinvar/29586 ^@ NM_001614.3(ACTG1):c.359C>T (p.Thr120Ile) http://identifiers.org/clinvar/29587 ^@ NM_001614.3(ACTG1):c.404C>T (p.Ala135Val) http://identifiers.org/clinvar/29588 ^@ NM_001614.3(ACTG1):c.608C>A (p.Thr203Lys) http://identifiers.org/clinvar/29589 ^@ NM_001614.3(ACTG1):c.760C>T (p.Arg254Trp) http://identifiers.org/clinvar/29590 ^@ NM_001614.3(ACTG1):c.766C>T (p.Arg256Trp) http://identifiers.org/clinvar/29591 ^@ NM_001458.4(FLNC):c.752T>C (p.Met251Thr) http://identifiers.org/clinvar/29592 ^@ NM_001458.4(FLNC):c.577G>A (p.Ala193Thr) http://identifiers.org/clinvar/29593 ^@ NM_001105.4(ACVR1):c.982G>A (p.Gly328Arg) http://identifiers.org/clinvar/29594 ^@ NM_001105.4(ACVR1):c.982G>T (p.Gly328Trp) http://identifiers.org/clinvar/29595 ^@ NM_001105.4(ACVR1):c.983G>A (p.Gly328Glu) http://identifiers.org/clinvar/29596 ^@ NM_001105.4(ACVR1):c.1124G>C (p.Arg375Pro) http://identifiers.org/clinvar/29597 ^@ NM_001105.4(ACVR1):c.605G>T (p.Arg202Ile) http://identifiers.org/clinvar/29598 ^@ NM_001613.2(ACTA2):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/29599 ^@ NM_001101.3(ACTB):c.587G>A (p.Arg196His) http://identifiers.org/clinvar/29600 ^@ NM_001101.3(ACTB):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/29601 ^@ NM_001101.3(ACTB):c.193C>G (p.Leu65Val) http://identifiers.org/clinvar/29602 ^@ NM_001101.3(ACTB):c.34A>G (p.Asn12Asp) http://identifiers.org/clinvar/29603 ^@ NM_006721.3(ADK):c.953C>A (p.Ala318Glu) http://identifiers.org/clinvar/29604 ^@ NM_006721.3(ADK):c.704A>C (p.Asp235Ala) http://identifiers.org/clinvar/29605 ^@ NM_006721.3(ADK):c.89G>A (p.Gly30Glu) http://identifiers.org/clinvar/29606 ^@ PSEN1, 1-BP DEL, 725C http://identifiers.org/clinvar/29607 ^@ NM_000416.2(IFNGR1):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/29608 ^@ NM_000384.2(APOB):c.905-1_905dupGG http://identifiers.org/clinvar/29609 ^@ DDC, IVS6DS, A-T, +4 http://identifiers.org/clinvar/29610 ^@ NM_001681.3(ATP2A2):c.2093C>T (p.Ala698Val) http://identifiers.org/clinvar/29611 ^@ CD40, 3-BP DEL, 175TAA http://identifiers.org/clinvar/29612 ^@ NM_001253823.1(BLVRA):c.52C>T (p.Arg18Ter) http://identifiers.org/clinvar/29613 ^@ NM_001253823.1(BLVRA):c.131C>A (p.Ser44Ter) http://identifiers.org/clinvar/29614 ^@ BMP2, 2.1-KB DUP, +110 KB http://identifiers.org/clinvar/29615 ^@ BMP4, DEL http://identifiers.org/clinvar/29616 ^@ NM_001202.5(BMP4):c.592C>T (p.Arg198Ter) http://identifiers.org/clinvar/29617 ^@ BMP4, 1-BP DUP, 171C http://identifiers.org/clinvar/29618 ^@ NM_001202.5(BMP4):c.362A>G (p.His121Arg) http://identifiers.org/clinvar/29620 ^@ NM_004056.5(CA8):c.710G>A (p.Arg237Gln) http://identifiers.org/clinvar/29621 ^@ CAT, 1-BP DEL, 358T http://identifiers.org/clinvar/29622 ^@ CAT, 2-BP INS, 138GA http://identifiers.org/clinvar/29623 ^@ NM_001822.5(CHN1):c.422C>T (p.Pro141Leu) http://identifiers.org/clinvar/29624 ^@ NM_001822.5(CHN1):c.754C>T (p.Pro252Ser) http://identifiers.org/clinvar/29625 ^@ NM_000781.2(CYP11A1):c.665T>C (p.Leu222Pro) http://identifiers.org/clinvar/29626 ^@ NM_000740.3(CHRM3):c.1173_1184delGCCTGAGGAGGAinsT (p.Pro392Alafs) http://identifiers.org/clinvar/29627 ^@ NM_001846.3(COL4A2):c.3455G>A (p.Gly1152Asp) http://identifiers.org/clinvar/29628 ^@ NM_001846.3(COL4A2):c.3110G>A (p.Gly1037Glu) http://identifiers.org/clinvar/29629 ^@ NM_001846.3(COL4A2):c.3368A>G (p.Glu1123Gly) http://identifiers.org/clinvar/29630 ^@ NM_001846.3(COL4A2):c.3448C>A (p.Gln1150Lys) http://identifiers.org/clinvar/29631 ^@ NM_001846.3(COL4A2):c.5068G>A (p.Ala1690Thr) http://identifiers.org/clinvar/29632 ^@ COL10A1, TYR663TER http://identifiers.org/clinvar/29633 ^@ COL7A1, GLY2316ARG http://identifiers.org/clinvar/29634 ^@ NM_000094.3(COL7A1):c.8479C>T (p.Gln2827Ter) http://identifiers.org/clinvar/29635 ^@ NM_000094.3(COL7A1):c.4565G>A (p.Gly1522Glu) http://identifiers.org/clinvar/29636 ^@ NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) http://identifiers.org/clinvar/29637 ^@ NM_001844.4(COL2A1):c.4148C>T (p.Thr1383Met) http://identifiers.org/clinvar/29638 ^@ NM_000090.3(COL3A1):c.479dupT (p.Lys161Glnfs) http://identifiers.org/clinvar/29639 ^@ NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) http://identifiers.org/clinvar/29640 ^@ NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) http://identifiers.org/clinvar/29641 ^@ NM_001849.3(COL6A2):c.2626C>A (p.Arg876Ser) http://identifiers.org/clinvar/210747 ^@ NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) http://identifiers.org/clinvar/242692 ^@ NM_001849.3(COL6A2):c.2527C>T (p.Arg843Trp) http://identifiers.org/clinvar/29643 ^@ NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter) http://identifiers.org/clinvar/29644 ^@ NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) http://identifiers.org/clinvar/29645 ^@ NM_001852.3(COL9A2):c.843_846+4del8 (p.Asp281GlnfsTer70) http://identifiers.org/clinvar/29646 ^@ NM_001854.3(COL11A1):c.1786dupG (p.Ala596Glyfs) http://identifiers.org/clinvar/29647 ^@ NM_080629.2(COL11A1):c.3277G>C (p.Gly1093Arg) http://identifiers.org/clinvar/29648 ^@ NM_080629.2(COL11A1):c.2386G>C (p.Gly796Arg) http://identifiers.org/clinvar/29649 ^@ COL11A1, GLY1315TER http://identifiers.org/clinvar/29650 ^@ COL11A2, IVS18, 1-BP INS, +3 http://identifiers.org/clinvar/29651 ^@ COL11A2, 9-BP DEL, NT2899 http://identifiers.org/clinvar/29652 ^@ COL18A1, 2-BP DEL, 3617CT http://identifiers.org/clinvar/29653 ^@ COL18A1, 2-BP DEL http://identifiers.org/clinvar/29654 ^@ NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) http://identifiers.org/clinvar/29655 ^@ MLH1, 11.6-KB DEL http://identifiers.org/clinvar/29657 ^@ NM_000249.3(MLH1):c.1865T>A (p.Leu622His) http://identifiers.org/clinvar/29658 ^@ DCC, 2-BP DEL, 3835CT http://identifiers.org/clinvar/29659 ^@ C9, CYS507TYR http://identifiers.org/clinvar/29660 ^@ C8A, IVS2, G-T, +1 http://identifiers.org/clinvar/29661 ^@ C8A, ARG394TER http://identifiers.org/clinvar/29662 ^@ NM_004004.5(GJB2):c.551G>A (p.Arg184Gln) http://identifiers.org/clinvar/29663 ^@ NM_005266.6(GJA5):c.145C>T (p.Gln49Ter) http://identifiers.org/clinvar/29664 ^@ NM_005266.6(GJA5):c.253G>A (p.Val85Ile) http://identifiers.org/clinvar/29665 ^@ NM_005266.6(GJA5):c.661C>A (p.Leu221Ile) http://identifiers.org/clinvar/29666 ^@ NM_005266.6(GJA5):c.685C>A (p.Leu229Met) http://identifiers.org/clinvar/29667 ^@ GJA1, 12-BP DEL, NT120 http://identifiers.org/clinvar/29668 ^@ NM_000165.4(GJA1):c.31C>T (p.Leu11Phe) http://identifiers.org/clinvar/29669 ^@ NM_001885.2(CRYAB):c.60delC (p.Ser21Alafs) http://identifiers.org/clinvar/29670 ^@ NM_134442.4(CREB1):c.347A>G (p.Asp116Gly) http://identifiers.org/clinvar/29671 ^@ NM_000767.4(CYP2B6):c.516G>T (p.Gln172His) http://identifiers.org/clinvar/29672 ^@ NM_004415.3(DSP):c.7097G>A (p.Arg2366His) http://identifiers.org/clinvar/29673 ^@ NM_000791.3(DHFR):c.238C>T (p.Leu80Phe) http://identifiers.org/clinvar/29674 ^@ NM_000791.3(DHFR):c.458A>T (p.Asp153Val) http://identifiers.org/clinvar/29675 ^@ NM_000782.4(CYP24A1):c.1426_1427delCT (p.Cys477Leufs) http://identifiers.org/clinvar/29676 ^@ NM_000782.4(CYP24A1):c.476G>A (p.Arg159Gln) http://identifiers.org/clinvar/29677 ^@ NM_000782.4(CYP24A1):c.428_430delAAG (p.Glu143del) http://identifiers.org/clinvar/29678 ^@ NM_000782.4(CYP24A1):c.451G>T (p.Glu151Ter) http://identifiers.org/clinvar/29679 ^@ NM_000782.4(CYP24A1):c.1186C>T (p.Arg396Trp) http://identifiers.org/clinvar/29680 ^@ NM_000782.4(CYP24A1):c.1226T>C (p.Leu409Ser) http://identifiers.org/clinvar/29681 ^@ NM_000782.4(CYP24A1):c.964G>A (p.Glu322Lys) http://identifiers.org/clinvar/29682 ^@ NM_001130823.2(DNMT1):c.1532A>G (p.Tyr511Cys) http://identifiers.org/clinvar/29683 ^@ NM_001130823.2(DNMT1):c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr) http://identifiers.org/clinvar/29685 ^@ NM_001044.4(SLC6A3):c.1269+1G>A http://identifiers.org/clinvar/29687 ^@ NM_002526.3(NT5E):c.662C>A (p.Ser221Ter) http://identifiers.org/clinvar/29688 ^@ NM_002526.3(NT5E):c.1073G>A (p.Cys358Tyr) http://identifiers.org/clinvar/29689 ^@ NT5E, 1-BP DUP, 1609A http://identifiers.org/clinvar/29690 ^@ ELN, IVS28, G-C, +5 http://identifiers.org/clinvar/29691 ^@ ANXA5, M2 HAPLOTYPE http://identifiers.org/clinvar/29692 ^@ GATA3, 2-BP DEL, 108GG http://identifiers.org/clinvar/29693 ^@ NM_001002295.1(GATA3):c.1025G>A (p.Cys342Tyr) http://identifiers.org/clinvar/29694 ^@ F13A1, 4-BP DEL, 602AAAG http://identifiers.org/clinvar/29695 ^@ NM_000129.3(F13A1):c.-19+12A= http://identifiers.org/clinvar/29696 ^@ NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys) http://identifiers.org/clinvar/29697 ^@ NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) http://identifiers.org/clinvar/29698 ^@ NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr) http://identifiers.org/clinvar/29699 ^@ NM_000138.4(FBN1):c.5087A>G (p.Tyr1696Cys) http://identifiers.org/clinvar/29700 ^@ FBN1, SER1750ARG http://identifiers.org/clinvar/29701 ^@ NM_000138.4(FBN1):c.5099A>G (p.Tyr1700Cys) http://identifiers.org/clinvar/29702 ^@ NM_000138.4(FBN1):c.5202_5204dupACA (p.Gln1735_Cys1736insGln) http://identifiers.org/clinvar/29703 ^@ NM_000142.4(FGFR3):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/29704 ^@ NM_000145.3(FSHR):c.1760C>A (p.Pro587His) http://identifiers.org/clinvar/29705 ^@ NM_000143.3(FH):c.521C>G (p.Pro174Arg) http://identifiers.org/clinvar/29706 ^@ FH, DEL http://identifiers.org/clinvar/29707 ^@ NM_004960.3(FUS):c.1483C>T (p.Arg495Ter) http://identifiers.org/clinvar/29708 ^@ NM_004960.3(FUS):c.616G>A (p.Gly206Ser) http://identifiers.org/clinvar/29709 ^@ NM_001145661.1(GATA2):c.1192C>T (p.Arg398Trp) http://identifiers.org/clinvar/29710 ^@ NM_001145661.1(GATA2):c.761C>T (p.Pro254Leu) http://identifiers.org/clinvar/29711 ^@ NM_001145661.1(GATA2):c.1061C>T (p.Thr354Met) http://identifiers.org/clinvar/29712 ^@ NM_001145661.1(GATA2):c.-200_871+527del2032 http://identifiers.org/clinvar/29713 ^@ NM_001145661.1(GATA2):c.1084_1095delCGAAACGCCAAC (p.Arg362_Asn365del) http://identifiers.org/clinvar/29714 ^@ NM_001145661.1(GATA2):c.243delAinsGC (p.Gly82Argfs) http://identifiers.org/clinvar/29715 ^@ NM_032638.4(GATA2):c.599dupG (p.Ser201Terfs) http://identifiers.org/clinvar/29716 ^@ NM_001145661.1(GATA2):c.1018-1G>T http://identifiers.org/clinvar/29717 ^@ GATA2, 2-BP INS, 310CC http://identifiers.org/clinvar/29718 ^@ GATA2, 1-BP INS, 230C http://identifiers.org/clinvar/29719 ^@ NM_001145661.1(GATA2):c.1009C>T (p.Arg337Ter) http://identifiers.org/clinvar/29720 ^@ NM_001145661.1(GATA2):c.1117T>C (p.Cys373Arg) http://identifiers.org/clinvar/29721 ^@ NM_001145661.1(GATA2):c.1082G>T (p.Arg361Leu) http://identifiers.org/clinvar/29722 ^@ GATA2, 3-BP DEL, 1063ACA http://identifiers.org/clinvar/29723 ^@ SLC2A1, 3-BP INS, TAT http://identifiers.org/clinvar/29724 ^@ GOT1, 3-BP DEL, 1165AAC http://identifiers.org/clinvar/29725 ^@ NM_007327.3(GRIN1):c.1984G>A (p.Glu662Lys) http://identifiers.org/clinvar/29726 ^@ GRIN1, 3-BP DUP, SER560 http://identifiers.org/clinvar/29727 ^@ NM_002860.3(ALDH18A1):c.1923+1G>A http://identifiers.org/clinvar/29728 ^@ NM_000834.3(GRIN2B):c.411+1G>A http://identifiers.org/clinvar/29729 ^@ NM_000834.3(GRIN2B):c.803_804delCA (p.Thr268Serfs) http://identifiers.org/clinvar/29730 ^@ NM_000834.3(GRIN2B):c.2044C>T (p.Arg682Cys) http://identifiers.org/clinvar/29731 ^@ NM_000834.3(GRIN2B):c.2360-2A>G http://identifiers.org/clinvar/29732 ^@ NM_000833.4(GRIN2A):c.652C>T (p.Gln218Ter) http://identifiers.org/clinvar/29733 ^@ NM_000833.4(GRIN2A):c.1845C>A (p.Asn615Lys) http://identifiers.org/clinvar/29734 ^@ NM_002065.6(GLUL):c.970C>A (p.Arg324Ser) http://identifiers.org/clinvar/29735 ^@ NM_001244710.1(GFPT1):c.331C>T (p.Arg111Cys) http://identifiers.org/clinvar/29736 ^@ GFPT1, 1-BP INS, 222A http://identifiers.org/clinvar/29737 ^@ GFPT1, TRP240TER http://identifiers.org/clinvar/29738 ^@ GFPT1, ASP348TYR http://identifiers.org/clinvar/29739 ^@ NM_001244710.1(GFPT1):c.43A>G (p.Thr15Ala) http://identifiers.org/clinvar/29740 ^@ GFPT1, 1-BP DEL, NT621 http://identifiers.org/clinvar/29741 ^@ NM_005276.3(GPD1):c.361-1G>C http://identifiers.org/clinvar/29742 ^@ NM_002087.3(GRN):c.*78C>T http://identifiers.org/clinvar/29743 ^@ GRN, IVS6AS, G-A, -1 http://identifiers.org/clinvar/29744 ^@ CSF2RB, 1-BP DEL, 631C http://identifiers.org/clinvar/29745 ^@ NM_001077488.3(GNAS):c.1177G>T (p.Glu393Ter) http://identifiers.org/clinvar/29746 ^@ NM_001077488.3(GNAS):c.1166T>G (p.Leu389Arg) http://identifiers.org/clinvar/29747 ^@ NM_001077488.3(GNAS):c.1177G>A (p.Glu393Lys) http://identifiers.org/clinvar/29748 ^@ HBA2, 3-BP DEL, GLU30 http://identifiers.org/clinvar/29749 ^@ HBA2, GLY59ASP http://identifiers.org/clinvar/29750 ^@ HBA2, SER35PRO http://identifiers.org/clinvar/29751 ^@ HBB, 106-KB DEL http://identifiers.org/clinvar/29752 ^@ HBG2, HIS63LEU http://identifiers.org/clinvar/29753 ^@ NM_000184.2(HBG2):c.202G>A (p.Val68Met) http://identifiers.org/clinvar/29754 ^@ HBG2, T-G, -567 http://identifiers.org/clinvar/29755 ^@ NM_001242758.1(HLA-A):c.*66A>T http://identifiers.org/clinvar/29756 ^@ NM_002109.5(HARS):c.1361A>C (p.Tyr454Ser) http://identifiers.org/clinvar/29757 ^@ HLA-DRB1, DRB1*1501 http://identifiers.org/clinvar/29758 ^@ IGKC, TRP148ARG http://identifiers.org/clinvar/29759 ^@ IGKC, CYS194GLY http://identifiers.org/clinvar/29760 ^@ IRS1, 3-BP DEL, GLY723 http://identifiers.org/clinvar/29761 ^@ NM_005544.2(IRS1):c.2911G>A (p.Gly971Arg) http://identifiers.org/clinvar/29762 ^@ NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg) http://identifiers.org/clinvar/29763 ^@ NM_004972.3(JAK2):c.1849G>A (p.Val617Ile) http://identifiers.org/clinvar/29764 ^@ NM_000421.3(KRT10):c.1300C>T (p.Gln434Ter) http://identifiers.org/clinvar/29765 ^@ NM_000421.3(KRT10):c.1281C>A (p.Cys427Ter) http://identifiers.org/clinvar/29766 ^@ KRT10, 1-BP INS, 1325C http://identifiers.org/clinvar/29767 ^@ KRT10, IVS5DS, G-A, +5 http://identifiers.org/clinvar/29768 ^@ NM_004523.3(KIF11):c.1159C>T (p.Arg387Ter) http://identifiers.org/clinvar/29769 ^@ NM_004523.3(KIF11):c.1039_1040delCT (p.Leu347Glufs) http://identifiers.org/clinvar/29770 ^@ NM_004523.3(KIF11):c.2830C>T (p.Arg944Cys) http://identifiers.org/clinvar/29771 ^@ NM_004523.3(KIF11):c.1592delA (p.Gln531Argfs) http://identifiers.org/clinvar/29772 ^@ NM_004523.3(KIF11):c.2547+2T>C http://identifiers.org/clinvar/29773 ^@ NM_004523.3(KIF11):c.704C>G (p.Ser235Cys) http://identifiers.org/clinvar/29774 ^@ NM_002292.3(LAMB2):c.440A>G (p.His147Arg) http://identifiers.org/clinvar/29775 ^@ NM_170707.3(LMNA):c.1621C>G (p.Arg541Gly) http://identifiers.org/clinvar/29776 ^@ LIPC, ALA174THR http://identifiers.org/clinvar/29777 ^@ NM_000238.3(KCNH2):c.1841C>T (p.Ala614Val) http://identifiers.org/clinvar/29778 ^@ NM_000238.3(KCNH2):c.1831T>C (p.Tyr611His) http://identifiers.org/clinvar/29779 ^@ NM_138715.2(MSR1):c.760C>G (p.Leu254Val) http://identifiers.org/clinvar/29780 ^@ MAK, 353-BP ALU INS, EX9 http://identifiers.org/clinvar/29781 ^@ MAK, GLY240TER http://identifiers.org/clinvar/29782 ^@ NM_001242957.2(MAK):c.388A>C (p.Asn130His) http://identifiers.org/clinvar/29783 ^@ NM_001242957.2(MAK):c.37G>A (p.Gly13Ser) http://identifiers.org/clinvar/29784 ^@ NM_001242957.2(MAK):c.497G>A (p.Arg166His) http://identifiers.org/clinvar/29785 ^@ NM_002382.4(MAX):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/29786 ^@ NM_002382.4(MAX):c.223C>T (p.Arg75Ter) http://identifiers.org/clinvar/29787 ^@ MAX, IVS4DS, G-A, +1 http://identifiers.org/clinvar/29788 ^@ NM_002382.4(MAX):c.97C>T (p.Arg33Ter) http://identifiers.org/clinvar/29789 ^@ MAX, 1-BP DEL, 185A http://identifiers.org/clinvar/29790 ^@ MTAP, 885A-G, ARG100ARG http://identifiers.org/clinvar/29791 ^@ MTAP, IVS9AS, A-G, -2 http://identifiers.org/clinvar/29792 ^@ NM_000248.3(MITF):c.952G>A (p.Glu318Lys) http://identifiers.org/clinvar/29793 ^@ SLC20A2, GLY498ARG http://identifiers.org/clinvar/29794 ^@ NM_001257180.1(SLC20A2):c.1802C>G (p.Ser601Trp) http://identifiers.org/clinvar/29795 ^@ NM_001257180.1(SLC20A2):c.1802C>T (p.Ser601Leu) http://identifiers.org/clinvar/29796 ^@ NM_006749.4(SLC20A2):c.1723G>A (p.Glu575Lys) http://identifiers.org/clinvar/29797 ^@ NM_006749.4(SLC20A2):c.1784C>T (p.Thr595Met) http://identifiers.org/clinvar/29798 ^@ NM_002433.4(MOG):c.398C>G (p.Ser133Cys) http://identifiers.org/clinvar/29799 ^@ NM_002471.3(MYH6):c.2161C>T (p.Arg721Trp) http://identifiers.org/clinvar/29800 ^@ NM_002465.3(MYBPC1):c.706T>C (p.Trp236Arg) http://identifiers.org/clinvar/29801 ^@ NM_002465.3(MYBPC1):c.2566T>C (p.Tyr856His) http://identifiers.org/clinvar/29802 ^@ NGF, 680C-A AND 2-BP DEL, 681GG http://identifiers.org/clinvar/29803 ^@ NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) http://identifiers.org/clinvar/29804 ^@ NM_001626.5(AKT2):c.49G>A (p.Glu17Lys) http://identifiers.org/clinvar/29805 ^@ NM_004333.4(BRAF):c.722C>T (p.Thr241Met) http://identifiers.org/clinvar/29806 ^@ NM_004333.4(BRAF):c.722C>G (p.Thr241Arg) http://identifiers.org/clinvar/29807 ^@ NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) http://identifiers.org/clinvar/29808 ^@ NM_004333.4(BRAF):c.1593G>C (p.Trp531Cys) http://identifiers.org/clinvar/29810 ^@ NM_005211.3(CSF1R):c.2624T>C (p.Met875Thr) http://identifiers.org/clinvar/29811 ^@ NM_005211.3(CSF1R):c.1897G>A (p.Glu633Lys) http://identifiers.org/clinvar/29812 ^@ NM_005211.3(CSF1R):c.1754-2A>G http://identifiers.org/clinvar/29813 ^@ NM_005211.3(CSF1R):c.2381T>C (p.Ile794Thr) http://identifiers.org/clinvar/29814 ^@ NM_005211.3(CSF1R):c.2509G>T (p.Asp837Tyr) http://identifiers.org/clinvar/29815 ^@ FOXG1, 1-BP DUP, 460G http://identifiers.org/clinvar/29816 ^@ NM_005247.2(FGF3):c.146A>G (p.Tyr49Cys) http://identifiers.org/clinvar/29817 ^@ NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys) http://identifiers.org/clinvar/29818 ^@ NM_005247.2(FGF3):c.457_458delTG (p.Trp153Valfs) http://identifiers.org/clinvar/29819 ^@ NM_003392.4(WNT5A):c.544T>C (p.Cys182Arg) http://identifiers.org/clinvar/29820 ^@ NM_003392.4(WNT5A):c.248G>C (p.Cys83Ser) http://identifiers.org/clinvar/29821 ^@ CBL, IVS8AS, A-G, -2 http://identifiers.org/clinvar/29822 ^@ NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) http://identifiers.org/clinvar/29823 ^@ NM_005188.3(CBL):c.1186T>C (p.Cys396Arg) http://identifiers.org/clinvar/29824 ^@ NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) http://identifiers.org/clinvar/29825 ^@ NM_006902.4(PRRX1):c.338T>C (p.Phe113Ser) http://identifiers.org/clinvar/29826 ^@ PRRX1, ALA231PRO http://identifiers.org/clinvar/29827 ^@ PLIN1, IVS8AS, G-T, -1 http://identifiers.org/clinvar/29828 ^@ PLIN1, 2-BP DEL, 1191AG http://identifiers.org/clinvar/29829 ^@ NM_001111035.2(ACP5):c.266C>T (p.Thr89Ile) http://identifiers.org/clinvar/29830 ^@ NM_001111035.2(ACP5):c.667C>T (p.Gln223Ter) http://identifiers.org/clinvar/29831 ^@ NM_001111035.2(ACP5):c.791T>A (p.Met264Lys) http://identifiers.org/clinvar/29832 ^@ ACP5, GLY215ARG http://identifiers.org/clinvar/29833 ^@ NM_001111035.2(ACP5):c.325G>A (p.Gly109Arg) http://identifiers.org/clinvar/29834 ^@ NM_001111035.2(ACP5):c.831_833delCTA (p.Tyr278del) http://identifiers.org/clinvar/29835 ^@ NM_001111035.2(ACP5):c.602T>C (p.Leu201Pro) http://identifiers.org/clinvar/29836 ^@ PLN, -77A-G http://identifiers.org/clinvar/29837 ^@ PLN, -42C-G http://identifiers.org/clinvar/29838 ^@ PLN, -36A-C http://identifiers.org/clinvar/29840 ^@ SERPINF1, 2-BP DUP, 324CT http://identifiers.org/clinvar/29842 ^@ NM_006208.2(ENPP1):c.913C>A (p.Pro305Thr) http://identifiers.org/clinvar/29843 ^@ NM_006208.2(ENPP1):c.1612G>C (p.Asp538His) http://identifiers.org/clinvar/29844 ^@ ENPP1, IVS7, G-A, +1 http://identifiers.org/clinvar/29845 ^@ ENPP1, GLY586ARG http://identifiers.org/clinvar/29846 ^@ NM_000313.3(PROS1):c.1063C>T (p.Arg355Cys) http://identifiers.org/clinvar/29847 ^@ PROS1, 1-BP INS, 146A http://identifiers.org/clinvar/29848 ^@ PROS1, ARG410TER http://identifiers.org/clinvar/29849 ^@ NM_000313.3(PROS1):c.701A>G (p.Tyr234Cys) http://identifiers.org/clinvar/29850 ^@ PROZ, GLU30GLN http://identifiers.org/clinvar/29851 ^@ F2, TYR44CYS http://identifiers.org/clinvar/29852 ^@ NG_012449.2:g.83400_83462del http://identifiers.org/clinvar/29853 ^@ NM_000141.4(FGFR2):c.1009G>C (p.Ala337Pro) http://identifiers.org/clinvar/29854 ^@ NM_000141.4(FGFR2):c.1009G>A (p.Ala337Thr) http://identifiers.org/clinvar/29855 ^@ NM_000141.4(FGFR2):c.1172T>G (p.Met391Arg) http://identifiers.org/clinvar/29856 ^@ NM_000141.4(FGFR2):c.1141T>G (p.Tyr381Asp) http://identifiers.org/clinvar/29857 ^@ NM_002739.3(PRKCG):c.530_919del http://identifiers.org/clinvar/29858 ^@ NM_002739.4(PRKCG):c.1438G>T (p.Asp480Tyr) http://identifiers.org/clinvar/29859 ^@ PSMB8, THR75MET http://identifiers.org/clinvar/29860 ^@ NM_004159.4(PSMB8):c.590G>T (p.Gly197Val) http://identifiers.org/clinvar/29861 ^@ PSMB8, GLY201VAL http://identifiers.org/clinvar/29862 ^@ PSMB8, CYS135TER http://identifiers.org/clinvar/29863 ^@ NM_006907.3(PYCR1):c.769G>A (p.Ala257Thr) http://identifiers.org/clinvar/29864 ^@ NM_006907.3(PYCR1):c.345delC (p.Arg116Glyfs) http://identifiers.org/clinvar/29865 ^@ NM_006907.3(PYCR1):c.743G>A (p.Gly248Glu) http://identifiers.org/clinvar/29867 ^@ RAG1, 1-BP DEL, 1621C http://identifiers.org/clinvar/29868 ^@ NM_002875.4(RAD51):c.760C>T (p.Arg254Ter) http://identifiers.org/clinvar/29869 ^@ NM_002875.4(RAD51):c.855dupA (p.Pro286Thrfs) http://identifiers.org/clinvar/29870 ^@ NM_000329.2(RPE65):c.1102T>C (p.Tyr368His) http://identifiers.org/clinvar/29871 ^@ RPE65, IVS1, G-A, +5 http://identifiers.org/clinvar/29872 ^@ NM_000329.2(RPE65):c.907A>T (p.Lys303Ter) http://identifiers.org/clinvar/29873 ^@ NM_000329.2(RPE65):c.1292A>G (p.Tyr431Cys) http://identifiers.org/clinvar/29874 ^@ NM_000440.2(PDE6A):c.2053G>A (p.Val685Met) http://identifiers.org/clinvar/29875 ^@ NM_000539.3(RHO):c.482G>A (p.Trp161Ter) http://identifiers.org/clinvar/242691 ^@ NM_000540.2(RYR1):c.5726_5727delAG (p.Glu1909Glyfs) http://identifiers.org/clinvar/133075 ^@ NM_000540.2(RYR1):c.14524G>A (p.Val4842Met) http://identifiers.org/clinvar/29878 ^@ NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) http://identifiers.org/clinvar/29879 ^@ NM_001035.2(RYR2):c.169-199_273+819del http://identifiers.org/clinvar/29880 ^@ NM_003041.3(SLC5A2):c.127-16C>A http://identifiers.org/clinvar/29881 ^@ NM_003041.3(SLC5A2):c.1435C>G (p.Arg479Gly) http://identifiers.org/clinvar/29882 ^@ NM_003041.3(SLC5A2):c.294C>A (p.Phe98Leu) http://identifiers.org/clinvar/29883 ^@ NM_006920.4(SCN1A):c.4973C>A (p.Ala1658Glu) http://identifiers.org/clinvar/29884 ^@ NM_006920.4(SCN1A):c.2551C>G (p.Arg851Gly) http://identifiers.org/clinvar/29885 ^@ NM_001040142.1(SCN2A):c.304C>T (p.Arg102Ter) http://identifiers.org/clinvar/29886 ^@ NM_021007.2(SCN2A):c.3631G>A (p.Glu1211Lys) http://identifiers.org/clinvar/29887 ^@ NM_001040142.1(SCN2A):c.4419A>G (p.Ile1473Met) http://identifiers.org/clinvar/29888 ^@ NM_021007.2(SCN2A):c.788C>T (p.Ala263Val) http://identifiers.org/clinvar/29889 ^@ NM_001040142.1(SCN2A):c.754A>G (p.Met252Val) http://identifiers.org/clinvar/29890 ^@ NM_003106.3(SOX2):c.58_59dupGG (p.Gly21Alafs) http://identifiers.org/clinvar/29891 ^@ NM_003106.3(SOX2):c.245T>A (p.Leu82Ter) http://identifiers.org/clinvar/29892 ^@ NM_005213.3(CSTA):c.67-2A>T http://identifiers.org/clinvar/29893 ^@ NM_005213.3(CSTA):c.256C>T (p.Gln86Ter) http://identifiers.org/clinvar/29894 ^@ NM_004959.4(NR5A1):c.392C>T (p.Pro131Leu) http://identifiers.org/clinvar/29895 ^@ NM_004959.4(NR5A1):c.634G>A (p.Gly212Ser) http://identifiers.org/clinvar/29896 ^@ NM_003000.2(SDHB):c.423+1G>A http://identifiers.org/clinvar/29897 ^@ NM_003172.3(SURF1):c.679T>C (p.Trp227Arg) http://identifiers.org/clinvar/29898 ^@ NM_000616.4(CD4):c.793C>T (p.Arg265Trp) http://identifiers.org/clinvar/29899 ^@ NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) http://identifiers.org/clinvar/29900 ^@ NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) http://identifiers.org/clinvar/29901 ^@ NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) http://identifiers.org/clinvar/29903 ^@ NM_000361.2(THBD):c.1209G>T (p.Arg403Ser) http://identifiers.org/clinvar/29904 ^@ THBD, ALA455VAL http://identifiers.org/clinvar/29905 ^@ NM_001060.5(TBXA2R):c.910G>A (p.Asp304Asn) http://identifiers.org/clinvar/29906 ^@ NM_003235.4(TG):c.-1623A>G http://identifiers.org/clinvar/29907 ^@ NM_002734.4(PRKAR1A):c.1102C>T (p.Arg368Ter) http://identifiers.org/clinvar/29908 ^@ NM_002734.4(PRKAR1A):c.1117T>C (p.Tyr373His) http://identifiers.org/clinvar/29909 ^@ NM_002734.4(PRKAR1A):c.1004G>C (p.Arg335Pro) http://identifiers.org/clinvar/29910 ^@ NM_002734.4(PRKAR1A):c.980T>C (p.Ile327Thr) http://identifiers.org/clinvar/29911 ^@ NM_005343.3(HRAS):c.110_111+1dupAGG http://identifiers.org/clinvar/29912 ^@ NM_005343.3(HRAS):c.108_110dupAGA (p.Glu37_Asp38insGlu) http://identifiers.org/clinvar/29913 ^@ NM_001190919.1(THRA):c.134G>T (p.Ser45Ile) http://identifiers.org/clinvar/29914 ^@ NM_001190919.1(THRA):c.1110G>C (p.Lys370Asn) http://identifiers.org/clinvar/29915 ^@ NM_004612.3(TGFBR1):c.134A>G (p.Asn45Ser) http://identifiers.org/clinvar/29916 ^@ NM_004612.3(TGFBR1):c.154G>C (p.Gly52Arg) http://identifiers.org/clinvar/29917 ^@ NM_004612.3(TGFBR1):c.806-2A>C http://identifiers.org/clinvar/29918 ^@ NM_004612.3(TGFBR1):c.1240C>T (p.Arg414Ter) http://identifiers.org/clinvar/29920 ^@ NM_001012331.1(NTRK1):c.207_208delTG (p.Glu70Alafs) http://identifiers.org/clinvar/29921 ^@ NC_000010.11:g.73899258_73977195dup77938 http://identifiers.org/clinvar/29922 ^@ NM_000065.3(C6):c.237delC (p.Ile80Serfs) http://identifiers.org/clinvar/29923 ^@ NM_002769.4(PRSS1):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/29924 ^@ NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn) http://identifiers.org/clinvar/29925 ^@ NM_000260.3(MYO7A):c.2011G>A (p.Gly671Ser) http://identifiers.org/clinvar/29926 ^@ NM_000260.3(MYO7A):c.1184G>A (p.Arg395His) http://identifiers.org/clinvar/29927 ^@ NM_003491.3(NAA10):c.109T>C (p.Ser37Pro) http://identifiers.org/clinvar/29928 ^@ NM_001110556.1(FLNA):c.7896G>A (p.Trp2632Ter) http://identifiers.org/clinvar/29929 ^@ NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) http://identifiers.org/clinvar/29930 ^@ SMC1A, 8.152-KB DEL http://identifiers.org/clinvar/29931 ^@ NM_004586.2(RPS6KA3):c.457_459delGGA (p.Gly153del) http://identifiers.org/clinvar/29932 ^@ NM_004586.2(RPS6KA3):c.343A>T (p.Thr115Ser) http://identifiers.org/clinvar/29933 ^@ NM_001493.2(GDI1):c.1184_1185delAG (p.Ser396Profs) http://identifiers.org/clinvar/29934 ^@ NG_008960.1:g.224486-?_245539+?del http://identifiers.org/clinvar/29935 ^@ NG_016260.1:g.138880_185296del46417 http://identifiers.org/clinvar/29936 ^@ NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) http://identifiers.org/clinvar/29937 ^@ NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) http://identifiers.org/clinvar/29938 ^@ NM_003688.3(CASK):c.2506-2A>T http://identifiers.org/clinvar/29939 ^@ NM_003688.3(CASK):c.316C>T (p.Arg106Ter) http://identifiers.org/clinvar/29940 ^@ NG_016754.1:g.5000-?_5105+?del http://identifiers.org/clinvar/29941 ^@ NM_003688.3(CASK):c.1639C>T (p.Gln547Ter) http://identifiers.org/clinvar/29942 ^@ NM_021120.3(DLG3):c.1092dupC (p.Thr365Hisfs) http://identifiers.org/clinvar/29943 ^@ NM_021120.3(DLG3):c.1373C>G (p.Ser458Ter) http://identifiers.org/clinvar/29944 ^@ NG_008292.1:g.700375-?_1335033+?del http://identifiers.org/clinvar/29945 ^@ NM_014332.2(SMPX):c.175G>T (p.Gly59Ter) http://identifiers.org/clinvar/29946 ^@ NM_014332.2(SMPX):c.109G>T (p.Glu37Ter) http://identifiers.org/clinvar/29947 ^@ NM_014332.2(SMPX):c.214G>T (p.Glu72Ter) http://identifiers.org/clinvar/29948 ^@ NM_014332.2(SMPX):c.130delG (p.Glu44Argfs) http://identifiers.org/clinvar/29949 ^@ NM_001042537.1(SLC9A6):c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) http://identifiers.org/clinvar/29950 ^@ NM_013444.3(UBQLN2):c.1490C>A (p.Pro497His) http://identifiers.org/clinvar/29951 ^@ NM_013444.3(UBQLN2):c.1489C>T (p.Pro497Ser) http://identifiers.org/clinvar/29952 ^@ NM_013444.3(UBQLN2):c.1516C>A (p.Pro506Thr) http://identifiers.org/clinvar/29953 ^@ NM_013444.3(UBQLN2):c.1525C>T (p.Pro509Ser) http://identifiers.org/clinvar/29954 ^@ NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) http://identifiers.org/clinvar/29955 ^@ NM_003413.3(ZIC3):c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) http://identifiers.org/clinvar/29956 ^@ NM_015884.3(MBTPS2):c.1523A>G (p.Asn508Ser) http://identifiers.org/clinvar/29957 ^@ NM_001143981.1(CHRDL1):c.872delG (p.Cys291Leufs) http://identifiers.org/clinvar/29958 ^@ NM_001143981.1(CHRDL1):c.782G>T (p.Cys261Phe) http://identifiers.org/clinvar/29959 ^@ NM_001143981.1(CHRDL1):c.301+2T>G http://identifiers.org/clinvar/29960 ^@ NM_001143981.1(CHRDL1):c.101_102delAG (p.Glu34Aspfs) http://identifiers.org/clinvar/29961 ^@ NM_001143981.1(CHRDL1):c.652C>T (p.Arg218Ter) http://identifiers.org/clinvar/29962 ^@ NM_004006.2(DMD):c.9G>A (p.Trp3Ter) http://identifiers.org/clinvar/29963 ^@ NM_139058.2(ARX):c.435_461dup27 (p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/29964 ^@ NM_139058.2(ARX):c.81C>G (p.Tyr27Ter) http://identifiers.org/clinvar/29965 ^@ NM_139058.2(ARX):c.1604T>A (p.Leu535Gln) http://identifiers.org/clinvar/29966 ^@ NM_000377.2(WAS):c.814T>C (p.Ser272Pro) http://identifiers.org/clinvar/29967 ^@ NM_000377.2(WAS):c.881T>C (p.Ile294Thr) http://identifiers.org/clinvar/29968 ^@ NM_001173479.1(ARHGEF9):c.4C>T (p.Gln2Ter) http://identifiers.org/clinvar/29969 ^@ NM_000397.3(CYBB):c.692A>C (p.Gln231Pro) http://identifiers.org/clinvar/29970 ^@ NM_000397.3(CYBB):c.532A>C (p.Thr178Pro) http://identifiers.org/clinvar/29971 ^@ OCRL, ARG476TRP http://identifiers.org/clinvar/29972 ^@ OCRL, ILE526THR http://identifiers.org/clinvar/29973 ^@ OCRL, 2-BP DEL, 166TT http://identifiers.org/clinvar/29974 ^@ NM_004463.2(FGD1):c.1966C>T (p.Arg656Ter) http://identifiers.org/clinvar/29975 ^@ NM_033290.3(MID1):c.712G>T (p.Glu238Ter) http://identifiers.org/clinvar/29976 ^@ NM_194277.2(FRMD7):c.691T>G (p.Leu231Val) http://identifiers.org/clinvar/29977 ^@ NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr) http://identifiers.org/clinvar/29978 ^@ FRMD7, IVS11, G-A, +5 http://identifiers.org/clinvar/29979 ^@ NM_152424.3(AMER1):c.429T>A (p.Cys143Ter) http://identifiers.org/clinvar/29980 ^@ NM_203473.2(PORCN):c.1094G>A (p.Arg365Gln) http://identifiers.org/clinvar/29981 ^@ MAGT1, IVS7AS, 10-BP DEL, -6 http://identifiers.org/clinvar/29982 ^@ NM_032121.5(MAGT1):c.409C>T (p.Arg137Ter) http://identifiers.org/clinvar/29983 ^@ AFF2, 121- to 145-KB DEL http://identifiers.org/clinvar/29984 ^@ NC_000023.9:g.9688757-?_9693917+?del http://identifiers.org/clinvar/29985 ^@ NM_000194.2(HPRT1):c.143G>A (p.Arg48His) http://identifiers.org/clinvar/29986 ^@ NM_000425.4(L1CAM):c.3458-1G>C http://identifiers.org/clinvar/29987 ^@ FMR1, SER27TER http://identifiers.org/clinvar/29988 ^@ NM_002641.3(PIGA):c.1234C>T (p.Arg412Ter) http://identifiers.org/clinvar/29989 ^@ NM_002764.3(PRPS1):c.424G>C (p.Val142Leu) http://identifiers.org/clinvar/29990 ^@ NM_006013.4(RPL10):c.616C>A (p.Leu206Met) http://identifiers.org/clinvar/29991 ^@ NM_006013.4(RPL10):c.639C>G (p.His213Gln) http://identifiers.org/clinvar/29992 ^@ UBE2A, GLY23ARG http://identifiers.org/clinvar/29993 ^@ NM_003336.3(UBE2A):c.32G>A (p.Arg11Gln) http://identifiers.org/clinvar/29994 ^@ NM_000451.3(SHOX):c.508G>C (p.Ala170Pro) http://identifiers.org/clinvar/29995 ^@ NM_000451.3(SHOX):c.509C>A (p.Ala170Asp) http://identifiers.org/clinvar/29996 ^@ NM_004187.3(KDM5C):c.2172C>A (p.Cys724Ter) http://identifiers.org/clinvar/29997 ^@ NM_004187.3(KDM5C):c.1660C>A (p.Pro554Thr) http://identifiers.org/clinvar/29998 ^@ m.3388C>A http://identifiers.org/clinvar/29999 ^@ m.12338T>C http://identifiers.org/clinvar/30000 ^@ m.10450A>G http://identifiers.org/clinvar/30001 ^@ m.5814T>C http://identifiers.org/clinvar/30002 ^@ m.5816A>G http://identifiers.org/clinvar/30003 ^@ m.14674T>G http://identifiers.org/clinvar/30004 ^@ m.12201T>C http://identifiers.org/clinvar/30005 ^@ m.586G>A http://identifiers.org/clinvar/30006 ^@ m.608A>G http://identifiers.org/clinvar/30007 ^@ m.5556G>A http://identifiers.org/clinvar/30008 ^@ NM_003070.4(SMARCA2):c.3637C>T (p.Arg1213Trp) http://identifiers.org/clinvar/30009 ^@ NM_003070.4(SMARCA2):c.3604G>T (p.Gly1202Cys) http://identifiers.org/clinvar/30010 ^@ NM_003070.4(SMARCA2):c.3476G>A (p.Arg1159Gln) http://identifiers.org/clinvar/30011 ^@ NM_003070.4(SMARCA2):c.3473A>T (p.Asp1158Val) http://identifiers.org/clinvar/30012 ^@ NM_003070.4(SMARCA2):c.3475C>G (p.Arg1159Gly) http://identifiers.org/clinvar/30013 ^@ NM_003070.4(SMARCA2):c.2642G>T (p.Gly881Val) http://identifiers.org/clinvar/30014 ^@ NM_003070.4(SMARCA2):c.3485G>A (p.Arg1162His) http://identifiers.org/clinvar/30015 ^@ NM_003070.4(SMARCA2):c.3476G>T (p.Arg1159Leu) http://identifiers.org/clinvar/30016 ^@ NM_003070.4(SMARCA2):c.2648C>T (p.Pro883Leu) http://identifiers.org/clinvar/30017 ^@ NM_003070.4(SMARCA2):c.3602C>T (p.Ala1201Val) http://identifiers.org/clinvar/30018 ^@ NM_003070.4(SMARCA2):c.2815C>T (p.His939Tyr) http://identifiers.org/clinvar/30019 ^@ NM_003070.4(SMARCA2):c.2255G>C (p.Gly752Ala) http://identifiers.org/clinvar/30020 ^@ SMARCA2, 55-KB DEL http://identifiers.org/clinvar/30021 ^@ NM_005221.5(DLX5):c.533A>C (p.Gln178Pro) http://identifiers.org/clinvar/30022 ^@ OTX2, 1-BP INS, 402C http://identifiers.org/clinvar/30023 ^@ NM_172337.2(OTX2):c.674A>G (p.Asn225Ser) http://identifiers.org/clinvar/30024 ^@ OTX2, 2-BP INS, 576CT http://identifiers.org/clinvar/30025 ^@ NM_172337.2(OTX2):c.413C>G (p.Ser138Ter) http://identifiers.org/clinvar/30026 ^@ OTX2, 16-BP DEL, NT221 http://identifiers.org/clinvar/30027 ^@ NM_172337.2(OTX2):c.562G>T (p.Gly188Ter) http://identifiers.org/clinvar/30028 ^@ OTX2, ARG90SER http://identifiers.org/clinvar/30029 ^@ NM_001376.4(DYNC1H1):c.917A>G (p.His306Arg) http://identifiers.org/clinvar/30030 ^@ NM_001376.4(DYNC1H1):c.11465A>C (p.His3822Pro) http://identifiers.org/clinvar/30031 ^@ NM_001376.4(DYNC1H1):c.4552G>A (p.Glu1518Lys) http://identifiers.org/clinvar/30032 ^@ NM_001376.4(DYNC1H1):c.1750A>C (p.Ile584Leu) http://identifiers.org/clinvar/30033 ^@ NM_001376.4(DYNC1H1):c.2011A>G (p.Lys671Glu) http://identifiers.org/clinvar/30034 ^@ NM_001376.4(DYNC1H1):c.2909A>G (p.Tyr970Cys) http://identifiers.org/clinvar/30035 ^@ NM_001165899.1(PDE4D):c.490C>A (p.Pro164Thr) http://identifiers.org/clinvar/30036 ^@ NM_001165899.1(PDE4D):c.494T>C (p.Phe165Ser) http://identifiers.org/clinvar/30037 ^@ NM_001165899.1(PDE4D):c.385T>G (p.Ser129Ala) http://identifiers.org/clinvar/30038 ^@ NM_001165899.1(PDE4D):c.1576A>C (p.Thr526Pro) http://identifiers.org/clinvar/30039 ^@ NM_001165899.1(PDE4D):c.499C>G (p.Gln167Glu) http://identifiers.org/clinvar/30040 ^@ NM_001165899.1(PDE4D):c.1769A>C (p.Glu590Ala) http://identifiers.org/clinvar/30041 ^@ NM_001165899.1(PDE4D):c.1835G>A (p.Gly612Asp) http://identifiers.org/clinvar/30042 ^@ NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) http://identifiers.org/clinvar/30043 ^@ CDKN2A, IVS1BDS, A-G, +1 http://identifiers.org/clinvar/30044 ^@ CDKN2A, ARG54HIS http://identifiers.org/clinvar/30045 ^@ NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) http://identifiers.org/clinvar/30046 ^@ NM_198056.2(SCN5A):c.1333C>G (p.His445Asp) http://identifiers.org/clinvar/30047 ^@ NM_000335.4(SCN5A):c.1410C>G (p.Asn470Lys) http://identifiers.org/clinvar/30048 ^@ NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) http://identifiers.org/clinvar/30049 ^@ NM_000335.4(SCN5A):c.1963G>A (p.Glu655Lys) http://identifiers.org/clinvar/30050 ^@ PLCG2, 5.9-KB DEL http://identifiers.org/clinvar/30051 ^@ PLCG2, 8.2-KB DEL http://identifiers.org/clinvar/30052 ^@ PLCG2, 4.8-KB DEL http://identifiers.org/clinvar/30053 ^@ NM_000459.4(TEK):c.2690A>G (p.Tyr897Cys) http://identifiers.org/clinvar/30054 ^@ NM_000459.4(TEK):c.2744G>A (p.Arg915His) http://identifiers.org/clinvar/30055 ^@ NOTCH2, 1-BP DEL, 6272T http://identifiers.org/clinvar/30056 ^@ NOTCH2, 1-BP DEL, 6460T http://identifiers.org/clinvar/30057 ^@ NM_024408.3(NOTCH2):c.6622C>T (p.Gln2208Ter) http://identifiers.org/clinvar/30058 ^@ NOTCH2, TYR2373TER http://identifiers.org/clinvar/30059 ^@ NM_024408.3(NOTCH2):c.6949C>T (p.Gln2317Ter) http://identifiers.org/clinvar/30060 ^@ NM_024408.3(NOTCH2):c.6895G>T (p.Glu2299Ter) http://identifiers.org/clinvar/30061 ^@ NM_024408.3(NOTCH2):c.7165C>T (p.Gln2389Ter) http://identifiers.org/clinvar/30062 ^@ PEX19, 1-BP DEL, 320A http://identifiers.org/clinvar/30063 ^@ NM_005431.1(XRCC2):c.643C>T (p.Arg215Ter) http://identifiers.org/clinvar/30064 ^@ NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val) http://identifiers.org/clinvar/30065 ^@ NM_001354.5(AKR1C2):c.270T>G (p.His90Gln) http://identifiers.org/clinvar/30066 ^@ NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) http://identifiers.org/clinvar/30067 ^@ AKR1C2, HIS222GLN http://identifiers.org/clinvar/30068 ^@ NM_001818.3(AKR1C4):c.85-106G>T http://identifiers.org/clinvar/30069 ^@ SKIV2L, TRP283TER http://identifiers.org/clinvar/30070 ^@ NM_006929.4(SKIV2L):c.1022T>G (p.Val341Gly) http://identifiers.org/clinvar/30071 ^@ SKIV2L, 1-BP INS, 1635A http://identifiers.org/clinvar/30072 ^@ NM_198241.2(EIF4G1):c.3614G>A (p.Arg1205His) http://identifiers.org/clinvar/30073 ^@ NM_198241.2(EIF4G1):c.1505C>T (p.Ala502Val) http://identifiers.org/clinvar/30074 ^@ NM_139125.3(MASP1):c.1489C>T (p.His497Tyr) http://identifiers.org/clinvar/30075 ^@ NM_139125.3(MASP1):c.1888T>C (p.Cys630Arg) http://identifiers.org/clinvar/30076 ^@ NM_139125.3(MASP1):c.1997G>A (p.Gly666Glu) http://identifiers.org/clinvar/30077 ^@ MASP1, GLY687ARG http://identifiers.org/clinvar/30078 ^@ MASP1, TRP290TER http://identifiers.org/clinvar/30079 ^@ NM_001698.2(AUH):c.559G>A (p.Gly187Ser) http://identifiers.org/clinvar/30080 ^@ NM_001698.2(AUH):c.650G>A (p.Gly217Asp) http://identifiers.org/clinvar/30081 ^@ NM_001698.2(AUH):c.991A>T (p.Lys331Ter) http://identifiers.org/clinvar/30082 ^@ NM_007315.3(STAT1):c.603G>T (p.Lys201Asn) http://identifiers.org/clinvar/30083 ^@ NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) http://identifiers.org/clinvar/30084 ^@ NM_007315.3(STAT1):c.800C>T (p.Ala267Val) http://identifiers.org/clinvar/30085 ^@ NM_007315.3(STAT1):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/30086 ^@ NM_007315.3(STAT1):c.857A>T (p.Lys286Ile) http://identifiers.org/clinvar/30087 ^@ NM_007315.3(STAT1):c.604A>G (p.Met202Val) http://identifiers.org/clinvar/30088 ^@ NM_007315.3(STAT1):c.520T>C (p.Cys174Arg) http://identifiers.org/clinvar/30089 ^@ NM_007315.3(STAT1):c.494A>G (p.Asp165Gly) http://identifiers.org/clinvar/30090 ^@ NM_007315.3(STAT1):c.862A>G (p.Thr288Ala) http://identifiers.org/clinvar/30091 ^@ NM_007315.3(STAT1):c.508T>A (p.Tyr170Asn) http://identifiers.org/clinvar/30092 ^@ NM_007315.3(STAT1):c.493G>C (p.Asp165His) http://identifiers.org/clinvar/30093 ^@ STAT1, MET202ILE http://identifiers.org/clinvar/30094 ^@ NM_007315.3(STAT1):c.812A>C (p.Gln271Pro) http://identifiers.org/clinvar/30095 ^@ NRXN1, 4-BP INS, 4205ACGG http://identifiers.org/clinvar/30096 ^@ NRXN1, 79-KB DEL http://identifiers.org/clinvar/30097 ^@ NRXN1, 287-KB DEL http://identifiers.org/clinvar/30098 ^@ NM_002052.4(GATA4):c.886G>T (p.Gly296Cys) http://identifiers.org/clinvar/30099 ^@ NM_002052.4(GATA4):c.487C>T (p.Pro163Ser) http://identifiers.org/clinvar/30100 ^@ NM_002052.4(GATA4):c.1037C>T (p.Ala346Val) http://identifiers.org/clinvar/30101 ^@ NM_002052.4(GATA4):c.1075G>A (p.Glu359Lys) http://identifiers.org/clinvar/30102 ^@ NM_002052.4(GATA4):c.1325C>T (p.Ala442Val) http://identifiers.org/clinvar/30103 ^@ NM_002052.4(GATA4):c.1220C>A (p.Pro407Gln) http://identifiers.org/clinvar/30104 ^@ GATA4, 3-BP INS, 354GCC http://identifiers.org/clinvar/30106 ^@ NM_002052.4(GATA4):c.886G>C (p.Gly296Arg) http://identifiers.org/clinvar/30107 ^@ NM_002052.4(GATA4):c.127C>T (p.Arg43Trp) http://identifiers.org/clinvar/30108 ^@ NM_002052.4(GATA4):c.839C>T (p.Thr280Met) http://identifiers.org/clinvar/30109 ^@ NM_002052.4(GATA4):c.928A>G (p.Met310Val) http://identifiers.org/clinvar/30110 ^@ PTPRO, IVS16DS, G-T, +1 http://identifiers.org/clinvar/30111 ^@ PTPRO, IVS19DS, G-A, +1 http://identifiers.org/clinvar/30112 ^@ NM_004387.3(NKX2-5):c.44A>T (p.Lys15Ile) http://identifiers.org/clinvar/30113 ^@ NM_004387.3(NKX2-5):c.380C>A (p.Ala127Glu) http://identifiers.org/clinvar/30114 ^@ NKX2-5, 3-BP DEL, 871AAC http://identifiers.org/clinvar/30115 ^@ NM_004387.3(NKX2-5):c.848C>A (p.Pro283Gln) http://identifiers.org/clinvar/30116 ^@ NM_004387.3(NKX2-5):c.175C>G (p.Pro59Ala) http://identifiers.org/clinvar/30117 ^@ NM_004387.3(NKX2-5):c.769C>G (p.Pro257Ala) http://identifiers.org/clinvar/92428 ^@ NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys) http://identifiers.org/clinvar/92429 ^@ NM_000098.2(CPT2):c.1102G>A (p.Val368Ile) http://identifiers.org/clinvar/30119 ^@ NM_000891.2(KCNJ2):c.161G>T (p.Cys54Phe) http://identifiers.org/clinvar/30120 ^@ NM_000891.2(KCNJ2):c.913A>C (p.Thr305Pro) http://identifiers.org/clinvar/30121 ^@ NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) http://identifiers.org/clinvar/30122 ^@ HMGA1, 1-BP INS, IVS5, -13 http://identifiers.org/clinvar/30123 ^@ NM_014191.3(SCN8A):c.5302A>G (p.Asn1768Asp) http://identifiers.org/clinvar/30124 ^@ NM_000209.3(PDX1):c.533A>G (p.Glu178Gly) http://identifiers.org/clinvar/30125 ^@ NM_000890.3(KCNJ5):c.472A>G (p.Thr158Ala) http://identifiers.org/clinvar/30126 ^@ NM_002458.2(MUC5B):c.-3133G>T http://identifiers.org/clinvar/30127 ^@ NM_005959.3(MTNR1B):c.124G>C (p.Ala42Pro) http://identifiers.org/clinvar/30128 ^@ NM_005959.3(MTNR1B):c.179T>G (p.Leu60Arg) http://identifiers.org/clinvar/30129 ^@ NM_005959.3(MTNR1B):c.284C>T (p.Pro95Leu) http://identifiers.org/clinvar/30130 ^@ NM_005959.3(MTNR1B):c.923A>C (p.Tyr308Ser) http://identifiers.org/clinvar/30131 ^@ NC_000021.8:g.38874630_38927130del52501 http://identifiers.org/clinvar/30132 ^@ NM_004168.3(SDHA):c.1765C>T (p.Arg589Trp) http://identifiers.org/clinvar/30133 ^@ NM_053025.3(MYLK):c.5275T>C (p.Ser1759Pro) http://identifiers.org/clinvar/30134 ^@ NM_053025.3(MYLK):c.4438C>T (p.Arg1480Ter) http://identifiers.org/clinvar/30135 ^@ NM_000525.3(KCNJ11):c.179T>A (p.Phe60Tyr) http://identifiers.org/clinvar/30136 ^@ NM_001142784.2(IL11RA):c.886C>T (p.Arg296Trp) http://identifiers.org/clinvar/30137 ^@ NM_001142784.2(IL11RA):c.662C>G (p.Pro221Arg) http://identifiers.org/clinvar/30138 ^@ NM_001142784.2(IL11RA):c.734C>G (p.Ser245Cys) http://identifiers.org/clinvar/30139 ^@ NM_001142784.2(IL11RA):c.475C>T (p.Gln159Ter) http://identifiers.org/clinvar/30140 ^@ IL11RA, 9-BP DUP, NT916 http://identifiers.org/clinvar/30141 ^@ NM_001235.3(SERPINH1):c.233T>C (p.Leu78Pro) http://identifiers.org/clinvar/30142 ^@ NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) http://identifiers.org/clinvar/30143 ^@ NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) http://identifiers.org/clinvar/30144 ^@ MAP3K1, IVS2AS, T-A, -8 http://identifiers.org/clinvar/30145 ^@ MAP3K1, GLY616ARG http://identifiers.org/clinvar/30146 ^@ NM_005921.1(MAP3K1):c.566T>C (p.Leu189Pro) http://identifiers.org/clinvar/30147 ^@ NM_005921.1(MAP3K1):c.566T>G (p.Leu189Arg) http://identifiers.org/clinvar/30149 ^@ NM_005359.5(SMAD4):c.1499T>C (p.Ile500Thr) http://identifiers.org/clinvar/30150 ^@ NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) http://identifiers.org/clinvar/30151 ^@ NM_005359.5(SMAD4):c.1500A>G (p.Ile500Met) http://identifiers.org/clinvar/30152 ^@ NM_007126.3(VCP):c.475C>G (p.Arg159Gly) http://identifiers.org/clinvar/30153 ^@ NM_007126.3(VCP):c.1774G>A (p.Asp592Asn) http://identifiers.org/clinvar/30154 ^@ NM_005505.4(SCARB1):c.889C>T (p.Pro297Ser) http://identifiers.org/clinvar/30155 ^@ NM_001605.2(AARS):c.211A>T (p.Asn71Tyr) http://identifiers.org/clinvar/30156 ^@ NM_001453.2(FOXC1):c.889C>T (p.Pro297Ser) http://identifiers.org/clinvar/30157 ^@ NM_012186.2(FOXE3):c.959G>T (p.Ter320Leu) http://identifiers.org/clinvar/30158 ^@ NM_000304.3(PMP22):c.281delG (p.Gly94Alafs) http://identifiers.org/clinvar/30159 ^@ NM_001001557.3(GDF6):c.595G>A (p.Ala199Thr) http://identifiers.org/clinvar/30160 ^@ NM_000929.2(PLA2G5):c.133G>T (p.Gly45Cys) http://identifiers.org/clinvar/30161 ^@ PLA2G5, TRP62TER http://identifiers.org/clinvar/30162 ^@ NM_000929.2(PLA2G5):c.145G>A (p.Gly49Ser) http://identifiers.org/clinvar/30163 ^@ NM_000929.2(PLA2G5):c.157C>T (p.Arg53Ter) http://identifiers.org/clinvar/30164 ^@ PLA2G5, 1-BP DEL, 383A http://identifiers.org/clinvar/30165 ^@ NM_001184.3(ATR):c.6431A>G (p.Gln2144Arg) http://identifiers.org/clinvar/30166 ^@ NM_001244008.1(KIF1A):c.764C>T (p.Ala255Val) http://identifiers.org/clinvar/30167 ^@ KIF1A, 1-BP DEL, 2840T http://identifiers.org/clinvar/30168 ^@ KIF1A, 1-BP DUP, 5271C http://identifiers.org/clinvar/30169 ^@ NM_001244008.1(KIF1A):c.296C>T (p.Thr99Met) http://identifiers.org/clinvar/30170 ^@ NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) http://identifiers.org/clinvar/30171 ^@ NM_201378.3(PLEC):c.1_9delATGGCCGGC (p.Met1_Gly3del) http://identifiers.org/clinvar/30172 ^@ NM_201378.3(PLEC):c.11920dupG (p.Glu3974Glyfs) http://identifiers.org/clinvar/30173 ^@ NM_000445.4(PLEC):c.6169C>T (p.Gln2057Ter) http://identifiers.org/clinvar/30174 ^@ NM_000445.4(PLEC):c.6955C>T (p.Arg2319Ter) http://identifiers.org/clinvar/30175 ^@ NM_005592.3(MUSK):c.1031C>G (p.Pro344Arg) http://identifiers.org/clinvar/30176 ^@ NM_004963.3(GUCY2C):c.2519G>T (p.Ser840Ile) http://identifiers.org/clinvar/30177 ^@ NM_006765.3(TUSC3):c.163C>T (p.Gln55Ter) http://identifiers.org/clinvar/30178 ^@ NR_023343.1(RNU4ATAC):n.51G>A http://identifiers.org/clinvar/30179 ^@ NR_023343.1(RNU4ATAC):n.55G>A http://identifiers.org/clinvar/30180 ^@ NR_023343.1(RNU4ATAC):r.30G>A http://identifiers.org/clinvar/30181 ^@ NR_023343.1(RNU4ATAC):n.111G>A http://identifiers.org/clinvar/30182 ^@ NR_023343.1(RNU4ATAC):n.50G>C http://identifiers.org/clinvar/30183 ^@ NR_023343.1(RNU4ATAC):n.53C>G http://identifiers.org/clinvar/30184 ^@ NR_023343.1(RNU4ATAC):n.50G>A http://identifiers.org/clinvar/30185 ^@ NM_005691.3(ABCC9):c.4640C>T (p.Thr1547Ile) http://identifiers.org/clinvar/30186 ^@ SLCO2A1, IVS1AS, G-A, -1 http://identifiers.org/clinvar/30187 ^@ NM_005630.2(SLCO2A1):c.764G>A (p.Gly255Glu) http://identifiers.org/clinvar/30188 ^@ SLCO2A1, 1-BP DEL, 1634A http://identifiers.org/clinvar/30189 ^@ SLCO2A1, GLY222ARG http://identifiers.org/clinvar/30190 ^@ SLCO2A1, IVS7, G-A, +1 http://identifiers.org/clinvar/30191 ^@ NM_004998.3(MYO1E):c.475G>C (p.Ala159Pro) http://identifiers.org/clinvar/30192 ^@ MYO1E, TYR695TER http://identifiers.org/clinvar/30193 ^@ NM_013416.3(NCF4):c.143_152delAAGGAGGATC (p.Lys48Thrfs) http://identifiers.org/clinvar/30194 ^@ NM_013416.3(NCF4):c.314G>A (p.Arg105Gln) http://identifiers.org/clinvar/30195 ^@ NM_000287.3(PEX6):c.1601T>C (p.Leu534Pro) http://identifiers.org/clinvar/30196 ^@ NM_018206.5(VPS35):c.1858G>A (p.Asp620Asn) http://identifiers.org/clinvar/30197 ^@ NM_153427.2(PITX2):c.262A>G (p.Lys88Glu) http://identifiers.org/clinvar/30198 ^@ EZH2, 3-BP DEL, NT457 http://identifiers.org/clinvar/30199 ^@ NM_004456.4(EZH2):c.2080C>T (p.His694Tyr) http://identifiers.org/clinvar/30200 ^@ NM_004456.4(EZH2):c.394C>T (p.Pro132Ser) http://identifiers.org/clinvar/30201 ^@ NM_003073.4(SMARCB1):c.1091_1093delAGA (p.Lys364del) http://identifiers.org/clinvar/30202 ^@ NM_003073.4(SMARCB1):c.143C>T (p.Pro48Leu) http://identifiers.org/clinvar/30203 ^@ NM_003073.4(SMARCB1):c.1130G>A (p.Arg377His) http://identifiers.org/clinvar/30204 ^@ UBE3A, 15-BP DEL/7-BP INS, NT3240 http://identifiers.org/clinvar/30205 ^@ NM_000261.1(MYOC):c.1430T>A (p.Ile477Asn) http://identifiers.org/clinvar/30206 ^@ GATA6, 2-BP DEL, 1456GA http://identifiers.org/clinvar/30207 ^@ NM_005257.5(GATA6):c.1396A>C (p.Asn466His) http://identifiers.org/clinvar/30208 ^@ NM_005257.5(GATA6):c.592C>G (p.Leu198Val) http://identifiers.org/clinvar/30209 ^@ NM_005257.5(GATA6):c.533C>T (p.Ala178Val) http://identifiers.org/clinvar/30210 ^@ NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) http://identifiers.org/clinvar/30211 ^@ NM_005257.5(GATA6):c.1354A>G (p.Thr452Ala) http://identifiers.org/clinvar/30212 ^@ NM_005257.5(GATA6):c.1448_1455delTGAAAAAA (p.Met483Argfs) http://identifiers.org/clinvar/30213 ^@ NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys) http://identifiers.org/clinvar/30214 ^@ NM_005257.5(GATA6):c.1367G>A (p.Arg456His) http://identifiers.org/clinvar/30215 ^@ NM_005257.5(GATA6):c.1396A>G (p.Asn466Asp) http://identifiers.org/clinvar/30216 ^@ NM_005257.5(GATA6):c.1399G>A (p.Ala467Thr) http://identifiers.org/clinvar/30217 ^@ ABCA4, TRP821ARG http://identifiers.org/clinvar/30218 ^@ NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) http://identifiers.org/clinvar/30219 ^@ NM_006949.3(STXBP2):c.1621G>A (p.Gly541Ser) http://identifiers.org/clinvar/30220 ^@ NM_003999.2(OSMR):c.1940A>T (p.Asp647Val) http://identifiers.org/clinvar/30221 ^@ NM_003999.2(OSMR):c.2081C>T (p.Pro694Leu) http://identifiers.org/clinvar/30222 ^@ NM_003999.2(OSMR):c.2090A>C (p.Lys697Thr) http://identifiers.org/clinvar/30223 ^@ CYP1B1, PHE261LEU http://identifiers.org/clinvar/30224 ^@ NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) http://identifiers.org/clinvar/30225 ^@ NM_000303.2(PMM2):c.317A>T (p.Tyr106Phe) http://identifiers.org/clinvar/30226 ^@ PEX13, 147-KB DEL http://identifiers.org/clinvar/30227 ^@ PEX13, 14-BP DEL, EXON 2 http://identifiers.org/clinvar/30228 ^@ NM_000414.3(HSD17B4):c.650A>G (p.Tyr217Cys) http://identifiers.org/clinvar/30229 ^@ HSD17B4, TYR568TER http://identifiers.org/clinvar/30230 ^@ NM_004153.3(ORC1):c.380A>G (p.Glu127Gly) http://identifiers.org/clinvar/30231 ^@ NM_004153.3(ORC1):c.266T>C (p.Phe89Ser) http://identifiers.org/clinvar/30232 ^@ NM_004153.3(ORC1):c.314G>A (p.Arg105Gln) http://identifiers.org/clinvar/30233 ^@ NM_004153.3(ORC1):c.2159G>A (p.Arg720Gln) http://identifiers.org/clinvar/30234 ^@ ORC1, 2-BP DEL/1-BP INS, NT2000 http://identifiers.org/clinvar/30235 ^@ ORC1, IVS9, G-A, -2 http://identifiers.org/clinvar/30236 ^@ NM_004153.3(ORC1):c.1996C>T (p.Arg666Trp) http://identifiers.org/clinvar/30237 ^@ WNT10B, 4-BP DUP, 458AGCA http://identifiers.org/clinvar/30238 ^@ NM_005866.3(SIGMAR1):c.304G>C (p.Glu102Gln) http://identifiers.org/clinvar/30239 ^@ NM_006225.3(PLCD1):c.1246C>T (p.Arg416Ter) http://identifiers.org/clinvar/30240 ^@ PLCD1, 10-BP DEL, NT1792 http://identifiers.org/clinvar/30241 ^@ NM_006225.3(PLCD1):c.1657G>A (p.Ala553Thr) http://identifiers.org/clinvar/30242 ^@ NM_006225.3(PLCD1):c.562T>C (p.Cys188Arg) http://identifiers.org/clinvar/30243 ^@ NM_003384.2(VRK1):c.397C>T (p.Arg133Cys) http://identifiers.org/clinvar/30244 ^@ NM_002775.4(HTRA1):c.883G>A (p.Gly295Arg) http://identifiers.org/clinvar/30245 ^@ NM_005216.4(DDOST):c.1265_1286del22 (p.Ile422Thrfs) http://identifiers.org/clinvar/30246 ^@ NM_005216.4(DDOST):c.650G>A (p.Gly217Asp) http://identifiers.org/clinvar/30247 ^@ NM_021252.4(RAB18):c.71T>A (p.Leu24Gln) http://identifiers.org/clinvar/30248 ^@ RAB18, EX2DEL http://identifiers.org/clinvar/30249 ^@ NM_021252.4(RAB18):c.277_279delAGA (p.Arg93del) http://identifiers.org/clinvar/30250 ^@ NM_021252.4(RAB18):c.619T>C (p.Ter207Gln) http://identifiers.org/clinvar/30251 ^@ NM_002241.4(KCNJ10):c.193C>T (p.Arg65Cys) http://identifiers.org/clinvar/30252 ^@ KCNJ10, PHE75LEU http://identifiers.org/clinvar/30253 ^@ KCNJ10, 1-BP DEL, 775G http://identifiers.org/clinvar/30254 ^@ NM_006941.3(SOX10):c.743_744delAG (p.Glu248Alafs) http://identifiers.org/clinvar/30255 ^@ NM_006941.3(SOX10):c.113delG (p.Gly38Alafs) http://identifiers.org/clinvar/30256 ^@ DNASE1L3, 1-BP DEL, 643T http://identifiers.org/clinvar/30257 ^@ NM_005506.3(SCARB2):c.1114-2A>C http://identifiers.org/clinvar/30258 ^@ NM_005506.3(SCARB2):c.1258delG (p.Glu420Argfs) http://identifiers.org/clinvar/30259 ^@ NM_005506.3(SCARB2):c.1187+2dupT http://identifiers.org/clinvar/30260 ^@ NM_003322.5(TULP1):c.1204G>T (p.Glu402Ter) http://identifiers.org/clinvar/30261 ^@ NM_003322.5(TULP1):c.1198C>T (p.Arg400Trp) http://identifiers.org/clinvar/30262 ^@ NM_003322.5(TULP1):c.1102G>T (p.Gly368Trp) http://identifiers.org/clinvar/30263 ^@ TULP1, 6-BP DUP, NT1593 http://identifiers.org/clinvar/30264 ^@ NM_004722.3(AP4M1):c.577G>A (p.Glu193Lys) http://identifiers.org/clinvar/30265 ^@ NR_001566.1(TERC):n.54_57delAACT http://identifiers.org/clinvar/30266 ^@ WIPF1, SER434TER http://identifiers.org/clinvar/30267 ^@ NM_003824.3(FADD):c.315T>G (p.Cys105Trp) http://identifiers.org/clinvar/30268 ^@ NM_006009.3(TUBA1A):c.13A>C (p.Ile5Leu) http://identifiers.org/clinvar/30269 ^@ NM_001264.4(CDSN):c.175A>T (p.Lys59Ter) http://identifiers.org/clinvar/30270 ^@ NM_002408.3(MGAT2):c.711G>C (p.Lys237Asn) http://identifiers.org/clinvar/30271 ^@ NM_001254.3(CDC6):c.968C>G (p.Thr323Arg) http://identifiers.org/clinvar/30272 ^@ NM_001197181.1(TUBB3):c.751A>G (p.Met251Val) http://identifiers.org/clinvar/30274 ^@ NM_001197181.1(TUBB3):c.397G>A (p.Glu133Lys) http://identifiers.org/clinvar/30275 ^@ NM_001197181.1(TUBB3):c.689C>T (p.Ala230Val) http://identifiers.org/clinvar/30276 ^@ EP300, 1-BP DEL, 638G http://identifiers.org/clinvar/30277 ^@ ADGRV1, 1-BP DEL, 17137G http://identifiers.org/clinvar/30278 ^@ NM_001360.2(DHCR7):c.322_412del http://identifiers.org/clinvar/30279 ^@ BUB1B, IVS18AS, A-G, -11 http://identifiers.org/clinvar/30280 ^@ NM_001553.2(IGFBP7):c.830-1G>A http://identifiers.org/clinvar/30281 ^@ EPB41L1, PRO854SER http://identifiers.org/clinvar/30282 ^@ CACNG2, VAL143LEU http://identifiers.org/clinvar/30283 ^@ RAD51D, 1-BP DEL, 363A http://identifiers.org/clinvar/30284 ^@ RAD51D, TRP268TER http://identifiers.org/clinvar/30285 ^@ NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) http://identifiers.org/clinvar/30286 ^@ RAD51D, NT480, G-A, +1 http://identifiers.org/clinvar/30287 ^@ RAD51D, GLN115HIS http://identifiers.org/clinvar/30288 ^@ NM_002878.3(RAD51D):c.757C>T (p.Arg253Ter) http://identifiers.org/clinvar/30290 ^@ NM_005450.4(NOG):c.696C>G (p.Cys232Trp) http://identifiers.org/clinvar/30291 ^@ CUBN, IVS23, G-T, +1 http://identifiers.org/clinvar/30292 ^@ NM_006015.4(ARID1A):c.31_56del26 (p.Ser11Alafs) http://identifiers.org/clinvar/30293 ^@ NM_006015.4(ARID1A):c.2758C>T (p.Gln920Ter) http://identifiers.org/clinvar/30294 ^@ NM_006015.4(ARID1A):c.4003C>T (p.Arg1335Ter) http://identifiers.org/clinvar/30295 ^@ NM_002552.4(ORC4):c.521A>G (p.Tyr174Cys) http://identifiers.org/clinvar/30296 ^@ NM_181742.3(ORC4):c.870_873dupAACA (p.Ala292Asnfs) http://identifiers.org/clinvar/30297 ^@ NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del http://identifiers.org/clinvar/30298 ^@ ZIC2, 7-BP DEL, NT392 http://identifiers.org/clinvar/30299 ^@ NM_004656.3(BAP1):c.1305delG (p.Gln436Asnfs) http://identifiers.org/clinvar/30300 ^@ NM_004656.3(BAP1):c.2057-2A>G http://identifiers.org/clinvar/30301 ^@ NM_004656.3(BAP1):c.438-2A>G http://identifiers.org/clinvar/30302 ^@ NM_004656.3(BAP1):c.2050C>T (p.Gln684Ter) http://identifiers.org/clinvar/30303 ^@ BAP1, 1-BP DEL, 1832C http://identifiers.org/clinvar/30304 ^@ BAP1, 4-BP DEL, 2008TCAC http://identifiers.org/clinvar/30305 ^@ NM_004656.3(BAP1):c.799C>T (p.Gln267Ter) http://identifiers.org/clinvar/30306 ^@ NM_005902.3(SMAD3):c.859C>T (p.Arg287Trp) http://identifiers.org/clinvar/30307 ^@ NM_005902.3(SMAD3):c.741_742delAT (p.Phe248Profs) http://identifiers.org/clinvar/30308 ^@ NM_005902.3(SMAD3):c.782C>T (p.Thr261Ile) http://identifiers.org/clinvar/30309 ^@ NM_005902.3(SMAD3):c.653delA (p.Asn218Thrfs) http://identifiers.org/clinvar/30310 ^@ NM_005902.3(SMAD3):c.836G>A (p.Arg279Lys) http://identifiers.org/clinvar/30311 ^@ NM_005902.3(SMAD3):c.715G>A (p.Glu239Lys) http://identifiers.org/clinvar/30312 ^@ NM_005902.3(SMAD3):c.335C>T (p.Ala112Val) http://identifiers.org/clinvar/30313 ^@ NM_005902.3(SMAD3):c.313delG (p.Ala105Profs) http://identifiers.org/clinvar/30314 ^@ NM_005902.3(SMAD3):c.788C>T (p.Pro263Leu) http://identifiers.org/clinvar/30315 ^@ NM_005902.3(SMAD3):c.1081G>T (p.Glu361Ter) http://identifiers.org/clinvar/30316 ^@ NM_003079.4(SMARCE1):c.218A>G (p.Tyr73Cys) http://identifiers.org/clinvar/30317 ^@ CUL3, IVS8, A-G, -26 http://identifiers.org/clinvar/30318 ^@ CUL3, IVS8, T-G, -28 http://identifiers.org/clinvar/30319 ^@ CUL3, IVS8, T-G, -12 http://identifiers.org/clinvar/30320 ^@ CUL3, IVS8, T-A, -5 http://identifiers.org/clinvar/30321 ^@ CUL3, IVS8, C-T, -3 http://identifiers.org/clinvar/30322 ^@ CUL3, IVS8, G-A, -1 http://identifiers.org/clinvar/30323 ^@ NM_003590.4(CUL3):c.1238A>G (p.Asp413Gly) http://identifiers.org/clinvar/30324 ^@ RTN2, 1-BP INS, 178C http://identifiers.org/clinvar/30325 ^@ RTN2, DEL http://identifiers.org/clinvar/30326 ^@ NM_005619.4(RTN2):c.1100C>T (p.Ser367Phe) http://identifiers.org/clinvar/30327 ^@ PTRF, 1-BP DEL, 135G http://identifiers.org/clinvar/30328 ^@ PTRF, 4-BP INS, 481GTGA http://identifiers.org/clinvar/30329 ^@ PTRF, 4-BP DEL, 518AAGA http://identifiers.org/clinvar/30330 ^@ PTRF, IVS1DS, G-T, +1 http://identifiers.org/clinvar/30331 ^@ NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter) http://identifiers.org/clinvar/30332 ^@ NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro) http://identifiers.org/clinvar/30333 ^@ NM_007317.2(KIF22):c.442C>T (p.Pro148Ser) http://identifiers.org/clinvar/30334 ^@ NM_007317.2(KIF22):c.443C>T (p.Pro148Leu) http://identifiers.org/clinvar/30335 ^@ NM_007317.2(KIF22):c.446G>A (p.Arg149Gln) http://identifiers.org/clinvar/30336 ^@ NM_007317.2(KIF22):c.446G>T (p.Arg149Leu) http://identifiers.org/clinvar/30337 ^@ NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) http://identifiers.org/clinvar/30338 ^@ NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys) http://identifiers.org/clinvar/30339 ^@ NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) http://identifiers.org/clinvar/30340 ^@ NM_001171.5(ABCC6):c.450dupC (p.Ala151Argfs) http://identifiers.org/clinvar/30342 ^@ NM_001128849.1(SMARCA4):c.1636_1638delAAG (p.Lys546del) http://identifiers.org/clinvar/30343 ^@ NM_003072.3(SMARCA4):c.2576C>T (p.Thr859Met) http://identifiers.org/clinvar/30344 ^@ NM_003072.3(SMARCA4):c.2653C>T (p.Arg885Cys) http://identifiers.org/clinvar/30345 ^@ NM_003072.3(SMARCA4):c.2761C>T (p.Leu921Phe) http://identifiers.org/clinvar/30346 ^@ NM_003072.3(SMARCA4):c.3032T>C (p.Met1011Thr) http://identifiers.org/clinvar/30347 ^@ NM_003072.3(SMARCA4):c.3469C>G (p.Arg1157Gly) http://identifiers.org/clinvar/30348 ^@ TP63, ARG227PRO http://identifiers.org/clinvar/30349 ^@ NM_002256.3(KISS1):c.339C>G (p.Asn113Lys) http://identifiers.org/clinvar/30350 ^@ NM_001080463.1(DYNC2H1):c.11747G>A (p.Gly3916Asp) http://identifiers.org/clinvar/30351 ^@ PEX16, 1-BP DEL, 984G http://identifiers.org/clinvar/30352 ^@ NM_004813.2(PEX16):c.992A>G (p.Tyr331Cys) http://identifiers.org/clinvar/30353 ^@ PEX16, DEL, EX11 http://identifiers.org/clinvar/30354 ^@ SLC22A5, -207G-C http://identifiers.org/clinvar/30355 ^@ NM_003506.3(FZD6):c.1750G>T (p.Glu584Ter) http://identifiers.org/clinvar/30356 ^@ NM_003506.3(FZD6):c.1531C>T (p.Arg511Cys) http://identifiers.org/clinvar/30357 ^@ NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) http://identifiers.org/clinvar/30358 ^@ NM_002977.3(SCN9A):c.1867G>A (p.Asp623Asn) http://identifiers.org/clinvar/94089 ^@ NM_002977.3(SCN9A):c.2794A>C (p.Met932Leu) http://identifiers.org/clinvar/94090 ^@ NM_002977.3(SCN9A):c.2971G>T (p.Val991Leu) http://identifiers.org/clinvar/30360 ^@ NM_003805.4(CRADD):c.382G>C (p.Gly128Arg) http://identifiers.org/clinvar/30361 ^@ NM_003921.4(BCL10):c.488C>T (p.Thr163Met) http://identifiers.org/clinvar/30362 ^@ NM_002420.5(TRPM1):c.1870C>T (p.Arg624Cys) http://identifiers.org/clinvar/30363 ^@ NM_002420.5(TRPM1):c.2645C>A (p.Ser882Ter) http://identifiers.org/clinvar/30364 ^@ NM_002420.5(TRPM1):c.1023+3_1023+6delAAGT http://identifiers.org/clinvar/30365 ^@ LARGE, 42.9-KB INS/4.1-KB DEL http://identifiers.org/clinvar/30366 ^@ NM_003560.2(PLA2G6):c.1904G>A (p.Arg635Gln) http://identifiers.org/clinvar/30367 ^@ NM_003560.2(PLA2G6):c.1354C>T (p.Gln452Ter) http://identifiers.org/clinvar/30368 ^@ PLA2G6, PHE72LEU http://identifiers.org/clinvar/30369 ^@ NG_007094.2:g.(69605_69653)_(76237_76285)del http://identifiers.org/clinvar/30370 ^@ NM_003560.2(PLA2G6):c.109C>T (p.Arg37Ter) http://identifiers.org/clinvar/30371 ^@ NM_003560.2(PLA2G6):c.991G>T (p.Asp331Tyr) http://identifiers.org/clinvar/30372 ^@ NM_001142415.1(AIMP1):c.292_293delCA (p.Gln98Valfs) http://identifiers.org/clinvar/30373 ^@ SLC24A1, 2-BP DEL, EXON 2 http://identifiers.org/clinvar/30374 ^@ NM_003183.5(ADAM17):c.603_606delCAGA (p.Asp201Glufs) http://identifiers.org/clinvar/30375 ^@ NM_004733.3(SLC33A1):c.328G>C (p.Ala110Pro) http://identifiers.org/clinvar/30376 ^@ SLC33A1, IVS5AS, G-A, -1 http://identifiers.org/clinvar/30377 ^@ SLC33A1, TYR366TER http://identifiers.org/clinvar/30378 ^@ NM_004733.3(SLC33A1):c.614dupT (p.Leu205Phefs) http://identifiers.org/clinvar/30379 ^@ SLC33A1, 18-BP DEL, NT1474 http://identifiers.org/clinvar/30380 ^@ NM_005413.3(SIX3):c.385G>T (p.Glu129Ter) http://identifiers.org/clinvar/30381 ^@ NM_005413.3(SIX3):c.109G>T (p.Gly37Cys) http://identifiers.org/clinvar/30382 ^@ NM_005413.3(SIX3):c.499G>T (p.Ala167Ser) http://identifiers.org/clinvar/30383 ^@ NM_004827.2(ABCG2):c.736C>T (p.Arg246Ter) http://identifiers.org/clinvar/30384 ^@ NM_004827.2(ABCG2):c.1111_1112delAC (p.Thr371Leufs) http://identifiers.org/clinvar/30385 ^@ NM_004827.2(ABCG2):c.376C>T (p.Gln126Ter) http://identifiers.org/clinvar/30386 ^@ NM_004827.2(ABCG2):c.34G>A (p.Val12Met) http://identifiers.org/clinvar/30387 ^@ NM_004827.2(ABCG2):c.706C>T (p.Arg236Ter) http://identifiers.org/clinvar/30388 ^@ NM_004827.2(ABCG2):c.791_792delTT (p.Leu264Hisfs) http://identifiers.org/clinvar/30389 ^@ NM_004827.2(ABCG2):c.421C>A (p.Gln141Lys) http://identifiers.org/clinvar/30390 ^@ NM_003860.3(BANF1):c.34G>A (p.Ala12Thr) http://identifiers.org/clinvar/30391 ^@ NM_005002.4(NDUFA9):c.962G>C (p.Arg321Pro) http://identifiers.org/clinvar/30392 ^@ NM_004544.3(NDUFA10):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/30393 ^@ NM_004544.3(NDUFA10):c.425A>G (p.Gln142Arg) http://identifiers.org/clinvar/30394 ^@ NDUFB3, TRP22ARG http://identifiers.org/clinvar/30395 ^@ BAG3, EX4DEL http://identifiers.org/clinvar/30396 ^@ NM_004281.3(BAG3):c.211C>T (p.Arg71Trp) http://identifiers.org/clinvar/30397 ^@ NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) http://identifiers.org/clinvar/30398 ^@ BAG3, 1-BP DEL, 652C http://identifiers.org/clinvar/30399 ^@ NM_004281.3(BAG3):c.1430G>A (p.Arg477His) http://identifiers.org/clinvar/30400 ^@ NM_004247.3(EFTUD2):c.784C>T (p.Arg262Trp) http://identifiers.org/clinvar/30401 ^@ NM_004247.3(EFTUD2):c.2770C>T (p.Gln924Ter) http://identifiers.org/clinvar/30402 ^@ NM_004247.3(EFTUD2):c.1759_1760delGT (p.Val587Tyrfs) http://identifiers.org/clinvar/30403 ^@ NM_004247.3(EFTUD2):c.2493C>A (p.Tyr831Ter) http://identifiers.org/clinvar/30404 ^@ NM_004247.3(EFTUD2):c.1910T>G (p.Leu637Arg) http://identifiers.org/clinvar/30405 ^@ NM_006580.3(CLDN16):c.823A>T (p.Lys275Ter) http://identifiers.org/clinvar/30406 ^@ NM_004287.4(GOSR2):c.430G>T (p.Gly144Trp) http://identifiers.org/clinvar/30407 ^@ NM_006790.2(MYOT):c.17G>A (p.Arg6His) http://identifiers.org/clinvar/30408 ^@ NM_002894.2(RBBP8):c.2287+53T>G http://identifiers.org/clinvar/30409 ^@ NM_002894.2(RBBP8):c.1808_1809delTA (p.Ile603Lysfs) http://identifiers.org/clinvar/30410 ^@ NM_002334.3(LRP4):c.3557G>C (p.Trp1186Ser) http://identifiers.org/clinvar/30411 ^@ NM_002334.3(LRP4):c.3508C>T (p.Arg1170Trp) http://identifiers.org/clinvar/30412 ^@ NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) http://identifiers.org/clinvar/30413 ^@ NM_016219.4(MAN1B1):c.1189G>A (p.Glu397Lys) http://identifiers.org/clinvar/30414 ^@ MAN1B1, TRP473TER http://identifiers.org/clinvar/30415 ^@ NM_016219.4(MAN1B1):c.1000C>T (p.Arg334Cys) http://identifiers.org/clinvar/30416 ^@ LAMC3, 2-BP DEL, TG http://identifiers.org/clinvar/30417 ^@ LAMC3, TRP157TER http://identifiers.org/clinvar/30418 ^@ NM_006059.3(LAMC3):c.1156C>T (p.Gln386Ter) http://identifiers.org/clinvar/30419 ^@ LAMC3, GLY350ARG http://identifiers.org/clinvar/30420 ^@ NM_013339.3(ALG6):c.897_899delAAT (p.Ile299del) http://identifiers.org/clinvar/30421 ^@ ALG6, IVS7DS, T-G, +2 http://identifiers.org/clinvar/30422 ^@ NM_013339.3(ALG6):c.391T>C (p.Tyr131His) http://identifiers.org/clinvar/30423 ^@ NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val) http://identifiers.org/clinvar/30424 ^@ NM_006796.2(AFG3L2):c.1997T>G (p.Met666Arg) http://identifiers.org/clinvar/30425 ^@ NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg) http://identifiers.org/clinvar/30427 ^@ NM_006796.2(AFG3L2):c.1847A>G (p.Tyr616Cys) http://identifiers.org/clinvar/30428 ^@ NM_001199397.1(NEK1):c.379C>T (p.Arg127Ter) http://identifiers.org/clinvar/30429 ^@ NM_001199397.1(NEK1):c.869-2A>G http://identifiers.org/clinvar/30430 ^@ NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs) http://identifiers.org/clinvar/30432 ^@ NM_015713.4(RRM2B):c.950delT (p.Leu317Terfs) http://identifiers.org/clinvar/30433 ^@ NM_015713.4(RRM2B):c.965dupA (p.Asn322Lysfs) http://identifiers.org/clinvar/30434 ^@ NM_015713.4(RRM2B):c.606T>A (p.Phe202Leu) http://identifiers.org/clinvar/30435 ^@ NM_015713.4(RRM2B):c.817G>A (p.Gly273Ser) http://identifiers.org/clinvar/30436 ^@ NM_015713.4(RRM2B):c.97C>T (p.Pro33Ser) http://identifiers.org/clinvar/30437 ^@ NM_006446.4(SLCO1B1):c.1738C>T (p.Arg580Ter) http://identifiers.org/clinvar/30438 ^@ SLCO1B1, IVS5DS, G-T, +1 http://identifiers.org/clinvar/30439 ^@ NM_006446.4(SLCO1B1):c.757C>T (p.Arg253Ter) http://identifiers.org/clinvar/30440 ^@ NM_005135.2(SLC12A6):c.3247C>T (p.Arg1083Ter) http://identifiers.org/clinvar/30441 ^@ NM_001128425.1(MUTYH):c.348+33_*210delinsTA http://identifiers.org/clinvar/30442 ^@ NM_015979.3(MED23):c.1850G>A (p.Arg617Gln) http://identifiers.org/clinvar/30444 ^@ NM_005475.2(SH2B3):c.603_607delGCGCT (p.Arg202Glnfs) http://identifiers.org/clinvar/30445 ^@ NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) http://identifiers.org/clinvar/30446 ^@ NM_005475.2(SH2B3):c.622G>T (p.Glu208Ter) http://identifiers.org/clinvar/30447 ^@ NM_019885.3(CYP26B1):c.1088G>T (p.Arg363Leu) http://identifiers.org/clinvar/30448 ^@ NM_019885.3(CYP26B1):c.436T>C (p.Ser146Pro) http://identifiers.org/clinvar/30449 ^@ NM_019887.5(DIABLO):c.377C>T (p.Ser126Leu) http://identifiers.org/clinvar/30450 ^@ NM_006587.3(CORIN):c.949A>G (p.Lys317Glu) http://identifiers.org/clinvar/30451 ^@ NM_006587.3(CORIN):c.1414A>G (p.Ser472Gly) http://identifiers.org/clinvar/30452 ^@ NCSTN, 1-BP DEL, 1752G http://identifiers.org/clinvar/30453 ^@ NCSTN, IVS13, G-A, +1 http://identifiers.org/clinvar/30454 ^@ NM_015331.2(NCSTN):c.349C>T (p.Arg117Ter) http://identifiers.org/clinvar/30455 ^@ JPH2, SER101ARG http://identifiers.org/clinvar/30456 ^@ NM_020433.4(JPH2):c.421T>C (p.Tyr141His) http://identifiers.org/clinvar/30457 ^@ NM_020433.4(JPH2):c.494C>T (p.Ser165Phe) http://identifiers.org/clinvar/30458 ^@ NM_020433.4(JPH2):c.1513G>A (p.Gly505Ser) http://identifiers.org/clinvar/30459 ^@ NM_000199.3(SGSH):c.892T>C (p.Ser298Pro) http://identifiers.org/clinvar/30460 ^@ NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) http://identifiers.org/clinvar/30461 ^@ NM_130837.2(OPA1):c.1800C>G (p.Ser600Arg) http://identifiers.org/clinvar/30462 ^@ NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) http://identifiers.org/clinvar/30463 ^@ NM_015560.2(OPA1):c.2729T>A (p.Val910Asp) http://identifiers.org/clinvar/30464 ^@ NM_005105.4(RBM8A):c.-21G>A http://identifiers.org/clinvar/30465 ^@ NM_005105.4(RBM8A):c.67+32G>C http://identifiers.org/clinvar/30466 ^@ NM_005105.4(RBM8A):c.207_208insAGCG (p.Val70Serfs) http://identifiers.org/clinvar/30467 ^@ NM_005105.4(RBM8A):c.487C>T (p.Arg163Ter) http://identifiers.org/clinvar/30468 ^@ NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys) http://identifiers.org/clinvar/30469 ^@ NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) http://identifiers.org/clinvar/30470 ^@ NM_021625.4(TRPV4):c.266C>T (p.Thr89Ile) http://identifiers.org/clinvar/30471 ^@ NM_021625.4(TRPV4):c.590A>G (p.Lys197Arg) http://identifiers.org/clinvar/30472 ^@ NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) http://identifiers.org/clinvar/30473 ^@ NM_021625.4(TRPV4):c.947G>A (p.Arg316His) http://identifiers.org/clinvar/30474 ^@ NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp) http://identifiers.org/clinvar/30475 ^@ NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile) http://identifiers.org/clinvar/30476 ^@ NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu) http://identifiers.org/clinvar/30477 ^@ ABCB6, GLN239TER http://identifiers.org/clinvar/30478 ^@ NM_005689.2(ABCB6):c.1690_1691delAT (p.Met564Valfs) http://identifiers.org/clinvar/30479 ^@ NM_005689.2(ABCB6):c.1942C>T (p.Arg648Ter) http://identifiers.org/clinvar/30480 ^@ NM_005689.2(ABCB6):c.1985_1986delTC (p.Leu662Profs) http://identifiers.org/clinvar/30481 ^@ ABCB6, IVS16DS, T-G, +2 http://identifiers.org/clinvar/30482 ^@ NM_005689.2(ABCB6):c.2431C>G (p.Leu811Val) http://identifiers.org/clinvar/30483 ^@ NM_005689.2(ABCB6):c.169G>A (p.Ala57Thr) http://identifiers.org/clinvar/30484 ^@ NM_022436.2(ABCG5):c.46C>T (p.Gln16Ter) http://identifiers.org/clinvar/30485 ^@ NM_022436.2(ABCG5):c.1336C>T (p.Arg446Ter) http://identifiers.org/clinvar/30486 ^@ NM_014339.6(IL17RA):c.850C>T (p.Gln284Ter) http://identifiers.org/clinvar/30487 ^@ SLCO1B3, 7.2-KB DEL http://identifiers.org/clinvar/30488 ^@ SLCO1B3, ARG253TER http://identifiers.org/clinvar/30489 ^@ NM_173170.1(IL36RN):c.80T>C (p.Leu27Pro) http://identifiers.org/clinvar/30490 ^@ NM_173170.1(IL36RN):c.338C>T (p.Ser113Leu) http://identifiers.org/clinvar/30491 ^@ NM_173170.1(IL36RN):c.142C>T (p.Arg48Trp) http://identifiers.org/clinvar/30492 ^@ TMPRSS3, 1-BP DEL, 207C http://identifiers.org/clinvar/30493 ^@ NM_024022.2(TMPRSS3):c.308A>G (p.Asp103Gly) http://identifiers.org/clinvar/30494 ^@ NM_022726.3(ELOVL4):c.646C>T (p.Arg216Ter) http://identifiers.org/clinvar/30495 ^@ ELOVL4, 1-BP DEL, 690T http://identifiers.org/clinvar/30496 ^@ NM_022458.3(LMBR1):c.423+4810G>A http://identifiers.org/clinvar/30497 ^@ NM_022458.3(LMBR1):c.423+4847T>G http://identifiers.org/clinvar/30498 ^@ NM_030928.3(CDT1):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/30499 ^@ CDT1, TYR520TER http://identifiers.org/clinvar/30500 ^@ CDT1, IVS2DS, G-C, +1 http://identifiers.org/clinvar/30501 ^@ NM_030928.3(CDT1):c.196G>A (p.Ala66Thr) http://identifiers.org/clinvar/30502 ^@ NM_030928.3(CDT1):c.1402G>A (p.Glu468Lys) http://identifiers.org/clinvar/30503 ^@ GP6, ARG38CYS http://identifiers.org/clinvar/30504 ^@ GP6, 5-BP DUP, 356AGCCC http://identifiers.org/clinvar/30505 ^@ NM_016363.5(GP6):c.524G>A (p.Ser175Asn) http://identifiers.org/clinvar/30506 ^@ GP6, 16-BP DEL http://identifiers.org/clinvar/30507 ^@ NM_023067.3(FOXL2):c.205G>A (p.Glu69Lys) http://identifiers.org/clinvar/30508 ^@ NM_016599.4(MYOZ2):c.142T>C (p.Ser48Pro) http://identifiers.org/clinvar/30509 ^@ NM_016599.4(MYOZ2):c.738A>G (p.Ile246Met) http://identifiers.org/clinvar/30510 ^@ NM_004738.4(VAPB):c.137C>T (p.Thr46Ile) http://identifiers.org/clinvar/30511 ^@ NM_020639.2(RIPK4):c.1127C>A (p.Ser376Ter) http://identifiers.org/clinvar/30512 ^@ NM_020639.2(RIPK4):c.242T>A (p.Ile81Asn) http://identifiers.org/clinvar/30513 ^@ NM_020639.2(RIPK4):c.362T>A (p.Ile121Asn) http://identifiers.org/clinvar/30514 ^@ RIPK4, 1-BP INS, 777A http://identifiers.org/clinvar/30515 ^@ KLHL3, TRP470TER http://identifiers.org/clinvar/30516 ^@ NM_017415.2(KLHL3):c.965T>G (p.Phe322Cys) http://identifiers.org/clinvar/30517 ^@ NM_017415.2(KLHL3):c.1229C>T (p.Ser410Leu) http://identifiers.org/clinvar/30518 ^@ NM_017415.2(KLHL3):c.1583G>A (p.Arg528His) http://identifiers.org/clinvar/30519 ^@ NM_017415.2(KLHL3):c.718C>T (p.Arg240Ter) http://identifiers.org/clinvar/30520 ^@ NM_017415.2(KLHL3):c.1007G>T (p.Arg336Ile) http://identifiers.org/clinvar/30521 ^@ NM_017415.2(KLHL3):c.1670A>G (p.Tyr557Cys) http://identifiers.org/clinvar/30522 ^@ NM_017415.2(KLHL3):c.1582C>T (p.Arg528Cys) http://identifiers.org/clinvar/30523 ^@ NM_017415.2(KLHL3):c.1298G>A (p.Ser433Asn) http://identifiers.org/clinvar/30524 ^@ NM_020191.2(MRPS22):c.644T>C (p.Leu215Pro) http://identifiers.org/clinvar/30525 ^@ NM_012330.3(KAT6B):c.4405dupT (p.Ser1469Phefs) http://identifiers.org/clinvar/30526 ^@ NM_012330.3(KAT6B):c.5370_5373dup (p.Ile1792Glnfs) http://identifiers.org/clinvar/30527 ^@ NM_012330.3(KAT6B):c.3018delA (p.Glu1007Argfs) http://identifiers.org/clinvar/30528 ^@ NM_012330.3(KAT6B):c.4069G>T (p.Glu1357Ter) http://identifiers.org/clinvar/30530 ^@ NM_012330.3(KAT6B):c.3769_3772delTCTA (p.Lys1258Glyfs) http://identifiers.org/clinvar/30532 ^@ NM_012330.3(KAT6B):c.3892G>T (p.Gly1298Ter) http://identifiers.org/clinvar/30533 ^@ NM_012330.3(KAT6B):c.3802G>T (p.Gly1268Ter) http://identifiers.org/clinvar/30535 ^@ NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) http://identifiers.org/clinvar/30536 ^@ NM_019109.4(ALG1):c.1129A>G (p.Met377Val) http://identifiers.org/clinvar/30537 ^@ NM_019109.4(ALG1):c.434G>A (p.Gly145Asp) http://identifiers.org/clinvar/30538 ^@ NM_019109.4(ALG1):c.1188T>A (p.Cys396Ter) http://identifiers.org/clinvar/30539 ^@ NM_019109.4(ALG1):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/30540 ^@ NM_003156.3(STIM1):c.970-1G>A http://identifiers.org/clinvar/30541 ^@ PCNT, GLN1280HIS http://identifiers.org/clinvar/30542 ^@ PCNT, 3-BP DEL, 9460AAG http://identifiers.org/clinvar/30543 ^@ NM_006031.5(PCNT):c.3460G>T (p.Glu1154Ter) http://identifiers.org/clinvar/30544 ^@ NM_004278.3(PIGL):c.500T>C (p.Leu167Pro) http://identifiers.org/clinvar/30545 ^@ PIGL, 1-BP DEL, 274C http://identifiers.org/clinvar/30546 ^@ NM_004278.3(PIGL):c.652C>T (p.Gln218Ter) http://identifiers.org/clinvar/30547 ^@ PIGL, IVS3AS, G-A, -1 http://identifiers.org/clinvar/30549 ^@ NM_176787.4(PIGN):c.2126G>A (p.Arg709Gln) http://identifiers.org/clinvar/30550 ^@ NM_031885.3(BBS2):c.472-2A>G http://identifiers.org/clinvar/30551 ^@ NM_006886.3(ATP5E):c.35A>G (p.Tyr12Cys) http://identifiers.org/clinvar/30552 ^@ NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) http://identifiers.org/clinvar/30553 ^@ WFS1, 8-BP DEL, NT2106 http://identifiers.org/clinvar/30554 ^@ WFS1, ARG228GLN http://identifiers.org/clinvar/30555 ^@ WFS1, LYS836ASN http://identifiers.org/clinvar/30556 ^@ NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) http://identifiers.org/clinvar/30557 ^@ WFS1, 3-BP DEL, VAL415DEL http://identifiers.org/clinvar/30558 ^@ WFS1, 4-BP DEL, 1387CTCT http://identifiers.org/clinvar/30559 ^@ NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) http://identifiers.org/clinvar/30560 ^@ NM_033517.1(SHANK3):c.3349C>T (p.Arg1117Ter) http://identifiers.org/clinvar/30561 ^@ NM_033517.1(SHANK3):c.1606C>T (p.Arg536Trp) http://identifiers.org/clinvar/30562 ^@ DICER1, SER1826TER http://identifiers.org/clinvar/30563 ^@ DICER1, 4-BP DEL, 871AAAG http://identifiers.org/clinvar/30564 ^@ DICER1, IVS17AS, G-T, -1 http://identifiers.org/clinvar/30565 ^@ DICER1, 2457C-G http://identifiers.org/clinvar/30566 ^@ NM_177438.2(DICER1):c.2516C>T (p.Ser839Phe) http://identifiers.org/clinvar/30567 ^@ NM_025216.2(WNT10A):c.649G>A (p.Asp217Asn) http://identifiers.org/clinvar/30568 ^@ NM_022445.3(TPK1):c.148A>C (p.Asn50His) http://identifiers.org/clinvar/30569 ^@ TPK1, IVS7DS, A-T, +4 http://identifiers.org/clinvar/30570 ^@ NM_022445.3(TPK1):c.119T>C (p.Leu40Pro) http://identifiers.org/clinvar/30571 ^@ TPK1, 4-BP DEL, 179GAGA http://identifiers.org/clinvar/30572 ^@ NM_022445.3(TPK1):c.656A>G (p.Asn219Ser) http://identifiers.org/clinvar/30573 ^@ NM_012200.3(B3GAT3):c.830G>A (p.Arg277Gln) http://identifiers.org/clinvar/30574 ^@ CLRN1, LEU154TRP http://identifiers.org/clinvar/30575 ^@ NM_001195794.1(CLRN1):c.92C>T (p.Pro31Leu) http://identifiers.org/clinvar/30576 ^@ NM_014762.3(DHCR24):c.307C>T (p.Arg103Cys) http://identifiers.org/clinvar/30577 ^@ NM_014762.3(DHCR24):c.281G>A (p.Arg94His) http://identifiers.org/clinvar/30578 ^@ NM_014762.3(DHCR24):c.1438G>A (p.Glu480Lys) http://identifiers.org/clinvar/30579 ^@ ATL1, ASN355LYS http://identifiers.org/clinvar/30580 ^@ NM_015915.4(ATL1):c.196G>C (p.Glu66Gln) http://identifiers.org/clinvar/30581 ^@ ATL1, 1-BP DEL, 976G http://identifiers.org/clinvar/30582 ^@ NM_001127713.1(ATL1):c.1246C>T (p.Arg416Cys) http://identifiers.org/clinvar/30583 ^@ NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala) http://identifiers.org/clinvar/30584 ^@ NM_005857.4(ZMPSTE24):c.54dupT (p.Ile19Tyrfs) http://identifiers.org/clinvar/30585 ^@ NM_005857.4(ZMPSTE24):c.591dupT (p.Ile198Tyrfs) http://identifiers.org/clinvar/30586 ^@ NM_005857.4(ZMPSTE24):c.1349G>A (p.Trp450Ter) http://identifiers.org/clinvar/30587 ^@ NM_174963.3(ST3GAL3):c.38C>A (p.Ala13Asp) http://identifiers.org/clinvar/30588 ^@ ST3GAL3, ASP370TYR http://identifiers.org/clinvar/30589 ^@ NM_052872.3(IL17F):c.284C>T (p.Ser95Leu) http://identifiers.org/clinvar/30590 ^@ NM_021734.4(SLC25A19):c.373G>A (p.Gly125Ser) http://identifiers.org/clinvar/30591 ^@ NM_020634.2(GDF3):c.796C>T (p.Arg266Cys) http://identifiers.org/clinvar/30592 ^@ NM_020634.2(GDF3):c.914T>C (p.Leu305Pro) http://identifiers.org/clinvar/30593 ^@ NM_020634.2(GDF3):c.584G>A (p.Arg195Gln) http://identifiers.org/clinvar/30594 ^@ NM_020634.2(GDF3):c.820C>T (p.Arg274Trp) http://identifiers.org/clinvar/30595 ^@ NM_181457.3(PAX3):c.238C>G (p.His80Asp) http://identifiers.org/clinvar/30596 ^@ PAX3, 1-BP DEL, 556C http://identifiers.org/clinvar/30597 ^@ SP7, 1-BP DEL, 1052A http://identifiers.org/clinvar/30598 ^@ NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) http://identifiers.org/clinvar/30599 ^@ NM_017882.2(CLN6):c.200T>C (p.Leu67Pro) http://identifiers.org/clinvar/30600 ^@ NM_017882.2(CLN6):c.308G>A (p.Arg103Gln) http://identifiers.org/clinvar/30601 ^@ NM_017882.2(CLN6):c.139C>T (p.Leu47Phe) http://identifiers.org/clinvar/30602 ^@ NM_017882.2(CLN6):c.17G>C (p.Arg6Thr) http://identifiers.org/clinvar/30603 ^@ NC_000020.11:g.36948745_36957728del http://identifiers.org/clinvar/30604 ^@ NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys) http://identifiers.org/clinvar/30605 ^@ NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) http://identifiers.org/clinvar/30606 ^@ NM_000520.5(HEXA):c.173G>A (p.Cys58Tyr) http://identifiers.org/clinvar/30607 ^@ JAM3, IVS5DS, G-T, +1 http://identifiers.org/clinvar/30609 ^@ NM_016123.3(IRAK4):c.34C>T (p.Arg12Cys) http://identifiers.org/clinvar/30610 ^@ IRAK4, IVS7DS, G-T, +5 http://identifiers.org/clinvar/30611 ^@ NM_000017.3(ACADS):c.164C>T (p.Pro55Leu) http://identifiers.org/clinvar/30612 ^@ NM_000017.3(ACADS):c.1031A>G (p.Glu344Gly) http://identifiers.org/clinvar/30613 ^@ NM_000017.3(ACADS):c.323G>A (p.Gly108Asp) http://identifiers.org/clinvar/30614 ^@ NM_000153.3(GALC):c.1630G>A (p.Asp544Asn) http://identifiers.org/clinvar/30615 ^@ NM_000153.3(GALC):c.1796T>G (p.Ile599Ser) http://identifiers.org/clinvar/30616 ^@ GALC, GLY553ARG http://identifiers.org/clinvar/30617 ^@ GALC, IVS13DS, G-A, +1 http://identifiers.org/clinvar/30618 ^@ GALC, 1-BP DEL, 1901T http://identifiers.org/clinvar/30619 ^@ NM_000153.3(GALC):c.857G>A (p.Gly286Asp) http://identifiers.org/clinvar/30620 ^@ NM_000153.3(GALC):c.953C>G (p.Pro318Arg) http://identifiers.org/clinvar/30621 ^@ NM_000153.3(GALC):c.121G>A (p.Gly41Ser) http://identifiers.org/clinvar/30622 ^@ NM_016013.3(NDUFAF1):c.619A>C (p.Thr207Pro) http://identifiers.org/clinvar/30623 ^@ NM_016013.3(NDUFAF1):c.758A>G (p.Lys253Arg) http://identifiers.org/clinvar/30624 ^@ NM_016013.3(NDUFAF1):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/30625 ^@ NDUFAF1, GLY245ARG http://identifiers.org/clinvar/30626 ^@ UROS, IVS9, T-G, -31 http://identifiers.org/clinvar/30627 ^@ NM_000527.4(LDLR):c.2140+86C>G http://identifiers.org/clinvar/30628 ^@ NM_001145079.1(COG6):c.1646G>T (p.Gly549Val) http://identifiers.org/clinvar/30629 ^@ NM_006859.3(LIAS):c.746G>A (p.Arg249His) http://identifiers.org/clinvar/30630 ^@ NM_147686.3(TRAF3IP2):c.28G>A (p.Asp10Asn) http://identifiers.org/clinvar/30631 ^@ FKBP10, 8-BP DUP, NT1016 http://identifiers.org/clinvar/30632 ^@ FKBP10, 35-BP DEL, NT122 http://identifiers.org/clinvar/30633 ^@ FKBP10, 1-BP DUP, 1276G http://identifiers.org/clinvar/30634 ^@ NM_021939.3(FKBP10):c.344G>A (p.Arg115Gln) http://identifiers.org/clinvar/30635 ^@ FKBP10, 1-BP DUP, 743C http://identifiers.org/clinvar/30636 ^@ NM_145068.3(TRPV3):c.1717G>A (p.Gly573Ser) http://identifiers.org/clinvar/30637 ^@ NM_145068.3(TRPV3):c.1717G>T (p.Gly573Cys) http://identifiers.org/clinvar/30638 ^@ NM_145068.3(TRPV3):c.2074T>G (p.Trp692Gly) http://identifiers.org/clinvar/30639 ^@ MCPH1, 1-BP INS, 566A http://identifiers.org/clinvar/30640 ^@ MCPH1, HIS49GLN http://identifiers.org/clinvar/30641 ^@ NM_024596.4(MCPH1):c.215C>T (p.Ser72Leu) http://identifiers.org/clinvar/30642 ^@ MCPH1, SER101TER http://identifiers.org/clinvar/30643 ^@ NM_007208.3(MRPL3):c.950C>G (p.Pro317Arg) http://identifiers.org/clinvar/30644 ^@ PLCB1, 0.5-MB DEL http://identifiers.org/clinvar/30645 ^@ NM_024513.3(FYCO1):c.1045C>T (p.Gln349Ter) http://identifiers.org/clinvar/30646 ^@ NM_024513.3(FYCO1):c.2206C>T (p.Gln736Ter) http://identifiers.org/clinvar/30647 ^@ FYCO1, IVS9DS, G-T, +1 http://identifiers.org/clinvar/30648 ^@ FYCO1, 5-BP DUP, 3858GGAAT http://identifiers.org/clinvar/30649 ^@ NM_024513.3(FYCO1):c.4127T>C (p.Leu1376Pro) http://identifiers.org/clinvar/30650 ^@ NM_024513.3(FYCO1):c.1546C>T (p.Gln516Ter) http://identifiers.org/clinvar/30651 ^@ PTF1A, 24-BP DEL, NT437 http://identifiers.org/clinvar/30652 ^@ NM_006147.3(IRF6):c.65T>C (p.Leu22Pro) http://identifiers.org/clinvar/30653 ^@ NM_006147.3(IRF6):c.251G>T (p.Arg84Leu) http://identifiers.org/clinvar/30654 ^@ NM_006147.3(IRF6):c.1271C>T (p.Ser424Leu) http://identifiers.org/clinvar/30655 ^@ NM_014321.3(ORC6):c.257_258delTT (p.Phe86Terfs) http://identifiers.org/clinvar/30656 ^@ NM_014321.3(ORC6):c.695A>C (p.Tyr232Ser) http://identifiers.org/clinvar/30657 ^@ NM_022138.2(SMOC2):c.84+1G>T http://identifiers.org/clinvar/30658 ^@ NM_001254729.1(AP4S1):c.124C>T (p.Arg42Ter) http://identifiers.org/clinvar/30659 ^@ NC_000015.10:g.50755991_50948682del http://identifiers.org/clinvar/30660 ^@ AP4E1, 4-BP DEL, IVS5DS, 542+1GTAA http://identifiers.org/clinvar/30661 ^@ AP4E1, VAL454FS http://identifiers.org/clinvar/30662 ^@ AP4B1, 3-BP INS, 487TAT http://identifiers.org/clinvar/30663 ^@ AP4B1, 1-BP DEL, 664C http://identifiers.org/clinvar/30664 ^@ EVC2, IVS5, A-G, -2 http://identifiers.org/clinvar/30665 ^@ NM_147127.4(EVC2):c.2653C>T (p.Arg885Ter) http://identifiers.org/clinvar/30666 ^@ NM_006445.3(PRPF8):c.6353C>T (p.Ser2118Phe) http://identifiers.org/clinvar/30667 ^@ PRPF8, ARG2310SER http://identifiers.org/clinvar/30668 ^@ LIPH, CYS246SER http://identifiers.org/clinvar/30669 ^@ NM_139248.2(LIPH):c.742C>A (p.His248Asn) http://identifiers.org/clinvar/30670 ^@ NM_199355.3(ADAMTS18):c.536C>T (p.Ser179Leu) http://identifiers.org/clinvar/30671 ^@ HPS6, 1-BP INS, 1066G http://identifiers.org/clinvar/30672 ^@ HPS6, 2-BP DEL, 1865TG http://identifiers.org/clinvar/30673 ^@ NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) http://identifiers.org/clinvar/30674 ^@ HPS6, 1-BP DUP, 238G http://identifiers.org/clinvar/30675 ^@ NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) http://identifiers.org/clinvar/30676 ^@ NM_024747.5(HPS6):c.223C>T (p.Gln75Ter) http://identifiers.org/clinvar/30677 ^@ NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) http://identifiers.org/clinvar/30678 ^@ NM_057179.2(TWIST2):c.355C>T (p.Gln119Ter) http://identifiers.org/clinvar/30679 ^@ NM_057179.2(TWIST2):c.193C>T (p.Gln65Ter) http://identifiers.org/clinvar/30680 ^@ NM_176824.2(BBS7):c.1592_1597delTTCCAG (p.Val531_Pro532del) http://identifiers.org/clinvar/30681 ^@ PSENEN, 1-BP DEL, 66G http://identifiers.org/clinvar/30682 ^@ PSENEN, 1-BP DEL, 279C http://identifiers.org/clinvar/30683 ^@ CNNM2, 1-BP DEL, 117G http://identifiers.org/clinvar/30684 ^@ NM_017649.4(CNNM2):c.1703C>T (p.Thr568Ile) http://identifiers.org/clinvar/30685 ^@ GNPTG, IVS7AS, G-A, -10 http://identifiers.org/clinvar/30686 ^@ FERMT3, GLY308ARG http://identifiers.org/clinvar/30687 ^@ FERMT3, 1-BP DEL, 1275T http://identifiers.org/clinvar/30688 ^@ CCM2, IVS1, GC-TT, +5 http://identifiers.org/clinvar/30689 ^@ NM_182760.3(SUMF1):c.788G>T (p.Gly263Val) http://identifiers.org/clinvar/30690 ^@ CEP57, 2-BP DEL, 520GA http://identifiers.org/clinvar/30691 ^@ NM_014679.4(CEP57):c.915_925dupCAATGTTCAGC (p.Leu309Profs) http://identifiers.org/clinvar/30692 ^@ NM_014679.4(CEP57):c.241C>T (p.Arg81Ter) http://identifiers.org/clinvar/30693 ^@ NM_016256.3(NAGPA):c.252C>G (p.His84Gln) http://identifiers.org/clinvar/30694 ^@ NM_016256.3(NAGPA):c.982C>T (p.Arg328Cys) http://identifiers.org/clinvar/30695 ^@ NAGPA, 16-BP DEL http://identifiers.org/clinvar/30696 ^@ NM_032580.3(HES7):c.73C>T (p.Arg25Trp) http://identifiers.org/clinvar/30697 ^@ NM_032580.3(HES7):c.556G>T (p.Asp186Tyr) http://identifiers.org/clinvar/30698 ^@ NM_032580.3(HES7):c.172A>G (p.Ile58Val) http://identifiers.org/clinvar/30699 ^@ NFU1, 545G-A http://identifiers.org/clinvar/30700 ^@ NM_001002755.2(NFU1):c.622G>T (p.Gly208Cys) http://identifiers.org/clinvar/30701 ^@ FANCL, 3-BP DEL, 1007TAT http://identifiers.org/clinvar/30702 ^@ FANCL, 4-BP DUP, 1095AATT http://identifiers.org/clinvar/30703 ^@ NM_025132.3(WDR19):c.2129T>C (p.Leu710Ser) http://identifiers.org/clinvar/30704 ^@ NM_025132.3(WDR19):c.3307C>T (p.Arg1103Ter) http://identifiers.org/clinvar/30705 ^@ NM_025132.3(WDR19):c.20T>C (p.Leu7Pro) http://identifiers.org/clinvar/30706 ^@ NM_025132.3(WDR19):c.1034T>G (p.Val345Gly) http://identifiers.org/clinvar/30707 ^@ NM_025132.3(WDR19):c.3068dupA (p.Tyr1023Terfs) http://identifiers.org/clinvar/30708 ^@ SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION http://identifiers.org/clinvar/30709 ^@ NM_024887.3(DHDDS):c.124A>G (p.Lys42Glu) http://identifiers.org/clinvar/30710 ^@ CHSY1, 30-BP DEL, NT55 http://identifiers.org/clinvar/30711 ^@ CHSY1, 1-BP DEL, 14G http://identifiers.org/clinvar/30712 ^@ NM_014918.4(CHSY1):c.205C>T (p.Gln69Ter) http://identifiers.org/clinvar/30713 ^@ CHSY1, IVS1AS, C-G, -3 http://identifiers.org/clinvar/30714 ^@ NM_014918.4(CHSY1):c.1616C>G (p.Pro539Arg) http://identifiers.org/clinvar/30715 ^@ CHSY1, 1-BP DEL, 96C http://identifiers.org/clinvar/30716 ^@ NM_001145805.1(IRGM):c.313C>T (p.Leu105=) http://identifiers.org/clinvar/30717 ^@ NM_024700.3(SNIP1):c.1097A>G (p.Glu366Gly) http://identifiers.org/clinvar/30718 ^@ KRT74, IVS8AS, G-A, -1 http://identifiers.org/clinvar/30719 ^@ NM_175053.3(KRT74):c.1444G>A (p.Asp482Asn) http://identifiers.org/clinvar/30720 ^@ CPS1, IVS29DS, G-C, +1 http://identifiers.org/clinvar/30721 ^@ CPS1, IVS34DS, T-C, +2 http://identifiers.org/clinvar/30722 ^@ NM_206933.2(USH2A):c.7595-2144A>G http://identifiers.org/clinvar/30723 ^@ NM_206933.2(USH2A):c.3129dupT (p.Val1044Cysfs) http://identifiers.org/clinvar/30724 ^@ NM_206933.2(USH2A):c.8890dupT (p.Trp2964Leufs) http://identifiers.org/clinvar/30725 ^@ NM_014297.4(ETHE1):c.554T>G (p.Leu185Arg) http://identifiers.org/clinvar/30726 ^@ NM_022137.5(SMOC1):c.718C>T (p.Gln240Ter) http://identifiers.org/clinvar/30727 ^@ NM_022137.5(SMOC1):c.664+1G>A http://identifiers.org/clinvar/30728 ^@ SMOC1, IVS3, G-A, +1 http://identifiers.org/clinvar/30729 ^@ NM_153026.2(PRICKLE1):c.431G>A (p.Arg144His) http://identifiers.org/clinvar/30730 ^@ NM_153026.2(PRICKLE1):c.1414T>C (p.Tyr472His) http://identifiers.org/clinvar/242690 ^@ NM_198859.3(PRICKLE2):c.443G>A (p.Arg148His) http://identifiers.org/clinvar/242689 ^@ NM_198859.3(PRICKLE2):c.457G>A (p.Val153Ile) http://identifiers.org/clinvar/30733 ^@ NM_198859.3(PRICKLE2):c.1813G>T (p.Val605Phe) http://identifiers.org/clinvar/30734 ^@ MFN2, 3-BP DEL, 113AGA http://identifiers.org/clinvar/30735 ^@ NM_014874.3(MFN2):c.1392+2T>C http://identifiers.org/clinvar/30736 ^@ NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) http://identifiers.org/clinvar/30737 ^@ MFN2, EX7-8DEL http://identifiers.org/clinvar/30738 ^@ NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) http://identifiers.org/clinvar/30739 ^@ NM_001077186.1(MYH14):c.2822G>T (p.Arg941Leu) http://identifiers.org/clinvar/30740 ^@ ANO6, IVS12AS, G-T, -1 http://identifiers.org/clinvar/30741 ^@ PSMC3IP, 3-BP DEL, 600GAG http://identifiers.org/clinvar/30742 ^@ NM_133468.4(BMPER):c.925C>T (p.Gln309Ter) http://identifiers.org/clinvar/30743 ^@ BMPER, 10-BP DEL/14-BP INS, NT26 http://identifiers.org/clinvar/30744 ^@ BMPER, IVS11DS, G-A, +5 http://identifiers.org/clinvar/30745 ^@ NM_133468.4(BMPER):c.1109C>T (p.Pro370Leu) http://identifiers.org/clinvar/30746 ^@ NM_133468.4(BMPER):c.1638T>A (p.Cys546Ter) http://identifiers.org/clinvar/30747 ^@ NM_016952.4(CDON):c.2065C>G (p.Pro689Ala) http://identifiers.org/clinvar/30748 ^@ NM_016952.4(CDON):c.2339T>A (p.Val780Glu) http://identifiers.org/clinvar/30749 ^@ NM_016952.4(CDON):c.2368A>G (p.Thr790Ala) http://identifiers.org/clinvar/30750 ^@ NM_016952.4(CDON):c.2818A>C (p.Ser940Arg) http://identifiers.org/clinvar/30751 ^@ NM_207346.2(TSEN54):c.1172_1185delAGAGGAGCCAGCGC (p.Gln391Profs) http://identifiers.org/clinvar/30752 ^@ NM_003477.2(PDHX):c.44G>A (p.Arg15His) http://identifiers.org/clinvar/30753 ^@ NM_133261.2(GIPC3):c.785T>G (p.Leu262Arg) http://identifiers.org/clinvar/30754 ^@ NM_133261.2(GIPC3):c.903G>A (p.Trp301Ter) http://identifiers.org/clinvar/30755 ^@ GIPC3, 1-BP DUP, 685G http://identifiers.org/clinvar/30756 ^@ NM_133261.2(GIPC3):c.767G>A (p.Gly256Asp) http://identifiers.org/clinvar/30757 ^@ GIPC3, GLY46ARG http://identifiers.org/clinvar/30758 ^@ NM_133261.2(GIPC3):c.565C>T (p.Arg189Cys) http://identifiers.org/clinvar/30759 ^@ NM_020435.3(GJC2):c.-167A>G http://identifiers.org/clinvar/30760 ^@ NM_017651.4(AHI1):c.985C>T (p.Arg329Ter) http://identifiers.org/clinvar/30761 ^@ NM_001134831.1(AHI1):c.1484G>A (p.Arg495His) http://identifiers.org/clinvar/30762 ^@ NG_017005.2:g.64585_124811del http://identifiers.org/clinvar/30763 ^@ FREM1, 4-BP DEL, 2097ATTA http://identifiers.org/clinvar/30764 ^@ NM_144966.5(FREM1):c.3971T>G (p.Leu1324Arg) http://identifiers.org/clinvar/30765 ^@ FREM1, VAL209ILE http://identifiers.org/clinvar/30766 ^@ NM_144966.5(FREM1):c.4499A>T (p.Glu1500Val) http://identifiers.org/clinvar/30767 ^@ NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) http://identifiers.org/clinvar/30768 ^@ NM_005461.4(MAFB):c.184A>C (p.Thr62Pro) http://identifiers.org/clinvar/30769 ^@ NM_005461.4(MAFB):c.208T>G (p.Ser70Ala) http://identifiers.org/clinvar/30770 ^@ NM_005461.4(MAFB):c.209C>T (p.Ser70Leu) http://identifiers.org/clinvar/30771 ^@ NM_005461.4(MAFB):c.211C>T (p.Pro71Ser) http://identifiers.org/clinvar/30772 ^@ NM_005461.4(MAFB):c.212C>T (p.Pro71Leu) http://identifiers.org/clinvar/30773 ^@ NM_005461.4(MAFB):c.161C>T (p.Ser54Leu) http://identifiers.org/clinvar/30774 ^@ NM_181745.3(FFAR4):c.809G>A (p.Arg270His) http://identifiers.org/clinvar/30775 ^@ FLVCR1, GLY493ARG http://identifiers.org/clinvar/30776 ^@ NM_001023570.3(IQCB1):c.333delT (p.Ala112Glnfs) http://identifiers.org/clinvar/30777 ^@ IQCB1, 2-BP DEL, 1516CA http://identifiers.org/clinvar/30778 ^@ NM_001023570.3(IQCB1):c.1465C>T (p.Arg489Ter) http://identifiers.org/clinvar/30779 ^@ NM_001023570.3(IQCB1):c.1036G>T (p.Glu346Ter) http://identifiers.org/clinvar/30780 ^@ NM_005767.5(LPAR6):c.587C>T (p.Pro196Leu) http://identifiers.org/clinvar/30781 ^@ NM_013296.4(GPSM2):c.1684C>T (p.Gln562Ter) http://identifiers.org/clinvar/30782 ^@ RAB3GAP2, 9-BP DEL, NT499 http://identifiers.org/clinvar/30783 ^@ NM_018451.4(CENPJ):c.2462C>T (p.Thr821Met) http://identifiers.org/clinvar/30784 ^@ SPRED1, 2-BP DEL, 1045AG http://identifiers.org/clinvar/30785 ^@ NM_016097.4(IER3IP1):c.62T>G (p.Val21Gly) http://identifiers.org/clinvar/30786 ^@ NM_016097.4(IER3IP1):c.233T>C (p.Leu78Pro) http://identifiers.org/clinvar/30787 ^@ NDE1, 2-BP DEL, 684AC http://identifiers.org/clinvar/30788 ^@ NDE1, IVS2DS, G-T, +1 http://identifiers.org/clinvar/30789 ^@ NDE1, 1-BP DUP, 733C http://identifiers.org/clinvar/30790 ^@ IL31RA, SER521PHE http://identifiers.org/clinvar/30791 ^@ NM_020361.4(CPA6):c.809C>T (p.Ala270Val) http://identifiers.org/clinvar/30792 ^@ CPA6, GLY267ARG http://identifiers.org/clinvar/30793 ^@ NM_024884.2(L2HGDH):c.1003C>T (p.Arg335Ter) http://identifiers.org/clinvar/30794 ^@ NM_030916.2(NECTIN4):c.635C>G (p.Pro212Arg) http://identifiers.org/clinvar/30795 ^@ NM_000263.3(NAGLU):c.1694G>A (p.Arg565Gln) http://identifiers.org/clinvar/30796 ^@ NM_001199799.1(ILDR1):c.1135G>T (p.Glu379Ter) http://identifiers.org/clinvar/30797 ^@ NM_001199799.1(ILDR1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/30798 ^@ NM_001199799.1(ILDR1):c.583C>T (p.Gln195Ter) http://identifiers.org/clinvar/30799 ^@ ILDR1, 1-BP DEL, 1032G http://identifiers.org/clinvar/30800 ^@ NM_015506.2(MMACHC):c.609G>A (p.Trp203Ter) http://identifiers.org/clinvar/30801 ^@ MMACHC, 3-BP DEL, 658AAG http://identifiers.org/clinvar/30802 ^@ NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys) http://identifiers.org/clinvar/30803 ^@ NM_024549.5(TCTN1):c.221-2A>G http://identifiers.org/clinvar/30804 ^@ SPATA7, 4-BP DEL, 265CTCA http://identifiers.org/clinvar/30805 ^@ SPATA7, 3-BP DEL, 1227CAC http://identifiers.org/clinvar/30806 ^@ NM_018418.4(SPATA7):c.253C>T (p.Arg85Ter) http://identifiers.org/clinvar/30807 ^@ NC_000010.11:g.68247363_68253885del6523 http://identifiers.org/clinvar/30808 ^@ TMEM67, PRO358LEU http://identifiers.org/clinvar/30809 ^@ NM_020461.3(TUBGCP6):c.5458T>G (p.Ter1820Gly) http://identifiers.org/clinvar/30810 ^@ NM_138501.5(TECR):c.545C>T (p.Pro182Leu) http://identifiers.org/clinvar/30811 ^@ NM_203290.3(POLR1C):c.836G>A (p.Arg279Gln) http://identifiers.org/clinvar/30812 ^@ POLR1C, IVS8, 4-BP DEL, +3 http://identifiers.org/clinvar/30813 ^@ NM_203290.3(POLR1C):c.979A>T (p.Lys327Ter) http://identifiers.org/clinvar/30814 ^@ POLR1C, 1-BP DEL, 87T http://identifiers.org/clinvar/30815 ^@ NM_203290.3(POLR1C):c.835C>T (p.Arg279Trp) http://identifiers.org/clinvar/30816 ^@ NM_031427.3(DNAL1):c.449A>G (p.Asn150Ser) http://identifiers.org/clinvar/30817 ^@ NM_024685.3(BBS10):c.1044_1045delTT (p.Pro350Ilefs) http://identifiers.org/clinvar/30818 ^@ NM_024685.3(BBS10):c.273C>G (p.Cys91Trp) http://identifiers.org/clinvar/30819 ^@ NM_018006.4(TRMU):c.835G>A (p.Val279Met) http://identifiers.org/clinvar/30820 ^@ TRMU, IVS11AS, C-G, -3 http://identifiers.org/clinvar/30821 ^@ NM_017837.3(PIGV):c.467G>A (p.Cys156Tyr) http://identifiers.org/clinvar/30822 ^@ NM_018192.3(P3H2):c.1523G>T (p.Gly508Val) http://identifiers.org/clinvar/30823 ^@ AGK, IVS3DS, T-C, +2 http://identifiers.org/clinvar/30824 ^@ AGK, TYR390TER http://identifiers.org/clinvar/30825 ^@ AGK, IVS13DS, G-T, +1 http://identifiers.org/clinvar/30826 ^@ AGK, MET1ILE http://identifiers.org/clinvar/30827 ^@ NM_018238.3(AGK):c.517C>T (p.Gln173Ter) http://identifiers.org/clinvar/30828 ^@ AGK, TYR102TER http://identifiers.org/clinvar/30829 ^@ NM_018238.3(AGK):c.841C>T (p.Arg281Ter) http://identifiers.org/clinvar/30830 ^@ AGK, TYR224TER http://identifiers.org/clinvar/30831 ^@ AGK, IVS16DS, G-A, +5 http://identifiers.org/clinvar/30832 ^@ NM_152419.2(HGSNAT):c.234+1G>A http://identifiers.org/clinvar/30833 ^@ NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs) http://identifiers.org/clinvar/30834 ^@ NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs) http://identifiers.org/clinvar/30835 ^@ GLYCTK, 1-BP DEL, 1448T http://identifiers.org/clinvar/30836 ^@ NM_145262.3(GLYCTK):c.1478T>G (p.Phe493Cys) http://identifiers.org/clinvar/30837 ^@ GLYCTK, 1-BP DEL, 1558C http://identifiers.org/clinvar/30838 ^@ CEP41, IVS1DS, T-G, +2 http://identifiers.org/clinvar/30839 ^@ CEP41, 3-BP DEL, IVS1DS, 97GAG http://identifiers.org/clinvar/30840 ^@ CEP41, IVS6AS, A-C, -2 http://identifiers.org/clinvar/30841 ^@ NM_018718.2(CEP41):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/30842 ^@ NM_018718.2(CEP41):c.107T>C (p.Met36Thr) http://identifiers.org/clinvar/30843 ^@ NM_018718.2(CEP41):c.1078C>T (p.Arg360Cys) http://identifiers.org/clinvar/30844 ^@ CEP41, SER28TER http://identifiers.org/clinvar/30845 ^@ NM_001029871.3(RSPO4):c.301C>T (p.Gln101Ter) http://identifiers.org/clinvar/30846 ^@ NM_001029871.3(RSPO4):c.190C>T (p.Arg64Cys) http://identifiers.org/clinvar/30847 ^@ NM_001029871.3(RSPO4):c.199G>C (p.Gly67Arg) http://identifiers.org/clinvar/30848 ^@ NM_138455.3(CTHRC1):c.131A>C (p.Gln44Pro) http://identifiers.org/clinvar/30849 ^@ NM_178557.3(NAT8L):c.212_230del19 (p.Gly71Alafs) http://identifiers.org/clinvar/30850 ^@ NM_014908.3(DOLK):c.1222C>G (p.His408Asp) http://identifiers.org/clinvar/30851 ^@ DOLK, TRP304CYS http://identifiers.org/clinvar/30852 ^@ DOLK, MET1ILE http://identifiers.org/clinvar/30853 ^@ NM_014915.2(ANKRD26):c.-134G>A http://identifiers.org/clinvar/30854 ^@ ANKRD26, -127A-T http://identifiers.org/clinvar/30855 ^@ ANKRD26, -128G-A http://identifiers.org/clinvar/30856 ^@ FLVCR2, TYR134TER http://identifiers.org/clinvar/30857 ^@ NM_020754.3(ARHGAP31):c.2047C>T (p.Gln683Ter) http://identifiers.org/clinvar/30858 ^@ ARHGAP31, 1-BP DEL, 3260A http://identifiers.org/clinvar/30859 ^@ NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) http://identifiers.org/clinvar/30860 ^@ NM_138361.5(LRSAM1):c.2121_2122dupGC (p.Leu708Argfs) http://identifiers.org/clinvar/30861 ^@ NM_001146261.2(SYT14):c.1451G>A (p.Gly484Asp) http://identifiers.org/clinvar/30862 ^@ DARS2, IVS2, T-A, -22 http://identifiers.org/clinvar/30863 ^@ NM_018122.4(DARS2):c.1825C>T (p.Arg609Trp) http://identifiers.org/clinvar/30864 ^@ NM_022489.3(INF2):c.310T>C (p.Cys104Arg) http://identifiers.org/clinvar/30865 ^@ NM_022489.3(INF2):c.311G>T (p.Cys104Phe) http://identifiers.org/clinvar/30866 ^@ NM_022489.3(INF2):c.312C>G (p.Cys104Trp) http://identifiers.org/clinvar/30867 ^@ NM_022489.3(INF2):c.383T>C (p.Leu128Pro) http://identifiers.org/clinvar/30868 ^@ NM_022489.3(INF2):c.395T>G (p.Leu132Arg) http://identifiers.org/clinvar/30869 ^@ INF2, 9-BP DEL, NT490 http://identifiers.org/clinvar/30870 ^@ NM_024306.4(FA2H):c.703C>T (p.Arg235Cys) http://identifiers.org/clinvar/30871 ^@ NM_024306.4(FA2H):c.159_176del18 (p.Arg53_Ile58del) http://identifiers.org/clinvar/30872 ^@ NM_024306.4(FA2H):c.460C>T (p.Arg154Cys) http://identifiers.org/clinvar/30873 ^@ NM_024306.4(FA2H):c.510_511delCA (p.Tyr170Terfs) http://identifiers.org/clinvar/30874 ^@ NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) http://identifiers.org/clinvar/30875 ^@ FAM20C, ASP437ASN http://identifiers.org/clinvar/30876 ^@ NM_020223.3(FAM20C):c.737T>A (p.Ile246Asn) http://identifiers.org/clinvar/30877 ^@ NM_020223.3(FAM20C):c.796G>A (p.Gly266Arg) http://identifiers.org/clinvar/30878 ^@ NM_020223.3(FAM20C):c.982C>T (p.Pro328Ser) http://identifiers.org/clinvar/30879 ^@ NM_017565.3(FAM20A):c.406C>T (p.Arg136Ter) http://identifiers.org/clinvar/30880 ^@ NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) http://identifiers.org/clinvar/30881 ^@ NM_014049.4(ACAD9):c.130T>A (p.Phe44Ile) http://identifiers.org/clinvar/30882 ^@ NM_014049.4(ACAD9):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/30883 ^@ NM_014049.4(ACAD9):c.976G>C (p.Ala326Pro) http://identifiers.org/clinvar/30884 ^@ NM_014049.4(ACAD9):c.1594C>T (p.Arg532Trp) http://identifiers.org/clinvar/30885 ^@ NM_018713.2(SLC30A10):c.314_322delCCCGGCCCG (p.Ala105_Pro107del) http://identifiers.org/clinvar/30886 ^@ NM_018713.2(SLC30A10):c.266T>C (p.Leu89Pro) http://identifiers.org/clinvar/30887 ^@ NM_018713.2(SLC30A10):c.585delG (p.Thr196Profs) http://identifiers.org/clinvar/30888 ^@ NM_018713.2(SLC30A10):c.507delG (p.Pro170Leufs) http://identifiers.org/clinvar/30889 ^@ NM_018713.2(SLC30A10):c.1235delA (p.Gln412Argfs) http://identifiers.org/clinvar/30890 ^@ NM_001256182.1(ANKRD11):c.7570_7575delGAGAAG http://identifiers.org/clinvar/30891 ^@ NM_001256182.1(ANKRD11):c.2305delT (p.Ser769Glnfs) http://identifiers.org/clinvar/30892 ^@ NM_001256182.1(ANKRD11):c.5953_5954delCA (p.Gln1985Glufs) http://identifiers.org/clinvar/30893 ^@ NM_025219.2(DNAJC5):c.346_348delCTC (p.Leu116del) http://identifiers.org/clinvar/30894 ^@ NM_025219.2(DNAJC5):c.344T>G (p.Leu115Arg) http://identifiers.org/clinvar/30895 ^@ NM_198525.2(KIF7):c.2896_2897delGC (p.Ala966Profs) http://identifiers.org/clinvar/30896 ^@ NM_198525.2(KIF7):c.460C>T (p.Arg154Ter) http://identifiers.org/clinvar/30897 ^@ NM_198525.2(KIF7):c.3001C>T (p.Gln1001Ter) http://identifiers.org/clinvar/30898 ^@ NM_198525.2(KIF7):c.587dupT (p.Glu197Glyfs) http://identifiers.org/clinvar/30899 ^@ NM_198525.2(KIF7):c.687delG (p.Arg230Alafs) http://identifiers.org/clinvar/30900 ^@ NM_198525.2(KIF7):c.217delG (p.Ala73Profs) http://identifiers.org/clinvar/30901 ^@ NM_198525.2(KIF7):c.811delG (p.Glu271Argfs) http://identifiers.org/clinvar/30902 ^@ NM_198525.2(KIF7):c.3986_3997delGACGAGCCAGCC (p.Arg1329_Ser1332del) http://identifiers.org/clinvar/30903 ^@ TDRD7, 3-BP DEL, VAL618 http://identifiers.org/clinvar/30904 ^@ NM_058246.3(DNAJB6):c.277T>C (p.Phe93Leu) http://identifiers.org/clinvar/30905 ^@ NM_058246.3(DNAJB6):c.287C>G (p.Pro96Arg) http://identifiers.org/clinvar/30906 ^@ NC_000015.10:g.27874792_28058639del http://identifiers.org/clinvar/30907 ^@ NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) http://identifiers.org/clinvar/30908 ^@ NM_006662.2(SRCAP):c.7330C>T (p.Arg2444Ter) http://identifiers.org/clinvar/30909 ^@ NM_006662.2(SRCAP):c.7303C>T (p.Arg2435Ter) http://identifiers.org/clinvar/30910 ^@ NM_006662.2(SRCAP):c.7549delC (p.Gln2517Lysfs) http://identifiers.org/clinvar/30911 ^@ NM_020320.4(RARS2):c.1024A>G (p.Met342Val) http://identifiers.org/clinvar/30912 ^@ NM_020320.4(RARS2):c.35A>G (p.Gln12Arg) http://identifiers.org/clinvar/30913 ^@ NM_007175.6(ERLIN2):c.812_813insAC (p.Asn272Profs) http://identifiers.org/clinvar/30914 ^@ NM_152722.4(HEPACAM):c.587C>A (p.Ser196Tyr) http://identifiers.org/clinvar/30915 ^@ HEPACAM, TRP263TER http://identifiers.org/clinvar/30916 ^@ NM_152722.4(HEPACAM):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/30917 ^@ NM_152722.4(HEPACAM):c.631G>A (p.Asp211Asn) http://identifiers.org/clinvar/30918 ^@ NM_152722.4(HEPACAM):c.292C>T (p.Arg98Cys) http://identifiers.org/clinvar/30919 ^@ NM_152722.4(HEPACAM):c.265G>A (p.Gly89Ser) http://identifiers.org/clinvar/30920 ^@ NM_152722.4(HEPACAM):c.266G>A (p.Gly89Asp) http://identifiers.org/clinvar/30921 ^@ NM_152722.4(HEPACAM):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/30922 ^@ SLC46A1, 1-BP INS, 17C http://identifiers.org/clinvar/30923 ^@ NM_080669.5(SLC46A1):c.1004C>A (p.Ala335Asp) http://identifiers.org/clinvar/30924 ^@ NM_080669.5(SLC46A1):c.204_205delCC (p.Asn68Lysfs) http://identifiers.org/clinvar/30925 ^@ NM_080669.5(SLC46A1):c.1012G>C (p.Gly338Arg) http://identifiers.org/clinvar/30926 ^@ NM_001017361.2(KHDC3L):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/30927 ^@ NM_001017361.2(KHDC3L):c.322_325delGACT (p.Asp108Ilefs) http://identifiers.org/clinvar/30928 ^@ NM_001017361.2(KHDC3L):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/30929 ^@ NM_024592.4(SRD5A3):c.204dupC (p.Phe69Leufs) http://identifiers.org/clinvar/30930 ^@ NM_198488.3(FAM83H):c.1366C>T (p.Gln456Ter) http://identifiers.org/clinvar/30931 ^@ B9D2, SER101ARG http://identifiers.org/clinvar/30932 ^@ ZFYVE26, 1-BP DEL, 5036T http://identifiers.org/clinvar/30933 ^@ NM_015346.3(ZFYVE26):c.5422C>T (p.Gln1808Ter) http://identifiers.org/clinvar/30934 ^@ NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) http://identifiers.org/clinvar/30935 ^@ NM_024753.4(TTC21B):c.626C>T (p.Pro209Leu) http://identifiers.org/clinvar/30936 ^@ NM_024753.4(TTC21B):c.1656T>A (p.Cys552Ter) http://identifiers.org/clinvar/30937 ^@ NM_024753.4(TTC21B):c.2758-2A>G http://identifiers.org/clinvar/30938 ^@ NM_024753.4(TTC21B):c.1231C>T (p.Arg411Ter) http://identifiers.org/clinvar/30939 ^@ NM_024753.4(TTC21B):c.2384T>C (p.Leu795Pro) http://identifiers.org/clinvar/30940 ^@ NM_020745.3(AARS2):c.1774C>T (p.Arg592Trp) http://identifiers.org/clinvar/30941 ^@ NM_020745.3(AARS2):c.464T>G (p.Leu155Arg) http://identifiers.org/clinvar/30942 ^@ NM_001127464.2(ZNF469):c.10016G>A (p.Cys3339Tyr) http://identifiers.org/clinvar/30943 ^@ NM_001127464.2(ZNF469):c.4174G>T (p.Glu1392Ter) http://identifiers.org/clinvar/30944 ^@ NM_001145320.1(ADAMTSL2):c.215G>A (p.Arg72Gln) http://identifiers.org/clinvar/30945 ^@ NM_001145320.1(ADAMTSL2):c.661C>T (p.Arg221Cys) http://identifiers.org/clinvar/30946 ^@ SLC29A3, IVS2, G-A, +1 http://identifiers.org/clinvar/30947 ^@ NM_018344.5(SLC29A3):c.308_309delTT (p.Phe103Terfs) http://identifiers.org/clinvar/30948 ^@ NM_018344.5(SLC29A3):c.1088G>A (p.Arg363Gln) http://identifiers.org/clinvar/30949 ^@ NM_018344.5(SLC29A3):c.1087C>T (p.Arg363Trp) http://identifiers.org/clinvar/30950 ^@ SLC29A3, 1-BP DEL, 243A http://identifiers.org/clinvar/30951 ^@ NM_001012515.2(FECH):c.571G>A (p.Ala191Thr) http://identifiers.org/clinvar/30952 ^@ NM_005198.4(CHKB):c.810T>A (p.Tyr270Ter) http://identifiers.org/clinvar/30953 ^@ NM_005198.4(CHKB):c.116C>A (p.Ser39Ter) http://identifiers.org/clinvar/30954 ^@ NM_005198.4(CHKB):c.458dupT (p.Leu153Phefs) http://identifiers.org/clinvar/30955 ^@ NM_005198.4(CHKB):c.922C>T (p.Gln308Ter) http://identifiers.org/clinvar/30956 ^@ NM_005198.4(CHKB):c.677+1G>A http://identifiers.org/clinvar/30957 ^@ TMEM70, TYR112TER http://identifiers.org/clinvar/30958 ^@ NM_001040613.2(TMEM70):c.238C>T (p.Arg80Ter) http://identifiers.org/clinvar/30959 ^@ TMEM70, 2-BP DEL, 578CA http://identifiers.org/clinvar/30960 ^@ MEGF10, 10-BP DUP, NT2288 http://identifiers.org/clinvar/30961 ^@ NM_032446.2(MEGF10):c.1559G>A (p.Trp520Ter) http://identifiers.org/clinvar/30962 ^@ NM_032446.2(MEGF10):c.2301C>A (p.Cys767Ter) http://identifiers.org/clinvar/30963 ^@ NM_032446.2(MEGF10):c.3144T>G (p.Tyr1048Ter) http://identifiers.org/clinvar/30964 ^@ NM_032446.2(MEGF10):c.1325delC (p.Pro442Hisfs) http://identifiers.org/clinvar/30965 ^@ NM_032446.2(MEGF10):c.2320T>C (p.Cys774Arg) http://identifiers.org/clinvar/30966 ^@ NM_032446.2(MEGF10):c.976T>C (p.Cys326Arg) http://identifiers.org/clinvar/30967 ^@ NM_032446.2(MEGF10):c.211C>T (p.Arg71Trp) http://identifiers.org/clinvar/30968 ^@ NM_024027.4(COLEC11):c.505T>C (p.Ser169Pro) http://identifiers.org/clinvar/30969 ^@ COLEC11, 1-BP DEL, 45C http://identifiers.org/clinvar/30970 ^@ NM_024027.4(COLEC11):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/30971 ^@ COLEC11, 3-BP DEL, 648CTC http://identifiers.org/clinvar/30972 ^@ COLEC11, 1-BP DEL, 300T http://identifiers.org/clinvar/30973 ^@ COLEC11, EX1-3DEL http://identifiers.org/clinvar/30975 ^@ NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp) http://identifiers.org/clinvar/30976 ^@ NM_018081.2(WRAP53):c.1126C>T (p.His376Tyr) http://identifiers.org/clinvar/30978 ^@ NM_000035.3(ALDOB):c.-10-2043_624+62del http://identifiers.org/clinvar/30979 ^@ NM_000035.3(ALDOB):c.136A>T (p.Arg46Trp) http://identifiers.org/clinvar/30980 ^@ NM_000035.3(ALDOB):c.1027T>C (p.Tyr343His) http://identifiers.org/clinvar/30981 ^@ NM_001128430.1(SMARCAD1):c.1281+665G>T http://identifiers.org/clinvar/30982 ^@ NM_001145901.1(SARS2):c.1175A>G (p.Asp392Gly) http://identifiers.org/clinvar/30983 ^@ NM_001195263.1(PDZD7):c.166dupC (p.Arg56Profs) http://identifiers.org/clinvar/30984 ^@ PDZD7, 9-BP INS, NT2194 http://identifiers.org/clinvar/30985 ^@ NM_015338.5(ASXL1):c.2773C>T (p.Gln925Ter) http://identifiers.org/clinvar/30986 ^@ NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter) http://identifiers.org/clinvar/30987 ^@ NM_015338.5(ASXL1):c.3083C>A (p.Ser1028Ter) http://identifiers.org/clinvar/30988 ^@ ASLX1, 1-BP DUP, NT2535 http://identifiers.org/clinvar/30989 ^@ NM_015338.5(ASXL1):c.2197C>T (p.Gln733Ter) http://identifiers.org/clinvar/30990 ^@ NM_144612.6(LOXHD1):c.4714C>T (p.Arg1572Ter) http://identifiers.org/clinvar/30991 ^@ NM_144612.6(LOXHD1):c.1639C>T (p.Arg547Cys) http://identifiers.org/clinvar/30992 ^@ NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) http://identifiers.org/clinvar/30993 ^@ NM_144573.3(NEXN):c.391C>G (p.Gln131Glu) http://identifiers.org/clinvar/30994 ^@ NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) http://identifiers.org/clinvar/30995 ^@ NM_025099.5(CTC1):c.724_727delAAAG (p.Lys242Leufs) http://identifiers.org/clinvar/30996 ^@ NM_025099.5(CTC1):c.2959C>T (p.Arg987Trp) http://identifiers.org/clinvar/30997 ^@ NM_025099.5(CTC1):c.2611G>A (p.Val871Met) http://identifiers.org/clinvar/30998 ^@ NM_025099.5(CTC1):c.775G>A (p.Val259Met) http://identifiers.org/clinvar/30999 ^@ NM_025099.5(CTC1):c.2518C>T (p.Arg840Trp) http://identifiers.org/clinvar/31000 ^@ NM_025099.5(CTC1):c.2831delC (p.Pro944Leufs) http://identifiers.org/clinvar/31001 ^@ NM_025099.5(CTC1):c.3425T>A (p.Leu1142His) http://identifiers.org/clinvar/31002 ^@ NM_025099.5(CTC1):c.1994T>G (p.Val665Gly) http://identifiers.org/clinvar/31003 ^@ NM_025099.5(CTC1):c.3583C>T (p.Arg1195Ter) http://identifiers.org/clinvar/31004 ^@ NM_025099.5(CTC1):c.680C>T (p.Ala227Val) http://identifiers.org/clinvar/31005 ^@ NM_025099.5(CTC1):c.1058delC (p.Ser353Leufs) http://identifiers.org/clinvar/31006 ^@ NM_012338.3(TSPAN12):c.734T>C (p.Leu245Pro) http://identifiers.org/clinvar/31007 ^@ MIR184, 57C-T http://identifiers.org/clinvar/31008 ^@ VWF, 8.6-KB DEL, EX4-5 http://identifiers.org/clinvar/31009 ^@ NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys) http://identifiers.org/clinvar/31010 ^@ VWF, TRP1745CYS http://identifiers.org/clinvar/31011 ^@ NM_000552.4(VWF):c.2279G>A (p.Arg760His) http://identifiers.org/clinvar/31012 ^@ NM_000552.4(VWF):c.5347T>G (p.Ser1783Ala) http://identifiers.org/clinvar/31013 ^@ NM_001159772.1(CANT1):c.902_906dupGCGCC (p.Ser303Alafs) http://identifiers.org/clinvar/31014 ^@ NM_001159772.1(CANT1):c.228dupC (p.Trp77Leufs) http://identifiers.org/clinvar/31015 ^@ NM_001159772.1(CANT1):c.277_278delCT (p.Leu93Valfs) http://identifiers.org/clinvar/31016 ^@ NM_001159772.1(CANT1):c.671T>C (p.Leu224Pro) http://identifiers.org/clinvar/31017 ^@ NM_001159772.1(CANT1):c.375G>C (p.Trp125Cys) http://identifiers.org/clinvar/31018 ^@ NM_001159772.1(CANT1):c.676G>A (p.Val226Met) http://identifiers.org/clinvar/31019 ^@ NM_001159772.1(CANT1):c.1079C>A (p.Ala360Asp) http://identifiers.org/clinvar/31020 ^@ NM_212552.2(BOLA3):c.123dupA (p.Glu42Argfs) http://identifiers.org/clinvar/31021 ^@ SLX4, 1-BP DEL, 286A http://identifiers.org/clinvar/31022 ^@ SLX4, 1-BP DEL, 1093C http://identifiers.org/clinvar/31023 ^@ SLX4, IVS5DS, 1-BP DUP, T, +3 http://identifiers.org/clinvar/31024 ^@ SLX4, IVS5DS, T-A, +2 http://identifiers.org/clinvar/31025 ^@ SLX4, 1-BP DEL, 514C http://identifiers.org/clinvar/31026 ^@ SLX4, 4,890-BP DEL/2-BP INS http://identifiers.org/clinvar/31027 ^@ SLC52A3, 1198A-C, -2 http://identifiers.org/clinvar/31029 ^@ SLC52A3, TYR213TER http://identifiers.org/clinvar/31030 ^@ CEP152, IVS4DS, G-C, +1 http://identifiers.org/clinvar/31031 ^@ CEP152, TYR678TER http://identifiers.org/clinvar/31032 ^@ CEP152, IVS19DS, G-T, +1 http://identifiers.org/clinvar/31033 ^@ CEP152, 2-BP DEL, 4210GT http://identifiers.org/clinvar/31034 ^@ NM_014985.3(CEP152):c.2000A>G (p.Lys667Arg) http://identifiers.org/clinvar/31035 ^@ NM_001083961.1(WDR62):c.1313G>A (p.Arg438His) http://identifiers.org/clinvar/31036 ^@ NM_001083961.1(WDR62):c.4241dupT (p.Ser1415Glufs) http://identifiers.org/clinvar/31037 ^@ NM_001083961.1(WDR62):c.1531G>A (p.Asp511Asn) http://identifiers.org/clinvar/31038 ^@ NM_001083961.1(WDR62):c.3936dupC (p.Val1313Argfs) http://identifiers.org/clinvar/31039 ^@ NM_001083961.1(WDR62):c.363delT (p.Asp122Metfs) http://identifiers.org/clinvar/31040 ^@ NM_001083961.1(WDR62):c.193G>A (p.Val65Met) http://identifiers.org/clinvar/31041 ^@ NM_173636.4(WDR62):c.2086delA (p.Ser696Alafs) http://identifiers.org/clinvar/31042 ^@ NM_173636.4(WDR62):c.2746_2747delAG (p.Gln918Glyfs) http://identifiers.org/clinvar/31043 ^@ NG_021212.1:g.14647_17493del2847 http://identifiers.org/clinvar/31044 ^@ NM_001006657.1(WDR35):c.1633C>T (p.Arg545Ter) http://identifiers.org/clinvar/31045 ^@ NM_001006657.1(WDR35):c.781T>C (p.Trp261Arg) http://identifiers.org/clinvar/31046 ^@ NM_153334.6(SCARF2):c.773G>A (p.Cys258Tyr) http://identifiers.org/clinvar/31047 ^@ NM_153334.6(SCARF2):c.1328_1329delTG (p.Val443Aspfs) http://identifiers.org/clinvar/31048 ^@ NM_017547.3(FOXRED1):c.1054C>T (p.Arg352Trp) http://identifiers.org/clinvar/31049 ^@ POLR1D, ARG87TER http://identifiers.org/clinvar/31050 ^@ POLR1D, GLU47LYS http://identifiers.org/clinvar/31051 ^@ POLR1D, LEU51ARG http://identifiers.org/clinvar/31052 ^@ POLR1D, 2-BP DEL, 326CA http://identifiers.org/clinvar/31053 ^@ POLR1D, 2-BP DUP, 263G http://identifiers.org/clinvar/31054 ^@ POLR1D, 2-BP INS, 88TG http://identifiers.org/clinvar/31055 ^@ NM_198080.3(MSRB3):c.265T>G (p.Cys89Gly) http://identifiers.org/clinvar/31056 ^@ NM_001031679.2(MSRB3):c.55C>T (p.Arg19Ter) http://identifiers.org/clinvar/31057 ^@ NM_018075.4(ANO10):c.1529T>G (p.Leu510Arg) http://identifiers.org/clinvar/31058 ^@ NM_018075.4(ANO10):c.1150_1151delTT (p.Leu384Asnfs) http://identifiers.org/clinvar/31059 ^@ NM_018075.4(ANO10):c.1476+1G>T http://identifiers.org/clinvar/31060 ^@ NM_018075.4(ANO10):c.1604delT (p.Leu535Terfs) http://identifiers.org/clinvar/31061 ^@ KBTBD13, LYS390ASN http://identifiers.org/clinvar/31062 ^@ NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) http://identifiers.org/clinvar/31063 ^@ NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) http://identifiers.org/clinvar/31064 ^@ RNF213, ARG4859LYS http://identifiers.org/clinvar/31065 ^@ CCDC39, 1-BP DEL, 2190A http://identifiers.org/clinvar/31066 ^@ CCDC39, 1-BP DEL, 1072A http://identifiers.org/clinvar/31067 ^@ NM_181426.1(CCDC39):c.357+1G>C http://identifiers.org/clinvar/31068 ^@ CCDC39, 3-BP DEL/1-BP INS, NT2357 http://identifiers.org/clinvar/31069 ^@ NM_017950.3(CCDC40):c.248delC (p.Ala83Valfs) http://identifiers.org/clinvar/31070 ^@ NM_017950.3(CCDC40):c.1315C>T (p.Gln439Ter) http://identifiers.org/clinvar/31071 ^@ NM_017950.3(CCDC40):c.1951C>T (p.Gln651Ter) http://identifiers.org/clinvar/31072 ^@ NM_017950.3(CCDC40):c.1345C>T (p.Arg449Ter) http://identifiers.org/clinvar/31073 ^@ NM_017775.3(TTC19):c.656T>G (p.Leu219Ter) http://identifiers.org/clinvar/31074 ^@ NM_017775.3(TTC19):c.517C>T (p.Gln173Ter) http://identifiers.org/clinvar/242688 ^@ NM_000500.7(CYP21A2):c.719T>A (p.Met240Lys) http://identifiers.org/clinvar/31076 ^@ NM_024809.4(TCTN2):c.1506-2A>G http://identifiers.org/clinvar/31077 ^@ NM_001195129.1(PRSS56):c.1066dupC (p.Gln356Profs) http://identifiers.org/clinvar/31078 ^@ NM_001195129.1(PRSS56):c.1795C>G (p.Pro599Ala) http://identifiers.org/clinvar/31079 ^@ NM_001195129.1(PRSS56):c.926G>C (p.Trp309Ser) http://identifiers.org/clinvar/31080 ^@ NM_001195129.1(PRSS56):c.526C>G (p.Arg176Gly) http://identifiers.org/clinvar/31081 ^@ F10, THR318MET http://identifiers.org/clinvar/31082 ^@ NM_000420.2(KEL):c.1790T>C (p.Leu597Pro) http://identifiers.org/clinvar/31083 ^@ NC_000012.12:g.(?_63558913)_(63669201_?)del http://identifiers.org/clinvar/31084 ^@ NM_000191.2(HMGCL):c.914_915delTT (p.Phe305Tyrfs) http://identifiers.org/clinvar/31085 ^@ NM_198994.2(TGM6):c.1550T>G (p.Leu517Trp) http://identifiers.org/clinvar/31086 ^@ NM_198994.2(TGM6):c.980A>G (p.Asp327Gly) http://identifiers.org/clinvar/31087 ^@ NM_001008215.2(COA5):c.157G>C (p.Ala53Pro) http://identifiers.org/clinvar/31088 ^@ LIPN, 2-BP DEL, 399GA http://identifiers.org/clinvar/31089 ^@ NM_012469.3(PRPF6):c.2185C>T (p.Arg729Trp) http://identifiers.org/clinvar/31090 ^@ NM_017813.4(IMPAD1):c.529G>A (p.Asp177Asn) http://identifiers.org/clinvar/31091 ^@ NM_017813.4(IMPAD1):c.547A>C (p.Thr183Pro) http://identifiers.org/clinvar/31092 ^@ NM_017813.4(IMPAD1):c.559C>T (p.Arg187Ter) http://identifiers.org/clinvar/31093 ^@ NM_014797.2(ZBTB24):c.958C>T (p.Arg320Ter) http://identifiers.org/clinvar/31094 ^@ ZBTB24, SER16TER http://identifiers.org/clinvar/31095 ^@ ZBTB24, SER278TER http://identifiers.org/clinvar/31096 ^@ NM_014797.2(ZBTB24):c.1222T>G (p.Cys408Gly) http://identifiers.org/clinvar/31097 ^@ NM_014797.2(ZBTB24):c.1369C>T (p.Arg457Ter) http://identifiers.org/clinvar/31098 ^@ NM_052873.2(IFT43):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/31099 ^@ ICAM4, 10-BP DEL, NT346 http://identifiers.org/clinvar/31100 ^@ NM_019026.4(TMCO1):c.139_140delAG (p.Arg47Thrfs) http://identifiers.org/clinvar/31101 ^@ NM_015330.4(SPECC1L):c.1244A>C (p.Gln415Pro) http://identifiers.org/clinvar/31102 ^@ NM_001243473.2(B9D1):c.400+2T>C http://identifiers.org/clinvar/31103 ^@ B9D1, 1.71-MB DEL http://identifiers.org/clinvar/31104 ^@ CCDC8, 1-BP DUP, 612G http://identifiers.org/clinvar/31105 ^@ CCDC8, 1-BP DUP, 84T http://identifiers.org/clinvar/31106 ^@ NM_006392.3(NOP56):c.3+71_3+75[(16_?)] http://identifiers.org/clinvar/31107 ^@ NM_201269.2(ZNF644):c.2014A>G (p.Ser672Gly) http://identifiers.org/clinvar/31108 ^@ NM_201269.2(ZNF644):c.1759A>G (p.Ile587Val) http://identifiers.org/clinvar/31109 ^@ NM_201269.2(ZNF644):c.*592G>A http://identifiers.org/clinvar/31110 ^@ NM_018699.3(PRDM5):c.946_1623del http://identifiers.org/clinvar/31111 ^@ NM_018699.3(PRDM5):c.1768C>T (p.Arg590Ter) http://identifiers.org/clinvar/31112 ^@ PRDM5, IVS1DS, G-A, +1 http://identifiers.org/clinvar/31113 ^@ NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys) http://identifiers.org/clinvar/31114 ^@ PRDM5, 1-BP DEL, 947G http://identifiers.org/clinvar/31115 ^@ PRDM5, IVS1DS, T-C, +2 http://identifiers.org/clinvar/31116 ^@ NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter) http://identifiers.org/clinvar/31117 ^@ NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter) http://identifiers.org/clinvar/31118 ^@ NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro) http://identifiers.org/clinvar/31119 ^@ NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val) http://identifiers.org/clinvar/31120 ^@ NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu) http://identifiers.org/clinvar/31121 ^@ NM_015175.2(NBEAL2):c.1823G>A (p.Trp608Ter) http://identifiers.org/clinvar/31122 ^@ NM_015175.2(NBEAL2):c.5413dupG (p.Ala1805Glyfs) http://identifiers.org/clinvar/31123 ^@ DIS3L2, 82.8-KB DEL, EX6DEL http://identifiers.org/clinvar/31124 ^@ DIS3L2, 22-KB DEL, EX9DEL http://identifiers.org/clinvar/31125 ^@ NM_152383.4(DIS3L2):c.1466G>A (p.Cys489Tyr) http://identifiers.org/clinvar/31126 ^@ DIS3L2, IVS19, G-A, +5 http://identifiers.org/clinvar/31127 ^@ DOCK6, 4-BP DEL, 1362AACT http://identifiers.org/clinvar/31128 ^@ DOCK6, 1-BP DUP, 1245T http://identifiers.org/clinvar/31129 ^@ NM_001198799.2(ASCC1):c.953A>G (p.Asn318Ser) http://identifiers.org/clinvar/31130 ^@ NM_000196.3(HSD11B2):c.664+14C>T http://identifiers.org/clinvar/31131 ^@ NM_000196.3(HSD11B2):c.1012T>C (p.Tyr338His) http://identifiers.org/clinvar/31132 ^@ NM_000196.3(HSD11B2):c.77_78delCA (p.Ser26Terfs) http://identifiers.org/clinvar/31133 ^@ OPLAH, 1-BP INS, 2601C http://identifiers.org/clinvar/31134 ^@ NM_174917.4(ACSF3):c.1672C>T (p.Arg558Trp) http://identifiers.org/clinvar/31135 ^@ NM_174917.4(ACSF3):c.1567C>T (p.Arg523Ter) http://identifiers.org/clinvar/31136 ^@ NM_174917.4(ACSF3):c.1075G>A (p.Glu359Lys) http://identifiers.org/clinvar/31137 ^@ NM_174917.4(ACSF3):c.1411C>T (p.Arg471Trp) http://identifiers.org/clinvar/31138 ^@ NM_174917.4(ACSF3):c.1412G>A (p.Arg471Gln) http://identifiers.org/clinvar/31139 ^@ NM_174917.4(ACSF3):c.1073C>T (p.Thr358Ile) http://identifiers.org/clinvar/31140 ^@ NM_174917.4(ACSF3):c.728C>T (p.Pro243Leu) http://identifiers.org/clinvar/31141 ^@ NM_174917.4(ACSF3):c.593T>G (p.Met198Arg) http://identifiers.org/clinvar/31142 ^@ ACSF3, LYS462THR AND GLY465_GLY470 DEL http://identifiers.org/clinvar/31143 ^@ NM_007055.3(POLR3A):c.2015G>A (p.Gly672Glu) http://identifiers.org/clinvar/31144 ^@ NM_007055.3(POLR3A):c.1909+18G>A http://identifiers.org/clinvar/31145 ^@ NM_007055.3(POLR3A):c.2554A>G (p.Met852Val) http://identifiers.org/clinvar/31146 ^@ NM_007055.3(POLR3A):c.2617-1G>A http://identifiers.org/clinvar/31147 ^@ NM_007055.3(POLR3A):c.418C>T (p.Arg140Ter) http://identifiers.org/clinvar/31148 ^@ NM_007055.3(POLR3A):c.2690T>A (p.Ile897Asn) http://identifiers.org/clinvar/31149 ^@ NM_007055.3(POLR3A):c.3013C>T (p.Arg1005Cys) http://identifiers.org/clinvar/31150 ^@ NM_152498.3(CFAP57):c.1567G>T (p.Asp523Tyr) http://identifiers.org/clinvar/31151 ^@ NM_001256054.1(C9orf72):c.-45+163_-45+168GGGGCC[(24_?)] http://identifiers.org/clinvar/31152 ^@ NM_138426.3(GLCCI1):c.-559-547G= http://identifiers.org/clinvar/31153 ^@ NM_001080512.2(BICC1):c.259C>T (p.Gln87Ter) http://identifiers.org/clinvar/31154 ^@ NM_001080512.2(BICC1):c.2795A>G (p.Glu932Gly) http://identifiers.org/clinvar/31155 ^@ C19ORF12, 11-BP DEL, NT204 http://identifiers.org/clinvar/31156 ^@ NM_001031726.3(C19orf12):c.32C>T (p.Thr11Met) http://identifiers.org/clinvar/31157 ^@ C19ORF12, GLY69ARG http://identifiers.org/clinvar/31158 ^@ NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) http://identifiers.org/clinvar/31159 ^@ METTL19, GLY400ALA http://identifiers.org/clinvar/31160 ^@ NM_018082.5(POLR3B):c.1857-2A>C http://identifiers.org/clinvar/31161 ^@ NM_018082.5(POLR3B):c.2303G>A (p.Arg768His) http://identifiers.org/clinvar/31162 ^@ NM_018082.5(POLR3B):c.1648C>T (p.Arg550Ter) http://identifiers.org/clinvar/31163 ^@ NM_018082.5(POLR3B):c.2778C>G (p.Asp926Glu) http://identifiers.org/clinvar/31164 ^@ NM_018082.5(POLR3B):c.1508C>A (p.Thr503Lys) http://identifiers.org/clinvar/31165 ^@ NM_018082.5(POLR3B):c.1533delT (p.Ile511Metfs) http://identifiers.org/clinvar/31166 ^@ NM_018082.5(POLR3B):c.1568T>A (p.Val523Glu) http://identifiers.org/clinvar/31167 ^@ NM_018082.5(POLR3B):c.2686A>T (p.Lys896Ter) http://identifiers.org/clinvar/31168 ^@ PRRT2, 1-BP DUP, 649C http://identifiers.org/clinvar/31169 ^@ NM_145239.2(PRRT2):c.514_517delTCTG (p.Ser172Argfs) http://identifiers.org/clinvar/31170 ^@ NM_145239.2(PRRT2):c.972delA (p.Val325Serfs) http://identifiers.org/clinvar/31171 ^@ NM_145239.2(PRRT2):c.629dupC (p.Ala211Serfs) http://identifiers.org/clinvar/31172 ^@ NM_145239.2(PRRT2):c.950G>A (p.Ser317Asn) http://identifiers.org/clinvar/31173 ^@ PRRT2, IVS2DS, G-A, +5 http://identifiers.org/clinvar/31174 ^@ NM_145239.2(PRRT2):c.718C>T (p.Arg240Ter) http://identifiers.org/clinvar/31175 ^@ NM_145239.2(PRRT2):c.516dupT (p.Glu173Terfs) http://identifiers.org/clinvar/31176 ^@ NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter) http://identifiers.org/clinvar/31177 ^@ NM_145239.2(PRRT2):c.796C>T (p.Arg266Trp) http://identifiers.org/clinvar/31178 ^@ NM_024599.5(RHBDF2):c.557T>C (p.Ile186Thr) http://identifiers.org/clinvar/31179 ^@ NM_024599.5(RHBDF2):c.566C>T (p.Pro189Leu) http://identifiers.org/clinvar/31180 ^@ NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter) http://identifiers.org/clinvar/31181 ^@ NM_001044385.2(TMEM237):c.677+1G>T http://identifiers.org/clinvar/31182 ^@ NM_001044385.2(TMEM237):c.1066dupC (p.Gln356Profs) http://identifiers.org/clinvar/31183 ^@ NM_001044385.2(TMEM237):c.76C>T (p.Gln26Ter) http://identifiers.org/clinvar/31184 ^@ NM_001044385.2(TMEM237):c.943+1G>T http://identifiers.org/clinvar/31185 ^@ NM_005786.5(TSHZ1):c.946_947insA (p.Pro316Hisfs) http://identifiers.org/clinvar/31186 ^@ NM_005786.5(TSHZ1):c.723G>A (p.Trp241Ter) http://identifiers.org/clinvar/31187 ^@ TMEM138, IVS2DS, G-A, +5 http://identifiers.org/clinvar/31188 ^@ NM_016464.4(TMEM138):c.287A>G (p.His96Arg) http://identifiers.org/clinvar/31189 ^@ NM_016464.4(TMEM138):c.380C>T (p.Ala127Val) http://identifiers.org/clinvar/31190 ^@ NM_016464.4(TMEM138):c.376G>A (p.Ala126Thr) http://identifiers.org/clinvar/31191 ^@ NM_016464.4(TMEM138):c.389A>G (p.Tyr130Cys) http://identifiers.org/clinvar/31192 ^@ C8ORF37, LEU166TER http://identifiers.org/clinvar/31193 ^@ C8ORF37, IVS1, A-G, -2 http://identifiers.org/clinvar/31194 ^@ NM_177965.3(C8orf37):c.529C>T (p.Arg177Trp) http://identifiers.org/clinvar/31195 ^@ NM_177965.3(C8orf37):c.545A>G (p.Gln182Arg) http://identifiers.org/clinvar/31196 ^@ NM_001257133.1(COX14):c.57G>A (p.Met19Ile) http://identifiers.org/clinvar/31197 ^@ FKBP14, 1-BP INS, 362C http://identifiers.org/clinvar/31198 ^@ FKBP14, 19-BP DEL, NT42 http://identifiers.org/clinvar/31199 ^@ NM_152743.3(BRAT1):c.638dupA (p.Val214Glyfs) http://identifiers.org/clinvar/31200 ^@ NM_001004334.3(GPR179):c.1807C>T (p.His603Tyr) http://identifiers.org/clinvar/31201 ^@ NM_001004334.3(GPR179):c.278delC (p.Pro93Glnfs) http://identifiers.org/clinvar/31202 ^@ NM_001004334.3(GPR179):c.598C>T (p.Arg200Ter) http://identifiers.org/clinvar/31203 ^@ NM_001004334.3(GPR179):c.1784+1G>A http://identifiers.org/clinvar/31204 ^@ NM_001004334.3(GPR179):c.984delC (p.Ser329Leufs) http://identifiers.org/clinvar/31205 ^@ NM_001004334.3(GPR179):c.187delC (p.Leu63Serfs) http://identifiers.org/clinvar/31206 ^@ NM_001004334.3(GPR179):c.659A>G (p.Tyr220Cys) http://identifiers.org/clinvar/31207 ^@ NM_018838.4(NDUFA12):c.178C>T (p.Arg60Ter) http://identifiers.org/clinvar/31208 ^@ NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter) http://identifiers.org/clinvar/31209 ^@ NM_020732.3(ARID1B):c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs) http://identifiers.org/clinvar/31210 ^@ NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) http://identifiers.org/clinvar/31211 ^@ NM_020732.3(ARID1B):c.3323_3324delAA (p.Lys1108Argfs) http://identifiers.org/clinvar/31212 ^@ NM_020732.3(ARID1B):c.4038T>A (p.Tyr1346Ter) http://identifiers.org/clinvar/31213 ^@ NM_020732.3(ARID1B):c.1903C>T (p.Gln635Ter) http://identifiers.org/clinvar/31214 ^@ NM_020732.3(ARID1B):c.5632delG (p.Asp1878Metfs) http://identifiers.org/clinvar/31215 ^@ NM_020732.3(ARID1B):c.5329A>T (p.Lys1777Ter) http://identifiers.org/clinvar/31216 ^@ NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) http://identifiers.org/clinvar/31217 ^@ NM_020732.3(ARID1B):c.4619_4628delACCAGACGCC (p.Gln1541Argfs) http://identifiers.org/clinvar/31218 ^@ DIAPH3, -172G-A http://identifiers.org/clinvar/31219 ^@ NM_023073.3(C5orf42):c.4006C>T (p.Arg1336Trp) http://identifiers.org/clinvar/31220 ^@ NM_023073.3(C5orf42):c.7400+1G>A http://identifiers.org/clinvar/31221 ^@ NM_023073.3(C5orf42):c.6407delC (p.Pro2136Hisfs) http://identifiers.org/clinvar/31222 ^@ NM_023073.3(C5orf42):c.4804C>T (p.Arg1602Ter) http://identifiers.org/clinvar/31223 ^@ NM_023073.3(C5orf42):c.7477C>T (p.Arg2493Ter) http://identifiers.org/clinvar/31224 ^@ NM_023073.3(C5orf42):c.7957+288G>A http://identifiers.org/clinvar/31225 ^@ NM_024589.2(ROGDI):c.229_230delCT (p.Leu77Alafs) http://identifiers.org/clinvar/31226 ^@ NM_024589.2(ROGDI):c.286C>T (p.Gln96Ter) http://identifiers.org/clinvar/31227 ^@ NM_024589.2(ROGDI):c.531+5G>C http://identifiers.org/clinvar/31228 ^@ NM_024589.2(ROGDI):c.532-2A>T http://identifiers.org/clinvar/31229 ^@ NM_024589.2(ROGDI):c.469C>T (p.Arg157Ter) http://identifiers.org/clinvar/31230 ^@ TTC37, TRP936TER http://identifiers.org/clinvar/31231 ^@ TTC37, IVS28AS, G-A, -2 http://identifiers.org/clinvar/31232 ^@ TTC37, IVS17, 1-BP DEL, G, +1 http://identifiers.org/clinvar/31233 ^@ NM_014639.3(TTC37):c.439C>T (p.Gln147Ter) http://identifiers.org/clinvar/31234 ^@ NM_014639.3(TTC37):c.2251C>T (p.Gln751Ter) http://identifiers.org/clinvar/31235 ^@ TTC37, IVS23DS, G-C, +1 http://identifiers.org/clinvar/31236 ^@ NG_023414.1:g.43590_43594delTTTTT http://identifiers.org/clinvar/31237 ^@ TTC37, IVS42DS, G-C, +1 http://identifiers.org/clinvar/31238 ^@ NM_001039213.3(CEACAM16):c.418A>C (p.Thr140Pro) http://identifiers.org/clinvar/31527 ^@ NM_021034.2(IFITM3):c.42T>C (p.Ser14=) http://identifiers.org/clinvar/31528 ^@ FERMT3, IVS2AS, A-C, -2 http://identifiers.org/clinvar/31529 ^@ NM_058246.3(DNAJB6):c.279C>G (p.Phe93Leu) http://identifiers.org/clinvar/31530 ^@ NM_058246.3(DNAJB6):c.279C>A (p.Phe93Leu) http://identifiers.org/clinvar/31531 ^@ NM_058246.3(DNAJB6):c.265T>A (p.Phe89Ile) http://identifiers.org/clinvar/31532 ^@ NM_001256714.1(DNAAF3):c.386T>C (p.Leu129Pro) http://identifiers.org/clinvar/31533 ^@ NM_001256714.1(DNAAF3):c.469C>T (p.Arg157Ter) http://identifiers.org/clinvar/31534 ^@ NM_001256714.1(DNAAF3):c.825dupT (p.Val276Cysfs) http://identifiers.org/clinvar/31539 ^@ NM_000824.4(GLRB):c.596T>G (p.Met199Arg) http://identifiers.org/clinvar/31540 ^@ NM_004211.4(SLC6A5):c.1530T>G (p.Ser510Arg) http://identifiers.org/clinvar/31541 ^@ NM_001099274.1(TINF2):c.805C>T (p.Gln269Ter) http://identifiers.org/clinvar/31542 ^@ TINF2, 1-BP DEL, 839A http://identifiers.org/clinvar/31543 ^@ NM_001099274.1(TINF2):c.811C>T (p.Gln271Ter) http://identifiers.org/clinvar/31544 ^@ NM_017415.2(KLHL3):c.1193C>T (p.Ala398Val) http://identifiers.org/clinvar/31545 ^@ KLHL3, ASN529LYS http://identifiers.org/clinvar/31546 ^@ NM_017415.2(KLHL3):c.1277C>T (p.Pro426Leu) http://identifiers.org/clinvar/31547 ^@ NM_002834.4(PTPN11):c.409_413delGTACG (p.Val137Argfs) http://identifiers.org/clinvar/31548 ^@ NM_002834.4(PTPN11):c.458_468delCTGGTGATGACinsAAGAACACAGGGGAGAGCAATGAC (p.Thr153Lysfs) http://identifiers.org/clinvar/31549 ^@ NM_002834.4(PTPN11):c.353_354delCT (p.Ser118Trpfs) http://identifiers.org/clinvar/31550 ^@ NM_002834.4(PTPN11):c.1516C>T (p.Gln506Ter) http://identifiers.org/clinvar/31551 ^@ NM_002834.4(PTPN11):c.1315delC (p.Leu439Trpfs) http://identifiers.org/clinvar/31552 ^@ NM_002834.4(PTPN11):c.643-2A>C http://identifiers.org/clinvar/31553 ^@ NM_002834.4(PTPN11):c.295A>T (p.Lys99Ter) http://identifiers.org/clinvar/31554 ^@ NM_002834.4(PTPN11):c.1093-1G>T http://identifiers.org/clinvar/31555 ^@ NG_007459.1:g.45924_60608delinsCA http://identifiers.org/clinvar/31556 ^@ NM_058216.2(RAD51C):c.397C>T (p.Gln133Ter) http://identifiers.org/clinvar/31557 ^@ NM_058216.2(RAD51C):c.230delG (p.Gly77Valfs) http://identifiers.org/clinvar/31561 ^@ NM_001101426.3(ISPD):c.1120-1G>T http://identifiers.org/clinvar/31562 ^@ NM_001101426.3(ISPD):c.(535_684)+6399_(535_684)+14526del http://identifiers.org/clinvar/31563 ^@ NM_001101426.3(ISPD):c.789+2T>G http://identifiers.org/clinvar/31564 ^@ NM_001101426.3(ISPD):c.277_279delATT (p.Ile93del) http://identifiers.org/clinvar/31565 ^@ NM_001101426.3(ISPD):c.647C>A (p.Ala216Asp) http://identifiers.org/clinvar/31566 ^@ NM_001101426.3(ISPD):c.832A>T (p.Lys278Ter) http://identifiers.org/clinvar/31567 ^@ NM_001101426.3(ISPD):c.364G>C (p.Ala122Pro) http://identifiers.org/clinvar/31568 ^@ NM_001101426.3(ISPD):c.802C>T (p.Arg268Ter) http://identifiers.org/clinvar/31569 ^@ NM_020894.3(UVSSA):c.367A>T (p.Lys123Ter) http://identifiers.org/clinvar/31570 ^@ UVSSA, 1-BP DEL, 87G http://identifiers.org/clinvar/31571 ^@ NM_020894.3(UVSSA):c.94T>C (p.Cys32Arg) http://identifiers.org/clinvar/31574 ^@ NM_002048.2(GAS1):c.599C>G (p.Thr200Arg) http://identifiers.org/clinvar/31575 ^@ NM_002048.2(GAS1):c.776G>A (p.Gly259Glu) http://identifiers.org/clinvar/31576 ^@ NM_004453.3(ETFDH):c.524G>A (p.Arg175His) http://identifiers.org/clinvar/31577 ^@ USH1G, 15-BP DEL, NT163 http://identifiers.org/clinvar/31578 ^@ NM_000124.3(ERCC6):c.3862C>T (p.Arg1288Ter) http://identifiers.org/clinvar/31580 ^@ DCAF17, TRP129TER http://identifiers.org/clinvar/31581 ^@ DCAF17, TRP302TER http://identifiers.org/clinvar/31582 ^@ DCAF17, SER114TER http://identifiers.org/clinvar/31583 ^@ DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA http://identifiers.org/clinvar/31584 ^@ NM_004285.3(H6PD):c.960G>A (p.Val320=) http://identifiers.org/clinvar/31585 ^@ NM_004285.3(H6PD):c.1076G>A (p.Gly359Asp) http://identifiers.org/clinvar/31586 ^@ NM_004285.3(H6PD):c.948C>G (p.Tyr316Ter) http://identifiers.org/clinvar/31587 ^@ NM_004285.3(H6PD):c.325delC (p.Arg109Alafs) http://identifiers.org/clinvar/31588 ^@ NM_181755.2(HSD11B1):c.409C>T (p.Arg137Cys) http://identifiers.org/clinvar/31589 ^@ HSD11B1, LYS187ASN http://identifiers.org/clinvar/31590 ^@ NM_001160223.1(RNF170):c.595C>T (p.Arg199Cys) http://identifiers.org/clinvar/31592 ^@ NM_025237.2(SOST):c.61G>A (p.Val21Met) http://identifiers.org/clinvar/31593 ^@ SOST, VAL21LEU http://identifiers.org/clinvar/31594 ^@ COQ6, GLY255ARG http://identifiers.org/clinvar/31595 ^@ NM_182476.2(COQ6):c.1058C>A (p.Ala353Asp) http://identifiers.org/clinvar/31596 ^@ COQ6, TRP447TER http://identifiers.org/clinvar/31597 ^@ COQ6, 1-BP DEL, 1383G http://identifiers.org/clinvar/31598 ^@ NM_182476.2(COQ6):c.484C>T (p.Arg162Ter) http://identifiers.org/clinvar/31599 ^@ COQ6, TRP188TER http://identifiers.org/clinvar/31601 ^@ NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro) http://identifiers.org/clinvar/31602 ^@ NM_004453.3(ETFDH):c.1448C>T (p.Pro483Leu) http://identifiers.org/clinvar/31603 ^@ NM_000392.4(ABCC2):c.3196C>T (p.Arg1066Ter) http://identifiers.org/clinvar/31604 ^@ NM_004963.3(GUCY2C):c.1160A>G (p.Asp387Gly) http://identifiers.org/clinvar/31605 ^@ NM_004963.3(GUCY2C):c.2270dupA (p.Asn757Lysfs) http://identifiers.org/clinvar/31606 ^@ NM_024110.4(CARD14):c.349G>A (p.Gly117Ser) http://identifiers.org/clinvar/31607 ^@ NM_024110.4(CARD14):c.349+5G>A http://identifiers.org/clinvar/31608 ^@ NM_024110.4(CARD14):c.425A>G (p.Glu142Gly) http://identifiers.org/clinvar/31609 ^@ NM_024110.4(CARD14):c.413A>C (p.Glu138Ala) http://identifiers.org/clinvar/31610 ^@ NM_024110.4(CARD14):c.424G>A (p.Glu142Lys) http://identifiers.org/clinvar/31611 ^@ NM_001163809.1(WDR81):c.2567C>T (p.Pro856Leu) http://identifiers.org/clinvar/31619 ^@ NM_015548.4(DST):c.13887delA (p.Ala4630Leufs) http://identifiers.org/clinvar/31621 ^@ NM_000550.2(TYRP1):c.277C>T (p.Arg93Cys) http://identifiers.org/clinvar/31622 ^@ NM_015166.3(MLC1):c.206C>T (p.Ser69Leu) http://identifiers.org/clinvar/31623 ^@ NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del http://identifiers.org/clinvar/31624 ^@ NM_024306.4(FA2H):c.707T>C (p.Phe236Ser) http://identifiers.org/clinvar/31625 ^@ NG_017070.1:g.(39810_52446)_(66877_?)del http://identifiers.org/clinvar/31626 ^@ NM_001256047.1(C19orf12):c.362T>A (p.Leu121Gln) http://identifiers.org/clinvar/31627 ^@ LTBP2, 1-BP DUP, 1796C http://identifiers.org/clinvar/31628 ^@ LTBP2, 1-BP DEL, 1012T http://identifiers.org/clinvar/31629 ^@ NM_000428.2(LTBP2):c.4855C>T (p.Gln1619Ter) http://identifiers.org/clinvar/31630 ^@ NM_000428.2(LTBP2):c.4313G>A (p.Cys1438Tyr) http://identifiers.org/clinvar/31631 ^@ NM_018105.2(THAP1):c.70A>G (p.Lys24Glu) http://identifiers.org/clinvar/31632 ^@ NM_018105.2(THAP1):c.68A>C (p.His23Pro) http://identifiers.org/clinvar/31635 ^@ NM_004949.4(DSC2):c.1841delG (p.Ser614Ilefs) http://identifiers.org/clinvar/31636 ^@ NM_006496.3(GNAI3):c.118G>C (p.Gly40Arg) http://identifiers.org/clinvar/31637 ^@ NM_000933.3(PLCB4):c.1868A>G (p.Tyr623Cys) http://identifiers.org/clinvar/31638 ^@ NM_001172646.1(PLCB4):c.986A>G (p.Asn329Ser) http://identifiers.org/clinvar/31639 ^@ NM_000933.3(PLCB4):c.1862G>A (p.Arg621His) http://identifiers.org/clinvar/31640 ^@ NM_000933.3(PLCB4):c.1861C>T (p.Arg621Cys) http://identifiers.org/clinvar/31641 ^@ NM_000933.3(PLCB4):c.1948A>C (p.Asn650His) http://identifiers.org/clinvar/31642 ^@ NM_004247.3(EFTUD2):c.2496C>G (p.Tyr832Ter) http://identifiers.org/clinvar/31643 ^@ NM_001004127.2(ALG11):c.623_642del20 (p.Ser208Tyrfs) http://identifiers.org/clinvar/31644 ^@ NM_001004127.2(ALG11):c.836A>C (p.Tyr279Ser) http://identifiers.org/clinvar/31645 ^@ NM_001004127.2(ALG11):c.1142T>C (p.Leu381Ser) http://identifiers.org/clinvar/31646 ^@ NM_001004127.2(ALG11):c.1192G>A (p.Glu398Lys) http://identifiers.org/clinvar/31647 ^@ NM_001004127.2(ALG11):c.953A>C (p.Gln318Pro) http://identifiers.org/clinvar/31650 ^@ NM_005850.4(SF3B4):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/31651 ^@ NM_005850.4(SF3B4):c.1147dupC (p.His383Profs) http://identifiers.org/clinvar/31652 ^@ NM_005850.4(SF3B4):c.1147delC (p.His383Metfs) http://identifiers.org/clinvar/31653 ^@ NM_005850.4(SF3B4):c.913+1G>A http://identifiers.org/clinvar/31656 ^@ NM_021167.4(GATAD1):c.304T>C (p.Ser102Pro) http://identifiers.org/clinvar/31658 ^@ NM_000524.3(HTR1A):c.-480delA http://identifiers.org/clinvar/31659 ^@ NM_006947.3(SRP72):c.1064_1065delCA (p.Thr355Lysfs) http://identifiers.org/clinvar/31660 ^@ NM_006947.3(SRP72):c.620G>A (p.Arg207His) http://identifiers.org/clinvar/31661 ^@ NM_025009.4(CEP135):c.970delC (p.Gln324Serfs) http://identifiers.org/clinvar/31675 ^@ NM_017755.5(NSUN2):c.679C>T (p.Gln227Ter) http://identifiers.org/clinvar/31676 ^@ NM_017755.5(NSUN2):c.1114C>T (p.Gln372Ter) http://identifiers.org/clinvar/31677 ^@ NSUN2, IVS5, A-C http://identifiers.org/clinvar/31678 ^@ NM_017755.5(NSUN2):c.2035G>A (p.Gly679Arg) http://identifiers.org/clinvar/31679 ^@ NM_014714.3(IFT140):c.1990G>A (p.Glu664Lys) http://identifiers.org/clinvar/31680 ^@ NM_014714.3(IFT140):c.2399+1G>T http://identifiers.org/clinvar/31681 ^@ NM_014714.3(IFT140):c.932A>G (p.Tyr311Cys) http://identifiers.org/clinvar/31682 ^@ NM_014714.3(IFT140):c.857_860delTTGA (p.Ile286Lysfs) http://identifiers.org/clinvar/31683 ^@ NM_014714.3(IFT140):c.634G>A (p.Gly212Arg) http://identifiers.org/clinvar/31684 ^@ NM_014714.3(IFT140):c.3916dupG (p.Ala1306Glyfs) http://identifiers.org/clinvar/31687 ^@ NM_003070.4(SMARCA2):c.3395G>A (p.Gly1132Asp) http://identifiers.org/clinvar/31688 ^@ NM_016042.3(EXOSC3):c.395A>C (p.Asp132Ala) http://identifiers.org/clinvar/31689 ^@ NM_016042.3(EXOSC3):c.415G>C (p.Ala139Pro) http://identifiers.org/clinvar/31690 ^@ NM_016042.3(EXOSC3):c.294_303delTGTTTACTGG (p.Val99Trpfs) http://identifiers.org/clinvar/31691 ^@ NM_016042.3(EXOSC3):c.92G>C (p.Gly31Ala) http://identifiers.org/clinvar/31692 ^@ NM_016042.3(EXOSC3):c.712T>C (p.Trp238Arg) http://identifiers.org/clinvar/31693 ^@ NM_001193466.1(KANSL1):c.1816C>T (p.Arg606Ter) http://identifiers.org/clinvar/31694 ^@ NM_001193466.1(KANSL1):c.2785_2786delAG (p.Arg929Glyfs) http://identifiers.org/clinvar/31695 ^@ NM_001193466.1(KANSL1):c.916C>T (p.Gln306Ter) http://identifiers.org/clinvar/31696 ^@ NM_001193466.1(KANSL1):c.1652+1G>A http://identifiers.org/clinvar/31697 ^@ NM_213607.2(CCDC103):c.383dupG (p.Pro129Serfs) http://identifiers.org/clinvar/31698 ^@ NM_213607.2(CCDC103):c.461A>C (p.His154Pro) http://identifiers.org/clinvar/31704 ^@ DFNB31, 1-BP DEL, 737C http://identifiers.org/clinvar/31705 ^@ DFNB31, 1-BP DUP, 680G http://identifiers.org/clinvar/31706 ^@ NM_033337.2(CAV3):c.*645A>T http://identifiers.org/clinvar/31707 ^@ NM_033337.2(CAV3):c.*811C>G http://identifiers.org/clinvar/31708 ^@ NM_033337.2(CAV3):c.169G>A (p.Val57Met) http://identifiers.org/clinvar/31709 ^@ NM_033337.2(CAV3):c.99C>T (p.Asn33=) http://identifiers.org/clinvar/31710 ^@ NM_033337.2(CAV3):c.168C>A (p.Gly56=) http://identifiers.org/clinvar/31711 ^@ NM_033337.2(CAV3):c.204C>A (p.Ser68=) http://identifiers.org/clinvar/31712 ^@ NM_033337.2(CAV3):c.85C>A (p.Pro29Thr) http://identifiers.org/clinvar/31713 ^@ NM_033337.2(CAV3):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/31714 ^@ NM_033337.2(CAV3):c.171G>A (p.Val57=) http://identifiers.org/clinvar/31715 ^@ NM_033337.2(CAV3):c.190A>C (p.Thr64Pro) http://identifiers.org/clinvar/31716 ^@ NM_033337.2(CAV3):c.27C>T (p.Leu9=) http://identifiers.org/clinvar/31717 ^@ NM_033337.2(CAV3):c.123T>C (p.Phe41=) http://identifiers.org/clinvar/31718 ^@ NM_033337.2(CAV3):c.*543T>C http://identifiers.org/clinvar/31719 ^@ NM_033337.2(CAV3):c.*740C>G http://identifiers.org/clinvar/31720 ^@ NM_033337.2(CAV3):c.*783A>G http://identifiers.org/clinvar/31721 ^@ NM_033337.2(CAV3):c.170T>G (p.Val57Gly) http://identifiers.org/clinvar/31722 ^@ NM_033337.2(CAV3):c.79C>G (p.Arg27Gly) http://identifiers.org/clinvar/31723 ^@ NM_033337.2(CAV3):c.114+26G>A http://identifiers.org/clinvar/31724 ^@ NM_033337.2(CAV3):c.114+99T>C http://identifiers.org/clinvar/31725 ^@ NM_033337.2(CAV3):c.115-89G>T http://identifiers.org/clinvar/31726 ^@ NM_033337.2(CAV3):c.-77-45C>T http://identifiers.org/clinvar/31727 ^@ NM_033337.2(CAV3):c.*898+34T>A http://identifiers.org/clinvar/31728 ^@ NM_033337.2(CAV3):c.*898+39C>A http://identifiers.org/clinvar/31729 ^@ NM_033337.2(CAV3):c.183C>A (p.Ser61Arg) http://identifiers.org/clinvar/31730 ^@ NM_033337.2(CAV3):c.100G>A (p.Glu34Lys) http://identifiers.org/clinvar/31731 ^@ NM_033337.2(CAV3):c.298A>T (p.Ile100Phe) http://identifiers.org/clinvar/31732 ^@ NM_033337.2(CAV3):c.131T>A (p.Val44Glu) http://identifiers.org/clinvar/31733 ^@ NM_033337.2(CAV3):c.157A>G (p.Ser53Gly) http://identifiers.org/clinvar/31734 ^@ NM_033337.2(CAV3):c.301T>C (p.Trp101Arg) http://identifiers.org/clinvar/31735 ^@ NM_033337.2(CAV3):c.172T>C (p.Trp58Arg) http://identifiers.org/clinvar/31736 ^@ NM_033337.2(CAV3):c.115-45_115-29del17 http://identifiers.org/clinvar/31737 ^@ NM_033337.2(CAV3):c.115-23G>C http://identifiers.org/clinvar/31738 ^@ NM_033337.2(CAV3):c.137C>A (p.Ala46Glu) http://identifiers.org/clinvar/31739 ^@ NM_033337.2(CAV3):c.-37G>A http://identifiers.org/clinvar/31740 ^@ NM_033337.2(CAV3):c.114+2T>C http://identifiers.org/clinvar/31741 ^@ NM_033337.2(CAV3):c.212G>A (p.Trp71Ter) http://identifiers.org/clinvar/31742 ^@ NM_033337.2(CAV3):c.307_312delGTGGTG (p.Val103_Val104del) http://identifiers.org/clinvar/31743 ^@ NM_033337.2(CAV3):c.158G>A (p.Ser53Asn) http://identifiers.org/clinvar/31744 ^@ NM_033337.2(CAV3):c.140A>C (p.Glu47Ala) http://identifiers.org/clinvar/31745 ^@ NM_033337.2(CAV3):c.141G>T (p.Glu47Asp) http://identifiers.org/clinvar/31746 ^@ NM_033337.2(CAV3):c.-77-29G>A http://identifiers.org/clinvar/31747 ^@ NM_033337.2(CAV3):c.80G>C (p.Arg27Pro) http://identifiers.org/clinvar/31748 ^@ NM_033337.2(CAV3):c.218A>G (p.Tyr73Cys) http://identifiers.org/clinvar/31749 ^@ NM_033337.2(CAV3):c.136G>T (p.Ala46Ser) http://identifiers.org/clinvar/31750 ^@ NM_033337.2(CAV3):c.(115-?)_(*898_?)del http://identifiers.org/clinvar/31751 ^@ NM_033337.2(CAV3):c.(?_-67)_(*898_?)del http://identifiers.org/clinvar/31752 ^@ NM_001165928.3(DAG1):c.41G>C (p.Trp14Ser) http://identifiers.org/clinvar/31753 ^@ NM_001165928.3(DAG1):c.285+42T>C http://identifiers.org/clinvar/31754 ^@ NM_001165928.3(DAG1):c.286-135G>A http://identifiers.org/clinvar/31755 ^@ NM_001165928.3(DAG1):c.2256C>T (p.His752=) http://identifiers.org/clinvar/31756 ^@ NM_001165928.3(DAG1):c.1773C>T (p.Phe591=) http://identifiers.org/clinvar/31757 ^@ NM_001165928.3(DAG1):c.*250T>C http://identifiers.org/clinvar/31758 ^@ NM_001165928.3(DAG1):c.*830G>T http://identifiers.org/clinvar/31759 ^@ NM_001165928.3(DAG1):c.*1508A>G http://identifiers.org/clinvar/31760 ^@ NM_001165928.3(DAG1):c.*2262C>T http://identifiers.org/clinvar/31761 ^@ NM_001165928.3(DAG1):c.-116-291T>G http://identifiers.org/clinvar/31762 ^@ NM_001165928.3(DAG1):c.575C>T (p.Thr192Met) http://identifiers.org/clinvar/31763 ^@ NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del http://identifiers.org/clinvar/31764 ^@ NM_153741.1(DPM3):c.-35-78T>G http://identifiers.org/clinvar/31765 ^@ NM_153741.1(DPM3):c.-35-108C>A http://identifiers.org/clinvar/31766 ^@ NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) http://identifiers.org/clinvar/31767 ^@ NM_000432.3(MYL2):c.354-2A>G http://identifiers.org/clinvar/31768 ^@ NM_000432.3(MYL2):c.403-1G>C http://identifiers.org/clinvar/31769 ^@ NM_000432.3(MYL2):c.497A>T (p.Asp166Val) http://identifiers.org/clinvar/31770 ^@ NM_000432.3(MYL2):c.310A>G (p.Lys104Glu) http://identifiers.org/clinvar/31771 ^@ NM_000432.3(MYL2):c.132T>C (p.Ile44=) http://identifiers.org/clinvar/31772 ^@ NM_000432.3(MYL2):c.353+20delG http://identifiers.org/clinvar/31773 ^@ NM_000432.3(MYL2):c.274+1G>C http://identifiers.org/clinvar/31774 ^@ NM_000432.3(MYL2):c.353+51C>T http://identifiers.org/clinvar/31775 ^@ NM_000432.3(MYL2):c.353+46dupC http://identifiers.org/clinvar/31776 ^@ NM_000258.2(MYL3):c.167A>G (p.Glu56Gly) http://identifiers.org/clinvar/31777 ^@ NM_000258.2(MYL3):c.281G>A (p.Arg94His) http://identifiers.org/clinvar/31778 ^@ NM_000258.2(MYL3):c.466G>A (p.Val156Met) http://identifiers.org/clinvar/31779 ^@ NM_000258.2(MYL3):c.517A>G (p.Met173Val) http://identifiers.org/clinvar/31780 ^@ NM_000258.2(MYL3):c.170C>G (p.Ala57Gly) http://identifiers.org/clinvar/31781 ^@ NM_000258.2(MYL3):c.559+6C>T http://identifiers.org/clinvar/31782 ^@ NM_000258.2(MYL3):c.454G>A (p.Glu152Lys) http://identifiers.org/clinvar/31783 ^@ NM_000258.2(MYL3):c.463C>G (p.His155Asp) http://identifiers.org/clinvar/31784 ^@ NM_000258.2(MYL3):c.382G>T (p.Gly128Cys) http://identifiers.org/clinvar/31785 ^@ NM_016599.4(MYOZ2):c.-87A>G http://identifiers.org/clinvar/31786 ^@ NM_016599.4(MYOZ2):c.459A>G (p.Glu153=) http://identifiers.org/clinvar/31787 ^@ NM_016599.4(MYOZ2):c.247-18A>G http://identifiers.org/clinvar/31788 ^@ NM_016599.4(MYOZ2):c.237A>G (p.Ala79=) http://identifiers.org/clinvar/31789 ^@ NM_032578.3(MYPN):c.248delT (p.Ile83Thrfs) http://identifiers.org/clinvar/31790 ^@ NM_032578.3(MYPN):c.3263G>A (p.Arg1088His) http://identifiers.org/clinvar/31791 ^@ NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) http://identifiers.org/clinvar/31792 ^@ NM_032578.3(MYPN):c.3583G>A (p.Val1195Met) http://identifiers.org/clinvar/31793 ^@ NM_032578.3(MYPN):c.1178T>C (p.Val393Ala) http://identifiers.org/clinvar/31794 ^@ NM_032578.3(MYPN):c.1251G>A (p.Gln417=) http://identifiers.org/clinvar/31795 ^@ NM_032578.3(MYPN):c.1647T>C (p.Ser549=) http://identifiers.org/clinvar/31796 ^@ NM_032578.3(MYPN):c.1875C>T (p.Pro625=) http://identifiers.org/clinvar/31797 ^@ NM_032578.3(MYPN):c.2072G>A (p.Ser691Asn) http://identifiers.org/clinvar/31798 ^@ NM_032578.3(MYPN):c.2120G>A (p.Ser707Asn) http://identifiers.org/clinvar/31799 ^@ NM_032578.3(MYPN):c.2886C= (p.Val962=) http://identifiers.org/clinvar/31800 ^@ NM_032578.3(MYPN):c.3403C>A (p.Pro1135Thr) http://identifiers.org/clinvar/31801 ^@ NM_032578.3(MYPN):c.420T>C (p.Tyr140=) http://identifiers.org/clinvar/31802 ^@ NM_032578.3(MYPN):c.1662A>C (p.Ala554=) http://identifiers.org/clinvar/31803 ^@ NM_032578.3(MYPN):c.1869C>A (p.Thr623=) http://identifiers.org/clinvar/31804 ^@ NM_032578.3(MYPN):c.1884C>G (p.Phe628Leu) http://identifiers.org/clinvar/31805 ^@ NM_032578.3(MYPN):c.1935C>T (p.Pro645=) http://identifiers.org/clinvar/31806 ^@ NM_032578.3(MYPN):c.2163C>A (p.Ala721=) http://identifiers.org/clinvar/31807 ^@ NM_032578.3(MYPN):c.2190G>A (p.Thr730=) http://identifiers.org/clinvar/31808 ^@ NM_032578.3(MYPN):c.2409C>G (p.Ser803Arg) http://identifiers.org/clinvar/31809 ^@ NM_032578.3(MYPN):c.2410G>A (p.Gly804Arg) http://identifiers.org/clinvar/31810 ^@ NM_032578.3(MYPN):c.2642A>T (p.Asn881Ile) http://identifiers.org/clinvar/31811 ^@ NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) http://identifiers.org/clinvar/31812 ^@ NM_032578.3(MYPN):c.458A>G (p.Lys153Arg) http://identifiers.org/clinvar/31813 ^@ NM_032578.3(MYPN):c.650C>A (p.Ala217Glu) http://identifiers.org/clinvar/31814 ^@ NM_032578.3(MYPN):c.3793G>C (p.Ala1265Pro) http://identifiers.org/clinvar/31815 ^@ NM_032578.3(MYPN):c.1229T>C (p.Val410Ala) http://identifiers.org/clinvar/31816 ^@ NM_032578.3(MYPN):c.1585C>T (p.Gln529Ter) http://identifiers.org/clinvar/31817 ^@ NM_032578.3(MYPN):c.2521C>A (p.Pro841Thr) http://identifiers.org/clinvar/31818 ^@ NM_032578.3(MYPN):c.2653C>T (p.Arg885Ter) http://identifiers.org/clinvar/31819 ^@ NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) http://identifiers.org/clinvar/31820 ^@ NM_032578.3(MYPN):c.637A>G (p.Ile213Val) http://identifiers.org/clinvar/31821 ^@ NM_032578.3(MYPN):c.2644G>A (p.Ala882Thr) http://identifiers.org/clinvar/31822 ^@ NM_032578.3(MYPN):c.1016A>T (p.Tyr339Phe) http://identifiers.org/clinvar/31823 ^@ NM_032578.3(MYPN):c.1831G>A (p.Ala611Thr) http://identifiers.org/clinvar/31824 ^@ NM_032578.3(MYPN):c.2862C>A (p.Phe954Leu) http://identifiers.org/clinvar/31825 ^@ NM_032578.3(MYPN):c.465C>G (p.Ala155=) http://identifiers.org/clinvar/31826 ^@ NM_032578.3(MYPN):c.843A>G (p.Pro281=) http://identifiers.org/clinvar/31827 ^@ NM_032578.3(MYPN):c.1399G>A (p.Glu467Lys) http://identifiers.org/clinvar/31828 ^@ NM_032578.3(MYPN):c.1419T>C (p.Thr473=) http://identifiers.org/clinvar/31829 ^@ NM_032578.3(MYPN):c.1840G>A (p.Glu614Lys) http://identifiers.org/clinvar/31830 ^@ NM_032578.3(MYPN):c.2072G>C (p.Ser691Thr) http://identifiers.org/clinvar/31831 ^@ NM_032578.3(MYPN):c.2864G>A (p.Arg955Gln) http://identifiers.org/clinvar/31832 ^@ NM_032578.3(MYPN):c.3219A>G (p.Pro1073=) http://identifiers.org/clinvar/31833 ^@ NM_032578.3(MYPN):c.3417C>A (p.Arg1139=) http://identifiers.org/clinvar/31834 ^@ NM_032578.3(MYPN):c.3917T>G (p.Val1306Gly) http://identifiers.org/clinvar/31835 ^@ NM_032578.3(MYPN):c.1128T>C (p.Asn376=) http://identifiers.org/clinvar/31836 ^@ NM_032578.3(MYPN):c.1104C>T (p.Gly368=) http://identifiers.org/clinvar/31837 ^@ NM_014476.5(PDLIM3):c.177_178dupCA (p.Met60Thrfs) http://identifiers.org/clinvar/31838 ^@ NM_014476.5(PDLIM3):c.379G>A (p.Val127Met) http://identifiers.org/clinvar/31839 ^@ NM_014476.5(PDLIM3):c.734C>T (p.Thr245Ile) http://identifiers.org/clinvar/31840 ^@ NM_014476.5(PDLIM3):c.317A>C (p.Glu106Ala) http://identifiers.org/clinvar/31842 ^@ NM_000942.4(PPIB):c.414_423delGAGCATGGCC (p.Ser139Thrfs) http://identifiers.org/clinvar/31843 ^@ NM_000942.4(PPIB):c.120delC (p.Val42Serfs) http://identifiers.org/clinvar/31844 ^@ NM_000942.4(PPIB):c.313G>A (p.Gly105Arg) http://identifiers.org/clinvar/31845 ^@ NM_000942.4(PPIB):c.343+1G>A http://identifiers.org/clinvar/31846 ^@ NM_000942.4(PPIB):c.492C>G (p.Gly164=) http://identifiers.org/clinvar/31847 ^@ NM_000942.4(PPIB):c.324C>T (p.Thr108=) http://identifiers.org/clinvar/31848 ^@ NM_000942.4(PPIB):c.178G>T (p.Val60Leu) http://identifiers.org/clinvar/31849 ^@ NM_000942.4(PPIB):c.63C>A (p.Ser21=) http://identifiers.org/clinvar/31851 ^@ NM_002615.6(SERPINF1):c.696C>G (p.Tyr232Ter) http://identifiers.org/clinvar/31852 ^@ NM_002615.6(SERPINF1):c.324_325dupCT (p.Tyr109Serfs) http://identifiers.org/clinvar/31853 ^@ NM_002615.6(SERPINF1):c.1132C>T (p.Gln378Ter) http://identifiers.org/clinvar/31854 ^@ NM_152860.1(SP7):c.1052delA (p.Glu351Glyfs) http://identifiers.org/clinvar/31855 ^@ NM_003283.5(TNNT1):c.-20A>G http://identifiers.org/clinvar/31856 ^@ NM_003283.5(TNNT1):c.279A>G (p.Glu93=) http://identifiers.org/clinvar/31857 ^@ NM_003283.5(TNNT1):c.795G>T (p.Arg265=) http://identifiers.org/clinvar/31858 ^@ NM_003283.5(TNNT1):c.792-114C>T http://identifiers.org/clinvar/31859 ^@ NM_003283.5(TNNT1):c.792-278C>A http://identifiers.org/clinvar/31860 ^@ NM_003283.5(TNNT1):c.611+201C>T http://identifiers.org/clinvar/31861 ^@ NM_003283.5(TNNT1):c.193-88T>C http://identifiers.org/clinvar/31862 ^@ NM_003283.5(TNNT1):c.107-108G>T http://identifiers.org/clinvar/31863 ^@ NM_003283.5(TNNT1):c.47-13C>T http://identifiers.org/clinvar/31864 ^@ NM_003283.5(TNNT1):c.-12+30T>C http://identifiers.org/clinvar/31865 ^@ NM_003283.5(TNNT1):c.35A>G (p.Glu12Gly) http://identifiers.org/clinvar/31866 ^@ NM_006757.3(TNNT3):c.-18-482G>A http://identifiers.org/clinvar/31867 ^@ NM_006757.3(TNNT3):c.-18-379C>A http://identifiers.org/clinvar/31868 ^@ NM_006757.3(TNNT3):c.18-76A>G http://identifiers.org/clinvar/31869 ^@ NM_006757.3(TNNT3):c.32-149A>T http://identifiers.org/clinvar/31870 ^@ NM_006757.3(TNNT3):c.414G>A (p.Glu138=) http://identifiers.org/clinvar/31871 ^@ NM_006757.3(TNNT3):c.636T>C (p.Ile212=) http://identifiers.org/clinvar/31872 ^@ NM_006757.3(TNNT3):c.762C>T (p.Gly254=) http://identifiers.org/clinvar/31873 ^@ NM_006757.3(TNNT3):c.328C>T (p.Arg110Cys) http://identifiers.org/clinvar/31874 ^@ NM_006757.3(TNNT3):c.187C>T (p.Arg63Cys) http://identifiers.org/clinvar/31875 ^@ NM_001018005.1(TPM1):c.172G>C (p.Asp58His) http://identifiers.org/clinvar/31876 ^@ NM_001018005.1(TPM1):c.184G>C (p.Glu62Gln) http://identifiers.org/clinvar/31877 ^@ NM_001018005.1(TPM1):c.188C>T (p.Ala63Val) http://identifiers.org/clinvar/31878 ^@ NM_001018005.1(TPM1):c.209A>C (p.Lys70Thr) http://identifiers.org/clinvar/31879 ^@ NM_001018005.1(TPM1):c.515T>C (p.Ile172Thr) http://identifiers.org/clinvar/31880 ^@ NM_001018005.1(TPM1):c.539A>T (p.Glu180Val) http://identifiers.org/clinvar/31881 ^@ NM_001018005.1(TPM1):c.554T>G (p.Leu185Arg) http://identifiers.org/clinvar/31882 ^@ NM_001018005.1(TPM1):c.574G>A (p.Glu192Lys) http://identifiers.org/clinvar/31883 ^@ NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) http://identifiers.org/clinvar/31884 ^@ NM_001018005.1(TPM1):c.688G>A (p.Asp230Asn) http://identifiers.org/clinvar/31885 ^@ NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) http://identifiers.org/clinvar/31886 ^@ NM_001018005.1(TPM1):c.403C>A (p.Gln135Lys) http://identifiers.org/clinvar/31887 ^@ NM_001018005.1(TPM1):c.549T>G (p.Ala183=) http://identifiers.org/clinvar/31888 ^@ NM_001018005.1(TPM1):c.453C>A (p.Ala151=) http://identifiers.org/clinvar/31889 ^@ NM_001018005.1(TPM1):c.486T>C (p.Tyr162=) http://identifiers.org/clinvar/31890 ^@ NM_001018005.1(TPM1):c.241-12_241-11delCTinsTG http://identifiers.org/clinvar/31891 ^@ NM_001018005.1(TPM1):c.275T>C (p.Ile92Thr) http://identifiers.org/clinvar/31892 ^@ NM_001018005.1(TPM1):c.45G>T (p.Lys15Asn) http://identifiers.org/clinvar/31893 ^@ NM_001018005.1(TPM1):c.67G>C (p.Glu23Gln) http://identifiers.org/clinvar/31894 ^@ NM_001018005.1(TPM1):c.240+4470G>T http://identifiers.org/clinvar/31895 ^@ NM_001018005.1(TPM1):c.715G>A (p.Ala239Thr) http://identifiers.org/clinvar/31896 ^@ NM_001018005.1(TPM1):c.830C>T (p.Ala277Val) http://identifiers.org/clinvar/31897 ^@ NM_001018005.1(TPM1):c.109A>G (p.Lys37Glu) http://identifiers.org/clinvar/31898 ^@ NM_001018005.1(TPM1):c.850A>G (p.Ile284Val) http://identifiers.org/clinvar/31899 ^@ NM_001018005.1(TPM1):c.479G>A (p.Arg160His) http://identifiers.org/clinvar/31900 ^@ NM_001018005.1(TPM1):c.61C= (p.Arg21=) http://identifiers.org/clinvar/31901 ^@ NM_001018005.1(TPM1):c.742A>G (p.Lys248Glu) http://identifiers.org/clinvar/31907 ^@ NM_004048.2(B2M):c.286G>A (p.Asp96Asn) http://identifiers.org/clinvar/31908 ^@ NM_001399.4(EDA):c.826C>T (p.Arg276Cys) http://identifiers.org/clinvar/31909 ^@ NM_016569.3(TBX3):c.1051C>T (p.Gln351Ter) http://identifiers.org/clinvar/31910 ^@ NM_005853.5(IRX5):c.498C>A (p.Asn166Lys) http://identifiers.org/clinvar/31911 ^@ NM_005853.5(IRX5):c.448G>C (p.Ala150Pro) http://identifiers.org/clinvar/31914 ^@ NM_005006.6(NDUFS1):c.1783A>G (p.Thr595Ala) http://identifiers.org/clinvar/31915 ^@ NM_002111.6(HTT):c.52CAG(27_35) (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/31916 ^@ NM_002111.6(HTT):c.52CAG(36_39) http://identifiers.org/clinvar/31917 ^@ NM_003124.4(SPR):c.304G>T (p.Gly102Cys) http://identifiers.org/clinvar/31918 ^@ UBR1, IVS12AS, G-A, -1 http://identifiers.org/clinvar/31922 ^@ NM_000506.4(F2):c.1787G>T (p.Arg596Leu) http://identifiers.org/clinvar/31927 ^@ NM_015386.2(COG4):c.697G>T (p.Glu233Ter) http://identifiers.org/clinvar/31928 ^@ NM_015386.2(COG4):c.2318T>G (p.Leu773Arg) http://identifiers.org/clinvar/37346 ^@ NM_006446.4(SLCO1B1):c.521T>C (p.Val174Ala) http://identifiers.org/clinvar/31932 ^@ NM_003151.3(STAT4):c.274-23582A= http://identifiers.org/clinvar/31934 ^@ NM_025129.4(FUZ):c.115C>T (p.Pro39Ser) http://identifiers.org/clinvar/31935 ^@ NM_025129.4(FUZ):c.1060G>T (p.Asp354Tyr) http://identifiers.org/clinvar/31936 ^@ NM_025129.4(FUZ):c.1211G>A (p.Arg404Gln) http://identifiers.org/clinvar/31938 ^@ NG_021318.1:g.(5171_72686)_(72866_93329)del http://identifiers.org/clinvar/31940 ^@ NM_033360.3(KRAS):c.211T>C (p.Tyr71His) http://identifiers.org/clinvar/31941 ^@ NM_033360.3(KRAS):c.439A>G (p.Lys147Glu) http://identifiers.org/clinvar/31942 ^@ GATA1, 1-BP DEL, 332G http://identifiers.org/clinvar/31943 ^@ NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) http://identifiers.org/clinvar/31944 ^@ NM_006218.3(PIK3CA):c.1624G>A (p.Glu542Lys) http://identifiers.org/clinvar/31945 ^@ NM_006218.3(PIK3CA):c.1258T>C (p.Cys420Arg) http://identifiers.org/clinvar/31946 ^@ NM_005691.3(ABCC9):c.3460C>T (p.Arg1154Trp) http://identifiers.org/clinvar/31947 ^@ NM_020297.3(ABCC9):c.3461G>A (p.Arg1154Gln) http://identifiers.org/clinvar/31948 ^@ NM_005691.3(ABCC9):c.3128G>A (p.Cys1043Tyr) http://identifiers.org/clinvar/31949 ^@ NM_005691.3(ABCC9):c.1433C>T (p.Ala478Val) http://identifiers.org/clinvar/31951 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 http://identifiers.org/clinvar/31952 ^@ GRCh38/hg38 2q37.3(chr2:241988449-242065208)x1 http://identifiers.org/clinvar/31956 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 http://identifiers.org/clinvar/31963 ^@ GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 http://identifiers.org/clinvar/31967 ^@ GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 http://identifiers.org/clinvar/31972 ^@ GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 http://identifiers.org/clinvar/31981 ^@ GRCh38/hg38 4q22.1-22.2(chr4:92513191-94071223)x3 http://identifiers.org/clinvar/31990 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 http://identifiers.org/clinvar/32007 ^@ GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 http://identifiers.org/clinvar/32010 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1 http://identifiers.org/clinvar/32021 ^@ GRCh38/hg38 6p25.3(chr6:259528-307998)x1 http://identifiers.org/clinvar/32057 ^@ GRCh38/hg38 3p12.2(chr3:80367579-80994156)x3 http://identifiers.org/clinvar/32067 ^@ GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1 http://identifiers.org/clinvar/32069 ^@ GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 http://identifiers.org/clinvar/32079 ^@ GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 http://identifiers.org/clinvar/32080 ^@ GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1 http://identifiers.org/clinvar/32088 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3 http://identifiers.org/clinvar/32099 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 http://identifiers.org/clinvar/32105 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 http://identifiers.org/clinvar/32126 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 http://identifiers.org/clinvar/32138 ^@ GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1 http://identifiers.org/clinvar/32153 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/32161 ^@ GRCh38/hg38 2q13(chr2:110104900-110371270)x3 http://identifiers.org/clinvar/32165 ^@ GRCh38/hg38 6p25.3(chr6:259528-293493)x1 http://identifiers.org/clinvar/32168 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 http://identifiers.org/clinvar/32174 ^@ GRCh38/hg38 6p25.3(chr6:259528-293493)x3 http://identifiers.org/clinvar/32195 ^@ GRCh38/hg38 20p12.1(chr20:12776078-13349316)x1 http://identifiers.org/clinvar/32196 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 http://identifiers.org/clinvar/32199 ^@ GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1 http://identifiers.org/clinvar/32222 ^@ GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 http://identifiers.org/clinvar/32234 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/32239 ^@ GRCh37/hg19 17q12(chr17:34611352-36248918)x3 http://identifiers.org/clinvar/32244 ^@ GRCh38/hg38 10q26.3(chr10:133538868-133620674)x3 http://identifiers.org/clinvar/32253 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 http://identifiers.org/clinvar/32255 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1 http://identifiers.org/clinvar/32259 ^@ GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1 http://identifiers.org/clinvar/32267 ^@ GRCh38/hg38 6p25.3(chr6:259528-339802)x1 http://identifiers.org/clinvar/32283 ^@ GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1 http://identifiers.org/clinvar/32288 ^@ GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 http://identifiers.org/clinvar/32317 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/32321 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/32353 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 http://identifiers.org/clinvar/32364 ^@ GRCh38/hg38 2q37.3(chr2:241988449-242065208)x3 http://identifiers.org/clinvar/32380 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 http://identifiers.org/clinvar/32384 ^@ GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3 http://identifiers.org/clinvar/32396 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 http://identifiers.org/clinvar/32400 ^@ GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 http://identifiers.org/clinvar/32417 ^@ GRCh38/hg38 4p16.3(chr4:72555-113701)x3 http://identifiers.org/clinvar/32433 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 http://identifiers.org/clinvar/32436 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 http://identifiers.org/clinvar/32439 ^@ GRCh38/hg38 10q26.3(chr10:133440535-133564028)x1 http://identifiers.org/clinvar/32442 ^@ GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3 http://identifiers.org/clinvar/32448 ^@ GRCh38/hg38 2q37.3(chr2:241988449-242126245)x1 http://identifiers.org/clinvar/32450 ^@ GRCh38/hg38 8p23.2(chr8:3853288-6054774)x3 http://identifiers.org/clinvar/32463 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247671-35492978)x3 http://identifiers.org/clinvar/32473 ^@ GRCh38/hg38 8q11.1(chr8:46031334-46792065)x1 http://identifiers.org/clinvar/32476 ^@ GRCh38/hg38 5q23.1(chr5:117766849-118700657)x1 http://identifiers.org/clinvar/32488 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 http://identifiers.org/clinvar/32491 ^@ GRCh38/hg38 17q12(chr17:36500215-37889296)x3 http://identifiers.org/clinvar/32497 ^@ GRCh38/hg38 8p23.3(chr8:244617-2017223)x1 http://identifiers.org/clinvar/32504 ^@ NR_036056.1(MIR2909):n.(?_-853004)_(1135855_?)dup http://identifiers.org/clinvar/32529 ^@ GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 http://identifiers.org/clinvar/32558 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 http://identifiers.org/clinvar/32570 ^@ GRCh38/hg38 22q13.33(chr22:50685063-50739836)x1 http://identifiers.org/clinvar/32601 ^@ GRCh38/hg38 6p25.3(chr6:163083-918985)x1 http://identifiers.org/clinvar/32602 ^@ GRCh38/hg38 6p25.3(chr6:259528-339802)x3 http://identifiers.org/clinvar/32638 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 http://identifiers.org/clinvar/32642 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 http://identifiers.org/clinvar/32643 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 http://identifiers.org/clinvar/32650 ^@ GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1 http://identifiers.org/clinvar/32673 ^@ GRCh38/hg38 9p24.3(chr9:204193-381489)x3 http://identifiers.org/clinvar/32689 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 http://identifiers.org/clinvar/32717 ^@ GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3 http://identifiers.org/clinvar/32742 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 http://identifiers.org/clinvar/32779 ^@ GRCh38/hg38 14q32.33(chr14:106112755-106318409)x1 http://identifiers.org/clinvar/32783 ^@ GRCh38/hg38 16p11.2(chr16:28850210-29019738)x1 http://identifiers.org/clinvar/32789 ^@ GRCh38/hg38 2q13(chr2:110104900-110207160)x0 http://identifiers.org/clinvar/32794 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 http://identifiers.org/clinvar/32810 ^@ GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 http://identifiers.org/clinvar/32815 ^@ GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 http://identifiers.org/clinvar/32818 ^@ GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 http://identifiers.org/clinvar/32820 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/32821 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 http://identifiers.org/clinvar/32826 ^@ GRCh38/hg38 8p23.1(chr8:12182421-12610034)x1 http://identifiers.org/clinvar/32828 ^@ GRCh38/hg38 12p11.1(chr12:33392214-34603274)x3 http://identifiers.org/clinvar/32846 ^@ GRCh38/hg38 6p25.3(chr6:259528-389482)x1 http://identifiers.org/clinvar/32870 ^@ GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3 http://identifiers.org/clinvar/32878 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 http://identifiers.org/clinvar/32888 ^@ GRCh38/hg38 17p12(chr17:14208455-15538752)x1 http://identifiers.org/clinvar/32913 ^@ GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3 http://identifiers.org/clinvar/32921 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 http://identifiers.org/clinvar/32939 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/32941 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 http://identifiers.org/clinvar/32947 ^@ GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 http://identifiers.org/clinvar/32948 ^@ GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1 http://identifiers.org/clinvar/32955 ^@ GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 http://identifiers.org/clinvar/32961 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 http://identifiers.org/clinvar/32991 ^@ GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3 http://identifiers.org/clinvar/32998 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 http://identifiers.org/clinvar/33017 ^@ GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 http://identifiers.org/clinvar/33024 ^@ GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 http://identifiers.org/clinvar/33061 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 http://identifiers.org/clinvar/33072 ^@ GRCh38/hg38 11q25(chr11:134511738-134841778)x3 http://identifiers.org/clinvar/33085 ^@ GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 http://identifiers.org/clinvar/33096 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 http://identifiers.org/clinvar/33113 ^@ GRCh38/hg38 16p11.2-11.1(chr16:34967717-35913137)x3 http://identifiers.org/clinvar/33116 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 http://identifiers.org/clinvar/33118 ^@ GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 http://identifiers.org/clinvar/33120 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 http://identifiers.org/clinvar/33152 ^@ GRCh38/hg38 12q14.1(chr12:60698177-61527666)x1 http://identifiers.org/clinvar/33174 ^@ GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 http://identifiers.org/clinvar/33175 ^@ GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 http://identifiers.org/clinvar/33185 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 http://identifiers.org/clinvar/33205 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 http://identifiers.org/clinvar/33225 ^@ GRCh38/hg38 6q22.31(chr6:123206400-123959297)x3 http://identifiers.org/clinvar/33229 ^@ GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 http://identifiers.org/clinvar/33235 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1 http://identifiers.org/clinvar/33260 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 http://identifiers.org/clinvar/33265 ^@ GRCh38/hg38 7q11.22(chr7:70891025-71072442)x3 http://identifiers.org/clinvar/33302 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 http://identifiers.org/clinvar/33308 ^@ GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 http://identifiers.org/clinvar/33342 ^@ GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1 http://identifiers.org/clinvar/33352 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 http://identifiers.org/clinvar/33369 ^@ GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 http://identifiers.org/clinvar/33378 ^@ GRCh38/hg38 15q26.1-26.2(chr15:93198717-94268636)x3 http://identifiers.org/clinvar/33394 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 http://identifiers.org/clinvar/33404 ^@ GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3 http://identifiers.org/clinvar/33420 ^@ GRCh37/hg19 17q12(chr17:34856055-36248918)x1 http://identifiers.org/clinvar/33422 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 http://identifiers.org/clinvar/33448 ^@ GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 http://identifiers.org/clinvar/33463 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 http://identifiers.org/clinvar/33471 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 http://identifiers.org/clinvar/33504 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/33553 ^@ GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 http://identifiers.org/clinvar/33584 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/33590 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/33674 ^@ GRCh38/hg38 2p25.3(chr2:30341-507042)x3 http://identifiers.org/clinvar/33676 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/33733 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 http://identifiers.org/clinvar/33735 ^@ GRCh38/hg38 17p12(chr17:14208455-15538752)x3 http://identifiers.org/clinvar/33743 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 http://identifiers.org/clinvar/33766 ^@ GRCh38/hg38 9p24.3(chr9:204193-332515)x1 http://identifiers.org/clinvar/33799 ^@ GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 http://identifiers.org/clinvar/33823 ^@ GRCh38/hg38 2p11.2(chr2:87148954-87705899)x1 http://identifiers.org/clinvar/33826 ^@ GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 http://identifiers.org/clinvar/33851 ^@ GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 http://identifiers.org/clinvar/33873 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 http://identifiers.org/clinvar/33886 ^@ GRCh38/hg38 7p22.3(chr7:101528-227833)x3 http://identifiers.org/clinvar/33926 ^@ GRCh38/hg38 1q21.2(chr1:147756734-147776466)x3 http://identifiers.org/clinvar/33940 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 http://identifiers.org/clinvar/33969 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 http://identifiers.org/clinvar/34033 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 http://identifiers.org/clinvar/34063 ^@ GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3 http://identifiers.org/clinvar/34104 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 http://identifiers.org/clinvar/34139 ^@ GRCh38/hg38 8q11.1(chr8:46031334-46662449)x1 http://identifiers.org/clinvar/34167 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 http://identifiers.org/clinvar/34168 ^@ GRCh38/hg38 4q35.2(chr4:187589886-188115140)x3 http://identifiers.org/clinvar/34193 ^@ GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 http://identifiers.org/clinvar/34221 ^@ GRCh38/hg38 12q14.1(chr12:58773370-59370427)x1 http://identifiers.org/clinvar/34228 ^@ GRCh38/hg38 2q13(chr2:110104900-110201550)x3 http://identifiers.org/clinvar/34276 ^@ GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 http://identifiers.org/clinvar/34317 ^@ GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1 http://identifiers.org/clinvar/34363 ^@ GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 http://identifiers.org/clinvar/34369 ^@ GRCh38/hg38 3q29(chr3:196013486-197590232)x1 http://identifiers.org/clinvar/34384 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 http://identifiers.org/clinvar/34392 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 http://identifiers.org/clinvar/34454 ^@ GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3 http://identifiers.org/clinvar/34458 ^@ GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 http://identifiers.org/clinvar/34517 ^@ GRCh38/hg38 6p25.3(chr6:266079-339802)x3 http://identifiers.org/clinvar/34538 ^@ GRCh38/hg38 2q13(chr2:110025659-110207160)x1 http://identifiers.org/clinvar/34545 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3 http://identifiers.org/clinvar/34605 ^@ GRCh38/hg38 14q32.33(chr14:106450995-106714110)x3 http://identifiers.org/clinvar/34625 ^@ GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 http://identifiers.org/clinvar/34639 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 http://identifiers.org/clinvar/34702 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 http://identifiers.org/clinvar/34710 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146009630)x3 http://identifiers.org/clinvar/34714 ^@ GRCh38/hg38 9q33.1(chr9:117189877-119261350)x3 http://identifiers.org/clinvar/34724 ^@ GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 http://identifiers.org/clinvar/34753 ^@ GRCh38/hg38 5p15.33(chr5:629340-820360)x1 http://identifiers.org/clinvar/34890 ^@ GRCh38/hg38 1q41(chr1:215206760-222004068)x1 http://identifiers.org/clinvar/34910 ^@ GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 http://identifiers.org/clinvar/34983 ^@ GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3 http://identifiers.org/clinvar/34989 ^@ GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3 http://identifiers.org/clinvar/34991 ^@ GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 http://identifiers.org/clinvar/35016 ^@ GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 http://identifiers.org/clinvar/35044 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 http://identifiers.org/clinvar/35076 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 http://identifiers.org/clinvar/35173 ^@ GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 http://identifiers.org/clinvar/35217 ^@ GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 http://identifiers.org/clinvar/35239 ^@ GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1 http://identifiers.org/clinvar/35265 ^@ GRCh38/hg38 20p13(chr20:89939-1852477)x1 http://identifiers.org/clinvar/35312 ^@ GRCh38/hg38 8p23.2(chr8:2641113-3269970)x3 http://identifiers.org/clinvar/35338 ^@ GRCh38/hg38 14q21.2(chr14:43387283-44153866)x3 http://identifiers.org/clinvar/35416 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 http://identifiers.org/clinvar/35452 ^@ AQP7, -953, A-G http://identifiers.org/clinvar/35453 ^@ NM_001006658.2(CR2):c.2297G>A (p.Trp766Ter) http://identifiers.org/clinvar/35454 ^@ NM_001006658.2(CR2):c.1225+1G>C http://identifiers.org/clinvar/35455 ^@ NM_006726.4(LRBA):c.7970T>G (p.Ile2657Ser) http://identifiers.org/clinvar/35456 ^@ NM_006726.4(LRBA):c.5047C>T (p.Arg1683Ter) http://identifiers.org/clinvar/35457 ^@ NM_006726.4(LRBA):c.175G>T (p.Glu59Ter) http://identifiers.org/clinvar/35458 ^@ NC_000004.12:g.150971137_151082250del111114 http://identifiers.org/clinvar/35459 ^@ NM_006265.2(RAD21):c.1127C>G (p.Pro376Arg) http://identifiers.org/clinvar/35460 ^@ NM_006265.2(RAD21):c.1753T>C (p.Cys585Arg) http://identifiers.org/clinvar/35465 ^@ NM_014236.3(GNPAT):c.1556A>G (p.Asp519Gly) http://identifiers.org/clinvar/35466 ^@ GNPAT, IVS9AS, T-G, -3 http://identifiers.org/clinvar/35467 ^@ GNPAT, 2-BP DEL, 1429AT http://identifiers.org/clinvar/35468 ^@ GNPAT, IVS14DS, G-A, +5 http://identifiers.org/clinvar/35469 ^@ NM_003659.3(AGPS):c.1703C>T (p.Thr568Met) http://identifiers.org/clinvar/35470 ^@ NM_024531.4(SLC52A2):c.916G>A (p.Gly306Arg) http://identifiers.org/clinvar/35472 ^@ NM_014043.3(CHMP2B):c.311C>A (p.Thr104Asn) http://identifiers.org/clinvar/35474 ^@ COMP, 3-BP DEL, (GAC)2 http://identifiers.org/clinvar/35475 ^@ NM_017565.3(FAM20A):c.34_35delCT (p.Leu12Alafs) http://identifiers.org/clinvar/35476 ^@ NM_017565.3(FAM20A):c.813-2A>G http://identifiers.org/clinvar/35477 ^@ NM_017565.3(FAM20A):c.1175_1179delGGCTC (p.Arg392Profs) http://identifiers.org/clinvar/35478 ^@ NM_017565.3(FAM20A):c.590-2A>G http://identifiers.org/clinvar/35479 ^@ NM_017565.3(FAM20A):c.826C>T (p.Arg276Ter) http://identifiers.org/clinvar/35483 ^@ NM_001130438.2(SPTAN1):c.6605_6607delAGC (p.Gln2202del) http://identifiers.org/clinvar/35484 ^@ NM_001130438.2(SPTAN1):c.1697G>C (p.Arg566Pro) http://identifiers.org/clinvar/35485 ^@ NM_003611.2(OFD1):c.688_705del18 (p.Ile230_Lys235del) http://identifiers.org/clinvar/35486 ^@ NM_017636.3(TRPM4):c.1744G>A (p.Gly582Ser) http://identifiers.org/clinvar/35487 ^@ NM_017636.3(TRPM4):c.1294G>A (p.Ala432Thr) http://identifiers.org/clinvar/35488 ^@ NM_017636.3(TRPM4):c.490C>T (p.Arg164Trp) http://identifiers.org/clinvar/35489 ^@ NM_017636.3(TRPM4):c.2531G>A (p.Gly844Asp) http://identifiers.org/clinvar/35490 ^@ NM_017636.3(TRPM4):c.2741A>G (p.Lys914Arg) http://identifiers.org/clinvar/35491 ^@ GPSM2, 1-BP DEL, 1473G http://identifiers.org/clinvar/35492 ^@ NM_013296.4(GPSM2):c.742delC (p.Gly249Glufs) http://identifiers.org/clinvar/35493 ^@ NM_013296.4(GPSM2):c.1661C>A (p.Ser554Ter) http://identifiers.org/clinvar/35494 ^@ NM_013296.4(GPSM2):c.1062+1G>T http://identifiers.org/clinvar/35495 ^@ NM_133645.2(MTO1):c.1933dupA (p.Arg645Lysfs) http://identifiers.org/clinvar/35496 ^@ NM_133645.2(MTO1):c.1357G>A (p.Ala453Thr) http://identifiers.org/clinvar/35502 ^@ NM_000222.2(KIT):c.1859T>C (p.Val620Ala) http://identifiers.org/clinvar/35505 ^@ NM_000116.4(TAZ):c.718G>A (p.Gly240Arg) http://identifiers.org/clinvar/35522 ^@ NM_000155.3(GALT):c.152G>A (p.Arg51Gln) http://identifiers.org/clinvar/35511 ^@ TRPV4, PHE273LEU http://identifiers.org/clinvar/35512 ^@ NM_021625.4(TRPV4):c.812G>C (p.Arg271Pro) http://identifiers.org/clinvar/35513 ^@ NM_021625.4(TRPV4):c.809G>T (p.Gly270Val) http://identifiers.org/clinvar/35514 ^@ NM_000144.4(FXN):c.371_376delATGTCTinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) http://identifiers.org/clinvar/35515 ^@ GJC3, GLU269ASP http://identifiers.org/clinvar/35516 ^@ LIPA, 1-BP DEL, 482A http://identifiers.org/clinvar/35517 ^@ CEP63, TRP43TER http://identifiers.org/clinvar/35518 ^@ NM_018475.4(TMEM165):c.792+182G>A http://identifiers.org/clinvar/35519 ^@ NM_018475.4(TMEM165):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/35520 ^@ NM_018475.4(TMEM165):c.376C>T (p.Arg126Cys) http://identifiers.org/clinvar/35521 ^@ NM_018475.4(TMEM165):c.910G>A (p.Gly304Arg) http://identifiers.org/clinvar/35528 ^@ NM_000076.2(CDKN1C):c.826T>G (p.Phe276Val) http://identifiers.org/clinvar/35529 ^@ NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser) http://identifiers.org/clinvar/35530 ^@ NM_000076.2(CDKN1C):c.836G>C (p.Arg279Pro) http://identifiers.org/clinvar/35531 ^@ NM_000076.2(CDKN1C):c.820G>A (p.Asp274Asn) http://identifiers.org/clinvar/35532 ^@ NM_000076.2(CDKN1C):c.832A>G (p.Lys278Glu) http://identifiers.org/clinvar/35533 ^@ NM_020297.3(ABCC9):c.3347G>A (p.Arg1116His) http://identifiers.org/clinvar/35534 ^@ NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) http://identifiers.org/clinvar/35535 ^@ NM_005691.3(ABCC9):c.3058T>C (p.Ser1020Pro) http://identifiers.org/clinvar/35536 ^@ NM_005691.3(ABCC9):c.178C>T (p.His60Tyr) http://identifiers.org/clinvar/35537 ^@ NM_004625.3(WNT7A):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/35538 ^@ NM_012343.3(NNT):c.1598C>T (p.Ala533Val) http://identifiers.org/clinvar/35539 ^@ NM_012343.3(NNT):c.600-1delG http://identifiers.org/clinvar/35540 ^@ NM_012343.3(NNT):c.2930T>C (p.Leu977Pro) http://identifiers.org/clinvar/35541 ^@ NM_012343.3(NNT):c.1107_1110delTCAC (p.His370Terfs) http://identifiers.org/clinvar/35542 ^@ NM_012343.3(NNT):c.3027T>G (p.Asn1009Lys) http://identifiers.org/clinvar/35543 ^@ NM_012343.3(NNT):c.3022G>C (p.Ala1008Pro) http://identifiers.org/clinvar/35544 ^@ NM_004315.5(ASAH1):c.173C>T (p.Thr58Met) http://identifiers.org/clinvar/35545 ^@ NC_000008.11:g.(?_18051554)_(18107050_?)del http://identifiers.org/clinvar/35553 ^@ NM_000349.2(STAR):c.577C>T (p.Arg193Ter) http://identifiers.org/clinvar/35554 ^@ NM_005343.3(HRAS):c.37G>C (p.Gly13Arg) http://identifiers.org/clinvar/35555 ^@ NM_000546.5(TP53):c.*1175A>C http://identifiers.org/clinvar/35556 ^@ NM_032861.3(SERAC1):c.442C>T (p.Arg148Ter) http://identifiers.org/clinvar/35557 ^@ SERAC1, IVS13DS, G-C, +1 http://identifiers.org/clinvar/35558 ^@ SERAC1, 4-BP DEL, 1167TCAG http://identifiers.org/clinvar/35559 ^@ SERAC1, 3-BP DEL, 1435CTT http://identifiers.org/clinvar/35560 ^@ SERAC1, 2-BP DUP, 1627TC http://identifiers.org/clinvar/35561 ^@ NM_016098.3(MPC1):c.289C>T (p.Arg97Trp) http://identifiers.org/clinvar/35562 ^@ NM_016098.3(MPC1):c.236T>A (p.Leu79His) http://identifiers.org/clinvar/35567 ^@ NM_002144.3(HOXB1):c.619C>T (p.Arg207Cys) http://identifiers.org/clinvar/35570 ^@ ITGA3, 1-BP DEL, NT1173 http://identifiers.org/clinvar/35571 ^@ ITGA3, IVS11AS, G-A, -1 http://identifiers.org/clinvar/35572 ^@ NM_002204.3(ITGA3):c.1883G>C (p.Arg628Pro) http://identifiers.org/clinvar/35573 ^@ NM_024110.4(CARD14):c.467T>C (p.Leu156Pro) http://identifiers.org/clinvar/35574 ^@ CARD14, 3-BP DEL, 412GAG http://identifiers.org/clinvar/35575 ^@ CARD14, IVS3, G-A, +1 http://identifiers.org/clinvar/35576 ^@ NM_003612.4(SEMA7A):c.620G>A (p.Arg207Gln) http://identifiers.org/clinvar/35577 ^@ NM_003612.4(SEMA7A):c.619C>T (p.Arg207Trp) http://identifiers.org/clinvar/35578 ^@ NM_003612.4(SEMA7A):c.1379G>A (p.Arg460His) http://identifiers.org/clinvar/35579 ^@ NM_003612.4(SEMA7A):c.1381C>T (p.Arg461Cys) http://identifiers.org/clinvar/35580 ^@ NM_003612.4(SEMA7A):c.1040G>T (p.Arg347Leu) http://identifiers.org/clinvar/35592 ^@ NM_000066.3(C8B):c.820C>T (p.Arg274Ter) http://identifiers.org/clinvar/35593 ^@ NM_000066.3(C8B):c.361C>T (p.Arg121Ter) http://identifiers.org/clinvar/35594 ^@ NM_000066.3(C8B):c.271C>T (p.Gln91Ter) http://identifiers.org/clinvar/35595 ^@ NM_000066.3(C8B):c.336delC (p.Asn113Thrfs) http://identifiers.org/clinvar/35596 ^@ NM_000066.3(C8B):c.605delC (p.Pro202Argfs) http://identifiers.org/clinvar/35597 ^@ NM_000066.3(C8B):c.1041_1047dupGGCTGTG (p.Leu350Glyfs) http://identifiers.org/clinvar/35598 ^@ NM_022912.2(REEP1):c.304-2A>G http://identifiers.org/clinvar/35599 ^@ NM_032634.3(PIGO):c.2869C>T (p.Leu957Phe) http://identifiers.org/clinvar/35600 ^@ NM_032634.3(PIGO):c.2361dupC http://identifiers.org/clinvar/35601 ^@ NM_032634.3(PIGO):c.3069+5G>A http://identifiers.org/clinvar/35602 ^@ NM_000352.4(ABCC8):c.-19A>G http://identifiers.org/clinvar/35603 ^@ NM_000352.4(ABCC8):c.1332+17G>C http://identifiers.org/clinvar/35604 ^@ NM_000352.4(ABCC8):c.1572G>A (p.Thr524Thr=) http://identifiers.org/clinvar/35605 ^@ NM_000352.4(ABCC8):c.1606T>C (p.Phe536Leu) http://identifiers.org/clinvar/35606 ^@ NM_000352.4(ABCC8):c.1616A>G (p.Tyr539Cys) http://identifiers.org/clinvar/35607 ^@ NM_000352.4(ABCC8):c.2117-12C>A http://identifiers.org/clinvar/35608 ^@ NM_000352.4(ABCC8):c.3329+6C>T http://identifiers.org/clinvar/35609 ^@ NM_000352.4(ABCC8):c.3517G>A (p.Val1173Met) http://identifiers.org/clinvar/35610 ^@ NM_000352.4(ABCC8):c.3542T>G (p.Phe1181Cys) http://identifiers.org/clinvar/35611 ^@ NM_000352.4(ABCC8):c.3545G>A (p.Arg1182Gln) http://identifiers.org/clinvar/35612 ^@ NM_000352.4(ABCC8):c.4120-19C>T http://identifiers.org/clinvar/35613 ^@ NM_000352.4(ABCC8):c.413-5G>A http://identifiers.org/clinvar/35614 ^@ NM_000352.4(ABCC8):c.4135C>A (p.Arg1379Ser) http://identifiers.org/clinvar/35615 ^@ NM_000352.4(ABCC8):c.4136G>T (p.Arg1379Leu) http://identifiers.org/clinvar/35616 ^@ NM_000352.4(ABCC8):c.4198G>A (p.Gly1400Arg) http://identifiers.org/clinvar/35617 ^@ NM_000352.4(ABCC8):c.4306C>T (p.Arg1436Ter) http://identifiers.org/clinvar/35618 ^@ NM_000352.4(ABCC8):c.4368C>G (p.Ile1456Met) http://identifiers.org/clinvar/35619 ^@ NM_000352.4(ABCC8):c.4412-14C>T http://identifiers.org/clinvar/35620 ^@ NM_000352.4(ABCC8):c.4451G>A (p.Gly1484Glu) http://identifiers.org/clinvar/35621 ^@ NM_000352.4(ABCC8):c.4553T>G (p.Ile1518Ser) http://identifiers.org/clinvar/35622 ^@ NM_000352.4(ABCC8):c.4564G>A (p.Val1522Met) http://identifiers.org/clinvar/35623 ^@ NM_000352.4(ABCC8):c.4615G>A (p.Val1539Met) http://identifiers.org/clinvar/35624 ^@ NM_000352.4(ABCC8):c.886G>A (p.Gly296Arg) http://identifiers.org/clinvar/35625 ^@ NM_005691.3(ABCC9):c.-11T>C http://identifiers.org/clinvar/35626 ^@ NM_005691.3(ABCC9):c.1165-6delT http://identifiers.org/clinvar/35627 ^@ NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile) http://identifiers.org/clinvar/35628 ^@ NM_005691.3(ABCC9):c.2523C>T (p.Ala841=) http://identifiers.org/clinvar/35629 ^@ NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter) http://identifiers.org/clinvar/35630 ^@ NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) http://identifiers.org/clinvar/35631 ^@ NM_005691.3(ABCC9):c.2644-11G>A http://identifiers.org/clinvar/35632 ^@ NM_005691.3(ABCC9):c.3321C>T (p.Ile1107=) http://identifiers.org/clinvar/35633 ^@ NM_005691.3(ABCC9):c.3768T>C (p.Leu1256=) http://identifiers.org/clinvar/35634 ^@ NM_005691.3(ABCC9):c.4450-5delT http://identifiers.org/clinvar/35635 ^@ NM_005691.3(ABCC9):c.789C>T (p.Cys263=) http://identifiers.org/clinvar/35637 ^@ NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs) http://identifiers.org/clinvar/35638 ^@ NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro) http://identifiers.org/clinvar/35639 ^@ NM_000033.3(ABCD1):c.1780+4G>A http://identifiers.org/clinvar/35640 ^@ NM_000033.3(ABCD1):c.2190G>A (p.Pro730=) http://identifiers.org/clinvar/35641 ^@ NM_000033.3(ABCD1):c.*208G>C http://identifiers.org/clinvar/35642 ^@ NM_000033.3(ABCD1):c.421G>A (p.Ala141Thr) http://identifiers.org/clinvar/35643 ^@ NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) http://identifiers.org/clinvar/35644 ^@ NM_001613.2(ACTA2):c.455-17G>A http://identifiers.org/clinvar/35645 ^@ NM_005159.4(ACTC1):c.129+19_129+20insT http://identifiers.org/clinvar/35646 ^@ NM_005159.4(ACTC1):c.129+23dupC http://identifiers.org/clinvar/35647 ^@ NM_005159.4(ACTC1):c.67T>C (p.Phe23Leu) http://identifiers.org/clinvar/35648 ^@ NM_001103.3(ACTN2):c.165C>T (p.Ala55Ala=) http://identifiers.org/clinvar/35649 ^@ NM_001103.3(ACTN2):c.2139G>A (p.Thr713Thr=) http://identifiers.org/clinvar/35650 ^@ NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) http://identifiers.org/clinvar/35651 ^@ NM_001103.3(ACTN2):c.2577C>T (p.Ala859Ala=) http://identifiers.org/clinvar/35652 ^@ NM_000022.3(ADA):c.36A>G (p.Val12=) http://identifiers.org/clinvar/35653 ^@ NM_000022.3(ADA):c.390G>A (p.Val130=) http://identifiers.org/clinvar/35654 ^@ NM_000022.3(ADA):c.872C>G (p.Ser291Trp) http://identifiers.org/clinvar/35655 ^@ NM_020661.3(AICDA):c.251G>A (p.Trp84Ter) http://identifiers.org/clinvar/35656 ^@ NM_020661.3(AICDA):c.374G>A (p.Gly125Glu) http://identifiers.org/clinvar/35657 ^@ NM_000383.3(AIRE):c.1203T>C (p.Pro401=) http://identifiers.org/clinvar/35658 ^@ NM_000383.3(AIRE):c.1279-18C>T http://identifiers.org/clinvar/35659 ^@ NM_000383.3(AIRE):c.1296G>A (p.Ala432Ala=) http://identifiers.org/clinvar/35660 ^@ NM_000383.3(AIRE):c.1322C>T (p.Thr441Met) http://identifiers.org/clinvar/35661 ^@ NM_000383.3(AIRE):c.1404G>A (p.Thr468Thr=) http://identifiers.org/clinvar/35662 ^@ NM_000383.3(AIRE):c.1567-5C>T http://identifiers.org/clinvar/35663 ^@ NM_000383.3(AIRE):c.342G>T (p.Lys114Asn) http://identifiers.org/clinvar/35664 ^@ NM_000383.3(AIRE):c.371C>T (p.Pro124Leu) http://identifiers.org/clinvar/35665 ^@ NM_000383.3(AIRE):c.463G>A (p.Gly155Ser) http://identifiers.org/clinvar/35666 ^@ NM_000383.3(AIRE):c.538+42delA http://identifiers.org/clinvar/35667 ^@ NM_000383.3(AIRE):c.652+14C>T http://identifiers.org/clinvar/35668 ^@ NM_000383.3(AIRE):c.755C>T (p.Pro252Leu) http://identifiers.org/clinvar/35669 ^@ NM_000383.3(AIRE):c.99T>C (p.Ala33=) http://identifiers.org/clinvar/35670 ^@ NM_147185.2(AKAP9):c.4837A>G (p.Met1613Val) http://identifiers.org/clinvar/35673 ^@ NM_015120.4:c.11869+18G>A http://identifiers.org/clinvar/35674 ^@ NM_015120.4:c.12112-8delT http://identifiers.org/clinvar/35676 ^@ NM_015120.4(ALMS1):c.1868A>G (p.Tyr623Cys) http://identifiers.org/clinvar/35678 ^@ NM_015120.4(ALMS1):c.2761C>T (p.Gln921Ter) http://identifiers.org/clinvar/35681 ^@ ALMS1:c.4602A>G http://identifiers.org/clinvar/35682 ^@ ALMS1:c.6299C>T http://identifiers.org/clinvar/35684 ^@ ALMS1:c.7374C>T http://identifiers.org/clinvar/35685 ^@ ALMS1:c.8739A>G http://identifiers.org/clinvar/35686 ^@ NM_001127493.1(ANK2):c.3483A>G (p.Val1161=) http://identifiers.org/clinvar/35687 ^@ NM_001127493.1(ANK2):c.3769+18G>A http://identifiers.org/clinvar/35688 ^@ NM_001127493.1(ANK2):c.321+19C>T http://identifiers.org/clinvar/35689 ^@ NM_001127493.1(ANK2):c.4399+4084G>A http://identifiers.org/clinvar/35690 ^@ NM_001148.4(ANK2):c.7106T>C (p.Val2369Ala) http://identifiers.org/clinvar/35691 ^@ NM_001127493.1(ANK2):c.4400-4039G>A http://identifiers.org/clinvar/35692 ^@ NM_000039.2(APOA1):c.162G>C (p.Val54=) http://identifiers.org/clinvar/35693 ^@ NM_000486.5(AQP2):c.223T>G (p.Cys75Gly) http://identifiers.org/clinvar/35694 ^@ NM_000486.5(AQP2):c.438C>T (p.Phe146=) http://identifiers.org/clinvar/35695 ^@ NM_000486.5(AQP2):c.560G>A (p.Arg187His) http://identifiers.org/clinvar/35696 ^@ NM_000486.5(AQP2):c.785delC (p.Pro262Argfs) http://identifiers.org/clinvar/35698 ^@ NM_001677.3(ATP1B1):c.571C>T (p.Pro191Ser) http://identifiers.org/clinvar/35699 ^@ NM_000053.3(ATP7B):c.-123_-119dupCGCCG http://identifiers.org/clinvar/35700 ^@ NM_000053.3(ATP7B):c.-74C>A http://identifiers.org/clinvar/35701 ^@ NM_000053.3(ATP7B):c.1216T>G (p.Ser406Ala) http://identifiers.org/clinvar/35702 ^@ NM_000053.3(ATP7B):c.1366G>C (p.Val456Leu) http://identifiers.org/clinvar/35703 ^@ NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) http://identifiers.org/clinvar/35704 ^@ NM_000053.3(ATP7B):c.1707+9T>C http://identifiers.org/clinvar/35705 ^@ NM_000053.3(ATP7B):c.2122-8T>G http://identifiers.org/clinvar/35706 ^@ NM_000053.3(ATP7B):c.2305A>G (p.Met769Val) http://identifiers.org/clinvar/35707 ^@ NM_000053.3(ATP7B):c.2495A>G (p.Lys832Arg) http://identifiers.org/clinvar/35708 ^@ NM_000053.3(ATP7B):c.2855G>A (p.Arg952Lys) http://identifiers.org/clinvar/35709 ^@ NM_000053.3(ATP7B):c.2866-13G>C http://identifiers.org/clinvar/35710 ^@ NM_000053.3(ATP7B):c.2930C>T (p.Thr977Met) http://identifiers.org/clinvar/35711 ^@ NM_000053.3(ATP7B):c.2953T>C (p.Cys985Arg) http://identifiers.org/clinvar/35712 ^@ NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) http://identifiers.org/clinvar/35713 ^@ NM_000053.3(ATP7B):c.2973G>A (p.Thr991=) http://identifiers.org/clinvar/35714 ^@ NM_000053.3(ATP7B):c.3009G>A (p.Ala1003=) http://identifiers.org/clinvar/35715 ^@ NM_000053.3(ATP7B):c.3015C>T (p.Asn1005=) http://identifiers.org/clinvar/35716 ^@ NM_000053.3(ATP7B):c.3045G>A (p.Leu1015=) http://identifiers.org/clinvar/35717 ^@ NM_000053.3(ATP7B):c.3054G>A (p.Ala1018=) http://identifiers.org/clinvar/35718 ^@ NM_000053.3(ATP7B):c.3060+16G>T http://identifiers.org/clinvar/35719 ^@ NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg) http://identifiers.org/clinvar/35720 ^@ NM_000053.3(ATP7B):c.3419T>C (p.Val1140Ala) http://identifiers.org/clinvar/35721 ^@ NM_000053.3(ATP7B):c.3489C>T (p.Ser1163=) http://identifiers.org/clinvar/35722 ^@ NM_000053.3(ATP7B):c.3557-6C>T http://identifiers.org/clinvar/35723 ^@ NM_000053.3(ATP7B):c.3588C>T (p.Asp1196=) http://identifiers.org/clinvar/35724 ^@ NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg) http://identifiers.org/clinvar/35725 ^@ NM_000053.3(ATP7B):c.3659C>T (p.Thr1220Met) http://identifiers.org/clinvar/35726 ^@ NM_000053.3(ATP7B):c.3700G>T (p.Val1234Phe) http://identifiers.org/clinvar/35727 ^@ NM_000053.3(ATP7B):c.3903+6C>T http://identifiers.org/clinvar/35728 ^@ NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter) http://identifiers.org/clinvar/35729 ^@ NM_000053.3(ATP7B):c.4058G>A (p.Trp1353Ter) http://identifiers.org/clinvar/35730 ^@ NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) http://identifiers.org/clinvar/35731 ^@ NM_000053.3(ATP7B):c.4302G>A (p.Thr1434=) http://identifiers.org/clinvar/35732 ^@ NM_000053.3(ATP7B):c.4311G>A (p.Lys1437=) http://identifiers.org/clinvar/35733 ^@ NM_000053.3(ATP7B):c.*15C>T http://identifiers.org/clinvar/35734 ^@ NM_000053.3(ATP7B):c.*16G>A http://identifiers.org/clinvar/35735 ^@ NM_000053.3(ATP7B):c.845delT (p.Leu282Profs) http://identifiers.org/clinvar/35736 ^@ NM_000053.3(ATP7B):c.98T>C (p.Met33Thr) http://identifiers.org/clinvar/35737 ^@ NM_000054.4(AVPR2):c.176T>C (p.Leu59Pro) http://identifiers.org/clinvar/35738 ^@ NM_000054.4(AVPR2):c.290T>C (p.Leu97Pro) http://identifiers.org/clinvar/35739 ^@ NM_000054.4(AVPR2):c.409C>G (p.Arg137Gly) http://identifiers.org/clinvar/35740 ^@ NM_000054.4(AVPR2):c.424delT (p.Cys142Alafs) http://identifiers.org/clinvar/35741 ^@ NM_000054.4(AVPR2):c.472delC (p.Arg158Glyfs) http://identifiers.org/clinvar/35742 ^@ NM_000054.4(AVPR2):c.554delG (p.Gly185Valfs) http://identifiers.org/clinvar/35743 ^@ NM_000054.4(AVPR2):c.673C>T (p.Gln225Ter) http://identifiers.org/clinvar/35744 ^@ NM_000054.4(AVPR2):c.752_758delGCCGGAC (p.Arg251Glnfs) http://identifiers.org/clinvar/35745 ^@ NM_000054.4(AVPR2):c.770delG (p.Gly257Valfs) http://identifiers.org/clinvar/35746 ^@ NM_000054.4(AVPR2):c.819_821delGCT (p.Leu274del) http://identifiers.org/clinvar/35747 ^@ NM_000054.4(AVPR2):c.838dupT (p.Tyr280Leufs) http://identifiers.org/clinvar/35748 ^@ NM_000054.4(AVPR2):c.853G>C (p.Ala285Pro) http://identifiers.org/clinvar/35749 ^@ NM_000054.4(AVPR2):c.963C>A (p.Asn321Lys) http://identifiers.org/clinvar/35750 ^@ NM_024685.3(BBS10):c.1245T>C (p.His415=) http://identifiers.org/clinvar/35751 ^@ NM_024685.3(BBS10):c.1736A>G (p.Lys579Arg) http://identifiers.org/clinvar/35752 ^@ NM_024685.3(BBS10):c.424G>A (p.Asp142Asn) http://identifiers.org/clinvar/35753 ^@ NM_024649.4(BBS1):c.670G>A (p.Glu224Lys) http://identifiers.org/clinvar/35754 ^@ NM_031885.3(BBS2):c.1015C>T (p.Arg339Ter) http://identifiers.org/clinvar/35755 ^@ NM_031885.3(BBS2):c.1770delT (p.Phe590Leufs) http://identifiers.org/clinvar/35756 ^@ NM_031885.3(BBS2):c.612+12C>A http://identifiers.org/clinvar/35757 ^@ NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) http://identifiers.org/clinvar/35758 ^@ NM_000061.2(BTK):c.1511A>T (p.Asp504Val) http://identifiers.org/clinvar/35759 ^@ NM_000061.2(BTK):c.1673_1680delAATTTCCA (p.Lys558Serfs) http://identifiers.org/clinvar/35760 ^@ NM_000061.2(BTK):c.391+143dupA http://identifiers.org/clinvar/35761 ^@ NM_000061.2(BTK):c.472_475delACAG (p.Thr158Profs) http://identifiers.org/clinvar/35762 ^@ NM_000061.2(BTK):c.777-2A>G http://identifiers.org/clinvar/35763 ^@ NM_000061.2(BTK):c.777-3C>G http://identifiers.org/clinvar/35764 ^@ NM_000061.2(BTK):c.840-1G>A http://identifiers.org/clinvar/35765 ^@ NM_000061.2(BTK):c.895-2A>G http://identifiers.org/clinvar/35766 ^@ NM_000061.2(BTK):c.998A>G (p.His333Arg) http://identifiers.org/clinvar/35767 ^@ NM_000719.6(CACNA1C):c.171C>T (p.Asp57=) http://identifiers.org/clinvar/35768 ^@ NM_000719.6(CACNA1C):c.372-15G>A http://identifiers.org/clinvar/35769 ^@ NM_000719.6(CACNA1C):c.5680+15C>T http://identifiers.org/clinvar/35770 ^@ NM_000719.6(CACNA1C):c.6031G>A (p.Val2011Ile) http://identifiers.org/clinvar/35771 ^@ NM_000719.6(CACNA1C):c.6307G>T (p.Ala2103Ser) http://identifiers.org/clinvar/35772 ^@ NM_001232.3(CASQ2):c.731A>G (p.His244Arg) http://identifiers.org/clinvar/35773 ^@ NM_000388.3(CASR):c.1058A>C (p.Glu353Ala) http://identifiers.org/clinvar/35774 ^@ NM_000388.3(CASR):c.106G>A (p.Gly36Arg) http://identifiers.org/clinvar/35775 ^@ NM_000388.3(CASR):c.1244G>A (p.Arg415Gln) http://identifiers.org/clinvar/35776 ^@ NM_000388.3(CASR):c.1333A>G (p.Thr445Ala) http://identifiers.org/clinvar/35777 ^@ NM_000388.3(CASR):c.1512_1515delGTTT (p.Phe505Argfs) http://identifiers.org/clinvar/35778 ^@ NM_000388.3(CASR):c.1525G>A (p.Gly509Arg) http://identifiers.org/clinvar/35779 ^@ NM_000388.3(CASR):c.166delG (p.Glu56Serfs) http://identifiers.org/clinvar/35780 ^@ NM_000388.3(CASR):c.1676C>A (p.Pro559His) http://identifiers.org/clinvar/35781 ^@ NM_000388.3(CASR):c.1685G>C (p.Cys562Ser) http://identifiers.org/clinvar/35782 ^@ NM_000388.3(CASR):c.1685_1686delGCinsCT (p.Cys562Ser) http://identifiers.org/clinvar/35783 ^@ NM_000388.3(CASR):c.1686C>T (p.Cys562=) http://identifiers.org/clinvar/35784 ^@ NM_000388.3(CASR):c.1884delC (p.Phe629Leufs) http://identifiers.org/clinvar/35785 ^@ NM_000388.3(CASR):c.1934C>A (p.Ala645Asp) http://identifiers.org/clinvar/35786 ^@ NM_000388.3(CASR):c.2014C>A (p.Pro672Thr) http://identifiers.org/clinvar/35787 ^@ NM_000388.3(CASR):c.206G>A (p.Arg69His) http://identifiers.org/clinvar/35788 ^@ NM_000388.3(CASR):c.2243C>A (p.Pro748His) http://identifiers.org/clinvar/35790 ^@ NM_000388.3(CASR):c.2254C>T (p.Arg752Cys) http://identifiers.org/clinvar/35791 ^@ NM_000388.3(CASR):c.2435T>C (p.Leu812Pro) http://identifiers.org/clinvar/35792 ^@ NM_000388.3(CASR):c.2489G>A (p.Gly830Asp) http://identifiers.org/clinvar/35793 ^@ NM_000388.3(CASR):c.2644A>T (p.Lys882Ter) http://identifiers.org/clinvar/35794 ^@ NM_000388.3(CASR):c.2686delC (p.Arg896Alafs) http://identifiers.org/clinvar/35795 ^@ NM_000388.3(CASR):c.269A>C (p.Asn90Thr) http://identifiers.org/clinvar/35796 ^@ NM_000388.3(CASR):c.3063G>A (p.Thr1021=) http://identifiers.org/clinvar/35797 ^@ NM_000388.3(CASR):c.3091G>A (p.Gly1031Ser) http://identifiers.org/clinvar/35798 ^@ NM_000388.3(CASR):c.380A>G (p.Glu127Gly) http://identifiers.org/clinvar/35799 ^@ NM_000388.3(CASR):c.492+19G>A http://identifiers.org/clinvar/35800 ^@ NM_000388.3(CASR):c.496A>G (p.Ser166Gly) http://identifiers.org/clinvar/35801 ^@ NM_000388.3(CASR):c.554delG (p.Arg185Glnfs) http://identifiers.org/clinvar/35802 ^@ NM_000388.3(CASR):c.643G>C (p.Asp215His) http://identifiers.org/clinvar/35803 ^@ NM_000388.3(CASR):c.974G>A (p.Gly325Glu) http://identifiers.org/clinvar/35804 ^@ NM_033337.2(CAV3):c.417C>T (p.Val139=) http://identifiers.org/clinvar/35805 ^@ NM_000732.4(CD3D):c.450+6C>T http://identifiers.org/clinvar/35806 ^@ NM_000733.3(CD3E):c.498G>A (p.Ala166=) http://identifiers.org/clinvar/35807 ^@ NM_000733.3(CD3E):c.507C>T (p.Gly169=) http://identifiers.org/clinvar/35808 ^@ NM_000733.3(CD3E):c.567+65_567+66delGA http://identifiers.org/clinvar/35809 ^@ NM_000733.3(CD3E):c.70+4delA http://identifiers.org/clinvar/35810 ^@ NM_000733.3(CD3E):c.*98_*101dupAATC http://identifiers.org/clinvar/35811 ^@ NM_000074.2(CD40LG):c.189delT (p.Phe63Leufs) http://identifiers.org/clinvar/35812 ^@ NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) http://identifiers.org/clinvar/35813 ^@ NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) http://identifiers.org/clinvar/35814 ^@ NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) http://identifiers.org/clinvar/35815 ^@ NM_001807.4(CEL):c.1785delC (p.Val596Cysfs) http://identifiers.org/clinvar/35816 ^@ NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) http://identifiers.org/clinvar/35817 ^@ NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter) http://identifiers.org/clinvar/35818 ^@ NM_000492.3(CFTR):c.1209+18A>C http://identifiers.org/clinvar/35819 ^@ NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) http://identifiers.org/clinvar/35820 ^@ NM_000492.3(CFTR):c.1365G>A (p.Ala455=) http://identifiers.org/clinvar/35821 ^@ NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) http://identifiers.org/clinvar/35822 ^@ NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) http://identifiers.org/clinvar/35823 ^@ NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) http://identifiers.org/clinvar/35824 ^@ NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) http://identifiers.org/clinvar/35825 ^@ NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) http://identifiers.org/clinvar/35826 ^@ NM_000492.3(CFTR):c.1581A>G (p.Glu527=) http://identifiers.org/clinvar/35827 ^@ NM_000492.3(CFTR):c.1584+12T>C http://identifiers.org/clinvar/35828 ^@ NM_000492.3(CFTR):c.1585-8G>A http://identifiers.org/clinvar/35829 ^@ NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) http://identifiers.org/clinvar/35830 ^@ NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) http://identifiers.org/clinvar/35831 ^@ NM_000492.3(CFTR):c.1692delA (p.Asp565Metfs) http://identifiers.org/clinvar/35832 ^@ NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) http://identifiers.org/clinvar/35833 ^@ NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) http://identifiers.org/clinvar/35834 ^@ NM_000492.3(CFTR):c.1911delG (p.Gln637Hisfs) http://identifiers.org/clinvar/35835 ^@ NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) http://identifiers.org/clinvar/35836 ^@ NM_000492.3(CFTR):c.2012delT (p.Leu671Terfs) http://identifiers.org/clinvar/35837 ^@ NM_000492.3(CFTR):c.2051_2052delAAinsG (p.Lys684Serfs) http://identifiers.org/clinvar/35838 ^@ NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) http://identifiers.org/clinvar/35839 ^@ NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/35840 ^@ NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) http://identifiers.org/clinvar/35841 ^@ NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) http://identifiers.org/clinvar/35842 ^@ NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) http://identifiers.org/clinvar/35843 ^@ NM_000492.3(CFTR):c.2597G>A (p.Cys866Tyr) http://identifiers.org/clinvar/35844 ^@ NM_000492.3(CFTR):c.2620-15C>G http://identifiers.org/clinvar/35845 ^@ NM_000492.3(CFTR):c.273+10255delC http://identifiers.org/clinvar/35846 ^@ NM_000492.3(CFTR):c.273+3A>C http://identifiers.org/clinvar/35847 ^@ NM_000492.3(CFTR):c.2762G>A (p.Gly921Glu) http://identifiers.org/clinvar/35848 ^@ NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp) http://identifiers.org/clinvar/35849 ^@ NM_000492.3(CFTR):c.2810dupT (p.Val938Glyfs) http://identifiers.org/clinvar/35850 ^@ NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) http://identifiers.org/clinvar/35851 ^@ NM_000492.3(CFTR):c.2832G>A (p.Val944=) http://identifiers.org/clinvar/35852 ^@ NM_000492.3(CFTR):c.2835G>A (p.Ser945=) http://identifiers.org/clinvar/35853 ^@ NM_000492.3(CFTR):c.2898G>A (p.Thr966=) http://identifiers.org/clinvar/35854 ^@ NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) http://identifiers.org/clinvar/35855 ^@ NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) http://identifiers.org/clinvar/35857 ^@ NM_000492.3(CFTR):c.2988G>A (p.Gln996=) http://identifiers.org/clinvar/35858 ^@ NM_000492.3(CFTR):c.2989-2A>T http://identifiers.org/clinvar/35859 ^@ NM_000492.3(CFTR):c.3038C>A (p.Pro1013His) http://identifiers.org/clinvar/35860 ^@ NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) http://identifiers.org/clinvar/35861 ^@ NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) http://identifiers.org/clinvar/35862 ^@ NM_000492.3(CFTR):c.3139+18C>T http://identifiers.org/clinvar/35863 ^@ NM_000492.3(CFTR):c.3139+8A>G http://identifiers.org/clinvar/35864 ^@ NM_000492.3(CFTR):c.3140-26A>G http://identifiers.org/clinvar/35865 ^@ NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) http://identifiers.org/clinvar/35866 ^@ NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) http://identifiers.org/clinvar/35867 ^@ NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) http://identifiers.org/clinvar/35868 ^@ NM_000492.3(CFTR):c.3528delC (p.Lys1177Serfs) http://identifiers.org/clinvar/35869 ^@ NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) http://identifiers.org/clinvar/35870 ^@ NM_000492.3(CFTR):c.355A>G (p.Ile119Val) http://identifiers.org/clinvar/35871 ^@ NM_000492.3(CFTR):c.3691delT (p.Ser1231Profs) http://identifiers.org/clinvar/35872 ^@ NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) http://identifiers.org/clinvar/35873 ^@ NM_000492.3(CFTR):c.370G>C (p.Gly124Arg) http://identifiers.org/clinvar/35874 ^@ NM_000492.3(CFTR):c.3717+130_3717+131delAT http://identifiers.org/clinvar/35875 ^@ NM_000492.3(CFTR):c.3717+5G>A http://identifiers.org/clinvar/35876 ^@ NM_000492.3(CFTR):c.3718-2473_3718-2472insCAGAGT http://identifiers.org/clinvar/35877 ^@ NM_000492.3(CFTR):c.380_382dupTAT (p.Leu127_Cys128insLeu) http://identifiers.org/clinvar/35878 ^@ NM_000492.3(CFTR):c.3893G>C (p.Gly1298Ala) http://identifiers.org/clinvar/35879 ^@ NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320Argfs) http://identifiers.org/clinvar/35880 ^@ NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) http://identifiers.org/clinvar/35881 ^@ NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) http://identifiers.org/clinvar/35882 ^@ NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) http://identifiers.org/clinvar/35883 ^@ NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) http://identifiers.org/clinvar/35884 ^@ NM_000492.3(CFTR):c.4242+2T>C http://identifiers.org/clinvar/35885 ^@ NM_000492.3(CFTR):c.4243-35delT http://identifiers.org/clinvar/35886 ^@ NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr) http://identifiers.org/clinvar/35887 ^@ NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) http://identifiers.org/clinvar/35888 ^@ NM_000492.3(CFTR):c.743+4G>T http://identifiers.org/clinvar/35889 ^@ NM_000492.3(CFTR):c.744-9_744-6dupGATT http://identifiers.org/clinvar/35890 ^@ NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter) http://identifiers.org/clinvar/35891 ^@ NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) http://identifiers.org/clinvar/35892 ^@ NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) http://identifiers.org/clinvar/35893 ^@ NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) http://identifiers.org/clinvar/35894 ^@ NM_000492.3(CFTR):c.958T>G (p.Leu320Val) http://identifiers.org/clinvar/35895 ^@ NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) http://identifiers.org/clinvar/35896 ^@ NM_000088.3(COL1A1):c.1021G>T (p.Gly341Cys) http://identifiers.org/clinvar/35897 ^@ NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) http://identifiers.org/clinvar/35898 ^@ NM_000088.3(COL1A1):c.1200+1G>A http://identifiers.org/clinvar/35899 ^@ NM_000088.3(COL1A1):c.1235C>G (p.Pro412Arg) http://identifiers.org/clinvar/35900 ^@ NM_000088.3(COL1A1):c.1299+5G>A http://identifiers.org/clinvar/35901 ^@ NM_000088.3(COL1A1):c.1544G>C (p.Gly515Ala) http://identifiers.org/clinvar/35902 ^@ NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) http://identifiers.org/clinvar/35903 ^@ NM_000088.3(COL1A1):c.1657delA (p.Thr553Leufs) http://identifiers.org/clinvar/35904 ^@ NM_000088.3(COL1A1):c.1768-8C>T http://identifiers.org/clinvar/35905 ^@ NM_000088.3(COL1A1):c.1812delT (p.Gly605Alafs) http://identifiers.org/clinvar/35906 ^@ NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) http://identifiers.org/clinvar/35907 ^@ NM_000088.3(COL1A1):c.2062C>T (p.Gln688Ter) http://identifiers.org/clinvar/35908 ^@ NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) http://identifiers.org/clinvar/35909 ^@ NM_000088.3(COL1A1):c.2236-17C>G http://identifiers.org/clinvar/35910 ^@ NM_000088.3(COL1A1):c.2398-1G>C http://identifiers.org/clinvar/35911 ^@ NM_000088.3(COL1A1):c.2418delT (p.Gly809Alafs) http://identifiers.org/clinvar/35912 ^@ NM_000088.3(COL1A1):c.2450delC (p.Pro817Leufs) http://identifiers.org/clinvar/35913 ^@ NM_000088.3(COL1A1):c.2452-23delC http://identifiers.org/clinvar/35914 ^@ NM_000088.3(COL1A1):c.2594G>A (p.Arg865His) http://identifiers.org/clinvar/35915 ^@ NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) http://identifiers.org/clinvar/35916 ^@ NM_000088.3(COL1A1):c.2685delT (p.Gly896Alafs) http://identifiers.org/clinvar/35917 ^@ NM_000088.3(COL1A1):c.2897A>G (p.Gln966Arg) http://identifiers.org/clinvar/35918 ^@ NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) http://identifiers.org/clinvar/35919 ^@ NM_000088.3(COL1A1):c.299_300delAG (p.Glu100Valfs) http://identifiers.org/clinvar/35920 ^@ NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) http://identifiers.org/clinvar/35921 ^@ NM_000088.3(COL1A1):c.370-2A>G http://identifiers.org/clinvar/35922 ^@ NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) http://identifiers.org/clinvar/35923 ^@ NM_000088.3(COL1A1):c.4006-9C>T http://identifiers.org/clinvar/35924 ^@ NM_000088.3(COL1A1):c.517G>T (p.Gly173Ter) http://identifiers.org/clinvar/35925 ^@ NM_000088.3(COL1A1):c.579delT (p.Gly194Valfs) http://identifiers.org/clinvar/35926 ^@ NM_000088.3(COL1A1):c.612C>T (p.Pro204=) http://identifiers.org/clinvar/35927 ^@ NM_000088.3(COL1A1):c.642+25T>C http://identifiers.org/clinvar/35928 ^@ NM_000088.3(COL1A1):c.751-2A>G http://identifiers.org/clinvar/35929 ^@ NM_000088.3(COL1A1):c.805G>A (p.Gly269Ser) http://identifiers.org/clinvar/35930 ^@ NM_000088.3(COL1A1):c.904-9G>T http://identifiers.org/clinvar/35931 ^@ NM_000088.3(COL1A1):c.999C>T (p.Pro333=) http://identifiers.org/clinvar/35932 ^@ NM_000089.3(COL1A2):c.1036-14G>A http://identifiers.org/clinvar/35933 ^@ NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) http://identifiers.org/clinvar/35934 ^@ NM_000089.3(COL1A2):c.1295G>A (p.Arg432Gln) http://identifiers.org/clinvar/35935 ^@ NM_000089.3(COL1A2):c.1350+11A>T http://identifiers.org/clinvar/35936 ^@ NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) http://identifiers.org/clinvar/35937 ^@ NM_000089.3(COL1A2):c.1557+5G>T http://identifiers.org/clinvar/35938 ^@ NM_000089.3(COL1A2):c.1873G>A (p.Gly625Ser) http://identifiers.org/clinvar/35939 ^@ NM_000089.3(COL1A2):c.1991G>A (p.Gly664Asp) http://identifiers.org/clinvar/35940 ^@ NM_000089.3(COL1A2):c.2082C>A (p.Gly694=) http://identifiers.org/clinvar/35941 ^@ NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) http://identifiers.org/clinvar/35942 ^@ NM_000089.3(COL1A2):c.2781+13C>G http://identifiers.org/clinvar/35943 ^@ NM_000089.3(COL1A2):c.2782-19T>G http://identifiers.org/clinvar/35944 ^@ NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) http://identifiers.org/clinvar/35945 ^@ NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) http://identifiers.org/clinvar/35946 ^@ NM_000089.3(COL1A2):c.3106-2delA http://identifiers.org/clinvar/35947 ^@ NM_000089.3(COL1A2):c.3284delC (p.Pro1095Leufs) http://identifiers.org/clinvar/35948 ^@ NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) http://identifiers.org/clinvar/35949 ^@ NM_000089.3(COL1A2):c.3355G>C (p.Ala1119Pro) http://identifiers.org/clinvar/35950 ^@ NM_000089.3(COL1A2):c.3435G>A (p.Gln1145=) http://identifiers.org/clinvar/35951 ^@ NM_000089.3(COL1A2):c.4048G>A (p.Gly1350Ser) http://identifiers.org/clinvar/35952 ^@ NM_000089.3(COL1A2):c.486+15A>G http://identifiers.org/clinvar/35953 ^@ NM_000089.3(COL1A2):c.594+118delT http://identifiers.org/clinvar/35954 ^@ NM_000089.3(COL1A2):c.639+19A>T http://identifiers.org/clinvar/35955 ^@ NM_000089.3(COL1A2):c.677G>A (p.Gly226Asp) http://identifiers.org/clinvar/35956 ^@ NM_000089.3(COL1A2):c.81+11delC http://identifiers.org/clinvar/35957 ^@ NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser) http://identifiers.org/clinvar/35958 ^@ NM_000089.3(COL1A2):c.848_850delGTG (p.Gly283del) http://identifiers.org/clinvar/35959 ^@ NM_000089.3(COL1A2):c.945C>T (p.Pro315=) http://identifiers.org/clinvar/35960 ^@ NM_000089.3(COL1A2):c.948C>T (p.Gly316=) http://identifiers.org/clinvar/35961 ^@ NM_000090.3(COL3A1):c.1293+15T>A http://identifiers.org/clinvar/35962 ^@ NM_000090.3(COL3A1):c.1691G>C (p.Gly564Ala) http://identifiers.org/clinvar/35963 ^@ NM_000090.3(COL3A1):c.1816-19T>C http://identifiers.org/clinvar/35964 ^@ NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) http://identifiers.org/clinvar/35965 ^@ NM_000090.3(COL3A1):c.696A>G (p.Glu232=) http://identifiers.org/clinvar/35966 ^@ NM_003476.4(CSRP3):c.365G>A (p.Arg122Gln) http://identifiers.org/clinvar/35967 ^@ NM_000397.3(CYBB):c.1140dupG (p.Lys381Glufs) http://identifiers.org/clinvar/35968 ^@ NM_000397.3(CYBB):c.1314+19C>T http://identifiers.org/clinvar/35969 ^@ NM_000397.3(CYBB):c.15delT (p.Val6Terfs) http://identifiers.org/clinvar/35970 ^@ NM_000397.3(CYBB):c.1601T>A (p.Val534Asp) http://identifiers.org/clinvar/35971 ^@ NM_000397.3(CYBB):c.338-13C>T http://identifiers.org/clinvar/35972 ^@ NM_000397.3(CYBB):c.389G>C (p.Arg130Pro) http://identifiers.org/clinvar/35973 ^@ NM_000397.3(CYBB):c.46-7T>C http://identifiers.org/clinvar/35974 ^@ NM_000397.3(CYBB):c.607G>T (p.Glu203Ter) http://identifiers.org/clinvar/35975 ^@ NM_000397.3(CYBB):c.654C>A (p.Gly218=) http://identifiers.org/clinvar/35976 ^@ NM_000397.3(CYBB):c.66C>T (p.Asn22=) http://identifiers.org/clinvar/35977 ^@ NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) http://identifiers.org/clinvar/35978 ^@ NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) http://identifiers.org/clinvar/35979 ^@ NM_000497.3(CYP11B1):c.1015_1016delGCinsAT (p.Ala339Ile) http://identifiers.org/clinvar/35980 ^@ NM_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) http://identifiers.org/clinvar/35981 ^@ NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) http://identifiers.org/clinvar/35982 ^@ NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) http://identifiers.org/clinvar/35983 ^@ NM_000497.3(CYP11B1):c.1122-12C>T http://identifiers.org/clinvar/35984 ^@ NM_000497.3(CYP11B1):c.1122-20A>G http://identifiers.org/clinvar/35985 ^@ NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) http://identifiers.org/clinvar/35986 ^@ NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) http://identifiers.org/clinvar/35987 ^@ NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) http://identifiers.org/clinvar/35988 ^@ NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) http://identifiers.org/clinvar/35989 ^@ NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) http://identifiers.org/clinvar/35990 ^@ NM_000497.3(CYP11B1):c.799+2T>C http://identifiers.org/clinvar/35991 ^@ NM_000497.3(CYP11B1):c.799+5G>C http://identifiers.org/clinvar/35992 ^@ NM_000500.7(CYP21A2):c.1287C>T (p.Cys429=) http://identifiers.org/clinvar/35993 ^@ NM_000500.7(CYP21A2):c.293-7C>G http://identifiers.org/clinvar/35994 ^@ NM_000500.7(CYP21A2):c.327C>G (p.Ser109=) http://identifiers.org/clinvar/35995 ^@ NM_000500.7(CYP21A2):c.342C>T (p.Ser114=) http://identifiers.org/clinvar/35996 ^@ NM_000500.7(CYP21A2):c.738+12_738+13delACinsGT http://identifiers.org/clinvar/35998 ^@ NM_001033857.2(DCLRE1C):c.97G>A (p.Gly33Arg) http://identifiers.org/clinvar/35999 ^@ NM_001033857.2(DCLRE1C):c.152C>G (p.Pro51Arg) http://identifiers.org/clinvar/36000 ^@ NM_001033857.2(DCLRE1C):c.283C>T (p.Leu95=) http://identifiers.org/clinvar/36001 ^@ NM_001927.3(DES):c.669T>C (p.Ile223=) http://identifiers.org/clinvar/36002 ^@ NM_001927.3(DES):c.75A>G (p.Pro25=) http://identifiers.org/clinvar/36003 ^@ NM_001927.3(DES):c.93T>C (p.Ser31=) http://identifiers.org/clinvar/36004 ^@ NM_024422.4(DSC2):c.1350A>G (p.Arg450=) http://identifiers.org/clinvar/36005 ^@ NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) http://identifiers.org/clinvar/36006 ^@ NM_024422.4(DSC2):c.2393G>A (p.Arg798Gln) http://identifiers.org/clinvar/36007 ^@ NM_024422.4(DSC2):c.835C>T (p.Arg279Cys) http://identifiers.org/clinvar/36008 ^@ NM_004949.4(DSC2):c.942+16A>T http://identifiers.org/clinvar/36009 ^@ NM_001943.4(DSG2):c.1174G>A (p.Val392Ile) http://identifiers.org/clinvar/36010 ^@ NM_001943.4(DSG2):c.1543G>A (p.Val515Ile) http://identifiers.org/clinvar/36011 ^@ NM_001943.4(DSG2):c.2647T>C (p.Ser883Pro) http://identifiers.org/clinvar/36012 ^@ NM_001943.4(DSG2):c.2708C>T (p.Thr903Ile) http://identifiers.org/clinvar/36013 ^@ NM_001943.4(DSG2):c.3135A>C (p.Thr1045=) http://identifiers.org/clinvar/36014 ^@ NM_001943.4(DSG2):c.877A>T (p.Ile293Leu) http://identifiers.org/clinvar/36015 ^@ NM_004415.3(DSP):c.1dupA (p.Met1Asnfs) http://identifiers.org/clinvar/36016 ^@ NM_004415.3(DSP):c.105G>A (p.Gly35=) http://identifiers.org/clinvar/36017 ^@ NM_004415.3(DSP):c.1384_1386delATT (p.Ile462del) http://identifiers.org/clinvar/36018 ^@ NM_004415.3(DSP):c.1702-18C>T http://identifiers.org/clinvar/36019 ^@ NM_004415.3(DSP):c.1903+7T>C http://identifiers.org/clinvar/36020 ^@ NM_004415.3(DSP):c.2815G>A (p.Gly939Ser) http://identifiers.org/clinvar/36021 ^@ NM_004415.3(DSP):c.4773G>A (p.Arg1591=) http://identifiers.org/clinvar/36022 ^@ NM_004415.3(DSP):c.5555G>A (p.Arg1852His) http://identifiers.org/clinvar/36023 ^@ NM_004415.3(DSP):c.6153C>G (p.Ala2051=) http://identifiers.org/clinvar/36024 ^@ NM_004415.3(DSP):c.7964C>G (p.Ala2655Gly) http://identifiers.org/clinvar/36025 ^@ NM_004415.3(DSP):c.8301C>G (p.Thr2767=) http://identifiers.org/clinvar/36026 ^@ NM_004415.3(DSP):c.913A>T (p.Ile305Phe) http://identifiers.org/clinvar/36027 ^@ NM_001390.4(DTNA):c.1822+8G>A http://identifiers.org/clinvar/36028 ^@ NM_001390.4(DTNA):c.2081+14G>A http://identifiers.org/clinvar/36029 ^@ NM_001390.4(DTNA):c.210G>A (p.Leu70=) http://identifiers.org/clinvar/36030 ^@ NM_000117.2(EMD):c.470G>A (p.Arg157Gln) http://identifiers.org/clinvar/36031 ^@ NM_004100.4(EYA4):c.1845C>T (p.Asn615=) http://identifiers.org/clinvar/36032 ^@ NM_000138.4(FBN1):c.-117delA http://identifiers.org/clinvar/36033 ^@ NM_000138.4(FBN1):c.1211delC (p.Pro404Hisfs) http://identifiers.org/clinvar/36034 ^@ NM_000138.4(FBN1):c.1634G>A (p.Arg545His) http://identifiers.org/clinvar/36035 ^@ NM_000138.4(FBN1):c.165-32delT http://identifiers.org/clinvar/36036 ^@ NM_000138.4(FBN1):c.165-40_165-38delCTT http://identifiers.org/clinvar/36037 ^@ NM_000138.4(FBN1):c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla) http://identifiers.org/clinvar/36038 ^@ NM_000138.4(FBN1):c.1709delG (p.Cys570Leufs) http://identifiers.org/clinvar/36039 ^@ NM_000138.4(FBN1):c.1710T>A (p.Cys570Ter) http://identifiers.org/clinvar/36040 ^@ NM_000138.4(FBN1):c.1714+54delA http://identifiers.org/clinvar/36041 ^@ NM_000138.4(FBN1):c.1746C>T (p.Cys582=) http://identifiers.org/clinvar/36042 ^@ NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) http://identifiers.org/clinvar/36043 ^@ NM_000138.4(FBN1):c.2055C>G (p.Cys685Trp) http://identifiers.org/clinvar/36044 ^@ NM_000138.4(FBN1):c.2055C>T (p.Cys685=) http://identifiers.org/clinvar/36045 ^@ NM_000138.4(FBN1):c.2057C>A (p.Ala686Asp) http://identifiers.org/clinvar/36046 ^@ NM_000138.4(FBN1):c.2186delT (p.Leu729Glnfs) http://identifiers.org/clinvar/36047 ^@ NM_000138.4(FBN1):c.2369G>C (p.Cys790Ser) http://identifiers.org/clinvar/36048 ^@ NM_000138.4(FBN1):c.2420-58delT http://identifiers.org/clinvar/36049 ^@ NM_000138.4(FBN1):c.2433C>A (p.Cys811Ter) http://identifiers.org/clinvar/36050 ^@ NM_000138.4(FBN1):c.2433C>T (p.Cys811=) http://identifiers.org/clinvar/36051 ^@ NM_000138.4(FBN1):c.2479T>C (p.Ser827Pro) http://identifiers.org/clinvar/36052 ^@ NM_000138.4(FBN1):c.2508T>A (p.Ser836Arg) http://identifiers.org/clinvar/36053 ^@ NM_000138.4(FBN1):c.2542A>C (p.Thr848Pro) http://identifiers.org/clinvar/36054 ^@ NM_000138.4(FBN1):c.2658G>A (p.Pro886=) http://identifiers.org/clinvar/36055 ^@ NM_000138.4(FBN1):c.266G>C (p.Cys89Ser) http://identifiers.org/clinvar/36056 ^@ NM_000138.4(FBN1):c.2677G>C (p.Asp893His) http://identifiers.org/clinvar/36057 ^@ NM_000138.4(FBN1):c.2682delC (p.Ile895Tyrfs) http://identifiers.org/clinvar/36058 ^@ NM_000138.4(FBN1):c.2855-1G>C http://identifiers.org/clinvar/36059 ^@ NM_000138.4(FBN1):c.2855-8T>C http://identifiers.org/clinvar/36060 ^@ NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) http://identifiers.org/clinvar/36061 ^@ NM_000138.4(FBN1):c.3026C>G (p.Pro1009Arg) http://identifiers.org/clinvar/36062 ^@ NM_000138.4(FBN1):c.3082+8delG http://identifiers.org/clinvar/36063 ^@ NM_000138.4(FBN1):c.3140_3141delCC (p.Thr1047Asnfs) http://identifiers.org/clinvar/36064 ^@ NM_000138.4(FBN1):c.3193delG (p.Glu1065Lysfs) http://identifiers.org/clinvar/36065 ^@ NM_000138.4(FBN1):c.3442C>G (p.Pro1148Ala) http://identifiers.org/clinvar/36066 ^@ NM_000138.4(FBN1):c.3478G>T (p.Glu1160Ter) http://identifiers.org/clinvar/36067 ^@ NM_000138.4(FBN1):c.3560A>G (p.His1187Arg) http://identifiers.org/clinvar/36068 ^@ NM_000138.4(FBN1):c.3589+31_3589+40dupTTTTATTTTA http://identifiers.org/clinvar/36069 ^@ NM_000138.4(FBN1):c.3589+36_3589+40dupTTTTA http://identifiers.org/clinvar/36070 ^@ FBN1:c.3589+62_3589+71del http://identifiers.org/clinvar/36071 ^@ NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) http://identifiers.org/clinvar/36072 ^@ NM_000138.4(FBN1):c.3965-8T>C http://identifiers.org/clinvar/36073 ^@ NM_000138.4(FBN1):c.4165T>G (p.Cys1389Gly) http://identifiers.org/clinvar/36074 ^@ NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) http://identifiers.org/clinvar/36075 ^@ NM_000138.4(FBN1):c.4460-8G>A http://identifiers.org/clinvar/36076 ^@ NM_000138.4(FBN1):c.4467T>A (p.Asn1489Lys) http://identifiers.org/clinvar/36077 ^@ NM_000138.4(FBN1):c.454A>T (p.Ser152Cys) http://identifiers.org/clinvar/36078 ^@ NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) http://identifiers.org/clinvar/36079 ^@ NM_000138.4(FBN1):c.4684T>A (p.Cys1562Ser) http://identifiers.org/clinvar/36080 ^@ NM_000138.4(FBN1):c.4704A>G (p.Lys1568=) http://identifiers.org/clinvar/36081 ^@ NM_000138.4(FBN1):c.4747+5G>C http://identifiers.org/clinvar/36082 ^@ NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter) http://identifiers.org/clinvar/36083 ^@ NM_000138.4(FBN1):c.484G>A (p.Ala162Thr) http://identifiers.org/clinvar/36084 ^@ NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) http://identifiers.org/clinvar/36085 ^@ NM_000138.4(FBN1):c.510C>G (p.Tyr170Ter) http://identifiers.org/clinvar/36086 ^@ NM_000138.4(FBN1):c.510C>T (p.Tyr170=) http://identifiers.org/clinvar/36087 ^@ NM_000138.4(FBN1):c.539-15delA http://identifiers.org/clinvar/36088 ^@ NM_000138.4(FBN1):c.5521_5528delTTCACCTC (p.Phe1841Hisfs) http://identifiers.org/clinvar/36089 ^@ NM_000138.4(FBN1):c.5545+12C>T http://identifiers.org/clinvar/36090 ^@ NM_000138.4(FBN1):c.5552A>G (p.Asn1851Ser) http://identifiers.org/clinvar/36091 ^@ NM_000138.4(FBN1):c.556T>C (p.Cys186Arg) http://identifiers.org/clinvar/36092 ^@ NM_000138.4(FBN1):c.5671G>C (p.Asp1891His) http://identifiers.org/clinvar/36093 ^@ NM_000138.4(FBN1):c.5672-3T>C http://identifiers.org/clinvar/36094 ^@ NM_000138.4(FBN1):c.56C>T (p.Ser19Phe) http://identifiers.org/clinvar/36095 ^@ NM_000138.4(FBN1):c.5788+5G>T http://identifiers.org/clinvar/36096 ^@ NM_000138.4(FBN1):c.6006_6012dupTGGATAC (p.Ser2005Trpfs) http://identifiers.org/clinvar/36097 ^@ NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) http://identifiers.org/clinvar/36098 ^@ NM_000138.4(FBN1):c.6120T>C (p.Cys2040=) http://identifiers.org/clinvar/36099 ^@ NM_000138.4(FBN1):c.6380-83delT http://identifiers.org/clinvar/36100 ^@ NM_000138.4(FBN1):c.6385G>T (p.Asp2129Tyr) http://identifiers.org/clinvar/36101 ^@ NM_000138.4(FBN1):c.649T>G (p.Trp217Gly) http://identifiers.org/clinvar/36102 ^@ NM_000138.4(FBN1):c.6553_6556dupATTG (p.Gly2186Aspfs) http://identifiers.org/clinvar/36103 ^@ NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) http://identifiers.org/clinvar/36104 ^@ NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) http://identifiers.org/clinvar/36105 ^@ NM_000138.4(FBN1):c.6704delG (p.Gly2235Aspfs) http://identifiers.org/clinvar/36106 ^@ NM_000138.4(FBN1):c.6793_6800dupTGCAAGAA (p.Leu2268Alafs) http://identifiers.org/clinvar/36107 ^@ NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) http://identifiers.org/clinvar/36108 ^@ NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) http://identifiers.org/clinvar/36109 ^@ NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) http://identifiers.org/clinvar/36110 ^@ NM_000138.4(FBN1):c.6998-40delA http://identifiers.org/clinvar/36111 ^@ NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) http://identifiers.org/clinvar/36112 ^@ NM_000138.4(FBN1):c.7229A>C (p.His2410Pro) http://identifiers.org/clinvar/36113 ^@ NM_000138.4(FBN1):c.7230C>T (p.His2410=) http://identifiers.org/clinvar/36114 ^@ NM_000138.4(FBN1):c.7407A>G (p.Ser2469=) http://identifiers.org/clinvar/36115 ^@ NM_000138.4(FBN1):c.7412C>G (p.Pro2471Arg) http://identifiers.org/clinvar/36116 ^@ NM_000138.4(FBN1):c.7666T>G (p.Phe2556Val) http://identifiers.org/clinvar/36117 ^@ NM_000138.4(FBN1):c.7678delC (p.Gln2560Argfs) http://identifiers.org/clinvar/36118 ^@ NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) http://identifiers.org/clinvar/36119 ^@ NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter) http://identifiers.org/clinvar/36120 ^@ NM_000138.4(FBN1):c.7820-3C>G http://identifiers.org/clinvar/36121 ^@ NM_000138.4(FBN1):c.7839C>T (p.Ser2613=) http://identifiers.org/clinvar/36122 ^@ NM_000138.4(FBN1):c.7879G>A (p.Gly2627Arg) http://identifiers.org/clinvar/36123 ^@ NM_000138.4(FBN1):c.7898G>C (p.Cys2633Ser) http://identifiers.org/clinvar/36124 ^@ NM_000138.4(FBN1):c.7999G>A (p.Glu2667Lys) http://identifiers.org/clinvar/36125 ^@ NM_000138.4(FBN1):c.8203delG (p.Glu2735Lysfs) http://identifiers.org/clinvar/36126 ^@ NM_000138.4(FBN1):c.8219A>G (p.Asn2740Ser) http://identifiers.org/clinvar/36127 ^@ NM_000138.4(FBN1):c.8226+5G>T http://identifiers.org/clinvar/36128 ^@ NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) http://identifiers.org/clinvar/36129 ^@ NM_000138.4(FBN1):c.8311G>A (p.Val2771Ile) http://identifiers.org/clinvar/36130 ^@ NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) http://identifiers.org/clinvar/36131 ^@ NM_000138.4(FBN1):c.8412_8417delTAAAAT (p.Lys2805_Ile2806del) http://identifiers.org/clinvar/36132 ^@ NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) http://identifiers.org/clinvar/36133 ^@ NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) http://identifiers.org/clinvar/36134 ^@ NM_020638.2(FGF23):c.162G>C (p.Gln54His) http://identifiers.org/clinvar/36135 ^@ NM_020638.2(FGF23):c.536G>A (p.Arg179Gln) http://identifiers.org/clinvar/36136 ^@ NM_006731.2(FKTN):c.1023G>A (p.Pro341=) http://identifiers.org/clinvar/36137 ^@ NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) http://identifiers.org/clinvar/36138 ^@ NM_001079802.1(FKTN):c.1336A>G (p.Asn446Asp) http://identifiers.org/clinvar/36139 ^@ NM_006731.2(FKTN):c.166-4A>G http://identifiers.org/clinvar/36140 ^@ NM_001079802.1(FKTN):c.166-6A>G http://identifiers.org/clinvar/36143 ^@ NM_000155.3(GALT):c.203A>C (p.His68Pro) http://identifiers.org/clinvar/36145 ^@ NM_000155.3(GALT):c.385A>T (p.Met129Leu) http://identifiers.org/clinvar/36147 ^@ NM_000155.3(GALT):c.498T>C (p.Pro166=) http://identifiers.org/clinvar/36148 ^@ NM_000155.3(GALT):c.508-17G>A http://identifiers.org/clinvar/36155 ^@ NM_000155.3(GALT):c.687+1G>T http://identifiers.org/clinvar/36158 ^@ NM_000155.3(GALT):c.876G>A (p.Thr292=) http://identifiers.org/clinvar/36160 ^@ NM_000155.3(GALT):c.945T>C (p.His315=) http://identifiers.org/clinvar/36163 ^@ NM_000162.3(GCK):c.-5T>C http://identifiers.org/clinvar/36164 ^@ NM_000162.3(GCK):c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet) http://identifiers.org/clinvar/36165 ^@ NM_000162.3(GCK):c.1003_1004insAA (p.Val335Glufs) http://identifiers.org/clinvar/36166 ^@ NM_000162.3(GCK):c.1003delG (p.Val335Cysfs) http://identifiers.org/clinvar/36167 ^@ NM_000162.3(GCK):c.1018A>G (p.Ser340Gly) http://identifiers.org/clinvar/36168 ^@ NM_000162.3(GCK):c.1019+16G>A http://identifiers.org/clinvar/36169 ^@ NM_000162.3(GCK):c.1020-10C>A http://identifiers.org/clinvar/36170 ^@ NM_000162.3(GCK):c.1020-1G>C http://identifiers.org/clinvar/36171 ^@ NM_000162.3(GCK):c.103A>T (p.Arg35Ter) http://identifiers.org/clinvar/36172 ^@ NM_000162.3(GCK):c.1042A>T (p.Ile348Phe) http://identifiers.org/clinvar/36173 ^@ NM_000162.3(GCK):c.107G>C (p.Arg36Pro) http://identifiers.org/clinvar/36174 ^@ NM_000162.3(GCK):c.1114G>T (p.Glu372Ter) http://identifiers.org/clinvar/36175 ^@ NM_000162.3(GCK):c.1124C>T (p.Ser375Phe) http://identifiers.org/clinvar/36176 ^@ NM_000162.3(GCK):c.1130G>A (p.Arg377His) http://identifiers.org/clinvar/36177 ^@ NM_000162.3(GCK):c.1136C>A (p.Ala379Glu) http://identifiers.org/clinvar/36178 ^@ NM_000162.3(GCK):c.1142T>G (p.Met381Arg) http://identifiers.org/clinvar/36179 ^@ NM_000162.3(GCK):c.1153G>A (p.Gly385Arg) http://identifiers.org/clinvar/36180 ^@ NM_000162.3(GCK):c.1157T>C (p.Leu386Pro) http://identifiers.org/clinvar/36181 ^@ NM_000162.3(GCK):c.1160C>A (p.Ala387Glu) http://identifiers.org/clinvar/36182 ^@ NM_000162.3(GCK):c.1160C>T (p.Ala387Val) http://identifiers.org/clinvar/36183 ^@ NM_000162.3(GCK):c.1169T>A (p.Ile390Asn) http://identifiers.org/clinvar/36184 ^@ NM_000162.3(GCK):c.1169T>C (p.Ile390Thr) http://identifiers.org/clinvar/36185 ^@ NM_000162.3(GCK):c.1175G>T (p.Arg392Leu) http://identifiers.org/clinvar/36186 ^@ NM_000162.3(GCK):c.117G>A (p.Lys39=) http://identifiers.org/clinvar/36187 ^@ NM_000162.3(GCK):c.1207C>G (p.Arg403Gly) http://identifiers.org/clinvar/36188 ^@ NM_000162.3(GCK):c.1240A>G (p.Lys414Glu) http://identifiers.org/clinvar/36189 ^@ NM_000162.3(GCK):c.1268T>A (p.Phe423Tyr) http://identifiers.org/clinvar/36190 ^@ NM_000162.3(GCK):c.1279_1358del80insTTACA (p.Val427_Ser453delinsLeuGln) http://identifiers.org/clinvar/36191 ^@ NM_000162.3(GCK):c.1283_1284delGC (p.Arg428Glnfs) http://identifiers.org/clinvar/36192 ^@ NM_000162.3(GCK):c.1285A>C (p.Arg429=) http://identifiers.org/clinvar/36193 ^@ NM_000162.3(GCK):c.1288C>T (p.Leu430=) http://identifiers.org/clinvar/36194 ^@ NM_000162.3(GCK):c.1289T>C (p.Leu430Pro) http://identifiers.org/clinvar/36195 ^@ NM_000162.3(GCK):c.1307T>A (p.Ile436Asn) http://identifiers.org/clinvar/36196 ^@ NM_000162.3(GCK):c.131G>A (p.Gly44Asp) http://identifiers.org/clinvar/36197 ^@ NM_000162.3(GCK):c.1332delC (p.Ser445Valfs) http://identifiers.org/clinvar/36198 ^@ NM_000162.3(GCK):c.1339C>G (p.Arg447Gly) http://identifiers.org/clinvar/36199 ^@ NM_000162.3(GCK):c.1345G>A (p.Ala449Thr) http://identifiers.org/clinvar/36200 ^@ NM_000162.3(GCK):c.1358C>T (p.Ser453Leu) http://identifiers.org/clinvar/36201 ^@ NM_000162.3(GCK):c.1372_1373delAA (p.Lys458Glufs) http://identifiers.org/clinvar/36202 ^@ NM_000162.3(GCK):c.1386G>T (p.Met462Ile) http://identifiers.org/clinvar/36203 ^@ p.X466Trp http://identifiers.org/clinvar/36204 ^@ NM_000162.3(GCK):c.146C>A (p.Thr49Asn) http://identifiers.org/clinvar/36205 ^@ NM_000162.3(GCK):c.175C>T (p.Pro59Ser) http://identifiers.org/clinvar/36206 ^@ NM_000162.3(GCK):c.208+11G>A http://identifiers.org/clinvar/36207 ^@ NM_000162.3(GCK):c.208+9T>A http://identifiers.org/clinvar/36208 ^@ NM_000162.3(GCK):c.209-8G>A http://identifiers.org/clinvar/36209 ^@ NM_000162.3(GCK):c.214G>A (p.Gly72Arg) http://identifiers.org/clinvar/36210 ^@ NM_000162.3(GCK):c.253A>T (p.Arg85Trp) http://identifiers.org/clinvar/36211 ^@ NM_000162.3(GCK):c.304A>T (p.Lys102Ter) http://identifiers.org/clinvar/36212 ^@ NM_000162.3(GCK):c.322T>G (p.Tyr108Asp) http://identifiers.org/clinvar/36213 ^@ NM_000162.3(GCK):c.339C>T (p.Asp113=) http://identifiers.org/clinvar/36214 ^@ NM_000162.3(GCK):c.364-35dupC http://identifiers.org/clinvar/36215 ^@ NM_000162.3(GCK):c.364-48dupC http://identifiers.org/clinvar/36216 ^@ NM_000162.3(GCK):c.393delC (p.Asp132Thrfs) http://identifiers.org/clinvar/36217 ^@ NM_000162.3(GCK):c.440G>A (p.Gly147Asp) http://identifiers.org/clinvar/36218 ^@ NM_000162.3(GCK):c.449T>C (p.Phe150Ser) http://identifiers.org/clinvar/36219 ^@ NM_000162.3(GCK):c.45+11C>G http://identifiers.org/clinvar/36220 ^@ NM_000162.3(GCK):c.450C>T (p.Phe150=) http://identifiers.org/clinvar/36221 ^@ NM_000162.3(GCK):c.457C>T (p.Pro153Ser) http://identifiers.org/clinvar/36222 ^@ NM_000162.3(GCK):c.46-12C>T http://identifiers.org/clinvar/36223 ^@ NM_000162.3(GCK):c.463A>G (p.Arg155Gly) http://identifiers.org/clinvar/36224 ^@ NM_000162.3(GCK):c.483G>A (p.Lys161=) http://identifiers.org/clinvar/36225 ^@ NM_000162.3(GCK):c.509G>T (p.Gly170Val) http://identifiers.org/clinvar/36226 ^@ NM_000162.3(GCK):c.527C>G (p.Ala176Gly) http://identifiers.org/clinvar/36227 ^@ NM_000162.3(GCK):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/36228 ^@ NM_000162.3(GCK):c.542T>C (p.Val181Ala) http://identifiers.org/clinvar/36229 ^@ NM_000162.3(GCK):c.563C>T (p.Ala188Val) http://identifiers.org/clinvar/36230 ^@ NM_000162.3(GCK):c.57C>G (p.Ile19Met) http://identifiers.org/clinvar/36231 ^@ NM_000162.3(GCK):c.587A>G (p.Glu196Gly) http://identifiers.org/clinvar/36232 ^@ NM_000162.3(GCK):c.604A>G (p.Met202Val) http://identifiers.org/clinvar/36233 ^@ NM_000162.3(GCK):c.605T>C (p.Met202Thr) http://identifiers.org/clinvar/36234 ^@ NM_000162.3(GCK):c.615C>G (p.Asp205Glu) http://identifiers.org/clinvar/36235 ^@ NM_000162.3(GCK):c.618G>A (p.Thr206=) http://identifiers.org/clinvar/36236 ^@ NM_000162.3(GCK):c.630G>T (p.Met210Ile) http://identifiers.org/clinvar/36237 ^@ NM_000162.3(GCK):c.635_637delCCT (p.Ser212del) http://identifiers.org/clinvar/36238 ^@ NM_000162.3(GCK):c.645C>G (p.Tyr215Ter) http://identifiers.org/clinvar/36239 ^@ NM_000162.3(GCK):c.658T>C (p.Cys220Arg) http://identifiers.org/clinvar/36240 ^@ NM_000162.3(GCK):c.659G>A (p.Cys220Tyr) http://identifiers.org/clinvar/36241 ^@ NM_000162.3(GCK):c.661G>A (p.Glu221Lys) http://identifiers.org/clinvar/36242 ^@ NM_000162.3(GCK):c.666C>T (p.Val222=) http://identifiers.org/clinvar/36243 ^@ NM_000162.3(GCK):c.676G>A (p.Val226Met) http://identifiers.org/clinvar/36244 ^@ NM_000162.3(GCK):c.677T>C (p.Val226Ala) http://identifiers.org/clinvar/36245 ^@ NM_000162.3(GCK):c.679+1delG http://identifiers.org/clinvar/36246 ^@ NM_000162.3(GCK):c.680-91dupG http://identifiers.org/clinvar/36247 ^@ NM_000162.3(GCK):c.694G>A (p.Ala232Thr) http://identifiers.org/clinvar/36248 ^@ NM_000162.3(GCK):c.704T>C (p.Met235Thr) http://identifiers.org/clinvar/36249 ^@ NM_000162.3(GCK):c.723G>A (p.Val241=) http://identifiers.org/clinvar/36250 ^@ NM_000162.3(GCK):c.74T>G (p.Leu25Arg) http://identifiers.org/clinvar/36251 ^@ NM_000162.3(GCK):c.752T>C (p.Met251Thr) http://identifiers.org/clinvar/36252 ^@ NM_000162.3(GCK):c.758T>C (p.Val253Ala) http://identifiers.org/clinvar/36253 ^@ NM_000162.3(GCK):c.758T>G (p.Val253Gly) http://identifiers.org/clinvar/36254 ^@ NM_000162.3(GCK):c.760A>C (p.Asn254His) http://identifiers.org/clinvar/36255 ^@ NM_000162.3(GCK):c.768G>C (p.Glu256Asp) http://identifiers.org/clinvar/36256 ^@ NM_000162.3(GCK):c.76C>T (p.Gln26Ter) http://identifiers.org/clinvar/36257 ^@ NM_000162.3(GCK):c.779T>C (p.Phe260Ser) http://identifiers.org/clinvar/36258 ^@ NM_000162.3(GCK):c.787T>C (p.Ser263Pro) http://identifiers.org/clinvar/36259 ^@ NM_000162.3(GCK):c.812T>C (p.Leu271Pro) http://identifiers.org/clinvar/36260 ^@ NM_000162.3(GCK):c.833A>T (p.Asp278Val) http://identifiers.org/clinvar/36261 ^@ NM_000162.3(GCK):c.863+3A>G http://identifiers.org/clinvar/36262 ^@ GCK:c.864-159_864-149del http://identifiers.org/clinvar/36263 ^@ NM_000162.3(GCK):c.871A>T (p.Lys291Ter) http://identifiers.org/clinvar/36264 ^@ NM_000162.3(GCK):c.907C>T (p.Arg303Trp) http://identifiers.org/clinvar/36265 ^@ NM_000162.3(GCK):c.917T>C (p.Leu306Pro) http://identifiers.org/clinvar/36266 ^@ NM_000162.3(GCK):c.944T>A (p.Leu315His) http://identifiers.org/clinvar/36267 ^@ NM_000162.3(GCK):c.947T>A (p.Phe316Tyr) http://identifiers.org/clinvar/36268 ^@ NM_000162.3(GCK):c.952G>T (p.Gly318Trp) http://identifiers.org/clinvar/36269 ^@ NM_000162.3(GCK):c.954G>C (p.Gly318=) http://identifiers.org/clinvar/36270 ^@ NM_000162.3(GCK):c.971T>C (p.Leu324Pro) http://identifiers.org/clinvar/36271 ^@ NM_000162.3:c.46_679dup http://identifiers.org/clinvar/36273 ^@ NM_000823.3(GHRHR):c.169G>A (p.Ala57Thr) http://identifiers.org/clinvar/36274 ^@ NM_000823.3(GHRHR):c.363G>T (p.Glu121Asp) http://identifiers.org/clinvar/36275 ^@ NM_000823.3(GHRHR):c.366+13T>G http://identifiers.org/clinvar/36276 ^@ NM_000823.3(GHRHR):c.564C>T (p.His188=) http://identifiers.org/clinvar/36277 ^@ NM_004004.5(GJB2):c.*84T>C http://identifiers.org/clinvar/36278 ^@ NM_004004.5(GJB2):c.*111C>T http://identifiers.org/clinvar/36279 ^@ NM_004004.5(GJB2):c.79G>A (p.Val27Ile) http://identifiers.org/clinvar/36280 ^@ NM_000169.2(GLA):c.-10C>T http://identifiers.org/clinvar/36281 ^@ NM_000518.4(HBB):c.-106G>C http://identifiers.org/clinvar/36282 ^@ NM_000518.4(HBB):c.-133G>A http://identifiers.org/clinvar/36284 ^@ NM_000518.4(HBB):c.-136C>T http://identifiers.org/clinvar/36285 ^@ NM_000518.4(HBB):c.-137C>A http://identifiers.org/clinvar/36287 ^@ NM_000518.4(HBB):c.-137C>T http://identifiers.org/clinvar/36290 ^@ NM_000518.4(HBB):c.-15C>A http://identifiers.org/clinvar/36291 ^@ NM_000518.4(HBB):c.-31C>T http://identifiers.org/clinvar/36292 ^@ NM_000518.4(HBB):c.-50A>C http://identifiers.org/clinvar/36293 ^@ NM_000518.4(HBB):c.-51T>C http://identifiers.org/clinvar/36294 ^@ NM_000518.4(HBB):c.-75G>C http://identifiers.org/clinvar/36298 ^@ NM_000518.4(HBB):c.-92C>G http://identifiers.org/clinvar/36300 ^@ NM_000518.4(HBB):c.171C>T (p.Gly57=) http://identifiers.org/clinvar/36301 ^@ NM_000518.4(HBB):c.19_20delGAinsAT (p.Glu7Met) http://identifiers.org/clinvar/36302 ^@ NM_000518.4(HBB):c.201delA (p.Val68Cysfs) http://identifiers.org/clinvar/36303 ^@ NM_000518.4(HBB):c.203_204delTG (p.Val68Alafs) http://identifiers.org/clinvar/36305 ^@ NM_000518.4(HBB):c.246C>G (p.Leu82=) http://identifiers.org/clinvar/36306 ^@ NM_000518.4(HBB):c.251delG (p.Gly84Alafs) http://identifiers.org/clinvar/36308 ^@ NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) http://identifiers.org/clinvar/36309 ^@ NM_000518.4(HBB):c.287dupA (p.Leu97Alafs) http://identifiers.org/clinvar/36310 ^@ NM_000518.4(HBB):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/36311 ^@ NM_000518.4(HBB):c.309C>A (p.Asn103Lys) http://identifiers.org/clinvar/36312 ^@ NM_000518.4(HBB):c.316-146T>G http://identifiers.org/clinvar/36313 ^@ NM_000518.4(HBB):c.316-14T>G http://identifiers.org/clinvar/36314 ^@ NM_000518.4(HBB):c.316-150C>G http://identifiers.org/clinvar/36315 ^@ NM_000518.4(HBB):c.316-184T>C http://identifiers.org/clinvar/36316 ^@ NM_000518.4(HBB):c.316-185C>T http://identifiers.org/clinvar/36317 ^@ NM_000518.4(HBB):c.316-30A>C http://identifiers.org/clinvar/36318 ^@ NM_000518.4(HBB):c.316-37G>T http://identifiers.org/clinvar/36320 ^@ NM_000518.4(HBB):c.316-70C>G http://identifiers.org/clinvar/36321 ^@ NM_000518.4(HBB):c.316-96G>C http://identifiers.org/clinvar/36322 ^@ NM_000518.4(HBB):c.324C>T (p.Gly108=) http://identifiers.org/clinvar/36324 ^@ NM_000518.4(HBB):c.353A>G (p.His118Arg) http://identifiers.org/clinvar/36327 ^@ NM_000518.4(HBB):c.402G>C (p.Val134=) http://identifiers.org/clinvar/36329 ^@ NM_000518.4(HBB):c.432C>T (p.His144=) http://identifiers.org/clinvar/36330 ^@ NM_000518.4(HBB):c.*91G>A http://identifiers.org/clinvar/36331 ^@ NM_000518.4(HBB):c.*96T>C http://identifiers.org/clinvar/36332 ^@ NM_000518.4(HBB):c.*110T>C http://identifiers.org/clinvar/36334 ^@ NM_000518.4(HBB):c.92+2T>C http://identifiers.org/clinvar/36337 ^@ NM_000518.4(HBB):c.92G>A (p.Arg31Lys) http://identifiers.org/clinvar/36340 ^@ NM_000518.4(HBB):c.93-23T>C http://identifiers.org/clinvar/36341 ^@ NM_000518.4(HBB):c.93-3T>G http://identifiers.org/clinvar/36342 ^@ NM_000457.4(HNF4A):c.1163C>G (p.Pro388Arg) http://identifiers.org/clinvar/36343 ^@ NM_000457.4(HNF4A):c.1203C>T (p.Asn401=) http://identifiers.org/clinvar/36344 ^@ NM_000457.4(HNF4A):c.1253G>C (p.Cys418Ser) http://identifiers.org/clinvar/36345 ^@ NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) http://identifiers.org/clinvar/36346 ^@ NM_000457.4(HNF4A):c.*4G>A http://identifiers.org/clinvar/36347 ^@ NM_000457.4(HNF4A):c.150G>A (p.Ala50=) http://identifiers.org/clinvar/36348 ^@ NM_000457.4(HNF4A):c.347_348delGGinsC (p.Arg116Thrfs) http://identifiers.org/clinvar/36349 ^@ NM_000457.4(HNF4A):c.427A>G (p.Ser143Gly) http://identifiers.org/clinvar/36350 ^@ NM_000457.4(HNF4A):c.447G>A (p.Leu149=) http://identifiers.org/clinvar/36351 ^@ NM_000457.4(HNF4A):c.459T>C (p.Asn153=) http://identifiers.org/clinvar/36352 ^@ NM_000457.4(HNF4A):c.492+6G>A http://identifiers.org/clinvar/36353 ^@ NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) http://identifiers.org/clinvar/36354 ^@ NM_000457.4(HNF4A):c.619G>C (p.Ala207Pro) http://identifiers.org/clinvar/36355 ^@ NM_000457.4(HNF4A):c.641_648+10del18 http://identifiers.org/clinvar/36356 ^@ NM_000457.4(HNF4A):c.726_728delGCTinsTCAA (p.Leu243Glnfs) http://identifiers.org/clinvar/36357 ^@ NM_000457.4(HNF4A):c.735A>G (p.Leu245=) http://identifiers.org/clinvar/36358 ^@ NM_000457.4(HNF4A):c.762C>T (p.His254=) http://identifiers.org/clinvar/36359 ^@ NM_000457.4(HNF4A):c.810C>T (p.Asp270=) http://identifiers.org/clinvar/36360 ^@ NM_000457.4(HNF4A):c.834G>C (p.Glu278Asp) http://identifiers.org/clinvar/36361 ^@ NM_000457.4(HNF4A):c.892+30dupG http://identifiers.org/clinvar/36362 ^@ NM_000457.4(HNF4A):c.906G>A (p.Leu302=) http://identifiers.org/clinvar/36363 ^@ NM_000457.4(HNF4A):c.990G>T (p.Ser330=) http://identifiers.org/clinvar/36364 ^@ NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys) http://identifiers.org/clinvar/36365 ^@ NM_000457.4(HNF4A):c.997C>T (p.Arg333Cys) http://identifiers.org/clinvar/36369 ^@ NM_000196.3(HSD11B2):c.588G>A (p.Ala196=) http://identifiers.org/clinvar/36370 ^@ NM_000198.3(HSD3B2):c.707T>C (p.Leu236Ser) http://identifiers.org/clinvar/36371 ^@ NM_000416.2(IFNGR1):c.1004A>C (p.His335Pro) http://identifiers.org/clinvar/36372 ^@ NM_000416.2(IFNGR1):c.200+18A>G http://identifiers.org/clinvar/36373 ^@ NM_000416.2(IFNGR1):c.201-1G>T http://identifiers.org/clinvar/36374 ^@ NM_000416.2(IFNGR1):c.42G>A (p.Val14=) http://identifiers.org/clinvar/36375 ^@ NM_000416.2(IFNGR1):c.489C>T (p.Pro163=) http://identifiers.org/clinvar/36376 ^@ NM_005534.3(IFNGR2):c.173C>G (p.Thr58Arg) http://identifiers.org/clinvar/36377 ^@ NM_005534.3(IFNGR2):c.879+19delC http://identifiers.org/clinvar/36378 ^@ NM_003639.4(IKBKG):c.1056-18C>T http://identifiers.org/clinvar/36379 ^@ NM_003639.4(IKBKG):c.1056-6T>C http://identifiers.org/clinvar/36380 ^@ NM_003639.4(IKBKG):c.265_267delGAG (p.Glu89del) http://identifiers.org/clinvar/36381 ^@ NM_003639.4(IKBKG):c.399+19G>C http://identifiers.org/clinvar/36382 ^@ NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) http://identifiers.org/clinvar/36383 ^@ NM_003639.4(IKBKG):c.518+7C>T http://identifiers.org/clinvar/36384 ^@ NM_000206.2(IL2RG):c.270-1G>T http://identifiers.org/clinvar/36385 ^@ NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys) http://identifiers.org/clinvar/36386 ^@ NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) http://identifiers.org/clinvar/36387 ^@ NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser) http://identifiers.org/clinvar/36388 ^@ NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter) http://identifiers.org/clinvar/36389 ^@ NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter) http://identifiers.org/clinvar/36390 ^@ NM_002185.3(IL7R):c.214G>C (p.Glu72Gln) http://identifiers.org/clinvar/36391 ^@ NM_002185.3(IL7R):c.271_280dupATATATTTCA (p.Ile94Asnfs) http://identifiers.org/clinvar/36392 ^@ NM_002185.3(IL7R):c.353G>A (p.Cys118Tyr) http://identifiers.org/clinvar/36393 ^@ NM_002185.3(IL7R):c.539A>C (p.His180Pro) http://identifiers.org/clinvar/36394 ^@ NM_002185.3(IL7R):c.616_617delCGinsTA (p.Arg206Ter) http://identifiers.org/clinvar/36395 ^@ NM_002185.3(IL7R):c.617G>A (p.Arg206Gln) http://identifiers.org/clinvar/36396 ^@ NM_002185.3(IL7R):c.644G>T (p.Gly215Val) http://identifiers.org/clinvar/36397 ^@ NM_002185.3(IL7R):c.83-18A>G http://identifiers.org/clinvar/36398 ^@ NM_002185.3(IL7R):c.882A>C (p.Leu294Phe) http://identifiers.org/clinvar/36399 ^@ NM_000207.2(INS):c.-9C>T http://identifiers.org/clinvar/36400 ^@ NM_000207.2(INS):c.188-16C>T http://identifiers.org/clinvar/36401 ^@ NM_000207.2(INS):c.71C>T (p.Ala24Val) http://identifiers.org/clinvar/36402 ^@ NM_000209.3(PDX1):c.-18C>T http://identifiers.org/clinvar/36403 ^@ NM_000209.3(PDX1):c.-29_-23dupCTCCCGG http://identifiers.org/clinvar/36404 ^@ NM_000209.3(PDX1):c.162G>A (p.Leu54=) http://identifiers.org/clinvar/36405 ^@ NM_000209.3(PDX1):c.216C>T (p.Pro72=) http://identifiers.org/clinvar/36406 ^@ NM_000209.3(PDX1):c.318G>T (p.Pro106=) http://identifiers.org/clinvar/36407 ^@ NM_000209.3(PDX1):c.442C>G (p.Arg148Gly) http://identifiers.org/clinvar/36408 ^@ NM_000209.3(PDX1):c.543C>T (p.Val181=) http://identifiers.org/clinvar/36409 ^@ NM_000209.3(PDX1):c.571A>C (p.Lys191Gln) http://identifiers.org/clinvar/36411 ^@ NM_000209.3(PDX1):c.725C>T (p.Pro242Leu) http://identifiers.org/clinvar/36412 ^@ NM_000209.3(PDX1):c.726_728dupGCC (p.Pro244_Gly245insPro) http://identifiers.org/clinvar/36413 ^@ NM_000209.3(PDX1):c.773A>G (p.Glu258Gly) http://identifiers.org/clinvar/36414 ^@ NM_000209.3(PDX1):c.97C>A (p.Pro33Thr) http://identifiers.org/clinvar/36415 ^@ NM_000215.3(JAK3):c.1744C>T (p.Arg582Trp) http://identifiers.org/clinvar/36416 ^@ NM_000215.3(JAK3):c.1767C>T (p.Gly589=) http://identifiers.org/clinvar/36417 ^@ NM_000215.3(JAK3):c.1890G>A (p.Gln630=) http://identifiers.org/clinvar/36418 ^@ NM_000215.3(JAK3):c.2259C>T (p.Ala753=) http://identifiers.org/clinvar/36419 ^@ NM_000215.3(JAK3):c.2625C>T (p.Leu875=) http://identifiers.org/clinvar/36420 ^@ NM_000215.3(JAK3):c.308+16delC http://identifiers.org/clinvar/36421 ^@ NM_000215.3(JAK3):c.3096+18A>G http://identifiers.org/clinvar/36422 ^@ NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) http://identifiers.org/clinvar/36423 ^@ NM_000215.3(JAK3):c.678_679delCT (p.Cys227Profs) http://identifiers.org/clinvar/36424 ^@ NM_002230.2(JUP):c.1774-13C>T http://identifiers.org/clinvar/36425 ^@ NM_002230.2(JUP):c.867C>T (p.Thr289=) http://identifiers.org/clinvar/36426 ^@ NM_002230.2(JUP):c.909+6C>T http://identifiers.org/clinvar/36427 ^@ NM_000219.5(KCNE1):c.30G>T (p.Thr10=) http://identifiers.org/clinvar/36428 ^@ NM_000238.3(KCNH2):c.1539C>T (p.Phe513=) http://identifiers.org/clinvar/36429 ^@ NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) http://identifiers.org/clinvar/36430 ^@ NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) http://identifiers.org/clinvar/36431 ^@ NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln) http://identifiers.org/clinvar/36432 ^@ NM_000525.3(KCNJ11):c.54A>G (p.Ala18=) http://identifiers.org/clinvar/36433 ^@ NM_000525.3(KCNJ11):c.5T>C (p.Leu2Pro) http://identifiers.org/clinvar/36434 ^@ NM_000891.2(KCNJ2):c.660C>T (p.Ser220=) http://identifiers.org/clinvar/36435 ^@ NM_000218.2(KCNQ1):c.1514+18C>T http://identifiers.org/clinvar/36436 ^@ NM_000218.2(KCNQ1):c.1590+14T>C http://identifiers.org/clinvar/36437 ^@ NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) http://identifiers.org/clinvar/36438 ^@ NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) http://identifiers.org/clinvar/36439 ^@ NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) http://identifiers.org/clinvar/36440 ^@ NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC http://identifiers.org/clinvar/36441 ^@ NM_002294.2(LAMP2):c.463delA (p.Ser155Valfs) http://identifiers.org/clinvar/36442 ^@ NM_007078.2(LDB3):c.1041C>A (p.Ser347=) http://identifiers.org/clinvar/36443 ^@ NM_007078.2(LDB3):c.1074C>T (p.Ala358=) http://identifiers.org/clinvar/36444 ^@ NM_007078.2(LDB3):c.1422G>A (p.Ser474=) http://identifiers.org/clinvar/36445 ^@ NM_007078.2(LDB3):c.1903G>A (p.Val635Ile) http://identifiers.org/clinvar/36446 ^@ NM_007078.2(LDB3):c.2092G>A (p.Ala698Thr) http://identifiers.org/clinvar/36447 ^@ NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/36448 ^@ NM_007078.2(LDB3):c.690-4A>G http://identifiers.org/clinvar/36449 ^@ NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) http://identifiers.org/clinvar/36450 ^@ NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) http://identifiers.org/clinvar/36451 ^@ NM_000527.4(LDLR):c.1061-8T>C http://identifiers.org/clinvar/36452 ^@ NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) http://identifiers.org/clinvar/36453 ^@ NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) http://identifiers.org/clinvar/36454 ^@ NM_000527.4(LDLR):c.1291G>C (p.Ala431Pro) http://identifiers.org/clinvar/36455 ^@ NM_000527.4(LDLR):c.1358+2T>A http://identifiers.org/clinvar/36456 ^@ NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) http://identifiers.org/clinvar/36457 ^@ NM_000527.4(LDLR):c.1706-21_1706-19delCTT http://identifiers.org/clinvar/36458 ^@ NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) http://identifiers.org/clinvar/36459 ^@ NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) http://identifiers.org/clinvar/36460 ^@ NM_000527.4(LDLR):c.2140+5G>A http://identifiers.org/clinvar/36461 ^@ NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) http://identifiers.org/clinvar/36462 ^@ NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) http://identifiers.org/clinvar/36463 ^@ NM_000527.4(LDLR):c.362G>A (p.Cys121Tyr) http://identifiers.org/clinvar/36464 ^@ NM_000527.4(LDLR):c.507C>T (p.Asn169=) http://identifiers.org/clinvar/36465 ^@ NM_002303.5(LEPR):c.2880C>G (p.Asn960Lys) http://identifiers.org/clinvar/36466 ^@ NM_002303.5(LEPR):c.3417A>G (p.Ala1139=) http://identifiers.org/clinvar/36467 ^@ NM_002303.5(LEPR):c.3423C>T (p.Tyr1141=) http://identifiers.org/clinvar/36468 ^@ NM_000233.3(LHCGR):c.1732G>T (p.Asp578Tyr) http://identifiers.org/clinvar/36469 ^@ NM_000233.3(LHCGR):c.458+3A>G http://identifiers.org/clinvar/36470 ^@ NM_000233.3(LHCGR):c.605+52delT http://identifiers.org/clinvar/36472 ^@ NM_013975.3(LIG3):c.1440T>C (p.Pro480=) http://identifiers.org/clinvar/36473 ^@ NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) http://identifiers.org/clinvar/36474 ^@ NM_170707.3(LMNA):c.1157+16G>A http://identifiers.org/clinvar/36475 ^@ NM_170707.3(LMNA):c.1381-2A>G http://identifiers.org/clinvar/36476 ^@ NM_170707.3(LMNA):c.1412G>A (p.Arg471His) http://identifiers.org/clinvar/36477 ^@ NM_170707.3(LMNA):c.1761G>A (p.Leu587=) http://identifiers.org/clinvar/36478 ^@ NM_170707.3(LMNA):c.357-20C>T http://identifiers.org/clinvar/36479 ^@ NM_005572.3(LMNA):c.51C>T (p.Ser17=) http://identifiers.org/clinvar/36480 ^@ NM_170707.3(LMNA):c.810+13G>T http://identifiers.org/clinvar/36481 ^@ NM_002335.3(LRP5):c.4000+9C>T http://identifiers.org/clinvar/36482 ^@ NM_002335.3(LRP5):c.4635C>T (p.Thr1545=) http://identifiers.org/clinvar/36483 ^@ NM_005912.2(MC4R):c.538T>C (p.Ser180Pro) http://identifiers.org/clinvar/36484 ^@ NM_005912.2(MC4R):c.606C>A (p.Phe202Leu) http://identifiers.org/clinvar/36485 ^@ NM_005912.2(MC4R):c.677T>C (p.Ile226Thr) http://identifiers.org/clinvar/36486 ^@ NM_005912.2(MC4R):c.806T>A (p.Ile269Asn) http://identifiers.org/clinvar/36487 ^@ NM_005912.2(MC4R):c.835_836dupTG (p.Phe280Alafs) http://identifiers.org/clinvar/36488 ^@ NM_005912.2(MC4R):c.896C>A (p.Pro299His) http://identifiers.org/clinvar/36489 ^@ NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) http://identifiers.org/clinvar/36490 ^@ NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) http://identifiers.org/clinvar/36491 ^@ NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) http://identifiers.org/clinvar/36492 ^@ NM_004992.3(MECP2):c.1441G>A (p.Val481Met) http://identifiers.org/clinvar/36493 ^@ NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) http://identifiers.org/clinvar/36494 ^@ NM_004992.3(MECP2):c.898G>A (p.Val300Ile) http://identifiers.org/clinvar/36495 ^@ NM_004992.3(MECP2):c.909C>G (p.Ile303Met) http://identifiers.org/clinvar/36496 ^@ NM_004992.3(MECP2):c.932C>T (p.Thr311Met) http://identifiers.org/clinvar/36497 ^@ NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) http://identifiers.org/clinvar/36498 ^@ NM_000243.2(MEFV):c.1260+10C>T http://identifiers.org/clinvar/36499 ^@ NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) http://identifiers.org/clinvar/36500 ^@ NM_000243.2(MEFV):c.1422G>A (p.Glu474=) http://identifiers.org/clinvar/36501 ^@ NM_000243.2(MEFV):c.1503C>T (p.Arg501=) http://identifiers.org/clinvar/36502 ^@ NM_000243.2(MEFV):c.1518C>T (p.Ile506=) http://identifiers.org/clinvar/36503 ^@ NM_000243.2(MEFV):c.1530T>C (p.Asp510=) http://identifiers.org/clinvar/36504 ^@ NM_000243.2(MEFV):c.1759+8C>T http://identifiers.org/clinvar/36505 ^@ NM_000243.2(MEFV):c.1764A= (p.Pro588=) http://identifiers.org/clinvar/36506 ^@ NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) http://identifiers.org/clinvar/36507 ^@ NM_000243.2(MEFV):c.2040G>C (p.Met680Ile) http://identifiers.org/clinvar/36508 ^@ NM_000243.2(MEFV):c.2118G>A (p.Pro706=) http://identifiers.org/clinvar/36509 ^@ NM_000243.2(MEFV):c.306T>C (p.Asp102=) http://identifiers.org/clinvar/36510 ^@ NM_000243.2(MEFV):c.414A>G (p.Gly138=) http://identifiers.org/clinvar/36511 ^@ NM_000243.2(MEFV):c.495C>A (p.Ala165=) http://identifiers.org/clinvar/36512 ^@ NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) http://identifiers.org/clinvar/36513 ^@ NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) http://identifiers.org/clinvar/36514 ^@ NM_000243.2(MEFV):c.941G>A (p.Arg314His) http://identifiers.org/clinvar/36515 ^@ NM_000243.2(MEFV):c.942C>T (p.Arg314=) http://identifiers.org/clinvar/36516 ^@ NM_000243.2(MEFV):c.97G>T (p.Val33Leu) http://identifiers.org/clinvar/36517 ^@ NM_000244.3(MEN1):c.-20G>A http://identifiers.org/clinvar/36518 ^@ NM_000244.3(MEN1):c.1028dupT (p.Gln344Alafs) http://identifiers.org/clinvar/36519 ^@ NM_130799.2(MEN1):c.1049+9C>T http://identifiers.org/clinvar/36520 ^@ NM_000244.3(MEN1):c.1078delC (p.Arg360Glyfs) http://identifiers.org/clinvar/36521 ^@ NM_000244.3(MEN1):c.1189dupG (p.Glu397Glyfs) http://identifiers.org/clinvar/36522 ^@ NM_000244.3(MEN1):c.119_124delTGCTGG (p.Val40_Leu41del) http://identifiers.org/clinvar/36523 ^@ NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) http://identifiers.org/clinvar/36524 ^@ NM_130799.2(MEN1):c.1296G>A (p.Leu432=) http://identifiers.org/clinvar/36525 ^@ NM_000244.3(MEN1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/36526 ^@ NM_000244.3(MEN1):c.211_212delCC (p.Pro71Alafs) http://identifiers.org/clinvar/36527 ^@ NM_000244.3(MEN1):c.249G>A (p.Leu83=) http://identifiers.org/clinvar/36528 ^@ NM_000244.3(MEN1):c.252dupT (p.Ile85Tyrfs) http://identifiers.org/clinvar/36529 ^@ NM_000244.3(MEN1):c.417C>G (p.His139Gln) http://identifiers.org/clinvar/36530 ^@ NM_000244.3(MEN1):c.480_481insAATT (p.Gly161Asnfs) http://identifiers.org/clinvar/36531 ^@ NM_130799.2(MEN1):c.492C>T (p.Ala164=) http://identifiers.org/clinvar/36532 ^@ NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) http://identifiers.org/clinvar/36533 ^@ NM_000244.3(MEN1):c.659_667delTGGCTGAGCinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) http://identifiers.org/clinvar/36534 ^@ NM_000244.3(MEN1):c.664_669+2delGAGCGGGT http://identifiers.org/clinvar/36535 ^@ NM_000244.3(MEN1):c.669+18C>T http://identifiers.org/clinvar/36536 ^@ NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) http://identifiers.org/clinvar/36537 ^@ NM_000244.3(MEN1):c.951C>G (p.Tyr317Ter) http://identifiers.org/clinvar/36538 ^@ NM_000244.3(MEN1):c.970dupT (p.Tyr324Leufs) http://identifiers.org/clinvar/36539 ^@ NM_000249.3(MLH1):c.1039-8T>A http://identifiers.org/clinvar/36540 ^@ NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) http://identifiers.org/clinvar/36541 ^@ NM_000249.3(MLH1):c.1558+14G>A http://identifiers.org/clinvar/36542 ^@ NM_000249.3(MLH1):c.1668-19A>G http://identifiers.org/clinvar/36543 ^@ NM_000249.3(MLH1):c.1732-19T>A http://identifiers.org/clinvar/36544 ^@ NM_000249.3(MLH1):c.1896+17T>C http://identifiers.org/clinvar/36545 ^@ NM_000249.3(MLH1):c.1937A>G (p.Tyr646Cys) http://identifiers.org/clinvar/36546 ^@ NM_000249.3(MLH1):c.1959G>T (p.Leu653=) http://identifiers.org/clinvar/36547 ^@ NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) http://identifiers.org/clinvar/36548 ^@ NM_000249.3(MLH1):c.2213G>A (p.Gly738Glu) http://identifiers.org/clinvar/36549 ^@ NM_000249.3(MLH1):c.*35_*37delCTT http://identifiers.org/clinvar/36550 ^@ NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) http://identifiers.org/clinvar/36551 ^@ NM_000249.3(MLH1):c.381-41A>G http://identifiers.org/clinvar/36552 ^@ NM_000249.3(MLH1):c.453+25A>G http://identifiers.org/clinvar/36553 ^@ NM_000249.3(MLH1):c.454-1G>A http://identifiers.org/clinvar/36554 ^@ NM_000249.3(MLH1):c.545+20A>T http://identifiers.org/clinvar/36555 ^@ NM_000249.3(MLH1):c.588+11G>C http://identifiers.org/clinvar/36556 ^@ NM_000249.3(MLH1):c.589-15C>T http://identifiers.org/clinvar/36557 ^@ NM_000249.3(MLH1):c.655A>G (p.Ile219Val) http://identifiers.org/clinvar/36558 ^@ NM_000249.3(MLH1):c.702G>A (p.Glu234=) http://identifiers.org/clinvar/36559 ^@ NM_000249.3(MLH1):c.80G>C (p.Arg27Pro) http://identifiers.org/clinvar/36560 ^@ NM_000249.3(MLH1):c.94A>G (p.Ile32Val) http://identifiers.org/clinvar/36561 ^@ NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter) http://identifiers.org/clinvar/36562 ^@ NM_000251.2(MSH2):c.1077-10T>C http://identifiers.org/clinvar/36563 ^@ NM_000251.2(MSH2):c.1077-69_1143del136 http://identifiers.org/clinvar/36564 ^@ NM_000251.2(MSH2):c.1077-80G>A http://identifiers.org/clinvar/36565 ^@ NM_000251.2(MSH2):c.1387-8G>T http://identifiers.org/clinvar/36566 ^@ NM_000251.2(MSH2):c.1511-9A>T http://identifiers.org/clinvar/36567 ^@ NM_000251.2(MSH2):c.1661+12G>A http://identifiers.org/clinvar/36568 ^@ NM_000251.2(MSH2):c.1666T>C (p.Leu556=) http://identifiers.org/clinvar/36569 ^@ NM_000251.2(MSH2):c.1705_1706delGA (p.Glu569Ilefs) http://identifiers.org/clinvar/36570 ^@ NM_000251.2(MSH2):c.1737A>G (p.Lys579=) http://identifiers.org/clinvar/36571 ^@ NM_000251.2(MSH2):c.2006-6T>C http://identifiers.org/clinvar/36572 ^@ NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) http://identifiers.org/clinvar/36573 ^@ NM_000251.2(MSH2):c.211+9C>G http://identifiers.org/clinvar/36575 ^@ NM_000251.2(MSH2):c.304G>A (p.Val102Ile) http://identifiers.org/clinvar/36576 ^@ NM_000251.2(MSH2):c.339G>A (p.Lys113=) http://identifiers.org/clinvar/36577 ^@ NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) http://identifiers.org/clinvar/36578 ^@ NM_000251.2(MSH2):c.421A>G (p.Met141Val) http://identifiers.org/clinvar/36579 ^@ NM_000251.2(MSH2):c.860dupG (p.Gln288Thrfs) http://identifiers.org/clinvar/36580 ^@ NM_000251.2(MSH2):c.942+3A>T http://identifiers.org/clinvar/36581 ^@ NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) http://identifiers.org/clinvar/36582 ^@ NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) http://identifiers.org/clinvar/36583 ^@ NM_000179.2(MSH6):c.1345C>T (p.Leu449=) http://identifiers.org/clinvar/36584 ^@ NM_000179.2(MSH6):c.186C>A (p.Arg62=) http://identifiers.org/clinvar/36585 ^@ NM_000179.2(MSH6):c.2253T>C (p.Asn751=) http://identifiers.org/clinvar/36586 ^@ NM_000179.2(MSH6):c.260+10T>G http://identifiers.org/clinvar/36587 ^@ NM_000179.2(MSH6):c.276A>G (p.Pro92=) http://identifiers.org/clinvar/36589 ^@ NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) http://identifiers.org/clinvar/36590 ^@ NM_000179.2(MSH6):c.3647-35_3647-34insTTTGTTCTAATTCCTTT http://identifiers.org/clinvar/36592 ^@ MHS6:c.3647-65_3647-61del http://identifiers.org/clinvar/36593 ^@ NM_000179.2(MSH6):c.3699_3702delAGAA (p.Lys1233Asnfs) http://identifiers.org/clinvar/36594 ^@ NM_000179.2(MSH6):c.3802-40C>G http://identifiers.org/clinvar/36595 ^@ NM_000179.2(MSH6):c.3852G>T (p.Thr1284=) http://identifiers.org/clinvar/36596 ^@ NM_000179.2(MSH6):c.38A>C (p.Lys13Thr) http://identifiers.org/clinvar/36597 ^@ NM_000179.2(MSH6):c.540T>C (p.Asp180=) http://identifiers.org/clinvar/36598 ^@ NM_000179.2(MSH6):c.553A>G (p.Lys185Glu) http://identifiers.org/clinvar/36599 ^@ NM_000179.2(MSH6):c.642C>T (p.Tyr214=) http://identifiers.org/clinvar/36600 ^@ NM_000179.2(MSH6):c.975A>G (p.Gln325=) http://identifiers.org/clinvar/36601 ^@ NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) http://identifiers.org/clinvar/36602 ^@ NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) http://identifiers.org/clinvar/36603 ^@ NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) http://identifiers.org/clinvar/36604 ^@ NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) http://identifiers.org/clinvar/36605 ^@ NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) http://identifiers.org/clinvar/36606 ^@ NM_000256.3(MYBPC3):c.2537T>A (p.Val846Asp) http://identifiers.org/clinvar/36607 ^@ NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) http://identifiers.org/clinvar/36608 ^@ NM_000256.3(MYBPC3):c.2905+5G>A http://identifiers.org/clinvar/36609 ^@ NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) http://identifiers.org/clinvar/36610 ^@ NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) http://identifiers.org/clinvar/36611 ^@ NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) http://identifiers.org/clinvar/36613 ^@ NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) http://identifiers.org/clinvar/36614 ^@ NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) http://identifiers.org/clinvar/36615 ^@ NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) http://identifiers.org/clinvar/36616 ^@ NM_001040113.1(MYH11):c.2229C>T (p.Ile743=) http://identifiers.org/clinvar/36617 ^@ NM_002474.2(MYH11):c.2412-9C>A http://identifiers.org/clinvar/36618 ^@ NM_001040114.1(MYH11):c.3254T>C (p.Ile1085Thr) http://identifiers.org/clinvar/36619 ^@ NM_002474.2(MYH11):c.3652-6C>T http://identifiers.org/clinvar/36620 ^@ NM_002474.2(MYH11):c.3816G>A (p.Glu1272=) http://identifiers.org/clinvar/36621 ^@ NM_001040113.1(MYH11):c.4791G>A (p.Lys1597=) http://identifiers.org/clinvar/36622 ^@ NM_001040113.1(MYH11):c.4882A>C (p.Lys1628Gln) http://identifiers.org/clinvar/36623 ^@ NM_001040114.1(MYH11):c.4975-16delC http://identifiers.org/clinvar/36624 ^@ MYH11:c.503-14_503-12del http://identifiers.org/clinvar/36625 ^@ NM_001040113.1(MYH11):c.5193-14C>T http://identifiers.org/clinvar/36626 ^@ NM_001040114.1(MYH11):c.5316+13T>C http://identifiers.org/clinvar/36627 ^@ NM_002471.3(MYH6):c.1753G>A (p.Gly585Ser) http://identifiers.org/clinvar/36628 ^@ NM_002471.3(MYH6):c.3979-8delC http://identifiers.org/clinvar/36629 ^@ NM_002471.3(MYH6):c.4401T>G (p.Ser1467=) http://identifiers.org/clinvar/36630 ^@ NM_002471.3(MYH6):c.4651-12A>C http://identifiers.org/clinvar/36631 ^@ NM_002471.3(MYH6):c.4959+13G>A http://identifiers.org/clinvar/36632 ^@ NM_002471.3(MYH6):c.4960-17A>T http://identifiers.org/clinvar/36633 ^@ NM_002471.3(MYH6):c.5508A>G (p.Ala1836=) http://identifiers.org/clinvar/36634 ^@ NM_002471.3(MYH6):c.999C>T (p.Thr333=) http://identifiers.org/clinvar/36635 ^@ NM_000257.3(MYH7):c.1408-42delC http://identifiers.org/clinvar/6687 ^@ NM_001015880.1(PAPSS2):c.143C>G (p.Thr48Arg) http://identifiers.org/clinvar/6688 ^@ NM_001015880.1(PAPSS2):c.1000C>T (p.Arg334Ter) http://identifiers.org/clinvar/6689 ^@ NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) http://identifiers.org/clinvar/6690 ^@ CUBN, IVS6, C-G http://identifiers.org/clinvar/6691 ^@ NM_005450.4(NOG):c.665A>G (p.Tyr222Cys) http://identifiers.org/clinvar/6692 ^@ NM_005450.4(NOG):c.664T>G (p.Tyr222Asp) http://identifiers.org/clinvar/6693 ^@ NM_005450.4(NOG):c.649T>G (p.Trp217Gly) http://identifiers.org/clinvar/6694 ^@ NM_005450.4(NOG):c.668C>T (p.Pro223Leu) http://identifiers.org/clinvar/6695 ^@ NM_005450.4(NOG):c.565G>T (p.Gly189Cys) http://identifiers.org/clinvar/6696 ^@ NM_005450.4(NOG):c.611G>T (p.Arg204Leu) http://identifiers.org/clinvar/6697 ^@ NM_005450.4(NOG):c.104C>G (p.Pro35Arg) http://identifiers.org/clinvar/6699 ^@ NM_005450.4(NOG):c.551G>A (p.Cys184Tyr) http://identifiers.org/clinvar/6700 ^@ NM_005450.4(NOG):c.386T>A (p.Leu129Ter) http://identifiers.org/clinvar/6701 ^@ NOG, 1-BP DEL http://identifiers.org/clinvar/6702 ^@ NM_005450.4(NOG):c.499C>G (p.Arg167Gly) http://identifiers.org/clinvar/6703 ^@ NM_005450.4(NOG):c.103C>T (p.Pro35Ser) http://identifiers.org/clinvar/6704 ^@ NM_005450.4(NOG):c.328C>T (p.Gln110Ter) http://identifiers.org/clinvar/6705 ^@ NOG, 1-BP INS, 252C http://identifiers.org/clinvar/6706 ^@ NOG, TRP205TER http://identifiers.org/clinvar/6707 ^@ NM_005450.4(NOG):c.615G>C (p.Trp205Cys) http://identifiers.org/clinvar/6708 ^@ NM_005450.4(NOG):c.103C>G (p.Pro35Ala) http://identifiers.org/clinvar/6709 ^@ NM_004550.4(NDUFS2):c.683G>A (p.Arg228Gln) http://identifiers.org/clinvar/6710 ^@ NM_004550.4(NDUFS2):c.686C>A (p.Pro229Gln) http://identifiers.org/clinvar/6711 ^@ NM_004550.4(NDUFS2):c.1237T>C (p.Ser413Pro) http://identifiers.org/clinvar/6712 ^@ NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) http://identifiers.org/clinvar/6713 ^@ FANCG, IVS13, G-C, -1 http://identifiers.org/clinvar/6714 ^@ NM_004629.1(FANCG):c.307+1G>C http://identifiers.org/clinvar/6715 ^@ NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) http://identifiers.org/clinvar/6716 ^@ NM_004629.1(FANCG):c.925-2A>G http://identifiers.org/clinvar/6717 ^@ NM_004629.1(FANCG):c.1480+1G>C http://identifiers.org/clinvar/6718 ^@ NM_004629.1(FANCG):c.1794_1803delCTGGATCCGT (p.Trp599Profs) http://identifiers.org/clinvar/6719 ^@ NM_004629.1(FANCG):c.637_643delTACCGCC (p.Tyr213Lysfs) http://identifiers.org/clinvar/6720 ^@ NM_001701.3(BAAT):c.226A>G (p.Met76Val) http://identifiers.org/clinvar/6721 ^@ CITED2, 27-BP DEL, NT508 http://identifiers.org/clinvar/6722 ^@ CITED2, 27-BP INS, NT534 http://identifiers.org/clinvar/6723 ^@ CITED2, 6-BP DEL, NT592 http://identifiers.org/clinvar/6724 ^@ NM_001441.2(FAAH):c.385C>A (p.Pro129Thr) http://identifiers.org/clinvar/6725 ^@ SMAD7, IVS3, T/C http://identifiers.org/clinvar/6726 ^@ NM_003165.3(STXBP1):c.1631G>A (p.Gly544Asp) http://identifiers.org/clinvar/6727 ^@ NM_003165.3(STXBP1):c.539G>A (p.Cys180Tyr) http://identifiers.org/clinvar/6728 ^@ NM_003165.3(STXBP1):c.1328T>G (p.Met443Arg) http://identifiers.org/clinvar/6729 ^@ NM_003165.3(STXBP1):c.251T>A (p.Val84Asp) http://identifiers.org/clinvar/6730 ^@ NM_003165.3(STXBP1):c.1162C>T (p.Arg388Ter) http://identifiers.org/clinvar/6731 ^@ NM_003165.3(STXBP1):c.169+1G>A http://identifiers.org/clinvar/6732 ^@ NM_001170.1(AQP7):c.791G>T (p.Gly264Val) http://identifiers.org/clinvar/6733 ^@ NM_006892.3(DNMT3B):c.2450A>G (p.Asp817Gly) http://identifiers.org/clinvar/6734 ^@ NM_006892.3(DNMT3B):c.2452G>A (p.Val818Met) http://identifiers.org/clinvar/6736 ^@ NM_006892.3(DNMT3B):c.1987G>A (p.Gly663Ser) http://identifiers.org/clinvar/6737 ^@ DNMT3B, LEU656THR http://identifiers.org/clinvar/6738 ^@ DNMT3B, EX21-22DEL http://identifiers.org/clinvar/6739 ^@ DNMT3B, 1-BP INS, CODON 53 http://identifiers.org/clinvar/6740 ^@ NM_006892.3(DNMT3B):c.1807G>A (p.Ala603Thr) http://identifiers.org/clinvar/6741 ^@ NM_175850.2(DNMT3B):c.2397-11G>A http://identifiers.org/clinvar/6742 ^@ NM_006892.3(DNMT3B):c.2237T>G (p.Val746Gly) http://identifiers.org/clinvar/6743 ^@ NM_006892.3(DNMT3B):c.88C>T (p.Gln30Ter) http://identifiers.org/clinvar/6744 ^@ NM_006892.3(DNMT3B):c.2519G>A (p.Arg840Gln) http://identifiers.org/clinvar/6745 ^@ NM_006892.3(DNMT3B):c.808T>C (p.Ser270Pro) http://identifiers.org/clinvar/6746 ^@ MAPK10, EX10-14DEL http://identifiers.org/clinvar/6747 ^@ NM_001492.5(GDF1):c.681C>A (p.Cys227Ter) http://identifiers.org/clinvar/6748 ^@ NM_001492.5(GDF1):c.800G>A (p.Cys267Tyr) http://identifiers.org/clinvar/6749 ^@ NM_001492.5(GDF1):c.485G>A (p.Gly162Asp) http://identifiers.org/clinvar/6750 ^@ OCLN, 22-BP DEL, NT171 http://identifiers.org/clinvar/6751 ^@ OCLN, 1-BP DUP, 512A http://identifiers.org/clinvar/6752 ^@ NM_002538.3(OCLN):c.656T>C (p.Phe219Ser) http://identifiers.org/clinvar/6753 ^@ OCLN, IVS5DS, G-A, +5 http://identifiers.org/clinvar/6754 ^@ NM_004572.3(PKP2):c.235C>T (p.Arg79Ter) http://identifiers.org/clinvar/6755 ^@ NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter) http://identifiers.org/clinvar/6756 ^@ NM_004572.3(PKP2):c.2146-1G>C http://identifiers.org/clinvar/6757 ^@ NM_004572.3(PKP2):c.2489+1G>A http://identifiers.org/clinvar/6758 ^@ NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) http://identifiers.org/clinvar/6759 ^@ NM_004336.4(BUB1):c.3069delT (p.His1024Ilefs) http://identifiers.org/clinvar/6760 ^@ NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) http://identifiers.org/clinvar/6761 ^@ NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) http://identifiers.org/clinvar/6762 ^@ NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) http://identifiers.org/clinvar/6763 ^@ BUB1B, 4-BP INS, 2211GTTA http://identifiers.org/clinvar/6764 ^@ NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) http://identifiers.org/clinvar/6765 ^@ NM_001211.5(BUB1B):c.3035T>C (p.Leu1012Pro) http://identifiers.org/clinvar/6766 ^@ NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) http://identifiers.org/clinvar/6767 ^@ BUB1B, IVS10, G-T, -1 http://identifiers.org/clinvar/6768 ^@ BUB1B, 1-BP DEL, 1833T http://identifiers.org/clinvar/6769 ^@ BUB1B, IVS10AS, A-G, -5 http://identifiers.org/clinvar/6770 ^@ NM_002617.3(PEX10):c.600+1G>A http://identifiers.org/clinvar/6771 ^@ NM_153818.1(PEX10):c.930C>G (p.His310Gln) http://identifiers.org/clinvar/6772 ^@ NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) http://identifiers.org/clinvar/6773 ^@ PEX10, 2-BP DEL, 814CT http://identifiers.org/clinvar/6774 ^@ NM_153818.1(PEX10):c.764dupA (p.Leu256Alafs) http://identifiers.org/clinvar/6775 ^@ PEX10, DEL/INS/FS, NT13 http://identifiers.org/clinvar/6776 ^@ NM_001360.2(DHCR7):c.832-1G>C http://identifiers.org/clinvar/6777 ^@ DHCR7, 96-BP DEL http://identifiers.org/clinvar/6778 ^@ DHCR7, 1-BP INS, 505C http://identifiers.org/clinvar/6779 ^@ DHCR7, 1-BP INS, 586T http://identifiers.org/clinvar/6780 ^@ NM_001360.2(DHCR7):c.356A>T (p.His119Leu) http://identifiers.org/clinvar/6781 ^@ NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) http://identifiers.org/clinvar/6782 ^@ NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys) http://identifiers.org/clinvar/6783 ^@ NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) http://identifiers.org/clinvar/6784 ^@ NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter) http://identifiers.org/clinvar/6785 ^@ NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) http://identifiers.org/clinvar/6786 ^@ DHCR7, TRP37TER http://identifiers.org/clinvar/6787 ^@ NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) http://identifiers.org/clinvar/6788 ^@ NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) http://identifiers.org/clinvar/6789 ^@ NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) http://identifiers.org/clinvar/6790 ^@ NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) http://identifiers.org/clinvar/6791 ^@ NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/6792 ^@ NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) http://identifiers.org/clinvar/6793 ^@ DHCR7, PHE284LEU http://identifiers.org/clinvar/6794 ^@ NM_001360.2(DHCR7):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/6795 ^@ NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) http://identifiers.org/clinvar/6796 ^@ NM_002791.2(PSMA6):c.-8C>G http://identifiers.org/clinvar/6797 ^@ NM_032119.3(ADGRV1):c.8495C>A (p.Ser2832Ter) http://identifiers.org/clinvar/6798 ^@ NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter) http://identifiers.org/clinvar/6799 ^@ NM_032119.3(ADGRV1):c.8713_8716dupAACA (p.Ile2906Lysfs) http://identifiers.org/clinvar/6800 ^@ NM_032119.3(ADGRV1):c.8790delC (p.Met2931Trpfs) http://identifiers.org/clinvar/6801 ^@ NM_032119.3(ADGRV1):c.18732_18750del19 (p.Tyr6244Terfs) http://identifiers.org/clinvar/6802 ^@ NM_032119.3(ADGRV1):c.18131A>G (p.Tyr6044Cys) http://identifiers.org/clinvar/6803 ^@ NG_007083.1:g.371658_507674del http://identifiers.org/clinvar/6804 ^@ NM_032119.3(ADGRV1):c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs) http://identifiers.org/clinvar/6805 ^@ NM_032119.3(ADGRV1):c.5357_5358delAA (p.Lys1786Ilefs) http://identifiers.org/clinvar/6806 ^@ NM_004984.2(KIF5A):c.767A>G (p.Asn256Ser) http://identifiers.org/clinvar/6807 ^@ NM_004984.2(KIF5A):c.838C>T (p.Arg280Cys) http://identifiers.org/clinvar/6808 ^@ NM_004984.2(KIF5A):c.827A>G (p.Tyr276Cys) http://identifiers.org/clinvar/6809 ^@ NM_004984.2(KIF5A):c.1082C>T (p.Ala361Val) http://identifiers.org/clinvar/6810 ^@ SPG7, 2-BP DEL, NT784 http://identifiers.org/clinvar/6811 ^@ SPG7, 1-BP INS, 2228A http://identifiers.org/clinvar/6812 ^@ SPG7, 9.5-KB DEL http://identifiers.org/clinvar/6813 ^@ SPG7, 2-BP DEL, 1-BP INS, 850 http://identifiers.org/clinvar/6814 ^@ SPG7, 3-BP DEL, 1742TGG http://identifiers.org/clinvar/6815 ^@ NM_003119.3(SPG7):c.2075G>C (p.Ser692Thr) http://identifiers.org/clinvar/6816 ^@ NM_003119.3(SPG7):c.233T>A (p.Leu78Ter) http://identifiers.org/clinvar/6817 ^@ SPG7, 1-BP DEL, 1616C http://identifiers.org/clinvar/6818 ^@ SPG7, 5.1-KB DEL http://identifiers.org/clinvar/6819 ^@ NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) http://identifiers.org/clinvar/6820 ^@ NM_003119.3(SPG7):c.1749G>C (p.Trp583Cys) http://identifiers.org/clinvar/6821 ^@ NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) http://identifiers.org/clinvar/6822 ^@ NM_058216.2(RAD51C):c.773G>A (p.Arg258His) http://identifiers.org/clinvar/6824 ^@ NM_058216.2(RAD51C):c.374G>T (p.Gly125Val) http://identifiers.org/clinvar/6825 ^@ NM_058216.2(RAD51C):c.414G>C (p.Leu138Phe) http://identifiers.org/clinvar/6826 ^@ NM_005189.2(CBX2):c.293C>T (p.Pro98Leu) http://identifiers.org/clinvar/6827 ^@ NM_005189.2(CBX2):c.1328G>C (p.Arg443Pro) http://identifiers.org/clinvar/6828 ^@ NM_016941.3(DLL3):c.599_603dupGCGGT (p.Pro202Alafs) http://identifiers.org/clinvar/6829 ^@ NM_016941.3(DLL3):c.945_946delAT (p.Ala317Argfs) http://identifiers.org/clinvar/6830 ^@ NM_016941.3(DLL3):c.1154G>A (p.Gly385Asp) http://identifiers.org/clinvar/6831 ^@ NM_016941.3(DLL3):c.1291_1307dup17 (p.Pro437Thrfs) http://identifiers.org/clinvar/6832 ^@ NM_016941.3(DLL3):c.618delC (p.Cys207Alafs) http://identifiers.org/clinvar/6833 ^@ NM_016941.3(DLL3):c.712C>T (p.Arg238Ter) http://identifiers.org/clinvar/6834 ^@ NM_016941.3(DLL3):c.1440delG (p.Pro481Argfs) http://identifiers.org/clinvar/6835 ^@ NM_016941.3(DLL3):c.1511G>A (p.Gly504Asp) http://identifiers.org/clinvar/6836 ^@ NM_002283.3(KRT85):c.233G>A (p.Arg78His) http://identifiers.org/clinvar/6837 ^@ NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) http://identifiers.org/clinvar/6838 ^@ ARIX, IVS1, G-A, +1 http://identifiers.org/clinvar/6839 ^@ ARIX, IVS2, G-A, -1 http://identifiers.org/clinvar/6840 ^@ NM_005169.3(PHOX2A):c.215C>T (p.Ala72Val) http://identifiers.org/clinvar/6841 ^@ NM_014236.3(GNPAT):c.632G>A (p.Arg211His) http://identifiers.org/clinvar/6842 ^@ NM_014236.3(GNPAT):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/6843 ^@ GNPAT, 2-BP INS, 848TT http://identifiers.org/clinvar/6844 ^@ GNPAT, 1-BP DEL, NT780 http://identifiers.org/clinvar/6845 ^@ GNPAT, 1-BP DEL, NT1575 http://identifiers.org/clinvar/6846 ^@ NM_016203.3(PRKAG2):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/6847 ^@ NM_016203.3(PRKAG2):c.1148A>G (p.His383Arg) http://identifiers.org/clinvar/6848 ^@ NM_016203.3(PRKAG2):c.1050_1051insTTA (p.Arg350_Glu351insLeu) http://identifiers.org/clinvar/6849 ^@ NM_016203.3(PRKAG2):c.1199C>A (p.Thr400Asn) http://identifiers.org/clinvar/6850 ^@ NM_016203.3(PRKAG2):c.1463A>T (p.Asn488Ile) http://identifiers.org/clinvar/6851 ^@ NM_016203.3(PRKAG2):c.1591C>G (p.Arg531Gly) http://identifiers.org/clinvar/6852 ^@ NM_016203.3(PRKAG2):c.1592G>A (p.Arg531Gln) http://identifiers.org/clinvar/6853 ^@ NM_016203.3(PRKAG2):c.1459T>C (p.Tyr487His) http://identifiers.org/clinvar/6854 ^@ NM_016203.3(PRKAG2):c.1589A>G (p.His530Arg) http://identifiers.org/clinvar/6855 ^@ NM_016203.3(PRKAG2):c.1516G>C (p.Glu506Gln) http://identifiers.org/clinvar/6856 ^@ NM_016203.3(PRKAG2):c.1642T>C (p.Ser548Pro) http://identifiers.org/clinvar/6857 ^@ NM_000696.3(ALDH9A1):c.419G>C (p.Cys140Ser) http://identifiers.org/clinvar/6858 ^@ NM_001106.3(ACVR2B):c.119G>A (p.Arg40His) http://identifiers.org/clinvar/6859 ^@ NM_001106.3(ACVR2B):c.1480G>A (p.Val494Ile) http://identifiers.org/clinvar/6860 ^@ NM_001287.5(CLCN7):c.1663C>T (p.Gln555Ter) http://identifiers.org/clinvar/6861 ^@ NM_001287.5(CLCN7):c.2285G>A (p.Arg762Gln) http://identifiers.org/clinvar/6862 ^@ NM_001287.5(CLCN7):c.2297T>C (p.Leu766Pro) http://identifiers.org/clinvar/6863 ^@ NM_001287.5(CLCN7):c.2299C>T (p.Arg767Trp) http://identifiers.org/clinvar/6864 ^@ CLCN7, 2-BP DEL, 2423AG http://identifiers.org/clinvar/6865 ^@ NM_001287.5(CLCN7):c.781A>T (p.Ile261Phe) http://identifiers.org/clinvar/6866 ^@ NPHS1, 2-BP DEL, 121CT http://identifiers.org/clinvar/6867 ^@ NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) http://identifiers.org/clinvar/6868 ^@ NPHS1, 2-BP INS, 1306AC http://identifiers.org/clinvar/6869 ^@ NPHS1, 1-BP INS, 3250G http://identifiers.org/clinvar/6870 ^@ NPHS1, 1-BP DEL, 1481C http://identifiers.org/clinvar/6871 ^@ NPHS1, 1-BP DEL, 3250G http://identifiers.org/clinvar/180461 ^@ NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) http://identifiers.org/clinvar/6873 ^@ NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) http://identifiers.org/clinvar/6874 ^@ NM_004646.3(NPHS1):c.793T>C (p.Cys265Arg) http://identifiers.org/clinvar/6875 ^@ NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) http://identifiers.org/clinvar/6876 ^@ NM_003816.2(ADAM9):c.1130+1G>A http://identifiers.org/clinvar/6877 ^@ NM_003816.2(ADAM9):c.766C>T (p.Arg256Ter) http://identifiers.org/clinvar/6878 ^@ NM_003816.2(ADAM9):c.490C>T (p.Arg164Ter) http://identifiers.org/clinvar/6879 ^@ NM_003816.2(ADAM9):c.411-8A>G http://identifiers.org/clinvar/6880 ^@ NM_001429.3(EP300):c.1738C>T (p.Arg580Ter) http://identifiers.org/clinvar/6881 ^@ NM_001429.3(EP300):c.6662C>A (p.Pro2221Gln) http://identifiers.org/clinvar/6882 ^@ NM_001429.3(EP300):c.1942C>T (p.Arg648Ter) http://identifiers.org/clinvar/6883 ^@ EP300, 8-BP DEL, NT2877 http://identifiers.org/clinvar/6884 ^@ EP300, EX1DEL http://identifiers.org/clinvar/6885 ^@ EP300, 1-BP DEL, 7100C http://identifiers.org/clinvar/6886 ^@ EP300, EX3-8DEL http://identifiers.org/clinvar/6887 ^@ NDUFS4, 5-BP DUP http://identifiers.org/clinvar/6888 ^@ NM_002495.3(NDUFS4):c.291delG (p.Trp97Terfs) http://identifiers.org/clinvar/6889 ^@ NM_002495.3(NDUFS4):c.316C>T (p.Arg106Ter) http://identifiers.org/clinvar/6890 ^@ NM_002495.3(NDUFS4):c.44G>A (p.Trp15Ter) http://identifiers.org/clinvar/6891 ^@ NDUFS4, IVS1AS, G-A, -1 http://identifiers.org/clinvar/6892 ^@ NM_003002.3(SDHD):c.106C>T (p.Gln36Ter) http://identifiers.org/clinvar/6893 ^@ NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) http://identifiers.org/clinvar/6894 ^@ NM_003002.3(SDHD):c.52+2T>G http://identifiers.org/clinvar/6895 ^@ NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) http://identifiers.org/clinvar/6896 ^@ NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/6897 ^@ NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr) http://identifiers.org/clinvar/6898 ^@ NM_003002.3(SDHD):c.305A>T (p.His102Leu) http://identifiers.org/clinvar/6899 ^@ NM_003002.3(SDHD):c.337_338insT (p.Asp113Valfs) http://identifiers.org/clinvar/6900 ^@ NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys) http://identifiers.org/clinvar/6901 ^@ NM_003002.3(SDHD):c.95C>A (p.Ser32Ter) http://identifiers.org/clinvar/6902 ^@ NM_003002.3(SDHD):c.443delG (p.Gly148Alafs) http://identifiers.org/clinvar/6903 ^@ NM_003002.3(SDHD):c.64C>T (p.Arg22Ter) http://identifiers.org/clinvar/6904 ^@ NM_003002.3(SDHD):c.191_192delTC (p.Leu64Profs) http://identifiers.org/clinvar/6905 ^@ NM_003002.3(SDHD):c.277_279delTAT (p.Tyr93del) http://identifiers.org/clinvar/6906 ^@ NM_003002.3(SDHD):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/6907 ^@ NM_003002.3(SDHD):c.416T>C (p.Leu139Pro) http://identifiers.org/clinvar/6908 ^@ NM_003002.3(SDHD):c.94_95delTC (p.Ala33Ilefs) http://identifiers.org/clinvar/6909 ^@ NM_003002.3(SDHD):c.149A>G (p.His50Arg) http://identifiers.org/clinvar/6910 ^@ NM_003002.3(SDHD):c.463delA (p.Met155Cysfs) http://identifiers.org/clinvar/6911 ^@ NM_003002.3(SDHD):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/6912 ^@ NM_003002.3(SDHD):c.337_340delGACT (p.Asp113Metfs) http://identifiers.org/clinvar/6913 ^@ NM_003002.3(SDHD):c.129G>A (p.Trp43Ter) http://identifiers.org/clinvar/6914 ^@ SDHD, 96-KB DEL http://identifiers.org/clinvar/6915 ^@ NM_003002.3(SDHD):c.33C>A (p.Cys11Ter) http://identifiers.org/clinvar/6916 ^@ NM_003002.3(SDHD):c.14G>A (p.Trp5Ter) http://identifiers.org/clinvar/6917 ^@ NM_003002.3(SDHD):c.57delG (p.Leu20Cysfs) http://identifiers.org/clinvar/6918 ^@ NM_003002.3(SDHD):c.433C>A (p.His145Asn) http://identifiers.org/clinvar/6919 ^@ NM_003550.2(MAD1L1):c.1947C>G (p.Tyr649Ter) http://identifiers.org/clinvar/6920 ^@ NM_003550.2(MAD1L1):c.175C>T (p.Arg59Cys) http://identifiers.org/clinvar/6921 ^@ NM_001164277.1(SLC37A4):c.1015G>T (p.Gly339Cys) http://identifiers.org/clinvar/6922 ^@ NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) http://identifiers.org/clinvar/6923 ^@ NM_001164277.1(SLC37A4):c.352T>C (p.Trp118Arg) http://identifiers.org/clinvar/6924 ^@ SLC37A4, 4-BP DEL, 2-BP INS, NT1094 http://identifiers.org/clinvar/6925 ^@ SLC37A4, 170-BP DEL, NT148 http://identifiers.org/clinvar/6926 ^@ NM_001467.5(SLC37A4):c.1042_1043delCT (p.Leu348Valfs) http://identifiers.org/clinvar/6927 ^@ SLC37A4, IVS8, 4-BP DEL http://identifiers.org/clinvar/6928 ^@ NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) http://identifiers.org/clinvar/6929 ^@ SLC37A4, 12-BP INS, NT1103 http://identifiers.org/clinvar/6930 ^@ NM_001164277.1(SLC37A4):c.703_705delGTG (p.Val236del) http://identifiers.org/clinvar/6931 ^@ SLC37A4, IVS7, G-T, +1 http://identifiers.org/clinvar/6932 ^@ SLC37A4, IVS1, G-A, +1 http://identifiers.org/clinvar/6933 ^@ NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) http://identifiers.org/clinvar/6934 ^@ NM_001164277.1(SLC37A4):c.1243C>T (p.Arg415Ter) http://identifiers.org/clinvar/6935 ^@ NM_001164277.1(SLC37A4):c.1016G>A (p.Gly339Asp) http://identifiers.org/clinvar/6936 ^@ SLC37A4, 794G-A http://identifiers.org/clinvar/6937 ^@ PITX3, 17-BP DUP, NT657 http://identifiers.org/clinvar/6938 ^@ NM_005029.3(PITX3):c.38G>A (p.Ser13Asn) http://identifiers.org/clinvar/6939 ^@ PITX3, 1-BP DEL, 650G http://identifiers.org/clinvar/6940 ^@ NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) http://identifiers.org/clinvar/6942 ^@ NM_002485.4(NBN):c.835_838delCAGA (p.Gln279Profs) http://identifiers.org/clinvar/6943 ^@ NM_002485.4(NBN):c.842dupT (p.Leu281Phefs) http://identifiers.org/clinvar/6945 ^@ NM_002485.4(NBN):c.976C>T (p.Gln326Ter) http://identifiers.org/clinvar/6946 ^@ NM_002485.4(NBN):c.511A>G (p.Ile171Val) http://identifiers.org/clinvar/6947 ^@ NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) http://identifiers.org/clinvar/6948 ^@ NM_002485.4(NBN):c.643C>T (p.Arg215Trp) http://identifiers.org/clinvar/6949 ^@ NM_002485.4(NBN):c.741_742dupGG (p.Glu248Glyfs) http://identifiers.org/clinvar/6950 ^@ NM_016239.3(MYO15A):c.6337A>T (p.Ile2113Phe) http://identifiers.org/clinvar/6951 ^@ NM_016239.3(MYO15A):c.6331A>T (p.Asn2111Tyr) http://identifiers.org/clinvar/6952 ^@ NM_016239.3(MYO15A):c.7801A>T (p.Lys2601Ter) http://identifiers.org/clinvar/6953 ^@ NM_016239.3(MYO15A):c.3685C>T (p.Gln1229Ter) http://identifiers.org/clinvar/6954 ^@ MYO15A, IVS4DS, G-T, +1 http://identifiers.org/clinvar/6955 ^@ NM_016239.3(MYO15A):c.8148G>T (p.Gln2716His) http://identifiers.org/clinvar/6956 ^@ NM_016239.3(MYO15A):c.6614C>T (p.Thr2205Ile) http://identifiers.org/clinvar/6957 ^@ NM_016239.3(MYO15A):c.3313G>T (p.Glu1105Ter) http://identifiers.org/clinvar/6958 ^@ MYO15A, 1-BP DEL, 3334G http://identifiers.org/clinvar/6959 ^@ NM_016239.3(MYO15A):c.5492G>T (p.Gly1831Val) http://identifiers.org/clinvar/6960 ^@ MYO15A, IVS50AS, G-C, -1 http://identifiers.org/clinvar/6961 ^@ MYO15A, 1-BP DEL, 10573A http://identifiers.org/clinvar/6962 ^@ MYO15A, 4-BP DEL, 9957TGAC http://identifiers.org/clinvar/6963 ^@ NM_006086.3(TUBB3):c.784C>T (p.Arg262Cys) http://identifiers.org/clinvar/6964 ^@ NM_006086.3(TUBB3):c.904G>A (p.Ala302Thr) http://identifiers.org/clinvar/6965 ^@ NM_006086.3(TUBB3):c.1249G>C (p.Asp417His) http://identifiers.org/clinvar/6966 ^@ NM_006086.3(TUBB3):c.1249G>A (p.Asp417Asn) http://identifiers.org/clinvar/6967 ^@ NM_006086.3(TUBB3):c.1228G>A (p.Glu410Lys) http://identifiers.org/clinvar/6968 ^@ NC_000008.11:g.118920356_119017859del97504 http://identifiers.org/clinvar/6969 ^@ NM_002546.3(TNFRSF11B):c.544_546delGAC (p.Asp182del) http://identifiers.org/clinvar/6970 ^@ NM_002546.3(TNFRSF11B):c.260G>A (p.Cys87Tyr) http://identifiers.org/clinvar/6971 ^@ NM_002546.3(TNFRSF11B):c.349T>C (p.Phe117Leu) http://identifiers.org/clinvar/6972 ^@ TNFRSF11B, 3-BP DEL AND 2-BP INS http://identifiers.org/clinvar/6973 ^@ TNFSF11, 5-BP DEL, IVS7+4 http://identifiers.org/clinvar/6974 ^@ NM_033012.3(TNFSF11):c.377T>A (p.Met126Lys) http://identifiers.org/clinvar/6975 ^@ NM_033012.3(TNFSF11):c.609_610delCG (p.Val204Trpfs) http://identifiers.org/clinvar/6976 ^@ NM_002555.5(SLC22A18):c.864_865insNC_000011.10:g.2919738_2919848 http://identifiers.org/clinvar/6977 ^@ NM_002555.5(SLC22A18):c.257G>A (p.Arg86His) http://identifiers.org/clinvar/6978 ^@ NM_183233.2(SLC22A18):c.698C>T (p.Ser233Phe) http://identifiers.org/clinvar/6979 ^@ NM_170695.3(TGIF1):c.470C>G (p.Ser157Cys) http://identifiers.org/clinvar/6980 ^@ NM_170695.3(TGIF1):c.575C>G (p.Pro192Arg) http://identifiers.org/clinvar/6981 ^@ NM_170695.3(TGIF1):c.838A>G (p.Thr280Ala) http://identifiers.org/clinvar/6982 ^@ NM_170695.3(TGIF1):c.872C>T (p.Ser291Phe) http://identifiers.org/clinvar/6983 ^@ NM_170695.3(TGIF1):c.177C>G (p.Tyr59Ter) http://identifiers.org/clinvar/6984 ^@ NM_003244.3(TGIF1):c.320A>T (p.Gln107Leu) http://identifiers.org/clinvar/6985 ^@ FKBP5, IVS2, C-T http://identifiers.org/clinvar/6986 ^@ NM_004473.3(FOXE1):c.194C>T (p.Ala65Val) http://identifiers.org/clinvar/6987 ^@ NM_004473.3(FOXE1):c.170G>A (p.Ser57Asn) http://identifiers.org/clinvar/6988 ^@ NM_004473.3(FOXE1):c.304C>T (p.Arg102Cys) http://identifiers.org/clinvar/6989 ^@ NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe) http://identifiers.org/clinvar/6990 ^@ NM_002408.3(MGAT2):c.785A>G (p.His262Arg) http://identifiers.org/clinvar/6991 ^@ NM_002408.3(MGAT2):c.952A>G (p.Asn318Asp) http://identifiers.org/clinvar/6992 ^@ NM_002408.3(MGAT2):c.1017T>A (p.Cys339Ter) http://identifiers.org/clinvar/6993 ^@ NM_004291.3(CARTPT):c.183G>C (p.Leu61Phe) http://identifiers.org/clinvar/6994 ^@ NM_002543.3(OLR1):c.501G>C (p.Lys167Asn) http://identifiers.org/clinvar/6995 ^@ NM_002543.3(OLR1):c.*188T= http://identifiers.org/clinvar/6996 ^@ NM_004631.4(LRP8):c.2855G>A (p.Arg952Gln) http://identifiers.org/clinvar/6997 ^@ NM_001264.4(CDSN):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/6998 ^@ NM_001264.4(CDSN):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/6999 ^@ NM_001040167.1(LFNG):c.564C>A (p.Phe188Leu) http://identifiers.org/clinvar/7000 ^@ NM_002316.3(LMX1B):c.807C>A (p.Asn269Lys) http://identifiers.org/clinvar/7001 ^@ NM_002316.3(LMX1B):c.661C>T (p.Arg221Ter) http://identifiers.org/clinvar/7002 ^@ LMX1B, 1-BP INS, 713A http://identifiers.org/clinvar/7003 ^@ NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe) http://identifiers.org/clinvar/7004 ^@ LMX1B, 2-BP DEL, 233TG http://identifiers.org/clinvar/7005 ^@ NM_002316.3(LMX1B):c.244C>T (p.Gln82Ter) http://identifiers.org/clinvar/7006 ^@ NM_002316.3(LMX1B):c.691C>T (p.Arg231Ter) http://identifiers.org/clinvar/7007 ^@ NM_002316.3(LMX1B):c.668G>A (p.Arg223Gln) http://identifiers.org/clinvar/7008 ^@ LMX1B, 672, G-A, +1 http://identifiers.org/clinvar/7009 ^@ LMX1B, 672, G-T, +1 http://identifiers.org/clinvar/7010 ^@ NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter) http://identifiers.org/clinvar/7011 ^@ LMX1B, 17-BP DEL http://identifiers.org/clinvar/7012 ^@ LMX1B, DEL http://identifiers.org/clinvar/242803 ^@ NM_005422.2(TECTA):c.5458C>T (p.Leu1820Phe) http://identifiers.org/clinvar/7014 ^@ NM_005422.2(TECTA):c.5609A>G (p.Tyr1870Cys) http://identifiers.org/clinvar/7015 ^@ TECTA, IVS9DS, G-A, +1 http://identifiers.org/clinvar/7016 ^@ NM_005422.2(TECTA):c.3169T>A (p.Cys1057Ser) http://identifiers.org/clinvar/7017 ^@ NM_005422.2(TECTA):c.4856G>C (p.Cys1619Ser) http://identifiers.org/clinvar/7018 ^@ TECTA, 1-BP INS, 649C http://identifiers.org/clinvar/7019 ^@ TECTA, 1-BP DEL, 6037G http://identifiers.org/clinvar/7020 ^@ NM_005422.2(TECTA):c.5509T>G (p.Cys1837Gly) http://identifiers.org/clinvar/7021 ^@ NM_005422.2(TECTA):c.6062G>A (p.Arg2021His) http://identifiers.org/clinvar/7022 ^@ NM_005422.2(TECTA):c.5668C>T (p.Arg1890Cys) http://identifiers.org/clinvar/7023 ^@ NM_005422.2(TECTA):c.5509T>C (p.Cys1837Arg) http://identifiers.org/clinvar/7024 ^@ TECTA, 5331G-A http://identifiers.org/clinvar/7025 ^@ NM_001001502.2(SNCB):c.208G>A (p.Val70Met) http://identifiers.org/clinvar/7026 ^@ NM_001001502.2(SNCB):c.368C>A (p.Pro123His) http://identifiers.org/clinvar/7027 ^@ MTRR, 4-BP DEL, NT1675 http://identifiers.org/clinvar/7028 ^@ MTRR, 3-BP DEL, 1726TTG http://identifiers.org/clinvar/7029 ^@ NM_002454.2(MTRR):c.66A>G (p.Ile22Met) http://identifiers.org/clinvar/7030 ^@ NM_002454.2(MTRR):c.1459G>A (p.Gly487Arg) http://identifiers.org/clinvar/7031 ^@ MTRR, 2-BP INS, 1623TA http://identifiers.org/clinvar/7032 ^@ MTRR, 140-BP INS, NT903 http://identifiers.org/clinvar/7033 ^@ NM_002454.2(MTRR):c.1361C>T (p.Ser454Leu) http://identifiers.org/clinvar/7034 ^@ NM_004562.2(PRKN):c.172-?_871+?del http://identifiers.org/clinvar/7035 ^@ NM_004562.2(PRKN):c.413-?_534+?del http://identifiers.org/clinvar/7036 ^@ NM_004562.2(PRKN):c.719C>G (p.Thr240Arg) http://identifiers.org/clinvar/7037 ^@ NM_004562.2(PRKN):c.931C>T (p.Gln311Ter) http://identifiers.org/clinvar/7038 ^@ NM_004562.2(PRKN):c.245C>A (p.Ala82Glu) http://identifiers.org/clinvar/7039 ^@ PARK2, DEL http://identifiers.org/clinvar/7040 ^@ NM_004562.2(PRKN):c.8-?_171+?del http://identifiers.org/clinvar/7041 ^@ NM_004562.2(PRKN):c.872-?_1083+?del http://identifiers.org/clinvar/7042 ^@ NM_004562.2(PRKN):c.1358G>A (p.Trp453Ter) http://identifiers.org/clinvar/7043 ^@ NM_004562.2(PRKN):c.483A>T (p.Lys161Asn) http://identifiers.org/clinvar/7044 ^@ PARK2, 1-BP DEL, 202A http://identifiers.org/clinvar/7045 ^@ NM_004562.2(PRKN):c.735-?_871+?del http://identifiers.org/clinvar/7046 ^@ NM_004562.2(PRKN):c.635G>A (p.Cys212Tyr) http://identifiers.org/clinvar/7047 ^@ NM_004562.2(PRKN):c.167T>A (p.Val56Glu) http://identifiers.org/clinvar/7048 ^@ PARK2, 1-BP DEL, 255A http://identifiers.org/clinvar/7049 ^@ NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del http://identifiers.org/clinvar/7050 ^@ NM_004562.2(PRKN):c.823C>T (p.Arg275Trp) http://identifiers.org/clinvar/7051 ^@ NM_004562.2(PRKN):c.633A>T (p.Lys211Asn) http://identifiers.org/clinvar/7052 ^@ PARK2, 1-BP DEL, 1072T http://identifiers.org/clinvar/7053 ^@ NM_004562.2(PRKN):c.7+1G>T http://identifiers.org/clinvar/7054 ^@ NM_004562.2(PRKN):c.719C>T (p.Thr240Met) http://identifiers.org/clinvar/7055 ^@ PARK2, EX5-6 DEL http://identifiers.org/clinvar/7056 ^@ NM_012233.2(RAB3GAP1):c.2801delC (p.Pro934Leufs) http://identifiers.org/clinvar/7057 ^@ NM_012233.2(RAB3GAP1):c.649-2A>G http://identifiers.org/clinvar/7058 ^@ NM_001172435.1(RAB3GAP1):c.748+1G>A http://identifiers.org/clinvar/7059 ^@ NM_001172435.1(RAB3GAP1):c.2011C>T (p.Arg671Ter) http://identifiers.org/clinvar/7060 ^@ NM_001172435.1(RAB3GAP1):c.1734G>A (p.Trp578Ter) http://identifiers.org/clinvar/7061 ^@ NM_001172435.1(RAB3GAP1):c.1410C>A (p.Tyr470Ter) http://identifiers.org/clinvar/7062 ^@ NM_012233.2(RAB3GAP1):c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs) http://identifiers.org/clinvar/7063 ^@ NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del http://identifiers.org/clinvar/7064 ^@ NM_007262.4(PARK7):c.497T>C (p.Leu166Pro) http://identifiers.org/clinvar/7065 ^@ NM_007262.4(PARK7):c.78G>A (p.Met26Ile) http://identifiers.org/clinvar/7066 ^@ NM_007262.4(PARK7):c.446A>C (p.Asp149Ala) http://identifiers.org/clinvar/7067 ^@ NM_007262.4(PARK7):c.192G>C (p.Glu64Asp) http://identifiers.org/clinvar/7068 ^@ NM_007262.4(PARK7):c.487G>A (p.Glu163Lys) http://identifiers.org/clinvar/7069 ^@ NM_007262.4(PARK7):c.115G>T (p.Ala39Ser) http://identifiers.org/clinvar/7070 ^@ NM_006009.3(TUBA1A):c.790C>T (p.Arg264Cys) http://identifiers.org/clinvar/7071 ^@ NM_006009.3(TUBA1A):c.1205G>A (p.Arg402His) http://identifiers.org/clinvar/7072 ^@ NM_006009.3(TUBA1A):c.562A>C (p.Ile188Leu) http://identifiers.org/clinvar/7073 ^@ NM_006009.3(TUBA1A):c.787C>A (p.Pro263Thr) http://identifiers.org/clinvar/7074 ^@ NM_006009.3(TUBA1A):c.1256C>T (p.Ser419Leu) http://identifiers.org/clinvar/7075 ^@ NM_006009.3(TUBA1A):c.1190T>C (p.Leu397Pro) http://identifiers.org/clinvar/7076 ^@ NM_006009.3(TUBA1A):c.1264C>T (p.Arg422Cys) http://identifiers.org/clinvar/7077 ^@ NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His) http://identifiers.org/clinvar/7078 ^@ NM_002700.2(POU4F3):c.880_887delGCTATCCA (p.Ile295Thrfs) http://identifiers.org/clinvar/7079 ^@ NM_002700.2(POU4F3):c.865C>T (p.Leu289Phe) http://identifiers.org/clinvar/7080 ^@ NM_002700.2(POU4F3):c.668T>C (p.Leu223Pro) http://identifiers.org/clinvar/7081 ^@ NM_001408.2(CELSR2):c.*919G>T http://identifiers.org/clinvar/7082 ^@ NM_004336.4(BUB1):c.422+1G>A http://identifiers.org/clinvar/7083 ^@ NM_004336.4(BUB1):c.1475C>A (p.Ser492Tyr) http://identifiers.org/clinvar/7084 ^@ NM_000305.2(PON2):c.932C>G (p.Ser311Cys) http://identifiers.org/clinvar/7085 ^@ NM_000305.2(PON2):c.443C>G (p.Ala148Gly) http://identifiers.org/clinvar/7086 ^@ NM_005025.4(SERPINI1):c.145T>C (p.Ser49Pro) http://identifiers.org/clinvar/7087 ^@ SERPINI1, SER52ARG http://identifiers.org/clinvar/7088 ^@ NM_005025.4(SERPINI1):c.1013A>G (p.His338Arg) http://identifiers.org/clinvar/7089 ^@ NM_001122752.1(SERPINI1):c.1175G>A (p.Gly392Glu) http://identifiers.org/clinvar/7090 ^@ NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg) http://identifiers.org/clinvar/7091 ^@ NM_013324.5(CISH):c.-524T>A http://identifiers.org/clinvar/7092 ^@ NM_001040667.2(HSF4):c.341T>C (p.Leu114Pro) http://identifiers.org/clinvar/7093 ^@ NM_001040667.2(HSF4):c.355C>T (p.Arg119Cys) http://identifiers.org/clinvar/7094 ^@ NM_001040667.2(HSF4):c.56C>A (p.Ala19Asp) http://identifiers.org/clinvar/7095 ^@ NM_001040667.2(HSF4):c.256A>G (p.Ile86Val) http://identifiers.org/clinvar/7096 ^@ NM_001008211.1(OPTN):c.148G>A (p.Glu50Lys) http://identifiers.org/clinvar/7097 ^@ OPTN, 2-BP INS, 691AG http://identifiers.org/clinvar/7098 ^@ NM_001008211.1(OPTN):c.1634G>A (p.Arg545Gln) http://identifiers.org/clinvar/7099 ^@ NM_001008211.1(OPTN):c.293T>A (p.Met98Lys) http://identifiers.org/clinvar/7100 ^@ OPTN, EX5DEL http://identifiers.org/clinvar/7101 ^@ NM_001008211.1(OPTN):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/7102 ^@ NM_001008211.1(OPTN):c.1433A>G (p.Glu478Gly) http://identifiers.org/clinvar/7103 ^@ NM_002942.4(ROBO2):c.2834T>C (p.Ile945Thr) http://identifiers.org/clinvar/7104 ^@ NM_002942.4(ROBO2):c.3706G>A (p.Ala1236Thr) http://identifiers.org/clinvar/7105 ^@ NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) http://identifiers.org/clinvar/7106 ^@ NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del) http://identifiers.org/clinvar/7107 ^@ NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) http://identifiers.org/clinvar/7108 ^@ NM_000492.3(CFTR):c.328G>C (p.Asp110His) http://identifiers.org/clinvar/7109 ^@ NM_000492.3(CFTR):c.350G>A (p.Arg117His) http://identifiers.org/clinvar/7110 ^@ NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro) http://identifiers.org/clinvar/7111 ^@ NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) http://identifiers.org/clinvar/7112 ^@ NM_000492.3(CFTR):c.1585-1G>A http://identifiers.org/clinvar/7113 ^@ NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr) http://identifiers.org/clinvar/7114 ^@ NM_000492.3(CFTR):c.1687T>A (p.Tyr563Asn) http://identifiers.org/clinvar/7115 ^@ NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) http://identifiers.org/clinvar/7116 ^@ NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) http://identifiers.org/clinvar/7117 ^@ NM_000492.3(CFTR):c.1646G>T (p.Ser549Ile) http://identifiers.org/clinvar/40190 ^@ NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) http://identifiers.org/clinvar/7119 ^@ NM_000492.3(CFTR):c.1721C>A (p.Pro574His) http://identifiers.org/clinvar/7120 ^@ NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) http://identifiers.org/clinvar/7122 ^@ NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter) http://identifiers.org/clinvar/7123 ^@ NM_000492.3(CFTR):c.1675G>A (p.Ala559Thr) http://identifiers.org/clinvar/7124 ^@ NM_000492.3(CFTR):c.3659delC (p.Thr1220Lysfs) http://identifiers.org/clinvar/7125 ^@ NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter) http://identifiers.org/clinvar/7126 ^@ NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) http://identifiers.org/clinvar/7127 ^@ NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter) http://identifiers.org/clinvar/7128 ^@ NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) http://identifiers.org/clinvar/7129 ^@ NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) http://identifiers.org/clinvar/7130 ^@ NM_000492.3(CFTR):c.1408G>A (p.Val470Met) http://identifiers.org/clinvar/7131 ^@ NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) http://identifiers.org/clinvar/7132 ^@ NM_000492.3(CFTR):c.1373G>T (p.Gly458Val) http://identifiers.org/clinvar/7133 ^@ NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter) http://identifiers.org/clinvar/7134 ^@ NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs) http://identifiers.org/clinvar/7135 ^@ NM_000492.3(CFTR):c.1081delT (p.Trp361Glyfs) http://identifiers.org/clinvar/7136 ^@ NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) http://identifiers.org/clinvar/7137 ^@ NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) http://identifiers.org/clinvar/7138 ^@ NM_000492.3(CFTR):c.3717+4A>G http://identifiers.org/clinvar/7139 ^@ NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) http://identifiers.org/clinvar/7140 ^@ NM_000492.3(CFTR):c.1545_1546delTA (p.Tyr515Terfs) http://identifiers.org/clinvar/7141 ^@ NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) http://identifiers.org/clinvar/7142 ^@ NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) http://identifiers.org/clinvar/7143 ^@ NM_000492.3(CFTR):c.254G>A (p.Gly85Glu) http://identifiers.org/clinvar/7144 ^@ NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) http://identifiers.org/clinvar/7145 ^@ NM_000492.3(CFTR):c.720_741del22 (p.Gly241Glufs) http://identifiers.org/clinvar/7146 ^@ NM_000492.3(CFTR):c.424delA (p.Ile142Phefs) http://identifiers.org/clinvar/7147 ^@ NM_000492.3(CFTR):c.429delT (p.Phe143Leufs) http://identifiers.org/clinvar/7149 ^@ NM_000492.3(CFTR):c.2737_2738insG (p.Tyr913Terfs) http://identifiers.org/clinvar/7150 ^@ NM_000492.3(CFTR):c.1558G>T (p.Val520Phe) http://identifiers.org/clinvar/7151 ^@ NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) http://identifiers.org/clinvar/7152 ^@ NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) http://identifiers.org/clinvar/7153 ^@ NM_000492.3(CFTR):c.933C>G (p.Phe311Leu) http://identifiers.org/clinvar/7154 ^@ NM_000492.3(CFTR):c.1093_1094delCT (p.Leu365Trpfs) http://identifiers.org/clinvar/7155 ^@ NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) http://identifiers.org/clinvar/7156 ^@ NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) http://identifiers.org/clinvar/7157 ^@ NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter) http://identifiers.org/clinvar/7158 ^@ NM_000492.3(CFTR):c.3197G>A (p.Arg1066His) http://identifiers.org/clinvar/7159 ^@ NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) http://identifiers.org/clinvar/7160 ^@ NM_000492.3(CFTR):c.3873+1G>A http://identifiers.org/clinvar/7161 ^@ NM_000492.3(CFTR):c.3184_3188dupCTATG (p.Trp1063Cysfs) http://identifiers.org/clinvar/7162 ^@ NM_000492.3(CFTR):c.3196C>T (p.Arg1066Cys) http://identifiers.org/clinvar/7163 ^@ NM_000492.3(CFTR):c.948delT (p.Phe316Leufs) http://identifiers.org/clinvar/7164 ^@ NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) http://identifiers.org/clinvar/7165 ^@ NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) http://identifiers.org/clinvar/7166 ^@ NM_000492.3:c.3718-2477C>T http://identifiers.org/clinvar/7167 ^@ NM_000492.3(CFTR):c.3848G>T (p.Arg1283Met) http://identifiers.org/clinvar/7168 ^@ NM_000492.3(CFTR):c.1766+1G>A http://identifiers.org/clinvar/7169 ^@ NM_000492.3(CFTR):c.1075C>A (p.Gln359Lys) http://identifiers.org/clinvar/7170 ^@ NM_000492.3(CFTR):c.744-14_744-3delTGATTGATTTAC http://identifiers.org/clinvar/7171 ^@ NM_000492.3(CFTR):c.1040G>T (p.Arg347Leu) http://identifiers.org/clinvar/7172 ^@ NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) http://identifiers.org/clinvar/7173 ^@ NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) http://identifiers.org/clinvar/7174 ^@ NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter) http://identifiers.org/clinvar/7175 ^@ NM_000492.3(CFTR):c.2490+1G>A http://identifiers.org/clinvar/7176 ^@ NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) http://identifiers.org/clinvar/7177 ^@ NM_000492.3(CFTR):c.3718-1G>A http://identifiers.org/clinvar/7178 ^@ NM_000492.3(CFTR):c.3767dupC (p.Leu1258Phefs) http://identifiers.org/clinvar/7179 ^@ NM_000492.3(CFTR):c.171G>A (p.Trp57Ter) http://identifiers.org/clinvar/7180 ^@ NM_000492.3(CFTR):c.3937C>T (p.Gln1313Ter) http://identifiers.org/clinvar/7181 ^@ NM_000492.3(CFTR):c.274G>A (p.Glu92Lys) http://identifiers.org/clinvar/7182 ^@ NM_000492.3(CFTR):c.1040G>A (p.Arg347His) http://identifiers.org/clinvar/7183 ^@ NM_000492.3(CFTR):c.271G>A (p.Gly91Arg) http://identifiers.org/clinvar/7184 ^@ NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser) http://identifiers.org/clinvar/7185 ^@ NM_000492.3(CFTR):c.2175dupA (p.Glu726Argfs) http://identifiers.org/clinvar/7186 ^@ NM_000492.3(CFTR):c.274G>T (p.Glu92Ter) http://identifiers.org/clinvar/7187 ^@ NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) http://identifiers.org/clinvar/7188 ^@ NM_000492.3(CFTR):c.459_476del18 (p.Ala155_Ile160del) http://identifiers.org/clinvar/7189 ^@ NM_000492.3(CFTR):c.1210-12_1210-6T[5] http://identifiers.org/clinvar/7190 ^@ NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) http://identifiers.org/clinvar/7191 ^@ CFTR, GLN524HIS http://identifiers.org/clinvar/7192 ^@ NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) http://identifiers.org/clinvar/7193 ^@ NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) http://identifiers.org/clinvar/7194 ^@ NM_000492.3(CFTR):c.3266G>A (p.Trp1089Ter) http://identifiers.org/clinvar/7196 ^@ NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) http://identifiers.org/clinvar/7197 ^@ NM_000492.3(CFTR):c.326A>G (p.Tyr109Cys) http://identifiers.org/clinvar/7198 ^@ NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) http://identifiers.org/clinvar/7199 ^@ NM_000492.3(CFTR):c.273+4A>G http://identifiers.org/clinvar/7201 ^@ NM_000492.3(CFTR):c.1654C>T (p.Gln552Ter) http://identifiers.org/clinvar/7202 ^@ NM_000492.3(CFTR):c.1943A>T (p.Asp648Val) http://identifiers.org/clinvar/7203 ^@ NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter) http://identifiers.org/clinvar/7204 ^@ NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) http://identifiers.org/clinvar/7205 ^@ NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) http://identifiers.org/clinvar/7206 ^@ NM_000492.3(CFTR):c.805_806delAT (p.Ile269Profs) http://identifiers.org/clinvar/7207 ^@ NM_000492.3(CFTR):c.2845C>T (p.His949Tyr) http://identifiers.org/clinvar/7208 ^@ NM_000492.3(CFTR):c.3194T>C (p.Leu1065Pro) http://identifiers.org/clinvar/7209 ^@ NM_000492.3(CFTR):c.3212A>C (p.Gln1071Pro) http://identifiers.org/clinvar/7210 ^@ NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) http://identifiers.org/clinvar/7211 ^@ NM_000492.3(CFTR):c.3276C>G (p.Tyr1092Ter) http://identifiers.org/clinvar/7212 ^@ NM_000492.3(CFTR):c.3611G>A (p.Trp1204Ter) http://identifiers.org/clinvar/7213 ^@ NM_000492.3(CFTR):c.1083delG (p.Trp361Cysfs) http://identifiers.org/clinvar/7214 ^@ NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) http://identifiers.org/clinvar/7215 ^@ NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val) http://identifiers.org/clinvar/7216 ^@ NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) http://identifiers.org/clinvar/7217 ^@ NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) http://identifiers.org/clinvar/7218 ^@ NM_000492.3(CFTR):c.3907A>C (p.Asn1303His) http://identifiers.org/clinvar/7219 ^@ NM_000492.3(CFTR):c.1477_1478delCA (p.Gln493Valfs) http://identifiers.org/clinvar/7220 ^@ NM_000492.3(CFTR):c.2291delG (p.Arg764Glnfs) http://identifiers.org/clinvar/7221 ^@ NM_000492.3(CFTR):c.3161delA (p.His1054Leufs) http://identifiers.org/clinvar/7222 ^@ NM_000492.3(CFTR):c.3532_3535dupTCAA (p.Thr1179Ilefs) http://identifiers.org/clinvar/7223 ^@ NM_000492.3(CFTR):c.4364C>G (p.Ser1455Ter) http://identifiers.org/clinvar/7225 ^@ NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln) http://identifiers.org/clinvar/7226 ^@ NM_000492.3(CFTR):c.-102A= http://identifiers.org/clinvar/7227 ^@ NG_016465.3:g.(37526_37529)_(58606_58609) http://identifiers.org/clinvar/7228 ^@ NM_000492.3(CFTR):c.3469-20T>C http://identifiers.org/clinvar/7229 ^@ NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) http://identifiers.org/clinvar/7230 ^@ NM_000492.3(CFTR):c.3492dupT (p.Lys1165Terfs) http://identifiers.org/clinvar/7231 ^@ NM_000492.3(CFTR):c.3744delA (p.Lys1250Argfs) http://identifiers.org/clinvar/7232 ^@ NM_000492.3(CFTR):c.262_263delTT (p.Leu88Ilefs) http://identifiers.org/clinvar/7233 ^@ CFTR, HIS1282TER http://identifiers.org/clinvar/7234 ^@ CFTR, ALA445GLU http://identifiers.org/clinvar/7235 ^@ NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) http://identifiers.org/clinvar/7236 ^@ NM_000492.3(CFTR):c.860dupA (p.Asn287Lysfs) http://identifiers.org/clinvar/7237 ^@ NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) http://identifiers.org/clinvar/7238 ^@ NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) http://identifiers.org/clinvar/53798 ^@ NM_000492.3(CFTR):c.3731G>T (p.Gly1244Val) http://identifiers.org/clinvar/7240 ^@ NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) http://identifiers.org/clinvar/7241 ^@ NM_003001.3(SDHC):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/7242 ^@ NM_003001.3(SDHC):c.405+1G>T http://identifiers.org/clinvar/7243 ^@ SDHC, 8,372-BP DEL http://identifiers.org/clinvar/7244 ^@ NM_003001.3(SDHC):c.405+1G>A http://identifiers.org/clinvar/7245 ^@ NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) http://identifiers.org/clinvar/7246 ^@ NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) http://identifiers.org/clinvar/7247 ^@ NM_033022.3(RPS24):c.4_6delAACinsTACGGATAG (p.Asn2_Lys130delinsTyrGly) http://identifiers.org/clinvar/7248 ^@ NM_000386.3(BLMH):c.1327A>G (p.Ile443Val) http://identifiers.org/clinvar/7249 ^@ NM_005251.2(FOXC2):c.297C>G (p.Tyr99Ter) http://identifiers.org/clinvar/7250 ^@ FOXC2, 4-BP DUP, NT1093 http://identifiers.org/clinvar/7251 ^@ FOXC2, 11-BP DEL, NT290 http://identifiers.org/clinvar/7252 ^@ FOXC2, 1-BP DEL, 1331A http://identifiers.org/clinvar/7253 ^@ FOXC2, 1-BP INS, 209T http://identifiers.org/clinvar/7254 ^@ FOXC2, 2-BP INS, 201CT http://identifiers.org/clinvar/7255 ^@ FOXC2, 1-BP INS, 589C http://identifiers.org/clinvar/7256 ^@ FOXC2, 1-BP DEL, 505A http://identifiers.org/clinvar/7257 ^@ FOXC2, 8-BP DEL, NT914 http://identifiers.org/clinvar/7258 ^@ FOXC2, 1-BP INS, 1006A http://identifiers.org/clinvar/7259 ^@ FOXC2, 5-BP INS/79-BP DEL, NT602 http://identifiers.org/clinvar/7260 ^@ NM_005251.2(FOXC2):c.374C>T (p.Ser125Leu) http://identifiers.org/clinvar/7261 ^@ NM_005251.2(FOXC2):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/7262 ^@ NM_005603.4(ATP8B1):c.923G>T (p.Gly308Val) http://identifiers.org/clinvar/7263 ^@ NM_005603.4(ATP8B1):c.2674G>A (p.Gly892Arg) http://identifiers.org/clinvar/7264 ^@ NM_005603.4(ATP8B1):c.863T>C (p.Leu288Ser) http://identifiers.org/clinvar/7265 ^@ NM_005603.4(ATP8B1):c.2097+2T>C http://identifiers.org/clinvar/7266 ^@ ATP8B1, 1.4-KB DEL http://identifiers.org/clinvar/7267 ^@ NM_005603.4(ATP8B1):c.1982T>C (p.Ile661Thr) http://identifiers.org/clinvar/7268 ^@ ATP8B1, 9-BP DEL, NT2384 http://identifiers.org/clinvar/7269 ^@ NM_005603.4(ATP8B1):c.1660G>A (p.Asp554Asn) http://identifiers.org/clinvar/7270 ^@ ATP8B1, IVS23AS, C-A, -3 http://identifiers.org/clinvar/7271 ^@ NM_005603.4(ATP8B1):c.208G>A (p.Asp70Asn) http://identifiers.org/clinvar/7272 ^@ NM_005603.4(ATP8B1):c.2599C>T (p.Arg867Cys) http://identifiers.org/clinvar/7273 ^@ NM_005603.4(ATP8B1):c.1367C>T (p.Thr456Met) http://identifiers.org/clinvar/7274 ^@ NM_005603.4(ATP8B1):c.1804C>T (p.Arg602Ter) http://identifiers.org/clinvar/7275 ^@ NM_003321.4(TUFM):c.1016G>A (p.Arg339Gln) http://identifiers.org/clinvar/7276 ^@ DNM2, 9-BP DEL, NT1652 http://identifiers.org/clinvar/7277 ^@ NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu) http://identifiers.org/clinvar/7278 ^@ DNM2, LYS558 DEL http://identifiers.org/clinvar/7279 ^@ NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) http://identifiers.org/clinvar/7280 ^@ NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) http://identifiers.org/clinvar/7281 ^@ NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) http://identifiers.org/clinvar/7282 ^@ NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) http://identifiers.org/clinvar/7283 ^@ NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) http://identifiers.org/clinvar/7284 ^@ NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) http://identifiers.org/clinvar/7285 ^@ NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) http://identifiers.org/clinvar/7286 ^@ NM_001005360.2(DNM2):c.1856C>G (p.Ser619Trp) http://identifiers.org/clinvar/7287 ^@ NM_001190716.1(DNM2):c.1072G>A (p.Gly358Arg) http://identifiers.org/clinvar/7288 ^@ NM_207585.2(IFNAR2):c.23T>C (p.Phe8Ser) http://identifiers.org/clinvar/7289 ^@ NM_001814.5(CTSC):c.628C>T (p.Arg210Ter) http://identifiers.org/clinvar/7290 ^@ NM_001814.5(CTSC):c.890-1G>A http://identifiers.org/clinvar/7291 ^@ NM_001814.5(CTSC):c.755A>T (p.Gln252Leu) http://identifiers.org/clinvar/7292 ^@ NM_001814.5(CTSC):c.856C>T (p.Gln286Ter) http://identifiers.org/clinvar/7293 ^@ NM_001814.5(CTSC):c.1047delA (p.Gly350Valfs) http://identifiers.org/clinvar/7294 ^@ NM_001814.5(CTSC):c.857A>G (p.Gln286Arg) http://identifiers.org/clinvar/7296 ^@ NM_001814.5(CTSC):c.116G>C (p.Trp39Ser) http://identifiers.org/clinvar/7297 ^@ NM_001814.5(CTSC):c.901G>A (p.Gly301Ser) http://identifiers.org/clinvar/7298 ^@ NM_001814.5(CTSC):c.1287G>C (p.Trp429Cys) http://identifiers.org/clinvar/7299 ^@ NM_001814.5(CTSC):c.380A>C (p.His127Pro) http://identifiers.org/clinvar/7300 ^@ NM_001814.5(CTSC):c.1235A>G (p.Tyr412Cys) http://identifiers.org/clinvar/7301 ^@ NM_001814.5(CTSC):c.1040A>G (p.Tyr347Cys) http://identifiers.org/clinvar/7302 ^@ NM_001482.2(GATM):c.446G>A (p.Trp149Ter) http://identifiers.org/clinvar/7303 ^@ NM_001524.1(HCRT):c.47T>G (p.Leu16Arg) http://identifiers.org/clinvar/7304 ^@ NM_004560.3(ROR2):c.2265C>A (p.Tyr755Ter) http://identifiers.org/clinvar/7305 ^@ NM_004560.3(ROR2):c.2246G>A (p.Trp749Ter) http://identifiers.org/clinvar/7306 ^@ NM_004560.3(ROR2):c.2249delG (p.Gly750Alafs) http://identifiers.org/clinvar/7307 ^@ NM_004560.3(ROR2):c.1504C>T (p.Gln502Ter) http://identifiers.org/clinvar/7308 ^@ NM_004560.3(ROR2):c.550C>T (p.Arg184Cys) http://identifiers.org/clinvar/7309 ^@ NM_004560.3(ROR2):c.2160G>A (p.Trp720Ter) http://identifiers.org/clinvar/7310 ^@ NM_004560.3(ROR2):c.613C>T (p.Arg205Ter) http://identifiers.org/clinvar/7311 ^@ NM_004560.3(ROR2):c.1321_1325delCGGCG (p.Arg441Thrfs) http://identifiers.org/clinvar/7312 ^@ NM_004560.3(ROR2):c.2247G>A (p.Trp749Ter) http://identifiers.org/clinvar/7313 ^@ NM_004560.3(ROR2):c.1937_1943delACAAGCT (p.Tyr646Cysfs) http://identifiers.org/clinvar/7314 ^@ NM_004560.3(ROR2):c.355C>T (p.Arg119Ter) http://identifiers.org/clinvar/7315 ^@ NG_008089.1:g.218534_227384del8851 http://identifiers.org/clinvar/7316 ^@ ROR2, 1-BP INS, 1366C http://identifiers.org/clinvar/7317 ^@ NM_004560.3(ROR2):c.2244delC (p.Trp749Glyfs) http://identifiers.org/clinvar/7318 ^@ NM_004560.3(ROR2):c.1324C>T (p.Arg442Ter) http://identifiers.org/clinvar/7319 ^@ NR_001566.1(TERC):n.374_1194del821 http://identifiers.org/clinvar/7320 ^@ NR_001566.1(TERC):n.408C>G http://identifiers.org/clinvar/7321 ^@ NR_001566.1(TERC):n.107_108delGCinsAG http://identifiers.org/clinvar/7322 ^@ NR_001566.1(TERC):n.204C>G http://identifiers.org/clinvar/7323 ^@ NR_001566.1(TERC):n.58G>A http://identifiers.org/clinvar/7324 ^@ NR_001566.1(TERC):n.72C>G http://identifiers.org/clinvar/7325 ^@ NR_001566.1(TERC):n.110_113delGACT http://identifiers.org/clinvar/7326 ^@ NR_001566.1(TERC):n.116C>T http://identifiers.org/clinvar/7327 ^@ NR_001566.1(TERC):n.98G>A http://identifiers.org/clinvar/7328 ^@ TERC, 325G-T http://identifiers.org/clinvar/7329 ^@ NM_001138.1(AGRP):c.199G>A (p.Ala67Thr) http://identifiers.org/clinvar/7330 ^@ NM_005144.4(HR):c.3064A>G (p.Thr1022Ala) http://identifiers.org/clinvar/7331 ^@ NM_005144.4(HR):c.3407T>A (p.Val1136Asp) http://identifiers.org/clinvar/7332 ^@ HR, IVS12DS, G-A, +1 http://identifiers.org/clinvar/7333 ^@ HR, 1-BP DEL, 2147C http://identifiers.org/clinvar/7334 ^@ HR, 1-BP DEL, 3434C http://identifiers.org/clinvar/7335 ^@ NM_005144.4(HR):c.1837C>T (p.Arg613Ter) http://identifiers.org/clinvar/7336 ^@ HR, 1-BP DEL, 1256C http://identifiers.org/clinvar/7337 ^@ HR, 21-BP DEL, NT1261 http://identifiers.org/clinvar/7338 ^@ HR, 2-BP DEL, 2847AG http://identifiers.org/clinvar/7339 ^@ NM_005144.4(HR):c.3526C>T (p.Gln1176Ter) http://identifiers.org/clinvar/7340 ^@ NM_005144.4(HR):c.3034G>A (p.Asp1012Asn) http://identifiers.org/clinvar/7341 ^@ NM_005144.4(HR):c.-320T>C http://identifiers.org/clinvar/7342 ^@ NM_005144.4(HR):c.-315C>T http://identifiers.org/clinvar/7343 ^@ NM_005144.4(HR):c.-249C>G http://identifiers.org/clinvar/7344 ^@ NM_005144.4(HR):c.-218A>G http://identifiers.org/clinvar/7345 ^@ NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) http://identifiers.org/clinvar/7346 ^@ NM_004637.5(RAB7A):c.484G>A (p.Val162Met) http://identifiers.org/clinvar/7347 ^@ NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) http://identifiers.org/clinvar/7348 ^@ NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) http://identifiers.org/clinvar/7349 ^@ AP4M1, IVS14DS, G-T, +1 http://identifiers.org/clinvar/7350 ^@ NM_001099679.1(TRIM32):c.1459G>A (p.Asp487Asn) http://identifiers.org/clinvar/7351 ^@ NM_012210.3(TRIM32):c.388C>T (p.Pro130Ser) http://identifiers.org/clinvar/7352 ^@ TRIM32, 1-BP DEL, 1559C http://identifiers.org/clinvar/7353 ^@ NM_012210.3(TRIM32):c.1181G>A (p.Arg394His) http://identifiers.org/clinvar/7354 ^@ NM_006918.4(SC5D):c.86G>A (p.Arg29Gln) http://identifiers.org/clinvar/7355 ^@ NM_006918.4(SC5D):c.632G>A (p.Gly211Asp) http://identifiers.org/clinvar/7356 ^@ NM_006918.4(SC5D):c.137A>C (p.Tyr46Ser) http://identifiers.org/clinvar/7357 ^@ NM_003322.5(TULP1):c.1259G>C (p.Arg420Pro) http://identifiers.org/clinvar/7358 ^@ NM_003322.5(TULP1):c.1471T>C (p.Phe491Leu) http://identifiers.org/clinvar/7359 ^@ NM_003322.5(TULP1):c.1376T>A (p.Ile459Lys) http://identifiers.org/clinvar/7360 ^@ TULP1, IVS2DS, G-A, +1 http://identifiers.org/clinvar/7361 ^@ TULP1, IVS14DS, G-A, +1 http://identifiers.org/clinvar/7362 ^@ NM_003322.5(TULP1):c.1145T>C (p.Phe382Ser) http://identifiers.org/clinvar/7363 ^@ NM_003322.5(TULP1):c.1444C>T (p.Arg482Trp) http://identifiers.org/clinvar/7364 ^@ TULP1, 11-BP DEL, NT1511 http://identifiers.org/clinvar/7365 ^@ TULP1, IVS7DS, T-C, +2 http://identifiers.org/clinvar/7366 ^@ NM_004643.3(PABPN1):c.4_6GCG(6) (p.Ala2_Ala7=) http://identifiers.org/clinvar/7367 ^@ PABPN1, (GCG)n EXPANSION, (GCG)7 http://identifiers.org/clinvar/7368 ^@ NM_004643.3(PABPN1):c.35G>C (p.Gly12Ala) http://identifiers.org/clinvar/7369 ^@ NM_002098.5(GUCA1B):c.469G>A (p.Gly157Arg) http://identifiers.org/clinvar/7370 ^@ NM_001083962.1(TCF4):c.1738C>T (p.Arg580Trp) http://identifiers.org/clinvar/7371 ^@ NM_001083962.1(TCF4):c.1739G>A (p.Arg580Gln) http://identifiers.org/clinvar/7372 ^@ NM_001083962.1(TCF4):c.1153C>T (p.Arg385Ter) http://identifiers.org/clinvar/7373 ^@ TCF4, IVS9AS, G-C, -1 http://identifiers.org/clinvar/7374 ^@ NM_001083962.1(TCF4):c.1733G>C (p.Arg578Pro) http://identifiers.org/clinvar/7375 ^@ TCF4, 1-BP DEL, 908C http://identifiers.org/clinvar/7376 ^@ NM_005506.3(SCARB2):c.1239+1G>T http://identifiers.org/clinvar/7377 ^@ NM_005506.3(SCARB2):c.434_435dupAG (p.Trp146Serfs) http://identifiers.org/clinvar/7378 ^@ NM_005506.3(SCARB2):c.862C>T (p.Gln288Ter) http://identifiers.org/clinvar/7379 ^@ NM_005506.3(SCARB2):c.533G>A (p.Trp178Ter) http://identifiers.org/clinvar/7380 ^@ CD151, 1-BP INS, G383 http://identifiers.org/clinvar/7381 ^@ NM_172107.3(KCNQ2):c.851A>G (p.Tyr284Cys) http://identifiers.org/clinvar/7382 ^@ NM_172107.3(KCNQ2):c.916G>A (p.Ala306Thr) http://identifiers.org/clinvar/7384 ^@ KCNQ2, 1-BP DEL, 1846T http://identifiers.org/clinvar/7385 ^@ NM_172107.3(KCNQ2):c.640C>T (p.Arg214Trp) http://identifiers.org/clinvar/7386 ^@ NM_172107.3(KCNQ2):c.619C>T (p.Arg207Trp) http://identifiers.org/clinvar/7387 ^@ KCNQ2, 10-BP DEL/1-BP INS, NT761 http://identifiers.org/clinvar/7388 ^@ NM_172107.3(KCNQ2):c.1662G>T (p.Lys554Asn) http://identifiers.org/clinvar/7389 ^@ NM_172107.3(KCNQ2):c.740C>G (p.Ser247Trp) http://identifiers.org/clinvar/7390 ^@ NM_172107.3(KCNQ2):c.2127delT (p.Val710Serfs) http://identifiers.org/clinvar/7391 ^@ NM_172107.3(KCNQ2):c.620G>A (p.Arg207Gln) http://identifiers.org/clinvar/7392 ^@ NM_004519.3(KCNQ3):c.929G>T (p.Gly310Val) http://identifiers.org/clinvar/7393 ^@ NM_006941.3(SOX10):c.565G>T (p.Glu189Ter) http://identifiers.org/clinvar/7394 ^@ NM_006941.3(SOX10):c.249C>G (p.Tyr83Ter) http://identifiers.org/clinvar/7395 ^@ NM_006941.3(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu) http://identifiers.org/clinvar/7396 ^@ NM_006941.3(SOX10):c.1077_1078delGA (p.Glu359Aspfs) http://identifiers.org/clinvar/7397 ^@ NM_006941.3(SOX10):c.404G>C (p.Ser135Thr) http://identifiers.org/clinvar/7398 ^@ NM_006941.3(SOX10):c.939C>G (p.Tyr313Ter) http://identifiers.org/clinvar/7399 ^@ NM_006941.3(SOX10):c.752C>A (p.Ser251Ter) http://identifiers.org/clinvar/7400 ^@ NM_006941.3(SOX10):c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82) http://identifiers.org/clinvar/7401 ^@ NM_006941.3(SOX10):c.621C>G (p.Tyr207Ter) http://identifiers.org/clinvar/7402 ^@ NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) http://identifiers.org/clinvar/7403 ^@ NM_006941.3(SOX10):c.748C>T (p.Gln250Ter) http://identifiers.org/clinvar/7404 ^@ NM_006941.3(SOX10):c.698-740_1085del1128insCCT http://identifiers.org/clinvar/7405 ^@ NM_006941.3(SOX10):c.219_428+43del http://identifiers.org/clinvar/7406 ^@ NM_006941.3(SOX10):c.429-1112_697+396del http://identifiers.org/clinvar/7407 ^@ NM_006941.3(SOX10):c.506delC (p.Pro169Argfs) http://identifiers.org/clinvar/7408 ^@ NM_006941.3(SOX10):c.470C>T (p.Ala157Val) http://identifiers.org/clinvar/7409 ^@ NM_006941.3(SOX10):c.698-2A>C http://identifiers.org/clinvar/7410 ^@ NM_006941.3(SOX10):c.521A>C (p.Gln174Pro) http://identifiers.org/clinvar/7411 ^@ NM_006941.3(SOX10):c.797delG (p.Gly266Alafs) http://identifiers.org/clinvar/7412 ^@ NM_006941.3(SOX10):c.915delG (p.His306Thrfs) http://identifiers.org/clinvar/7413 ^@ NM_030756.4(TCF7L2):c.382-41435C>T http://identifiers.org/clinvar/7414 ^@ NM_030756.4(TCF7L2):c.483+9017G>T http://identifiers.org/clinvar/7415 ^@ NM_030756.4(TCF7L2):c.483+7162G>C http://identifiers.org/clinvar/7416 ^@ NM_000554.5(CRX):c.239A>C (p.Glu80Ala) http://identifiers.org/clinvar/7417 ^@ CRX, 1-BP DEL, 502G http://identifiers.org/clinvar/7418 ^@ NM_000554.5(CRX):c.121C>T (p.Arg41Trp) http://identifiers.org/clinvar/7419 ^@ CRX, 2-BP DEL, GLU168 http://identifiers.org/clinvar/7420 ^@ CRX, 1-BP DEL, GLY217 http://identifiers.org/clinvar/7421 ^@ NM_000554.5(CRX):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/7422 ^@ NM_000554.5(CRX):c.268C>T (p.Arg90Trp) http://identifiers.org/clinvar/7423 ^@ CRX, 1-BP DEL, 520G http://identifiers.org/clinvar/7424 ^@ CRX, 1-BP DEL, 615C http://identifiers.org/clinvar/7425 ^@ CRX, 3-BP DEL/2-BP INS, NT816 http://identifiers.org/clinvar/7426 ^@ SALL1, 1-BP DEL, 1268C http://identifiers.org/clinvar/7427 ^@ NM_002968.2(SALL1):c.1115C>A (p.Ser372Ter) http://identifiers.org/clinvar/7428 ^@ NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) http://identifiers.org/clinvar/7429 ^@ NM_002968.2(SALL1):c.1115C>G (p.Ser372Ter) http://identifiers.org/clinvar/7430 ^@ SALL1, 2-BP DEL, NT1277 http://identifiers.org/clinvar/7431 ^@ SALL1, 2-BP DEL, 1347CA http://identifiers.org/clinvar/7432 ^@ SALL1, 1-BP DEL, 1819G http://identifiers.org/clinvar/7433 ^@ SALL1, 2-BP DEL, 792GC http://identifiers.org/clinvar/7434 ^@ NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) http://identifiers.org/clinvar/7435 ^@ NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) http://identifiers.org/clinvar/7436 ^@ SALL1, 1-BP DEL, 995C http://identifiers.org/clinvar/7437 ^@ SALL1, 2-BP DEL, 3414AT http://identifiers.org/clinvar/7438 ^@ STK11, EX4-5DEL/EX6-7INV http://identifiers.org/clinvar/7439 ^@ NM_000455.4(STK11):c.759C>A (p.Tyr253Ter) http://identifiers.org/clinvar/7440 ^@ NM_000455.4(STK11):c.843delG (p.Leu282Serfs) http://identifiers.org/clinvar/7441 ^@ NM_000455.4(STK11):c.718_721delTCGG (p.Ser240Leufs) http://identifiers.org/clinvar/7442 ^@ NM_000455.4(STK11):c.465-1G>A http://identifiers.org/clinvar/7443 ^@ NM_000455.4(STK11):c.250A>T (p.Lys84Ter) http://identifiers.org/clinvar/7444 ^@ NM_000455.4(STK11):c.834_835delTG (p.Cys278Trpfs) http://identifiers.org/clinvar/7445 ^@ NM_000455.4(STK11):c.200T>C (p.Leu67Pro) http://identifiers.org/clinvar/7446 ^@ NM_000455.4(STK11):c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn) http://identifiers.org/clinvar/7447 ^@ NM_000455.4(STK11):c.169G>T (p.Glu57Ter) http://identifiers.org/clinvar/7448 ^@ NM_000455.4(STK11):c.488G>A (p.Gly163Asp) http://identifiers.org/clinvar/7449 ^@ NM_000455.4(STK11):c.418delC (p.Leu140Trpfs) http://identifiers.org/clinvar/7450 ^@ NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) http://identifiers.org/clinvar/7451 ^@ NM_000455.4(STK11):c.197dupT (p.Leu67Alafs) http://identifiers.org/clinvar/7452 ^@ NM_000455.4(STK11):c.108C>A (p.Tyr36Ter) http://identifiers.org/clinvar/7453 ^@ NM_000455.4(STK11):c.650delC (p.Pro217Argfs) http://identifiers.org/clinvar/7454 ^@ NM_000455.4(STK11):c.936delA (p.Lys312Asnfs) http://identifiers.org/clinvar/7455 ^@ NM_000455.4(STK11):c.508C>T (p.Gln170Ter) http://identifiers.org/clinvar/7456 ^@ NM_000455.4(STK11):c.145T>G (p.Tyr49Asp) http://identifiers.org/clinvar/7457 ^@ NM_000455.4(STK11):c.403G>C (p.Gly135Arg) http://identifiers.org/clinvar/7458 ^@ NM_000455.4(STK11):c.717G>C (p.Trp239Cys) http://identifiers.org/clinvar/7459 ^@ NM_000455.4(STK11):c.891delG (p.Arg297Serfs) http://identifiers.org/clinvar/7460 ^@ NM_000455.4(STK11):c.738C>G (p.Tyr246Ter) http://identifiers.org/clinvar/7461 ^@ NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) http://identifiers.org/clinvar/7462 ^@ NM_002241.4(KCNJ10):c.194G>C (p.Arg65Pro) http://identifiers.org/clinvar/7463 ^@ NM_002241.4(KCNJ10):c.595C>T (p.Arg199Ter) http://identifiers.org/clinvar/7464 ^@ NM_002241.4(KCNJ10):c.418T>C (p.Cys140Arg) http://identifiers.org/clinvar/7465 ^@ NM_002241.4(KCNJ10):c.491C>T (p.Thr164Ile) http://identifiers.org/clinvar/7466 ^@ NM_002241.4(KCNJ10):c.500C>T (p.Ala167Val) http://identifiers.org/clinvar/7467 ^@ NM_002241.4(KCNJ10):c.889C>T (p.Arg297Cys) http://identifiers.org/clinvar/7468 ^@ NM_002241.4(KCNJ10):c.229G>C (p.Gly77Arg) http://identifiers.org/clinvar/7469 ^@ NM_002241.4(KCNJ10):c.581C>A (p.Pro194His) http://identifiers.org/clinvar/7470 ^@ NM_002241.4(KCNJ10):c.1042C>T (p.Arg348Cys) http://identifiers.org/clinvar/7471 ^@ ECM1, 1-BP DEL, 1019A http://identifiers.org/clinvar/7472 ^@ NM_004425.3(ECM1):c.1036C>T (p.Gln346Ter) http://identifiers.org/clinvar/7473 ^@ ECM1, 1163-BP DEL http://identifiers.org/clinvar/7474 ^@ ECM1, 1-BP DEL, 507T http://identifiers.org/clinvar/7475 ^@ NM_004425.3(ECM1):c.157C>T (p.Arg53Ter) http://identifiers.org/clinvar/7476 ^@ NM_004425.3(ECM1):c.499T>A (p.Phe167Ile) http://identifiers.org/clinvar/7477 ^@ ECM1, TRP160TER http://identifiers.org/clinvar/7478 ^@ NM_001540.3(HSPB1):c.404C>T (p.Ser135Phe) http://identifiers.org/clinvar/7479 ^@ NM_001540.3(HSPB1):c.379C>T (p.Arg127Trp) http://identifiers.org/clinvar/7480 ^@ NM_001540.3(HSPB1):c.452C>T (p.Thr151Ile) http://identifiers.org/clinvar/7481 ^@ NM_001540.3(HSPB1):c.545C>T (p.Pro182Leu) http://identifiers.org/clinvar/7482 ^@ NM_001540.3(HSPB1):c.406C>T (p.Arg136Trp) http://identifiers.org/clinvar/7483 ^@ NM_001540.3(HSPB1):c.544C>T (p.Pro182Ser) http://identifiers.org/clinvar/7484 ^@ NM_001540.3(HSPB1):c.418C>G (p.Arg140Gly) http://identifiers.org/clinvar/7485 ^@ NM_001540.3(HSPB1):c.295C>A (p.Leu99Met) http://identifiers.org/clinvar/7486 ^@ NM_002775.4(HTRA1):c.-625G>A http://identifiers.org/clinvar/7487 ^@ NM_002775.4(HTRA1):c.1108C>T (p.Arg370Ter) http://identifiers.org/clinvar/7488 ^@ NM_002775.4(HTRA1):c.904C>T (p.Arg302Ter) http://identifiers.org/clinvar/7489 ^@ NM_002775.4(HTRA1):c.889G>A (p.Val297Met) http://identifiers.org/clinvar/7490 ^@ NM_002775.4(HTRA1):c.754G>A (p.Ala252Thr) http://identifiers.org/clinvar/7491 ^@ NM_001189.3(NKX3-2):c.337dupG (p.Ala113Glyfs) http://identifiers.org/clinvar/7492 ^@ NM_001189.3(NKX3-2):c.336_337delGGinsT (p.Ala113Profs) http://identifiers.org/clinvar/7493 ^@ NM_001189.3(NKX3-2):c.104_110delCGCCCGG (p.Ala35Glyfs) http://identifiers.org/clinvar/7494 ^@ MYD88, 3-BP DEL, 160GAG http://identifiers.org/clinvar/7495 ^@ NM_001172567.1(MYD88):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/7496 ^@ NM_001172567.1(MYD88):c.317T>C (p.Leu106Pro) http://identifiers.org/clinvar/7497 ^@ NM_003384.2(VRK1):c.1072C>T (p.Arg358Ter) http://identifiers.org/clinvar/7498 ^@ ESRRB, 7-BP DUP, NT1018 http://identifiers.org/clinvar/7499 ^@ NM_004452.3(ESRRB):c.329C>T (p.Ala110Val) http://identifiers.org/clinvar/7500 ^@ NM_004452.3(ESRRB):c.1024G>T (p.Val342Leu) http://identifiers.org/clinvar/7501 ^@ NM_002281.3(KRT81):c.1237G>A (p.Glu413Lys) http://identifiers.org/clinvar/7502 ^@ NM_002281.3(KRT81):c.1204G>A (p.Glu402Lys) http://identifiers.org/clinvar/7503 ^@ NG_012130.1:g.(?_5165)_(7623_?)del http://identifiers.org/clinvar/7504 ^@ NG_012130.1:g.(?_5165)_(7623_?)del http://identifiers.org/clinvar/7505 ^@ NM_002653.4(PITX1):c.388G>A (p.Glu130Lys) http://identifiers.org/clinvar/7506 ^@ LHX4, IVS4, G-C, -1 http://identifiers.org/clinvar/7507 ^@ NM_033343.3(LHX4):c.628G>C (p.Ala210Pro) http://identifiers.org/clinvar/7508 ^@ NM_033343.3(LHX4):c.250C>T (p.Arg84Cys) http://identifiers.org/clinvar/7509 ^@ NM_033343.3(LHX4):c.569T>G (p.Leu190Arg) http://identifiers.org/clinvar/7510 ^@ NM_033343.3(LHX4):c.1162C>A (p.Pro388Thr) http://identifiers.org/clinvar/7511 ^@ NM_002496.3(NDUFS8):c.236C>T (p.Pro79Leu) http://identifiers.org/clinvar/7512 ^@ NM_002496.3(NDUFS8):c.305G>A (p.Arg102His) http://identifiers.org/clinvar/7513 ^@ NM_002496.3(NDUFS8):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/7514 ^@ NM_002496.3(NDUFS8):c.413G>A (p.Arg138His) http://identifiers.org/clinvar/7515 ^@ NDUFA2, IVS2DS, G-A, +5 http://identifiers.org/clinvar/7516 ^@ NM_000466.2(PEX1):c.2528G>A (p.Gly843Asp) http://identifiers.org/clinvar/7517 ^@ NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro) http://identifiers.org/clinvar/7518 ^@ NM_000466.2(PEX1):c.1906_2064del159 (p.Arg636_Leu688del) http://identifiers.org/clinvar/7519 ^@ NM_000466.2(PEX1):c.2097dupT (p.Ile700Tyrfs) http://identifiers.org/clinvar/7520 ^@ PEX1, 1-BP DEL, 2916A http://identifiers.org/clinvar/7521 ^@ MYO9B, IVS28, G-A http://identifiers.org/clinvar/7522 ^@ NM_001303.3(COX10):c.612C>A (p.Asn204Lys) http://identifiers.org/clinvar/7523 ^@ NM_001303.3(COX10):c.587C>A (p.Thr196Lys) http://identifiers.org/clinvar/7524 ^@ NM_001303.3(COX10):c.674C>T (p.Pro225Leu) http://identifiers.org/clinvar/7525 ^@ NM_001303.3(COX10):c.1007A>T (p.Asp336Val) http://identifiers.org/clinvar/7526 ^@ NM_001303.3(COX10):c.1007A>G (p.Asp336Gly) http://identifiers.org/clinvar/7527 ^@ NM_001303.3(COX10):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/7528 ^@ DIAPH1, IVS17DS, G-T, +1 http://identifiers.org/clinvar/7529 ^@ NM_004465.1(FGF10):c.577C>T (p.Arg193Ter) http://identifiers.org/clinvar/7530 ^@ NC_000005.10:g.(44304226_44304232)_(44357318_44357323)del http://identifiers.org/clinvar/7531 ^@ NM_004465.1(FGF10):c.317G>T (p.Cys106Phe) http://identifiers.org/clinvar/7532 ^@ NM_004465.1(FGF10):c.467T>G (p.Ile156Arg) http://identifiers.org/clinvar/7533 ^@ NM_004465.1(FGF10):c.409A>T (p.Lys137Ter) http://identifiers.org/clinvar/7534 ^@ NM_004465.1(FGF10):c.240A>C (p.Arg80Ser) http://identifiers.org/clinvar/7535 ^@ NM_004465.1(FGF10):c.413G>A (p.Gly138Glu) http://identifiers.org/clinvar/7536 ^@ NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) http://identifiers.org/clinvar/7537 ^@ NM_003482.3(KMT2D):c.13579A>T (p.Lys4527Ter) http://identifiers.org/clinvar/7538 ^@ NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter) http://identifiers.org/clinvar/7539 ^@ NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) http://identifiers.org/clinvar/7540 ^@ NM_002381.4(MATN3):c.581T>A (p.Val194Asp) http://identifiers.org/clinvar/7541 ^@ NM_002381.4(MATN3):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/7542 ^@ NM_002381.4(MATN3):c.908C>T (p.Thr303Met) http://identifiers.org/clinvar/7543 ^@ NM_002381.4(MATN3):c.656C>A (p.Ala219Asp) http://identifiers.org/clinvar/7544 ^@ NM_002381.4(MATN3):c.910T>A (p.Cys304Ser) http://identifiers.org/clinvar/7545 ^@ NM_002381.4(MATN3):c.209G>A (p.Arg70His) http://identifiers.org/clinvar/7546 ^@ NM_002381.4(MATN3):c.382G>C (p.Ala128Pro) http://identifiers.org/clinvar/7547 ^@ NM_001122681.1(SH3BP2):c.1253C>T (p.Pro418Leu) http://identifiers.org/clinvar/7548 ^@ NM_001122681.1(SH3BP2):c.1253C>G (p.Pro418Arg) http://identifiers.org/clinvar/7549 ^@ NM_001122681.1(SH3BP2):c.1253C>A (p.Pro418His) http://identifiers.org/clinvar/7550 ^@ NM_001122681.1(SH3BP2):c.1244G>C (p.Arg415Pro) http://identifiers.org/clinvar/7551 ^@ NM_001122681.1(SH3BP2):c.1244G>A (p.Arg415Gln) http://identifiers.org/clinvar/7552 ^@ NM_001122681.1(SH3BP2):c.1258G>C (p.Gly420Arg) http://identifiers.org/clinvar/7553 ^@ NM_001122681.1(SH3BP2):c.1259G>A (p.Gly420Glu) http://identifiers.org/clinvar/7554 ^@ NM_000428.2(LTBP2):c.895C>T (p.Arg299Ter) http://identifiers.org/clinvar/7555 ^@ LTBP2, 1-BP DEL, 412G http://identifiers.org/clinvar/7556 ^@ LTBP2, 14-BP DEL, NT1243 http://identifiers.org/clinvar/7557 ^@ NM_000428.2(LTBP2):c.331C>T (p.Gln111Ter) http://identifiers.org/clinvar/7558 ^@ LTBP2, 1-BP INS, 5446C http://identifiers.org/clinvar/7559 ^@ LTBP2, 1-BP DEL, 1415C http://identifiers.org/clinvar/7560 ^@ LTBP2, 1-BP DEL, 5376C http://identifiers.org/clinvar/7561 ^@ NM_001130144.2(LTBP3):c.2322C>G (p.Tyr774Ter) http://identifiers.org/clinvar/7562 ^@ NM_006755.1(TALDO1):c.511_513delTCC (p.Ser171del) http://identifiers.org/clinvar/7563 ^@ NM_080647.1(TBX1):c.443T>A (p.Phe148Tyr) http://identifiers.org/clinvar/7564 ^@ NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) http://identifiers.org/clinvar/7565 ^@ TBX1, 1-BP DEL, 1223C http://identifiers.org/clinvar/7566 ^@ TBX1, 23-BP DEL, NT1320 http://identifiers.org/clinvar/7567 ^@ NM_080647.1(TBX1):c.582C>G (p.His194Gln) http://identifiers.org/clinvar/7568 ^@ TBX1, 30-BP DUP, NT1399 http://identifiers.org/clinvar/7569 ^@ NM_001300.5(KLF6):c.346T>C (p.Ser116Pro) http://identifiers.org/clinvar/7570 ^@ NM_001300.5(KLF6):c.410C>A (p.Ser137Ter) http://identifiers.org/clinvar/7571 ^@ NM_001300.5(KLF6):c.368C>A (p.Ala123Asp) http://identifiers.org/clinvar/7572 ^@ NM_001300.5(KLF6):c.190T>C (p.Trp64Arg) http://identifiers.org/clinvar/7573 ^@ NM_001300.5(KLF6):c.506T>C (p.Leu169Pro) http://identifiers.org/clinvar/7574 ^@ NM_001300.5(KLF6):c.465C>A (p.Ser155Arg) http://identifiers.org/clinvar/7575 ^@ NM_002872.4(RAC2):c.169G>A (p.Asp57Asn) http://identifiers.org/clinvar/7576 ^@ NM_003356.3(UCP3):c.304G>A (p.Val102Ile) http://identifiers.org/clinvar/7577 ^@ NM_003356.3(UCP3):c.427C>T (p.Arg143Ter) http://identifiers.org/clinvar/7578 ^@ UCP3, IVS6, G-A, +1 http://identifiers.org/clinvar/7579 ^@ NM_003356.3(UCP3):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/7580 ^@ NM_006214.3(PHYH):c.823C>T (p.Arg275Trp) http://identifiers.org/clinvar/7581 ^@ NM_006214.3(PHYH):c.135-2A>G http://identifiers.org/clinvar/7582 ^@ NM_006214.3(PHYH):c.85C>T (p.Pro29Ser) http://identifiers.org/clinvar/7583 ^@ NM_006214.3(PHYH):c.164delT (p.Leu55Argfs) http://identifiers.org/clinvar/7584 ^@ NM_006214.3(PHYH):c.805A>C (p.Asn269His) http://identifiers.org/clinvar/7585 ^@ PHYH, 3-BP INS, 576GCC http://identifiers.org/clinvar/7586 ^@ NM_006214.3(PHYH):c.526C>A (p.Gln176Lys) http://identifiers.org/clinvar/7587 ^@ NM_006214.3(PHYH):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/7588 ^@ NM_006214.3(PHYH):c.824G>A (p.Arg275Gln) http://identifiers.org/clinvar/7589 ^@ NM_004070.3(CLCNKA):c.240G>C (p.Trp80Cys) http://identifiers.org/clinvar/7590 ^@ NM_004070.3(CLCNKA):c.778C>T (p.Gln260Ter) http://identifiers.org/clinvar/7591 ^@ NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu) http://identifiers.org/clinvar/7592 ^@ NM_000085.4(CLCNKB):c.610G>A (p.Ala204Thr) http://identifiers.org/clinvar/7593 ^@ NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) http://identifiers.org/clinvar/7594 ^@ NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp) http://identifiers.org/clinvar/7595 ^@ NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His) http://identifiers.org/clinvar/7596 ^@ CLCNKB, DEL http://identifiers.org/clinvar/7597 ^@ CLCNKB, IVS7AS, A-G, -2 http://identifiers.org/clinvar/7598 ^@ CLCNKB, DEL http://identifiers.org/clinvar/7599 ^@ NM_000085.4(CLCNKB):c.1830G>A (p.Trp610Ter) http://identifiers.org/clinvar/7600 ^@ CLCNKB, IVS2AS, G-C, -1 http://identifiers.org/clinvar/7601 ^@ CLCNKB, IVS17DS, G-A, +1 http://identifiers.org/clinvar/7602 ^@ NM_016828.2(OGG1):c.137G>A (p.Arg46Gln) http://identifiers.org/clinvar/7603 ^@ NM_000299.3(PKP1):c.910C>T (p.Gln304Ter) http://identifiers.org/clinvar/7604 ^@ PKP1, 28-BP DUP, NT1132 http://identifiers.org/clinvar/7605 ^@ PKP1, IVS6, A-T, -2 http://identifiers.org/clinvar/7606 ^@ TAPBP, 7.4-KB DEL http://identifiers.org/clinvar/7607 ^@ NM_000726.4(CACNB4):c.1444C>T (p.Arg482Ter) http://identifiers.org/clinvar/7608 ^@ NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) http://identifiers.org/clinvar/7609 ^@ NM_001320198.1(KRT86):c.1237G>A (p.Glu413Lys) http://identifiers.org/clinvar/7610 ^@ NM_001320198.1(KRT86):c.1239G>T (p.Glu413Asp) http://identifiers.org/clinvar/7611 ^@ NM_001320198.1(KRT86):c.1204G>A (p.Glu402Lys) http://identifiers.org/clinvar/7612 ^@ NM_001320198.1(KRT86):c.340A>G (p.Asn114Asp) http://identifiers.org/clinvar/7613 ^@ NM_001320198.1(KRT86):c.1204G>C (p.Glu402Gln) http://identifiers.org/clinvar/7614 ^@ NM_001320198.1(KRT86):c.353C>A (p.Ala118Glu) http://identifiers.org/clinvar/7615 ^@ JAG1, 2-BP DEL, 3098GT http://identifiers.org/clinvar/7616 ^@ JAG1, IVS23DS, G-C, +1 http://identifiers.org/clinvar/7617 ^@ JAG1, 2-BP DEL, 1104AG http://identifiers.org/clinvar/7618 ^@ JAG1, 1-BP DEL, 2066C http://identifiers.org/clinvar/7619 ^@ NM_000214.2(JAG1):c.550C>T (p.Arg184Cys) http://identifiers.org/clinvar/7620 ^@ NM_000214.2(JAG1):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/7621 ^@ JAG1, 5-BP DEL http://identifiers.org/clinvar/7622 ^@ JAG1, 1-BP INS, 1618C http://identifiers.org/clinvar/7623 ^@ JAG1, 1-BP INS, 684G http://identifiers.org/clinvar/7624 ^@ NM_000214.2(JAG1):c.821G>A (p.Gly274Asp) http://identifiers.org/clinvar/7625 ^@ NM_000214.2(JAG1):c.110T>C (p.Leu37Ser) http://identifiers.org/clinvar/7626 ^@ NM_000214.2(JAG1):c.701G>A (p.Cys234Tyr) http://identifiers.org/clinvar/7627 ^@ JAG1, 2-BP DEL, 1485CT http://identifiers.org/clinvar/7628 ^@ JAG1, 1329, T-G, +2 http://identifiers.org/clinvar/7629 ^@ SUMO1, DEL http://identifiers.org/clinvar/7630 ^@ NM_003394.3(WNT10B):c.994C>T (p.Arg332Trp) http://identifiers.org/clinvar/7631 ^@ nsv513778 http://identifiers.org/clinvar/7632 ^@ NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) http://identifiers.org/clinvar/7633 ^@ NM_198407.2(GHSR):c.6G>A (p.Trp2Ter) http://identifiers.org/clinvar/7634 ^@ NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) http://identifiers.org/clinvar/7635 ^@ NM_013435.2(RAX):c.439C>T (p.Gln147Ter) http://identifiers.org/clinvar/7636 ^@ NM_013435.2(RAX):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/7637 ^@ RAX, 1-BP DEL, 664T http://identifiers.org/clinvar/7638 ^@ NM_013435.2(RAX):c.909C>G (p.Tyr303Ter) http://identifiers.org/clinvar/7639 ^@ NM_003240.4(LEFTY2):c.940C>T (p.Arg314Ter) http://identifiers.org/clinvar/7640 ^@ NM_003240.4(LEFTY2):c.1025G>A (p.Ser342Asn) http://identifiers.org/clinvar/7641 ^@ NM_000935.2(PLOD2):c.1823C>T (p.Thr608Ile) http://identifiers.org/clinvar/7642 ^@ NM_000935.2(PLOD2):c.1802G>T (p.Gly601Val) http://identifiers.org/clinvar/7643 ^@ NM_000935.2(PLOD2):c.1793G>A (p.Arg598His) http://identifiers.org/clinvar/7644 ^@ RFX5, IVS2DS, G-A, +5 http://identifiers.org/clinvar/7645 ^@ RFX5, 1032C-T http://identifiers.org/clinvar/7646 ^@ RFX5, IVS4AS, G-A, -1 http://identifiers.org/clinvar/7647 ^@ RFX5, 4-BP DEL, IVS-AS, G-A, -1 http://identifiers.org/clinvar/7648 ^@ NM_000449.3(RFX5):c.446G>A (p.Arg149Gln) http://identifiers.org/clinvar/7649 ^@ RFXAP, 1-BP INS, 413G http://identifiers.org/clinvar/7650 ^@ RFXAP, 1-BP INS, 505G http://identifiers.org/clinvar/7651 ^@ RFXAP, 1-BP DEL, 484G http://identifiers.org/clinvar/7652 ^@ NM_000538.3(RFXAP):c.163C>T (p.Gln55Ter) http://identifiers.org/clinvar/7653 ^@ NM_000414.3(HSD17B4):c.1210_1261del52 (p.Val404Glufs) http://identifiers.org/clinvar/7654 ^@ NM_000414.3(HSD17B4):c.973_1209del237 (p.Ala325_Lys403del) http://identifiers.org/clinvar/7655 ^@ NM_000414.3(HSD17B4):c.46G>A (p.Gly16Ser) http://identifiers.org/clinvar/7656 ^@ NM_000414.3(HSD17B4):c.1369A>T (p.Asn457Tyr) http://identifiers.org/clinvar/7657 ^@ NM_000414.3(HSD17B4):c.317G>C (p.Arg106Pro) http://identifiers.org/clinvar/7658 ^@ HSD17B4, 138-BP DEL http://identifiers.org/clinvar/7659 ^@ HSD17B4, 2-BP DEL, 422AG http://identifiers.org/clinvar/7660 ^@ NM_032387.4(WNK4):c.1693C>G (p.Gln565Glu) http://identifiers.org/clinvar/7661 ^@ NM_032387.4(WNK4):c.1684G>A (p.Glu562Lys) http://identifiers.org/clinvar/7662 ^@ NM_032387.4(WNK4):c.1691A>C (p.Asp564Ala) http://identifiers.org/clinvar/7663 ^@ NM_032387.4(WNK4):c.3553C>T (p.Arg1185Cys) http://identifiers.org/clinvar/7664 ^@ NM_000453.2(SLC5A5):c.1060A>C (p.Thr354Pro) http://identifiers.org/clinvar/7665 ^@ NM_000453.2(SLC5A5):c.816C>A (p.Cys272Ter) http://identifiers.org/clinvar/7666 ^@ NM_000453.2(SLC5A5):c.799C>G (p.Gln267Glu) http://identifiers.org/clinvar/7667 ^@ NM_000453.2(SLC5A5):c.1593C>G (p.Tyr531Ter) http://identifiers.org/clinvar/7668 ^@ NM_000453.2(SLC5A5):c.277G>C (p.Gly93Arg) http://identifiers.org/clinvar/7669 ^@ NM_000453.2(SLC5A5):c.1628G>A (p.Gly543Glu) http://identifiers.org/clinvar/7670 ^@ NM_000453.2(SLC5A5):c.1183G>A (p.Gly395Arg) http://identifiers.org/clinvar/7671 ^@ SLC5A5, EX3-7DEL http://identifiers.org/clinvar/7672 ^@ NM_002312.3(LIG4):c.1738C>T (p.Arg580Ter) http://identifiers.org/clinvar/7673 ^@ NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) http://identifiers.org/clinvar/7674 ^@ NM_002312.3(LIG4):c.1406G>A (p.Gly469Glu) http://identifiers.org/clinvar/7675 ^@ NM_002312.3(LIG4):c.833G>A (p.Arg278His) http://identifiers.org/clinvar/7676 ^@ NM_002312.3(LIG4):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/7677 ^@ NM_002312.3(LIG4):c.26C>T (p.Thr9Ile) http://identifiers.org/clinvar/7678 ^@ NM_002312.3(LIG4):c.1298_1300delAAC (p.Gln433del) http://identifiers.org/clinvar/7679 ^@ NR4A2, 1-BP DEL, -291T http://identifiers.org/clinvar/7680 ^@ NR4A2, -245T-G http://identifiers.org/clinvar/7681 ^@ NM_024407.4(NDUFS7):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/7682 ^@ NM_024407.4(NDUFS7):c.434G>A (p.Arg145His) http://identifiers.org/clinvar/7683 ^@ NDUFS7, IVS1AS, C-G, -1167 http://identifiers.org/clinvar/7684 ^@ NM_021603.3(FXYD2):c.115G>A (p.Gly39Arg) http://identifiers.org/clinvar/7685 ^@ NM_002299.2(LCT):c.-13907C>T http://identifiers.org/clinvar/7686 ^@ NM_005915.5(MCM6):c.1362+117G>A http://identifiers.org/clinvar/7687 ^@ NM_005915.5(MCM6):c.1917+226G>C http://identifiers.org/clinvar/7688 ^@ NM_005915.5(MCM6):c.1917+321T>G http://identifiers.org/clinvar/7689 ^@ NM_005915.5(MCM6):c.1917+329C>G http://identifiers.org/clinvar/7690 ^@ MCM6, EX17, T/C http://identifiers.org/clinvar/7691 ^@ NM_003865.2(HESX1):c.478C>T (p.Arg160Cys) http://identifiers.org/clinvar/7692 ^@ NM_003865.2(HESX1):c.509C>T (p.Ser170Leu) http://identifiers.org/clinvar/7693 ^@ NM_003865.2(HESX1):c.541A>G (p.Thr181Ala) http://identifiers.org/clinvar/7694 ^@ HESX1, 2-BP INS, 306AG http://identifiers.org/clinvar/7695 ^@ NM_003865.2(HESX1):c.77T>C (p.Ile26Thr) http://identifiers.org/clinvar/7696 ^@ HESX1, 1-BP DEL, 1684G http://identifiers.org/clinvar/7697 ^@ NM_003865.2(HESX1):c.450_451delCA (p.Asp150Glufs) http://identifiers.org/clinvar/7698 ^@ NM_003865.2(HESX1):c.357+2T>C http://identifiers.org/clinvar/7699 ^@ NM_003865.2(HESX1):c.445G>A (p.Glu149Lys) http://identifiers.org/clinvar/7700 ^@ NM_003865.2(HESX1):c.18G>C (p.Gln6His) http://identifiers.org/clinvar/7701 ^@ NM_004565.2(PEX14):c.553C>T (p.Gln185Ter) http://identifiers.org/clinvar/7702 ^@ PEX14, 41-KB DEL http://identifiers.org/clinvar/7703 ^@ NM_002618.3(PEX13):c.702G>A (p.Trp234Ter) http://identifiers.org/clinvar/7704 ^@ NM_002618.3(PEX13):c.977T>C (p.Ile326Thr) http://identifiers.org/clinvar/7705 ^@ NM_005259.2(MSTN):c.373+5G>A http://identifiers.org/clinvar/7706 ^@ NM_000303.2(PMM2):c.422G>A (p.Arg141His) http://identifiers.org/clinvar/7707 ^@ NM_000303.2(PMM2):c.647A>T (p.Asn216Ile) http://identifiers.org/clinvar/7708 ^@ NM_000303.2(PMM2):c.385G>A (p.Val129Met) http://identifiers.org/clinvar/7709 ^@ NM_000303.2(PMM2):c.484C>T (p.Arg162Trp) http://identifiers.org/clinvar/7710 ^@ NM_000303.2(PMM2):c.193G>T (p.Asp65Tyr) http://identifiers.org/clinvar/7711 ^@ NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) http://identifiers.org/clinvar/7712 ^@ NM_000303.2(PMM2):c.563A>G (p.Asp188Gly) http://identifiers.org/clinvar/7713 ^@ NM_000303.2(PMM2):c.349G>C (p.Gly117Arg) http://identifiers.org/clinvar/7714 ^@ NM_000303.2(PMM2):c.669C>G (p.Asp223Glu) http://identifiers.org/clinvar/7715 ^@ PMM2, 357C-A http://identifiers.org/clinvar/7716 ^@ NM_000303.2(PMM2):c.710C>G (p.Thr237Arg) http://identifiers.org/clinvar/7717 ^@ NM_000303.2(PMM2):c.722G>C (p.Cys241Ser) http://identifiers.org/clinvar/7718 ^@ NM_000303.2(PMM2):c.395T>C (p.Ile132Thr) http://identifiers.org/clinvar/7719 ^@ NM_000303.2(PMM2):c.691G>A (p.Val231Met) http://identifiers.org/clinvar/7720 ^@ NM_000303.2(PMM2):c.26G>A (p.Cys9Tyr) http://identifiers.org/clinvar/7721 ^@ NM_000303.2(PMM2):c.95T>G (p.Leu32Arg) http://identifiers.org/clinvar/7722 ^@ NM_000303.2(PMM2):c.677C>G (p.Thr226Ser) http://identifiers.org/clinvar/7723 ^@ NM_000303.2(PMM2):c.338C>T (p.Pro113Leu) http://identifiers.org/clinvar/7724 ^@ PMM2, IVS7, C-T http://identifiers.org/clinvar/7725 ^@ NM_000303.2(PMM2):c.131T>C (p.Val44Ala) http://identifiers.org/clinvar/7726 ^@ PMM2, 28-KB DEL http://identifiers.org/clinvar/7727 ^@ PMM2, IVS3AS, G-C, -1 http://identifiers.org/clinvar/7728 ^@ CYP1B1, 13-BP DEL, NT1410 http://identifiers.org/clinvar/7729 ^@ CYP1B1, 1-BP INS, 1209C http://identifiers.org/clinvar/7730 ^@ NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) http://identifiers.org/clinvar/7731 ^@ CYP1B1, 10-BP DUP, NT1546 http://identifiers.org/clinvar/7732 ^@ NM_000104.3(CYP1B1):c.1093G>T (p.Gly365Trp) http://identifiers.org/clinvar/7733 ^@ NM_000104.3(CYP1B1):c.1405C>T (p.Arg469Trp) http://identifiers.org/clinvar/7734 ^@ NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn) http://identifiers.org/clinvar/7735 ^@ NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) http://identifiers.org/clinvar/7736 ^@ NM_000104.3(CYP1B1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/7737 ^@ NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) http://identifiers.org/clinvar/7738 ^@ CYP1B1, 1-BP DEL, 4339G http://identifiers.org/clinvar/7739 ^@ NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) http://identifiers.org/clinvar/7740 ^@ NM_000104.3(CYP1B1):c.694G>C (p.Gly232Arg) http://identifiers.org/clinvar/7742 ^@ CYP1B1, 1-BP DEL, 3979A http://identifiers.org/clinvar/7743 ^@ NM_000104.3(CYP1B1):c.1267A>T (p.Asn423Tyr) http://identifiers.org/clinvar/7744 ^@ NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) http://identifiers.org/clinvar/7745 ^@ NM_001017535.1(VDR):c.98G>A (p.Gly33Asp) http://identifiers.org/clinvar/7746 ^@ NM_001017535.1(VDR):c.218G>A (p.Arg73Gln) http://identifiers.org/clinvar/7747 ^@ NM_001017535.1(VDR):c.885C>A (p.Tyr295Ter) http://identifiers.org/clinvar/7748 ^@ NM_001017535.1(VDR):c.985G>A (p.Glu329Lys) http://identifiers.org/clinvar/7749 ^@ NM_001017535.1(VDR):c.239G>A (p.Arg80Gln) http://identifiers.org/clinvar/7750 ^@ NM_001017535.1(VDR):c.149G>A (p.Arg50Gln) http://identifiers.org/clinvar/7751 ^@ NM_001017535.1(VDR):c.454C>T (p.Gln152Ter) http://identifiers.org/clinvar/7752 ^@ NM_001017535.1(VDR):c.821G>T (p.Arg274Leu) http://identifiers.org/clinvar/7753 ^@ NM_001017535.1(VDR):c.137G>A (p.Gly46Asp) http://identifiers.org/clinvar/7754 ^@ NM_001017535.1(VDR):c.915C>G (p.His305Gln) http://identifiers.org/clinvar/7755 ^@ NM_001017535.1(VDR):c.941T>G (p.Ile314Ser) http://identifiers.org/clinvar/7756 ^@ NM_001017535.1(VDR):c.1171C>T (p.Arg391Cys) http://identifiers.org/clinvar/7757 ^@ NM_001017535.1(VDR):c.88C>T (p.Arg30Ter) http://identifiers.org/clinvar/7758 ^@ VDR, 1-BP DEL, 366C http://identifiers.org/clinvar/7759 ^@ NM_001017535.1(VDR):c.1036G>A (p.Val346Met) http://identifiers.org/clinvar/7760 ^@ NM_001228.4(CASP8):c.793C>T (p.Arg265Trp) http://identifiers.org/clinvar/7761 ^@ NM_001228.4(CASP8):c.1279_1280delGT (p.Val427Phefs) http://identifiers.org/clinvar/7762 ^@ NM_001228.4(CASP8):c.904G>C (p.Asp302His) http://identifiers.org/clinvar/7763 ^@ CASP8, 6-BP DEL, NT-652 http://identifiers.org/clinvar/7764 ^@ NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) http://identifiers.org/clinvar/7765 ^@ NM_032977.3(CASP10):c.1241C>T (p.Ala414Val) http://identifiers.org/clinvar/7766 ^@ NM_032977.3(CASP10):c.769C>T (p.Gln257Ter) http://identifiers.org/clinvar/7767 ^@ NM_032977.3(CASP10):c.1042_1043insA (p.Gly348Glufs) http://identifiers.org/clinvar/7768 ^@ NM_032977.3(CASP10):c.440T>C (p.Met147Thr) http://identifiers.org/clinvar/7769 ^@ NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu) http://identifiers.org/clinvar/7770 ^@ PEX12, 4-BP INS, 733GCCT http://identifiers.org/clinvar/7771 ^@ PEX12, 1-BP INS, 744T http://identifiers.org/clinvar/7772 ^@ PEX12, 4-BP DEL, 684TAGT http://identifiers.org/clinvar/7773 ^@ NM_000286.2(PEX12):c.691A>T (p.Lys231Ter) http://identifiers.org/clinvar/7774 ^@ NM_000286.2(PEX12):c.538C>T (p.Arg180Ter) http://identifiers.org/clinvar/7775 ^@ NM_000286.2(PEX12):c.959C>T (p.Ser320Phe) http://identifiers.org/clinvar/7776 ^@ PEX12, 2-BP DEL, 26CA http://identifiers.org/clinvar/7777 ^@ PEX12, IVS1DS, G-T, +1 http://identifiers.org/clinvar/7778 ^@ NM_000286.2(PEX12):c.273A>T (p.Arg91Ser) http://identifiers.org/clinvar/7779 ^@ NM_000286.2(PEX12):c.949C>T (p.Leu317Phe) http://identifiers.org/clinvar/7780 ^@ NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) http://identifiers.org/clinvar/7781 ^@ NM_000288.3(PEX7):c.653C>T (p.Ala218Val) http://identifiers.org/clinvar/7782 ^@ NM_000288.3(PEX7):c.649G>A (p.Gly217Arg) http://identifiers.org/clinvar/7783 ^@ NM_000288.3(PEX7):c.694C>T (p.Arg232Ter) http://identifiers.org/clinvar/7784 ^@ NM_000288.3(PEX7):c.45_52dupGGGACGCC (p.His18Argfs) http://identifiers.org/clinvar/7785 ^@ NM_000288.3(PEX7):c.903+1G>C http://identifiers.org/clinvar/7786 ^@ NM_000288.3(PEX7):c.345T>G (p.Tyr115Ter) http://identifiers.org/clinvar/7787 ^@ NM_000288.3(PEX7):c.340-10A>G http://identifiers.org/clinvar/7788 ^@ NM_000288.3(PEX7):c.120C>G (p.Tyr40Ter) http://identifiers.org/clinvar/7790 ^@ NM_000288.3(PEX7):c.40A>C (p.Thr14Pro) http://identifiers.org/clinvar/7791 ^@ NM_004482.3(GALNT3):c.1524+1G>A http://identifiers.org/clinvar/7792 ^@ NM_004482.3(GALNT3):c.484C>T (p.Arg162Ter) http://identifiers.org/clinvar/7793 ^@ NM_004482.3(GALNT3):c.1524+5G>A http://identifiers.org/clinvar/7794 ^@ NM_004482.3(GALNT3):c.516_688del http://identifiers.org/clinvar/7795 ^@ NM_004482.3(GALNT3):c.1774C>T (p.Gln592Ter) http://identifiers.org/clinvar/7796 ^@ NM_004482.3(GALNT3):c.1076C>A (p.Thr359Lys) http://identifiers.org/clinvar/7797 ^@ NM_004482.3(GALNT3):c.966T>G (p.Tyr322Ter) http://identifiers.org/clinvar/7798 ^@ NM_004482.3(GALNT3):c.1441C>T (p.Gln481Ter) http://identifiers.org/clinvar/7799 ^@ NM_004482.3(GALNT3):c.815C>A (p.Thr272Lys) http://identifiers.org/clinvar/7800 ^@ NM_004482.3(GALNT3):c.803dupC (p.Thr269Asnfs) http://identifiers.org/clinvar/7801 ^@ NM_004482.3(GALNT3):c.1525_1626del http://identifiers.org/clinvar/7802 ^@ NM_004482.3(GALNT3):c.677delC (p.Ala226Valfs) http://identifiers.org/clinvar/7803 ^@ NM_004482.3(GALNT3):c.1720T>G (p.Cys574Gly) http://identifiers.org/clinvar/7804 ^@ NM_053274.2(GLMN):c.736-2886_1214+254delinsGG http://identifiers.org/clinvar/7805 ^@ GLMN, 5-BP DEL, 980CAGAA http://identifiers.org/clinvar/7806 ^@ NM_053274.2(GLMN):c.157_161delAAGAA (p.Lys53Terfs) http://identifiers.org/clinvar/7807 ^@ NM_053274.2(GLMN):c.1179_1181delCAA (p.Asn393del) http://identifiers.org/clinvar/7808 ^@ NM_003999.2(OSMR):c.2072T>C (p.Ile691Thr) http://identifiers.org/clinvar/7809 ^@ NM_003999.2(OSMR):c.1853G>C (p.Gly618Ala) http://identifiers.org/clinvar/7810 ^@ NM_004044.6(ATIC):c.1277A>G (p.Lys426Arg) http://identifiers.org/clinvar/7811 ^@ ATIC, 125-129DUP, 130-132DEL http://identifiers.org/clinvar/7812 ^@ NM_000314.6(PTEN):c.386G>A (p.Gly129Glu) http://identifiers.org/clinvar/7813 ^@ NM_000314.6(PTEN):c.697C>T (p.Arg233Ter) http://identifiers.org/clinvar/7814 ^@ NM_000314.6(PTEN):c.469G>T (p.Glu157Ter) http://identifiers.org/clinvar/7815 ^@ NM_000314.6(PTEN):c.510T>A (p.Ser170Arg) http://identifiers.org/clinvar/7816 ^@ NM_000314.6(PTEN):c.368A>G (p.His123Arg) http://identifiers.org/clinvar/7817 ^@ NM_000314.6(PTEN):c.370T>C (p.Cys124Arg) http://identifiers.org/clinvar/7818 ^@ NM_000314.6(PTEN):c.347_351delACAAT (p.Asp116Alafs) http://identifiers.org/clinvar/7819 ^@ NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) http://identifiers.org/clinvar/7820 ^@ NM_000314.6(PTEN):c.253+1G>A http://identifiers.org/clinvar/7821 ^@ NM_000314.6(PTEN):c.492+2T>G http://identifiers.org/clinvar/7822 ^@ NM_000314.6(PTEN):c.696delA (p.Arg233Aspfs) http://identifiers.org/clinvar/7823 ^@ NM_000314.6(PTEN):c.586delC (p.His196Thrfs) http://identifiers.org/clinvar/7824 ^@ NM_000314.6(PTEN):c.534_535delTAinsAT (p.Tyr178Ter) http://identifiers.org/clinvar/7825 ^@ NM_000314.6(PTEN):c.104T>G (p.Met35Arg) http://identifiers.org/clinvar/7826 ^@ NM_000314.6(PTEN):c.209T>C (p.Leu70Pro) http://identifiers.org/clinvar/7827 ^@ NM_000314.6(PTEN):c.640C>T (p.Gln214Ter) http://identifiers.org/clinvar/7828 ^@ NM_000314.6(PTEN):c.766G>T (p.Glu256Ter) http://identifiers.org/clinvar/7829 ^@ NM_000314.6(PTEN):c.389G>A (p.Arg130Gln) http://identifiers.org/clinvar/7830 ^@ NM_000314.6(PTEN):c.761_765delAAGTA (p.Lys254Argfs) http://identifiers.org/clinvar/7831 ^@ NM_000314.6(PTEN):c.564T>A (p.Tyr188Ter) http://identifiers.org/clinvar/7832 ^@ NM_000314.6(PTEN):c.335T>C (p.Leu112Pro) http://identifiers.org/clinvar/7833 ^@ NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) http://identifiers.org/clinvar/7834 ^@ NM_000314.6(PTEN):c.40dupA (p.Arg14Lysfs) http://identifiers.org/clinvar/7835 ^@ PTEN, CYS124SER http://identifiers.org/clinvar/7836 ^@ NM_000314.6(PTEN):c.633C>A (p.Cys211Ter) http://identifiers.org/clinvar/7837 ^@ NM_000314.6(PTEN):c.55G>A (p.Asp19Asn) http://identifiers.org/clinvar/7838 ^@ NM_000314.6(PTEN):c.649G>A (p.Val217Ile) http://identifiers.org/clinvar/7839 ^@ NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) http://identifiers.org/clinvar/7840 ^@ NM_000314.6(PTEN):c.701G>A (p.Arg234Gln) http://identifiers.org/clinvar/7841 ^@ NM_000314.6(PTEN):c.181C>G (p.His61Asp) http://identifiers.org/clinvar/7842 ^@ NM_000314.6(PTEN):c.362C>G (p.Ala121Gly) http://identifiers.org/clinvar/7843 ^@ NM_000314.6(PTEN):c.507delC (p.Ser170Valfs) http://identifiers.org/clinvar/7844 ^@ NM_000314.6(PTEN):c.-764G>A http://identifiers.org/clinvar/7845 ^@ NM_000314.6(PTEN):c.-861G>T http://identifiers.org/clinvar/7846 ^@ PTEN, DEL http://identifiers.org/clinvar/7847 ^@ PTEN, 1-BP DEL, 179G http://identifiers.org/clinvar/7848 ^@ NM_000314.6(PTEN):c.278A>G (p.His93Arg) http://identifiers.org/clinvar/7849 ^@ NM_000314.6(PTEN):c.755A>G (p.Asp252Gly) http://identifiers.org/clinvar/7850 ^@ NM_000314.6(PTEN):c.722T>C (p.Phe241Ser) http://identifiers.org/clinvar/7851 ^@ PTEN, 1-BP INS, 519T http://identifiers.org/clinvar/7852 ^@ NM_000314.6(PTEN):c.395G>T (p.Gly132Val) http://identifiers.org/clinvar/7853 ^@ NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu) http://identifiers.org/clinvar/7854 ^@ NM_002500.4(NEUROD1):c.616dupC (p.His206Profs) http://identifiers.org/clinvar/7855 ^@ NM_018488.3(TBX4):c.743G>T (p.Gly248Val) http://identifiers.org/clinvar/7856 ^@ NM_018488.3(TBX4):c.184C>T (p.Gln62Ter) http://identifiers.org/clinvar/7857 ^@ NM_018488.3(TBX4):c.1592A>G (p.Gln531Arg) http://identifiers.org/clinvar/7858 ^@ NM_006949.3(STXBP2):c.1430C>T (p.Pro477Leu) http://identifiers.org/clinvar/7859 ^@ STXBP2, 3-BP DEL, 693GAT http://identifiers.org/clinvar/7860 ^@ STXBP2, IVS14AS, G-C, -1 http://identifiers.org/clinvar/7861 ^@ NM_006949.3(STXBP2):c.626T>C (p.Leu209Pro) http://identifiers.org/clinvar/7862 ^@ STXBP2, 1-BP DEL, 260T http://identifiers.org/clinvar/7863 ^@ STXBP2, 1-BP DEL, 706G http://identifiers.org/clinvar/7864 ^@ PTGIS, IVS9, T-C, +2 http://identifiers.org/clinvar/7865 ^@ NM_003355.2(UCP2):c.-1245G>A http://identifiers.org/clinvar/7866 ^@ NM_000358.2(TGFBI):c.1663C>T (p.Arg555Trp) http://identifiers.org/clinvar/7867 ^@ NM_000358.2(TGFBI):c.1664G>A (p.Arg555Gln) http://identifiers.org/clinvar/7868 ^@ NM_000358.2(TGFBI):c.370C>T (p.Arg124Cys) http://identifiers.org/clinvar/7869 ^@ NM_000358.2(TGFBI):c.371G>A (p.Arg124His) http://identifiers.org/clinvar/7870 ^@ TGFBI, 3-BP DEL http://identifiers.org/clinvar/7871 ^@ NM_000358.2(TGFBI):c.1501C>A (p.Pro501Thr) http://identifiers.org/clinvar/7872 ^@ NM_000358.2(TGFBI):c.371G>T (p.Arg124Leu) http://identifiers.org/clinvar/7873 ^@ NM_000358.2(TGFBI):c.370C>A (p.Arg124Ser) http://identifiers.org/clinvar/242802 ^@ NM_000358.2(TGFBI):c.1637C>A (p.Ala546Asp) http://identifiers.org/clinvar/7875 ^@ NM_000358.2(TGFBI):c.1619T>C (p.Phe540Ser) http://identifiers.org/clinvar/7876 ^@ NM_000358.2(TGFBI):c.1868G>A (p.Gly623Asp) http://identifiers.org/clinvar/7877 ^@ NM_000358.2(TGFBI):c.1526T>G (p.Leu509Arg) http://identifiers.org/clinvar/7878 ^@ NM_000358.2(TGFBI):c.1998G>C (p.Arg666Ser) http://identifiers.org/clinvar/7879 ^@ NM_000350.2(ABCA4):c.2588G>C (p.Gly863Ala) http://identifiers.org/clinvar/7880 ^@ NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) http://identifiers.org/clinvar/7881 ^@ NM_000350.2(ABCA4):c.3083C>T (p.Ala1028Val) http://identifiers.org/clinvar/7882 ^@ NM_000350.2(ABCA4):c.6079C>T (p.Leu2027Phe) http://identifiers.org/clinvar/7883 ^@ NM_000350.2(ABCA4):c.2565G>A (p.Trp855Ter) http://identifiers.org/clinvar/7884 ^@ NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) http://identifiers.org/clinvar/7885 ^@ NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) http://identifiers.org/clinvar/7886 ^@ NM_000350.2(ABCA4):c.3106G>A (p.Glu1036Lys) http://identifiers.org/clinvar/7887 ^@ NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) http://identifiers.org/clinvar/7888 ^@ NM_000350.2(ABCA4):c.5882G>A (p.Gly1961Glu) http://identifiers.org/clinvar/7889 ^@ NM_000350.2(ABCA4):c.1848delA (p.Glu616Aspfs) http://identifiers.org/clinvar/7891 ^@ ABCA4, IVS40DS, G-A, +5 http://identifiers.org/clinvar/7892 ^@ NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) http://identifiers.org/clinvar/7893 ^@ NM_000350.2(ABCA4):c.5912T>G (p.Leu1971Arg) http://identifiers.org/clinvar/7894 ^@ NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) http://identifiers.org/clinvar/7896 ^@ NM_000350.2(ABCA4):c.1018T>G (p.Tyr340Asp) http://identifiers.org/clinvar/7897 ^@ ABCA4, IVS5AS, A-G, -2 http://identifiers.org/clinvar/7898 ^@ NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) http://identifiers.org/clinvar/7899 ^@ NM_000350.2(ABCA4):c.52C>T (p.Arg18Trp) http://identifiers.org/clinvar/7900 ^@ NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) http://identifiers.org/clinvar/99067 ^@ NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) http://identifiers.org/clinvar/7902 ^@ NM_000350.2(ABCA4):c.2616_2617delCT (p.Phe873Serfs) http://identifiers.org/clinvar/7903 ^@ NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) http://identifiers.org/clinvar/7904 ^@ NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) http://identifiers.org/clinvar/7905 ^@ NM_000350.2(ABCA4):c.2888delG (p.Gly963Alafs) http://identifiers.org/clinvar/7906 ^@ NM_000350.2(ABCA4):c.1225delA (p.Arg409Glyfs) http://identifiers.org/clinvar/7907 ^@ NM_000350.2(ABCA4):c.6088C>T (p.Arg2030Ter) http://identifiers.org/clinvar/7909 ^@ NM_000350.2(ABCA4):c.5285C>A (p.Ala1762Asp) http://identifiers.org/clinvar/7910 ^@ NM_000350.2(ABCA4):c.3539_3554del16 (p.Ser1181Profs) http://identifiers.org/clinvar/7911 ^@ NM_000350.2(ABCA4):c.5819T>C (p.Leu1940Pro) http://identifiers.org/clinvar/7912 ^@ NM_000350.2(ABCA4):c.5338C>G (p.Pro1780Ala) http://identifiers.org/clinvar/7913 ^@ NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) http://identifiers.org/clinvar/7914 ^@ NM_001168357.1(PLA2G7):c.835G>T (p.Val279Phe) http://identifiers.org/clinvar/7915 ^@ NM_001168357.1(PLA2G7):c.593T>C (p.Ile198Thr) http://identifiers.org/clinvar/7916 ^@ NM_001168357.1(PLA2G7):c.1136T>C (p.Val379Ala) http://identifiers.org/clinvar/7917 ^@ NM_000860.5(HPGD):c.418G>C (p.Ala140Pro) http://identifiers.org/clinvar/7918 ^@ NM_000860.5(HPGD):c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs) http://identifiers.org/clinvar/7919 ^@ NM_000860.5(HPGD):c.175_176delCT (p.Leu59Valfs) http://identifiers.org/clinvar/7920 ^@ NM_000860.5(HPGD):c.577T>C (p.Ser193Pro) http://identifiers.org/clinvar/7921 ^@ NM_000223.3(KRT12):c.404G>C (p.Arg135Thr) http://identifiers.org/clinvar/7922 ^@ NM_000223.3(KRT12):c.427G>C (p.Val143Leu) http://identifiers.org/clinvar/7923 ^@ NM_000223.3(KRT12):c.403A>G (p.Arg135Gly) http://identifiers.org/clinvar/7924 ^@ NM_000223.3(KRT12):c.404G>T (p.Arg135Ile) http://identifiers.org/clinvar/7925 ^@ NM_000223.3(KRT12):c.1285T>G (p.Tyr429Asp) http://identifiers.org/clinvar/7926 ^@ NM_000223.3(KRT12):c.419T>G (p.Leu140Arg) http://identifiers.org/clinvar/7927 ^@ NM_000223.3(KRT12):c.386T>C (p.Met129Thr) http://identifiers.org/clinvar/7928 ^@ NM_014014.4(SNRNP200):c.3260C>T (p.Ser1087Leu) http://identifiers.org/clinvar/7929 ^@ NM_000503.5(EYA1):c.922C>T (p.Arg308Ter) http://identifiers.org/clinvar/7930 ^@ EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC http://identifiers.org/clinvar/7931 ^@ EYA1, 2-BP INS, 870GT http://identifiers.org/clinvar/7932 ^@ EYA1, 8-BP DEL, NT297 http://identifiers.org/clinvar/7933 ^@ EYA1, ALU INS, EX10 http://identifiers.org/clinvar/7934 ^@ NM_000503.5(EYA1):c.1695_1698delAAAG (p.Lys565Asnfs) http://identifiers.org/clinvar/7935 ^@ NM_000503.5(EYA1):c.1319G>A (p.Arg440Gln) http://identifiers.org/clinvar/7936 ^@ NM_000503.5(EYA1):c.1639A>G (p.Arg547Gly) http://identifiers.org/clinvar/7937 ^@ NM_000503.5(EYA1):c.1087G>A (p.Glu363Lys) http://identifiers.org/clinvar/7938 ^@ NM_000503.5(EYA1):c.1276G>A (p.Gly426Ser) http://identifiers.org/clinvar/7939 ^@ EYA1, 1-BP INS, 387T http://identifiers.org/clinvar/7940 ^@ NM_000503.5(EYA1):c.1459T>C (p.Ser487Pro) http://identifiers.org/clinvar/7941 ^@ NM_000503.5(EYA1):c.1514T>G (p.Leu505Arg) http://identifiers.org/clinvar/7942 ^@ NM_000503.5(EYA1):c.639+1G>A http://identifiers.org/clinvar/7943 ^@ NM_000503.5(EYA1):c.1081C>T (p.Arg361Ter) http://identifiers.org/clinvar/7944 ^@ NM_172060.3(EYA1):c.1402_1408delACAACTA (p.Thr468Leufs) http://identifiers.org/clinvar/7945 ^@ NM_172060.3(EYA1):c.867+5G>A http://identifiers.org/clinvar/7946 ^@ NM_000261.1(MYOC):c.1309T>C (p.Tyr437His) http://identifiers.org/clinvar/7947 ^@ NM_000261.1(MYOC):c.1091G>T (p.Gly364Val) http://identifiers.org/clinvar/7948 ^@ NM_000261.1(MYOC):c.1109C>T (p.Pro370Leu) http://identifiers.org/clinvar/7949 ^@ NM_000261.1(MYOC):c.1102C>T (p.Gln368Ter) http://identifiers.org/clinvar/7950 ^@ NM_000261.1(MYOC):c.1430T>G (p.Ile477Ser) http://identifiers.org/clinvar/7951 ^@ NM_000261.1(MYOC):c.1440C>A (p.Asn480Lys) http://identifiers.org/clinvar/7952 ^@ NM_000261.1(MYOC):c.1099G>A (p.Gly367Arg) http://identifiers.org/clinvar/7953 ^@ NM_000261.1(MYOC):c.1010A>G (p.Gln337Arg) http://identifiers.org/clinvar/7954 ^@ NM_000261.1(MYOC):c.1267A>G (p.Lys423Glu) http://identifiers.org/clinvar/7955 ^@ NM_000261.1(MYOC):c.136C>T (p.Arg46Ter) http://identifiers.org/clinvar/7956 ^@ NM_000261.1(MYOC):c.1297T>C (p.Cys433Arg) http://identifiers.org/clinvar/7957 ^@ NM_000261.1(MYOC):c.1196G>T (p.Gly399Val) http://identifiers.org/clinvar/7958 ^@ NM_000261.1(MYOC):c.144G>T (p.Gln48His) http://identifiers.org/clinvar/7959 ^@ NM_000261.1(MYOC):c.734G>A (p.Cys245Tyr) http://identifiers.org/clinvar/7960 ^@ NM_000261.1(MYOC):c.754G>A (p.Gly252Arg) http://identifiers.org/clinvar/7961 ^@ NM_000261.1(MYOC):c.1138G>C (p.Asp380His) http://identifiers.org/clinvar/7962 ^@ NM_017411.3(SMN2):c.859G>C (p.Gly287Arg) http://identifiers.org/clinvar/7963 ^@ UBE3A, 5-BP DUP http://identifiers.org/clinvar/7964 ^@ UBE3A, IVS9, A-G, -8 http://identifiers.org/clinvar/7965 ^@ UBE3A, 2-BP DEL, 1344GT http://identifiers.org/clinvar/7966 ^@ NM_130838.1(UBE3A):c.1249C>T (p.Arg417Ter) http://identifiers.org/clinvar/7967 ^@ NM_130838.1(UBE3A):c.2304G>A (p.Trp768Ter) http://identifiers.org/clinvar/7968 ^@ NM_130838.1(UBE3A):c.316A>C (p.Thr106Pro) http://identifiers.org/clinvar/7969 ^@ NM_130838.1(UBE3A):c.389T>C (p.Ile130Thr) http://identifiers.org/clinvar/7970 ^@ UBE3A, 4-BP DEL, 3093AAGA http://identifiers.org/clinvar/7971 ^@ UBE3A, 2-BP DEL, 1930AG http://identifiers.org/clinvar/7972 ^@ UBE3A, 4-BP DUP, EX10, GAGG http://identifiers.org/clinvar/7973 ^@ NM_000474.3(TWIST1):c.308dupA (p.Tyr103Terfs) http://identifiers.org/clinvar/7974 ^@ NM_000474.3(TWIST1):c.356A>C (p.Gln119Pro) http://identifiers.org/clinvar/7975 ^@ NM_000474.3(TWIST1):c.309C>A (p.Tyr103Ter) http://identifiers.org/clinvar/7976 ^@ NM_000474.3(TWIST1):c.368C>A (p.Ser123Ter) http://identifiers.org/clinvar/7977 ^@ NM_000474.3(TWIST1):c.376G>T (p.Glu126Ter) http://identifiers.org/clinvar/7978 ^@ NM_000474.3(TWIST1):c.392T>C (p.Leu131Pro) http://identifiers.org/clinvar/7979 ^@ TWIST1, 21-BP DUP http://identifiers.org/clinvar/7980 ^@ NM_000474.3(TWIST1):c.541G>T (p.Glu181Ter) http://identifiers.org/clinvar/7981 ^@ TWIST1, 1-BP INS, 460A http://identifiers.org/clinvar/7982 ^@ NM_000474.3(TWIST1):c.466A>G (p.Ile156Val) http://identifiers.org/clinvar/7983 ^@ NM_000474.3(TWIST1):c.82C>T (p.Gln28Ter) http://identifiers.org/clinvar/7984 ^@ NM_000474.3(TWIST1):c.211C>T (p.Gln71Ter) http://identifiers.org/clinvar/7985 ^@ NM_000474.3(TWIST1):c.556G>A (p.Ala186Thr) http://identifiers.org/clinvar/7986 ^@ NM_000474.3(TWIST1):c.563C>T (p.Ser188Leu) http://identifiers.org/clinvar/7987 ^@ TBX3, 1-BP DEL, 227T http://identifiers.org/clinvar/7988 ^@ TBX3, IVS2DS, G-C, +1 http://identifiers.org/clinvar/7989 ^@ NM_016569.3(TBX3):c.877A>T (p.Lys293Ter) http://identifiers.org/clinvar/7990 ^@ TBX3, 1-BP INS, 88A http://identifiers.org/clinvar/7991 ^@ TBX5, 1491C-T http://identifiers.org/clinvar/7992 ^@ NM_000192.3(TBX5):c.205G>T (p.Glu69Ter) http://identifiers.org/clinvar/7993 ^@ NM_000192.3(TBX5):c.710G>A (p.Arg237Gln) http://identifiers.org/clinvar/7994 ^@ NM_000192.3(TBX5):c.238G>A (p.Gly80Arg) http://identifiers.org/clinvar/7995 ^@ NM_000192.3(TBX5):c.709C>T (p.Arg237Trp) http://identifiers.org/clinvar/7996 ^@ TBX5, 1-BP DEL, 416C http://identifiers.org/clinvar/7997 ^@ NM_000192.3(TBX5):c.145C>A (p.Gln49Lys) http://identifiers.org/clinvar/7998 ^@ NM_000192.3(TBX5):c.161T>C (p.Ile54Thr) http://identifiers.org/clinvar/7999 ^@ NM_000192.3(TBX5):c.408C>A (p.Tyr136Ter) http://identifiers.org/clinvar/8000 ^@ NM_018419.2(SOX18):c.310G>C (p.Ala104Pro) http://identifiers.org/clinvar/8001 ^@ NM_018419.2(SOX18):c.283T>A (p.Trp95Arg) http://identifiers.org/clinvar/8002 ^@ NM_018419.2(SOX18):c.720C>A (p.Cys240Ter) http://identifiers.org/clinvar/8003 ^@ NM_002905.3(RDH5):c.712G>T (p.Gly238Trp) http://identifiers.org/clinvar/8004 ^@ NM_002905.3(RDH5):c.218C>T (p.Ser73Phe) http://identifiers.org/clinvar/8005 ^@ NM_002905.3(RDH5):c.839G>A (p.Arg280His) http://identifiers.org/clinvar/8006 ^@ NM_002905.3(RDH5):c.880G>C (p.Ala294Pro) http://identifiers.org/clinvar/8007 ^@ NM_002905.3(RDH5):c.530T>G (p.Val177Gly) http://identifiers.org/clinvar/8008 ^@ NM_002905.3(RDH5):c.841T>C (p.Tyr281His) http://identifiers.org/clinvar/8009 ^@ NM_002905.3(RDH5):c.928delCinsGAAG (p.Leu310delinsGluVal) http://identifiers.org/clinvar/8010 ^@ NM_002905.3(RDH5):c.469C>T (p.Arg157Trp) http://identifiers.org/clinvar/8011 ^@ NM_001089.2(ABCA3):c.3426G>A (p.Trp1142Ter) http://identifiers.org/clinvar/8012 ^@ NM_001089.2(ABCA3):c.302T>C (p.Leu101Pro) http://identifiers.org/clinvar/8013 ^@ NM_001089.2(ABCA3):c.4658T>C (p.Leu1553Pro) http://identifiers.org/clinvar/8014 ^@ NM_001089.2(ABCA3):c.4772A>C (p.Gln1591Pro) http://identifiers.org/clinvar/8015 ^@ NM_001089.2(ABCA3):c.1702A>G (p.Asn568Asp) http://identifiers.org/clinvar/8016 ^@ ABCA3, 4909, G-A, +1 http://identifiers.org/clinvar/8017 ^@ NM_001089.2(ABCA3):c.977T>C (p.Leu326Pro) http://identifiers.org/clinvar/8018 ^@ NM_005327.4(HADH):c.118G>A (p.Ala40Thr) http://identifiers.org/clinvar/8019 ^@ NM_005327.4(HADH):c.171C>A (p.Asp57Glu) http://identifiers.org/clinvar/8020 ^@ NM_005327.4(HADH):c.773C>T (p.Pro258Leu) http://identifiers.org/clinvar/8021 ^@ HADH, 6-BP DEL http://identifiers.org/clinvar/8022 ^@ NM_003073.4(SMARCB1):c.951delA (p.Gln318Serfs) http://identifiers.org/clinvar/8023 ^@ SMARCB1, 19-BP DEL http://identifiers.org/clinvar/8024 ^@ NM_003073.4(SMARCB1):c.591delG (p.Gln198Argfs) http://identifiers.org/clinvar/8025 ^@ SMARCB1, IVS7DS, G-A, +1 http://identifiers.org/clinvar/8026 ^@ NM_003073.4(SMARCB1):c.34C>T (p.Gln12Ter) http://identifiers.org/clinvar/8027 ^@ NM_003073.4(SMARCB1):c.544C>T (p.Gln182Ter) http://identifiers.org/clinvar/8028 ^@ NM_003073.4(SMARCB1):c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs) http://identifiers.org/clinvar/8029 ^@ SMARCB1, 7-BP DEL, NT233 http://identifiers.org/clinvar/8030 ^@ NM_003073.4(SMARCB1):c.629-361_795+2103dup http://identifiers.org/clinvar/8031 ^@ NM_003073.4(SMARCB1):c.92A>T (p.Glu31Val) http://identifiers.org/clinvar/8032 ^@ NM_005535.2(IL12RB1):c.94C>T (p.Gln32Ter) http://identifiers.org/clinvar/8033 ^@ NM_005535.2(IL12RB1):c.1126C>T (p.Gln376Ter) http://identifiers.org/clinvar/8034 ^@ IL12RB1, 409-549DEL http://identifiers.org/clinvar/8035 ^@ NM_005535.2(IL12RB1):c.637C>T (p.Arg213Trp) http://identifiers.org/clinvar/8036 ^@ NM_005535.2(IL12RB1):c.700+362_1619-944del http://identifiers.org/clinvar/8037 ^@ NM_005535.2(IL12RB1):c.1021+1G>C http://identifiers.org/clinvar/8038 ^@ NM_005535.2(IL12RB1):c.592T>C (p.Cys198Arg) http://identifiers.org/clinvar/8039 ^@ NM_003221.3(TFAP2B):c.824C>A (p.Ala275Asp) http://identifiers.org/clinvar/8040 ^@ NM_003221.3(TFAP2B):c.898C>T (p.Arg300Cys) http://identifiers.org/clinvar/8041 ^@ NM_003221.3(TFAP2B):c.706C>T (p.Arg236Cys) http://identifiers.org/clinvar/8042 ^@ NM_003221.3(TFAP2B):c.706C>A (p.Arg236Ser) http://identifiers.org/clinvar/8043 ^@ NM_003221.3(TFAP2B):c.854G>A (p.Arg285Gln) http://identifiers.org/clinvar/8044 ^@ NM_003221.3(TFAP2B):c.218C>G (p.Pro73Arg) http://identifiers.org/clinvar/8045 ^@ NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser) http://identifiers.org/clinvar/8046 ^@ NM_005055.4(RAPSN):c.264C>A (p.Asn88Lys) http://identifiers.org/clinvar/8047 ^@ NM_005055.4(RAPSN):c.41T>C (p.Leu14Pro) http://identifiers.org/clinvar/8048 ^@ NM_005055.4(RAPSN):c.549_553dupGTTCT (p.Phe185Cysfs) http://identifiers.org/clinvar/8049 ^@ RAPSN, 1-BP INS, 46C http://identifiers.org/clinvar/8050 ^@ NM_005055.4(RAPSN):c.807C>A (p.Tyr269Ter) http://identifiers.org/clinvar/8051 ^@ NM_005055.4(RAPSN):c.-210A>G http://identifiers.org/clinvar/8052 ^@ NM_005055.4(RAPSN):c.848T>C (p.Leu283Pro) http://identifiers.org/clinvar/8053 ^@ NM_005055.4(RAPSN):c.193-15C>A http://identifiers.org/clinvar/8054 ^@ NM_005055.4(RAPSN):c.490C>T (p.Arg164Cys) http://identifiers.org/clinvar/8055 ^@ NM_005055.4(RAPSN):c.133G>A (p.Val45Met) http://identifiers.org/clinvar/8056 ^@ NM_005055.4(RAPSN):c.484G>A (p.Glu162Lys) http://identifiers.org/clinvar/8057 ^@ RAPSN, 2-BP DEL, 1177AA http://identifiers.org/clinvar/8058 ^@ NM_005055.4(RAPSN):c.416T>C (p.Phe139Ser) http://identifiers.org/clinvar/8059 ^@ NM_005055.4(RAPSN):c.566C>T (p.Ala189Val) http://identifiers.org/clinvar/8060 ^@ NM_004625.3(WNT7A):c.874C>T (p.Arg292Cys) http://identifiers.org/clinvar/8061 ^@ NM_004625.3(WNT7A):c.325G>A (p.Ala109Thr) http://identifiers.org/clinvar/8062 ^@ NM_005570.3(LMAN1):c.89dupG (p.Asp31Argfs) http://identifiers.org/clinvar/8063 ^@ NM_005570.3(LMAN1):c.1149+2T>C http://identifiers.org/clinvar/8064 ^@ NM_005570.3(LMAN1):c.796delC (p.Gln266Serfs) http://identifiers.org/clinvar/8065 ^@ NM_005570.3(LMAN1):c.1356delC (p.Leu453Terfs) http://identifiers.org/clinvar/8066 ^@ NM_005570.3(LMAN1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/8067 ^@ NM_198217.2(ING1):c.512G>C (p.Cys171Ser) http://identifiers.org/clinvar/8068 ^@ NM_198217.2(ING1):c.515A>G (p.Asn172Ser) http://identifiers.org/clinvar/8069 ^@ NM_198217.2(ING1):c.443C>A (p.Ala148Asp) http://identifiers.org/clinvar/8070 ^@ NM_002770.3(PRSS2):c.571G>A (p.Gly191Arg) http://identifiers.org/clinvar/8071 ^@ NM_000332.3(ATXN1):c.589_591CAG(36_38) (p.Gln208_His209insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/8072 ^@ NM_001039348.2(EFEMP1):c.1033C>T (p.Arg345Trp) http://identifiers.org/clinvar/8073 ^@ NM_000430.3(PAFAH1B1):c.446A>G (p.His149Arg) http://identifiers.org/clinvar/8074 ^@ NM_000430.3(PAFAH1B1):c.817C>T (p.Arg273Ter) http://identifiers.org/clinvar/8075 ^@ PAFAH1B1, 22-BP DEL http://identifiers.org/clinvar/8076 ^@ NM_000430.3(PAFAH1B1):c.505T>C (p.Ser169Pro) http://identifiers.org/clinvar/8077 ^@ NM_000430.3(PAFAH1B1):c.949G>C (p.Asp317His) http://identifiers.org/clinvar/8078 ^@ NM_000430.3(PAFAH1B1):c.92T>C (p.Phe31Ser) http://identifiers.org/clinvar/8079 ^@ NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser) http://identifiers.org/clinvar/8080 ^@ NM_000430.3(PAFAH1B1):c.722G>C (p.Arg241Pro) http://identifiers.org/clinvar/8081 ^@ NM_000430.3(PAFAH1B1):c.22C>T (p.Arg8Ter) http://identifiers.org/clinvar/8082 ^@ NM_000430.3(PAFAH1B1):c.830A>C (p.His277Pro) http://identifiers.org/clinvar/8083 ^@ NM_153427.2(PITX2):c.161T>A (p.Leu54Gln) http://identifiers.org/clinvar/8084 ^@ PITX2, IVS3DS, G-C, +5 http://identifiers.org/clinvar/8085 ^@ NM_153427.2(PITX2):c.202A>C (p.Thr68Pro) http://identifiers.org/clinvar/8086 ^@ PITX2, IVS3AS, A-G, -11 http://identifiers.org/clinvar/8087 ^@ NM_153427.2(PITX2):c.272G>C (p.Arg91Pro) http://identifiers.org/clinvar/8088 ^@ NM_153427.2(PITX2):c.399G>A (p.Trp133Ter) http://identifiers.org/clinvar/8089 ^@ NM_153427.2(PITX2):c.250C>T (p.Arg84Trp) http://identifiers.org/clinvar/8090 ^@ NM_153426.2(PITX2):c.344G>A (p.Arg115His) http://identifiers.org/clinvar/8091 ^@ PITX2, IVS3AS, A-T, -2 http://identifiers.org/clinvar/8092 ^@ NM_153427.2(PITX2):c.247G>C (p.Val83Leu) http://identifiers.org/clinvar/8093 ^@ PITX2, 21-BP DUP, NT713 http://identifiers.org/clinvar/8094 ^@ NM_153427.2(PITX2):c.185G>A (p.Arg62His) http://identifiers.org/clinvar/8095 ^@ NM_006261.4(PROP1):c.358C>T (p.Arg120Cys) http://identifiers.org/clinvar/8096 ^@ NM_006261.4(PROP1):c.349T>A (p.Phe117Ile) http://identifiers.org/clinvar/8097 ^@ NM_006261.4(PROP1):c.150_151delAG (p.Gly52Glufs) http://identifiers.org/clinvar/8098 ^@ NM_006261.4(PROP1):c.301_302delAG (p.Leu102Cysfs) http://identifiers.org/clinvar/8100 ^@ NM_006261.4(PROP1):c.263T>C (p.Phe88Ser) http://identifiers.org/clinvar/8101 ^@ NM_006261.4(PROP1):c.112_124delTCGAGTGCTCCAC (p.Ser38Profs) http://identifiers.org/clinvar/8102 ^@ NM_006261.4(PROP1):c.150delA (p.Arg53Aspfs) http://identifiers.org/clinvar/8103 ^@ NM_006261.4(PROP1):c.218G>A (p.Arg73His) http://identifiers.org/clinvar/8104 ^@ NM_006261.4(PROP1):c.217C>T (p.Arg73Cys) http://identifiers.org/clinvar/8105 ^@ NM_006261.4(PROP1):c.295C>T (p.Arg99Ter) http://identifiers.org/clinvar/8106 ^@ NM_006261.4(PROP1):c.296G>A (p.Arg99Gln) http://identifiers.org/clinvar/8107 ^@ NM_006261.4(PROP1):c.582G>A (p.Trp194Ter) http://identifiers.org/clinvar/8108 ^@ NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu) http://identifiers.org/clinvar/8109 ^@ NM_003900.4(SQSTM1):c.1224dupT (p.Glu409Terfs) http://identifiers.org/clinvar/8110 ^@ NM_003900.4(SQSTM1):c.970_1165del http://identifiers.org/clinvar/8111 ^@ NM_006982.2(ALX1):c.531+1G>A http://identifiers.org/clinvar/8112 ^@ NM_001276.2(CHI3L1):c.-131C>G http://identifiers.org/clinvar/8113 ^@ NM_002973.3(ATXN2):c.496_498CAG(15_24) (p.Gln188_Pro189insGlnGln) http://identifiers.org/clinvar/8114 ^@ ATXN2, (CAG)n EXPANSION, INTERMEDIATE http://identifiers.org/clinvar/8115 ^@ NM_175929.2(FGF14):c.449T>C (p.Phe150Ser) http://identifiers.org/clinvar/8116 ^@ NM_175929.2(FGF14):c.502delA (p.Arg168Aspfs) http://identifiers.org/clinvar/8117 ^@ NM_005631.4(SMO):c.1604G>T (p.Trp535Leu) http://identifiers.org/clinvar/8118 ^@ NM_005631.4(SMO):c.1685G>A (p.Arg562Gln) http://identifiers.org/clinvar/8119 ^@ PEX6, IVSAS, G-A, -1, 8-BP DEL http://identifiers.org/clinvar/8120 ^@ PEX6, 20-BP DEL/1-BP INS http://identifiers.org/clinvar/8121 ^@ PEX6, 1-BP INS, NT511 http://identifiers.org/clinvar/8122 ^@ PEX6, IVS3DS, G-A, +1 http://identifiers.org/clinvar/8123 ^@ PEX6, IVS7, G-A, +1 http://identifiers.org/clinvar/8124 ^@ PEX6, 1-BP DEL, 1301C http://identifiers.org/clinvar/8125 ^@ NM_000287.3(PEX6):c.619_882del264 (p.Val207_Gln294del) http://identifiers.org/clinvar/8126 ^@ PEX6, 269-BP DEL/21-BP INS http://identifiers.org/clinvar/8127 ^@ NM_004970.2(IGFALS):c.103delG (p.Glu35Lysfs) http://identifiers.org/clinvar/8128 ^@ NM_004970.2(IGFALS):c.1618T>C (p.Cys540Arg) http://identifiers.org/clinvar/8129 ^@ NM_004970.2(IGFALS):c.583_591dupAGCCTGCGC (p.Arg197_Glu198insSerLeuArg) http://identifiers.org/clinvar/8130 ^@ NM_138712.3(PPARG):c.254C>A (p.Pro85Gln) http://identifiers.org/clinvar/8131 ^@ NM_138712.3(PPARG):c.34C>G (p.Pro12Ala) http://identifiers.org/clinvar/8132 ^@ NM_138712.3(PPARG):c.472delA (p.Ser158Valfs) http://identifiers.org/clinvar/8133 ^@ NM_138712.3(PPARG):c.857A>C (p.Gln286Pro) http://identifiers.org/clinvar/8134 ^@ NM_138712.3(PPARG):c.955A>T (p.Lys319Ter) http://identifiers.org/clinvar/8135 ^@ NM_138712.3(PPARG):c.863G>A (p.Arg288His) http://identifiers.org/clinvar/8136 ^@ NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) http://identifiers.org/clinvar/8137 ^@ NM_138712.3(PPARG):c.868G>A (p.Val290Met) http://identifiers.org/clinvar/8138 ^@ PPARG, 161C-T http://identifiers.org/clinvar/8139 ^@ NM_015869.4(PPARG):c.1431C>T (p.His477=) http://identifiers.org/clinvar/8140 ^@ PPARG, 3-BP DEL/1-BP INS, NT553 http://identifiers.org/clinvar/8141 ^@ NM_138712.3(PPARG):c.1080T>A (p.Phe360Leu) http://identifiers.org/clinvar/8142 ^@ NM_138712.3(PPARG):c.1189C>T (p.Arg397Cys) http://identifiers.org/clinvar/8143 ^@ NM_138712.3(PPARG):c.484T>A (p.Cys162Ser) http://identifiers.org/clinvar/8144 ^@ NM_138712.3(PPARG):c.496C>T (p.Arg166Trp) http://identifiers.org/clinvar/8145 ^@ NM_001351.3(DAZL):c.160A>G (p.Thr54Ala) http://identifiers.org/clinvar/8146 ^@ NM_005379.3(MYO1A):c.277C>T (p.Arg93Ter) http://identifiers.org/clinvar/8147 ^@ NM_005379.3(MYO1A):c.347_349dupCTT (p.Ser116_Tyr117insSer) http://identifiers.org/clinvar/8148 ^@ NM_005379.3(MYO1A):c.916G>A (p.Val306Met) http://identifiers.org/clinvar/8149 ^@ NM_005379.3(MYO1A):c.1155G>T (p.Glu385Asp) http://identifiers.org/clinvar/8150 ^@ NM_005379.3(MYO1A):c.1985G>A (p.Gly662Glu) http://identifiers.org/clinvar/8151 ^@ NM_005379.3(MYO1A):c.2728T>C (p.Ser910Pro) http://identifiers.org/clinvar/242801 ^@ NM_001171174.1(CX3CR1):c.841G>A (p.Val281Ile) http://identifiers.org/clinvar/8153 ^@ NM_080916.2(DGUOK):c.255delA (p.Ala86Profs) http://identifiers.org/clinvar/8154 ^@ NM_080916.2(DGUOK):c.313C>T (p.Arg105Ter) http://identifiers.org/clinvar/8155 ^@ NM_080916.2(DGUOK):c.763_766dupGATT (p.Phe256Terfs) http://identifiers.org/clinvar/8156 ^@ NM_080916.2(DGUOK):c.609_610delGT (p.Tyr204Profs) http://identifiers.org/clinvar/8157 ^@ NM_080916.2(DGUOK):c.425G>A (p.Arg142Lys) http://identifiers.org/clinvar/8158 ^@ NM_080916.2(DGUOK):c.679G>A (p.Glu227Lys) http://identifiers.org/clinvar/8159 ^@ NM_080916.2(DGUOK):c.763G>T (p.Asp255Tyr) http://identifiers.org/clinvar/8160 ^@ NM_138638.4(CFL2):c.103G>A (p.Ala35Thr) http://identifiers.org/clinvar/8161 ^@ ABCC9, 3-BP DEL, 4-BP INS, EX38 http://identifiers.org/clinvar/8162 ^@ NM_020297.3(ABCC9):c.4537G>A (p.Ala1513Thr) http://identifiers.org/clinvar/8163 ^@ NM_000436.3(OXCT1):c.848C>G (p.Ser283Ter) http://identifiers.org/clinvar/8164 ^@ NM_000436.3(OXCT1):c.1367G>T (p.Cys456Phe) http://identifiers.org/clinvar/242800 ^@ NM_000436.3(OXCT1):c.173C>T (p.Thr58Met) http://identifiers.org/clinvar/8166 ^@ NM_000436.3(OXCT1):c.971G>A (p.Gly324Glu) http://identifiers.org/clinvar/8167 ^@ NM_000436.3(OXCT1):c.656G>A (p.Gly219Glu) http://identifiers.org/clinvar/8168 ^@ NM_000436.3(OXCT1):c.661G>A (p.Val221Met) http://identifiers.org/clinvar/8169 ^@ NM_001130089.1(KARS):c.398T>A (p.Leu133His) http://identifiers.org/clinvar/8170 ^@ NM_001130089.1(KARS):c.514_515dupTT (p.Tyr173Serfs) http://identifiers.org/clinvar/8171 ^@ SGCD, 1-BP DEL, 656C http://identifiers.org/clinvar/8172 ^@ NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) http://identifiers.org/clinvar/8173 ^@ NM_000337.5(SGCD):c.89G>A (p.Trp30Ter) http://identifiers.org/clinvar/8174 ^@ NM_000337.5(SGCD):c.784G>A (p.Glu262Lys) http://identifiers.org/clinvar/8175 ^@ SGCD, 3-BP DEL, 710AGA/711GAA http://identifiers.org/clinvar/8176 ^@ NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) http://identifiers.org/clinvar/8177 ^@ NM_000337.5(SGCD):c.391G>C (p.Ala131Pro) http://identifiers.org/clinvar/8178 ^@ NM_007272.2(CTRC):c.760C>T (p.Arg254Trp) http://identifiers.org/clinvar/8179 ^@ CTRC, 24-BP DEL, NT738 http://identifiers.org/clinvar/8180 ^@ NM_007272.2(CTRC):c.164G>A (p.Trp55Ter) http://identifiers.org/clinvar/8181 ^@ NM_003181.3(T):c.1034+79C>T http://identifiers.org/clinvar/8182 ^@ TSG101, VAL-ALA, 1162T-C http://identifiers.org/clinvar/8183 ^@ TUSC3, 1-BP INS, 787C http://identifiers.org/clinvar/8184 ^@ NM_000579.3(CCR5):c.554_585del32 (p.Ser185Ilefs) http://identifiers.org/clinvar/8185 ^@ NM_000579.3(CCR5):c.894delC (p.Phe299Leufs) http://identifiers.org/clinvar/8186 ^@ NM_000579.3(CCR5):c.668G>A (p.Arg223Gln) http://identifiers.org/clinvar/8187 ^@ NM_000579.3(CCR5):c.1004C>T (p.Ala335Val) http://identifiers.org/clinvar/8188 ^@ NM_000579.3(CCR5):c.303T>A (p.Cys101Ter) http://identifiers.org/clinvar/8189 ^@ NM_000579.3(CCR5):c.-301+246A>G http://identifiers.org/clinvar/8190 ^@ NM_000579.3(CCR5):c.-229C>T http://identifiers.org/clinvar/8191 ^@ NM_000579.3(CCR5):c.180G>T (p.Arg60Ser) http://identifiers.org/clinvar/8193 ^@ NM_006302.2(MOGS):c.1457G>C (p.Arg486Thr) http://identifiers.org/clinvar/8194 ^@ NM_006302.2(MOGS):c.1954T>C (p.Phe652Leu) http://identifiers.org/clinvar/8195 ^@ PKD1, IVSDS, G-C, +1 http://identifiers.org/clinvar/8196 ^@ NM_001009944.2(PKD1):c.12124C>T (p.Gln4042Ter) http://identifiers.org/clinvar/8197 ^@ PKD1, 15-BP DEL http://identifiers.org/clinvar/8198 ^@ NM_001009944.2(PKD1):c.12682C>T (p.Arg4228Ter) http://identifiers.org/clinvar/8199 ^@ NM_001009944.2(PKD1):c.11512C>T (p.Gln3838Ter) http://identifiers.org/clinvar/8200 ^@ NM_001009944.2(PKD1):c.12261T>A (p.Cys4087Ter) http://identifiers.org/clinvar/8201 ^@ NM_001009944.2(PKD1):c.11457C>A (p.Tyr3819Ter) http://identifiers.org/clinvar/8202 ^@ PKD1, 12036G-A http://identifiers.org/clinvar/8203 ^@ PKD1, 28-BP DEL, NT6434 http://identifiers.org/clinvar/8204 ^@ PKD1, IVS14AS, G-A, -1 http://identifiers.org/clinvar/8205 ^@ NM_001009944.2(PKD1):c.971G>T (p.Arg324Leu) http://identifiers.org/clinvar/8206 ^@ NM_001009944.2(PKD1):c.2534T>C (p.Leu845Ser) http://identifiers.org/clinvar/8207 ^@ NM_001009944.2(PKD1):c.5764C>T (p.Gln1922Ter) http://identifiers.org/clinvar/8208 ^@ PKD1, 2-BP DEL, 5224AG http://identifiers.org/clinvar/8209 ^@ NM_001009944.2(PKD1):c.12420G>A (p.Trp4140Ter) http://identifiers.org/clinvar/8210 ^@ PKD1, 3-BP DEL, EX20 and 8-BP DEL, EX21 http://identifiers.org/clinvar/8211 ^@ PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS http://identifiers.org/clinvar/8212 ^@ PTCH1, 11-BP DEL, NT2442 http://identifiers.org/clinvar/8213 ^@ NM_000264.3(PTCH1):c.1081C>T (p.Gln361Ter) http://identifiers.org/clinvar/8214 ^@ PTCH1, 37-BP DEL, NT808 http://identifiers.org/clinvar/8215 ^@ PTCH1, 1148G-A http://identifiers.org/clinvar/8216 ^@ PTCH1, 2-BP INS, 2047CT http://identifiers.org/clinvar/8217 ^@ PTCH1, 1-BP INS, 2000C http://identifiers.org/clinvar/8218 ^@ PTCH1, 1-BP DEL, 2583C http://identifiers.org/clinvar/8219 ^@ PTCH1, PRO-SER, 451C-T http://identifiers.org/clinvar/8220 ^@ NM_000264.3(PTCH1):c.3340A>T (p.Arg1114Trp) http://identifiers.org/clinvar/8221 ^@ NM_000264.3(PTCH1):c.1177G>A (p.Ala393Thr) http://identifiers.org/clinvar/8222 ^@ NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) http://identifiers.org/clinvar/8223 ^@ NM_000264.3(PTCH1):c.2479A>G (p.Ser827Gly) http://identifiers.org/clinvar/8224 ^@ NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) http://identifiers.org/clinvar/8225 ^@ NM_000264.3(PTCH1):c.2723T>G (p.Val908Gly) http://identifiers.org/clinvar/8226 ^@ PTCH1, 1-BP INS, 1247T http://identifiers.org/clinvar/8227 ^@ NM_020328.3(ACVR1B):c.1282_1286delGATGA (p.Asp428Asnfs) http://identifiers.org/clinvar/8228 ^@ NM_020328.3(ACVR1B):c.1385-502_1515+24del http://identifiers.org/clinvar/8229 ^@ BMPR1A, 4-BP DEL, 44TGTT http://identifiers.org/clinvar/8230 ^@ NM_004329.2(BMPR1A):c.715C>T (p.Gln239Ter) http://identifiers.org/clinvar/8231 ^@ NM_004329.2(BMPR1A):c.812G>A (p.Trp271Ter) http://identifiers.org/clinvar/8232 ^@ BMPR1A, 1-BP DEL, 961C http://identifiers.org/clinvar/8233 ^@ NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) http://identifiers.org/clinvar/8234 ^@ NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) http://identifiers.org/clinvar/8235 ^@ NM_004329.2(BMPR1A):c.1127G>A (p.Cys376Tyr) http://identifiers.org/clinvar/8236 ^@ NM_004329.2(BMPR1A):c.1409T>C (p.Met470Thr) http://identifiers.org/clinvar/8237 ^@ BMPR1A, 11-BP DEL, CODON 42 http://identifiers.org/clinvar/8238 ^@ BMPR1A, DEL http://identifiers.org/clinvar/8239 ^@ NM_005592.3(MUSK):c.2368G>A (p.Val790Met) http://identifiers.org/clinvar/8240 ^@ NM_005592.3(MUSK):c.220dupC (p.Arg74Profs) http://identifiers.org/clinvar/242799 ^@ NM_000452.2(SLC10A2):c.728T>C (p.Leu243Pro) http://identifiers.org/clinvar/8242 ^@ NM_000452.2(SLC10A2):c.584_585+1delAAGinsCTT http://identifiers.org/clinvar/8243 ^@ NM_000020.2(ACVRL1):c.1232G>A (p.Arg411Gln) http://identifiers.org/clinvar/8244 ^@ NM_000020.2(ACVRL1):c.1127T>G (p.Met376Arg) http://identifiers.org/clinvar/8246 ^@ NM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys) http://identifiers.org/clinvar/8247 ^@ NM_000020.2(ACVRL1):c.143_147delGGGCCinsAGCCT (p.GlyAla48_49GluPro) http://identifiers.org/clinvar/8248 ^@ NM_000020.2(ACVRL1):c.1193T>A (p.Ile398Asn) http://identifiers.org/clinvar/8249 ^@ NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) http://identifiers.org/clinvar/8250 ^@ NM_000020.2(ACVRL1):c.760_762delGAC (p.Asp254del) http://identifiers.org/clinvar/8251 ^@ NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) http://identifiers.org/clinvar/8252 ^@ NM_000020.2(ACVRL1):c.1450C>T (p.Arg484Trp) http://identifiers.org/clinvar/8253 ^@ NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) http://identifiers.org/clinvar/8254 ^@ NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr) http://identifiers.org/clinvar/8255 ^@ NM_000020.2(ACVRL1):c.1196G>C (p.Trp399Ser) http://identifiers.org/clinvar/8256 ^@ NM_000020.2(ACVRL1):c.1113_1114insG (p.Thr372Aspfs) http://identifiers.org/clinvar/8257 ^@ NM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro) http://identifiers.org/clinvar/8258 ^@ NM_000445.4(PLEC):c.5856_5863dupGGAGATCC (p.Leu1955Argfs) http://identifiers.org/clinvar/8259 ^@ NM_000445.4(PLEC):c.2677_2685delCAGGAGGCC (p.Gln893_Ala895del) http://identifiers.org/clinvar/8260 ^@ NM_000445.4(PLEC):c.5815delC (p.Leu1939Trpfs) http://identifiers.org/clinvar/8261 ^@ NM_000445.4(PLEC):c.5105_5112delGGCGCGGC (p.Arg1702Glnfs) http://identifiers.org/clinvar/8262 ^@ NM_201380.3(PLEC):c.6328C>T (p.Arg2110Trp) http://identifiers.org/clinvar/8263 ^@ NM_201378.3(PLEC):c.2557_2570delGAGGCCGTCACCAG (p.Glu853Alafs) http://identifiers.org/clinvar/8264 ^@ NM_000445.4(PLEC):c.913C>T (p.Gln305Ter) http://identifiers.org/clinvar/8265 ^@ NM_201378.3(PLEC):c.1221G>A (p.Ser407=) http://identifiers.org/clinvar/8266 ^@ NM_000445.4(PLEC):c.9085C>T (p.Arg3029Ter) http://identifiers.org/clinvar/8267 ^@ NM_001123041.2(CCR2):c.190G>A (p.Val64Ile) http://identifiers.org/clinvar/8268 ^@ NM_018055.4(NODAL):c.548G>A (p.Arg183Gln) http://identifiers.org/clinvar/8269 ^@ NM_018055.4(NODAL):c.778G>A (p.Gly260Arg) http://identifiers.org/clinvar/8270 ^@ NODAL, 9-BP INS/24-BP DEL, NT700 http://identifiers.org/clinvar/8271 ^@ NODAL, IVS2DS, G-A, +1 http://identifiers.org/clinvar/8272 ^@ NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys) http://identifiers.org/clinvar/8273 ^@ NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) http://identifiers.org/clinvar/8274 ^@ NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) http://identifiers.org/clinvar/8275 ^@ NM_030662.3(MAP2K2):c.383C>A (p.Pro128Gln) http://identifiers.org/clinvar/8276 ^@ NM_033337.2(CAV3):c.314C>T (p.Pro105Leu) http://identifiers.org/clinvar/8277 ^@ NM_033337.2(CAV3):c.189_197delCACCTTCAC (p.Thr64_Thr66del) http://identifiers.org/clinvar/8278 ^@ NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) http://identifiers.org/clinvar/8279 ^@ NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) http://identifiers.org/clinvar/8280 ^@ NM_033337.2(CAV3):c.84C>A (p.Asp28Glu) http://identifiers.org/clinvar/8281 ^@ NM_033337.2(CAV3):c.136G>A (p.Ala46Thr) http://identifiers.org/clinvar/8282 ^@ NM_033337.2(CAV3):c.137C>T (p.Ala46Val) http://identifiers.org/clinvar/8283 ^@ NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) http://identifiers.org/clinvar/8284 ^@ NM_033337.2(CAV3):c.260T>C (p.Leu87Pro) http://identifiers.org/clinvar/8285 ^@ NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) http://identifiers.org/clinvar/8286 ^@ NM_033337.2(CAV3):c.290_292delTCT (p.Phe97del) http://identifiers.org/clinvar/8287 ^@ NM_033337.2(CAV3):c.86C>T (p.Pro29Leu) http://identifiers.org/clinvar/8288 ^@ NM_033337.2(CAV3):c.191C>G (p.Thr64Ser) http://identifiers.org/clinvar/8289 ^@ NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) http://identifiers.org/clinvar/8290 ^@ NM_033337.2(CAV3):c.139G>A (p.Glu47Lys) http://identifiers.org/clinvar/8291 ^@ NM_033337.2(CAV3):c.423C>G (p.Ser141Arg) http://identifiers.org/clinvar/8292 ^@ NM_033337.2(CAV3):c.290T>G (p.Phe97Cys) http://identifiers.org/clinvar/8293 ^@ NM_033337.2(CAV3):c.233C>T (p.Thr78Met) http://identifiers.org/clinvar/8294 ^@ NM_033337.2(CAV3):c.253G>A (p.Ala85Thr) http://identifiers.org/clinvar/8295 ^@ NM_033337.2(CAV3):c.40G>C (p.Val14Leu) http://identifiers.org/clinvar/8296 ^@ NM_033337.2(CAV3):c.236T>G (p.Leu79Arg) http://identifiers.org/clinvar/8297 ^@ NM_139343.2(BIN1):c.105G>T (p.Lys35Asn) http://identifiers.org/clinvar/8298 ^@ NM_139343.2(BIN1):c.451G>A (p.Asp151Asn) http://identifiers.org/clinvar/8299 ^@ NM_139343.2(BIN1):c.1723A>T (p.Lys575Ter) http://identifiers.org/clinvar/8300 ^@ NM_139343.2(BIN1):c.461G>A (p.Arg154Gln) http://identifiers.org/clinvar/8301 ^@ GAMT, IVS2DS, G-A, -1 http://identifiers.org/clinvar/8302 ^@ NM_000156.5(GAMT):c.299_311dupGGGACTGGGCCCC (p.Arg105Glyfs) http://identifiers.org/clinvar/8303 ^@ NM_000156.5(GAMT):c.59G>C (p.Trp20Ser) http://identifiers.org/clinvar/8304 ^@ NM_000156.5(GAMT):c.506G>A (p.Cys169Tyr) http://identifiers.org/clinvar/8305 ^@ NM_000156.5(GAMT):c.148A>C (p.Met50Leu) http://identifiers.org/clinvar/8306 ^@ NM_001390.4(DTNA):c.362C>T (p.Pro121Leu) http://identifiers.org/clinvar/8307 ^@ NM_001184.3(ATR):c.2022A>G (p.Gly674=) http://identifiers.org/clinvar/8308 ^@ NM_005982.3(SIX1):c.386A>G (p.Tyr129Cys) http://identifiers.org/clinvar/8309 ^@ NM_005982.3(SIX1):c.328C>T (p.Arg110Trp) http://identifiers.org/clinvar/8310 ^@ NM_005982.3(SIX1):c.397_399delGAG (p.Glu133del) http://identifiers.org/clinvar/8311 ^@ NM_005982.3(SIX1):c.364T>A (p.Trp122Arg) http://identifiers.org/clinvar/8312 ^@ NM_000388.3(CASR):c.2383C>T (p.Arg795Trp) http://identifiers.org/clinvar/8313 ^@ NM_000388.3(CASR):c.889G>A (p.Glu297Lys) http://identifiers.org/clinvar/8314 ^@ NM_000388.3(CASR):c.554G>A (p.Arg185Gln) http://identifiers.org/clinvar/8315 ^@ NM_000388.3(CASR):c.380A>C (p.Glu127Ala) http://identifiers.org/clinvar/8316 ^@ CASR, ALU INS, CODON 877 http://identifiers.org/clinvar/8317 ^@ NM_000388.3(CASR):c.680G>T (p.Arg227Leu) http://identifiers.org/clinvar/8318 ^@ NM_000388.3(CASR):c.1745G>A (p.Cys582Tyr) http://identifiers.org/clinvar/8319 ^@ NM_000388.3(CASR):c.2241_2242delCCinsT (p.Ser749Glnfs) http://identifiers.org/clinvar/8320 ^@ NM_000388.3(CASR):c.2043G>T (p.Gln681His) http://identifiers.org/clinvar/8321 ^@ NM_000388.3(CASR):c.346G>A (p.Ala116Thr) http://identifiers.org/clinvar/8322 ^@ NM_000388.3(CASR):c.2417T>C (p.Phe806Ser) http://identifiers.org/clinvar/8323 ^@ NM_000388.3(CASR):c.452C>T (p.Thr151Met) http://identifiers.org/clinvar/8324 ^@ NM_000388.3(CASR):c.354C>A (p.Asn118Lys) http://identifiers.org/clinvar/8325 ^@ NM_000388.3(CASR):c.382T>C (p.Phe128Leu) http://identifiers.org/clinvar/8326 ^@ NM_000388.3(CASR):c.571G>A (p.Glu191Lys) http://identifiers.org/clinvar/8327 ^@ NM_000388.3(CASR):c.1835T>C (p.Phe612Ser) http://identifiers.org/clinvar/8328 ^@ NM_000388.3(CASR):c.2318T>G (p.Leu773Arg) http://identifiers.org/clinvar/8329 ^@ NM_000388.3(CASR):c.2009G>A (p.Gly670Glu) http://identifiers.org/clinvar/8330 ^@ NM_000388.3(CASR):c.115C>G (p.Pro39Ala) http://identifiers.org/clinvar/8331 ^@ NM_000388.3(CASR):c.680G>A (p.Arg227Gln) http://identifiers.org/clinvar/8332 ^@ NM_000388.3(CASR):c.413C>T (p.Thr138Met) http://identifiers.org/clinvar/8333 ^@ NM_000388.3(CASR):c.428G>A (p.Gly143Glu) http://identifiers.org/clinvar/8334 ^@ NM_000388.3(CASR):c.185G>T (p.Arg62Met) http://identifiers.org/clinvar/8335 ^@ NM_000388.3(CASR):c.196C>T (p.Arg66Cys) http://identifiers.org/clinvar/8336 ^@ NM_000388.3(CASR):c.2363T>G (p.Phe788Cys) http://identifiers.org/clinvar/8337 ^@ NM_000388.3(CASR):c.141A>C (p.Lys47Asn) http://identifiers.org/clinvar/8338 ^@ NM_000388.3(CASR):c.1846C>G (p.Leu616Val) http://identifiers.org/clinvar/8339 ^@ NM_000388.3(CASR):c.2682_3224del543 (p.Ser895_Val1075del) http://identifiers.org/clinvar/8340 ^@ NM_000388.3(CASR):c.2641T>C (p.Phe881Leu) http://identifiers.org/clinvar/8341 ^@ NM_000388.3(CASR):c.1942C>T (p.Arg648Ter) http://identifiers.org/clinvar/8342 ^@ NM_000388.3(CASR):c.186-1G>T http://identifiers.org/clinvar/8343 ^@ NM_000388.3(CASR):c.2528C>A (p.Ala843Glu) http://identifiers.org/clinvar/8344 ^@ NM_000388.3(CASR):c.393C>G (p.Cys131Trp) http://identifiers.org/clinvar/8345 ^@ NM_000388.3(CASR):c.553C>T (p.Arg185Ter) http://identifiers.org/clinvar/8346 ^@ NM_000388.3(CASR):c.374T>C (p.Leu125Pro) http://identifiers.org/clinvar/8347 ^@ NM_000388.3(CASR):c.2459C>T (p.Ser820Phe) http://identifiers.org/clinvar/8348 ^@ NM_000388.3(CASR):c.2362T>C (p.Phe788Leu) http://identifiers.org/clinvar/8349 ^@ NM_001178065.1(CASR):c.2986G>T (p.Ala996Ser) http://identifiers.org/clinvar/8350 ^@ NM_000388.3(CASR):c.1810G>A (p.Glu604Lys) http://identifiers.org/clinvar/8351 ^@ NM_000388.3(CASR):c.280G>T (p.Gly94Ter) http://identifiers.org/clinvar/8352 ^@ NM_000388.3(CASR):c.1394G>A (p.Arg465Gln) http://identifiers.org/clinvar/8353 ^@ NM_000388.3(CASR):c.38T>C (p.Leu13Pro) http://identifiers.org/clinvar/8354 ^@ NM_000388.3(CASR):c.2180T>A (p.Leu727Gln) http://identifiers.org/clinvar/8355 ^@ NM_000388.3(CASR):c.539T>G (p.Phe180Cys) http://identifiers.org/clinvar/8356 ^@ NM_000388.3(CASR):c.1745G>T (p.Cys582Phe) http://identifiers.org/clinvar/8357 ^@ NM_000388.3(CASR):c.1657G>A (p.Gly553Arg) http://identifiers.org/clinvar/8359 ^@ NM_000388.3(CASR):c.2693G>A (p.Arg898Gln) http://identifiers.org/clinvar/8360 ^@ NM_003263.3(TLR1):c.1805G>T (p.Ser602Ile) http://identifiers.org/clinvar/8361 ^@ NM_003263.3(TLR1):c.743A>G (p.Asn248Ser) http://identifiers.org/clinvar/8362 ^@ PDE6H, -29G-C, 5-PRIME UTR http://identifiers.org/clinvar/8363 ^@ NM_006267.4(RANBP2):c.1754C>T (p.Thr585Met) http://identifiers.org/clinvar/8364 ^@ NM_006267.4(RANBP2):c.1958C>T (p.Thr653Ile) http://identifiers.org/clinvar/8365 ^@ NM_006267.4(RANBP2):c.1966A>G (p.Ile656Val) http://identifiers.org/clinvar/8366 ^@ GCLM, -588C-T http://identifiers.org/clinvar/8367 ^@ CCL11, -1385G-A http://identifiers.org/clinvar/8368 ^@ CCL11, (GAAGGA)n http://identifiers.org/clinvar/8369 ^@ NM_030653.3(DDX11):c.2271+2T>C http://identifiers.org/clinvar/8370 ^@ NM_030653.3(DDX11):c.2689_2691delAAG (p.Lys897del) http://identifiers.org/clinvar/8371 ^@ NM_001001557.3(GDF6):c.746C>A (p.Ala249Glu) http://identifiers.org/clinvar/8372 ^@ NM_001001557.3(GDF6):c.866T>C (p.Leu289Pro) http://identifiers.org/clinvar/8373 ^@ NM_001001557.3(GDF6):c.1271A>G (p.Lys424Arg) http://identifiers.org/clinvar/8374 ^@ NM_001001557.3(GDF6):c.125G>T (p.Gly42Val) http://identifiers.org/clinvar/8375 ^@ NM_001001557.3(GDF6):c.758A>T (p.Gln253Leu) http://identifiers.org/clinvar/8376 ^@ NM_001001557.3(GDF6):c.980C>A (p.Pro327His) http://identifiers.org/clinvar/8377 ^@ GDF5, 22-BP DUP http://identifiers.org/clinvar/8378 ^@ NM_000557.4(GDF5):c.901C>T (p.Arg301Ter) http://identifiers.org/clinvar/8379 ^@ NM_000557.4(GDF5):c.1199G>A (p.Cys400Tyr) http://identifiers.org/clinvar/8380 ^@ GDF5, 1-BP INS, 297C http://identifiers.org/clinvar/8381 ^@ NM_000557.4(GDF5):c.1322T>C (p.Leu441Pro) http://identifiers.org/clinvar/8382 ^@ GDF5, 23-BP INS, NT811 http://identifiers.org/clinvar/8383 ^@ GDF5, 1-BP DEL, 1144G http://identifiers.org/clinvar/8384 ^@ NM_000557.4(GDF5):c.517A>G (p.Met173Val) http://identifiers.org/clinvar/8385 ^@ GDF5, 1-BP INS, 206G http://identifiers.org/clinvar/8386 ^@ NM_000557.4(GDF5):c.1313G>T (p.Arg438Leu) http://identifiers.org/clinvar/8387 ^@ GDF5, 3-BP DEL, 1309TTG, SER439THR, AND HIS440LEU http://identifiers.org/clinvar/8388 ^@ NM_000557.4(GDF5):c.1424G>A (p.Ser475Asn) http://identifiers.org/clinvar/8389 ^@ NM_000557.4(GDF5):c.1471G>A (p.Glu491Lys) http://identifiers.org/clinvar/8390 ^@ NM_000557.4(GDF5):c.-275T>C http://identifiers.org/clinvar/8391 ^@ NM_000557.4(GDF5):c.1461T>G (p.Tyr487Ter) http://identifiers.org/clinvar/8392 ^@ NM_000557.4(GDF5):c.1118T>G (p.Leu373Arg) http://identifiers.org/clinvar/8393 ^@ NM_000557.4(GDF5):c.1133G>A (p.Arg378Gln) http://identifiers.org/clinvar/8394 ^@ NM_000557.4(GDF5):c.1306C>A (p.Pro436Thr) http://identifiers.org/clinvar/8395 ^@ NM_000100.3(CSTB):c.67-1G>C http://identifiers.org/clinvar/8396 ^@ NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) http://identifiers.org/clinvar/8397 ^@ NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) http://identifiers.org/clinvar/8398 ^@ NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3) http://identifiers.org/clinvar/8399 ^@ CSTB, 2-BP DEL, 2404TC http://identifiers.org/clinvar/8400 ^@ NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) http://identifiers.org/clinvar/8401 ^@ NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) http://identifiers.org/clinvar/8402 ^@ NM_001190836.1(DCTN1):c.3620C>T (p.Thr1207Ile) http://identifiers.org/clinvar/8403 ^@ NM_004082.4(DCTN1):c.1712T>C (p.Met571Thr) http://identifiers.org/clinvar/8404 ^@ NM_001135041.2(DCTN1):c.1951C>T (p.Arg651Trp) http://identifiers.org/clinvar/8405 ^@ NM_004082.4(DCTN1):c.3302G>A (p.Arg1101Lys) http://identifiers.org/clinvar/8406 ^@ NM_004082.4(DCTN1):c.211G>A (p.Gly71Arg) http://identifiers.org/clinvar/8407 ^@ NM_004082.4(DCTN1):c.221A>C (p.Gln74Pro) http://identifiers.org/clinvar/8408 ^@ NM_000771.3(CYP2C9):c.1075A>C (p.Ile359Leu) http://identifiers.org/clinvar/8409 ^@ NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys) http://identifiers.org/clinvar/8410 ^@ NM_000771.3(CYP2C9):c.622T>G (p.Leu208Val) http://identifiers.org/clinvar/8411 ^@ CYP2C8, 1-BP DEL, 475A DEL http://identifiers.org/clinvar/8412 ^@ NM_000392.4(ABCC2):c.2302C>T (p.Arg768Trp) http://identifiers.org/clinvar/8414 ^@ NM_000392.4(ABCC2):c.1815+2T>A http://identifiers.org/clinvar/8415 ^@ ABCC2, IVS18DS, T-C, +2 http://identifiers.org/clinvar/8416 ^@ NM_000392.4(ABCC2):c.4145A>G (p.Gln1382Arg) http://identifiers.org/clinvar/8417 ^@ NM_000392.4(ABCC2):c.1967+2T>C http://identifiers.org/clinvar/8418 ^@ NM_000392.4(ABCC2):c.3517A>T (p.Ile1173Phe) http://identifiers.org/clinvar/8419 ^@ NM_000392.4(ABCC2):c.3449G>A (p.Arg1150His) http://identifiers.org/clinvar/8420 ^@ NM_000396.3(CTSK):c.990A>G (p.Ter330Trp) http://identifiers.org/clinvar/8421 ^@ NM_000396.3(CTSK):c.436G>C (p.Gly146Arg) http://identifiers.org/clinvar/8422 ^@ NM_000396.3(CTSK):c.721C>T (p.Arg241Ter) http://identifiers.org/clinvar/8423 ^@ NM_000396.3(CTSK):c.830C>T (p.Ala277Val) http://identifiers.org/clinvar/8424 ^@ NM_000396.3(CTSK):c.236G>A (p.Gly79Glu) http://identifiers.org/clinvar/8425 ^@ NM_000396.3(CTSK):c.154A>T (p.Lys52Ter) http://identifiers.org/clinvar/8426 ^@ NM_000396.3(CTSK):c.926T>C (p.Leu309Pro) http://identifiers.org/clinvar/8427 ^@ PMP22, 1.4-MB DUP http://identifiers.org/clinvar/8428 ^@ NM_000304.3(PMP22):c.47T>C (p.Leu16Pro) http://identifiers.org/clinvar/8429 ^@ NM_000304.3(PMP22):c.236C>G (p.Ser79Cys) http://identifiers.org/clinvar/8430 ^@ PMP22, 1.1- to 1.5-MB DEL http://identifiers.org/clinvar/8431 ^@ NM_000304.3(PMP22):c.353C>T (p.Thr118Met) http://identifiers.org/clinvar/8432 ^@ NM_000304.3(PMP22):c.206T>A (p.Met69Lys) http://identifiers.org/clinvar/8433 ^@ NM_000304.3(PMP22):c.215C>T (p.Ser72Leu) http://identifiers.org/clinvar/8434 ^@ NM_000304.3(PMP22):c.36C>A (p.His12Gln) http://identifiers.org/clinvar/8435 ^@ NM_000304.3(PMP22):c.19_20delAG (p.Ser7Tyrfs) http://identifiers.org/clinvar/8436 ^@ NM_000304.3(PMP22):c.199G>C (p.Ala67Pro) http://identifiers.org/clinvar/8437 ^@ NM_000304.3(PMP22):c.281dupG (p.Arg95Glnfs) http://identifiers.org/clinvar/8438 ^@ NM_000304.3(PMP22):c.238_239delCT (p.Leu80Valfs) http://identifiers.org/clinvar/8439 ^@ NM_000304.3(PMP22):c.448G>T (p.Gly150Cys) http://identifiers.org/clinvar/8440 ^@ NM_000304.3(PMP22):c.82T>C (p.Trp28Arg) http://identifiers.org/clinvar/8441 ^@ NM_000304.3(PMP22):c.344_355delCCATCTACACGG (p.Ala115_Thr118del) http://identifiers.org/clinvar/8442 ^@ NM_000304.3(PMP22):c.110A>T (p.Asp37Val) http://identifiers.org/clinvar/8443 ^@ NM_000304.3(PMP22):c.199G>A (p.Ala67Thr) http://identifiers.org/clinvar/8444 ^@ NM_000304.3(PMP22):c.469C>T (p.Arg157Trp) http://identifiers.org/clinvar/8445 ^@ NM_000304.3(PMP22):c.65C>T (p.Ser22Phe) http://identifiers.org/clinvar/8446 ^@ NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del http://identifiers.org/clinvar/8447 ^@ FOXE3, 1-BP INS, 943G http://identifiers.org/clinvar/8448 ^@ NM_012186.2(FOXE3):c.720C>A (p.Cys240Ter) http://identifiers.org/clinvar/8449 ^@ NM_012188.4(FOXI1):c.773G>A (p.Gly258Glu) http://identifiers.org/clinvar/8450 ^@ NM_012188.4(FOXI1):c.800G>A (p.Arg267Gln) http://identifiers.org/clinvar/8451 ^@ FOXC1, 11-BP DEL http://identifiers.org/clinvar/8452 ^@ NM_001453.2(FOXC1):c.392C>T (p.Ser131Leu) http://identifiers.org/clinvar/8453 ^@ NM_001453.2(FOXC1):c.378C>G (p.Ile126Met) http://identifiers.org/clinvar/8454 ^@ NM_001453.2(FOXC1):c.335T>C (p.Phe112Ser) http://identifiers.org/clinvar/8455 ^@ NM_001453.2(FOXC1):c.67C>T (p.Gln23Ter) http://identifiers.org/clinvar/8456 ^@ FOXC1, DUP http://identifiers.org/clinvar/8457 ^@ FOXC1, 22-BP INS, NT26 http://identifiers.org/clinvar/8458 ^@ NM_001453.2(FOXC1):c.245G>C (p.Ser82Thr) http://identifiers.org/clinvar/8459 ^@ NM_001453.2(FOXC1):c.261C>G (p.Ile87Met) http://identifiers.org/clinvar/8460 ^@ NM_001453.2(FOXC1):c.388C>T (p.Leu130Phe) http://identifiers.org/clinvar/8461 ^@ NM_001453.2(FOXC1):c.358C>T (p.Gln120Ter) http://identifiers.org/clinvar/8462 ^@ NM_001451.2(FOXF1):c.225C>A (p.Tyr75Ter) http://identifiers.org/clinvar/8463 ^@ NM_001451.2(FOXF1):c.1138T>C (p.Ter380Arg) http://identifiers.org/clinvar/8464 ^@ FOXF1, 1-BP DUP, 775T http://identifiers.org/clinvar/8465 ^@ FOXF1, 2-BP DEL, 956TT http://identifiers.org/clinvar/8466 ^@ NM_001605.2(AARS):c.986G>A (p.Arg329His) http://identifiers.org/clinvar/8467 ^@ NM_001753.4(CAV1):c.112G>T (p.Glu38Ter) http://identifiers.org/clinvar/8468 ^@ NM_007126.3(VCP):c.464G>A (p.Arg155His) http://identifiers.org/clinvar/8469 ^@ NM_007126.3(VCP):c.463C>T (p.Arg155Cys) http://identifiers.org/clinvar/8470 ^@ NM_007126.3(VCP):c.695C>A (p.Ala232Glu) http://identifiers.org/clinvar/8471 ^@ NM_007126.3(VCP):c.283C>G (p.Arg95Gly) http://identifiers.org/clinvar/8472 ^@ NM_007126.3(VCP):c.464G>C (p.Arg155Pro) http://identifiers.org/clinvar/8473 ^@ NM_007126.3(VCP):c.572G>A (p.Arg191Gln) http://identifiers.org/clinvar/8474 ^@ NM_007126.3(VCP):c.476G>A (p.Arg159His) http://identifiers.org/clinvar/8475 ^@ NFKBIL1, -62T-A http://identifiers.org/clinvar/8476 ^@ NM_003098.2(SNTA1):c.1169C>T (p.Ala390Val) http://identifiers.org/clinvar/8477 ^@ NM_006432.3(NPC2):c.58G>T (p.Glu20Ter) http://identifiers.org/clinvar/8478 ^@ NPC2, 1-BP DEL, 111A http://identifiers.org/clinvar/8479 ^@ NM_006432.3(NPC2):c.190+5G>A http://identifiers.org/clinvar/8480 ^@ NM_006432.3(NPC2):c.352G>T (p.Glu118Ter) http://identifiers.org/clinvar/8481 ^@ NPC2, 1-BP DEL, 27G http://identifiers.org/clinvar/8482 ^@ NM_006432.3(NPC2):c.199T>C (p.Ser67Pro) http://identifiers.org/clinvar/8483 ^@ NM_006432.3(NPC2):c.115G>A (p.Val39Met) http://identifiers.org/clinvar/8484 ^@ NPC2, IVS1DS, T-C, +2 http://identifiers.org/clinvar/8485 ^@ NM_006432.3(NPC2):c.436C>T (p.Gln146Ter) http://identifiers.org/clinvar/8486 ^@ NM_006432.3(NPC2):c.358C>T (p.Pro120Ser) http://identifiers.org/clinvar/8487 ^@ NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/8488 ^@ NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) http://identifiers.org/clinvar/8489 ^@ NM_001127221.1(CACNA1A):c.2141T>C (p.Val714Ala) http://identifiers.org/clinvar/8490 ^@ NM_001127221.1(CACNA1A):c.5428A>C (p.Ile1810Leu) http://identifiers.org/clinvar/8491 ^@ NM_001127221.1(CACNA1A):c.3797delC (p.Pro1266Leufs) http://identifiers.org/clinvar/8492 ^@ NM_001127221.1(CACNA1A):c.3992+1G>A http://identifiers.org/clinvar/8493 ^@ NM_001127222.1(CACNA1A):c.6937_6939CAG(6_17) (p.Gln2319_Gln2325del) http://identifiers.org/clinvar/8495 ^@ NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) http://identifiers.org/clinvar/8496 ^@ NM_001127221.1(CACNA1A):c.877G>A (p.Gly293Arg) http://identifiers.org/clinvar/8497 ^@ NM_001127221.1(CACNA1A):c.2145C>A (p.Asp715Glu) http://identifiers.org/clinvar/8498 ^@ NM_001127221.1(CACNA1A):c.4469T>C (p.Phe1490Ser) http://identifiers.org/clinvar/8499 ^@ NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys) http://identifiers.org/clinvar/8500 ^@ NM_001127221.1(CACNA1A):c.5266G>A (p.Glu1756Lys) http://identifiers.org/clinvar/8501 ^@ NM_001127221.1(CACNA1A):c.2816dupG (p.Ser940Glnfs) http://identifiers.org/clinvar/8502 ^@ NM_001127221.1(CACNA1A):c.4845delG (p.Val1617Serfs) http://identifiers.org/clinvar/8503 ^@ NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) http://identifiers.org/clinvar/8504 ^@ NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu) http://identifiers.org/clinvar/8505 ^@ NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) http://identifiers.org/clinvar/8506 ^@ NM_001127221.1(CACNA1A):c.3832C>T (p.Arg1278Ter) http://identifiers.org/clinvar/8507 ^@ NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) http://identifiers.org/clinvar/8508 ^@ NM_001127221.1(CACNA1A):c.4208T>G (p.Phe1403Cys) http://identifiers.org/clinvar/8509 ^@ NM_001127221.1(CACNA1A):c.5455C>T (p.Arg1819Ter) http://identifiers.org/clinvar/8510 ^@ NM_001127221.1(CACNA1A):c.5126T>C (p.Ile1709Thr) http://identifiers.org/clinvar/8511 ^@ NM_001127221.1(CACNA1A):c.860G>A (p.Cys287Tyr) http://identifiers.org/clinvar/8512 ^@ NC_000019.10:g.13204242_13243808del39567 http://identifiers.org/clinvar/8513 ^@ NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) http://identifiers.org/clinvar/8514 ^@ NG_011569.1:g.(5530_139682)_(139773_151661)del http://identifiers.org/clinvar/8515 ^@ NG_011569.1:g.(139774_151662)_(151855_175551)del http://identifiers.org/clinvar/8516 ^@ NG_011569.1:g.(139774_151662)_(151855_175551)dup http://identifiers.org/clinvar/8517 ^@ NC_000019.10:g.(13255260_13259564)_(13259701_?)del http://identifiers.org/clinvar/8518 ^@ NG_011569.1:g.(210912_224495)_(286794_296852)del http://identifiers.org/clinvar/8519 ^@ NG_011569.1:g.(286795_296853)_(303563_305019)del http://identifiers.org/clinvar/8520 ^@ NG_011569.1:g.(286795_296853)_(303563_305019)del http://identifiers.org/clinvar/8521 ^@ NM_002303.5(LEPR):c.668A>G (p.Gln223Arg) http://identifiers.org/clinvar/8522 ^@ LEPR, IVS16, G-A, +1 http://identifiers.org/clinvar/8523 ^@ NM_002303.5(LEPR):c.326A>G (p.Lys109Arg) http://identifiers.org/clinvar/8524 ^@ NM_002303.5(LEPR):c.1968G>C (p.Lys656Asn) http://identifiers.org/clinvar/8525 ^@ NM_000178.3(GSS):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/8526 ^@ GSS, 1-BP DEL, NT3/4G http://identifiers.org/clinvar/8527 ^@ NM_000178.3(GSS):c.799C>T (p.Arg267Trp) http://identifiers.org/clinvar/8528 ^@ NM_000178.3(GSS):c.847C>T (p.Arg283Cys) http://identifiers.org/clinvar/8529 ^@ NM_000178.3(GSS):c.373C>T (p.Arg125Cys) http://identifiers.org/clinvar/8530 ^@ NM_000178.3(GSS):c.941C>T (p.Pro314Leu) http://identifiers.org/clinvar/8531 ^@ NM_000178.3(GSS):c.656A>G (p.Asp219Gly) http://identifiers.org/clinvar/8532 ^@ NM_004442.7(EPHB2):c.2167C>T (p.Gln723Ter) http://identifiers.org/clinvar/8533 ^@ NM_004442.7(EPHB2):c.835G>T (p.Ala279Ser) http://identifiers.org/clinvar/8534 ^@ NM_004442.7(EPHB2):c.2035G>A (p.Asp679Asn) http://identifiers.org/clinvar/8535 ^@ NM_001309193.1(EPHB2):c.3055A>T (p.Lys1019Ter) http://identifiers.org/clinvar/8536 ^@ NM_005359.5(SMAD4):c.1072G>T (p.Gly358Ter) http://identifiers.org/clinvar/8538 ^@ NM_005359.5(SMAD4):c.1477G>C (p.Asp493His) http://identifiers.org/clinvar/8539 ^@ NM_005359.5(SMAD4):c.1543A>T (p.Arg515Ter) http://identifiers.org/clinvar/8540 ^@ SMAD4, 4-BP DEL, NT1372 http://identifiers.org/clinvar/8541 ^@ SMAD4, 2-BP DEL http://identifiers.org/clinvar/8542 ^@ SMAD4, 1-BP INS http://identifiers.org/clinvar/8543 ^@ NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) http://identifiers.org/clinvar/8544 ^@ SMAD4, 2-BP DEL, 959AC http://identifiers.org/clinvar/8545 ^@ NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) http://identifiers.org/clinvar/8547 ^@ SMAD4, 14-BP DEL, NT1612 http://identifiers.org/clinvar/8548 ^@ SMAD4, 2-BP DEL/1-BP INS, 1596CC/T http://identifiers.org/clinvar/8549 ^@ TNXB, 30-KB DEL http://identifiers.org/clinvar/8550 ^@ NM_019105.6(TNXB):c.3290_3291delAA (p.Lys1097Argfs) http://identifiers.org/clinvar/8551 ^@ NM_019105.6(TNXB):c.2116_2117dupGT (p.Glu707Terfs) http://identifiers.org/clinvar/8552 ^@ NM_019105.6(TNXB):c.3322G>A (p.Val1108Met) http://identifiers.org/clinvar/8553 ^@ NR3C2, 1-BP DEL, 1226G http://identifiers.org/clinvar/8554 ^@ NR3C2, 1-BP DEL, 1597T http://identifiers.org/clinvar/8555 ^@ NM_000901.4(NR3C2):c.1609C>T (p.Arg537Ter) http://identifiers.org/clinvar/8556 ^@ NR3C2, IVS5, 1-BP DEL, A, +3 http://identifiers.org/clinvar/8557 ^@ NM_000901.4(NR3C2):c.2429C>T (p.Ser810Leu) http://identifiers.org/clinvar/8558 ^@ NR3C2, 1-BP INS, 2871C http://identifiers.org/clinvar/8559 ^@ NM_000901.4(NR3C2):c.2771T>C (p.Leu924Pro) http://identifiers.org/clinvar/8560 ^@ NR3C2, 1-BP INS, 1354T http://identifiers.org/clinvar/8561 ^@ NR3C2, 8-BP DEL, NT537 http://identifiers.org/clinvar/8562 ^@ NM_000901.4(NR3C2):c.1935C>A (p.Cys645Ter) http://identifiers.org/clinvar/8563 ^@ NM_000901.4(NR3C2):c.2327A>G (p.Gln776Arg) http://identifiers.org/clinvar/8564 ^@ NM_000901.4(NR3C2):c.1897G>A (p.Gly633Arg) http://identifiers.org/clinvar/8565 ^@ NM_000901.4(NR3C2):c.2936T>C (p.Leu979Pro) http://identifiers.org/clinvar/8566 ^@ NM_000901.4(NR3C2):c.488C>G (p.Ser163Ter) http://identifiers.org/clinvar/8567 ^@ NM_000901.4(NR3C2):c.2839C>T (p.Arg947Ter) http://identifiers.org/clinvar/8568 ^@ NM_000901.4(NR3C2):c.1308T>A (p.Cys436Ter) http://identifiers.org/clinvar/8569 ^@ NM_000901.4(NR3C2):c.2017C>T (p.Arg673Ter) http://identifiers.org/clinvar/8570 ^@ NM_000901.4(NR3C2):c.2024C>G (p.Ser675Ter) http://identifiers.org/clinvar/8571 ^@ NM_000901.4(NR3C2):c.2453C>T (p.Ser818Leu) http://identifiers.org/clinvar/8572 ^@ NM_000901.4(NR3C2):c.2915A>G (p.Glu972Gly) http://identifiers.org/clinvar/8573 ^@ NM_004407.3(DMP1):c.362delC (p.Pro121Glnfs) http://identifiers.org/clinvar/8574 ^@ NM_004407.3(DMP1):c.55-1G>C http://identifiers.org/clinvar/8575 ^@ NM_004407.3(DMP1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/8576 ^@ NM_004407.3(DMP1):c.1485_1491delCTATCAC (p.Tyr496Thrfs) http://identifiers.org/clinvar/8577 ^@ NM_004999.3(MYO6):c.1325G>A (p.Cys442Tyr) http://identifiers.org/clinvar/8578 ^@ MYO6, 1-BP INS, 36T http://identifiers.org/clinvar/8579 ^@ NM_004999.3(MYO6):c.3496C>T (p.Arg1166Ter) http://identifiers.org/clinvar/8580 ^@ NM_004999.3(MYO6):c.647A>T (p.Glu216Val) http://identifiers.org/clinvar/8581 ^@ NM_004999.3(MYO6):c.737A>G (p.His246Arg) http://identifiers.org/clinvar/8582 ^@ NM_004999.3(MYO6):c.2545C>T (p.Arg849Ter) http://identifiers.org/clinvar/8583 ^@ MYO6, IVS23, T-G, +2321 http://identifiers.org/clinvar/8584 ^@ NM_000339.2(SLC12A3):c.2576T>C (p.Leu859Pro) http://identifiers.org/clinvar/8585 ^@ NM_000339.2(SLC12A3):c.1261T>C (p.Cys421Arg) http://identifiers.org/clinvar/8586 ^@ NM_000339.2(SLC12A3):c.625C>T (p.Arg209Trp) http://identifiers.org/clinvar/8587 ^@ SLC12A3, IVS15AS, G-T, -1 http://identifiers.org/clinvar/8588 ^@ NM_000339.2(SLC12A3):c.1964G>A (p.Arg655His) http://identifiers.org/clinvar/8589 ^@ NM_000339.2(SLC12A3):c.1964G>T (p.Arg655Leu) http://identifiers.org/clinvar/8590 ^@ SLC12A3, IVS23DS, G-T, +1 http://identifiers.org/clinvar/8591 ^@ NM_000339.2(SLC12A3):c.1763C>T (p.Ala588Val) http://identifiers.org/clinvar/8592 ^@ NM_000339.2(SLC12A3):c.1046C>T (p.Pro349Leu) http://identifiers.org/clinvar/8593 ^@ SLC12A3, 3-BP DEL http://identifiers.org/clinvar/8594 ^@ NM_000339.2(SLC12A3):c.1889G>T (p.Gly630Val) http://identifiers.org/clinvar/8595 ^@ NM_000339.2(SLC12A3):c.1868T>C (p.Leu623Pro) http://identifiers.org/clinvar/242798 ^@ NM_000339.2(SLC12A3):c.488C>T (p.Thr163Met) http://identifiers.org/clinvar/8597 ^@ SLC12A3, 2-BP DEL, 2881AG http://identifiers.org/clinvar/8598 ^@ NM_175875.4(SIX5):c.472G>A (p.Ala158Thr) http://identifiers.org/clinvar/8599 ^@ NM_175875.4(SIX5):c.886G>A (p.Ala296Thr) http://identifiers.org/clinvar/8600 ^@ NM_175875.4(SIX5):c.1093G>A (p.Gly365Arg) http://identifiers.org/clinvar/8601 ^@ NM_175875.4(SIX5):c.1655C>T (p.Thr552Met) http://identifiers.org/clinvar/8602 ^@ NM_000256.3(MYBPC3):c.3330+5G>A http://identifiers.org/clinvar/8603 ^@ NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) http://identifiers.org/clinvar/8604 ^@ NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) http://identifiers.org/clinvar/8608 ^@ NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) http://identifiers.org/clinvar/8610 ^@ NM_000256.3(MYBPC3):c.2309-26A>G http://identifiers.org/clinvar/8612 ^@ NM_000256.3(MYBPC3):c.3659_3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs) http://identifiers.org/clinvar/8614 ^@ NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) http://identifiers.org/clinvar/8615 ^@ NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) http://identifiers.org/clinvar/8616 ^@ NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) http://identifiers.org/clinvar/8617 ^@ NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) http://identifiers.org/clinvar/8619 ^@ NM_000256.3(MYBPC3):c.906-1G>C http://identifiers.org/clinvar/8620 ^@ NM_000256.3(MYBPC3):c.3628-34_3628-10del http://identifiers.org/clinvar/8621 ^@ NM_000256.3(MYBPC3):c.3330+2T>G http://identifiers.org/clinvar/8622 ^@ NM_000479.4(AMH):c.1144G>T (p.Glu382Ter) http://identifiers.org/clinvar/8623 ^@ AMH, 14-BP DEL, EX2 http://identifiers.org/clinvar/8624 ^@ NM_000479.4(AMH):c.571C>T (p.Arg191Ter) http://identifiers.org/clinvar/8625 ^@ NM_000479.4(AMH):c.1397_1419dup23 (p.Glu474Serfs) http://identifiers.org/clinvar/8626 ^@ AMHR2, IVS2DS, G-T, +1 http://identifiers.org/clinvar/8627 ^@ AMHR2, 27-BP DEL, NT6331 http://identifiers.org/clinvar/8628 ^@ AMHR2, 1-BP DEL, 1692A http://identifiers.org/clinvar/8629 ^@ NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln) http://identifiers.org/clinvar/8630 ^@ NM_001166579.1(AANAT):c.520G>A (p.Ala174Thr) http://identifiers.org/clinvar/8631 ^@ GHR, EX4,6DEL http://identifiers.org/clinvar/8632 ^@ NM_000163.4(GHR):c.341T>C (p.Phe114Ser) http://identifiers.org/clinvar/8633 ^@ NM_000163.4(GHR):c.181C>T (p.Arg61Ter) http://identifiers.org/clinvar/8634 ^@ NM_000163.4(GHR):c.168C>A (p.Cys56Ter) http://identifiers.org/clinvar/8635 ^@ NM_000163.4(GHR):c.594A>G (p.Glu198=) http://identifiers.org/clinvar/8636 ^@ NM_000163.4(GHR):c.184G>A (p.Glu62Lys) http://identifiers.org/clinvar/8637 ^@ NM_000163.4(GHR):c.535C>T (p.Arg179Cys) http://identifiers.org/clinvar/8638 ^@ NM_000163.4(GHR):c.726G>C (p.Glu242Asp) http://identifiers.org/clinvar/8639 ^@ NM_000163.4(GHR):c.703C>T (p.Arg235Ter) http://identifiers.org/clinvar/8640 ^@ GHR, IVS4DS, G-A, +1 http://identifiers.org/clinvar/8641 ^@ GHR, 2-BP DEL, FS51TER http://identifiers.org/clinvar/8642 ^@ NM_000163.4(GHR):c.619-1G>T http://identifiers.org/clinvar/8643 ^@ GHR, 2-BP DEL, FS234TER http://identifiers.org/clinvar/8644 ^@ NM_000163.4(GHR):c.785_875del http://identifiers.org/clinvar/8645 ^@ NM_000163.4(GHR):c.515A>C (p.Gln172Pro) http://identifiers.org/clinvar/8646 ^@ NM_000163.4(GHR):c.876_945del http://identifiers.org/clinvar/8647 ^@ NM_000163.4(GHR):c.724G>T (p.Glu242Ter) http://identifiers.org/clinvar/8648 ^@ NM_000163.4(GHR):c.518T>G (p.Val173Gly) http://identifiers.org/clinvar/8649 ^@ GHR, 1-BP DEL, FS330TER http://identifiers.org/clinvar/8650 ^@ GHR, IVS9DS, G-A, +1 http://identifiers.org/clinvar/8651 ^@ NM_000163.4(GHR):c.446C>A (p.Pro149Gln) http://identifiers.org/clinvar/8652 ^@ NM_000163.4(GHR):c.484G>A (p.Val162Ile) http://identifiers.org/clinvar/8653 ^@ NM_000163.4(GHR):c.508G>C (p.Asp170His) http://identifiers.org/clinvar/8654 ^@ NM_000163.4(GHR):c.512T>C (p.Ile171Thr) http://identifiers.org/clinvar/8655 ^@ GHR, PSEUDOEXON(-1)A-G http://identifiers.org/clinvar/8656 ^@ GHR, 22-BP DEL http://identifiers.org/clinvar/8657 ^@ NM_000163.4(GHR):c.102G>A (p.Trp34Ter) http://identifiers.org/clinvar/8658 ^@ NM_000163.4(GHR):c.1630A>C (p.Ile544Leu) http://identifiers.org/clinvar/8659 ^@ NM_000163.4(GHR):c.303C>A (p.Cys101Ter) http://identifiers.org/clinvar/8660 ^@ GHR, 1-BP DEL, 1776G http://identifiers.org/clinvar/8661 ^@ GHR, EX3DEL http://identifiers.org/clinvar/8662 ^@ NM_000163.4(GHR):c.335G>C (p.Cys112Ser) http://identifiers.org/clinvar/8663 ^@ NM_000163.4(GHR):c.504T>G (p.His168Gln) http://identifiers.org/clinvar/8664 ^@ SERPINH1, -656C-T http://identifiers.org/clinvar/8665 ^@ NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) http://identifiers.org/clinvar/8666 ^@ NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/8667 ^@ NM_000525.3(KCNJ11):c.175G>A (p.Val59Met) http://identifiers.org/clinvar/8668 ^@ NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys) http://identifiers.org/clinvar/8669 ^@ NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly) http://identifiers.org/clinvar/8670 ^@ NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro) http://identifiers.org/clinvar/8671 ^@ NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg) http://identifiers.org/clinvar/8672 ^@ NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn) http://identifiers.org/clinvar/8673 ^@ NM_000525.3(KCNJ11):c.36C>A (p.Tyr12Ter) http://identifiers.org/clinvar/8674 ^@ NM_000525.3(KCNJ11):c.-134G>T http://identifiers.org/clinvar/8675 ^@ NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) http://identifiers.org/clinvar/8676 ^@ NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) http://identifiers.org/clinvar/8677 ^@ NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) http://identifiers.org/clinvar/8678 ^@ NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) http://identifiers.org/clinvar/8679 ^@ NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe) http://identifiers.org/clinvar/8680 ^@ NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu) http://identifiers.org/clinvar/8681 ^@ NM_000525.3(KCNJ11):c.157G>A (p.Gly53Ser) http://identifiers.org/clinvar/8682 ^@ NM_000525.3(KCNJ11):c.157G>C (p.Gly53Arg) http://identifiers.org/clinvar/8683 ^@ NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) http://identifiers.org/clinvar/8684 ^@ KCNJ11, GLY156ARG http://identifiers.org/clinvar/8685 ^@ NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp) http://identifiers.org/clinvar/8686 ^@ NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) http://identifiers.org/clinvar/8687 ^@ NM_001887.3(CRYBB1):c.658G>T (p.Gly220Ter) http://identifiers.org/clinvar/8688 ^@ CRYBB1, 1-BP DEL, 168G http://identifiers.org/clinvar/8689 ^@ NM_002843.3(PTPRJ):c.640C>T (p.Arg214Cys) http://identifiers.org/clinvar/8690 ^@ NM_002843.3(PTPRJ):c.827A>C (p.Gln276Pro) http://identifiers.org/clinvar/8691 ^@ NM_005262.2(GFER):c.581G>A (p.Arg194His) http://identifiers.org/clinvar/8692 ^@ PPOX, 1-BP INS, 1022G http://identifiers.org/clinvar/8693 ^@ NM_001122764.1(PPOX):c.694G>C (p.Gly232Arg) http://identifiers.org/clinvar/8694 ^@ NM_001122764.1(PPOX):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/8695 ^@ NM_001122764.1(PPOX):c.59A>C (p.His20Pro) http://identifiers.org/clinvar/8696 ^@ NM_001122764.1(PPOX):c.175C>T (p.Arg59Trp) http://identifiers.org/clinvar/8697 ^@ NM_001122764.1(PPOX):c.503G>A (p.Arg168His) http://identifiers.org/clinvar/8698 ^@ NM_001122764.1(PPOX):c.1046A>C (p.Asp349Ala) http://identifiers.org/clinvar/8699 ^@ PPOX, 2-BP DEL, 537AT http://identifiers.org/clinvar/8700 ^@ PPOX, 5-BP DEL, NT1239 http://identifiers.org/clinvar/8701 ^@ PPOX, 12-BP INS, NT657 http://identifiers.org/clinvar/8702 ^@ PPOX, IVS11DS, G-A, -1 http://identifiers.org/clinvar/8703 ^@ NM_001122764.1(PPOX):c.35T>C (p.Ile12Thr) http://identifiers.org/clinvar/8704 ^@ NM_001122764.1(PPOX):c.767C>G (p.Pro256Arg) http://identifiers.org/clinvar/8705 ^@ NM_002010.2(FGF9):c.296G>A (p.Ser99Asn) http://identifiers.org/clinvar/8706 ^@ NM_002711.3(PPP1R3A):c.2713G>T (p.Asp905Tyr) http://identifiers.org/clinvar/8707 ^@ PPP1R3A, 2-BP DEL, 1985AG http://identifiers.org/clinvar/8708 ^@ PPP1R3, 5-BP INS/DEL, 3-PRIME UTR http://identifiers.org/clinvar/8709 ^@ NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) http://identifiers.org/clinvar/8710 ^@ NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) http://identifiers.org/clinvar/8711 ^@ NG_011708.1:g.11963G>A http://identifiers.org/clinvar/8712 ^@ NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) http://identifiers.org/clinvar/8713 ^@ NM_000232.4(SGCB):c.552T>G (p.Tyr184Ter) http://identifiers.org/clinvar/8714 ^@ SGCB, 8-BP DUP, NT383 http://identifiers.org/clinvar/8715 ^@ SGCB, 2-BP DEL, NT465 http://identifiers.org/clinvar/8716 ^@ NM_000232.4(SGCB):c.272G>C (p.Arg91Pro) http://identifiers.org/clinvar/8717 ^@ NM_000232.4(SGCB):c.323T>G (p.Leu108Arg) http://identifiers.org/clinvar/8718 ^@ NM_000232.4(SGCB):c.299T>A (p.Met100Lys) http://identifiers.org/clinvar/8719 ^@ NM_000232.4(SGCB):c.272G>T (p.Arg91Leu) http://identifiers.org/clinvar/8720 ^@ SGCB, 4-BP DEL, 243+3GAGT http://identifiers.org/clinvar/8721 ^@ NM_005267.4(GJA8):c.262C>T (p.Pro88Ser) http://identifiers.org/clinvar/8722 ^@ NM_005267.4(GJA8):c.142G>A (p.Glu48Lys) http://identifiers.org/clinvar/8723 ^@ NM_005267.4(GJA8):c.741T>G (p.Ile247Met) http://identifiers.org/clinvar/8724 ^@ NM_005267.4(GJA8):c.68G>C (p.Arg23Thr) http://identifiers.org/clinvar/8725 ^@ NM_005267.4(GJA8):c.131T>A (p.Val44Glu) http://identifiers.org/clinvar/8726 ^@ NM_005267.4(GJA8):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/8727 ^@ NM_005267.4(GJA8):c.139G>A (p.Asp47Asn) http://identifiers.org/clinvar/100085 ^@ NM_000182.4(HADHA):c.1528G>C (p.Glu510Gln) http://identifiers.org/clinvar/8729 ^@ NM_000182.4(HADHA):c.1132C>T (p.Gln378Ter) http://identifiers.org/clinvar/8730 ^@ NM_000182.4(HADHA):c.180+1G>A http://identifiers.org/clinvar/8731 ^@ NM_000182.4(HADHA):c.180+3A>G http://identifiers.org/clinvar/8732 ^@ NM_000182.4(HADHA):c.1678C>T (p.Arg560Ter) http://identifiers.org/clinvar/8733 ^@ HADHA, 1-BP INS, 2129C http://identifiers.org/clinvar/8734 ^@ NM_000182.4(HADHA):c.1025T>C (p.Leu342Pro) http://identifiers.org/clinvar/8735 ^@ NM_000182.4(HADHA):c.845T>A (p.Val282Asp) http://identifiers.org/clinvar/8736 ^@ NM_000182.4(HADHA):c.914T>A (p.Ile305Asn) http://identifiers.org/clinvar/8737 ^@ NM_000182.4(HADHA):c.871C>T (p.Arg291Ter) http://identifiers.org/clinvar/8738 ^@ NM_002439.4(MSH3):c.1148delA (p.Lys383Argfs) http://identifiers.org/clinvar/8739 ^@ NM_005263.3(GFI1):c.1145A>G (p.Asn382Ser) http://identifiers.org/clinvar/8740 ^@ NM_005263.3(GFI1):c.1208A>G (p.Lys403Arg) http://identifiers.org/clinvar/8741 ^@ NM_001893.4(CSNK1D):c.130A>G (p.Thr44Ala) http://identifiers.org/clinvar/8742 ^@ NM_004168.3(SDHA):c.1660C>T (p.Arg554Trp) http://identifiers.org/clinvar/8743 ^@ NM_004168.3(SDHA):c.1571C>T (p.Ala524Val) http://identifiers.org/clinvar/8744 ^@ NM_004168.3(SDHA):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/8745 ^@ NM_004168.3(SDHA):c.1664G>A (p.Gly555Glu) http://identifiers.org/clinvar/8746 ^@ NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter) http://identifiers.org/clinvar/8747 ^@ CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG http://identifiers.org/clinvar/8748 ^@ NM_000076.2(CDKN1C):c.310_311delCTinsG (p.Leu104Glyfs) http://identifiers.org/clinvar/8749 ^@ NM_000076.2(CDKN1C):c.740C>A (p.Ser247Ter) http://identifiers.org/clinvar/8750 ^@ NM_002558.3(P2RX1):c.1059_1061delGCT (p.Leu354del) http://identifiers.org/clinvar/8751 ^@ NM_001486.3(GCKR):c.1337T>C (p.Leu446Pro) http://identifiers.org/clinvar/8752 ^@ NM_000338.2(SLC12A1):c.1942G>A (p.Asp648Asn) http://identifiers.org/clinvar/8753 ^@ NM_000338.2(SLC12A1):c.814G>T (p.Val272Phe) http://identifiers.org/clinvar/8754 ^@ NM_000338.2(SLC12A1):c.1875G>A (p.Trp625Ter) http://identifiers.org/clinvar/8755 ^@ NM_000338.2(SLC12A1):c.724+4A>G http://identifiers.org/clinvar/8756 ^@ NM_000338.2(SLC12A1):c.2095delG (p.Asp699Thrfs) http://identifiers.org/clinvar/8757 ^@ NM_003593.2(FOXN1):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/8758 ^@ NM_000514.3(GDNF):c.277C>T (p.Arg93Trp) http://identifiers.org/clinvar/8759 ^@ NM_001190468.1(GDNF):c.499G>A (p.Asp167Asn) http://identifiers.org/clinvar/8760 ^@ NM_000514.3(GDNF):c.460A>T (p.Thr154Ser) http://identifiers.org/clinvar/8761 ^@ NM_000514.3(GDNF):c.633C>G (p.Ile211Met) http://identifiers.org/clinvar/8762 ^@ NM_000609.6(CXCL12):c.266+535G>A http://identifiers.org/clinvar/8763 ^@ NM_006204.3(PDE6C):c.85C>T (p.Arg29Trp) http://identifiers.org/clinvar/8764 ^@ NM_006204.3(PDE6C):c.967T>A (p.Tyr323Asn) http://identifiers.org/clinvar/8765 ^@ NM_006204.3(PDE6C):c.256_257dupAG (p.Leu87Glyfs) http://identifiers.org/clinvar/8766 ^@ NM_006204.3(PDE6C):c.2367+1_2367+5delGTAAG http://identifiers.org/clinvar/8767 ^@ NM_006204.3(PDE6C):c.1363A>G (p.Met455Val) http://identifiers.org/clinvar/8768 ^@ NM_006204.3(PDE6C):c.633G>C (p.Glu211Asp) http://identifiers.org/clinvar/8769 ^@ NM_006204.3(PDE6C):c.2368G>A (p.Glu790Lys) http://identifiers.org/clinvar/8770 ^@ NM_006204.3(PDE6C):c.481-12T>A http://identifiers.org/clinvar/8771 ^@ NM_006204.3(PDE6C):c.1483-2A>G http://identifiers.org/clinvar/8772 ^@ NM_006204.3(PDE6C):c.1805A>T (p.His602Leu) http://identifiers.org/clinvar/8773 ^@ NM_006204.3(PDE6C):c.826C>T (p.Arg276Ter) http://identifiers.org/clinvar/8774 ^@ NM_006204.3(PDE6C):c.2457T>A (p.Tyr819Ter) http://identifiers.org/clinvar/8775 ^@ NM_006204.3(PDE6C):c.1682dupA (p.Tyr561Terfs) http://identifiers.org/clinvar/8776 ^@ NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) http://identifiers.org/clinvar/8777 ^@ NM_003476.4(CSRP3):c.172T>G (p.Cys58Gly) http://identifiers.org/clinvar/8778 ^@ NM_003476.4(CSRP3):c.131T>C (p.Leu44Pro) http://identifiers.org/clinvar/8780 ^@ NM_003476.4(CSRP3):c.206A>G (p.Lys69Arg) http://identifiers.org/clinvar/8781 ^@ NM_003476.4(CSRP3):c.136A>C (p.Ser46Arg) http://identifiers.org/clinvar/8782 ^@ NM_005591.3(MRE11):c.1897C>T (p.Arg633Ter) http://identifiers.org/clinvar/8783 ^@ NM_005591.3(MRE11):c.350A>G (p.Asn117Ser) http://identifiers.org/clinvar/8784 ^@ NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter) http://identifiers.org/clinvar/8785 ^@ NM_005591.3(MRE11):c.1442C>A (p.Thr481Lys) http://identifiers.org/clinvar/8786 ^@ NM_005591.3(MRE11):c.630G>C (p.Trp210Cys) http://identifiers.org/clinvar/8787 ^@ NM_000107.2(DDB2):c.730A>G (p.Lys244Glu) http://identifiers.org/clinvar/8788 ^@ NM_000107.2(DDB2):c.818G>A (p.Arg273His) http://identifiers.org/clinvar/8789 ^@ NM_000107.2(DDB2):c.937C>T (p.Arg313Ter) http://identifiers.org/clinvar/8790 ^@ NM_000107.2(DDB2):c.919G>T (p.Asp307Tyr) http://identifiers.org/clinvar/8791 ^@ LAMA3, 1-BP DEL, 300G http://identifiers.org/clinvar/8792 ^@ NM_198129.2(LAMA3):c.6808C>T (p.Arg2270Ter) http://identifiers.org/clinvar/8793 ^@ NM_198129.2(LAMA3):c.8962C>T (p.Gln2988Ter) http://identifiers.org/clinvar/8794 ^@ LAMA3, 1-BP INS, 151G http://identifiers.org/clinvar/8795 ^@ BMPR2, 1-BP DEL, 2579T http://identifiers.org/clinvar/8796 ^@ NM_001204.6(BMPR2):c.2695C>T (p.Arg899Ter) http://identifiers.org/clinvar/8797 ^@ NM_001204.6(BMPR2):c.218C>G (p.Ser73Ter) http://identifiers.org/clinvar/8798 ^@ BMPR2, 1-BP DEL, 355A http://identifiers.org/clinvar/8799 ^@ NM_001204.6(BMPR2):c.354T>G (p.Cys118Trp) http://identifiers.org/clinvar/8800 ^@ NM_001204.6(BMPR2):c.1040G>A (p.Cys347Tyr) http://identifiers.org/clinvar/8801 ^@ NM_001204.6(BMPR2):c.1454A>G (p.Asp485Gly) http://identifiers.org/clinvar/8802 ^@ NM_001204.6(BMPR2):c.1471C>T (p.Arg491Trp) http://identifiers.org/clinvar/8803 ^@ BMPR2, 5-BP DEL, NT1099 http://identifiers.org/clinvar/8804 ^@ NM_001204.6(BMPR2):c.507C>A (p.Cys169Ter) http://identifiers.org/clinvar/8805 ^@ NM_001204.6(BMPR2):c.2617C>T (p.Arg873Ter) http://identifiers.org/clinvar/8806 ^@ NM_001204.6(BMPR2):c.1472G>A (p.Arg491Gln) http://identifiers.org/clinvar/8807 ^@ BMPR2, 2-BP DEL, 1-BP INS, NT690 http://identifiers.org/clinvar/8808 ^@ NM_001204.6(BMPR2):c.367T>C (p.Cys123Arg) http://identifiers.org/clinvar/8809 ^@ NM_001204.6(BMPR2):c.367T>A (p.Cys123Ser) http://identifiers.org/clinvar/8810 ^@ NM_001204.6(BMPR2):c.994C>T (p.Arg332Ter) http://identifiers.org/clinvar/8811 ^@ NM_001204.6(BMPR2):c.2696G>C (p.Arg899Pro) http://identifiers.org/clinvar/8812 ^@ NM_001204.6(BMPR2):c.631C>T (p.Arg211Ter) http://identifiers.org/clinvar/8813 ^@ NM_001204.6(BMPR2):c.545G>A (p.Gly182Asp) http://identifiers.org/clinvar/8814 ^@ NM_001204.6(BMPR2):c.44delC (p.Pro15Hisfs) http://identifiers.org/clinvar/8815 ^@ NM_001204.6(BMPR2):c.120T>G (p.Tyr40Ter) http://identifiers.org/clinvar/8816 ^@ NM_001204.6(BMPR2):c.77-?_247+?del http://identifiers.org/clinvar/8817 ^@ BMPR2, EX10DEL http://identifiers.org/clinvar/8818 ^@ BMPR2, EX1-13DEL http://identifiers.org/clinvar/8819 ^@ NM_001204.6(BMPR2):c.1297C>T (p.Gln433Ter) http://identifiers.org/clinvar/8820 ^@ NM_003749.2(IRS2):c.3170G>A (p.Gly1057Asp) http://identifiers.org/clinvar/8821 ^@ NM_003749.2(IRS2):c.1939C>G (p.Leu647Val) http://identifiers.org/clinvar/8822 ^@ NM_004160.5(PYY):c.185A>C (p.Gln62Pro) http://identifiers.org/clinvar/8823 ^@ NM_004064.4(CDKN1B):c.227G>A (p.Trp76Ter) http://identifiers.org/clinvar/8824 ^@ NM_001039.3(SCNN1G):c.1718G>A (p.Trp573Ter) http://identifiers.org/clinvar/8825 ^@ SCNN1G, IVS11, G-A, -1 http://identifiers.org/clinvar/8826 ^@ SCNN1G, IVSAAS, G-A, -1 http://identifiers.org/clinvar/8827 ^@ SCNN1G, 1-BP DEL, 1627G http://identifiers.org/clinvar/8828 ^@ NM_001039.3(SCNN1G):c.547G>A (p.Gly183Ser) http://identifiers.org/clinvar/8829 ^@ NM_001039.3(SCNN1G):c.589G>A (p.Glu197Lys) http://identifiers.org/clinvar/8830 ^@ NM_000336.2(SCNN1B):c.1696C>T (p.Arg566Ter) http://identifiers.org/clinvar/8831 ^@ NM_000336.2(SCNN1B):c.1847C>T (p.Pro616Leu) http://identifiers.org/clinvar/8832 ^@ NM_000336.2(SCNN1B):c.109G>A (p.Gly37Ser) http://identifiers.org/clinvar/8833 ^@ NM_000336.2(SCNN1B):c.1858T>C (p.Tyr620His) http://identifiers.org/clinvar/8834 ^@ SCNN1B, 1-BP INS, 592C http://identifiers.org/clinvar/8835 ^@ SCNN1B, 32-BP DEL http://identifiers.org/clinvar/8836 ^@ NM_000336.2(SCNN1B):c.1849C>T (p.Pro617Ser) http://identifiers.org/clinvar/8837 ^@ NM_000336.2(SCNN1B):c.1847C>G (p.Pro616Arg) http://identifiers.org/clinvar/8838 ^@ NM_000336.2(SCNN1B):c.800C>T (p.Pro267Leu) http://identifiers.org/clinvar/8839 ^@ SCNN1B, IVS12AS, A-G, -2 http://identifiers.org/clinvar/8840 ^@ NM_000336.2(SCNN1B):c.880G>A (p.Gly294Ser) http://identifiers.org/clinvar/8841 ^@ NM_000336.2(SCNN1B):c.1615G>A (p.Glu539Lys) http://identifiers.org/clinvar/8842 ^@ NM_000336.2(SCNN1B):c.1105C>A (p.Pro369Thr) http://identifiers.org/clinvar/8843 ^@ NM_000336.2(SCNN1B):c.863A>G (p.Asn288Ser) http://identifiers.org/clinvar/8844 ^@ NM_000336.2(SCNN1B):c.245C>G (p.Ser82Cys) http://identifiers.org/clinvar/8845 ^@ NM_000447.2(PSEN2):c.422A>T (p.Asn141Ile) http://identifiers.org/clinvar/8846 ^@ NM_000447.2(PSEN2):c.715A>G (p.Met239Val) http://identifiers.org/clinvar/8847 ^@ NM_000447.2(PSEN2):c.1316A>C (p.Asp439Ala) http://identifiers.org/clinvar/8848 ^@ NM_000447.2(PSEN2):c.1289C>T (p.Thr430Met) http://identifiers.org/clinvar/8849 ^@ NM_000447.2(PSEN2):c.364A>C (p.Thr122Pro) http://identifiers.org/clinvar/8850 ^@ NM_000447.2(PSEN2):c.717G>A (p.Met239Ile) http://identifiers.org/clinvar/8851 ^@ NM_000447.2(PSEN2):c.365C>G (p.Thr122Arg) http://identifiers.org/clinvar/8852 ^@ NM_000447.2(PSEN2):c.389C>T (p.Ser130Leu) http://identifiers.org/clinvar/8853 ^@ NM_000447.2(PSEN2):c.254C>T (p.Ala85Val) http://identifiers.org/clinvar/8854 ^@ CEBPE, 5-BP DEL, NT224 http://identifiers.org/clinvar/8855 ^@ CEBPE, 1-BP INS, 1113A http://identifiers.org/clinvar/8856 ^@ NM_000890.3(KCNJ5):c.1159G>C (p.Gly387Arg) http://identifiers.org/clinvar/8857 ^@ PDX1, 1-BP DEL, 188C http://identifiers.org/clinvar/8858 ^@ NM_000209.3(PDX1):c.590G>A (p.Arg197His) http://identifiers.org/clinvar/8859 ^@ NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) http://identifiers.org/clinvar/8860 ^@ NM_000209.3(PDX1):c.176A>T (p.Gln59Leu) http://identifiers.org/clinvar/8861 ^@ PDX1, 3-BP INS, 243CCG http://identifiers.org/clinvar/8862 ^@ NM_000209.3(PDX1):c.52T>C (p.Cys18Arg) http://identifiers.org/clinvar/8863 ^@ NM_000209.3(PDX1):c.670G>A (p.Glu224Lys) http://identifiers.org/clinvar/8864 ^@ NM_000209.3(PDX1):c.492G>T (p.Glu164Asp) http://identifiers.org/clinvar/8865 ^@ NM_000209.3(PDX1):c.532G>A (p.Glu178Lys) http://identifiers.org/clinvar/8866 ^@ NM_002181.3(IHH):c.283G>A (p.Glu95Lys) http://identifiers.org/clinvar/8867 ^@ NM_002181.3(IHH):c.391G>A (p.Glu131Lys) http://identifiers.org/clinvar/8868 ^@ NM_002181.3(IHH):c.300C>A (p.Asp100Glu) http://identifiers.org/clinvar/8869 ^@ NM_002181.3(IHH):c.298G>A (p.Asp100Asn) http://identifiers.org/clinvar/8870 ^@ NM_002181.3(IHH):c.137C>T (p.Pro46Leu) http://identifiers.org/clinvar/8871 ^@ NM_002181.3(IHH):c.569T>C (p.Val190Ala) http://identifiers.org/clinvar/8872 ^@ NM_002181.3(IHH):c.284A>G (p.Glu95Gly) http://identifiers.org/clinvar/8873 ^@ NM_002181.3(IHH):c.461C>T (p.Thr154Ile) http://identifiers.org/clinvar/8874 ^@ IHH, 3-BP DEL, 283GAG http://identifiers.org/clinvar/8875 ^@ NM_002181.3(IHH):c.383G>A (p.Arg128Gln) http://identifiers.org/clinvar/8876 ^@ NM_002181.3(IHH):c.389C>A (p.Thr130Asn) http://identifiers.org/clinvar/8877 ^@ NM_000193.3(SHH):c.91G>A (p.Gly31Arg) http://identifiers.org/clinvar/8878 ^@ NM_000193.3(SHH):c.298C>T (p.Gln100Ter) http://identifiers.org/clinvar/8879 ^@ NM_000193.3(SHH):c.313A>T (p.Lys105Ter) http://identifiers.org/clinvar/8880 ^@ NM_000193.3(SHH):c.349T>G (p.Trp117Gly) http://identifiers.org/clinvar/8881 ^@ NM_000193.3(SHH):c.349T>C (p.Trp117Arg) http://identifiers.org/clinvar/8882 ^@ NM_000193.3(SHH):c.671T>A (p.Val224Glu) http://identifiers.org/clinvar/8883 ^@ NM_000193.3(SHH):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/8884 ^@ NM_000193.3(SHH):c.788_808del21 (p.Arg263_Ala269del) http://identifiers.org/clinvar/8885 ^@ NM_000193.3(SHH):c.850G>T (p.Glu284Ter) http://identifiers.org/clinvar/8886 ^@ NM_000193.3(SHH):c.1147G>A (p.Ala383Thr) http://identifiers.org/clinvar/8887 ^@ NM_000193.3(SHH):c.869G>A (p.Gly290Asp) http://identifiers.org/clinvar/8888 ^@ NM_000193.3(SHH):c.1270C>G (p.Pro424Ala) http://identifiers.org/clinvar/8889 ^@ NM_000193.3(SHH):c.1132_1140delGCGCCCTTC (p.Ala378_Phe380del) http://identifiers.org/clinvar/8890 ^@ NM_000193.3(SHH):c.331A>T (p.Ile111Phe) http://identifiers.org/clinvar/8891 ^@ NM_000193.3(SHH):c.263A>T (p.Asp88Val) http://identifiers.org/clinvar/8892 ^@ SHH, 24-BP DEL, NT1353 http://identifiers.org/clinvar/8893 ^@ NM_000193.3(SHH):c.766G>T (p.Glu256Ter) http://identifiers.org/clinvar/8894 ^@ NM_000193.3(SHH):c.995T>C (p.Val332Ala) http://identifiers.org/clinvar/8895 ^@ NM_000193.3(SHH):c.383G>A (p.Trp128Ter) http://identifiers.org/clinvar/8896 ^@ NM_000193.3(SHH):c.345C>A (p.Asn115Lys) http://identifiers.org/clinvar/8897 ^@ NM_001297.4(CNGB1):c.2978G>T (p.Gly993Val) http://identifiers.org/clinvar/8898 ^@ CNGB1, IVS32DS, G-A, +1 http://identifiers.org/clinvar/8899 ^@ NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) http://identifiers.org/clinvar/8900 ^@ NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) http://identifiers.org/clinvar/8901 ^@ NM_000310.3(PPT1):c.236A>G (p.Asp79Gly) http://identifiers.org/clinvar/8902 ^@ NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) http://identifiers.org/clinvar/8903 ^@ NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) http://identifiers.org/clinvar/8904 ^@ NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) http://identifiers.org/clinvar/8905 ^@ PPT1, 1-BP INS, 169A http://identifiers.org/clinvar/8906 ^@ PPT1, 451C-T http://identifiers.org/clinvar/8907 ^@ NM_000310.3(PPT1):c.322G>C (p.Gly108Arg) http://identifiers.org/clinvar/8908 ^@ NM_000310.3(PPT1):c.134G>A (p.Cys45Tyr) http://identifiers.org/clinvar/8909 ^@ NM_015967.6(PTPN22):c.1858C>T (p.Arg620Trp) http://identifiers.org/clinvar/8910 ^@ PTPN22, -1123, C-G http://identifiers.org/clinvar/375731 ^@ NM_181755.2(HSD11B1):c.331+53dupA http://identifiers.org/clinvar/8912 ^@ NM_014191.3(SCN8A):c.5156_5157delCT (p.Pro1719Argfs) http://identifiers.org/clinvar/8913 ^@ NM_006757.3(TNNT3):c.188G>A (p.Arg63His) http://identifiers.org/clinvar/8914 ^@ NM_003051.3(SLC16A1):c.610A>G (p.Lys204Glu) http://identifiers.org/clinvar/8915 ^@ NM_003051.3(SLC16A1):c.1414G>A (p.Gly472Arg) http://identifiers.org/clinvar/8916 ^@ NM_003051.3(SLC16A1):c.-202G>A http://identifiers.org/clinvar/8917 ^@ NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG http://identifiers.org/clinvar/8918 ^@ NM_000891.2(KCNJ2):c.212A>T (p.Asp71Val) http://identifiers.org/clinvar/8919 ^@ NM_000891.2(KCNJ2):c.652C>T (p.Arg218Trp) http://identifiers.org/clinvar/8920 ^@ NM_000891.2(KCNJ2):c.899G>T (p.Gly300Val) http://identifiers.org/clinvar/8921 ^@ KCNJ2, 12-BP DEL, NT513 http://identifiers.org/clinvar/8922 ^@ KCNJ2, 6-BP DEL, NT1167 http://identifiers.org/clinvar/8923 ^@ NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp) http://identifiers.org/clinvar/8924 ^@ NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu) http://identifiers.org/clinvar/8925 ^@ NM_000891.2(KCNJ2):c.904G>A (p.Val302Met) http://identifiers.org/clinvar/8926 ^@ NM_000891.2(KCNJ2):c.646A>C (p.Asn216His) http://identifiers.org/clinvar/8927 ^@ NM_000891.2(KCNJ2):c.514G>A (p.Asp172Asn) http://identifiers.org/clinvar/8928 ^@ NM_000891.2(KCNJ2):c.224C>G (p.Thr75Arg) http://identifiers.org/clinvar/8929 ^@ MSH6, 1-BP DEL, LEU222TER http://identifiers.org/clinvar/8930 ^@ MSH6, 1-BP DEL, 594T http://identifiers.org/clinvar/8931 ^@ NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) http://identifiers.org/clinvar/8932 ^@ NM_000179.2(MSH6):c.651dupT (p.Lys218Terfs) http://identifiers.org/clinvar/8933 ^@ NM_000179.2(MSH6):c.1602delC (p.Tyr535Thrfs) http://identifiers.org/clinvar/8936 ^@ MSH6, 13-KB DEL http://identifiers.org/clinvar/8937 ^@ NM_000179.2(MSH6):c.1573_3439-429dupinsTAT http://identifiers.org/clinvar/8938 ^@ MSH6, TRP1024TER http://identifiers.org/clinvar/8939 ^@ MSH6, 3-BP DEL, NT3609 http://identifiers.org/clinvar/8941 ^@ NM_000179.2(MSH6):c.3633dupT (p.Val1212Cysfs) http://identifiers.org/clinvar/8942 ^@ MSH6, 1-BP INS, 1596T http://identifiers.org/clinvar/8943 ^@ MSH6, 1-BP DEL, 3261C http://identifiers.org/clinvar/8944 ^@ NM_001100119.1(XRCC3):c.722C>T (p.Thr241Met) http://identifiers.org/clinvar/8945 ^@ XRCC3, IVS5, A-G, -14 http://identifiers.org/clinvar/8946 ^@ NM_001278.4(CHUK):c.1264C>T (p.Gln422Ter) http://identifiers.org/clinvar/8947 ^@ NM_001131005.2(MEF2C):c.677C>G (p.Ser226Ter) http://identifiers.org/clinvar/8948 ^@ MEF2A, 21-BP DEL http://identifiers.org/clinvar/8949 ^@ NM_005587.3(MEF2A):c.836C>T (p.Pro279Leu) http://identifiers.org/clinvar/8950 ^@ NM_005587.3(MEF2A):c.788A>G (p.Asn263Ser) http://identifiers.org/clinvar/8951 ^@ NM_005587.3(MEF2A):c.848G>A (p.Gly283Asp) http://identifiers.org/clinvar/8952 ^@ NM_000098.2(CPT2):c.1891C>T (p.Arg631Cys) http://identifiers.org/clinvar/8953 ^@ NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) http://identifiers.org/clinvar/8954 ^@ NM_000098.2(CPT2):c.149C>A (p.Pro50His) http://identifiers.org/clinvar/8955 ^@ NM_000098.2(CPT2):c.1657G>A (p.Asp553Asn) http://identifiers.org/clinvar/8956 ^@ NM_000098.2(CPT2):c.1883A>C (p.Tyr628Ser) http://identifiers.org/clinvar/8957 ^@ NM_000098.2(CPT2):c.520G>A (p.Glu174Lys) http://identifiers.org/clinvar/8958 ^@ NM_000098.2(CPT2):c.1148T>A (p.Phe383Tyr) http://identifiers.org/clinvar/8959 ^@ NM_000098.2(CPT2):c.1507C>T (p.Arg503Cys) http://identifiers.org/clinvar/8960 ^@ NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu) http://identifiers.org/clinvar/8961 ^@ CPT2, 1-BP INS/25-BP DEL, NT534 http://identifiers.org/clinvar/8962 ^@ CPT2, IVS2AS, G-A, -1 http://identifiers.org/clinvar/8963 ^@ CPT2, 11-BP DUP, NT997 http://identifiers.org/clinvar/8964 ^@ NM_000098.2(CPT2):c.680C>T (p.Pro227Leu) http://identifiers.org/clinvar/8965 ^@ CPT2, 3-BP DEL/5-BP INS, NT109 http://identifiers.org/clinvar/8966 ^@ NM_000098.2(CPT2):c.1360G>T (p.Glu454Ter) http://identifiers.org/clinvar/8967 ^@ NM_000098.2(CPT2):c.638A>G (p.Asp213Gly) http://identifiers.org/clinvar/8968 ^@ NM_000098.2(CPT2):c.359A>G (p.Tyr120Cys) http://identifiers.org/clinvar/8969 ^@ NM_203285.1(NECTIN1):c.554G>A (p.Trp185Ter) http://identifiers.org/clinvar/8970 ^@ NM_203285.1(NECTIN1):c.556delG (p.Glu186Lysfs) http://identifiers.org/clinvar/8971 ^@ NM_203285.1(NECTIN1):c.969dupT (p.Thr324Tyrfs) http://identifiers.org/clinvar/8972 ^@ NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del http://identifiers.org/clinvar/8973 ^@ NM_001079668.2(NKX2-1):c.727C>A (p.Arg243Ser) http://identifiers.org/clinvar/8974 ^@ NM_001079668.2(NKX2-1):c.713G>T (p.Trp238Leu) http://identifiers.org/clinvar/8975 ^@ NM_001079668.2(NKX2-1):c.908delG (p.Gly303Valfs) http://identifiers.org/clinvar/8976 ^@ NM_001079668.2(NKX2-1):c.703G>T (p.Val235Phe) http://identifiers.org/clinvar/8977 ^@ NM_001079668.2(NKX2-1):c.672_673dupGG (p.Ala225Glyfs) http://identifiers.org/clinvar/8978 ^@ NM_001079668.2(NKX2-1):c.464-2A>T http://identifiers.org/clinvar/8979 ^@ NM_001079668.2(NKX2-1):c.613G>T (p.Glu205Ter) http://identifiers.org/clinvar/8980 ^@ NM_001079668.2(NKX2-1):c.745C>T (p.Gln249Ter) http://identifiers.org/clinvar/8981 ^@ NM_003317.3(NKX2-1):c.254dupG (p.Tyr86Leufs) http://identifiers.org/clinvar/8982 ^@ NM_001079668.2(NKX2-1):c.464-2A>G http://identifiers.org/clinvar/8983 ^@ NM_001012393.2(OPCML):c.263C>G (p.Pro88Arg) http://identifiers.org/clinvar/8984 ^@ NM_001987.4(ETV6):c.226G>T (p.Glu76Ter) http://identifiers.org/clinvar/8985 ^@ NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) http://identifiers.org/clinvar/8986 ^@ STAR, IVS4AS, T-A, -11 http://identifiers.org/clinvar/8987 ^@ NM_000349.2(STAR):c.772C>T (p.Gln258Ter) http://identifiers.org/clinvar/8988 ^@ NM_000349.2(STAR):c.545G>T (p.Arg182Leu) http://identifiers.org/clinvar/8989 ^@ STAR, 1-BP DEL, 261T http://identifiers.org/clinvar/8990 ^@ STAR, IVS2, 1-BP INS, T, +3 http://identifiers.org/clinvar/8991 ^@ NM_000349.2(STAR):c.749G>A (p.Trp250Ter) http://identifiers.org/clinvar/8992 ^@ NM_000349.2(STAR):c.650G>C (p.Arg217Thr) http://identifiers.org/clinvar/8993 ^@ NM_000349.2(STAR):c.653C>T (p.Ala218Val) http://identifiers.org/clinvar/8994 ^@ STAR, IVS1, G-T, +1 http://identifiers.org/clinvar/8995 ^@ NM_000349.2(STAR):c.545G>A (p.Arg182His) http://identifiers.org/clinvar/8996 ^@ NM_000349.2(STAR):c.559G>A (p.Val187Met) http://identifiers.org/clinvar/8997 ^@ NM_000349.2(STAR):c.562C>T (p.Arg188Cys) http://identifiers.org/clinvar/8998 ^@ STAR, 2-BP DEL, 201CT http://identifiers.org/clinvar/8999 ^@ NM_006563.4(KLF1):c.954dupG (p.Arg319Glufs) http://identifiers.org/clinvar/9000 ^@ KLF1, 1-BP DEL, 569C http://identifiers.org/clinvar/9001 ^@ NM_006563.4(KLF1):c.874A>T (p.Lys292Ter) http://identifiers.org/clinvar/9002 ^@ NM_006563.4(KLF1):c.895C>T (p.His299Tyr) http://identifiers.org/clinvar/9003 ^@ NM_006563.4(KLF1):c.862A>T (p.Lys288Ter) http://identifiers.org/clinvar/9004 ^@ NM_004387.3(NKX2-5):c.533C>T (p.Thr178Met) http://identifiers.org/clinvar/9005 ^@ NM_004387.3(NKX2-5):c.508C>T (p.Gln170Ter) http://identifiers.org/clinvar/9006 ^@ NM_004387.3(NKX2-5):c.592C>T (p.Gln198Ter) http://identifiers.org/clinvar/9007 ^@ NKX2-5, IVS1DS, G-T, +1 http://identifiers.org/clinvar/9008 ^@ NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys) http://identifiers.org/clinvar/9009 ^@ NM_004387.3(NKX2-5):c.61G>C (p.Glu21Gln) http://identifiers.org/clinvar/9010 ^@ NM_004387.3(NKX2-5):c.646C>T (p.Arg216Cys) http://identifiers.org/clinvar/9011 ^@ NM_004387.3(NKX2-5):c.656C>T (p.Ala219Val) http://identifiers.org/clinvar/9012 ^@ NM_004387.3(NKX2-5):c.215_221delAGCTGGG (p.Glu72Alafs) http://identifiers.org/clinvar/9013 ^@ NM_004387.3(NKX2-5):c.228_229delGC (p.Pro77Phefs) http://identifiers.org/clinvar/9014 ^@ NM_004387.3(NKX2-5):c.896A>G (p.Asp299Gly) http://identifiers.org/clinvar/9015 ^@ NM_004387.3(NKX2-5):c.262delG (p.Ala88Profs) http://identifiers.org/clinvar/9016 ^@ NM_004387.3(NKX2-5):c.568C>T (p.Arg190Cys) http://identifiers.org/clinvar/9017 ^@ NM_004387.3(NKX2-5):c.768T>A (p.Tyr256Ter) http://identifiers.org/clinvar/9018 ^@ NM_004387.3(NKX2-5):c.355G>T (p.Ala119Ser) http://identifiers.org/clinvar/9019 ^@ NM_004387.3(NKX2-5):c.482G>C (p.Arg161Pro) http://identifiers.org/clinvar/9020 ^@ NM_004387.3(NKX2-5):c.547A>G (p.Lys183Glu) http://identifiers.org/clinvar/9021 ^@ NM_178138.5(LHX3):c.332A>G (p.Tyr111Cys) http://identifiers.org/clinvar/9022 ^@ NM_178138.5(LHX3):c.452_454+20del23 http://identifiers.org/clinvar/9023 ^@ NM_178138.5(LHX3):c.96delT (p.Gly33Alafs) http://identifiers.org/clinvar/9024 ^@ NM_178138.5(LHX3):c.629C>T (p.Ala210Val) http://identifiers.org/clinvar/9025 ^@ NM_178138.5(LHX3):c.287_288delGCinsTCCT (p.Gly96Valfs) http://identifiers.org/clinvar/9026 ^@ NC_000009.12:g.(?_136197325)_(136205012_?)del http://identifiers.org/clinvar/9027 ^@ NM_178138.5(LHX3):c.672G>A (p.Trp224Ter) http://identifiers.org/clinvar/9028 ^@ NG_008097.1:g.8826_11912del3087 http://identifiers.org/clinvar/9029 ^@ NM_178138.5(LHX3):c.133A>T (p.Lys45Ter) http://identifiers.org/clinvar/9030 ^@ NM_002052.4(GATA4):c.886G>A (p.Gly296Ser) http://identifiers.org/clinvar/9031 ^@ GATA4, 1-BP DEL, 1075G http://identifiers.org/clinvar/9032 ^@ NM_002052.4(GATA4):c.155C>T (p.Ser52Phe) http://identifiers.org/clinvar/9033 ^@ NM_002052.4(GATA4):c.946C>G (p.Gln316Glu) http://identifiers.org/clinvar/9034 ^@ NM_002052.4(GATA4):c.1273G>A (p.Asp425Asn) http://identifiers.org/clinvar/9035 ^@ NM_004366.5(CLCN2):c.597dupG (p.Met200Aspfs) http://identifiers.org/clinvar/9036 ^@ NM_004366.5(CLCN2):c.221-14_221-4delTTCCCTGCACC http://identifiers.org/clinvar/9037 ^@ NM_004366.5(CLCN2):c.2144G>A (p.Gly715Glu) http://identifiers.org/clinvar/9038 ^@ NM_004366.5(CLCN2):c.704G>A (p.Arg235Gln) http://identifiers.org/clinvar/9039 ^@ NM_004366.5(CLCN2):c.1730G>A (p.Arg577Gln) http://identifiers.org/clinvar/9040 ^@ NRXN1, 180-KB DEL, EX1-4 http://identifiers.org/clinvar/9041 ^@ NM_001135659.2(NRXN1):c.3056C>G (p.Ser1019Ter) http://identifiers.org/clinvar/9042 ^@ ITIH4, IVS17, +8, C-T http://identifiers.org/clinvar/9043 ^@ NM_007315.3(STAT1):c.2117T>C (p.Leu706Ser) http://identifiers.org/clinvar/9044 ^@ NM_007315.3(STAT1):c.1760_1761delAG (p.Glu587Alafs) http://identifiers.org/clinvar/9045 ^@ NM_007315.3(STAT1):c.1799T>C (p.Leu600Pro) http://identifiers.org/clinvar/9046 ^@ NM_007315.3(STAT1):c.1389G>T (p.Gln463His) http://identifiers.org/clinvar/9047 ^@ NM_007315.3(STAT1):c.958G>C (p.Glu320Gln) http://identifiers.org/clinvar/9048 ^@ NM_007315.3(STAT1):c.1927dupA (p.Thr643Asnfs) http://identifiers.org/clinvar/9049 ^@ ITGA7, IVSAS, A-G, -2 http://identifiers.org/clinvar/9050 ^@ ITGA7, IVSDS, T-C, +2 http://identifiers.org/clinvar/9051 ^@ ITGA7, 1-BP DEL, 1204G http://identifiers.org/clinvar/9052 ^@ NM_020335.2(VANGL2):c.1057C>T (p.Arg353Cys) http://identifiers.org/clinvar/9053 ^@ NM_020335.2(VANGL2):c.1310T>C (p.Phe437Ser) http://identifiers.org/clinvar/9054 ^@ NM_021074.4(NDUFV2):c.86T>C (p.Val29Ala) http://identifiers.org/clinvar/9055 ^@ NDUFV2, 4-BP DEL, NT5 http://identifiers.org/clinvar/9056 ^@ NM_001698.2(AUH):c.589C>T (p.Arg197Ter) http://identifiers.org/clinvar/9057 ^@ NM_001698.2(AUH):c.895-1G>A http://identifiers.org/clinvar/9058 ^@ NM_001698.2(AUH):c.80delG (p.Ser27Metfs) http://identifiers.org/clinvar/9059 ^@ NM_001698.2(AUH):c.263-2A>G http://identifiers.org/clinvar/9060 ^@ NM_001698.2(AUH):c.943-2A>G http://identifiers.org/clinvar/9061 ^@ NM_001876.3(CPT1A):c.1361A>G (p.Asp454Gly) http://identifiers.org/clinvar/9062 ^@ NM_001876.3(CPT1A):c.1079A>G (p.Glu360Gly) http://identifiers.org/clinvar/9063 ^@ NM_001876.3(CPT1A):c.298C>T (p.Gln100Ter) http://identifiers.org/clinvar/9064 ^@ NG_011801.1:g.72149_72150delTT http://identifiers.org/clinvar/9065 ^@ NM_001876.3(CPT1A):c.1241C>T (p.Ala414Val) http://identifiers.org/clinvar/9066 ^@ NM_001876.3(CPT1A):c.1493A>G (p.Tyr498Cys) http://identifiers.org/clinvar/9067 ^@ NM_001876.3(CPT1A):c.1876-1G>A (p.Val626_Glu676del) http://identifiers.org/clinvar/9068 ^@ NM_001876.3(CPT1A):c.(?_1744)_2107del (p.(?)) http://identifiers.org/clinvar/9069 ^@ NM_001876.3(CPT1A):c.2126G>A (p.Gly709Glu) http://identifiers.org/clinvar/9070 ^@ NM_001031847.2(CPT1A):c.948delG (p.Ile317Serfs) http://identifiers.org/clinvar/9071 ^@ NM_001876.3(CPT1A):c.2129G>A (p.Gly710Glu) http://identifiers.org/clinvar/9072 ^@ NM_005220.2(DLX3):c.571_574delGGGG (p.Gly191Argfs) http://identifiers.org/clinvar/9073 ^@ NM_005220.2(DLX3):c.561_562delCT (p.Tyr188Glnfs) http://identifiers.org/clinvar/9074 ^@ NM_001174125.1(SLC11A2):c.1284G>C (p.Glu428Asp) http://identifiers.org/clinvar/9075 ^@ SLC11A2, 3-BP DEL, 310CTT http://identifiers.org/clinvar/9076 ^@ NM_001174125.1(SLC11A2):c.1333C>T (p.Arg445Cys) http://identifiers.org/clinvar/9077 ^@ SLC11A2, 3-BP DEL, 428GTG http://identifiers.org/clinvar/9078 ^@ NM_001174125.1(SLC11A2):c.722G>T (p.Gly241Val) http://identifiers.org/clinvar/9079 ^@ NM_024420.2(PLA2G4A):c.331T>C (p.Ser111Pro) http://identifiers.org/clinvar/9080 ^@ NM_024420.2(PLA2G4A):c.1454G>A (p.Arg485His) http://identifiers.org/clinvar/9081 ^@ P2RY12, 2-BP DEL, CA, CODON 240 http://identifiers.org/clinvar/9082 ^@ NM_022788.4(P2RY12):c.767G>A (p.Arg256Gln) http://identifiers.org/clinvar/9083 ^@ NM_022788.4(P2RY12):c.793C>T (p.Arg265Trp) http://identifiers.org/clinvar/9084 ^@ RELN, IVS37AS, G-A, -1 http://identifiers.org/clinvar/9085 ^@ RELN, 148-BP DEL http://identifiers.org/clinvar/9086 ^@ NM_001287174.1(ABCC8):c.4310G>A (p.Arg1437Gln) http://identifiers.org/clinvar/9088 ^@ NM_001287174.1(ABCC8):c.3992-9G>A http://identifiers.org/clinvar/9089 ^@ ABCC8, GLY1401ARG http://identifiers.org/clinvar/9090 ^@ ABCC8, IVS, G-A, -1 http://identifiers.org/clinvar/9091 ^@ ABCC8, BRANCH POINT, A-G, -20 http://identifiers.org/clinvar/9093 ^@ ABCC8, EX35, G-A http://identifiers.org/clinvar/9094 ^@ NM_001287174.1(ABCC8):c.4058G>C (p.Arg1353Pro) http://identifiers.org/clinvar/9095 ^@ NM_001287174.1(ABCC8):c.4261C>T (p.Arg1421Cys) http://identifiers.org/clinvar/9096 ^@ NM_000352.4(ABCC8):c.4477C>T (p.Arg1493Trp) http://identifiers.org/clinvar/9097 ^@ NM_001287174.1(ABCC8):c.4519G>A (p.Glu1507Lys) http://identifiers.org/clinvar/9098 ^@ NM_001287174.1(ABCC8):c.4058G>A (p.Arg1353His) http://identifiers.org/clinvar/9099 ^@ NM_000352.4(ABCC8):c.560T>A (p.Val187Asp) http://identifiers.org/clinvar/9100 ^@ NM_001287174.1(ABCC8):c.4159_4161delTCC (p.Ser1387del) http://identifiers.org/clinvar/9101 ^@ ABCC8, -64C-G http://identifiers.org/clinvar/9102 ^@ NM_000352.4(ABCC8):c.394T>C (p.Phe132Leu) http://identifiers.org/clinvar/9103 ^@ NM_000352.4(ABCC8):c.638T>G (p.Leu213Arg) http://identifiers.org/clinvar/9104 ^@ NM_000352.4(ABCC8):c.4270A>G (p.Ile1424Val) http://identifiers.org/clinvar/9105 ^@ NM_001287174.1(ABCC8):c.4138C>T (p.Arg1380Cys) http://identifiers.org/clinvar/9106 ^@ NM_001287174.1(ABCC8):c.1744C>G (p.Leu582Val) http://identifiers.org/clinvar/9107 ^@ NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser) http://identifiers.org/clinvar/9108 ^@ NM_000352.4(ABCC8):c.1144G>A (p.Glu382Lys) http://identifiers.org/clinvar/9109 ^@ NM_000352.4(ABCC8):c.3554C>A (p.Ser1185Tyr) http://identifiers.org/clinvar/9110 ^@ NM_001287174.1(ABCC8):c.134C>T (p.Pro45Leu) http://identifiers.org/clinvar/9111 ^@ NM_000352.4(ABCC8):c.257T>G (p.Val86Gly) http://identifiers.org/clinvar/9112 ^@ NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) http://identifiers.org/clinvar/9113 ^@ NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) http://identifiers.org/clinvar/9114 ^@ NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) http://identifiers.org/clinvar/9115 ^@ NM_002180.2(IGHMBP2):c.121C>T (p.Gln41Ter) http://identifiers.org/clinvar/9116 ^@ NM_002180.2(IGHMBP2):c.675delT (p.Glu226Argfs) http://identifiers.org/clinvar/9117 ^@ NM_002180.2(IGHMBP2):c.707T>G (p.Leu236Ter) http://identifiers.org/clinvar/9118 ^@ NM_002180.2(IGHMBP2):c.2611+1G>T http://identifiers.org/clinvar/9119 ^@ NM_002180.2(IGHMBP2):c.1107C>G (p.Phe369Leu) http://identifiers.org/clinvar/9120 ^@ NG_007976.1:g.(7904_7936)_(26407_26439)del http://identifiers.org/clinvar/9121 ^@ NM_033163.3(FGF8):c.40C>A (p.His14Asn) http://identifiers.org/clinvar/9122 ^@ NM_033163.3(FGF8):c.77C>T (p.Pro26Leu) http://identifiers.org/clinvar/9123 ^@ NM_033163.3(FGF8):c.118T>C (p.Phe40Leu) http://identifiers.org/clinvar/9124 ^@ NM_033163.3(FGF8):c.298A>G (p.Lys100Glu) http://identifiers.org/clinvar/9125 ^@ NM_033163.3(FGF8):c.379C>G (p.Arg127Gly) http://identifiers.org/clinvar/9126 ^@ NM_033163.3(FGF8):c.686C>T (p.Thr229Met) http://identifiers.org/clinvar/9127 ^@ NM_006180.4(NTRK2):c.2165A>G (p.Tyr722Cys) http://identifiers.org/clinvar/9128 ^@ NM_001491.2(GCNT2):c.1043G>A (p.Gly348Glu) http://identifiers.org/clinvar/9129 ^@ NM_001491.2(GCNT2):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/9130 ^@ NM_001491.2(GCNT2):c.-117_*41del http://identifiers.org/clinvar/9131 ^@ NM_145649.4(GCNT2):c.505G>A (p.Ala169Thr) http://identifiers.org/clinvar/9132 ^@ NM_145649.4(GCNT2):c.683G>A (p.Arg228Gln) http://identifiers.org/clinvar/9133 ^@ NM_001113348.1(ECE1):c.2212C>T (p.Arg738Cys) http://identifiers.org/clinvar/9134 ^@ ECE1, -338C-A http://identifiers.org/clinvar/9135 ^@ ECE1, -839T-G http://identifiers.org/clinvar/9136 ^@ NM_000370.3(TTPA):c.744delA (p.Glu249Asnfs) http://identifiers.org/clinvar/9137 ^@ NM_000370.3(TTPA):c.303T>G (p.His101Gln) http://identifiers.org/clinvar/9139 ^@ NM_000370.3(TTPA):c.513_514insTT (p.Thr172Leufs) http://identifiers.org/clinvar/9140 ^@ NM_000370.3(TTPA):c.575G>A (p.Arg192His) http://identifiers.org/clinvar/9141 ^@ NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) http://identifiers.org/clinvar/9142 ^@ TTPA, 552G-A http://identifiers.org/clinvar/9143 ^@ NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys) http://identifiers.org/clinvar/9144 ^@ NM_000319.4(PEX5):c.1255C>T (p.Arg419Ter) http://identifiers.org/clinvar/9145 ^@ NM_033028.4(BBS4):c.884G>C (p.Arg295Pro) http://identifiers.org/clinvar/9146 ^@ NM_033028.4(BBS4):c.77-220delA http://identifiers.org/clinvar/9147 ^@ NM_033028.4(BBS4):c.157-2A>G http://identifiers.org/clinvar/9148 ^@ NM_033028.4(BBS4):c.1091C>A (p.Ala364Glu) http://identifiers.org/clinvar/9149 ^@ NM_005888.3(SLC25A3):c.215G>A (p.Gly72Glu) http://identifiers.org/clinvar/9150 ^@ NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) http://identifiers.org/clinvar/9151 ^@ NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/9152 ^@ NM_000409.4(GUCA1A):c.451C>T (p.Leu151Phe) http://identifiers.org/clinvar/9153 ^@ NM_153767.3(KCNJ1):c.180C>G (p.Tyr60Ter) http://identifiers.org/clinvar/9154 ^@ KCNJ1, 1-BP INS, CODON 15 http://identifiers.org/clinvar/9155 ^@ NM_153767.3(KCNJ1):c.600C>G (p.Ser200Arg) http://identifiers.org/clinvar/9156 ^@ KCNJ1, TRP58TER http://identifiers.org/clinvar/9157 ^@ NM_153767.3(KCNJ1):c.584C>T (p.Ala195Val) http://identifiers.org/clinvar/9158 ^@ NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) http://identifiers.org/clinvar/9159 ^@ NM_153767.3(KCNJ1):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/9160 ^@ NM_153767.3(KCNJ1):c.443G>A (p.Gly148Glu) http://identifiers.org/clinvar/9161 ^@ NM_153767.3(KCNJ1):c.265G>C (p.Asp89His) http://identifiers.org/clinvar/9162 ^@ NM_153767.3(KCNJ1):c.315T>A (p.Asn105Lys) http://identifiers.org/clinvar/9163 ^@ SMN1, 11-BP DUP, 801-811 http://identifiers.org/clinvar/9164 ^@ NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) http://identifiers.org/clinvar/9165 ^@ NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) http://identifiers.org/clinvar/9166 ^@ NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) http://identifiers.org/clinvar/9167 ^@ NM_000344.3(SMN1):c.836G>T (p.Gly279Val) http://identifiers.org/clinvar/9168 ^@ NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) http://identifiers.org/clinvar/9169 ^@ SMN1, EX8DEL http://identifiers.org/clinvar/9170 ^@ SMN1, IVS7DS, T-G, +6 http://identifiers.org/clinvar/9171 ^@ SMN1, 5-BP DEL, 425 http://identifiers.org/clinvar/9172 ^@ NM_000344.3(SMN1):c.131A>T (p.Asp44Val) http://identifiers.org/clinvar/9173 ^@ NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) http://identifiers.org/clinvar/9174 ^@ SMN1, 4-BP DEL, 399AGAG http://identifiers.org/clinvar/9175 ^@ NM_000344.3(SMN1):c.88G>A (p.Asp30Asn) http://identifiers.org/clinvar/9176 ^@ NM_000344.3(SMN1):c.283G>C (p.Gly95Arg) http://identifiers.org/clinvar/9177 ^@ NM_000344.3(SMN1):c.332C>G (p.Ala111Gly) http://identifiers.org/clinvar/9178 ^@ NM_000344.3(SMN1):c.784A>G (p.Ser262Gly) http://identifiers.org/clinvar/9179 ^@ NM_000344.3(SMN1):c.346A>T (p.Ile116Phe) http://identifiers.org/clinvar/9180 ^@ NM_000344.3(SMN1):c.406C>G (p.Gln136Glu) http://identifiers.org/clinvar/9181 ^@ NM_002921.3(RGR):c.196A>C (p.Ser66Arg) http://identifiers.org/clinvar/9182 ^@ RGR, 1-BP INS http://identifiers.org/clinvar/9183 ^@ NM_000095.2(COMP):c.1414G>T (p.Asp472Tyr) http://identifiers.org/clinvar/9184 ^@ NM_000095.2(COMP):c.1403G>A (p.Cys468Tyr) http://identifiers.org/clinvar/9185 ^@ COMP, 3-BP DEL, 459TCA, SER459DEL http://identifiers.org/clinvar/9186 ^@ COMP, 3-BP DEL, (GAC)4 http://identifiers.org/clinvar/9187 ^@ NM_000095.2(COMP):c.1024G>T (p.Asp342Tyr) http://identifiers.org/clinvar/9188 ^@ NM_000095.2(COMP):c.982T>C (p.Cys328Arg) http://identifiers.org/clinvar/9189 ^@ NM_000095.2(COMP):c.1569C>G (p.Asn523Lys) http://identifiers.org/clinvar/9190 ^@ NM_000095.2(COMP):c.1358A>G (p.Asn453Ser) http://identifiers.org/clinvar/9191 ^@ NM_000095.2(COMP):c.1418A>G (p.Asp473Gly) http://identifiers.org/clinvar/9192 ^@ NM_000095.2(COMP):c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp) http://identifiers.org/clinvar/9193 ^@ NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp) http://identifiers.org/clinvar/9194 ^@ NM_000095.2(COMP):c.2156G>A (p.Gly719Asp) http://identifiers.org/clinvar/9195 ^@ NM_000095.2(COMP):c.1042T>C (p.Cys348Arg) http://identifiers.org/clinvar/9196 ^@ COMP, EX9DEL http://identifiers.org/clinvar/9197 ^@ NM_000095.2(COMP):c.2223dupC (p.Asn742Glnfs) http://identifiers.org/clinvar/9198 ^@ NM_000095.2(COMP):c.2152C>T (p.Arg718Trp) http://identifiers.org/clinvar/9199 ^@ NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) http://identifiers.org/clinvar/9200 ^@ NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) http://identifiers.org/clinvar/9201 ^@ ACADSB, IVS3DS, A-G, +3 http://identifiers.org/clinvar/9202 ^@ NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) http://identifiers.org/clinvar/9203 ^@ NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) http://identifiers.org/clinvar/9204 ^@ NM_002047.3(GARS):c.880G>C (p.Gly294Arg) http://identifiers.org/clinvar/9205 ^@ NM_002047.3(GARS):c.548T>C (p.Leu183Pro) http://identifiers.org/clinvar/9206 ^@ NM_002047.3(GARS):c.374A>G (p.Glu125Gly) http://identifiers.org/clinvar/9207 ^@ NM_002047.3(GARS):c.1738G>C (p.Gly580Arg) http://identifiers.org/clinvar/9208 ^@ NM_002047.3(GARS):c.1660G>A (p.Asp554Asn) http://identifiers.org/clinvar/9209 ^@ NM_002047.3(GARS):c.893C>T (p.Pro298Leu) http://identifiers.org/clinvar/9210 ^@ NM_000457.4(HNF4A):c.829C>T (p.Gln277Ter) http://identifiers.org/clinvar/9211 ^@ NM_000457.4(HNF4A):c.487C>T (p.Arg163Ter) http://identifiers.org/clinvar/9212 ^@ NM_000457.4(HNF4A):c.406C>T (p.Arg136Trp) http://identifiers.org/clinvar/9213 ^@ NM_000457.4(HNF4A):c.1204G>A (p.Val402Ile) http://identifiers.org/clinvar/9214 ^@ HNF4A, 1-BP DEL, PHE75T http://identifiers.org/clinvar/9215 ^@ HNF4A, IVS5, DEL A, -2 http://identifiers.org/clinvar/9216 ^@ NM_000457.4(HNF4A):c.1118T>G (p.Met373Arg) http://identifiers.org/clinvar/9217 ^@ PEX19, 1-BP INS, 764A http://identifiers.org/clinvar/9218 ^@ NM_000435.2(NOTCH3):c.213G>T (p.Trp71Cys) http://identifiers.org/clinvar/9219 ^@ NM_000435.2(NOTCH3):c.505C>T (p.Arg169Cys) http://identifiers.org/clinvar/9220 ^@ NM_000435.2(NOTCH3):c.544C>T (p.Arg182Cys) http://identifiers.org/clinvar/9221 ^@ NM_000435.2(NOTCH3):c.187G>A (p.Ala63Thr) http://identifiers.org/clinvar/9222 ^@ NM_000435.2(NOTCH3):c.714_758del45 (p.Asp239_Asp253del) http://identifiers.org/clinvar/9223 ^@ NM_000435.2(NOTCH3):c.1363T>C (p.Cys455Arg) http://identifiers.org/clinvar/9224 ^@ NM_000435.2(NOTCH3):c.994C>T (p.Arg332Cys) http://identifiers.org/clinvar/9225 ^@ NM_000435.2(NOTCH3):c.397C>T (p.Arg133Cys) http://identifiers.org/clinvar/9226 ^@ NM_000435.2(NOTCH3):c.2411_2566del156 http://identifiers.org/clinvar/9227 ^@ NM_000435.2(NOTCH3):c.3058G>C (p.Ala1020Pro) http://identifiers.org/clinvar/9228 ^@ NM_000435.2(NOTCH3):c.1282T>A (p.Cys428Ser) http://identifiers.org/clinvar/9229 ^@ NM_024408.3(NOTCH2):c.5930-1G>A http://identifiers.org/clinvar/9230 ^@ NM_024408.3(NOTCH2):c.1331G>A (p.Cys444Tyr) http://identifiers.org/clinvar/9231 ^@ NM_024423.3(DSC3):c.2129T>G (p.Leu710Ter) http://identifiers.org/clinvar/9232 ^@ SLC11A1, 274C-T http://identifiers.org/clinvar/9233 ^@ NM_000578.3(SLC11A1):c.1627G>A (p.Asp543Asn) http://identifiers.org/clinvar/9234 ^@ NM_000535.6(PMS2):c.400C>T (p.Arg134Ter) http://identifiers.org/clinvar/9235 ^@ NM_000535.6(PMS2):c.1221delG (p.Thr408Leufs) http://identifiers.org/clinvar/9237 ^@ NM_000535.6(PMS2):c.2404C>T (p.Arg802Ter) http://identifiers.org/clinvar/9240 ^@ NM_000535.6(PMS2):c.1021delA (p.Arg341Glyfs) http://identifiers.org/clinvar/9241 ^@ PMS2, IVS10, T-A, +2 http://identifiers.org/clinvar/9242 ^@ NM_000535.6(PMS2):c.1882C>T (p.Arg628Ter) http://identifiers.org/clinvar/9243 ^@ NM_000535.6(PMS2):c.846delG (p.Ser283Valfs) http://identifiers.org/clinvar/9244 ^@ NM_000535.6(PMS2):c.1731_1732delGCinsAGT (p.Arg578Valfs) http://identifiers.org/clinvar/9245 ^@ NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) http://identifiers.org/clinvar/9249 ^@ NM_000535.6(PMS2):c.219T>A (p.Cys73Ter) http://identifiers.org/clinvar/9251 ^@ NM_005018.2(PDCD1):c.627+189G>C http://identifiers.org/clinvar/9252 ^@ NM_001037.4(SCN1B):c.363C>G (p.Cys121Trp) http://identifiers.org/clinvar/9253 ^@ NM_001037.4(SCN1B):c.208-2A>C http://identifiers.org/clinvar/9254 ^@ NM_001037.4(SCN1B):c.448+88G>A http://identifiers.org/clinvar/9255 ^@ NM_001037.4(SCN1B):c.259G>C (p.Glu87Gln) http://identifiers.org/clinvar/9256 ^@ NM_199037.4(SCN1B):c.537G>A (p.Trp179Ter) http://identifiers.org/clinvar/9257 ^@ NM_001166107.1(HMGCS2):c.520T>C (p.Phe174Leu) http://identifiers.org/clinvar/9258 ^@ NM_005518.3(HMGCS2):c.1270C>T (p.Arg424Ter) http://identifiers.org/clinvar/9259 ^@ NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg) http://identifiers.org/clinvar/9260 ^@ NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His) http://identifiers.org/clinvar/9261 ^@ NM_001166107.1(HMGCS2):c.160G>A (p.Val54Met) http://identifiers.org/clinvar/9262 ^@ NM_001166107.1(HMGCS2):c.500A>G (p.Tyr167Cys) http://identifiers.org/clinvar/9263 ^@ SCNN1A, 2-BP DEL, FS144TER http://identifiers.org/clinvar/9264 ^@ NM_001038.5(SCNN1A):c.1522C>T (p.Arg508Ter) http://identifiers.org/clinvar/9265 ^@ SCNN1A, 1-BP DEL, 1449C http://identifiers.org/clinvar/9266 ^@ SCNN1A, 1-BP DEL, 729A http://identifiers.org/clinvar/9267 ^@ NM_001038.5(SCNN1A):c.1685C>T (p.Ser562Leu) http://identifiers.org/clinvar/9268 ^@ NM_001038.5(SCNN1A):c.340G>A (p.Val114Ile) http://identifiers.org/clinvar/9269 ^@ NM_001038.5(SCNN1A):c.1477T>C (p.Trp493Arg) http://identifiers.org/clinvar/9270 ^@ NM_001038.5(SCNN1A):c.241C>T (p.Arg81Cys) http://identifiers.org/clinvar/9271 ^@ NM_000161.2(GCH1):c.262C>T (p.Arg88Trp) http://identifiers.org/clinvar/9272 ^@ NM_000161.2(GCH1):c.401A>T (p.Asp134Val) http://identifiers.org/clinvar/9273 ^@ GCH1, 2-BP INS http://identifiers.org/clinvar/9274 ^@ NM_000161.2(GCH1):c.602G>A (p.Gly201Glu) http://identifiers.org/clinvar/9275 ^@ GCH1, IVS1, A-G, -2 http://identifiers.org/clinvar/9276 ^@ GCH1, IVS2, A-G, -2 http://identifiers.org/clinvar/9277 ^@ NM_000161.2(GCH1):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/9278 ^@ NM_000161.2(GCH1):c.431A>C (p.His144Pro) http://identifiers.org/clinvar/9279 ^@ GCH1, IVS2, G-C, +1 http://identifiers.org/clinvar/9280 ^@ GCH1, 1-BP DEL, 351A http://identifiers.org/clinvar/9281 ^@ NM_000161.2(GCH1):c.662T>C (p.Met221Thr) http://identifiers.org/clinvar/9282 ^@ NM_000161.2(GCH1):c.323G>A (p.Gly108Asp) http://identifiers.org/clinvar/9283 ^@ NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) http://identifiers.org/clinvar/9284 ^@ NM_000161.2(GCH1):c.586G>T (p.Ala196Ser) http://identifiers.org/clinvar/9285 ^@ NM_000161.2(GCH1):c.404T>A (p.Ile135Lys) http://identifiers.org/clinvar/9286 ^@ NM_000161.2(GCH1):c.747G>C (p.Arg249Ser) http://identifiers.org/clinvar/9287 ^@ NM_000161.2(GCH1):c.633G>A (p.Met211Ile) http://identifiers.org/clinvar/9288 ^@ NM_000161.2(GCH1):c.142C>T (p.Gln48Ter) http://identifiers.org/clinvar/9289 ^@ GCH1, IVS5, G-A, +1 http://identifiers.org/clinvar/9290 ^@ NM_000161.2(GCH1):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/9291 ^@ GCH1, DEL http://identifiers.org/clinvar/9292 ^@ NM_000161.2(GCH1):c.595C>G (p.Pro199Ala) http://identifiers.org/clinvar/9293 ^@ NM_000459.4(TEK):c.2545C>T (p.Arg849Trp) http://identifiers.org/clinvar/9294 ^@ NM_000459.4(TEK):c.2690A>C (p.Tyr897Ser) http://identifiers.org/clinvar/9295 ^@ NM_001024630.3(RUNX2):c.189_203delGCAGCAACAGCAGCAinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72Glnfs) http://identifiers.org/clinvar/9296 ^@ NM_001024630.3(RUNX2):c.891G>A (p.Trp297Ter) http://identifiers.org/clinvar/9297 ^@ NM_001024630.3(RUNX2):c.223_252dup30 (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/9298 ^@ NM_001024630.3(RUNX2):c.524T>G (p.Met175Arg) http://identifiers.org/clinvar/9299 ^@ NM_001024630.3(RUNX2):c.572G>A (p.Ser191Asn) http://identifiers.org/clinvar/9300 ^@ RUNX2, 1-BP INS, 1380C http://identifiers.org/clinvar/9301 ^@ NM_001024630.3(RUNX2):c.1205dupC (p.Pro403Alafs) http://identifiers.org/clinvar/9302 ^@ NM_001024630.3(RUNX2):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/9303 ^@ NM_001024630.3(RUNX2):c.673C>T (p.Arg225Trp) http://identifiers.org/clinvar/9304 ^@ NM_001024630.3(RUNX2):c.598A>G (p.Thr200Ala) http://identifiers.org/clinvar/9305 ^@ NM_001024630.3(RUNX2):c.1565G>C (p.Ter522Ser) http://identifiers.org/clinvar/9306 ^@ NM_001024630.3(RUNX2):c.506G>C (p.Arg169Pro) http://identifiers.org/clinvar/9307 ^@ NM_001024630.3(RUNX2):c.1228dupC (p.Leu410Profs) http://identifiers.org/clinvar/9308 ^@ NM_001672.2(ASIP):c.*25A>G http://identifiers.org/clinvar/9309 ^@ NM_000423.2(KRT2):c.1461G>T (p.Glu487Asp) http://identifiers.org/clinvar/9310 ^@ NM_000423.2(KRT2):c.1459G>A (p.Glu487Lys) http://identifiers.org/clinvar/9311 ^@ NM_000423.2(KRT2):c.542A>C (p.Gln181Pro) http://identifiers.org/clinvar/9312 ^@ NM_000423.2(KRT2):c.1435A>C (p.Thr479Pro) http://identifiers.org/clinvar/9313 ^@ NM_000423.2(KRT2):c.556A>T (p.Asn186Tyr) http://identifiers.org/clinvar/9314 ^@ NM_000423.2(KRT2):c.1426G>A (p.Glu476Lys) http://identifiers.org/clinvar/9315 ^@ NM_000423.2(KRT2):c.556A>G (p.Asn186Asp) http://identifiers.org/clinvar/9316 ^@ NM_000423.2(KRT2):c.558C>A (p.Asn186Lys) http://identifiers.org/clinvar/9317 ^@ BRCA2, 6-BP DEL, PHE-TER http://identifiers.org/clinvar/9318 ^@ NM_000059.3(BRCA2):c.6275_6276delTT (p.Leu2092Profs) http://identifiers.org/clinvar/9319 ^@ NM_000059.3(BRCA2):c.6591_6592delTG (p.Glu2198Asnfs) http://identifiers.org/clinvar/9320 ^@ NM_000059.3(BRCA2):c.5722_5723delCT (p.Leu1908Argfs) http://identifiers.org/clinvar/9321 ^@ BRCA2, 1-BP DEL http://identifiers.org/clinvar/9322 ^@ NM_000059.3(BRCA2):c.2808_2811del4 (p.Ala938Profs) http://identifiers.org/clinvar/9323 ^@ BRCA2, 1-BP DEL, 8525C http://identifiers.org/clinvar/9324 ^@ NM_000059.3(BRCA2):c.3904_3906delACT (p.Thr1302del) http://identifiers.org/clinvar/9325 ^@ NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) http://identifiers.org/clinvar/9326 ^@ NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) http://identifiers.org/clinvar/9328 ^@ NM_000059.3(BRCA2):c.8537_8538delAG (p.Glu2846Glyfs) http://identifiers.org/clinvar/9329 ^@ NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) http://identifiers.org/clinvar/9330 ^@ BRCA2, IVS23AS, A-G, -2 http://identifiers.org/clinvar/9331 ^@ BRCA2, 1-BP DEL, 6051A http://identifiers.org/clinvar/9332 ^@ BRCA2, 4-BP DEL, NT3034 http://identifiers.org/clinvar/9333 ^@ BRCA2, IVS19AS, G-A, -1 http://identifiers.org/clinvar/9334 ^@ BRCA2, 2-BP INS, 7691AT http://identifiers.org/clinvar/9338 ^@ BRCA2, 8415G-T http://identifiers.org/clinvar/9339 ^@ NM_000059.3(BRCA2):c.8732C>A (p.Ala2911Glu) http://identifiers.org/clinvar/9340 ^@ NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) http://identifiers.org/clinvar/9342 ^@ NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) http://identifiers.org/clinvar/9343 ^@ NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter) http://identifiers.org/clinvar/9344 ^@ NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter) http://identifiers.org/clinvar/9345 ^@ NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) http://identifiers.org/clinvar/9346 ^@ NM_000059.3(BRCA2):c.5645C>G (p.Ser1882Ter) http://identifiers.org/clinvar/9347 ^@ NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) http://identifiers.org/clinvar/9348 ^@ NM_000059.3(BRCA2):c.631+1G>A http://identifiers.org/clinvar/9349 ^@ NM_000059.3(BRCA2):c.631+2T>G http://identifiers.org/clinvar/9350 ^@ NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) http://identifiers.org/clinvar/9351 ^@ GUCY2D, 1-BP DEL, 460C http://identifiers.org/clinvar/9352 ^@ GUCY2D, 1-BP DEL, 693C http://identifiers.org/clinvar/9353 ^@ NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) http://identifiers.org/clinvar/98567 ^@ NM_000180.3(GUCY2D):c.2511G>C (p.Glu837Asp) http://identifiers.org/clinvar/9355 ^@ NM_000180.3(GUCY2D):c.2512C>T (p.Arg838Cys) http://identifiers.org/clinvar/9357 ^@ NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) http://identifiers.org/clinvar/9358 ^@ GUCY2D, 1-BP DEL, 2943G http://identifiers.org/clinvar/9359 ^@ NM_000180.3(GUCY2D):c.2846T>C (p.Ile949Thr) http://identifiers.org/clinvar/9360 ^@ NM_000215.3(JAK3):c.299A>G (p.Tyr100Cys) http://identifiers.org/clinvar/9361 ^@ JAK3, 151-BP DEL http://identifiers.org/clinvar/9362 ^@ JAK3, 1-BP INS, 1172G http://identifiers.org/clinvar/9363 ^@ NM_000215.3(JAK3):c.1695C>A (p.Cys565Ter) http://identifiers.org/clinvar/9364 ^@ NM_000215.3(JAK3):c.1333C>T (p.Arg445Ter) http://identifiers.org/clinvar/9365 ^@ JAK3, ASP169GLU http://identifiers.org/clinvar/9366 ^@ NM_000215.3(JAK3):c.172_174delGCC (p.Ala58del) http://identifiers.org/clinvar/9367 ^@ AQP3, IVS5, G-A, +1 http://identifiers.org/clinvar/9369 ^@ NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) http://identifiers.org/clinvar/9370 ^@ NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser) http://identifiers.org/clinvar/67813 ^@ NM_198056.2(SCN5A):c.3694C>T (p.Arg1232Trp) http://identifiers.org/clinvar/9372 ^@ NM_000335.4(SCN5A):c.611+3_611+4dupAA http://identifiers.org/clinvar/9373 ^@ NM_000335.4(SCN5A):c.4187delA (p.Lys1396Argfs) http://identifiers.org/clinvar/9374 ^@ NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) http://identifiers.org/clinvar/9375 ^@ NM_000335.4(SCN5A):c.5381A>G (p.Tyr1794Cys) http://identifiers.org/clinvar/9376 ^@ NM_000335.4(SCN5A):c.4865G>A (p.Arg1622Gln) http://identifiers.org/clinvar/9377 ^@ NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) http://identifiers.org/clinvar/9378 ^@ NM_198056.2(SCN5A):c.3963+2T>C http://identifiers.org/clinvar/9379 ^@ NM_000335.4(SCN5A):c.5128delG (p.Ala1710Profs) http://identifiers.org/clinvar/9380 ^@ NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) http://identifiers.org/clinvar/9381 ^@ NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) http://identifiers.org/clinvar/9382 ^@ NM_000335.4(SCN5A):c.5382_5384dupTGA (p.Tyr1794_Glu1795insAsp) http://identifiers.org/clinvar/9383 ^@ NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) http://identifiers.org/clinvar/9384 ^@ NM_001099404.1(SCN5A):c.2821_2822delTCinsAA (p.Ser941Asn) http://identifiers.org/clinvar/9385 ^@ NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) http://identifiers.org/clinvar/9386 ^@ NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys) http://identifiers.org/clinvar/9387 ^@ NM_001099404.1(SCN5A):c.892G>A (p.Gly298Ser) http://identifiers.org/clinvar/9388 ^@ NM_198056.2(SCN5A):c.2989G>T (p.Ala997Ser) http://identifiers.org/clinvar/9389 ^@ NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) http://identifiers.org/clinvar/9390 ^@ NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) http://identifiers.org/clinvar/9391 ^@ NM_000335.4(SCN5A):c.2204C>T (p.Ala735Val) http://identifiers.org/clinvar/9392 ^@ NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) http://identifiers.org/clinvar/9393 ^@ NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) http://identifiers.org/clinvar/9394 ^@ NM_000335.4(SCN5A):c.3890C>T (p.Pro1297Leu) http://identifiers.org/clinvar/9395 ^@ NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) http://identifiers.org/clinvar/9396 ^@ NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) http://identifiers.org/clinvar/9397 ^@ NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His) http://identifiers.org/clinvar/67665 ^@ NM_198056.2(SCN5A):c.1535C>T (p.Thr512Ile) http://identifiers.org/clinvar/9399 ^@ NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) http://identifiers.org/clinvar/9400 ^@ NM_000335.4(SCN5A):c.3157G>A (p.Glu1053Lys) http://identifiers.org/clinvar/9401 ^@ NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) http://identifiers.org/clinvar/9402 ^@ NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) http://identifiers.org/clinvar/9403 ^@ NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter) http://identifiers.org/clinvar/9406 ^@ NM_000335.4(SCN5A):c.4780G>C (p.Asp1594His) http://identifiers.org/clinvar/68037 ^@ NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) http://identifiers.org/clinvar/9408 ^@ NM_000077.4(CDKN2A):c.265G>A (p.Gly89Ser) http://identifiers.org/clinvar/9409 ^@ NM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter) http://identifiers.org/clinvar/9410 ^@ NM_000077.4(CDKN2A):c.226_244del19 (p.Ala76Cysfs) http://identifiers.org/clinvar/9411 ^@ CDKN2A, 6-BP DEL, NT363 http://identifiers.org/clinvar/9412 ^@ NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) http://identifiers.org/clinvar/9413 ^@ CDKN2A, 3-BP DUP, ARG105INS http://identifiers.org/clinvar/9414 ^@ NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile) http://identifiers.org/clinvar/9415 ^@ NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) http://identifiers.org/clinvar/9416 ^@ NM_000077.4(CDKN2A):c.-16_8dup24 http://identifiers.org/clinvar/9417 ^@ CDKN2A, -34G-T http://identifiers.org/clinvar/9419 ^@ CDKN2A, EXON 1-BETA DEL http://identifiers.org/clinvar/9420 ^@ NM_000077.4(CDKN2A):c.377T>A (p.Val126Asp) http://identifiers.org/clinvar/9421 ^@ CDKN2A, IVS2, A-G, -105 http://identifiers.org/clinvar/9422 ^@ NM_000077.4(CDKN2A):c.364G>C (p.Gly122Arg) http://identifiers.org/clinvar/9423 ^@ NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) http://identifiers.org/clinvar/9424 ^@ NM_000077.4(CDKN2A):c.339_340delGCinsCT (p.Pro114Ser) http://identifiers.org/clinvar/9425 ^@ NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) http://identifiers.org/clinvar/9426 ^@ NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) http://identifiers.org/clinvar/9427 ^@ NM_001014797.2(KCNMA1):c.1301A>G (p.Asp434Gly) http://identifiers.org/clinvar/9428 ^@ NM_004380.2(CREBBP):c.406C>T (p.Gln136Ter) http://identifiers.org/clinvar/9429 ^@ NM_004380.2(CREBBP):c.1069C>T (p.Gln357Ter) http://identifiers.org/clinvar/9430 ^@ NM_004380.2(CREBBP):c.4133G>C (p.Arg1378Pro) http://identifiers.org/clinvar/9431 ^@ CREBBP, 2-BP DEL, NT5222 http://identifiers.org/clinvar/9432 ^@ NM_004380.2(CREBBP):c.3524A>G (p.Tyr1175Cys) http://identifiers.org/clinvar/9433 ^@ NM_004380.2(CREBBP):c.3832G>A (p.Glu1278Lys) http://identifiers.org/clinvar/9434 ^@ CREBBP, IVS21, A-T, -2 http://identifiers.org/clinvar/9435 ^@ NM_000023.3(SGCA):c.293G>A (p.Arg98His) http://identifiers.org/clinvar/9436 ^@ NM_000023.3(SGCA):c.524T>C (p.Val175Ala) http://identifiers.org/clinvar/9437 ^@ NM_000023.3(SGCA):c.229C>T (p.Arg77Cys) http://identifiers.org/clinvar/9438 ^@ NM_000023.3(SGCA):c.410A>G (p.Glu137Gly) http://identifiers.org/clinvar/9439 ^@ NM_000023.3(SGCA):c.850C>T (p.Arg284Cys) http://identifiers.org/clinvar/9440 ^@ SGCA, TYR134TER http://identifiers.org/clinvar/9441 ^@ NM_004172.4(SLC1A3):c.869C>G (p.Pro290Arg) http://identifiers.org/clinvar/9442 ^@ NM_004172.4(SLC1A3):c.556T>A (p.Cys186Ser) http://identifiers.org/clinvar/9443 ^@ NM_002427.3(MMP13):c.224T>C (p.Phe75Ser) http://identifiers.org/clinvar/9444 ^@ NM_002427.3(MMP13):c.221T>C (p.Phe74Ser) http://identifiers.org/clinvar/9445 ^@ NM_002427.3(MMP13):c.272T>C (p.Met91Thr) http://identifiers.org/clinvar/9446 ^@ NM_002427.3(MMP13):c.694C>A (p.His232Asn) http://identifiers.org/clinvar/9447 ^@ NM_001177314.1(RRAS2):c.110A>T (p.Gln37Leu) http://identifiers.org/clinvar/9448 ^@ NM_002835.3(PTPN12):c.182A>G (p.Lys61Arg) http://identifiers.org/clinvar/9449 ^@ NM_003194.4(TBP):c.172_174CAG(25_42) (p.Gln95(25_42)) http://identifiers.org/clinvar/9450 ^@ NM_004525.2(LRP2):c.7564T>C (p.Tyr2522His) http://identifiers.org/clinvar/9451 ^@ NM_004525.2(LRP2):c.9484_9485delGT (p.Val3162Leufs) http://identifiers.org/clinvar/9452 ^@ NM_004525.2(LRP2):c.2640-1G>A http://identifiers.org/clinvar/9453 ^@ NM_004525.2(LRP2):c.8516_8519delTTTA (p.Tyr2840Cysfs) http://identifiers.org/clinvar/9454 ^@ NM_004525.2(LRP2):c.8452+1G>A http://identifiers.org/clinvar/9455 ^@ NM_004525.2(LRP2):c.10195C>T (p.Arg3399Ter) http://identifiers.org/clinvar/9456 ^@ NM_004525.2(LRP2):c.1341+2T>G http://identifiers.org/clinvar/9457 ^@ NM_004525.2(LRP2):c.1093C>T (p.Arg365Ter) http://identifiers.org/clinvar/9458 ^@ NM_000211.4(ITGB2):c.1777C>T (p.Arg593Cys) http://identifiers.org/clinvar/9459 ^@ NM_000211.4(ITGB2):c.587A>C (p.Lys196Thr) http://identifiers.org/clinvar/9460 ^@ NM_000211.4(ITGB2):c.446T>C (p.Leu149Pro) http://identifiers.org/clinvar/9461 ^@ NM_000211.4(ITGB2):c.505G>A (p.Gly169Arg) http://identifiers.org/clinvar/9462 ^@ NM_000211.4(ITGB2):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/9463 ^@ NM_000211.4(ITGB2):c.1756C>T (p.Arg586Trp) http://identifiers.org/clinvar/9464 ^@ ITGB2, IVS?AS, -12, 12-BP INS http://identifiers.org/clinvar/9465 ^@ NM_000211.4(ITGB2):c.1052A>G (p.Asn351Ser) http://identifiers.org/clinvar/9466 ^@ NM_000211.4(ITGB2):c.533C>T (p.Pro178Leu) http://identifiers.org/clinvar/9467 ^@ NM_000211.4(ITGB2):c.382G>A (p.Asp128Asn) http://identifiers.org/clinvar/9468 ^@ ITGB2, IVSDS, G-A, +1 http://identifiers.org/clinvar/9469 ^@ NM_000211.4(ITGB2):c.850G>A (p.Gly284Ser) http://identifiers.org/clinvar/9470 ^@ NM_000211.4(ITGB2):c.412T>C (p.Ser138Pro) http://identifiers.org/clinvar/9471 ^@ NM_000211.4(ITGB2):c.817G>A (p.Gly273Arg) http://identifiers.org/clinvar/9472 ^@ ITGB2, IVS4AS, 169-BP DEL, -37 http://identifiers.org/clinvar/9473 ^@ NM_001298.2(CNGA3):c.488C>T (p.Pro163Leu) http://identifiers.org/clinvar/9474 ^@ NM_001298.2(CNGA3):c.847C>T (p.Arg283Trp) http://identifiers.org/clinvar/9475 ^@ NM_001298.2(CNGA3):c.848G>A (p.Arg283Gln) http://identifiers.org/clinvar/9476 ^@ NM_001298.2(CNGA3):c.1669G>A (p.Gly557Arg) http://identifiers.org/clinvar/9477 ^@ NM_001298.2(CNGA3):c.872C>G (p.Thr291Arg) http://identifiers.org/clinvar/9478 ^@ NM_001298.2(CNGA3):c.1641C>A (p.Phe547Leu) http://identifiers.org/clinvar/9479 ^@ NM_001298.2(CNGA3):c.1228C>T (p.Arg410Trp) http://identifiers.org/clinvar/9480 ^@ NM_001298.2(CNGA3):c.1585G>A (p.Val529Met) http://identifiers.org/clinvar/9481 ^@ NM_001298.2(CNGA3):c.829C>T (p.Arg277Cys) http://identifiers.org/clinvar/9482 ^@ NM_001298.2(CNGA3):c.1306C>T (p.Arg436Trp) http://identifiers.org/clinvar/9483 ^@ NM_005502.3(ABCA1):c.4429T>C (p.Cys1477Arg) http://identifiers.org/clinvar/9484 ^@ NM_005502.3(ABCA1):c.3738+1G>C http://identifiers.org/clinvar/9485 ^@ NM_005502.3(ABCA1):c.1790A>G (p.Gln597Arg) http://identifiers.org/clinvar/9486 ^@ NM_005502.3(ABCA1):c.2080_2082delCTT (p.Leu694del) http://identifiers.org/clinvar/9487 ^@ NM_005502.3(ABCA1):c.1824delG (p.Thr609Argfs) http://identifiers.org/clinvar/9488 ^@ NM_005502.3(ABCA1):c.2804A>G (p.Asn935Ser) http://identifiers.org/clinvar/9489 ^@ NM_005502.3(ABCA1):c.2810C>T (p.Ala937Val) http://identifiers.org/clinvar/9490 ^@ NM_005502.3(ABCA1):c.1769G>C (p.Trp590Ser) http://identifiers.org/clinvar/9492 ^@ NM_005502.3(ABCA1):c.1584_1597delTGAGAGGAAGTTCTinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Gly867delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) http://identifiers.org/clinvar/9493 ^@ NM_005502.3(ABCA1):c.3343_3344delTC (p.Ser1115Profs) http://identifiers.org/clinvar/9494 ^@ NM_005502.3(ABCA1):c.6241C>T (p.Arg2081Trp) http://identifiers.org/clinvar/9495 ^@ ABCA1, 1-BP DEL, 2665C http://identifiers.org/clinvar/9496 ^@ NM_005502.3(ABCA1):c.4517C>T (p.Ser1506Leu) http://identifiers.org/clinvar/9498 ^@ NM_005502.3(ABCA1):c.2803A>C (p.Asn935His) http://identifiers.org/clinvar/9499 ^@ NG_007981.1:g.[101177_102434delins36;107248_127198delins21] http://identifiers.org/clinvar/9500 ^@ NM_005502.3(ABCA1):c.5038C>T (p.Arg1680Trp) http://identifiers.org/clinvar/9501 ^@ NM_005502.3(ABCA1):c.3295G>T (p.Asp1099Tyr) http://identifiers.org/clinvar/9502 ^@ NM_005502.3(ABCA1):c.6026T>C (p.Phe2009Ser) http://identifiers.org/clinvar/9503 ^@ NM_005502.3(ABCA1):c.3865G>A (p.Asp1289Asn) http://identifiers.org/clinvar/9504 ^@ NM_005502.3(ABCA1):c.3847_3850delCGCC (p.Pro1284Serfs) http://identifiers.org/clinvar/9505 ^@ NM_005502.3(ABCA1):c.1719C>A (p.Tyr573Ter) http://identifiers.org/clinvar/9506 ^@ NM_005502.3(ABCA1):c.656G>A (p.Arg219Lys) http://identifiers.org/clinvar/9507 ^@ NM_005502.3(ABCA1):c.161-806C>T http://identifiers.org/clinvar/9508 ^@ THPO, IVS3, G-C, +1 http://identifiers.org/clinvar/9509 ^@ THPO, 1-BP DEL, 3252G http://identifiers.org/clinvar/9510 ^@ THPO, 516G-T http://identifiers.org/clinvar/9511 ^@ NM_138761.3(BAX):c.121dupG (p.Glu41Glyfs) http://identifiers.org/clinvar/9512 ^@ NM_138761.3(BAX):c.121delG (p.Glu41Argfs) http://identifiers.org/clinvar/9513 ^@ NM_138761.3(BAX):c.199G>A (p.Gly67Arg) http://identifiers.org/clinvar/9514 ^@ NM_138761.3(BAX):c.115_121delGGGGGGG (p.Gly39Argfs) http://identifiers.org/clinvar/9515 ^@ NM_172337.2(OTX2):c.463_464dupGC (p.Ser156Leufs) http://identifiers.org/clinvar/9516 ^@ NM_172337.2(OTX2):c.265C>G (p.Arg89Gly) http://identifiers.org/clinvar/9517 ^@ NM_172337.2(OTX2):c.81delC (p.Ser28Profs) http://identifiers.org/clinvar/9518 ^@ NM_172337.2(OTX2):c.537T>A (p.Tyr179Ter) http://identifiers.org/clinvar/9519 ^@ EMX2, 1-BP INS http://identifiers.org/clinvar/9520 ^@ EMX2, IVS1AS, G-A, -1 http://identifiers.org/clinvar/9521 ^@ EMX2, IVS1AS, G-T, -4 http://identifiers.org/clinvar/9522 ^@ EMX2, G-T, EXON 2, NT1 http://identifiers.org/clinvar/9523 ^@ CHIT1, 24-BP DUP http://identifiers.org/clinvar/9524 ^@ CHIT1, GLY354ARG, LEU385LEU, AND 4-BP DEL http://identifiers.org/clinvar/9525 ^@ NM_003465.2(CHIT1):c.220G>A (p.Glu74Lys) http://identifiers.org/clinvar/9526 ^@ NM_003465.2(CHIT1):c.304G>A (p.Gly102Ser) http://identifiers.org/clinvar/9527 ^@ NM_194442.2(LBR):c.1565-10_1565-5del http://identifiers.org/clinvar/9528 ^@ NM_194442.2(LBR):c.166-2A>G http://identifiers.org/clinvar/9529 ^@ NM_194442.2(LBR):c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter) http://identifiers.org/clinvar/9530 ^@ NM_194442.2(LBR):c.356C>T (p.Pro119Leu) http://identifiers.org/clinvar/9531 ^@ NM_194442.2(LBR):c.1484-9A>G http://identifiers.org/clinvar/9532 ^@ NM_194442.2(LBR):c.1706C>G (p.Pro569Arg) http://identifiers.org/clinvar/9533 ^@ NM_194442.2(LBR):c.1114C>T (p.Arg372Cys) http://identifiers.org/clinvar/9534 ^@ MXI1, 1-BP DEL, A, CODON 140 OR 141 http://identifiers.org/clinvar/9535 ^@ NM_130439.3(MXI1):c.552+2T>C http://identifiers.org/clinvar/9536 ^@ NM_130439.3(MXI1):c.656A>C (p.Glu219Ala) http://identifiers.org/clinvar/9537 ^@ NM_130439.3(MXI1):c.362C>T (p.Ala121Val) http://identifiers.org/clinvar/9538 ^@ NM_001008503.2(OPRM1):c.118A>G (p.Asn40Asp) http://identifiers.org/clinvar/9539 ^@ NM_001843.3(CNTN1):c.871dupT (p.Ser291Phefs) http://identifiers.org/clinvar/9540 ^@ MHC2TA, IVS13DS, G-A, +1 http://identifiers.org/clinvar/9541 ^@ NM_000246.3(CIITA):c.1141G>T (p.Glu381Ter) http://identifiers.org/clinvar/9542 ^@ NM_000246.3(CIITA):c.3234_3317del84 http://identifiers.org/clinvar/9543 ^@ NM_000246.3(CIITA):c.2063G>A (p.Trp688Ter) http://identifiers.org/clinvar/9544 ^@ NM_000246.3(CIITA):c.2889_2969del81 (p.Gly965_Leu991del) http://identifiers.org/clinvar/9545 ^@ MHC2TA, 3-BP DEL, 3193CAT http://identifiers.org/clinvar/9546 ^@ MHC2TA, -168A-G http://identifiers.org/clinvar/9547 ^@ NM_201590.2(CACNB2):c.1442C>T (p.Ser481Leu) http://identifiers.org/clinvar/9548 ^@ m.1606G>A http://identifiers.org/clinvar/9549 ^@ m.1624C>T http://identifiers.org/clinvar/9550 ^@ m.5874T>C http://identifiers.org/clinvar/9551 ^@ m.5888delT http://identifiers.org/clinvar/9552 ^@ m.5877C>T http://identifiers.org/clinvar/9553 ^@ m.5843A>G http://identifiers.org/clinvar/9554 ^@ m.5549G>A http://identifiers.org/clinvar/9555 ^@ m.5537_5538insT http://identifiers.org/clinvar/9556 ^@ m.5521G>A http://identifiers.org/clinvar/9557 ^@ m.5532G>A http://identifiers.org/clinvar/9558 ^@ m.5545C>T http://identifiers.org/clinvar/9559 ^@ m.15950G>A http://identifiers.org/clinvar/9560 ^@ m.12258C>A http://identifiers.org/clinvar/9561 ^@ m.12207G>A http://identifiers.org/clinvar/9562 ^@ m.7512T>C http://identifiers.org/clinvar/9563 ^@ m.7445A>G http://identifiers.org/clinvar/9565 ^@ m.7510T>C http://identifiers.org/clinvar/9566 ^@ m.7511T>C http://identifiers.org/clinvar/9568 ^@ m.7445A>C http://identifiers.org/clinvar/9569 ^@ m.7497G>A http://identifiers.org/clinvar/9570 ^@ m.15990C>T http://identifiers.org/clinvar/9571 ^@ m.15965A>G http://identifiers.org/clinvar/9572 ^@ m.15967G>A http://identifiers.org/clinvar/9573 ^@ m.583G>A http://identifiers.org/clinvar/9574 ^@ m.611G>A http://identifiers.org/clinvar/9575 ^@ m.622G>A http://identifiers.org/clinvar/9576 ^@ m.616T>C http://identifiers.org/clinvar/9577 ^@ m.616T>G http://identifiers.org/clinvar/9578 ^@ m.4409T>C http://identifiers.org/clinvar/9579 ^@ m.8344A>G http://identifiers.org/clinvar/9580 ^@ m.8356T>C http://identifiers.org/clinvar/9581 ^@ m.8363G>A http://identifiers.org/clinvar/9582 ^@ m.8342G>A http://identifiers.org/clinvar/9583 ^@ m.8313G>A http://identifiers.org/clinvar/9584 ^@ m.8296A>G http://identifiers.org/clinvar/9585 ^@ m.8361G>A http://identifiers.org/clinvar/9586 ^@ m.12315G>A http://identifiers.org/clinvar/9587 ^@ m.12320A>G http://identifiers.org/clinvar/9588 ^@ m.12297T>C http://identifiers.org/clinvar/9589 ^@ m.3243A>G http://identifiers.org/clinvar/9590 ^@ m.3271T>C http://identifiers.org/clinvar/9591 ^@ m.3256C>T http://identifiers.org/clinvar/9592 ^@ m.3303C>T http://identifiers.org/clinvar/9593 ^@ m.3250T>C http://identifiers.org/clinvar/9594 ^@ m.3252A>G http://identifiers.org/clinvar/9595 ^@ m.3251A>G http://identifiers.org/clinvar/9596 ^@ m.3260A>G http://identifiers.org/clinvar/9597 ^@ m.3290T>C http://identifiers.org/clinvar/9598 ^@ m.3274A>G http://identifiers.org/clinvar/9599 ^@ m.3249G>A http://identifiers.org/clinvar/9600 ^@ m.3242G>A http://identifiers.org/clinvar/9601 ^@ m.4317A>G http://identifiers.org/clinvar/9602 ^@ m.4269A>G http://identifiers.org/clinvar/9603 ^@ m.4295A>G http://identifiers.org/clinvar/9604 ^@ m.4284G>A http://identifiers.org/clinvar/9605 ^@ m.4290T>C http://identifiers.org/clinvar/9606 ^@ m.4300A>G http://identifiers.org/clinvar/9607 ^@ m.4291T>C http://identifiers.org/clinvar/9608 ^@ m.12192G>A http://identifiers.org/clinvar/9609 ^@ m.12183G>A http://identifiers.org/clinvar/9610 ^@ m.12147G>A http://identifiers.org/clinvar/9611 ^@ m.9997T>C http://identifiers.org/clinvar/9612 ^@ m.10010T>C http://identifiers.org/clinvar/9613 ^@ m.10044A>G http://identifiers.org/clinvar/9614 ^@ m.4369_4370insA http://identifiers.org/clinvar/9615 ^@ m.4336T>C http://identifiers.org/clinvar/9616 ^@ m.4332G>A http://identifiers.org/clinvar/9617 ^@ m.14709T>C http://identifiers.org/clinvar/9618 ^@ m.14674T>C http://identifiers.org/clinvar/9619 ^@ m.7526A>G http://identifiers.org/clinvar/9620 ^@ m.5703G>A http://identifiers.org/clinvar/9621 ^@ m.5692T>C http://identifiers.org/clinvar/9622 ^@ m.5728T>C http://identifiers.org/clinvar/9623 ^@ m.10438A>G http://identifiers.org/clinvar/9624 ^@ m.5650G>A http://identifiers.org/clinvar/9625 ^@ m.5591G>A http://identifiers.org/clinvar/9626 ^@ m.2991T>C http://identifiers.org/clinvar/9627 ^@ m.2939C>A http://identifiers.org/clinvar/9628 ^@ m.1555A>G http://identifiers.org/clinvar/9629 ^@ m.961delTinsC(2_7) http://identifiers.org/clinvar/9630 ^@ m.1291T>C http://identifiers.org/clinvar/9631 ^@ m.1095T>C http://identifiers.org/clinvar/9632 ^@ m.1494C>T http://identifiers.org/clinvar/9633 ^@ m.961T>G http://identifiers.org/clinvar/9634 ^@ m.827A>G http://identifiers.org/clinvar/9638 ^@ m.8393C>T http://identifiers.org/clinvar/9639 ^@ m.8529G>A http://identifiers.org/clinvar/9640 ^@ m.8528T>C http://identifiers.org/clinvar/9641 ^@ m.8993T>G http://identifiers.org/clinvar/9642 ^@ m.8993T>C http://identifiers.org/clinvar/9643 ^@ m.9101T>C http://identifiers.org/clinvar/9644 ^@ m.9176T>C http://identifiers.org/clinvar/9645 ^@ m.8851T>C http://identifiers.org/clinvar/9646 ^@ m.9205_9206delTA http://identifiers.org/clinvar/9647 ^@ m.9185T>C http://identifiers.org/clinvar/9648 ^@ m.8618dupT http://identifiers.org/clinvar/9650 ^@ m.9176T>G http://identifiers.org/clinvar/9651 ^@ m.9438G>A http://identifiers.org/clinvar/9652 ^@ m.9804G>A http://identifiers.org/clinvar/9654 ^@ m.9487_9501delTCGCAGGATTTTTCT http://identifiers.org/clinvar/9655 ^@ m.9952G>A http://identifiers.org/clinvar/9656 ^@ m.9537dupC http://identifiers.org/clinvar/9657 ^@ m.9379G>A http://identifiers.org/clinvar/9658 ^@ m.7587T>C http://identifiers.org/clinvar/9659 ^@ m.8009G>A http://identifiers.org/clinvar/9660 ^@ m.7671T>A http://identifiers.org/clinvar/9661 ^@ m.8042_8043delAT http://identifiers.org/clinvar/9662 ^@ m.7896G>A http://identifiers.org/clinvar/9663 ^@ m.7444G>A http://identifiers.org/clinvar/9664 ^@ m.6742T>C http://identifiers.org/clinvar/9665 ^@ m.6721T>C http://identifiers.org/clinvar/9666 ^@ m.6480G>A http://identifiers.org/clinvar/9667 ^@ m.6264G>A http://identifiers.org/clinvar/9668 ^@ m.6930G>A http://identifiers.org/clinvar/9669 ^@ m.5920G>A http://identifiers.org/clinvar/9670 ^@ m.6489C>A http://identifiers.org/clinvar/9671 ^@ m.6328C>T http://identifiers.org/clinvar/9672 ^@ m.6277G>A http://identifiers.org/clinvar/9673 ^@ m.7275T>C http://identifiers.org/clinvar/9674 ^@ m.15257G>A http://identifiers.org/clinvar/9675 ^@ m.15812G>A http://identifiers.org/clinvar/9676 ^@ m.14985G>A http://identifiers.org/clinvar/9677 ^@ m.15572T>C http://identifiers.org/clinvar/9678 ^@ m.15615G>A http://identifiers.org/clinvar/9679 ^@ m.14846G>A http://identifiers.org/clinvar/9680 ^@ m.15242G>A http://identifiers.org/clinvar/9681 ^@ m.15150G>A http://identifiers.org/clinvar/9682 ^@ m.15197T>C http://identifiers.org/clinvar/9683 ^@ m.15579A>G http://identifiers.org/clinvar/9684 ^@ m.15498G>A http://identifiers.org/clinvar/9685 ^@ m.14849T>C http://identifiers.org/clinvar/9686 ^@ m.14787_14790delTTAA http://identifiers.org/clinvar/9687 ^@ m.15497G>A http://identifiers.org/clinvar/9688 ^@ NC_012920.1:m.14484T>C http://identifiers.org/clinvar/9689 ^@ m.14459G>A http://identifiers.org/clinvar/9690 ^@ m.14596A>T http://identifiers.org/clinvar/9691 ^@ m.14495A>G http://identifiers.org/clinvar/9692 ^@ m.14453G>A http://identifiers.org/clinvar/9693 ^@ m.14482C>A http://identifiers.org/clinvar/9694 ^@ m.14487T>C http://identifiers.org/clinvar/9695 ^@ m.14319T>C http://identifiers.org/clinvar/9696 ^@ m.13708G>A http://identifiers.org/clinvar/9697 ^@ m.13730G>A http://identifiers.org/clinvar/9698 ^@ m.12706T>C http://identifiers.org/clinvar/9699 ^@ m.12770A>G http://identifiers.org/clinvar/9700 ^@ m.13045A>C http://identifiers.org/clinvar/9701 ^@ m.13084A>T http://identifiers.org/clinvar/9702 ^@ m.13513G>A http://identifiers.org/clinvar/9703 ^@ m.13042G>A http://identifiers.org/clinvar/9704 ^@ m.12848C>T http://identifiers.org/clinvar/9705 ^@ m.12397A>G http://identifiers.org/clinvar/9706 ^@ m.10563T>C http://identifiers.org/clinvar/9707 ^@ m.10663T>C http://identifiers.org/clinvar/9708 ^@ NC_012920.1:m.11778G>A http://identifiers.org/clinvar/9709 ^@ m.11084A>G http://identifiers.org/clinvar/9710 ^@ m.11696G>A http://identifiers.org/clinvar/9711 ^@ m.11777C>A http://identifiers.org/clinvar/9712 ^@ m.10191T>C http://identifiers.org/clinvar/9713 ^@ m.10398A>G http://identifiers.org/clinvar/9714 ^@ m.10158T>C http://identifiers.org/clinvar/9715 ^@ m.10197G>A http://identifiers.org/clinvar/9716 ^@ m.4917A>G http://identifiers.org/clinvar/9717 ^@ m.5244G>A http://identifiers.org/clinvar/9718 ^@ m.4640C>A http://identifiers.org/clinvar/9719 ^@ m.5132_5133delAA http://identifiers.org/clinvar/9720 ^@ m.4810G>A http://identifiers.org/clinvar/9721 ^@ m.4681T>C http://identifiers.org/clinvar/9722 ^@ NC_012920.1:m.3460G>A http://identifiers.org/clinvar/9723 ^@ m.4160T>C http://identifiers.org/clinvar/9724 ^@ m.4216T>C http://identifiers.org/clinvar/9725 ^@ m.3394T>C http://identifiers.org/clinvar/9726 ^@ m.3397A>G http://identifiers.org/clinvar/9727 ^@ m.4136A>G http://identifiers.org/clinvar/9728 ^@ m.3308T>C http://identifiers.org/clinvar/9729 ^@ m.3308T>G http://identifiers.org/clinvar/9730 ^@ m.3796A>G http://identifiers.org/clinvar/9731 ^@ m.3902_3908invACCTTGC http://identifiers.org/clinvar/9732 ^@ m.4171C>A http://identifiers.org/clinvar/9733 ^@ m.3697G>A http://identifiers.org/clinvar/9734 ^@ m.3946G>A http://identifiers.org/clinvar/9735 ^@ m.3949T>C http://identifiers.org/clinvar/9736 ^@ m.3733G>A http://identifiers.org/clinvar/9737 ^@ NM_003140.2(SRY):c.364_367delGAGA (p.Glu122Asnfs) http://identifiers.org/clinvar/9738 ^@ NM_003140.2(SRY):c.326T>C (p.Phe109Ser) http://identifiers.org/clinvar/9739 ^@ NM_003140.2(SRY):c.178G>C (p.Val60Leu) http://identifiers.org/clinvar/9740 ^@ NM_003140.2(SRY):c.277C>T (p.Gln93Ter) http://identifiers.org/clinvar/9741 ^@ NM_003140.2(SRY):c.270C>G (p.Ile90Met) http://identifiers.org/clinvar/9742 ^@ NM_003140.2(SRY):c.317A>T (p.Lys106Ile) http://identifiers.org/clinvar/9743 ^@ NM_003140.2(SRY):c.324delA (p.Phe109Serfs) http://identifiers.org/clinvar/9744 ^@ NM_003140.2(SRY):c.337G>A (p.Ala113Thr) http://identifiers.org/clinvar/9745 ^@ NM_003140.2(SRY):c.320G>A (p.Trp107Ter) http://identifiers.org/clinvar/9746 ^@ NM_003140.2(SRY):c.203T>C (p.Ile68Thr) http://identifiers.org/clinvar/9747 ^@ NM_003140.2(SRY):c.192G>A (p.Met64Ile) http://identifiers.org/clinvar/9748 ^@ NM_003140.2(SRY):c.209G>A (p.Trp70Ter) http://identifiers.org/clinvar/9749 ^@ NM_003140.2(SRY):c.274A>T (p.Lys92Ter) http://identifiers.org/clinvar/9750 ^@ NM_003140.2(SRY):c.283G>C (p.Gly95Arg) http://identifiers.org/clinvar/9751 ^@ NM_003140.2(SRY):c.12T>A (p.Tyr4Ter) http://identifiers.org/clinvar/9752 ^@ NM_003140.2(SRY):c.397C>T (p.Arg133Trp) http://identifiers.org/clinvar/9753 ^@ NM_003140.2(SRY):c.4C>T (p.Gln2Ter) http://identifiers.org/clinvar/9754 ^@ NM_003140.2(SRY):c.53G>A (p.Ser18Asn) http://identifiers.org/clinvar/9755 ^@ NM_003140.2(SRY):c.284G>A (p.Gly95Glu) http://identifiers.org/clinvar/9756 ^@ NM_003140.2(SRY):c.380A>T (p.Tyr127Phe) http://identifiers.org/clinvar/9757 ^@ USP9Y, IVS7DS, 4-BP DEL http://identifiers.org/clinvar/9758 ^@ USP9Y, DEL http://identifiers.org/clinvar/9759 ^@ NM_007137.3(ZNF81):c.536G>A (p.Ser179Asn) http://identifiers.org/clinvar/9760 ^@ NM_153380.3(ZNF41):c.332C>T (p.Pro111Leu) http://identifiers.org/clinvar/9761 ^@ NM_007130.3(ZNF41):c.73-42A>C http://identifiers.org/clinvar/9762 ^@ ZNF711, 2-BP DEL, 2157TG http://identifiers.org/clinvar/9763 ^@ NM_021998.4(ZNF711):c.1573A>T (p.Arg525Ter) http://identifiers.org/clinvar/9764 ^@ XK, IVS2DS, G-A, +1 http://identifiers.org/clinvar/9765 ^@ XK, IVS2AS, G-A, -1 http://identifiers.org/clinvar/9766 ^@ XK, 1-BP DEL http://identifiers.org/clinvar/9767 ^@ XK, 1-BP DEL, 1095T http://identifiers.org/clinvar/9768 ^@ NM_021083.3(XK):c.880T>C (p.Cys294Arg) http://identifiers.org/clinvar/9769 ^@ XK, 13-BP DEL http://identifiers.org/clinvar/9770 ^@ NM_021083.3(XK):c.941G>A (p.Trp314Ter) http://identifiers.org/clinvar/9771 ^@ NM_021083.3(XK):c.895C>T (p.Gln299Ter) http://identifiers.org/clinvar/9772 ^@ NM_004187.3(KDM5C):c.2191C>T (p.Leu731Phe) http://identifiers.org/clinvar/9773 ^@ KDM5C, 1-BP INS, 202C http://identifiers.org/clinvar/9774 ^@ NM_004187.3(KDM5C):c.1162G>C (p.Ala388Pro) http://identifiers.org/clinvar/9775 ^@ NM_004187.3(KDM5C):c.2080C>T (p.Arg694Ter) http://identifiers.org/clinvar/9776 ^@ NM_004187.3(KDM5C):c.1353C>G (p.Ser451Arg) http://identifiers.org/clinvar/9777 ^@ NM_004187.3(KDM5C):c.2296C>T (p.Arg766Trp) http://identifiers.org/clinvar/9778 ^@ NM_004187.3(KDM5C):c.229G>A (p.Ala77Thr) http://identifiers.org/clinvar/9779 ^@ XIST, C-G, -43 http://identifiers.org/clinvar/9780 ^@ NM_003334.3(UBA1):c.1617G>T (p.Met539Ile) http://identifiers.org/clinvar/9781 ^@ NM_003334.3(UBA1):c.1639A>G (p.Ser547Gly) http://identifiers.org/clinvar/9782 ^@ NM_003334.3(UBA1):c.1731C>T (p.Asn577=) http://identifiers.org/clinvar/9783 ^@ NM_000354.5(SERPINA7):c.740T>C (p.Leu247Pro) http://identifiers.org/clinvar/9784 ^@ NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) http://identifiers.org/clinvar/9785 ^@ NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) http://identifiers.org/clinvar/9786 ^@ NM_000354.5(SERPINA7):c.571G>A (p.Asp191Asn) http://identifiers.org/clinvar/9787 ^@ NM_000354.5(SERPINA7):c.1051C>T (p.His351Tyr) http://identifiers.org/clinvar/9788 ^@ NM_000354.5(SERPINA7):c.397G>C (p.Ala133Pro) http://identifiers.org/clinvar/9789 ^@ NM_000354.5(SERPINA7):c.555delT (p.Val186Trpfs) http://identifiers.org/clinvar/9790 ^@ NM_000354.5(SERPINA7):c.347T>A (p.Ile116Asn) http://identifiers.org/clinvar/9791 ^@ NM_000354.5(SERPINA7):c.1114delC (p.Leu372Phefs) http://identifiers.org/clinvar/9792 ^@ NM_000354.5(SERPINA7):c.986A>T (p.Tyr329Phe) http://identifiers.org/clinvar/9793 ^@ TBG, DUP http://identifiers.org/clinvar/9794 ^@ NM_000354.5(SERPINA7):c.1148C>T (p.Pro383Leu) http://identifiers.org/clinvar/9795 ^@ NM_000354.5(SERPINA7):c.899G>A (p.Trp300Ter) http://identifiers.org/clinvar/9796 ^@ NM_000354.5(SERPINA7):c.623-2A>G http://identifiers.org/clinvar/9797 ^@ NM_000354.5(SERPINA7):c.174delT (p.Val59Trpfs) http://identifiers.org/clinvar/9798 ^@ TBG, 19-BP DEL, EX4 http://identifiers.org/clinvar/9799 ^@ TBG, 1-BP DEL, 2690G http://identifiers.org/clinvar/9800 ^@ TBG, 1-BP DEL, 3358G http://identifiers.org/clinvar/9801 ^@ NM_000354.5(SERPINA7):c.1044+5G>A http://identifiers.org/clinvar/9802 ^@ AR, PARTIAL DEL http://identifiers.org/clinvar/9803 ^@ AR, PARTIAL DEL http://identifiers.org/clinvar/9804 ^@ NM_000044.4(AR):c.2323C>T (p.Arg775Cys) http://identifiers.org/clinvar/9805 ^@ NM_000044.4(AR):c.2157G>A (p.Trp719Ter) http://identifiers.org/clinvar/9806 ^@ NM_000044.4(AR):c.2599G>A (p.Val867Met) http://identifiers.org/clinvar/9807 ^@ NM_000044.4(AR):c.2391G>A (p.Trp797Ter) http://identifiers.org/clinvar/9808 ^@ NM_000044.4(AR):c.1771A>T (p.Lys591Ter) http://identifiers.org/clinvar/9809 ^@ NM_000044.4(AR):c.1943G>A (p.Ser648Asn) http://identifiers.org/clinvar/9810 ^@ NM_000044.4(AR):c.2291A>G (p.Tyr764Cys) http://identifiers.org/clinvar/9811 ^@ NM_000044.4(AR):c.2650A>T (p.Lys884Ter) http://identifiers.org/clinvar/9813 ^@ NM_000044.4(AR):c.1789G>A (p.Ala597Thr) http://identifiers.org/clinvar/9814 ^@ NM_000044.4(AR):c.2362A>G (p.Met788Val) http://identifiers.org/clinvar/9815 ^@ NM_000044.4(AR):c.180_181delGC (p.Gln61Alafs) http://identifiers.org/clinvar/9816 ^@ NM_000044.4(AR):c.2571C>G (p.Phe857Leu) http://identifiers.org/clinvar/9817 ^@ NM_000044.4(AR):c.2191G>A (p.Val731Met) http://identifiers.org/clinvar/9818 ^@ NM_000044.4(AR):c.172_174CAG(10_36) (p.Gln69_Gln80del) http://identifiers.org/clinvar/9819 ^@ NM_000044.4(AR):c.2324G>A (p.Arg775His) http://identifiers.org/clinvar/9820 ^@ NM_000044.4(AR):c.1823G>A (p.Arg608Gln) http://identifiers.org/clinvar/9822 ^@ NM_000044.4(AR):c.2599G>T (p.Val867Leu) http://identifiers.org/clinvar/9823 ^@ NM_000044.4(AR):c.2567G>A (p.Arg856His) http://identifiers.org/clinvar/9824 ^@ NM_000044.4(AR):c.2610T>G (p.Ile870Met) http://identifiers.org/clinvar/9825 ^@ NM_000044.4(AR):c.178C>T (p.Gln60Ter) http://identifiers.org/clinvar/9826 ^@ NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del http://identifiers.org/clinvar/9827 ^@ NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del http://identifiers.org/clinvar/9828 ^@ NM_000044.4(AR):c.1826G>A (p.Arg609Lys) http://identifiers.org/clinvar/9829 ^@ NM_000044.4(AR):c.2522G>A (p.Arg841His) http://identifiers.org/clinvar/9830 ^@ NM_000044.4(AR):c.2521C>T (p.Arg841Cys) http://identifiers.org/clinvar/9831 ^@ NM_000044.4(AR):c.2632A>G (p.Thr878Ala) http://identifiers.org/clinvar/9832 ^@ NM_000044.4(AR):c.2033T>C (p.Leu678Pro) http://identifiers.org/clinvar/9833 ^@ NM_000044.4(AR):c.2633C>G (p.Thr878Ser) http://identifiers.org/clinvar/9834 ^@ NM_000044.4(AR):c.2623C>T (p.His875Tyr) http://identifiers.org/clinvar/9835 ^@ NM_000044.4(AR):c.2708A>G (p.Gln903Arg) http://identifiers.org/clinvar/9836 ^@ NM_000044.4(AR):c.2164G>A (p.Ala722Thr) http://identifiers.org/clinvar/9837 ^@ NM_000044.4(AR):c.2123T>G (p.Leu708Arg) http://identifiers.org/clinvar/9838 ^@ NM_000044.4(AR):c.1739G>T (p.Cys580Phe) http://identifiers.org/clinvar/9839 ^@ NM_000044.4(AR):c.1748T>A (p.Phe583Tyr) http://identifiers.org/clinvar/9840 ^@ NM_000044.4(AR):c.1645C>T (p.Pro549Ser) http://identifiers.org/clinvar/9841 ^@ NM_000044.4(AR):c.4G>A (p.Glu2Lys) http://identifiers.org/clinvar/9842 ^@ NM_000044.4(AR):c.2343G>T (p.Met781Ile) http://identifiers.org/clinvar/9844 ^@ AR, IVS2AS, T-A, -11 http://identifiers.org/clinvar/9845 ^@ NM_000044.4(AR):c.521T>G (p.Leu174Ter) http://identifiers.org/clinvar/9846 ^@ NM_000044.4(AR):c.2395C>G (p.Gln799Glu) http://identifiers.org/clinvar/9847 ^@ NM_000044.4(AR):c.2423T>C (p.Met808Thr) http://identifiers.org/clinvar/9848 ^@ NM_000044.4(AR):c.179dupA (p.Gln61Alafs) http://identifiers.org/clinvar/9849 ^@ NM_000044.4(AR):c.2180G>T (p.Arg727Leu) http://identifiers.org/clinvar/9850 ^@ NM_000044.4(AR):c.2667C>T (p.Ser889=) http://identifiers.org/clinvar/9851 ^@ AR, IVS6, G-T, +5 http://identifiers.org/clinvar/9852 ^@ NM_000044.4(AR):c.2137C>T (p.Leu713Phe) http://identifiers.org/clinvar/9853 ^@ NM_000044.4(AR):c.1732G>A (p.Gly578Arg) http://identifiers.org/clinvar/9854 ^@ NM_000044.4(AR):c.2596T>C (p.Ser866Pro) http://identifiers.org/clinvar/9856 ^@ NM_000044.4(AR):c.2069A>C (p.His690Pro) http://identifiers.org/clinvar/9857 ^@ NM_000044.4(AR):c.2231G>T (p.Gly744Val) http://identifiers.org/clinvar/9858 ^@ NM_000044.4(AR):c.2231G>A (p.Gly744Glu) http://identifiers.org/clinvar/9859 ^@ NM_000044.4(AR):c.2281_2287delAGGATGCinsTTCGCCCCTGA (p.Arg761Phefs) http://identifiers.org/clinvar/9860 ^@ NM_000044.4(AR):c.2222C>G (p.Ser741Cys) http://identifiers.org/clinvar/9861 ^@ NM_000044.4(AR):c.1937C>A (p.Ala646Asp) http://identifiers.org/clinvar/9862 ^@ TAF1, SVA RETROTRANSPOSON INSERTION http://identifiers.org/clinvar/9863 ^@ SYP, 1-BP INS, 274A http://identifiers.org/clinvar/9864 ^@ SYP, 2-BP DEL/INS http://identifiers.org/clinvar/9865 ^@ SYP, 4-BP DEL, 829GACT http://identifiers.org/clinvar/9866 ^@ NM_003179.2(SYP):c.649G>C (p.Gly217Arg) http://identifiers.org/clinvar/9867 ^@ NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) http://identifiers.org/clinvar/9868 ^@ SOX3, 33-BP DUP, NT711-743 http://identifiers.org/clinvar/9869 ^@ SOX3, DUP http://identifiers.org/clinvar/9870 ^@ SOX3, 21-BP DUP http://identifiers.org/clinvar/9872 ^@ NM_000451.3(SHOX):c.583C>T (p.Arg195Ter) http://identifiers.org/clinvar/9873 ^@ NM_000451.3(SHOX):c.597C>G (p.Tyr199Ter) http://identifiers.org/clinvar/9874 ^@ SHOX, DEL http://identifiers.org/clinvar/9875 ^@ NM_000451.3(SHOX):c.394C>G (p.Leu132Val) http://identifiers.org/clinvar/9876 ^@ NM_000451.3(SHOX):c.458G>T (p.Arg153Leu) http://identifiers.org/clinvar/9877 ^@ SHOX, 1-BP DEL, 1272G http://identifiers.org/clinvar/9878 ^@ NM_000451.3(SHOX):c.517C>T (p.Arg173Cys) http://identifiers.org/clinvar/9879 ^@ NM_000451.3(SHOX):c.502C>T (p.Arg168Trp) http://identifiers.org/clinvar/9880 ^@ SHOX, 1-BP INS, 723C http://identifiers.org/clinvar/9881 ^@ SHOX, 2-BP INS, 350AG http://identifiers.org/clinvar/9882 ^@ NM_000451.3(SHOX):c.304G>T (p.Glu102Ter) http://identifiers.org/clinvar/9883 ^@ NM_000451.3(SHOX):c.877T>C (p.Ter293Arg) http://identifiers.org/clinvar/9884 ^@ SHOX, 1.1-MB DEL http://identifiers.org/clinvar/9885 ^@ NM_000868.3(HTR2C):c.68G>C (p.Cys23Ser) http://identifiers.org/clinvar/9886 ^@ NM_000330.3(RS1):c.286T>C (p.Trp96Arg) http://identifiers.org/clinvar/9887 ^@ NM_000330.3(RS1):c.304C>T (p.Arg102Trp) http://identifiers.org/clinvar/9888 ^@ NM_000330.3(RS1):c.214G>A (p.Glu72Lys) http://identifiers.org/clinvar/9889 ^@ NM_000330.3(RS1):c.216G>C (p.Glu72Asp) http://identifiers.org/clinvar/9890 ^@ NM_000330.3(RS1):c.221G>T (p.Gly74Val) http://identifiers.org/clinvar/9891 ^@ NM_000330.3(RS1):c.325G>C (p.Gly109Arg) http://identifiers.org/clinvar/9892 ^@ NM_000330.3(RS1):c.38T>C (p.Leu13Pro) http://identifiers.org/clinvar/9893 ^@ NM_000330.3(RS1):c.667T>C (p.Cys223Arg) http://identifiers.org/clinvar/9894 ^@ RS1, 4-BP INS http://identifiers.org/clinvar/9895 ^@ NM_000330.3(RS1):c.608C>T (p.Pro203Leu) http://identifiers.org/clinvar/9896 ^@ NM_000330.3(RS1):c.305G>A (p.Arg102Gln) http://identifiers.org/clinvar/9897 ^@ NM_000328.2(RPGR):c.389T>G (p.Phe130Cys) http://identifiers.org/clinvar/9898 ^@ NM_000328.2(RPGR):c.703C>T (p.Pro235Ser) http://identifiers.org/clinvar/9899 ^@ NM_000328.2(RPGR):c.823G>A (p.Gly275Ser) http://identifiers.org/clinvar/9900 ^@ RPGR, 4-BP DEL, NT1433 http://identifiers.org/clinvar/9901 ^@ RPGR, IVS10DS, A-G, +3 http://identifiers.org/clinvar/9902 ^@ NM_000328.2(RPGR):c.179G>T (p.Gly60Val) http://identifiers.org/clinvar/9903 ^@ RPGR, 2-BP DEL, 652AG http://identifiers.org/clinvar/9904 ^@ RPGR, 2-BP DEL, NT1571 http://identifiers.org/clinvar/9905 ^@ RPGR, EX15ADEL http://identifiers.org/clinvar/9906 ^@ NM_000328.2(RPGR):c.296C>A (p.Thr99Asn) http://identifiers.org/clinvar/9907 ^@ RPGR, 2-BP DEL, 673AG http://identifiers.org/clinvar/9908 ^@ NM_001034853.1(RPGR):c.2650G>T (p.Glu884Ter) http://identifiers.org/clinvar/9909 ^@ RPGR, 1-BP INS, 173A http://identifiers.org/clinvar/9910 ^@ NM_001034853.1(RPGR):c.3096_3097delGG (p.Glu1033Argfs) http://identifiers.org/clinvar/9911 ^@ NM_001034853.1(RPGR):c.3092_3093delAG (p.Glu1031Glyfs) http://identifiers.org/clinvar/9912 ^@ RPGR, IVS5, G-T, +1 http://identifiers.org/clinvar/9913 ^@ RPGR, IVS15, G-T, +1164 http://identifiers.org/clinvar/9914 ^@ RPGR, 15-BP DEL, NT694 http://identifiers.org/clinvar/9915 ^@ RPGR, 2-BP DEL, 845TG http://identifiers.org/clinvar/9916 ^@ NM_000328.2(RPGR):c.517G>C (p.Gly173Arg) http://identifiers.org/clinvar/9917 ^@ NM_001034853.1(RPGR):c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) http://identifiers.org/clinvar/9918 ^@ NM_001034853.1(RPGR):c.2929G>T (p.Gly977Ter) http://identifiers.org/clinvar/9919 ^@ RPGR, 57-BP DEL, NT631 http://identifiers.org/clinvar/9920 ^@ RPGR, 912G-T http://identifiers.org/clinvar/9921 ^@ RPGR, IVS9AS, G-A, -55 http://identifiers.org/clinvar/9922 ^@ NM_003336.3(UBE2A):c.382C>T (p.Gln128Ter) http://identifiers.org/clinvar/9923 ^@ NM_002637.3(PHKA1):c.3334G>T (p.Glu1112Ter) http://identifiers.org/clinvar/9924 ^@ PHKA1, IVSL, G-C, +1 http://identifiers.org/clinvar/9925 ^@ NM_002637.3(PHKA1):c.896A>T (p.Asp299Val) http://identifiers.org/clinvar/9926 ^@ PHKA1, 1-BP DEL, 695C http://identifiers.org/clinvar/9927 ^@ NM_002637.3(PHKA1):c.667G>A (p.Gly223Arg) http://identifiers.org/clinvar/9928 ^@ NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) http://identifiers.org/clinvar/9929 ^@ NM_002764.3(PRPS1):c.547G>C (p.Asp183His) http://identifiers.org/clinvar/9930 ^@ NM_002764.3(PRPS1):c.154G>C (p.Asp52His) http://identifiers.org/clinvar/9931 ^@ NM_002764.3(PRPS1):c.385C>A (p.Leu129Ile) http://identifiers.org/clinvar/9932 ^@ NM_002764.3(PRPS1):c.569C>T (p.Ala190Val) http://identifiers.org/clinvar/9933 ^@ NM_002764.3(PRPS1):c.579C>G (p.His193Gln) http://identifiers.org/clinvar/9934 ^@ NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) http://identifiers.org/clinvar/9935 ^@ NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) http://identifiers.org/clinvar/9936 ^@ NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) http://identifiers.org/clinvar/9937 ^@ NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) http://identifiers.org/clinvar/9938 ^@ NM_002764.3(PRPS1):c.193G>A (p.Asp65Asn) http://identifiers.org/clinvar/9939 ^@ NM_002764.3(PRPS1):c.259G>A (p.Ala87Thr) http://identifiers.org/clinvar/9940 ^@ NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg) http://identifiers.org/clinvar/9941 ^@ NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr) http://identifiers.org/clinvar/9942 ^@ NM_000291.3(PGK1):c.802G>A (p.Asp268Asn) http://identifiers.org/clinvar/9943 ^@ NM_000291.3(PGK1):c.617G>C (p.Arg206Pro) http://identifiers.org/clinvar/9944 ^@ NM_000291.3(PGK1):c.796_798delGTCinsATG (p.Val266Met) http://identifiers.org/clinvar/9945 ^@ NM_000291.3(PGK1):c.1055C>A (p.Thr352Asn) http://identifiers.org/clinvar/9946 ^@ NM_000291.3(PGK1):c.263T>C (p.Leu88Pro) http://identifiers.org/clinvar/9947 ^@ NM_000291.3(PGK1):c.473G>T (p.Gly158Val) http://identifiers.org/clinvar/9948 ^@ NM_000291.3(PGK1):c.946T>C (p.Cys316Arg) http://identifiers.org/clinvar/9949 ^@ NM_000291.3(PGK1):c.574_576delAAG (p.Lys192del) http://identifiers.org/clinvar/9950 ^@ NM_000291.3(PGK1):c.758T>C (p.Ile253Thr) http://identifiers.org/clinvar/9951 ^@ NM_000291.3(PGK1):c.854A>T (p.Asp285Val) http://identifiers.org/clinvar/9952 ^@ NM_000291.3(PGK1):c.140T>A (p.Ile47Asn) http://identifiers.org/clinvar/9953 ^@ NM_000291.3(PGK1):c.959G>A (p.Ser320Asn) http://identifiers.org/clinvar/9954 ^@ NM_000291.3(PGK1):c.491A>T (p.Asp164Val) http://identifiers.org/clinvar/9955 ^@ NM_000291.3(PGK1):c.756+5G>A http://identifiers.org/clinvar/9956 ^@ NM_000291.3(PGK1):c.1132A>C (p.Thr378Pro) http://identifiers.org/clinvar/9957 ^@ NM_002641.3(PIGA):c.1188+2delT http://identifiers.org/clinvar/9958 ^@ NM_002641.3(PIGA):c.294C>A (p.Tyr98Ter) http://identifiers.org/clinvar/9959 ^@ NM_002641.3(PIGA):c.459_460insA (p.His154Thrfs) http://identifiers.org/clinvar/9960 ^@ NM_002641.3(PIGA):c.1115delC (p.Pro372Glnfs) http://identifiers.org/clinvar/9961 ^@ NM_002641.3(PIGA):c.163C>T (p.Gln55Ter) http://identifiers.org/clinvar/9962 ^@ NM_002641.3(PIGA):c.249_250insGT (p.Thr84Valfs) http://identifiers.org/clinvar/9963 ^@ NM_002641.3(PIGA):c.431delC (p.Thr144Lysfs) http://identifiers.org/clinvar/9964 ^@ NM_002641.3(PIGA):c.1323_1324delCT (p.Leu442Glufs) http://identifiers.org/clinvar/9965 ^@ PIGA, IVS5DS, G-A, +1, SOMATIC http://identifiers.org/clinvar/9966 ^@ NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452Glufs) http://identifiers.org/clinvar/9967 ^@ NM_000240.3(MAOA):c.886C>T (p.Gln296Ter) http://identifiers.org/clinvar/9968 ^@ NM_000240.3(MAOA):c.-1241_-1212ACCGGCACCGGCACCAGTACCCGCACCAGT(3_5) http://identifiers.org/clinvar/9969 ^@ NM_002024.5(FMR1):c.911T>A (p.Ile304Asn) http://identifiers.org/clinvar/9970 ^@ FMR1, 1-BP DEL, 373A http://identifiers.org/clinvar/9971 ^@ FMR1, IVS2AS1, G-T, -1 AND G-A, +1 http://identifiers.org/clinvar/9972 ^@ FMR1, (CGG)n EXPANSION http://identifiers.org/clinvar/9973 ^@ LAMP2, 2-BP DEL, 1097AA http://identifiers.org/clinvar/9974 ^@ NM_001122606.1(LAMP2):c.440T>A (p.Leu147Ter) http://identifiers.org/clinvar/9975 ^@ LAMP2, IVS6, G-C, +5 http://identifiers.org/clinvar/9976 ^@ LAMP2, 1-BP INS, 974A http://identifiers.org/clinvar/9977 ^@ LAMP2, IVS5, G-A, +1 http://identifiers.org/clinvar/9978 ^@ LAMP2, 1-BP DEL, 14G http://identifiers.org/clinvar/9979 ^@ LAMP2, 1-BP INS, 883T http://identifiers.org/clinvar/9980 ^@ LAMP2, 7-BP DEL http://identifiers.org/clinvar/9981 ^@ NM_001122606.1(LAMP2):c.520C>T (p.Gln174Ter) http://identifiers.org/clinvar/9982 ^@ NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) http://identifiers.org/clinvar/9983 ^@ NM_001122606.1(LAMP2):c.961T>C (p.Trp321Arg) http://identifiers.org/clinvar/9984 ^@ LAMP2, 1-BP DEL, 1219A http://identifiers.org/clinvar/9985 ^@ NM_000425.4(L1CAM):c.2432-19A>C http://identifiers.org/clinvar/9986 ^@ NM_000425.4(L1CAM):c.791G>A (p.Cys264Tyr) http://identifiers.org/clinvar/9987 ^@ L1CAM, 1.3-KB DUP http://identifiers.org/clinvar/9988 ^@ NM_000425.4(L1CAM):c.630C>A (p.His210Gln) http://identifiers.org/clinvar/9989 ^@ NM_000425.4(L1CAM):c.1792G>A (p.Asp598Asn) http://identifiers.org/clinvar/9990 ^@ NM_000425.4(L1CAM):c.1354G>A (p.Gly452Arg) http://identifiers.org/clinvar/9991 ^@ NM_000425.4(L1CAM):c.551G>A (p.Arg184Gln) http://identifiers.org/clinvar/9992 ^@ NM_000425.4(L1CAM):c.3489_3490delTG (p.Glu1164Glyfs) http://identifiers.org/clinvar/9993 ^@ NM_000425.4(L1CAM):c.3581C>T (p.Ser1194Leu) http://identifiers.org/clinvar/9994 ^@ NM_000425.4(L1CAM):c.536T>G (p.Ile179Ser) http://identifiers.org/clinvar/9995 ^@ NM_000425.4(L1CAM):c.1108G>A (p.Gly370Arg) http://identifiers.org/clinvar/9996 ^@ NM_000425.4(L1CAM):c.2421_2422delTG (p.Gly808Argfs) http://identifiers.org/clinvar/9998 ^@ NM_000425.4(L1CAM):c.2254G>A (p.Val752Met) http://identifiers.org/clinvar/9999 ^@ NM_000425.4(L1CAM):c.1939+5G>A http://identifiers.org/clinvar/10000 ^@ NM_000425.4(L1CAM):c.2974C>T (p.Gln992Ter) http://identifiers.org/clinvar/10001 ^@ NM_000425.4(L1CAM):c.719C>T (p.Pro240Leu) http://identifiers.org/clinvar/10002 ^@ KAL1, 3,300-BP DEL http://identifiers.org/clinvar/10003 ^@ NM_000216.3(ANOS1):c.711G>A (p.Trp237Ter) http://identifiers.org/clinvar/10004 ^@ NM_000216.3(ANOS1):c.769C>T (p.Arg257Ter) http://identifiers.org/clinvar/10005 ^@ NM_000216.3(ANOS1):c.774G>A (p.Trp258Ter) http://identifiers.org/clinvar/10006 ^@ KAL1, 1-BP DEL, PRO277FS http://identifiers.org/clinvar/10007 ^@ KAL1, EX3-5DEL http://identifiers.org/clinvar/10008 ^@ NM_000216.3(ANOS1):c.1540G>A (p.Glu514Lys) http://identifiers.org/clinvar/10009 ^@ KAL1, EX5DEL http://identifiers.org/clinvar/10010 ^@ KAL1, 11-BP DUP, NT158 http://identifiers.org/clinvar/10011 ^@ NM_000216.3(ANOS1):c.784C>T (p.Arg262Ter) http://identifiers.org/clinvar/10012 ^@ KAL1, EX3-13 DEL http://identifiers.org/clinvar/10013 ^@ NM_000216.3(ANOS1):c.1187C>T (p.Ser396Leu) http://identifiers.org/clinvar/10014 ^@ KAL1, EX3-6 DEL http://identifiers.org/clinvar/10015 ^@ NM_000216.3(ANOS1):c.1062+1G>T http://identifiers.org/clinvar/10016 ^@ NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter) http://identifiers.org/clinvar/10017 ^@ IL2RG, ARG267TER http://identifiers.org/clinvar/10018 ^@ NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter) http://identifiers.org/clinvar/10019 ^@ NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter) http://identifiers.org/clinvar/10020 ^@ NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp) http://identifiers.org/clinvar/10021 ^@ IL2RG, IVS3DS, G-A, +1 http://identifiers.org/clinvar/10022 ^@ NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn) http://identifiers.org/clinvar/10023 ^@ NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln) http://identifiers.org/clinvar/10024 ^@ NM_000206.2(IL2RG):c.703_711dupCAGCATTGG (p.Trp237_Ser238insGlnHisTrp) http://identifiers.org/clinvar/10025 ^@ NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg) http://identifiers.org/clinvar/10026 ^@ NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) http://identifiers.org/clinvar/10027 ^@ NM_000206.2(IL2RG):c.664C>T (p.Arg222Cys) http://identifiers.org/clinvar/10028 ^@ NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro) http://identifiers.org/clinvar/10029 ^@ NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) http://identifiers.org/clinvar/10030 ^@ NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) http://identifiers.org/clinvar/10031 ^@ NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) http://identifiers.org/clinvar/10032 ^@ HPRT CHICAGO http://identifiers.org/clinvar/10033 ^@ HPRT CONNERSVILLE http://identifiers.org/clinvar/10034 ^@ NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) http://identifiers.org/clinvar/10035 ^@ NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) http://identifiers.org/clinvar/10036 ^@ NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) http://identifiers.org/clinvar/10037 ^@ NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) http://identifiers.org/clinvar/10038 ^@ NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) http://identifiers.org/clinvar/10039 ^@ HPRT MICHIGAN http://identifiers.org/clinvar/10040 ^@ NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) http://identifiers.org/clinvar/10041 ^@ NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) http://identifiers.org/clinvar/10042 ^@ NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) http://identifiers.org/clinvar/10043 ^@ NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) http://identifiers.org/clinvar/10044 ^@ NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) http://identifiers.org/clinvar/10045 ^@ NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) http://identifiers.org/clinvar/10046 ^@ NM_000194.2(HPRT1):c.325C>T (p.Gln109Ter) http://identifiers.org/clinvar/10047 ^@ NM_000194.2(HPRT1):c.610C>G (p.His204Asp) http://identifiers.org/clinvar/10048 ^@ NM_000194.2(HPRT1):c.134G>A (p.Arg45Lys) http://identifiers.org/clinvar/10049 ^@ NM_000194.2(HPRT1):c.529G>T (p.Asp177Tyr) http://identifiers.org/clinvar/10050 ^@ HPRT, 2-BP DEL, GT http://identifiers.org/clinvar/10051 ^@ HPRT, 1-BP DEL, TTA-TA http://identifiers.org/clinvar/10052 ^@ HPRT, 1-BP DEL, TTG-TG http://identifiers.org/clinvar/10053 ^@ HPRT, 40-BP DEL http://identifiers.org/clinvar/10054 ^@ HPRT, IVS8DS, G-A, +5 http://identifiers.org/clinvar/10055 ^@ NM_000194.2(HPRT1):c.610-4_610-2delATAinsTTT http://identifiers.org/clinvar/10056 ^@ HPRT, IVS7DS, G-A, +5 http://identifiers.org/clinvar/10057 ^@ HPRT, IVS1AS, A-T, -2 http://identifiers.org/clinvar/10058 ^@ NM_000194.2(HPRT1):c.527C>T (p.Pro176Leu) http://identifiers.org/clinvar/10059 ^@ NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) http://identifiers.org/clinvar/10060 ^@ NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) http://identifiers.org/clinvar/10061 ^@ NM_000194.2(HPRT1):c.170T>C (p.Met57Thr) http://identifiers.org/clinvar/10062 ^@ NM_000194.2(HPRT1):c.428T>A (p.Met143Lys) http://identifiers.org/clinvar/10063 ^@ NM_000194.2(HPRT1):c.508C>T (p.Arg170Ter) http://identifiers.org/clinvar/10064 ^@ HPRT, 13-BP DEL, 5-PRIME UTR http://identifiers.org/clinvar/10065 ^@ HPRT, EX2DEL http://identifiers.org/clinvar/10066 ^@ HPRT, EX4-9DEL http://identifiers.org/clinvar/10067 ^@ NG_012329.1:g.(38034_38038)_(46028_46032)del http://identifiers.org/clinvar/10068 ^@ HPRT, EX9DEL http://identifiers.org/clinvar/10069 ^@ HPRT, DEL http://identifiers.org/clinvar/10070 ^@ HPRT,1-BP INS, 207G http://identifiers.org/clinvar/10071 ^@ HPRT, INV/DEL, EX6-9 http://identifiers.org/clinvar/10072 ^@ HPRT, EX2-3DUP, IVS1DEL http://identifiers.org/clinvar/10073 ^@ NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) http://identifiers.org/clinvar/10074 ^@ NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) http://identifiers.org/clinvar/10075 ^@ NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) http://identifiers.org/clinvar/10076 ^@ NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) http://identifiers.org/clinvar/10077 ^@ HPRT CHERMSIDE http://identifiers.org/clinvar/10078 ^@ HPRT COORPAROO http://identifiers.org/clinvar/10079 ^@ NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) http://identifiers.org/clinvar/10080 ^@ NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) http://identifiers.org/clinvar/10081 ^@ NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) http://identifiers.org/clinvar/10082 ^@ NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) http://identifiers.org/clinvar/10083 ^@ NM_000194.2(HPRT1):c.-707_27+2236del http://identifiers.org/clinvar/10084 ^@ NM_000194.2(HPRT1):c.193C>T (p.Leu65Phe) http://identifiers.org/clinvar/10085 ^@ NM_000132.3(F8):c.6976C>T (p.Arg2326Ter) http://identifiers.org/clinvar/10086 ^@ NM_000132.3(F8):c.6682C>T (p.Arg2228Ter) http://identifiers.org/clinvar/10087 ^@ F8, EX26DEL http://identifiers.org/clinvar/10088 ^@ NM_000132.3(F8):c.6403C>T (p.Arg2135Ter) http://identifiers.org/clinvar/10089 ^@ F8, EX6DEL http://identifiers.org/clinvar/10090 ^@ F8, EX14DEL http://identifiers.org/clinvar/10091 ^@ F8, EX24-25DEL http://identifiers.org/clinvar/10092 ^@ F8, EX23-25DEL http://identifiers.org/clinvar/10093 ^@ F8, EX22DEL http://identifiers.org/clinvar/10094 ^@ F8, EX26DEL http://identifiers.org/clinvar/10095 ^@ F8, EX1DEL http://identifiers.org/clinvar/10096 ^@ NM_000132.3(F8):c.6496C>T (p.Arg2166Ter) http://identifiers.org/clinvar/10097 ^@ NM_000132.3(F8):c.601+1632G>A http://identifiers.org/clinvar/10098 ^@ NM_000132.3(F8):c.6683G>A (p.Arg2228Gln) http://identifiers.org/clinvar/10099 ^@ NM_000132.3(F8):c.872A>G (p.Glu291Gly) http://identifiers.org/clinvar/10100 ^@ F8, EX2-3DEL http://identifiers.org/clinvar/10101 ^@ F8, EX3-13DEL http://identifiers.org/clinvar/10102 ^@ F8, EX4-25DEL http://identifiers.org/clinvar/10103 ^@ F8, EX7-14DEL http://identifiers.org/clinvar/10104 ^@ F8, LINE INS, IVS10 http://identifiers.org/clinvar/10105 ^@ F8, EX26DEL http://identifiers.org/clinvar/10106 ^@ F8, LINE INS, EX14 http://identifiers.org/clinvar/10107 ^@ F8, EX15DEL http://identifiers.org/clinvar/10108 ^@ F8, 2-BP DEL, EX8 http://identifiers.org/clinvar/10109 ^@ NM_000132.3(F8):c.6977G>T (p.Arg2326Leu) http://identifiers.org/clinvar/10110 ^@ NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) http://identifiers.org/clinvar/10111 ^@ NM_000132.3(F8):c.1172G>A (p.Arg391His) http://identifiers.org/clinvar/10112 ^@ NM_000132.3(F8):c.5113C>T (p.Gln1705Ter) http://identifiers.org/clinvar/10113 ^@ F8, EX14DEL http://identifiers.org/clinvar/10114 ^@ NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) http://identifiers.org/clinvar/10115 ^@ NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) http://identifiers.org/clinvar/10116 ^@ NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys) http://identifiers.org/clinvar/10117 ^@ F8, EX11-18DEL http://identifiers.org/clinvar/10118 ^@ NM_000132.3(F8):c.5878C>T (p.Arg1960Ter) http://identifiers.org/clinvar/10119 ^@ F8, EX3DEL http://identifiers.org/clinvar/10120 ^@ F8, 7-KB DEL, IVS1 http://identifiers.org/clinvar/10121 ^@ F8, EX1-5DEL http://identifiers.org/clinvar/10122 ^@ F8, EX1-22DEL http://identifiers.org/clinvar/10123 ^@ F8, EX26DEL http://identifiers.org/clinvar/10124 ^@ F8, EX1-26DEL http://identifiers.org/clinvar/10125 ^@ NM_000132.3(F8):c.1171C>T (p.Arg391Cys) http://identifiers.org/clinvar/10126 ^@ NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) http://identifiers.org/clinvar/10127 ^@ NM_000132.3(F8):c.6554T>C (p.Leu2185Ser) http://identifiers.org/clinvar/10128 ^@ NM_000132.3(F8):c.6404G>C (p.Arg2135Pro) http://identifiers.org/clinvar/10129 ^@ NM_000132.3(F8):c.566C>T (p.Ser189Leu) http://identifiers.org/clinvar/10130 ^@ F8, EX15-18DEL http://identifiers.org/clinvar/10131 ^@ NM_000132.3(F8):c.2114-?_5219+?del (p.?) http://identifiers.org/clinvar/10132 ^@ F8, EX23-25DEL http://identifiers.org/clinvar/10133 ^@ F8, EX14DEL http://identifiers.org/clinvar/10134 ^@ F8, EX7-9DEL http://identifiers.org/clinvar/17001 ^@ NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) http://identifiers.org/clinvar/17002 ^@ NM_004004.5(GJB2):c.71G>A (p.Trp24Ter) http://identifiers.org/clinvar/17003 ^@ NM_004004.5(GJB2):c.229T>C (p.Trp77Arg) http://identifiers.org/clinvar/17004 ^@ NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) http://identifiers.org/clinvar/17005 ^@ NM_004004.5(GJB2):c.139G>T (p.Glu47Ter) http://identifiers.org/clinvar/17006 ^@ NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) http://identifiers.org/clinvar/17007 ^@ NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) http://identifiers.org/clinvar/17009 ^@ NM_004004.5(GJB2):c.427C>T (p.Arg143Trp) http://identifiers.org/clinvar/17010 ^@ NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) http://identifiers.org/clinvar/17011 ^@ NM_004004.5(GJB2):c.223C>T (p.Arg75Trp) http://identifiers.org/clinvar/17012 ^@ NM_004004.5(GJB2):c.196G>C (p.Asp66His) http://identifiers.org/clinvar/17013 ^@ NM_004004.5(GJB2):c.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs) http://identifiers.org/clinvar/17014 ^@ NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) http://identifiers.org/clinvar/17015 ^@ NM_004004.5(GJB2):c.176G>C (p.Gly59Ala) http://identifiers.org/clinvar/17016 ^@ NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) http://identifiers.org/clinvar/17017 ^@ NM_004004.5(GJB2):c.428G>A (p.Arg143Gln) http://identifiers.org/clinvar/17018 ^@ NM_004004.5(GJB2):c.605G>T (p.Cys202Phe) http://identifiers.org/clinvar/17019 ^@ NM_004004.5(GJB2):c.132G>C (p.Trp44Cys) http://identifiers.org/clinvar/17020 ^@ NM_004004.5(GJB2):c.148G>A (p.Asp50Asn) http://identifiers.org/clinvar/17021 ^@ NM_004004.5(GJB2):c.34G>C (p.Gly12Arg) http://identifiers.org/clinvar/17022 ^@ NM_004004.5(GJB2):c.50C>T (p.Ser17Phe) http://identifiers.org/clinvar/17023 ^@ NM_004004.5(GJB2):c.109G>A (p.Val37Ile) http://identifiers.org/clinvar/17024 ^@ NM_004004.5(GJB2):c.476A>T (p.Asp159Val) http://identifiers.org/clinvar/17025 ^@ NM_004004.5(GJB2):c.280_284dupCACGT (p.Ala96Thrfs) http://identifiers.org/clinvar/17026 ^@ NM_004004.5(GJB2):c.535G>A (p.Asp179Asn) http://identifiers.org/clinvar/17027 ^@ NM_004004.5(GJB2):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/17028 ^@ NM_004004.5(GJB2):c.148G>T (p.Asp50Tyr) http://identifiers.org/clinvar/17029 ^@ NM_004004.5(GJB2):c.-23+1G>A http://identifiers.org/clinvar/17030 ^@ NM_004004.5(GJB2):c.162C>A (p.Asn54Lys) http://identifiers.org/clinvar/17031 ^@ NM_004004.5(GJB2):c.131G>C (p.Trp44Ser) http://identifiers.org/clinvar/17032 ^@ NM_004004.5(GJB2):c.250G>C (p.Val84Leu) http://identifiers.org/clinvar/17033 ^@ NM_004004.5(GJB2):c.134G>A (p.Gly45Glu) http://identifiers.org/clinvar/17034 ^@ NM_004004.5(GJB2):c.175G>A (p.Gly59Ser) http://identifiers.org/clinvar/17035 ^@ NM_004004.5(GJB2):c.-260C>T http://identifiers.org/clinvar/17036 ^@ NM_004004.5(GJB2):c.250G>A (p.Val84Met) http://identifiers.org/clinvar/17037 ^@ NM_004004.5(GJB2):c.218A>G (p.His73Arg) http://identifiers.org/clinvar/17038 ^@ NM_000066.3(C8B):c.1282C>T (p.Arg428Ter) http://identifiers.org/clinvar/17039 ^@ NM_000562.2(C8A):c.277C>A (p.Gln93Lys) http://identifiers.org/clinvar/17040 ^@ NM_001737.4(C9):c.346C>T (p.Arg116Ter) http://identifiers.org/clinvar/17041 ^@ NM_001737.4(C9):c.162C>A (p.Cys54Ter) http://identifiers.org/clinvar/17042 ^@ NM_001737.4(C9):c.355T>G (p.Cys119Gly) http://identifiers.org/clinvar/17043 ^@ NM_001737.4(C9):c.1280C>G (p.Ser427Ter) http://identifiers.org/clinvar/17044 ^@ CD46, 2-BP DEL, 843AC http://identifiers.org/clinvar/17045 ^@ CD46, 6-BP DEL http://identifiers.org/clinvar/17046 ^@ NM_002389.4(CD46):c.718T>C (p.Ser240Pro) http://identifiers.org/clinvar/17047 ^@ CD46, IVS1AS, G-C, -1 http://identifiers.org/clinvar/17048 ^@ NM_002389.4(CD46):c.175C>T (p.Arg59Ter) http://identifiers.org/clinvar/17049 ^@ NM_002389.4(CD46):c.104G>A (p.Cys35Tyr) http://identifiers.org/clinvar/17050 ^@ NM_001735.2(C5):c.55C>T (p.Gln19Ter) http://identifiers.org/clinvar/17051 ^@ NM_001735.2(C5):c.4426C>T (p.Arg1476Ter) http://identifiers.org/clinvar/17052 ^@ NM_001735.2(C5):c.4872_4873delCCinsG (p.Leu1625Serfs) http://identifiers.org/clinvar/17053 ^@ NM_001735.2(C5):c.1115A>G (p.Lys372Arg) http://identifiers.org/clinvar/17054 ^@ C5, HAPLOTYPE, C5_1 http://identifiers.org/clinvar/17055 ^@ C4A, 2-BP INS, EX29 http://identifiers.org/clinvar/17056 ^@ NM_000064.3(C3):c.304C>G (p.Arg102Gly) http://identifiers.org/clinvar/17057 ^@ NM_000064.3(C3):c.941C>T (p.Pro314Leu) http://identifiers.org/clinvar/17058 ^@ C3, 61-BP DEL, EX18 http://identifiers.org/clinvar/17059 ^@ NG_009557.1:g.(28821_28842)_(29653_29671)del http://identifiers.org/clinvar/17060 ^@ NM_000064.3(C3):c.1775G>A (p.Arg592Gln) http://identifiers.org/clinvar/17061 ^@ NM_000064.3(C3):c.3281C>T (p.Ala1094Val) http://identifiers.org/clinvar/17062 ^@ NM_000064.3(C3):c.3343G>A (p.Asp1115Asn) http://identifiers.org/clinvar/17063 ^@ NM_000064.3(C3):c.2562C>G (p.Tyr854Ter) http://identifiers.org/clinvar/17064 ^@ C3, IVS38AS, A-G http://identifiers.org/clinvar/17065 ^@ CR2, HAPLOTYPE, TGG http://identifiers.org/clinvar/17066 ^@ CR1, 3650A-G http://identifiers.org/clinvar/17067 ^@ C1S, 4-BP DEL, NT1087 http://identifiers.org/clinvar/17068 ^@ NM_001734.3(C1S):c.1600C>T (p.Arg534Trp) http://identifiers.org/clinvar/17069 ^@ C1QC, 1-BP DEL, 43C http://identifiers.org/clinvar/17070 ^@ C1QC, 41C-T http://identifiers.org/clinvar/17071 ^@ C1QC, 6G-A http://identifiers.org/clinvar/17072 ^@ C1QB, 455G-A http://identifiers.org/clinvar/17073 ^@ NM_015991.2(C1QA):c.622C>T (p.Gln208Ter) http://identifiers.org/clinvar/17074 ^@ NM_005215.3(DCC):c.4124C>A (p.Pro1375His) http://identifiers.org/clinvar/17075 ^@ NM_005215.3(DCC):c.503T>C (p.Met168Thr) http://identifiers.org/clinvar/17076 ^@ DCC, IVS6, G-A, +1 http://identifiers.org/clinvar/17077 ^@ DCC, 1-BP INS, 571G http://identifiers.org/clinvar/17078 ^@ NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) http://identifiers.org/clinvar/17079 ^@ NM_000249.3(MLH1):c.131C>T (p.Ser44Phe) http://identifiers.org/clinvar/17080 ^@ NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del) http://identifiers.org/clinvar/17081 ^@ MLH1, 3.5-KB DEL http://identifiers.org/clinvar/17082 ^@ MLH1, IVS5, G-A, -1 http://identifiers.org/clinvar/17083 ^@ MLH1, 370-BP DEL http://identifiers.org/clinvar/17084 ^@ NM_000249.3(MLH1):c.1667+1_1667+8delinsATTT http://identifiers.org/clinvar/17085 ^@ NM_000249.3(MLH1):c.986A>C (p.His329Pro) http://identifiers.org/clinvar/17086 ^@ MLH1, 1-BP DEL, 1784T http://identifiers.org/clinvar/17087 ^@ NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) http://identifiers.org/clinvar/17088 ^@ NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) http://identifiers.org/clinvar/17089 ^@ NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) http://identifiers.org/clinvar/17090 ^@ NM_000249.3(MLH1):c.1733A>G (p.Glu578Gly) http://identifiers.org/clinvar/17091 ^@ MLH1, EX16DEL http://identifiers.org/clinvar/17092 ^@ MLH1, HYPERMETHYLATION http://identifiers.org/clinvar/17093 ^@ MLH1, -42, C-T http://identifiers.org/clinvar/17094 ^@ NM_000249.3(MLH1):c.350C>T (p.Thr117Met) http://identifiers.org/clinvar/17096 ^@ NM_000249.3(MLH1):c.394G>C (p.Asp132His) http://identifiers.org/clinvar/17097 ^@ NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) http://identifiers.org/clinvar/17098 ^@ NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) http://identifiers.org/clinvar/17099 ^@ NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) http://identifiers.org/clinvar/17100 ^@ MLH1, 3-BP DEL, 213AGA http://identifiers.org/clinvar/17101 ^@ MLH1, EX18DEL http://identifiers.org/clinvar/17102 ^@ MLH1, EPIGENETICALLY SILENCED http://identifiers.org/clinvar/17103 ^@ MLH1, EPIGENETICALLY SILENCED INHERITED http://identifiers.org/clinvar/17104 ^@ MLH1, 2-BP DEL, 593AG http://identifiers.org/clinvar/17105 ^@ NM_000249.3(MLH1):c.104_105delTGinsAC (p.Met35Asn) http://identifiers.org/clinvar/17106 ^@ NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) http://identifiers.org/clinvar/17107 ^@ NM_004994.2(MMP9):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/17108 ^@ NM_004530.5(MMP2):c.302G>A (p.Arg101His) http://identifiers.org/clinvar/17109 ^@ NM_004530.5(MMP2):c.732C>A (p.Tyr244Ter) http://identifiers.org/clinvar/17110 ^@ NM_004530.5(MMP2):c.1210G>A (p.Glu404Lys) http://identifiers.org/clinvar/17111 ^@ MMP2, 3-BP DEL, 1488TGG http://identifiers.org/clinvar/17112 ^@ MMP2, 1-BP DEL, 1357C http://identifiers.org/clinvar/17113 ^@ MMP8, HAPLOTYPE, TGG http://identifiers.org/clinvar/17114 ^@ NM_002421.3(MMP1):c.-1673G= http://identifiers.org/clinvar/17115 ^@ COL18A1, IVS1, A-T, -2 http://identifiers.org/clinvar/17116 ^@ COL18A1, 2-BP DEL, 3514CT http://identifiers.org/clinvar/17117 ^@ NM_030582.3(COL18A1):c.3363dupC (p.Gly1122Argfs) http://identifiers.org/clinvar/17118 ^@ NM_030582.3(COL18A1):c.4309G>A (p.Asp1437Asn) http://identifiers.org/clinvar/17119 ^@ COL18A1, IVS36DS, A-C, +3 http://identifiers.org/clinvar/17120 ^@ NM_080680.2(COL11A2):c.4392+1G>A http://identifiers.org/clinvar/17121 ^@ NM_080680.2(COL11A2):c.1981G>A (p.Gly661Arg) http://identifiers.org/clinvar/17122 ^@ NM_080680.2(COL11A2):c.2822_2848del27 (p.Glu941_Pro950delinsAla) http://identifiers.org/clinvar/17123 ^@ NM_080680.2(COL11A2):c.4322G>A (p.Gly1441Glu) http://identifiers.org/clinvar/17124 ^@ NM_080680.2(COL11A2):c.3100C>T (p.Arg1034Cys) http://identifiers.org/clinvar/17125 ^@ NM_080680.2(COL11A2):c.2423G>A (p.Gly808Glu) http://identifiers.org/clinvar/17126 ^@ NM_080680.2(COL11A2):c.2492C>A (p.Ser831Ter) http://identifiers.org/clinvar/17127 ^@ NM_080680.2(COL11A2):c.4135C>T (p.Arg1379Ter) http://identifiers.org/clinvar/17128 ^@ NM_080680.2(COL11A2):c.3991C>T (p.Arg1331Ter) http://identifiers.org/clinvar/17129 ^@ NM_080680.2(COL11A2):c.1861C>A (p.Pro621Thr) http://identifiers.org/clinvar/17130 ^@ COL11A2, 1-BP DEL, 3962G http://identifiers.org/clinvar/17131 ^@ NM_080629.2(COL11A1):c.1910G>T (p.Gly637Val) http://identifiers.org/clinvar/17133 ^@ NM_080629.2(COL11A1):c.2963G>T (p.Gly988Val) http://identifiers.org/clinvar/17134 ^@ COL11A1, 4-BP DEL, EX50/IVS50 http://identifiers.org/clinvar/17135 ^@ COL11A1, 54-BP EX DEL, AS, AG-TG http://identifiers.org/clinvar/17136 ^@ COL11A1, 1-BP INS, 3816T http://identifiers.org/clinvar/17137 ^@ NM_001854.3(COL11A1):c.4603T>C (p.Ser1535Pro) http://identifiers.org/clinvar/17138 ^@ COL9A3, IVS2AS, A-T, -2 http://identifiers.org/clinvar/17139 ^@ NM_001853.3(COL9A3):c.307C>T (p.Arg103Trp) http://identifiers.org/clinvar/17140 ^@ COL9A3, IVS3DS, G-A, +5 http://identifiers.org/clinvar/17141 ^@ NM_001853.3(COL9A3):c.148-1G>A http://identifiers.org/clinvar/17142 ^@ COL9A2, IVS3DS, T-C, +2 http://identifiers.org/clinvar/17143 ^@ COL9A2, IVS3DS, 186G-A http://identifiers.org/clinvar/17144 ^@ COL9A2, IVS3DS, G-C, +5 http://identifiers.org/clinvar/17145 ^@ NM_001852.3(COL9A2):c.976_977delCAinsTG (p.Gln326Trp) http://identifiers.org/clinvar/17146 ^@ COL9A2, IVS3DS, G-C, -1 http://identifiers.org/clinvar/17147 ^@ NM_005202.3(COL8A2):c.1363C>A (p.Gln455Lys) http://identifiers.org/clinvar/17148 ^@ NM_005202.3(COL8A2):c.1349T>G (p.Leu450Trp) http://identifiers.org/clinvar/17149 ^@ NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) http://identifiers.org/clinvar/17150 ^@ COL6A3, IVS29, A-G, +5 http://identifiers.org/clinvar/17151 ^@ NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter) http://identifiers.org/clinvar/17152 ^@ COL6A3, IVS16DS, G-A, +1 http://identifiers.org/clinvar/17153 ^@ COL6A3, IVS15DS, GT-TC, +1 http://identifiers.org/clinvar/17154 ^@ NM_004369.3(COL6A3):c.5177T>G (p.Leu1726Arg) http://identifiers.org/clinvar/17155 ^@ NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) http://identifiers.org/clinvar/17156 ^@ COL6A2, 1-BP INS, 1151C http://identifiers.org/clinvar/17157 ^@ COL6A2, IVS17AS, A-G, -2 http://identifiers.org/clinvar/17158 ^@ COL6A2, IVS23AS, G-A, -1 http://identifiers.org/clinvar/17159 ^@ NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) http://identifiers.org/clinvar/17160 ^@ COL6A2, 26-BP DEL, NT731 http://identifiers.org/clinvar/17161 ^@ COL6A2, IVS12AS, A-G, -10 http://identifiers.org/clinvar/17162 ^@ COL6A2, 1.3-KB DEL http://identifiers.org/clinvar/17163 ^@ COL6A2, IVS10AS, A-G, -2 http://identifiers.org/clinvar/17164 ^@ NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) http://identifiers.org/clinvar/17165 ^@ NM_001849.3(COL6A2):c.2455C>T (p.Gln819Ter) http://identifiers.org/clinvar/17166 ^@ NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) http://identifiers.org/clinvar/17167 ^@ NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) http://identifiers.org/clinvar/17168 ^@ NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) http://identifiers.org/clinvar/17169 ^@ NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) http://identifiers.org/clinvar/17170 ^@ COL6A1, IVS11AS, G-A, -1 http://identifiers.org/clinvar/17171 ^@ NM_001848.2(COL6A1):c.1003_1056del54 http://identifiers.org/clinvar/17172 ^@ NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) http://identifiers.org/clinvar/17173 ^@ NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) http://identifiers.org/clinvar/17174 ^@ NM_001848.2(COL6A1):c.1003_1056del54 http://identifiers.org/clinvar/17175 ^@ NG_008674.1:g.11764_12909del1146insTCCCTCCCCATTTCC http://identifiers.org/clinvar/17176 ^@ COL6A1, IVS3DS, G-A, +1 http://identifiers.org/clinvar/17177 ^@ NM_001848.2(COL6A1):c.857delC (p.Pro286Leufs) http://identifiers.org/clinvar/17178 ^@ NM_001848.2(COL6A1):c.1465delG (p.Ala489Profs) http://identifiers.org/clinvar/17179 ^@ NM_001848.2(COL6A1):c.1977C>G (p.Tyr659Ter) http://identifiers.org/clinvar/17180 ^@ NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) http://identifiers.org/clinvar/17181 ^@ NM_001848.2(COL6A1):c.868G>C (p.Gly290Arg) http://identifiers.org/clinvar/17182 ^@ NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) http://identifiers.org/clinvar/17183 ^@ NM_000093.4(COL5A1):c.3906+3G>T http://identifiers.org/clinvar/17184 ^@ NM_000093.4(COL5A1):c.5370+3_5370+6delGAGT http://identifiers.org/clinvar/17185 ^@ NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) http://identifiers.org/clinvar/17186 ^@ NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del) http://identifiers.org/clinvar/17187 ^@ NM_000093.4(COL5A1):c.5137-11T>A http://identifiers.org/clinvar/17188 ^@ NM_000093.4(COL5A1):c.2701-25T>G http://identifiers.org/clinvar/17189 ^@ NM_000093.4(COL5A1):c.4466G>A (p.Gly1489Glu) http://identifiers.org/clinvar/17190 ^@ NM_000093.4(COL5A1):c.3752delC (p.Pro1251Argfs) http://identifiers.org/clinvar/17191 ^@ NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) http://identifiers.org/clinvar/17192 ^@ NM_000093.4(COL5A1):c.655-2A>G http://identifiers.org/clinvar/17193 ^@ NM_000093.4(COL5A1):c.4339-1delG http://identifiers.org/clinvar/17194 ^@ NM_001851.4(COL9A1):c.876+2dupT http://identifiers.org/clinvar/17195 ^@ NM_001851.4(COL9A1):c.883C>T (p.Arg295Ter) http://identifiers.org/clinvar/17196 ^@ NM_000393.4(COL5A2):c.1924-2_1928delAGGGAGC http://identifiers.org/clinvar/17197 ^@ NM_000393.4(COL5A2):c.2031+1G>T http://identifiers.org/clinvar/17198 ^@ NM_000393.4(COL5A2):c.3445G>C (p.Gly1149Arg) http://identifiers.org/clinvar/17199 ^@ NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) http://identifiers.org/clinvar/17200 ^@ NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) http://identifiers.org/clinvar/17201 ^@ NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) http://identifiers.org/clinvar/17202 ^@ NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) http://identifiers.org/clinvar/17203 ^@ NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) http://identifiers.org/clinvar/17204 ^@ NM_000090.3(COL3A1):c.3093+1G>A http://identifiers.org/clinvar/17205 ^@ NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) http://identifiers.org/clinvar/17206 ^@ NM_000090.3(COL3A1):c.2553+5G>T http://identifiers.org/clinvar/17207 ^@ NR_037401.1(MIR3606):n.-6222_685del http://identifiers.org/clinvar/17208 ^@ NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp) http://identifiers.org/clinvar/17209 ^@ NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val) http://identifiers.org/clinvar/17210 ^@ COL3A1, GLY373ARG http://identifiers.org/clinvar/17211 ^@ NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) http://identifiers.org/clinvar/17212 ^@ NM_000090.3(COL3A1):c.1761+5G>T http://identifiers.org/clinvar/17213 ^@ NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del) http://identifiers.org/clinvar/17214 ^@ NM_000090.3(COL3A1):c.2490_2516del27 (p.Glu832_Gly840del) http://identifiers.org/clinvar/17215 ^@ NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu) http://identifiers.org/clinvar/17216 ^@ NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) http://identifiers.org/clinvar/17217 ^@ NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) http://identifiers.org/clinvar/17218 ^@ NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu) http://identifiers.org/clinvar/17219 ^@ NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) http://identifiers.org/clinvar/17220 ^@ NM_000090.3(COL3A1):c.582+6T>C http://identifiers.org/clinvar/17221 ^@ NM_000090.3(COL3A1):c.2410G>A (p.Gly804Ser) http://identifiers.org/clinvar/17222 ^@ NM_000090.3(COL3A1):c.1869+5G>A http://identifiers.org/clinvar/17223 ^@ NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) http://identifiers.org/clinvar/17224 ^@ NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) http://identifiers.org/clinvar/17225 ^@ NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) http://identifiers.org/clinvar/17226 ^@ NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) http://identifiers.org/clinvar/17227 ^@ NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) http://identifiers.org/clinvar/17228 ^@ NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) http://identifiers.org/clinvar/17229 ^@ COL3A1, GLY297ARG http://identifiers.org/clinvar/17230 ^@ COL3A1, IVS8DS, G-A, +5 http://identifiers.org/clinvar/17231 ^@ NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val) http://identifiers.org/clinvar/17232 ^@ COL1A2, EX6DEL http://identifiers.org/clinvar/17233 ^@ NM_000089.3(COL1A2):c.279+2T>C http://identifiers.org/clinvar/17234 ^@ COL1A2, IVS6DS, G-A, -1 http://identifiers.org/clinvar/17235 ^@ NM_000089.3(COL1A2):c.3034G>C (p.Gly1012Arg) http://identifiers.org/clinvar/17236 ^@ NM_000089.3(COL1A2):c.4001_4004delATAA (p.Asn1334Serfs) http://identifiers.org/clinvar/17237 ^@ COL1A2, EX11DEL http://identifiers.org/clinvar/17238 ^@ NC_000007.14:g.94418886_94423301del4416 http://identifiers.org/clinvar/17239 ^@ NM_000089.3(COL1A2):c.2720G>A (p.Gly907Asp) http://identifiers.org/clinvar/17240 ^@ COL1A2, EX33DEL http://identifiers.org/clinvar/17241 ^@ NM_000089.3(COL1A2):c.1640G>A (p.Gly547Asp) http://identifiers.org/clinvar/17242 ^@ NM_000089.3(COL1A2):c.2593G>A (p.Gly865Ser) http://identifiers.org/clinvar/17243 ^@ NM_000089.3(COL1A2):c.1936G>T (p.Gly646Cys) http://identifiers.org/clinvar/17244 ^@ COL1A2, EX26DEL http://identifiers.org/clinvar/17245 ^@ COL1A2, GLY976ASP http://identifiers.org/clinvar/17246 ^@ NM_000089.3(COL1A2):c.2414G>A (p.Gly805Asp) http://identifiers.org/clinvar/17247 ^@ NM_000089.3(COL1A2):c.775G>T (p.Gly259Cys) http://identifiers.org/clinvar/17248 ^@ COL1A2, EX28DEL http://identifiers.org/clinvar/17249 ^@ NM_000089.3(COL1A2):c.1414G>T (p.Gly472Cys) http://identifiers.org/clinvar/17250 ^@ NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) http://identifiers.org/clinvar/17251 ^@ COL1A2, IVS6DS, G-A, +1 http://identifiers.org/clinvar/17252 ^@ COL1A2, IVS33DS, G-A, +5 http://identifiers.org/clinvar/17253 ^@ NM_000089.3(COL1A2):c.1757G>T (p.Gly586Val) http://identifiers.org/clinvar/17254 ^@ NM_000089.3(COL1A2):c.2080G>C (p.Gly694Arg) http://identifiers.org/clinvar/17255 ^@ COL1A2, IVS9DS, 11-BP DEL, EX9DEL http://identifiers.org/clinvar/17256 ^@ NM_000089.3(COL1A2):c.226-1G>C http://identifiers.org/clinvar/17257 ^@ NM_000089.3(COL1A2):c.1739G>A (p.Gly580Asp) http://identifiers.org/clinvar/17258 ^@ NM_000089.3(COL1A2):c.1981G>A (p.Gly661Ser) http://identifiers.org/clinvar/17259 ^@ COL1A2, VAL255DEL http://identifiers.org/clinvar/17261 ^@ NM_000089.3(COL1A2):c.2575G>A (p.Gly859Ser) http://identifiers.org/clinvar/17262 ^@ NM_000089.3(COL1A2):c.1504G>A (p.Gly502Ser) http://identifiers.org/clinvar/17263 ^@ NM_000089.3(COL1A2):c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del) http://identifiers.org/clinvar/17264 ^@ COL1A2, IVS21DS, G-A, +5 http://identifiers.org/clinvar/17265 ^@ NM_000089.3(COL1A2):c.3017G>C (p.Gly1006Ala) http://identifiers.org/clinvar/17267 ^@ NM_000089.3(COL1A2):c.2251G>A (p.Gly751Ser) http://identifiers.org/clinvar/17268 ^@ COL1A2, IVS26DS, A-G, +3 http://identifiers.org/clinvar/17269 ^@ COL1A2, IVS9DS, G-A, +5 http://identifiers.org/clinvar/17270 ^@ NM_000089.3(COL1A2):c.226-2A>G http://identifiers.org/clinvar/17271 ^@ nsv513787 http://identifiers.org/clinvar/17272 ^@ NM_000089.3(COL1A2):c.1099G>T (p.Gly367Trp) http://identifiers.org/clinvar/17273 ^@ COL1A2, IVS11DS, G-A, +5 http://identifiers.org/clinvar/17274 ^@ COL1A2, IVS24DS, G-C, +1 http://identifiers.org/clinvar/17275 ^@ NM_000089.3(COL1A2):c.1404+1G>A http://identifiers.org/clinvar/17276 ^@ NM_000089.3(COL1A2):c.70+717A>G http://identifiers.org/clinvar/17277 ^@ NM_000089.3(COL1A2):c.3105+2T>C http://identifiers.org/clinvar/17278 ^@ NM_000089.3(COL1A2):c.1136G>C (p.Gly379Ala) http://identifiers.org/clinvar/17279 ^@ NM_000089.3(COL1A2):c.3601G>T (p.Glu1201Ter) http://identifiers.org/clinvar/17280 ^@ NM_000089.3(COL1A2):c.293dupC (p.Arg99Terfs) http://identifiers.org/clinvar/17281 ^@ NM_000089.3(COL1A2):c.1262G>A (p.Gly421Asp) http://identifiers.org/clinvar/17282 ^@ NM_000089.3(COL1A2):c.3269G>A (p.Gly1090Asp) http://identifiers.org/clinvar/17283 ^@ NM_000089.3(COL1A2):c.3295G>A (p.Gly1099Arg) http://identifiers.org/clinvar/17284 ^@ NM_000088.3(COL1A1):c.824G>A (p.Gly275Asp) http://identifiers.org/clinvar/17285 ^@ NM_000088.3(COL1A1):c.814G>T (p.Gly272Cys) http://identifiers.org/clinvar/17286 ^@ NM_000088.3(COL1A1):c.1057G>T (p.Gly353Cys) http://identifiers.org/clinvar/17287 ^@ NM_000088.3(COL1A1):c.1705G>C (p.Gly569Arg) http://identifiers.org/clinvar/17288 ^@ NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys) http://identifiers.org/clinvar/17289 ^@ NM_000088.3(COL1A1):c.2210G>A (p.Gly737Asp) http://identifiers.org/clinvar/17290 ^@ NM_000088.3(COL1A1):c.2552G>A (p.Gly851Asp) http://identifiers.org/clinvar/17291 ^@ NM_000088.3(COL1A1):c.2533G>A (p.Gly845Arg) http://identifiers.org/clinvar/17292 ^@ NM_000088.3(COL1A1):c.2605G>T (p.Gly869Cys) http://identifiers.org/clinvar/17293 ^@ NM_000088.3(COL1A1):c.2686G>T (p.Gly896Cys) http://identifiers.org/clinvar/17294 ^@ NM_000088.3(COL1A1):c.2776G>T (p.Gly926Cys) http://identifiers.org/clinvar/17295 ^@ NM_000088.3(COL1A1):c.3028G>A (p.Gly1010Ser) http://identifiers.org/clinvar/17296 ^@ NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser) http://identifiers.org/clinvar/17297 ^@ NM_000088.3(COL1A1):c.3073G>A (p.Gly1025Arg) http://identifiers.org/clinvar/17298 ^@ NM_000088.3(COL1A1):c.3182G>A (p.Gly1061Asp) http://identifiers.org/clinvar/17299 ^@ NM_000088.3(COL1A1):c.3244G>T (p.Gly1082Cys) http://identifiers.org/clinvar/17300 ^@ NM_000088.3(COL1A1):c.3271G>A (p.Gly1091Ser) http://identifiers.org/clinvar/17301 ^@ NM_000088.3(COL1A1):c.3496G>T (p.Gly1166Cys) http://identifiers.org/clinvar/17302 ^@ NM_000088.3(COL1A1):c.3559G>A (p.Gly1187Ser) http://identifiers.org/clinvar/17303 ^@ COL1A1, EX22DEL http://identifiers.org/clinvar/17306 ^@ COL1A1, 9-BP DEL http://identifiers.org/clinvar/17307 ^@ NM_000088.3(COL1A1):c.4358_4362delAATTC (p.Glu1453Glyfs) http://identifiers.org/clinvar/17308 ^@ COL1A1, 1-BP INS, 4088T http://identifiers.org/clinvar/17309 ^@ NM_000088.3(COL1A1):c.1066G>T (p.Gly356Cys) http://identifiers.org/clinvar/17310 ^@ NM_000088.3(COL1A1):c.2156G>A (p.Gly719Asp) http://identifiers.org/clinvar/17311 ^@ NG_007400.1:g.8207G>A http://identifiers.org/clinvar/17312 ^@ NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) http://identifiers.org/clinvar/17313 ^@ NM_000088.3(COL1A1):c.3541G>A (p.Gly1181Ser) http://identifiers.org/clinvar/17314 ^@ NM_000088.3(COL1A1):c.2444G>T (p.Gly815Val) http://identifiers.org/clinvar/17315 ^@ NM_000088.3(COL1A1):c.1777G>T (p.Gly593Cys) http://identifiers.org/clinvar/17316 ^@ NM_000088.3(COL1A1):c.787G>A (p.Gly263Arg) http://identifiers.org/clinvar/17317 ^@ NM_000088.3(COL1A1):c.3551G>T (p.Gly1184Val) http://identifiers.org/clinvar/17318 ^@ NM_000088.3(COL1A1):c.3452G>T (p.Gly1151Val) http://identifiers.org/clinvar/17319 ^@ NM_000088.3(COL1A1):c.1301G>T (p.Gly434Val) http://identifiers.org/clinvar/17320 ^@ NM_000088.3(COL1A1):c.661G>T (p.Gly221Cys) http://identifiers.org/clinvar/17321 ^@ COL1A1, IVS14DS, G-A, +5 http://identifiers.org/clinvar/17322 ^@ NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) http://identifiers.org/clinvar/17323 ^@ NM_000088.3(COL1A1):c.2939G>T (p.Gly980Val) http://identifiers.org/clinvar/17324 ^@ NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser) http://identifiers.org/clinvar/17325 ^@ COL1A1, EX15-16DUP http://identifiers.org/clinvar/17326 ^@ NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) http://identifiers.org/clinvar/17327 ^@ NM_000088.3(COL1A1):c.2228G>T (p.Gly743Val) http://identifiers.org/clinvar/17328 ^@ COL1A1, IVS26DS, G-A, +1 http://identifiers.org/clinvar/17329 ^@ NM_000088.3(COL1A1):c.1598G>A (p.Gly533Asp) http://identifiers.org/clinvar/17330 ^@ NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) http://identifiers.org/clinvar/17331 ^@ NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser) http://identifiers.org/clinvar/17332 ^@ NM_000088.3(COL1A1):c.4391T>C (p.Leu1464Pro) http://identifiers.org/clinvar/17333 ^@ NM_000088.3(COL1A1):c.104-441G= http://identifiers.org/clinvar/17334 ^@ NM_000088.3(COL1A1):c.572G>C (p.Gly191Ala) http://identifiers.org/clinvar/17335 ^@ NM_000088.3(COL1A1):c.3936G>T (p.Trp1312Cys) http://identifiers.org/clinvar/17336 ^@ COL1A1, 562-BP DEL http://identifiers.org/clinvar/17337 ^@ NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter) http://identifiers.org/clinvar/17338 ^@ NM_000088.3(COL1A1):c.2291G>T (p.Gly764Val) http://identifiers.org/clinvar/17339 ^@ COL1A1, IVS5AS, G-A, -1 http://identifiers.org/clinvar/17340 ^@ NM_000088.3(COL1A1):c.-2116T= http://identifiers.org/clinvar/17341 ^@ COL1A1, IVS8DS, G-A, +1 http://identifiers.org/clinvar/17342 ^@ NM_000088.3(COL1A1):c.-1782delT http://identifiers.org/clinvar/17343 ^@ NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) http://identifiers.org/clinvar/17344 ^@ COL1A1, 9-BP DUP http://identifiers.org/clinvar/17345 ^@ COL1A1, 3-BP DEL, 1964GGC http://identifiers.org/clinvar/17346 ^@ COL1A1, IVS19DS, G-C, +1 http://identifiers.org/clinvar/17347 ^@ NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) http://identifiers.org/clinvar/17348 ^@ NM_000088.3(COL1A1):c.572G>A (p.Gly191Asp) http://identifiers.org/clinvar/17349 ^@ NM_000088.3(COL1A1):c.761G>A (p.Gly254Glu) http://identifiers.org/clinvar/17350 ^@ COL1A1, IVS5AS, A-T, -2 http://identifiers.org/clinvar/17351 ^@ NM_001844.4(COL2A1):c.3490_3597del108 http://identifiers.org/clinvar/17352 ^@ NM_001844.4(COL2A1):c.3220G>A (p.Gly1074Ser) http://identifiers.org/clinvar/17353 ^@ NM_001844.4(COL2A1):c.2155C>T (p.Arg719Cys) http://identifiers.org/clinvar/17354 ^@ COL2A1, 45-BP DUP, EX48 http://identifiers.org/clinvar/17355 ^@ NM_001844.4(COL2A1):c.2794C>T (p.Arg932Ter) http://identifiers.org/clinvar/17357 ^@ NM_001844.4(COL2A1):c.2320G>A (p.Gly774Ser) http://identifiers.org/clinvar/17358 ^@ COL2A1, 1-BP DEL, EX40 http://identifiers.org/clinvar/17359 ^@ NM_001844.4(COL2A1):c.3158G>A (p.Gly1053Glu) http://identifiers.org/clinvar/17360 ^@ NM_001844.4(COL2A1):c.625C>T (p.Arg209Ter) http://identifiers.org/clinvar/17361 ^@ NM_001844.4(COL2A1):c.3589G>A (p.Gly1197Ser) http://identifiers.org/clinvar/17362 ^@ COL2A1, 28-BP DEL http://identifiers.org/clinvar/17363 ^@ NM_001844.4(COL2A1):c.1060G>A (p.Gly354Arg) http://identifiers.org/clinvar/17364 ^@ NM_001844.4(COL2A1):c.800G>A (p.Gly267Asp) http://identifiers.org/clinvar/17365 ^@ NM_001844.4(COL2A1):c.3138delT (p.Gly1047Alafs) http://identifiers.org/clinvar/17366 ^@ NM_001844.4(COL2A1):c.2965C>T (p.Arg989Cys) http://identifiers.org/clinvar/17367 ^@ NM_001844.4(COL2A1):c.2725G>T (p.Gly909Cys) http://identifiers.org/clinvar/17368 ^@ NM_001844.4(COL2A1):c.823C>T (p.Arg275Cys) http://identifiers.org/clinvar/17369 ^@ COL2A1, IVS20, A-G, -2 http://identifiers.org/clinvar/17370 ^@ NM_001844.4(COL2A1):c.908G>A (p.Gly303Asp) http://identifiers.org/clinvar/17371 ^@ NM_001844.4(COL2A1):c.2905G>A (p.Gly969Ser) http://identifiers.org/clinvar/17372 ^@ NM_001844.4(COL2A1):c.2671G>C (p.Gly891Arg) http://identifiers.org/clinvar/17373 ^@ COL2A1, 1-BP DEL, EX50 http://identifiers.org/clinvar/17374 ^@ COL2A1, IVS17, A-G, -2 http://identifiers.org/clinvar/17375 ^@ NM_001844.4(COL2A1):c.1266+1delG http://identifiers.org/clinvar/17376 ^@ COL2A1, IVS24, G-A, +5 http://identifiers.org/clinvar/17377 ^@ NM_001844.4(COL2A1):c.1510G>T (p.Gly504Cys) http://identifiers.org/clinvar/17378 ^@ NM_001844.4(COL2A1):c.1475G>T (p.Gly492Val) http://identifiers.org/clinvar/17379 ^@ NM_033150.2(COL2A1):c.2503C>T (p.Arg835Cys) http://identifiers.org/clinvar/17380 ^@ COL2A1, 5-BP DUP http://identifiers.org/clinvar/17381 ^@ NM_001844.4(COL2A1):c.3517G>C (p.Gly1173Arg) http://identifiers.org/clinvar/17382 ^@ COL2A1, IVS25DS, G-A, +1 http://identifiers.org/clinvar/17383 ^@ NM_001844.4(COL2A1):c.1693C>T (p.Arg565Cys) http://identifiers.org/clinvar/17384 ^@ NM_001844.4(COL2A1):c.1999C>T (p.Leu667Phe) http://identifiers.org/clinvar/17385 ^@ NM_001844.4(COL2A1):c.4316C>T (p.Thr1439Met) http://identifiers.org/clinvar/17386 ^@ COL2A1, 2-BP DEL, 4274GT http://identifiers.org/clinvar/17387 ^@ NM_001844.4(COL2A1):c.3914G>A (p.Gly1305Asp) http://identifiers.org/clinvar/17388 ^@ NM_001844.4(COL2A1):c.1547G>A (p.Gly516Asp) http://identifiers.org/clinvar/17389 ^@ NM_001844.4(COL2A1):c.4172A>G (p.Tyr1391Cys) http://identifiers.org/clinvar/17390 ^@ COL2A1, 4-BP DEL, 4413AGGG http://identifiers.org/clinvar/17391 ^@ COL2A1, 1-BP DEL, 4337G http://identifiers.org/clinvar/17392 ^@ NM_001844.4(COL2A1):c.4314C>A (p.Cys1438Ter) http://identifiers.org/clinvar/17393 ^@ NM_001844.4(COL2A1):c.3508G>A (p.Gly1170Ser) http://identifiers.org/clinvar/17394 ^@ NM_001844.4(COL2A1):c.2149G>A (p.Gly717Ser) http://identifiers.org/clinvar/17395 ^@ NM_001844.4(COL2A1):c.1957C>T (p.Arg653Ter) http://identifiers.org/clinvar/17396 ^@ NM_001844.4(COL2A1):c.952G>A (p.Gly318Arg) http://identifiers.org/clinvar/17397 ^@ NM_001844.4(COL2A1):c.2974A>G (p.Arg992Gly) http://identifiers.org/clinvar/17398 ^@ COL2A1, IVS10AS, A-G, -2 http://identifiers.org/clinvar/17399 ^@ COL2A1, IVS51DS, T-C, +2 http://identifiers.org/clinvar/17400 ^@ NM_001844.4(COL2A1):c.141G>A (p.Trp47Ter) http://identifiers.org/clinvar/17401 ^@ NM_001844.4(COL2A1):c.192C>A (p.Cys64Ter) http://identifiers.org/clinvar/17402 ^@ NM_001844.4(COL2A1):c.170G>A (p.Cys57Tyr) http://identifiers.org/clinvar/17403 ^@ NM_001844.4(COL2A1):c.1637G>T (p.Gly546Val) http://identifiers.org/clinvar/17404 ^@ NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) http://identifiers.org/clinvar/17405 ^@ NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) http://identifiers.org/clinvar/17406 ^@ NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) http://identifiers.org/clinvar/17407 ^@ NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) http://identifiers.org/clinvar/17408 ^@ NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) http://identifiers.org/clinvar/17409 ^@ NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) http://identifiers.org/clinvar/17410 ^@ COL4A4, 1-BP INS, 3222A http://identifiers.org/clinvar/17411 ^@ COL4A4, GLY960ARG http://identifiers.org/clinvar/17412 ^@ NM_001845.5(COL4A1):c.3706G>A (p.Gly1236Arg) http://identifiers.org/clinvar/17413 ^@ NM_001845.5(COL4A1):c.2245G>A (p.Gly749Ser) http://identifiers.org/clinvar/17414 ^@ NM_001845.5(COL4A1):c.1685G>A (p.Gly562Glu) http://identifiers.org/clinvar/17415 ^@ NM_001845.5(COL4A1):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/17416 ^@ NM_001845.5(COL4A1):c.3389G>A (p.Gly1130Asp) http://identifiers.org/clinvar/17417 ^@ NM_001845.5(COL4A1):c.4267G>C (p.Gly1423Arg) http://identifiers.org/clinvar/17418 ^@ NM_001845.5(COL4A1):c.1493G>T (p.Gly498Val) http://identifiers.org/clinvar/17419 ^@ NM_001845.5(COL4A1):c.1555G>A (p.Gly519Arg) http://identifiers.org/clinvar/17420 ^@ NM_001845.5(COL4A1):c.1583G>A (p.Gly528Glu) http://identifiers.org/clinvar/17421 ^@ NM_001845.5(COL4A1):c.2159G>A (p.Gly720Asp) http://identifiers.org/clinvar/17422 ^@ NM_001845.5(COL4A1):c.4738G>C (p.Gly1580Arg) http://identifiers.org/clinvar/17423 ^@ NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys) http://identifiers.org/clinvar/17424 ^@ NM_000094.3(COL7A1):c.6118G>A (p.Gly2040Ser) http://identifiers.org/clinvar/17425 ^@ COL7A1, 1-BP INS, 2470G http://identifiers.org/clinvar/17426 ^@ COL7A1, 1-BP DEL, 3858G http://identifiers.org/clinvar/17427 ^@ NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter) http://identifiers.org/clinvar/17428 ^@ COL7A1, 1-BP DEL, 5818C http://identifiers.org/clinvar/17429 ^@ NM_000094.3(COL7A1):c.7867G>T (p.Gly2623Cys) http://identifiers.org/clinvar/17430 ^@ NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) http://identifiers.org/clinvar/17431 ^@ COL7A1, IVS3DS, A-G, -2 http://identifiers.org/clinvar/17432 ^@ COL7A1, 5820G-A http://identifiers.org/clinvar/17433 ^@ COL7A1, IVS95DS, G-A, -1 http://identifiers.org/clinvar/17434 ^@ NM_000094.3(COL7A1):c.4039G>C (p.Gly1347Arg) http://identifiers.org/clinvar/17435 ^@ COL7A1, IVS35DS, G-T, +1 http://identifiers.org/clinvar/17436 ^@ NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu) http://identifiers.org/clinvar/17437 ^@ NM_000094.3(COL7A1):c.4556G>A (p.Gly1519Asp) http://identifiers.org/clinvar/17438 ^@ NM_000094.3(COL7A1):c.6127G>A (p.Gly2043Arg) http://identifiers.org/clinvar/17439 ^@ NM_000094.3(COL7A1):c.6724G>A (p.Gly2242Arg) http://identifiers.org/clinvar/17440 ^@ COL7A1, IVS64DS, G-A, +1 http://identifiers.org/clinvar/17441 ^@ COL7A1, 1-BP DEL, 7786G http://identifiers.org/clinvar/17442 ^@ COL7A1, 16-BP DEL, NT6863 http://identifiers.org/clinvar/17443 ^@ NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg) http://identifiers.org/clinvar/17445 ^@ COL7A1, 14-BP DEL, NT33563 http://identifiers.org/clinvar/17446 ^@ NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) http://identifiers.org/clinvar/17447 ^@ NM_000094.3(COL7A1):c.6859G>A (p.Gly2287Arg) http://identifiers.org/clinvar/17448 ^@ NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) http://identifiers.org/clinvar/17449 ^@ NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu) http://identifiers.org/clinvar/17450 ^@ NM_000094.3(COL7A1):c.6100G>A (p.Gly2034Arg) http://identifiers.org/clinvar/17451 ^@ NM_000094.3(COL7A1):c.5096C>T (p.Pro1699Leu) http://identifiers.org/clinvar/17452 ^@ COL7A1, IVS2AS, G-C, -1 http://identifiers.org/clinvar/17453 ^@ NM_000094.3(COL7A1):c.6110G>A (p.Gly2037Glu) http://identifiers.org/clinvar/17454 ^@ NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) http://identifiers.org/clinvar/17455 ^@ NM_000094.3(COL7A1):c.6218G>T (p.Gly2073Val) http://identifiers.org/clinvar/17456 ^@ NM_000094.3(COL7A1):c.6187C>T (p.Arg2063Trp) http://identifiers.org/clinvar/17457 ^@ NM_000094.3(COL7A1):c.6227G>A (p.Gly2076Asp) http://identifiers.org/clinvar/17458 ^@ NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg) http://identifiers.org/clinvar/17459 ^@ NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) http://identifiers.org/clinvar/17460 ^@ NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) http://identifiers.org/clinvar/17461 ^@ COL7A1, IVS35AS, G-C, -1 http://identifiers.org/clinvar/17462 ^@ NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter) http://identifiers.org/clinvar/17463 ^@ NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys) http://identifiers.org/clinvar/17464 ^@ COL10A1, 13-BP DEL, NT1856 http://identifiers.org/clinvar/17465 ^@ NM_000493.3(COL10A1):c.1792T>G (p.Tyr598Asp) http://identifiers.org/clinvar/17466 ^@ NM_000493.3(COL10A1):c.1841T>C (p.Leu614Pro) http://identifiers.org/clinvar/17467 ^@ NM_000493.3(COL10A1):c.1771T>C (p.Cys591Arg) http://identifiers.org/clinvar/17468 ^@ COL10A1, 1-BP DEL, 1856C http://identifiers.org/clinvar/17469 ^@ COL10A1, 2-BP DEL, FS665TER http://identifiers.org/clinvar/17470 ^@ COL10A1, 10-BP DEL, NT1867 http://identifiers.org/clinvar/17471 ^@ COL10A1, 2-BP DEL, NT1856 http://identifiers.org/clinvar/17472 ^@ NM_000493.3(COL10A1):c.1884C>G (p.Tyr628Ter) http://identifiers.org/clinvar/17473 ^@ NM_000493.3(COL10A1):c.1953G>A (p.Trp651Ter) http://identifiers.org/clinvar/17474 ^@ NM_000493.3(COL10A1):c.1951T>C (p.Trp651Arg) http://identifiers.org/clinvar/17475 ^@ NM_000493.3(COL10A1):c.52G>A (p.Gly18Arg) http://identifiers.org/clinvar/17476 ^@ NM_000493.3(COL10A1):c.53G>A (p.Gly18Glu) http://identifiers.org/clinvar/17477 ^@ NM_000493.3(COL10A1):c.2011T>C (p.Ser671Pro) http://identifiers.org/clinvar/17478 ^@ NM_000493.3(COL10A1):c.1896C>A (p.Tyr632Ter) http://identifiers.org/clinvar/17479 ^@ NM_000493.3(COL10A1):c.1784G>A (p.Gly595Glu) http://identifiers.org/clinvar/17480 ^@ NM_000493.3(COL10A1):c.1790A>G (p.Tyr597Cys) http://identifiers.org/clinvar/17481 ^@ NM_000493.3(COL10A1):c.1798T>C (p.Ser600Pro) http://identifiers.org/clinvar/17482 ^@ NM_000493.3(COL10A1):c.1832G>A (p.Trp611Ter) http://identifiers.org/clinvar/17483 ^@ COL4A3, 5-BP DEL, NT4414 http://identifiers.org/clinvar/17484 ^@ NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) http://identifiers.org/clinvar/17485 ^@ NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) http://identifiers.org/clinvar/17488 ^@ COL4A3, ALU INS, EX6 http://identifiers.org/clinvar/17489 ^@ NM_000091.4(COL4A3):c.3044G>A (p.Gly1015Glu) http://identifiers.org/clinvar/17490 ^@ NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) http://identifiers.org/clinvar/17491 ^@ COL4A3, IVS21DS, G-A, -1 http://identifiers.org/clinvar/17492 ^@ NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) http://identifiers.org/clinvar/17493 ^@ CNTF, IVS1AS, G-A, -6 http://identifiers.org/clinvar/17494 ^@ NM_004385.4(VCAN):c.4004-2A>G http://identifiers.org/clinvar/17495 ^@ NM_000748.2(CHRNB2):c.859G>C (p.Val287Leu) http://identifiers.org/clinvar/17496 ^@ NM_000748.2(CHRNB2):c.859G>A (p.Val287Met) http://identifiers.org/clinvar/17497 ^@ NM_000745.3(CHRNA5):c.1192G>A (p.Asp398Asn) http://identifiers.org/clinvar/17498 ^@ NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe) http://identifiers.org/clinvar/17499 ^@ CHRNA4, 3-BP INS, 776GCT http://identifiers.org/clinvar/17500 ^@ NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) http://identifiers.org/clinvar/17503 ^@ NM_001166694.1(CHRNA3):c.645C>T (p.Tyr215=) http://identifiers.org/clinvar/17504 ^@ NM_000742.3(CHRNA2):c.836T>A (p.Ile279Asn) http://identifiers.org/clinvar/17505 ^@ CHAT, 2-BP INS, 523CC http://identifiers.org/clinvar/17506 ^@ NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) http://identifiers.org/clinvar/17507 ^@ NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys) http://identifiers.org/clinvar/17508 ^@ NM_020549.4(CHAT):c.1516G>T (p.Val506Leu) http://identifiers.org/clinvar/17509 ^@ NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly) http://identifiers.org/clinvar/17510 ^@ NM_020549.4(CHAT):c.1679G>A (p.Arg560His) http://identifiers.org/clinvar/17511 ^@ NM_020549.4(CHAT):c.629T>C (p.Leu210Pro) http://identifiers.org/clinvar/17512 ^@ NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu) http://identifiers.org/clinvar/17513 ^@ NM_020549.4(CHAT):c.914T>C (p.Ile305Thr) http://identifiers.org/clinvar/17514 ^@ NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys) http://identifiers.org/clinvar/17515 ^@ NM_020549.4(CHAT):c.1007T>C (p.Ile336Thr) http://identifiers.org/clinvar/17516 ^@ CYP11A1, 6-BP INS http://identifiers.org/clinvar/17517 ^@ NM_000781.2(CYP11A1):c.1057C>T (p.Arg353Trp) http://identifiers.org/clinvar/17518 ^@ NM_000781.2(CYP11A1):c.566C>T (p.Ala189Val) http://identifiers.org/clinvar/17519 ^@ CYP11A1, 1-BP DEL, 835A http://identifiers.org/clinvar/17520 ^@ NM_000781.2(CYP11A1):c.1076C>T (p.Ala359Val) http://identifiers.org/clinvar/17521 ^@ CYP11A1, 1-BP INS, IVS3, T http://identifiers.org/clinvar/17522 ^@ NM_000781.2(CYP11A1):c.422T>G (p.Leu141Trp) http://identifiers.org/clinvar/17523 ^@ NM_000781.2(CYP11A1):c.1244T>A (p.Val415Glu) http://identifiers.org/clinvar/17524 ^@ CETP, IVS14DS, G-A, +1 http://identifiers.org/clinvar/17525 ^@ NM_000078.2(CETP):c.1264G>A (p.Val422Ile) http://identifiers.org/clinvar/17526 ^@ NG_008952.1:g.529C= http://identifiers.org/clinvar/17527 ^@ NM_000078.2(CETP):c.1376A>G (p.Asp459Gly) http://identifiers.org/clinvar/17528 ^@ CETP, 1-BP INS, T, IVS14, +3 http://identifiers.org/clinvar/17529 ^@ NM_000730.2(CCKAR):c.61G>C (p.Gly21Arg) http://identifiers.org/clinvar/17530 ^@ NM_000730.2(CCKAR):c.1093G>A (p.Val365Ile) http://identifiers.org/clinvar/17531 ^@ NM_000083.2(CLCN1):c.1238T>G (p.Phe413Cys) http://identifiers.org/clinvar/17532 ^@ NM_000083.2(CLCN1):c.689G>A (p.Gly230Glu) http://identifiers.org/clinvar/17533 ^@ NM_000083.2(CLCN1):c.2795C>T (p.Pro932Leu) http://identifiers.org/clinvar/17534 ^@ CLCN1, IVSDS, G-A, +1 http://identifiers.org/clinvar/17535 ^@ NM_000083.2(CLCN1):c.1488G>T (p.Arg496Ser) http://identifiers.org/clinvar/17536 ^@ CLCN1, GLY482ARG http://identifiers.org/clinvar/17537 ^@ NM_000083.2(CLCN1):c.1439C>T (p.Pro480Leu) http://identifiers.org/clinvar/17538 ^@ NM_000083.2(CLCN1):c.1655A>G (p.Gln552Arg) http://identifiers.org/clinvar/17539 ^@ NM_000083.2(CLCN1):c.870C>G (p.Ile290Met) http://identifiers.org/clinvar/17540 ^@ CLCN1, 14-BP DEL http://identifiers.org/clinvar/17541 ^@ NM_000083.2(CLCN1):c.871G>A (p.Glu291Lys) http://identifiers.org/clinvar/17542 ^@ NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) http://identifiers.org/clinvar/17543 ^@ NM_000083.2(CLCN1):c.1495G>A (p.Gly499Arg) http://identifiers.org/clinvar/17544 ^@ CLCN1, 1-BP INS, 831G http://identifiers.org/clinvar/17545 ^@ NM_000083.2(CLCN1):c.2680C>T (p.Arg894Ter) http://identifiers.org/clinvar/17546 ^@ NM_000083.2(CLCN1):c.382A>G (p.Met128Val) http://identifiers.org/clinvar/17547 ^@ CLCN1, ARG300TER http://identifiers.org/clinvar/17548 ^@ NM_000083.2(CLCN1):c.566C>T (p.Ser189Phe) http://identifiers.org/clinvar/17549 ^@ CLCN1, TRP433ARG http://identifiers.org/clinvar/17550 ^@ NM_001822.5(CHN1):c.60A>T (p.Leu20Phe) http://identifiers.org/clinvar/17551 ^@ NM_001822.5(CHN1):c.378T>G (p.Ile126Met) http://identifiers.org/clinvar/17552 ^@ NM_001822.5(CHN1):c.427T>C (p.Tyr143His) http://identifiers.org/clinvar/17553 ^@ NM_001822.5(CHN1):c.668C>T (p.Ala223Val) http://identifiers.org/clinvar/17554 ^@ NM_001822.5(CHN1):c.682G>A (p.Gly228Ser) http://identifiers.org/clinvar/17555 ^@ NM_001822.5(CHN1):c.755C>A (p.Pro252Gln) http://identifiers.org/clinvar/17556 ^@ NM_001822.5(CHN1):c.937G>A (p.Glu313Lys) http://identifiers.org/clinvar/17557 ^@ NM_199440.1(HSPD1):c.292G>A (p.Val98Ile) http://identifiers.org/clinvar/17558 ^@ NM_199440.1(HSPD1):c.86A>G (p.Asp29Gly) http://identifiers.org/clinvar/17559 ^@ NM_000096.3(CP):c.3019-1G>A http://identifiers.org/clinvar/17560 ^@ NM_000096.3(CP):c.2389delG (p.Glu797Argfs) http://identifiers.org/clinvar/17561 ^@ NM_000096.3(CP):c.1286_1287insTACAC (p.Asp430Thrfs) http://identifiers.org/clinvar/17562 ^@ NM_000096.3(CP):c.2630G>A (p.Trp877Ter) http://identifiers.org/clinvar/17563 ^@ NM_000096.3(CP):c.606dupA (p.Asp203Argfs) http://identifiers.org/clinvar/17564 ^@ NM_003418.4(CNBP):c.-14-833_-14-830(75_11000) http://identifiers.org/clinvar/17565 ^@ NM_078467.2(CDKN1A):c.93C>A (p.Ser31Arg) http://identifiers.org/clinvar/17566 ^@ NM_004364.4(CEBPA):c.115_121delCCCGCGC (p.Pro39Serfs) http://identifiers.org/clinvar/17567 ^@ NM_004364.4(CEBPA):c.148G>T (p.Glu50Ter) http://identifiers.org/clinvar/17568 ^@ NM_004364.4(CEBPA):c.251A>T (p.His84Leu) http://identifiers.org/clinvar/17569 ^@ NM_004364.4(CEBPA):c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln) http://identifiers.org/clinvar/17570 ^@ NM_004364.4(CEBPA):c.925_951dup27 (p.Leu317_Thr318insGluThrGlnGlnLysValLeuGluLeu) http://identifiers.org/clinvar/17571 ^@ NM_004364.4(CEBPA):c.211_214dupGCCG (p.Ala72Glyfs) http://identifiers.org/clinvar/17572 ^@ NM_004364.4(CEBPA):c.68delC (p.Pro23Argfs) http://identifiers.org/clinvar/17573 ^@ NM_001909.4(CTSD):c.685T>A (p.Phe229Ile) http://identifiers.org/clinvar/17574 ^@ NM_001909.4(CTSD):c.1149G>C (p.Trp383Cys) http://identifiers.org/clinvar/17575 ^@ NM_001909.4(CTSD):c.764dupA (p.Tyr255Terfs) http://identifiers.org/clinvar/17576 ^@ NM_001904.3(CTNNB1):c.133_135delTCT (p.Ser45del) http://identifiers.org/clinvar/17577 ^@ NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr) http://identifiers.org/clinvar/17578 ^@ NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) http://identifiers.org/clinvar/17579 ^@ NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) http://identifiers.org/clinvar/17580 ^@ NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) http://identifiers.org/clinvar/17581 ^@ NM_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr) http://identifiers.org/clinvar/17582 ^@ NM_001904.3(CTNNB1):c.101G>T (p.Gly34Val) http://identifiers.org/clinvar/17583 ^@ NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) http://identifiers.org/clinvar/17584 ^@ NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu) http://identifiers.org/clinvar/17586 ^@ NM_001904.3(CTNNB1):c.110C>T (p.Ser37Phe) http://identifiers.org/clinvar/17587 ^@ NM_001904.3(CTNNB1):c.122C>T (p.Thr41Ile) http://identifiers.org/clinvar/17588 ^@ NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe) http://identifiers.org/clinvar/17589 ^@ NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro) http://identifiers.org/clinvar/17591 ^@ NM_000754.3(COMT):c.472G>A (p.Val158Met) http://identifiers.org/clinvar/17592 ^@ NM_000754.3(COMT):c.214G>T (p.Ala72Ser) http://identifiers.org/clinvar/17593 ^@ NM_000550.2(TYRP1):c.1103delA (p.Lys368Serfs) http://identifiers.org/clinvar/17594 ^@ NM_000550.2(TYRP1):c.497C>G (p.Ser166Ter) http://identifiers.org/clinvar/17595 ^@ NM_000550.2(TYRP1):c.1120C>T (p.Arg374Ter) http://identifiers.org/clinvar/17596 ^@ NM_000550.2(TYRP1):c.1067G>A (p.Arg356Gln) http://identifiers.org/clinvar/17597 ^@ NM_000550.2(TYRP1):c.107delT (p.Leu36Terfs) http://identifiers.org/clinvar/17598 ^@ NM_000550.2(TYRP1):c.1057_1060delAACA (p.Asn353Valfs) http://identifiers.org/clinvar/17599 ^@ CAT, IVS4, G-A, +5 http://identifiers.org/clinvar/17600 ^@ CEL, 1-BP DEL, 1686T http://identifiers.org/clinvar/17601 ^@ CEL, 1-BP DEL, 1785C http://identifiers.org/clinvar/17602 ^@ NM_001025195.1(CES1):c.428G>A (p.Gly143Glu) http://identifiers.org/clinvar/17603 ^@ CES1, 1-BP DEL, 780T http://identifiers.org/clinvar/17604 ^@ NM_004056.5(CA8):c.298T>C (p.Ser100Pro) http://identifiers.org/clinvar/17605 ^@ NM_001738.4(CA1):c.760G>C (p.Gly254Arg) http://identifiers.org/clinvar/17606 ^@ NM_001738.4(CA1):c.740G>A (p.Arg247His) http://identifiers.org/clinvar/17607 ^@ NM_000717.4(CA4):c.40C>T (p.Arg14Trp) http://identifiers.org/clinvar/17608 ^@ NM_000717.4(CA4):c.655C>A (p.Arg219Ser) http://identifiers.org/clinvar/17609 ^@ NM_000717.4(CA4):c.206G>A (p.Arg69His) http://identifiers.org/clinvar/17610 ^@ NM_001232.3(CASQ2):c.919G>C (p.Asp307His) http://identifiers.org/clinvar/17611 ^@ NM_001232.3(CASQ2):c.339_354del16 (p.Ser113Argfs) http://identifiers.org/clinvar/17612 ^@ NM_001232.3(CASQ2):c.500T>A (p.Leu167His) http://identifiers.org/clinvar/17613 ^@ NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln) http://identifiers.org/clinvar/17614 ^@ NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln) http://identifiers.org/clinvar/17615 ^@ NM_000070.2(CAPN3):c.328C>T (p.Arg110Ter) http://identifiers.org/clinvar/17616 ^@ NM_000070.2(CAPN3):c.257C>T (p.Ser86Phe) http://identifiers.org/clinvar/17617 ^@ NM_000070.2(CAPN3):c.956C>T (p.Pro319Leu) http://identifiers.org/clinvar/17618 ^@ NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs) http://identifiers.org/clinvar/17619 ^@ NM_000070.2(CAPN3):c.1080G>C (p.Trp360Cys) http://identifiers.org/clinvar/17620 ^@ NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) http://identifiers.org/clinvar/17621 ^@ NM_000070.2(CAPN3):c.550delA (p.Thr184Argfs) http://identifiers.org/clinvar/17622 ^@ NM_000070.2(CAPN3):c.1469G>A (p.Arg490Gln) http://identifiers.org/clinvar/17623 ^@ NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) http://identifiers.org/clinvar/17624 ^@ NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly) http://identifiers.org/clinvar/17625 ^@ NM_000069.2(CACNA1S):c.1583G>A (p.Arg528His) http://identifiers.org/clinvar/17626 ^@ NM_000069.2(CACNA1S):c.3257G>A (p.Arg1086His) http://identifiers.org/clinvar/17627 ^@ NM_000069.2(CACNA1S):c.-476G>A http://identifiers.org/clinvar/17628 ^@ NM_000069.2(CACNA1S):c.258+57G>A http://identifiers.org/clinvar/17629 ^@ CACNA1S, IVS26, A-G (rs3831308) http://identifiers.org/clinvar/17630 ^@ NM_000069.2(CACNA1S):c.2691G>T (p.Arg897Ser) http://identifiers.org/clinvar/17631 ^@ NM_000069.2(CACNA1S):c.2627T>A (p.Val876Glu) http://identifiers.org/clinvar/17632 ^@ NM_000719.6(CACNA1C):c.1216G>A (p.Gly406Arg) http://identifiers.org/clinvar/17633 ^@ NM_000719.6(CACNA1C):c.1204G>A (p.Gly402Ser) http://identifiers.org/clinvar/17634 ^@ NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) http://identifiers.org/clinvar/17635 ^@ NM_000719.6(CACNA1C):c.116C>T (p.Ala39Val) http://identifiers.org/clinvar/17636 ^@ NM_001164737.1(CALCR):c.1442T>C (p.Leu481Pro) http://identifiers.org/clinvar/17637 ^@ NM_001033952.2(CALCA):c.*730T= http://identifiers.org/clinvar/17638 ^@ NM_001793.5(CDH3):c.981delG (p.Met327Ilefs) http://identifiers.org/clinvar/17639 ^@ NM_001793.5(CDH3):c.1508G>A (p.Arg503His) http://identifiers.org/clinvar/17640 ^@ NM_001793.5(CDH3):c.965A>T (p.Asn322Ile) http://identifiers.org/clinvar/17641 ^@ NM_001793.5(CDH3):c.830delG (p.Gly277Alafs) http://identifiers.org/clinvar/17642 ^@ NM_004933.2(CDH15):c.178C>T (p.Arg60Cys) http://identifiers.org/clinvar/17643 ^@ NM_004933.2(CDH15):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/17644 ^@ NM_004933.2(CDH15):c.365C>T (p.Ala122Val) http://identifiers.org/clinvar/17645 ^@ NM_000494.3(COL17A1):c.3676C>T (p.Arg1226Ter) http://identifiers.org/clinvar/17646 ^@ COL17A1, 1-BP INS, 4150G http://identifiers.org/clinvar/17647 ^@ COL17A1, 5-BP DEL, NT2944 http://identifiers.org/clinvar/17648 ^@ NM_000494.3(COL17A1):c.3067C>T (p.Gln1023Ter) http://identifiers.org/clinvar/17649 ^@ COL17A1, 1-BP DEL, 1706A http://identifiers.org/clinvar/17650 ^@ NM_000494.3(COL17A1):c.3908G>A (p.Arg1303Gln) http://identifiers.org/clinvar/17651 ^@ COL17A1, IVS31AS, A-G, -2 http://identifiers.org/clinvar/17652 ^@ COL17A1, IVS31AS, G-T, -1 http://identifiers.org/clinvar/17653 ^@ COL17A1, 2-BP DEL, 4003TC http://identifiers.org/clinvar/17654 ^@ COL17A1, 2-BP DEL, 520AG http://identifiers.org/clinvar/17655 ^@ COL17A1, 1-BP DEL, 2965G http://identifiers.org/clinvar/17656 ^@ NM_000494.3(COL17A1):c.2564T>G (p.Leu855Ter) http://identifiers.org/clinvar/17657 ^@ NM_000494.3(COL17A1):c.1898G>A (p.Gly633Asp) http://identifiers.org/clinvar/17658 ^@ NM_000494.3(COL17A1):c.433C>T (p.Arg145Ter) http://identifiers.org/clinvar/17659 ^@ UCP1, -3826A-G http://identifiers.org/clinvar/17660 ^@ NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) http://identifiers.org/clinvar/17661 ^@ NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) http://identifiers.org/clinvar/17662 ^@ NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) http://identifiers.org/clinvar/17663 ^@ BRCA1, 59-BP INS http://identifiers.org/clinvar/17665 ^@ NM_007294.3(BRCA1):c.1175_1214del40 (p.Leu392Glnfs) http://identifiers.org/clinvar/17666 ^@ NM_007294.3(BRCA1):c.2296_2297delAG (p.Ser766Terfs) http://identifiers.org/clinvar/17667 ^@ NM_007294.3(BRCA1):c.2681_2682delAA (p.Lys894Thrfs) http://identifiers.org/clinvar/17669 ^@ NM_007294.3(BRCA1):c.3005delA (p.Asn1002Thrfs) http://identifiers.org/clinvar/17670 ^@ NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) http://identifiers.org/clinvar/17671 ^@ NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) http://identifiers.org/clinvar/17672 ^@ NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) http://identifiers.org/clinvar/17673 ^@ NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) http://identifiers.org/clinvar/17674 ^@ NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) http://identifiers.org/clinvar/17675 ^@ NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) http://identifiers.org/clinvar/17676 ^@ NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) http://identifiers.org/clinvar/17677 ^@ NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) http://identifiers.org/clinvar/17679 ^@ NM_007294.3(BRCA1):c.4966_4984del19 (p.Gly1656Leufs) http://identifiers.org/clinvar/17681 ^@ NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) http://identifiers.org/clinvar/17682 ^@ NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) http://identifiers.org/clinvar/17683 ^@ NM_007294.3(BRCA1):c.843_846delCTCA (p.Ser282Tyrfs) http://identifiers.org/clinvar/17684 ^@ NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) http://identifiers.org/clinvar/17685 ^@ NM_007294.3(BRCA1):c.1556delA (p.Lys519Argfs) http://identifiers.org/clinvar/17689 ^@ BRCA1, 1-BP DEL, 4153A http://identifiers.org/clinvar/17690 ^@ BRCA1, 6-KB DUP, EX13 http://identifiers.org/clinvar/17693 ^@ NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) http://identifiers.org/clinvar/17694 ^@ NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) http://identifiers.org/clinvar/17695 ^@ NM_007294.3(BRCA1):c.5324T>A (p.Met1775Lys) http://identifiers.org/clinvar/17696 ^@ NM_170731.4(BDNF):c.29C>T (p.Thr10Ile) http://identifiers.org/clinvar/17697 ^@ NM_170735.5(BDNF):c.196G>A (p.Val66Met) http://identifiers.org/clinvar/17698 ^@ BDNF, -270C-T http://identifiers.org/clinvar/17700 ^@ BMP4, 2-BP DEL, 226AG http://identifiers.org/clinvar/17701 ^@ NM_001202.5(BMP4):c.278A>G (p.Glu93Gly) http://identifiers.org/clinvar/17702 ^@ NM_001202.5(BMP4):c.1037C>T (p.Ala346Val) http://identifiers.org/clinvar/17703 ^@ NM_001202.5(BMP4):c.272C>G (p.Ser91Cys) http://identifiers.org/clinvar/17704 ^@ NM_001202.5(BMP4):c.860G>A (p.Arg287His) http://identifiers.org/clinvar/17705 ^@ MS4A1, IVS5DS, 11-BP INS AND 2-BP DEL http://identifiers.org/clinvar/17706 ^@ CD79A, IVS3AS, A-G, -2 http://identifiers.org/clinvar/17707 ^@ CD79A, IVS2DS, G-A, +1 http://identifiers.org/clinvar/17708 ^@ NM_020485.4(RHCE):c.676G= (p.Ala226=) http://identifiers.org/clinvar/39358 ^@ NM_020485.4(RHCE):c.48G= (p.Trp16=) http://identifiers.org/clinvar/17710 ^@ RHCE, 2-BP DEL, 966T AND 968A http://identifiers.org/clinvar/17711 ^@ RHD, DEL http://identifiers.org/clinvar/17712 ^@ NM_016124.4(RHD):c.329T>C (p.Leu110Pro) http://identifiers.org/clinvar/17713 ^@ NM_016124.4(RHD):c.809T>G (p.Val270Gly) http://identifiers.org/clinvar/17714 ^@ NM_002099.7(GYPA):c.232G>A (p.Gly78Arg) http://identifiers.org/clinvar/17715 ^@ NM_001544.4(ICAM4):c.299A>G (p.Gln100Arg) http://identifiers.org/clinvar/242770 ^@ NM_000149.3(FUT3):c.59T>G (p.Leu20Arg) http://identifiers.org/clinvar/17717 ^@ NM_015865.6(SLC14A1):c.838G>A (p.Asp280Asn) http://identifiers.org/clinvar/17718 ^@ SLC14A1, IVS5AS, G-A, -1 http://identifiers.org/clinvar/17719 ^@ SLC14A1, IVS7DS, G-T, +1 http://identifiers.org/clinvar/17720 ^@ NM_015865.6(SLC14A1):c.871T>C (p.Ser291Pro) http://identifiers.org/clinvar/17721 ^@ SLC14A1, EX4-5 DEL http://identifiers.org/clinvar/17722 ^@ NM_000420.2(KEL):c.578C>T (p.Thr193Met) http://identifiers.org/clinvar/17723 ^@ KEL, IVS3DS, G-C http://identifiers.org/clinvar/17724 ^@ NM_002101.4(GYPC):c.50_106del57 (p.Ala23_Met41del) http://identifiers.org/clinvar/17725 ^@ NM_002101.4(GYPC):c.107_190del84 (p.Glu36_Ala63del) http://identifiers.org/clinvar/17726 ^@ NM_002101.4(GYPC):c.23A>G (p.Asn8Ser) http://identifiers.org/clinvar/17727 ^@ NM_002101.4(GYPC):c.40C>T (p.Leu14Phe) http://identifiers.org/clinvar/17728 ^@ NM_002036.3(ACKR1):c.125G>A (p.Gly42Asp) http://identifiers.org/clinvar/17730 ^@ NM_021071.2(ART4):c.793G>A (p.Asp265Asn) http://identifiers.org/clinvar/17731 ^@ NM_021071.2(ART4):c.145-2A>G http://identifiers.org/clinvar/17732 ^@ NM_021071.2(ART4):c.343_350delATGACTAC (p.Met115Hisfs) http://identifiers.org/clinvar/17733 ^@ NM_021071.2(ART4):c.144+2T>C http://identifiers.org/clinvar/17734 ^@ NM_021071.2(ART4):c.442C>T (p.Gln148Ter) http://identifiers.org/clinvar/17735 ^@ NM_020469.2(ABO):c.261delG (p.Thr88Profs) http://identifiers.org/clinvar/17736 ^@ ABO, 7 NUCLEOTIDE SUBSTITUTIONS http://identifiers.org/clinvar/17737 ^@ NM_020469.2(ABO):c.1061delC (p.Pro354fs) http://identifiers.org/clinvar/242769 ^@ NM_020469.2(ABO):c.467C>T (p.Pro156Leu) http://identifiers.org/clinvar/17739 ^@ NM_020469.2(ABO):c.700C>G (p.Pro234Ala) http://identifiers.org/clinvar/17740 ^@ NM_004048.2(B2M):c.31G>C (p.Ala11Pro) http://identifiers.org/clinvar/17741 ^@ NM_000025.2(ADRB3):c.190T>C (p.Trp64Arg) http://identifiers.org/clinvar/17742 ^@ NM_000024.5(ADRB2):c.46A>G (p.Arg16Gly) http://identifiers.org/clinvar/17743 ^@ NM_000024.5(ADRB2):c.79C>G (p.Gln27Glu) http://identifiers.org/clinvar/17744 ^@ NM_000024.5(ADRB2):c.491C>T (p.Thr164Ile) http://identifiers.org/clinvar/17745 ^@ ADRB2, -47C-T http://identifiers.org/clinvar/17746 ^@ NM_000684.2(ADRB1):c.1165G>C (p.Gly389Arg) http://identifiers.org/clinvar/17747 ^@ NM_000684.2(ADRB1):c.145A>G (p.Ser49Gly) http://identifiers.org/clinvar/17748 ^@ CD40, 455A-T, +5, EX5 http://identifiers.org/clinvar/17749 ^@ NM_001250.5(CD40):c.247T>C (p.Cys83Arg) http://identifiers.org/clinvar/17750 ^@ CD40, IVS3, A-T, -2 http://identifiers.org/clinvar/17751 ^@ NM_198589.2(BSG):c.274G>A (p.Glu92Lys) http://identifiers.org/clinvar/17752 ^@ NM_000342.3(SLC4A1):c.166A>G (p.Lys56Glu) http://identifiers.org/clinvar/17753 ^@ NM_000342.3(SLC4A1):c.1199_1225del27 (p.Ala400_Ala408del) http://identifiers.org/clinvar/17754 ^@ NM_000342.3(SLC4A1):c.-62G>A http://identifiers.org/clinvar/17755 ^@ NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) http://identifiers.org/clinvar/17756 ^@ NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/17757 ^@ NM_000342.3(SLC4A1):c.1669G>A (p.Val557Met) http://identifiers.org/clinvar/17758 ^@ NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs) http://identifiers.org/clinvar/17759 ^@ NM_000342.3(SLC4A1):c.1972G>A (p.Glu658Lys) http://identifiers.org/clinvar/17760 ^@ NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) http://identifiers.org/clinvar/17761 ^@ NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) http://identifiers.org/clinvar/17762 ^@ NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) http://identifiers.org/clinvar/17763 ^@ NM_000342.3(SLC4A1):c.1766G>A (p.Arg589His) http://identifiers.org/clinvar/17764 ^@ NM_000342.3(SLC4A1):c.1765C>T (p.Arg589Cys) http://identifiers.org/clinvar/17765 ^@ NM_000342.3(SLC4A1):c.1838C>T (p.Ser613Phe) http://identifiers.org/clinvar/17766 ^@ NM_000342.3(SLC4A1):c.1765C>A (p.Arg589Ser) http://identifiers.org/clinvar/17767 ^@ NM_000342.3(SLC4A1):c.2102G>A (p.Gly701Asp) http://identifiers.org/clinvar/17768 ^@ NM_000342.3(SLC4A1):c.2561C>T (p.Pro854Leu) http://identifiers.org/clinvar/17769 ^@ NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) http://identifiers.org/clinvar/17770 ^@ NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) http://identifiers.org/clinvar/17771 ^@ NM_000342.3(SLC4A1):c.2573C>A (p.Ala858Asp) http://identifiers.org/clinvar/17772 ^@ NM_000342.3(SLC4A1):c.2548_2550delGTG (p.Val850del) http://identifiers.org/clinvar/17773 ^@ NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) http://identifiers.org/clinvar/17774 ^@ NM_000342.3(SLC4A1):c.1936C>T (p.Arg646Trp) http://identifiers.org/clinvar/17775 ^@ NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) http://identifiers.org/clinvar/17776 ^@ NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) http://identifiers.org/clinvar/17777 ^@ SLC4A1, 13-BP INS, 9-BP DEL http://identifiers.org/clinvar/17778 ^@ NM_000342.3(SLC4A1):c.2317T>C (p.Ser773Pro) http://identifiers.org/clinvar/17779 ^@ NM_000342.3(SLC4A1):c.1805G>C (p.Arg602Pro) http://identifiers.org/clinvar/17780 ^@ NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) http://identifiers.org/clinvar/17781 ^@ NM_000342.3(SLC4A1):c.1438G>A (p.Glu480Lys) http://identifiers.org/clinvar/17782 ^@ NM_000342.3(SLC4A1):c.1937G>A (p.Arg646Gln) http://identifiers.org/clinvar/17783 ^@ NM_000342.3(SLC4A1):c.2603C>T (p.Pro868Leu) http://identifiers.org/clinvar/17784 ^@ NM_003995.3(NPR2):c.94C>A (p.Pro32Thr) http://identifiers.org/clinvar/17785 ^@ NM_003995.3(NPR2):c.343T>G (p.Trp115Gly) http://identifiers.org/clinvar/17786 ^@ NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) http://identifiers.org/clinvar/17787 ^@ NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter) http://identifiers.org/clinvar/17788 ^@ NM_006172.3(NPPA):c.456_*1delAA http://identifiers.org/clinvar/17789 ^@ NM_170665.3(ATP2A2):c.68G>A (p.Gly23Glu) http://identifiers.org/clinvar/17790 ^@ NM_001681.3(ATP2A2):c.322C>T (p.Gln108Ter) http://identifiers.org/clinvar/17791 ^@ ATP2A2, IVS6DS, G-A, +1 http://identifiers.org/clinvar/17792 ^@ NM_001681.3(ATP2A2):c.2300A>G (p.Asn767Ser) http://identifiers.org/clinvar/17793 ^@ NM_001681.3(ATP2A2):c.803G>T (p.Cys268Phe) http://identifiers.org/clinvar/17794 ^@ NM_001681.3(ATP2A2):c.1678T>C (p.Cys560Arg) http://identifiers.org/clinvar/17795 ^@ ATP2A2, 18-BP INS, IVS2, -12 http://identifiers.org/clinvar/17796 ^@ ATP2A2, ASN754 DEL http://identifiers.org/clinvar/17797 ^@ NM_001681.3(ATP2A2):c.2682C>A (p.Tyr894Ter) http://identifiers.org/clinvar/17798 ^@ NM_170665.3(ATP2A2):c.2305G>A (p.Gly769Arg) http://identifiers.org/clinvar/17799 ^@ NM_001681.3(ATP2A2):c.1805C>T (p.Pro602Leu) http://identifiers.org/clinvar/17800 ^@ NM_001681.3(ATP2A2):c.392G>A (p.Arg131Gln) http://identifiers.org/clinvar/17801 ^@ NM_001001331.2(ATP2B2):c.1891G>A (p.Val631Met) http://identifiers.org/clinvar/17802 ^@ NM_004320.4(ATP2A1):c.592C>T (p.Arg198Ter) http://identifiers.org/clinvar/17803 ^@ NM_004320.4(ATP2A1):c.2025C>A (p.Cys675Ter) http://identifiers.org/clinvar/17804 ^@ ATP2A1, IVS3DS, G-C, -2 http://identifiers.org/clinvar/17805 ^@ ATP2A1, 1-BP DEL, 437C http://identifiers.org/clinvar/17806 ^@ NM_004320.4(ATP2A1):c.2366C>T (p.Pro789Leu) http://identifiers.org/clinvar/17807 ^@ NAT1*10 ALLELE http://identifiers.org/clinvar/17808 ^@ NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) http://identifiers.org/clinvar/17809 ^@ NM_001082971.1(DDC):c.304G>A (p.Gly102Ser) http://identifiers.org/clinvar/17810 ^@ NM_001082971.1(DDC):c.749C>T (p.Ser250Phe) http://identifiers.org/clinvar/17811 ^@ NM_001082971.1(DDC):c.925T>C (p.Phe309Leu) http://identifiers.org/clinvar/17812 ^@ NM_001082971.1(DDC):c.439A>C (p.Ser147Arg) http://identifiers.org/clinvar/17813 ^@ NM_001082971.1(DDC):c.272C>T (p.Ala91Val) http://identifiers.org/clinvar/17814 ^@ NM_001082971.1(DDC):c.823G>A (p.Ala275Thr) http://identifiers.org/clinvar/17815 ^@ NM_031226.2(CYP19A1):c.1303C>T (p.Arg435Cys) http://identifiers.org/clinvar/17816 ^@ NM_031226.2(CYP19A1):c.1310G>A (p.Cys437Tyr) http://identifiers.org/clinvar/17817 ^@ NM_031226.2(CYP19A1):c.743+2T>C http://identifiers.org/clinvar/17818 ^@ NM_031226.2(CYP19A1):c.1123C>T (p.Arg375Cys) http://identifiers.org/clinvar/17819 ^@ NM_031226.2(CYP19A1):c.1224delC (p.Lys409Asnfs) http://identifiers.org/clinvar/17820 ^@ NM_031226.2(CYP19A1):c.296+1G>A http://identifiers.org/clinvar/17821 ^@ NM_031226.2(CYP19A1):c.1094G>A (p.Arg365Gln) http://identifiers.org/clinvar/17822 ^@ CYP19A1, 1-BP DEL, C, CODON 156 http://identifiers.org/clinvar/17823 ^@ NM_031226.2(CYP19A1):c.629-3C>A http://identifiers.org/clinvar/17824 ^@ CYP19A1, INV, CGNL1 PROMOTER http://identifiers.org/clinvar/17825 ^@ CYP19A1, INV, TMOD3 PROMOTER http://identifiers.org/clinvar/17826 ^@ NM_031226.2(CYP19A1):c.628G>A (p.Glu210Lys) http://identifiers.org/clinvar/17827 ^@ CYP19A1, CYP19A1/TRPM7 FUSION http://identifiers.org/clinvar/17828 ^@ NM_000486.5(AQP2):c.559C>T (p.Arg187Cys) http://identifiers.org/clinvar/17829 ^@ NM_000486.5(AQP2):c.646T>C (p.Ser216Pro) http://identifiers.org/clinvar/17830 ^@ NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) http://identifiers.org/clinvar/17831 ^@ AQP2, 1-BP DEL, 369C http://identifiers.org/clinvar/17832 ^@ NM_000486.5(AQP2):c.439G>A (p.Ala147Thr) http://identifiers.org/clinvar/17833 ^@ NM_000486.5(AQP2):c.377C>T (p.Thr126Met) http://identifiers.org/clinvar/17834 ^@ NM_000486.5(AQP2):c.203A>G (p.Asn68Ser) http://identifiers.org/clinvar/17835 ^@ NM_000486.5(AQP2):c.523G>A (p.Gly175Arg) http://identifiers.org/clinvar/17836 ^@ NM_000486.5(AQP2):c.772G>A (p.Glu258Lys) http://identifiers.org/clinvar/17837 ^@ NM_000486.5(AQP2):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/17838 ^@ NM_000486.5(AQP2):c.64C>G (p.Leu22Val) http://identifiers.org/clinvar/17839 ^@ NM_000486.5(AQP2):c.543C>G (p.Cys181Trp) http://identifiers.org/clinvar/17840 ^@ AQP2, 1-BP DEL, 721G http://identifiers.org/clinvar/17841 ^@ AQP2, 1-BP DEL, 727G http://identifiers.org/clinvar/17842 ^@ NM_000486.5(AQP2):c.170A>C (p.Gln57Pro) http://identifiers.org/clinvar/17843 ^@ NM_000486.5(AQP2):c.299G>T (p.Gly100Val) http://identifiers.org/clinvar/17844 ^@ NM_000486.5(AQP2):c.785C>T (p.Pro262Leu) http://identifiers.org/clinvar/17845 ^@ NM_000486.5(AQP2):c.568G>A (p.Ala190Thr) http://identifiers.org/clinvar/17846 ^@ NM_198098.3(AQP1):c.134C>T (p.Ala45Val) http://identifiers.org/clinvar/17847 ^@ NM_198098.3(AQP1):c.113C>T (p.Pro38Leu) http://identifiers.org/clinvar/17848 ^@ NM_000041.2(APOE):c.526C>T (p.Arg176Cys) http://identifiers.org/clinvar/17849 ^@ NM_000041.3(APOE):c.61G>A (p.Glu21Lys) http://identifiers.org/clinvar/17850 ^@ NM_000041.3(APOE):c.460C>A (p.Arg154Ser) http://identifiers.org/clinvar/17851 ^@ NM_000041.3(APOE):c.487C>T (p.Arg163Cys) http://identifiers.org/clinvar/17852 ^@ NM_000041.3(APOE):c.237-2A>G http://identifiers.org/clinvar/17853 ^@ NM_000041.3(APOE):c.415_435dup21 (p.Gly145_Gln146insGluValGlnAlaMetLeuGly) http://identifiers.org/clinvar/242768 ^@ NM_000041.3(APOE):c.784G>A (p.Glu262Lys) http://identifiers.org/clinvar/242767 ^@ NM_000041.3(APOE):c.434G>A (p.Gly145Asp) http://identifiers.org/clinvar/17857 ^@ NM_000041.3(APOE):c.490A>G (p.Lys164Glu) http://identifiers.org/clinvar/17858 ^@ NM_000041.3(APOE):c.490A>C (p.Lys164Gln) http://identifiers.org/clinvar/17859 ^@ NM_000041.3(APOE):c.736C>T (p.Arg246Cys) http://identifiers.org/clinvar/242766 ^@ NM_000041.3(APOE):c.91G>A (p.Glu31Lys) http://identifiers.org/clinvar/17861 ^@ APOE, 1-BP DEL, 2919G http://identifiers.org/clinvar/17862 ^@ NM_000041.3(APOE):c.683G>A (p.Trp228Ter) http://identifiers.org/clinvar/17863 ^@ APOE, CYS112 AND ARG158 http://identifiers.org/clinvar/17864 ^@ NM_000041.3(APOE):c.388T>C (p.Cys130Arg) http://identifiers.org/clinvar/17865 ^@ NM_000041.3(APOE):c.488G>A (p.Arg163His) http://identifiers.org/clinvar/242765 ^@ NM_000041.3(APOE):c.137T>C (p.Leu46Pro) http://identifiers.org/clinvar/17871 ^@ NM_000041.3(APOE):c.178A>G (p.Thr60Ala) http://identifiers.org/clinvar/242764 ^@ NM_000041.3(APOE):c.305C>G (p.Pro102Arg) http://identifiers.org/clinvar/242763 ^@ NM_000041.3(APOE):c.349G>A (p.Ala117Thr) http://identifiers.org/clinvar/17874 ^@ NM_000041.3(APOE):c.455G>A (p.Arg152Gln) http://identifiers.org/clinvar/17875 ^@ NM_000041.3(APOE):c.875G>A (p.Arg292His) http://identifiers.org/clinvar/17876 ^@ NM_000041.3(APOE):c.940A>C (p.Ser314Arg) http://identifiers.org/clinvar/17877 ^@ NM_000041.3(APOE):c.-83-203T= http://identifiers.org/clinvar/17878 ^@ APOE, 3-BP DEL, 499CTC http://identifiers.org/clinvar/17879 ^@ NM_000041.3(APOE):c.488G>C (p.Arg163Pro) http://identifiers.org/clinvar/17880 ^@ NM_000041.3(APOE):c.127C>T (p.Arg43Cys) http://identifiers.org/clinvar/17881 ^@ NM_000384.2(APOB):c.5263_5266delAACA (p.Asn1755Valfs) http://identifiers.org/clinvar/17882 ^@ NM_000384.2(APOB):c.5463delG (p.His1822Metfs) http://identifiers.org/clinvar/17883 ^@ NM_000384.2(APOB):c.3997C>T (p.Arg1333Ter) http://identifiers.org/clinvar/17884 ^@ NM_000384.2(APOB):c.5566_5567delGT (p.Val1856Cysfs) http://identifiers.org/clinvar/17885 ^@ NM_000384.2(APOB):c.12181delG (p.Glu4061Argfs) http://identifiers.org/clinvar/17886 ^@ APOB, EX21DEL http://identifiers.org/clinvar/17887 ^@ NM_000384.2(APOB):c.6253C>T (p.Arg2085Ter) http://identifiers.org/clinvar/17888 ^@ NM_000384.2(APOB):c.11905delG (p.Glu3969Asnfs) http://identifiers.org/clinvar/17889 ^@ NM_000384.2(APOB):c.4352delG (p.Gly1451Valfs) http://identifiers.org/clinvar/17890 ^@ NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) http://identifiers.org/clinvar/17891 ^@ APOB, INS AND DEL http://identifiers.org/clinvar/17892 ^@ NM_000384.2(APOB):c.9199delA (p.Lys3067Argfs) http://identifiers.org/clinvar/17893 ^@ NM_000384.2(APOB):c.6835C>T (p.Gln2279Ter) http://identifiers.org/clinvar/17894 ^@ NM_000384.2(APOB):c.4429C>T (p.Gln1477Ter) http://identifiers.org/clinvar/17895 ^@ NM_000384.2(APOB):c.7564C>T (p.Arg2522Ter) http://identifiers.org/clinvar/17896 ^@ NM_000384.2(APOB):c.11712delC (p.Asn3904Lysfs) http://identifiers.org/clinvar/17897 ^@ NM_000384.2(APOB):c.10672C>T (p.Arg3558Cys) http://identifiers.org/clinvar/17898 ^@ APOB, IVS7AS, A-G, -2 http://identifiers.org/clinvar/17899 ^@ APOB, 1-BP DEL, 4432T http://identifiers.org/clinvar/17900 ^@ APOB, 4-BP DEL, NT36491 http://identifiers.org/clinvar/17901 ^@ NM_000384.2(APOB):c.3600T>A (p.Tyr1200Ter) http://identifiers.org/clinvar/17902 ^@ NM_000040.1(APOC3):c.280A>G (p.Thr94Ala) http://identifiers.org/clinvar/17903 ^@ NM_000040.1(APOC3):c.232A>G (p.Lys78Glu) http://identifiers.org/clinvar/17904 ^@ NM_000040.1(APOC3):c.55C>T (p.Arg19Ter) http://identifiers.org/clinvar/17905 ^@ NM_000482.3(APOA4):c.1140G>T (p.Gln380His) http://identifiers.org/clinvar/17906 ^@ APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 http://identifiers.org/clinvar/17907 ^@ NM_000482.3(APOA4):c.748G>A (p.Glu250Lys) http://identifiers.org/clinvar/17908 ^@ APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5 http://identifiers.org/clinvar/17909 ^@ NM_000039.2(APOA1):c.589C>T (p.Arg197Cys) http://identifiers.org/clinvar/17910 ^@ NM_000039.2(APOA1):c.500C>G (p.Pro167Arg) http://identifiers.org/clinvar/17911 ^@ NM_000039.2(APOA1):c.391A>T (p.Lys131Ter) http://identifiers.org/clinvar/17912 ^@ NM_000039.2(APOA1):c.664G>A (p.Glu222Lys) http://identifiers.org/clinvar/17913 ^@ NM_000039.2(APOA1):c.478G>A (p.Glu160Lys) http://identifiers.org/clinvar/17914 ^@ NM_000039.2(APOA1):c.80C>G (p.Pro27Arg) http://identifiers.org/clinvar/17915 ^@ NM_000039.2(APOA1):c.83C>G (p.Pro28Arg) http://identifiers.org/clinvar/17916 ^@ NM_000039.2(APOA1):c.566C>G (p.Pro189Arg) http://identifiers.org/clinvar/17917 ^@ NM_000039.2(APOA1):c.148G>C (p.Gly50Arg) http://identifiers.org/clinvar/17918 ^@ APOA1, APOA1/APOC3 FUSION http://identifiers.org/clinvar/17919 ^@ APOA1, DEL http://identifiers.org/clinvar/17920 ^@ NM_000039.2(APOA1):c.101G>T (p.Arg34Leu) http://identifiers.org/clinvar/17921 ^@ APOA1, 1-BP DEL, CODON 202 http://identifiers.org/clinvar/17922 ^@ NM_000039.2(APOA1):c.322C>T (p.Gln108Ter) http://identifiers.org/clinvar/17923 ^@ NM_000039.2(APOA1):c.251T>G (p.Leu84Arg) http://identifiers.org/clinvar/17924 ^@ NM_000039.2(APOA1):c.67C>T (p.Gln23Ter) http://identifiers.org/clinvar/17925 ^@ APOA1, 1-BP INS http://identifiers.org/clinvar/17926 ^@ NM_000039.2(APOA1):c.166C>T (p.Gln56Ter) http://identifiers.org/clinvar/17927 ^@ APOA1, 12-BP DEL AND 2-BP INS http://identifiers.org/clinvar/17928 ^@ NM_000039.2(APOA1):c.220T>C (p.Trp74Arg) http://identifiers.org/clinvar/17929 ^@ NM_000039.2(APOA1):c.539T>A (p.Val180Glu) http://identifiers.org/clinvar/17930 ^@ APOA1, IVS2, G-C, +1 http://identifiers.org/clinvar/17931 ^@ NM_000039.2(APOA1):c.341T>C (p.Leu114Pro) http://identifiers.org/clinvar/17932 ^@ NM_000039.2(APOA1):c.518G>C (p.Arg173Pro) http://identifiers.org/clinvar/17933 ^@ NM_000039.2(APOA1):c.593T>C (p.Leu198Ser) http://identifiers.org/clinvar/17934 ^@ NM_000039.2(APOA1):c.595G>C (p.Ala199Pro) http://identifiers.org/clinvar/17935 ^@ APOA2, IVS3, G-A, +1 http://identifiers.org/clinvar/17936 ^@ APOA2, -265T-C http://identifiers.org/clinvar/17937 ^@ NM_001042425.1(TFAP2A):c.751A>G (p.Arg251Gly) http://identifiers.org/clinvar/17938 ^@ NM_001042425.1(TFAP2A):c.773G>A (p.Gly258Glu) http://identifiers.org/clinvar/17939 ^@ TFAP2A, 12-BP DEL, NT697 http://identifiers.org/clinvar/17940 ^@ TFAP2A, PHE319SER http://identifiers.org/clinvar/17941 ^@ TFAP2A, 18-BP DEL/6-BP INS, NT828 http://identifiers.org/clinvar/17942 ^@ NM_000416.2(IFNGR1):c.446C>A (p.Ser149Ter) http://identifiers.org/clinvar/17943 ^@ NM_000416.2(IFNGR1):c.131delC (p.Pro44Leufs) http://identifiers.org/clinvar/17944 ^@ NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr) http://identifiers.org/clinvar/17945 ^@ NM_000416.2(IFNGR1):c.104_107dupTTAC (p.Ile37Tyrfs) http://identifiers.org/clinvar/17946 ^@ NM_000416.2(IFNGR1):c.200+1G>A http://identifiers.org/clinvar/17947 ^@ NM_000416.2(IFNGR1):c.819_822delTAAT (p.Asn274Hisfs) http://identifiers.org/clinvar/17948 ^@ NM_000416.2(IFNGR1):c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del) http://identifiers.org/clinvar/17949 ^@ NM_000416.2(IFNGR1):c.230G>A (p.Cys77Tyr) http://identifiers.org/clinvar/17950 ^@ NM_000416.2(IFNGR1):c.182T>A (p.Val61Glu) http://identifiers.org/clinvar/17951 ^@ NM_000416.2(IFNGR1):c.653_655delAAG (p.Glu218del) http://identifiers.org/clinvar/17952 ^@ NM_000416.2(IFNGR1):c.819delT (p.Asn274Ilefs) http://identifiers.org/clinvar/17953 ^@ IFNGR1, -56C-T http://identifiers.org/clinvar/17954 ^@ NM_000416.2(IFNGR1):c.794delT (p.Phe265Serfs) http://identifiers.org/clinvar/17955 ^@ NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) http://identifiers.org/clinvar/17956 ^@ NM_001127701.1(SERPINA1):c.710T= (p.Val237=) http://identifiers.org/clinvar/17957 ^@ NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) http://identifiers.org/clinvar/17958 ^@ NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) http://identifiers.org/clinvar/17960 ^@ PI B(ALHAMBRA) http://identifiers.org/clinvar/17961 ^@ NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) http://identifiers.org/clinvar/17962 ^@ NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) http://identifiers.org/clinvar/17963 ^@ NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/17964 ^@ NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) http://identifiers.org/clinvar/17965 ^@ NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) http://identifiers.org/clinvar/17966 ^@ NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) http://identifiers.org/clinvar/17967 ^@ NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) http://identifiers.org/clinvar/17969 ^@ NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) http://identifiers.org/clinvar/17970 ^@ NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) http://identifiers.org/clinvar/17971 ^@ NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) http://identifiers.org/clinvar/393473 ^@ NM_001127701.1(SERPINA1):c.514G>A (p.Gly172Arg) http://identifiers.org/clinvar/17973 ^@ PI NULL(HONG KONG 2) http://identifiers.org/clinvar/17974 ^@ NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) http://identifiers.org/clinvar/17975 ^@ NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) http://identifiers.org/clinvar/17976 ^@ NM_001127701.1(SERPINA1):c.552delC (p.Tyr184Terfs) http://identifiers.org/clinvar/17977 ^@ NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) http://identifiers.org/clinvar/17978 ^@ NM_001127701.1(SERPINA1):c.1131A>T (p.Leu377Phe) http://identifiers.org/clinvar/17979 ^@ PI NULL(PROCIDA) http://identifiers.org/clinvar/17980 ^@ PI NULL(HONG KONG 1) http://identifiers.org/clinvar/17981 ^@ PI NULL(BOLTON) http://identifiers.org/clinvar/17982 ^@ NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) http://identifiers.org/clinvar/17983 ^@ NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) http://identifiers.org/clinvar/17985 ^@ NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) http://identifiers.org/clinvar/17986 ^@ NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) http://identifiers.org/clinvar/17987 ^@ NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) http://identifiers.org/clinvar/17988 ^@ PI NULL(RIEDENBURG) http://identifiers.org/clinvar/17989 ^@ PI KALSHEKER-POLLER http://identifiers.org/clinvar/17991 ^@ PI NULL(WEST) http://identifiers.org/clinvar/17992 ^@ NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) http://identifiers.org/clinvar/17993 ^@ NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) http://identifiers.org/clinvar/17994 ^@ NM_001182.4(ALDH7A1):c.1279G>C (p.Glu427Gln) http://identifiers.org/clinvar/17995 ^@ NM_001182.4(ALDH7A1):c.328C>T (p.Arg110Ter) http://identifiers.org/clinvar/17996 ^@ ALDH7A1, IVS5AS, G-C, -1 http://identifiers.org/clinvar/17997 ^@ ALDH7A1, IVS3DS, T-A, +2 http://identifiers.org/clinvar/17998 ^@ NM_001182.4(ALDH7A1):c.596C>T (p.Ala199Val) http://identifiers.org/clinvar/17999 ^@ NM_001182.4(ALDH7A1):c.1597delG (p.Ala533Profs) http://identifiers.org/clinvar/18000 ^@ NM_001182.4(ALDH7A1):c.1224T>G (p.Tyr408Ter) http://identifiers.org/clinvar/18001 ^@ NM_001182.4(ALDH7A1):c.902A>T (p.Asn301Ile) http://identifiers.org/clinvar/18002 ^@ ALDH7A1, 750G-A http://identifiers.org/clinvar/18003 ^@ NM_000488.3(SERPINC1):c.1306G>A (p.Ala436Thr) http://identifiers.org/clinvar/18004 ^@ NM_000488.3(SERPINC1):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/18005 ^@ SERPINC1 http://identifiers.org/clinvar/18006 ^@ SERPINC1 http://identifiers.org/clinvar/18007 ^@ NM_000488.3(SERPINC1):c.1246G>C (p.Ala416Pro) http://identifiers.org/clinvar/18008 ^@ SERPINC1 http://identifiers.org/clinvar/18009 ^@ NM_000488.3(SERPINC1):c.1274G>C (p.Arg425Pro) http://identifiers.org/clinvar/18010 ^@ NM_000488.3(SERPINC1):c.1277C>T (p.Ser426Leu) http://identifiers.org/clinvar/18011 ^@ NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) http://identifiers.org/clinvar/18012 ^@ NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) http://identifiers.org/clinvar/18013 ^@ SERPINC1 http://identifiers.org/clinvar/18014 ^@ NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) http://identifiers.org/clinvar/18015 ^@ NM_000488.3(SERPINC1):c.235C>A (p.Arg79Ser) http://identifiers.org/clinvar/18016 ^@ NM_000488.3(SERPINC1):c.1273C>T (p.Arg425Cys) http://identifiers.org/clinvar/18017 ^@ NM_000488.3(SERPINC1):c.1316C>T (p.Pro439Leu) http://identifiers.org/clinvar/18019 ^@ NM_000488.3(SERPINC1):c.1274G>A (p.Arg425His) http://identifiers.org/clinvar/18020 ^@ NM_000488.3(SERPINC1):c.1240G>A (p.Ala414Thr) http://identifiers.org/clinvar/18021 ^@ NM_000488.3(SERPINC1):c.116T>A (p.Ile39Asn) http://identifiers.org/clinvar/18022 ^@ NM_000488.3(SERPINC1):c.166C>T (p.Arg56Cys) http://identifiers.org/clinvar/18023 ^@ NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) http://identifiers.org/clinvar/18024 ^@ SERPINC1, 1-BP DEL, A http://identifiers.org/clinvar/18025 ^@ SERPINC1, 2-BP DEL, AG http://identifiers.org/clinvar/18026 ^@ SERPINC1, 1-BP INS, 780A http://identifiers.org/clinvar/18027 ^@ NM_000488.3(SERPINC1):c.967_968delAG (p.Ser323Profs) http://identifiers.org/clinvar/18028 ^@ NM_000488.3(SERPINC1):c.1021_1024delGATG (p.Asp341Asnfs) http://identifiers.org/clinvar/18029 ^@ NM_000488.3(SERPINC1):c.481C>T (p.Arg161Ter) http://identifiers.org/clinvar/18030 ^@ NM_000488.3(SERPINC1):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/18031 ^@ NM_000488.3(SERPINC1):c.1382C>T (p.Pro461Leu) http://identifiers.org/clinvar/18032 ^@ NM_000488.3(SERPINC1):c.1141T>C (p.Ser381Pro) http://identifiers.org/clinvar/18033 ^@ NM_000488.3(SERPINC1):c.1271G>A (p.Gly424Asp) http://identifiers.org/clinvar/18034 ^@ NM_000488.3(SERPINC1):c.391C>T (p.Leu131Phe) http://identifiers.org/clinvar/18035 ^@ SERPINC1, 1-BP INS, T, CODON 48 http://identifiers.org/clinvar/18036 ^@ SERPINC1, 1-BP INS, A, CODON 208 http://identifiers.org/clinvar/18037 ^@ SERPINC1, 1-BP DEL, A, CODON 370 http://identifiers.org/clinvar/18038 ^@ NM_000488.3(SERPINC1):c.1256C>T (p.Ala419Val) http://identifiers.org/clinvar/18039 ^@ NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro) http://identifiers.org/clinvar/18040 ^@ NM_000488.3(SERPINC1):c.68T>C (p.Leu23Pro) http://identifiers.org/clinvar/18041 ^@ NM_000488.3(SERPINC1):c.500A>C (p.Asn167Thr) http://identifiers.org/clinvar/18042 ^@ NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp) http://identifiers.org/clinvar/18043 ^@ NM_000488.3(SERPINC1):c.667T>C (p.Ser223Pro) http://identifiers.org/clinvar/18044 ^@ NM_000488.3(SERPINC1):c.379T>C (p.Cys127Arg) http://identifiers.org/clinvar/18045 ^@ SERPINC1, 3-BP DEL http://identifiers.org/clinvar/18046 ^@ SERPINC1, 9-BP DEL, NT13395 http://identifiers.org/clinvar/18047 ^@ NM_001085.4(SERPINA3):c.1240A>G (p.Met414Val) http://identifiers.org/clinvar/18048 ^@ SERPINA3, 2-BP DEL http://identifiers.org/clinvar/18049 ^@ NM_001085.4(SERPINA3):c.233T>C (p.Leu78Pro) http://identifiers.org/clinvar/18050 ^@ NM_001085.4(SERPINA3):c.754C>G (p.Pro252Ala) http://identifiers.org/clinvar/18051 ^@ NM_001085.4(SERPINA3):c.25G>A (p.Ala9Thr) http://identifiers.org/clinvar/18052 ^@ CD59, 1-BP DEL, CODON 16 http://identifiers.org/clinvar/18053 ^@ NM_001001391.1(CD44):c.136C>G (p.Arg46Gly) http://identifiers.org/clinvar/18054 ^@ CD19, 1-BP INS, 972A http://identifiers.org/clinvar/18055 ^@ CD19, 2-BP DEL, 1384GA http://identifiers.org/clinvar/18056 ^@ NM_001148.4(ANK2):c.4373A>G (p.Glu1458Gly) http://identifiers.org/clinvar/18057 ^@ NM_001148.4(ANK2):c.11231C>A (p.Thr3744Asn) http://identifiers.org/clinvar/18058 ^@ NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile) http://identifiers.org/clinvar/18059 ^@ NM_001148.4(ANK2):c.11716C>T (p.Arg3906Trp) http://identifiers.org/clinvar/18060 ^@ NM_001148.4(ANK2):c.11791G>A (p.Glu3931Lys) http://identifiers.org/clinvar/18061 ^@ NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382 http://identifiers.org/clinvar/18062 ^@ NM_000789.3(ACE):c.3683C>T (p.Pro1228Leu) http://identifiers.org/clinvar/18063 ^@ NM_000789.3(ACE):c.798C>G (p.Tyr266Ter) http://identifiers.org/clinvar/18064 ^@ NM_000789.3(ACE):c.1319_1322delTGGA (p.Leu440Profs) http://identifiers.org/clinvar/18065 ^@ NM_031850.3(AGTR1):c.*86A>C http://identifiers.org/clinvar/18066 ^@ NM_031850.3(AGTR1):c.215dupT (p.Ile73Hisfs) http://identifiers.org/clinvar/18067 ^@ NM_031850.3(AGTR1):c.950C>T (p.Thr317Met) http://identifiers.org/clinvar/18068 ^@ NM_000029.3(AGT):c.803T>C (p.Met268Thr) http://identifiers.org/clinvar/18069 ^@ AGT, -6A HAPLOTYPE http://identifiers.org/clinvar/18070 ^@ NM_000029.3(AGT):c.1124G>A (p.Arg375Gln) http://identifiers.org/clinvar/18071 ^@ NM_000029.3(AGT):c.604C>T (p.Gln202Ter) http://identifiers.org/clinvar/18072 ^@ NM_000029.3(AGT):c.1290delT (p.Phe430Leufs) http://identifiers.org/clinvar/18073 ^@ NM_001145.4(ANG):c.107A>T (p.Gln36Leu) http://identifiers.org/clinvar/18074 ^@ NM_001145.4(ANG):c.122A>T (p.Lys41Ile) http://identifiers.org/clinvar/18075 ^@ NM_001145.4(ANG):c.121A>G (p.Lys41Glu) http://identifiers.org/clinvar/18076 ^@ NM_001145.4(ANG):c.164G>A (p.Arg55Lys) http://identifiers.org/clinvar/18077 ^@ NM_001145.4(ANG):c.189C>G (p.Cys63Trp) http://identifiers.org/clinvar/18078 ^@ NM_001145.4(ANG):c.191A>T (p.Lys64Ile) http://identifiers.org/clinvar/18079 ^@ NM_001145.4(ANG):c.208A>G (p.Ile70Val) http://identifiers.org/clinvar/18080 ^@ NM_001145.4(ANG):c.155G>A (p.Ser52Asn) http://identifiers.org/clinvar/18081 ^@ NM_001145.4(ANG):c.407C>T (p.Pro136Leu) http://identifiers.org/clinvar/18082 ^@ NM_001145.4(ANG):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/18083 ^@ NM_004304.4(ALK):c.3824G>A (p.Arg1275Gln) http://identifiers.org/clinvar/18084 ^@ NM_004304.4(ALK):c.3383G>C (p.Gly1128Ala) http://identifiers.org/clinvar/18085 ^@ NM_004304.4(ALK):c.3575G>C (p.Arg1192Pro) http://identifiers.org/clinvar/18086 ^@ NM_004304.4(ALK):c.3452C>T (p.Thr1151Met) http://identifiers.org/clinvar/18087 ^@ NM_000484.3(APP):c.2077G>C (p.Glu693Gln) http://identifiers.org/clinvar/18088 ^@ NM_000484.3(APP):c.2149G>A (p.Val717Ile) http://identifiers.org/clinvar/18089 ^@ NM_000484.3(APP):c.2149G>T (p.Val717Phe) http://identifiers.org/clinvar/18090 ^@ NM_000484.3(APP):c.2150T>G (p.Val717Gly) http://identifiers.org/clinvar/18091 ^@ NM_000484.3(APP):c.2075C>G (p.Ala692Gly) http://identifiers.org/clinvar/18092 ^@ APP, 2124C-T http://identifiers.org/clinvar/18093 ^@ NM_000484.3(APP):c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu) http://identifiers.org/clinvar/18094 ^@ NM_000484.3(APP):c.2137G>A (p.Ala713Thr) http://identifiers.org/clinvar/18095 ^@ NM_000484.3(APP):c.1995G>C (p.Glu665Asp) http://identifiers.org/clinvar/18096 ^@ NM_000484.3(APP):c.2146A>G (p.Ile716Val) http://identifiers.org/clinvar/18097 ^@ NM_000484.3(APP):c.2143G>A (p.Val715Met) http://identifiers.org/clinvar/18098 ^@ NM_000484.3(APP):c.2078A>G (p.Glu693Gly) http://identifiers.org/clinvar/18099 ^@ NM_000484.3(APP):c.2077G>A (p.Glu693Lys) http://identifiers.org/clinvar/18100 ^@ NM_000484.3(APP):c.2141C>T (p.Thr714Ile) http://identifiers.org/clinvar/18101 ^@ NM_000484.3(APP):c.2080G>A (p.Asp694Asn) http://identifiers.org/clinvar/18102 ^@ NM_000484.3(APP):c.2140A>G (p.Thr714Ala) http://identifiers.org/clinvar/18103 ^@ NM_000484.3(APP):c.2113C>G (p.Leu705Val) http://identifiers.org/clinvar/18104 ^@ APP, DUP http://identifiers.org/clinvar/18105 ^@ NM_000484.3(APP):c.2149G>C (p.Val717Leu) http://identifiers.org/clinvar/18106 ^@ NM_000484.3(APP):c.2018C>T (p.Ala673Val) http://identifiers.org/clinvar/18107 ^@ NM_000331.5(SAA1):c.269G>A (p.Gly90Asp) http://identifiers.org/clinvar/18108 ^@ NM_000331.5(SAA1):c.209C>T (p.Ala70Val) http://identifiers.org/clinvar/18109 ^@ NM_000666.2(ACY1):c.1104_1105dupAC (p.Pro369Hisfs) http://identifiers.org/clinvar/18110 ^@ NM_000666.2(ACY1):c.1057C>T (p.Arg353Cys) http://identifiers.org/clinvar/18111 ^@ NM_000666.2(ACY1):c.699A>C (p.Glu233Asp) http://identifiers.org/clinvar/18112 ^@ NM_000666.2(ACY1):c.360-1G>A http://identifiers.org/clinvar/18113 ^@ NM_000666.2(ACY1):c.589C>T (p.Arg197Trp) http://identifiers.org/clinvar/18114 ^@ NM_000666.2(ACY1):c.1178G>A (p.Arg393His) http://identifiers.org/clinvar/18115 ^@ NM_000341.3(SLC3A1):c.1400T>C (p.Met467Thr) http://identifiers.org/clinvar/18116 ^@ NM_000341.3(SLC3A1):c.1400T>A (p.Met467Lys) http://identifiers.org/clinvar/18117 ^@ NM_000341.3(SLC3A1):c.2033T>C (p.Leu678Pro) http://identifiers.org/clinvar/18118 ^@ NM_000341.3(SLC3A1):c.542G>A (p.Arg181Gln) http://identifiers.org/clinvar/18119 ^@ NM_000341.3(SLC3A1):c.1955C>G (p.Thr652Arg) http://identifiers.org/clinvar/18120 ^@ NM_000341.3(SLC3A1):c.1843C>A (p.Pro615Thr) http://identifiers.org/clinvar/18121 ^@ SLC3A1, EX5-9DUP http://identifiers.org/clinvar/18122 ^@ NM_000341.3(SLC3A1):c.1085G>A (p.Arg362His) http://identifiers.org/clinvar/18123 ^@ NM_000021.3(PSEN1):c.436A>C (p.Met146Leu) http://identifiers.org/clinvar/18124 ^@ NM_000021.3(PSEN1):c.488A>G (p.His163Arg) http://identifiers.org/clinvar/18125 ^@ NM_000021.3(PSEN1):c.737C>A (p.Ala246Glu) http://identifiers.org/clinvar/18126 ^@ NM_000021.3(PSEN1):c.856C>G (p.Leu286Val) http://identifiers.org/clinvar/18127 ^@ NM_000021.3(PSEN1):c.1229G>A (p.Cys410Tyr) http://identifiers.org/clinvar/18128 ^@ NM_000021.3(PSEN1):c.415A>G (p.Met139Val) http://identifiers.org/clinvar/18129 ^@ NM_000021.3(PSEN1):c.436A>G (p.Met146Val) http://identifiers.org/clinvar/18130 ^@ NM_000021.3(PSEN1):c.487C>T (p.His163Tyr) http://identifiers.org/clinvar/18131 ^@ NM_000021.3(PSEN1):c.839A>C (p.Glu280Ala) http://identifiers.org/clinvar/18132 ^@ NM_000021.3(PSEN1):c.839A>G (p.Glu280Gly) http://identifiers.org/clinvar/18133 ^@ NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser) http://identifiers.org/clinvar/18134 ^@ PSEN1, IVS8AS, G-T, -1, EX9DEL http://identifiers.org/clinvar/18135 ^@ NM_000021.3(PSEN1):c.360A>T (p.Glu120Asp) http://identifiers.org/clinvar/18136 ^@ NM_000021.3(PSEN1):c.1276G>C (p.Ala426Pro) http://identifiers.org/clinvar/18137 ^@ NM_000021.3(PSEN1):c.438G>A (p.Met146Ile) http://identifiers.org/clinvar/18138 ^@ NM_000021.3(PSEN1):c.749T>C (p.Leu250Ser) http://identifiers.org/clinvar/18139 ^@ NM_000021.3(PSEN1):c.833G>C (p.Arg278Thr) http://identifiers.org/clinvar/18140 ^@ PSEN1, IVS4DS, 1-BP DEL, G http://identifiers.org/clinvar/18141 ^@ NM_000021.3(PSEN1):c.1300_1301delGCinsTG (p.Ala434Cys) http://identifiers.org/clinvar/18142 ^@ NM_000021.3(PSEN1):c.275G>C (p.Cys92Ser) http://identifiers.org/clinvar/18143 ^@ NM_000021.3(PSEN1):c.617G>C (p.Gly206Ala) http://identifiers.org/clinvar/18144 ^@ NM_000021.3(PSEN1):c.796G>A (p.Gly266Ser) http://identifiers.org/clinvar/18145 ^@ NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro) http://identifiers.org/clinvar/18146 ^@ NM_000021.3(PSEN1):c.497T>C (p.Leu166Pro) http://identifiers.org/clinvar/18147 ^@ NM_000021.3(PSEN1):c.520C>A (p.Leu174Met) http://identifiers.org/clinvar/18148 ^@ NM_000021.3(PSEN1):c.811C>G (p.Leu271Val) http://identifiers.org/clinvar/18149 ^@ NM_000021.3(PSEN1):c.548G>T (p.Gly183Val) http://identifiers.org/clinvar/18150 ^@ NM_000021.3(PSEN1):c.1307C>A (p.Pro436Gln) http://identifiers.org/clinvar/18151 ^@ PSEN1, 6-BP INS, NT715 http://identifiers.org/clinvar/18152 ^@ NM_000021.3(PSEN1):c.833G>T (p.Arg278Ile) http://identifiers.org/clinvar/18153 ^@ NM_000021.3(PSEN1):c.254T>C (p.Leu85Pro) http://identifiers.org/clinvar/18154 ^@ PSEN1, 3-BP DEL http://identifiers.org/clinvar/18155 ^@ NM_000021.3(PSEN1):c.1292C>A (p.Ala431Glu) http://identifiers.org/clinvar/18156 ^@ NM_000021.3(PSEN1):c.998A>G (p.Asp333Gly) http://identifiers.org/clinvar/18157 ^@ NM_000021.3(PSEN1):c.236C>T (p.Ala79Val) http://identifiers.org/clinvar/18158 ^@ NM_000021.3(PSEN1):c.509C>T (p.Ser170Phe) http://identifiers.org/clinvar/18159 ^@ NM_000021.3(PSEN1):c.649G>C (p.Gly217Arg) http://identifiers.org/clinvar/18160 ^@ NM_000683.3(ADRA2C):c.964_975delGGGGCGGGGCCG (p.Gly324_Ala327del) http://identifiers.org/clinvar/18162 ^@ NM_000262.2(NAGA):c.973G>A (p.Glu325Lys) http://identifiers.org/clinvar/18163 ^@ NM_000262.2(NAGA):c.985C>T (p.Arg329Trp) http://identifiers.org/clinvar/18164 ^@ NM_000262.2(NAGA):c.577G>T (p.Glu193Ter) http://identifiers.org/clinvar/18165 ^@ NM_000262.2(NAGA):c.479C>G (p.Ser160Cys) http://identifiers.org/clinvar/18166 ^@ NM_000262.2(NAGA):c.986G>A (p.Arg329Gln) http://identifiers.org/clinvar/18167 ^@ NM_006885.3(ZFHX3):c.10142_10165del24 (p.Arg3381_Gln3388del) http://identifiers.org/clinvar/18168 ^@ NM_001134.2(AFP):c.-163G>A http://identifiers.org/clinvar/18169 ^@ NM_001134.2(AFP):c.883_884delCT (p.Leu295Valfs) http://identifiers.org/clinvar/18170 ^@ NM_001134.2(AFP):c.543G>A (p.Trp181Ter) http://identifiers.org/clinvar/18171 ^@ NM_000014.4(A2M):c.2998A>G (p.Ile1000Val) http://identifiers.org/clinvar/18172 ^@ NM_000014.4(A2M):c.2915G>A (p.Cys972Tyr) http://identifiers.org/clinvar/18173 ^@ NM_000014.4(A2M):c.2125+1_2126-1del http://identifiers.org/clinvar/18174 ^@ NM_000014.4(A2M):c.2111G>A (p.Arg704His) http://identifiers.org/clinvar/18176 ^@ NM_000014.4(A2M):c.2126-7_2126-3delACCAT http://identifiers.org/clinvar/18177 ^@ NM_000034.3(ALDOA):c.386A>G (p.Asp129Gly) http://identifiers.org/clinvar/18178 ^@ NM_000034.3(ALDOA):c.619G>A (p.Glu207Lys) http://identifiers.org/clinvar/18179 ^@ NM_000669.4(ADH1C):c.815G>A (p.Arg272Gln) http://identifiers.org/clinvar/18180 ^@ NM_000669.4(ADH1C):c.1048A>G (p.Ile350Val) http://identifiers.org/clinvar/18181 ^@ NM_000669.4(ADH1C):c.232G>T (p.Gly78Ter) http://identifiers.org/clinvar/18182 ^@ NM_000668.5(ADH1B):c.143A= (p.His48=) http://identifiers.org/clinvar/18183 ^@ NM_000668.5(ADH1B):c.1108C>T (p.Arg370Cys) http://identifiers.org/clinvar/18184 ^@ NM_000477.6(ALB):c.68G>A (p.Arg23His) http://identifiers.org/clinvar/18185 ^@ NM_000477.5(ALB):c.71G>A (p.Arg24Gln) http://identifiers.org/clinvar/18186 ^@ NM_000477.5(ALB):c.71G>C (p.Arg24Pro) http://identifiers.org/clinvar/18187 ^@ NM_000477.6(ALB):c.74A>T (p.Asp25Val) http://identifiers.org/clinvar/18188 ^@ NM_000477.5(ALB):c.81C>R (p.His27Gln) http://identifiers.org/clinvar/18189 ^@ NM_000477.6(ALB):c.412C>G (p.Arg138Gly) http://identifiers.org/clinvar/18190 ^@ NM_000477.6(ALB):c.427G>A (p.Glu143Lys) http://identifiers.org/clinvar/18191 ^@ NM_000477.6(ALB):c.878A>G (p.Asp293Gly) http://identifiers.org/clinvar/18192 ^@ NM_000477.6(ALB):c.1011G>T (p.Lys337Asn) http://identifiers.org/clinvar/18193 ^@ NM_000477.6(ALB):c.1030G>A (p.Ala344Thr) http://identifiers.org/clinvar/18194 ^@ NM_000477.6(ALB):c.1033G>A (p.Glu345Lys) http://identifiers.org/clinvar/18195 ^@ NM_000477.6(ALB):c.1132G>A (p.Glu378Lys) http://identifiers.org/clinvar/18196 ^@ NM_000477.6(ALB):c.1144G>A (p.Glu382Lys) http://identifiers.org/clinvar/18197 ^@ NM_000477.6(ALB):c.1165G>C (p.Asp389His) http://identifiers.org/clinvar/18198 ^@ NM_000477.6(ALB):c.1186A>G (p.Lys396Glu) http://identifiers.org/clinvar/18199 ^@ NM_000477.6(ALB):c.1195G>A (p.Asp399Asn) http://identifiers.org/clinvar/18200 ^@ NM_000477.6(ALB):c.1198G>A (p.Glu400Lys) http://identifiers.org/clinvar/18201 ^@ NM_000477.6(ALB):c.1216G>A (p.Glu406Lys) http://identifiers.org/clinvar/18202 ^@ NM_000477.6(ALB):c.1573G>A (p.Glu525Lys) http://identifiers.org/clinvar/18203 ^@ NM_000477.6(ALB):c.1693A>G (p.Lys565Glu) http://identifiers.org/clinvar/18204 ^@ NM_000477.6(ALB):c.1721A>G (p.Asp574Gly) http://identifiers.org/clinvar/18205 ^@ NM_000477.6(ALB):c.1759G>A (p.Asp587Asn) http://identifiers.org/clinvar/18206 ^@ NM_000477.6(ALB):c.1765G>A (p.Glu589Lys) http://identifiers.org/clinvar/18207 ^@ NM_000477.6(ALB):c.1780G>A (p.Glu594Lys) http://identifiers.org/clinvar/18208 ^@ NM_000477.6(ALB):c.1789A>G (p.Lys597Glu) http://identifiers.org/clinvar/18209 ^@ NM_000477.5(ALB):c.1794A>Y (p.Lys598Asn) http://identifiers.org/clinvar/18210 ^@ NM_000477.6(ALB):c.714-2A>G http://identifiers.org/clinvar/18211 ^@ ALB, EX14DEL http://identifiers.org/clinvar/18212 ^@ NM_000477.6(ALB):c.1678A>G (p.Lys560Glu) http://identifiers.org/clinvar/18213 ^@ NM_000477.5(ALB):c.67C>T (p.Arg23Cys) http://identifiers.org/clinvar/18214 ^@ NM_000477.5(ALB):c.71G>T (p.Arg24Leu) http://identifiers.org/clinvar/18215 ^@ NM_000477.6(ALB):c.602G>T (p.Cys201Phe) http://identifiers.org/clinvar/18216 ^@ NM_000477.6(ALB):c.1810delC (p.Gln604Lysfs) http://identifiers.org/clinvar/18217 ^@ NM_000477.6(ALB):c.250G>A (p.Glu84Lys) http://identifiers.org/clinvar/18218 ^@ NM_000477.6(ALB):c.316G>A (p.Glu106Lys) http://identifiers.org/clinvar/18219 ^@ NM_000477.6(ALB):c.1552G>A (p.Asp518Asn) http://identifiers.org/clinvar/18220 ^@ NM_000477.6(ALB):c.1166A>T (p.Asp389Val) http://identifiers.org/clinvar/18221 ^@ NM_000477.6(ALB):c.455A>G (p.His152Arg) http://identifiers.org/clinvar/18222 ^@ NM_000477.6(ALB):c.1785+1G>C http://identifiers.org/clinvar/18223 ^@ NM_000477.6(ALB):c.790A>G (p.Lys264Glu) http://identifiers.org/clinvar/18224 ^@ NM_000477.5(ALB):c.872dupA (p.Asn291Lysfs) http://identifiers.org/clinvar/18225 ^@ NM_000477.6(ALB):c.725G>A (p.Arg242His) http://identifiers.org/clinvar/18226 ^@ NM_000477.6(ALB):c.79C>T (p.His27Tyr) http://identifiers.org/clinvar/18227 ^@ NM_000477.6(ALB):c.745A>C (p.Lys249Gln) http://identifiers.org/clinvar/18228 ^@ NM_000477.6(ALB):c.900G>C (p.Lys300Asn) http://identifiers.org/clinvar/18229 ^@ NM_000477.6(ALB):c.1771delT (p.Cys591Alafs) http://identifiers.org/clinvar/18230 ^@ NM_000477.6(ALB):c.491A>G (p.Tyr164Cys) http://identifiers.org/clinvar/18231 ^@ NM_000477.6(ALB):c.259G>A (p.Asp87Asn) http://identifiers.org/clinvar/18232 ^@ NM_000477.6(ALB):c.875A>G (p.Gln292Arg) http://identifiers.org/clinvar/18233 ^@ NM_000477.6(ALB):c.1026C>G (p.Asn342Lys) http://identifiers.org/clinvar/18234 ^@ NM_000477.6(ALB):c.1069G>A (p.Glu357Lys) http://identifiers.org/clinvar/18235 ^@ NM_000477.6(ALB):c.1198G>C (p.Glu400Gln) http://identifiers.org/clinvar/18236 ^@ NM_000477.6(ALB):c.1507G>A (p.Glu503Lys) http://identifiers.org/clinvar/18237 ^@ NM_000477.6(ALB):c.1585G>A (p.Glu529Lys) http://identifiers.org/clinvar/18238 ^@ NM_000477.6(ALB):c.725G>C (p.Arg242Pro) http://identifiers.org/clinvar/18239 ^@ NM_000477.6(ALB):c.269T>C (p.Leu90Pro) http://identifiers.org/clinvar/18240 ^@ NM_000477.6(ALB):c.79+1G>A http://identifiers.org/clinvar/18241 ^@ NM_198576.3(AGRN):c.5125G>C (p.Gly1709Arg) http://identifiers.org/clinvar/18242 ^@ H19, 1.8-KB DEL http://identifiers.org/clinvar/18243 ^@ H19, 5.3-KB DEL http://identifiers.org/clinvar/18244 ^@ H19, 1.43-KB TRIPLICATION http://identifiers.org/clinvar/18245 ^@ NM_001151.3(SLC25A4):c.340G>C (p.Ala114Pro) http://identifiers.org/clinvar/18246 ^@ NM_001151.3(SLC25A4):c.865G>A (p.Val289Met) http://identifiers.org/clinvar/18247 ^@ NM_001151.3(SLC25A4):c.293T>C (p.Leu98Pro) http://identifiers.org/clinvar/18248 ^@ NM_001151.3(SLC25A4):c.311A>G (p.Asp104Gly) http://identifiers.org/clinvar/18249 ^@ NM_001151.3(SLC25A4):c.368C>A (p.Ala123Asp) http://identifiers.org/clinvar/18250 ^@ AK2, 5,038-BP DEL http://identifiers.org/clinvar/18251 ^@ NM_013411.4(AK2):c.118delT (p.Cys40Valfs) http://identifiers.org/clinvar/18252 ^@ NM_013411.4(AK2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/18253 ^@ AK2, 331, G-A, -1 http://identifiers.org/clinvar/18254 ^@ AK2, 1-BP DEL, 453C http://identifiers.org/clinvar/18255 ^@ AK2, 498, G-A, +1 http://identifiers.org/clinvar/18256 ^@ NM_013411.4(AK2):c.494A>G (p.Asp165Gly) http://identifiers.org/clinvar/18257 ^@ NM_013411.4(AK2):c.548T>A (p.Leu183Ter) http://identifiers.org/clinvar/18258 ^@ NM_013411.4(AK2):c.556C>T (p.Arg186Cys) http://identifiers.org/clinvar/18259 ^@ AK2, EX2 DEL http://identifiers.org/clinvar/18260 ^@ NM_013411.4(AK2):c.307C>T (p.Arg103Trp) http://identifiers.org/clinvar/18261 ^@ NM_001625.3(AK2):c.697A>T (p.Lys233Ter) http://identifiers.org/clinvar/18262 ^@ NM_013411.4(AK2):c.25G>T (p.Glu9Ter) http://identifiers.org/clinvar/18263 ^@ NM_000476.2(AK1):c.382C>T (p.Arg128Trp) http://identifiers.org/clinvar/18264 ^@ NM_000476.2(AK1):c.319C>T (p.Arg107Ter) http://identifiers.org/clinvar/18265 ^@ NM_000476.2(AK1):c.491A>G (p.Tyr164Cys) http://identifiers.org/clinvar/18266 ^@ NM_000476.2(AK1):c.118G>A (p.Gly40Arg) http://identifiers.org/clinvar/18267 ^@ NM_000476.2(AK1):c.190G>A (p.Gly64Arg) http://identifiers.org/clinvar/18268 ^@ NM_000476.2(AK1):c.421_423delGAC (p.Asp141del) http://identifiers.org/clinvar/18269 ^@ NM_000476.2(AK1):c.139delG (p.Val47Serfs) http://identifiers.org/clinvar/18270 ^@ NM_001025389.1(AMPD3):c.1717C>T (p.Arg573Cys) http://identifiers.org/clinvar/18271 ^@ NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/18272 ^@ NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) http://identifiers.org/clinvar/18273 ^@ NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) http://identifiers.org/clinvar/18274 ^@ NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp) http://identifiers.org/clinvar/18275 ^@ NM_001101.3(ACTB):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/18276 ^@ NM_001613.2(ACTA2):c.445C>T (p.Arg149Cys) http://identifiers.org/clinvar/18277 ^@ NM_001613.2(ACTA2):c.773G>A (p.Arg258His) http://identifiers.org/clinvar/18278 ^@ NM_001613.2(ACTA2):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/18279 ^@ NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro) http://identifiers.org/clinvar/18280 ^@ NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser) http://identifiers.org/clinvar/18281 ^@ NM_001100.3(ACTA1):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/18282 ^@ NM_001100.3(ACTA1):c.493G>T (p.Val165Leu) http://identifiers.org/clinvar/18283 ^@ NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) http://identifiers.org/clinvar/18284 ^@ NM_001100.3(ACTA1):c.1075A>C (p.Ile359Leu) http://identifiers.org/clinvar/18285 ^@ NM_001100.3(ACTA1):c.808G>T (p.Gly270Cys) http://identifiers.org/clinvar/18286 ^@ NM_001100.3(ACTA1):c.414C>G (p.Ile138Met) http://identifiers.org/clinvar/18287 ^@ NM_001100.3(ACTA1):c.7G>T (p.Asp3Tyr) http://identifiers.org/clinvar/18288 ^@ NM_001100.3(ACTA1):c.1007A>C (p.Glu336Ala) http://identifiers.org/clinvar/18289 ^@ NM_001100.3(ACTA1):c.881A>T (p.Asp294Val) http://identifiers.org/clinvar/18290 ^@ NM_001100.3(ACTA1):c.668T>C (p.Leu223Pro) http://identifiers.org/clinvar/18291 ^@ NM_001100.3(ACTA1):c.1000C>T (p.Pro334Ser) http://identifiers.org/clinvar/18292 ^@ NM_001100.3(ACTA1):c.493G>A (p.Val165Met) http://identifiers.org/clinvar/242762 ^@ NM_001100.3(ACTA1):c.222G>T (p.Glu74Asp) http://identifiers.org/clinvar/18294 ^@ NM_000485.2(APRT):c.517_519delTTC (p.Phe174del) http://identifiers.org/clinvar/18295 ^@ NM_000485.2(APRT):c.321+2dupT http://identifiers.org/clinvar/18296 ^@ NM_000485.2(APRT):c.407T>C (p.Met136Thr) http://identifiers.org/clinvar/18297 ^@ NM_000485.2(APRT):c.194A>T (p.Asp65Val) http://identifiers.org/clinvar/18298 ^@ NM_000485.2(APRT):c.294G>A (p.Trp98Ter) http://identifiers.org/clinvar/18299 ^@ NM_000485.2(APRT):c.258_261dupCCGA (p.Lys88Profs) http://identifiers.org/clinvar/18300 ^@ NM_000485.2(APRT):c.329T>C (p.Leu110Pro) http://identifiers.org/clinvar/18301 ^@ APRT, 254-BP DEL AND 8-BP INS http://identifiers.org/clinvar/18302 ^@ NM_000485.2(APRT):c.542G>C (p.Ter181Ser) http://identifiers.org/clinvar/18303 ^@ NM_139276.2(STAT3):c.1387_1389delGTG (p.Val463del) http://identifiers.org/clinvar/18304 ^@ NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp) http://identifiers.org/clinvar/18305 ^@ NM_139276.2(STAT3):c.1145G>A (p.Arg382Gln) http://identifiers.org/clinvar/18306 ^@ NM_139276.2(STAT3):c.1268G>A (p.Arg423Gln) http://identifiers.org/clinvar/18307 ^@ STAT3, ARG383LEU http://identifiers.org/clinvar/18308 ^@ NM_139276.2(STAT3):c.1909G>A (p.Val637Met) http://identifiers.org/clinvar/18309 ^@ NM_001105.4(ACVR1):c.617G>A (p.Arg206His) http://identifiers.org/clinvar/18310 ^@ NM_001105.4(ACVR1):c.1067G>A (p.Gly356Asp) http://identifiers.org/clinvar/18311 ^@ NM_001105.4(ACVR1):c.774G>C (p.Arg258Ser) http://identifiers.org/clinvar/18312 ^@ NM_001104.3(ACTN3):c.1729C>T (p.Arg577Ter) http://identifiers.org/clinvar/18313 ^@ NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) http://identifiers.org/clinvar/18314 ^@ NM_001458.4(FLNC):c.8130G>A (p.Trp2710Ter) http://identifiers.org/clinvar/18315 ^@ NM_001614.3(ACTG1):c.266C>T (p.Thr89Ile) http://identifiers.org/clinvar/18316 ^@ NM_001614.3(ACTG1):c.353A>T (p.Lys118Met) http://identifiers.org/clinvar/18317 ^@ NM_001614.3(ACTG1):c.994C>G (p.Pro332Ala) http://identifiers.org/clinvar/18318 ^@ NM_001614.3(ACTG1):c.791C>T (p.Pro264Leu) http://identifiers.org/clinvar/18319 ^@ NM_001614.3(ACTG1):c.833C>T (p.Thr278Ile) http://identifiers.org/clinvar/18320 ^@ NM_001614.3(ACTG1):c.1109T>C (p.Val370Ala) http://identifiers.org/clinvar/18321 ^@ NM_001614.3(ACTG1):c.354G>C (p.Lys118Asn) http://identifiers.org/clinvar/18322 ^@ NM_001614.3(ACTG1):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/18323 ^@ NM_005159.4(ACTC1):c.941G>A (p.Arg314His) http://identifiers.org/clinvar/18324 ^@ NM_005159.4(ACTC1):c.1088A>G (p.Glu363Gly) http://identifiers.org/clinvar/18325 ^@ NM_005159.4(ACTC1):c.889G>T (p.Ala297Ser) http://identifiers.org/clinvar/18326 ^@ NM_005159.4(ACTC1):c.268C>T (p.His90Tyr) http://identifiers.org/clinvar/18327 ^@ NM_005159.4(ACTC1):c.373A>G (p.Met125Val) http://identifiers.org/clinvar/18328 ^@ NM_005159.4(ACTC1):c.214_230del17 (p.Pro72Hisfs) http://identifiers.org/clinvar/18329 ^@ NM_005159.4(ACTC1):c.997G>C (p.Ala333Pro) http://identifiers.org/clinvar/18330 ^@ NM_005159.4(ACTC1):c.496C>G (p.Pro166Ala) http://identifiers.org/clinvar/18331 ^@ NM_005159.4(ACTC1):c.301G>A (p.Glu101Lys) http://identifiers.org/clinvar/18332 ^@ NM_004316.3(ASCL1):c.52C>A (p.Pro18Thr) http://identifiers.org/clinvar/18333 ^@ ASCL1, 15-BP DEL, NT111 http://identifiers.org/clinvar/18334 ^@ ASCL1, 24-BP DEL, NT108 http://identifiers.org/clinvar/18335 ^@ NM_015831.2(ACHE):c.1057C>A (p.His353Asn) http://identifiers.org/clinvar/18336 ^@ NM_005199.4(CHRNG):c.13C>T (p.Gln5Ter) http://identifiers.org/clinvar/18337 ^@ NM_005199.4(CHRNG):c.715C>T (p.Arg239Cys) http://identifiers.org/clinvar/18338 ^@ NM_005199.4(CHRNG):c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro) http://identifiers.org/clinvar/18339 ^@ NM_005199.4(CHRNG):c.1408C>T (p.Arg470Ter) http://identifiers.org/clinvar/18340 ^@ NM_005199.4(CHRNG):c.320T>G (p.Val107Gly) http://identifiers.org/clinvar/18341 ^@ NM_005199.4(CHRNG):c.136C>T (p.Arg46Ter) http://identifiers.org/clinvar/18342 ^@ NM_005199.4(CHRNG):c.753_754delCT (p.Val253Alafs) http://identifiers.org/clinvar/18343 ^@ NM_000080.3(CHRNE):c.850A>C (p.Thr284Pro) http://identifiers.org/clinvar/18344 ^@ NM_000080.3(CHRNE):c.865C>T (p.Leu289Phe) http://identifiers.org/clinvar/18345 ^@ NM_000080.3(CHRNE):c.500G>T (p.Arg167Leu) http://identifiers.org/clinvar/18346 ^@ NM_000080.3(CHRNE):c.422C>T (p.Pro141Leu) http://identifiers.org/clinvar/18347 ^@ NM_000080.3(CHRNE):c.250C>T (p.Arg84Ter) http://identifiers.org/clinvar/18348 ^@ NM_000080.3(CHRNE):c.971delT (p.Ile324Thrfs) http://identifiers.org/clinvar/18349 ^@ NM_000080.3(CHRNE):c.344+1G>A http://identifiers.org/clinvar/18350 ^@ NM_000080.3(CHRNE):c.1030delC (p.His344Thrfs) http://identifiers.org/clinvar/18352 ^@ NM_000080.3(CHRNE):c.721C>T (p.Leu241Phe) http://identifiers.org/clinvar/18353 ^@ NM_000080.3(CHRNE):c.-96C>T http://identifiers.org/clinvar/18355 ^@ NM_000080.3(CHRNE):c.1161_1162insT (p.Lys388Terfs) http://identifiers.org/clinvar/18357 ^@ NM_000080.3(CHRNE):c.614_620delGGGCCAT (p.Trp205Serfs) http://identifiers.org/clinvar/18358 ^@ NM_000080.3(CHRNE):c.991C>T (p.Arg331Trp) http://identifiers.org/clinvar/18359 ^@ NM_000080.3(CHRNE):c.37G>A (p.Gly13Arg) http://identifiers.org/clinvar/18360 ^@ NM_000080.3(CHRNE):c.488C>T (p.Ser163Leu) http://identifiers.org/clinvar/18361 ^@ NM_000080.3(CHRNE):c.1291G>C (p.Ala431Pro) http://identifiers.org/clinvar/18362 ^@ NM_000080.3(CHRNE):c.501-16G>A http://identifiers.org/clinvar/18363 ^@ NM_000751.2(CHRND):c.866C>T (p.Ser289Phe) http://identifiers.org/clinvar/18364 ^@ NM_000751.2(CHRND):c.812C>A (p.Pro271Gln) http://identifiers.org/clinvar/18365 ^@ NM_000751.2(CHRND):c.236T>A (p.Ile79Lys) http://identifiers.org/clinvar/18366 ^@ NM_000751.2(CHRND):c.238G>A (p.Glu80Lys) http://identifiers.org/clinvar/18367 ^@ NM_000751.2(CHRND):c.820_820+1del http://identifiers.org/clinvar/18368 ^@ NM_000751.2(CHRND):c.234G>A (p.Trp78Ter) http://identifiers.org/clinvar/18369 ^@ NM_000751.2(CHRND):c.283T>C (p.Phe95Leu) http://identifiers.org/clinvar/18370 ^@ NM_000751.2(CHRND):c.1390C>T (p.Arg464Ter) http://identifiers.org/clinvar/18371 ^@ NM_000751.2(CHRND):c.188T>C (p.Leu63Pro) http://identifiers.org/clinvar/18372 ^@ NM_000747.2(CHRNB1):c.865G>A (p.Val289Met) http://identifiers.org/clinvar/18373 ^@ NM_000747.2(CHRNB1):c.853C>A (p.Leu285Met) http://identifiers.org/clinvar/18374 ^@ CHRNB1, 9-BP DEL, NT1276 http://identifiers.org/clinvar/18375 ^@ CHRNB1, EX8DEL http://identifiers.org/clinvar/18376 ^@ NM_001039523.2(CHRNA1):c.786C>G (p.Asn262Lys) http://identifiers.org/clinvar/18377 ^@ NM_001039523.2(CHRNA1):c.601G>A (p.Val201Met) http://identifiers.org/clinvar/18378 ^@ NM_001039523.2(CHRNA1):c.896C>T (p.Thr299Ile) http://identifiers.org/clinvar/18379 ^@ NM_001039523.2(CHRNA1):c.592G>A (p.Gly198Ser) http://identifiers.org/clinvar/18380 ^@ NM_001039523.2(CHRNA1):c.941G>T (p.Ser314Ile) http://identifiers.org/clinvar/18381 ^@ NM_001039523.2(CHRNA1):c.880G>T (p.Val294Phe) http://identifiers.org/clinvar/18382 ^@ NM_001039523.2(CHRNA1):c.988G>A (p.Val330Ile) http://identifiers.org/clinvar/18383 ^@ NM_001039523.2(CHRNA1):c.832T>G (p.Phe278Val) http://identifiers.org/clinvar/18384 ^@ NM_001039523.2(CHRNA1):c.901T>C (p.Phe301Leu) http://identifiers.org/clinvar/18385 ^@ NM_001039523.2(CHRNA1):c.529G>C (p.Val177Leu) http://identifiers.org/clinvar/18386 ^@ CHRNA1, 1-BP DEL, 381C http://identifiers.org/clinvar/18387 ^@ NM_001039523.2(CHRNA1):c.1389C>G (p.Cys463Trp) http://identifiers.org/clinvar/18388 ^@ NM_001039523.2(CHRNA1):c.761G>T (p.Arg254Leu) http://identifiers.org/clinvar/18389 ^@ CHRNA1, 17-BP DUP, NT117 http://identifiers.org/clinvar/18390 ^@ NM_000690.3(ALDH2):c.1510G>A (p.Glu504Lys) http://identifiers.org/clinvar/18391 ^@ NM_018109.3(MTPAP):c.1432A>G (p.Asn478Asp) http://identifiers.org/clinvar/18392 ^@ NM_018013.3(SOBP):c.1981C>T (p.Arg661Ter) http://identifiers.org/clinvar/18393 ^@ NM_001004127.2(ALG11):c.257T>C (p.Leu86Ser) http://identifiers.org/clinvar/18395 ^@ NM_002036.3(ACKR1):c.-67T>C http://identifiers.org/clinvar/18396 ^@ NM_002036.3(ACKR1):c.265C>T (p.Arg89Cys) http://identifiers.org/clinvar/18397 ^@ NM_002036.3(ACKR1):c.286_299delTGGCCTGTCCTGGC (p.Trp96Thrfs) http://identifiers.org/clinvar/18398 ^@ NM_181840.1(KCNK18):c.414_415delCT (p.Phe139Trpfs) http://identifiers.org/clinvar/18399 ^@ NM_024598.3(USB1):c.179delC (p.Pro60Leufs) http://identifiers.org/clinvar/18400 ^@ NM_016955.3(SEPSECS):c.1001A>G (p.Tyr334Cys) http://identifiers.org/clinvar/18401 ^@ NM_016955.3(SEPSECS):c.715G>A (p.Ala239Thr) http://identifiers.org/clinvar/18402 ^@ NM_001999.3(FBN2):c.3777T>A (p.Asn1259Lys) http://identifiers.org/clinvar/18403 ^@ NM_000512.4(GALNS):c.1019G>A (p.Gly340Asp) http://identifiers.org/clinvar/18404 ^@ NM_024592.4(SRD5A3):c.286_288delCAAinsTGAGTAAGGC (p.Gln96Terfs) http://identifiers.org/clinvar/18405 ^@ NM_024592.4(SRD5A3):c.320G>A (p.Trp107Ter) http://identifiers.org/clinvar/18406 ^@ NM_024592.4(SRD5A3):c.424C>T (p.Arg142Ter) http://identifiers.org/clinvar/18407 ^@ NM_024592.4(SRD5A3):c.489C>A (p.Tyr163Ter) http://identifiers.org/clinvar/18408 ^@ NM_024592.4(SRD5A3):c.29C>A (p.Ser10Ter) http://identifiers.org/clinvar/18409 ^@ NM_003849.3(SUCLG1):c.254G>C (p.Gly85Ala) http://identifiers.org/clinvar/18410 ^@ NM_003849.3(SUCLG1):c.509C>G (p.Pro170Arg) http://identifiers.org/clinvar/18411 ^@ NM_003849.3(SUCLG1):c.97+3G>C http://identifiers.org/clinvar/18412 ^@ NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter) http://identifiers.org/clinvar/18413 ^@ NM_022454.3(SOX17):c.775T>A (p.Tyr259Asn) http://identifiers.org/clinvar/18414 ^@ NM_022454.3(SOX17):c.532G>T (p.Gly178Cys) http://identifiers.org/clinvar/18415 ^@ SOX17, 6-BP INS, NT51 http://identifiers.org/clinvar/18416 ^@ CDHR1, 1-BP INS, 524A http://identifiers.org/clinvar/18417 ^@ NM_018451.4(CENPJ):c.3302-1G>C http://identifiers.org/clinvar/18418 ^@ NM_014053.3(FLVCR1):c.361A>G (p.Asn121Asp) http://identifiers.org/clinvar/18419 ^@ NM_014053.3(FLVCR1):c.721G>A (p.Ala241Thr) http://identifiers.org/clinvar/18420 ^@ NM_014053.3(FLVCR1):c.574T>C (p.Cys192Arg) http://identifiers.org/clinvar/18421 ^@ CHST14, 20-BP DUP, NT981 http://identifiers.org/clinvar/18422 ^@ NM_016341.3(PLCE1):c.6448C>T (p.Arg2150Ter) http://identifiers.org/clinvar/18423 ^@ NM_016341.3(PLCE1):c.961C>T (p.Arg321Ter) http://identifiers.org/clinvar/18424 ^@ NM_016341.3(PLCE1):c.3736C>T (p.Arg1246Ter) http://identifiers.org/clinvar/18425 ^@ NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) http://identifiers.org/clinvar/18426 ^@ RAB23, 1-BP DUP, 86A http://identifiers.org/clinvar/18427 ^@ NC_000003.10:g.(71109689_?)_(?_71508061)del http://identifiers.org/clinvar/18428 ^@ NM_032682.5(FOXP1):c.1573C>T (p.Arg525Ter) http://identifiers.org/clinvar/18429 ^@ NM_033056.3(PCDH15):c.1583T>A (p.Val528Asp) http://identifiers.org/clinvar/18430 ^@ NM_021625.4(TRPV4):c.2395C>G (p.Pro799Ala) http://identifiers.org/clinvar/18431 ^@ NM_021625.4(TRPV4):c.2395C>T (p.Pro799Ser) http://identifiers.org/clinvar/18432 ^@ NM_021625.4(TRPV4):c.2396C>G (p.Pro799Arg) http://identifiers.org/clinvar/18433 ^@ TRPV4, 3-BP DEL, 1411TTC http://identifiers.org/clinvar/18434 ^@ NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) http://identifiers.org/clinvar/18435 ^@ NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) http://identifiers.org/clinvar/18436 ^@ TRPV4, 17-BP DEL, NT2396 http://identifiers.org/clinvar/18437 ^@ NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys) http://identifiers.org/clinvar/18438 ^@ NM_000113.2(TOR1A):c.613T>A (p.Phe205Ile) http://identifiers.org/clinvar/18439 ^@ NM_014495.3(ANGPTL3):c.50_51delCCinsGA (p.Ser17Ter) http://identifiers.org/clinvar/18440 ^@ NM_014495.3(ANGPTL3):c.385G>T (p.Glu129Ter) http://identifiers.org/clinvar/18441 ^@ NM_004268.4(MED17):c.1112T>C (p.Leu371Pro) http://identifiers.org/clinvar/18442 ^@ NM_001218.4(CA12):c.427G>A (p.Glu143Lys) http://identifiers.org/clinvar/18443 ^@ NM_003494.3(DYSF):c.5429G>A (p.Arg1810Lys) http://identifiers.org/clinvar/18444 ^@ NM_033343.3(LHX4):c.293dupC (p.Thr99Asnfs) http://identifiers.org/clinvar/18445 ^@ NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter) http://identifiers.org/clinvar/18446 ^@ NM_000076.2(CDKN1C):c.845C>A (p.Ser282Ter) http://identifiers.org/clinvar/18447 ^@ NM_006563.4(KLF1):c.973G>A (p.Glu325Lys) http://identifiers.org/clinvar/18449 ^@ NM_001287174.1(ABCC8):c.2147G>T (p.Gly716Val) http://identifiers.org/clinvar/18450 ^@ NM_003159.2(CDKL5):c.533G>C (p.Arg178Pro) http://identifiers.org/clinvar/18451 ^@ CLCN5, IVS8DS, G-T, +1 http://identifiers.org/clinvar/18452 ^@ NM_000500.7(CYP21A2):c.361A>C (p.Lys121Gln) http://identifiers.org/clinvar/18453 ^@ NM_004360.4(CDH1):c.1008G>T (p.Glu336Asp) http://identifiers.org/clinvar/18454 ^@ NM_003000.2(SDHB):c.418G>T (p.Val140Phe) http://identifiers.org/clinvar/18455 ^@ SDHB, 15.69-KB DEL, EX1 http://identifiers.org/clinvar/18456 ^@ SDHB, 20.3-KB DEL, EX1 http://identifiers.org/clinvar/18457 ^@ NM_170707.3(LMNA):c.176T>G (p.Leu59Arg) http://identifiers.org/clinvar/18458 ^@ NM_024411.4(PDYN):c.414G>T (p.Arg138Ser) http://identifiers.org/clinvar/18459 ^@ NM_024411.4(PDYN):c.643C>T (p.Arg215Cys) http://identifiers.org/clinvar/18460 ^@ NM_024411.4(PDYN):c.632T>C (p.Leu211Ser) http://identifiers.org/clinvar/18461 ^@ NM_024411.4(PDYN):c.634C>T (p.Arg212Trp) http://identifiers.org/clinvar/18462 ^@ NM_001845.5(COL4A1):c.1492G>C (p.Gly498Arg) http://identifiers.org/clinvar/18463 ^@ NM_001845.5(COL4A1):c.1528G>A (p.Gly510Arg) http://identifiers.org/clinvar/18464 ^@ NM_001845.5(COL4A1):c.1573_1574delGGinsTT (p.Gly525Leu) http://identifiers.org/clinvar/18465 ^@ NM_001042425.1(TFAP2A):c.874G>A (p.Glu292Lys) http://identifiers.org/clinvar/18466 ^@ NM_001042425.1(TFAP2A):c.698G>A (p.Arg233Gln) http://identifiers.org/clinvar/18467 ^@ FLNC, 12-BP DEL, NT2997 http://identifiers.org/clinvar/242761 ^@ NM_000500.7(CYP21A2):c.710T>A (p.Ile237Asn) http://identifiers.org/clinvar/35480 ^@ NM_000228.2(LAMB3):c.727C>T (p.Gln243Ter) http://identifiers.org/clinvar/7224 ^@ NM_000492.3(CFTR):c.2988+1G>A http://identifiers.org/clinvar/21008 ^@ NM_004750.4(CRLF1):c.857_864delTGGTGGAC (p.Val286Glyfs) http://identifiers.org/clinvar/21009 ^@ 15q13.3 http://identifiers.org/clinvar/21010 ^@ NM_032383.4(HPS3):c.2888-1612G>A http://identifiers.org/clinvar/21011 ^@ NR_104387.1(TAF1):n.5894C>T http://identifiers.org/clinvar/21012 ^@ NM_000018.3(ACADVL):c.1038G>A (p.Ala346=) http://identifiers.org/clinvar/21013 ^@ NM_000018.3(ACADVL):c.1226C>T (p.Thr409Met) http://identifiers.org/clinvar/21014 ^@ NM_000018.3(ACADVL):c.1284G>A (p.Lys428=) http://identifiers.org/clinvar/21015 ^@ NM_000018.3(ACADVL):c.128G>A (p.Gly43Asp) http://identifiers.org/clinvar/21016 ^@ NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp) http://identifiers.org/clinvar/21017 ^@ NM_000018.3(ACADVL):c.1405C>T (p.Arg469Trp) http://identifiers.org/clinvar/21018 ^@ NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) http://identifiers.org/clinvar/21019 ^@ NM_000018.3(ACADVL):c.1679-6G>A http://identifiers.org/clinvar/21021 ^@ NM_000018.3(ACADVL):c.1965C>T (p.Phe655=) http://identifiers.org/clinvar/21022 ^@ NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe) http://identifiers.org/clinvar/21023 ^@ NM_000018.3(ACADVL):c.68G>A (p.Arg23Gln) http://identifiers.org/clinvar/21024 ^@ NM_000018.3(ACADVL):c.779C>T (p.Thr260Met) http://identifiers.org/clinvar/21025 ^@ NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) http://identifiers.org/clinvar/21026 ^@ NM_000021.3(PSEN1):c.1175T>C (p.Leu392Pro) http://identifiers.org/clinvar/21027 ^@ NM_000021.3(PSEN1):c.265G>T (p.Val89Leu) http://identifiers.org/clinvar/21028 ^@ NM_000021.3(PSEN1):c.697A>G (p.Met233Val) http://identifiers.org/clinvar/21029 ^@ NM_000021.3(PSEN1):c.767A>C (p.Tyr256Ser) http://identifiers.org/clinvar/21030 ^@ NM_000038.5(APC):c.5465T>A (p.Val1822Asp) http://identifiers.org/clinvar/21031 ^@ NM_000047.2(ARSE):c.119T>G (p.Ile40Ser) http://identifiers.org/clinvar/21032 ^@ NM_000047.2(ARSE):c.1442C>T (p.Thr481Met) http://identifiers.org/clinvar/21033 ^@ NM_000047.2(ARSE):c.410G>C (p.Gly137Ala) http://identifiers.org/clinvar/21034 ^@ NM_000069.2(CACNA1S):c.1582C>G (p.Arg528Gly) http://identifiers.org/clinvar/21035 ^@ NM_000069.2(CACNA1S):c.3256C>T (p.Arg1086Cys) http://identifiers.org/clinvar/21036 ^@ NM_000070.2(CAPN3):c.946-1G>A http://identifiers.org/clinvar/21037 ^@ NM_000083.2(CLCN1):c.1013G>A (p.Arg338Gln) http://identifiers.org/clinvar/21038 ^@ NM_000083.2(CLCN1):c.1412C>T (p.Ser471Phe) http://identifiers.org/clinvar/21039 ^@ NM_000083.2(CLCN1):c.1438C>A (p.Pro480Thr) http://identifiers.org/clinvar/21040 ^@ NM_000083.2(CLCN1):c.1592C>T (p.Ala531Val) http://identifiers.org/clinvar/21041 ^@ NM_000083.2(CLCN1):c.1667T>A (p.Ile556Asn) http://identifiers.org/clinvar/21042 ^@ NM_000083.2(CLCN1):c.2330delG (p.Gly777Alafs) http://identifiers.org/clinvar/21043 ^@ NM_000083.2(CLCN1):c.2512_2513insCTCA (p.His838Profs) http://identifiers.org/clinvar/21044 ^@ NM_000083.2(CLCN1):c.394A>T (p.Ser132Cys) http://identifiers.org/clinvar/21045 ^@ NM_000083.2(CLCN1):c.577G>A (p.Glu193Lys) http://identifiers.org/clinvar/21046 ^@ NM_000083.2(CLCN1):c.592C>G (p.Leu198Val) http://identifiers.org/clinvar/21047 ^@ NM_000083.2(CLCN1):c.803C>T (p.Thr268Met) http://identifiers.org/clinvar/21048 ^@ NM_000083.2(CLCN1):c.847C>T (p.Leu283Phe) http://identifiers.org/clinvar/21049 ^@ NM_000083.2(CLCN1):c.857T>C (p.Val286Ala) http://identifiers.org/clinvar/21050 ^@ NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser) http://identifiers.org/clinvar/21051 ^@ NM_000083.2(CLCN1):c.929C>T (p.Thr310Met) http://identifiers.org/clinvar/21052 ^@ NM_000083.2(CLCN1):c.937G>A (p.Ala313Thr) http://identifiers.org/clinvar/21053 ^@ NM_000113.2(TOR1A):c.934_937delAGAG (p.Arg312Phefs) http://identifiers.org/clinvar/21054 ^@ NM_000137.2(FAH):c.192G>T (p.Gln64His) http://identifiers.org/clinvar/21056 ^@ NM_000137.2(FAH):c.607-6T>G http://identifiers.org/clinvar/21057 ^@ NM_000137.2(FAH):c.698A>T (p.Asp233Val) http://identifiers.org/clinvar/21058 ^@ NM_000137.2(FAH):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/21061 ^@ NM_000151.3(G6PC):c.724C>T (p.Gln242Ter) http://identifiers.org/clinvar/21062 ^@ NM_000151.3(G6PC):c.79delC (p.Gln27Argfs) http://identifiers.org/clinvar/21063 ^@ NM_000151.3(G6PC):c.809G>T (p.Gly270Val) http://identifiers.org/clinvar/21065 ^@ NM_000156.5(GAMT):c.327G>A (p.Lys109=) http://identifiers.org/clinvar/21066 ^@ NM_000156.5(GAMT):c.438A>G (p.Thr146=) http://identifiers.org/clinvar/21067 ^@ NM_000156.5(GAMT):c.460-31G>A http://identifiers.org/clinvar/21068 ^@ NM_000156.5(GAMT):c.626C>T (p.Thr209Met) http://identifiers.org/clinvar/21070 ^@ NM_000157.3(GBA):c.1505G>A (p.Arg502His) http://identifiers.org/clinvar/21072 ^@ NM_000157.3(GBA):c.703T>C (p.Ser235Pro) http://identifiers.org/clinvar/21073 ^@ NM_000157.3(GBA):c.93_94insG (p.Gln32Alafs) http://identifiers.org/clinvar/21075 ^@ NM_000162.3(GCK):c.1019+2T>G http://identifiers.org/clinvar/21076 ^@ NM_000162.3(GCK):c.1133C>T (p.Ala378Val) http://identifiers.org/clinvar/21077 ^@ NM_000162.3(GCK):c.1190G>T (p.Arg397Leu) http://identifiers.org/clinvar/21078 ^@ NM_000162.3(GCK):c.790G>A (p.Gly264Ser) http://identifiers.org/clinvar/21079 ^@ NM_000166.5(GJB1):c.123G>C (p.Glu41Asp) http://identifiers.org/clinvar/21080 ^@ NM_000166.5(GJB1):c.145T>C (p.Ser49Pro) http://identifiers.org/clinvar/21081 ^@ NM_000166.5(GJB1):c.187G>A (p.Val63Ile) http://identifiers.org/clinvar/21082 ^@ NM_000166.5(GJB1):c.223C>T (p.Arg75Trp) http://identifiers.org/clinvar/21083 ^@ NM_000166.5(GJB1):c.225delG (p.Leu76Cysfs) http://identifiers.org/clinvar/21084 ^@ NM_000166.5(GJB1):c.43C>T (p.Arg15Trp) http://identifiers.org/clinvar/21085 ^@ NM_000166.5(GJB1):c.536G>A (p.Cys179Tyr) http://identifiers.org/clinvar/21086 ^@ NM_000166.5(GJB1):c.556G>A (p.Glu186Lys) http://identifiers.org/clinvar/21087 ^@ NM_001097642.2(GJB1):c.571_579dupACCGTCTTC (p.Phe193_Met194insThrValPhe) http://identifiers.org/clinvar/21089 ^@ NC_000001.11:g.(196743746_196743798)_(196828364_196828416)del http://identifiers.org/clinvar/21090 ^@ NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) http://identifiers.org/clinvar/21091 ^@ NM_000195.4(HPS1):c.1189delC (p.Gln397Serfs) http://identifiers.org/clinvar/21092 ^@ NM_000195.4(HPS1):c.1323dupA (p.Gln442Thrfs) http://identifiers.org/clinvar/21093 ^@ NM_000195.4(HPS1):c.1375delA (p.Ser459Valfs) http://identifiers.org/clinvar/21094 ^@ NM_000195.4(HPS1):c.1472C>G (p.Pro491Arg) http://identifiers.org/clinvar/21095 ^@ NM_000195.4(HPS1):c.166_168delATC (p.Ile56del) http://identifiers.org/clinvar/21096 ^@ NM_000195.4(HPS1):c.1691delA (p.Lys564Argfs) http://identifiers.org/clinvar/21097 ^@ NM_000195.4(HPS1):c.1744-2A>C http://identifiers.org/clinvar/21098 ^@ NM_000195.4(HPS1):c.1749G>A (p.Trp583Ter) http://identifiers.org/clinvar/21099 ^@ NM_000195.4(HPS1):c.1808A>G (p.Gln603Arg) http://identifiers.org/clinvar/21100 ^@ NM_000195.4(HPS1):c.1888G>A (p.Val630Ile) http://identifiers.org/clinvar/21101 ^@ NM_000195.4(HPS1):c.2003T>C (p.Leu668Pro) http://identifiers.org/clinvar/21102 ^@ NM_000195.4(HPS1):c.288delT (p.Asp97Thrfs) http://identifiers.org/clinvar/21103 ^@ NM_000195.4(HPS1):c.355delC (p.His119Thrfs) http://identifiers.org/clinvar/21104 ^@ NM_000195.4(HPS1):c.391C>T (p.Arg131Ter) http://identifiers.org/clinvar/21105 ^@ NM_000195.4(HPS1):c.418delG (p.Ala140Argfs) http://identifiers.org/clinvar/21106 ^@ NM_000195.4(HPS1):c.532dupC (p.Gln178Profs) http://identifiers.org/clinvar/21107 ^@ NM_000195.4(HPS1):c.716T>C (p.Leu239Pro) http://identifiers.org/clinvar/21108 ^@ NM_000195.4(HPS1):c.847G>T (p.Gly283Trp) http://identifiers.org/clinvar/21109 ^@ NM_000195.4(HPS1):c.932delG (p.Ser311Thrfs) http://identifiers.org/clinvar/21110 ^@ NM_000195.4(HPS1):c.962delG (p.Gly321Alafs) http://identifiers.org/clinvar/21113 ^@ NM_000195.4(HPS1):c.974_975insC (p.Met325Ilefs) http://identifiers.org/clinvar/21114 ^@ NM_000207.2(INS):c.127T>G (p.Cys43Gly) http://identifiers.org/clinvar/21115 ^@ NM_000207.2(INS):c.140G>T (p.Gly47Val) http://identifiers.org/clinvar/21117 ^@ NM_000207.2(INS):c.265C>T (p.Arg89Cys) http://identifiers.org/clinvar/21118 ^@ NM_000207.2(INS):c.268G>T (p.Gly90Cys) http://identifiers.org/clinvar/21120 ^@ NM_000207.2(INS):c.323A>G (p.Tyr108Cys) http://identifiers.org/clinvar/21122 ^@ NM_000207.2(INS):c.94G>A (p.Gly32Ser) http://identifiers.org/clinvar/21123 ^@ NM_000207.2(INS):c.94G>C (p.Gly32Arg) http://identifiers.org/clinvar/21124 ^@ NM_000209.3(PDX1):c.188delC (p.Pro63Argfs) http://identifiers.org/clinvar/21125 ^@ NM_000217.2(KCNA1):c.1222G>T (p.Val408Leu) http://identifiers.org/clinvar/21126 ^@ NM_000217.2(KCNA1):c.1241T>G (p.Phe414Cys) http://identifiers.org/clinvar/21127 ^@ NM_000217.2(KCNA1):c.677C>T (p.Thr226Met) http://identifiers.org/clinvar/21128 ^@ NM_000217.2(KCNA1):c.684T>C (p.Cys228=) http://identifiers.org/clinvar/21129 ^@ NM_000217.2(KCNA1):c.748_750delTTC (p.Phe250del) http://identifiers.org/clinvar/21130 ^@ NM_000217.2(KCNA1):c.804G>C (p.Thr268=) http://identifiers.org/clinvar/21132 ^@ NM_000228.2(LAMB3):c.957_958ins77 (p.?) http://identifiers.org/clinvar/21133 ^@ NM_000271.4(NPC1):c.1926G= (p.Met642=) http://identifiers.org/clinvar/21134 ^@ NM_000271.4(NPC1):c.2324A>C (p.Gln775Pro) http://identifiers.org/clinvar/21135 ^@ NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) http://identifiers.org/clinvar/21136 ^@ NM_000271.4(NPC1):c.2793C>T (p.Asn931=) http://identifiers.org/clinvar/21137 ^@ NM_000271.4(NPC1):c.2974G>A (p.Gly992Arg) http://identifiers.org/clinvar/21138 ^@ NM_000271.4(NPC1):c.3160G>A (p.Ala1054Thr) http://identifiers.org/clinvar/21140 ^@ NM_000271.4(NPC1):c.3797G>A (p.Arg1266Gln) http://identifiers.org/clinvar/21142 ^@ NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) http://identifiers.org/clinvar/21143 ^@ NM_000303.2(PMM2):c.415G>A (p.Glu139Lys) http://identifiers.org/clinvar/21144 ^@ NM_000303.2(PMM2):c.653A>T (p.His218Leu) http://identifiers.org/clinvar/21145 ^@ NM_000303.2(PMM2):c.710C>T (p.Thr237Met) http://identifiers.org/clinvar/21147 ^@ NM_000311.4(PRNP):c.435T>G (p.Tyr145Ter) http://identifiers.org/clinvar/21148 ^@ NM_000311.4(PRNP):c.478C>T (p.Gln160Ter) http://identifiers.org/clinvar/21151 ^@ NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) http://identifiers.org/clinvar/21152 ^@ NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile) http://identifiers.org/clinvar/21153 ^@ NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) http://identifiers.org/clinvar/21154 ^@ NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) http://identifiers.org/clinvar/21155 ^@ NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) http://identifiers.org/clinvar/21156 ^@ NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) http://identifiers.org/clinvar/21157 ^@ NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) http://identifiers.org/clinvar/21158 ^@ NM_000334.4(SCN4A):c.4468T>C (p.Phe1490Leu) http://identifiers.org/clinvar/21159 ^@ NM_000334.4(SCN4A):c.4479G>A (p.Met1493Ile) http://identifiers.org/clinvar/21160 ^@ NM_000334.4(SCN4A):c.4483A>T (p.Ile1495Phe) http://identifiers.org/clinvar/21161 ^@ NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) http://identifiers.org/clinvar/21162 ^@ NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) http://identifiers.org/clinvar/21163 ^@ NM_000346.3(SOX9):c.1320C>A (p.Tyr440Ter) http://identifiers.org/clinvar/21164 ^@ NM_000346.3(SOX9):c.507C>T (p.His169=) http://identifiers.org/clinvar/21165 ^@ NM_000352.4(ABCC8):c.257T>C (p.Val86Ala) http://identifiers.org/clinvar/21166 ^@ NM_000352.4(ABCC8):c.394T>G (p.Phe132Val) http://identifiers.org/clinvar/21167 ^@ NM_000352.4(ABCC8):c.404T>C (p.Leu135Pro) http://identifiers.org/clinvar/21168 ^@ NM_000352.4(ABCC8):c.627C>A (p.Asp209Glu) http://identifiers.org/clinvar/21169 ^@ NM_000352.4(ABCC8):c.631C>A (p.Gln211Lys) http://identifiers.org/clinvar/21170 ^@ NM_000352.4(ABCC8):c.674T>C (p.Leu225Pro) http://identifiers.org/clinvar/21171 ^@ NM_000403.3(GALE):c.505C>T (p.Arg169Trp) http://identifiers.org/clinvar/21172 ^@ NM_000403.3(GALE):c.715C>T (p.Arg239Trp) http://identifiers.org/clinvar/21173 ^@ NM_000403.3(GALE):c.905G>A (p.Gly302Asp) http://identifiers.org/clinvar/21174 ^@ NM_000424.3(KRT5):c.1429G>A (p.Glu477Lys) http://identifiers.org/clinvar/21175 ^@ NM_000430.3(PAFAH1B1):c.1002+1G>A http://identifiers.org/clinvar/21176 ^@ NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs) http://identifiers.org/clinvar/21177 ^@ NM_000430.3(PAFAH1B1):c.1050dupG (p.Lys351Glufs) http://identifiers.org/clinvar/21180 ^@ NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) http://identifiers.org/clinvar/21181 ^@ NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) http://identifiers.org/clinvar/21182 ^@ NM_000430.3(PAFAH1B1):c.569-10T>C http://identifiers.org/clinvar/21184 ^@ NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser) http://identifiers.org/clinvar/21186 ^@ NM_000487.5(ARSA):c.257G>A (p.Arg86Gln) http://identifiers.org/clinvar/21187 ^@ NM_000487.5(ARSA):c.769G>C (p.Asp257His) http://identifiers.org/clinvar/21190 ^@ NM_000518.4(HBB):c.316-2A>C http://identifiers.org/clinvar/21191 ^@ NM_000518.4(HBB):c.316-2A>G http://identifiers.org/clinvar/21193 ^@ NM_000525.3(KCNJ11):c.1001G>A (p.Gly334Asp) http://identifiers.org/clinvar/21194 ^@ NM_000525.3(KCNJ11):c.103T>C (p.Phe35Leu) http://identifiers.org/clinvar/21195 ^@ NM_000525.3(KCNJ11):c.103T>G (p.Phe35Val) http://identifiers.org/clinvar/21196 ^@ NM_000525.3(KCNJ11):c.155A>G (p.Gln52Arg) http://identifiers.org/clinvar/21197 ^@ NM_000525.3(KCNJ11):c.497G>A (p.Cys166Tyr) http://identifiers.org/clinvar/21198 ^@ NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val) http://identifiers.org/clinvar/21199 ^@ NM_000525.3(KCNJ11):c.602G>T (p.Arg201Leu) http://identifiers.org/clinvar/21200 ^@ NM_000525.3(KCNJ11):c.755T>C (p.Val252Ala) http://identifiers.org/clinvar/21201 ^@ NM_000525.3(KCNJ11):c.886A>C (p.Ile296Leu) http://identifiers.org/clinvar/21202 ^@ NM_000525.3(KCNJ11):c.886A>G (p.Ile296Val) http://identifiers.org/clinvar/21203 ^@ NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys) http://identifiers.org/clinvar/21204 ^@ NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys) http://identifiers.org/clinvar/21205 ^@ NM_000525.3(KCNJ11):c.997T>A (p.Phe333Ile) http://identifiers.org/clinvar/21207 ^@ NM_000528.3(MAN2B1):c.1830+1G>C http://identifiers.org/clinvar/21208 ^@ NM_000528.3(MAN2B1):c.1831-2A>G http://identifiers.org/clinvar/21209 ^@ NM_000528.3(MAN2B1):c.2165+1G>A http://identifiers.org/clinvar/21210 ^@ NM_000528.3(MAN2B1):c.2426T>C (p.Leu809Pro) http://identifiers.org/clinvar/21212 ^@ NM_000639.2(FASLG):c.466A>G (p.Arg156Gly) http://identifiers.org/clinvar/21215 ^@ NM_000642.2(AGL):c.2590C>T (p.Arg864Ter) http://identifiers.org/clinvar/21216 ^@ NM_000642.2(AGL):c.3682C>T (p.Arg1228Ter) http://identifiers.org/clinvar/21219 ^@ NM_000920.3(PC):c.1054G>T (p.Ala352Ser) http://identifiers.org/clinvar/21220 ^@ NM_000920.3(PC):c.1705A>G (p.Thr569Ala) http://identifiers.org/clinvar/21221 ^@ NM_000920.3(PC):c.184C>T (p.Arg62Cys) http://identifiers.org/clinvar/21222 ^@ NM_000920.3(PC):c.1892G>A (p.Arg631Gln) http://identifiers.org/clinvar/21223 ^@ NM_000920.3(PC):c.2114C>A (p.Ser705Ter) http://identifiers.org/clinvar/21224 ^@ NM_000920.3(PC):c.227A>T (p.His76Leu) http://identifiers.org/clinvar/21225 ^@ NM_000920.3(PC):c.2286C>G (p.Arg762=) http://identifiers.org/clinvar/21226 ^@ NM_000920.3(PC):c.2540C>T (p.Ala847Val) http://identifiers.org/clinvar/21227 ^@ NM_000920.3(PC):c.2619C>T (p.Asn873=) http://identifiers.org/clinvar/21228 ^@ NM_000920.3(PC):c.2874G>T (p.Gly958=) http://identifiers.org/clinvar/21229 ^@ NM_000920.3(PC):c.3409_3410delCT (p.Leu1137Valfs) http://identifiers.org/clinvar/21230 ^@ NM_000920.3(PC):c.796T>A (p.Ser266Thr) http://identifiers.org/clinvar/21231 ^@ NM_001017420.2(ESCO2):c.1111_1112insG (p.Thr371Serfs) http://identifiers.org/clinvar/21232 ^@ NM_001017420.2(ESCO2):c.1111dupA (p.Thr371Asnfs) http://identifiers.org/clinvar/21233 ^@ NM_001017420.2(ESCO2):c.1131+1G>A http://identifiers.org/clinvar/21234 ^@ NM_001017420.2(ESCO2):c.1132-7A>G http://identifiers.org/clinvar/21235 ^@ NM_001017420.2(ESCO2):c.1263+1G>C http://identifiers.org/clinvar/21236 ^@ NM_001017420.2(ESCO2):c.1354-18G>A http://identifiers.org/clinvar/21237 ^@ NM_001017420.2(ESCO2):c.1461_1462delAG (p.Arg487Serfs) http://identifiers.org/clinvar/21238 ^@ NM_001017420.2(ESCO2):c.1597dupT (p.Cys533Leufs) http://identifiers.org/clinvar/21239 ^@ NM_001017420.2(ESCO2):c.1674-2A>G http://identifiers.org/clinvar/21240 ^@ NM_001017420.2(ESCO2):c.239C>T (p.Ala80Val) http://identifiers.org/clinvar/21241 ^@ NM_001017420.2(ESCO2):c.252_253delAT (p.Ser85Phefs) http://identifiers.org/clinvar/21242 ^@ NM_001017420.2(ESCO2):c.294_297delGAGA (p.Arg99Serfs) http://identifiers.org/clinvar/21243 ^@ NM_001017420.2(ESCO2):c.307_311delAAAGA (p.Lys103Glufs) http://identifiers.org/clinvar/21244 ^@ NM_001017420.2(ESCO2):c.308_309delAA (p.Lys103Argfs) http://identifiers.org/clinvar/21245 ^@ NM_001017420.2(ESCO2):c.417dupA (p.Pro140Thrfs) http://identifiers.org/clinvar/21246 ^@ NM_001017420.2(ESCO2):c.745_746delGT (p.Val249Glnfs) http://identifiers.org/clinvar/21247 ^@ NM_001017420.2(ESCO2):c.760delA (p.Thr254Leufs) http://identifiers.org/clinvar/21249 ^@ NM_001017420.2(ESCO2):c.764_765delTT (p.Phe255Cysfs) http://identifiers.org/clinvar/21250 ^@ NM_001017420.2(ESCO2):c.875_878delACAG (p.Asp292Glufs) http://identifiers.org/clinvar/21251 ^@ NM_001017420.2(ESCO2):c.879_880delAG (p.Arg293Serfs) http://identifiers.org/clinvar/21252 ^@ NM_001017420.2(ESCO2):c.955+2_955+5delTAAG http://identifiers.org/clinvar/21253 ^@ NM_000048.3(ASL):c.1060C>T (p.Gln354Ter) http://identifiers.org/clinvar/21254 ^@ NM_001024943.1(ASL):c.346C>T (p.Gln116Ter) http://identifiers.org/clinvar/21255 ^@ NM_001034850.2(RETREG1):c.1135C>G (p.Gln379Glu) http://identifiers.org/clinvar/21256 ^@ NM_001034850.2(RETREG1):c.1145G>C (p.Ser382Thr) http://identifiers.org/clinvar/21257 ^@ NM_001034850.2(RETREG1):c.18_19delTC (p.Pro7Glyfs) http://identifiers.org/clinvar/21259 ^@ NM_001034850.2(RETREG1):c.873+2T>C http://identifiers.org/clinvar/21262 ^@ NM_001110556.1(FLNA):c.3552C>A (p.Asp1184Glu) http://identifiers.org/clinvar/21264 ^@ NM_198129.2(LAMA3):c.6943A>T (p.Arg2315Ter) http://identifiers.org/clinvar/21265 ^@ NM_001129765.1(NSDHL):c.1046A>G (p.Tyr349Cys) http://identifiers.org/clinvar/21266 ^@ NM_001129765.1(NSDHL):c.1098dupT (p.Arg367Serfs) http://identifiers.org/clinvar/21267 ^@ NM_001129765.1(NSDHL):c.370G>A (p.Gly124Ser) http://identifiers.org/clinvar/21268 ^@ NM_001129765.1(NSDHL):c.696_698delGAA (p.Lys232del) http://identifiers.org/clinvar/21269 ^@ NM_001184985.1(WNK1):c.2697delA (p.Glu899Aspfs) http://identifiers.org/clinvar/21270 ^@ NM_001184985.1(WNK1):c.3021dupA (p.Ser1008Ilefs) http://identifiers.org/clinvar/21272 ^@ NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) http://identifiers.org/clinvar/21273 ^@ NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) http://identifiers.org/clinvar/21274 ^@ NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) http://identifiers.org/clinvar/21275 ^@ NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) http://identifiers.org/clinvar/21276 ^@ NM_001360.2(DHCR7):c.725G>A (p.Arg242His) http://identifiers.org/clinvar/21277 ^@ NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) http://identifiers.org/clinvar/21278 ^@ NM_001457.3(FLNB):c.1081G>A (p.Gly361Ser) http://identifiers.org/clinvar/21279 ^@ NM_001457.3(FLNB):c.1088G>A (p.Gly363Glu) http://identifiers.org/clinvar/21280 ^@ NM_001457.3(FLNB):c.1945C>T (p.Arg649Ter) http://identifiers.org/clinvar/21281 ^@ NM_001457.3(FLNB):c.4292T>G (p.Leu1431Arg) http://identifiers.org/clinvar/21282 ^@ NM_001457.3(FLNB):c.442T>A (p.Trp148Arg) http://identifiers.org/clinvar/21283 ^@ NM_001457.3(FLNB):c.4711_4713delAAT (p.Asn1571del) http://identifiers.org/clinvar/21284 ^@ NM_001457.3(FLNB):c.4747_4749delGAC (p.Asp1583del) http://identifiers.org/clinvar/21285 ^@ NM_001457.3(FLNB):c.4775T>A (p.Val1592Asp) http://identifiers.org/clinvar/21286 ^@ NM_001457.3(FLNB):c.4804T>C (p.Ser1602Pro) http://identifiers.org/clinvar/21287 ^@ NM_001457.3(FLNB):c.4808C>T (p.Pro1603Leu) http://identifiers.org/clinvar/21288 ^@ NM_001457.3(FLNB):c.4927G>T (p.Ala1643Ser) http://identifiers.org/clinvar/21290 ^@ NM_001457.3(FLNB):c.542G>T (p.Gly181Val) http://identifiers.org/clinvar/21291 ^@ NM_001457.3(FLNB):c.549C>G (p.Cys183Trp) http://identifiers.org/clinvar/21292 ^@ NM_001457.3(FLNB):c.5500G>A (p.Gly1834Arg) http://identifiers.org/clinvar/21293 ^@ NM_001457.3(FLNB):c.602C>T (p.Ala201Val) http://identifiers.org/clinvar/21294 ^@ NM_001457.3(FLNB):c.608A>C (p.Gln203Pro) http://identifiers.org/clinvar/21295 ^@ NM_001457.3(FLNB):c.629G>T (p.Gly210Val) http://identifiers.org/clinvar/21296 ^@ NM_001457.3(FLNB):c.700C>G (p.Leu234Val) http://identifiers.org/clinvar/21297 ^@ NM_001457.3(FLNB):c.7029T>G (p.Tyr2343Ter) http://identifiers.org/clinvar/21298 ^@ NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr) http://identifiers.org/clinvar/21299 ^@ NM_001482.2(GATM):c.484+1G>T http://identifiers.org/clinvar/21300 ^@ NM_001701.3(BAAT):c.858C>G (p.Ser286=) http://identifiers.org/clinvar/21301 ^@ NM_001701.3(BAAT):c.967A>G (p.Ile323Val) http://identifiers.org/clinvar/21302 ^@ NM_001920.4(DCN):c.941delC (p.Pro314Hisfs) http://identifiers.org/clinvar/21303 ^@ NM_002111.6(HTT):c.52_54(?_25) http://identifiers.org/clinvar/21304 ^@ NM_002230.2(JUP):c.2089A>T (p.Met697Leu) http://identifiers.org/clinvar/21305 ^@ NM_002529.3(NTRK1):c.1660delC (p.Arg554Glyfs) http://identifiers.org/clinvar/21306 ^@ NM_002529.3(NTRK1):c.1860_1861insT (p.Pro621Serfs) http://identifiers.org/clinvar/21307 ^@ NM_002529.3(NTRK1):c.2020G>T (p.Asp674Tyr) http://identifiers.org/clinvar/21308 ^@ NM_002529.3(NTRK1):c.851-33T>A http://identifiers.org/clinvar/21309 ^@ NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) http://identifiers.org/clinvar/21310 ^@ NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) http://identifiers.org/clinvar/21311 ^@ NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) http://identifiers.org/clinvar/21312 ^@ NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) http://identifiers.org/clinvar/21313 ^@ NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) http://identifiers.org/clinvar/21314 ^@ NM_002693.2(POLG):c.3488T>G (p.Met1163Arg) http://identifiers.org/clinvar/21315 ^@ NM_002693.2(POLG):c.3630dupC (p.Gly1211Argfs) http://identifiers.org/clinvar/21316 ^@ NM_002693.2(POLG):c.3708G>T (p.Gln1236His) http://identifiers.org/clinvar/21317 ^@ NM_002693.2(POLG):c.52C>T (p.Pro18Ser) http://identifiers.org/clinvar/21318 ^@ NM_002693.2(POLG):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/21319 ^@ NM_002693.2(POLG):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/21320 ^@ NM_002693.2(POLG):c.970C>T (p.Pro324Ser) http://identifiers.org/clinvar/21321 ^@ NM_002764.3(PRPS1):c.336T>C (p.Val112=) http://identifiers.org/clinvar/21323 ^@ NM_002764.3(PRPS1):c.447G>A (p.Pro149=) http://identifiers.org/clinvar/21324 ^@ NM_002775.4(HTRA1):c.102C>T (p.Ala34=) http://identifiers.org/clinvar/21325 ^@ NM_002775.4(HTRA1):c.108G>C (p.Gly36=) http://identifiers.org/clinvar/21326 ^@ NM_002775.4(HTRA1):c.108G>T (p.Gly36=) http://identifiers.org/clinvar/21327 ^@ NM_002863.4(PYGL):c.1195C>T (p.Arg399Ter) http://identifiers.org/clinvar/21328 ^@ NM_002863.4(PYGL):c.1366G>A (p.Val456Met) http://identifiers.org/clinvar/21329 ^@ NM_002863.4(PYGL):c.1471C>T (p.Arg491Cys) http://identifiers.org/clinvar/21330 ^@ NM_002863.4(PYGL):c.1895A>T (p.Asn632Ile) http://identifiers.org/clinvar/21331 ^@ NM_002863.4(PYGL):c.1900G>C (p.Asp634His) http://identifiers.org/clinvar/21332 ^@ NM_002863.4(PYGL):c.2017G>A (p.Glu673Lys) http://identifiers.org/clinvar/21333 ^@ NM_002863.4(PYGL):c.2023T>A (p.Ser675Thr) http://identifiers.org/clinvar/21334 ^@ NM_002863.4(PYGL):c.2024C>T (p.Ser675Leu) http://identifiers.org/clinvar/21335 ^@ NM_002863.4(PYGL):c.2042A>C (p.Lys681Thr) http://identifiers.org/clinvar/21336 ^@ NM_002863.4(PYGL):c.2461T>C (p.Tyr821His) http://identifiers.org/clinvar/21337 ^@ NM_002863.4(PYGL):c.280C>T (p.Arg94Ter) http://identifiers.org/clinvar/21338 ^@ NM_002863.4(PYGL):c.38A>C (p.Gln13Pro) http://identifiers.org/clinvar/21339 ^@ NM_002863.4(PYGL):c.698G>A (p.Gly233Asp) http://identifiers.org/clinvar/21341 ^@ NM_002880.3(RAF1):c.1456G>A (p.Asp486Asn) http://identifiers.org/clinvar/21342 ^@ NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) http://identifiers.org/clinvar/21343 ^@ NM_002977.3(SCN9A):c.1185C>A (p.Asn395Lys) http://identifiers.org/clinvar/21344 ^@ NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) http://identifiers.org/clinvar/21345 ^@ NM_002977.3(SCN9A):c.2468T>G (p.Leu823Arg) http://identifiers.org/clinvar/21346 ^@ NM_002977.3(SCN9A):c.2587G>C (p.Ala863Pro) http://identifiers.org/clinvar/21347 ^@ NM_002977.3(SCN9A):c.3448C>T (p.Arg1150Trp) http://identifiers.org/clinvar/21348 ^@ NM_002977.3(SCN9A):c.406A>G (p.Ile136Val) http://identifiers.org/clinvar/21349 ^@ NM_002977.3(SCN9A):c.601T>G (p.Leu201Val) http://identifiers.org/clinvar/21350 ^@ NM_002977.3(SCN9A):c.616A>G (p.Asn206Asp) http://identifiers.org/clinvar/21351 ^@ NM_003002.3(SDHD):c.284T>C (p.Leu95Pro) http://identifiers.org/clinvar/21352 ^@ NM_003035.2(STIL):c.1262A>C (p.Gln421Pro) http://identifiers.org/clinvar/21353 ^@ NM_003035.2(STIL):c.1263A>C (p.Gln421His) http://identifiers.org/clinvar/21354 ^@ NM_003035.2(STIL):c.257C>T (p.Ala86Val) http://identifiers.org/clinvar/21355 ^@ NM_003035.2(STIL):c.2855C>A (p.Ser952Tyr) http://identifiers.org/clinvar/21356 ^@ NM_003035.2(STIL):c.2954A>G (p.His985Arg) http://identifiers.org/clinvar/21357 ^@ NM_003035.2(STIL):c.3434C>T (p.Ala1145Val) http://identifiers.org/clinvar/21358 ^@ NM_003221.3(TFAP2B):c.444C>A (p.Asp148Glu) http://identifiers.org/clinvar/21359 ^@ NM_003221.3(TFAP2B):c.601+5G>A http://identifiers.org/clinvar/21360 ^@ NM_003221.3(TFAP2B):c.772T>G (p.Ser258Ala) http://identifiers.org/clinvar/21361 ^@ NM_003221.3(TFAP2B):c.822-1G>C http://identifiers.org/clinvar/21362 ^@ NM_003227.3(TFR2):c.1186C>T (p.Arg396Ter) http://identifiers.org/clinvar/21363 ^@ NM_003227.3(TFR2):c.1231_1233delAAC (p.Asn412del) http://identifiers.org/clinvar/21364 ^@ NM_003227.3(TFR2):c.1330G>A (p.Ala444Thr) http://identifiers.org/clinvar/21365 ^@ NM_003227.3(TFR2):c.1403G>A (p.Arg468His) http://identifiers.org/clinvar/21366 ^@ NM_003227.3(TFR2):c.1469T>G (p.Leu490Arg) http://identifiers.org/clinvar/21367 ^@ NM_003227.3(TFR2):c.1665delC (p.Ser556Alafs) http://identifiers.org/clinvar/21368 ^@ NM_003227.3(TFR2):c.1770C>T (p.Asp590=) http://identifiers.org/clinvar/21369 ^@ NM_003227.3(TFR2):c.1851C>T (p.Ala617=) http://identifiers.org/clinvar/21370 ^@ NM_003227.3(TFR2):c.1861_1872delGCCGTGGCCCAG (p.Ala621_Gln624del) http://identifiers.org/clinvar/21371 ^@ NM_003227.3(TFR2):c.2137-1G>A http://identifiers.org/clinvar/21372 ^@ NM_003227.3(TFR2):c.2228C>T (p.Ala743Val) http://identifiers.org/clinvar/21373 ^@ NM_003227.3(TFR2):c.224C>T (p.Ala75Val) http://identifiers.org/clinvar/21374 ^@ NM_003227.3(TFR2):c.2374G>A (p.Gly792Arg) http://identifiers.org/clinvar/21375 ^@ NM_003227.3(TFR2):c.313C>T (p.Arg105Ter) http://identifiers.org/clinvar/21376 ^@ NM_003227.3(TFR2):c.473+49C>A http://identifiers.org/clinvar/21377 ^@ NM_003227.3(TFR2):c.64G>A (p.Val22Ile) http://identifiers.org/clinvar/21378 ^@ NM_003227.3(TFR2):c.714C>G (p.Ile238Met) http://identifiers.org/clinvar/21379 ^@ NM_003227.3(TFR2):c.949C>T (p.Gln317Ter) http://identifiers.org/clinvar/21380 ^@ NM_003227.3(TFR2):c.97C>A (p.His33Asn) http://identifiers.org/clinvar/21381 ^@ NM_003383.4(VLDLR):c.1342C>T (p.Arg448Ter) http://identifiers.org/clinvar/21385 ^@ NM_004004.5(GJB2):c.339T>G (p.Ser113Arg) http://identifiers.org/clinvar/21387 ^@ NM_004004.5(GJB2):c.35G>T (p.Gly12Val) http://identifiers.org/clinvar/21388 ^@ NM_004004.5(GJB2):c.487A>G (p.Met163Val) http://identifiers.org/clinvar/21389 ^@ NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) http://identifiers.org/clinvar/21390 ^@ NM_004082.4(DCTN1):c.212G>A (p.Gly71Glu) http://identifiers.org/clinvar/21391 ^@ NM_004082.4(DCTN1):c.212G>C (p.Gly71Ala) http://identifiers.org/clinvar/21392 ^@ NM_004082.4(DCTN1):c.214A>C (p.Thr72Pro) http://identifiers.org/clinvar/21393 ^@ NM_004085.3(TIMM8A):c.112C>T (p.Gln38Ter) http://identifiers.org/clinvar/21394 ^@ NM_004085.3(TIMM8A):c.*502_*504dupTGA http://identifiers.org/clinvar/21395 ^@ NM_004304.4(ALK):c.3260C>T (p.Thr1087Ile) http://identifiers.org/clinvar/21396 ^@ NM_004364.4(CEBPA):c.141delC (p.Ala48Profs) http://identifiers.org/clinvar/21397 ^@ NM_004364.4(CEBPA):c.198_201dupCTAC (p.Ile68Leufs*41) http://identifiers.org/clinvar/21398 ^@ NM_004364.4(CEBPA):c.217_218insC (p.Phe73Serfs) http://identifiers.org/clinvar/21399 ^@ NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) http://identifiers.org/clinvar/21401 ^@ NM_004364.4(CEBPA):c.68dupC (p.His24Alafs) http://identifiers.org/clinvar/21402 ^@ NM_004364.4(CEBPA):c.690G>T (p.Thr230=) http://identifiers.org/clinvar/21403 ^@ NM_004364.4(CEBPA):c.713C>A (p.Ala238Glu) http://identifiers.org/clinvar/21404 ^@ NM_004364.4(CEBPA):c.754G>T (p.Ala252Ser) http://identifiers.org/clinvar/21405 ^@ NM_004385.4(VCAN):c.4004-1G>A http://identifiers.org/clinvar/21406 ^@ NM_004385.4(VCAN):c.4004-5T>A http://identifiers.org/clinvar/21407 ^@ NM_004385.4(VCAN):c.4004-5T>C http://identifiers.org/clinvar/21408 ^@ NM_004385.4(VCAN):c.9265+1G>A http://identifiers.org/clinvar/21409 ^@ NM_004519.3(KCNQ3):c.1241A>G (p.Glu414Gly) http://identifiers.org/clinvar/21410 ^@ NM_004519.3(KCNQ3):c.1403A>G (p.Asn468Ser) http://identifiers.org/clinvar/21411 ^@ NM_004519.3(KCNQ3):c.1720C>T (p.Pro574Ser) http://identifiers.org/clinvar/21412 ^@ NM_004519.3(KCNQ3):c.2462A>G (p.Asn821Ser) http://identifiers.org/clinvar/21413 ^@ NM_004519.3(KCNQ3):c.895G>A (p.Glu299Lys) http://identifiers.org/clinvar/21414 ^@ NM_004519.3(KCNQ3):c.914A>G (p.Asp305Gly) http://identifiers.org/clinvar/21415 ^@ NM_004519.3(KCNQ3):c.925T>C (p.Trp309Arg) http://identifiers.org/clinvar/21417 ^@ NM_004519.3(KCNQ3):c.988C>T (p.Arg330Cys) http://identifiers.org/clinvar/21418 ^@ NM_004525.2(LRP2):c.11469_11472delTTTG (p.Cys3823Trpfs) http://identifiers.org/clinvar/21419 ^@ NM_004525.2(LRP2):c.13139dupC (p.Cys4381Metfs) http://identifiers.org/clinvar/21420 ^@ NM_004525.2(LRP2):c.770-2A>G http://identifiers.org/clinvar/21421 ^@ NM_004525.2(LRP2):c.9358_9359delAG (p.Ser3120Trpfs) http://identifiers.org/clinvar/21423 ^@ NM_004700.3(KCNQ4):c.1503C>T (p.Thr501=) http://identifiers.org/clinvar/21424 ^@ NM_004700.3(KCNQ4):c.546C>G (p.Phe182Leu) http://identifiers.org/clinvar/21425 ^@ NM_004700.3(KCNQ4):c.648C>T (p.Arg216=) http://identifiers.org/clinvar/21426 ^@ NM_004700.3(KCNQ4):c.778G>A (p.Glu260Lys) http://identifiers.org/clinvar/21427 ^@ NM_004700.3(KCNQ4):c.785A>T (p.Asp262Val) http://identifiers.org/clinvar/21428 ^@ NM_004750.4(CRLF1):c.1121T>G (p.Leu374Arg) http://identifiers.org/clinvar/21430 ^@ NM_004750.4(CRLF1):c.303delC (p.Asn102Thrfs) http://identifiers.org/clinvar/21431 ^@ NM_004750.4(CRLF1):c.31_53del23 (p.Gln11Valfs) http://identifiers.org/clinvar/21432 ^@ NM_004750.4(CRLF1):c.397+1G>A http://identifiers.org/clinvar/21433 ^@ NM_004750.4(CRLF1):c.413C>T (p.Pro138Leu) http://identifiers.org/clinvar/21434 ^@ NM_004750.4(CRLF1):c.538C>T (p.Gln180Ter) http://identifiers.org/clinvar/21436 ^@ NM_004750.4(CRLF1):c.852G>T (p.Trp284Cys) http://identifiers.org/clinvar/21437 ^@ NM_004750.4(CRLF1):c.935G>A (p.Arg312His) http://identifiers.org/clinvar/21438 ^@ NM_001031681.2(CTNS):c.198_218del21 (p.Ile67_Pro73del) http://identifiers.org/clinvar/21439 ^@ NM_004937.2(CTNS):c.473T>C (p.Leu158Pro) http://identifiers.org/clinvar/21440 ^@ NM_004937.2(CTNS):c.613G>A (p.Asp205Asn) http://identifiers.org/clinvar/21441 ^@ NM_004937.2(CTNS):c.696dupC (p.Val233Argfs) http://identifiers.org/clinvar/21442 ^@ NM_004937.2(CTNS):c.559_561+24del27 http://identifiers.org/clinvar/21443 ^@ NM_005183.3(CACNA1F):c.3166dupC (p.Leu1056Profs) http://identifiers.org/clinvar/21444 ^@ NM_005333.4(HCCS):c.475G>A (p.Glu159Lys) http://identifiers.org/clinvar/24842 ^@ NM_005359.5(SMAD4):c.1162C>T (p.Gln388Ter) http://identifiers.org/clinvar/21448 ^@ NM_005629.3(SLC6A8):c.321_323delCTT (p.Phe107del) http://identifiers.org/clinvar/21450 ^@ NM_006329.3(FBLN5):c.1090G>T (p.Asp364Tyr) http://identifiers.org/clinvar/21451 ^@ NM_006329.3(FBLN5):c.1171G>T (p.Glu391Ter) http://identifiers.org/clinvar/21452 ^@ NM_006329.3(FBLN5):c.380-9061_873dup http://identifiers.org/clinvar/21453 ^@ NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) http://identifiers.org/clinvar/21454 ^@ NM_006329.3(FBLN5):c.649T>C (p.Cys217Arg) http://identifiers.org/clinvar/21455 ^@ NM_006432.3(NPC2):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/21456 ^@ NM_006432.3(NPC2):c.141C>A (p.Cys47Ter) http://identifiers.org/clinvar/21457 ^@ NM_006432.3(NPC2):c.27delG (p.Leu10Serfs) http://identifiers.org/clinvar/21458 ^@ NM_006432.3(NPC2):c.295T>C (p.Cys99Arg) http://identifiers.org/clinvar/21459 ^@ NM_006432.3(NPC2):c.332delA (p.Asn111Ilefs) http://identifiers.org/clinvar/21460 ^@ NM_006517.4(SLC16A2):c.873A>T (p.Pro291=) http://identifiers.org/clinvar/21461 ^@ NM_006517.4(SLC16A2):c.1278_1280delCTT (p.Phe427del) http://identifiers.org/clinvar/21462 ^@ NM_006517.4(SLC16A2):c.97T>C (p.Ser33Pro) http://identifiers.org/clinvar/21463 ^@ NM_006517.4(SLC16A2):c.359C>T (p.Ser120Phe) http://identifiers.org/clinvar/21464 ^@ NM_006894.5(FMO3):c.1079T>C (p.Leu360Pro) http://identifiers.org/clinvar/21465 ^@ NM_007375.3(TARDBP):c.*83T>C http://identifiers.org/clinvar/21474 ^@ NM_007375.3(TARDBP):c.1144G>A (p.Ala382Thr) http://identifiers.org/clinvar/21483 ^@ NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) http://identifiers.org/clinvar/21484 ^@ NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) http://identifiers.org/clinvar/21485 ^@ NM_007375.3(TARDBP):c.883G>A (p.Gly295Ser) http://identifiers.org/clinvar/21490 ^@ NM_012203.1(GRHPR):c.579A>G (p.Ala193=) http://identifiers.org/clinvar/21492 ^@ NM_012434.4(SLC17A5):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/21493 ^@ NM_012434.4(SLC17A5):c.406A>G (p.Lys136Glu) http://identifiers.org/clinvar/21494 ^@ NM_012463.3(ATP6V0A2):c.1324G>T (p.Glu442Ter) http://identifiers.org/clinvar/21495 ^@ NM_012463.3(ATP6V0A2):c.1929delA (p.Gln645Argfs) http://identifiers.org/clinvar/21496 ^@ NM_012463.3(ATP6V0A2):c.2176-3_2176-2delCA http://identifiers.org/clinvar/21497 ^@ NM_012463.3(ATP6V0A2):c.2302G>A (p.Asp768Asn) http://identifiers.org/clinvar/21498 ^@ NM_012463.3(ATP6V0A2):c.*115C>T http://identifiers.org/clinvar/21499 ^@ NM_012463.3(ATP6V0A2):c.294+1G>A http://identifiers.org/clinvar/21500 ^@ NM_012463.3(ATP6V0A2):c.353_354delTG (p.Leu118Glnfs) http://identifiers.org/clinvar/21501 ^@ NM_012463.3(ATP6V0A2):c.732-2A>G http://identifiers.org/clinvar/21502 ^@ NM_012463.3(ATP6V0A2):c.839delC (p.Glu281Argfs) http://identifiers.org/clinvar/21503 ^@ NM_013246.2(CLCF1):c.46T>C (p.Cys16Arg) http://identifiers.org/clinvar/21504 ^@ NM_013246.2(CLCF1):c.676T>C (p.Ter226Arg) http://identifiers.org/clinvar/21505 ^@ NM_014043.3(CHMP2B):c.532-1G>A http://identifiers.org/clinvar/21506 ^@ NM_014043.3(CHMP2B):c.556C>T (p.Arg186Ter) http://identifiers.org/clinvar/21507 ^@ NM_014043.3(CHMP2B):c.85A>G (p.Ile29Val) http://identifiers.org/clinvar/21508 ^@ NM_014251.2(SLC25A13):c.1078C>T (p.Arg360Ter) http://identifiers.org/clinvar/21509 ^@ NM_014251.2(SLC25A13):c.1592G>A (p.Gly531Asp) http://identifiers.org/clinvar/21510 ^@ NM_014251.2(SLC25A13):c.15G>A (p.Lys5=) http://identifiers.org/clinvar/21511 ^@ NM_014251.2(SLC25A13):c.1750_1751[insNM_138459.3:2672_24;1750+72_1751-4dup] http://identifiers.org/clinvar/21512 ^@ NM_014251.2(SLC25A13):c.1801G>A (p.Glu601Lys) http://identifiers.org/clinvar/21513 ^@ NM_014251.2(SLC25A13):c.1801G>T (p.Glu601Ter) http://identifiers.org/clinvar/21514 ^@ NM_014251.2(SLC25A13):c.1813C>T (p.Arg605Ter) http://identifiers.org/clinvar/21515 ^@ NM_014251.2(SLC25A13):c.550C>T (p.Arg184Ter) http://identifiers.org/clinvar/21516 ^@ NM_014251.2(SLC25A13):c.615+1G>C http://identifiers.org/clinvar/21517 ^@ NM_014251.2(SLC25A13):c.615+5G>A http://identifiers.org/clinvar/21518 ^@ NM_014646.2(LPIN2):c.1043C>T (p.Pro348Leu) http://identifiers.org/clinvar/21519 ^@ NM_014646.2(LPIN2):c.2327+1G>C http://identifiers.org/clinvar/21520 ^@ NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) http://identifiers.org/clinvar/21521 ^@ NM_015166.3(MLC1):c.1031A>G (p.Asn344Ser) http://identifiers.org/clinvar/21522 ^@ NM_015166.3(MLC1):c.178-10T>A http://identifiers.org/clinvar/21523 ^@ NM_015166.3(MLC1):c.298_423+108del http://identifiers.org/clinvar/21524 ^@ NM_015166.3(MLC1):c.512G>T (p.Cys171Phe) http://identifiers.org/clinvar/21525 ^@ NM_015166.3(MLC1):c.654C>A (p.Asn218Lys) http://identifiers.org/clinvar/21526 ^@ NM_015166.3(MLC1):c.925C>A (p.Leu309Met) http://identifiers.org/clinvar/21527 ^@ NM_015560.2(OPA1):c.1065+1G>T http://identifiers.org/clinvar/21528 ^@ NM_001127713.1(ATL1):c.1519dupA (Ile507Asnfs) http://identifiers.org/clinvar/21529 ^@ NM_015915.4(ATL1):c.129C>G (p.Asp43Glu) http://identifiers.org/clinvar/21530 ^@ NM_015915.4(ATL1):c.351G>A (p.Glu117=) http://identifiers.org/clinvar/21531 ^@ NM_015915.4(ATL1):c.467C>T (p.Thr156Ile) http://identifiers.org/clinvar/21532 ^@ NM_015915.4(ATL1):c.578T>G (p.Phe193Cys) http://identifiers.org/clinvar/21533 ^@ NM_015915.4(ATL1):c.621G>A (p.Lys207=) http://identifiers.org/clinvar/21534 ^@ NM_015915.4(ATL1):c.84A>G (p.Pro28=) http://identifiers.org/clinvar/21536 ^@ NM_016038.3(SBDS):c.141C>T (p.Leu47=) http://identifiers.org/clinvar/21537 ^@ NM_016038.3(SBDS):c.201A>G (p.Lys67=) http://identifiers.org/clinvar/21538 ^@ NM_016038.3(SBDS):c.258+1G>C http://identifiers.org/clinvar/21539 ^@ NM_016038.3(SBDS):c.297_300delAAGA (p.Glu99Aspfs) http://identifiers.org/clinvar/21540 ^@ NM_016038.3(SBDS):c.377G>C (p.Arg126Thr) http://identifiers.org/clinvar/21541 ^@ NM_016038.3(SBDS):c.505C>T (p.Arg169Cys) http://identifiers.org/clinvar/21542 ^@ NM_016038.3(SBDS):c.624+1G>C http://identifiers.org/clinvar/21543 ^@ NM_016038.3(SBDS):c.635T>C (p.Ile212Thr) http://identifiers.org/clinvar/21544 ^@ NM_016038.3(SBDS):c.651C>T (p.Phe217=) http://identifiers.org/clinvar/21545 ^@ NM_016038.3(SBDS):c.652C>T (p.Arg218Ter) http://identifiers.org/clinvar/21546 ^@ NM_018122.4(DARS2):c.1013G>A (p.Gly338Glu) http://identifiers.org/clinvar/21547 ^@ NM_018122.4(DARS2):c.587A>G (p.Lys196Arg) http://identifiers.org/clinvar/21548 ^@ NM_018136.4(ASPM):c.1002delA (p.Val335Terfs) http://identifiers.org/clinvar/21549 ^@ NM_018136.4(ASPM):c.10059C>A (p.Tyr3353Ter) http://identifiers.org/clinvar/21551 ^@ NM_018136.4(ASPM):c.1179delT (p.Asn394Ilefs) http://identifiers.org/clinvar/21552 ^@ NM_018136.4(ASPM):c.1260_1266delTCAAGTC (p.Gln421Hisfs) http://identifiers.org/clinvar/21553 ^@ NM_018136.4(ASPM):c.1288A>G (p.Arg430Gly) http://identifiers.org/clinvar/21554 ^@ NM_018136.4(ASPM):c.1366G>T (p.Glu456Ter) http://identifiers.org/clinvar/21555 ^@ NM_018136.4(ASPM):c.1406_1413delATCCTAAA (p.Asn469Ilefs) http://identifiers.org/clinvar/21556 ^@ NM_018136.4(ASPM):c.1590delA (p.Val531Terfs) http://identifiers.org/clinvar/21558 ^@ NM_018136.4(ASPM):c.1631_1635delATCTT (p.Tyr544Serfs) http://identifiers.org/clinvar/21559 ^@ NM_018136.4(ASPM):c.1727_1728delAG (p.Ser577Argfs) http://identifiers.org/clinvar/21560 ^@ NM_018136.4(ASPM):c.1959_1962delCAAA (p.Asn653Lysfs) http://identifiers.org/clinvar/21561 ^@ NM_018136.4(ASPM):c.1977T>C (p.Ile659=) http://identifiers.org/clinvar/21562 ^@ NM_018136.4(ASPM):c.1990C>T (p.Gln664Ter) http://identifiers.org/clinvar/21564 ^@ NM_018136.4(ASPM):c.2606C>T (p.Thr869Ile) http://identifiers.org/clinvar/21565 ^@ NM_018136.4(ASPM):c.2761-25A>G http://identifiers.org/clinvar/21566 ^@ NM_018136.4(ASPM):c.2779T>C (p.Leu927=) http://identifiers.org/clinvar/21567 ^@ NM_018136.4(ASPM):c.2805T>C (p.Ser935=) http://identifiers.org/clinvar/21568 ^@ NM_018136.4(ASPM):c.2936+5G>T http://identifiers.org/clinvar/21569 ^@ NM_018136.4(ASPM):c.2938C>T (p.Arg980Ter) http://identifiers.org/clinvar/21570 ^@ NM_018136.4(ASPM):c.2967G>A (p.Trp989Ter) http://identifiers.org/clinvar/21571 ^@ NM_018136.4(ASPM):c.3055C>T (p.Arg1019Ter) http://identifiers.org/clinvar/21572 ^@ NM_018136.4(ASPM):c.3082G>A (p.Gly1028Arg) http://identifiers.org/clinvar/21573 ^@ NM_018136.4(ASPM):c.3138G>A (p.Arg1046=) http://identifiers.org/clinvar/21574 ^@ NM_018136.4(ASPM):c.3188T>G (p.Leu1063Ter) http://identifiers.org/clinvar/21575 ^@ NM_018136.4(ASPM):c.3269C>T (p.Ser1090Phe) http://identifiers.org/clinvar/21576 ^@ NM_018136.4(ASPM):c.3477_3481delCGCTA (p.Ala1160Metfs) http://identifiers.org/clinvar/21577 ^@ NM_018136.4(ASPM):c.3527C>G (p.Ser1176Ter) http://identifiers.org/clinvar/21578 ^@ NM_018136.4(ASPM):c.3579T>A (p.Ser1193=) http://identifiers.org/clinvar/21579 ^@ NM_018136.4(ASPM):c.3663delG (p.Arg1221Serfs) http://identifiers.org/clinvar/21580 ^@ NM_018136.4(ASPM):c.3710C>G (p.Ser1237Ter) http://identifiers.org/clinvar/21581 ^@ NM_018136.4(ASPM):c.3741+1G>A http://identifiers.org/clinvar/21582 ^@ NM_018136.4(ASPM):c.3796G>T (p.Glu1266Ter) http://identifiers.org/clinvar/21583 ^@ NM_018136.4(ASPM):c.3811C>T (p.Arg1271Ter) http://identifiers.org/clinvar/21584 ^@ NM_018136.4(ASPM):c.4074G>A (p.Trp1358Ter) http://identifiers.org/clinvar/21585 ^@ NM_018136.4(ASPM):c.440delA (p.Lys147Argfs) http://identifiers.org/clinvar/21586 ^@ NM_018136.4(ASPM):c.4449A>G (p.Lys1483=) http://identifiers.org/clinvar/21587 ^@ NM_018136.4(ASPM):c.4581delA (p.Lys1528Argfs) http://identifiers.org/clinvar/21588 ^@ NM_018136.4(ASPM):c.4795C>T (p.Arg1599Ter) http://identifiers.org/clinvar/21589 ^@ NM_018136.4(ASPM):c.4855_4856delTA (p.Ile1620Phefs) http://identifiers.org/clinvar/21590 ^@ NM_018136.4(ASPM):c.5136C>A (p.Tyr1712Ter) http://identifiers.org/clinvar/21591 ^@ NM_018136.4(ASPM):c.5149delA (p.Ile1717Terfs) http://identifiers.org/clinvar/21592 ^@ NM_018136.4(ASPM):c.577C>T (p.Gln193Ter) http://identifiers.org/clinvar/21593 ^@ NM_018136.4(ASPM):c.5961A>G (p.Gln1987=) http://identifiers.org/clinvar/21594 ^@ NM_018136.4(ASPM):c.6232C>T (p.Arg2078Ter) http://identifiers.org/clinvar/21596 ^@ NM_018136.4(ASPM):c.6651_6654delAACA (p.Thr2218Tyrfs) http://identifiers.org/clinvar/21597 ^@ NM_018136.4(ASPM):c.6732delA (p.Tyr2245Thrfs) http://identifiers.org/clinvar/21598 ^@ NM_018136.4(ASPM):c.7461T>A (p.Ile2487=) http://identifiers.org/clinvar/21599 ^@ NM_018136.4(ASPM):c.7480T>C (p.Tyr2494His) http://identifiers.org/clinvar/21600 ^@ NM_018136.4(ASPM):c.7489_7493delTATAT (p.Thr2499Serfs) http://identifiers.org/clinvar/21602 ^@ NM_018136.4(ASPM):c.7566A>G (p.Leu2522=) http://identifiers.org/clinvar/21603 ^@ NM_018136.4(ASPM):c.7605G>A (p.Val2535=) http://identifiers.org/clinvar/21604 ^@ NM_018136.4(ASPM):c.7674C>T (p.Ile2558=) http://identifiers.org/clinvar/21605 ^@ NM_018136.4(ASPM):c.7684A>G (p.Ser2562Gly) http://identifiers.org/clinvar/21606 ^@ NM_018136.4(ASPM):c.7782_7783delGA (p.Lys2595Serfs) http://identifiers.org/clinvar/21607 ^@ NM_018136.4(ASPM):c.77delG (p.Gly26Alafs) http://identifiers.org/clinvar/21608 ^@ NM_018136.4(ASPM):c.7859_7860delAG (p.Gln2620Hisfs) http://identifiers.org/clinvar/21609 ^@ NM_018136.4(ASPM):c.7860G>C (p.Gln2620His) http://identifiers.org/clinvar/21610 ^@ NM_018136.4(ASPM):c.7894C>T (p.Gln2632Ter) http://identifiers.org/clinvar/21611 ^@ NM_018136.4(ASPM):c.7939C>A (p.Leu2647Ile) http://identifiers.org/clinvar/21612 ^@ NM_018136.4(ASPM):c.8130_8131delAA (p.Lys2711Glufs) http://identifiers.org/clinvar/21613 ^@ NM_018136.4(ASPM):c.8190_8191delAG (p.Glu2731Lysfs) http://identifiers.org/clinvar/21614 ^@ NM_018136.4(ASPM):c.8273T>A (p.Leu2758Ter) http://identifiers.org/clinvar/21615 ^@ NM_018136.4(ASPM):c.8378delT (p.Met2793Argfs) http://identifiers.org/clinvar/21616 ^@ NM_018136.4(ASPM):c.848C>T (p.Ser283Phe) http://identifiers.org/clinvar/21617 ^@ NM_018136.4(ASPM):c.8508_8509delGA (p.Lys2837Metfs) http://identifiers.org/clinvar/21618 ^@ NM_018136.4(ASPM):c.8668C>T (p.Gln2890Ter) http://identifiers.org/clinvar/21619 ^@ NM_018136.4(ASPM):c.8844delC (p.Lys2949Argfs) http://identifiers.org/clinvar/21620 ^@ NM_018136.4(ASPM):c.9118_9119insCATT (p.Tyr3040Serfs) http://identifiers.org/clinvar/21621 ^@ NM_018136.4(ASPM):c.9190C>T (p.Arg3064Ter) http://identifiers.org/clinvar/21622 ^@ NM_018136.4(ASPM):c.9238A>T (p.Lys3080Ter) http://identifiers.org/clinvar/21623 ^@ NM_018136.4(ASPM):c.9319C>T (p.Arg3107Ter) http://identifiers.org/clinvar/21624 ^@ NM_018136.4(ASPM):c.937A>G (p.Ile313Val) http://identifiers.org/clinvar/21625 ^@ NM_018136.4(ASPM):c.9395T>G (p.Leu3132Arg) http://identifiers.org/clinvar/21626 ^@ NM_018136.4(ASPM):c.9492T>G (p.Tyr3164Ter) http://identifiers.org/clinvar/21627 ^@ NM_018136.4(ASPM):c.9507delG (p.Ile3170Leufs) http://identifiers.org/clinvar/21628 ^@ NM_018136.4(ASPM):c.9539A>C (p.Gln3180Pro) http://identifiers.org/clinvar/21629 ^@ NM_018136.4(ASPM):c.9557C>G (p.Ser3186Ter) http://identifiers.org/clinvar/21630 ^@ NM_018136.4(ASPM):c.9595A>T (p.Lys3199Ter) http://identifiers.org/clinvar/21631 ^@ NM_018136.4(ASPM):c.9677dupG (p.Cys3226Trpfs) http://identifiers.org/clinvar/21632 ^@ NM_018136.4(ASPM):c.9681delA (p.Ile3229Leufs) http://identifiers.org/clinvar/21633 ^@ NM_018136.4(ASPM):c.9686_9690delTTAAA (p.Ile3229Serfs) http://identifiers.org/clinvar/21634 ^@ NM_018136.4(ASPM):c.9697C>T (p.Arg3233Ter) http://identifiers.org/clinvar/21635 ^@ NM_018136.4(ASPM):c.9730C>T (p.Arg3244Ter) http://identifiers.org/clinvar/21636 ^@ NM_018136.4(ASPM):c.9745_9746delCT (p.Tyr3250Glnfs) http://identifiers.org/clinvar/21637 ^@ NM_018136.4(ASPM):c.9754delA (p.Arg3252Glufs) http://identifiers.org/clinvar/21638 ^@ NM_018136.4(ASPM):c.9773A>G (p.His3258Arg) http://identifiers.org/clinvar/21639 ^@ NM_018136.4(ASPM):c.9789T>A (p.Tyr3263Ter) http://identifiers.org/clinvar/21640 ^@ NM_018136.4(ASPM):c.9841A>T (p.Arg3281Ter) http://identifiers.org/clinvar/21641 ^@ NM_018136.4(ASPM):c.9984+1G>T http://identifiers.org/clinvar/21642 ^@ NM_018249.5(CDK5RAP2):c.1712T>C (p.Leu571Pro) http://identifiers.org/clinvar/21644 ^@ NM_018249.5(CDK5RAP2):c.2599G>A (p.Gly867Arg) http://identifiers.org/clinvar/21645 ^@ NM_018249.5(CDK5RAP2):c.3065G>A (p.Gly1022Glu) http://identifiers.org/clinvar/21646 ^@ NM_018249.5(CDK5RAP2):c.3134G>C (p.Arg1045Thr) http://identifiers.org/clinvar/21647 ^@ NM_018249.5(CDK5RAP2):c.3989A>T (p.Asn1330Ile) http://identifiers.org/clinvar/21648 ^@ NM_018249.5(CDK5RAP2):c.409G>T (p.Ala137Ser) http://identifiers.org/clinvar/21649 ^@ NM_018249.5(CDK5RAP2):c.4103C>T (p.Ser1368Phe) http://identifiers.org/clinvar/21650 ^@ NM_018249.5(CDK5RAP2):c.4547A>G (p.Glu1516Gly) http://identifiers.org/clinvar/21651 ^@ NM_018249.5(CDK5RAP2):c.4618G>C (p.Val1540Leu) http://identifiers.org/clinvar/21652 ^@ NM_018249.5(CDK5RAP2):c.4665G>T (p.Gln1555His) http://identifiers.org/clinvar/21653 ^@ NM_018249.5(CDK5RAP2):c.546T>G (p.Phe182Leu) http://identifiers.org/clinvar/21654 ^@ NM_018249.5(CDK5RAP2):c.547G>C (p.Ala183Pro) http://identifiers.org/clinvar/21655 ^@ NM_018249.5(CDK5RAP2):c.569C>T (p.Ala190Val) http://identifiers.org/clinvar/21656 ^@ NM_018249.5(CDK5RAP2):c.764C>T (p.Ser255Leu) http://identifiers.org/clinvar/21657 ^@ NM_018249.5(CDK5RAP2):c.865G>C (p.Glu289Gln) http://identifiers.org/clinvar/21658 ^@ NM_018249.5(CDK5RAP2):c.91G>A (p.Asp31Asn) http://identifiers.org/clinvar/21659 ^@ NM_018451.4(CENPJ):c.163C>G (p.Pro55Ala) http://identifiers.org/clinvar/21660 ^@ NM_018451.4(CENPJ):c.187G>C (p.Asp63His) http://identifiers.org/clinvar/21661 ^@ NM_018451.4(CENPJ):c.2635T>G (p.Ser879Ala) http://identifiers.org/clinvar/21662 ^@ NM_018451.4(CENPJ):c.2678A>C (p.Gln893Pro) http://identifiers.org/clinvar/21663 ^@ NM_018451.4(CENPJ):c.289A>G (p.Thr97Ala) http://identifiers.org/clinvar/21664 ^@ NM_018451.4(CENPJ):c.3305A>G (p.Asn1102Ser) http://identifiers.org/clinvar/21665 ^@ NM_018451.4(CENPJ):c.452A>G (p.Glu151Gly) http://identifiers.org/clinvar/21666 ^@ NM_018451.4(CENPJ):c.61A>G (p.Met21Val) http://identifiers.org/clinvar/21667 ^@ NM_170784.2(MKKS):c.-674_-673insTGGCGGCCTG http://identifiers.org/clinvar/21668 ^@ NM_170784.2(MKKS):c.-74G>A http://identifiers.org/clinvar/21669 ^@ NM_170784.2(MKKS):c.117C>T (p.Pro39=) http://identifiers.org/clinvar/21670 ^@ NM_170784.2(MKKS):c.431_441delTTAGTAGTACT (p.Phe144Serfs) http://identifiers.org/clinvar/21671 ^@ NM_170784.2(MKKS):c.534C>T (p.Ile178=) http://identifiers.org/clinvar/21672 ^@ NM_170784.2(MKKS):c.876_877insCCTG (p.Cys293Profs) http://identifiers.org/clinvar/21673 ^@ NM_021830.4(TWNK):c.1287C>T (p.Ala429=) http://identifiers.org/clinvar/21676 ^@ NM_022081.5(HPS4):c.1866delC (p.Thr623Profs) http://identifiers.org/clinvar/21678 ^@ NM_022081.5(HPS4):c.461A>G (p.His154Arg) http://identifiers.org/clinvar/21679 ^@ NM_022081.5(HPS4):c.57dupT (p.Leu20Serfs) http://identifiers.org/clinvar/21680 ^@ NM_024529.4(CDC73):c.-11G>A http://identifiers.org/clinvar/21681 ^@ NM_024529.4(CDC73):c.1066+8T>C http://identifiers.org/clinvar/21682 ^@ NM_024529.4(CDC73):c.1418-17C>G http://identifiers.org/clinvar/21683 ^@ NM_024529.4(CDC73):c.237+28T= http://identifiers.org/clinvar/21684 ^@ NM_024529.4(CDC73):c.237+28_237+31delTCTA http://identifiers.org/clinvar/21686 ^@ NM_024529.4(CDC73):c.729+50_729+51delAG http://identifiers.org/clinvar/21687 ^@ NM_024529.4(CDC73):c.766_767delGT (p.Val256Lysfs) http://identifiers.org/clinvar/21688 ^@ NM_024577.3(SH3TC2):c.1178-1G>A http://identifiers.org/clinvar/21689 ^@ NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) http://identifiers.org/clinvar/21690 ^@ NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) http://identifiers.org/clinvar/21691 ^@ NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) http://identifiers.org/clinvar/21692 ^@ NM_024577.3(SH3TC2):c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73Profs) http://identifiers.org/clinvar/21693 ^@ NM_024577.3(SH3TC2):c.2191delG (p.Glu731Lysfs) http://identifiers.org/clinvar/21694 ^@ NM_024577.3(SH3TC2):c.2491_2492delAG (p.Leu832Hisfs) http://identifiers.org/clinvar/21695 ^@ NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) http://identifiers.org/clinvar/21696 ^@ NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) http://identifiers.org/clinvar/21697 ^@ NM_024577.3(SH3TC2):c.28delG (p.Glu10Serfs) http://identifiers.org/clinvar/21698 ^@ NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) http://identifiers.org/clinvar/21699 ^@ NM_024577.3(SH3TC2):c.3341delC (p.Pro1114Leufs) http://identifiers.org/clinvar/21700 ^@ NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) http://identifiers.org/clinvar/21701 ^@ NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) http://identifiers.org/clinvar/21702 ^@ NM_024596.4(MCPH1):c.2282C>T (p.Ala761Val) http://identifiers.org/clinvar/21703 ^@ NM_024596.4(MCPH1):c.2482C>T (p.Pro828Ser) http://identifiers.org/clinvar/21704 ^@ NM_024596.4(MCPH1):c.80C>G (p.Thr27Arg) http://identifiers.org/clinvar/21705 ^@ NM_024596.4(MCPH1):c.940G>C (p.Asp314His) http://identifiers.org/clinvar/21706 ^@ NM_024649.4(BBS1):c.1340-2A>G http://identifiers.org/clinvar/21707 ^@ NM_024649.4(BBS1):c.831-3C>G http://identifiers.org/clinvar/21708 ^@ NM_024649.4(BBS1):c.-3_37del40 http://identifiers.org/clinvar/21709 ^@ NM_025136.3(OPA3):c.231T>C (p.Ala77=) http://identifiers.org/clinvar/21710 ^@ NM_025136.3(OPA3):c.415C>T (p.Gln139Ter) http://identifiers.org/clinvar/21713 ^@ NM_032520.4(GNPTG):c.196C>T (p.Arg66Ter) http://identifiers.org/clinvar/21714 ^@ NM_032520.4(GNPTG):c.318-1G>C http://identifiers.org/clinvar/21715 ^@ NM_032520.4(GNPTG):c.347_349delACA (p.Asn116del) http://identifiers.org/clinvar/21716 ^@ NM_032520.4(GNPTG):c.379_391delGACGCCTGCCGTT (p.Asp127Profs) http://identifiers.org/clinvar/21717 ^@ NM_032520.4(GNPTG):c.523dupC (p.Leu175Profs) http://identifiers.org/clinvar/21718 ^@ NM_032520.4(GNPTG):c.608_609insC (p.Gln203Hisfs) http://identifiers.org/clinvar/21719 ^@ NM_032520.4(GNPTG):c.609+28_610-16del http://identifiers.org/clinvar/21720 ^@ NM_032520.4(GNPTG):c.610-1G>T http://identifiers.org/clinvar/21721 ^@ NM_032520.4(GNPTG):c.610-2A>G http://identifiers.org/clinvar/21722 ^@ NM_032520.4(GNPTG):c.619_620insT (p.Lys207Ilefs) http://identifiers.org/clinvar/21723 ^@ NM_032520.4(GNPTG):c.639delT (p.Phe213Leufs) http://identifiers.org/clinvar/21724 ^@ NM_032520.4(GNPTG):c.857C>T (p.Thr286Met) http://identifiers.org/clinvar/21725 ^@ FAM126A:c.627-439_831+348del http://identifiers.org/clinvar/21726 ^@ NM_032581.3(FAM126A):c.624A>G (p.Ser208=) http://identifiers.org/clinvar/21727 ^@ NM_032977.3(CASP10):c.1228G>A (p.Val410Ile) http://identifiers.org/clinvar/21728 ^@ NM_032977.3(CASP10):c.1337A>G (p.Tyr446Cys) http://identifiers.org/clinvar/21729 ^@ NM_033028.4(BBS4):c.220+1G>C http://identifiers.org/clinvar/21730 ^@ NM_033028.4(BBS4):c.406-2A>C http://identifiers.org/clinvar/21731 ^@ NM_033028.4(BBS4):c.-17C>A http://identifiers.org/clinvar/21732 ^@ NM_033028.4(BBS4):c.1451-45T>C http://identifiers.org/clinvar/21733 ^@ NM_033028.4(BBS4):c.-6G>A http://identifiers.org/clinvar/21734 ^@ NM_033028.4(BBS4):c.1061T>C (p.Ile354Thr) http://identifiers.org/clinvar/21735 ^@ NM_033028.4(BBS4):c.*1G>C http://identifiers.org/clinvar/21736 ^@ NM_033028.4(BBS4):c.17T>C (p.Val6Ala) http://identifiers.org/clinvar/21737 ^@ NM_033028.4(BBS4):c.18C>T (p.Val6=) http://identifiers.org/clinvar/21738 ^@ NM_033028.4(BBS4):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/21739 ^@ NM_033028.4(BBS4):c.28dupA (p.Thr10Asnfs) http://identifiers.org/clinvar/21740 ^@ NM_033028.4(BBS4):c.42A>G (p.Val14=) http://identifiers.org/clinvar/21741 ^@ NM_033028.4(BBS4):c.8A>C (p.Glu3Ala) http://identifiers.org/clinvar/21742 ^@ NM_033028.4(BBS4):c.91A>G (p.Ile31Val) http://identifiers.org/clinvar/21743 ^@ NM_080669.5(SLC46A1):c.1274C>G (p.Pro425Arg) http://identifiers.org/clinvar/21744 ^@ NM_080669.5(SLC46A1):c.197_198delGCinsAA (p.Cys66Ter) http://identifiers.org/clinvar/21745 ^@ NM_080669.5(SLC46A1):c.439G>C (p.Gly147Arg) http://identifiers.org/clinvar/21746 ^@ NM_138477.2(CDAN1):c.156C>G (p.Phe52Leu) http://identifiers.org/clinvar/21747 ^@ NM_138477.2(CDAN1):c.1787A>G (p.Gln596Arg) http://identifiers.org/clinvar/21748 ^@ NM_138477.2(CDAN1):c.2140C>T (p.Arg714Trp) http://identifiers.org/clinvar/21749 ^@ NM_138477.2(CDAN1):c.2671C>T (p.Arg891Cys) http://identifiers.org/clinvar/21750 ^@ NM_138477.2(CDAN1):c.3128A>T (p.Asp1043Val) http://identifiers.org/clinvar/21751 ^@ NM_138477.2(CDAN1):c.320A>T (p.Gln107Leu) http://identifiers.org/clinvar/21752 ^@ NM_138477.2(CDAN1):c.386G>A (p.Arg129His) http://identifiers.org/clinvar/21755 ^@ NM_172107.3(KCNQ2):c.1016T>G (p.Leu339Arg) http://identifiers.org/clinvar/21756 ^@ NM_172107.3(KCNQ2):c.1057C>G (p.Arg353Gly) http://identifiers.org/clinvar/21757 ^@ NM_172107.3(KCNQ2):c.1076C>A (p.Thr359Lys) http://identifiers.org/clinvar/21758 ^@ NM_172107.3(KCNQ2):c.1118+1G>A http://identifiers.org/clinvar/21759 ^@ NM_172107.3(KCNQ2):c.1192_1193delAA (p.Lys398Glufs) http://identifiers.org/clinvar/21760 ^@ NM_172107.3(KCNQ2):c.1217+2T>G http://identifiers.org/clinvar/21761 ^@ NM_172107.3(KCNQ2):c.1288C>T (p.Pro430Ser) http://identifiers.org/clinvar/21762 ^@ NM_172107.3(KCNQ2):c.1342C>T (p.Arg448Ter) http://identifiers.org/clinvar/21763 ^@ NM_172107.3(KCNQ2):c.1525+1G>A http://identifiers.org/clinvar/21764 ^@ NM_172107.3(KCNQ2):c.1545G>C (p.Glu515Asp) http://identifiers.org/clinvar/21766 ^@ NM_172107.3(KCNQ2):c.1632-1G>T http://identifiers.org/clinvar/21767 ^@ NM_172107.3(KCNQ2):c.1658G>A (p.Arg553Gln) http://identifiers.org/clinvar/21768 ^@ NM_172107.3(KCNQ2):c.1741C>T (p.Arg581Ter) http://identifiers.org/clinvar/21769 ^@ NM_172107.3(KCNQ2):c.1742G>A (p.Arg581Gln) http://identifiers.org/clinvar/21770 ^@ NM_172107.3(KCNQ2):c.1764A>T (p.Arg588Ser) http://identifiers.org/clinvar/21771 ^@ NM_172107.3(KCNQ2):c.1910T>G (p.Leu637Arg) http://identifiers.org/clinvar/21772 ^@ NM_172107.3(KCNQ2):c.1930delT (p.Tyr644Thrfs) http://identifiers.org/clinvar/21773 ^@ NM_172107.3(KCNQ2):c.1956delG (p.Thr653Glnfs) http://identifiers.org/clinvar/21774 ^@ NM_172107.3(KCNQ2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/21775 ^@ NM_172107.3(KCNQ2):c.2015delG (p.Ser672Thrfs) http://identifiers.org/clinvar/21776 ^@ NM_172107.3(KCNQ2):c.204dupC (p.Lys69Glnfs) http://identifiers.org/clinvar/21778 ^@ NM_172107.3(KCNQ2):c.232delC (p.Gln78Argfs) http://identifiers.org/clinvar/21779 ^@ NM_172107.3(KCNQ2):c.2339A>C (p.Asn780Thr) http://identifiers.org/clinvar/21780 ^@ NM_172107.3(KCNQ2):c.2564C>T (p.Ser855Leu) http://identifiers.org/clinvar/21781 ^@ NM_172107.3(KCNQ2):c.2597delG (p.Gly866Alafs) http://identifiers.org/clinvar/21782 ^@ NM_172107.3(KCNQ2):c.2605_2609dupGGGCC (p.Arg871Glyfs) http://identifiers.org/clinvar/21783 ^@ NM_172107.3(KCNQ2):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/21784 ^@ NM_172107.2(KCNQ2):c.314_316delCCT (p.Ser105del) http://identifiers.org/clinvar/21785 ^@ NM_172107.3(KCNQ2):c.346_348delAAG (p.Lys116del) http://identifiers.org/clinvar/21786 ^@ NM_172107.3(KCNQ2):c.356A>G (p.Glu119Gly) http://identifiers.org/clinvar/21787 ^@ NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) http://identifiers.org/clinvar/21788 ^@ NM_172107.3(KCNQ2):c.387+1G>T http://identifiers.org/clinvar/21789 ^@ NM_172107.3(KCNQ2):c.388-2_388delAGG http://identifiers.org/clinvar/21790 ^@ NM_172107.3(KCNQ2):c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) http://identifiers.org/clinvar/21791 ^@ NM_172107.3(KCNQ2):c.585dupT (p.Ala196Cysfs) http://identifiers.org/clinvar/21792 ^@ NM_172107.3(KCNQ2):c.587C>T (p.Ala196Val) http://identifiers.org/clinvar/21793 ^@ NM_172107.3(KCNQ2):c.622A>G (p.Met208Val) http://identifiers.org/clinvar/21794 ^@ NM_172107.3(KCNQ2):c.635A>G (p.Asp212Gly) http://identifiers.org/clinvar/21795 ^@ NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp) http://identifiers.org/clinvar/21796 ^@ NM_172107.3(KCNQ2):c.63_66delGGTG (p.Val22Alafs) http://identifiers.org/clinvar/21797 ^@ NM_172107.3(KCNQ2):c.684C>A (p.His228Gln) http://identifiers.org/clinvar/21798 ^@ NM_172107.3(KCNQ2):c.727C>T (p.Leu243Phe) http://identifiers.org/clinvar/21799 ^@ NM_172107.3(KCNQ2):c.740C>A (p.Ser247Ter) http://identifiers.org/clinvar/21800 ^@ NM_172107.3(KCNQ2):c.749T>G (p.Val250Gly) http://identifiers.org/clinvar/21801 ^@ NM_172107.3(KCNQ2):c.773A>G (p.Asn258Ser) http://identifiers.org/clinvar/21802 ^@ NM_172107.3(KCNQ2):c.807G>A (p.Trp269Ter) http://identifiers.org/clinvar/21803 ^@ NM_172107.3(KCNQ2):c.812G>T (p.Gly271Val) http://identifiers.org/clinvar/21804 ^@ NM_172107.3(KCNQ2):c.847_848insGT (p.Lys283Serfs) http://identifiers.org/clinvar/21805 ^@ NM_172107.3(KCNQ2):c.881C>G (p.Ala294Gly) http://identifiers.org/clinvar/21807 ^@ NM_172107.3(KCNQ2):c.939dupG (p.Ser314Valfs) http://identifiers.org/clinvar/21808 ^@ NM_172107.3(KCNQ2):c.967C>T (p.Gln323Ter) http://identifiers.org/clinvar/21809 ^@ NM_172107.3(KCNQ2):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/21810 ^@ NM_172107.3(KCNQ2):c.998G>A (p.Arg333Gln) http://identifiers.org/clinvar/21811 ^@ NM_172107.3(KCNQ2):c.296+1G>A http://identifiers.org/clinvar/21812 ^@ NM_172107.3(KCNQ2):c.1302-1G>C http://identifiers.org/clinvar/21814 ^@ NM_172107.3(KCNQ2):c.1764-2A>G http://identifiers.org/clinvar/21815 ^@ NM_172107.3(KCNQ2):c.1764-6C>A http://identifiers.org/clinvar/21816 ^@ NM_172107.3(KCNQ2):c.1148+2T>G http://identifiers.org/clinvar/21817 ^@ NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) http://identifiers.org/clinvar/21818 ^@ NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) http://identifiers.org/clinvar/21819 ^@ NM_181507.1(HPS5):c.2624delT (p.Leu875Cysfs) http://identifiers.org/clinvar/21820 ^@ NM_181507.1(HPS5):c.2928_2929dupGA (p.Thr977Argfs) http://identifiers.org/clinvar/21821 ^@ NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) http://identifiers.org/clinvar/21822 ^@ NM_181507.1(HPS5):c.879dupC (p.Lys294Glnfs) http://identifiers.org/clinvar/21823 ^@ NM_194248.2(OTOF):c.1469C>A (p.Pro490Gln) http://identifiers.org/clinvar/21824 ^@ NM_194248.2(OTOF):c.158C>T (p.Ala53Val) http://identifiers.org/clinvar/21825 ^@ NM_194248.2(OTOF):c.1651delG (p.Glu551Serfs) http://identifiers.org/clinvar/21826 ^@ NM_194248.2(OTOF):c.1723G>A (p.Val575Met) http://identifiers.org/clinvar/21827 ^@ NM_194248.2(OTOF):c.1886dupA (p.Pro630Alafs) http://identifiers.org/clinvar/21828 ^@ NM_194248.2(OTOF):c.1926C>T (p.Asn642=) http://identifiers.org/clinvar/21829 ^@ NM_194248.2(OTOF):c.2022C>T (p.Asp674=) http://identifiers.org/clinvar/21830 ^@ NM_194248.2(OTOF):c.2025G>A (p.Glu675=) http://identifiers.org/clinvar/21831 ^@ NM_194248.2(OTOF):c.2122C>T (p.Arg708Ter) http://identifiers.org/clinvar/21832 ^@ NM_194248.2(OTOF):c.2214+1G>T http://identifiers.org/clinvar/21833 ^@ NM_194248.2(OTOF):c.2317C>T (p.Arg773Cys) http://identifiers.org/clinvar/21834 ^@ NM_194248.2(OTOF):c.2348delG (p.Gly783Alafs) http://identifiers.org/clinvar/21835 ^@ NM_194248.2(OTOF):c.2381G>A (p.Arg794His) http://identifiers.org/clinvar/21836 ^@ NM_194248.2(OTOF):c.244C>T (p.Arg82Cys) http://identifiers.org/clinvar/21837 ^@ NM_194248.2(OTOF):c.2464C>T (p.Arg822Trp) http://identifiers.org/clinvar/21838 ^@ NM_194248.2(OTOF):c.2580C>G (p.Val860=) http://identifiers.org/clinvar/21839 ^@ NM_194248.2(OTOF):c.2736G>C (p.Leu912=) http://identifiers.org/clinvar/21840 ^@ NM_194248.2(OTOF):c.2887C>T (p.Arg963Ter) http://identifiers.org/clinvar/21841 ^@ NM_194248.2(OTOF):c.2991+1G>A http://identifiers.org/clinvar/21843 ^@ NM_194248.2(OTOF):c.3189G>A (p.Ala1063=) http://identifiers.org/clinvar/21844 ^@ NM_194248.2(OTOF):c.3247G>C (p.Ala1083Pro) http://identifiers.org/clinvar/21845 ^@ NM_194248.2(OTOF):c.3470G>A (p.Arg1157Gln) http://identifiers.org/clinvar/21846 ^@ NM_194248.2(OTOF):c.3571-2A>C http://identifiers.org/clinvar/21847 ^@ NM_194248.2(OTOF):c.372A>G (p.Thr124=) http://identifiers.org/clinvar/21848 ^@ NM_194248.2(OTOF):c.3966C>G (p.Asp1322Glu) http://identifiers.org/clinvar/21849 ^@ NM_194248.2(OTOF):c.4275G>A (p.Trp1425Ter) http://identifiers.org/clinvar/21851 ^@ NM_194248.2(OTOF):c.4500+2T>G http://identifiers.org/clinvar/21852 ^@ NM_194248.2(OTOF):c.4559G>A (p.Arg1520Gln) http://identifiers.org/clinvar/21853 ^@ NM_194248.2(OTOF):c.4677G>A (p.Val1559=) http://identifiers.org/clinvar/21854 ^@ NM_194248.2(OTOF):c.4767C>T (p.Arg1589=) http://identifiers.org/clinvar/21855 ^@ NM_194248.2(OTOF):c.4873G>A (p.Val1625Met) http://identifiers.org/clinvar/21856 ^@ NM_194248.2(OTOF):c.4936C>T (p.Pro1646Ser) http://identifiers.org/clinvar/21857 ^@ NM_194248.2(OTOF):c.5391C>T (p.Phe1797=) http://identifiers.org/clinvar/21858 ^@ NM_194248.2(OTOF):c.5655C>T (p.Arg1885=) http://identifiers.org/clinvar/21859 ^@ NM_194248.2(OTOF):c.5663G>A (p.Gly1888Asp) http://identifiers.org/clinvar/21860 ^@ NM_194248.2(OTOF):c.5712+1G>A http://identifiers.org/clinvar/21862 ^@ NM_194248.1:c.5860_5862delATC http://identifiers.org/clinvar/21863 ^@ NM_194248.2(OTOF):c.5960C>G (p.Pro1987Arg) http://identifiers.org/clinvar/21864 ^@ NM_194248.2(OTOF):c.945G>A (p.Lys315=) http://identifiers.org/clinvar/21865 ^@ NM_194318.3(B3GLCT):c.1098T>A (p.Tyr366Ter) http://identifiers.org/clinvar/21866 ^@ NM_199292.2(TH):c.334G>A (p.Val112Met) http://identifiers.org/clinvar/21867 ^@ NM_004304.4(ALK):c.3749T>C (p.Ile1250Thr) http://identifiers.org/clinvar/21869 ^@ nsv491550 http://identifiers.org/clinvar/24205 ^@ NM_000495.4(COL4A5):c.81+1G>C http://identifiers.org/clinvar/24206 ^@ NM_000495.4(COL4A5):c.1542_1543delAG (p.Glu516Lysfs) http://identifiers.org/clinvar/24208 ^@ NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del http://identifiers.org/clinvar/24209 ^@ NM_033380.2(COL4A5):c.(?_-129378)_(81_?)del (p.?) http://identifiers.org/clinvar/24210 ^@ NM_000495.3(COL4A5):c.1-?_81+?del http://identifiers.org/clinvar/24211 ^@ NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del http://identifiers.org/clinvar/24212 ^@ NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del http://identifiers.org/clinvar/24213 ^@ NM_000495.4(COL4A5):c.(?_-202)-1738_(81_?)del http://identifiers.org/clinvar/24214 ^@ NM_000495.4(COL4A5):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/24215 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24216 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24217 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24218 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24219 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24220 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24221 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24224 ^@ NM_000495.3(COL4A5):c.1-?_5058+?del http://identifiers.org/clinvar/24225 ^@ NM_000495.4(COL4A5):c.2_3delTG (p.Met1Lysfs) http://identifiers.org/clinvar/24226 ^@ NM_000495.4(COL4A5):c.13G>T (p.Gly5Ter) http://identifiers.org/clinvar/24227 ^@ NM_000495.4(COL4A5):c.38_41dupTCTT (p.Leu14Phefs) http://identifiers.org/clinvar/24228 ^@ NM_000495.4(COL4A5):c.49_50delCT (p.Leu17Glufs) http://identifiers.org/clinvar/24229 ^@ NM_000495.4(COL4A5):c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs) http://identifiers.org/clinvar/24230 ^@ NP_203699.1:p.Ala28_Lys1082dup http://identifiers.org/clinvar/24231 ^@ NM_000495.4(COL4A5):c.82-?_465+?del http://identifiers.org/clinvar/24232 ^@ NM_000495.4(COL4A5):c.82-?_1165+?del http://identifiers.org/clinvar/24233 ^@ NM_000495.4(COL4A5):c.82-?_3246+?del http://identifiers.org/clinvar/24234 ^@ NM_000495.4(COL4A5):c.82-?_3373+?del http://identifiers.org/clinvar/24237 ^@ COL4A5:c.82-?_141+?del (p.Ala28_Lys47del) http://identifiers.org/clinvar/24238 ^@ NM_000495.4(COL4A5):c.87C>A (p.Cys29Ter) http://identifiers.org/clinvar/24239 ^@ NM_000495.4(COL4A5):c.90T>G (p.Tyr30Ter) http://identifiers.org/clinvar/24240 ^@ NM_000495.4(COL4A5):c.119delG (p.Cys40Serfs) http://identifiers.org/clinvar/24241 ^@ NM_000495.4(COL4A5):c.142-1G>A http://identifiers.org/clinvar/24242 ^@ NM_000495.4(COL4A5):c.142-?_3373+?del http://identifiers.org/clinvar/24243 ^@ NM_000495.4(COL4A5):c.142-?_2677+?del http://identifiers.org/clinvar/24244 ^@ NM_000495.4(COL4A5):c.142G>A (p.Gly48Arg) http://identifiers.org/clinvar/24245 ^@ NP_203699.1:p.Gly51fs http://identifiers.org/clinvar/24246 ^@ COL4A5:c.142-?_231+?del(p.Gly48_Lys77del) http://identifiers.org/clinvar/24248 ^@ NM_000495.4(COL4A5):c.231+1G>A http://identifiers.org/clinvar/24249 ^@ NM_000495.4(COL4A5):c.232-1G>T http://identifiers.org/clinvar/24250 ^@ NM_000495.4(COL4A5):c.232-1G>A http://identifiers.org/clinvar/24251 ^@ NM_000495.4(COL4A5):c.232-?_2041+?del http://identifiers.org/clinvar/24252 ^@ NM_000495.4(COL4A5):c.232-?_780+?del http://identifiers.org/clinvar/24253 ^@ NM_000495.4(COL4A5):c.232-?_4510+?del http://identifiers.org/clinvar/24254 ^@ NM_000495.4(COL4A5):c.250delG (p.Pro85Hisfs) http://identifiers.org/clinvar/24255 ^@ NM_000495.4(COL4A5):c.276+5G>A http://identifiers.org/clinvar/24256 ^@ NM_000495.4(COL4A5):c.277-1G>T http://identifiers.org/clinvar/24257 ^@ NM_000495.4(COL4A5):c.277-?_609+?del http://identifiers.org/clinvar/24258 ^@ NM_000495.4(COL4A5):c.286G>A (p.Gly96Arg) http://identifiers.org/clinvar/24259 ^@ NM_000495.4(COL4A5):c.293delC (p.Pro98Leufs) http://identifiers.org/clinvar/24260 ^@ NM_000495.4(COL4A5):c.322-1G>A http://identifiers.org/clinvar/24261 ^@ NM_000495.4(COL4A5):c.351_359delACCTCAAGG (p.Pro118_Gly120del) http://identifiers.org/clinvar/24262 ^@ NM_000495.4(COL4A5):c.368delG (p.Gly123Aspfs) http://identifiers.org/clinvar/24263 ^@ NM_000495.4(COL4A5):c.385-719G>A http://identifiers.org/clinvar/24264 ^@ NM_000495.4(COL4A5):c.385-1G>C http://identifiers.org/clinvar/24265 ^@ NM_000495.4(COL4A5):c.385G>A (p.Gly129Arg) http://identifiers.org/clinvar/24266 ^@ NM_000495.4(COL4A5):c.386G>A (p.Gly129Glu) http://identifiers.org/clinvar/24267 ^@ NM_000495.4(COL4A5):c.386G>T (p.Gly129Val) http://identifiers.org/clinvar/24268 ^@ NM_000495.4(COL4A5):c.388G>T (p.Glu130Ter) http://identifiers.org/clinvar/24269 ^@ NM_000495.4(COL4A5):c.430G>A (p.Gly144Ser) http://identifiers.org/clinvar/24270 ^@ NM_000495.4(COL4A5):c.431G>A (p.Gly144Asp) http://identifiers.org/clinvar/24271 ^@ NM_000495.4(COL4A5):c.438+5G>A http://identifiers.org/clinvar/24272 ^@ NM_000495.4(COL4A5):c.440delG (p.Gly147Aspfs) http://identifiers.org/clinvar/24273 ^@ NM_000495.4(COL4A5):c.442dupC (p.Gly150Trpfs) http://identifiers.org/clinvar/24274 ^@ NM_000495.4(COL4A5):c.446delC (p.Pro149Leufs) http://identifiers.org/clinvar/24275 ^@ NM_000495.4(COL4A5):c.466-17T>G http://identifiers.org/clinvar/24276 ^@ NM_000495.4(COL4A5):c.466-12G>A http://identifiers.org/clinvar/24277 ^@ NM_000495.4(COL4A5):c.466-2A>G http://identifiers.org/clinvar/24278 ^@ NM_000495.4(COL4A5):c.520G>C (p.Gly174Arg) http://identifiers.org/clinvar/24279 ^@ NM_000495.4(COL4A5):c.529G>T (p.Gly177Cys) http://identifiers.org/clinvar/24280 ^@ NM_000495.4(COL4A5):c.529G>C (p.Gly177Arg) http://identifiers.org/clinvar/24281 ^@ NM_000495.4(COL4A5):c.533delC (p.Pro178Leufs) http://identifiers.org/clinvar/24282 ^@ NM_000495.4(COL4A5):c.538G>A (p.Gly180Arg) http://identifiers.org/clinvar/24283 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24284 ^@ NM_000495.4(COL4A5):c.546+1G>A http://identifiers.org/clinvar/24285 ^@ NM_033380.2(COL4A5):c.546+3_546+4insT (p.?) http://identifiers.org/clinvar/24286 ^@ NM_000495.4(COL4A5):c.547-2A>G http://identifiers.org/clinvar/24287 ^@ NM_000495.4(COL4A5):c.547-1G>A http://identifiers.org/clinvar/24288 ^@ NM_000495.4(COL4A5):c.547dupG (p.Leu184Profs) http://identifiers.org/clinvar/24289 ^@ NM_000495.4(COL4A5):c.548G>T (p.Gly183Val) http://identifiers.org/clinvar/24290 ^@ NM_000495.4(COL4A5):c.550dupC (p.Leu184Profs) http://identifiers.org/clinvar/24291 ^@ NM_000495.4(COL4A5):c.574G>A (p.Gly192Arg) http://identifiers.org/clinvar/24292 ^@ NM_000495.4(COL4A5):c.584G>A (p.Gly195Asp) http://identifiers.org/clinvar/24293 ^@ NM_000495.4(COL4A5):c.593G>A (p.Gly198Glu) http://identifiers.org/clinvar/24294 ^@ NM_000495.4(COL4A5):c.602G>T (p.Gly201Val) http://identifiers.org/clinvar/24295 ^@ NM_000495.4(COL4A5):c.609+1G>A http://identifiers.org/clinvar/24296 ^@ NM_000495.4(COL4A5):c.609+21T>C http://identifiers.org/clinvar/24297 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24298 ^@ NM_000495.4(COL4A5):c.610-2A>G http://identifiers.org/clinvar/24299 ^@ NM_000495.4(COL4A5):c.610_628del19 (p.Gly204Aspfs) http://identifiers.org/clinvar/24300 ^@ NM_000495.4(COL4A5):c.611G>A (p.Gly204Asp) http://identifiers.org/clinvar/24301 ^@ NM_000495.4(COL4A5):c.611G>T (p.Gly204Val) http://identifiers.org/clinvar/24302 ^@ NM_000495.4(COL4A5):c.611_612delGC (p.Gly204Alafs) http://identifiers.org/clinvar/24303 ^@ NM_000495.4(COL4A5):c.634delC (p.Pro212Glnfs) http://identifiers.org/clinvar/24304 ^@ NM_000495.4(COL4A5):c.638G>A (p.Gly213Glu) http://identifiers.org/clinvar/24305 ^@ NM_000495.4(COL4A5):c.646-12_646-11delTT http://identifiers.org/clinvar/24306 ^@ NM_000495.4(COL4A5):c.646-3C>A http://identifiers.org/clinvar/24307 ^@ NM_000495.4(COL4A5):c.646G>A (p.Gly216Arg) http://identifiers.org/clinvar/24308 ^@ NM_000495.4(COL4A5):c.647G>T (p.Gly216Val) http://identifiers.org/clinvar/24309 ^@ NM_000495.4(COL4A5):c.647_648dupGG (p.Asn217Glyfs) http://identifiers.org/clinvar/24310 ^@ NM_000495.4(COL4A5):c.648dupG (p.Asn217Glufs) http://identifiers.org/clinvar/24311 ^@ NM_000495.4(COL4A5):c.655G>A (p.Gly219Ser) http://identifiers.org/clinvar/24312 ^@ NM_000495.4(COL4A5):c.687+1G>A http://identifiers.org/clinvar/24313 ^@ NM_000495.4(COL4A5):c.688-3C>G http://identifiers.org/clinvar/24314 ^@ NM_000495.4(COL4A5):c.688G>C (p.Gly230Arg) http://identifiers.org/clinvar/24315 ^@ NM_000495.4(COL4A5):c.689delG (p.Gly230Valfs) http://identifiers.org/clinvar/24316 ^@ NM_000495.4(COL4A5):c.689G>A (p.Gly230Asp) http://identifiers.org/clinvar/24317 ^@ NM_000495.4(COL4A5):c.716G>A (p.Gly239Glu) http://identifiers.org/clinvar/24318 ^@ NM_000495.4(COL4A5):c.761_762delAG (p.Glu254Valfs) http://identifiers.org/clinvar/24319 ^@ NM_000495.4(COL4A5):c.780+2T>G http://identifiers.org/clinvar/24320 ^@ NM_033380.3(COL4A5):c.781-1_786delGGGACTT (p.?) http://identifiers.org/clinvar/24321 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24322 ^@ NM_000495.4(COL4A5):c.781-?_1423+?del http://identifiers.org/clinvar/24323 ^@ NM_000495.4(COL4A5):c.790G>C (p.Gly264Arg) http://identifiers.org/clinvar/24324 ^@ NM_000495.4(COL4A5):c.791G>A (p.Gly264Asp) http://identifiers.org/clinvar/24325 ^@ NM_000495.4(COL4A5):c.796C>T (p.Arg266Ter) http://identifiers.org/clinvar/24326 ^@ NM_000495.4(COL4A5):c.812delC (p.Pro271Leufs) http://identifiers.org/clinvar/24327 ^@ NM_000495.4(COL4A5):c.834+1G>A http://identifiers.org/clinvar/24328 ^@ NM_000495.4(COL4A5):c.834+5G>T http://identifiers.org/clinvar/24329 ^@ NM_000495.4(COL4A5):c.859G>T (p.Glu287Ter) http://identifiers.org/clinvar/24330 ^@ NM_000495.4(COL4A5):c.866G>T (p.Gly289Val) http://identifiers.org/clinvar/24331 ^@ NM_000495.4(COL4A5):c.866delG (p.Gly289Valfs) http://identifiers.org/clinvar/24332 ^@ NM_000495.4(COL4A5):c.873delA (p.Gly292Glufs) http://identifiers.org/clinvar/24333 ^@ NM_000495.4(COL4A5):c.874G>C (p.Gly292Arg) http://identifiers.org/clinvar/24334 ^@ NM_000495.4(COL4A5):c.875G>T (p.Gly292Val) http://identifiers.org/clinvar/24335 ^@ NM_000495.4(COL4A5):c.875delG (p.Gly292Glufs) http://identifiers.org/clinvar/24336 ^@ NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp) http://identifiers.org/clinvar/24337 ^@ NM_000495.4(COL4A5):c.891+1G>A http://identifiers.org/clinvar/24338 ^@ NM_000495.4(COL4A5):c.892-2A>G http://identifiers.org/clinvar/24339 ^@ NM_000495.4(COL4A5):c.892-1G>C http://identifiers.org/clinvar/24340 ^@ NM_000495.4(COL4A5):c.892G>A (p.Gly298Ser) http://identifiers.org/clinvar/24341 ^@ NM_000495.4(COL4A5):c.913G>T (p.Glu305Ter) http://identifiers.org/clinvar/24342 ^@ NM_000495.4(COL4A5):c.920G>A (p.Gly307Asp) http://identifiers.org/clinvar/24343 ^@ NM_000495.4(COL4A5):c.928G>A (p.Gly310Arg) http://identifiers.org/clinvar/24344 ^@ NM_000495.4(COL4A5):c.937-1G>A http://identifiers.org/clinvar/24345 ^@ NM_000495.4(COL4A5):c.937-?_990+?del (p.Gly313_Lys330del) http://identifiers.org/clinvar/24346 ^@ NM_000495.4(COL4A5):c.937G>A (p.Gly313Ser) http://identifiers.org/clinvar/24347 ^@ NM_000495.4(COL4A5):c.945dupT (p.Gly316Trpfs) http://identifiers.org/clinvar/24348 ^@ NM_000495.4(COL4A5):c.955G>C (p.Gly319Arg) http://identifiers.org/clinvar/24349 ^@ NM_000495.4(COL4A5):c.956G>A (p.Gly319Asp) http://identifiers.org/clinvar/24350 ^@ NM_000495.4(COL4A5):c.960C>A (p.Tyr320Ter) http://identifiers.org/clinvar/24351 ^@ NM_000495.4(COL4A5):c.970C>T (p.Pro324Ser) http://identifiers.org/clinvar/24352 ^@ NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg) http://identifiers.org/clinvar/24353 ^@ NM_000495.4(COL4A5):c.973G>T (p.Gly325Ter) http://identifiers.org/clinvar/24354 ^@ NM_000495.4(COL4A5):c.992G>T (p.Gly331Val) http://identifiers.org/clinvar/24355 ^@ NM_000495.4(COL4A5):c.1001G>T (p.Gly334Val) http://identifiers.org/clinvar/24356 ^@ NM_000495.4(COL4A5):c.1032+3_1032+6delAAGT http://identifiers.org/clinvar/24357 ^@ NM_000495.4(COL4A5):c.1032+5G>T http://identifiers.org/clinvar/24358 ^@ NM_000495.4(COL4A5):c.1033-15delT http://identifiers.org/clinvar/24359 ^@ NM_000495.4(COL4A5):c.1033-?_1516+?del http://identifiers.org/clinvar/24360 ^@ NM_000495.4(COL4A5):c.1060dupA (p.Thr354Asnfs) http://identifiers.org/clinvar/24361 ^@ NM_000495.4(COL4A5):c.1062dupT (p.Ile355Tyrfs) http://identifiers.org/clinvar/24362 ^@ NM_000495.4(COL4A5):c.1074delA (p.Gly359Glufs) http://identifiers.org/clinvar/24363 ^@ NM_000495.4(COL4A5):c.1084G>A (p.Gly362Arg) http://identifiers.org/clinvar/24364 ^@ NM_000495.4(COL4A5):c.1094G>A (p.Gly365Glu) http://identifiers.org/clinvar/24365 ^@ NM_000495.4(COL4A5):c.1095G>C (p.Gly365=) http://identifiers.org/clinvar/24366 ^@ NM_000495.4(COL4A5):c.1112G>A (p.Gly371Glu) http://identifiers.org/clinvar/24367 ^@ NM_000495.4(COL4A5):c.1117C>T (p.Arg373Ter) http://identifiers.org/clinvar/24368 ^@ NM_000495.4(COL4A5):c.1121G>C (p.Gly374Ala) http://identifiers.org/clinvar/24369 ^@ NM_000495.4(COL4A5):c.1139G>A (p.Gly380Asp) http://identifiers.org/clinvar/24370 ^@ NM_000495.4(COL4A5):c.1148G>A (p.Gly383Asp) http://identifiers.org/clinvar/24371 ^@ NM_000495.4(COL4A5):c.1165+1G>A http://identifiers.org/clinvar/24372 ^@ NM_000495.4(COL4A5):c.1165+2T>G http://identifiers.org/clinvar/24373 ^@ NM_000495.4(COL4A5):c.1166-?_1423+?del http://identifiers.org/clinvar/24374 ^@ NM_000495.4(COL4A5):c.1166-?_1516+?del http://identifiers.org/clinvar/24375 ^@ NM_000495.4(COL4A5):c.1166-?_2041+?del http://identifiers.org/clinvar/24376 ^@ NM_000495.4(COL4A5):c.1181delG (p.Gly394Valfs) http://identifiers.org/clinvar/24377 ^@ NM_000495.4(COL4A5):c.1191C>G (p.Gly397=) http://identifiers.org/clinvar/24378 ^@ NM_000495.4(COL4A5):c.1199G>A (p.Gly400Glu) http://identifiers.org/clinvar/24379 ^@ NM_000495.4(COL4A5):c.1208G>T (p.Gly403Val) http://identifiers.org/clinvar/24380 ^@ NM_000495.4(COL4A5):c.1213dupA (p.Arg405Lysfs) http://identifiers.org/clinvar/24381 ^@ NM_000495.4(COL4A5):c.1214_1215insA (p.Gln407Serfs) http://identifiers.org/clinvar/24382 ^@ NP_203699.1:p.Gly406fs http://identifiers.org/clinvar/24383 ^@ NM_000495.4(COL4A5):c.1217G>T (p.Gly406Val) http://identifiers.org/clinvar/24384 ^@ NM_000495.4(COL4A5):c.1219C>T (p.Gln407Ter) http://identifiers.org/clinvar/24385 ^@ NM_000495.4(COL4A5):c.1222A>T (p.Lys408Ter) http://identifiers.org/clinvar/24386 ^@ NM_000495.4(COL4A5):c.1226G>A (p.Gly409Asp) http://identifiers.org/clinvar/24387 ^@ NM_000495.4(COL4A5):c.1235G>T (p.Gly412Val) http://identifiers.org/clinvar/24388 ^@ NM_000495.4(COL4A5):c.1243G>A (p.Gly415Arg) http://identifiers.org/clinvar/24389 ^@ NM_000495.4(COL4A5):c.1254delT (p.Pro419Leufs) http://identifiers.org/clinvar/24390 ^@ NM_000495.4(COL4A5):c.1259G>A (p.Gly420Glu) http://identifiers.org/clinvar/24391 ^@ NM_000495.4(COL4A5):c.1265delC (p.Pro422Leufs) http://identifiers.org/clinvar/24392 ^@ NM_000495.4(COL4A5):c.1268G>A (p.Gly423Glu) http://identifiers.org/clinvar/24393 ^@ NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg) http://identifiers.org/clinvar/24394 ^@ NM_000495.4(COL4A5):c.1280dupA (p.Pro428Alafs) http://identifiers.org/clinvar/24395 ^@ NM_000495.4(COL4A5):c.1286G>A (p.Gly429Glu) http://identifiers.org/clinvar/24396 ^@ NP_203699.1:p.Ala430fs http://identifiers.org/clinvar/24397 ^@ NM_000495.4(COL4A5):c.1294G>A (p.Gly432Arg) http://identifiers.org/clinvar/24398 ^@ NM_000495.4(COL4A5):c.1331T>G (p.Ile444Ser) http://identifiers.org/clinvar/24399 ^@ NM_000495.4(COL4A5):c.1340-2A>G http://identifiers.org/clinvar/24400 ^@ NM_000495.4(COL4A5):c.1350_1351delAT (p.Ile450Metfs) http://identifiers.org/clinvar/24401 ^@ 1567del9 http://identifiers.org/clinvar/24403 ^@ NM_000495.4(COL4A5):c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del) http://identifiers.org/clinvar/24404 ^@ NM_000495.4(COL4A5):c.1376delC (p.Pro459Glnfs) http://identifiers.org/clinvar/24405 ^@ NM_000495.4(COL4A5):c.1376dupC (p.Gly460Argfs) http://identifiers.org/clinvar/24406 ^@ NM_000495.4(COL4A5):c.1397G>A (p.Gly466Glu) http://identifiers.org/clinvar/24407 ^@ NM_000495.4(COL4A5):c.1406G>A (p.Gly469Glu) http://identifiers.org/clinvar/24408 ^@ NM_000495.4(COL4A5):c.1414G>A (p.Gly472Arg) http://identifiers.org/clinvar/24409 ^@ NM_000495.4(COL4A5):c.1423G>A (p.Gly475Ser) http://identifiers.org/clinvar/24410 ^@ NM_000495.4(COL4A5):c.1423+1G>A http://identifiers.org/clinvar/24411 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24412 ^@ NM_000495.4(COL4A5):c.1424-20T>A http://identifiers.org/clinvar/24413 ^@ NM_000495.4(COL4A5):c.1424-1G>A http://identifiers.org/clinvar/24414 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24415 ^@ NM_000495.4(COL4A5):c.1472G>A (p.Gly491Glu) http://identifiers.org/clinvar/24416 ^@ NM_000495.4(COL4A5):c.1481G>A (p.Gly494Asp) http://identifiers.org/clinvar/24417 ^@ 1685del36 http://identifiers.org/clinvar/24418 ^@ NM_000495.4(COL4A5):c.1489G>T (p.Gly497Cys) http://identifiers.org/clinvar/24419 ^@ NM_000495.4(COL4A5):c.1498G>C (p.Gly500Arg) http://identifiers.org/clinvar/24420 ^@ NM_000495.4(COL4A5):c.1516+1G>A http://identifiers.org/clinvar/24421 ^@ NM_000495.4(COL4A5):c.1517-1G>T http://identifiers.org/clinvar/24422 ^@ NM_000495.4(COL4A5):c.1562G>A (p.Gly521Asp) http://identifiers.org/clinvar/24423 ^@ NM_000495.4(COL4A5):c.1566delA (p.Thr523Leufs) http://identifiers.org/clinvar/24424 ^@ NM_000495.4(COL4A5):c.1571G>A (p.Gly524Asp) http://identifiers.org/clinvar/24425 ^@ NP_203699.1:p.Leu528fs http://identifiers.org/clinvar/24426 ^@ NM_000495.4(COL4A5):c.1587+1delG http://identifiers.org/clinvar/24427 ^@ NM_000495.4(COL4A5):c.1587+1G>A http://identifiers.org/clinvar/24428 ^@ NM_000495.4(COL4A5):c.1598G>A (p.Gly533Glu) http://identifiers.org/clinvar/24429 ^@ NM_000495.4(COL4A5):c.1607G>A (p.Gly536Asp) http://identifiers.org/clinvar/24430 ^@ NM_000495.4(COL4A5):c.1633G>C (p.Gly545Arg) http://identifiers.org/clinvar/24431 ^@ NM_000495.4(COL4A5):c.1634G>T (p.Gly545Val) http://identifiers.org/clinvar/24432 ^@ NM_000495.4(COL4A5):c.1643G>A (p.Gly548Asp) http://identifiers.org/clinvar/24433 ^@ NM_000495.4(COL4A5):c.1653delC (p.Thr552Leufs) http://identifiers.org/clinvar/24434 ^@ NM_000495.4(COL4A5):c.1672G>C (p.Gly558Arg) http://identifiers.org/clinvar/24435 ^@ NM_000495.4(COL4A5):c.1681G>A (p.Gly561Arg) http://identifiers.org/clinvar/24436 ^@ NM_000495.4(COL4A5):c.1690G>T (p.Gly564Cys) http://identifiers.org/clinvar/24437 ^@ NM_000495.4(COL4A5):c.1700G>C (p.Gly567Ala) http://identifiers.org/clinvar/24438 ^@ NM_000495.4(COL4A5):c.1718G>A (p.Gly573Asp) http://identifiers.org/clinvar/24439 ^@ NM_000495.4(COL4A5):c.1726G>A (p.Gly576Ser) http://identifiers.org/clinvar/24440 ^@ NM_000495.4(COL4A5):c.1735G>A (p.Gly579Arg) http://identifiers.org/clinvar/24441 ^@ NM_000495.4(COL4A5):c.1736G>A (p.Gly579Glu) http://identifiers.org/clinvar/24442 ^@ NM_000495.4(COL4A5):c.1738C>T (p.Gln580Ter) http://identifiers.org/clinvar/24443 ^@ NM_000495.4(COL4A5):c.1739_1948+98del http://identifiers.org/clinvar/24444 ^@ NM_000495.4(COL4A5):c.1757_1770delTTCCTGGCCCGAAA (p.Leu586Argfs) http://identifiers.org/clinvar/24445 ^@ NM_000495.4(COL4A5):c.1779+1G>T http://identifiers.org/clinvar/24446 ^@ NM_000495.4(COL4A5):c.1779+3G>C http://identifiers.org/clinvar/24447 ^@ NM_000495.4(COL4A5):c.1780-1G>A http://identifiers.org/clinvar/24448 ^@ NM_000495.4(COL4A5):c.1780G>A (p.Gly594Ser) http://identifiers.org/clinvar/24449 ^@ NM_000495.4(COL4A5):c.1783G>A (p.Gly595Arg) http://identifiers.org/clinvar/24450 ^@ NM_000495.4(COL4A5):c.1808G>T (p.Gly603Val) http://identifiers.org/clinvar/24451 ^@ NM_000495.4(COL4A5):c.1825G>C (p.Gly609Arg) http://identifiers.org/clinvar/24452 ^@ NM_000495.4(COL4A5):c.1826G>T (p.Gly609Val) http://identifiers.org/clinvar/24453 ^@ NM_000495.4(COL4A5):c.1856C>T (p.Pro619Leu) http://identifiers.org/clinvar/24454 ^@ NM_000495.4(COL4A5):c.1861G>T (p.Gly621Cys) http://identifiers.org/clinvar/24455 ^@ NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp) http://identifiers.org/clinvar/24456 ^@ NM_000495.4(COL4A5):c.1877G>C (p.Gly626Ala) http://identifiers.org/clinvar/24457 ^@ NM_000495.4(COL4A5):c.1886G>A (p.Gly629Asp) http://identifiers.org/clinvar/24458 ^@ NM_000495.4(COL4A5):c.1895G>A (p.Gly632Asp) http://identifiers.org/clinvar/24459 ^@ NM_000495.4(COL4A5):c.1897G>A (p.Glu633Lys) http://identifiers.org/clinvar/24460 ^@ NM_000495.4(COL4A5):c.1904G>A (p.Gly635Asp) http://identifiers.org/clinvar/24461 ^@ NM_000495.4(COL4A5):c.1912G>A (p.Gly638Ser) http://identifiers.org/clinvar/24462 ^@ NM_000495.4(COL4A5):c.1913G>C (p.Gly638Ala) http://identifiers.org/clinvar/24463 ^@ NM_000495.4(COL4A5):c.1913G>T (p.Gly638Val) http://identifiers.org/clinvar/24464 ^@ NM_000495.4(COL4A5):c.1948+1G>A http://identifiers.org/clinvar/24466 ^@ NM_000495.4(COL4A5):c.1949-?_3373+?del http://identifiers.org/clinvar/24467 ^@ NM_000495.4(COL4A5):c.1957G>A (p.Gly653Arg) http://identifiers.org/clinvar/24468 ^@ NM_000495.4(COL4A5):c.1960delG (p.Asp654Ilefs) http://identifiers.org/clinvar/24469 ^@ NM_000495.4(COL4A5):c.1992G>T (p.Lys664Asn) http://identifiers.org/clinvar/24470 ^@ NM_000495.4(COL4A5):c.1997G>A (p.Gly666Asp) http://identifiers.org/clinvar/24471 ^@ NM_000495.4(COL4A5):c.2005G>C (p.Gly669Arg) http://identifiers.org/clinvar/24472 ^@ NM_000495.4(COL4A5):c.2006G>C (p.Gly669Ala) http://identifiers.org/clinvar/24473 ^@ NM_000495.4(COL4A5):c.2018delG (p.Arg673Lysfs) http://identifiers.org/clinvar/24474 ^@ NM_000495.4(COL4A5):c.2023G>A (p.Gly675Ser) http://identifiers.org/clinvar/24475 ^@ NM_000495.4(COL4A5):c.2041+1G>T http://identifiers.org/clinvar/24477 ^@ NM_000495.4(COL4A5):c.2042-18A>G http://identifiers.org/clinvar/24478 ^@ NM_000495.4(COL4A5):c.2042G>A (p.Gly681Asp) http://identifiers.org/clinvar/24479 ^@ NM_000495.4(COL4A5):c.2050G>T (p.Gly684Ter) http://identifiers.org/clinvar/24480 ^@ NM_000495.4(COL4A5):c.2051G>T (p.Gly684Val) http://identifiers.org/clinvar/24481 ^@ NM_000495.4(COL4A5):c.2055T>C (p.Leu685=) http://identifiers.org/clinvar/24482 ^@ NM_000495.4(COL4A5):c.2057delC (p.Pro686Glnfs) http://identifiers.org/clinvar/24483 ^@ NM_000495.4(COL4A5):c.2060G>A (p.Gly687Glu) http://identifiers.org/clinvar/24484 ^@ NM_000495.4(COL4A5):c.2062_2114dup53 (p.Ile706Asnfs) http://identifiers.org/clinvar/24485 ^@ NM_000495.4(COL4A5):c.2098G>T (p.Glu700Ter) http://identifiers.org/clinvar/24486 ^@ NM_000495.4(COL4A5):c.2107A>G (p.Ile703Val) http://identifiers.org/clinvar/24487 ^@ NM_000495.4(COL4A5):c.2146G>C (p.Gly716Arg) http://identifiers.org/clinvar/24488 ^@ NM_000495.4(COL4A5):c.2146+3A>C http://identifiers.org/clinvar/24489 ^@ NM_000495.4(COL4A5):c.2147-3C>G http://identifiers.org/clinvar/24490 ^@ NM_000495.4(COL4A5):c.2147-2A>G http://identifiers.org/clinvar/24491 ^@ NM_000495.4(COL4A5):c.2147delG (p.Gly716Alafs) http://identifiers.org/clinvar/24492 ^@ NM_000495.4(COL4A5):c.2147-?_2767+?dup621 http://identifiers.org/clinvar/24493 ^@ NM_000495.4(COL4A5):c.2155G>C (p.Gly719Arg) http://identifiers.org/clinvar/24494 ^@ NM_000495.4(COL4A5):c.2165G>A (p.Gly722Glu) http://identifiers.org/clinvar/24495 ^@ NM_000495.4(COL4A5):c.2206_2226del21 (p.Glu736_Pro742del) http://identifiers.org/clinvar/24496 ^@ NM_000495.4(COL4A5):c.2215C>T (p.Pro739Ser) http://identifiers.org/clinvar/24497 ^@ NM_000495.4(COL4A5):c.2219G>A (p.Gly740Glu) http://identifiers.org/clinvar/24498 ^@ NM_000495.4(COL4A5):c.2228G>A (p.Gly743Asp) http://identifiers.org/clinvar/24499 ^@ NM_000495.4(COL4A5):c.2244+1G>T http://identifiers.org/clinvar/24500 ^@ NM_000495.4(COL4A5):c.2244+2T>G http://identifiers.org/clinvar/24501 ^@ NM_000495.4(COL4A5):c.2245-1G>A http://identifiers.org/clinvar/24502 ^@ NM_000495.4(COL4A5):c.2287G>A (p.Gly763Arg) http://identifiers.org/clinvar/24503 ^@ NM_000495.4(COL4A5):c.2288G>A (p.Gly763Glu) http://identifiers.org/clinvar/24504 ^@ NM_000495.4(COL4A5):c.2297G>A (p.Gly766Asp) http://identifiers.org/clinvar/24505 ^@ NM_000495.4(COL4A5):c.2305G>A (p.Gly769Arg) http://identifiers.org/clinvar/24506 ^@ NM_000495.4(COL4A5):c.2315G>A (p.Gly772Asp) http://identifiers.org/clinvar/24507 ^@ NM_000495.4(COL4A5):c.2315G>C (p.Gly772Ala) http://identifiers.org/clinvar/24508 ^@ NM_000495.4(COL4A5):c.2322dupA (p.Gly775Argfs) http://identifiers.org/clinvar/24509 ^@ NM_000495.4(COL4A5):c.2332G>A (p.Gly778Ser) http://identifiers.org/clinvar/24510 ^@ NM_000495.4(COL4A5):c.2348delC (p.Pro783Argfs) http://identifiers.org/clinvar/24511 ^@ NM_000495.4(COL4A5):c.2349G>A (p.Pro783=) http://identifiers.org/clinvar/24512 ^@ NM_000495.4(COL4A5):c.2360G>T (p.Gly787Val) http://identifiers.org/clinvar/24513 ^@ NM_000495.4(COL4A5):c.2386G>A (p.Gly796Arg) http://identifiers.org/clinvar/24514 ^@ NM_000495.4(COL4A5):c.2394A>G (p.Lys798=) http://identifiers.org/clinvar/24515 ^@ NM_000495.4(COL4A5):c.2395+2delT http://identifiers.org/clinvar/24516 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24517 ^@ 2606-2623del http://identifiers.org/clinvar/24518 ^@ NM_000495.4(COL4A5):c.2404G>A (p.Gly802Arg) http://identifiers.org/clinvar/24519 ^@ NM_000495.4(COL4A5):c.2423G>A (p.Gly808Glu) http://identifiers.org/clinvar/24520 ^@ NM_000495.4(COL4A5):c.2431G>A (p.Gly811Arg) http://identifiers.org/clinvar/24521 ^@ NM_000495.4(COL4A5):c.2432G>T (p.Gly811Val) http://identifiers.org/clinvar/24523 ^@ NP_203699.1:p.Ile818fs http://identifiers.org/clinvar/24525 ^@ NM_000495.4(COL4A5):c.2464G>C (p.Gly822Arg) http://identifiers.org/clinvar/24526 ^@ NM_000495.4(COL4A5):c.2473G>T (p.Gly825Ter) http://identifiers.org/clinvar/24527 ^@ NM_000495.4(COL4A5):c.2475_2483delACCACCAGG (p.Pro826_Gly828del) http://identifiers.org/clinvar/24528 ^@ NM_000495.4(COL4A5):c.2476delC (p.Pro826Hisfs) http://identifiers.org/clinvar/24529 ^@ NM_000495.4(COL4A5):c.2500G>C (p.Gly834Arg) http://identifiers.org/clinvar/24530 ^@ NM_000495.4(COL4A5):c.2509G>A http://identifiers.org/clinvar/24531 ^@ NM_000495.4(COL4A5):c.2510-33A>G http://identifiers.org/clinvar/24532 ^@ NM_000495.4(COL4A5):c.2510delG (p.Gly837Valfs) http://identifiers.org/clinvar/24534 ^@ COL4A5:c.2510-?_2677+?del (p.Gly837_Gly893delinsGly) http://identifiers.org/clinvar/24535 ^@ NM_000495.4(COL4A5):c.2550_2573del24 (p.Leu853_Gly860del) http://identifiers.org/clinvar/24536 ^@ NM_000495.4(COL4A5):c.2554G>A (p.Gly852Arg) http://identifiers.org/clinvar/24537 ^@ NM_000495.4(COL4A5):c.2555G>A (p.Gly852Glu) http://identifiers.org/clinvar/24538 ^@ NM_000495.4(COL4A5):c.2578G>C (p.Gly860Arg) http://identifiers.org/clinvar/24539 ^@ 2791del36 http://identifiers.org/clinvar/24540 ^@ NM_000495.4(COL4A5):c.2595_2612del18 (p.Ile867_Gly872del) http://identifiers.org/clinvar/24541 ^@ NM_000495.4(COL4A5):c.2597G>A (p.Gly866Glu) http://identifiers.org/clinvar/24542 ^@ NM_000495.4(COL4A5):c.2643delG (p.Leu882Phefs) http://identifiers.org/clinvar/24543 ^@ NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg) http://identifiers.org/clinvar/24544 ^@ NM_000495.4(COL4A5):c.2614G>C (p.Gly872Arg) http://identifiers.org/clinvar/24545 ^@ NM_000495.4(COL4A5):c.2624G>A (p.Gly875Glu) http://identifiers.org/clinvar/24546 ^@ NM_000495.4(COL4A5):c.2625delA (p.Pro876Leufs) http://identifiers.org/clinvar/24547 ^@ NM_000495.4(COL4A5):c.2633G>T (p.Gly878Val) http://identifiers.org/clinvar/24548 ^@ NM_000495.4(COL4A5):c.2659G>C (p.Gly887Arg) http://identifiers.org/clinvar/24549 ^@ NM_000495.4(COL4A5):c.2660G>T (p.Gly887Val) http://identifiers.org/clinvar/24550 ^@ NM_000495.4(COL4A5):c.2678-10T>G http://identifiers.org/clinvar/24552 ^@ NM_000495.4(COL4A5):c.2678-?_3246+?del http://identifiers.org/clinvar/24553 ^@ NM_000495.4(COL4A5):c.2686delG (p.Gly896Valfs) http://identifiers.org/clinvar/24554 ^@ NM_000495.4(COL4A5):c.2692A>G (p.Met898Val) http://identifiers.org/clinvar/24555 ^@ NM_000495.4(COL4A5):c.2705G>A (p.Gly902Glu) http://identifiers.org/clinvar/24556 ^@ NM_000495.4(COL4A5):c.2708dupC (p.Pro904Serfs) http://identifiers.org/clinvar/24557 ^@ NM_000495.4(COL4A5):c.2722G>A (p.Gly908Arg) http://identifiers.org/clinvar/24558 ^@ NM_000495.4(COL4A5):c.2731G>A (p.Gly911Arg) http://identifiers.org/clinvar/24559 ^@ NM_000495.4(COL4A5):c.2732G>A (p.Gly911Glu) http://identifiers.org/clinvar/24560 ^@ NP_203699.1:p.Ser916fs http://identifiers.org/clinvar/24561 ^@ NM_000495.4(COL4A5):c.2746A>G (p.Ser916Gly) http://identifiers.org/clinvar/24562 ^@ NM_000495.4(COL4A5):c.2767+2delT http://identifiers.org/clinvar/24563 ^@ NM_000495.4(COL4A5):c.2768-11A>G http://identifiers.org/clinvar/24564 ^@ NM_000495.4(COL4A5):c.2782C>T (p.Gln928Ter) http://identifiers.org/clinvar/24565 ^@ NM_000495.4(COL4A5):c.2788C>T (p.Gln930Ter) http://identifiers.org/clinvar/24566 ^@ NM_000495.4(COL4A5):c.2802dupT (p.Gly935Trpfs) http://identifiers.org/clinvar/24567 ^@ NM_000495.4(COL4A5):c.2804G>A (p.Gly935Asp) http://identifiers.org/clinvar/24568 ^@ NM_000495.4(COL4A5):c.2821G>T (p.Gly941Cys) http://identifiers.org/clinvar/24569 ^@ NM_000495.4(COL4A5):c.2823_2825delTAG (p.Ser942del) http://identifiers.org/clinvar/24570 ^@ NM_000495.4(COL4A5):c.2840G>A (p.Gly947Asp) http://identifiers.org/clinvar/24571 ^@ NM_000495.4(COL4A5):c.2846delC (p.Pro949Glnfs) http://identifiers.org/clinvar/24573 ^@ NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) http://identifiers.org/clinvar/24574 ^@ NM_000495.4(COL4A5):c.2917+1G>C http://identifiers.org/clinvar/24575 ^@ NM_000495.4(COL4A5):c.2917+1G>T http://identifiers.org/clinvar/24576 ^@ NM_000495.4(COL4A5):c.2918-1G>T http://identifiers.org/clinvar/24578 ^@ NP_203699.1:p.Val977fs http://identifiers.org/clinvar/24579 ^@ NM_000495.4(COL4A5):c.2943delA (p.Gly982Valfs) http://identifiers.org/clinvar/24580 ^@ NM_000495.4(COL4A5):c.2959_2976del18 (p.Asp989_Gly994del) http://identifiers.org/clinvar/24581 ^@ NM_000495.4(COL4A5):c.2965delG (p.Asp989Thrfs) http://identifiers.org/clinvar/24582 ^@ NM_000495.4(COL4A5):c.2999G>T (p.Gly1000Val) http://identifiers.org/clinvar/24583 ^@ NM_000495.4(COL4A5):c.3016+1G>T http://identifiers.org/clinvar/24584 ^@ NM_000495.4(COL4A5):c.3017-1G>A http://identifiers.org/clinvar/24585 ^@ NM_000495.4(COL4A5):c.3017G>T (p.Gly1006Val) http://identifiers.org/clinvar/24587 ^@ NM_000495.4(COL4A5):c.3044G>T (p.Gly1015Val) http://identifiers.org/clinvar/24588 ^@ NM_000495.4(COL4A5):c.3046C>T (p.Gln1016Ter) http://identifiers.org/clinvar/24589 ^@ NM_000495.4(COL4A5):c.3057delT (p.Ile1020Terfs) http://identifiers.org/clinvar/24590 ^@ NM_000495.4(COL4A5):c.3080G>T (p.Gly1027Val) http://identifiers.org/clinvar/24591 ^@ NM_000495.4(COL4A5):c.3088G>A (p.Gly1030Ser) http://identifiers.org/clinvar/24592 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24593 ^@ NM_000495.4(COL4A5):c.3107-2A>G http://identifiers.org/clinvar/24594 ^@ NM_000495.4(COL4A5):c.3107G>T (p.Gly1036Val) http://identifiers.org/clinvar/24595 ^@ NM_000495.4(COL4A5):c.3115G>A (p.Gly1039Ser) http://identifiers.org/clinvar/24596 ^@ NM_000495.4(COL4A5):c.3134G>A (p.Gly1045Glu) http://identifiers.org/clinvar/24597 ^@ NM_000495.4(COL4A5):c.3167delC (p.Pro1056Glnfs) http://identifiers.org/clinvar/24598 ^@ NM_000495.4(COL4A5):c.3169G>T (p.Gly1057Ter) http://identifiers.org/clinvar/24599 ^@ NM_000495.4(COL4A5):c.3178G>T (p.Gly1060Ter) http://identifiers.org/clinvar/24600 ^@ NM_000495.4(COL4A5):c.3181C>T (p.Gln1061Ter) http://identifiers.org/clinvar/24601 ^@ NM_000495.4(COL4A5):c.3188G>T (p.Gly1063Val) http://identifiers.org/clinvar/24602 ^@ NM_000495.4(COL4A5):c.3196G>C (p.Gly1066Arg) http://identifiers.org/clinvar/24603 ^@ NM_000495.4(COL4A5):c.3196G>A (p.Gly1066Ser) http://identifiers.org/clinvar/24604 ^@ NM_000495.4(COL4A5):c.3197G>C (p.Gly1066Ala) http://identifiers.org/clinvar/24605 ^@ NM_000495.4(COL4A5):c.3206G>T (p.Gly1069Val) http://identifiers.org/clinvar/24606 ^@ NM_000495.4(COL4A5):c.3212C>G (p.Ser1071Ter) http://identifiers.org/clinvar/24607 ^@ NM_000495.4(COL4A5):c.3247G>A (p.Gly1083Ser) http://identifiers.org/clinvar/24608 ^@ NM_000495.3(COL4A5):c.(?_3247)_(3373_?)del (p.(?)) http://identifiers.org/clinvar/24610 ^@ NM_000495.4(COL4A5):c.3247-?_5058+?del http://identifiers.org/clinvar/24611 ^@ NM_000495.3(COL4A5):c.(?_3247)_(3373_?)del (p.(?)) http://identifiers.org/clinvar/24612 ^@ NM_000495.4(COL4A5):c.3255T>A (p.Pro1085=) http://identifiers.org/clinvar/24613 ^@ NM_000495.4(COL4A5):c.3256G>C (p.Gly1086Arg) http://identifiers.org/clinvar/24614 ^@ NM_000495.4(COL4A5):c.3257G>A (p.Gly1086Asp) http://identifiers.org/clinvar/24615 ^@ NM_000495.4(COL4A5):c.3289A>T (p.Lys1097Ter) http://identifiers.org/clinvar/24616 ^@ NM_000495.4(COL4A5):c.3311G>T (p.Gly1104Val) http://identifiers.org/clinvar/24617 ^@ NM_000495.4(COL4A5):c.3319G>A (p.Gly1107Arg) http://identifiers.org/clinvar/24618 ^@ NM_000495.4(COL4A5):c.3326_3327insT (p.Gly1110Argfs) http://identifiers.org/clinvar/24619 ^@ NM_000495.4(COL4A5):c.3331delA (p.Thr1111Profs) http://identifiers.org/clinvar/24620 ^@ NM_000495.4(COL4A5):c.3334_3337dupCCTG (p.Gly1113Alafs) http://identifiers.org/clinvar/24621 ^@ NM_000495.4(COL4A5):c.3347G>T (p.Gly1116Val) http://identifiers.org/clinvar/24622 ^@ NM_000495.4(COL4A5):c.3373+1G>A http://identifiers.org/clinvar/24623 ^@ NM_000495.4(COL4A5):c.3374-11C>A http://identifiers.org/clinvar/24624 ^@ NM_000495.4(COL4A5):c.3374-?_3790+?del http://identifiers.org/clinvar/24626 ^@ NM_000495.3(COL4A5):c.3374-?_5058+?del http://identifiers.org/clinvar/24627 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24628 ^@ NM_033380.2(COL4A5):c.3403_3418del16ins3 (p.Ile1135fs) http://identifiers.org/clinvar/24629 ^@ NM_000495.4(COL4A5):c.3413delC (p.Pro1138Leufs) http://identifiers.org/clinvar/24630 ^@ NM_000495.4(COL4A5):c.3427G>A (p.Gly1143Ser) http://identifiers.org/clinvar/24632 ^@ NM_000495.4(COL4A5):c.3454+1G>T http://identifiers.org/clinvar/24633 ^@ NM_000495.4(COL4A5):c.3455-9A>G http://identifiers.org/clinvar/24634 ^@ NM_000495.4(COL4A5):c.3472G>T (p.Gly1158Trp) http://identifiers.org/clinvar/24635 ^@ NM_000495.4(COL4A5):c.3474delG (p.Gln1159Asnfs) http://identifiers.org/clinvar/24636 ^@ NM_000495.4(COL4A5):c.3481G>A (p.Gly1161Arg) http://identifiers.org/clinvar/24637 ^@ NM_000495.4(COL4A5):c.3499G>A (p.Gly1167Ser) http://identifiers.org/clinvar/24638 ^@ NM_000495.4(COL4A5):c.3508G>A (p.Gly1170Ser) http://identifiers.org/clinvar/24639 ^@ NM_000495.4(COL4A5):c.3509delG (p.Gly1170Valfs) http://identifiers.org/clinvar/24640 ^@ NM_000495.4(COL4A5):c.3513A>G (p.Gln1171=) http://identifiers.org/clinvar/24641 ^@ NM_000495.4(COL4A5):c.3527delG (p.Gly1176Aspfs) http://identifiers.org/clinvar/24642 ^@ NM_000495.4(COL4A5):c.3535G>A (p.Gly1179Arg) http://identifiers.org/clinvar/24643 ^@ NM_000495.4(COL4A5):c.3538C>T (p.Gln1180Ter) http://identifiers.org/clinvar/24644 ^@ NM_000495.4(COL4A5):c.3543_3549delGGGTGAA (p.Lys1181Asnfs) http://identifiers.org/clinvar/24645 ^@ NM_000495.4(COL4A5):c.3544G>C (p.Gly1182Arg) http://identifiers.org/clinvar/24646 ^@ NM_000495.4(COL4A5):c.3554-9C>G http://identifiers.org/clinvar/24647 ^@ NM_000495.4(COL4A5):c.3554-3C>G http://identifiers.org/clinvar/24648 ^@ NM_000495.4(COL4A5):c.3554-1G>A http://identifiers.org/clinvar/24649 ^@ COL4A5:c.3554-?_3604+?del (p.?) http://identifiers.org/clinvar/24650 ^@ NM_000495.4(COL4A5):c.3582C>T (p.Pro1194=) http://identifiers.org/clinvar/24651 ^@ NM_000495.4(COL4A5):c.3586G>A (p.Gly1196Arg) http://identifiers.org/clinvar/24652 ^@ NM_000495.4(COL4A5):c.3587G>A (p.Gly1196Glu) http://identifiers.org/clinvar/24653 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24654 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24655 ^@ NM_000495.4(COL4A5):c.3605-2A>G http://identifiers.org/clinvar/24656 ^@ NM_000495.4(COL4A5):c.3605-1G>A http://identifiers.org/clinvar/24657 ^@ NM_000495.3(COL4A5):c.3605-?_5058+?del http://identifiers.org/clinvar/24658 ^@ NM_000495.4(COL4A5):c.3613G>T (p.Gly1205Cys) http://identifiers.org/clinvar/24659 ^@ NM_000495.4(COL4A5):c.3613G>A (p.Gly1205Ser) http://identifiers.org/clinvar/24660 ^@ NP_203699.1:p.Asp1206fs http://identifiers.org/clinvar/24661 ^@ NM_000495.4(COL4A5):c.3631G>C (p.Gly1211Arg) http://identifiers.org/clinvar/24662 ^@ NM_000495.4(COL4A5):c.3632G>A (p.Gly1211Glu) http://identifiers.org/clinvar/24663 ^@ NM_000495.4(COL4A5):c.3641G>A (p.Gly1214Glu) http://identifiers.org/clinvar/24664 ^@ NM_000495.4(COL4A5):c.3647delC (p.Pro1216Leufs) http://identifiers.org/clinvar/24665 ^@ NM_000495.4(COL4A5):c.3657_3728del72 (p.Lys1222_Pro1245del) http://identifiers.org/clinvar/24666 ^@ NM_000495.4(COL4A5):c.3659G>A (p.Gly1220Asp) http://identifiers.org/clinvar/24667 ^@ NM_000495.4(COL4A5):c.3668G>T (p.Gly1223Val) http://identifiers.org/clinvar/24668 ^@ NM_000495.4(COL4A5):c.3686G>A (p.Gly1229Asp) http://identifiers.org/clinvar/24669 ^@ NM_000495.4(COL4A5):c.3692delC (p.Pro1231Leufs) http://identifiers.org/clinvar/24670 ^@ NM_000495.4(COL4A5):c.3692dupC (p.Gly1232Trpfs) http://identifiers.org/clinvar/24671 ^@ NM_000495.4(COL4A5):c.3694G>A (p.Gly1232Ser) http://identifiers.org/clinvar/24672 ^@ NM_000495.4(COL4A5):c.3700C>T (p.Gln1234Ter) http://identifiers.org/clinvar/24673 ^@ NM_000495.4(COL4A5):c.3706_3722del17insT (p.Pro1236Phefs) http://identifiers.org/clinvar/24674 ^@ NM_000495.4(COL4A5):c.3710_3761del52 (p.Pro1237Leufs) http://identifiers.org/clinvar/24675 ^@ NM_000495.4(COL4A5):c.3709_3710dupCC (p.Gly1238Glnfs) http://identifiers.org/clinvar/24676 ^@ NM_000495.4(COL4A5):c.3721G>T (p.Gly1241Cys) http://identifiers.org/clinvar/24677 ^@ NM_000495.4(COL4A5):c.3722G>T (p.Gly1241Val) http://identifiers.org/clinvar/24678 ^@ NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp) http://identifiers.org/clinvar/24679 ^@ NM_000495.4(COL4A5):c.3754G>A (p.Gly1252Ser) http://identifiers.org/clinvar/24680 ^@ NM_000495.4(COL4A5):c.3754_3757dupGGCA (p.Asn1253Argfs) http://identifiers.org/clinvar/24681 ^@ NM_000495.4(COL4A5):c.3763G>A (p.Gly1255Arg) http://identifiers.org/clinvar/24682 ^@ NM_000495.4(COL4A5):c.3782G>A (p.Gly1261Glu) http://identifiers.org/clinvar/24683 ^@ NM_000495.4(COL4A5):c.3790+1delG http://identifiers.org/clinvar/24684 ^@ COL4A5:c.3791-?_3924+?del (p.?) http://identifiers.org/clinvar/24685 ^@ NM_000495.4(COL4A5):c.3808G>A (p.Gly1270Ser) http://identifiers.org/clinvar/24686 ^@ NM_000495.4(COL4A5):c.3814delC (p.Pro1272Glnfs) http://identifiers.org/clinvar/24687 ^@ NM_000495.4(COL4A5):c.3866_3869dupAACC (p.Gly1291Thrfs) http://identifiers.org/clinvar/24688 ^@ NM_000495.4(COL4A5):c.3920delT (p.Leu1307Profs) http://identifiers.org/clinvar/24689 ^@ NM_000495.4(COL4A5):c.3924G>C (p.Gln1308His) http://identifiers.org/clinvar/24690 ^@ NM_033380.2(COL4A5):c.3942+1G>C (p.?) http://identifiers.org/clinvar/24691 ^@ NM_000495.4(COL4A5):c.3925-2A>G http://identifiers.org/clinvar/24692 ^@ NM_000495.4(COL4A5):c.3925-1G>A http://identifiers.org/clinvar/24693 ^@ NM_000495.4(COL4A5):c.3925-?_4069+?del http://identifiers.org/clinvar/24694 ^@ NM_000495.4(COL4A5):c.3958A>T (p.Lys1320Ter) http://identifiers.org/clinvar/24695 ^@ NM_000495.4(COL4A5):c.3992delT (p.Phe1331Serfs) http://identifiers.org/clinvar/24696 ^@ NM_000495.4(COL4A5):c.3997G>A (p.Gly1333Ser) http://identifiers.org/clinvar/24697 ^@ NM_000495.4(COL4A5):c.3998-2A>T http://identifiers.org/clinvar/24698 ^@ NM_000495.4(COL4A5):c.3998-2A>G http://identifiers.org/clinvar/24699 ^@ NM_000495.4(COL4A5):c.4006G>T (p.Gly1336Ter) http://identifiers.org/clinvar/24700 ^@ 4245del6, 4241G>A http://identifiers.org/clinvar/24701 ^@ NM_000495.4(COL4A5):c.4069G>A (p.Gly1357Ser) http://identifiers.org/clinvar/24702 ^@ NM_000495.4(COL4A5):c.4069+1G>A http://identifiers.org/clinvar/24703 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24704 ^@ NM_000495.4(COL4A5):c.4071delT (p.Pro1358Leufs) http://identifiers.org/clinvar/24705 ^@ NM_000495.4(COL4A5):c.4102_4103delAG (p.Ser1368Tyrfs) http://identifiers.org/clinvar/24706 ^@ NM_000495.4(COL4A5):c.4136G>T (p.Gly1379Val) http://identifiers.org/clinvar/24707 ^@ NM_000495.4(COL4A5):c.4147C>T (p.Gln1383Ter) http://identifiers.org/clinvar/24708 ^@ NM_000495.4(COL4A5):c.4161_4162insTCCT (p.Gly1388Serfs) http://identifiers.org/clinvar/24709 ^@ NM_000495.4(COL4A5):c.4171G>T (p.Gly1391Ter) http://identifiers.org/clinvar/24711 ^@ NM_000495.4(COL4A5):c.4177C>T (p.Gln1393Ter) http://identifiers.org/clinvar/24712 ^@ NM_000495.4(COL4A5):c.4177delC (p.Gln1393Lysfs) http://identifiers.org/clinvar/24713 ^@ NM_000495.4(COL4A5):c.4196dupC (p.Gly1400Argfs) http://identifiers.org/clinvar/24714 ^@ NM_000495.4(COL4A5):c.4199-1G>A http://identifiers.org/clinvar/24716 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24717 ^@ NM_000495.4(COL4A5):c.4214dupC (p.Gly1406Argfs) http://identifiers.org/clinvar/24718 ^@ NM_000495.4(COL4A5):c.4228C>T (p.Arg1410Cys) http://identifiers.org/clinvar/24719 ^@ NM_000495.4(COL4A5):c.4239C>T (p.Leu1413=) http://identifiers.org/clinvar/24721 ^@ NM_000495.4(COL4A5):c.4261G>T (p.Gly1421Trp) http://identifiers.org/clinvar/24722 ^@ NM_000495.4(COL4A5):c.4275C>T (p.Asp1425=) http://identifiers.org/clinvar/24723 ^@ NM_000495.4(COL4A5):c.4279G>T (p.Gly1427Cys) http://identifiers.org/clinvar/24724 ^@ NM_000495.4(COL4A5):c.4280G>T (p.Gly1427Val) http://identifiers.org/clinvar/24725 ^@ NM_000495.4(COL4A5):c.4297+1G>A http://identifiers.org/clinvar/24726 ^@ NM_033380.2(COL4A5):c.4316-1G>C (p.?) http://identifiers.org/clinvar/24727 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24728 ^@ NM_000495.4(COL4A5):c.4315_4350dup36 (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly) http://identifiers.org/clinvar/24729 ^@ NM_000495.4(COL4A5):c.4324G>C (p.Gly1442Arg) http://identifiers.org/clinvar/24730 ^@ NM_000495.4(COL4A5):c.4325_4351del27 (p.Asp1444_Pro1452del) http://identifiers.org/clinvar/24731 ^@ NM_000495.4(COL4A5):c.4351G>A (p.Gly1451Ser) http://identifiers.org/clinvar/24732 ^@ NM_000495.4(COL4A5):c.4325G>C (p.Gly1442Ala) http://identifiers.org/clinvar/24733 ^@ NM_000495.4(COL4A5):c.4325G>A (p.Gly1442Asp) http://identifiers.org/clinvar/24734 ^@ NM_000495.4(COL4A5):c.4342G>A (p.Gly1448Ser) http://identifiers.org/clinvar/24735 ^@ NM_000495.4(COL4A5):c.4344_4345insT (p.Pro1449Serfs) http://identifiers.org/clinvar/24736 ^@ NM_000495.4(COL4A5):c.4349delC (p.Pro1450Glnfs) http://identifiers.org/clinvar/24737 ^@ NM_000495.4(COL4A5):c.4436_4437delGA (p.Gly1479Aspfs) http://identifiers.org/clinvar/24738 ^@ NM_000495.4(COL4A5):c.4437delA (p.Thr1480Hisfs) http://identifiers.org/clinvar/24739 ^@ NM_000495.4(COL4A5):c.4457G>C (p.Gly1486Ala) http://identifiers.org/clinvar/24740 ^@ NM_000495.4(COL4A5):c.4463C>T (p.Ser1488Phe) http://identifiers.org/clinvar/24741 ^@ NM_000495.4(COL4A5):c.4491_4492delAG (p.Arg1497Serfs) http://identifiers.org/clinvar/24742 ^@ NM_000495.4(COL4A5):c.4493C>A (p.Ala1498Asp) http://identifiers.org/clinvar/24743 ^@ NM_000495.4(COL4A5):c.4501C>T (p.Gln1501Ter) http://identifiers.org/clinvar/24745 ^@ NM_000495.4(COL4A5):c.4510+1G>C http://identifiers.org/clinvar/24746 ^@ NM_000495.4(COL4A5):c.4513delA (p.Thr1505Argfs) http://identifiers.org/clinvar/24747 ^@ NP_203699.1:p.Thr1505fs http://identifiers.org/clinvar/24748 ^@ NM_000495.4(COL4A5):c.4532G>A (p.Arg1511His) http://identifiers.org/clinvar/24749 ^@ NM_000495.4(COL4A5):c.4549C>A (p.Pro1517Thr) http://identifiers.org/clinvar/24750 ^@ NM_000495.4(COL4A5):c.4563C>A (p.Cys1521Ter) http://identifiers.org/clinvar/24751 ^@ NM_000495.4(COL4A5):c.4613G>C (p.Trp1538Ser) http://identifiers.org/clinvar/24752 ^@ NM_000495.4(COL4A5):c.4614G>A (p.Trp1538Ter) http://identifiers.org/clinvar/24753 ^@ NM_000495.4(COL4A5):c.4675C>G (p.Pro1559Ala) http://identifiers.org/clinvar/24754 ^@ NP_203699.1:p.Ser1562fs http://identifiers.org/clinvar/24755 ^@ NM_000495.4(COL4A5):c.4687C>T (p.Arg1563Ter) http://identifiers.org/clinvar/24756 ^@ NM_000495.4(COL4A5):c.4690T>C (p.Cys1564Arg) http://identifiers.org/clinvar/24757 ^@ NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln) http://identifiers.org/clinvar/24758 ^@ NM_000495.4(COL4A5):c.4689-30_4689-9del22insCA http://identifiers.org/clinvar/24759 ^@ NM_033380.3(COL4A5):c.4707-3_4735del (p.?) http://identifiers.org/clinvar/24760 ^@ NM_000495.3(COL4A5):c.4689-?_5058+?del http://identifiers.org/clinvar/24761 ^@ NM_000495.4(COL4A5):c.4691G>C (p.Cys1564Ser) http://identifiers.org/clinvar/24762 ^@ NM_000495.4(COL4A5):c.4699T>C (p.Cys1567Arg) http://identifiers.org/clinvar/24763 ^@ NM_000495.4(COL4A5):c.4702G>A (p.Glu1568Lys) http://identifiers.org/clinvar/24764 ^@ NM_000495.4(COL4A5):c.4750_4756delCCCCATT (p.Pro1584Valfs) http://identifiers.org/clinvar/24765 ^@ NM_000495.4(COL4A5):c.4751C>T (p.Pro1584Leu) http://identifiers.org/clinvar/24766 ^@ NM_000495.4(COL4A5):c.4756T>C (p.Cys1586Arg) http://identifiers.org/clinvar/24767 ^@ NM_000495.4(COL4A5):c.4757G>T (p.Cys1586Phe) http://identifiers.org/clinvar/24768 ^@ NM_000495.4(COL4A5):c.4766G>T (p.Gly1589Val) http://identifiers.org/clinvar/24769 ^@ NM_000495.4(COL4A5):c.4768T>G (p.Trp1590Gly) http://identifiers.org/clinvar/24770 ^@ NM_000495.4(COL4A5):c.4787G>A (p.Gly1596Asp) http://identifiers.org/clinvar/24771 ^@ NM_000495.4(COL4A5):c.4790A>G (p.Tyr1597Cys) http://identifiers.org/clinvar/24772 ^@ NM_000495.4(COL4A5):c.4791T>A (p.Tyr1597Ter) http://identifiers.org/clinvar/24773 ^@ NM_000495.4(COL4A5):c.4803G>A (p.Met1601Ile) http://identifiers.org/clinvar/24774 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24775 ^@ NM_000495.4(COL4A5):c.4803+1G>A http://identifiers.org/clinvar/24776 ^@ NM_000495.4(COL4A5):c.4803+121T>C http://identifiers.org/clinvar/24777 ^@ NM_033380.2(COL4A5):c.4822-151_4822-150insT (p.?) http://identifiers.org/clinvar/24778 ^@ NM_000495.4(COL4A5):c.4832delG (p.Gly1611Valfs) http://identifiers.org/clinvar/24779 ^@ NM_000495.4(COL4A5):c.4894T>G (p.Cys1632Gly) http://identifiers.org/clinvar/24780 ^@ NM_000495.4(COL4A5):c.4913G>A (p.Cys1638Tyr) http://identifiers.org/clinvar/24781 ^@ NM_000495.4(COL4A5):c.4968delC (p.Asp1656Glufs) http://identifiers.org/clinvar/24782 ^@ NM_000495.4(COL4A5):c.4976G>A (p.Ser1659Asn) http://identifiers.org/clinvar/24783 ^@ NM_000495.4(COL4A5):c.4977-2A>G http://identifiers.org/clinvar/24784 ^@ NM_000495.4(COL4A5):c.4994_5001delCGCTGAAA (p.Thr1665Serfs) http://identifiers.org/clinvar/24785 ^@ NM_000495.4(COL4A5):c.5020C>T (p.Arg1674Ter) http://identifiers.org/clinvar/24786 ^@ NM_000495.4(COL4A5):c.5029C>T (p.Arg1677Ter) http://identifiers.org/clinvar/24788 ^@ NM_000495.4(COL4A5):c.5030G>C (p.Arg1677Pro) http://identifiers.org/clinvar/24789 ^@ NM_000495.4(COL4A5):c.5032T>C (p.Cys1678Arg) http://identifiers.org/clinvar/24790 ^@ NM_000495.4(COL4A5):c.5034delT (p.Gln1679Lysfs) http://identifiers.org/clinvar/24791 ^@ NM_000495.4(COL4A5):c.5034T>G (p.Cys1678Trp) http://identifiers.org/clinvar/24792 ^@ NM_000495.4(COL4A5):c.5042G>T (p.Cys1681Phe) http://identifiers.org/clinvar/24793 ^@ NP_203699.1:p.? http://identifiers.org/clinvar/24795 ^@ NM_005359.5(SMAD4):c.(?_-17093)_(1659_?)del http://identifiers.org/clinvar/24797 ^@ NM_005359.5(SMAD4):c.905-32T= http://identifiers.org/clinvar/24798 ^@ NM_005359.5(SMAD4):c.302G>A (p.Trp101Ter) http://identifiers.org/clinvar/24799 ^@ NM_005359.5(SMAD4):c.354G>A (p.Ala118=) http://identifiers.org/clinvar/24800 ^@ NM_005359.5(SMAD4):c.373_374insAT (p.Ser125Asnfs) http://identifiers.org/clinvar/24801 ^@ NM_005359.5(SMAD4):c.375_381dupTGTCTGT (p.Val128Cysfs) http://identifiers.org/clinvar/24802 ^@ NM_005359.5(SMAD4):c.403C>T (p.Arg135Ter) http://identifiers.org/clinvar/24803 ^@ NM_005359.5(SMAD4):c.425-6A>G http://identifiers.org/clinvar/24804 ^@ NM_005359.5(SMAD4):c.430_431delTC (p.Ser144Argfs) http://identifiers.org/clinvar/24805 ^@ NM_005359.5(SMAD4):c.437T>A (p.Leu146Ter) http://identifiers.org/clinvar/24806 ^@ NM_005359.5(SMAD4):c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) http://identifiers.org/clinvar/24807 ^@ NM_005359.5(SMAD4):c.533C>G (p.Ser178Ter) http://identifiers.org/clinvar/24808 ^@ NM_005359.5(SMAD4):c.538C>T (p.Gln180Ter) http://identifiers.org/clinvar/24809 ^@ NM_005359.5(SMAD4):c.608delC (p.Pro203Hisfs) http://identifiers.org/clinvar/24810 ^@ NM_005359.5(SMAD4):c.668-?_1659+?del http://identifiers.org/clinvar/24811 ^@ NM_005359.5(SMAD4):c.692dupG (p.Ser232Glnfs) http://identifiers.org/clinvar/24813 ^@ NM_005359.5(SMAD4):c.729_730insCCGC (p.Gln245Profs) http://identifiers.org/clinvar/24814 ^@ NM_005359.5(SMAD4):c.788-?_1659+?del http://identifiers.org/clinvar/24816 ^@ NM_005359.5(SMAD4):c.831_832delAC (p.Pro278Terfs) http://identifiers.org/clinvar/24817 ^@ NM_005359.5(SMAD4):c.905-52A>G http://identifiers.org/clinvar/24818 ^@ NM_005359.5(SMAD4):c.925_928dupGCAT (p.Phe310Cysfs) http://identifiers.org/clinvar/24819 ^@ NM_005359.5(SMAD4):c.970T>C (p.Cys324Arg) http://identifiers.org/clinvar/24820 ^@ NM_005359.5(SMAD4):c.971delG (p.Cys324Phefs) http://identifiers.org/clinvar/24821 ^@ NM_005359.5(SMAD4):c.982dupT (p.Tyr328Leufs) http://identifiers.org/clinvar/24822 ^@ NM_005359.5(SMAD4):c.1081C>A (p.Arg361Ser) http://identifiers.org/clinvar/24823 ^@ NM_005359.5(SMAD4):c.988G>A (p.Glu330Lys) http://identifiers.org/clinvar/24824 ^@ NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) http://identifiers.org/clinvar/24825 ^@ NM_005359.5(SMAD4):c.1037delC (p.Pro346Leufs) http://identifiers.org/clinvar/24826 ^@ NM_005359.5(SMAD4):c.1042_1043delGT (p.Val348Tyrfs) http://identifiers.org/clinvar/24827 ^@ NM_005359.5(SMAD4):c.1054G>A (p.Gly352Arg) http://identifiers.org/clinvar/24828 ^@ NM_005359.5(SMAD4):c.1055G>A (p.Gly352Glu) http://identifiers.org/clinvar/24829 ^@ NM_005359.5(SMAD4):c.1058A>C (p.Tyr353Ser) http://identifiers.org/clinvar/24830 ^@ NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) http://identifiers.org/clinvar/24832 ^@ NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) http://identifiers.org/clinvar/24833 ^@ NM_005359.5(SMAD4):c.1082G>T (p.Arg361Leu) http://identifiers.org/clinvar/24834 ^@ NM_005359.5(SMAD4):c.1087T>C (p.Cys363Arg) http://identifiers.org/clinvar/24835 ^@ NM_005359.5(SMAD4):c.1088_1090delGTT (p.Cys363del) http://identifiers.org/clinvar/24836 ^@ NM_005359.5(SMAD4):c.1091T>G (p.Leu364Trp) http://identifiers.org/clinvar/24837 ^@ NM_005359.5(SMAD4):c.1102_1103delTC (p.Ser368Glnfs) http://identifiers.org/clinvar/24838 ^@ NM_005359.5(SMAD4):c.1113delC (p.His371Glnfs) http://identifiers.org/clinvar/24839 ^@ NM_005359.5(SMAD4):c.1139+1G>A http://identifiers.org/clinvar/24840 ^@ NM_005359.5(SMAD4):c.1148T>A (p.Ile383Lys) http://identifiers.org/clinvar/24841 ^@ NM_000060.4(BTD):c.1157G>A (p.Trp386Ter) http://identifiers.org/clinvar/24843 ^@ NM_005359.5(SMAD4):c.1168G>A (p.Glu390Lys) http://identifiers.org/clinvar/24844 ^@ NM_005359.5(SMAD4):c.1193G>A (p.Trp398Ter) http://identifiers.org/clinvar/24845 ^@ NM_005359.5(SMAD4):c.1236C>G (p.Tyr412Ter) http://identifiers.org/clinvar/24847 ^@ NM_005359.5(SMAD4):c.1242delA (p.Asp415Thrfs) http://identifiers.org/clinvar/24849 ^@ NM_005359.5(SMAD4):c.1268delG (p.Gly423Glufs) http://identifiers.org/clinvar/24850 ^@ NM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter) http://identifiers.org/clinvar/24851 ^@ NM_005359.5(SMAD4):c.1342C>T (p.Gln448Ter) http://identifiers.org/clinvar/24852 ^@ NM_005359.5(SMAD4):c.1343_1365del23 (p.Gln448Argfs) http://identifiers.org/clinvar/24853 ^@ NM_005359.5(SMAD4):c.1361_1364delCACA (p.Ala454Glufs) http://identifiers.org/clinvar/24854 ^@ NM_005359.5(SMAD4):c.1409_1410insCCCT (p.Gly471Profs) http://identifiers.org/clinvar/24855 ^@ NM_005359.5(SMAD4):c.1411_1435del25 (p.Gly471Leufs) http://identifiers.org/clinvar/24856 ^@ NM_005359.5(SMAD4):c.1421delC (p.Ser474Terfs) http://identifiers.org/clinvar/24857 ^@ NM_005359.5(SMAD4):c.1472G>T (p.Gly491Val) http://identifiers.org/clinvar/24858 ^@ NM_005359.5(SMAD4):c.1478A>C (p.Asp493Ala) http://identifiers.org/clinvar/24859 ^@ NM_005359.5(SMAD4):c.1525T>A (p.Trp509Arg) http://identifiers.org/clinvar/24860 ^@ NM_005359.5(SMAD4):c.1527G>A (p.Trp509Ter) http://identifiers.org/clinvar/24861 ^@ NM_005359.5(SMAD4):c.1529G>T (p.Gly510Val) http://identifiers.org/clinvar/24862 ^@ NM_005359.5(SMAD4):c.1544delG (p.Arg515Asnfs) http://identifiers.org/clinvar/24863 ^@ NM_005359.5(SMAD4):c.1547_1550dupAGAG (p.Ser517Argfs) http://identifiers.org/clinvar/24865 ^@ NM_005359.5(SMAD4):c.1564_1565delCC (p.Pro522Leufs) http://identifiers.org/clinvar/24866 ^@ NM_005359.5(SMAD4):c.1571G>T (p.Trp524Leu) http://identifiers.org/clinvar/24867 ^@ NM_005359.5(SMAD4):c.1587dupA (p.His530Thrfs) http://identifiers.org/clinvar/24868 ^@ NM_005359.5(SMAD4):c.1588delC (p.His530Thrfs) http://identifiers.org/clinvar/24869 ^@ NM_005359.5(SMAD4):c.1586_1587dupTA (p.His530Tyrfs) http://identifiers.org/clinvar/24870 ^@ NM_005359.5(SMAD4):c.1594delG (p.Ala532Profs) http://identifiers.org/clinvar/24871 ^@ NM_005359.5(SMAD4):c.1596_1597delCCinsT (p.Leu533Serfs) http://identifiers.org/clinvar/24872 ^@ NM_005359.5(SMAD4):c.1596delC (p.Leu533Serfs) http://identifiers.org/clinvar/24873 ^@ NM_005359.5(SMAD4):c.1597C>G (p.Leu533Val) http://identifiers.org/clinvar/24874 ^@ NM_005359.5(SMAD4):c.1598T>G (p.Leu533Arg) http://identifiers.org/clinvar/24875 ^@ NM_005359.5(SMAD4):c.1600C>T (p.Gln534Ter) http://identifiers.org/clinvar/24876 ^@ NM_005359.5(SMAD4):c.1598T>C (p.Leu533Pro) http://identifiers.org/clinvar/24877 ^@ NM_005359.5(SMAD4):c.1607dupT (p.Asp537Argfs) http://identifiers.org/clinvar/24878 ^@ NM_005359.5(SMAD4):c.1612_1625delGAAGTACTTCATAC (p.Glu538Hisfs) http://identifiers.org/clinvar/24879 ^@ LRG_318t1:c.1228-1229delCA http://identifiers.org/clinvar/24880 ^@ NM_020975.4(RET):c.874G>A (p.Val292Met) http://identifiers.org/clinvar/24881 ^@ NM_020630.4(RET):c.961G>A (p.Gly321Arg) http://identifiers.org/clinvar/24882 ^@ NM_020975.4(RET):c.1529C>T (p.Ala510Val) http://identifiers.org/clinvar/24883 ^@ NM_020975.4(RET):c.1531G>A (p.Glu511Lys) http://identifiers.org/clinvar/24885 ^@ NM_020630.4(RET):c.1591T>C (p.Cys531Arg) http://identifiers.org/clinvar/24887 ^@ NM_020630.4(RET):c.1597G>A (p.Gly533Ser) http://identifiers.org/clinvar/24888 ^@ NM_020630.4(RET):c.1832G>C (p.Cys611Ser) http://identifiers.org/clinvar/24889 ^@ NM_020630.4(RET):c.1760-12G>A http://identifiers.org/clinvar/24890 ^@ NM_020975.4(RET):c.1799G>A (p.Arg600Gln) http://identifiers.org/clinvar/24891 ^@ NM_020630.4(RET):c.1807A>C (p.Lys603Gln) http://identifiers.org/clinvar/24892 ^@ NM_020630.4(RET):c.1817A>G (p.Tyr606Cys) http://identifiers.org/clinvar/24893 ^@ NM_020630.4(RET):c.1825T>A (p.Cys609Ser) http://identifiers.org/clinvar/24894 ^@ NM_020630.4(RET):c.1825T>G (p.Cys609Gly) http://identifiers.org/clinvar/24895 ^@ NM_020630.4(RET):c.1827C>G (p.Cys609Trp) http://identifiers.org/clinvar/24896 ^@ NM_020630.4(RET):c.1831T>C (p.Cys611Arg) http://identifiers.org/clinvar/24897 ^@ NM_020630.4(RET):c.1831T>G (p.Cys611Gly) http://identifiers.org/clinvar/24898 ^@ NM_020630.4(RET):c.1832G>A (p.Cys611Tyr) http://identifiers.org/clinvar/24899 ^@ NM_020630.4(RET):c.1832G>T (p.Cys611Phe) http://identifiers.org/clinvar/24900 ^@ NM_020630.4(RET):c.1846_1848delGAG (p.Glu616del) http://identifiers.org/clinvar/24901 ^@ NM_020975.4(RET):c.1853G>A (p.Cys618Tyr) http://identifiers.org/clinvar/24902 ^@ NM_020630.4(RET):c.1853G>T (p.Cys618Phe) http://identifiers.org/clinvar/24903 ^@ NM_020630.4(RET):c.1854C>G (p.Cys618Trp) http://identifiers.org/clinvar/24904 ^@ NM_020630.4(RET):c.1857C>T (p.Phe619=) http://identifiers.org/clinvar/24905 ^@ NM_020630.4(RET):c.1858T>G (p.Cys620Gly) http://identifiers.org/clinvar/24906 ^@ NM_020630.4(RET):c.1867G>A (p.Glu623Lys) http://identifiers.org/clinvar/24907 ^@ NM_020630.4(RET):c.1879+4A>G http://identifiers.org/clinvar/24908 ^@ NM_020630.4(RET):c.1888T>C (p.Cys630Arg) http://identifiers.org/clinvar/24909 ^@ NM_020630.4(RET):c.1889G>A (p.Cys630Tyr) http://identifiers.org/clinvar/24910 ^@ NM_020630.4(RET):c.1889G>C (p.Cys630Ser) http://identifiers.org/clinvar/24911 ^@ NM_020630.4(RET):c.1889G>T (p.Cys630Phe) http://identifiers.org/clinvar/24912 ^@ NM_020630.4(RET):c.1891_1893delGAC (p.Asp631del) http://identifiers.org/clinvar/24913 ^@ NM_020630.4(RET):c.1891G>A (p.Asp631Asn) http://identifiers.org/clinvar/24914 ^@ NM_020630.4(RET):c.1891G>T (p.Asp631Tyr) http://identifiers.org/clinvar/24915 ^@ NM_020630.4(RET):c.1892A>C (p.Asp631Ala) http://identifiers.org/clinvar/24916 ^@ NM_020630.4(RET):c.1892A>G (p.Asp631Gly) http://identifiers.org/clinvar/24917 ^@ NM_020630.4(RET):c.1892A>T (p.Asp631Val) http://identifiers.org/clinvar/24918 ^@ NM_020630.4(RET):c.1893C>A (p.Asp631Glu) http://identifiers.org/clinvar/24919 ^@ NM_020630.4(RET):c.1893C>T (p.Asp631=) http://identifiers.org/clinvar/24920 ^@ NM_020630.4(RET):c.1894G>A (p.Glu632Lys) http://identifiers.org/clinvar/24923 ^@ NM_020630.4(RET):c.1903C>G (p.Arg635Gly) http://identifiers.org/clinvar/24924 ^@ NM_020630.4(RET):c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys) http://identifiers.org/clinvar/24925 ^@ NM_020975.4(RET):c.1906delAinsGACCTGTGCCGCC (p.Thr636delinsAspLeuCysArgPro) http://identifiers.org/clinvar/24926 ^@ NM_020630.4(RET):c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr) http://identifiers.org/clinvar/24927 ^@ NM_020630.4(RET):c.1921G>T (p.Ala641Ser) http://identifiers.org/clinvar/24928 ^@ NM_020975.4(RET):c.1946C>T (p.Ser649Leu) http://identifiers.org/clinvar/24929 ^@ NM_020630.4(RET):c.1947G>A (p.Ser649=) http://identifiers.org/clinvar/24930 ^@ NM_020630.4(RET):c.1995C>G (p.His665Gln) http://identifiers.org/clinvar/24931 ^@ NM_020630.4(RET):c.1996A>G (p.Lys666Glu) http://identifiers.org/clinvar/24932 ^@ NM_020630.4(RET):c.1998G>T (p.Lys666Asn) http://identifiers.org/clinvar/24933 ^@ NM_020975.4(RET):c.1998delGinsTTCT (p.Lys666delinsAsnSer) http://identifiers.org/clinvar/24934 ^@ NM_020975.4(RET):c.2071G>A (p.Gly691Ser) http://identifiers.org/clinvar/24935 ^@ NM_020975.4(RET):c.2307T>G (p.Leu769=) http://identifiers.org/clinvar/24936 ^@ NM_020630.4(RET):c.2309G>A (p.Arg770Gln) http://identifiers.org/clinvar/24937 ^@ NM_020630.4(RET):c.2330A>G (p.Asn777Ser) http://identifiers.org/clinvar/24938 ^@ NM_020630.4(RET):c.2342A>G (p.Gln781Arg) http://identifiers.org/clinvar/24939 ^@ NM_020975.4(RET):c.2371T>A (p.Tyr791Asn) http://identifiers.org/clinvar/24941 ^@ NM_020630.4(RET):c.2413G>A (p.Glu805Lys) http://identifiers.org/clinvar/24942 ^@ NM_020630.4(RET):c.2417A>G (p.Tyr806Cys) http://identifiers.org/clinvar/24943 ^@ NM_020630.4(RET):c.2452G>A (p.Glu818Lys) http://identifiers.org/clinvar/24944 ^@ NM_020630.4(RET):c.2456G>T (p.Ser819Ile) http://identifiers.org/clinvar/24945 ^@ NM_020630.4(RET):c.2497C>T (p.Arg833Cys) http://identifiers.org/clinvar/24946 ^@ NM_020975.4(RET):c.2508C>T (p.Ser836=) http://identifiers.org/clinvar/24947 ^@ NM_020630.4(RET):c.2522C>T (p.Pro841Leu) http://identifiers.org/clinvar/24948 ^@ NM_020975.4(RET):c.2523G>A (p.Pro841=) http://identifiers.org/clinvar/24949 ^@ NM_020630.4(RET):c.2529G>T (p.Glu843Asp) http://identifiers.org/clinvar/24950 ^@ NM_020630.4(RET):c.2530C>T (p.Arg844Trp) http://identifiers.org/clinvar/24951 ^@ NM_020630.4(RET):c.2531G>A (p.Arg844Gln) http://identifiers.org/clinvar/24952 ^@ NM_020630.4(RET):c.2531G>T (p.Arg844Leu) http://identifiers.org/clinvar/24953 ^@ NM_020630.4(RET):c.2535C>T (p.Ala845=) http://identifiers.org/clinvar/24954 ^@ NM_020630.4(RET):c.2543T>C (p.Met848Thr) http://identifiers.org/clinvar/24955 ^@ NM_020630.4(RET):c.2556C>G (p.Ile852Met) http://identifiers.org/clinvar/24956 ^@ NM_020630.4(RET):c.2608-24G>A http://identifiers.org/clinvar/24957 ^@ NM_020630.4(RET):c.2641C>G (p.Leu881Val) http://identifiers.org/clinvar/24958 ^@ NM_020630.4(RET):c.2647G>A (p.Ala883Thr) http://identifiers.org/clinvar/24960 ^@ NM_020630.4(RET):c.2656C>T (p.Arg886Trp) http://identifiers.org/clinvar/24961 ^@ NM_020975.4(RET):c.2673G>A (p.Ser891=) http://identifiers.org/clinvar/24962 ^@ NM_020630.4(RET):c.2711C>G (p.Ser904Cys) http://identifiers.org/clinvar/24963 ^@ NM_020630.4(RET):c.2711C>T (p.Ser904Phe) http://identifiers.org/clinvar/24964 ^@ NM_020975.4(RET):c.2712C>G (p.Ser904=) http://identifiers.org/clinvar/24965 ^@ NM_020630.4(RET):c.2719A>G (p.Lys907Glu) http://identifiers.org/clinvar/24966 ^@ NM_020630.4(RET):c.2720A>T (p.Lys907Met) http://identifiers.org/clinvar/24967 ^@ NM_020630.4(RET):c.2735G>A (p.Arg912Gln) http://identifiers.org/clinvar/24968 ^@ NM_020630.4(RET):c.2735G>C (p.Arg912Pro) http://identifiers.org/clinvar/24969 ^@ NM_020630.4(RET):c.2765C>A (p.Ser922Tyr) http://identifiers.org/clinvar/24972 ^@ NM_000060.4(BTD):c.99C>T (p.Cys33Cys=) http://identifiers.org/clinvar/24973 ^@ NM_000060.4(BTD):c.133G>A (p.Gly45Arg) http://identifiers.org/clinvar/25076 ^@ NM_000060.4(BTD):c.1271G>C (p.Cys424Ser) http://identifiers.org/clinvar/24976 ^@ NM_000060.4(BTD):c.136G>T (p.Glu46Ter) http://identifiers.org/clinvar/242760 ^@ NM_000060.4(BTD):c.159C>A (p.His53Gln) http://identifiers.org/clinvar/242759 ^@ NM_000060.4(BTD):c.160G>T (p.Glu54Ter) http://identifiers.org/clinvar/24978 ^@ NM_000060.4(BTD):c.171T>G (p.Tyr57Ter) http://identifiers.org/clinvar/24979 ^@ NM_000060.4(BTD):c.184G>T (p.Val62Leu) http://identifiers.org/clinvar/24980 ^@ NM_000060.4(BTD):c.190G>A (p.Glu64Lys) http://identifiers.org/clinvar/24981 ^@ H65fs http://identifiers.org/clinvar/24982 ^@ NM_000060.4(BTD):c.194A>G (p.His65Arg) http://identifiers.org/clinvar/24983 ^@ NM_000060.4(BTD):c.211C>T (p.Leu71Leu=) http://identifiers.org/clinvar/24985 ^@ NM_000060.4(BTD):c.234C>T (p.Ser78Ser=) http://identifiers.org/clinvar/24987 ^@ NM_000060.4(BTD):c.1361A>C (p.Tyr454Ser) http://identifiers.org/clinvar/24989 ^@ NM_000060.4(BTD):c.245C>T (p.Ala82Val) http://identifiers.org/clinvar/24990 ^@ NM_000060.4(BTD):c.246_254delCTTGGAGCT (p.Leu83_Leu85del) http://identifiers.org/clinvar/24991 ^@ NM_000060.4(BTD):c.248T>C (p.Leu83Ser) http://identifiers.org/clinvar/24992 ^@ NM_000060.4(BTD):c.262C>T (p.Gln88Ter) http://identifiers.org/clinvar/24993 ^@ NM_000060.4(BTD):c.278A>G (p.Tyr93Cys) http://identifiers.org/clinvar/242758 ^@ NM_000060.4(BTD):c.283C>T (p.Gln95Ter) http://identifiers.org/clinvar/24995 ^@ NM_000060.4(BTD):c.298G>A (p.Ala100Thr) http://identifiers.org/clinvar/24996 ^@ NM_000060.4(BTD):c.310G>T (p.Asp104Tyr) http://identifiers.org/clinvar/24997 ^@ NM_000060.4(BTD):c.334G>C (p.Glu112Gln) http://identifiers.org/clinvar/24998 ^@ NM_000060.4(BTD):c.334G>A (p.Glu112Lys) http://identifiers.org/clinvar/24999 ^@ NM_000060.4(BTD):c.341G>T (p.Gly114Val) http://identifiers.org/clinvar/25000 ^@ NM_000060.4(BTD):c.356A>G (p.Asn119Ser) http://identifiers.org/clinvar/25001 ^@ NM_000060.4(BTD):c.364A>G (p.Arg122Gly) http://identifiers.org/clinvar/25002 ^@ NM_000060.4(BTD):c.382T>G (p.Phe128Val) http://identifiers.org/clinvar/25003 ^@ NM_000060.4(BTD):c.393delC (p.Phe131Leufs) http://identifiers.org/clinvar/25004 ^@ NM_000060.4(BTD):c.424C>A (p.Pro142Thr) http://identifiers.org/clinvar/25005 ^@ NM_000060.4(BTD):c.443G>A (p.Arg148His) http://identifiers.org/clinvar/25006 ^@ NM_000060.4(BTD):c.444C>A (p.Arg148Arg=) http://identifiers.org/clinvar/25007 ^@ NM_000060.4(BTD):c.445T>C (p.Phe149Leu) http://identifiers.org/clinvar/25008 ^@ NM_000060.4(BTD):c.454A>C (p.Thr152Pro) http://identifiers.org/clinvar/25009 ^@ NM_000060.4(BTD):c.459G>A (p.Glu153Glu=) http://identifiers.org/clinvar/25010 ^@ NM_000060.4(BTD):c.460-8dupT http://identifiers.org/clinvar/25011 ^@ NM_000060.4(BTD):c.466C>T (p.Gln156Ter) http://identifiers.org/clinvar/25012 ^@ NM_000060.4(BTD):c.469C>T (p.Arg157Cys) http://identifiers.org/clinvar/25014 ^@ NM_000060.4(BTD):c.485C>T (p.Ala162Val) http://identifiers.org/clinvar/25015 ^@ NM_000060.4(BTD):c.490_491delAG (p.Arg164Glyfs) http://identifiers.org/clinvar/38298 ^@ NM_000060.4(BTD):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/25017 ^@ NM_000060.4(BTD):c.515A>G (p.Asn172Ser) http://identifiers.org/clinvar/25018 ^@ NM_000060.4(BTD):c.528G>T (p.Lys176Asn) http://identifiers.org/clinvar/25019 ^@ NM_000060.4(BTD):c.544delA (p.Ser182Valfs) http://identifiers.org/clinvar/25020 ^@ NM_000060.4(BTD):c.557G>A (p.Cys186Tyr) http://identifiers.org/clinvar/25021 ^@ NM_000060.4(BTD):c.583A>G (p.Asn195Asp) http://identifiers.org/clinvar/25022 ^@ NM_000060.4(BTD):c.584A>G (p.Asn195Ser) http://identifiers.org/clinvar/25023 ^@ NM_000060.4(BTD):c.587C>G (p.Thr196Arg) http://identifiers.org/clinvar/25024 ^@ NM_000060.4(BTD):c.594_596delCGT (p.Val199del) http://identifiers.org/clinvar/25025 ^@ NM_000060.4(BTD):c.594delC (p.Val199Cysfs) http://identifiers.org/clinvar/25026 ^@ NM_000060.4(BTD):c.595G>A (p.Val199Met) http://identifiers.org/clinvar/25027 ^@ NM_000060.4(BTD):c.605A>T (p.Asn202Ile) http://identifiers.org/clinvar/25028 ^@ NM_000060.4(BTD):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/25029 ^@ NM_000060.4(BTD):c.632G>A (p.Arg211His) http://identifiers.org/clinvar/38579 ^@ NM_000060.4(BTD):c.641A>G (p.Asn214Ser) http://identifiers.org/clinvar/25031 ^@ NM_000060.4(BTD):c.643C>T (p.Leu215Phe) http://identifiers.org/clinvar/25032 ^@ NM_000060.4(BTD):c.645C>T (p.Leu215Leu=) http://identifiers.org/clinvar/25033 ^@ NM_000060.4(BTD):c.652G>C (p.Glu218Gln) http://identifiers.org/clinvar/25034 ^@ NM_000060.4(BTD):c.654G>C (p.Glu218Asp) http://identifiers.org/clinvar/25035 ^@ NM_000060.4(BTD):c.682G>T (p.Asp228Tyr) http://identifiers.org/clinvar/25036 ^@ NM_000060.4(BTD):c.709G>A (p.Ala237Thr) http://identifiers.org/clinvar/25037 ^@ NM_000060.4(BTD):c.743T>C (p.Ile248Thr) http://identifiers.org/clinvar/25039 ^@ NM_000060.4(BTD):c.757C>T (p.Pro253Ser) http://identifiers.org/clinvar/25040 ^@ NM_000060.4(BTD):c.764T>C (p.Ile255Thr) http://identifiers.org/clinvar/25041 ^@ NM_000060.4(BTD):c.794A>T (p.His265Leu) http://identifiers.org/clinvar/25053 ^@ NM_000060.4(BTD):c.933T>G (p.Ser311Arg) http://identifiers.org/clinvar/25043 ^@ NM_000060.4(BTD):c.814T>G (p.Trp272Gly) http://identifiers.org/clinvar/25044 ^@ NM_000060.4(BTD):c.832C>G (p.Leu278Val) http://identifiers.org/clinvar/25045 ^@ NM_000060.4(BTD):c.833T>C (p.Leu278Pro) http://identifiers.org/clinvar/25046 ^@ NM_000060.4(BTD):c.836T>G (p.Leu279Trp) http://identifiers.org/clinvar/25047 ^@ NM_000060.4(BTD):c.880A>G (p.Ile294Val) http://identifiers.org/clinvar/25048 ^@ NM_000060.4(BTD):c.887T>G (p.Val296Gly) http://identifiers.org/clinvar/25049 ^@ NM_000060.4(BTD):c.896C>T (p.Ala299Val) http://identifiers.org/clinvar/25050 ^@ NM_000060.4(BTD):c.929G>A (p.Gly310Glu) http://identifiers.org/clinvar/25051 ^@ NM_000060.4(BTD):c.932G>A (p.Ser311Asn) http://identifiers.org/clinvar/25052 ^@ NM_000060.4(BTD):c.933delT (p.Ser311Argfs) http://identifiers.org/clinvar/25054 ^@ NM_000060.4(BTD):c.934G>A (p.Gly312Ser) http://identifiers.org/clinvar/25055 ^@ NM_000060.4(BTD):c.935G>A (p.Gly312Asp) http://identifiers.org/clinvar/25056 ^@ NM_000060.4(BTD):c.1049delC (p.Ala350Glufs) http://identifiers.org/clinvar/25057 ^@ NM_000060.4(BTD):c.1052delC (p.Thr351Lysfs) http://identifiers.org/clinvar/25058 ^@ NM_000060.4(BTD):c.1096T>C (p.Ser366Pro) http://identifiers.org/clinvar/25059 ^@ NM_000060.4(BTD):c.1106C>T (p.Pro369Leu) http://identifiers.org/clinvar/25082 ^@ NM_000060.4(BTD):c.1334G>T (p.Gly445Val) http://identifiers.org/clinvar/25061 ^@ NM_000060.4(BTD):c.1191_1192delGA (p.Glu397Aspfs) http://identifiers.org/clinvar/25062 ^@ NM_000060.4(BTD):c.1205A>G (p.Asn402Ser) http://identifiers.org/clinvar/25065 ^@ NM_000060.4(BTD):c.1211C>T (p.Thr404Ile) http://identifiers.org/clinvar/25066 ^@ NM_000060.4(BTD):c.1214T>C (p.Leu405Pro) http://identifiers.org/clinvar/25067 ^@ NM_000060.4(BTD):c.1227_1241delGGGAAAGGAAGGCTAins11 http://identifiers.org/clinvar/25068 ^@ NM_000060.4(BTD):c.1239delC (p.Tyr414Ilefs) http://identifiers.org/clinvar/25069 ^@ NM_000060.4(BTD):c.1252T>C (p.Cys418Arg) http://identifiers.org/clinvar/25070 ^@ NM_000060.4(BTD):c.1249G>T (p.Val417Phe) http://identifiers.org/clinvar/25071 ^@ NM_000060.4(BTD):c.1253G>C (p.Cys418Ser) http://identifiers.org/clinvar/25072 ^@ NM_000060.4(BTD):c.1264dupC (p.Leu422Profs) http://identifiers.org/clinvar/25073 ^@ NM_000060.4(BTD):c.1267T>C (p.Cys423Arg) http://identifiers.org/clinvar/25074 ^@ NM_000060.4(BTD):c.1268G>C (p.Cys423Ser) http://identifiers.org/clinvar/25075 ^@ NM_000060.4(BTD):c.1271G>A (p.Cys424Tyr) http://identifiers.org/clinvar/25077 ^@ NM_000060.4(BTD):c.1275T>G (p.Tyr425Ter) http://identifiers.org/clinvar/25078 ^@ NM_000060.4(BTD):c.1284C>A (p.Tyr428Ter) http://identifiers.org/clinvar/25079 ^@ NM_000060.4(BTD):c.1313A>G (p.Tyr438Cys) http://identifiers.org/clinvar/25080 ^@ NM_000060.4(BTD):c.1314T>A (p.Tyr438Ter) http://identifiers.org/clinvar/25081 ^@ NM_000060.4(BTD):c.1333G>A (p.Gly445Arg) http://identifiers.org/clinvar/25083 ^@ NM_000060.4(BTD):c.1339C>T (p.His447Tyr) http://identifiers.org/clinvar/25084 ^@ NM_000060.4(BTD):c.1352G>A (p.Gly451Asp) http://identifiers.org/clinvar/25085 ^@ NM_000060.4(BTD):c.1369G>A (p.Val457Met) http://identifiers.org/clinvar/25086 ^@ NM_000060.4(BTD):c.1384delA (p.Arg462Glyfs) http://identifiers.org/clinvar/25087 ^@ NM_000060.4(BTD):c.1388G>A (p.Cys463Tyr) http://identifiers.org/clinvar/25088 ^@ NM_000060.4(BTD):c.1413T>C (p.Cys471Cys=) http://identifiers.org/clinvar/25089 ^@ NM_000060.4(BTD):c.1432G>C (p.Ala478Pro) http://identifiers.org/clinvar/25090 ^@ NM_000060.4(BTD):c.1455C>G (p.His485Gln) http://identifiers.org/clinvar/25091 ^@ NM_000060.4(BTD):c.1459T>C (p.Trp487Arg) http://identifiers.org/clinvar/25092 ^@ NM_000060.4(BTD):c.1459delT (p.Trp487Glyfs) http://identifiers.org/clinvar/25093 ^@ NM_000060.4(BTD):c.1463G>A (p.Gly488Asp) http://identifiers.org/clinvar/25094 ^@ NM_000060.4(BTD):c.1489C>T (p.Pro497Ser) http://identifiers.org/clinvar/25095 ^@ NM_000060.4(BTD):c.1493dupT (p.Leu498Phefs) http://identifiers.org/clinvar/25096 ^@ NM_000060.4(BTD):c.1511T>A (p.Met504Lys) http://identifiers.org/clinvar/25097 ^@ NM_000060.4(BTD):c.1531C>G (p.Gln511Glu) http://identifiers.org/clinvar/25098 ^@ NM_000060.4(BTD):c.1610G>A (p.Gly537Glu) http://identifiers.org/clinvar/25099 ^@ NM_000060.4(BTD):c.1613G>A (p.Arg538His) http://identifiers.org/clinvar/25100 ^@ NM_000060.4(BTD):c.1616dupT (p.Leu539Phefs) http://identifiers.org/clinvar/25101 ^@ NM_000060.4(BTD):c.1619A>G (p.Tyr540Cys) http://identifiers.org/clinvar/25102 ^@ NM_000060.4(BTD):c.1627G>C (p.Asp543His) http://identifiers.org/clinvar/25103 ^@ NM_000060.4(BTD):c.1629C>A (p.Asp543Glu) http://identifiers.org/clinvar/25104 ^@ NM_000060.4(BTD):c.-34C>T http://identifiers.org/clinvar/25105 ^@ NM_000060.4(BTD):c.664G>C (p.Asp222His) http://identifiers.org/clinvar/25106 ^@ NM_000060.4(BTD):c.1001T>A (p.Ile334Asn) http://identifiers.org/clinvar/25107 ^@ NM_000060.4(BTD):c.1046A>C (p.Asn349Thr) http://identifiers.org/clinvar/25108 ^@ NM_000060.4(BTD):c.1432G>A (p.Ala478Thr) http://identifiers.org/clinvar/25109 ^@ NG_009029.1:g.(?_4752)_(?_9014) http://identifiers.org/clinvar/25110 ^@ NG_009029.1:g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] http://identifiers.org/clinvar/25111 ^@ NM_000155.3(GALT):c.-67-52_-67-49delGTCA http://identifiers.org/clinvar/25112 ^@ NM_000155.3(GALT):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/25113 ^@ NM_000155.3(GALT):c.18delC (p.Asp7Ilefs) http://identifiers.org/clinvar/25114 ^@ NM_000155.3(GALT):c.25C>T (p.Gln9Ter) http://identifiers.org/clinvar/25115 ^@ NM_000155.3(GALT):c.27G>C (p.Gln9His) http://identifiers.org/clinvar/25116 ^@ NM_000155.3(GALT):c.33C>T (p.Arg11=) http://identifiers.org/clinvar/25117 ^@ NM_000155.3(GALT):c.41delCinsTT (p.Ala14Valfs) http://identifiers.org/clinvar/25118 ^@ NM_000155.3(GALT):c.67A>G (p.Thr23Ala) http://identifiers.org/clinvar/25119 ^@ NM_000155.3(GALT):c.82G>T (p.Asp28Tyr) http://identifiers.org/clinvar/25120 ^@ NM_000155.3(GALT):c.82G>C (p.Asp28His) http://identifiers.org/clinvar/25121 ^@ NM_000155.3(GALT):c.90G>C (p.Gln30His) http://identifiers.org/clinvar/25122 ^@ NM_000155.3(GALT):c.91C>A (p.His31Asn) http://identifiers.org/clinvar/25123 ^@ NM_000155.3(GALT):c.95T>A (p.Ile32Asn) http://identifiers.org/clinvar/25124 ^@ NM_000155.3(GALT):c.98G>A (p.Arg33His) http://identifiers.org/clinvar/25125 ^@ NM_000155.3(GALT):c.100T>A (p.Tyr34Asn) http://identifiers.org/clinvar/25126 ^@ NM_000155.3(GALT):c.107C>T (p.Pro36Leu) http://identifiers.org/clinvar/25127 ^@ NM_000155.3(GALT):c.113A>C (p.Gln38Pro) http://identifiers.org/clinvar/25128 ^@ NM_000155.3(GALT):c.117T>C (p.Asp39=) http://identifiers.org/clinvar/25129 ^@ NM_000155.3(GALT):c.130G>T (p.Val44Leu) http://identifiers.org/clinvar/25131 ^@ NM_000155.3(GALT):c.134_138delCAGCT (p.Ala46Profs) http://identifiers.org/clinvar/25132 ^@ NM_000155.3(GALT):c.134C>T (p.Ser45Leu) http://identifiers.org/clinvar/25133 ^@ NM_000155.3(GALT):c.152G>T (p.Arg51Leu) http://identifiers.org/clinvar/25134 ^@ NM_000155.3(GALT):c.160C>T (p.Gln54Ter) http://identifiers.org/clinvar/25135 ^@ NM_000155.3(GALT):c.197C>A (p.Pro66His) http://identifiers.org/clinvar/25136 ^@ NM_000155.3(GALT):c.197C>T (p.Pro66Leu) http://identifiers.org/clinvar/25137 ^@ NM_000155.3(GALT):c.199C>T (p.Arg67Cys) http://identifiers.org/clinvar/25138 ^@ NM_000155.3(GALT):c.207_214delCCCTCTCA (p.Asp69Glufs) http://identifiers.org/clinvar/25139 ^@ NM_000155.3(GALT):c.220_221insG (p.Leu74Argfs) http://identifiers.org/clinvar/25140 ^@ NM_000155.3(GALT):c.238C>T (p.Arg80Ter) http://identifiers.org/clinvar/25141 ^@ NM_000155.3(GALT):c.241G>A (p.Ala81Thr) http://identifiers.org/clinvar/25142 ^@ NM_000155.3(GALT):c.253-2A>G http://identifiers.org/clinvar/25143 ^@ NM_000155.3(GALT):c.265T>G (p.Tyr89Asp) http://identifiers.org/clinvar/25144 ^@ NM_000155.3(GALT):c.265T>C (p.Tyr89His) http://identifiers.org/clinvar/25145 ^@ NM_000155.3(GALT):c.285T>G (p.Phe95Leu) http://identifiers.org/clinvar/25146 ^@ NM_000155.3(GALT):c.290A>G (p.Asn97Ser) http://identifiers.org/clinvar/25147 ^@ NM_000155.3(GALT):c.367C>G (p.Arg123Gly) http://identifiers.org/clinvar/25148 ^@ NM_000155.3(GALT):c.292G>A (p.Asp98Asn) http://identifiers.org/clinvar/25149 ^@ NM_000155.3(GALT):c.292G>C (p.Asp98His) http://identifiers.org/clinvar/25150 ^@ NM_000155.3(GALT):c.328+2T>C http://identifiers.org/clinvar/25151 ^@ NM_000155.3(GALT):c.328+29G>C http://identifiers.org/clinvar/25152 ^@ NM_000155.3(GALT):c.308A>G (p.Gln103Arg) http://identifiers.org/clinvar/25153 ^@ NM_000155.3(GALT):c.309G>A (p.Gln103=) http://identifiers.org/clinvar/25154 ^@ NM_000155.3(GALT):c.329-2A>C http://identifiers.org/clinvar/25155 ^@ NM_000155.3(GALT):c.330A>T (p.Gly110=) http://identifiers.org/clinvar/25156 ^@ NM_000155.3(GALT):c.334dupA (p.Ser112Lysfs) http://identifiers.org/clinvar/25157 ^@ NM_000155.3(GALT):c.336T>C (p.Ser112=) http://identifiers.org/clinvar/25158 ^@ NM_000155.3(GALT):c.337G>A (p.Asp113Asn) http://identifiers.org/clinvar/25159 ^@ NM_000155.3(GALT):c.341A>T (p.His114Leu) http://identifiers.org/clinvar/25160 ^@ NM_000155.3(GALT):c.350T>C (p.Phe117Ser) http://identifiers.org/clinvar/25161 ^@ NM_000155.3(GALT):c.354A>C (p.Gln118His) http://identifiers.org/clinvar/25162 ^@ NM_000155.3(GALT):c.368G>A (p.Arg123Gln) http://identifiers.org/clinvar/25163 ^@ NM_000155.3(GALT):c.374T>C (p.Val125Ala) http://identifiers.org/clinvar/25164 ^@ NM_000155.3(GALT):c.377+1G>T http://identifiers.org/clinvar/25165 ^@ NM_000155.3(GALT):c.377+53_1059+87del http://identifiers.org/clinvar/25166 ^@ NM_000155.3(GALT):c.378-27G>C http://identifiers.org/clinvar/25167 ^@ NM_000155.3(GALT):c.379A>G (p.Lys127Glu) http://identifiers.org/clinvar/25168 ^@ NM_000155.3(GALT):c.389G>A (p.Cys130Tyr) http://identifiers.org/clinvar/25169 ^@ NM_000155.3(GALT):c.392T>G (p.Phe131Cys) http://identifiers.org/clinvar/25170 ^@ NM_000155.3(GALT):c.396C>A (p.His132Gln) http://identifiers.org/clinvar/25171 ^@ NM_000155.3(GALT):c.400delT (p.Trp134Glyfs) http://identifiers.org/clinvar/25172 ^@ NM_000155.3(GALT):c.404C>G (p.Ser135Trp) http://identifiers.org/clinvar/25173 ^@ NM_000155.3(GALT):c.410dupT (p.Thr138Asnfs) http://identifiers.org/clinvar/25174 ^@ NM_000155.3(GALT):c.413C>T (p.Thr138Met) http://identifiers.org/clinvar/25175 ^@ NM_000155.3(GALT):c.424A>G (p.Met142Val) http://identifiers.org/clinvar/25176 ^@ NM_000155.3(GALT):c.425T>C (p.Met142Thr) http://identifiers.org/clinvar/25177 ^@ NM_000155.3(GALT):c.442C>G (p.Arg148Gly) http://identifiers.org/clinvar/25178 ^@ NM_000155.3(GALT):c.443G>A (p.Arg148Gln) http://identifiers.org/clinvar/25179 ^@ NM_000155.3(GALT):c.448G>C (p.Val150Leu) http://identifiers.org/clinvar/25180 ^@ NM_000155.3(GALT):c.452T>C (p.Val151Ala) http://identifiers.org/clinvar/25181 ^@ NM_000155.3(GALT):c.460T>G (p.Trp154Gly) http://identifiers.org/clinvar/25182 ^@ NM_000155.3(GALT):c.460T>C (p.Trp154Arg) http://identifiers.org/clinvar/25183 ^@ NM_000155.3(GALT):c.462G>A (p.Trp154Ter) http://identifiers.org/clinvar/25184 ^@ NM_000155.3(GALT):c.482T>C (p.Leu161Pro) http://identifiers.org/clinvar/25185 ^@ NM_000155.3(GALT):c.490C>T (p.Gln164Ter) http://identifiers.org/clinvar/25186 ^@ NM_000155.3(GALT):c.495C>T (p.Tyr165=) http://identifiers.org/clinvar/25187 ^@ NM_000155.3(GALT):c.496C>G (p.Pro166Ala) http://identifiers.org/clinvar/25188 ^@ NM_000155.3(GALT):c.499T>C (p.Trp167Arg) http://identifiers.org/clinvar/25189 ^@ NM_000155.3(GALT):c.502G>T (p.Val168Leu) http://identifiers.org/clinvar/25190 ^@ NM_000155.3(GALT):c.505C>A (p.Gln169Lys) http://identifiers.org/clinvar/25191 ^@ NM_000155.3(GALT):c.507+2T>C http://identifiers.org/clinvar/25192 ^@ NM_000155.3(GALT):c.507+62G>A http://identifiers.org/clinvar/25193 ^@ NM_000155.3(GALT):c.508-38T>C http://identifiers.org/clinvar/25194 ^@ NM_000155.3(GALT):c.508-29delT http://identifiers.org/clinvar/25195 ^@ NM_000155.3(GALT):c.508-24G>A http://identifiers.org/clinvar/25196 ^@ NM_000155.3(GALT):c.508-11C>A http://identifiers.org/clinvar/25197 ^@ NM_000155.3(GALT):c.508-11C>G http://identifiers.org/clinvar/25198 ^@ NM_000155.3(GALT):c.508-5G>C http://identifiers.org/clinvar/25199 ^@ NM_000155.3(GALT):c.509T>C (p.Ile170Thr) http://identifiers.org/clinvar/25200 ^@ NM_000155.3(GALT):c.509T>A (p.Ile170Asn) http://identifiers.org/clinvar/25201 ^@ NM_000155.3(GALT):c.510C>T (p.Ile170=) http://identifiers.org/clinvar/25203 ^@ NM_000155.3(GALT):c.524G>A (p.Gly175Asp) http://identifiers.org/clinvar/25204 ^@ NM_000155.3(GALT):c.528_529insG (p.Met177Aspfs) http://identifiers.org/clinvar/25205 ^@ NM_000155.3(GALT):c.536G>A (p.Gly179Asp) http://identifiers.org/clinvar/25206 ^@ NM_000155.3(GALT):c.539G>T (p.Cys180Phe) http://identifiers.org/clinvar/25207 ^@ NM_000155.3(GALT):c.541T>G (p.Ser181Ala) http://identifiers.org/clinvar/25208 ^@ NM_000155.3(GALT):c.542C>T (p.Ser181Phe) http://identifiers.org/clinvar/25209 ^@ NM_000155.3(GALT):c.550C>G (p.His184Asp) http://identifiers.org/clinvar/25210 ^@ NM_000155.3(GALT):c.552C>A (p.His184Gln) http://identifiers.org/clinvar/25211 ^@ NM_000155.3(GALT):c.553C>T (p.Pro185Ser) http://identifiers.org/clinvar/25212 ^@ NM_000155.3(GALT):c.554C>A (p.Pro185His) http://identifiers.org/clinvar/25213 ^@ NM_000155.3(GALT):c.554C>T (p.Pro185Leu) http://identifiers.org/clinvar/25214 ^@ NM_000155.3(GALT):c.556C>T (p.His186Tyr) http://identifiers.org/clinvar/25215 ^@ NM_000155.3(GALT):c.564+1G>A http://identifiers.org/clinvar/25216 ^@ NM_000155.3(GALT):c.564+15G>A http://identifiers.org/clinvar/25217 ^@ NM_000155.3(GALT):c.564+32T>A http://identifiers.org/clinvar/25218 ^@ NM_000155.3(GALT):c.565-2A>G http://identifiers.org/clinvar/25219 ^@ NM_000155.3(GALT):c.574A>G (p.Ser192Gly) http://identifiers.org/clinvar/25220 ^@ NM_000155.3(GALT):c.575G>A (p.Ser192Asn) http://identifiers.org/clinvar/25221 ^@ NM_000155.3(GALT):c.583C>T (p.Leu195=) http://identifiers.org/clinvar/25222 ^@ NM_000155.3(GALT):c.584T>C (p.Leu195Pro) http://identifiers.org/clinvar/25223 ^@ NM_000155.3(GALT):c.594T>G (p.Ile198Met) http://identifiers.org/clinvar/25224 ^@ NM_000155.3(GALT):c.595G>A (p.Ala199Thr) http://identifiers.org/clinvar/25225 ^@ NM_000155.3(GALT):c.598delC (p.Gln200Serfs) http://identifiers.org/clinvar/25226 ^@ NM_000155.3(GALT):c.601C>T (p.Arg201Cys) http://identifiers.org/clinvar/25227 ^@ NM_000155.3(GALT):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/25228 ^@ NM_000155.3(GALT):c.610C>T (p.Arg204Ter) http://identifiers.org/clinvar/25229 ^@ NM_000155.3(GALT):c.611G>C (p.Arg204Pro) http://identifiers.org/clinvar/25230 ^@ NM_000155.3(GALT):c.619C>T (p.Gln207Ter) http://identifiers.org/clinvar/25231 ^@ NM_000155.3(GALT):c.626A>G (p.Tyr209Cys) http://identifiers.org/clinvar/25232 ^@ NM_000155.3(GALT):c.626A>C (p.Tyr209Ser) http://identifiers.org/clinvar/25233 ^@ NM_000155.3(GALT):c.630G>A (p.Lys210=) http://identifiers.org/clinvar/25234 ^@ NM_000155.3(GALT):c.634C>T (p.Gln212Ter) http://identifiers.org/clinvar/25235 ^@ NM_000155.3(GALT):c.635A>C (p.Gln212Pro) http://identifiers.org/clinvar/25236 ^@ NM_000155.3(GALT):c.650T>C (p.Leu217Pro) http://identifiers.org/clinvar/25237 ^@ NM_000155.3(GALT):c.652delC (p.Leu218Terfs) http://identifiers.org/clinvar/25239 ^@ NM_000155.3(GALT):c.652C>G (p.Leu218Val) http://identifiers.org/clinvar/25240 ^@ NM_000155.3(GALT):c.658G>A (p.Glu220Lys) http://identifiers.org/clinvar/25241 ^@ NM_000155.3(GALT):c.658dupG (p.Glu220Glyfs) http://identifiers.org/clinvar/25242 ^@ NM_000155.3(GALT):c.667C>A (p.Arg223Ser) http://identifiers.org/clinvar/25243 ^@ NM_000155.3(GALT):c.677T>C (p.Leu226Pro) http://identifiers.org/clinvar/25244 ^@ NM_000155.3(GALT):c.687G>T (p.Lys229Asn) http://identifiers.org/clinvar/25245 ^@ NM_000155.3(GALT):c.687+2T>C http://identifiers.org/clinvar/25246 ^@ NM_000155.3(GALT):c.691C>T (p.Arg231Cys) http://identifiers.org/clinvar/25247 ^@ NM_000155.3(GALT):c.692G>A (p.Arg231His) http://identifiers.org/clinvar/25248 ^@ NM_000155.3(GALT):c.697G>C (p.Val233Leu) http://identifiers.org/clinvar/25249 ^@ NM_000155.3(GALT):c.699C>A (p.Val233=) http://identifiers.org/clinvar/25250 ^@ NM_000155.3(GALT):c.719_728delTAGTACTGGT (p.Leu240Serfs) http://identifiers.org/clinvar/25251 ^@ NM_000155.3(GALT):c.745T>C (p.Trp249Arg) http://identifiers.org/clinvar/25252 ^@ NM_000155.3(GALT):c.747G>A (p.Trp249Ter) http://identifiers.org/clinvar/25253 ^@ NM_000155.3(GALT):c.752A>G (p.Tyr251Cys) http://identifiers.org/clinvar/25254 ^@ NM_000155.3(GALT):c.752A>C (p.Tyr251Ser) http://identifiers.org/clinvar/25255 ^@ NM_000155.3(GALT):c.753C>T (p.Tyr251=) http://identifiers.org/clinvar/25256 ^@ NM_000155.3(GALT):c.756G>T (p.Gln252His) http://identifiers.org/clinvar/25257 ^@ NM_000155.3:c.759A>N http://identifiers.org/clinvar/25258 ^@ L255AfsX12 http://identifiers.org/clinvar/25259 ^@ NM_000155.3(GALT):c.768_770delGCC (p.Pro257del) http://identifiers.org/clinvar/25260 ^@ NM_000155.3(GALT):c.770C>T (p.Pro257Leu) http://identifiers.org/clinvar/25261 ^@ M60091.1:c.775C>T? http://identifiers.org/clinvar/25262 ^@ NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) http://identifiers.org/clinvar/25263 ^@ NM_000155.3(GALT):c.785G>C (p.Arg262Pro) http://identifiers.org/clinvar/25264 ^@ NM_000155.3(GALT):c.790_792delCTAinsTAG (p.Leu264Ter) http://identifiers.org/clinvar/277676 ^@ NM_000155.3(GALT):c.790_792delCTAinsTAG (p.Leu264Ter) http://identifiers.org/clinvar/25265 ^@ NM_000155.3(GALT):c.793C>G (p.Pro265Ala) http://identifiers.org/clinvar/25266 ^@ NM_000155.3(GALT):c.803C>A (p.Thr268Asn) http://identifiers.org/clinvar/25267 ^@ NM_000155.3(GALT):c.812A>G (p.Glu271Gly) http://identifiers.org/clinvar/25268 ^@ NM_000155.3(GALT):c.814C>G (p.Arg272Gly) http://identifiers.org/clinvar/25269 ^@ NM_000155.3(GALT):c.820+13A>G http://identifiers.org/clinvar/25270 ^@ NM_000155.3(GALT):c.820+23T>G http://identifiers.org/clinvar/25271 ^@ NM_000155.3(GALT):c.821-46G>T http://identifiers.org/clinvar/25272 ^@ NM_000155.3(GALT):c.821-2A>G http://identifiers.org/clinvar/25273 ^@ NM_000155.3(GALT):c.824delT (p.Leu275Glnfs) http://identifiers.org/clinvar/25274 ^@ NM_000155.3(GALT):c.833T>A (p.Ile278Asn) http://identifiers.org/clinvar/25275 ^@ NM_000155.3(GALT):c.836T>G (p.Met279Arg) http://identifiers.org/clinvar/25276 ^@ NM_000155.3(GALT):c.844C>G (p.Leu282Val) http://identifiers.org/clinvar/25277 ^@ NM_000155.3(GALT):c.854A>G (p.Lys285Arg) http://identifiers.org/clinvar/25278 ^@ NM_000155.3(GALT):c.865C>T (p.Leu289Phe) http://identifiers.org/clinvar/25279 ^@ NM_000155.3(GALT):c.866T>G (p.Leu289Arg) http://identifiers.org/clinvar/25280 ^@ NM_000155.3(GALT):c.871G>A (p.Glu291Lys) http://identifiers.org/clinvar/25281 ^@ NM_000155.3(GALT):c.872A>T (p.Glu291Val) http://identifiers.org/clinvar/25283 ^@ NM_000155.3(GALT):c.881T>A (p.Phe294Tyr) http://identifiers.org/clinvar/25284 ^@ NM_000155.3(GALT):c.882delT (p.Tyr296Thrfs) http://identifiers.org/clinvar/25285 ^@ NM_000155.3(GALT):c.883C>A (p.Pro295Thr) http://identifiers.org/clinvar/25287 ^@ NM_000155.3(GALT):c.904+5G>A http://identifiers.org/clinvar/25288 ^@ NM_000155.3(GALT):c.920C>A (p.Ser307Ter) http://identifiers.org/clinvar/25289 ^@ NM_000155.3(GALT):c.922G>A (p.Glu308Lys) http://identifiers.org/clinvar/25291 ^@ NM_000155.3(GALT):c.947G>A (p.Trp316Ter) http://identifiers.org/clinvar/25292 ^@ NM_000155.3(GALT):c.948G>A (p.Trp316Ter) http://identifiers.org/clinvar/25293 ^@ NM_000155.3(GALT):c.949delC (p.Gln317Serfs) http://identifiers.org/clinvar/25294 ^@ NM_000155.3(GALT):c.951G>T (p.Gln317His) http://identifiers.org/clinvar/25295 ^@ NM_000155.3(GALT):c.952delC (p.Leu318Cysfs) http://identifiers.org/clinvar/25296 ^@ NM_000155.3(GALT):c.954G>A (p.Leu318=) http://identifiers.org/clinvar/25297 ^@ NM_000155.3(GALT):c.957C>T (p.His319=) http://identifiers.org/clinvar/25298 ^@ NM_000155.3(GALT):c.958G>A (p.Ala320Thr) http://identifiers.org/clinvar/25299 ^@ NM_000155.3(GALT):c.961C>T (p.His321Tyr) http://identifiers.org/clinvar/25300 ^@ NM_000155.3(GALT):c.967T>G (p.Tyr323Asp) http://identifiers.org/clinvar/25301 ^@ NM_000155.3(GALT):c.967T>C (p.Tyr323His) http://identifiers.org/clinvar/25302 ^@ NM_000155.3(GALT):c.968A>G (p.Tyr323Cys) http://identifiers.org/clinvar/25303 ^@ NM_000155.3(GALT):c.970C>T (p.Pro324Ser) http://identifiers.org/clinvar/25304 ^@ NM_000155.3(GALT):c.972T>C (p.Pro324=) http://identifiers.org/clinvar/25305 ^@ NM_000155.3(GALT):c.974C>T (p.Pro325Leu) http://identifiers.org/clinvar/25306 ^@ NM_000155.3(GALT):c.976delC (p.Leu326Serfs) http://identifiers.org/clinvar/25307 ^@ NM_000155.3(GALT):c.979delC (p.Leu327Cysfs) http://identifiers.org/clinvar/25308 ^@ NM_000155.3(GALT):c.980T>C (p.Leu327Pro) http://identifiers.org/clinvar/25309 ^@ NM_000155.3(GALT):c.983G>A (p.Arg328His) http://identifiers.org/clinvar/25310 ^@ NM_000155.3(GALT):c.986C>T (p.Ser329Phe) http://identifiers.org/clinvar/25311 ^@ NM_000155.3(GALT):c.989C>T (p.Ala330Val) http://identifiers.org/clinvar/25313 ^@ NM_000155.3(GALT):c.998G>T (p.Arg333Leu) http://identifiers.org/clinvar/25314 ^@ NM_000155.3(GALT):c.1001A>G (p.Lys334Arg) http://identifiers.org/clinvar/25315 ^@ NM_000155.3(GALT):c.1006A>T (p.Met336Leu) http://identifiers.org/clinvar/25316 ^@ NM_000155.3(GALT):c.1014C>G (p.Gly338=) http://identifiers.org/clinvar/25317 ^@ NM_000155.3(GALT):c.1018G>A (p.Glu340Lys) http://identifiers.org/clinvar/25318 ^@ NM_000155.3(GALT):c.1018G>T (p.Glu340Ter) http://identifiers.org/clinvar/25319 ^@ NM_000155.3(GALT):c.1024C>A (p.Leu342Ile) http://identifiers.org/clinvar/25320 ^@ NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) http://identifiers.org/clinvar/25321 ^@ NM_000155.3(GALT):c.1034C>A (p.Ala345Asp) http://identifiers.org/clinvar/25322 ^@ NM_000155.3(GALT):c.1047delC (p.Thr350Profs) http://identifiers.org/clinvar/25323 ^@ NM_000155.3(GALT):c.1048A>G (p.Thr350Ala) http://identifiers.org/clinvar/25325 ^@ NM_000155.3(GALT):c.1057C>T (p.Gln353Ter) http://identifiers.org/clinvar/25326 ^@ NM_000155.3(GALT):c.1059+24G>A http://identifiers.org/clinvar/25327 ^@ NM_000155.3(GALT):c.1059+36T>A http://identifiers.org/clinvar/25328 ^@ NM_000155.3(GALT):c.1059+56C>T http://identifiers.org/clinvar/25329 ^@ NM_000155.3(GALT):c.1060-1G>A http://identifiers.org/clinvar/25330 ^@ NM_000155.3(GALT):c.1072delC (p.Leu358Terfs) http://identifiers.org/clinvar/25331 ^@ NM_000155.3(GALT):c.1078_1083delGCACTTins20 (p.?) http://identifiers.org/clinvar/25332 ^@ NM_000155.3(GALT):c.1098C>A (p.Tyr366Ter) http://identifiers.org/clinvar/25333 ^@ NM_000155.3(GALT):c.1108C>T (p.Gln370Ter) http://identifiers.org/clinvar/25334 ^@ NM_000155.3(GALT):c.1132A>G (p.Ile378Val) http://identifiers.org/clinvar/25335 ^@ NM_000155.3(GALT):c.1138T>C (p.Ter380Arg) http://identifiers.org/clinvar/25336 ^@ NM_000155.3(GALT):c.1140A>C (p.Ter380Cys) http://identifiers.org/clinvar/25337 ^@ NM_000155.3(GALT):c.*203C>T http://identifiers.org/clinvar/25338 ^@ NM_003060.3(SLC22A5):c.-207C= http://identifiers.org/clinvar/25339 ^@ NM_003060.3(SLC22A5):c.-185C= http://identifiers.org/clinvar/25340 ^@ NM_003060.3(SLC22A5):c.-149G>A http://identifiers.org/clinvar/25341 ^@ NM_003060.3(SLC22A5):c.-91_22del113 http://identifiers.org/clinvar/25342 ^@ NM_003060.3(SLC22A5):c.-78C>T http://identifiers.org/clinvar/25343 ^@ NM_003060.3(SLC22A5):c.-77G>A http://identifiers.org/clinvar/25344 ^@ NM_003060.3(SLC22A5):c.-38C= http://identifiers.org/clinvar/25346 ^@ NM_003060.3(SLC22A5):c.4dupC (p.Arg2Profs) http://identifiers.org/clinvar/25347 ^@ NM_003060.3(SLC22A5):c.12C>G (p.Tyr4Ter) http://identifiers.org/clinvar/25348 ^@ NC_000005.9:g.131705697_131728284del22588 http://identifiers.org/clinvar/25349 ^@ NM_003060.3(SLC22A5):c.34G>A (p.Gly12Ser) http://identifiers.org/clinvar/25350 ^@ NM_003060.3(SLC22A5):c.51C>G (p.Phe17Leu) http://identifiers.org/clinvar/25351 ^@ NM_003060.3(SLC22A5):c.56G>C (p.Arg19Pro) http://identifiers.org/clinvar/25352 ^@ NM_003060.3(SLC22A5):c.59T>A (p.Leu20His) http://identifiers.org/clinvar/25353 ^@ NM_003060.3(SLC22A5):c.67_69delTTC (p.Phe23del) http://identifiers.org/clinvar/25354 ^@ NM_003060.3(SLC22A5):c.83G>T (p.Ser28Ile) http://identifiers.org/clinvar/25355 ^@ NM_003060.3(SLC22A5):c.95A>G (p.Asn32Ser) http://identifiers.org/clinvar/25356 ^@ NM_003060.3(SLC22A5):c.136C>G (p.Pro46Ala) http://identifiers.org/clinvar/25357 ^@ NM_003060.3(SLC22A5):c.137C>T (p.Pro46Leu) http://identifiers.org/clinvar/25358 ^@ NM_003060.3(SLC22A5):c.207G>C (p.Leu69=) http://identifiers.org/clinvar/25359 ^@ NM_003060.3(SLC22A5):c.232delC (p.His79Thrfs) http://identifiers.org/clinvar/25360 ^@ NM_003060.3(SLC22A5):c.246C>T (p.Arg82=) http://identifiers.org/clinvar/25361 ^@ NM_003060.3(SLC22A5):c.248G>T (p.Arg83Leu) http://identifiers.org/clinvar/25363 ^@ NM_003060.3(SLC22A5):c.285T= (p.Leu95=) http://identifiers.org/clinvar/25364 ^@ NM_003060.3(SLC22A5):c.287G>C (p.Gly96Ala) http://identifiers.org/clinvar/25365 ^@ L97L http://identifiers.org/clinvar/25366 ^@ NM_003060.3(SLC22A5):c.393+17G>A http://identifiers.org/clinvar/25367 ^@ NM_003060.3(SLC22A5):c.265_266insGGCTCGCCACC (p.Ile89Argfs) http://identifiers.org/clinvar/25368 ^@ NM_003060.3(SLC22A5):c.278C>G (p.Ser93Trp) http://identifiers.org/clinvar/25369 ^@ NM_003060.3(SLC22A5):c.283C>G (p.Leu95Val) http://identifiers.org/clinvar/25370 ^@ NM_003060.3(SLC22A5):c.344A>G (p.Asp115Gly) http://identifiers.org/clinvar/25371 ^@ NM_003060.3(SLC22A5):c.364G>T (p.Asp122Tyr) http://identifiers.org/clinvar/25372 ^@ NM_003060.3(SLC22A5):c.424G>T (p.Ala142Ser) http://identifiers.org/clinvar/25373 ^@ NM_003060.3(SLC22A5):c.430C>T (p.Leu144Phe) http://identifiers.org/clinvar/25374 ^@ NM_003060.3(SLC22A5):c.451G>A (p.Val151Met) http://identifiers.org/clinvar/25375 ^@ NM_003060.3(SLC22A5):c.453G>A (p.Val151=) http://identifiers.org/clinvar/25376 ^@ NM_003060.3(SLC22A5):c.458_459delTG (p.Val153Alafs) http://identifiers.org/clinvar/25377 ^@ NM_003060.3(SLC22A5):c.414C>T (p.Asp138=) http://identifiers.org/clinvar/25379 ^@ NM_003060.3(SLC22A5):c.535A>T (p.Met179Leu) http://identifiers.org/clinvar/25381 ^@ NM_003060.3(SLC22A5):c.652+1G>A http://identifiers.org/clinvar/25382 ^@ NM_003060.3(SLC22A5):c.652+6A>G http://identifiers.org/clinvar/25383 ^@ NM_003060.3(SLC22A5):c.652+77A>G http://identifiers.org/clinvar/25384 ^@ NM_003060.3(SLC22A5):c.653-2A>C http://identifiers.org/clinvar/25385 ^@ NM_003060.3(SLC22A5):c.653_824del172 (p.Thr219Serfs) http://identifiers.org/clinvar/25386 ^@ NM_003060.3(SLC22A5):c.695C>T (p.Thr232Met) http://identifiers.org/clinvar/25387 ^@ NM_003060.3(SLC22A5):c.725G>T (p.Gly242Val) http://identifiers.org/clinvar/25389 ^@ NM_003060.3(SLC22A5):c.761G>A (p.Arg254Gln) http://identifiers.org/clinvar/25390 ^@ NM_003060.3(SLC22A5):c.768G>A (p.Trp256Ter) http://identifiers.org/clinvar/25391 ^@ NM_003060.3(SLC22A5):c.769C>T (p.Arg257Trp) http://identifiers.org/clinvar/25392 ^@ NM_003060.3(SLC22A5):c.806delT (p.Leu269Hisfs) http://identifiers.org/clinvar/25393 ^@ NM_003060.3(SLC22A5):c.807A= (p.Leu269=) http://identifiers.org/clinvar/25394 ^@ NM_003060.3(SLC22A5):c.824+13T= http://identifiers.org/clinvar/25395 ^@ NM_003060.3(SLC22A5):c.674C>T (p.Ser225Leu) http://identifiers.org/clinvar/25396 ^@ NM_003060.3(SLC22A5):c.692C>T (p.Ser231Phe) http://identifiers.org/clinvar/25397 ^@ NM_003060.3(SLC22A5):c.825G>A (p.Trp275Ter) http://identifiers.org/clinvar/25398 ^@ NM_003060.3(SLC22A5):c.839C>T (p.Ser280Phe) http://identifiers.org/clinvar/25399 ^@ NM_003060.3(SLC22A5):c.839delC (p.Arg282Aspfs) http://identifiers.org/clinvar/25401 ^@ NM_003060.3(SLC22A5):c.845G>A (p.Arg282Gln) http://identifiers.org/clinvar/25402 ^@ NM_003060.3(SLC22A5):c.847T>C (p.Trp283Arg) http://identifiers.org/clinvar/25403 ^@ NM_003060.3(SLC22A5):c.849G>T (p.Trp283Cys) http://identifiers.org/clinvar/25404 ^@ NM_003060.3(SLC22A5):c.865C>T (p.Arg289Ter) http://identifiers.org/clinvar/25405 ^@ NM_003060.3(SLC22A5):c.902C>A (p.Ala301Asp) http://identifiers.org/clinvar/25406 ^@ NM_003060.3(SLC22A5):c.1009delA (p.Thr337Profs) http://identifiers.org/clinvar/25407 ^@ NM_003060.3(SLC22A5):c.1043T>C (p.Ile348Thr) http://identifiers.org/clinvar/25408 ^@ NM_003060.3(SLC22A5):c.1088T>C (p.Leu363Pro) http://identifiers.org/clinvar/25409 ^@ NM_003060.3(SLC22A5):c.1161T>G (p.Tyr387Ter) http://identifiers.org/clinvar/25410 ^@ NM_003060.3(SLC22A5):c.1181_1183delTGC (p.Leu394del) http://identifiers.org/clinvar/25411 ^@ NM_003060.3(SLC22A5):c.1193C>T (p.Pro398Leu) http://identifiers.org/clinvar/25413 ^@ NM_003060.3(SLC22A5):c.1267+3_1267+23del http://identifiers.org/clinvar/25414 ^@ NM_003060.3(SLC22A5):c.1268-34A>G http://identifiers.org/clinvar/25416 ^@ NM_003060.3(SLC22A5):c.1319C>T (p.Thr440Met) http://identifiers.org/clinvar/25417 ^@ NM_003060.3(SLC22A5):c.1336G>T (p.Val446Phe) http://identifiers.org/clinvar/25418 ^@ NM_003060.3(SLC22A5):c.1340A>G (p.Tyr447Cys) http://identifiers.org/clinvar/25419 ^@ NM_003060.3(SLC22A5):c.1342G>T (p.Val448Leu) http://identifiers.org/clinvar/25420 ^@ NM_003060.3(SLC22A5):c.1345T>G (p.Tyr449Asp) http://identifiers.org/clinvar/25421 ^@ NM_003060.3(SLC22A5):c.1354G>A (p.Glu452Lys) http://identifiers.org/clinvar/25423 ^@ NM_003060.3(SLC22A5):c.1400C>G (p.Ser467Cys) http://identifiers.org/clinvar/25424 ^@ NM_003060.3(SLC22A5):c.1403C>G (p.Thr468Arg) http://identifiers.org/clinvar/25425 ^@ NM_003060.3(SLC22A5):c.1409C>T (p.Ser470Phe) http://identifiers.org/clinvar/25426 ^@ NM_003060.3(SLC22A5):c.1412G>A (p.Arg471His) http://identifiers.org/clinvar/25427 ^@ NM_003060.3(SLC22A5):c.1441G>T (p.Val481Phe) http://identifiers.org/clinvar/25428 ^@ NM_003060.3(SLC22A5):c.1451-1G>A http://identifiers.org/clinvar/25429 ^@ NM_003060.3(SLC22A5):c.1556_1559dupACAC (p.Ile521Hisfs) http://identifiers.org/clinvar/25430 ^@ NM_003060.3(SLC22A5):c.1586+1G>T http://identifiers.org/clinvar/25431 ^@ NM_003060.3(SLC22A5):c.1587-38A>C http://identifiers.org/clinvar/25432 ^@ NM_003060.3(SLC22A5):c.1645C>T (p.Pro549Ser) http://identifiers.org/clinvar/25433 ^@ NM_003060.3(SLC22A5):c.*47C>T http://identifiers.org/clinvar/25511 ^@ NM_001171174.1(CX3CR1):c.935C>T (p.Thr312Met) http://identifiers.org/clinvar/37340 ^@ NM_000852.3(GSTP1):c.313A>G (p.Ile105Val) http://identifiers.org/clinvar/37344 ^@ NM_024006.5(VKORC1):c.174-136C>T http://identifiers.org/clinvar/37345 ^@ NM_000130.4(F5):c.3980A>G (p.His1327Arg) http://identifiers.org/clinvar/242756 ^@ NM_001012515.2(FECH):c.1249T>G (p.Cys417Gly) http://identifiers.org/clinvar/242755 ^@ NM_001012515.2(FECH):c.1243C>T (p.Pro415Ser) http://identifiers.org/clinvar/93450 ^@ NM_001005741.2(GBA):c.1483G>C (p.Ala495Pro) http://identifiers.org/clinvar/93451 ^@ NM_001005741.2(GBA):c.1497G>C (p.Val499=) http://identifiers.org/clinvar/90121 ^@ NM_000249.3(MLH1):c.256C>T (p.Gln86Ter) http://identifiers.org/clinvar/90122 ^@ NM_000249.3(MLH1):c.25C>T (p.Arg9Trp) http://identifiers.org/clinvar/90123 ^@ NM_000249.3(MLH1):c.261delC (p.Phe88Leufs) http://identifiers.org/clinvar/90124 ^@ NM_000249.3(MLH1):c.265G>T (p.Glu89Ter) http://identifiers.org/clinvar/90125 ^@ NM_000249.3(MLH1):c.274G>C (p.Ala92Pro) http://identifiers.org/clinvar/90126 ^@ NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) http://identifiers.org/clinvar/90127 ^@ NM_000249.3(MLH1):c.283T>G (p.Ser95Ala) http://identifiers.org/clinvar/90128 ^@ NM_000249.3(MLH1):c.292G>A (p.Gly98Ser) http://identifiers.org/clinvar/90129 ^@ NM_000249.3(MLH1):c.292G>C (p.Gly98Arg) http://identifiers.org/clinvar/90130 ^@ NM_000249.3(MLH1):c.293_304delGCTTTCGAGGTG (p.Gly98_Gly101del) http://identifiers.org/clinvar/90131 ^@ NM_000249.3(MLH1):c.297T>A (p.Phe99Leu) http://identifiers.org/clinvar/90132 ^@ NM_000249.3(MLH1):c.299G>A (p.Arg100Gln) http://identifiers.org/clinvar/90133 ^@ NM_000249.3(MLH1):c.299G>C (p.Arg100Pro) http://identifiers.org/clinvar/90134 ^@ NM_000249.3(MLH1):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/90135 ^@ NM_000249.3(MLH1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/90136 ^@ NM_000249.3(MLH1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/90137 ^@ NM_000249.3(MLH1):c.301G>A (p.Gly101Ser) http://identifiers.org/clinvar/90138 ^@ NM_000249.3(MLH1):c.302G>A (p.Gly101Asp) http://identifiers.org/clinvar/90139 ^@ NM_000249.3(MLH1):c.302G>T (p.Gly101Val) http://identifiers.org/clinvar/90140 ^@ NM_000249.3(MLH1):c.303T>G (p.Gly101=) http://identifiers.org/clinvar/90141 ^@ NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/90142 ^@ NM_000249.3(MLH1):c.306+1G>A http://identifiers.org/clinvar/90143 ^@ NM_000249.3(MLH1):c.306+2dupT http://identifiers.org/clinvar/90144 ^@ NM_000249.3(MLH1):c.306+3A>C http://identifiers.org/clinvar/90145 ^@ NM_000249.3(MLH1):c.306+40G>A http://identifiers.org/clinvar/90146 ^@ NM_000249.3(MLH1):c.306+416A>C http://identifiers.org/clinvar/90147 ^@ NM_000249.3(MLH1):c.306+4A>G http://identifiers.org/clinvar/90148 ^@ NM_000249.3(MLH1):c.306+5G>A http://identifiers.org/clinvar/90149 ^@ NM_000249.3(MLH1):c.306+8A>G http://identifiers.org/clinvar/90150 ^@ NM_000249.3(MLH1):c.306G>C (p.Glu102Asp) http://identifiers.org/clinvar/90151 ^@ NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) http://identifiers.org/clinvar/90152 ^@ NM_000249.3(MLH1):c.307-1403A>T http://identifiers.org/clinvar/90153 ^@ NM_000249.3(MLH1):c.307-1420_380+624del http://identifiers.org/clinvar/90154 ^@ NM_000249.3(MLH1):c.307-1G>C http://identifiers.org/clinvar/90155 ^@ NM_000249.3(MLH1):c.307-245_454-365del http://identifiers.org/clinvar/90156 ^@ NM_000249.3(MLH1):c.307-29C>A http://identifiers.org/clinvar/90157 ^@ NM_000249.3(MLH1):c.307-2A>C http://identifiers.org/clinvar/90158 ^@ NM_000249.3(MLH1):c.307-797_677+1061del http://identifiers.org/clinvar/90159 ^@ NM_000249.3(MLH1):c.307-820_380+896del http://identifiers.org/clinvar/90160 ^@ NM_000249.3(MLH1):c.307-?_(*193_?)del http://identifiers.org/clinvar/90161 ^@ NM_000249.3(MLH1):c.307-?_380+?dup http://identifiers.org/clinvar/90162 ^@ NM_000249.3(MLH1):c.307-?_545+?del http://identifiers.org/clinvar/90163 ^@ NM_000249.3(MLH1):c.307G>C (p.Ala103Pro) http://identifiers.org/clinvar/90164 ^@ NM_000249.3(MLH1):c.318C>A (p.Ser106Arg) http://identifiers.org/clinvar/90165 ^@ NM_000249.3(MLH1):c.318C>G (p.Ser106Arg) http://identifiers.org/clinvar/90166 ^@ NM_000249.3(MLH1):c.31delC (p.Leu11Trpfs) http://identifiers.org/clinvar/90167 ^@ NM_000249.3(MLH1):c.320T>G (p.Ile107Arg) http://identifiers.org/clinvar/90168 ^@ NM_000249.3(MLH1):c.326A>C (p.His109Pro) http://identifiers.org/clinvar/90169 ^@ NM_000249.3(MLH1):c.327T>G (p.His109Gln) http://identifiers.org/clinvar/90170 ^@ NM_000249.3(MLH1):c.331G>C (p.Ala111Pro) http://identifiers.org/clinvar/90171 ^@ NM_000249.3(MLH1):c.332C>T (p.Ala111Val) http://identifiers.org/clinvar/90172 ^@ NM_000249.3(MLH1):c.338T>A (p.Val113Asp) http://identifiers.org/clinvar/90173 ^@ NM_000249.3(MLH1):c.341delC (p.Thr114Ilefs) http://identifiers.org/clinvar/90174 ^@ NM_000249.3(MLH1):c.346delA (p.Thr116Glnfs) http://identifiers.org/clinvar/90175 ^@ NM_000249.3(MLH1):c.346dupA (p.Thr116Asnfs) http://identifiers.org/clinvar/90176 ^@ NM_000249.3(MLH1):c.347C>A (p.Thr116Lys) http://identifiers.org/clinvar/90177 ^@ NM_000249.3(MLH1):c.347C>G (p.Thr116Arg) http://identifiers.org/clinvar/90178 ^@ NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) http://identifiers.org/clinvar/90179 ^@ NM_000249.3(MLH1):c.354_355dupAA (p.Thr119Lysfs) http://identifiers.org/clinvar/90180 ^@ NM_000249.3(MLH1):c.359C>T (p.Ala120Val) http://identifiers.org/clinvar/90181 ^@ NM_000249.3(MLH1):c.367A>T (p.Lys123Ter) http://identifiers.org/clinvar/90182 ^@ NM_000249.3(MLH1):c.372_373delTG (p.Ala125Ilefs) http://identifiers.org/clinvar/90183 ^@ NM_000249.3(MLH1):c.375A>G (p.Ala125=) http://identifiers.org/clinvar/90184 ^@ NM_000249.3(MLH1):c.376T>A (p.Tyr126Asn) http://identifiers.org/clinvar/90185 ^@ NM_000249.3(MLH1):c.377A>G (p.Tyr126Cys) http://identifiers.org/clinvar/90186 ^@ NM_000249.3(MLH1):c.378C>G (p.Tyr126Ter) http://identifiers.org/clinvar/90187 ^@ NM_000249.3(MLH1):c.378delC (p.Tyr126Terfs) http://identifiers.org/clinvar/90188 ^@ NM_000249.3(MLH1):c.379A>C (p.Arg127=) http://identifiers.org/clinvar/90189 ^@ NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) http://identifiers.org/clinvar/90190 ^@ NM_000249.3(MLH1):c.37delG (p.Glu13Argfs) http://identifiers.org/clinvar/90191 ^@ NM_000249.3(MLH1):c.380+1G>A http://identifiers.org/clinvar/90192 ^@ NM_000249.3(MLH1):c.380+2T>A http://identifiers.org/clinvar/90193 ^@ NM_000249.3(MLH1):c.380+2T>C http://identifiers.org/clinvar/90194 ^@ NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) http://identifiers.org/clinvar/90195 ^@ NM_000249.3(MLH1):c.381-2A>G http://identifiers.org/clinvar/90196 ^@ NM_000249.3(MLH1):c.381-415_453+733del http://identifiers.org/clinvar/90197 ^@ NM_000249.3(MLH1):c.381-43C>G http://identifiers.org/clinvar/90198 ^@ NM_000249.3(MLH1):c.381-?_545+?del http://identifiers.org/clinvar/90199 ^@ NM_000249.3(MLH1):c.382G>C (p.Ala128Pro) http://identifiers.org/clinvar/90200 ^@ NM_000249.3(MLH1):c.382_402del21insT (p.Ala128Serfs) http://identifiers.org/clinvar/90201 ^@ NM_000249.3(MLH1):c.382delG (p.Ala128Glnfs) http://identifiers.org/clinvar/90202 ^@ NM_000249.3(MLH1):c.385_386delAGinsGTT (p.Ser129Valfs) http://identifiers.org/clinvar/90203 ^@ NM_000249.3(MLH1):c.388T>C (p.Tyr130His) http://identifiers.org/clinvar/90204 ^@ NM_000249.3(MLH1):c.388delT (p.Tyr130Thrfs) http://identifiers.org/clinvar/90205 ^@ NM_000249.3(MLH1):c.389A>G (p.Tyr130Cys) http://identifiers.org/clinvar/90206 ^@ NM_000249.3(MLH1):c.389delA (p.Tyr130Serfs) http://identifiers.org/clinvar/90207 ^@ NM_000249.3(MLH1):c.38_39insCCCA (p.Glu13Aspfs) http://identifiers.org/clinvar/90208 ^@ NM_000249.3(MLH1):c.392C>A (p.Ser131Ter) http://identifiers.org/clinvar/90209 ^@ NM_000249.3(MLH1):c.397G>T (p.Gly133Ter) http://identifiers.org/clinvar/90210 ^@ NM_000249.3(MLH1):c.39_40dupGA (p.Thr14Argfs) http://identifiers.org/clinvar/90211 ^@ NM_000249.3(MLH1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/90212 ^@ NM_000249.3(MLH1):c.403C>G (p.Leu135Val) http://identifiers.org/clinvar/90213 ^@ NM_000249.3(MLH1):c.404_407delTGAA (p.Leu135Glnfs) http://identifiers.org/clinvar/90214 ^@ NM_000249.3(MLH1):c.420delA (p.Lys140Asnfs) http://identifiers.org/clinvar/90215 ^@ NM_000249.3(MLH1):c.421C>G (p.Pro141Ala) http://identifiers.org/clinvar/90216 ^@ NM_000249.3(MLH1):c.428dupC (p.Gly144Trpfs) http://identifiers.org/clinvar/90217 ^@ NM_000249.3(MLH1):c.436C>T (p.Gln146Ter) http://identifiers.org/clinvar/90218 ^@ NM_000249.3(MLH1):c.439G>C (p.Gly147Arg) http://identifiers.org/clinvar/90219 ^@ NM_000249.3(MLH1):c.445C>T (p.Gln149Ter) http://identifiers.org/clinvar/90220 ^@ NM_000249.3(MLH1):c.447G>C (p.Gln149His) http://identifiers.org/clinvar/90221 ^@ NM_000249.3(MLH1):c.44dupT (p.Val16Glyfs) http://identifiers.org/clinvar/90222 ^@ NM_000249.3(MLH1):c.451_453delACG (p.Thr151del) http://identifiers.org/clinvar/90223 ^@ NM_000249.3(MLH1):c.453+1G>T http://identifiers.org/clinvar/90224 ^@ NM_000249.3(MLH1):c.453+2T>C http://identifiers.org/clinvar/90225 ^@ NM_000249.3(MLH1):c.453+4A>G http://identifiers.org/clinvar/90226 ^@ NM_000249.3(MLH1):c.453+554C>T http://identifiers.org/clinvar/90227 ^@ NM_000249.3(MLH1):c.453+79A>G http://identifiers.org/clinvar/90228 ^@ NM_000249.3(MLH1):c.453+9G>A http://identifiers.org/clinvar/90229 ^@ NM_000249.3(MLH1):c.453G>A (p.Thr151=) http://identifiers.org/clinvar/90230 ^@ NM_000249.3(MLH1):c.454-13A>G http://identifiers.org/clinvar/90231 ^@ NM_000249.3(MLH1):c.454-1G>T http://identifiers.org/clinvar/90232 ^@ NM_000249.3(MLH1):c.454-2A>G http://identifiers.org/clinvar/90233 ^@ NM_000249.3(MLH1):c.454-432_546-1030del http://identifiers.org/clinvar/90234 ^@ NM_000249.3(MLH1):c.454-466_546-1062del http://identifiers.org/clinvar/90235 ^@ NM_000249.3(MLH1):c.454-505_546-1102del http://identifiers.org/clinvar/90236 ^@ NM_000249.3(MLH1):c.454-51T>C http://identifiers.org/clinvar/90237 ^@ NM_000249.3(MLH1):c.454-665_545+49del http://identifiers.org/clinvar/90238 ^@ NM_000249.3(MLH1):c.454-?_1409+?dup http://identifiers.org/clinvar/90239 ^@ NM_000249.3(MLH1):c.454-?_545+?del http://identifiers.org/clinvar/90240 ^@ NM_000249.3(MLH1):c.454-?_677+?dup http://identifiers.org/clinvar/90241 ^@ NM_000249.3(MLH1):c.464T>G (p.Leu155Arg) http://identifiers.org/clinvar/90242 ^@ NM_000249.3(MLH1):c.468_469delTT (p.Phe156Leufs) http://identifiers.org/clinvar/90243 ^@ NM_000249.3(MLH1):c.474C>T (p.Asn158=) http://identifiers.org/clinvar/90244 ^@ NM_000249.3(MLH1):c.479C>T (p.Ala160Val) http://identifiers.org/clinvar/90245 ^@ NM_000249.3(MLH1):c.488delG (p.Arg163Lysfs) http://identifiers.org/clinvar/90246 ^@ NM_000249.3(MLH1):c.497T>A (p.Leu166Ter) http://identifiers.org/clinvar/90247 ^@ NM_000249.3(MLH1):c.497delT (p.Leu166Terfs) http://identifiers.org/clinvar/90248 ^@ NM_000249.3(MLH1):c.498A>C (p.Leu166Phe) http://identifiers.org/clinvar/90249 ^@ NM_000249.3(MLH1):c.502_503delAA (p.Asn168Serfs) http://identifiers.org/clinvar/90250 ^@ NM_000249.3(MLH1):c.503dupA (p.Asn168Lysfs) http://identifiers.org/clinvar/90251 ^@ NM_000249.3(MLH1):c.506C>T (p.Pro169Leu) http://identifiers.org/clinvar/90252 ^@ NM_000249.3(MLH1):c.513delA (p.Glu172Asnfs) http://identifiers.org/clinvar/90253 ^@ NM_000249.3(MLH1):c.524_525insGA (p.Ile176Lysfs) http://identifiers.org/clinvar/90254 ^@ NM_000249.3(MLH1):c.52delC (p.Arg18Alafs) http://identifiers.org/clinvar/90255 ^@ NM_000249.3(MLH1):c.531_532delGGinsAT (p.Glu178Ter) http://identifiers.org/clinvar/90256 ^@ NM_000249.3(MLH1):c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer) http://identifiers.org/clinvar/90257 ^@ NM_000249.3(MLH1):c.539T>G (p.Val180Gly) http://identifiers.org/clinvar/90258 ^@ NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) http://identifiers.org/clinvar/90259 ^@ NM_000249.3(MLH1):c.545+1G>A http://identifiers.org/clinvar/90260 ^@ NM_000249.3(MLH1):c.545+3A>G http://identifiers.org/clinvar/90261 ^@ NM_000249.3(MLH1):c.545+43C>G http://identifiers.org/clinvar/90262 ^@ NM_000249.3(MLH1):c.545+72T>A http://identifiers.org/clinvar/90263 ^@ NM_000249.3(MLH1):c.545+80T>A http://identifiers.org/clinvar/90264 ^@ NM_000249.3(MLH1):c.545G>A (p.Arg182Lys) http://identifiers.org/clinvar/90265 ^@ NM_000249.3(MLH1):c.546-1G>A http://identifiers.org/clinvar/90266 ^@ NM_000249.3(MLH1):c.546-2A>C http://identifiers.org/clinvar/90267 ^@ NM_000249.3(MLH1):c.546-2A>G http://identifiers.org/clinvar/90268 ^@ NM_000249.3(MLH1):c.546-361_885-811del http://identifiers.org/clinvar/90269 ^@ NM_000249.3(MLH1):c.546-?_1409+?dup http://identifiers.org/clinvar/90270 ^@ NM_000249.3(MLH1):c.546-?_677+?del http://identifiers.org/clinvar/90271 ^@ NM_000249.3(MLH1):c.546-?_790+?del http://identifiers.org/clinvar/90272 ^@ NM_000249.3(MLH1):c.554T>G (p.Val185Gly) http://identifiers.org/clinvar/90273 ^@ NM_000249.3(MLH1):c.558C>T (p.His186=) http://identifiers.org/clinvar/90274 ^@ NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) http://identifiers.org/clinvar/90275 ^@ NM_000249.3(MLH1):c.572G>T (p.Ser191Ile) http://identifiers.org/clinvar/90276 ^@ NM_000249.3(MLH1):c.574_588+2del http://identifiers.org/clinvar/90277 ^@ NM_000249.3(MLH1):c.577T>C (p.Ser193Pro) http://identifiers.org/clinvar/90278 ^@ NM_000249.3(MLH1):c.578C>G (p.Ser193Ter) http://identifiers.org/clinvar/90279 ^@ NM_000249.3(MLH1):c.586A>T (p.Lys196Ter) http://identifiers.org/clinvar/90280 ^@ NM_000249.3(MLH1):c.588+1G>T http://identifiers.org/clinvar/90281 ^@ NM_000249.3(MLH1):c.588+1delG http://identifiers.org/clinvar/90282 ^@ NM_000249.3(MLH1):c.588+2T>A http://identifiers.org/clinvar/90283 ^@ NM_000249.3(MLH1):c.588+3_588+6del http://identifiers.org/clinvar/90284 ^@ NM_000249.3(MLH1):c.588+49_588+50del http://identifiers.org/clinvar/90285 ^@ NM_000249.3(MLH1):c.588+5G>A http://identifiers.org/clinvar/90286 ^@ NM_000249.3(MLH1):c.588+5G>C http://identifiers.org/clinvar/90287 ^@ NM_000249.3(MLH1):c.588delA (p.Lys196Asnfs) http://identifiers.org/clinvar/90288 ^@ NM_000249.3(MLH1):c.589-10T>A http://identifiers.org/clinvar/90290 ^@ NM_000249.3(MLH1):c.589-1G>T http://identifiers.org/clinvar/90291 ^@ NM_000249.3(MLH1):c.589-2A>G http://identifiers.org/clinvar/90292 ^@ NM_000249.3(MLH1):c.589-7_589-4del http://identifiers.org/clinvar/90293 ^@ NM_000249.3(MLH1):c.595G>C (p.Glu199Gln) http://identifiers.org/clinvar/90294 ^@ NM_000249.3(MLH1):c.597_598delGA (p.Glu199Aspfs) http://identifiers.org/clinvar/90295 ^@ NM_000249.3(MLH1):c.5C>A (p.Ser2Ter) http://identifiers.org/clinvar/90296 ^@ NM_000249.3(MLH1):c.61delG (p.Ala21Argfs) http://identifiers.org/clinvar/90297 ^@ NM_000249.3(MLH1):c.62C>A (p.Ala21Glu) http://identifiers.org/clinvar/90298 ^@ NM_000249.3(MLH1):c.62C>T (p.Ala21Val) http://identifiers.org/clinvar/90299 ^@ NM_000249.3(MLH1):c.632_633insT (p.Thr212Asnfs) http://identifiers.org/clinvar/90300 ^@ NM_000249.3(MLH1):c.637G>T (p.Val213Leu) http://identifiers.org/clinvar/90301 ^@ NM_000249.3(MLH1):c.644A>G (p.Asn215Ser) http://identifiers.org/clinvar/90302 ^@ NM_000249.3(MLH1):c.647T>G (p.Ile216Ser) http://identifiers.org/clinvar/90303 ^@ NM_000249.3(MLH1):c.649C>T (p.Arg217Cys) http://identifiers.org/clinvar/90304 ^@ NM_000249.3(MLH1):c.649delC (p.Arg217Alafs) http://identifiers.org/clinvar/90305 ^@ NM_000249.3(MLH1):c.655A>C (p.Ile219Leu) http://identifiers.org/clinvar/90306 ^@ NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) http://identifiers.org/clinvar/90307 ^@ NM_000249.3(MLH1):c.665delA (p.Asn222Metfs) http://identifiers.org/clinvar/90308 ^@ NM_000249.3(MLH1):c.665dupA (p.Asn222Lysfs) http://identifiers.org/clinvar/90309 ^@ NM_000249.3(MLH1):c.672delT (p.Ser225Valfs) http://identifiers.org/clinvar/90310 ^@ NM_000249.3(MLH1):c.673_676delAGTC (p.Ser225Glufs) http://identifiers.org/clinvar/90311 ^@ NM_000249.3(MLH1):c.677+1G>A http://identifiers.org/clinvar/90312 ^@ NM_000249.3(MLH1):c.677+1G>T http://identifiers.org/clinvar/90313 ^@ NM_000249.3(MLH1):c.677+1delG http://identifiers.org/clinvar/90314 ^@ NM_000249.3(MLH1):c.677+3A>C http://identifiers.org/clinvar/90315 ^@ NM_000249.3(MLH1):c.677+3A>G http://identifiers.org/clinvar/90316 ^@ NM_000249.3(MLH1):c.677+4dupT http://identifiers.org/clinvar/90317 ^@ NM_000249.3(MLH1):c.677+5G>A http://identifiers.org/clinvar/90318 ^@ NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) http://identifiers.org/clinvar/90319 ^@ NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) http://identifiers.org/clinvar/90320 ^@ NM_000249.3(MLH1):c.677_677+1delinsAT http://identifiers.org/clinvar/90321 ^@ NM_000249.3(MLH1):c.677_677+1insT http://identifiers.org/clinvar/90322 ^@ NM_000249.3(MLH1):c.678-1G>C http://identifiers.org/clinvar/90323 ^@ NM_000249.3(MLH1):c.678-1G>T http://identifiers.org/clinvar/90324 ^@ NM_000249.3(MLH1):c.678-2A>G http://identifiers.org/clinvar/90325 ^@ NM_000249.3(MLH1):c.678-3T>A http://identifiers.org/clinvar/90326 ^@ NM_000249.3(MLH1):c.678-3_678-2del http://identifiers.org/clinvar/90327 ^@ NM_000249.3(MLH1):c.678-9_693del http://identifiers.org/clinvar/90328 ^@ NM_000249.3(MLH1):c.678-?_1558+?del http://identifiers.org/clinvar/90329 ^@ NM_000249.3(MLH1):c.678-?_884+?del http://identifiers.org/clinvar/90330 ^@ NM_000249.3(MLH1):c.67G>A (p.Glu23Lys) http://identifiers.org/clinvar/90331 ^@ NM_000249.3(MLH1):c.67G>T (p.Glu23Ter) http://identifiers.org/clinvar/90332 ^@ NM_000249.3(MLH1):c.67delG (p.Glu23Lysfs) http://identifiers.org/clinvar/90333 ^@ NM_000249.3(MLH1):c.683dupT (p.Ile229Aspfs) http://identifiers.org/clinvar/90334 ^@ NM_000249.3(MLH1):c.693delT (p.Ile231Metfs) http://identifiers.org/clinvar/90335 ^@ NM_000249.3(MLH1):c.69A>T (p.Glu23Asp) http://identifiers.org/clinvar/90336 ^@ NM_000249.3(MLH1):c.701A>G (p.Glu234Gly) http://identifiers.org/clinvar/90337 ^@ NM_000249.3(MLH1):c.70delG (p.Val24Leufs) http://identifiers.org/clinvar/90338 ^@ NM_000249.3(MLH1):c.727_730delAATG (p.Asn243Valfs) http://identifiers.org/clinvar/90339 ^@ NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) http://identifiers.org/clinvar/90340 ^@ NM_000249.3(MLH1):c.731G>T (p.Gly244Val) http://identifiers.org/clinvar/90341 ^@ NM_000249.3(MLH1):c.731_734delGTTA (p.Gly244Alafs) http://identifiers.org/clinvar/90342 ^@ NM_000249.3(MLH1):c.739T>C (p.Ser247Pro) http://identifiers.org/clinvar/90343 ^@ NM_000249.3(MLH1):c.73A>T (p.Ile25Phe) http://identifiers.org/clinvar/90344 ^@ NM_000249.3(MLH1):c.73delA (p.Ile25Serfs) http://identifiers.org/clinvar/90345 ^@ NM_000249.3(MLH1):c.745dupG (p.Ala249Glyfs) http://identifiers.org/clinvar/90346 ^@ NM_000249.3(MLH1):c.74T>C (p.Ile25Thr) http://identifiers.org/clinvar/90347 ^@ NM_000249.3(MLH1):c.76C>T (p.Gln26Ter) http://identifiers.org/clinvar/90348 ^@ NM_000249.3(MLH1):c.76delC (p.Gln26Serfs) http://identifiers.org/clinvar/90349 ^@ NM_000249.3(MLH1):c.778C>T (p.Leu260Phe) http://identifiers.org/clinvar/90350 ^@ NM_000249.3(MLH1):c.779T>G (p.Leu260Arg) http://identifiers.org/clinvar/90351 ^@ NM_000249.3(MLH1):c.780C>G (p.Leu260=) http://identifiers.org/clinvar/90352 ^@ NM_000249.3(MLH1):c.785_787delTCA (p.Ile262del) http://identifiers.org/clinvar/90353 ^@ NM_000249.3(MLH1):c.788A>C (p.Asn263Thr) http://identifiers.org/clinvar/90354 ^@ NM_000249.3(MLH1):c.78delG (p.Gln26Hisfs) http://identifiers.org/clinvar/90355 ^@ NM_000249.3(MLH1):c.790+10A>G http://identifiers.org/clinvar/90356 ^@ NM_000249.3(MLH1):c.790+1G>A http://identifiers.org/clinvar/90357 ^@ NM_000249.3(MLH1):c.790+1G>C http://identifiers.org/clinvar/90358 ^@ NM_000249.3(MLH1):c.790+1delG http://identifiers.org/clinvar/90359 ^@ NM_000249.3(MLH1):c.790+2T>A http://identifiers.org/clinvar/90360 ^@ NM_000249.3(MLH1):c.790+2T>C http://identifiers.org/clinvar/90361 ^@ NM_000249.3(MLH1):c.790+2dupT http://identifiers.org/clinvar/90362 ^@ NM_000249.3(MLH1):c.790+3A>T http://identifiers.org/clinvar/90363 ^@ NM_000249.3(MLH1):c.790+4A>G http://identifiers.org/clinvar/90364 ^@ NM_000249.3(MLH1):c.790+5G>T http://identifiers.org/clinvar/90365 ^@ NM_000249.3(MLH1):c.790+62G>A http://identifiers.org/clinvar/90366 ^@ NM_000249.3(MLH1):c.790+955C>A http://identifiers.org/clinvar/90367 ^@ NM_000249.3(MLH1):c.790C>T (p.His264Tyr) http://identifiers.org/clinvar/90368 ^@ NM_000249.3(MLH1):c.791-1406C>T http://identifiers.org/clinvar/90369 ^@ NM_000249.3(MLH1):c.791-1G>C http://identifiers.org/clinvar/90370 ^@ NM_000249.3(MLH1):c.791-1G>T http://identifiers.org/clinvar/90371 ^@ NM_000249.3(MLH1):c.791-23delG http://identifiers.org/clinvar/90372 ^@ NM_000249.3(MLH1):c.791-2A>G http://identifiers.org/clinvar/90373 ^@ NM_000249.3(MLH1):c.791-4_795del http://identifiers.org/clinvar/90374 ^@ NM_000249.3(MLH1):c.791-5T>G http://identifiers.org/clinvar/90375 ^@ NM_000249.3(MLH1):c.791-7T>A http://identifiers.org/clinvar/90376 ^@ NM_000249.3(MLH1):c.791-?_1558+?del http://identifiers.org/clinvar/90377 ^@ NM_000249.3(MLH1):c.791-?_884+?del http://identifiers.org/clinvar/90378 ^@ NM_000249.3(MLH1):c.791A>G (p.His264Arg) http://identifiers.org/clinvar/90379 ^@ NM_000249.3(MLH1):c.791_794delATCG (p.His264Leufs) http://identifiers.org/clinvar/90380 ^@ NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) http://identifiers.org/clinvar/90381 ^@ NM_000249.3(MLH1):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/90382 ^@ NM_000249.3(MLH1):c.803A>G (p.Glu268Gly) http://identifiers.org/clinvar/90383 ^@ NM_000249.3(MLH1):c.808_811delACTT (p.Thr270Profs) http://identifiers.org/clinvar/90384 ^@ NM_000249.3(MLH1):c.811_815delTCCTT (p.Ser271Glufs) http://identifiers.org/clinvar/90385 ^@ NM_000249.3(MLH1):c.814T>G (p.Leu272Val) http://identifiers.org/clinvar/90386 ^@ NM_000249.3(MLH1):c.821_824dupAAGC (p.Ile276Serfs) http://identifiers.org/clinvar/90387 ^@ NM_000249.3(MLH1):c.838T>G (p.Tyr280Asp) http://identifiers.org/clinvar/90388 ^@ NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) http://identifiers.org/clinvar/90389 ^@ NM_000249.3(MLH1):c.840T>A (p.Tyr280Ter) http://identifiers.org/clinvar/90390 ^@ NM_000249.3(MLH1):c.842C>T (p.Ala281Val) http://identifiers.org/clinvar/90391 ^@ NM_000249.3(MLH1):c.845C>G (p.Ala282Gly) http://identifiers.org/clinvar/90392 ^@ NM_000249.3(MLH1):c.84delA (p.Ala29Leufs) http://identifiers.org/clinvar/90393 ^@ NM_000249.3(MLH1):c.851T>A (p.Leu284Ter) http://identifiers.org/clinvar/90394 ^@ NM_000249.3(MLH1):c.856A>C (p.Lys286Gln) http://identifiers.org/clinvar/90395 ^@ NM_000249.3(MLH1):c.856_857insT (p.Lys286Ilefs) http://identifiers.org/clinvar/90396 ^@ NM_000249.3(MLH1):c.859_860delAA (p.Asn287Hisfs) http://identifiers.org/clinvar/90397 ^@ NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) http://identifiers.org/clinvar/90398 ^@ NM_000249.3(MLH1):c.860delA (p.Asn287Thrfs) http://identifiers.org/clinvar/90399 ^@ NM_000249.3(MLH1):c.860dupA (p.Asn287Lysfs) http://identifiers.org/clinvar/90400 ^@ NM_000249.3(MLH1):c.861C>T (p.Asn287=) http://identifiers.org/clinvar/90401 ^@ NM_000249.3(MLH1):c.866_867delAC (p.His289Profs) http://identifiers.org/clinvar/90402 ^@ NM_000249.3(MLH1):c.866_867dupAC (p.Pro290Thrfs) http://identifiers.org/clinvar/90403 ^@ NM_000249.3(MLH1):c.86C>G (p.Ala29Gly) http://identifiers.org/clinvar/90404 ^@ NM_000249.3(MLH1):c.875T>C (p.Leu292Pro) http://identifiers.org/clinvar/90405 ^@ NM_000249.3(MLH1):c.877T>G (p.Tyr293Asp) http://identifiers.org/clinvar/90406 ^@ NM_000249.3(MLH1):c.882C>G (p.Leu294=) http://identifiers.org/clinvar/90407 ^@ NM_000249.3(MLH1):c.882C>T (p.Leu294=) http://identifiers.org/clinvar/90408 ^@ NM_000249.3(MLH1):c.883A>C (p.Ser295Arg) http://identifiers.org/clinvar/90409 ^@ NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) http://identifiers.org/clinvar/90410 ^@ NM_000249.3(MLH1):c.884+15A>G http://identifiers.org/clinvar/90411 ^@ NM_000249.3(MLH1):c.884+2T>C http://identifiers.org/clinvar/90412 ^@ NM_000249.3(MLH1):c.884+39G>A http://identifiers.org/clinvar/90413 ^@ NM_000249.3(MLH1):c.884+3A>G http://identifiers.org/clinvar/90414 ^@ NM_000249.3(MLH1):c.884+4A>G http://identifiers.org/clinvar/90415 ^@ NM_000249.3(MLH1):c.884G>A (p.Ser295Asn) http://identifiers.org/clinvar/90416 ^@ NM_000249.3(MLH1):c.884G>C (p.Ser295Thr) http://identifiers.org/clinvar/90417 ^@ NM_000249.3(MLH1):c.884_884+3del http://identifiers.org/clinvar/90418 ^@ NM_000249.3(MLH1):c.885-16_885-15delCT http://identifiers.org/clinvar/90419 ^@ NM_000249.3(MLH1):c.885-206_997del http://identifiers.org/clinvar/90420 ^@ NM_000249.3(MLH1):c.885-24T>A http://identifiers.org/clinvar/90421 ^@ NM_000249.3(MLH1):c.885-2A>G http://identifiers.org/clinvar/90422 ^@ NM_000249.3(MLH1):c.885-493_1039-372del http://identifiers.org/clinvar/90423 ^@ NM_000249.3(MLH1):c.885-594_1038+1123del http://identifiers.org/clinvar/90424 ^@ NM_000249.3(MLH1):c.885-5G>T http://identifiers.org/clinvar/90425 ^@ NM_000249.3(MLH1):c.885-81G>C http://identifiers.org/clinvar/90426 ^@ NM_000249.3(MLH1):c.885-9_887dup http://identifiers.org/clinvar/90427 ^@ NM_000249.3(MLH1):c.885-?_(*193_?)del http://identifiers.org/clinvar/90428 ^@ NM_000249.3(MLH1):c.885-?_1038+?del http://identifiers.org/clinvar/90429 ^@ NM_000249.3(MLH1):c.885-?_1731+?del http://identifiers.org/clinvar/90430 ^@ NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) http://identifiers.org/clinvar/90431 ^@ NM_000249.3(MLH1):c.887dupT (p.Leu296Phefs) http://identifiers.org/clinvar/90432 ^@ NM_000249.3(MLH1):c.888delA (p.Glu297Lysfs) http://identifiers.org/clinvar/90433 ^@ NM_000249.3(MLH1):c.889G>A (p.Glu297Lys) http://identifiers.org/clinvar/90434 ^@ NM_000249.3(MLH1):c.889G>T (p.Glu297Ter) http://identifiers.org/clinvar/90435 ^@ NM_000249.3(MLH1):c.901C>T (p.Gln301Ter) http://identifiers.org/clinvar/90436 ^@ NM_000249.3(MLH1):c.901delC (p.Gln301Argfs) http://identifiers.org/clinvar/90437 ^@ NM_000249.3(MLH1):c.908T>A (p.Val303Glu) http://identifiers.org/clinvar/90438 ^@ NM_000249.3(MLH1):c.911A>G (p.Asp304Gly) http://identifiers.org/clinvar/90439 ^@ NM_000249.3(MLH1):c.911A>T (p.Asp304Val) http://identifiers.org/clinvar/90440 ^@ NM_000249.3(MLH1):c.914_937del24 (p.Val305_His312del) http://identifiers.org/clinvar/90441 ^@ NM_000249.3(MLH1):c.918T>A (p.Asn306Lys) http://identifiers.org/clinvar/90442 ^@ NM_000249.3(MLH1):c.91_92delGCinsTG (p.Ala31Cys) http://identifiers.org/clinvar/90443 ^@ NM_000249.3(MLH1):c.921_922dupGC (p.His308Argfs) http://identifiers.org/clinvar/90444 ^@ NM_000249.3(MLH1):c.925C>T (p.Pro309Ser) http://identifiers.org/clinvar/90445 ^@ NM_000249.3(MLH1):c.927C>T (p.Pro309=) http://identifiers.org/clinvar/90446 ^@ NM_000249.3(MLH1):c.928delA (p.Thr310Glnfs) http://identifiers.org/clinvar/90447 ^@ NM_000249.3(MLH1):c.930A>C (p.Thr310=) http://identifiers.org/clinvar/90448 ^@ NM_000249.3(MLH1):c.935dupA (p.His312Glnfs) http://identifiers.org/clinvar/90449 ^@ NM_000249.3(MLH1):c.939dupA (p.Val314Serfs) http://identifiers.org/clinvar/90450 ^@ NM_000249.3(MLH1):c.949C>A (p.Leu317Met) http://identifiers.org/clinvar/90451 ^@ NM_000249.3(MLH1):c.954delC (p.His318Glnfs) http://identifiers.org/clinvar/90452 ^@ NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) http://identifiers.org/clinvar/90453 ^@ NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) http://identifiers.org/clinvar/90454 ^@ NM_000249.3(MLH1):c.960G>C (p.Glu320Asp) http://identifiers.org/clinvar/90455 ^@ NM_000249.3(MLH1):c.962G>T (p.Ser321Ile) http://identifiers.org/clinvar/90456 ^@ NM_000249.3(MLH1):c.974G>A (p.Arg325Gln) http://identifiers.org/clinvar/90457 ^@ NM_000249.3(MLH1):c.974_982delGGGTGCAGC (p.Arg325_Gln327del) http://identifiers.org/clinvar/90458 ^@ NM_000249.3(MLH1):c.982C>T (p.Gln328Ter) http://identifiers.org/clinvar/90459 ^@ NM_000249.3(MLH1):c.985C>A (p.His329Asn) http://identifiers.org/clinvar/90460 ^@ NM_000249.3(MLH1):c.988_990delATC (p.Ile330del) http://identifiers.org/clinvar/90461 ^@ NM_000249.3(MLH1):c.994delA (p.Ser332Alafs) http://identifiers.org/clinvar/90462 ^@ NM_000249.3(MLH1):c.9delC (p.Phe3Leufs) http://identifiers.org/clinvar/242651 ^@ NM_000249.3(MLH1):c.453+625_545+921delinsTG http://identifiers.org/clinvar/242650 ^@ NM_000249.3(MLH1):c.545+1271_677+737delinsCA http://identifiers.org/clinvar/90464 ^@ NM_000251.1(MSH2):c.(?_-68)_(*272_?)del http://identifiers.org/clinvar/90465 ^@ NM_000251.2(MSH2):c.(?_-68)_1076+?del http://identifiers.org/clinvar/90466 ^@ NM_000251.2(MSH2):c.(?_-68)_1076+?dup http://identifiers.org/clinvar/90467 ^@ NM_000251.2(MSH2):c.(?_-68)_1276+?del http://identifiers.org/clinvar/90468 ^@ NM_000251.2(MSH2):c.(?_-68)_1386+?del http://identifiers.org/clinvar/90469 ^@ NM_000251.2(MSH2):c.(?_-68)_1661+?del http://identifiers.org/clinvar/90470 ^@ NM_000251.2(MSH2):c.(?_-68)_1759+?del http://identifiers.org/clinvar/90471 ^@ NM_000251.2(MSH2):c.(?_-68)_211+?del http://identifiers.org/clinvar/90472 ^@ NM_000251.2(MSH2):c.(?_-68)_2634+?del http://identifiers.org/clinvar/90473 ^@ NM_000251.2(MSH2):c.(?_-68)_366+?del http://identifiers.org/clinvar/90474 ^@ NM_000251.2(MSH2):c.(?_-68)_645+?del http://identifiers.org/clinvar/90475 ^@ NM_000251.2(MSH2):c.(?_-68)_645+?dup http://identifiers.org/clinvar/90476 ^@ NM_000251.2(MSH2):c.(?_-68)_792+?del http://identifiers.org/clinvar/90477 ^@ NM_000251.2(MSH2):c.(?_-68)_942+?del http://identifiers.org/clinvar/90478 ^@ NM_000251.2(MSH2):c.*129T>C http://identifiers.org/clinvar/90479 ^@ NM_000251.2(MSH2):c.*221G>T http://identifiers.org/clinvar/90480 ^@ NM_000251.2(MSH2):c.*226A>G http://identifiers.org/clinvar/90481 ^@ NM_000251.2(MSH2):c.*272+2420A>C http://identifiers.org/clinvar/90482 ^@ NM_000251.2(MSH2):c.*272+4059G>A http://identifiers.org/clinvar/90483 ^@ NM_000251.2(MSH2):c.*95C>T http://identifiers.org/clinvar/90484 ^@ NM_000251.1(MSH2):c.-11844_1077-6021delins155 http://identifiers.org/clinvar/90485 ^@ NM_000251.2(MSH2):c.-68-50T>C http://identifiers.org/clinvar/90486 ^@ NM_000251.1(MSH2):c.-1753_645+922del http://identifiers.org/clinvar/90487 ^@ NM_000251.2(MSH2):c.-68-122C>T http://identifiers.org/clinvar/90488 ^@ NM_000251.2(MSH2):c.-68-157G>C http://identifiers.org/clinvar/90489 ^@ NM_000251.1(MSH2):c.-35298_1276+5697del http://identifiers.org/clinvar/90490 ^@ NM_000251.2(MSH2):c.-68-365T>G http://identifiers.org/clinvar/90491 ^@ NM_000251.1(MSH2):c.-47156_1277-4980del http://identifiers.org/clinvar/90492 ^@ NM_000251.1(MSH2):c.-4729_367-353del http://identifiers.org/clinvar/90493 ^@ NM_000251.1(MSH2):c.-75398_1759+1708del http://identifiers.org/clinvar/90494 ^@ NM_000251.2(MSH2):c.-68-10_-68-9del http://identifiers.org/clinvar/90495 ^@ NM_000251.2(MSH2):c.-81dupA http://identifiers.org/clinvar/90496 ^@ NM_000251.1(MSH2):c.-823_1076+5984del http://identifiers.org/clinvar/90497 ^@ NM_000251.1(MSH2):c.-956_1077-5607del http://identifiers.org/clinvar/90498 ^@ NM_000251.2(MSH2):c.1000A>T (p.Lys334Ter) http://identifiers.org/clinvar/90499 ^@ NM_000251.2(MSH2):c.1004C>T (p.Thr335Ile) http://identifiers.org/clinvar/90500 ^@ NM_000251.2(MSH2):c.1006C>T (p.Pro336Ser) http://identifiers.org/clinvar/90501 ^@ NM_000251.2(MSH2):c.1007delC (p.Pro336Leufs) http://identifiers.org/clinvar/90502 ^@ NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) http://identifiers.org/clinvar/90503 ^@ NM_000251.2(MSH2):c.1012G>A (p.Gly338Arg) http://identifiers.org/clinvar/90504 ^@ NM_000251.2(MSH2):c.1013G>A (p.Gly338Glu) http://identifiers.org/clinvar/90505 ^@ NM_000251.2(MSH2):c.1017_1018delAA (p.Arg340Thrfs) http://identifiers.org/clinvar/90506 ^@ NM_000251.2(MSH2):c.1018dupA (p.Arg340Lysfs) http://identifiers.org/clinvar/90507 ^@ NM_000251.2(MSH2):c.1022T>C (p.Leu341Pro) http://identifiers.org/clinvar/90508 ^@ NM_000251.2(MSH2):c.1024G>A (p.Val342Ile) http://identifiers.org/clinvar/90509 ^@ NM_000251.2(MSH2):c.1034G>A (p.Trp345Ter) http://identifiers.org/clinvar/90510 ^@ NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter) http://identifiers.org/clinvar/90511 ^@ NM_000251.2(MSH2):c.1037_1038dupTT (p.Lys347Leufs) http://identifiers.org/clinvar/90512 ^@ NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) http://identifiers.org/clinvar/90513 ^@ NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) http://identifiers.org/clinvar/90514 ^@ NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) http://identifiers.org/clinvar/90515 ^@ NM_000251.2(MSH2):c.1059delG (p.Asn354Thrfs) http://identifiers.org/clinvar/90516 ^@ NM_000251.2(MSH2):c.1069G>C (p.Glu357Gln) http://identifiers.org/clinvar/90517 ^@ NM_000251.2(MSH2):c.1075A>T (p.Arg359Ter) http://identifiers.org/clinvar/90518 ^@ NM_000251.2(MSH2):c.1076+17T>G http://identifiers.org/clinvar/90519 ^@ NM_000251.2(MSH2):c.1076+1G>A http://identifiers.org/clinvar/90520 ^@ NM_000251.2(MSH2):c.1076+1G>T http://identifiers.org/clinvar/90521 ^@ NM_000251.2(MSH2):c.1076+3400C>T http://identifiers.org/clinvar/90522 ^@ NM_000251.2(MSH2):c.1076+3A>T http://identifiers.org/clinvar/90523 ^@ NM_000251.2(MSH2):c.1077-135_1276+119dup http://identifiers.org/clinvar/90524 ^@ NM_000251.2(MSH2):c.1077-1G>C http://identifiers.org/clinvar/90525 ^@ NM_000251.2(MSH2):c.1077-1G>T http://identifiers.org/clinvar/90526 ^@ NM_000251.2(MSH2):c.1077-2037G>T http://identifiers.org/clinvar/90527 ^@ NM_000251.2(MSH2):c.1077-220_1276+6245del http://identifiers.org/clinvar/90528 ^@ NM_000251.2(MSH2):c.1077-2A>C http://identifiers.org/clinvar/90529 ^@ NM_000251.2(MSH2):c.1077-2A>G http://identifiers.org/clinvar/90530 ^@ NM_000251.2(MSH2):c.1077-2A>T http://identifiers.org/clinvar/90531 ^@ NM_000251.2(MSH2):c.1077-35A>G http://identifiers.org/clinvar/90532 ^@ NM_000251.2(MSH2):c.1077-?_*(272_?)del http://identifiers.org/clinvar/90533 ^@ NM_000251.2(MSH2):c.1077-?_1276+?del http://identifiers.org/clinvar/90534 ^@ NM_000251.2(MSH2):c.1077-?_1276+?dup200 http://identifiers.org/clinvar/90535 ^@ NM_000251.2(MSH2):c.1077-?_1386+?del http://identifiers.org/clinvar/90536 ^@ NM_000251.2(MSH2):c.1077-?_1386+?dup310 http://identifiers.org/clinvar/90537 ^@ NM_000251.2(MSH2):c.1077-?_1661+?del http://identifiers.org/clinvar/90538 ^@ NM_000251.2(MSH2):c.1077-?_2005+?del http://identifiers.org/clinvar/90539 ^@ NM_000251.2(MSH2):c.1077A>T (p.Arg359Ser) http://identifiers.org/clinvar/90540 ^@ NM_000251.2(MSH2):c.1077_1078ins173 (p.?) http://identifiers.org/clinvar/90541 ^@ NM_000251.2(MSH2):c.1082A>G (p.Asn361Ser) http://identifiers.org/clinvar/90542 ^@ NM_000251.2(MSH2):c.1086A>T (p.Leu362Phe) http://identifiers.org/clinvar/90543 ^@ NM_000251.2(MSH2):c.1097_1098insA (p.Phe366Leufs) http://identifiers.org/clinvar/90544 ^@ NM_000251.2(MSH2):c.1099delG (p.Val367Terfs) http://identifiers.org/clinvar/90545 ^@ NM_000251.2(MSH2):c.1108delG (p.Ala370Glnfs) http://identifiers.org/clinvar/90546 ^@ NM_000251.2(MSH2):c.110delT (p.Phe37Serfs) http://identifiers.org/clinvar/90547 ^@ NM_000251.2(MSH2):c.1119delG (p.Arg373Serfs) http://identifiers.org/clinvar/90548 ^@ NM_000251.2(MSH2):c.1120C>T (p.Gln374Ter) http://identifiers.org/clinvar/90549 ^@ NM_000251.2(MSH2):c.1127_1128dupTA (p.Gln377Tyrfs) http://identifiers.org/clinvar/90550 ^@ NM_000251.2(MSH2):c.1129C>T (p.Gln377Ter) http://identifiers.org/clinvar/90551 ^@ NM_000251.2(MSH2):c.1139delT (p.Leu380Tyrfs) http://identifiers.org/clinvar/90552 ^@ NM_000251.2(MSH2):c.1144dupC (p.Arg382Profs) http://identifiers.org/clinvar/90553 ^@ NM_000251.2(MSH2):c.1145G>A (p.Arg382His) http://identifiers.org/clinvar/90554 ^@ NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) http://identifiers.org/clinvar/90555 ^@ NM_000251.2(MSH2):c.114C>G (p.Asp38Glu) http://identifiers.org/clinvar/90556 ^@ NM_000251.2(MSH2):c.1154C>T (p.Pro385Leu) http://identifiers.org/clinvar/90557 ^@ NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) http://identifiers.org/clinvar/90558 ^@ NM_000251.2(MSH2):c.1183C>T (p.Gln395Ter) http://identifiers.org/clinvar/90559 ^@ NM_000251.2(MSH2):c.1189C>T (p.Gln397Ter) http://identifiers.org/clinvar/90560 ^@ NM_000251.2(MSH2):c.118G>A (p.Gly40Ser) http://identifiers.org/clinvar/90561 ^@ NM_000251.2(MSH2):c.1192dupG (p.Ala398Glyfs) http://identifiers.org/clinvar/90562 ^@ NM_000251.2(MSH2):c.1196_1197dupCA (p.Asn400Glnfs) http://identifiers.org/clinvar/90563 ^@ NM_000251.2(MSH2):c.119delG (p.Gly40Alafs) http://identifiers.org/clinvar/90564 ^@ NM_000251.2(MSH2):c.1203dupA (p.Gln402Thrfs) http://identifiers.org/clinvar/90565 ^@ NM_000251.2(MSH2):c.1204C>T (p.Gln402Ter) http://identifiers.org/clinvar/90566 ^@ NM_000251.2(MSH2):c.1204delC (p.Gln402Lysfs) http://identifiers.org/clinvar/90567 ^@ NM_000251.2(MSH2):c.1215C>A (p.Tyr405Ter) http://identifiers.org/clinvar/90568 ^@ NM_000251.2(MSH2):c.1216_1219dupCGAC (p.Leu407Profs) http://identifiers.org/clinvar/90569 ^@ NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) http://identifiers.org/clinvar/90570 ^@ NM_000251.2(MSH2):c.1221C>G (p.Leu407=) http://identifiers.org/clinvar/90571 ^@ NM_000251.2(MSH2):c.1221C>T (p.Leu407=) http://identifiers.org/clinvar/90572 ^@ NM_000251.2(MSH2):c.1221_1222delCT (p.Tyr408Serfs) http://identifiers.org/clinvar/90573 ^@ NM_000251.2(MSH2):c.1222dupT (p.Tyr408Leufs) http://identifiers.org/clinvar/90574 ^@ NM_000251.2(MSH2):c.1223A>G (p.Tyr408Cys) http://identifiers.org/clinvar/90575 ^@ NM_000251.2(MSH2):c.1224T>C (p.Tyr408=) http://identifiers.org/clinvar/90576 ^@ NM_000251.2(MSH2):c.1225C>A (p.Gln409Lys) http://identifiers.org/clinvar/90577 ^@ NM_000251.2(MSH2):c.1226_1227delAG (p.Gln409Argfs) http://identifiers.org/clinvar/90578 ^@ NM_000251.2(MSH2):c.1236_1268del33 (p.Asn412_Glu422del) http://identifiers.org/clinvar/90579 ^@ NM_000251.2(MSH2):c.1241T>C (p.Leu414Pro) http://identifiers.org/clinvar/90580 ^@ NM_000251.2(MSH2):c.1243_1246delCCTA (p.Pro415Metfs) http://identifiers.org/clinvar/90581 ^@ NM_000251.2(MSH2):c.1249_1253delGTTAT (p.Val417Thrfs) http://identifiers.org/clinvar/90582 ^@ NM_000251.2(MSH2):c.1249delG (p.Val417Leufs) http://identifiers.org/clinvar/90583 ^@ NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) http://identifiers.org/clinvar/90584 ^@ NM_000251.2(MSH2):c.1255C>T (p.Gln419Ter) http://identifiers.org/clinvar/90585 ^@ NM_000251.2(MSH2):c.1261C>A (p.Leu421Met) http://identifiers.org/clinvar/90586 ^@ NM_000251.2(MSH2):c.1262T>C (p.Leu421Pro) http://identifiers.org/clinvar/90587 ^@ NM_000251.2(MSH2):c.1264G>T (p.Glu422Ter) http://identifiers.org/clinvar/90588 ^@ NM_000251.2(MSH2):c.1269dupA (p.His424Thrfs) http://identifiers.org/clinvar/90589 ^@ NM_000251.2(MSH2):c.1275A>G (p.Glu425=) http://identifiers.org/clinvar/90590 ^@ NM_000251.2(MSH2):c.1276+1G>A http://identifiers.org/clinvar/90591 ^@ NM_000251.2(MSH2):c.1276+1G>C http://identifiers.org/clinvar/90592 ^@ NM_000251.2(MSH2):c.1276+1G>T http://identifiers.org/clinvar/90593 ^@ NM_000251.1(MSH2):c.1276+232_1386+3798del http://identifiers.org/clinvar/90594 ^@ NM_000251.2(MSH2):c.1276+23dup http://identifiers.org/clinvar/90595 ^@ NM_000251.2(MSH2):c.1276+2T>A http://identifiers.org/clinvar/90596 ^@ NM_000251.2(MSH2):c.1276+47T>A http://identifiers.org/clinvar/90597 ^@ NM_000251.2(MSH2):c.1276+51C>A http://identifiers.org/clinvar/90598 ^@ NM_000251.2(MSH2):c.1276+6765G>A http://identifiers.org/clinvar/90599 ^@ NM_000251.2(MSH2):c.1277-118G>A http://identifiers.org/clinvar/90600 ^@ NM_000251.2(MSH2):c.1277-14C>G http://identifiers.org/clinvar/90601 ^@ NM_000251.2(MSH2):c.1277-1G>A http://identifiers.org/clinvar/90602 ^@ NM_000251.2(MSH2):c.1277-1G>C http://identifiers.org/clinvar/90603 ^@ NM_000251.2(MSH2):c.1277-212T>A http://identifiers.org/clinvar/90604 ^@ NM_000251.2(MSH2):c.1277-2A>C http://identifiers.org/clinvar/90605 ^@ NM_000251.2(MSH2):c.1277-2A>G http://identifiers.org/clinvar/90606 ^@ NM_000251.2(MSH2):c.1277-572_1386+2326del http://identifiers.org/clinvar/90607 ^@ NM_000251.2(MSH2):c.1277-5849T>C http://identifiers.org/clinvar/90608 ^@ NM_000251.2(MSH2):c.1277-6990T>G http://identifiers.org/clinvar/90609 ^@ NM_000251.2(MSH2):c.1277-945A>C http://identifiers.org/clinvar/90610 ^@ NM_000251.2(MSH2):c.1277-?_*(272_?)del http://identifiers.org/clinvar/90611 ^@ NM_000251.2(MSH2):c.1277-?_*(272_?)inv http://identifiers.org/clinvar/90612 ^@ NM_000251.2(MSH2):c.1277-?_1386+?del http://identifiers.org/clinvar/90613 ^@ NM_000251.2(MSH2):c.1277-?_1661+?del http://identifiers.org/clinvar/90614 ^@ NM_000251.2(MSH2):c.1277-?_1759+?del http://identifiers.org/clinvar/90615 ^@ NM_000251.2(MSH2):c.1277-?_2634+?del http://identifiers.org/clinvar/90616 ^@ NM_000251.2(MSH2):c.1285C>T (p.Gln429Ter) http://identifiers.org/clinvar/90617 ^@ NM_000251.2(MSH2):c.1287dupG (p.Lys430Glufs) http://identifiers.org/clinvar/90618 ^@ NM_000251.2(MSH2):c.1288A>T (p.Lys430Ter) http://identifiers.org/clinvar/90619 ^@ NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) http://identifiers.org/clinvar/90620 ^@ NM_000251.2(MSH2):c.1292T>A (p.Leu431Ter) http://identifiers.org/clinvar/90621 ^@ NM_000251.2(MSH2):c.129T>G (p.Tyr43Ter) http://identifiers.org/clinvar/90622 ^@ NM_000251.2(MSH2):c.1311_1334del24insNM_000251.1:c.1338_1361inv24 (p.Thr438_Ser445delinsPheSerLysPheGlnGluMetIle) http://identifiers.org/clinvar/90623 ^@ NM_000251.2(MSH2):c.1316_1318delCTC (p.Pro439del) http://identifiers.org/clinvar/90624 ^@ NM_000251.2(MSH2):c.1318_1319delCT (p.Leu440Tyrfs) http://identifiers.org/clinvar/90625 ^@ NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro) http://identifiers.org/clinvar/90626 ^@ NM_000251.2(MSH2):c.1319_1326delTTACTGATinsCC (p.Leu440_Asp442delinsPro) http://identifiers.org/clinvar/90627 ^@ NM_000251.2(MSH2):c.131C>T (p.Thr44Met) http://identifiers.org/clinvar/90628 ^@ NM_000251.2(MSH2):c.1321A>C (p.Thr441Pro) http://identifiers.org/clinvar/90629 ^@ NM_000251.2(MSH2):c.1321dupA (p.Thr441Asnfs) http://identifiers.org/clinvar/90630 ^@ NM_000251.2(MSH2):c.1339T>G (p.Phe447Val) http://identifiers.org/clinvar/90631 ^@ NM_000251.2(MSH2):c.1340_1341insGG (p.Phe447Leufs) http://identifiers.org/clinvar/90632 ^@ NM_000251.2(MSH2):c.1345A>T (p.Lys449Ter) http://identifiers.org/clinvar/90633 ^@ NM_000251.2(MSH2):c.1345_1348delAAGT (p.Lys449Phefs) http://identifiers.org/clinvar/90634 ^@ NM_000251.2(MSH2):c.134C>T (p.Ala45Val) http://identifiers.org/clinvar/90635 ^@ NM_000251.2(MSH2):c.1352_1353delAG (p.Gln451Argfs) http://identifiers.org/clinvar/90636 ^@ NM_000251.2(MSH2):c.1354G>T (p.Glu452Ter) http://identifiers.org/clinvar/90637 ^@ NM_000251.2(MSH2):c.1356A>G (p.Glu452=) http://identifiers.org/clinvar/90638 ^@ NM_000251.2(MSH2):c.1358T>A (p.Met453Lys) http://identifiers.org/clinvar/90639 ^@ NM_000251.2(MSH2):c.136_164del29 (p.His46Glyfs) http://identifiers.org/clinvar/90640 ^@ NM_000251.2(MSH2):c.1373T>G (p.Leu458Ter) http://identifiers.org/clinvar/90641 ^@ NM_000251.2(MSH2):c.1386+1G>A http://identifiers.org/clinvar/90642 ^@ NM_000251.2(MSH2):c.1386+1G>C http://identifiers.org/clinvar/90643 ^@ NM_000251.2(MSH2):c.1386+1G>T http://identifiers.org/clinvar/90644 ^@ NM_000251.2(MSH2):c.1386+73G>A http://identifiers.org/clinvar/90645 ^@ NM_000251.2(MSH2):c.1387-1G>T http://identifiers.org/clinvar/90646 ^@ NM_000251.2(MSH2):c.1387-250G>A http://identifiers.org/clinvar/90647 ^@ NM_000251.1(MSH2):c.1387-3976_1662-364del http://identifiers.org/clinvar/90648 ^@ NM_000251.2(MSH2):c.1387-9T>A http://identifiers.org/clinvar/90649 ^@ NM_000251.2(MSH2):c.1387-?_*(272_?)del http://identifiers.org/clinvar/90650 ^@ NM_000251.2(MSH2):c.1387-?_1510+?del http://identifiers.org/clinvar/90651 ^@ NM_000251.2(MSH2):c.1387-?_1661+?del http://identifiers.org/clinvar/90652 ^@ NM_000251.2(MSH2):c.1387-?_1661+?dup275 http://identifiers.org/clinvar/90653 ^@ NM_000251.2(MSH2):c.1387-?_2458+?del http://identifiers.org/clinvar/90654 ^@ NM_000251.2(MSH2):c.138C>G (p.His46Gln) http://identifiers.org/clinvar/90655 ^@ NM_000251.2(MSH2):c.1390delG (p.Glu464Lysfs) http://identifiers.org/clinvar/90656 ^@ NM_000251.2(MSH2):c.1399G>T (p.Glu467Ter) http://identifiers.org/clinvar/90657 ^@ NM_000251.2(MSH2):c.1408delG (p.Val470Terfs) http://identifiers.org/clinvar/90658 ^@ NM_000251.2(MSH2):c.1409T>A (p.Val470Glu) http://identifiers.org/clinvar/90659 ^@ NM_000251.2(MSH2):c.1418C>G (p.Ser473Ter) http://identifiers.org/clinvar/90660 ^@ NM_000251.2(MSH2):c.1418C>T (p.Ser473Leu) http://identifiers.org/clinvar/90661 ^@ NM_000251.2(MSH2):c.141C>A (p.Gly47=) http://identifiers.org/clinvar/90662 ^@ NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) http://identifiers.org/clinvar/90663 ^@ NM_000251.2(MSH2):c.1433_1434dupTC (p.Glu480Valfs) http://identifiers.org/clinvar/90664 ^@ NM_000251.2(MSH2):c.1444A>T (p.Arg482Ter) http://identifiers.org/clinvar/90665 ^@ NM_000251.2(MSH2):c.1444delA (p.Arg482Glufs) http://identifiers.org/clinvar/90666 ^@ NM_000251.2(MSH2):c.1444dupA (p.Arg482Lysfs) http://identifiers.org/clinvar/90667 ^@ NM_000251.2(MSH2):c.1445_1449delGAGAA (p.Arg482Asnfs) http://identifiers.org/clinvar/90668 ^@ NM_000251.2(MSH2):c.1447G>T (p.Glu483Ter) http://identifiers.org/clinvar/90669 ^@ NM_000251.2(MSH2):c.1447_1448delGA (p.Glu483Asnfs) http://identifiers.org/clinvar/90670 ^@ NM_000251.2(MSH2):c.1457_1460delATGA (p.Asn486Thrfs) http://identifiers.org/clinvar/90671 ^@ NM_000251.2(MSH2):c.1457delA (p.Asn486Metfs) http://identifiers.org/clinvar/90672 ^@ NM_000251.2(MSH2):c.145_146delGA (p.Asp49Argfs) http://identifiers.org/clinvar/90673 ^@ NM_000251.2(MSH2):c.145delG (p.Asp49Thrfs) http://identifiers.org/clinvar/90674 ^@ NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) http://identifiers.org/clinvar/90675 ^@ NM_000251.2(MSH2):c.146A>T (p.Asp49Val) http://identifiers.org/clinvar/90676 ^@ NM_000251.2(MSH2):c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer) http://identifiers.org/clinvar/90677 ^@ NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter) http://identifiers.org/clinvar/90678 ^@ NM_000251.2(MSH2):c.1487T>A (p.Leu496Ter) http://identifiers.org/clinvar/90679 ^@ NM_000251.2(MSH2):c.1488A>G (p.Leu496=) http://identifiers.org/clinvar/90680 ^@ NM_000251.2(MSH2):c.1494dupT (p.Ala499Cysfs) http://identifiers.org/clinvar/90681 ^@ NM_000251.2(MSH2):c.1497delA (p.Ala500Profs) http://identifiers.org/clinvar/90682 ^@ NM_000251.2(MSH2):c.14C>A (p.Pro5Gln) http://identifiers.org/clinvar/90683 ^@ NM_000251.2(MSH2):c.1500dupC (p.Arg501Glnfs) http://identifiers.org/clinvar/90684 ^@ NM_000251.2(MSH2):c.1508T>C (p.Leu503Pro) http://identifiers.org/clinvar/90685 ^@ NM_000251.2(MSH2):c.1510G>C (p.Gly504Arg) http://identifiers.org/clinvar/90686 ^@ NM_000251.2(MSH2):c.1511-10G>T http://identifiers.org/clinvar/90687 ^@ NM_000251.2(MSH2):c.1511-1516C>T http://identifiers.org/clinvar/90688 ^@ NM_000251.2(MSH2):c.1511-2A>G http://identifiers.org/clinvar/90689 ^@ NM_000251.2(MSH2):c.1511-91G>T http://identifiers.org/clinvar/90690 ^@ NM_000251.2(MSH2):c.1511-?_2005+?del http://identifiers.org/clinvar/90691 ^@ NM_000251.2(MSH2):c.1516G>T (p.Asp506Tyr) http://identifiers.org/clinvar/90692 ^@ NM_000251.2(MSH2):c.1522G>A (p.Gly508Ser) http://identifiers.org/clinvar/90693 ^@ NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter) http://identifiers.org/clinvar/90694 ^@ NM_000251.2(MSH2):c.1547G>T (p.Ser516Ile) http://identifiers.org/clinvar/90695 ^@ NM_000251.2(MSH2):c.154_155insG (p.Leu52Argfs) http://identifiers.org/clinvar/90696 ^@ NM_000251.2(MSH2):c.1552C>T (p.Gln518Ter) http://identifiers.org/clinvar/90697 ^@ NM_000251.2(MSH2):c.1552_1553delCA (p.Gln518Valfs) http://identifiers.org/clinvar/90698 ^@ NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) http://identifiers.org/clinvar/90699 ^@ NM_000251.2(MSH2):c.1566C>G (p.Tyr522Ter) http://identifiers.org/clinvar/90700 ^@ NM_000251.2(MSH2):c.1567T>A (p.Phe523Ile) http://identifiers.org/clinvar/90701 ^@ NM_000251.2(MSH2):c.1571G>T (p.Arg524Leu) http://identifiers.org/clinvar/90702 ^@ NM_000251.2(MSH2):c.1576delA (p.Thr526Profs) http://identifiers.org/clinvar/90703 ^@ NM_000251.2(MSH2):c.1578delC (p.Cys527Valfs) http://identifiers.org/clinvar/90704 ^@ NM_000251.2(MSH2):c.1587delA (p.Glu530Lysfs) http://identifiers.org/clinvar/90705 ^@ NM_000251.2(MSH2):c.1593_1613del21 (p.Lys531_Lys537del) http://identifiers.org/clinvar/90706 ^@ NM_000251.2(MSH2):c.1594dupG (p.Val532Glyfs) http://identifiers.org/clinvar/90707 ^@ NM_000251.2(MSH2):c.1600C>T (p.Arg534Cys) http://identifiers.org/clinvar/90708 ^@ NM_000251.2(MSH2):c.1602T>A (p.Arg534=) http://identifiers.org/clinvar/90709 ^@ NM_000251.2(MSH2):c.1605C>T (p.Asn535=) http://identifiers.org/clinvar/90710 ^@ NM_000251.2(MSH2):c.1627delG (p.Asp543Ilefs) http://identifiers.org/clinvar/90711 ^@ NM_000251.2(MSH2):c.1638_1639dupGA (p.Asn547Argfs) http://identifiers.org/clinvar/90712 ^@ NM_000251.2(MSH2):c.163delC (p.Arg55Glyfs) http://identifiers.org/clinvar/90713 ^@ NM_000251.2(MSH2):c.1640A>G (p.Asn547Ser) http://identifiers.org/clinvar/90714 ^@ NM_000251.2(MSH2):c.1642G>T (p.Gly548Cys) http://identifiers.org/clinvar/90715 ^@ NM_000251.2(MSH2):c.1654A>C (p.Thr552Pro) http://identifiers.org/clinvar/90716 ^@ NM_000251.2(MSH2):c.1660A>C (p.Ser554Arg) http://identifiers.org/clinvar/90717 ^@ NM_000251.2(MSH2):c.1660A>G (p.Ser554Gly) http://identifiers.org/clinvar/90718 ^@ NM_000251.2(MSH2):c.1660A>T (p.Ser554Cys) http://identifiers.org/clinvar/90719 ^@ NM_000251.2(MSH2):c.1661+1G>A http://identifiers.org/clinvar/90720 ^@ NM_000251.2(MSH2):c.1661+1G>T http://identifiers.org/clinvar/90721 ^@ NM_000251.2(MSH2):c.1661+5G>C http://identifiers.org/clinvar/90722 ^@ NM_000251.2(MSH2):c.1661+6C>T http://identifiers.org/clinvar/90723 ^@ NM_000251.2(MSH2):c.1661+90T>C http://identifiers.org/clinvar/90724 ^@ NM_000251.2(MSH2):c.1661G>C (p.Ser554Thr) http://identifiers.org/clinvar/90725 ^@ NM_000251.2(MSH2):c.1662-17dup http://identifiers.org/clinvar/90726 ^@ NM_000251.2(MSH2):c.1662-18T>C http://identifiers.org/clinvar/90727 ^@ NM_000251.2(MSH2):c.1662-1G>A http://identifiers.org/clinvar/90728 ^@ NM_000251.2(MSH2):c.1662-2A>G http://identifiers.org/clinvar/90729 ^@ NM_000251.1(MSH2):c.1662-374_2458+467del http://identifiers.org/clinvar/90730 ^@ NM_000251.2(MSH2):c.1662-9G>A http://identifiers.org/clinvar/90731 ^@ NM_000251.2(MSH2):c.1662-?_*(272_?)del http://identifiers.org/clinvar/90732 ^@ NM_000251.2(MSH2):c.1662-?_*(272_?)dup http://identifiers.org/clinvar/90733 ^@ NM_000251.2(MSH2):c.1662-?_1759+?del http://identifiers.org/clinvar/90734 ^@ NM_000251.2(MSH2):c.1662-?_1759+?dup98 http://identifiers.org/clinvar/90735 ^@ NM_000251.2(MSH2):c.1662-?_2458+?del http://identifiers.org/clinvar/90736 ^@ NM_000251.2(MSH2):c.1665delA (p.Lys555Asnfs) http://identifiers.org/clinvar/90737 ^@ NM_000251.2(MSH2):c.1667T>C (p.Leu556Ser) http://identifiers.org/clinvar/90738 ^@ NM_000251.2(MSH2):c.1667_1668insA (p.Thr557Aspfs) http://identifiers.org/clinvar/90739 ^@ NM_000251.2(MSH2):c.1667delT (p.Leu556Terfs) http://identifiers.org/clinvar/90740 ^@ NM_000251.2(MSH2):c.1669A>C (p.Thr557Pro) http://identifiers.org/clinvar/90741 ^@ NM_000251.2(MSH2):c.166G>T (p.Glu56Ter) http://identifiers.org/clinvar/90742 ^@ NM_000251.2(MSH2):c.166delG (p.Glu56Argfs) http://identifiers.org/clinvar/90743 ^@ NM_000251.2(MSH2):c.1676delT (p.Leu559Terfs) http://identifiers.org/clinvar/90744 ^@ NM_000251.2(MSH2):c.1680T>C (p.Asn560=) http://identifiers.org/clinvar/90745 ^@ NM_000251.2(MSH2):c.1681G>A (p.Glu561Lys) http://identifiers.org/clinvar/90746 ^@ NM_000251.2(MSH2):c.1683delA (p.Glu562Serfs) http://identifiers.org/clinvar/90747 ^@ NM_000251.2(MSH2):c.1685A>T (p.Glu562Val) http://identifiers.org/clinvar/90748 ^@ NM_000251.2(MSH2):c.1687dupT (p.Tyr563Leufs) http://identifiers.org/clinvar/90749 ^@ NM_000251.2(MSH2):c.1688A>C (p.Tyr563Ser) http://identifiers.org/clinvar/90750 ^@ NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) http://identifiers.org/clinvar/90751 ^@ NM_000251.2(MSH2):c.1693A>T (p.Lys565Ter) http://identifiers.org/clinvar/90752 ^@ NM_000251.2(MSH2):c.1696_1697delAA (p.Asn566Terfs) http://identifiers.org/clinvar/90753 ^@ NM_000251.2(MSH2):c.1699A>T (p.Lys567Ter) http://identifiers.org/clinvar/90754 ^@ NM_000251.2(MSH2):c.169G>A (p.Val57Met) http://identifiers.org/clinvar/90755 ^@ NM_000251.2(MSH2):c.1700_1704delAAACA (p.Lys567Argfs) http://identifiers.org/clinvar/90756 ^@ NM_000251.2(MSH2):c.1702dupA (p.Thr568Asnfs) http://identifiers.org/clinvar/90757 ^@ NM_000251.2(MSH2):c.1705_1706dupGA (p.Tyr570Asnfs) http://identifiers.org/clinvar/90758 ^@ NM_000251.2(MSH2):c.1705_1706insT (p.Glu569Valfs) http://identifiers.org/clinvar/90759 ^@ NM_000251.2(MSH2):c.1717delG (p.Ala573Profs) http://identifiers.org/clinvar/90760 ^@ NM_000251.2(MSH2):c.1720C>T (p.Gln574Ter) http://identifiers.org/clinvar/90761 ^@ NM_000251.2(MSH2):c.1720delC (p.Gln574Argfs) http://identifiers.org/clinvar/90762 ^@ NM_000251.2(MSH2):c.1726G>C (p.Ala576Pro) http://identifiers.org/clinvar/90763 ^@ NM_000251.2(MSH2):c.1738G>T (p.Glu580Ter) http://identifiers.org/clinvar/90764 ^@ NM_000251.2(MSH2):c.1748A>C (p.Asn583Thr) http://identifiers.org/clinvar/90765 ^@ NM_000251.2(MSH2):c.1755T>C (p.Ser585=) http://identifiers.org/clinvar/90766 ^@ NM_000251.2(MSH2):c.1759+1G>A http://identifiers.org/clinvar/90767 ^@ NM_000251.2(MSH2):c.1759+2T>A http://identifiers.org/clinvar/90768 ^@ NM_000251.2(MSH2):c.1759+2T>C http://identifiers.org/clinvar/90769 ^@ NM_000251.1(MSH2):c.1759+305_2006-34del http://identifiers.org/clinvar/90770 ^@ NM_000251.2(MSH2):c.1759+501A>G http://identifiers.org/clinvar/90771 ^@ NM_000251.2(MSH2):c.1759G>C (p.Gly587Arg) http://identifiers.org/clinvar/90772 ^@ NM_000251.2(MSH2):c.1760-110_1760-108dup http://identifiers.org/clinvar/90773 ^@ NM_000251.2(MSH2):c.1760-1G>A http://identifiers.org/clinvar/90774 ^@ NM_000251.1(MSH2):c.1760-361_2634+838del http://identifiers.org/clinvar/90775 ^@ NM_000251.2(MSH2):c.1760-62G>A http://identifiers.org/clinvar/90776 ^@ NM_000251.2(MSH2):c.1760-?_*(272_?)del http://identifiers.org/clinvar/90777 ^@ NM_000251.2(MSH2):c.1760-?_2005+?del http://identifiers.org/clinvar/90778 ^@ NM_000251.2(MSH2):c.1760-?_2210+?del http://identifiers.org/clinvar/90779 ^@ NM_000251.2(MSH2):c.1760delG (p.Gly587Alafs) http://identifiers.org/clinvar/90780 ^@ NM_000251.2(MSH2):c.1764T>G (p.Tyr588Ter) http://identifiers.org/clinvar/90781 ^@ NM_000251.2(MSH2):c.1771_1772insA (p.Pro591Hisfs) http://identifiers.org/clinvar/90782 ^@ NM_000251.2(MSH2):c.1774A>G (p.Met592Val) http://identifiers.org/clinvar/90783 ^@ NM_000251.2(MSH2):c.1777C>T (p.Gln593Ter) http://identifiers.org/clinvar/90784 ^@ NM_000251.2(MSH2):c.1779_1782delGACA (p.Gln593Hisfs) http://identifiers.org/clinvar/90785 ^@ NM_000251.2(MSH2):c.1781_1782insCT (p.Leu595Tyrfs) http://identifiers.org/clinvar/90787 ^@ NM_000251.2(MSH2):c.1787dupA (p.Asn596Lysfs) http://identifiers.org/clinvar/90788 ^@ NM_000251.2(MSH2):c.1788_1789delTG (p.Asn596Lysfs) http://identifiers.org/clinvar/90789 ^@ NM_000251.2(MSH2):c.1799C>T (p.Ala600Val) http://identifiers.org/clinvar/90790 ^@ NM_000251.2(MSH2):c.1807G>A (p.Asp603Asn) http://identifiers.org/clinvar/90791 ^@ NM_000251.2(MSH2):c.1808A>G (p.Asp603Gly) http://identifiers.org/clinvar/90792 ^@ NM_000251.2(MSH2):c.1809delT (p.Asp603Glufs) http://identifiers.org/clinvar/90793 ^@ NM_000251.2(MSH2):c.1815_1817delTGT (p.Val606del) http://identifiers.org/clinvar/90794 ^@ NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) http://identifiers.org/clinvar/90795 ^@ NM_000251.2(MSH2):c.1826C>T (p.Ala609Val) http://identifiers.org/clinvar/90796 ^@ NM_000251.2(MSH2):c.1827delT (p.His610Thrfs) http://identifiers.org/clinvar/90797 ^@ NM_000251.2(MSH2):c.1828C>A (p.His610Asn) http://identifiers.org/clinvar/90798 ^@ NM_000251.2(MSH2):c.182A>C (p.Gln61Pro) http://identifiers.org/clinvar/90799 ^@ NM_000251.2(MSH2):c.1835C>G (p.Ser612Ter) http://identifiers.org/clinvar/90800 ^@ NM_000251.2(MSH2):c.1853delC (p.Pro618Hisfs) http://identifiers.org/clinvar/90801 ^@ NM_000251.2(MSH2):c.1856A>G (p.Tyr619Cys) http://identifiers.org/clinvar/90802 ^@ NM_000251.2(MSH2):c.1857T>G (p.Tyr619Ter) http://identifiers.org/clinvar/90803 ^@ NM_000251.2(MSH2):c.1858_1859dupGT (p.Arg621Tyrfs) http://identifiers.org/clinvar/90804 ^@ NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) http://identifiers.org/clinvar/90805 ^@ NM_000251.2(MSH2):c.1864C>A (p.Pro622Thr) http://identifiers.org/clinvar/90806 ^@ NM_000251.2(MSH2):c.186_187dupGG (p.Val63Glyfs) http://identifiers.org/clinvar/90807 ^@ NM_000251.2(MSH2):c.1873T>G (p.Leu625Val) http://identifiers.org/clinvar/90808 ^@ NM_000251.2(MSH2):c.187delG (p.Val63Terfs) http://identifiers.org/clinvar/90809 ^@ NM_000251.2(MSH2):c.187dupG (p.Val63Glyfs) http://identifiers.org/clinvar/90810 ^@ NM_000251.2(MSH2):c.1881A>C (p.Lys627Asn) http://identifiers.org/clinvar/90811 ^@ NM_000251.2(MSH2):c.1885C>T (p.Gln629Ter) http://identifiers.org/clinvar/90812 ^@ NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) http://identifiers.org/clinvar/90813 ^@ NM_000251.2(MSH2):c.1889_1892delGAAG (p.Gly630Glufs) http://identifiers.org/clinvar/90814 ^@ NM_000251.2(MSH2):c.1897dupA (p.Ile633Asnfs) http://identifiers.org/clinvar/90815 ^@ NM_000251.2(MSH2):c.1907C>T (p.Ala636Val) http://identifiers.org/clinvar/90816 ^@ NM_000251.2(MSH2):c.1911delC (p.Arg638Glyfs) http://identifiers.org/clinvar/90817 ^@ NM_000251.2(MSH2):c.1912A>G (p.Arg638Gly) http://identifiers.org/clinvar/90818 ^@ NM_000251.2(MSH2):c.1916A>G (p.His639Arg) http://identifiers.org/clinvar/90819 ^@ NM_000251.2(MSH2):c.1917T>A (p.His639Gln) http://identifiers.org/clinvar/90820 ^@ NM_000251.2(MSH2):c.1921T>G (p.Cys641Gly) http://identifiers.org/clinvar/90821 ^@ NM_000251.2(MSH2):c.1924_1925delGT (p.Val642Terfs) http://identifiers.org/clinvar/90822 ^@ NM_000251.2(MSH2):c.1933C>G (p.Gln645Glu) http://identifiers.org/clinvar/90823 ^@ NM_000251.2(MSH2):c.1955C>A (p.Pro652His) http://identifiers.org/clinvar/90824 ^@ NM_000251.2(MSH2):c.1967_1970dupACTT (p.Phe657Leufs) http://identifiers.org/clinvar/90825 ^@ NM_000251.2(MSH2):c.1968C>G (p.Tyr656Ter) http://identifiers.org/clinvar/90826 ^@ NM_000251.2(MSH2):c.1980_1981delTA (p.Asp660Glufs) http://identifiers.org/clinvar/90827 ^@ NM_000251.2(MSH2):c.1982_1985delAACA (p.Lys661Argfs) http://identifiers.org/clinvar/90828 ^@ NM_000251.2(MSH2):c.1984_1985delCA (p.Gln662Aspfs) http://identifiers.org/clinvar/90829 ^@ NM_000251.2(MSH2):c.1986_1987delGA (p.Gln662Hisfs) http://identifiers.org/clinvar/90830 ^@ NM_000251.2(MSH2):c.1986delG (p.Met663Cysfs) http://identifiers.org/clinvar/90831 ^@ NM_000251.2(MSH2):c.1996_1997delAT (p.Ile666Hisfs) http://identifiers.org/clinvar/90832 ^@ NM_000251.2(MSH2):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/90833 ^@ NM_000251.2(MSH2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/90834 ^@ NM_000251.2(MSH2):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/90835 ^@ NM_000251.2(MSH2):c.2005+1G>A http://identifiers.org/clinvar/90836 ^@ NM_000251.2(MSH2):c.2005+1G>C http://identifiers.org/clinvar/90837 ^@ NM_000251.2(MSH2):c.2005+1G>T http://identifiers.org/clinvar/90838 ^@ NM_000251.2(MSH2):c.2005+25T>G http://identifiers.org/clinvar/90839 ^@ NM_000251.2(MSH2):c.2005+2T>C http://identifiers.org/clinvar/90840 ^@ NM_000251.2(MSH2):c.2005+2_2005+12del http://identifiers.org/clinvar/90841 ^@ NM_000251.2(MSH2):c.2005+2del http://identifiers.org/clinvar/90842 ^@ NM_000251.2(MSH2):c.2005+3_2005+14del12 http://identifiers.org/clinvar/90843 ^@ NM_000251.2(MSH2):c.2005+8dupA http://identifiers.org/clinvar/90844 ^@ NM_000251.2(MSH2):c.2005G>C (p.Gly669Arg) http://identifiers.org/clinvar/90845 ^@ NM_000251.2(MSH2):c.2006-1G>C http://identifiers.org/clinvar/90846 ^@ NM_000251.2(MSH2):c.2006-265A>G http://identifiers.org/clinvar/90847 ^@ NM_000251.2(MSH2):c.2006-2A>G http://identifiers.org/clinvar/90848 ^@ NM_000251.2(MSH2):c.2006-36_2006-33dup http://identifiers.org/clinvar/90849 ^@ NM_000251.2(MSH2):c.2006-5T>A http://identifiers.org/clinvar/90850 ^@ NM_000251.2(MSH2):c.2006-6T>G http://identifiers.org/clinvar/90851 ^@ NM_000251.2(MSH2):c.2006-?_2210+?del http://identifiers.org/clinvar/90852 ^@ NM_000251.2(MSH2):c.2006G>A (p.Gly669Asp) http://identifiers.org/clinvar/90853 ^@ NM_000251.2(MSH2):c.2006G>C (p.Gly669Ala) http://identifiers.org/clinvar/90854 ^@ NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) http://identifiers.org/clinvar/90855 ^@ NM_000251.2(MSH2):c.2009C>T (p.Pro670Leu) http://identifiers.org/clinvar/90856 ^@ NM_000251.2(MSH2):c.2010delC (p.Asn671Ilefs) http://identifiers.org/clinvar/90857 ^@ NM_000251.2(MSH2):c.2011A>T (p.Asn671Tyr) http://identifiers.org/clinvar/90858 ^@ NM_000251.2(MSH2):c.2013T>A (p.Asn671Lys) http://identifiers.org/clinvar/90859 ^@ NM_000251.2(MSH2):c.2015delT (p.Met672Argfs) http://identifiers.org/clinvar/90860 ^@ NM_000251.2(MSH2):c.2020G>C (p.Gly674Arg) http://identifiers.org/clinvar/90861 ^@ NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) http://identifiers.org/clinvar/90862 ^@ NM_000251.2(MSH2):c.2021_2022delGT (p.Gly674Glufs) http://identifiers.org/clinvar/90863 ^@ NM_000251.2(MSH2):c.2023_2025delAAAinsGCC (p.Lys675Ala) http://identifiers.org/clinvar/90864 ^@ NM_000251.2(MSH2):c.2026T>C (p.Ser676Pro) http://identifiers.org/clinvar/90865 ^@ NM_000251.2(MSH2):c.2035_2036delAT (p.Ile679Serfs) http://identifiers.org/clinvar/90866 ^@ NM_000251.2(MSH2):c.2045C>T (p.Thr682Ile) http://identifiers.org/clinvar/90867 ^@ NM_000251.2(MSH2):c.2046_2047delTG (p.Val684Aspfs) http://identifiers.org/clinvar/90868 ^@ NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) http://identifiers.org/clinvar/90869 ^@ NM_000251.2(MSH2):c.2047G>T (p.Gly683Trp) http://identifiers.org/clinvar/90870 ^@ NM_000251.2(MSH2):c.2048_2111dup64 (p.Ile704Metfs) http://identifiers.org/clinvar/90871 ^@ NM_000251.2(MSH2):c.204delG (p.Pro69Argfs) http://identifiers.org/clinvar/90872 ^@ NM_000251.2(MSH2):c.2056_2082del27insTATATGTTGTGCCATGTGAATATA (p.Val686_Phe694delinsTyrMetLeuCysHisValAsnIle) http://identifiers.org/clinvar/90873 ^@ NM_000251.2(MSH2):c.2060T>C (p.Leu687Pro) http://identifiers.org/clinvar/90874 ^@ NM_000251.2(MSH2):c.2063T>G (p.Met688Arg) http://identifiers.org/clinvar/90875 ^@ NM_000251.2(MSH2):c.2064G>A (p.Met688Ile) http://identifiers.org/clinvar/90876 ^@ NM_000251.2(MSH2):c.2068C>G (p.Gln690Glu) http://identifiers.org/clinvar/90877 ^@ NM_000251.2(MSH2):c.2071dupA (p.Ile691Asnfs) http://identifiers.org/clinvar/90878 ^@ NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) http://identifiers.org/clinvar/90879 ^@ NM_000251.2(MSH2):c.2074_2081delGGGTGTTT (p.Gly692Cysfs) http://identifiers.org/clinvar/90880 ^@ NM_000251.2(MSH2):c.2075G>T (p.Gly692Val) http://identifiers.org/clinvar/90881 ^@ NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) http://identifiers.org/clinvar/90882 ^@ NM_000251.2(MSH2):c.2089T>C (p.Cys697Arg) http://identifiers.org/clinvar/90883 ^@ NM_000251.2(MSH2):c.2090G>T (p.Cys697Phe) http://identifiers.org/clinvar/90884 ^@ NM_000251.2(MSH2):c.2091T>A (p.Cys697Ter) http://identifiers.org/clinvar/90885 ^@ NM_000251.2(MSH2):c.2096C>G (p.Ser699Ter) http://identifiers.org/clinvar/90886 ^@ NM_000251.2(MSH2):c.20delA (p.Glu7Glyfs) http://identifiers.org/clinvar/90887 ^@ NM_000251.2(MSH2):c.2105T>G (p.Val702Gly) http://identifiers.org/clinvar/90888 ^@ NM_000251.2(MSH2):c.2108C>A (p.Ser703Tyr) http://identifiers.org/clinvar/90889 ^@ NM_000251.1(MSH2):c.211+1566_1277-3954del http://identifiers.org/clinvar/90890 ^@ NM_000251.2(MSH2):c.211+8C>G http://identifiers.org/clinvar/90891 ^@ NM_000251.2(MSH2):c.211+98T>C http://identifiers.org/clinvar/90892 ^@ NM_000251.2(MSH2):c.212-1G>A http://identifiers.org/clinvar/90893 ^@ NM_000251.2(MSH2):c.212-2A>G http://identifiers.org/clinvar/90894 ^@ NM_000251.2(MSH2):c.212-478T>G http://identifiers.org/clinvar/90895 ^@ NM_000251.2(MSH2):c.212-?_1076+?del http://identifiers.org/clinvar/90896 ^@ NM_000251.2(MSH2):c.212-?_1276+?del http://identifiers.org/clinvar/90897 ^@ NM_000251.2(MSH2):c.212-?_1386+?del http://identifiers.org/clinvar/90898 ^@ NM_000251.2(MSH2):c.212-?_1510+?del http://identifiers.org/clinvar/90899 ^@ NM_000251.2(MSH2):c.212-?_2458+?del http://identifiers.org/clinvar/90900 ^@ NM_000251.2(MSH2):c.212-?_366+?del http://identifiers.org/clinvar/90901 ^@ NM_000251.2(MSH2):c.212-?_645+?del http://identifiers.org/clinvar/90902 ^@ NM_000251.2(MSH2):c.2123T>A (p.Ile708Asn) http://identifiers.org/clinvar/90903 ^@ NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) http://identifiers.org/clinvar/90904 ^@ NM_000251.2(MSH2):c.2135dupT (p.Gly713Argfs) http://identifiers.org/clinvar/90905 ^@ NM_000251.2(MSH2):c.2139G>C (p.Gly713=) http://identifiers.org/clinvar/90906 ^@ NM_000251.2(MSH2):c.2139G>T (p.Gly713=) http://identifiers.org/clinvar/90907 ^@ NM_000251.2(MSH2):c.2141C>T (p.Ala714Val) http://identifiers.org/clinvar/90908 ^@ NM_000251.2(MSH2):c.2141dupC (p.Gly715Trpfs) http://identifiers.org/clinvar/90909 ^@ NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) http://identifiers.org/clinvar/90910 ^@ NM_000251.2(MSH2):c.2154A>G (p.Gln718=) http://identifiers.org/clinvar/90911 ^@ NM_000251.2(MSH2):c.2160_2163delAGGA (p.Gly721Serfs) http://identifiers.org/clinvar/90912 ^@ NM_000251.2(MSH2):c.2167dupT (p.Ser723Phefs) http://identifiers.org/clinvar/90913 ^@ NM_000251.2(MSH2):c.2168C>T (p.Ser723Phe) http://identifiers.org/clinvar/90914 ^@ NM_000251.2(MSH2):c.2187G>T (p.Met729Ile) http://identifiers.org/clinvar/90915 ^@ NM_000251.2(MSH2):c.2191G>T (p.Glu731Ter) http://identifiers.org/clinvar/90916 ^@ NM_000251.2(MSH2):c.2194_2196delACT (p.Thr732del) http://identifiers.org/clinvar/90917 ^@ NM_000251.2(MSH2):c.219G>A (p.Lys73=) http://identifiers.org/clinvar/90918 ^@ NM_000251.2(MSH2):c.21dupG (p.Thr8Aspfs) http://identifiers.org/clinvar/90919 ^@ NM_000251.2(MSH2):c.2204delT (p.Ile735Thrfs) http://identifiers.org/clinvar/90920 ^@ NM_000251.1(MSH2):c.2210+116_2562del http://identifiers.org/clinvar/90921 ^@ NM_000251.2(MSH2):c.2210+1G>A http://identifiers.org/clinvar/90922 ^@ NM_000251.2(MSH2):c.2210+1G>C http://identifiers.org/clinvar/90923 ^@ NM_000251.2(MSH2):c.2210+274T>G http://identifiers.org/clinvar/90924 ^@ NM_000251.2(MSH2):c.2210+317G>C http://identifiers.org/clinvar/90925 ^@ NM_000251.2(MSH2):c.2210+77T>A http://identifiers.org/clinvar/90926 ^@ NM_000251.2(MSH2):c.2210+8dupC http://identifiers.org/clinvar/90927 ^@ NM_000251.2(MSH2):c.2211-10T>A http://identifiers.org/clinvar/90928 ^@ NM_000251.2(MSH2):c.2211-1G>T http://identifiers.org/clinvar/90929 ^@ NM_000251.2(MSH2):c.2211-2A>C http://identifiers.org/clinvar/90930 ^@ NM_000251.2(MSH2):c.2211-2A>T http://identifiers.org/clinvar/90931 ^@ NM_000251.2(MSH2):c.2211-?_2458+?del http://identifiers.org/clinvar/90932 ^@ NM_000251.2(MSH2):c.2228C>A (p.Ser743Ter) http://identifiers.org/clinvar/90933 ^@ NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) http://identifiers.org/clinvar/90934 ^@ NM_000251.2(MSH2):c.2228_2231delCATT (p.Ser743Terfs) http://identifiers.org/clinvar/90935 ^@ NM_000251.2(MSH2):c.2231T>G (p.Leu744Ter) http://identifiers.org/clinvar/90936 ^@ NM_000251.2(MSH2):c.2235_2237dupAAT (p.Ile747_Asp748insIle) http://identifiers.org/clinvar/90937 ^@ NM_000251.2(MSH2):c.2236_2241delATCATA (p.Ile746_Ile747del) http://identifiers.org/clinvar/90938 ^@ NM_000251.2(MSH2):c.2237_2238insA (p.Ile747Hisfs) http://identifiers.org/clinvar/90939 ^@ NM_000251.2(MSH2):c.223_224delCT (p.Leu75Alafs) http://identifiers.org/clinvar/90940 ^@ NM_000251.2(MSH2):c.2240_2241delTA (p.Ile747Argfs) http://identifiers.org/clinvar/90941 ^@ NM_000251.2(MSH2):c.2242G>T (p.Asp748Tyr) http://identifiers.org/clinvar/90942 ^@ NM_000251.2(MSH2):c.2245G>A (p.Glu749Lys) http://identifiers.org/clinvar/90943 ^@ NM_000251.2(MSH2):c.2251G>A (p.Gly751Arg) http://identifiers.org/clinvar/90944 ^@ NM_000251.2(MSH2):c.2261delC (p.Thr754Ilefs) http://identifiers.org/clinvar/90945 ^@ NM_000251.2(MSH2):c.226C>T (p.Gln76Ter) http://identifiers.org/clinvar/90946 ^@ NM_000251.2(MSH2):c.2275G>T (p.Gly759Ter) http://identifiers.org/clinvar/90947 ^@ NM_000251.2(MSH2):c.2290delT (p.Trp764Glyfs) http://identifiers.org/clinvar/90948 ^@ NM_000251.2(MSH2):c.2291G>A (p.Trp764Ter) http://identifiers.org/clinvar/90949 ^@ NM_000251.2(MSH2):c.2292G>A (p.Trp764Ter) http://identifiers.org/clinvar/90950 ^@ NM_000251.2(MSH2):c.2292G>C (p.Trp764Cys) http://identifiers.org/clinvar/90951 ^@ NM_000251.2(MSH2):c.2294delC (p.Ala765Valfs) http://identifiers.org/clinvar/90952 ^@ NM_000251.2(MSH2):c.2295delT (p.Ile766Tyrfs) http://identifiers.org/clinvar/90953 ^@ NM_000251.2(MSH2):c.229_230delAG (p.Ser77Cysfs) http://identifiers.org/clinvar/90954 ^@ NM_000251.2(MSH2):c.2305delT (p.Tyr769Thrfs) http://identifiers.org/clinvar/90955 ^@ NM_000251.2(MSH2):c.2308A>G (p.Ile770Val) http://identifiers.org/clinvar/90956 ^@ NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter) http://identifiers.org/clinvar/90957 ^@ NM_000251.2(MSH2):c.2335dupA (p.Met779Asnfs) http://identifiers.org/clinvar/90958 ^@ NM_000251.2(MSH2):c.2337G>A (p.Met779Ile) http://identifiers.org/clinvar/90959 ^@ NM_000251.2(MSH2):c.2347delC (p.His783Ilefs) http://identifiers.org/clinvar/90960 ^@ NM_000251.2(MSH2):c.2360_2361dupTT (p.Thr788Leufs) http://identifiers.org/clinvar/90961 ^@ NM_000251.2(MSH2):c.2361dupT (p.Thr788Tyrfs) http://identifiers.org/clinvar/90962 ^@ NM_000251.2(MSH2):c.2362dupA (p.Thr788Asnfs) http://identifiers.org/clinvar/90963 ^@ NM_000251.2(MSH2):c.2388delT (p.Val797Leufs) http://identifiers.org/clinvar/90964 ^@ NM_000251.2(MSH2):c.23C>T (p.Thr8Met) http://identifiers.org/clinvar/90965 ^@ NM_000251.2(MSH2):c.2400A>G (p.Leu800=) http://identifiers.org/clinvar/90966 ^@ NM_000251.2(MSH2):c.2408_2409delCA (p.Thr803Serfs) http://identifiers.org/clinvar/90967 ^@ NM_000251.2(MSH2):c.2418dupC (p.Thr807Hisfs) http://identifiers.org/clinvar/90968 ^@ NM_000251.2(MSH2):c.2420C>G (p.Thr807Ser) http://identifiers.org/clinvar/90969 ^@ NM_000251.2(MSH2):c.2422G>T (p.Glu808Ter) http://identifiers.org/clinvar/90970 ^@ NM_000251.2(MSH2):c.2427dupG (p.Thr810Aspfs) http://identifiers.org/clinvar/90971 ^@ NM_000251.2(MSH2):c.2432T>G (p.Leu811Ter) http://identifiers.org/clinvar/90972 ^@ NM_000251.2(MSH2):c.2437A>G (p.Met813Val) http://identifiers.org/clinvar/90973 ^@ NM_000251.2(MSH2):c.243_273del31insCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Glu425delinsTer) http://identifiers.org/clinvar/90974 ^@ NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) http://identifiers.org/clinvar/90975 ^@ NM_000251.2(MSH2):c.244A>T (p.Lys82Ter) http://identifiers.org/clinvar/90976 ^@ NM_000251.2(MSH2):c.2458+1G>A http://identifiers.org/clinvar/90977 ^@ NM_000251.2(MSH2):c.2459-12A>G http://identifiers.org/clinvar/90978 ^@ NM_000251.2(MSH2):c.2459-?_*(272_?)del http://identifiers.org/clinvar/90979 ^@ NM_000251.2(MSH2):c.2459-?_2634+?del http://identifiers.org/clinvar/90980 ^@ NM_000251.2(MSH2):c.2459-?_2634+?dup176 http://identifiers.org/clinvar/90981 ^@ NM_000251.2(MSH2):c.2466_2467delTG (p.Cys822Terfs) http://identifiers.org/clinvar/90982 ^@ NM_000251.2(MSH2):c.2470C>G (p.Gln824Glu) http://identifiers.org/clinvar/90983 ^@ NM_000251.2(MSH2):c.2470C>T (p.Gln824Ter) http://identifiers.org/clinvar/90984 ^@ NM_000251.2(MSH2):c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs) http://identifiers.org/clinvar/90985 ^@ NM_000251.2(MSH2):c.2485delC (p.His829Metfs) http://identifiers.org/clinvar/90986 ^@ NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) http://identifiers.org/clinvar/90987 ^@ NM_000251.2(MSH2):c.2502_2508delTAATTTC (p.Asn835Leufs) http://identifiers.org/clinvar/90988 ^@ NM_000251.2(MSH2):c.2503A>C (p.Asn835His) http://identifiers.org/clinvar/90989 ^@ NM_000251.2(MSH2):c.2507delT (p.Phe836Serfs) http://identifiers.org/clinvar/90990 ^@ NM_000251.2(MSH2):c.2516A>G (p.His839Arg) http://identifiers.org/clinvar/90991 ^@ NM_000251.2(MSH2):c.2517T>A (p.His839Gln) http://identifiers.org/clinvar/90992 ^@ NM_000251.2(MSH2):c.2521delA (p.Ile841Terfs) http://identifiers.org/clinvar/90993 ^@ NM_000251.2(MSH2):c.2525_2526delAG (p.Glu842Valfs) http://identifiers.org/clinvar/90994 ^@ NM_000251.2(MSH2):c.2529_2530delTG (p.Ala844Terfs) http://identifiers.org/clinvar/90995 ^@ NM_000251.2(MSH2):c.2533A>G (p.Lys845Glu) http://identifiers.org/clinvar/90996 ^@ NM_000251.2(MSH2):c.2536C>T (p.Gln846Ter) http://identifiers.org/clinvar/90997 ^@ NM_000251.2(MSH2):c.2545delC (p.Leu849Trpfs) http://identifiers.org/clinvar/90998 ^@ NM_000251.2(MSH2):c.2551C>A (p.Leu851Ile) http://identifiers.org/clinvar/90999 ^@ NM_000251.2(MSH2):c.2558A>C (p.Glu853Ala) http://identifiers.org/clinvar/91000 ^@ NM_000251.2(MSH2):c.2558A>G (p.Glu853Gly) http://identifiers.org/clinvar/91001 ^@ NM_000251.2(MSH2):c.255_256delTG (p.Phe85Leufs) http://identifiers.org/clinvar/91002 ^@ NM_000251.2(MSH2):c.255dupT (p.Glu86Terfs) http://identifiers.org/clinvar/91003 ^@ NM_000251.2(MSH2):c.2567A>G (p.Tyr856Cys) http://identifiers.org/clinvar/91004 ^@ NM_000251.2(MSH2):c.2575G>T (p.Glu859Ter) http://identifiers.org/clinvar/91005 ^@ NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) http://identifiers.org/clinvar/91006 ^@ NM_000251.2(MSH2):c.2579C>T (p.Ser860Leu) http://identifiers.org/clinvar/91007 ^@ NM_000251.2(MSH2):c.2581C>T (p.Gln861Ter) http://identifiers.org/clinvar/91008 ^@ NM_000251.2(MSH2):c.2583A>G (p.Gln861=) http://identifiers.org/clinvar/91009 ^@ NM_000251.2(MSH2):c.2593_2597delATCAT (p.Ile865Glyfs) http://identifiers.org/clinvar/91010 ^@ NM_000251.2(MSH2):c.2602C>G (p.Pro868Ala) http://identifiers.org/clinvar/91011 ^@ NM_000251.2(MSH2):c.2609C>G (p.Ala870Gly) http://identifiers.org/clinvar/91012 ^@ NM_000251.2(MSH2):c.2617T>G (p.Cys873Gly) http://identifiers.org/clinvar/91013 ^@ NM_000251.2(MSH2):c.2620_2621ins115 (p.?) http://identifiers.org/clinvar/91014 ^@ NM_000251.2(MSH2):c.2622T>A (p.Tyr874Ter) http://identifiers.org/clinvar/91015 ^@ NM_000251.2(MSH2):c.2633_2634delAG (p.Glu878Alafs) http://identifiers.org/clinvar/91016 ^@ NM_000251.2(MSH2):c.2634+1G>A http://identifiers.org/clinvar/91017 ^@ NM_000251.2(MSH2):c.2634+1G>T http://identifiers.org/clinvar/91018 ^@ NM_000251.2(MSH2):c.2634+30delT http://identifiers.org/clinvar/91019 ^@ NM_000251.2(MSH2):c.2634+5G>C http://identifiers.org/clinvar/91020 ^@ NM_000251.2(MSH2):c.2634+5G>T http://identifiers.org/clinvar/91021 ^@ NM_000251.2(MSH2):c.2634G>A (p.Glu878=) http://identifiers.org/clinvar/91022 ^@ NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) http://identifiers.org/clinvar/91023 ^@ NM_000251.2(MSH2):c.2635-1G>T http://identifiers.org/clinvar/91024 ^@ NM_000251.2(MSH2):c.2635-214T>C http://identifiers.org/clinvar/91025 ^@ NM_000251.2(MSH2):c.2635-3C>G http://identifiers.org/clinvar/91026 ^@ NM_000251.2(MSH2):c.2635-5_2635-3inv http://identifiers.org/clinvar/91027 ^@ NM_000251.2(MSH2):c.2635-?_*(272_?)del http://identifiers.org/clinvar/91028 ^@ NM_000251.2(MSH2):c.2635C>T (p.Gln879Ter) http://identifiers.org/clinvar/91029 ^@ NM_000251.2(MSH2):c.263_264delTT (p.Phe88Cysfs) http://identifiers.org/clinvar/91030 ^@ NM_000251.2(MSH2):c.2647delA (p.Ile883Leufs) http://identifiers.org/clinvar/91031 ^@ NM_000251.2(MSH2):c.2647dupA (p.Ile883Asnfs) http://identifiers.org/clinvar/91032 ^@ NM_000251.2(MSH2):c.2651T>G (p.Ile884Ser) http://identifiers.org/clinvar/91033 ^@ NM_000251.2(MSH2):c.2653C>T (p.Gln885Ter) http://identifiers.org/clinvar/91034 ^@ NM_000251.2(MSH2):c.2657A>G (p.Glu886Gly) http://identifiers.org/clinvar/91035 ^@ NM_000251.2(MSH2):c.2662delC (p.Leu888Cysfs) http://identifiers.org/clinvar/91037 ^@ NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) http://identifiers.org/clinvar/91038 ^@ NM_000251.2(MSH2):c.2714C>T (p.Thr905Ile) http://identifiers.org/clinvar/91039 ^@ NM_000251.2(MSH2):c.2732T>G (p.Leu911Arg) http://identifiers.org/clinvar/91040 ^@ NM_000251.2(MSH2):c.2740G>T (p.Glu914Ter) http://identifiers.org/clinvar/91041 ^@ NM_000251.2(MSH2):c.274C>G (p.Leu92Val) http://identifiers.org/clinvar/91042 ^@ NM_000251.2(MSH2):c.2766T>C (p.Phe922=) http://identifiers.org/clinvar/91043 ^@ NM_000251.2(MSH2):c.2768T>A (p.Val923Glu) http://identifiers.org/clinvar/91044 ^@ NM_000251.2(MSH2):c.277C>T (p.Leu93Phe) http://identifiers.org/clinvar/91045 ^@ NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) http://identifiers.org/clinvar/91046 ^@ NM_000251.2(MSH2):c.278_279delTT (p.Leu93Profs) http://identifiers.org/clinvar/91047 ^@ NM_000251.2(MSH2):c.2790A>G (p.Ile930Met) http://identifiers.org/clinvar/91048 ^@ NM_000251.2(MSH2):c.2792A>C (p.Lys931Thr) http://identifiers.org/clinvar/91049 ^@ NM_000251.2(MSH2):c.2797dupA (p.Thr933Asnfs) http://identifiers.org/clinvar/91050 ^@ NM_000251.2(MSH2):c.279_281delTCT (p.Leu94del) http://identifiers.org/clinvar/91051 ^@ NM_000251.2(MSH2):c.2802G>A (p.Thr934=) http://identifiers.org/clinvar/91052 ^@ NM_000251.2(MSH2):c.2802G>C (p.Thr934=) http://identifiers.org/clinvar/91053 ^@ NM_000251.2(MSH2):c.287G>A (p.Arg96His) http://identifiers.org/clinvar/91054 ^@ NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) http://identifiers.org/clinvar/91055 ^@ NM_000251.2(MSH2):c.28C>T (p.Gln10Ter) http://identifiers.org/clinvar/91056 ^@ NM_000251.2(MSH2):c.293A>G (p.Tyr98Cys) http://identifiers.org/clinvar/91057 ^@ NM_000251.2(MSH2):c.295A>C (p.Arg99=) http://identifiers.org/clinvar/91058 ^@ NM_000251.2(MSH2):c.29dupA (p.Leu11Valfs) http://identifiers.org/clinvar/91059 ^@ NM_000251.2(MSH2):c.301G>T (p.Glu101Ter) http://identifiers.org/clinvar/91060 ^@ NM_000251.2(MSH2):c.301_306delGAAGTT (p.Glu101_Val102del) http://identifiers.org/clinvar/91061 ^@ NM_000251.2(MSH2):c.308A>G (p.Tyr103Cys) http://identifiers.org/clinvar/91062 ^@ NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) http://identifiers.org/clinvar/91063 ^@ NM_000251.2(MSH2):c.319G>C (p.Ala107Pro) http://identifiers.org/clinvar/91064 ^@ NM_000251.2(MSH2):c.327T>C (p.Asn109=) http://identifiers.org/clinvar/91065 ^@ NM_000251.2(MSH2):c.329A>G (p.Lys110Arg) http://identifiers.org/clinvar/91066 ^@ NM_000251.2(MSH2):c.344delA (p.Asn115Metfs) http://identifiers.org/clinvar/91067 ^@ NM_000251.2(MSH2):c.347_350delATTG (p.Asp116Glyfs) http://identifiers.org/clinvar/91068 ^@ NM_000251.2(MSH2):c.34dupG (p.Glu12Glyfs) http://identifiers.org/clinvar/91069 ^@ NM_000251.2(MSH2):c.352dupT (p.Tyr118Leufs) http://identifiers.org/clinvar/91070 ^@ NM_000251.2(MSH2):c.363T>G (p.Tyr121Ter) http://identifiers.org/clinvar/91071 ^@ NM_000251.2(MSH2):c.366+1G>T http://identifiers.org/clinvar/91072 ^@ NM_000251.2(MSH2):c.366+43G>A http://identifiers.org/clinvar/91073 ^@ NM_000251.2(MSH2):c.366+53A>C http://identifiers.org/clinvar/91074 ^@ NM_000251.2(MSH2):c.367-13del http://identifiers.org/clinvar/91075 ^@ NM_000251.2(MSH2):c.367-1G>A http://identifiers.org/clinvar/91076 ^@ NM_000251.1(MSH2):c.367-371_646-513del http://identifiers.org/clinvar/91077 ^@ NM_000251.1(MSH2):c.367-452_646-722del http://identifiers.org/clinvar/91078 ^@ NM_000251.2(MSH2):c.367-480_645+644del http://identifiers.org/clinvar/91079 ^@ NM_000251.1(MSH2):c.367-681_646-956del http://identifiers.org/clinvar/91080 ^@ NM_000251.2(MSH2):c.367-?_1076+?del http://identifiers.org/clinvar/91081 ^@ NM_000251.2(MSH2):c.367-?_1276+?del http://identifiers.org/clinvar/91082 ^@ NM_000251.2(MSH2):c.367-?_1386+?del http://identifiers.org/clinvar/91083 ^@ NM_000251.2(MSH2):c.367-?_1759+?del http://identifiers.org/clinvar/91084 ^@ NM_000251.2(MSH2):c.367-?_645+?del http://identifiers.org/clinvar/91085 ^@ NM_000251.2(MSH2):c.367-?_942+?del http://identifiers.org/clinvar/91086 ^@ NM_000251.2(MSH2):c.368delC (p.Ala123Valfs) http://identifiers.org/clinvar/91087 ^@ NM_000251.2(MSH2):c.380A>T (p.Asn127Ile) http://identifiers.org/clinvar/91088 ^@ NM_000251.2(MSH2):c.380_381delAT (p.Asn127Thrfs) http://identifiers.org/clinvar/91089 ^@ NM_000251.2(MSH2):c.387_388delTC (p.Gln130Valfs) http://identifiers.org/clinvar/91090 ^@ NM_000251.2(MSH2):c.388_389delCA (p.Gln130Valfs) http://identifiers.org/clinvar/91091 ^@ NM_000251.2(MSH2):c.38G>T (p.Ser13Ile) http://identifiers.org/clinvar/91092 ^@ NM_000251.2(MSH2):c.399C>T (p.Asp133=) http://identifiers.org/clinvar/91093 ^@ NM_000251.2(MSH2):c.399delC (p.Asp133Glufs) http://identifiers.org/clinvar/91094 ^@ NM_000251.2(MSH2):c.408delT (p.Phe136Leufs) http://identifiers.org/clinvar/91095 ^@ NM_000251.2(MSH2):c.416delA (p.Asn139Metfs) http://identifiers.org/clinvar/91096 ^@ NM_000251.2(MSH2):c.425C>G (p.Ser142Ter) http://identifiers.org/clinvar/91097 ^@ NM_000251.2(MSH2):c.435T>G (p.Ile145Met) http://identifiers.org/clinvar/91098 ^@ NM_000251.2(MSH2):c.438T>C (p.Gly146=) http://identifiers.org/clinvar/91099 ^@ NM_000251.2(MSH2):c.446G>A (p.Gly149Asp) http://identifiers.org/clinvar/91100 ^@ NM_000251.2(MSH2):c.459C>T (p.Ser153=) http://identifiers.org/clinvar/91101 ^@ NM_000251.2(MSH2):c.471C>A (p.Gly157=) http://identifiers.org/clinvar/91102 ^@ NM_000251.2(MSH2):c.472C>T (p.Gln158Ter) http://identifiers.org/clinvar/91103 ^@ NM_000251.2(MSH2):c.478C>T (p.Gln160Ter) http://identifiers.org/clinvar/91104 ^@ NM_000251.2(MSH2):c.482T>A (p.Val161Asp) http://identifiers.org/clinvar/91105 ^@ NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) http://identifiers.org/clinvar/91106 ^@ NM_000251.2(MSH2):c.485G>C (p.Gly162Ala) http://identifiers.org/clinvar/91107 ^@ NM_000251.2(MSH2):c.488T>A (p.Val163Asp) http://identifiers.org/clinvar/91108 ^@ NM_000251.2(MSH2):c.488T>G (p.Val163Gly) http://identifiers.org/clinvar/91109 ^@ NM_000251.2(MSH2):c.490G>A (p.Gly164Arg) http://identifiers.org/clinvar/91110 ^@ NM_000251.2(MSH2):c.490G>T (p.Gly164Trp) http://identifiers.org/clinvar/91111 ^@ NM_000251.2(MSH2):c.493T>G (p.Tyr165Asp) http://identifiers.org/clinvar/91112 ^@ NM_000251.2(MSH2):c.499G>C (p.Asp167His) http://identifiers.org/clinvar/91113 ^@ NM_000251.2(MSH2):c.49G>T (p.Val17Phe) http://identifiers.org/clinvar/91114 ^@ NM_000251.2(MSH2):c.4_21dup18 (p.Glu7_Thr8insAlaValGlnProLysGlu) http://identifiers.org/clinvar/91115 ^@ NM_000251.2(MSH2):c.505A>G (p.Ile169Val) http://identifiers.org/clinvar/91116 ^@ NM_000251.2(MSH2):c.506_509delTACA (p.Ile169Argfs) http://identifiers.org/clinvar/91117 ^@ NM_000251.2(MSH2):c.508C>T (p.Gln170Ter) http://identifiers.org/clinvar/91118 ^@ NM_000251.2(MSH2):c.511_583dup73 (p.Gly195Glufs) http://identifiers.org/clinvar/91119 ^@ NM_000251.2(MSH2):c.512G>A (p.Arg171Lys) http://identifiers.org/clinvar/91120 ^@ NM_000251.2(MSH2):c.513delG (p.Lys172Asnfs) http://identifiers.org/clinvar/91121 ^@ NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) http://identifiers.org/clinvar/91122 ^@ NM_000251.2(MSH2):c.518T>G (p.Leu173Arg) http://identifiers.org/clinvar/91123 ^@ NM_000251.2(MSH2):c.518delT (p.Leu173Glnfs) http://identifiers.org/clinvar/91124 ^@ NM_000251.2(MSH2):c.523_564del42 (p.Leu175_Glu188del) http://identifiers.org/clinvar/91125 ^@ NM_000251.2(MSH2):c.524T>C (p.Leu175Pro) http://identifiers.org/clinvar/91126 ^@ NM_000251.2(MSH2):c.528_529delTG (p.Cys176Terfs) http://identifiers.org/clinvar/91127 ^@ NM_000251.2(MSH2):c.529G>A (p.Glu177Lys) http://identifiers.org/clinvar/91128 ^@ NM_000251.2(MSH2):c.529G>T (p.Glu177Ter) http://identifiers.org/clinvar/91129 ^@ NM_000251.2(MSH2):c.530_531delAA (p.Glu177Valfs) http://identifiers.org/clinvar/91130 ^@ NM_000251.2(MSH2):c.547C>T (p.Gln183Ter) http://identifiers.org/clinvar/91131 ^@ NM_000251.2(MSH2):c.54C>G (p.Gly18=) http://identifiers.org/clinvar/91132 ^@ NM_000251.2(MSH2):c.551delT (p.Phe184Serfs) http://identifiers.org/clinvar/91133 ^@ NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) http://identifiers.org/clinvar/91134 ^@ NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) http://identifiers.org/clinvar/91135 ^@ NM_000251.2(MSH2):c.560T>G (p.Leu187Arg) http://identifiers.org/clinvar/91136 ^@ NM_000251.2(MSH2):c.561_569delTGAGGCTCT (p.Glu188_Leu190del) http://identifiers.org/clinvar/91137 ^@ NM_000251.2(MSH2):c.565G>T (p.Ala189Ser) http://identifiers.org/clinvar/91138 ^@ NM_000251.2(MSH2):c.569_570delTCinsCT (p.Leu190Pro) http://identifiers.org/clinvar/91139 ^@ NM_000251.2(MSH2):c.571_573delCTC (p.Leu191del) http://identifiers.org/clinvar/91140 ^@ NM_000251.2(MSH2):c.573C>T (p.Leu191=) http://identifiers.org/clinvar/91141 ^@ NM_000251.2(MSH2):c.577C>T (p.Gln193Ter) http://identifiers.org/clinvar/91142 ^@ NM_000251.2(MSH2):c.587delC (p.Pro196Glnfs) http://identifiers.org/clinvar/91143 ^@ NM_000251.2(MSH2):c.592G>A (p.Glu198Lys) http://identifiers.org/clinvar/91144 ^@ NM_000251.2(MSH2):c.592dupG (p.Glu198Glyfs) http://identifiers.org/clinvar/91145 ^@ NM_000251.2(MSH2):c.593A>G (p.Glu198Gly) http://identifiers.org/clinvar/91146 ^@ NM_000251.2(MSH2):c.595T>C (p.Cys199Arg) http://identifiers.org/clinvar/91147 ^@ NM_000251.2(MSH2):c.596G>A (p.Cys199Tyr) http://identifiers.org/clinvar/91148 ^@ NM_000251.2(MSH2):c.599T>A (p.Val200Asp) http://identifiers.org/clinvar/91149 ^@ NM_000251.2(MSH2):c.610G>T (p.Gly204Ter) http://identifiers.org/clinvar/91150 ^@ NM_000251.2(MSH2):c.613G>T (p.Glu205Ter) http://identifiers.org/clinvar/91151 ^@ NM_000251.2(MSH2):c.616dupA (p.Thr206Asnfs) http://identifiers.org/clinvar/91152 ^@ NM_000251.2(MSH2):c.638_639delTG (p.Leu213Glnfs) http://identifiers.org/clinvar/91153 ^@ NM_000251.2(MSH2):c.642_645delACAG (p.Gln215Terfs) http://identifiers.org/clinvar/91154 ^@ NM_000251.2(MSH2):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/91155 ^@ NM_000251.2(MSH2):c.645+1G>A http://identifiers.org/clinvar/91156 ^@ NM_000251.2(MSH2):c.645+1G>T http://identifiers.org/clinvar/91157 ^@ NM_000251.2(MSH2):c.645+3A>G http://identifiers.org/clinvar/91158 ^@ NM_000251.1(MSH2):c.645+539_1077-3451del http://identifiers.org/clinvar/91159 ^@ NM_000251.1(MSH2):c.645+791_1076+4894del http://identifiers.org/clinvar/91160 ^@ NM_000251.1(MSH2):c.645+967_1076+5075del http://identifiers.org/clinvar/91161 ^@ NM_000251.2(MSH2):c.646-2A>G http://identifiers.org/clinvar/91162 ^@ NM_000251.2(MSH2):c.646-3T>G http://identifiers.org/clinvar/91163 ^@ NM_000251.2(MSH2):c.646-3_654del http://identifiers.org/clinvar/91164 ^@ NM_000251.2(MSH2):c.646-?_*(272_?)del http://identifiers.org/clinvar/91165 ^@ NM_000251.2(MSH2):c.646-?_1076+?del http://identifiers.org/clinvar/91166 ^@ NM_000251.2(MSH2):c.646-?_1076+?dup431 http://identifiers.org/clinvar/91167 ^@ NM_000251.2(MSH2):c.646-?_1276+?del http://identifiers.org/clinvar/91168 ^@ NM_000251.2(MSH2):c.646-?_1386+?del http://identifiers.org/clinvar/91169 ^@ NM_000251.2(MSH2):c.646-?_792+?del http://identifiers.org/clinvar/91170 ^@ NM_000251.2(MSH2):c.646-?_942+?del http://identifiers.org/clinvar/91171 ^@ NM_000251.2(MSH2):c.646A>G (p.Ile216Val) http://identifiers.org/clinvar/91172 ^@ NM_000251.2(MSH2):c.650_654delTTCAA (p.Ile217Lysfs) http://identifiers.org/clinvar/91173 ^@ NM_000251.2(MSH2):c.652C>T (p.Gln218Ter) http://identifiers.org/clinvar/91174 ^@ NM_000251.2(MSH2):c.672C>G (p.Ile224Met) http://identifiers.org/clinvar/91175 ^@ NM_000251.2(MSH2):c.675_679delAGAAAinsTAAT (p.Glu226Asnfs) http://identifiers.org/clinvar/91176 ^@ NM_000251.2(MSH2):c.685A>T (p.Lys229Ter) http://identifiers.org/clinvar/91177 ^@ NM_000251.2(MSH2):c.687delA (p.Ala230Leufs) http://identifiers.org/clinvar/91178 ^@ NM_000251.2(MSH2):c.687dupA (p.Ala230Serfs) http://identifiers.org/clinvar/91179 ^@ NM_000251.2(MSH2):c.691delG (p.Asp231Thrfs) http://identifiers.org/clinvar/91180 ^@ NM_000251.2(MSH2):c.696_697delTT (p.Ser233Hisfs) http://identifiers.org/clinvar/91181 ^@ NM_000251.2(MSH2):c.6G>T (p.Ala2=) http://identifiers.org/clinvar/91182 ^@ NM_000251.2(MSH2):c.704_705delAA (p.Lys235Argfs) http://identifiers.org/clinvar/91183 ^@ NM_000251.2(MSH2):c.705delA (p.Asp236Thrfs) http://identifiers.org/clinvar/91184 ^@ NM_000251.2(MSH2):c.711_714delTTAT (p.Tyr238Argfs) http://identifiers.org/clinvar/91185 ^@ NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) http://identifiers.org/clinvar/91186 ^@ NM_000251.2(MSH2):c.717_721delGGACCinsTTA (p.Gln239Hisfs) http://identifiers.org/clinvar/91187 ^@ NM_000251.2(MSH2):c.71dupA (p.Met26Hisfs) http://identifiers.org/clinvar/91188 ^@ NM_000251.2(MSH2):c.725dupA (p.Asn242Lysfs) http://identifiers.org/clinvar/91189 ^@ NM_000251.2(MSH2):c.728G>A (p.Arg243Gln) http://identifiers.org/clinvar/91190 ^@ NM_000251.2(MSH2):c.735dupG (p.Lys246Glufs) http://identifiers.org/clinvar/91191 ^@ NM_000251.2(MSH2):c.736A>C (p.Lys246Gln) http://identifiers.org/clinvar/91192 ^@ NM_000251.2(MSH2):c.736A>T (p.Lys246Ter) http://identifiers.org/clinvar/91193 ^@ NM_000251.2(MSH2):c.73_74insC (p.Gly25Alafs) http://identifiers.org/clinvar/91194 ^@ NM_000251.2(MSH2):c.742A>G (p.Lys248Glu) http://identifiers.org/clinvar/91195 ^@ NM_000251.2(MSH2):c.746delA (p.Lys249Argfs) http://identifiers.org/clinvar/91196 ^@ NM_000251.2(MSH2):c.754C>T (p.Gln252Ter) http://identifiers.org/clinvar/91197 ^@ NM_000251.2(MSH2):c.759_762delGAAT (p.Met253Ilefs) http://identifiers.org/clinvar/91198 ^@ NM_000251.2(MSH2):c.759delG (p.Met253Ilefs) http://identifiers.org/clinvar/91199 ^@ NM_000251.2(MSH2):c.761delA (p.Asn254Ilefs) http://identifiers.org/clinvar/91200 ^@ NM_000251.2(MSH2):c.762T>C (p.Asn254=) http://identifiers.org/clinvar/91201 ^@ NM_000251.2(MSH2):c.763_766delAGTGinsTT (p.Ser255Phefs) http://identifiers.org/clinvar/91202 ^@ NM_000251.2(MSH2):c.767_768dupCT (p.Val257Leufs) http://identifiers.org/clinvar/91203 ^@ NM_000251.2(MSH2):c.782T>C (p.Met261Thr) http://identifiers.org/clinvar/91204 ^@ NM_000251.2(MSH2):c.788_789delAT (p.Asn263Thrfs) http://identifiers.org/clinvar/91205 ^@ NM_000251.2(MSH2):c.792+1G>A http://identifiers.org/clinvar/91206 ^@ NM_000251.2(MSH2):c.792+5A>G http://identifiers.org/clinvar/91207 ^@ NM_000251.1(MSH2):c.792+8_943-450del http://identifiers.org/clinvar/91208 ^@ NM_000251.2(MSH2):c.792G>C (p.Gln264His) http://identifiers.org/clinvar/91209 ^@ NM_000251.2(MSH2):c.793-29A>T http://identifiers.org/clinvar/91210 ^@ NM_000251.2(MSH2):c.793-2A>C http://identifiers.org/clinvar/91211 ^@ NM_000251.2(MSH2):c.793-30A>G http://identifiers.org/clinvar/91212 ^@ NM_000251.2(MSH2):c.793-6_942+450del http://identifiers.org/clinvar/91213 ^@ NM_000251.2(MSH2):c.793-?_1076+?del http://identifiers.org/clinvar/91214 ^@ NM_000251.2(MSH2):c.793-?_1076+?dup284 http://identifiers.org/clinvar/91215 ^@ NM_000251.2(MSH2):c.793-?_1276+?del484 http://identifiers.org/clinvar/91216 ^@ NM_000251.2(MSH2):c.793-?_1386+?deldel594 http://identifiers.org/clinvar/91217 ^@ NM_000251.2(MSH2):c.793-?_942+?del http://identifiers.org/clinvar/91218 ^@ NM_000251.2(MSH2):c.795T>C (p.Val265=) http://identifiers.org/clinvar/91219 ^@ NM_000251.2(MSH2):c.795delT (p.Ala266Glnfs) http://identifiers.org/clinvar/91220 ^@ NM_000251.2(MSH2):c.806C>T (p.Ser269Leu) http://identifiers.org/clinvar/91221 ^@ NM_000251.2(MSH2):c.810_811delGT (p.Ser271Cysfs) http://identifiers.org/clinvar/91222 ^@ NM_000251.2(MSH2):c.811_814delTCTG (p.Ser271Argfs) http://identifiers.org/clinvar/91223 ^@ NM_000251.2(MSH2):c.814_815delGCinsAT (p.Ala272Met) http://identifiers.org/clinvar/91224 ^@ NM_000251.2(MSH2):c.817_818delGTinsAA (p.Val273Lys) http://identifiers.org/clinvar/91225 ^@ NM_000251.2(MSH2):c.82G>T (p.Glu28Ter) http://identifiers.org/clinvar/91226 ^@ NM_000251.2(MSH2):c.82delG (p.Glu28Argfs) http://identifiers.org/clinvar/91227 ^@ NM_000251.2(MSH2):c.836delT (p.Leu279Profs) http://identifiers.org/clinvar/91228 ^@ NM_000251.2(MSH2):c.839dupT (p.Leu280Phefs) http://identifiers.org/clinvar/91229 ^@ NM_000251.2(MSH2):c.842C>A (p.Ser281Ter) http://identifiers.org/clinvar/91230 ^@ NM_000251.2(MSH2):c.847G>T (p.Asp283Tyr) http://identifiers.org/clinvar/91231 ^@ NM_000251.2(MSH2):c.854delA (p.Asn285Thrfs) http://identifiers.org/clinvar/91232 ^@ NM_000251.2(MSH2):c.859G>T (p.Gly287Ter) http://identifiers.org/clinvar/91233 ^@ NM_000251.2(MSH2):c.862C>T (p.Gln288Ter) http://identifiers.org/clinvar/91234 ^@ NM_000251.2(MSH2):c.863delA (p.Gln288Argfs) http://identifiers.org/clinvar/91235 ^@ NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) http://identifiers.org/clinvar/91236 ^@ NM_000251.2(MSH2):c.873_876delGACT (p.Thr292Leufs) http://identifiers.org/clinvar/91237 ^@ NM_000251.2(MSH2):c.881_882delTT (p.Phe294Terfs) http://identifiers.org/clinvar/91238 ^@ NM_000251.2(MSH2):c.888delC (p.Phe296Leufs) http://identifiers.org/clinvar/91239 ^@ NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) http://identifiers.org/clinvar/91240 ^@ NM_000251.2(MSH2):c.898_899dupAT (p.Met300Ilefs) http://identifiers.org/clinvar/91241 ^@ NM_000251.2(MSH2):c.901A>T (p.Lys301Ter) http://identifiers.org/clinvar/91242 ^@ NM_000251.2(MSH2):c.905T>A (p.Leu302Ter) http://identifiers.org/clinvar/91243 ^@ NM_000251.2(MSH2):c.913G>A (p.Ala305Thr) http://identifiers.org/clinvar/91244 ^@ NM_000251.2(MSH2):c.915_922dupAGCAGTCA (p.Arg308Lysfs) http://identifiers.org/clinvar/91245 ^@ NM_000251.2(MSH2):c.929T>C (p.Leu310Pro) http://identifiers.org/clinvar/91246 ^@ NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) http://identifiers.org/clinvar/91247 ^@ NM_000251.2(MSH2):c.942+1G>T http://identifiers.org/clinvar/91248 ^@ NM_000251.2(MSH2):c.942+20_942+29del http://identifiers.org/clinvar/91249 ^@ NM_000251.2(MSH2):c.942+2T>G http://identifiers.org/clinvar/91250 ^@ NM_000251.2(MSH2):c.942+2del http://identifiers.org/clinvar/91251 ^@ NM_000251.2(MSH2):c.942G>A (p.Gln314=) http://identifiers.org/clinvar/91252 ^@ NM_000251.2(MSH2):c.943-1G>A http://identifiers.org/clinvar/91253 ^@ NM_000251.2(MSH2):c.943-1G>C http://identifiers.org/clinvar/91254 ^@ NM_000251.2(MSH2):c.943-2A>G http://identifiers.org/clinvar/91255 ^@ NM_000251.1(MSH2):c.943-926_1077-1449del http://identifiers.org/clinvar/91256 ^@ NM_000251.2(MSH2):c.943-?_1076+?del http://identifiers.org/clinvar/91257 ^@ NM_000251.2(MSH2):c.94_103delACCACAGTGC (p.Thr32Alafs) http://identifiers.org/clinvar/91258 ^@ NM_000251.2(MSH2):c.958dupA (p.Thr320Asnfs) http://identifiers.org/clinvar/91259 ^@ NM_000251.2(MSH2):c.968C>A (p.Ser323Tyr) http://identifiers.org/clinvar/91260 ^@ NM_000251.2(MSH2):c.968C>G (p.Ser323Cys) http://identifiers.org/clinvar/91261 ^@ NM_000251.2(MSH2):c.970C>T (p.Gln324Ter) http://identifiers.org/clinvar/91262 ^@ NM_000251.2(MSH2):c.970_971delCA (p.Gln324Valfs) http://identifiers.org/clinvar/91263 ^@ NM_000251.2(MSH2):c.970_971ins4 http://identifiers.org/clinvar/91264 ^@ NM_000251.2(MSH2):c.972G>A (p.Gln324=) http://identifiers.org/clinvar/91265 ^@ NM_000251.1(MSH2):c.972_973insNM_002133.2:c.737-1292_737-1109 http://identifiers.org/clinvar/91266 ^@ NM_000251.2(MSH2):c.973dupT (p.Ser325Phefs) http://identifiers.org/clinvar/91267 ^@ NM_000251.2(MSH2):c.97A>C (p.Thr33Pro) http://identifiers.org/clinvar/91268 ^@ NM_000251.2(MSH2):c.97A>G (p.Thr33Ala) http://identifiers.org/clinvar/91269 ^@ NM_000251.2(MSH2):c.984C>T (p.Ala328=) http://identifiers.org/clinvar/91270 ^@ NM_000251.2(MSH2):c.989T>C (p.Leu330Pro) http://identifiers.org/clinvar/91271 ^@ NM_000251.2(MSH2):c.991A>G (p.Asn331Asp) http://identifiers.org/clinvar/91272 ^@ NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) http://identifiers.org/clinvar/91273 ^@ NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) http://identifiers.org/clinvar/91274 ^@ NM_000535.5(PMS2):c.(?_-87)_(*160_?)del http://identifiers.org/clinvar/91275 ^@ NM_000535.6(PMS2):c.(?_-87)_1144+?del http://identifiers.org/clinvar/91276 ^@ NM_000535.6(PMS2):c.(?_-87)_23+?del http://identifiers.org/clinvar/91277 ^@ NM_000535.6(PMS2):c.*17G>C http://identifiers.org/clinvar/91278 ^@ NM_000535.6(PMS2):c.*92dupA http://identifiers.org/clinvar/91279 ^@ NM_000535.6(PMS2):c.-101A>G http://identifiers.org/clinvar/91280 ^@ NM_000535.6(PMS2):c.-154C>G http://identifiers.org/clinvar/91281 ^@ NM_000535.6(PMS2):c.-195T>C http://identifiers.org/clinvar/91282 ^@ NM_000535.6(PMS2):c.-2146C>A http://identifiers.org/clinvar/91283 ^@ NM_000535.6(PMS2):c.-2559T>A http://identifiers.org/clinvar/91284 ^@ NM_000535.6(PMS2):c.-323G>T http://identifiers.org/clinvar/91285 ^@ NM_000535.6(PMS2):c.-340G>T http://identifiers.org/clinvar/91286 ^@ NM_000535.6(PMS2):c.-93G>A http://identifiers.org/clinvar/91287 ^@ NM_000535.6(PMS2):c.-963A>G http://identifiers.org/clinvar/91289 ^@ NM_000535.6(PMS2):c.1076dupT (p.Leu359Phefs) http://identifiers.org/clinvar/91290 ^@ NM_000535.6(PMS2):c.1112_1113delATinsTTTA (p.Asn371Ilefs) http://identifiers.org/clinvar/91291 ^@ NM_000535.6(PMS2):c.1144+2T>A http://identifiers.org/clinvar/91292 ^@ NM_000535.5(PMS2):c.1145-1350_*20545del http://identifiers.org/clinvar/91293 ^@ NM_000535.6(PMS2):c.1145-5C>T http://identifiers.org/clinvar/91294 ^@ NM_000535.6(PMS2):c.1145-?_2174+?del http://identifiers.org/clinvar/91295 ^@ NM_000535.6(PMS2):c.1145-?_2445+?del http://identifiers.org/clinvar/91296 ^@ NM_000535.6(PMS2):c.1169_1170ins20 (p.?) http://identifiers.org/clinvar/91298 ^@ NM_000535.6(PMS2):c.1237_1239delAAA (p.Lys413del) http://identifiers.org/clinvar/91299 ^@ NM_000535.6(PMS2):c.1261C>T (p.Arg421Ter) http://identifiers.org/clinvar/91300 ^@ NM_000535.6(PMS2):c.1306dupA (p.Ser436Lysfs) http://identifiers.org/clinvar/91301 ^@ NM_000535.6(PMS2):c.137G>A (p.Ser46Asn) http://identifiers.org/clinvar/91302 ^@ NM_000535.6(PMS2):c.1384A>C (p.Ile462Leu) http://identifiers.org/clinvar/91303 ^@ NM_000535.6(PMS2):c.1463C>T (p.Ala488Val) http://identifiers.org/clinvar/91304 ^@ NM_000535.6(PMS2):c.1488C>T (p.His496=) http://identifiers.org/clinvar/91305 ^@ NM_000535.6(PMS2):c.1510G>C (p.Glu504Gln) http://identifiers.org/clinvar/91306 ^@ NM_000535.6(PMS2):c.1569C>G (p.Ser523=) http://identifiers.org/clinvar/91307 ^@ NM_000535.6(PMS2):c.163+2T>C http://identifiers.org/clinvar/91308 ^@ NM_000535.6(PMS2):c.164-2A>G http://identifiers.org/clinvar/91309 ^@ NM_000535.5(PMS2):c.164-518_803+252delinsCG http://identifiers.org/clinvar/91310 ^@ NM_000535.6(PMS2):c.1730dupA (p.Arg578Alafs) http://identifiers.org/clinvar/91311 ^@ NM_000535.6(PMS2):c.1732C>T (p.Arg578Cys) http://identifiers.org/clinvar/91312 ^@ NM_000535.6(PMS2):c.1738A>T (p.Lys580Ter) http://identifiers.org/clinvar/91313 ^@ NM_000535.6(PMS2):c.1753C>A (p.Leu585Ile) http://identifiers.org/clinvar/91314 ^@ NM_000535.6(PMS2):c.1768delA (p.Ile590Phefs) http://identifiers.org/clinvar/91315 ^@ NM_000535.6(PMS2):c.180C>G (p.Asp60Glu) http://identifiers.org/clinvar/91316 ^@ NM_000535.6(PMS2):c.182delA (p.Tyr61Leufs) http://identifiers.org/clinvar/91317 ^@ NM_000535.6(PMS2):c.1831dupA (p.Ile611Asnfs) http://identifiers.org/clinvar/91318 ^@ NM_000535.6(PMS2):c.1840A>T (p.Lys614Ter) http://identifiers.org/clinvar/91319 ^@ NM_000535.6(PMS2):c.1876G>C (p.Ala626Pro) http://identifiers.org/clinvar/91320 ^@ NM_000535.6(PMS2):c.1927C>T (p.Gln643Ter) http://identifiers.org/clinvar/91321 ^@ NM_000535.6(PMS2):c.1939A>T (p.Lys647Ter) http://identifiers.org/clinvar/91322 ^@ NM_000535.6(PMS2):c.1988A>C (p.Glu663Ala) http://identifiers.org/clinvar/91323 ^@ NM_000535.6(PMS2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/91324 ^@ NM_000535.6(PMS2):c.2006+6G>A http://identifiers.org/clinvar/91325 ^@ NM_000535.6(PMS2):c.2007-117C>T http://identifiers.org/clinvar/91326 ^@ NM_000535.6(PMS2):c.2007-1G>A http://identifiers.org/clinvar/91327 ^@ NM_000535.6(PMS2):c.2007-4G>A http://identifiers.org/clinvar/91328 ^@ NM_000535.6(PMS2):c.2113G>A (p.Glu705Lys) http://identifiers.org/clinvar/91329 ^@ NM_000535.6(PMS2):c.2174+1G>A http://identifiers.org/clinvar/91330 ^@ NM_000535.6(PMS2):c.2186_2187delTC (p.Leu729Glnfs) http://identifiers.org/clinvar/91331 ^@ NM_000535.6(PMS2):c.2192_2196delTAACT (p.Leu731Cysfs) http://identifiers.org/clinvar/91332 ^@ NM_000535.6(PMS2):c.219_220dupTG (p.Gly74Valfs) http://identifiers.org/clinvar/91333 ^@ NM_000535.6(PMS2):c.2243_2246delAGAA (p.Lys748Metfs) http://identifiers.org/clinvar/91334 ^@ NM_000535.6(PMS2):c.2249G>A (p.Gly750Asp) http://identifiers.org/clinvar/91335 ^@ NM_000535.6(PMS2):c.2276-113_2445+1596del http://identifiers.org/clinvar/91336 ^@ NM_000535.6(PMS2):c.2276-91_2445+790del http://identifiers.org/clinvar/91337 ^@ NM_000535.6(PMS2):c.2340C>T (p.Pro780=) http://identifiers.org/clinvar/91338 ^@ NM_000535.6(PMS2):c.2361_2364delCTTC (p.Phe788Cysfs) http://identifiers.org/clinvar/91339 ^@ NM_000535.6(PMS2):c.2390T>G (p.Met797Arg) http://identifiers.org/clinvar/91340 ^@ NM_000535.6(PMS2):c.2395C>T (p.Arg799Trp) http://identifiers.org/clinvar/91341 ^@ NM_000535.6(PMS2):c.24-12_107delinsAAAT http://identifiers.org/clinvar/91342 ^@ NM_000535.6(PMS2):c.24-?_163+?del http://identifiers.org/clinvar/91343 ^@ NM_000535.6(PMS2):c.2444C>T (p.Ser815Leu) http://identifiers.org/clinvar/91344 ^@ NM_000535.6(PMS2):c.2446-25_2446-23del http://identifiers.org/clinvar/91345 ^@ NM_000535.6(PMS2):c.251-2A>G http://identifiers.org/clinvar/91346 ^@ NM_000535.6(PMS2):c.251-72A>G http://identifiers.org/clinvar/91347 ^@ NM_000535.6(PMS2):c.251-8T>C http://identifiers.org/clinvar/91348 ^@ NM_000535.6(PMS2):c.2528G>A (p.Cys843Tyr) http://identifiers.org/clinvar/91349 ^@ NM_000535.6(PMS2):c.288C>A (p.Ala96=) http://identifiers.org/clinvar/91350 ^@ NM_000535.6(PMS2):c.288C>T (p.Ala96=) http://identifiers.org/clinvar/91351 ^@ NM_000535.6(PMS2):c.320G>A (p.Arg107Gln) http://identifiers.org/clinvar/91352 ^@ NM_000535.6(PMS2):c.325G>A (p.Glu109Lys) http://identifiers.org/clinvar/91353 ^@ NM_000535.6(PMS2):c.354-?_*(160_?)del http://identifiers.org/clinvar/91354 ^@ NM_000535.6(PMS2):c.354-?_803+?del http://identifiers.org/clinvar/91355 ^@ NM_000535.6(PMS2):c.384G>A (p.Ser128=) http://identifiers.org/clinvar/91356 ^@ NM_000535.6(PMS2):c.538-223A>G http://identifiers.org/clinvar/91357 ^@ NM_000535.6(PMS2):c.538-478_705+456del http://identifiers.org/clinvar/91358 ^@ NM_000535.6(PMS2):c.543delT (p.Tyr181Terfs) http://identifiers.org/clinvar/91359 ^@ NM_000535.6(PMS2):c.544G>A (p.Ala182Thr) http://identifiers.org/clinvar/91360 ^@ NM_000535.6(PMS2):c.593dupT (p.Arg199Profs) http://identifiers.org/clinvar/91361 ^@ NM_000535.6(PMS2):c.614A>C (p.Gln205Pro) http://identifiers.org/clinvar/91362 ^@ NM_000535.6(PMS2):c.697C>T (p.Gln233Ter) http://identifiers.org/clinvar/91363 ^@ NM_000535.6(PMS2):c.703C>T (p.Gln235Ter) http://identifiers.org/clinvar/91364 ^@ NM_000535.6(PMS2):c.705+1G>T http://identifiers.org/clinvar/91365 ^@ NM_000535.6(PMS2):c.706-?_803+?del http://identifiers.org/clinvar/91366 ^@ NM_000535.6(PMS2):c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs) http://identifiers.org/clinvar/91367 ^@ NM_000535.6(PMS2):c.780delC (p.Asp261Metfs) http://identifiers.org/clinvar/91368 ^@ NM_000535.6(PMS2):c.787C>G (p.Leu263Val) http://identifiers.org/clinvar/91369 ^@ NM_000535.6(PMS2):c.802dupT (p.Tyr268Leufs) http://identifiers.org/clinvar/91370 ^@ NM_000535.6(PMS2):c.804-10T>G http://identifiers.org/clinvar/91371 ^@ NM_000535.6(PMS2):c.804-243G>A http://identifiers.org/clinvar/91372 ^@ NM_000535.5(PMS2):c.804-60_804-59insJN866832.1 http://identifiers.org/clinvar/91373 ^@ NM_000535.6(PMS2):c.804-?_2006+?del http://identifiers.org/clinvar/91374 ^@ NM_000535.6(PMS2):c.804-?_903+?del http://identifiers.org/clinvar/91375 ^@ NM_000535.6(PMS2):c.861_864delACAG (p.Arg287Serfs) http://identifiers.org/clinvar/91376 ^@ NM_000535.6(PMS2):c.862_863delCA (p.Gln288Valfs) http://identifiers.org/clinvar/91377 ^@ NM_000535.6(PMS2):c.903G>T (p.Lys301Asn) http://identifiers.org/clinvar/91378 ^@ NM_000535.6(PMS2):c.904-?_*(160_?)del http://identifiers.org/clinvar/91379 ^@ NM_000535.6(PMS2):c.904-?_1144+?del http://identifiers.org/clinvar/91380 ^@ NM_000535.6(PMS2):c.904-?_988+?del http://identifiers.org/clinvar/91381 ^@ NM_000535.6(PMS2):c.921T>G (p.Asn307Lys) http://identifiers.org/clinvar/91382 ^@ NM_000535.6(PMS2):c.943C>T (p.Arg315Ter) http://identifiers.org/clinvar/91383 ^@ NM_000535.6(PMS2):c.949C>T (p.Gln317Ter) http://identifiers.org/clinvar/91384 ^@ NM_000535.6(PMS2):c.988+78G>A http://identifiers.org/clinvar/91385 ^@ NM_000535.6(PMS2):c.989-296_1144+706del http://identifiers.org/clinvar/91386 ^@ NM_000535.6(PMS2):c.989-2A>G http://identifiers.org/clinvar/91387 ^@ NM_000535.6(PMS2):c.989-?_*(160_?)del http://identifiers.org/clinvar/91389 ^@ NM_001034853.1(RPGR):c.2405_2406delAG (p.Glu802Glyfs) http://identifiers.org/clinvar/91391 ^@ NM_001204182.1(NEK2):c.617_624delTGTATGAGinsA (p.Leu206Hisfs) http://identifiers.org/clinvar/91392 ^@ NM_001030311.2(CERKL):c.420delT (p.Ile141Leufs) http://identifiers.org/clinvar/91393 ^@ NM_001030311.2(CERKL):c.598A>T (p.Lys200Ter) http://identifiers.org/clinvar/91394 ^@ NM_001030311.2(CERKL):c.858delT (p.Pro287Leufs) http://identifiers.org/clinvar/91395 ^@ NM_001199107.1(TBC1D24):c.724C>T (p.Arg242Cys) http://identifiers.org/clinvar/91396 ^@ NM_001199107.1(TBC1D24):c.118C>T (p.Arg40Cys) http://identifiers.org/clinvar/91397 ^@ NM_001199107.1(TBC1D24):c.58C>G (p.Gln20Glu) http://identifiers.org/clinvar/91398 ^@ NM_001199107.1(TBC1D24):c.1008delT (p.His336Glnfs) http://identifiers.org/clinvar/91399 ^@ NM_001199107.1(TBC1D24):c.1206+5G>A http://identifiers.org/clinvar/91400 ^@ NM_015214.2(DDHD2):c.1982_1983delAT (p.Tyr661Cysfs) http://identifiers.org/clinvar/91402 ^@ NM_000539.3(RHO):c.217_219delAAC (p.Asn73del) http://identifiers.org/clinvar/91403 ^@ NM_001291415.1(KDM6A):c.2065_2068delTCTA (p.Ser689Thrfs) http://identifiers.org/clinvar/91404 ^@ NM_032580.3(HES7):c.385_394dupAAACCGCCCC (p.Arg132Glnfs) http://identifiers.org/clinvar/91405 ^@ NM_018249.5(CDK5RAP2):c.700G>T (p.Glu234Ter) http://identifiers.org/clinvar/91406 ^@ NM_018249.5(CDK5RAP2):c.4546G>T (p.Glu1516Ter) http://identifiers.org/clinvar/91407 ^@ NM_018249.5(CDK5RAP2):c.4672C>T (p.Arg1558Ter) http://identifiers.org/clinvar/91408 ^@ NM_152269.4(C12orf65):c.346delG (p.Val116Terfs) http://identifiers.org/clinvar/91409 ^@ NM_000059.3(BRCA2):c.5244C>A (p.Ser1748Arg) http://identifiers.org/clinvar/91410 ^@ NM_000059.3(BRCA2):c.5278T>G (p.Ser1760Ala) http://identifiers.org/clinvar/91411 ^@ NM_000059.3(BRCA2):c.5331_5333delGAA (p.Lys1777del) http://identifiers.org/clinvar/91412 ^@ NM_000059.3(BRCA2):c.5343_5344insA (p.Gln1782Thrfs) http://identifiers.org/clinvar/91413 ^@ NM_000059.3(BRCA2):c.5352delC (p.Asn1784Lysfs) http://identifiers.org/clinvar/91414 ^@ NM_000059.3(BRCA2):c.5438T>C (p.Leu1813Pro) http://identifiers.org/clinvar/91415 ^@ NM_000059.3(BRCA2):c.5495C>A (p.Ser1832Tyr) http://identifiers.org/clinvar/91416 ^@ NM_000059.3(BRCA2):c.5518G>C (p.Gly1840Arg) http://identifiers.org/clinvar/91417 ^@ NM_000059.3(BRCA2):c.5539G>A (p.Ala1847Thr) http://identifiers.org/clinvar/91418 ^@ NM_000059.3(BRCA2):c.5584_5587delGTGA (p.Val1862Lysfs) http://identifiers.org/clinvar/91419 ^@ NM_000059.3(BRCA2):c.5636A>G (p.Glu1879Gly) http://identifiers.org/clinvar/91420 ^@ NM_000059.3(BRCA2):c.5642A>T (p.Lys1881Ile) http://identifiers.org/clinvar/91421 ^@ NM_000059.3(BRCA2):c.5649A>C (p.Lys1883Asn) http://identifiers.org/clinvar/91422 ^@ NM_000059.3(BRCA2):c.5650A>G (p.Ile1884Val) http://identifiers.org/clinvar/91423 ^@ NM_000059.3(BRCA2):c.5692delG (p.Asp1898Metfs) http://identifiers.org/clinvar/91424 ^@ NM_000059.3(BRCA2):c.573T>A (p.Asp191Glu) http://identifiers.org/clinvar/91425 ^@ NM_000059.3(BRCA2):c.5813G>C (p.Gly1938Ala) http://identifiers.org/clinvar/91426 ^@ NM_000059.3(BRCA2):c.5842delT (p.Cys1948Valfs) http://identifiers.org/clinvar/91427 ^@ NM_000059.3(BRCA2):c.5893C>T (p.Leu1965Phe) http://identifiers.org/clinvar/91428 ^@ NM_000059.3(BRCA2):c.5921C>T (p.Thr1974Ile) http://identifiers.org/clinvar/91429 ^@ NM_000059.3(BRCA2):c.595G>A (p.Ala199Thr) http://identifiers.org/clinvar/91430 ^@ NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) http://identifiers.org/clinvar/91431 ^@ NM_000059.3(BRCA2):c.5969A>C (p.Asp1990Ala) http://identifiers.org/clinvar/91432 ^@ NM_000059.3(BRCA2):c.598A>G (p.Thr200Ala) http://identifiers.org/clinvar/91433 ^@ NM_000059.3(BRCA2):c.59A>G (p.Asn20Ser) http://identifiers.org/clinvar/91434 ^@ NM_000059.3(BRCA2):c.6018_6019dupTA (p.Thr2007Ilefs) http://identifiers.org/clinvar/91435 ^@ NM_000059.3(BRCA2):c.6059_6062delAACA (p.Glu2020Valfs) http://identifiers.org/clinvar/91437 ^@ NM_000059.3(BRCA2):c.608C>A (p.Thr203Asn) http://identifiers.org/clinvar/91438 ^@ NM_000059.3(BRCA2):c.6098T>A (p.Ile2033Lys) http://identifiers.org/clinvar/91439 ^@ NM_000059.3(BRCA2):c.6152A>G (p.Asn2051Ser) http://identifiers.org/clinvar/91440 ^@ NM_000059.3(BRCA2):c.6225A>C (p.Lys2075Asn) http://identifiers.org/clinvar/91441 ^@ NM_000059.3(BRCA2):c.6271A>C (p.Ser2091Arg) http://identifiers.org/clinvar/91442 ^@ NM_000059.3(BRCA2):c.6295A>G (p.Arg2099Gly) http://identifiers.org/clinvar/91443 ^@ NM_000059.3(BRCA2):c.6315A>C (p.Ile2105=) http://identifiers.org/clinvar/91444 ^@ NM_000059.3(BRCA2):c.6323G>T (p.Arg2108Leu) http://identifiers.org/clinvar/91445 ^@ NM_000059.3(BRCA2):c.635_636delGA (p.Arg212Lysfs) http://identifiers.org/clinvar/91446 ^@ NM_000059.3(BRCA2):c.6383A>C (p.Lys2128Thr) http://identifiers.org/clinvar/91447 ^@ NM_000059.3(BRCA2):c.6392_6396delAATTA (p.Lys2131Ilefs) http://identifiers.org/clinvar/91448 ^@ NM_000059.3(BRCA2):c.6405_6408delCTTA (p.Asn2135Lysfs) http://identifiers.org/clinvar/91449 ^@ NM_000059.3(BRCA2):c.6444delT (p.Ile2149Leufs) http://identifiers.org/clinvar/91450 ^@ NM_000059.3(BRCA2):c.6475C>G (p.Gln2159Glu) http://identifiers.org/clinvar/91451 ^@ NM_000059.3(BRCA2):c.6487C>T (p.Gln2163Ter) http://identifiers.org/clinvar/91452 ^@ NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) http://identifiers.org/clinvar/91453 ^@ NM_000059.3(BRCA2):c.6586A>T (p.Lys2196Ter) http://identifiers.org/clinvar/91454 ^@ NM_000059.3(BRCA2):c.6626_6627dupTA (p.Glu2210Terfs) http://identifiers.org/clinvar/91455 ^@ NM_000059.3(BRCA2):c.679G>A (p.Ala227Thr) http://identifiers.org/clinvar/91456 ^@ NM_000059.3(BRCA2):c.6806T>C (p.Ile2269Thr) http://identifiers.org/clinvar/91457 ^@ NM_000059.3(BRCA2):c.681+1G>A http://identifiers.org/clinvar/91458 ^@ NM_000059.3(BRCA2):c.683A>G (p.Asn228Ser) http://identifiers.org/clinvar/91459 ^@ NM_000059.3(BRCA2):c.6842-20T>C http://identifiers.org/clinvar/91460 ^@ NM_000059.3(BRCA2):c.6856A>C (p.Lys2286Gln) http://identifiers.org/clinvar/91461 ^@ NM_000059.3(BRCA2):c.6859_6863delAGAAA (p.Arg2287Leufs) http://identifiers.org/clinvar/91462 ^@ NM_000059.3(BRCA2):c.6863A>T (p.Asn2288Ile) http://identifiers.org/clinvar/91463 ^@ NM_000059.3(BRCA2):c.6922A>G (p.Lys2308Glu) http://identifiers.org/clinvar/91465 ^@ NM_000059.3(BRCA2):c.694T>C (p.Tyr232His) http://identifiers.org/clinvar/91466 ^@ NM_000059.3(BRCA2):c.6957A>C (p.Arg2319Ser) http://identifiers.org/clinvar/91467 ^@ NM_000059.3(BRCA2):c.6971A>G (p.His2324Arg) http://identifiers.org/clinvar/91468 ^@ NM_000059.3(BRCA2):c.6996_7004delTGTACCCTTins20 (p.?) http://identifiers.org/clinvar/91469 ^@ NM_000059.3(BRCA2):c.7021C>T (p.Arg2341Cys) http://identifiers.org/clinvar/91470 ^@ NM_000059.3(BRCA2):c.709G>A (p.Asp237Asn) http://identifiers.org/clinvar/91471 ^@ NM_000059.3(BRCA2):c.7142delC (p.Pro2381Hisfs) http://identifiers.org/clinvar/91472 ^@ NM_000059.3(BRCA2):c.7222C>T (p.Pro2408Ser) http://identifiers.org/clinvar/91473 ^@ NM_000059.3(BRCA2):c.7253G>A (p.Arg2418Lys) http://identifiers.org/clinvar/91474 ^@ NM_000059.3(BRCA2):c.7330G>T (p.Asp2444Tyr) http://identifiers.org/clinvar/91475 ^@ NM_000059.3(BRCA2):c.7354A>G (p.Asn2452Asp) http://identifiers.org/clinvar/91476 ^@ NM_000059.3(BRCA2):c.7355A>G (p.Asn2452Ser) http://identifiers.org/clinvar/91477 ^@ NM_000059.3(BRCA2):c.735A>C (p.Arg245Ser) http://identifiers.org/clinvar/91478 ^@ NM_000059.3(BRCA2):c.7436-10T>C http://identifiers.org/clinvar/91479 ^@ NM_000059.3(BRCA2):c.7436-19A>G http://identifiers.org/clinvar/91480 ^@ NM_000059.3(BRCA2):c.7436-9C>A http://identifiers.org/clinvar/91481 ^@ NM_000059.3(BRCA2):c.7525dupA (p.Ser2509Lysfs) http://identifiers.org/clinvar/91482 ^@ NM_000059.3(BRCA2):c.7556dupC (p.Arg2520Serfs) http://identifiers.org/clinvar/91483 ^@ NM_000059.3(BRCA2):c.7585G>A (p.Gly2529Ser) http://identifiers.org/clinvar/91484 ^@ NM_000059.3(BRCA2):c.7612A>G (p.Lys2538Glu) http://identifiers.org/clinvar/91485 ^@ NM_000059.3(BRCA2):c.7616A>G (p.Gln2539Arg) http://identifiers.org/clinvar/91486 ^@ NM_000059.3(BRCA2):c.7637C>T (p.Ser2546Phe) http://identifiers.org/clinvar/91487 ^@ NM_000059.3(BRCA2):c.7648A>G (p.Ile2550Val) http://identifiers.org/clinvar/91488 ^@ NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln) http://identifiers.org/clinvar/91489 ^@ NM_000059.3(BRCA2):c.7661G>A (p.Ser2554Asn) http://identifiers.org/clinvar/91490 ^@ NM_000059.3(BRCA2):c.7673A>T (p.Glu2558Val) http://identifiers.org/clinvar/91491 ^@ NM_000059.3(BRCA2):c.7733G>A (p.Gly2578Glu) http://identifiers.org/clinvar/91492 ^@ NM_000059.3(BRCA2):c.7786G>A (p.Gly2596Arg) http://identifiers.org/clinvar/91493 ^@ NM_000059.3(BRCA2):c.7806-7T>C http://identifiers.org/clinvar/91494 ^@ NM_000059.3(BRCA2):c.7819A>G (p.Thr2607Ala) http://identifiers.org/clinvar/91495 ^@ NM_000059.3(BRCA2):c.7856G>C (p.Trp2619Ser) http://identifiers.org/clinvar/91496 ^@ NM_000059.3(BRCA2):c.7865A>G (p.Asn2622Ser) http://identifiers.org/clinvar/91497 ^@ NM_000059.3(BRCA2):c.7889_7890dupAA (p.Leu2631Asnfs) http://identifiers.org/clinvar/91498 ^@ NM_000059.3(BRCA2):c.7928C>T (p.Ala2643Val) http://identifiers.org/clinvar/91499 ^@ NM_000059.3(BRCA2):c.794-9C>T http://identifiers.org/clinvar/91500 ^@ NM_000059.3(BRCA2):c.8078T>A (p.Ile2693Lys) http://identifiers.org/clinvar/91501 ^@ NM_000059.3(BRCA2):c.8125A>G (p.Ser2709Gly) http://identifiers.org/clinvar/91502 ^@ NM_000059.3(BRCA2):c.8128A>G (p.Ser2710Gly) http://identifiers.org/clinvar/91503 ^@ NM_000059.3(BRCA2):c.814A>G (p.Asn272Asp) http://identifiers.org/clinvar/91504 ^@ NM_000059.3(BRCA2):c.8200_8209delCCTCCCCTCT (p.Pro2734Terfs) http://identifiers.org/clinvar/91505 ^@ NM_000059.3(BRCA2):c.8285C>T (p.Pro2762Leu) http://identifiers.org/clinvar/91506 ^@ NM_000059.3(BRCA2):c.8308delG (p.Ala2770Profs) http://identifiers.org/clinvar/91507 ^@ NM_000059.3(BRCA2):c.8331+2T>A http://identifiers.org/clinvar/91508 ^@ NM_000059.3(BRCA2):c.8366A>G (p.Tyr2789Cys) http://identifiers.org/clinvar/91509 ^@ NM_000059.3(BRCA2):c.8374C>T (p.Leu2792Phe) http://identifiers.org/clinvar/91510 ^@ NM_000059.3(BRCA2):c.8374delC (p.Gly2793Aspfs) http://identifiers.org/clinvar/91511 ^@ NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) http://identifiers.org/clinvar/91512 ^@ NM_000059.3(BRCA2):c.8400_8402delTTTins4 http://identifiers.org/clinvar/91513 ^@ NM_000059.3(BRCA2):c.8405C>G (p.Pro2802Arg) http://identifiers.org/clinvar/91514 ^@ NM_000059.3(BRCA2):c.8488-19G>A http://identifiers.org/clinvar/91515 ^@ NM_000059.3(BRCA2):c.8581A>T (p.Arg2861Ter) http://identifiers.org/clinvar/91516 ^@ NM_000059.3(BRCA2):c.9060delT (p.Glu3021Lysfs) http://identifiers.org/clinvar/91517 ^@ NM_000059.3(BRCA2):c.9127G>T (p.Glu3043Ter) http://identifiers.org/clinvar/91518 ^@ NM_000059.3(BRCA2):c.9205T>G (p.Cys3069Gly) http://identifiers.org/clinvar/91519 ^@ NM_000059.3(BRCA2):c.9252_9255delAACAinsTT (p.Lys3084Asnfs) http://identifiers.org/clinvar/91520 ^@ NM_000059.3(BRCA2):c.9257-17dupT http://identifiers.org/clinvar/91521 ^@ NM_000059.3(BRCA2):c.9257-8C>T http://identifiers.org/clinvar/91522 ^@ NM_000059.3(BRCA2):c.9275A>T (p.Tyr3092Phe) http://identifiers.org/clinvar/91523 ^@ NM_000059.3(BRCA2):c.9376delC (p.Gln3126Serfs) http://identifiers.org/clinvar/91524 ^@ NM_000059.3(BRCA2):c.9391T>C (p.Ser3131Pro) http://identifiers.org/clinvar/91525 ^@ NM_000059.3(BRCA2):c.9407T>C (p.Leu3136Pro) http://identifiers.org/clinvar/91526 ^@ NM_000059.3(BRCA2):c.9496G>A (p.Val3166Ile) http://identifiers.org/clinvar/91527 ^@ NM_000059.3(BRCA2):c.9564T>A (p.Asp3188Glu) http://identifiers.org/clinvar/91529 ^@ NM_000059.3(BRCA2):c.9573G>A (p.Trp3191Ter) http://identifiers.org/clinvar/91530 ^@ NM_000059.3(BRCA2):c.9682delA (p.Ser3228Valfs) http://identifiers.org/clinvar/91531 ^@ NM_000059.3(BRCA2):c.968T>G (p.Val323Gly) http://identifiers.org/clinvar/91532 ^@ NM_000059.3(BRCA2):c.9698G>A (p.Cys3233Tyr) http://identifiers.org/clinvar/91533 ^@ NM_000059.3(BRCA2):c.9722C>G (p.Ser3241Cys) http://identifiers.org/clinvar/91534 ^@ NM_000059.3(BRCA2):c.9808delG (p.Ala3270Profs) http://identifiers.org/clinvar/91535 ^@ NM_000059.3(BRCA2):c.9824delG (p.Ser3275Ilefs) http://identifiers.org/clinvar/91536 ^@ NM_000059.3(BRCA2):c.9857T>A (p.Ile3286Asn) http://identifiers.org/clinvar/91537 ^@ NM_000059.3(BRCA2):c.9896A>C (p.Gln3299Pro) http://identifiers.org/clinvar/91538 ^@ NM_007294.3(BRCA1):c.-19-8T>C http://identifiers.org/clinvar/91539 ^@ NM_007294.3(BRCA1):c.1086_1141del56 (p.Asn363Serfs) http://identifiers.org/clinvar/91540 ^@ NM_007294.3(BRCA1):c.1093A>T (p.Arg365Ter) http://identifiers.org/clinvar/91541 ^@ NM_007294.3(BRCA1):c.1202G>C (p.Gly401Ala) http://identifiers.org/clinvar/91542 ^@ NM_007294.3(BRCA1):c.1256T>G (p.Val419Gly) http://identifiers.org/clinvar/91543 ^@ NM_007294.3(BRCA1):c.1292delT (p.Leu431Tyrfs) http://identifiers.org/clinvar/91544 ^@ NM_007294.3(BRCA1):c.1326_1327insGT (p.Lys443Valfs) http://identifiers.org/clinvar/91545 ^@ NM_007294.3(BRCA1):c.1327A>T (p.Lys443Ter) http://identifiers.org/clinvar/91546 ^@ NM_007294.3(BRCA1):c.1336dupA (p.Arg446Lysfs) http://identifiers.org/clinvar/91547 ^@ NM_007294.3(BRCA1):c.134+2T>C http://identifiers.org/clinvar/91548 ^@ NM_007294.3(BRCA1):c.134+5G>A http://identifiers.org/clinvar/91549 ^@ NM_007294.3(BRCA1):c.1361delG (p.Ser454Ilefs) http://identifiers.org/clinvar/91550 ^@ NM_007294.3(BRCA1):c.1377_1378delAA (p.Lys459Asnfs) http://identifiers.org/clinvar/91551 ^@ NM_007294.3(BRCA1):c.1379T>G (p.Ile460Arg) http://identifiers.org/clinvar/91552 ^@ NM_007294.3(BRCA1):c.1397G>A (p.Arg466Gln) http://identifiers.org/clinvar/91553 ^@ NM_007294.3(BRCA1):c.141C>A (p.Cys47Ter) http://identifiers.org/clinvar/91554 ^@ NM_007294.3(BRCA1):c.1512dupT (p.Lys505Terfs) http://identifiers.org/clinvar/91555 ^@ NM_007294.3(BRCA1):c.1523C>T (p.Pro508Leu) http://identifiers.org/clinvar/91556 ^@ NM_007294.3(BRCA1):c.154C>A (p.Leu52Ile) http://identifiers.org/clinvar/91557 ^@ NM_007294.3(BRCA1):c.1607C>G (p.Thr536Ser) http://identifiers.org/clinvar/91558 ^@ NM_007294.3(BRCA1):c.1609A>G (p.Asn537Asp) http://identifiers.org/clinvar/91559 ^@ NM_007294.3(BRCA1):c.160C>A (p.Gln54Lys) http://identifiers.org/clinvar/91560 ^@ NM_007294.3(BRCA1):c.1628delG (p.Gly543Valfs) http://identifiers.org/clinvar/91561 ^@ NM_007294.3(BRCA1):c.1744delA (p.Thr582Argfs) http://identifiers.org/clinvar/91562 ^@ NM_007294.3(BRCA1):c.1747A>G (p.Lys583Glu) http://identifiers.org/clinvar/91563 ^@ NM_007294.3(BRCA1):c.1759delA (p.Ile587Terfs) http://identifiers.org/clinvar/91564 ^@ NM_007294.3(BRCA1):c.1799T>G (p.Ile600Ser) http://identifiers.org/clinvar/91565 ^@ NM_007294.3(BRCA1):c.1828A>G (p.Arg610Gly) http://identifiers.org/clinvar/91566 ^@ NM_007294.3(BRCA1):c.1844C>T (p.Ser615Phe) http://identifiers.org/clinvar/91567 ^@ NM_007294.3(BRCA1):c.1875delA (p.Val626Terfs) http://identifiers.org/clinvar/91568 ^@ NM_007294.3(BRCA1):c.1898C>T (p.Pro633Leu) http://identifiers.org/clinvar/91569 ^@ NM_007294.3(BRCA1):c.18_19insG (p.Arg7Alafs) http://identifiers.org/clinvar/91570 ^@ NM_007294.3(BRCA1):c.1907G>A (p.Cys636Tyr) http://identifiers.org/clinvar/91571 ^@ NM_007294.3(BRCA1):c.1921delA (p.Ile641Leufs) http://identifiers.org/clinvar/91572 ^@ NM_007294.3(BRCA1):c.199G>A (p.Asp67Asn) http://identifiers.org/clinvar/91573 ^@ NM_007294.3(BRCA1):c.203_204delTA (p.Ile68Asnfs) http://identifiers.org/clinvar/91574 ^@ NM_007294.3(BRCA1):c.2070_2071delAA (p.Arg691Thrfs) http://identifiers.org/clinvar/91575 ^@ NM_007294.3(BRCA1):c.212+4T>A http://identifiers.org/clinvar/91576 ^@ NM_007294.3(BRCA1):c.2123C>T (p.Ser708Phe) http://identifiers.org/clinvar/91577 ^@ NM_007294.3(BRCA1):c.2131_2132delAA (p.Lys711Valfs) http://identifiers.org/clinvar/91578 ^@ NM_007294.3(BRCA1):c.2199delG (p.Lys734Asnfs) http://identifiers.org/clinvar/91580 ^@ NM_007294.3(BRCA1):c.2246_2247insGA (p.Asp749Glufs) http://identifiers.org/clinvar/91581 ^@ NM_007294.3(BRCA1):c.2296A>G (p.Ser766Gly) http://identifiers.org/clinvar/91582 ^@ NM_007294.3(BRCA1):c.2299A>T (p.Ser767Cys) http://identifiers.org/clinvar/91583 ^@ NM_007294.3(BRCA1):c.2302A>G (p.Ser768Gly) http://identifiers.org/clinvar/91584 ^@ NM_007294.3(BRCA1):c.2338C>G (p.Gln780Glu) http://identifiers.org/clinvar/91585 ^@ NM_007294.3(BRCA1):c.2386dupA (p.Thr796Asnfs) http://identifiers.org/clinvar/91586 ^@ NM_007294.3(BRCA1):c.2389G>A (p.Glu797Lys) http://identifiers.org/clinvar/91587 ^@ NM_007294.3(BRCA1):c.2392C>T (p.Pro798Ser) http://identifiers.org/clinvar/91588 ^@ NM_007294.3(BRCA1):c.241_251delCAACTTGTTGA (p.Gln81Argfs) http://identifiers.org/clinvar/91589 ^@ NM_007294.3(BRCA1):c.2423T>C (p.Phe808Ser) http://identifiers.org/clinvar/91590 ^@ NM_007294.3(BRCA1):c.2504_2505ins17 (p.?) http://identifiers.org/clinvar/91591 ^@ NM_007294.3(BRCA1):c.250G>T (p.Glu84Ter) http://identifiers.org/clinvar/91592 ^@ NM_007294.3(BRCA1):c.2525A>G (p.Glu842Gly) http://identifiers.org/clinvar/91593 ^@ NM_007294.3(BRCA1):c.2551G>A (p.Glu851Lys) http://identifiers.org/clinvar/91594 ^@ NM_007294.3(BRCA1):c.2612C>G (p.Pro871Arg) http://identifiers.org/clinvar/91595 ^@ NM_007294.3(BRCA1):c.2654delT (p.Phe885Serfs) http://identifiers.org/clinvar/91596 ^@ NM_007294.3(BRCA1):c.2686dupA (p.Ser896Lysfs) http://identifiers.org/clinvar/91597 ^@ NM_007294.3(BRCA1):c.2706A>C (p.Glu902Asp) http://identifiers.org/clinvar/91598 ^@ NM_007294.3(BRCA1):c.2746A>T (p.Asn916Tyr) http://identifiers.org/clinvar/91599 ^@ NM_007294.3(BRCA1):c.2748delT (p.Asn916Lysfs) http://identifiers.org/clinvar/91600 ^@ NM_007294.3(BRCA1):c.2754G>T (p.Lys918Asn) http://identifiers.org/clinvar/91601 ^@ NM_007294.3(BRCA1):c.2774delT (p.Ile925Thrfs) http://identifiers.org/clinvar/91602 ^@ NM_007294.3(BRCA1):c.2902_2903insTC (p.Pro968Leufs) http://identifiers.org/clinvar/91603 ^@ NM_007294.3(BRCA1):c.2940delA (p.Pro981Hisfs) http://identifiers.org/clinvar/91604 ^@ NM_007294.3(BRCA1):c.3041T>C (p.Met1014Thr) http://identifiers.org/clinvar/91605 ^@ NM_007294.3(BRCA1):c.3151A>G (p.Thr1051Ala) http://identifiers.org/clinvar/91606 ^@ NM_007294.3(BRCA1):c.3155A>G (p.Asn1052Ser) http://identifiers.org/clinvar/91607 ^@ NM_007294.3(BRCA1):c.3204delT (p.Gln1069Lysfs) http://identifiers.org/clinvar/91609 ^@ NM_007294.3(BRCA1):c.3599_3600delAG (p.Gln1200Argfs) http://identifiers.org/clinvar/91610 ^@ NM_007294.3(BRCA1):c.3642G>T (p.Glu1214Asp) http://identifiers.org/clinvar/91611 ^@ NM_007294.3(BRCA1):c.3650C>G (p.Ser1217Cys) http://identifiers.org/clinvar/91612 ^@ NM_007294.3(BRCA1):c.3672delC (p.Cys1225Alafs) http://identifiers.org/clinvar/91614 ^@ NM_007294.3(BRCA1):c.3761_3762insTT (p.Lys1254Asnfs) http://identifiers.org/clinvar/91615 ^@ NM_007294.3(BRCA1):c.3798C>G (p.Ser1266Arg) http://identifiers.org/clinvar/91616 ^@ NM_007294.3(BRCA1):c.3839_3843delCTCAGins4 http://identifiers.org/clinvar/91617 ^@ NM_007294.3(BRCA1):c.3868A>G (p.Lys1290Glu) http://identifiers.org/clinvar/91618 ^@ NM_007294.3(BRCA1):c.3897G>T (p.Gln1299His) http://identifiers.org/clinvar/91619 ^@ NM_007294.3(BRCA1):c.397C>A (p.Arg133Ser) http://identifiers.org/clinvar/91620 ^@ NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter) http://identifiers.org/clinvar/91621 ^@ NM_007294.3(BRCA1):c.4062_4065delTAAT (p.Asn1355Lysfs) http://identifiers.org/clinvar/91622 ^@ NM_007294.3(BRCA1):c.4088C>T (p.Ser1363Leu) http://identifiers.org/clinvar/91623 ^@ NM_007294.3(BRCA1):c.4094T>G (p.Leu1365Ter) http://identifiers.org/clinvar/91624 ^@ NM_007294.3(BRCA1):c.4116_4117insTT (p.Glu1373Leufs) http://identifiers.org/clinvar/91625 ^@ NM_007294.3(BRCA1):c.4155_4156ins10 (p.?) http://identifiers.org/clinvar/91626 ^@ NM_007294.3(BRCA1):c.4186-3A>G http://identifiers.org/clinvar/91627 ^@ NM_007294.3(BRCA1):c.4272G>C (p.Gln1424His) http://identifiers.org/clinvar/91628 ^@ NM_007294.3(BRCA1):c.4354A>T (p.Lys1452Ter) http://identifiers.org/clinvar/91629 ^@ NM_007294.3(BRCA1):c.4357+2T>G http://identifiers.org/clinvar/91630 ^@ NM_007294.3(BRCA1):c.4417T>C (p.Ser1473Pro) http://identifiers.org/clinvar/91631 ^@ NM_007294.3(BRCA1):c.4493delC (p.Pro1498Leufs) http://identifiers.org/clinvar/91632 ^@ NM_007294.3(BRCA1):c.4544G>A (p.Gly1515Glu) http://identifiers.org/clinvar/91633 ^@ NM_007294.3(BRCA1):c.4589A>C (p.Lys1530Thr) http://identifiers.org/clinvar/91634 ^@ NM_007294.3(BRCA1):c.4676-16C>G http://identifiers.org/clinvar/91635 ^@ NM_007294.3(BRCA1):c.4987-20A>G http://identifiers.org/clinvar/91636 ^@ NM_007294.3(BRCA1):c.5074+6C>G http://identifiers.org/clinvar/91637 ^@ NM_007294.3(BRCA1):c.5075-3C>G http://identifiers.org/clinvar/91638 ^@ NM_007294.3(BRCA1):c.5129G>A (p.Gly1710Glu) http://identifiers.org/clinvar/91639 ^@ NM_007294.3(BRCA1):c.5153-3T>C http://identifiers.org/clinvar/91640 ^@ NM_007294.3(BRCA1):c.5186delT (p.Leu1729Argfs) http://identifiers.org/clinvar/91641 ^@ NM_007294.3(BRCA1):c.5191G>A (p.Glu1731Lys) http://identifiers.org/clinvar/91642 ^@ NM_007294.3(BRCA1):c.5193+1G>T http://identifiers.org/clinvar/91643 ^@ NM_007294.3(BRCA1):c.5197G>A (p.Asp1733Asn) http://identifiers.org/clinvar/91644 ^@ NM_007294.3(BRCA1):c.5277+1delG http://identifiers.org/clinvar/91645 ^@ NM_007294.3(BRCA1):c.5278-14C>G http://identifiers.org/clinvar/91646 ^@ NM_007294.3(BRCA1):c.5285G>T (p.Arg1762Met) http://identifiers.org/clinvar/91647 ^@ NM_007294.3(BRCA1):c.5327C>T (p.Pro1776Leu) http://identifiers.org/clinvar/91648 ^@ NM_007294.3(BRCA1):c.5330C>T (p.Thr1777Ile) http://identifiers.org/clinvar/91649 ^@ NM_007294.3(BRCA1):c.5357T>C (p.Leu1786Pro) http://identifiers.org/clinvar/91650 ^@ NM_007294.3(BRCA1):c.5458G>A (p.Gly1820Ser) http://identifiers.org/clinvar/91651 ^@ NM_007294.3(BRCA1):c.5467+8G>A http://identifiers.org/clinvar/91652 ^@ NM_007294.3(BRCA1):c.5468-10_5468-9delCT http://identifiers.org/clinvar/91653 ^@ NM_007294.3(BRCA1):c.5468-2A>G http://identifiers.org/clinvar/91654 ^@ NM_007294.3(BRCA1):c.5473G>A (p.Gly1825Arg) http://identifiers.org/clinvar/91655 ^@ NM_007294.3(BRCA1):c.548-18delT http://identifiers.org/clinvar/91656 ^@ NM_007294.3(BRCA1):c.5516T>C (p.Leu1839Ser) http://identifiers.org/clinvar/91657 ^@ NM_007294.3(BRCA1):c.593+3G>A http://identifiers.org/clinvar/91658 ^@ NM_007294.3(BRCA1):c.607G>A (p.Glu203Lys) http://identifiers.org/clinvar/91659 ^@ NM_007294.3(BRCA1):c.646A>G (p.Ile216Val) http://identifiers.org/clinvar/91660 ^@ NM_007294.3(BRCA1):c.665A>G (p.Lys222Arg) http://identifiers.org/clinvar/91661 ^@ NM_007294.3(BRCA1):c.670+1G>T http://identifiers.org/clinvar/91662 ^@ NM_007294.3(BRCA1):c.671-10A>G http://identifiers.org/clinvar/91663 ^@ NM_007294.3(BRCA1):c.671-1G>C http://identifiers.org/clinvar/91664 ^@ NM_007294.3(BRCA1):c.695A>T (p.Asp232Val) http://identifiers.org/clinvar/91665 ^@ NM_007294.3(BRCA1):c.80+7C>A http://identifiers.org/clinvar/91666 ^@ NM_007294.3(BRCA1):c.81-12C>G http://identifiers.org/clinvar/91667 ^@ NM_007294.3(BRCA1):c.81-12delC http://identifiers.org/clinvar/91668 ^@ NM_007294.3(BRCA1):c.81-1G>A http://identifiers.org/clinvar/91669 ^@ NM_007294.3(BRCA1):c.936delC (p.Leu313Terfs) http://identifiers.org/clinvar/91670 ^@ NP_000050.2(BRCA2):p.Asn1880Lys http://identifiers.org/clinvar/91671 ^@ NP_000050.2(BRCA2):p.Asp3095Glu http://identifiers.org/clinvar/91672 ^@ NP_000050.2(BRCA2):p.Cys315Ser http://identifiers.org/clinvar/91673 ^@ NP_000050.2(BRCA2):p.Gly1529Arg http://identifiers.org/clinvar/91674 ^@ NP_000050.2(BRCA2):p.Gly2576Arg http://identifiers.org/clinvar/91675 ^@ NP_000050.2(BRCA2):p.Gly602Arg http://identifiers.org/clinvar/91676 ^@ NP_000050.2(BRCA2):p.Ile982Leu http://identifiers.org/clinvar/91677 ^@ NP_000050.2(BRCA2):p.Leu1042Phe http://identifiers.org/clinvar/91678 ^@ NP_000050.2(BRCA2):p.Leu557Ter http://identifiers.org/clinvar/91679 ^@ NP_000050.2(BRCA2):p.Lys1690Asn http://identifiers.org/clinvar/91680 ^@ NP_000050.2(BRCA2):p.Lys2729Asn http://identifiers.org/clinvar/91681 ^@ NP_000050.2(BRCA2):p.Lys2950Asn http://identifiers.org/clinvar/91682 ^@ NP_000050.2(BRCA2):p.Lys382Asn http://identifiers.org/clinvar/91683 ^@ NP_000050.2(BRCA2):p.Met1Ile http://identifiers.org/clinvar/91684 ^@ NP_000050.2(BRCA2):p.Phe2642Leu http://identifiers.org/clinvar/91685 ^@ NP_000050.2(BRCA2):p.Ser1630Ter http://identifiers.org/clinvar/91686 ^@ NP_000050.2(BRCA2):p.Ser1760Ter http://identifiers.org/clinvar/91687 ^@ NP_000050.2(BRCA2):p.Ser1882Ter http://identifiers.org/clinvar/91688 ^@ NP_000050.2(BRCA2):p.Ser1955Ter http://identifiers.org/clinvar/91689 ^@ NP_000050.2(BRCA2):p.Ser1970Ter http://identifiers.org/clinvar/91690 ^@ NP_000050.2(BRCA2):p.Ser1979Arg http://identifiers.org/clinvar/91691 ^@ NP_000050.2(BRCA2):p.Ser2984Ter http://identifiers.org/clinvar/91692 ^@ NP_000050.2(BRCA2):p.Ser2994Ter http://identifiers.org/clinvar/91693 ^@ NP_000050.2(BRCA2):p.Ser611Ter http://identifiers.org/clinvar/91694 ^@ NP_000050.2(BRCA2):p.Ser780Ter http://identifiers.org/clinvar/91695 ^@ NP_000050.2(BRCA2):p.Ser869Ter http://identifiers.org/clinvar/91696 ^@ NP_000050.2(BRCA2):p.Thr2790Ser http://identifiers.org/clinvar/91697 ^@ NP_000050.2(BRCA2):p.Trp2586Ter http://identifiers.org/clinvar/91698 ^@ NP_000050.2(BRCA2):p.Trp2626Cys http://identifiers.org/clinvar/91699 ^@ NP_000050.2(BRCA2):p.Trp3127Ter http://identifiers.org/clinvar/91700 ^@ NP_000050.2(BRCA2):p.Trp993Ter http://identifiers.org/clinvar/91701 ^@ NP_000050.2(BRCA2):p.Tyr1655Ter http://identifiers.org/clinvar/91702 ^@ NP_000050.2(BRCA2):p.Tyr1894Ter http://identifiers.org/clinvar/91703 ^@ NP_000050.2(BRCA2):p.Tyr3308Ter http://identifiers.org/clinvar/91704 ^@ NP_000050.2(BRCA2):p.Tyr792Ter http://identifiers.org/clinvar/91705 ^@ NP_000050.2(BRCA2):p.Val2171Ile http://identifiers.org/clinvar/91706 ^@ NP_009225.1(BRCA1):p.Ala521Ter http://identifiers.org/clinvar/91707 ^@ NP_009225.1(BRCA1):p.Arg1645Ser http://identifiers.org/clinvar/91708 ^@ NP_009225.1(BRCA1):p.Cys39Ser http://identifiers.org/clinvar/91709 ^@ NP_009225.1(BRCA1):p.Glu1219Asp http://identifiers.org/clinvar/91710 ^@ NP_009225.1(BRCA1):p.Gly1738Arg http://identifiers.org/clinvar/91711 ^@ NP_009225.1(BRCA1):p.Leu1230Ter http://identifiers.org/clinvar/91712 ^@ NP_009225.1(BRCA1):p.Leu204Phe http://identifiers.org/clinvar/91713 ^@ NP_009225.1(BRCA1):p.Leu598Ter http://identifiers.org/clinvar/91714 ^@ NP_009225.1(BRCA1):p.Lys970Asn http://identifiers.org/clinvar/91715 ^@ NP_009225.1(BRCA1):p.Phe486Leu http://identifiers.org/clinvar/91716 ^@ NP_009225.1(BRCA1):p.Ser1383Ter http://identifiers.org/clinvar/91717 ^@ NP_009225.1(BRCA1):p.Ser316Arg http://identifiers.org/clinvar/91718 ^@ NP_009225.1(BRCA1):p.Ser378Arg http://identifiers.org/clinvar/91719 ^@ NP_009225.1(BRCA1):p.Ser868Ter http://identifiers.org/clinvar/91720 ^@ NP_009225.1(BRCA1):p.Trp1508Ter http://identifiers.org/clinvar/91721 ^@ NP_009225.1(BRCA1):p.Trp1718Cys http://identifiers.org/clinvar/91722 ^@ NP_009225.1(BRCA1):p.Trp1782Ter http://identifiers.org/clinvar/91723 ^@ NP_009225.1(BRCA1):p.Trp1815Ter http://identifiers.org/clinvar/91724 ^@ NP_009225.1(BRCA1):p.Trp1837Arg http://identifiers.org/clinvar/91725 ^@ NP_009225.1(BRCA1):p.Trp321Ter http://identifiers.org/clinvar/91726 ^@ NP_009225.1(BRCA1):p.Tyr1563Ter http://identifiers.org/clinvar/91727 ^@ NP_009225.1(BRCA1):p.Tyr1703Ter http://identifiers.org/clinvar/91728 ^@ NP_009225.1(BRCA1):p.Tyr261Ter http://identifiers.org/clinvar/91730 ^@ NM_000059.3(BRCA2):c.8632G>A (p.Glu2878Lys) http://identifiers.org/clinvar/91731 ^@ NM_000059.3(BRCA2):c.8633-1G>A http://identifiers.org/clinvar/91732 ^@ NM_000059.3(BRCA2):c.8662C>T (p.Arg2888Cys) http://identifiers.org/clinvar/91733 ^@ NM_000059.3(BRCA2):c.8699A>T (p.Asp2900Val) http://identifiers.org/clinvar/91734 ^@ NM_000059.3(BRCA2):c.8755-19A>G http://identifiers.org/clinvar/91735 ^@ NM_000059.3(BRCA2):c.8807T>C (p.Leu2936Ser) http://identifiers.org/clinvar/91736 ^@ NM_000059.3(BRCA2):c.8839G>T (p.Glu2947Ter) http://identifiers.org/clinvar/91737 ^@ NM_000059.3(BRCA2):c.8933C>G (p.Ser2978Ter) http://identifiers.org/clinvar/91738 ^@ NM_000059.3(BRCA2):c.8942A>G (p.Glu2981Gly) http://identifiers.org/clinvar/91739 ^@ NM_000059.3(BRCA2):c.8954-13T>G http://identifiers.org/clinvar/91740 ^@ NM_000059.3(BRCA2):c.8954-16_8954-8del9 http://identifiers.org/clinvar/91741 ^@ NM_000059.3(BRCA2):c.8958A>G (p.Ile2986Met) http://identifiers.org/clinvar/91742 ^@ NM_000059.3(BRCA2):c.9053G>A (p.Ser3018Asn) http://identifiers.org/clinvar/91743 ^@ NM_000059.3(BRCA2):c.-39-14C>T http://identifiers.org/clinvar/91744 ^@ NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) http://identifiers.org/clinvar/91745 ^@ NM_000059.3(BRCA2):c.10253_10256delTCTA (p.Ile3418Lysfs) http://identifiers.org/clinvar/91746 ^@ NM_000059.3(BRCA2):c.1066T>A (p.Ser356Thr) http://identifiers.org/clinvar/91747 ^@ NM_000059.3(BRCA2):c.1141G>A (p.Asp381Asn) http://identifiers.org/clinvar/91748 ^@ NM_000059.3(BRCA2):c.116C>T (p.Ala39Val) http://identifiers.org/clinvar/91749 ^@ NM_000059.3(BRCA2):c.1261C>G (p.Gln421Glu) http://identifiers.org/clinvar/91750 ^@ NM_000059.3(BRCA2):c.1304G>A (p.Arg435Lys) http://identifiers.org/clinvar/91751 ^@ NM_000059.3(BRCA2):c.1399_1402delAAGA (p.Lys467Glufs) http://identifiers.org/clinvar/91752 ^@ NM_000059.3(BRCA2):c.1405G>C (p.Asp469His) http://identifiers.org/clinvar/91753 ^@ NM_000059.3(BRCA2):c.1582A>G (p.Asn528Asp) http://identifiers.org/clinvar/91754 ^@ NM_000059.3(BRCA2):c.1642C>T (p.Gln548Ter) http://identifiers.org/clinvar/91755 ^@ NM_000059.3(BRCA2):c.172G>A (p.Glu58Lys) http://identifiers.org/clinvar/91756 ^@ NM_000059.3(BRCA2):c.1733G>A (p.Gly578Asp) http://identifiers.org/clinvar/91757 ^@ NM_000059.3(BRCA2):c.1762A>G (p.Asn588Asp) http://identifiers.org/clinvar/91758 ^@ NM_000059.3(BRCA2):c.1805G>T (p.Gly602Val) http://identifiers.org/clinvar/91759 ^@ NM_000059.3(BRCA2):c.1814T>C (p.Ile605Thr) http://identifiers.org/clinvar/91760 ^@ NM_000059.3(BRCA2):c.1819A>T (p.Lys607Ter) http://identifiers.org/clinvar/91761 ^@ NM_000059.3(BRCA2):c.186delT (p.Phe62Leufs) http://identifiers.org/clinvar/91762 ^@ NM_000059.3(BRCA2):c.1885C>T (p.Leu629Phe) http://identifiers.org/clinvar/91764 ^@ NM_000059.3(BRCA2):c.1945C>T (p.Gln649Ter) http://identifiers.org/clinvar/91765 ^@ NM_000059.3(BRCA2):c.1966A>G (p.Thr656Ala) http://identifiers.org/clinvar/91766 ^@ NM_000059.3(BRCA2):c.2025delA (p.Cys676Valfs) http://identifiers.org/clinvar/91767 ^@ NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe) http://identifiers.org/clinvar/91768 ^@ NM_000059.3(BRCA2):c.2045T>C (p.Ile682Thr) http://identifiers.org/clinvar/91769 ^@ NM_000059.3(BRCA2):c.2047T>C (p.Ser683Pro) http://identifiers.org/clinvar/91770 ^@ NM_000059.3(BRCA2):c.217C>T (p.Gln73Ter) http://identifiers.org/clinvar/91771 ^@ NM_000059.3(BRCA2):c.2214T>A (p.Cys738Ter) http://identifiers.org/clinvar/91772 ^@ NM_000059.3(BRCA2):c.2252C>T (p.Thr751Ile) http://identifiers.org/clinvar/91773 ^@ NM_000059.3(BRCA2):c.2253_2254delTG (p.Asp752Leufs) http://identifiers.org/clinvar/91774 ^@ NM_000059.3(BRCA2):c.232C>T (p.Pro78Ser) http://identifiers.org/clinvar/91775 ^@ NM_000059.3(BRCA2):c.2330dupA (p.Asp777Glufs) http://identifiers.org/clinvar/91776 ^@ NM_000059.3(BRCA2):c.2368G>T (p.Glu790Ter) http://identifiers.org/clinvar/91777 ^@ NM_000059.3(BRCA2):c.2370delA (p.Glu790Aspfs) http://identifiers.org/clinvar/91778 ^@ NM_000059.3(BRCA2):c.2424A>G (p.Glu808=) http://identifiers.org/clinvar/91779 ^@ NM_000059.3(BRCA2):c.2617dupA (p.Ile873Asnfs) http://identifiers.org/clinvar/91780 ^@ NM_000059.3(BRCA2):c.2618dupT (p.Thr874Asnfs) http://identifiers.org/clinvar/91781 ^@ NM_000059.3(BRCA2):c.2654A>G (p.Asp885Gly) http://identifiers.org/clinvar/91782 ^@ NM_000059.3(BRCA2):c.2657A>G (p.Asn886Ser) http://identifiers.org/clinvar/91783 ^@ NM_000059.3(BRCA2):c.2676C>A (p.Phe892Leu) http://identifiers.org/clinvar/91784 ^@ NM_000059.3(BRCA2):c.2692_2696delAGGAA (p.Arg898Terfs) http://identifiers.org/clinvar/91785 ^@ NM_000059.3(BRCA2):c.2758C>T (p.Pro920Ser) http://identifiers.org/clinvar/91787 ^@ NM_000059.3(BRCA2):c.2808delA (p.Lys936Asnfs) http://identifiers.org/clinvar/91788 ^@ NM_000059.3(BRCA2):c.2822T>G (p.Val941Gly) http://identifiers.org/clinvar/91789 ^@ NM_000059.3(BRCA2):c.2835A>C (p.Lys945Asn) http://identifiers.org/clinvar/91790 ^@ NM_000059.3(BRCA2):c.2924T>G (p.Ile975Ser) http://identifiers.org/clinvar/91791 ^@ NM_000059.3(BRCA2):c.2942A>G (p.Lys981Arg) http://identifiers.org/clinvar/91793 ^@ NM_000059.3(BRCA2):c.2981C>T (p.Ala994Val) http://identifiers.org/clinvar/91794 ^@ NM_000059.3(BRCA2):c.3010A>G (p.Ser1004Gly) http://identifiers.org/clinvar/91795 ^@ NM_000059.3(BRCA2):c.3268A>G (p.Met1090Val) http://identifiers.org/clinvar/91796 ^@ NM_000059.3(BRCA2):c.3302A>G (p.His1101Arg) http://identifiers.org/clinvar/91797 ^@ NM_000059.3(BRCA2):c.3326delC (p.Ala1109Glufs) http://identifiers.org/clinvar/91798 ^@ NM_000059.3(BRCA2):c.3336delA (p.Glu1113Asnfs) http://identifiers.org/clinvar/91799 ^@ NM_000059.3(BRCA2):c.3401G>C (p.Ser1134Thr) http://identifiers.org/clinvar/91800 ^@ NM_000059.3(BRCA2):c.3407T>C (p.Ile1136Thr) http://identifiers.org/clinvar/91801 ^@ NM_000059.3(BRCA2):c.3414G>C (p.Gln1138His) http://identifiers.org/clinvar/91802 ^@ NM_000059.3(BRCA2):c.3518T>C (p.Ile1173Thr) http://identifiers.org/clinvar/91803 ^@ NM_000059.3(BRCA2):c.352C>T (p.Arg118Cys) http://identifiers.org/clinvar/91804 ^@ NM_000059.3(BRCA2):c.3668A>G (p.His1223Arg) http://identifiers.org/clinvar/91805 ^@ NM_000059.3(BRCA2):c.3708dupA (p.Ala1237Serfs) http://identifiers.org/clinvar/91806 ^@ NM_000059.3(BRCA2):c.3709G>C (p.Ala1237Pro) http://identifiers.org/clinvar/91807 ^@ NM_000059.3(BRCA2):c.3717A>C (p.Lys1239Asn) http://identifiers.org/clinvar/91808 ^@ NM_000059.3(BRCA2):c.3727G>A (p.Asp1243Asn) http://identifiers.org/clinvar/91809 ^@ NM_000059.3(BRCA2):c.3873delA (p.Gln1291Hisfs) http://identifiers.org/clinvar/91810 ^@ NM_000059.3(BRCA2):c.3949A>T (p.Thr1317Ser) http://identifiers.org/clinvar/91811 ^@ NM_000059.3(BRCA2):c.3995A>G (p.His1332Arg) http://identifiers.org/clinvar/91812 ^@ NM_000059.3(BRCA2):c.4000_4001delTT (p.Leu1334Argfs) http://identifiers.org/clinvar/91813 ^@ NM_000059.3(BRCA2):c.410_411ins8 http://identifiers.org/clinvar/91814 ^@ NM_000059.3(BRCA2):c.4178C>G (p.Ala1393Gly) http://identifiers.org/clinvar/91815 ^@ NM_000059.3(BRCA2):c.4211delC (p.Ser1404Terfs) http://identifiers.org/clinvar/91816 ^@ NM_000059.3(BRCA2):c.426-12_426-9del4 http://identifiers.org/clinvar/91817 ^@ NM_000059.3(BRCA2):c.426-2A>G http://identifiers.org/clinvar/91818 ^@ NM_000059.3(BRCA2):c.4274A>G (p.Asp1425Gly) http://identifiers.org/clinvar/91819 ^@ NM_000059.3(BRCA2):c.4294A>G (p.Ser1432Gly) http://identifiers.org/clinvar/91820 ^@ NM_000059.3(BRCA2):c.4325C>G (p.Ser1442Ter) http://identifiers.org/clinvar/91821 ^@ NM_000059.3(BRCA2):c.4477G>C (p.Glu1493Gln) http://identifiers.org/clinvar/91822 ^@ NM_000059.3(BRCA2):c.4552delG (p.Glu1518Asnfs) http://identifiers.org/clinvar/91824 ^@ NM_000059.3(BRCA2):c.4739G>A (p.Cys1580Tyr) http://identifiers.org/clinvar/91825 ^@ NM_000059.3(BRCA2):c.476-4C>T http://identifiers.org/clinvar/91826 ^@ NM_000059.3(BRCA2):c.4847T>G (p.Leu1616Ter) http://identifiers.org/clinvar/91827 ^@ NM_000059.3(BRCA2):c.489T>G (p.Ser163Arg) http://identifiers.org/clinvar/91828 ^@ NM_000059.3(BRCA2):c.48_50delGACins10 (p.?) http://identifiers.org/clinvar/91829 ^@ NM_000059.3(BRCA2):c.4906A>G (p.Lys1636Glu) http://identifiers.org/clinvar/91830 ^@ NM_000059.3(BRCA2):c.4964dupA (p.Tyr1655Terfs) http://identifiers.org/clinvar/91831 ^@ NM_000059.3(BRCA2):c.4990_4991delAT (p.Ile1664Terfs) http://identifiers.org/clinvar/91832 ^@ NM_000059.3(BRCA2):c.5054C>A (p.Ser1685Ter) http://identifiers.org/clinvar/91833 ^@ NM_000059.3(BRCA2):c.5125G>T (p.Asp1709Tyr) http://identifiers.org/clinvar/91834 ^@ NM_000059.3(BRCA2):c.512dupT (p.Lys172Glufs) http://identifiers.org/clinvar/91835 ^@ NM_000059.3(BRCA2):c.5155A>T (p.Asn1719Tyr) http://identifiers.org/clinvar/91837 ^@ NM_000059.3(BRCA2):c.517-12C>A http://identifiers.org/clinvar/91838 ^@ NM_000059.3(BRCA2):c.5201_5205delAAAAAins6 http://identifiers.org/clinvar/91839 ^@ NM_000059.3(BRCA2):c.5215delT (p.Tyr1739Ilefs) http://identifiers.org/clinvar/91840 ^@ NM_183356.3(ASNS):c.1084T>G (p.Phe362Val) http://identifiers.org/clinvar/91841 ^@ NM_133436.3(ASNS):c.1648C>T (p.Arg550Cys) http://identifiers.org/clinvar/91842 ^@ NM_133436.3(ASNS):c.17C>A (p.Ala6Glu) http://identifiers.org/clinvar/91843 ^@ NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp) http://identifiers.org/clinvar/91844 ^@ NM_001194998.1(CEP152):c.3149T>C (p.Leu1050Pro) http://identifiers.org/clinvar/192391 ^@ NM_001194998.1(CEP152):c.3149T>C (p.Leu1050Pro) http://identifiers.org/clinvar/91845 ^@ NM_024876.3(COQ8B):c.532C>T (p.Arg178Trp) http://identifiers.org/clinvar/91846 ^@ NM_024876.3(COQ8B):c.857A>G (p.Asp286Gly) http://identifiers.org/clinvar/91847 ^@ NM_024876.3(COQ8B):c.1447G>T (p.Glu483Ter) http://identifiers.org/clinvar/91848 ^@ NM_024876.3(COQ8B):c.958C>T (p.Arg320Trp) http://identifiers.org/clinvar/91849 ^@ NM_024876.3(COQ8B):c.1027C>T (p.Arg343Trp) http://identifiers.org/clinvar/91850 ^@ NM_024876.3(COQ8B):c.1199dupA (p.His400Glnfs) http://identifiers.org/clinvar/91851 ^@ NM_024876.3(COQ8B):c.1356_1362delGGGCCCT (p.Gln452Hisfs) http://identifiers.org/clinvar/91854 ^@ NM_001271723.1(FBXO38):c.616T>C (p.Cys206Arg) http://identifiers.org/clinvar/91860 ^@ NM_005762.2(TRIM28):c.1216+23C>T http://identifiers.org/clinvar/91861 ^@ NM_005221.5(DLX5):c.558G>T (p.Gln186His) http://identifiers.org/clinvar/91862 ^@ NM_003239.4(TGFB3):c.1226G>A (p.Cys409Tyr) http://identifiers.org/clinvar/91863 ^@ NM_014495.3(ANGPTL3):c.1198+1G>T http://identifiers.org/clinvar/91864 ^@ NM_014495.3(ANGPTL3):c.55delA (p.Ile19Leufs) http://identifiers.org/clinvar/91865 ^@ NM_014495.3(ANGPTL3):c.439_442delAACT (p.Asn147Terfs) http://identifiers.org/clinvar/91866 ^@ NM_014495.3(ANGPTL3):c.363_367delCTCAA (p.Asn121Lysfs) http://identifiers.org/clinvar/91867 ^@ NM_014495.3(ANGPTL3):c.883T>C (p.Phe295Leu) http://identifiers.org/clinvar/91870 ^@ NM_000036.2(AMPD1):c.1449C>G (p.Cys483Trp) http://identifiers.org/clinvar/91871 ^@ NM_000036.2(AMPD1):c.1498C>T (p.Arg500Cys) http://identifiers.org/clinvar/91872 ^@ NM_000036.2(AMPD1):c.1569C>T (p.Thr523=) http://identifiers.org/clinvar/91873 ^@ NM_000036.2(AMPD1):c.1714C>T (p.Pro572Ser) http://identifiers.org/clinvar/91874 ^@ NM_000036.2(AMPD1):c.1877C>G (p.Ser626Cys) http://identifiers.org/clinvar/91875 ^@ NM_000036.2(AMPD1):c.2042C>T (p.Thr681Ile) http://identifiers.org/clinvar/91876 ^@ NM_000036.2(AMPD1):c.31C>G (p.Gln11Glu) http://identifiers.org/clinvar/91877 ^@ NM_000036.2(AMPD1):c.606T>G (p.Ile202Met) http://identifiers.org/clinvar/91878 ^@ NM_000036.2(AMPD1):c.608A>T (p.Asp203Val) http://identifiers.org/clinvar/91879 ^@ NM_000036.2(AMPD1):c.639C>T (p.Phe213=) http://identifiers.org/clinvar/91880 ^@ NM_000036.2(AMPD1):c.702T>A (p.Pro234=) http://identifiers.org/clinvar/91881 ^@ NM_000036.2(AMPD1):c.70G>A (p.Ala24Thr) http://identifiers.org/clinvar/91882 ^@ NM_000036.2(AMPD1):c.826G>A (p.Asp276Asn) http://identifiers.org/clinvar/91896 ^@ NM_206933.2(USH2A):c.3649G>A (p.Asp1217Asn) http://identifiers.org/clinvar/91898 ^@ NM_005235.2(ERBB4):c.1354G>A (p.Glu452Lys) http://identifiers.org/clinvar/91905 ^@ NM_000281.3(PCBD1):c.46delC (p.Leu16Cysfs) http://identifiers.org/clinvar/91906 ^@ NM_000281.3(PCBD1):c.213_215delCAA (p.Asn71del) http://identifiers.org/clinvar/91907 ^@ NM_000281.3(PCBD1):c.289G>A (p.Glu97Lys) http://identifiers.org/clinvar/91908 ^@ NM_000693.3(ALDH1A3):c.211G>A (p.Val71Met) http://identifiers.org/clinvar/91909 ^@ NM_000289.5(PFKM):c.2137A>G (p.Met713Val) http://identifiers.org/clinvar/91910 ^@ NM_000364.3(TNNT2):c.245C>A (p.Pro82His) http://identifiers.org/clinvar/91911 ^@ NM_000384.2(APOB):c.5562C>A (p.Asp1854Glu) http://identifiers.org/clinvar/91912 ^@ NM_000489.4(ATRX):c.6631G>T (p.Glu2211Ter) http://identifiers.org/clinvar/91913 ^@ NM_000780.3(CYP7A1):c.907A>T (p.Arg303Trp) http://identifiers.org/clinvar/91914 ^@ NM_000856.5(GUCY1A3):c.69T>A (p.Gly23=) http://identifiers.org/clinvar/91915 ^@ NM_000890.3(KCNJ5):c.451G>A (p.Gly151Arg) http://identifiers.org/clinvar/91916 ^@ NM_000890.3(KCNJ5):c.451G>C (p.Gly151Arg) http://identifiers.org/clinvar/91917 ^@ NM_000890.3(KCNJ5):c.503T>G (p.Leu168Arg) http://identifiers.org/clinvar/91918 ^@ NM_001002001.2(GMPR2):c.812C>T (p.Ser271Phe) http://identifiers.org/clinvar/91919 ^@ NM_001002800.2(SMC4):c.3849A>T (p.Ala1283=) http://identifiers.org/clinvar/91920 ^@ NM_001004317.3(LIN28B):c.5C>A (p.Ala2Asp) http://identifiers.org/clinvar/91921 ^@ NM_001004476.1(OR10K2):c.157A>G (p.Arg53Gly) http://identifiers.org/clinvar/91922 ^@ NM_001004706.1(OR4D11):c.575C>A (p.Thr192Asn) http://identifiers.org/clinvar/91923 ^@ NM_001005211.1(OR9I1):c.218A>G (p.Tyr73Cys) http://identifiers.org/clinvar/91924 ^@ NM_001014794.2(ILK):c.1020C>T (p.Val340=) http://identifiers.org/clinvar/91925 ^@ NM_001039362.1(ATP6V1C2):c.847A>G (p.Lys283Glu) http://identifiers.org/clinvar/91926 ^@ NM_001040202.1(PAQR3):c.650C>G (p.Pro217Arg) http://identifiers.org/clinvar/91927 ^@ NM_001082968.1(TOM1L2):c.144G>T (p.Lys48Asn) http://identifiers.org/clinvar/91928 ^@ NM_001083335.1(ZNF112):c.1387A>G (p.Ile463Val) http://identifiers.org/clinvar/91929 ^@ NM_001113226.2(NTNG1):c.689C>T (p.Ala230Val) http://identifiers.org/clinvar/91930 ^@ NM_001128840.2(CACNA1D):c.1207G>C (p.Gly403Arg) http://identifiers.org/clinvar/91931 ^@ NM_001130955.1(ARHGEF18):c.1409C>A (p.Ala470Glu) http://identifiers.org/clinvar/91932 ^@ NM_001135647.1(FAM53C):c.490C>T (p.Pro164Ser) http://identifiers.org/clinvar/91933 ^@ NM_001146054.1(SNCA):c.251G>T (p.Gly84Val) http://identifiers.org/clinvar/91934 ^@ NM_001277075.1(ZNF541):c.1608G>A (p.Pro536=) http://identifiers.org/clinvar/91935 ^@ NM_001486.3(GCKR):c.1368C>T (p.Ile456=) http://identifiers.org/clinvar/91936 ^@ NM_001509.2(GPX5):c.28C>T (p.Leu10=) http://identifiers.org/clinvar/91937 ^@ NM_001883.4(CRHR2):c.915C>T (p.Tyr305=) http://identifiers.org/clinvar/91938 ^@ NM_002061.3(GCLM):c.748T>G (p.Tyr250Asp) http://identifiers.org/clinvar/91939 ^@ NM_002067.4(GNA11):c.943G>A (p.Asp315Asn) http://identifiers.org/clinvar/91940 ^@ NM_002087.3(GRN):c.1626C>T (p.Ala542=) http://identifiers.org/clinvar/91941 ^@ NM_002387.2(MCC):c.2381T>C (p.Met794Thr) http://identifiers.org/clinvar/91942 ^@ NM_002606.2(PDE9A):c.1085+1G>A http://identifiers.org/clinvar/91943 ^@ NM_002637.3(PHKA1):c.79A>C (p.Asn27His) http://identifiers.org/clinvar/91944 ^@ NM_002663.4(PLD2):c.1657C>T (p.Arg553Trp) http://identifiers.org/clinvar/91945 ^@ NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) http://identifiers.org/clinvar/91946 ^@ NM_002852.3(PTX3):c.108T>C (p.Asn36=) http://identifiers.org/clinvar/91947 ^@ NM_003258.4(TK1):c.596G>T (p.Gly199Val) http://identifiers.org/clinvar/91948 ^@ NM_003274.4(TRAPPC10):c.2929A>G (p.Ser977Gly) http://identifiers.org/clinvar/91949 ^@ NM_003399.5(XPNPEP2):c.399G>A (p.Lys133=) http://identifiers.org/clinvar/91950 ^@ NM_003403.4(YY1):c.1115C>G (p.Thr372Arg) http://identifiers.org/clinvar/91951 ^@ NM_003408.2(ZFP37):c.19G>C (p.Val7Leu) http://identifiers.org/clinvar/91952 ^@ NM_003610.3(RAE1):c.408C>G (p.Ile136Met) http://identifiers.org/clinvar/91953 ^@ NM_003682.3(MADD):c.3400G>A (p.Ala1134Thr) http://identifiers.org/clinvar/91954 ^@ NM_003820.3(TNFRSF14):c.558C>G (p.Ser186Arg) http://identifiers.org/clinvar/91955 ^@ NM_003895.3(SYNJ1):c.3752C>A (p.Ala1251Glu) http://identifiers.org/clinvar/91956 ^@ NM_003966.2(SEMA5A):c.2928G>C (p.Leu976=) http://identifiers.org/clinvar/91957 ^@ NM_003995.3(NPR2):c.3048G>T (p.Gln1016His) http://identifiers.org/clinvar/91958 ^@ NM_004120.4(GBP2):c.321T>G (p.Gly107=) http://identifiers.org/clinvar/91959 ^@ NM_004187.3(KDM5C):c.4231G>A (p.Val1411Met) http://identifiers.org/clinvar/91960 ^@ NM_004747.3(DLG5):c.5486A>C (p.His1829Pro) http://identifiers.org/clinvar/91961 ^@ NM_005060.3(RORC):c.422C>T (p.Ala141Val) http://identifiers.org/clinvar/91962 ^@ NM_005241.3(MECOM):c.2750T>C (p.Val917Ala) http://identifiers.org/clinvar/91963 ^@ NM_005329.2(HAS3):c.141G>T (p.Leu47=) http://identifiers.org/clinvar/91964 ^@ NM_005419.3(STAT2):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/91965 ^@ NM_005422.2(TECTA):c.2925G>T (p.Arg975=) http://identifiers.org/clinvar/91966 ^@ NM_005559.3(LAMA1):c.2488A>C (p.Arg830=) http://identifiers.org/clinvar/91967 ^@ NM_005688.3(ABCC5):c.1925A>G (p.Asn642Ser) http://identifiers.org/clinvar/91968 ^@ NM_005709.3(USH1C):c.569C>T (p.Ser190Leu) http://identifiers.org/clinvar/91969 ^@ NM_005760.2(CEBPZ):c.639T>G (p.Tyr213Ter) http://identifiers.org/clinvar/91970 ^@ NM_006309.3(LRRFIP2):c.90+1G>C http://identifiers.org/clinvar/91971 ^@ NM_006927.3(ST3GAL2):c.341T>C (p.Met114Thr) http://identifiers.org/clinvar/91972 ^@ NM_006978.2(RNF113A):c.247T>A (p.Leu83Met) http://identifiers.org/clinvar/91973 ^@ NM_007237.4(SP140):c.1550A>C (p.Asn517Thr) http://identifiers.org/clinvar/91974 ^@ NM_007314.3(ABL2):c.2085A>G (p.Leu695=) http://identifiers.org/clinvar/91975 ^@ NM_012193.3(FZD4):c.362G>T (p.Cys121Phe) http://identifiers.org/clinvar/91976 ^@ NM_012330.3(KAT6B):c.2486T>A (p.Leu829His) http://identifiers.org/clinvar/91977 ^@ NM_012363.1(OR1N1):c.853C>A (p.Pro285Thr) http://identifiers.org/clinvar/91978 ^@ NM_013292.4(MYLPF):c.431C>A (p.Pro144His) http://identifiers.org/clinvar/91979 ^@ NM_014164.5(FXYD5):c.280A>G (p.Ser94Gly) http://identifiers.org/clinvar/91980 ^@ NM_014611.2(MDN1):c.818T>C (p.Val273Ala) http://identifiers.org/clinvar/91981 ^@ NM_014637.3(MTFR1):c.244G>T (p.Val82Leu) http://identifiers.org/clinvar/91982 ^@ NM_014918.4(CHSY1):c.731G>A (p.Arg244Gln) http://identifiers.org/clinvar/91983 ^@ NM_014945.4(ABLIM3):c.1584G>A (p.Lys528=) http://identifiers.org/clinvar/91984 ^@ NM_014945.4(ABLIM3):c.1665G>A (p.Leu555=) http://identifiers.org/clinvar/91985 ^@ NM_015035.3(ZHX3):c.496G>T (p.Gly166Cys) http://identifiers.org/clinvar/91986 ^@ NM_015057.4(MYCBP2):c.13840A>G (p.Thr4614Ala) http://identifiers.org/clinvar/91987 ^@ NM_015073.2(SIPA1L3):c.4035C>G (p.Gly1345=) http://identifiers.org/clinvar/91988 ^@ NM_015107.2(PHF8):c.1142-1G>A http://identifiers.org/clinvar/91989 ^@ NM_015198.4(COBL):c.215G>T (p.Gly72Val) http://identifiers.org/clinvar/91990 ^@ NM_015238.2(WWC1):c.1906G>A (p.Ala636Thr) http://identifiers.org/clinvar/91991 ^@ NM_015448.2(DPCD):c.11C>T (p.Thr4Met) http://identifiers.org/clinvar/91992 ^@ NM_016279.3(CDH9):c.2202G>A (p.Ser734=) http://identifiers.org/clinvar/91993 ^@ NM_016423.2(ZNF219):c.60C>T (p.Phe20=) http://identifiers.org/clinvar/91994 ^@ NM_017533.2(MYH4):c.4849A>G (p.Arg1617Gly) http://identifiers.org/clinvar/91995 ^@ NM_017639.3(DCHS2):c.137A>G (p.Gln46Arg) http://identifiers.org/clinvar/91996 ^@ NM_017662.4(TRPM6):c.2392-2A>G http://identifiers.org/clinvar/91997 ^@ NM_017677.3(MTMR8):c.1493G>A (p.Gly498Glu) http://identifiers.org/clinvar/91998 ^@ NM_018061.2(PRPF38B):c.1463G>A (p.Arg488Gln) http://identifiers.org/clinvar/91999 ^@ NM_018404.2(ADAP2):c.1105C>T (p.Arg369Trp) http://identifiers.org/clinvar/92000 ^@ NM_018451.4(CENPJ):c.669C>A (p.Tyr223Ter) http://identifiers.org/clinvar/92001 ^@ NM_018898.3(PCDHAC1):c.2396G>A (p.Arg799Gln) http://identifiers.org/clinvar/92002 ^@ NM_018905.2(PCDHA2):c.1010C>A (p.Ser337Ter) http://identifiers.org/clinvar/92003 ^@ NM_018906.2(PCDHA3):c.1930C>T (p.Arg644Cys) http://identifiers.org/clinvar/92004 ^@ NM_018928.2(PCDHGC4):c.462G>A (p.Leu154=) http://identifiers.org/clinvar/92005 ^@ NM_020041.2(SLC2A9):c.1240C>T (p.Leu414=) http://identifiers.org/clinvar/92006 ^@ NM_020546.2(ADCY2):c.489C>G (p.Val163=) http://identifiers.org/clinvar/92007 ^@ NM_020706.2(SCAF4):c.1518C>T (p.Cys506=) http://identifiers.org/clinvar/92008 ^@ NM_020801.3(ARRDC3):c.1022A>G (p.Glu341Gly) http://identifiers.org/clinvar/92009 ^@ NM_020854.3(KIAA1468):c.1735C>A (p.Gln579Lys) http://identifiers.org/clinvar/92010 ^@ NM_021072.3(HCN1):c.528T>C (p.Ile176=) http://identifiers.org/clinvar/92011 ^@ NM_022089.3(ATP13A2):c.237C>G (p.Pro79=) http://identifiers.org/clinvar/92012 ^@ NM_022744.3(C16orf58):c.831C>G (p.Arg277=) http://identifiers.org/clinvar/92013 ^@ NM_024662.2(NAT10):c.2424G>C (p.Leu808=) http://identifiers.org/clinvar/92014 ^@ NM_025004.2(CCDC15):c.901-1G>C http://identifiers.org/clinvar/92015 ^@ NM_025027.4(ZNF606):c.2099G>C (p.Arg700Thr) http://identifiers.org/clinvar/92016 ^@ NM_030912.2(TRIM8):c.1561G>T (p.Val521Phe) http://identifiers.org/clinvar/92017 ^@ NM_032230.2(METTL25):c.208G>A (p.Glu70Lys) http://identifiers.org/clinvar/92018 ^@ NM_032438.3(L3MBTL3):c.1525T>C (p.Phe509Leu) http://identifiers.org/clinvar/92019 ^@ NM_032496.3(ARHGAP9):c.409C>T (p.Arg137Cys) http://identifiers.org/clinvar/92020 ^@ NM_052942.3(GBP5):c.1745C>T (p.Pro582Leu) http://identifiers.org/clinvar/92021 ^@ NM_052966.3(FAM129A):c.2201C>T (p.Thr734Met) http://identifiers.org/clinvar/92022 ^@ NM_053276.3(VIT):c.1031G>T (p.Gly344Val) http://identifiers.org/clinvar/92023 ^@ NM_054021.1(GPR101):c.1156A>C (p.Asn386His) http://identifiers.org/clinvar/92024 ^@ NM_080739.2(C20orf141):c.265G>A (p.Ala89Thr) http://identifiers.org/clinvar/92025 ^@ NM_133448.2(TMEM132D):c.315G>T (p.Val105=) http://identifiers.org/clinvar/92026 ^@ NM_138389.3(FAM114A1):c.704G>C (p.Gly235Ala) http://identifiers.org/clinvar/92027 ^@ NM_144612.6(LOXHD1):c.2813G>A (p.Arg938Lys) http://identifiers.org/clinvar/92028 ^@ NM_145028.4(ARMC12):c.191C>T (p.Ala64Val) http://identifiers.org/clinvar/92029 ^@ NM_145898.3(CCL23):c.181C>T (p.Arg61Ter) http://identifiers.org/clinvar/92030 ^@ NM_152281.2(GORAB):c.1166C>G (p.Ser389Ter) http://identifiers.org/clinvar/92031 ^@ NM_152879.2(DGKD):c.472G>A (p.Asp158Asn) http://identifiers.org/clinvar/92032 ^@ NM_153838.4(ADGRF4):c.1423G>T (p.Ala475Ser) http://identifiers.org/clinvar/92033 ^@ NM_170665.3(ATP2A2):c.131A>G (p.Glu44Gly) http://identifiers.org/clinvar/92034 ^@ NM_172312.1(SPAG8):c.618C>T (p.Asp206=) http://identifiers.org/clinvar/92035 ^@ NM_173533.3(TDRD5):c.527T>C (p.Phe176Ser) http://identifiers.org/clinvar/92036 ^@ NM_194293.2(XIRP1):c.1955C>A (p.Pro652Gln) http://identifiers.org/clinvar/92037 ^@ NM_194300.4(CCDC129):c.419G>A (p.Trp140Ter) http://identifiers.org/clinvar/92038 ^@ NM_198489.2(CCDC84):c.815A>G (p.Gln272Arg) http://identifiers.org/clinvar/92039 ^@ NM_199180.3(KIRREL2):c.343G>A (p.Ala115Thr) http://identifiers.org/clinvar/92040 ^@ NM_203290.3(POLR1C):c.882G>T (p.Lys294Asn) http://identifiers.org/clinvar/92041 ^@ NM_207354.2(ANKRD13D):c.251G>T (p.Gly84Val) http://identifiers.org/clinvar/92042 ^@ NM_213594.2(RFX4):c.175C>T (p.Pro59Ser) http://identifiers.org/clinvar/92043 ^@ NM_001166419.1(HDAC8):c.356C>T (p.Thr119Met) http://identifiers.org/clinvar/92044 ^@ NM_002501.3(NFIX):c.716C>G (p.Ser239Ter) http://identifiers.org/clinvar/92045 ^@ NM_032813.3(TMTC4):c.1192C>T (p.His398Tyr) http://identifiers.org/clinvar/92095 ^@ NM_001271.3(CHD2):c.4971G>A (p.Trp1657Ter) http://identifiers.org/clinvar/92096 ^@ NM_001271.3(CHD2):c.1810-2A>C http://identifiers.org/clinvar/92097 ^@ NM_001271.3(CHD2):c.1396C>T (p.Arg466Ter) http://identifiers.org/clinvar/92098 ^@ NM_213649.1(SFXN4):c.233delC (p.Pro78Leufs) http://identifiers.org/clinvar/92099 ^@ NM_213649.1(SFXN4):c.739dupA (p.Arg247Lysfs) http://identifiers.org/clinvar/92100 ^@ NM_213649.1(SFXN4):c.471+1G>A http://identifiers.org/clinvar/92110 ^@ NM_014251.2(SLC25A13):c.1064G>A (p.Arg355Gln) http://identifiers.org/clinvar/92111 ^@ NM_001289123.1(TUBB4A):c.964G>A (p.Ala322Thr) http://identifiers.org/clinvar/92112 ^@ NM_078480.2(PUF60):c.505C>T (p.His169Tyr) http://identifiers.org/clinvar/92113 ^@ NM_007175.6(ERLIN2):c.499-1G>T http://identifiers.org/clinvar/92120 ^@ NM_001737.4(C9):c.499C>T (p.Pro167Ser) http://identifiers.org/clinvar/92121 ^@ NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) http://identifiers.org/clinvar/92122 ^@ NM_021946.4(BCORL1):c.2459A>G (p.Asn820Ser) http://identifiers.org/clinvar/92123 ^@ NM_003906.4(MCM3AP):c.2743G>A (p.Glu915Lys) http://identifiers.org/clinvar/242649 ^@ NM_033071.3(SYNE1):c.9283G>A (p.Ala3095Thr) http://identifiers.org/clinvar/130417 ^@ NM_033071.3(SYNE1):c.1985A>G (p.Gln662Arg) http://identifiers.org/clinvar/92125 ^@ NM_033071.3(SYNE1):c.11630T>C (p.Leu3877Ser) http://identifiers.org/clinvar/92126 ^@ NM_024915.3(GRHL2):c.1258-1G>A http://identifiers.org/clinvar/92127 ^@ NM_133170.3(PTPRT):c.4094C>T (p.Thr1365Met) http://identifiers.org/clinvar/92129 ^@ NM_014846.3(WASHC5):c.3335+2T>A http://identifiers.org/clinvar/92162 ^@ NM_000064.3(C3):c.463A>C (p.Lys155Gln) http://identifiers.org/clinvar/92163 ^@ ADAM10, GLN170HIS http://identifiers.org/clinvar/92164 ^@ NM_001110.3(ADAM10):c.541A>G (p.Arg181Gly) http://identifiers.org/clinvar/92165 ^@ NM_020822.2(KCNT1):c.2794T>A (p.Phe932Ile) http://identifiers.org/clinvar/92166 ^@ NM_020944.2(GBA2):c.1780G>C (p.Asp594His) http://identifiers.org/clinvar/92187 ^@ NM_000296.3(PKD1):c.12170T>G (p.Val4057Gly) http://identifiers.org/clinvar/92188 ^@ NM_000296.3(PKD1):c.5657C>T (p.Pro1886Leu) http://identifiers.org/clinvar/92189 ^@ NM_000296.3(PKD1):c.5836C>A (p.His1946Asn) http://identifiers.org/clinvar/92190 ^@ NM_015120.4(ALMS1):c.1794_1801dupGGCTTTGA (p.Lys601Argfs) http://identifiers.org/clinvar/92191 ^@ NM_015120.4(ALMS1):c.11116_11134del19 (p.Arg3706Leufs) http://identifiers.org/clinvar/92192 ^@ NM_015120.4(ALMS1):c.4296_4299delCACA (p.His1432Glnfs) http://identifiers.org/clinvar/92193 ^@ NM_015120.4(ALMS1):c.5926delG (p.Glu1976Serfs) http://identifiers.org/clinvar/92194 ^@ NM_000062.2(SERPING1):c.686-9T>C http://identifiers.org/clinvar/92195 ^@ NM_000062.2(SERPING1):c.51G>A (p.Gly17=) http://identifiers.org/clinvar/92196 ^@ NM_000062.2(SERPING1):c.685+88G>A http://identifiers.org/clinvar/92197 ^@ NM_005120.2(MED12):c.100-1_139del41 http://identifiers.org/clinvar/92198 ^@ NM_005120.2(MED12):c.100-2_141del44insAG http://identifiers.org/clinvar/92199 ^@ NM_005120.2(MED12):c.100-8T>A http://identifiers.org/clinvar/92200 ^@ NM_005120.2(MED12):c.103_138del36 (p.Glu35_Asn46del) http://identifiers.org/clinvar/92201 ^@ NM_005120.2(MED12):c.107T>G (p.Leu36Arg) http://identifiers.org/clinvar/92202 ^@ NM_005120.2(MED12):c.107_111delTGACGinsGC (p.Leu36_Thr37delinsArg) http://identifiers.org/clinvar/92203 ^@ NM_005120.2(MED12):c.111_155del45 (p.Ala38_Ser52del) http://identifiers.org/clinvar/92204 ^@ NM_005120.2(MED12):c.113_121delCCTTGAATG (p.Ala38_Asn40del) http://identifiers.org/clinvar/92205 ^@ NM_005120.2(MED12):c.117_122delGAATGT (p.Asn40_Val41del) http://identifiers.org/clinvar/92206 ^@ NM_005120.2(MED12):c.118_132delAATGTAAAACAAGGT (p.Asn40_Gly44del) http://identifiers.org/clinvar/92207 ^@ NM_005120.2(MED12):c.118_134del17insTA (p.Asn40_Phe45delinsTyr) http://identifiers.org/clinvar/92208 ^@ NM_005120.2(MED12):c.118_146del29insTT (p.Asn40_Pro49delinsPhe) http://identifiers.org/clinvar/92209 ^@ NM_005120.2(MED12):c.122_148del27 (p.Val41_Pro49del) http://identifiers.org/clinvar/92210 ^@ NM_005120.2(MED12):c.122_163del42 (p.Val41_Asp54del) http://identifiers.org/clinvar/92211 ^@ NM_005120.2(MED12):c.123_152del30 (p.Lys42_Val51del) http://identifiers.org/clinvar/92212 ^@ NM_005120.2(MED12):c.126_131delACAAGG (p.Lys42_Gly44delinsAsn) http://identifiers.org/clinvar/92213 ^@ NM_005120.2(MED12):c.126_140delACAAGGTTTCAATAA (p.Lys42_Asn46del) http://identifiers.org/clinvar/92214 ^@ NM_005120.2(MED12):c.128A>C (p.Gln43Pro) http://identifiers.org/clinvar/92215 ^@ NM_005120.2(MED12):c.129_137delAGGTTTCAA (p.Gln43_Asn46delinsHis) http://identifiers.org/clinvar/92216 ^@ NM_005120.2(MED12):c.129_143delAGGTTTCAATAACCA (p.Gly44_Gln48del) http://identifiers.org/clinvar/92217 ^@ NM_005120.2(MED12):c.130G>A (p.Gly44Ser) http://identifiers.org/clinvar/92218 ^@ NM_005120.2(MED12):c.130G>C (p.Gly44Arg) http://identifiers.org/clinvar/92219 ^@ NM_005120.2(MED12):c.130G>T (p.Gly44Cys) http://identifiers.org/clinvar/92220 ^@ NM_005120.2(MED12):c.131G>A (p.Gly44Asp) http://identifiers.org/clinvar/92221 ^@ NM_005120.2(MED12):c.131G>C (p.Gly44Ala) http://identifiers.org/clinvar/92222 ^@ NM_005120.2(MED12):c.131G>T (p.Gly44Val) http://identifiers.org/clinvar/92223 ^@ NM_005120.2(MED12):c.133_144delTTCAATAACCAG (p.Phe45_Gln48del) http://identifiers.org/clinvar/92224 ^@ NM_005120.2(MED12):c.149_163delCTGTCTCTGGGGATG (p.Ala50_Asp54del) http://identifiers.org/clinvar/92225 ^@ NM_000133.3(F9):c.278-3A>G http://identifiers.org/clinvar/92240 ^@ NM_015120.4(ALMS1):c.1900C>T (p.Gln634Ter) http://identifiers.org/clinvar/92241 ^@ NM_145262.3(GLYCTK):c.1448delT (p.Phe483Serfs) http://identifiers.org/clinvar/92242 ^@ NM_145262.3(GLYCTK):c.1558delC (p.Leu520Cysfs) http://identifiers.org/clinvar/92243 ^@ NM_000367.4(TPMT):c.648T>A (p.Cys216Ter) http://identifiers.org/clinvar/92246 ^@ NM_001710.5(CFB):c.766C>T (p.Gln256Ter) http://identifiers.org/clinvar/92247 ^@ NM_001710.5(CFB):c.1894_1897delTTTG (p.Phe632Cysfs) http://identifiers.org/clinvar/92249 ^@ NM_003184.3(TAF2):c.1945T>C (p.Trp649Arg) http://identifiers.org/clinvar/92250 ^@ NM_003184.3(TAF2):c.1247C>A (p.Pro416His) http://identifiers.org/clinvar/92251 ^@ NM_003184.3(TAF2):c.557C>G (p.Thr186Arg) http://identifiers.org/clinvar/92252 ^@ NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) http://identifiers.org/clinvar/92253 ^@ NM_000016.5(ACADM):c.1091T>C (p.Ile364Thr) http://identifiers.org/clinvar/92254 ^@ NM_000016.5(ACADM):c.1161A>G (p.Val387=) http://identifiers.org/clinvar/92255 ^@ NM_000016.5(ACADM):c.118G>C (p.Glu40Gln) http://identifiers.org/clinvar/92256 ^@ NM_000016.5(ACADM):c.119-20T>C http://identifiers.org/clinvar/92257 ^@ NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) http://identifiers.org/clinvar/92258 ^@ NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) http://identifiers.org/clinvar/92259 ^@ NM_000016.5(ACADM):c.216+10T>C http://identifiers.org/clinvar/92260 ^@ NM_000016.5(ACADM):c.216+2T>G http://identifiers.org/clinvar/92261 ^@ NM_000016.5(ACADM):c.233T>C (p.Ile78Thr) http://identifiers.org/clinvar/92262 ^@ NM_000016.5(ACADM):c.253G>A (p.Gly85Ser) http://identifiers.org/clinvar/92263 ^@ NM_000016.5(ACADM):c.351A>C (p.Thr117=) http://identifiers.org/clinvar/92264 ^@ NM_000016.5(ACADM):c.388-12_388-10delTTT http://identifiers.org/clinvar/92265 ^@ NM_000016.5(ACADM):c.468+7A>T http://identifiers.org/clinvar/92266 ^@ NM_000016.5(ACADM):c.489T>G (p.Pro163=) http://identifiers.org/clinvar/92267 ^@ NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) http://identifiers.org/clinvar/92268 ^@ NM_000016.5(ACADM):c.617G>A (p.Arg206His) http://identifiers.org/clinvar/92269 ^@ NM_000018.3(ACADVL):c.*8delC http://identifiers.org/clinvar/92270 ^@ NM_000018.3(ACADVL):c.1001T>G (p.Met334Arg) http://identifiers.org/clinvar/92271 ^@ NM_000018.3(ACADVL):c.1106T>C (p.Phe369Ser) http://identifiers.org/clinvar/92273 ^@ NM_000018.3(ACADVL):c.1273G>A (p.Ala425Thr) http://identifiers.org/clinvar/92274 ^@ NM_000018.3(ACADVL):c.1345G>C (p.Glu449Gln) http://identifiers.org/clinvar/92275 ^@ NM_000018.3(ACADVL):c.1389dupG (p.Thr464Aspfs) http://identifiers.org/clinvar/92276 ^@ NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln) http://identifiers.org/clinvar/92277 ^@ NM_000018.3(ACADVL):c.1605+6T>C http://identifiers.org/clinvar/92278 ^@ NM_000018.3(ACADVL):c.1700G>A (p.Arg567Gln) http://identifiers.org/clinvar/92279 ^@ NM_000018.3(ACADVL):c.1711G>A (p.Gly571Arg) http://identifiers.org/clinvar/92280 ^@ NM_000018.3(ACADVL):c.1733T>C (p.Met578Thr) http://identifiers.org/clinvar/92281 ^@ NM_000018.3(ACADVL):c.1825G>A (p.Glu609Lys) http://identifiers.org/clinvar/92282 ^@ NM_000018.3(ACADVL):c.271C>T (p.Pro91Ser) http://identifiers.org/clinvar/92283 ^@ NM_000018.3(ACADVL):c.425T>C (p.Phe142Ser) http://identifiers.org/clinvar/92284 ^@ NM_000018.3(ACADVL):c.436G>C (p.Val146Leu) http://identifiers.org/clinvar/92285 ^@ NM_000018.3(ACADVL):c.495G>T (p.Glu165Asp) http://identifiers.org/clinvar/92286 ^@ NM_000018.3(ACADVL):c.520G>A (p.Val174Met) http://identifiers.org/clinvar/92287 ^@ NM_000018.3(ACADVL):c.605T>A (p.Leu202His) http://identifiers.org/clinvar/92288 ^@ NM_000018.3(ACADVL):c.605T>C (p.Leu202Pro) http://identifiers.org/clinvar/92289 ^@ NM_000018.3(ACADVL):c.664G>A (p.Gly222Arg) http://identifiers.org/clinvar/92290 ^@ NM_000018.3(ACADVL):c.753-2A>C http://identifiers.org/clinvar/92291 ^@ NM_000018.3(ACADVL):c.787G>A (p.Ala263Thr) http://identifiers.org/clinvar/92292 ^@ NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del) http://identifiers.org/clinvar/92293 ^@ NM_000018.3(ACADVL):c.950T>C (p.Val317Ala) http://identifiers.org/clinvar/92294 ^@ NM_000019.3(ACAT1):c.-9T>A http://identifiers.org/clinvar/92295 ^@ NM_000019.3(ACAT1):c.13G>C (p.Ala5Pro) http://identifiers.org/clinvar/92296 ^@ NM_000019.3(ACAT1):c.471C>A (p.Ser157=) http://identifiers.org/clinvar/92297 ^@ NM_000019.3(ACAT1):c.472A>G (p.Asn158Asp) http://identifiers.org/clinvar/92298 ^@ NM_000019.3(ACAT1):c.730+2T>C http://identifiers.org/clinvar/92299 ^@ NM_000019.3(ACAT1):c.905delA (p.Lys302Argfs) http://identifiers.org/clinvar/92300 ^@ NM_000019.3(ACAT1):c.91C>T (p.Arg31Trp) http://identifiers.org/clinvar/92301 ^@ NM_000023.3(SGCA):c.101G>A (p.Arg34His) http://identifiers.org/clinvar/92302 ^@ NM_000023.3(SGCA):c.241C>T (p.Arg81Cys) http://identifiers.org/clinvar/92303 ^@ NM_000023.3(SGCA):c.328C>T (p.Arg110Trp) http://identifiers.org/clinvar/92304 ^@ NM_000023.3(SGCA):c.716A>G (p.His239Arg) http://identifiers.org/clinvar/92305 ^@ NM_000026.3(ADSL):c.1112G>A (p.Arg371Gln) http://identifiers.org/clinvar/92306 ^@ NM_000026.3(ADSL):c.735A>T (p.Arg245=) http://identifiers.org/clinvar/92307 ^@ NM_000027.3(AGA):c.281+13T>G http://identifiers.org/clinvar/92308 ^@ NM_000027.3(AGA):c.446C>G (p.Thr149Ser) http://identifiers.org/clinvar/92309 ^@ NM_000027.3(AGA):c.538G>A (p.Gly180Arg) http://identifiers.org/clinvar/92310 ^@ NM_000027.3(AGA):c.793C>T (p.Arg265Cys) http://identifiers.org/clinvar/92311 ^@ NM_000030.2(AGXT):c.557C>T (p.Ala186Val) http://identifiers.org/clinvar/92312 ^@ NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) http://identifiers.org/clinvar/92313 ^@ NM_000033.3(ABCD1):c.*8G>C http://identifiers.org/clinvar/92314 ^@ NM_000033.3(ABCD1):c.1396C>T (p.Gln466Ter) http://identifiers.org/clinvar/92315 ^@ NM_000033.3(ABCD1):c.1489-6delC http://identifiers.org/clinvar/92316 ^@ NM_000033.3(ABCD1):c.1548G>A (p.Leu516=) http://identifiers.org/clinvar/92317 ^@ NM_000033.3(ABCD1):c.1553G>A (p.Arg518Gln) http://identifiers.org/clinvar/92318 ^@ NM_000033.3(ABCD1):c.1586G>A (p.Gly529Asp) http://identifiers.org/clinvar/92319 ^@ NM_000033.3(ABCD1):c.1660C>A (p.Arg554Ser) http://identifiers.org/clinvar/92320 ^@ NM_000033.3(ABCD1):c.1679C>T (p.Pro560Leu) http://identifiers.org/clinvar/92321 ^@ NM_000033.3(ABCD1):c.1771C>T (p.Arg591Trp) http://identifiers.org/clinvar/92322 ^@ NM_000033.3(ABCD1):c.1802G>A (p.Trp601Ter) http://identifiers.org/clinvar/92323 ^@ NM_000033.3(ABCD1):c.1866-10G>A http://identifiers.org/clinvar/92324 ^@ NM_000033.3(ABCD1):c.31_46del16 (p.Arg11Serfs) http://identifiers.org/clinvar/92325 ^@ NM_000033.3(ABCD1):c.346G>A (p.Gly116Arg) http://identifiers.org/clinvar/92326 ^@ NM_000033.3(ABCD1):c.406C>T (p.Gln136Ter) http://identifiers.org/clinvar/92327 ^@ NM_000033.3(ABCD1):c.498_520del23 (p.Val167Leufs) http://identifiers.org/clinvar/92328 ^@ NM_000033.3(ABCD1):c.614C>A (p.Ala205Glu) http://identifiers.org/clinvar/92329 ^@ NM_000033.3(ABCD1):c.901-16C>T http://identifiers.org/clinvar/92330 ^@ NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) http://identifiers.org/clinvar/92331 ^@ NM_000036.2(AMPD1):c.1323+8G>A http://identifiers.org/clinvar/92332 ^@ NM_000036.2(AMPD1):c.134-7_134-4delCTTT http://identifiers.org/clinvar/92333 ^@ NM_000036.2(AMPD1):c.198A>G (p.Gly66=) http://identifiers.org/clinvar/92334 ^@ NM_000036.2(AMPD1):c.2046T>C (p.Asp682=) http://identifiers.org/clinvar/92335 ^@ NM_000036.2(AMPD1):c.314+10G>A http://identifiers.org/clinvar/92336 ^@ NM_000036.2(AMPD1):c.408T>A (p.Ile136=) http://identifiers.org/clinvar/92337 ^@ NM_000036.2(AMPD1):c.866+18C>A http://identifiers.org/clinvar/92338 ^@ NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) http://identifiers.org/clinvar/92339 ^@ NM_000038.5(APC):c.1005A>G (p.Leu335=) http://identifiers.org/clinvar/92340 ^@ NM_000038.5(APC):c.1659G>A (p.Trp553Ter) http://identifiers.org/clinvar/92341 ^@ NM_000038.5(APC):c.2365C>T (p.Gln789Ter) http://identifiers.org/clinvar/92342 ^@ NM_000038.5(APC):c.2547_2550delTAGA (p.Asp849Glufs) http://identifiers.org/clinvar/92343 ^@ NM_000038.5(APC):c.2731G>T (p.Glu911Ter) http://identifiers.org/clinvar/92344 ^@ NM_000038.5(APC):c.2805delC (p.Tyr935Terfs) http://identifiers.org/clinvar/92345 ^@ NM_000038.5(APC):c.3471G>A (p.Glu1157=) http://identifiers.org/clinvar/92346 ^@ NM_000038.5(APC):c.3982C>T (p.Gln1328Ter) http://identifiers.org/clinvar/92347 ^@ NM_000038.5(APC):c.4473dupT (p.Ala1492Cysfs) http://identifiers.org/clinvar/92348 ^@ NM_000038.5(APC):c.5363G>A (p.Arg1788His) http://identifiers.org/clinvar/92349 ^@ NM_000038.5(APC):c.705A>G (p.Leu235=) http://identifiers.org/clinvar/92350 ^@ NM_000046.3(ARSB):c.1072G>A (p.Val358Met) http://identifiers.org/clinvar/92351 ^@ NM_000046.3(ARSB):c.1126G>A (p.Val376Met) http://identifiers.org/clinvar/92352 ^@ NM_000046.3(ARSB):c.1151G>A (p.Ser384Asn) http://identifiers.org/clinvar/92353 ^@ NM_000046.3(ARSB):c.118_134del17 (p.Gly40Profs) http://identifiers.org/clinvar/92354 ^@ NM_000046.3(ARSB):c.1191G>A (p.Pro397=) http://identifiers.org/clinvar/92355 ^@ NM_000046.3(ARSB):c.934T>C (p.Trp312Arg) http://identifiers.org/clinvar/92356 ^@ NM_000046.3(ARSB):c.971G>T (p.Gly324Val) http://identifiers.org/clinvar/92357 ^@ NM_000046.3(ARSB):c.972A>G (p.Gly324=) http://identifiers.org/clinvar/92358 ^@ NM_000048.3(ASL):c.1164C>T (p.His388=) http://identifiers.org/clinvar/92359 ^@ NM_000048.3(ASL):c.280C>T (p.Arg94Cys) http://identifiers.org/clinvar/92360 ^@ NM_000048.3(ASL):c.35G>A (p.Arg12Gln) http://identifiers.org/clinvar/92361 ^@ NM_000048.3(ASL):c.446+1G>A http://identifiers.org/clinvar/92362 ^@ NM_000048.3(ASL):c.544C>T (p.Arg182Ter) http://identifiers.org/clinvar/92363 ^@ NM_000048.3(ASL):c.576G>A (p.Lys192=) http://identifiers.org/clinvar/92364 ^@ NM_000048.3(ASL):c.602+13C>T http://identifiers.org/clinvar/92365 ^@ NM_000048.3(ASL):c.602+1G>A http://identifiers.org/clinvar/92366 ^@ NM_000048.3(ASL):c.846C>G (p.Ser282Arg) http://identifiers.org/clinvar/92367 ^@ NM_000048.3(ASL):c.976C>A (p.Gln326Lys) http://identifiers.org/clinvar/92368 ^@ NM_000050.4(ASS1):c.496-2A>G http://identifiers.org/clinvar/92369 ^@ NM_000050.4(ASS1):c.501C>T (p.His167=) http://identifiers.org/clinvar/92370 ^@ NM_000050.4(ASS1):c.597+18A>G http://identifiers.org/clinvar/92371 ^@ NM_000050.4(ASS1):c.605C>A (p.Ala202Glu) http://identifiers.org/clinvar/92372 ^@ NM_000050.4(ASS1):c.787G>A (p.Val263Met) http://identifiers.org/clinvar/92373 ^@ NM_000050.4(ASS1):c.793C>T (p.Arg265Cys) http://identifiers.org/clinvar/92374 ^@ NM_000050.4(ASS1):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/92375 ^@ NM_000050.4(ASS1):c.836G>A (p.Arg279Gln) http://identifiers.org/clinvar/92376 ^@ NM_000050.4(ASS1):c.876T>C (p.His292=) http://identifiers.org/clinvar/92377 ^@ NM_000050.4(ASS1):c.893A>G (p.Glu298Gly) http://identifiers.org/clinvar/92378 ^@ NM_000050.4(ASS1):c.914A>T (p.Glu305Val) http://identifiers.org/clinvar/92379 ^@ NM_000052.6(ATP7A):c.1205delA (p.Lys402Serfs) http://identifiers.org/clinvar/92380 ^@ NM_000052.6(ATP7A):c.1588G>A (p.Val530Ile) http://identifiers.org/clinvar/92381 ^@ NM_000052.6(ATP7A):c.1823A>G (p.Tyr608Cys) http://identifiers.org/clinvar/92382 ^@ NM_000052.6(ATP7A):c.2299G>C (p.Val767Leu) http://identifiers.org/clinvar/92383 ^@ NM_000052.6(ATP7A):c.3802-1G>T http://identifiers.org/clinvar/92384 ^@ NM_000052.6(ATP7A):c.4048A= (p.Lys1350=) http://identifiers.org/clinvar/92385 ^@ NM_000052.6(ATP7A):c.610+8G>A http://identifiers.org/clinvar/92386 ^@ NM_000053.3(ATP7B):c.1621G>A (p.Glu541Lys) http://identifiers.org/clinvar/92387 ^@ NM_000053.3(ATP7B):c.2310C>G (p.Leu770=) http://identifiers.org/clinvar/92388 ^@ NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) http://identifiers.org/clinvar/92389 ^@ NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) http://identifiers.org/clinvar/92390 ^@ NM_000053.3(ATP7B):c.628A>G (p.Ile210Val) http://identifiers.org/clinvar/92391 ^@ NM_000053.3(ATP7B):c.915T>A (p.Cys305Ter) http://identifiers.org/clinvar/92392 ^@ NM_000057.3(BLM):c.2555+7T>C http://identifiers.org/clinvar/92393 ^@ NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) http://identifiers.org/clinvar/92394 ^@ NM_000057.3(BLM):c.3102G>A (p.Thr1034=) http://identifiers.org/clinvar/92395 ^@ NM_000057.3(BLM):c.3531C>A (p.Ala1177=) http://identifiers.org/clinvar/92396 ^@ NM_000057.3(BLM):c.3945C>T (p.Leu1315=) http://identifiers.org/clinvar/92397 ^@ NM_000057.3(BLM):c.893C>T (p.Thr298Met) http://identifiers.org/clinvar/92398 ^@ NM_000060.4(BTD):c.1370T>C (p.Val457Ala) http://identifiers.org/clinvar/92399 ^@ NM_000060.4(BTD):c.1508_1512delGGATG (p.Gly503Aspfs) http://identifiers.org/clinvar/92400 ^@ NM_000060.4(BTD):c.626G>A (p.Arg209His) http://identifiers.org/clinvar/92401 ^@ NM_000060.4(BTD):c.742A>G (p.Ile248Val) http://identifiers.org/clinvar/92402 ^@ NM_000060.4(BTD):c.830C>T (p.Pro277Leu) http://identifiers.org/clinvar/92403 ^@ NM_000060.4(BTD):c.904C>T (p.His302Tyr) http://identifiers.org/clinvar/92404 ^@ NM_000070.2(CAPN3):c.1029+3A>G http://identifiers.org/clinvar/92405 ^@ NM_000070.2(CAPN3):c.1435A>G (p.Ser479Gly) http://identifiers.org/clinvar/92406 ^@ NM_000070.2(CAPN3):c.1537-48T>C http://identifiers.org/clinvar/92407 ^@ NM_000070.2(CAPN3):c.1622G>A (p.Arg541Gln) http://identifiers.org/clinvar/92408 ^@ NM_000070.2(CAPN3):c.1746-20C>G http://identifiers.org/clinvar/92410 ^@ NM_000070.2(CAPN3):c.2218G>A (p.Gly740Ser) http://identifiers.org/clinvar/92411 ^@ NM_000070.2(CAPN3):c.223dupT (p.Tyr75Leufs) http://identifiers.org/clinvar/92412 ^@ NM_000070.2(CAPN3):c.2251_2254dupGTCA (p.Asn752Serfs) http://identifiers.org/clinvar/92413 ^@ NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) http://identifiers.org/clinvar/92414 ^@ NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) http://identifiers.org/clinvar/92415 ^@ NM_000070.2(CAPN3):c.2462C>T (p.Ala821Val) http://identifiers.org/clinvar/92416 ^@ NM_000070.2(CAPN3):c.318C>T (p.Cys106=) http://identifiers.org/clinvar/92417 ^@ NM_000070.2(CAPN3):c.479C>G (p.Ala160Gly) http://identifiers.org/clinvar/92418 ^@ NM_000070.2(CAPN3):c.580delT (p.Ser194Profs) http://identifiers.org/clinvar/92419 ^@ NM_000070.2(CAPN3):c.62G>A (p.Gly21Glu) http://identifiers.org/clinvar/92420 ^@ NM_000070.2(CAPN3):c.706G>A (p.Ala236Thr) http://identifiers.org/clinvar/92421 ^@ NM_000070.2(CAPN3):c.855_864dupGTTGATTGCA (p.Arg289Valfs) http://identifiers.org/clinvar/92422 ^@ NM_000070.2(CAPN3):c.96T>C (p.Thr32=) http://identifiers.org/clinvar/92423 ^@ NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) http://identifiers.org/clinvar/92424 ^@ NM_000071.2(CBS):c.1080C>T (p.Ala360=) http://identifiers.org/clinvar/92425 ^@ NM_000071.2(CBS):c.435G>A (p.Pro145=) http://identifiers.org/clinvar/92426 ^@ NM_000071.2(CBS):c.699C>T (p.Tyr233=) http://identifiers.org/clinvar/92427 ^@ NM_000077.4(CDKN2A):c.106dupG (p.Ala36Glyfs) http://identifiers.org/clinvar/92430 ^@ NM_000098.2(CPT2):c.1239_1240delGA (p.Lys414Thrfs) http://identifiers.org/clinvar/92431 ^@ NM_000098.2(CPT2):c.1547T>C (p.Phe516Ser) http://identifiers.org/clinvar/92432 ^@ NM_000098.2(CPT2):c.1767G>A (p.Thr589=) http://identifiers.org/clinvar/92433 ^@ NM_000098.2(CPT2):c.1939A>G (p.Met647Val) http://identifiers.org/clinvar/92434 ^@ NM_000098.2(CPT2):c.341-16T>C http://identifiers.org/clinvar/92435 ^@ NM_000104.3(CYP1B1):c.1328C>G (p.Ala443Gly) http://identifiers.org/clinvar/92436 ^@ NM_000104.3(CYP1B1):c.142C>G (p.Arg48Gly) http://identifiers.org/clinvar/92437 ^@ NM_000104.3(CYP1B1):c.355G>T (p.Ala119Ser) http://identifiers.org/clinvar/92438 ^@ NM_000117.2(EMD):c.239_240insT (p.Glu80Aspfs) http://identifiers.org/clinvar/92439 ^@ NM_000117.2(EMD):c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del) http://identifiers.org/clinvar/92440 ^@ NM_000117.2(EMD):c.355C>T (p.Gln119Ter) http://identifiers.org/clinvar/92441 ^@ NM_000117.2(EMD):c.450-2A>G http://identifiers.org/clinvar/92442 ^@ NM_000126.3(ETFA):c.39+12C>G http://identifiers.org/clinvar/92443 ^@ NM_000126.3(ETFA):c.512C>T (p.Thr171Ile) http://identifiers.org/clinvar/92444 ^@ NM_000137.2(FAH):c.267G>C (p.Leu89=) http://identifiers.org/clinvar/92445 ^@ NM_000137.2(FAH):c.456G>A (p.Trp152Ter) http://identifiers.org/clinvar/92446 ^@ NM_000137.2(FAH):c.82-13G>A http://identifiers.org/clinvar/92447 ^@ NM_000143.3(FH):c.1020T>A (p.Asn340Lys) http://identifiers.org/clinvar/92448 ^@ NM_000143.3(FH):c.1126C>T (p.Gln376Ter) http://identifiers.org/clinvar/92449 ^@ NM_000143.3(FH):c.1129T>C (p.Cys377Arg) http://identifiers.org/clinvar/92450 ^@ NM_000143.3(FH):c.1200delT (p.Asn400Lysfs) http://identifiers.org/clinvar/92451 ^@ NM_000143.3(FH):c.1255T>C (p.Ser419Pro) http://identifiers.org/clinvar/92452 ^@ NM_000143.3(FH):c.1293delA (p.Glu432Lysfs) http://identifiers.org/clinvar/92453 ^@ NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) http://identifiers.org/clinvar/92454 ^@ NM_000143.3(FH):c.1446_1449delAAAG (p.Glu484Leufs) http://identifiers.org/clinvar/92455 ^@ NM_000143.3(FH):c.320A>C (p.Asn107Thr) http://identifiers.org/clinvar/92456 ^@ NM_000143.3(FH):c.560C>G (p.Ser187Ter) http://identifiers.org/clinvar/92457 ^@ NM_000143.3(FH):c.760C>T (p.Gln254Ter) http://identifiers.org/clinvar/92458 ^@ NM_000143.3(FH):c.952C>T (p.His318Tyr) http://identifiers.org/clinvar/92459 ^@ NM_000152.4(GAA):c.*3G>A http://identifiers.org/clinvar/92460 ^@ NM_000152.4(GAA):c.1075+13C>T http://identifiers.org/clinvar/92461 ^@ NM_000152.4(GAA):c.1203G>A (p.Gln401=) http://identifiers.org/clinvar/92462 ^@ NM_000152.4(GAA):c.1327-18A>G http://identifiers.org/clinvar/92463 ^@ NM_000152.4(GAA):c.1374C>T (p.Tyr458=) http://identifiers.org/clinvar/92464 ^@ NM_000152.4(GAA):c.1438-19G>C http://identifiers.org/clinvar/92465 ^@ NM_000152.4(GAA):c.1465G>A (p.Asp489Asn) http://identifiers.org/clinvar/92466 ^@ NM_000152.4(GAA):c.1581G>A (p.Arg527=) http://identifiers.org/clinvar/92467 ^@ NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) http://identifiers.org/clinvar/92468 ^@ NM_000152.4(GAA):c.1754+12G>A http://identifiers.org/clinvar/92469 ^@ NM_000152.4(GAA):c.2012T>G (p.Met671Arg) http://identifiers.org/clinvar/92470 ^@ NM_000152.4(GAA):c.2040+20A>G http://identifiers.org/clinvar/92471 ^@ NM_000152.4(GAA):c.2066_2070dupAGCCG (p.Ala691Serfs) http://identifiers.org/clinvar/92472 ^@ NM_000152.4(GAA):c.2105G>T (p.Arg702Leu) http://identifiers.org/clinvar/92473 ^@ NM_000152.4(GAA):c.2133A>G (p.Thr711=) http://identifiers.org/clinvar/92474 ^@ NM_000152.4(GAA):c.2331+20G>A http://identifiers.org/clinvar/92475 ^@ NM_000152.4(GAA):c.2332-12A>T http://identifiers.org/clinvar/92476 ^@ NM_000152.4(GAA):c.2338G>A (p.Val780Ile) http://identifiers.org/clinvar/92477 ^@ NM_000152.4(GAA):c.2446G>A (p.Val816Ile) http://identifiers.org/clinvar/92478 ^@ NM_000152.4(GAA):c.2481+16G>A http://identifiers.org/clinvar/92479 ^@ NM_000152.4(GAA):c.2512C>T (p.Gln838Ter) http://identifiers.org/clinvar/92480 ^@ NM_000152.4(GAA):c.2544delC (p.Lys849Argfs) http://identifiers.org/clinvar/92481 ^@ NM_000152.4(GAA):c.2553G>A (p.Gly851=) http://identifiers.org/clinvar/92482 ^@ NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) http://identifiers.org/clinvar/92483 ^@ NM_000152.4(GAA):c.307T>G (p.Cys103Gly) http://identifiers.org/clinvar/92484 ^@ NM_000152.4(GAA):c.324T>C (p.Cys108=) http://identifiers.org/clinvar/92485 ^@ NM_000152.4(GAA):c.547-4C>G http://identifiers.org/clinvar/92486 ^@ NM_000152.4(GAA):c.596A>G (p.His199Arg) http://identifiers.org/clinvar/92487 ^@ NM_000152.4(GAA):c.642C>T (p.Ser214=) http://identifiers.org/clinvar/92488 ^@ NM_000152.4(GAA):c.668G>A (p.Arg223His) http://identifiers.org/clinvar/92489 ^@ NM_000152.4(GAA):c.858+7_858+8insAGCGGGC http://identifiers.org/clinvar/92490 ^@ NM_000152.4(GAA):c.921A>T (p.Ala307=) http://identifiers.org/clinvar/92491 ^@ NM_000152.4(GAA):c.955+12G>A http://identifiers.org/clinvar/92492 ^@ NM_000153.3(GALC):c.1161+2T>G http://identifiers.org/clinvar/92493 ^@ NM_000153.3(GALC):c.1162-4delT http://identifiers.org/clinvar/92494 ^@ NM_000153.3(GALC):c.1350C>T (p.Ser450=) http://identifiers.org/clinvar/92495 ^@ NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) http://identifiers.org/clinvar/92496 ^@ NM_000153.3(GALC):c.1671-15C>T http://identifiers.org/clinvar/92497 ^@ NM_000153.3(GALC):c.1685T>C (p.Ile562Thr) http://identifiers.org/clinvar/92498 ^@ NM_000153.3(GALC):c.1698A>T (p.Val566=) http://identifiers.org/clinvar/92499 ^@ NM_000153.3(GALC):c.1834+5C>G http://identifiers.org/clinvar/92500 ^@ NM_000153.3(GALC):c.1921A>G (p.Thr641Ala) http://identifiers.org/clinvar/92501 ^@ NM_000153.3(GALC):c.328+19T>A http://identifiers.org/clinvar/92502 ^@ NM_000153.3(GALC):c.330C>T (p.Asp110=) http://identifiers.org/clinvar/92503 ^@ NM_000153.3(GALC):c.334A>G (p.Thr112Ala) http://identifiers.org/clinvar/92504 ^@ NM_000153.3(GALC):c.349A>G (p.Met117Val) http://identifiers.org/clinvar/92505 ^@ NM_000153.3(GALC):c.42G>C (p.Ala14=) http://identifiers.org/clinvar/92506 ^@ NM_000153.3(GALC):c.550C>T (p.Arg184Cys) http://identifiers.org/clinvar/92507 ^@ NM_000153.3(GALC):c.583-6T>A http://identifiers.org/clinvar/92508 ^@ NM_000153.3(GALC):c.61G>C (p.Ala21Pro) http://identifiers.org/clinvar/92509 ^@ NM_000153.3(GALC):c.742G>A (p.Asp248Asn) http://identifiers.org/clinvar/92510 ^@ NM_000153.3(GALC):c.75C>A (p.Gly25=) http://identifiers.org/clinvar/92511 ^@ NM_000153.3(GALC):c.862T>C (p.Trp288Arg) http://identifiers.org/clinvar/92512 ^@ NM_000153.3(GALC):c.909-10A>G http://identifiers.org/clinvar/92513 ^@ NM_000153.3(GALC):c.984G>A (p.Gln328=) http://identifiers.org/clinvar/92514 ^@ NM_000154.1(GALK1):c.189G>A (p.Leu63=) http://identifiers.org/clinvar/92515 ^@ NM_000155.3(GALT):c.289_291delAAC (p.Asn97del) http://identifiers.org/clinvar/92516 ^@ NM_000155.3(GALT):c.291C>T (p.Asn97=) http://identifiers.org/clinvar/92517 ^@ NM_000155.3(GALT):c.508-1G>C http://identifiers.org/clinvar/92518 ^@ NM_000155.3(GALT):c.562C>A (p.Gln188Lys) http://identifiers.org/clinvar/92519 ^@ NM_000155.3(GALT):c.565_578delGTATGGGCCAGCAG (p.Val189Phefs) http://identifiers.org/clinvar/92520 ^@ NM_000155.3(GALT):c.568T>C (p.Trp190Arg) http://identifiers.org/clinvar/92521 ^@ NM_000155.3(GALT):c.688-2A>C http://identifiers.org/clinvar/92522 ^@ NM_000155.3(GALT):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/92523 ^@ NM_000155.3(GALT):c.820+4A>C http://identifiers.org/clinvar/92524 ^@ NM_000155.3(GALT):c.905-2A>G http://identifiers.org/clinvar/92525 ^@ NM_000155.3(GALT):c.985T>C (p.Ser329Pro) http://identifiers.org/clinvar/92526 ^@ NM_000159.3(GCDH):c.1120A>G (p.Asn374Asp) http://identifiers.org/clinvar/92527 ^@ NM_000159.3(GCDH):c.1157G>C (p.Arg386Pro) http://identifiers.org/clinvar/92528 ^@ NM_000159.3(GCDH):c.1167G>A (p.Leu389=) http://identifiers.org/clinvar/92529 ^@ NM_000159.3(GCDH):c.1173G>T (p.Gly391=) http://identifiers.org/clinvar/92530 ^@ NM_000159.3(GCDH):c.278A>G (p.His93Arg) http://identifiers.org/clinvar/92531 ^@ NM_000159.3(GCDH):c.428T>C (p.Val143Ala) http://identifiers.org/clinvar/92532 ^@ NM_000159.3(GCDH):c.517C>T (p.Leu173Phe) http://identifiers.org/clinvar/92533 ^@ NM_000159.3(GCDH):c.542A>G (p.Glu181Gly) http://identifiers.org/clinvar/92534 ^@ NM_000159.3(GCDH):c.636-1G>A http://identifiers.org/clinvar/92535 ^@ NM_001205019.1(GK):c.1076G>A (p.Gly359Asp) http://identifiers.org/clinvar/92536 ^@ NM_001205019.1(GK):c.1357+20T>C http://identifiers.org/clinvar/92537 ^@ NM_000169.2(GLA):c.1019_1020insA (p.Trp340Terfs) http://identifiers.org/clinvar/92538 ^@ NM_000169.2(GLA):c.1033_1034delTC (p.Ser345Argfs) http://identifiers.org/clinvar/92539 ^@ NM_000169.2(GLA):c.119C>G (p.Pro40Arg) http://identifiers.org/clinvar/92540 ^@ NM_000169.2(GLA):c.1247A>C (p.Gln416Pro) http://identifiers.org/clinvar/92541 ^@ NM_000169.2(GLA):c.125T>C (p.Met42Thr) http://identifiers.org/clinvar/92542 ^@ NM_000169.2(GLA):c.132G>C (p.Trp44Cys) http://identifiers.org/clinvar/92543 ^@ NM_000169.2(GLA):c.137A>T (p.His46Leu) http://identifiers.org/clinvar/92544 ^@ NM_000169.2(GLA):c.142G>C (p.Glu48Gln) http://identifiers.org/clinvar/92545 ^@ NM_000169.2(GLA):c.146G>C (p.Arg49Pro) http://identifiers.org/clinvar/92546 ^@ NM_000169.2(GLA):c.195-1G>C http://identifiers.org/clinvar/92547 ^@ NM_000169.2(GLA):c.19G>T (p.Glu7Ter) http://identifiers.org/clinvar/92548 ^@ NM_000169.2(GLA):c.242G>A (p.Trp81Ter) http://identifiers.org/clinvar/92549 ^@ NM_000169.2(GLA):c.281G>A (p.Cys94Tyr) http://identifiers.org/clinvar/92551 ^@ NM_000169.2(GLA):c.335G>T (p.Arg112Leu) http://identifiers.org/clinvar/92552 ^@ NM_000169.2(GLA):c.369+5G>T http://identifiers.org/clinvar/92553 ^@ NM_000169.2(GLA):c.509A>G (p.Asp170Gly) http://identifiers.org/clinvar/92554 ^@ NM_000169.2(GLA):c.548-2A>G http://identifiers.org/clinvar/92555 ^@ NM_000169.2(GLA):c.548G>T (p.Gly183Val) http://identifiers.org/clinvar/92556 ^@ NM_000169.2(GLA):c.595G>A (p.Val199Met) http://identifiers.org/clinvar/92557 ^@ NM_000169.2(GLA):c.630delC (p.Gln212Lysfs) http://identifiers.org/clinvar/92558 ^@ NM_000169.2(GLA):c.639+4A>T http://identifiers.org/clinvar/92559 ^@ NM_000169.2(GLA):c.640-16A>G http://identifiers.org/clinvar/92560 ^@ NM_000169.2(GLA):c.640-1G>T http://identifiers.org/clinvar/92561 ^@ NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) http://identifiers.org/clinvar/92562 ^@ NM_000169.2(GLA):c.662_663delAG (p.Gln221Leufs) http://identifiers.org/clinvar/92563 ^@ NM_000169.2(GLA):c.677G>A (p.Trp226Ter) http://identifiers.org/clinvar/92564 ^@ NM_000169.2(GLA):c.734G>A (p.Trp245Ter) http://identifiers.org/clinvar/92565 ^@ NM_000169.2(GLA):c.734G>T (p.Trp245Leu) http://identifiers.org/clinvar/92566 ^@ NM_000169.2(GLA):c.748C>T (p.Gln250Ter) http://identifiers.org/clinvar/92567 ^@ NM_000169.2(GLA):c.823C>T (p.Leu275Phe) http://identifiers.org/clinvar/92568 ^@ NM_000169.2(GLA):c.865A>T (p.Ile289Phe) http://identifiers.org/clinvar/92569 ^@ NM_000169.2(GLA):c.899T>C (p.Leu300Pro) http://identifiers.org/clinvar/92570 ^@ NM_000169.2(GLA):c.901C>T (p.Arg301Ter) http://identifiers.org/clinvar/92571 ^@ NM_000169.2(GLA):c.959_962delATCA (p.Asn320Argfs) http://identifiers.org/clinvar/92572 ^@ NM_000169.2(GLA):c.966C>G (p.Asp322Glu) http://identifiers.org/clinvar/92573 ^@ NM_000169.2(GLA):c.973G>A (p.Gly325Ser) http://identifiers.org/clinvar/92574 ^@ NM_000169.2(GLA):c.974G>A (p.Gly325Asp) http://identifiers.org/clinvar/92575 ^@ NM_000169.2(GLA):c.996_999delACAG (p.Gln333Glufs) http://identifiers.org/clinvar/92576 ^@ NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) http://identifiers.org/clinvar/92577 ^@ NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) http://identifiers.org/clinvar/92578 ^@ NM_000179.2(MSH6):c.3516_3517delAG (p.Arg1172Serfs) http://identifiers.org/clinvar/92580 ^@ NM_000180.3(GUCY2D):c.2465G>C (p.Arg822Pro) http://identifiers.org/clinvar/92581 ^@ NM_000180.3(GUCY2D):c.61T>C (p.Trp21Arg) http://identifiers.org/clinvar/92582 ^@ NM_000180.3(GUCY2D):c.741C>T (p.His247=) http://identifiers.org/clinvar/92583 ^@ NM_000181.3(GUSB):c.1065+27C>G http://identifiers.org/clinvar/92584 ^@ NM_000181.3(GUSB):c.1084G>A (p.Asp362Asn) http://identifiers.org/clinvar/92585 ^@ NM_000181.3(GUSB):c.1169A>G (p.Glu390Gly) http://identifiers.org/clinvar/92586 ^@ NM_000181.3(GUSB):c.162C>T (p.Asn54=) http://identifiers.org/clinvar/92587 ^@ NM_000181.3(GUSB):c.1740C>T (p.Tyr580=) http://identifiers.org/clinvar/92588 ^@ NM_000181.3(GUSB):c.1946T>C (p.Leu649Pro) http://identifiers.org/clinvar/92589 ^@ NM_000181.3(GUSB):c.266A>G (p.Asp89Gly) http://identifiers.org/clinvar/92590 ^@ NM_000181.3(GUSB):c.295G>A (p.Val99Met) http://identifiers.org/clinvar/92591 ^@ NM_000181.3(GUSB):c.724+25_724+26dupTC http://identifiers.org/clinvar/92592 ^@ NM_000181.3(GUSB):c.866G>A (p.Trp289Ter) http://identifiers.org/clinvar/92593 ^@ NM_000182.4(HADHA):c.-1G>T http://identifiers.org/clinvar/92594 ^@ NM_000182.4(HADHA):c.157C>T (p.Arg53Ter) http://identifiers.org/clinvar/92595 ^@ NM_000182.4(HADHA):c.1981C>T (p.Leu661=) http://identifiers.org/clinvar/92596 ^@ NM_000182.4(HADHA):c.474C>T (p.Tyr158=) http://identifiers.org/clinvar/92597 ^@ NM_000183.2(HADHB):c.1149+4A>T http://identifiers.org/clinvar/92598 ^@ NM_000183.2(HADHB):c.1280G>A (p.Gly427Glu) http://identifiers.org/clinvar/92599 ^@ NM_000183.2(HADHB):c.246A>G (p.Ala82=) http://identifiers.org/clinvar/92600 ^@ NM_000183.2(HADHB):c.5_7dupCTA (p.Thr2_Ile3insThr) http://identifiers.org/clinvar/92601 ^@ NM_000183.2(HADHB):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/92602 ^@ NM_000191.2(HMGCL):c.654A>G (p.Leu218=) http://identifiers.org/clinvar/92603 ^@ NM_000194.2(HPRT1):c.384+1G>A http://identifiers.org/clinvar/92604 ^@ NM_000194.2(HPRT1):c.486-1G>A http://identifiers.org/clinvar/92605 ^@ NM_000194.2(HPRT1):c.496A>G (p.Lys166Glu) http://identifiers.org/clinvar/92606 ^@ NM_000194.2(HPRT1):c.655T>A (p.Ter219Lys) http://identifiers.org/clinvar/92607 ^@ NM_000199.3(SGSH):c.1081G>A (p.Val361Ile) http://identifiers.org/clinvar/92608 ^@ NM_000199.3(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) http://identifiers.org/clinvar/92609 ^@ NM_000199.3(SGSH):c.1159G>A (p.Val387Met) http://identifiers.org/clinvar/92610 ^@ NM_000199.3(SGSH):c.1367G>A (p.Arg456His) http://identifiers.org/clinvar/92611 ^@ NM_000199.3(SGSH):c.211T>C (p.Ser71Pro) http://identifiers.org/clinvar/92612 ^@ NM_000199.3(SGSH):c.663+17T>C http://identifiers.org/clinvar/92613 ^@ NM_000199.3(SGSH):c.97G>A (p.Gly33Arg) http://identifiers.org/clinvar/92614 ^@ NM_000202.7(IDS):c.103+1G>C http://identifiers.org/clinvar/92615 ^@ NM_000202.7(IDS):c.1403G>C (p.Arg468Pro) http://identifiers.org/clinvar/92616 ^@ NM_000202.7(IDS):c.1508T>A (p.Val503Asp) http://identifiers.org/clinvar/92617 ^@ NM_000202.7(IDS):c.253G>A (p.Ala85Thr) http://identifiers.org/clinvar/92618 ^@ NM_000202.7(IDS):c.262C>T (p.Arg88Cys) http://identifiers.org/clinvar/92619 ^@ NM_000202.7(IDS):c.438C>T (p.Thr146=) http://identifiers.org/clinvar/92620 ^@ NM_000202.7(IDS):c.587T>C (p.Leu196Ser) http://identifiers.org/clinvar/92621 ^@ NM_000202.7(IDS):c.597delA (p.Lys199Asnfs) http://identifiers.org/clinvar/92622 ^@ NM_000202.7(IDS):c.641C>T (p.Thr214Met) http://identifiers.org/clinvar/92623 ^@ NM_000203.4(IDUA):c.1045G>A (p.Asp349Asn) http://identifiers.org/clinvar/92624 ^@ NM_000203.4(IDUA):c.1081G>A (p.Ala361Thr) http://identifiers.org/clinvar/92625 ^@ NM_000203.4(IDUA):c.1164G>C (p.Thr388=) http://identifiers.org/clinvar/92626 ^@ NM_000203.4(IDUA):c.1190-10dupC http://identifiers.org/clinvar/92628 ^@ NM_000203.4(IDUA):c.1230C>G (p.Thr410=) http://identifiers.org/clinvar/92629 ^@ NM_000203.4(IDUA):c.1302G>C (p.Trp434Cys) http://identifiers.org/clinvar/92630 ^@ NM_000203.4(IDUA):c.1360G>A (p.Val454Ile) http://identifiers.org/clinvar/92631 ^@ NM_000203.4(IDUA):c.1402+1G>C http://identifiers.org/clinvar/92632 ^@ NM_000203.4(IDUA):c.1467C>T (p.Arg489=) http://identifiers.org/clinvar/92634 ^@ NM_000203.4(IDUA):c.1650+5G>A http://identifiers.org/clinvar/92635 ^@ NM_000203.4(IDUA):c.1771G>A (p.Ala591Thr) http://identifiers.org/clinvar/92636 ^@ NM_000203.4(IDUA):c.1799delC (p.Ser600Terfs) http://identifiers.org/clinvar/92637 ^@ NM_000203.4(IDUA):c.246C>G (p.His82Gln) http://identifiers.org/clinvar/92638 ^@ NM_000203.4(IDUA):c.24C>A (p.Ala8=) http://identifiers.org/clinvar/92639 ^@ NM_000203.4(IDUA):c.299+1G>T http://identifiers.org/clinvar/92640 ^@ NM_000203.4(IDUA):c.299+6C>T http://identifiers.org/clinvar/92641 ^@ NM_000203.4(IDUA):c.314G>A (p.Arg105Gln) http://identifiers.org/clinvar/92642 ^@ NM_000203.4(IDUA):c.352C>T (p.Leu118=) http://identifiers.org/clinvar/92643 ^@ NM_000203.4(IDUA):c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) http://identifiers.org/clinvar/92644 ^@ NM_000203.4(IDUA):c.501C>G (p.Tyr167Ter) http://identifiers.org/clinvar/92645 ^@ NM_000203.4(IDUA):c.543T>C (p.Asn181=) http://identifiers.org/clinvar/92646 ^@ NM_000203.4(IDUA):c.590-8C>T http://identifiers.org/clinvar/92647 ^@ NM_000203.4(IDUA):c.60G>A (p.Ala20=) http://identifiers.org/clinvar/92648 ^@ NM_000203.4(IDUA):c.767T>C (p.Leu256Pro) http://identifiers.org/clinvar/92649 ^@ NM_000203.4(IDUA):c.891C>T (p.Asn297=) http://identifiers.org/clinvar/92650 ^@ NM_000203.4(IDUA):c.942G>C (p.Ala314=) http://identifiers.org/clinvar/92651 ^@ NM_000203.4(IDUA):c.99T>G (p.His33Gln) http://identifiers.org/clinvar/92652 ^@ NM_000231.2(SGCG):c.*13C>T http://identifiers.org/clinvar/92653 ^@ NM_000231.2(SGCG):c.228T>C (p.Asp76=) http://identifiers.org/clinvar/92654 ^@ NM_000231.2(SGCG):c.312T>G (p.Leu104=) http://identifiers.org/clinvar/92655 ^@ NM_000231.2(SGCG):c.347G>A (p.Arg116His) http://identifiers.org/clinvar/92656 ^@ NM_000231.2(SGCG):c.703-18T>C http://identifiers.org/clinvar/92657 ^@ NM_000231.2(SGCG):c.705T>C (p.Leu235=) http://identifiers.org/clinvar/92658 ^@ NM_000232.4(SGCB):c.-20delG http://identifiers.org/clinvar/92659 ^@ NM_000232.4(SGCB):c.151C>T (p.Arg51Cys) http://identifiers.org/clinvar/92660 ^@ NM_000232.4(SGCB):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/92661 ^@ NM_000232.4(SGCB):c.368A>C (p.Tyr123Ser) http://identifiers.org/clinvar/92662 ^@ NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) http://identifiers.org/clinvar/92663 ^@ NM_000240.3(MAOA):c.1410T>C (p.Asp470=) http://identifiers.org/clinvar/92664 ^@ NM_000240.3(MAOA):c.891G>T (p.Arg297=) http://identifiers.org/clinvar/92665 ^@ NM_000251.2(MSH2):c.1277-8T>C http://identifiers.org/clinvar/92666 ^@ NM_000252.2(MTM1):c.1040T>G (p.Leu347Ter) http://identifiers.org/clinvar/92667 ^@ NM_000252.2(MTM1):c.1054-5G>C http://identifiers.org/clinvar/92668 ^@ NM_000252.2(MTM1):c.122A>G (p.Glu41Gly) http://identifiers.org/clinvar/92669 ^@ NM_000252.2(MTM1):c.1260+3G>A http://identifiers.org/clinvar/92670 ^@ NM_000252.2(MTM1):c.1306_1310dupCCTAT (p.Phe438Leufs) http://identifiers.org/clinvar/92671 ^@ NM_000252.2(MTM1):c.1357_1358delCC (p.Pro453Tyrfs) http://identifiers.org/clinvar/92672 ^@ NM_000252.2(MTM1):c.1369G>A (p.Glu457Lys) http://identifiers.org/clinvar/92673 ^@ NM_000252.2(MTM1):c.142_143delGA (p.Glu48Serfs) http://identifiers.org/clinvar/92674 ^@ NM_000252.2(MTM1):c.1537_1564del28insAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) http://identifiers.org/clinvar/92675 ^@ NM_000252.2(MTM1):c.1644+1G>T http://identifiers.org/clinvar/92676 ^@ NM_000252.2(MTM1):c.595_599delCCTGC (p.Pro199Serfs) http://identifiers.org/clinvar/92677 ^@ NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) http://identifiers.org/clinvar/92678 ^@ NM_000252.2(MTM1):c.70C>T (p.Arg24Ter) http://identifiers.org/clinvar/92679 ^@ NM_000255.3(MUT):c.1445-2A>G http://identifiers.org/clinvar/92680 ^@ NM_000255.3(MUT):c.1495G>A (p.Ala499Thr) http://identifiers.org/clinvar/92681 ^@ NM_000255.3(MUT):c.1595G>A (p.Arg532His) http://identifiers.org/clinvar/92682 ^@ NM_000255.3(MUT):c.1629C>T (p.Ser543=) http://identifiers.org/clinvar/92683 ^@ NM_000255.3(MUT):c.1852_1854delCTT (p.Leu618del) http://identifiers.org/clinvar/92684 ^@ NM_000255.3(MUT):c.1992G>A (p.Ala664=) http://identifiers.org/clinvar/92685 ^@ NM_000255.3(MUT):c.2011A>G (p.Ile671Val) http://identifiers.org/clinvar/92686 ^@ NM_000255.3(MUT):c.385+14G>A http://identifiers.org/clinvar/92687 ^@ NM_000255.3(MUT):c.636G>A (p.Lys212=) http://identifiers.org/clinvar/92688 ^@ NM_000255.3(MUT):c.91C>T (p.Arg31Ter) http://identifiers.org/clinvar/92689 ^@ NM_000256.3(MYBPC3):c.1641_1642delGT (p.Tyr548Profs) http://identifiers.org/clinvar/92690 ^@ NM_000256.3(MYBPC3):c.2737+5G>A http://identifiers.org/clinvar/92691 ^@ NM_000263.3(NAGLU):c.1364A>G (p.Tyr455Cys) http://identifiers.org/clinvar/92692 ^@ NM_000263.3(NAGLU):c.2209C>A (p.Arg737Ser) http://identifiers.org/clinvar/92693 ^@ NM_000263.3(NAGLU):c.2209C>G (p.Arg737Gly) http://identifiers.org/clinvar/92694 ^@ NM_000263.3(NAGLU):c.423T>C (p.Ser141=) http://identifiers.org/clinvar/92695 ^@ NM_000263.3(NAGLU):c.503G>A (p.Trp168Ter) http://identifiers.org/clinvar/92696 ^@ NM_000263.3(NAGLU):c.830_832delGCT (p.Cys277del) http://identifiers.org/clinvar/92697 ^@ NM_000263.3(NAGLU):c.933C>G (p.Ala311=) http://identifiers.org/clinvar/92698 ^@ NM_000264.3(PTCH1):c.4080C>T (p.Ser1360=) http://identifiers.org/clinvar/92699 ^@ NM_000266.3(NDP):c.109C>T (p.Arg37Ter) http://identifiers.org/clinvar/92700 ^@ NM_000271.4(NPC1):c.1300C>T (p.Pro434Ser) http://identifiers.org/clinvar/92701 ^@ NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) http://identifiers.org/clinvar/92702 ^@ NM_000271.4(NPC1):c.1947+10G>C http://identifiers.org/clinvar/92703 ^@ NM_000271.4(NPC1):c.1947+13_1947+16dupGGGG http://identifiers.org/clinvar/92704 ^@ NM_000271.4(NPC1):c.1947+14G>T http://identifiers.org/clinvar/92705 ^@ NM_000271.4(NPC1):c.1947+8G>C http://identifiers.org/clinvar/92706 ^@ NM_000271.4(NPC1):c.2196dupT (p.Pro733Serfs) http://identifiers.org/clinvar/92707 ^@ NM_000271.4(NPC1):c.2514+6C>T http://identifiers.org/clinvar/92708 ^@ NM_000271.4(NPC1):c.2862G>A (p.Ser954=) http://identifiers.org/clinvar/92709 ^@ NM_000271.4(NPC1):c.3198C>T (p.Thr1066=) http://identifiers.org/clinvar/92710 ^@ NM_000271.4(NPC1):c.3246-20G>A http://identifiers.org/clinvar/92711 ^@ NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) http://identifiers.org/clinvar/92712 ^@ NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) http://identifiers.org/clinvar/92713 ^@ NM_000271.4(NPC1):c.3535A>G (p.Met1179Val) http://identifiers.org/clinvar/92714 ^@ NM_000271.4(NPC1):c.644A>G (p.His215Arg) http://identifiers.org/clinvar/92715 ^@ NM_000271.4(NPC1):c.665A>G (p.Asn222Ser) http://identifiers.org/clinvar/92716 ^@ NM_000272.3(NPHP1):c.1184dupC (p.Leu396Serfs) http://identifiers.org/clinvar/92717 ^@ NM_000272.3(NPHP1):c.133A>C (p.Ile45Leu) http://identifiers.org/clinvar/92718 ^@ NM_000272.3(NPHP1):c.1755T>C (p.Tyr585=) http://identifiers.org/clinvar/92719 ^@ NM_000272.3(NPHP1):c.654G>A (p.Glu218=) http://identifiers.org/clinvar/92720 ^@ NM_000272.3(NPHP1):c.773C>T (p.Ala258Val) http://identifiers.org/clinvar/92721 ^@ NM_000276.3(OCRL):c.1498C>G (p.Arg500Gly) http://identifiers.org/clinvar/92722 ^@ NM_000276.3(OCRL):c.199+16C>G http://identifiers.org/clinvar/92723 ^@ NM_000276.3(OCRL):c.2563delG (p.Val855Serfs) http://identifiers.org/clinvar/92724 ^@ NM_000276.3(OCRL):c.2582-1G>A http://identifiers.org/clinvar/92725 ^@ NM_000276.3(OCRL):c.439+3A>G http://identifiers.org/clinvar/92726 ^@ NM_000276.3(OCRL):c.909_910delAG (p.Gly304Phefs) http://identifiers.org/clinvar/92727 ^@ NM_000277.1(PAH):c.1042C>G (p.Leu348Val) http://identifiers.org/clinvar/92729 ^@ NM_000277.1(PAH):c.1068C>A (p.Tyr356Ter) http://identifiers.org/clinvar/92730 ^@ NM_000277.1(PAH):c.1200-1G>A http://identifiers.org/clinvar/92731 ^@ NM_000277.1(PAH):c.1208C>T (p.Ala403Val) http://identifiers.org/clinvar/92732 ^@ NM_000277.1(PAH):c.1278T>C (p.Asn426=) http://identifiers.org/clinvar/92734 ^@ NM_000277.1(PAH):c.165T>G (p.Phe55Leu) http://identifiers.org/clinvar/92736 ^@ NM_000277.1(PAH):c.168+19T>C http://identifiers.org/clinvar/92737 ^@ NM_000277.1(PAH):c.169G>A (p.Glu57Lys) http://identifiers.org/clinvar/92738 ^@ NM_000277.1(PAH):c.204A>T (p.Arg68Ser) http://identifiers.org/clinvar/92740 ^@ NM_000277.1(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del) http://identifiers.org/clinvar/92741 ^@ NM_000277.1(PAH):c.355C>T (p.Pro119Ser) http://identifiers.org/clinvar/92742 ^@ NM_000277.1(PAH):c.441+5G>T http://identifiers.org/clinvar/92743 ^@ NM_000277.1(PAH):c.500A>T (p.Asn167Ile) http://identifiers.org/clinvar/92744 ^@ NM_000277.1(PAH):c.508C>G (p.His170Asp) http://identifiers.org/clinvar/92745 ^@ NM_000277.1(PAH):c.510-20_510-18dupATT http://identifiers.org/clinvar/92746 ^@ NM_000277.1(PAH):c.533A>G (p.Glu178Gly) http://identifiers.org/clinvar/92747 ^@ NM_000277.1(PAH):c.638T>C (p.Leu213Pro) http://identifiers.org/clinvar/92748 ^@ NM_000277.1(PAH):c.735G>A (p.Val245=) http://identifiers.org/clinvar/92749 ^@ NM_000277.1(PAH):c.841C>T (p.Pro281Ser) http://identifiers.org/clinvar/92750 ^@ NM_000277.1(PAH):c.890G>A (p.Arg297His) http://identifiers.org/clinvar/92751 ^@ NM_000277.1(PAH):c.898G>T (p.Ala300Ser) http://identifiers.org/clinvar/92752 ^@ NM_000277.1(PAH):c.912+1G>A http://identifiers.org/clinvar/92753 ^@ NM_000277.1(PAH):c.926C>T (p.Ala309Val) http://identifiers.org/clinvar/92754 ^@ NM_000277.1(PAH):c.955G>T (p.Glu319Ter) http://identifiers.org/clinvar/92755 ^@ NM_000277.1(PAH):c.969+43G>T http://identifiers.org/clinvar/92756 ^@ NM_000277.1(PAH):c.974A>G (p.Tyr325Cys) http://identifiers.org/clinvar/92757 ^@ NM_000280.4(PAX6):c.130C>A (p.Arg44=) http://identifiers.org/clinvar/92758 ^@ NM_000280.4(PAX6):c.357+1G>A http://identifiers.org/clinvar/92759 ^@ NM_000280.4(PAX6):c.46delG (p.Val16Serfs) http://identifiers.org/clinvar/92760 ^@ NM_000282.3(PCCA):c.1023dupT (p.Lys342Terfs) http://identifiers.org/clinvar/92761 ^@ NM_000282.3(PCCA):c.1423A>G (p.Ile475Val) http://identifiers.org/clinvar/92764 ^@ NM_000282.3(PCCA):c.300+20G>T http://identifiers.org/clinvar/92765 ^@ NM_000282.3(PCCA):c.914+19A>G http://identifiers.org/clinvar/92766 ^@ NM_000283.3(PDE6B):c.1540delC (p.Leu514Trpfs) http://identifiers.org/clinvar/92767 ^@ NM_000283.3(PDE6B):c.313G>A (p.Glu105Lys) http://identifiers.org/clinvar/92768 ^@ NM_000283.3(PDE6B):c.615C>T (p.Asp205=) http://identifiers.org/clinvar/92769 ^@ NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) http://identifiers.org/clinvar/92770 ^@ NM_000284.3(PDHA1):c.483C>T (p.Tyr161=) http://identifiers.org/clinvar/92771 ^@ NM_000284.3(PDHA1):c.760-15C>A http://identifiers.org/clinvar/92772 ^@ NM_000284.3(PDHA1):c.795A>G (p.Ala265=) http://identifiers.org/clinvar/92773 ^@ NM_000286.2(PEX12):c.102A>T (p.Arg34Ser) http://identifiers.org/clinvar/92774 ^@ NM_000286.2(PEX12):c.451C>T (p.Arg151Cys) http://identifiers.org/clinvar/92775 ^@ NM_000286.2(PEX12):c.681-3_681-2delCA http://identifiers.org/clinvar/92776 ^@ NM_000286.2(PEX12):c.888_889delCT (p.Leu297Thrfs) http://identifiers.org/clinvar/92777 ^@ NM_000286.2(PEX12):c.894delC (p.Met300Terfs) http://identifiers.org/clinvar/92778 ^@ NM_000287.3(PEX6):c.1071A>G (p.Leu357=) http://identifiers.org/clinvar/92779 ^@ NM_000287.3(PEX6):c.1338_1339delTG (p.Ala447Cysfs) http://identifiers.org/clinvar/92780 ^@ NM_000287.3(PEX6):c.1480-5C>T http://identifiers.org/clinvar/92781 ^@ NM_000287.3(PEX6):c.1961+20G>A http://identifiers.org/clinvar/92782 ^@ NM_000287.3(PEX6):c.207C>T (p.Pro69=) http://identifiers.org/clinvar/92783 ^@ NM_000287.3(PEX6):c.210G>A (p.Gly70=) http://identifiers.org/clinvar/92784 ^@ NM_000287.3(PEX6):c.235G>C (p.Ala79Pro) http://identifiers.org/clinvar/92785 ^@ NM_000287.3(PEX6):c.2364G>A (p.Val788=) http://identifiers.org/clinvar/92786 ^@ NM_000287.3(PEX6):c.2814G>A (p.Glu938=) http://identifiers.org/clinvar/92787 ^@ NM_000287.3(PEX6):c.2816C>A (p.Pro939Gln) http://identifiers.org/clinvar/92788 ^@ NM_000287.3(PEX6):c.330C>G (p.Thr110=) http://identifiers.org/clinvar/92789 ^@ NM_000287.3(PEX6):c.399G>T (p.Val133=) http://identifiers.org/clinvar/92790 ^@ NM_000287.3(PEX6):c.689_690dupAG (p.Ser232Hisfs) http://identifiers.org/clinvar/92791 ^@ NM_000287.3(PEX6):c.883-3T>C http://identifiers.org/clinvar/92792 ^@ NM_000297.3(PKD2):c.1359A>G (p.Pro453=) http://identifiers.org/clinvar/92793 ^@ NM_000297.3(PKD2):c.1899-6T>G http://identifiers.org/clinvar/92794 ^@ NM_000297.3(PKD2):c.1906C>A (p.Gln636Lys) http://identifiers.org/clinvar/92795 ^@ NM_000297.3(PKD2):c.420G>A (p.Gly140=) http://identifiers.org/clinvar/92796 ^@ NM_000297.3(PKD2):c.568G>A (p.Ala190Thr) http://identifiers.org/clinvar/92797 ^@ NM_000297.3(PKD2):c.709+1G>A http://identifiers.org/clinvar/92798 ^@ NM_000297.3(PKD2):c.83G>C (p.Arg28Pro) http://identifiers.org/clinvar/92799 ^@ NM_000303.2(PMM2):c.179-15dupT http://identifiers.org/clinvar/92800 ^@ NM_000303.2(PMM2):c.323C>T (p.Ala108Val) http://identifiers.org/clinvar/92801 ^@ NM_000303.2(PMM2):c.441C>G (p.Leu147=) http://identifiers.org/clinvar/92802 ^@ NM_000303.2(PMM2):c.447+19T>C http://identifiers.org/clinvar/92803 ^@ NM_000303.2(PMM2):c.590A>C (p.Glu197Ala) http://identifiers.org/clinvar/92804 ^@ NM_000303.2(PMM2):c.623G>C (p.Gly208Ala) http://identifiers.org/clinvar/92805 ^@ NM_000303.2(PMM2):c.652C>G (p.His218Asp) http://identifiers.org/clinvar/92806 ^@ NM_000303.2(PMM2):c.686A>C (p.Tyr229Ser) http://identifiers.org/clinvar/92807 ^@ NM_000303.2(PMM2):c.95_96delTAinsGC (p.Leu32Arg) http://identifiers.org/clinvar/92808 ^@ NM_000314.6(PTEN):c.-9C>G http://identifiers.org/clinvar/92809 ^@ NM_000314.6(PTEN):c.1026+1delG http://identifiers.org/clinvar/92810 ^@ NM_000314.6(PTEN):c.1026+32T>G http://identifiers.org/clinvar/92811 ^@ NM_000314.6(PTEN):c.1026G>C (p.Lys342Asn) http://identifiers.org/clinvar/92812 ^@ NM_000314.6(PTEN):c.1040_1041insA (p.Phe347Leufs) http://identifiers.org/clinvar/92813 ^@ NM_000314.6(PTEN):c.132C>T (p.Gly44=) http://identifiers.org/clinvar/92814 ^@ NM_000314.6(PTEN):c.182A>T (p.His61Leu) http://identifiers.org/clinvar/92815 ^@ NM_000314.6(PTEN):c.202T>A (p.Tyr68Asn) http://identifiers.org/clinvar/92816 ^@ NM_000314.6(PTEN):c.209+4_209+7delAGTA http://identifiers.org/clinvar/92817 ^@ NM_000314.6(PTEN):c.254-30dupT http://identifiers.org/clinvar/92818 ^@ NM_000314.6(PTEN):c.254-39G>T http://identifiers.org/clinvar/92819 ^@ NM_000314.6(PTEN):c.286C>T (p.Pro96Ser) http://identifiers.org/clinvar/92820 ^@ NM_000314.6(PTEN):c.331T>C (p.Trp111Arg) http://identifiers.org/clinvar/92821 ^@ NM_000314.6(PTEN):c.380G>T (p.Gly127Val) http://identifiers.org/clinvar/92822 ^@ NM_000314.6(PTEN):c.395G>A (p.Gly132Asp) http://identifiers.org/clinvar/92824 ^@ NM_000314.6(PTEN):c.44G>T (p.Arg15Ile) http://identifiers.org/clinvar/92825 ^@ NM_000314.6(PTEN):c.463T>A (p.Tyr155Asn) http://identifiers.org/clinvar/92826 ^@ NM_000314.6(PTEN):c.73T>G (p.Leu25Val) http://identifiers.org/clinvar/92827 ^@ NM_000314.6(PTEN):c.79+35C>T http://identifiers.org/clinvar/92828 ^@ NM_000314.6(PTEN):c.800delA (p.Lys267Argfs) http://identifiers.org/clinvar/92829 ^@ NM_000314.6(PTEN):c.801+23G>A http://identifiers.org/clinvar/92830 ^@ NM_000314.6(PTEN):c.802-18C>T http://identifiers.org/clinvar/92831 ^@ NM_000314.6(PTEN):c.802-3dupT http://identifiers.org/clinvar/92832 ^@ NM_000314.6(PTEN):c.802-4_802-3dupTT http://identifiers.org/clinvar/92833 ^@ NM_000314.6(PTEN):c.802-4_802-3delTT http://identifiers.org/clinvar/92834 ^@ NM_000314.6(PTEN):c.804C>A (p.Asp268Glu) http://identifiers.org/clinvar/92835 ^@ NM_000314.6(PTEN):c.830C>A (p.Thr277Lys) http://identifiers.org/clinvar/92836 ^@ NM_000314.6(PTEN):c.956_959delCTTT (p.Thr319Lysfs) http://identifiers.org/clinvar/92837 ^@ NM_001079867.1(PEX2):c.722G>T (p.Gly241Val) http://identifiers.org/clinvar/92838 ^@ NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) http://identifiers.org/clinvar/92839 ^@ NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) http://identifiers.org/clinvar/92840 ^@ NM_000321.2(RB1):c.1585dupT (p.Tyr529Leufs) http://identifiers.org/clinvar/92841 ^@ NM_000321.2(RB1):c.2067_2079delGAATGAGTATGAAinsCAC (p.Gln689Hisfs) http://identifiers.org/clinvar/92842 ^@ NM_000321.2(RB1):c.2626C>T (p.Arg876Cys) http://identifiers.org/clinvar/92843 ^@ NM_000321.2(RB1):c.2664-10T>A http://identifiers.org/clinvar/92844 ^@ NM_000321.2(RB1):c.380+10C>G http://identifiers.org/clinvar/92845 ^@ NM_000321.2(RB1):c.380+12T>C http://identifiers.org/clinvar/92846 ^@ NM_000322.4(PRPH2):c.318T>C (p.Val106=) http://identifiers.org/clinvar/92847 ^@ NM_000326.4(RLBP1):c.303C>T (p.Arg101=) http://identifiers.org/clinvar/92848 ^@ NM_000327.3(ROM1):c.269C>T (p.Ala90Val) http://identifiers.org/clinvar/92849 ^@ NM_000328.2(RPGR):c.1164G>A (p.Ala388=) http://identifiers.org/clinvar/92850 ^@ NM_000328.2(RPGR):c.1367A>G (p.Gln456Arg) http://identifiers.org/clinvar/92851 ^@ NM_000328.2(RPGR):c.155-2A>G http://identifiers.org/clinvar/92852 ^@ NM_000328.2(RPGR):c.1572+11A>G http://identifiers.org/clinvar/92853 ^@ NM_000328.2(RPGR):c.1579_1581delCAA (p.Gln527del) http://identifiers.org/clinvar/92854 ^@ NM_000328.2(RPGR):c.1598C>T (p.Thr533Met) http://identifiers.org/clinvar/92855 ^@ NM_000328.2(RPGR):c.1697G>A (p.Gly566Glu) http://identifiers.org/clinvar/92856 ^@ NM_000328.2(RPGR):c.29-15G>A http://identifiers.org/clinvar/92857 ^@ NM_000328.2(RPGR):c.505G>T (p.Glu169Ter) http://identifiers.org/clinvar/92858 ^@ NM_000328.2(RPGR):c.806G>A (p.Gly269Glu) http://identifiers.org/clinvar/92859 ^@ NM_000329.2(RPE65):c.881A>C (p.Lys294Thr) http://identifiers.org/clinvar/92860 ^@ NM_000329.2(RPE65):c.963T>G (p.Asn321Lys) http://identifiers.org/clinvar/92861 ^@ NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) http://identifiers.org/clinvar/92862 ^@ NM_000334.4(SCN4A):c.3774+8G>A http://identifiers.org/clinvar/92863 ^@ NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) http://identifiers.org/clinvar/92864 ^@ NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) http://identifiers.org/clinvar/92865 ^@ NM_000350.2(ABCA4):c.2782G>T (p.Gly928Trp) http://identifiers.org/clinvar/92866 ^@ NM_000350.2(ABCA4):c.2869C>A (p.Gln957Lys) http://identifiers.org/clinvar/92867 ^@ NM_000350.2(ABCA4):c.3322C>T (p.Arg1108Cys) http://identifiers.org/clinvar/92868 ^@ NM_000350.2(ABCA4):c.4401C>T (p.Ser1467=) http://identifiers.org/clinvar/92869 ^@ NM_000350.2(ABCA4):c.4540-2A>G http://identifiers.org/clinvar/92870 ^@ NM_000350.2(ABCA4):c.5461-10T>C http://identifiers.org/clinvar/92871 ^@ NM_000350.2(ABCA4):c.67-2A>G http://identifiers.org/clinvar/92872 ^@ NM_000370.3(TTPA):c.359-3delT http://identifiers.org/clinvar/92873 ^@ NM_000381.3(MID1):c.1230C>T (p.Ser410=) http://identifiers.org/clinvar/92874 ^@ NM_033290.3(MID1):c.1299G>A (p.Ser433=) http://identifiers.org/clinvar/92875 ^@ NM_033290.3(MID1):c.1663A>C (p.Ile555Leu) http://identifiers.org/clinvar/92876 ^@ NM_033290.3(MID1):c.1798dupC (p.His600Profs) http://identifiers.org/clinvar/92877 ^@ NM_033290.3(MID1):c.1988C>T (p.Thr663Ile) http://identifiers.org/clinvar/92878 ^@ NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) http://identifiers.org/clinvar/92879 ^@ NM_000381.3(MID1):c.498G>A (p.Pro166=) http://identifiers.org/clinvar/92880 ^@ NM_033290.3(MID1):c.783delA (p.Lys261Asnfs) http://identifiers.org/clinvar/92881 ^@ NM_033290.3(MID1):c.861G>A (p.Gly287=) http://identifiers.org/clinvar/92882 ^@ NM_033290.3(MID1):c.947C>A (p.Ala316Glu) http://identifiers.org/clinvar/92883 ^@ NM_000387.5(SLC25A20):c.536-18T>C http://identifiers.org/clinvar/92884 ^@ NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) http://identifiers.org/clinvar/92885 ^@ NM_000391.3(TPP1):c.840G>C (p.Leu280=) http://identifiers.org/clinvar/92886 ^@ NM_001008216.1(GALE):c.205G>A (p.Asp69Asn) http://identifiers.org/clinvar/92887 ^@ NM_001008216.1(GALE):c.436G>A (p.Glu146Lys) http://identifiers.org/clinvar/92888 ^@ NM_000403.3(GALE):c.709+14C>G http://identifiers.org/clinvar/92889 ^@ NM_000403.3(GALE):c.873+13G>A http://identifiers.org/clinvar/92890 ^@ NM_001008216.1(GALE):c.873+20C>T http://identifiers.org/clinvar/92891 ^@ NM_000403.3(GALE):c.912G>A (p.Val304=) http://identifiers.org/clinvar/92892 ^@ NM_000404.3(GLB1):c.1004C>T (p.Ala335Val) http://identifiers.org/clinvar/92893 ^@ NM_000404.3(GLB1):c.1174_1175delCT (p.Leu392Valfs) http://identifiers.org/clinvar/92894 ^@ NM_000404.3(GLB1):c.1233+8T>C http://identifiers.org/clinvar/92895 ^@ NM_001135602.2(GLB1):c.913C>T (p.Leu305Phe) http://identifiers.org/clinvar/92896 ^@ NM_000404.3(GLB1):c.1310A>T (p.Asn437Ile) http://identifiers.org/clinvar/92897 ^@ NM_000404.3(GLB1):c.1426C>T (p.Leu476=) http://identifiers.org/clinvar/92898 ^@ NM_000404.3(GLB1):c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) http://identifiers.org/clinvar/92899 ^@ NM_000404.3(GLB1):c.1594A>G (p.Ser532Gly) http://identifiers.org/clinvar/92900 ^@ NM_000404.3(GLB1):c.171C>G (p.Tyr57Ter) http://identifiers.org/clinvar/92901 ^@ NM_000404.3(GLB1):c.1769G>A (p.Arg590His) http://identifiers.org/clinvar/92902 ^@ NM_000404.3(GLB1):c.1824G>C (p.Leu608=) http://identifiers.org/clinvar/92903 ^@ NM_000404.3(GLB1):c.1918G>T (p.Asp640Tyr) http://identifiers.org/clinvar/92904 ^@ NM_000404.3(GLB1):c.29C>T (p.Pro10Leu) http://identifiers.org/clinvar/92905 ^@ NM_000404.3(GLB1):c.34T>C (p.Leu12=) http://identifiers.org/clinvar/92906 ^@ NM_000404.3(GLB1):c.397-1G>A http://identifiers.org/clinvar/92907 ^@ NM_000404.3(GLB1):c.442C>T (p.Arg148Cys) http://identifiers.org/clinvar/92908 ^@ NM_000404.3(GLB1):c.457+2T>C http://identifiers.org/clinvar/92909 ^@ NM_000404.3(GLB1):c.458-11T>C http://identifiers.org/clinvar/92910 ^@ NM_000404.3(GLB1):c.481T>G (p.Trp161Gly) http://identifiers.org/clinvar/92911 ^@ NM_000404.3(GLB1):c.51dupT (p.Leu18Serfs) http://identifiers.org/clinvar/92912 ^@ NM_000404.3(GLB1):c.734-8A>G http://identifiers.org/clinvar/92913 ^@ NM_000404.3(GLB1):c.75+1G>C http://identifiers.org/clinvar/92914 ^@ NM_000404.3(GLB1):c.792+10G>T http://identifiers.org/clinvar/92915 ^@ NM_000411.6(HLCS):c.1179+7delT http://identifiers.org/clinvar/92916 ^@ NM_000411.6(HLCS):c.834C>T (p.Ser278=) http://identifiers.org/clinvar/92917 ^@ NM_000425.4(L1CAM):c.1021A>C (p.Ser341Arg) http://identifiers.org/clinvar/92918 ^@ NM_000425.4(L1CAM):c.1268-10C>T http://identifiers.org/clinvar/92919 ^@ NM_000425.4(L1CAM):c.1704-14C>T http://identifiers.org/clinvar/92920 ^@ NM_000425.4(L1CAM):c.1880C>T (p.Thr627Met) http://identifiers.org/clinvar/92921 ^@ NM_000425.4(L1CAM):c.197+17G>A http://identifiers.org/clinvar/92922 ^@ NM_000425.4(L1CAM):c.2137+5_2137+6insGCAGGTGTG http://identifiers.org/clinvar/92923 ^@ NM_000425.4(L1CAM):c.2209-6C>T http://identifiers.org/clinvar/92924 ^@ NM_000425.4(L1CAM):c.2302G>A (p.Val768Ile) http://identifiers.org/clinvar/92925 ^@ NM_000425.4(L1CAM):c.2307C>T (p.Ser769=) http://identifiers.org/clinvar/92926 ^@ NM_000425.4(L1CAM):c.23delT (p.Val8Glyfs) http://identifiers.org/clinvar/92927 ^@ NM_000425.4(L1CAM):c.2872+9G>A http://identifiers.org/clinvar/92928 ^@ NM_000425.4(L1CAM):c.2872C>G (p.Leu958Val) http://identifiers.org/clinvar/92929 ^@ NM_000425.4(L1CAM):c.2879delA (p.Glu960Glyfs) http://identifiers.org/clinvar/92930 ^@ NM_000425.4(L1CAM):c.28C>T (p.Pro10Ser) http://identifiers.org/clinvar/92931 ^@ NM_000425.4(L1CAM):c.3014T>C (p.Ile1005Thr) http://identifiers.org/clinvar/92932 ^@ NM_000425.4(L1CAM):c.3081G>A (p.Ala1027=) http://identifiers.org/clinvar/92933 ^@ NM_000425.4(L1CAM):c.630C>T (p.His210=) http://identifiers.org/clinvar/92934 ^@ NM_000425.4(L1CAM):c.720G>A (p.Pro240=) http://identifiers.org/clinvar/92935 ^@ NM_000425.4(L1CAM):c.860G>A (p.Arg287His) http://identifiers.org/clinvar/92936 ^@ NM_000426.3(LAMA2):c.101A>G (p.His34Arg) http://identifiers.org/clinvar/92937 ^@ NM_000426.3(LAMA2):c.112+1G>A http://identifiers.org/clinvar/92938 ^@ NM_000426.3(LAMA2):c.156C>T (p.Ile52=) http://identifiers.org/clinvar/92939 ^@ NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) http://identifiers.org/clinvar/92940 ^@ NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) http://identifiers.org/clinvar/92941 ^@ NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) http://identifiers.org/clinvar/92942 ^@ NM_000426.3(LAMA2):c.184G>T (p.Gly62Ter) http://identifiers.org/clinvar/92943 ^@ NM_000426.3(LAMA2):c.1856G>A (p.Arg619His) http://identifiers.org/clinvar/92944 ^@ NM_000426.3(LAMA2):c.2037G>C (p.Ala679=) http://identifiers.org/clinvar/92945 ^@ NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) http://identifiers.org/clinvar/92946 ^@ NM_000426.3(LAMA2):c.2375T>C (p.Phe792Ser) http://identifiers.org/clinvar/92947 ^@ NM_000426.3(LAMA2):c.2750-1G>C http://identifiers.org/clinvar/92948 ^@ NM_000426.3(LAMA2):c.2756G>T (p.Arg919Leu) http://identifiers.org/clinvar/92949 ^@ NM_000426.3(LAMA2):c.2799A>G (p.Gln933=) http://identifiers.org/clinvar/92950 ^@ NM_000426.3(LAMA2):c.2962C>T (p.Gln988Ter) http://identifiers.org/clinvar/92951 ^@ NM_000426.3(LAMA2):c.3411+13G>A http://identifiers.org/clinvar/92952 ^@ NM_000426.3(LAMA2):c.3412G>A (p.Val1138Met) http://identifiers.org/clinvar/92953 ^@ NM_000426.3(LAMA2):c.3556-15T>G http://identifiers.org/clinvar/92954 ^@ NM_000426.3(LAMA2):c.3630delT (p.Ile1210Metfs) http://identifiers.org/clinvar/92955 ^@ NM_000426.3(LAMA2):c.381C>A (p.Thr127=) http://identifiers.org/clinvar/92956 ^@ NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter) http://identifiers.org/clinvar/92957 ^@ NM_000426.3(LAMA2):c.4312-19_4312-17delTCT http://identifiers.org/clinvar/92958 ^@ NM_000426.3(LAMA2):c.4437-5T>A http://identifiers.org/clinvar/92959 ^@ NM_000426.3(LAMA2):c.4470C>T (p.Asp1490=) http://identifiers.org/clinvar/92960 ^@ NM_000426.3(LAMA2):c.4523+19C>T http://identifiers.org/clinvar/92961 ^@ NM_000426.3(LAMA2):c.4523+1G>A http://identifiers.org/clinvar/92962 ^@ NM_000426.3(LAMA2):c.4750G>A (p.Gly1584Ser) http://identifiers.org/clinvar/92963 ^@ NM_000426.3(LAMA2):c.4956C>G (p.Thr1652=) http://identifiers.org/clinvar/92964 ^@ NM_000426.3(LAMA2):c.5050G>T (p.Glu1684Ter) http://identifiers.org/clinvar/92965 ^@ NM_000426.3(LAMA2):c.5072-6delC http://identifiers.org/clinvar/92966 ^@ NM_000426.3(LAMA2):c.5466A>G (p.Glu1822=) http://identifiers.org/clinvar/92967 ^@ NM_000426.3(LAMA2):c.5502G>A (p.Glu1834=) http://identifiers.org/clinvar/92968 ^@ NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) http://identifiers.org/clinvar/92969 ^@ NM_000426.3(LAMA2):c.5633C>T (p.Ser1878Phe) http://identifiers.org/clinvar/92970 ^@ NM_000426.3(LAMA2):c.5706_5712delCTCATCT (p.Asp1902Glufs) http://identifiers.org/clinvar/92971 ^@ NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter) http://identifiers.org/clinvar/92972 ^@ NM_000426.3(LAMA2):c.6011delA (p.Asn2004Metfs) http://identifiers.org/clinvar/92973 ^@ NM_000426.3(LAMA2):c.6038delT (p.Leu2013Terfs) http://identifiers.org/clinvar/92974 ^@ NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) http://identifiers.org/clinvar/92975 ^@ NM_000426.3(LAMA2):c.6237G>A (p.Thr2079=) http://identifiers.org/clinvar/92976 ^@ NM_000426.3(LAMA2):c.6322C>T (p.Arg2108Trp) http://identifiers.org/clinvar/92977 ^@ NM_000426.3(LAMA2):c.6551T>C (p.Phe2184Ser) http://identifiers.org/clinvar/92978 ^@ NM_000426.3(LAMA2):c.6563G>A (p.Ser2188Asn) http://identifiers.org/clinvar/92979 ^@ NM_000426.3(LAMA2):c.6786G>A (p.Ser2262=) http://identifiers.org/clinvar/92980 ^@ NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter) http://identifiers.org/clinvar/92981 ^@ NM_000426.3(LAMA2):c.7111T>G (p.Phe2371Val) http://identifiers.org/clinvar/92982 ^@ NM_000426.3(LAMA2):c.713C>A (p.Ala238Asp) http://identifiers.org/clinvar/92983 ^@ NM_000426.3(LAMA2):c.7279_7280delCT (p.Leu2427Valfs) http://identifiers.org/clinvar/92984 ^@ NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) http://identifiers.org/clinvar/92985 ^@ NM_000426.3(LAMA2):c.7440-20delT http://identifiers.org/clinvar/92986 ^@ NM_000426.3(LAMA2):c.7536delC (p.Asp2513Ilefs) http://identifiers.org/clinvar/92987 ^@ NM_000426.3(LAMA2):c.7830G>C (p.Val2610=) http://identifiers.org/clinvar/92988 ^@ NM_000426.3(LAMA2):c.7845G>A (p.Pro2615=) http://identifiers.org/clinvar/92989 ^@ NM_000426.3(LAMA2):c.7906A>G (p.Thr2636Ala) http://identifiers.org/clinvar/92990 ^@ NM_000426.3(LAMA2):c.830C>T (p.Ser277Leu) http://identifiers.org/clinvar/92991 ^@ NM_000426.3(LAMA2):c.8548-10T>C http://identifiers.org/clinvar/92992 ^@ NM_000426.3(LAMA2):c.8556_8558delAAT (p.Ile2852del) http://identifiers.org/clinvar/92993 ^@ NM_000426.3(LAMA2):c.8692A>C (p.Arg2898=) http://identifiers.org/clinvar/92994 ^@ NM_000426.3(LAMA2):c.9101_9104dupAACA (p.His3035Glnfs) http://identifiers.org/clinvar/92995 ^@ NM_000426.3(LAMA2):c.9212-1G>A http://identifiers.org/clinvar/92996 ^@ NM_000430.3(PAFAH1B1):c.1059T>C (p.Ile353=) http://identifiers.org/clinvar/92997 ^@ NM_000430.3(PAFAH1B1):c.38G>A (p.Arg13Gln) http://identifiers.org/clinvar/92998 ^@ NM_000430.3(PAFAH1B1):c.474C>T (p.Phe158=) http://identifiers.org/clinvar/92999 ^@ NM_000430.3(PAFAH1B1):c.672-10A>C http://identifiers.org/clinvar/93000 ^@ NM_000430.3(PAFAH1B1):c.780A>G (p.Val260=) http://identifiers.org/clinvar/93001 ^@ NM_000434.3(NEU1):c.544A>C (p.Ser182Arg) http://identifiers.org/clinvar/93002 ^@ NM_000436.3(OXCT1):c.-5C>G http://identifiers.org/clinvar/93003 ^@ NM_000436.3(OXCT1):c.1491C>T (p.Asp497=) http://identifiers.org/clinvar/93004 ^@ NM_000436.3(OXCT1):c.414+7A>C http://identifiers.org/clinvar/93005 ^@ NM_000436.3(OXCT1):c.415G>A (p.Gly139Ser) http://identifiers.org/clinvar/93006 ^@ NM_000436.3(OXCT1):c.480G>A (p.Gly160=) http://identifiers.org/clinvar/93007 ^@ NM_000436.3(OXCT1):c.677G>T (p.Ser226Ile) http://identifiers.org/clinvar/93008 ^@ NM_000436.3(OXCT1):c.78+14dupG http://identifiers.org/clinvar/93009 ^@ NM_000440.2(PDE6A):c.1476A>C (p.Gln492His) http://identifiers.org/clinvar/93010 ^@ NM_000440.2(PDE6A):c.1963C>T (p.His655Tyr) http://identifiers.org/clinvar/93011 ^@ NM_000440.2(PDE6A):c.594G>A (p.Val198=) http://identifiers.org/clinvar/93012 ^@ NM_000445.4(PLEC):c.*10C>T http://identifiers.org/clinvar/93013 ^@ NM_000445.4(PLEC):c.*19C>T http://identifiers.org/clinvar/93014 ^@ NM_000445.4(PLEC):c.10006C>T (p.Arg3336Cys) http://identifiers.org/clinvar/93015 ^@ NM_000445.4(PLEC):c.10026C>T (p.Ser3342=) http://identifiers.org/clinvar/93016 ^@ NM_000445.4(PLEC):c.1027-6T>C http://identifiers.org/clinvar/93017 ^@ NM_000445.4(PLEC):c.10498G>A (p.Gly3500Ser) http://identifiers.org/clinvar/93018 ^@ NM_000445.4(PLEC):c.10693T>C (p.Leu3565=) http://identifiers.org/clinvar/93019 ^@ NM_000445.4(PLEC):c.10737G>A (p.Val3579=) http://identifiers.org/clinvar/93020 ^@ NM_000445.4(PLEC):c.10746G>A (p.Thr3582=) http://identifiers.org/clinvar/93021 ^@ NM_000445.4(PLEC):c.10840C>T (p.Leu3614=) http://identifiers.org/clinvar/93022 ^@ NM_000445.4(PLEC):c.11208T>C (p.Ala3736=) http://identifiers.org/clinvar/93023 ^@ NM_000445.4(PLEC):c.11709A>G (p.Pro3903=) http://identifiers.org/clinvar/93024 ^@ NM_000445.4(PLEC):c.11966C>T (p.Thr3989Ile) http://identifiers.org/clinvar/93025 ^@ NM_000445.4(PLEC):c.11967A>G (p.Thr3989=) http://identifiers.org/clinvar/93026 ^@ NM_000445.4(PLEC):c.12021C>T (p.Ile4007=) http://identifiers.org/clinvar/93027 ^@ NM_000445.4(PLEC):c.12075C>T (p.Pro4025=) http://identifiers.org/clinvar/93028 ^@ NM_000445.4(PLEC):c.12642C>T (p.Asp4214=) http://identifiers.org/clinvar/93029 ^@ NM_000445.4(PLEC):c.12865G>A (p.Val4289Ile) http://identifiers.org/clinvar/93030 ^@ NM_000445.4(PLEC):c.12894A>G (p.Ser4298=) http://identifiers.org/clinvar/93031 ^@ NM_000445.4(PLEC):c.13191C>T (p.Ala4397=) http://identifiers.org/clinvar/93032 ^@ NM_000445.4(PLEC):c.13483G>A (p.Ala4495Thr) http://identifiers.org/clinvar/93033 ^@ NM_000445.4(PLEC):c.13542T>C (p.Ala4514=) http://identifiers.org/clinvar/93034 ^@ NM_000445.4(PLEC):c.1896+10G>A http://identifiers.org/clinvar/93035 ^@ NM_000445.4(PLEC):c.1896+13A>G http://identifiers.org/clinvar/93036 ^@ NM_000445.4(PLEC):c.2259+9C>G http://identifiers.org/clinvar/93037 ^@ NM_000445.4(PLEC):c.2344G>A (p.Ala782Thr) http://identifiers.org/clinvar/93038 ^@ NM_000445.4(PLEC):c.2385+13dupG http://identifiers.org/clinvar/93039 ^@ NM_000445.4(PLEC):c.2386-10delT http://identifiers.org/clinvar/93040 ^@ NM_000445.4(PLEC):c.3192C>T (p.Gly1064=) http://identifiers.org/clinvar/93041 ^@ NM_000445.4(PLEC):c.3342-13G>A http://identifiers.org/clinvar/93042 ^@ NM_000445.4(PLEC):c.3432C>T (p.Ala1144=) http://identifiers.org/clinvar/93043 ^@ NM_000445.4(PLEC):c.3459G>A (p.Glu1153=) http://identifiers.org/clinvar/93044 ^@ NM_000445.4(PLEC):c.3631T>C (p.Leu1211=) http://identifiers.org/clinvar/93045 ^@ NM_000445.4(PLEC):c.3763C>T (p.Arg1255Trp) http://identifiers.org/clinvar/93046 ^@ NM_000445.4(PLEC):c.3827G>A (p.Arg1276Gln) http://identifiers.org/clinvar/93047 ^@ NM_000445.4(PLEC):c.3838-6A>G http://identifiers.org/clinvar/93048 ^@ NM_000445.4(PLEC):c.3838-9A>G http://identifiers.org/clinvar/93049 ^@ NM_000445.4(PLEC):c.4126-4A>G http://identifiers.org/clinvar/93050 ^@ NM_000445.4(PLEC):c.4494T>C (p.Ala1498=) http://identifiers.org/clinvar/93051 ^@ NM_000445.4(PLEC):c.4536T>G (p.Ala1512=) http://identifiers.org/clinvar/93052 ^@ NM_000445.4(PLEC):c.4557G>A (p.Ala1519=) http://identifiers.org/clinvar/93053 ^@ NM_000445.4(PLEC):c.4637C>T (p.Ser1546Leu) http://identifiers.org/clinvar/93054 ^@ NM_000445.4(PLEC):c.4638G>A (p.Ser1546=) http://identifiers.org/clinvar/93055 ^@ NM_000445.4(PLEC):c.4725G>A (p.Ala1575=) http://identifiers.org/clinvar/93056 ^@ NM_000445.4(PLEC):c.4761G>A (p.Ala1587=) http://identifiers.org/clinvar/93057 ^@ NM_000445.4(PLEC):c.4788G>A (p.Thr1596=) http://identifiers.org/clinvar/93058 ^@ NM_000445.4(PLEC):c.5163G>A (p.Leu1721=) http://identifiers.org/clinvar/93059 ^@ NM_000445.4(PLEC):c.5246C>T (p.Thr1749Met) http://identifiers.org/clinvar/93060 ^@ NM_000445.4(PLEC):c.5310G>A (p.Ala1770=) http://identifiers.org/clinvar/93061 ^@ NM_000445.4(PLEC):c.546G>A (p.Ser182=) http://identifiers.org/clinvar/93062 ^@ NM_000445.4(PLEC):c.5524C>T (p.Arg1842Trp) http://identifiers.org/clinvar/93063 ^@ NM_000445.4(PLEC):c.5558G>A (p.Arg1853Gln) http://identifiers.org/clinvar/93064 ^@ NM_000445.4(PLEC):c.5664G>A (p.Ala1888=) http://identifiers.org/clinvar/93065 ^@ NM_000445.4(PLEC):c.5754C>T (p.Ile1918=) http://identifiers.org/clinvar/93066 ^@ NM_000445.4(PLEC):c.5946G>A (p.Ala1982=) http://identifiers.org/clinvar/93067 ^@ NM_000445.4(PLEC):c.5988T>C (p.Ala1996=) http://identifiers.org/clinvar/93068 ^@ NM_000445.4(PLEC):c.6009G>A (p.Ala2003=) http://identifiers.org/clinvar/93069 ^@ NM_000445.4(PLEC):c.6011C>T (p.Ala2004Val) http://identifiers.org/clinvar/93070 ^@ NM_000445.4(PLEC):c.6150C>G (p.Arg2050=) http://identifiers.org/clinvar/93071 ^@ NM_000445.4(PLEC):c.6251C>T (p.Ala2084Val) http://identifiers.org/clinvar/93072 ^@ NM_000445.4(PLEC):c.6395C>T (p.Ala2132Val) http://identifiers.org/clinvar/93073 ^@ NM_000445.4(PLEC):c.6522G>A (p.Ala2174=) http://identifiers.org/clinvar/93074 ^@ NM_000445.4(PLEC):c.6594G>A (p.Lys2198=) http://identifiers.org/clinvar/93075 ^@ NM_000445.4(PLEC):c.6658C>T (p.Leu2220=) http://identifiers.org/clinvar/93076 ^@ NM_000445.4(PLEC):c.6838G>A (p.Ala2280Thr) http://identifiers.org/clinvar/93077 ^@ NM_000445.4(PLEC):c.7155G>A (p.Ala2385=) http://identifiers.org/clinvar/93078 ^@ NM_000445.4(PLEC):c.7662A>C (p.Ala2554=) http://identifiers.org/clinvar/93079 ^@ NM_000445.4(PLEC):c.7902C>T (p.Ala2634=) http://identifiers.org/clinvar/93080 ^@ NM_000445.4(PLEC):c.7959G>A (p.Leu2653=) http://identifiers.org/clinvar/93081 ^@ NM_000445.4(PLEC):c.7961C>G (p.Pro2654Arg) http://identifiers.org/clinvar/93082 ^@ NM_000445.4(PLEC):c.799+10C>T http://identifiers.org/clinvar/93083 ^@ NM_000445.4(PLEC):c.8041T>C (p.Ser2681Pro) http://identifiers.org/clinvar/93084 ^@ NM_000445.4(PLEC):c.8334C>T (p.Asn2778=) http://identifiers.org/clinvar/93085 ^@ NM_000445.4(PLEC):c.8511C>G (p.Ile2837Met) http://identifiers.org/clinvar/93086 ^@ NM_000445.4(PLEC):c.8526T>C (p.Val2842=) http://identifiers.org/clinvar/93087 ^@ NM_000445.4(PLEC):c.8576G>A (p.Arg2859His) http://identifiers.org/clinvar/93088 ^@ NM_000445.4(PLEC):c.9154G>A (p.Val3052Ile) http://identifiers.org/clinvar/93089 ^@ NM_000445.4(PLEC):c.9182C>T (p.Ala3061Val) http://identifiers.org/clinvar/93090 ^@ NM_000445.4(PLEC):c.935G>A (p.Arg312Gln) http://identifiers.org/clinvar/93091 ^@ NM_000445.4(PLEC):c.9858T>A (p.Ser3286=) http://identifiers.org/clinvar/93092 ^@ NM_000451.3(SHOX):c.277+17T>G http://identifiers.org/clinvar/93094 ^@ NM_000451.3(SHOX):c.829G>A (p.Ala277Thr) http://identifiers.org/clinvar/93095 ^@ NM_000451.3(SHOX):c.86A>C (p.Lys29Thr) http://identifiers.org/clinvar/93096 ^@ NM_000455.4(STK11):c.169dupG (p.Glu57Glyfs) http://identifiers.org/clinvar/93097 ^@ NM_000455.4(STK11):c.264C>A (p.Ile88=) http://identifiers.org/clinvar/93098 ^@ NM_000455.4(STK11):c.877G>T (p.Glu293Ter) http://identifiers.org/clinvar/93099 ^@ NM_000455.4(STK11):c.920+7G>C http://identifiers.org/clinvar/93100 ^@ NM_000455.4(STK11):c.921-1G>T http://identifiers.org/clinvar/93101 ^@ NM_000466.2(PEX1):c.1187A>G (p.Asn396Ser) http://identifiers.org/clinvar/93102 ^@ NM_000466.2(PEX1):c.1952_1960dupCAGTGTGGA (p.Trp653_Met654insThrValTrp) http://identifiers.org/clinvar/93104 ^@ NM_000466.2(PEX1):c.2230C>T (p.Gln744Ter) http://identifiers.org/clinvar/93105 ^@ NM_000466.2(PEX1):c.2331C>A (p.Gly777=) http://identifiers.org/clinvar/93106 ^@ NM_000466.2(PEX1):c.2442C>T (p.Phe814=) http://identifiers.org/clinvar/93107 ^@ NM_000466.2(PEX1):c.2584-20T>A http://identifiers.org/clinvar/93108 ^@ NM_000466.2(PEX1):c.2792C>A (p.Ala931Asp) http://identifiers.org/clinvar/93109 ^@ NM_000466.2(PEX1):c.2901G>A (p.Gln967=) http://identifiers.org/clinvar/93110 ^@ NM_000466.2(PEX1):c.3022_3024delCCT (p.Pro1008del) http://identifiers.org/clinvar/93111 ^@ NM_000466.2(PEX1):c.330C>G (p.Pro110=) http://identifiers.org/clinvar/93112 ^@ NM_000466.2(PEX1):c.358-15G>A http://identifiers.org/clinvar/93113 ^@ NM_000466.2(PEX1):c.3714T>C (p.Leu1238=) http://identifiers.org/clinvar/93114 ^@ NM_000466.2(PEX1):c.674T>A (p.Ile225Asn) http://identifiers.org/clinvar/93115 ^@ NM_000487.5(ARSA):c.1108-2A>G http://identifiers.org/clinvar/93116 ^@ NM_000487.5(ARSA):c.1125_1126delCT (p.Phe376Leufs) http://identifiers.org/clinvar/93117 ^@ NM_000487.5(ARSA):c.1149C>T (p.Asp383=) http://identifiers.org/clinvar/93118 ^@ NM_000487.5(ARSA):c.1210+20C>G http://identifiers.org/clinvar/93119 ^@ NM_000487.5(ARSA):c.1211-10C>T http://identifiers.org/clinvar/93120 ^@ NM_000487.5(ARSA):c.1493G>A (p.Arg498His) http://identifiers.org/clinvar/93121 ^@ NM_000487.5(ARSA):c.195delC (p.Tyr65Terfs) http://identifiers.org/clinvar/93122 ^@ NM_000487.5(ARSA):c.34delG (p.Ala12Profs) http://identifiers.org/clinvar/93123 ^@ NM_000487.5(ARSA):c.459C>T (p.His153=) http://identifiers.org/clinvar/93124 ^@ NM_000487.5(ARSA):c.583delT (p.Trp195Glyfs) http://identifiers.org/clinvar/93125 ^@ NM_000487.5(ARSA):c.585G>T (p.Trp195Cys) http://identifiers.org/clinvar/93126 ^@ NM_000487.5(ARSA):c.636C>T (p.Ala212=) http://identifiers.org/clinvar/93127 ^@ NM_000487.5(ARSA):c.685-7C>A http://identifiers.org/clinvar/93128 ^@ NM_000487.5(ARSA):c.986C>T (p.Thr329Ile) http://identifiers.org/clinvar/93129 ^@ NM_000487.5(ARSA):c.991G>T (p.Glu331Ter) http://identifiers.org/clinvar/93130 ^@ NM_000489.4(ATRX):c.134-2A>G http://identifiers.org/clinvar/93131 ^@ NM_000489.4(ATRX):c.1522A>C (p.Asn508His) http://identifiers.org/clinvar/93132 ^@ NM_000489.4(ATRX):c.1633C>G (p.Gln545Glu) http://identifiers.org/clinvar/93133 ^@ NM_000489.4(ATRX):c.189+1G>A http://identifiers.org/clinvar/93134 ^@ NM_000489.4(ATRX):c.2595C>G (p.His865Gln) http://identifiers.org/clinvar/93135 ^@ NM_000489.4(ATRX):c.2785G= (p.Glu929=) http://identifiers.org/clinvar/93136 ^@ NM_000489.4(ATRX):c.288A>G (p.Lys96=) http://identifiers.org/clinvar/93137 ^@ NM_000489.4(ATRX):c.4377_4379delGGA (p.Glu1464del) http://identifiers.org/clinvar/93138 ^@ NM_000489.4(ATRX):c.4635C>A (p.Thr1545=) http://identifiers.org/clinvar/93139 ^@ NM_000489.4(ATRX):c.463_474delGAAAATCTCAAAinsT (p.Glu155Terfs) http://identifiers.org/clinvar/93140 ^@ NM_000489.4(ATRX):c.4659T>C (p.His1553=) http://identifiers.org/clinvar/93141 ^@ NM_000489.4(ATRX):c.536A>G (p.Asn179Ser) http://identifiers.org/clinvar/93142 ^@ NM_000489.4(ATRX):c.570T>G (p.Pro190=) http://identifiers.org/clinvar/93143 ^@ NM_000489.4(ATRX):c.5787-20G>T http://identifiers.org/clinvar/93144 ^@ NM_000489.4(ATRX):c.5884T>A (p.Ser1962Thr) http://identifiers.org/clinvar/93145 ^@ NM_000489.4(ATRX):c.5968T>A (p.Ser1990Thr) http://identifiers.org/clinvar/93146 ^@ NM_000489.4(ATRX):c.6777C>G (p.Asp2259Glu) http://identifiers.org/clinvar/93147 ^@ NM_000489.4(ATRX):c.7394delG (p.Gly2465Valfs) http://identifiers.org/clinvar/93148 ^@ NM_000492.3(CFTR):c.-8G>C http://identifiers.org/clinvar/93150 ^@ NM_000492.3(CFTR):c.2769C>T (p.Ala923=) http://identifiers.org/clinvar/93151 ^@ NM_000492.3(CFTR):c.2820T>G (p.Thr940=) http://identifiers.org/clinvar/93152 ^@ NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) http://identifiers.org/clinvar/93153 ^@ NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) http://identifiers.org/clinvar/93154 ^@ NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) http://identifiers.org/clinvar/93155 ^@ NM_000492.3(CFTR):c.4242+13A>G http://identifiers.org/clinvar/93156 ^@ NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) http://identifiers.org/clinvar/93157 ^@ NM_000492.3(CFTR):c.4389G>A (p.Gln1463=) http://identifiers.org/clinvar/93159 ^@ NM_000492.3(CFTR):c.869+11C>T http://identifiers.org/clinvar/93160 ^@ NM_000500.7(CYP21A2):c.29_31delTGC (p.Leu10del) http://identifiers.org/clinvar/93161 ^@ NM_000512.4(GALNS):c.1002+17C>T http://identifiers.org/clinvar/93162 ^@ NM_000512.4(GALNS):c.1171A>G (p.Met391Val) http://identifiers.org/clinvar/93163 ^@ NM_000512.4(GALNS):c.1175C>T (p.Ala392Val) http://identifiers.org/clinvar/93164 ^@ NM_000512.4(GALNS):c.1176G>A (p.Ala392=) http://identifiers.org/clinvar/93165 ^@ NM_000512.4(GALNS):c.1177G>T (p.Ala393Ser) http://identifiers.org/clinvar/93166 ^@ NM_000512.4(GALNS):c.1354T>A (p.Phe452Ile) http://identifiers.org/clinvar/93167 ^@ NM_000512.4(GALNS):c.1413C>T (p.Val471=) http://identifiers.org/clinvar/93168 ^@ NM_000512.4(GALNS):c.1431G>A (p.Glu477=) http://identifiers.org/clinvar/93169 ^@ NM_000512.4(GALNS):c.1520G>T (p.Cys507Phe) http://identifiers.org/clinvar/93170 ^@ NM_000512.4(GALNS):c.1558T>C (p.Trp520Arg) http://identifiers.org/clinvar/93171 ^@ NM_000512.4(GALNS):c.1559G>A (p.Trp520Ter) http://identifiers.org/clinvar/93172 ^@ NM_000512.4(GALNS):c.199C>A (p.Leu67Met) http://identifiers.org/clinvar/93173 ^@ NM_000512.4(GALNS):c.218A>G (p.Tyr73Cys) http://identifiers.org/clinvar/93174 ^@ NM_000512.4(GALNS):c.244+19C>T http://identifiers.org/clinvar/93175 ^@ NM_000512.4(GALNS):c.245C>T (p.Ser82Leu) http://identifiers.org/clinvar/93176 ^@ NM_000512.4(GALNS):c.266G>T (p.Gly89Val) http://identifiers.org/clinvar/93178 ^@ NM_000512.4(GALNS):c.463G>A (p.Gly155Arg) http://identifiers.org/clinvar/93179 ^@ NM_000512.4(GALNS):c.477G>A (p.Trp159Ter) http://identifiers.org/clinvar/93180 ^@ NM_000512.4(GALNS):c.510T>C (p.Tyr170=) http://identifiers.org/clinvar/93181 ^@ NM_000512.4(GALNS):c.634-19G>A http://identifiers.org/clinvar/93182 ^@ NM_000512.4(GALNS):c.634-20C>T http://identifiers.org/clinvar/93183 ^@ NM_000512.4(GALNS):c.692C>G (p.Ala231Gly) http://identifiers.org/clinvar/93184 ^@ NM_000512.4(GALNS):c.704C>A (p.Thr235Lys) http://identifiers.org/clinvar/93185 ^@ NM_000512.4(GALNS):c.707A>G (p.His236Arg) http://identifiers.org/clinvar/93186 ^@ NM_000512.4(GALNS):c.708C>T (p.His236=) http://identifiers.org/clinvar/93187 ^@ NM_000512.4(GALNS):c.846C>T (p.Phe282=) http://identifiers.org/clinvar/93188 ^@ NM_000520.5(HEXA):c.1195A>G (p.Asn399Asp) http://identifiers.org/clinvar/93189 ^@ NM_000520.5(HEXA):c.1306A>G (p.Ile436Val) http://identifiers.org/clinvar/93190 ^@ NM_000520.5(HEXA):c.1397A>G (p.Asn466Ser) http://identifiers.org/clinvar/93191 ^@ NM_000520.5(HEXA):c.1518A>G (p.Glu506=) http://identifiers.org/clinvar/93192 ^@ NM_000520.5(HEXA):c.497G>A (p.Arg166His) http://identifiers.org/clinvar/93193 ^@ NM_000520.5(HEXA):c.9C>T (p.Ser3=) http://identifiers.org/clinvar/93194 ^@ NM_000521.3(HEXB):c.115delG (p.Val39Trpfs) http://identifiers.org/clinvar/93195 ^@ NM_000521.3(HEXB):c.1169+3_1169+10delAAGTTGTT http://identifiers.org/clinvar/93196 ^@ NM_000521.3(HEXB):c.1238_1242delCAAAG (p.Lys414Cysfs) http://identifiers.org/clinvar/93197 ^@ NM_000521.3(HEXB):c.1243-2A>G http://identifiers.org/clinvar/93198 ^@ NM_000521.3(HEXB):c.1375G>T (p.Asp459Tyr) http://identifiers.org/clinvar/93199 ^@ NM_000521.3(HEXB):c.1614-14C>A http://identifiers.org/clinvar/93200 ^@ NM_000521.3(HEXB):c.1645G>A (p.Gly549Arg) http://identifiers.org/clinvar/93201 ^@ NM_000521.3(HEXB):c.587A>C (p.Asp196Ala) http://identifiers.org/clinvar/93202 ^@ NM_000521.3(HEXB):c.619A>G (p.Ile207Val) http://identifiers.org/clinvar/93203 ^@ NM_000521.3(HEXB):c.772-4A>G http://identifiers.org/clinvar/93204 ^@ NM_000521.3(HEXB):c.797A>G (p.Tyr266Cys) http://identifiers.org/clinvar/93205 ^@ NM_000521.3(HEXB):c.895G>A (p.Gly299Arg) http://identifiers.org/clinvar/93207 ^@ NM_000528.3(MAN2B1):c.1010G>A (p.Arg337Gln) http://identifiers.org/clinvar/93208 ^@ NM_000528.3(MAN2B1):c.1223T>A (p.Phe408Tyr) http://identifiers.org/clinvar/93209 ^@ NM_000528.3(MAN2B1):c.1224C>A (p.Phe408Leu) http://identifiers.org/clinvar/93210 ^@ NM_000528.3(MAN2B1):c.1441G>T (p.Ala481Ser) http://identifiers.org/clinvar/93211 ^@ NM_000528.3(MAN2B1):c.1707_1708delAC (p.Leu570Alafs) http://identifiers.org/clinvar/93212 ^@ NM_000528.3(MAN2B1):c.1929G>A (p.Trp643Ter) http://identifiers.org/clinvar/93213 ^@ NM_000528.3(MAN2B1):c.2398G>A (p.Gly800Arg) http://identifiers.org/clinvar/93214 ^@ NM_000528.3(MAN2B1):c.2436+2T>C http://identifiers.org/clinvar/93215 ^@ NM_000528.3(MAN2B1):c.2865G>C (p.Thr955=) http://identifiers.org/clinvar/93216 ^@ NM_000528.3(MAN2B1):c.371_373delTCT (p.Phe124del) http://identifiers.org/clinvar/93217 ^@ NM_000528.3(MAN2B1):c.832C>G (p.Leu278Val) http://identifiers.org/clinvar/93218 ^@ NM_000528.3(MAN2B1):c.935C>T (p.Thr312Ile) http://identifiers.org/clinvar/93219 ^@ NM_000531.5(OTC):c.238A>G (p.Lys80Glu) http://identifiers.org/clinvar/93220 ^@ NM_000531.5(OTC):c.299-8T>A http://identifiers.org/clinvar/93221 ^@ NM_000531.5(OTC):c.540+2T>C http://identifiers.org/clinvar/93222 ^@ NM_000531.5(OTC):c.572T>G (p.Leu191Arg) http://identifiers.org/clinvar/93223 ^@ NM_000531.5(OTC):c.718-14T>C http://identifiers.org/clinvar/93224 ^@ NM_000531.5(OTC):c.808C>G (p.Gln270Glu) http://identifiers.org/clinvar/93225 ^@ NM_000531.5(OTC):c.868-3T>C http://identifiers.org/clinvar/93226 ^@ NM_000532.4(PCCB):c.183+1G>A http://identifiers.org/clinvar/93227 ^@ NM_000532.4(PCCB):c.183+3G>C http://identifiers.org/clinvar/93228 ^@ NM_000532.4(PCCB):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/93229 ^@ NM_000532.4(PCCB):c.386_387delTTinsAAC (p.Phe129Terfs) http://identifiers.org/clinvar/93230 ^@ NM_000532.4(PCCB):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/93231 ^@ NM_000532.4(PCCB):c.654+20T>C http://identifiers.org/clinvar/93232 ^@ NM_000533.4(PLP1):c.609T>C (p.Asp203=) http://identifiers.org/clinvar/93233 ^@ NM_001128834.2(PLP1):c.622+5G>A http://identifiers.org/clinvar/93234 ^@ NM_001128834.2(PLP1):c.683G>A (p.Cys228Tyr) http://identifiers.org/clinvar/93235 ^@ NM_001128834.2(PLP1):c.737G>C (p.Gly246Ala) http://identifiers.org/clinvar/93236 ^@ NM_000535.6(PMS2):c.714C>A (p.Ser238Arg) http://identifiers.org/clinvar/93237 ^@ NM_000540.2(RYR1):c.*7C>G http://identifiers.org/clinvar/93238 ^@ NM_000540.2(RYR1):c.10119G>A (p.Val3373=) http://identifiers.org/clinvar/93239 ^@ NM_000540.2(RYR1):c.10188C>T (p.Asp3396=) http://identifiers.org/clinvar/93240 ^@ NM_000540.2(RYR1):c.10218C>T (p.Tyr3406=) http://identifiers.org/clinvar/93241 ^@ NM_000540.2(RYR1):c.10687-10C>T http://identifiers.org/clinvar/93242 ^@ NM_000540.2(RYR1):c.10687-7C>T http://identifiers.org/clinvar/93243 ^@ NM_000540.2(RYR1):c.1077T>C (p.Ala359=) http://identifiers.org/clinvar/93244 ^@ NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) http://identifiers.org/clinvar/93245 ^@ NM_000540.2(RYR1):c.11034+20G>T http://identifiers.org/clinvar/93246 ^@ NM_000540.2(RYR1):c.12629A>G (p.Lys4210Arg) http://identifiers.org/clinvar/93247 ^@ NM_000540.2(RYR1):c.12741C>T (p.Ala4247=) http://identifiers.org/clinvar/93248 ^@ NM_000540.2(RYR1):c.12861_12869dupCACGGCGGC (p.Ala4290_Ala4291insThrAlaAla) http://identifiers.org/clinvar/93249 ^@ NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) http://identifiers.org/clinvar/93250 ^@ NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) http://identifiers.org/clinvar/93251 ^@ NM_000540.2(RYR1):c.13317C>T (p.Ala4439=) http://identifiers.org/clinvar/93252 ^@ NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) http://identifiers.org/clinvar/93253 ^@ NM_000540.2(RYR1):c.13671C>G (p.Ser4557=) http://identifiers.org/clinvar/93254 ^@ NM_000540.2(RYR1):c.14256A>C (p.Thr4752=) http://identifiers.org/clinvar/93255 ^@ NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) http://identifiers.org/clinvar/93256 ^@ NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) http://identifiers.org/clinvar/93257 ^@ NM_000540.2(RYR1):c.14939C>T (p.Thr4980Met) http://identifiers.org/clinvar/93258 ^@ NM_000540.2(RYR1):c.1668G>A (p.Ser556=) http://identifiers.org/clinvar/93259 ^@ NM_000540.2(RYR1):c.2286C>T (p.Pro762=) http://identifiers.org/clinvar/93260 ^@ NM_000540.2(RYR1):c.2871-5C>T http://identifiers.org/clinvar/93261 ^@ NM_000540.2(RYR1):c.2943G>A (p.Thr981=) http://identifiers.org/clinvar/93262 ^@ NM_000540.2(RYR1):c.2979C>T (p.Asn993=) http://identifiers.org/clinvar/93263 ^@ NM_000540.2(RYR1):c.3456C>T (p.Ile1152=) http://identifiers.org/clinvar/93264 ^@ NM_000540.2(RYR1):c.3858T>C (p.Leu1286=) http://identifiers.org/clinvar/93265 ^@ NM_000540.2(RYR1):c.4024A>G (p.Ser1342Gly) http://identifiers.org/clinvar/93266 ^@ NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) http://identifiers.org/clinvar/93267 ^@ NM_000540.2(RYR1):c.4107C>T (p.Pro1369=) http://identifiers.org/clinvar/93268 ^@ NM_000540.2(RYR1):c.4161-6T>C http://identifiers.org/clinvar/93269 ^@ NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) http://identifiers.org/clinvar/93270 ^@ NM_000540.2(RYR1):c.4443C>T (p.Asn1481=) http://identifiers.org/clinvar/93271 ^@ NM_000540.2(RYR1):c.5112C>T (p.Gly1704=) http://identifiers.org/clinvar/93272 ^@ NM_000540.2(RYR1):c.5309C>T (p.Ser1770Leu) http://identifiers.org/clinvar/93273 ^@ NM_000540.2(RYR1):c.5334G>T (p.Ser1778=) http://identifiers.org/clinvar/93274 ^@ NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) http://identifiers.org/clinvar/93275 ^@ NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) http://identifiers.org/clinvar/93276 ^@ NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) http://identifiers.org/clinvar/93277 ^@ NM_000540.2(RYR1):c.594A>G (p.Leu198=) http://identifiers.org/clinvar/93278 ^@ NM_000540.2(RYR1):c.6039A>G (p.Lys2013=) http://identifiers.org/clinvar/93279 ^@ NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) http://identifiers.org/clinvar/93280 ^@ NM_000540.2(RYR1):c.6359T>C (p.Met2120Thr) http://identifiers.org/clinvar/93281 ^@ NM_000540.2(RYR1):c.6384C>T (p.Tyr2128=) http://identifiers.org/clinvar/93282 ^@ NM_000540.2(RYR1):c.6564C>G (p.Asn2188Lys) http://identifiers.org/clinvar/93283 ^@ NM_000540.2(RYR1):c.6645C>T (p.Leu2215=) http://identifiers.org/clinvar/93284 ^@ NM_000540.2(RYR1):c.7089C>T (p.Cys2363=) http://identifiers.org/clinvar/93285 ^@ NM_000540.2(RYR1):c.7098C>T (p.Pro2366=) http://identifiers.org/clinvar/93286 ^@ NM_000540.2(RYR1):c.7323+20C>A http://identifiers.org/clinvar/93287 ^@ NM_000540.2(RYR1):c.7500G>A (p.Ala2500=) http://identifiers.org/clinvar/93288 ^@ NM_000540.2(RYR1):c.7527G>A (p.Val2509=) http://identifiers.org/clinvar/93289 ^@ NM_000540.2(RYR1):c.7614+10C>G http://identifiers.org/clinvar/93290 ^@ NM_000540.2(RYR1):c.7737G>A (p.Val2579=) http://identifiers.org/clinvar/93291 ^@ NM_000540.2(RYR1):c.7771C>G (p.Arg2591Gly) http://identifiers.org/clinvar/93292 ^@ NM_000540.2(RYR1):c.7835+5A>G http://identifiers.org/clinvar/93293 ^@ NM_000540.2(RYR1):c.7835+7C>T http://identifiers.org/clinvar/93294 ^@ NM_000540.2(RYR1):c.7863C>T (p.His2621=) http://identifiers.org/clinvar/93295 ^@ NM_000540.2(RYR1):c.7872C>T (p.Arg2624=) http://identifiers.org/clinvar/93296 ^@ NM_000540.2(RYR1):c.7977G>A (p.Thr2659=) http://identifiers.org/clinvar/93297 ^@ NM_000540.2(RYR1):c.8118T>C (p.Ile2706=) http://identifiers.org/clinvar/93298 ^@ NM_000540.2(RYR1):c.8190T>C (p.Asp2730=) http://identifiers.org/clinvar/93299 ^@ NM_000540.2(RYR1):c.8337G>A (p.Glu2779=) http://identifiers.org/clinvar/93300 ^@ NM_000540.2(RYR1):c.8589T>C (p.Ser2863=) http://identifiers.org/clinvar/93301 ^@ NM_000540.2(RYR1):c.8616+7G>A http://identifiers.org/clinvar/93302 ^@ NM_000540.2(RYR1):c.8693-10G>C http://identifiers.org/clinvar/93303 ^@ NM_000540.2(RYR1):c.8816+17T>A http://identifiers.org/clinvar/93304 ^@ NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) http://identifiers.org/clinvar/93305 ^@ NM_000540.2(RYR1):c.8949T>C (p.Ser2983=) http://identifiers.org/clinvar/93306 ^@ NM_000540.2(RYR1):c.9186A>G (p.Pro3062=) http://identifiers.org/clinvar/93307 ^@ NM_000540.2(RYR1):c.9262G>C (p.Val3088Leu) http://identifiers.org/clinvar/93308 ^@ NM_000540.2(RYR1):c.9690G>A (p.Leu3230=) http://identifiers.org/clinvar/93310 ^@ NM_000543.4(SMPD1):c.1071C>T (p.Ala357=) http://identifiers.org/clinvar/93311 ^@ NM_000543.4(SMPD1):c.107T>C (p.Val36Ala) http://identifiers.org/clinvar/93312 ^@ NM_000543.4(SMPD1):c.1092-1G>C http://identifiers.org/clinvar/93313 ^@ NM_000543.4(SMPD1):c.1299T>G (p.Cys433Trp) http://identifiers.org/clinvar/93314 ^@ NM_000543.4(SMPD1):c.1420_1421delCT (p.Leu474Glufs) http://identifiers.org/clinvar/93315 ^@ NM_000543.4(SMPD1):c.1426C>T (p.Arg476Trp) http://identifiers.org/clinvar/93316 ^@ NM_000543.4(SMPD1):c.1468T>A (p.Tyr490Asn) http://identifiers.org/clinvar/93317 ^@ NM_000543.4(SMPD1):c.1522G>A (p.Gly508Arg) http://identifiers.org/clinvar/93318 ^@ NM_000543.4(SMPD1):c.1624C>T (p.Arg542Ter) http://identifiers.org/clinvar/93319 ^@ NM_000543.4(SMPD1):c.636T>C (p.Asp212=) http://identifiers.org/clinvar/93320 ^@ NM_000543.4(SMPD1):c.757G>C (p.Asp253His) http://identifiers.org/clinvar/93321 ^@ NM_000543.4(SMPD1):c.842_849dupTCCCCGCA (p.His284Serfs) http://identifiers.org/clinvar/93322 ^@ NM_000543.4(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer) http://identifiers.org/clinvar/93323 ^@ NM_000546.5(TP53):c.892G>T (p.Glu298Ter) http://identifiers.org/clinvar/93325 ^@ NM_000546.5(TP53):c.993+12T>C http://identifiers.org/clinvar/93326 ^@ NM_000551.3(VHL):c.233A>G (p.Asn78Ser) http://identifiers.org/clinvar/93327 ^@ NM_000551.3(VHL):c.256C>G (p.Pro86Ala) http://identifiers.org/clinvar/93328 ^@ NM_000551.3(VHL):c.326T>A (p.Ile109Asn) http://identifiers.org/clinvar/93329 ^@ NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168Leufs) http://identifiers.org/clinvar/93330 ^@ NM_000551.3(VHL):c.74C>T (p.Pro25Leu) http://identifiers.org/clinvar/93331 ^@ NM_000686.4(AGTR2):c.121G>A (p.Asp41Asn) http://identifiers.org/clinvar/93332 ^@ NM_000686.4(AGTR2):c.743G>A (p.Arg248Lys) http://identifiers.org/clinvar/93333 ^@ NM_000709.3(BCKDHA):c.*33C>G http://identifiers.org/clinvar/93334 ^@ NM_000709.3(BCKDHA):c.-34T>G http://identifiers.org/clinvar/93335 ^@ NM_000709.3(BCKDHA):c.1036C>T (p.Arg346Cys) http://identifiers.org/clinvar/93336 ^@ NM_000709.3(BCKDHA):c.1037G>A (p.Arg346His) http://identifiers.org/clinvar/93337 ^@ NM_000709.3(BCKDHA):c.114C>G (p.Pro38=) http://identifiers.org/clinvar/93338 ^@ NM_000709.3(BCKDHA):c.114C>T (p.Pro38=) http://identifiers.org/clinvar/93339 ^@ NM_000709.3(BCKDHA):c.1168-31C>T http://identifiers.org/clinvar/93340 ^@ NM_000709.3(BCKDHA):c.1168-33G>A http://identifiers.org/clinvar/93341 ^@ NM_000709.3(BCKDHA):c.116C>A (p.Pro39His) http://identifiers.org/clinvar/93342 ^@ NM_000709.3(BCKDHA):c.117delC (p.Arg40Glyfs) http://identifiers.org/clinvar/93343 ^@ NM_000709.3(BCKDHA):c.1221A>G (p.Leu407=) http://identifiers.org/clinvar/93344 ^@ NM_000709.3(BCKDHA):c.1234G>A (p.Val412Met) http://identifiers.org/clinvar/93345 ^@ NM_000709.3(BCKDHA):c.1260C>T (p.Leu420=) http://identifiers.org/clinvar/93346 ^@ NM_000709.3(BCKDHA):c.1302C>A (p.Tyr434Ter) http://identifiers.org/clinvar/93347 ^@ NM_000709.3(BCKDHA):c.1310_1311delAC (p.His437Leufs) http://identifiers.org/clinvar/93348 ^@ NM_000709.3(BCKDHA):c.1314C>A (p.Tyr438Ter) http://identifiers.org/clinvar/93349 ^@ NM_000709.3(BCKDHA):c.14delT (p.Ile5Thrfs) http://identifiers.org/clinvar/93350 ^@ NM_000709.3(BCKDHA):c.249C>T (p.Asp83=) http://identifiers.org/clinvar/93351 ^@ NM_000709.3(BCKDHA):c.288+1G>A http://identifiers.org/clinvar/93352 ^@ NM_000709.3(BCKDHA):c.288+9C>T http://identifiers.org/clinvar/93353 ^@ NM_000709.3(BCKDHA):c.288C>T (p.His96=) http://identifiers.org/clinvar/93354 ^@ NM_000709.3(BCKDHA):c.347A>G (p.Asp116Gly) http://identifiers.org/clinvar/93355 ^@ NM_000709.3(BCKDHA):c.34C>A (p.Arg12=) http://identifiers.org/clinvar/93356 ^@ NM_000709.3(BCKDHA):c.370C>T (p.Arg124Trp) http://identifiers.org/clinvar/93357 ^@ NM_000709.3(BCKDHA):c.376-10A>C http://identifiers.org/clinvar/93358 ^@ NM_000709.3(BCKDHA):c.376-20G>A http://identifiers.org/clinvar/93359 ^@ NM_000709.3(BCKDHA):c.376-4C>T http://identifiers.org/clinvar/93360 ^@ NM_000709.3(BCKDHA):c.376-8A>C http://identifiers.org/clinvar/93361 ^@ NM_000709.3(BCKDHA):c.452C>T (p.Thr151Met) http://identifiers.org/clinvar/93362 ^@ NM_000709.3(BCKDHA):c.484+5G>A http://identifiers.org/clinvar/93363 ^@ NM_000709.3(BCKDHA):c.485-28G>A http://identifiers.org/clinvar/93364 ^@ NM_000709.3(BCKDHA):c.499C>T (p.Arg167Trp) http://identifiers.org/clinvar/93365 ^@ NM_000709.3(BCKDHA):c.632C>T (p.Thr211Met) http://identifiers.org/clinvar/93366 ^@ NM_000709.3(BCKDHA):c.639C>T (p.Ile213=) http://identifiers.org/clinvar/93367 ^@ NM_000709.3(BCKDHA):c.659C>T (p.Ala220Val) http://identifiers.org/clinvar/93368 ^@ NM_000709.3(BCKDHA):c.663C>T (p.Tyr221=) http://identifiers.org/clinvar/93369 ^@ NM_000709.3(BCKDHA):c.708C>T (p.Phe236=) http://identifiers.org/clinvar/93370 ^@ NM_000709.3(BCKDHA):c.741dupT (p.Ala248Cysfs) http://identifiers.org/clinvar/93371 ^@ NM_000709.3(BCKDHA):c.761C>A (p.Ala254Asp) http://identifiers.org/clinvar/93372 ^@ NM_000709.3(BCKDHA):c.788_790delTCT (p.Phe263del) http://identifiers.org/clinvar/93373 ^@ NM_000709.3(BCKDHA):c.817A>G (p.Thr273Ala) http://identifiers.org/clinvar/93374 ^@ NM_000709.3(BCKDHA):c.853+17C>A http://identifiers.org/clinvar/93375 ^@ NM_000709.3(BCKDHA):c.853G>C (p.Ala285Pro) http://identifiers.org/clinvar/93376 ^@ NM_000709.3(BCKDHA):c.890G>A (p.Arg297His) http://identifiers.org/clinvar/93377 ^@ NM_000709.3(BCKDHA):c.905A>C (p.Asp302Ala) http://identifiers.org/clinvar/93378 ^@ NM_000709.3(BCKDHA):c.909_910delGT (p.Phe304Cysfs) http://identifiers.org/clinvar/93379 ^@ NM_000709.3(BCKDHA):c.910T>C (p.Phe304Leu) http://identifiers.org/clinvar/93380 ^@ NM_000709.3(BCKDHA):c.917delT (p.Val306Aspfs) http://identifiers.org/clinvar/93381 ^@ NM_000709.3(BCKDHA):c.964C>T (p.Gln322Ter) http://identifiers.org/clinvar/93382 ^@ NM_000709.3(BCKDHA):c.972C>T (p.Phe324=) http://identifiers.org/clinvar/93383 ^@ NM_000709.3(BCKDHA):c.975C>T (p.Leu325=) http://identifiers.org/clinvar/93384 ^@ NM_000709.3(BCKDHA):c.978C>T (p.Ile326=) http://identifiers.org/clinvar/93385 ^@ NM_000709.3(BCKDHA):c.979G>A (p.Glu327Lys) http://identifiers.org/clinvar/93386 ^@ NM_000709.3(BCKDHA):c.995+26C>T http://identifiers.org/clinvar/93387 ^@ NM_000709.3(BCKDHA):c.995+49G>A http://identifiers.org/clinvar/93388 ^@ NM_000709.3(BCKDHA):c.995+9C>T http://identifiers.org/clinvar/93389 ^@ NM_000709.3(BCKDHA):c.996-33dupC http://identifiers.org/clinvar/93390 ^@ NM_000709.3(BCKDHA):c.996-6G>A http://identifiers.org/clinvar/93391 ^@ NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) http://identifiers.org/clinvar/93392 ^@ NM_000719.6(CACNA1C):c.1253G>C (p.Arg418Pro) http://identifiers.org/clinvar/93393 ^@ NM_000719.6(CACNA1C):c.1359C>T (p.Asp453=) http://identifiers.org/clinvar/93394 ^@ NM_000719.6(CACNA1C):c.1554C>T (p.Arg518=) http://identifiers.org/clinvar/93395 ^@ NM_000719.6(CACNA1C):c.2234T>C (p.Leu745Pro) http://identifiers.org/clinvar/93396 ^@ NM_000719.6(CACNA1C):c.2280G>A (p.Glu760=) http://identifiers.org/clinvar/93397 ^@ NM_000719.6(CACNA1C):c.2396C>A (p.Ser799Tyr) http://identifiers.org/clinvar/93398 ^@ NM_000719.6(CACNA1C):c.2436C>T (p.Asp812=) http://identifiers.org/clinvar/93399 ^@ NM_000719.6(CACNA1C):c.2449C>T (p.Pro817Ser) http://identifiers.org/clinvar/93400 ^@ NM_000719.6(CACNA1C):c.3156+6G>C http://identifiers.org/clinvar/93401 ^@ NM_000719.6(CACNA1C):c.3375C>T (p.Ile1125=) http://identifiers.org/clinvar/93402 ^@ NM_000719.6(CACNA1C):c.3642C>T (p.Tyr1214=) http://identifiers.org/clinvar/93403 ^@ NM_000719.6(CACNA1C):c.3780C>A (p.Gly1260=) http://identifiers.org/clinvar/93404 ^@ NM_000719.6(CACNA1C):c.3786C>T (p.Phe1262=) http://identifiers.org/clinvar/93405 ^@ NM_000719.6(CACNA1C):c.3969C>T (p.Ile1323=) http://identifiers.org/clinvar/93406 ^@ NM_000719.6(CACNA1C):c.4309C>T (p.Pro1437Ser) http://identifiers.org/clinvar/93407 ^@ NM_000719.6(CACNA1C):c.4485T>C (p.Asp1495=) http://identifiers.org/clinvar/93408 ^@ NM_000719.6(CACNA1C):c.4641C>T (p.Asn1547=) http://identifiers.org/clinvar/93409 ^@ NM_000719.6(CACNA1C):c.5097C>T (p.Ala1699=) http://identifiers.org/clinvar/93410 ^@ NM_000719.6(CACNA1C):c.5139C>T (p.Asp1713=) http://identifiers.org/clinvar/93411 ^@ NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) http://identifiers.org/clinvar/93412 ^@ NM_000719.6(CACNA1C):c.522G>A (p.Ala174=) http://identifiers.org/clinvar/93413 ^@ NM_000719.6(CACNA1C):c.5361G>A (p.Thr1787=) http://identifiers.org/clinvar/93414 ^@ NM_000719.6(CACNA1C):c.5451C>T (p.His1817=) http://identifiers.org/clinvar/93415 ^@ NM_000719.6(CACNA1C):c.5604A>G (p.Gln1868=) http://identifiers.org/clinvar/93416 ^@ NM_000719.6(CACNA1C):c.5649G>A (p.Pro1883=) http://identifiers.org/clinvar/93417 ^@ NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) http://identifiers.org/clinvar/93418 ^@ NM_000719.6(CACNA1C):c.5680+11C>T http://identifiers.org/clinvar/93419 ^@ NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) http://identifiers.org/clinvar/93420 ^@ NM_000719.6(CACNA1C):c.617+17G>A http://identifiers.org/clinvar/93421 ^@ NM_000719.6(CACNA1C):c.617+19T>C http://identifiers.org/clinvar/93422 ^@ NM_000719.6(CACNA1C):c.71G>A (p.Arg24His) http://identifiers.org/clinvar/93423 ^@ NM_000719.6(CACNA1C):c.771C>T (p.Val257=) http://identifiers.org/clinvar/93424 ^@ NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) http://identifiers.org/clinvar/93425 ^@ NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) http://identifiers.org/clinvar/93426 ^@ NM_000744.6(CHRNA4):c.1401C>T (p.Ser467=) http://identifiers.org/clinvar/93427 ^@ NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) http://identifiers.org/clinvar/93428 ^@ NM_000744.6(CHRNA4):c.1659G>A (p.Ala553=) http://identifiers.org/clinvar/93429 ^@ NM_000744.6(CHRNA4):c.1758+14A>G http://identifiers.org/clinvar/93430 ^@ NM_000744.6(CHRNA4):c.51G>A (p.Leu17=) http://identifiers.org/clinvar/93431 ^@ NM_000806.5(GABRA1):c.1059+15G>A http://identifiers.org/clinvar/93432 ^@ NM_000806.5(GABRA1):c.1323G>A (p.Thr441=) http://identifiers.org/clinvar/93433 ^@ NM_000816.3(GABRG2):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/93434 ^@ NM_000816.3(GABRG2):c.588C>T (p.Asn196=) http://identifiers.org/clinvar/93435 ^@ NM_007325.4(GRIA3):c.1701C>A (p.Ser567Arg) http://identifiers.org/clinvar/93436 ^@ NM_000843.3(GRM6):c.1012G>A (p.Gly338Arg) http://identifiers.org/clinvar/93437 ^@ NM_000843.3(GRM6):c.1571C>T (p.Pro524Leu) http://identifiers.org/clinvar/93438 ^@ NM_000843.3(GRM6):c.176A>C (p.Gln59Pro) http://identifiers.org/clinvar/93439 ^@ NM_000843.3(GRM6):c.1875C>T (p.Tyr625=) http://identifiers.org/clinvar/93440 ^@ NM_000843.3(GRM6):c.19G>A (p.Ala7Thr) http://identifiers.org/clinvar/93441 ^@ NM_000883.3(IMPDH1):c.1362C>A (p.Thr454=) http://identifiers.org/clinvar/93442 ^@ NM_000364.3(TNNT2):c.41+16A>G http://identifiers.org/clinvar/93443 ^@ NM_001004127.2(ALG11):c.1241T>A (p.Ile414Asn) http://identifiers.org/clinvar/93444 ^@ NM_001005741.2(GBA):c.1060G>C (p.Asp354His) http://identifiers.org/clinvar/93445 ^@ NM_001005741.2(GBA):c.115+1G>A http://identifiers.org/clinvar/93446 ^@ NM_001005741.2(GBA):c.1171G>C (p.Val391Leu) http://identifiers.org/clinvar/93447 ^@ NM_000157.3(GBA):c.1223C>T (p.Thr408Met) http://identifiers.org/clinvar/93448 ^@ NM_001005741.2(GBA):c.1240G>T (p.Val414Leu) http://identifiers.org/clinvar/93449 ^@ NM_001005741.2(GBA):c.1448T>G (p.Leu483Arg) http://identifiers.org/clinvar/93452 ^@ NM_001005741.2(GBA):c.487delG (p.Ala163Profs) http://identifiers.org/clinvar/93453 ^@ NM_001005741.2(GBA):c.508C>T (p.Arg170Cys) http://identifiers.org/clinvar/93454 ^@ NM_001005741.2(GBA):c.605G>A (p.Arg202Gln) http://identifiers.org/clinvar/93455 ^@ NM_001005741.2(GBA):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/93456 ^@ NM_001005741.2(GBA):c.634T>A (p.Ser212Thr) http://identifiers.org/clinvar/93457 ^@ NM_001005741.2(GBA):c.667T>C (p.Trp223Arg) http://identifiers.org/clinvar/93458 ^@ NM_001005741.2(GBA):c.681T>G (p.Asn227Lys) http://identifiers.org/clinvar/93459 ^@ NM_001005741.2(GBA):c.721G>A (p.Gly241Arg) http://identifiers.org/clinvar/93461 ^@ NM_001005741.2(GBA):c.988T>G (p.Trp330Gly) http://identifiers.org/clinvar/93462 ^@ NM_001006657.1(WDR35):c.1559G>T (p.Gly520Val) http://identifiers.org/clinvar/93463 ^@ NM_001006657.1(WDR35):c.2599G>T (p.Val867Phe) http://identifiers.org/clinvar/93464 ^@ NM_001008537.2(KIAA2022):c.2672A>G (p.Asn891Ser) http://identifiers.org/clinvar/93465 ^@ NM_001010892.2(RSPH4A):c.144G>A (p.Gly48=) http://identifiers.org/clinvar/93467 ^@ NM_001018113.2(FANCB):c.1327-10T>C http://identifiers.org/clinvar/93468 ^@ NM_001018113.2(FANCB):c.1327-3delT http://identifiers.org/clinvar/93469 ^@ NM_001023570.3(IQCB1):c.1518_1519delCA (p.His506Glnfs) http://identifiers.org/clinvar/93470 ^@ NM_000480.2(AMPD3):c.249-17T>C http://identifiers.org/clinvar/93471 ^@ NM_001025389.1(AMPD3):c.573G>A (p.Pro191=) http://identifiers.org/clinvar/93472 ^@ NM_001029883.2(C2orf71):c.184C>G (p.Pro62Ala) http://identifiers.org/clinvar/93473 ^@ NM_001029883.2(C2orf71):c.2954A>G (p.Glu985Gly) http://identifiers.org/clinvar/93474 ^@ NM_001029883.2(C2orf71):c.3264_3266delCCC (p.Pro1089del) http://identifiers.org/clinvar/93475 ^@ NM_001029883.2(C2orf71):c.3291G>A (p.Gln1097=) http://identifiers.org/clinvar/93476 ^@ NM_001035.2(RYR2):c.13476+16A>G http://identifiers.org/clinvar/93477 ^@ NM_001035.2(RYR2):c.2301G>T (p.Ser767=) http://identifiers.org/clinvar/93478 ^@ NM_001035.2(RYR2):c.3180C>T (p.Tyr1060=) http://identifiers.org/clinvar/93480 ^@ NM_001035.2(RYR2):c.982G>A (p.Ala328Thr) http://identifiers.org/clinvar/93481 ^@ NM_001037.4(SCN1B):c.40+15G>T http://identifiers.org/clinvar/93482 ^@ NM_001039348.2(EFEMP1):c.387A>G (p.Glu129=) http://identifiers.org/clinvar/93483 ^@ NM_001039348.2(EFEMP1):c.580C>T (p.Arg194Trp) http://identifiers.org/clinvar/93484 ^@ NM_001039891.2(ZNF674):c.707A>G (p.Lys236Arg) http://identifiers.org/clinvar/93485 ^@ NM_001039891.2(ZNF674):c.899G>A (p.Arg300Gln) http://identifiers.org/clinvar/93486 ^@ NM_000402.4(G6PD):c.*47G>A http://identifiers.org/clinvar/93487 ^@ NM_000402.4(G6PD):c.*50G>A http://identifiers.org/clinvar/93488 ^@ NM_000402.4(G6PD):c.1127A>T (p.Asn376Ile) http://identifiers.org/clinvar/93489 ^@ NM_000402.4(G6PD):c.1138G>C (p.Asp380His) http://identifiers.org/clinvar/93491 ^@ NM_000402.4(G6PD):c.211-46G>A http://identifiers.org/clinvar/93493 ^@ NM_000402.4(G6PD):c.1450C>T (p.Arg484Cys) http://identifiers.org/clinvar/93494 ^@ G6PD:c.1455-13T>C http://identifiers.org/clinvar/93495 ^@ NM_000402.4(G6PD):c.1488C>T (p.Thr496=) http://identifiers.org/clinvar/93496 ^@ NM_000402.4(G6PD):c.1521C>T (p.Pro507=) http://identifiers.org/clinvar/93497 ^@ NM_000402.4(G6PD):c.1547+34A>G http://identifiers.org/clinvar/93498 ^@ NM_000402.4(G6PD):c.1548-13C>G http://identifiers.org/clinvar/93499 ^@ NM_000402.4(G6PD):c.473T>C (p.Leu158Pro) http://identifiers.org/clinvar/93500 ^@ NM_000402.4(G6PD):c.635G>C (p.Arg212Pro) http://identifiers.org/clinvar/93501 ^@ NM_000402.4(G6PD):c.765G>C (p.Trp255Cys) http://identifiers.org/clinvar/93502 ^@ NM_000402.4(G6PD):c.861-3C>T http://identifiers.org/clinvar/93503 ^@ NM_000402.4(G6PD):c.954+17A>T http://identifiers.org/clinvar/93504 ^@ NM_000402.4(G6PD):c.188T>C (p.Ile63Thr) http://identifiers.org/clinvar/93505 ^@ NM_001042432.1(CLN3):c.768C>T (p.Thr256=) http://identifiers.org/clinvar/93506 ^@ NM_001077182.2(FSCN2):c.1497C>A (p.Gly499=) http://identifiers.org/clinvar/93507 ^@ NM_001077182.2(FSCN2):c.1518C>T (p.Asp506=) http://identifiers.org/clinvar/93508 ^@ NM_001077182.2(FSCN2):c.738T>C (p.Pro246=) http://identifiers.org/clinvar/93509 ^@ NM_001079802.1(FKTN):c.-45G>T http://identifiers.org/clinvar/93510 ^@ NM_001079802.1(FKTN):c.1026C>A (p.Leu342=) http://identifiers.org/clinvar/93511 ^@ NM_006731.2(FKTN):c.1045-40C>A http://identifiers.org/clinvar/93512 ^@ NM_001079802.1(FKTN):c.105+36_105+39delTCTT http://identifiers.org/clinvar/93513 ^@ NM_001079802.1(FKTN):c.106-10G>A http://identifiers.org/clinvar/93514 ^@ NM_001079802.1(FKTN):c.106-40A>G http://identifiers.org/clinvar/93516 ^@ NM_001079802.1(FKTN):c.165+29A>G http://identifiers.org/clinvar/93517 ^@ NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) http://identifiers.org/clinvar/93518 ^@ NM_001079802.1(FKTN):c.167G>A (p.Arg56His) http://identifiers.org/clinvar/93519 ^@ NM_001079802.1(FKTN):c.369+43C>T http://identifiers.org/clinvar/93520 ^@ NM_001079802.1(FKTN):c.41C>T (p.Thr14Met) http://identifiers.org/clinvar/93521 ^@ NM_001079802.1(FKTN):c.42G>A (p.Thr14=) http://identifiers.org/clinvar/93522 ^@ NM_001079802.1(FKTN):c.608G>A (p.Arg203Gln) http://identifiers.org/clinvar/93523 ^@ NM_001079802.1(FKTN):c.642dupT (p.Asp215Terfs) http://identifiers.org/clinvar/93524 ^@ NM_001079802.1(FKTN):c.748T>C (p.Cys250Arg) http://identifiers.org/clinvar/93525 ^@ NM_001079802.1(FKTN):c.910+14G>A http://identifiers.org/clinvar/93526 ^@ NM_001080116.1(LDB3):c.160G>A (p.Gly54Ser) http://identifiers.org/clinvar/93527 ^@ NM_001080463.1(DYNC2H1):c.10064-15G>T http://identifiers.org/clinvar/93528 ^@ NM_001080463.1(DYNC2H1):c.11670+12C>A http://identifiers.org/clinvar/93529 ^@ NM_001080463.1(DYNC2H1):c.6951C>T (p.His2317=) http://identifiers.org/clinvar/93530 ^@ NM_001080463.1(DYNC2H1):c.8881G>A (p.Ala2961Thr) http://identifiers.org/clinvar/93531 ^@ NM_001080522.2(CC2D2A):c.124-6C>T http://identifiers.org/clinvar/93532 ^@ NM_001080522.2(CC2D2A):c.2003+19C>T http://identifiers.org/clinvar/93533 ^@ NM_001082538.2(TCTN1):c.1234A>G (p.Ile412Val) http://identifiers.org/clinvar/93534 ^@ NM_024549.5(TCTN1):c.473-6_473-4delAAA http://identifiers.org/clinvar/93535 ^@ NM_001083961.1(WDR62):c.142C>T (p.Leu48Phe) http://identifiers.org/clinvar/93536 ^@ NM_001083961.1(WDR62):c.156C>G (p.Ser52=) http://identifiers.org/clinvar/93537 ^@ NM_001083961.1(WDR62):c.2227C>T (p.His743Tyr) http://identifiers.org/clinvar/93538 ^@ NM_001083961.1(WDR62):c.3929A>T (p.Gln1310Leu) http://identifiers.org/clinvar/93539 ^@ NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) http://identifiers.org/clinvar/93540 ^@ NM_001083962.1(TCF4):c.1086G>A (p.Trp362Ter) http://identifiers.org/clinvar/93541 ^@ NM_001083962.1(TCF4):c.1419G>C (p.Pro473=) http://identifiers.org/clinvar/93542 ^@ NM_001083962.1(TCF4):c.1733G>A (p.Arg578His) http://identifiers.org/clinvar/93543 ^@ NM_001083962.1(TCF4):c.1923G>A (p.Glu641=) http://identifiers.org/clinvar/93544 ^@ NM_001083962.1(TCF4):c.1941A>G (p.Ser647=) http://identifiers.org/clinvar/93545 ^@ NM_001083962.1(TCF4):c.514_517delAAAG (p.Lys172Phefs) http://identifiers.org/clinvar/93546 ^@ NM_001100.3(ACTA1):c.130-10G>C http://identifiers.org/clinvar/93547 ^@ NM_001100.3(ACTA1):c.130-5T>C http://identifiers.org/clinvar/93548 ^@ NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) http://identifiers.org/clinvar/93549 ^@ NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser) http://identifiers.org/clinvar/93550 ^@ NM_001100.3(ACTA1):c.446G>A (p.Arg149Lys) http://identifiers.org/clinvar/93551 ^@ NM_001100.3(ACTA1):c.809-12dupC http://identifiers.org/clinvar/93552 ^@ NM_001100.3(ACTA1):c.809-14G>C http://identifiers.org/clinvar/93553 ^@ NM_001100.3(ACTA1):c.809-15dupC http://identifiers.org/clinvar/93554 ^@ NM_001100.3(ACTA1):c.809-35delG http://identifiers.org/clinvar/93555 ^@ NM_001100.3(ACTA1):c.996C>A (p.Ile332=) http://identifiers.org/clinvar/93556 ^@ NM_001110792.1(MECP2):c.21_23dupCGC (p.Ala8_Pro9insAla) http://identifiers.org/clinvar/93557 ^@ NM_001111125.2(IQSEC2):c.4104G>A (p.Leu1368=) http://identifiers.org/clinvar/93558 ^@ NM_001111125.2(IQSEC2):c.477G>A (p.Leu159=) http://identifiers.org/clinvar/93559 ^@ NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) http://identifiers.org/clinvar/93560 ^@ NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) http://identifiers.org/clinvar/93561 ^@ NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) http://identifiers.org/clinvar/93562 ^@ NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) http://identifiers.org/clinvar/93564 ^@ NM_001127500.2(MET):c.1076G>A (p.Arg359Gln) http://identifiers.org/clinvar/93565 ^@ NM_001127500.2(MET):c.1085T>C (p.Met362Thr) http://identifiers.org/clinvar/152089 ^@ GRCh38/hg38 7q33(chr7:133652870-133777167)x1 http://identifiers.org/clinvar/152090 ^@ GRCh38/hg38 7q36.1(chr7:152107145-152507995)x3 http://identifiers.org/clinvar/152091 ^@ GRCh38/hg38 7p15.2(chr7:26086905-26136099)x3 http://identifiers.org/clinvar/152092 ^@ GRCh38/hg38 7q11.21(chr7:64813121-64939543)x3 http://identifiers.org/clinvar/152093 ^@ GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3 http://identifiers.org/clinvar/152094 ^@ GRCh38/hg38 7q36.1(chr7:152134952-152295367)x3 http://identifiers.org/clinvar/152095 ^@ GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 http://identifiers.org/clinvar/152097 ^@ GRCh38/hg38 9p13.3(chr9:34729025-34785700)x3 http://identifiers.org/clinvar/152098 ^@ GRCh38/hg38 18q22.3(chr18:71758149-72672128)x3 http://identifiers.org/clinvar/152099 ^@ GRCh38/hg38 2p16.3(chr2:50827235-50953482)x1 http://identifiers.org/clinvar/152104 ^@ GRCh38/hg38 Yq11.223(chrY:22098428-22728213)x0 http://identifiers.org/clinvar/152105 ^@ GRCh38/hg38 20p12.3(chr20:8252819-8577546)x1 http://identifiers.org/clinvar/152106 ^@ GRCh38/hg38 9q34.3(chr9:138138686-138216026)x3 http://identifiers.org/clinvar/152108 ^@ GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1 http://identifiers.org/clinvar/152109 ^@ GRCh38/hg38 4q31.23-31.3(chr4:149910581-150498400)x3 http://identifiers.org/clinvar/152111 ^@ GRCh38/hg38 17q12(chr17:39036037-39694679)x3 http://identifiers.org/clinvar/152112 ^@ GRCh38/hg38 3p26.3(chr3:1196033-2127526)x3 http://identifiers.org/clinvar/152113 ^@ GRCh38/hg38 2q11.2(chr2:100705617-101466731)x3 http://identifiers.org/clinvar/152115 ^@ GRCh38/hg38 9p24.3-24.2(chr9:1845513-3022547)x3 http://identifiers.org/clinvar/152117 ^@ GRCh38/hg38 6q11.1(chr6:61468685-62190598)x4 http://identifiers.org/clinvar/152118 ^@ GRCh38/hg38 9p21.3(chr9:21150820-21517343)x3 http://identifiers.org/clinvar/152120 ^@ GRCh38/hg38 3p14.1(chr3:65485083-67218667)x3 http://identifiers.org/clinvar/152121 ^@ GRCh38/hg38 Yq11.221(chrY:12787777-13548311)x2 http://identifiers.org/clinvar/152124 ^@ GRCh38/hg38 22q13.32-13.33(chr22:49003834-49601534)x3 http://identifiers.org/clinvar/152125 ^@ GRCh38/hg38 3p11.1(chr3:89804977-90204853)x3 http://identifiers.org/clinvar/152128 ^@ GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3 http://identifiers.org/clinvar/152129 ^@ GRCh38/hg38 1q31.1-31.2(chr1:190036204-190945450)x1 http://identifiers.org/clinvar/152130 ^@ GRCh38/hg38 9p23(chr9:11868524-12007047)x1 http://identifiers.org/clinvar/152131 ^@ GRCh38/hg38 3p12.2(chr3:81338924-81444516)x3 http://identifiers.org/clinvar/152132 ^@ GRCh38/hg38 22q11.21(chr22:19287074-19293024)x1 http://identifiers.org/clinvar/152133 ^@ GRCh38/hg38 22q12.3(chr22:33687894-33711350)x1 http://identifiers.org/clinvar/152134 ^@ GRCh38/hg38 22q11.21(chr22:18127193-18168847)x3 http://identifiers.org/clinvar/152135 ^@ GRCh38/hg38 22q12.3(chr22:35893428-35931051)x1 http://identifiers.org/clinvar/152136 ^@ GRCh38/hg38 22q11.21(chr22:20400132-21107463)x1 http://identifiers.org/clinvar/152137 ^@ GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 http://identifiers.org/clinvar/152138 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 http://identifiers.org/clinvar/152139 ^@ GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3 http://identifiers.org/clinvar/152140 ^@ GRCh38/hg38 9q22.31(chr9:92874936-92909630)x3 http://identifiers.org/clinvar/152141 ^@ GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4 http://identifiers.org/clinvar/152142 ^@ GRCh38/hg38 22q13.33(chr22:49450335-49504768)x1 http://identifiers.org/clinvar/152143 ^@ GRCh38/hg38 22q13.33(chr22:50180224-50199565)x1 http://identifiers.org/clinvar/152144 ^@ GRCh38/hg38 22q11.21(chr22:19151514-19159891)x3 http://identifiers.org/clinvar/152145 ^@ GRCh38/hg38 22q11.1(chr22:17060782-17069747)x3 http://identifiers.org/clinvar/152146 ^@ GRCh38/hg38 22q13.31(chr22:44031975-44060578)x3 http://identifiers.org/clinvar/152147 ^@ GRCh38/hg38 2p21(chr2:45084321-45293234)x1 http://identifiers.org/clinvar/152148 ^@ GRCh38/hg38 4q22.3-23(chr4:97775681-97981347)x1 http://identifiers.org/clinvar/152149 ^@ GRCh38/hg38 9q34.3(chr9:137025210-137048081)x3 http://identifiers.org/clinvar/152150 ^@ GRCh38/hg38 10q26.3(chr10:130619775-131684528)x3 http://identifiers.org/clinvar/152157 ^@ GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 http://identifiers.org/clinvar/152158 ^@ GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 http://identifiers.org/clinvar/152159 ^@ GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 http://identifiers.org/clinvar/152160 ^@ GRCh38/hg38 2q13(chr2:110066680-110225841)x0 http://identifiers.org/clinvar/152161 ^@ GRCh38/hg38 9q31.3(chr9:109985223-110170459)x3 http://identifiers.org/clinvar/152168 ^@ GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1 http://identifiers.org/clinvar/152169 ^@ GRCh38/hg38 5q23.1(chr5:117869720-118942213)x1 http://identifiers.org/clinvar/152170 ^@ GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3 http://identifiers.org/clinvar/152171 ^@ GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 http://identifiers.org/clinvar/152172 ^@ GRCh38/hg38 9q32(chr9:114193726-114677465)x3 http://identifiers.org/clinvar/152173 ^@ GRCh38/hg38 10p11.1(chr10:38052840-38766476)x4 http://identifiers.org/clinvar/152181 ^@ GRCh38/hg38 6q16.1(chr6:97662777-98049157)x1 http://identifiers.org/clinvar/152182 ^@ GRCh38/hg38 10q25.1(chr10:108666515-109356773)x1 http://identifiers.org/clinvar/152184 ^@ GRCh38/hg38 9p24.1(chr9:8284068-8331541)x1 http://identifiers.org/clinvar/152185 ^@ GRCh38/hg38 16p13.11(chr16:15344307-16294387)x3 http://identifiers.org/clinvar/152186 ^@ GRCh38/hg38 9q34.3(chr9:136456142-136540904)x3 http://identifiers.org/clinvar/152188 ^@ GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3 http://identifiers.org/clinvar/152190 ^@ GRCh38/hg38 8p23.1(chr8:9095400-9124781)x1 http://identifiers.org/clinvar/152191 ^@ GRCh38/hg38 8q21.3(chr8:91103751-91132103)x1 http://identifiers.org/clinvar/152192 ^@ GRCh38/hg38 8p11.21-11.1(chr8:43103284-43533090)x3 http://identifiers.org/clinvar/152193 ^@ GRCh38/hg38 7q31.1(chr7:111452375-111771993)x1 http://identifiers.org/clinvar/152194 ^@ GRCh38/hg38 10p15.1(chr10:5161663-5599060)x1 http://identifiers.org/clinvar/152195 ^@ GRCh38/hg38 16q24.3(chr16:89321705-89368190)x1 http://identifiers.org/clinvar/152196 ^@ GRCh38/hg38 20p12.1(chr20:14983813-15222687)x1 http://identifiers.org/clinvar/152197 ^@ GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3 http://identifiers.org/clinvar/152198 ^@ GRCh38/hg38 8p23.1(chr8:11505173-11526880)x3 http://identifiers.org/clinvar/152206 ^@ GRCh38/hg38 6q27(chr6:167896913-170714507)x1 http://identifiers.org/clinvar/152209 ^@ GRCh38/hg38 8p23.2(chr8:4725294-4774270)x3 http://identifiers.org/clinvar/152210 ^@ GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 http://identifiers.org/clinvar/152211 ^@ GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1 http://identifiers.org/clinvar/152212 ^@ GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 http://identifiers.org/clinvar/152213 ^@ GRCh38/hg38 8q24.3(chr8:144132479-144277712)x3 http://identifiers.org/clinvar/152215 ^@ GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2 http://identifiers.org/clinvar/152216 ^@ GRCh38/hg38 6q26(chr6:162579229-163529838)x3 http://identifiers.org/clinvar/152219 ^@ GRCh38/hg38 13q33.2(chr13:105261609-105892700)x1 http://identifiers.org/clinvar/152220 ^@ GRCh38/hg38 Xq24(chrX:119249519-119495781)x1 http://identifiers.org/clinvar/152221 ^@ GRCh38/hg38 1p36.13(chr1:19169253-19415934)x1 http://identifiers.org/clinvar/152224 ^@ GRCh38/hg38 2q21.1(chr2:131337384-131619715)x1 http://identifiers.org/clinvar/152225 ^@ GRCh38/hg38 7q22.3(chr7:105185747-105512369)x1 http://identifiers.org/clinvar/152226 ^@ GRCh38/hg38 4q35.1(chr4:182348934-182946887)x1 http://identifiers.org/clinvar/152227 ^@ GRCh38/hg38 11p15.4(chr11:4304835-4510624)x1 http://identifiers.org/clinvar/152228 ^@ GRCh37/hg19 8p23.2(chr8:2256252-2598857)x3 http://identifiers.org/clinvar/152230 ^@ GRCh38/hg38 Xq11.2(chrX:64002034-64174836)x3 http://identifiers.org/clinvar/152232 ^@ GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3 http://identifiers.org/clinvar/152233 ^@ GRCh38/hg38 9p21.1(chr9:28082558-28648398)x3 http://identifiers.org/clinvar/152236 ^@ GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3 http://identifiers.org/clinvar/152237 ^@ GRCh38/hg38 13q13.1(chr13:32363156-32634280)x3 http://identifiers.org/clinvar/152238 ^@ GRCh38/hg38 8q23.3(chr8:115485621-115514859)x3 http://identifiers.org/clinvar/152239 ^@ GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 http://identifiers.org/clinvar/152242 ^@ GRCh38/hg38 19p12(chr19:22176690-23010173)x3 http://identifiers.org/clinvar/152244 ^@ GRCh38/hg38 2q34(chr2:210165293-211245653)x3 http://identifiers.org/clinvar/152245 ^@ GRCh38/hg38 21q21.3(chr21:26892213-28034654)x3 http://identifiers.org/clinvar/152246 ^@ GRCh38/hg38 17q11.1-11.2(chr17:26964783-27583227)x3 http://identifiers.org/clinvar/152247 ^@ GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3 http://identifiers.org/clinvar/152248 ^@ GRCh38/hg38 8p23.3(chr8:1027218-1680120)x3 http://identifiers.org/clinvar/152249 ^@ GRCh38/hg38 8p22(chr8:16383459-16495585)x1 http://identifiers.org/clinvar/152250 ^@ GRCh38/hg38 Xq21.1(chrX:77896695-77914768)x3 http://identifiers.org/clinvar/152251 ^@ GRCh38/hg38 19q12(chr19:28487231-29111075)x1 http://identifiers.org/clinvar/152252 ^@ GRCh38/hg38 7p21.2(chr7:15533812-15855669)x1 http://identifiers.org/clinvar/152253 ^@ GRCh38/hg38 8p23.3(chr8:226452-2017223)x1 http://identifiers.org/clinvar/152254 ^@ GRCh38/hg38 8p23.2-23.1(chr8:2605460-7026475)x3 http://identifiers.org/clinvar/152255 ^@ GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3 http://identifiers.org/clinvar/152256 ^@ GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1 http://identifiers.org/clinvar/152257 ^@ GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 http://identifiers.org/clinvar/152258 ^@ GRCh38/hg38 Xp22.32-22.31(chrX:5982467-6100650)x0 http://identifiers.org/clinvar/152259 ^@ GRCh38/hg38 8q21.3(chr8:88661262-88820021)x1 http://identifiers.org/clinvar/152261 ^@ GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 http://identifiers.org/clinvar/152266 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 http://identifiers.org/clinvar/152267 ^@ GRCh38/hg38 Xp21.1(chrX:31744885-32562211)x0 http://identifiers.org/clinvar/152268 ^@ GRCh38/hg38 Xp22.33(chrX:440936-1223133)x1 http://identifiers.org/clinvar/152269 ^@ GRCh38/hg38 8q24.3(chr8:144925972-145010039)x3 http://identifiers.org/clinvar/152270 ^@ GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1 http://identifiers.org/clinvar/152271 ^@ GRCh38/hg38 Xq28(chrX:148999676-149003587)x1 http://identifiers.org/clinvar/152276 ^@ GRCh38/hg38 12p11.1(chr12:33392214-33943704)x1 http://identifiers.org/clinvar/152277 ^@ GRCh38/hg38 14q21.1(chr14:38704374-38942133)x1 http://identifiers.org/clinvar/152278 ^@ GRCh38/hg38 13q21.32(chr13:65641654-66641601)x3 http://identifiers.org/clinvar/152279 ^@ GRCh38/hg38 6p21.32(chr6:33415354-33432929)x3 http://identifiers.org/clinvar/152281 ^@ GRCh38/hg38 8q12.3(chr8:61424146-62002003)x3 http://identifiers.org/clinvar/152283 ^@ GRCh38/hg38 6p21.33(chr6:32051369-32091833)x3 http://identifiers.org/clinvar/152284 ^@ GRCh38/hg38 6q14.1(chr6:75655832-76509933)x3 http://identifiers.org/clinvar/152285 ^@ GRCh38/hg38 Xp11.4(chrX:41778639-41999565)x2 http://identifiers.org/clinvar/152286 ^@ GRCh38/hg38 Xp11.3(chrX:44589099-45143119)x2 http://identifiers.org/clinvar/152287 ^@ GRCh38/hg38 4q13.2-13.3(chr4:68796335-69850009)x3 http://identifiers.org/clinvar/152288 ^@ GRCh38/hg38 2p16.3(chr2:50619962-51329577)x1 http://identifiers.org/clinvar/152289 ^@ GRCh38/hg38 13q31.3(chr13:90718634-91226120)x3 http://identifiers.org/clinvar/152290 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/152291 ^@ GRCh38/hg38 8p12(chr8:31847822-31868891)x1 http://identifiers.org/clinvar/152293 ^@ GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 http://identifiers.org/clinvar/152294 ^@ GRCh38/hg38 19p12(chr19:22987611-23189484)x1 http://identifiers.org/clinvar/152297 ^@ GRCh38/hg38 4q22.3(chr4:94580110-95188656)x3 http://identifiers.org/clinvar/152298 ^@ GRCh38/hg38 20p13(chr20:209424-1852477)x3 http://identifiers.org/clinvar/152299 ^@ GRCh38/hg38 Xp22.33(chrX:503021-1116923)x1 http://identifiers.org/clinvar/152301 ^@ GRCh38/hg38 4p15.32(chr4:15868863-16925081)x1 http://identifiers.org/clinvar/152302 ^@ GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1 http://identifiers.org/clinvar/152303 ^@ GRCh38/hg38 7p11.2(chr7:57233248-57965704)x3 http://identifiers.org/clinvar/152304 ^@ GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3 http://identifiers.org/clinvar/152307 ^@ GRCh38/hg38 17q23.2(chr17:61331901-61424019)x3 http://identifiers.org/clinvar/152308 ^@ GRCh38/hg38 11p12(chr11:40445373-40738754)x1 http://identifiers.org/clinvar/152310 ^@ GRCh38/hg38 Xp22.33(chrX:285058-876672)x3 http://identifiers.org/clinvar/152311 ^@ GRCh38/hg38 7p14.1(chr7:38208739-38687927)x3 http://identifiers.org/clinvar/152312 ^@ GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1 http://identifiers.org/clinvar/152315 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 http://identifiers.org/clinvar/152316 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 http://identifiers.org/clinvar/152322 ^@ GRCh38/hg38 8q11.23(chr8:52513633-52875424)x3 http://identifiers.org/clinvar/152325 ^@ GRCh38/hg38 8p23.2(chr8:2605460-3270586)x3 http://identifiers.org/clinvar/152326 ^@ GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3 http://identifiers.org/clinvar/152331 ^@ GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1 http://identifiers.org/clinvar/152332 ^@ GRCh38/hg38 8p23.3(chr8:70977-144623)x3 http://identifiers.org/clinvar/152333 ^@ GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 http://identifiers.org/clinvar/152334 ^@ GRCh38/hg38 8q24.13(chr8:121898735-122385841)x3 http://identifiers.org/clinvar/152335 ^@ GRCh38/hg38 9p24.3(chr9:203861-547543)x3 http://identifiers.org/clinvar/152336 ^@ GRCh38/hg38 16p13.11(chr16:15388063-16234983)x3 http://identifiers.org/clinvar/152337 ^@ GRCh38/hg38 9p24.3(chr9:592076-694567)x1 http://identifiers.org/clinvar/152338 ^@ GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 http://identifiers.org/clinvar/152339 ^@ GRCh38/hg38 2p25.3(chr2:12770-2310816)x1 http://identifiers.org/clinvar/152340 ^@ GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 http://identifiers.org/clinvar/152341 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/152344 ^@ GRCh38/hg38 7q21.3(chr7:96924153-97157268)x1 http://identifiers.org/clinvar/152345 ^@ GRCh38/hg38 7q21.3(chr7:97403740-97858352)x1 http://identifiers.org/clinvar/152346 ^@ GRCh38/hg38 2q21.1(chr2:130720173-131278036)x1 http://identifiers.org/clinvar/152348 ^@ GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1 http://identifiers.org/clinvar/152349 ^@ GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1 http://identifiers.org/clinvar/152350 ^@ GRCh38/hg38 8p23.3(chr8:1019342-1427444)x1 http://identifiers.org/clinvar/152351 ^@ GRCh38/hg38 3p12.3(chr3:78798490-79096208)x1 http://identifiers.org/clinvar/152352 ^@ GRCh38/hg38 14q12(chr14:26741728-27322789)x1 http://identifiers.org/clinvar/152353 ^@ GRCh38/hg38 16p13.3(chr16:6708093-6854032)x1 http://identifiers.org/clinvar/152354 ^@ GRCh38/hg38 5q15(chr5:97175202-97978619)x1 http://identifiers.org/clinvar/152355 ^@ GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 http://identifiers.org/clinvar/152356 ^@ GRCh38/hg38 1q41(chr1:218712139-219548762)x1 http://identifiers.org/clinvar/152357 ^@ GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3 http://identifiers.org/clinvar/152359 ^@ GRCh38/hg38 13q31.2(chr13:87623231-88334330)x3 http://identifiers.org/clinvar/152362 ^@ GRCh38/hg38 18q22.1(chr18:66379346-67471172)x3 http://identifiers.org/clinvar/152363 ^@ GRCh38/hg38 14q13.2-13.3(chr14:35632641-36420484)x3 http://identifiers.org/clinvar/152364 ^@ GRCh38/hg38 Xp22.2(chrX:12981073-13773690)x2 http://identifiers.org/clinvar/152366 ^@ GRCh38/hg38 13q12.13(chr13:25779197-26026902)x0 http://identifiers.org/clinvar/152367 ^@ GRCh38/hg38 8q11.21(chr8:49963151-50020121)x1 http://identifiers.org/clinvar/152369 ^@ GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1 http://identifiers.org/clinvar/152370 ^@ GRCh38/hg38 18q12.1(chr18:30496396-31108811)x3 http://identifiers.org/clinvar/152371 ^@ GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3 http://identifiers.org/clinvar/152372 ^@ GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 http://identifiers.org/clinvar/152374 ^@ GRCh38/hg38 17p13.3(chr17:1373829-1525806)x1 http://identifiers.org/clinvar/152376 ^@ GRCh38/hg38 17p12(chr17:14184616-15581044)x3 http://identifiers.org/clinvar/152378 ^@ GRCh38/hg38 2q32.1(chr2:185872716-186401063)x1 http://identifiers.org/clinvar/152379 ^@ GRCh38/hg38 8p22(chr8:14047934-14103793)x3 http://identifiers.org/clinvar/152382 ^@ GRCh38/hg38 11p15.2(chr11:14594998-14806982)x1 http://identifiers.org/clinvar/152383 ^@ GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3 http://identifiers.org/clinvar/152384 ^@ GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3 http://identifiers.org/clinvar/152385 ^@ GRCh38/hg38 2p16.3(chr2:50624294-51265729)x1 http://identifiers.org/clinvar/152388 ^@ GRCh38/hg38 3p21.1-14.3(chr3:54326299-54496558)x1 http://identifiers.org/clinvar/152389 ^@ GRCh38/hg38 7q34(chr7:140337173-140406740)x3 http://identifiers.org/clinvar/152390 ^@ GRCh38/hg38 7p22.3(chr7:36480-80075)x3 http://identifiers.org/clinvar/152395 ^@ GRCh38/hg38 7p22.3(chr7:866937-948487)x3 http://identifiers.org/clinvar/152396 ^@ GRCh38/hg38 7q21.2(chr7:91929250-92018542)x3 http://identifiers.org/clinvar/152397 ^@ GRCh38/hg38 7q21.11(chr7:79708363-79763854)x3 http://identifiers.org/clinvar/152398 ^@ GRCh38/hg38 7q31.33(chr7:124967179-125033187)x1 http://identifiers.org/clinvar/152399 ^@ GRCh38/hg38 7p22.3(chr7:896276-1022380)x3 http://identifiers.org/clinvar/152400 ^@ GRCh38/hg38 7q31.1(chr7:113485224-113569777)x1 http://identifiers.org/clinvar/152401 ^@ GRCh38/hg38 7p22.3(chr7:890905-948487)x3 http://identifiers.org/clinvar/152402 ^@ GRCh38/hg38 17q11.2(chr17:31354282-31441410)x3 http://identifiers.org/clinvar/152403 ^@ GRCh38/hg38 6q25.3(chr6:157209928-157433541)x3 http://identifiers.org/clinvar/152404 ^@ GRCh38/hg38 7q36.2(chr7:153790178-153954188)x3 http://identifiers.org/clinvar/152405 ^@ GRCh38/hg38 6q22.1(chr6:115004512-115228403)x3 http://identifiers.org/clinvar/152406 ^@ GRCh38/hg38 6q12(chr6:67865315-67962011)x1 http://identifiers.org/clinvar/152407 ^@ GRCh38/hg38 6q12(chr6:65084129-65104371)x1 http://identifiers.org/clinvar/152408 ^@ GRCh38/hg38 6p22.2(chr6:25991391-26116829)x3 http://identifiers.org/clinvar/152409 ^@ GRCh38/hg38 6q27(chr6:167689219-167795754)x3 http://identifiers.org/clinvar/152410 ^@ GRCh38/hg38 6q21(chr6:106477579-106540582)x3 http://identifiers.org/clinvar/152411 ^@ GRCh38/hg38 6q27(chr6:165126689-165424436)x3 http://identifiers.org/clinvar/152412 ^@ GRCh38/hg38 6q26(chr6:162539079-162629312)x1 http://identifiers.org/clinvar/152414 ^@ GRCh38/hg38 6p22.1(chr6:29134533-29184989)x3 http://identifiers.org/clinvar/152415 ^@ GRCh38/hg38 6q14.3-15(chr6:87050381-87535518)x1 http://identifiers.org/clinvar/152416 ^@ GRCh38/hg38 5q15(chr5:97337837-97482389)x1 http://identifiers.org/clinvar/152417 ^@ GRCh38/hg38 5q33.3(chr5:160207321-160351176)x3 http://identifiers.org/clinvar/152418 ^@ GRCh38/hg38 5q14.1(chr5:79028408-79195058)x3 http://identifiers.org/clinvar/152419 ^@ GRCh38/hg38 5q23.1(chr5:116172632-116197770)x3 http://identifiers.org/clinvar/152420 ^@ GRCh38/hg38 5q23.1(chr5:116197770-116249556)x1 http://identifiers.org/clinvar/152421 ^@ GRCh38/hg38 5p15.33(chr5:22149-356107)x1 http://identifiers.org/clinvar/152422 ^@ GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1 http://identifiers.org/clinvar/152423 ^@ GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 http://identifiers.org/clinvar/152424 ^@ GRCh38/hg38 5q34(chr5:165860959-166420271)x3 http://identifiers.org/clinvar/152425 ^@ GRCh38/hg38 5q35.3(chr5:179140430-179408507)x3 http://identifiers.org/clinvar/152426 ^@ GRCh38/hg38 5q35.3(chr5:179342470-179506406)x3 http://identifiers.org/clinvar/152427 ^@ GRCh38/hg38 5p13.2(chr5:37239106-37298497)x3 http://identifiers.org/clinvar/152428 ^@ GRCh38/hg38 5p13.2(chr5:37239106-37298497)x4 http://identifiers.org/clinvar/152429 ^@ GRCh38/hg38 5q15(chr5:97716206-97741618)x1 http://identifiers.org/clinvar/152430 ^@ GRCh38/hg38 5q23.3(chr5:128434801-128486349)x1 http://identifiers.org/clinvar/152431 ^@ GRCh38/hg38 5q31.3(chr5:143198264-143252477)x3 http://identifiers.org/clinvar/152432 ^@ GRCh38/hg38 5q21.3(chr5:105110013-105137553)x1 http://identifiers.org/clinvar/152433 ^@ GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3 http://identifiers.org/clinvar/152434 ^@ GRCh38/hg38 5q14.3(chr5:85966055-86043040)x1 http://identifiers.org/clinvar/152435 ^@ GRCh38/hg38 5q31.2(chr5:137051283-137117353)x3 http://identifiers.org/clinvar/152436 ^@ GRCh38/hg38 5q22.2(chr5:113164391-113235313)x1 http://identifiers.org/clinvar/152437 ^@ GRCh38/hg38 5q21.3(chr5:109373305-109472970)x3 http://identifiers.org/clinvar/152438 ^@ GRCh38/hg38 4q35.2(chr4:187669318-188587217)x3 http://identifiers.org/clinvar/152439 ^@ GRCh38/hg38 4p11(chr4:49161529-49213521)x3 http://identifiers.org/clinvar/152440 ^@ GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3 http://identifiers.org/clinvar/152441 ^@ GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 http://identifiers.org/clinvar/152442 ^@ GRCh38/hg38 4p16.3(chr4:1825301-1859026)x1 http://identifiers.org/clinvar/152443 ^@ GRCh38/hg38 4q35.2(chr4:188326519-188514062)x3 http://identifiers.org/clinvar/152444 ^@ GRCh38/hg38 4q35.2(chr4:189304859-189518560)x3 http://identifiers.org/clinvar/152445 ^@ GRCh38/hg38 4q34.3(chr4:177346067-177579894)x1 http://identifiers.org/clinvar/152446 ^@ GRCh38/hg38 4p16.3(chr4:12440-64685)x3 http://identifiers.org/clinvar/152447 ^@ GRCh38/hg38 4q35.2(chr4:189324047-189388086)x3 http://identifiers.org/clinvar/152448 ^@ GRCh38/hg38 4q32.3(chr4:164306430-164542784)x3 http://identifiers.org/clinvar/152449 ^@ GRCh38/hg38 4q21.21(chr4:80772092-80879777)x1 http://identifiers.org/clinvar/152450 ^@ GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 http://identifiers.org/clinvar/152451 ^@ GRCh38/hg38 4q35.2(chr4:186554379-189324047)x1 http://identifiers.org/clinvar/152452 ^@ GRCh38/hg38 4p16.1(chr4:10120326-10402030)x3 http://identifiers.org/clinvar/152453 ^@ GRCh38/hg38 3p25.1(chr3:15806288-16201982)x3 http://identifiers.org/clinvar/152454 ^@ GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 http://identifiers.org/clinvar/152455 ^@ GRCh38/hg38 3q26.1(chr3:163143228-163227379)x1 http://identifiers.org/clinvar/152456 ^@ GRCh38/hg38 3q29(chr3:195838288-195918665)x3 http://identifiers.org/clinvar/152457 ^@ GRCh38/hg38 3q29(chr3:197786508-197876465)x3 http://identifiers.org/clinvar/152458 ^@ GRCh38/hg38 3p12.2(chr3:80367579-81003706)x3 http://identifiers.org/clinvar/152459 ^@ GRCh38/hg38 3q11.2(chr3:96917052-97094243)x1 http://identifiers.org/clinvar/152460 ^@ GRCh38/hg38 3p25.1(chr3:14107045-14118741)x3 http://identifiers.org/clinvar/152461 ^@ GRCh38/hg38 3p26.1(chr3:7947823-8038727)x1 http://identifiers.org/clinvar/152462 ^@ GRCh38/hg38 3p25.2(chr3:12604564-12751625)x3 http://identifiers.org/clinvar/152463 ^@ GRCh38/hg38 3p25.2(chr3:12604564-12751625)x4 http://identifiers.org/clinvar/152464 ^@ GRCh38/hg38 3p12.3(chr3:75654754-75814049)x3 http://identifiers.org/clinvar/152465 ^@ GRCh38/hg38 3p26.3(chr3:1126048-1984526)x3 http://identifiers.org/clinvar/152466 ^@ GRCh38/hg38 3p12.3(chr3:78482397-78571972)x1 http://identifiers.org/clinvar/152467 ^@ GRCh38/hg38 3q29(chr3:196013486-197612399)x1 http://identifiers.org/clinvar/152468 ^@ GRCh38/hg38 3p22.3(chr3:35766275-35885027)x3 http://identifiers.org/clinvar/152469 ^@ GRCh38/hg38 3p26.1(chr3:4011644-4282551)x1 http://identifiers.org/clinvar/152470 ^@ GRCh38/hg38 3q13.31(chr3:116718201-116801214)x3 http://identifiers.org/clinvar/152471 ^@ GRCh38/hg38 3p22.3(chr3:35472057-35551788)x1 http://identifiers.org/clinvar/152472 ^@ GRCh38/hg38 3p26.1(chr3:7834569-7975734)x1 http://identifiers.org/clinvar/152473 ^@ GRCh38/hg38 3p12.3(chr3:79513424-79550313)x3 http://identifiers.org/clinvar/152474 ^@ GRCh38/hg38 3q29(chr3:198136564-198185410)x3 http://identifiers.org/clinvar/152475 ^@ GRCh38/hg38 3q26.1(chr3:166199680-166302088)x1 http://identifiers.org/clinvar/152476 ^@ GRCh38/hg38 3q24(chr3:146051251-146159728)x1 http://identifiers.org/clinvar/152477 ^@ GRCh38/hg38 3q13.31-13.32(chr3:117255116-117844958)x1 http://identifiers.org/clinvar/152478 ^@ GRCh38/hg38 3q29(chr3:196724728-196754615)x3 http://identifiers.org/clinvar/152479 ^@ GRCh38/hg38 3p12.3(chr3:76000375-76868907)x3 http://identifiers.org/clinvar/152480 ^@ GRCh38/hg38 3q29(chr3:197304419-197419325)x3 http://identifiers.org/clinvar/152481 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6947044-8084807)x3 http://identifiers.org/clinvar/152482 ^@ GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 http://identifiers.org/clinvar/152483 ^@ GRCh38/hg38 3q13.32(chr3:119059834-119081373)x4 http://identifiers.org/clinvar/152484 ^@ GRCh38/hg38 3p12.3(chr3:75654754-75742414)x3 http://identifiers.org/clinvar/152485 ^@ GRCh38/hg38 3p12.3(chr3:75669377-75742414)x3 http://identifiers.org/clinvar/152486 ^@ GRCh38/hg38 3q29(chr3:195631451-195699004)x3 http://identifiers.org/clinvar/152487 ^@ GRCh38/hg38 3p22.1(chr3:41298396-41583960)x1 http://identifiers.org/clinvar/152488 ^@ GRCh38/hg38 3q29(chr3:197098993-197658495)x3 http://identifiers.org/clinvar/152489 ^@ GRCh38/hg38 20q11.23(chr20:38280050-38320156)x1 http://identifiers.org/clinvar/152490 ^@ GRCh38/hg38 20q11.23(chr20:38110353-38199281)x3 http://identifiers.org/clinvar/152491 ^@ GRCh38/hg38 20p12.1(chr20:14753765-15174058)x1 http://identifiers.org/clinvar/152492 ^@ GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1 http://identifiers.org/clinvar/152494 ^@ GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3 http://identifiers.org/clinvar/152495 ^@ GRCh38/hg38 20p12.1(chr20:14719394-14857571)x1 http://identifiers.org/clinvar/152496 ^@ GRCh38/hg38 20p12.2(chr20:9771030-9988151)x3 http://identifiers.org/clinvar/152497 ^@ GRCh38/hg38 20p11.21(chr20:23791993-23854834)x1 http://identifiers.org/clinvar/152498 ^@ GRCh38/hg38 20q11.21(chr20:32113570-32127947)x3 http://identifiers.org/clinvar/152499 ^@ GRCh38/hg38 20p13(chr20:1409153-1435855)x3 http://identifiers.org/clinvar/152500 ^@ GRCh38/hg38 20p12.1(chr20:14775747-15091966)x1 http://identifiers.org/clinvar/152501 ^@ GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1 http://identifiers.org/clinvar/152502 ^@ GRCh38/hg38 20p11.1(chr20:26148224-26244487)x1 http://identifiers.org/clinvar/152503 ^@ GRCh38/hg38 20q13.33(chr20:63095686-63170849)x3 http://identifiers.org/clinvar/152504 ^@ GRCh38/hg38 20p12.3(chr20:8215937-8276043)x1 http://identifiers.org/clinvar/152505 ^@ GRCh38/hg38 2p16.3(chr2:50265501-50274792)x1 http://identifiers.org/clinvar/152506 ^@ GRCh38/hg38 2q13(chr2:110076063-110209066)x1 http://identifiers.org/clinvar/152507 ^@ GRCh38/hg38 2q13(chr2:110076063-110209066)x3 http://identifiers.org/clinvar/152508 ^@ GRCh38/hg38 2p23.1(chr2:31275440-31327058)x3 http://identifiers.org/clinvar/152509 ^@ GRCh38/hg38 2q32.1(chr2:187111412-187248594)x1 http://identifiers.org/clinvar/152510 ^@ GRCh38/hg38 2q23.3(chr2:149857687-149928608)x0 http://identifiers.org/clinvar/152511 ^@ GRCh38/hg38 2q36.3(chr2:229684757-229717735)x1 http://identifiers.org/clinvar/152512 ^@ GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3 http://identifiers.org/clinvar/152514 ^@ GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3 http://identifiers.org/clinvar/152515 ^@ GRCh37/hg19 2q37.3(chr2:243088755-243175692)x3 http://identifiers.org/clinvar/152516 ^@ GRCh38/hg38 2q11.2(chr2:99217507-99295925)x4 http://identifiers.org/clinvar/152517 ^@ GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1 http://identifiers.org/clinvar/152518 ^@ GRCh38/hg38 2q31.2(chr2:179205517-179345294)x3 http://identifiers.org/clinvar/152519 ^@ GRCh38/hg38 2p11.2(chr2:88941499-88959991)x1 http://identifiers.org/clinvar/152520 ^@ GRCh38/hg38 2q12.3(chr2:107822694-107825068)x3 http://identifiers.org/clinvar/152521 ^@ GRCh38/hg38 2p25.3(chr2:84669-229081)x1 http://identifiers.org/clinvar/152522 ^@ GRCh38/hg38 2p16.3(chr2:49910893-49943628)x3 http://identifiers.org/clinvar/152523 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95809285-96006224)x3 http://identifiers.org/clinvar/152524 ^@ GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 http://identifiers.org/clinvar/152525 ^@ GRCh38/hg38 2q35(chr2:215122108-215156148)x1 http://identifiers.org/clinvar/152526 ^@ GRCh38/hg38 2p25.3(chr2:848908-1110952)x3 http://identifiers.org/clinvar/152527 ^@ GRCh38/hg38 2p25.3(chr2:1614809-1844295)x3 http://identifiers.org/clinvar/152528 ^@ GRCh38/hg38 2p11.2(chr2:83448114-84024195)x4 http://identifiers.org/clinvar/152529 ^@ GRCh38/hg38 2p22.3(chr2:35350936-35544398)x3 http://identifiers.org/clinvar/152530 ^@ GRCh38/hg38 2q32.3(chr2:194197823-194352547)x1 http://identifiers.org/clinvar/152531 ^@ GRCh38/hg38 2q32.2(chr2:189828954-189853926)x1 http://identifiers.org/clinvar/152532 ^@ GRCh38/hg38 2q14.1(chr2:112878355-113035551)x3 http://identifiers.org/clinvar/152533 ^@ GRCh38/hg38 2q21.2(chr2:131961752-132048425)x3 http://identifiers.org/clinvar/152534 ^@ GRCh38/hg38 2p21(chr2:45192069-45734384)x3 http://identifiers.org/clinvar/152536 ^@ GRCh38/hg38 2p16.3(chr2:50794314-50801971)x1 http://identifiers.org/clinvar/152537 ^@ GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 http://identifiers.org/clinvar/152538 ^@ GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 http://identifiers.org/clinvar/152539 ^@ GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 http://identifiers.org/clinvar/152540 ^@ GRCh38/hg38 2p24.3(chr2:13066883-13197022)x3 http://identifiers.org/clinvar/152541 ^@ GRCh38/hg38 2q12.2-12.3(chr2:106261594-107166471)x3 http://identifiers.org/clinvar/152542 ^@ GRCh38/hg38 2p11.2(chr2:89023889-91627653)x3 http://identifiers.org/clinvar/152543 ^@ GRCh38/hg38 2p22.3(chr2:34477863-34689933)x1 http://identifiers.org/clinvar/152544 ^@ GRCh38/hg38 2q21.3(chr2:135479205-135518855)x1 http://identifiers.org/clinvar/152545 ^@ GRCh38/hg38 11q22.3(chr11:103086228-103824315)x3 http://identifiers.org/clinvar/152546 ^@ GRCh38/hg38 19p13.3(chr19:1102684-1161676)x3 http://identifiers.org/clinvar/152547 ^@ GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3 http://identifiers.org/clinvar/152548 ^@ GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 http://identifiers.org/clinvar/152549 ^@ GRCh38/hg38 18p11.32(chr18:2770295-2816145)x3 http://identifiers.org/clinvar/152550 ^@ GRCh38/hg38 18q22.1(chr18:67600914-67981221)x3 http://identifiers.org/clinvar/152551 ^@ GRCh38/hg38 18p11.32(chr18:1725224-1828441)x1 http://identifiers.org/clinvar/152552 ^@ GRCh38/hg38 18q23(chr18:80150257-80252090)x3 http://identifiers.org/clinvar/152553 ^@ GRCh38/hg38 18p11.21(chr18:14807930-14837136)x3 http://identifiers.org/clinvar/152554 ^@ GRCh38/hg38 18p11.21(chr18:14807930-14850047)x3 http://identifiers.org/clinvar/152556 ^@ GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1 http://identifiers.org/clinvar/152557 ^@ GRCh38/hg38 18q22.1(chr18:68029227-68865247)x3 http://identifiers.org/clinvar/152558 ^@ GRCh38/hg38 18p11.21(chr18:14695719-15215783)x3 http://identifiers.org/clinvar/152559 ^@ GRCh38/hg38 18q12.1(chr18:31392177-31439972)x1 http://identifiers.org/clinvar/152560 ^@ GRCh38/hg38 18p11.21(chr18:14695719-15165152)x3 http://identifiers.org/clinvar/152561 ^@ GRCh38/hg38 18p11.23(chr18:8293085-8402124)x3 http://identifiers.org/clinvar/152562 ^@ GRCh38/hg38 18q11.2(chr18:26827472-27054730)x3 http://identifiers.org/clinvar/152563 ^@ GRCh38/hg38 18q22.3(chr18:71289175-71464187)x1 http://identifiers.org/clinvar/152564 ^@ GRCh38/hg38 17p11.2(chr17:17044614-17072032)x3 http://identifiers.org/clinvar/152565 ^@ GRCh38/hg38 2p15(chr2:62031155-62779065)x3 http://identifiers.org/clinvar/152566 ^@ GRCh38/hg38 17q24.3(chr17:72120958-72123189)x3 http://identifiers.org/clinvar/152567 ^@ GRCh38/hg38 17p11.2(chr17:16195853-16203711)x3 http://identifiers.org/clinvar/152568 ^@ GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 http://identifiers.org/clinvar/152569 ^@ GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3 http://identifiers.org/clinvar/152570 ^@ GRCh38/hg38 17q12(chr17:36500215-36550767)x3 http://identifiers.org/clinvar/152571 ^@ GRCh38/hg38 17q22(chr17:58940516-59008749)x3 http://identifiers.org/clinvar/152572 ^@ GRCh38/hg38 17p11.2(chr17:17001146-17123948)x3 http://identifiers.org/clinvar/152573 ^@ GRCh38/hg38 17p13.2(chr17:3543809-3596080)x3 http://identifiers.org/clinvar/152574 ^@ GRCh38/hg38 17q24.3-25.1(chr17:72748663-73054904)x3 http://identifiers.org/clinvar/152575 ^@ GRCh38/hg38 17p12(chr17:15776915-15793546)x1 http://identifiers.org/clinvar/152576 ^@ GRCh38/hg38 18q22.1(chr18:68029227-68865306)x3 http://identifiers.org/clinvar/152577 ^@ GRCh38/hg38 17p13.3(chr17:325205-342909)x1 http://identifiers.org/clinvar/152578 ^@ GRCh38/hg38 17p13.2(chr17:4451053-4490484)x3 http://identifiers.org/clinvar/152579 ^@ GRCh38/hg38 17q12(chr17:36566143-37889237)x3 http://identifiers.org/clinvar/152580 ^@ GRCh37/hg19 17q12(chr17:34856055-36248859)x1 http://identifiers.org/clinvar/152581 ^@ GRCh38/hg38 17p12(chr17:15745195-15770848)x3 http://identifiers.org/clinvar/152582 ^@ GRCh38/hg38 17p11.2(chr17:18219346-18225106)x3 http://identifiers.org/clinvar/152583 ^@ GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 http://identifiers.org/clinvar/152584 ^@ GRCh38/hg38 16q24.3(chr16:89582242-89635475)x3 http://identifiers.org/clinvar/152585 ^@ GRCh38/hg38 16p13.3(chr16:979282-985951)x3 http://identifiers.org/clinvar/152586 ^@ GRCh38/hg38 16p13.3(chr16:152250-165725)x1 http://identifiers.org/clinvar/152587 ^@ GRCh38/hg38 16p13.3(chr16:6735606-7051254)x3 http://identifiers.org/clinvar/152588 ^@ GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3 http://identifiers.org/clinvar/152589 ^@ GRCh38/hg38 17q24.3(chr17:70089117-71111424)x3 http://identifiers.org/clinvar/152590 ^@ GRCh38/hg38 16p13.3(chr16:6996159-7051254)x1 http://identifiers.org/clinvar/152591 ^@ GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 http://identifiers.org/clinvar/152592 ^@ GRCh38/hg38 16q21(chr16:60385204-60908929)x1 http://identifiers.org/clinvar/152593 ^@ GRCh38/hg38 16p13.3(chr16:650260-722554)x1 http://identifiers.org/clinvar/152594 ^@ GRCh38/hg38 16p13.3(chr16:6664224-6786909)x1 http://identifiers.org/clinvar/152595 ^@ GRCh38/hg38 16q23.3(chr16:83529919-83921660)x3 http://identifiers.org/clinvar/152596 ^@ GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1 http://identifiers.org/clinvar/152597 ^@ GRCh38/hg38 16p13.11(chr16:16151468-16165427)x1 http://identifiers.org/clinvar/152598 ^@ GRCh38/hg38 16q24.3(chr16:89582242-89623414)x3 http://identifiers.org/clinvar/152599 ^@ GRCh38/hg38 16q21(chr16:63433063-63540050)x1 http://identifiers.org/clinvar/152601 ^@ GRCh38/hg38 16p13.3(chr16:6735606-7038925)x1 http://identifiers.org/clinvar/152602 ^@ GRCh38/hg38 16p13.3(chr16:492760-565476)x3 http://identifiers.org/clinvar/152603 ^@ GRCh38/hg38 16q24.3(chr16:88818756-88836239)x1 http://identifiers.org/clinvar/152604 ^@ GRCh38/hg38 16p12.2(chr16:21525609-21826171)x1 http://identifiers.org/clinvar/152605 ^@ GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 http://identifiers.org/clinvar/152606 ^@ GRCh38/hg38 15q24.1(chr15:74489587-74548113)x3 http://identifiers.org/clinvar/152607 ^@ GRCh38/hg38 15q26.3(chr15:101958069-101974396)x3 http://identifiers.org/clinvar/152608 ^@ GRCh38/hg38 15q23(chr15:72154949-72188562)x1 http://identifiers.org/clinvar/152609 ^@ GRCh38/hg38 15q24.2(chr15:75260306-75288287)x3 http://identifiers.org/clinvar/152610 ^@ GRCh38/hg38 15q14(chr15:33813732-34135651)x3 http://identifiers.org/clinvar/152611 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1 http://identifiers.org/clinvar/152613 ^@ GRCh38/hg38 15q13.3(chr15:31806467-32134609)x3 http://identifiers.org/clinvar/152614 ^@ GRCh38/hg38 13q31.1(chr13:86458967-86709682)x3 http://identifiers.org/clinvar/152615 ^@ GRCh38/hg38 13q33.1-33.2(chr13:104182206-104279609)x1 http://identifiers.org/clinvar/152616 ^@ GRCh38/hg38 13q32.1(chr13:95851815-95983626)x1 http://identifiers.org/clinvar/152617 ^@ GRCh38/hg38 13q12.11(chr13:20234405-20443962)x1 http://identifiers.org/clinvar/152618 ^@ GRCh38/hg38 Xp22.12(chrX:19346879-19351270)x3 http://identifiers.org/clinvar/152619 ^@ GRCh38/hg38 13q12.2(chr13:27302645-27496550)x3 http://identifiers.org/clinvar/152620 ^@ GRCh38/hg38 13q34(chr13:113814432-113825457)x3 http://identifiers.org/clinvar/152621 ^@ GRCh38/hg38 13q34(chr13:113972346-114044871)x3 http://identifiers.org/clinvar/152622 ^@ GRCh38/hg38 13q21.32(chr13:66529771-66592227)x1 http://identifiers.org/clinvar/152623 ^@ GRCh38/hg38 13q34(chr13:113379795-113399154)x1 http://identifiers.org/clinvar/152624 ^@ GRCh38/hg38 13q12.3(chr13:29830767-29893662)x3 http://identifiers.org/clinvar/152625 ^@ GRCh38/hg38 13q31.3(chr13:91441741-91625217)x1 http://identifiers.org/clinvar/152626 ^@ GRCh38/hg38 13q31.1(chr13:83947821-84116903)x1 http://identifiers.org/clinvar/152627 ^@ GRCh38/hg38 12q13.13(chr12:53841686-54136856)x3 http://identifiers.org/clinvar/152628 ^@ GRCh38/hg38 12q12(chr12:38059808-38467644)x3 http://identifiers.org/clinvar/152629 ^@ GRCh38/hg38 12q21.1(chr12:71355673-71468955)x3 http://identifiers.org/clinvar/152630 ^@ GRCh38/hg38 12q21.31(chr12:82970882-82994642)x4 http://identifiers.org/clinvar/152631 ^@ GRCh38/hg38 12q13.12(chr12:50600204-50953386)x3 http://identifiers.org/clinvar/152632 ^@ GRCh38/hg38 12p11.21(chr12:32646222-32689862)x3 http://identifiers.org/clinvar/152633 ^@ GRCh38/hg38 12p13.2(chr12:11040075-11121039)x1 http://identifiers.org/clinvar/152634 ^@ GRCh38/hg38 12p13.31(chr12:5468308-5516206)x3 http://identifiers.org/clinvar/152635 ^@ GRCh38/hg38 12p13.33(chr12:352383-366602)x3 http://identifiers.org/clinvar/152637 ^@ GRCh38/hg38 12p12.1(chr12:25332877-25470270)x3 http://identifiers.org/clinvar/152638 ^@ GRCh38/hg38 12p13.31(chr12:8455575-8623334)x1 http://identifiers.org/clinvar/152639 ^@ GRCh38/hg38 12q14.2(chr12:64566551-64687645)x3 http://identifiers.org/clinvar/152640 ^@ GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3 http://identifiers.org/clinvar/152641 ^@ GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3 http://identifiers.org/clinvar/152642 ^@ GRCh38/hg38 11p15.5(chr11:371634-426161)x3 http://identifiers.org/clinvar/152643 ^@ GRCh38/hg38 10q21.1(chr10:57420937-57605111)x3 http://identifiers.org/clinvar/152645 ^@ GRCh38/hg38 10p11.21(chr10:37154577-37206038)x3 http://identifiers.org/clinvar/152646 ^@ GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3 http://identifiers.org/clinvar/152647 ^@ GRCh38/hg38 10q21.3(chr10:66312974-66394729)x1 http://identifiers.org/clinvar/152648 ^@ GRCh38/hg38 10q21.3(chr10:66562861-66599677)x1 http://identifiers.org/clinvar/152649 ^@ GRCh38/hg38 10q22.2(chr10:73881750-73942272)x1 http://identifiers.org/clinvar/152650 ^@ GRCh38/hg38 10q25.1(chr10:109004966-109113339)x1 http://identifiers.org/clinvar/152651 ^@ GRCh38/hg38 10q23.33(chr10:94760469-94780679)x1 http://identifiers.org/clinvar/152652 ^@ GRCh38/hg38 10q23.31(chr10:89095288-89633544)x3 http://identifiers.org/clinvar/152653 ^@ GRCh38/hg38 10q24.1(chr10:97123320-97197359)x3 http://identifiers.org/clinvar/152654 ^@ GRCh38/hg38 10q21.3(chr10:66312974-66491777)x1 http://identifiers.org/clinvar/152655 ^@ GRCh38/hg38 16q23.1(chr16:78064581-78672125)x3 http://identifiers.org/clinvar/152656 ^@ GRCh38/hg38 10p12.31(chr10:20906254-20910631)x1 http://identifiers.org/clinvar/152657 ^@ GRCh38/hg38 10p13(chr10:16897939-17114251)x1 http://identifiers.org/clinvar/152658 ^@ GRCh38/hg38 10p15.3(chr10:2251891-2475069)x1 http://identifiers.org/clinvar/152659 ^@ GRCh38/hg38 10q21.3(chr10:66394729-66599677)x1 http://identifiers.org/clinvar/152660 ^@ GRCh38/hg38 10q26.3(chr10:132890906-132982094)x4 http://identifiers.org/clinvar/152661 ^@ GRCh38/hg38 10p15.3(chr10:1943051-2092215)x3 http://identifiers.org/clinvar/152662 ^@ GRCh38/hg38 10q21.1(chr10:54417212-54436627)x3 http://identifiers.org/clinvar/152663 ^@ GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3 http://identifiers.org/clinvar/152664 ^@ GRCh38/hg38 1q21.3(chr1:152526704-152729716)x1 http://identifiers.org/clinvar/152665 ^@ GRCh38/hg38 1q42.13(chr1:228986821-229159930)x3 http://identifiers.org/clinvar/152666 ^@ GRCh38/hg38 1q32.1(chr1:205609521-205666100)x3 http://identifiers.org/clinvar/152667 ^@ GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3 http://identifiers.org/clinvar/152668 ^@ GRCh38/hg38 1q42.2(chr1:231579387-231678175)x3 http://identifiers.org/clinvar/152669 ^@ GRCh38/hg38 1p31.1(chr1:72121981-72201813)x1 http://identifiers.org/clinvar/152670 ^@ GRCh37/hg19 1q21.1(chr1:143441231-143518139)x3 http://identifiers.org/clinvar/152671 ^@ GRCh38/hg38 1q44(chr1:246338331-246415872)x1 http://identifiers.org/clinvar/152672 ^@ GRCh38/hg38 1p11.2(chr1:121102046-121255545)x3 http://identifiers.org/clinvar/152673 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 http://identifiers.org/clinvar/152674 ^@ GRCh38/hg38 1q21.3(chr1:151404320-151427484)x3 http://identifiers.org/clinvar/152675 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1 http://identifiers.org/clinvar/152676 ^@ GRCh38/hg38 1q31.3(chr1:194014117-194098005)x3 http://identifiers.org/clinvar/152677 ^@ GRCh38/hg38 1p33(chr1:46366996-46483577)x3 http://identifiers.org/clinvar/152678 ^@ GRCh38/hg38 1q21.1(chr1:147378244-147455861)x1 http://identifiers.org/clinvar/152679 ^@ GRCh38/hg38 1p31.1(chr1:79075675-79146531)x1 http://identifiers.org/clinvar/152680 ^@ GRCh37/hg19 1q21.1(chr1:143400885-143504612)x3 http://identifiers.org/clinvar/152681 ^@ GRCh38/hg38 1q44(chr1:248250956-248787141)x3 http://identifiers.org/clinvar/152682 ^@ GRCh38/hg38 1p36.33(chr1:904070-932163)x3 http://identifiers.org/clinvar/152683 ^@ GRCh38/hg38 1q44(chr1:247671583-248317448)x3 http://identifiers.org/clinvar/152684 ^@ GRCh38/hg38 1p21.1(chr1:106144193-106226813)x3 http://identifiers.org/clinvar/152685 ^@ GRCh37/hg19 1q21.2(chr1:148247978-148345159)x3 http://identifiers.org/clinvar/152686 ^@ GRCh38/hg38 1q21.1(chr1:145601946-145814985)x3 http://identifiers.org/clinvar/152687 ^@ GRCh37/hg19 1q21.2(chr1:148256138-148345159)x3 http://identifiers.org/clinvar/152688 ^@ GRCh38/hg38 1q44(chr1:243514304-243527991)x3 http://identifiers.org/clinvar/152689 ^@ GRCh38/hg38 1p31.1(chr1:74320173-74823743)x3 http://identifiers.org/clinvar/152690 ^@ GRCh37/hg19 1q21.2(chr1:148256138-148327665)x3 http://identifiers.org/clinvar/152691 ^@ GRCh38/hg38 1q41(chr1:215279453-215352725)x1 http://identifiers.org/clinvar/152692 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 http://identifiers.org/clinvar/152693 ^@ GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 http://identifiers.org/clinvar/152695 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1 http://identifiers.org/clinvar/152697 ^@ GRCh38/hg38 16p13.2-13.13(chr16:9998191-10426437)x3 http://identifiers.org/clinvar/152699 ^@ GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3 http://identifiers.org/clinvar/152700 ^@ GRCh38/hg38 8p22(chr8:17860010-18406994)x3 http://identifiers.org/clinvar/152703 ^@ GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4 http://identifiers.org/clinvar/152704 ^@ GRCh38/hg38 13q34(chr13:111200986-114340331)x1 http://identifiers.org/clinvar/152705 ^@ GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 http://identifiers.org/clinvar/152708 ^@ GRCh38/hg38 Xq28(chrX:154017291-154394658)x3 http://identifiers.org/clinvar/152711 ^@ GRCh38/hg38 4q12(chr4:55572451-55801163)x1 http://identifiers.org/clinvar/152713 ^@ GRCh38/hg38 8q24.11(chr8:118098829-118103592)x1 http://identifiers.org/clinvar/152714 ^@ GRCh38/hg38 7p14.3(chr7:29030620-29796236)x1 http://identifiers.org/clinvar/152715 ^@ GRCh38/hg38 10q26.11(chr10:119671382-119835587)x3 http://identifiers.org/clinvar/152716 ^@ GRCh38/hg38 2q12.3(chr2:107901810-108472871)x3 http://identifiers.org/clinvar/152717 ^@ GRCh38/hg38 6q27(chr6:167933399-168918688)x3 http://identifiers.org/clinvar/152719 ^@ GRCh38/hg38 11p15.5(chr11:2127344-2159430)x3 http://identifiers.org/clinvar/152721 ^@ GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 http://identifiers.org/clinvar/152722 ^@ GRCh38/hg38 Xq28(chrX:149186314-149681127)x2 http://identifiers.org/clinvar/152724 ^@ GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 http://identifiers.org/clinvar/152725 ^@ GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1 http://identifiers.org/clinvar/152729 ^@ GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 http://identifiers.org/clinvar/152731 ^@ GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 http://identifiers.org/clinvar/152732 ^@ GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1 http://identifiers.org/clinvar/152733 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/152734 ^@ GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 http://identifiers.org/clinvar/152735 ^@ GRCh38/hg38 Xp22.33(chrX:1501187-2274827)x3 http://identifiers.org/clinvar/152738 ^@ GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 http://identifiers.org/clinvar/152740 ^@ GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3 http://identifiers.org/clinvar/152742 ^@ GRCh38/hg38 Xq21.1(chrX:79117536-79911218)x3 http://identifiers.org/clinvar/152743 ^@ GRCh38/hg38 15q13.3(chr15:31806467-32134668)x3 http://identifiers.org/clinvar/152744 ^@ GRCh38/hg38 Xq22.3(chrX:106986809-107315101)x0 http://identifiers.org/clinvar/152745 ^@ GRCh38/hg38 7q11.21(chr7:62736364-62736423)x3 http://identifiers.org/clinvar/152747 ^@ GRCh38/hg38 2q24.1-24.2(chr2:158655460-159251819)x3 http://identifiers.org/clinvar/152748 ^@ GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 http://identifiers.org/clinvar/152749 ^@ GRCh38/hg38 20p13(chr20:590507-679227)x3 http://identifiers.org/clinvar/152750 ^@ GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1 http://identifiers.org/clinvar/152751 ^@ GRCh38/hg38 Xp21.1(chrX:31640772-31665565)x0 http://identifiers.org/clinvar/152752 ^@ GRCh38/hg38 13q12.11(chr13:19823314-19857140)x3 http://identifiers.org/clinvar/152753 ^@ GRCh38/hg38 7q31.32(chr7:122680365-122772439)x1 http://identifiers.org/clinvar/152754 ^@ GRCh38/hg38 1p32.1(chr1:59546891-59580685)x1 http://identifiers.org/clinvar/152755 ^@ GRCh38/hg38 14q24.2(chr14:71864981-71952855)x3 http://identifiers.org/clinvar/152756 ^@ GRCh38/hg38 5q11.2(chr5:55241166-55322283)x3 http://identifiers.org/clinvar/152757 ^@ GRCh38/hg38 11p14.2(chr11:26984514-27161130)x3 http://identifiers.org/clinvar/152758 ^@ GRCh38/hg38 1p31.1(chr1:76285095-76419302)x3 http://identifiers.org/clinvar/152759 ^@ GRCh38/hg38 21q22.12(chr21:7794011-7865746)x3 http://identifiers.org/clinvar/152760 ^@ GRCh38/hg38 16p13.13(chr16:11606013-11651720)x3 http://identifiers.org/clinvar/152761 ^@ GRCh38/hg38 16q13(chr16:56408248-56431952)x3 http://identifiers.org/clinvar/152762 ^@ GRCh38/hg38 1p21.3(chr1:95230768-95286879)x1 http://identifiers.org/clinvar/152763 ^@ GRCh38/hg38 5q13.3(chr5:76534282-76608747)x1 http://identifiers.org/clinvar/152764 ^@ GRCh38/hg38 Xp22.33(chrX:610551-886734)x3 http://identifiers.org/clinvar/152765 ^@ GRCh38/hg38 8q23.1(chr8:106761128-106784262)x1 http://identifiers.org/clinvar/152766 ^@ GRCh38/hg38 2p21(chr2:43407865-43513568)x1 http://identifiers.org/clinvar/152767 ^@ GRCh38/hg38 1p34.3(chr1:39447541-39569990)x3 http://identifiers.org/clinvar/152769 ^@ GRCh38/hg38 17p11.2(chr17:17150076-17286561)x3 http://identifiers.org/clinvar/152770 ^@ GRCh38/hg38 6q26(chr6:162916759-163095219)x3 http://identifiers.org/clinvar/152771 ^@ GRCh38/hg38 17q11.2(chr17:30975560-31005259)x3 http://identifiers.org/clinvar/152772 ^@ GRCh38/hg38 4q28.1(chr4:127699317-127837482)x1 http://identifiers.org/clinvar/152773 ^@ GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 http://identifiers.org/clinvar/152774 ^@ GRCh38/hg38 9q31.1(chr9:102944147-103106059)x1 http://identifiers.org/clinvar/152775 ^@ GRCh38/hg38 17p13.2(chr17:5503990-5695008)x3 http://identifiers.org/clinvar/152776 ^@ GRCh38/hg38 15q11.2(chr15:22788031-22862785)x1 http://identifiers.org/clinvar/152777 ^@ GRCh38/hg38 7p12.3(chr7:48012022-48129375)x3 http://identifiers.org/clinvar/152778 ^@ GRCh38/hg38 8p23.3(chr8:1786547-1944616)x3 http://identifiers.org/clinvar/152779 ^@ GRCh38/hg38 17p13.3(chr17:1078810-1263198)x3 http://identifiers.org/clinvar/152780 ^@ GRCh38/hg38 1q43(chr1:242137482-242278796)x1 http://identifiers.org/clinvar/152781 ^@ GRCh38/hg38 Xq21.33(chrX:97459106-97556250)x1 http://identifiers.org/clinvar/152782 ^@ GRCh38/hg38 5q12.3(chr5:64636054-64813311)x3 http://identifiers.org/clinvar/152783 ^@ GRCh38/hg38 Xq25(chrX:124763163-126519353)x2 http://identifiers.org/clinvar/152784 ^@ GRCh38/hg38 1p31.1(chr1:70907033-70991687)x1 http://identifiers.org/clinvar/152785 ^@ GRCh38/hg38 14q21.3(chr14:47134826-47168031)x1 http://identifiers.org/clinvar/152787 ^@ GRCh38/hg38 10p15.1(chr10:5406594-5566679)x3 http://identifiers.org/clinvar/152788 ^@ GRCh38/hg38 19p13.12(chr19:15112168-15191333)x1 http://identifiers.org/clinvar/152789 ^@ GRCh38/hg38 14q13.1(chr14:33194658-33238149)x3 http://identifiers.org/clinvar/152790 ^@ GRCh38/hg38 2q37.2(chr2:235757098-235908423)x1 http://identifiers.org/clinvar/152791 ^@ GRCh38/hg38 Xq28(chrX:153539888-153560274)x1 http://identifiers.org/clinvar/152792 ^@ GRCh38/hg38 9q31.1(chr9:103998041-104166123)x3 http://identifiers.org/clinvar/152793 ^@ GRCh38/hg38 Xp22.2(chrX:16523278-16721094)x2 http://identifiers.org/clinvar/152794 ^@ GRCh38/hg38 8p23.3(chr8:1822990-1874458)x3 http://identifiers.org/clinvar/152795 ^@ GRCh38/hg38 4p16.2(chr4:5720860-5741769)x3 http://identifiers.org/clinvar/152796 ^@ GRCh38/hg38 5q13.3(chr5:74715712-74767984)x3 http://identifiers.org/clinvar/152797 ^@ GRCh38/hg38 17q11.2(chr17:32627478-32717335)x1 http://identifiers.org/clinvar/152798 ^@ GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1 http://identifiers.org/clinvar/152799 ^@ GRCh38/hg38 4q35.1(chr4:183235127-183370360)x3 http://identifiers.org/clinvar/152800 ^@ GRCh38/hg38 16q22.1(chr16:66945487-67024713)x3 http://identifiers.org/clinvar/152801 ^@ GRCh38/hg38 20q12(chr20:42478707-42551910)x1 http://identifiers.org/clinvar/152802 ^@ GRCh38/hg38 1q42.12(chr1:225730526-225894702)x1 http://identifiers.org/clinvar/152803 ^@ GRCh38/hg38 5q12.1(chr5:60724569-60859782)x1 http://identifiers.org/clinvar/152804 ^@ GRCh38/hg38 8p23.1(chr8:6303909-6412405)x3 http://identifiers.org/clinvar/152805 ^@ NR_030321.1(MIR590):n.-137772_877124dup http://identifiers.org/clinvar/152806 ^@ GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3 http://identifiers.org/clinvar/152807 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 http://identifiers.org/clinvar/152808 ^@ GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3 http://identifiers.org/clinvar/152813 ^@ GRCh38/hg38 Xp11.21-11.1(chrX:57817579-58517661)x3 http://identifiers.org/clinvar/152814 ^@ GRCh38/hg38 11p12(chr11:36952374-41696829)x1 http://identifiers.org/clinvar/152815 ^@ GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3 http://identifiers.org/clinvar/152816 ^@ GRCh38/hg38 2p25.3(chr2:1110952-1714227)x3 http://identifiers.org/clinvar/152817 ^@ GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3 http://identifiers.org/clinvar/152818 ^@ GRCh38/hg38 22q11.21(chr22:18907322-19380404)x3 http://identifiers.org/clinvar/152819 ^@ GRCh38/hg38 10q11.21-11.22(chr10:45247429-45768908)x3 http://identifiers.org/clinvar/152820 ^@ GRCh38/hg38 14q31.1(chr14:80627888-80771597)x1 http://identifiers.org/clinvar/152821 ^@ GRCh38/hg38 14q21.2-21.3(chr14:46644863-46788500)x1 http://identifiers.org/clinvar/152822 ^@ GRCh38/hg38 14q21.2-21.3(chr14:45994462-47317094)x3 http://identifiers.org/clinvar/152823 ^@ GRCh38/hg38 14q21.3(chr14:47659636-47746404)x1 http://identifiers.org/clinvar/152824 ^@ GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 http://identifiers.org/clinvar/152825 ^@ GRCh38/hg38 12q24.12(chr12:111746317-111815065)x3 http://identifiers.org/clinvar/152826 ^@ GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3 http://identifiers.org/clinvar/152827 ^@ GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3 http://identifiers.org/clinvar/152828 ^@ GRCh38/hg38 11q14.1(chr11:84241605-84580716)x3 http://identifiers.org/clinvar/152829 ^@ GRCh38/hg38 12q23.1(chr12:100058819-100217800)x1 http://identifiers.org/clinvar/152830 ^@ GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3 http://identifiers.org/clinvar/152831 ^@ GRCh38/hg38 10q25.1(chr10:104738435-104950156)x1 http://identifiers.org/clinvar/152832 ^@ GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1 http://identifiers.org/clinvar/152833 ^@ GRCh38/hg38 1q31.1(chr1:186356477-186580632)x3 http://identifiers.org/clinvar/152834 ^@ GRCh38/hg38 11p15.5(chr11:2454516-2461603)x1 http://identifiers.org/clinvar/152835 ^@ GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3 http://identifiers.org/clinvar/152836 ^@ GRCh38/hg38 11p15.1(chr11:20497522-20655482)x3 http://identifiers.org/clinvar/152837 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/152838 ^@ GRCh38/hg38 1q22(chr1:155960118-156013943)x3 http://identifiers.org/clinvar/152839 ^@ GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 http://identifiers.org/clinvar/152840 ^@ GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 http://identifiers.org/clinvar/152841 ^@ GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 http://identifiers.org/clinvar/152842 ^@ GRCh38/hg38 2p23.3(chr2:24732367-24876531)x3 http://identifiers.org/clinvar/152843 ^@ GRCh38/hg38 2p16.3(chr2:47663853-47785728)x1 http://identifiers.org/clinvar/152844 ^@ GRCh38/hg38 2q31.1(chr2:170800982-170918434)x3 http://identifiers.org/clinvar/152845 ^@ GRCh38/hg38 2q36.3(chr2:226913957-226978129)x1 http://identifiers.org/clinvar/152846 ^@ GRCh38/hg38 2p23.2(chr2:28689225-28954146)x3 http://identifiers.org/clinvar/152847 ^@ GRCh38/hg38 2p16.3(chr2:50682627-51107991)x1 http://identifiers.org/clinvar/152848 ^@ GRCh38/hg38 1p34.3(chr1:39415941-39447541)x1 http://identifiers.org/clinvar/152849 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 http://identifiers.org/clinvar/152850 ^@ GRCh38/hg38 19q13.42(chr19:53692245-53808292)x3 http://identifiers.org/clinvar/152851 ^@ GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 http://identifiers.org/clinvar/152852 ^@ GRCh38/hg38 19q13.43(chr19:56879333-57167550)x3 http://identifiers.org/clinvar/152853 ^@ GRCh38/hg38 19q13.43(chr19:57546443-57889946)x3 http://identifiers.org/clinvar/152854 ^@ GRCh38/hg38 18q23(chr18:75875505-80252090)x1 http://identifiers.org/clinvar/152855 ^@ GRCh38/hg38 18q22.1(chr18:66437554-66649096)x1 http://identifiers.org/clinvar/152856 ^@ GRCh38/hg38 17q25.1(chr17:73031361-73264388)x3 http://identifiers.org/clinvar/152857 ^@ GRCh38/hg38 17p13.3(chr17:1348488-1358016)x3 http://identifiers.org/clinvar/152858 ^@ GRCh38/hg38 17p13.3(chr17:179378-813490)x1 http://identifiers.org/clinvar/152859 ^@ GRCh38/hg38 20p12.1(chr20:14586509-14818511)x1 http://identifiers.org/clinvar/152860 ^@ GRCh38/hg38 Xp11.23(chrX:49862612-49964651)x4 http://identifiers.org/clinvar/152861 ^@ GRCh38/hg38 Xp11.23(chrX:49972424-50012442)x3 http://identifiers.org/clinvar/152862 ^@ GRCh38/hg38 4q13.1-13.2(chr4:63868950-65648341)x1 http://identifiers.org/clinvar/152863 ^@ GRCh38/hg38 Xp22.33(chrX:1643593-2658702)x3 http://identifiers.org/clinvar/152864 ^@ GRCh38/hg38 1p21.1(chr1:102983807-105059200)x1 http://identifiers.org/clinvar/152865 ^@ GRCh38/hg38 2q22.1(chr2:136863073-138263550)x3 http://identifiers.org/clinvar/152866 ^@ GRCh38/hg38 4q32.1(chr4:157629491-158280863)x1 http://identifiers.org/clinvar/152867 ^@ GRCh38/hg38 11p12(chr11:36487236-40907935)x1 http://identifiers.org/clinvar/152870 ^@ GRCh38/hg38 8q24.13(chr8:125084554-125157061)x1 http://identifiers.org/clinvar/152871 ^@ GRCh38/hg38 8p12(chr8:32713114-33352866)x1 http://identifiers.org/clinvar/152872 ^@ GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1 http://identifiers.org/clinvar/152873 ^@ GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3 http://identifiers.org/clinvar/152874 ^@ GRCh38/hg38 17p13.1(chr17:9395750-9464129)x1 http://identifiers.org/clinvar/152875 ^@ GRCh38/hg38 17p12(chr17:14186983-15570276)x3 http://identifiers.org/clinvar/152876 ^@ GRCh38/hg38 Xp21.2(chrX:30027017-30322887)x0 http://identifiers.org/clinvar/152877 ^@ GRCh38/hg38 6q21(chr6:107445281-110547907)x1 http://identifiers.org/clinvar/152878 ^@ GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3 http://identifiers.org/clinvar/152879 ^@ GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 http://identifiers.org/clinvar/152880 ^@ GRCh38/hg38 16q23.3(chr16:82184892-82652389)x3 http://identifiers.org/clinvar/152881 ^@ GRCh38/hg38 16q24.1(chr16:86271377-86672163)x3 http://identifiers.org/clinvar/152882 ^@ GRCh38/hg38 5q35.3(chr5:178923770-178973462)x3 http://identifiers.org/clinvar/152883 ^@ GRCh38/hg38 5p15.1(chr5:16687561-16803648)x3 http://identifiers.org/clinvar/152884 ^@ GRCh38/hg38 4q22.1-22.2(chr4:90585759-94055316)x3 http://identifiers.org/clinvar/152885 ^@ GRCh38/hg38 4q22.2-22.3(chr4:94071164-94561427)x4 http://identifiers.org/clinvar/152886 ^@ GRCh38/hg38 4q31.23(chr4:147920951-148356485)x1 http://identifiers.org/clinvar/152888 ^@ GRCh38/hg38 2p25.3(chr2:17019-2305267)x1 http://identifiers.org/clinvar/152889 ^@ GRCh38/hg38 16p13.3(chr16:43722-308914)x3 http://identifiers.org/clinvar/152893 ^@ GRCh38/hg38 4q21.3(chr4:86276186-86884105)x1 http://identifiers.org/clinvar/152894 ^@ GRCh38/hg38 4q25(chr4:109355081-109404907)x1 http://identifiers.org/clinvar/152895 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2644029-3001855)x3 http://identifiers.org/clinvar/152896 ^@ GRCh38/hg38 Xq13.1(chrX:71991402-72276492)x2 http://identifiers.org/clinvar/152897 ^@ GRCh38/hg38 Xq21.31-22.1(chrX:87807750-100286152)x3 http://identifiers.org/clinvar/152898 ^@ GRCh38/hg38 Xp22.33(chrX:21267-2299223)x1 http://identifiers.org/clinvar/152899 ^@ GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 http://identifiers.org/clinvar/152900 ^@ GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 http://identifiers.org/clinvar/152901 ^@ GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3 http://identifiers.org/clinvar/152902 ^@ GRCh38/hg38 Xq22.2(chrX:103602874-103881017)x2 http://identifiers.org/clinvar/152903 ^@ GRCh38/hg38 Xq28(chrX:150574214-150838596)x2 http://identifiers.org/clinvar/152904 ^@ GRCh38/hg38 3q12.3(chr3:101626311-101744959)x3 http://identifiers.org/clinvar/152905 ^@ GRCh38/hg38 Yp11.2(chrY:1643593-2658702)x3 http://identifiers.org/clinvar/152906 ^@ GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 http://identifiers.org/clinvar/152907 ^@ GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 http://identifiers.org/clinvar/152908 ^@ GRCh38/hg38 15q12-13.1(chr15:27713721-28154050)x3 http://identifiers.org/clinvar/152909 ^@ GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 http://identifiers.org/clinvar/152910 ^@ GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 http://identifiers.org/clinvar/152911 ^@ GRCh38/hg38 7p22.3(chr7:689554-854872)x3 http://identifiers.org/clinvar/152912 ^@ GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 http://identifiers.org/clinvar/152913 ^@ GRCh38/hg38 7q35-36.1(chr7:147824018-148403318)x3 http://identifiers.org/clinvar/152914 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 http://identifiers.org/clinvar/152915 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 http://identifiers.org/clinvar/152916 ^@ GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3 http://identifiers.org/clinvar/152917 ^@ GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 http://identifiers.org/clinvar/152918 ^@ GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1 http://identifiers.org/clinvar/152919 ^@ GRCh38/hg38 5q15(chr5:93812177-94727962)x1 http://identifiers.org/clinvar/152920 ^@ GRCh38/hg38 4q21.23-21.3(chr4:85972086-87031375)x1 http://identifiers.org/clinvar/152921 ^@ GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 http://identifiers.org/clinvar/152922 ^@ GRCh38/hg38 4q35.2(chr4:186625270-190018185)x1 http://identifiers.org/clinvar/152923 ^@ GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1 http://identifiers.org/clinvar/152924 ^@ GRCh38/hg38 3q29(chr3:196832991-197182319)x3 http://identifiers.org/clinvar/152925 ^@ GRCh38/hg38 3q29(chr3:196841258-197590173)x3 http://identifiers.org/clinvar/152926 ^@ GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 http://identifiers.org/clinvar/152927 ^@ GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1 http://identifiers.org/clinvar/152928 ^@ GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 http://identifiers.org/clinvar/152929 ^@ GRCh38/hg38 15q26.1(chr15:92963659-93031241)x1 http://identifiers.org/clinvar/152930 ^@ GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 http://identifiers.org/clinvar/152931 ^@ GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3 http://identifiers.org/clinvar/152932 ^@ GRCh38/hg38 12p13.31(chr12:8839030-9134304)x3 http://identifiers.org/clinvar/152933 ^@ GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3 http://identifiers.org/clinvar/152934 ^@ GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 http://identifiers.org/clinvar/152935 ^@ GRCh38/hg38 12p11.22(chr12:29676920-29800305)x1 http://identifiers.org/clinvar/152936 ^@ GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1 http://identifiers.org/clinvar/152937 ^@ GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 http://identifiers.org/clinvar/152939 ^@ GRCh38/hg38 2p16.3(chr2:49072029-49554569)x1 http://identifiers.org/clinvar/152940 ^@ GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3 http://identifiers.org/clinvar/152941 ^@ GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1 http://identifiers.org/clinvar/152943 ^@ GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 http://identifiers.org/clinvar/152944 ^@ GRCh38/hg38 17q22(chr17:53694140-53981902)x1 http://identifiers.org/clinvar/152945 ^@ GRCh38/hg38 19p12(chr19:23549190-24195691)x3 http://identifiers.org/clinvar/152946 ^@ GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 http://identifiers.org/clinvar/152947 ^@ GRCh38/hg38 Xp22.2-22.13(chrX:17310142-17506167)x3 http://identifiers.org/clinvar/152948 ^@ GRCh38/hg38 2q21.1-21.2(chr2:131100857-132436431)x3 http://identifiers.org/clinvar/152949 ^@ GRCh38/hg38 Xp21.1(chrX:32609017-33381520)x3 http://identifiers.org/clinvar/152950 ^@ GRCh38/hg38 15q26.2(chr15:96330212-96332349)x3 http://identifiers.org/clinvar/152951 ^@ GRCh38/hg38 2q36.3(chr2:229648729-230055624)x1 http://identifiers.org/clinvar/152952 ^@ GRCh38/hg38 10q22.3(chr10:76036348-76702491)x1 http://identifiers.org/clinvar/152953 ^@ GRCh38/hg38 18q23(chr18:78624742-79170040)x3 http://identifiers.org/clinvar/152954 ^@ GRCh38/hg38 1q44(chr1:247930527-248622261)x3 http://identifiers.org/clinvar/152955 ^@ GRCh38/hg38 2p16.3(chr2:50654857-50720591)x1 http://identifiers.org/clinvar/152956 ^@ GRCh38/hg38 6p25.3(chr6:163083-184838)x1 http://identifiers.org/clinvar/152957 ^@ GRCh38/hg38 Xq28(chrX:153689819-153691535)x3 http://identifiers.org/clinvar/152958 ^@ GRCh38/hg38 15q11.2(chr15:22790247-23066575)x1 http://identifiers.org/clinvar/152959 ^@ GRCh38/hg38 15q15.3(chr15:43559350-43659103)x3 http://identifiers.org/clinvar/152960 ^@ GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1 http://identifiers.org/clinvar/152961 ^@ GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1 http://identifiers.org/clinvar/152962 ^@ GRCh38/hg38 Xp21.1(chrX:31645986-31773985)x1 http://identifiers.org/clinvar/152963 ^@ GRCh38/hg38 19p13.2(chr19:6916228-7103344)x3 http://identifiers.org/clinvar/152964 ^@ GRCh38/hg38 14q21.1(chr14:40549523-40765447)x1 http://identifiers.org/clinvar/152965 ^@ GRCh38/hg38 16p11.2(chr16:32459304-33970667)x1 http://identifiers.org/clinvar/152966 ^@ GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1 http://identifiers.org/clinvar/152967 ^@ GRCh38/hg38 16p13.3(chr16:6253203-6552025)x1 http://identifiers.org/clinvar/152968 ^@ GRCh38/hg38 3q26.33(chr3:181644991-181751723)x3 http://identifiers.org/clinvar/152969 ^@ GRCh38/hg38 8p23.1(chr8:7514108-7948707)x3 http://identifiers.org/clinvar/152970 ^@ GRCh38/hg38 10q26.11(chr10:117543285-117547455)x3 http://identifiers.org/clinvar/152971 ^@ GRCh38/hg38 20q13.32(chr20:58850610-58851543)x3 http://identifiers.org/clinvar/152972 ^@ GRCh38/hg38 22q11.21(chr22:19765770-19769469)x3 http://identifiers.org/clinvar/152973 ^@ GRCh38/hg38 2q31.1(chr2:176124494-176124918)x3 http://identifiers.org/clinvar/152974 ^@ GRCh38/hg38 2p21(chr2:44941697-44942746)x3 http://identifiers.org/clinvar/152975 ^@ GRCh38/hg38 2p21(chr2:44944704-44945255)x3 http://identifiers.org/clinvar/152976 ^@ GRCh38/hg38 7q36.3(chr7:155807064-155811292)x3 http://identifiers.org/clinvar/152977 ^@ GRCh38/hg38 9q33.3(chr9:126688184-126693311)x3 http://identifiers.org/clinvar/152978 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1 http://identifiers.org/clinvar/152979 ^@ GRCh38/hg38 1p31.3(chr1:61228279-61733985)x3 http://identifiers.org/clinvar/152980 ^@ GRCh38/hg38 Yq11.223-11.23(chrY:23127736-24882383)x0 http://identifiers.org/clinvar/152981 ^@ GRCh38/hg38 5p15.33(chr5:71789-116747)x3 http://identifiers.org/clinvar/152982 ^@ GRCh38/hg38 11p15.5(chr11:1998451-1999317)x3 http://identifiers.org/clinvar/152983 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1 http://identifiers.org/clinvar/152984 ^@ GRCh38/hg38 18q12.1(chr18:32462656-34463256)x1 http://identifiers.org/clinvar/152985 ^@ GRCh38/hg38 20p11.21(chr20:25485770-25612650)x3 http://identifiers.org/clinvar/152986 ^@ GRCh38/hg38 3q26.1(chr3:163265347-163834188)x1 http://identifiers.org/clinvar/152987 ^@ GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3 http://identifiers.org/clinvar/152988 ^@ GRCh38/hg38 5p15.33(chr5:71789-138331)x3 http://identifiers.org/clinvar/152989 ^@ GRCh38/hg38 3q27.2(chr3:185151277-185558406)x1 http://identifiers.org/clinvar/152990 ^@ GRCh38/hg38 13q34(chr13:114224886-114327173)x3 http://identifiers.org/clinvar/152991 ^@ GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 http://identifiers.org/clinvar/152992 ^@ GRCh38/hg38 13q21.31(chr13:63872522-64339393)x1 http://identifiers.org/clinvar/152993 ^@ GRCh38/hg38 2q13(chr2:109975055-110207160)x1 http://identifiers.org/clinvar/152994 ^@ GRCh38/hg38 8p23.1(chr8:7381969-8222339)x1 http://identifiers.org/clinvar/152995 ^@ GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 http://identifiers.org/clinvar/152996 ^@ GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3 http://identifiers.org/clinvar/152997 ^@ GRCh38/hg38 6p21.33(chr6:31980422-32041505)x1 http://identifiers.org/clinvar/152998 ^@ GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 http://identifiers.org/clinvar/152999 ^@ GRCh38/hg38 5p14.3(chr5:20474639-20673991)x1 http://identifiers.org/clinvar/153000 ^@ GRCh38/hg38 6q27(chr6:170499112-170532540)x1 http://identifiers.org/clinvar/153001 ^@ GRCh38/hg38 Yq11.223-11.23(chrY:23132736-24882383)x0 http://identifiers.org/clinvar/153002 ^@ GRCh38/hg38 15q11.2(chr15:22796648-23066575)x1 http://identifiers.org/clinvar/153003 ^@ GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 http://identifiers.org/clinvar/153004 ^@ GRCh38/hg38 19p13.3(chr19:293260-314516)x3 http://identifiers.org/clinvar/153005 ^@ GRCh38/hg38 Xq27.3(chrX:144251509-144488776)x2 http://identifiers.org/clinvar/153006 ^@ GRCh38/hg38 17q21.31(chr17:46176989-46661960)x1 http://identifiers.org/clinvar/153007 ^@ GRCh38/hg38 5q13.2(chr5:70076645-71090773)x1 http://identifiers.org/clinvar/153008 ^@ GRCh38/hg38 13q31.3(chr13:93601411-93624805)x1 http://identifiers.org/clinvar/153009 ^@ GRCh38/hg38 8q23.2-23.3(chr8:110718242-112097796)x3 http://identifiers.org/clinvar/153010 ^@ GRCh38/hg38 2q37.3(chr2:241910415-242065208)x1 http://identifiers.org/clinvar/153011 ^@ GRCh38/hg38 18q23(chr18:80002403-80086862)x3 http://identifiers.org/clinvar/153012 ^@ GRCh38/hg38 5q21.1(chr5:101813186-102088050)x1 http://identifiers.org/clinvar/153013 ^@ GRCh38/hg38 13q34(chr13:114233086-114289238)x3 http://identifiers.org/clinvar/153014 ^@ GRCh38/hg38 16p11.2(chr16:32055646-33970667)x3 http://identifiers.org/clinvar/153015 ^@ GRCh38/hg38 7p22.3(chr7:183570-229852)x3 http://identifiers.org/clinvar/153016 ^@ GRCh38/hg38 Xq21.1(chrX:81351461-81829973)x2 http://identifiers.org/clinvar/153017 ^@ GRCh38/hg38 Xq21.32(chrX:94060113-94215237)x2 http://identifiers.org/clinvar/153018 ^@ GRCh38/hg38 13q21.32(chr13:66753669-66767786)x1 http://identifiers.org/clinvar/153019 ^@ GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1 http://identifiers.org/clinvar/153020 ^@ GRCh38/hg38 8q24.3(chr8:144972242-144997345)x1 http://identifiers.org/clinvar/153021 ^@ GRCh38/hg38 2p21(chr2:44283642-44298735)x1 http://identifiers.org/clinvar/153022 ^@ GRCh38/hg38 Xp22.31(chrX:8480218-8568401)x3 http://identifiers.org/clinvar/153023 ^@ GRCh38/hg38 8p11.21-11.1(chr8:43115130-43674590)x3 http://identifiers.org/clinvar/153024 ^@ GRCh38/hg38 11q25(chr11:134511738-134850450)x3 http://identifiers.org/clinvar/153025 ^@ GRCh38/hg38 Yq11.221(chrY:13592883-13948072)x2 http://identifiers.org/clinvar/153026 ^@ GRCh38/hg38 6p25.3(chr6:259881-293615)x1 http://identifiers.org/clinvar/153027 ^@ GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3 http://identifiers.org/clinvar/153028 ^@ GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 http://identifiers.org/clinvar/153029 ^@ GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3 http://identifiers.org/clinvar/153030 ^@ GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 http://identifiers.org/clinvar/153031 ^@ GRCh38/hg38 6p25.3(chr6:259881-289174)x1 http://identifiers.org/clinvar/153032 ^@ GRCh38/hg38 6p25.3(chr6:259318-289174)x3 http://identifiers.org/clinvar/153033 ^@ GRCh38/hg38 10q26.3(chr10:133432242-133558988)x3 http://identifiers.org/clinvar/153034 ^@ GRCh38/hg38 10q26.3(chr10:133465763-133558988)x3 http://identifiers.org/clinvar/153035 ^@ GRCh38/hg38 Xq22.1(chrX:101854039-101857332)x0 http://identifiers.org/clinvar/153036 ^@ GRCh38/hg38 Xp11.3(chrX:42881484-43748896)x0 http://identifiers.org/clinvar/153037 ^@ GRCh38/hg38 Xp22.33(chrX:2929855-3238763)x2 http://identifiers.org/clinvar/153038 ^@ GRCh38/hg38 Yq11.223-11.23(chrY:23127722-24882383)x0 http://identifiers.org/clinvar/153039 ^@ GRCh38/hg38 Xq26.3(chrX:135591232-135741777)x2 http://identifiers.org/clinvar/153040 ^@ GRCh38/hg38 Xp22.33(chrX:2295867-2345083)x0 http://identifiers.org/clinvar/153041 ^@ GRCh38/hg38 15q13.1-13.2(chr15:29452075-30073921)x3 http://identifiers.org/clinvar/153042 ^@ GRCh38/hg38 9q33.1(chr9:117027717-119196572)x3 http://identifiers.org/clinvar/153043 ^@ GRCh38/hg38 8p11.1(chr8:43255351-43673207)x3 http://identifiers.org/clinvar/153044 ^@ GRCh38/hg38 5q13.2(chr5:71915937-72562961)x3 http://identifiers.org/clinvar/153045 ^@ GRCh38/hg38 Xq12(chrX:65901792-66733457)x2 http://identifiers.org/clinvar/153046 ^@ GRCh38/hg38 5q35.3(chr5:181125345-181238978)x3 http://identifiers.org/clinvar/153047 ^@ GRCh38/hg38 6q21(chr6:110020558-111200711)x3 http://identifiers.org/clinvar/153048 ^@ GRCh38/hg38 4q22.3-23(chr4:97881693-98101807)x1 http://identifiers.org/clinvar/153049 ^@ GRCh38/hg38 7q36.2(chr7:153590855-154359847)x3 http://identifiers.org/clinvar/153050 ^@ GRCh38/hg38 8p23.1(chr8:8496152-9000403)x3 http://identifiers.org/clinvar/153051 ^@ GRCh38/hg38 21q21.1(chr21:20228918-21201102)x3 http://identifiers.org/clinvar/153052 ^@ GRCh38/hg38 3q25.1(chr3:151396286-151842231)x1 http://identifiers.org/clinvar/153053 ^@ GRCh38/hg38 9p21.2(chr9:26162117-26760537)x3 http://identifiers.org/clinvar/153054 ^@ GRCh38/hg38 Yp11.2(chrY:2786811-2863458)x3 http://identifiers.org/clinvar/153055 ^@ GRCh38/hg38 5q35.1(chr5:169309260-169816053)x3 http://identifiers.org/clinvar/153056 ^@ GRCh38/hg38 18q11.2(chr18:23477183-23753724)x1 http://identifiers.org/clinvar/153057 ^@ GRCh38/hg38 Xq21.32-21.33(chrX:93922487-95022681)x1 http://identifiers.org/clinvar/153058 ^@ GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3 http://identifiers.org/clinvar/153059 ^@ GRCh38/hg38 17q12(chr17:36566143-37808105)x3 http://identifiers.org/clinvar/153060 ^@ GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 http://identifiers.org/clinvar/153061 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 http://identifiers.org/clinvar/153062 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1 http://identifiers.org/clinvar/153063 ^@ GRCh38/hg38 5q34(chr5:164233194-165193494)x1 http://identifiers.org/clinvar/153064 ^@ GRCh38/hg38 Xp11.3(chrX:46186273-46637760)x2 http://identifiers.org/clinvar/153065 ^@ GRCh38/hg38 10q23.1(chr10:83412936-84584646)x3 http://identifiers.org/clinvar/153066 ^@ GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 http://identifiers.org/clinvar/153067 ^@ GRCh38/hg38 7q31.1(chr7:111470631-111641428)x1 http://identifiers.org/clinvar/153068 ^@ GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 http://identifiers.org/clinvar/153069 ^@ GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 http://identifiers.org/clinvar/153070 ^@ GRCh38/hg38 17q21.31(chr17:46133397-46710558)x3 http://identifiers.org/clinvar/153071 ^@ GRCh38/hg38 1q31.3(chr1:195293008-195379302)x1 http://identifiers.org/clinvar/153072 ^@ GRCh38/hg38 10q23.1(chr10:84874110-85019543)x3 http://identifiers.org/clinvar/153073 ^@ GRCh38/hg38 17p11.2(chr17:21530124-22176920)x3 http://identifiers.org/clinvar/153074 ^@ GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 http://identifiers.org/clinvar/153075 ^@ GRCh38/hg38 4p14(chr4:39222108-39491610)x3 http://identifiers.org/clinvar/153076 ^@ GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 http://identifiers.org/clinvar/153077 ^@ GRCh38/hg38 7q11.23(chr7:76322093-76473764)x1 http://identifiers.org/clinvar/153078 ^@ GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 http://identifiers.org/clinvar/153079 ^@ GRCh38/hg38 6p21.33(chr6:31971993-32012974)x1 http://identifiers.org/clinvar/153080 ^@ GRCh38/hg38 2p21(chr2:44004254-44049785)x1 http://identifiers.org/clinvar/153081 ^@ GRCh38/hg38 1p36.11(chr1:25376278-25586537)x3 http://identifiers.org/clinvar/153082 ^@ GRCh38/hg38 6q27(chr6:168018868-168148542)x3 http://identifiers.org/clinvar/153083 ^@ GRCh38/hg38 16q23.1(chr16:77637681-78064640)x1 http://identifiers.org/clinvar/153084 ^@ GRCh38/hg38 16q23.2(chr16:81017312-81042801)x3 http://identifiers.org/clinvar/153085 ^@ GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 http://identifiers.org/clinvar/153086 ^@ GRCh38/hg38 10q26.3(chr10:133577759-133597879)x3 http://identifiers.org/clinvar/153087 ^@ GRCh38/hg38 2q13(chr2:110143902-110222910)x1 http://identifiers.org/clinvar/153088 ^@ GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 http://identifiers.org/clinvar/153089 ^@ GRCh38/hg38 2p25.3(chr2:39193-992648)x1 http://identifiers.org/clinvar/153090 ^@ GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1 http://identifiers.org/clinvar/153091 ^@ GRCh38/hg38 6q27(chr6:168046443-168256239)x3 http://identifiers.org/clinvar/153092 ^@ GRCh38/hg38 9p24.1(chr9:4627565-4724294)x1 http://identifiers.org/clinvar/153093 ^@ GRCh38/hg38 14q21.2(chr14:44504286-44924259)x1 http://identifiers.org/clinvar/153094 ^@ GRCh38/hg38 Yp11.2(chrY:6724827-8695905)x2 http://identifiers.org/clinvar/153095 ^@ GRCh38/hg38 22q11.21(chr22:20540868-21020223)x3 http://identifiers.org/clinvar/153096 ^@ GRCh38/hg38 9p21.1(chr9:28670180-28745048)x1 http://identifiers.org/clinvar/153097 ^@ GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1 http://identifiers.org/clinvar/153098 ^@ GRCh38/hg38 9q12-21.11(chr9:61053889-67217006)x1 http://identifiers.org/clinvar/153099 ^@ GRCh38/hg38 9p24.3(chr9:204193-416351)x3 http://identifiers.org/clinvar/153100 ^@ GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3 http://identifiers.org/clinvar/153101 ^@ GRCh38/hg38 22q13.33(chr22:50055231-50202728)x1 http://identifiers.org/clinvar/153102 ^@ GRCh38/hg38 8p23.3(chr8:611175-1371695)x3 http://identifiers.org/clinvar/153103 ^@ GRCh38/hg38 15q13.3(chr15:31806467-32217725)x3 http://identifiers.org/clinvar/153104 ^@ GRCh38/hg38 Xp22.31(chrX:6837101-7319694)x2 http://identifiers.org/clinvar/153105 ^@ GRCh38/hg38 Xq28(chrX:154503086-154604471)x2 http://identifiers.org/clinvar/153106 ^@ GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3 http://identifiers.org/clinvar/153107 ^@ GRCh38/hg38 Xq21.33(chrX:95120944-95822404)x1 http://identifiers.org/clinvar/153108 ^@ GRCh38/hg38 1p35.3-35.2(chr1:29860227-30864901)x3 http://identifiers.org/clinvar/153109 ^@ GRCh38/hg38 Xp22.31(chrX:6652896-8129470)x3 http://identifiers.org/clinvar/153110 ^@ GRCh38/hg38 1q44(chr1:246097511-246265839)x1 http://identifiers.org/clinvar/153111 ^@ GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1 http://identifiers.org/clinvar/153112 ^@ GRCh38/hg38 Xp22.33(chrX:330559-663996)x3 http://identifiers.org/clinvar/153113 ^@ GRCh38/hg38 Xp11.23(chrX:47880674-48344725)x2 http://identifiers.org/clinvar/153114 ^@ GRCh38/hg38 2p25.3(chr2:888150-1784776)x3 http://identifiers.org/clinvar/153115 ^@ GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3 http://identifiers.org/clinvar/153116 ^@ GRCh38/hg38 13q13.2-13.3(chr13:34151122-35159055)x1 http://identifiers.org/clinvar/153117 ^@ GRCh38/hg38 9p24.1(chr9:7682729-8065192)x1 http://identifiers.org/clinvar/153118 ^@ GRCh38/hg38 12p12.3(chr12:15964371-16339179)x1 http://identifiers.org/clinvar/153119 ^@ GRCh38/hg38 Xq22.3(chrX:105915695-106378058)x3 http://identifiers.org/clinvar/153120 ^@ GRCh38/hg38 2q23.3(chr2:149699636-150438182)x3 http://identifiers.org/clinvar/153121 ^@ GRCh38/hg38 Xq21.1(chrX:79272558-79690649)x2 http://identifiers.org/clinvar/153122 ^@ GRCh38/hg38 Xp21.1(chrX:37379580-37619860)x3 http://identifiers.org/clinvar/153123 ^@ GRCh38/hg38 13q34(chr13:114147230-114277653)x3 http://identifiers.org/clinvar/153124 ^@ GRCh38/hg38 12p11.22(chr12:28942339-29418625)x3 http://identifiers.org/clinvar/153125 ^@ GRCh38/hg38 11p15.1(chr11:21145518-21564644)x1 http://identifiers.org/clinvar/153126 ^@ GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1 http://identifiers.org/clinvar/153127 ^@ GRCh38/hg38 7p21.3(chr7:11181583-12423003)x3 http://identifiers.org/clinvar/153128 ^@ GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 http://identifiers.org/clinvar/153129 ^@ GRCh38/hg38 Xq21.33(chrX:94831550-95426640)x2 http://identifiers.org/clinvar/153130 ^@ GRCh38/hg38 Xq21.33(chrX:95605138-95656490)x2 http://identifiers.org/clinvar/153131 ^@ GRCh38/hg38 Xq28(chrX:155775219-156003242)x1 http://identifiers.org/clinvar/153132 ^@ GRCh38/hg38 10q11.22(chr10:46169143-46331351)x1 http://identifiers.org/clinvar/153133 ^@ GRCh38/hg38 Yp11.2(chrY:1000807-1223133)x1 http://identifiers.org/clinvar/153134 ^@ GRCh38/hg38 16p13.11-12.3(chr16:16450842-16741305)x4 http://identifiers.org/clinvar/153135 ^@ GRCh38/hg38 15q13.3(chr15:32082437-32247465)x3 http://identifiers.org/clinvar/153136 ^@ GRCh38/hg38 Yp11.2(chrY:1112351-1702424)x3 http://identifiers.org/clinvar/153138 ^@ GRCh38/hg38 Xp11.22(chrX:53529974-53595774)x2 http://identifiers.org/clinvar/153139 ^@ GRCh38/hg38 15q13.3(chr15:32275073-32569425)x3 http://identifiers.org/clinvar/153140 ^@ GRCh38/hg38 13q21.32(chr13:66698285-66929256)x1 http://identifiers.org/clinvar/153141 ^@ GRCh38/hg38 1p12(chr1:120007131-120090834)x1 http://identifiers.org/clinvar/153142 ^@ GRCh38/hg38 15q13.3(chr15:32633290-32781366)x3 http://identifiers.org/clinvar/153144 ^@ GRCh38/hg38 17p13.3(chr17:1005522-1373762)x3 http://identifiers.org/clinvar/153145 ^@ GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3 http://identifiers.org/clinvar/153146 ^@ GRCh38/hg38 8p22(chr8:15784703-16404943)x3 http://identifiers.org/clinvar/153147 ^@ GRCh38/hg38 Xq26.2(chrX:133175259-133355867)x2 http://identifiers.org/clinvar/153149 ^@ GRCh38/hg38 15q11.2(chr15:24233258-24955243)x3 http://identifiers.org/clinvar/153150 ^@ GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 http://identifiers.org/clinvar/153151 ^@ GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1 http://identifiers.org/clinvar/153159 ^@ GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1 http://identifiers.org/clinvar/153161 ^@ GRCh38/hg38 Xp11.4-11.3(chrX:41827804-43285505)x1 http://identifiers.org/clinvar/153164 ^@ GRCh38/hg38 14q23.3(chr14:66803404-66977069)x1 http://identifiers.org/clinvar/153165 ^@ GRCh38/hg38 Xq28(chrX:148959372-149023968)x1 http://identifiers.org/clinvar/153166 ^@ GRCh38/hg38 16p13.13(chr16:12124659-12483947)x1 http://identifiers.org/clinvar/153168 ^@ GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960) http://identifiers.org/clinvar/153169 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3 http://identifiers.org/clinvar/153170 ^@ GRCh38/hg38 22q12.3(chr22:36218250-36311777)x3 http://identifiers.org/clinvar/153172 ^@ GRCh38/hg38 13q21.32-21.33(chr13:66118423-70884392)x3 http://identifiers.org/clinvar/153176 ^@ GRCh38/hg38 4q35.2(chr4:189588653-190036318) http://identifiers.org/clinvar/153177 ^@ GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 http://identifiers.org/clinvar/153178 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 http://identifiers.org/clinvar/153179 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 http://identifiers.org/clinvar/153183 ^@ GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 http://identifiers.org/clinvar/153184 ^@ GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 http://identifiers.org/clinvar/153185 ^@ GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 http://identifiers.org/clinvar/153191 ^@ GRCh38/hg38 Xp22.31(chrX:8627778-8734240)x2 http://identifiers.org/clinvar/153192 ^@ GRCh38/hg38 4q31.21-31.22(chr4:145841034-146227595)x1 http://identifiers.org/clinvar/153193 ^@ GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 http://identifiers.org/clinvar/153194 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3 http://identifiers.org/clinvar/153195 ^@ GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 http://identifiers.org/clinvar/153196 ^@ GRCh38/hg38 Xq21.31-21.32(chrX:92274305-92819255)x1 http://identifiers.org/clinvar/153197 ^@ GRCh38/hg38 16p13.3(chr16:7692462-7778862)x3 http://identifiers.org/clinvar/153199 ^@ GRCh38/hg38 Xq22.3(chrX:108213060-108266828)x2 http://identifiers.org/clinvar/153200 ^@ GRCh38/hg38 10p14(chr10:12051410-12116236)x3 http://identifiers.org/clinvar/153203 ^@ GRCh38/hg38 18q23(chr18:75712014-76239472)x3 http://identifiers.org/clinvar/153204 ^@ GRCh38/hg38 Xq21.1(chrX:77799457-77890125)x3 http://identifiers.org/clinvar/153206 ^@ GRCh38/hg38 17q21.31(chr17:45544831-46124104)x1 http://identifiers.org/clinvar/153207 ^@ GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 http://identifiers.org/clinvar/153208 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 http://identifiers.org/clinvar/153209 ^@ GRCh38/hg38 Xq23(chrX:111318320-111348178)x3 http://identifiers.org/clinvar/153210 ^@ GRCh38/hg38 11q22.1(chr11:98761073-99150243)x1 http://identifiers.org/clinvar/153211 ^@ GRCh38/hg38 Xq28(chrX:152856507-152873129)x3 http://identifiers.org/clinvar/153212 ^@ GRCh38/hg38 12q24.33(chr12:129318948-130000929)x3 http://identifiers.org/clinvar/153216 ^@ GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 http://identifiers.org/clinvar/153217 ^@ GRCh38/hg38 7p11.2(chr7:57193415-57818047)x3 http://identifiers.org/clinvar/153218 ^@ GRCh38/hg38 16p11.2(chr16:28696852-29039870)x1 http://identifiers.org/clinvar/153220 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 http://identifiers.org/clinvar/153221 ^@ GRCh38/hg38 3p26.3(chr3:20213-1755128)x1 http://identifiers.org/clinvar/153222 ^@ GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1 http://identifiers.org/clinvar/153224 ^@ GRCh37/hg19 1q21.1-21.2(chr1:145888925-148020200)x1 http://identifiers.org/clinvar/153225 ^@ GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1 http://identifiers.org/clinvar/153226 ^@ GRCh38/hg38 1q43(chr1:239288025-242458053)x1 http://identifiers.org/clinvar/153228 ^@ GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 http://identifiers.org/clinvar/153229 ^@ GRCh38/hg38 5p15.1(chr5:15497375-15776180)x1 http://identifiers.org/clinvar/153230 ^@ GRCh38/hg38 5q34(chr5:161954028-162107018)x1 http://identifiers.org/clinvar/153231 ^@ GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 http://identifiers.org/clinvar/153232 ^@ GRCh38/hg38 Xp11.21(chrX:56041093-57333244)x2 http://identifiers.org/clinvar/153233 ^@ GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3 http://identifiers.org/clinvar/153234 ^@ GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 http://identifiers.org/clinvar/153235 ^@ GRCh38/hg38 6q25.1(chr6:149056723-149435037)x1 http://identifiers.org/clinvar/153237 ^@ GRCh38/hg38 7q21.11(chr7:80627421-80651297)x0 http://identifiers.org/clinvar/153239 ^@ GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 http://identifiers.org/clinvar/153240 ^@ GRCh38/hg38 17p12(chr17:14184616-15581544)x3 http://identifiers.org/clinvar/153241 ^@ GRCh38/hg38 17p12(chr17:14184616-15581544)x1 http://identifiers.org/clinvar/153242 ^@ GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3 http://identifiers.org/clinvar/153245 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 http://identifiers.org/clinvar/153246 ^@ GRCh38/hg38 11p15.4(chr11:7359664-7657396)x1 http://identifiers.org/clinvar/153248 ^@ GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1 http://identifiers.org/clinvar/153249 ^@ GRCh38/hg38 17p11.2(chr17:19533508-19751472)x1 http://identifiers.org/clinvar/153250 ^@ GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1 http://identifiers.org/clinvar/153252 ^@ GRCh38/hg38 1p21.3(chr1:97835065-98270737)x1 http://identifiers.org/clinvar/153253 ^@ GRCh38/hg38 1p21.3(chr1:98603715-99120960)x1 http://identifiers.org/clinvar/153254 ^@ GRCh38/hg38 2q13(chr2:110631041-111007139)x1 http://identifiers.org/clinvar/153255 ^@ GRCh38/hg38 5q23.1(chr5:117648489-117898236)x1 http://identifiers.org/clinvar/153256 ^@ GRCh38/hg38 8p23.3(chr8:972534-1410990)x1 http://identifiers.org/clinvar/153258 ^@ GRCh38/hg38 14q12(chr14:26355822-26905434)x3 http://identifiers.org/clinvar/153259 ^@ GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3 http://identifiers.org/clinvar/153260 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3 http://identifiers.org/clinvar/153262 ^@ GRCh38/hg38 Xp11.22(chrX:53339720-53764162)x1 http://identifiers.org/clinvar/153263 ^@ GRCh38/hg38 16q23.3(chr16:82066303-83181227)x3 http://identifiers.org/clinvar/153264 ^@ GRCh38/hg38 18q12.3(chr18:41156104-42112882)x3 http://identifiers.org/clinvar/153265 ^@ GRCh38/hg38 Xq24(chrX:119800216-119839410)x2 http://identifiers.org/clinvar/153267 ^@ GRCh38/hg38 1p36.32(chr1:2688448-3286320)x3 http://identifiers.org/clinvar/153270 ^@ GRCh38/hg38 5q11.2(chr5:57383264-58030187)x3 http://identifiers.org/clinvar/153271 ^@ GRCh38/hg38 6q14.1(chr6:77637081-78262414)x3 http://identifiers.org/clinvar/153276 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1 http://identifiers.org/clinvar/153277 ^@ GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3 http://identifiers.org/clinvar/153279 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28701299-30094195)x1 http://identifiers.org/clinvar/153280 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1 http://identifiers.org/clinvar/153281 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 http://identifiers.org/clinvar/153282 ^@ GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 http://identifiers.org/clinvar/153283 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 http://identifiers.org/clinvar/153284 ^@ GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 http://identifiers.org/clinvar/153285 ^@ GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1 http://identifiers.org/clinvar/153286 ^@ GRCh38/hg38 5q12.3-13.1(chr5:66201296-68094987)x1 http://identifiers.org/clinvar/153287 ^@ GRCh38/hg38 1p21.2-21.1(chr1:101257066-102048164)x1 http://identifiers.org/clinvar/153288 ^@ GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 http://identifiers.org/clinvar/153289 ^@ GRCh38/hg38 17p12(chr17:14184616-15588218)x1 http://identifiers.org/clinvar/153292 ^@ GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 http://identifiers.org/clinvar/153294 ^@ GRCh38/hg38 16p13.3(chr16:6757672-6881013)x1 http://identifiers.org/clinvar/153295 ^@ GRCh38/hg38 15q25.2(chr15:83646695-84002267)x1 http://identifiers.org/clinvar/153297 ^@ GRCh38/hg38 6q25.3(chr6:158174555-158762476)x3 http://identifiers.org/clinvar/153302 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 http://identifiers.org/clinvar/153303 ^@ GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) http://identifiers.org/clinvar/153304 ^@ GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 http://identifiers.org/clinvar/153305 ^@ GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 http://identifiers.org/clinvar/153306 ^@ GRCh38/hg38 17p11.2(chr17:21311183-21542019)x1 http://identifiers.org/clinvar/153308 ^@ GRCh38/hg38 5p15.2(chr5:13790490-14186529)x4 http://identifiers.org/clinvar/153309 ^@ GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 http://identifiers.org/clinvar/153310 ^@ GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1 http://identifiers.org/clinvar/153311 ^@ GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1 http://identifiers.org/clinvar/153314 ^@ GRCh38/hg38 3q29(chr3:195998419-197629463)x3 http://identifiers.org/clinvar/153315 ^@ GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3 http://identifiers.org/clinvar/153317 ^@ GRCh38/hg38 4q31.3(chr4:151144531-151643648)x1 http://identifiers.org/clinvar/153318 ^@ GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 http://identifiers.org/clinvar/153319 ^@ GRCh38/hg38 Xp21.1(chrX:31695292-31840818)x0 http://identifiers.org/clinvar/153320 ^@ GRCh38/hg38 1q31.2(chr1:193211504-193302626)x3 http://identifiers.org/clinvar/153321 ^@ GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1 http://identifiers.org/clinvar/153324 ^@ GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3 http://identifiers.org/clinvar/153325 ^@ GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 http://identifiers.org/clinvar/153326 ^@ GRCh38/hg38 7q11.21(chr7:64879046-65086621)x1 http://identifiers.org/clinvar/153327 ^@ GRCh38/hg38 16p13.3(chr16:6375427-6877384)x1 http://identifiers.org/clinvar/153329 ^@ GRCh38/hg38 2p16.3(chr2:49069256-49563249)x1 http://identifiers.org/clinvar/153330 ^@ GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3 http://identifiers.org/clinvar/153331 ^@ GRCh38/hg38 16p13.3(chr16:7002372-7146613)x1 http://identifiers.org/clinvar/153332 ^@ GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1 http://identifiers.org/clinvar/153334 ^@ GRCh38/hg38 10p15.3(chr10:113358-557294)x1 http://identifiers.org/clinvar/153335 ^@ GRCh38/hg38 13q21.32(chr13:66786075-67110129)x1 http://identifiers.org/clinvar/153336 ^@ GRCh38/hg38 Xq23(chrX:110132832-111177628)x3 http://identifiers.org/clinvar/153337 ^@ GRCh37/hg19 1q21.1(chr1:144823069-145376074)x3 http://identifiers.org/clinvar/153338 ^@ GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3 http://identifiers.org/clinvar/153339 ^@ GRCh38/hg38 12q23.3(chr12:106804832-107556040)x3 http://identifiers.org/clinvar/153341 ^@ GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3 http://identifiers.org/clinvar/153342 ^@ GRCh38/hg38 Xp22.31(chrX:7989746-8507028)x3 http://identifiers.org/clinvar/153343 ^@ GRCh38/hg38 5q21.1(chr5:100520442-101589071)x3 http://identifiers.org/clinvar/153349 ^@ GRCh38/hg38 2q21.1(chr2:131271331-131497222)x0 http://identifiers.org/clinvar/153351 ^@ GRCh38/hg38 9p24.3(chr9:611189-705931)x1 http://identifiers.org/clinvar/153352 ^@ GRCh38/hg38 8q22.2(chr8:99394612-99622937)x1 http://identifiers.org/clinvar/153353 ^@ GRCh38/hg38 3p22.2(chr3:37309935-37523143)x1 http://identifiers.org/clinvar/153355 ^@ GRCh38/hg38 Yp11.2(chrY:9688291-10236356)x2 http://identifiers.org/clinvar/153357 ^@ GRCh38/hg38 7q21.2(chr7:91954655-91988744)x3 http://identifiers.org/clinvar/153359 ^@ GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1 http://identifiers.org/clinvar/153360 ^@ GRCh38/hg38 18q22.1(chr18:66594541-66837317)x1 http://identifiers.org/clinvar/153361 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 http://identifiers.org/clinvar/153362 ^@ GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 http://identifiers.org/clinvar/153364 ^@ GRCh38/hg38 15q13.1(chr15:28583021-29104758)x3 http://identifiers.org/clinvar/153365 ^@ GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3 http://identifiers.org/clinvar/153369 ^@ GRCh38/hg38 16p13.3(chr16:5868205-6103461)x1 http://identifiers.org/clinvar/153370 ^@ GRCh38/hg38 11q14.3-21(chr11:92350603-93362560)x3 http://identifiers.org/clinvar/153371 ^@ GRCh38/hg38 Xp22.31(chrX:8462878-8579625)x3 http://identifiers.org/clinvar/153373 ^@ GRCh38/hg38 16p13.3(chr16:5961957-6028180)x3 http://identifiers.org/clinvar/153374 ^@ GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4 http://identifiers.org/clinvar/153375 ^@ GRCh38/hg38 Xq21.1(chrX:77803550-77890125)x3 http://identifiers.org/clinvar/153379 ^@ GRCh38/hg38 3p26.2(chr3:3060140-3263298)x1 http://identifiers.org/clinvar/153380 ^@ GRCh38/hg38 6q21(chr6:112010915-112244218)x1 http://identifiers.org/clinvar/153381 ^@ GRCh38/hg38 6q24.1(chr6:138373915-138695098)x1 http://identifiers.org/clinvar/153385 ^@ GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 http://identifiers.org/clinvar/153386 ^@ GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1 http://identifiers.org/clinvar/153390 ^@ GRCh38/hg38 9p21.3(chr9:21435578-21645004)x1 http://identifiers.org/clinvar/153394 ^@ GRCh38/hg38 8p23.1(chr8:6356671-6733232)x1 http://identifiers.org/clinvar/153395 ^@ GRCh38/hg38 10q21.1(chr10:54935320-55905923)x1 http://identifiers.org/clinvar/153396 ^@ GRCh38/hg38 14q23.3(chr14:66345579-66848052)x1 http://identifiers.org/clinvar/153397 ^@ GRCh38/hg38 16p13.3(chr16:6700078-7072768)x3 http://identifiers.org/clinvar/153399 ^@ GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 http://identifiers.org/clinvar/153402 ^@ GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3 http://identifiers.org/clinvar/153403 ^@ GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 http://identifiers.org/clinvar/153404 ^@ GRCh38/hg38 Xq25(chrX:123828673-127958010)x3 http://identifiers.org/clinvar/153407 ^@ GRCh38/hg38 11q25(chr11:132623600-133127335)x3 http://identifiers.org/clinvar/153408 ^@ GRCh38/hg38 13q12.11(chr13:20222842-20530348)x1 http://identifiers.org/clinvar/153413 ^@ GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 http://identifiers.org/clinvar/153414 ^@ GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0 http://identifiers.org/clinvar/153415 ^@ GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 http://identifiers.org/clinvar/153416 ^@ GRCh38/hg38 3q29(chr3:196418334-198125115)x3 http://identifiers.org/clinvar/153417 ^@ GRCh38/hg38 Xq25(chrX:125763057-126312785)x1 http://identifiers.org/clinvar/153419 ^@ GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1 http://identifiers.org/clinvar/153423 ^@ GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1 http://identifiers.org/clinvar/153424 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146052881)x1 http://identifiers.org/clinvar/153426 ^@ GRCh38/hg38 15q11.2(chr15:25056998-25073086)x1 http://identifiers.org/clinvar/153427 ^@ GRCh38/hg38 Xq27.1(chrX:139774971-140365403)x3 http://identifiers.org/clinvar/153428 ^@ GRCh38/hg38 15q11.2(chr15:22790626-23102647)x1 http://identifiers.org/clinvar/153430 ^@ GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3 http://identifiers.org/clinvar/153431 ^@ GRCh38/hg38 3p26.3(chr3:2127695-2406764)x3 http://identifiers.org/clinvar/153432 ^@ GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3 http://identifiers.org/clinvar/153433 ^@ GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4 http://identifiers.org/clinvar/153434 ^@ GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 http://identifiers.org/clinvar/153435 ^@ GRCh38/hg38 Xq21.1(chrX:81041605-82096604)x3 http://identifiers.org/clinvar/153436 ^@ GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 http://identifiers.org/clinvar/153437 ^@ GRCh38/hg38 2q35(chr2:216266846-216782346)x3 http://identifiers.org/clinvar/153438 ^@ GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 http://identifiers.org/clinvar/153439 ^@ GRCh38/hg38 12p12.1(chr12:23460257-24693739)x1 http://identifiers.org/clinvar/153441 ^@ GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 http://identifiers.org/clinvar/153442 ^@ GRCh38/hg38 1p12(chr1:119772887-120006962)x3 http://identifiers.org/clinvar/153444 ^@ GRCh38/hg38 5q11.1(chr5:50134434-50758600)x3 http://identifiers.org/clinvar/153446 ^@ GRCh38/hg38 17q12(chr17:36180741-37971356)x3 http://identifiers.org/clinvar/153447 ^@ GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 http://identifiers.org/clinvar/153448 ^@ GRCh38/hg38 4q35.2(chr4:189328689-190036318)x3 http://identifiers.org/clinvar/153449 ^@ GRCh38/hg38 11p11.12(chr11:48946095-50560016)x1 http://identifiers.org/clinvar/153450 ^@ GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1 http://identifiers.org/clinvar/153452 ^@ GRCh38/hg38 Xp22.33(chrX:1879648-2616167)x3 http://identifiers.org/clinvar/153453 ^@ GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3 http://identifiers.org/clinvar/153454 ^@ GRCh38/hg38 Xp11.21-11.1(chrX:57623966-58327249)x2 http://identifiers.org/clinvar/153455 ^@ GRCh38/hg38 Xp22.33(chrX:638559-960930)x3 http://identifiers.org/clinvar/153456 ^@ GRCh38/hg38 2p25.3(chr2:330108-1021300)x3 http://identifiers.org/clinvar/153457 ^@ GRCh38/hg38 5p15.2(chr5:11674668-11872176)x1 http://identifiers.org/clinvar/153459 ^@ GRCh38/hg38 Xp22.31(chrX:7135829-7339916)x2 http://identifiers.org/clinvar/153462 ^@ GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 http://identifiers.org/clinvar/153466 ^@ GRCh38/hg38 12p12.2(chr12:20349065-20561597)x1 http://identifiers.org/clinvar/153467 ^@ GRCh38/hg38 14q13.1(chr14:34548652-34758172)x1 http://identifiers.org/clinvar/153468 ^@ GRCh38/hg38 4q22.1-22.2(chr4:92566333-92938641)x1 http://identifiers.org/clinvar/153470 ^@ GRCh38/hg38 9p21.3-21.2(chr9:25158722-25688114)x3 http://identifiers.org/clinvar/153475 ^@ GRCh38/hg38 2p25.3(chr2:12770-2748672)x1 http://identifiers.org/clinvar/153476 ^@ GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3 http://identifiers.org/clinvar/153477 ^@ GRCh38/hg38 8p22(chr8:16016852-16217064)x1 http://identifiers.org/clinvar/153481 ^@ GRCh38/hg38 2p21(chr2:43311324-43541112)x1 http://identifiers.org/clinvar/153482 ^@ GRCh38/hg38 9p21.1(chr9:28030643-28378184)x1 http://identifiers.org/clinvar/153485 ^@ GRCh38/hg38 10q26.3(chr10:131448228-131943718)x3 http://identifiers.org/clinvar/153486 ^@ GRCh38/hg38 7p11.2(chr7:57193415-57864134)x3 http://identifiers.org/clinvar/153487 ^@ GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3 http://identifiers.org/clinvar/153488 ^@ GRCh38/hg38 Xq28(chrX:154883744-155336409)x2 http://identifiers.org/clinvar/153490 ^@ GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3 http://identifiers.org/clinvar/153491 ^@ GRCh38/hg38 2q22.1-22.2(chr2:141491329-142523598)x3 http://identifiers.org/clinvar/153492 ^@ GRCh38/hg38 16p12.2(chr16:21919927-22430686)x1 http://identifiers.org/clinvar/153493 ^@ GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 http://identifiers.org/clinvar/153494 ^@ GRCh38/hg38 16q23.3(chr16:81949018-82802743)x3 http://identifiers.org/clinvar/153496 ^@ GRCh38/hg38 11p13(chr11:31720362-32325516)x3 http://identifiers.org/clinvar/153498 ^@ GRCh38/hg38 10q23.31(chr10:89808796-90276397)x1 http://identifiers.org/clinvar/153499 ^@ GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 http://identifiers.org/clinvar/153501 ^@ GRCh38/hg38 Xq12-13.1(chrX:68277324-68861722)x1 http://identifiers.org/clinvar/153502 ^@ GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 http://identifiers.org/clinvar/153505 ^@ GRCh38/hg38 Xp11.4(chrX:38627546-38769304)x2 http://identifiers.org/clinvar/153506 ^@ GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 http://identifiers.org/clinvar/153508 ^@ GRCh38/hg38 5q22.1(chr5:110469276-111738442)x1 http://identifiers.org/clinvar/153509 ^@ GRCh38/hg38 16p13.3(chr16:6249945-6720476)x1 http://identifiers.org/clinvar/153510 ^@ GRCh38/hg38 5p15.2(chr5:12793448-13036721)x1 http://identifiers.org/clinvar/153511 ^@ GRCh38/hg38 2p23.3(chr2:25819153-26272376)x1 http://identifiers.org/clinvar/153514 ^@ GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3 http://identifiers.org/clinvar/153515 ^@ GRCh38/hg38 5q12.2-12.3(chr5:63826033-64429460)x3 http://identifiers.org/clinvar/153518 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 http://identifiers.org/clinvar/153520 ^@ GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 http://identifiers.org/clinvar/153523 ^@ GRCh38/hg38 7p11.2(chr7:57193415-57863780)x3 http://identifiers.org/clinvar/153524 ^@ GRCh38/hg38 9q33.1(chr9:116747886-116862759)x1 http://identifiers.org/clinvar/153525 ^@ GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 http://identifiers.org/clinvar/153529 ^@ GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1 http://identifiers.org/clinvar/153530 ^@ GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 http://identifiers.org/clinvar/153532 ^@ GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3 http://identifiers.org/clinvar/153533 ^@ GRCh38/hg38 17p13.3(chr17:1297523-1360904)x3 http://identifiers.org/clinvar/153535 ^@ GRCh38/hg38 1q41(chr1:216244646-216387988)x3 http://identifiers.org/clinvar/153536 ^@ GRCh38/hg38 Xp11.3(chrX:46532588-46568441)x3 http://identifiers.org/clinvar/153537 ^@ GRCh38/hg38 6q13(chr6:70252257-70855775)x3 http://identifiers.org/clinvar/153538 ^@ GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3 http://identifiers.org/clinvar/153539 ^@ GRCh38/hg38 12q21.1-21.2(chr12:75019031-75720674)x3 http://identifiers.org/clinvar/153540 ^@ GRCh38/hg38 Xp11.3(chrX:46466633-46683440)x2 http://identifiers.org/clinvar/153542 ^@ GRCh38/hg38 1p36.31-36.23(chr1:7028200-7162042)x1 http://identifiers.org/clinvar/153543 ^@ GRCh38/hg38 10q26.2-26.3(chr10:127507503-129782976)x3 http://identifiers.org/clinvar/153544 ^@ GRCh38/hg38 17p11.2-11.1(chr17:22140003-22762465)x3 http://identifiers.org/clinvar/153547 ^@ GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1 http://identifiers.org/clinvar/153548 ^@ GRCh38/hg38 7q35(chr7:146770944-146819231)x1 http://identifiers.org/clinvar/153549 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 http://identifiers.org/clinvar/153551 ^@ GRCh38/hg38 7q31.1(chr7:111482147-111855998)x1 http://identifiers.org/clinvar/153553 ^@ GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 http://identifiers.org/clinvar/153554 ^@ GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 http://identifiers.org/clinvar/153557 ^@ GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3 http://identifiers.org/clinvar/153558 ^@ GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 http://identifiers.org/clinvar/153559 ^@ GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1 http://identifiers.org/clinvar/153560 ^@ GRCh38/hg38 22q13.33(chr22:50689468-50759410)x1 http://identifiers.org/clinvar/153561 ^@ GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 http://identifiers.org/clinvar/153563 ^@ GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 http://identifiers.org/clinvar/153565 ^@ GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1 http://identifiers.org/clinvar/153566 ^@ GRCh38/hg38 15q26.3(chr15:101621199-101888909)x1 http://identifiers.org/clinvar/153567 ^@ GRCh38/hg38 1p12(chr1:119989302-120090834)x1 http://identifiers.org/clinvar/153571 ^@ GRCh37/hg19 1q21.1(chr1:144887739-145829474)x1 http://identifiers.org/clinvar/153572 ^@ GRCh38/hg38 18q22.1(chr18:66417411-66663016)x1 http://identifiers.org/clinvar/153573 ^@ GRCh38/hg38 5q14.3(chr5:90157702-90471235)x1 http://identifiers.org/clinvar/153574 ^@ GRCh38/hg38 7q31.1(chr7:114538052-114546157)x1 http://identifiers.org/clinvar/153575 ^@ GRCh38/hg38 13q33.1(chr13:103255069-103783138)x1 http://identifiers.org/clinvar/153576 ^@ GRCh38/hg38 7p11.2(chr7:57120582-57966167)x1 http://identifiers.org/clinvar/153577 ^@ GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1 http://identifiers.org/clinvar/153578 ^@ GRCh38/hg38 5p13.1-12(chr5:41876210-42913877)x1 http://identifiers.org/clinvar/153582 ^@ GRCh38/hg38 9q21.13(chr9:74282586-75968293)x3 http://identifiers.org/clinvar/153583 ^@ GRCh38/hg38 13q31.3-32.1(chr13:93869283-94459255)x3 http://identifiers.org/clinvar/153586 ^@ GRCh38/hg38 Xp11.3(chrX:47458962-47567078)x2 http://identifiers.org/clinvar/153587 ^@ GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3 http://identifiers.org/clinvar/153589 ^@ GRCh38/hg38 8p23.3(chr8:555348-1166649)x3 http://identifiers.org/clinvar/153591 ^@ GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3 http://identifiers.org/clinvar/153592 ^@ GRCh38/hg38 15q26.3(chr15:98892707-99182753)x1 http://identifiers.org/clinvar/153593 ^@ GRCh38/hg38 6q26(chr6:162333573-162562135)x4 http://identifiers.org/clinvar/153594 ^@ GRCh38/hg38 Xq13.1(chrX:72677759-72711903)x3 http://identifiers.org/clinvar/153595 ^@ GRCh38/hg38 5q23.3(chr5:130803575-131187009)x1 http://identifiers.org/clinvar/153596 ^@ GRCh38/hg38 15q15.1(chr15:40581118-40720039)x1 http://identifiers.org/clinvar/153598 ^@ GRCh38/hg38 12q24.21(chr12:116038358-116218486)x1 http://identifiers.org/clinvar/153599 ^@ GRCh38/hg38 4q35.2(chr4:189102173-190036318)x1 http://identifiers.org/clinvar/153600 ^@ GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 http://identifiers.org/clinvar/153601 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1 http://identifiers.org/clinvar/153602 ^@ GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 http://identifiers.org/clinvar/153604 ^@ GRCh38/hg38 1p32.1(chr1:59383801-59586381)x1 http://identifiers.org/clinvar/153608 ^@ GRCh38/hg38 11q14.3(chr11:89425778-90689442)x1 http://identifiers.org/clinvar/153610 ^@ GRCh38/hg38 3q28(chr3:191322384-191384496)x3 http://identifiers.org/clinvar/153611 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 http://identifiers.org/clinvar/153612 ^@ GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3 http://identifiers.org/clinvar/153616 ^@ GRCh38/hg38 19p12-11(chr19:23540844-24322835)x3 http://identifiers.org/clinvar/153617 ^@ GRCh38/hg38 8p23.3(chr8:491797-1433054)x3 http://identifiers.org/clinvar/153619 ^@ GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 http://identifiers.org/clinvar/153621 ^@ GRCh38/hg38 11q13.4(chr11:70575193-70893208)x1 http://identifiers.org/clinvar/153622 ^@ GRCh38/hg38 16p13.11(chr16:15388063-16232220)x3 http://identifiers.org/clinvar/153625 ^@ GRCh38/hg38 2q22.3-23.1(chr2:147732899-148156266)x1 http://identifiers.org/clinvar/153628 ^@ GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1 http://identifiers.org/clinvar/153629 ^@ GRCh38/hg38 19q12(chr19:28673355-29139775)x1 http://identifiers.org/clinvar/153630 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 http://identifiers.org/clinvar/153631 ^@ GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 http://identifiers.org/clinvar/153632 ^@ GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1 http://identifiers.org/clinvar/153633 ^@ GRCh38/hg38 4p15.31(chr4:19186844-20838471)x1 http://identifiers.org/clinvar/153634 ^@ GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 http://identifiers.org/clinvar/153635 ^@ GRCh38/hg38 Xp22.31(chrX:7847150-8460867)x0 http://identifiers.org/clinvar/153638 ^@ GRCh38/hg38 5q15(chr5:93719352-93931571)x1 http://identifiers.org/clinvar/153639 ^@ GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1 http://identifiers.org/clinvar/153641 ^@ GRCh38/hg38 9p24.3(chr9:409397-560630)x1 http://identifiers.org/clinvar/153642 ^@ GRCh38/hg38 16p13.13(chr16:10560475-10775716)x1 http://identifiers.org/clinvar/153643 ^@ GRCh38/hg38 12q14.1(chr12:61621454-61907677)x1 http://identifiers.org/clinvar/153644 ^@ GRCh38/hg38 8p22(chr8:17714835-18141353)x1 http://identifiers.org/clinvar/153645 ^@ GRCh38/hg38 4q35.2(chr4:187557765-188173833)x1 http://identifiers.org/clinvar/153646 ^@ GRCh38/hg38 16p12.2(chr16:21750083-22420036)x1 http://identifiers.org/clinvar/153649 ^@ GRCh38/hg38 1q21.2(chr1:148259057-148492647)x1 http://identifiers.org/clinvar/153650 ^@ GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3 http://identifiers.org/clinvar/153651 ^@ GRCh37/hg19 1q21.1(chr1:144823069-145377277)x3 http://identifiers.org/clinvar/153652 ^@ GRCh38/hg38 2p25.1(chr2:11270488-11924312)x3 http://identifiers.org/clinvar/153653 ^@ GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 http://identifiers.org/clinvar/153654 ^@ GRCh38/hg38 Xq27.1(chrX:140020001-140214597)x2 http://identifiers.org/clinvar/153656 ^@ GRCh38/hg38 Xq27.1(chrX:140214704-140411635)x3 http://identifiers.org/clinvar/153657 ^@ GRCh38/hg38 Xq27.1(chrX:140430903-140617625)x2 http://identifiers.org/clinvar/153661 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2621940-2836665)x1 http://identifiers.org/clinvar/153662 ^@ GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1 http://identifiers.org/clinvar/153663 ^@ GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 http://identifiers.org/clinvar/153665 ^@ GRCh38/hg38 7q35(chr7:146687000-147056525)x1 http://identifiers.org/clinvar/153666 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 http://identifiers.org/clinvar/153667 ^@ GRCh38/hg38 9q31.1(chr9:102880737-103104119)x1 http://identifiers.org/clinvar/153668 ^@ GRCh38/hg38 3p26.3(chr3:1275175-2359367)x3 http://identifiers.org/clinvar/153671 ^@ GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 http://identifiers.org/clinvar/153672 ^@ GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1 http://identifiers.org/clinvar/153673 ^@ GRCh38/hg38 Yq11.222(chrY:17766036-18139771)x0 http://identifiers.org/clinvar/153676 ^@ GRCh38/hg38 2q21.1(chr2:130146886-130388116)x1 http://identifiers.org/clinvar/153678 ^@ GRCh38/hg38 3q23(chr3:140622457-140892316)x1 http://identifiers.org/clinvar/153679 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/153680 ^@ GRCh38/hg38 10q21.3(chr10:66535354-66758372)x1 http://identifiers.org/clinvar/153681 ^@ GRCh38/hg38 14q12(chr14:31404152-31654707)x1 http://identifiers.org/clinvar/153682 ^@ GRCh38/hg38 2q32.1(chr2:185571260-185998642)x1 http://identifiers.org/clinvar/153683 ^@ GRCh38/hg38 1p33(chr1:48895958-49202245)x1 http://identifiers.org/clinvar/153684 ^@ GRCh38/hg38 6p24.3(chr6:8178309-8910184)x1 http://identifiers.org/clinvar/153685 ^@ GRCh38/hg38 Xq28(chrX:149176559-149746198)x2 http://identifiers.org/clinvar/153687 ^@ GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 http://identifiers.org/clinvar/153688 ^@ GRCh38/hg38 6q27(chr6:170187559-170610394)x3 http://identifiers.org/clinvar/153690 ^@ GRCh38/hg38 18p11.32(chr18:1332066-1852553)x3 http://identifiers.org/clinvar/153691 ^@ GRCh38/hg38 18q21.33-22.1(chr18:63819028-66637566)x1 http://identifiers.org/clinvar/153694 ^@ GRCh38/hg38 1q44(chr1:246147446-246352642)x1 http://identifiers.org/clinvar/153695 ^@ GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1 http://identifiers.org/clinvar/153698 ^@ GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3 http://identifiers.org/clinvar/153699 ^@ GRCh38/hg38 13q31.1-31.3(chr13:84052824-91838339)x3 http://identifiers.org/clinvar/153702 ^@ GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1 http://identifiers.org/clinvar/153706 ^@ GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3 http://identifiers.org/clinvar/153708 ^@ GRCh38/hg38 12p13.31(chr12:5686953-6111240)x1 http://identifiers.org/clinvar/153711 ^@ GRCh38/hg38 10p13(chr10:16711539-17263602)x3 http://identifiers.org/clinvar/153712 ^@ GRCh38/hg38 11q23.3(chr11:118503581-118554704)x3 http://identifiers.org/clinvar/153713 ^@ GRCh38/hg38 Xp22.2(chrX:15754290-16542056)x3 http://identifiers.org/clinvar/153714 ^@ GRCh38/hg38 2p16.3(chr2:48543380-49241978)x3 http://identifiers.org/clinvar/153715 ^@ GRCh38/hg38 2q21.1(chr2:130059752-130427257)x1 http://identifiers.org/clinvar/153716 ^@ GRCh38/hg38 13q33.1(chr13:103272632-103894019)x3 http://identifiers.org/clinvar/153717 ^@ GRCh38/hg38 17q12(chr17:36566143-38237593)x1 http://identifiers.org/clinvar/153718 ^@ GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 http://identifiers.org/clinvar/153719 ^@ GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3 http://identifiers.org/clinvar/153720 ^@ GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 http://identifiers.org/clinvar/153721 ^@ GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 http://identifiers.org/clinvar/153722 ^@ GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 http://identifiers.org/clinvar/153723 ^@ GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 http://identifiers.org/clinvar/153724 ^@ GRCh38/hg38 2q31.2(chr2:177833189-178016682)x1 http://identifiers.org/clinvar/153725 ^@ GRCh38/hg38 19p12(chr19:20637987-21976216)x3 http://identifiers.org/clinvar/153726 ^@ GRCh38/hg38 20p12.1(chr20:14667575-15243121)x1 http://identifiers.org/clinvar/153727 ^@ GRCh38/hg38 8p21.2(chr8:24017764-24642890)x3 http://identifiers.org/clinvar/153729 ^@ GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3 http://identifiers.org/clinvar/153730 ^@ GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 http://identifiers.org/clinvar/153731 ^@ GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 http://identifiers.org/clinvar/153733 ^@ GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3 http://identifiers.org/clinvar/153734 ^@ GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 http://identifiers.org/clinvar/153736 ^@ GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1 http://identifiers.org/clinvar/153737 ^@ GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 http://identifiers.org/clinvar/153740 ^@ GRCh38/hg38 4q31.22-31.23(chr4:147172571-147792924)x3 http://identifiers.org/clinvar/153741 ^@ GRCh38/hg38 4q26(chr4:117786007-118526099)x3 http://identifiers.org/clinvar/153742 ^@ GRCh38/hg38 7q21.11(chr7:82173261-82873216)x3 http://identifiers.org/clinvar/153743 ^@ GRCh38/hg38 6q15(chr6:89007799-89705596)x3 http://identifiers.org/clinvar/153744 ^@ GRCh38/hg38 12p11.1(chr12:33387634-33973962)x1 http://identifiers.org/clinvar/153745 ^@ GRCh38/hg38 13q21.33(chr13:70390695-71315735)x3 http://identifiers.org/clinvar/153746 ^@ GRCh38/hg38 17q12(chr17:36566143-38151723)x1 http://identifiers.org/clinvar/153747 ^@ GRCh38/hg38 18p11.32(chr18:1076081-1778651)x3 http://identifiers.org/clinvar/153748 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/153749 ^@ GRCh38/hg38 6q15(chr6:89339079-92096042)x3 http://identifiers.org/clinvar/153750 ^@ GRCh38/hg38 16q23.1(chr16:78351090-78596922)x1 http://identifiers.org/clinvar/153751 ^@ GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 http://identifiers.org/clinvar/153752 ^@ GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3 http://identifiers.org/clinvar/153753 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 http://identifiers.org/clinvar/153755 ^@ GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 http://identifiers.org/clinvar/153756 ^@ GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 http://identifiers.org/clinvar/153758 ^@ GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 http://identifiers.org/clinvar/153760 ^@ GRCh38/hg38 13q12.13(chr13:25710028-25853867)x1 http://identifiers.org/clinvar/153761 ^@ GRCh38/hg38 14q11.2(chr14:23395406-23414169)x3 http://identifiers.org/clinvar/153765 ^@ GRCh38/hg38 7q21.13(chr7:89886335-90747262)x3 http://identifiers.org/clinvar/153766 ^@ GRCh38/hg38 Xq28(chrX:149467866-149746113)x2 http://identifiers.org/clinvar/153767 ^@ GRCh38/hg38 Xq28(chrX:149489072-149650223)x3 http://identifiers.org/clinvar/153768 ^@ GRCh38/hg38 12p11.1(chr12:33387634-33973022)x1 http://identifiers.org/clinvar/153770 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1 http://identifiers.org/clinvar/153771 ^@ GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 http://identifiers.org/clinvar/153772 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 http://identifiers.org/clinvar/153776 ^@ GRCh38/hg38 7p14.3(chr7:33733356-34433006)x1 http://identifiers.org/clinvar/153783 ^@ GRCh38/hg38 Xq27.3(chrX:143385453-144104512)x3 http://identifiers.org/clinvar/153784 ^@ GRCh38/hg38 3q28(chr3:191235578-191700274)x1 http://identifiers.org/clinvar/153787 ^@ GRCh38/hg38 1p36.13(chr1:17700973-18335637)x3 http://identifiers.org/clinvar/153788 ^@ GRCh38/hg38 3p13(chr3:71102982-71161147)x3 http://identifiers.org/clinvar/153789 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 http://identifiers.org/clinvar/153790 ^@ GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 http://identifiers.org/clinvar/153791 ^@ GRCh38/hg38 9p23(chr9:12449564-12739193)x1 http://identifiers.org/clinvar/153793 ^@ GRCh38/hg38 19p12(chr19:22159102-23021493)x3 http://identifiers.org/clinvar/153794 ^@ GRCh38/hg38 1p12(chr1:119999434-120090834)x3 http://identifiers.org/clinvar/153795 ^@ GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6 http://identifiers.org/clinvar/153797 ^@ GRCh38/hg38 Yq11.221-12(chrY:12881571-26653790)x1 http://identifiers.org/clinvar/153800 ^@ GRCh38/hg38 7p21.3(chr7:12670023-13359025)x3 http://identifiers.org/clinvar/153805 ^@ GRCh38/hg38 Xq21.1(chrX:80679741-81059969)x3 http://identifiers.org/clinvar/153806 ^@ GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 http://identifiers.org/clinvar/153808 ^@ GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3 http://identifiers.org/clinvar/153810 ^@ GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3 http://identifiers.org/clinvar/153811 ^@ GRCh38/hg38 6p25.3-25.2(chr6:1943429-2507158)x3 http://identifiers.org/clinvar/153812 ^@ GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1 http://identifiers.org/clinvar/153813 ^@ GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3 http://identifiers.org/clinvar/153814 ^@ GRCh38/hg38 2q23.1(chr2:147988713-148069129)x1 http://identifiers.org/clinvar/153815 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 http://identifiers.org/clinvar/153816 ^@ GRCh38/hg38 1q21.1(chr1:143965076-144913332)x3 http://identifiers.org/clinvar/153817 ^@ GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 http://identifiers.org/clinvar/153818 ^@ GRCh38/hg38 17q12(chr17:36566143-38193939)x3 http://identifiers.org/clinvar/153820 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 http://identifiers.org/clinvar/153821 ^@ GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 http://identifiers.org/clinvar/153822 ^@ GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 http://identifiers.org/clinvar/153825 ^@ GRCh38/hg38 16p12.2(chr16:21790568-22420036)x1 http://identifiers.org/clinvar/153828 ^@ GRCh38/hg38 3p26.2(chr3:2875937-2920705)x1 http://identifiers.org/clinvar/153829 ^@ GRCh38/hg38 21q21.1(chr21:20248597-20759663)x1 http://identifiers.org/clinvar/153831 ^@ GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3 http://identifiers.org/clinvar/153832 ^@ GRCh38/hg38 4q22.1(chr4:89972907-90221770)x1 http://identifiers.org/clinvar/153833 ^@ GRCh38/hg38 8p22(chr8:14076023-14538216)x1 http://identifiers.org/clinvar/153837 ^@ GRCh38/hg38 13q21.33(chr13:70005620-71038635)x3 http://identifiers.org/clinvar/153838 ^@ GRCh38/hg38 9p24.3(chr9:608682-705931)x1 http://identifiers.org/clinvar/153841 ^@ GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3 http://identifiers.org/clinvar/153842 ^@ GRCh38/hg38 1q44(chr1:245963305-246590116)x3 http://identifiers.org/clinvar/153843 ^@ GRCh38/hg38 Xp22.31(chrX:8167603-8602694)x3 http://identifiers.org/clinvar/153846 ^@ GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 http://identifiers.org/clinvar/153850 ^@ GRCh38/hg38 Xp21.1(chrX:31826330-31870887)x1 http://identifiers.org/clinvar/153852 ^@ GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 http://identifiers.org/clinvar/153855 ^@ GRCh38/hg38 17q12(chr17:36566143-37890225)x1 http://identifiers.org/clinvar/153857 ^@ GRCh38/hg38 12q21.32(chr12:86403298-87522344)x3 http://identifiers.org/clinvar/153858 ^@ GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3 http://identifiers.org/clinvar/153860 ^@ GRCh38/hg38 10p15.3(chr10:200071-415409)x3 http://identifiers.org/clinvar/153864 ^@ GRCh38/hg38 9p24.3(chr9:396379-1198422)x3 http://identifiers.org/clinvar/153867 ^@ GRCh38/hg38 7p22.2(chr7:3387420-3667729)x1 http://identifiers.org/clinvar/153873 ^@ GRCh38/hg38 15q13.3(chr15:31799392-32144318)x3 http://identifiers.org/clinvar/153877 ^@ GRCh38/hg38 Xq28(chrX:154892324-155339449)x1 http://identifiers.org/clinvar/153878 ^@ GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1 http://identifiers.org/clinvar/153880 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35012310-35669075)x3 http://identifiers.org/clinvar/153881 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 http://identifiers.org/clinvar/153882 ^@ GRCh38/hg38 18q23(chr18:77261157-79635779)x3 http://identifiers.org/clinvar/153883 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3 http://identifiers.org/clinvar/153884 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 http://identifiers.org/clinvar/153885 ^@ GRCh38/hg38 17q12(chr17:36566143-38160105)x1 http://identifiers.org/clinvar/153886 ^@ GRCh38/hg38 15q13.3(chr15:31711334-32154629)x1 http://identifiers.org/clinvar/153888 ^@ GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3 http://identifiers.org/clinvar/153893 ^@ GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 http://identifiers.org/clinvar/153894 ^@ GRCh38/hg38 12p12.3(chr12:16281353-16499227)x1 http://identifiers.org/clinvar/153896 ^@ GRCh38/hg38 12p12.3(chr12:15912444-16361256)x1 http://identifiers.org/clinvar/153897 ^@ GRCh38/hg38 15q11.2(chr15:22590191-23102647)x1 http://identifiers.org/clinvar/153898 ^@ GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1 http://identifiers.org/clinvar/153899 ^@ GRCh38/hg38 Xq25(chrX:124349141-124910482)x3 http://identifiers.org/clinvar/153900 ^@ GRCh38/hg38 22q11.21(chr22:20363364-21111373)x1 http://identifiers.org/clinvar/153901 ^@ GRCh38/hg38 19p12(chr19:20335167-20634322)x1 http://identifiers.org/clinvar/153905 ^@ GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1 http://identifiers.org/clinvar/153906 ^@ GRCh38/hg38 3q11.2(chr3:97180221-97779365)x1 http://identifiers.org/clinvar/153908 ^@ GRCh38/hg38 7q35(chr7:143728625-144176869)x1 http://identifiers.org/clinvar/153909 ^@ GRCh38/hg38 8q21.3(chr8:87104001-87352530)x1 http://identifiers.org/clinvar/153910 ^@ GRCh38/hg38 Xp21.2(chrX:31194383-31200627)x0 http://identifiers.org/clinvar/153912 ^@ GRCh38/hg38 10p11.21(chr10:34460387-35130934)x3 http://identifiers.org/clinvar/153913 ^@ GRCh38/hg38 11q22.1(chr11:100019656-100758582)x3 http://identifiers.org/clinvar/153914 ^@ GRCh38/hg38 15q11.2(chr15:22582277-23102647)x1 http://identifiers.org/clinvar/153915 ^@ GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3 http://identifiers.org/clinvar/153916 ^@ GRCh38/hg38 17q12(chr17:37699098-37884738)x3 http://identifiers.org/clinvar/153917 ^@ GRCh38/hg38 22q12.1(chr22:28669349-28727009)x3 http://identifiers.org/clinvar/153923 ^@ GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3 http://identifiers.org/clinvar/153924 ^@ GRCh38/hg38 6q12(chr6:64977400-65457865)x1 http://identifiers.org/clinvar/153925 ^@ GRCh38/hg38 8q22.3-23.1(chr8:105081855-105886355)x3 http://identifiers.org/clinvar/153930 ^@ GRCh38/hg38 10q21.3(chr10:66621526-66845254)x1 http://identifiers.org/clinvar/153932 ^@ GRCh38/hg38 Xp22.33(chrX:1629687-2467509)x3 http://identifiers.org/clinvar/153933 ^@ GRCh38/hg38 1p31.1(chr1:77256993-77510214)x1 http://identifiers.org/clinvar/153934 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 http://identifiers.org/clinvar/153936 ^@ GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3 http://identifiers.org/clinvar/153937 ^@ GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 http://identifiers.org/clinvar/153938 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3 http://identifiers.org/clinvar/153939 ^@ GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3 http://identifiers.org/clinvar/153940 ^@ GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 http://identifiers.org/clinvar/153941 ^@ GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 http://identifiers.org/clinvar/153947 ^@ GRCh38/hg38 16q23.1(chr16:78185441-78554635)x1 http://identifiers.org/clinvar/153948 ^@ GRCh38/hg38 1p22.2(chr1:89193991-89480531)x1 http://identifiers.org/clinvar/153949 ^@ GRCh38/hg38 22q12.3(chr22:33460734-33815605)x1 http://identifiers.org/clinvar/153950 ^@ GRCh38/hg38 4q35.2(chr4:188210994-188584766)x1 http://identifiers.org/clinvar/153952 ^@ GRCh38/hg38 11q22.3(chr11:103078271-103830364)x3 http://identifiers.org/clinvar/153953 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3 http://identifiers.org/clinvar/153954 ^@ GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3 http://identifiers.org/clinvar/153955 ^@ GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3 http://identifiers.org/clinvar/153957 ^@ GRCh38/hg38 Xp22.33(chrX:1615504-2464503)x3 http://identifiers.org/clinvar/153960 ^@ GRCh38/hg38 Xp22.33(chrX:429415-653953)x3 http://identifiers.org/clinvar/153962 ^@ GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 http://identifiers.org/clinvar/153963 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 http://identifiers.org/clinvar/153966 ^@ GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 http://identifiers.org/clinvar/153968 ^@ GRCh38/hg38 4p16.1(chr4:9846063-10651440)x3 http://identifiers.org/clinvar/153969 ^@ GRCh38/hg38 1p32.1(chr1:59289598-59517821)x1 http://identifiers.org/clinvar/153971 ^@ GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 http://identifiers.org/clinvar/153972 ^@ GRCh38/hg38 3q29(chr3:195976744-197629463)x1 http://identifiers.org/clinvar/153973 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1 http://identifiers.org/clinvar/153974 ^@ GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 http://identifiers.org/clinvar/153975 ^@ GRCh38/hg38 9p24.3(chr9:608682-705168)x1 http://identifiers.org/clinvar/153978 ^@ GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1 http://identifiers.org/clinvar/153979 ^@ GRCh38/hg38 15q11.2(chr15:22595661-23102647)x1 http://identifiers.org/clinvar/153981 ^@ GRCh38/hg38 6p11.2-q11.1(chr6:57447932-60420111)x1 http://identifiers.org/clinvar/153982 ^@ GRCh38/hg38 12p11.1(chr12:33276356-33734564)x1 http://identifiers.org/clinvar/153984 ^@ GRCh38/hg38 15q14(chr15:36264417-38045964)x3 http://identifiers.org/clinvar/153985 ^@ GRCh38/hg38 1p36.32(chr1:2999618-3203165)x3 http://identifiers.org/clinvar/153986 ^@ GRCh38/hg38 12q21.31(chr12:85578345-85815687)x1 http://identifiers.org/clinvar/153987 ^@ GRCh38/hg38 1q44(chr1:245299178-246310558)x3 http://identifiers.org/clinvar/153988 ^@ GRCh38/hg38 5p13.2(chr5:37165366-37721778)x3 http://identifiers.org/clinvar/153989 ^@ GRCh38/hg38 8p12(chr8:30958352-32189009)x3 http://identifiers.org/clinvar/153990 ^@ GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 http://identifiers.org/clinvar/153993 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 http://identifiers.org/clinvar/153994 ^@ GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1 http://identifiers.org/clinvar/153996 ^@ GRCh38/hg38 Xp11.3(chrX:46234280-46867463)x3 http://identifiers.org/clinvar/153997 ^@ GRCh38/hg38 3p14.3(chr3:54728779-54780521)x1 http://identifiers.org/clinvar/153998 ^@ GRCh38/hg38 22q11.1(chr22:16408173-17154559)x4 http://identifiers.org/clinvar/153999 ^@ GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1 http://identifiers.org/clinvar/154000 ^@ GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 http://identifiers.org/clinvar/154001 ^@ GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1 http://identifiers.org/clinvar/154003 ^@ GRCh38/hg38 1p36.33(chr1:914086-1538895)x1 http://identifiers.org/clinvar/154004 ^@ GRCh38/hg38 22q11.21(chr22:20362587-21111370)x3 http://identifiers.org/clinvar/154005 ^@ GRCh38/hg38 17q12(chr17:36566143-37890225)x1 http://identifiers.org/clinvar/154006 ^@ GRCh38/hg38 17q21.31(chr17:45571125-46137522)x1 http://identifiers.org/clinvar/154010 ^@ GRCh38/hg38 2p24.1(chr2:19667198-20009783)x3 http://identifiers.org/clinvar/154011 ^@ GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 http://identifiers.org/clinvar/154013 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3 http://identifiers.org/clinvar/154016 ^@ GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 http://identifiers.org/clinvar/154017 ^@ GRCh38/hg38 1p36.31(chr1:5412100-5776809)x1 http://identifiers.org/clinvar/154018 ^@ GRCh38/hg38 Xq28(chrX:152970453-153311123)x0 http://identifiers.org/clinvar/154019 ^@ GRCh38/hg38 6p22.3(chr6:15291660-15490578)x1 http://identifiers.org/clinvar/154021 ^@ GRCh38/hg38 12p12.3(chr12:17543965-18266361)x3 http://identifiers.org/clinvar/154022 ^@ GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 http://identifiers.org/clinvar/154023 ^@ GRCh38/hg38 12p11.23-11.22(chr12:27128969-27636702)x3 http://identifiers.org/clinvar/154024 ^@ GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3 http://identifiers.org/clinvar/154025 ^@ GRCh37/hg19 6p11.2(chr6:57324818-57996509)x3 http://identifiers.org/clinvar/154026 ^@ GRCh38/hg38 8p22-21.3(chr8:18852451-19355561)x3 http://identifiers.org/clinvar/154027 ^@ GRCh38/hg38 11q22.3(chr11:103147825-103996865)x4 http://identifiers.org/clinvar/154029 ^@ GRCh38/hg38 1q21.3(chr1:152267710-152436835)x1 http://identifiers.org/clinvar/154030 ^@ GRCh38/hg38 Yq11.221-12(chrY:12702930-26653790)x1 http://identifiers.org/clinvar/154031 ^@ GRCh38/hg38 2p21(chr2:42347475-42611298)x1 http://identifiers.org/clinvar/154032 ^@ GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1 http://identifiers.org/clinvar/154033 ^@ GRCh38/hg38 7q33(chr7:133279171-133684114)x1 http://identifiers.org/clinvar/154034 ^@ GRCh38/hg38 5q13.2(chr5:71358232-71562995)x1 http://identifiers.org/clinvar/154035 ^@ GRCh38/hg38 10q23.31(chr10:90327423-90845362)x3 http://identifiers.org/clinvar/154036 ^@ GRCh38/hg38 15q13.3(chr15:31796097-32144318)x3 http://identifiers.org/clinvar/154037 ^@ GRCh38/hg38 18p11.31(chr18:4235178-5151611)x3 http://identifiers.org/clinvar/154038 ^@ GRCh38/hg38 3p26.3(chr3:144528-713567)x3 http://identifiers.org/clinvar/154040 ^@ GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3 http://identifiers.org/clinvar/154041 ^@ GRCh38/hg38 1q21.1(chr1:145642988-146047980)x1 http://identifiers.org/clinvar/154042 ^@ GRCh38/hg38 4q13.3-21.1(chr4:75121312-75410938)x1 http://identifiers.org/clinvar/154044 ^@ GRCh38/hg38 15q26.1(chr15:89738724-89788051)x1 http://identifiers.org/clinvar/154045 ^@ GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 http://identifiers.org/clinvar/154047 ^@ GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1 http://identifiers.org/clinvar/154049 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 http://identifiers.org/clinvar/154051 ^@ GRCh38/hg38 2q23.1(chr2:148052791-148429544)x3 http://identifiers.org/clinvar/154055 ^@ GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3 http://identifiers.org/clinvar/154056 ^@ GRCh38/hg38 2q21.1-21.2(chr2:131291207-132406186)x3 http://identifiers.org/clinvar/154061 ^@ GRCh38/hg38 12q24.32(chr12:125862809-127788730)x3 http://identifiers.org/clinvar/154063 ^@ GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1 http://identifiers.org/clinvar/154064 ^@ GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1 http://identifiers.org/clinvar/154065 ^@ GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1 http://identifiers.org/clinvar/154067 ^@ GRCh38/hg38 4p16.2-16.1(chr4:5802938-6159712)x3 http://identifiers.org/clinvar/154068 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 http://identifiers.org/clinvar/154069 ^@ GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1 http://identifiers.org/clinvar/154070 ^@ GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 http://identifiers.org/clinvar/154071 ^@ GRCh38/hg38 18p11.32(chr18:136226-948277)x1 http://identifiers.org/clinvar/154072 ^@ GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1 http://identifiers.org/clinvar/154073 ^@ GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 http://identifiers.org/clinvar/154074 ^@ GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 http://identifiers.org/clinvar/154075 ^@ GRCh38/hg38 Xp22.31(chrX:6537110-8167603)x1 http://identifiers.org/clinvar/154076 ^@ GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1 http://identifiers.org/clinvar/154080 ^@ GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1 http://identifiers.org/clinvar/154081 ^@ GRCh38/hg38 9q34.3(chr9:134543703-134725867)x1 http://identifiers.org/clinvar/154082 ^@ GRCh38/hg38 Xq21.2(chrX:85881568-86228805)x3 http://identifiers.org/clinvar/154083 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 http://identifiers.org/clinvar/154084 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 http://identifiers.org/clinvar/154088 ^@ GRCh38/hg38 10p15.3(chr10:54086-1600803)x1 http://identifiers.org/clinvar/154089 ^@ GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 http://identifiers.org/clinvar/154090 ^@ GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3 http://identifiers.org/clinvar/154095 ^@ GRCh38/hg38 7q36.1-36.2(chr7:152438976-152964146)x3 http://identifiers.org/clinvar/154097 ^@ GRCh38/hg38 16p11.2-11.1(chr16:34963120-36048843)x1 http://identifiers.org/clinvar/154098 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48796350-49805128)x3 http://identifiers.org/clinvar/154099 ^@ GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 http://identifiers.org/clinvar/154104 ^@ GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 http://identifiers.org/clinvar/154105 ^@ GRCh38/hg38 10p15.1(chr10:4892139-5164086)x1 http://identifiers.org/clinvar/154106 ^@ GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 http://identifiers.org/clinvar/154108 ^@ GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3 http://identifiers.org/clinvar/154109 ^@ GRCh38/hg38 Xp22.33(chrX:1063677-1838017)x3 http://identifiers.org/clinvar/154110 ^@ GRCh38/hg38 17q21.31(chr17:43062458-43141043)x1 http://identifiers.org/clinvar/154111 ^@ GRCh38/hg38 2p25.3(chr2:1413693-1519167)x4 http://identifiers.org/clinvar/154112 ^@ GRCh38/hg38 16p13.3(chr16:5988715-6029854)x3 http://identifiers.org/clinvar/154115 ^@ GRCh38/hg38 1q23.3(chr1:161329273-161356785)x3 http://identifiers.org/clinvar/154117 ^@ GRCh38/hg38 3p13(chr3:71124507-71892267)x3 http://identifiers.org/clinvar/154118 ^@ GRCh38/hg38 5p12-11(chr5:45647519-46389237)x3 http://identifiers.org/clinvar/154119 ^@ GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 http://identifiers.org/clinvar/154120 ^@ GRCh38/hg38 6q14.1(chr6:75787242-76453312)x3 http://identifiers.org/clinvar/154121 ^@ GRCh38/hg38 7q36.3(chr7:158067181-158592892)x3 http://identifiers.org/clinvar/154123 ^@ GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1 http://identifiers.org/clinvar/154124 ^@ GRCh38/hg38 3q11.1(chr3:93800621-93955268)x3 http://identifiers.org/clinvar/154126 ^@ GRCh38/hg38 14q21.1(chr14:38647534-38856880)x1 http://identifiers.org/clinvar/154127 ^@ GRCh38/hg38 16q12.1(chr16:47224376-47628637)x1 http://identifiers.org/clinvar/154128 ^@ GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1 http://identifiers.org/clinvar/154129 ^@ GRCh38/hg38 10q11.23-21.1(chr10:50453699-51121757)x3 http://identifiers.org/clinvar/154132 ^@ GRCh38/hg38 17p13.3(chr17:2403263-2960737)x3 http://identifiers.org/clinvar/154135 ^@ GRCh38/hg38 11p15.2(chr11:14684722-15210307)x3 http://identifiers.org/clinvar/154137 ^@ GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3 http://identifiers.org/clinvar/154139 ^@ GRCh38/hg38 7p11.2(chr7:57193415-57859810)x3 http://identifiers.org/clinvar/154140 ^@ GRCh38/hg38 17p12(chr17:14179737-15571773)x1 http://identifiers.org/clinvar/154142 ^@ GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1 http://identifiers.org/clinvar/154145 ^@ GRCh38/hg38 14q31.1(chr14:78968226-79147847)x1 http://identifiers.org/clinvar/154146 ^@ GRCh38/hg38 16q24.3(chr16:89343221-89494861)x1 http://identifiers.org/clinvar/154147 ^@ GRCh38/hg38 2p12(chr2:79867591-80145043)x1 http://identifiers.org/clinvar/154152 ^@ GRCh38/hg38 3p12.3(chr3:78677264-79126033)x1 http://identifiers.org/clinvar/154153 ^@ GRCh38/hg38 8p22(chr8:16765503-17140219)x1 http://identifiers.org/clinvar/154154 ^@ GRCh38/hg38 Xp21.1(chrX:37022066-37496001)x1 http://identifiers.org/clinvar/154155 ^@ GRCh38/hg38 Xq21.31(chrX:88735551-89004034)x1 http://identifiers.org/clinvar/154156 ^@ GRCh38/hg38 11q23.3(chr11:120453168-121182251)x3 http://identifiers.org/clinvar/154157 ^@ GRCh38/hg38 11q24.3-25(chr11:130763378-131409419)x3 http://identifiers.org/clinvar/154158 ^@ GRCh38/hg38 12q23.1(chr12:97452763-98257706)x3 http://identifiers.org/clinvar/154159 ^@ GRCh38/hg38 15q13.3(chr15:31711334-32147032)x3 http://identifiers.org/clinvar/154160 ^@ GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1 http://identifiers.org/clinvar/154161 ^@ GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3 http://identifiers.org/clinvar/154162 ^@ GRCh38/hg38 6q16.3(chr6:104094035-104885245)x3 http://identifiers.org/clinvar/154166 ^@ GRCh38/hg38 Xp11.4(chrX:38620826-38775361)x3 http://identifiers.org/clinvar/154174 ^@ GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3 http://identifiers.org/clinvar/154175 ^@ GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1 http://identifiers.org/clinvar/154176 ^@ GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 http://identifiers.org/clinvar/154177 ^@ GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 http://identifiers.org/clinvar/154178 ^@ GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 http://identifiers.org/clinvar/154180 ^@ GRCh38/hg38 1q31.1-31.2(chr1:190590021-190944564)x1 http://identifiers.org/clinvar/154181 ^@ GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 http://identifiers.org/clinvar/154183 ^@ GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1 http://identifiers.org/clinvar/154186 ^@ GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 http://identifiers.org/clinvar/154187 ^@ GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 http://identifiers.org/clinvar/154188 ^@ GRCh38/hg38 18p11.31(chr18:5958575-6596682)x3 http://identifiers.org/clinvar/154189 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28757591-30094195)x1 http://identifiers.org/clinvar/154190 ^@ GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 http://identifiers.org/clinvar/154191 ^@ GRCh38/hg38 Xq28(chrX:152202201-152678580)x1 http://identifiers.org/clinvar/154192 ^@ GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 http://identifiers.org/clinvar/154193 ^@ GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3 http://identifiers.org/clinvar/154194 ^@ GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 http://identifiers.org/clinvar/154195 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1 http://identifiers.org/clinvar/154196 ^@ GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1 http://identifiers.org/clinvar/154199 ^@ GRCh38/hg38 2q12.2-12.3(chr2:106170872-106809420)x3 http://identifiers.org/clinvar/154200 ^@ GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 http://identifiers.org/clinvar/154201 ^@ GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1 http://identifiers.org/clinvar/154202 ^@ GRCh38/hg38 8q11.1-11.21(chr8:46389911-47265481)x3 http://identifiers.org/clinvar/154203 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:140997545-141559081)x2 http://identifiers.org/clinvar/154206 ^@ GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 http://identifiers.org/clinvar/154209 ^@ GRCh38/hg38 2q21.1(chr2:130684164-131278036)x3 http://identifiers.org/clinvar/154210 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22655458-23308687)x1 http://identifiers.org/clinvar/154213 ^@ GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 http://identifiers.org/clinvar/154214 ^@ GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 http://identifiers.org/clinvar/154217 ^@ GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3 http://identifiers.org/clinvar/154219 ^@ GRCh38/hg38 1q41(chr1:217558925-218732002)x3 http://identifiers.org/clinvar/154220 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 http://identifiers.org/clinvar/154221 ^@ GRCh38/hg38 Xp22.33(chrX:1790118-2761052)x3 http://identifiers.org/clinvar/154222 ^@ GRCh38/hg38 6q24.1(chr6:140540054-140888821)x1 http://identifiers.org/clinvar/154223 ^@ GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 http://identifiers.org/clinvar/154224 ^@ GRCh38/hg38 21q21.3(chr21:28268147-28703164)x1 http://identifiers.org/clinvar/154225 ^@ GRCh38/hg38 2q14.1(chr2:115632114-117569316)x3 http://identifiers.org/clinvar/154226 ^@ GRCh38/hg38 6q13(chr6:70794142-71972780)x3 http://identifiers.org/clinvar/154229 ^@ GRCh38/hg38 Xq12(chrX:67713814-67811933)x2 http://identifiers.org/clinvar/154230 ^@ GRCh38/hg38 3q23(chr3:139466635-140108900)x3 http://identifiers.org/clinvar/154232 ^@ GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 http://identifiers.org/clinvar/154234 ^@ GRCh38/hg38 17p12(chr17:14179737-15664355)x3 http://identifiers.org/clinvar/154235 ^@ GRCh38/hg38 10q24.1(chr10:95790119-96029414)x1 http://identifiers.org/clinvar/154236 ^@ GRCh38/hg38 16p12.2(chr16:21750083-22430686)x1 http://identifiers.org/clinvar/154238 ^@ GRCh38/hg38 1q42.12(chr1:224722478-225761035)x1 http://identifiers.org/clinvar/154239 ^@ GRCh38/hg38 18q21.1(chr18:46958020-47093435)x3 http://identifiers.org/clinvar/154240 ^@ GRCh38/hg38 4q35.2(chr4:189102550-190036318)x1 http://identifiers.org/clinvar/154242 ^@ GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1 http://identifiers.org/clinvar/154243 ^@ GRCh38/hg38 16p13.2(chr16:9992260-10398815)x3 http://identifiers.org/clinvar/154246 ^@ GRCh38/hg38 7q21.13(chr7:88777753-89613178)x3 http://identifiers.org/clinvar/154247 ^@ GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 http://identifiers.org/clinvar/154249 ^@ GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 http://identifiers.org/clinvar/154250 ^@ GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3 http://identifiers.org/clinvar/154251 ^@ GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 http://identifiers.org/clinvar/154252 ^@ GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 http://identifiers.org/clinvar/154253 ^@ GRCh38/hg38 Xq21.31(chrX:87322232-87861309)x2 http://identifiers.org/clinvar/154254 ^@ GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1 http://identifiers.org/clinvar/154258 ^@ GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 http://identifiers.org/clinvar/154259 ^@ GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3 http://identifiers.org/clinvar/154260 ^@ GRCh38/hg38 13q32.3(chr13:100244292-100501113)x1 http://identifiers.org/clinvar/154262 ^@ GRCh38/hg38 15q13.3(chr15:32632993-32806319)x3 http://identifiers.org/clinvar/154263 ^@ GRCh38/hg38 18q12.2(chr18:35990843-36963685)x1 http://identifiers.org/clinvar/154264 ^@ GRCh38/hg38 2p25.2(chr2:4774924-5869968)x1 http://identifiers.org/clinvar/154265 ^@ GRCh38/hg38 8q23.1(chr8:106805128-107380054)x3 http://identifiers.org/clinvar/154266 ^@ GRCh38/hg38 2q14.1(chr2:115796963-116171362)x1 http://identifiers.org/clinvar/154267 ^@ GRCh38/hg38 4q34.1(chr4:174543866-174760219)x1 http://identifiers.org/clinvar/154269 ^@ GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1 http://identifiers.org/clinvar/154270 ^@ GRCh38/hg38 7q34(chr7:139476271-140449156)x1 http://identifiers.org/clinvar/154271 ^@ GRCh38/hg38 7q36.3(chr7:158861610-159327017)x1 http://identifiers.org/clinvar/154272 ^@ GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3 http://identifiers.org/clinvar/154273 ^@ GRCh38/hg38 8q22.2(chr8:99055243-99917250)x1 http://identifiers.org/clinvar/154275 ^@ GRCh38/hg38 10q26.3(chr10:131348717-131844995)x3 http://identifiers.org/clinvar/154278 ^@ GRCh38/hg38 1p31.1(chr1:74261660-75056208)x3 http://identifiers.org/clinvar/154280 ^@ GRCh38/hg38 20p12.3(chr20:7125410-8606171)x3 http://identifiers.org/clinvar/154281 ^@ GRCh38/hg38 3p12.3(chr3:75153221-76021659)x3 http://identifiers.org/clinvar/154282 ^@ GRCh38/hg38 3p26.2(chr3:2847667-3320817)x3 http://identifiers.org/clinvar/154283 ^@ GRCh38/hg38 Xp22.33(chrX:1615503-2435294)x3 http://identifiers.org/clinvar/154284 ^@ GRCh38/hg38 5p13.2(chr5:37543146-38120326)x3 http://identifiers.org/clinvar/154286 ^@ GRCh38/hg38 7q36.1(chr7:152019464-152555911)x3 http://identifiers.org/clinvar/154288 ^@ GRCh38/hg38 9p24.1(chr9:5047233-5311643)x1 http://identifiers.org/clinvar/154289 ^@ GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1 http://identifiers.org/clinvar/154292 ^@ GRCh38/hg38 Xq21.1(chrX:77787116-77890125)x3 http://identifiers.org/clinvar/154297 ^@ GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 http://identifiers.org/clinvar/154298 ^@ GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1 http://identifiers.org/clinvar/154299 ^@ GRCh38/hg38 9p23(chr9:9972107-12031786)x1 http://identifiers.org/clinvar/154300 ^@ GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 http://identifiers.org/clinvar/154301 ^@ GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 http://identifiers.org/clinvar/154302 ^@ GRCh38/hg38 18p11.32(chr18:148963-1413685)x1 http://identifiers.org/clinvar/154303 ^@ GRCh38/hg38 18q23(chr18:75946906-80252149)x1 http://identifiers.org/clinvar/154304 ^@ GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 http://identifiers.org/clinvar/154305 ^@ GRCh38/hg38 7q35(chr7:146539138-146966208)x1 http://identifiers.org/clinvar/154306 ^@ GRCh38/hg38 Xp22.11(chrX:23365175-23699251)x1 http://identifiers.org/clinvar/154307 ^@ GRCh38/hg38 Xq11.1(chrX:62712219-62928928)x3 http://identifiers.org/clinvar/154308 ^@ GRCh38/hg38 20q13.32(chr20:58888479-58889699)x3 http://identifiers.org/clinvar/154309 ^@ GRCh38/hg38 2p21(chr2:44941697-44942175)x3 http://identifiers.org/clinvar/154310 ^@ GRCh38/hg38 17q21.31(chr17:46130611-46661960)x3 http://identifiers.org/clinvar/154311 ^@ GRCh38/hg38 4q35.2(chr4:188915479-189171840)x3 http://identifiers.org/clinvar/154312 ^@ GRCh38/hg38 4q35.2(chr4:188915538-189171840)x3 http://identifiers.org/clinvar/154313 ^@ GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 http://identifiers.org/clinvar/154314 ^@ GRCh38/hg38 2p22.3(chr2:35596740-35836838)x1 http://identifiers.org/clinvar/154315 ^@ GRCh38/hg38 3p26.3(chr3:228966-241369)x3 http://identifiers.org/clinvar/154316 ^@ GRCh38/hg38 5q13.2(chr5:70076645-70951975)x3 http://identifiers.org/clinvar/154317 ^@ GRCh38/hg38 5q13.2(chr5:70076645-70951975)x1 http://identifiers.org/clinvar/154318 ^@ GRCh38/hg38 6q26(chr6:161692328-161930607)x1 http://identifiers.org/clinvar/154319 ^@ GRCh38/hg38 3p26.1(chr3:6277545-6810651)x1 http://identifiers.org/clinvar/154320 ^@ GRCh38/hg38 14q32.33(chr14:106692722-106713503)x3 http://identifiers.org/clinvar/154322 ^@ NM_006904.6(PRKDC):c.9185T>G (p.Leu3062Arg) http://identifiers.org/clinvar/154323 ^@ NM_006904.6(PRKDC):c.10721C>T (p.Ala3574Val) http://identifiers.org/clinvar/154324 ^@ NM_006904.6(PRKDC):c.1776+1523dupA http://identifiers.org/clinvar/154325 ^@ GRCh38/hg38 6p25.3(chr6:279208-339797)x3 http://identifiers.org/clinvar/154326 ^@ GRCh38/hg38 8p23.1(chr8:7381949-8222390)x3 http://identifiers.org/clinvar/154327 ^@ GRCh38/hg38 8p23.1(chr8:7381949-8222390)x1 http://identifiers.org/clinvar/154328 ^@ GRCh38/hg38 6p25.3(chr6:279208-339797)x1 http://identifiers.org/clinvar/154329 ^@ GRCh38/hg38 6p25.3(chr6:296546-339797)x3 http://identifiers.org/clinvar/154330 ^@ GRCh38/hg38 6p25.3(chr6:259531-307995)x3 http://identifiers.org/clinvar/154331 ^@ GRCh38/hg38 6p25.3(chr6:259531-307995)x1 http://identifiers.org/clinvar/154332 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106771879)x1 http://identifiers.org/clinvar/154333 ^@ GRCh38/hg38 10q26.3(chr10:133429127-133620609)x3 http://identifiers.org/clinvar/154334 ^@ GRCh38/hg38 8p23.1(chr8:7195674-8222390)x1 http://identifiers.org/clinvar/154335 ^@ GRCh38/hg38 4p16.3(chr4:37335-66424)x1 http://identifiers.org/clinvar/154336 ^@ GRCh38/hg38 8p23.1(chr8:7311988-7895074)x1 http://identifiers.org/clinvar/154337 ^@ GRCh38/hg38 10q26.3(chr10:133461400-133563886)x3 http://identifiers.org/clinvar/154338 ^@ GRCh38/hg38 6p25.3(chr6:259531-339797)x3 http://identifiers.org/clinvar/154339 ^@ GRCh38/hg38 6p25.3(chr6:259531-339797)x1 http://identifiers.org/clinvar/154340 ^@ GRCh38/hg38 10q26.3(chr10:133429127-133563886)x1 http://identifiers.org/clinvar/154341 ^@ GRCh38/hg38 5q13.2(chr5:69679482-71317302)x1 http://identifiers.org/clinvar/154342 ^@ GRCh38/hg38 8p23.1(chr8:7256134-8188790)x1 http://identifiers.org/clinvar/154343 ^@ GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1 http://identifiers.org/clinvar/154344 ^@ GRCh38/hg38 6p25.3(chr6:259531-296605)x3 http://identifiers.org/clinvar/154345 ^@ GRCh38/hg38 10q26.3(chr10:133429127-133563886)x3 http://identifiers.org/clinvar/154346 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2709002-3057632)x1 http://identifiers.org/clinvar/154347 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1 http://identifiers.org/clinvar/154348 ^@ GRCh38/hg38 2p16.3(chr2:50172113-50801952)x3 http://identifiers.org/clinvar/154349 ^@ GRCh38/hg38 4p16.3(chr4:72428-146077)x3 http://identifiers.org/clinvar/154350 ^@ GRCh38/hg38 7q11.23(chr7:73755831-74131326)x1 http://identifiers.org/clinvar/154351 ^@ GRCh38/hg38 9p24.3(chr9:204090-318901)x3 http://identifiers.org/clinvar/154352 ^@ GRCh38/hg38 5q13.2(chr5:69679482-71193646)x3 http://identifiers.org/clinvar/154353 ^@ GRCh38/hg38 1q44(chr1:248804574-248895548)x3 http://identifiers.org/clinvar/154354 ^@ GRCh38/hg38 8p23.1(chr8:7195674-7895074)x1 http://identifiers.org/clinvar/154355 ^@ GRCh38/hg38 8p23.1(chr8:7311988-7834323)x1 http://identifiers.org/clinvar/154356 ^@ GRCh38/hg38 10q26.3(chr10:133468195-133563886)x3 http://identifiers.org/clinvar/154357 ^@ GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3 http://identifiers.org/clinvar/154358 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147036093-147909352)x1 http://identifiers.org/clinvar/154359 ^@ GRCh38/hg38 8p23.1(chr8:7311988-7834323)x3 http://identifiers.org/clinvar/154360 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 http://identifiers.org/clinvar/154361 ^@ GRCh38/hg38 10q11.22(chr10:46154949-46706745)x3 http://identifiers.org/clinvar/154362 ^@ GRCh38/hg38 8p23.1(chr8:7311988-8222390)x3 http://identifiers.org/clinvar/154363 ^@ GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1 http://identifiers.org/clinvar/154364 ^@ GRCh38/hg38 8p23.1(chr8:7311988-7895074)x3 http://identifiers.org/clinvar/154365 ^@ GRCh38/hg38 14q32.33(chr14:106704829-106774412)x3 http://identifiers.org/clinvar/154366 ^@ GRCh38/hg38 4p16.3(chr4:37335-64740)x1 http://identifiers.org/clinvar/154367 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7895074)x1 http://identifiers.org/clinvar/154368 ^@ GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 http://identifiers.org/clinvar/154369 ^@ GRCh38/hg38 14q32.33(chr14:106623930-106689692)x3 http://identifiers.org/clinvar/154370 ^@ GRCh38/hg38 5q13.2(chr5:69942862-71032915)x1 http://identifiers.org/clinvar/154371 ^@ GRCh38/hg38 6p25.3(chr6:164360-293497)x3 http://identifiers.org/clinvar/154372 ^@ GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1 http://identifiers.org/clinvar/154373 ^@ GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 http://identifiers.org/clinvar/154374 ^@ GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 http://identifiers.org/clinvar/154375 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4 http://identifiers.org/clinvar/154376 ^@ GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1 http://identifiers.org/clinvar/154377 ^@ GRCh38/hg38 7q36.1-36.2(chr7:151424353-153358923)x1 http://identifiers.org/clinvar/154378 ^@ GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1 http://identifiers.org/clinvar/154379 ^@ GRCh38/hg38 7q11.22(chr7:72183970-72630810)x1 http://identifiers.org/clinvar/154380 ^@ GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 http://identifiers.org/clinvar/154381 ^@ GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 http://identifiers.org/clinvar/154382 ^@ GRCh38/hg38 7q21.13(chr7:89490493-90170632)x3 http://identifiers.org/clinvar/154383 ^@ GRCh38/hg38 17q11.2(chr17:28757283-29216419)x3 http://identifiers.org/clinvar/154384 ^@ GRCh38/hg38 Xp22.2(chrX:11095773-11240163)x2 http://identifiers.org/clinvar/154385 ^@ GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 http://identifiers.org/clinvar/154386 ^@ GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 http://identifiers.org/clinvar/154387 ^@ GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 http://identifiers.org/clinvar/154388 ^@ GRCh38/hg38 10q21.3(chr10:67349841-67620538)x1 http://identifiers.org/clinvar/154389 ^@ GRCh38/hg38 2q21.3(chr2:135163089-135479264)x1 http://identifiers.org/clinvar/154390 ^@ GRCh38/hg38 2q14.3(chr2:122690086-123216001)x1 http://identifiers.org/clinvar/154392 ^@ GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1 http://identifiers.org/clinvar/154393 ^@ GRCh38/hg38 13q21.1-21.31(chr13:55851510-63770251)x1 http://identifiers.org/clinvar/154394 ^@ GRCh38/hg38 17p12(chr17:15140036-15708439)x3 http://identifiers.org/clinvar/154395 ^@ GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3 http://identifiers.org/clinvar/154396 ^@ GRCh38/hg38 1p35.3-35.2(chr1:29274476-31126076)x1 http://identifiers.org/clinvar/154397 ^@ GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 http://identifiers.org/clinvar/154398 ^@ GRCh38/hg38 17q21.1(chr17:39876786-40048205)x1 http://identifiers.org/clinvar/154399 ^@ GRCh38/hg38 7q31.1(chr7:111199777-111693903)x1 http://identifiers.org/clinvar/154400 ^@ GRCh38/hg38 8q24.23-24.3(chr8:138563758-139174670)x3 http://identifiers.org/clinvar/154401 ^@ GRCh38/hg38 10p13(chr10:16897939-16954954)x3 http://identifiers.org/clinvar/154402 ^@ GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1 http://identifiers.org/clinvar/154403 ^@ GRCh38/hg38 8p23.1(chr8:7311988-7948705)x3 http://identifiers.org/clinvar/154404 ^@ GRCh38/hg38 8p23.1(chr8:7311988-7948705)x1 http://identifiers.org/clinvar/154405 ^@ GRCh38/hg38 14q32.33(chr14:106689633-106774412)x3 http://identifiers.org/clinvar/154406 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/154407 ^@ GRCh38/hg38 5q13.2(chr5:69942862-71291192)x3 http://identifiers.org/clinvar/154408 ^@ GRCh38/hg38 10q26.3(chr10:133538858-133620609)x3 http://identifiers.org/clinvar/154409 ^@ GRCh38/hg38 8p23.1(chr8:7195674-7948705)x1 http://identifiers.org/clinvar/154410 ^@ GRCh38/hg38 17p13.3(chr17:186959-969740)x1 http://identifiers.org/clinvar/154411 ^@ GRCh38/hg38 2p16.3(chr2:50974455-50999101)x1 http://identifiers.org/clinvar/154412 ^@ GRCh38/hg38 Yq11.222(chrY:18664296-19478351)x2 http://identifiers.org/clinvar/154413 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 http://identifiers.org/clinvar/154414 ^@ GRCh38/hg38 2q37.3(chr2:241914448-242126251)x1 http://identifiers.org/clinvar/154415 ^@ GRCh38/hg38 8p23.1(chr8:7411303-7948705)x3 http://identifiers.org/clinvar/154416 ^@ GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3 http://identifiers.org/clinvar/154417 ^@ GRCh38/hg38 8p23.1(chr8:7512656-7895074)x1 http://identifiers.org/clinvar/154418 ^@ GRCh38/hg38 5q13.2(chr5:69942862-71090767)x3 http://identifiers.org/clinvar/154419 ^@ GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 http://identifiers.org/clinvar/154420 ^@ GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 http://identifiers.org/clinvar/154421 ^@ GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1 http://identifiers.org/clinvar/154422 ^@ GRCh38/hg38 1q31.1(chr1:189593095-190116947)x3 http://identifiers.org/clinvar/154423 ^@ GRCh38/hg38 16p13.3(chr16:6796599-6996176)x1 http://identifiers.org/clinvar/154424 ^@ GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3 http://identifiers.org/clinvar/154425 ^@ GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1 http://identifiers.org/clinvar/154426 ^@ GRCh38/hg38 14q32.33(chr14:106467689-106774412)x3 http://identifiers.org/clinvar/154427 ^@ GRCh38/hg38 8p23.1(chr8:7381949-7948705)x1 http://identifiers.org/clinvar/154428 ^@ GRCh38/hg38 1q44(chr1:245979870-246615151)x3 http://identifiers.org/clinvar/154429 ^@ GRCh38/hg38 Xp21.3(chrX:27407463-28159741)x1 http://identifiers.org/clinvar/154430 ^@ GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 http://identifiers.org/clinvar/154431 ^@ GRCh38/hg38 8p23.1(chr8:7311988-8273109)x3 http://identifiers.org/clinvar/154432 ^@ GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 http://identifiers.org/clinvar/154433 ^@ GRCh38/hg38 16p11.2(chr16:29662646-30179272)x1 http://identifiers.org/clinvar/154434 ^@ GRCh38/hg38 2q37.3(chr2:241944222-242016199)x3 http://identifiers.org/clinvar/154435 ^@ GRCh38/hg38 14q32.33(chr14:106699079-106774412)x1 http://identifiers.org/clinvar/154436 ^@ GRCh38/hg38 Xp11.23(chrX:47820357-48344664)x2 http://identifiers.org/clinvar/154437 ^@ GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 http://identifiers.org/clinvar/154438 ^@ GRCh38/hg38 Xp11.22(chrX:53374635-53878183)x3 http://identifiers.org/clinvar/154439 ^@ GRCh38/hg38 20q13.33(chr20:64177078-64277326)x3 http://identifiers.org/clinvar/154440 ^@ GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1 http://identifiers.org/clinvar/154441 ^@ GRCh38/hg38 3p26.1(chr3:4952791-5689195)x3 http://identifiers.org/clinvar/154442 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3 http://identifiers.org/clinvar/154443 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 http://identifiers.org/clinvar/154444 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 http://identifiers.org/clinvar/154445 ^@ GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3 http://identifiers.org/clinvar/154446 ^@ GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1 http://identifiers.org/clinvar/154447 ^@ GRCh38/hg38 Xp11.22(chrX:53397800-53403846)x1 http://identifiers.org/clinvar/154448 ^@ GRCh38/hg38 8p23.1(chr8:8273108-9687019)x1 http://identifiers.org/clinvar/154449 ^@ GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 http://identifiers.org/clinvar/154450 ^@ GRCh38/hg38 2q14.2(chr2:118783531-118995100)x1 http://identifiers.org/clinvar/154451 ^@ GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 http://identifiers.org/clinvar/154452 ^@ GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3 http://identifiers.org/clinvar/154453 ^@ GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1 http://identifiers.org/clinvar/154454 ^@ GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1 http://identifiers.org/clinvar/154455 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28446255-30073921)x1 http://identifiers.org/clinvar/154456 ^@ GRCh38/hg38 18q21.1-21.2(chr18:50654541-50922497)x3 http://identifiers.org/clinvar/154457 ^@ GRCh38/hg38 4q34.1(chr4:171909804-172200287)x1 http://identifiers.org/clinvar/154458 ^@ GRCh38/hg38 4q34.3(chr4:177769228-178266841)x1 http://identifiers.org/clinvar/154459 ^@ GRCh38/hg38 Xq13.3-21.1(chrX:76344954-77070816)x3 http://identifiers.org/clinvar/154460 ^@ GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 http://identifiers.org/clinvar/154461 ^@ GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 http://identifiers.org/clinvar/154463 ^@ GRCh38/hg38 13q22.1-22.2(chr13:74604761-75438226)x1 http://identifiers.org/clinvar/154464 ^@ GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1 http://identifiers.org/clinvar/154465 ^@ GRCh38/hg38 10q25.3(chr10:115336742-115537174)x1 http://identifiers.org/clinvar/154466 ^@ GRCh38/hg38 4q13.1(chr4:61356169-62527994)x3 http://identifiers.org/clinvar/154467 ^@ GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1 http://identifiers.org/clinvar/154468 ^@ GRCh38/hg38 7p21.1(chr7:18638299-18952323)x1 http://identifiers.org/clinvar/154469 ^@ GRCh38/hg38 Xp22.33(chrX:3501549-3758140)x1 http://identifiers.org/clinvar/154470 ^@ GRCh38/hg38 2p16.3(chr2:48581695-49195508)x3 http://identifiers.org/clinvar/154471 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 http://identifiers.org/clinvar/154472 ^@ GRCh38/hg38 14q21.3(chr14:47284994-47805206)x3 http://identifiers.org/clinvar/154473 ^@ GRCh38/hg38 Yq12(chrY:56992525-57166951)x0 http://identifiers.org/clinvar/154474 ^@ GRCh38/hg38 16q23.3(chr16:82529945-83629769)x3 http://identifiers.org/clinvar/154475 ^@ GRCh38/hg38 19p12(chr19:23441726-24128733)x1 http://identifiers.org/clinvar/154476 ^@ GRCh38/hg38 7q11.23(chr7:76584501-76928848)x1 http://identifiers.org/clinvar/154477 ^@ GRCh38/hg38 5p15.33(chr5:629140-820501)x3 http://identifiers.org/clinvar/154478 ^@ GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1 http://identifiers.org/clinvar/154479 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 http://identifiers.org/clinvar/154480 ^@ GRCh38/hg38 8p22(chr8:13544227-14757731)x4 http://identifiers.org/clinvar/154481 ^@ GRCh38/hg38 6q11.1(chr6:61468685-62167348)x3 http://identifiers.org/clinvar/154483 ^@ GRCh38/hg38 2q13(chr2:110104900-110207160)x4 http://identifiers.org/clinvar/154484 ^@ GRCh38/hg38 2p12(chr2:77120615-77959416)x3 http://identifiers.org/clinvar/154485 ^@ GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 http://identifiers.org/clinvar/154486 ^@ GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1 http://identifiers.org/clinvar/154487 ^@ GRCh38/hg38 13q32.1(chr13:96029185-96540775)x1 http://identifiers.org/clinvar/154488 ^@ GRCh38/hg38 2q22.1(chr2:137028226-137470344)x1 http://identifiers.org/clinvar/154491 ^@ GRCh38/hg38 5p15.2(chr5:12513493-13227648)x1 http://identifiers.org/clinvar/154492 ^@ GRCh38/hg38 1q31.1-31.2(chr1:189460972-190945450)x3 http://identifiers.org/clinvar/154494 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x1 http://identifiers.org/clinvar/154495 ^@ GRCh38/hg38 8q13.2(chr8:67609185-68060879)x1 http://identifiers.org/clinvar/154497 ^@ GRCh38/hg38 7p22.2(chr7:3589872-3697219)x1 http://identifiers.org/clinvar/154498 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3 http://identifiers.org/clinvar/154499 ^@ GRCh38/hg38 13q31.3(chr13:91413406-91615115)x1 http://identifiers.org/clinvar/154500 ^@ GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x4 http://identifiers.org/clinvar/154501 ^@ GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x3 http://identifiers.org/clinvar/154502 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28492482-29170875)x3 http://identifiers.org/clinvar/154503 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4 http://identifiers.org/clinvar/154504 ^@ GRCh38/hg38 20q13.13(chr20:47858604-48480223)x1 http://identifiers.org/clinvar/154505 ^@ GRCh38/hg38 8p11.21-11.1(chr8:43115130-43673207)x4 http://identifiers.org/clinvar/154506 ^@ GRCh38/hg38 8p11.21-11.1(chr8:43115130-43673207)x3 http://identifiers.org/clinvar/154507 ^@ GRCh38/hg38 20p12.1(chr20:12776078-13349316)x3 http://identifiers.org/clinvar/154508 ^@ GRCh38/hg38 3p26.3(chr3:1780588-2221008)x3 http://identifiers.org/clinvar/154509 ^@ GRCh38/hg38 Xq13.3(chrX:75243922-75372926)x3 http://identifiers.org/clinvar/154510 ^@ GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 http://identifiers.org/clinvar/154512 ^@ GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3 http://identifiers.org/clinvar/154513 ^@ GRCh38/hg38 18q23(chr18:76635470-80252149)x1 http://identifiers.org/clinvar/154514 ^@ GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3 http://identifiers.org/clinvar/154515 ^@ GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3 http://identifiers.org/clinvar/154516 ^@ GRCh38/hg38 3p26.3(chr3:52266-1091944)x1 http://identifiers.org/clinvar/154517 ^@ GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1 http://identifiers.org/clinvar/154518 ^@ GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3 http://identifiers.org/clinvar/154519 ^@ GRCh38/hg38 16q12.1(chr16:47320682-47525728)x1 http://identifiers.org/clinvar/154520 ^@ GRCh38/hg38 1q25.2(chr1:180062193-180248477)x3 http://identifiers.org/clinvar/154521 ^@ GRCh38/hg38 16q24.2(chr16:87766820-88391819)x3 http://identifiers.org/clinvar/154522 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 http://identifiers.org/clinvar/154523 ^@ GRCh38/hg38 20p13(chr20:3177313-3849958)x1 http://identifiers.org/clinvar/154524 ^@ GRCh38/hg38 Xp22.2(chrX:11674170-12615106)x3 http://identifiers.org/clinvar/154525 ^@ GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 http://identifiers.org/clinvar/154526 ^@ GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 http://identifiers.org/clinvar/154527 ^@ GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 http://identifiers.org/clinvar/154528 ^@ GRCh38/hg38 12p13.33(chr12:121255-3003320)x1 http://identifiers.org/clinvar/154530 ^@ GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 http://identifiers.org/clinvar/154531 ^@ GRCh38/hg38 2p21(chr2:46573689-46732838)x3 http://identifiers.org/clinvar/154532 ^@ GRCh38/hg38 7q21.13(chr7:88685497-90170632)x3 http://identifiers.org/clinvar/154533 ^@ GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 http://identifiers.org/clinvar/154534 ^@ GRCh38/hg38 2p22.3(chr2:32289459-33024069)x3 http://identifiers.org/clinvar/154535 ^@ GRCh38/hg38 16q24.3(chr16:89217281-89536982)x1 http://identifiers.org/clinvar/154536 ^@ GRCh38/hg38 2q37.3(chr2:241988449-242005889)x1 http://identifiers.org/clinvar/154537 ^@ GRCh38/hg38 3q29(chr3:195729616-195732718)x3 http://identifiers.org/clinvar/154538 ^@ GRCh38/hg38 22q13.1(chr22:38963107-38989480)x1 http://identifiers.org/clinvar/154539 ^@ GRCh38/hg38 2q37.1(chr2:232376206-232542668)x3 http://identifiers.org/clinvar/154540 ^@ GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1 http://identifiers.org/clinvar/154541 ^@ GRCh38/hg38 1q44(chr1:247716624-248114768)x3 http://identifiers.org/clinvar/154542 ^@ GRCh38/hg38 18q22.3(chr18:74497831-74631495)x3 http://identifiers.org/clinvar/154543 ^@ GRCh38/hg38 6q26(chr6:162086023-162820579)x3 http://identifiers.org/clinvar/154544 ^@ GRCh38/hg38 4p16.1(chr4:9369290-10250666)x3 http://identifiers.org/clinvar/154545 ^@ GRCh38/hg38 Xp22.33(chrX:794679-1132649)x3 http://identifiers.org/clinvar/154546 ^@ GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1 http://identifiers.org/clinvar/154547 ^@ GRCh38/hg38 2p16.3(chr2:50915711-51283823)x1 http://identifiers.org/clinvar/154548 ^@ GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 http://identifiers.org/clinvar/154549 ^@ GRCh38/hg38 9p21.3(chr9:24386548-24942409)x3 http://identifiers.org/clinvar/154550 ^@ GRCh38/hg38 6p25.3(chr6:259531-289298)x3 http://identifiers.org/clinvar/154551 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106713514)x1 http://identifiers.org/clinvar/154552 ^@ GRCh38/hg38 2q37.3(chr2:241981931-242011489)x3 http://identifiers.org/clinvar/154553 ^@ GRCh38/hg38 3q11.1-11.2(chr3:93856445-94026979)x3 http://identifiers.org/clinvar/154554 ^@ GRCh38/hg38 17q21.31(chr17:46130519-46662118)x3 http://identifiers.org/clinvar/154555 ^@ GRCh38/hg38 11p11.2(chr11:44280025-44284099)x1 http://identifiers.org/clinvar/154556 ^@ GRCh38/hg38 11q25(chr11:134511773-134850524)x3 http://identifiers.org/clinvar/154557 ^@ GRCh38/hg38 3p26.3(chr3:190587-608819)x1 http://identifiers.org/clinvar/154558 ^@ GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 http://identifiers.org/clinvar/154559 ^@ GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1 http://identifiers.org/clinvar/154560 ^@ GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 http://identifiers.org/clinvar/154561 ^@ GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1 http://identifiers.org/clinvar/154562 ^@ GRCh38/hg38 16p13.2-13.13(chr16:10012281-10426437)x3 http://identifiers.org/clinvar/154563 ^@ GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1 http://identifiers.org/clinvar/154564 ^@ GRCh38/hg38 17q25.3(chr17:82911614-83048826)x1 http://identifiers.org/clinvar/154565 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30646012-30952022)x1 http://identifiers.org/clinvar/154566 ^@ GRCh38/hg38 15q13.3(chr15:31956248-32218662)x3 http://identifiers.org/clinvar/154567 ^@ GRCh38/hg38 Xq21.31(chrX:92179302-92264623)x3 http://identifiers.org/clinvar/154568 ^@ GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1 http://identifiers.org/clinvar/154569 ^@ GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 http://identifiers.org/clinvar/154570 ^@ GRCh38/hg38 16p13.3(chr16:984540-986105)x3 http://identifiers.org/clinvar/154571 ^@ GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1 http://identifiers.org/clinvar/154572 ^@ GRCh38/hg38 8p11.22(chr8:39401375-39528639)x3 http://identifiers.org/clinvar/154573 ^@ GRCh38/hg38 2p16.3(chr2:50623553-50754975)x1 http://identifiers.org/clinvar/154574 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 http://identifiers.org/clinvar/154576 ^@ GRCh38/hg38 4q35.2(chr4:187987662-189975519)x1 http://identifiers.org/clinvar/154577 ^@ GRCh38/hg38 17q21.31(chr17:46444520-46661960)x3 http://identifiers.org/clinvar/154578 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 http://identifiers.org/clinvar/154579 ^@ GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 http://identifiers.org/clinvar/154580 ^@ GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3 http://identifiers.org/clinvar/154581 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 http://identifiers.org/clinvar/154582 ^@ GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1 http://identifiers.org/clinvar/154583 ^@ GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 http://identifiers.org/clinvar/154584 ^@ GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 http://identifiers.org/clinvar/154585 ^@ GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1 http://identifiers.org/clinvar/154586 ^@ GRCh38/hg38 4q32.2(chr4:162143449-162390505)x1 http://identifiers.org/clinvar/154587 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x1 http://identifiers.org/clinvar/154588 ^@ GRCh38/hg38 22q13.1(chr22:37537317-37803357)x3 http://identifiers.org/clinvar/154589 ^@ GRCh38/hg38 4q22.2(chr4:93343337-93541770)x3 http://identifiers.org/clinvar/154590 ^@ GRCh38/hg38 1q31.1(chr1:188605312-189886436)x1 http://identifiers.org/clinvar/154592 ^@ GRCh38/hg38 10p15.3(chr10:899498-1339873)x3 http://identifiers.org/clinvar/154593 ^@ GRCh38/hg38 3p26.1(chr3:4827431-5187097)x3 http://identifiers.org/clinvar/154594 ^@ GRCh38/hg38 2p11.2(chr2:83448114-83990562)x3 http://identifiers.org/clinvar/154595 ^@ GRCh38/hg38 Yq11.223(chrY:21034147-22358529)x2 http://identifiers.org/clinvar/154596 ^@ GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 http://identifiers.org/clinvar/154598 ^@ GRCh38/hg38 3p14.3-14.2(chr3:58534847-60199939)x3 http://identifiers.org/clinvar/154599 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/154600 ^@ GRCh38/hg38 2q31.1(chr2:172296909-172932166)x3 http://identifiers.org/clinvar/154602 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3 http://identifiers.org/clinvar/154603 ^@ GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 http://identifiers.org/clinvar/154605 ^@ GRCh38/hg38 2q24.3(chr2:165986097-166443535)x1 http://identifiers.org/clinvar/154607 ^@ GRCh38/hg38 7p22.1(chr7:5331115-5508766)x1 http://identifiers.org/clinvar/154608 ^@ GRCh38/hg38 14q21.1(chr14:41412898-41858679)x1 http://identifiers.org/clinvar/154609 ^@ GRCh38/hg38 15q13.3(chr15:31680443-32217725)x1 http://identifiers.org/clinvar/154610 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 http://identifiers.org/clinvar/154611 ^@ GRCh38/hg38 Xq26.3-27.1(chrX:138856521-139474149)x3 http://identifiers.org/clinvar/154612 ^@ GRCh38/hg38 Xq21.1(chrX:80921556-83715625)x0 http://identifiers.org/clinvar/154613 ^@ GRCh38/hg38 3p26.3(chr3:1091885-1880834)x3 http://identifiers.org/clinvar/154614 ^@ GRCh38/hg38 Xp22.31(chrX:8327550-8588267)x3 http://identifiers.org/clinvar/154615 ^@ GRCh38/hg38 1q43-44(chr1:243304751-244019666)x3 http://identifiers.org/clinvar/154616 ^@ GRCh38/hg38 1q31.3(chr1:196776934-196828033)x1 http://identifiers.org/clinvar/154617 ^@ GRCh38/hg38 15q11.2(chr15:22787972-23088545)x3 http://identifiers.org/clinvar/154618 ^@ GRCh38/hg38 2q37.3(chr2:242055528-242072968)x1 http://identifiers.org/clinvar/154619 ^@ GRCh38/hg38 5q21.3(chr5:105137553-105693945)x3 http://identifiers.org/clinvar/154620 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28840698-30361733)x3 http://identifiers.org/clinvar/154621 ^@ GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 http://identifiers.org/clinvar/154623 ^@ GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 http://identifiers.org/clinvar/154624 ^@ GRCh38/hg38 16q22.2-22.3(chr16:72253272-72817271)x1 http://identifiers.org/clinvar/154625 ^@ GRCh38/hg38 Xp22.31(chrX:7150681-7325303)x2 http://identifiers.org/clinvar/154626 ^@ GRCh38/hg38 17q11.1-11.2(chr17:27016149-27527964)x3 http://identifiers.org/clinvar/154627 ^@ GRCh38/hg38 22q13.1(chr22:38957661-39011489)x1 http://identifiers.org/clinvar/154628 ^@ GRCh38/hg38 1q31.3(chr1:196819082-196914268)x1 http://identifiers.org/clinvar/154629 ^@ GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 http://identifiers.org/clinvar/154630 ^@ GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 http://identifiers.org/clinvar/154631 ^@ GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 http://identifiers.org/clinvar/154632 ^@ GRCh38/hg38 14q13.2(chr14:35109816-35151026)x1 http://identifiers.org/clinvar/154633 ^@ GRCh38/hg38 3p14.2(chr3:58870233-59620738)x3 http://identifiers.org/clinvar/154634 ^@ GRCh38/hg38 19q13.32(chr19:44848450-44882552)x1 http://identifiers.org/clinvar/154635 ^@ GRCh38/hg38 17q25.3(chr17:81145383-81251829)x3 http://identifiers.org/clinvar/154636 ^@ GRCh38/hg38 11p15.4(chr11:7795944-7825502)x1 http://identifiers.org/clinvar/154637 ^@ GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3 http://identifiers.org/clinvar/154638 ^@ GRCh38/hg38 1p21.1(chr1:103582313-103754679)x3 http://identifiers.org/clinvar/154639 ^@ GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1 http://identifiers.org/clinvar/154640 ^@ GRCh38/hg38 4q32.1(chr4:156633209-157164720)x1 http://identifiers.org/clinvar/154641 ^@ GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 http://identifiers.org/clinvar/154642 ^@ GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 http://identifiers.org/clinvar/154643 ^@ GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1 http://identifiers.org/clinvar/154644 ^@ GRCh38/hg38 19q13.11(chr19:33738413-33998042)x1 http://identifiers.org/clinvar/154645 ^@ GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3 http://identifiers.org/clinvar/154646 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/154647 ^@ GRCh38/hg38 14q13.3(chr14:36785334-37228540)x1 http://identifiers.org/clinvar/154649 ^@ GRCh38/hg38 4q34.1(chr4:172200228-172684931)x1 http://identifiers.org/clinvar/154650 ^@ GRCh38/hg38 6q25.3(chr6:156353632-157547741)x3 http://identifiers.org/clinvar/154651 ^@ GRCh38/hg38 1p35.2(chr1:30811959-31402772)x1 http://identifiers.org/clinvar/154652 ^@ GRCh38/hg38 4q35.2(chr4:189343236-189869726)x3 http://identifiers.org/clinvar/154653 ^@ GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3 http://identifiers.org/clinvar/154654 ^@ GRCh38/hg38 15q11.2(chr15:24888564-24931279)x1 http://identifiers.org/clinvar/154656 ^@ GRCh38/hg38 7p21.3(chr7:9699856-10387457)x3 http://identifiers.org/clinvar/154657 ^@ GRCh38/hg38 12q21.31(chr12:80195590-80500002)x1 http://identifiers.org/clinvar/154658 ^@ GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 http://identifiers.org/clinvar/154659 ^@ GRCh38/hg38 18p11.32(chr18:225061-776965)x3 http://identifiers.org/clinvar/154660 ^@ GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 http://identifiers.org/clinvar/154661 ^@ GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1 http://identifiers.org/clinvar/154663 ^@ GRCh38/hg38 Xp22.11(chrX:23052089-23365234)x0 http://identifiers.org/clinvar/154664 ^@ GRCh38/hg38 6p25.3(chr6:1093293-1322172)x3 http://identifiers.org/clinvar/154665 ^@ GRCh38/hg38 2q32.1-32.2(chr2:188335678-188503740)x1 http://identifiers.org/clinvar/154666 ^@ GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3 http://identifiers.org/clinvar/154667 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 http://identifiers.org/clinvar/154668 ^@ GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3 http://identifiers.org/clinvar/154669 ^@ GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1 http://identifiers.org/clinvar/154670 ^@ GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 http://identifiers.org/clinvar/154671 ^@ GRCh38/hg38 14q21.2(chr14:45352239-45510526)x1 http://identifiers.org/clinvar/154672 ^@ GRCh38/hg38 Xq28(chrX:155227210-155331063)x2 http://identifiers.org/clinvar/154673 ^@ GRCh38/hg38 10q22.1(chr10:71169571-71556196)x1 http://identifiers.org/clinvar/154674 ^@ GRCh38/hg38 2p14(chr2:67161296-67998206)x1 http://identifiers.org/clinvar/154675 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42850107-43141456)x1 http://identifiers.org/clinvar/154676 ^@ GRCh38/hg38 5p15.33(chr5:79031-138331)x3 http://identifiers.org/clinvar/154677 ^@ GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3 http://identifiers.org/clinvar/154678 ^@ GRCh38/hg38 5p15.33(chr5:574789-759113)x1 http://identifiers.org/clinvar/154679 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:2790845-6495923)x0 http://identifiers.org/clinvar/154680 ^@ GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 http://identifiers.org/clinvar/154681 ^@ GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 http://identifiers.org/clinvar/154683 ^@ GRCh38/hg38 4q31.23(chr4:148278762-149544075)x3 http://identifiers.org/clinvar/154684 ^@ GRCh38/hg38 14q21.1(chr14:40490809-41165228)x1 http://identifiers.org/clinvar/154685 ^@ GRCh38/hg38 1q31.1(chr1:189160201-189955259)x3 http://identifiers.org/clinvar/154686 ^@ GRCh38/hg38 15q26.3(chr15:101500777-101552881)x3 http://identifiers.org/clinvar/154688 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 http://identifiers.org/clinvar/154689 ^@ GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 http://identifiers.org/clinvar/154690 ^@ GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 http://identifiers.org/clinvar/154691 ^@ GRCh38/hg38 3p22.2(chr3:36935294-37058124)x3 http://identifiers.org/clinvar/154692 ^@ GRCh38/hg38 Xq11.1(chrX:62779286-62913742)x2 http://identifiers.org/clinvar/154693 ^@ GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 http://identifiers.org/clinvar/154694 ^@ GRCh38/hg38 9q34.3(chr9:137763015-137902180)x3 http://identifiers.org/clinvar/154695 ^@ GRCh38/hg38 5q32-33.1(chr5:150356455-150688333)x3 http://identifiers.org/clinvar/154697 ^@ GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3 http://identifiers.org/clinvar/154698 ^@ GRCh38/hg38 16p13.3(chr16:752357-1064093)x1 http://identifiers.org/clinvar/154699 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 http://identifiers.org/clinvar/154700 ^@ GRCh38/hg38 15q26.3(chr15:101552822-101843270)x1 http://identifiers.org/clinvar/154701 ^@ GRCh38/hg38 5p14.3(chr5:22156478-22582784)x3 http://identifiers.org/clinvar/154702 ^@ GRCh38/hg38 Yq11.222-11.223(chrY:18664321-22358529)x2 http://identifiers.org/clinvar/154703 ^@ GRCh38/hg38 16p13.3(chr16:2586110-2804741)x1 http://identifiers.org/clinvar/154704 ^@ GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 http://identifiers.org/clinvar/154705 ^@ GRCh38/hg38 8q23.3(chr8:112917511-113118926)x1 http://identifiers.org/clinvar/154706 ^@ GRCh38/hg38 5p14.3(chr5:19364111-20049661)x1 http://identifiers.org/clinvar/154707 ^@ GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1 http://identifiers.org/clinvar/154708 ^@ GRCh38/hg38 3p12.2(chr3:79804233-80994156)x1 http://identifiers.org/clinvar/154709 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 http://identifiers.org/clinvar/154710 ^@ GRCh38/hg38 4p16.3(chr4:1813036-1849079)x1 http://identifiers.org/clinvar/154711 ^@ GRCh38/hg38 6p25.3(chr6:259881-307998)x1 http://identifiers.org/clinvar/154712 ^@ GRCh38/hg38 6q27(chr6:170523344-170602152)x3 http://identifiers.org/clinvar/154713 ^@ GRCh38/hg38 5p12(chr5:45858731-45880607)x1 http://identifiers.org/clinvar/154714 ^@ GRCh38/hg38 15q15.3(chr15:43624774-43659103)x1 http://identifiers.org/clinvar/154715 ^@ GRCh38/hg38 15q15.2-15.3(chr15:43298918-43558944)x3 http://identifiers.org/clinvar/154716 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 http://identifiers.org/clinvar/154717 ^@ GRCh38/hg38 1q21.1(chr1:143546346-143780484)x1 http://identifiers.org/clinvar/154718 ^@ GRCh38/hg38 1p35.3(chr1:29260983-29831866)x1 http://identifiers.org/clinvar/154720 ^@ GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 http://identifiers.org/clinvar/154721 ^@ GRCh38/hg38 10p15.3(chr10:378126-457520)x1 http://identifiers.org/clinvar/154723 ^@ GRCh38/hg38 Xp22.31(chrX:6536171-8147112)x0 http://identifiers.org/clinvar/154724 ^@ GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 http://identifiers.org/clinvar/154725 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32569425)x3 http://identifiers.org/clinvar/154726 ^@ GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 http://identifiers.org/clinvar/154727 ^@ GRCh38/hg38 4q35.2(chr4:187541265-188115140)x3 http://identifiers.org/clinvar/154728 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/154729 ^@ GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3 http://identifiers.org/clinvar/154731 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 http://identifiers.org/clinvar/154733 ^@ GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1 http://identifiers.org/clinvar/154734 ^@ GRCh38/hg38 21q22.12(chr21:34507402-34693381)x1 http://identifiers.org/clinvar/154735 ^@ GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 http://identifiers.org/clinvar/154736 ^@ GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 http://identifiers.org/clinvar/154737 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/154738 ^@ GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 http://identifiers.org/clinvar/154739 ^@ GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 http://identifiers.org/clinvar/154741 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1 http://identifiers.org/clinvar/154742 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3 http://identifiers.org/clinvar/154744 ^@ GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1 http://identifiers.org/clinvar/154745 ^@ GRCh38/hg38 7q34(chr7:142503036-142753745)x1 http://identifiers.org/clinvar/154746 ^@ GRCh38/hg38 4p16.1(chr4:8606112-9556518)x3 http://identifiers.org/clinvar/154747 ^@ GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3 http://identifiers.org/clinvar/154748 ^@ GRCh38/hg38 8p11.22(chr8:39379923-39505396)x1 http://identifiers.org/clinvar/154749 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 http://identifiers.org/clinvar/154750 ^@ GRCh38/hg38 10q26.3(chr10:133440549-133620609)x3 http://identifiers.org/clinvar/154751 ^@ GRCh38/hg38 7q34(chr7:142749675-142753076)x1 http://identifiers.org/clinvar/154752 ^@ GRCh38/hg38 13q12.11(chr13:20234428-20504762)x1 http://identifiers.org/clinvar/154753 ^@ GRCh38/hg38 7p22.3(chr7:94063-227860)x3 http://identifiers.org/clinvar/154754 ^@ GRCh38/hg38 Xp22.33(chrX:391777-392429)x1 http://identifiers.org/clinvar/154755 ^@ GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1 http://identifiers.org/clinvar/154756 ^@ GRCh38/hg38 Xq28(chrX:155745034-156003229)x0 http://identifiers.org/clinvar/154757 ^@ GRCh38/hg38 22q11.21(chr22:18178932-18996999)x3 http://identifiers.org/clinvar/154758 ^@ GRCh38/hg38 18q22.1(chr18:66242392-66790287)x1 http://identifiers.org/clinvar/154759 ^@ GRCh38/hg38 14q11.2(chr14:21973759-22398359)x3 http://identifiers.org/clinvar/154760 ^@ GRCh38/hg38 13q31.2(chr13:88823975-89016451)x3 http://identifiers.org/clinvar/154761 ^@ GRCh38/hg38 15q15.3(chr15:43624777-43659119)x3 http://identifiers.org/clinvar/154762 ^@ GRCh38/hg38 7q34(chr7:142750885-142753076)x1 http://identifiers.org/clinvar/154763 ^@ GRCh38/hg38 7q34(chr7:142750885-142752607)x1 http://identifiers.org/clinvar/154764 ^@ GRCh38/hg38 Xp21.1(chrX:32275729-32353585)x1 http://identifiers.org/clinvar/154765 ^@ GRCh38/hg38 17p13.3(chr17:2599583-2624994)x3 http://identifiers.org/clinvar/154766 ^@ GRCh38/hg38 19q11(chr19:27806964-27827471)x1 http://identifiers.org/clinvar/154767 ^@ GRCh38/hg38 1p36.13(chr1:16037803-16056011)x3 http://identifiers.org/clinvar/154768 ^@ GRCh38/hg38 1p34.1(chr1:44817130-45230407)x3 http://identifiers.org/clinvar/154769 ^@ GRCh38/hg38 8p11.1(chr8:43516300-43526369)x3 http://identifiers.org/clinvar/154770 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42850110-43025735)x1 http://identifiers.org/clinvar/154771 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42850110-43237562)x1 http://identifiers.org/clinvar/154772 ^@ GRCh38/hg38 17p12(chr17:14208455-15579558)x3 http://identifiers.org/clinvar/154773 ^@ GRCh37/hg19 1q21.2(chr1:149041023-149433207)x1 http://identifiers.org/clinvar/154774 ^@ GRCh38/hg38 9p24.3(chr9:204090-416321)x3 http://identifiers.org/clinvar/154775 ^@ GRCh38/hg38 7q34(chr7:142752258-142753076)x1 http://identifiers.org/clinvar/154776 ^@ GRCh38/hg38 1q31.3(chr1:196775791-196830176)x3 http://identifiers.org/clinvar/154777 ^@ GRCh38/hg38 1p21.1(chr1:103642842-103668450)x3 http://identifiers.org/clinvar/154778 ^@ GRCh38/hg38 Xq28(chrX:153688786-153697468)x2 http://identifiers.org/clinvar/154779 ^@ GRCh38/hg38 3q13.32(chr3:119016439-119098881)x3 http://identifiers.org/clinvar/154780 ^@ GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1 http://identifiers.org/clinvar/154781 ^@ GRCh38/hg38 16q23.1(chr16:74340127-74421435)x3 http://identifiers.org/clinvar/154782 ^@ GRCh38/hg38 17q21.31(chr17:46094491-46275893)x3 http://identifiers.org/clinvar/154783 ^@ GRCh38/hg38 Xq28(chrX:154024864-154029207)x1 http://identifiers.org/clinvar/154784 ^@ GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1 http://identifiers.org/clinvar/154785 ^@ GRCh38/hg38 11q14.3(chr11:89812282-89831888)x3 http://identifiers.org/clinvar/154786 ^@ GRCh38/hg38 4p11(chr4:49259000-49313852)x3 http://identifiers.org/clinvar/154787 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 http://identifiers.org/clinvar/154790 ^@ GRCh38/hg38 3p26.2-26.1(chr3:3762936-4341698)x1 http://identifiers.org/clinvar/154791 ^@ GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 http://identifiers.org/clinvar/154792 ^@ GRCh38/hg38 6p21.33(chr6:31996044-32040430)x3 http://identifiers.org/clinvar/154793 ^@ GRCh38/hg38 6p21.33(chr6:31996044-32040430)x1 http://identifiers.org/clinvar/154794 ^@ GRCh38/hg38 13q12.11(chr13:19841545-19871196)x3 http://identifiers.org/clinvar/154795 ^@ GRCh38/hg38 4q13.2(chr4:69290388-69358840)x3 http://identifiers.org/clinvar/154796 ^@ GRCh38/hg38 3p22.2(chr3:36828515-37007227)x1 http://identifiers.org/clinvar/154797 ^@ GRCh38/hg38 16p13.11(chr16:16431458-16678529)x1 http://identifiers.org/clinvar/154798 ^@ GRCh38/hg38 6p25.3(chr6:164360-255383)x3 http://identifiers.org/clinvar/154799 ^@ GRCh38/hg38 20q11.21(chr20:31350232-31370492)x1 http://identifiers.org/clinvar/154800 ^@ GRCh38/hg38 3p21.31(chr3:46726614-46968315)x1 http://identifiers.org/clinvar/154801 ^@ GRCh38/hg38 13q13.3(chr13:37624898-38458496)x3 http://identifiers.org/clinvar/154802 ^@ GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3 http://identifiers.org/clinvar/154803 ^@ GRCh38/hg38 19q13.31(chr19:42974981-43237562)x1 http://identifiers.org/clinvar/154804 ^@ GRCh38/hg38 3p14.2(chr3:60855679-61139521)x1 http://identifiers.org/clinvar/154805 ^@ GRCh38/hg38 2p16.3(chr2:50794296-50839976)x1 http://identifiers.org/clinvar/154806 ^@ GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 http://identifiers.org/clinvar/154808 ^@ GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 http://identifiers.org/clinvar/154809 ^@ GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3 http://identifiers.org/clinvar/154810 ^@ GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 http://identifiers.org/clinvar/154811 ^@ GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1 http://identifiers.org/clinvar/154812 ^@ GRCh38/hg38 1p12(chr1:119780904-119977655)x3 http://identifiers.org/clinvar/154813 ^@ GRCh38/hg38 6q25.2(chr6:154345608-154588138)x3 http://identifiers.org/clinvar/154814 ^@ GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 http://identifiers.org/clinvar/154815 ^@ GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 http://identifiers.org/clinvar/154816 ^@ GRCh38/hg38 22q11.21(chr22:20378147-21151128)x3 http://identifiers.org/clinvar/154817 ^@ GRCh38/hg38 2p25.3(chr2:131730-2713517)x1 http://identifiers.org/clinvar/154818 ^@ GRCh38/hg38 7q34(chr7:142750220-142753076)x1 http://identifiers.org/clinvar/154819 ^@ GRCh38/hg38 7q34(chr7:142728507-142753076)x3 http://identifiers.org/clinvar/154820 ^@ GRCh38/hg38 7q34(chr7:142750432-142753000)x1 http://identifiers.org/clinvar/154821 ^@ GRCh38/hg38 6q25.2(chr6:152376315-152902773)x3 http://identifiers.org/clinvar/154822 ^@ GRCh38/hg38 12q14.3(chr12:66657083-66796174)x1 http://identifiers.org/clinvar/154823 ^@ GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 http://identifiers.org/clinvar/154824 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1 http://identifiers.org/clinvar/154825 ^@ GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3 http://identifiers.org/clinvar/154826 ^@ GRCh38/hg38 14q11.2(chr14:19749125-19938168)x1 http://identifiers.org/clinvar/154827 ^@ GRCh38/hg38 14q11.2(chr14:22021665-22398359)x3 http://identifiers.org/clinvar/154828 ^@ GRCh38/hg38 17p13.3-13.2(chr17:2922729-3436438)x3 http://identifiers.org/clinvar/154829 ^@ GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3 http://identifiers.org/clinvar/154830 ^@ GRCh38/hg38 5p12-11(chr5:45812448-46115071)x1 http://identifiers.org/clinvar/154831 ^@ GRCh38/hg38 9q21.12-21.13(chr9:71246698-71631331)x3 http://identifiers.org/clinvar/154832 ^@ GRCh38/hg38 9p23(chr9:11780398-12302670)x1 http://identifiers.org/clinvar/154833 ^@ GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1 http://identifiers.org/clinvar/154834 ^@ GRCh38/hg38 1q44(chr1:248400498-248698574)x3 http://identifiers.org/clinvar/154835 ^@ GRCh38/hg38 6q25.2(chr6:153329107-153559924)x1 http://identifiers.org/clinvar/154836 ^@ GRCh38/hg38 Xq28(chrX:153688786-153697345)x0 http://identifiers.org/clinvar/154837 ^@ GRCh38/hg38 2q21.1(chr2:129278626-129743867)x1 http://identifiers.org/clinvar/154838 ^@ GRCh38/hg38 4q28.3(chr4:134022175-134259030)x1 http://identifiers.org/clinvar/154839 ^@ GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 http://identifiers.org/clinvar/154840 ^@ GRCh38/hg38 4q31.21(chr4:144701081-145042652)x3 http://identifiers.org/clinvar/154841 ^@ GRCh38/hg38 4q34.1-34.2(chr4:175104992-175429659)x3 http://identifiers.org/clinvar/154842 ^@ GRCh38/hg38 12p11.1(chr12:33392359-34603261)x3 http://identifiers.org/clinvar/154843 ^@ GRCh38/hg38 15q11.2(chr15:24186506-24531137)x1 http://identifiers.org/clinvar/154844 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 http://identifiers.org/clinvar/154845 ^@ GRCh38/hg38 22q13.2(chr22:42366219-42565801)x1 http://identifiers.org/clinvar/154846 ^@ GRCh38/hg38 2q21.1(chr2:130527409-130594290)x1 http://identifiers.org/clinvar/154847 ^@ GRCh38/hg38 7q34(chr7:142750220-142753000)x1 http://identifiers.org/clinvar/154848 ^@ GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 http://identifiers.org/clinvar/154849 ^@ GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 http://identifiers.org/clinvar/154850 ^@ GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 http://identifiers.org/clinvar/154851 ^@ GRCh38/hg38 15q11.2(chr15:22693148-23066575)x1 http://identifiers.org/clinvar/154852 ^@ GRCh38/hg38 20p13(chr20:80106-1246891)x1 http://identifiers.org/clinvar/154853 ^@ GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3 http://identifiers.org/clinvar/154854 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147054748-148355961)x3 http://identifiers.org/clinvar/154855 ^@ GRCh38/hg38 16p13.3(chr16:6815898-7055053)x1 http://identifiers.org/clinvar/154856 ^@ GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 http://identifiers.org/clinvar/154857 ^@ GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 http://identifiers.org/clinvar/154858 ^@ GRCh38/hg38 1q44(chr1:246031233-246443488)x3 http://identifiers.org/clinvar/154859 ^@ GRCh38/hg38 1q44(chr1:246961051-247245763)x3 http://identifiers.org/clinvar/154860 ^@ GRCh38/hg38 Xp22.33(chrX:1028499-1059348)x1 http://identifiers.org/clinvar/154861 ^@ GRCh38/hg38 7q34(chr7:142749675-142753745)x1 http://identifiers.org/clinvar/154862 ^@ GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 http://identifiers.org/clinvar/154863 ^@ GRCh38/hg38 4p16.1(chr4:10817887-11009701)x3 http://identifiers.org/clinvar/154864 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/154865 ^@ GRCh38/hg38 7q34(chr7:142750885-142753000)x1 http://identifiers.org/clinvar/154866 ^@ GRCh38/hg38 19q11(chr19:27362301-27992620)x3 http://identifiers.org/clinvar/154867 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 http://identifiers.org/clinvar/154868 ^@ GRCh38/hg38 Xp22.12(chrX:19346151-19351270)x3 http://identifiers.org/clinvar/154869 ^@ GRCh38/hg38 8q11.21(chr8:50409781-50524517)x1 http://identifiers.org/clinvar/154870 ^@ GRCh38/hg38 7q11.22(chr7:69902279-69968090)x1 http://identifiers.org/clinvar/154871 ^@ GRCh38/hg38 2p25.2(chr2:5072355-5684681)x3 http://identifiers.org/clinvar/154872 ^@ GRCh38/hg38 5p14.3(chr5:20918273-21454847)x1 http://identifiers.org/clinvar/154873 ^@ GRCh38/hg38 4q34.3(chr4:180608484-181096608)x1 http://identifiers.org/clinvar/154874 ^@ GRCh38/hg38 10q26.3(chr10:133510330-133532350)x1 http://identifiers.org/clinvar/154875 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106777273)x3 http://identifiers.org/clinvar/154876 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106777273)x1 http://identifiers.org/clinvar/154877 ^@ GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1 http://identifiers.org/clinvar/154878 ^@ GRCh38/hg38 14q11.2(chr14:21830995-22324997)x3 http://identifiers.org/clinvar/154879 ^@ GRCh38/hg38 6p25.3(chr6:253107-293497)x3 http://identifiers.org/clinvar/154880 ^@ GRCh38/hg38 2q22.1(chr2:136696774-137028271)x1 http://identifiers.org/clinvar/154881 ^@ GRCh38/hg38 7q11.22(chr7:70055626-70319823)x1 http://identifiers.org/clinvar/154882 ^@ GRCh38/hg38 19q13.41(chr19:51785545-52075049)x3 http://identifiers.org/clinvar/154883 ^@ GRCh38/hg38 2p16.3(chr2:50839917-50873340)x1 http://identifiers.org/clinvar/154886 ^@ GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 http://identifiers.org/clinvar/154887 ^@ GRCh38/hg38 Yq11.223(chrY:21568533-22490845)x0 http://identifiers.org/clinvar/154888 ^@ GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 http://identifiers.org/clinvar/154890 ^@ GRCh38/hg38 3p26.3(chr3:485613-1091944)x3 http://identifiers.org/clinvar/154891 ^@ GRCh38/hg38 10q26.3(chr10:133482243-133620609)x3 http://identifiers.org/clinvar/154892 ^@ GRCh38/hg38 20q13.32(chr20:58888333-58893190)x1 http://identifiers.org/clinvar/154893 ^@ GRCh38/hg38 Xq22.2-22.3(chrX:104164387-105103297)x2 http://identifiers.org/clinvar/154894 ^@ GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3 http://identifiers.org/clinvar/154895 ^@ GRCh38/hg38 15q11.2(chr15:25087469-25088727)x1 http://identifiers.org/clinvar/154896 ^@ GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 http://identifiers.org/clinvar/154897 ^@ GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 http://identifiers.org/clinvar/154898 ^@ GRCh38/hg38 7q22.1(chr7:102514724-102643741)x3 http://identifiers.org/clinvar/154899 ^@ GRCh38/hg38 8p23.1(chr8:11732785-11814529)x3 http://identifiers.org/clinvar/154900 ^@ GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 http://identifiers.org/clinvar/154901 ^@ GRCh38/hg38 8p23.1(chr8:9949070-10171972)x1 http://identifiers.org/clinvar/154902 ^@ GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1 http://identifiers.org/clinvar/154903 ^@ GRCh38/hg38 22q11.21(chr22:19329591-19332293)x3 http://identifiers.org/clinvar/154904 ^@ GRCh38/hg38 Xq27.2(chrX:141258990-141650260)x2 http://identifiers.org/clinvar/154905 ^@ GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3 http://identifiers.org/clinvar/154906 ^@ GRCh38/hg38 8p23.1(chr8:7300731-7948701)x1 http://identifiers.org/clinvar/154907 ^@ GRCh38/hg38 15q11.2(chr15:23124377-23174549)x3 http://identifiers.org/clinvar/154908 ^@ GRCh38/hg38 7p22.3(chr7:24385-65604)x3 http://identifiers.org/clinvar/154909 ^@ GRCh38/hg38 16q22.1(chr16:70118880-70203727)x3 http://identifiers.org/clinvar/154910 ^@ GRCh38/hg38 1p21.1(chr1:103618352-103668450)x1 http://identifiers.org/clinvar/154911 ^@ GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 http://identifiers.org/clinvar/154913 ^@ GRCh38/hg38 10q25.3-26.11(chr10:117205385-118509587)x3 http://identifiers.org/clinvar/154915 ^@ GRCh38/hg38 4q13.3(chr4:71367496-72953379)x1 http://identifiers.org/clinvar/154916 ^@ GRCh38/hg38 6q26(chr6:162916759-163185088)x1 http://identifiers.org/clinvar/154919 ^@ GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 http://identifiers.org/clinvar/154920 ^@ GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3 http://identifiers.org/clinvar/154922 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:141059462-141561711)x0 http://identifiers.org/clinvar/154923 ^@ GRCh38/hg38 13q31.3-32.1(chr13:93869706-94449189)x3 http://identifiers.org/clinvar/154924 ^@ GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3 http://identifiers.org/clinvar/154925 ^@ GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1 http://identifiers.org/clinvar/154926 ^@ GRCh38/hg38 3p26.3(chr3:199392-338596)x3 http://identifiers.org/clinvar/154927 ^@ GRCh38/hg38 Xp22.33(chrX:2782037-3306245)x2 http://identifiers.org/clinvar/154928 ^@ GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 http://identifiers.org/clinvar/154929 ^@ GRCh38/hg38 13q31.3(chr13:93707800-93770810)x1 http://identifiers.org/clinvar/154930 ^@ GRCh38/hg38 15q11.2(chr15:25073275-25092331)x1 http://identifiers.org/clinvar/154931 ^@ GRCh38/hg38 14q11.2(chr14:21973759-22324997)x3 http://identifiers.org/clinvar/154932 ^@ GRCh38/hg38 2p11.2(chr2:87472053-87655419)x3 http://identifiers.org/clinvar/154933 ^@ GRCh38/hg38 16p13.3(chr16:3666023-3759065)x3 http://identifiers.org/clinvar/154934 ^@ GRCh38/hg38 Xq23(chrX:112336424-112725076)x3 http://identifiers.org/clinvar/154935 ^@ GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 http://identifiers.org/clinvar/154936 ^@ GRCh38/hg38 Xq28(chrX:155532532-156003229)x0 http://identifiers.org/clinvar/154937 ^@ GRCh38/hg38 Xq13.2-13.3(chrX:74326571-75201094)x2 http://identifiers.org/clinvar/154938 ^@ GRCh38/hg38 2q23.1(chr2:147986311-148198151)x1 http://identifiers.org/clinvar/154939 ^@ GRCh38/hg38 17q12(chr17:37440306-37566809)x1 http://identifiers.org/clinvar/154940 ^@ GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1 http://identifiers.org/clinvar/154942 ^@ GRCh38/hg38 1p21.1(chr1:103462283-103612668)x3 http://identifiers.org/clinvar/154944 ^@ GRCh38/hg38 Xp22.33(chrX:642375-1132757)x3 http://identifiers.org/clinvar/154945 ^@ GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 http://identifiers.org/clinvar/154946 ^@ GRCh38/hg38 7q11.21(chr7:62506780-63525331)x3 http://identifiers.org/clinvar/154947 ^@ GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3 http://identifiers.org/clinvar/154948 ^@ GRCh38/hg38 16p13.3(chr16:6723517-7136821)x1 http://identifiers.org/clinvar/154949 ^@ GRCh38/hg38 2p16.3(chr2:48929614-50839499)x1 http://identifiers.org/clinvar/154950 ^@ GRCh38/hg38 2p12(chr2:79252886-81305516)x1 http://identifiers.org/clinvar/154951 ^@ GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 http://identifiers.org/clinvar/154952 ^@ GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 http://identifiers.org/clinvar/154955 ^@ GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 http://identifiers.org/clinvar/154956 ^@ GRCh38/hg38 17p13.3(chr17:1375174-1405502)x1 http://identifiers.org/clinvar/154957 ^@ GRCh38/hg38 10q24.32(chr10:101370487-101583324)x3 http://identifiers.org/clinvar/154958 ^@ GRCh38/hg38 16p13.11(chr16:15398450-16268850)x1 http://identifiers.org/clinvar/154959 ^@ GRCh38/hg38 Xp22.31(chrX:6536327-8147112)x0 http://identifiers.org/clinvar/154960 ^@ GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 http://identifiers.org/clinvar/154961 ^@ GRCh38/hg38 7p22.3(chr7:214514-229824)x1 http://identifiers.org/clinvar/154962 ^@ GRCh38/hg38 7q35(chr7:146748837-146984974)x1 http://identifiers.org/clinvar/154963 ^@ GRCh38/hg38 10q26.3(chr10:133524652-133540830)x3 http://identifiers.org/clinvar/154964 ^@ GRCh38/hg38 2q14.2(chr2:120621488-121102933)x3 http://identifiers.org/clinvar/154965 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42850110-43080347)x1 http://identifiers.org/clinvar/154966 ^@ GRCh38/hg38 14q21.1(chr14:37583142-38369347)x3 http://identifiers.org/clinvar/154967 ^@ GRCh38/hg38 6q26(chr6:162232971-162629368)x3 http://identifiers.org/clinvar/154968 ^@ GRCh38/hg38 6p21.33(chr6:31996044-32041234)x3 http://identifiers.org/clinvar/154969 ^@ GRCh38/hg38 10q24.32(chr10:101528554-101556158)x3 http://identifiers.org/clinvar/154970 ^@ GRCh38/hg38 16p13.3(chr16:7288229-7355378)x1 http://identifiers.org/clinvar/154971 ^@ GRCh38/hg38 4q31.22(chr4:146344284-146578501)x3 http://identifiers.org/clinvar/154972 ^@ GRCh38/hg38 17q25.3(chr17:82959804-83011545)x3 http://identifiers.org/clinvar/154973 ^@ GRCh38/hg38 15q11.2(chr15:22612562-23066575)x1 http://identifiers.org/clinvar/154974 ^@ GRCh38/hg38 10q26.3(chr10:133528676-133620609)x3 http://identifiers.org/clinvar/154975 ^@ GRCh38/hg38 Xq21.1(chrX:78031438-79093211)x3 http://identifiers.org/clinvar/154976 ^@ GRCh38/hg38 9q22.31(chr9:92094765-92337566)x3 http://identifiers.org/clinvar/154977 ^@ GRCh38/hg38 15q26.2(chr15:96329890-96331506)x3 http://identifiers.org/clinvar/154978 ^@ GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 http://identifiers.org/clinvar/154979 ^@ GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1 http://identifiers.org/clinvar/154980 ^@ GRCh38/hg38 19q11-12(chr19:27362301-28373332)x3 http://identifiers.org/clinvar/154981 ^@ GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3 http://identifiers.org/clinvar/154982 ^@ GRCh38/hg38 6p25.3(chr6:265806-289298)x3 http://identifiers.org/clinvar/154983 ^@ GRCh38/hg38 Xq28(chrX:154085063-154140759)x3 http://identifiers.org/clinvar/154984 ^@ GRCh38/hg38 8p23.1(chr8:8764148-9456289)x3 http://identifiers.org/clinvar/154985 ^@ GRCh38/hg38 9q22.32(chr9:95516880-95521983)x3 http://identifiers.org/clinvar/154986 ^@ GRCh38/hg38 3q29(chr3:196013486-197597912)x1 http://identifiers.org/clinvar/154987 ^@ GRCh38/hg38 10q25.1(chr10:108665815-109360018)x1 http://identifiers.org/clinvar/154988 ^@ GRCh38/hg38 Xq25-26.1(chrX:129192846-130323929)x2 http://identifiers.org/clinvar/154989 ^@ GRCh38/hg38 8p23.1(chr8:11948252-12546557)x3 http://identifiers.org/clinvar/154990 ^@ GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 http://identifiers.org/clinvar/154991 ^@ GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3 http://identifiers.org/clinvar/154993 ^@ GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 http://identifiers.org/clinvar/154994 ^@ GRCh38/hg38 6p25.3(chr6:1365202-1627578)x3 http://identifiers.org/clinvar/154995 ^@ GRCh38/hg38 14q31.1(chr14:78921838-79108374)x1 http://identifiers.org/clinvar/154996 ^@ GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 http://identifiers.org/clinvar/154997 ^@ GRCh38/hg38 13q21.31(chr13:63424022-63770244)x1 http://identifiers.org/clinvar/154998 ^@ GRCh38/hg38 5q11.2(chr5:59269465-59518548)x1 http://identifiers.org/clinvar/154999 ^@ GRCh38/hg38 15q11.2(chr15:22726999-23066575)x3 http://identifiers.org/clinvar/155000 ^@ GRCh38/hg38 6q13(chr6:74524712-74931724)x3 http://identifiers.org/clinvar/155001 ^@ GRCh38/hg38 Xp22.31(chrX:8451420-8998206)x3 http://identifiers.org/clinvar/155003 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1 http://identifiers.org/clinvar/155005 ^@ GRCh38/hg38 9p23(chr9:12941194-13146853)x1 http://identifiers.org/clinvar/155006 ^@ GRCh38/hg38 14q23.3(chr14:65909873-66374685)x3 http://identifiers.org/clinvar/155007 ^@ GRCh38/hg38 15q26.3(chr15:101045648-101457911)x3 http://identifiers.org/clinvar/155008 ^@ GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 http://identifiers.org/clinvar/155009 ^@ GRCh38/hg38 15q11.2(chr15:24259331-24495063)x1 http://identifiers.org/clinvar/155010 ^@ GRCh38/hg38 7p11.2(chr7:54585522-55139482)x4 http://identifiers.org/clinvar/155011 ^@ GRCh38/hg38 2p11.2(chr2:87472053-87705910)x3 http://identifiers.org/clinvar/155012 ^@ GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 http://identifiers.org/clinvar/155013 ^@ GRCh38/hg38 6q12(chr6:65104371-65335138)x1 http://identifiers.org/clinvar/155014 ^@ GRCh38/hg38 17p13.3(chr17:1311837-1368660)x3 http://identifiers.org/clinvar/155015 ^@ GRCh38/hg38 12q24.23(chr12:118428527-119012795)x3 http://identifiers.org/clinvar/155016 ^@ GRCh38/hg38 7q35(chr7:147033380-147684165)x3 http://identifiers.org/clinvar/155017 ^@ GRCh38/hg38 Yq11.223(chrY:20353539-21003210)x2 http://identifiers.org/clinvar/155018 ^@ GRCh38/hg38 Xq28(chrX:154772625-154971051)x3 http://identifiers.org/clinvar/155019 ^@ GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3 http://identifiers.org/clinvar/155020 ^@ GRCh38/hg38 1q44(chr1:245542908-246544740)x3 http://identifiers.org/clinvar/155021 ^@ GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 http://identifiers.org/clinvar/155022 ^@ GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 http://identifiers.org/clinvar/155023 ^@ GRCh38/hg38 8p23.2(chr8:3934205-4230645)x1 http://identifiers.org/clinvar/155024 ^@ GRCh38/hg38 13q12.11(chr13:20344898-21521293)x1 http://identifiers.org/clinvar/155025 ^@ GRCh38/hg38 5q11.1(chr5:50288355-50822420)x3 http://identifiers.org/clinvar/155026 ^@ GRCh38/hg38 Xq13.1(chrX:69991690-70536572)x2 http://identifiers.org/clinvar/155027 ^@ GRCh38/hg38 13q31.3(chr13:91283077-91394459)x1 http://identifiers.org/clinvar/155028 ^@ GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3 http://identifiers.org/clinvar/155029 ^@ GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1 http://identifiers.org/clinvar/155030 ^@ GRCh38/hg38 Xp22.31(chrX:6531711-8099101)x0 http://identifiers.org/clinvar/155031 ^@ GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1 http://identifiers.org/clinvar/155032 ^@ GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 http://identifiers.org/clinvar/155033 ^@ GRCh38/hg38 6p25.1(chr6:6163258-6766313)x3 http://identifiers.org/clinvar/155034 ^@ GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3 http://identifiers.org/clinvar/155035 ^@ GRCh38/hg38 13q34(chr13:110857896-114342258)x1 http://identifiers.org/clinvar/155036 ^@ GRCh38/hg38 9p21.1(chr9:30321410-30619013)x1 http://identifiers.org/clinvar/155037 ^@ GRCh38/hg38 20p12.1(chr20:15435266-15557647)x1 http://identifiers.org/clinvar/155038 ^@ GRCh38/hg38 9q21.13-21.2(chr9:76235414-76751538)x3 http://identifiers.org/clinvar/155039 ^@ GRCh38/hg38 Xq21.1-21.2(chrX:85089622-85949735)x2 http://identifiers.org/clinvar/155040 ^@ GRCh38/hg38 6q21(chr6:105922825-106683920)x3 http://identifiers.org/clinvar/155041 ^@ GRCh38/hg38 18p11.31(chr18:3419283-3420817)x1 http://identifiers.org/clinvar/155042 ^@ GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1 http://identifiers.org/clinvar/155043 ^@ GRCh38/hg38 3q26.32(chr3:177511733-178172084)x3 http://identifiers.org/clinvar/155044 ^@ GRCh38/hg38 Xp11.3-11.23(chrX:47437831-47845763)x2 http://identifiers.org/clinvar/155045 ^@ GRCh38/hg38 4p16.3(chr4:3407550-3942201)x1 http://identifiers.org/clinvar/155046 ^@ GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1 http://identifiers.org/clinvar/155047 ^@ GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 http://identifiers.org/clinvar/155049 ^@ GRCh38/hg38 3q25.33-26.1(chr3:160951779-161441991)x1 http://identifiers.org/clinvar/155050 ^@ GRCh38/hg38 4q22.1(chr4:90049325-90832546)x1 http://identifiers.org/clinvar/155051 ^@ GRCh38/hg38 7p11.2(chr7:57193415-57821414)x3 http://identifiers.org/clinvar/155052 ^@ GRCh38/hg38 8p23.3(chr8:989376-1681152)x3 http://identifiers.org/clinvar/155053 ^@ GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 http://identifiers.org/clinvar/155054 ^@ GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3 http://identifiers.org/clinvar/155055 ^@ GRCh38/hg38 6q11.1(chr6:61468685-62203076)x3 http://identifiers.org/clinvar/155056 ^@ GRCh38/hg38 9p24.1(chr9:6558442-6672439)x1 http://identifiers.org/clinvar/155057 ^@ GRCh38/hg38 22q13.33(chr22:50682932-50745412)x1 http://identifiers.org/clinvar/155058 ^@ GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1 http://identifiers.org/clinvar/155059 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 http://identifiers.org/clinvar/155060 ^@ GRCh38/hg38 2q33.1(chr2:199374155-199381595)x1 http://identifiers.org/clinvar/155061 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 http://identifiers.org/clinvar/155062 ^@ GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1 http://identifiers.org/clinvar/155063 ^@ GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 http://identifiers.org/clinvar/155064 ^@ GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 http://identifiers.org/clinvar/155065 ^@ GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 http://identifiers.org/clinvar/155066 ^@ GRCh38/hg38 4q22.2(chr4:92833132-93124343)x1 http://identifiers.org/clinvar/155067 ^@ GRCh38/hg38 7q21.13(chr7:88517003-90256109)x3 http://identifiers.org/clinvar/155068 ^@ GRCh38/hg38 12q24.21(chr12:116103617-116165654)x1 http://identifiers.org/clinvar/155069 ^@ GRCh38/hg38 8p12(chr8:35769432-36312173)x3 http://identifiers.org/clinvar/155070 ^@ GRCh38/hg38 7p11.2(chr7:57193415-57846998)x3 http://identifiers.org/clinvar/155071 ^@ GRCh38/hg38 6q21(chr6:112289521-113238570)x3 http://identifiers.org/clinvar/155072 ^@ GRCh38/hg38 3p26.3(chr3:182931-937659)x3 http://identifiers.org/clinvar/155073 ^@ GRCh38/hg38 16p13.2-13.13(chr16:9992260-10445959)x3 http://identifiers.org/clinvar/155074 ^@ GRCh38/hg38 13q13.1-13.2(chr13:32709960-33487709)x3 http://identifiers.org/clinvar/155076 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 http://identifiers.org/clinvar/155077 ^@ GRCh38/hg38 1q31.3(chr1:196301629-196775650)x1 http://identifiers.org/clinvar/155078 ^@ GRCh38/hg38 4p16.1(chr4:9813097-10714839)x3 http://identifiers.org/clinvar/155079 ^@ GRCh38/hg38 3q12.2-12.3(chr3:100828503-101465000)x1 http://identifiers.org/clinvar/155080 ^@ GRCh38/hg38 9q21.33(chr9:85169032-85669572)x3 http://identifiers.org/clinvar/155081 ^@ GRCh38/hg38 2p16.3(chr2:50734870-51033529)x1 http://identifiers.org/clinvar/155082 ^@ GRCh38/hg38 Xp11.4(chrX:41736613-41807412)x2 http://identifiers.org/clinvar/155083 ^@ GRCh38/hg38 14q21.1(chr14:38828029-40664503)x1 http://identifiers.org/clinvar/155084 ^@ GRCh38/hg38 2p16.3(chr2:50839440-51033529)x1 http://identifiers.org/clinvar/155086 ^@ GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1 http://identifiers.org/clinvar/155087 ^@ GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 http://identifiers.org/clinvar/155088 ^@ GRCh38/hg38 7q21.13(chr7:88517003-90255387)x3 http://identifiers.org/clinvar/155089 ^@ GRCh38/hg38 Yp11.2(chrY:5078270-5761856)x2 http://identifiers.org/clinvar/155090 ^@ GRCh38/hg38 Xq12(chrX:67033673-67862682)x2 http://identifiers.org/clinvar/155091 ^@ GRCh38/hg38 3p26.3(chr3:1175928-2130831)x3 http://identifiers.org/clinvar/155092 ^@ GRCh38/hg38 10p12.31(chr10:20343616-20638791)x1 http://identifiers.org/clinvar/155093 ^@ GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) http://identifiers.org/clinvar/155094 ^@ GRCh38/hg38 5p15.33(chr5:1285489-1400393)x3 http://identifiers.org/clinvar/155095 ^@ GRCh38/hg38 13q31.3(chr13:91282882-91394459)x1 http://identifiers.org/clinvar/155096 ^@ GRCh38/hg38 Xp22.32-22.31(chrX:6064555-7331311)x3 http://identifiers.org/clinvar/155097 ^@ GRCh38/hg38 7q31.31(chr7:120795527-120842557)x1 http://identifiers.org/clinvar/155098 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3 http://identifiers.org/clinvar/155099 ^@ GRCh38/hg38 15q21.1(chr15:45688142-45911031)x1 http://identifiers.org/clinvar/155100 ^@ GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3 http://identifiers.org/clinvar/155101 ^@ GRCh38/hg38 7q36.3(chr7:159049212-159335866)x1 http://identifiers.org/clinvar/155102 ^@ GRCh38/hg38 6q16.2-16.3(chr6:99831123-100194965)x1 http://identifiers.org/clinvar/155103 ^@ GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x4 http://identifiers.org/clinvar/155104 ^@ GRCh38/hg38 Xp22.31(chrX:6535272-8147112)x1 http://identifiers.org/clinvar/155105 ^@ GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 http://identifiers.org/clinvar/155106 ^@ GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 http://identifiers.org/clinvar/155107 ^@ GRCh38/hg38 16p13.3(chr16:3850966-3884581)x1 http://identifiers.org/clinvar/155108 ^@ GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 http://identifiers.org/clinvar/155109 ^@ GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1 http://identifiers.org/clinvar/155110 ^@ GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 http://identifiers.org/clinvar/155111 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1 http://identifiers.org/clinvar/155112 ^@ GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1 http://identifiers.org/clinvar/155113 ^@ GRCh38/hg38 6p24.3-24.2(chr6:10542021-10810835)x1 http://identifiers.org/clinvar/155114 ^@ GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 http://identifiers.org/clinvar/155115 ^@ GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 http://identifiers.org/clinvar/155116 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 http://identifiers.org/clinvar/155117 ^@ GRCh38/hg38 Xp22.2(chrX:12994517-13957317)x3 http://identifiers.org/clinvar/155118 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 http://identifiers.org/clinvar/155119 ^@ GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 http://identifiers.org/clinvar/155120 ^@ GRCh38/hg38 4q22.2(chr4:92948705-93234197)x1 http://identifiers.org/clinvar/155121 ^@ GRCh38/hg38 7q35(chr7:147001345-147057761)x1 http://identifiers.org/clinvar/155122 ^@ GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3 http://identifiers.org/clinvar/155123 ^@ GRCh38/hg38 6p25.3(chr6:1768205-2246547)x1 http://identifiers.org/clinvar/155124 ^@ GRCh38/hg38 16p13.3(chr16:6922247-7055053)x1 http://identifiers.org/clinvar/155125 ^@ GRCh38/hg38 4q35.2(chr4:188481584-188993073)x3 http://identifiers.org/clinvar/155126 ^@ GRCh38/hg38 Xp11.21-11.1(chrX:57929969-58517661)x3 http://identifiers.org/clinvar/155127 ^@ GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 http://identifiers.org/clinvar/155128 ^@ GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 http://identifiers.org/clinvar/155129 ^@ GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1 http://identifiers.org/clinvar/155130 ^@ GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 http://identifiers.org/clinvar/155131 ^@ GRCh38/hg38 4q22.2-22.3(chr4:93368807-94200572)x1 http://identifiers.org/clinvar/155132 ^@ GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1 http://identifiers.org/clinvar/155133 ^@ GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3 http://identifiers.org/clinvar/155134 ^@ GRCh38/hg38 7q21.13(chr7:88724612-90261496)x3 http://identifiers.org/clinvar/155135 ^@ GRCh38/hg38 17q24.1(chr17:65722873-65967070)x1 http://identifiers.org/clinvar/155136 ^@ GRCh38/hg38 22q13.33(chr22:50560890-50739829)x3 http://identifiers.org/clinvar/155137 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1 http://identifiers.org/clinvar/155138 ^@ GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 http://identifiers.org/clinvar/155139 ^@ GRCh38/hg38 1p12(chr1:118933857-119977655)x1 http://identifiers.org/clinvar/155140 ^@ GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 http://identifiers.org/clinvar/155141 ^@ GRCh38/hg38 7p21.3(chr7:12637265-13199926)x1 http://identifiers.org/clinvar/155142 ^@ GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3 http://identifiers.org/clinvar/155143 ^@ GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 http://identifiers.org/clinvar/155144 ^@ GRCh38/hg38 8q11.21-11.23(chr8:50946098-51846014)x3 http://identifiers.org/clinvar/155145 ^@ GRCh38/hg38 6q11.1(chr6:61468685-62190598)x3 http://identifiers.org/clinvar/155146 ^@ GRCh38/hg38 9p24.3(chr9:254654-399596)x4 http://identifiers.org/clinvar/155147 ^@ GRCh38/hg38 13q21.31(chr13:61877000-63075567)x1 http://identifiers.org/clinvar/155148 ^@ GRCh38/hg38 16p13.3(chr16:7003812-7188664)x1 http://identifiers.org/clinvar/155149 ^@ GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 http://identifiers.org/clinvar/155150 ^@ GRCh38/hg38 4p16.3(chr4:36424-1562150)x1 http://identifiers.org/clinvar/155151 ^@ GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 http://identifiers.org/clinvar/155152 ^@ GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 http://identifiers.org/clinvar/155153 ^@ GRCh38/hg38 11q24.1(chr11:123187564-123800140)x3 http://identifiers.org/clinvar/155154 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28744504-30073921)x3 http://identifiers.org/clinvar/155155 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146065803)x1 http://identifiers.org/clinvar/155156 ^@ GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 http://identifiers.org/clinvar/155157 ^@ GRCh38/hg38 1p36.33(chr1:914086-1613769)x1 http://identifiers.org/clinvar/155158 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 http://identifiers.org/clinvar/155159 ^@ GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 http://identifiers.org/clinvar/155160 ^@ GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 http://identifiers.org/clinvar/155161 ^@ GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 http://identifiers.org/clinvar/155162 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 http://identifiers.org/clinvar/155163 ^@ GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1 http://identifiers.org/clinvar/155164 ^@ GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3 http://identifiers.org/clinvar/155165 ^@ GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 http://identifiers.org/clinvar/155166 ^@ GRCh38/hg38 6q23.1(chr6:130040763-130549075)x3 http://identifiers.org/clinvar/155167 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 http://identifiers.org/clinvar/155168 ^@ GRCh38/hg38 Xp22.31(chrX:7020870-7930853)x1 http://identifiers.org/clinvar/155169 ^@ GRCh38/hg38 14q23.3(chr14:66644735-66997452)x1 http://identifiers.org/clinvar/155170 ^@ GRCh38/hg38 3p26.3(chr3:1794929-2728825)x3 http://identifiers.org/clinvar/155171 ^@ GRCh38/hg38 19p12(chr19:20577633-21096146)x3 http://identifiers.org/clinvar/155172 ^@ GRCh38/hg38 Xp22.33(chrX:1285856-1912497)x3 http://identifiers.org/clinvar/155173 ^@ GRCh38/hg38 7q35(chr7:143733925-144255312)x3 http://identifiers.org/clinvar/155174 ^@ GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1 http://identifiers.org/clinvar/155175 ^@ GRCh38/hg38 3p26.3(chr3:1798595-2731479)x3 http://identifiers.org/clinvar/155176 ^@ GRCh38/hg38 6q13(chr6:70026943-70923391)x3 http://identifiers.org/clinvar/155177 ^@ GRCh38/hg38 2q22.3(chr2:144757557-145086924)x1 http://identifiers.org/clinvar/155178 ^@ GRCh38/hg38 8p23.3(chr8:226452-1670285)x1 http://identifiers.org/clinvar/155179 ^@ GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3 http://identifiers.org/clinvar/155180 ^@ GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 http://identifiers.org/clinvar/155181 ^@ GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 http://identifiers.org/clinvar/155182 ^@ GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 http://identifiers.org/clinvar/155183 ^@ GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1 http://identifiers.org/clinvar/155184 ^@ GRCh38/hg38 16p13.3(chr16:165236-182113)x1 http://identifiers.org/clinvar/155185 ^@ GRCh38/hg38 8p23.2(chr8:3779013-4051517)x1 http://identifiers.org/clinvar/155186 ^@ GRCh38/hg38 4q32.2(chr4:161650057-161905408)x1 http://identifiers.org/clinvar/155187 ^@ GRCh38/hg38 21q21.3(chr21:26244753-28273836)x1 http://identifiers.org/clinvar/155188 ^@ GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3 http://identifiers.org/clinvar/155189 ^@ GRCh38/hg38 Xp11.22(chrX:53899183-53976521)x2 http://identifiers.org/clinvar/155190 ^@ GRCh38/hg38 6q21(chr6:105833853-106582592)x3 http://identifiers.org/clinvar/155191 ^@ GRCh38/hg38 16p12.1(chr16:26505797-27234282)x3 http://identifiers.org/clinvar/155192 ^@ GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 http://identifiers.org/clinvar/155193 ^@ GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1 http://identifiers.org/clinvar/155194 ^@ GRCh38/hg38 10q24.31-24.32(chr10:101177305-101719109)x3 http://identifiers.org/clinvar/155195 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1 http://identifiers.org/clinvar/155196 ^@ GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3 http://identifiers.org/clinvar/155197 ^@ GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3 http://identifiers.org/clinvar/155198 ^@ GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 http://identifiers.org/clinvar/155199 ^@ GRCh38/hg38 Xq24(chrX:120255501-120553935)x2 http://identifiers.org/clinvar/155200 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 http://identifiers.org/clinvar/155201 ^@ GRCh38/hg38 11q13.4(chr11:74648822-74907890)x1 http://identifiers.org/clinvar/155202 ^@ GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1 http://identifiers.org/clinvar/155203 ^@ GRCh38/hg38 Xq25(chrX:127879831-128473208)x2 http://identifiers.org/clinvar/155204 ^@ GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 http://identifiers.org/clinvar/155205 ^@ GRCh38/hg38 Yq11.21-11.221(chrY:12390235-12665442)x0 http://identifiers.org/clinvar/155206 ^@ GRCh38/hg38 17p13.2(chr17:4378892-4687204)x1 http://identifiers.org/clinvar/155207 ^@ GRCh38/hg38 Xq28(chrX:154030850-154034917)x1 http://identifiers.org/clinvar/155208 ^@ GRCh38/hg38 12q14.1(chr12:58802649-59703763)x3 http://identifiers.org/clinvar/155209 ^@ GRCh38/hg38 7q31.32-31.33(chr7:123303689-124164709)x3 http://identifiers.org/clinvar/155210 ^@ GRCh38/hg38 6q11.1(chr6:61468685-62203032)x3 http://identifiers.org/clinvar/155211 ^@ GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1 http://identifiers.org/clinvar/155212 ^@ GRCh38/hg38 7q21.13(chr7:89018126-89457238)x1 http://identifiers.org/clinvar/155213 ^@ GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3 http://identifiers.org/clinvar/155214 ^@ GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1 http://identifiers.org/clinvar/155215 ^@ GRCh38/hg38 15q11.2(chr15:22590297-23102647)x1 http://identifiers.org/clinvar/155216 ^@ GRCh38/hg38 16p12.2(chr16:21935201-22430686)x1 http://identifiers.org/clinvar/155217 ^@ GRCh38/hg38 3p26.3(chr3:2232369-2443380)x3 http://identifiers.org/clinvar/155218 ^@ GRCh38/hg38 3p26.3(chr3:816864-1407583)x1 http://identifiers.org/clinvar/155219 ^@ GRCh38/hg38 16p13.2-13.13(chr16:9992260-10427239)x3 http://identifiers.org/clinvar/155220 ^@ GRCh38/hg38 4p16.1(chr4:9500007-10147031)x3 http://identifiers.org/clinvar/155221 ^@ GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3 http://identifiers.org/clinvar/155222 ^@ GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3 http://identifiers.org/clinvar/155223 ^@ GRCh38/hg38 11q25(chr11:133169303-135068576)x1 http://identifiers.org/clinvar/155224 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 http://identifiers.org/clinvar/155225 ^@ GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 http://identifiers.org/clinvar/155226 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 http://identifiers.org/clinvar/155227 ^@ GRCh38/hg38 Xp22.11(chrX:22824476-23142353)x0 http://identifiers.org/clinvar/155228 ^@ GRCh38/hg38 11q14.1(chr11:83066124-84475390)x3 http://identifiers.org/clinvar/155229 ^@ GRCh38/hg38 Xp22.33(chrX:1063704-1598200)x3 http://identifiers.org/clinvar/155230 ^@ GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1 http://identifiers.org/clinvar/155231 ^@ GRCh38/hg38 9p21.1(chr9:30071864-31270467)x1 http://identifiers.org/clinvar/155232 ^@ GRCh38/hg38 17p12(chr17:14184470-15586786)x1 http://identifiers.org/clinvar/155233 ^@ GRCh38/hg38 16p11.2(chr16:28677764-29039870)x1 http://identifiers.org/clinvar/155234 ^@ GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 http://identifiers.org/clinvar/155235 ^@ GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2 http://identifiers.org/clinvar/155236 ^@ GRCh38/hg38 17p12(chr17:14184616-15597331)x3 http://identifiers.org/clinvar/155237 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/155238 ^@ GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 http://identifiers.org/clinvar/155239 ^@ GRCh38/hg38 2q37.1(chr2:233890063-234101264)x1 http://identifiers.org/clinvar/155240 ^@ GRCh38/hg38 1q44(chr1:246184097-246413863)x1 http://identifiers.org/clinvar/155241 ^@ GRCh38/hg38 3q13.33(chr3:121103990-121395004)x1 http://identifiers.org/clinvar/155242 ^@ GRCh38/hg38 3q24-25.1(chr3:149137353-149419900)x1 http://identifiers.org/clinvar/155243 ^@ GRCh38/hg38 2p16.1-15(chr2:60971634-61092510)x0 http://identifiers.org/clinvar/155244 ^@ GRCh38/hg38 10q23.31(chr10:89535104-89540489)x3 http://identifiers.org/clinvar/155245 ^@ GRCh38/hg38 18q12.2-12.3(chr18:36972277-42228852)x3 http://identifiers.org/clinvar/155246 ^@ GRCh38/hg38 Xp21.1(chrX:32928883-33780762)x3 http://identifiers.org/clinvar/155247 ^@ GRCh38/hg38 Xq25(chrX:124500665-125015570)x2 http://identifiers.org/clinvar/155248 ^@ GRCh38/hg38 12p12.1(chr12:24552217-25193743)x3 http://identifiers.org/clinvar/155249 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48271979-49315577)x3 http://identifiers.org/clinvar/155250 ^@ GRCh38/hg38 1p31.1(chr1:77264562-77493002)x1 http://identifiers.org/clinvar/155251 ^@ GRCh38/hg38 7p21.3(chr7:8162035-9921241)x3 http://identifiers.org/clinvar/155253 ^@ GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3 http://identifiers.org/clinvar/155254 ^@ GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1 http://identifiers.org/clinvar/155255 ^@ GRCh38/hg38 19q13.2(chr19:41866470-41874552)x3 http://identifiers.org/clinvar/155257 ^@ GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 http://identifiers.org/clinvar/155258 ^@ GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 http://identifiers.org/clinvar/155259 ^@ GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1 http://identifiers.org/clinvar/155260 ^@ GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1 http://identifiers.org/clinvar/155261 ^@ GRCh38/hg38 18p11.32(chr18:287678-901105)x3 http://identifiers.org/clinvar/155262 ^@ GRCh38/hg38 10p15.3(chr10:232912-578344)x4 http://identifiers.org/clinvar/155263 ^@ GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 http://identifiers.org/clinvar/155264 ^@ GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 http://identifiers.org/clinvar/155265 ^@ GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 http://identifiers.org/clinvar/155266 ^@ GRCh38/hg38 4p16.3(chr4:1330963-1370226)x1 http://identifiers.org/clinvar/155267 ^@ GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 http://identifiers.org/clinvar/155268 ^@ GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 http://identifiers.org/clinvar/155269 ^@ GRCh38/hg38 16p13.3(chr16:6244130-6332434)x3 http://identifiers.org/clinvar/155270 ^@ GRCh38/hg38 15q26.3(chr15:99710106-100472153)x3 http://identifiers.org/clinvar/155271 ^@ GRCh38/hg38 2q22.1(chr2:139896665-140201444)x3 http://identifiers.org/clinvar/155272 ^@ GRCh38/hg38 5q35.2(chr5:174724141-174742787)x1 http://identifiers.org/clinvar/155273 ^@ GRCh38/hg38 10q25.3(chr10:116384965-116504253)x3 http://identifiers.org/clinvar/155274 ^@ GRCh38/hg38 7p22.3(chr7:45130-1298050)x1 http://identifiers.org/clinvar/155275 ^@ GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 http://identifiers.org/clinvar/155276 ^@ GRCh38/hg38 5p14.3(chr5:19857588-20747237)x3 http://identifiers.org/clinvar/155277 ^@ GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1 http://identifiers.org/clinvar/155278 ^@ GRCh38/hg38 Xq21.31(chrX:87272593-89485330)x0 http://identifiers.org/clinvar/155279 ^@ GRCh38/hg38 10q21.1(chr10:55427295-55645239)x1 http://identifiers.org/clinvar/155280 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22660239-23312035)x3 http://identifiers.org/clinvar/155281 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 http://identifiers.org/clinvar/155282 ^@ GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 http://identifiers.org/clinvar/155283 ^@ GRCh38/hg38 7q31.1(chr7:112984974-113485283)x1 http://identifiers.org/clinvar/155284 ^@ GRCh38/hg38 5p12(chr5:42720837-43251761)x3 http://identifiers.org/clinvar/155285 ^@ GRCh38/hg38 Xp22.33(chrX:646216-664161)x1 http://identifiers.org/clinvar/155286 ^@ GRCh38/hg38 Yp11.2(chrY:655725-1353033)x3 http://identifiers.org/clinvar/155287 ^@ GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3 http://identifiers.org/clinvar/155288 ^@ GRCh38/hg38 6q26(chr6:160892889-161535434)x3 http://identifiers.org/clinvar/155289 ^@ GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1 http://identifiers.org/clinvar/155290 ^@ GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 http://identifiers.org/clinvar/155291 ^@ GRCh38/hg38 3q25.32(chr3:158707865-158947436)x1 http://identifiers.org/clinvar/155292 ^@ GRCh38/hg38 16p13.3(chr16:6984266-7093878)x1 http://identifiers.org/clinvar/155293 ^@ GRCh38/hg38 1q42.2(chr1:232884821-233090102)x1 http://identifiers.org/clinvar/155294 ^@ GRCh38/hg38 Xq12(chrX:67676484-68288063)x4 http://identifiers.org/clinvar/155295 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 http://identifiers.org/clinvar/155296 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1 http://identifiers.org/clinvar/155297 ^@ GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 http://identifiers.org/clinvar/155298 ^@ GRCh38/hg38 2q21.2(chr2:131964039-132600985)x3 http://identifiers.org/clinvar/155299 ^@ GRCh38/hg38 2p24.2-24.1(chr2:18439073-19428650)x1 http://identifiers.org/clinvar/155300 ^@ GRCh38/hg38 Xp11.4(chrX:38627546-38769303)x2 http://identifiers.org/clinvar/155301 ^@ GRCh38/hg38 6p23-22.3(chr6:14792404-15424044)x1 http://identifiers.org/clinvar/155302 ^@ GRCh38/hg38 17q11.2(chr17:30599358-31009835)x1 http://identifiers.org/clinvar/155303 ^@ GRCh38/hg38 Yq11.23(chrY:24875984-25078242)x0 http://identifiers.org/clinvar/155304 ^@ GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 http://identifiers.org/clinvar/155305 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3 http://identifiers.org/clinvar/155306 ^@ GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 http://identifiers.org/clinvar/155307 ^@ GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 http://identifiers.org/clinvar/155308 ^@ GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3 http://identifiers.org/clinvar/155309 ^@ GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 http://identifiers.org/clinvar/155310 ^@ GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 http://identifiers.org/clinvar/155311 ^@ GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3 http://identifiers.org/clinvar/155312 ^@ GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 http://identifiers.org/clinvar/155313 ^@ GRCh38/hg38 Xp22.31(chrX:8619710-8740650)x3 http://identifiers.org/clinvar/155314 ^@ GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 http://identifiers.org/clinvar/155315 ^@ GRCh38/hg38 Xq21.1(chrX:77799457-77890125)x2 http://identifiers.org/clinvar/155316 ^@ GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3 http://identifiers.org/clinvar/155317 ^@ GRCh38/hg38 15q26.3(chr15:98068625-99258729)x3 http://identifiers.org/clinvar/155318 ^@ GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3 http://identifiers.org/clinvar/155319 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 http://identifiers.org/clinvar/155320 ^@ GRCh38/hg38 17q21.31(chr17:45626435-46110126)x1 http://identifiers.org/clinvar/155321 ^@ GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 http://identifiers.org/clinvar/155322 ^@ GRCh38/hg38 7q21.11(chr7:80627421-80651297)x1 http://identifiers.org/clinvar/155323 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3 http://identifiers.org/clinvar/155324 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 http://identifiers.org/clinvar/155325 ^@ GRCh38/hg38 12p12.3(chr12:17792015-18095494)x1 http://identifiers.org/clinvar/155326 ^@ GRCh38/hg38 16q23.1(chr16:74693100-74959509)x1 http://identifiers.org/clinvar/155327 ^@ GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 http://identifiers.org/clinvar/155328 ^@ GRCh38/hg38 10q23.2(chr10:86693570-86764726)x3 http://identifiers.org/clinvar/155329 ^@ GRCh38/hg38 16p12.1(chr16:26495864-27278367)x3 http://identifiers.org/clinvar/155330 ^@ GRCh38/hg38 1p31.3(chr1:61234063-61660298)x3 http://identifiers.org/clinvar/155331 ^@ GRCh38/hg38 2q31.2(chr2:177685412-177720934)x3 http://identifiers.org/clinvar/155332 ^@ GRCh38/hg38 2q31.2(chr2:177685412-177712274)x3 http://identifiers.org/clinvar/155333 ^@ GRCh38/hg38 3p26.3(chr3:2187760-2269057)x3 http://identifiers.org/clinvar/155334 ^@ GRCh38/hg38 14q22.3-23.1(chr14:57121531-58028799)x1 http://identifiers.org/clinvar/155335 ^@ GRCh38/hg38 16q23.3(chr16:82138536-83643342)x3 http://identifiers.org/clinvar/155336 ^@ GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3 http://identifiers.org/clinvar/155337 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28701299-30094195)x3 http://identifiers.org/clinvar/155338 ^@ GRCh38/hg38 4p15.2(chr4:21614789-21832048)x1 http://identifiers.org/clinvar/155339 ^@ GRCh38/hg38 9p21.2(chr9:26063297-26480485)x1 http://identifiers.org/clinvar/155340 ^@ GRCh38/hg38 16p12.2(chr16:21790568-22430686)x1 http://identifiers.org/clinvar/155341 ^@ GRCh38/hg38 7p12.1(chr7:51241591-52097376)x3 http://identifiers.org/clinvar/155342 ^@ GRCh38/hg38 10p11.22(chr10:31468089-31622825)x3 http://identifiers.org/clinvar/155343 ^@ GRCh38/hg38 7p11.2(chr7:57166206-57819147)x3 http://identifiers.org/clinvar/155344 ^@ GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) http://identifiers.org/clinvar/155345 ^@ GRCh38/hg38 9p13.1(chr9:38381815-38787483)x4 http://identifiers.org/clinvar/155346 ^@ GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1 http://identifiers.org/clinvar/155347 ^@ GRCh38/hg38 7q21.2(chr7:92074326-92160217)x3 http://identifiers.org/clinvar/155348 ^@ GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 http://identifiers.org/clinvar/155349 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3 http://identifiers.org/clinvar/155350 ^@ GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 http://identifiers.org/clinvar/155351 ^@ GRCh38/hg38 7q35(chr7:145744123-146198176)x1 http://identifiers.org/clinvar/155352 ^@ GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3 http://identifiers.org/clinvar/155353 ^@ GRCh38/hg38 10q22.1(chr10:71211967-71614160)x1 http://identifiers.org/clinvar/155354 ^@ GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4 http://identifiers.org/clinvar/155355 ^@ GRCh38/hg38 Yq12(chrY:56898727-57190586)x0 http://identifiers.org/clinvar/155356 ^@ GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 http://identifiers.org/clinvar/155357 ^@ GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 http://identifiers.org/clinvar/155358 ^@ GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 http://identifiers.org/clinvar/155359 ^@ GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 http://identifiers.org/clinvar/155360 ^@ GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1 http://identifiers.org/clinvar/155361 ^@ GRCh38/hg38 3p22.1(chr3:41316452-41784984)x1 http://identifiers.org/clinvar/155362 ^@ GRCh38/hg38 4q35.2(chr4:187528920-188139456)x3 http://identifiers.org/clinvar/155363 ^@ GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3 http://identifiers.org/clinvar/155364 ^@ GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 http://identifiers.org/clinvar/155365 ^@ GRCh38/hg38 7p11.2(chr7:57233248-57966167)x3 http://identifiers.org/clinvar/155366 ^@ GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 http://identifiers.org/clinvar/155367 ^@ GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 http://identifiers.org/clinvar/155368 ^@ GRCh38/hg38 Xp21.1(chrX:31518752-31636035)x3 http://identifiers.org/clinvar/155369 ^@ GRCh38/hg38 1q21.1(chr1:145601946-145809957)x1 http://identifiers.org/clinvar/155370 ^@ GRCh38/hg38 Xq21.1(chrX:77803550-77887501)x3 http://identifiers.org/clinvar/155371 ^@ GRCh38/hg38 19p13.11-12(chr19:19767502-21093565)x1 http://identifiers.org/clinvar/155372 ^@ GRCh38/hg38 7q11.22(chr7:70300438-70447453)x1 http://identifiers.org/clinvar/155373 ^@ GRCh38/hg38 15q13.3(chr15:31634435-32051986)x3 http://identifiers.org/clinvar/155374 ^@ GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 http://identifiers.org/clinvar/155375 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 http://identifiers.org/clinvar/155376 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 http://identifiers.org/clinvar/155377 ^@ GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 http://identifiers.org/clinvar/155378 ^@ GRCh38/hg38 7q36.3(chr7:158343471-158590915)x1 http://identifiers.org/clinvar/155379 ^@ GRCh38/hg38 7q31.1(chr7:111096212-111416813)x1 http://identifiers.org/clinvar/155380 ^@ GRCh38/hg38 18q21.33(chr18:63006378-63307284)x1 http://identifiers.org/clinvar/155381 ^@ GRCh38/hg38 3p26.3(chr3:2567532-2637831)x3 http://identifiers.org/clinvar/155382 ^@ GRCh38/hg38 7q11.21(chr7:62977012-66848675) http://identifiers.org/clinvar/155383 ^@ GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 http://identifiers.org/clinvar/155384 ^@ GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3 http://identifiers.org/clinvar/155385 ^@ GRCh38/hg38 Xp22.11-21.3(chrX:24249402-25137657)x3 http://identifiers.org/clinvar/155386 ^@ GRCh38/hg38 6q22.31(chr6:123188343-124008918)x3 http://identifiers.org/clinvar/155387 ^@ GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) http://identifiers.org/clinvar/155388 ^@ GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879) http://identifiers.org/clinvar/155389 ^@ GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1 http://identifiers.org/clinvar/155390 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 http://identifiers.org/clinvar/155391 ^@ GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 http://identifiers.org/clinvar/155392 ^@ GRCh38/hg38 20p12.1(chr20:14680197-14714358)x1 http://identifiers.org/clinvar/155393 ^@ GRCh38/hg38 18q21.1(chr18:47037809-47065491)x1 http://identifiers.org/clinvar/155394 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1 http://identifiers.org/clinvar/155395 ^@ GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 http://identifiers.org/clinvar/155396 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 http://identifiers.org/clinvar/155397 ^@ GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1 http://identifiers.org/clinvar/155398 ^@ GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1 http://identifiers.org/clinvar/155399 ^@ GRCh38/hg38 Xp22.11(chrX:22173842-22186370)x2 http://identifiers.org/clinvar/155400 ^@ GRCh38/hg38 5p15.2(chr5:11175055-11208328)x3 http://identifiers.org/clinvar/155401 ^@ GRCh38/hg38 4q35.1-35.2(chr4:186008491-186212590)x4 http://identifiers.org/clinvar/155402 ^@ GRCh38/hg38 3q28(chr3:189490327-189767254)x1 http://identifiers.org/clinvar/155403 ^@ GRCh38/hg38 3p26.2-26.1(chr3:3761804-4180761)x1 http://identifiers.org/clinvar/155404 ^@ GRCh38/hg38 18p11.32(chr18:367724-759986)x1 http://identifiers.org/clinvar/155405 ^@ GRCh38/hg38 20p13(chr20:2526755-3081651)x3 http://identifiers.org/clinvar/155406 ^@ GRCh38/hg38 1p31.1(chr1:78731929-79011132)x1 http://identifiers.org/clinvar/155407 ^@ GRCh38/hg38 2q21.1(chr2:130720374-131388759)x3 http://identifiers.org/clinvar/155408 ^@ GRCh38/hg38 3q28(chr3:188678746-188713755)x1 http://identifiers.org/clinvar/155409 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 http://identifiers.org/clinvar/155410 ^@ GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 http://identifiers.org/clinvar/155411 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 http://identifiers.org/clinvar/155412 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 http://identifiers.org/clinvar/155413 ^@ GRCh38/hg38 10p13(chr10:16223358-16465453)x1 http://identifiers.org/clinvar/155414 ^@ GRCh38/hg38 Xp22.31(chrX:8047242-8278072)x1 http://identifiers.org/clinvar/155415 ^@ GRCh38/hg38 7q31.32-31.33(chr7:123303689-124171626)x3 http://identifiers.org/clinvar/155416 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 http://identifiers.org/clinvar/155417 ^@ GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 http://identifiers.org/clinvar/155418 ^@ GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 http://identifiers.org/clinvar/155419 ^@ GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3 http://identifiers.org/clinvar/155420 ^@ GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 http://identifiers.org/clinvar/155421 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4 http://identifiers.org/clinvar/155422 ^@ GRCh38/hg38 3q29(chr3:195963356-197629463)x3 http://identifiers.org/clinvar/155423 ^@ GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3 http://identifiers.org/clinvar/155424 ^@ GRCh38/hg38 6q22.31(chr6:123197871-124008917)x3 http://identifiers.org/clinvar/155425 ^@ GRCh38/hg38 12q21.31-21.32(chr12:85722164-86332192)x3 http://identifiers.org/clinvar/155426 ^@ GRCh38/hg38 16p11.2-11.1(chr16:34963121-36048843)x3 http://identifiers.org/clinvar/155427 ^@ GRCh38/hg38 4q21.21(chr4:79621254-79898438)x1 http://identifiers.org/clinvar/155428 ^@ GRCh38/hg38 14q31.1(chr14:80621095-80870127)x1 http://identifiers.org/clinvar/155429 ^@ GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 http://identifiers.org/clinvar/155430 ^@ GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 http://identifiers.org/clinvar/155431 ^@ GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3 http://identifiers.org/clinvar/155432 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3 http://identifiers.org/clinvar/155433 ^@ GRCh38/hg38 8p22(chr8:13302159-14802548)x3 http://identifiers.org/clinvar/155434 ^@ GRCh38/hg38 3q29(chr3:193704605-198125115)x3 http://identifiers.org/clinvar/155435 ^@ GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3 http://identifiers.org/clinvar/155436 ^@ GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 http://identifiers.org/clinvar/155437 ^@ GRCh38/hg38 22q13.33(chr22:50726947-50759410)x3 http://identifiers.org/clinvar/155438 ^@ GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 http://identifiers.org/clinvar/155439 ^@ GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3 http://identifiers.org/clinvar/155440 ^@ GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1 http://identifiers.org/clinvar/155441 ^@ GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 http://identifiers.org/clinvar/155442 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 http://identifiers.org/clinvar/155443 ^@ GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4 http://identifiers.org/clinvar/155444 ^@ GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3 http://identifiers.org/clinvar/155445 ^@ GRCh38/hg38 8p23.3(chr8:208048-1576545)x3 http://identifiers.org/clinvar/155446 ^@ GRCh38/hg38 3q28(chr3:189218502-190089843)x3 http://identifiers.org/clinvar/155447 ^@ GRCh38/hg38 8p23.1(chr8:9009853-10496260)x3 http://identifiers.org/clinvar/155448 ^@ GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 http://identifiers.org/clinvar/155449 ^@ GRCh38/hg38 Xq26.2(chrX:133331386-133707771)x3 http://identifiers.org/clinvar/155450 ^@ GRCh38/hg38 17p11.2(chr17:17588462-17696894)x3 http://identifiers.org/clinvar/155451 ^@ GRCh38/hg38 Xp22.31(chrX:7297294-7481693)x2 http://identifiers.org/clinvar/155452 ^@ GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1 http://identifiers.org/clinvar/155453 ^@ GRCh38/hg38 4q13.3(chr4:69860680-70385052)x3 http://identifiers.org/clinvar/155454 ^@ GRCh38/hg38 3p22.1(chr3:41459706-41796883)x1 http://identifiers.org/clinvar/155455 ^@ GRCh38/hg38 6p25.3(chr6:156974-302261)x1 http://identifiers.org/clinvar/155456 ^@ GRCh38/hg38 2q22.2-22.3(chr2:143328755-143590337)x1 http://identifiers.org/clinvar/155457 ^@ GRCh38/hg38 16q23.3(chr16:82576027-82988261)x1 http://identifiers.org/clinvar/155458 ^@ GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2 http://identifiers.org/clinvar/155459 ^@ GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3 http://identifiers.org/clinvar/155460 ^@ GRCh38/hg38 Xp22.11-21.3(chrX:24627016-25321278)x3 http://identifiers.org/clinvar/155461 ^@ GRCh38/hg38 7p21.2(chr7:14844332-15574557)x3 http://identifiers.org/clinvar/155462 ^@ GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3 http://identifiers.org/clinvar/155463 ^@ GRCh38/hg38 16p11.2(chr16:28807707-29039870)x1 http://identifiers.org/clinvar/155464 ^@ GRCh38/hg38 12q14.1(chr12:61201517-62266814)x3 http://identifiers.org/clinvar/155465 ^@ GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1 http://identifiers.org/clinvar/155466 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 http://identifiers.org/clinvar/155467 ^@ GRCh38/hg38 7q11.22(chr7:72179436-72556486)x1 http://identifiers.org/clinvar/155468 ^@ GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3 http://identifiers.org/clinvar/155469 ^@ GRCh38/hg38 3p14.1(chr3:67561815-68974197)x1 http://identifiers.org/clinvar/155470 ^@ GRCh38/hg38 4q22.3-23(chr4:97804232-98018690)x1 http://identifiers.org/clinvar/155471 ^@ GRCh38/hg38 3p13-12.3(chr3:73813736-74643187)x1 http://identifiers.org/clinvar/155472 ^@ GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1 http://identifiers.org/clinvar/155473 ^@ GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3 http://identifiers.org/clinvar/155474 ^@ GRCh38/hg38 1p12(chr1:120007131-120068631)x1 http://identifiers.org/clinvar/155475 ^@ GRCh38/hg38 6q26(chr6:163036436-163493764)x3 http://identifiers.org/clinvar/155476 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 http://identifiers.org/clinvar/155477 ^@ GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 http://identifiers.org/clinvar/155478 ^@ GRCh38/hg38 13q31.3(chr13:91799693-92057976)x1 http://identifiers.org/clinvar/155479 ^@ GRCh38/hg38 17p11.2-11.1(chr17:22181582-22762465)x1 http://identifiers.org/clinvar/155480 ^@ GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 http://identifiers.org/clinvar/155481 ^@ GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1 http://identifiers.org/clinvar/155482 ^@ GRCh38/hg38 8q24.11(chr8:117409337-117879798)x1 http://identifiers.org/clinvar/155483 ^@ GRCh38/hg38 5p14.3(chr5:21919775-22243598)x1 http://identifiers.org/clinvar/155484 ^@ GRCh38/hg38 20q11.21(chr20:32395883-32470045)x3 http://identifiers.org/clinvar/155485 ^@ GRCh38/hg38 15q11.2(chr15:22581937-23102647)x1 http://identifiers.org/clinvar/155486 ^@ GRCh38/hg38 7q36.3(chr7:158795289-159327017)x3 http://identifiers.org/clinvar/155487 ^@ GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1 http://identifiers.org/clinvar/155488 ^@ GRCh38/hg38 16p13.2-13.13(chr16:9992260-10429871)x3 http://identifiers.org/clinvar/155489 ^@ GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 http://identifiers.org/clinvar/155490 ^@ GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 http://identifiers.org/clinvar/155491 ^@ GRCh38/hg38 17p13.3(chr17:1149477-1473293)x3 http://identifiers.org/clinvar/155492 ^@ GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 http://identifiers.org/clinvar/155493 ^@ GRCh38/hg38 14q23.2(chr14:62848375-63094121)x1 http://identifiers.org/clinvar/155494 ^@ GRCh38/hg38 4q23-24(chr4:100021886-100301285)x1 http://identifiers.org/clinvar/155495 ^@ GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 http://identifiers.org/clinvar/155496 ^@ GRCh38/hg38 3p24.2(chr3:24888104-25439685)x1 http://identifiers.org/clinvar/155497 ^@ GRCh38/hg38 Xq28(chrX:149045934-149690142)x2 http://identifiers.org/clinvar/155498 ^@ GRCh38/hg38 Xp22.31(chrX:7965857-8614176)x3 http://identifiers.org/clinvar/155499 ^@ GRCh38/hg38 19p12-11(chr19:23631687-24324339)x4 http://identifiers.org/clinvar/155500 ^@ GRCh38/hg38 22q13.31(chr22:46271847-46482065)x1 http://identifiers.org/clinvar/155501 ^@ GRCh38/hg38 2q32.3(chr2:192679201-193177575)x1 http://identifiers.org/clinvar/155502 ^@ GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1 http://identifiers.org/clinvar/155503 ^@ GRCh38/hg38 Xp22.31(chrX:6922830-8167603)x1 http://identifiers.org/clinvar/155504 ^@ GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1 http://identifiers.org/clinvar/155505 ^@ GRCh38/hg38 11p11.12(chr11:50104415-50649742)x3 http://identifiers.org/clinvar/155506 ^@ GRCh38/hg38 3q13.31(chr3:116600049-116862689)x1 http://identifiers.org/clinvar/155507 ^@ GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3 http://identifiers.org/clinvar/155508 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3 http://identifiers.org/clinvar/155509 ^@ GRCh38/hg38 18q22.1(chr18:66743643-67352289)x3 http://identifiers.org/clinvar/155510 ^@ GRCh38/hg38 13q14.2(chr13:48591738-50064488)x3 http://identifiers.org/clinvar/155511 ^@ GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3 http://identifiers.org/clinvar/155512 ^@ GRCh38/hg38 22q11.23(chr22:23792169-23850856)x3 http://identifiers.org/clinvar/155513 ^@ GRCh38/hg38 6q12(chr6:64668014-65108966)x1 http://identifiers.org/clinvar/155514 ^@ GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 http://identifiers.org/clinvar/155515 ^@ GRCh38/hg38 6q27(chr6:167760366-170610394)x1 http://identifiers.org/clinvar/155516 ^@ GRCh38/hg38 Xp22.2(chrX:10427226-10504306)x3 http://identifiers.org/clinvar/155517 ^@ GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 http://identifiers.org/clinvar/155518 ^@ GRCh37/hg19 1q21.1-21.2(chr1:145885646-147978640)x3 http://identifiers.org/clinvar/155519 ^@ GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 http://identifiers.org/clinvar/155520 ^@ GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 http://identifiers.org/clinvar/155521 ^@ GRCh38/hg38 6q16.2-16.3(chr6:99830479-100195802)x1 http://identifiers.org/clinvar/155522 ^@ GRCh38/hg38 3q12.1(chr3:99053501-99695446)x3 http://identifiers.org/clinvar/155523 ^@ GRCh38/hg38 5q35.3(chr5:178983149-179627701)x3 http://identifiers.org/clinvar/155524 ^@ GRCh38/hg38 7p11.2(chr7:57144128-57966167)x3 http://identifiers.org/clinvar/155525 ^@ GRCh38/hg38 Xp22.2(chrX:10544684-11145505)x2 http://identifiers.org/clinvar/155526 ^@ GRCh38/hg38 Xq21.33(chrX:97315114-97999718)x2 http://identifiers.org/clinvar/155527 ^@ GRCh38/hg38 Yp11.2(chrY:3015275-3567794)x2 http://identifiers.org/clinvar/155528 ^@ GRCh38/hg38 2q37.2-37.3(chr2:235927742-236472322)x3 http://identifiers.org/clinvar/155529 ^@ GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 http://identifiers.org/clinvar/155530 ^@ GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 http://identifiers.org/clinvar/155531 ^@ GRCh38/hg38 15q11.2(chr15:22358243-23102647)x1 http://identifiers.org/clinvar/155532 ^@ GRCh38/hg38 1p33(chr1:49217526-49848140)x1 http://identifiers.org/clinvar/155533 ^@ GRCh38/hg38 1p31.1(chr1:71112628-71339459)x1 http://identifiers.org/clinvar/155534 ^@ GRCh38/hg38 1q21.1(chr1:145605589-146057729)x1 http://identifiers.org/clinvar/155535 ^@ GRCh38/hg38 3q26.31(chr3:171960150-172473569)x1 http://identifiers.org/clinvar/155536 ^@ GRCh38/hg38 Xp22.33(chrX:1643664-2450211)x3 http://identifiers.org/clinvar/155537 ^@ GRCh38/hg38 Yq11.21-11.221(chrY:12322751-13118630)x0 http://identifiers.org/clinvar/155538 ^@ GRCh38/hg38 10q26.3(chr10:131448252-131943718)x3 http://identifiers.org/clinvar/155539 ^@ GRCh38/hg38 11p11.12(chr11:49057305-49831850)x1 http://identifiers.org/clinvar/155540 ^@ GRCh38/hg38 15q13.3(chr15:31796097-32135866)x3 http://identifiers.org/clinvar/155541 ^@ GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3 http://identifiers.org/clinvar/155542 ^@ GRCh38/hg38 4q35.2(chr4:189513541-190036318)x3 http://identifiers.org/clinvar/155543 ^@ GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 http://identifiers.org/clinvar/155544 ^@ GRCh38/hg38 9q34.3(chr9:137757333-137790980)x4 http://identifiers.org/clinvar/155545 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/155546 ^@ GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1 http://identifiers.org/clinvar/155547 ^@ GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 http://identifiers.org/clinvar/155548 ^@ GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1 http://identifiers.org/clinvar/155549 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2740571-3165943)x3 http://identifiers.org/clinvar/155550 ^@ GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 http://identifiers.org/clinvar/155551 ^@ GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 http://identifiers.org/clinvar/155552 ^@ GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 http://identifiers.org/clinvar/155553 ^@ GRCh38/hg38 7q36.1(chr7:151843296-152652302)x3 http://identifiers.org/clinvar/155554 ^@ GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3 http://identifiers.org/clinvar/155555 ^@ GRCh38/hg38 Xp22.31(chrX:7842674-8627284)x3 http://identifiers.org/clinvar/155556 ^@ GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 http://identifiers.org/clinvar/155557 ^@ GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 http://identifiers.org/clinvar/155558 ^@ GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3 http://identifiers.org/clinvar/155559 ^@ GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 http://identifiers.org/clinvar/155560 ^@ GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 http://identifiers.org/clinvar/155561 ^@ GRCh38/hg38 6q26(chr6:162124839-162738363)x3 http://identifiers.org/clinvar/155562 ^@ GRCh38/hg38 3q21.1(chr3:123844472-123900064)x1 http://identifiers.org/clinvar/155563 ^@ GRCh38/hg38 16p13.3(chr16:3777551-3799207)x3 http://identifiers.org/clinvar/155564 ^@ GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 http://identifiers.org/clinvar/155565 ^@ GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1 http://identifiers.org/clinvar/155566 ^@ GRCh38/hg38 2p21(chr2:44307367-44316296)x0 http://identifiers.org/clinvar/155567 ^@ GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 http://identifiers.org/clinvar/155568 ^@ GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3 http://identifiers.org/clinvar/155569 ^@ GRCh38/hg38 3p26.3(chr3:2049380-2753532)x1 http://identifiers.org/clinvar/155570 ^@ GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1 http://identifiers.org/clinvar/155571 ^@ GRCh38/hg38 10p11.22-11.21(chr10:34121283-34690759)x1 http://identifiers.org/clinvar/155572 ^@ GRCh38/hg38 19p12(chr19:23438627-23899197)x1 http://identifiers.org/clinvar/155573 ^@ GRCh38/hg38 19q13.11(chr19:32312378-32535399)x1 http://identifiers.org/clinvar/155574 ^@ GRCh38/hg38 2q11.1(chr2:95143653-95431499)x1 http://identifiers.org/clinvar/155575 ^@ GRCh38/hg38 7p15.3(chr7:24539631-24756793)x1 http://identifiers.org/clinvar/155576 ^@ GRCh38/hg38 2p12(chr2:79119966-80133374)x3 http://identifiers.org/clinvar/155577 ^@ GRCh38/hg38 Xp22.33(chrX:653429-722113)x1 http://identifiers.org/clinvar/155578 ^@ GRCh38/hg38 2q22.2(chr2:142197989-143208649)x3 http://identifiers.org/clinvar/155579 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 http://identifiers.org/clinvar/155580 ^@ GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3 http://identifiers.org/clinvar/155581 ^@ GRCh38/hg38 2q31.2(chr2:177685412-177712027)x3 http://identifiers.org/clinvar/155582 ^@ GRCh38/hg38 Xp22.31(chrX:6199640-6531796)x3 http://identifiers.org/clinvar/155583 ^@ GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 http://identifiers.org/clinvar/155584 ^@ GRCh38/hg38 18p11.31(chr18:3132909-3439461)x3 http://identifiers.org/clinvar/155585 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2466349-2888490)x3 http://identifiers.org/clinvar/155586 ^@ GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 http://identifiers.org/clinvar/155587 ^@ GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1 http://identifiers.org/clinvar/155588 ^@ GRCh38/hg38 11q25(chr11:132588975-135068576)x1 http://identifiers.org/clinvar/155589 ^@ GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 http://identifiers.org/clinvar/155590 ^@ GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1 http://identifiers.org/clinvar/155591 ^@ GRCh38/hg38 12q14.2(chr12:62764381-63470562)x1 http://identifiers.org/clinvar/155592 ^@ GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 http://identifiers.org/clinvar/155593 ^@ GRCh38/hg38 3p26.3(chr3:2170633-2434666)x3 http://identifiers.org/clinvar/155594 ^@ GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1 http://identifiers.org/clinvar/155595 ^@ GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 http://identifiers.org/clinvar/155596 ^@ GRCh38/hg38 17q12(chr17:36566143-37890225)x3 http://identifiers.org/clinvar/155597 ^@ GRCh38/hg38 8p22(chr8:13417889-14258031)x3 http://identifiers.org/clinvar/155598 ^@ GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1 http://identifiers.org/clinvar/155599 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 http://identifiers.org/clinvar/155600 ^@ GRCh38/hg38 Xq28(chrX:153001051-153312017)x1 http://identifiers.org/clinvar/155601 ^@ GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1 http://identifiers.org/clinvar/155602 ^@ GRCh38/hg38 Xq28(chrX:149176559-149745979)x3 http://identifiers.org/clinvar/155603 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 http://identifiers.org/clinvar/155604 ^@ GRCh38/hg38 19q13.11(chr19:32319651-32537584)x1 http://identifiers.org/clinvar/155605 ^@ GRCh38/hg38 Xp22.2-22.13(chrX:16967798-17710902)x3 http://identifiers.org/clinvar/155606 ^@ GRCh38/hg38 Xp21.3(chrX:28773665-28885326)x3 http://identifiers.org/clinvar/155607 ^@ GRCh38/hg38 3q13.31-13.32(chr3:114734452-118164045)x1 http://identifiers.org/clinvar/155608 ^@ GRCh38/hg38 11p11.12(chr11:49992205-50637296)x3 http://identifiers.org/clinvar/155609 ^@ GRCh38/hg38 2p25.3(chr2:12770-234590)x1 http://identifiers.org/clinvar/155610 ^@ GRCh38/hg38 2q11.2(chr2:100406992-100919730)x3 http://identifiers.org/clinvar/155611 ^@ GRCh38/hg38 2q11.2(chr2:97422165-98203456)x3 http://identifiers.org/clinvar/155612 ^@ GRCh38/hg38 13q22.3-31.1(chr13:77437522-78501976)x3 http://identifiers.org/clinvar/155613 ^@ GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3 http://identifiers.org/clinvar/155614 ^@ GRCh38/hg38 16q21(chr16:61782048-61799470)x1 http://identifiers.org/clinvar/155615 ^@ GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 http://identifiers.org/clinvar/155616 ^@ GRCh38/hg38 8q21.3(chr8:90543310-91144982)x1 http://identifiers.org/clinvar/155617 ^@ GRCh38/hg38 18q12.2(chr18:36980196-37529163)x3 http://identifiers.org/clinvar/155618 ^@ GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3 http://identifiers.org/clinvar/155619 ^@ GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 http://identifiers.org/clinvar/155620 ^@ GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1 http://identifiers.org/clinvar/155621 ^@ GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 http://identifiers.org/clinvar/155622 ^@ GRCh38/hg38 15q11.2(chr15:22790740-23102647)x1 http://identifiers.org/clinvar/155623 ^@ GRCh38/hg38 16q24.3(chr16:89339007-89534853)x1 http://identifiers.org/clinvar/155624 ^@ GRCh38/hg38 6q11.1(chr6:61979668-62246665)x1 http://identifiers.org/clinvar/155625 ^@ GRCh38/hg38 1q43(chr1:242653815-243189066)x3 http://identifiers.org/clinvar/155626 ^@ GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1 http://identifiers.org/clinvar/155627 ^@ GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 http://identifiers.org/clinvar/155628 ^@ GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 http://identifiers.org/clinvar/155629 ^@ GRCh38/hg38 17p13.3(chr17:1218523-1367463)x3 http://identifiers.org/clinvar/155630 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0 http://identifiers.org/clinvar/155631 ^@ GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 http://identifiers.org/clinvar/155632 ^@ GRCh38/hg38 9q31.2(chr9:105721899-105741297)x0 http://identifiers.org/clinvar/155633 ^@ GRCh38/hg38 20p13(chr20:80927-1806080)x1 http://identifiers.org/clinvar/155634 ^@ GRCh38/hg38 16p11.2-11.1(chr16:34963120-36048843)x3 http://identifiers.org/clinvar/155635 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 http://identifiers.org/clinvar/155636 ^@ GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 http://identifiers.org/clinvar/155637 ^@ GRCh38/hg38 2p24.3-24.2(chr2:16230078-16603848)x0 http://identifiers.org/clinvar/155638 ^@ GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 http://identifiers.org/clinvar/155639 ^@ GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 http://identifiers.org/clinvar/155640 ^@ GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 http://identifiers.org/clinvar/155641 ^@ GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 http://identifiers.org/clinvar/155642 ^@ GRCh38/hg38 16p13.3(chr16:35880-605262)x1 http://identifiers.org/clinvar/155643 ^@ GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 http://identifiers.org/clinvar/155644 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48904534-50138137)x3 http://identifiers.org/clinvar/155645 ^@ GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3 http://identifiers.org/clinvar/155646 ^@ GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 http://identifiers.org/clinvar/155647 ^@ GRCh38/hg38 2q22.1(chr2:137433939-138535492)x3 http://identifiers.org/clinvar/155648 ^@ GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 http://identifiers.org/clinvar/155649 ^@ GRCh38/hg38 15q11.2-12(chr15:24051424-27222420)x1 http://identifiers.org/clinvar/155650 ^@ GRCh38/hg38 22q12.1(chr22:28649631-28727009)x3 http://identifiers.org/clinvar/155651 ^@ GRCh38/hg38 15q11.2(chr15:22591732-23102647)x1 http://identifiers.org/clinvar/155652 ^@ GRCh38/hg38 Xp22.12(chrX:20154969-20217590)x0 http://identifiers.org/clinvar/155653 ^@ GRCh38/hg38 3p26.3(chr3:275343-1182519)x1 http://identifiers.org/clinvar/155654 ^@ GRCh38/hg38 4q34.3(chr4:180827139-181078775)x1 http://identifiers.org/clinvar/155655 ^@ GRCh38/hg38 9q33.1(chr9:116587616-116809939)x1 http://identifiers.org/clinvar/155656 ^@ GRCh38/hg38 15q13.1(chr15:28578576-29244060)x3 http://identifiers.org/clinvar/155657 ^@ GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 http://identifiers.org/clinvar/155658 ^@ GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1 http://identifiers.org/clinvar/155659 ^@ GRCh38/hg38 Xq28(chrX:154004083-154055920)x1 http://identifiers.org/clinvar/155660 ^@ GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 http://identifiers.org/clinvar/155661 ^@ GRCh38/hg38 7q31.1(chr7:113245819-114828815)x3 http://identifiers.org/clinvar/155662 ^@ GRCh38/hg38 18q21.1(chr18:46923513-46959260)x1 http://identifiers.org/clinvar/155663 ^@ GRCh38/hg38 1p31.1(chr1:71691191-72250907)x1 http://identifiers.org/clinvar/155664 ^@ GRCh38/hg38 10p11.1(chr10:38140648-38777664)x3 http://identifiers.org/clinvar/155665 ^@ GRCh38/hg38 1q43(chr1:241820063-242545979)x1 http://identifiers.org/clinvar/155666 ^@ GRCh38/hg38 7p15.3(chr7:24103873-24632089)x3 http://identifiers.org/clinvar/155667 ^@ GRCh38/hg38 9q21.33(chr9:84547445-84837143)x3 http://identifiers.org/clinvar/155668 ^@ GRCh38/hg38 Xp22.31(chrX:6209399-6531518)x3 http://identifiers.org/clinvar/155669 ^@ GRCh38/hg38 Xq12(chrX:66069949-67124285)x2 http://identifiers.org/clinvar/155670 ^@ GRCh38/hg38 12q12(chr12:43477600-44820113)x4 http://identifiers.org/clinvar/155671 ^@ GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2 http://identifiers.org/clinvar/155672 ^@ GRCh38/hg38 16p13.3(chr16:3700606-3810717)x1 http://identifiers.org/clinvar/155673 ^@ GRCh38/hg38 Xp22.33(chrX:1615504-2531194)x3 http://identifiers.org/clinvar/155674 ^@ GRCh38/hg38 5q31.3(chr5:143058895-143577350)x1 http://identifiers.org/clinvar/155675 ^@ GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 http://identifiers.org/clinvar/155676 ^@ GRCh38/hg38 4q35.2(chr4:187528920-188205072)x1 http://identifiers.org/clinvar/155677 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 http://identifiers.org/clinvar/155678 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/155679 ^@ GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 http://identifiers.org/clinvar/155680 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1 http://identifiers.org/clinvar/155681 ^@ GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 http://identifiers.org/clinvar/155682 ^@ GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1 http://identifiers.org/clinvar/155683 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 http://identifiers.org/clinvar/155684 ^@ GRCh38/hg38 6q11.1(chr6:61916628-62161152)x1 http://identifiers.org/clinvar/155685 ^@ GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 http://identifiers.org/clinvar/155686 ^@ GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 http://identifiers.org/clinvar/155687 ^@ GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 http://identifiers.org/clinvar/155688 ^@ GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1 http://identifiers.org/clinvar/155689 ^@ GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3 http://identifiers.org/clinvar/155690 ^@ GRCh38/hg38 3p26.1(chr3:4471708-4531661)x1 http://identifiers.org/clinvar/155691 ^@ GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4 http://identifiers.org/clinvar/155692 ^@ GRCh38/hg38 7q34(chr7:142237786-142778738)x3 http://identifiers.org/clinvar/155693 ^@ GRCh38/hg38 Xp22.31(chrX:6537108-8167603)x1 http://identifiers.org/clinvar/155694 ^@ GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1 http://identifiers.org/clinvar/155695 ^@ GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1 http://identifiers.org/clinvar/155696 ^@ GRCh38/hg38 3q25.32(chr3:158707865-158948178)x1 http://identifiers.org/clinvar/155697 ^@ GRCh38/hg38 4q34.3(chr4:177636645-178221621)x3 http://identifiers.org/clinvar/155698 ^@ GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0 http://identifiers.org/clinvar/155699 ^@ GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 http://identifiers.org/clinvar/155700 ^@ GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 http://identifiers.org/clinvar/155701 ^@ GRCh38/hg38 6q26(chr6:163203635-163422801)x3 http://identifiers.org/clinvar/155702 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 http://identifiers.org/clinvar/155703 ^@ GRCh38/hg38 7q21.11(chr7:83340444-83395480)x1 http://identifiers.org/clinvar/155704 ^@ GRCh38/hg38 8p23.2(chr8:2475295-3131009)x3 http://identifiers.org/clinvar/155705 ^@ GRCh38/hg38 17p13.3(chr17:1158140-1373950)x3 http://identifiers.org/clinvar/155706 ^@ GRCh38/hg38 1p31.1(chr1:70716347-71407975)x3 http://identifiers.org/clinvar/155707 ^@ GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 http://identifiers.org/clinvar/155708 ^@ GRCh38/hg38 6q24.1(chr6:139397617-139932971)x3 http://identifiers.org/clinvar/155709 ^@ GRCh38/hg38 Xp11.4(chrX:38617950-38775361)x3 http://identifiers.org/clinvar/155710 ^@ GRCh38/hg38 Xq11.1-11.2(chrX:63500531-64177350)x3 http://identifiers.org/clinvar/155711 ^@ GRCh38/hg38 8q12.1(chr8:56220544-57002161)x3 http://identifiers.org/clinvar/155712 ^@ GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1 http://identifiers.org/clinvar/155713 ^@ GRCh38/hg38 3q11.1-11.2(chr3:93800620-94792824)x3 http://identifiers.org/clinvar/155714 ^@ GRCh38/hg38 2p25.3(chr2:12770-4318861)x3 http://identifiers.org/clinvar/155715 ^@ GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 http://identifiers.org/clinvar/155718 ^@ NM_005726.5(TSFM):c.856C>T (p.Gln286Ter) http://identifiers.org/clinvar/155719 ^@ NM_005726.5(TSFM):c.944G>A (p.Cys315Tyr) http://identifiers.org/clinvar/155720 ^@ NM_005726.5(TSFM):c.57+4A>G http://identifiers.org/clinvar/155721 ^@ NM_015544.2(TMEM98):c.577G>C (p.Ala193Pro) http://identifiers.org/clinvar/155722 ^@ NM_000059.3(BRCA2):c.8490G>A (p.Trp2830Ter) http://identifiers.org/clinvar/155724 ^@ NM_000166.5(GJB1):c.259C>G (p.Pro87Ala) http://identifiers.org/clinvar/155725 ^@ NM_000166.5(GJB1):c.580A>G (p.Met194Val) http://identifiers.org/clinvar/155726 ^@ NM_000166.5(GJB1):c.77C>T (p.Ser26Leu) http://identifiers.org/clinvar/155727 ^@ NM_000166.5(GJB1):c.790C>T (p.Arg264Cys) http://identifiers.org/clinvar/155728 ^@ NM_001003800.1(BICD2):c.1079C>T (p.Ala360Val) http://identifiers.org/clinvar/155729 ^@ NM_001003800.1(BICD2):c.1993G>T (p.Val665Leu) http://identifiers.org/clinvar/155730 ^@ NM_001127660.1(MFN2):c.775C>T (p.Arg259Cys) http://identifiers.org/clinvar/155731 ^@ NM_001130702.2(BSCL2):c.833C>T (p.Pro278Leu) http://identifiers.org/clinvar/155732 ^@ NM_001177431.1(TRPV4):c.1468T>G (p.Phe490Val) http://identifiers.org/clinvar/155733 ^@ NM_001605.2(AARS):c.1685C>T (p.Thr562Ile) http://identifiers.org/clinvar/155734 ^@ NM_001605.2(AARS):c.2185C>T (p.Arg729Trp) http://identifiers.org/clinvar/155735 ^@ NM_001605.2(AARS):c.2791G>A (p.Gly931Ser) http://identifiers.org/clinvar/155736 ^@ NM_003680.3(YARS):c.241G>C (p.Asp81His) http://identifiers.org/clinvar/155737 ^@ NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) http://identifiers.org/clinvar/155738 ^@ NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) http://identifiers.org/clinvar/155739 ^@ NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) http://identifiers.org/clinvar/155740 ^@ NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) http://identifiers.org/clinvar/155741 ^@ NM_006158.4(NEFL):c.803T>G (p.Leu268Arg) http://identifiers.org/clinvar/155742 ^@ NM_015046.5(SETX):c.1504C>T (p.Arg502Trp) http://identifiers.org/clinvar/155743 ^@ NM_015046.5(SETX):c.1869A>C (p.Glu623Asp) http://identifiers.org/clinvar/155744 ^@ NM_015046.5(SETX):c.3968G>A (p.Arg1323Gln) http://identifiers.org/clinvar/155745 ^@ NM_015046.5(SETX):c.4225A>T (p.Asn1409Tyr) http://identifiers.org/clinvar/155746 ^@ NM_015046.5(SETX):c.4273A>G (p.Lys1425Glu) http://identifiers.org/clinvar/155747 ^@ NM_015046.5(SETX):c.7432A>C (p.Thr2478Pro) http://identifiers.org/clinvar/155748 ^@ NM_015046.5(SETX):c.7640T>C (p.Ile2547Thr) http://identifiers.org/clinvar/155749 ^@ NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr) http://identifiers.org/clinvar/155750 ^@ NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) http://identifiers.org/clinvar/155751 ^@ NM_015250.3(BICD2):c.2296C>T (p.Arg766Trp) http://identifiers.org/clinvar/155752 ^@ NM_018972.2(GDAP1):c.248G>C (p.Gly83Ala) http://identifiers.org/clinvar/155753 ^@ NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) http://identifiers.org/clinvar/155754 ^@ NM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg) http://identifiers.org/clinvar/155755 ^@ NM_183416.3(KIF1B):c.2274G>T (p.Glu758Asp) http://identifiers.org/clinvar/155756 ^@ NM_000044.4(AR):c.172_174(7_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/155757 ^@ NM_000044.3:c.1363GGT(2_4)GGC(12_29) http://identifiers.org/clinvar/155758 ^@ NP_000035.2:p.= http://identifiers.org/clinvar/155759 ^@ NM_000044.4(AR):c.172_174(38_?) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/155761 ^@ NM_004447.5(EPS8):c.88C>T (p.Gln30Ter) http://identifiers.org/clinvar/155762 ^@ NM_174873.2(P2RX2):c.178G>T (p.Val60Leu) http://identifiers.org/clinvar/155763 ^@ NM_170682.3(P2RX2):c.1057G>C (p.Gly353Arg) http://identifiers.org/clinvar/155764 ^@ NM_001077494.3(NFKB2):c.2556_2563delCCGAGACA (p.Arg853Alafs) http://identifiers.org/clinvar/155765 ^@ NM_001077494.3(NFKB2):c.2594A>G (p.Asp865Gly) http://identifiers.org/clinvar/155766 ^@ NM_001077494.3(NFKB2):c.2600C>T (p.Ala867Val) http://identifiers.org/clinvar/155768 ^@ NM_004139.4(LBP):c.998C>T (p.Pro333Leu) http://identifiers.org/clinvar/155769 ^@ NM_172240.2(POC1B):c.317G>C (p.Arg106Pro) http://identifiers.org/clinvar/155770 ^@ NM_172240.2(POC1B):c.199_201delCAG (p.Gln67del) http://identifiers.org/clinvar/155771 ^@ NM_172240.2(POC1B):c.810+1G>T http://identifiers.org/clinvar/155772 ^@ NM_020928.1(ZSWIM6):c.3487C>T (p.Arg1163Trp) http://identifiers.org/clinvar/155773 ^@ NM_001103.3(ACTN2):c.2497G>A (p.Ala833Thr) http://identifiers.org/clinvar/155774 ^@ NM_005751.4(AKAP9):c.10022C>T (p.Ser3341Leu) http://identifiers.org/clinvar/155775 ^@ NM_001167623.1(CACNA1C):c.1204G>A (p.Gly402Ser) http://identifiers.org/clinvar/155776 ^@ NM_001129841.1(CACNA1C):c.2548_2550delGAG (p.Glu850del) http://identifiers.org/clinvar/155777 ^@ NM_000393.4(COL5A2):c.1976C>T (p.Pro659Leu) http://identifiers.org/clinvar/155778 ^@ NM_000393.4(COL5A2):c.3471+8A>T http://identifiers.org/clinvar/155779 ^@ NM_013266.3(CTNNA3):c.2571delC (p.Leu858Terfs) http://identifiers.org/clinvar/155780 ^@ NM_013266.3(CTNNA3):c.2573T>C (p.Leu858Ser) http://identifiers.org/clinvar/155781 ^@ NM_004006.2(DMD):c.1713T>A (p.Phe571Leu) http://identifiers.org/clinvar/155782 ^@ NM_024422.4(DSC2):c.1163A>T (p.Asn388Ile) http://identifiers.org/clinvar/155783 ^@ NM_024422.4(DSC2):c.1559T>C (p.Ile520Thr) http://identifiers.org/clinvar/155784 ^@ NM_001943.4(DSG2):c.470C>T (p.Pro157Leu) http://identifiers.org/clinvar/155785 ^@ NM_001943.4(DSG2):c.1014+1G>A http://identifiers.org/clinvar/155786 ^@ NM_004415.3(DSP):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/155787 ^@ NM_004415.3(DSP):c.1315G>A (p.Val439Ile) http://identifiers.org/clinvar/155788 ^@ NM_004415.3(DSP):c.6295_6296delCCinsAT (p.Pro2099Ile) http://identifiers.org/clinvar/155789 ^@ NM_000118.3(ENG):c.158G>A (p.Cys53Tyr) http://identifiers.org/clinvar/155790 ^@ NM_000138.4(FBN1):c.1390C>G (p.Arg464Gly) http://identifiers.org/clinvar/155791 ^@ NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) http://identifiers.org/clinvar/155792 ^@ NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) http://identifiers.org/clinvar/155793 ^@ NM_000138.4(FBN1):c.4405C>T (p.Arg1469Cys) http://identifiers.org/clinvar/155794 ^@ NM_000138.4(FBN1):c.5783G>T (p.Cys1928Phe) http://identifiers.org/clinvar/155795 ^@ NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) http://identifiers.org/clinvar/155796 ^@ NM_001999.3(FBN2):c.518C>T (p.Thr173Ile) http://identifiers.org/clinvar/155797 ^@ NM_001999.3(FBN2):c.7808T>C (p.Phe2603Ser) http://identifiers.org/clinvar/155798 ^@ NM_004517.3(ILK):c.86dupA (p.Asp31Glyfs) http://identifiers.org/clinvar/155799 ^@ NM_004517.3(ILK):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/155800 ^@ NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) http://identifiers.org/clinvar/155801 ^@ NM_020433.4(JPH2):c.723C>G (p.Ser241Arg) http://identifiers.org/clinvar/155802 ^@ NM_002230.2(JUP):c.1035G>C (p.Lys345Asn) http://identifiers.org/clinvar/155804 ^@ NM_004985.4(KRAS):c.531_533dupGAA (p.Lys180_Ser181insLys) http://identifiers.org/clinvar/155805 ^@ NM_001171610.1(LDB3):c.358C>A (p.Pro120Thr) http://identifiers.org/clinvar/155806 ^@ NM_170707.3(LMNA):c.1086delT (p.Leu363Trpfs) http://identifiers.org/clinvar/155807 ^@ NM_000256.3(MYBPC3):c.1505_1509delGGTTC (p.Arg502Glnfs) http://identifiers.org/clinvar/155808 ^@ NM_000256.3(MYBPC3):c.3190+5G>A http://identifiers.org/clinvar/155809 ^@ NM_002471.3(MYH6):c.67C>T (p.Arg23Cys) http://identifiers.org/clinvar/155810 ^@ NM_002471.3(MYH6):c.694G>A (p.Gly232Ser) http://identifiers.org/clinvar/155811 ^@ NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) http://identifiers.org/clinvar/155812 ^@ NM_000257.3(MYH7):c.860A>G (p.Tyr287Cys) http://identifiers.org/clinvar/155813 ^@ NM_000257.3(MYH7):c.1856C>T (p.Thr619Ile) http://identifiers.org/clinvar/155814 ^@ NM_000257.3(MYH7):c.3158G>A (p.Arg1053Gln) http://identifiers.org/clinvar/155815 ^@ NM_001040113.1(MYH11):c.1892G>A (p.Arg631His) http://identifiers.org/clinvar/155816 ^@ NM_001040113.1(MYH11):c.3217G>A (p.Asp1073Asn) http://identifiers.org/clinvar/155817 ^@ NM_001040113.1(MYH11):c.5357C>T (p.Thr1786Met) http://identifiers.org/clinvar/155818 ^@ NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) http://identifiers.org/clinvar/155819 ^@ NM_053027.3(MYLK):c.2596G>A (p.Gly866Ser) http://identifiers.org/clinvar/155820 ^@ NM_053025.3(MYLK):c.4079G>A (p.Gly1360Asp) http://identifiers.org/clinvar/155821 ^@ NM_033118.3(MYLK2):c.902C>A (p.Thr301Asn) http://identifiers.org/clinvar/155822 ^@ NM_003803.3(MYOM1):c.1978C>G (p.Pro660Ala) http://identifiers.org/clinvar/155823 ^@ NM_003803.3(MYOM1):c.4148T>C (p.Ile1383Thr) http://identifiers.org/clinvar/155824 ^@ NM_001256267.1(MYPN):c.3124C>T (p.Arg1042Cys) http://identifiers.org/clinvar/155825 ^@ NM_001256267.1(MYPN):c.3697A>T (p.Ile1233Phe) http://identifiers.org/clinvar/155826 ^@ NM_017617.4(NOTCH1):c.2021T>C (p.Met674Thr) http://identifiers.org/clinvar/155827 ^@ NM_017617.4(NOTCH1):c.2812C>T (p.Arg938Trp) http://identifiers.org/clinvar/155828 ^@ NM_017617.4(NOTCH1):c.3901+3G>A http://identifiers.org/clinvar/155829 ^@ NM_002880.3(RAF1):c.1172G>T (p.Arg391Met) http://identifiers.org/clinvar/155830 ^@ NM_001134363.2(RBM20):c.3632C>T (p.Pro1211Leu) http://identifiers.org/clinvar/155831 ^@ NM_001035.2(RYR2):c.4692G>A (p.Met1564Ile) http://identifiers.org/clinvar/155832 ^@ NM_001035.2(RYR2):c.6433G>C (p.Gly2145Arg) http://identifiers.org/clinvar/155833 ^@ NM_001035.2(RYR2):c.11570A>G (p.Tyr3857Cys) http://identifiers.org/clinvar/155834 ^@ NM_001035.2(RYR2):c.12767T>C (p.Met4256Thr) http://identifiers.org/clinvar/155835 ^@ NM_174934.3(SCN4B):c.592_593+1delAAG http://identifiers.org/clinvar/155836 ^@ NM_005902.3(SMAD3):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/155837 ^@ NM_001135599.2(TGFB2):c.703G>C (p.Val235Leu) http://identifiers.org/clinvar/155838 ^@ NM_001135599.3(TGFB2):c.728-5T>C http://identifiers.org/clinvar/155839 ^@ NM_003242.5(TGFBR2):c.1382G>A (p.Cys461Tyr) http://identifiers.org/clinvar/155841 ^@ NM_000363.4(TNNI3):c.566G>A (p.Gly189Glu) http://identifiers.org/clinvar/155842 ^@ NM_001001430.2(TNNT2):c.580A>G (p.Thr194Ala) http://identifiers.org/clinvar/155843 ^@ NM_017636.3(TRPM4):c.1321G>A (p.Val441Met) http://identifiers.org/clinvar/155844 ^@ NM_133379.4(TTN):c.752A>G (p.His251Arg) http://identifiers.org/clinvar/155845 ^@ NM_133432.3(TTN):c.11313T>G (p.Tyr3771Ter) http://identifiers.org/clinvar/155846 ^@ NM_133432.3(TTN):c.30547A>G (p.Thr10183Ala) http://identifiers.org/clinvar/155847 ^@ NM_133432.3(TTN):c.37252G>A (p.Val12418Met) http://identifiers.org/clinvar/155848 ^@ NM_133432.3(TTN):c.40155_40158delCAAA (p.Lys13386Metfs) http://identifiers.org/clinvar/155849 ^@ NM_001267550.2(TTN):c.50858-3C>T http://identifiers.org/clinvar/155850 ^@ NM_001267550.2(TTN):c.57847+5_57847+8delGTAA http://identifiers.org/clinvar/155852 ^@ NM_006440.4(TXNRD2):c.236G>T (p.Arg79Leu) http://identifiers.org/clinvar/155853 ^@ NM_006440.4(TXNRD2):c.1321C>T (p.Arg441Ter) http://identifiers.org/clinvar/155859 ^@ NM_004170.5(SLC1A1):c.1333C>T (p.Arg445Trp) http://identifiers.org/clinvar/155860 ^@ NM_004170.5(SLC1A1):c.1184_1186delTCA (p.Ile395del) http://identifiers.org/clinvar/155861 ^@ NM_138425.3(C12orf57):c.184C>T (p.Gln62Ter) http://identifiers.org/clinvar/155862 ^@ NM_022336.3(EDAR):c.*42G>T http://identifiers.org/clinvar/155863 ^@ NM_022336.3(EDAR):c.1024+16delA http://identifiers.org/clinvar/155864 ^@ NM_022336.3(EDAR):c.1024+44C>T http://identifiers.org/clinvar/155865 ^@ NM_022336.3(EDAR):c.1056C>T (p.Cys352=) http://identifiers.org/clinvar/155866 ^@ NM_022336.3(EDAR):c.207C>T (p.Tyr69=) http://identifiers.org/clinvar/155867 ^@ NM_022336.3(EDAR):c.655+30T>C http://identifiers.org/clinvar/155868 ^@ NM_022336.3(EDAR):c.731-62T>C http://identifiers.org/clinvar/155869 ^@ NM_022336.3(EDAR):c.731-99C>T http://identifiers.org/clinvar/155870 ^@ NM_022336.3(EDAR):c.750C>T (p.Ser250=) http://identifiers.org/clinvar/155871 ^@ NM_000043.5(FAS):c.183G>A (p.Lys61=) http://identifiers.org/clinvar/155872 ^@ NM_025059.3(CCDC170):c.1710+1144T>G http://identifiers.org/clinvar/155873 ^@ NM_025059.3(CCDC170):c.1810G>A (p.Val604Ile) http://identifiers.org/clinvar/155874 ^@ NM_025059.3(CCDC170):c.*68A>C http://identifiers.org/clinvar/155875 ^@ NM_025059.3(CCDC170):c.*978A>G http://identifiers.org/clinvar/155876 ^@ NC_000006.12:g.151625494T>A http://identifiers.org/clinvar/155877 ^@ NC_000006.12:g.151627231G>A http://identifiers.org/clinvar/155878 ^@ NC_000006.12:g.151630085A>G http://identifiers.org/clinvar/155879 ^@ NM_001080414.3(CCDC88C):c.1391G>A (p.Arg464His) http://identifiers.org/clinvar/155880 ^@ NC_012920.1:m.3481G>A http://identifiers.org/clinvar/155881 ^@ NC_012920.1:m.3890G>A http://identifiers.org/clinvar/155882 ^@ NC_012920.1:m.5523T>G http://identifiers.org/clinvar/155884 ^@ NC_012920.1:m.5559A>G http://identifiers.org/clinvar/155885 ^@ NC_012920.1:m.9478T>C http://identifiers.org/clinvar/155887 ^@ NC_012920.1:m.10254G>A http://identifiers.org/clinvar/155888 ^@ NC_012920.1:m.11984T>C http://identifiers.org/clinvar/155889 ^@ NC_012920.1:m.13514A>G http://identifiers.org/clinvar/155890 ^@ NC_012920.1:m.1644G>T http://identifiers.org/clinvar/155891 ^@ NC_012920.1:m.3928G>C http://identifiers.org/clinvar/155892 ^@ NC_012920.1:m.8839G>C http://identifiers.org/clinvar/155893 ^@ NC_012920.1:m.8989G>C http://identifiers.org/clinvar/155894 ^@ mitochondrial DNA deletion http://identifiers.org/clinvar/155896 ^@ NM_005572.3(LMNA):c.1044G>T (p.Met348Ile) http://identifiers.org/clinvar/155897 ^@ NM_080629.2(COL11A1):c.781-450T>G http://identifiers.org/clinvar/155901 ^@ NM_005357.3(LIPE):c.3203_3221del19 (p.Val1068Glyfs) http://identifiers.org/clinvar/155902 ^@ NM_021926.3(ALX4):c.646C>G (p.Arg216Gly) http://identifiers.org/clinvar/155903 ^@ NM_021926.3(ALX4):c.673C>G (p.Gln225Glu) http://identifiers.org/clinvar/155904 ^@ NM_021926.3(ALX4):c.976_985delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326Leufs) http://identifiers.org/clinvar/155905 ^@ NM_024735.4(FBXO31):c.847_852delTGCCTGinsA (p.Cys283Asnfs) http://identifiers.org/clinvar/351377 ^@ NM_001018077.1(NR3C1):c.68G>A (p.Arg23Lys) http://identifiers.org/clinvar/155907 ^@ NM_007315.3(STAT1):c.2018A>G (p.Lys673Arg) http://identifiers.org/clinvar/155908 ^@ NM_007315.3(STAT1):c.1909A>G (p.Lys637Glu) http://identifiers.org/clinvar/155909 ^@ IL12RB1, 3-BP DEL, EX10 http://identifiers.org/clinvar/155912 ^@ PTPRF, 2-BP DEL, 1847TG http://identifiers.org/clinvar/155921 ^@ LMBR1, 404G-C http://identifiers.org/clinvar/155922 ^@ LMBR1, 73-KB DUP http://identifiers.org/clinvar/155923 ^@ LMBR1, 406A-G http://identifiers.org/clinvar/155924 ^@ NM_014753.3(BMS1):c.2789G>A (p.Arg930His) http://identifiers.org/clinvar/155926 ^@ NM_002067.4(GNA11):c.179G>T (p.Arg60Leu) http://identifiers.org/clinvar/155928 ^@ PAX2, GLY189ARG http://identifiers.org/clinvar/155929 ^@ NM_003990.4(PAX2):c.167G>A (p.Arg56Gln) http://identifiers.org/clinvar/155930 ^@ NM_003331.4(TYK2):c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer) http://identifiers.org/clinvar/155937 ^@ NM_000488.3(SERPINC1):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/155938 ^@ NM_000488.3(SERPINC1):c.881G>T (p.Arg294Leu) http://identifiers.org/clinvar/155939 ^@ NM_006194.3(PAX9):c.336C>G (p.Cys112Trp) http://identifiers.org/clinvar/155940 ^@ NM_003238.4(TGFB2):c.932+136C>T http://identifiers.org/clinvar/155941 ^@ NM_130838.1(UBE3A):c.750T>A (p.Tyr250Ter) http://identifiers.org/clinvar/155942 ^@ NM_130838.1(UBE3A):c.961C>T (p.Gln321Ter) http://identifiers.org/clinvar/155943 ^@ NM_130838.1(UBE3A):c.972_978delTACTTAT (p.Thr325Lysfs) http://identifiers.org/clinvar/155944 ^@ NM_130838.1(UBE3A):c.1067dupA (p.Tyr356Terfs) http://identifiers.org/clinvar/155945 ^@ NM_130838.1(UBE3A):c.1076dupA (p.Asn359Lysfs) http://identifiers.org/clinvar/155946 ^@ NM_130838.1(UBE3A):c.1114G>T (p.Glu372Ter) http://identifiers.org/clinvar/155947 ^@ NM_130838.1(UBE3A):c.1201C>T (p.Arg401Ter) http://identifiers.org/clinvar/155948 ^@ NM_130838.1(UBE3A):c.1270G>T (p.Glu424Ter) http://identifiers.org/clinvar/155949 ^@ NM_130838.1(UBE3A):c.1285G>T (p.Glu429Ter) http://identifiers.org/clinvar/155950 ^@ NM_130838.1(UBE3A):c.1355dupT (p.Ser453Leufs) http://identifiers.org/clinvar/155951 ^@ NM_130838.1(UBE3A):c.1361_1362delTT (p.Phe454Tyrfs) http://identifiers.org/clinvar/155952 ^@ NM_130838.1(UBE3A):c.1371T>A (p.Cys457Ter) http://identifiers.org/clinvar/155953 ^@ NM_130838.1(UBE3A):c.1387delG (p.Ala463Leufs) http://identifiers.org/clinvar/155954 ^@ NM_130838.1(UBE3A):c.1505_1506delTC (p.Leu502Glnfs) http://identifiers.org/clinvar/155955 ^@ NM_130838.1(UBE3A):c.1537dupG (p.Ala513Glyfs) http://identifiers.org/clinvar/155956 ^@ NM_130838.1(UBE3A):c.1571dupA (p.Asn524Lysfs) http://identifiers.org/clinvar/155957 ^@ NM_130838.1(UBE3A):c.1608dupT (p.Glu537Terfs) http://identifiers.org/clinvar/155958 ^@ NM_130838.1(UBE3A):c.1639_1642dupGTTT (p.Ser548Cysfs) http://identifiers.org/clinvar/155959 ^@ NM_130838.1(UBE3A):c.1730G>A (p.Trp577Ter) http://identifiers.org/clinvar/155960 ^@ NM_130838.1(UBE3A):c.1814_1824delTACTGGATGTA (p.Ile605Thrfs) http://identifiers.org/clinvar/155961 ^@ NM_130838.1(UBE3A):c.1912_1913delAG (p.Ser638Phefs) http://identifiers.org/clinvar/155962 ^@ NM_130838.1(UBE3A):c.1956_1963delCATGATGA (p.Met653Hisfs) http://identifiers.org/clinvar/155963 ^@ NM_130838.1(UBE3A):c.1957dupA (p.Met653Asnfs) http://identifiers.org/clinvar/155964 ^@ NM_130838.1(UBE3A):c.1972C>T (p.Gln658Ter) http://identifiers.org/clinvar/155965 ^@ NM_130838.1(UBE3A):c.1972delC (p.Gln658Argfs) http://identifiers.org/clinvar/155966 ^@ NM_130838.1(UBE3A):c.2102_2103insTATT (p.Lys701Asnfs) http://identifiers.org/clinvar/155967 ^@ NM_130838.1(UBE3A):c.2170_2174dupAAGTA (p.Tyr725Terfs) http://identifiers.org/clinvar/155968 ^@ NM_130838.1(UBE3A):c.2177T>A (p.Leu726Ter) http://identifiers.org/clinvar/155969 ^@ NM_130838.1(UBE3A):c.2186delC (p.Pro729Glnfs) http://identifiers.org/clinvar/155970 ^@ NM_130838.1(UBE3A):c.2233C>T (p.Gln745Ter) http://identifiers.org/clinvar/155971 ^@ NM_130838.1(UBE3A):c.2245G>T (p.Glu749Ter) http://identifiers.org/clinvar/155972 ^@ NM_130838.1(UBE3A):c.2245delG (p.Glu749Lysfs) http://identifiers.org/clinvar/155973 ^@ NM_130838.1(UBE3A):c.2247_2251dupAACTA (p.Thr751Lysfs) http://identifiers.org/clinvar/155974 ^@ NM_130838.1(UBE3A):c.2289dupG (p.Ile764Aspfs) http://identifiers.org/clinvar/155975 ^@ NM_130838.1(UBE3A):c.2344_2345delTT (p.Phe782Leufs) http://identifiers.org/clinvar/155976 ^@ NM_130838.1(UBE3A):c.2370_2373delCAGA (p.Asp790Glufs) http://identifiers.org/clinvar/155977 ^@ NM_130838.1(UBE3A):c.2463_2521dup59 (p.Lys841Ilefs) http://identifiers.org/clinvar/155978 ^@ NM_130838.1(UBE3A):c.2474T>A (p.Leu825Ter) http://identifiers.org/clinvar/155979 ^@ NM_130838.1(UBE3A):c.2478delT (p.Pro827Argfs) http://identifiers.org/clinvar/155980 ^@ NM_130838.1(UBE3A):c.2487_2554del68 (p.Ser830Valfs) http://identifiers.org/clinvar/155981 ^@ NM_130838.1(UBE3A):c.2489C>G (p.Ser830Ter) http://identifiers.org/clinvar/155982 ^@ NM_130838.1(UBE3A):c.2497_2500dupGAAA (p.Lys834Argfs) http://identifiers.org/clinvar/155983 ^@ NM_130838.1(UBE3A):c.2503_2506dupCTTA (p.Lys836Thrfs) http://identifiers.org/clinvar/155984 ^@ NM_130838.1(UBE3A):c.2507_2508delAA (p.Lys836Argfs) http://identifiers.org/clinvar/155985 ^@ NM_130838.1(UBE3A):c.2556_*6delGTAAAACAAA http://identifiers.org/clinvar/155986 ^@ NM_130838.1(UBE3A):c.1633G>A (p.Gly545Arg) http://identifiers.org/clinvar/155987 ^@ NM_130838.1(UBE3A):c.1745_1747delCTT (p.Ser582del) http://identifiers.org/clinvar/155988 ^@ NM_130838.1(UBE3A):c.1750G>C (p.Glu584Gln) http://identifiers.org/clinvar/155989 ^@ NM_130838.1(UBE3A):c.1967C>T (p.Thr656Ile) http://identifiers.org/clinvar/155990 ^@ NM_130838.1(UBE3A):c.2069T>G (p.Phe690Cys) http://identifiers.org/clinvar/155991 ^@ NM_130838.1(UBE3A):c.2406_2408delGAT (p.Met802del) http://identifiers.org/clinvar/155992 ^@ NM_130838.1(UBE3A):c.2480C>T (p.Pro827Leu) http://identifiers.org/clinvar/155993 ^@ NM_130838.1(UBE3A):c.2487_2507dup21 (p.Leu835_Lys836insAsnSerSerLysGluLysLeu) http://identifiers.org/clinvar/155994 ^@ NM_130838.1(UBE3A):c.317C>A (p.Thr106Lys) http://identifiers.org/clinvar/155995 ^@ NM_130838.1(UBE3A):c.710T>A (p.Leu237His) http://identifiers.org/clinvar/155996 ^@ NM_130838.1(UBE3A):c.1304T>C (p.Leu435Pro) http://identifiers.org/clinvar/155997 ^@ NM_130838.1(UBE3A):c.1430G>C (p.Arg477Pro) http://identifiers.org/clinvar/155998 ^@ NM_130838.1(UBE3A):c.1697T>A (p.Met566Lys) http://identifiers.org/clinvar/156000 ^@ NM_000060.4(BTD):c.257T>G (p.Met86Arg) http://identifiers.org/clinvar/156001 ^@ NM_000060.4(BTD):c.455C>G (p.Thr152Arg) http://identifiers.org/clinvar/156002 ^@ NM_000060.4(BTD):c.683A>G (p.Asp228Gly) http://identifiers.org/clinvar/156003 ^@ NM_000060.4(BTD):c.701C>T (p.Thr234Ile) http://identifiers.org/clinvar/156004 ^@ NM_000060.4(BTD):c.898A>C (p.Asn300His) http://identifiers.org/clinvar/156005 ^@ NM_000060.4(BTD):c.1372dupT (p.Cys458Leufs) http://identifiers.org/clinvar/156006 ^@ NM_000060.4(BTD):c.310-15delT http://identifiers.org/clinvar/156007 ^@ NM_017617.4(NOTCH1):c.4487G>A (p.Cys1496Tyr) http://identifiers.org/clinvar/156008 ^@ NM_181523.2(PIK3R1):c.1425+1G>T http://identifiers.org/clinvar/156009 ^@ NM_181523.2(PIK3R1):c.1425+1G>C http://identifiers.org/clinvar/156010 ^@ NM_005257.5(GATA6):c.712G>T (p.Gly238Ter) http://identifiers.org/clinvar/156011 ^@ NM_005257.5(GATA6):c.1072delG (p.Val358Cysfs) http://identifiers.org/clinvar/156013 ^@ NM_014629.3(ARHGEF10):c.1013G>C (p.Arg338Thr) http://identifiers.org/clinvar/156014 ^@ NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) http://identifiers.org/clinvar/156015 ^@ NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) http://identifiers.org/clinvar/156016 ^@ NM_014845.5(FIG4):c.290-2A>T http://identifiers.org/clinvar/156017 ^@ NM_014845.5(FIG4):c.2348A>T (p.Asp783Val) http://identifiers.org/clinvar/156022 ^@ NM_005554.3(KRT6A):c.1460-2A>C http://identifiers.org/clinvar/156024 ^@ NM_005557.3(KRT16):c.373_374delAAinsGG (p.Asn125Gly) http://identifiers.org/clinvar/156025 ^@ NM_004990.3(MARS):c.1852C>T (p.Arg618Cys) http://identifiers.org/clinvar/156026 ^@ NM_000860.5(HPGD):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/156027 ^@ NM_000860.5(HPGD):c.310_311delCT (p.Leu104Alafs) http://identifiers.org/clinvar/156028 ^@ NM_001039141.2(TRIOBP):c.815C>A (p.Thr272Lys) http://identifiers.org/clinvar/156029 ^@ NM_015404.3(WHRN):c.1469G>A (p.Arg490His) http://identifiers.org/clinvar/156030 ^@ NM_153700.2(STRC):c.179T>C (p.Phe60Ser) http://identifiers.org/clinvar/156045 ^@ NM_004992.3(MECP2):c.26+2T>A http://identifiers.org/clinvar/156046 ^@ NM_004992.3(MECP2):c.27-2A>G http://identifiers.org/clinvar/156047 ^@ NM_004992.3(MECP2):c.27-55G>A http://identifiers.org/clinvar/156048 ^@ NM_004992.3(MECP2):c.27-6C>G http://identifiers.org/clinvar/156049 ^@ NM_004992.3(MECP2):c.27-8C>G http://identifiers.org/clinvar/156050 ^@ NM_004992.3(MECP2):c.27-9A>G http://identifiers.org/clinvar/156051 ^@ NM_004992.3(MECP2):c.377+18C>G http://identifiers.org/clinvar/156052 ^@ NM_004992.3(MECP2):c.377+1G>A http://identifiers.org/clinvar/156053 ^@ NM_004992.3(MECP2):c.377+1G>T http://identifiers.org/clinvar/156054 ^@ NM_004992.3(MECP2):c.377+22C>G http://identifiers.org/clinvar/156055 ^@ NM_004992.3(MECP2):c.377+24C>A http://identifiers.org/clinvar/156056 ^@ NM_004992.3(MECP2):c.377+266T>C http://identifiers.org/clinvar/156057 ^@ NM_004992.3(MECP2):c.377+28A>G http://identifiers.org/clinvar/156058 ^@ NM_004992.3(MECP2):c.377+2T>G http://identifiers.org/clinvar/156059 ^@ NM_001110792.1(MECP2):c.413+6_413+9delTAAG http://identifiers.org/clinvar/156060 ^@ NM_004992.3(MECP2):c.377+95G>A http://identifiers.org/clinvar/156061 ^@ NM_004992.3(MECP2):c.378-109A>G http://identifiers.org/clinvar/156062 ^@ NM_004992.3(MECP2):c.378-14G>A http://identifiers.org/clinvar/156063 ^@ NM_004992.3(MECP2):c.378-17delT http://identifiers.org/clinvar/156064 ^@ NM_004992.3(MECP2):c.378-241C>T http://identifiers.org/clinvar/156065 ^@ NM_004992.3(MECP2):c.378-2A>C http://identifiers.org/clinvar/156066 ^@ NM_004992.3(MECP2):c.378-2A>G http://identifiers.org/clinvar/156067 ^@ NM_004992.3(MECP2):c.378-2A>T http://identifiers.org/clinvar/156068 ^@ NM_004992.3(MECP2):c.378-3C>G http://identifiers.org/clinvar/156069 ^@ NM_001110792.1(MECP2):c.414-3_419delCAGTCCCCA http://identifiers.org/clinvar/156070 ^@ NM_004992.3(MECP2):c.378-61C>G http://identifiers.org/clinvar/156071 ^@ NM_001110792.1(MECP2):c.414-74C>G http://identifiers.org/clinvar/156072 ^@ NM_004992.3(MECP2):c.378-74C>T http://identifiers.org/clinvar/156073 ^@ NM_003159.2(CDKL5):c.100-2A>G http://identifiers.org/clinvar/156074 ^@ NM_003159.2(CDKL5):c.145+2T>C http://identifiers.org/clinvar/156075 ^@ NM_003159.2(CDKL5):c.145+4_145+5AT(11_13) http://identifiers.org/clinvar/156076 ^@ NM_003159.2(CDKL5):c.2046+79G>A http://identifiers.org/clinvar/156077 ^@ NM_003159.2(CDKL5):c.2047-1G>A http://identifiers.org/clinvar/156078 ^@ NM_003159.2(CDKL5):c.2152+48C>T http://identifiers.org/clinvar/156079 ^@ NM_003159.2(CDKL5):c.2376+118T>A http://identifiers.org/clinvar/156080 ^@ NM_003159.2(CDKL5):c.2376+1G>A http://identifiers.org/clinvar/156081 ^@ NM_003159.2(CDKL5):c.2376+1G>C http://identifiers.org/clinvar/156082 ^@ NM_003159.2(CDKL5):c.2376+5G>A http://identifiers.org/clinvar/156083 ^@ NM_003159.2(CDKL5):c.2377-31T>C http://identifiers.org/clinvar/156084 ^@ NM_003159.2(CDKL5):c.283-43G>A http://identifiers.org/clinvar/156085 ^@ NM_003159.2(CDKL5):c.283-99C>A http://identifiers.org/clinvar/156086 ^@ NM_003159.2(CDKL5):c.403+49_403+53delTTAAG http://identifiers.org/clinvar/156087 ^@ NM_003159.2(CDKL5):c.404-1G>T http://identifiers.org/clinvar/156088 ^@ NM_003159.2(CDKL5):c.463+1G>A http://identifiers.org/clinvar/156089 ^@ NM_003159.2(CDKL5):c.463+22T>C http://identifiers.org/clinvar/156090 ^@ NM_003159.2(CDKL5):c.464-2A>G http://identifiers.org/clinvar/156091 ^@ NM_003159.2(CDKL5):c.464-40_464-37delCTTT http://identifiers.org/clinvar/156092 ^@ NM_003159.2(CDKL5):c.554+11G>A http://identifiers.org/clinvar/156093 ^@ NM_003159.2(CDKL5):c.64+2delT http://identifiers.org/clinvar/156094 ^@ NM_003159.2(CDKL5):c.978-23T>C http://identifiers.org/clinvar/156095 ^@ NM_003159.2(CDKL5):c.978-2A>G http://identifiers.org/clinvar/156097 ^@ NM_003159.2(CDKL5):c.99+1G>T http://identifiers.org/clinvar/156098 ^@ NM_003159.2(CDKL5):c.99+29T>G http://identifiers.org/clinvar/156099 ^@ NM_002775.4(HTRA1):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/156100 ^@ NM_002775.4(HTRA1):c.854C>T (p.Pro285Leu) http://identifiers.org/clinvar/156101 ^@ NM_002775.4(HTRA1):c.1091T>C (p.Leu364Pro) http://identifiers.org/clinvar/180747 ^@ NM_002775.4(HTRA1):c.126delG (p.Glu42Aspfs) http://identifiers.org/clinvar/180746 ^@ NM_002775.4(HTRA1):c.961G>A (p.Ala321Thr) http://identifiers.org/clinvar/156103 ^@ NM_000639.2(FASLG):c.263delT (p.Phe88Serfs) http://identifiers.org/clinvar/156105 ^@ NM_021870.2(FGG):c.1210T>C (p.Ser404Pro) http://identifiers.org/clinvar/156106 ^@ NM_014191.3(SCN8A):c.4850G>A (p.Arg1617Gln) http://identifiers.org/clinvar/156107 ^@ NM_014191.3(SCN8A):c.4398C>A (p.Asn1466Lys) http://identifiers.org/clinvar/156108 ^@ NM_014191.3(SCN8A):c.4397A>C (p.Asn1466Thr) http://identifiers.org/clinvar/156109 ^@ NM_024582.4(FAT4):c.7041_7046dupTGGAAC (p.Thr2349_Ile2350insGlyThr) http://identifiers.org/clinvar/156110 ^@ NM_024582.4(FAT4):c.1195delC (p.Leu399Serfs) http://identifiers.org/clinvar/156111 ^@ NM_001291303.1(FAT4):c.12851C>T (p.Ser4284Phe) http://identifiers.org/clinvar/156112 ^@ NM_001291303.1(FAT4):c.7204A>C (p.Arg2402=) http://identifiers.org/clinvar/156113 ^@ NM_032492.3(JAGN1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/156114 ^@ NM_032492.3(JAGN1):c.130C>T (p.His44Tyr) http://identifiers.org/clinvar/156115 ^@ NM_032492.3(JAGN1):c.63G>T (p.Glu21Asp) http://identifiers.org/clinvar/156116 ^@ NM_032492.3(JAGN1):c.485A>G (p.Gln162Arg) http://identifiers.org/clinvar/156117 ^@ NM_032492.3(JAGN1):c.35_43delCCGACGGCA (p.Thr12_Gly14del) http://identifiers.org/clinvar/242641 ^@ NM_018136.4(ASPM):c.8098C>T (p.Arg2700Ter) http://identifiers.org/clinvar/157773 ^@ NM_018136.4(ASPM):c.10168C>T (p.Arg3390Ter) http://identifiers.org/clinvar/156119 ^@ NM_130838.1(UBE3A):c.2+20G>A http://identifiers.org/clinvar/156120 ^@ NM_130838.1(UBE3A):c.349T>C (p.Cys117Arg) http://identifiers.org/clinvar/156121 ^@ NM_130838.1(UBE3A):c.809A>C (p.Asn270Thr) http://identifiers.org/clinvar/156122 ^@ NM_130838.1(UBE3A):c.1629_1631delTGA (p.Asp543del) http://identifiers.org/clinvar/156123 ^@ NM_130838.1(UBE3A):c.2221-42T>C http://identifiers.org/clinvar/156124 ^@ NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile) http://identifiers.org/clinvar/156125 ^@ NM_130838.1(UBE3A):c.2294+20A>G http://identifiers.org/clinvar/156126 ^@ NM_130838.1(UBE3A):c.2439-31T>G http://identifiers.org/clinvar/156127 ^@ NM_130838.1(UBE3A):c.2439-37dup http://identifiers.org/clinvar/156128 ^@ NM_130838.1(UBE3A):c.2439-40C>T http://identifiers.org/clinvar/156129 ^@ NM_130838.1(UBE3A):c.301+29T>C http://identifiers.org/clinvar/156130 ^@ NM_130838.1(UBE3A):c.301+30G>A http://identifiers.org/clinvar/156131 ^@ NM_130838.1(UBE3A):c.398T>G (p.Val133Gly) http://identifiers.org/clinvar/156132 ^@ NM_130838.1(UBE3A):c.1004G>C (p.Ser335Thr) http://identifiers.org/clinvar/156133 ^@ NM_130838.1(UBE3A):c.1434G>A (p.Met478Ile) http://identifiers.org/clinvar/156134 ^@ NM_130838.1(UBE3A):c.1548+34T>C http://identifiers.org/clinvar/156135 ^@ NM_130838.1(UBE3A):c.1693+32G>A http://identifiers.org/clinvar/156136 ^@ NM_130838.1(UBE3A):c.1762C>G (p.Gln588Glu) http://identifiers.org/clinvar/156137 ^@ NM_130838.1(UBE3A):c.1763A>C (p.Gln588Pro) http://identifiers.org/clinvar/156138 ^@ NM_130838.1(UBE3A):c.2018T>G (p.Leu673Arg) http://identifiers.org/clinvar/156139 ^@ NM_130838.1(UBE3A):c.3-19_3-17delGTT http://identifiers.org/clinvar/156140 ^@ NM_130838.1(UBE3A):c.611T>C (p.Leu204Ser) http://identifiers.org/clinvar/156141 ^@ NM_130838.1(UBE3A):c.755A>G (p.Asn252Ser) http://identifiers.org/clinvar/156142 ^@ NM_130838.1(UBE3A):c.855A>G (p.Leu285=) http://identifiers.org/clinvar/156143 ^@ NM_130838.1(UBE3A):c.2031T>C (p.Gly677=) http://identifiers.org/clinvar/156144 ^@ NM_130838.1(UBE3A):c.2036A>C (p.Lys679Thr) http://identifiers.org/clinvar/156145 ^@ NM_130838.1(UBE3A):c.2064+19T>G http://identifiers.org/clinvar/156146 ^@ NM_130838.1(UBE3A):c.2439-34delG http://identifiers.org/clinvar/156147 ^@ NM_130838.1(UBE3A):c.*13_*17delCAAAA http://identifiers.org/clinvar/156148 ^@ NM_130838.1(UBE3A):c.*46delA http://identifiers.org/clinvar/156149 ^@ NM_032682.5(FOXP1):c.1267_1268delGT (p.Val423Hisfs) http://identifiers.org/clinvar/156152 ^@ NM_000457.4(HNF4A):c.253C>T (p.Arg85Trp) http://identifiers.org/clinvar/156153 ^@ NM_003002.3(SDHD):c.205G>A (p.Glu69Lys) http://identifiers.org/clinvar/156154 ^@ NM_003002.3(SDHD):c.479G>T (p.Ter160Leu) http://identifiers.org/clinvar/156155 ^@ NM_022051.2(EGLN1):c.380G>C (p.Cys127Ser) http://identifiers.org/clinvar/242640 ^@ NM_022051.2(EGLN1):c.380G>C (p.Cys127Ser) http://identifiers.org/clinvar/156156 ^@ NM_178517.4(PIGW):c.211A>C (p.Thr71Pro) http://identifiers.org/clinvar/156157 ^@ NM_178517.4(PIGW):c.499A>G (p.Met167Val) http://identifiers.org/clinvar/156158 ^@ NM_004387.3(NKX2-5):c.461A>G (p.Glu154Gly) http://identifiers.org/clinvar/156159 ^@ NM_004387.3(NKX2-5):c.618delG (p.Leu207Cysfs) http://identifiers.org/clinvar/156160 ^@ NM_004387.3(NKX2-5):c.721_728delTACGGCGT (p.Tyr241Glyfs) http://identifiers.org/clinvar/156161 ^@ NM_004387.3(NKX2-5):c.809G>A (p.Cys270Tyr) http://identifiers.org/clinvar/156162 ^@ NM_015278.4(SASH1):c.1849G>A (p.Glu617Lys) http://identifiers.org/clinvar/156163 ^@ NM_000059.3(BRCA2):c.1340C>T (p.Pro447Leu) http://identifiers.org/clinvar/156164 ^@ NM_000059.3(BRCA2):c.1444C>T (p.Leu482Phe) http://identifiers.org/clinvar/156165 ^@ NM_000059.3(BRCA2):c.2171A>G (p.Lys724Arg) http://identifiers.org/clinvar/156166 ^@ NM_000059.3(BRCA2):c.2391G>A (p.Lys797=) http://identifiers.org/clinvar/156167 ^@ NM_000059.3(BRCA2):c.3715A>G (p.Lys1239Glu) http://identifiers.org/clinvar/156168 ^@ NM_000059.3(BRCA2):c.4391C>T (p.Ser1464Phe) http://identifiers.org/clinvar/156169 ^@ NM_000059.3(BRCA2):c.517-2A>C http://identifiers.org/clinvar/156170 ^@ NM_000059.3(BRCA2):c.5270A>G (p.Tyr1757Cys) http://identifiers.org/clinvar/156171 ^@ NM_000059.3(BRCA2):c.5386delG (p.Asp1796Metfs) http://identifiers.org/clinvar/156172 ^@ NM_000059.3(BRCA2):c.6044T>A (p.Leu2015Ter) http://identifiers.org/clinvar/156173 ^@ NM_000059.3(BRCA2):c.7493A>C (p.Lys2498Thr) http://identifiers.org/clinvar/156174 ^@ NM_000059.3(BRCA2):c.7618-21G>T http://identifiers.org/clinvar/156175 ^@ NM_000059.3(BRCA2):c.8068G>A (p.Val2690Ile) http://identifiers.org/clinvar/156176 ^@ NM_000059.3(BRCA2):c.8262T>G (p.His2754Gln) http://identifiers.org/clinvar/156177 ^@ NM_000059.3(BRCA2):c.8929T>A (p.Tyr2977Asn) http://identifiers.org/clinvar/156178 ^@ NM_000059.3(BRCA2):c.9167A>T (p.His3056Leu) http://identifiers.org/clinvar/156179 ^@ NM_000059.3(BRCA2):c.9257G>C (p.Gly3086Ala) http://identifiers.org/clinvar/156180 ^@ NM_000059.3(BRCA2):c.9433G>A (p.Val3145Met) http://identifiers.org/clinvar/156181 ^@ NM_000059.3(BRCA2):c.9722C>T (p.Ser3241Phe) http://identifiers.org/clinvar/156182 ^@ NM_007294.3(BRCA1):c.1234G>A (p.Val412Ile) http://identifiers.org/clinvar/156183 ^@ NM_007294.3(BRCA1):c.1295T>C (p.Leu432Pro) http://identifiers.org/clinvar/156184 ^@ NM_007294.3(BRCA1):c.1612_1616delCAAAC (p.Gln538Glyfs) http://identifiers.org/clinvar/156185 ^@ NM_007294.3(BRCA1):c.1975C>G (p.Pro659Ala) http://identifiers.org/clinvar/156186 ^@ NM_007294.3(BRCA1):c.2342A>C (p.Glu781Ala) http://identifiers.org/clinvar/156187 ^@ NM_007294.3(BRCA1):c.2456C>G (p.Ser819Cys) http://identifiers.org/clinvar/156188 ^@ NM_007294.3(BRCA1):c.2690C>T (p.Pro897Leu) http://identifiers.org/clinvar/156189 ^@ NM_007294.3(BRCA1):c.273_274delTG (p.Ala92Phefs) http://identifiers.org/clinvar/156190 ^@ NM_007294.3(BRCA1):c.2980T>A (p.Cys994Ser) http://identifiers.org/clinvar/156191 ^@ NM_007294.3(BRCA1):c.3170G>A (p.Ser1057Asn) http://identifiers.org/clinvar/156192 ^@ NM_007294.3(BRCA1):c.3736A>G (p.Thr1246Ala) http://identifiers.org/clinvar/156193 ^@ NM_007294.3(BRCA1):c.373A>G (p.Ile125Val) http://identifiers.org/clinvar/156194 ^@ NM_007294.3(BRCA1):c.42C>T (p.Val14=) http://identifiers.org/clinvar/156196 ^@ NM_007294.3(BRCA1):c.5401G>A (p.Gly1801Ser) http://identifiers.org/clinvar/156197 ^@ NM_007294.3(BRCA1):c.5407-16C>T http://identifiers.org/clinvar/156199 ^@ NP_000050.2(BRCA2):p.Ser2022Ter http://identifiers.org/clinvar/156200 ^@ NP_000050.2(BRCA2):p.Trp2990Ter http://identifiers.org/clinvar/156203 ^@ NM_001080478.2(LRRC14B):c.1189G>A (p.Gly397Arg) http://identifiers.org/clinvar/156204 ^@ NM_001172713.1(GOLGA4):c.6240A>T (p.Arg2080Ser) http://identifiers.org/clinvar/156205 ^@ NM_194293.2(XIRP1):c.352G>A (p.Val118Met) http://identifiers.org/clinvar/156206 ^@ NM_004947.4(DOCK3):c.1153C>T (p.Arg385Cys) http://identifiers.org/clinvar/156207 ^@ NM_020998.3(MST1):c.55C>T (p.Pro19Ser) http://identifiers.org/clinvar/156208 ^@ NM_024830.4(LPCAT1):c.1235G>T (p.Cys412Phe) http://identifiers.org/clinvar/156209 ^@ NM_033027.3(CSRNP1):c.1432C>T (p.Leu478Phe) http://identifiers.org/clinvar/156210 ^@ NM_173658.2(ZNF660):c.721C>T (p.Arg241Cys) http://identifiers.org/clinvar/156212 ^@ NM_017617.4(NOTCH1):c.5965G>A (p.Asp1989Asn) http://identifiers.org/clinvar/156213 ^@ NM_017617.4(NOTCH1):c.743-1G>T http://identifiers.org/clinvar/156214 ^@ NM_017617.4(NOTCH1):c.1285T>C (p.Cys429Arg) http://identifiers.org/clinvar/156216 ^@ NM_024915.3(GRHL2):c.1192T>C (p.Tyr398His) http://identifiers.org/clinvar/156217 ^@ NM_024915.3(GRHL2):c.1445T>A (p.Ile482Lys) http://identifiers.org/clinvar/156218 ^@ NM_001008388.4(CISD2):c.(104_304)-84_318+724del http://identifiers.org/clinvar/156219 ^@ NM_001024613.3(FEZF1):c.832C>T (p.His278Tyr) http://identifiers.org/clinvar/156220 ^@ NM_001024613.3(FEZF1):c.653delT (p.Phe218Serfs) http://identifiers.org/clinvar/156221 ^@ NM_018685.4(ANLN):c.1291C>T (p.Arg431Cys) http://identifiers.org/clinvar/156224 ^@ NM_183353.2(RLIM):c.1067A>G (p.Tyr356Cys) http://identifiers.org/clinvar/156228 ^@ NM_201590.2(CACNB2):c.32C>T (p.Thr11Ile) http://identifiers.org/clinvar/156229 ^@ NM_001134665.2(TRMT10A):c.379C>T (p.Arg127Ter) http://identifiers.org/clinvar/202790 ^@ NM_001256850.1(TTN):c.60124C>A (p.Pro20042Thr) http://identifiers.org/clinvar/202399 ^@ NM_001256850.1(TTN):c.60076C>T (p.Arg20026Ter) http://identifiers.org/clinvar/202789 ^@ NM_001256850.1(TTN):c.59975G>A (p.Arg19992Gln) http://identifiers.org/clinvar/202788 ^@ NM_001256850.1(TTN):c.59758G>A (p.Gly19920Ser) http://identifiers.org/clinvar/202457 ^@ NM_001256850.1(TTN):c.59757dupC (p.Gly19920Argfs) http://identifiers.org/clinvar/202786 ^@ NM_001256850.1(TTN):c.59731A>G (p.Ile19911Val) http://identifiers.org/clinvar/202785 ^@ NM_001256850.1(TTN):c.59671A>G (p.Lys19891Glu) http://identifiers.org/clinvar/202784 ^@ NM_001256850.1(TTN):c.59531G>A (p.Arg19844Gln) http://identifiers.org/clinvar/202782 ^@ NM_001256850.1(TTN):c.59410A>G (p.Asn19804Asp) http://identifiers.org/clinvar/202781 ^@ NM_001256850.1(TTN):c.59404G>A (p.Ala19802Thr) http://identifiers.org/clinvar/202456 ^@ NM_001256850.1(TTN):c.59326_59330dupGAGTA (p.Tyr19777Terfs) http://identifiers.org/clinvar/202780 ^@ NM_001256850.1(TTN):c.59272G>A (p.Asp19758Asn) http://identifiers.org/clinvar/202779 ^@ NM_001256850.1(TTN):c.58870G>A (p.Asp19624Asn) http://identifiers.org/clinvar/202319 ^@ NM_001256850.1(TTN):c.58820T>C (p.Leu19607Pro) http://identifiers.org/clinvar/202778 ^@ NM_001256850.1(TTN):c.58718A>C (p.Asp19573Ala) http://identifiers.org/clinvar/202318 ^@ NM_133378.4(TTN):c.55922G>A (p.Arg18641Gln) http://identifiers.org/clinvar/202398 ^@ NM_001256850.1(TTN):c.58702C>T (p.Arg19568Ter) http://identifiers.org/clinvar/202777 ^@ NM_001256850.1(TTN):c.58658T>C (p.Leu19553Pro) http://identifiers.org/clinvar/202776 ^@ NM_001256850.1(TTN):c.58654C>T (p.Arg19552Cys) http://identifiers.org/clinvar/202775 ^@ NM_001256850.1(TTN):c.58631T>C (p.Ile19544Thr) http://identifiers.org/clinvar/202773 ^@ NM_001256850.1(TTN):c.58430G>A (p.Arg19477Gln) http://identifiers.org/clinvar/202455 ^@ NM_001256850.1(TTN):c.58280delC (p.Pro19427Glnfs) http://identifiers.org/clinvar/202771 ^@ NM_001256850.1(TTN):c.58262T>G (p.Ile19421Arg) http://identifiers.org/clinvar/202770 ^@ NM_001256850.1(TTN):c.58208T>C (p.Ile19403Thr) http://identifiers.org/clinvar/202769 ^@ NM_001256850.1(TTN):c.58186C>T (p.Arg19396Cys) http://identifiers.org/clinvar/202768 ^@ NM_001256850.1(TTN):c.58142G>T (p.Arg19381Leu) http://identifiers.org/clinvar/202518 ^@ NM_001256850.1(TTN):c.58102C>T (p.Arg19368Ter) http://identifiers.org/clinvar/202767 ^@ NM_001256850.1(TTN):c.58086G>C (p.Lys19362Asn) http://identifiers.org/clinvar/202766 ^@ NM_001256850.1(TTN):c.58072T>G (p.Phe19358Val) http://identifiers.org/clinvar/202317 ^@ NM_001256850.1(TTN):c.57968C>A (p.Pro19323His) http://identifiers.org/clinvar/202765 ^@ NM_001256850.1(TTN):c.57863T>C (p.Ile19288Thr) http://identifiers.org/clinvar/202764 ^@ NM_001256850.1(TTN):c.57800G>A (p.Arg19267Gln) http://identifiers.org/clinvar/202763 ^@ NM_001256850.1(TTN):c.57584G>A (p.Arg19195Gln) http://identifiers.org/clinvar/202762 ^@ NM_001256850.1(TTN):c.57509A>G (p.Asp19170Gly) http://identifiers.org/clinvar/202761 ^@ NM_001256850.1(TTN):c.57502G>A (p.Ala19168Thr) http://identifiers.org/clinvar/202316 ^@ NM_001256850.1(TTN):c.57394C>A (p.Leu19132Met) http://identifiers.org/clinvar/202760 ^@ NM_001256850.1(TTN):c.57383C>A (p.Pro19128Gln) http://identifiers.org/clinvar/202759 ^@ NM_001256850.1(TTN):c.57349G>A (p.Glu19117Lys) http://identifiers.org/clinvar/202315 ^@ NM_001256850.1(TTN):c.57224A>T (p.Glu19075Val) http://identifiers.org/clinvar/202758 ^@ NM_001256850.1(TTN):c.56853C>A (p.Asn18951Lys) http://identifiers.org/clinvar/202757 ^@ NM_001256850.1(TTN):c.56665C>A (p.Pro18889Thr) http://identifiers.org/clinvar/202756 ^@ NM_001256850.1(TTN):c.56561G>A (p.Arg18854His) http://identifiers.org/clinvar/202755 ^@ NM_001256850.1(TTN):c.56533A>G (p.Ile18845Val) http://identifiers.org/clinvar/202754 ^@ NM_001256850.1(TTN):c.56173T>A (p.Cys18725Ser) http://identifiers.org/clinvar/202277 ^@ NM_001256850.1(TTN):c.55698T>C (p.Tyr18566=) http://identifiers.org/clinvar/202753 ^@ NM_001256850.1(TTN):c.55683C>G (p.Ser18561Arg) http://identifiers.org/clinvar/202752 ^@ NM_001256850.1(TTN):c.55568T>A (p.Val18523Glu) http://identifiers.org/clinvar/202751 ^@ NM_001256850.1(TTN):c.55422T>A (p.Asp18474Glu) http://identifiers.org/clinvar/202750 ^@ NM_001256850.1(TTN):c.55330A>T (p.Ile18444Phe) http://identifiers.org/clinvar/202749 ^@ NM_001256850.1(TTN):c.55274C>T (p.Pro18425Leu) http://identifiers.org/clinvar/202748 ^@ NM_001256850.1(TTN):c.55223G>A (p.Arg18408His) http://identifiers.org/clinvar/202747 ^@ NM_001256850.1(TTN):c.55217G>A (p.Arg18406Lys) http://identifiers.org/clinvar/202396 ^@ NM_001256850.1(TTN):c.55198C>T (p.Gln18400Ter) http://identifiers.org/clinvar/202746 ^@ NM_001256850.1(TTN):c.55043T>C (p.Val18348Ala) http://identifiers.org/clinvar/202745 ^@ NM_001256850.1(TTN):c.54979C>T (p.Pro18327Ser) http://identifiers.org/clinvar/202744 ^@ NM_001256850.1(TTN):c.54971C>T (p.Thr18324Ile) http://identifiers.org/clinvar/202743 ^@ NM_001256850.1(TTN):c.54734T>G (p.Val18245Gly) http://identifiers.org/clinvar/202393 ^@ NM_001256850.1(TTN):c.54430G>T (p.Glu18144Ter) http://identifiers.org/clinvar/202742 ^@ NM_001256850.1(TTN):c.54359A>G (p.Asn18120Ser) http://identifiers.org/clinvar/202741 ^@ NM_001256850.1(TTN):c.54313G>A (p.Gly18105Ser) http://identifiers.org/clinvar/202314 ^@ NM_001256850.1(TTN):c.54169G>C (p.Asp18057His) http://identifiers.org/clinvar/202740 ^@ NM_001256850.1(TTN):c.54080C>T (p.Pro18027Leu) http://identifiers.org/clinvar/202739 ^@ NM_001256850.1(TTN):c.54004G>A (p.Asp18002Asn) http://identifiers.org/clinvar/202313 ^@ NM_001256850.1(TTN):c.53944A>G (p.Lys17982Glu) http://identifiers.org/clinvar/202312 ^@ NM_133379.4(TTN):c.*265+151969A>C http://identifiers.org/clinvar/202738 ^@ NM_001256850.1(TTN):c.53690C>A (p.Thr17897Lys) http://identifiers.org/clinvar/202737 ^@ NM_001256850.1(TTN):c.53678G>A (p.Ser17893Asn) http://identifiers.org/clinvar/202736 ^@ NM_001256850.1(TTN):c.53547T>G (p.Asp17849Glu) http://identifiers.org/clinvar/202735 ^@ NM_001256850.1(TTN):c.53474G>C (p.Gly17825Ala) http://identifiers.org/clinvar/202395 ^@ NM_001256850.1(TTN):c.53347G>T (p.Glu17783Ter) http://identifiers.org/clinvar/202734 ^@ NM_001256850.1(TTN):c.53285C>G (p.Ala17762Gly) http://identifiers.org/clinvar/202733 ^@ NM_001256850.1(TTN):c.53198C>G (p.Thr17733Ser) http://identifiers.org/clinvar/202394 ^@ NM_001256850.1(TTN):c.52924+1G>C http://identifiers.org/clinvar/202392 ^@ NM_133379.4(TTN):c.*265+149735C>T http://identifiers.org/clinvar/202732 ^@ NM_001256850.1(TTN):c.52763G>A (p.Arg17588Lys) http://identifiers.org/clinvar/202731 ^@ NM_001256850.1(TTN):c.52733A>T (p.Tyr17578Phe) http://identifiers.org/clinvar/202730 ^@ NM_001256850.1(TTN):c.52723A>G (p.Ile17575Val) http://identifiers.org/clinvar/202729 ^@ NM_001256850.1(TTN):c.52585G>A (p.Gly17529Arg) http://identifiers.org/clinvar/202454 ^@ NM_001256850.1(TTN):c.52012_52034del23insAACCT (p.Asp17338_Pro17345delinsAsnLeu) http://identifiers.org/clinvar/202539 ^@ NM_001256850.1(TTN):c.51930delT (p.Gly17311Valfs) http://identifiers.org/clinvar/202728 ^@ NM_001256850.1(TTN):c.51696T>G (p.Ser17232Arg) http://identifiers.org/clinvar/202311 ^@ NM_001256850.1(TTN):c.51453A>G (p.Ile17151Met) http://identifiers.org/clinvar/202727 ^@ NM_001256850.1(TTN):c.51311A>T (p.Asp17104Val) http://identifiers.org/clinvar/202726 ^@ NM_001256850.1(TTN):c.51227C>T (p.Thr17076Ile) http://identifiers.org/clinvar/202276 ^@ NM_001256850.1(TTN):c.51009T>C (p.Phe17003=) http://identifiers.org/clinvar/202275 ^@ NM_001256850.1(TTN):c.50886G>A (p.Pro16962=) http://identifiers.org/clinvar/202310 ^@ NM_001256850.1(TTN):c.50510A>C (p.Asp16837Ala) http://identifiers.org/clinvar/202391 ^@ NM_001256850.1(TTN):c.50509+5G>C http://identifiers.org/clinvar/202725 ^@ NM_001256850.1(TTN):c.50494A>G (p.Arg16832Gly) http://identifiers.org/clinvar/202724 ^@ NM_001256850.1(TTN):c.50456C>T (p.Thr16819Ile) http://identifiers.org/clinvar/202723 ^@ NM_001256850.1(TTN):c.50423G>A (p.Cys16808Tyr) http://identifiers.org/clinvar/202453 ^@ NM_001256850.1(TTN):c.50401delT (p.Ser16801Glnfs) http://identifiers.org/clinvar/202722 ^@ NM_001256850.1(TTN):c.50156C>T (p.Pro16719Leu) http://identifiers.org/clinvar/202721 ^@ NM_001256850.1(TTN):c.50092C>A (p.Leu16698Met) http://identifiers.org/clinvar/202720 ^@ NM_001256850.1(TTN):c.49931C>T (p.Thr16644Met) http://identifiers.org/clinvar/202719 ^@ NM_133378.4(TTN):c.47108-14delT http://identifiers.org/clinvar/202718 ^@ NM_001256850.1(TTN):c.49873G>T (p.Ala16625Ser) http://identifiers.org/clinvar/202717 ^@ NM_001256850.1(TTN):c.49709C>G (p.Pro16570Arg) http://identifiers.org/clinvar/202390 ^@ NM_001256850.1(TTN):c.49637G>A (p.Trp16546Ter) http://identifiers.org/clinvar/202716 ^@ NM_001256850.1(TTN):c.49618G>C (p.Gly16540Arg) http://identifiers.org/clinvar/202715 ^@ NM_001256850.1(TTN):c.49595C>A (p.Pro16532Gln) http://identifiers.org/clinvar/202714 ^@ NM_001256850.1(TTN):c.49496G>A (p.Arg16499Gln) http://identifiers.org/clinvar/202713 ^@ NM_001256850.1(TTN):c.49457G>C (p.Gly16486Ala) http://identifiers.org/clinvar/202712 ^@ NM_001256850.1(TTN):c.49397C>G (p.Ala16466Gly) http://identifiers.org/clinvar/202711 ^@ NM_001256850.1(TTN):c.49270C>T (p.Arg16424Cys) http://identifiers.org/clinvar/202509 ^@ NM_001256850.1(TTN):c.49243C>T (p.Arg16415Ter) http://identifiers.org/clinvar/202452 ^@ NM_001256850.1(TTN):c.49189delG (p.Glu16397Argfs) http://identifiers.org/clinvar/202710 ^@ NM_001256850.1(TTN):c.48857T>C (p.Leu16286Pro) http://identifiers.org/clinvar/202709 ^@ NM_001256850.1(TTN):c.48736C>T (p.Arg16246Cys) http://identifiers.org/clinvar/202451 ^@ NM_001256850.1(TTN):c.48470delG (p.Gly16157Alafs) http://identifiers.org/clinvar/202389 ^@ NM_001256850.1(TTN):c.48432G>A (p.Trp16144Ter) http://identifiers.org/clinvar/202274 ^@ NM_001256850.1(TTN):c.48365-18G>T http://identifiers.org/clinvar/202273 ^@ NM_001267550.2(TTN):c.53287+6G>A http://identifiers.org/clinvar/202708 ^@ NM_001256850.1(TTN):c.48236T>C (p.Ile16079Thr) http://identifiers.org/clinvar/202707 ^@ NM_001256850.1(TTN):c.48137G>T (p.Gly16046Val) http://identifiers.org/clinvar/202388 ^@ NM_001256850.1(TTN):c.48076C>T (p.Gln16026Ter) http://identifiers.org/clinvar/202272 ^@ NM_001256850.1(TTN):c.48039G>A (p.Pro16013=) http://identifiers.org/clinvar/202706 ^@ NM_001256850.1(TTN):c.48025G>A (p.Ala16009Thr) http://identifiers.org/clinvar/202705 ^@ NM_001256850.1(TTN):c.47968G>A (p.Val15990Ile) http://identifiers.org/clinvar/202704 ^@ NM_001256850.1(TTN):c.47908G>A (p.Val15970Ile) http://identifiers.org/clinvar/202703 ^@ NM_001256850.1(TTN):c.47869G>C (p.Gly15957Arg) http://identifiers.org/clinvar/202702 ^@ NM_001256850.1(TTN):c.47779A>G (p.Ile15927Val) http://identifiers.org/clinvar/202701 ^@ NM_001256850.1(TTN):c.47770C>G (p.His15924Asp) http://identifiers.org/clinvar/202700 ^@ NM_001256850.1(TTN):c.47638A>G (p.Lys15880Glu) http://identifiers.org/clinvar/202386 ^@ NM_001256850.1(TTN):c.47550G>A (p.Trp15850Ter) http://identifiers.org/clinvar/202271 ^@ NM_001256850.1(TTN):c.47486C>A (p.Pro15829Gln) http://identifiers.org/clinvar/202309 ^@ NM_133378.4(TTN):c.44627G>A (p.Arg14876His) http://identifiers.org/clinvar/202450 ^@ NM_001256850.1(TTN):c.47384_47387dupTTGA (p.Glu15796Aspfs) http://identifiers.org/clinvar/202699 ^@ NM_001256850.1(TTN):c.47189G>A (p.Gly15730Glu) http://identifiers.org/clinvar/202698 ^@ NM_001256850.1(TTN):c.47119A>G (p.Met15707Val) http://identifiers.org/clinvar/202538 ^@ NM_001256850.1(TTN):c.46910_46925del16 (p.Thr15637Argfs) http://identifiers.org/clinvar/202385 ^@ NM_001256850.1(TTN):c.46898C>A (p.Ser15633Ter) http://identifiers.org/clinvar/202697 ^@ NM_001256850.1(TTN):c.46859G>A (p.Arg15620Gln) http://identifiers.org/clinvar/202696 ^@ NM_001256850.1(TTN):c.46845C>A (p.Ser15615Arg) http://identifiers.org/clinvar/202695 ^@ NM_001256850.1(TTN):c.46781G>A (p.Arg15594Gln) http://identifiers.org/clinvar/202694 ^@ NM_001256850.1(TTN):c.46656G>C (p.Arg15552Ser) http://identifiers.org/clinvar/202384 ^@ NM_001256850.1(TTN):c.46513+1G>A http://identifiers.org/clinvar/202693 ^@ NM_001256850.1(TTN):c.46324G>T (p.Val15442Phe) http://identifiers.org/clinvar/202692 ^@ NM_001256850.1(TTN):c.46264T>C (p.Ser15422Pro) http://identifiers.org/clinvar/202691 ^@ NM_001256850.1(TTN):c.46219C>T (p.Pro15407Ser) http://identifiers.org/clinvar/202690 ^@ NM_001256850.1(TTN):c.46211T>C (p.Ile15404Thr) http://identifiers.org/clinvar/202383 ^@ NM_001256850.1(TTN):c.46204A>T (p.Lys15402Ter) http://identifiers.org/clinvar/202689 ^@ NM_001256850.1(TTN):c.46144G>A (p.Gly15382Arg) http://identifiers.org/clinvar/202688 ^@ NM_001256850.1(TTN):c.45968T>C (p.Ile15323Thr) http://identifiers.org/clinvar/202382 ^@ NM_001256850.1(TTN):c.45937A>T (p.Lys15313Ter) http://identifiers.org/clinvar/202381 ^@ NM_001256850.1(TTN):c.45898G>T (p.Glu15300Ter) http://identifiers.org/clinvar/202687 ^@ NM_001256850.1(TTN):c.45874G>A (p.Ala15292Thr) http://identifiers.org/clinvar/202686 ^@ NM_001256850.1(TTN):c.45851T>C (p.Val15284Ala) http://identifiers.org/clinvar/202685 ^@ NM_001256850.1(TTN):c.45796A>G (p.Ile15266Val) http://identifiers.org/clinvar/202684 ^@ NM_001256850.1(TTN):c.45746A>C (p.Glu15249Ala) http://identifiers.org/clinvar/202380 ^@ NM_001256850.1(TTN):c.45629-2A>G http://identifiers.org/clinvar/202449 ^@ NM_001256850.1(TTN):c.45505_45508dupAACT (p.Phe15170Terfs) http://identifiers.org/clinvar/202308 ^@ NM_001256850.1(TTN):c.45477A>T (p.Lys15159Asn) http://identifiers.org/clinvar/202307 ^@ NM_001256850.1(TTN):c.45467G>A (p.Arg15156His) http://identifiers.org/clinvar/202683 ^@ NM_001256850.1(TTN):c.45289G>A (p.Glu15097Lys) http://identifiers.org/clinvar/202306 ^@ NM_001256850.1(TTN):c.45262A>G (p.Asn15088Asp) http://identifiers.org/clinvar/202378 ^@ NM_001256850.1(TTN):c.45247C>T (p.Arg15083Ter) http://identifiers.org/clinvar/202448 ^@ NM_001256850.1(TTN):c.45211_45214dupGTCA (p.Thr15072Serfs) http://identifiers.org/clinvar/202682 ^@ NM_001256850.1(TTN):c.45161G>A (p.Arg15054Gln) http://identifiers.org/clinvar/202377 ^@ NM_001256850.1(TTN):c.45160C>T (p.Arg15054Ter) http://identifiers.org/clinvar/202681 ^@ NM_001256850.1(TTN):c.45048G>T (p.Trp15016Cys) http://identifiers.org/clinvar/202680 ^@ NM_001256850.1(TTN):c.45040C>T (p.Pro15014Ser) http://identifiers.org/clinvar/202376 ^@ NM_001256850.1(TTN):c.45035C>G (p.Ser15012Ter) http://identifiers.org/clinvar/202679 ^@ NM_001256850.1(TTN):c.45013C>T (p.Arg15005Trp) http://identifiers.org/clinvar/202678 ^@ NM_001256850.1(TTN):c.44891T>G (p.Val14964Gly) http://identifiers.org/clinvar/202677 ^@ NM_001256850.1(TTN):c.44473G>A (p.Ala14825Thr) http://identifiers.org/clinvar/202676 ^@ NM_001256850.1(TTN):c.44440A>G (p.Thr14814Ala) http://identifiers.org/clinvar/202374 ^@ NM_001256850.1(TTN):c.44423-2A>T http://identifiers.org/clinvar/202270 ^@ NM_001256850.1(TTN):c.44355T>C (p.Ala14785=) http://identifiers.org/clinvar/202675 ^@ NM_001256850.1(TTN):c.44278C>G (p.Leu14760Val) http://identifiers.org/clinvar/202674 ^@ NM_001256850.1(TTN):c.44251G>A (p.Ala14751Thr) http://identifiers.org/clinvar/202673 ^@ NM_001256850.1(TTN):c.44191T>C (p.Trp14731Arg) http://identifiers.org/clinvar/202373 ^@ NM_001256850.1(TTN):c.44177C>A (p.Ser14726Ter) http://identifiers.org/clinvar/202672 ^@ NM_001256850.1(TTN):c.44093G>A (p.Arg14698Gln) http://identifiers.org/clinvar/202447 ^@ NM_001256850.1(TTN):c.43940delC (p.Pro14647Leufs) http://identifiers.org/clinvar/202671 ^@ NM_001256850.1(TTN):c.43928G>A (p.Gly14643Glu) http://identifiers.org/clinvar/202670 ^@ NM_001256850.1(TTN):c.43843C>A (p.Pro14615Thr) http://identifiers.org/clinvar/202669 ^@ NM_001256850.1(TTN):c.43760G>A (p.Arg14587His) http://identifiers.org/clinvar/202269 ^@ NM_001256850.1(TTN):c.43701T>C (p.Pro14567=) http://identifiers.org/clinvar/202668 ^@ NM_001256850.1(TTN):c.43667G>A (p.Arg14556His) http://identifiers.org/clinvar/202667 ^@ NM_001256850.1(TTN):c.43586A>G (p.Asn14529Ser) http://identifiers.org/clinvar/202666 ^@ NM_001256850.1(TTN):c.43577G>C (p.Arg14526Pro) http://identifiers.org/clinvar/202665 ^@ NM_001256850.1(TTN):c.43528A>C (p.Thr14510Pro) http://identifiers.org/clinvar/202664 ^@ NM_001256850.1(TTN):c.43471C>T (p.Arg14491Cys) http://identifiers.org/clinvar/202372 ^@ NM_001256850.1(TTN):c.43383G>A (p.Trp14461Ter) http://identifiers.org/clinvar/202371 ^@ NM_001256850.1(TTN):c.43360C>T (p.Arg14454Ter) http://identifiers.org/clinvar/202305 ^@ NM_001256850.1(TTN):c.43348G>A (p.Val14450Ile) http://identifiers.org/clinvar/202663 ^@ NM_001256850.1(TTN):c.43241G>A (p.Arg14414His) http://identifiers.org/clinvar/202662 ^@ NM_001256850.1(TTN):c.43171A>G (p.Ile14391Val) http://identifiers.org/clinvar/202446 ^@ NM_001256850.1(TTN):c.43092_43093delAG (p.Asp14366Profs) http://identifiers.org/clinvar/202661 ^@ NM_001256850.1(TTN):c.43091C>G (p.Thr14364Arg) http://identifiers.org/clinvar/202660 ^@ NM_001256850.1(TTN):c.43075G>C (p.Asp14359His) http://identifiers.org/clinvar/202659 ^@ NM_001256850.1(TTN):c.42913T>C (p.Ser14305Pro) http://identifiers.org/clinvar/202658 ^@ NM_001256850.1(TTN):c.42627C>G (p.Phe14209Leu) http://identifiers.org/clinvar/202657 ^@ NM_001256850.1(TTN):c.42593T>C (p.Ile14198Thr) http://identifiers.org/clinvar/202370 ^@ NM_001256850.1(TTN):c.42556C>T (p.Gln14186Ter) http://identifiers.org/clinvar/202656 ^@ NM_001256850.1(TTN):c.42513A>T (p.Arg14171Ser) http://identifiers.org/clinvar/202655 ^@ NM_001256850.1(TTN):c.42489G>T (p.Arg14163Ser) http://identifiers.org/clinvar/202654 ^@ NM_001256850.1(TTN):c.42484A>G (p.Ile14162Val) http://identifiers.org/clinvar/202653 ^@ NM_001256850.1(TTN):c.42050C>T (p.Pro14017Leu) http://identifiers.org/clinvar/202268 ^@ NM_001256850.1(TTN):c.42044-19C>G http://identifiers.org/clinvar/202652 ^@ NM_001256850.1(TTN):c.41486G>A (p.Arg13829His) http://identifiers.org/clinvar/202651 ^@ NM_001256850.1(TTN):c.41446G>A (p.Glu13816Lys) http://identifiers.org/clinvar/202650 ^@ NM_001256850.1(TTN):c.41440G>A (p.Asp13814Asn) http://identifiers.org/clinvar/202649 ^@ NM_001256850.1(TTN):c.41383T>C (p.Tyr13795His) http://identifiers.org/clinvar/202445 ^@ NM_001256850.1(TTN):c.41328_41329delGA (p.Lys13777Serfs) http://identifiers.org/clinvar/202648 ^@ NM_133378.4(TTN):c.38333G>A (p.Arg12778His) http://identifiers.org/clinvar/202647 ^@ NM_001256850.1(TTN):c.40932A>T (p.Arg13644Ser) http://identifiers.org/clinvar/202646 ^@ NM_001256850.1(TTN):c.40802G>A (p.Arg13601Lys) http://identifiers.org/clinvar/202645 ^@ NM_001256850.1(TTN):c.40801A>G (p.Arg13601Gly) http://identifiers.org/clinvar/202644 ^@ NM_001256850.1(TTN):c.40678C>G (p.His13560Asp) http://identifiers.org/clinvar/202643 ^@ NM_001256850.1(TTN):c.40415T>C (p.Val13472Ala) http://identifiers.org/clinvar/202642 ^@ NM_001256850.1(TTN):c.40406A>G (p.Asp13469Gly) http://identifiers.org/clinvar/202537 ^@ NM_001256850.1(TTN):c.40393_40397dupAGCTC (p.Arg13467Alafs) http://identifiers.org/clinvar/202304 ^@ NM_001256850.1(TTN):c.40387C>T (p.Leu13463Phe) http://identifiers.org/clinvar/202641 ^@ NM_001256850.1(TTN):c.40289T>C (p.Ile13430Thr) http://identifiers.org/clinvar/202640 ^@ NM_001256850.1(TTN):c.40282_40284delGAG (p.Glu13428del) http://identifiers.org/clinvar/202444 ^@ NM_001256850.1(TTN):c.40166_40168delAAG (p.Glu13389del) http://identifiers.org/clinvar/202639 ^@ NM_001256850.1(TTN):c.40165G>C (p.Glu13389Gln) http://identifiers.org/clinvar/202638 ^@ NM_001256850.1(TTN):c.40047A>G (p.Ile13349Met) http://identifiers.org/clinvar/202637 ^@ NM_001256850.1(TTN):c.39977G>A (p.Arg13326Gln) http://identifiers.org/clinvar/202636 ^@ NM_001256850.1(TTN):c.39959T>C (p.Phe13320Ser) http://identifiers.org/clinvar/202368 ^@ NM_001256850.1(TTN):c.39893-1G>A http://identifiers.org/clinvar/202367 ^@ NM_001256850.1(TTN):c.39349C>T (p.Arg13117Ter) http://identifiers.org/clinvar/202635 ^@ NM_001256850.1(TTN):c.39281A>G (p.Asn13094Ser) http://identifiers.org/clinvar/202267 ^@ NM_001256850.1(TTN):c.39231+6G>T http://identifiers.org/clinvar/202634 ^@ NM_001256850.1(TTN):c.39097G>A (p.Glu13033Lys) http://identifiers.org/clinvar/202266 ^@ NM_001256850.1(TTN):c.39091+19G>C http://identifiers.org/clinvar/202366 ^@ NM_001256850.1(TTN):c.38825-1G>A http://identifiers.org/clinvar/202365 ^@ NM_001256850.1(TTN):c.38824+1G>T http://identifiers.org/clinvar/202442 ^@ NM_001256850.1(TTN):c.38804_38805delAA (p.Glu12935Glyfs) http://identifiers.org/clinvar/202633 ^@ NM_001256850.1(TTN):c.38794A>G (p.Met12932Val) http://identifiers.org/clinvar/202632 ^@ NM_001256850.1(TTN):c.38746G>A (p.Asp12916Asn) http://identifiers.org/clinvar/202441 ^@ NM_001256850.1(TTN):c.38710dupC (p.Gln12904Profs) http://identifiers.org/clinvar/202631 ^@ NM_001256850.1(TTN):c.38681G>A (p.Arg12894His) http://identifiers.org/clinvar/202536 ^@ NM_001256850.1(TTN):c.38621dupT (p.Phe12875Ilefs) http://identifiers.org/clinvar/202630 ^@ NM_001256850.1(TTN):c.38146C>G (p.Pro12716Ala) http://identifiers.org/clinvar/202629 ^@ NM_001256850.1(TTN):c.38128T>G (p.Trp12710Gly) http://identifiers.org/clinvar/202303 ^@ NM_001256850.1(TTN):c.38079A>C (p.Glu12693Asp) http://identifiers.org/clinvar/202628 ^@ NM_001256850.1(TTN):c.38027G>C (p.Arg12676Pro) http://identifiers.org/clinvar/202627 ^@ NM_001256850.1(TTN):c.38011G>A (p.Val12671Ile) http://identifiers.org/clinvar/202626 ^@ NM_001256850.1(TTN):c.37622A>C (p.His12541Pro) http://identifiers.org/clinvar/202439 ^@ NM_001256850.1(TTN):c.37585dupA (p.Met12529Asnfs) http://identifiers.org/clinvar/202625 ^@ NM_001256850.1(TTN):c.37511T>C (p.Met12504Thr) http://identifiers.org/clinvar/202364 ^@ NM_001256850.1(TTN):c.37291C>T (p.Arg12431Ter) http://identifiers.org/clinvar/202624 ^@ NM_001256850.1(TTN):c.37267A>G (p.Thr12423Ala) http://identifiers.org/clinvar/202623 ^@ NM_001256850.1(TTN):c.37162G>A (p.Asp12388Asn) http://identifiers.org/clinvar/202622 ^@ NM_001256850.1(TTN):c.37132C>T (p.Arg12378Cys) http://identifiers.org/clinvar/202438 ^@ NM_001256850.1(TTN):c.37008delT (p.Tyr12336Terfs) http://identifiers.org/clinvar/202517 ^@ NM_001256850.1(TTN):c.36870C>A (p.Tyr12290Ter) http://identifiers.org/clinvar/202621 ^@ NM_001256850.1(TTN):c.36625T>C (p.Tyr12209His) http://identifiers.org/clinvar/202620 ^@ NM_001256850.1(TTN):c.36565G>A (p.Val12189Ile) http://identifiers.org/clinvar/202619 ^@ NM_001256850.1(TTN):c.36505G>A (p.Val12169Met) http://identifiers.org/clinvar/202617 ^@ NM_001256850.1(TTN):c.36201T>G (p.Cys12067Trp) http://identifiers.org/clinvar/202616 ^@ NM_001256850.1(TTN):c.36181T>C (p.Ser12061Pro) http://identifiers.org/clinvar/202615 ^@ NM_001256850.1(TTN):c.36118G>A (p.Val12040Met) http://identifiers.org/clinvar/202516 ^@ NM_001256850.1(TTN):c.36053T>A (p.Leu12018Ter) http://identifiers.org/clinvar/202614 ^@ NM_001256850.1(TTN):c.36040G>A (p.Glu12014Lys) http://identifiers.org/clinvar/202613 ^@ NM_001256850.1(TTN):c.35873C>T (p.Thr11958Ile) http://identifiers.org/clinvar/202612 ^@ NM_001256850.1(TTN):c.35834C>T (p.Ala11945Val) http://identifiers.org/clinvar/202611 ^@ NM_001256850.1(TTN):c.35677C>T (p.Pro11893Ser) http://identifiers.org/clinvar/202302 ^@ NM_001256850.1(TTN):c.35672T>C (p.Val11891Ala) http://identifiers.org/clinvar/202610 ^@ NM_001256850.1(TTN):c.35429C>A (p.Pro11810His) http://identifiers.org/clinvar/202608 ^@ NM_001256850.1(TTN):c.35362C>A (p.Pro11788Thr) http://identifiers.org/clinvar/202606 ^@ NM_001256850.1(TTN):c.35182C>G (p.Pro11728Ala) http://identifiers.org/clinvar/202264 ^@ NM_133379.4(TTN):c.*265+94550G>A http://identifiers.org/clinvar/202605 ^@ NM_001256850.1(TTN):c.35128G>T (p.Val11710Phe) http://identifiers.org/clinvar/202604 ^@ NM_001256850.1(TTN):c.35095C>G (p.Pro11699Ala) http://identifiers.org/clinvar/202603 ^@ NM_001256850.1(TTN):c.34753C>T (p.Pro11585Ser) http://identifiers.org/clinvar/202602 ^@ NM_001256850.1(TTN):c.34729G>T (p.Val11577Leu) http://identifiers.org/clinvar/202601 ^@ NM_001256850.1(TTN):c.34618C>T (p.Pro11540Ser) http://identifiers.org/clinvar/202600 ^@ NM_001256850.1(TTN):c.34594A>C (p.Thr11532Pro) http://identifiers.org/clinvar/202599 ^@ NM_001256850.1(TTN):c.34550C>A (p.Pro11517His) http://identifiers.org/clinvar/202598 ^@ NM_001267550.2(TTN):c.38278G>A (p.Glu12760Lys) http://identifiers.org/clinvar/202597 ^@ NM_001267550.2(TTN):c.38255C>T (p.Pro12752Leu) http://identifiers.org/clinvar/202596 ^@ NM_001256850.1(TTN):c.34523-1986A>T http://identifiers.org/clinvar/202595 ^@ NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu) http://identifiers.org/clinvar/202363 ^@ NM_001256850.1(TTN):c.34523-2369T>C http://identifiers.org/clinvar/202301 ^@ NM_001256850.1(TTN):c.33961G>A (p.Glu11321Lys) http://identifiers.org/clinvar/202594 ^@ NM_001256850.1(TTN):c.33860T>C (p.Val11287Ala) http://identifiers.org/clinvar/202593 ^@ NM_001256850.1(TTN):c.33832G>T (p.Val11278Leu) http://identifiers.org/clinvar/202361 ^@ NM_001256850.1(TTN):c.33733+1G>A http://identifiers.org/clinvar/202592 ^@ NM_001256850.1(TTN):c.33664G>A (p.Val11222Met) http://identifiers.org/clinvar/202591 ^@ NM_001256850.1(TTN):c.33650C>T (p.Ala11217Val) http://identifiers.org/clinvar/202590 ^@ NM_001256850.1(TTN):c.33631G>C (p.Val11211Leu) http://identifiers.org/clinvar/202589 ^@ NM_001256850.1(TTN):c.33599T>C (p.Ile11200Thr) http://identifiers.org/clinvar/202515 ^@ NM_001256850.1(TTN):c.33490+3A>G http://identifiers.org/clinvar/202300 ^@ NM_001256850.1(TTN):c.33479T>C (p.Leu11160Pro) http://identifiers.org/clinvar/202588 ^@ NM_001256850.1(TTN):c.33449G>A (p.Arg11150Gln) http://identifiers.org/clinvar/202587 ^@ NM_001256850.1(TTN):c.33178G>T (p.Val11060Phe) http://identifiers.org/clinvar/202586 ^@ NM_001256850.1(TTN):c.33103C>G (p.Leu11035Val) http://identifiers.org/clinvar/202585 ^@ NM_001256850.1(TTN):c.33086C>T (p.Pro11029Leu) http://identifiers.org/clinvar/202584 ^@ NM_001256850.1(TTN):c.32905G>C (p.Glu10969Gln) http://identifiers.org/clinvar/202360 ^@ NM_001256850.1(TTN):c.32629G>A (p.Val10877Met) http://identifiers.org/clinvar/202581 ^@ NM_001256850.1(TTN):c.32494C>T (p.Pro10832Ser) http://identifiers.org/clinvar/202580 ^@ NM_001256850.1(TTN):c.32476G>T (p.Val10826Leu) http://identifiers.org/clinvar/202579 ^@ NM_001256850.1(TTN):c.32416G>A (p.Ala10806Thr) http://identifiers.org/clinvar/202436 ^@ NM_001256850.1(TTN):c.32389+1dupG http://identifiers.org/clinvar/202359 ^@ NM_001256850.1(TTN):c.32222-1G>A http://identifiers.org/clinvar/202577 ^@ NM_001256850.1(TTN):c.32201C>G (p.Pro10734Arg) http://identifiers.org/clinvar/202576 ^@ NM_001256850.1(TTN):c.31870A>G (p.Lys10624Glu) http://identifiers.org/clinvar/202575 ^@ NM_001256850.1(TTN):c.31754C>T (p.Ala10585Val) http://identifiers.org/clinvar/202574 ^@ NM_001256850.1(TTN):c.31748A>C (p.Lys10583Thr) http://identifiers.org/clinvar/202573 ^@ NM_001256850.1(TTN):c.31732G>T (p.Val10578Phe) http://identifiers.org/clinvar/202572 ^@ NM_001256850.1(TTN):c.31709T>C (p.Ile10570Thr) http://identifiers.org/clinvar/202571 ^@ NM_001256850.1(TTN):c.31303G>T (p.Val10435Phe) http://identifiers.org/clinvar/202299 ^@ NM_001256850.1(TTN):c.31274C>T (p.Ser10425Leu) http://identifiers.org/clinvar/202298 ^@ NM_001256850.1(TTN):c.31238G>A (p.Arg10413Gln) http://identifiers.org/clinvar/202570 ^@ NM_001256850.1(TTN):c.31142G>A (p.Arg10381Gln) http://identifiers.org/clinvar/202569 ^@ NM_001256850.1(TTN):c.31103C>T (p.Ala10368Val) http://identifiers.org/clinvar/202568 ^@ NM_133378.4(TTN):c.28294A>G (p.Lys9432Glu) http://identifiers.org/clinvar/202567 ^@ NM_001256850.1(TTN):c.31027C>T (p.Arg10343Trp) http://identifiers.org/clinvar/202566 ^@ NM_001256850.1(TTN):c.30941T>C (p.Ile10314Thr) http://identifiers.org/clinvar/202565 ^@ NM_001256850.1(TTN):c.30890C>A (p.Ala10297Asp) http://identifiers.org/clinvar/202564 ^@ NM_001256850.1(TTN):c.30769C>G (p.Pro10257Ala) http://identifiers.org/clinvar/202358 ^@ NM_001256850.1(TTN):c.30643G>A (p.Val10215Ile) http://identifiers.org/clinvar/202563 ^@ NM_001256850.1(TTN):c.30521T>C (p.Met10174Thr) http://identifiers.org/clinvar/202562 ^@ NM_001256850.1(TTN):c.30490A>G (p.Thr10164Ala) http://identifiers.org/clinvar/202561 ^@ NM_001256850.1(TTN):c.30287T>C (p.Val10096Ala) http://identifiers.org/clinvar/202560 ^@ NM_001256850.1(TTN):c.30163G>C (p.Glu10055Gln) http://identifiers.org/clinvar/202297 ^@ NM_001256850.1(TTN):c.30083A>G (p.Tyr10028Cys) http://identifiers.org/clinvar/202559 ^@ NM_001256850.1(TTN):c.30043C>G (p.Pro10015Ala) http://identifiers.org/clinvar/202558 ^@ NM_001256850.1(TTN):c.29981G>C (p.Arg9994Thr) http://identifiers.org/clinvar/202357 ^@ NM_001256850.1(TTN):c.29560+5G>A http://identifiers.org/clinvar/202557 ^@ NM_001256850.1(TTN):c.29536G>T (p.Ala9846Ser) http://identifiers.org/clinvar/202556 ^@ NM_001256850.1(TTN):c.29516G>C (p.Arg9839Thr) http://identifiers.org/clinvar/202555 ^@ NM_001256850.1(TTN):c.29438G>A (p.Arg9813His) http://identifiers.org/clinvar/202554 ^@ NM_001256850.1(TTN):c.29269G>A (p.Glu9757Lys) http://identifiers.org/clinvar/202553 ^@ NM_001256850.1(TTN):c.29215G>T (p.Gly9739Cys) http://identifiers.org/clinvar/202552 ^@ NM_001256850.1(TTN):c.28811T>C (p.Ile9604Thr) http://identifiers.org/clinvar/202551 ^@ NM_001256850.1(TTN):c.28363G>A (p.Val9455Met) http://identifiers.org/clinvar/202356 ^@ NM_133378.4(TTN):c.25513C>T (p.Gln8505Ter) http://identifiers.org/clinvar/202550 ^@ NM_001256850.1(TTN):c.28280G>A (p.Arg9427His) http://identifiers.org/clinvar/202549 ^@ NM_001256850.1(TTN):c.28232A>G (p.Asn9411Ser) http://identifiers.org/clinvar/202548 ^@ NM_001256850.1(TTN):c.28231A>G (p.Asn9411Asp) http://identifiers.org/clinvar/202547 ^@ NM_001256850.1(TTN):c.28097C>T (p.Pro9366Leu) http://identifiers.org/clinvar/202355 ^@ NM_001256850.1(TTN):c.28091-2A>C http://identifiers.org/clinvar/202531 ^@ NM_001256850.1(TTN):c.27938T>G (p.Ile9313Arg) http://identifiers.org/clinvar/203359 ^@ NM_001256850.1(TTN):c.27782C>T (p.Thr9261Met) http://identifiers.org/clinvar/202296 ^@ NM_001256850.1(TTN):c.27726C>T (p.Asn9242=) http://identifiers.org/clinvar/203358 ^@ NM_001256850.1(TTN):c.27677C>T (p.Thr9226Ile) http://identifiers.org/clinvar/203357 ^@ NM_001256850.1(TTN):c.27626C>T (p.Ala9209Val) http://identifiers.org/clinvar/203356 ^@ NM_001256850.1(TTN):c.27300G>C (p.Glu9100Asp) http://identifiers.org/clinvar/203355 ^@ NM_001256850.1(TTN):c.27289G>T (p.Ala9097Ser) http://identifiers.org/clinvar/203354 ^@ NM_001256850.1(TTN):c.27147C>G (p.Ser9049Arg) http://identifiers.org/clinvar/203353 ^@ NM_001256850.1(TTN):c.26977G>A (p.Val8993Ile) http://identifiers.org/clinvar/203352 ^@ NM_001256850.1(TTN):c.26762G>T (p.Trp8921Leu) http://identifiers.org/clinvar/203351 ^@ NM_001256850.1(TTN):c.26758T>G (p.Ser8920Ala) http://identifiers.org/clinvar/202514 ^@ NM_001256850.1(TTN):c.26562delT (p.Pro8855Glnfs) http://identifiers.org/clinvar/203350 ^@ NM_001256850.1(TTN):c.26314T>C (p.Tyr8772His) http://identifiers.org/clinvar/203349 ^@ NM_001256850.1(TTN):c.26204G>C (p.Trp8735Ser) http://identifiers.org/clinvar/203348 ^@ NM_001256850.1(TTN):c.25793C>G (p.Ala8598Gly) http://identifiers.org/clinvar/203347 ^@ NM_001256850.1(TTN):c.25606G>C (p.Val8536Leu) http://identifiers.org/clinvar/203346 ^@ NM_001256850.1(TTN):c.25513G>A (p.Ala8505Thr) http://identifiers.org/clinvar/203345 ^@ NM_001256850.1(TTN):c.25270A>G (p.Lys8424Glu) http://identifiers.org/clinvar/203344 ^@ NM_001256850.1(TTN):c.25228G>A (p.Val8410Ile) http://identifiers.org/clinvar/203343 ^@ NM_001256850.1(TTN):c.25210G>A (p.Val8404Met) http://identifiers.org/clinvar/203342 ^@ NM_001256850.1(TTN):c.25195A>G (p.Lys8399Glu) http://identifiers.org/clinvar/203341 ^@ NM_001256850.1(TTN):c.25169C>T (p.Ala8390Val) http://identifiers.org/clinvar/202535 ^@ NM_001256850.1(TTN):c.25077G>A (p.Trp8359Ter) http://identifiers.org/clinvar/203340 ^@ NM_001256850.1(TTN):c.24902G>A (p.Gly8301Glu) http://identifiers.org/clinvar/203339 ^@ NM_001256850.1(TTN):c.24748A>G (p.Thr8250Ala) http://identifiers.org/clinvar/203338 ^@ NM_001256850.1(TTN):c.24686A>G (p.Gln8229Arg) http://identifiers.org/clinvar/203337 ^@ NM_001256850.1(TTN):c.24525T>A (p.Asp8175Glu) http://identifiers.org/clinvar/203336 ^@ NM_001256850.1(TTN):c.24296C>T (p.Thr8099Ile) http://identifiers.org/clinvar/203335 ^@ NM_001256850.1(TTN):c.24284A>G (p.His8095Arg) http://identifiers.org/clinvar/203334 ^@ NM_001256850.1(TTN):c.24194G>A (p.Arg8065His) http://identifiers.org/clinvar/203333 ^@ NM_001256850.1(TTN):c.24115C>T (p.Arg8039Cys) http://identifiers.org/clinvar/203332 ^@ NM_001256850.1(TTN):c.23888C>T (p.Pro7963Leu) http://identifiers.org/clinvar/203331 ^@ NM_001256850.1(TTN):c.23818C>G (p.Leu7940Val) http://identifiers.org/clinvar/203330 ^@ NM_001256850.1(TTN):c.23668G>A (p.Asp7890Asn) http://identifiers.org/clinvar/202295 ^@ NM_001256850.1(TTN):c.23555-16T>C http://identifiers.org/clinvar/203329 ^@ NM_001256850.1(TTN):c.23407C>T (p.Pro7803Ser) http://identifiers.org/clinvar/203328 ^@ NM_001256850.1(TTN):c.23066G>A (p.Cys7689Tyr) http://identifiers.org/clinvar/203327 ^@ NM_001256850.1(TTN):c.22943A>G (p.Asn7648Ser) http://identifiers.org/clinvar/203326 ^@ NM_001256850.1(TTN):c.22796C>G (p.Pro7599Arg) http://identifiers.org/clinvar/202546 ^@ NM_001256850.1(TTN):c.22709-7_22709-5delCTT http://identifiers.org/clinvar/203325 ^@ NM_001256850.1(TTN):c.22634A>C (p.Asn7545Thr) http://identifiers.org/clinvar/203324 ^@ NM_001256850.1(TTN):c.22627G>A (p.Ala7543Thr) http://identifiers.org/clinvar/203323 ^@ NM_001256850.1(TTN):c.22493G>A (p.Arg7498Gln) http://identifiers.org/clinvar/203322 ^@ NM_001256850.1(TTN):c.22478A>G (p.Asp7493Gly) http://identifiers.org/clinvar/203321 ^@ NM_001256850.1(TTN):c.22406C>A (p.Ser7469Tyr) http://identifiers.org/clinvar/203320 ^@ NM_001256850.1(TTN):c.22402T>C (p.Cys7468Arg) http://identifiers.org/clinvar/202434 ^@ NM_001256850.1(TTN):c.22264C>T (p.Arg7422Ter) http://identifiers.org/clinvar/203319 ^@ NM_001256850.1(TTN):c.22117G>A (p.Ala7373Thr) http://identifiers.org/clinvar/203318 ^@ NM_001256850.1(TTN):c.21971C>T (p.Ser7324Leu) http://identifiers.org/clinvar/203317 ^@ NM_001256850.1(TTN):c.21938G>C (p.Cys7313Ser) http://identifiers.org/clinvar/203316 ^@ NM_001256850.1(TTN):c.21716G>A (p.Arg7239His) http://identifiers.org/clinvar/203315 ^@ NM_001256850.1(TTN):c.21715C>A (p.Arg7239Ser) http://identifiers.org/clinvar/203314 ^@ NM_001256850.1(TTN):c.21488A>C (p.Gln7163Pro) http://identifiers.org/clinvar/203313 ^@ NM_001256850.1(TTN):c.21469G>A (p.Ala7157Thr) http://identifiers.org/clinvar/203312 ^@ NM_001256850.1(TTN):c.21461A>G (p.Asp7154Gly) http://identifiers.org/clinvar/203311 ^@ NM_001256850.1(TTN):c.21361C>T (p.Leu7121Phe) http://identifiers.org/clinvar/203310 ^@ NM_001256850.1(TTN):c.21292C>T (p.Arg7098Cys) http://identifiers.org/clinvar/203309 ^@ NM_001256850.1(TTN):c.21263C>T (p.Ser7088Phe) http://identifiers.org/clinvar/203308 ^@ NM_001256850.1(TTN):c.21161C>T (p.Thr7054Ile) http://identifiers.org/clinvar/203307 ^@ NM_001256850.1(TTN):c.21025G>T (p.Val7009Phe) http://identifiers.org/clinvar/203306 ^@ NM_001256850.1(TTN):c.21019T>G (p.Tyr7007Asp) http://identifiers.org/clinvar/203305 ^@ NM_001256850.1(TTN):c.20993C>T (p.Ala6998Val) http://identifiers.org/clinvar/203304 ^@ NM_001256850.1(TTN):c.20908C>G (p.Leu6970Val) http://identifiers.org/clinvar/203303 ^@ NM_001256850.1(TTN):c.20866T>C (p.Ser6956Pro) http://identifiers.org/clinvar/203302 ^@ NM_001256850.1(TTN):c.20849G>A (p.Gly6950Asp) http://identifiers.org/clinvar/203301 ^@ NM_001256850.1(TTN):c.20839A>C (p.Lys6947Gln) http://identifiers.org/clinvar/203300 ^@ NM_001256850.1(TTN):c.20705C>T (p.Ser6902Phe) http://identifiers.org/clinvar/203299 ^@ NM_001256850.1(TTN):c.20687A>C (p.Asn6896Thr) http://identifiers.org/clinvar/203298 ^@ NM_001256850.1(TTN):c.20602A>T (p.Ile6868Phe) http://identifiers.org/clinvar/203297 ^@ NM_001256850.1(TTN):c.20570C>T (p.Ala6857Val) http://identifiers.org/clinvar/203295 ^@ NM_001256850.1(TTN):c.20381T>C (p.Met6794Thr) http://identifiers.org/clinvar/202294 ^@ NM_001256850.1(TTN):c.20325C>T (p.Thr6775=) http://identifiers.org/clinvar/203294 ^@ NM_001256850.1(TTN):c.20246A>G (p.Lys6749Arg) http://identifiers.org/clinvar/203293 ^@ NM_001256850.1(TTN):c.20051A>G (p.Lys6684Arg) http://identifiers.org/clinvar/202354 ^@ NM_001256850.1(TTN):c.19973C>T (p.Pro6658Leu) http://identifiers.org/clinvar/203292 ^@ NM_001256850.1(TTN):c.19918A>T (p.Met6640Leu) http://identifiers.org/clinvar/203291 ^@ NM_001256850.1(TTN):c.19833A>C (p.Gln6611His) http://identifiers.org/clinvar/203290 ^@ NM_001256850.1(TTN):c.19756A>G (p.Ile6586Val) http://identifiers.org/clinvar/203289 ^@ NM_001256850.1(TTN):c.19687G>A (p.Ala6563Thr) http://identifiers.org/clinvar/203288 ^@ NM_001256850.1(TTN):c.19467A>C (p.Lys6489Asn) http://identifiers.org/clinvar/203286 ^@ NM_001256850.1(TTN):c.19277A>G (p.Gln6426Arg) http://identifiers.org/clinvar/203285 ^@ NM_001256850.1(TTN):c.19234A>C (p.Asn6412His) http://identifiers.org/clinvar/203284 ^@ NM_001256850.1(TTN):c.19219G>A (p.Val6407Ile) http://identifiers.org/clinvar/203283 ^@ NM_001256850.1(TTN):c.19157G>A (p.Arg6386Gln) http://identifiers.org/clinvar/203282 ^@ NM_001256850.1(TTN):c.19106G>A (p.Arg6369Gln) http://identifiers.org/clinvar/203281 ^@ NM_001256850.1(TTN):c.18971C>A (p.Thr6324Asn) http://identifiers.org/clinvar/203280 ^@ NM_001256850.1(TTN):c.18650G>T (p.Arg6217Ile) http://identifiers.org/clinvar/203279 ^@ NM_001256850.1(TTN):c.18577A>G (p.Ile6193Val) http://identifiers.org/clinvar/203278 ^@ NM_001256850.1(TTN):c.18518T>G (p.Met6173Arg) http://identifiers.org/clinvar/203277 ^@ NM_001256850.1(TTN):c.18405C>A (p.Ser6135Arg) http://identifiers.org/clinvar/203276 ^@ NM_001256850.1(TTN):c.18211G>A (p.Val6071Ile) http://identifiers.org/clinvar/203275 ^@ NM_001256850.1(TTN):c.18079G>A (p.Asp6027Asn) http://identifiers.org/clinvar/202352 ^@ NM_001256850.1(TTN):c.17942T>C (p.Ile5981Thr) http://identifiers.org/clinvar/203274 ^@ NM_001256850.1(TTN):c.17851G>C (p.Glu5951Gln) http://identifiers.org/clinvar/203273 ^@ NM_001256850.1(TTN):c.17819A>G (p.His5940Arg) http://identifiers.org/clinvar/203272 ^@ NM_001256850.1(TTN):c.17599G>A (p.Ala5867Thr) http://identifiers.org/clinvar/203271 ^@ NM_001256850.1(TTN):c.17456G>A (p.Arg5819Gln) http://identifiers.org/clinvar/203270 ^@ NM_001256850.1(TTN):c.17428T>G (p.Cys5810Gly) http://identifiers.org/clinvar/203269 ^@ NM_001256850.1(TTN):c.17299T>C (p.Cys5767Arg) http://identifiers.org/clinvar/203268 ^@ NM_001256850.1(TTN):c.17221C>T (p.Arg5741Cys) http://identifiers.org/clinvar/203267 ^@ NM_001256850.1(TTN):c.17120A>G (p.Asn5707Ser) http://identifiers.org/clinvar/203266 ^@ NM_001256850.1(TTN):c.17086T>C (p.Tyr5696His) http://identifiers.org/clinvar/203265 ^@ NM_001256850.1(TTN):c.16942T>C (p.Tyr5648His) http://identifiers.org/clinvar/203264 ^@ NM_001256850.1(TTN):c.16920A>T (p.Gln5640His) http://identifiers.org/clinvar/202351 ^@ NM_001256850.1(TTN):c.16882T>G (p.Ser5628Ala) http://identifiers.org/clinvar/203263 ^@ NM_001256850.1(TTN):c.16522A>G (p.Ile5508Val) http://identifiers.org/clinvar/203262 ^@ NM_001256850.1(TTN):c.16442G>T (p.Gly5481Val) http://identifiers.org/clinvar/203261 ^@ NM_001256850.1(TTN):c.16405A>C (p.Ser5469Arg) http://identifiers.org/clinvar/203260 ^@ NM_001256850.1(TTN):c.16271C>G (p.Ser5424Cys) http://identifiers.org/clinvar/203259 ^@ NM_001256850.1(TTN):c.16058G>C (p.Trp5353Ser) http://identifiers.org/clinvar/203258 ^@ NM_001256850.1(TTN):c.15924C>A (p.Asp5308Glu) http://identifiers.org/clinvar/202350 ^@ NM_001256850.1(TTN):c.15839C>T (p.Ser5280Phe) http://identifiers.org/clinvar/203257 ^@ NM_001256850.1(TTN):c.15566C>T (p.Ser5189Phe) http://identifiers.org/clinvar/203256 ^@ NM_001256850.1(TTN):c.15545C>T (p.Thr5182Ile) http://identifiers.org/clinvar/203254 ^@ NM_001256850.1(TTN):c.15224A>G (p.Lys5075Arg) http://identifiers.org/clinvar/202349 ^@ NM_001256850.1(TTN):c.15206T>C (p.Met5069Thr) http://identifiers.org/clinvar/203253 ^@ NM_001256850.1(TTN):c.15205A>G (p.Met5069Val) http://identifiers.org/clinvar/203252 ^@ NM_001256850.1(TTN):c.15185A>C (p.Lys5062Thr) http://identifiers.org/clinvar/203251 ^@ NM_001256850.1(TTN):c.15145G>A (p.Val5049Met) http://identifiers.org/clinvar/203250 ^@ NM_001256850.1(TTN):c.15059A>G (p.Asn5020Ser) http://identifiers.org/clinvar/203249 ^@ NM_001256850.1(TTN):c.15035G>A (p.Gly5012Asp) http://identifiers.org/clinvar/202348 ^@ NM_001256850.1(TTN):c.15005A>C (p.Lys5002Thr) http://identifiers.org/clinvar/203245 ^@ NM_001256850.1(TTN):c.14544A>C (p.Lys4848Asn) http://identifiers.org/clinvar/203244 ^@ NM_001256850.1(TTN):c.14234G>A (p.Ser4745Asn) http://identifiers.org/clinvar/203243 ^@ NM_001256850.1(TTN):c.14081T>C (p.Ile4694Thr) http://identifiers.org/clinvar/203242 ^@ NM_001256850.1(TTN):c.13960T>G (p.Cys4654Gly) http://identifiers.org/clinvar/203241 ^@ NM_001256850.1(TTN):c.13837C>A (p.Pro4613Thr) http://identifiers.org/clinvar/203240 ^@ NM_001256850.1(TTN):c.13835C>A (p.Pro4612His) http://identifiers.org/clinvar/203239 ^@ NM_001256850.1(TTN):c.13711C>G (p.Pro4571Ala) http://identifiers.org/clinvar/203238 ^@ NM_001256850.1(TTN):c.13703T>C (p.Ile4568Thr) http://identifiers.org/clinvar/203237 ^@ NM_001256850.1(TTN):c.13537A>G (p.Lys4513Glu) http://identifiers.org/clinvar/203236 ^@ NM_001256850.1(TTN):c.13521A>G (p.Ile4507Met) http://identifiers.org/clinvar/203235 ^@ NM_001256850.1(TTN):c.13435A>G (p.Thr4479Ala) http://identifiers.org/clinvar/203234 ^@ NM_001256850.1(TTN):c.13201A>G (p.Lys4401Glu) http://identifiers.org/clinvar/203233 ^@ NM_001256850.1(TTN):c.13099G>A (p.Gly4367Arg) http://identifiers.org/clinvar/202534 ^@ NM_001256850.1(TTN):c.12963T>A (p.Tyr4321Ter) http://identifiers.org/clinvar/203232 ^@ NM_001256850.1(TTN):c.12946A>G (p.Lys4316Glu) http://identifiers.org/clinvar/203231 ^@ NM_001256850.1(TTN):c.12932C>T (p.Ser4311Phe) http://identifiers.org/clinvar/202533 ^@ NM_001256850.1(TTN):c.12868A>G (p.Met4290Val) http://identifiers.org/clinvar/203230 ^@ NM_001256850.1(TTN):c.12739G>A (p.Glu4247Lys) http://identifiers.org/clinvar/203229 ^@ NM_001256850.1(TTN):c.12667G>A (p.Val4223Met) http://identifiers.org/clinvar/202347 ^@ NM_001256850.1(TTN):c.12262G>A (p.Ala4088Thr) http://identifiers.org/clinvar/203228 ^@ NM_001256850.1(TTN):c.12254C>T (p.Ala4085Val) http://identifiers.org/clinvar/202432 ^@ NM_001256850.1(TTN):c.11791C>T (p.Gln3931Ter) http://identifiers.org/clinvar/202511 ^@ NM_001256850.1(TTN):c.11730delC (p.Ser3911Leufs) http://identifiers.org/clinvar/203227 ^@ NM_001256850.1(TTN):c.11461A>G (p.Ile3821Val) http://identifiers.org/clinvar/203226 ^@ NM_001256850.1(TTN):c.11453A>G (p.Asn3818Ser) http://identifiers.org/clinvar/203225 ^@ NM_001256850.1(TTN):c.11267C>T (p.Thr3756Met) http://identifiers.org/clinvar/203224 ^@ NM_001256850.1(TTN):c.11216C>T (p.Pro3739Leu) http://identifiers.org/clinvar/203223 ^@ NM_001256850.1(TTN):c.11162C>A (p.Thr3721Asn) http://identifiers.org/clinvar/203222 ^@ NM_001256850.1(TTN):c.10766A>G (p.Tyr3589Cys) http://identifiers.org/clinvar/203221 ^@ NM_001256850.1(TTN):c.10616A>G (p.Asn3539Ser) http://identifiers.org/clinvar/203220 ^@ NM_001256850.1(TTN):c.10514T>C (p.Phe3505Ser) http://identifiers.org/clinvar/203219 ^@ NM_001256850.1(TTN):c.10361-3877G>A http://identifiers.org/clinvar/202431 ^@ NM_001256850.1(TTN):c.10361-3948G>T http://identifiers.org/clinvar/203218 ^@ NM_001256850.1(TTN):c.10361-4043T>G http://identifiers.org/clinvar/203217 ^@ NM_001256850.1(TTN):c.10361-4086C>T http://identifiers.org/clinvar/203216 ^@ NM_001256850.1(TTN):c.10361-4115C>T http://identifiers.org/clinvar/203215 ^@ NM_001256850.1(TTN):c.10361-4193T>C http://identifiers.org/clinvar/203214 ^@ NM_001256850.1(TTN):c.10361-4381C>A http://identifiers.org/clinvar/203213 ^@ NM_001256850.1(TTN):c.10361-4523A>G http://identifiers.org/clinvar/203212 ^@ NM_001256850.1(TTN):c.10361-4531A>C http://identifiers.org/clinvar/203211 ^@ NM_001256850.1(TTN):c.10361-4755A>G http://identifiers.org/clinvar/203210 ^@ NM_001256850.1(TTN):c.10361-4803G>C http://identifiers.org/clinvar/203209 ^@ NM_001256850.1(TTN):c.10361-4877G>T http://identifiers.org/clinvar/203208 ^@ NM_001256850.1(TTN):c.10361-4991G>A http://identifiers.org/clinvar/203207 ^@ NM_001256850.1(TTN):c.10361-5175A>G http://identifiers.org/clinvar/202293 ^@ NM_001256850.1(TTN):c.10361-5284T>C http://identifiers.org/clinvar/203206 ^@ NM_001256850.1(TTN):c.10361-5357C>G http://identifiers.org/clinvar/202292 ^@ NM_001256850.1(TTN):c.10360+5544G>A http://identifiers.org/clinvar/203205 ^@ NM_001256850.1(TTN):c.10360+5380A>G http://identifiers.org/clinvar/202291 ^@ NM_001256850.1(TTN):c.10360+5340C>T http://identifiers.org/clinvar/203204 ^@ NM_001256850.1(TTN):c.10360+5174A>C http://identifiers.org/clinvar/203203 ^@ NM_001256850.1(TTN):c.10360+4846C>G http://identifiers.org/clinvar/203202 ^@ NM_001256850.1(TTN):c.10360+4732G>A http://identifiers.org/clinvar/203201 ^@ NM_001256850.1(TTN):c.10360+4346A>G http://identifiers.org/clinvar/203200 ^@ NM_001256850.1(TTN):c.10360+4310C>G http://identifiers.org/clinvar/203199 ^@ NM_001256850.1(TTN):c.10360+4244T>C http://identifiers.org/clinvar/203198 ^@ NM_001256850.1(TTN):c.10360+4199A>G http://identifiers.org/clinvar/203197 ^@ NM_001256850.1(TTN):c.10360+4154C>T http://identifiers.org/clinvar/203196 ^@ NM_001256850.1(TTN):c.10360+4013G>A http://identifiers.org/clinvar/203195 ^@ NM_001256850.1(TTN):c.10360+3877G>T http://identifiers.org/clinvar/203194 ^@ NM_001256850.1(TTN):c.10360+3248C>A http://identifiers.org/clinvar/203193 ^@ NM_001256850.1(TTN):c.10360+3137A>C http://identifiers.org/clinvar/203192 ^@ NM_001256850.1(TTN):c.10360+3061A>G http://identifiers.org/clinvar/203191 ^@ NM_001256850.1(TTN):c.10360+3056C>T http://identifiers.org/clinvar/203190 ^@ NM_001256850.1(TTN):c.10360+2774T>C http://identifiers.org/clinvar/203189 ^@ NM_001256850.1(TTN):c.10360+2539C>T http://identifiers.org/clinvar/203188 ^@ NM_001256850.1(TTN):c.10360+2481C>A http://identifiers.org/clinvar/203187 ^@ NM_001256850.1(TTN):c.10360+2377A>C http://identifiers.org/clinvar/203186 ^@ NM_001256850.1(TTN):c.10360+2373T>G http://identifiers.org/clinvar/203185 ^@ NM_001256850.1(TTN):c.10360+2002T>C http://identifiers.org/clinvar/203183 ^@ NM_001256850.1(TTN):c.10360+1903A>G http://identifiers.org/clinvar/203182 ^@ NM_001256850.1(TTN):c.10360+1283C>A http://identifiers.org/clinvar/202290 ^@ NM_133379.4(TTN):c.10361-15_10361-14insG http://identifiers.org/clinvar/202289 ^@ NM_001256850.1(TTN):c.10304-17_10304-16delAT http://identifiers.org/clinvar/202532 ^@ NM_001256850.1(TTN):c.10303+2739C>G http://identifiers.org/clinvar/202507 ^@ NM_133437.4(TTN):c.10670dupG (p.Leu3558Thrfs) http://identifiers.org/clinvar/203181 ^@ NM_001256850.1(TTN):c.10303+2625T>C http://identifiers.org/clinvar/202506 ^@ NM_001267550.2(TTN):c.11044_11045delGT (p.Val3682Phefs) http://identifiers.org/clinvar/203180 ^@ NM_001256850.1(TTN):c.10303+2516A>C http://identifiers.org/clinvar/203179 ^@ NM_001256850.1(TTN):c.10303+2352G>A http://identifiers.org/clinvar/203178 ^@ NM_001256850.1(TTN):c.10303+1422C>T http://identifiers.org/clinvar/203177 ^@ NM_001256850.1(TTN):c.10303+1328G>A http://identifiers.org/clinvar/203176 ^@ NM_001256850.1(TTN):c.10204G>A (p.Glu3402Lys) http://identifiers.org/clinvar/203175 ^@ NM_001256850.1(TTN):c.10067C>T (p.Thr3356Ile) http://identifiers.org/clinvar/203174 ^@ NM_001256850.1(TTN):c.10049C>T (p.Pro3350Leu) http://identifiers.org/clinvar/203173 ^@ NM_001256850.1(TTN):c.9875A>G (p.Gln3292Arg) http://identifiers.org/clinvar/203172 ^@ NM_001256850.1(TTN):c.9851A>G (p.Lys3284Arg) http://identifiers.org/clinvar/202345 ^@ NM_001256850.1(TTN):c.9827A>G (p.Glu3276Gly) http://identifiers.org/clinvar/203171 ^@ NM_001256850.1(TTN):c.9776G>A (p.Cys3259Tyr) http://identifiers.org/clinvar/203170 ^@ NM_001256850.1(TTN):c.9769C>A (p.Arg3257Ser) http://identifiers.org/clinvar/202288 ^@ NM_001256850.1(TTN):c.9703+17T>A http://identifiers.org/clinvar/203169 ^@ NM_001256850.1(TTN):c.9611G>A (p.Arg3204Gln) http://identifiers.org/clinvar/202287 ^@ NM_001256850.1(TTN):c.9472-19delT http://identifiers.org/clinvar/203168 ^@ NM_001256850.1(TTN):c.9359G>C (p.Arg3120Pro) http://identifiers.org/clinvar/203167 ^@ NM_001256850.1(TTN):c.9358C>T (p.Arg3120Trp) http://identifiers.org/clinvar/203166 ^@ NM_001256850.1(TTN):c.9343C>G (p.Leu3115Val) http://identifiers.org/clinvar/202286 ^@ NM_001256850.1(TTN):c.9163+3A>G http://identifiers.org/clinvar/203165 ^@ NM_001256850.1(TTN):c.9154T>C (p.Tyr3052His) http://identifiers.org/clinvar/202285 ^@ NM_001256850.1(TTN):c.8902+13_8902+14delAT http://identifiers.org/clinvar/202504 ^@ NM_133378.4(TTN):c.8884delG (p.Ala2962Profs) http://identifiers.org/clinvar/203164 ^@ NM_001256850.1(TTN):c.8710G>A (p.Glu2904Lys) http://identifiers.org/clinvar/203163 ^@ NM_001256850.1(TTN):c.8685G>C (p.Glu2895Asp) http://identifiers.org/clinvar/203162 ^@ NM_001256850.1(TTN):c.8660C>A (p.Thr2887Asn) http://identifiers.org/clinvar/202344 ^@ NM_001256850.1(TTN):c.8641A>C (p.Thr2881Pro) http://identifiers.org/clinvar/203161 ^@ NM_001256850.1(TTN):c.8596G>A (p.Ala2866Thr) http://identifiers.org/clinvar/203160 ^@ NM_001256850.1(TTN):c.8539A>G (p.Lys2847Glu) http://identifiers.org/clinvar/203159 ^@ NM_001256850.1(TTN):c.8459A>G (p.His2820Arg) http://identifiers.org/clinvar/202430 ^@ NM_001256850.1(TTN):c.8380+1G>A http://identifiers.org/clinvar/203158 ^@ NM_001256850.1(TTN):c.7916T>G (p.Phe2639Cys) http://identifiers.org/clinvar/203157 ^@ NM_001256850.1(TTN):c.7864A>G (p.Ile2622Val) http://identifiers.org/clinvar/203156 ^@ NM_001256850.1(TTN):c.7816G>A (p.Ala2606Thr) http://identifiers.org/clinvar/203155 ^@ NM_001256850.1(TTN):c.7758A>G (p.Ile2586Met) http://identifiers.org/clinvar/203154 ^@ NM_001256850.1(TTN):c.7738A>G (p.Ile2580Val) http://identifiers.org/clinvar/203153 ^@ NM_001256850.1(TTN):c.7682T>C (p.Ile2561Thr) http://identifiers.org/clinvar/202343 ^@ NM_001256850.1(TTN):c.7628C>G (p.Thr2543Ser) http://identifiers.org/clinvar/202503 ^@ NM_001256850.1(TTN):c.7391_7393dupTTG (p.Leu2464_Glu2465insVal) http://identifiers.org/clinvar/202544 ^@ NM_001256850.1(TTN):c.7365_7374delTGTGATTGAA (p.Asn2455Lysfs) http://identifiers.org/clinvar/203152 ^@ NM_001256850.1(TTN):c.7316G>A (p.Arg2439His) http://identifiers.org/clinvar/203151 ^@ NM_001256850.1(TTN):c.6938C>G (p.Thr2313Arg) http://identifiers.org/clinvar/203150 ^@ NM_001256850.1(TTN):c.6899A>G (p.Tyr2300Cys) http://identifiers.org/clinvar/203149 ^@ NM_001256850.1(TTN):c.6851G>C (p.Gly2284Ala) http://identifiers.org/clinvar/203148 ^@ NM_001256850.1(TTN):c.6826A>G (p.Ile2276Val) http://identifiers.org/clinvar/203146 ^@ NM_001256850.1(TTN):c.6462C>G (p.Ile2154Met) http://identifiers.org/clinvar/203145 ^@ NM_001256850.1(TTN):c.6368G>A (p.Arg2123Gln) http://identifiers.org/clinvar/203144 ^@ NM_001256850.1(TTN):c.6359G>T (p.Arg2120Leu) http://identifiers.org/clinvar/203143 ^@ NM_001256850.1(TTN):c.6250A>G (p.Ile2084Val) http://identifiers.org/clinvar/203142 ^@ NM_001256850.1(TTN):c.6041C>T (p.Thr2014Ile) http://identifiers.org/clinvar/203141 ^@ NM_001256850.1(TTN):c.5875T>A (p.Phe1959Ile) http://identifiers.org/clinvar/203140 ^@ NM_001256850.1(TTN):c.5851G>A (p.Val1951Ile) http://identifiers.org/clinvar/203139 ^@ NM_001256850.1(TTN):c.5797G>A (p.Glu1933Lys) http://identifiers.org/clinvar/203138 ^@ NM_001256850.1(TTN):c.5698G>A (p.Val1900Met) http://identifiers.org/clinvar/203137 ^@ NM_001256850.1(TTN):c.5683C>T (p.His1895Tyr) http://identifiers.org/clinvar/203136 ^@ NM_001256850.1(TTN):c.5577G>T (p.Arg1859Ser) http://identifiers.org/clinvar/203135 ^@ NM_001256850.1(TTN):c.5534T>G (p.Leu1845Trp) http://identifiers.org/clinvar/203134 ^@ NM_001256850.1(TTN):c.5464A>C (p.Met1822Leu) http://identifiers.org/clinvar/203133 ^@ NM_001256850.1(TTN):c.4990C>T (p.Arg1664Trp) http://identifiers.org/clinvar/202501 ^@ NM_001256850.1(TTN):c.4724_4728delTGAAA (p.Met1575Serfs) http://identifiers.org/clinvar/203132 ^@ NM_001256850.1(TTN):c.4612A>G (p.Arg1538Gly) http://identifiers.org/clinvar/203131 ^@ NM_001256850.1(TTN):c.4526A>C (p.Glu1509Ala) http://identifiers.org/clinvar/203130 ^@ NM_001256850.1(TTN):c.4441G>A (p.Val1481Ile) http://identifiers.org/clinvar/203129 ^@ NM_001256850.1(TTN):c.4289C>A (p.Ala1430Glu) http://identifiers.org/clinvar/203128 ^@ NM_001256850.1(TTN):c.4270C>T (p.Pro1424Ser) http://identifiers.org/clinvar/203127 ^@ NM_001256850.1(TTN):c.4262G>A (p.Arg1421Gln) http://identifiers.org/clinvar/203126 ^@ NM_001256850.1(TTN):c.4247G>C (p.Arg1416Pro) http://identifiers.org/clinvar/203125 ^@ NM_001256850.1(TTN):c.4247G>A (p.Arg1416His) http://identifiers.org/clinvar/202342 ^@ NM_001256850.1(TTN):c.4142T>C (p.Val1381Ala) http://identifiers.org/clinvar/203124 ^@ NM_001256850.1(TTN):c.4130G>A (p.Gly1377Glu) http://identifiers.org/clinvar/203123 ^@ NM_001256850.1(TTN):c.4081A>G (p.Ile1361Val) http://identifiers.org/clinvar/203122 ^@ NM_001256850.1(TTN):c.3989G>A (p.Arg1330His) http://identifiers.org/clinvar/203121 ^@ NM_001256850.1(TTN):c.3899A>G (p.Tyr1300Cys) http://identifiers.org/clinvar/203120 ^@ NM_001256850.1(TTN):c.3835A>T (p.Met1279Leu) http://identifiers.org/clinvar/203109 ^@ NM_001256850.1(TTN):c.3716A>C (p.Tyr1239Ser) http://identifiers.org/clinvar/203106 ^@ NM_001256850.1(TTN):c.3619C>A (p.Pro1207Thr) http://identifiers.org/clinvar/203103 ^@ NM_001256850.1(TTN):c.3533A>C (p.Glu1178Ala) http://identifiers.org/clinvar/202974 ^@ NM_001256850.1(TTN):c.3271C>G (p.Gln1091Glu) http://identifiers.org/clinvar/202962 ^@ NM_001256850.1(TTN):c.3170T>C (p.Val1057Ala) http://identifiers.org/clinvar/202417 ^@ NM_001256850.1(TTN):c.3100+5G>A http://identifiers.org/clinvar/202945 ^@ NM_001256850.1(TTN):c.3027C>A (p.Asp1009Glu) http://identifiers.org/clinvar/202943 ^@ NM_001256850.1(TTN):c.3003G>A (p.Met1001Ile) http://identifiers.org/clinvar/202483 ^@ NM_001256850.1(TTN):c.2868delA (p.Gly957Valfs) http://identifiers.org/clinvar/202540 ^@ NM_001256850.1(TTN):c.2804dupC (p.Val936Cysfs) http://identifiers.org/clinvar/202868 ^@ NM_001256850.1(TTN):c.2764C>T (p.Arg922Cys) http://identifiers.org/clinvar/202328 ^@ NM_001267550.2(TTN):c.2744G>A (p.Arg915His) http://identifiers.org/clinvar/202866 ^@ NM_001256850.1(TTN):c.2734C>T (p.Arg912Cys) http://identifiers.org/clinvar/202787 ^@ NM_001256850.1(TTN):c.2477C>T (p.Thr826Ile) http://identifiers.org/clinvar/202783 ^@ NM_001256850.1(TTN):c.2386G>A (p.Asp796Asn) http://identifiers.org/clinvar/202774 ^@ NM_001256850.1(TTN):c.2310G>T (p.Gln770His) http://identifiers.org/clinvar/202772 ^@ NM_001256850.1(TTN):c.2255G>A (p.Arg752His) http://identifiers.org/clinvar/202278 ^@ NM_001256850.1(TTN):c.2230G>A (p.Ala744Thr) http://identifiers.org/clinvar/202437 ^@ NM_001256850.1(TTN):c.1758_1763delAACTACinsT (p.Glu586Aspfs) http://identifiers.org/clinvar/202618 ^@ NM_001256850.1(TTN):c.1754A>G (p.Glu585Gly) http://identifiers.org/clinvar/202265 ^@ NM_001256850.1(TTN):c.1743G>A (p.Pro581=) http://identifiers.org/clinvar/202609 ^@ NM_001256850.1(TTN):c.1622A>C (p.Glu541Ala) http://identifiers.org/clinvar/202607 ^@ NM_001256850.1(TTN):c.1616T>A (p.Ile539Asn) http://identifiers.org/clinvar/202362 ^@ NM_001256850.1(TTN):c.1513C>T (p.Gln505Ter) http://identifiers.org/clinvar/202583 ^@ NM_001256850.1(TTN):c.1168G>A (p.Gly390Ser) http://identifiers.org/clinvar/202582 ^@ NM_001256850.1(TTN):c.1066G>C (p.Glu356Gln) http://identifiers.org/clinvar/202578 ^@ NM_001256850.1(TTN):c.974T>C (p.Leu325Ser) http://identifiers.org/clinvar/203296 ^@ NM_001256850.1(TTN):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/203287 ^@ NM_001256850.1(TTN):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/202433 ^@ NM_001256850.1(TTN):c.658C>T (p.Arg220Ter) http://identifiers.org/clinvar/202353 ^@ NM_001256850.1(TTN):c.595G>A (p.Val199Ile) http://identifiers.org/clinvar/203255 ^@ NM_001256850.1(TTN):c.565G>T (p.Ala189Ser) http://identifiers.org/clinvar/203248 ^@ NM_001256850.1(TTN):c.485T>A (p.Leu162Gln) http://identifiers.org/clinvar/202513 ^@ NM_001256850.1(TTN):c.475_476insG (p.Tyr159Terfs) http://identifiers.org/clinvar/203247 ^@ NM_001256850.1(TTN):c.416G>A (p.Arg139Gln) http://identifiers.org/clinvar/203246 ^@ NM_001256850.1(TTN):c.415C>T (p.Arg139Trp) http://identifiers.org/clinvar/202346 ^@ NM_001256850.1(TTN):c.295+15A>C http://identifiers.org/clinvar/203184 ^@ NM_001256850.1(TTN):c.187G>A (p.Ala63Thr) http://identifiers.org/clinvar/203147 ^@ NM_001256850.1(TTN):c.26C>T (p.Thr9Met) http://identifiers.org/clinvar/203374 ^@ NM_001035.2(RYR2):c.2306G>T (p.Arg769Leu) http://identifiers.org/clinvar/203383 ^@ NM_004501.3(HNRNPU):c.2247_2248delAG (p.Gly750Glufs) http://identifiers.org/clinvar/203371 ^@ NM_194248.2(OTOF):c.2034_2042dupTGCCGGGGA (p.Asp681_Leu682insAlaGlyAsp) http://identifiers.org/clinvar/203384 ^@ NM_003764.3(STX11):c.391C>T (p.Gln131Ter) http://identifiers.org/clinvar/203376 ^@ NM_020745.3(AARS2):c.1660C>T (p.Arg554Cys) http://identifiers.org/clinvar/203395 ^@ NM_012434.4(SLC17A5):c.409delA (p.Met137Cysfs) http://identifiers.org/clinvar/203365 ^@ NM_004415.3(DSP):c.274-3C>G http://identifiers.org/clinvar/203375 ^@ NM_001101.3(ACTB):c.123+1G>A http://identifiers.org/clinvar/203390 ^@ NM_000466.2(PEX1):c.3379dupC (p.Arg1127Profs) http://identifiers.org/clinvar/203387 ^@ NM_015404.3(WHRN):c.2027C>G (p.Pro676Arg) http://identifiers.org/clinvar/203378 ^@ NM_016219.4(MAN1B1):c.1276_1277delCA (p.Gln426Alafs) http://identifiers.org/clinvar/203367 ^@ NM_001609.3(ACADSB):c.303+1G>A http://identifiers.org/clinvar/203362 ^@ NM_007055.3(POLR3A):c.3436G>A (p.Ala1146Thr) http://identifiers.org/clinvar/203361 ^@ NM_000235.3(LIPA):c.894G>A (p.Gln298=) http://identifiers.org/clinvar/203388 ^@ NM_001277269.1(OTOG):c.7003C>T (p.Arg2335Trp) http://identifiers.org/clinvar/203394 ^@ NM_005609.3(PYGM):c.1094C>T (p.Ala365Val) http://identifiers.org/clinvar/203393 ^@ NM_032193.3(RNASEH2C):c.434G>C (p.Arg145Pro) http://identifiers.org/clinvar/203392 ^@ NM_032193.3(RNASEH2C):c.178dupG (p.Glu60Glyfs) http://identifiers.org/clinvar/203372 ^@ NM_007129.3(ZIC2):c.1245T>G (p.His415Gln) http://identifiers.org/clinvar/203385 ^@ NM_152443.2(RDH12):c.63_66delCATC (p.Ile22Glyfs) http://identifiers.org/clinvar/203369 ^@ NM_025137.3(SPG11):c.1270C>A (p.Pro424Thr) http://identifiers.org/clinvar/203373 ^@ NM_002474.2(MYH11):c.5213T>C (p.Ile1738Thr) http://identifiers.org/clinvar/203381 ^@ NM_001089.2(ABCA3):c.875A>T (p.Glu292Val) http://identifiers.org/clinvar/203368 ^@ NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) http://identifiers.org/clinvar/203363 ^@ NM_016239.3(MYO15A):c.3311dupG (p.Glu1105Terfs) http://identifiers.org/clinvar/203364 ^@ NM_016239.3(MYO15A):c.5925G>A (p.Trp1975Ter) http://identifiers.org/clinvar/203389 ^@ NM_016239.3(MYO15A):c.10054G>A (p.Ala3352Thr) http://identifiers.org/clinvar/203386 ^@ NM_004247.3(EFTUD2):c.764dupT (p.Cys256Valfs) http://identifiers.org/clinvar/203370 ^@ NM_024729.3(MYH14):c.3506G>A (p.Arg1169Gln) http://identifiers.org/clinvar/203366 ^@ NM_003098.2(SNTA1):c.1204C>T (p.Arg402Trp) http://identifiers.org/clinvar/203379 ^@ NM_033517.1(SHANK3):c.317A>C (p.Gln106Pro) http://identifiers.org/clinvar/203380 ^@ NM_033517.1(SHANK3):c.815A>G (p.Tyr272Cys) http://identifiers.org/clinvar/203377 ^@ NM_004493.2(HSD17B10):c.218C>G (p.Thr73Arg) http://identifiers.org/clinvar/203396 ^@ NM_000485.2(APRT):c.400+2dupT http://identifiers.org/clinvar/203424 ^@ NM_000543.4(SMPD1):c.416T>C (p.Leu139Pro) http://identifiers.org/clinvar/203425 ^@ NM_000543.4(SMPD1):c.592G>C (p.Ala198Pro) http://identifiers.org/clinvar/203422 ^@ NM_000543.4(SMPD1):c.971C>T (p.Thr324Ile) http://identifiers.org/clinvar/203427 ^@ NM_000543.4(SMPD1):c.1076C>A (p.Ala359Asp) http://identifiers.org/clinvar/203423 ^@ NM_000543.4(SMPD1):c.1522G>C (p.Gly508Arg) http://identifiers.org/clinvar/203428 ^@ NM_000543.4(SMPD1):c.1734G>C (p.Lys578Asn) http://identifiers.org/clinvar/203405 ^@ NC_000001.9:g.(?_122727790)_(122920857_?)del http://identifiers.org/clinvar/203406 ^@ NC_000015.8:g.(?_6207329)_(26103882_?)del http://identifiers.org/clinvar/203407 ^@ GRCh38/hg38 10q22.3(chr10:79491821-79798351)x3 http://identifiers.org/clinvar/203408 ^@ NC_000007.12:g.(?_74381487)_(74594440_?)dup http://identifiers.org/clinvar/203409 ^@ NC_000001.9:g.(?_142444242)_(142683157_?)del http://identifiers.org/clinvar/203412 ^@ NM_017999.4(RNF31):c.215T>C (p.Leu72Pro) http://identifiers.org/clinvar/203426 ^@ NM_000543.4(SMPD1):c.874C>A (p.Gln292Lys) http://identifiers.org/clinvar/203435 ^@ NM_013254.3(TBK1):c.1349_1352delTTAA (p.Ile450Lysfs) http://identifiers.org/clinvar/203436 ^@ NM_013254.3(TBK1):c.1436_1437delTG (p.Val479Glufs) http://identifiers.org/clinvar/203437 ^@ NM_013254.3(TBK1):c.2138+2T>C http://identifiers.org/clinvar/203438 ^@ NM_013254.3(TBK1):c.958delA (p.Thr320Glnfs) http://identifiers.org/clinvar/203439 ^@ NM_013254.3(TBK1):c.1340+1G>A http://identifiers.org/clinvar/203440 ^@ NM_013254.3(TBK1):c.2086G>A (p.Glu696Lys) http://identifiers.org/clinvar/203441 ^@ NM_013254.3(TBK1):c.1201A>G (p.Lys401Glu) http://identifiers.org/clinvar/203442 ^@ NM_001693.3(ATP6V1B2):c.1516C>T (p.Arg506Ter) http://identifiers.org/clinvar/203444 ^@ NM_001034850.2(RETREG1):c.826delA (p.Ser276Valfs) http://identifiers.org/clinvar/203445 ^@ NM_030973.3(MED25):c.116A>G (p.Tyr39Cys) http://identifiers.org/clinvar/203449 ^@ NM_001010867.3(IBA57):c.678A>G (p.Gln226=) http://identifiers.org/clinvar/203459 ^@ NM_002087.3(GRN):c.87dupC (p.Cys30Leufs) http://identifiers.org/clinvar/203455 ^@ NM_002087.3(GRN):c.462+1G>C http://identifiers.org/clinvar/203460 ^@ NM_002087.3(GRN):c.708+1G>A http://identifiers.org/clinvar/203456 ^@ NM_002087.3(GRN):c.882T>G (p.Tyr294Ter) http://identifiers.org/clinvar/203457 ^@ NM_002087.3(GRN):c.1212C>A (p.Cys404Ter) http://identifiers.org/clinvar/203458 ^@ NM_002087.3(GRN):c.1246dupT (p.Cys416Leufs) http://identifiers.org/clinvar/203461 ^@ NM_032415.5(CARD11):c.146G>A (p.Cys49Tyr) http://identifiers.org/clinvar/203462 ^@ NM_000038.5(APC):c.423-5_423-3delAAT http://identifiers.org/clinvar/203463 ^@ NM_015425.4(POLR1A):c.1777G>C (p.Glu593Gln) http://identifiers.org/clinvar/203464 ^@ NM_015425.4(POLR1A):c.3649delC (p.Gln1217Argfs) http://identifiers.org/clinvar/203465 ^@ NM_004341.4(CAD):c.1843-1G>A http://identifiers.org/clinvar/203466 ^@ NP_001293008.1:p.Arg2024Gln http://identifiers.org/clinvar/203467 ^@ NM_000165.4(GJA1):c.23G>T (p.Gly8Val) http://identifiers.org/clinvar/203468 ^@ NM_000165.4(GJA1):c.681A>T (p.Glu227Asp) http://identifiers.org/clinvar/203469 ^@ NM_000165.4(GJA1):c.131C>T (p.Ala44Val) http://identifiers.org/clinvar/203471 ^@ NM_002470.3(MYH3):c.3224A>C (p.Gln1075Pro) http://identifiers.org/clinvar/203472 ^@ NM_002470.3(MYH3):c.727_729delTCC (p.Ser243del) http://identifiers.org/clinvar/203489 ^@ NM_003239.4(TGFB3):c.754+2T>C http://identifiers.org/clinvar/203490 ^@ NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) http://identifiers.org/clinvar/203491 ^@ NM_003239.4(TGFB3):c.704delA (p.Asn235Metfs) http://identifiers.org/clinvar/203492 ^@ NM_003239.4(TGFB3):c.787G>C (p.Asp263His) http://identifiers.org/clinvar/203493 ^@ NM_003873.5(NRP1):c.248+2T>G http://identifiers.org/clinvar/203494 ^@ NM_002742.2(PRKD1):c.1852C>T (p.Arg618Ter) http://identifiers.org/clinvar/203497 ^@ NM_003850.2(SUCLA2):c.*14T>A http://identifiers.org/clinvar/203515 ^@ NM_000417.2(IL2RA):c.301C>T (p.Gln101Ter) http://identifiers.org/clinvar/203516 ^@ NM_000417.2(IL2RA):c.692dupA (p.Thr232Aspfs) http://identifiers.org/clinvar/203517 ^@ NM_000417.2(IL2RA):c.497G>A (p.Ser166Asn) http://identifiers.org/clinvar/203518 ^@ NM_000417.2(IL2RA):c.122A>C (p.Tyr41Ser) http://identifiers.org/clinvar/203519 ^@ NM_144670.5(A2ML1):c.2405G>A (p.Arg802His) http://identifiers.org/clinvar/203520 ^@ NM_144670.5(A2ML1):c.2405G>T (p.Arg802Leu) http://identifiers.org/clinvar/203521 ^@ NM_144670.5(A2ML1):c.1775G>T (p.Arg592Leu) http://identifiers.org/clinvar/203533 ^@ NM_145207.2(SPATA5):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/203534 ^@ NM_145207.2(SPATA5):c.251G>A (p.Arg84Gln) http://identifiers.org/clinvar/203536 ^@ NM_145207.2(SPATA5):c.298G>A (p.Ala100Thr) http://identifiers.org/clinvar/203535 ^@ NM_145207.2(SPATA5):c.1159C>T (p.Pro387Ser) http://identifiers.org/clinvar/203527 ^@ NM_145207.2(SPATA5):c.1343C>T (p.Ser448Leu) http://identifiers.org/clinvar/203529 ^@ NM_145207.2(SPATA5):c.1574_1578delATGCT (p.Asn525Thrfs) http://identifiers.org/clinvar/203524 ^@ NM_145207.2(SPATA5):c.1883A>G (p.Asp628Gly) http://identifiers.org/clinvar/203526 ^@ NM_145207.2(SPATA5):c.1964G>A (p.Arg655Gln) http://identifiers.org/clinvar/203530 ^@ NM_145207.2(SPATA5):c.2531C>T (p.Ala844Val) http://identifiers.org/clinvar/203781 ^@ NM_005518.3(HMGCS2):c.685+2T>A http://identifiers.org/clinvar/203780 ^@ NM_005518.3(HMGCS2):c.364G>A (p.Asp122Asn) http://identifiers.org/clinvar/203779 ^@ NM_005518.3(HMGCS2):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/203778 ^@ NM_005518.3(HMGCS2):c.73C>G (p.Pro25Ala) http://identifiers.org/clinvar/203839 ^@ NM_000254.2(MTR):c.3079C>T (p.Arg1027Trp) http://identifiers.org/clinvar/203824 ^@ NM_015506.2(MMACHC):c.181C>T (p.Arg61Trp) http://identifiers.org/clinvar/203825 ^@ NM_015506.2(MMACHC):c.217C>T (p.Arg73Ter) http://identifiers.org/clinvar/203826 ^@ NM_015506.2(MMACHC):c.316G>A (p.Glu106Lys) http://identifiers.org/clinvar/203835 ^@ NM_015506.2(MMACHC):c.328_331delAACC (p.Asn110Aspfs) http://identifiers.org/clinvar/203833 ^@ NM_015506.2(MMACHC):c.388_390delTAC (p.Tyr130del) http://identifiers.org/clinvar/203827 ^@ NM_015506.2(MMACHC):c.420G>A (p.Trp140Ter) http://identifiers.org/clinvar/203829 ^@ NM_015506.2(MMACHC):c.440G>A (p.Gly147Asp) http://identifiers.org/clinvar/203828 ^@ NM_015506.2(MMACHC):c.440G>C (p.Gly147Ala) http://identifiers.org/clinvar/203834 ^@ NM_015506.2(MMACHC):c.445_446delTG (p.Cys149Hisfs) http://identifiers.org/clinvar/203666 ^@ NM_000098.2(CPT2):c.353A>G (p.Asp118Gly) http://identifiers.org/clinvar/203659 ^@ NM_000098.2(CPT2):c.370C>T (p.Arg124Ter) http://identifiers.org/clinvar/203662 ^@ NM_000098.2(CPT2):c.1048C>T (p.Arg350Cys) http://identifiers.org/clinvar/203657 ^@ NM_000098.2(CPT2):c.1598T>C (p.Val533Ala) http://identifiers.org/clinvar/203658 ^@ NM_000098.2(CPT2):c.1964C>A (p.Ser655Tyr) http://identifiers.org/clinvar/203548 ^@ NM_000016.5(ACADM):c.426delG (p.Lys143Argfs) http://identifiers.org/clinvar/203538 ^@ NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) http://identifiers.org/clinvar/203539 ^@ NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) http://identifiers.org/clinvar/203540 ^@ NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) http://identifiers.org/clinvar/203549 ^@ NM_000016.5(ACADM):c.882_883delAG (p.Arg294Serfs) http://identifiers.org/clinvar/203542 ^@ NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) http://identifiers.org/clinvar/203543 ^@ NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) http://identifiers.org/clinvar/203837 ^@ NM_015702.2(MMADHC):c.646C>G (p.Arg216Gly) http://identifiers.org/clinvar/203836 ^@ NM_015702.2(MMADHC):c.453G>A (p.Gln151=) http://identifiers.org/clinvar/203647 ^@ NM_001875.4(CPS1):c.-4_-3insTTC http://identifiers.org/clinvar/203644 ^@ NM_001875.4(CPS1):c.486T>C (p.Tyr162=) http://identifiers.org/clinvar/203645 ^@ NM_001875.4(CPS1):c.1214C>A (p.Thr405Asn) http://identifiers.org/clinvar/203649 ^@ NM_001875.4(CPS1):c.1913G>C (p.Arg638Pro) http://identifiers.org/clinvar/203650 ^@ NM_001875.4(CPS1):c.2407C>A (p.Arg803Ser) http://identifiers.org/clinvar/203646 ^@ NM_001875.4(CPS1):c.4275-10A>G http://identifiers.org/clinvar/203740 ^@ NM_000182.4(HADHA):c.2146+16T>C http://identifiers.org/clinvar/203745 ^@ NM_000182.4(HADHA):c.1916_1919dupATCA (p.Glu641Serfs) http://identifiers.org/clinvar/203739 ^@ NM_000182.4(HADHA):c.1690-6G>A http://identifiers.org/clinvar/203747 ^@ NM_000182.4(HADHA):c.1668_1674dupTGAAGTC (p.Ile559Terfs) http://identifiers.org/clinvar/203738 ^@ NM_000182.4(HADHA):c.1392+10G>A http://identifiers.org/clinvar/203744 ^@ NM_000182.4(HADHA):c.982G>A (p.Gly328Arg) http://identifiers.org/clinvar/203737 ^@ NM_000182.4(HADHA):c.573+8dupT http://identifiers.org/clinvar/203746 ^@ NM_000182.4(HADHA):c.407C>G (p.Pro136Arg) http://identifiers.org/clinvar/203741 ^@ NM_000182.4(HADHA):c.-25C>G http://identifiers.org/clinvar/203748 ^@ NM_000183.2(HADHB):c.780C>T (p.Leu260=) http://identifiers.org/clinvar/203749 ^@ NM_000183.2(HADHB):c.812-5A>T http://identifiers.org/clinvar/203750 ^@ NM_000183.2(HADHB):c.830A>G (p.Lys277Arg) http://identifiers.org/clinvar/203751 ^@ NM_000183.2(HADHB):c.891C>T (p.Ile297=) http://identifiers.org/clinvar/203752 ^@ NM_000183.2(HADHB):c.1059delT (p.Gly354Aspfs) http://identifiers.org/clinvar/203810 ^@ NM_032601.3(MCEE):c.427C>T (p.Arg143Cys) http://identifiers.org/clinvar/203812 ^@ NM_032601.3(MCEE):c.178A>C (p.Lys60Gln) http://identifiers.org/clinvar/203977 ^@ NM_003849.3(SUCLG1):c.1010A>G (p.Tyr337Cys) http://identifiers.org/clinvar/203976 ^@ NM_003849.3(SUCLG1):c.952C>T (p.Leu318Phe) http://identifiers.org/clinvar/203967 ^@ NM_003849.3(SUCLG1):c.900C>T (p.Ala300=) http://identifiers.org/clinvar/203975 ^@ NM_003849.3(SUCLG1):c.851C>T (p.Ser284Phe) http://identifiers.org/clinvar/203974 ^@ NM_003849.3(SUCLG1):c.776G>A (p.Gly259Asp) http://identifiers.org/clinvar/203966 ^@ NM_003849.3(SUCLG1):c.502A>G (p.Ile168Val) http://identifiers.org/clinvar/203980 ^@ NM_003849.3(SUCLG1):c.481C>T (p.Arg161Cys) http://identifiers.org/clinvar/203973 ^@ NM_003849.3(SUCLG1):c.341C>T (p.Thr114Met) http://identifiers.org/clinvar/203979 ^@ NM_003849.3(SUCLG1):c.302T>G (p.Phe101Cys) http://identifiers.org/clinvar/203972 ^@ NM_003849.3(SUCLG1):c.238A>C (p.Thr80Pro) http://identifiers.org/clinvar/203970 ^@ NM_003849.3(SUCLG1):c.236G>A (p.Gly79Asp) http://identifiers.org/clinvar/203969 ^@ NM_003849.3(SUCLG1):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/203968 ^@ NM_003849.3(SUCLG1):c.110G>C (p.Gly37Ala) http://identifiers.org/clinvar/203978 ^@ NM_003849.3(SUCLG1):c.40A>G (p.Met14Val) http://identifiers.org/clinvar/203883 ^@ NM_000532.4(PCCB):c.49C>A (p.Leu17Met) http://identifiers.org/clinvar/203885 ^@ NM_000532.4(PCCB):c.649dupG (p.Val217Glyfs) http://identifiers.org/clinvar/203886 ^@ NM_000532.4(PCCB):c.764-2delA http://identifiers.org/clinvar/203882 ^@ NM_000532.4(PCCB):c.942C>A (p.Tyr314Ter) http://identifiers.org/clinvar/203887 ^@ NM_000532.4(PCCB):c.975_977delTGA (p.Asp325del) http://identifiers.org/clinvar/203892 ^@ NM_000532.4(PCCB):c.1384G>A (p.Val462Ile) http://identifiers.org/clinvar/203642 ^@ NM_000060.4(BTD):c.1612C>A (p.Arg538Ser) http://identifiers.org/clinvar/203800 ^@ NM_020166.4(MCCC1):c.2085delG (p.Val697Cysfs) http://identifiers.org/clinvar/203799 ^@ NM_020166.4(MCCC1):c.1363delC (p.Leu455Phefs) http://identifiers.org/clinvar/203798 ^@ NM_020166.4(MCCC1):c.1193_1194delTG (p.Val398Glyfs) http://identifiers.org/clinvar/203795 ^@ NM_020166.4(MCCC1):c.841C>T (p.Arg281Ter) http://identifiers.org/clinvar/203797 ^@ NM_020166.4(MCCC1):c.137G>A (p.Gly46Glu) http://identifiers.org/clinvar/203942 ^@ NM_000387.5(SLC25A20):c.61G>A (p.Gly21Ser) http://identifiers.org/clinvar/203941 ^@ NM_000387.5(SLC25A20):c.10C>T (p.Gln4Ter) http://identifiers.org/clinvar/203814 ^@ NM_172250.2(MMAA):c.387C>A (p.Tyr129Ter) http://identifiers.org/clinvar/203815 ^@ NM_172250.2(MMAA):c.593_596delCTGA (p.Thr198Serfs) http://identifiers.org/clinvar/203816 ^@ NM_172250.2(MMAA):c.988C>T (p.Arg330Ter) http://identifiers.org/clinvar/203709 ^@ NM_004453.3(ETFDH):c.22C>G (p.Leu8Val) http://identifiers.org/clinvar/203710 ^@ NM_004453.3(ETFDH):c.38A>G (p.Tyr13Cys) http://identifiers.org/clinvar/203711 ^@ NM_004453.3(ETFDH):c.91A>G (p.Thr31Ala) http://identifiers.org/clinvar/203726 ^@ NM_004453.3(ETFDH):c.175+1G>C http://identifiers.org/clinvar/203731 ^@ NM_004453.3(ETFDH):c.213_215delTGT (p.Val72del) http://identifiers.org/clinvar/203727 ^@ NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs) http://identifiers.org/clinvar/203712 ^@ NM_004453.3(ETFDH):c.380T>C (p.Leu127Pro) http://identifiers.org/clinvar/203730 ^@ NM_004453.3(ETFDH):c.405+3A>T http://identifiers.org/clinvar/203728 ^@ NM_004453.3(ETFDH):c.485_487+14delinsT http://identifiers.org/clinvar/203713 ^@ NM_004453.3(ETFDH):c.524G>C (p.Arg175Pro) http://identifiers.org/clinvar/203714 ^@ NM_004453.3(ETFDH):c.568C>A (p.Leu190Ile) http://identifiers.org/clinvar/203715 ^@ NM_004453.3(ETFDH):c.572G>A (p.Gly191Asp) http://identifiers.org/clinvar/203716 ^@ NM_004453.3(ETFDH):c.733G>A (p.Ala245Thr) http://identifiers.org/clinvar/203717 ^@ NM_004453.3(ETFDH):c.739G>C (p.Gly247Arg) http://identifiers.org/clinvar/203706 ^@ NM_004453.3(ETFDH):c.860A>G (p.Lys287Arg) http://identifiers.org/clinvar/203718 ^@ NM_004453.3(ETFDH):c.929A>G (p.Tyr310Cys) http://identifiers.org/clinvar/203720 ^@ NM_004453.3(ETFDH):c.1073G>A (p.Arg358Lys) http://identifiers.org/clinvar/203721 ^@ NM_004453.3(ETFDH):c.1079C>T (p.Ala360Val) http://identifiers.org/clinvar/203723 ^@ NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr) http://identifiers.org/clinvar/203707 ^@ NM_004453.3(ETFDH):c.1468+15A>C http://identifiers.org/clinvar/203708 ^@ NM_004453.3(ETFDH):c.1480G>C (p.Glu494Gln) http://identifiers.org/clinvar/203724 ^@ NM_004453.3(ETFDH):c.1809G>A (p.Trp603Ter) http://identifiers.org/clinvar/203933 ^@ NM_003060.3(SLC22A5):c.42G>A (p.Trp14Ter) http://identifiers.org/clinvar/203929 ^@ NM_003060.3(SLC22A5):c.1053-2A>C http://identifiers.org/clinvar/203931 ^@ NM_003060.3(SLC22A5):c.1451G>T (p.Gly484Val) http://identifiers.org/clinvar/203937 ^@ NM_003060.3(SLC22A5):c.1595_1604dupACAGAAAAAC (p.Pro536Glnfs) http://identifiers.org/clinvar/203802 ^@ NM_022132.4(MCCC2):c.1000-14_1000-12delGTT http://identifiers.org/clinvar/203805 ^@ NM_022132.4(MCCC2):c.1015G>A (p.Val339Met) http://identifiers.org/clinvar/203806 ^@ NM_022132.4(MCCC2):c.1065A>T (p.Leu355Phe) http://identifiers.org/clinvar/203808 ^@ NM_022132.4(MCCC2):c.1322T>C (p.Ile441Thr) http://identifiers.org/clinvar/203842 ^@ NM_002454.2(MTRR):c.1091_1093delGTT (p.Cys364del) http://identifiers.org/clinvar/203840 ^@ NM_002454.2(MTRR):c.1653G>A (p.Pro551=) http://identifiers.org/clinvar/203841 ^@ NM_002454.2(MTRR):c.1982A>G (p.His661Arg) http://identifiers.org/clinvar/203606 ^@ NM_000045.3(ARG1):c.272dupG (p.Arg92Lysfs) http://identifiers.org/clinvar/203851 ^@ NM_000255.3(MUT):c.1885A>G (p.Arg629Gly) http://identifiers.org/clinvar/203850 ^@ NM_000255.3(MUT):c.1663G>A (p.Ala555Thr) http://identifiers.org/clinvar/203860 ^@ NM_000255.3(MUT):c.1630_1631delGGinsTA (p.Gly544Ter) http://identifiers.org/clinvar/203847 ^@ NM_000255.3(MUT):c.1108A>C (p.Thr370Pro) http://identifiers.org/clinvar/203846 ^@ NM_000255.3(MUT):c.1106G>A (p.Arg369His) http://identifiers.org/clinvar/203845 ^@ NM_000255.3(MUT):c.1084-10A>G http://identifiers.org/clinvar/203859 ^@ NM_000255.3(MUT):c.890C>T (p.Thr297Ile) http://identifiers.org/clinvar/203858 ^@ NM_000255.3(MUT):c.842T>C (p.Leu281Ser) http://identifiers.org/clinvar/203862 ^@ NM_000255.3(MUT):c.754C>T (p.His252Tyr) http://identifiers.org/clinvar/203843 ^@ NM_000255.3(MUT):c.711A>G (p.Pro237=) http://identifiers.org/clinvar/203855 ^@ NM_000255.3(MUT):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/203854 ^@ NM_000255.3(MUT):c.572C>A (p.Ala191Glu) http://identifiers.org/clinvar/203861 ^@ NM_000255.3(MUT):c.372_374dupGGA (p.Lys124_Asp125insGlu) http://identifiers.org/clinvar/203853 ^@ NM_000255.3(MUT):c.329A>G (p.Tyr110Cys) http://identifiers.org/clinvar/203793 ^@ NM_018368.3(LMBRD1):c.378G>C (p.Lys126Asn) http://identifiers.org/clinvar/203639 ^@ NM_183050.3(BCKDHB):c.1022T>A (p.Ile341Asn) http://identifiers.org/clinvar/203683 ^@ NM_000108.4(DLD):c.82T>C (p.Ser28Pro) http://identifiers.org/clinvar/203672 ^@ NM_000108.4(DLD):c.100A>G (p.Thr34Ala) http://identifiers.org/clinvar/203674 ^@ NM_000108.4(DLD):c.182C>T (p.Ala61Val) http://identifiers.org/clinvar/203675 ^@ NM_000108.4(DLD):c.185A>G (p.Gln62Arg) http://identifiers.org/clinvar/203677 ^@ NM_000108.4(DLD):c.306T>A (p.His102Gln) http://identifiers.org/clinvar/203670 ^@ NM_000108.4(DLD):c.675T>C (p.Gly225=) http://identifiers.org/clinvar/203679 ^@ NM_000108.4(DLD):c.722C>T (p.Ala241Val) http://identifiers.org/clinvar/203680 ^@ NM_000108.4(DLD):c.763A>C (p.Met255Leu) http://identifiers.org/clinvar/203681 ^@ NM_000108.4(DLD):c.788G>A (p.Arg263His) http://identifiers.org/clinvar/203682 ^@ NM_000108.4(DLD):c.826A>T (p.Thr276Ser) http://identifiers.org/clinvar/203671 ^@ NM_000108.4(DLD):c.869A>G (p.Asp290Gly) http://identifiers.org/clinvar/203684 ^@ NM_000108.4(DLD):c.1291A>G (p.Thr431Ala) http://identifiers.org/clinvar/203685 ^@ NM_000108.4(DLD):c.1382G>A (p.Gly461Glu) http://identifiers.org/clinvar/203673 ^@ NM_000108.4(DLD):c.*18delA http://identifiers.org/clinvar/203624 ^@ NM_001024943.1(ASL):c.291+1G>T http://identifiers.org/clinvar/203625 ^@ NM_000048.3(ASL):c.392C>T (p.Thr131Met) http://identifiers.org/clinvar/203628 ^@ NM_000048.3(ASL):c.533_557dup25 (p.Leu187Glyfs) http://identifiers.org/clinvar/203615 ^@ NM_000048.3(ASL):c.649C>T (p.Arg217Ter) http://identifiers.org/clinvar/203629 ^@ NM_000048.3(ASL):c.1045_1057delGTCATCTCTACGC (p.Val349Cysfs) http://identifiers.org/clinvar/203938 ^@ NM_014251.2(SLC25A13):c.1910T>C (p.Val637Ala) http://identifiers.org/clinvar/203983 ^@ NM_017866.5(TMEM70):c.25C>T (p.Pro9Ser) http://identifiers.org/clinvar/203984 ^@ NM_017866.5(TMEM70):c.116C>G (p.Ala39Gly) http://identifiers.org/clinvar/203989 ^@ NM_017866.5(TMEM70):c.117_118dupGT (p.Ser40Cysfs) http://identifiers.org/clinvar/203985 ^@ NM_017866.5(TMEM70):c.455C>T (p.Thr152Met) http://identifiers.org/clinvar/203986 ^@ NM_017866.5(TMEM70):c.555T>G (p.Asn185Lys) http://identifiers.org/clinvar/203987 ^@ NM_017866.5(TMEM70):c.578C>T (p.Thr193Ile) http://identifiers.org/clinvar/203981 ^@ NM_017866.5(TMEM70):c.730A>G (p.Ile244Val) http://identifiers.org/clinvar/203982 ^@ NM_017866.5(TMEM70):c.764G>A (p.Arg255Gln) http://identifiers.org/clinvar/203632 ^@ NM_000050.4(ASS1):c.-4C>T http://identifiers.org/clinvar/203636 ^@ NM_000050.4(ASS1):c.584T>C (p.Leu195Pro) http://identifiers.org/clinvar/203630 ^@ NM_000050.4(ASS1):c.675C>T (p.Ile225=) http://identifiers.org/clinvar/203631 ^@ NM_000050.4(ASS1):c.1088G>A (p.Arg363Gln) http://identifiers.org/clinvar/203903 ^@ NM_000920.3(PC):c.3258C>G (p.Ser1086=) http://identifiers.org/clinvar/203917 ^@ NM_000920.3(PC):c.3107G>A (p.Arg1036His) http://identifiers.org/clinvar/203915 ^@ NM_000920.3(PC):c.2804C>T (p.Ala935Val) http://identifiers.org/clinvar/203924 ^@ NM_000920.3(PC):c.2723C>T (p.Thr908Met) http://identifiers.org/clinvar/203902 ^@ NM_000920.3(PC):c.2682T>C (p.Tyr894=) http://identifiers.org/clinvar/203901 ^@ NM_000920.3(PC):c.2657A>G (p.Lys886Arg) http://identifiers.org/clinvar/203900 ^@ NM_000920.3(PC):c.2577G>A (p.Ser859=) http://identifiers.org/clinvar/203899 ^@ NM_000920.3(PC):c.2195G>A (p.Arg732Gln) http://identifiers.org/clinvar/203897 ^@ NM_000920.3(PC):c.1767G>T (p.Lys589Asn) http://identifiers.org/clinvar/203912 ^@ NM_000920.3(PC):c.1717G>A (p.Ala573Thr) http://identifiers.org/clinvar/203911 ^@ NM_000920.3(PC):c.1640G>A (p.Arg547Gln) http://identifiers.org/clinvar/203896 ^@ NM_000920.3(PC):c.1608G>A (p.Pro536=) http://identifiers.org/clinvar/203895 ^@ NM_000920.3(PC):c.1551C>T (p.Pro517=) http://identifiers.org/clinvar/203894 ^@ NM_000920.3(PC):c.1519G>A (p.Val507Ile) http://identifiers.org/clinvar/203893 ^@ NM_000920.3(PC):c.1513+13delA http://identifiers.org/clinvar/203909 ^@ NM_000920.3(PC):c.1344G>A (p.Ala448=) http://identifiers.org/clinvar/203923 ^@ NM_000920.3(PC):c.1292C>G (p.Ala431Gly) http://identifiers.org/clinvar/203922 ^@ NM_000920.3(PC):c.797C>A (p.Ser266Tyr) http://identifiers.org/clinvar/203921 ^@ NM_000920.3(PC):c.788G>A (p.Arg263Gln) http://identifiers.org/clinvar/203916 ^@ NM_000920.3(PC):c.786G>T (p.Glu262Asp) http://identifiers.org/clinvar/203920 ^@ NM_000920.3(PC):c.616G>T (p.Val206Leu) http://identifiers.org/clinvar/203908 ^@ NM_000920.3(PC):c.571A>G (p.Ile191Val) http://identifiers.org/clinvar/203919 ^@ NM_000920.3(PC):c.496G>A (p.Val166Ile) http://identifiers.org/clinvar/203918 ^@ NM_000920.3(PC):c.321+5G>A http://identifiers.org/clinvar/203907 ^@ NM_000920.3(PC):c.89G>A (p.Arg30Gln) http://identifiers.org/clinvar/203906 ^@ NM_000920.3(PC):c.85G>A (p.Val29Ile) http://identifiers.org/clinvar/203905 ^@ NM_000920.3(PC):c.50G>A (p.Arg17His) http://identifiers.org/clinvar/203904 ^@ NM_000920.3(PC):c.14G>A (p.Arg5Gln) http://identifiers.org/clinvar/203654 ^@ NM_001876.3(CPT1A):c.2004T>C (p.Ala668=) http://identifiers.org/clinvar/203653 ^@ NM_001876.3(CPT1A):c.1941C>G (p.Ala647=) http://identifiers.org/clinvar/203655 ^@ NM_001876.3(CPT1A):c.863G>A (p.Arg288Gln) http://identifiers.org/clinvar/203652 ^@ NM_001876.3(CPT1A):c.240G>A (p.Ser80=) http://identifiers.org/clinvar/203874 ^@ NM_000277.1(PAH):c.734_735delTGinsCA (p.Val245Ala) http://identifiers.org/clinvar/203873 ^@ NM_000277.1(PAH):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/203820 ^@ NM_052845.3(MMAB):c.700C>T (p.Gln234Ter) http://identifiers.org/clinvar/203822 ^@ NM_052845.3(MMAB):c.563_577dupTGTGCCGCCGGGCCG (p.Ala192_Glu193insValCysArgArgAla) http://identifiers.org/clinvar/203819 ^@ NM_052845.3(MMAB):c.569G>A (p.Arg190His) http://identifiers.org/clinvar/203817 ^@ NM_052845.3(MMAB):c.185C>T (p.Thr62Met) http://identifiers.org/clinvar/203553 ^@ NM_000017.3(ACADS):c.481A>G (p.Ser161Gly) http://identifiers.org/clinvar/203555 ^@ NM_000017.3(ACADS):c.812G>T (p.Gly271Val) http://identifiers.org/clinvar/203556 ^@ NM_000017.3(ACADS):c.815G>A (p.Arg272His) http://identifiers.org/clinvar/203557 ^@ NM_000017.3(ACADS):c.988C>T (p.Arg330Cys) http://identifiers.org/clinvar/203569 ^@ NM_000017.3(ACADS):c.988_990delCGCinsTGT (p.Arg330Cys) http://identifiers.org/clinvar/203560 ^@ NM_000017.3(ACADS):c.1095G>T (p.Gln365His) http://identifiers.org/clinvar/203561 ^@ NM_000017.3(ACADS):c.1105G>A (p.Gly369Ser) http://identifiers.org/clinvar/203562 ^@ NM_000017.3(ACADS):c.1108A>G (p.Met370Val) http://identifiers.org/clinvar/203563 ^@ NM_000017.3(ACADS):c.1112G>T (p.Gly371Val) http://identifiers.org/clinvar/203566 ^@ NM_000017.3(ACADS):c.1156C>T (p.Arg386Cys) http://identifiers.org/clinvar/203876 ^@ NM_000282.3(PCCA):c.145C>T (p.Arg49Cys) http://identifiers.org/clinvar/203879 ^@ NM_000282.3(PCCA):c.328G>C (p.Val110Leu) http://identifiers.org/clinvar/203880 ^@ NM_000282.3(PCCA):c.425G>A (p.Gly142Asp) http://identifiers.org/clinvar/203875 ^@ NM_000282.3(PCCA):c.437T>C (p.Leu146Pro) http://identifiers.org/clinvar/203939 ^@ NM_014252.3(SLC25A15):c.182G>A (p.Arg61His) http://identifiers.org/clinvar/203940 ^@ NM_014252.3(SLC25A15):c.506T>C (p.Phe169Ser) http://identifiers.org/clinvar/203962 ^@ NM_003850.2(SUCLA2):c.1220G>T (p.Arg407Leu) http://identifiers.org/clinvar/203959 ^@ NM_003850.2(SUCLA2):c.1076A>C (p.Glu359Ala) http://identifiers.org/clinvar/203958 ^@ NM_003850.2(SUCLA2):c.955G>C (p.Gly319Arg) http://identifiers.org/clinvar/203957 ^@ NM_003850.2(SUCLA2):c.937G>A (p.Gly313Ser) http://identifiers.org/clinvar/203947 ^@ NM_003850.2(SUCLA2):c.916A>C (p.Lys306Gln) http://identifiers.org/clinvar/203946 ^@ NM_003850.2(SUCLA2):c.811A>G (p.Met271Val) http://identifiers.org/clinvar/203963 ^@ NM_003850.2(SUCLA2):c.688C>T (p.Pro230Ser) http://identifiers.org/clinvar/203961 ^@ NM_003850.2(SUCLA2):c.672_673delGAinsAG (p.Lys225Glu) http://identifiers.org/clinvar/203956 ^@ NM_003850.2(SUCLA2):c.617A>G (p.Glu206Gly) http://identifiers.org/clinvar/203955 ^@ NM_003850.2(SUCLA2):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/203953 ^@ NM_003850.2(SUCLA2):c.387A>C (p.Lys129Asn) http://identifiers.org/clinvar/203945 ^@ NM_003850.2(SUCLA2):c.272-13G>C http://identifiers.org/clinvar/203949 ^@ NM_003850.2(SUCLA2):c.268T>A (p.Leu90Ile) http://identifiers.org/clinvar/203960 ^@ NM_003850.2(SUCLA2):c.236C>T (p.Ser79Leu) http://identifiers.org/clinvar/203948 ^@ NM_003850.2(SUCLA2):c.219A>C (p.Lys73Asn) http://identifiers.org/clinvar/203952 ^@ NM_003850.2(SUCLA2):c.80C>T (p.Ala27Val) http://identifiers.org/clinvar/203951 ^@ NM_003850.2(SUCLA2):c.64C>T (p.Arg22Trp) http://identifiers.org/clinvar/203944 ^@ NM_001126106.2(SLC7A7):c.475C>T (p.Arg159Cys) http://identifiers.org/clinvar/203943 ^@ NM_001126106.2(SLC7A7):c.96G>A (p.Lys32=) http://identifiers.org/clinvar/203791 ^@ NM_002225.3(IVD):c.476_478dupGTG (p.Gly159_Glu160insGly) http://identifiers.org/clinvar/203792 ^@ NM_002225.3(IVD):c.899C>T (p.Ala300Val) http://identifiers.org/clinvar/203782 ^@ NM_002225.3(IVD):c.*14C>T http://identifiers.org/clinvar/203692 ^@ NM_000126.3(ETFA):c.826A>C (p.Ile276Leu) http://identifiers.org/clinvar/203688 ^@ NM_000126.3(ETFA):c.580G>A (p.Val194Met) http://identifiers.org/clinvar/203687 ^@ NM_000126.3(ETFA):c.533C>G (p.Thr178Arg) http://identifiers.org/clinvar/203690 ^@ NM_000126.3(ETFA):c.215G>A (p.Gly72Asp) http://identifiers.org/clinvar/203686 ^@ NM_000126.3(ETFA):c.186+7A>G http://identifiers.org/clinvar/203813 ^@ NM_012213.2(MLYCD):c.475delG (p.Ala159Profs) http://identifiers.org/clinvar/203598 ^@ NM_174917.4(ACSF3):c.-14_-13insCCAGGAGGCTCCCGGGAGC http://identifiers.org/clinvar/203603 ^@ NM_174917.4(ACSF3):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/203604 ^@ NM_174917.4(ACSF3):c.28C>T (p.Arg10Trp) http://identifiers.org/clinvar/203600 ^@ NM_174917.4(ACSF3):c.584A>G (p.Lys195Arg) http://identifiers.org/clinvar/203607 ^@ NM_174917.4(ACSF3):c.589G>A (p.Ala197Thr) http://identifiers.org/clinvar/203608 ^@ NM_174917.4(ACSF3):c.673G>A (p.Gly225Arg) http://identifiers.org/clinvar/203609 ^@ NM_174917.4(ACSF3):c.706G>A (p.Asp236Asn) http://identifiers.org/clinvar/203601 ^@ NM_174917.4(ACSF3):c.1406G>A (p.Arg469Gln) http://identifiers.org/clinvar/203602 ^@ NM_174917.4(ACSF3):c.1556T>G (p.Val519Gly) http://identifiers.org/clinvar/203610 ^@ NM_174917.4(ACSF3):c.1718delT (p.Phe573Serfs) http://identifiers.org/clinvar/203864 ^@ NM_153006.2(NAGS):c.182A>G (p.Glu61Gly) http://identifiers.org/clinvar/203863 ^@ NM_153006.2(NAGS):c.1086T>C (p.Phe362=) http://identifiers.org/clinvar/203588 ^@ NM_000018.3(ACADVL):c.210dupT (p.Lys71Terfs) http://identifiers.org/clinvar/203572 ^@ NM_000018.3(ACADVL):c.482C>T (p.Ala161Val) http://identifiers.org/clinvar/203597 ^@ NM_000018.3(ACADVL):c.507_527del21 (p.Met169_Gly175del) http://identifiers.org/clinvar/203595 ^@ NM_000018.3(ACADVL):c.553G>A (p.Gly185Ser) http://identifiers.org/clinvar/203574 ^@ NM_000018.3(ACADVL):c.818G>C (p.Gly273Ala) http://identifiers.org/clinvar/203589 ^@ NM_000018.3(ACADVL):c.829_831delGAG (p.Glu277del) http://identifiers.org/clinvar/203575 ^@ NM_000018.3(ACADVL):c.881G>A (p.Gly294Glu) http://identifiers.org/clinvar/203590 ^@ NM_000018.3(ACADVL):c.889_891delGAG (p.Glu297del) http://identifiers.org/clinvar/203577 ^@ NM_000018.3(ACADVL):c.947G>A (p.Arg316Gln) http://identifiers.org/clinvar/203579 ^@ NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys) http://identifiers.org/clinvar/203580 ^@ NM_000018.3(ACADVL):c.1097G>A (p.Arg366His) http://identifiers.org/clinvar/203582 ^@ NM_000018.3(ACADVL):c.1316G>A (p.Gly439Asp) http://identifiers.org/clinvar/203591 ^@ NM_000018.3(ACADVL):c.1316dupG (p.Met440Tyrfs) http://identifiers.org/clinvar/203592 ^@ NM_000018.3(ACADVL):c.1375dupC (p.Arg459Profs) http://identifiers.org/clinvar/203585 ^@ NM_000018.3(ACADVL):c.1376G>A (p.Arg459Gln) http://identifiers.org/clinvar/203586 ^@ NM_000018.3(ACADVL):c.1504C>G (p.Leu502Val) http://identifiers.org/clinvar/203587 ^@ NM_000018.3(ACADVL):c.1532G>A (p.Arg511Gln) http://identifiers.org/clinvar/203593 ^@ NM_000018.3(ACADVL):c.1806_1807delCT (p.Cys603Terfs) http://identifiers.org/clinvar/203638 ^@ NM_000709.3(BCKDHA):c.661_664delTACG (p.Tyr221Glnfs) http://identifiers.org/clinvar/203700 ^@ NM_001985.2(ETFB):c.709G>A (p.Val237Ile) http://identifiers.org/clinvar/203699 ^@ NM_001985.2(ETFB):c.521G>A (p.Arg174His) http://identifiers.org/clinvar/203698 ^@ NM_001985.2(ETFB):c.447C>T (p.Phe149=) http://identifiers.org/clinvar/203697 ^@ NM_001985.2(ETFB):c.292C>T (p.Arg98Cys) http://identifiers.org/clinvar/203696 ^@ NM_001985.2(ETFB):c.278C>T (p.Pro93Leu) http://identifiers.org/clinvar/203704 ^@ NM_001985.2(ETFB):c.236T>A (p.Leu79Gln) http://identifiers.org/clinvar/203703 ^@ NM_001985.2(ETFB):c.232G>A (p.Ala78Thr) http://identifiers.org/clinvar/203702 ^@ NM_001985.2(ETFB):c.227G>A (p.Arg76His) http://identifiers.org/clinvar/203701 ^@ NM_001985.2(ETFB):c.160G>A (p.Glu54Lys) http://identifiers.org/clinvar/203695 ^@ NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs) http://identifiers.org/clinvar/203693 ^@ NM_001014763.1(ETFB):c.13_18dupCTGTGG (p.Trp6_Val7insLeuTrp) http://identifiers.org/clinvar/203643 ^@ NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) http://identifiers.org/clinvar/203756 ^@ NM_000411.6(HLCS):c.*7_*9delGCG http://identifiers.org/clinvar/203771 ^@ NM_000411.6(HLCS):c.2059G>A (p.Val687Ile) http://identifiers.org/clinvar/203755 ^@ NM_000411.6(HLCS):c.1921G>A (p.Val641Met) http://identifiers.org/clinvar/203775 ^@ NM_000411.6(HLCS):c.1891delT (p.Leu631Terfs) http://identifiers.org/clinvar/203754 ^@ NM_000411.6(HLCS):c.1672G>A (p.Glu558Lys) http://identifiers.org/clinvar/203769 ^@ NM_000411.6(HLCS):c.1180-13_1180-10delCTTT http://identifiers.org/clinvar/203767 ^@ NM_000411.6(HLCS):c.1053C>T (p.Asn351=) http://identifiers.org/clinvar/203766 ^@ NM_000411.6(HLCS):c.901G>A (p.Gly301Ser) http://identifiers.org/clinvar/203765 ^@ NM_000411.6(HLCS):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/203764 ^@ NM_000411.6(HLCS):c.889C>T (p.Arg297Trp) http://identifiers.org/clinvar/203763 ^@ NM_000411.6(HLCS):c.850G>A (p.Val284Ile) http://identifiers.org/clinvar/203777 ^@ NM_000411.6(HLCS):c.782delG (p.Gly261Valfs) http://identifiers.org/clinvar/203762 ^@ NM_000411.6(HLCS):c.632C>T (p.Thr211Met) http://identifiers.org/clinvar/203761 ^@ NM_000411.6(HLCS):c.561C>T (p.Ala187=) http://identifiers.org/clinvar/203760 ^@ NM_000411.6(HLCS):c.473C>T (p.Thr158Met) http://identifiers.org/clinvar/203774 ^@ NM_000411.6(HLCS):c.408C>G (p.Ser136Arg) http://identifiers.org/clinvar/203759 ^@ NM_000411.6(HLCS):c.160G>C (p.Glu54Gln) http://identifiers.org/clinvar/203758 ^@ NM_000411.6(HLCS):c.53-13A>G http://identifiers.org/clinvar/203757 ^@ NM_000411.6(HLCS):c.-254C>T http://identifiers.org/clinvar/203868 ^@ NM_000531.5(OTC):c.-4G>A http://identifiers.org/clinvar/203869 ^@ NM_000531.5(OTC):c.217-2dupA http://identifiers.org/clinvar/203870 ^@ NM_000531.5(OTC):c.562_563delGG (p.Gly188Serfs) http://identifiers.org/clinvar/203866 ^@ NM_000531.5(OTC):c.615G>C (p.Met205Ile) http://identifiers.org/clinvar/203867 ^@ NM_000531.5(OTC):c.919A>G (p.Lys307Glu) http://identifiers.org/clinvar/203990 ^@ NM_015340.3(LARS2):c.899C>T (p.Thr300Met) http://identifiers.org/clinvar/203991 ^@ NM_015340.3(LARS2):c.1912G>A (p.Glu638Lys) http://identifiers.org/clinvar/203994 ^@ NM_000228.2(LAMB3):c.133T>G (p.Ser45Ala) http://identifiers.org/clinvar/203993 ^@ NM_001105538.1(MYBBP1A):c.139C>T (p.Gln47Ter) http://identifiers.org/clinvar/203995 ^@ NM_000135.2(FANCA):c.2762A>T (p.Lys921Ile) http://identifiers.org/clinvar/203996 ^@ NM_000135.2(FANCA):c.2648T>A (p.Leu883His) http://identifiers.org/clinvar/203997 ^@ NM_000135.2(FANCA):c.2628C>A (p.Phe876Leu) http://identifiers.org/clinvar/203999 ^@ NM_015895.4(GMNN):c.16A>T (p.Lys6Ter) http://identifiers.org/clinvar/204000 ^@ NM_015895.4(GMNN):c.35_38delTCAA (p.Ile12Lysfs) http://identifiers.org/clinvar/204001 ^@ NM_015895.4(GMNN):c.50A>G (p.Lys17Arg) http://identifiers.org/clinvar/204004 ^@ NM_001396.3(DYRK1A):c.312C>G (p.Tyr104Ter) http://identifiers.org/clinvar/204008 ^@ NM_001396.4(DYRK1A):c.452dupA (p.Asn151Lysfs) http://identifiers.org/clinvar/204006 ^@ NM_001396.3(DYRK1A):c.461delA (p.Lys154Serfs) http://identifiers.org/clinvar/204009 ^@ NM_001396.3(DYRK1A):c.563A>T (p.Lys188Ile) http://identifiers.org/clinvar/204010 ^@ NM_001396.3(DYRK1A):c.734T>G (p.Leu245Arg) http://identifiers.org/clinvar/204011 ^@ NM_001396.3(DYRK1A):c.883C>T (p.Leu295Phe) http://identifiers.org/clinvar/204007 ^@ NM_001396.3(DYRK1A):c.1101_1104delAGAT (p.Asp368Argfs) http://identifiers.org/clinvar/204005 ^@ NM_001396.3(DYRK1A):c.1399C>T (p.Arg467Ter) http://identifiers.org/clinvar/204002 ^@ GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106) http://identifiers.org/clinvar/204003 ^@ GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) http://identifiers.org/clinvar/204216 ^@ NG_008005.1:g.(7706_9235)_(15375_?)del http://identifiers.org/clinvar/204213 ^@ NG_008005.1:g.(14407_14970)_(15375_?)del http://identifiers.org/clinvar/204217 ^@ NC_000002.12:g.(?_239048168)_(240879119_?)del http://identifiers.org/clinvar/204214 ^@ NG_008005.1:g.(?_5001)_(9305_10233)del http://identifiers.org/clinvar/204215 ^@ NG_008005.1:g.(?_5001)_(11460_12190)del http://identifiers.org/clinvar/204065 ^@ NM_000030.2(AGXT):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/204172 ^@ NM_000030.2(AGXT):c.2_3delTGinsAT (p.Met1Asn) http://identifiers.org/clinvar/204066 ^@ NM_000030.2(AGXT):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/204067 ^@ NM_000030.2(AGXT):c.22G>C (p.Val8Leu) http://identifiers.org/clinvar/204016 ^@ NM_000030.2(AGXT):c.26C>A (p.Thr9Asn) http://identifiers.org/clinvar/204017 ^@ NM_000030.2(AGXT):c.27C>A (p.Thr9=) http://identifiers.org/clinvar/204068 ^@ NM_000030.2(AGXT):c.28C>T (p.Pro10Ser) http://identifiers.org/clinvar/204018 ^@ NM_000030.2(AGXT):c.32C>A (p.Pro11His) http://identifiers.org/clinvar/204069 ^@ NM_000030.2(AGXT):c.32C>G (p.Pro11Arg) http://identifiers.org/clinvar/204173 ^@ NM_000030.2(AGXT):c.32_33delCC (p.Pro11Glnfs) http://identifiers.org/clinvar/204019 ^@ NM_000030.2(AGXT):c.35A>G (p.Lys12Arg) http://identifiers.org/clinvar/204020 ^@ NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) http://identifiers.org/clinvar/204070 ^@ NM_000030.2(AGXT):c.74T>G (p.Leu25Arg) http://identifiers.org/clinvar/204071 ^@ NM_000030.2(AGXT):c.77T>C (p.Leu26Pro) http://identifiers.org/clinvar/204174 ^@ NM_000030.2(AGXT):c.83delC (p.Pro28Leufs) http://identifiers.org/clinvar/204072 ^@ NM_000030.2(AGXT):c.107G>A (p.Arg36His) http://identifiers.org/clinvar/204175 ^@ NM_000030.2(AGXT):c.116_117dupCA (p.Ala40Glnfs) http://identifiers.org/clinvar/204073 ^@ NM_000030.2(AGXT):c.122G>A (p.Gly41Glu) http://identifiers.org/clinvar/204074 ^@ NM_000030.2(AGXT):c.125G>A (p.Gly42Glu) http://identifiers.org/clinvar/204176 ^@ NM_000030.2(AGXT):c.126delG (p.Leu43Cysfs) http://identifiers.org/clinvar/204075 ^@ NM_000030.2(AGXT):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/204076 ^@ NM_000030.2(AGXT):c.139G>A (p.Gly47Arg) http://identifiers.org/clinvar/204021 ^@ NM_000030.2(AGXT):c.165+16A>G http://identifiers.org/clinvar/204024 ^@ NM_000030.2(AGXT):c.165+19_165+92dup74 http://identifiers.org/clinvar/204026 ^@ NM_000030.2(AGXT):c.166-100A>C http://identifiers.org/clinvar/204025 ^@ NM_000030.2(AGXT):c.166-96T>A http://identifiers.org/clinvar/204022 ^@ NM_000030.2(AGXT):c.165+83C>T http://identifiers.org/clinvar/204023 ^@ NM_000030.2(AGXT):c.165+84C>T http://identifiers.org/clinvar/204027 ^@ NM_000030.2(AGXT):c.166-54C>T http://identifiers.org/clinvar/204028 ^@ NM_000030.2(AGXT):c.166-47T>C http://identifiers.org/clinvar/204029 ^@ NM_000030.2(AGXT):c.166-14C>T http://identifiers.org/clinvar/204163 ^@ NM_000030.2(AGXT):c.166-1G>A http://identifiers.org/clinvar/204077 ^@ NM_000030.2(AGXT):c.167T>A (p.Ile56Asn) http://identifiers.org/clinvar/204078 ^@ NM_000030.2(AGXT):c.175G>A (p.Glu59Lys) http://identifiers.org/clinvar/204079 ^@ NM_000030.2(AGXT):c.187G>C (p.Gly63Arg) http://identifiers.org/clinvar/204080 ^@ NM_000030.2(AGXT):c.205C>T (p.Gln69Ter) http://identifiers.org/clinvar/204081 ^@ NM_000030.2(AGXT):c.209C>A (p.Thr70Asn) http://identifiers.org/clinvar/204177 ^@ NM_000030.2(AGXT):c.215dupA (p.Asn72Lysfs) http://identifiers.org/clinvar/204178 ^@ NM_000030.2(AGXT):c.221_227dupTCACACT (p.Val77Hisfs) http://identifiers.org/clinvar/204082 ^@ NM_000030.2(AGXT):c.242C>A (p.Ser81Ter) http://identifiers.org/clinvar/204083 ^@ NM_000030.2(AGXT):c.242C>T (p.Ser81Leu) http://identifiers.org/clinvar/204084 ^@ NM_000030.2(AGXT):c.244G>C (p.Gly82Arg) http://identifiers.org/clinvar/204085 ^@ NM_000030.2(AGXT):c.248A>G (p.His83Arg) http://identifiers.org/clinvar/204086 ^@ NM_000030.2(AGXT):c.254C>A (p.Ala85Asp) http://identifiers.org/clinvar/204030 ^@ NM_000030.2(AGXT):c.264C>T (p.Ala88=) http://identifiers.org/clinvar/204179 ^@ NM_000030.2(AGXT):c.276delT (p.Asn92Lysfs) http://identifiers.org/clinvar/204087 ^@ NM_000030.2(AGXT):c.283G>A (p.Glu95Lys) http://identifiers.org/clinvar/204180 ^@ NM_000030.2(AGXT):c.283_285dupGAG (p.Glu95_Pro96insGlu) http://identifiers.org/clinvar/204031 ^@ NM_000030.2(AGXT):c.296C>A (p.Ser99Tyr) http://identifiers.org/clinvar/242577 ^@ NM_000030.2(AGXT):c.299_307dupTCCTGGTTG (p.Val102_Gly103insValLeuVal) http://identifiers.org/clinvar/242576 ^@ NM_000030.2(AGXT):c.308G>A (p.Gly103Glu) http://identifiers.org/clinvar/204088 ^@ NM_000030.2(AGXT):c.323G>A (p.Trp108Ter) http://identifiers.org/clinvar/204089 ^@ NM_000030.2(AGXT):c.324G>T (p.Trp108Cys) http://identifiers.org/clinvar/204090 ^@ NM_000030.2(AGXT):c.326G>T (p.Gly109Val) http://identifiers.org/clinvar/204182 ^@ NM_000030.2(AGXT):c.327delG (p.Gln110Serfs) http://identifiers.org/clinvar/204091 ^@ NM_000030.2(AGXT):c.331C>T (p.Arg111Ter) http://identifiers.org/clinvar/204092 ^@ NM_000030.2(AGXT):c.332G>A (p.Arg111Gln) http://identifiers.org/clinvar/204093 ^@ NM_000030.2(AGXT):c.335C>A (p.Ala112Asp) http://identifiers.org/clinvar/204094 ^@ NM_000030.2(AGXT):c.349G>T (p.Glu117Ter) http://identifiers.org/clinvar/204095 ^@ NM_000030.2(AGXT):c.352C>T (p.Arg118Cys) http://identifiers.org/clinvar/204096 ^@ NM_000030.2(AGXT):c.353G>A (p.Arg118His) http://identifiers.org/clinvar/204151 ^@ NM_000030.2(AGXT):c.358+1G>T http://identifiers.org/clinvar/204152 ^@ NM_000030.2(AGXT):c.358+2T>G http://identifiers.org/clinvar/204032 ^@ NM_000030.2(AGXT):c.358+13C>T http://identifiers.org/clinvar/204033 ^@ NM_000030.2(AGXT):c.358+56_358+64del9 http://identifiers.org/clinvar/204183 ^@ NM_000030.2(AGXT):c.359-4_379del http://identifiers.org/clinvar/204097 ^@ NM_000030.2(AGXT):c.364C>T (p.Arg122Ter) http://identifiers.org/clinvar/204098 ^@ NM_000030.2(AGXT):c.371A>C (p.His124Pro) http://identifiers.org/clinvar/204034 ^@ NM_000030.2(AGXT):c.385G>C (p.Asp129His) http://identifiers.org/clinvar/204099 ^@ NM_000030.2(AGXT):c.409C>T (p.Gln137Ter) http://identifiers.org/clinvar/204184 ^@ NM_000030.2(AGXT):c.416_418delTGG (p.Val139del) http://identifiers.org/clinvar/204100 ^@ NM_000030.2(AGXT):c.423G>T (p.Glu141Asp) http://identifiers.org/clinvar/204035 ^@ NM_000030.2(AGXT):c.423+29C>T http://identifiers.org/clinvar/204036 ^@ NM_000030.2(AGXT):c.423+36A>C http://identifiers.org/clinvar/204037 ^@ NM_000030.2(AGXT):c.423+45T>G http://identifiers.org/clinvar/204039 ^@ NM_000030.2(AGXT):c.424-16G>A http://identifiers.org/clinvar/204038 ^@ NM_000030.2(AGXT):c.424-12dupC http://identifiers.org/clinvar/204164 ^@ NM_000030.2(AGXT):c.424-2A>G (p.Gly_142Gln145del) http://identifiers.org/clinvar/204186 ^@ NM_000030.2(AGXT):c.445delG (p.Val149Cysfs) http://identifiers.org/clinvar/204185 ^@ NM_000030.2(AGXT):c.447_454delGCTGCTGT (p.Leu151Asnfs) http://identifiers.org/clinvar/204101 ^@ NM_000030.2(AGXT):c.449T>C (p.Leu150Pro) http://identifiers.org/clinvar/204102 ^@ NM_000030.2(AGXT):c.457T>G (p.Leu153Val) http://identifiers.org/clinvar/204187 ^@ NM_000030.2(AGXT):c.460delA (p.Thr154Profs) http://identifiers.org/clinvar/204104 ^@ NM_000030.2(AGXT):c.473C>A (p.Ser158Ter) http://identifiers.org/clinvar/204103 ^@ NM_000030.2(AGXT):c.473C>T (p.Ser158Leu) http://identifiers.org/clinvar/204105 ^@ NM_000030.2(AGXT):c.481G>A (p.Gly161Ser) http://identifiers.org/clinvar/204106 ^@ NM_000030.2(AGXT):c.481G>C (p.Gly161Arg) http://identifiers.org/clinvar/204040 ^@ NM_000030.2(AGXT):c.489G>A (p.Leu163=) http://identifiers.org/clinvar/204107 ^@ NM_000030.2(AGXT):c.497T>C (p.Leu166Pro) http://identifiers.org/clinvar/204108 ^@ NM_000030.2(AGXT):c.518G>A (p.Cys173Tyr) http://identifiers.org/clinvar/204109 ^@ NM_000030.2(AGXT):c.519C>A (p.Cys173Ter) http://identifiers.org/clinvar/204188 ^@ NM_000030.2(AGXT):c.519_520delCCinsGA (p.Cys173_His174delinsTrpAsn) http://identifiers.org/clinvar/204041 ^@ NM_000030.2(AGXT):c.524+91C>T http://identifiers.org/clinvar/204165 ^@ NM_000030.2(AGXT):c.525-1G>A http://identifiers.org/clinvar/204110 ^@ NM_000030.2(AGXT):c.533G>A (p.Cys178Tyr) http://identifiers.org/clinvar/204111 ^@ NM_000030.2(AGXT):c.547G>A (p.Asp183Asn) http://identifiers.org/clinvar/204189 ^@ NM_000030.2(AGXT):c.557_562delCATCCCinsATCGGT (p.Ala186_Ser187delinsAspArg) http://identifiers.org/clinvar/204190 ^@ NM_000030.2(AGXT):c.570delG (p.Thr191Profs) http://identifiers.org/clinvar/204191 ^@ NM_000030.2(AGXT):c.577delC (p.Leu193Phefs) http://identifiers.org/clinvar/204192 ^@ NM_000030.2(AGXT):c.577dupC (p.Leu193Profs) http://identifiers.org/clinvar/204112 ^@ NM_000030.2(AGXT):c.583A>C (p.Met195Leu) http://identifiers.org/clinvar/204113 ^@ NM_000030.2(AGXT):c.584T>G (p.Met195Arg) http://identifiers.org/clinvar/204114 ^@ NM_000030.2(AGXT):c.595G>A (p.Gly199Ser) http://identifiers.org/clinvar/204166 ^@ NM_000030.2(AGXT):c.596-2A>G http://identifiers.org/clinvar/204115 ^@ NM_000030.2(AGXT):c.603C>A (p.Asp201Glu) http://identifiers.org/clinvar/204116 ^@ NM_000030.2(AGXT):c.605T>A (p.Ile202Asn) http://identifiers.org/clinvar/204117 ^@ NM_000030.2(AGXT):c.612C>A (p.Tyr204Ter) http://identifiers.org/clinvar/204119 ^@ NM_000030.2(AGXT):c.614C>A (p.Ser205Ter) http://identifiers.org/clinvar/204118 ^@ NM_000030.2(AGXT):c.614C>T (p.Ser205Leu) http://identifiers.org/clinvar/204120 ^@ NM_000030.2(AGXT):c.628G>C (p.Ala210Pro) http://identifiers.org/clinvar/204193 ^@ NM_000030.2(AGXT):c.642_645delTCCA (p.Pro215Glyfs) http://identifiers.org/clinvar/204121 ^@ NM_000030.2(AGXT):c.646G>A (p.Gly216Arg) http://identifiers.org/clinvar/204122 ^@ NM_000030.2(AGXT):c.661T>C (p.Ser221Pro) http://identifiers.org/clinvar/204194 ^@ NM_000030.2(AGXT):c.661_663delTCC (p.Ser221del) http://identifiers.org/clinvar/204154 ^@ NM_000030.2(AGXT):c.680+1G>A http://identifiers.org/clinvar/204153 ^@ NM_000030.2(AGXT):c.680+1G>C http://identifiers.org/clinvar/204155 ^@ NM_000030.2(AGXT):c.680+2T>A http://identifiers.org/clinvar/204156 ^@ NM_000030.2(AGXT):c.680+5G>C http://identifiers.org/clinvar/204043 ^@ NM_000030.2(AGXT):c.680+17C>T http://identifiers.org/clinvar/204044 ^@ NM_000030.2(AGXT):c.680+75G>A http://identifiers.org/clinvar/204045 ^@ NM_000030.2(AGXT):c.680+130C>T http://identifiers.org/clinvar/204196 ^@ NG_008005.1:g.10798_11529del732insTGAGA http://identifiers.org/clinvar/204046 ^@ NM_000030.2(AGXT):c.681-94G>A http://identifiers.org/clinvar/204123 ^@ NM_000030.2(AGXT):c.698G>T (p.Arg233Leu) http://identifiers.org/clinvar/204047 ^@ NM_000030.2(AGXT):c.705G>A (p.Thr235=) http://identifiers.org/clinvar/204197 ^@ NM_000030.2(AGXT):c.725dupT (p.Asp243Glyfs) http://identifiers.org/clinvar/204124 ^@ NM_000030.2(AGXT):c.727G>C (p.Asp243His) http://identifiers.org/clinvar/204048 ^@ NM_000030.2(AGXT):c.742G>T (p.Ala248Ser) http://identifiers.org/clinvar/204198 ^@ NM_000030.2(AGXT):c.744delC (p.Asn249Thrfs) http://identifiers.org/clinvar/204199 ^@ NM_000030.2(AGXT):c.751_752delTGinsAA (p.Trp251Lys) http://identifiers.org/clinvar/204125 ^@ NM_000030.2(AGXT):c.753G>A (p.Trp251Ter) http://identifiers.org/clinvar/204126 ^@ NM_000030.2(AGXT):c.757T>C (p.Cys253Arg) http://identifiers.org/clinvar/204157 ^@ NM_000030.2(AGXT):c.776+1G>A (p.Met259fs) http://identifiers.org/clinvar/204158 ^@ NM_000030.2(AGXT):c.776+1G>C http://identifiers.org/clinvar/204050 ^@ NM_000030.2(AGXT):c.777-45C>T http://identifiers.org/clinvar/204049 ^@ NM_000030.2(AGXT):c.777-44A>G http://identifiers.org/clinvar/204167 ^@ NM_000030.2(AGXT):c.777-2A>G http://identifiers.org/clinvar/204127 ^@ NM_000030.2(AGXT):c.783T>A (p.His261Gln) http://identifiers.org/clinvar/204200 ^@ NM_000030.2(AGXT):c.798_802delCATCAinsACAATCTCAG (p.Ile267Glnfs) http://identifiers.org/clinvar/204128 ^@ NM_000030.2(AGXT):c.806T>C (p.Leu269Pro) http://identifiers.org/clinvar/204129 ^@ NM_000030.2(AGXT):c.822G>C (p.Glu274Asp) http://identifiers.org/clinvar/204130 ^@ NM_000030.2(AGXT):c.823A>C (p.Ser275Arg) http://identifiers.org/clinvar/204201 ^@ NM_000030.2(AGXT):c.823_824dupAG (p.Ser275Argfs) http://identifiers.org/clinvar/242575 ^@ NM_000030.2(AGXT):c.829_830insA (p.Ala277Aspfs) http://identifiers.org/clinvar/242574 ^@ NM_000030.2(AGXT):c.830C>A (p.Ala277Asp) http://identifiers.org/clinvar/204203 ^@ NM_000030.2(AGXT):c.834delC (p.Ile279Leufs) http://identifiers.org/clinvar/204051 ^@ NM_000030.2(AGXT):c.837T>G (p.Ile279Met) http://identifiers.org/clinvar/204052 ^@ NM_000030.2(AGXT):c.839C>T (p.Ala280Val) http://identifiers.org/clinvar/204131 ^@ NM_000030.2(AGXT):c.844C>T (p.Gln282Ter) http://identifiers.org/clinvar/204053 ^@ NM_000030.2(AGXT):c.845A>G (p.Gln282Arg) http://identifiers.org/clinvar/204132 ^@ NM_000030.2(AGXT):c.846G>C (p.Gln282His) http://identifiers.org/clinvar/204160 ^@ NM_000030.2(AGXT):c.846+1G>A http://identifiers.org/clinvar/204159 ^@ NM_000030.2(AGXT):c.846+1G>T http://identifiers.org/clinvar/204054 ^@ NM_000030.2(AGXT):c.846+52G>A http://identifiers.org/clinvar/204204 ^@ NG_008005.1:g.12906_14027del1122 http://identifiers.org/clinvar/204169 ^@ NM_000030.2(AGXT):c.847-3C>G http://identifiers.org/clinvar/204168 ^@ NM_000030.2(AGXT):c.847-1G>C http://identifiers.org/clinvar/204133 ^@ NM_000030.2(AGXT):c.851T>C (p.Leu284Pro) http://identifiers.org/clinvar/204134 ^@ NM_000030.2(AGXT):c.853G>T (p.Glu285Ter) http://identifiers.org/clinvar/204055 ^@ NM_000030.2(AGXT):c.865C>T (p.Arg289Cys) http://identifiers.org/clinvar/204056 ^@ NM_000030.2(AGXT):c.883G>A (p.Ala295Thr) http://identifiers.org/clinvar/204206 ^@ NM_000030.2(AGXT):c.886_888delGCG (p.Ala296del) http://identifiers.org/clinvar/204135 ^@ NM_000030.2(AGXT):c.891T>G (p.Tyr297Ter) http://identifiers.org/clinvar/204136 ^@ NM_000030.2(AGXT):c.893T>C (p.Leu298Pro) http://identifiers.org/clinvar/204137 ^@ NM_000030.2(AGXT):c.907C>T (p.Gln303Ter) http://identifiers.org/clinvar/204207 ^@ NM_000030.2(AGXT):c.919delC (p.Leu307Cysfs) http://identifiers.org/clinvar/204138 ^@ NM_000030.2(AGXT):c.922C>T (p.Gln308Ter) http://identifiers.org/clinvar/204161 ^@ NM_000030.2(AGXT):c.942+1G>T http://identifiers.org/clinvar/204057 ^@ NM_000030.2(AGXT):c.943-117C>T http://identifiers.org/clinvar/204171 ^@ NM_000030.2(AGXT):c.943-1G>A http://identifiers.org/clinvar/204170 ^@ NM_000030.2(AGXT):c.943-1G>T http://identifiers.org/clinvar/204139 ^@ NM_000030.2(AGXT):c.947T>C (p.Leu316Pro) http://identifiers.org/clinvar/204140 ^@ NM_000030.2(AGXT):c.956C>T (p.Pro319Leu) http://identifiers.org/clinvar/204208 ^@ NM_000030.2(AGXT):c.959_960delCA (p.Thr320Serfs) http://identifiers.org/clinvar/204209 ^@ NM_000030.2(AGXT):c.971_972delTG (p.Val324Glyfs) http://identifiers.org/clinvar/204058 ^@ NM_000030.2(AGXT):c.976G>A (p.Val326Ile) http://identifiers.org/clinvar/204210 ^@ NM_000030.2(AGXT):c.983_988delCTGGCT (p.Ala328_Tyr330delinsAsp) http://identifiers.org/clinvar/204141 ^@ NM_000030.2(AGXT):c.996G>A (p.Trp332Ter) http://identifiers.org/clinvar/204142 ^@ NM_000030.2(AGXT):c.997A>T (p.Arg333Ter) http://identifiers.org/clinvar/204143 ^@ NM_000030.2(AGXT):c.1007T>A (p.Val336Asp) http://identifiers.org/clinvar/204144 ^@ NM_000030.2(AGXT):c.1014C>G (p.Tyr338Ter) http://identifiers.org/clinvar/204145 ^@ NM_000030.2(AGXT):c.1045G>A (p.Gly349Ser) http://identifiers.org/clinvar/204162 ^@ NM_000030.2(AGXT):c.1071+1G>A http://identifiers.org/clinvar/204059 ^@ NM_000030.2(AGXT):c.1072-91G>A http://identifiers.org/clinvar/204146 ^@ NM_000030.2(AGXT):c.1076T>C (p.Leu359Pro) http://identifiers.org/clinvar/204147 ^@ NM_000030.2(AGXT):c.1079G>A (p.Arg360Gln) http://identifiers.org/clinvar/204148 ^@ NM_000030.2(AGXT):c.1102G>A (p.Ala368Thr) http://identifiers.org/clinvar/204211 ^@ NM_000030.2(AGXT):c.1110_1111delCG (p.Asn372Cysfs) http://identifiers.org/clinvar/204212 ^@ NM_000030.2(AGXT):c.1125_1126delCG (p.Val376Aspfs) http://identifiers.org/clinvar/204060 ^@ NM_000030.2(AGXT):c.1142G>A (p.Arg381Lys) http://identifiers.org/clinvar/204149 ^@ NM_000030.2(AGXT):c.1148C>A (p.Ala383Asp) http://identifiers.org/clinvar/204150 ^@ NM_000030.2(AGXT):c.1151T>C (p.Leu384Pro) http://identifiers.org/clinvar/204061 ^@ NM_000030.2(AGXT):c.1174C>T (p.Leu392=) http://identifiers.org/clinvar/204062 ^@ NM_000030.2(AGXT):c.*19G>A http://identifiers.org/clinvar/204063 ^@ NM_000030.2(AGXT):c.*41C>A http://identifiers.org/clinvar/204064 ^@ NM_000030.2(AGXT):c.*289A>C http://identifiers.org/clinvar/204195 ^@ NM_000030.2(AGXT):c.679_680+2delAAGT http://identifiers.org/clinvar/204205 ^@ NM_000030.2(AGXT):c.860_861delGCinsCG (p.Ser287Thr) http://identifiers.org/clinvar/204230 ^@ NM_012203.1(GRHPR):c.-4_-3delGCinsAT http://identifiers.org/clinvar/204245 ^@ NM_012203.1(GRHPR):c.45delA (p.Ala17Profs) http://identifiers.org/clinvar/204218 ^@ NM_012203.1(GRHPR):c.83+51delG http://identifiers.org/clinvar/242573 ^@ NM_012203.1(GRHPR):c.84-13_84-12delCC http://identifiers.org/clinvar/242572 ^@ NM_012203.1(GRHPR):c.84-8_84-5delCCCC http://identifiers.org/clinvar/204241 ^@ NM_012203.1(GRHPR):c.84-2A>G http://identifiers.org/clinvar/204231 ^@ NM_012203.1(GRHPR):c.102G>A (p.Trp34Ter) http://identifiers.org/clinvar/204232 ^@ NM_012203.1(GRHPR):c.203T>C (p.Leu68Pro) http://identifiers.org/clinvar/204219 ^@ NM_012203.1(GRHPR):c.215-11C>T http://identifiers.org/clinvar/204233 ^@ NM_012203.1(GRHPR):c.287G>T (p.Arg96Leu) http://identifiers.org/clinvar/204220 ^@ NM_012203.1(GRHPR):c.288-11C>T http://identifiers.org/clinvar/204247 ^@ NM_012203.1(GRHPR):c.288-2_288delAGT http://identifiers.org/clinvar/204249 ^@ NM_012203.1(GRHPR):c.375delG (p.Leu126Cysfs) http://identifiers.org/clinvar/204250 ^@ NM_012203.1(GRHPR):c.404+3_404+6delAAGT http://identifiers.org/clinvar/204234 ^@ NM_012203.1(GRHPR):c.478G>A (p.Gly160Arg) http://identifiers.org/clinvar/204243 ^@ NM_012203.1(GRHPR):c.493+2T>A http://identifiers.org/clinvar/204221 ^@ NM_012203.1(GRHPR):c.493+27C>T http://identifiers.org/clinvar/204222 ^@ NM_012203.1(GRHPR):c.494-68A>G http://identifiers.org/clinvar/204235 ^@ NM_012203.1(GRHPR):c.494G>A (p.Gly165Asp) http://identifiers.org/clinvar/204251 ^@ NM_012203.1(GRHPR):c.540delT (p.Leu181Cysfs) http://identifiers.org/clinvar/204223 ^@ NM_012203.1(GRHPR):c.579A= (p.Ala193=) http://identifiers.org/clinvar/204224 ^@ NM_012203.1(GRHPR):c.598+145G>T http://identifiers.org/clinvar/204252 ^@ NM_012203.1(GRHPR):c.608_609delCT (p.Pro203Argfs) http://identifiers.org/clinvar/204253 ^@ NM_012203.1(GRHPR):c.694delC (p.Gln232Argfs) http://identifiers.org/clinvar/204225 ^@ NM_012203.1(GRHPR):c.734+9G>A http://identifiers.org/clinvar/204244 ^@ NM_012203.1(GRHPR):c.735-1G>A http://identifiers.org/clinvar/204226 ^@ NM_012203.1(GRHPR):c.740A>G (p.Asp247Gly) http://identifiers.org/clinvar/204236 ^@ NM_012203.1(GRHPR):c.743T>A (p.Val248Asp) http://identifiers.org/clinvar/204228 ^@ NM_012203.1(GRHPR):c.871C>T (p.Leu291=) http://identifiers.org/clinvar/204237 ^@ NM_012203.1(GRHPR):c.905G>A (p.Arg302His) http://identifiers.org/clinvar/204238 ^@ NM_012203.1(GRHPR):c.934A>G (p.Asn312Asp) http://identifiers.org/clinvar/204229 ^@ NM_012203.1(GRHPR):c.963G>A (p.Pro321=) http://identifiers.org/clinvar/204240 ^@ NM_012203.1(GRHPR):c.965T>C (p.Met322Thr) http://identifiers.org/clinvar/204239 ^@ NM_012203.1(GRHPR):c.965T>G (p.Met322Arg) http://identifiers.org/clinvar/204227 ^@ NM_012203.1(GRHPR):c.866-25_866-24(8_9) http://identifiers.org/clinvar/204248 ^@ NG_008135.1:g.[8888_8892delins7465_7744;8897_8910dup] http://identifiers.org/clinvar/204265 ^@ NM_138413.3(HOGA1):c.107C>T (p.Ala36Val) http://identifiers.org/clinvar/204268 ^@ NM_138413.3(HOGA1):c.117C>A (p.Tyr39Ter) http://identifiers.org/clinvar/204266 ^@ NM_138413.3(HOGA1):c.134C>T (p.Pro45Leu) http://identifiers.org/clinvar/204269 ^@ NM_138413.3(HOGA1):c.208C>T (p.Arg70Ter) http://identifiers.org/clinvar/204254 ^@ NM_138413.3(HOGA1):c.212-21A>G http://identifiers.org/clinvar/204267 ^@ NM_138413.3(HOGA1):c.221T>G (p.Val74Gly) http://identifiers.org/clinvar/204280 ^@ NM_138413.3(HOGA1):c.227G>A (p.Gly76Asp) http://identifiers.org/clinvar/204281 ^@ NM_138413.3(HOGA1):c.308A>T (p.Asn103Ile) http://identifiers.org/clinvar/204270 ^@ NM_138413.3(HOGA1):c.337G>A (p.Glu113Lys) http://identifiers.org/clinvar/204255 ^@ NM_138413.3(HOGA1):c.341-82delA http://identifiers.org/clinvar/204271 ^@ NM_138413.3(HOGA1):c.346C>T (p.Gln116Ter) http://identifiers.org/clinvar/204256 ^@ NM_138413.3(HOGA1):c.396G>A (p.Ala132=) http://identifiers.org/clinvar/204259 ^@ NM_138413.3(HOGA1):c.469-31C>T http://identifiers.org/clinvar/204258 ^@ NM_138413.3(HOGA1):c.469-25C>T http://identifiers.org/clinvar/204257 ^@ NM_138413.3(HOGA1):c.469-13C>T http://identifiers.org/clinvar/204272 ^@ NM_138413.3(HOGA1):c.529G>T (p.Asp177Tyr) http://identifiers.org/clinvar/204282 ^@ NM_138413.3(HOGA1):c.533T>C (p.Leu178Pro) http://identifiers.org/clinvar/204283 ^@ NM_138413.3(HOGA1):c.535C>A (p.Pro179Thr) http://identifiers.org/clinvar/204273 ^@ NM_138413.3(HOGA1):c.569C>T (p.Pro190Leu) http://identifiers.org/clinvar/204285 ^@ NM_138413.3(HOGA1):c.700+5G>T http://identifiers.org/clinvar/204260 ^@ NM_138413.3(HOGA1):c.700+67G>A http://identifiers.org/clinvar/204263 ^@ NM_138413.3(HOGA1):c.701-18G>C http://identifiers.org/clinvar/204274 ^@ NM_138413.3(HOGA1):c.728C>A (p.Ala243Asp) http://identifiers.org/clinvar/204275 ^@ NM_138413.3(HOGA1):c.733G>A (p.Val245Ile) http://identifiers.org/clinvar/204261 ^@ NM_138413.3(HOGA1):c.745C>G (p.Gln249Glu) http://identifiers.org/clinvar/204276 ^@ NM_138413.3(HOGA1):c.763C>T (p.Arg255Ter) http://identifiers.org/clinvar/204286 ^@ NM_138413.3(HOGA1):c.834G>A (p.Ala278=) http://identifiers.org/clinvar/204262 ^@ NM_138413.3(HOGA1):c.834+42G>T http://identifiers.org/clinvar/204277 ^@ NM_138413.3(HOGA1):c.839C>T (p.Thr280Ile) http://identifiers.org/clinvar/204278 ^@ NM_138413.3(HOGA1):c.875T>C (p.Met292Thr) http://identifiers.org/clinvar/204279 ^@ NM_138413.3(HOGA1):c.907C>T (p.Arg303Cys) http://identifiers.org/clinvar/204264 ^@ NM_138413.3(HOGA1):c.912C>A (p.Ala304=) http://identifiers.org/clinvar/204284 ^@ NM_138413.3(HOGA1):c.973G>A (p.Gly325Ser) http://identifiers.org/clinvar/204287 ^@ NM_138413.3(HOGA1):c.158delA (p.Asp53Alafs) http://identifiers.org/clinvar/204288 ^@ NM_138413.3(HOGA1):c.803_805delTGC (p.Leu268del) http://identifiers.org/clinvar/204292 ^@ NM_001301339.1(CHCHD10):c.239C>T (p.Pro80Leu) http://identifiers.org/clinvar/204291 ^@ NM_001301339.1(CHCHD10):c.100C>T (p.Pro34Ser) http://identifiers.org/clinvar/242571 ^@ NM_001301339.1(CHCHD10):c.43C>G (p.Arg15Gly) http://identifiers.org/clinvar/204294 ^@ NM_004370.5(COL12A1):c.7840+1G>A http://identifiers.org/clinvar/204295 ^@ NM_004370.5(COL12A1):c.7001T>C (p.Ile2334Thr) http://identifiers.org/clinvar/204296 ^@ NM_004370.5(COL12A1):c.8357G>A (p.Gly2786Asp) http://identifiers.org/clinvar/204297 ^@ NM_004370.5(COL12A1):c.5893C>T (p.Arg1965Cys) http://identifiers.org/clinvar/204298 ^@ NM_002956.2(CLIP1):c.3028C>T (p.Gln1010Ter) http://identifiers.org/clinvar/204301 ^@ NM_138361.5(LRSAM1):c.1913-1G>A http://identifiers.org/clinvar/204303 ^@ NM_002180.2(IGHMBP2):c.449+1G>T http://identifiers.org/clinvar/204302 ^@ NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) http://identifiers.org/clinvar/204304 ^@ NM_002180.2(IGHMBP2):c.2784+1G>T http://identifiers.org/clinvar/204300 ^@ NM_001605.2(AARS):c.2333A>C (p.Glu778Ala) http://identifiers.org/clinvar/204306 ^@ NM_145207.2(SPATA5):c.556C>T (p.Arg186Ter) http://identifiers.org/clinvar/204313 ^@ NM_003632.2(CNTNAP1):c.2901_2902delCT (p.Cys968Phefs) http://identifiers.org/clinvar/204314 ^@ NM_024741.2(ZNF408):c.1363C>T (p.His455Tyr) http://identifiers.org/clinvar/204315 ^@ NM_024741.2(ZNF408):c.377G>A (p.Ser126Asn) http://identifiers.org/clinvar/204316 ^@ NM_024741.2(ZNF408):c.363_364delTG (p.Ala122Leufs) http://identifiers.org/clinvar/204317 ^@ NM_024741.2(ZNF408):c.1621C>T (p.Arg541Cys) http://identifiers.org/clinvar/204318 ^@ NM_000054.4(AVPR2):c.388A>T (p.Ile130Phe) http://identifiers.org/clinvar/204324 ^@ NM_001753.4(CAV1):c.400delA (p.Ile134Leufs) http://identifiers.org/clinvar/204338 ^@ NM_002253.2(KDR):c.3487C>T (p.Leu1163Phe) http://identifiers.org/clinvar/204337 ^@ NM_002253.2(KDR):c.3465G>A (p.Glu1155=) http://identifiers.org/clinvar/204336 ^@ NM_002253.2(KDR):c.3441C>G (p.Pro1147=) http://identifiers.org/clinvar/204335 ^@ NM_002253.2(KDR):c.3405-4C>T http://identifiers.org/clinvar/204329 ^@ NM_002253.2(KDR):c.2721G>C (p.Lys907Asn) http://identifiers.org/clinvar/204328 ^@ NM_002253.2(KDR):c.2705T>A (p.Leu902Gln) http://identifiers.org/clinvar/204327 ^@ NM_002253.2(KDR):c.2676T>A (p.Ile892=) http://identifiers.org/clinvar/204326 ^@ NM_002253.2(KDR):c.2656C>A (p.Leu886Ile) http://identifiers.org/clinvar/204325 ^@ NM_002253.2(KDR):c.2615-23C>T http://identifiers.org/clinvar/204334 ^@ NM_002253.2(KDR):c.2598A>C (p.Ala866=) http://identifiers.org/clinvar/204333 ^@ NM_002253.2(KDR):c.2544G>T (p.Val848=) http://identifiers.org/clinvar/204332 ^@ NM_002253.2(KDR):c.2510-27delT http://identifiers.org/clinvar/204331 ^@ NM_002253.2(KDR):c.2509+20T>A http://identifiers.org/clinvar/204330 ^@ NM_002253.2(KDR):c.2380G>A (p.Gly794Arg) http://identifiers.org/clinvar/204353 ^@ NM_182925.4(FLT4):c.3076delG (p.Glu1026Serfs) http://identifiers.org/clinvar/204354 ^@ NM_182925.4(FLT4):c.3072delG (p.Met1025Trpfs) http://identifiers.org/clinvar/204355 ^@ NM_182925.4(FLT4):c.3065C>T (p.Ala1022Val) http://identifiers.org/clinvar/204356 ^@ NM_182925.4(FLT4):c.3064delG (p.Ala1022Profs) http://identifiers.org/clinvar/204357 ^@ NM_182925.4(FLT4):c.3056delT (p.Phe1019Serfs) http://identifiers.org/clinvar/204358 ^@ NM_182925.4(FLT4):c.3002-9A>C http://identifiers.org/clinvar/204352 ^@ NM_182925.4(FLT4):c.2647+31del http://identifiers.org/clinvar/204339 ^@ NM_182925.4(FLT4):c.2542+20delG http://identifiers.org/clinvar/204340 ^@ NM_182925.4(FLT4):c.2542+18delC http://identifiers.org/clinvar/204341 ^@ NM_182925.4(FLT4):c.2542+12A>G http://identifiers.org/clinvar/204342 ^@ NM_182925.4(FLT4):c.2519delT (p.Phe840Serfs) http://identifiers.org/clinvar/204343 ^@ NM_182925.4(FLT4):c.2507G>A (p.Ser836Asn) http://identifiers.org/clinvar/204344 ^@ NM_182925.4(FLT4):c.2502T>A (p.Asp834Glu) http://identifiers.org/clinvar/204345 ^@ NM_182925.4(FLT4):c.2498A>C (p.Tyr833Ser) http://identifiers.org/clinvar/204346 ^@ NM_182925.4(FLT4):c.2496C>G (p.Ser832=) http://identifiers.org/clinvar/204347 ^@ NM_182925.4(FLT4):c.2470C>A (p.Leu824Met) http://identifiers.org/clinvar/204348 ^@ NM_182925.4(FLT4):c.2433C>A (p.Gly811=) http://identifiers.org/clinvar/204349 ^@ NM_182925.4(FLT4):c.2414A>C (p.His805Pro) http://identifiers.org/clinvar/204350 ^@ NM_182925.4(FLT4):c.2407-6C>G http://identifiers.org/clinvar/204351 ^@ NM_182925.4(FLT4):c.2407-7C>T http://identifiers.org/clinvar/204359 ^@ NM_002019.4(FLT1):c.2439_2466del28 (p.Tyr815Glyfs) http://identifiers.org/clinvar/204360 ^@ TCF4, (CTG)n EXPANSION http://identifiers.org/clinvar/204361 ^@ NC_000016.10:g.19934233_19956257del22025 http://identifiers.org/clinvar/204362 ^@ NC_000003.12:g.130044540_130087902del43363 http://identifiers.org/clinvar/204363 ^@ NC_000004.12:g.4106749_4157518del50770 http://identifiers.org/clinvar/204375 ^@ NM_019074.3(DLL4):c.361G>C (p.Ala121Pro) http://identifiers.org/clinvar/204373 ^@ NM_019074.3(DLL4):c.556C>T (p.Arg186Cys) http://identifiers.org/clinvar/204376 ^@ NM_019074.3(DLL4):c.583T>C (p.Phe195Leu) http://identifiers.org/clinvar/204374 ^@ NM_019074.3(DLL4):c.799C>A (p.Pro267Thr) http://identifiers.org/clinvar/204372 ^@ NM_019074.3(DLL4):c.1168T>C (p.Cys390Arg) http://identifiers.org/clinvar/204371 ^@ NM_019074.3(DLL4):c.1169G>A (p.Cys390Tyr) http://identifiers.org/clinvar/204370 ^@ NM_019074.3(DLL4):c.1365C>G (p.Cys455Trp) http://identifiers.org/clinvar/204368 ^@ NM_019074.3(DLL4):c.1660C>T (p.Gln554Ter) http://identifiers.org/clinvar/204369 ^@ NM_019074.3(DLL4):c.1672C>T (p.Arg558Ter) http://identifiers.org/clinvar/204380 ^@ NM_000709.3(BCKDHA):c.470A>C (p.Gln157Pro) http://identifiers.org/clinvar/204378 ^@ NM_000709.3(BCKDHA):c.476G>A (p.Arg159Gln) http://identifiers.org/clinvar/204377 ^@ NM_000709.3(BCKDHA):c.844G>C (p.Asp282His) http://identifiers.org/clinvar/204379 ^@ NM_000709.3(BCKDHA):c.1198A>T (p.Lys400Ter) http://identifiers.org/clinvar/204402 ^@ NM_201384.2(PLEC):c.46C>T (p.Arg16Ter) http://identifiers.org/clinvar/204491 ^@ NM_000612.5(IGF2):c.23C>A (p.Ser8Ter) http://identifiers.org/clinvar/204492 ^@ NM_001130144.2(LTBP3):c.1859dupG (p.Cys620Trpfs) http://identifiers.org/clinvar/204493 ^@ NM_001130144.2(LTBP3):c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs) http://identifiers.org/clinvar/204494 ^@ NM_001130144.2(LTBP3):c.421C>T (p.Gln141Ter) http://identifiers.org/clinvar/204495 ^@ NM_001130144.2(LTBP3):c.1531+1G>T http://identifiers.org/clinvar/204496 ^@ NM_001130144.2(LTBP3):c.2216delG (p.Gly739Alafs) http://identifiers.org/clinvar/204497 ^@ NM_001130144.2(LTBP3):c.2356delG (p.Val786Trpfs) http://identifiers.org/clinvar/204498 ^@ NM_031924.5(RSPH3):c.616C>T (p.Gln206Ter) http://identifiers.org/clinvar/204500 ^@ NM_031924.5(RSPH3):c.1192C>T (p.Arg398Ter) http://identifiers.org/clinvar/204501 ^@ NM_031924.5(RSPH3):c.1320_1323delTGAA (p.Asn440Lysfs) http://identifiers.org/clinvar/204502 ^@ NM_031924.5(RSPH3):c.1105C>T (p.Arg369Ter) http://identifiers.org/clinvar/204504 ^@ NM_002335.3(LRP5):c.52_60delCTGCTGCTG (p.Leu18_Leu20del) http://identifiers.org/clinvar/204580 ^@ NM_015909.3(NBAS):c.558_560delGAT (p.Ile187del) http://identifiers.org/clinvar/204581 ^@ NM_015909.3(NBAS):c.686dupT (p.Ser230Glnfs) http://identifiers.org/clinvar/204582 ^@ NM_015909.3(NBAS):c.2708T>G (p.Leu903Arg) http://identifiers.org/clinvar/204583 ^@ NM_015909.3(NBAS):c.603_605delCCT (p.Leu202del) http://identifiers.org/clinvar/204584 ^@ NM_015909.3(NBAS):c.3164T>C (p.Leu1055Pro) http://identifiers.org/clinvar/204585 ^@ NM_000263.3(NAGLU):c.1208T>C (p.Ile403Thr) http://identifiers.org/clinvar/204586 ^@ NM_000263.3(NAGLU):c.367G>T (p.Glu123Ter) http://identifiers.org/clinvar/204587 ^@ NM_203290.3(POLR1C):c.221A>G (p.Asn74Ser) http://identifiers.org/clinvar/204588 ^@ NM_203290.3(POLR1C):c.95A>T (p.Asn32Ile) http://identifiers.org/clinvar/204589 ^@ NM_203290.3(POLR1C):c.436T>C (p.Cys146Arg) http://identifiers.org/clinvar/204590 ^@ NM_203290.3(POLR1C):c.883_885delAAG (p.Lys295del) http://identifiers.org/clinvar/204591 ^@ NM_203290.3(POLR1C):c.77C>T (p.Thr26Ile) http://identifiers.org/clinvar/204592 ^@ NM_203290.3(POLR1C):c.326G>A (p.Arg109His) http://identifiers.org/clinvar/204593 ^@ NM_001244189.1(KIAA0586):c.428delG (p.Arg143Lysfs) http://identifiers.org/clinvar/204594 ^@ NM_001244189.1(KIAA0586):c.1413-1G>C http://identifiers.org/clinvar/204595 ^@ NM_001244189.1(KIAA0586):c.1159C>T (p.Gln387Ter) http://identifiers.org/clinvar/204596 ^@ NM_001244189.1(KIAA0586):c.863_864delAA (p.Gln288Argfs) http://identifiers.org/clinvar/204597 ^@ NM_001244189.1(KIAA0586):c.1697A>T (p.Asp566Val) http://identifiers.org/clinvar/204598 ^@ NM_000156.5(GAMT):c.*11C>T http://identifiers.org/clinvar/204600 ^@ NM_000310.3(PPT1):c.*6G>A http://identifiers.org/clinvar/204601 ^@ NM_001083962.1(TCF4):c.*22G>A http://identifiers.org/clinvar/204613 ^@ NM_018359.3(UFSP2):c.868T>C (p.Tyr290His) http://identifiers.org/clinvar/204622 ^@ NM_001206641.2(COA6):c.286T>C (p.Trp96Arg) http://identifiers.org/clinvar/204783 ^@ NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) http://identifiers.org/clinvar/205075 ^@ NM_000748.2(CHRNB2):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/205061 ^@ NM_000748.2(CHRNB2):c.77C>T (p.Thr26Met) http://identifiers.org/clinvar/205062 ^@ NM_000748.2(CHRNB2):c.140G>A (p.Arg47His) http://identifiers.org/clinvar/205063 ^@ NM_000748.2(CHRNB2):c.212A>G (p.His71Arg) http://identifiers.org/clinvar/205056 ^@ NM_000748.2(CHRNB2):c.297T>C (p.Phe99=) http://identifiers.org/clinvar/205066 ^@ NM_000748.2(CHRNB2):c.329A>C (p.Lys110Thr) http://identifiers.org/clinvar/205077 ^@ NM_000748.2(CHRNB2):c.363_365delCAA (p.Asn122del) http://identifiers.org/clinvar/205067 ^@ NM_000748.2(CHRNB2):c.549C>G (p.Ile183Met) http://identifiers.org/clinvar/205068 ^@ NM_000748.2(CHRNB2):c.620C>G (p.Ala207Gly) http://identifiers.org/clinvar/205069 ^@ NM_000748.2(CHRNB2):c.640G>A (p.Glu214Lys) http://identifiers.org/clinvar/205070 ^@ NM_000748.2(CHRNB2):c.659C>T (p.Thr220Met) http://identifiers.org/clinvar/205071 ^@ NM_000748.2(CHRNB2):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/205072 ^@ NM_000748.2(CHRNB2):c.848T>C (p.Ile283Thr) http://identifiers.org/clinvar/205073 ^@ NM_000748.2(CHRNB2):c.910A>G (p.Thr304Ala) http://identifiers.org/clinvar/205057 ^@ NM_000748.2(CHRNB2):c.1114G>A (p.Gly372Ser) http://identifiers.org/clinvar/205078 ^@ NM_000748.2(CHRNB2):c.1132_1134delTTC (p.Phe378del) http://identifiers.org/clinvar/205058 ^@ NM_000748.2(CHRNB2):c.1171G>C (p.Val391Leu) http://identifiers.org/clinvar/205079 ^@ NM_000748.2(CHRNB2):c.1171_1180delGTCAACCGCGinsCTGACCGACTCCTGCA (p.Val391_Ala394delinsLeuThrAspSerCysThr) http://identifiers.org/clinvar/205059 ^@ NM_000748.2(CHRNB2):c.1234G>A (p.Gly412Ser) http://identifiers.org/clinvar/205060 ^@ NM_000748.2(CHRNB2):c.1235G>A (p.Gly412Asp) http://identifiers.org/clinvar/205074 ^@ NM_000748.2(CHRNB2):c.1314G>A (p.Met438Ile) http://identifiers.org/clinvar/205080 ^@ NM_000748.2(CHRNB2):c.1407_1410delCTGT (p.Cys470Serfs) http://identifiers.org/clinvar/205076 ^@ NM_000748.2(CHRNB2):c.1463C>T (p.Thr488Ile) http://identifiers.org/clinvar/205824 ^@ NM_002241.4(KCNJ10):c.1061A>G (p.Lys354Arg) http://identifiers.org/clinvar/205823 ^@ NM_002241.4(KCNJ10):c.1043G>A (p.Arg348His) http://identifiers.org/clinvar/205822 ^@ NM_002241.4(KCNJ10):c.1021G>C (p.Gly341Arg) http://identifiers.org/clinvar/205830 ^@ NM_002241.4(KCNJ10):c.998T>C (p.Val333Ala) http://identifiers.org/clinvar/205815 ^@ NM_002241.4(KCNJ10):c.735C>G (p.Asp245Glu) http://identifiers.org/clinvar/205821 ^@ NM_002241.4(KCNJ10):c.688C>T (p.Arg230Trp) http://identifiers.org/clinvar/205820 ^@ NM_002241.4(KCNJ10):c.685A>G (p.Ile229Val) http://identifiers.org/clinvar/205829 ^@ NM_002241.4(KCNJ10):c.652C>T (p.Leu218Phe) http://identifiers.org/clinvar/205828 ^@ NM_002241.4(KCNJ10):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/205827 ^@ NM_002241.4(KCNJ10):c.301C>A (p.Pro101Thr) http://identifiers.org/clinvar/205819 ^@ NM_002241.4(KCNJ10):c.250G>A (p.Val84Met) http://identifiers.org/clinvar/205812 ^@ NM_002241.4(KCNJ10):c.234A>C (p.Thr78=) http://identifiers.org/clinvar/205818 ^@ NM_002241.4(KCNJ10):c.221C>T (p.Thr74Ile) http://identifiers.org/clinvar/205826 ^@ NM_002241.4(KCNJ10):c.179T>C (p.Ile60Thr) http://identifiers.org/clinvar/205817 ^@ NM_002241.4(KCNJ10):c.52C>T (p.Arg18Trp) http://identifiers.org/clinvar/205825 ^@ NM_002241.4(KCNJ10):c.-1+1G>T http://identifiers.org/clinvar/204882 ^@ NM_000702.3(ATP1A2):c.-14C>G http://identifiers.org/clinvar/204902 ^@ NM_000702.3(ATP1A2):c.8G>A (p.Arg3His) http://identifiers.org/clinvar/204880 ^@ NM_000702.3(ATP1A2):c.13-14delC http://identifiers.org/clinvar/204881 ^@ NM_000702.3(ATP1A2):c.25T>A (p.Tyr9Asn) http://identifiers.org/clinvar/204900 ^@ NM_000702.3(ATP1A2):c.56G>T (p.Gly19Val) http://identifiers.org/clinvar/204909 ^@ NM_000702.3(ATP1A2):c.128A>G (p.Lys43Arg) http://identifiers.org/clinvar/204901 ^@ NM_000702.3(ATP1A2):c.152G>T (p.Arg51Leu) http://identifiers.org/clinvar/204910 ^@ NM_000702.3(ATP1A2):c.192G>T (p.Gln64His) http://identifiers.org/clinvar/204883 ^@ NM_000702.3(ATP1A2):c.246C>G (p.Pro82=) http://identifiers.org/clinvar/204903 ^@ NM_000702.3(ATP1A2):c.274C>T (p.Arg92Cys) http://identifiers.org/clinvar/204904 ^@ NM_000702.3(ATP1A2):c.481A>G (p.Asn161Asp) http://identifiers.org/clinvar/204869 ^@ NM_000702.3(ATP1A2):c.1092G>A (p.Thr364=) http://identifiers.org/clinvar/204885 ^@ NM_000702.3(ATP1A2):c.1127C>G (p.Thr376Arg) http://identifiers.org/clinvar/204886 ^@ NM_000702.3(ATP1A2):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/204870 ^@ NM_000702.3(ATP1A2):c.1216+5T>G http://identifiers.org/clinvar/204871 ^@ NM_000702.3(ATP1A2):c.1317C>T (p.Ser439=) http://identifiers.org/clinvar/204887 ^@ NM_000702.3(ATP1A2):c.1415A>G (p.Asn472Ser) http://identifiers.org/clinvar/204872 ^@ NM_000702.3(ATP1A2):c.1462-5T>A http://identifiers.org/clinvar/204888 ^@ NM_000702.3(ATP1A2):c.1474G>A (p.Glu492Lys) http://identifiers.org/clinvar/204889 ^@ NM_000702.3(ATP1A2):c.1501G>A (p.Val501Met) http://identifiers.org/clinvar/204907 ^@ NM_000702.3(ATP1A2):c.1541G>A (p.Arg514Gln) http://identifiers.org/clinvar/204908 ^@ NM_000702.3(ATP1A2):c.1690C>T (p.Arg564Trp) http://identifiers.org/clinvar/204891 ^@ NM_000702.3(ATP1A2):c.1691G>A (p.Arg564Gln) http://identifiers.org/clinvar/204892 ^@ NM_000702.3(ATP1A2):c.1821C>T (p.Gly607=) http://identifiers.org/clinvar/204893 ^@ NM_000702.3(ATP1A2):c.1891A>G (p.Ile631Val) http://identifiers.org/clinvar/204895 ^@ NM_000702.3(ATP1A2):c.2271G>A (p.Thr757=) http://identifiers.org/clinvar/204896 ^@ NM_000702.3(ATP1A2):c.2273G>C (p.Gly758Ala) http://identifiers.org/clinvar/204897 ^@ NM_000702.3(ATP1A2):c.2374A>G (p.Ile792Val) http://identifiers.org/clinvar/204873 ^@ NM_000702.3(ATP1A2):c.2439+6C>T http://identifiers.org/clinvar/204899 ^@ NM_000702.3(ATP1A2):c.2517C>G (p.Asp839Glu) http://identifiers.org/clinvar/204874 ^@ NM_000702.3(ATP1A2):c.2562C>T (p.Ile854=) http://identifiers.org/clinvar/204875 ^@ NM_000702.3(ATP1A2):c.2841-20dupC http://identifiers.org/clinvar/204876 ^@ NM_000702.3(ATP1A2):c.2877G>A (p.Thr959=) http://identifiers.org/clinvar/204877 ^@ NM_000702.3(ATP1A2):c.2967C>T (p.Phe989=) http://identifiers.org/clinvar/204878 ^@ NM_000702.3(ATP1A2):c.*6T>C http://identifiers.org/clinvar/204879 ^@ NM_000702.3(ATP1A2):c.*15_*17delGAA http://identifiers.org/clinvar/206628 ^@ NM_000310.3(PPT1):c.798+8G>A http://identifiers.org/clinvar/206639 ^@ NM_000310.3(PPT1):c.762A>C (p.Glu254Asp) http://identifiers.org/clinvar/206650 ^@ NM_000310.3(PPT1):c.718G>A (p.Asp240Asn) http://identifiers.org/clinvar/206638 ^@ NM_000310.3(PPT1):c.627+4A>G http://identifiers.org/clinvar/206648 ^@ NM_000310.3(PPT1):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/206647 ^@ NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) http://identifiers.org/clinvar/206645 ^@ NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) http://identifiers.org/clinvar/206644 ^@ NM_000310.3(PPT1):c.367G>A (p.Ala123Thr) http://identifiers.org/clinvar/206643 ^@ NM_000310.3(PPT1):c.362+5G>A http://identifiers.org/clinvar/206635 ^@ NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) http://identifiers.org/clinvar/206642 ^@ NM_000310.3(PPT1):c.234+1G>A http://identifiers.org/clinvar/206641 ^@ NM_000310.3(PPT1):c.199G>A (p.Val67Ile) http://identifiers.org/clinvar/206646 ^@ NM_000310.3(PPT1):c.86C>A (p.Pro29Gln) http://identifiers.org/clinvar/206637 ^@ NM_000310.3(PPT1):c.62C>T (p.Ser21Phe) http://identifiers.org/clinvar/206636 ^@ NM_000310.3(PPT1):c.18C>T (p.Cys6=) http://identifiers.org/clinvar/206651 ^@ NM_000310.3(PPT1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/207232 ^@ NM_006516.2(SLC2A1):c.1445T>C (p.Leu482Pro) http://identifiers.org/clinvar/207217 ^@ NM_006516.2(SLC2A1):c.1408G>T (p.Gly470Trp) http://identifiers.org/clinvar/207216 ^@ NM_006516.2(SLC2A1):c.1408G>C (p.Gly470Arg) http://identifiers.org/clinvar/207215 ^@ NM_006516.2(SLC2A1):c.1408G>A (p.Gly470Arg) http://identifiers.org/clinvar/207214 ^@ NM_006516.2(SLC2A1):c.1396G>A (p.Gly466Ser) http://identifiers.org/clinvar/207231 ^@ NM_006516.2(SLC2A1):c.1286G>C (p.Cys429Ser) http://identifiers.org/clinvar/207213 ^@ NM_006516.2(SLC2A1):c.1272T>G (p.Tyr424Ter) http://identifiers.org/clinvar/207212 ^@ NM_006516.2(SLC2A1):c.1198C>T (p.Arg400Cys) http://identifiers.org/clinvar/207209 ^@ NM_006516.2(SLC2A1):c.1126G>A (p.Val376Met) http://identifiers.org/clinvar/207208 ^@ NM_006516.2(SLC2A1):c.1109T>C (p.Val370Ala) http://identifiers.org/clinvar/207207 ^@ NM_006516.2(SLC2A1):c.1108G>A (p.Val370Met) http://identifiers.org/clinvar/207206 ^@ NM_006516.2(SLC2A1):c.1105A>G (p.Ile369Val) http://identifiers.org/clinvar/207205 ^@ NM_006516.2(SLC2A1):c.1049T>C (p.Leu350Pro) http://identifiers.org/clinvar/207204 ^@ NM_006516.2(SLC2A1):c.1015A>G (p.Ile339Val) http://identifiers.org/clinvar/207224 ^@ NM_006516.2(SLC2A1):c.1006delC (p.Leu336Cysfs) http://identifiers.org/clinvar/207196 ^@ NM_006516.2(SLC2A1):c.988C>T (p.Arg330Ter) http://identifiers.org/clinvar/207203 ^@ NM_006516.2(SLC2A1):c.982G>T (p.Val328Leu) http://identifiers.org/clinvar/207223 ^@ NM_006516.2(SLC2A1):c.979delG (p.Val327Trpfs) http://identifiers.org/clinvar/207222 ^@ NM_006516.2(SLC2A1):c.972+1_972+3delGTG http://identifiers.org/clinvar/207202 ^@ NM_006516.2(SLC2A1):c.972G>A (p.Ser324=) http://identifiers.org/clinvar/207201 ^@ NM_006516.2(SLC2A1):c.971C>T (p.Ser324Leu) http://identifiers.org/clinvar/207200 ^@ NM_006516.2(SLC2A1):c.945C>G (p.Ile315Met) http://identifiers.org/clinvar/207199 ^@ NM_006516.2(SLC2A1):c.895G>A (p.Glu299Lys) http://identifiers.org/clinvar/207229 ^@ NM_006516.2(SLC2A1):c.884C>T (p.Thr295Met) http://identifiers.org/clinvar/207198 ^@ NM_006516.2(SLC2A1):c.865G>A (p.Ala289Thr) http://identifiers.org/clinvar/207197 ^@ NM_006516.2(SLC2A1):c.848A>G (p.Gln283Arg) http://identifiers.org/clinvar/207221 ^@ NM_006516.2(SLC2A1):c.828_841delGGTGCTGCAGCTGT (p.Val277Profs) http://identifiers.org/clinvar/207194 ^@ NM_006516.2(SLC2A1):c.707A>T (p.Asp236Val) http://identifiers.org/clinvar/207193 ^@ NM_006516.2(SLC2A1):c.667C>T (p.Arg223Trp) http://identifiers.org/clinvar/207192 ^@ NM_006516.2(SLC2A1):c.631C>T (p.Pro211Ser) http://identifiers.org/clinvar/207220 ^@ NM_006516.2(SLC2A1):c.539delT (p.Met180Argfs) http://identifiers.org/clinvar/207227 ^@ NM_006516.2(SLC2A1):c.458G>T (p.Arg153Leu) http://identifiers.org/clinvar/207190 ^@ NM_006516.2(SLC2A1):c.388G>C (p.Gly130Arg) http://identifiers.org/clinvar/207189 ^@ NM_006516.2(SLC2A1):c.313G>A (p.Val105Met) http://identifiers.org/clinvar/207182 ^@ NM_006516.2(SLC2A1):c.276-19C>T http://identifiers.org/clinvar/207181 ^@ NM_006516.2(SLC2A1):c.274C>A (p.Arg92=) http://identifiers.org/clinvar/207180 ^@ NM_006516.2(SLC2A1):c.258C>T (p.Phe86=) http://identifiers.org/clinvar/207219 ^@ NM_006516.2(SLC2A1):c.207_216delGGCCATCTTTinsC (p.Ala70_Phe72del) http://identifiers.org/clinvar/207188 ^@ NM_006516.2(SLC2A1):c.158G>T (p.Gly53Val) http://identifiers.org/clinvar/207187 ^@ NM_006516.2(SLC2A1):c.138G>C (p.Gln46His) http://identifiers.org/clinvar/207186 ^@ NM_006516.2(SLC2A1):c.125A>C (p.Glu42Ala) http://identifiers.org/clinvar/207218 ^@ NM_006516.2(SLC2A1):c.115-3delC http://identifiers.org/clinvar/207185 ^@ NM_006516.2(SLC2A1):c.103G>T (p.Ala35Ser) http://identifiers.org/clinvar/207225 ^@ NM_006516.2(SLC2A1):c.19-2A>G http://identifiers.org/clinvar/207179 ^@ NM_006516.2(SLC2A1):c.19-12G>A http://identifiers.org/clinvar/207184 ^@ NM_006516.2(SLC2A1):c.18+1G>A http://identifiers.org/clinvar/207178 ^@ NM_006516.2(SLC2A1):c.-26G>C http://identifiers.org/clinvar/207183 ^@ NM_006516.2(SLC2A1):c.-50G>T http://identifiers.org/clinvar/206049 ^@ NM_018328.4(MBD5):c.-831+9dupT http://identifiers.org/clinvar/206057 ^@ NM_018328.4(MBD5):c.205A>G (p.Ile69Val) http://identifiers.org/clinvar/206050 ^@ NM_018328.4(MBD5):c.217-16G>C http://identifiers.org/clinvar/206058 ^@ NM_018328.4(MBD5):c.488A>G (p.Glu163Gly) http://identifiers.org/clinvar/206059 ^@ NM_018328.4(MBD5):c.520T>A (p.Ser174Thr) http://identifiers.org/clinvar/206060 ^@ NM_018328.4(MBD5):c.644G>A (p.Arg215His) http://identifiers.org/clinvar/206061 ^@ NM_018328.4(MBD5):c.740C>T (p.Pro247Leu) http://identifiers.org/clinvar/206064 ^@ NM_018328.4(MBD5):c.884C>G (p.Thr295Ser) http://identifiers.org/clinvar/206110 ^@ NM_018328.4(MBD5):c.890_891delTA (p.Ile297Thrfs) http://identifiers.org/clinvar/206066 ^@ NM_018328.4(MBD5):c.935A>T (p.Lys312Ile) http://identifiers.org/clinvar/206065 ^@ NM_018328.4(MBD5):c.961A>G (p.Met321Val) http://identifiers.org/clinvar/206067 ^@ NM_018328.4(MBD5):c.1055C>T (p.Thr352Ile) http://identifiers.org/clinvar/206068 ^@ NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu) http://identifiers.org/clinvar/206069 ^@ NM_018328.4(MBD5):c.1232C>T (p.Thr411Ile) http://identifiers.org/clinvar/206112 ^@ NM_018328.4(MBD5):c.1382G>A (p.Arg461His) http://identifiers.org/clinvar/206072 ^@ NM_018328.4(MBD5):c.1535C>T (p.Ser512Phe) http://identifiers.org/clinvar/206073 ^@ NM_018328.4(MBD5):c.1591A>G (p.Asn531Asp) http://identifiers.org/clinvar/206075 ^@ NM_018328.4(MBD5):c.1961A>T (p.Asp654Val) http://identifiers.org/clinvar/206076 ^@ NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr) http://identifiers.org/clinvar/206078 ^@ NM_018328.4(MBD5):c.1999T>A (p.Leu667Met) http://identifiers.org/clinvar/206079 ^@ NM_018328.4(MBD5):c.2000T>G (p.Leu667Trp) http://identifiers.org/clinvar/206113 ^@ NM_018328.4(MBD5):c.2122A>G (p.Met708Val) http://identifiers.org/clinvar/206080 ^@ NM_018328.4(MBD5):c.2162C>T (p.Pro721Leu) http://identifiers.org/clinvar/206082 ^@ NM_018328.4(MBD5):c.2196C>G (p.Cys732Trp) http://identifiers.org/clinvar/206083 ^@ NM_018328.4(MBD5):c.2257C>A (p.Pro753Thr) http://identifiers.org/clinvar/206052 ^@ NM_018328.4(MBD5):c.2274C>T (p.Ala758=) http://identifiers.org/clinvar/206084 ^@ NM_018328.4(MBD5):c.2399G>A (p.Gly800Asp) http://identifiers.org/clinvar/206085 ^@ NM_018328.4(MBD5):c.2413A>C (p.Asn805His) http://identifiers.org/clinvar/206086 ^@ NM_018328.4(MBD5):c.2431C>A (p.Pro811Thr) http://identifiers.org/clinvar/206087 ^@ NM_018328.4(MBD5):c.2632C>A (p.Pro878Thr) http://identifiers.org/clinvar/206114 ^@ NM_018328.4(MBD5):c.2632C>G (p.Pro878Ala) http://identifiers.org/clinvar/206088 ^@ NM_018328.4(MBD5):c.2645A>T (p.Gln882Leu) http://identifiers.org/clinvar/206090 ^@ NM_018328.4(MBD5):c.2828A>G (p.Gln943Arg) http://identifiers.org/clinvar/206115 ^@ NM_018328.4(MBD5):c.2979G>C (p.Gln993His) http://identifiers.org/clinvar/206091 ^@ NM_018328.4(MBD5):c.2981C>T (p.Ala994Val) http://identifiers.org/clinvar/206053 ^@ NM_018328.4(MBD5):c.3055-9T>C http://identifiers.org/clinvar/206093 ^@ NM_018328.4(MBD5):c.3087C>G (p.Asn1029Lys) http://identifiers.org/clinvar/206095 ^@ NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) http://identifiers.org/clinvar/206096 ^@ NM_018328.4(MBD5):c.3205C>A (p.Gln1069Lys) http://identifiers.org/clinvar/206116 ^@ NM_018328.4(MBD5):c.3355G>T (p.Ala1119Ser) http://identifiers.org/clinvar/206098 ^@ NM_018328.4(MBD5):c.3361A>G (p.Ser1121Gly) http://identifiers.org/clinvar/206099 ^@ NM_018328.4(MBD5):c.3376T>C (p.Phe1126Leu) http://identifiers.org/clinvar/206117 ^@ NM_018328.4(MBD5):c.3385T>C (p.Ser1129Pro) http://identifiers.org/clinvar/206100 ^@ NM_018328.4(MBD5):c.3422G>A (p.Ser1141Asn) http://identifiers.org/clinvar/206101 ^@ NM_018328.4(MBD5):c.3439C>T (p.Arg1147Trp) http://identifiers.org/clinvar/206118 ^@ NM_018328.4(MBD5):c.3440G>A (p.Arg1147Gln) http://identifiers.org/clinvar/206102 ^@ NM_018328.4(MBD5):c.3490G>A (p.Ala1164Thr) http://identifiers.org/clinvar/206103 ^@ NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) http://identifiers.org/clinvar/206104 ^@ NM_018328.4(MBD5):c.3595G>A (p.Gly1199Arg) http://identifiers.org/clinvar/206054 ^@ NM_018328.4(MBD5):c.3702C>T (p.Val1234=) http://identifiers.org/clinvar/206105 ^@ NM_018328.4(MBD5):c.3767G>A (p.Gly1256Glu) http://identifiers.org/clinvar/206106 ^@ NM_018328.4(MBD5):c.3896G>A (p.Arg1299Gln) http://identifiers.org/clinvar/206055 ^@ NM_018328.4(MBD5):c.4033G>A (p.Val1345Ile) http://identifiers.org/clinvar/206107 ^@ NM_018328.4(MBD5):c.4138C>T (p.Pro1380Ser) http://identifiers.org/clinvar/206108 ^@ NM_018328.4(MBD5):c.4252G>A (p.Glu1418Lys) http://identifiers.org/clinvar/206056 ^@ NM_018328.4(MBD5):c.4264-11C>T http://identifiers.org/clinvar/206109 ^@ NM_018328.4(MBD5):c.4316G>A (p.Arg1439His) http://identifiers.org/clinvar/204942 ^@ NM_000726.4(CACNB4):c.1550G>A (p.Arg517Gln) http://identifiers.org/clinvar/204936 ^@ NM_000726.4(CACNB4):c.1549C>T (p.Arg517Ter) http://identifiers.org/clinvar/204935 ^@ NM_000726.4(CACNB4):c.1355G>A (p.Arg452Lys) http://identifiers.org/clinvar/204941 ^@ NM_000726.4(CACNB4):c.1348A>G (p.Ile450Val) http://identifiers.org/clinvar/204934 ^@ NM_000726.4(CACNB4):c.1343C>G (p.Ser448Cys) http://identifiers.org/clinvar/204932 ^@ NM_000726.4(CACNB4):c.1280C>A (p.Pro427His) http://identifiers.org/clinvar/204931 ^@ NM_000726.4(CACNB4):c.1031G>A (p.Arg344Gln) http://identifiers.org/clinvar/204929 ^@ NM_000726.4(CACNB4):c.839T>C (p.Ile280Thr) http://identifiers.org/clinvar/204922 ^@ NM_000726.4(CACNB4):c.792T>C (p.Ser264=) http://identifiers.org/clinvar/204928 ^@ NM_000726.4(CACNB4):c.656T>C (p.Met219Thr) http://identifiers.org/clinvar/204927 ^@ NM_000726.4(CACNB4):c.517G>A (p.Gly173Arg) http://identifiers.org/clinvar/204926 ^@ NM_000726.4(CACNB4):c.371A>G (p.Asp124Gly) http://identifiers.org/clinvar/204925 ^@ NM_000726.4(CACNB4):c.313G>A (p.Gly105Ser) http://identifiers.org/clinvar/204921 ^@ NM_000726.4(CACNB4):c.268-16A>G http://identifiers.org/clinvar/204924 ^@ NM_000726.4(CACNB4):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/204923 ^@ NM_000726.4(CACNB4):c.45G>A (p.Pro15=) http://identifiers.org/clinvar/204939 ^@ NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) http://identifiers.org/clinvar/204938 ^@ NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) http://identifiers.org/clinvar/206959 ^@ NM_021007.2(SCN2A):c.-72G>T http://identifiers.org/clinvar/207031 ^@ NM_021007.2(SCN2A):c.23C>T (p.Pro8Leu) http://identifiers.org/clinvar/207032 ^@ NM_021007.2(SCN2A):c.70G>A (p.Ala24Thr) http://identifiers.org/clinvar/207033 ^@ NM_021007.2(SCN2A):c.82C>T (p.Arg28Cys) http://identifiers.org/clinvar/207034 ^@ NM_021007.2(SCN2A):c.100G>A (p.Ala34Thr) http://identifiers.org/clinvar/207035 ^@ NM_021007.2(SCN2A):c.106A>G (p.Arg36Gly) http://identifiers.org/clinvar/206960 ^@ NM_021007.2(SCN2A):c.177A>C (p.Gly59=) http://identifiers.org/clinvar/207037 ^@ NM_021007.2(SCN2A):c.387-2A>G http://identifiers.org/clinvar/207079 ^@ NM_021007.2(SCN2A):c.425delA (p.Asn142Thrfs) http://identifiers.org/clinvar/207038 ^@ NM_021007.2(SCN2A):c.543A>C (p.Leu181Phe) http://identifiers.org/clinvar/207039 ^@ NM_021007.2(SCN2A):c.605+1G>T http://identifiers.org/clinvar/207088 ^@ NM_021007.2(SCN2A):c.647T>G (p.Leu216Trp) http://identifiers.org/clinvar/207081 ^@ NM_021007.2(SCN2A):c.708delC (p.Ile237Leufs) http://identifiers.org/clinvar/207093 ^@ NM_001040142.1(SCN2A):c.718_719delGCinsTT (p.Ala240Phe) http://identifiers.org/clinvar/207041 ^@ NM_021007.2(SCN2A):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/207044 ^@ NM_021007.2(SCN2A):c.890A>G (p.Asn297Ser) http://identifiers.org/clinvar/207094 ^@ NM_021007.2(SCN2A):c.916_918dupACT (p.Thr306_Phe307insThr) http://identifiers.org/clinvar/207045 ^@ NM_021007.2(SCN2A):c.952G>A (p.Glu318Lys) http://identifiers.org/clinvar/206961 ^@ NM_021007.2(SCN2A):c.982T>G (p.Phe328Val) http://identifiers.org/clinvar/207046 ^@ NM_021007.2(SCN2A):c.1027G>T (p.Asp343Tyr) http://identifiers.org/clinvar/207047 ^@ NM_021007.2(SCN2A):c.1035-15C>G http://identifiers.org/clinvar/207048 ^@ NM_021007.2(SCN2A):c.1055T>C (p.Ile352Thr) http://identifiers.org/clinvar/207049 ^@ NM_021007.2(SCN2A):c.1108T>G (p.Phe370Val) http://identifiers.org/clinvar/207050 ^@ NM_021007.2(SCN2A):c.1147C>G (p.Gln383Glu) http://identifiers.org/clinvar/207052 ^@ NM_021007.2(SCN2A):c.1267G>C (p.Val423Leu) http://identifiers.org/clinvar/207053 ^@ NM_021007.2(SCN2A):c.1271T>C (p.Val424Ala) http://identifiers.org/clinvar/207054 ^@ NM_021007.2(SCN2A):c.1283A>G (p.Tyr428Cys) http://identifiers.org/clinvar/207055 ^@ NM_021007.2(SCN2A):c.1289A>C (p.Glu430Ala) http://identifiers.org/clinvar/207056 ^@ NM_021007.2(SCN2A):c.1289A>G (p.Glu430Gly) http://identifiers.org/clinvar/207057 ^@ NM_021007.2(SCN2A):c.1312G>A (p.Glu438Lys) http://identifiers.org/clinvar/207058 ^@ NM_021007.2(SCN2A):c.1397C>T (p.Ala466Val) http://identifiers.org/clinvar/207089 ^@ NM_021007.2(SCN2A):c.1530G>T (p.Gln510His) http://identifiers.org/clinvar/207059 ^@ NM_021007.2(SCN2A):c.1558A>T (p.Asn520Tyr) http://identifiers.org/clinvar/207090 ^@ NM_021007.2(SCN2A):c.1577C>T (p.Ser526Leu) http://identifiers.org/clinvar/207061 ^@ NM_021007.2(SCN2A):c.1613G>A (p.Arg538His) http://identifiers.org/clinvar/207062 ^@ NM_021007.2(SCN2A):c.1712G>A (p.Arg571His) http://identifiers.org/clinvar/207063 ^@ NM_021007.2(SCN2A):c.1729C>A (p.Leu577Ile) http://identifiers.org/clinvar/207064 ^@ NM_021007.2(SCN2A):c.1759A>C (p.Ile587Leu) http://identifiers.org/clinvar/207065 ^@ NM_021007.2(SCN2A):c.1835T>C (p.Phe612Ser) http://identifiers.org/clinvar/207042 ^@ NM_021007.2(SCN2A):c.1837G>A (p.Val613Met) http://identifiers.org/clinvar/207091 ^@ NM_021007.2(SCN2A):c.1841C>T (p.Pro614Leu) http://identifiers.org/clinvar/207092 ^@ NM_021007.2(SCN2A):c.1861C>T (p.Arg621Cys) http://identifiers.org/clinvar/207066 ^@ NM_021007.2(SCN2A):c.1901T>C (p.Val634Ala) http://identifiers.org/clinvar/207067 ^@ NM_021007.2(SCN2A):c.1904T>C (p.Leu635Pro) http://identifiers.org/clinvar/207068 ^@ NM_021007.2(SCN2A):c.1939G>A (p.Ala647Thr) http://identifiers.org/clinvar/207069 ^@ NM_021007.2(SCN2A):c.1976G>A (p.Gly659Asp) http://identifiers.org/clinvar/206962 ^@ NM_021007.2(SCN2A):c.1984A>G (p.Thr662Ala) http://identifiers.org/clinvar/207071 ^@ NM_021007.2(SCN2A):c.2050C>T (p.Arg684Trp) http://identifiers.org/clinvar/207072 ^@ NM_021007.2(SCN2A):c.2057G>T (p.Ser686Ile) http://identifiers.org/clinvar/207073 ^@ NM_021007.2(SCN2A):c.2149+5G>A http://identifiers.org/clinvar/206963 ^@ NM_021007.2(SCN2A):c.2149+8A>G http://identifiers.org/clinvar/206964 ^@ NM_021007.2(SCN2A):c.2149+19G>A http://identifiers.org/clinvar/206965 ^@ NM_021007.2(SCN2A):c.2389G>A (p.Val797Ile) http://identifiers.org/clinvar/206967 ^@ NM_021007.2(SCN2A):c.2562+1G>T http://identifiers.org/clinvar/206968 ^@ NM_021007.2(SCN2A):c.2604T>G (p.Asn868Lys) http://identifiers.org/clinvar/206970 ^@ NM_021007.2(SCN2A):c.2642T>A (p.Leu881Gln) http://identifiers.org/clinvar/206972 ^@ NM_021007.2(SCN2A):c.2657T>C (p.Leu886Ser) http://identifiers.org/clinvar/206974 ^@ NM_021007.2(SCN2A):c.2695G>A (p.Gly899Ser) http://identifiers.org/clinvar/206975 ^@ NM_021007.2(SCN2A):c.2696G>A (p.Gly899Asp) http://identifiers.org/clinvar/206973 ^@ NM_021007.2(SCN2A):c.2715G>C (p.Lys905Asn) http://identifiers.org/clinvar/206976 ^@ NM_021007.2(SCN2A):c.2722A>G (p.Lys908Glu) http://identifiers.org/clinvar/207080 ^@ NM_021007.2(SCN2A):c.2809C>T (p.Arg937Cys) http://identifiers.org/clinvar/206978 ^@ NM_021007.2(SCN2A):c.2960G>T (p.Ser987Ile) http://identifiers.org/clinvar/206979 ^@ NM_021007.2(SCN2A):c.2962T>C (p.Ser988Pro) http://identifiers.org/clinvar/206981 ^@ NM_021007.2(SCN2A):c.2995G>A (p.Glu999Lys) http://identifiers.org/clinvar/206982 ^@ NM_021007.2(SCN2A):c.3190G>T (p.Asp1064Tyr) http://identifiers.org/clinvar/206984 ^@ NM_021007.2(SCN2A):c.3259G>A (p.Val1087Met) http://identifiers.org/clinvar/206985 ^@ NM_021007.2(SCN2A):c.3372C>T (p.Ser1124=) http://identifiers.org/clinvar/207075 ^@ NM_021007.2(SCN2A):c.3401delA (p.Lys1134Serfs) http://identifiers.org/clinvar/206986 ^@ NM_021007.2(SCN2A):c.3434C>T (p.Thr1145Met) http://identifiers.org/clinvar/206953 ^@ NM_021007.2(SCN2A):c.3456C>T (p.Ala1152=) http://identifiers.org/clinvar/206987 ^@ NM_021007.2(SCN2A):c.3457G>A (p.Glu1153Lys) http://identifiers.org/clinvar/206988 ^@ NM_021007.2(SCN2A):c.3485A>T (p.Glu1162Val) http://identifiers.org/clinvar/207083 ^@ NM_021007.2(SCN2A):c.3586A>G (p.Asn1196Asp) http://identifiers.org/clinvar/206989 ^@ NM_021007.2(SCN2A):c.3670G>T (p.Ala1224Ser) http://identifiers.org/clinvar/206990 ^@ NM_021007.2(SCN2A):c.3944G>A (p.Arg1315Lys) http://identifiers.org/clinvar/206991 ^@ NM_021007.2(SCN2A):c.3947C>T (p.Ala1316Val) http://identifiers.org/clinvar/206992 ^@ NM_021007.2(SCN2A):c.3971G>A (p.Arg1324Lys) http://identifiers.org/clinvar/206993 ^@ NM_021007.2(SCN2A):c.3977T>A (p.Val1326Asp) http://identifiers.org/clinvar/206994 ^@ NM_021007.2(SCN2A):c.3997G>A (p.Ala1333Thr) http://identifiers.org/clinvar/206995 ^@ NM_021007.2(SCN2A):c.4013T>G (p.Met1338Arg) http://identifiers.org/clinvar/206996 ^@ NM_021007.2(SCN2A):c.4025T>C (p.Leu1342Pro) http://identifiers.org/clinvar/206997 ^@ NM_021007.2(SCN2A):c.4036A>G (p.Ile1346Val) http://identifiers.org/clinvar/206998 ^@ NM_021007.2(SCN2A):c.4059C>G (p.Ile1353Met) http://identifiers.org/clinvar/206999 ^@ NM_021007.2(SCN2A):c.4264A>G (p.Lys1422Glu) http://identifiers.org/clinvar/207000 ^@ NM_021007.2(SCN2A):c.4303C>G (p.Arg1435Gly) http://identifiers.org/clinvar/207003 ^@ NM_021007.2(SCN2A):c.4321C>T (p.Pro1441Ser) http://identifiers.org/clinvar/207004 ^@ NM_021007.2(SCN2A):c.4369A>G (p.Ile1457Val) http://identifiers.org/clinvar/207076 ^@ NM_021007.2(SCN2A):c.4372_4374delATT (p.Ile1458del) http://identifiers.org/clinvar/207005 ^@ NM_021007.2(SCN2A):c.4394T>G (p.Leu1465Trp) http://identifiers.org/clinvar/207002 ^@ NM_021007.2(SCN2A):c.4446+9A>G http://identifiers.org/clinvar/207006 ^@ NM_021007.2(SCN2A):c.4463T>A (p.Ile1488Asn) http://identifiers.org/clinvar/207077 ^@ NM_021007.2(SCN2A):c.4477_4479delGAA (p.Glu1493del) http://identifiers.org/clinvar/207078 ^@ NM_001040142.1(SCN2A):c.4610_4614delTCATGinsGCATC (p.Ile1537_Met1538delinsSerIle) http://identifiers.org/clinvar/207009 ^@ NM_021007.2(SCN2A):c.4612A>G (p.Met1538Val) http://identifiers.org/clinvar/207011 ^@ NM_021007.2(SCN2A):c.4630A>G (p.Asn1544Asp) http://identifiers.org/clinvar/207012 ^@ NM_021007.2(SCN2A):c.4633A>G (p.Met1545Val) http://identifiers.org/clinvar/207084 ^@ NM_021007.2(SCN2A):c.4661A>G (p.Asp1554Gly) http://identifiers.org/clinvar/207013 ^@ NM_021007.2(SCN2A):c.4701T>A (p.Asn1567Lys) http://identifiers.org/clinvar/207014 ^@ NM_021007.2(SCN2A):c.4718T>C (p.Leu1573Pro) http://identifiers.org/clinvar/207016 ^@ NM_021007.2(SCN2A):c.4822G>A (p.Gly1608Arg) http://identifiers.org/clinvar/207017 ^@ NM_021007.2(SCN2A):c.4877G>A (p.Arg1626Gln) http://identifiers.org/clinvar/207018 ^@ NM_021007.2(SCN2A):c.4879G>A (p.Val1627Met) http://identifiers.org/clinvar/207019 ^@ NM_021007.2(SCN2A):c.4886G>A (p.Arg1629His) http://identifiers.org/clinvar/207020 ^@ NM_021007.2(SCN2A):c.4895G>A (p.Arg1632Lys) http://identifiers.org/clinvar/207022 ^@ NM_021007.2(SCN2A):c.4908C>G (p.Ile1636Met) http://identifiers.org/clinvar/206954 ^@ NM_021007.2(SCN2A):c.4915C>T (p.Leu1639=) http://identifiers.org/clinvar/207023 ^@ NM_021007.2(SCN2A):c.5065G>C (p.Val1689Leu) http://identifiers.org/clinvar/206955 ^@ NM_021007.2(SCN2A):c.5119C>T (p.Leu1707=) http://identifiers.org/clinvar/207024 ^@ NM_021007.2(SCN2A):c.5317G>A (p.Ala1773Thr) http://identifiers.org/clinvar/207026 ^@ NM_021007.2(SCN2A):c.5434T>A (p.Phe1812Ile) http://identifiers.org/clinvar/206956 ^@ NM_021007.2(SCN2A):c.5446G>T (p.Ala1816Ser) http://identifiers.org/clinvar/207085 ^@ NM_021007.2(SCN2A):c.5514G>C (p.Gln1838His) http://identifiers.org/clinvar/207028 ^@ NM_021007.2(SCN2A):c.5644C>G (p.Arg1882Gly) http://identifiers.org/clinvar/207029 ^@ NM_021007.2(SCN2A):c.5645G>T (p.Arg1882Leu) http://identifiers.org/clinvar/207030 ^@ NM_021007.2(SCN2A):c.5819G>T (p.Cys1940Phe) http://identifiers.org/clinvar/206957 ^@ NM_021007.2(SCN2A):c.5931T>C (p.Ser1977=) http://identifiers.org/clinvar/206958 ^@ NM_021007.2(SCN2A):c.*9C>A http://identifiers.org/clinvar/206733 ^@ NM_001165963.1(SCN1A):c.*20A>G http://identifiers.org/clinvar/206887 ^@ NM_001165963.1(SCN1A):c.5977A>G (p.Ile1993Val) http://identifiers.org/clinvar/206885 ^@ NM_001165963.1(SCN1A):c.5912A>G (p.Glu1971Gly) http://identifiers.org/clinvar/206732 ^@ NM_001165963.1(SCN1A):c.5865A>G (p.Ile1955Met) http://identifiers.org/clinvar/206883 ^@ NM_001165963.1(SCN1A):c.5822C>T (p.Thr1941Met) http://identifiers.org/clinvar/206882 ^@ NM_001165963.1(SCN1A):c.5806A>G (p.Lys1936Glu) http://identifiers.org/clinvar/206926 ^@ NM_001165963.1(SCN1A):c.5770_5790del21 (p.Arg1924_Leu1930del) http://identifiers.org/clinvar/206881 ^@ NM_001165963.1(SCN1A):c.5771G>A (p.Arg1924His) http://identifiers.org/clinvar/206949 ^@ NM_001165963.1(SCN1A):c.5755G>C (p.Ala1919Pro) http://identifiers.org/clinvar/206880 ^@ NM_001165963.1(SCN1A):c.5753C>T (p.Ser1918Phe) http://identifiers.org/clinvar/206878 ^@ NM_001165963.1(SCN1A):c.5746G>T (p.Glu1916Ter) http://identifiers.org/clinvar/206925 ^@ NM_001165963.1(SCN1A):c.5746delG (p.Glu1916Lysfs) http://identifiers.org/clinvar/206877 ^@ NM_001165963.1(SCN1A):c.5743G>A (p.Glu1915Lys) http://identifiers.org/clinvar/206924 ^@ NM_001165963.1(SCN1A):c.5708_5711dupATCA (p.Pro1905Serfs) http://identifiers.org/clinvar/206948 ^@ NM_001165963.1(SCN1A):c.5710C>T (p.Gln1904Ter) http://identifiers.org/clinvar/206876 ^@ NM_001165963.1(SCN1A):c.5681T>C (p.Met1894Thr) http://identifiers.org/clinvar/206875 ^@ NM_001165963.1(SCN1A):c.5639G>A (p.Gly1880Glu) http://identifiers.org/clinvar/206874 ^@ NM_001165963.1(SCN1A):c.5627T>C (p.Leu1876Pro) http://identifiers.org/clinvar/206873 ^@ NM_001165963.1(SCN1A):c.5620C>T (p.Arg1874Trp) http://identifiers.org/clinvar/206871 ^@ NM_001165963.1(SCN1A):c.5568G>A (p.Met1856Ile) http://identifiers.org/clinvar/206870 ^@ NM_001165963.1(SCN1A):c.5567T>C (p.Met1856Thr) http://identifiers.org/clinvar/206869 ^@ NM_001165963.1(SCN1A):c.5567T>A (p.Met1856Lys) http://identifiers.org/clinvar/206868 ^@ NM_001165963.1(SCN1A):c.5510C>T (p.Pro1837Leu) http://identifiers.org/clinvar/206867 ^@ NM_001165963.1(SCN1A):c.5501C>T (p.Ala1834Val) http://identifiers.org/clinvar/206866 ^@ NM_001165963.1(SCN1A):c.5435G>A (p.Trp1812Ter) http://identifiers.org/clinvar/206865 ^@ NM_001165963.1(SCN1A):c.5416G>T (p.Glu1806Ter) http://identifiers.org/clinvar/206864 ^@ NM_001165963.1(SCN1A):c.5361G>T (p.Glu1787Asp) http://identifiers.org/clinvar/206731 ^@ NM_001165963.1(SCN1A):c.5346C>T (p.Ile1782=) http://identifiers.org/clinvar/206946 ^@ NM_001165963.1(SCN1A):c.5326G>A (p.Val1776Ile) http://identifiers.org/clinvar/206863 ^@ NM_001165963.1(SCN1A):c.5291T>A (p.Phe1764Tyr) http://identifiers.org/clinvar/206923 ^@ NM_001165963.1(SCN1A):c.5273_5277delACCCA (p.Asn1758Ilefs) http://identifiers.org/clinvar/206862 ^@ NM_001165963.1(SCN1A):c.5261G>T (p.Gly1754Val) http://identifiers.org/clinvar/206861 ^@ NM_001165963.1(SCN1A):c.5218G>A (p.Asp1740Asn) http://identifiers.org/clinvar/206945 ^@ NM_001165963.1(SCN1A):c.5189T>C (p.Leu1730Pro) http://identifiers.org/clinvar/206944 ^@ NM_001165963.1(SCN1A):c.5168C>T (p.Ser1723Phe) http://identifiers.org/clinvar/206859 ^@ NM_001165963.1(SCN1A):c.5162C>A (p.Thr1721Lys) http://identifiers.org/clinvar/206943 ^@ NM_001165963.1(SCN1A):c.5131G>A (p.Gly1711Ser) http://identifiers.org/clinvar/206858 ^@ NM_001165963.1(SCN1A):c.5121T>A (p.Phe1707Leu) http://identifiers.org/clinvar/206857 ^@ NM_001165963.1(SCN1A):c.5104G>T (p.Asp1702Tyr) http://identifiers.org/clinvar/206856 ^@ NM_001165963.1(SCN1A):c.4999C>T (p.Leu1667Phe) http://identifiers.org/clinvar/206855 ^@ NM_001165963.1(SCN1A):c.4995G>A (p.Met1665Ile) http://identifiers.org/clinvar/206854 ^@ NM_001165963.1(SCN1A):c.4943G>T (p.Arg1648Leu) http://identifiers.org/clinvar/206853 ^@ NM_001165963.1(SCN1A):c.4931G>A (p.Gly1644Asp) http://identifiers.org/clinvar/206852 ^@ NM_001165963.1(SCN1A):c.4916G>C (p.Arg1639Pro) http://identifiers.org/clinvar/206922 ^@ NM_001165963.1(SCN1A):c.4896dupT (p.Thr1633Tyrfs) http://identifiers.org/clinvar/206851 ^@ NM_001165963.1(SCN1A):c.4855A>G (p.Met1619Val) http://identifiers.org/clinvar/206921 ^@ NM_001165963.1(SCN1A):c.4821delT (p.Phe1607Leufs) http://identifiers.org/clinvar/206847 ^@ NM_001165963.1(SCN1A):c.4794T>G (p.Tyr1598Ter) http://identifiers.org/clinvar/206850 ^@ NM_001165963.1(SCN1A):c.4793A>T (p.Tyr1598Phe) http://identifiers.org/clinvar/206918 ^@ NM_001165963.1(SCN1A):c.4777_4778delAT (p.Ile1593Leufs) http://identifiers.org/clinvar/206848 ^@ NM_001165963.1(SCN1A):c.4765G>T (p.Val1589Leu) http://identifiers.org/clinvar/206846 ^@ NM_001165963.1(SCN1A):c.4744G>C (p.Val1582Leu) http://identifiers.org/clinvar/206845 ^@ NM_001165963.1(SCN1A):c.4724G>A (p.Arg1575His) http://identifiers.org/clinvar/206844 ^@ NM_001165963.1(SCN1A):c.4701A>G (p.Glu1567=) http://identifiers.org/clinvar/206843 ^@ NM_001165963.1(SCN1A):c.4681G>T (p.Glu1561Ter) http://identifiers.org/clinvar/206842 ^@ NM_001165963.1(SCN1A):c.4674G>A (p.Met1558Ile) http://identifiers.org/clinvar/206841 ^@ NM_001165963.1(SCN1A):c.4577C>G (p.Pro1526Arg) http://identifiers.org/clinvar/206840 ^@ NM_001165963.1(SCN1A):c.4570C>A (p.Pro1524Thr) http://identifiers.org/clinvar/206839 ^@ NM_001165963.1(SCN1A):c.4556C>T (p.Pro1519Leu) http://identifiers.org/clinvar/206838 ^@ NM_001165963.1(SCN1A):c.4555C>A (p.Pro1519Thr) http://identifiers.org/clinvar/206920 ^@ NM_001165963.1(SCN1A):c.4554dupA (p.Pro1519Thrfs) http://identifiers.org/clinvar/206919 ^@ NM_001165963.1(SCN1A):c.4548delG (p.Lys1518Asnfs) http://identifiers.org/clinvar/206837 ^@ NM_001165963.1(SCN1A):c.4547C>A (p.Ser1516Ter) http://identifiers.org/clinvar/206836 ^@ NM_001165963.1(SCN1A):c.4543G>A (p.Gly1515Arg) http://identifiers.org/clinvar/206834 ^@ NM_001165963.1(SCN1A):c.4511A>T (p.Gln1504Leu) http://identifiers.org/clinvar/206832 ^@ NM_001165963.1(SCN1A):c.4476+1A>T http://identifiers.org/clinvar/206829 ^@ NM_001165963.1(SCN1A):c.4476+1A>G http://identifiers.org/clinvar/206830 ^@ NM_001165963.1(SCN1A):c.4438G>T (p.Gly1480Cys) http://identifiers.org/clinvar/206828 ^@ NM_001165963.1(SCN1A):c.4369C>G (p.Leu1457Val) http://identifiers.org/clinvar/206826 ^@ NM_001165963.1(SCN1A):c.4345C>T (p.Leu1449Phe) http://identifiers.org/clinvar/206825 ^@ NM_001165963.1(SCN1A):c.4338+5G>A http://identifiers.org/clinvar/206917 ^@ NM_001165963.1(SCN1A):c.4318delG (p.Ala1440Glnfs) http://identifiers.org/clinvar/206730 ^@ NM_001165963.1(SCN1A):c.4317T>C (p.Tyr1439=) http://identifiers.org/clinvar/206814 ^@ NM_001165963.1(SCN1A):c.4297G>C (p.Gly1433Arg) http://identifiers.org/clinvar/206822 ^@ NM_001165963.1(SCN1A):c.4285G>A (p.Ala1429Thr) http://identifiers.org/clinvar/206821 ^@ NM_001165963.1(SCN1A):c.4285-4A>G http://identifiers.org/clinvar/206916 ^@ NM_001165963.1(SCN1A):c.4216dupG (p.Ala1406Glyfs) http://identifiers.org/clinvar/206915 ^@ NM_001165963.1(SCN1A):c.4166delA (p.Asp1389Alafs) http://identifiers.org/clinvar/206820 ^@ NM_001165963.1(SCN1A):c.4162G>A (p.Glu1388Lys) http://identifiers.org/clinvar/206819 ^@ NM_001165963.1(SCN1A):c.4027G>C (p.Ala1343Pro) http://identifiers.org/clinvar/206818 ^@ NM_001165963.1(SCN1A):c.4016C>A (p.Ala1339Asp) http://identifiers.org/clinvar/206817 ^@ NM_001165963.1(SCN1A):c.4006G>A (p.Val1336Ile) http://identifiers.org/clinvar/206816 ^@ NM_001165963.1(SCN1A):c.3985C>T (p.Arg1329Ter) http://identifiers.org/clinvar/206952 ^@ NM_001165963.1(SCN1A):c.3966_3976delACCTCTAAGAG (p.Arg1322Serfs) http://identifiers.org/clinvar/206812 ^@ NM_001165963.1(SCN1A):c.3899C>T (p.Thr1300Ile) http://identifiers.org/clinvar/206809 ^@ NM_001165963.1(SCN1A):c.3879+5G>A http://identifiers.org/clinvar/206912 ^@ NM_001165963.1(SCN1A):c.3853dupT (p.Cys1285Leufs) http://identifiers.org/clinvar/206811 ^@ NM_001165963.1(SCN1A):c.3850T>C (p.Trp1284Arg) http://identifiers.org/clinvar/206810 ^@ NM_001165963.1(SCN1A):c.3824G>A (p.Gly1275Asp) http://identifiers.org/clinvar/206911 ^@ NM_001165963.1(SCN1A):c.3776dupT (p.Thr1260Hisfs) http://identifiers.org/clinvar/206808 ^@ NM_001165963.1(SCN1A):c.3772G>A (p.Val1258Ile) http://identifiers.org/clinvar/206807 ^@ NM_001165963.1(SCN1A):c.3749C>T (p.Thr1250Met) http://identifiers.org/clinvar/206910 ^@ NM_001165963.1(SCN1A):c.3724_3725dupAT (p.Asp1243Leufs) http://identifiers.org/clinvar/206729 ^@ NM_001165963.1(SCN1A):c.3705+12T>G http://identifiers.org/clinvar/206728 ^@ NM_001165963.1(SCN1A):c.3705+10delA http://identifiers.org/clinvar/206806 ^@ NM_001165963.1(SCN1A):c.3683T>G (p.Ile1228Ser) http://identifiers.org/clinvar/206805 ^@ NM_001165963.1(SCN1A):c.3650A>G (p.His1217Arg) http://identifiers.org/clinvar/206803 ^@ NM_001165963.1(SCN1A):c.3607C>T (p.Gln1203Ter) http://identifiers.org/clinvar/206804 ^@ NM_001165963.1(SCN1A):c.3556G>T (p.Val1186Leu) http://identifiers.org/clinvar/206906 ^@ NM_001165963.1(SCN1A):c.3553delT (p.Cys1185Valfs) http://identifiers.org/clinvar/206799 ^@ NM_001165963.1(SCN1A):c.3429G>A (p.Glu1143=) http://identifiers.org/clinvar/206909 ^@ NM_001165963.1(SCN1A):c.3409delG (p.Asp1137Ilefs) http://identifiers.org/clinvar/206736 ^@ NM_001165963.1(SCN1A):c.3405A>G (p.Glu1135=) http://identifiers.org/clinvar/206798 ^@ NM_001165963.1(SCN1A):c.3361G>T (p.Glu1121Ter) http://identifiers.org/clinvar/206908 ^@ NM_001165963.1(SCN1A):c.3268dupA (p.Ser1090Lysfs) http://identifiers.org/clinvar/206797 ^@ NM_001165963.1(SCN1A):c.3220G>A (p.Asp1074Asn) http://identifiers.org/clinvar/206907 ^@ NM_001165963.1(SCN1A):c.3168_3170delCAA (p.Asn1056del) http://identifiers.org/clinvar/206796 ^@ NM_001165963.1(SCN1A):c.3098T>C (p.Phe1033Ser) http://identifiers.org/clinvar/206939 ^@ NM_001165963.1(SCN1A):c.3044C>T (p.Ala1015Val) http://identifiers.org/clinvar/206795 ^@ NM_001165963.1(SCN1A):c.2994C>A (p.Asp998Glu) http://identifiers.org/clinvar/206905 ^@ NM_001165963.1(SCN1A):c.2994delC (p.Asp998Glufs) http://identifiers.org/clinvar/206794 ^@ NM_001165963.1(SCN1A):c.2966C>T (p.Ala989Val) http://identifiers.org/clinvar/206793 ^@ NM_001165963.1(SCN1A):c.2939A>G (p.Asn980Ser) http://identifiers.org/clinvar/206791 ^@ NM_001165963.1(SCN1A):c.2877T>A (p.Cys959Ter) http://identifiers.org/clinvar/206788 ^@ NM_001165963.1(SCN1A):c.2839G>A (p.Val947Met) http://identifiers.org/clinvar/206790 ^@ NM_001165963.1(SCN1A):c.2806G>T (p.Asp936Tyr) http://identifiers.org/clinvar/206787 ^@ NM_001165963.1(SCN1A):c.2782C>T (p.Gln928Ter) http://identifiers.org/clinvar/206734 ^@ NM_001165963.1(SCN1A):c.2770G>A (p.Ala924Thr) http://identifiers.org/clinvar/206786 ^@ NM_001165963.1(SCN1A):c.2722G>C (p.Gly908Arg) http://identifiers.org/clinvar/206785 ^@ NM_001165963.1(SCN1A):c.2681C>G (p.Thr894Ser) http://identifiers.org/clinvar/206784 ^@ NM_001165963.1(SCN1A):c.2569G>A (p.Val857Ile) http://identifiers.org/clinvar/206903 ^@ NM_001165963.1(SCN1A):c.2569delG (p.Val857Phefs) http://identifiers.org/clinvar/206783 ^@ NM_001165963.1(SCN1A):c.2552A>G (p.Asn851Ser) http://identifiers.org/clinvar/206782 ^@ NM_001165963.1(SCN1A):c.2504T>C (p.Phe835Ser) http://identifiers.org/clinvar/206781 ^@ NM_001165963.1(SCN1A):c.2378C>T (p.Thr793Met) http://identifiers.org/clinvar/206938 ^@ NM_001165963.1(SCN1A):c.2354T>C (p.Met785Thr) http://identifiers.org/clinvar/206904 ^@ NM_001165963.1(SCN1A):c.2339_2340insTAT (p.Leu780delinsPheIle) http://identifiers.org/clinvar/206937 ^@ NM_001165963.1(SCN1A):c.2177-1G>T http://identifiers.org/clinvar/206936 ^@ NM_001165963.1(SCN1A):c.2078G>T (p.Arg693Met) http://identifiers.org/clinvar/206778 ^@ NM_001165963.1(SCN1A):c.2035G>A (p.Asp679Asn) http://identifiers.org/clinvar/206777 ^@ NM_001165963.1(SCN1A):c.1882T>A (p.Ser628Thr) http://identifiers.org/clinvar/206902 ^@ NM_001165963.1(SCN1A):c.1852delC (p.Arg618Alafs) http://identifiers.org/clinvar/206901 ^@ NM_001165963.1(SCN1A):c.1850_1851delGAinsAT (p.Arg617Asn) http://identifiers.org/clinvar/206900 ^@ NM_001165963.1(SCN1A):c.1819delT (p.Ser607Profs) http://identifiers.org/clinvar/206776 ^@ NM_001165963.1(SCN1A):c.1814G>C (p.Arg605Thr) http://identifiers.org/clinvar/206775 ^@ NM_001165963.1(SCN1A):c.1810C>T (p.Arg604Cys) http://identifiers.org/clinvar/206774 ^@ NM_001165963.1(SCN1A):c.1790C>A (p.Thr597Asn) http://identifiers.org/clinvar/206899 ^@ NM_001165963.1(SCN1A):c.1787_1789delGCA (p.Ser596del) http://identifiers.org/clinvar/206898 ^@ NM_001165963.1(SCN1A):c.1739_1742dupGAGC (p.Lys582Serfs) http://identifiers.org/clinvar/206772 ^@ NM_001165963.1(SCN1A):c.1706A>G (p.Asn569Ser) http://identifiers.org/clinvar/206771 ^@ NM_001165963.1(SCN1A):c.1662G>A (p.Gln554=) http://identifiers.org/clinvar/206770 ^@ NM_001165963.1(SCN1A):c.1604G>A (p.Arg535His) http://identifiers.org/clinvar/206769 ^@ NM_001165963.1(SCN1A):c.1582A>T (p.Ser528Cys) http://identifiers.org/clinvar/206897 ^@ NM_001165963.1(SCN1A):c.1537dupG (p.Glu513Glyfs) http://identifiers.org/clinvar/206896 ^@ NM_001165963.1(SCN1A):c.1518_1522delGAAAG (p.Lys507Alafs) http://identifiers.org/clinvar/206768 ^@ NM_001165963.1(SCN1A):c.1499G>A (p.Arg500Gln) http://identifiers.org/clinvar/206767 ^@ NM_001165963.1(SCN1A):c.1485G>T (p.Lys495Asn) http://identifiers.org/clinvar/206895 ^@ NM_001165963.1(SCN1A):c.1430delG (p.Gly477Alafs) http://identifiers.org/clinvar/206727 ^@ NM_001165963.1(SCN1A):c.1378-6A>G http://identifiers.org/clinvar/206766 ^@ NM_001165963.1(SCN1A):c.1348C>T (p.Gln450Ter) http://identifiers.org/clinvar/206765 ^@ NM_001165963.1(SCN1A):c.1339A>G (p.Met447Val) http://identifiers.org/clinvar/206761 ^@ NM_001165963.1(SCN1A):c.1277A>G (p.Tyr426Cys) http://identifiers.org/clinvar/206764 ^@ NM_001165963.1(SCN1A):c.1262T>C (p.Val421Ala) http://identifiers.org/clinvar/206894 ^@ NM_001165963.1(SCN1A):c.1247_1248insGTAGA (p.Asn416Lysfs) http://identifiers.org/clinvar/206935 ^@ NM_001165963.1(SCN1A):c.1204T>C (p.Phe402Leu) http://identifiers.org/clinvar/206763 ^@ NM_001165963.1(SCN1A):c.1195T>G (p.Tyr399Asp) http://identifiers.org/clinvar/206762 ^@ NM_001165963.1(SCN1A):c.1193C>T (p.Thr398Met) http://identifiers.org/clinvar/206893 ^@ NM_001165963.1(SCN1A):c.1192delA (p.Thr398Argfs) http://identifiers.org/clinvar/206879 ^@ NM_001165963.1(SCN1A):c.1139delC (p.Thr380Ilefs) http://identifiers.org/clinvar/206759 ^@ NM_001165963.1(SCN1A):c.1112C>T (p.Ala371Val) http://identifiers.org/clinvar/206757 ^@ NM_001165963.1(SCN1A):c.1076A>T (p.Asn359Ile) http://identifiers.org/clinvar/206725 ^@ NM_001165963.1(SCN1A):c.1065T>C (p.Gly355=) http://identifiers.org/clinvar/206951 ^@ NM_001165963.1(SCN1A):c.1053dupT (p.Val352Cysfs) http://identifiers.org/clinvar/206934 ^@ NM_001165963.1(SCN1A):c.1000C>G (p.Leu334Val) http://identifiers.org/clinvar/206756 ^@ NM_001165963.1(SCN1A):c.995A>G (p.Asp332Gly) http://identifiers.org/clinvar/206755 ^@ NM_001165963.1(SCN1A):c.986G>T (p.Gly329Val) http://identifiers.org/clinvar/206933 ^@ NM_001165963.1(SCN1A):c.985G>T (p.Gly329Cys) http://identifiers.org/clinvar/206754 ^@ NM_001165963.1(SCN1A):c.984G>C (p.Glu328Asp) http://identifiers.org/clinvar/206932 ^@ NM_001165963.1(SCN1A):c.971A>G (p.His324Arg) http://identifiers.org/clinvar/206751 ^@ NM_001165963.1(SCN1A):c.964+5G>A http://identifiers.org/clinvar/206753 ^@ NM_001165963.1(SCN1A):c.959A>T (p.Asp320Val) http://identifiers.org/clinvar/206950 ^@ NM_001165963.1(SCN1A):c.942delG (p.Trp314Terfs) http://identifiers.org/clinvar/206752 ^@ NM_001165963.1(SCN1A):c.862G>C (p.Glu288Gln) http://identifiers.org/clinvar/206750 ^@ NM_001165963.1(SCN1A):c.842C>T (p.Pro281Leu) http://identifiers.org/clinvar/206749 ^@ NM_001165963.1(SCN1A):c.827A>T (p.Lys276Ile) http://identifiers.org/clinvar/206748 ^@ NM_001165963.1(SCN1A):c.791T>C (p.Ile264Thr) http://identifiers.org/clinvar/206746 ^@ NM_001165963.1(SCN1A):c.748G>A (p.Val250Ile) http://identifiers.org/clinvar/206931 ^@ NM_001165963.1(SCN1A):c.739C>G (p.Leu247Val) http://identifiers.org/clinvar/206930 ^@ NM_001165963.1(SCN1A):c.677C>G (p.Thr226Arg) http://identifiers.org/clinvar/206929 ^@ NM_001165963.1(SCN1A):c.671T>C (p.Leu224Ser) http://identifiers.org/clinvar/206745 ^@ NM_001165963.1(SCN1A):c.662T>C (p.Leu221Pro) http://identifiers.org/clinvar/206744 ^@ NM_001165963.1(SCN1A):c.656G>C (p.Arg219Thr) http://identifiers.org/clinvar/206743 ^@ NM_001165963.1(SCN1A):c.603-1G>A http://identifiers.org/clinvar/206892 ^@ NM_001165963.1(SCN1A):c.602+2dupT http://identifiers.org/clinvar/206742 ^@ NM_001165963.1(SCN1A):c.602+1G>C http://identifiers.org/clinvar/206740 ^@ NM_001165963.1(SCN1A):c.505T>C (p.Ser169Pro) http://identifiers.org/clinvar/206891 ^@ NM_001165963.1(SCN1A):c.476delA (p.Tyr159Serfs) http://identifiers.org/clinvar/206928 ^@ NM_001165963.1(SCN1A):c.472G>C (p.Glu158Gln) http://identifiers.org/clinvar/206739 ^@ NM_001165963.1(SCN1A):c.434T>A (p.Met145Lys) http://identifiers.org/clinvar/206738 ^@ NM_001165963.1(SCN1A):c.418A>G (p.Thr140Ala) http://identifiers.org/clinvar/206890 ^@ NM_001165963.1(SCN1A):c.368delA (p.Lys123Argfs) http://identifiers.org/clinvar/206927 ^@ NM_001165963.1(SCN1A):c.314C>T (p.Thr105Ile) http://identifiers.org/clinvar/206889 ^@ NM_001165963.1(SCN1A):c.305dupT (p.Ser103Glnfs) http://identifiers.org/clinvar/206888 ^@ NM_001165963.1(SCN1A):c.292delG (p.Ala98Profs) http://identifiers.org/clinvar/206735 ^@ NM_001165963.1(SCN1A):c.265-1G>A http://identifiers.org/clinvar/206831 ^@ NM_001165963.1(SCN1A):c.243C>G (p.Asp81Glu) http://identifiers.org/clinvar/206942 ^@ NM_001165963.1(SCN1A):c.203T>G (p.Ile68Ser) http://identifiers.org/clinvar/206914 ^@ NM_001165963.1(SCN1A):c.141delT (p.Asn47Lysfs) http://identifiers.org/clinvar/206913 ^@ NM_001165963.1(SCN1A):c.140delA (p.Asn47Metfs) http://identifiers.org/clinvar/206802 ^@ NM_001165963.1(SCN1A):c.82C>T (p.Arg28Cys) http://identifiers.org/clinvar/206801 ^@ NM_001165963.1(SCN1A):c.68C>T (p.Ala23Val) http://identifiers.org/clinvar/206800 ^@ NM_001165963.1(SCN1A):c.68C>A (p.Ala23Glu) http://identifiers.org/clinvar/206940 ^@ NM_001165963.1(SCN1A):c.55A>G (p.Arg19Gly) http://identifiers.org/clinvar/206198 ^@ NM_001135659.2(NRXN1):c.*18G>C http://identifiers.org/clinvar/206270 ^@ NM_001135659.2(NRXN1):c.4614_4616delGAA (p.Lys1539del) http://identifiers.org/clinvar/206197 ^@ NM_001135659.2(NRXN1):c.4458T>C (p.Leu1486=) http://identifiers.org/clinvar/206213 ^@ NM_001135659.2(NRXN1):c.4394G>A (p.Arg1465Gln) http://identifiers.org/clinvar/206273 ^@ NM_001135659.2(NRXN1):c.4357G>A (p.Gly1453Ser) http://identifiers.org/clinvar/206212 ^@ NM_001135659.2(NRXN1):c.4322G>A (p.Ser1441Asn) http://identifiers.org/clinvar/206282 ^@ NM_001135659.2(NRXN1):c.4131G>C (p.Glu1377Asp) http://identifiers.org/clinvar/206281 ^@ NM_001135659.2(NRXN1):c.4124C>T (p.Thr1375Ile) http://identifiers.org/clinvar/206268 ^@ NM_001135659.2(NRXN1):c.4025A>G (p.Tyr1342Cys) http://identifiers.org/clinvar/206263 ^@ NM_001135659.2(NRXN1):c.3715G>A (p.Ala1239Thr) http://identifiers.org/clinvar/206267 ^@ NM_001135659.2(NRXN1):c.3662A>G (p.His1221Arg) http://identifiers.org/clinvar/206266 ^@ NM_001135659.2(NRXN1):c.3599A>G (p.Gln1200Arg) http://identifiers.org/clinvar/206210 ^@ NM_001135659.2(NRXN1):c.3485-109703A>T http://identifiers.org/clinvar/206264 ^@ NM_001135659.2(NRXN1):c.3485-109939C>T http://identifiers.org/clinvar/206209 ^@ NM_001135659.2(NRXN1):c.3485-109992C>T http://identifiers.org/clinvar/206260 ^@ NM_001135659.2(NRXN1):c.3401A>G (p.Asn1134Ser) http://identifiers.org/clinvar/206259 ^@ NM_001135659.2(NRXN1):c.3374C>T (p.Thr1125Ile) http://identifiers.org/clinvar/206208 ^@ NM_001135659.2(NRXN1):c.3321C>T (p.Ser1107=) http://identifiers.org/clinvar/206207 ^@ NM_001135659.2(NRXN1):c.3210A>C (p.Gly1070=) http://identifiers.org/clinvar/206255 ^@ NM_001135659.2(NRXN1):c.3152C>T (p.Thr1051Met) http://identifiers.org/clinvar/206254 ^@ NM_001135659.2(NRXN1):c.3099A>G (p.Ile1033Met) http://identifiers.org/clinvar/206272 ^@ NM_001135659.2(NRXN1):c.3008delA (p.His1003Leufs) http://identifiers.org/clinvar/206253 ^@ NM_001135659.2(NRXN1):c.2935G>A (p.Asp979Asn) http://identifiers.org/clinvar/206252 ^@ NM_001135659.2(NRXN1):c.2905C>A (p.Leu969Ile) http://identifiers.org/clinvar/206206 ^@ NM_001135659.2(NRXN1):c.2892C>T (p.Tyr964=) http://identifiers.org/clinvar/206251 ^@ NM_001135659.2(NRXN1):c.2779G>A (p.Asp927Asn) http://identifiers.org/clinvar/206250 ^@ NM_001135659.2(NRXN1):c.2717T>C (p.Ile906Thr) http://identifiers.org/clinvar/206249 ^@ NM_001135659.2(NRXN1):c.2690A>G (p.Tyr897Cys) http://identifiers.org/clinvar/206248 ^@ NM_001135659.2(NRXN1):c.2686C>T (p.Arg896Trp) http://identifiers.org/clinvar/206245 ^@ NM_001135659.2(NRXN1):c.2653C>T (p.His885Tyr) http://identifiers.org/clinvar/206280 ^@ NM_001135659.2(NRXN1):c.2652C>G (p.Phe884Leu) http://identifiers.org/clinvar/206243 ^@ NM_001135659.2(NRXN1):c.2617+3A>G http://identifiers.org/clinvar/206242 ^@ NM_001135659.2(NRXN1):c.2579G>A (p.Ser860Asn) http://identifiers.org/clinvar/206278 ^@ NM_001135659.2(NRXN1):c.2542G>A (p.Glu848Lys) http://identifiers.org/clinvar/206241 ^@ NM_001135659.2(NRXN1):c.2495-7T>A http://identifiers.org/clinvar/206205 ^@ NM_001135659.2(NRXN1):c.2495-20C>G http://identifiers.org/clinvar/206234 ^@ NM_001135659.2(NRXN1):c.2437G>A (p.Ala813Thr) http://identifiers.org/clinvar/206204 ^@ NM_001135659.2(NRXN1):c.2394C>A (p.Thr798=) http://identifiers.org/clinvar/206233 ^@ NM_001135659.2(NRXN1):c.2348C>A (p.Ser783Tyr) http://identifiers.org/clinvar/206203 ^@ NM_001135659.2(NRXN1):c.2313C>T (p.Leu771=) http://identifiers.org/clinvar/206232 ^@ NM_001135659.2(NRXN1):c.2310G>T (p.Gln770His) http://identifiers.org/clinvar/206229 ^@ NM_001135659.2(NRXN1):c.2230G>A (p.Gly744Arg) http://identifiers.org/clinvar/206202 ^@ NM_001135659.2(NRXN1):c.2157G>A (p.Pro719=) http://identifiers.org/clinvar/206228 ^@ NM_001135659.2(NRXN1):c.2156C>T (p.Pro719Leu) http://identifiers.org/clinvar/206276 ^@ NM_001135659.2(NRXN1):c.2098G>A (p.Ala700Thr) http://identifiers.org/clinvar/206201 ^@ NM_001135659.2(NRXN1):c.1953T>C (p.Asp651=) http://identifiers.org/clinvar/206225 ^@ NM_001135659.2(NRXN1):c.1942G>A (p.Asp648Asn) http://identifiers.org/clinvar/206224 ^@ NM_001135659.2(NRXN1):c.1918G>T (p.Ala640Ser) http://identifiers.org/clinvar/206223 ^@ NM_001135659.2(NRXN1):c.1898C>T (p.Thr633Met) http://identifiers.org/clinvar/206222 ^@ NM_001135659.2(NRXN1):c.1712A>G (p.Lys571Arg) http://identifiers.org/clinvar/206221 ^@ NM_001135659.2(NRXN1):c.1709C>A (p.Ala570Asp) http://identifiers.org/clinvar/206220 ^@ NM_001135659.2(NRXN1):c.1686C>T (p.Gly562=) http://identifiers.org/clinvar/206275 ^@ NM_001135659.2(NRXN1):c.1661A>G (p.Asn554Ser) http://identifiers.org/clinvar/206218 ^@ NM_001135659.2(NRXN1):c.1564A>T (p.Ile522Phe) http://identifiers.org/clinvar/206271 ^@ NM_001135659.2(NRXN1):c.1520_1521delGAinsTC (p.Gly507Val) http://identifiers.org/clinvar/206274 ^@ NM_001135659.2(NRXN1):c.1412G>A (p.Ser471Asn) http://identifiers.org/clinvar/206215 ^@ NM_001135659.2(NRXN1):c.1322C>T (p.Thr441Met) http://identifiers.org/clinvar/206211 ^@ NM_001135659.2(NRXN1):c.880A>G (p.Asn294Asp) http://identifiers.org/clinvar/206261 ^@ NM_001135659.2(NRXN1):c.780A>T (p.Lys260Asn) http://identifiers.org/clinvar/206246 ^@ NM_001135659.2(NRXN1):c.749T>A (p.Phe250Tyr) http://identifiers.org/clinvar/206257 ^@ NM_001135659.2(NRXN1):c.739C>G (p.Arg247Gly) http://identifiers.org/clinvar/206256 ^@ NM_001135659.2(NRXN1):c.637G>A (p.Gly213Arg) http://identifiers.org/clinvar/206279 ^@ NM_001135659.2(NRXN1):c.587C>T (p.Pro196Leu) http://identifiers.org/clinvar/206244 ^@ NM_001135659.2(NRXN1):c.570C>A (p.Asn190Lys) http://identifiers.org/clinvar/206239 ^@ NM_001135659.2(NRXN1):c.476C>T (p.Pro159Leu) http://identifiers.org/clinvar/206277 ^@ NM_001135659.2(NRXN1):c.407A>G (p.Lys136Arg) http://identifiers.org/clinvar/206238 ^@ NM_001135659.2(NRXN1):c.374A>G (p.Asn125Ser) http://identifiers.org/clinvar/206237 ^@ NM_001135659.2(NRXN1):c.353G>A (p.Arg118His) http://identifiers.org/clinvar/206227 ^@ NM_001135659.2(NRXN1):c.302C>G (p.Ala101Gly) http://identifiers.org/clinvar/206235 ^@ NM_001135659.2(NRXN1):c.262C>G (p.Arg88Gly) http://identifiers.org/clinvar/206231 ^@ NM_001135659.2(NRXN1):c.219G>C (p.Glu73Asp) http://identifiers.org/clinvar/206230 ^@ NM_001135659.2(NRXN1):c.208T>C (p.Phe70Leu) http://identifiers.org/clinvar/206217 ^@ NM_001135659.2(NRXN1):c.32G>A (p.Cys11Tyr) http://identifiers.org/clinvar/206216 ^@ NM_001135659.2(NRXN1):c.23G>T (p.Arg8Leu) http://identifiers.org/clinvar/206200 ^@ NM_001135659.2(NRXN1):c.-21C>A http://identifiers.org/clinvar/206199 ^@ NM_001135659.2(NRXN1):c.-28A>C http://identifiers.org/clinvar/206166 ^@ NM_152778.2(MFSD8):c.1535G>A (p.Arg512Lys) http://identifiers.org/clinvar/206164 ^@ NM_152778.2(MFSD8):c.1408A>G (p.Met470Val) http://identifiers.org/clinvar/206141 ^@ NM_152778.2(MFSD8):c.1350G>A (p.Gln450=) http://identifiers.org/clinvar/206163 ^@ NM_152778.2(MFSD8):c.1262C>T (p.Thr421Ile) http://identifiers.org/clinvar/206162 ^@ NM_152778.2(MFSD8):c.1180G>A (p.Asp394Asn) http://identifiers.org/clinvar/206173 ^@ NM_152778.2(MFSD8):c.1174G>A (p.Glu392Lys) http://identifiers.org/clinvar/206161 ^@ NM_152778.2(MFSD8):c.1136T>C (p.Phe379Ser) http://identifiers.org/clinvar/206160 ^@ NM_152778.2(MFSD8):c.1043G>C (p.Trp348Ser) http://identifiers.org/clinvar/206159 ^@ NM_152778.2(MFSD8):c.998+4A>G http://identifiers.org/clinvar/206158 ^@ NM_152778.2(MFSD8):c.940G>T (p.Ala314Ser) http://identifiers.org/clinvar/206157 ^@ NM_152778.2(MFSD8):c.934A>G (p.Ile312Val) http://identifiers.org/clinvar/206172 ^@ NM_152778.2(MFSD8):c.895G>T (p.Ala299Ser) http://identifiers.org/clinvar/206156 ^@ NM_152778.2(MFSD8):c.863C>T (p.Thr288Ile) http://identifiers.org/clinvar/206155 ^@ NM_152778.2(MFSD8):c.832G>A (p.Val278Met) http://identifiers.org/clinvar/206154 ^@ NM_152778.2(MFSD8):c.706C>T (p.Arg236Cys) http://identifiers.org/clinvar/206153 ^@ NM_152778.2(MFSD8):c.677T>C (p.Ile226Thr) http://identifiers.org/clinvar/206152 ^@ NM_152778.2(MFSD8):c.652G>A (p.Ala218Thr) http://identifiers.org/clinvar/206149 ^@ NM_152778.2(MFSD8):c.599G>A (p.Trp200Ter) http://identifiers.org/clinvar/206151 ^@ NM_152778.2(MFSD8):c.590G>T (p.Gly197Val) http://identifiers.org/clinvar/206150 ^@ NM_152778.2(MFSD8):c.442A>G (p.Asn148Asp) http://identifiers.org/clinvar/206148 ^@ NM_152778.2(MFSD8):c.350C>G (p.Ala117Gly) http://identifiers.org/clinvar/206147 ^@ NM_152778.2(MFSD8):c.343G>A (p.Val115Met) http://identifiers.org/clinvar/206169 ^@ NM_152778.2(MFSD8):c.291G>C (p.Trp97Cys) http://identifiers.org/clinvar/206140 ^@ NM_152778.2(MFSD8):c.277A>G (p.Ile93Val) http://identifiers.org/clinvar/206175 ^@ NM_152778.2(MFSD8):c.217dupA (p.Thr73Asnfs) http://identifiers.org/clinvar/206146 ^@ NM_152778.2(MFSD8):c.211G>A (p.Ala71Thr) http://identifiers.org/clinvar/206143 ^@ NM_152778.2(MFSD8):c.206C>T (p.Pro69Leu) http://identifiers.org/clinvar/206135 ^@ NM_152778.2(MFSD8):c.155-15T>C http://identifiers.org/clinvar/206167 ^@ NM_152778.2(MFSD8):c.115A>T (p.Ile39Phe) http://identifiers.org/clinvar/206145 ^@ NM_152778.2(MFSD8):c.34C>T (p.Pro12Ser) http://identifiers.org/clinvar/206168 ^@ NM_152778.2(MFSD8):c.-21C>T http://identifiers.org/clinvar/206139 ^@ NM_152778.2(MFSD8):c.-58T>A http://identifiers.org/clinvar/206142 ^@ NM_152778.2(MFSD8):c.-75-2A>T http://identifiers.org/clinvar/206043 ^@ NM_006859.3(LIAS):c.89C>T (p.Ser30Phe) http://identifiers.org/clinvar/206044 ^@ NM_006859.3(LIAS):c.122A>G (p.Asn41Ser) http://identifiers.org/clinvar/206046 ^@ NM_006859.3(LIAS):c.217delA (p.Arg73Glyfs) http://identifiers.org/clinvar/206035 ^@ NM_006859.3(LIAS):c.297T>C (p.Asn99=) http://identifiers.org/clinvar/206048 ^@ NM_006859.3(LIAS):c.637A>G (p.Thr213Ala) http://identifiers.org/clinvar/206038 ^@ NM_006859.3(LIAS):c.849C>T (p.Gly283=) http://identifiers.org/clinvar/206039 ^@ NM_006859.3(LIAS):c.850G>A (p.Glu284Lys) http://identifiers.org/clinvar/206040 ^@ NM_006859.3(LIAS):c.872C>T (p.Ala291Val) http://identifiers.org/clinvar/206041 ^@ NM_006859.3(LIAS):c.930G>A (p.Met310Ile) http://identifiers.org/clinvar/206042 ^@ NM_006859.3(LIAS):c.944G>A (p.Arg315His) http://identifiers.org/clinvar/206720 ^@ NM_005506.3(SCARB2):c.1403C>T (p.Thr468Ile) http://identifiers.org/clinvar/206719 ^@ NM_005506.3(SCARB2):c.1385G>A (p.Gly462Glu) http://identifiers.org/clinvar/206723 ^@ NM_005506.3(SCARB2):c.1337delG (p.Gly446Valfs) http://identifiers.org/clinvar/206717 ^@ NM_005506.3(SCARB2):c.1328T>C (p.Met443Thr) http://identifiers.org/clinvar/206705 ^@ NM_005506.3(SCARB2):c.1271G>A (p.Arg424Gln) http://identifiers.org/clinvar/206716 ^@ NM_005506.3(SCARB2):c.1262C>T (p.Thr421Met) http://identifiers.org/clinvar/206704 ^@ NM_005506.3(SCARB2):c.1188-13delT http://identifiers.org/clinvar/206715 ^@ NM_005506.3(SCARB2):c.1010T>C (p.Met337Thr) http://identifiers.org/clinvar/206714 ^@ NM_005506.3(SCARB2):c.920A>C (p.Asp307Ala) http://identifiers.org/clinvar/206713 ^@ NM_005506.3(SCARB2):c.880C>T (p.Arg294Trp) http://identifiers.org/clinvar/206712 ^@ NM_005506.3(SCARB2):c.746A>G (p.Asn249Ser) http://identifiers.org/clinvar/206703 ^@ NM_005506.3(SCARB2):c.704+16T>C http://identifiers.org/clinvar/206710 ^@ NM_005506.3(SCARB2):c.523G>A (p.Glu175Lys) http://identifiers.org/clinvar/206702 ^@ NM_005506.3(SCARB2):c.475A>G (p.Met159Val) http://identifiers.org/clinvar/206701 ^@ NM_005506.3(SCARB2):c.445G>A (p.Val149Met) http://identifiers.org/clinvar/206709 ^@ NM_005506.3(SCARB2):c.361C>T (p.Arg121Ter) http://identifiers.org/clinvar/206724 ^@ NM_005506.3(SCARB2):c.277G>A (p.Glu93Lys) http://identifiers.org/clinvar/206708 ^@ NM_005506.3(SCARB2):c.194A>G (p.Tyr65Cys) http://identifiers.org/clinvar/206722 ^@ NM_005506.3(SCARB2):c.80G>A (p.Arg27Gln) http://identifiers.org/clinvar/206707 ^@ NM_005506.3(SCARB2):c.-11C>T http://identifiers.org/clinvar/206721 ^@ NM_005506.3(SCARB2):c.-17C>G http://identifiers.org/clinvar/206706 ^@ NM_005506.3(SCARB2):c.-23C>G http://identifiers.org/clinvar/204823 ^@ NM_001182.4(ALDH7A1):c.*5G>A http://identifiers.org/clinvar/204852 ^@ NM_001182.4(ALDH7A1):c.1513G>C (p.Gly505Arg) http://identifiers.org/clinvar/204860 ^@ NM_001182.4(ALDH7A1):c.1493_1495delGAG (p.Gly498del) http://identifiers.org/clinvar/204851 ^@ NM_001182.4(ALDH7A1):c.1481G>T (p.Gly494Val) http://identifiers.org/clinvar/204859 ^@ NM_001182.4(ALDH7A1):c.1468delG (p.Ala490Leufs) http://identifiers.org/clinvar/204850 ^@ NM_001182.4(ALDH7A1):c.1441G>T (p.Val481Leu) http://identifiers.org/clinvar/204849 ^@ NM_001182.4(ALDH7A1):c.1375A>T (p.Ile459Phe) http://identifiers.org/clinvar/204848 ^@ NM_001182.4(ALDH7A1):c.1301A>G (p.Tyr434Cys) http://identifiers.org/clinvar/204865 ^@ NM_001182.4(ALDH7A1):c.1281G>T (p.Glu427Asp) http://identifiers.org/clinvar/204846 ^@ NM_001182.4(ALDH7A1):c.1267A>G (p.Ile423Val) http://identifiers.org/clinvar/204845 ^@ NM_001182.4(ALDH7A1):c.1262C>T (p.Ala421Val) http://identifiers.org/clinvar/204844 ^@ NM_001182.4(ALDH7A1):c.1225G>T (p.Val409Leu) http://identifiers.org/clinvar/204843 ^@ NM_001182.4(ALDH7A1):c.1207G>A (p.Asp403Asn) http://identifiers.org/clinvar/204842 ^@ NM_001182.4(ALDH7A1):c.1084C>T (p.Pro362Ser) http://identifiers.org/clinvar/204822 ^@ NM_001182.4(ALDH7A1):c.1069A>G (p.Ile357Val) http://identifiers.org/clinvar/204841 ^@ NM_001182.4(ALDH7A1):c.1046G>C (p.Arg349Thr) http://identifiers.org/clinvar/204821 ^@ NM_001182.4(ALDH7A1):c.1022G>A (p.Ser341Asn) http://identifiers.org/clinvar/204864 ^@ NM_001182.4(ALDH7A1):c.1016A>G (p.His339Arg) http://identifiers.org/clinvar/204832 ^@ NM_001182.4(ALDH7A1):c.1004G>A (p.Arg335Gln) http://identifiers.org/clinvar/204839 ^@ NM_001182.4(ALDH7A1):c.860A>G (p.Gln287Arg) http://identifiers.org/clinvar/204820 ^@ NM_001182.4(ALDH7A1):c.858G>A (p.Val286=) http://identifiers.org/clinvar/204838 ^@ NM_001182.4(ALDH7A1):c.826A>C (p.Thr276Pro) http://identifiers.org/clinvar/204837 ^@ NM_001182.4(ALDH7A1):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/204833 ^@ NM_001182.4(ALDH7A1):c.664A>G (p.Thr222Ala) http://identifiers.org/clinvar/204831 ^@ NM_001182.4(ALDH7A1):c.607T>G (p.Trp203Gly) http://identifiers.org/clinvar/204830 ^@ NM_001182.4(ALDH7A1):c.553G>A (p.Val185Ile) http://identifiers.org/clinvar/204829 ^@ NM_001182.4(ALDH7A1):c.542A>G (p.Gln181Arg) http://identifiers.org/clinvar/204828 ^@ NM_001182.4(ALDH7A1):c.536T>C (p.Ile179Thr) http://identifiers.org/clinvar/204827 ^@ NM_001182.4(ALDH7A1):c.365G>C (p.Arg122Pro) http://identifiers.org/clinvar/204863 ^@ NM_001182.4(ALDH7A1):c.364C>T (p.Arg122Trp) http://identifiers.org/clinvar/204868 ^@ NM_001182.4(ALDH7A1):c.285_286insG (p.Arg96Glufs) http://identifiers.org/clinvar/204836 ^@ NM_001182.4(ALDH7A1):c.206A>G (p.Tyr69Cys) http://identifiers.org/clinvar/204835 ^@ NM_001182.4(ALDH7A1):c.203C>A (p.Thr68Asn) http://identifiers.org/clinvar/204834 ^@ NM_001182.4(ALDH7A1):c.200C>T (p.Thr67Met) http://identifiers.org/clinvar/204862 ^@ NM_001182.4(ALDH7A1):c.191_192dupAG (p.Val65Argfs) http://identifiers.org/clinvar/204858 ^@ NM_001182.4(ALDH7A1):c.108G>T (p.Gln36His) http://identifiers.org/clinvar/204857 ^@ NM_001182.4(ALDH7A1):c.73C>T (p.Pro25Ser) http://identifiers.org/clinvar/204856 ^@ NM_001182.4(ALDH7A1):c.67A>G (p.Ser23Gly) http://identifiers.org/clinvar/204855 ^@ NM_001182.4(ALDH7A1):c.56C>T (p.Ser19Phe) http://identifiers.org/clinvar/204861 ^@ NM_001182.4(ALDH7A1):c.31_33delCACinsGAG (p.His11Glu) http://identifiers.org/clinvar/204826 ^@ NM_001182.4(ALDH7A1):c.23T>C (p.Leu8Pro) http://identifiers.org/clinvar/204867 ^@ NM_001182.4(ALDH7A1):c.13C>T (p.Pro5Ser) http://identifiers.org/clinvar/204854 ^@ NM_001182.4(ALDH7A1):c.8G>T (p.Arg3Leu) http://identifiers.org/clinvar/204866 ^@ NM_001182.4(ALDH7A1):c.8G>A (p.Arg3His) http://identifiers.org/clinvar/204853 ^@ NM_001182.4(ALDH7A1):c.7C>T (p.Arg3Cys) http://identifiers.org/clinvar/204825 ^@ NM_001182.4(ALDH7A1):c.-18C>G http://identifiers.org/clinvar/204824 ^@ NM_001182.4(ALDH7A1):c.-34G>C http://identifiers.org/clinvar/205513 ^@ NM_000806.5(GABRA1):c.-4C>T http://identifiers.org/clinvar/205514 ^@ NM_000806.5(GABRA1):c.11G>A (p.Ser4Asn) http://identifiers.org/clinvar/205529 ^@ NM_000806.5(GABRA1):c.86C>T (p.Pro29Leu) http://identifiers.org/clinvar/205530 ^@ NM_000806.5(GABRA1):c.187+5G>A http://identifiers.org/clinvar/205517 ^@ NM_000806.5(GABRA1):c.268G>C (p.Asp90His) http://identifiers.org/clinvar/205531 ^@ NM_000806.5(GABRA1):c.484G>A (p.Val162Met) http://identifiers.org/clinvar/205521 ^@ NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile) http://identifiers.org/clinvar/205515 ^@ NM_000806.5(GABRA1):c.831G>A (p.Glu277=) http://identifiers.org/clinvar/205522 ^@ NM_000806.5(GABRA1):c.859G>A (p.Val287Ile) http://identifiers.org/clinvar/205523 ^@ NM_000806.5(GABRA1):c.868G>A (p.Val290Met) http://identifiers.org/clinvar/205524 ^@ NM_000806.5(GABRA1):c.881C>T (p.Thr294Ile) http://identifiers.org/clinvar/205525 ^@ NM_000806.5(GABRA1):c.884C>T (p.Thr295Ile) http://identifiers.org/clinvar/205526 ^@ NM_000806.5(GABRA1):c.891C>G (p.Ser297Arg) http://identifiers.org/clinvar/205527 ^@ NM_000806.5(GABRA1):c.949A>C (p.Ile317Leu) http://identifiers.org/clinvar/205516 ^@ NM_000806.5(GABRA1):c.1060-15T>C http://identifiers.org/clinvar/205528 ^@ NM_000806.5(GABRA1):c.1130C>T (p.Pro377Leu) http://identifiers.org/clinvar/205557 ^@ NM_000816.3(GABRG2):c.11C>T (p.Pro4Leu) http://identifiers.org/clinvar/205558 ^@ NM_000816.3(GABRG2):c.13A>T (p.Asn5Tyr) http://identifiers.org/clinvar/205536 ^@ NM_000816.3(GABRG2):c.37G>A (p.Val13Ile) http://identifiers.org/clinvar/205559 ^@ NM_000816.3(GABRG2):c.70A>G (p.Thr24Ala) http://identifiers.org/clinvar/205560 ^@ NM_000816.3(GABRG2):c.107+3A>G http://identifiers.org/clinvar/205537 ^@ NM_000816.3(GABRG2):c.107+12C>T http://identifiers.org/clinvar/205539 ^@ NM_000816.3(GABRG2):c.220C>G (p.Leu74Val) http://identifiers.org/clinvar/205561 ^@ NM_000816.3(GABRG2):c.272T>G (p.Leu91Ter) http://identifiers.org/clinvar/205541 ^@ NM_000816.3(GABRG2):c.316G>A (p.Ala106Thr) http://identifiers.org/clinvar/205543 ^@ NM_000816.3(GABRG2):c.549-3T>G http://identifiers.org/clinvar/205532 ^@ NM_198903.2(GABRG2):c.632-10_632-6dupTTTTG http://identifiers.org/clinvar/205545 ^@ NM_000816.3(GABRG2):c.770-1G>A http://identifiers.org/clinvar/205563 ^@ NM_000816.3(GABRG2):c.808A>G (p.Arg270Gly) http://identifiers.org/clinvar/205546 ^@ NM_000816.3(GABRG2):c.844C>A (p.Pro282Thr) http://identifiers.org/clinvar/205548 ^@ NM_000816.3(GABRG2):c.919T>G (p.Leu307Val) http://identifiers.org/clinvar/205533 ^@ NM_000816.3(GABRG2):c.922+6A>G http://identifiers.org/clinvar/205549 ^@ NM_000816.3(GABRG2):c.967C>T (p.Arg323Trp) http://identifiers.org/clinvar/205550 ^@ NM_000816.3(GABRG2):c.985G>T (p.Val329Phe) http://identifiers.org/clinvar/205551 ^@ NM_000816.3(GABRG2):c.1029C>G (p.Phe343Leu) http://identifiers.org/clinvar/205552 ^@ NM_000816.3(GABRG2):c.1087C>T (p.Arg363Trp) http://identifiers.org/clinvar/205564 ^@ NM_000816.3(GABRG2):c.1088G>A (p.Arg363Gln) http://identifiers.org/clinvar/205553 ^@ NM_000816.3(GABRG2):c.1112A>C (p.Lys371Thr) http://identifiers.org/clinvar/205534 ^@ NM_000816.3(GABRG2):c.1212C>T (p.Tyr404=) http://identifiers.org/clinvar/205555 ^@ NM_000816.3(GABRG2):c.1289G>A (p.Arg430Lys) http://identifiers.org/clinvar/205556 ^@ NM_000816.3(GABRG2):c.1336C>T (p.Arg446Trp) http://identifiers.org/clinvar/205535 ^@ NM_000816.3(GABRG2):c.*20A>C http://identifiers.org/clinvar/206122 ^@ NM_002397.4(MEF2C):c.*16C>G http://identifiers.org/clinvar/206128 ^@ NM_002397.4(MEF2C):c.1029C>G (p.His343Gln) http://identifiers.org/clinvar/206127 ^@ NM_002397.4(MEF2C):c.980G>C (p.Ser327Thr) http://identifiers.org/clinvar/206121 ^@ NM_002397.4(MEF2C):c.811-13C>T http://identifiers.org/clinvar/206126 ^@ NM_002397.4(MEF2C):c.730A>G (p.Met244Val) http://identifiers.org/clinvar/206138 ^@ NM_001131005.2(MEF2C):c.346dupA (p.Ile118Asnfs) http://identifiers.org/clinvar/206133 ^@ NM_002397.4(MEF2C):c.120_125dupCTGTGA (p.Cys41_Glu42insAspCys) http://identifiers.org/clinvar/206130 ^@ NM_002397.4(MEF2C):c.115T>C (p.Cys39Arg) http://identifiers.org/clinvar/206129 ^@ NM_002397.4(MEF2C):c.43C>T (p.Arg15Cys) http://identifiers.org/clinvar/206123 ^@ NM_002397.4(MEF2C):c.-42T>C http://identifiers.org/clinvar/205448 ^@ NM_005670.3(EPM2A):c.992T>C (p.Leu331Pro) http://identifiers.org/clinvar/205423 ^@ NM_005670.3(EPM2A):c.974G>A (p.Arg325His) http://identifiers.org/clinvar/205434 ^@ NM_005670.3(EPM2A):c.878A>T (p.Gln293Leu) http://identifiers.org/clinvar/205447 ^@ NM_005670.3(EPM2A):c.818C>G (p.Ser273Cys) http://identifiers.org/clinvar/205435 ^@ NM_005670.3(EPM2A):c.722G>A (p.Arg241Gln) http://identifiers.org/clinvar/205429 ^@ NM_005670.3(EPM2A):c.644A>T (p.Asp215Val) http://identifiers.org/clinvar/205428 ^@ NM_005670.3(EPM2A):c.620G>A (p.Arg207His) http://identifiers.org/clinvar/205427 ^@ NM_005670.3(EPM2A):c.553G>A (p.Gly185Arg) http://identifiers.org/clinvar/205426 ^@ NM_005670.3(EPM2A):c.488A>G (p.Asn163Ser) http://identifiers.org/clinvar/205446 ^@ NM_005670.3(EPM2A):c.302_476del175 (p.Gly101Glufs) http://identifiers.org/clinvar/205439 ^@ NM_005670.3(EPM2A):c.446T>C (p.Ile149Thr) http://identifiers.org/clinvar/205438 ^@ NM_005670.3(EPM2A):c.379G>A (p.Gly127Arg) http://identifiers.org/clinvar/205437 ^@ NM_005670.3(EPM2A):c.241G>A (p.Val81Met) http://identifiers.org/clinvar/205433 ^@ NM_005670.3(EPM2A):c.209A>T (p.Glu70Val) http://identifiers.org/clinvar/205432 ^@ NM_005670.3(EPM2A):c.193G>A (p.Glu65Lys) http://identifiers.org/clinvar/205431 ^@ NM_005670.3(EPM2A):c.166G>T (p.Glu56Ter) http://identifiers.org/clinvar/205450 ^@ NM_005670.3(EPM2A):c.157_159delGCCinsACG (p.Ala53Thr) http://identifiers.org/clinvar/205430 ^@ NM_005670.3(EPM2A):c.157G>A (p.Ala53Thr) http://identifiers.org/clinvar/205425 ^@ NM_005670.3(EPM2A):c.149G>A (p.Gly50Glu) http://identifiers.org/clinvar/205424 ^@ NM_005670.3(EPM2A):c.148G>A (p.Gly50Arg) http://identifiers.org/clinvar/205444 ^@ NM_005670.3(EPM2A):c.136G>A (p.Ala46Thr) http://identifiers.org/clinvar/205449 ^@ NM_005670.3(EPM2A):c.100C>G (p.Pro34Ala) http://identifiers.org/clinvar/205443 ^@ NM_005670.3(EPM2A):c.88G>A (p.Gly30Arg) http://identifiers.org/clinvar/205442 ^@ NM_005670.3(EPM2A):c.77G>T (p.Arg26Leu) http://identifiers.org/clinvar/205441 ^@ NM_005670.3(EPM2A):c.44G>A (p.Gly15Asp) http://identifiers.org/clinvar/205440 ^@ NM_005670.3(EPM2A):c.4C>T (p.Arg2Cys) http://identifiers.org/clinvar/206192 ^@ NM_198586.2(NHLRC1):c.1142A>G (p.Asp381Gly) http://identifiers.org/clinvar/206182 ^@ NM_198586.2(NHLRC1):c.1091C>T (p.Ser364Leu) http://identifiers.org/clinvar/206181 ^@ NM_198586.2(NHLRC1):c.1090T>A (p.Ser364Thr) http://identifiers.org/clinvar/206180 ^@ NM_198586.2(NHLRC1):c.1072A>C (p.Met358Leu) http://identifiers.org/clinvar/206179 ^@ NM_198586.2(NHLRC1):c.969C>T (p.Ser323=) http://identifiers.org/clinvar/206196 ^@ NM_198586.2(NHLRC1):c.805G>A (p.Val269Met) http://identifiers.org/clinvar/206191 ^@ NM_198586.2(NHLRC1):c.791C>G (p.Pro264Arg) http://identifiers.org/clinvar/206190 ^@ NM_198586.2(NHLRC1):c.681T>A (p.Asn227Lys) http://identifiers.org/clinvar/206178 ^@ NM_198586.2(NHLRC1):c.551A>G (p.Asn184Ser) http://identifiers.org/clinvar/206177 ^@ NM_198586.2(NHLRC1):c.513C>T (p.Ala171=) http://identifiers.org/clinvar/206189 ^@ NM_198586.2(NHLRC1):c.478T>C (p.Cys160Arg) http://identifiers.org/clinvar/206188 ^@ NM_198586.2(NHLRC1):c.422T>C (p.Val141Ala) http://identifiers.org/clinvar/206187 ^@ NM_198586.2(NHLRC1):c.386C>A (p.Pro129His) http://identifiers.org/clinvar/206186 ^@ NM_198586.2(NHLRC1):c.319G>A (p.Ala107Thr) http://identifiers.org/clinvar/206194 ^@ NM_198586.2(NHLRC1):c.226delC (p.Arg76Glyfs) http://identifiers.org/clinvar/206185 ^@ NM_198586.2(NHLRC1):c.185G>A (p.Arg62His) http://identifiers.org/clinvar/206184 ^@ NM_198586.2(NHLRC1):c.103C>G (p.His35Asp) http://identifiers.org/clinvar/206183 ^@ NM_198586.2(NHLRC1):c.58G>A (p.Glu20Lys) http://identifiers.org/clinvar/206195 ^@ NM_198586.2(NHLRC1):c.52G>C (p.Glu18Gln) http://identifiers.org/clinvar/206193 ^@ NM_198586.2(NHLRC1):c.4_5delGCinsAA (p.Ala2Lys) http://identifiers.org/clinvar/206171 ^@ NM_198586.2(NHLRC1):c.-35G>T http://identifiers.org/clinvar/206176 ^@ NM_198586.2(NHLRC1):c.-36G>C http://identifiers.org/clinvar/205411 ^@ NM_018100.3(EFHC1):c.19C>G (p.His7Asp) http://identifiers.org/clinvar/205418 ^@ NM_018100.3(EFHC1):c.22G>C (p.Gly8Arg) http://identifiers.org/clinvar/205380 ^@ NM_018100.3(EFHC1):c.43A>G (p.Thr15Ala) http://identifiers.org/clinvar/205419 ^@ NM_018100.3(EFHC1):c.63+2T>C http://identifiers.org/clinvar/205394 ^@ NM_018100.3(EFHC1):c.68C>T (p.Thr23Ile) http://identifiers.org/clinvar/205395 ^@ NM_018100.3(EFHC1):c.84T>A (p.Ser28Arg) http://identifiers.org/clinvar/205396 ^@ NM_018100.3(EFHC1):c.89C>T (p.Thr30Met) http://identifiers.org/clinvar/205397 ^@ NM_018100.3(EFHC1):c.97T>C (p.Tyr33His) http://identifiers.org/clinvar/205398 ^@ NM_018100.3(EFHC1):c.151C>T (p.Arg51Trp) http://identifiers.org/clinvar/205421 ^@ NM_018100.3(EFHC1):c.266A>G (p.His89Arg) http://identifiers.org/clinvar/205381 ^@ NM_018100.3(EFHC1):c.344A>G (p.Tyr115Cys) http://identifiers.org/clinvar/205378 ^@ NM_018100.3(EFHC1):c.547G>A (p.Val183Ile) http://identifiers.org/clinvar/205382 ^@ NM_018100.3(EFHC1):c.574G>A (p.Val192Ile) http://identifiers.org/clinvar/205383 ^@ NM_018100.3(EFHC1):c.661C>T (p.Arg221Cys) http://identifiers.org/clinvar/205385 ^@ NM_018100.3(EFHC1):c.680C>T (p.Ser227Leu) http://identifiers.org/clinvar/205387 ^@ NM_018100.3(EFHC1):c.724-14T>A http://identifiers.org/clinvar/205388 ^@ NM_018100.3(EFHC1):c.731G>A (p.Arg244Gln) http://identifiers.org/clinvar/205389 ^@ NM_018100.3(EFHC1):c.779G>A (p.Arg260Gln) http://identifiers.org/clinvar/205390 ^@ NM_018100.3(EFHC1):c.810T>G (p.Asp270Glu) http://identifiers.org/clinvar/205391 ^@ NM_018100.3(EFHC1):c.817G>T (p.Val273Leu) http://identifiers.org/clinvar/205392 ^@ NM_018100.3(EFHC1):c.826C>G (p.Arg276Gly) http://identifiers.org/clinvar/205393 ^@ NM_018100.3(EFHC1):c.911A>G (p.Asn304Ser) http://identifiers.org/clinvar/205399 ^@ NM_018100.3(EFHC1):c.922T>A (p.Phe308Ile) http://identifiers.org/clinvar/205401 ^@ NM_018100.3(EFHC1):c.1057C>T (p.Arg353Trp) http://identifiers.org/clinvar/205402 ^@ NM_018100.3(EFHC1):c.1058G>A (p.Arg353Gln) http://identifiers.org/clinvar/205403 ^@ NM_018100.3(EFHC1):c.1114C>T (p.Arg372Trp) http://identifiers.org/clinvar/205406 ^@ NM_018100.3(EFHC1):c.1172A>G (p.Glu391Gly) http://identifiers.org/clinvar/205407 ^@ NM_018100.3(EFHC1):c.1187A>G (p.Asn396Ser) http://identifiers.org/clinvar/205408 ^@ NM_018100.3(EFHC1):c.1270G>T (p.Ala424Ser) http://identifiers.org/clinvar/205420 ^@ NM_018100.3(EFHC1):c.1312delT (p.Phe438Leufs) http://identifiers.org/clinvar/205404 ^@ NM_018100.3(EFHC1):c.1370G>T (p.Arg457Leu) http://identifiers.org/clinvar/205409 ^@ NM_018100.3(EFHC1):c.1443C>A (p.Asn481Lys) http://identifiers.org/clinvar/205410 ^@ NM_018100.3(EFHC1):c.1451A>G (p.Tyr484Cys) http://identifiers.org/clinvar/205412 ^@ NM_018100.3(EFHC1):c.1454A>G (p.Tyr485Cys) http://identifiers.org/clinvar/205413 ^@ NM_018100.3(EFHC1):c.1547T>C (p.Met516Thr) http://identifiers.org/clinvar/205379 ^@ NM_018100.3(EFHC1):c.1557C>T (p.Asn519=) http://identifiers.org/clinvar/205414 ^@ NM_018100.3(EFHC1):c.1612C>T (p.Arg538Ter) http://identifiers.org/clinvar/205415 ^@ NM_018100.3(EFHC1):c.1765G>A (p.Glu589Lys) http://identifiers.org/clinvar/205416 ^@ NM_018100.3(EFHC1):c.1856T>G (p.Ile619Ser) http://identifiers.org/clinvar/205417 ^@ NM_018100.3(EFHC1):c.1892A>G (p.Tyr631Cys) http://identifiers.org/clinvar/205422 ^@ NM_018100.3(EFHC1):c.1907G>A (p.Arg636His) http://identifiers.org/clinvar/205226 ^@ NM_014141.5(CNTNAP2):c.-46A>T http://identifiers.org/clinvar/205242 ^@ NM_014141.5(CNTNAP2):c.37C>T (p.Leu13Phe) http://identifiers.org/clinvar/205311 ^@ NM_014141.5(CNTNAP2):c.65T>C (p.Leu22Pro) http://identifiers.org/clinvar/205214 ^@ NM_014141.5(CNTNAP2):c.83C>T (p.Ala28Val) http://identifiers.org/clinvar/205224 ^@ NM_014141.5(CNTNAP2):c.98-19_98-16delCTCT http://identifiers.org/clinvar/205295 ^@ NM_014141.5(CNTNAP2):c.115C>T (p.Leu39Phe) http://identifiers.org/clinvar/205225 ^@ NM_014141.5(CNTNAP2):c.133C>T (p.His45Tyr) http://identifiers.org/clinvar/205296 ^@ NM_014141.5(CNTNAP2):c.181G>A (p.Gly61Ser) http://identifiers.org/clinvar/205297 ^@ NM_014141.5(CNTNAP2):c.200A>G (p.Lys67Arg) http://identifiers.org/clinvar/205298 ^@ NM_014141.5(CNTNAP2):c.208G>C (p.Gly70Arg) http://identifiers.org/clinvar/205299 ^@ NM_014141.5(CNTNAP2):c.238G>A (p.Asp80Asn) http://identifiers.org/clinvar/205300 ^@ NM_014141.5(CNTNAP2):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/205301 ^@ NM_014141.5(CNTNAP2):c.286A>G (p.Ser96Gly) http://identifiers.org/clinvar/205320 ^@ NM_014141.5(CNTNAP2):c.293T>C (p.Ile98Thr) http://identifiers.org/clinvar/205302 ^@ NM_014141.5(CNTNAP2):c.355G>A (p.Asp119Asn) http://identifiers.org/clinvar/205321 ^@ NM_014141.5(CNTNAP2):c.400T>G (p.Trp134Gly) http://identifiers.org/clinvar/205303 ^@ NM_014141.5(CNTNAP2):c.416A>G (p.Asn139Ser) http://identifiers.org/clinvar/205305 ^@ NM_014141.5(CNTNAP2):c.436G>A (p.Val146Ile) http://identifiers.org/clinvar/205306 ^@ NM_014141.5(CNTNAP2):c.496T>C (p.Trp166Arg) http://identifiers.org/clinvar/205308 ^@ NM_014141.5(CNTNAP2):c.515T>C (p.Ile172Thr) http://identifiers.org/clinvar/205309 ^@ NM_014141.5(CNTNAP2):c.632T>C (p.Val211Ala) http://identifiers.org/clinvar/205310 ^@ NM_014141.5(CNTNAP2):c.653C>T (p.Thr218Met) http://identifiers.org/clinvar/205322 ^@ NM_014141.5(CNTNAP2):c.676C>A (p.Leu226Met) http://identifiers.org/clinvar/205211 ^@ NM_014141.5(CNTNAP2):c.755-5C>A http://identifiers.org/clinvar/205212 ^@ NM_014141.5(CNTNAP2):c.837G>A (p.Val279=) http://identifiers.org/clinvar/205304 ^@ NM_014141.5(CNTNAP2):c.851delA (p.Gln284Argfs) http://identifiers.org/clinvar/205227 ^@ NM_014141.5(CNTNAP2):c.857G>A (p.Arg286Gln) http://identifiers.org/clinvar/205228 ^@ NM_014141.5(CNTNAP2):c.913T>A (p.Phe305Ile) http://identifiers.org/clinvar/205229 ^@ NM_014141.5(CNTNAP2):c.1028A>G (p.Asn343Ser) http://identifiers.org/clinvar/205230 ^@ NM_014141.5(CNTNAP2):c.1078A>G (p.Asn360Asp) http://identifiers.org/clinvar/205231 ^@ NM_014141.5(CNTNAP2):c.1099T>C (p.Ser367Pro) http://identifiers.org/clinvar/205232 ^@ NM_014141.5(CNTNAP2):c.1137C>A (p.Asn379Lys) http://identifiers.org/clinvar/205233 ^@ NM_014141.5(CNTNAP2):c.1145G>A (p.Ser382Asn) http://identifiers.org/clinvar/205234 ^@ NM_014141.5(CNTNAP2):c.1173C>G (p.Asn391Lys) http://identifiers.org/clinvar/205235 ^@ NM_014141.5(CNTNAP2):c.1238G>A (p.Ser413Asn) http://identifiers.org/clinvar/205236 ^@ NM_014141.5(CNTNAP2):c.1249G>T (p.Asp417Tyr) http://identifiers.org/clinvar/205237 ^@ NM_014141.5(CNTNAP2):c.1259G>A (p.Gly420Asp) http://identifiers.org/clinvar/205238 ^@ NM_014141.5(CNTNAP2):c.1264G>A (p.Val422Met) http://identifiers.org/clinvar/205239 ^@ NM_014141.5(CNTNAP2):c.1273G>A (p.Asp425Asn) http://identifiers.org/clinvar/205240 ^@ NM_014141.5(CNTNAP2):c.1337A>G (p.Asp446Gly) http://identifiers.org/clinvar/205241 ^@ NM_014141.5(CNTNAP2):c.1346C>G (p.Ser449Ter) http://identifiers.org/clinvar/205213 ^@ NM_014141.5(CNTNAP2):c.1348+13T>G http://identifiers.org/clinvar/205243 ^@ NM_014141.5(CNTNAP2):c.1385G>A (p.Arg462His) http://identifiers.org/clinvar/205244 ^@ NM_014141.5(CNTNAP2):c.1447C>T (p.Arg483Ter) http://identifiers.org/clinvar/205312 ^@ NM_014141.5(CNTNAP2):c.1458T>A (p.Ser486Arg) http://identifiers.org/clinvar/205245 ^@ NM_014141.5(CNTNAP2):c.1480G>A (p.Glu494Lys) http://identifiers.org/clinvar/205246 ^@ NM_014141.5(CNTNAP2):c.1597T>A (p.Leu533Ile) http://identifiers.org/clinvar/205247 ^@ NM_014141.5(CNTNAP2):c.1709C>G (p.Ser570Trp) http://identifiers.org/clinvar/205215 ^@ NM_014141.5(CNTNAP2):c.1709C>T (p.Ser570Leu) http://identifiers.org/clinvar/205216 ^@ NM_014141.5(CNTNAP2):c.1777+7G>A http://identifiers.org/clinvar/205248 ^@ NM_014141.5(CNTNAP2):c.1786G>A (p.Glu596Lys) http://identifiers.org/clinvar/205249 ^@ NM_014141.5(CNTNAP2):c.1814T>G (p.Leu605Arg) http://identifiers.org/clinvar/205250 ^@ NM_014141.5(CNTNAP2):c.1858G>A (p.Gly620Arg) http://identifiers.org/clinvar/205313 ^@ NM_014141.5(CNTNAP2):c.1861C>A (p.Pro621Thr) http://identifiers.org/clinvar/205251 ^@ NM_014141.5(CNTNAP2):c.1879G>A (p.Val627Ile) http://identifiers.org/clinvar/205217 ^@ NM_014141.5(CNTNAP2):c.1898-9T>C http://identifiers.org/clinvar/205253 ^@ NM_014141.5(CNTNAP2):c.1943C>T (p.Thr648Met) http://identifiers.org/clinvar/205218 ^@ NM_014141.5(CNTNAP2):c.1990G>A (p.Val664Ile) http://identifiers.org/clinvar/205254 ^@ NM_014141.5(CNTNAP2):c.1997G>A (p.Ser666Asn) http://identifiers.org/clinvar/205219 ^@ NM_014141.5(CNTNAP2):c.2046C>T (p.Cys682=) http://identifiers.org/clinvar/205255 ^@ NM_014141.5(CNTNAP2):c.2047G>A (p.Glu683Lys) http://identifiers.org/clinvar/205252 ^@ NM_014141.5(CNTNAP2):c.2097A>G (p.Pro699=) http://identifiers.org/clinvar/205256 ^@ NM_014141.5(CNTNAP2):c.2123T>C (p.Val708Ala) http://identifiers.org/clinvar/205257 ^@ NM_014141.5(CNTNAP2):c.2136C>A (p.Asn712Lys) http://identifiers.org/clinvar/205258 ^@ NM_014141.5(CNTNAP2):c.2147A>G (p.Tyr716Cys) http://identifiers.org/clinvar/205259 ^@ NM_014141.5(CNTNAP2):c.2191G>A (p.Gly731Ser) http://identifiers.org/clinvar/205260 ^@ NM_014141.5(CNTNAP2):c.2205C>A (p.Asn735Lys) http://identifiers.org/clinvar/205261 ^@ NM_014141.5(CNTNAP2):c.2239G>A (p.Ala747Thr) http://identifiers.org/clinvar/205262 ^@ NM_014141.5(CNTNAP2):c.2269G>T (p.Gly757Cys) http://identifiers.org/clinvar/205263 ^@ NM_014141.5(CNTNAP2):c.2290C>A (p.His764Asn) http://identifiers.org/clinvar/205264 ^@ NM_014141.5(CNTNAP2):c.2356G>A (p.Val786Ile) http://identifiers.org/clinvar/205265 ^@ NM_014141.5(CNTNAP2):c.2368C>T (p.Arg790Cys) http://identifiers.org/clinvar/205266 ^@ NM_014141.5(CNTNAP2):c.2411C>G (p.Pro804Arg) http://identifiers.org/clinvar/205267 ^@ NM_014141.5(CNTNAP2):c.2516A>G (p.Asn839Ser) http://identifiers.org/clinvar/205268 ^@ NM_014141.5(CNTNAP2):c.2525A>G (p.Lys842Arg) http://identifiers.org/clinvar/205269 ^@ NM_014141.5(CNTNAP2):c.2632A>G (p.Asn878Asp) http://identifiers.org/clinvar/205270 ^@ NM_014141.5(CNTNAP2):c.2650C>T (p.Arg884Trp) http://identifiers.org/clinvar/205271 ^@ NM_014141.5(CNTNAP2):c.2651G>A (p.Arg884Gln) http://identifiers.org/clinvar/205272 ^@ NM_014141.5(CNTNAP2):c.2653G>C (p.Val885Leu) http://identifiers.org/clinvar/205273 ^@ NM_014141.5(CNTNAP2):c.2705C>T (p.Pro902Leu) http://identifiers.org/clinvar/205315 ^@ NM_014141.5(CNTNAP2):c.2716C>T (p.Arg906Cys) http://identifiers.org/clinvar/205274 ^@ NM_014141.5(CNTNAP2):c.2826G>A (p.Met942Ile) http://identifiers.org/clinvar/205275 ^@ NM_014141.5(CNTNAP2):c.2891C>T (p.Ser964Leu) http://identifiers.org/clinvar/205276 ^@ NM_014141.5(CNTNAP2):c.2930G>T (p.Gly977Val) http://identifiers.org/clinvar/205277 ^@ NM_014141.5(CNTNAP2):c.2955C>A (p.His985Gln) http://identifiers.org/clinvar/205316 ^@ NM_014141.5(CNTNAP2):c.3040T>C (p.Trp1014Arg) http://identifiers.org/clinvar/205278 ^@ NM_014141.5(CNTNAP2):c.3076G>A (p.Ala1026Thr) http://identifiers.org/clinvar/205220 ^@ NM_014141.5(CNTNAP2):c.3112G>A (p.Asp1038Asn) http://identifiers.org/clinvar/205279 ^@ NM_014141.5(CNTNAP2):c.3154C>T (p.Arg1052Cys) http://identifiers.org/clinvar/205280 ^@ NM_014141.5(CNTNAP2):c.3155G>A (p.Arg1052His) http://identifiers.org/clinvar/205281 ^@ NM_014141.5(CNTNAP2):c.3167G>C (p.Ser1056Thr) http://identifiers.org/clinvar/205282 ^@ NM_014141.5(CNTNAP2):c.3179C>T (p.Ala1060Val) http://identifiers.org/clinvar/205283 ^@ NM_014141.5(CNTNAP2):c.3263G>T (p.Arg1088Leu) http://identifiers.org/clinvar/205317 ^@ NM_014141.5(CNTNAP2):c.3278G>A (p.Gly1093Asp) http://identifiers.org/clinvar/205284 ^@ NM_014141.5(CNTNAP2):c.3304G>A (p.Val1102Ile) http://identifiers.org/clinvar/205221 ^@ NM_014141.5(CNTNAP2):c.3305T>C (p.Val1102Ala) http://identifiers.org/clinvar/205285 ^@ NM_014141.5(CNTNAP2):c.3344T>C (p.Val1115Ala) http://identifiers.org/clinvar/205286 ^@ NM_014141.5(CNTNAP2):c.3346A>G (p.Asn1116Asp) http://identifiers.org/clinvar/205318 ^@ NM_014141.5(CNTNAP2):c.3361G>C (p.Glu1121Gln) http://identifiers.org/clinvar/205288 ^@ NM_014141.5(CNTNAP2):c.3575C>T (p.Ala1192Val) http://identifiers.org/clinvar/205289 ^@ NM_014141.5(CNTNAP2):c.3607G>A (p.Val1203Ile) http://identifiers.org/clinvar/205222 ^@ NM_014141.5(CNTNAP2):c.3660C>A (p.Thr1220=) http://identifiers.org/clinvar/205290 ^@ NM_014141.5(CNTNAP2):c.3697C>G (p.Leu1233Val) http://identifiers.org/clinvar/205291 ^@ NM_014141.5(CNTNAP2):c.3709G>A (p.Asp1237Asn) http://identifiers.org/clinvar/205319 ^@ NM_014141.5(CNTNAP2):c.3758T>C (p.Ile1253Thr) http://identifiers.org/clinvar/205292 ^@ NM_014141.5(CNTNAP2):c.3781T>G (p.Ser1261Ala) http://identifiers.org/clinvar/205293 ^@ NM_014141.5(CNTNAP2):c.3949A>T (p.Asn1317Tyr) http://identifiers.org/clinvar/205294 ^@ NM_014141.5(CNTNAP2):c.3968A>C (p.Asp1323Ala) http://identifiers.org/clinvar/206013 ^@ NM_153033.4(KCTD7):c.68C>T (p.Ala23Val) http://identifiers.org/clinvar/206019 ^@ NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) http://identifiers.org/clinvar/206014 ^@ NM_153033.4(KCTD7):c.140A>G (p.Gln47Arg) http://identifiers.org/clinvar/206007 ^@ NM_153033.4(KCTD7):c.192A>G (p.Thr64=) http://identifiers.org/clinvar/206011 ^@ NM_153033.4(KCTD7):c.193C>T (p.Arg65Cys) http://identifiers.org/clinvar/206012 ^@ NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) http://identifiers.org/clinvar/206008 ^@ NM_153033.4(KCTD7):c.273C>T (p.Ser91=) http://identifiers.org/clinvar/206015 ^@ NM_153033.4(KCTD7):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/206009 ^@ NM_153033.4(KCTD7):c.444G>T (p.Lys148Asn) http://identifiers.org/clinvar/206010 ^@ NM_153033.4(KCTD7):c.447C>T (p.Gly149=) http://identifiers.org/clinvar/206004 ^@ NM_153033.4(KCTD7):c.456G>A (p.Val152=) http://identifiers.org/clinvar/206006 ^@ NM_153033.4(KCTD7):c.507G>C (p.Arg169=) http://identifiers.org/clinvar/206016 ^@ NM_153033.4(KCTD7):c.536_543delTCCAGCGG (p.Val179Glufs) http://identifiers.org/clinvar/206017 ^@ NM_153033.4(KCTD7):c.704G>C (p.Trp235Ser) http://identifiers.org/clinvar/205995 ^@ NM_001204824.1(KCNQ3):c.2254A>G (p.Ile752Val) http://identifiers.org/clinvar/205954 ^@ NM_001204824.1(KCNQ3):c.2131C>T (p.Arg711Trp) http://identifiers.org/clinvar/205994 ^@ NM_001204824.1(KCNQ3):c.2083G>T (p.Asp695Tyr) http://identifiers.org/clinvar/205993 ^@ NM_001204824.1(KCNQ3):c.2023G>A (p.Val675Ile) http://identifiers.org/clinvar/205992 ^@ NM_001204824.1(KCNQ3):c.1991G>A (p.Arg664Gln) http://identifiers.org/clinvar/205990 ^@ NM_001204824.1(KCNQ3):c.1970G>A (p.Arg657Gln) http://identifiers.org/clinvar/205989 ^@ NM_001204824.1(KCNQ3):c.1958G>A (p.Arg653Gln) http://identifiers.org/clinvar/205988 ^@ NM_004519.3(KCNQ3):c.2263G>A (p.Asp755Asn) http://identifiers.org/clinvar/205987 ^@ NM_001204824.1(KCNQ3):c.1834G>A (p.Ala612Thr) http://identifiers.org/clinvar/205986 ^@ NM_001204824.1(KCNQ3):c.1786G>C (p.Asp596His) http://identifiers.org/clinvar/205985 ^@ NM_001204824.1(KCNQ3):c.1784A>G (p.His595Arg) http://identifiers.org/clinvar/205984 ^@ NM_001204824.1(KCNQ3):c.1768T>C (p.Tyr590His) http://identifiers.org/clinvar/205983 ^@ NM_001204824.1(KCNQ3):c.1711G>A (p.Gly571Ser) http://identifiers.org/clinvar/205981 ^@ NM_004519.3(KCNQ3):c.1958A>G (p.Gln653Arg) http://identifiers.org/clinvar/205980 ^@ NM_001204824.1(KCNQ3):c.1525G>T (p.Val509Phe) http://identifiers.org/clinvar/206003 ^@ NM_004519.3(KCNQ3):c.1885G>C (p.Val629Leu) http://identifiers.org/clinvar/205979 ^@ NM_001204824.1(KCNQ3):c.1490G>C (p.Ser497Thr) http://identifiers.org/clinvar/205976 ^@ NM_001204824.1(KCNQ3):c.1360C>A (p.Pro454Thr) http://identifiers.org/clinvar/205998 ^@ NM_001204824.1(KCNQ3):c.1355dupT (p.Thr453Hisfs) http://identifiers.org/clinvar/205975 ^@ NM_001204824.1(KCNQ3):c.1349T>C (p.Met450Thr) http://identifiers.org/clinvar/205978 ^@ NM_004519.3(KCNQ3):c.1599dupA (p.Phe534Ilefs) http://identifiers.org/clinvar/205974 ^@ NM_001204824.1(KCNQ3):c.1231A>G (p.Lys411Glu) http://identifiers.org/clinvar/205953 ^@ NM_001204824.1(KCNQ3):c.1208+14G>A http://identifiers.org/clinvar/205973 ^@ NM_001204824.1(KCNQ3):c.1178C>T (p.Pro393Leu) http://identifiers.org/clinvar/205972 ^@ NM_001204824.1(KCNQ3):c.1147G>A (p.Gly383Arg) http://identifiers.org/clinvar/205971 ^@ NM_001204824.1(KCNQ3):c.1061C>T (p.Thr354Met) http://identifiers.org/clinvar/205952 ^@ NM_001204824.1(KCNQ3):c.1031T>C (p.Val344Ala) http://identifiers.org/clinvar/205970 ^@ NM_001204824.1(KCNQ3):c.866C>G (p.Pro289Arg) http://identifiers.org/clinvar/205969 ^@ NM_001204824.1(KCNQ3):c.856G>A (p.Val286Ile) http://identifiers.org/clinvar/205962 ^@ NM_001204824.1(KCNQ3):c.717G>A (p.Val239=) http://identifiers.org/clinvar/205968 ^@ NM_001204824.1(KCNQ3):c.700G>T (p.Gly234Trp) http://identifiers.org/clinvar/205967 ^@ NM_001204824.1(KCNQ3):c.683C>T (p.Ala228Val) http://identifiers.org/clinvar/205966 ^@ NM_001204824.1(KCNQ3):c.557C>T (p.Ala186Val) http://identifiers.org/clinvar/205965 ^@ NM_001204824.1(KCNQ3):c.496G>A (p.Val166Ile) http://identifiers.org/clinvar/205964 ^@ NM_001204824.1(KCNQ3):c.437A>G (p.Tyr146Cys) http://identifiers.org/clinvar/205963 ^@ NM_004519.3(KCNQ3):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/205961 ^@ NM_004519.3(KCNQ3):c.679C>T (p.Arg227Ter) http://identifiers.org/clinvar/205960 ^@ NM_001204824.1(KCNQ3):c.209G>A (p.Arg70Gln) http://identifiers.org/clinvar/206002 ^@ NM_001204824.1(KCNQ3):c.202C>T (p.Arg68Trp) http://identifiers.org/clinvar/205959 ^@ NM_001204824.1(KCNQ3):c.117+5G>A http://identifiers.org/clinvar/205958 ^@ NM_001204824.1(KCNQ3):c.-32977G>C http://identifiers.org/clinvar/205957 ^@ NM_004519.3(KCNQ3):c.225C>G (p.Asp75Glu) http://identifiers.org/clinvar/206000 ^@ NM_004519.3(KCNQ3):c.56_73del18 (p.Gly19_Gly24del) http://identifiers.org/clinvar/206001 ^@ NM_004519.3(KCNQ3):c.63_71dupAGGCGGCGG (p.Gly24_Ala25insGlyGlyGly) http://identifiers.org/clinvar/205999 ^@ NM_004519.3(KCNQ3):c.36_60del25 (p.Gly13Glufs) http://identifiers.org/clinvar/205956 ^@ NM_001204824.1(KCNQ3):c.-33272C>T http://identifiers.org/clinvar/205955 ^@ NM_001204824.1(KCNQ3):c.-33319G>C http://identifiers.org/clinvar/205187 ^@ NM_018941.3(CLN8):c.-122T>G http://identifiers.org/clinvar/205188 ^@ NM_018941.3(CLN8):c.-46C>T http://identifiers.org/clinvar/205189 ^@ NM_018941.3(CLN8):c.-1A>T http://identifiers.org/clinvar/205199 ^@ NM_018941.3(CLN8):c.16G>C (p.Asp6His) http://identifiers.org/clinvar/205200 ^@ NM_018941.3(CLN8):c.17A>G (p.Asp6Gly) http://identifiers.org/clinvar/205201 ^@ NM_018941.3(CLN8):c.50A>G (p.Asp17Gly) http://identifiers.org/clinvar/205202 ^@ NM_018941.3(CLN8):c.53A>T (p.Tyr18Phe) http://identifiers.org/clinvar/205203 ^@ NM_018941.3(CLN8):c.59C>G (p.Ser20Cys) http://identifiers.org/clinvar/205204 ^@ NM_018941.3(CLN8):c.176G>C (p.Arg59Thr) http://identifiers.org/clinvar/205205 ^@ NM_018941.3(CLN8):c.305G>T (p.Trp102Leu) http://identifiers.org/clinvar/205206 ^@ NM_018941.3(CLN8):c.374A>C (p.Asn125Thr) http://identifiers.org/clinvar/205207 ^@ NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) http://identifiers.org/clinvar/205208 ^@ NM_018941.3(CLN8):c.406G>T (p.Val136Phe) http://identifiers.org/clinvar/205209 ^@ NM_018941.3(CLN8):c.488C>T (p.Thr163Met) http://identifiers.org/clinvar/205194 ^@ NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) http://identifiers.org/clinvar/205190 ^@ NM_018941.3(CLN8):c.522C>T (p.Cys174=) http://identifiers.org/clinvar/205186 ^@ NM_018941.3(CLN8):c.546G>A (p.Ala182=) http://identifiers.org/clinvar/205191 ^@ NM_018941.3(CLN8):c.556G>A (p.Glu186Lys) http://identifiers.org/clinvar/205192 ^@ NM_018941.3(CLN8):c.599T>C (p.Met200Thr) http://identifiers.org/clinvar/205193 ^@ NM_018941.3(CLN8):c.623C>A (p.Thr208Asn) http://identifiers.org/clinvar/205195 ^@ NM_018941.3(CLN8):c.725C>T (p.Thr242Met) http://identifiers.org/clinvar/205210 ^@ NM_018941.3(CLN8):c.776A>G (p.Asn259Ser) http://identifiers.org/clinvar/205196 ^@ NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) http://identifiers.org/clinvar/205197 ^@ NM_018941.3(CLN8):c.806A>G (p.Glu269Gly) http://identifiers.org/clinvar/205198 ^@ NM_018941.3(CLN8):c.837G>T (p.Gln279His) http://identifiers.org/clinvar/204977 ^@ NM_000742.3(CHRNA2):c.1568C>T (p.Pro523Leu) http://identifiers.org/clinvar/204976 ^@ NM_000742.3(CHRNA2):c.1531G>C (p.Val511Leu) http://identifiers.org/clinvar/204950 ^@ NM_000742.3(CHRNA2):c.1500C>T (p.Ile500=) http://identifiers.org/clinvar/204986 ^@ NM_000742.3(CHRNA2):c.1498_1500delATC (p.Ile500del) http://identifiers.org/clinvar/204975 ^@ NM_000742.3(CHRNA2):c.1464G>A (p.Ser488=) http://identifiers.org/clinvar/204974 ^@ NM_000742.3(CHRNA2):c.1426A>C (p.Ile476Leu) http://identifiers.org/clinvar/204991 ^@ NM_000742.3(CHRNA2):c.1373G>C (p.Gly458Ala) http://identifiers.org/clinvar/204949 ^@ NM_000742.3(CHRNA2):c.1335G>C (p.Gly445=) http://identifiers.org/clinvar/204948 ^@ NM_000742.3(CHRNA2):c.1222G>C (p.Val408Leu) http://identifiers.org/clinvar/204947 ^@ NM_000742.3(CHRNA2):c.1181G>C (p.Arg394Pro) http://identifiers.org/clinvar/204972 ^@ NM_000742.3(CHRNA2):c.1165C>T (p.Leu389Phe) http://identifiers.org/clinvar/204971 ^@ NM_000742.3(CHRNA2):c.1148C>T (p.Pro383Leu) http://identifiers.org/clinvar/204970 ^@ NM_000742.3(CHRNA2):c.1123C>G (p.Pro375Ala) http://identifiers.org/clinvar/204969 ^@ NM_000742.3(CHRNA2):c.1084A>T (p.Met362Leu) http://identifiers.org/clinvar/204968 ^@ NM_000742.3(CHRNA2):c.1073G>T (p.Ser358Ile) http://identifiers.org/clinvar/204967 ^@ NM_000742.3(CHRNA2):c.1064G>A (p.Arg355His) http://identifiers.org/clinvar/204966 ^@ NM_000742.3(CHRNA2):c.1021C>G (p.Leu341Val) http://identifiers.org/clinvar/204990 ^@ NM_000742.3(CHRNA2):c.987C>T (p.Gly329=) http://identifiers.org/clinvar/204985 ^@ NM_000742.3(CHRNA2):c.887_889delAGA (p.Lys296del) http://identifiers.org/clinvar/204946 ^@ NM_000742.3(CHRNA2):c.745G>A (p.Ala249Thr) http://identifiers.org/clinvar/204965 ^@ NM_000742.3(CHRNA2):c.731A>G (p.Lys244Arg) http://identifiers.org/clinvar/204964 ^@ NM_000742.3(CHRNA2):c.725G>A (p.Ser242Asn) http://identifiers.org/clinvar/204963 ^@ NM_000742.3(CHRNA2):c.710C>A (p.Thr237Lys) http://identifiers.org/clinvar/204962 ^@ NM_000742.3(CHRNA2):c.697A>C (p.Ile233Leu) http://identifiers.org/clinvar/204961 ^@ NM_000742.3(CHRNA2):c.590G>T (p.Cys197Phe) http://identifiers.org/clinvar/204984 ^@ NM_000742.3(CHRNA2):c.557_558delACinsCG (p.Asp186Ala) http://identifiers.org/clinvar/204960 ^@ NM_000742.3(CHRNA2):c.529G>C (p.Ala177Pro) http://identifiers.org/clinvar/204959 ^@ NM_000742.3(CHRNA2):c.503C>T (p.Thr168Met) http://identifiers.org/clinvar/204983 ^@ NM_000742.3(CHRNA2):c.447_449delCAA (p.Asn150del) http://identifiers.org/clinvar/204958 ^@ NM_000742.3(CHRNA2):c.432C>A (p.Asp144Glu) http://identifiers.org/clinvar/204989 ^@ NM_000742.3(CHRNA2):c.402G>C (p.Arg134Ser) http://identifiers.org/clinvar/204988 ^@ NM_000742.3(CHRNA2):c.401G>A (p.Arg134Lys) http://identifiers.org/clinvar/204945 ^@ NM_000742.3(CHRNA2):c.347G>T (p.Ser116Ile) http://identifiers.org/clinvar/204944 ^@ NM_000742.3(CHRNA2):c.339+12_339+13delCC http://identifiers.org/clinvar/204957 ^@ NM_000742.3(CHRNA2):c.307C>A (p.Gln103Lys) http://identifiers.org/clinvar/204943 ^@ NM_000742.3(CHRNA2):c.295-12T>G http://identifiers.org/clinvar/204955 ^@ NM_000742.3(CHRNA2):c.286A>T (p.Ile96Phe) http://identifiers.org/clinvar/204953 ^@ NM_000742.3(CHRNA2):c.221C>T (p.Ala74Val) http://identifiers.org/clinvar/204993 ^@ NM_000742.3(CHRNA2):c.215G>C (p.Arg72Pro) http://identifiers.org/clinvar/204992 ^@ NM_000742.3(CHRNA2):c.212A>G (p.Asn71Ser) http://identifiers.org/clinvar/204982 ^@ NM_000742.3(CHRNA2):c.202C>T (p.Arg68Trp) http://identifiers.org/clinvar/204981 ^@ NM_000742.3(CHRNA2):c.182G>A (p.Arg61Gln) http://identifiers.org/clinvar/204952 ^@ NM_000742.3(CHRNA2):c.173C>T (p.Thr58Ile) http://identifiers.org/clinvar/204980 ^@ NM_000742.3(CHRNA2):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/204979 ^@ NM_000742.3(CHRNA2):c.140C>T (p.Thr47Met) http://identifiers.org/clinvar/204978 ^@ NM_000742.3(CHRNA2):c.121C>T (p.Leu41Phe) http://identifiers.org/clinvar/204987 ^@ NM_000742.3(CHRNA2):c.121delC (p.Leu41Serfs) http://identifiers.org/clinvar/204951 ^@ NM_000742.3(CHRNA2):c.74-17C>A http://identifiers.org/clinvar/207445 ^@ NM_003165.3(STXBP1):c.36G>C (p.Glu12Asp) http://identifiers.org/clinvar/207446 ^@ NM_003165.3(STXBP1):c.37+3A>T http://identifiers.org/clinvar/207401 ^@ NM_003165.3(STXBP1):c.38-16_38-15delCT http://identifiers.org/clinvar/207412 ^@ NM_003165.3(STXBP1):c.87+1G>A http://identifiers.org/clinvar/207413 ^@ NM_003165.3(STXBP1):c.88-2A>C http://identifiers.org/clinvar/207447 ^@ NM_003165.3(STXBP1):c.124delT (p.Ser42Profs) http://identifiers.org/clinvar/207448 ^@ NM_003165.3(STXBP1):c.128_130delCCT (p.Ser43del) http://identifiers.org/clinvar/207402 ^@ NM_003165.3(STXBP1):c.170-9G>T http://identifiers.org/clinvar/207403 ^@ NM_003165.3(STXBP1):c.246+15A>G http://identifiers.org/clinvar/207404 ^@ NM_003165.3(STXBP1):c.250G>A (p.Val84Ile) http://identifiers.org/clinvar/207405 ^@ NM_003165.3(STXBP1):c.281C>T (p.Pro94Leu) http://identifiers.org/clinvar/207458 ^@ NM_003165.3(STXBP1):c.388_389delCT (p.Leu130Aspfs) http://identifiers.org/clinvar/207415 ^@ NM_003165.3(STXBP1):c.416C>T (p.Pro139Leu) http://identifiers.org/clinvar/207406 ^@ NM_003165.3(STXBP1):c.430-9C>T http://identifiers.org/clinvar/207416 ^@ NM_003165.3(STXBP1):c.430-1G>T http://identifiers.org/clinvar/207417 ^@ NM_003165.3(STXBP1):c.568C>T (p.Arg190Trp) http://identifiers.org/clinvar/207418 ^@ NM_003165.3(STXBP1):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/207419 ^@ NM_003165.3(STXBP1):c.578+1G>T http://identifiers.org/clinvar/207449 ^@ NM_003165.3(STXBP1):c.578+1dupG http://identifiers.org/clinvar/207421 ^@ NM_003165.3(STXBP1):c.619G>A (p.Asp207Asn) http://identifiers.org/clinvar/207407 ^@ NM_003165.3(STXBP1):c.681C>G (p.Arg227=) http://identifiers.org/clinvar/207422 ^@ NM_003165.3(STXBP1):c.703C>T (p.Arg235Ter) http://identifiers.org/clinvar/207408 ^@ NM_003165.3(STXBP1):c.807C>T (p.Ser269=) http://identifiers.org/clinvar/207424 ^@ NM_003165.3(STXBP1):c.875G>A (p.Arg292His) http://identifiers.org/clinvar/207450 ^@ NM_003165.3(STXBP1):c.897_898delGT (p.Ser300Profs) http://identifiers.org/clinvar/207425 ^@ NM_003165.3(STXBP1):c.904G>T (p.Glu302Ter) http://identifiers.org/clinvar/207426 ^@ NM_003165.3(STXBP1):c.997A>G (p.Lys333Glu) http://identifiers.org/clinvar/207427 ^@ NM_003165.3(STXBP1):c.1030-1G>T http://identifiers.org/clinvar/207428 ^@ NM_003165.3(STXBP1):c.1061G>A (p.Cys354Tyr) http://identifiers.org/clinvar/207420 ^@ NM_003165.3(STXBP1):c.1093C>T (p.Leu365Phe) http://identifiers.org/clinvar/207429 ^@ NM_003165.3(STXBP1):c.1099C>T (p.Arg367Ter) http://identifiers.org/clinvar/207451 ^@ NM_003165.3(STXBP1):c.1169_1175dupTCGTCCC (p.Ile393Argfs) http://identifiers.org/clinvar/207430 ^@ NM_003165.3(STXBP1):c.1193A>G (p.Asn398Ser) http://identifiers.org/clinvar/207431 ^@ NM_003165.3(STXBP1):c.1216C>T (p.Arg406Cys) http://identifiers.org/clinvar/207409 ^@ NM_003165.3(STXBP1):c.1249+9G>A http://identifiers.org/clinvar/207433 ^@ NM_003165.3(STXBP1):c.1250G>A (p.Gly417Asp) http://identifiers.org/clinvar/207434 ^@ NM_003165.3(STXBP1):c.1256C>T (p.Thr419Met) http://identifiers.org/clinvar/207452 ^@ NM_003165.3(STXBP1):c.1296dupA (p.Pro433Thrfs) http://identifiers.org/clinvar/207435 ^@ NM_003165.3(STXBP1):c.1359+1G>A http://identifiers.org/clinvar/207410 ^@ NM_003165.3(STXBP1):c.1385C>T (p.Pro462Leu) http://identifiers.org/clinvar/207432 ^@ NM_003165.3(STXBP1):c.1439C>T (p.Pro480Leu) http://identifiers.org/clinvar/207460 ^@ NM_003165.3(STXBP1):c.1470delT (p.Ile490Metfs) http://identifiers.org/clinvar/207461 ^@ NM_003165.3(STXBP1):c.1510delA (p.Thr504Profs) http://identifiers.org/clinvar/207437 ^@ NM_003165.3(STXBP1):c.1514G>A (p.Arg505His) http://identifiers.org/clinvar/207411 ^@ NM_003165.3(STXBP1):c.1548-7_1548-4delTTCT http://identifiers.org/clinvar/207453 ^@ NM_003165.3(STXBP1):c.1614_1616delCAT (p.Ile539del) http://identifiers.org/clinvar/207439 ^@ NM_003165.3(STXBP1):c.1651C>A (p.Arg551Ser) http://identifiers.org/clinvar/207440 ^@ NM_003165.3(STXBP1):c.1651C>T (p.Arg551Cys) http://identifiers.org/clinvar/207441 ^@ NM_003165.3(STXBP1):c.1652G>C (p.Arg551Pro) http://identifiers.org/clinvar/207443 ^@ NM_003165.3(STXBP1):c.1672C>T (p.Gln558Ter) http://identifiers.org/clinvar/207444 ^@ NM_003165.3(STXBP1):c.1702+1G>A http://identifiers.org/clinvar/207462 ^@ NM_001032221.3(STXBP1):c.1726delC (p.Gln576Argfs) http://identifiers.org/clinvar/207293 ^@ NM_001130438.2(SPTAN1):c.-34C>G http://identifiers.org/clinvar/207341 ^@ NM_001130438.2(SPTAN1):c.-4G>A http://identifiers.org/clinvar/207256 ^@ NM_001130438.2(SPTAN1):c.237+10A>G http://identifiers.org/clinvar/207311 ^@ NM_001130438.2(SPTAN1):c.368G>A (p.Arg123His) http://identifiers.org/clinvar/207312 ^@ NM_001130438.2(SPTAN1):c.413T>C (p.Met138Thr) http://identifiers.org/clinvar/207257 ^@ NM_001130438.2(SPTAN1):c.416G>A (p.Arg139Gln) http://identifiers.org/clinvar/207313 ^@ NM_001130438.2(SPTAN1):c.615T>A (p.Val205=) http://identifiers.org/clinvar/207314 ^@ NM_001130438.2(SPTAN1):c.641A>G (p.Lys214Arg) http://identifiers.org/clinvar/207258 ^@ NM_001130438.2(SPTAN1):c.785+20T>C http://identifiers.org/clinvar/207259 ^@ NM_001130438.2(SPTAN1):c.862G>C (p.Ala288Pro) http://identifiers.org/clinvar/207260 ^@ NM_001130438.2(SPTAN1):c.943T>C (p.Cys315Arg) http://identifiers.org/clinvar/207315 ^@ NM_001130438.2(SPTAN1):c.959G>A (p.Arg320His) http://identifiers.org/clinvar/207316 ^@ NM_001130438.2(SPTAN1):c.1040G>A (p.Arg347His) http://identifiers.org/clinvar/207261 ^@ NM_001130438.2(SPTAN1):c.1154A>G (p.Asn385Ser) http://identifiers.org/clinvar/207317 ^@ NM_001130438.2(SPTAN1):c.1247G>A (p.Ser416Asn) http://identifiers.org/clinvar/207262 ^@ NM_001130438.2(SPTAN1):c.1348G>T (p.Ala450Ser) http://identifiers.org/clinvar/207318 ^@ NM_001130438.2(SPTAN1):c.1362G>C (p.Glu454Asp) http://identifiers.org/clinvar/207319 ^@ NM_001130438.2(SPTAN1):c.1375C>T (p.Arg459Cys) http://identifiers.org/clinvar/207321 ^@ NM_001130438.2(SPTAN1):c.1621A>G (p.Met541Val) http://identifiers.org/clinvar/207263 ^@ NM_001130438.2(SPTAN1):c.1688T>C (p.Met563Thr) http://identifiers.org/clinvar/207264 ^@ NM_001130438.2(SPTAN1):c.1689G>T (p.Met563Ile) http://identifiers.org/clinvar/207322 ^@ NM_001130438.2(SPTAN1):c.1770T>G (p.Asn590Lys) http://identifiers.org/clinvar/207323 ^@ NM_001130438.2(SPTAN1):c.1799C>A (p.Ala600Asp) http://identifiers.org/clinvar/207265 ^@ NM_001130438.2(SPTAN1):c.1806+4A>G http://identifiers.org/clinvar/207324 ^@ NM_001130438.2(SPTAN1):c.2209A>G (p.Ile737Val) http://identifiers.org/clinvar/207325 ^@ NM_001130438.2(SPTAN1):c.2221G>T (p.Ala741Ser) http://identifiers.org/clinvar/207267 ^@ NM_001130438.2(SPTAN1):c.2233C>A (p.Gln745Lys) http://identifiers.org/clinvar/207268 ^@ NM_001130438.2(SPTAN1):c.2344G>A (p.Asp782Asn) http://identifiers.org/clinvar/207326 ^@ NM_001130438.2(SPTAN1):c.2402G>A (p.Arg801Gln) http://identifiers.org/clinvar/207327 ^@ NM_001130438.2(SPTAN1):c.2422G>A (p.Ala808Thr) http://identifiers.org/clinvar/207328 ^@ NM_001130438.2(SPTAN1):c.2588C>G (p.Ala863Gly) http://identifiers.org/clinvar/207367 ^@ NM_001130438.2(SPTAN1):c.2666_2668delCTC (p.Ser889del) http://identifiers.org/clinvar/207270 ^@ NM_001130438.2(SPTAN1):c.2753A>G (p.Tyr918Cys) http://identifiers.org/clinvar/207271 ^@ NM_001130438.2(SPTAN1):c.2778+20G>A http://identifiers.org/clinvar/207272 ^@ NM_001130438.2(SPTAN1):c.2857G>T (p.Ala953Ser) http://identifiers.org/clinvar/207273 ^@ NM_001130438.2(SPTAN1):c.2861A>C (p.Gln954Pro) http://identifiers.org/clinvar/207274 ^@ NM_001130438.2(SPTAN1):c.2888C>T (p.Thr963Met) http://identifiers.org/clinvar/207275 ^@ NM_001130438.2(SPTAN1):c.3057G>A (p.Ala1019=) http://identifiers.org/clinvar/207329 ^@ NM_001130438.2(SPTAN1):c.3079G>A (p.Ala1027Thr) http://identifiers.org/clinvar/207276 ^@ NM_001130438.2(SPTAN1):c.3118G>A (p.Gly1040Ser) http://identifiers.org/clinvar/207278 ^@ NM_001130438.2(SPTAN1):c.3215+15_3215+16delAG http://identifiers.org/clinvar/207331 ^@ NM_001130438.2(SPTAN1):c.3248G>A (p.Arg1083His) http://identifiers.org/clinvar/207279 ^@ NM_001130438.2(SPTAN1):c.3337G>A (p.Ala1113Thr) http://identifiers.org/clinvar/207332 ^@ NM_001130438.2(SPTAN1):c.3490G>A (p.Ala1164Thr) http://identifiers.org/clinvar/207280 ^@ NM_001130438.2(SPTAN1):c.3518A>C (p.Gln1173Pro) http://identifiers.org/clinvar/207281 ^@ NM_001130438.2(SPTAN1):c.3572C>T (p.Pro1191Leu) http://identifiers.org/clinvar/207282 ^@ NM_001130438.2(SPTAN1):c.3574T>C (p.Trp1192Arg) http://identifiers.org/clinvar/207284 ^@ NM_001130438.2(SPTAN1):c.3664G>T (p.Ala1222Ser) http://identifiers.org/clinvar/207374 ^@ NM_001130438.2(SPTAN1):c.3779A>G (p.Asn1260Ser) http://identifiers.org/clinvar/207333 ^@ NM_001130438.2(SPTAN1):c.3803T>C (p.Val1268Ala) http://identifiers.org/clinvar/207285 ^@ NM_001130438.2(SPTAN1):c.3967A>G (p.Ser1323Gly) http://identifiers.org/clinvar/207286 ^@ NM_001130438.2(SPTAN1):c.4039G>A (p.Asp1347Asn) http://identifiers.org/clinvar/207288 ^@ NM_001130438.2(SPTAN1):c.4046+4C>T http://identifiers.org/clinvar/207334 ^@ NM_001130438.2(SPTAN1):c.4046+5G>A http://identifiers.org/clinvar/207289 ^@ NM_001130438.2(SPTAN1):c.4116C>T (p.Thr1372=) http://identifiers.org/clinvar/207290 ^@ NM_001130438.2(SPTAN1):c.4188G>A (p.Gln1396=) http://identifiers.org/clinvar/207291 ^@ NM_001130438.2(SPTAN1):c.4280G>A (p.Arg1427His) http://identifiers.org/clinvar/207375 ^@ NM_001130438.2(SPTAN1):c.4309C>T (p.Arg1437Cys) http://identifiers.org/clinvar/207336 ^@ NM_001130438.2(SPTAN1):c.4310G>A (p.Arg1437His) http://identifiers.org/clinvar/207337 ^@ NM_001130438.2(SPTAN1):c.4525G>A (p.Asp1509Asn) http://identifiers.org/clinvar/207292 ^@ NM_001130438.2(SPTAN1):c.4527C>A (p.Asp1509Glu) http://identifiers.org/clinvar/207338 ^@ NM_001130438.2(SPTAN1):c.4576C>T (p.Arg1526Cys) http://identifiers.org/clinvar/207339 ^@ NM_001130438.2(SPTAN1):c.4604G>A (p.Arg1535His) http://identifiers.org/clinvar/207294 ^@ NM_001130438.2(SPTAN1):c.4958C>A (p.Ala1653Glu) http://identifiers.org/clinvar/207342 ^@ NM_001130438.2(SPTAN1):c.5171G>T (p.Ser1724Ile) http://identifiers.org/clinvar/207343 ^@ NM_001130438.2(SPTAN1):c.5239A>G (p.Ile1747Val) http://identifiers.org/clinvar/207295 ^@ NM_001130438.2(SPTAN1):c.5350T>C (p.Trp1784Arg) http://identifiers.org/clinvar/207344 ^@ NM_001130438.2(SPTAN1):c.5470G>A (p.Ala1824Thr) http://identifiers.org/clinvar/207376 ^@ NM_001130438.2(SPTAN1):c.5545C>T (p.Arg1849Trp) http://identifiers.org/clinvar/207296 ^@ NM_001130438.2(SPTAN1):c.5648A>G (p.Asn1883Ser) http://identifiers.org/clinvar/207297 ^@ NM_001130438.2(SPTAN1):c.5922G>C (p.Lys1974Asn) http://identifiers.org/clinvar/207346 ^@ NM_001130438.2(SPTAN1):c.6014A>G (p.Lys2005Arg) http://identifiers.org/clinvar/207298 ^@ NM_001130438.2(SPTAN1):c.6055C>A (p.Leu2019Ile) http://identifiers.org/clinvar/207299 ^@ NM_001130438.2(SPTAN1):c.6148G>A (p.Ala2050Thr) http://identifiers.org/clinvar/207300 ^@ NM_001130438.2(SPTAN1):c.6183C>T (p.Ala2061=) http://identifiers.org/clinvar/207301 ^@ NM_001130438.2(SPTAN1):c.6190G>A (p.Ala2064Thr) http://identifiers.org/clinvar/207302 ^@ NM_001130438.2(SPTAN1):c.6193T>C (p.Ser2065Pro) http://identifiers.org/clinvar/207348 ^@ NM_001130438.2(SPTAN1):c.6208T>G (p.Trp2070Gly) http://identifiers.org/clinvar/207303 ^@ NM_001130438.2(SPTAN1):c.6235G>A (p.Ala2079Thr) http://identifiers.org/clinvar/207349 ^@ NM_001130438.2(SPTAN1):c.6270C>A (p.His2090Gln) http://identifiers.org/clinvar/207368 ^@ NM_001130438.2(SPTAN1):c.6273_6274delCCinsTT (p.Arg2092Cys) http://identifiers.org/clinvar/207350 ^@ NM_001130438.2(SPTAN1):c.6308A>G (p.Lys2103Arg) http://identifiers.org/clinvar/207351 ^@ NM_001130438.2(SPTAN1):c.6408G>C (p.Glu2136Asp) http://identifiers.org/clinvar/207352 ^@ NM_001130438.2(SPTAN1):c.6424C>T (p.Arg2142Cys) http://identifiers.org/clinvar/207353 ^@ NM_001130438.2(SPTAN1):c.6425G>A (p.Arg2142His) http://identifiers.org/clinvar/207354 ^@ NM_001130438.2(SPTAN1):c.6488A>G (p.Lys2163Arg) http://identifiers.org/clinvar/207355 ^@ NM_001130438.2(SPTAN1):c.6496C>T (p.Arg2166Cys) http://identifiers.org/clinvar/207356 ^@ NM_001130438.2(SPTAN1):c.6608G>A (p.Arg2203Gln) http://identifiers.org/clinvar/207358 ^@ NM_001130438.2(SPTAN1):c.6794G>C (p.Ser2265Thr) http://identifiers.org/clinvar/207359 ^@ NM_001130438.2(SPTAN1):c.6899A>T (p.Asp2300Val) http://identifiers.org/clinvar/207380 ^@ NM_001130438.2(SPTAN1):c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del) http://identifiers.org/clinvar/207369 ^@ NM_001130438.2(SPTAN1):c.6910_6918dupCAGCTGGGC (p.Gly2306_Met2307insGlnLeuGly) http://identifiers.org/clinvar/207370 ^@ NM_001130438.2(SPTAN1):c.6923_6928dupGCATGC (p.Met2309_Gln2310insArgMet) http://identifiers.org/clinvar/207372 ^@ NM_001130438.2(SPTAN1):c.7014-16_7014-13delinsAGGT http://identifiers.org/clinvar/207361 ^@ NM_001130438.2(SPTAN1):c.7102G>C (p.Glu2368Gln) http://identifiers.org/clinvar/207362 ^@ NM_001130438.2(SPTAN1):c.7121C>G (p.Pro2374Arg) http://identifiers.org/clinvar/207305 ^@ NM_001130438.2(SPTAN1):c.7129G>A (p.Glu2377Lys) http://identifiers.org/clinvar/207306 ^@ NM_001130438.2(SPTAN1):c.7135A>G (p.Ile2379Val) http://identifiers.org/clinvar/207307 ^@ NM_001130438.2(SPTAN1):c.7284C>T (p.Tyr2428=) http://identifiers.org/clinvar/207309 ^@ NM_001130438.2(SPTAN1):c.7309-12_7309-11delCT http://identifiers.org/clinvar/207310 ^@ NM_001130438.2(SPTAN1):c.7319G>A (p.Arg2440Gln) http://identifiers.org/clinvar/207365 ^@ NM_001130438.2(SPTAN1):c.7396G>A (p.Asp2466Asn) http://identifiers.org/clinvar/207366 ^@ NM_001130438.2(SPTAN1):c.7402G>A (p.Val2468Met) http://identifiers.org/clinvar/207622 ^@ NM_000368.4(TSC1):c.3469A>G (p.Asn1157Asp) http://identifiers.org/clinvar/207648 ^@ NM_000368.4(TSC1):c.3311G>T (p.Cys1104Phe) http://identifiers.org/clinvar/207644 ^@ NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) http://identifiers.org/clinvar/207643 ^@ NM_000368.4(TSC1):c.3250T>C (p.Ser1084Pro) http://identifiers.org/clinvar/207642 ^@ NM_000368.4(TSC1):c.3194C>T (p.Thr1065Met) http://identifiers.org/clinvar/207621 ^@ NM_000368.4(TSC1):c.3133C>T (p.Leu1045Phe) http://identifiers.org/clinvar/207641 ^@ NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) http://identifiers.org/clinvar/207640 ^@ NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) http://identifiers.org/clinvar/207620 ^@ NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) http://identifiers.org/clinvar/207639 ^@ NM_000368.4(TSC1):c.3086G>T (p.Ser1029Ile) http://identifiers.org/clinvar/207619 ^@ NM_000368.4(TSC1):c.3086G>A (p.Ser1029Asn) http://identifiers.org/clinvar/207638 ^@ NM_000368.4(TSC1):c.3080G>A (p.Arg1027Gln) http://identifiers.org/clinvar/207637 ^@ NM_000368.4(TSC1):c.2995G>A (p.Gly999Arg) http://identifiers.org/clinvar/207617 ^@ NM_000368.4(TSC1):c.2926A>G (p.Lys976Glu) http://identifiers.org/clinvar/207616 ^@ NM_000368.4(TSC1):c.2392-16A>G http://identifiers.org/clinvar/207636 ^@ NM_000368.4(TSC1):c.2375A>G (p.Gln792Arg) http://identifiers.org/clinvar/207615 ^@ NM_000368.4(TSC1):c.2209-9C>G http://identifiers.org/clinvar/207635 ^@ NM_000368.4(TSC1):c.2171T>C (p.Ile724Thr) http://identifiers.org/clinvar/207614 ^@ NM_000368.4(TSC1):c.2115G>A (p.Glu705=) http://identifiers.org/clinvar/207613 ^@ NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) http://identifiers.org/clinvar/207611 ^@ NM_000368.4(TSC1):c.1808C>T (p.Pro603Leu) http://identifiers.org/clinvar/207610 ^@ NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) http://identifiers.org/clinvar/207609 ^@ NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) http://identifiers.org/clinvar/207652 ^@ NM_000368.4(TSC1):c.1713delA (p.Glu571Aspfs) http://identifiers.org/clinvar/207634 ^@ NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) http://identifiers.org/clinvar/207633 ^@ NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) http://identifiers.org/clinvar/207651 ^@ NM_000368.4(TSC1):c.1509dupT (p.Asp504Terfs) http://identifiers.org/clinvar/207647 ^@ NM_000368.4(TSC1):c.1441delG (p.Ala481Glnfs) http://identifiers.org/clinvar/207650 ^@ NM_000368.4(TSC1):c.1429_1431delAAA (p.Lys477del) http://identifiers.org/clinvar/207632 ^@ NM_000368.4(TSC1):c.1332A>G (p.Ser444=) http://identifiers.org/clinvar/207631 ^@ NM_000368.4(TSC1):c.1109C>T (p.Ser370Leu) http://identifiers.org/clinvar/207608 ^@ NM_000368.4(TSC1):c.1097C>T (p.Pro366Leu) http://identifiers.org/clinvar/207607 ^@ NM_000368.4(TSC1):c.1054G>A (p.Val352Ile) http://identifiers.org/clinvar/207606 ^@ NM_000368.4(TSC1):c.1051A>G (p.Met351Val) http://identifiers.org/clinvar/207630 ^@ NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) http://identifiers.org/clinvar/207629 ^@ NM_000368.4(TSC1):c.898A>G (p.Thr300Ala) http://identifiers.org/clinvar/207627 ^@ NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) http://identifiers.org/clinvar/207646 ^@ NM_000368.4(TSC1):c.737_737+1dupGG http://identifiers.org/clinvar/207645 ^@ NM_000368.4(TSC1):c.587delC (p.Pro196Leufs) http://identifiers.org/clinvar/207626 ^@ NM_000368.4(TSC1):c.365T>C (p.Met122Thr) http://identifiers.org/clinvar/207625 ^@ NM_000368.4(TSC1):c.304T>C (p.Ser102Pro) http://identifiers.org/clinvar/207623 ^@ NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) http://identifiers.org/clinvar/207605 ^@ NM_000368.4(TSC1):c.-20C>T http://identifiers.org/clinvar/207604 ^@ NM_000368.4(TSC1):c.-33C>T http://identifiers.org/clinvar/207603 ^@ NM_000368.4(TSC1):c.-36C>T http://identifiers.org/clinvar/207649 ^@ NM_000368.4(TSC1):c.-144G>A http://identifiers.org/clinvar/206023 ^@ NM_005097.3(LGI1):c.191C>T (p.Thr64Ile) http://identifiers.org/clinvar/206024 ^@ NM_005097.3(LGI1):c.269C>T (p.Thr90Met) http://identifiers.org/clinvar/206025 ^@ NM_005097.3(LGI1):c.272C>T (p.Pro91Leu) http://identifiers.org/clinvar/206026 ^@ NM_005097.3(LGI1):c.294C>A (p.Phe98Leu) http://identifiers.org/clinvar/206021 ^@ NM_005097.3(LGI1):c.504-20A>G http://identifiers.org/clinvar/206022 ^@ NM_005097.3(LGI1):c.600C>T (p.Cys200=) http://identifiers.org/clinvar/206028 ^@ NM_005097.3(LGI1):c.1106C>G (p.Ser369Cys) http://identifiers.org/clinvar/206029 ^@ NM_005097.3(LGI1):c.1108C>T (p.His370Tyr) http://identifiers.org/clinvar/206030 ^@ NM_005097.3(LGI1):c.1274A>C (p.Asp425Ala) http://identifiers.org/clinvar/206031 ^@ NM_005097.3(LGI1):c.1300G>A (p.Ala434Thr) http://identifiers.org/clinvar/206032 ^@ NM_005097.3(LGI1):c.1669G>A (p.Ala557Thr) http://identifiers.org/clinvar/205333 ^@ NM_001909.4(CTSD):c.*11G>A http://identifiers.org/clinvar/205347 ^@ NM_001909.4(CTSD):c.1211T>G (p.Val404Gly) http://identifiers.org/clinvar/205346 ^@ NM_001909.4(CTSD):c.1202A>G (p.Asn401Ser) http://identifiers.org/clinvar/205344 ^@ NM_001909.4(CTSD):c.1150A>G (p.Ile384Val) http://identifiers.org/clinvar/205362 ^@ NM_001909.4(CTSD):c.1028G>A (p.Gly343Glu) http://identifiers.org/clinvar/205342 ^@ NM_001909.4(CTSD):c.982C>G (p.Pro328Ala) http://identifiers.org/clinvar/205332 ^@ NM_001909.4(CTSD):c.957G>A (p.Pro319=) http://identifiers.org/clinvar/205361 ^@ NM_001909.4(CTSD):c.956C>T (p.Pro319Leu) http://identifiers.org/clinvar/205341 ^@ NM_001909.4(CTSD):c.928G>A (p.Glu310Lys) http://identifiers.org/clinvar/205360 ^@ NM_001909.4(CTSD):c.926G>A (p.Arg309His) http://identifiers.org/clinvar/205340 ^@ NM_001909.4(CTSD):c.877A>C (p.Ile293Leu) http://identifiers.org/clinvar/205331 ^@ NM_001909.4(CTSD):c.828-14_828-13delCT http://identifiers.org/clinvar/205359 ^@ NM_001909.4(CTSD):c.796C>T (p.Arg266Cys) http://identifiers.org/clinvar/205358 ^@ NM_001909.4(CTSD):c.758A>G (p.Lys253Arg) http://identifiers.org/clinvar/205357 ^@ NM_001909.4(CTSD):c.751G>A (p.Asp251Asn) http://identifiers.org/clinvar/205339 ^@ NM_001909.4(CTSD):c.630C>T (p.Asn210=) http://identifiers.org/clinvar/205356 ^@ NM_001909.4(CTSD):c.561C>T (p.Gly187=) http://identifiers.org/clinvar/205338 ^@ NM_001909.4(CTSD):c.497C>T (p.Ala166Val) http://identifiers.org/clinvar/205352 ^@ NM_001909.4(CTSD):c.443C>T (p.Ser148Phe) http://identifiers.org/clinvar/205351 ^@ NM_001909.4(CTSD):c.376G>A (p.Asp126Asn) http://identifiers.org/clinvar/205363 ^@ NM_001909.4(CTSD):c.299C>T (p.Ser100Phe) http://identifiers.org/clinvar/205350 ^@ NM_001909.4(CTSD):c.262C>G (p.Pro88Ala) http://identifiers.org/clinvar/205349 ^@ NM_001909.4(CTSD):c.241G>A (p.Gly81Arg) http://identifiers.org/clinvar/205336 ^@ NM_001909.4(CTSD):c.216G>A (p.Lys72=) http://identifiers.org/clinvar/205335 ^@ NM_001909.4(CTSD):c.154G>A (p.Val52Ile) http://identifiers.org/clinvar/205348 ^@ NM_001909.4(CTSD):c.100C>T (p.Arg34Trp) http://identifiers.org/clinvar/205334 ^@ NM_001909.4(CTSD):c.69-17C>T http://identifiers.org/clinvar/205354 ^@ NM_001909.4(CTSD):c.52G>C (p.Ala18Pro) http://identifiers.org/clinvar/205337 ^@ NM_001909.4(CTSD):c.14G>C (p.Ser5Thr) http://identifiers.org/clinvar/205353 ^@ NM_001909.4(CTSD):c.8C>T (p.Pro3Leu) http://identifiers.org/clinvar/207597 ^@ NM_000391.3(TPP1):c.1664C>A (p.Ala555Asp) http://identifiers.org/clinvar/207602 ^@ NM_000391.3(TPP1):c.1610G>A (p.Cys537Tyr) http://identifiers.org/clinvar/207595 ^@ NM_000391.3(TPP1):c.1543C>T (p.Leu515Phe) http://identifiers.org/clinvar/207594 ^@ NM_000391.3(TPP1):c.1526A>G (p.Gln509Arg) http://identifiers.org/clinvar/207593 ^@ NM_000391.3(TPP1):c.1402A>C (p.Ile468Leu) http://identifiers.org/clinvar/207556 ^@ NM_000391.3(TPP1):c.1393A>G (p.Arg465Gly) http://identifiers.org/clinvar/207555 ^@ NM_000391.3(TPP1):c.1383G>A (p.Val461=) http://identifiers.org/clinvar/207592 ^@ NM_000391.3(TPP1):c.1331C>A (p.Ala444Asp) http://identifiers.org/clinvar/207601 ^@ NM_000391.3(TPP1):c.1303C>G (p.His435Asp) http://identifiers.org/clinvar/207591 ^@ NM_000391.3(TPP1):c.1289T>A (p.Leu430Gln) http://identifiers.org/clinvar/207590 ^@ NM_000391.3(TPP1):c.1280C>T (p.Thr427Met) http://identifiers.org/clinvar/207589 ^@ NM_000391.3(TPP1):c.1217A>G (p.Tyr406Cys) http://identifiers.org/clinvar/207588 ^@ NM_000391.3(TPP1):c.1181A>G (p.Gln394Arg) http://identifiers.org/clinvar/207587 ^@ NM_000391.3(TPP1):c.1138G>A (p.Ala380Thr) http://identifiers.org/clinvar/207586 ^@ NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp) http://identifiers.org/clinvar/207554 ^@ NM_000391.3(TPP1):c.1002C>T (p.Ser334=) http://identifiers.org/clinvar/207585 ^@ NM_000391.3(TPP1):c.992C>T (p.Ser331Phe) http://identifiers.org/clinvar/207584 ^@ NM_000391.3(TPP1):c.890G>A (p.Arg297Gln) http://identifiers.org/clinvar/207583 ^@ NM_000391.3(TPP1):c.845G>A (p.Ser282Asn) http://identifiers.org/clinvar/207582 ^@ NM_000391.3(TPP1):c.833A>G (p.Gln278Arg) http://identifiers.org/clinvar/207581 ^@ NM_000391.3(TPP1):c.827A>T (p.Asp276Val) http://identifiers.org/clinvar/207580 ^@ NM_000391.3(TPP1):c.797G>A (p.Arg266Gln) http://identifiers.org/clinvar/207600 ^@ NM_000391.3(TPP1):c.796C>T (p.Arg266Trp) http://identifiers.org/clinvar/207579 ^@ NM_000391.3(TPP1):c.776G>A (p.Arg259His) http://identifiers.org/clinvar/207553 ^@ NM_000391.3(TPP1):c.688-7T>A http://identifiers.org/clinvar/207578 ^@ NM_000391.3(TPP1):c.638C>T (p.Ser213Leu) http://identifiers.org/clinvar/207577 ^@ NM_000391.3(TPP1):c.553C>T (p.Arg185Cys) http://identifiers.org/clinvar/207552 ^@ NM_000391.3(TPP1):c.532C>G (p.Pro178Ala) http://identifiers.org/clinvar/207576 ^@ NM_000391.3(TPP1):c.524G>A (p.Arg175His) http://identifiers.org/clinvar/207575 ^@ NM_000391.3(TPP1):c.520C>T (p.His174Tyr) http://identifiers.org/clinvar/207574 ^@ NM_000391.3(TPP1):c.509-1G>A http://identifiers.org/clinvar/207572 ^@ NM_000391.3(TPP1):c.473A>C (p.Gln158Pro) http://identifiers.org/clinvar/207571 ^@ NM_000391.3(TPP1):c.425T>G (p.Val142Gly) http://identifiers.org/clinvar/207570 ^@ NM_000391.3(TPP1):c.404G>A (p.Gly135Glu) http://identifiers.org/clinvar/207569 ^@ NM_000391.3(TPP1):c.379C>T (p.Arg127Ter) http://identifiers.org/clinvar/207568 ^@ NM_000391.3(TPP1):c.319G>A (p.Gly107Arg) http://identifiers.org/clinvar/207561 ^@ NM_000391.3(TPP1):c.311T>A (p.Leu104Ter) http://identifiers.org/clinvar/207551 ^@ NM_000391.3(TPP1):c.260A>G (p.Asp87Gly) http://identifiers.org/clinvar/207567 ^@ NM_000391.3(TPP1):c.229G>C (p.Gly77Arg) http://identifiers.org/clinvar/207550 ^@ NM_000391.3(TPP1):c.228C>T (p.Tyr76=) http://identifiers.org/clinvar/207549 ^@ NM_000391.3(TPP1):c.216C>A (p.Ser72Arg) http://identifiers.org/clinvar/207566 ^@ NM_000391.3(TPP1):c.200C>G (p.Ala67Gly) http://identifiers.org/clinvar/207565 ^@ NM_000391.3(TPP1):c.197A>T (p.Gln66Leu) http://identifiers.org/clinvar/207564 ^@ NM_000391.3(TPP1):c.196C>T (p.Gln66Ter) http://identifiers.org/clinvar/207563 ^@ NM_000391.3(TPP1):c.138G>T (p.Glu46Asp) http://identifiers.org/clinvar/207562 ^@ NM_000391.3(TPP1):c.128C>G (p.Pro43Arg) http://identifiers.org/clinvar/207560 ^@ NM_000391.3(TPP1):c.101G>A (p.Gly34Asp) http://identifiers.org/clinvar/207599 ^@ NM_000391.3(TPP1):c.89+5G>C http://identifiers.org/clinvar/207559 ^@ NM_000391.3(TPP1):c.65G>A (p.Ser22Asn) http://identifiers.org/clinvar/207598 ^@ NM_000391.3(TPP1):c.37C>T (p.Leu13Phe) http://identifiers.org/clinvar/207558 ^@ NM_000391.3(TPP1):c.7C>A (p.Leu3Ile) http://identifiers.org/clinvar/207557 ^@ NM_000391.3(TPP1):c.-40T>C http://identifiers.org/clinvar/205452 ^@ NM_016725.2(FOLR1):c.13A>G (p.Met5Val) http://identifiers.org/clinvar/205453 ^@ NM_016725.2(FOLR1):c.281C>G (p.Pro94Arg) http://identifiers.org/clinvar/205455 ^@ NM_016725.2(FOLR1):c.412G>A (p.Asp138Asn) http://identifiers.org/clinvar/205451 ^@ NM_016725.2(FOLR1):c.489T>C (p.Thr163=) http://identifiers.org/clinvar/205460 ^@ NM_016725.2(FOLR1):c.508G>A (p.Ala170Thr) http://identifiers.org/clinvar/205457 ^@ NM_016725.2(FOLR1):c.694G>A (p.Ala232Thr) http://identifiers.org/clinvar/205459 ^@ NM_016725.2(FOLR1):c.724T>A (p.Trp242Arg) http://identifiers.org/clinvar/207155 ^@ NM_024698.5(SLC25A22):c.*20C>A http://identifiers.org/clinvar/207173 ^@ NM_024698.5(SLC25A22):c.874G>A (p.Ala292Thr) http://identifiers.org/clinvar/207154 ^@ NM_024698.5(SLC25A22):c.743-15G>A http://identifiers.org/clinvar/207174 ^@ NM_024698.5(SLC25A22):c.735_736delCT (p.Cys246Terfs) http://identifiers.org/clinvar/207171 ^@ NM_024698.5(SLC25A22):c.704C>T (p.Ala235Val) http://identifiers.org/clinvar/207170 ^@ NM_024698.5(SLC25A22):c.679G>A (p.Val227Met) http://identifiers.org/clinvar/207169 ^@ NM_024698.5(SLC25A22):c.562A>G (p.Lys188Glu) http://identifiers.org/clinvar/207168 ^@ NM_024698.5(SLC25A22):c.551C>G (p.Ala184Gly) http://identifiers.org/clinvar/207177 ^@ NM_024698.5(SLC25A22):c.548T>C (p.Ile183Thr) http://identifiers.org/clinvar/207176 ^@ NM_024698.5(SLC25A22):c.541C>T (p.Arg181Cys) http://identifiers.org/clinvar/207167 ^@ NM_024698.5(SLC25A22):c.524G>T (p.Arg175Leu) http://identifiers.org/clinvar/207153 ^@ NM_024698.5(SLC25A22):c.500G>A (p.Arg167Gln) http://identifiers.org/clinvar/207152 ^@ NM_024698.5(SLC25A22):c.464G>C (p.Gly155Ala) http://identifiers.org/clinvar/207151 ^@ NM_024698.5(SLC25A22):c.414C>T (p.Ala138=) http://identifiers.org/clinvar/207166 ^@ NM_024698.5(SLC25A22):c.391C>A (p.Leu131Met) http://identifiers.org/clinvar/207165 ^@ NM_024698.5(SLC25A22):c.307C>G (p.Leu103Val) http://identifiers.org/clinvar/207150 ^@ NM_024698.5(SLC25A22):c.294-14C>T http://identifiers.org/clinvar/207164 ^@ NM_024698.5(SLC25A22):c.292G>A (p.Gly98Arg) http://identifiers.org/clinvar/207162 ^@ NM_024698.5(SLC25A22):c.284C>G (p.Ser95Cys) http://identifiers.org/clinvar/207157 ^@ NM_024698.5(SLC25A22):c.267C>G (p.Phe89Leu) http://identifiers.org/clinvar/207163 ^@ NM_024698.5(SLC25A22):c.146+2_146+3delTG http://identifiers.org/clinvar/207161 ^@ NM_024698.5(SLC25A22):c.140C>T (p.Thr47Met) http://identifiers.org/clinvar/207149 ^@ NM_024698.5(SLC25A22):c.133G>A (p.Val45Met) http://identifiers.org/clinvar/207160 ^@ NM_024698.5(SLC25A22):c.130C>T (p.Arg44Cys) http://identifiers.org/clinvar/207159 ^@ NM_024698.5(SLC25A22):c.124G>A (p.Gly42Ser) http://identifiers.org/clinvar/207148 ^@ NM_024698.5(SLC25A22):c.75C>T (p.Cys25=) http://identifiers.org/clinvar/207158 ^@ NM_024698.5(SLC25A22):c.64G>A (p.Gly22Ser) http://identifiers.org/clinvar/207147 ^@ NM_001191061.1(SLC25A22):c.20+17dupG http://identifiers.org/clinvar/207156 ^@ NM_024698.5(SLC25A22):c.-165C>T http://identifiers.org/clinvar/207175 ^@ NM_024698.5(SLC25A22):c.-174C>T http://identifiers.org/clinvar/205726 ^@ NM_000834.3(GRIN2B):c.4400G>C (p.Gly1467Ala) http://identifiers.org/clinvar/205725 ^@ NM_000834.3(GRIN2B):c.4355C>T (p.Ser1452Phe) http://identifiers.org/clinvar/205724 ^@ NM_000834.3(GRIN2B):c.4066G>A (p.Val1356Met) http://identifiers.org/clinvar/205732 ^@ NM_000834.3(GRIN2B):c.3799G>T (p.Ala1267Ser) http://identifiers.org/clinvar/205722 ^@ NM_000834.3(GRIN2B):c.3797C>T (p.Pro1266Leu) http://identifiers.org/clinvar/205720 ^@ NM_000834.3(GRIN2B):c.3747C>T (p.Gly1249=) http://identifiers.org/clinvar/205719 ^@ NM_000834.3(GRIN2B):c.3745G>T (p.Gly1249Cys) http://identifiers.org/clinvar/205703 ^@ NM_000834.3(GRIN2B):c.3552C>T (p.Gly1184=) http://identifiers.org/clinvar/205718 ^@ NM_000834.3(GRIN2B):c.3241C>A (p.Arg1081Ser) http://identifiers.org/clinvar/205717 ^@ NM_000834.3(GRIN2B):c.3099C>G (p.Ser1033Arg) http://identifiers.org/clinvar/205716 ^@ NM_000834.3(GRIN2B):c.3076G>A (p.Gly1026Ser) http://identifiers.org/clinvar/205715 ^@ NM_000834.3(GRIN2B):c.3047G>A (p.Arg1016Lys) http://identifiers.org/clinvar/205714 ^@ NM_000834.3(GRIN2B):c.2936A>T (p.Asn979Ile) http://identifiers.org/clinvar/205713 ^@ NM_000834.3(GRIN2B):c.2931C>G (p.Asp977Glu) http://identifiers.org/clinvar/205721 ^@ NM_000834.3(GRIN2B):c.2589delC (p.Ile864Serfs) http://identifiers.org/clinvar/205710 ^@ NM_000834.3(GRIN2B):c.1858G>A (p.Val620Met) http://identifiers.org/clinvar/205702 ^@ NM_000834.3(GRIN2B):c.1780+8C>T http://identifiers.org/clinvar/205729 ^@ NM_000834.3(GRIN2B):c.1768G>A (p.Ala590Thr) http://identifiers.org/clinvar/205728 ^@ NM_000834.3(GRIN2B):c.1745C>G (p.Pro582Arg) http://identifiers.org/clinvar/205701 ^@ NM_000834.3(GRIN2B):c.812C>A (p.Ala271Glu) http://identifiers.org/clinvar/205700 ^@ NM_000834.3(GRIN2B):c.291G>A (p.Val97=) http://identifiers.org/clinvar/205707 ^@ NM_000834.3(GRIN2B):c.190G>A (p.Val64Met) http://identifiers.org/clinvar/205708 ^@ NM_000834.3(GRIN2B):c.140A>G (p.Glu47Gly) http://identifiers.org/clinvar/205727 ^@ NM_000834.3(GRIN2B):c.125T>C (p.Val42Ala) http://identifiers.org/clinvar/205706 ^@ NM_000834.3(GRIN2B):c.61G>A (p.Val21Met) http://identifiers.org/clinvar/205705 ^@ NM_000834.3(GRIN2B):c.52G>A (p.Val18Ile) http://identifiers.org/clinvar/205704 ^@ NM_000834.3(GRIN2B):c.-10C>T http://identifiers.org/clinvar/205699 ^@ NM_000834.3(GRIN2B):c.-18-10G>C http://identifiers.org/clinvar/206656 ^@ NM_153026.2(PRICKLE1):c.2404C>T (p.Pro802Ser) http://identifiers.org/clinvar/206655 ^@ NM_153026.2(PRICKLE1):c.2269G>A (p.Glu757Lys) http://identifiers.org/clinvar/206673 ^@ NM_153026.2(PRICKLE1):c.2224G>A (p.Gly742Ser) http://identifiers.org/clinvar/206672 ^@ NM_153026.2(PRICKLE1):c.2167G>A (p.Ala723Thr) http://identifiers.org/clinvar/206654 ^@ NM_153026.2(PRICKLE1):c.1985A>G (p.Asn662Ser) http://identifiers.org/clinvar/206676 ^@ NM_153026.2(PRICKLE1):c.1888C>G (p.Gln630Glu) http://identifiers.org/clinvar/206671 ^@ NM_153026.2(PRICKLE1):c.1676C>T (p.Ser559Leu) http://identifiers.org/clinvar/206653 ^@ NM_153026.2(PRICKLE1):c.1639+3A>G http://identifiers.org/clinvar/206670 ^@ NM_153026.2(PRICKLE1):c.1547G>C (p.Trp516Ser) http://identifiers.org/clinvar/206669 ^@ NM_153026.2(PRICKLE1):c.1516G>A (p.Ala506Thr) http://identifiers.org/clinvar/206667 ^@ NM_153026.2(PRICKLE1):c.1360G>A (p.Glu454Lys) http://identifiers.org/clinvar/206666 ^@ NM_153026.2(PRICKLE1):c.1222T>C (p.Trp408Arg) http://identifiers.org/clinvar/206665 ^@ NM_153026.2(PRICKLE1):c.1198G>C (p.Glu400Gln) http://identifiers.org/clinvar/206664 ^@ NM_153026.2(PRICKLE1):c.1145G>A (p.Arg382Lys) http://identifiers.org/clinvar/206663 ^@ NM_153026.2(PRICKLE1):c.910A>G (p.Lys304Glu) http://identifiers.org/clinvar/206662 ^@ NM_153026.2(PRICKLE1):c.713T>C (p.Phe238Ser) http://identifiers.org/clinvar/206660 ^@ NM_153026.2(PRICKLE1):c.425C>T (p.Ala142Val) http://identifiers.org/clinvar/206652 ^@ NM_153026.2(PRICKLE1):c.391T>G (p.Leu131Val) http://identifiers.org/clinvar/206659 ^@ NM_153026.2(PRICKLE1):c.132G>A (p.Gln44=) http://identifiers.org/clinvar/206658 ^@ NM_153026.2(PRICKLE1):c.113C>T (p.Pro38Leu) http://identifiers.org/clinvar/206657 ^@ NM_153026.2(PRICKLE1):c.25A>G (p.Met9Val) http://identifiers.org/clinvar/206674 ^@ NM_153026.2(PRICKLE1):c.8delT (p.Leu3Trpfs) http://identifiers.org/clinvar/207103 ^@ NM_014191.3(SCN8A):c.-67C>T http://identifiers.org/clinvar/207137 ^@ NM_014191.3(SCN8A):c.134G>A (p.Arg45Gln) http://identifiers.org/clinvar/207138 ^@ NM_014191.3(SCN8A):c.331G>A (p.Ala111Thr) http://identifiers.org/clinvar/207139 ^@ NM_014191.3(SCN8A):c.457A>C (p.Asn153His) http://identifiers.org/clinvar/207140 ^@ NM_014191.3(SCN8A):c.614C>A (p.Ala205Glu) http://identifiers.org/clinvar/207145 ^@ NM_014191.3(SCN8A):c.619A>G (p.Ile207Val) http://identifiers.org/clinvar/207104 ^@ NM_014191.3(SCN8A):c.657A>G (p.Leu219=) http://identifiers.org/clinvar/207095 ^@ NM_014191.3(SCN8A):c.751C>T (p.Leu251=) http://identifiers.org/clinvar/207141 ^@ NM_014191.3(SCN8A):c.817T>C (p.Phe273Leu) http://identifiers.org/clinvar/207105 ^@ NM_014191.3(SCN8A):c.1099A>G (p.Met367Val) http://identifiers.org/clinvar/207096 ^@ NM_014191.3(SCN8A):c.1470A>G (p.Glu490=) http://identifiers.org/clinvar/207097 ^@ NM_014191.3(SCN8A):c.1509C>A (p.Leu503=) http://identifiers.org/clinvar/207107 ^@ NM_014191.3(SCN8A):c.1707G>C (p.Arg569Ser) http://identifiers.org/clinvar/207146 ^@ NM_014191.3(SCN8A):c.1962_1982del21 (p.Pro655_Gly661del) http://identifiers.org/clinvar/207108 ^@ NM_014191.3(SCN8A):c.1984C>T (p.Arg662Cys) http://identifiers.org/clinvar/207098 ^@ NM_014191.3(SCN8A):c.2475C>A (p.Val825=) http://identifiers.org/clinvar/207109 ^@ NM_014191.3(SCN8A):c.2534C>T (p.Ser845Phe) http://identifiers.org/clinvar/207142 ^@ NM_014191.3(SCN8A):c.3148G>A (p.Gly1050Ser) http://identifiers.org/clinvar/207112 ^@ NM_014191.3(SCN8A):c.3356C>T (p.Pro1119Leu) http://identifiers.org/clinvar/207113 ^@ NM_014191.3(SCN8A):c.3503G>A (p.Arg1168Gln) http://identifiers.org/clinvar/207114 ^@ NM_014191.3(SCN8A):c.3640G>A (p.Ala1214Thr) http://identifiers.org/clinvar/207115 ^@ NM_014191.3(SCN8A):c.3722A>G (p.Tyr1241Cys) http://identifiers.org/clinvar/207116 ^@ NM_014191.3(SCN8A):c.3769G>A (p.Val1257Ile) http://identifiers.org/clinvar/207117 ^@ NM_014191.3(SCN8A):c.3955G>T (p.Ala1319Ser) http://identifiers.org/clinvar/207099 ^@ NM_014191.3(SCN8A):c.3966C>T (p.Gly1322=) http://identifiers.org/clinvar/207100 ^@ NM_014191.3(SCN8A):c.3999G>A (p.Val1333=) http://identifiers.org/clinvar/207101 ^@ NM_014191.3(SCN8A):c.4218T>C (p.Leu1406=) http://identifiers.org/clinvar/207119 ^@ NM_014191.3(SCN8A):c.4423G>A (p.Gly1475Arg) http://identifiers.org/clinvar/207120 ^@ NM_014191.3(SCN8A):c.4435A>G (p.Ile1479Val) http://identifiers.org/clinvar/207121 ^@ NM_014191.3(SCN8A):c.4438T>C (p.Phe1480Leu) http://identifiers.org/clinvar/207123 ^@ NM_014191.3(SCN8A):c.4472C>T (p.Ala1491Val) http://identifiers.org/clinvar/207143 ^@ NM_014191.3(SCN8A):c.4719G>A (p.Met1573Ile) http://identifiers.org/clinvar/207144 ^@ NM_014191.3(SCN8A):c.4780A>C (p.Ile1594Leu) http://identifiers.org/clinvar/207124 ^@ NM_014191.3(SCN8A):c.4798A>G (p.Met1600Val) http://identifiers.org/clinvar/207126 ^@ NM_014191.3(SCN8A):c.4936A>T (p.Met1646Leu) http://identifiers.org/clinvar/207127 ^@ NM_014191.3(SCN8A):c.4949C>T (p.Ala1650Val) http://identifiers.org/clinvar/207128 ^@ NM_014191.3(SCN8A):c.5035G>A (p.Glu1679Lys) http://identifiers.org/clinvar/207129 ^@ NM_014191.3(SCN8A):c.5417G>A (p.Cys1806Tyr) http://identifiers.org/clinvar/207130 ^@ NM_014191.3(SCN8A):c.5555C>T (p.Thr1852Ile) http://identifiers.org/clinvar/207102 ^@ NM_014191.3(SCN8A):c.5601G>A (p.Gln1867=) http://identifiers.org/clinvar/207131 ^@ NM_014191.3(SCN8A):c.5614C>T (p.Arg1872Trp) http://identifiers.org/clinvar/207132 ^@ NM_014191.3(SCN8A):c.5615G>T (p.Arg1872Leu) http://identifiers.org/clinvar/207133 ^@ NM_014191.3(SCN8A):c.5761A>C (p.Thr1921Pro) http://identifiers.org/clinvar/207134 ^@ NM_014191.3(SCN8A):c.5795G>C (p.Arg1932Pro) http://identifiers.org/clinvar/207135 ^@ NM_014191.3(SCN8A):c.5809A>C (p.Ser1937Arg) http://identifiers.org/clinvar/207136 ^@ NM_014191.3(SCN8A):c.5879G>A (p.Arg1960Gln) http://identifiers.org/clinvar/205134 ^@ NM_006493.2(CLN5):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/205121 ^@ NM_006493.2(CLN5):c.5G>C (p.Arg2Pro) http://identifiers.org/clinvar/205135 ^@ NM_006493.2(CLN5):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/205122 ^@ NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) http://identifiers.org/clinvar/205123 ^@ NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) http://identifiers.org/clinvar/205136 ^@ NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) http://identifiers.org/clinvar/205138 ^@ NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) http://identifiers.org/clinvar/205124 ^@ NM_006493.2(CLN5):c.116C>G (p.Ser39Trp) http://identifiers.org/clinvar/205139 ^@ NM_006493.2(CLN5):c.127G>A (p.Gly43Arg) http://identifiers.org/clinvar/205125 ^@ NM_006493.2(CLN5):c.152C>T (p.Ala51Val) http://identifiers.org/clinvar/205126 ^@ NM_006493.2(CLN5):c.200_205dupGCGCGG (p.Ala68_Ala69insGlyAla) http://identifiers.org/clinvar/205141 ^@ NM_006493.2(CLN5):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/205127 ^@ NM_006493.2(CLN5):c.223T>C (p.Trp75Arg) http://identifiers.org/clinvar/205128 ^@ NM_006493.2(CLN5):c.227G>A (p.Cys76Tyr) http://identifiers.org/clinvar/205142 ^@ NM_006493.2(CLN5):c.253G>C (p.Ala85Pro) http://identifiers.org/clinvar/205129 ^@ NM_006493.2(CLN5):c.412G>A (p.Asp138Asn) http://identifiers.org/clinvar/205143 ^@ NM_006493.2(CLN5):c.518G>A (p.Ser173Asn) http://identifiers.org/clinvar/205144 ^@ NM_006493.2(CLN5):c.595C>T (p.Arg199Ter) http://identifiers.org/clinvar/205145 ^@ NM_006493.2(CLN5):c.606G>A (p.Met202Ile) http://identifiers.org/clinvar/205137 ^@ NM_006493.2(CLN5):c.634G>A (p.Ala212Thr) http://identifiers.org/clinvar/205146 ^@ NM_006493.2(CLN5):c.673A>G (p.Lys225Glu) http://identifiers.org/clinvar/205147 ^@ NM_006493.2(CLN5):c.716A>G (p.Asn239Ser) http://identifiers.org/clinvar/205130 ^@ NM_006493.2(CLN5):c.809G>A (p.Gly270Glu) http://identifiers.org/clinvar/205116 ^@ NM_006493.2(CLN5):c.899A>G (p.Asn300Ser) http://identifiers.org/clinvar/205131 ^@ NM_006493.2(CLN5):c.922A>G (p.Ile308Val) http://identifiers.org/clinvar/205132 ^@ NM_006493.2(CLN5):c.1032C>G (p.Phe344Leu) http://identifiers.org/clinvar/205133 ^@ NM_006493.2(CLN5):c.1166A>C (p.Lys389Thr) http://identifiers.org/clinvar/205148 ^@ NM_006493.2(CLN5):c.1214_1215delCT (p.Ser405Trpfs) http://identifiers.org/clinvar/205461 ^@ NM_005249.4(FOXG1):c.132C>A (p.His44Gln) http://identifiers.org/clinvar/205496 ^@ NM_005249.4(FOXG1):c.136dupC (p.Gln46Profs) http://identifiers.org/clinvar/205462 ^@ NM_005249.4(FOXG1):c.153_161delCCACCACCA (p.His55_His57del) http://identifiers.org/clinvar/205463 ^@ NM_005249.4(FOXG1):c.162T>C (p.His54=) http://identifiers.org/clinvar/205464 ^@ NM_005249.4(FOXG1):c.165C>T (p.His55=) http://identifiers.org/clinvar/205465 ^@ NM_005249.4(FOXG1):c.181C>T (p.Pro61Ser) http://identifiers.org/clinvar/205466 ^@ NM_005249.4(FOXG1):c.182_208del27 (p.Pro61_Pro69del) http://identifiers.org/clinvar/205504 ^@ NM_005249.4(FOXG1):c.188C>G (p.Pro63Arg) http://identifiers.org/clinvar/205467 ^@ NM_005249.4(FOXG1):c.189G>T (p.Pro63=) http://identifiers.org/clinvar/205505 ^@ NM_005249.4(FOXG1):c.202C>T (p.Pro68Ser) http://identifiers.org/clinvar/205480 ^@ NM_005249.4(FOXG1):c.217C>T (p.Gln73Ter) http://identifiers.org/clinvar/205468 ^@ NM_005249.4(FOXG1):c.221C>A (p.Pro74Gln) http://identifiers.org/clinvar/205511 ^@ NM_005249.4(FOXG1):c.225_226delGCinsACCG (p.Pro77Argfs) http://identifiers.org/clinvar/205500 ^@ NM_005249.4(FOXG1):c.239dupC (p.Ala81Glyfs) http://identifiers.org/clinvar/205469 ^@ NM_005249.4(FOXG1):c.245C>A (p.Pro82Gln) http://identifiers.org/clinvar/205501 ^@ NM_005249.4(FOXG1):c.327_332dupGCCACC (p.Pro112_Ala113insProPro) http://identifiers.org/clinvar/205470 ^@ NM_005249.4(FOXG1):c.344C>T (p.Ala115Val) http://identifiers.org/clinvar/205481 ^@ NM_005249.4(FOXG1):c.355G>T (p.Ala119Ser) http://identifiers.org/clinvar/205471 ^@ NM_005249.4(FOXG1):c.376G>A (p.Gly126Ser) http://identifiers.org/clinvar/205502 ^@ NM_005249.4(FOXG1):c.383dupG (p.Glu129Argfs) http://identifiers.org/clinvar/205472 ^@ NM_005249.4(FOXG1):c.386_397dupAGCCGGGCGGCG (p.Gly132_Gly133insGluProGlyGly) http://identifiers.org/clinvar/205503 ^@ NM_005249.4(FOXG1):c.399delG (p.Pro134Argfs) http://identifiers.org/clinvar/205473 ^@ NM_005249.4(FOXG1):c.432G>C (p.Glu144Asp) http://identifiers.org/clinvar/205482 ^@ NM_005249.4(FOXG1):c.455G>A (p.Gly152Glu) http://identifiers.org/clinvar/205474 ^@ NM_005249.4(FOXG1):c.503G>C (p.Gly168Ala) http://identifiers.org/clinvar/205483 ^@ NM_005249.4(FOXG1):c.503G>T (p.Gly168Val) http://identifiers.org/clinvar/205506 ^@ NM_005249.4(FOXG1):c.506G>C (p.Gly169Ala) http://identifiers.org/clinvar/205484 ^@ NM_005249.4(FOXG1):c.545C>T (p.Pro182Leu) http://identifiers.org/clinvar/205485 ^@ NM_005249.4(FOXG1):c.561C>A (p.Asn187Lys) http://identifiers.org/clinvar/205486 ^@ NM_005249.4(FOXG1):c.586C>T (p.Gln196Ter) http://identifiers.org/clinvar/205475 ^@ NM_005249.4(FOXG1):c.594C>G (p.Pro198=) http://identifiers.org/clinvar/205487 ^@ NM_005249.4(FOXG1):c.651C>G (p.Tyr217Ter) http://identifiers.org/clinvar/205488 ^@ NM_005249.4(FOXG1):c.667C>T (p.Gln223Ter) http://identifiers.org/clinvar/205507 ^@ NM_005249.4(FOXG1):c.671G>A (p.Gly224Asp) http://identifiers.org/clinvar/205492 ^@ NM_005249.4(FOXG1):c.708C>A (p.Asn236Lys) http://identifiers.org/clinvar/205493 ^@ NM_005249.4(FOXG1):c.812G>A (p.Gly271Asp) http://identifiers.org/clinvar/205494 ^@ NM_005249.4(FOXG1):c.844G>A (p.Ala282Thr) http://identifiers.org/clinvar/205495 ^@ NM_005249.4(FOXG1):c.880T>C (p.Ser294Pro) http://identifiers.org/clinvar/205497 ^@ NM_005249.4(FOXG1):c.1045T>G (p.Ser349Ala) http://identifiers.org/clinvar/205476 ^@ NM_005249.4(FOXG1):c.1273T>C (p.Ser425Pro) http://identifiers.org/clinvar/205477 ^@ NM_005249.4(FOXG1):c.1278G>A (p.Met426Ile) http://identifiers.org/clinvar/205498 ^@ NM_005249.4(FOXG1):c.1375T>G (p.Ser459Ala) http://identifiers.org/clinvar/205478 ^@ NM_005249.4(FOXG1):c.1399C>T (p.Leu467=) http://identifiers.org/clinvar/205512 ^@ NM_005249.4(FOXG1):c.1402_1405delTCTG (p.Ser468Glyfs) http://identifiers.org/clinvar/205499 ^@ NM_005249.4(FOXG1):c.1439A>G (p.Gln480Arg) http://identifiers.org/clinvar/205619 ^@ NM_001482.2(GATM):c.1151A>G (p.Glu384Gly) http://identifiers.org/clinvar/205618 ^@ NM_001482.2(GATM):c.1105C>T (p.Arg369Cys) http://identifiers.org/clinvar/205609 ^@ NM_001482.2(GATM):c.1042+3A>G http://identifiers.org/clinvar/205608 ^@ NM_001482.2(GATM):c.1030A>G (p.Ile344Val) http://identifiers.org/clinvar/205605 ^@ NM_001482.2(GATM):c.979-11dupT http://identifiers.org/clinvar/205617 ^@ NM_001482.2(GATM):c.778C>T (p.Arg260Ter) http://identifiers.org/clinvar/205624 ^@ NM_001482.2(GATM):c.701A>G (p.Asp234Gly) http://identifiers.org/clinvar/205616 ^@ NM_001482.2(GATM):c.692C>G (p.Ser231Cys) http://identifiers.org/clinvar/205623 ^@ NM_001482.2(GATM):c.616C>T (p.Arg206Cys) http://identifiers.org/clinvar/205615 ^@ NM_001482.2(GATM):c.592T>G (p.Ser198Ala) http://identifiers.org/clinvar/205614 ^@ NM_001482.2(GATM):c.519A>G (p.Ile173Met) http://identifiers.org/clinvar/205613 ^@ NM_001482.2(GATM):c.407C>T (p.Thr136Met) http://identifiers.org/clinvar/205612 ^@ NM_001482.2(GATM):c.282G>A (p.Glu94=) http://identifiers.org/clinvar/205611 ^@ NM_001482.2(GATM):c.279C>G (p.Ile93Met) http://identifiers.org/clinvar/205610 ^@ NM_001482.2(GATM):c.277A>G (p.Ile93Val) http://identifiers.org/clinvar/205620 ^@ NM_001482.2(GATM):c.145T>C (p.Ser49Pro) http://identifiers.org/clinvar/205621 ^@ NM_001482.2(GATM):c.7C>G (p.Arg3Gly) http://identifiers.org/clinvar/205178 ^@ NM_017882.2(CLN6):c.809T>C (p.Leu270Pro) http://identifiers.org/clinvar/205157 ^@ NM_017882.2(CLN6):c.799G>A (p.Ala267Thr) http://identifiers.org/clinvar/205182 ^@ NM_017882.2(CLN6):c.794_796delCCT (p.Ser265del) http://identifiers.org/clinvar/205177 ^@ NM_017882.2(CLN6):c.767A>G (p.Asp256Gly) http://identifiers.org/clinvar/205176 ^@ NM_017882.2(CLN6):c.755G>A (p.Arg252His) http://identifiers.org/clinvar/205175 ^@ NM_017882.2(CLN6):c.749G>A (p.Arg250His) http://identifiers.org/clinvar/205174 ^@ NM_017882.2(CLN6):c.728C>T (p.Ala243Val) http://identifiers.org/clinvar/205173 ^@ NM_017882.2(CLN6):c.706T>G (p.Phe236Val) http://identifiers.org/clinvar/205171 ^@ NM_017882.2(CLN6):c.665+1G>A http://identifiers.org/clinvar/205170 ^@ NM_017882.2(CLN6):c.486+2T>C http://identifiers.org/clinvar/205168 ^@ NM_017882.2(CLN6):c.363C>G (p.Ile121Met) http://identifiers.org/clinvar/205167 ^@ NM_017882.2(CLN6):c.357C>G (p.Ile119Met) http://identifiers.org/clinvar/205166 ^@ NM_017882.2(CLN6):c.322C>G (p.Leu108Val) http://identifiers.org/clinvar/205165 ^@ NM_017882.2(CLN6):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/205156 ^@ NM_017882.2(CLN6):c.297+19delC http://identifiers.org/clinvar/205164 ^@ NM_017882.2(CLN6):c.297+1G>A http://identifiers.org/clinvar/205163 ^@ NM_017882.2(CLN6):c.285T>A (p.Phe95Leu) http://identifiers.org/clinvar/205183 ^@ NM_017882.2(CLN6):c.278C>T (p.Thr93Met) http://identifiers.org/clinvar/205154 ^@ NM_017882.2(CLN6):c.270C>T (p.Asn90=) http://identifiers.org/clinvar/205162 ^@ NM_017882.2(CLN6):c.255C>G (p.Phe85Leu) http://identifiers.org/clinvar/205161 ^@ NM_017882.2(CLN6):c.136G>A (p.Asp46Asn) http://identifiers.org/clinvar/205153 ^@ NM_017882.2(CLN6):c.116G>A (p.Arg39His) http://identifiers.org/clinvar/205152 ^@ NM_017882.2(CLN6):c.100G>A (p.Ala34Thr) http://identifiers.org/clinvar/205160 ^@ NM_017882.2(CLN6):c.66C>T (p.Ala22=) http://identifiers.org/clinvar/205181 ^@ NM_017882.2(CLN6):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/205159 ^@ NM_017882.2(CLN6):c.63C>T (p.Gly21=) http://identifiers.org/clinvar/205180 ^@ NM_017882.2(CLN6):c.49G>A (p.Gly17Ser) http://identifiers.org/clinvar/205179 ^@ NM_017882.2(CLN6):c.5A>G (p.Glu2Gly) http://identifiers.org/clinvar/205185 ^@ NM_017882.2(CLN6):c.4G>A (p.Glu2Lys) http://identifiers.org/clinvar/205158 ^@ NM_017882.2(CLN6):c.-5C>T http://identifiers.org/clinvar/206491 ^@ NM_002693.2(POLG):c.*12G>A http://identifiers.org/clinvar/206490 ^@ NM_002693.2(POLG):c.3701G>A (p.Arg1234Gln) http://identifiers.org/clinvar/206489 ^@ NM_002693.2(POLG):c.3652C>T (p.Leu1218=) http://identifiers.org/clinvar/206575 ^@ NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) http://identifiers.org/clinvar/206488 ^@ NM_002693.2(POLG):c.3644-14G>C http://identifiers.org/clinvar/206571 ^@ NM_002693.2(POLG):c.3586G>A (p.Asp1196Asn) http://identifiers.org/clinvar/206570 ^@ NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) http://identifiers.org/clinvar/206569 ^@ NM_002693.2(POLG):c.3516C>G (p.Asp1172Glu) http://identifiers.org/clinvar/206568 ^@ NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) http://identifiers.org/clinvar/206617 ^@ NM_002693.2(POLG):c.3497A>G (p.Tyr1166Cys) http://identifiers.org/clinvar/206616 ^@ NM_002693.2(POLG):c.3488T>C (p.Met1163Thr) http://identifiers.org/clinvar/206615 ^@ NM_002693.2(POLG):c.3487A>G (p.Met1163Val) http://identifiers.org/clinvar/206565 ^@ NM_002693.2(POLG):c.3470A>G (p.Asn1157Ser) http://identifiers.org/clinvar/206477 ^@ NM_002693.2(POLG):c.3450C>T (p.Ala1150=) http://identifiers.org/clinvar/206564 ^@ NM_002693.2(POLG):c.3443G>A (p.Arg1148His) http://identifiers.org/clinvar/206558 ^@ NM_002693.2(POLG):c.3406G>A (p.Glu1136Lys) http://identifiers.org/clinvar/206563 ^@ NM_002693.2(POLG):c.3382C>T (p.Arg1128Cys) http://identifiers.org/clinvar/206562 ^@ NM_002693.2(POLG):c.3347T>C (p.Met1116Thr) http://identifiers.org/clinvar/206561 ^@ NM_002693.2(POLG):c.3346A>G (p.Met1116Val) http://identifiers.org/clinvar/206614 ^@ NM_002693.2(POLG):c.3325T>G (p.Leu1109Val) http://identifiers.org/clinvar/206475 ^@ NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) http://identifiers.org/clinvar/206560 ^@ NM_002693.2(POLG):c.3313G>C (p.Ala1105Pro) http://identifiers.org/clinvar/206559 ^@ NM_002693.2(POLG):c.3287G>T (p.Arg1096Leu) http://identifiers.org/clinvar/206557 ^@ NM_002693.2(POLG):c.3287G>A (p.Arg1096His) http://identifiers.org/clinvar/206556 ^@ NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) http://identifiers.org/clinvar/206555 ^@ NM_002693.2(POLG):c.3286C>G (p.Arg1096Gly) http://identifiers.org/clinvar/206553 ^@ NM_002693.2(POLG):c.3239G>C (p.Ser1080Thr) http://identifiers.org/clinvar/206552 ^@ NM_002693.2(POLG):c.3215C>G (p.Thr1072Ser) http://identifiers.org/clinvar/206551 ^@ NM_002693.2(POLG):c.3212G>A (p.Arg1071His) http://identifiers.org/clinvar/206549 ^@ NM_002693.2(POLG):c.3176A>T (p.Asn1059Ile) http://identifiers.org/clinvar/206473 ^@ NM_002693.2(POLG):c.3167A>C (p.Glu1056Ala) http://identifiers.org/clinvar/206548 ^@ NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) http://identifiers.org/clinvar/206547 ^@ NM_002693.2(POLG):c.3122G>C (p.Trp1041Ser) http://identifiers.org/clinvar/206472 ^@ NM_002693.2(POLG):c.3105-16_3105-15delGT http://identifiers.org/clinvar/206471 ^@ NM_002693.2(POLG):c.3104+8C>A http://identifiers.org/clinvar/206470 ^@ NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) http://identifiers.org/clinvar/206612 ^@ NM_002693.2(POLG):c.3077G>A (p.Arg1026His) http://identifiers.org/clinvar/206546 ^@ NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) http://identifiers.org/clinvar/206469 ^@ NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys) http://identifiers.org/clinvar/206544 ^@ NM_002693.2(POLG):c.2987G>A (p.Arg996Gln) http://identifiers.org/clinvar/206543 ^@ NM_002693.2(POLG):c.2986C>T (p.Arg996Trp) http://identifiers.org/clinvar/206542 ^@ NM_002693.2(POLG):c.2982-6C>A http://identifiers.org/clinvar/206541 ^@ NM_002693.2(POLG):c.2978G>A (p.Arg993His) http://identifiers.org/clinvar/206540 ^@ NM_002693.2(POLG):c.2915G>A (p.Arg972Gln) http://identifiers.org/clinvar/206539 ^@ NM_002693.2(POLG):c.2914C>T (p.Arg972Trp) http://identifiers.org/clinvar/206537 ^@ NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) http://identifiers.org/clinvar/206536 ^@ NM_002693.2(POLG):c.2840A>G (p.Lys947Arg) http://identifiers.org/clinvar/206535 ^@ NM_002693.2(POLG):c.2830G>A (p.Glu944Lys) http://identifiers.org/clinvar/206607 ^@ NM_002693.2(POLG):c.2800_2801delAA (p.Lys934Aspfs) http://identifiers.org/clinvar/206533 ^@ NM_002693.2(POLG):c.2749G>A (p.Gly917Arg) http://identifiers.org/clinvar/206611 ^@ NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) http://identifiers.org/clinvar/206532 ^@ NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) http://identifiers.org/clinvar/206531 ^@ NM_002693.2(POLG):c.2620T>A (p.Leu874Met) http://identifiers.org/clinvar/206530 ^@ NM_002693.2(POLG):c.2561C>A (p.Ala854Asp) http://identifiers.org/clinvar/206529 ^@ NM_002693.2(POLG):c.2558G>A (p.Arg853Gln) http://identifiers.org/clinvar/206528 ^@ NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) http://identifiers.org/clinvar/206527 ^@ NM_002693.2(POLG):c.2529A>G (p.Gln843=) http://identifiers.org/clinvar/206526 ^@ NM_002693.2(POLG):c.2496T>G (p.Asp832Glu) http://identifiers.org/clinvar/206467 ^@ NM_002693.2(POLG):c.2481-6C>T http://identifiers.org/clinvar/206466 ^@ NM_002693.2(POLG):c.2480+17G>A http://identifiers.org/clinvar/206525 ^@ NM_002693.2(POLG):c.2474T>C (p.Val825Ala) http://identifiers.org/clinvar/206524 ^@ NM_002693.2(POLG):c.2467C>T (p.Arg823Cys) http://identifiers.org/clinvar/206465 ^@ NM_002693.2(POLG):c.2427-12C>G http://identifiers.org/clinvar/206523 ^@ NM_002693.2(POLG):c.2420G>A (p.Arg807His) http://identifiers.org/clinvar/206632 ^@ NM_002693.2(POLG):c.2395delT (p.Ser799Leufs) http://identifiers.org/clinvar/206464 ^@ NM_002693.2(POLG):c.2392A>C (p.Ile798Leu) http://identifiers.org/clinvar/206522 ^@ NM_002693.2(POLG):c.2368C>T (p.Arg790Cys) http://identifiers.org/clinvar/206463 ^@ NM_002693.2(POLG):c.2266-19C>T http://identifiers.org/clinvar/206521 ^@ NM_002693.2(POLG):c.2252A>G (p.Lys751Arg) http://identifiers.org/clinvar/206520 ^@ NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) http://identifiers.org/clinvar/206519 ^@ NM_002693.2(POLG):c.2218A>G (p.Asn740Asp) http://identifiers.org/clinvar/206518 ^@ NM_002693.2(POLG):c.2215T>C (p.Tyr739His) http://identifiers.org/clinvar/206516 ^@ NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) http://identifiers.org/clinvar/206515 ^@ NM_002693.2(POLG):c.2195A>G (p.Tyr732Cys) http://identifiers.org/clinvar/206514 ^@ NM_002693.2(POLG):c.2177A>G (p.Lys726Arg) http://identifiers.org/clinvar/206513 ^@ NM_002693.2(POLG):c.2165G>T (p.Arg722Leu) http://identifiers.org/clinvar/206512 ^@ NM_002693.2(POLG):c.2146C>T (p.Pro716Ser) http://identifiers.org/clinvar/206511 ^@ NM_002693.2(POLG):c.2145A>T (p.Gln715His) http://identifiers.org/clinvar/206510 ^@ NM_002693.2(POLG):c.2101G>A (p.Ala701Thr) http://identifiers.org/clinvar/206509 ^@ NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) http://identifiers.org/clinvar/206610 ^@ NM_002693.2(POLG):c.2071-8T>A http://identifiers.org/clinvar/206508 ^@ NM_002693.2(POLG):c.2059A>G (p.Ile687Val) http://identifiers.org/clinvar/206507 ^@ NM_002693.2(POLG):c.2051A>G (p.Asn684Ser) http://identifiers.org/clinvar/206506 ^@ NM_002693.2(POLG):c.2026G>A (p.Ala676Thr) http://identifiers.org/clinvar/206462 ^@ NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) http://identifiers.org/clinvar/206505 ^@ NM_002693.2(POLG):c.2008C>T (p.Pro670Ser) http://identifiers.org/clinvar/206504 ^@ NM_002693.2(POLG):c.1997A>T (p.Gln666Leu) http://identifiers.org/clinvar/206461 ^@ NM_002693.2(POLG):c.1950-9T>C http://identifiers.org/clinvar/206606 ^@ NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) http://identifiers.org/clinvar/206503 ^@ NM_002693.2(POLG):c.1904C>T (p.Pro635Leu) http://identifiers.org/clinvar/206605 ^@ NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) http://identifiers.org/clinvar/206604 ^@ NM_002693.2(POLG):c.1889A>G (p.Asn630Ser) http://identifiers.org/clinvar/206502 ^@ NM_002693.2(POLG):c.1883G>A (p.Arg628Gln) http://identifiers.org/clinvar/206603 ^@ NM_002693.2(POLG):c.1868T>G (p.Leu623Trp) http://identifiers.org/clinvar/206602 ^@ NM_002693.2(POLG):c.1808T>C (p.Met603Thr) http://identifiers.org/clinvar/206601 ^@ NM_002693.2(POLG):c.1744G>A (p.Asp582Asn) http://identifiers.org/clinvar/206600 ^@ NM_002693.2(POLG):c.1716G>A (p.Trp572Ter) http://identifiers.org/clinvar/206501 ^@ NM_002693.2(POLG):c.1674C>G (p.Leu558=) http://identifiers.org/clinvar/206634 ^@ NM_002693.2(POLG):c.1612_1613delGAinsTT (p.Glu538Leu) http://identifiers.org/clinvar/206500 ^@ NM_002693.2(POLG):c.1599C>G (p.Cys533Trp) http://identifiers.org/clinvar/206598 ^@ NM_002693.2(POLG):c.1591G>A (p.Gly531Ser) http://identifiers.org/clinvar/206631 ^@ NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) http://identifiers.org/clinvar/206499 ^@ NM_002693.2(POLG):c.1515G>A (p.Lys505=) http://identifiers.org/clinvar/206609 ^@ NM_002693.2(POLG):c.1509_1510delGAinsTG (p.Lys504Glu) http://identifiers.org/clinvar/206597 ^@ NM_002693.2(POLG):c.1493A>C (p.Lys498Thr) http://identifiers.org/clinvar/206630 ^@ NM_002693.2(POLG):c.1403A>G (p.Asn468Ser) http://identifiers.org/clinvar/206596 ^@ NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) http://identifiers.org/clinvar/206595 ^@ NM_002693.2(POLG):c.1385C>T (p.Ser462Leu) http://identifiers.org/clinvar/206633 ^@ NM_002693.2(POLG):c.1381_1382delAAinsTC (p.Lys461Ser) http://identifiers.org/clinvar/206594 ^@ NM_002693.2(POLG):c.1369C>T (p.Arg457Trp) http://identifiers.org/clinvar/206593 ^@ NM_002693.2(POLG):c.1328G>A (p.Arg443His) http://identifiers.org/clinvar/206629 ^@ NM_002693.2(POLG):c.1315C>G (p.Gln439Glu) http://identifiers.org/clinvar/206498 ^@ NM_002693.2(POLG):c.1311C>T (p.Val437=) http://identifiers.org/clinvar/206592 ^@ NM_002693.2(POLG):c.1300T>C (p.Tyr434His) http://identifiers.org/clinvar/206608 ^@ NM_002693.2(POLG):c.1270_1271delCT (p.Leu424Glyfs) http://identifiers.org/clinvar/206590 ^@ NM_002693.2(POLG):c.1250+5G>T http://identifiers.org/clinvar/206589 ^@ NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) http://identifiers.org/clinvar/206627 ^@ NM_002693.2(POLG):c.1118C>T (p.Pro373Leu) http://identifiers.org/clinvar/206626 ^@ NM_002693.2(POLG):c.1060A>G (p.Asn354Asp) http://identifiers.org/clinvar/206497 ^@ NM_002693.2(POLG):c.1023+13T>G http://identifiers.org/clinvar/206588 ^@ NM_002693.2(POLG):c.915C>G (p.Ser305Arg) http://identifiers.org/clinvar/206587 ^@ NM_002693.2(POLG):c.863G>A (p.Arg288His) http://identifiers.org/clinvar/206586 ^@ NM_002693.2(POLG):c.862C>T (p.Arg288Cys) http://identifiers.org/clinvar/206496 ^@ NM_002693.2(POLG):c.856-5_856-3delCTC http://identifiers.org/clinvar/206584 ^@ NM_002693.2(POLG):c.855G>C (p.Gln285His) http://identifiers.org/clinvar/206566 ^@ NM_002693.2(POLG):c.833T>C (p.Ile278Thr) http://identifiers.org/clinvar/206583 ^@ NM_002693.2(POLG):c.830A>T (p.His277Leu) http://identifiers.org/clinvar/206582 ^@ NM_002693.2(POLG):c.719C>T (p.Ser240Leu) http://identifiers.org/clinvar/206581 ^@ NM_002693.2(POLG):c.678G>C (p.Gln226His) http://identifiers.org/clinvar/206494 ^@ NM_002693.2(POLG):c.659+11G>T http://identifiers.org/clinvar/206580 ^@ NM_002693.2(POLG):c.609G>C (p.Leu203Phe) http://identifiers.org/clinvar/206493 ^@ NM_002693.2(POLG):c.581C>T (p.Ala194Val) http://identifiers.org/clinvar/206624 ^@ NM_002693.2(POLG):c.577C>T (p.Arg193Trp) http://identifiers.org/clinvar/206623 ^@ NM_002693.2(POLG):c.565A>G (p.Ile189Val) http://identifiers.org/clinvar/206622 ^@ NM_002693.2(POLG):c.520G>A (p.Gly174Ser) http://identifiers.org/clinvar/206579 ^@ NM_002693.2(POLG):c.488C>T (p.Pro163Leu) http://identifiers.org/clinvar/206578 ^@ NM_002693.2(POLG):c.460G>A (p.Ala154Thr) http://identifiers.org/clinvar/206621 ^@ NM_002693.2(POLG):c.418C>T (p.Arg140Cys) http://identifiers.org/clinvar/206576 ^@ NM_002693.2(POLG):c.408C>G (p.Asp136Glu) http://identifiers.org/clinvar/206492 ^@ NM_002693.2(POLG):c.391T>C (p.Tyr131His) http://identifiers.org/clinvar/206620 ^@ NM_002693.2(POLG):c.346C>T (p.Pro116Ser) http://identifiers.org/clinvar/206619 ^@ NM_002693.2(POLG):c.328C>T (p.His110Tyr) http://identifiers.org/clinvar/206567 ^@ NM_002693.2(POLG):c.215A>G (p.Asn72Ser) http://identifiers.org/clinvar/206486 ^@ NM_002693.2(POLG):c.155_166delAGCAACAGCAGC (p.Gln52_Gln55del) http://identifiers.org/clinvar/206487 ^@ NM_002693.2(POLG):c.162G>A (p.Gln54=) http://identifiers.org/clinvar/206483 ^@ NM_002693.2(POLG):c.157_159dupCAA (p.Gln55_Pro56insGln) http://identifiers.org/clinvar/206484 ^@ NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln) http://identifiers.org/clinvar/206481 ^@ NM_002693.2(POLG):c.150_158delGCAGCAGCA (p.Gln53_Gln55del) http://identifiers.org/clinvar/206482 ^@ NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln) http://identifiers.org/clinvar/206480 ^@ NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del) http://identifiers.org/clinvar/206479 ^@ NM_002693.2(POLG):c.144_158delGCAGCAGCAGCAGCA (p.Gln51_Gln55del) http://identifiers.org/clinvar/206478 ^@ NM_002693.2(POLG):c.141_158del18 (p.Gln50_Gln55del) http://identifiers.org/clinvar/206485 ^@ NM_002693.2(POLG):c.154C>A (p.Gln52Lys) http://identifiers.org/clinvar/206476 ^@ NM_002693.2(POLG):c.125G>A (p.Arg42Gln) http://identifiers.org/clinvar/206474 ^@ NM_002693.2(POLG):c.116A>G (p.Gln39Arg) http://identifiers.org/clinvar/206554 ^@ NM_002693.2(POLG):c.98C>G (p.Ser33Cys) http://identifiers.org/clinvar/206550 ^@ NM_002693.2(POLG):c.86C>G (p.Ser29Cys) http://identifiers.org/clinvar/206468 ^@ NM_002693.2(POLG):c.-21G>T http://identifiers.org/clinvar/206625 ^@ NM_002693.2(POLG):c.-170T>A http://identifiers.org/clinvar/206585 ^@ NM_002693.2(POLG):c.-172C>A http://identifiers.org/clinvar/206495 ^@ NM_001126131.1(POLG):c.-174_-173delAGinsCC http://identifiers.org/clinvar/205640 ^@ NM_000833.4(GRIN2A):c.225C>T (p.Asn75=) http://identifiers.org/clinvar/205648 ^@ NM_000833.4(GRIN2A):c.136G>A (p.Val46Met) http://identifiers.org/clinvar/205647 ^@ NM_000833.4(GRIN2A):c.76G>T (p.Ala26Ser) http://identifiers.org/clinvar/205637 ^@ NM_000833.4(GRIN2A):c.-209-11C>T http://identifiers.org/clinvar/207701 ^@ NM_000548.4(TSC2):c.-38C>T http://identifiers.org/clinvar/207767 ^@ NM_000548.4(TSC2):c.-30+1G>C http://identifiers.org/clinvar/207788 ^@ NM_000548.4(TSC2):c.-30+2T>C http://identifiers.org/clinvar/207789 ^@ NM_000548.4(TSC2):c.32delT (p.Leu11Terfs) http://identifiers.org/clinvar/207654 ^@ NM_000548.4(TSC2):c.101A>C (p.Lys34Thr) http://identifiers.org/clinvar/207655 ^@ NM_000548.4(TSC2):c.106A>G (p.Thr36Ala) http://identifiers.org/clinvar/207778 ^@ NM_000548.4(TSC2):c.132A>G (p.Ile44Met) http://identifiers.org/clinvar/207736 ^@ NM_000548.4(TSC2):c.152A>C (p.Glu51Ala) http://identifiers.org/clinvar/207740 ^@ NM_000548.4(TSC2):c.213G>T (p.Lys71Asn) http://identifiers.org/clinvar/207787 ^@ NM_000548.4(TSC2):c.226C>T (p.His76Tyr) http://identifiers.org/clinvar/207698 ^@ NM_000548.4(TSC2):c.325G>A (p.Val109Met) http://identifiers.org/clinvar/207699 ^@ NM_000548.4(TSC2):c.339C>T (p.Gly113=) http://identifiers.org/clinvar/207700 ^@ NM_000548.4(TSC2):c.431A>G (p.Lys144Arg) http://identifiers.org/clinvar/207702 ^@ NM_000548.4(TSC2):c.577G>A (p.Glu193Lys) http://identifiers.org/clinvar/207703 ^@ NM_000548.4(TSC2):c.583A>G (p.Ile195Val) http://identifiers.org/clinvar/207704 ^@ NM_000548.4(TSC2):c.599+17G>C http://identifiers.org/clinvar/207768 ^@ NM_000548.4(TSC2):c.663G>A (p.Val221=) http://identifiers.org/clinvar/207769 ^@ NM_000548.4(TSC2):c.710C>T (p.Pro237Leu) http://identifiers.org/clinvar/207705 ^@ NM_000548.4(TSC2):c.716T>G (p.Phe239Cys) http://identifiers.org/clinvar/207770 ^@ NM_000548.4(TSC2):c.727C>T (p.Leu243Phe) http://identifiers.org/clinvar/207771 ^@ NM_000548.4(TSC2):c.782G>A (p.Arg261Gln) http://identifiers.org/clinvar/207653 ^@ NM_000548.4(TSC2):c.1059C>T (p.Leu353=) http://identifiers.org/clinvar/207710 ^@ NM_000548.4(TSC2):c.1081C>G (p.Leu361Val) http://identifiers.org/clinvar/207711 ^@ NM_000548.4(TSC2):c.1096G>A (p.Glu366Lys) http://identifiers.org/clinvar/207656 ^@ NM_000548.4(TSC2):c.1131C>T (p.Ser377=) http://identifiers.org/clinvar/207657 ^@ NM_000548.4(TSC2):c.1257+14C>T http://identifiers.org/clinvar/207712 ^@ NM_000548.4(TSC2):c.1258G>T (p.Glu420Ter) http://identifiers.org/clinvar/207708 ^@ NM_000548.4(TSC2):c.1292C>T (p.Ala431Val) http://identifiers.org/clinvar/207713 ^@ NM_000548.4(TSC2):c.1307C>T (p.Pro436Leu) http://identifiers.org/clinvar/207658 ^@ NM_000548.4(TSC2):c.1365C>T (p.Ser455=) http://identifiers.org/clinvar/207715 ^@ NM_000548.4(TSC2):c.1381G>A (p.Val461Met) http://identifiers.org/clinvar/207716 ^@ NM_000548.4(TSC2):c.1477C>T (p.Leu493Phe) http://identifiers.org/clinvar/207717 ^@ NM_000548.4(TSC2):c.1534C>G (p.Leu512Val) http://identifiers.org/clinvar/207772 ^@ NM_000548.4(TSC2):c.1535_1557del23 (p.Leu512Profs) http://identifiers.org/clinvar/207659 ^@ NM_000548.4(TSC2):c.1577G>C (p.Ser526Thr) http://identifiers.org/clinvar/207718 ^@ NM_000548.4(TSC2):c.1594G>A (p.Glu532Lys) http://identifiers.org/clinvar/207660 ^@ NM_000548.4(TSC2):c.1599+19G>A http://identifiers.org/clinvar/207661 ^@ NM_000548.4(TSC2):c.1600-14C>A http://identifiers.org/clinvar/207719 ^@ NM_000548.4(TSC2):c.1610G>A (p.Arg537His) http://identifiers.org/clinvar/207720 ^@ NM_000548.4(TSC2):c.1661C>T (p.Ser554Leu) http://identifiers.org/clinvar/207662 ^@ NM_000548.4(TSC2):c.1717-15G>T http://identifiers.org/clinvar/207663 ^@ NM_000548.4(TSC2):c.1751C>T (p.Thr584Met) http://identifiers.org/clinvar/207721 ^@ NM_000548.4(TSC2):c.1766T>A (p.Met589Lys) http://identifiers.org/clinvar/207722 ^@ NM_000548.4(TSC2):c.1796A>G (p.Lys599Arg) http://identifiers.org/clinvar/207664 ^@ NM_000548.4(TSC2):c.1839+20G>C http://identifiers.org/clinvar/207723 ^@ NM_000548.4(TSC2):c.1915C>T (p.Arg639Trp) http://identifiers.org/clinvar/207724 ^@ NM_000548.4(TSC2):c.1916G>A (p.Arg639Gln) http://identifiers.org/clinvar/207779 ^@ NM_000548.4(TSC2):c.1946+2T>A http://identifiers.org/clinvar/207665 ^@ NM_000548.4(TSC2):c.2018C>T (p.Ala673Val) http://identifiers.org/clinvar/207666 ^@ NM_000548.4(TSC2):c.2049C>T (p.Ser683=) http://identifiers.org/clinvar/207725 ^@ NM_000548.4(TSC2):c.2072G>T (p.Arg691Leu) http://identifiers.org/clinvar/207781 ^@ NM_000548.4(TSC2):c.2092A>G (p.Lys698Glu) http://identifiers.org/clinvar/207667 ^@ NM_000548.4(TSC2):c.2097+13G>A http://identifiers.org/clinvar/207668 ^@ NM_000548.4(TSC2):c.2220+11C>T http://identifiers.org/clinvar/207726 ^@ NM_000548.4(TSC2):c.2237C>T (p.Thr746Ile) http://identifiers.org/clinvar/207727 ^@ NM_000548.4(TSC2):c.2246G>A (p.Arg749Gln) http://identifiers.org/clinvar/207669 ^@ NM_000548.4(TSC2):c.2287C>T (p.His763Tyr) http://identifiers.org/clinvar/207728 ^@ NM_000548.4(TSC2):c.2348C>G (p.Thr783Ser) http://identifiers.org/clinvar/207670 ^@ NM_000548.4(TSC2):c.2356-15T>A http://identifiers.org/clinvar/207729 ^@ NM_000548.4(TSC2):c.2356-5T>G http://identifiers.org/clinvar/207782 ^@ NM_000548.4(TSC2):c.2357G>A (p.Arg786His) http://identifiers.org/clinvar/207671 ^@ NM_000548.4(TSC2):c.2416G>A (p.Val806Met) http://identifiers.org/clinvar/207730 ^@ NM_000548.4(TSC2):c.2424G>T (p.Leu808Phe) http://identifiers.org/clinvar/207773 ^@ NM_000548.4(TSC2):c.2491dupA (p.Thr831Asnfs) http://identifiers.org/clinvar/207672 ^@ NM_000548.4(TSC2):c.2539C>T (p.Leu847=) http://identifiers.org/clinvar/207733 ^@ NM_000548.4(TSC2):c.2639+1G>A http://identifiers.org/clinvar/207734 ^@ NM_000548.4(TSC2):c.2678T>C (p.Ile893Thr) http://identifiers.org/clinvar/207783 ^@ NM_000548.4(TSC2):c.2701C>T (p.Arg901Cys) http://identifiers.org/clinvar/207673 ^@ NM_000548.4(TSC2):c.2712C>G (p.Phe904Leu) http://identifiers.org/clinvar/207674 ^@ NM_000548.4(TSC2):c.2743-7C>G http://identifiers.org/clinvar/207735 ^@ NM_000548.4(TSC2):c.2756A>G (p.Asn919Ser) http://identifiers.org/clinvar/207774 ^@ NM_000548.4(TSC2):c.2859dupC (p.Lys954Glnfs) http://identifiers.org/clinvar/207675 ^@ NM_000548.4(TSC2):c.2968A>G (p.Arg990Gly) http://identifiers.org/clinvar/207738 ^@ NM_000548.4(TSC2):c.2986A>G (p.Thr996Ala) http://identifiers.org/clinvar/207739 ^@ NM_000548.4(TSC2):c.3106T>G (p.Ser1036Ala) http://identifiers.org/clinvar/207741 ^@ NM_000548.4(TSC2):c.3145G>A (p.Glu1049Lys) http://identifiers.org/clinvar/207780 ^@ NM_000548.4(TSC2):c.3180G>A (p.Trp1060Ter) http://identifiers.org/clinvar/207743 ^@ NM_000548.4(TSC2):c.3271G>A (p.Gly1091Ser) http://identifiers.org/clinvar/207744 ^@ NM_000548.4(TSC2):c.3278A>G (p.Glu1093Gly) http://identifiers.org/clinvar/207676 ^@ NM_000548.4(TSC2):c.3326C>T (p.Pro1109Leu) http://identifiers.org/clinvar/207677 ^@ NM_000548.4(TSC2):c.3374G>A (p.Arg1125Gln) http://identifiers.org/clinvar/207784 ^@ NM_000548.4(TSC2):c.3425T>C (p.Leu1142Pro) http://identifiers.org/clinvar/207745 ^@ NM_000548.4(TSC2):c.3428A>T (p.Asp1143Val) http://identifiers.org/clinvar/207746 ^@ NM_000548.4(TSC2):c.3532C>G (p.Gln1178Glu) http://identifiers.org/clinvar/207678 ^@ NM_000548.4(TSC2):c.3565C>G (p.Leu1189Val) http://identifiers.org/clinvar/207747 ^@ NM_000548.4(TSC2):c.3624G>A (p.Trp1208Ter) http://identifiers.org/clinvar/207790 ^@ NM_000548.4(TSC2):c.3736delG (p.Asp1246Thrfs) http://identifiers.org/clinvar/207776 ^@ NM_000548.4(TSC2):c.3738dupC (p.Thr1247Hisfs) http://identifiers.org/clinvar/207791 ^@ NM_000548.4(TSC2):c.3739delA (p.Thr1247Glnfs) http://identifiers.org/clinvar/207775 ^@ NM_000548.4(TSC2):c.3797dupT (p.Pro1267Alafs) http://identifiers.org/clinvar/207792 ^@ NM_000548.4(TSC2):c.3841_3853delTCCAGCTGCCAAG (p.Ser1281Aspfs) http://identifiers.org/clinvar/207749 ^@ NM_000548.4(TSC2):c.3939G>T (p.Glu1313Asp) http://identifiers.org/clinvar/207793 ^@ NM_000548.4(TSC2):c.4005+4_4005+7dupAGTG http://identifiers.org/clinvar/207679 ^@ NM_000548.4(TSC2):c.4029G>C (p.Glu1343Asp) http://identifiers.org/clinvar/207750 ^@ NM_000548.4(TSC2):c.4030G>A (p.Glu1344Lys) http://identifiers.org/clinvar/207751 ^@ NM_000548.4(TSC2):c.4045G>A (p.Ala1349Thr) http://identifiers.org/clinvar/207752 ^@ NM_000548.4(TSC2):c.4067G>A (p.Gly1356Asp) http://identifiers.org/clinvar/207680 ^@ NM_000548.4(TSC2):c.4094C>T (p.Ser1365Leu) http://identifiers.org/clinvar/207681 ^@ NM_000548.4(TSC2):c.4107G>A (p.Arg1369=) http://identifiers.org/clinvar/207682 ^@ NM_000548.4(TSC2):c.4198G>A (p.Asp1400Asn) http://identifiers.org/clinvar/207753 ^@ NM_000548.4(TSC2):c.4223G>T (p.Gly1408Val) http://identifiers.org/clinvar/207683 ^@ NM_000548.4(TSC2):c.4226G>A (p.Arg1409Gln) http://identifiers.org/clinvar/207785 ^@ NM_000548.4(TSC2):c.4312C>T (p.Arg1438Trp) http://identifiers.org/clinvar/207684 ^@ NM_000548.4(TSC2):c.4385C>G (p.Thr1462Ser) http://identifiers.org/clinvar/207685 ^@ NM_000548.4(TSC2):c.4426G>A (p.Glu1476Lys) http://identifiers.org/clinvar/207754 ^@ NM_000548.4(TSC2):c.4447A>G (p.Arg1483Gly) http://identifiers.org/clinvar/207794 ^@ NM_000548.4(TSC2):c.4662+2_4662+6delTGAGG http://identifiers.org/clinvar/207686 ^@ NM_000548.4(TSC2):c.4662+10C>T http://identifiers.org/clinvar/207688 ^@ NM_000548.4(TSC2):c.4663-16_4663-15delTC http://identifiers.org/clinvar/207756 ^@ NM_000548.4(TSC2):c.4729G>A (p.Gly1577Ser) http://identifiers.org/clinvar/207757 ^@ NM_000548.4(TSC2):c.4900C>T (p.Arg1634Cys) http://identifiers.org/clinvar/207690 ^@ NM_000548.4(TSC2):c.4998C>A (p.Phe1666Leu) http://identifiers.org/clinvar/207758 ^@ NM_000548.4(TSC2):c.5039G>A (p.Cys1680Tyr) http://identifiers.org/clinvar/207691 ^@ NM_000548.4(TSC2):c.5069-8C>T http://identifiers.org/clinvar/207692 ^@ NM_000548.4(TSC2):c.5095G>A (p.Val1699Met) http://identifiers.org/clinvar/207693 ^@ NM_000548.4(TSC2):c.5120A>G (p.Asn1707Ser) http://identifiers.org/clinvar/207694 ^@ NM_000548.4(TSC2):c.5142G>A (p.Gln1714=) http://identifiers.org/clinvar/207759 ^@ NM_000548.4(TSC2):c.5159A>C (p.Asn1720Thr) http://identifiers.org/clinvar/207786 ^@ NM_000548.4(TSC2):c.5186G>A (p.Arg1729His) http://identifiers.org/clinvar/207760 ^@ NM_000548.4(TSC2):c.5252G>A (p.Arg1751His) http://identifiers.org/clinvar/207695 ^@ NM_000548.4(TSC2):c.5260-12C>T http://identifiers.org/clinvar/207761 ^@ NM_000548.4(TSC2):c.5261T>G (p.Ile1754Ser) http://identifiers.org/clinvar/207777 ^@ NM_000548.4(TSC2):c.5262delC (p.Cys1755Alafs) http://identifiers.org/clinvar/207762 ^@ NM_000548.4(TSC2):c.5266G>A (p.Glu1756Lys) http://identifiers.org/clinvar/207763 ^@ NM_000548.4(TSC2):c.5347G>A (p.Glu1783Lys) http://identifiers.org/clinvar/207764 ^@ NM_000548.4(TSC2):c.5357C>G (p.Pro1786Arg) http://identifiers.org/clinvar/207696 ^@ NM_000548.4(TSC2):c.5389A>C (p.Ile1797Leu) http://identifiers.org/clinvar/207697 ^@ NM_000548.4(TSC2):c.5394_5396delCTC (p.Ser1799del) http://identifiers.org/clinvar/207483 ^@ NM_001199107.1(TBC1D24):c.-18C>T http://identifiers.org/clinvar/207493 ^@ NM_001199107.1(TBC1D24):c.20A>G (p.Asn7Ser) http://identifiers.org/clinvar/207517 ^@ NM_001199107.1(TBC1D24):c.178C>T (p.Arg60Trp) http://identifiers.org/clinvar/207518 ^@ NM_001199107.1(TBC1D24):c.179G>A (p.Arg60Gln) http://identifiers.org/clinvar/207495 ^@ NM_001199107.1(TBC1D24):c.340G>A (p.Val114Met) http://identifiers.org/clinvar/207496 ^@ NM_001199107.1(TBC1D24):c.343C>T (p.Arg115Cys) http://identifiers.org/clinvar/207497 ^@ NM_001199107.1(TBC1D24):c.344G>A (p.Arg115His) http://identifiers.org/clinvar/207498 ^@ NM_001199107.1(TBC1D24):c.379G>A (p.Asp127Asn) http://identifiers.org/clinvar/207499 ^@ NM_001199107.1(TBC1D24):c.457G>A (p.Glu153Lys) http://identifiers.org/clinvar/207507 ^@ NM_001199107.1(TBC1D24):c.475delC (p.Leu159Trpfs) http://identifiers.org/clinvar/207484 ^@ NM_001199107.1(TBC1D24):c.493G>A (p.Gly165Ser) http://identifiers.org/clinvar/207500 ^@ NM_001199107.1(TBC1D24):c.578C>T (p.Ala193Val) http://identifiers.org/clinvar/207501 ^@ NM_001199107.1(TBC1D24):c.605C>T (p.Ser202Leu) http://identifiers.org/clinvar/207485 ^@ NM_001199107.1(TBC1D24):c.630G>A (p.Ala210=) http://identifiers.org/clinvar/207486 ^@ NM_001199107.1(TBC1D24):c.663C>T (p.Pro221=) http://identifiers.org/clinvar/207502 ^@ NM_001199107.1(TBC1D24):c.676G>A (p.Ala226Thr) http://identifiers.org/clinvar/207503 ^@ NM_001199107.1(TBC1D24):c.680G>T (p.Arg227Leu) http://identifiers.org/clinvar/207516 ^@ NM_001199107.1(TBC1D24):c.691_700delGTCTTCCTGGinsCTT (p.Val231Leufs) http://identifiers.org/clinvar/207487 ^@ NM_001199107.1(TBC1D24):c.702G>A (p.Val234=) http://identifiers.org/clinvar/207504 ^@ NM_001199107.1(TBC1D24):c.816C>A (p.Phe272Leu) http://identifiers.org/clinvar/207505 ^@ NM_020705.2(TBC1D24):c.845C>G (p.Pro282Arg) http://identifiers.org/clinvar/207506 ^@ NM_001199107.1(TBC1D24):c.871G>A (p.Ala291Thr) http://identifiers.org/clinvar/207519 ^@ NM_001199107.1(TBC1D24):c.878G>A (p.Arg293His) http://identifiers.org/clinvar/207509 ^@ NM_001199107.1(TBC1D24):c.920A>C (p.Asn307Thr) http://identifiers.org/clinvar/207488 ^@ NM_001199107.1(TBC1D24):c.951C>T (p.Thr317=) http://identifiers.org/clinvar/207489 ^@ NM_001199107.1(TBC1D24):c.965+11G>A http://identifiers.org/clinvar/207510 ^@ NM_001199107.1(TBC1D24):c.983G>T (p.Arg328Met) http://identifiers.org/clinvar/207511 ^@ NM_001199107.1(TBC1D24):c.1028A>C (p.Glu343Ala) http://identifiers.org/clinvar/207520 ^@ NM_001199107.1(TBC1D24):c.1126G>C (p.Gly376Arg) http://identifiers.org/clinvar/207512 ^@ NM_001199107.1(TBC1D24):c.1253T>C (p.Phe418Ser) http://identifiers.org/clinvar/207513 ^@ NM_001199107.1(TBC1D24):c.1457G>A (p.Arg486His) http://identifiers.org/clinvar/207490 ^@ NM_001199107.1(TBC1D24):c.1473C>G (p.Pro491=) http://identifiers.org/clinvar/207514 ^@ NM_020705.2(TBC1D24):c.1472T>C (p.Met491Thr) http://identifiers.org/clinvar/207491 ^@ NM_001199107.1(TBC1D24):c.1503G>A (p.Gly501=) http://identifiers.org/clinvar/207492 ^@ NM_001199107.1(TBC1D24):c.1525+13A>C http://identifiers.org/clinvar/207515 ^@ NM_001199107.1(TBC1D24):c.1526G>T (p.Gly509Val) http://identifiers.org/clinvar/205103 ^@ NM_001042432.1(CLN3):c.1262C>T (p.Ser421Phe) http://identifiers.org/clinvar/205101 ^@ NM_001042432.1(CLN3):c.1225A>G (p.Met409Val) http://identifiers.org/clinvar/205100 ^@ NM_001042432.1(CLN3):c.1168G>A (p.Val390Met) http://identifiers.org/clinvar/205099 ^@ NM_001042432.1(CLN3):c.1117C>G (p.Leu373Val) http://identifiers.org/clinvar/205098 ^@ NM_001042432.1(CLN3):c.1086C>G (p.Asp362Glu) http://identifiers.org/clinvar/205096 ^@ NM_001042432.1(CLN3):c.1028G>A (p.Arg343His) http://identifiers.org/clinvar/205084 ^@ NM_001042432.1(CLN3):c.1022G>A (p.Arg341His) http://identifiers.org/clinvar/205095 ^@ NM_001042432.1(CLN3):c.988G>A (p.Val330Ile) http://identifiers.org/clinvar/205094 ^@ NM_001042432.1(CLN3):c.976T>C (p.Tyr326His) http://identifiers.org/clinvar/205093 ^@ NM_001042432.1(CLN3):c.962+3A>T http://identifiers.org/clinvar/205092 ^@ NM_001042432.1(CLN3):c.949C>T (p.Gln317Ter) http://identifiers.org/clinvar/205083 ^@ NM_001042432.1(CLN3):c.868G>T (p.Val290Leu) http://identifiers.org/clinvar/205117 ^@ NM_001042432.1(CLN3):c.859C>T (p.Pro287Ser) http://identifiers.org/clinvar/205119 ^@ NM_001042432.1(CLN3):c.769G>A (p.Glu257Lys) http://identifiers.org/clinvar/205115 ^@ NM_001042432.1(CLN3):c.734_736delCAG (p.Ala245del) http://identifiers.org/clinvar/205114 ^@ NM_001042432.1(CLN3):c.731_733delAAG (p.Glu244del) http://identifiers.org/clinvar/205089 ^@ NM_001042432.1(CLN3):c.678-18C>A http://identifiers.org/clinvar/205113 ^@ NM_001042432.1(CLN3):c.665T>A (p.Leu222Gln) http://identifiers.org/clinvar/205112 ^@ NM_001042432.1(CLN3):c.649C>A (p.Leu217Met) http://identifiers.org/clinvar/205118 ^@ NM_001042432.1(CLN3):c.616G>A (p.Gly206Ser) http://identifiers.org/clinvar/205111 ^@ NM_001042432.1(CLN3):c.586G>T (p.Ala196Ser) http://identifiers.org/clinvar/205110 ^@ NM_001042432.1(CLN3):c.472G>A (p.Ala158Thr) http://identifiers.org/clinvar/205088 ^@ NM_001042432.1(CLN3):c.418G>A (p.Val140Ile) http://identifiers.org/clinvar/205109 ^@ NM_001042432.1(CLN3):c.392G>A (p.Ser131Asn) http://identifiers.org/clinvar/205108 ^@ NM_001042432.1(CLN3):c.380G>A (p.Arg127Gln) http://identifiers.org/clinvar/205107 ^@ NM_001042432.1(CLN3):c.361C>G (p.Leu121Val) http://identifiers.org/clinvar/205087 ^@ NM_001042432.1(CLN3):c.295-13T>A http://identifiers.org/clinvar/205086 ^@ NM_001042432.1(CLN3):c.270T>C (p.Phe90=) http://identifiers.org/clinvar/205106 ^@ NM_001042432.1(CLN3):c.266G>A (p.Arg89Gln) http://identifiers.org/clinvar/205085 ^@ NM_001042432.1(CLN3):c.264A>C (p.Ser88=) http://identifiers.org/clinvar/205105 ^@ NM_001042432.1(CLN3):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/205104 ^@ NM_001042432.1(CLN3):c.206C>T (p.Ser69Leu) http://identifiers.org/clinvar/205082 ^@ NM_001042432.1(CLN3):c.-33C>A http://identifiers.org/clinvar/205081 ^@ NM_001042432.1(CLN3):c.-41C>A http://identifiers.org/clinvar/205091 ^@ NM_001042432.1(CLN3):c.-76-4G>T http://identifiers.org/clinvar/205090 ^@ NM_001042432.1(CLN3):c.-76-14G>A http://identifiers.org/clinvar/206694 ^@ NM_145239.2(PRRT2):c.-66+1G>A http://identifiers.org/clinvar/206697 ^@ NM_145239.2(PRRT2):c.32T>G (p.Met11Arg) http://identifiers.org/clinvar/206678 ^@ NM_145239.2(PRRT2):c.133C>T (p.Pro45Ser) http://identifiers.org/clinvar/206695 ^@ NM_145239.2(PRRT2):c.173delC (p.Pro58Leufs) http://identifiers.org/clinvar/206699 ^@ NM_145239.2(PRRT2):c.215_216delCA (p.Thr72Argfs) http://identifiers.org/clinvar/206679 ^@ NM_145239.2(PRRT2):c.225G>A (p.Pro75=) http://identifiers.org/clinvar/206680 ^@ NM_145239.2(PRRT2):c.352G>A (p.Ala118Thr) http://identifiers.org/clinvar/206683 ^@ NM_145239.2(PRRT2):c.415G>A (p.Ala139Thr) http://identifiers.org/clinvar/206700 ^@ NM_145239.2(PRRT2):c.433dupC (p.Arg145Profs) http://identifiers.org/clinvar/206684 ^@ NM_145239.2(PRRT2):c.460C>T (p.Pro154Ser) http://identifiers.org/clinvar/206685 ^@ NM_145239.2(PRRT2):c.603C>G (p.His201Gln) http://identifiers.org/clinvar/206698 ^@ NM_145239.2(PRRT2):c.623C>T (p.Ser208Phe) http://identifiers.org/clinvar/206686 ^@ NM_145239.2(PRRT2):c.638G>A (p.Gly213Glu) http://identifiers.org/clinvar/206687 ^@ NM_145239.2(PRRT2):c.640G>C (p.Ala214Pro) http://identifiers.org/clinvar/206688 ^@ NM_145239.2(PRRT2):c.644C>G (p.Pro215Arg) http://identifiers.org/clinvar/206689 ^@ NM_145239.2(PRRT2):c.647C>A (p.Pro216His) http://identifiers.org/clinvar/206690 ^@ NM_145239.2(PRRT2):c.872C>A (p.Ala291Asp) http://identifiers.org/clinvar/206691 ^@ NM_145239.2(PRRT2):c.931C>T (p.Arg311Trp) http://identifiers.org/clinvar/206693 ^@ NM_145239.2(PRRT2):c.971G>C (p.Gly324Ala) http://identifiers.org/clinvar/206696 ^@ NM_145239.2(PRRT2):c.971delG (p.Gly324Glufs) http://identifiers.org/clinvar/206681 ^@ NM_145239.2(PRRT2):c.1013-29C>T http://identifiers.org/clinvar/205684 ^@ NM_000833.4(GRIN2A):c.4330G>A (p.Val1444Ile) http://identifiers.org/clinvar/205683 ^@ NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) http://identifiers.org/clinvar/205682 ^@ NM_000833.4(GRIN2A):c.4065G>C (p.Lys1355Asn) http://identifiers.org/clinvar/205681 ^@ NM_000833.4(GRIN2A):c.3961G>C (p.Glu1321Gln) http://identifiers.org/clinvar/205680 ^@ NM_000833.4(GRIN2A):c.3884T>C (p.Ile1295Thr) http://identifiers.org/clinvar/205679 ^@ NM_000833.4(GRIN2A):c.3827C>G (p.Ala1276Gly) http://identifiers.org/clinvar/205678 ^@ NM_000833.4(GRIN2A):c.3796G>A (p.Val1266Ile) http://identifiers.org/clinvar/205697 ^@ NM_000833.4(GRIN2A):c.3745G>A (p.Asp1249Asn) http://identifiers.org/clinvar/205677 ^@ NM_000833.4(GRIN2A):c.3685A>T (p.Thr1229Ser) http://identifiers.org/clinvar/205644 ^@ NM_000833.4(GRIN2A):c.3622C>A (p.Arg1208=) http://identifiers.org/clinvar/205676 ^@ NM_000833.4(GRIN2A):c.3612C>A (p.Ser1204Arg) http://identifiers.org/clinvar/205675 ^@ NM_000833.4(GRIN2A):c.3578T>G (p.Leu1193Trp) http://identifiers.org/clinvar/205674 ^@ NM_000833.4(GRIN2A):c.3571T>G (p.Phe1191Val) http://identifiers.org/clinvar/205673 ^@ NM_000833.4(GRIN2A):c.3365G>A (p.Gly1122Asp) http://identifiers.org/clinvar/205672 ^@ NM_000833.4(GRIN2A):c.3363T>G (p.Asp1121Glu) http://identifiers.org/clinvar/205671 ^@ NM_000833.4(GRIN2A):c.3344A>T (p.Asp1115Val) http://identifiers.org/clinvar/205669 ^@ NM_000833.4(GRIN2A):c.3332G>T (p.Ser1111Ile) http://identifiers.org/clinvar/205668 ^@ NM_000833.4(GRIN2A):c.3307C>T (p.Arg1103Cys) http://identifiers.org/clinvar/205667 ^@ NM_000833.4(GRIN2A):c.3191C>T (p.Thr1064Met) http://identifiers.org/clinvar/205693 ^@ NM_000833.4(GRIN2A):c.3190A>G (p.Thr1064Ala) http://identifiers.org/clinvar/205666 ^@ NM_000833.4(GRIN2A):c.3084G>T (p.Gln1028His) http://identifiers.org/clinvar/205665 ^@ NM_000833.4(GRIN2A):c.2907C>G (p.Asn969Lys) http://identifiers.org/clinvar/205643 ^@ NM_000833.4(GRIN2A):c.2852G>T (p.Gly951Val) http://identifiers.org/clinvar/205664 ^@ NM_000833.4(GRIN2A):c.2801T>C (p.Met934Thr) http://identifiers.org/clinvar/205663 ^@ NM_000833.4(GRIN2A):c.2796G>C (p.Met932Ile) http://identifiers.org/clinvar/205662 ^@ NM_000833.4(GRIN2A):c.2765C>T (p.Ala922Val) http://identifiers.org/clinvar/205661 ^@ NM_000833.4(GRIN2A):c.2695C>T (p.Arg899Trp) http://identifiers.org/clinvar/205692 ^@ NM_000833.4(GRIN2A):c.2627T>C (p.Ile876Thr) http://identifiers.org/clinvar/205690 ^@ NM_000833.4(GRIN2A):c.2563G>A (p.Asp855Asn) http://identifiers.org/clinvar/205659 ^@ NM_000833.4(GRIN2A):c.2449A>G (p.Met817Val) http://identifiers.org/clinvar/205642 ^@ NM_000833.4(GRIN2A):c.2277C>T (p.Thr759=) http://identifiers.org/clinvar/205658 ^@ NM_000833.4(GRIN2A):c.2197G>A (p.Ala733Thr) http://identifiers.org/clinvar/205657 ^@ NM_000833.4(GRIN2A):c.2191G>A (p.Asp731Asn) http://identifiers.org/clinvar/205656 ^@ NM_000833.4(GRIN2A):c.2146G>A (p.Ala716Thr) http://identifiers.org/clinvar/205655 ^@ NM_000833.4(GRIN2A):c.2054T>G (p.Val685Gly) http://identifiers.org/clinvar/205654 ^@ NM_000833.4(GRIN2A):c.2050A>G (p.Thr684Ala) http://identifiers.org/clinvar/205641 ^@ NM_000833.4(GRIN2A):c.2007+15C>T http://identifiers.org/clinvar/205652 ^@ NM_000833.4(GRIN2A):c.1943A>G (p.Asn648Ser) http://identifiers.org/clinvar/205687 ^@ NM_000833.4(GRIN2A):c.1552C>T (p.Arg518Cys) http://identifiers.org/clinvar/205650 ^@ NM_000833.4(GRIN2A):c.1517T>C (p.Val506Ala) http://identifiers.org/clinvar/205649 ^@ NM_000833.4(GRIN2A):c.1354G>A (p.Val452Met) http://identifiers.org/clinvar/205646 ^@ NM_000833.4(GRIN2A):c.1006C>T (p.Pro336Ser) http://identifiers.org/clinvar/205639 ^@ NM_000833.4(GRIN2A):c.939C>T (p.Ile313=) http://identifiers.org/clinvar/205645 ^@ NM_000833.4(GRIN2A):c.869C>T (p.Ala290Val) http://identifiers.org/clinvar/205685 ^@ NM_000833.4(GRIN2A):c.627delC (p.Phe210Leufs) http://identifiers.org/clinvar/205638 ^@ NM_000833.4(GRIN2A):c.422C>T (p.Thr141Met) http://identifiers.org/clinvar/205801 ^@ NM_001193466.1(KANSL1):c.3298C>G (p.Gln1100Glu) http://identifiers.org/clinvar/205756 ^@ NM_001193466.1(KANSL1):c.3170A>G (p.Gln1057Arg) http://identifiers.org/clinvar/205755 ^@ NM_001193466.1(KANSL1):c.3148T>C (p.Cys1050Arg) http://identifiers.org/clinvar/205754 ^@ NM_001193466.1(KANSL1):c.3146A>G (p.Glu1049Gly) http://identifiers.org/clinvar/205753 ^@ NM_001193466.1(KANSL1):c.3141G>C (p.Gln1047His) http://identifiers.org/clinvar/205752 ^@ NM_001193466.1(KANSL1):c.3082G>C (p.Asp1028His) http://identifiers.org/clinvar/205800 ^@ NM_001193466.1(KANSL1):c.3056G>A (p.Arg1019His) http://identifiers.org/clinvar/205751 ^@ NM_001193466.1(KANSL1):c.2951C>A (p.Ser984Tyr) http://identifiers.org/clinvar/205750 ^@ NM_001193466.1(KANSL1):c.2791C>T (p.Arg931Trp) http://identifiers.org/clinvar/205749 ^@ NM_001193466.1(KANSL1):c.2725-7A>G http://identifiers.org/clinvar/205748 ^@ NM_001193466.1(KANSL1):c.2718T>G (p.Asn906Lys) http://identifiers.org/clinvar/205747 ^@ NM_001193466.1(KANSL1):c.2713_2715delGAG (p.Glu905del) http://identifiers.org/clinvar/205799 ^@ NM_001193466.1(KANSL1):c.2683C>G (p.Leu895Val) http://identifiers.org/clinvar/205798 ^@ NM_001193466.1(KANSL1):c.2534G>A (p.Ser845Asn) http://identifiers.org/clinvar/205746 ^@ NM_001193466.1(KANSL1):c.2509A>G (p.Ser837Gly) http://identifiers.org/clinvar/205745 ^@ NM_001193466.1(KANSL1):c.2414T>C (p.Met805Thr) http://identifiers.org/clinvar/205744 ^@ NM_001193466.1(KANSL1):c.2331C>T (p.Pro777=) http://identifiers.org/clinvar/205743 ^@ NM_001193466.1(KANSL1):c.2324C>G (p.Pro775Arg) http://identifiers.org/clinvar/205797 ^@ NM_001193466.1(KANSL1):c.2233A>G (p.Arg745Gly) http://identifiers.org/clinvar/205796 ^@ NM_001193466.1(KANSL1):c.2224C>T (p.Arg742Trp) http://identifiers.org/clinvar/205795 ^@ NM_001193466.1(KANSL1):c.2203+1G>A http://identifiers.org/clinvar/205794 ^@ NM_001193466.1(KANSL1):c.2159G>A (p.Arg720His) http://identifiers.org/clinvar/205742 ^@ NM_001193466.1(KANSL1):c.2158C>T (p.Arg720Cys) http://identifiers.org/clinvar/205741 ^@ NM_001193466.1(KANSL1):c.2125G>A (p.Ala709Thr) http://identifiers.org/clinvar/205740 ^@ NM_001193466.1(KANSL1):c.2110T>C (p.Ser704Pro) http://identifiers.org/clinvar/205739 ^@ NM_001193466.1(KANSL1):c.2067G>T (p.Trp689Cys) http://identifiers.org/clinvar/205738 ^@ NM_001193466.1(KANSL1):c.1937C>T (p.Pro646Leu) http://identifiers.org/clinvar/205737 ^@ NM_001193466.1(KANSL1):c.1857G>T (p.Arg619=) http://identifiers.org/clinvar/205793 ^@ NM_001193466.1(KANSL1):c.1672G>C (p.Asp558His) http://identifiers.org/clinvar/205792 ^@ NM_001193466.1(KANSL1):c.1667T>G (p.Leu556Trp) http://identifiers.org/clinvar/205791 ^@ NM_001193466.1(KANSL1):c.1654C>A (p.Leu552Ile) http://identifiers.org/clinvar/205790 ^@ NM_001193466.1(KANSL1):c.1625T>A (p.Leu542His) http://identifiers.org/clinvar/205736 ^@ NM_001193466.1(KANSL1):c.1613C>T (p.Ser538Leu) http://identifiers.org/clinvar/205735 ^@ NM_001193466.1(KANSL1):c.1547C>G (p.Ser516Cys) http://identifiers.org/clinvar/205734 ^@ NM_001193466.1(KANSL1):c.1523C>A (p.Thr508Asn) http://identifiers.org/clinvar/205733 ^@ NM_001193466.1(KANSL1):c.1423G>A (p.Ala475Thr) http://identifiers.org/clinvar/205788 ^@ NM_001193466.1(KANSL1):c.1421G>A (p.Arg474His) http://identifiers.org/clinvar/205787 ^@ NM_001193466.1(KANSL1):c.1285C>A (p.Pro429Thr) http://identifiers.org/clinvar/205786 ^@ NM_001193466.1(KANSL1):c.1277G>A (p.Arg426His) http://identifiers.org/clinvar/205785 ^@ NM_001193466.1(KANSL1):c.1276C>T (p.Arg426Cys) http://identifiers.org/clinvar/205784 ^@ NM_001193466.1(KANSL1):c.1265A>T (p.Asp422Val) http://identifiers.org/clinvar/205783 ^@ NM_001193466.1(KANSL1):c.1189G>A (p.Ala397Thr) http://identifiers.org/clinvar/205811 ^@ NM_001193466.1(KANSL1):c.1187A>T (p.Gln396Leu) http://identifiers.org/clinvar/205814 ^@ NM_001193466.1(KANSL1):c.1186C>T (p.Gln396Ter) http://identifiers.org/clinvar/205810 ^@ NM_001193466.1(KANSL1):c.1142A>G (p.Glu381Gly) http://identifiers.org/clinvar/205782 ^@ NM_001193466.1(KANSL1):c.1124C>T (p.Ser375Leu) http://identifiers.org/clinvar/205781 ^@ NM_001193466.1(KANSL1):c.1116A>G (p.Lys372=) http://identifiers.org/clinvar/205780 ^@ NM_001193466.1(KANSL1):c.1106A>G (p.Asn369Ser) http://identifiers.org/clinvar/205808 ^@ NM_001193466.1(KANSL1):c.895C>T (p.Arg299Cys) http://identifiers.org/clinvar/205778 ^@ NM_001193466.1(KANSL1):c.849G>A (p.Arg283=) http://identifiers.org/clinvar/205813 ^@ NM_001193466.1(KANSL1):c.805C>T (p.Pro269Ser) http://identifiers.org/clinvar/205777 ^@ NM_001193466.1(KANSL1):c.800A>G (p.Lys267Arg) http://identifiers.org/clinvar/205807 ^@ NM_001193466.1(KANSL1):c.760T>G (p.Ser254Ala) http://identifiers.org/clinvar/205776 ^@ NM_001193466.1(KANSL1):c.727C>A (p.Gln243Lys) http://identifiers.org/clinvar/205775 ^@ NM_001193466.1(KANSL1):c.719C>T (p.Pro240Leu) http://identifiers.org/clinvar/205774 ^@ NM_001193466.1(KANSL1):c.688A>G (p.Asn230Asp) http://identifiers.org/clinvar/205773 ^@ NM_001193466.1(KANSL1):c.680G>A (p.Ser227Asn) http://identifiers.org/clinvar/205772 ^@ NM_001193466.1(KANSL1):c.635A>G (p.His212Arg) http://identifiers.org/clinvar/205806 ^@ NM_001193466.1(KANSL1):c.620A>G (p.Asn207Ser) http://identifiers.org/clinvar/205770 ^@ NM_001193466.1(KANSL1):c.571G>T (p.Gly191Cys) http://identifiers.org/clinvar/205769 ^@ NM_001193466.1(KANSL1):c.541C>T (p.Arg181Trp) http://identifiers.org/clinvar/205768 ^@ NM_001193466.1(KANSL1):c.500A>G (p.His167Arg) http://identifiers.org/clinvar/205767 ^@ NM_001193466.1(KANSL1):c.477G>T (p.Lys159Asn) http://identifiers.org/clinvar/205805 ^@ NM_001193466.1(KANSL1):c.452A>G (p.Gln151Arg) http://identifiers.org/clinvar/205766 ^@ NM_001193466.1(KANSL1):c.296A>G (p.Gln99Arg) http://identifiers.org/clinvar/205804 ^@ NM_001193466.1(KANSL1):c.158C>G (p.Ala53Gly) http://identifiers.org/clinvar/205765 ^@ NM_001193466.1(KANSL1):c.122A>G (p.Asn41Ser) http://identifiers.org/clinvar/205764 ^@ NM_001193466.1(KANSL1):c.118G>A (p.Ala40Thr) http://identifiers.org/clinvar/205763 ^@ NM_001193466.1(KANSL1):c.100G>A (p.Ala34Thr) http://identifiers.org/clinvar/205761 ^@ NM_001193466.1(KANSL1):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/205760 ^@ NM_001193466.1(KANSL1):c.30C>T (p.Asp10=) http://identifiers.org/clinvar/205802 ^@ NM_001193466.1(KANSL1):c.19G>A (p.Ala7Thr) http://identifiers.org/clinvar/205759 ^@ NM_001193466.1(KANSL1):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/205758 ^@ NM_001193466.1(KANSL1):c.-43_-38dupCTCGGC http://identifiers.org/clinvar/205757 ^@ NM_001193466.1(KANSL1):c.-90G>C http://identifiers.org/clinvar/205626 ^@ NM_004287.4(GOSR2):c.-23C>A http://identifiers.org/clinvar/205632 ^@ NM_004287.4(GOSR2):c.-1C>T http://identifiers.org/clinvar/205627 ^@ NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) http://identifiers.org/clinvar/205633 ^@ NM_004287.4(GOSR2):c.94+4A>G http://identifiers.org/clinvar/205628 ^@ NM_004287.4(GOSR2):c.111C>T (p.Ile37=) http://identifiers.org/clinvar/205629 ^@ NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) http://identifiers.org/clinvar/205636 ^@ NM_004287.4(GOSR2):c.206G>A (p.Arg69Gln) http://identifiers.org/clinvar/205634 ^@ NM_004287.4(GOSR2):c.322A>C (p.Thr108Pro) http://identifiers.org/clinvar/205630 ^@ NM_004287.4(GOSR2):c.388C>T (p.Leu130Phe) http://identifiers.org/clinvar/205625 ^@ NM_004287.4(GOSR2):c.478-20dupT http://identifiers.org/clinvar/205631 ^@ NM_004287.4(GOSR2):c.509A>G (p.Asn170Ser) http://identifiers.org/clinvar/205635 ^@ NM_004287.4(GOSR2):c.557_584del28 (p.Ala186Valfs) http://identifiers.org/clinvar/206436 ^@ NM_018129.3(PNPO):c.-28A>G http://identifiers.org/clinvar/206437 ^@ NM_018129.3(PNPO):c.-6C>A http://identifiers.org/clinvar/206438 ^@ NM_018129.3(PNPO):c.-1dupC http://identifiers.org/clinvar/206456 ^@ NM_018129.3(PNPO):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/206439 ^@ NM_018129.3(PNPO):c.12G>T (p.Trp4Cys) http://identifiers.org/clinvar/206457 ^@ NM_018129.3(PNPO):c.89C>T (p.Ala30Val) http://identifiers.org/clinvar/206458 ^@ NM_018129.3(PNPO):c.98A>T (p.Asp33Val) http://identifiers.org/clinvar/206440 ^@ NM_018129.3(PNPO):c.148G>A (p.Glu50Lys) http://identifiers.org/clinvar/206441 ^@ NM_018129.3(PNPO):c.167T>G (p.Leu56Arg) http://identifiers.org/clinvar/206435 ^@ NM_018129.3(PNPO):c.306C>T (p.Phe102=) http://identifiers.org/clinvar/206443 ^@ NM_018129.3(PNPO):c.307G>A (p.Gly103Arg) http://identifiers.org/clinvar/206444 ^@ NM_018129.3(PNPO):c.340G>A (p.Glu114Lys) http://identifiers.org/clinvar/206445 ^@ NM_018129.3(PNPO):c.363+6T>C http://identifiers.org/clinvar/206460 ^@ NM_018129.3(PNPO):c.448_451delCCTG (p.Pro150Argfs) http://identifiers.org/clinvar/206442 ^@ NM_018129.3(PNPO):c.471C>A (p.Tyr157Ter) http://identifiers.org/clinvar/206446 ^@ NM_018129.3(PNPO):c.481C>T (p.Arg161Cys) http://identifiers.org/clinvar/206447 ^@ NM_018129.3(PNPO):c.493A>G (p.Ser165Gly) http://identifiers.org/clinvar/206448 ^@ NM_018129.3(PNPO):c.542G>A (p.Arg181Gln) http://identifiers.org/clinvar/206459 ^@ NM_018129.3(PNPO):c.544G>A (p.Glu182Lys) http://identifiers.org/clinvar/206450 ^@ NM_018129.3(PNPO):c.673C>T (p.Arg225Cys) http://identifiers.org/clinvar/206451 ^@ NM_018129.3(PNPO):c.674G>T (p.Arg225Leu) http://identifiers.org/clinvar/206452 ^@ NM_018129.3(PNPO):c.686G>A (p.Arg229Gln) http://identifiers.org/clinvar/206453 ^@ NM_018129.3(PNPO):c.698G>A (p.Arg233Gln) http://identifiers.org/clinvar/206454 ^@ NM_018129.3(PNPO):c.700C>T (p.Arg234Trp) http://identifiers.org/clinvar/206455 ^@ NM_018129.3(PNPO):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/207537 ^@ NM_001083962.1(TCF4):c.*5-1G>A http://identifiers.org/clinvar/207545 ^@ NM_001083962.1(TCF4):c.2010_2011delGA (p.Gln670Hisfs) http://identifiers.org/clinvar/207527 ^@ NM_001083962.1(TCF4):c.1990G>A (p.Ala664Thr) http://identifiers.org/clinvar/207544 ^@ NM_001083962.1(TCF4):c.1966_1969dupGGCC (p.Pro657Argfs) http://identifiers.org/clinvar/287098 ^@ NM_003331.4(TYK2):c.2783C>T (p.Ala928Val) http://identifiers.org/clinvar/287099 ^@ NM_000128.3(F11):c.1305-9G>T http://identifiers.org/clinvar/287100 ^@ NM_138694.3(PKHD1):c.4257G>A (p.Arg1419=) http://identifiers.org/clinvar/287101 ^@ NM_138694.3(PKHD1):c.9391C>T (p.His3131Tyr) http://identifiers.org/clinvar/287102 ^@ NC_000002.11:g.172305341C>T http://identifiers.org/clinvar/287103 ^@ NM_138694.3(PKHD1):c.11400G>A (p.Gly3800=) http://identifiers.org/clinvar/287104 ^@ NM_000642.2(AGL):c.39C>T (p.Asn13=) http://identifiers.org/clinvar/287105 ^@ NM_006261.4(PROP1):c.550G>C (p.Ala184Pro) http://identifiers.org/clinvar/287106 ^@ NM_206828.3(NLRP7):c.1441G>A (p.Ala481Thr) http://identifiers.org/clinvar/287107 ^@ NM_000035.3(ALDOB):c.759C>T (p.Thr253=) http://identifiers.org/clinvar/287108 ^@ NM_001235.3(SERPINH1):c.716G>T (p.Arg239Leu) http://identifiers.org/clinvar/287109 ^@ NM_001177317.1(SLC34A3):c.1072G>A (p.Val358Met) http://identifiers.org/clinvar/287110 ^@ NM_020436.4(SALL4):c.2182G>C (p.Ala728Pro) http://identifiers.org/clinvar/287111 ^@ NM_004820.4(CYP7B1):c.1507A>G (p.Lys503Glu) http://identifiers.org/clinvar/287112 ^@ NM_014425.4(INVS):c.2193C>T (p.Gly731=) http://identifiers.org/clinvar/287113 ^@ NM_005334.2(HCFC1):c.1085-12G>A http://identifiers.org/clinvar/287114 ^@ NM_000478.5(ALPL):c.673T>C (p.Tyr225His) http://identifiers.org/clinvar/287115 ^@ NM_001031847.2(CPT1A):c.1908G>A (p.Ala636=) http://identifiers.org/clinvar/287116 ^@ NM_005506.3(SCARB2):c.486C>T (p.Ala162=) http://identifiers.org/clinvar/287117 ^@ NM_001014797.2(KCNMA1):c.2104C>T (p.Leu702Phe) http://identifiers.org/clinvar/287118 ^@ NM_005045.3(RELN):c.3135T>C (p.His1045=) http://identifiers.org/clinvar/287119 ^@ NM_001083961.1(WDR62):c.4549C>T (p.Arg1517Trp) http://identifiers.org/clinvar/287120 ^@ NM_005957.4(MTHFR):c.708C>T (p.Phe236=) http://identifiers.org/clinvar/287121 ^@ NM_015185.2(ARHGEF9):c.260A>G (p.Asn87Ser) http://identifiers.org/clinvar/287122 ^@ NM_024596.4(MCPH1):c.989A>G (p.Tyr330Cys) http://identifiers.org/clinvar/287123 ^@ NM_018451.4(CENPJ):c.376A>C (p.Ile126Leu) http://identifiers.org/clinvar/287124 ^@ NM_001127221.1(CACNA1A):c.6069C>T (p.Ser2023=) http://identifiers.org/clinvar/287125 ^@ NM_005045.3(RELN):c.7634C>T (p.Ala2545Val) http://identifiers.org/clinvar/287126 ^@ NM_005682.6(ADGRG1):c.1287-10G>C http://identifiers.org/clinvar/287127 ^@ NM_001184880.1(PCDH19):c.1265_1266delCA (p.Thr422Asnfs) http://identifiers.org/clinvar/287128 ^@ NM_000445.4(PLEC):c.10950C>T (p.Ile3650=) http://identifiers.org/clinvar/287129 ^@ NM_001101426.3(ISPD):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/287130 ^@ NM_004369.3(COL6A3):c.8428A>C (p.Met2810Leu) http://identifiers.org/clinvar/287131 ^@ NM_000070.2(CAPN3):c.1715G>C (p.Arg572Pro) http://identifiers.org/clinvar/287132 ^@ NM_012470.3(TNPO3):c.802C>A (p.Gln268Lys) http://identifiers.org/clinvar/287133 ^@ NM_004369.3(COL6A3):c.6890G>C (p.Gly2297Ala) http://identifiers.org/clinvar/287134 ^@ NM_213599.2(ANO5):c.161T>C (p.Phe54Ser) http://identifiers.org/clinvar/287135 ^@ NM_004369.3(COL6A3):c.1088G>A (p.Arg363His) http://identifiers.org/clinvar/287136 ^@ NM_004369.3(COL6A3):c.3944C>T (p.Ala1315Val) http://identifiers.org/clinvar/287137 ^@ NM_000152.4(GAA):c.614C>T (p.Pro205Leu) http://identifiers.org/clinvar/287138 ^@ NM_000823.3(GHRHR):c.512C>G (p.Thr171Ser) http://identifiers.org/clinvar/287139 ^@ NM_000823.3(GHRHR):c.484A>G (p.Asn162Asp) http://identifiers.org/clinvar/287140 ^@ NM_014780.4(CUL7):c.2472C>T (p.Leu824=) http://identifiers.org/clinvar/287141 ^@ NM_006662.2(SRCAP):c.4563T>A (p.Pro1521=) http://identifiers.org/clinvar/287142 ^@ NM_000425.4(L1CAM):c.963C>T (p.Ala321=) http://identifiers.org/clinvar/287143 ^@ NM_017780.3(CHD7):c.6247C>T (p.Pro2083Ser) http://identifiers.org/clinvar/287144 ^@ NM_198270.3(NHS):c.3452C>T (p.Thr1151Met) http://identifiers.org/clinvar/287145 ^@ NM_003159.2(CDKL5):c.2469C>T (p.Pro823=) http://identifiers.org/clinvar/287146 ^@ NM_022137.5(SMOC1):c.567G>A (p.Pro189=) http://identifiers.org/clinvar/287147 ^@ NM_005045.3(RELN):c.1001G>A (p.Arg334His) http://identifiers.org/clinvar/287148 ^@ NM_018451.4(CENPJ):c.3627_3629delCTA (p.Tyr1210del) http://identifiers.org/clinvar/287149 ^@ NM_053025.3(MYLK):c.1340G>C (p.Trp447Ser) http://identifiers.org/clinvar/287150 ^@ NM_006726.4(LRBA):c.1399A>G (p.Met467Val) http://identifiers.org/clinvar/287151 ^@ NM_000433.3(NCF2):c.113G>A (p.Arg38Gln) http://identifiers.org/clinvar/287152 ^@ NM_015311.2(OBSL1):c.1318G>A (p.Val440Ile) http://identifiers.org/clinvar/287153 ^@ NM_014112.4(TRPS1):c.1743C>G (p.Pro581=) http://identifiers.org/clinvar/287154 ^@ NM_005529.6(HSPG2):c.9235G>A (p.Val3079Met) http://identifiers.org/clinvar/287155 ^@ NM_001128225.2(SLC39A13):c.439C>G (p.Gln147Glu) http://identifiers.org/clinvar/287156 ^@ NM_005708.4(GPC6):c.1129G>A (p.Ala377Thr) http://identifiers.org/clinvar/287157 ^@ NM_000444.5(PHEX):c.33T>C (p.Thr11=) http://identifiers.org/clinvar/287158 ^@ NM_001235.3(SERPINH1):c.267G>A (p.Thr89=) http://identifiers.org/clinvar/287159 ^@ NM_000444.5(PHEX):c.67delC (p.Leu23Trpfs) http://identifiers.org/clinvar/287160 ^@ NM_020754.3(ARHGAP31):c.654C>T (p.Asn218=) http://identifiers.org/clinvar/287161 ^@ NM_020436.4(SALL4):c.1630C>T (p.Pro544Ser) http://identifiers.org/clinvar/287162 ^@ NM_138691.2(TMC1):c.1622T>C (p.Ile541Thr) http://identifiers.org/clinvar/287163 ^@ NM_138691.2(TMC1):c.265T>C (p.Leu89=) http://identifiers.org/clinvar/287164 ^@ NM_017433.4(MYO3A):c.2214T>C (p.Asn738=) http://identifiers.org/clinvar/287165 ^@ NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) http://identifiers.org/clinvar/287166 ^@ NM_001080476.2(GRXCR1):c.753C>T (p.Ser251=) http://identifiers.org/clinvar/287167 ^@ NM_016239.3(MYO15A):c.1196A>G (p.Tyr399Cys) http://identifiers.org/clinvar/287168 ^@ NM_018344.5(SLC29A3):c.74G>A (p.Arg25Gln) http://identifiers.org/clinvar/287169 ^@ NM_001039141.2(TRIOBP):c.3429C>T (p.Ser1143=) http://identifiers.org/clinvar/287170 ^@ NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr) http://identifiers.org/clinvar/287171 ^@ NM_001130823.2(DNMT1):c.3224G>A (p.Arg1075His) http://identifiers.org/clinvar/287172 ^@ NM_002473.5(MYH9):c.3213C>T (p.Ile1071=) http://identifiers.org/clinvar/287173 ^@ NM_206933.2(USH2A):c.8992T>C (p.Ser2998Pro) http://identifiers.org/clinvar/287174 ^@ NM_000445.4(PLEC):c.12827C>T (p.Ser4276Leu) http://identifiers.org/clinvar/287175 ^@ NM_001130987.1(DYSF):c.3968C>A (p.Thr1323Lys) http://identifiers.org/clinvar/287176 ^@ NM_033071.3(SYNE1):c.25840G>T (p.Val8614Leu) http://identifiers.org/clinvar/287177 ^@ NM_033071.3(SYNE1):c.6941C>T (p.Thr2314Ile) http://identifiers.org/clinvar/287178 ^@ NM_015295.2(SMCHD1):c.3636A>G (p.Glu1212=) http://identifiers.org/clinvar/287179 ^@ NM_201253.2(CRB1):c.799_800delGCinsA (p.Ala267Thrfs) http://identifiers.org/clinvar/287180 ^@ NM_001242957.2(MAK):c.1405G>A (p.Glu469Lys) http://identifiers.org/clinvar/287181 ^@ NM_000350.2(ABCA4):c.6193G>C (p.Asp2065His) http://identifiers.org/clinvar/287182 ^@ NM_000554.5(CRX):c.403C>A (p.Pro135Thr) http://identifiers.org/clinvar/287183 ^@ NM_004369.3(COL6A3):c.9498C>T (p.Leu3166=) http://identifiers.org/clinvar/287184 ^@ NM_033071.3(SYNE1):c.24125T>G (p.Phe8042Cys) http://identifiers.org/clinvar/287185 ^@ NM_015295.2(SMCHD1):c.2612C>A (p.Ser871Tyr) http://identifiers.org/clinvar/287186 ^@ NM_001844.4(COL2A1):c.1543C>T (p.Arg515Cys) http://identifiers.org/clinvar/287187 ^@ NM_002335.3(LRP5):c.2737dupT (p.Cys913Leufs) http://identifiers.org/clinvar/287188 ^@ NM_000272.3(NPHP1):c.184G>A (p.Ala62Thr) http://identifiers.org/clinvar/287189 ^@ NM_001134831.1(AHI1):c.3159A>T (p.Ala1053=) http://identifiers.org/clinvar/287190 ^@ NM_001127897.3(RPGRIP1L):c.640G>A (p.Val214Ile) http://identifiers.org/clinvar/287191 ^@ NM_001134831.1(AHI1):c.679G>A (p.Asp227Asn) http://identifiers.org/clinvar/287192 ^@ NM_153704.5(TMEM67):c.107C>T (p.Ala36Val) http://identifiers.org/clinvar/287193 ^@ NM_006329.3(FBLN5):c.621T>C (p.Asp207=) http://identifiers.org/clinvar/287194 ^@ NM_005682.6(ADGRG1):c.97C>T (p.Arg33Cys) http://identifiers.org/clinvar/287195 ^@ NM_012414.3(RAB3GAP2):c.3991C>A (p.Leu1331Ile) http://identifiers.org/clinvar/287196 ^@ NM_012414.3(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) http://identifiers.org/clinvar/287197 ^@ NM_001161581.1(POC1A):c.121G>A (p.Gly41Ser) http://identifiers.org/clinvar/287198 ^@ NM_024757.4(EHMT1):c.32C>T (p.Ala11Val) http://identifiers.org/clinvar/287199 ^@ NM_001042384.1(CEP63):c.905C>G (p.Thr302Ser) http://identifiers.org/clinvar/287200 ^@ NM_001130438.2(SPTAN1):c.3078C>T (p.Pro1026=) http://identifiers.org/clinvar/287201 ^@ NM_138694.3(PKHD1):c.4292G>A (p.Cys1431Tyr) http://identifiers.org/clinvar/287202 ^@ NM_138694.3(PKHD1):c.7967_7968delCA (p.Thr2656Argfs) http://identifiers.org/clinvar/287203 ^@ NM_001165927.1(MKS1):c.1146G>A (p.Pro382=) http://identifiers.org/clinvar/287204 ^@ NM_138694.3(PKHD1):c.3119G>A (p.Arg1040Gln) http://identifiers.org/clinvar/287205 ^@ NM_000492.3(CFTR):c.2042A>T (p.Glu681Val) http://identifiers.org/clinvar/287206 ^@ NM_000784.3(CYP27A1):c.792G>A (p.Val264=) http://identifiers.org/clinvar/287207 ^@ NM_000780.3(CYP7A1):c.1292A>G (p.Lys431Arg) http://identifiers.org/clinvar/287209 ^@ NM_001127701.1(SERPINA1):c.740G>A (p.Arg247His) http://identifiers.org/clinvar/287210 ^@ NM_001376.4(DYNC1H1):c.13764G>A (p.Thr4588=) http://identifiers.org/clinvar/287211 ^@ NM_014363.5(SACS):c.6240T>C (p.Val2080=) http://identifiers.org/clinvar/287212 ^@ NM_181882.2(PRX):c.3772G>T (p.Gly1258Cys) http://identifiers.org/clinvar/287213 ^@ NM_001142294.1(SPG20):c.1697A>G (p.Asn566Ser) http://identifiers.org/clinvar/287214 ^@ NM_003119.3(SPG7):c.1493T>C (p.Leu498Pro) http://identifiers.org/clinvar/287215 ^@ NM_001458.4(FLNC):c.5644A>G (p.Ile1882Val) http://identifiers.org/clinvar/287216 ^@ NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) http://identifiers.org/clinvar/287217 ^@ NM_182914.2(SYNE2):c.12006T>G (p.Asp4002Glu) http://identifiers.org/clinvar/287218 ^@ NM_153638.3(PANK2):c.1074A>C (p.Ser358=) http://identifiers.org/clinvar/287219 ^@ NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) http://identifiers.org/clinvar/287220 ^@ NM_003919.2(SGCE):c.436T>A (p.Leu146Met) http://identifiers.org/clinvar/287221 ^@ NM_000795.3(DRD2):c.667G>A (p.Val223Ile) http://identifiers.org/clinvar/287222 ^@ NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) http://identifiers.org/clinvar/287223 ^@ NM_000445.4(PLEC):c.6329C>T (p.Ala2110Val) http://identifiers.org/clinvar/287224 ^@ NM_004006.2(DMD):c.9938G>A (p.Cys3313Tyr) http://identifiers.org/clinvar/287225 ^@ NM_003159.2(CDKL5):c.2152+10C>G http://identifiers.org/clinvar/287226 ^@ NM_001291858.1(IGF1R):c.1991C>T (p.Ser664Phe) http://identifiers.org/clinvar/287227 ^@ NM_001429.3(EP300):c.5914A>G (p.Met1972Val) http://identifiers.org/clinvar/287228 ^@ NM_000489.4(ATRX):c.1804G>A (p.Gly602Ser) http://identifiers.org/clinvar/287229 ^@ NM_001429.3(EP300):c.4065C>A (p.Tyr1355Ter) http://identifiers.org/clinvar/287230 ^@ NM_002834.4(PTPN11):c.132C>T (p.Ser44=) http://identifiers.org/clinvar/287231 ^@ NM_005270.4(GLI2):c.2990C>G (p.Pro997Arg) http://identifiers.org/clinvar/287232 ^@ NM_000057.3(BLM):c.191A>C (p.Asp64Ala) http://identifiers.org/clinvar/287233 ^@ NM_000124.3(ERCC6):c.1340G>A (p.Arg447Gln) http://identifiers.org/clinvar/287234 ^@ NM_003482.3(KMT2D):c.10232-4C>G http://identifiers.org/clinvar/287235 ^@ NM_024408.3(NOTCH2):c.6464A>C (p.Glu2155Ala) http://identifiers.org/clinvar/287236 ^@ NM_018849.2(ABCB4):c.3498G>A (p.Thr1166=) http://identifiers.org/clinvar/287237 ^@ NM_024408.3(NOTCH2):c.4005+9C>T http://identifiers.org/clinvar/287238 ^@ NM_003742.2(ABCB11):c.667C>T (p.Arg223Cys) http://identifiers.org/clinvar/287239 ^@ NM_000096.3(CP):c.607+6T>A http://identifiers.org/clinvar/287240 ^@ NM_000113.2(TOR1A):c.990C>T (p.Tyr330=) http://identifiers.org/clinvar/287241 ^@ NM_032193.3(RNASEH2C):c.491A>T (p.Asp164Val) http://identifiers.org/clinvar/287242 ^@ NM_001044.4(SLC6A3):c.330G>A (p.Gly110=) http://identifiers.org/clinvar/287243 ^@ NM_000320.2(QDPR):c.29C>T (p.Ala10Val) http://identifiers.org/clinvar/287244 ^@ NM_003919.2(SGCE):c.1134A>C (p.Arg378Ser) http://identifiers.org/clinvar/287245 ^@ NM_000214.2(JAG1):c.841C>T (p.Gln281Ter) http://identifiers.org/clinvar/287246 ^@ NM_001080522.2(CC2D2A):c.2483G>A (p.Arg828Gln) http://identifiers.org/clinvar/287247 ^@ NM_001277313.1(FMN1):c.2929G>A (p.Glu977Lys) http://identifiers.org/clinvar/287248 ^@ NM_005183.3(CACNA1F):c.2809C>T (p.Arg937Cys) http://identifiers.org/clinvar/287249 ^@ NM_001110556.1(FLNA):c.5938C>T (p.Leu1980Phe) http://identifiers.org/clinvar/287250 ^@ NM_000142.4(FGFR3):c.1055C>T (p.Ala352Val) http://identifiers.org/clinvar/287251 ^@ NM_015102.4(NPHP4):c.3445C>T (p.Arg1149Cys) http://identifiers.org/clinvar/287252 ^@ NM_000214.2(JAG1):c.2270dupG (p.Thr758Hisfs) http://identifiers.org/clinvar/287253 ^@ NM_005603.4(ATP8B1):c.1093C>G (p.Gln365Glu) http://identifiers.org/clinvar/287254 ^@ NM_000214.2(JAG1):c.439C>T (p.Gln147Ter) http://identifiers.org/clinvar/287255 ^@ NM_000214.2(JAG1):c.3045C>G (p.Ala1015=) http://identifiers.org/clinvar/287256 ^@ NM_015102.4(NPHP4):c.1204T>A (p.Ser402Thr) http://identifiers.org/clinvar/287257 ^@ NM_000271.4(NPC1):c.2455C>A (p.Arg819Ser) http://identifiers.org/clinvar/287258 ^@ NM_000531.5(OTC):c.122A>T (p.Asp41Val) http://identifiers.org/clinvar/287259 ^@ NM_000052.6(ATP7A):c.327G>A (p.Lys109=) http://identifiers.org/clinvar/287260 ^@ NM_005876.4(SPEG):c.116T>C (p.Val39Ala) http://identifiers.org/clinvar/287261 ^@ NM_005876.4(SPEG):c.984C>T (p.Pro328=) http://identifiers.org/clinvar/287262 ^@ NM_005876.4(SPEG):c.1800G>C (p.Arg600=) http://identifiers.org/clinvar/287263 ^@ NM_005876.4(SPEG):c.6566C>T (p.Pro2189Leu) http://identifiers.org/clinvar/287264 ^@ NM_000402.4(G6PD):c.310C>G (p.Arg104Gly) http://identifiers.org/clinvar/287265 ^@ NM_021120.3(DLG3):c.1145+586G>C http://identifiers.org/clinvar/287266 ^@ NM_198859.3(PRICKLE2):c.1190G>A (p.Arg397Gln) http://identifiers.org/clinvar/287267 ^@ NM_014795.3(ZEB2):c.1446A>C (p.Glu482Asp) http://identifiers.org/clinvar/287268 ^@ NM_003035.2(STIL):c.2070A>T (p.Ser690=) http://identifiers.org/clinvar/287269 ^@ NM_005682.6(ADGRG1):c.487A>C (p.Ser163Arg) http://identifiers.org/clinvar/287270 ^@ NM_014780.4(CUL7):c.4068A>G (p.Glu1356=) http://identifiers.org/clinvar/287271 ^@ NM_003482.3(KMT2D):c.8382C>A (p.Gly2794=) http://identifiers.org/clinvar/287272 ^@ NM_001170629.1(CHD8):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/287273 ^@ NM_002024.5(FMR1):c.1654+10T>A http://identifiers.org/clinvar/287274 ^@ NM_130838.1(UBE3A):c.1177G>T (p.Glu393Ter) http://identifiers.org/clinvar/287275 ^@ NM_000346.3(SOX9):c.918G>A (p.Val306=) http://identifiers.org/clinvar/287276 ^@ NM_000142.4(FGFR3):c.598C>T (p.Arg200Cys) http://identifiers.org/clinvar/287277 ^@ NM_001287.5(CLCN7):c.1137C>T (p.Ile379=) http://identifiers.org/clinvar/287278 ^@ NM_004608.3(TBX6):c.585C>T (p.Val195=) http://identifiers.org/clinvar/287279 ^@ NM_020223.3(FAM20C):c.1096G>A (p.Glu366Lys) http://identifiers.org/clinvar/287280 ^@ NM_020754.3(ARHGAP31):c.435C>G (p.Thr145=) http://identifiers.org/clinvar/287281 ^@ NM_001042702.3(DFNB59):c.49G>A (p.Gly17Arg) http://identifiers.org/clinvar/287282 ^@ NM_001145809.1(MYH14):c.4808G>A (p.Arg1603Gln) http://identifiers.org/clinvar/287283 ^@ NM_005379.3(MYO1A):c.250G>A (p.Ala84Thr) http://identifiers.org/clinvar/287284 ^@ NM_144612.6(LOXHD1):c.4376-2A>G http://identifiers.org/clinvar/287285 ^@ NM_018344.5(SLC29A3):c.128T>G (p.Leu43Arg) http://identifiers.org/clinvar/287286 ^@ NM_000495.4(COL4A5):c.3023A>G (p.Lys1008Arg) http://identifiers.org/clinvar/287287 ^@ NM_206933.2(USH2A):c.4282T>C (p.Ser1428Pro) http://identifiers.org/clinvar/287288 ^@ NM_001038603.2(MARVELD2):c.176C>T (p.Pro59Leu) http://identifiers.org/clinvar/287289 ^@ NM_000260.3(MYO7A):c.1056G>A (p.Leu352=) http://identifiers.org/clinvar/287290 ^@ NM_006744.3(RBP4):c.43A>G (p.Ser15Gly) http://identifiers.org/clinvar/287291 ^@ NM_020366.3(RPGRIP1):c.1588C>T (p.Arg530Cys) http://identifiers.org/clinvar/287292 ^@ NM_001142800.1(EYS):c.988G>A (p.Glu330Lys) http://identifiers.org/clinvar/287293 ^@ NM_001142800.1(EYS):c.1660T>A (p.Cys554Ser) http://identifiers.org/clinvar/287294 ^@ NM_006269.1(RP1):c.382C>A (p.Leu128Ile) http://identifiers.org/clinvar/287295 ^@ NM_002900.2(RBP3):c.63C>T (p.His21=) http://identifiers.org/clinvar/287296 ^@ NM_001142800.1(EYS):c.8429C>T (p.Thr2810Ile) http://identifiers.org/clinvar/287297 ^@ NM_016247.3(IMPG2):c.767A>C (p.Glu256Ala) http://identifiers.org/clinvar/287298 ^@ NM_000088.3(COL1A1):c.2143C>T (p.Pro715Ser) http://identifiers.org/clinvar/287299 ^@ NM_003593.2(FOXN1):c.1195_1225del31 (p.Cys399Profs) http://identifiers.org/clinvar/287300 ^@ NM_014363.5(SACS):c.1917A>G (p.Ala639=) http://identifiers.org/clinvar/287301 ^@ NM_014363.5(SACS):c.1066A>C (p.Ile356Leu) http://identifiers.org/clinvar/287302 ^@ NM_014363.5(SACS):c.9852A>G (p.Thr3284=) http://identifiers.org/clinvar/287303 ^@ NM_006415.3(SPTLC1):c.1411G>A (p.Val471Ile) http://identifiers.org/clinvar/287304 ^@ NM_001190836.1(DCTN1):c.1581C>T (p.Ala527=) http://identifiers.org/clinvar/287305 ^@ NM_030973.3(MED25):c.396C>T (p.Arg132=) http://identifiers.org/clinvar/287306 ^@ NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) http://identifiers.org/clinvar/287307 ^@ NM_017534.5(MYH2):c.5820A>G (p.Glu1940=) http://identifiers.org/clinvar/287308 ^@ NM_001130987.1(DYSF):c.6320C>T (p.Pro2107Leu) http://identifiers.org/clinvar/287309 ^@ NM_001267550.2(TTN):c.41206G>A (p.Ala13736Thr) http://identifiers.org/clinvar/287310 ^@ NM_001165928.3(DAG1):c.1212G>A (p.Thr404=) http://identifiers.org/clinvar/287311 ^@ NM_001271208.1(NEB):c.25169G>T (p.Arg8390Leu) http://identifiers.org/clinvar/287312 ^@ NM_017534.5(MYH2):c.3518G>A (p.Arg1173Gln) http://identifiers.org/clinvar/287313 ^@ NM_000784.3(CYP27A1):c.1419C>T (p.Val473=) http://identifiers.org/clinvar/287314 ^@ NM_000156.5(GAMT):c.367A>G (p.Thr123Ala) http://identifiers.org/clinvar/287315 ^@ NM_000784.3(CYP27A1):c.241C>A (p.Leu81Met) http://identifiers.org/clinvar/287316 ^@ NM_001267550.2(TTN):c.97908G>A (p.Leu32636=) http://identifiers.org/clinvar/287317 ^@ NM_001130987.1(DYSF):c.2148G>A (p.Ala716=) http://identifiers.org/clinvar/287318 ^@ NM_003282.3(TNNI2):c.54G>C (p.Leu18=) http://identifiers.org/clinvar/287319 ^@ NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) http://identifiers.org/clinvar/287320 ^@ NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) http://identifiers.org/clinvar/287321 ^@ NM_024753.4(TTC21B):c.1088-3T>C http://identifiers.org/clinvar/287322 ^@ NM_015069.4(ZNF423):c.142G>A (p.Val48Met) http://identifiers.org/clinvar/287323 ^@ NM_178837.4(DNAAF3):c.1397G>A (p.Arg466Gln) http://identifiers.org/clinvar/287324 ^@ NM_001080463.1(DYNC2H1):c.5496G>A (p.Ser1832=) http://identifiers.org/clinvar/287325 ^@ NM_004984.2(KIF5A):c.1150G>C (p.Gly384Arg) http://identifiers.org/clinvar/287326 ^@ NM_024596.4(MCPH1):c.530A>C (p.Glu177Ala) http://identifiers.org/clinvar/287327 ^@ NM_004560.3(ROR2):c.2684A>G (p.Asp895Gly) http://identifiers.org/clinvar/287328 ^@ NM_006019.3(TCIRG1):c.1209G>A (p.Met403Ile) http://identifiers.org/clinvar/287329 ^@ NM_144988.3(ALG14):c.113G>T (p.Ser38Ile) http://identifiers.org/clinvar/287330 ^@ NM_001127221.1(CACNA1A):c.5319G>A (p.Lys1773=) http://identifiers.org/clinvar/287331 ^@ NM_001143979.1(NDE1):c.302C>T (p.Ala101Val) http://identifiers.org/clinvar/287332 ^@ NM_002335.3(LRP5):c.4484C>T (p.Pro1495Leu) http://identifiers.org/clinvar/287333 ^@ NM_000275.2(OCA2):c.37G>A (p.Gly13Ser) http://identifiers.org/clinvar/287334 ^@ NM_005183.3(CACNA1F):c.2797G>A (p.Gly933Ser) http://identifiers.org/clinvar/287335 ^@ NM_032119.3(ADGRV1):c.6229G>A (p.Glu2077Lys) http://identifiers.org/clinvar/287336 ^@ NM_032119.3(ADGRV1):c.684T>C (p.Asn228=) http://identifiers.org/clinvar/287337 ^@ NM_002335.3(LRP5):c.2124G>A (p.Ser708=) http://identifiers.org/clinvar/287338 ^@ NM_020184.3(CNNM4):c.325C>T (p.Leu109Phe) http://identifiers.org/clinvar/287339 ^@ NM_025074.6(FRAS1):c.2862G>A (p.Thr954=) http://identifiers.org/clinvar/287340 ^@ NM_003322.5(TULP1):c.846G>A (p.Pro282=) http://identifiers.org/clinvar/287341 ^@ NM_001793.5(CDH3):c.1785C>T (p.Val595=) http://identifiers.org/clinvar/287342 ^@ NM_006073.3(TRDN):c.2135C>T (p.Pro712Leu) http://identifiers.org/clinvar/287343 ^@ NM_001142617.1(STRA6):c.357C>T (p.Pro119=) http://identifiers.org/clinvar/287344 ^@ NM_006432.3(NPC2):c.453C>G (p.Leu151=) http://identifiers.org/clinvar/287345 ^@ NM_000272.3(NPHP1):c.1121C>T (p.Thr374Ile) http://identifiers.org/clinvar/287346 ^@ NM_000392.4(ABCC2):c.3888C>G (p.Ser1296Arg) http://identifiers.org/clinvar/287347 ^@ NM_000286.2(PEX12):c.722G>T (p.Gly241Val) http://identifiers.org/clinvar/287348 ^@ NM_201378.3(PLEC):c.51G>A (p.Glu17=) http://identifiers.org/clinvar/287349 ^@ NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val) http://identifiers.org/clinvar/287350 ^@ NM_000540.2(RYR1):c.3047G>A (p.Arg1016Gln) http://identifiers.org/clinvar/287351 ^@ NM_139343.2(BIN1):c.1353C>T (p.Ala451=) http://identifiers.org/clinvar/287352 ^@ NM_001458.4(FLNC):c.2390-8C>G http://identifiers.org/clinvar/287353 ^@ NM_033071.3(SYNE1):c.18873C>T (p.Phe6291=) http://identifiers.org/clinvar/287354 ^@ NM_001035.2(RYR2):c.11272A>G (p.Thr3758Ala) http://identifiers.org/clinvar/287355 ^@ NM_001267550.2(TTN):c.49011T>G (p.Cys16337Trp) http://identifiers.org/clinvar/287356 ^@ NM_001267550.2(TTN):c.78383G>A (p.Arg26128His) http://identifiers.org/clinvar/287357 ^@ NM_000124.3(ERCC6):c.3745G>A (p.Asp1249Asn) http://identifiers.org/clinvar/287358 ^@ NM_018849.2(ABCB4):c.3629C>G (p.Ser1210Ter) http://identifiers.org/clinvar/287359 ^@ NM_000780.3(CYP7A1):c.779G>T (p.Arg260Leu) http://identifiers.org/clinvar/287360 ^@ NM_001080522.2(CC2D2A):c.415T>C (p.Leu139=) http://identifiers.org/clinvar/287361 ^@ NM_022437.2(ABCG8):c.1756+6G>A http://identifiers.org/clinvar/287362 ^@ NM_003742.2(ABCB11):c.3548T>C (p.Ile1183Thr) http://identifiers.org/clinvar/287363 ^@ NM_001360.2(DHCR7):c.729C>T (p.Pro243=) http://identifiers.org/clinvar/287364 ^@ NM_003742.2(ABCB11):c.3692G>A (p.Arg1231Gln) http://identifiers.org/clinvar/287365 ^@ NM_003742.2(ABCB11):c.3767C>G (p.Thr1256Arg) http://identifiers.org/clinvar/287366 ^@ NM_017929.5(PEX26):c.409G>C (p.Val137Leu) http://identifiers.org/clinvar/287367 ^@ NM_014112.4(TRPS1):c.1195C>T (p.Leu399Phe) http://identifiers.org/clinvar/287368 ^@ NM_014918.4(CHSY1):c.986A>G (p.His329Arg) http://identifiers.org/clinvar/287369 ^@ NM_153717.2(EVC):c.1349C>T (p.Ala450Val) http://identifiers.org/clinvar/287370 ^@ NM_003839.3(TNFRSF11A):c.718A>G (p.Lys240Glu) http://identifiers.org/clinvar/287371 ^@ NM_004836.6(EIF2AK3):c.744C>T (p.Val248=) http://identifiers.org/clinvar/287372 ^@ NM_130468.3(CHST14):c.941G>A (p.Arg314Gln) http://identifiers.org/clinvar/287373 ^@ NM_178443.2(FERMT3):c.568C>G (p.Gln190Glu) http://identifiers.org/clinvar/287374 ^@ NM_014319.4(LEMD3):c.907G>T (p.Gly303Cys) http://identifiers.org/clinvar/287375 ^@ NM_017617.4(NOTCH1):c.5126T>C (p.Leu1709Pro) http://identifiers.org/clinvar/287376 ^@ NM_018100.3(EFHC1):c.1820A>G (p.Asn607Ser) http://identifiers.org/clinvar/287377 ^@ NM_001909.4(CTSD):c.972+10G>A http://identifiers.org/clinvar/287378 ^@ NM_001110556.1(FLNA):c.1110C>T (p.Phe370=) http://identifiers.org/clinvar/287379 ^@ NM_006726.4(LRBA):c.8584C>T (p.Arg2862Cys) http://identifiers.org/clinvar/287380 ^@ NM_000074.2(CD40LG):c.38C>T (p.Ala13Val) http://identifiers.org/clinvar/287381 ^@ NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) http://identifiers.org/clinvar/287382 ^@ NM_016239.3(MYO15A):c.932A>C (p.Asp311Ala) http://identifiers.org/clinvar/287383 ^@ NM_022124.5(CDH23):c.4782C>T (p.Arg1594=) http://identifiers.org/clinvar/287384 ^@ NM_144612.6(LOXHD1):c.1944C>T (p.Ser648=) http://identifiers.org/clinvar/287385 ^@ NM_001453.2(FOXC1):c.593_610del18 (p.Gly198_Pro203del) http://identifiers.org/clinvar/287386 ^@ NM_001142769.1(PCDH15):c.5297C>T (p.Ala1766Val) http://identifiers.org/clinvar/287387 ^@ NM_201380.3(PLEC):c.1694C>T (p.Ala565Val) http://identifiers.org/clinvar/287388 ^@ NM_001267550.2(TTN):c.71348G>A (p.Arg23783His) http://identifiers.org/clinvar/287389 ^@ NM_000445.4(PLEC):c.13551C>T (p.Arg4517=) http://identifiers.org/clinvar/287390 ^@ NM_206933.2(USH2A):c.10613G>A (p.Arg3538Gln) http://identifiers.org/clinvar/287391 ^@ NM_173477.4(USH1G):c.1311delG (p.Lys438Argfs) http://identifiers.org/clinvar/287392 ^@ NM_006009.3(TUBA1A):c.791G>A (p.Arg264His) http://identifiers.org/clinvar/287393 ^@ NM_017617.4(NOTCH1):c.1380G>A (p.Pro460=) http://identifiers.org/clinvar/287394 ^@ NM_000297.3(PKD2):c.784G>A (p.Val262Met) http://identifiers.org/clinvar/287395 ^@ NM_198525.2(KIF7):c.2219A>G (p.Gln740Arg) http://identifiers.org/clinvar/287396 ^@ NM_001243766.1(POMGNT1):c.1536T>C (p.Phe512=) http://identifiers.org/clinvar/287397 ^@ NM_006031.5(PCNT):c.5855C>T (p.Ala1952Val) http://identifiers.org/clinvar/287398 ^@ NM_001191061.1(SLC25A22):c.379C>T (p.Leu127=) http://identifiers.org/clinvar/287399 ^@ NM_014191.3(SCN8A):c.4278G>A (p.Arg1426=) http://identifiers.org/clinvar/287400 ^@ NM_007126.3(VCP):c.954C>T (p.Gly318=) http://identifiers.org/clinvar/287401 ^@ NM_001080522.2(CC2D2A):c.2400A>G (p.Lys800=) http://identifiers.org/clinvar/287402 ^@ NM_005045.3(RELN):c.565C>T (p.His189Tyr) http://identifiers.org/clinvar/287403 ^@ NM_006059.3(LAMC3):c.4698C>T (p.Ser1566=) http://identifiers.org/clinvar/287404 ^@ NM_133259.3(LRPPRC):c.719C>T (p.Thr240Ile) http://identifiers.org/clinvar/287405 ^@ NM_004589.3(SCO1):c.170G>C (p.Arg57Pro) http://identifiers.org/clinvar/287406 ^@ NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) http://identifiers.org/clinvar/287407 ^@ NM_006265.2(RAD21):c.539A>C (p.Asp180Ala) http://identifiers.org/clinvar/287408 ^@ NM_015384.4(NIPBL):c.2727T>C (p.Gly909=) http://identifiers.org/clinvar/287409 ^@ NM_133433.3(NIPBL):c.592delC (p.His198Ilefs) http://identifiers.org/clinvar/287410 ^@ NM_001127221.1(CACNA1A):c.796G>A (p.Gly266Ser) http://identifiers.org/clinvar/287411 ^@ NM_001111.4(ADAR):c.2496+9G>A http://identifiers.org/clinvar/287412 ^@ NM_002609.3(PDGFRB):c.2463C>T (p.Asn821=) http://identifiers.org/clinvar/287413 ^@ NM_002206.2(ITGA7):c.2035C>A (p.Leu679Met) http://identifiers.org/clinvar/287414 ^@ NM_000152.4(GAA):c.1607A>G (p.Asn536Ser) http://identifiers.org/clinvar/287415 ^@ NM_000426.3(LAMA2):c.7439+1G>A http://identifiers.org/clinvar/287416 ^@ NM_201383.2(PLEC):c.13035G>A (p.Val4345=) http://identifiers.org/clinvar/287417 ^@ NM_002206.2(ITGA7):c.537G>A (p.Gly179=) http://identifiers.org/clinvar/287418 ^@ NM_001267550.2(TTN):c.55315G>A (p.Glu18439Lys) http://identifiers.org/clinvar/287419 ^@ NM_001271208.1(NEB):c.17541dupA (p.Tyr5848Ilefs) http://identifiers.org/clinvar/287420 ^@ NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val) http://identifiers.org/clinvar/287421 ^@ NM_001267550.2(TTN):c.28596A>G (p.Ile9532Met) http://identifiers.org/clinvar/287422 ^@ NM_001271208.1(NEB):c.294+2T>C http://identifiers.org/clinvar/287423 ^@ NM_001271208.1(NEB):c.6505A>G (p.Lys2169Glu) http://identifiers.org/clinvar/287424 ^@ NM_001267550.2(TTN):c.91966A>G (p.Ile30656Val) http://identifiers.org/clinvar/287425 ^@ NM_000070.2(CAPN3):c.797T>C (p.Ile266Thr) http://identifiers.org/clinvar/287426 ^@ NM_000036.2(AMPD1):c.1290C>T (p.Tyr430=) http://identifiers.org/clinvar/287427 ^@ NM_015884.3(MBTPS2):c.739T>G (p.Leu247Val) http://identifiers.org/clinvar/287428 ^@ NM_005676.4(RBM10):c.1492C>T (p.Arg498Cys) http://identifiers.org/clinvar/287429 ^@ NM_000276.3(OCRL):c.471T>A (p.Ser157=) http://identifiers.org/clinvar/287430 ^@ NM_000299.3(PKP1):c.1133G>A (p.Arg378His) http://identifiers.org/clinvar/287431 ^@ NM_014252.3(SLC25A15):c.269A>T (p.Gln90Leu) http://identifiers.org/clinvar/287432 ^@ NM_001303.3(COX10):c.781G>T (p.Ala261Ser) http://identifiers.org/clinvar/287433 ^@ NM_000321.2(RB1):c.2489+1G>C http://identifiers.org/clinvar/287434 ^@ NM_016239.3(MYO15A):c.2790C>T (p.Asp930=) http://identifiers.org/clinvar/287435 ^@ NM_016239.3(MYO15A):c.3023C>G (p.Thr1008Ser) http://identifiers.org/clinvar/287436 ^@ NM_000875.4(IGF1R):c.4038C>T (p.Tyr1346=) http://identifiers.org/clinvar/287437 ^@ NM_000451.3(SHOX):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/287438 ^@ NM_004006.2(DMD):c.3747G>A (p.Trp1249Ter) http://identifiers.org/clinvar/287440 ^@ NM_001297.4(CNGB1):c.1644T>C (p.Asp548=) http://identifiers.org/clinvar/287441 ^@ NM_182961.3(SYNE1):c.16337C>T (p.Thr5446Ile) http://identifiers.org/clinvar/287442 ^@ NM_004369.3(COL6A3):c.1939T>A (p.Ser647Thr) http://identifiers.org/clinvar/287443 ^@ NM_001849.3(COL6A2):c.288C>T (p.Tyr96=) http://identifiers.org/clinvar/287444 ^@ NM_001848.2(COL6A1):c.1273-4T>C http://identifiers.org/clinvar/287445 ^@ NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg) http://identifiers.org/clinvar/287446 ^@ NM_001165928.3(DAG1):c.804G>A (p.Gln268=) http://identifiers.org/clinvar/287447 ^@ NM_033071.3(SYNE1):c.22924C>T (p.Arg7642Cys) http://identifiers.org/clinvar/287448 ^@ NM_001128227.2(GNE):c.1163+2dupT http://identifiers.org/clinvar/287449 ^@ NM_000070.2(CAPN3):c.232C>A (p.Pro78Thr) http://identifiers.org/clinvar/287450 ^@ NM_001101426.3(ISPD):c.200A>C (p.Gln67Pro) http://identifiers.org/clinvar/287451 ^@ NM_033071.3(SYNE1):c.7170T>G (p.Thr2390=) http://identifiers.org/clinvar/287452 ^@ NM_001256850.1(TTN):c.97638C>T (p.Tyr32546=) http://identifiers.org/clinvar/287453 ^@ NM_000337.5(SGCD):c.383-17_383-10dupCTCTCTAT http://identifiers.org/clinvar/287454 ^@ NM_001356.4(DDX3X):c.1712T>C (p.Leu571Ser) http://identifiers.org/clinvar/287456 ^@ NM_181714.3(LCA5):c.1062C>G (p.Tyr354Ter) http://identifiers.org/clinvar/287457 ^@ NM_004006.2(DMD):c.1956delT (p.Asp652Glufs) http://identifiers.org/clinvar/287458 ^@ NM_001278074.1(COL5A1):c.1207G>T (p.Glu403Ter) http://identifiers.org/clinvar/287459 ^@ NM_001034116.1(EIF2B4):c.1399C>T (p.Arg467Trp) http://identifiers.org/clinvar/287460 ^@ NM_015175.2(NBEAL2):c.7658G>A (p.Gly2553Glu) http://identifiers.org/clinvar/287461 ^@ NM_183357.2(ADCY5):c.1339G>C (p.Asp447His) http://identifiers.org/clinvar/287462 ^@ NM_015175.2(NBEAL2):c.7442A>G (p.Asp2481Gly) http://identifiers.org/clinvar/287463 ^@ NM_007099.3(ACP1):c.149G>A (p.Trp50Ter) http://identifiers.org/clinvar/287464 ^@ NM_032504.1(UNC80):c.8500delT (p.Trp2834Glyfs) http://identifiers.org/clinvar/287465 ^@ NM_033071.3(SYNE1):c.1523T>C (p.Met508Thr) http://identifiers.org/clinvar/287466 ^@ NM_020988.2(GNAO1):c.118G>C (p.Gly40Arg) http://identifiers.org/clinvar/287467 ^@ NM_033071.3(SYNE1):c.22858_22886del29 (p.Thr7620Profs) http://identifiers.org/clinvar/287468 ^@ NM_033071.3(SYNE1):c.14323C>G (p.Leu4775Val) http://identifiers.org/clinvar/287469 ^@ NM_006982.2(ALX1):c.191G>T (p.Arg64Leu) http://identifiers.org/clinvar/287470 ^@ NM_005027.3(PIK3R2):c.55C>A (p.Arg19=) http://identifiers.org/clinvar/287471 ^@ NM_020717.3(SHROOM4):c.3414delAinsGGAG (p.Glu1151_Ala1152insGlu) http://identifiers.org/clinvar/287472 ^@ NM_001039141.2(TRIOBP):c.6472+19_6472+20insA http://identifiers.org/clinvar/287473 ^@ NM_001130987.1(DYSF):c.962C>T (p.Ser321Phe) http://identifiers.org/clinvar/287474 ^@ NM_001130987.1(DYSF):c.3343C>T (p.Arg1115Cys) http://identifiers.org/clinvar/287475 ^@ NM_001127255.1(NLRP7):c.1532A>G (p.Lys511Arg) http://identifiers.org/clinvar/287476 ^@ NM_000642.2(AGL):c.3884G>A (p.Arg1295His) http://identifiers.org/clinvar/287477 ^@ NM_000372.4(TYR):c.1037-10dupT http://identifiers.org/clinvar/287478 ^@ NM_138694.3(PKHD1):c.8997A>G (p.Pro2999=) http://identifiers.org/clinvar/287479 ^@ NM_002335.3(LRP5):c.-19delC http://identifiers.org/clinvar/287480 ^@ NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) http://identifiers.org/clinvar/287481 ^@ NM_001271208.1(NEB):c.328G>A (p.Gly110Arg) http://identifiers.org/clinvar/287482 ^@ NM_017890.4(VPS13B):c.10596C>T (p.Tyr3532=) http://identifiers.org/clinvar/287483 ^@ NM_000098.2(CPT2):c.577C>T (p.Arg193Cys) http://identifiers.org/clinvar/287484 ^@ NM_000370.3(TTPA):c.555T>A (p.Asp185Glu) http://identifiers.org/clinvar/287485 ^@ NM_001042432.1(CLN3):c.1198-5C>T http://identifiers.org/clinvar/287486 ^@ NM_006343.2(MERTK):c.61+19G>A http://identifiers.org/clinvar/287487 ^@ NM_020631.4(PLEKHG5):c.2576G>A (p.Arg859His) http://identifiers.org/clinvar/287488 ^@ NM_020631.4(PLEKHG5):c.2827G>C (p.Gly943Arg) http://identifiers.org/clinvar/287489 ^@ NM_000426.3(LAMA2):c.817A>T (p.Arg273Ter) http://identifiers.org/clinvar/287490 ^@ NM_015311.2(OBSL1):c.397G>C (p.Gly133Arg) http://identifiers.org/clinvar/287491 ^@ NM_002181.3(IHH):c.1169G>A (p.Arg390His) http://identifiers.org/clinvar/287492 ^@ NM_006208.2(ENPP1):c.2088C>T (p.Thr696=) http://identifiers.org/clinvar/287493 ^@ NM_030984.3(TBXAS1):c.1352C>A (p.Thr451Asn) http://identifiers.org/clinvar/287494 ^@ NM_000088.3(COL1A1):c.2535A>C (p.Gly845=) http://identifiers.org/clinvar/287495 ^@ NM_000392.4(ABCC2):c.1007C>T (p.Thr336Met) http://identifiers.org/clinvar/287496 ^@ NM_000214.2(JAG1):c.3329A>C (p.Asn1110Thr) http://identifiers.org/clinvar/287497 ^@ NM_017777.3(MKS1):c.1414C>T (p.Arg472Cys) http://identifiers.org/clinvar/287498 ^@ NM_000137.2(FAH):c.1205G>A (p.Arg402His) http://identifiers.org/clinvar/287499 ^@ NM_001079867.1(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) http://identifiers.org/clinvar/287500 ^@ NM_018849.2(ABCB4):c.3554G>T (p.Gly1185Val) http://identifiers.org/clinvar/287501 ^@ NM_018849.2(ABCB4):c.1472G>T (p.Cys491Phe) http://identifiers.org/clinvar/287502 ^@ NM_000466.2(PEX1):c.891A>G (p.Ile297Met) http://identifiers.org/clinvar/287503 ^@ NM_012254.2(SLC27A5):c.368G>A (p.Arg123Gln) http://identifiers.org/clinvar/287504 ^@ NM_000319.4(PEX5):c.1267C>T (p.Arg423Trp) http://identifiers.org/clinvar/287505 ^@ NM_138694.3(PKHD1):c.11007G>A (p.Ser3669=) http://identifiers.org/clinvar/287506 ^@ NM_153240.4(NPHP3):c.892A>T (p.Asn298Tyr) http://identifiers.org/clinvar/287507 ^@ NM_001257360.1(AMPD2):c.751C>T (p.Arg251Trp) http://identifiers.org/clinvar/287508 ^@ NM_153638.3(PANK2):c.131G>T (p.Arg44Leu) http://identifiers.org/clinvar/287509 ^@ NM_018941.3(CLN8):c.47T>G (p.Leu16Arg) http://identifiers.org/clinvar/287510 ^@ NM_000478.5(ALPL):c.920C>T (p.Pro307Leu) http://identifiers.org/clinvar/287511 ^@ NM_054012.3(ASS1):c.1101G>A (p.Leu367=) http://identifiers.org/clinvar/287512 ^@ NM_001918.3(DBT):c.1282-11_1282-5delTTCATTT http://identifiers.org/clinvar/287513 ^@ NM_001031847.2(CPT1A):c.495C>T (p.Tyr165=) http://identifiers.org/clinvar/287514 ^@ NM_000018.3(ACADVL):c.1754C>T (p.Ala585Val) http://identifiers.org/clinvar/287515 ^@ NM_006261.4(PROP1):c.630A>C (p.Pro210=) http://identifiers.org/clinvar/287516 ^@ NM_014625.3(NPHS2):c.96C>A (p.Ser32Arg) http://identifiers.org/clinvar/287517 ^@ NM_005562.2(LAMC2):c.1899G>C (p.Leu633=) http://identifiers.org/clinvar/287518 ^@ NM_014363.5(SACS):c.11703T>C (p.Asn3901=) http://identifiers.org/clinvar/287519 ^@ NM_138694.3(PKHD1):c.11836T>C (p.Leu3946=) http://identifiers.org/clinvar/287520 ^@ NM_001199107.1(TBC1D24):c.1525+6C>T http://identifiers.org/clinvar/287521 ^@ NM_000744.6(CHRNA4):c.1495G>A (p.Ala499Thr) http://identifiers.org/clinvar/287522 ^@ NM_001199107.1(TBC1D24):c.972A>C (p.Ser324=) http://identifiers.org/clinvar/287523 ^@ NM_005477.2(HCN4):c.2864C>T (p.Pro955Leu) http://identifiers.org/clinvar/287524 ^@ NM_005529.6(HSPG2):c.4601C>G (p.Pro1534Arg) http://identifiers.org/clinvar/287525 ^@ NM_017653.3(DYM):c.620+4T>G http://identifiers.org/clinvar/287526 ^@ NM_018965.3(TREM2):c.314C>T (p.Ala105Val) http://identifiers.org/clinvar/287527 ^@ NM_005529.6(HSPG2):c.9291C>T (p.Tyr3097=) http://identifiers.org/clinvar/287528 ^@ NM_001080463.1(DYNC2H1):c.4916C>A (p.Thr1639Lys) http://identifiers.org/clinvar/287529 ^@ NM_015170.2(SULF1):c.2531G>A (p.Arg844Lys) http://identifiers.org/clinvar/287530 ^@ NM_001017995.2(SH3PXD2B):c.2456G>A (p.Arg819Gln) http://identifiers.org/clinvar/287531 ^@ NM_015311.2(OBSL1):c.4588C>T (p.Leu1530=) http://identifiers.org/clinvar/287532 ^@ NM_001017420.2(ESCO2):c.577C>T (p.Arg193Trp) http://identifiers.org/clinvar/287533 ^@ NM_001844.4(COL2A1):c.1743T>C (p.Pro581=) http://identifiers.org/clinvar/287534 ^@ NM_194318.3(B3GLCT):c.1438C>T (p.Pro480Ser) http://identifiers.org/clinvar/287535 ^@ NM_001698.2(AUH):c.473T>A (p.Val158Asp) http://identifiers.org/clinvar/287536 ^@ NM_001698.2(AUH):c.655+3A>C http://identifiers.org/clinvar/287537 ^@ NM_024596.4(MCPH1):c.90A>G (p.Thr30=) http://identifiers.org/clinvar/287538 ^@ NM_000388.3(CASR):c.2108T>C (p.Leu703Pro) http://identifiers.org/clinvar/287539 ^@ NM_002241.4(KCNJ10):c.615A>G (p.Lys205=) http://identifiers.org/clinvar/287540 ^@ NM_000368.4(TSC1):c.1038T>C (p.Leu346=) http://identifiers.org/clinvar/287541 ^@ NM_000368.4(TSC1):c.947G>A (p.Arg316Gln) http://identifiers.org/clinvar/287542 ^@ NM_001127221.1(CACNA1A):c.1392G>A (p.Glu464=) http://identifiers.org/clinvar/287543 ^@ NM_005045.3(RELN):c.2086T>C (p.Ser696Pro) http://identifiers.org/clinvar/287544 ^@ NM_002977.3(SCN9A):c.4908C>T (p.Ile1636=) http://identifiers.org/clinvar/287546 ^@ NM_000833.4(GRIN2A):c.2165C>T (p.Thr722Met) http://identifiers.org/clinvar/287547 ^@ NM_198859.3(PRICKLE2):c.1035C>G (p.Gly345=) http://identifiers.org/clinvar/287548 ^@ NM_001184880.1(PCDH19):c.2617-7A>G http://identifiers.org/clinvar/287549 ^@ NM_207346.2(TSEN54):c.1035G>C (p.Lys345Asn) http://identifiers.org/clinvar/287550 ^@ NM_032119.3(ADGRV1):c.12176C>T (p.Thr4059Met) http://identifiers.org/clinvar/287551 ^@ NM_005682.6(ADGRG1):c.1530C>G (p.Thr510=) http://identifiers.org/clinvar/287552 ^@ NM_018136.4(ASPM):c.5984_5986delAAG (p.Lys1995_Ala1996delinsThr) http://identifiers.org/clinvar/287553 ^@ NM_014141.5(CNTNAP2):c.3969T>G (p.Asp1323Glu) http://identifiers.org/clinvar/287554 ^@ NM_000548.4(TSC2):c.1134G>A (p.Pro378=) http://identifiers.org/clinvar/287555 ^@ NM_014191.3(SCN8A):c.5577C>T (p.Ser1859=) http://identifiers.org/clinvar/287556 ^@ NM_018328.4(MBD5):c.2010C>G (p.Leu670=) http://identifiers.org/clinvar/287557 ^@ NM_001130438.2(SPTAN1):c.2666C>G (p.Ser889Cys) http://identifiers.org/clinvar/287558 ^@ NM_002247.3(KCNMA1):c.89A>G (p.His30Arg) http://identifiers.org/clinvar/287559 ^@ NM_002693.2(POLG):c.2632G>T (p.Val878Leu) http://identifiers.org/clinvar/287560 ^@ NM_174963.3(ST3GAL3):c.1241A>G (p.Lys414Arg) http://identifiers.org/clinvar/287561 ^@ NM_018451.4(CENPJ):c.3216+6C>T http://identifiers.org/clinvar/287562 ^@ NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) http://identifiers.org/clinvar/287563 ^@ NM_003688.3(CASK):c.344A>T (p.Glu115Val) http://identifiers.org/clinvar/287564 ^@ NM_021072.3(HCN1):c.223_224insGCG (p.Gly74_Glu75insGly) http://identifiers.org/clinvar/287565 ^@ NM_021072.3(HCN1):c.255G>T (p.Glu85Asp) http://identifiers.org/clinvar/287566 ^@ NM_001909.4(CTSD):c.1162G>A (p.Val388Ile) http://identifiers.org/clinvar/287567 ^@ NM_005270.4(GLI2):c.2085G>A (p.Thr695=) http://identifiers.org/clinvar/287568 ^@ NM_000875.4(IGF1R):c.4096A>C (p.Thr1366Pro) http://identifiers.org/clinvar/287569 ^@ NM_205850.2(SLC24A5):c.1442T>C (p.Leu481Ser) http://identifiers.org/clinvar/287570 ^@ NM_015629.3(PRPF31):c.540G>A (p.Ser180=) http://identifiers.org/clinvar/287571 ^@ NM_000843.3(GRM6):c.1653C>G (p.Asp551Glu) http://identifiers.org/clinvar/287572 ^@ NM_004727.2(SLC24A1):c.1859C>T (p.Ala620Val) http://identifiers.org/clinvar/287573 ^@ NM_205850.2(SLC24A5):c.347C>G (p.Ala116Gly) http://identifiers.org/clinvar/287574 ^@ NM_207361.5(FREM2):c.6860T>C (p.Ile2287Thr) http://identifiers.org/clinvar/287575 ^@ NM_001031710.2(KLHL7):c.1533C>T (p.Val511=) http://identifiers.org/clinvar/287576 ^@ NM_032119.3(ADGRV1):c.5830G>T (p.Asp1944Tyr) http://identifiers.org/clinvar/287577 ^@ NM_016247.3(IMPG2):c.1794C>T (p.Asp598=) http://identifiers.org/clinvar/287578 ^@ NM_001271620.2(ZNF423):c.206A>T (p.Glu69Val) http://identifiers.org/clinvar/287579 ^@ NM_022124.5(CDH23):c.5470C>T (p.Arg1824Cys) http://identifiers.org/clinvar/287580 ^@ NM_001142564.1(CNGA1):c.1250A>G (p.Lys417Arg) http://identifiers.org/clinvar/287581 ^@ NM_207361.5(FREM2):c.2133G>A (p.Met711Ile) http://identifiers.org/clinvar/287582 ^@ NM_022089.3(ATP13A2):c.841-4A>G http://identifiers.org/clinvar/287583 ^@ NM_001271620.2(ZNF423):c.2642C>T (p.Ser881Leu) http://identifiers.org/clinvar/287584 ^@ NM_201253.2(CRB1):c.1470C>T (p.Gly490=) http://identifiers.org/clinvar/287585 ^@ NM_032180.2(FAM161A):c.1761A>G (p.Ser587=) http://identifiers.org/clinvar/287586 ^@ NM_000528.3(MAN2B1):c.2782G>C (p.Gly928Arg) http://identifiers.org/clinvar/287587 ^@ NM_000153.3(GALC):c.1717A>G (p.Thr573Ala) http://identifiers.org/clinvar/287588 ^@ NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) http://identifiers.org/clinvar/287589 ^@ NM_000095.2(COMP):c.366C>T (p.Gly122=) http://identifiers.org/clinvar/287590 ^@ NM_001110556.1(FLNA):c.3054C>G (p.Cys1018Trp) http://identifiers.org/clinvar/287591 ^@ NM_002968.2(SALL1):c.3915C>T (p.Asn1305=) http://identifiers.org/clinvar/287592 ^@ NM_001110556.1(FLNA):c.651C>T (p.Asp217=) http://identifiers.org/clinvar/287593 ^@ NM_001127897.3(RPGRIP1L):c.3505G>T (p.Asp1169Tyr) http://identifiers.org/clinvar/287594 ^@ NM_023110.2(FGFR1):c.615C>T (p.Gly205=) http://identifiers.org/clinvar/287595 ^@ NM_130468.3(CHST14):c.946C>T (p.Pro316Ser) http://identifiers.org/clinvar/287596 ^@ NM_001015880.1(PAPSS2):c.809G>A (p.Gly270Asp) http://identifiers.org/clinvar/287597 ^@ NM_003839.3(TNFRSF11A):c.1254T>G (p.Ser418=) http://identifiers.org/clinvar/287598 ^@ NM_000414.3(HSD17B4):c.2176C>G (p.Leu726Val) http://identifiers.org/clinvar/287599 ^@ NM_024729.3(MYH14):c.2309C>T (p.Ala770Val) http://identifiers.org/clinvar/287600 ^@ NM_017433.4(MYO3A):c.693T>C (p.Ala231=) http://identifiers.org/clinvar/287601 ^@ NM_006383.3(CIB2):c.78C>T (p.Asp26=) http://identifiers.org/clinvar/287602 ^@ NM_002473.5(MYH9):c.1566G>A (p.Pro522=) http://identifiers.org/clinvar/287603 ^@ NM_020436.4(SALL4):c.2349A>G (p.Thr783=) http://identifiers.org/clinvar/287604 ^@ NM_194248.2(OTOF):c.152C>T (p.Pro51Leu) http://identifiers.org/clinvar/287605 ^@ NM_001146077.1(CLDN14):c.406G>A (p.Val136Ile) http://identifiers.org/clinvar/287606 ^@ NM_005219.4(DIAPH1):c.2902C>T (p.Arg968Cys) http://identifiers.org/clinvar/287607 ^@ NM_016363.5(GP6):c.479G>A (p.Trp160Ter) http://identifiers.org/clinvar/287608 ^@ NM_000719.6(CACNA1C):c.3671delT (p.Leu1224Argfs) http://identifiers.org/clinvar/287609 ^@ NM_005629.3(SLC6A8):c.1516G>A (p.Asp506Asn) http://identifiers.org/clinvar/287610 ^@ NM_006662.2(SRCAP):c.2801A>T (p.Asp934Val) http://identifiers.org/clinvar/287611 ^@ NM_015338.5(ASXL1):c.686C>T (p.Pro229Leu) http://identifiers.org/clinvar/287612 ^@ NM_001396.3(DYRK1A):c.1901A>G (p.Asn634Ser) http://identifiers.org/clinvar/287613 ^@ NM_080680.2(COL11A2):c.4149A>G (p.Thr1383=) http://identifiers.org/clinvar/287614 ^@ NM_000180.3(GUCY2D):c.1713A>G (p.Ile571Met) http://identifiers.org/clinvar/287615 ^@ NM_000350.2(ABCA4):c.596C>T (p.Ala199Val) http://identifiers.org/clinvar/287616 ^@ NM_003322.5(TULP1):c.1570G>A (p.Ala524Thr) http://identifiers.org/clinvar/287617 ^@ NM_001195794.1(CLRN1):c.73G>T (p.Val25Leu) http://identifiers.org/clinvar/287618 ^@ NM_004643.3(PABPN1):c.52G>T (p.Gly18Cys) http://identifiers.org/clinvar/287619 ^@ NM_133378.4(TTN):c.95349C>T (p.Thr31783=) http://identifiers.org/clinvar/287620 ^@ NM_004006.2(DMD):c.6696C>G (p.Asn2232Lys) http://identifiers.org/clinvar/287621 ^@ NM_000445.4(PLEC):c.8032C>T (p.Arg2678Trp) http://identifiers.org/clinvar/287622 ^@ NM_004543.4(NEB):c.2510A>G (p.Lys837Arg) http://identifiers.org/clinvar/287623 ^@ NM_001008216.1(GALE):c.659G>C (p.Arg220Pro) http://identifiers.org/clinvar/287624 ^@ NM_004006.2(DMD):c.10126delC (p.Leu3376Terfs) http://identifiers.org/clinvar/287626 ^@ NM_000425.4(L1CAM):c.2849G>A (p.Gly950Asp) http://identifiers.org/clinvar/287627 ^@ NM_001129840.1(CACNA1C):c.1752C>T (p.Phe584=) http://identifiers.org/clinvar/287628 ^@ NM_017780.3(CHD7):c.5300+8C>T http://identifiers.org/clinvar/287629 ^@ NM_000346.3(SOX9):c.531G>A (p.Arg177=) http://identifiers.org/clinvar/287630 ^@ NM_004994.2(MMP9):c.1896C>T (p.Leu632=) http://identifiers.org/clinvar/287631 ^@ NM_024408.3(NOTCH2):c.6921C>T (p.Phe2307=) http://identifiers.org/clinvar/287632 ^@ NM_006019.3(TCIRG1):c.285G>T (p.Leu95=) http://identifiers.org/clinvar/287633 ^@ NM_000168.5(GLI3):c.1357-3C>T http://identifiers.org/clinvar/287634 ^@ NM_003392.4(WNT5A):c.14T>C (p.Ile5Thr) http://identifiers.org/clinvar/287635 ^@ NM_000444.5(PHEX):c.1368G>C (p.Trp456Cys) http://identifiers.org/clinvar/287636 ^@ NM_198525.2(KIF7):c.2861C>T (p.Thr954Met) http://identifiers.org/clinvar/287637 ^@ NM_152380.2(TBX15):c.662G>A (p.Arg221His) http://identifiers.org/clinvar/287638 ^@ NM_013227.3(ACAN):c.186C>T (p.Thr62=) http://identifiers.org/clinvar/287639 ^@ NM_015311.2(OBSL1):c.1283-9G>A http://identifiers.org/clinvar/287640 ^@ NM_001039141.2(TRIOBP):c.634G>A (p.Gly212Ser) http://identifiers.org/clinvar/287641 ^@ NM_206933.2(USH2A):c.15520-1G>A http://identifiers.org/clinvar/287642 ^@ NM_147196.2(TMIE):c.206C>T (p.Ser69Phe) http://identifiers.org/clinvar/287643 ^@ NM_014208.3(DSPP):c.214A>G (p.Thr72Ala) http://identifiers.org/clinvar/287644 ^@ NM_173630.3(RTTN):c.3863C>T (p.Pro1288Leu) http://identifiers.org/clinvar/287645 ^@ NM_032119.3(ADGRV1):c.11253C>T (p.Tyr3751=) http://identifiers.org/clinvar/287646 ^@ NM_000833.4(GRIN2A):c.4176A>G (p.Pro1392=) http://identifiers.org/clinvar/287647 ^@ NM_170589.4(KNL1):c.684C>T (p.Ser228=) http://identifiers.org/clinvar/287648 ^@ NM_005270.4(GLI2):c.2126T>C (p.Leu709Pro) http://identifiers.org/clinvar/287649 ^@ NM_001281463.1(SMC1A):c.1180G>A (p.Glu394Lys) http://identifiers.org/clinvar/287650 ^@ NM_032119.3(ADGRV1):c.5379T>C (p.Thr1793=) http://identifiers.org/clinvar/287651 ^@ NM_000784.3(CYP27A1):c.276C>T (p.Tyr92=) http://identifiers.org/clinvar/287652 ^@ NM_017617.4(NOTCH1):c.6648G>A (p.Pro2216=) http://identifiers.org/clinvar/287653 ^@ NM_014639.3(TTC37):c.4507C>T (p.Arg1503Cys) http://identifiers.org/clinvar/287654 ^@ NM_152841.2(HPS4):c.1985A>G (p.Glu662Gly) http://identifiers.org/clinvar/287655 ^@ NM_152841.2(HPS4):c.1868G>A (p.Arg623His) http://identifiers.org/clinvar/287656 ^@ NM_013416.3(NCF4):c.254C>A (p.Thr85Asn) http://identifiers.org/clinvar/287657 ^@ NM_033071.3(SYNE1):c.20650-3dupT http://identifiers.org/clinvar/287658 ^@ NM_004369.3(COL6A3):c.1327A>G (p.Lys443Glu) http://identifiers.org/clinvar/287659 ^@ NM_000232.4(SGCB):c.509T>G (p.Phe170Cys) http://identifiers.org/clinvar/287660 ^@ NM_033071.3(SYNE1):c.21426G>A (p.Leu7142=) http://identifiers.org/clinvar/287661 ^@ NM_001267550.2(TTN):c.54190+1G>A http://identifiers.org/clinvar/287662 ^@ NM_001267550.2(TTN):c.94533C>A (p.Gly31511=) http://identifiers.org/clinvar/287663 ^@ NM_014191.3(SCN8A):c.2543T>G (p.Leu848Trp) http://identifiers.org/clinvar/287664 ^@ NM_001135659.2(NRXN1):c.3223A>G (p.Thr1075Ala) http://identifiers.org/clinvar/287665 ^@ NM_004006.2(DMD):c.4170C>G (p.Asp1390Glu) http://identifiers.org/clinvar/287666 ^@ NM_024685.3(BBS10):c.483A>G (p.Lys161=) http://identifiers.org/clinvar/287667 ^@ NM_006642.3(SDCCAG8):c.1159delG (p.Ala387Profs) http://identifiers.org/clinvar/287668 ^@ NM_153427.2(PITX2):c.30G>C (p.Ser10=) http://identifiers.org/clinvar/287669 ^@ NM_025074.6(FRAS1):c.7632C>T (p.Ser2544=) http://identifiers.org/clinvar/287670 ^@ NM_182896.2(ARL13B):c.831C>A (p.Asn277Lys) http://identifiers.org/clinvar/287671 ^@ NM_001123383.1(BCOR):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/287672 ^@ NM_201253.2(CRB1):c.1986A>G (p.Ser662=) http://identifiers.org/clinvar/287673 ^@ NM_002335.3(LRP5):c.3153C>T (p.His1051=) http://identifiers.org/clinvar/287674 ^@ NM_198525.2(KIF7):c.1444-9G>A http://identifiers.org/clinvar/287675 ^@ NM_004863.3(SPTLC2):c.851-5T>C http://identifiers.org/clinvar/287676 ^@ NM_001267550.2(TTN):c.15345T>A (p.Ile5115=) http://identifiers.org/clinvar/287677 ^@ NM_000426.3(LAMA2):c.7155+1G>A http://identifiers.org/clinvar/287678 ^@ NM_000426.3(LAMA2):c.595T>A (p.Cys199Ser) http://identifiers.org/clinvar/287679 ^@ NM_001267550.2(TTN):c.69045G>A (p.Ala23015=) http://identifiers.org/clinvar/287680 ^@ NM_003588.3(CUL4B):c.1359A>T (p.Leu453Phe) http://identifiers.org/clinvar/287681 ^@ NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys) http://identifiers.org/clinvar/287682 ^@ NM_001044.4(SLC6A3):c.1731C>T (p.Ala577=) http://identifiers.org/clinvar/287683 ^@ NM_022124.5(CDH23):c.9947C>T (p.Thr3316Ile) http://identifiers.org/clinvar/287684 ^@ NM_025132.3(WDR19):c.2361C>T (p.Phe787=) http://identifiers.org/clinvar/287685 ^@ NM_005529.6(HSPG2):c.945T>A (p.Asp315Glu) http://identifiers.org/clinvar/287686 ^@ NM_015311.2(OBSL1):c.4122C>T (p.Gly1374=) http://identifiers.org/clinvar/287687 ^@ NM_014845.5(FIG4):c.309A>C (p.Glu103Asp) http://identifiers.org/clinvar/287688 ^@ NM_003482.3(KMT2D):c.7764C>G (p.His2588Gln) http://identifiers.org/clinvar/287689 ^@ NM_003482.3(KMT2D):c.13898C>T (p.Ser4633Leu) http://identifiers.org/clinvar/287690 ^@ NM_014384.2(ACAD8):c.605T>A (p.Val202Glu) http://identifiers.org/clinvar/287691 ^@ NM_004560.3(ROR2):c.2727G>A (p.Val909=) http://identifiers.org/clinvar/287692 ^@ NM_014363.5(SACS):c.12028C>T (p.Gln4010Ter) http://identifiers.org/clinvar/287693 ^@ NM_004006.2(DMD):c.2052_2053delAG (p.Val685Asnfs) http://identifiers.org/clinvar/287694 ^@ NM_004715.4(CTDP1):c.1995G>A (p.Ala665=) http://identifiers.org/clinvar/287695 ^@ NM_001848.2(COL6A1):c.1002+1G>T http://identifiers.org/clinvar/287696 ^@ NM_001267550.2(TTN):c.99582G>A (p.Pro33194=) http://identifiers.org/clinvar/287697 ^@ NM_005055.4(RAPSN):c.206A>G (p.Gln69Arg) http://identifiers.org/clinvar/287698 ^@ NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) http://identifiers.org/clinvar/287699 ^@ NM_001077416.2(TMEM231):c.191C>T (p.Ser64Phe) http://identifiers.org/clinvar/287700 ^@ NM_006899.4(IDH3B):c.818A>G (p.Tyr273Cys) http://identifiers.org/clinvar/287701 ^@ NM_000391.3(TPP1):c.665A>G (p.Asn222Ser) http://identifiers.org/clinvar/287702 ^@ NM_006383.3(CIB2):c.473T>G (p.Leu158Trp) http://identifiers.org/clinvar/287703 ^@ NM_206933.2(USH2A):c.5111A>T (p.Asn1704Ile) http://identifiers.org/clinvar/287704 ^@ NM_000104.3(CYP1B1):c.46C>T (p.Leu16=) http://identifiers.org/clinvar/287705 ^@ NM_000273.2(GPR143):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/287706 ^@ NM_057174.2(PEX16):c.887+9C>A http://identifiers.org/clinvar/287707 ^@ NM_004817.3(TJP2):c.911G>A (p.Gly304Glu) http://identifiers.org/clinvar/287708 ^@ NM_003742.2(ABCB11):c.1271delA (p.Asn424Metfs) http://identifiers.org/clinvar/287709 ^@ NM_001127464.2(ZNF469):c.725_726delGCinsTT (p.Ser242Ile) http://identifiers.org/clinvar/287710 ^@ NM_201382.3(PLEC):c.8316C>T (p.Arg2772=) http://identifiers.org/clinvar/287711 ^@ NM_033071.3(SYNE1):c.20936G>A (p.Arg6979Gln) http://identifiers.org/clinvar/287712 ^@ NM_000070.2(CAPN3):c.1373delC (p.Pro458Leufs) http://identifiers.org/clinvar/287713 ^@ NM_001849.3(COL6A2):c.345G>A (p.Arg115=) http://identifiers.org/clinvar/287715 ^@ NM_004006.2(DMD):c.31+34G>T http://identifiers.org/clinvar/287716 ^@ NM_001849.3(COL6A2):c.942C>T (p.Ala314=) http://identifiers.org/clinvar/287717 ^@ NM_024301.4(FKRP):c.675delG (p.Thr226Profs) http://identifiers.org/clinvar/287718 ^@ NM_001849.3(COL6A2):c.3025G>A (p.Gly1009Ser) http://identifiers.org/clinvar/287719 ^@ NM_000070.2(CAPN3):c.802-10C>T http://identifiers.org/clinvar/287720 ^@ NM_004006.2(DMD):c.2521_2523delCAA (p.Gln841del) http://identifiers.org/clinvar/287721 ^@ NM_001848.2(COL6A1):c.1911C>T (p.Phe637=) http://identifiers.org/clinvar/287722 ^@ NM_000414.3(HSD17B4):c.1696_1702delCCAGTATinsAA (p.Pro566Lysfs) http://identifiers.org/clinvar/287723 ^@ NM_000138.4(FBN1):c.5594_5595insTG (p.Ile1866Alafs) http://identifiers.org/clinvar/287724 ^@ NC_000021.8:g.47545911_47545913delGAGinsATA http://identifiers.org/clinvar/287725 ^@ NM_002381.4(MATN3):c.132C>T (p.Pro44=) http://identifiers.org/clinvar/287726 ^@ NM_001277313.1(FMN1):c.2697T>C (p.Ala899=) http://identifiers.org/clinvar/287727 ^@ NM_001077488.3(GNAS):c.108C>T (p.Val36=) http://identifiers.org/clinvar/287728 ^@ NM_001040168.1(LFNG):c.774C>T (p.Gly258=) http://identifiers.org/clinvar/287729 ^@ NM_001200.3(BMP2):c.275C>T (p.Ser92Leu) http://identifiers.org/clinvar/287730 ^@ NM_001844.4(COL2A1):c.1771G>C (p.Gly591Arg) http://identifiers.org/clinvar/287731 ^@ NM_004608.3(TBX6):c.408C>T (p.Arg136=) http://identifiers.org/clinvar/287732 ^@ NM_001298.2(CNGA3):c.1831C>T (p.Leu611=) http://identifiers.org/clinvar/287734 ^@ NM_006726.4(LRBA):c.3407C>T (p.Pro1136Leu) http://identifiers.org/clinvar/287735 ^@ NM_001033855.2(DCLRE1C):c.1284A>C (p.Lys428Asn) http://identifiers.org/clinvar/287736 ^@ NM_020975.4(RET):c.1119G>A (p.Ala373=) http://identifiers.org/clinvar/287737 ^@ NM_000195.4(HPS1):c.1940+6G>A http://identifiers.org/clinvar/287738 ^@ NM_006726.4(LRBA):c.4930C>G (p.Leu1644Val) http://identifiers.org/clinvar/287739 ^@ NM_001006657.1(WDR35):c.2142T>G (p.Thr714=) http://identifiers.org/clinvar/287740 ^@ NM_001006657.1(WDR35):c.3285G>A (p.Glu1095=) http://identifiers.org/clinvar/287741 ^@ NM_013227.3(ACAN):c.6113C>T (p.Thr2038Ile) http://identifiers.org/clinvar/287742 ^@ NM_001277313.1(FMN1):c.2562C>G (p.Leu854=) http://identifiers.org/clinvar/287743 ^@ NM_002181.3(IHH):c.858G>A (p.Pro286=) http://identifiers.org/clinvar/287744 ^@ NM_001177317.1(SLC34A3):c.383T>A (p.Val128Asp) http://identifiers.org/clinvar/287745 ^@ NM_014112.4(TRPS1):c.933G>A (p.Arg311=) http://identifiers.org/clinvar/287746 ^@ NM_005379.3(MYO1A):c.707A>G (p.Asp236Gly) http://identifiers.org/clinvar/287747 ^@ NM_001163213.1(FGFR3):c.615+6C>T http://identifiers.org/clinvar/287748 ^@ NM_014053.3(FLVCR1):c.501G>A (p.Leu167=) http://identifiers.org/clinvar/287749 ^@ NM_000390.3(CHM):c.649_652delTACT (p.Tyr217Hisfs) http://identifiers.org/clinvar/287750 ^@ NM_183059.2(RD3):c.135G>A (p.Arg45=) http://identifiers.org/clinvar/287751 ^@ NM_001844.4(COL2A1):c.3786C>G (p.Leu1262=) http://identifiers.org/clinvar/287752 ^@ NM_181714.3(LCA5):c.1215T>G (p.Val405=) http://identifiers.org/clinvar/287753 ^@ NM_000327.3(ROM1):c.223G>A (p.Gly75Ser) http://identifiers.org/clinvar/287754 ^@ NM_004727.2(SLC24A1):c.1444G>T (p.Gly482Cys) http://identifiers.org/clinvar/287755 ^@ NM_015074.3(KIF1B):c.-5T>C http://identifiers.org/clinvar/287756 ^@ NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu) http://identifiers.org/clinvar/287757 ^@ NM_001267550.2(TTN):c.184C>T (p.Arg62Cys) http://identifiers.org/clinvar/287758 ^@ NM_004737.5(LARGE1):c.909T>G (p.Leu303=) http://identifiers.org/clinvar/287759 ^@ NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys) http://identifiers.org/clinvar/287760 ^@ NM_182914.2(SYNE2):c.18723+8C>T http://identifiers.org/clinvar/287761 ^@ NM_001267550.2(TTN):c.51459_51462delTGTA (p.Asp17153Glufs) http://identifiers.org/clinvar/287762 ^@ NM_005592.3(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr) http://identifiers.org/clinvar/287763 ^@ NM_000451.3(SHOX):c.577G>A (p.Ala193Thr) http://identifiers.org/clinvar/287764 ^@ NM_012448.3(STAT5B):c.1335A>G (p.Glu445=) http://identifiers.org/clinvar/287765 ^@ NM_000540.2(RYR1):c.13244_13264dup21 (p.Asp4421_Glu4422insAlaAlaGluGlyAlaGlyAsp) http://identifiers.org/clinvar/287766 ^@ NM_000843.3(GRM6):c.504+20G>C http://identifiers.org/clinvar/287767 ^@ NM_000033.3(ABCD1):c.1992-7T>A http://identifiers.org/clinvar/287768 ^@ NM_000168.5(GLI3):c.3083_3084delGCinsTT (p.Ser1028Ile) http://identifiers.org/clinvar/287769 ^@ NM_001029883.2(C2orf71):c.2374C>G (p.Leu792Val) http://identifiers.org/clinvar/287770 ^@ NM_001029883.2(C2orf71):c.2499G>A (p.Pro833=) http://identifiers.org/clinvar/287771 ^@ NM_000271.4(NPC1):c.2257G>A (p.Val753Met) http://identifiers.org/clinvar/287772 ^@ NM_000466.2(PEX1):c.3598A>T (p.Ile1200Phe) http://identifiers.org/clinvar/287773 ^@ NM_017929.5(PEX26):c.198C>T (p.Ala66=) http://identifiers.org/clinvar/287774 ^@ NM_002857.3(PEX19):c.16G>A (p.Glu6Lys) http://identifiers.org/clinvar/287775 ^@ NM_002693.2(POLG):c.2994G>C (p.Ser998=) http://identifiers.org/clinvar/287776 ^@ NM_018849.2(ABCB4):c.1817G>T (p.Gly606Val) http://identifiers.org/clinvar/287777 ^@ NM_000287.3(PEX6):c.2882C>T (p.Ser961Leu) http://identifiers.org/clinvar/287778 ^@ NM_018849.2(ABCB4):c.2626A>T (p.Lys876Ter) http://identifiers.org/clinvar/287779 ^@ NM_018849.2(ABCB4):c.1415T>C (p.Ile472Thr) http://identifiers.org/clinvar/287780 ^@ NM_005603.4(ATP8B1):c.1216G>A (p.Val406Ile) http://identifiers.org/clinvar/287781 ^@ NM_001360.2(DHCR7):c.855C>T (p.Phe285=) http://identifiers.org/clinvar/287782 ^@ NM_018849.2(ABCB4):c.2625G>A (p.Met875Ile) http://identifiers.org/clinvar/287783 ^@ NM_153638.3(PANK2):c.-11G>A http://identifiers.org/clinvar/287784 ^@ NM_139058.2(ARX):c.614_642del29 (p.Leu205Profs) http://identifiers.org/clinvar/287785 ^@ NM_001130987.1(DYSF):c.2611C>T (p.Arg871Trp) http://identifiers.org/clinvar/287786 ^@ NM_005572.3(LMNA):c.66G>T (p.Ser22=) http://identifiers.org/clinvar/287787 ^@ NM_033071.3(SYNE1):c.6370G>T (p.Asp2124Tyr) http://identifiers.org/clinvar/287788 ^@ NM_001849.3(COL6A2):c.1071G>A (p.Pro357=) http://identifiers.org/clinvar/287789 ^@ NM_001849.3(COL6A2):c.1054-13_1054-10delACTC http://identifiers.org/clinvar/287790 ^@ NM_033071.3(SYNE1):c.19153G>A (p.Asp6385Asn) http://identifiers.org/clinvar/287791 ^@ NM_001849.3(COL6A2):c.2392_2394delATC (p.Ile798del) http://identifiers.org/clinvar/287792 ^@ NM_001848.2(COL6A1):c.2611G>A (p.Val871Met) http://identifiers.org/clinvar/287793 ^@ NM_001848.2(COL6A1):c.1164G>A (p.Ser388=) http://identifiers.org/clinvar/287794 ^@ NM_004369.3(COL6A3):c.9444C>T (p.Asn3148=) http://identifiers.org/clinvar/287795 ^@ NM_001267550.2(TTN):c.17082G>T (p.Leu5694=) http://identifiers.org/clinvar/287796 ^@ NM_004006.2(DMD):c.7570C>T (p.Arg2524Cys) http://identifiers.org/clinvar/287797 ^@ NC_000009.11:g.138678382G>A http://identifiers.org/clinvar/287798 ^@ NM_000492.3(CFTR):c.2193T>C (p.Pro731=) http://identifiers.org/clinvar/287799 ^@ NM_018849.2(ABCB4):c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer) http://identifiers.org/clinvar/287800 ^@ NM_000155.3(GALT):c.452_454delTTG (p.Val151del) http://identifiers.org/clinvar/287801 ^@ NM_006996.2(SLC19A2):c.550G>A (p.Gly184Ser) http://identifiers.org/clinvar/287802 ^@ NM_001271208.1(NEB):c.19295A>G (p.Gln6432Arg) http://identifiers.org/clinvar/287803 ^@ NM_000203.4(IDUA):c.581C>G (p.Thr194Ser) http://identifiers.org/clinvar/287804 ^@ NM_001079802.1(FKTN):c.854C>T (p.Ala285Val) http://identifiers.org/clinvar/287805 ^@ NM_001271208.1(NEB):c.16875C>T (p.Val5625=) http://identifiers.org/clinvar/287806 ^@ NM_000098.2(CPT2):c.1559C>T (p.Pro520Leu) http://identifiers.org/clinvar/287807 ^@ NM_014639.3(TTC37):c.1124C>T (p.Thr375Met) http://identifiers.org/clinvar/287808 ^@ NM_000050.4(ASS1):c.421-8A>C http://identifiers.org/clinvar/287809 ^@ NM_000383.3(AIRE):c.564C>G (p.Val188=) http://identifiers.org/clinvar/287810 ^@ NM_052845.3(MMAB):c.444G>A (p.Gly148=) http://identifiers.org/clinvar/287811 ^@ NM_003494.3(DYSF):c.894C>T (p.Leu298=) http://identifiers.org/clinvar/287812 ^@ NM_001927.3(DES):c.1256C>T (p.Pro419Leu) http://identifiers.org/clinvar/287813 ^@ NM_003494.3(DYSF):c.4089C>T (p.Gly1363=) http://identifiers.org/clinvar/287814 ^@ NM_004369.3(COL6A3):c.2863C>T (p.Arg955Cys) http://identifiers.org/clinvar/287815 ^@ NM_004006.2(DMD):c.7914T>C (p.Asp2638=) http://identifiers.org/clinvar/287816 ^@ NM_001130987.1(DYSF):c.6116G>A (p.Arg2039Gln) http://identifiers.org/clinvar/287817 ^@ NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) http://identifiers.org/clinvar/287818 ^@ NM_001848.2(COL6A1):c.376G>A (p.Gly126Ser) http://identifiers.org/clinvar/287819 ^@ NM_001128227.2(GNE):c.422A>G (p.His141Arg) http://identifiers.org/clinvar/287820 ^@ NM_004006.2(DMD):c.7354A>G (p.Lys2452Glu) http://identifiers.org/clinvar/287821 ^@ NM_182961.3(SYNE1):c.21652A>G (p.Met7218Val) http://identifiers.org/clinvar/287822 ^@ NM_001130987.1(DYSF):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/287823 ^@ NM_003383.4(VLDLR):c.-21_-19dupGGC http://identifiers.org/clinvar/287824 ^@ NM_000303.2(PMM2):c.399A>G (p.Gly133=) http://identifiers.org/clinvar/287825 ^@ NM_032119.3(ADGRV1):c.13153A>G (p.Ile4385Val) http://identifiers.org/clinvar/287826 ^@ NM_170740.1(ALDH5A1):c.1428T>C (p.Asp476=) http://identifiers.org/clinvar/287827 ^@ NM_000525.3(KCNJ11):c.1093C>T (p.Arg365Cys) http://identifiers.org/clinvar/287828 ^@ NM_003159.2(CDKL5):c.1108_1109dupAA (p.Asn370Lysfs) http://identifiers.org/clinvar/287829 ^@ NM_002977.3(SCN9A):c.4282G>A (p.Val1428Ile) http://identifiers.org/clinvar/287830 ^@ NM_001128177.1(THRB):c.67C>T (p.Arg23Ter) http://identifiers.org/clinvar/287831 ^@ NM_005633.3(SOS1):c.3387C>T (p.Gly1129=) http://identifiers.org/clinvar/287832 ^@ NM_017890.4(VPS13B):c.3363A>G (p.Ile1121Met) http://identifiers.org/clinvar/287833 ^@ NM_004187.3(KDM5C):c.465C>T (p.Ser155=) http://identifiers.org/clinvar/287834 ^@ NM_003688.3(CASK):c.2302+9T>C http://identifiers.org/clinvar/287835 ^@ NM_005045.3(RELN):c.6089C>T (p.Ser2030Leu) http://identifiers.org/clinvar/287836 ^@ NM_000271.4(NPC1):c.3671T>G (p.Phe1224Cys) http://identifiers.org/clinvar/287837 ^@ NM_000271.4(NPC1):c.2872C>T (p.Arg958Ter) http://identifiers.org/clinvar/287838 ^@ NM_019066.4(MAGEL2):c.3261T>C (p.Tyr1087=) http://identifiers.org/clinvar/287839 ^@ NM_170707.3(LMNA):c.65_66delCGinsT (p.Ser22Phefs) http://identifiers.org/clinvar/287840 ^@ NM_080680.2(COL11A2):c.390G>C (p.Arg130=) http://identifiers.org/clinvar/287841 ^@ NM_005183.3(CACNA1F):c.4213G>A (p.Gly1405Ser) http://identifiers.org/clinvar/287842 ^@ NM_001127897.3(RPGRIP1L):c.1419A>C (p.Lys473Asn) http://identifiers.org/clinvar/287843 ^@ NM_080680.2(COL11A2):c.329G>A (p.Arg110Gln) http://identifiers.org/clinvar/287844 ^@ NM_000843.3(GRM6):c.588C>T (p.Pro196=) http://identifiers.org/clinvar/287845 ^@ NM_006005.3(WFS1):c.975C>T (p.Asn325=) http://identifiers.org/clinvar/287846 ^@ NM_001793.5(CDH3):c.2430C>T (p.Asn810=) http://identifiers.org/clinvar/287847 ^@ NM_000843.3(GRM6):c.1345C>T (p.Arg449Cys) http://identifiers.org/clinvar/287848 ^@ NM_014989.5(RIMS1):c.2894C>T (p.Pro965Leu) http://identifiers.org/clinvar/287849 ^@ NM_012186.2(FOXE3):c.16G>A (p.Asp6Asn) http://identifiers.org/clinvar/287850 ^@ NM_145200.3(CABP4):c.531C>A (p.Ile177=) http://identifiers.org/clinvar/287851 ^@ NM_001004334.3(GPR179):c.673C>T (p.Gln225Ter) http://identifiers.org/clinvar/287852 ^@ NM_001004334.3(GPR179):c.320A>G (p.Asn107Ser) http://identifiers.org/clinvar/287853 ^@ NM_025074.6(FRAS1):c.11264C>T (p.Pro3755Leu) http://identifiers.org/clinvar/287854 ^@ NM_003106.3(SOX2):c.320_335del16insTATTTATAAT (p.Asp107_Pro112delinsValPheIleIle) http://identifiers.org/clinvar/287855 ^@ NM_006949.3(STXBP2):c.1569G>A (p.Lys523=) http://identifiers.org/clinvar/287856 ^@ NM_000377.2(WAS):c.264C>T (p.Tyr88=) http://identifiers.org/clinvar/287857 ^@ NM_000061.2(BTK):c.894+7G>A http://identifiers.org/clinvar/287858 ^@ NM_006031.5(PCNT):c.1593G>A (p.Glu531=) http://identifiers.org/clinvar/287859 ^@ NM_153717.2(EVC):c.1247G>A (p.Arg416Gln) http://identifiers.org/clinvar/287860 ^@ NM_025114.3(CEP290):c.4510G>A (p.Glu1504Lys) http://identifiers.org/clinvar/287861 ^@ NM_000168.5(GLI3):c.1498-6C>A http://identifiers.org/clinvar/287862 ^@ NM_006031.5(PCNT):c.6625G>A (p.Ala2209Thr) http://identifiers.org/clinvar/287863 ^@ NM_000088.3(COL1A1):c.2588G>C (p.Gly863Ala) http://identifiers.org/clinvar/287864 ^@ NM_006031.5(PCNT):c.418C>T (p.Pro140Ser) http://identifiers.org/clinvar/287865 ^@ NM_005529.6(HSPG2):c.7086C>T (p.Cys2362=) http://identifiers.org/clinvar/287866 ^@ NM_005529.6(HSPG2):c.11046C>T (p.Ala3682=) http://identifiers.org/clinvar/287867 ^@ NM_014714.3(IFT140):c.1667A>G (p.His556Arg) http://identifiers.org/clinvar/287868 ^@ NM_017780.3(CHD7):c.2848delG (p.Ala950Leufs) http://identifiers.org/clinvar/287869 ^@ NM_001457.3(FLNB):c.1472T>C (p.Met491Thr) http://identifiers.org/clinvar/287870 ^@ NM_001457.3(FLNB):c.4040A>G (p.Asn1347Ser) http://identifiers.org/clinvar/287871 ^@ NM_002381.4(MATN3):c.187T>G (p.Ser63Ala) http://identifiers.org/clinvar/287872 ^@ NM_014140.3(SMARCAL1):c.2528+5G>C http://identifiers.org/clinvar/287873 ^@ NM_014780.4(CUL7):c.2885G>T (p.Arg962Leu) http://identifiers.org/clinvar/287874 ^@ NM_001103184.3(FMN1):c.993A>G (p.Lys331=) http://identifiers.org/clinvar/287875 ^@ NM_001203.2(BMPR1B):c.*9G>C http://identifiers.org/clinvar/287876 ^@ NM_003361.3(UMOD):c.744C>G (p.Cys248Trp) http://identifiers.org/clinvar/287877 ^@ NC_000007.13:g.103062014T>C http://identifiers.org/clinvar/287878 ^@ NM_000441.1(SLC26A4):c.1233C>T (p.Ala411=) http://identifiers.org/clinvar/287879 ^@ NM_015404.3(WHRN):c.1455G>A (p.Pro485=) http://identifiers.org/clinvar/287880 ^@ NM_000046.3(ARSB):c.1197C>T (p.Phe399=) http://identifiers.org/clinvar/287881 ^@ NM_000142.4(FGFR3):c.1497C>T (p.Ala499=) http://identifiers.org/clinvar/287882 ^@ NM_138691.2(TMC1):c.956C>G (p.Thr319Ser) http://identifiers.org/clinvar/287883 ^@ NM_004999.3(MYO6):c.3171G>C (p.Leu1057Phe) http://identifiers.org/clinvar/287884 ^@ NM_138691.2(TMC1):c.1114G>A (p.Val372Met) http://identifiers.org/clinvar/287885 ^@ NM_016239.3(MYO15A):c.4888C>T (p.Arg1630Cys) http://identifiers.org/clinvar/287886 ^@ NM_153676.3(USH1C):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/287887 ^@ NM_138691.2(TMC1):c.603T>G (p.Val201=) http://identifiers.org/clinvar/287888 ^@ NM_017433.4(MYO3A):c.3974G>A (p.Arg1325His) http://identifiers.org/clinvar/287889 ^@ NM_001614.3(ACTG1):c.803-6C>T http://identifiers.org/clinvar/287890 ^@ NM_000070.2(CAPN3):c.1801-1G>A http://identifiers.org/clinvar/287891 ^@ NM_001849.3(COL6A2):c.1562G>A (p.Arg521Gln) http://identifiers.org/clinvar/287892 ^@ NM_001267550.2(TTN):c.23898T>G (p.Ser7966Arg) http://identifiers.org/clinvar/287893 ^@ NM_001034850.2(RETREG1):c.1182T>C (p.Ala394=) http://identifiers.org/clinvar/287894 ^@ NM_021830.4(TWNK):c.861G>A (p.Thr287=) http://identifiers.org/clinvar/287895 ^@ NM_004984.2(KIF5A):c.927T>C (p.Tyr309=) http://identifiers.org/clinvar/287896 ^@ NM_001267550.2(TTN):c.33631G>C (p.Val11211Leu) http://identifiers.org/clinvar/287897 ^@ NM_182914.2(SYNE2):c.19636G>A (p.Gly6546Ser) http://identifiers.org/clinvar/287898 ^@ NM_001005360.2(DNM2):c.1676A>G (p.Lys559Arg) http://identifiers.org/clinvar/287899 ^@ NM_005522.4(HOXA1):c.684A>G (p.Gln228=) http://identifiers.org/clinvar/287900 ^@ NM_004369.3(COL6A3):c.9508G>A (p.Gly3170Arg) http://identifiers.org/clinvar/287901 ^@ NM_001271208.1(NEB):c.1735G>T (p.Ala579Ser) http://identifiers.org/clinvar/287902 ^@ NM_001267550.2(TTN):c.84858A>G (p.Gly28286=) http://identifiers.org/clinvar/287903 ^@ NM_201380.3(PLEC):c.6660G>A (p.Ala2220=) http://identifiers.org/clinvar/287904 ^@ NM_004369.3(COL6A3):c.2754C>T (p.Tyr918=) http://identifiers.org/clinvar/287905 ^@ NM_000232.4(SGCB):c.498C>T (p.Ile166=) http://identifiers.org/clinvar/287906 ^@ NM_002206.2(ITGA7):c.3287C>T (p.Thr1096Met) http://identifiers.org/clinvar/287908 ^@ NM_001271208.1(NEB):c.19363C>T (p.Pro6455Ser) http://identifiers.org/clinvar/287909 ^@ NM_000426.3(LAMA2):c.2916T>G (p.Phe972Leu) http://identifiers.org/clinvar/287910 ^@ NM_020984.3(CHAT):c.1868G>A (p.Arg623Lys) http://identifiers.org/clinvar/287911 ^@ NM_020631.4(PLEKHG5):c.2433C>T (p.Arg811=) http://identifiers.org/clinvar/287912 ^@ NM_000080.3(CHRNE):c.1168C>T (p.Arg390Trp) http://identifiers.org/clinvar/287913 ^@ NM_000426.3(LAMA2):c.5116C>T (p.Arg1706Ter) http://identifiers.org/clinvar/287915 ^@ NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) http://identifiers.org/clinvar/287916 ^@ NM_000080.3(CHRNE):c.1183T>G (p.Phe395Val) http://identifiers.org/clinvar/287917 ^@ NM_004006.2(DMD):c.6896A>C (p.Asn2299Thr) http://identifiers.org/clinvar/287918 ^@ NM_138735.4(NRXN1):c.65_79delGCGGCGGCGGCGGCG (p.Gly22_Gly26del) http://identifiers.org/clinvar/287919 ^@ NM_001127221.1(CACNA1A):c.2740_2742delCCCinsTCT (p.Pro914Ser) http://identifiers.org/clinvar/287920 ^@ NM_012144.3(DNAI1):c.375_378delTGAAinsG (p.Asp125del) http://identifiers.org/clinvar/287921 ^@ NM_000780.3(CYP7A1):c.427G>A (p.Glu143Lys) http://identifiers.org/clinvar/287922 ^@ NM_004817.3(TJP2):c.2851C>T (p.Arg951Cys) http://identifiers.org/clinvar/287923 ^@ NM_153240.4(NPHP3):c.515T>C (p.Phe172Ser) http://identifiers.org/clinvar/287924 ^@ NM_017777.3(MKS1):c.30C>G (p.Thr10=) http://identifiers.org/clinvar/287925 ^@ NM_001080522.2(CC2D2A):c.2007G>A (p.Ala669=) http://identifiers.org/clinvar/287926 ^@ NM_018849.2(ABCB4):c.240G>A (p.Glu80=) http://identifiers.org/clinvar/287927 ^@ NM_000784.3(CYP27A1):c.472C>T (p.Arg158Cys) http://identifiers.org/clinvar/287928 ^@ NM_000784.3(CYP27A1):c.536A>G (p.Asn179Ser) http://identifiers.org/clinvar/287929 ^@ NM_004817.3(TJP2):c.375C>T (p.Ala125=) http://identifiers.org/clinvar/287930 ^@ NM_003742.2(ABCB11):c.1670G>A (p.Gly557Asp) http://identifiers.org/clinvar/287931 ^@ NM_138694.3(PKHD1):c.8455C>T (p.Pro2819Ser) http://identifiers.org/clinvar/287932 ^@ NM_003701.3(TNFSF11):c.147C>T (p.Phe49=) http://identifiers.org/clinvar/287933 ^@ NM_201382.3(PLEC):c.1737+9C>T http://identifiers.org/clinvar/287934 ^@ NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) http://identifiers.org/clinvar/287935 ^@ NM_001849.3(COL6A2):c.2809C>T (p.Arg937Trp) http://identifiers.org/clinvar/287936 ^@ NM_201383.2(PLEC):c.8457T>A (p.Val2819=) http://identifiers.org/clinvar/287937 ^@ NM_000070.2(CAPN3):c.1686G>A (p.Glu562=) http://identifiers.org/clinvar/287938 ^@ NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) http://identifiers.org/clinvar/287939 ^@ NM_004006.2(DMD):c.2344A>C (p.Arg782=) http://identifiers.org/clinvar/287940 ^@ NM_170707.3(LMNA):c.1202G>A (p.Arg401His) http://identifiers.org/clinvar/287941 ^@ NM_001101426.3(ISPD):c.258-1G>C http://identifiers.org/clinvar/287942 ^@ NM_013382.5(POMT2):c.613G>A (p.Ala205Thr) http://identifiers.org/clinvar/287943 ^@ NM_001130987.1(DYSF):c.1255C>T (p.Arg419Trp) http://identifiers.org/clinvar/287944 ^@ NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) http://identifiers.org/clinvar/287945 ^@ NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) http://identifiers.org/clinvar/287946 ^@ NM_004369.3(COL6A3):c.7558A>T (p.Thr2520Ser) http://identifiers.org/clinvar/287947 ^@ NM_000023.3(SGCA):c.408C>T (p.Ala136=) http://identifiers.org/clinvar/287948 ^@ NM_004006.2(DMD):c.4309G>T (p.Ala1437Ser) http://identifiers.org/clinvar/287949 ^@ NM_001128227.2(GNE):c.717T>G (p.Asp239Glu) http://identifiers.org/clinvar/287950 ^@ NM_033071.3(SYNE1):c.24137G>A (p.Arg8046Gln) http://identifiers.org/clinvar/287951 ^@ NM_182961.3(SYNE1):c.1497C>T (p.His499=) http://identifiers.org/clinvar/287952 ^@ NM_015295.2(SMCHD1):c.6005A>C (p.Lys2002Thr) http://identifiers.org/clinvar/287953 ^@ NM_001849.3(COL6A2):c.735+7G>A http://identifiers.org/clinvar/287955 ^@ NM_001256850.1(TTN):c.67983T>A (p.Ala22661=) http://identifiers.org/clinvar/287956 ^@ NM_004006.2(DMD):c.3327T>C (p.Asn1109=) http://identifiers.org/clinvar/287957 ^@ NM_001039141.2(TRIOBP):c.6472+16G>C http://identifiers.org/clinvar/287958 ^@ NM_012186.2(FOXE3):c.225G>C (p.Ser75=) http://identifiers.org/clinvar/287959 ^@ NM_015506.2(MMACHC):c.165G>A (p.Thr55=) http://identifiers.org/clinvar/287960 ^@ NM_020451.2(SELENON):c.20G>A (p.Gly7Asp) http://identifiers.org/clinvar/287961 ^@ NM_006015.4(ARID1A):c.5542G>T (p.Gly1848Trp) http://identifiers.org/clinvar/287962 ^@ NM_101395.2(DYRK1A):c.1744C>A (p.Pro582Thr) http://identifiers.org/clinvar/287963 ^@ NM_002242.4(KCNJ13):c.558T>C (p.Asn186=) http://identifiers.org/clinvar/287964 ^@ NM_016464.4(TMEM138):c.247A>G (p.Ile83Val) http://identifiers.org/clinvar/287965 ^@ NM_005445.3(SMC3):c.255A>T (p.Ser85=) http://identifiers.org/clinvar/287966 ^@ NM_002653.4(PITX1):c.251C>A (p.Ala84Asp) http://identifiers.org/clinvar/287967 ^@ NM_006037.3(HDAC4):c.222G>A (p.Glu74=) http://identifiers.org/clinvar/287968 ^@ NM_002968.2(SALL1):c.3305A>G (p.Asp1102Gly) http://identifiers.org/clinvar/287969 ^@ NM_001077488.3(GNAS):c.315+7G>C http://identifiers.org/clinvar/287970 ^@ NM_001267550.2(TTN):c.32262A>G (p.Arg10754=) http://identifiers.org/clinvar/287971 ^@ NM_001848.2(COL6A1):c.1002+1G>A http://identifiers.org/clinvar/287972 ^@ NM_001267550.2(TTN):c.20814C>T (p.Asn6938=) http://identifiers.org/clinvar/287973 ^@ NM_001605.2(AARS):c.903C>T (p.His301=) http://identifiers.org/clinvar/287974 ^@ NM_001005360.2(DNM2):c.789G>A (p.Pro263=) http://identifiers.org/clinvar/287975 ^@ NM_014846.3(WASHC5):c.2575C>T (p.Arg859Cys) http://identifiers.org/clinvar/287976 ^@ NM_020247.4(COQ8A):c.818C>T (p.Ala273Val) http://identifiers.org/clinvar/287977 ^@ NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) http://identifiers.org/clinvar/287978 ^@ NM_002180.2(IGHMBP2):c.2598_2599delGA (p.Lys868Serfs) http://identifiers.org/clinvar/287979 ^@ NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) http://identifiers.org/clinvar/287980 ^@ NM_001080463.1(DYNC2H1):c.1484A>C (p.Lys495Thr) http://identifiers.org/clinvar/287981 ^@ NM_000088.3(COL1A1):c.740C>T (p.Pro247Leu) http://identifiers.org/clinvar/287982 ^@ NM_005529.6(HSPG2):c.11881G>A (p.Ala3961Thr) http://identifiers.org/clinvar/287983 ^@ NC_000015.9:g.89382103_89382159del56 http://identifiers.org/clinvar/287984 ^@ NM_000168.5(GLI3):c.3119A>T (p.Glu1040Val) http://identifiers.org/clinvar/287985 ^@ NM_005045.3(RELN):c.5961G>T (p.Lys1987Asn) http://identifiers.org/clinvar/287986 ^@ NM_005881.3(BCKDK):c.1115C>T (p.Thr372Met) http://identifiers.org/clinvar/287987 ^@ NM_002025.3(AFF2):c.3670G>A (p.Ala1224Thr) http://identifiers.org/clinvar/287988 ^@ NM_148898.3(FOXP2):c.2175A>T (p.Glu725Asp) http://identifiers.org/clinvar/287989 ^@ NM_030665.3(RAI1):c.3678G>A (p.Ser1226=) http://identifiers.org/clinvar/287990 ^@ NM_000155.3(GALT):c.507+5G>A http://identifiers.org/clinvar/287991 ^@ NM_000540.2(RYR1):c.3557-7C>A http://identifiers.org/clinvar/287992 ^@ NM_000152.4(GAA):c.2064C>T (p.Ser688=) http://identifiers.org/clinvar/287993 ^@ NM_001267550.2(TTN):c.93929G>T (p.Gly31310Val) http://identifiers.org/clinvar/287994 ^@ NM_014141.5(CNTNAP2):c.3796+4G>C http://identifiers.org/clinvar/287995 ^@ NM_019066.4(MAGEL2):c.3690G>C (p.Glu1230Asp) http://identifiers.org/clinvar/287996 ^@ NM_004006.2(DMD):c.4851T>G (p.Thr1617=) http://identifiers.org/clinvar/287997 ^@ NM_017890.4(VPS13B):c.3656C>G (p.Ser1219Cys) http://identifiers.org/clinvar/287998 ^@ NM_019066.4(MAGEL2):c.831G>A (p.Pro277=) http://identifiers.org/clinvar/287999 ^@ NM_001458.4(FLNC):c.4133C>T (p.Ala1378Val) http://identifiers.org/clinvar/288000 ^@ NM_005055.4(RAPSN):c.903G>A (p.Ala301=) http://identifiers.org/clinvar/288001 ^@ NM_000152.4(GAA):c.927G>A (p.Gly309=) http://identifiers.org/clinvar/288002 ^@ NM_022455.4(NSD1):c.3382dupT (p.Ser1128Phefs) http://identifiers.org/clinvar/288003 ^@ NM_007171.3(POMT1):c.1904G>A (p.Arg635His) http://identifiers.org/clinvar/288004 ^@ NM_004369.3(COL6A3):c.1558G>A (p.Gly520Ser) http://identifiers.org/clinvar/288005 ^@ NM_004006.2(DMD):c.10147A>C (p.Lys3383Gln) http://identifiers.org/clinvar/288006 ^@ NM_213599.2(ANO5):c.2030-3C>G http://identifiers.org/clinvar/288007 ^@ NM_003494.3(DYSF):c.5963C>T (p.Thr1988Ile) http://identifiers.org/clinvar/288008 ^@ NM_003494.3(DYSF):c.2348C>T (p.Ala783Val) http://identifiers.org/clinvar/288009 ^@ NM_182961.3(SYNE1):c.8133A>G (p.Lys2711=) http://identifiers.org/clinvar/288010 ^@ NM_015295.2(SMCHD1):c.5046A>G (p.Thr1682=) http://identifiers.org/clinvar/288011 ^@ NM_001848.2(COL6A1):c.2899A>G (p.Ile967Val) http://identifiers.org/clinvar/288012 ^@ NC_000016.9:g.30098034_30098036delTGA http://identifiers.org/clinvar/288013 ^@ NM_001189.3(NKX3-2):c.942G>C (p.Pro314=) http://identifiers.org/clinvar/288014 ^@ NM_015311.2(OBSL1):c.5300G>A (p.Arg1767Gln) http://identifiers.org/clinvar/288015 ^@ NM_000152.4(GAA):c.858+7_858+8insAGTGGGC http://identifiers.org/clinvar/288016 ^@ NM_001079802.1(FKTN):c.374G>T (p.Gly125Val) http://identifiers.org/clinvar/288017 ^@ NM_033071.3(SYNE1):c.11208+9G>A http://identifiers.org/clinvar/288018 ^@ NM_000263.3(NAGLU):c.422C>T (p.Ser141Phe) http://identifiers.org/clinvar/288019 ^@ NM_000263.3(NAGLU):c.1744G>C (p.Ala582Pro) http://identifiers.org/clinvar/288020 ^@ NM_023073.3(C5orf42):c.3341T>A (p.Val1114Glu) http://identifiers.org/clinvar/288021 ^@ NM_023073.3(C5orf42):c.1372-2A>G http://identifiers.org/clinvar/288022 ^@ NM_001193466.1(KANSL1):c.1563C>G (p.Asn521Lys) http://identifiers.org/clinvar/288023 ^@ NM_003588.3(CUL4B):c.652C>A (p.Gln218Lys) http://identifiers.org/clinvar/288024 ^@ NM_000466.2(PEX1):c.453G>A (p.Thr151=) http://identifiers.org/clinvar/288025 ^@ NM_015102.4(NPHP4):c.4143C>T (p.Val1381=) http://identifiers.org/clinvar/288026 ^@ NM_004817.3(TJP2):c.2239T>C (p.Leu747=) http://identifiers.org/clinvar/288027 ^@ NM_016492.4(RANGRF):c.132C>A (p.Asp44Glu) http://identifiers.org/clinvar/288028 ^@ NM_018136.4(ASPM):c.3189A>G (p.Leu1063=) http://identifiers.org/clinvar/288029 ^@ NM_001014797.2(KCNMA1):c.2513C>T (p.Thr838Met) http://identifiers.org/clinvar/288030 ^@ NM_005045.3(RELN):c.4260G>A (p.Gly1420=) http://identifiers.org/clinvar/288031 ^@ NM_001143979.1(NDE1):c.386+9G>A http://identifiers.org/clinvar/288032 ^@ NM_004519.3(KCNQ3):c.1543C>G (p.Leu515Val) http://identifiers.org/clinvar/288033 ^@ NM_002834.4(PTPN11):c.175A>G (p.Thr59Ala) http://identifiers.org/clinvar/288034 ^@ NM_000124.3(ERCC6):c.3581A>G (p.Glu1194Gly) http://identifiers.org/clinvar/288035 ^@ NM_001267550.2(TTN):c.50865A>T (p.Pro16955=) http://identifiers.org/clinvar/288036 ^@ NM_002471.3(MYH6):c.3327A>G (p.Lys1109=) http://identifiers.org/clinvar/288037 ^@ NM_000263.3(NAGLU):c.648dupC (p.Ser217Leufs) http://identifiers.org/clinvar/288038 ^@ NM_000428.2(LTBP2):c.3928G>A (p.Asp1310Asn) http://identifiers.org/clinvar/288039 ^@ NM_000528.3(MAN2B1):c.1068C>A (p.Pro356=) http://identifiers.org/clinvar/288040 ^@ NM_000263.3(NAGLU):c.694C>T (p.Gln232Ter) http://identifiers.org/clinvar/288041 ^@ NM_000428.2(LTBP2):c.1686+8C>G http://identifiers.org/clinvar/288042 ^@ NM_172337.2(OTX2):c.510C>A (p.Cys170Ter) http://identifiers.org/clinvar/288043 ^@ NG_012235.1:g.6940C>T http://identifiers.org/clinvar/288044 ^@ NM_001164277.1(SLC37A4):c.1240C>T (p.Leu414=) http://identifiers.org/clinvar/288045 ^@ NM_001277313.1(FMN1):c.2718G>A (p.Pro906=) http://identifiers.org/clinvar/288046 ^@ NM_001844.4(COL2A1):c.1023+1G>A http://identifiers.org/clinvar/288047 ^@ NM_004239.4(TRIP11):c.2584A>C (p.Asn862His) http://identifiers.org/clinvar/288048 ^@ NM_014714.3(IFT140):c.1542C>A (p.Leu514=) http://identifiers.org/clinvar/288049 ^@ NM_014714.3(IFT140):c.1541T>A (p.Leu514His) http://identifiers.org/clinvar/288050 ^@ NM_005529.6(HSPG2):c.9695G>A (p.Arg3232His) http://identifiers.org/clinvar/288051 ^@ NM_000089.3(COL1A2):c.2656G>A (p.Gly886Ser) http://identifiers.org/clinvar/288052 ^@ NM_000444.5(PHEX):c.1344C>T (p.Asp448=) http://identifiers.org/clinvar/288053 ^@ NM_001844.4(COL2A1):c.1071delT (p.Pro358Leufs) http://identifiers.org/clinvar/288054 ^@ NM_006294.4(UQCRB):c.200T>A (p.Leu67Gln) http://identifiers.org/clinvar/288055 ^@ NM_000784.3(CYP27A1):c.1085A>G (p.His362Arg) http://identifiers.org/clinvar/288056 ^@ NM_000287.3(PEX6):c.719C>G (p.Ala240Gly) http://identifiers.org/clinvar/288057 ^@ NM_139343.2(BIN1):c.924C>T (p.Pro308=) http://identifiers.org/clinvar/288058 ^@ NM_000751.2(CHRND):c.1530C>T (p.Asn510=) http://identifiers.org/clinvar/288059 ^@ NM_182961.3(SYNE1):c.18486C>T (p.Ala6162=) http://identifiers.org/clinvar/288060 ^@ NM_152296.4(ATP1A3):c.1296G>T (p.Val432=) http://identifiers.org/clinvar/288061 ^@ NM_080669.5(SLC46A1):c.756C>G (p.Val252=) http://identifiers.org/clinvar/288062 ^@ NM_022089.3(ATP13A2):c.2981G>A (p.Gly994Glu) http://identifiers.org/clinvar/288063 ^@ NM_025114.3(CEP290):c.6720A>G (p.Gln2240=) http://identifiers.org/clinvar/288064 ^@ NM_024649.4(BBS1):c.803G>A (p.Arg268His) http://identifiers.org/clinvar/288065 ^@ NM_015120.4(ALMS1):c.5659A>T (p.Thr1887Ser) http://identifiers.org/clinvar/288066 ^@ NM_001111283.2(IGF1):c.352G>A (p.Ala118Thr) http://identifiers.org/clinvar/288067 ^@ NM_015384.4(NIPBL):c.2439A>C (p.Ser813=) http://identifiers.org/clinvar/288068 ^@ NM_181332.2(NLGN4X):c.2226G>A (p.Glu742=) http://identifiers.org/clinvar/288069 ^@ NM_000520.5(HEXA):c.38C>T (p.Ala13Val) http://identifiers.org/clinvar/288070 ^@ NM_004006.2(DMD):c.5360dupA (p.Asn1787Lysfs) http://identifiers.org/clinvar/288071 ^@ NM_014714.3(IFT140):c.1541_1542delTCinsAA (p.Leu514Gln) http://identifiers.org/clinvar/288072 ^@ NM_000543.4(SMPD1):c.689G>A (p.Arg230His) http://identifiers.org/clinvar/288073 ^@ NM_000543.4(SMPD1):c.1106A>G (p.Tyr369Cys) http://identifiers.org/clinvar/288074 ^@ NM_033071.3(SYNE1):c.9440C>T (p.Ala3147Val) http://identifiers.org/clinvar/288075 ^@ NM_001256850.1(TTN):c.65061G>A (p.Ala21687=) http://identifiers.org/clinvar/288076 ^@ NM_033071.3(SYNE1):c.4218T>G (p.Leu1406=) http://identifiers.org/clinvar/288077 ^@ NM_182961.3(SYNE1):c.11088A>G (p.Gln3696=) http://identifiers.org/clinvar/288078 ^@ NM_001848.2(COL6A1):c.2610C>T (p.Asp870=) http://identifiers.org/clinvar/288079 ^@ NM_201383.2(PLEC):c.4226A>G (p.Glu1409Gly) http://identifiers.org/clinvar/288080 ^@ NM_182961.3(SYNE1):c.20613G>T (p.Lys6871Asn) http://identifiers.org/clinvar/288081 ^@ NM_001849.3(COL6A2):c.2634G>A (p.Ala878=) http://identifiers.org/clinvar/288082 ^@ NM_004369.3(COL6A3):c.3569C>A (p.Thr1190Asn) http://identifiers.org/clinvar/288083 ^@ NM_058246.3(DNAJB6):c.958_960delAAG (p.Lys320del) http://identifiers.org/clinvar/288084 ^@ NM_014244.4(ADAMTS2):c.1194C>T (p.Asp398=) http://identifiers.org/clinvar/288085 ^@ NM_014244.4(ADAMTS2):c.1238+18G>A http://identifiers.org/clinvar/288086 ^@ NM_017617.4(NOTCH1):c.1670-9A>G http://identifiers.org/clinvar/288087 ^@ NM_017617.4(NOTCH1):c.5639-12C>T http://identifiers.org/clinvar/288088 ^@ NM_004369.3(COL6A3):c.4431C>T (p.Val1477=) http://identifiers.org/clinvar/288089 ^@ NM_001130987.1(DYSF):c.4911G>A (p.Lys1637=) http://identifiers.org/clinvar/288090 ^@ NM_001130987.1(DYSF):c.6314C>T (p.Ala2105Val) http://identifiers.org/clinvar/288091 ^@ NM_182961.3(SYNE1):c.8267T>C (p.Ile2756Thr) http://identifiers.org/clinvar/288092 ^@ NM_022436.2(ABCG5):c.265+10G>A http://identifiers.org/clinvar/288093 ^@ NM_018668.4(VPS33B):c.1749C>T (p.Ala583=) http://identifiers.org/clinvar/288094 ^@ NM_000392.4(ABCC2):c.2613A>G (p.Glu871=) http://identifiers.org/clinvar/288095 ^@ NM_000271.4(NPC1):c.2275A>G (p.Thr759Ala) http://identifiers.org/clinvar/288096 ^@ NM_000295.4(SERPINA1):c.43C>T (p.Leu15=) http://identifiers.org/clinvar/288097 ^@ NM_138694.3(PKHD1):c.3526G>A (p.Val1176Ile) http://identifiers.org/clinvar/288098 ^@ NM_000463.2(UGT1A1):c.1099C>T (p.Arg367Cys) http://identifiers.org/clinvar/288099 ^@ NM_012254.2(SLC27A5):c.1535G>T (p.Arg512Leu) http://identifiers.org/clinvar/288100 ^@ NM_003742.2(ABCB11):c.1708G>A (p.Ala570Thr) http://identifiers.org/clinvar/288101 ^@ NM_004817.3(TJP2):c.908C>T (p.Pro303Leu) http://identifiers.org/clinvar/288102 ^@ NM_004817.3(TJP2):c.1473C>A (p.Ala491=) http://identifiers.org/clinvar/288103 ^@ NM_012254.2(SLC27A5):c.813G>T (p.Ala271=) http://identifiers.org/clinvar/288104 ^@ NM_015102.4(NPHP4):c.2569C>T (p.Arg857Cys) http://identifiers.org/clinvar/288105 ^@ NM_004817.3(TJP2):c.2963C>T (p.Pro988Leu) http://identifiers.org/clinvar/288106 ^@ NM_000271.4(NPC1):c.2246-5G>A http://identifiers.org/clinvar/288107 ^@ NM_004817.3(TJP2):c.258C>T (p.Val86=) http://identifiers.org/clinvar/288108 ^@ NM_001005360.2(DNM2):c.149A>G (p.Asn50Ser) http://identifiers.org/clinvar/288109 ^@ NM_019066.4(MAGEL2):c.1446T>C (p.Ala482=) http://identifiers.org/clinvar/288110 ^@ NM_004917.4(KLK4):c.632delT (p.Leu211Argfs) http://identifiers.org/clinvar/288111 ^@ NM_130445.3(COL18A1):c.2056delC (p.Arg686Glyfs) http://identifiers.org/clinvar/288112 ^@ NM_033337.2(CAV3):c.400G>A (p.Ala134Thr) http://identifiers.org/clinvar/288113 ^@ NM_001243766.1(POMGNT1):c.1454G>A (p.Arg485His) http://identifiers.org/clinvar/288114 ^@ NM_000232.4(SGCB):c.9A>G (p.Ala3=) http://identifiers.org/clinvar/288115 ^@ NM_001848.2(COL6A1):c.931-5C>T http://identifiers.org/clinvar/288116 ^@ NM_001130987.1(DYSF):c.1149+4A>G http://identifiers.org/clinvar/288117 ^@ NM_004369.3(COL6A3):c.972C>T (p.Leu324=) http://identifiers.org/clinvar/288118 ^@ NM_004369.3(COL6A3):c.5522T>C (p.Leu1841Pro) http://identifiers.org/clinvar/288119 ^@ NM_001267550.2(TTN):c.104399delG (p.Arg34800Lysfs) http://identifiers.org/clinvar/288120 ^@ NM_004369.3(COL6A3):c.4524C>G (p.Leu1508=) http://identifiers.org/clinvar/288121 ^@ NM_014140.3(SMARCAL1):c.2322G>A (p.Ser774=) http://identifiers.org/clinvar/288122 ^@ NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu) http://identifiers.org/clinvar/288123 ^@ NM_001039958.1(MESP2):c.549G>A (p.Gly183=) http://identifiers.org/clinvar/288124 ^@ NM_033071.3(SYNE1):c.18761T>C (p.Leu6254Pro) http://identifiers.org/clinvar/288125 ^@ NM_001848.2(COL6A1):c.2109G>A (p.Thr703=) http://identifiers.org/clinvar/288126 ^@ NM_007171.3(POMT1):c.1591C>G (p.Pro531Ala) http://identifiers.org/clinvar/288127 ^@ NM_170707.3(LMNA):c.1480G>T (p.Val494Leu) http://identifiers.org/clinvar/288128 ^@ NM_004369.3(COL6A3):c.7777A>T (p.Ile2593Phe) http://identifiers.org/clinvar/288129 ^@ NM_001128227.2(GNE):c.1768G>A (p.Gly590Arg) http://identifiers.org/clinvar/288130 ^@ NM_001130987.1(DYSF):c.1167C>G (p.Pro389=) http://identifiers.org/clinvar/288131 ^@ NM_033071.3(SYNE1):c.21831+9C>T http://identifiers.org/clinvar/288132 ^@ NM_022356.3(P3H1):c.1071C>T (p.Gly357=) http://identifiers.org/clinvar/288133 ^@ NM_147127.4(EVC2):c.126C>T (p.Leu42=) http://identifiers.org/clinvar/288134 ^@ NM_000168.5(GLI3):c.3903A>G (p.Pro1301=) http://identifiers.org/clinvar/288135 ^@ NM_001110556.1(FLNA):c.6175G>A (p.Glu2059Lys) http://identifiers.org/clinvar/288136 ^@ NM_006037.3(HDAC4):c.2331C>T (p.Cys777=) http://identifiers.org/clinvar/288137 ^@ NM_004560.3(ROR2):c.568A>G (p.Thr190Ala) http://identifiers.org/clinvar/288138 ^@ NM_000089.3(COL1A2):c.1611+9T>A http://identifiers.org/clinvar/288139 ^@ NM_001079515.2(TBCE):c.615A>C (p.Val205=) http://identifiers.org/clinvar/288140 ^@ NM_013227.3(ACAN):c.4264A>G (p.Thr1422Ala) http://identifiers.org/clinvar/288141 ^@ NM_052985.3(IFT122):c.822C>T (p.Tyr274=) http://identifiers.org/clinvar/288142 ^@ NM_080680.2(COL11A2):c.2797G>A (p.Ala933Thr) http://identifiers.org/clinvar/288143 ^@ NM_013372.6(GREM1):c.309C>T (p.Ile103=) http://identifiers.org/clinvar/288144 ^@ NM_147127.4(EVC2):c.707-4G>A http://identifiers.org/clinvar/288145 ^@ NM_001039141.2(TRIOBP):c.3084G>A (p.Ser1028=) http://identifiers.org/clinvar/288146 ^@ NM_001130823.2(DNMT1):c.3523+9C>T http://identifiers.org/clinvar/288147 ^@ NM_020436.4(SALL4):c.1567G>C (p.Gly523Arg) http://identifiers.org/clinvar/288148 ^@ NM_139125.3(MASP1):c.1520C>T (p.Thr507Met) http://identifiers.org/clinvar/288149 ^@ NM_021101.4(CLDN1):c.41C>T (p.Ala14Val) http://identifiers.org/clinvar/288150 ^@ NM_000271.4(NPC1):c.1011G>T (p.Arg337=) http://identifiers.org/clinvar/288151 ^@ NM_000492.3(CFTR):c.2490+5G>T http://identifiers.org/clinvar/288152 ^@ NM_138694.3(PKHD1):c.8440+10G>C http://identifiers.org/clinvar/288153 ^@ NM_000214.2(JAG1):c.3342C>T (p.Asn1114=) http://identifiers.org/clinvar/288154 ^@ NM_000458.3(HNF1B):c.884G>A (p.Arg295His) http://identifiers.org/clinvar/288155 ^@ NM_001844.4(COL2A1):c.1802T>C (p.Val601Ala) http://identifiers.org/clinvar/288156 ^@ NM_001015880.1(PAPSS2):c.1167C>T (p.Asp389=) http://identifiers.org/clinvar/288157 ^@ NM_001851.4(COL9A1):c.2590G>A (p.Gly864Ser) http://identifiers.org/clinvar/288158 ^@ NM_014028.3(OSTM1):c.238C>G (p.Leu80Val) http://identifiers.org/clinvar/288159 ^@ NM_020754.3(ARHGAP31):c.2323G>A (p.Gly775Ser) http://identifiers.org/clinvar/288160 ^@ NM_005989.3(AKR1D1):c.261+1G>T http://identifiers.org/clinvar/288161 ^@ NM_005957.4(MTHFR):c.89C>T (p.Ser30Leu) http://identifiers.org/clinvar/288162 ^@ NM_032119.3(ADGRV1):c.8671G>T (p.Gly2891Cys) http://identifiers.org/clinvar/288163 ^@ NM_004006.2(DMD):c.9224+15T>A http://identifiers.org/clinvar/288164 ^@ NM_004006.2(DMD):c.10572T>A (p.Tyr3524Ter) http://identifiers.org/clinvar/288165 ^@ NM_207122.1(EXT2):c.698A>G (p.Tyr233Cys) http://identifiers.org/clinvar/288166 ^@ NM_152281.2(GORAB):c.700C>T (p.Arg234Trp) http://identifiers.org/clinvar/288167 ^@ NM_020754.3(ARHGAP31):c.4121C>T (p.Ser1374Phe) http://identifiers.org/clinvar/288168 ^@ NM_005529.6(HSPG2):c.11760_11762delGTG (p.Cys3921del) http://identifiers.org/clinvar/288169 ^@ NM_005603.4(ATP8B1):c.1030-9G>A http://identifiers.org/clinvar/288170 ^@ NM_001079867.1(PEX2):c.237A>G (p.Ser79=) http://identifiers.org/clinvar/288171 ^@ NM_019887.5(DIABLO):c.670G>A (p.Gly224Arg) http://identifiers.org/clinvar/288172 ^@ NM_001039141.2(TRIOBP):c.1874G>C (p.Arg625Thr) http://identifiers.org/clinvar/288173 ^@ NM_015102.4(NPHP4):c.800A>T (p.His267Leu) http://identifiers.org/clinvar/288174 ^@ NM_153240.4(NPHP3):c.3662C>T (p.Ala1221Val) http://identifiers.org/clinvar/288175 ^@ NM_004977.2(KCNC3):c.1641G>A (p.Ser547=) http://identifiers.org/clinvar/288176 ^@ NM_014363.5(SACS):c.10461_10462delTCinsAA (p.Asn3487_Leu3488delinsLysIle) http://identifiers.org/clinvar/288177 ^@ NM_004006.2(DMD):c.186+2T>A http://identifiers.org/clinvar/288178 ^@ NM_201379.2(PLEC):c.6422C>G (p.Ala2141Gly) http://identifiers.org/clinvar/288179 ^@ NM_012210.3(TRIM32):c.330A>G (p.Gln110=) http://identifiers.org/clinvar/288180 ^@ NM_001101426.3(ISPD):c.123G>C (p.Gly41=) http://identifiers.org/clinvar/288181 ^@ NM_001449.4(FHL1):c.66G>A (p.Lys22=) http://identifiers.org/clinvar/288182 ^@ NM_001130987.1(DYSF):c.6271_6282dupATCCTCTTCATC (p.Ile2094_Leu2095insIleLeuPheIle) http://identifiers.org/clinvar/288183 ^@ NM_003494.3(DYSF):c.1020C>G (p.Ser340Arg) http://identifiers.org/clinvar/288184 ^@ NM_004977.2(KCNC3):c.1929C>T (p.Gly643=) http://identifiers.org/clinvar/288185 ^@ NM_033071.3(SYNE1):c.21493G>A (p.Ala7165Thr) http://identifiers.org/clinvar/288186 ^@ NM_213599.2(ANO5):c.2193A>C (p.Gln731His) http://identifiers.org/clinvar/288187 ^@ NM_007171.3(POMT1):c.2133C>T (p.His711=) http://identifiers.org/clinvar/288188 ^@ NM_012470.3(TNPO3):c.1851G>T (p.Val617=) http://identifiers.org/clinvar/288189 ^@ NM_001130987.1(DYSF):c.847C>T (p.Arg283Trp) http://identifiers.org/clinvar/288190 ^@ NM_033071.3(SYNE1):c.25485C>G (p.Gly8495=) http://identifiers.org/clinvar/288191 ^@ NM_058246.3(DNAJB6):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/288192 ^@ NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) http://identifiers.org/clinvar/288193 ^@ NM_001360.2(DHCR7):c.131T>C (p.Ile44Thr) http://identifiers.org/clinvar/288194 ^@ NM_024408.3(NOTCH2):c.6028-4G>A http://identifiers.org/clinvar/288195 ^@ NM_000543.4(SMPD1):c.1844A>G (p.Asp615Gly) http://identifiers.org/clinvar/288196 ^@ NM_001458.4(FLNC):c.6405G>A (p.Lys2135=) http://identifiers.org/clinvar/288197 ^@ NM_014270.4(SLC7A9):c.614dupA (p.Asn206Glufs) http://identifiers.org/clinvar/288198 ^@ NM_014444.4(TUBGCP4):c.1652G>A (p.Arg551Gln) http://identifiers.org/clinvar/288199 ^@ NM_014875.2(KIF14):c.346G>A (p.Glu116Lys) http://identifiers.org/clinvar/288200 ^@ NM_001160372.3(TRAPPC9):c.2622G>T (p.Arg874Ser) http://identifiers.org/clinvar/288201 ^@ NM_003737.3(DCHS1):c.1709A>G (p.Asp570Gly) http://identifiers.org/clinvar/288202 ^@ NM_001457.3(FLNB):c.6642C>T (p.Phe2214=) http://identifiers.org/clinvar/288203 ^@ NM_001844.4(COL2A1):c.2679G>C (p.Pro893=) http://identifiers.org/clinvar/288204 ^@ NM_001166253.1(TBXAS1):c.54G>A (p.Thr18=) http://identifiers.org/clinvar/288205 ^@ NM_016513.4(ICK):c.816A>T (p.Arg272=) http://identifiers.org/clinvar/288206 ^@ NM_022356.3(P3H1):c.2164C>A (p.Gln722Lys) http://identifiers.org/clinvar/288207 ^@ NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) http://identifiers.org/clinvar/288208 ^@ NM_001077488.3(GNAS):c.213-5A>G http://identifiers.org/clinvar/288209 ^@ NM_001457.3(FLNB):c.6684C>T (p.Ile2228=) http://identifiers.org/clinvar/288210 ^@ NM_213599.2(ANO5):c.1966G>C (p.Glu656Gln) http://identifiers.org/clinvar/288211 ^@ NM_006019.3(TCIRG1):c.2445C>T (p.Gly815=) http://identifiers.org/clinvar/288212 ^@ NM_004407.3(DMP1):c.55-3T>G http://identifiers.org/clinvar/288213 ^@ NM_020754.3(ARHGAP31):c.4218G>C (p.Arg1406Ser) http://identifiers.org/clinvar/288214 ^@ NM_002335.3(LRP5):c.2463C>T (p.Thr821=) http://identifiers.org/clinvar/288215 ^@ NM_000346.3(SOX9):c.1249C>T (p.Gln417Ter) http://identifiers.org/clinvar/288216 ^@ NM_002334.3(LRP4):c.1048+7G>T http://identifiers.org/clinvar/288217 ^@ NM_006031.5(PCNT):c.6876C>T (p.Ala2292=) http://identifiers.org/clinvar/288218 ^@ NM_001128225.2(SLC39A13):c.132G>A (p.Thr44=) http://identifiers.org/clinvar/288219 ^@ NM_024408.3(NOTCH2):c.4244C>T (p.Thr1415Met) http://identifiers.org/clinvar/288220 ^@ NM_002334.3(LRP4):c.5182A>G (p.Ile1728Val) http://identifiers.org/clinvar/288221 ^@ NM_001844.4(COL2A1):c.2638G>A (p.Val880Met) http://identifiers.org/clinvar/288222 ^@ NM_003995.3(NPR2):c.3087A>C (p.Gly1029=) http://identifiers.org/clinvar/288223 ^@ NM_001243246.1(P3H1):c.1221G>A (p.Gln407=) http://identifiers.org/clinvar/288224 ^@ NM_000316.2(PTH1R):c.1753C>G (p.Leu585Val) http://identifiers.org/clinvar/288225 ^@ NM_005529.6(HSPG2):c.9681C>T (p.His3227=) http://identifiers.org/clinvar/288226 ^@ NM_005529.6(HSPG2):c.6935G>A (p.Arg2312Gln) http://identifiers.org/clinvar/288227 ^@ NM_014918.4(CHSY1):c.1602A>T (p.Ile534=) http://identifiers.org/clinvar/288228 ^@ NM_152281.2(GORAB):c.995T>G (p.Leu332Ter) http://identifiers.org/clinvar/288229 ^@ NM_005529.6(HSPG2):c.4324A>G (p.Ile1442Val) http://identifiers.org/clinvar/288230 ^@ NM_198525.2(KIF7):c.72A>C (p.Pro24=) http://identifiers.org/clinvar/288231 ^@ NM_001015880.1(PAPSS2):c.31A>C (p.Asn11His) http://identifiers.org/clinvar/288232 ^@ NM_030984.3(TBXAS1):c.182G>T (p.Arg61Leu) http://identifiers.org/clinvar/288233 ^@ NM_002334.3(LRP4):c.5456A>T (p.Asp1819Val) http://identifiers.org/clinvar/288234 ^@ NM_005708.4(GPC6):c.320-6C>G http://identifiers.org/clinvar/288235 ^@ NM_001853.3(COL9A3):c.1881C>T (p.Pro627=) http://identifiers.org/clinvar/288236 ^@ NM_017837.3(PIGV):c.134G>A (p.Arg45His) http://identifiers.org/clinvar/288237 ^@ NM_006261.4(PROP1):c.52G>A (p.Gly18Ser) http://identifiers.org/clinvar/288238 ^@ NM_014363.5(SACS):c.6008A>T (p.Asp2003Val) http://identifiers.org/clinvar/288239 ^@ NM_172250.2(MMAA):c.334C>T (p.His112Tyr) http://identifiers.org/clinvar/288240 ^@ NM_139248.2(LIPH):c.1135C>T (p.Leu379Phe) http://identifiers.org/clinvar/288241 ^@ NM_000466.2(PEX1):c.1627G>A (p.Glu543Lys) http://identifiers.org/clinvar/288242 ^@ NM_000053.3(ATP7B):c.3786C>T (p.Val1262=) http://identifiers.org/clinvar/288243 ^@ NM_020533.2(MCOLN1):c.1053C>T (p.Val351=) http://identifiers.org/clinvar/288244 ^@ NM_015506.2(MMACHC):c.683C>T (p.Ala228Val) http://identifiers.org/clinvar/288245 ^@ NM_000203.4(IDUA):c.1271C>A (p.Ala424Asp) http://identifiers.org/clinvar/288246 ^@ NM_001164277.1(SLC37A4):c.839C>T (p.Ala280Val) http://identifiers.org/clinvar/288247 ^@ NM_000478.5(ALPL):c.818C>T (p.Thr273Met) http://identifiers.org/clinvar/288248 ^@ NM_000159.3(GCDH):c.356C>T (p.Ser119Leu) http://identifiers.org/clinvar/288249 ^@ NM_000030.2(AGXT):c.1111G>A (p.Glu371Lys) http://identifiers.org/clinvar/288250 ^@ NM_000133.3(F9):c.391+10T>G http://identifiers.org/clinvar/288251 ^@ NM_000372.4(TYR):c.504C>T (p.Asn168=) http://identifiers.org/clinvar/288252 ^@ NM_206828.3(NLRP7):c.1082C>T (p.Ser361Leu) http://identifiers.org/clinvar/288253 ^@ NM_000512.4(GALNS):c.775C>A (p.Arg259=) http://identifiers.org/clinvar/288254 ^@ NM_004937.2(CTNS):c.462-7C>A http://identifiers.org/clinvar/288255 ^@ NM_024685.3(BBS10):c.1510_1511delAT (p.Ile504Serfs) http://identifiers.org/clinvar/288256 ^@ NM_000466.2(PEX1):c.3031G>A (p.Val1011Met) http://identifiers.org/clinvar/288257 ^@ NM_023036.4(DNAI2):c.1697delA (p.Asp566Alafs) http://identifiers.org/clinvar/288258 ^@ NM_030665.3(RAI1):c.2001G>A (p.Leu667=) http://identifiers.org/clinvar/288259 ^@ NM_004463.2(FGD1):c.207C>T (p.Gly69=) http://identifiers.org/clinvar/288260 ^@ NM_003159.2(CDKL5):c.1338A>T (p.Ser446=) http://identifiers.org/clinvar/288261 ^@ NM_006726.4(LRBA):c.1802C>T (p.Thr601Ile) http://identifiers.org/clinvar/288262 ^@ NM_025074.6(FRAS1):c.9627C>T (p.Tyr3209=) http://identifiers.org/clinvar/288263 ^@ NM_207361.5(FREM2):c.6004C>T (p.Pro2002Ser) http://identifiers.org/clinvar/288264 ^@ NM_144966.5(FREM1):c.382C>G (p.Leu128Val) http://identifiers.org/clinvar/288265 ^@ NM_001035.2(RYR2):c.41T>C (p.Leu14Pro) http://identifiers.org/clinvar/288266 ^@ NM_001148.4(ANK2):c.7054_7059delGGTCAA (p.Gly2352_Gln2353del) http://identifiers.org/clinvar/288267 ^@ NM_015192.3(PLCB1):c.3635T>G (p.Phe1212Cys) http://identifiers.org/clinvar/288268 ^@ NM_020822.2(KCNT1):c.2008+10G>C http://identifiers.org/clinvar/288269 ^@ NM_001429.3(EP300):c.2242-8T>C http://identifiers.org/clinvar/288270 ^@ NM_006883.2(SHOX):c.437T>C (p.Met146Thr) http://identifiers.org/clinvar/288271 ^@ NM_000023.3(SGCA):c.-8G>A http://identifiers.org/clinvar/288272 ^@ NM_001130987.1(DYSF):c.2692G>A (p.Glu898Lys) http://identifiers.org/clinvar/288273 ^@ NM_004586.2(RPS6KA3):c.632A>G (p.Asp211Gly) http://identifiers.org/clinvar/288274 ^@ NM_000152.4(GAA):c.2712G>A (p.Val904=) http://identifiers.org/clinvar/288275 ^@ NM_000232.4(SGCB):c.369T>C (p.Tyr123=) http://identifiers.org/clinvar/288276 ^@ NM_170707.3(LMNA):c.1919A>G (p.Asn640Ser) http://identifiers.org/clinvar/288277 ^@ NM_213599.2(ANO5):c.921T>C (p.Leu307=) http://identifiers.org/clinvar/288278 ^@ NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys) http://identifiers.org/clinvar/288279 ^@ NM_012470.3(TNPO3):c.2141A>T (p.Glu714Val) http://identifiers.org/clinvar/288280 ^@ NM_000070.2(CAPN3):c.2331C>T (p.Ile777=) http://identifiers.org/clinvar/288282 ^@ NM_001848.2(COL6A1):c.379A>G (p.Thr127Ala) http://identifiers.org/clinvar/288283 ^@ NM_007171.3(POMT1):c.1266C>T (p.Ser422=) http://identifiers.org/clinvar/288284 ^@ NM_003494.3(DYSF):c.132T>C (p.Pro44=) http://identifiers.org/clinvar/288285 ^@ NM_001267550.2(TTN):c.21410C>G (p.Pro7137Arg) http://identifiers.org/clinvar/288286 ^@ NM_000232.4(SGCB):c.495C>T (p.Asp165=) http://identifiers.org/clinvar/288287 ^@ NM_033071.3(SYNE1):c.330+8C>A http://identifiers.org/clinvar/288288 ^@ NM_001267550.2(TTN):c.99920_99921insTC (p.Ala33308Profs) http://identifiers.org/clinvar/288289 ^@ NM_012470.3(TNPO3):c.704A>T (p.Asp235Val) http://identifiers.org/clinvar/288290 ^@ NM_058246.3(DNAJB6):c.923A>G (p.Lys308Arg) http://identifiers.org/clinvar/288291 ^@ NM_003494.3(DYSF):c.8G>A (p.Arg3Lys) http://identifiers.org/clinvar/288292 ^@ NM_003494.3(DYSF):c.2316G>A (p.Ala772=) http://identifiers.org/clinvar/288293 ^@ NM_012210.3(TRIM32):c.1659C>G (p.Gly553=) http://identifiers.org/clinvar/288294 ^@ NM_182961.3(SYNE1):c.12695G>A (p.Arg4232Lys) http://identifiers.org/clinvar/288295 ^@ NM_001848.2(COL6A1):c.674A>T (p.Glu225Val) http://identifiers.org/clinvar/288296 ^@ NM_033071.3(SYNE1):c.10320+8C>A http://identifiers.org/clinvar/288297 ^@ NM_000231.2(SGCG):c.599delG (p.Ser200Ilefs) http://identifiers.org/clinvar/288298 ^@ NM_001130987.1(DYSF):c.4830C>T (p.Ala1610=) http://identifiers.org/clinvar/288299 ^@ NM_182961.3(SYNE1):c.11609A>G (p.Glu3870Gly) http://identifiers.org/clinvar/288300 ^@ NM_001848.2(COL6A1):c.2468C>T (p.Thr823Met) http://identifiers.org/clinvar/288301 ^@ NM_001128227.2(GNE):c.410T>C (p.Ile137Thr) http://identifiers.org/clinvar/288302 ^@ NM_033071.3(SYNE1):c.14239T>A (p.Tyr4747Asn) http://identifiers.org/clinvar/288303 ^@ NM_001130987.1(DYSF):c.4295G>T (p.Arg1432Leu) http://identifiers.org/clinvar/288304 ^@ NM_182961.3(SYNE1):c.17347-4T>A http://identifiers.org/clinvar/288305 ^@ NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys) http://identifiers.org/clinvar/288306 ^@ NM_182961.3(SYNE1):c.11594C>T (p.Thr3865Met) http://identifiers.org/clinvar/288307 ^@ NM_000169.2(GLA):c.781G>A (p.Gly261Ser) http://identifiers.org/clinvar/288308 ^@ NM_000169.2(GLA):c.614C>T (p.Pro205Leu) http://identifiers.org/clinvar/288309 ^@ NM_004463.2(FGD1):c.-13C>T http://identifiers.org/clinvar/288310 ^@ NM_000436.3(OXCT1):c.809T>A (p.Ile270Lys) http://identifiers.org/clinvar/288311 ^@ NM_207391.2(RGS9BP):c.311C>T (p.Pro104Leu) http://identifiers.org/clinvar/288312 ^@ NM_012301.3(MAGI2):c.817C>G (p.Pro273Ala) http://identifiers.org/clinvar/288313 ^@ NM_003688.3(CASK):c.720G>T (p.Arg240Ser) http://identifiers.org/clinvar/288314 ^@ NM_006920.4(SCN1A):c.1377+1G>C http://identifiers.org/clinvar/288315 ^@ NM_001130438.2(SPTAN1):c.1528G>A (p.Glu510Lys) http://identifiers.org/clinvar/288316 ^@ NM_000086.2(CLN3):c.537C>G (p.Ala179=) http://identifiers.org/clinvar/288317 ^@ NM_003896.3(ST3GAL5):c.541C>T (p.His181Tyr) http://identifiers.org/clinvar/288318 ^@ NM_032119.3(ADGRV1):c.16248C>G (p.Val5416=) http://identifiers.org/clinvar/288319 ^@ NM_001184880.1(PCDH19):c.408_409insCTG (p.Leu136_Glu137insLeu) http://identifiers.org/clinvar/288320 ^@ NM_000082.3(ERCC8):c.250T>C (p.Cys84Arg) http://identifiers.org/clinvar/288321 ^@ NM_000093.4(COL5A1):c.5148G>A (p.Val1716=) http://identifiers.org/clinvar/288322 ^@ NM_000093.4(COL5A1):c.3344C>T (p.Pro1115Leu) http://identifiers.org/clinvar/288323 ^@ NM_001006657.1(WDR35):c.1203C>T (p.Asn401=) http://identifiers.org/clinvar/288324 ^@ NM_021939.3(FKBP10):c.1399+2T>G http://identifiers.org/clinvar/288325 ^@ NM_000350.2(ABCA4):c.1343T>A (p.Met448Lys) http://identifiers.org/clinvar/288326 ^@ NM_022137.5(SMOC1):c.1208G>A (p.Arg403His) http://identifiers.org/clinvar/288327 ^@ NM_001033855.2(DCLRE1C):c.526A>G (p.Ile176Val) http://identifiers.org/clinvar/288328 ^@ NM_014639.3(TTC37):c.1446T>C (p.Phe482=) http://identifiers.org/clinvar/288329 ^@ NM_022039.3(FBXW4):c.34G>A (p.Glu12Lys) http://identifiers.org/clinvar/288330 ^@ NM_001080463.1(DYNC2H1):c.10734C>T (p.Phe3578=) http://identifiers.org/clinvar/288331 ^@ NM_006031.5(PCNT):c.9840-4G>A http://identifiers.org/clinvar/288332 ^@ NM_013227.3(ACAN):c.1246G>A (p.Glu416Lys) http://identifiers.org/clinvar/288333 ^@ NM_014780.4(CUL7):c.3861C>T (p.Ala1287=) http://identifiers.org/clinvar/288334 ^@ NM_001015880.1(PAPSS2):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/288335 ^@ NM_052985.3(IFT122):c.1426C>T (p.Arg476Trp) http://identifiers.org/clinvar/288336 ^@ NM_198525.2(KIF7):c.2917C>G (p.Arg973Gly) http://identifiers.org/clinvar/288337 ^@ NM_002335.3(LRP5):c.4380C>T (p.Ser1460=) http://identifiers.org/clinvar/288338 ^@ NM_015629.3(PRPF31):c.182C>G (p.Ala61Gly) http://identifiers.org/clinvar/288339 ^@ NM_006269.1(RP1):c.2494G>T (p.Asp832Tyr) http://identifiers.org/clinvar/288340 ^@ NM_080680.2(COL11A2):c.2536C>T (p.Arg846Trp) http://identifiers.org/clinvar/288341 ^@ NM_000350.2(ABCA4):c.2023G>A (p.Val675Ile) http://identifiers.org/clinvar/288342 ^@ NM_001298.2(CNGA3):c.284C>T (p.Pro95Leu) http://identifiers.org/clinvar/288343 ^@ NM_000137.2(FAH):c.302A>G (p.Glu101Gly) http://identifiers.org/clinvar/288344 ^@ NM_001080522.2(CC2D2A):c.274A>G (p.Arg92Gly) http://identifiers.org/clinvar/288345 ^@ NM_001193315.1(VIPAS39):c.1164C>T (p.Ala388=) http://identifiers.org/clinvar/288346 ^@ NM_001206977.1(NR1H4):c.438G>A (p.Gly146=) http://identifiers.org/clinvar/288347 ^@ NM_000214.2(JAG1):c.2706C>A (p.Cys902Ter) http://identifiers.org/clinvar/288348 ^@ NM_000543.4(SMPD1):c.72C>A (p.Thr24=) http://identifiers.org/clinvar/288349 ^@ NM_003742.2(ABCB11):c.3848C>T (p.Ala1283Val) http://identifiers.org/clinvar/288350 ^@ NM_000214.2(JAG1):c.2781C>T (p.Val927=) http://identifiers.org/clinvar/288351 ^@ NM_000271.4(NPC1):c.1065delC (p.Phe356Serfs) http://identifiers.org/clinvar/288352 ^@ NM_012254.2(SLC27A5):c.263C>T (p.Pro88Leu) http://identifiers.org/clinvar/288353 ^@ NM_024408.3(NOTCH2):c.4999G>T (p.Val1667Phe) http://identifiers.org/clinvar/288354 ^@ NM_022437.2(ABCG8):c.1225A>G (p.Asn409Asp) http://identifiers.org/clinvar/288355 ^@ NM_000466.2(PEX1):c.293C>T (p.Ser98Phe) http://identifiers.org/clinvar/288356 ^@ NM_033012.3(TNFSF11):c.214+5G>A http://identifiers.org/clinvar/288357 ^@ NM_014780.4(CUL7):c.2787delC (p.Ser930Alafs) http://identifiers.org/clinvar/288358 ^@ NM_004625.3(WNT7A):c.399C>T (p.Cys133=) http://identifiers.org/clinvar/288359 ^@ NM_014780.4(CUL7):c.4318C>T (p.Arg1440Ter) http://identifiers.org/clinvar/288360 ^@ NM_022436.2(ABCG5):c.98C>G (p.Pro33Arg) http://identifiers.org/clinvar/288361 ^@ NM_004817.3(TJP2):c.568G>A (p.Asp190Asn) http://identifiers.org/clinvar/288362 ^@ NM_003742.2(ABCB11):c.1573A>G (p.Met525Val) http://identifiers.org/clinvar/288363 ^@ NM_004817.3(TJP2):c.655C>T (p.Arg219Trp) http://identifiers.org/clinvar/288364 ^@ NM_004565.2(PEX14):c.299-8G>A http://identifiers.org/clinvar/288365 ^@ NM_004817.3(TJP2):c.577C>A (p.Arg193=) http://identifiers.org/clinvar/288366 ^@ NM_003742.2(ABCB11):c.150+1G>A http://identifiers.org/clinvar/288367 ^@ NM_005603.4(ATP8B1):c.3605T>C (p.Val1202Ala) http://identifiers.org/clinvar/288368 ^@ NM_000287.3(PEX6):c.612A>G (p.Ser204=) http://identifiers.org/clinvar/288369 ^@ NM_000272.3(NPHP1):c.971T>C (p.Met324Thr) http://identifiers.org/clinvar/288370 ^@ NM_004817.3(TJP2):c.1561G>A (p.Val521Met) http://identifiers.org/clinvar/288371 ^@ NM_002857.3(PEX19):c.255G>A (p.Ala85=) http://identifiers.org/clinvar/288372 ^@ NM_012210.3(TRIM32):c.404C>T (p.Thr135Ile) http://identifiers.org/clinvar/288373 ^@ NM_001035.2(RYR2):c.8377C>A (p.Arg2793=) http://identifiers.org/clinvar/288374 ^@ NM_001271208.1(NEB):c.22534G>A (p.Gly7512Ser) http://identifiers.org/clinvar/288375 ^@ NM_139343.2(BIN1):c.1577A>G (p.Gln526Arg) http://identifiers.org/clinvar/288376 ^@ NM_201382.3(PLEC):c.11161C>T (p.Arg3721Cys) http://identifiers.org/clinvar/288377 ^@ NM_000487.5(ARSA):c.918G>A (p.Thr306=) http://identifiers.org/clinvar/288378 ^@ NM_153638.3(PANK2):c.1110A>G (p.Glu370=) http://identifiers.org/clinvar/288379 ^@ NM_004369.3(COL6A3):c.4984G>T (p.Val1662Leu) http://identifiers.org/clinvar/288380 ^@ NM_172107.3(KCNQ2):c.2052C>T (p.Gly684=) http://identifiers.org/clinvar/288381 ^@ NM_053025.3(MYLK):c.3380_3382delCCAinsGCC (p.Ala1127_Thr1128delinsGlyPro) http://identifiers.org/clinvar/288382 ^@ NM_139058.2(ARX):c.447G>C (p.Ala149=) http://identifiers.org/clinvar/288383 ^@ NM_001101426.3(ISPD):c.948A>G (p.Thr316=) http://identifiers.org/clinvar/288384 ^@ NM_182961.3(SYNE1):c.10800G>A (p.Leu3600=) http://identifiers.org/clinvar/288385 ^@ NM_004369.3(COL6A3):c.8359G>A (p.Ala2787Thr) http://identifiers.org/clinvar/288386 ^@ NM_033071.3(SYNE1):c.7632G>T (p.Arg2544Ser) http://identifiers.org/clinvar/288387 ^@ NM_004369.3(COL6A3):c.7114G>A (p.Asp2372Asn) http://identifiers.org/clinvar/288388 ^@ NM_001848.2(COL6A1):c.1817G>T (p.Cys606Phe) http://identifiers.org/clinvar/288389 ^@ NM_012210.3(TRIM32):c.1848T>C (p.Leu616=) http://identifiers.org/clinvar/288390 ^@ NM_004369.3(COL6A3):c.5019C>T (p.Gly1673=) http://identifiers.org/clinvar/288391 ^@ NM_182961.3(SYNE1):c.4732C>T (p.Pro1578Ser) http://identifiers.org/clinvar/288392 ^@ NM_001849.3(COL6A2):c.2875G>C (p.Glu959Gln) http://identifiers.org/clinvar/288393 ^@ NM_000070.2(CAPN3):c.1017G>A (p.Thr339=) http://identifiers.org/clinvar/288394 ^@ NM_000152.4(GAA):c.2383G>A (p.Glu795Lys) http://identifiers.org/clinvar/288395 ^@ NM_033071.3(SYNE1):c.22570A>G (p.Ile7524Val) http://identifiers.org/clinvar/288396 ^@ NM_004006.2(DMD):c.5368A>G (p.Ile1790Val) http://identifiers.org/clinvar/288397 ^@ NM_001130987.1(DYSF):c.6333delC (p.Met2112Terfs) http://identifiers.org/clinvar/288398 ^@ NM_004369.3(COL6A3):c.3901C>T (p.Arg1301Trp) http://identifiers.org/clinvar/288399 ^@ NM_004006.2(DMD):c.1014A>G (p.Glu338=) http://identifiers.org/clinvar/288400 ^@ NM_182961.3(SYNE1):c.19849G>A (p.Val6617Met) http://identifiers.org/clinvar/288401 ^@ NM_004369.3(COL6A3):c.1208C>T (p.Pro403Leu) http://identifiers.org/clinvar/288402 ^@ NM_000152.4(GAA):c.692+9T>C http://identifiers.org/clinvar/288403 ^@ NM_006790.2(MYOT):c.1401T>C (p.Asn467=) http://identifiers.org/clinvar/288404 ^@ NM_000070.2(CAPN3):c.649G>A (p.Glu217Lys) http://identifiers.org/clinvar/288405 ^@ NM_001159702.2(FHL1):c.889-9delT http://identifiers.org/clinvar/288406 ^@ NM_058246.3(DNAJB6):c.832G>C (p.Glu278Gln) http://identifiers.org/clinvar/288407 ^@ NM_004369.3(COL6A3):c.5607C>T (p.Ile1869=) http://identifiers.org/clinvar/288408 ^@ NM_000337.5(SGCD):c.270C>T (p.Tyr90=) http://identifiers.org/clinvar/288409 ^@ NM_182961.3(SYNE1):c.25696C>A (p.Leu8566Met) http://identifiers.org/clinvar/288410 ^@ NM_004369.3(COL6A3):c.3841A>G (p.Lys1281Glu) http://identifiers.org/clinvar/288411 ^@ NM_003494.3(DYSF):c.1053T>G (p.Pro351=) http://identifiers.org/clinvar/288412 ^@ NM_003494.3(DYSF):c.5983A>C (p.Ser1995Arg) http://identifiers.org/clinvar/288413 ^@ NM_001849.3(COL6A2):c.115+10G>T http://identifiers.org/clinvar/288414 ^@ NM_001849.3(COL6A2):c.2749G>A (p.Val917Met) http://identifiers.org/clinvar/288415 ^@ NM_013382.5(POMT2):c.1116+4A>G http://identifiers.org/clinvar/288416 ^@ NM_033071.3(SYNE1):c.8329T>A (p.Phe2777Ile) http://identifiers.org/clinvar/288417 ^@ NM_004369.3(COL6A3):c.2030G>T (p.Arg677Leu) http://identifiers.org/clinvar/288418 ^@ NM_000070.2(CAPN3):c.1148A>G (p.Glu383Gly) http://identifiers.org/clinvar/288419 ^@ NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg) http://identifiers.org/clinvar/288420 ^@ NM_001130987.1(DYSF):c.3285G>C (p.Trp1095Cys) http://identifiers.org/clinvar/288421 ^@ NM_033071.3(SYNE1):c.1343C>T (p.Thr448Met) http://identifiers.org/clinvar/288422 ^@ NM_001849.3(COL6A2):c.643G>A (p.Asp215Asn) http://identifiers.org/clinvar/288423 ^@ NM_004369.3(COL6A3):c.7728C>T (p.Asp2576=) http://identifiers.org/clinvar/288424 ^@ NM_001267550.2(TTN):c.30683-2A>T http://identifiers.org/clinvar/288425 ^@ NM_182961.3(SYNE1):c.12585G>A (p.Lys4195=) http://identifiers.org/clinvar/288426 ^@ NM_000070.2(CAPN3):c.1355-1G>C http://identifiers.org/clinvar/288427 ^@ NM_007171.3(POMT1):c.*226T>C http://identifiers.org/clinvar/288428 ^@ NM_000231.2(SGCG):c.*254G>A http://identifiers.org/clinvar/288429 ^@ NM_033071.3(SYNE1):c.16024-3delT http://identifiers.org/clinvar/288430 ^@ NM_213599.2(ANO5):c.879-7_879-6delTT http://identifiers.org/clinvar/288431 ^@ NM_000152.4(GAA):c.913G>A (p.Gly305Arg) http://identifiers.org/clinvar/288432 ^@ NM_001128227.2(GNE):c.1602C>G (p.Pro534=) http://identifiers.org/clinvar/288433 ^@ NM_015295.2(SMCHD1):c.5804C>G (p.Thr1935Ser) http://identifiers.org/clinvar/288434 ^@ NM_003494.3(DYSF):c.4317C>T (p.Ser1439=) http://identifiers.org/clinvar/288435 ^@ NM_012210.3(TRIM32):c.1387G>C (p.Ala463Pro) http://identifiers.org/clinvar/288436 ^@ NM_001130987.1(DYSF):c.2420G>C (p.Ser807Thr) http://identifiers.org/clinvar/288437 ^@ NM_015295.2(SMCHD1):c.437C>T (p.Ala146Val) http://identifiers.org/clinvar/288438 ^@ NM_003494.3(DYSF):c.1861G>A (p.Gly621Arg) http://identifiers.org/clinvar/288439 ^@ NM_004006.2(DMD):c.31+143_31+144insAT http://identifiers.org/clinvar/288440 ^@ NM_007171.3(POMT1):c.1549G>A (p.Ala517Thr) http://identifiers.org/clinvar/288441 ^@ NM_004369.3(COL6A3):c.2147G>A (p.Gly716Asp) http://identifiers.org/clinvar/288442 ^@ NM_001130987.1(DYSF):c.2344G>T (p.Glu782Ter) http://identifiers.org/clinvar/288443 ^@ NM_004369.3(COL6A3):c.4032G>A (p.Ser1344=) http://identifiers.org/clinvar/288444 ^@ NM_000337.5(SGCD):c.481G>A (p.Ala161Thr) http://identifiers.org/clinvar/288445 ^@ NM_004369.3(COL6A3):c.6677C>T (p.Thr2226Ile) http://identifiers.org/clinvar/288446 ^@ NM_004006.2(DMD):c.2291A>G (p.Asn764Ser) http://identifiers.org/clinvar/288447 ^@ NM_058246.3(DNAJB6):c.948G>A (p.Ser316=) http://identifiers.org/clinvar/288448 ^@ NM_001849.3(COL6A2):c.2171G>T (p.Arg724Leu) http://identifiers.org/clinvar/288449 ^@ NM_018849.2(ABCB4):c.2165G>C (p.Gly722Ala) http://identifiers.org/clinvar/288450 ^@ NM_000780.3(CYP7A1):c.1192C>G (p.Pro398Ala) http://identifiers.org/clinvar/288451 ^@ NM_018849.2(ABCB4):c.2211+5G>A http://identifiers.org/clinvar/288452 ^@ NM_001206977.1(NR1H4):c.732+6A>G http://identifiers.org/clinvar/288453 ^@ NM_000458.3(HNF1B):c.479T>G (p.Met160Arg) http://identifiers.org/clinvar/288454 ^@ NM_000458.3(HNF1B):c.721G>A (p.Ala241Thr) http://identifiers.org/clinvar/288455 ^@ NM_000214.2(JAG1):c.2310C>A (p.Cys770Ter) http://identifiers.org/clinvar/288456 ^@ NM_001127701.1(SERPINA1):c.922G>T (p.Ala308Ser) http://identifiers.org/clinvar/288457 ^@ NM_000466.2(PEX1):c.1360-4G>T http://identifiers.org/clinvar/288458 ^@ NM_000492.3(CFTR):c.2659A>C (p.Thr887Pro) http://identifiers.org/clinvar/288459 ^@ NM_002693.2(POLG):c.360G>T (p.Leu120Phe) http://identifiers.org/clinvar/288460 ^@ NM_004817.3(TJP2):c.1953G>T (p.Gly651=) http://identifiers.org/clinvar/288461 ^@ NM_017929.5(PEX26):c.200A>G (p.Asn67Ser) http://identifiers.org/clinvar/288462 ^@ NM_005603.4(ATP8B1):c.2681G>C (p.Gly894Ala) http://identifiers.org/clinvar/288463 ^@ NM_001701.3(BAAT):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/288464 ^@ NM_022437.2(ABCG8):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/288465 ^@ NM_024408.3(NOTCH2):c.4122C>T (p.Cys1374=) http://identifiers.org/clinvar/288466 ^@ NM_005603.4(ATP8B1):c.632A>C (p.Asp211Ala) http://identifiers.org/clinvar/288467 ^@ NM_022437.2(ABCG8):c.1924G>A (p.Ala642Thr) http://identifiers.org/clinvar/288468 ^@ NM_000287.3(PEX6):c.684dupC (p.Arg229Glnfs) http://identifiers.org/clinvar/288469 ^@ NM_000271.4(NPC1):c.372A>T (p.Thr124=) http://identifiers.org/clinvar/288470 ^@ NM_024408.3(NOTCH2):c.4312G>A (p.Val1438Ile) http://identifiers.org/clinvar/288471 ^@ NM_138694.3(PKHD1):c.4009G>A (p.Asp1337Asn) http://identifiers.org/clinvar/288472 ^@ NM_003742.2(ABCB11):c.3766-10C>T http://identifiers.org/clinvar/288473 ^@ NM_000784.3(CYP27A1):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/288474 ^@ NM_138694.3(PKHD1):c.7641A>G (p.Ser2547=) http://identifiers.org/clinvar/288475 ^@ NM_001048166.1(STIL):c.2487C>T (p.Val829=) http://identifiers.org/clinvar/288476 ^@ NM_004006.2(DMD):c.2861G>A (p.Trp954Ter) http://identifiers.org/clinvar/288477 ^@ NM_018136.4(ASPM):c.3183T>C (p.Leu1061=) http://identifiers.org/clinvar/288478 ^@ NM_001130438.2(SPTAN1):c.2343C>T (p.Ala781=) http://identifiers.org/clinvar/288480 ^@ NM_032119.3(ADGRV1):c.15334C>T (p.Arg5112Cys) http://identifiers.org/clinvar/288481 ^@ NM_012301.3(MAGI2):c.3798T>C (p.Ser1266=) http://identifiers.org/clinvar/288482 ^@ NM_005477.2(HCN4):c.743A>G (p.Lys248Arg) http://identifiers.org/clinvar/288483 ^@ NM_017780.3(CHD7):c.2960G>A (p.Arg987Gln) http://identifiers.org/clinvar/288484 ^@ NM_001193466.1(KANSL1):c.607G>A (p.Gly203Arg) http://identifiers.org/clinvar/288485 ^@ NM_001286577.1(C2CD3):c.3929T>C (p.Ile1310Thr) http://identifiers.org/clinvar/288486 ^@ NM_001286577.1(C2CD3):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/288487 ^@ NM_020822.2(KCNT1):c.2944-30_2944-7del24 http://identifiers.org/clinvar/288488 ^@ NM_020822.2(KCNT1):c.2944-34_2944-7del28 http://identifiers.org/clinvar/288489 ^@ NM_004369.3(COL6A3):c.2196G>A (p.Thr732=) http://identifiers.org/clinvar/288490 ^@ NM_015295.2(SMCHD1):c.63A>G (p.Gly21=) http://identifiers.org/clinvar/288491 ^@ NM_006790.2(MYOT):c.934G>T (p.Val312Leu) http://identifiers.org/clinvar/288492 ^@ NM_001130987.1(DYSF):c.1160A>G (p.Lys387Arg) http://identifiers.org/clinvar/288493 ^@ NM_001130987.1(DYSF):c.2462G>A (p.Arg821His) http://identifiers.org/clinvar/288494 ^@ NM_013382.5(POMT2):c.1558G>A (p.Asp520Asn) http://identifiers.org/clinvar/288495 ^@ NM_001128227.2(GNE):c.2206G>A (p.Ala736Thr) http://identifiers.org/clinvar/288496 ^@ NM_001130987.1(DYSF):c.378G>T (p.Pro126=) http://identifiers.org/clinvar/288497 ^@ NM_003494.3(DYSF):c.3261T>G (p.Asp1087Glu) http://identifiers.org/clinvar/288498 ^@ NM_033071.3(SYNE1):c.1351C>T (p.Arg451Trp) http://identifiers.org/clinvar/288499 ^@ NM_012210.3(TRIM32):c.939G>A (p.Ala313=) http://identifiers.org/clinvar/288500 ^@ NM_001449.4(FHL1):c.113A>G (p.Asn38Ser) http://identifiers.org/clinvar/288501 ^@ NM_004369.3(COL6A3):c.1370G>T (p.Gly457Val) http://identifiers.org/clinvar/288502 ^@ NM_000152.4(GAA):c.1637G>T (p.Gly546Val) http://identifiers.org/clinvar/288503 ^@ NM_004369.3(COL6A3):c.6309+1G>T http://identifiers.org/clinvar/288504 ^@ NM_004369.3(COL6A3):c.8744C>T (p.Ala2915Val) http://identifiers.org/clinvar/288505 ^@ NM_000152.4(GAA):c.736delC (p.Leu246Phefs) http://identifiers.org/clinvar/288506 ^@ NM_004006.2(DMD):c.10306C>T (p.Arg3436Cys) http://identifiers.org/clinvar/288507 ^@ NM_033071.3(SYNE1):c.26029G>A (p.Asp8677Asn) http://identifiers.org/clinvar/288508 ^@ NM_000070.2(CAPN3):c.1484T>C (p.Leu495Pro) http://identifiers.org/clinvar/288509 ^@ NM_033071.3(SYNE1):c.16598A>C (p.Gln5533Pro) http://identifiers.org/clinvar/288510 ^@ NM_033071.3(SYNE1):c.16608_16609insAGTGGCA (p.Glu5537Serfs) http://identifiers.org/clinvar/288511 ^@ NM_001256850.1(TTN):c.100831C>T (p.Arg33611Ter) http://identifiers.org/clinvar/288512 ^@ NM_001127464.2(ZNF469):c.8009T>A (p.Leu2670Gln) http://identifiers.org/clinvar/288513 ^@ NM_001127464.2(ZNF469):c.8520C>T (p.Arg2840=) http://identifiers.org/clinvar/288514 ^@ NM_133379.4(TTN):c.8641+4dupA http://identifiers.org/clinvar/288515 ^@ NM_000152.4(GAA):c.702G>A (p.Thr234=) http://identifiers.org/clinvar/288516 ^@ NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=) http://identifiers.org/clinvar/288517 ^@ NM_213599.2(ANO5):c.1031C>G (p.Pro344Arg) http://identifiers.org/clinvar/288518 ^@ NM_033071.3(SYNE1):c.14273G>A (p.Gly4758Glu) http://identifiers.org/clinvar/288519 ^@ NM_001267550.2(TTN):c.56943G>A (p.Ala18981=) http://identifiers.org/clinvar/288520 ^@ NM_001267550.2(TTN):c.28785C>T (p.His9595=) http://identifiers.org/clinvar/288521 ^@ NM_005422.2(TECTA):c.2444C>T (p.Thr815Met) http://identifiers.org/clinvar/288522 ^@ NM_001008388.4(CISD2):c.12G>A (p.Glu4=) http://identifiers.org/clinvar/288523 ^@ NM_032119.3(ADGRV1):c.2567A>G (p.Tyr856Cys) http://identifiers.org/clinvar/288524 ^@ NM_001614.3(ACTG1):c.1017G>C (p.Val339=) http://identifiers.org/clinvar/288525 ^@ NM_020436.4(SALL4):c.1020C>T (p.Gly340=) http://identifiers.org/clinvar/288526 ^@ NM_000260.3(MYO7A):c.5169-6C>T http://identifiers.org/clinvar/288527 ^@ NM_000302.3(PLOD1):c.402delA (p.Asp135Thrfs) http://identifiers.org/clinvar/288528 ^@ NM_000302.3(PLOD1):c.1470+2T>C http://identifiers.org/clinvar/288529 ^@ NM_000272.3(NPHP1):c.1955C>T (p.Thr652Met) http://identifiers.org/clinvar/288530 ^@ NM_018249.5(CDK5RAP2):c.1218G>A (p.Gln406=) http://identifiers.org/clinvar/288531 ^@ NM_005249.4(FOXG1):c.689G>T (p.Arg230Leu) http://identifiers.org/clinvar/288532 ^@ NM_005045.3(RELN):c.8347G>A (p.Gly2783Ser) http://identifiers.org/clinvar/288533 ^@ NM_006493.2(CLN5):c.489A>G (p.Lys163=) http://identifiers.org/clinvar/288534 ^@ NM_024649.4(BBS1):c.1334G>C (p.Gly445Ala) http://identifiers.org/clinvar/288535 ^@ NM_015102.4(NPHP4):c.1127C>T (p.Ser376Leu) http://identifiers.org/clinvar/288536 ^@ NM_023036.4(DNAI2):c.253G>C (p.Val85Leu) http://identifiers.org/clinvar/288537 ^@ NM_001277115.1(DNAH11):c.9572C>T (p.Thr3191Ile) http://identifiers.org/clinvar/288538 ^@ NM_003611.2(OFD1):c.276T>C (p.Ser92=) http://identifiers.org/clinvar/288539 ^@ NM_145014.2(HYLS1):c.24A>G (p.Gly8=) http://identifiers.org/clinvar/288540 ^@ NM_032119.3(ADGRV1):c.17884A>T (p.Ser5962Cys) http://identifiers.org/clinvar/288541 ^@ NM_023073.3(C5orf42):c.608A>G (p.Tyr203Cys) http://identifiers.org/clinvar/288542 ^@ NM_017950.3(CCDC40):c.2968G>A (p.Asp990Asn) http://identifiers.org/clinvar/288543 ^@ NM_001369.2(DNAH5):c.10784C>T (p.Thr3595Met) http://identifiers.org/clinvar/288544 ^@ NM_001127221.1(CACNA1A):c.3095A>G (p.Glu1032Gly) http://identifiers.org/clinvar/288545 ^@ NM_015192.3(PLCB1):c.2127G>A (p.Arg709=) http://identifiers.org/clinvar/288546 ^@ NM_207346.2(TSEN54):c.932G>A (p.Arg311His) http://identifiers.org/clinvar/288547 ^@ NM_032119.3(ADGRV1):c.8730+9C>T http://identifiers.org/clinvar/288548 ^@ NM_018136.4(ASPM):c.6891G>T (p.Arg2297=) http://identifiers.org/clinvar/288549 ^@ NM_018451.4(CENPJ):c.1681_1684delTTAG (p.Leu561Argfs) http://identifiers.org/clinvar/288550 ^@ NM_018451.4(CENPJ):c.556T>C (p.Cys186Arg) http://identifiers.org/clinvar/288551 ^@ NM_006922.3(SCN3A):c.5889T>C (p.Ser1963=) http://identifiers.org/clinvar/288552 ^@ NM_001844.4(COL2A1):c.714dupC (p.Met239Hisfs) http://identifiers.org/clinvar/288553 ^@ NM_000543.4(SMPD1):c.559C>A (p.Pro187Thr) http://identifiers.org/clinvar/288554 ^@ NM_003742.2(ABCB11):c.1069G>T (p.Gly357Ter) http://identifiers.org/clinvar/288555 ^@ NM_003742.2(ABCB11):c.1445A>G (p.Asp482Gly) http://identifiers.org/clinvar/288556 ^@ NM_000089.3(COL1A2):c.2944-4A>T http://identifiers.org/clinvar/288557 ^@ NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) http://identifiers.org/clinvar/288558 ^@ NM_022437.2(ABCG8):c.161A>G (p.Tyr54Cys) http://identifiers.org/clinvar/288559 ^@ NM_001080522.2(CC2D2A):c.1956G>A (p.Pro652=) http://identifiers.org/clinvar/288560 ^@ NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) http://identifiers.org/clinvar/288561 ^@ NM_003106.3(SOX2):c.518_522dupTGATG (p.Gln175Terfs) http://identifiers.org/clinvar/288562 ^@ NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) http://identifiers.org/clinvar/288563 ^@ NM_003282.3(TNNI2):c.109C>T (p.Arg37Cys) http://identifiers.org/clinvar/288564 ^@ NM_000540.2(RYR1):c.6406C>T (p.Arg2136Cys) http://identifiers.org/clinvar/288565 ^@ NM_005609.3(PYGM):c.8G>A (p.Arg3Gln) http://identifiers.org/clinvar/288566 ^@ NM_000036.2(AMPD1):c.2074-10A>G http://identifiers.org/clinvar/288567 ^@ NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr) http://identifiers.org/clinvar/288568 ^@ NM_001457.3(FLNB):c.1946G>A (p.Arg649Gln) http://identifiers.org/clinvar/288569 ^@ NM_001006657.1(WDR35):c.1183A>T (p.Asn395Tyr) http://identifiers.org/clinvar/288570 ^@ NM_000168.5(GLI3):c.648C>T (p.Ile216=) http://identifiers.org/clinvar/288571 ^@ NM_007317.2(KIF22):c.1780G>A (p.Asp594Asn) http://identifiers.org/clinvar/288572 ^@ NM_013227.3(ACAN):c.6978G>A (p.Lys2326=) http://identifiers.org/clinvar/288573 ^@ NM_000231.2(SGCG):c.118G>C (p.Val40Leu) http://identifiers.org/clinvar/288574 ^@ NM_033071.3(SYNE1):c.4968G>A (p.Ala1656=) http://identifiers.org/clinvar/288575 ^@ NM_033071.3(SYNE1):c.10081G>C (p.Glu3361Gln) http://identifiers.org/clinvar/288576 ^@ NM_004369.3(COL6A3):c.5296C>G (p.Leu1766Val) http://identifiers.org/clinvar/288577 ^@ NM_001130987.1(DYSF):c.4904A>G (p.Asn1635Ser) http://identifiers.org/clinvar/288578 ^@ NM_000231.2(SGCG):c.161C>A (p.Thr54Lys) http://identifiers.org/clinvar/288579 ^@ NM_003494.3(DYSF):c.5477A>G (p.Asp1826Gly) http://identifiers.org/clinvar/288580 ^@ NM_003494.3(DYSF):c.1828G>A (p.Ala610Thr) http://identifiers.org/clinvar/288581 ^@ NM_000052.6(ATP7A):c.2694delG (p.Ser899Hisfs) http://identifiers.org/clinvar/288582 ^@ NM_000545.6(HNF1A):c.-160_-154dupTGGGGGT http://identifiers.org/clinvar/288583 ^@ NM_173660.4(DOK7):c.55-10G>T http://identifiers.org/clinvar/288584 ^@ NM_170740.1(ALDH5A1):c.154G>A (p.Ala52Thr) http://identifiers.org/clinvar/288585 ^@ NM_017780.3(CHD7):c.380delC (p.Pro127Leufs) http://identifiers.org/clinvar/288586 ^@ NM_001849.3(COL6A2):c.2251G>A (p.Asp751Asn) http://identifiers.org/clinvar/288587 ^@ NM_017780.3(CHD7):c.500C>T (p.Pro167Leu) http://identifiers.org/clinvar/288588 ^@ NM_138694.3(PKHD1):c.4105C>T (p.Arg1369Cys) http://identifiers.org/clinvar/288589 ^@ NM_018136.4(ASPM):c.8483T>C (p.Met2828Thr) http://identifiers.org/clinvar/288590 ^@ NM_033071.3(SYNE1):c.16685A>G (p.Asp5562Gly) http://identifiers.org/clinvar/288591 ^@ NM_015346.3(ZFYVE26):c.5518C>T (p.Arg1840Trp) http://identifiers.org/clinvar/288592 ^@ NM_015346.3(ZFYVE26):c.3722G>A (p.Arg1241Gln) http://identifiers.org/clinvar/288593 ^@ NM_000791.3(DHFR):c.90T>G (p.Asn30Lys) http://identifiers.org/clinvar/288594 ^@ NM_001190388.1(GNE):c.95C>T (p.Ser32Leu) http://identifiers.org/clinvar/288595 ^@ NM_000023.3(SGCA):c.541C>A (p.Arg181Ser) http://identifiers.org/clinvar/288596 ^@ NM_017739.3(POMGNT1):c.266G>A (p.Arg89Gln) http://identifiers.org/clinvar/288597 ^@ NM_033071.3(SYNE1):c.24593G>T (p.Arg8198Leu) http://identifiers.org/clinvar/288598 ^@ NM_024301.4(FKRP):c.385G>C (p.Val129Leu) http://identifiers.org/clinvar/288599 ^@ NM_033071.3(SYNE1):c.11257C>T (p.Arg3753Trp) http://identifiers.org/clinvar/288600 ^@ NM_007171.3(POMT1):c.2124C>T (p.Ser708=) http://identifiers.org/clinvar/288601 ^@ NM_001849.3(COL6A2):c.1645G>A (p.Gly549Arg) http://identifiers.org/clinvar/288602 ^@ NM_004369.3(COL6A3):c.1065C>T (p.Ala355=) http://identifiers.org/clinvar/288603 ^@ NM_182961.3(SYNE1):c.5016G>A (p.Glu1672=) http://identifiers.org/clinvar/288604 ^@ NM_033071.3(SYNE1):c.9282C>T (p.Thr3094=) http://identifiers.org/clinvar/288605 ^@ NM_033071.3(SYNE1):c.19856C>T (p.Thr6619Met) http://identifiers.org/clinvar/288606 ^@ NM_033071.3(SYNE1):c.19517G>A (p.Arg6506Gln) http://identifiers.org/clinvar/288607 ^@ NM_033071.3(SYNE1):c.7242G>C (p.Leu2414=) http://identifiers.org/clinvar/288608 ^@ NM_004006.2(DMD):c.9987A>G (p.Leu3329=) http://identifiers.org/clinvar/288609 ^@ NM_000231.2(SGCG):c.230G>C (p.Gly77Ala) http://identifiers.org/clinvar/288610 ^@ NM_182961.3(SYNE1):c.8574A>G (p.Ser2858=) http://identifiers.org/clinvar/288611 ^@ NM_001849.3(COL6A2):c.1348G>C (p.Glu450Gln) http://identifiers.org/clinvar/288612 ^@ NM_058246.3(DNAJB6):c.891C>T (p.Ser297=) http://identifiers.org/clinvar/288613 ^@ NM_004369.3(COL6A3):c.9116C>T (p.Thr3039Met) http://identifiers.org/clinvar/288614 ^@ NM_001128227.2(GNE):c.390T>G (p.Leu130=) http://identifiers.org/clinvar/288615 ^@ NM_033071.3(SYNE1):c.7873A>T (p.Ser2625Cys) http://identifiers.org/clinvar/288616 ^@ NM_033071.3(SYNE1):c.7872G>T (p.Arg2624=) http://identifiers.org/clinvar/288617 ^@ NM_001128227.2(GNE):c.300C>T (p.Asn100=) http://identifiers.org/clinvar/288618 ^@ NM_001848.2(COL6A1):c.226A>C (p.Arg76=) http://identifiers.org/clinvar/288619 ^@ NM_001130987.1(DYSF):c.5934C>A (p.Ala1978=) http://identifiers.org/clinvar/288620 ^@ NM_004369.3(COL6A3):c.438C>T (p.Ile146=) http://identifiers.org/clinvar/288621 ^@ NM_033071.3(SYNE1):c.11946T>C (p.Ser3982=) http://identifiers.org/clinvar/288622 ^@ NM_033071.3(SYNE1):c.25951-9T>C http://identifiers.org/clinvar/288623 ^@ NM_001130987.1(DYSF):c.4188C>T (p.Pro1396=) http://identifiers.org/clinvar/288624 ^@ NM_001130987.1(DYSF):c.4321C>T (p.Arg1441Cys) http://identifiers.org/clinvar/288625 ^@ NM_001130987.1(DYSF):c.224C>T (p.Thr75Met) http://identifiers.org/clinvar/288626 ^@ NM_004006.2(DMD):c.3778A>G (p.Thr1260Ala) http://identifiers.org/clinvar/288627 ^@ NM_017739.3(POMGNT1):c.1923A>C (p.Pro641=) http://identifiers.org/clinvar/288628 ^@ NM_024301.4(FKRP):c.1256_1257delCC (p.Pro419Leufs) http://identifiers.org/clinvar/288629 ^@ NM_004369.3(COL6A3):c.2756C>T (p.Ala919Val) http://identifiers.org/clinvar/288630 ^@ NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) http://identifiers.org/clinvar/288631 ^@ NM_001101426.3(ISPD):c.139G>A (p.Val47Met) http://identifiers.org/clinvar/288632 ^@ NM_033071.3(SYNE1):c.17287G>A (p.Glu5763Lys) http://identifiers.org/clinvar/288633 ^@ NM_015295.2(SMCHD1):c.1186C>A (p.Gln396Lys) http://identifiers.org/clinvar/288634 ^@ NM_000152.4(GAA):c.667C>T (p.Arg223Cys) http://identifiers.org/clinvar/288635 ^@ NM_033071.3(SYNE1):c.24976-6A>G http://identifiers.org/clinvar/288636 ^@ NM_033071.3(SYNE1):c.15444+5T>A http://identifiers.org/clinvar/288637 ^@ NM_000023.3(SGCA):c.770delC (p.Pro257Leufs) http://identifiers.org/clinvar/288638 ^@ NM_033071.3(SYNE1):c.12012+4G>A http://identifiers.org/clinvar/288639 ^@ NM_001849.3(COL6A2):c.2784C>T (p.Ile928=) http://identifiers.org/clinvar/288640 ^@ NM_033071.3(SYNE1):c.11908C>T (p.Arg3970Ter) http://identifiers.org/clinvar/288641 ^@ NM_001130987.1(DYSF):c.4503G>A (p.Thr1501=) http://identifiers.org/clinvar/288642 ^@ NM_001849.3(COL6A2):c.1860C>T (p.Ile620=) http://identifiers.org/clinvar/288643 ^@ NM_004369.3(COL6A3):c.2231C>T (p.Pro744Leu) http://identifiers.org/clinvar/288644 ^@ NM_001130987.1(DYSF):c.2865-2A>C http://identifiers.org/clinvar/288645 ^@ NM_004369.3(COL6A3):c.2497+9C>A http://identifiers.org/clinvar/288646 ^@ NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) http://identifiers.org/clinvar/288647 ^@ NM_003494.3(DYSF):c.5529G>A (p.Trp1843Ter) http://identifiers.org/clinvar/288648 ^@ NM_001130987.1(DYSF):c.870C>G (p.Asn290Lys) http://identifiers.org/clinvar/288649 ^@ NM_033071.3(SYNE1):c.25259G>A (p.Arg8420His) http://identifiers.org/clinvar/288650 ^@ NM_001130987.1(DYSF):c.938C>T (p.Pro313Leu) http://identifiers.org/clinvar/288651 ^@ NM_001101426.3(ISPD):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/288652 ^@ NM_013382.5(POMT2):c.795C>T (p.Phe265=) http://identifiers.org/clinvar/288653 ^@ NM_012470.3(TNPO3):c.1607A>C (p.Gln536Pro) http://identifiers.org/clinvar/288654 ^@ NM_004006.2(DMD):c.31+256A>G http://identifiers.org/clinvar/288655 ^@ NM_001849.3(COL6A2):c.2968C>T (p.Leu990=) http://identifiers.org/clinvar/288656 ^@ NM_013382.5(POMT2):c.662T>A (p.Phe221Tyr) http://identifiers.org/clinvar/288657 ^@ NM_213599.2(ANO5):c.1723G>A (p.Val575Ile) http://identifiers.org/clinvar/288658 ^@ NM_012210.3(TRIM32):c.521C>T (p.Ser174Phe) http://identifiers.org/clinvar/288659 ^@ NM_033071.3(SYNE1):c.116C>G (p.Ser39Cys) http://identifiers.org/clinvar/288660 ^@ NM_004369.3(COL6A3):c.8140G>T (p.Ala2714Ser) http://identifiers.org/clinvar/288661 ^@ NM_006731.2(FKTN):c.366T>G (p.Asn122Lys) http://identifiers.org/clinvar/288662 ^@ NM_182961.3(SYNE1):c.25515C>T (p.Cys8505=) http://identifiers.org/clinvar/288663 ^@ NM_033071.3(SYNE1):c.18446G>A (p.Arg6149His) http://identifiers.org/clinvar/288664 ^@ NM_001128227.2(GNE):c.1744A>G (p.Ile582Val) http://identifiers.org/clinvar/288665 ^@ NM_170707.3(LMNA):c.1311C>T (p.Ser437=) http://identifiers.org/clinvar/288666 ^@ NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) http://identifiers.org/clinvar/288667 ^@ NM_182961.3(SYNE1):c.20549A>T (p.Asp6850Val) http://identifiers.org/clinvar/288668 ^@ NM_213599.2(ANO5):c.2696T>C (p.Val899Ala) http://identifiers.org/clinvar/288669 ^@ NM_013382.5(POMT2):c.1290C>T (p.Ala430=) http://identifiers.org/clinvar/288670 ^@ NM_033071.3(SYNE1):c.10729C>T (p.Arg3577Trp) http://identifiers.org/clinvar/288671 ^@ NM_001267550.2(TTN):c.7524T>C (p.His2508=) http://identifiers.org/clinvar/288672 ^@ NM_001267550.2(TTN):c.96655G>A (p.Val32219Ile) http://identifiers.org/clinvar/288673 ^@ NM_000152.4(GAA):c.1418G>C (p.Gly473Ala) http://identifiers.org/clinvar/288674 ^@ NM_000445.4(PLEC):c.6612G>A (p.Thr2204=) http://identifiers.org/clinvar/288675 ^@ NM_015295.2(SMCHD1):c.3868G>T (p.Asp1290Tyr) http://identifiers.org/clinvar/288676 ^@ NM_001267550.2(TTN):c.29977C>T (p.Arg9993Trp) http://identifiers.org/clinvar/288677 ^@ NM_000445.4(PLEC):c.8029C>T (p.Arg2677Trp) http://identifiers.org/clinvar/288678 ^@ NM_004006.2(DMD):c.31+218C>T http://identifiers.org/clinvar/288679 ^@ NM_001267550.2(TTN):c.73182A>T (p.Glu24394Asp) http://identifiers.org/clinvar/288680 ^@ NM_001848.2(COL6A1):c.957+6C>T http://identifiers.org/clinvar/288681 ^@ NM_000152.4(GAA):c.1347G>A (p.Ser449=) http://identifiers.org/clinvar/288682 ^@ NM_004006.2(DMD):c.31+265A>T http://identifiers.org/clinvar/288683 ^@ NM_001128227.2(GNE):c.1763T>C (p.Ile588Thr) http://identifiers.org/clinvar/288684 ^@ NM_001267550.2(TTN):c.79519G>A (p.Ala26507Thr) http://identifiers.org/clinvar/288685 ^@ NM_001267550.2(TTN):c.79520C>A (p.Ala26507Asp) http://identifiers.org/clinvar/288686 ^@ NM_004369.3(COL6A3):c.709+8C>T http://identifiers.org/clinvar/288687 ^@ NM_001101426.3(ISPD):c.24C>T (p.Ser8=) http://identifiers.org/clinvar/288688 ^@ NM_033071.3(SYNE1):c.20204A>C (p.Asp6735Ala) http://identifiers.org/clinvar/288689 ^@ NM_004006.2(DMD):c.31+233C>T http://identifiers.org/clinvar/288690 ^@ NM_004006.2(DMD):c.31+229A>C http://identifiers.org/clinvar/288691 ^@ NM_182961.3(SYNE1):c.-9G>T http://identifiers.org/clinvar/288692 ^@ NM_024408.3(NOTCH2):c.6477G>A (p.Thr2159=) http://identifiers.org/clinvar/288693 ^@ NM_138694.3(PKHD1):c.1974C>T (p.Phe658=) http://identifiers.org/clinvar/288694 ^@ NM_018849.2(ABCB4):c.2198C>T (p.Ser733Leu) http://identifiers.org/clinvar/288695 ^@ NM_001079867.1(PEX2):c.322G>C (p.Val108Leu) http://identifiers.org/clinvar/288696 ^@ NM_018849.2(ABCB4):c.2191A>G (p.Ile731Val) http://identifiers.org/clinvar/288697 ^@ NM_012254.2(SLC27A5):c.524C>T (p.Thr175Ile) http://identifiers.org/clinvar/288698 ^@ NM_002693.2(POLG):c.2487C>T (p.Pro829=) http://identifiers.org/clinvar/288699 ^@ NM_022437.2(ABCG8):c.870C>T (p.Thr290=) http://identifiers.org/clinvar/288700 ^@ NM_000392.4(ABCC2):c.1464+4A>C http://identifiers.org/clinvar/288701 ^@ NM_000235.3(LIPA):c.870G>A (p.Val290=) http://identifiers.org/clinvar/288702 ^@ NM_152415.2(VPS37A):c.-19G>A http://identifiers.org/clinvar/288703 ^@ NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) http://identifiers.org/clinvar/288704 ^@ NM_005603.4(ATP8B1):c.1633C>A (p.Gln545Lys) http://identifiers.org/clinvar/288705 ^@ NM_004820.4(CYP7B1):c.530C>T (p.Thr177Met) http://identifiers.org/clinvar/288706 ^@ NM_000466.2(PEX1):c.2636_2638delTGT (p.Leu879del) http://identifiers.org/clinvar/288707 ^@ NM_153818.1(PEX10):c.994G>A (p.Glu332Lys) http://identifiers.org/clinvar/288708 ^@ NM_003742.2(ABCB11):c.3457C>G (p.Arg1153Gly) http://identifiers.org/clinvar/288709 ^@ NM_017777.3(MKS1):c.12C>T (p.Thr4=) http://identifiers.org/clinvar/288710 ^@ NM_005603.4(ATP8B1):c.530C>T (p.Thr177Met) http://identifiers.org/clinvar/288711 ^@ NM_003742.2(ABCB11):c.22C>T (p.Arg8Ter) http://identifiers.org/clinvar/288712 ^@ NM_022437.2(ABCG8):c.1837T>C (p.Tyr613His) http://identifiers.org/clinvar/288713 ^@ NM_000287.3(PEX6):c.1220C>A (p.Thr407Asn) http://identifiers.org/clinvar/288714 ^@ NM_000214.2(JAG1):c.56C>T (p.Ala19Val) http://identifiers.org/clinvar/288715 ^@ NM_012254.2(SLC27A5):c.356C>A (p.Ala119Asp) http://identifiers.org/clinvar/288716 ^@ NM_005603.4(ATP8B1):c.3410C>G (p.Ser1137Ter) http://identifiers.org/clinvar/288717 ^@ NM_138694.3(PKHD1):c.193G>A (p.Val65Met) http://identifiers.org/clinvar/288718 ^@ NM_018849.2(ABCB4):c.524C>T (p.Thr175Met) http://identifiers.org/clinvar/288719 ^@ NM_138694.3(PKHD1):c.7744C>T (p.Pro2582Ser) http://identifiers.org/clinvar/288720 ^@ NM_138694.3(PKHD1):c.2194G>T (p.Val732Phe) http://identifiers.org/clinvar/288721 ^@ NM_000466.2(PEX1):c.2750C>T (p.Ala917Val) http://identifiers.org/clinvar/288722 ^@ NM_015102.4(NPHP4):c.3168C>T (p.His1056=) http://identifiers.org/clinvar/288723 ^@ NM_015102.4(NPHP4):c.1048G>A (p.Gly350Ser) http://identifiers.org/clinvar/288724 ^@ NM_015102.4(NPHP4):c.3150G>A (p.Gln1050=) http://identifiers.org/clinvar/288725 ^@ NM_004006.2(DMD):c.9563+1G>A http://identifiers.org/clinvar/288726 ^@ NM_003742.2(ABCB11):c.3457C>T (p.Arg1153Cys) http://identifiers.org/clinvar/288727 ^@ NM_000255.3(MUT):c.461G>A (p.Arg154His) http://identifiers.org/clinvar/288728 ^@ NM_003060.3(SLC22A5):c.1229G>A (p.Gly410Asp) http://identifiers.org/clinvar/288729 ^@ NM_138694.3(PKHD1):c.3604G>A (p.Glu1202Lys) http://identifiers.org/clinvar/288730 ^@ NM_000642.2(AGL):c.2158-1G>A http://identifiers.org/clinvar/288731 ^@ NM_000352.4(ABCC8):c.3976G>A (p.Glu1326Lys) http://identifiers.org/clinvar/288732 ^@ NM_003060.3(SLC22A5):c.572A>G (p.Lys191Arg) http://identifiers.org/clinvar/288733 ^@ NM_005562.2(LAMC2):c.1637_1651delCCGGCATCTACTGCG (p.Ala546_Cys550del) http://identifiers.org/clinvar/288734 ^@ NM_019098.4(CNGB3):c.912C>T (p.Val304=) http://identifiers.org/clinvar/288735 ^@ NM_001271208.1(NEB):c.21591C>T (p.His7197=) http://identifiers.org/clinvar/288736 ^@ NM_004369.3(COL6A3):c.6180C>T (p.Tyr2060=) http://identifiers.org/clinvar/288737 ^@ NM_033071.3(SYNE1):c.16065G>A (p.Thr5355=) http://identifiers.org/clinvar/288738 ^@ NM_015295.2(SMCHD1):c.5175+3T>C http://identifiers.org/clinvar/288739 ^@ NM_004369.3(COL6A3):c.9193C>T (p.Gln3065Ter) http://identifiers.org/clinvar/288740 ^@ NM_001849.3(COL6A2):c.2745G>A (p.Ser915=) http://identifiers.org/clinvar/288741 ^@ NM_033071.3(SYNE1):c.7454C>G (p.Ser2485Cys) http://identifiers.org/clinvar/288742 ^@ NM_004369.3(COL6A3):c.1846A>G (p.Met616Val) http://identifiers.org/clinvar/288743 ^@ NM_004380.2(CREBBP):c.5670C>T (p.Pro1890=) http://identifiers.org/clinvar/288744 ^@ NM_012144.3(DNAI1):c.1703G>C (p.Trp568Ser) http://identifiers.org/clinvar/288745 ^@ NM_015338.5(ASXL1):c.1162_1163delGT (p.Val388Profs) http://identifiers.org/clinvar/288746 ^@ NM_013334.3(GMPPB):c.1129G>A (p.Gly377Ser) http://identifiers.org/clinvar/288747 ^@ NM_000283.3(PDE6B):c.2504-1G>C http://identifiers.org/clinvar/288748 ^@ NM_005236.2(ERCC4):c.915delA (p.Asn308Ilefs) http://identifiers.org/clinvar/288749 ^@ NM_000551.3(VHL):c.394C>T (p.Gln132Ter) http://identifiers.org/clinvar/288750 ^@ NM_000744.6(CHRNA4):c.1653C>A (p.Thr551=) http://identifiers.org/clinvar/288751 ^@ NM_021072.3(HCN1):c.135C>T (p.Gly45=) http://identifiers.org/clinvar/288752 ^@ NM_001456.3(FLNA):c.3708C>T (p.Gly1236=) http://identifiers.org/clinvar/288753 ^@ NM_182734.2(PLCB1):c.1188G>A (p.Ala396=) http://identifiers.org/clinvar/288754 ^@ NM_018136.4(ASPM):c.5351A>G (p.Tyr1784Cys) http://identifiers.org/clinvar/288755 ^@ NM_015243.2(VPS13B):c.1529G>A (p.Arg510His) http://identifiers.org/clinvar/288757 ^@ NM_139125.3(MASP1):c.103G>T (p.Gly35Cys) http://identifiers.org/clinvar/288758 ^@ NM_017433.4(MYO3A):c.2506-1G>A http://identifiers.org/clinvar/288759 ^@ NM_033071.3(SYNE1):c.180T>G (p.Gly60=) http://identifiers.org/clinvar/288760 ^@ NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) http://identifiers.org/clinvar/288761 ^@ NM_013382.5(POMT2):c.825G>A (p.Val275=) http://identifiers.org/clinvar/288762 ^@ NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) http://identifiers.org/clinvar/288763 ^@ NM_000152.4(GAA):c.1692T>G (p.Phe564Leu) http://identifiers.org/clinvar/288764 ^@ NM_003611.2(OFD1):c.1412-11dupT http://identifiers.org/clinvar/288765 ^@ NM_001039.3(SCNN1G):c.342A>G (p.Leu114=) http://identifiers.org/clinvar/288766 ^@ NM_153717.2(EVC):c.1082A>G (p.Gln361Arg) http://identifiers.org/clinvar/288767 ^@ NM_005413.3(SIX3):c.613G>C (p.Asp205His) http://identifiers.org/clinvar/288768 ^@ NM_000208.3(INSR):c.169G>A (p.Glu57Lys) http://identifiers.org/clinvar/288769 ^@ NM_024757.4(EHMT1):c.388C>G (p.Pro130Ala) http://identifiers.org/clinvar/288770 ^@ NM_000048.3(ASL):c.332G>A (p.Arg111Gln) http://identifiers.org/clinvar/288771 ^@ NM_021939.3(FKBP10):c.429T>G (p.Asp143Glu) http://identifiers.org/clinvar/288772 ^@ NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) http://identifiers.org/clinvar/288773 ^@ NM_005996.3(TBX3):c.1974C>T (p.Ala658=) http://identifiers.org/clinvar/288774 ^@ NM_001029883.2(C2orf71):c.2227_2228delAG (p.Leu744Glufs) http://identifiers.org/clinvar/288775 ^@ NM_001029883.2(C2orf71):c.1828C>T (p.Gln610Ter) http://identifiers.org/clinvar/288776 ^@ NM_006899.4(IDH3B):c.981G>A (p.Leu327=) http://identifiers.org/clinvar/288777 ^@ NM_000070.2(CAPN3):c.1999dupG (p.Glu667Glyfs) http://identifiers.org/clinvar/288778 ^@ NM_001271208.1(NEB):c.17557_17558delGA (p.Glu5853Asnfs) http://identifiers.org/clinvar/288779 ^@ NM_001267550.2(TTN):c.51091A>G (p.Asn17031Asp) http://identifiers.org/clinvar/288780 ^@ NM_000033.3(ABCD1):c.1988T>C (p.Leu663Pro) http://identifiers.org/clinvar/288781 ^@ NM_020822.2(KCNT1):c.928G>A (p.Val310Ile) http://identifiers.org/clinvar/288782 ^@ NM_024596.4(MCPH1):c.701C>G (p.Ser234Cys) http://identifiers.org/clinvar/288783 ^@ NM_001127221.1(CACNA1A):c.6773C>T (p.Ala2258Val) http://identifiers.org/clinvar/288784 ^@ NM_000082.3(ERCC8):c.-3G>A http://identifiers.org/clinvar/288785 ^@ NM_020184.3(CNNM4):c.91T>C (p.Trp31Arg) http://identifiers.org/clinvar/288786 ^@ NM_001110556.1(FLNA):c.7612C>T (p.Leu2538=) http://identifiers.org/clinvar/288787 ^@ NM_015139.2(SLC35D1):c.986A>G (p.Tyr329Cys) http://identifiers.org/clinvar/288788 ^@ NM_001006657.1(WDR35):c.3500T>G (p.Ile1167Arg) http://identifiers.org/clinvar/288789 ^@ NM_025114.3(CEP290):c.6960+10G>C http://identifiers.org/clinvar/288790 ^@ NM_001173467.2(SP7):c.69G>A (p.Ala23=) http://identifiers.org/clinvar/288791 ^@ NM_080605.3(B3GALT6):c.180A>G (p.Ala60=) http://identifiers.org/clinvar/288792 ^@ NM_004006.2(DMD):c.8677C>T (p.Pro2893Ser) http://identifiers.org/clinvar/288793 ^@ NM_001130987.1(DYSF):c.3331C>T (p.Arg1111Cys) http://identifiers.org/clinvar/288794 ^@ NM_007171.3(POMT1):c.855G>C (p.Leu285Phe) http://identifiers.org/clinvar/288795 ^@ NM_012210.3(TRIM32):c.1180C>T (p.Arg394Cys) http://identifiers.org/clinvar/288796 ^@ NM_015295.2(SMCHD1):c.162G>T (p.Ala54=) http://identifiers.org/clinvar/288797 ^@ NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) http://identifiers.org/clinvar/288798 ^@ NM_004369.3(COL6A3):c.1077T>C (p.Ser359=) http://identifiers.org/clinvar/288799 ^@ NM_001849.3(COL6A2):c.3046C>T (p.Arg1016Cys) http://identifiers.org/clinvar/288801 ^@ NM_004369.3(COL6A3):c.3462C>T (p.Val1154=) http://identifiers.org/clinvar/288802 ^@ NM_018849.2(ABCB4):c.3457A>C (p.Ser1153Arg) http://identifiers.org/clinvar/288803 ^@ NM_001267550.2(TTN):c.68888_68889insATAC (p.Ile22964Tyrfs) http://identifiers.org/clinvar/288804 ^@ NM_015102.4(NPHP4):c.789C>T (p.His263=) http://identifiers.org/clinvar/288805 ^@ NM_000392.4(ABCC2):c.3547C>A (p.Leu1183Met) http://identifiers.org/clinvar/288806 ^@ NM_001080522.2(CC2D2A):c.395G>A (p.Arg132Gln) http://identifiers.org/clinvar/288807 ^@ NM_001267550.2(TTN):c.79519_79520delGCinsAA (p.Ala26507Asn) http://identifiers.org/clinvar/288808 ^@ NM_032580.3(HES7):c.576C>T (p.Pro192=) http://identifiers.org/clinvar/288809 ^@ NM_004463.2(FGD1):c.1564C>T (p.Arg522Cys) http://identifiers.org/clinvar/288810 ^@ NM_000392.4(ABCC2):c.2461A>G (p.Ser821Gly) http://identifiers.org/clinvar/288811 ^@ NM_018668.4(VPS33B):c.701-8_701-4delTGTTTinsGAT http://identifiers.org/clinvar/288812 ^@ NM_005876.4(SPEG):c.4566G>A (p.Glu1522=) http://identifiers.org/clinvar/288813 ^@ NM_005876.4(SPEG):c.9236A>G (p.His3079Arg) http://identifiers.org/clinvar/288814 ^@ NM_001267550.2(TTN):c.4910delG (p.Gly1637Alafs) http://identifiers.org/clinvar/288815 ^@ NM_033071.3(SYNE1):c.18418G>A (p.Gly6140Ser) http://identifiers.org/clinvar/288816 ^@ NM_001848.2(COL6A1):c.2034C>T (p.Ser678=) http://identifiers.org/clinvar/288817 ^@ NM_001101426.3(ISPD):c.360C>T (p.Val120=) http://identifiers.org/clinvar/288818 ^@ NM_004369.3(COL6A3):c.1872C>A (p.Leu624=) http://identifiers.org/clinvar/288819 ^@ NM_012210.3(TRIM32):c.24C>A (p.His8Gln) http://identifiers.org/clinvar/288820 ^@ NM_004369.3(COL6A3):c.5609G>A (p.Ser1870Asn) http://identifiers.org/clinvar/288821 ^@ NM_000023.3(SGCA):c.811C>T (p.His271Tyr) http://identifiers.org/clinvar/288822 ^@ NM_004006.2(DMD):c.7427A>G (p.Asn2476Ser) http://identifiers.org/clinvar/288823 ^@ NM_004006.2(DMD):c.7873-7T>G http://identifiers.org/clinvar/288824 ^@ NM_004006.2(DMD):c.9361+9T>C http://identifiers.org/clinvar/288825 ^@ NM_001110556.1(FLNA):c.6248_6249insTGTC (p.Ile2084Valfs) http://identifiers.org/clinvar/288826 ^@ NM_182961.3(SYNE1):c.22347-6T>G http://identifiers.org/clinvar/288827 ^@ NM_033071.3(SYNE1):c.11335A>G (p.Met3779Val) http://identifiers.org/clinvar/288828 ^@ NM_033071.3(SYNE1):c.21832-2dupA http://identifiers.org/clinvar/288829 ^@ NM_182961.3(SYNE1):c.338A>G (p.Asp113Gly) http://identifiers.org/clinvar/288830 ^@ NM_001130987.1(DYSF):c.5150G>A (p.Cys1717Tyr) http://identifiers.org/clinvar/288831 ^@ NM_001165928.3(DAG1):c.1719C>T (p.His573=) http://identifiers.org/clinvar/288832 ^@ NM_213599.2(ANO5):c.1639C>T (p.Arg547Ter) http://identifiers.org/clinvar/288833 ^@ NM_213599.2(ANO5):c.108_109delGA (p.Glu36Aspfs) http://identifiers.org/clinvar/288834 ^@ NM_033071.3(SYNE1):c.9369T>C (p.Asn3123=) http://identifiers.org/clinvar/288835 ^@ NM_001165928.3(DAG1):c.2208G>A (p.Val736=) http://identifiers.org/clinvar/288836 ^@ NM_001849.3(COL6A2):c.1970-10C>T http://identifiers.org/clinvar/288837 ^@ NM_001267550.2(TTN):c.81889G>A (p.Ala27297Thr) http://identifiers.org/clinvar/288838 ^@ NM_004369.3(COL6A3):c.4697C>T (p.Ser1566Leu) http://identifiers.org/clinvar/288839 ^@ NM_012470.3(TNPO3):c.478C>T (p.Arg160Ter) http://identifiers.org/clinvar/288840 ^@ NM_001165928.3(DAG1):c.2313C>T (p.Ala771=) http://identifiers.org/clinvar/288841 ^@ NM_004369.3(COL6A3):c.5622G>A (p.Arg1874=) http://identifiers.org/clinvar/288842 ^@ NM_001849.3(COL6A2):c.1054-2A>G http://identifiers.org/clinvar/288843 ^@ NM_015295.2(SMCHD1):c.1843-8_1843-5delAATA http://identifiers.org/clinvar/288844 ^@ NM_004369.3(COL6A3):c.7575G>A (p.Gln2525=) http://identifiers.org/clinvar/288845 ^@ NM_001849.3(COL6A2):c.2435T>C (p.Val812Ala) http://identifiers.org/clinvar/288846 ^@ NM_006731.2(FKTN):c.526T>G (p.Phe176Val) http://identifiers.org/clinvar/288847 ^@ NM_001101426.3(ISPD):c.914T>G (p.Val305Gly) http://identifiers.org/clinvar/288848 ^@ NM_033071.3(SYNE1):c.8421C>T (p.Leu2807=) http://identifiers.org/clinvar/288849 ^@ NM_033071.3(SYNE1):c.11496G>A (p.Met3832Ile) http://identifiers.org/clinvar/288850 ^@ NM_001130987.1(DYSF):c.2926A>G (p.Thr976Ala) http://identifiers.org/clinvar/288851 ^@ NM_004369.3(COL6A3):c.1432G>A (p.Gly478Arg) http://identifiers.org/clinvar/288852 ^@ NM_012470.3(TNPO3):c.1531T>C (p.Cys511Arg) http://identifiers.org/clinvar/288853 ^@ NM_213599.2(ANO5):c.1538C>T (p.Thr513Ile) http://identifiers.org/clinvar/288854 ^@ NM_012210.3(TRIM32):c.1648T>C (p.Phe550Leu) http://identifiers.org/clinvar/288855 ^@ NM_182961.3(SYNE1):c.23260G>A (p.Val7754Ile) http://identifiers.org/clinvar/288856 ^@ NM_015295.2(SMCHD1):c.4786C>T (p.Arg1596Trp) http://identifiers.org/clinvar/288857 ^@ NM_004369.3(COL6A3):c.893C>T (p.Thr298Ile) http://identifiers.org/clinvar/288858 ^@ NM_033071.3(SYNE1):c.2051G>A (p.Arg684His) http://identifiers.org/clinvar/288859 ^@ NM_004006.2(DMD):c.7449C>T (p.Thr2483=) http://identifiers.org/clinvar/288860 ^@ NM_001130987.1(DYSF):c.3520T>C (p.Cys1174Arg) http://identifiers.org/clinvar/288861 ^@ NM_004369.3(COL6A3):c.252C>T (p.Asn84=) http://identifiers.org/clinvar/288862 ^@ NM_006790.2(MYOT):c.634-14_634-10delGTTTT http://identifiers.org/clinvar/288863 ^@ NM_001849.3(COL6A2):c.1346C>G (p.Pro449Arg) http://identifiers.org/clinvar/288864 ^@ NM_004006.2(DMD):c.468A>C (p.Val156=) http://identifiers.org/clinvar/288865 ^@ NM_033071.3(SYNE1):c.118C>T (p.His40Tyr) http://identifiers.org/clinvar/288866 ^@ NM_172337.2(OTX2):c.*10G>A http://identifiers.org/clinvar/288867 ^@ NM_001243251.1(NARS2):c.163G>A (p.Ala55Thr) http://identifiers.org/clinvar/288868 ^@ NM_003850.2(SUCLA2):c.49C>G (p.Arg17Gly) http://identifiers.org/clinvar/288869 ^@ NM_001849.3(COL6A2):c.1612G>C (p.Gly538Arg) http://identifiers.org/clinvar/288870 ^@ NM_001849.3(COL6A2):c.391G>A (p.Gly131Ser) http://identifiers.org/clinvar/288871 ^@ NM_182961.3(SYNE1):c.19640G>A (p.Gly6547Asp) http://identifiers.org/clinvar/288872 ^@ NM_004369.3(COL6A3):c.6769G>A (p.Ala2257Thr) http://identifiers.org/clinvar/288873 ^@ NM_015295.2(SMCHD1):c.846A>G (p.Ile282Met) http://identifiers.org/clinvar/288874 ^@ NM_007171.3(POMT1):c.1999C>T (p.Leu667=) http://identifiers.org/clinvar/288875 ^@ NM_001848.2(COL6A1):c.2953G>A (p.Val985Ile) http://identifiers.org/clinvar/288876 ^@ NM_058246.3(DNAJB6):c.706G>A (p.Asp236Asn) http://identifiers.org/clinvar/288877 ^@ NM_004369.3(COL6A3):c.1538G>A (p.Arg513Gln) http://identifiers.org/clinvar/288878 ^@ NM_004369.3(COL6A3):c.9459A>G (p.Gly3153=) http://identifiers.org/clinvar/288879 ^@ NM_003494.3(DYSF):c.1353G>A (p.Met451Ile) http://identifiers.org/clinvar/288880 ^@ NM_001127221.1(CACNA1A):c.978+9T>C http://identifiers.org/clinvar/288881 ^@ NM_014141.5(CNTNAP2):c.387A>G (p.Gln129=) http://identifiers.org/clinvar/288882 ^@ NM_018136.4(ASPM):c.5939A>G (p.Tyr1980Cys) http://identifiers.org/clinvar/288883 ^@ NM_025243.3(SLC19A3):c.1145G>A (p.Ser382Asn) http://identifiers.org/clinvar/288884 ^@ NM_006662.2(SRCAP):c.7723T>A (p.Ser2575Thr) http://identifiers.org/clinvar/288885 ^@ NM_030665.3(RAI1):c.4711G>A (p.Ala1571Thr) http://identifiers.org/clinvar/288886 ^@ NM_015295.2(SMCHD1):c.3606T>C (p.Asp1202=) http://identifiers.org/clinvar/288887 ^@ NM_013382.5(POMT2):c.1824C>T (p.Tyr608=) http://identifiers.org/clinvar/288888 ^@ NM_182961.3(SYNE1):c.15202A>G (p.Lys5068Glu) http://identifiers.org/clinvar/288889 ^@ NM_001130987.1(DYSF):c.2070C>T (p.Ile690=) http://identifiers.org/clinvar/288890 ^@ NM_001849.3(COL6A2):c.2748C>A (p.His916Gln) http://identifiers.org/clinvar/288891 ^@ NM_001177317.1(SLC34A3):c.539G>C (p.Gly180Ala) http://identifiers.org/clinvar/288892 ^@ NM_017890.4(VPS13B):c.9258+6A>G http://identifiers.org/clinvar/288893 ^@ NM_015404.3(WHRN):c.827A>T (p.Asp276Val) http://identifiers.org/clinvar/288894 ^@ NM_172337.2(OTX2):c.617C>A (p.Thr206Asn) http://identifiers.org/clinvar/288895 ^@ NM_001298.2(CNGA3):c.143C>T (p.Pro48Leu) http://identifiers.org/clinvar/288896 ^@ NM_198506.4(LRIT3):c.1467C>T (p.Asn489=) http://identifiers.org/clinvar/288897 ^@ NM_005183.3(CACNA1F):c.2474_2475insAGAGGAAGA (p.Glu825_Gly826insGluGluGlu) http://identifiers.org/clinvar/288898 ^@ NM_001123385.1(BCOR):c.2008C>T (p.Pro670Ser) http://identifiers.org/clinvar/288899 ^@ NM_172364.4(CACNA2D4):c.1239G>A (p.Pro413=) http://identifiers.org/clinvar/288900 ^@ NM_213599.2(ANO5):c.139C>T (p.Pro47Ser) http://identifiers.org/clinvar/288901 ^@ NM_000023.3(SGCA):c.132G>A (p.Thr44=) http://identifiers.org/clinvar/288902 ^@ NM_013416.3(NCF4):c.271+7G>A http://identifiers.org/clinvar/288903 ^@ NM_020754.3(ARHGAP31):c.2792T>A (p.Val931Glu) http://identifiers.org/clinvar/288904 ^@ NM_016513.4(ICK):c.1419T>C (p.Tyr473=) http://identifiers.org/clinvar/288905 ^@ NM_001457.3(FLNB):c.6231C>T (p.Asp2077=) http://identifiers.org/clinvar/288906 ^@ NM_005529.6(HSPG2):c.10512C>T (p.His3504=) http://identifiers.org/clinvar/288907 ^@ NM_006037.3(HDAC4):c.571C>T (p.Leu191=) http://identifiers.org/clinvar/288908 ^@ NM_004260.3(RECQL4):c.1570C>T (p.Pro524Ser) http://identifiers.org/clinvar/288909 ^@ NM_000067.2(CA2):c.232+1G>A http://identifiers.org/clinvar/288910 ^@ NM_006486.2(FBLN1):c.268C>T (p.Arg90Cys) http://identifiers.org/clinvar/288911 ^@ NM_020436.4(SALL4):c.2386G>A (p.Glu796Lys) http://identifiers.org/clinvar/288912 ^@ NM_004465.1(FGF10):c.620A>C (p.His207Pro) http://identifiers.org/clinvar/288913 ^@ NM_000557.4(GDF5):c.1468T>C (p.Tyr490His) http://identifiers.org/clinvar/288914 ^@ NM_033056.3(PCDH15):c.4320G>A (p.Pro1440=) http://identifiers.org/clinvar/288915 ^@ NM_001145308.4(LRTOMT):c.803A>G (p.His268Arg) http://identifiers.org/clinvar/288916 ^@ NM_001038603.2(MARVELD2):c.389T>A (p.Leu130His) http://identifiers.org/clinvar/288917 ^@ NM_206933.2(USH2A):c.5619C>T (p.Val1873=) http://identifiers.org/clinvar/288918 ^@ NM_001199799.1(ILDR1):c.720G>C (p.Trp240Cys) http://identifiers.org/clinvar/288919 ^@ NM_001039213.3(CEACAM16):c.589G>A (p.Gly197Ser) http://identifiers.org/clinvar/288920 ^@ NM_194248.2(OTOF):c.366C>T (p.Asp122=) http://identifiers.org/clinvar/288921 ^@ NM_144612.6(LOXHD1):c.4972C>T (p.Arg1658Cys) http://identifiers.org/clinvar/288922 ^@ NM_015404.3(WHRN):c.1075G>A (p.Val359Ile) http://identifiers.org/clinvar/288923 ^@ NM_004006.2(DMD):c.4483C>T (p.Gln1495Ter) http://identifiers.org/clinvar/288924 ^@ NM_004369.3(COL6A3):c.6289C>T (p.Arg2097Trp) http://identifiers.org/clinvar/288925 ^@ NM_004369.3(COL6A3):c.7976A>G (p.Gln2659Arg) http://identifiers.org/clinvar/288926 ^@ NM_001243766.1(POMGNT1):c.172A>G (p.Ile58Val) http://identifiers.org/clinvar/288927 ^@ NM_033071.3(SYNE1):c.18382G>C (p.Glu6128Gln) http://identifiers.org/clinvar/288928 ^@ NM_004006.2(DMD):c.7919C>G (p.Ala2640Gly) http://identifiers.org/clinvar/288929 ^@ NM_001849.3(COL6A2):c.1017C>T (p.Ile339=) http://identifiers.org/clinvar/288930 ^@ NM_007171.3(POMT1):c.698A>G (p.Asn233Ser) http://identifiers.org/clinvar/288931 ^@ NM_005422.2(TECTA):c.4055G>A (p.Cys1352Tyr) http://identifiers.org/clinvar/288932 ^@ NM_000325.5(PITX2):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/288933 ^@ NM_006005.3(WFS1):c.1947C>T (p.Phe649=) http://identifiers.org/clinvar/288934 ^@ NM_001042702.3(DFNB59):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/288935 ^@ NM_153676.3(USH1C):c.1942G>A (p.Glu648Lys) http://identifiers.org/clinvar/288936 ^@ NM_144672.3(OTOA):c.1090G>A (p.Ala364Thr) http://identifiers.org/clinvar/288937 ^@ NM_144612.6(LOXHD1):c.231C>T (p.Leu77=) http://identifiers.org/clinvar/288938 ^@ NM_001128228.2(TPRN):c.691C>T (p.Arg231Trp) http://identifiers.org/clinvar/288939 ^@ NM_020436.4(SALL4):c.1005T>C (p.Leu335=) http://identifiers.org/clinvar/288940 ^@ NM_004369.3(COL6A3):c.4257C>G (p.Leu1419=) http://identifiers.org/clinvar/288941 ^@ NM_001130987.1(DYSF):c.4015G>T (p.Val1339Phe) http://identifiers.org/clinvar/288942 ^@ NM_033071.3(SYNE1):c.22925G>A (p.Arg7642His) http://identifiers.org/clinvar/288943 ^@ NM_001848.2(COL6A1):c.74C>A (p.Thr25Asn) http://identifiers.org/clinvar/288944 ^@ NM_004369.3(COL6A3):c.8236G>A (p.Glu2746Lys) http://identifiers.org/clinvar/288945 ^@ NM_213599.2(ANO5):c.2414+3G>A http://identifiers.org/clinvar/288946 ^@ NM_182961.3(SYNE1):c.18573+3G>A http://identifiers.org/clinvar/288947 ^@ NM_004006.2(DMD):c.1482+7G>T http://identifiers.org/clinvar/288948 ^@ NM_017617.4(NOTCH1):c.3231C>G (p.Thr1077=) http://identifiers.org/clinvar/288949 ^@ NM_018699.3(PRDM5):c.1605C>T (p.His535=) http://identifiers.org/clinvar/288950 ^@ NM_033071.3(SYNE1):c.22344A>G (p.Gln7448=) http://identifiers.org/clinvar/288951 ^@ NM_033071.3(SYNE1):c.23495A>G (p.His7832Arg) http://identifiers.org/clinvar/288952 ^@ NM_000070.2(CAPN3):c.372A>T (p.Gly124=) http://identifiers.org/clinvar/288953 ^@ NM_033071.3(SYNE1):c.18449C>T (p.Thr6150Ile) http://identifiers.org/clinvar/288954 ^@ NM_005572.3(LMNA):c.591G>A (p.Leu197=) http://identifiers.org/clinvar/288955 ^@ NM_182961.3(SYNE1):c.16710+8T>C http://identifiers.org/clinvar/288956 ^@ NM_080629.2(COL11A1):c.1395G>A (p.Met465Ile) http://identifiers.org/clinvar/288957 ^@ NM_001127464.2(ZNF469):c.4472C>T (p.Ser1491Leu) http://identifiers.org/clinvar/288958 ^@ NM_001267550.2(TTN):c.60175G>T (p.Gly20059Cys) http://identifiers.org/clinvar/288959 ^@ NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) http://identifiers.org/clinvar/288960 ^@ NM_001005361.2(DNM2):c.235+10G>A http://identifiers.org/clinvar/288961 ^@ NM_020533.2(MCOLN1):c.783G>A (p.Thr261=) http://identifiers.org/clinvar/288962 ^@ NM_032409.2(PINK1):c.1251+10G>A http://identifiers.org/clinvar/288963 ^@ NM_000156.5(GAMT):c.189G>C (p.Arg63=) http://identifiers.org/clinvar/288964 ^@ NM_022089.3(ATP13A2):c.846C>T (p.Ser282=) http://identifiers.org/clinvar/288965 ^@ NM_001083614.1(EARS2):c.1033C>G (p.Leu345Val) http://identifiers.org/clinvar/288966 ^@ NM_003482.3(KMT2D):c.16522-4T>G http://identifiers.org/clinvar/288967 ^@ NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) http://identifiers.org/clinvar/288968 ^@ NM_014140.3(SMARCAL1):c.2745T>C (p.Ser915=) http://identifiers.org/clinvar/288969 ^@ NM_003673.3(TCAP):c.313G>A (p.Glu105Lys) http://identifiers.org/clinvar/288970 ^@ NM_024301.4(FKRP):c.54T>A (p.Leu18=) http://identifiers.org/clinvar/288971 ^@ NM_000070.2(CAPN3):c.2440-1G>A http://identifiers.org/clinvar/288972 ^@ NM_000152.4(GAA):c.1387C>T (p.Arg463Trp) http://identifiers.org/clinvar/288973 ^@ NM_004369.3(COL6A3):c.898_900delTCC (p.Ser300del) http://identifiers.org/clinvar/288974 ^@ NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) http://identifiers.org/clinvar/288975 ^@ NM_033071.3(SYNE1):c.11887G>A (p.Glu3963Lys) http://identifiers.org/clinvar/288976 ^@ NM_003494.3(DYSF):c.2516C>T (p.Pro839Leu) http://identifiers.org/clinvar/288977 ^@ NM_033071.3(SYNE1):c.23063G>C (p.Arg7688Thr) http://identifiers.org/clinvar/288978 ^@ NM_058246.3(DNAJB6):c.-7G>A http://identifiers.org/clinvar/288979 ^@ NM_153240.4(NPHP3):c.1183T>G (p.Phe395Val) http://identifiers.org/clinvar/288980 ^@ NM_000780.3(CYP7A1):c.490G>A (p.Ala164Thr) http://identifiers.org/clinvar/288981 ^@ NM_000287.3(PEX6):c.1405C>T (p.Arg469Trp) http://identifiers.org/clinvar/288982 ^@ NM_003742.2(ABCB11):c.1752G>T (p.Met584Ile) http://identifiers.org/clinvar/288983 ^@ NM_000392.4(ABCC2):c.4494C>G (p.Ile1498Met) http://identifiers.org/clinvar/288984 ^@ NM_001079867.1(PEX2):c.19A>C (p.Asn7His) http://identifiers.org/clinvar/288985 ^@ NM_004820.4(CYP7B1):c.125G>A (p.Arg42Lys) http://identifiers.org/clinvar/288986 ^@ NM_000528.3(MAN2B1):c.1796G>T (p.Arg599Ile) http://identifiers.org/clinvar/288987 ^@ NM_005413.3(SIX3):c.180C>T (p.Gly60=) http://identifiers.org/clinvar/288988 ^@ NM_006922.3(SCN3A):c.5411C>T (p.Ala1804Val) http://identifiers.org/clinvar/288989 ^@ NM_032119.3(ADGRV1):c.5192C>T (p.Thr1731Ile) http://identifiers.org/clinvar/288990 ^@ NM_001143979.1(NDE1):c.387-5G>A http://identifiers.org/clinvar/288991 ^@ NM_000744.6(CHRNA4):c.44T>C (p.Leu15Pro) http://identifiers.org/clinvar/288992 ^@ NM_005045.3(RELN):c.1482A>T (p.Ile494=) http://identifiers.org/clinvar/288993 ^@ NM_005045.3(RELN):c.9086A>G (p.Asn3029Ser) http://identifiers.org/clinvar/288994 ^@ NM_020822.2(KCNT1):c.285C>T (p.Asn95=) http://identifiers.org/clinvar/288995 ^@ NM_005857.4(ZMPSTE24):c.818delA (p.Lys273Argfs) http://identifiers.org/clinvar/288996 ^@ NM_032119.3(ADGRV1):c.8401G>A (p.Gly2801Arg) http://identifiers.org/clinvar/288997 ^@ NM_032119.3(ADGRV1):c.17108G>A (p.Arg5703His) http://identifiers.org/clinvar/288998 ^@ NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) http://identifiers.org/clinvar/288999 ^@ NM_201380.3(PLEC):c.13882A>G (p.Thr4628Ala) http://identifiers.org/clinvar/289000 ^@ NM_170708.3(LMNA):c.263C>T (p.Ala88Val) http://identifiers.org/clinvar/289001 ^@ NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) http://identifiers.org/clinvar/289002 ^@ NM_014875.2(KIF14):c.2659C>T (p.Arg887Ter) http://identifiers.org/clinvar/289003 ^@ NM_024790.6(CSPP1):c.1180G>T (p.Glu394Ter) http://identifiers.org/clinvar/289004 ^@ NM_000083.2(CLCN1):c.568G>A (p.Gly190Arg) http://identifiers.org/clinvar/289005 ^@ NM_000083.2(CLCN1):c.1392C>T (p.Phe464=) http://identifiers.org/clinvar/289006 ^@ NM_002427.3(MMP13):c.1251G>A (p.Pro417=) http://identifiers.org/clinvar/289007 ^@ NM_000083.2(CLCN1):c.1401+17T>C http://identifiers.org/clinvar/289008 ^@ NM_000192.3(TBX5):c.242+4A>G http://identifiers.org/clinvar/289009 ^@ NM_006486.2(FBLN1):c.1074C>T (p.Asp358=) http://identifiers.org/clinvar/289010 ^@ NM_016239.3(MYO15A):c.1323G>A (p.Ala441=) http://identifiers.org/clinvar/289011 ^@ NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) http://identifiers.org/clinvar/289012 ^@ NM_001039141.2(TRIOBP):c.2811C>T (p.Ile937=) http://identifiers.org/clinvar/289013 ^@ NM_206933.2(USH2A):c.3086delG (p.Gly1029Alafs) http://identifiers.org/clinvar/289014 ^@ NM_206933.2(USH2A):c.8552A>C (p.Asn2851Thr) http://identifiers.org/clinvar/289015 ^@ NM_015404.3(WHRN):c.933A>C (p.Pro311=) http://identifiers.org/clinvar/289016 ^@ NM_024009.2(GJB3):c.499G>A (p.Val167Met) http://identifiers.org/clinvar/289017 ^@ NM_006005.3(WFS1):c.114C>T (p.Ser38=) http://identifiers.org/clinvar/289018 ^@ NM_014929.3(FASTKD2):c.1353A>G (p.Leu451=) http://identifiers.org/clinvar/289019 ^@ NM_004544.3(NDUFA10):c.650G>A (p.Arg217Gln) http://identifiers.org/clinvar/289020 ^@ NM_004369.3(COL6A3):c.8406C>T (p.Thr2802=) http://identifiers.org/clinvar/289021 ^@ NM_000751.2(CHRND):c.654C>G (p.Ala218=) http://identifiers.org/clinvar/289022 ^@ NM_001271208.1(NEB):c.7421A>G (p.Asn2474Ser) http://identifiers.org/clinvar/289023 ^@ NM_001100.3(ACTA1):c.715G>A (p.Glu239Lys) http://identifiers.org/clinvar/289024 ^@ NM_005199.4(CHRNG):c.1091C>T (p.Pro364Leu) http://identifiers.org/clinvar/289025 ^@ NM_000257.3(MYH7):c.4689G>A (p.Leu1563=) http://identifiers.org/clinvar/289026 ^@ NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=) http://identifiers.org/clinvar/289027 ^@ NM_001003722.1(GLE1):c.1393T>A (p.Ser465Thr) http://identifiers.org/clinvar/289028 ^@ NM_153638.3(PANK2):c.31G>A (p.Val11Ile) http://identifiers.org/clinvar/289029 ^@ NM_022445.3(TPK1):c.151C>A (p.Arg51Ser) http://identifiers.org/clinvar/289030 ^@ NM_001081.3(CUBN):c.1450A>G (p.Ser484Gly) http://identifiers.org/clinvar/289031 ^@ NM_001081.3(CUBN):c.9236+8A>G http://identifiers.org/clinvar/289032 ^@ NM_000271.4(NPC1):c.1618C>T (p.Pro540Ser) http://identifiers.org/clinvar/289033 ^@ NM_000392.4(ABCC2):c.3690A>C (p.Arg1230Ser) http://identifiers.org/clinvar/289034 ^@ NM_000214.2(JAG1):c.3651C>T (p.Ile1217=) http://identifiers.org/clinvar/289035 ^@ NM_015102.4(NPHP4):c.2939C>T (p.Thr980Met) http://identifiers.org/clinvar/289036 ^@ NM_012254.2(SLC27A5):c.464C>T (p.Ala155Val) http://identifiers.org/clinvar/289037 ^@ NM_000458.3(HNF1B):c.1414G>A (p.Val472Ile) http://identifiers.org/clinvar/289038 ^@ NM_005603.4(ATP8B1):c.37G>A (p.Glu13Lys) http://identifiers.org/clinvar/289039 ^@ NM_015102.4(NPHP4):c.263G>A (p.Arg88Lys) http://identifiers.org/clinvar/289040 ^@ NM_001173990.2(TMEM216):c.277G>A (p.Val93Met) http://identifiers.org/clinvar/289041 ^@ NM_004273.4(CHST3):c.*66G>T http://identifiers.org/clinvar/289042 ^@ NM_001146289.1(P3H1):c.1529A>G (p.Asn510Ser) http://identifiers.org/clinvar/289043 ^@ NM_007171.3(POMT1):c.1195G>A (p.Asp399Asn) http://identifiers.org/clinvar/289044 ^@ NM_004369.3(COL6A3):c.6640G>A (p.Gly2214Ser) http://identifiers.org/clinvar/289045 ^@ NM_000231.2(SGCG):c.233T>C (p.Leu78Pro) http://identifiers.org/clinvar/289046 ^@ NM_001849.3(COL6A2):c.596A>G (p.Gln199Arg) http://identifiers.org/clinvar/289047 ^@ NM_001848.2(COL6A1):c.2983G>A (p.Asp995Asn) http://identifiers.org/clinvar/289048 ^@ NM_213599.2(ANO5):c.656A>G (p.Tyr219Cys) http://identifiers.org/clinvar/289049 ^@ NM_182961.3(SYNE1):c.20449C>T (p.Arg6817Trp) http://identifiers.org/clinvar/289050 ^@ NM_012210.3(TRIM32):c.1786C>T (p.Arg596Cys) http://identifiers.org/clinvar/289051 ^@ NM_058246.3(DNAJB6):c.513C>A (p.Gly171=) http://identifiers.org/clinvar/289052 ^@ NM_000232.4(SGCB):c.20C>A (p.Ala7Glu) http://identifiers.org/clinvar/289053 ^@ NM_013382.5(POMT2):c.1306C>T (p.His436Tyr) http://identifiers.org/clinvar/289054 ^@ NM_001128227.2(GNE):c.1163+7A>G http://identifiers.org/clinvar/289055 ^@ NM_004006.2(DMD):c.9929A>G (p.Gln3310Arg) http://identifiers.org/clinvar/289056 ^@ NM_004560.3(ROR2):c.1736A>G (p.Asp579Gly) http://identifiers.org/clinvar/289057 ^@ NM_002834.4(PTPN11):c.1327C>T (p.His443Tyr) http://identifiers.org/clinvar/289058 ^@ NM_181332.2(NLGN4X):c.1216C>A (p.Leu406Ile) http://identifiers.org/clinvar/289059 ^@ NM_004380.2(CREBBP):c.2355_2366delCCAGGCGCCCGC (p.Ala787_Gln790del) http://identifiers.org/clinvar/289060 ^@ NM_014141.5(CNTNAP2):c.48G>T (p.Trp16Cys) http://identifiers.org/clinvar/289061 ^@ NM_001298.2(CNGA3):c.1712T>C (p.Ile571Thr) http://identifiers.org/clinvar/289062 ^@ NM_000195.4(HPS1):c.1915G>A (p.Gly639Ser) http://identifiers.org/clinvar/289063 ^@ NM_002181.3(IHH):c.949G>A (p.Val317Met) http://identifiers.org/clinvar/289064 ^@ NM_001017995.2(SH3PXD2B):c.1602G>A (p.Gly534=) http://identifiers.org/clinvar/289065 ^@ NM_015311.2(OBSL1):c.380C>T (p.Ala127Val) http://identifiers.org/clinvar/289066 ^@ NM_001110556.1(FLNA):c.1242C>T (p.Gly414=) http://identifiers.org/clinvar/289067 ^@ NM_001017995.2(SH3PXD2B):c.2395_2397delCTC (p.Leu799del) http://identifiers.org/clinvar/289068 ^@ NM_005529.6(HSPG2):c.8545G>T (p.Val2849Leu) http://identifiers.org/clinvar/289069 ^@ NM_153819.1(RASGRP2):c.522+9C>T http://identifiers.org/clinvar/289070 ^@ NM_002546.3(TNFRSF11B):c.69G>A (p.Thr23=) http://identifiers.org/clinvar/289071 ^@ NM_000168.5(GLI3):c.1959G>A (p.Pro653=) http://identifiers.org/clinvar/289072 ^@ NM_032119.3(ADGRV1):c.6568A>G (p.Ile2190Val) http://identifiers.org/clinvar/289073 ^@ NM_033071.3(SYNE1):c.4657A>G (p.Thr1553Ala) http://identifiers.org/clinvar/289074 ^@ NM_001458.4(FLNC):c.2130C>T (p.Asp710=) http://identifiers.org/clinvar/289075 ^@ NM_001122955.3(BSCL2):c.968G>T (p.Trp323Leu) http://identifiers.org/clinvar/289076 ^@ NM_001849.3(COL6A2):c.954G>A (p.Lys318=) http://identifiers.org/clinvar/289077 ^@ NM_001267550.2(TTN):c.90434T>C (p.Ile30145Thr) http://identifiers.org/clinvar/289078 ^@ NM_001267550.2(TTN):c.28200C>T (p.Asp9400=) http://identifiers.org/clinvar/289079 ^@ NM_001267550.2(TTN):c.21069A>G (p.Gln7023=) http://identifiers.org/clinvar/289080 ^@ NM_182961.3(SYNE1):c.12393C>A (p.Gly4131=) http://identifiers.org/clinvar/289081 ^@ NM_001927.3(DES):c.708C>T (p.Ile236=) http://identifiers.org/clinvar/289082 ^@ NM_000070.2(CAPN3):c.2279dupA (p.Asn760Lysfs) http://identifiers.org/clinvar/289083 ^@ NM_033071.3(SYNE1):c.12316-9A>G http://identifiers.org/clinvar/289084 ^@ NM_022437.2(ABCG8):c.1941C>G (p.Val647=) http://identifiers.org/clinvar/289085 ^@ NM_000053.3(ATP7B):c.2191G>A (p.Val731Met) http://identifiers.org/clinvar/289086 ^@ NM_033071.3(SYNE1):c.22634G>A (p.Arg7545Gln) http://identifiers.org/clinvar/289087 ^@ NM_001159702.2(FHL1):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/289088 ^@ NM_015295.2(SMCHD1):c.3514+7A>G http://identifiers.org/clinvar/289089 ^@ NM_033071.3(SYNE1):c.2461T>C (p.Leu821=) http://identifiers.org/clinvar/289090 ^@ NM_006731.2(FKTN):c.293C>T (p.Thr98Ile) http://identifiers.org/clinvar/289091 ^@ NM_033071.3(SYNE1):c.2307A>G (p.Gln769=) http://identifiers.org/clinvar/289092 ^@ NM_000070.2(CAPN3):c.950T>C (p.Ile317Thr) http://identifiers.org/clinvar/289093 ^@ NM_024301.4(FKRP):c.1269_1270insT (p.Asn424Terfs) http://identifiers.org/clinvar/289094 ^@ NM_007171.3(POMT1):c.2209A>C (p.Lys737Gln) http://identifiers.org/clinvar/289095 ^@ NM_001101426.3(ISPD):c.789+9G>A http://identifiers.org/clinvar/289096 ^@ NM_024301.4(FKRP):c.1267delC (p.Arg423Alafs) http://identifiers.org/clinvar/289097 ^@ NM_004369.3(COL6A3):c.5645C>T (p.Ser1882Leu) http://identifiers.org/clinvar/289098 ^@ NM_213599.2(ANO5):c.1450C>T (p.Arg484Cys) http://identifiers.org/clinvar/289099 ^@ NM_000151.3(G6PC):c.562+10G>A http://identifiers.org/clinvar/289100 ^@ NM_001267550.2(TTN):c.78197dupA (p.Tyr26066Terfs) http://identifiers.org/clinvar/289101 ^@ NM_001267550.2(TTN):c.60993A>G (p.Arg20331=) http://identifiers.org/clinvar/289102 ^@ NM_000232.4(SGCB):c.768C>T (p.Ile256=) http://identifiers.org/clinvar/289103 ^@ NM_001267550.2(TTN):c.93268G>A (p.Val31090Ile) http://identifiers.org/clinvar/289104 ^@ NM_213599.2(ANO5):c.1934G>A (p.Arg645Gln) http://identifiers.org/clinvar/289105 ^@ NM_001848.2(COL6A1):c.739-10C>G http://identifiers.org/clinvar/289107 ^@ NM_000407.4(GP1BB):c.338A>T (p.Tyr113Phe) http://identifiers.org/clinvar/289108 ^@ NM_000199.3(SGSH):c.816C>T (p.Ser272=) http://identifiers.org/clinvar/289109 ^@ NM_000030.2(AGXT):c.524+6C>A http://identifiers.org/clinvar/289110 ^@ NM_000370.3(TTPA):c.814A>C (p.Ser272Arg) http://identifiers.org/clinvar/289111 ^@ NM_000060.4(BTD):c.1324G>A (p.Val442Ile) http://identifiers.org/clinvar/289112 ^@ NM_182961.3(SYNE1):c.4032A>G (p.Arg1344=) http://identifiers.org/clinvar/289113 ^@ NM_004369.3(COL6A3):c.6355-1G>A http://identifiers.org/clinvar/289114 ^@ NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) http://identifiers.org/clinvar/289115 ^@ NM_004006.2(DMD):c.152T>C (p.Leu51Pro) http://identifiers.org/clinvar/289116 ^@ NM_033071.3(SYNE1):c.25408C>T (p.Arg8470Trp) http://identifiers.org/clinvar/289117 ^@ NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) http://identifiers.org/clinvar/289118 ^@ NM_013382.5(POMT2):c.1593G>A (p.Leu531=) http://identifiers.org/clinvar/289119 ^@ NM_001130987.1(DYSF):c.3297C>A (p.Leu1099=) http://identifiers.org/clinvar/289120 ^@ NM_001927.3(DES):c.184G>A (p.Gly62Arg) http://identifiers.org/clinvar/289121 ^@ NM_004369.3(COL6A3):c.861C>T (p.Ser287=) http://identifiers.org/clinvar/289122 ^@ NM_024408.3(NOTCH2):c.5781+10A>C http://identifiers.org/clinvar/289123 ^@ NM_003742.2(ABCB11):c.1636C>A (p.Gln546Lys) http://identifiers.org/clinvar/289124 ^@ NM_012254.2(SLC27A5):c.1315A>G (p.Met439Val) http://identifiers.org/clinvar/289125 ^@ NM_018849.2(ABCB4):c.1858_1860delAAG (p.Lys620del) http://identifiers.org/clinvar/289126 ^@ NM_033071.3(SYNE1):c.1653+4A>G http://identifiers.org/clinvar/289127 ^@ NM_170707.3(LMNA):c.1867A>G (p.Thr623Ala) http://identifiers.org/clinvar/289128 ^@ NM_000232.4(SGCB):c.67C>T (p.Arg23Cys) http://identifiers.org/clinvar/289129 ^@ NM_015295.2(SMCHD1):c.4598T>C (p.Leu1533Ser) http://identifiers.org/clinvar/289130 ^@ NM_004006.2(DMD):c.1015G>A (p.Val339Ile) http://identifiers.org/clinvar/289131 ^@ NM_004369.3(COL6A3):c.3419C>T (p.Thr1140Met) http://identifiers.org/clinvar/289132 ^@ NM_182961.3(SYNE1):c.5929G>A (p.Ala1977Thr) http://identifiers.org/clinvar/289133 ^@ NM_017739.3(POMGNT1):c.1139T>C (p.Phe380Ser) http://identifiers.org/clinvar/289134 ^@ NM_001079802.1(FKTN):c.301T>C (p.Cys101Arg) http://identifiers.org/clinvar/289135 ^@ NM_000295.4(SERPINA1):c.1177C>T (p.Pro393Ser) http://identifiers.org/clinvar/289136 ^@ NM_001267550.2(TTN):c.56294delC (p.Thr18765Lysfs) http://identifiers.org/clinvar/289137 ^@ NM_000478.5(ALPL):c.612C>T (p.Ile204=) http://identifiers.org/clinvar/289138 ^@ NM_001849.3(COL6A2):c.2702_2722del21 (p.Ile901_Thr907del) http://identifiers.org/clinvar/289139 ^@ NM_001849.3(COL6A2):c.2243G>A (p.Cys748Tyr) http://identifiers.org/clinvar/289140 ^@ NM_003494.3(DYSF):c.703G>A (p.Val235Met) http://identifiers.org/clinvar/289141 ^@ NM_133378.4(TTN):c.49167C>T (p.Ser16389=) http://identifiers.org/clinvar/289142 ^@ NM_003494.3(DYSF):c.429G>A (p.Pro143=) http://identifiers.org/clinvar/289143 ^@ NM_001130987.1(DYSF):c.3049T>C (p.Trp1017Arg) http://identifiers.org/clinvar/289144 ^@ NM_007171.3(POMT1):c.1517C>T (p.Thr506Met) http://identifiers.org/clinvar/289145 ^@ NM_182961.3(SYNE1):c.14991G>T (p.Arg4997Ser) http://identifiers.org/clinvar/289146 ^@ NM_001849.3(COL6A2):c.229T>C (p.Phe77Leu) http://identifiers.org/clinvar/289147 ^@ NM_001848.2(COL6A1):c.357G>A (p.Ala119=) http://identifiers.org/clinvar/289148 ^@ NM_001128227.2(GNE):c.2213T>C (p.Leu738Pro) http://identifiers.org/clinvar/289150 ^@ NM_000199.3(SGSH):c.1135G>A (p.Val379Met) http://identifiers.org/clinvar/289151 ^@ NM_003640.4(IKBKAP):c.2189G>A (p.Arg730Gln) http://identifiers.org/clinvar/289152 ^@ NM_000303.2(PMM2):c.657G>C (p.Glu219Asp) http://identifiers.org/clinvar/289153 ^@ NM_001360.2(DHCR7):c.927C>A (p.Gly309=) http://identifiers.org/clinvar/289154 ^@ NM_000018.3(ACADVL):c.713G>T (p.Gly238Val) http://identifiers.org/clinvar/289156 ^@ NM_001849.3(COL6A2):c.2982C>T (p.Ala994=) http://identifiers.org/clinvar/289157 ^@ NM_033071.3(SYNE1):c.18739G>A (p.Glu6247Lys) http://identifiers.org/clinvar/289158 ^@ NM_213599.2(ANO5):c.1692G>C (p.Gln564His) http://identifiers.org/clinvar/289159 ^@ NM_001849.3(COL6A2):c.493G>A (p.Val165Ile) http://identifiers.org/clinvar/289160 ^@ NM_000232.4(SGCB):c.14_15insAGCGGC (p.Ala9_Glu10insAlaAla) http://identifiers.org/clinvar/289161 ^@ NM_000070.2(CAPN3):c.1656C>T (p.Ser552=) http://identifiers.org/clinvar/289162 ^@ NM_000070.2(CAPN3):c.844A>T (p.Asn282Tyr) http://identifiers.org/clinvar/289163 ^@ NM_213599.2(ANO5):c.2470delC (p.Gln824Asnfs) http://identifiers.org/clinvar/289164 ^@ NM_033071.3(SYNE1):c.9114A>T (p.Arg3038Ser) http://identifiers.org/clinvar/289165 ^@ NM_033071.3(SYNE1):c.20630A>G (p.Glu6877Gly) http://identifiers.org/clinvar/289166 ^@ NM_012210.3(TRIM32):c.1569_1575delTGAGGGC (p.Glu524Profs) http://identifiers.org/clinvar/289167 ^@ NM_004006.2(DMD):c.5530C>A (p.Arg1844=) http://identifiers.org/clinvar/289168 ^@ NM_012210.3(TRIM32):c.1124T>G (p.Val375Gly) http://identifiers.org/clinvar/289169 ^@ NM_033071.3(SYNE1):c.1504A>G (p.Thr502Ala) http://identifiers.org/clinvar/289170 ^@ NM_182961.3(SYNE1):c.24029G>A (p.Arg8010His) http://identifiers.org/clinvar/289171 ^@ NM_000023.3(SGCA):c.322_325dupTACA (p.Asn109Ilefs) http://identifiers.org/clinvar/289172 ^@ NM_004369.3(COL6A3):c.34G>T (p.Val12Phe) http://identifiers.org/clinvar/289173 ^@ NM_182961.3(SYNE1):c.23791-6delC http://identifiers.org/clinvar/289174 ^@ NM_000089.3(COL1A2):c.3793T>C (p.Ser1265Pro) http://identifiers.org/clinvar/289175 ^@ NM_000434.3(NEU1):c.263G>C (p.Gly88Ala) http://identifiers.org/clinvar/289176 ^@ NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) http://identifiers.org/clinvar/289177 ^@ NM_022455.4(NSD1):c.2309G>T (p.Gly770Val) http://identifiers.org/clinvar/289178 ^@ NM_005270.4(GLI2):c.2466C>T (p.Arg822=) http://identifiers.org/clinvar/289179 ^@ NM_000460.3(THPO):c.639T>A (p.Thr213=) http://identifiers.org/clinvar/289180 ^@ NM_005006.6(NDUFS1):c.1061T>A (p.Leu354His) http://identifiers.org/clinvar/289181 ^@ NM_133259.3(LRPPRC):c.3040-4A>G http://identifiers.org/clinvar/289182 ^@ NM_004562.2(PRKN):c.48G>A (p.Glu16=) http://identifiers.org/clinvar/289183 ^@ NM_004369.3(COL6A3):c.4603C>T (p.Arg1535Cys) http://identifiers.org/clinvar/289184 ^@ NC_000002.11:g.150432125_150432217del56 http://identifiers.org/clinvar/289185 ^@ NM_000214.2(JAG1):c.2329C>T (p.Pro777Ser) http://identifiers.org/clinvar/289186 ^@ NM_005603.4(ATP8B1):c.246A>G (p.Thr82=) http://identifiers.org/clinvar/289187 ^@ NM_000214.2(JAG1):c.390dupG (p.Ser131Valfs) http://identifiers.org/clinvar/289188 ^@ NM_022437.2(ABCG8):c.1416C>T (p.Tyr472=) http://identifiers.org/clinvar/289189 ^@ NM_005989.3(AKR1D1):c.378+6T>G http://identifiers.org/clinvar/289190 ^@ NM_017929.5(PEX26):c.497G>A (p.Arg166Gln) http://identifiers.org/clinvar/289191 ^@ NM_153818.1(PEX10):c.872C>T (p.Pro291Leu) http://identifiers.org/clinvar/289192 ^@ NM_002618.3(PEX13):c.142C>T (p.Leu48Phe) http://identifiers.org/clinvar/289193 ^@ NM_024408.3(NOTCH2):c.4394A>G (p.Asn1465Ser) http://identifiers.org/clinvar/289194 ^@ NM_002437.4(MPV17):c.461G>C (p.Arg154Thr) http://identifiers.org/clinvar/289195 ^@ NM_002857.3(PEX19):c.523A>G (p.Met175Val) http://identifiers.org/clinvar/289196 ^@ NM_138694.3(PKHD1):c.2607C>T (p.Asn869=) http://identifiers.org/clinvar/289197 ^@ NM_000466.2(PEX1):c.1975G>T (p.Val659Phe) http://identifiers.org/clinvar/289198 ^@ NM_001080522.2(CC2D2A):c.1779_1781delGAA (p.Lys594del) http://identifiers.org/clinvar/289199 ^@ NM_021101.4(CLDN1):c.195A>G (p.Lys65=) http://identifiers.org/clinvar/289200 ^@ NM_014425.4(INVS):c.2834T>A (p.Leu945His) http://identifiers.org/clinvar/289201 ^@ NM_018668.4(VPS33B):c.944G>A (p.Arg315Gln) http://identifiers.org/clinvar/289202 ^@ NM_017837.3(PIGV):c.348_349delGAinsAG (p.Ile117Val) http://identifiers.org/clinvar/289203 ^@ NM_002225.3(IVD):c.465G>A (p.Lys155=) http://identifiers.org/clinvar/289205 ^@ NM_000521.3(HEXB):c.833C>T (p.Ala278Val) http://identifiers.org/clinvar/289206 ^@ NM_005045.3(RELN):c.3288A>G (p.Gln1096=) http://identifiers.org/clinvar/289207 ^@ NM_000074.2(CD40LG):c.594C>T (p.Pro198=) http://identifiers.org/clinvar/289208 ^@ NM_004606.4(TAF1):c.32C>T (p.Thr11Ile) http://identifiers.org/clinvar/289210 ^@ NM_001006657.1(WDR35):c.1501delC (p.Gln501Lysfs) http://identifiers.org/clinvar/289211 ^@ NM_000208.3(INSR):c.41T>C (p.Leu14Pro) http://identifiers.org/clinvar/289212 ^@ NM_020812.3(DOCK6):c.4862T>C (p.Val1621Ala) http://identifiers.org/clinvar/289213 ^@ NM_001410.2(MEGF8):c.5380G>A (p.Gly1794Arg) http://identifiers.org/clinvar/289214 ^@ NM_000493.3(COL10A1):c.70C>T (p.Arg24Ter) http://identifiers.org/clinvar/289215 ^@ NM_020822.2(KCNT1):c.3690C>T (p.Arg1230=) http://identifiers.org/clinvar/289216 ^@ NM_006662.2(SRCAP):c.6576G>A (p.Glu2192=) http://identifiers.org/clinvar/289217 ^@ NM_022455.4(NSD1):c.3697C>T (p.Arg1233Trp) http://identifiers.org/clinvar/289218 ^@ NM_152564.4(VPS13B):c.2509A>T (p.Ser837Cys) http://identifiers.org/clinvar/289219 ^@ NM_000554.5(CRX):c.448delT (p.Ser150Glnfs) http://identifiers.org/clinvar/289220 ^@ NM_025114.3(CEP290):c.2089G>C (p.Ala697Pro) http://identifiers.org/clinvar/289221 ^@ NM_004560.3(ROR2):c.2445G>A (p.Pro815=) http://identifiers.org/clinvar/289222 ^@ NM_005529.6(HSPG2):c.13109C>G (p.Pro4370Arg) http://identifiers.org/clinvar/289223 ^@ NM_001851.4(COL9A1):c.1838G>A (p.Gly613Glu) http://identifiers.org/clinvar/289224 ^@ NM_147127.4(EVC2):c.530C>T (p.Ser177Leu) http://identifiers.org/clinvar/289225 ^@ NM_000168.5(GLI3):c.363C>T (p.His121=) http://identifiers.org/clinvar/289226 ^@ NM_014112.4(TRPS1):c.1607A>G (p.Tyr536Cys) http://identifiers.org/clinvar/289227 ^@ NM_213599.2(ANO5):c.2185G>A (p.Val729Ile) http://identifiers.org/clinvar/289228 ^@ NM_000088.3(COL1A1):c.3127G>A (p.Gly1043Arg) http://identifiers.org/clinvar/289229 ^@ NM_024408.3(NOTCH2):c.3670G>A (p.Glu1224Lys) http://identifiers.org/clinvar/289230 ^@ NM_002335.3(LRP5):c.3553G>A (p.Gly1185Arg) http://identifiers.org/clinvar/289232 ^@ NM_206933.2(USH2A):c.11585C>G (p.Thr3862Arg) http://identifiers.org/clinvar/289233 ^@ NM_001271208.1(NEB):c.2416-6G>T http://identifiers.org/clinvar/289234 ^@ NM_004006.2(DMD):c.10911G>A (p.Ser3637=) http://identifiers.org/clinvar/289235 ^@ NM_000036.2(AMPD1):c.1918T>C (p.Leu640=) http://identifiers.org/clinvar/289236 ^@ NM_005592.3(MUSK):c.1062G>A (p.Thr354=) http://identifiers.org/clinvar/289237 ^@ NM_016239.3(MYO15A):c.6764+2T>A http://identifiers.org/clinvar/289238 ^@ NM_001136194.1(FASTKD2):c.234T>G (p.Phe78Leu) http://identifiers.org/clinvar/289239 ^@ NM_001111125.2(IQSEC2):c.600G>A (p.Arg200=) http://identifiers.org/clinvar/289240 ^@ NM_002693.2(POLG):c.138_158del21 (p.Gln49_Gln55del) http://identifiers.org/clinvar/289241 ^@ NM_001079802.1(FKTN):c.911-8C>A http://identifiers.org/clinvar/289242 ^@ NM_001849.3(COL6A2):c.2244C>T (p.Cys748=) http://identifiers.org/clinvar/289243 ^@ NM_015295.2(SMCHD1):c.5020delA (p.Ile1674Tyrfs) http://identifiers.org/clinvar/289244 ^@ NM_001130987.1(DYSF):c.5768G>T (p.Cys1923Phe) http://identifiers.org/clinvar/289245 ^@ NM_001130987.1(DYSF):c.2864+5G>A http://identifiers.org/clinvar/289246 ^@ NM_000337.5(SGCD):c.357T>C (p.Thr119=) http://identifiers.org/clinvar/289247 ^@ NM_000070.2(CAPN3):c.1034C>G (p.Pro345Arg) http://identifiers.org/clinvar/289248 ^@ NM_000023.3(SGCA):c.1052G>A (p.Arg351His) http://identifiers.org/clinvar/289249 ^@ NM_213599.2(ANO5):c.19C>T (p.Leu7=) http://identifiers.org/clinvar/289250 ^@ NM_024301.4(FKRP):c.1141delG (p.Ala381Glnfs) http://identifiers.org/clinvar/289251 ^@ NM_024301.4(FKRP):c.885C>T (p.Arg295=) http://identifiers.org/clinvar/289252 ^@ NM_001029883.2(C2orf71):c.2506G>T (p.Glu836Ter) http://identifiers.org/clinvar/289253 ^@ NM_000214.2(JAG1):c.2122C>T (p.Gln708Ter) http://identifiers.org/clinvar/289254 ^@ NC_000002.11:g.169830232_169830305del56 http://identifiers.org/clinvar/289255 ^@ NM_005989.3(AKR1D1):c.558A>C (p.Lys186Asn) http://identifiers.org/clinvar/289256 ^@ NM_018849.2(ABCB4):c.911C>A (p.Ala304Asp) http://identifiers.org/clinvar/289257 ^@ NM_000271.4(NPC1):c.3229C>T (p.Arg1077Ter) http://identifiers.org/clinvar/289258 ^@ NM_000271.4(NPC1):c.2801G>T (p.Arg934Leu) http://identifiers.org/clinvar/289259 ^@ NM_153818.1(PEX10):c.446C>T (p.Thr149Met) http://identifiers.org/clinvar/289260 ^@ NM_012254.2(SLC27A5):c.1229G>A (p.Gly410Glu) http://identifiers.org/clinvar/289261 ^@ NM_000319.4(PEX5):c.547C>T (p.Arg183Cys) http://identifiers.org/clinvar/289262 ^@ NM_024809.4(TCTN2):c.964dupA (p.Thr322Asnfs) http://identifiers.org/clinvar/289263 ^@ NM_015384.4(NIPBL):c.1456A>G (p.Ile486Val) http://identifiers.org/clinvar/289264 ^@ NM_003482.3(KMT2D):c.1781C>T (p.Pro594Leu) http://identifiers.org/clinvar/289265 ^@ NM_001849.3(COL6A2):c.1053+2delT http://identifiers.org/clinvar/289266 ^@ NM_001849.3(COL6A2):c.1744G>A (p.Gly582Ser) http://identifiers.org/clinvar/289267 ^@ NM_000138.4(FBN1):c.6043G>A (p.Asp2015Asn) http://identifiers.org/clinvar/289268 ^@ NM_004560.3(ROR2):c.2489A>G (p.Tyr830Cys) http://identifiers.org/clinvar/289269 ^@ NM_020223.3(FAM20C):c.1228T>A (p.Ser410Thr) http://identifiers.org/clinvar/289270 ^@ NM_032119.3(ADGRV1):c.12008T>C (p.Ile4003Thr) http://identifiers.org/clinvar/289271 ^@ NM_018139.2(DNAAF2):c.1115G>A (p.Arg372Gln) http://identifiers.org/clinvar/289272 ^@ NM_013236.3(ATXN10):c.908C>T (p.Thr303Ile) http://identifiers.org/clinvar/289273 ^@ NM_005477.2(HCN4):c.2555C>T (p.Pro852Leu) http://identifiers.org/clinvar/289274 ^@ NM_020822.2(KCNT1):c.1077_1078delAG (p.Gly361Glnfs) http://identifiers.org/clinvar/289275 ^@ NM_006922.3(SCN3A):c.5825A>G (p.Gln1942Arg) http://identifiers.org/clinvar/289276 ^@ NM_003165.3(STXBP1):c.400_401delAA (p.Asn134Tyrfs) http://identifiers.org/clinvar/289277 ^@ NM_000742.3(CHRNA2):c.166A>T (p.Thr56Ser) http://identifiers.org/clinvar/289278 ^@ NM_000033.3(ABCD1):c.1912G>C (p.Asp638His) http://identifiers.org/clinvar/289279 ^@ NM_003865.2(HESX1):c.200G>C (p.Ser67Thr) http://identifiers.org/clinvar/289280 ^@ NM_001429.3(EP300):c.4347T>C (p.His1449=) http://identifiers.org/clinvar/289281 ^@ NM_004006.2(DMD):c.8967A>G (p.Lys2989=) http://identifiers.org/clinvar/289282 ^@ NM_001110556.1(FLNA):c.6993C>T (p.Asp2331=) http://identifiers.org/clinvar/289283 ^@ NM_001040142.1(SCN2A):c.3547C>G (p.Gln1183Glu) http://identifiers.org/clinvar/289284 ^@ NM_001008537.2(KIAA2022):c.133G>A (p.Ala45Thr) http://identifiers.org/clinvar/289285 ^@ NM_003491.3(NAA10):c.201G>C (p.Val67=) http://identifiers.org/clinvar/289286 ^@ NM_025074.6(FRAS1):c.4365G>C (p.Ala1455=) http://identifiers.org/clinvar/289287 ^@ NM_207361.5(FREM2):c.9071A>G (p.Asn3024Ser) http://identifiers.org/clinvar/289288 ^@ NM_001453.2(FOXC1):c.290dupA (p.Lys98Glufs) http://identifiers.org/clinvar/289289 ^@ NM_025074.6(FRAS1):c.806G>A (p.Arg269Gln) http://identifiers.org/clinvar/289290 ^@ NM_001845.5(COL4A1):c.3776C>G (p.Pro1259Arg) http://identifiers.org/clinvar/289291 ^@ NM_207361.5(FREM2):c.9337A>G (p.Thr3113Ala) http://identifiers.org/clinvar/289292 ^@ NM_144966.5(FREM1):c.3932T>C (p.Ile1311Thr) http://identifiers.org/clinvar/289293 ^@ NM_012186.2(FOXE3):c.929G>A (p.Gly310Asp) http://identifiers.org/clinvar/289294 ^@ NM_021150.3(GRIP1):c.3020C>G (p.Thr1007Ser) http://identifiers.org/clinvar/289295 ^@ NM_025074.6(FRAS1):c.4857A>G (p.Val1619=) http://identifiers.org/clinvar/289296 ^@ NM_172337.2(OTX2):c.149_175del27 (p.Leu50_Lys59delinsGln) http://identifiers.org/clinvar/289297 ^@ NM_006726.4(LRBA):c.2526T>C (p.Phe842=) http://identifiers.org/clinvar/289298 ^@ NM_002968.2(SALL1):c.1329T>A (p.Asp443Glu) http://identifiers.org/clinvar/289299 ^@ NM_018344.5(SLC29A3):c.631G>A (p.Val211Ile) http://identifiers.org/clinvar/289300 ^@ NM_016239.3(MYO15A):c.9518-10G>A http://identifiers.org/clinvar/289301 ^@ NM_005379.3(MYO1A):c.2422G>A (p.Ala808Thr) http://identifiers.org/clinvar/289303 ^@ NM_001888.4(CRYM):c.8G>T (p.Arg3Leu) http://identifiers.org/clinvar/289304 ^@ NM_017780.3(CHD7):c.2945A>G (p.Asn982Ser) http://identifiers.org/clinvar/289305 ^@ NM_005422.2(TECTA):c.972G>C (p.Val324=) http://identifiers.org/clinvar/289306 ^@ NM_080680.2(COL11A2):c.4482G>A (p.Pro1494=) http://identifiers.org/clinvar/289307 ^@ NM_006005.3(WFS1):c.1143G>A (p.Leu381=) http://identifiers.org/clinvar/289308 ^@ NM_144612.6(LOXHD1):c.4609T>C (p.Cys1537Arg) http://identifiers.org/clinvar/289309 ^@ NM_001849.3(COL6A2):c.1591G>A (p.Gly531Ser) http://identifiers.org/clinvar/289310 ^@ NM_000350.2(ABCA4):c.3056C>T (p.Thr1019Met) http://identifiers.org/clinvar/289311 ^@ NM_018418.4(SPATA7):c.1446C>T (p.Asn482=) http://identifiers.org/clinvar/289312 ^@ NM_000350.2(ABCA4):c.564delA (p.Glu189Serfs) http://identifiers.org/clinvar/289313 ^@ NM_001142800.1(EYS):c.9186_9187delCA (p.Asn3062Lysfs) http://identifiers.org/clinvar/289314 ^@ NM_006017.2(PROM1):c.868A>C (p.Ser290Arg) http://identifiers.org/clinvar/289315 ^@ NM_000440.2(PDE6A):c.1349T>C (p.Phe450Ser) http://identifiers.org/clinvar/289316 ^@ NM_004183.3(BEST1):c.495G>A (p.Pro165=) http://identifiers.org/clinvar/289317 ^@ NM_206933.2(USH2A):c.14832G>T (p.Leu4944Phe) http://identifiers.org/clinvar/289318 ^@ NM_000350.2(ABCA4):c.1932C>T (p.Asp644=) http://identifiers.org/clinvar/289319 ^@ NM_004183.3(BEST1):c.1104G>C (p.Leu368=) http://identifiers.org/clinvar/289320 ^@ NM_024649.4(BBS1):c.772G>C (p.Asp258His) http://identifiers.org/clinvar/289321 ^@ NM_001142564.1(CNGA1):c.1123T>C (p.Tyr375His) http://identifiers.org/clinvar/289322 ^@ NM_001844.4(COL2A1):c.2382delT (p.Gly795Alafs) http://identifiers.org/clinvar/289323 ^@ NM_001277115.1(DNAH11):c.4818-2A>G http://identifiers.org/clinvar/289324 ^@ NM_001277115.1(DNAH11):c.6727C>T (p.Arg2243Ter) http://identifiers.org/clinvar/289325 ^@ NM_000195.4(HPS1):c.700C>T (p.Leu234=) http://identifiers.org/clinvar/289326 ^@ NM_198253.2(TERT):c.150G>A (p.Leu50=) http://identifiers.org/clinvar/289327 ^@ NM_015102.4(NPHP4):c.2259C>T (p.Asp753=) http://identifiers.org/clinvar/289328 ^@ NM_024408.3(NOTCH2):c.1554C>T (p.Cys518=) http://identifiers.org/clinvar/289329 ^@ NM_001127701.1(SERPINA1):c.924C>T (p.Ala308=) http://identifiers.org/clinvar/289330 ^@ NM_138694.3(PKHD1):c.9868G>A (p.Asp3290Asn) http://identifiers.org/clinvar/289331 ^@ NM_001931.4(DLAT):c.165C>G (p.Val55=) http://identifiers.org/clinvar/289332 ^@ NM_032409.2(PINK1):c.858G>A (p.Pro286=) http://identifiers.org/clinvar/289333 ^@ NM_001081.3(CUBN):c.10641G>A (p.Arg3547=) http://identifiers.org/clinvar/289334 ^@ NM_003647.2(DGKE):c.1679A>G (p.Gln560Arg) http://identifiers.org/clinvar/289335 ^@ NM_016341.3(PLCE1):c.4452G>A (p.Ser1484=) http://identifiers.org/clinvar/289336 ^@ NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) http://identifiers.org/clinvar/289337 ^@ NM_213599.2(ANO5):c.1106G>A (p.Cys369Tyr) http://identifiers.org/clinvar/289338 ^@ NM_004369.3(COL6A3):c.2529C>T (p.Asp843=) http://identifiers.org/clinvar/289339 ^@ NM_182961.3(SYNE1):c.2154delT (p.Thr719Profs) http://identifiers.org/clinvar/289340 ^@ NM_033071.3(SYNE1):c.24958A>G (p.Thr8320Ala) http://identifiers.org/clinvar/289341 ^@ NM_001849.3(COL6A2):c.2233C>T (p.Arg745Trp) http://identifiers.org/clinvar/289342 ^@ NM_012210.3(TRIM32):c.292C>A (p.Leu98Ile) http://identifiers.org/clinvar/289343 ^@ NM_015295.2(SMCHD1):c.4827A>G (p.Leu1609=) http://identifiers.org/clinvar/289344 ^@ NM_007171.3(POMT1):c.1764+6C>T http://identifiers.org/clinvar/289345 ^@ NM_033071.3(SYNE1):c.17877C>T (p.Ser5959=) http://identifiers.org/clinvar/289346 ^@ NM_001101426.3(ISPD):c.1246C>T (p.Pro416Ser) http://identifiers.org/clinvar/289347 ^@ NM_182961.3(SYNE1):c.7283C>T (p.Ala2428Val) http://identifiers.org/clinvar/289348 ^@ NM_000232.4(SGCB):c.610T>C (p.Ser204Pro) http://identifiers.org/clinvar/289349 ^@ NM_004369.3(COL6A3):c.4324G>A (p.Asp1442Asn) http://identifiers.org/clinvar/289350 ^@ NM_015295.2(SMCHD1):c.4109G>A (p.Arg1370His) http://identifiers.org/clinvar/289351 ^@ NM_033071.3(SYNE1):c.10092C>T (p.Pro3364=) http://identifiers.org/clinvar/289352 ^@ NM_033071.3(SYNE1):c.12004A>G (p.Ile4002Val) http://identifiers.org/clinvar/289353 ^@ NM_024301.4(FKRP):c.1383G>T (p.Ala461=) http://identifiers.org/clinvar/289354 ^@ NM_033071.3(SYNE1):c.24423C>T (p.Arg8141=) http://identifiers.org/clinvar/289355 ^@ NM_000337.5(SGCD):c.415T>A (p.Phe139Ile) http://identifiers.org/clinvar/289356 ^@ NM_000152.4(GAA):c.1019A>G (p.Tyr340Cys) http://identifiers.org/clinvar/289357 ^@ NM_004369.3(COL6A3):c.9147C>T (p.Leu3049=) http://identifiers.org/clinvar/289358 ^@ NM_012470.3(TNPO3):c.804A>G (p.Gln268=) http://identifiers.org/clinvar/289359 ^@ NM_033071.3(SYNE1):c.22641A>G (p.Gln7547=) http://identifiers.org/clinvar/289360 ^@ NM_012470.3(TNPO3):c.1403G>A (p.Arg468His) http://identifiers.org/clinvar/289361 ^@ NM_000152.4(GAA):c.1781G>C (p.Arg594Pro) http://identifiers.org/clinvar/289362 ^@ NM_213599.2(ANO5):c.579A>T (p.Arg193Ser) http://identifiers.org/clinvar/289363 ^@ NM_004369.3(COL6A3):c.7480G>T (p.Val2494Leu) http://identifiers.org/clinvar/289364 ^@ NM_033071.3(SYNE1):c.12817G>C (p.Glu4273Gln) http://identifiers.org/clinvar/289365 ^@ NM_033071.3(SYNE1):c.818C>A (p.Pro273Gln) http://identifiers.org/clinvar/289366 ^@ NM_017739.3(POMGNT1):c.444G>A (p.Val148=) http://identifiers.org/clinvar/289367 ^@ NM_000152.4(GAA):c.1082C>G (p.Pro361Arg) http://identifiers.org/clinvar/289368 ^@ NM_001005741.2(GBA):c.1506-7T>C http://identifiers.org/clinvar/289369 ^@ NM_001101426.3(ISPD):c.28A>T (p.Arg10Trp) http://identifiers.org/clinvar/289370 ^@ NM_182961.3(SYNE1):c.8785G>A (p.Asp2929Asn) http://identifiers.org/clinvar/289371 ^@ NM_004369.3(COL6A3):c.6255G>A (p.Gln2085=) http://identifiers.org/clinvar/289372 ^@ NM_000070.2(CAPN3):c.1817C>T (p.Ser606Leu) http://identifiers.org/clinvar/289373 ^@ NM_000402.4(G6PD):c.1419C>T (p.Asp473=) http://identifiers.org/clinvar/289375 ^@ NM_198586.2(NHLRC1):c.740C>T (p.Ala247Val) http://identifiers.org/clinvar/289376 ^@ NM_001184880.1(PCDH19):c.1101delG (p.Ile368Serfs) http://identifiers.org/clinvar/289377 ^@ NM_020920.3(CHD8):c.4565G>A (p.Arg1522His) http://identifiers.org/clinvar/289378 ^@ NM_005045.3(RELN):c.326C>T (p.Ala109Val) http://identifiers.org/clinvar/289379 ^@ NM_000026.3(ADSL):c.907C>T (p.Arg303Cys) http://identifiers.org/clinvar/289380 ^@ NM_198056.2(SCN5A):c.5337G>A (p.Thr1779=) http://identifiers.org/clinvar/289381 ^@ NM_001127493.1(ANK2):c.1216A>G (p.Ile406Val) http://identifiers.org/clinvar/289382 ^@ NM_006726.4(LRBA):c.2340A>G (p.Thr780=) http://identifiers.org/clinvar/289383 ^@ NM_006037.3(HDAC4):c.339+10G>A http://identifiers.org/clinvar/289384 ^@ NM_024408.3(NOTCH2):c.6118G>A (p.Asp2040Asn) http://identifiers.org/clinvar/289385 ^@ NM_005529.6(HSPG2):c.8199A>G (p.Ser2733=) http://identifiers.org/clinvar/289386 ^@ NM_003659.3(AGPS):c.891T>C (p.Cys297=) http://identifiers.org/clinvar/289387 ^@ NM_000860.5(HPGD):c.433G>A (p.Val145Ile) http://identifiers.org/clinvar/289388 ^@ NM_014780.4(CUL7):c.2586G>T (p.Lys862Asn) http://identifiers.org/clinvar/289389 ^@ NM_001039141.2(TRIOBP):c.3309C>T (p.His1103=) http://identifiers.org/clinvar/289390 ^@ NM_206933.2(USH2A):c.14073C>T (p.Asn4691=) http://identifiers.org/clinvar/289391 ^@ NM_005219.4(DIAPH1):c.1769G>A (p.Gly590Asp) http://identifiers.org/clinvar/289392 ^@ NM_001039141.2(TRIOBP):c.2590C>T (p.Pro864Ser) http://identifiers.org/clinvar/289393 ^@ NM_000142.4(FGFR3):c.666C>T (p.Asp222=) http://identifiers.org/clinvar/289394 ^@ NM_002241.4(KCNJ10):c.994C>G (p.Gln332Glu) http://identifiers.org/clinvar/289395 ^@ NM_001130823.2(DNMT1):c.926+10T>G http://identifiers.org/clinvar/289396 ^@ NM_002222.5(ITPR1):c.5432T>G (p.Val1811Gly) http://identifiers.org/clinvar/289397 ^@ NM_020631.4(PLEKHG5):c.214C>A (p.Pro72Thr) http://identifiers.org/clinvar/289398 ^@ NM_001376.4(DYNC1H1):c.5347A>G (p.Ser1783Gly) http://identifiers.org/clinvar/289399 ^@ NM_021939.3(FKBP10):c.1390G>A (p.Glu464Lys) http://identifiers.org/clinvar/289400 ^@ NC_000015.9:g.792G>A http://identifiers.org/clinvar/289401 ^@ NM_001080463.1(DYNC2H1):c.11277+18C>T http://identifiers.org/clinvar/289402 ^@ NM_000282.3(PCCA):c.802C>T (p.Arg268Cys) http://identifiers.org/clinvar/289403 ^@ NM_000297.3(PKD2):c.2411G>A (p.Ser804Asn) http://identifiers.org/clinvar/289404 ^@ NM_173560.3(RFX6):c.2543G>A (p.Gly848Asp) http://identifiers.org/clinvar/289405 ^@ NM_173560.3(RFX6):c.2464G>A (p.Val822Ile) http://identifiers.org/clinvar/289406 ^@ NM_000548.4(TSC2):c.2858_2859delCCinsAA (p.Pro953Gln) http://identifiers.org/clinvar/289407 ^@ NM_001854.3(COL11A1):c.2322G>A (p.Lys774=) http://identifiers.org/clinvar/289408 ^@ NM_005529.6(HSPG2):c.10187C>T (p.Ala3396Val) http://identifiers.org/clinvar/289409 ^@ NM_001127899.3(CLCN5):c.1213C>T (p.Leu405=) http://identifiers.org/clinvar/289410 ^@ NC_000002.11:g.220431637_220431689del53 http://identifiers.org/clinvar/289411 ^@ NM_015311.2(OBSL1):c.3937G>A (p.Gly1313Arg) http://identifiers.org/clinvar/289412 ^@ NM_001014796.1(DDR2):c.786G>T (p.Glu262Asp) http://identifiers.org/clinvar/289413 ^@ NM_032119.3(ADGRV1):c.8004C>T (p.Asp2668=) http://identifiers.org/clinvar/289414 ^@ NM_032119.3(ADGRV1):c.15177G>T (p.Gln5059His) http://identifiers.org/clinvar/289415 ^@ NM_032119.3(ADGRV1):c.2816A>G (p.Asp939Gly) http://identifiers.org/clinvar/289416 ^@ NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) http://identifiers.org/clinvar/289417 ^@ NM_001182.4(ALDH7A1):c.1087T>C (p.Trp363Arg) http://identifiers.org/clinvar/289418 ^@ NM_004187.3(KDM5C):c.1440G>C (p.Pro480=) http://identifiers.org/clinvar/289419 ^@ NM_170740.1(ALDH5A1):c.588C>T (p.Gly196=) http://identifiers.org/clinvar/289420 ^@ NM_000350.2(ABCA4):c.4947delC (p.Glu1650Argfs) http://identifiers.org/clinvar/289421 ^@ NM_000362.4(TIMP3):c.321C>T (p.Arg107=) http://identifiers.org/clinvar/289422 ^@ NM_005529.6(HSPG2):c.13098C>T (p.Pro4366=) http://identifiers.org/clinvar/289423 ^@ NM_014319.4(LEMD3):c.282C>G (p.Val94=) http://identifiers.org/clinvar/289424 ^@ NM_004560.3(ROR2):c.1712A>G (p.His571Arg) http://identifiers.org/clinvar/289425 ^@ NM_001457.3(FLNB):c.4391G>C (p.Gly1464Ala) http://identifiers.org/clinvar/289426 ^@ NM_005529.6(HSPG2):c.8941G>A (p.Val2981Ile) http://identifiers.org/clinvar/289427 ^@ NM_005529.6(HSPG2):c.3894G>C (p.Gln1298His) http://identifiers.org/clinvar/289428 ^@ NM_080629.2(COL11A1):c.3164T>C (p.Leu1055Pro) http://identifiers.org/clinvar/289429 ^@ NM_003659.3(AGPS):c.1380A>C (p.Pro460=) http://identifiers.org/clinvar/289430 ^@ NM_004560.3(ROR2):c.2466C>T (p.Asn822=) http://identifiers.org/clinvar/289432 ^@ NM_001614.3(ACTG1):c.825C>T (p.His275=) http://identifiers.org/clinvar/289433 ^@ NM_017433.4(MYO3A):c.4627G>A (p.Glu1543Lys) http://identifiers.org/clinvar/289434 ^@ NM_032119.3(ADGRV1):c.17187C>T (p.Cys5729=) http://identifiers.org/clinvar/289435 ^@ NM_194248.2(OTOF):c.5292-9C>T http://identifiers.org/clinvar/289436 ^@ NM_006383.3(CIB2):c.231G>A (p.Ala77=) http://identifiers.org/clinvar/289437 ^@ NM_144672.3(OTOA):c.175C>A (p.Gln59Lys) http://identifiers.org/clinvar/289438 ^@ NM_006005.3(WFS1):c.2370G>C (p.Ser790=) http://identifiers.org/clinvar/289439 ^@ NM_194248.2(OTOF):c.2253G>A (p.Thr751=) http://identifiers.org/clinvar/289440 ^@ NM_080680.2(COL11A2):c.4767C>T (p.Asp1589=) http://identifiers.org/clinvar/289441 ^@ NM_001267550.2(TTN):c.31927+5T>G http://identifiers.org/clinvar/289442 ^@ NM_000393.4(COL5A2):c.870T>C (p.Pro290=) http://identifiers.org/clinvar/289443 ^@ NM_001267550.2(TTN):c.55503G>A (p.Lys18501=) http://identifiers.org/clinvar/289444 ^@ NM_007171.3(POMT1):c.1552+9G>A http://identifiers.org/clinvar/289445 ^@ NM_000023.3(SGCA):c.984-10G>A http://identifiers.org/clinvar/289446 ^@ NM_001267550.2(TTN):c.1541G>A (p.Arg514Lys) http://identifiers.org/clinvar/289447 ^@ NM_001267550.2(TTN):c.12644A>C (p.Gln4215Pro) http://identifiers.org/clinvar/289448 ^@ NM_001267550.2(TTN):c.86848G>A (p.Gly28950Arg) http://identifiers.org/clinvar/289449 ^@ NM_004369.3(COL6A3):c.5085C>G (p.Asp1695Glu) http://identifiers.org/clinvar/289450 ^@ NM_018979.3(WNK1):c.3209+3A>G http://identifiers.org/clinvar/289451 ^@ NM_001190836.1(DCTN1):c.1506A>G (p.Glu502=) http://identifiers.org/clinvar/289452 ^@ NM_014846.3(WASHC5):c.617A>G (p.Asn206Ser) http://identifiers.org/clinvar/289453 ^@ NM_015346.3(ZFYVE26):c.5121A>C (p.Gly1707=) http://identifiers.org/clinvar/289454 ^@ NM_181882.2(PRX):c.2043C>T (p.Pro681=) http://identifiers.org/clinvar/289455 ^@ NM_015346.3(ZFYVE26):c.4264G>A (p.Val1422Met) http://identifiers.org/clinvar/289456 ^@ NM_003680.3(YARS):c.52C>T (p.Leu18=) http://identifiers.org/clinvar/289457 ^@ NM_022041.3(GAN):c.1162C>T (p.Leu388=) http://identifiers.org/clinvar/289458 ^@ NM_144599.4(NIPA1):c.312G>A (p.Pro104=) http://identifiers.org/clinvar/289459 ^@ NM_005135.2(SLC12A6):c.3096G>A (p.Arg1032=) http://identifiers.org/clinvar/289460 ^@ NM_002222.5(ITPR1):c.3822C>T (p.Asn1274=) http://identifiers.org/clinvar/289461 ^@ NM_015074.3(KIF1B):c.1977+6A>T http://identifiers.org/clinvar/289462 ^@ NM_000253.3(MTTP):c.2025C>T (p.Ile675=) http://identifiers.org/clinvar/289463 ^@ NM_001267550.2(TTN):c.51947T>G (p.Leu17316Arg) http://identifiers.org/clinvar/289464 ^@ NM_201382.3(PLEC):c.4682G>A (p.Arg1561Gln) http://identifiers.org/clinvar/289465 ^@ NM_000053.3(ATP7B):c.2921C>T (p.Thr974Met) http://identifiers.org/clinvar/289466 ^@ NM_001271208.1(NEB):c.11221G>A (p.Gly3741Ser) http://identifiers.org/clinvar/289467 ^@ NM_003091.3(SNRPB):c.607A>G (p.Met203Val) http://identifiers.org/clinvar/289469 ^@ NM_001848.2(COL6A1):c.1763C>T (p.Pro588Leu) http://identifiers.org/clinvar/289470 ^@ NM_001848.2(COL6A1):c.1712A>C (p.Lys571Thr) http://identifiers.org/clinvar/289471 ^@ NM_001130987.1(DYSF):c.127G>A (p.Val43Met) http://identifiers.org/clinvar/289472 ^@ NM_024301.4(FKRP):c.395G>A (p.Gly132Glu) http://identifiers.org/clinvar/289473 ^@ NM_024301.4(FKRP):c.970G>T (p.Glu324Ter) http://identifiers.org/clinvar/289474 ^@ NM_213599.2(ANO5):c.223G>C (p.Asp75His) http://identifiers.org/clinvar/289475 ^@ NM_001256850.1(TTN):c.72984C>T (p.Asn24328=) http://identifiers.org/clinvar/289476 ^@ NM_004006.2(DMD):c.1483G>T (p.Val495Leu) http://identifiers.org/clinvar/289477 ^@ NM_001128227.2(GNE):c.788T>C (p.Met263Thr) http://identifiers.org/clinvar/289478 ^@ NM_001130987.1(DYSF):c.1496A>G (p.Asp499Gly) http://identifiers.org/clinvar/289479 ^@ NM_013382.5(POMT2):c.1117-7C>G http://identifiers.org/clinvar/289480 ^@ NM_032119.3(ADGRV1):c.17933A>G (p.His5978Arg) http://identifiers.org/clinvar/289481 ^@ NM_006015.4(ARID1A):c.1715C>T (p.Thr572Met) http://identifiers.org/clinvar/289482 ^@ NM_001029882.3(AHDC1):c.4073C>T (p.Thr1358Ile) http://identifiers.org/clinvar/289483 ^@ NM_003494.3(DYSF):c.2151C>T (p.Ile717=) http://identifiers.org/clinvar/289484 ^@ NM_213599.2(ANO5):c.923G>A (p.Gly308Glu) http://identifiers.org/clinvar/289485 ^@ NM_004006.2(DMD):c.914C>T (p.Ala305Val) http://identifiers.org/clinvar/289486 ^@ NM_000117.2(EMD):c.251_255delTCTAC (p.Leu84Profs) http://identifiers.org/clinvar/289487 ^@ NM_004369.3(COL6A3):c.5203G>T (p.Ala1735Ser) http://identifiers.org/clinvar/289488 ^@ NM_000152.4(GAA):c.2652G>A (p.Thr884=) http://identifiers.org/clinvar/289489 ^@ NM_001101426.3(ISPD):c.77A>C (p.His26Pro) http://identifiers.org/clinvar/289490 ^@ NM_003494.3(DYSF):c.1657C>T (p.Arg553Cys) http://identifiers.org/clinvar/289491 ^@ NM_000101.3(CYBA):c.403G>A (p.Glu135Lys) http://identifiers.org/clinvar/289492 ^@ NM_004006.2(DMD):c.9832G>A (p.Ala3278Thr) http://identifiers.org/clinvar/289493 ^@ NM_000293.2(PHKB):c.1546C>T (p.Gln516Ter) http://identifiers.org/clinvar/289494 ^@ NM_000370.3(TTPA):c.24C>G (p.Pro8=) http://identifiers.org/clinvar/289495 ^@ NM_002529.3(NTRK1):c.10G>A (p.Gly4Ser) http://identifiers.org/clinvar/289496 ^@ NM_006922.3(SCN3A):c.1773T>C (p.Asn591=) http://identifiers.org/clinvar/289498 ^@ NM_001135659.2(NRXN1):c.3523A>G (p.Ile1175Val) http://identifiers.org/clinvar/289499 ^@ NM_002977.3(SCN9A):c.3431T>A (p.Phe1144Tyr) http://identifiers.org/clinvar/289500 ^@ NM_001014797.2(KCNMA1):c.711C>T (p.Asn237=) http://identifiers.org/clinvar/289501 ^@ NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) http://identifiers.org/clinvar/289502 ^@ NM_006662.2(SRCAP):c.8531G>C (p.Gly2844Ala) http://identifiers.org/clinvar/289503 ^@ NM_000515.4(GH1):c.7A>G (p.Thr3Ala) http://identifiers.org/clinvar/289504 ^@ NM_012448.3(STAT5B):c.1569G>A (p.Arg523=) http://identifiers.org/clinvar/289505 ^@ NM_001128177.1(THRB):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/289506 ^@ NM_004006.2(DMD):c.5881_5882delAG (p.Ser1961Glnfs) http://identifiers.org/clinvar/289507 ^@ NM_003482.3(KMT2D):c.12728A>C (p.Tyr4243Ser) http://identifiers.org/clinvar/289508 ^@ NM_001130438.2(SPTAN1):c.3060C>T (p.Tyr1020=) http://identifiers.org/clinvar/289509 ^@ NM_001127221.1(CACNA1A):c.330G>A (p.Ala110=) http://identifiers.org/clinvar/289510 ^@ NM_018136.4(ASPM):c.9573A>G (p.Ala3191=) http://identifiers.org/clinvar/289511 ^@ NM_153026.2(PRICKLE1):c.2027G>A (p.Arg676Gln) http://identifiers.org/clinvar/289512 ^@ NM_006662.2(SRCAP):c.1545A>G (p.Glu515=) http://identifiers.org/clinvar/289513 ^@ NM_005634.2(SOX3):c.711_731del21 (p.Ala242_Ala248del) http://identifiers.org/clinvar/289514 ^@ NM_000553.4(WRN):c.3098G>T (p.Arg1033Leu) http://identifiers.org/clinvar/289515 ^@ NM_001429.3(EP300):c.574A>T (p.Met192Leu) http://identifiers.org/clinvar/289516 ^@ NM_000875.4(IGF1R):c.2782A>G (p.Thr928Ala) http://identifiers.org/clinvar/289517 ^@ NM_005045.3(RELN):c.2176T>A (p.Phe726Ile) http://identifiers.org/clinvar/289518 ^@ NM_022455.4(NSD1):c.5458G>A (p.Val1820Met) http://identifiers.org/clinvar/289519 ^@ NM_201379.2(PLEC):c.9640A>G (p.Lys3214Glu) http://identifiers.org/clinvar/289520 ^@ NM_182961.3(SYNE1):c.2119G>C (p.Asp707His) http://identifiers.org/clinvar/289521 ^@ NM_004006.2(DMD):c.923C>T (p.Thr308Ile) http://identifiers.org/clinvar/289522 ^@ NM_024757.4(EHMT1):c.2997C>G (p.Ala999=) http://identifiers.org/clinvar/289523 ^@ NM_001267550.2(TTN):c.84188G>A (p.Arg28063His) http://identifiers.org/clinvar/289524 ^@ NM_133378.4(TTN):c.51637C>T (p.Leu17213Phe) http://identifiers.org/clinvar/289525 ^@ NM_002834.4(PTPN11):c.1740T>C (p.Tyr580=) http://identifiers.org/clinvar/289526 ^@ NM_000540.2(RYR1):c.14731G>A (p.Glu4911Lys) http://identifiers.org/clinvar/289527 ^@ NM_001039141.2(TRIOBP):c.5853G>A (p.Leu1951=) http://identifiers.org/clinvar/289528 ^@ NM_003742.2(ABCB11):c.2523G>A (p.Gly841=) http://identifiers.org/clinvar/289529 ^@ NM_000392.4(ABCC2):c.2125T>C (p.Trp709Arg) http://identifiers.org/clinvar/289530 ^@ NM_005603.4(ATP8B1):c.279G>A (p.Ala93=) http://identifiers.org/clinvar/289531 ^@ NM_001165927.1(MKS1):c.293G>A (p.Arg98His) http://identifiers.org/clinvar/289532 ^@ NM_000235.3(LIPA):c.885C>T (p.His295=) http://identifiers.org/clinvar/289533 ^@ NM_003742.2(ABCB11):c.503C>A (p.Ala168Asp) http://identifiers.org/clinvar/289534 ^@ NM_080916.2(DGUOK):c.405G>A (p.Lys135=) http://identifiers.org/clinvar/289535 ^@ NM_014425.4(INVS):c.1704G>A (p.Gly568=) http://identifiers.org/clinvar/289536 ^@ NM_000214.2(JAG1):c.2073T>C (p.Cys691=) http://identifiers.org/clinvar/289537 ^@ NM_018849.2(ABCB4):c.3392G>A (p.Cys1131Tyr) http://identifiers.org/clinvar/289538 ^@ NM_003742.2(ABCB11):c.930C>T (p.Phe310=) http://identifiers.org/clinvar/289539 ^@ NM_153240.4(NPHP3):c.408G>C (p.Thr136=) http://identifiers.org/clinvar/289540 ^@ NM_004817.3(TJP2):c.19C>T (p.Arg7Cys) http://identifiers.org/clinvar/289541 ^@ NM_001131025.1(PEX5):c.604G>C (p.Val202Leu) http://identifiers.org/clinvar/289542 ^@ NM_003742.2(ABCB11):c.1583T>C (p.Ile528Thr) http://identifiers.org/clinvar/289543 ^@ NM_138694.3(PKHD1):c.11800G>A (p.Val3934Ile) http://identifiers.org/clinvar/289544 ^@ NM_003630.2(PEX3):c.578+8A>G http://identifiers.org/clinvar/289545 ^@ NM_003742.2(ABCB11):c.1535T>C (p.Ile512Thr) http://identifiers.org/clinvar/289546 ^@ NM_005989.3(AKR1D1):c.380C>T (p.Pro127Leu) http://identifiers.org/clinvar/289547 ^@ NM_000780.3(CYP7A1):c.1003T>C (p.Leu335=) http://identifiers.org/clinvar/289548 ^@ NM_014425.4(INVS):c.2200C>T (p.Arg734Trp) http://identifiers.org/clinvar/289549 ^@ NM_000392.4(ABCC2):c.3081C>T (p.Tyr1027=) http://identifiers.org/clinvar/289550 ^@ NM_000286.2(PEX12):c.763G>A (p.Val255Ile) http://identifiers.org/clinvar/289551 ^@ NM_012254.2(SLC27A5):c.934G>A (p.Val312Ile) http://identifiers.org/clinvar/289552 ^@ NM_012254.2(SLC27A5):c.1125C>T (p.Gly375=) http://identifiers.org/clinvar/289553 ^@ NM_001848.2(COL6A1):c.903+3_903+7delACGTGinsCCTTC http://identifiers.org/clinvar/289554 ^@ NM_001165927.1(MKS1):c.784G>A (p.Ala262Thr) http://identifiers.org/clinvar/289555 ^@ NM_153240.4(NPHP3):c.2769C>T (p.Phe923=) http://identifiers.org/clinvar/289556 ^@ NM_153818.1(PEX10):c.333C>T (p.Leu111=) http://identifiers.org/clinvar/289557 ^@ NM_005603.4(ATP8B1):c.913T>A (p.Phe305Ile) http://identifiers.org/clinvar/289558 ^@ NM_033071.3(SYNE1):c.18657C>T (p.Ser6219=) http://identifiers.org/clinvar/289559 ^@ NM_001130987.1(DYSF):c.6133C>T (p.Arg2045Trp) http://identifiers.org/clinvar/289560 ^@ NM_033071.3(SYNE1):c.23578-7C>T http://identifiers.org/clinvar/289561 ^@ NM_012210.3(TRIM32):c.1178A>G (p.Tyr393Cys) http://identifiers.org/clinvar/289562 ^@ NM_001267550.2(TTN):c.35287C>T (p.Arg11763Ter) http://identifiers.org/clinvar/289563 ^@ NM_000231.2(SGCG):c.236G>A (p.Arg79His) http://identifiers.org/clinvar/289564 ^@ NM_182961.3(SYNE1):c.19121G>A (p.Arg6374Lys) http://identifiers.org/clinvar/289565 ^@ NM_024301.4(FKRP):c.456C>G (p.Ser152Arg) http://identifiers.org/clinvar/289566 ^@ NM_033071.3(SYNE1):c.9740T>C (p.Leu3247Pro) http://identifiers.org/clinvar/289567 ^@ NM_001849.3(COL6A2):c.2711C>T (p.Ala904Val) http://identifiers.org/clinvar/289568 ^@ NM_001159702.2(FHL1):c.446_448delACT (p.Tyr149del) http://identifiers.org/clinvar/289569 ^@ NM_004006.2(DMD):c.2492_2494delACA (p.Asn831del) http://identifiers.org/clinvar/289570 ^@ NM_001079802.1(FKTN):c.485A>G (p.Tyr162Cys) http://identifiers.org/clinvar/289571 ^@ NM_001130987.1(DYSF):c.1276+5G>A http://identifiers.org/clinvar/289572 ^@ NM_001849.3(COL6A2):c.2377G>A (p.Val793Ile) http://identifiers.org/clinvar/289573 ^@ NM_004369.3(COL6A3):c.3755G>A (p.Arg1252His) http://identifiers.org/clinvar/289574 ^@ NM_001165928.3(DAG1):c.1641C>T (p.Gly547=) http://identifiers.org/clinvar/289575 ^@ NM_001130987.1(DYSF):c.1080C>T (p.Asp360=) http://identifiers.org/clinvar/289576 ^@ NM_182961.3(SYNE1):c.19365A>G (p.Glu6455=) http://identifiers.org/clinvar/289577 ^@ NM_033071.3(SYNE1):c.24907C>G (p.Gln8303Glu) http://identifiers.org/clinvar/289578 ^@ NM_001267550.2(TTN):c.34734A>G (p.Val11578=) http://identifiers.org/clinvar/289579 ^@ NM_213599.2(ANO5):c.1116A>G (p.Ser372=) http://identifiers.org/clinvar/289580 ^@ NM_001849.3(COL6A2):c.2738_2740delCCT (p.Ser913del) http://identifiers.org/clinvar/289581 ^@ NM_001849.3(COL6A2):c.1770+1delG http://identifiers.org/clinvar/289582 ^@ NM_000023.3(SGCA):c.882C>A (p.Leu294=) http://identifiers.org/clinvar/289583 ^@ NM_000070.2(CAPN3):c.768C>T (p.Ile256=) http://identifiers.org/clinvar/289584 ^@ NM_182961.3(SYNE1):c.22978C>T (p.Arg7660Trp) http://identifiers.org/clinvar/289585 ^@ NM_001849.3(COL6A2):c.2626C>T (p.Arg876Cys) http://identifiers.org/clinvar/289586 ^@ NM_001243766.1(POMGNT1):c.1907G>C (p.Gly636Ala) http://identifiers.org/clinvar/289587 ^@ NM_004006.2(DMD):c.626T>C (p.Ile209Thr) http://identifiers.org/clinvar/289588 ^@ NM_004006.2(DMD):c.9955T>C (p.Cys3319Arg) http://identifiers.org/clinvar/289589 ^@ NM_182961.3(SYNE1):c.2210T>C (p.Val737Ala) http://identifiers.org/clinvar/289590 ^@ NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) http://identifiers.org/clinvar/289591 ^@ NM_004006.2(DMD):c.1687C>T (p.Arg563Cys) http://identifiers.org/clinvar/289592 ^@ NM_004006.2(DMD):c.501G>T (p.Leu167=) http://identifiers.org/clinvar/289593 ^@ NM_012470.3(TNPO3):c.2611T>C (p.Trp871Arg) http://identifiers.org/clinvar/289594 ^@ NM_013382.5(POMT2):c.1046G>A (p.Arg349Gln) http://identifiers.org/clinvar/289595 ^@ NM_001849.3(COL6A2):c.2629G>A (p.Val877Met) http://identifiers.org/clinvar/289596 ^@ NM_001111125.2(IQSEC2):c.560G>A (p.Gly187Asp) http://identifiers.org/clinvar/289597 ^@ NM_001701.3(BAAT):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/289598 ^@ NM_002618.3(PEX13):c.1144G>C (p.Val382Leu) http://identifiers.org/clinvar/289599 ^@ NM_000214.2(JAG1):c.1395+3A>G http://identifiers.org/clinvar/289600 ^@ NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) http://identifiers.org/clinvar/289601 ^@ NM_080916.2(DGUOK):c.301C>T (p.Arg101Trp) http://identifiers.org/clinvar/289602 ^@ NM_000463.2(UGT1A1):c.540A>G (p.Glu180=) http://identifiers.org/clinvar/289603 ^@ NM_002247.3(KCNMA1):c.1320C>T (p.Ile440=) http://identifiers.org/clinvar/289604 ^@ NM_000388.3(CASR):c.1074C>T (p.Cys358=) http://identifiers.org/clinvar/289605 ^@ NM_032119.3(ADGRV1):c.17973+7A>G http://identifiers.org/clinvar/289606 ^@ NM_018136.4(ASPM):c.9657T>G (p.Ser3219=) http://identifiers.org/clinvar/289607 ^@ NM_001456.3(FLNA):c.5194-4G>A http://identifiers.org/clinvar/289608 ^@ NM_005881.3(BCKDK):c.*9C>A http://identifiers.org/clinvar/289609 ^@ NM_001456.3(FLNA):c.4551G>C (p.Gly1517=) http://identifiers.org/clinvar/289610 ^@ NM_000883.3(IMPDH1):c.1551C>T (p.Ser517=) http://identifiers.org/clinvar/289611 ^@ NM_015272.4(RPGRIP1L):c.1810G>A (p.Glu604Lys) http://identifiers.org/clinvar/289612 ^@ NM_000280.4(PAX6):c.121G>C (p.Asp41His) http://identifiers.org/clinvar/289613 ^@ NM_001077182.2(FSCN2):c.1349G>A (p.Arg450His) http://identifiers.org/clinvar/289614 ^@ NM_006915.2(RP2):c.30G>A (p.Lys10=) http://identifiers.org/clinvar/289615 ^@ NM_015404.3(WHRN):c.716C>T (p.Pro239Leu) http://identifiers.org/clinvar/289616 ^@ NM_006017.2(PROM1):c.2271C>T (p.Ile757=) http://identifiers.org/clinvar/289617 ^@ NM_000280.4(PAX6):c.1033-3C>G http://identifiers.org/clinvar/289618 ^@ NM_000095.2(COMP):c.1110G>A (p.Ala370=) http://identifiers.org/clinvar/289619 ^@ NM_006744.3(RBP4):c.544C>A (p.Gln182Lys) http://identifiers.org/clinvar/289620 ^@ NM_001077182.2(FSCN2):c.349C>G (p.Gln117Glu) http://identifiers.org/clinvar/289621 ^@ NM_207361.5(FREM2):c.5642-9T>C http://identifiers.org/clinvar/289622 ^@ NM_144966.5(FREM1):c.292A>G (p.Ile98Val) http://identifiers.org/clinvar/289623 ^@ NM_025074.6(FRAS1):c.4291G>A (p.Asp1431Asn) http://identifiers.org/clinvar/289624 ^@ NM_025074.6(FRAS1):c.7033G>A (p.Glu2345Lys) http://identifiers.org/clinvar/289625 ^@ NM_021150.3(GRIP1):c.3051C>T (p.Pro1017=) http://identifiers.org/clinvar/289626 ^@ NM_207361.5(FREM2):c.5120G>A (p.Gly1707Glu) http://identifiers.org/clinvar/289627 ^@ NM_144966.5(FREM1):c.5123T>C (p.Ile1708Thr) http://identifiers.org/clinvar/289628 ^@ NM_001845.5(COL4A1):c.7C>A (p.Pro3Thr) http://identifiers.org/clinvar/289629 ^@ NM_025074.6(FRAS1):c.11634G>C (p.Lys3878Asn) http://identifiers.org/clinvar/289630 ^@ NM_000642.2(AGL):c.1885G>A (p.Glu629Lys) http://identifiers.org/clinvar/289631 ^@ NM_182961.3(SYNE1):c.9903C>T (p.His3301=) http://identifiers.org/clinvar/289632 ^@ NM_000232.4(SGCB):c.758A>G (p.Asn253Ser) http://identifiers.org/clinvar/289633 ^@ NM_001927.3(DES):c.1030T>C (p.Ser344Pro) http://identifiers.org/clinvar/289634 ^@ NM_001848.2(COL6A1):c.2626G>A (p.Val876Met) http://identifiers.org/clinvar/289635 ^@ NM_000152.4(GAA):c.1842G>A (p.Thr614=) http://identifiers.org/clinvar/289636 ^@ NM_012470.3(TNPO3):c.332C>T (p.Ala111Val) http://identifiers.org/clinvar/289637 ^@ NM_033071.3(SYNE1):c.5442+9G>T http://identifiers.org/clinvar/289638 ^@ NM_015295.2(SMCHD1):c.3047C>T (p.Pro1016Leu) http://identifiers.org/clinvar/289639 ^@ NM_013382.5(POMT2):c.1726-9A>T http://identifiers.org/clinvar/289640 ^@ NM_001101426.3(ISPD):c.402A>G (p.Leu134=) http://identifiers.org/clinvar/289641 ^@ NM_033071.3(SYNE1):c.13576G>A (p.Glu4526Lys) http://identifiers.org/clinvar/289642 ^@ NM_033071.3(SYNE1):c.20115G>C (p.Trp6705Cys) http://identifiers.org/clinvar/289643 ^@ NM_182961.3(SYNE1):c.4902G>A (p.Gln1634=) http://identifiers.org/clinvar/289644 ^@ NM_000070.2(CAPN3):c.1466G>A (p.Arg489Gln) http://identifiers.org/clinvar/289645 ^@ NM_033071.3(SYNE1):c.9888T>C (p.Ile3296=) http://identifiers.org/clinvar/289646 ^@ NM_004369.3(COL6A3):c.5825C>T (p.Pro1942Leu) http://identifiers.org/clinvar/289647 ^@ NM_213599.2(ANO5):c.331A>C (p.Thr111Pro) http://identifiers.org/clinvar/289648 ^@ NM_033071.3(SYNE1):c.13009G>A (p.Ala4337Thr) http://identifiers.org/clinvar/289649 ^@ NM_004369.3(COL6A3):c.1513A>G (p.Lys505Glu) http://identifiers.org/clinvar/289650 ^@ NM_000231.2(SGCG):c.158T>C (p.Leu53Pro) http://identifiers.org/clinvar/289651 ^@ NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp) http://identifiers.org/clinvar/289652 ^@ NM_213599.2(ANO5):c.424A>T (p.Thr142Ser) http://identifiers.org/clinvar/289653 ^@ NM_001558.3(IL10RA):c.67+10C>T http://identifiers.org/clinvar/289654 ^@ NM_033071.3(SYNE1):c.20053C>T (p.Leu6685Phe) http://identifiers.org/clinvar/289655 ^@ NM_013382.5(POMT2):c.102C>G (p.Ala34=) http://identifiers.org/clinvar/289656 ^@ NM_201382.3(PLEC):c.1286G>A (p.Gly429Asp) http://identifiers.org/clinvar/289657 ^@ NM_201382.3(PLEC):c.13213C>T (p.Arg4405Cys) http://identifiers.org/clinvar/289658 ^@ NM_201383.2(PLEC):c.7192C>T (p.Arg2398Ter) http://identifiers.org/clinvar/289659 ^@ NM_001927.3(DES):c.944G>A (p.Arg315His) http://identifiers.org/clinvar/289660 ^@ NM_178443.2(FERMT3):c.615C>T (p.Pro205=) http://identifiers.org/clinvar/289661 ^@ NM_001854.3(COL11A1):c.3639G>A (p.Gly1213=) http://identifiers.org/clinvar/289662 ^@ NM_004239.4(TRIP11):c.5937A>G (p.Gln1979=) http://identifiers.org/clinvar/289663 ^@ NM_001853.3(COL9A3):c.72G>A (p.Gly24=) http://identifiers.org/clinvar/289664 ^@ NM_147127.4(EVC2):c.1499G>A (p.Arg500Gln) http://identifiers.org/clinvar/289665 ^@ NM_003839.3(TNFRSF11A):c.570C>T (p.Ser190=) http://identifiers.org/clinvar/289666 ^@ NM_002615.6(SERPINF1):c.202G>C (p.Val68Leu) http://identifiers.org/clinvar/289667 ^@ NM_014319.4(LEMD3):c.2388-7C>T http://identifiers.org/clinvar/289668 ^@ NM_014762.3(DHCR24):c.1084A>G (p.Lys362Glu) http://identifiers.org/clinvar/289669 ^@ NM_007317.2(KIF22):c.71-12_71-10delTCT http://identifiers.org/clinvar/289670 ^@ NM_006371.4(CRTAP):c.20G>C (p.Gly7Ala) http://identifiers.org/clinvar/289671 ^@ NM_000138.4(FBN1):c.1498G>C (p.Ala500Pro) http://identifiers.org/clinvar/289672 ^@ NM_004369.3(COL6A3):c.6066C>T (p.Asp2022=) http://identifiers.org/clinvar/289673 ^@ NM_033071.3(SYNE1):c.24447C>T (p.His8149=) http://identifiers.org/clinvar/289674 ^@ NM_000070.2(CAPN3):c.1643G>A (p.Arg548His) http://identifiers.org/clinvar/289675 ^@ NM_000070.2(CAPN3):c.2409A>G (p.Gly803=) http://identifiers.org/clinvar/289676 ^@ NM_000152.4(GAA):c.858+7_858+8insAGCAGGC http://identifiers.org/clinvar/289677 ^@ NM_001101426.3(ISPD):c.551G>A (p.Arg184Gln) http://identifiers.org/clinvar/289678 ^@ NM_001101426.3(ISPD):c.808C>T (p.Leu270Phe) http://identifiers.org/clinvar/289679 ^@ NM_004369.3(COL6A3):c.7368G>A (p.Thr2456=) http://identifiers.org/clinvar/289680 ^@ NM_013382.5(POMT2):c.1192G>C (p.Asp398His) http://identifiers.org/clinvar/289681 ^@ NM_015295.2(SMCHD1):c.4105G>A (p.Val1369Ile) http://identifiers.org/clinvar/289682 ^@ NM_001449.4(FHL1):c.213C>A (p.Cys71Ter) http://identifiers.org/clinvar/289683 ^@ NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) http://identifiers.org/clinvar/289684 ^@ NM_001849.3(COL6A2):c.2929G>A (p.Gly977Ser) http://identifiers.org/clinvar/289685 ^@ NM_015311.2(OBSL1):c.1215C>T (p.Asp405=) http://identifiers.org/clinvar/289686 ^@ NM_005529.6(HSPG2):c.8336G>A (p.Arg2779Gln) http://identifiers.org/clinvar/289687 ^@ NM_080629.2(COL11A1):c.2646+9T>C http://identifiers.org/clinvar/289688 ^@ NM_013227.3(ACAN):c.4764G>A (p.Gly1588=) http://identifiers.org/clinvar/289689 ^@ NM_001017420.2(ESCO2):c.304A>G (p.Ile102Val) http://identifiers.org/clinvar/289690 ^@ NM_004260.3(RECQL4):c.2585C>T (p.Ser862Leu) http://identifiers.org/clinvar/289691 ^@ NM_000193.3(SHH):c.972C>T (p.Asp324=) http://identifiers.org/clinvar/289692 ^@ NM_016941.3(DLL3):c.1066C>T (p.Arg356Trp) http://identifiers.org/clinvar/289693 ^@ NM_004239.4(TRIP11):c.1191C>G (p.Ala397=) http://identifiers.org/clinvar/289694 ^@ NM_152380.2(TBX15):c.1007G>A (p.Arg336Lys) http://identifiers.org/clinvar/289695 ^@ NM_003482.3(KMT2D):c.14643+12G>A http://identifiers.org/clinvar/289696 ^@ NM_152380.2(TBX15):c.1410A>G (p.Gln470=) http://identifiers.org/clinvar/289697 ^@ NM_002968.2(SALL1):c.1715C>T (p.Thr572Met) http://identifiers.org/clinvar/289698 ^@ NM_000192.3(TBX5):c.786C>T (p.Thr262=) http://identifiers.org/clinvar/289699 ^@ NM_016239.3(MYO15A):c.7533C>T (p.Pro2511=) http://identifiers.org/clinvar/289700 ^@ NM_000060.4(BTD):c.440A>G (p.His147Arg) http://identifiers.org/clinvar/289702 ^@ NM_004999.3(MYO6):c.3530G>A (p.Arg1177His) http://identifiers.org/clinvar/289703 ^@ NM_001145809.1(MYH14):c.4445G>A (p.Arg1482Gln) http://identifiers.org/clinvar/289704 ^@ NM_033380.2(COL4A5):c.2295A>G (p.Pro765=) http://identifiers.org/clinvar/289705 ^@ NM_000218.2(KCNQ1):c.759C>T (p.Ser253=) http://identifiers.org/clinvar/289706 ^@ NM_001199799.1(ILDR1):c.391G>A (p.Val131Met) http://identifiers.org/clinvar/289707 ^@ NM_001145809.1(MYH14):c.5215C>A (p.Arg1739Ser) http://identifiers.org/clinvar/289708 ^@ NM_000218.2(KCNQ1):c.879C>A (p.Arg293=) http://identifiers.org/clinvar/289709 ^@ NM_015404.3(WHRN):c.1473C>T (p.Phe491=) http://identifiers.org/clinvar/289710 ^@ NM_001130823.2(DNMT1):c.3806+6C>T http://identifiers.org/clinvar/289711 ^@ NM_005422.2(TECTA):c.6402G>T (p.Thr2134=) http://identifiers.org/clinvar/289712 ^@ NM_001039141.2(TRIOBP):c.3944G>A (p.Arg1315His) http://identifiers.org/clinvar/289713 ^@ NM_080629.2(COL11A1):c.2405G>A (p.Gly802Asp) http://identifiers.org/clinvar/289714 ^@ NM_001851.4(COL9A1):c.155A>T (p.Asp52Val) http://identifiers.org/clinvar/289715 ^@ NM_080629.2(COL11A1):c.4590+1G>C http://identifiers.org/clinvar/289716 ^@ NM_001844.4(COL2A1):c.297delA (p.Gln99Hisfs) http://identifiers.org/clinvar/289717 ^@ NM_001793.5(CDH3):c.2364C>T (p.Asp788=) http://identifiers.org/clinvar/289718 ^@ NM_000532.4(PCCB):c.617A>G (p.Tyr206Cys) http://identifiers.org/clinvar/289719 ^@ NM_000532.4(PCCB):c.184-1G>A http://identifiers.org/clinvar/289720 ^@ NM_017617.4(NOTCH1):c.3528C>T (p.His1176=) http://identifiers.org/clinvar/289721 ^@ NM_173630.3(RTTN):c.1301A>C (p.Asp434Ala) http://identifiers.org/clinvar/289722 ^@ NM_024301.4(FKRP):c.904G>A (p.Gly302Ser) http://identifiers.org/clinvar/289723 ^@ NM_006059.3(LAMC3):c.1939G>C (p.Gly647Arg) http://identifiers.org/clinvar/289724 ^@ NM_001197181.1(TUBB3):c.291C>T (p.Val97=) http://identifiers.org/clinvar/289725 ^@ NM_015634.3(KIF1BP):c.1141G>A (p.Val381Met) http://identifiers.org/clinvar/289726 ^@ NM_004737.5(LARGE1):c.1092C>T (p.Thr364=) http://identifiers.org/clinvar/289727 ^@ NM_002768.4(CHMP1A):c.114G>A (p.Leu38=) http://identifiers.org/clinvar/289728 ^@ NM_001999.3(FBN2):c.6982G>T (p.Ala2328Ser) http://identifiers.org/clinvar/289729 ^@ NM_000093.4(COL5A1):c.964G>A (p.Glu322Lys) http://identifiers.org/clinvar/289730 ^@ NM_152264.4(SLC39A13):c.119G>A (p.Arg40Gln) http://identifiers.org/clinvar/289731 ^@ NM_006059.3(LAMC3):c.1520-6G>A http://identifiers.org/clinvar/289732 ^@ NM_018136.4(ASPM):c.6759G>A (p.Lys2253=) http://identifiers.org/clinvar/289733 ^@ NM_012301.3(MAGI2):c.1406C>T (p.Thr469Ile) http://identifiers.org/clinvar/289734 ^@ NM_001110792.1(MECP2):c.1410C>T (p.Arg470=) http://identifiers.org/clinvar/289735 ^@ NM_020320.4(RARS2):c.888G>A (p.Thr296=) http://identifiers.org/clinvar/289736 ^@ NM_153240.4(NPHP3):c.2647C>T (p.His883Tyr) http://identifiers.org/clinvar/289737 ^@ NM_000235.3(LIPA):c.112-9T>C http://identifiers.org/clinvar/289738 ^@ NM_000463.2(UGT1A1):c.138C>T (p.Ala46=) http://identifiers.org/clinvar/289739 ^@ NM_000271.4(NPC1):c.1542G>A (p.Leu514=) http://identifiers.org/clinvar/289740 ^@ NM_004813.2(PEX16):c.999C>T (p.Tyr333=) http://identifiers.org/clinvar/289741 ^@ NM_000492.3(CFTR):c.1164G>A (p.Thr388=) http://identifiers.org/clinvar/289742 ^@ NM_022436.2(ABCG5):c.957C>T (p.Ser319=) http://identifiers.org/clinvar/289743 ^@ NM_153818.1(PEX10):c.876G>T (p.Leu292=) http://identifiers.org/clinvar/289744 ^@ NM_018979.3(WNK1):c.6150T>C (p.Leu2050=) http://identifiers.org/clinvar/289745 ^@ NM_018979.3(WNK1):c.1074C>T (p.Thr358=) http://identifiers.org/clinvar/289746 ^@ NM_001111.4(ADAR):c.2130dupC (p.Asn711Glnfs) http://identifiers.org/clinvar/289747 ^@ NM_000702.3(ATP1A2):c.1410C>G (p.Asp470Glu) http://identifiers.org/clinvar/289748 ^@ NM_014140.3(SMARCAL1):c.2321C>T (p.Ser774Leu) http://identifiers.org/clinvar/289749 ^@ NM_014625.3(NPHS2):c.724G>A (p.Ala242Thr) http://identifiers.org/clinvar/289750 ^@ NM_002578.4(PAK3):c.786G>A (p.Gly262=) http://identifiers.org/clinvar/289751 ^@ NM_000070.2(CAPN3):c.608C>T (p.Ala203Val) http://identifiers.org/clinvar/289752 ^@ NM_000070.2(CAPN3):c.749A>G (p.Lys250Arg) http://identifiers.org/clinvar/289753 ^@ NM_004006.2(DMD):c.8000A>G (p.Asn2667Ser) http://identifiers.org/clinvar/289754 ^@ NM_001849.3(COL6A2):c.2995G>A (p.Glu999Lys) http://identifiers.org/clinvar/289755 ^@ NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser) http://identifiers.org/clinvar/289756 ^@ NM_033071.3(SYNE1):c.10807G>A (p.Val3603Met) http://identifiers.org/clinvar/289757 ^@ NM_001165928.3(DAG1):c.2580G>A (p.Ala860=) http://identifiers.org/clinvar/289758 ^@ NM_012470.3(TNPO3):c.906A>G (p.Leu302=) http://identifiers.org/clinvar/289759 ^@ NM_033071.3(SYNE1):c.20649+10A>G http://identifiers.org/clinvar/289760 ^@ NM_000070.2(CAPN3):c.2294T>A (p.Ile765Asn) http://identifiers.org/clinvar/289761 ^@ NM_001130987.1(DYSF):c.5625C>T (p.Ser1875=) http://identifiers.org/clinvar/289762 ^@ NM_000117.2(EMD):c.460A>G (p.Met154Val) http://identifiers.org/clinvar/289763 ^@ NM_182914.2(SYNE2):c.9430C>T (p.Leu3144Phe) http://identifiers.org/clinvar/289764 ^@ NM_001267550.2(TTN):c.49303G>A (p.Glu16435Lys) http://identifiers.org/clinvar/289765 ^@ NM_013382.5(POMT2):c.924-2A>G http://identifiers.org/clinvar/289766 ^@ NM_001849.3(COL6A2):c.224C>T (p.Pro75Leu) http://identifiers.org/clinvar/289767 ^@ NM_015295.2(SMCHD1):c.4879dupA (p.Thr1627Asnfs) http://identifiers.org/clinvar/289768 ^@ NM_001130987.1(DYSF):c.1576+1G>A http://identifiers.org/clinvar/289769 ^@ NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) http://identifiers.org/clinvar/289770 ^@ NM_213599.2(ANO5):c.1631-3C>G http://identifiers.org/clinvar/289771 ^@ NM_007171.3(POMT1):c.1776C>T (p.His592=) http://identifiers.org/clinvar/289772 ^@ NM_001130987.1(DYSF):c.847C>A (p.Arg283=) http://identifiers.org/clinvar/289773 ^@ NM_000023.3(SGCA):c.555C>A (p.Val185=) http://identifiers.org/clinvar/289774 ^@ NM_001130987.1(DYSF):c.4126G>A (p.Val1376Met) http://identifiers.org/clinvar/289775 ^@ NM_004369.3(COL6A3):c.1785C>T (p.Ile595=) http://identifiers.org/clinvar/289776 ^@ NM_182961.3(SYNE1):c.9530A>G (p.Asp3177Gly) http://identifiers.org/clinvar/289777 ^@ NM_182961.3(SYNE1):c.4313T>A (p.Ile1438Asn) http://identifiers.org/clinvar/289778 ^@ NM_001849.3(COL6A2):c.900+1G>C http://identifiers.org/clinvar/289779 ^@ NM_033071.3(SYNE1):c.24832G>C (p.Gly8278Arg) http://identifiers.org/clinvar/289780 ^@ NM_033071.3(SYNE1):c.3893A>G (p.Asp1298Gly) http://identifiers.org/clinvar/289781 ^@ NM_004369.3(COL6A3):c.3680-4G>A http://identifiers.org/clinvar/289782 ^@ NM_201381.2(PLEC):c.1167+6_1167+7insCAGTCGGTGAGGCAGCA http://identifiers.org/clinvar/289783 ^@ NM_033071.3(SYNE1):c.8413A>G (p.Arg2805Gly) http://identifiers.org/clinvar/289784 ^@ NM_001267550.2(TTN):c.44683delA (p.Ser14895Alafs) http://identifiers.org/clinvar/289785 ^@ NM_000070.2(CAPN3):c.2138A>C (p.Asn713Thr) http://identifiers.org/clinvar/289786 ^@ NM_013382.5(POMT2):c.1006C>T (p.His336Tyr) http://identifiers.org/clinvar/289787 ^@ NM_213599.2(ANO5):c.2383C>A (p.Pro795Thr) http://identifiers.org/clinvar/289788 ^@ NM_001849.3(COL6A2):c.955-1G>A http://identifiers.org/clinvar/289789 ^@ NM_001130987.1(DYSF):c.5704G>A (p.Gly1902Ser) http://identifiers.org/clinvar/289790 ^@ NM_004006.2(DMD):c.2636G>A (p.Arg879Gln) http://identifiers.org/clinvar/289791 ^@ NM_004006.2(DMD):c.2637G>T (p.Arg879=) http://identifiers.org/clinvar/289792 ^@ NM_004006.2(DMD):c.2638C>T (p.Leu880=) http://identifiers.org/clinvar/289793 ^@ NM_004369.3(COL6A3):c.707C>T (p.Thr236Ile) http://identifiers.org/clinvar/289794 ^@ NM_000023.3(SGCA):c.614C>A (p.Pro205His) http://identifiers.org/clinvar/289795 ^@ NM_007171.3(POMT1):c.2070-5T>C http://identifiers.org/clinvar/289796 ^@ NM_004006.2(DMD):c.4396A>C (p.Asn1466His) http://identifiers.org/clinvar/289799 ^@ NM_000266.3(NDP):c.69C>G (p.Asp23Glu) http://identifiers.org/clinvar/289800 ^@ NM_012186.2(FOXE3):c.135G>T (p.Ala45=) http://identifiers.org/clinvar/289801 ^@ NM_024649.4(BBS1):c.1508_1509delTTinsAC (p.Leu503His) http://identifiers.org/clinvar/289802 ^@ NM_001130823.2(DNMT1):c.469G>A (p.Ala157Thr) http://identifiers.org/clinvar/289803 ^@ NM_000726.4(CACNB4):c.33C>G (p.Thr11=) http://identifiers.org/clinvar/289804 ^@ NM_004006.2(DMD):c.2636_2638delGGCinsATT (p.Arg879His) http://identifiers.org/clinvar/289805 ^@ NM_000271.4(NPC1):c.873G>T (p.Trp291Cys) http://identifiers.org/clinvar/289806 ^@ NM_024408.3(NOTCH2):c.6052G>T (p.Ala2018Ser) http://identifiers.org/clinvar/289807 ^@ NM_024408.3(NOTCH2):c.956A>G (p.Asn319Ser) http://identifiers.org/clinvar/289808 ^@ NM_000271.4(NPC1):c.3592-7_3592-5delCTT http://identifiers.org/clinvar/289809 ^@ NM_004817.3(TJP2):c.919G>A (p.Gly307Arg) http://identifiers.org/clinvar/289810 ^@ NM_018849.2(ABCB4):c.717G>A (p.Ser239=) http://identifiers.org/clinvar/289811 ^@ NM_022436.2(ABCG5):c.1320T>A (p.Asn440Lys) http://identifiers.org/clinvar/289812 ^@ NM_000271.4(NPC1):c.3773C>T (p.Ala1258Val) http://identifiers.org/clinvar/289813 ^@ NM_003742.2(ABCB11):c.156G>A (p.Arg52=) http://identifiers.org/clinvar/289814 ^@ NM_138694.3(PKHD1):c.5478G>A (p.Ala1826=) http://identifiers.org/clinvar/289815 ^@ NM_022436.2(ABCG5):c.293C>G (p.Ala98Gly) http://identifiers.org/clinvar/289816 ^@ NC_000015.9:g.952_952delC http://identifiers.org/clinvar/289817 ^@ NM_019105.6(TNXB):c.211G>T (p.Val71Leu) http://identifiers.org/clinvar/289818 ^@ NM_005199.4(CHRNG):c.1381G>A (p.Gly461Arg) http://identifiers.org/clinvar/289819 ^@ NM_002618.3(PEX13):c.26C>G (p.Pro9Arg) http://identifiers.org/clinvar/289820 ^@ NM_000784.3(CYP27A1):c.1148T>A (p.Met383Lys) http://identifiers.org/clinvar/289821 ^@ NM_014425.4(INVS):c.3092-6delT http://identifiers.org/clinvar/289822 ^@ NM_002437.4(MPV17):c.409-1G>C http://identifiers.org/clinvar/289823 ^@ NM_138694.3(PKHD1):c.4169G>A (p.Arg1390Gln) http://identifiers.org/clinvar/289824 ^@ NM_138694.3(PKHD1):c.2134G>C (p.Val712Leu) http://identifiers.org/clinvar/289825 ^@ NM_001453.2(FOXC1):c.1349G>C (p.Gly450Ala) http://identifiers.org/clinvar/289826 ^@ NM_004817.3(TJP2):c.856_861dupAGCCGC (p.Arg287_Glu288insSerArg) http://identifiers.org/clinvar/289827 ^@ NM_002693.2(POLG):c.1171-9T>C http://identifiers.org/clinvar/289828 ^@ NM_001701.3(BAAT):c.9G>A (p.Gln3=) http://identifiers.org/clinvar/289829 ^@ NM_012254.2(SLC27A5):c.937C>T (p.Leu313=) http://identifiers.org/clinvar/289830 ^@ NM_001080522.2(CC2D2A):c.108G>A (p.Gln36=) http://identifiers.org/clinvar/289831 ^@ NM_000287.3(PEX6):c.617G>A (p.Gly206Glu) http://identifiers.org/clinvar/289832 ^@ NM_018668.4(VPS33B):c.122T>C (p.Ile41Thr) http://identifiers.org/clinvar/289833 ^@ NM_001131025.1(PEX5):c.371C>G (p.Ala124Gly) http://identifiers.org/clinvar/289834 ^@ NM_005881.3(BCKDK):c.1066A>T (p.Ser356Cys) http://identifiers.org/clinvar/289835 ^@ NM_032119.3(ADGRV1):c.357+5G>A http://identifiers.org/clinvar/289836 ^@ NM_001040142.1(SCN2A):c.5004C>T (p.Phe1668=) http://identifiers.org/clinvar/289837 ^@ NM_000548.4(TSC2):c.354C>G (p.Val118=) http://identifiers.org/clinvar/289838 ^@ NM_001083961.1(WDR62):c.37G>C (p.Asp13His) http://identifiers.org/clinvar/289839 ^@ NM_006516.2(SLC2A1):c.966_967delCG (p.Ser324Alafs) http://identifiers.org/clinvar/289840 ^@ NM_033071.3(SYNE1):c.4810-13G>A http://identifiers.org/clinvar/289841 ^@ NM_002977.3(SCN9A):c.2376T>C (p.Tyr792=) http://identifiers.org/clinvar/289842 ^@ NM_153026.2(PRICKLE1):c.2288G>A (p.Cys763Tyr) http://identifiers.org/clinvar/289843 ^@ NM_002977.3(SCN9A):c.2187T>G (p.Ile729Met) http://identifiers.org/clinvar/289844 ^@ NM_003482.3(KMT2D):c.5503C>T (p.Arg1835Cys) http://identifiers.org/clinvar/289845 ^@ NM_002397.4(MEF2C):c.1332C>T (p.His444=) http://identifiers.org/clinvar/289846 ^@ NM_201253.2(CRB1):c.2195G>C (p.Ser732Thr) http://identifiers.org/clinvar/289847 ^@ NM_001077182.2(FSCN2):c.48C>T (p.Leu16=) http://identifiers.org/clinvar/289848 ^@ NM_182894.2(VSX2):c.522C>T (p.Asp174=) http://identifiers.org/clinvar/289849 ^@ NM_000280.4(PAX6):c.52G>C (p.Gly18Arg) http://identifiers.org/clinvar/289850 ^@ NM_000290.3(PGAM2):c.310G>A (p.Ala104Thr) http://identifiers.org/clinvar/289851 ^@ NM_022081.5(HPS4):c.1857G>A (p.Pro619=) http://identifiers.org/clinvar/289852 ^@ NM_000061.2(BTK):c.142-8C>T http://identifiers.org/clinvar/289853 ^@ NM_030984.3(TBXAS1):c.995T>C (p.Ile332Thr) http://identifiers.org/clinvar/289854 ^@ NM_001015880.1(PAPSS2):c.1489G>A (p.Glu497Lys) http://identifiers.org/clinvar/289855 ^@ NM_001017420.2(ESCO2):c.738A>G (p.Val246=) http://identifiers.org/clinvar/289856 ^@ NM_004407.3(DMP1):c.929G>A (p.Arg310Lys) http://identifiers.org/clinvar/289857 ^@ NM_005220.2(DLX3):c.710A>G (p.Tyr237Cys) http://identifiers.org/clinvar/289858 ^@ NM_020436.4(SALL4):c.675G>A (p.Gln225=) http://identifiers.org/clinvar/289859 ^@ NM_001243246.1(P3H1):c.689C>T (p.Ala230Val) http://identifiers.org/clinvar/289860 ^@ NM_001844.4(COL2A1):c.2465delG (p.Gly822Valfs) http://identifiers.org/clinvar/289861 ^@ NM_001200.3(BMP2):c.323C>T (p.Thr108Ile) http://identifiers.org/clinvar/289862 ^@ NM_004260.3(RECQL4):c.1789C>T (p.Pro597Ser) http://identifiers.org/clinvar/289863 ^@ NM_005529.6(HSPG2):c.2585C>T (p.Pro862Leu) http://identifiers.org/clinvar/289864 ^@ NM_004239.4(TRIP11):c.4691A>C (p.Gln1564Pro) http://identifiers.org/clinvar/289865 ^@ NM_005529.6(HSPG2):c.1086G>A (p.Lys362=) http://identifiers.org/clinvar/289866 ^@ NM_000243.2(MEFV):c.1957C>T (p.Arg653Cys) http://identifiers.org/clinvar/289867 ^@ NM_001127670.3(KCNE1):c.108_109delCAinsGG (p.Ser37Gly) http://identifiers.org/clinvar/289868 ^@ NM_000169.2(GLA):c.195-1G>T http://identifiers.org/clinvar/289869 ^@ NM_001080522.2(CC2D2A):c.4179+1G>A http://identifiers.org/clinvar/289870 ^@ NM_017929.5(PEX26):c.786C>G (p.Leu262=) http://identifiers.org/clinvar/289871 ^@ NM_004817.3(TJP2):c.3432A>G (p.Lys1144=) http://identifiers.org/clinvar/289872 ^@ NM_080916.2(DGUOK):c.337T>C (p.Phe113Leu) http://identifiers.org/clinvar/289873 ^@ NM_000492.3(CFTR):c.1430C>A (p.Pro477His) http://identifiers.org/clinvar/289874 ^@ NM_014425.4(INVS):c.2454G>A (p.Ala818=) http://identifiers.org/clinvar/289875 ^@ NM_018006.4(TRMU):c.750T>A (p.Asn250Lys) http://identifiers.org/clinvar/289876 ^@ NM_018668.4(VPS33B):c.1207T>C (p.Leu403=) http://identifiers.org/clinvar/289877 ^@ NM_000492.3(CFTR):c.3382A>G (p.Arg1128Gly) http://identifiers.org/clinvar/289878 ^@ NM_004817.3(TJP2):c.2791G>A (p.Ala931Thr) http://identifiers.org/clinvar/289879 ^@ NM_000492.3(CFTR):c.332C>G (p.Pro111Arg) http://identifiers.org/clinvar/289880 ^@ NM_000543.4(SMPD1):c.762G>A (p.Leu254=) http://identifiers.org/clinvar/289881 ^@ NM_138694.3(PKHD1):c.5358C>T (p.Ser1786=) http://identifiers.org/clinvar/289882 ^@ NM_000463.2(UGT1A1):c.326T>C (p.Val109Ala) http://identifiers.org/clinvar/289883 ^@ NM_138694.3(PKHD1):c.281+3A>G http://identifiers.org/clinvar/289884 ^@ NM_012254.2(SLC27A5):c.842G>A (p.Arg281His) http://identifiers.org/clinvar/289885 ^@ NM_138694.3(PKHD1):c.4447G>A (p.Glu1483Lys) http://identifiers.org/clinvar/289886 ^@ NM_138694.3(PKHD1):c.5199C>T (p.Thr1733=) http://identifiers.org/clinvar/289887 ^@ NM_138694.3(PKHD1):c.2280-9G>A http://identifiers.org/clinvar/289888 ^@ NM_015102.4(NPHP4):c.2519G>A (p.Ser840Asn) http://identifiers.org/clinvar/289889 ^@ NM_018668.4(VPS33B):c.1658-7C>T http://identifiers.org/clinvar/289890 ^@ NM_138694.3(PKHD1):c.2825G>C (p.Gly942Ala) http://identifiers.org/clinvar/289891 ^@ NM_000023.3(SGCA):c.270C>T (p.Tyr90=) http://identifiers.org/clinvar/289892 ^@ NM_004369.3(COL6A3):c.8865C>T (p.Pro2955=) http://identifiers.org/clinvar/289893 ^@ NM_033380.2(COL4A5):c.3296C>T (p.Ser1099Phe) http://identifiers.org/clinvar/289894 ^@ NM_144612.6(LOXHD1):c.2863G>C (p.Glu955Gln) http://identifiers.org/clinvar/289895 ^@ NM_022124.5(CDH23):c.9500C>A (p.Thr3167Lys) http://identifiers.org/clinvar/289896 ^@ NM_144672.3(OTOA):c.462C>T (p.Gly154=) http://identifiers.org/clinvar/289897 ^@ NM_001145809.1(MYH14):c.1436C>A (p.Ala479Asp) http://identifiers.org/clinvar/289898 ^@ NM_032119.3(ADGRV1):c.14616A>G (p.Ala4872=) http://identifiers.org/clinvar/289899 ^@ NM_001199799.1(ILDR1):c.352C>T (p.Arg118Trp) http://identifiers.org/clinvar/289900 ^@ NM_006790.2(MYOT):c.96T>C (p.Ser32=) http://identifiers.org/clinvar/289901 ^@ NM_001849.3(COL6A2):c.2284_2285delAT (p.Met762Valfs) http://identifiers.org/clinvar/289902 ^@ NM_000328.2(RPGR):c.1387C>T (p.Gln463Ter) http://identifiers.org/clinvar/289903 ^@ NM_206933.2(USH2A):c.8393G>C (p.Gly2798Ala) http://identifiers.org/clinvar/289904 ^@ NM_206933.2(USH2A):c.4803A>T (p.Gln1601His) http://identifiers.org/clinvar/289905 ^@ NM_001142800.1(EYS):c.4829_4832delCATT (p.Ser1610Phefs) http://identifiers.org/clinvar/289906 ^@ NM_001142800.1(EYS):c.9286_9295delGTAAATATCG (p.Val3096Leufs) http://identifiers.org/clinvar/289907 ^@ NM_015404.3(WHRN):c.360C>T (p.Thr120=) http://identifiers.org/clinvar/289908 ^@ NM_012254.2(SLC27A5):c.1642C>T (p.Arg548Cys) http://identifiers.org/clinvar/289909 ^@ NM_000543.4(SMPD1):c.1165C>T (p.Arg389Cys) http://identifiers.org/clinvar/289910 ^@ NM_001458.4(FLNC):c.4880G>A (p.Arg1627His) http://identifiers.org/clinvar/289911 ^@ NM_001849.3(COL6A2):c.1969+4A>C http://identifiers.org/clinvar/289912 ^@ NM_000152.4(GAA):c.993G>A (p.Arg331=) http://identifiers.org/clinvar/289913 ^@ NM_001271208.1(NEB):c.3211A>C (p.Ile1071Leu) http://identifiers.org/clinvar/289914 ^@ NM_000540.2(RYR1):c.2037C>A (p.Thr679=) http://identifiers.org/clinvar/289915 ^@ NM_001130987.1(DYSF):c.5742C>T (p.Phe1914=) http://identifiers.org/clinvar/289916 ^@ NM_000303.2(PMM2):c.389C>G (p.Ser130Cys) http://identifiers.org/clinvar/289917 ^@ NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) http://identifiers.org/clinvar/289918 ^@ NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr) http://identifiers.org/clinvar/289919 ^@ NM_024301.4(FKRP):c.962_970dupCGCTGCGCG (p.Arg323_Glu324insAlaLeuArg) http://identifiers.org/clinvar/289920 ^@ NM_002547.2(OPHN1):c.1547A>G (p.Glu516Gly) http://identifiers.org/clinvar/289921 ^@ NM_000026.3(ADSL):c.986G>A (p.Arg329His) http://identifiers.org/clinvar/289922 ^@ NM_000601.5(HGF):c.2019T>C (p.Tyr673=) http://identifiers.org/clinvar/289923 ^@ NM_024915.3(GRHL2):c.1098+1G>A http://identifiers.org/clinvar/289924 ^@ NM_017617.4(NOTCH1):c.4698C>T (p.Pro1566=) http://identifiers.org/clinvar/289925 ^@ NM_017617.4(NOTCH1):c.825C>T (p.Gly275=) http://identifiers.org/clinvar/289926 ^@ NM_213674.1(TPM2):c.726C>T (p.Ala242=) http://identifiers.org/clinvar/289927 ^@ NM_182914.2(SYNE2):c.11729A>G (p.Lys3910Arg) http://identifiers.org/clinvar/289928 ^@ NM_000426.3(LAMA2):c.6345C>T (p.Pro2115=) http://identifiers.org/clinvar/289929 ^@ NM_182914.2(SYNE2):c.20382+9A>G http://identifiers.org/clinvar/289930 ^@ NM_017534.5(MYH2):c.3585G>A (p.Ala1195=) http://identifiers.org/clinvar/289931 ^@ NM_182914.2(SYNE2):c.16894A>G (p.Lys5632Glu) http://identifiers.org/clinvar/289932 ^@ NM_001101426.3(ISPD):c.382A>C (p.Arg128=) http://identifiers.org/clinvar/289933 ^@ NM_001849.3(COL6A2):c.2658C>T (p.Gly886=) http://identifiers.org/clinvar/289935 ^@ NM_001039523.2(CHRNA1):c.1214T>C (p.Met405Thr) http://identifiers.org/clinvar/289936 ^@ NM_001267550.2(TTN):c.16090C>T (p.Arg5364Cys) http://identifiers.org/clinvar/289937 ^@ NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) http://identifiers.org/clinvar/289938 ^@ NM_207361.5(FREM2):c.5059_5060delGAinsTC (p.Glu1687Ser) http://identifiers.org/clinvar/289939 ^@ NM_000489.4(ATRX):c.2629G>A (p.Asp877Asn) http://identifiers.org/clinvar/289940 ^@ NM_001040113.1(MYH11):c.101G>C (p.Arg34Thr) http://identifiers.org/clinvar/289941 ^@ NM_003036.3(SKI):c.970-7A>G http://identifiers.org/clinvar/289942 ^@ NM_000883.3(IMPDH1):c.159C>T (p.Asp53=) http://identifiers.org/clinvar/289943 ^@ NM_001558.3(IL10RA):c.721G>C (p.Ala241Pro) http://identifiers.org/clinvar/289944 ^@ NM_020984.3(CHAT):c.266G>A (p.Arg89His) http://identifiers.org/clinvar/289945 ^@ NM_020549.4(CHAT):c.1228G>A (p.Gly410Ser) http://identifiers.org/clinvar/289946 ^@ NM_004817.3(TJP2):c.498dupG (p.Arg167Alafs) http://identifiers.org/clinvar/289947 ^@ NM_001165927.1(MKS1):c.1090C>T (p.Pro364Ser) http://identifiers.org/clinvar/289948 ^@ NM_000543.4(SMPD1):c.1589G>C (p.Gly530Ala) http://identifiers.org/clinvar/289949 ^@ NM_000543.4(SMPD1):c.1561C>T (p.Leu521=) http://identifiers.org/clinvar/289950 ^@ NM_001701.3(BAAT):c.997A>G (p.Ser333Gly) http://identifiers.org/clinvar/289951 ^@ NM_005477.2(HCN4):c.*8C>T http://identifiers.org/clinvar/289952 ^@ NM_015166.3(MLC1):c.93C>T (p.Asp31=) http://identifiers.org/clinvar/289953 ^@ NM_153638.3(PANK2):c.280C>G (p.Arg94Gly) http://identifiers.org/clinvar/289954 ^@ NM_014363.5(SACS):c.7466C>A (p.Pro2489His) http://identifiers.org/clinvar/289955 ^@ NM_000153.3(GALC):c.1541T>C (p.Phe514Ser) http://identifiers.org/clinvar/289956 ^@ NM_005802.4(TOPORS):c.1795A>C (p.Ser599Arg) http://identifiers.org/clinvar/289957 ^@ NM_006915.2(RP2):c.593_594delAT (p.Tyr198Cysfs) http://identifiers.org/clinvar/289958 ^@ NM_033071.3(SYNE1):c.26062T>G (p.Ser8688Ala) http://identifiers.org/clinvar/289959 ^@ NM_182961.3(SYNE1):c.1730-7G>A http://identifiers.org/clinvar/289960 ^@ NM_001130987.1(DYSF):c.5138T>C (p.Phe1713Ser) http://identifiers.org/clinvar/289961 ^@ NM_001267550.2(TTN):c.90561delT (p.Thr30188Leufs) http://identifiers.org/clinvar/289962 ^@ NM_001927.3(DES):c.1286G>A (p.Arg429Gln) http://identifiers.org/clinvar/289963 ^@ NM_001130987.1(DYSF):c.4106A>G (p.Asn1369Ser) http://identifiers.org/clinvar/289964 ^@ NM_014363.5(SACS):c.11152G>A (p.Glu3718Lys) http://identifiers.org/clinvar/289965 ^@ NM_000123.3(ERCC5):c.2678+1G>A http://identifiers.org/clinvar/289966 ^@ NM_003737.3(DCHS1):c.4072G>A (p.Glu1358Lys) http://identifiers.org/clinvar/289967 ^@ NM_000083.2(CLCN1):c.180+3A>T http://identifiers.org/clinvar/289968 ^@ NM_080629.2(COL11A1):c.2261G>C (p.Gly754Ala) http://identifiers.org/clinvar/289969 ^@ NM_006767.3(LZTR1):c.1084C>T (p.Arg362Ter) http://identifiers.org/clinvar/289970 ^@ NM_022436.2(ABCG5):c.511G>A (p.Val171Ile) http://identifiers.org/clinvar/289971 ^@ NM_000543.4(SMPD1):c.283A>C (p.Lys95Gln) http://identifiers.org/clinvar/289972 ^@ NM_000466.2(PEX1):c.3044A>C (p.Glu1015Ala) http://identifiers.org/clinvar/289973 ^@ NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) http://identifiers.org/clinvar/289974 ^@ NM_003742.2(ABCB11):c.408C>T (p.Ser136=) http://identifiers.org/clinvar/289975 ^@ NM_000443.3(ABCB4):c.3838T>C (p.Ter1280Arg) http://identifiers.org/clinvar/289976 ^@ NM_000392.4(ABCC2):c.718A>G (p.Ser240Gly) http://identifiers.org/clinvar/289977 ^@ NM_015102.4(NPHP4):c.3385G>A (p.Val1129Met) http://identifiers.org/clinvar/289978 ^@ NM_138694.3(PKHD1):c.11123T>C (p.Met3708Thr) http://identifiers.org/clinvar/289979 ^@ NM_138694.3(PKHD1):c.2637G>A (p.Thr879=) http://identifiers.org/clinvar/289980 ^@ NM_024408.3(NOTCH2):c.7263T>A (p.Ser2421=) http://identifiers.org/clinvar/289981 ^@ NM_001173990.2(TMEM216):c.140T>C (p.Val47Ala) http://identifiers.org/clinvar/289982 ^@ NM_080916.2(DGUOK):c.256-7C>T http://identifiers.org/clinvar/289983 ^@ NM_000271.4(NPC1):c.2677C>T (p.Leu893=) http://identifiers.org/clinvar/289984 ^@ NM_000392.4(ABCC2):c.2499T>C (p.Val833=) http://identifiers.org/clinvar/289985 ^@ NM_000392.4(ABCC2):c.150C>T (p.His50=) http://identifiers.org/clinvar/289986 ^@ NM_000235.3(LIPA):c.398delC (p.Ser133Terfs) http://identifiers.org/clinvar/289987 ^@ NM_000271.4(NPC1):c.1224C>T (p.Leu408=) http://identifiers.org/clinvar/289988 ^@ NM_001127701.1(SERPINA1):c.334C>A (p.Pro112Thr) http://identifiers.org/clinvar/289989 ^@ NM_012254.2(SLC27A5):c.802C>G (p.Leu268Val) http://identifiers.org/clinvar/289990 ^@ NM_002693.2(POLG):c.24G>C (p.Lys8Asn) http://identifiers.org/clinvar/289991 ^@ NM_001039550.1(DNAJB2):c.808G>C (p.Gly270Arg) http://identifiers.org/clinvar/289992 ^@ NM_004006.2(DMD):c.8669-1G>C http://identifiers.org/clinvar/289993 ^@ NM_004006.2(DMD):c.10651_10652insCC (p.Gln3551Profs) http://identifiers.org/clinvar/289994 ^@ NM_022455.4(NSD1):c.6152-1G>A http://identifiers.org/clinvar/289995 ^@ NM_138694.3(PKHD1):c.9725G>A (p.Gly3242Asp) http://identifiers.org/clinvar/289996 ^@ NM_138694.3(PKHD1):c.2929A>G (p.Asn977Asp) http://identifiers.org/clinvar/289997 ^@ NM_201253.2(CRB1):c.2103C>G (p.Pro701=) http://identifiers.org/clinvar/289998 ^@ NM_003413.3(ZIC3):c.832C>T (p.Leu278=) http://identifiers.org/clinvar/289999 ^@ NM_000260.3(MYO7A):c.731G>A (p.Arg244His) http://identifiers.org/clinvar/290000 ^@ NM_001080463.1(DYNC2H1):c.12478-8C>G http://identifiers.org/clinvar/290001 ^@ NM_201253.2(CRB1):c.2272A>T (p.Ser758Cys) http://identifiers.org/clinvar/290002 ^@ NM_001080463.1(DYNC2H1):c.12930C>A (p.Phe4310Leu) http://identifiers.org/clinvar/290003 ^@ NM_178170.2(NEK8):c.294C>G (p.Ser98=) http://identifiers.org/clinvar/290004 ^@ NM_012301.3(MAGI2):c.1954C>A (p.Gln652Lys) http://identifiers.org/clinvar/290005 ^@ NM_014191.3(SCN8A):c.4877G>A (p.Arg1626His) http://identifiers.org/clinvar/290006 ^@ NM_006922.3(SCN3A):c.5469T>A (p.Pro1823=) http://identifiers.org/clinvar/290007 ^@ NM_020822.2(KCNT1):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/290008 ^@ NM_001458.4(FLNC):c.3506A>G (p.Lys1169Arg) http://identifiers.org/clinvar/290009 ^@ NM_033071.3(SYNE1):c.14742+8T>C http://identifiers.org/clinvar/290010 ^@ NM_213599.2(ANO5):c.1406G>A (p.Trp469Ter) http://identifiers.org/clinvar/290011 ^@ NM_001243766.1(POMGNT1):c.289C>T (p.Arg97Trp) http://identifiers.org/clinvar/290012 ^@ NM_001458.4(FLNC):c.1976T>G (p.Leu659Arg) http://identifiers.org/clinvar/290013 ^@ NM_020631.4(PLEKHG5):c.2431C>T (p.Arg811Cys) http://identifiers.org/clinvar/290014 ^@ NM_001927.3(DES):c.1411T>C (p.Ter471Gln) http://identifiers.org/clinvar/290015 ^@ NM_000426.3(LAMA2):c.2352T>G (p.Tyr784Ter) http://identifiers.org/clinvar/290016 ^@ NM_000036.2(AMPD1):c.1269C>G (p.Leu423=) http://identifiers.org/clinvar/290017 ^@ NM_004369.3(COL6A3):c.415G>A (p.Gly139Ser) http://identifiers.org/clinvar/290018 ^@ NM_033071.3(SYNE1):c.13023G>A (p.Met4341Ile) http://identifiers.org/clinvar/290019 ^@ NM_000540.2(RYR1):c.7608G>A (p.Leu2536=) http://identifiers.org/clinvar/290020 ^@ NM_001035.2(RYR2):c.10904A>G (p.Tyr3635Cys) http://identifiers.org/clinvar/290021 ^@ NM_000751.2(CHRND):c.497C>T (p.Ser166Phe) http://identifiers.org/clinvar/290022 ^@ NM_025114.3(CEP290):c.2668C>T (p.Gln890Ter) http://identifiers.org/clinvar/290023 ^@ NM_001853.3(COL9A3):c.113G>C (p.Gly38Ala) http://identifiers.org/clinvar/290024 ^@ NM_030632.2(ASXL3):c.873T>A (p.Asp291Glu) http://identifiers.org/clinvar/290027 ^@ NM_001130987.1(DYSF):c.3228+7C>T http://identifiers.org/clinvar/290028 ^@ NM_015295.2(SMCHD1):c.473G>A (p.Arg158His) http://identifiers.org/clinvar/290029 ^@ NM_000528.3(MAN2B1):c.2267+8dupG http://identifiers.org/clinvar/290030 ^@ NM_000255.3(MUT):c.1115T>C (p.Ile372Thr) http://identifiers.org/clinvar/290031 ^@ NM_000478.5(ALPL):c.1002C>T (p.Gly334=) http://identifiers.org/clinvar/290032 ^@ NM_000199.3(SGSH):c.701C>G (p.Ala234Gly) http://identifiers.org/clinvar/290033 ^@ NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) http://identifiers.org/clinvar/290034 ^@ NM_005609.3(PYGM):c.2311C>G (p.Arg771Gly) http://identifiers.org/clinvar/290035 ^@ NM_005609.3(PYGM):c.64G>A (p.Val22Met) http://identifiers.org/clinvar/290036 ^@ NM_021120.3(DLG3):c.357+16G>A http://identifiers.org/clinvar/290038 ^@ NM_001048166.1(STIL):c.1374C>G (p.His458Gln) http://identifiers.org/clinvar/290039 ^@ NM_003482.3(KMT2D):c.5526T>C (p.Asp1842=) http://identifiers.org/clinvar/290040 ^@ NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) http://identifiers.org/clinvar/290041 ^@ NM_030665.3(RAI1):c.195G>A (p.Thr65=) http://identifiers.org/clinvar/290042 ^@ NM_017890.4(VPS13B):c.11834G>A (p.Arg3945Gln) http://identifiers.org/clinvar/290043 ^@ NM_000489.4(ATRX):c.4239A>G (p.Glu1413=) http://identifiers.org/clinvar/290044 ^@ NM_000489.4(ATRX):c.1753G>T (p.Glu585Ter) http://identifiers.org/clinvar/290045 ^@ NM_002420.5(TRPM1):c.3004A>T (p.Ile1002Phe) http://identifiers.org/clinvar/290046 ^@ NM_025114.3(CEP290):c.6645+1G>A http://identifiers.org/clinvar/290047 ^@ NM_002098.5(GUCA1B):c.172G>A (p.Val58Ile) http://identifiers.org/clinvar/290048 ^@ NM_025074.6(FRAS1):c.3058C>T (p.Arg1020Cys) http://identifiers.org/clinvar/290049 ^@ NM_000280.4(PAX6):c.1137A>C (p.Thr379=) http://identifiers.org/clinvar/290050 ^@ NM_001845.5(COL4A1):c.3178C>T (p.Pro1060Ser) http://identifiers.org/clinvar/290051 ^@ NM_005334.2(HCFC1):c.2857-17_2857-15delCTC http://identifiers.org/clinvar/290052 ^@ NM_030753.4(WNT3):c.50C>G (p.Thr17Ser) http://identifiers.org/clinvar/290053 ^@ NM_002335.3(LRP5):c.2779G>A (p.Gly927Ser) http://identifiers.org/clinvar/290054 ^@ NM_001793.5(CDH3):c.1081G>T (p.Ala361Ser) http://identifiers.org/clinvar/290055 ^@ NM_005529.6(HSPG2):c.7235G>A (p.Ser2412Asn) http://identifiers.org/clinvar/290056 ^@ NM_000142.4(FGFR3):c.2183G>A (p.Arg728Gln) http://identifiers.org/clinvar/290057 ^@ NM_000444.5(PHEX):c.1917C>A (p.Thr639=) http://identifiers.org/clinvar/290058 ^@ NM_018965.3(TREM2):c.399G>T (p.Leu133=) http://identifiers.org/clinvar/290059 ^@ NM_004273.4(CHST3):c.202G>A (p.Ala68Thr) http://identifiers.org/clinvar/290060 ^@ NM_054027.4(ANKH):c.102G>A (p.Leu34=) http://identifiers.org/clinvar/290061 ^@ NM_012188.4(FOXI1):c.442C>G (p.Gln148Glu) http://identifiers.org/clinvar/290062 ^@ NM_002968.2(SALL1):c.484G>A (p.Gly162Ser) http://identifiers.org/clinvar/290063 ^@ NM_002473.5(MYH9):c.4818G>A (p.Ser1606=) http://identifiers.org/clinvar/290064 ^@ NM_024022.2(TMPRSS3):c.999C>T (p.Pro333=) http://identifiers.org/clinvar/290065 ^@ NM_001146077.1(CLDN14):c.321C>T (p.Cys107=) http://identifiers.org/clinvar/290066 ^@ NM_016239.3(MYO15A):c.6634G>A (p.Glu2212Lys) http://identifiers.org/clinvar/290067 ^@ NM_001031849.2(MASP1):c.910C>A (p.Leu304Ile) http://identifiers.org/clinvar/290068 ^@ NM_016239.3(MYO15A):c.6178-1G>A http://identifiers.org/clinvar/290069 ^@ NM_000060.4(BTD):c.261C>T (p.Asn87=) http://identifiers.org/clinvar/290071 ^@ NM_001267550.2(TTN):c.63298_63299insATGGTGGTGCACCGATCATTGGATATG (p.Tyr21099_Val21100insAspGlyGlyAlaProIleIleGlyTyr) http://identifiers.org/clinvar/290072 ^@ NM_001256850.1(TTN):c.30567C>T (p.Pro10189=) http://identifiers.org/clinvar/290073 ^@ NM_000137.2(FAH):c.412G>A (p.Gly138Arg) http://identifiers.org/clinvar/290074 ^@ NM_015102.4(NPHP4):c.1114G>A (p.Gly372Ser) http://identifiers.org/clinvar/290075 ^@ NM_000214.2(JAG1):c.992C>A (p.Pro331His) http://identifiers.org/clinvar/290076 ^@ NM_014251.2(SLC25A13):c.1680C>T (p.Ser560=) http://identifiers.org/clinvar/290077 ^@ NM_000214.2(JAG1):c.3515A>G (p.Lys1172Arg) http://identifiers.org/clinvar/290078 ^@ NM_000271.4(NPC1):c.1947+7_1947+8insCGGCG http://identifiers.org/clinvar/290079 ^@ NM_057174.2(PEX16):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/290080 ^@ NM_000287.3(PEX6):c.2700C>T (p.Asn900=) http://identifiers.org/clinvar/290081 ^@ NM_003742.2(ABCB11):c.1460G>A (p.Arg487His) http://identifiers.org/clinvar/290082 ^@ NM_000392.4(ABCC2):c.1032-3C>T http://identifiers.org/clinvar/290083 ^@ NM_022489.3(INF2):c.1274_1285delCACCCCCACCCC (p.Pro425_Pro428del) http://identifiers.org/clinvar/290084 ^@ NM_007171.3(POMT1):c.1765-7C>G http://identifiers.org/clinvar/290085 ^@ NM_001848.2(COL6A1):c.1553C>A (p.Thr518Asn) http://identifiers.org/clinvar/290086 ^@ NM_004369.3(COL6A3):c.8032G>A (p.Ala2678Thr) http://identifiers.org/clinvar/290087 ^@ NM_001128227.2(GNE):c.43G>C (p.Gly15Arg) http://identifiers.org/clinvar/290088 ^@ NM_001165928.3(DAG1):c.2039G>A (p.Arg680Gln) http://identifiers.org/clinvar/290089 ^@ NM_033071.3(SYNE1):c.10015G>A (p.Glu3339Lys) http://identifiers.org/clinvar/290090 ^@ NM_007171.3(POMT1):c.246C>T (p.Phe82=) http://identifiers.org/clinvar/290091 ^@ NM_182961.3(SYNE1):c.18658C>A (p.Arg6220Ser) http://identifiers.org/clinvar/290092 ^@ NM_003919.2(SGCE):c.1144T>C (p.Trp382Arg) http://identifiers.org/clinvar/290093 ^@ NM_000426.3(LAMA2):c.1032_1042delCAATTGTCATG (p.Cys344Trpfs) http://identifiers.org/clinvar/290094 ^@ NM_024301.4(FKRP):c.632C>T (p.Ser211Leu) http://identifiers.org/clinvar/290095 ^@ NM_001130987.1(DYSF):c.4874G>A (p.Arg1625Gln) http://identifiers.org/clinvar/290096 ^@ NM_001130987.1(DYSF):c.1271C>T (p.Pro424Leu) http://identifiers.org/clinvar/290097 ^@ NM_004006.2(DMD):c.5064G>T (p.Val1688=) http://identifiers.org/clinvar/290098 ^@ NM_001101426.3(ISPD):c.881A>G (p.Asp294Gly) http://identifiers.org/clinvar/290099 ^@ NM_182961.3(SYNE1):c.14808C>T (p.Ser4936=) http://identifiers.org/clinvar/290100 ^@ NM_033071.3(SYNE1):c.68A>G (p.Asp23Gly) http://identifiers.org/clinvar/290101 ^@ NM_000231.2(SGCG):c.161C>G (p.Thr54Arg) http://identifiers.org/clinvar/290102 ^@ NM_004369.3(COL6A3):c.8375A>G (p.Asp2792Gly) http://identifiers.org/clinvar/290103 ^@ NM_000231.2(SGCG):c.181A>T (p.Met61Leu) http://identifiers.org/clinvar/290104 ^@ NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) http://identifiers.org/clinvar/290106 ^@ NM_005045.3(RELN):c.9750C>T (p.Asp3250=) http://identifiers.org/clinvar/290107 ^@ NM_207346.2(TSEN54):c.1527C>T (p.Asp509=) http://identifiers.org/clinvar/290108 ^@ NM_000214.2(JAG1):c.1720+1delG http://identifiers.org/clinvar/290109 ^@ NM_138694.3(PKHD1):c.11818A>T (p.Asn3940Tyr) http://identifiers.org/clinvar/290110 ^@ NM_153818.1(PEX10):c.833G>A (p.Arg278His) http://identifiers.org/clinvar/290111 ^@ NM_000137.2(FAH):c.715A>T (p.Ile239Phe) http://identifiers.org/clinvar/290112 ^@ NM_014251.2(SLC25A13):c.1506G>A (p.Pro502=) http://identifiers.org/clinvar/290113 ^@ NM_000426.3(LAMA2):c.8211A>C (p.Pro2737=) http://identifiers.org/clinvar/290114 ^@ NM_000540.2(RYR1):c.13547A>G (p.Glu4516Gly) http://identifiers.org/clinvar/290115 ^@ NM_001849.3(COL6A2):c.567C>T (p.Ala189=) http://identifiers.org/clinvar/290116 ^@ NM_001130987.1(DYSF):c.1518C>A (p.Ile506=) http://identifiers.org/clinvar/290117 ^@ NM_000540.2(RYR1):c.4038C>A (p.Asn1346Lys) http://identifiers.org/clinvar/290118 ^@ NM_000036.2(AMPD1):c.892A>G (p.Lys298Glu) http://identifiers.org/clinvar/290119 ^@ NM_015384.4(NIPBL):c.6082C>T (p.Gln2028Ter) http://identifiers.org/clinvar/290120 ^@ NM_003647.2(DGKE):c.35C>T (p.Pro12Leu) http://identifiers.org/clinvar/290121 ^@ NM_024426.4(WT1):c.1339+5_1339+6delGT http://identifiers.org/clinvar/290122 ^@ NM_004646.3(NPHS1):c.658T>G (p.Ser220Ala) http://identifiers.org/clinvar/290123 ^@ NM_016341.3(PLCE1):c.4935G>A (p.Leu1645=) http://identifiers.org/clinvar/290124 ^@ NM_005676.4(RBM10):c.1104A>G (p.Pro368=) http://identifiers.org/clinvar/290125 ^@ NM_005633.3(SOS1):c.2728G>C (p.Asp910His) http://identifiers.org/clinvar/290126 ^@ NM_000553.4(WRN):c.747C>T (p.Asp249=) http://identifiers.org/clinvar/290127 ^@ NM_005633.3(SOS1):c.1820T>C (p.Ile607Thr) http://identifiers.org/clinvar/290128 ^@ NM_080605.3(B3GALT6):c.699C>T (p.Asp233=) http://identifiers.org/clinvar/290129 ^@ NM_015311.2(OBSL1):c.580C>T (p.Leu194=) http://identifiers.org/clinvar/290130 ^@ NM_138694.3(PKHD1):c.7282G>C (p.Asp2428His) http://identifiers.org/clinvar/290131 ^@ NM_018849.2(ABCB4):c.910G>T (p.Ala304Ser) http://identifiers.org/clinvar/290132 ^@ NM_000214.2(JAG1):c.1146C>T (p.Asn382=) http://identifiers.org/clinvar/290133 ^@ NM_003742.2(ABCB11):c.2296G>A (p.Gly766Arg) http://identifiers.org/clinvar/290134 ^@ NM_000271.4(NPC1):c.688_693delTCTGTG (p.Ser230_Val231del) http://identifiers.org/clinvar/290135 ^@ NM_138694.3(PKHD1):c.5909G>A (p.Gly1970Glu) http://identifiers.org/clinvar/290136 ^@ NM_000780.3(CYP7A1):c.909-4A>C http://identifiers.org/clinvar/290137 ^@ NM_000780.3(CYP7A1):c.1357G>A (p.Glu453Lys) http://identifiers.org/clinvar/290138 ^@ NM_007171.3(POMT1):c.2153C>G (p.Pro718Arg) http://identifiers.org/clinvar/290139 ^@ NM_182961.3(SYNE1):c.18404A>G (p.Gln6135Arg) http://identifiers.org/clinvar/290140 ^@ NM_004006.2(DMD):c.5464G>A (p.Gly1822Ser) http://identifiers.org/clinvar/290141 ^@ NM_001130987.1(DYSF):c.1167delC (p.Ser390Leufs) http://identifiers.org/clinvar/290142 ^@ NM_001101426.3(ISPD):c.261A>G (p.Val87=) http://identifiers.org/clinvar/290143 ^@ NM_001130987.1(DYSF):c.2810G>A (p.Arg937His) http://identifiers.org/clinvar/290144 ^@ NM_004006.2(DMD):c.4072-3T>C http://identifiers.org/clinvar/290145 ^@ NM_015295.2(SMCHD1):c.994A>G (p.Ile332Val) http://identifiers.org/clinvar/290146 ^@ NM_015295.2(SMCHD1):c.2338G>A (p.Glu780Lys) http://identifiers.org/clinvar/290147 ^@ NM_004006.2(DMD):c.4773T>C (p.Asp1591=) http://identifiers.org/clinvar/290148 ^@ NM_172244.2(SGCD):c.748C>G (p.Pro250Ala) http://identifiers.org/clinvar/290149 ^@ NM_012470.3(TNPO3):c.1782G>A (p.Lys594=) http://identifiers.org/clinvar/290150 ^@ NM_213599.2(ANO5):c.1434A>C (p.Val478=) http://identifiers.org/clinvar/290151 ^@ NM_004369.3(COL6A3):c.8161T>G (p.Tyr2721Asp) http://identifiers.org/clinvar/290152 ^@ NM_015295.2(SMCHD1):c.5527G>A (p.Ala1843Thr) http://identifiers.org/clinvar/290153 ^@ NM_015295.2(SMCHD1):c.5416G>A (p.Asp1806Asn) http://identifiers.org/clinvar/290154 ^@ NM_033071.3(SYNE1):c.9828+6G>A http://identifiers.org/clinvar/290155 ^@ NM_001927.3(DES):c.-7C>G http://identifiers.org/clinvar/290156 ^@ NM_001243766.1(POMGNT1):c.452C>T (p.Thr151Met) http://identifiers.org/clinvar/290157 ^@ NM_000117.2(EMD):c.466G>C (p.Gly156Arg) http://identifiers.org/clinvar/290158 ^@ NM_004369.3(COL6A3):c.7357G>A (p.Glu2453Lys) http://identifiers.org/clinvar/290159 ^@ NM_004369.3(COL6A3):c.592T>G (p.Phe198Val) http://identifiers.org/clinvar/290160 ^@ NM_004006.2(DMD):c.5933G>A (p.Arg1978His) http://identifiers.org/clinvar/290161 ^@ NM_004369.3(COL6A3):c.786C>T (p.Leu262=) http://identifiers.org/clinvar/290162 ^@ NM_000152.4(GAA):c.1560C>T (p.Asn520=) http://identifiers.org/clinvar/290163 ^@ NM_004006.2(DMD):c.2176G>T (p.Val726Phe) http://identifiers.org/clinvar/290164 ^@ NM_015295.2(SMCHD1):c.3718G>C (p.Glu1240Gln) http://identifiers.org/clinvar/290165 ^@ NM_004369.3(COL6A3):c.3837C>A (p.Asp1279Glu) http://identifiers.org/clinvar/290166 ^@ NM_001848.2(COL6A1):c.1532A>G (p.Asp511Gly) http://identifiers.org/clinvar/290167 ^@ NM_004369.3(COL6A3):c.2303G>A (p.Arg768His) http://identifiers.org/clinvar/290168 ^@ NM_001243766.1(POMGNT1):c.664G>A (p.Gly222Arg) http://identifiers.org/clinvar/290169 ^@ NM_058246.3(DNAJB6):c.862G>A (p.Ala288Thr) http://identifiers.org/clinvar/290170 ^@ NM_001130987.1(DYSF):c.*107T>A http://identifiers.org/clinvar/290171 ^@ NM_033071.3(SYNE1):c.2508C>T (p.Asp836=) http://identifiers.org/clinvar/290172 ^@ NM_182961.3(SYNE1):c.18570G>A (p.Met6190Ile) http://identifiers.org/clinvar/290173 ^@ NM_015295.2(SMCHD1):c.4719+1G>A http://identifiers.org/clinvar/290174 ^@ NM_001101426.3(ISPD):c.1301C>T (p.Ala434Val) http://identifiers.org/clinvar/290175 ^@ NM_001159702.2(FHL1):c.697A>G (p.Thr233Ala) http://identifiers.org/clinvar/290176 ^@ NM_000231.2(SGCG):c.196-6delT http://identifiers.org/clinvar/290177 ^@ NM_024301.4(FKRP):c.1441C>G (p.Pro481Ala) http://identifiers.org/clinvar/290178 ^@ NM_001130987.1(DYSF):c.2159C>T (p.Thr720Met) http://identifiers.org/clinvar/290179 ^@ NM_004369.3(COL6A3):c.3760C>T (p.Leu1254Phe) http://identifiers.org/clinvar/290180 ^@ NM_033071.3(SYNE1):c.14955dupA (p.Ala4986Serfs) http://identifiers.org/clinvar/290181 ^@ NM_033071.3(SYNE1):c.1207C>G (p.Leu403Val) http://identifiers.org/clinvar/290182 ^@ NM_182961.3(SYNE1):c.9655G>A (p.Val3219Ile) http://identifiers.org/clinvar/290183 ^@ NM_004006.2(DMD):c.1183C>T (p.Arg395Trp) http://identifiers.org/clinvar/290184 ^@ NM_004006.2(DMD):c.4049G>A (p.Arg1350His) http://identifiers.org/clinvar/290185 ^@ NM_004369.3(COL6A3):c.7590G>A (p.Val2530=) http://identifiers.org/clinvar/290186 ^@ NM_000152.4(GAA):c.1188C>G (p.Phe396Leu) http://identifiers.org/clinvar/290187 ^@ NM_001130987.1(DYSF):c.4982C>T (p.Thr1661Met) http://identifiers.org/clinvar/290188 ^@ NM_004369.3(COL6A3):c.374T>C (p.Ile125Thr) http://identifiers.org/clinvar/290189 ^@ NM_006790.2(MYOT):c.34C>G (p.Gln12Glu) http://identifiers.org/clinvar/290190 ^@ NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe) http://identifiers.org/clinvar/290191 ^@ NM_001159702.2(FHL1):c.760C>T (p.Arg254Cys) http://identifiers.org/clinvar/290192 ^@ NM_001165928.3(DAG1):c.1051A>G (p.Thr351Ala) http://identifiers.org/clinvar/290193 ^@ NM_004369.3(COL6A3):c.3934G>A (p.Val1312Met) http://identifiers.org/clinvar/290194 ^@ NM_001849.3(COL6A2):c.2748C>T (p.His916=) http://identifiers.org/clinvar/290195 ^@ NM_001849.3(COL6A2):c.2880G>A (p.Ser960=) http://identifiers.org/clinvar/290196 ^@ NM_001128227.2(GNE):c.577C>T (p.Arg193Cys) http://identifiers.org/clinvar/290197 ^@ NM_213599.2(ANO5):c.2725G>A (p.Ala909Thr) http://identifiers.org/clinvar/290198 ^@ NM_003494.3(DYSF):c.792+1G>A http://identifiers.org/clinvar/290199 ^@ NM_001130987.1(DYSF):c.2103C>G (p.Asp701Glu) http://identifiers.org/clinvar/290200 ^@ NM_004006.2(DMD):c.7130C>T (p.Pro2377Leu) http://identifiers.org/clinvar/290201 ^@ NM_004369.3(COL6A3):c.1587A>G (p.Leu529=) http://identifiers.org/clinvar/290202 ^@ NM_001130987.1(DYSF):c.4387+2T>A http://identifiers.org/clinvar/290203 ^@ NM_182961.3(SYNE1):c.17533G>A (p.Val5845Met) http://identifiers.org/clinvar/290204 ^@ NM_001130987.1(DYSF):c.2217-1G>T http://identifiers.org/clinvar/290205 ^@ NM_013382.5(POMT2):c.84C>T (p.Ala28=) http://identifiers.org/clinvar/290206 ^@ NM_004006.2(DMD):c.6140A>G (p.Gln2047Arg) http://identifiers.org/clinvar/290207 ^@ NM_033071.3(SYNE1):c.18298A>C (p.Arg6100=) http://identifiers.org/clinvar/290208 ^@ NM_182961.3(SYNE1):c.17167C>T (p.Gln5723Ter) http://identifiers.org/clinvar/290209 ^@ NM_003494.3(DYSF):c.661C>T (p.Gln221Ter) http://identifiers.org/clinvar/290210 ^@ NM_033071.3(SYNE1):c.17612G>A (p.Arg5871His) http://identifiers.org/clinvar/290211 ^@ NM_000023.3(SGCA):c.559C>T (p.Leu187Phe) http://identifiers.org/clinvar/290212 ^@ NM_001927.3(DES):c.1180G>A (p.Val394Met) http://identifiers.org/clinvar/290213 ^@ NM_001849.3(COL6A2):c.2687A>C (p.His896Pro) http://identifiers.org/clinvar/290214 ^@ NM_003494.3(DYSF):c.1642dupG (p.Glu548Glyfs) http://identifiers.org/clinvar/290215 ^@ NM_006731.2(FKTN):c.703C>A (p.Pro235Thr) http://identifiers.org/clinvar/290216 ^@ NM_012210.3(TRIM32):c.90G>A (p.Glu30=) http://identifiers.org/clinvar/290217 ^@ NM_024301.4(FKRP):c.319G>T (p.Ala107Ser) http://identifiers.org/clinvar/290218 ^@ NM_001079802.1(FKTN):c.1021C>T (p.Pro341Ser) http://identifiers.org/clinvar/290219 ^@ NM_001128227.2(GNE):c.1327G>A (p.Val443Ile) http://identifiers.org/clinvar/290220 ^@ NM_182961.3(SYNE1):c.20183G>A (p.Arg6728His) http://identifiers.org/clinvar/290221 ^@ NM_003494.3(DYSF):c.899delA (p.Glu300Glyfs) http://identifiers.org/clinvar/290222 ^@ NM_003494.3(DYSF):c.967C>T (p.Leu323Phe) http://identifiers.org/clinvar/290223 ^@ NM_000152.4(GAA):c.664G>A (p.Val222Met) http://identifiers.org/clinvar/290224 ^@ NM_001128227.2(GNE):c.2098G>A (p.Gly700Arg) http://identifiers.org/clinvar/290225 ^@ NM_000152.4(GAA):c.1123C>T (p.Arg375Cys) http://identifiers.org/clinvar/290226 ^@ NM_004369.3(COL6A3):c.7461G>A (p.Leu2487=) http://identifiers.org/clinvar/290227 ^@ NM_033071.3(SYNE1):c.416A>G (p.Tyr139Cys) http://identifiers.org/clinvar/290228 ^@ NM_001128227.2(GNE):c.1156T>C (p.Tyr386His) http://identifiers.org/clinvar/290229 ^@ NM_001130987.1(DYSF):c.2088delG (p.Ile699Leufs) http://identifiers.org/clinvar/290230 ^@ NM_182961.3(SYNE1):c.20160G>C (p.Glu6720Asp) http://identifiers.org/clinvar/290231 ^@ NM_004369.3(COL6A3):c.6973C>A (p.Pro2325Thr) http://identifiers.org/clinvar/290232 ^@ NM_182961.3(SYNE1):c.16524C>G (p.His5508Gln) http://identifiers.org/clinvar/290233 ^@ NM_182961.3(SYNE1):c.21436C>T (p.Leu7146Phe) http://identifiers.org/clinvar/290234 ^@ NM_000231.2(SGCG):c.411T>G (p.Asn137Lys) http://identifiers.org/clinvar/290235 ^@ NM_000231.2(SGCG):c.275C>A (p.Ala92Asp) http://identifiers.org/clinvar/290237 ^@ NM_001458.4(FLNC):c.4576C>T (p.Arg1526Cys) http://identifiers.org/clinvar/290238 ^@ NM_004525.2(LRP2):c.10538C>A (p.Ser3513Tyr) http://identifiers.org/clinvar/290239 ^@ NM_004525.2(LRP2):c.2511C>T (p.Ala837=) http://identifiers.org/clinvar/290241 ^@ NM_014795.3(ZEB2):c.3241T>A (p.Cys1081Ser) http://identifiers.org/clinvar/290242 ^@ NM_014780.4(CUL7):c.2848A>T (p.Lys950Ter) http://identifiers.org/clinvar/290243 ^@ NM_000169.2(GLA):c.285G>A (p.Trp95Ter) http://identifiers.org/clinvar/290244 ^@ NM_015072.4(TTLL5):c.1435C>T (p.Arg479Ter) http://identifiers.org/clinvar/290245 ^@ NM_178172.5(GPIHBP1):c.295G>A (p.Glu99Lys) http://identifiers.org/clinvar/290246 ^@ NM_001199107.1(TBC1D24):c.13G>C (p.Gly5Arg) http://identifiers.org/clinvar/290247 ^@ NM_173630.3(RTTN):c.1676A>C (p.Asp559Ala) http://identifiers.org/clinvar/290248 ^@ NM_015474.3(SAMHD1):c.1832G>A (p.Arg611Gln) http://identifiers.org/clinvar/290249 ^@ NM_001849.3(COL6A2):c.1751delC (p.Pro584Leufs) http://identifiers.org/clinvar/290250 ^@ NM_001849.3(COL6A2):c.2351G>C (p.Arg784Pro) http://identifiers.org/clinvar/290251 ^@ NM_001849.3(COL6A2):c.802-2A>G http://identifiers.org/clinvar/290252 ^@ NM_033071.3(SYNE1):c.8589C>G (p.Leu2863=) http://identifiers.org/clinvar/290253 ^@ NM_012470.3(TNPO3):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/290254 ^@ NM_000023.3(SGCA):c.312G>A (p.Glu104=) http://identifiers.org/clinvar/290255 ^@ NM_033071.3(SYNE1):c.10470C>T (p.Ala3490=) http://identifiers.org/clinvar/290256 ^@ NM_004369.3(COL6A3):c.4677C>T (p.Phe1559=) http://identifiers.org/clinvar/290257 ^@ NM_003494.3(DYSF):c.2203C>A (p.His735Asn) http://identifiers.org/clinvar/290258 ^@ NM_182961.3(SYNE1):c.21285C>T (p.Asp7095=) http://identifiers.org/clinvar/290259 ^@ NM_000117.2(EMD):c.512C>A (p.Ser171Ter) http://identifiers.org/clinvar/290260 ^@ NM_006731.2(FKTN):c.411C>T (p.Cys137=) http://identifiers.org/clinvar/290261 ^@ NM_004006.2(DMD):c.4312C>T (p.Gln1438Ter) http://identifiers.org/clinvar/290262 ^@ NM_001130987.1(DYSF):c.1668C>A (p.Pro556=) http://identifiers.org/clinvar/290263 ^@ NM_182961.3(SYNE1):c.23146-7dupT http://identifiers.org/clinvar/290264 ^@ NM_000070.2(CAPN3):c.433C>G (p.Leu145Val) http://identifiers.org/clinvar/290265 ^@ NM_000070.2(CAPN3):c.694A>C (p.Thr232Pro) http://identifiers.org/clinvar/290266 ^@ NM_000152.4(GAA):c.1823G>A (p.Arg608Gln) http://identifiers.org/clinvar/290267 ^@ NM_000070.2(CAPN3):c.725G>A (p.Arg242Lys) http://identifiers.org/clinvar/290268 ^@ NM_033071.3(SYNE1):c.5191T>C (p.Phe1731Leu) http://identifiers.org/clinvar/290269 ^@ NM_033071.3(SYNE1):c.4492C>G (p.Gln1498Glu) http://identifiers.org/clinvar/290270 ^@ NM_004006.2(DMD):c.3413G>A (p.Trp1138Ter) http://identifiers.org/clinvar/290271 ^@ NM_000152.4(GAA):c.249C>T (p.Asp83=) http://identifiers.org/clinvar/290272 ^@ NM_004006.2(DMD):c.4899G>T (p.Glu1633Asp) http://identifiers.org/clinvar/290273 ^@ NM_015295.2(SMCHD1):c.5625C>T (p.Gly1875=) http://identifiers.org/clinvar/290274 ^@ NM_001165928.3(DAG1):c.1774G>A (p.Glu592Lys) http://identifiers.org/clinvar/290275 ^@ NM_182961.3(SYNE1):c.15489G>A (p.Glu5163=) http://identifiers.org/clinvar/290276 ^@ NM_004656.3(BAP1):c.961G>A (p.Ala321Thr) http://identifiers.org/clinvar/290277 ^@ NM_000492.3(CFTR):c.1499G>A (p.Gly500Asp) http://identifiers.org/clinvar/290278 ^@ NM_000145.3(FSHR):c.312G>A (p.Lys104=) http://identifiers.org/clinvar/290279 ^@ NM_000155.3(GALT):c.513delT (p.Phe171Leufs) http://identifiers.org/clinvar/290280 ^@ NM_001243766.1(POMGNT1):c.269G>A (p.Arg90His) http://identifiers.org/clinvar/290281 ^@ NM_213599.2(ANO5):c.2446G>A (p.Glu816Lys) http://identifiers.org/clinvar/290282 ^@ NM_182961.3(SYNE1):c.24781C>G (p.Leu8261Val) http://identifiers.org/clinvar/290283 ^@ NM_003494.3(DYSF):c.1517C>G (p.Ser506Ter) http://identifiers.org/clinvar/290284 ^@ NM_001130987.1(DYSF):c.4462C>T (p.Gln1488Ter) http://identifiers.org/clinvar/290285 ^@ NM_013382.5(POMT2):c.1835G>T (p.Gly612Val) http://identifiers.org/clinvar/290286 ^@ NM_001848.2(COL6A1):c.2793G>A (p.Ser931=) http://identifiers.org/clinvar/290287 ^@ NM_033071.3(SYNE1):c.15773A>C (p.Glu5258Ala) http://identifiers.org/clinvar/290288 ^@ NM_000023.3(SGCA):c.1133C>T (p.Ala378Val) http://identifiers.org/clinvar/290289 ^@ NM_012470.3(TNPO3):c.2572T>C (p.Trp858Arg) http://identifiers.org/clinvar/290290 ^@ NM_004006.2(DMD):c.10465C>T (p.Arg3489Cys) http://identifiers.org/clinvar/290291 ^@ NM_001267550.2(TTN):c.102798_102800delTAA (p.Asn34266del) http://identifiers.org/clinvar/290292 ^@ NM_001267550.2(TTN):c.39834delG (p.Lys13279Argfs) http://identifiers.org/clinvar/290293 ^@ NM_000070.2(CAPN3):c.2431G>A (p.Val811Ile) http://identifiers.org/clinvar/290294 ^@ NM_033071.3(SYNE1):c.24429+9C>A http://identifiers.org/clinvar/290295 ^@ NM_201384.2(PLEC):c.10602C>T (p.Pro3534=) http://identifiers.org/clinvar/290296 ^@ NM_000070.2(CAPN3):c.1863dupA (p.Glu622Argfs) http://identifiers.org/clinvar/290297 ^@ NM_004369.3(COL6A3):c.6040G>T (p.Asp2014Tyr) http://identifiers.org/clinvar/290298 ^@ NM_001849.3(COL6A2):c.2349G>A (p.Val783=) http://identifiers.org/clinvar/290299 ^@ NM_000152.4(GAA):c.412C>G (p.Leu138Val) http://identifiers.org/clinvar/290300 ^@ NM_015295.2(SMCHD1):c.4898T>G (p.Leu1633Ter) http://identifiers.org/clinvar/290301 ^@ NM_001927.3(DES):c.768A>G (p.Glu256=) http://identifiers.org/clinvar/290302 ^@ NM_015295.2(SMCHD1):c.5175G>T (p.Lys1725Asn) http://identifiers.org/clinvar/290303 ^@ NM_012470.3(TNPO3):c.234C>T (p.Leu78=) http://identifiers.org/clinvar/290304 ^@ NM_007171.3(POMT1):c.1260C>G (p.Pro420=) http://identifiers.org/clinvar/290305 ^@ NM_201382.3(PLEC):c.1624G>A (p.Ala542Thr) http://identifiers.org/clinvar/290306 ^@ NM_201384.2(PLEC):c.5556G>A (p.Ala1852=) http://identifiers.org/clinvar/290307 ^@ NM_004006.2(DMD):c.5942C>G (p.Thr1981Arg) http://identifiers.org/clinvar/290308 ^@ NM_003673.3(TCAP):c.43_49dupTGTGAGC (p.Arg17Leufs) http://identifiers.org/clinvar/290309 ^@ NM_001130987.1(DYSF):c.2217-2A>G http://identifiers.org/clinvar/290310 ^@ NM_001130987.1(DYSF):c.5200C>T (p.Gln1734Ter) http://identifiers.org/clinvar/290311 ^@ NM_001267550.2(TTN):c.5539C>T (p.Pro1847Ser) http://identifiers.org/clinvar/290312 ^@ NM_012470.3(TNPO3):c.318G>A (p.Thr106=) http://identifiers.org/clinvar/290313 ^@ NM_001849.3(COL6A2):c.1702C>T (p.Pro568Ser) http://identifiers.org/clinvar/290314 ^@ NM_001004334.3(GPR179):c.4217dupA (p.Gln1407Alafs) http://identifiers.org/clinvar/290315 ^@ NM_003159.2(CDKL5):c.1365_1366insA (p.Gly456Argfs) http://identifiers.org/clinvar/290316 ^@ NM_000492.3(CFTR):c.4387C>T (p.Gln1463Ter) http://identifiers.org/clinvar/290317 ^@ NM_017890.4(VPS13B):c.3255G>A (p.Leu1085=) http://identifiers.org/clinvar/290318 ^@ NM_000478.5(ALPL):c.1479C>T (p.Asn493=) http://identifiers.org/clinvar/290319 ^@ NM_001031681.2(CTNS):c.355C>T (p.Arg119Cys) http://identifiers.org/clinvar/290320 ^@ NM_000263.3(NAGLU):c.1515C>T (p.Ser505=) http://identifiers.org/clinvar/290321 ^@ NM_000255.3(MUT):c.1125G>A (p.Met375Ile) http://identifiers.org/clinvar/290322 ^@ NM_004328.4(BCS1L):c.201C>T (p.Leu67=) http://identifiers.org/clinvar/290323 ^@ NM_206828.3(NLRP7):c.2788A>T (p.Asn930Tyr) http://identifiers.org/clinvar/290324 ^@ NM_001360.2(DHCR7):c.658A>C (p.Met220Leu) http://identifiers.org/clinvar/290325 ^@ NM_012210.3(TRIM32):c.464G>A (p.Arg155His) http://identifiers.org/clinvar/290326 ^@ NM_015295.2(SMCHD1):c.4153G>T (p.Gly1385Cys) http://identifiers.org/clinvar/290327 ^@ NM_000152.4(GAA):c.247G>A (p.Asp83Asn) http://identifiers.org/clinvar/290328 ^@ NM_033071.3(SYNE1):c.24847C>G (p.Leu8283Val) http://identifiers.org/clinvar/290329 ^@ NM_213599.2(ANO5):c.653A>G (p.Tyr218Cys) http://identifiers.org/clinvar/290330 ^@ NM_182961.3(SYNE1):c.6428A>G (p.Asp2143Gly) http://identifiers.org/clinvar/290331 ^@ NM_015295.2(SMCHD1):c.5787A>G (p.Gln1929=) http://identifiers.org/clinvar/290332 ^@ NM_004006.2(DMD):c.9033G>A (p.Pro3011=) http://identifiers.org/clinvar/290333 ^@ NM_004369.3(COL6A3):c.1035G>A (p.Gly345=) http://identifiers.org/clinvar/290334 ^@ NM_000070.2(CAPN3):c.2119G>C (p.Asp707His) http://identifiers.org/clinvar/290335 ^@ NM_000070.2(CAPN3):c.398C>T (p.Ala133Val) http://identifiers.org/clinvar/290336 ^@ NM_033071.3(SYNE1):c.6545T>C (p.Val2182Ala) http://identifiers.org/clinvar/290337 ^@ NM_004369.3(COL6A3):c.3371C>T (p.Ala1124Val) http://identifiers.org/clinvar/290338 ^@ NM_033071.3(SYNE1):c.9848A>T (p.Asp3283Val) http://identifiers.org/clinvar/290339 ^@ NM_201384.2(PLEC):c.6575G>A (p.Arg2192Gln) http://identifiers.org/clinvar/290340 ^@ NM_033071.3(SYNE1):c.12445G>A (p.Asp4149Asn) http://identifiers.org/clinvar/290341 ^@ NM_001849.3(COL6A2):c.1817-4_1817-3dupCC http://identifiers.org/clinvar/290342 ^@ NM_001267550.2(TTN):c.67522T>A (p.Tyr22508Asn) http://identifiers.org/clinvar/290343 ^@ NM_001849.3(COL6A2):c.1356C>T (p.Pro452=) http://identifiers.org/clinvar/290344 ^@ NM_000231.2(SGCG):c.142G>A (p.Val48Ile) http://identifiers.org/clinvar/290345 ^@ NM_001130987.1(DYSF):c.3493G>C (p.Asp1165His) http://identifiers.org/clinvar/290346 ^@ NM_033071.3(SYNE1):c.11886C>T (p.His3962=) http://identifiers.org/clinvar/290347 ^@ NM_015295.2(SMCHD1):c.4633A>G (p.Asn1545Asp) http://identifiers.org/clinvar/290348 ^@ NM_000070.2(CAPN3):c.1662C>G (p.Tyr554Ter) http://identifiers.org/clinvar/290349 ^@ NM_000445.4(PLEC):c.1366G>A (p.Gly456Ser) http://identifiers.org/clinvar/290350 ^@ NM_004369.3(COL6A3):c.5649C>A (p.Pro1883=) http://identifiers.org/clinvar/290351 ^@ NM_001267550.2(TTN):c.70424G>A (p.Arg23475His) http://identifiers.org/clinvar/290352 ^@ NM_004006.2(DMD):c.170T>C (p.Leu57Pro) http://identifiers.org/clinvar/290353 ^@ NM_201382.3(PLEC):c.5848C>T (p.Arg1950Cys) http://identifiers.org/clinvar/290354 ^@ NM_001130987.1(DYSF):c.5269A>C (p.Thr1757Pro) http://identifiers.org/clinvar/290355 ^@ NM_000337.5(SGCD):c.575+6C>T http://identifiers.org/clinvar/290356 ^@ NM_004369.3(COL6A3):c.6538-4C>T http://identifiers.org/clinvar/290357 ^@ NM_004006.2(DMD):c.831G>A (p.Gln277=) http://identifiers.org/clinvar/290358 ^@ NM_001848.2(COL6A1):c.1783G>A (p.Glu595Lys) http://identifiers.org/clinvar/290359 ^@ NM_033071.3(SYNE1):c.24925C>T (p.Arg8309Cys) http://identifiers.org/clinvar/290360 ^@ NM_004369.3(COL6A3):c.7264C>G (p.Arg2422Gly) http://identifiers.org/clinvar/290361 ^@ NM_001267550.2(TTN):c.107628delT (p.Asn35876Lysfs) http://identifiers.org/clinvar/290362 ^@ NM_001267550.2(TTN):c.21966G>C (p.Pro7322=) http://identifiers.org/clinvar/290363 ^@ NM_001267550.2(TTN):c.6690C>T (p.Phe2230=) http://identifiers.org/clinvar/290364 ^@ NM_001267550.2(TTN):c.81407G>C (p.Gly27136Ala) http://identifiers.org/clinvar/290365 ^@ NM_001267550.2(TTN):c.99460C>T (p.Arg33154Cys) http://identifiers.org/clinvar/290366 ^@ NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) http://identifiers.org/clinvar/290367 ^@ NM_001267550.2(TTN):c.107182G>A (p.Glu35728Lys) http://identifiers.org/clinvar/290368 ^@ NM_017780.3(CHD7):c.5496G>A (p.Glu1832=) http://identifiers.org/clinvar/290369 ^@ NM_030665.3(RAI1):c.2056C>T (p.Leu686=) http://identifiers.org/clinvar/290370 ^@ NM_030665.3(RAI1):c.2721G>C (p.Val907=) http://identifiers.org/clinvar/290371 ^@ NM_153240.4(NPHP3):c.245C>A (p.Pro82Gln) http://identifiers.org/clinvar/290372 ^@ NM_001701.3(BAAT):c.1120G>A (p.Ala374Thr) http://identifiers.org/clinvar/290373 ^@ NM_025193.3(HSD3B7):c.586G>A (p.Gly196Ser) http://identifiers.org/clinvar/290374 ^@ NM_015102.4(NPHP4):c.9C>T (p.Asp3=) http://identifiers.org/clinvar/290375 ^@ NM_022437.2(ABCG8):c.1611G>A (p.Leu537=) http://identifiers.org/clinvar/290376 ^@ NM_153240.4(NPHP3):c.1433G>A (p.Gly478Asp) http://identifiers.org/clinvar/290377 ^@ NM_000287.3(PEX6):c.1202T>A (p.Leu401Ter) http://identifiers.org/clinvar/290378 ^@ NM_000458.3(HNF1B):c.1663C>A (p.Gln555Lys) http://identifiers.org/clinvar/290379 ^@ NM_000214.2(JAG1):c.2682+8A>G http://identifiers.org/clinvar/290380 ^@ NM_000272.3(NPHP1):c.979A>G (p.Ile327Val) http://identifiers.org/clinvar/290381 ^@ NM_001701.3(BAAT):c.1173C>T (p.His391=) http://identifiers.org/clinvar/290382 ^@ NM_022437.2(ABCG8):c.1106A>T (p.Asp369Val) http://identifiers.org/clinvar/290383 ^@ NM_015102.4(NPHP4):c.2964C>T (p.Ala988=) http://identifiers.org/clinvar/290384 ^@ NM_000169.2(GLA):c.664_672delTACTGCAAT (p.Tyr222_Asn224del) http://identifiers.org/clinvar/290385 ^@ NM_138694.3(PKHD1):c.5324G>A (p.Arg1775Gln) http://identifiers.org/clinvar/290386 ^@ NM_012254.2(SLC27A5):c.820C>T (p.His274Tyr) http://identifiers.org/clinvar/290388 ^@ NM_015158.3(KANK1):c.1417G>A (p.Glu473Lys) http://identifiers.org/clinvar/290389 ^@ NM_001080522.2(CC2D2A):c.192G>A (p.Val64=) http://identifiers.org/clinvar/290390 ^@ NM_015158.3(KANK1):c.3130C>T (p.Arg1044Trp) http://identifiers.org/clinvar/290391 ^@ NM_032228.5(FAR1):c.398G>A (p.Arg133Gln) http://identifiers.org/clinvar/290392 ^@ NM_000720.3(CACNA1D):c.6394C>T (p.Arg2132Cys) http://identifiers.org/clinvar/290393 ^@ NM_001025366.2(VEGFA):c.973C>T (p.Arg325Ter) http://identifiers.org/clinvar/290394 ^@ NM_001127221.1(CACNA1A):c.3528A>C (p.Pro1176=) http://identifiers.org/clinvar/290395 ^@ NM_004006.2(DMD):c.1534_1535insTC (p.His512Leufs) http://identifiers.org/clinvar/290396 ^@ NM_001458.4(FLNC):c.8070G>T (p.Arg2690=) http://identifiers.org/clinvar/290397 ^@ NM_033071.3(SYNE1):c.24768A>G (p.Val8256=) http://identifiers.org/clinvar/290398 ^@ NM_000390.3(CHM):c.1244+8T>A http://identifiers.org/clinvar/290399 ^@ NM_001127221.1(CACNA1A):c.4092+3G>A http://identifiers.org/clinvar/290400 ^@ NM_032119.3(ADGRV1):c.8738T>C (p.Val2913Ala) http://identifiers.org/clinvar/290401 ^@ NM_014141.5(CNTNAP2):c.965C>T (p.Ser322Phe) http://identifiers.org/clinvar/290402 ^@ NM_001110792.1(MECP2):c.656T>C (p.Val219Ala) http://identifiers.org/clinvar/290403 ^@ NM_018328.4(MBD5):c.3559T>G (p.Ser1187Ala) http://identifiers.org/clinvar/290404 ^@ NM_198903.2(GABRG2):c.1230T>C (p.Asp410=) http://identifiers.org/clinvar/290405 ^@ NM_006920.4(SCN1A):c.935T>G (p.Phe312Cys) http://identifiers.org/clinvar/290406 ^@ NM_004098.3(EMX2):c.176_178dupCCG (p.Ala59_Gly60insAla) http://identifiers.org/clinvar/290407 ^@ NM_032119.3(ADGRV1):c.9329G>A (p.Gly3110Glu) http://identifiers.org/clinvar/290408 ^@ NM_000742.3(CHRNA2):c.321C>T (p.Thr107=) http://identifiers.org/clinvar/290409 ^@ NM_018328.4(MBD5):c.1341G>A (p.Gly447=) http://identifiers.org/clinvar/290410 ^@ NM_018136.4(ASPM):c.2994G>A (p.Pro998=) http://identifiers.org/clinvar/290411 ^@ NM_198903.2(GABRG2):c.1440G>A (p.Gly480=) http://identifiers.org/clinvar/290412 ^@ NM_000744.6(CHRNA4):c.758C>T (p.Pro253Leu) http://identifiers.org/clinvar/290413 ^@ NM_032119.3(ADGRV1):c.10736C>T (p.Ala3579Val) http://identifiers.org/clinvar/290414 ^@ NM_025243.3(SLC19A3):c.399C>G (p.Pro133=) http://identifiers.org/clinvar/290415 ^@ NM_001083961.1(WDR62):c.82C>T (p.Arg28Trp) http://identifiers.org/clinvar/290416 ^@ NM_020822.2(KCNT1):c.867C>A (p.Ile289=) http://identifiers.org/clinvar/290417 ^@ NM_000833.4(GRIN2A):c.1812T>A (p.Ala604=) http://identifiers.org/clinvar/290418 ^@ NM_025243.3(SLC19A3):c.225T>C (p.Asp75=) http://identifiers.org/clinvar/290419 ^@ NM_032119.3(ADGRV1):c.2991T>C (p.Ile997=) http://identifiers.org/clinvar/290420 ^@ NM_003482.3(KMT2D):c.6409A>G (p.Thr2137Ala) http://identifiers.org/clinvar/290421 ^@ NM_000875.4(IGF1R):c.3595G>A (p.Gly1199Arg) http://identifiers.org/clinvar/290422 ^@ NM_000044.4(AR):c.234_239dupGCAGCA (p.Gln80_Glu81insGlnGln) http://identifiers.org/clinvar/290423 ^@ NM_001128227.2(GNE):c.1779delC (p.Cys594Valfs) http://identifiers.org/clinvar/290424 ^@ NM_001080442.2(SLC38A8):c.617C>G (p.Ser206Cys) http://identifiers.org/clinvar/290425 ^@ NM_001128834.2(PLP1):c.453G>A (p.Lys151=) http://identifiers.org/clinvar/290426 ^@ NM_021074.4(NDUFV2):c.428G>A (p.Arg143Gln) http://identifiers.org/clinvar/290427 ^@ NM_000444.5(PHEX):c.1675T>C (p.Phe559Leu) http://identifiers.org/clinvar/290428 ^@ NM_000543.4(SMPD1):c.627G>A (p.Leu209=) http://identifiers.org/clinvar/290429 ^@ NM_000784.3(CYP27A1):c.1286A>G (p.Tyr429Cys) http://identifiers.org/clinvar/290430 ^@ NM_000463.2(UGT1A1):c.577G>A (p.Val193Met) http://identifiers.org/clinvar/290431 ^@ NM_138694.3(PKHD1):c.10619A>G (p.Asp3540Gly) http://identifiers.org/clinvar/290432 ^@ NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) http://identifiers.org/clinvar/290433 ^@ NM_004006.2(DMD):c.5654A>T (p.Gln1885Leu) http://identifiers.org/clinvar/290434 ^@ NM_182961.3(SYNE1):c.24618C>T (p.Tyr8206=) http://identifiers.org/clinvar/290435 ^@ NM_001165928.3(DAG1):c.1257delT (p.Thr421Glnfs) http://identifiers.org/clinvar/290436 ^@ NM_000152.4(GAA):c.1438-7_1438-5delTGT http://identifiers.org/clinvar/290437 ^@ NM_000214.2(JAG1):c.204C>T (p.Arg68=) http://identifiers.org/clinvar/290438 ^@ NM_005572.3(LMNA):c.302G>A (p.Arg101His) http://identifiers.org/clinvar/290439 ^@ NM_024408.3(NOTCH2):c.4142G>A (p.Ser1381Asn) http://identifiers.org/clinvar/290440 ^@ NM_000152.4(GAA):c.70G>A (p.Ala24Thr) http://identifiers.org/clinvar/290441 ^@ NM_014425.4(INVS):c.1784+8T>C http://identifiers.org/clinvar/290442 ^@ NM_001360.2(DHCR7):c.198C>T (p.Cys66=) http://identifiers.org/clinvar/290443 ^@ NM_002437.4(MPV17):c.284dupG (p.Phe96Leufs) http://identifiers.org/clinvar/290444 ^@ NM_033071.3(SYNE1):c.15998C>T (p.Ala5333Val) http://identifiers.org/clinvar/290445 ^@ NM_004006.2(DMD):c.5344G>T (p.Glu1782Ter) http://identifiers.org/clinvar/290446 ^@ NM_017739.3(POMGNT1):c.652+6G>A http://identifiers.org/clinvar/290447 ^@ NM_001849.3(COL6A2):c.2847C>T (p.Asp949=) http://identifiers.org/clinvar/290448 ^@ NM_012210.3(TRIM32):c.693A>C (p.Ala231=) http://identifiers.org/clinvar/290449 ^@ NM_182961.3(SYNE1):c.13102G>A (p.Ala4368Thr) http://identifiers.org/clinvar/290450 ^@ NM_201381.2(PLEC):c.8856C>T (p.Ala2952=) http://identifiers.org/clinvar/290451 ^@ NM_058246.3(DNAJB6):c.868G>C (p.Gly290Arg) http://identifiers.org/clinvar/290452 ^@ NM_015295.2(SMCHD1):c.5006G>T (p.Arg1669Leu) http://identifiers.org/clinvar/290453 ^@ NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met) http://identifiers.org/clinvar/290454 ^@ NM_004006.2(DMD):c.4435G>A (p.Asp1479Asn) http://identifiers.org/clinvar/290455 ^@ NM_182961.3(SYNE1):c.20159A>C (p.Glu6720Ala) http://identifiers.org/clinvar/290456 ^@ NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr) http://identifiers.org/clinvar/290457 ^@ NM_001267550.2(TTN):c.70855A>G (p.Ser23619Gly) http://identifiers.org/clinvar/290458 ^@ NM_004369.3(COL6A3):c.2507G>T (p.Arg836Leu) http://identifiers.org/clinvar/290459 ^@ NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) http://identifiers.org/clinvar/290460 ^@ NM_001267550.2(TTN):c.78929C>T (p.Pro26310Leu) http://identifiers.org/clinvar/290461 ^@ NM_012210.3(TRIM32):c.430G>A (p.Glu144Lys) http://identifiers.org/clinvar/290462 ^@ NM_004369.3(COL6A3):c.7513G>A (p.Gly2505Arg) http://identifiers.org/clinvar/290463 ^@ NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) http://identifiers.org/clinvar/290464 ^@ NM_000445.4(PLEC):c.13080C>T (p.Thr4360=) http://identifiers.org/clinvar/290465 ^@ NM_213599.2(ANO5):c.180+7C>T http://identifiers.org/clinvar/290466 ^@ NM_201384.2(PLEC):c.963C>T (p.Phe321=) http://identifiers.org/clinvar/290467 ^@ NM_000445.4(PLEC):c.3614G>A (p.Arg1205Gln) http://identifiers.org/clinvar/290468 ^@ NM_001267550.2(TTN):c.106137dupT (p.Lys35380Terfs) http://identifiers.org/clinvar/290469 ^@ NM_001267550.2(TTN):c.90255_90256delAT (p.Cys30086Terfs) http://identifiers.org/clinvar/290470 ^@ NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His) http://identifiers.org/clinvar/290471 ^@ NM_004369.3(COL6A3):c.284C>T (p.Thr95Met) http://identifiers.org/clinvar/290472 ^@ NM_133378.4(TTN):c.50503G>C (p.Ala16835Pro) http://identifiers.org/clinvar/290473 ^@ NM_001267550.2(TTN):c.93881_93886delCTGGTG (p.Ala31294_Gly31295del) http://identifiers.org/clinvar/290474 ^@ NM_001267550.2(TTN):c.78372T>C (p.Ile26124=) http://identifiers.org/clinvar/290475 ^@ NM_000445.4(PLEC):c.150G>T (p.Gly50=) http://identifiers.org/clinvar/290476 ^@ NM_001849.3(COL6A2):c.1899G>A (p.Leu633=) http://identifiers.org/clinvar/290477 ^@ NM_001267550.2(TTN):c.30224-7T>G http://identifiers.org/clinvar/290478 ^@ NM_012210.3(TRIM32):c.873T>G (p.Ile291Met) http://identifiers.org/clinvar/290479 ^@ NM_001079802.1(FKTN):c.820C>T (p.Arg274Trp) http://identifiers.org/clinvar/290480 ^@ NM_001849.3(COL6A2):c.2205C>T (p.His735=) http://identifiers.org/clinvar/290481 ^@ NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala) http://identifiers.org/clinvar/290482 ^@ NM_006790.2(MYOT):c.1453C>T (p.Arg485Cys) http://identifiers.org/clinvar/290483 ^@ NM_000152.4(GAA):c.2365C>G (p.Pro789Ala) http://identifiers.org/clinvar/290484 ^@ NM_001849.3(COL6A2):c.1117-7C>A http://identifiers.org/clinvar/290485 ^@ NM_017739.3(POMGNT1):c.1284+9G>C http://identifiers.org/clinvar/290486 ^@ NM_033071.3(SYNE1):c.7641G>A (p.Thr2547=) http://identifiers.org/clinvar/290487 ^@ NM_033071.3(SYNE1):c.2749A>G (p.Ser917Gly) http://identifiers.org/clinvar/290488 ^@ NM_182961.3(SYNE1):c.21906T>C (p.Phe7302=) http://identifiers.org/clinvar/290489 ^@ NM_001849.3(COL6A2):c.410C>T (p.Ala137Val) http://identifiers.org/clinvar/290490 ^@ NM_001848.2(COL6A1):c.931-1G>C http://identifiers.org/clinvar/290491 ^@ NM_001849.3(COL6A2):c.1585G>A (p.Glu529Lys) http://identifiers.org/clinvar/290492 ^@ NM_033071.3(SYNE1):c.8680A>C (p.Ile2894Leu) http://identifiers.org/clinvar/290493 ^@ NM_003383.4(VLDLR):c.-27_-19delGGCGGCGGC http://identifiers.org/clinvar/290494 ^@ NM_001267550.2(TTN):c.25626G>A (p.Gln8542=) http://identifiers.org/clinvar/290495 ^@ NM_004369.3(COL6A3):c.7029+3A>G http://identifiers.org/clinvar/290496 ^@ NM_000023.3(SGCA):c.272G>A (p.Gly91Asp) http://identifiers.org/clinvar/290497 ^@ NM_001849.3(COL6A2):c.856-2A>C http://identifiers.org/clinvar/290498 ^@ NM_004006.2(DMD):c.140G>C (p.Gly47Ala) http://identifiers.org/clinvar/290499 ^@ NM_006731.2(FKTN):c.757A>G (p.Lys253Glu) http://identifiers.org/clinvar/290500 ^@ NM_005572.3(LMNA):c.298G>C (p.Ala100Pro) http://identifiers.org/clinvar/290501 ^@ NM_033071.3(SYNE1):c.10091C>T (p.Pro3364Leu) http://identifiers.org/clinvar/290502 ^@ NM_182961.3(SYNE1):c.8210A>G (p.Asp2737Gly) http://identifiers.org/clinvar/290503 ^@ NM_000070.2(CAPN3):c.1542C>T (p.His514=) http://identifiers.org/clinvar/290504 ^@ NM_213599.2(ANO5):c.1685T>C (p.Leu562Pro) http://identifiers.org/clinvar/290505 ^@ NM_000117.2(EMD):c.295T>C (p.Tyr99His) http://identifiers.org/clinvar/290506 ^@ NM_003494.3(DYSF):c.3422C>T (p.Thr1141Met) http://identifiers.org/clinvar/290507 ^@ NM_206828.3(NLRP7):c.1460G>A (p.Gly487Glu) http://identifiers.org/clinvar/290508 ^@ NM_014363.5(SACS):c.13036G>A (p.Asp4346Asn) http://identifiers.org/clinvar/290509 ^@ NM_014639.3(TTC37):c.4211A>G (p.Gln1404Arg) http://identifiers.org/clinvar/290510 ^@ NM_004369.3(COL6A3):c.7045C>T (p.Pro2349Ser) http://identifiers.org/clinvar/290511 ^@ NM_033071.3(SYNE1):c.16447A>G (p.Ile5483Val) http://identifiers.org/clinvar/290512 ^@ NM_001458.4(FLNC):c.1813+11G>T http://identifiers.org/clinvar/290513 ^@ NM_004369.3(COL6A3):c.1095G>C (p.Gly365=) http://identifiers.org/clinvar/290514 ^@ NM_033071.3(SYNE1):c.13222C>T (p.Arg4408Cys) http://identifiers.org/clinvar/290515 ^@ NM_001130987.1(DYSF):c.759G>C (p.Gln253His) http://identifiers.org/clinvar/290516 ^@ NM_001849.3(COL6A2):c.960C>T (p.Ala320=) http://identifiers.org/clinvar/290517 ^@ NM_001130987.1(DYSF):c.3080A>T (p.Glu1027Val) http://identifiers.org/clinvar/290518 ^@ NM_213599.2(ANO5):c.1689T>C (p.Phe563=) http://identifiers.org/clinvar/290519 ^@ NM_000070.2(CAPN3):c.2263+1G>A http://identifiers.org/clinvar/290520 ^@ NM_012470.3(TNPO3):c.574G>C (p.Gly192Arg) http://identifiers.org/clinvar/290521 ^@ NM_004369.3(COL6A3):c.4835C>T (p.Ser1612Leu) http://identifiers.org/clinvar/290522 ^@ NM_000023.3(SGCA):c.1132G>A (p.Ala378Thr) http://identifiers.org/clinvar/290523 ^@ NM_058246.3(DNAJB6):c.857C>T (p.Pro286Leu) http://identifiers.org/clinvar/290524 ^@ NM_004369.3(COL6A3):c.6966+4A>C http://identifiers.org/clinvar/290525 ^@ NM_033071.3(SYNE1):c.2589+3G>A http://identifiers.org/clinvar/290526 ^@ NM_001849.3(COL6A2):c.94G>A (p.Glu32Lys) http://identifiers.org/clinvar/290527 ^@ NM_001848.2(COL6A1):c.776C>T (p.Pro259Leu) http://identifiers.org/clinvar/290528 ^@ NM_013382.5(POMT2):c.1080C>T (p.His360=) http://identifiers.org/clinvar/290529 ^@ NM_004369.3(COL6A3):c.6899G>A (p.Gly2300Glu) http://identifiers.org/clinvar/290530 ^@ NM_033071.3(SYNE1):c.16858C>T (p.Leu5620Phe) http://identifiers.org/clinvar/290531 ^@ NM_182961.3(SYNE1):c.19972A>G (p.Lys6658Glu) http://identifiers.org/clinvar/290532 ^@ NM_004006.2(DMD):c.2210G>A (p.Arg737His) http://identifiers.org/clinvar/290533 ^@ NM_006731.2(FKTN):c.143T>C (p.Ile48Thr) http://identifiers.org/clinvar/290534 ^@ NM_001267550.2(TTN):c.7760A>G (p.Tyr2587Cys) http://identifiers.org/clinvar/290535 ^@ NM_201383.2(PLEC):c.7481C>T (p.Ala2494Val) http://identifiers.org/clinvar/290536 ^@ NM_001165928.3(DAG1):c.2326C>G (p.Arg776Gly) http://identifiers.org/clinvar/290537 ^@ NM_000152.4(GAA):c.468C>T (p.Thr156=) http://identifiers.org/clinvar/290538 ^@ NM_001267550.2(TTN):c.16487G>A (p.Cys5496Tyr) http://identifiers.org/clinvar/290539 ^@ NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr) http://identifiers.org/clinvar/290540 ^@ NM_001267550.2(TTN):c.77268A>G (p.Ala25756=) http://identifiers.org/clinvar/290541 ^@ NM_001101426.3(ISPD):c.239C>A (p.Thr80Asn) http://identifiers.org/clinvar/290542 ^@ NM_000070.2(CAPN3):c.2231G>C (p.Ser744Thr) http://identifiers.org/clinvar/290543 ^@ NM_213599.2(ANO5):c.1880T>C (p.Ile627Thr) http://identifiers.org/clinvar/290544 ^@ NM_001848.2(COL6A1):c.607A>G (p.Ile203Val) http://identifiers.org/clinvar/290545 ^@ NM_033071.3(SYNE1):c.7871G>A (p.Arg2624Gln) http://identifiers.org/clinvar/290546 ^@ NM_001079802.1(FKTN):c.448A>G (p.Ile150Val) http://identifiers.org/clinvar/290547 ^@ NM_000070.2(CAPN3):c.1706T>C (p.Phe569Ser) http://identifiers.org/clinvar/290548 ^@ NM_001849.3(COL6A2):c.1396-11_1396-2delCTTTCTTCCA http://identifiers.org/clinvar/290549 ^@ NM_015295.2(SMCHD1):c.3633+10C>T http://identifiers.org/clinvar/290550 ^@ NM_015295.2(SMCHD1):c.4738A>G (p.Ser1580Gly) http://identifiers.org/clinvar/290551 ^@ NM_033071.3(SYNE1):c.18576G>A (p.Ser6192=) http://identifiers.org/clinvar/290552 ^@ NM_033071.3(SYNE1):c.8558T>C (p.Leu2853Ser) http://identifiers.org/clinvar/290553 ^@ NM_000231.2(SGCG):c.385+2T>G http://identifiers.org/clinvar/290554 ^@ NM_001267550.2(TTN):c.27212A>T (p.Asp9071Val) http://identifiers.org/clinvar/290555 ^@ NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val) http://identifiers.org/clinvar/290556 ^@ NM_004006.2(DMD):c.5706C>A (p.Ser1902Arg) http://identifiers.org/clinvar/290557 ^@ NM_001130987.1(DYSF):c.3458T>C (p.Phe1153Ser) http://identifiers.org/clinvar/290558 ^@ NM_182961.3(SYNE1):c.15372G>A (p.Leu5124=) http://identifiers.org/clinvar/290559 ^@ NM_001130987.1(DYSF):c.3501G>A (p.Gly1167=) http://identifiers.org/clinvar/290560 ^@ NM_000070.2(CAPN3):c.2051-3C>G http://identifiers.org/clinvar/290561 ^@ NM_033071.3(SYNE1):c.6107A>C (p.Asn2036Thr) http://identifiers.org/clinvar/290562 ^@ NM_001927.3(DES):c.25C>G (p.Gln9Glu) http://identifiers.org/clinvar/290563 ^@ NM_001927.3(DES):c.567G>C (p.Arg189=) http://identifiers.org/clinvar/290564 ^@ NM_004006.2(DMD):c.6804_6807delACAA (p.Lys2268Asnfs) http://identifiers.org/clinvar/290565 ^@ NM_000303.2(PMM2):c.441C>T (p.Leu147=) http://identifiers.org/clinvar/290566 ^@ NM_001165928.3(DAG1):c.2618T>C (p.Met873Thr) http://identifiers.org/clinvar/290567 ^@ NM_000228.2(LAMB3):c.476G>A (p.Arg159Gln) http://identifiers.org/clinvar/290568 ^@ NM_005562.2(LAMC2):c.493C>T (p.Arg165Cys) http://identifiers.org/clinvar/290569 ^@ NM_000228.2(LAMB3):c.2320A>T (p.Met774Leu) http://identifiers.org/clinvar/290570 ^@ NM_001849.3(COL6A2):c.1779C>T (p.Asp593=) http://identifiers.org/clinvar/290571 ^@ NM_182961.3(SYNE1):c.16349C>T (p.Ala5450Val) http://identifiers.org/clinvar/290572 ^@ NM_000372.4(TYR):c.1136G>C (p.Gly379Ala) http://identifiers.org/clinvar/290573 ^@ NM_005562.2(LAMC2):c.2754+9T>C http://identifiers.org/clinvar/290574 ^@ NM_005562.2(LAMC2):c.880C>T (p.Leu294=) http://identifiers.org/clinvar/290575 ^@ NM_005562.2(LAMC2):c.889A>G (p.Thr297Ala) http://identifiers.org/clinvar/290576 ^@ NM_006432.3(NPC2):c.271G>A (p.Asp91Asn) http://identifiers.org/clinvar/290577 ^@ NM_000402.4(G6PD):c.1455-5C>T http://identifiers.org/clinvar/290578 ^@ NM_000263.3(NAGLU):c.1438G>A (p.Ala480Thr) http://identifiers.org/clinvar/290579 ^@ NM_001360.2(DHCR7):c.742T>C (p.Trp248Arg) http://identifiers.org/clinvar/290580 ^@ NM_004646.3(NPHS1):c.25G>A (p.Ala9Thr) http://identifiers.org/clinvar/290581 ^@ NM_001287174.1(ABCC8):c.3616G>A (p.Glu1206Lys) http://identifiers.org/clinvar/290582 ^@ NM_000227.4(LAMA3):c.4002G>A (p.Arg1334=) http://identifiers.org/clinvar/290583 ^@ NM_000098.2(CPT2):c.853G>A (p.Glu285Lys) http://identifiers.org/clinvar/290584 ^@ NM_000027.3(AGA):c.762C>T (p.Ala254=) http://identifiers.org/clinvar/290585 ^@ NM_001031681.2(CTNS):c.792G>A (p.Gln264=) http://identifiers.org/clinvar/290586 ^@ NM_004006.2(DMD):c.93+1_93+5delGTAAG http://identifiers.org/clinvar/290587 ^@ NM_001267550.2(TTN):c.79545C>T (p.Gly26515=) http://identifiers.org/clinvar/290588 ^@ NM_024301.4(FKRP):c.738_749delCCCGCTGGCCAC (p.Pro247_Thr250del) http://identifiers.org/clinvar/290589 ^@ NM_024301.4(FKRP):c.749C>G (p.Thr250Arg) http://identifiers.org/clinvar/290590 ^@ NM_182961.3(SYNE1):c.16553G>A (p.Arg5518Gln) http://identifiers.org/clinvar/290591 ^@ NM_001267550.2(TTN):c.31594+4T>C http://identifiers.org/clinvar/290592 ^@ NM_012470.3(TNPO3):c.1961C>T (p.Ala654Val) http://identifiers.org/clinvar/290593 ^@ NM_033071.3(SYNE1):c.18467G>T (p.Arg6156Leu) http://identifiers.org/clinvar/290594 ^@ NM_001128227.2(GNE):c.1395T>C (p.Tyr465=) http://identifiers.org/clinvar/290595 ^@ NM_002547.2(OPHN1):c.772delC (p.Gln258Argfs) http://identifiers.org/clinvar/290596 ^@ NM_000742.3(CHRNA2):c.1431C>G (p.Ala477=) http://identifiers.org/clinvar/290597 ^@ NM_004006.2(DMD):c.8172C>T (p.Leu2724=) http://identifiers.org/clinvar/290598 ^@ NM_182961.3(SYNE1):c.7987C>T (p.Arg2663Trp) http://identifiers.org/clinvar/290599 ^@ NM_004006.2(DMD):c.4845+1G>T http://identifiers.org/clinvar/290600 ^@ NM_033071.3(SYNE1):c.21711G>A (p.Glu7237=) http://identifiers.org/clinvar/290601 ^@ NM_000232.4(SGCB):c.680G>A (p.Arg227His) http://identifiers.org/clinvar/290602 ^@ NM_006731.2(FKTN):c.1270G>A (p.Gly424Ser) http://identifiers.org/clinvar/290603 ^@ NM_024301.4(FKRP):c.11C>G (p.Thr4Ser) http://identifiers.org/clinvar/290604 ^@ NM_004006.2(DMD):c.9975-2A>C http://identifiers.org/clinvar/290605 ^@ NM_033071.3(SYNE1):c.7329C>T (p.Thr2443=) http://identifiers.org/clinvar/290606 ^@ NM_015295.2(SMCHD1):c.319C>T (p.Leu107=) http://identifiers.org/clinvar/290607 ^@ NM_001848.2(COL6A1):c.822G>A (p.Pro274=) http://identifiers.org/clinvar/290608 ^@ NM_001130987.1(DYSF):c.2411C>A (p.Pro804His) http://identifiers.org/clinvar/290609 ^@ NM_001849.3(COL6A2):c.2483C>T (p.Thr828Met) http://identifiers.org/clinvar/290610 ^@ NM_033071.3(SYNE1):c.4108C>T (p.His1370Tyr) http://identifiers.org/clinvar/290611 ^@ NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter) http://identifiers.org/clinvar/290612 ^@ NM_033071.3(SYNE1):c.17614T>A (p.Ser5872Thr) http://identifiers.org/clinvar/290613 ^@ NM_033071.3(SYNE1):c.19314A>G (p.Gln6438=) http://identifiers.org/clinvar/290614 ^@ NM_004006.2(DMD):c.9888C>T (p.Pro3296=) http://identifiers.org/clinvar/290615 ^@ NM_006790.2(MYOT):c.282C>T (p.Ala94=) http://identifiers.org/clinvar/290616 ^@ NM_000152.4(GAA):c.952A>T (p.Met318Leu) http://identifiers.org/clinvar/290617 ^@ NM_000070.2(CAPN3):c.1353A>C (p.Pro451=) http://identifiers.org/clinvar/290618 ^@ NM_033071.3(SYNE1):c.4845G>A (p.Ala1615=) http://identifiers.org/clinvar/290619 ^@ NM_004369.3(COL6A3):c.5392C>T (p.Arg1798Cys) http://identifiers.org/clinvar/290620 ^@ NM_012210.3(TRIM32):c.918dupC (p.Trp307Leufs) http://identifiers.org/clinvar/290621 ^@ NM_182961.3(SYNE1):c.21465A>T (p.Arg7155=) http://identifiers.org/clinvar/290622 ^@ NM_182961.3(SYNE1):c.17927C>T (p.Ser5976Phe) http://identifiers.org/clinvar/290623 ^@ NM_001848.2(COL6A1):c.1056+5G>T http://identifiers.org/clinvar/290624 ^@ NM_000023.3(SGCA):c.892delC (p.Leu298Cysfs) http://identifiers.org/clinvar/290625 ^@ NM_000023.3(SGCA):c.489delA (p.Leu164Serfs) http://identifiers.org/clinvar/290626 ^@ NM_000117.2(EMD):c.12C>T (p.Tyr4=) http://identifiers.org/clinvar/290627 ^@ NM_001101426.3(ISPD):c.248C>T (p.Ala83Val) http://identifiers.org/clinvar/290628 ^@ NM_007171.3(POMT1):c.247G>A (p.Asp83Asn) http://identifiers.org/clinvar/290629 ^@ NM_004006.2(DMD):c.9649+8G>A http://identifiers.org/clinvar/290630 ^@ NM_033071.3(SYNE1):c.9392T>C (p.Met3131Thr) http://identifiers.org/clinvar/290631 ^@ NM_001128227.2(GNE):c.97G>T (p.Glu33Ter) http://identifiers.org/clinvar/290632 ^@ NM_007171.3(POMT1):c.1713G>A (p.Glu571=) http://identifiers.org/clinvar/290633 ^@ NM_001848.2(COL6A1):c.1234G>A (p.Glu412Lys) http://identifiers.org/clinvar/290634 ^@ NM_001267550.2(TTN):c.48500G>A (p.Arg16167Gln) http://identifiers.org/clinvar/290635 ^@ NM_201384.2(PLEC):c.5815G>A (p.Ala1939Thr) http://identifiers.org/clinvar/290636 ^@ NM_001267550.2(TTN):c.85060C>T (p.Pro28354Ser) http://identifiers.org/clinvar/290637 ^@ NM_001267550.2(TTN):c.21707T>C (p.Leu7236Ser) http://identifiers.org/clinvar/290638 ^@ NM_001267550.2(TTN):c.42415+7G>A http://identifiers.org/clinvar/290639 ^@ NM_201383.2(PLEC):c.11767G>A (p.Glu3923Lys) http://identifiers.org/clinvar/290640 ^@ NM_001267550.2(TTN):c.73247C>T (p.Thr24416Ile) http://identifiers.org/clinvar/290641 ^@ NM_000023.3(SGCA):c.161delT (p.Val54Alafs) http://identifiers.org/clinvar/290643 ^@ NM_015295.2(SMCHD1):c.2701-8delT http://identifiers.org/clinvar/290644 ^@ NM_033071.3(SYNE1):c.3654C>G (p.Ser1218=) http://identifiers.org/clinvar/290645 ^@ NM_003673.3(TCAP):c.66G>A (p.Trp22Ter) http://identifiers.org/clinvar/290646 ^@ NM_015295.2(SMCHD1):c.1801G>T (p.Ala601Ser) http://identifiers.org/clinvar/290647 ^@ NM_201382.3(PLEC):c.3780C>T (p.Arg1260=) http://identifiers.org/clinvar/290648 ^@ NM_024301.4(FKRP):c.1323T>G (p.Phe441Leu) http://identifiers.org/clinvar/290649 ^@ NM_201379.2(PLEC):c.3070G>A (p.Glu1024Lys) http://identifiers.org/clinvar/290650 ^@ NM_201384.2(PLEC):c.10116C>T (p.Tyr3372=) http://identifiers.org/clinvar/290651 ^@ NM_201383.2(PLEC):c.3908C>T (p.Pro1303Leu) http://identifiers.org/clinvar/290652 ^@ NM_004006.2(DMD):c.91A>G (p.Lys31Glu) http://identifiers.org/clinvar/290653 ^@ NM_001267550.2(TTN):c.94794A>G (p.Glu31598=) http://identifiers.org/clinvar/290654 ^@ NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg) http://identifiers.org/clinvar/290655 ^@ NM_001267550.2(TTN):c.39570T>C (p.Val13190=) http://identifiers.org/clinvar/290656 ^@ NM_000232.4(SGCB):c.33+6T>A http://identifiers.org/clinvar/290657 ^@ NM_001130987.1(DYSF):c.3779G>A (p.Arg1260His) http://identifiers.org/clinvar/290658 ^@ NM_201383.2(PLEC):c.10738G>A (p.Gly3580Ser) http://identifiers.org/clinvar/290659 ^@ NM_000152.4(GAA):c.1886C>T (p.Pro629Leu) http://identifiers.org/clinvar/290660 ^@ NM_005572.3(LMNA):c.1314G>A (p.Gly438=) http://identifiers.org/clinvar/290661 ^@ NM_001849.3(COL6A2):c.627C>T (p.His209=) http://identifiers.org/clinvar/290662 ^@ NM_001849.3(COL6A2):c.545A>G (p.Glu182Gly) http://identifiers.org/clinvar/290663 ^@ NM_201380.3(PLEC):c.5561G>A (p.Arg1854Gln) http://identifiers.org/clinvar/290664 ^@ NM_032446.2(MEGF10):c.130G>A (p.Val44Met) http://identifiers.org/clinvar/290665 ^@ NM_032446.2(MEGF10):c.2662T>C (p.Ser888Pro) http://identifiers.org/clinvar/290666 ^@ NM_147127.4(EVC2):c.2340C>T (p.His780=) http://identifiers.org/clinvar/290667 ^@ NM_147127.4(EVC2):c.850delA (p.Thr284Glnfs) http://identifiers.org/clinvar/290668 ^@ NM_000426.3(LAMA2):c.5605G>T (p.Glu1869Ter) http://identifiers.org/clinvar/290669 ^@ NM_033071.3(SYNE1):c.11969C>T (p.Pro3990Leu) http://identifiers.org/clinvar/290670 ^@ NM_003494.3(DYSF):c.4025G>A (p.Arg1342Gln) http://identifiers.org/clinvar/290671 ^@ NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr) http://identifiers.org/clinvar/290672 ^@ NM_001849.3(COL6A2):c.1458+1G>A http://identifiers.org/clinvar/290673 ^@ NM_000070.2(CAPN3):c.2290delG (p.Asp764Thrfs) http://identifiers.org/clinvar/290674 ^@ NM_182961.3(SYNE1):c.24801C>T (p.Ser8267=) http://identifiers.org/clinvar/290675 ^@ NM_213599.2(ANO5):c.696G>A (p.Lys232=) http://identifiers.org/clinvar/290676 ^@ NM_001101426.3(ISPD):c.828T>C (p.Ile276=) http://identifiers.org/clinvar/290677 ^@ NM_006731.2(FKTN):c.1158A>G (p.Thr386=) http://identifiers.org/clinvar/290678 ^@ NM_182961.3(SYNE1):c.25983C>T (p.Asp8661=) http://identifiers.org/clinvar/290679 ^@ NM_182961.3(SYNE1):c.13987T>C (p.Phe4663Leu) http://identifiers.org/clinvar/290680 ^@ NM_005045.3(RELN):c.1381T>C (p.Leu461=) http://identifiers.org/clinvar/290681 ^@ NM_001143979.1(NDE1):c.215G>A (p.Arg72His) http://identifiers.org/clinvar/290682 ^@ NM_000217.2(KCNA1):c.611G>A (p.Arg204His) http://identifiers.org/clinvar/290683 ^@ NM_000553.4(WRN):c.769A>G (p.Ile257Val) http://identifiers.org/clinvar/290684 ^@ NM_178138.5(LHX3):c.1161C>T (p.Ser387=) http://identifiers.org/clinvar/290685 ^@ NM_003482.3(KMT2D):c.5892G>A (p.Pro1964=) http://identifiers.org/clinvar/290686 ^@ NM_000553.4(WRN):c.4035G>A (p.Thr1345=) http://identifiers.org/clinvar/290687 ^@ NM_004560.3(ROR2):c.678C>T (p.Phe226=) http://identifiers.org/clinvar/290688 ^@ NM_006662.2(SRCAP):c.1020C>G (p.Pro340=) http://identifiers.org/clinvar/290689 ^@ NM_005270.4(GLI2):c.2140G>A (p.Ala714Thr) http://identifiers.org/clinvar/290690 ^@ NM_015384.4(NIPBL):c.6285T>G (p.Val2095=) http://identifiers.org/clinvar/290691 ^@ NM_001005207.3(TRIM37):c.513A>T (p.Val171=) http://identifiers.org/clinvar/290692 ^@ NM_017780.3(CHD7):c.3487A>G (p.Met1163Val) http://identifiers.org/clinvar/290693 ^@ NM_018977.3(NLGN3):c.543C>G (p.Pro181=) http://identifiers.org/clinvar/290694 ^@ NM_015243.2(VPS13B):c.2471C>T (p.Ser824Phe) http://identifiers.org/clinvar/290695 ^@ NM_001848.2(COL6A1):c.957+1G>A http://identifiers.org/clinvar/290696 ^@ NM_000117.2(EMD):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/290697 ^@ NM_201381.2(PLEC):c.5152C>T (p.Arg1718Trp) http://identifiers.org/clinvar/290698 ^@ NM_001267550.2(TTN):c.93396_93400delAGCTT (p.Trp31134Terfs) http://identifiers.org/clinvar/290699 ^@ NM_001267550.2(TTN):c.62815C>T (p.Arg20939Cys) http://identifiers.org/clinvar/290700 ^@ NM_001130987.1(DYSF):c.1576G>T (p.Val526Leu) http://identifiers.org/clinvar/290701 ^@ NM_182961.3(SYNE1):c.12272A>G (p.Asp4091Gly) http://identifiers.org/clinvar/290702 ^@ NM_003494.3(DYSF):c.2801C>T (p.Pro934Leu) http://identifiers.org/clinvar/290703 ^@ NM_001267550.2(TTN):c.66263C>A (p.Thr22088Asn) http://identifiers.org/clinvar/290704 ^@ NM_201384.2(PLEC):c.1263+9G>C http://identifiers.org/clinvar/290705 ^@ NM_201384.2(PLEC):c.1263+8G>T http://identifiers.org/clinvar/290706 ^@ NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) http://identifiers.org/clinvar/290707 ^@ NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) http://identifiers.org/clinvar/290708 ^@ NM_170707.3(LMNA):c.732G>A (p.Ala244=) http://identifiers.org/clinvar/290709 ^@ NM_000023.3(SGCA):c.657C>T (p.His219=) http://identifiers.org/clinvar/290710 ^@ NM_033071.3(SYNE1):c.16927C>T (p.Arg5643Trp) http://identifiers.org/clinvar/290711 ^@ NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln) http://identifiers.org/clinvar/290712 ^@ NM_201382.3(PLEC):c.12341C>T (p.Thr4114Met) http://identifiers.org/clinvar/290713 ^@ NM_001128227.2(GNE):c.304A>T (p.Arg102Trp) http://identifiers.org/clinvar/290714 ^@ NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) http://identifiers.org/clinvar/290715 ^@ NM_007171.3(POMT1):c.1552+10C>T http://identifiers.org/clinvar/290716 ^@ NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) http://identifiers.org/clinvar/290717 ^@ NM_001267550.2(TTN):c.49060C>T (p.Pro16354Ser) http://identifiers.org/clinvar/290718 ^@ NM_000023.3(SGCA):c.674G>A (p.Gly225Asp) http://identifiers.org/clinvar/290719 ^@ NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) http://identifiers.org/clinvar/290720 ^@ NM_001267550.2(TTN):c.51337C>T (p.Pro17113Ser) http://identifiers.org/clinvar/290721 ^@ NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) http://identifiers.org/clinvar/290722 ^@ NM_001849.3(COL6A2):c.81G>A (p.Ser27=) http://identifiers.org/clinvar/290723 ^@ NM_014141.5(CNTNAP2):c.29G>A (p.Gly10Glu) http://identifiers.org/clinvar/290724 ^@ NM_207361.5(FREM2):c.9009C>T (p.Val3003=) http://identifiers.org/clinvar/290725 ^@ NM_024426.4(WT1):c.1044C>T (p.Ile348=) http://identifiers.org/clinvar/290726 ^@ NM_024301.4(FKRP):c.1352C>T (p.Pro451Leu) http://identifiers.org/clinvar/290727 ^@ NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser) http://identifiers.org/clinvar/290728 ^@ NM_201381.2(PLEC):c.7645C>T (p.Arg2549Trp) http://identifiers.org/clinvar/290729 ^@ NM_000445.4(PLEC):c.10667G>T (p.Arg3556Leu) http://identifiers.org/clinvar/290730 ^@ NM_182961.3(SYNE1):c.8728A>G (p.Asn2910Asp) http://identifiers.org/clinvar/290731 ^@ NM_001267550.2(TTN):c.9108T>C (p.Ala3036=) http://identifiers.org/clinvar/290732 ^@ NM_000070.2(CAPN3):c.853dupG (p.Glu285Glyfs) http://identifiers.org/clinvar/290733 ^@ NM_001101426.3(ISPD):c.1307T>C (p.Leu436Ser) http://identifiers.org/clinvar/290734 ^@ NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly) http://identifiers.org/clinvar/290735 ^@ NM_000138.4(FBN1):c.6682dupT (p.Tyr2228Leufs) http://identifiers.org/clinvar/290736 ^@ NM_020366.3(RPGRIP1):c.3649G>A (p.Asp1217Asn) http://identifiers.org/clinvar/290737 ^@ NM_172364.4(CACNA2D4):c.2054+4A>T http://identifiers.org/clinvar/290738 ^@ NM_001130987.1(DYSF):c.631G>A (p.Gly211Ser) http://identifiers.org/clinvar/290739 ^@ NM_001128227.2(GNE):c.1822C>A (p.Pro608Thr) http://identifiers.org/clinvar/290740 ^@ NM_172364.4(CACNA2D4):c.1968C>T (p.His656=) http://identifiers.org/clinvar/290741 ^@ NM_000350.2(ABCA4):c.4254-5T>G http://identifiers.org/clinvar/290742 ^@ NM_000169.2(GLA):c.127G>A (p.Gly43Ser) http://identifiers.org/clinvar/290743 ^@ NM_014780.4(CUL7):c.4659G>A (p.Glu1553=) http://identifiers.org/clinvar/290744 ^@ NM_014780.4(CUL7):c.2645G>A (p.Arg882Gln) http://identifiers.org/clinvar/290745 ^@ NM_003494.3(DYSF):c.2039G>T (p.Gly680Val) http://identifiers.org/clinvar/290746 ^@ NM_182961.3(SYNE1):c.5236T>C (p.Trp1746Arg) http://identifiers.org/clinvar/290747 ^@ NM_015512.4(DNAH1):c.1351A>G (p.Lys451Glu) http://identifiers.org/clinvar/290748 ^@ NM_020223.3(FAM20C):c.200C>A (p.Pro67His) http://identifiers.org/clinvar/290749 ^@ NM_004260.3(RECQL4):c.213+6delC http://identifiers.org/clinvar/290750 ^@ NM_005220.2(DLX3):c.82G>T (p.Asp28Tyr) http://identifiers.org/clinvar/290751 ^@ NM_153819.1(RASGRP2):c.17A>G (p.Asp6Gly) http://identifiers.org/clinvar/290752 ^@ NM_001080463.1(DYNC2H1):c.7877A>G (p.Asp2626Gly) http://identifiers.org/clinvar/290753 ^@ NM_006907.3(PYCR1):c.540C>T (p.Tyr180=) http://identifiers.org/clinvar/290754 ^@ NM_001080463.1(DYNC2H1):c.5047C>T (p.Leu1683Phe) http://identifiers.org/clinvar/290755 ^@ NM_017653.3(DYM):c.288-10G>A http://identifiers.org/clinvar/290756 ^@ NM_004608.3(TBX6):c.298C>T (p.Leu100=) http://identifiers.org/clinvar/290757 ^@ NM_147127.4(EVC2):c.2254C>T (p.Arg752Trp) http://identifiers.org/clinvar/290758 ^@ NM_001173467.2(SP7):c.55A>G (p.Met19Val) http://identifiers.org/clinvar/290759 ^@ NM_005529.6(HSPG2):c.8586G>C (p.Lys2862Asn) http://identifiers.org/clinvar/290760 ^@ NM_001080463.1(DYNC2H1):c.5798A>G (p.Glu1933Gly) http://identifiers.org/clinvar/290761 ^@ NM_080680.2(COL11A2):c.3182G>A (p.Arg1061Gln) http://identifiers.org/clinvar/290762 ^@ NM_002334.3(LRP4):c.1787A>G (p.His596Arg) http://identifiers.org/clinvar/290763 ^@ NM_005529.6(HSPG2):c.4413C>T (p.Pro1471=) http://identifiers.org/clinvar/290764 ^@ NM_001080463.1(DYNC2H1):c.10220G>A (p.Arg3407Gln) http://identifiers.org/clinvar/290765 ^@ NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) http://identifiers.org/clinvar/290766 ^@ NM_000346.3(SOX9):c.1029G>A (p.Pro343=) http://identifiers.org/clinvar/290767 ^@ NM_001159772.1(CANT1):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/290768 ^@ NM_207122.1(EXT2):c.1645C>T (p.Leu549=) http://identifiers.org/clinvar/290769 ^@ NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr) http://identifiers.org/clinvar/290770 ^@ NM_005529.6(HSPG2):c.7337C>T (p.Ser2446Leu) http://identifiers.org/clinvar/290771 ^@ NM_003659.3(AGPS):c.638-7T>C http://identifiers.org/clinvar/290772 ^@ NM_024408.3(NOTCH2):c.7042T>C (p.Leu2348=) http://identifiers.org/clinvar/290773 ^@ NM_006129.4(BMP1):c.2590G>T (p.Val864Leu) http://identifiers.org/clinvar/290774 ^@ NM_001844.4(COL2A1):c.1636G>A (p.Gly546Ser) http://identifiers.org/clinvar/290775 ^@ NM_001235.3(SERPINH1):c.92G>C (p.Gly31Ala) http://identifiers.org/clinvar/290776 ^@ NM_004407.3(DMP1):c.1107C>T (p.Asp369=) http://identifiers.org/clinvar/290777 ^@ NM_001025295.2(IFITM5):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/290778 ^@ NM_003839.3(TNFRSF11A):c.1037A>G (p.Glu346Gly) http://identifiers.org/clinvar/290779 ^@ NM_001177317.1(SLC34A3):c.1074G>A (p.Val358=) http://identifiers.org/clinvar/290780 ^@ NM_024408.3(NOTCH2):c.5329C>T (p.Leu1777Phe) http://identifiers.org/clinvar/290781 ^@ NM_014780.4(CUL7):c.785C>T (p.Ser262Leu) http://identifiers.org/clinvar/290782 ^@ NM_002181.3(IHH):c.1051G>A (p.Val351Met) http://identifiers.org/clinvar/290783 ^@ NM_015311.2(OBSL1):c.3962G>T (p.Gly1321Val) http://identifiers.org/clinvar/290784 ^@ NM_001457.3(FLNB):c.1212G>A (p.Leu404=) http://identifiers.org/clinvar/290785 ^@ NM_001038603.2(MARVELD2):c.808A>C (p.Ile270Leu) http://identifiers.org/clinvar/290786 ^@ NM_001039141.2(TRIOBP):c.2201C>T (p.Ser734Phe) http://identifiers.org/clinvar/290787 ^@ NM_004999.3(MYO6):c.3791A>G (p.Asn1264Ser) http://identifiers.org/clinvar/290788 ^@ NM_017780.3(CHD7):c.1188G>T (p.Met396Ile) http://identifiers.org/clinvar/290789 ^@ NM_004817.3(TJP2):c.2880+17C>T http://identifiers.org/clinvar/290790 ^@ NM_032119.3(ADGRV1):c.5537T>C (p.Val1846Ala) http://identifiers.org/clinvar/290791 ^@ NM_032119.3(ADGRV1):c.3819G>A (p.Arg1273=) http://identifiers.org/clinvar/290792 ^@ NM_001145809.1(MYH14):c.4740C>T (p.Asp1580=) http://identifiers.org/clinvar/290793 ^@ NM_033056.3(PCDH15):c.521A>G (p.Asn174Ser) http://identifiers.org/clinvar/290794 ^@ NM_153717.2(EVC):c.89C>T (p.Pro30Leu) http://identifiers.org/clinvar/290795 ^@ NM_006037.3(HDAC4):c.2419A>G (p.Ser807Gly) http://identifiers.org/clinvar/290796 ^@ NM_016239.3(MYO15A):c.5651T>A (p.Leu1884Gln) http://identifiers.org/clinvar/290797 ^@ NM_000218.2(KCNQ1):c.1685+9G>A http://identifiers.org/clinvar/290798 ^@ NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) http://identifiers.org/clinvar/290799 ^@ NM_002906.3(RDX):c.1411C>T (p.Pro471Ser) http://identifiers.org/clinvar/290800 ^@ NM_006005.3(WFS1):c.1416C>A (p.Pro472=) http://identifiers.org/clinvar/290801 ^@ NM_004403.2(DFNA5):c.823A>G (p.Ile275Val) http://identifiers.org/clinvar/290802 ^@ NM_001042702.3(DFNB59):c.250T>A (p.Ser84Thr) http://identifiers.org/clinvar/290803 ^@ NM_017433.4(MYO3A):c.1563-7T>C http://identifiers.org/clinvar/290804 ^@ NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys) http://identifiers.org/clinvar/290805 ^@ NM_001145809.1(MYH14):c.3642G>A (p.Glu1214=) http://identifiers.org/clinvar/290806 ^@ NM_022124.5(CDH23):c.3784A>C (p.Thr1262Pro) http://identifiers.org/clinvar/290807 ^@ NM_001039141.2(TRIOBP):c.446C>T (p.Ser149Leu) http://identifiers.org/clinvar/290808 ^@ NM_057176.2(BSND):c.16A>G (p.Thr6Ala) http://identifiers.org/clinvar/290809 ^@ NM_206933.2(USH2A):c.7616C>T (p.Pro2539Leu) http://identifiers.org/clinvar/290810 ^@ NM_144672.3(OTOA):c.921G>A (p.Ala307=) http://identifiers.org/clinvar/290811 ^@ NM_001130823.2(DNMT1):c.2835C>T (p.Asn945=) http://identifiers.org/clinvar/290813 ^@ NM_005219.4(DIAPH1):c.1287G>A (p.Gln429=) http://identifiers.org/clinvar/290814 ^@ NM_022124.5(CDH23):c.6108C>T (p.Ile2036=) http://identifiers.org/clinvar/290815 ^@ NM_144672.3(OTOA):c.1354G>A (p.Ala452Thr) http://identifiers.org/clinvar/290816 ^@ NM_016239.3(MYO15A):c.3989G>A (p.Arg1330His) http://identifiers.org/clinvar/290817 ^@ NM_006005.3(WFS1):c.937C>T (p.His313Tyr) http://identifiers.org/clinvar/290818 ^@ NM_001145809.1(MYH14):c.3940C>T (p.Arg1314Cys) http://identifiers.org/clinvar/290819 ^@ NM_032119.3(ADGRV1):c.5578G>A (p.Ala1860Thr) http://identifiers.org/clinvar/290820 ^@ NM_206883.2(SLC26A5):c.1409C>A (p.Thr470Asn) http://identifiers.org/clinvar/290821 ^@ NM_004999.3(MYO6):c.1631C>T (p.Thr544Ile) http://identifiers.org/clinvar/290822 ^@ NM_000142.4(FGFR3):c.335G>A (p.Arg112Gln) http://identifiers.org/clinvar/290823 ^@ NM_032119.3(ADGRV1):c.4487A>G (p.Tyr1496Cys) http://identifiers.org/clinvar/290824 ^@ NM_017433.4(MYO3A):c.3932C>G (p.Thr1311Ser) http://identifiers.org/clinvar/290825 ^@ NM_032119.3(ADGRV1):c.9635T>C (p.Ile3212Thr) http://identifiers.org/clinvar/290826 ^@ NM_001128228.2(TPRN):c.1830_1844delGGAGGAGGAGGAGGA (p.Glu617_Glu621del) http://identifiers.org/clinvar/290827 ^@ NM_080680.2(COL11A2):c.136G>A (p.Gly46Ser) http://identifiers.org/clinvar/290828 ^@ NM_032119.3(ADGRV1):c.13621G>A (p.Glu4541Lys) http://identifiers.org/clinvar/290829 ^@ NM_022124.5(CDH23):c.8065-8G>A http://identifiers.org/clinvar/290830 ^@ NM_001267550.2(TTN):c.12844A>C (p.Ile4282Leu) http://identifiers.org/clinvar/290831 ^@ NM_001130987.1(DYSF):c.2034G>A (p.Val678=) http://identifiers.org/clinvar/290832 ^@ NM_001848.2(COL6A1):c.2349G>T (p.Arg783=) http://identifiers.org/clinvar/290833 ^@ NM_005183.3(CACNA1F):c.5187C>A (p.Ile1729=) http://identifiers.org/clinvar/290834 ^@ NM_001854.3(COL11A1):c.3979-3T>C http://identifiers.org/clinvar/290835 ^@ NM_177965.3(C8orf37):c.126G>C (p.Arg42=) http://identifiers.org/clinvar/290836 ^@ NM_002420.5(TRPM1):c.2887A>C (p.Met963Leu) http://identifiers.org/clinvar/290837 ^@ NM_133497.3(KCNV2):c.756G>A (p.Lys252=) http://identifiers.org/clinvar/290838 ^@ NM_004385.4(VCAN):c.6844A>G (p.Thr2282Ala) http://identifiers.org/clinvar/290839 ^@ NM_001171971.2(CDHR1):c.833C>T (p.Pro278Leu) http://identifiers.org/clinvar/290840 ^@ NM_001101.3(ACTB):c.168C>T (p.Asp56=) http://identifiers.org/clinvar/290841 ^@ NM_001101.3(ACTB):c.420A>G (p.Leu140=) http://identifiers.org/clinvar/290842 ^@ NM_001243766.1(POMGNT1):c.1813C>T (p.Arg605Cys) http://identifiers.org/clinvar/290843 ^@ NM_024075.4(TSEN34):c.542C>A (p.Ser181Tyr) http://identifiers.org/clinvar/290844 ^@ NM_005045.3(RELN):c.3913-9T>C http://identifiers.org/clinvar/290845 ^@ NM_006009.3(TUBA1A):c.640C>A (p.Arg214Ser) http://identifiers.org/clinvar/290846 ^@ NM_025114.3(CEP290):c.6558T>G (p.His2186Gln) http://identifiers.org/clinvar/290847 ^@ NM_000492.3(CFTR):c.226T>A (p.Cys76Ser) http://identifiers.org/clinvar/290848 ^@ NM_000137.2(FAH):c.831G>A (p.Pro277=) http://identifiers.org/clinvar/290849 ^@ NM_000392.4(ABCC2):c.4071G>C (p.Gln1357His) http://identifiers.org/clinvar/290850 ^@ NM_000392.4(ABCC2):c.4449C>T (p.Phe1483=) http://identifiers.org/clinvar/290851 ^@ NM_003742.2(ABCB11):c.2087G>A (p.Arg696Gln) http://identifiers.org/clinvar/290852 ^@ NM_000834.3(GRIN2B):c.2200G>A (p.Ala734Thr) http://identifiers.org/clinvar/290853 ^@ NM_001206977.1(NR1H4):c.18T>C (p.Asn6=) http://identifiers.org/clinvar/290854 ^@ NM_000271.4(NPC1):c.631+7A>G http://identifiers.org/clinvar/290855 ^@ NM_000780.3(CYP7A1):c.81-10T>C http://identifiers.org/clinvar/290856 ^@ NM_138694.3(PKHD1):c.434C>G (p.Pro145Arg) http://identifiers.org/clinvar/290857 ^@ NM_022436.2(ABCG5):c.1446C>T (p.Phe482=) http://identifiers.org/clinvar/290858 ^@ NM_024408.3(NOTCH2):c.5218C>A (p.Leu1740Ile) http://identifiers.org/clinvar/290859 ^@ NM_138694.3(PKHD1):c.7377T>G (p.Ile2459Met) http://identifiers.org/clinvar/290860 ^@ NM_000392.4(ABCC2):c.1321C>A (p.Leu441Met) http://identifiers.org/clinvar/290861 ^@ NM_000392.4(ABCC2):c.1344T>G (p.Ile448Met) http://identifiers.org/clinvar/290862 ^@ NM_000392.4(ABCC2):c.3399_3400delTT (p.Tyr1134Cysfs) http://identifiers.org/clinvar/290863 ^@ NM_003640.4(IKBKAP):c.3152C>T (p.Thr1051Ile) http://identifiers.org/clinvar/290864 ^@ NM_002977.3(SCN9A):c.1942-8T>A http://identifiers.org/clinvar/290865 ^@ NM_000253.3(MTTP):c.1715A>G (p.Asn572Ser) http://identifiers.org/clinvar/290866 ^@ NM_002506.2(NGF):c.106C>A (p.His36Asn) http://identifiers.org/clinvar/290867 ^@ NM_000052.6(ATP7A):c.3416A>G (p.Asp1139Gly) http://identifiers.org/clinvar/290868 ^@ NM_014363.5(SACS):c.4279C>A (p.Pro1427Thr) http://identifiers.org/clinvar/290869 ^@ NM_000426.3(LAMA2):c.3014A>G (p.Asn1005Ser) http://identifiers.org/clinvar/290870 ^@ NM_001271208.1(NEB):c.4835G>A (p.Arg1612His) http://identifiers.org/clinvar/290871 ^@ NM_033071.3(SYNE1):c.14320C>T (p.His4774Tyr) http://identifiers.org/clinvar/290872 ^@ NM_000303.2(PMM2):c.93C>T (p.Phe31=) http://identifiers.org/clinvar/290873 ^@ NM_001458.4(FLNC):c.5418G>A (p.Ser1806=) http://identifiers.org/clinvar/290874 ^@ NM_000036.2(AMPD1):c.243G>A (p.Pro81=) http://identifiers.org/clinvar/290875 ^@ NM_001271208.1(NEB):c.10860C>A (p.Asp3620Glu) http://identifiers.org/clinvar/290876 ^@ NM_001037633.1(SIL1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/290877 ^@ NM_007126.3(VCP):c.1197A>G (p.Val399=) http://identifiers.org/clinvar/290878 ^@ NM_001271208.1(NEB):c.1550A>G (p.Asn517Ser) http://identifiers.org/clinvar/290879 ^@ NM_139343.2(BIN1):c.715G>A (p.Val239Ile) http://identifiers.org/clinvar/290880 ^@ NM_182961.3(SYNE1):c.13209G>A (p.Ser4403=) http://identifiers.org/clinvar/41241 ^@ NM_007055.3(POLR3A):c.1674C>G (p.Phe558Leu) http://identifiers.org/clinvar/41242 ^@ NM_007055.3(POLR3A):c.1907C>A (p.Ser636Tyr) http://identifiers.org/clinvar/41243 ^@ NM_007055.3(POLR3A):c.2171G>A (p.Cys724Tyr) http://identifiers.org/clinvar/41244 ^@ NM_007055.3(POLR3A):c.2324A>T (p.Asn775Ile) http://identifiers.org/clinvar/41245 ^@ NM_007055.3(POLR3A):c.2830G>T (p.Glu944Ter) http://identifiers.org/clinvar/41246 ^@ NM_007055.3(POLR3A):c.3014G>A (p.Arg1005His) http://identifiers.org/clinvar/41247 ^@ NM_007055.3(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) http://identifiers.org/clinvar/41248 ^@ NM_007055.3(POLR3A):c.3991G>A (p.Ala1331Thr) http://identifiers.org/clinvar/41249 ^@ NM_007055.3(POLR3A):c.4006C>T (p.Gln1336Ter) http://identifiers.org/clinvar/41250 ^@ NM_014646.2(LPIN2):c.1316_1317delCT (p.Ser439Trpfs) http://identifiers.org/clinvar/41251 ^@ NM_018081.2(WRAP53):c.1303G>A (p.Gly435Arg) http://identifiers.org/clinvar/41252 ^@ NM_018081.2(WRAP53):c.492C>A (p.Phe164Leu) http://identifiers.org/clinvar/41253 ^@ NM_024312.4(GNPTAB):c.1402T>A (p.Cys468Ser) http://identifiers.org/clinvar/41254 ^@ NM_024312.4(GNPTAB):c.2189delT (p.Leu730Cysfs) http://identifiers.org/clinvar/41255 ^@ NM_024312.4(GNPTAB):c.2591_2592insG (p.Asn865Lysfs) http://identifiers.org/clinvar/41256 ^@ NM_024312.4(GNPTAB):c.3053A>G (p.Asp1018Gly) http://identifiers.org/clinvar/41257 ^@ NM_024312.4(GNPTAB):c.3336-1G>C http://identifiers.org/clinvar/41258 ^@ NM_024408.3(NOTCH2):c.1117T>C (p.Cys373Arg) http://identifiers.org/clinvar/41259 ^@ NM_024408.3(NOTCH2):c.1147C>T (p.Pro383Ser) http://identifiers.org/clinvar/41260 ^@ NM_024408.3(NOTCH2):c.1180C>T (p.Pro394Ser) http://identifiers.org/clinvar/41261 ^@ NM_024408.3(NOTCH2):c.1438T>C (p.Cys480Arg) http://identifiers.org/clinvar/41262 ^@ NM_024408.3(NOTCH2):c.2566_2567delAG (p.Ser856Leufs) http://identifiers.org/clinvar/41263 ^@ NM_024408.3(NOTCH2):c.5857C>T (p.Arg1953Cys) http://identifiers.org/clinvar/41264 ^@ NM_024408.3(NOTCH2):c.5858G>A (p.Arg1953His) http://identifiers.org/clinvar/41266 ^@ NM_024408.3(NOTCH2):c.6007C>T (p.Arg2003Ter) http://identifiers.org/clinvar/41267 ^@ NM_024757.4(EHMT1):c.3181-80_3233del http://identifiers.org/clinvar/41268 ^@ NM_025137.3(SPG11):c.1203delA (p.Asp402Ilefs) http://identifiers.org/clinvar/41269 ^@ NM_025137.3(SPG11):c.1235C>G (p.Ser412Ter) http://identifiers.org/clinvar/41270 ^@ NM_025137.3(SPG11):c.1282A>T (p.Lys428Ter) http://identifiers.org/clinvar/41271 ^@ NM_025137.3(SPG11):c.1388T>C (p.Phe463Ser) http://identifiers.org/clinvar/41272 ^@ NM_025137.3(SPG11):c.1457-2A>G http://identifiers.org/clinvar/41273 ^@ NM_025137.3(SPG11):c.1471_1472delCT (p.Leu491Aspfs) http://identifiers.org/clinvar/41274 ^@ NM_025137.3(SPG11):c.1549_1550delCT (p.Cys518Serfs) http://identifiers.org/clinvar/41275 ^@ NM_025137.3(SPG11):c.1550_1551delTT (p.Cys518Serfs) http://identifiers.org/clinvar/41276 ^@ NM_025137.3(SPG11):c.1603-139G= http://identifiers.org/clinvar/41277 ^@ NM_025137.3(SPG11):c.1603-141C= http://identifiers.org/clinvar/41278 ^@ NM_025137.3(SPG11):c.1668delT (p.Phe556Leufs) http://identifiers.org/clinvar/41279 ^@ NM_025137.3(SPG11):c.1679C>G (p.Ser560Ter) http://identifiers.org/clinvar/41280 ^@ NM_025137.3(SPG11):c.1697_1712del16insTACTCCCAT (p.Asp566Valfs) http://identifiers.org/clinvar/41281 ^@ NM_025137.3(SPG11):c.1735+3_1735+6delAAGT http://identifiers.org/clinvar/41282 ^@ NM_025137.3(SPG11):c.1837_1838insA (p.Leu613Hisfs) http://identifiers.org/clinvar/41283 ^@ NM_025137.3(SPG11):c.1845_1846delGT (p.Ser616Phefs) http://identifiers.org/clinvar/41284 ^@ NM_025137.3(SPG11):c.1951C>T (p.Arg651Ter) http://identifiers.org/clinvar/41285 ^@ NM_025137.3(SPG11):c.2146C>T (p.Gln716Ter) http://identifiers.org/clinvar/41286 ^@ NM_025137.3(SPG11):c.2163dupT (p.Ile722Tyrfs) http://identifiers.org/clinvar/41287 ^@ NM_025137.3(SPG11):c.2198T>G (p.Leu733Ter) http://identifiers.org/clinvar/41288 ^@ NM_025137.3(SPG11):c.2316+1G>A http://identifiers.org/clinvar/41289 ^@ NM_025137.3(SPG11):c.2355_2356delAG (p.Arg788Asnfs) http://identifiers.org/clinvar/41290 ^@ NM_025137.3(SPG11):c.2444+1G>C http://identifiers.org/clinvar/41291 ^@ NM_025137.3(SPG11):c.2444G>T (p.Arg815Met) http://identifiers.org/clinvar/41293 ^@ NM_025137.3(SPG11):c.2608A>G (p.Ile870Val) http://identifiers.org/clinvar/41294 ^@ NM_025137.3(SPG11):c.267G>A (p.Trp89Ter) http://identifiers.org/clinvar/41295 ^@ NM_025137.3(SPG11):c.268G>T (p.Glu90Ter) http://identifiers.org/clinvar/41296 ^@ NM_025137.3(SPG11):c.2697G>A (p.Trp899Ter) http://identifiers.org/clinvar/41297 ^@ NM_025137.3(SPG11):c.2716delC (p.Gln906Serfs) http://identifiers.org/clinvar/41298 ^@ NM_025137.3(SPG11):c.2833A>G (p.Arg945Gly) http://identifiers.org/clinvar/41299 ^@ NM_025137.3(SPG11):c.2834+1G>T http://identifiers.org/clinvar/41300 ^@ NM_025137.3(SPG11):c.2842dupG (p.Val948Glyfs) http://identifiers.org/clinvar/41301 ^@ NM_025137.3(SPG11):c.2849dupT (p.Leu950Phefs) http://identifiers.org/clinvar/41303 ^@ NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs) http://identifiers.org/clinvar/41304 ^@ NM_025137.3(SPG11):c.3291+1G>T http://identifiers.org/clinvar/41305 ^@ NM_025137.3(SPG11):c.3420G>A (p.Leu1140=) http://identifiers.org/clinvar/41306 ^@ NM_025137.3(SPG11):c.349G>T (p.Glu117Ter) http://identifiers.org/clinvar/41307 ^@ NM_025137.3(SPG11):c.359delT (p.Leu120Terfs) http://identifiers.org/clinvar/41308 ^@ NM_025137.3(SPG11):c.3602_3603delAT (p.Tyr1201Leufs) http://identifiers.org/clinvar/41309 ^@ NM_025137.3(SPG11):c.3664_3665insT (p.Lys1222Ilefs) http://identifiers.org/clinvar/41310 ^@ NM_025137.3(SPG11):c.3719_3720delTA (p.Ile1240Argfs) http://identifiers.org/clinvar/41311 ^@ NM_025137.3(SPG11):c.3741dupA (p.Pro1248Thrfs) http://identifiers.org/clinvar/41312 ^@ NM_025137.3(SPG11):c.398delG (p.Cys133Leufs) http://identifiers.org/clinvar/41313 ^@ NM_025137.3(SPG11):c.4046T>A (p.Phe1349Tyr) http://identifiers.org/clinvar/41314 ^@ NM_025137.3(SPG11):c.408_428del21 (p.Glu136_Ile142del) http://identifiers.org/clinvar/41315 ^@ NM_025137.3(SPG11):c.4307_4308delAA (p.Gln1436Argfs) http://identifiers.org/clinvar/41317 ^@ NM_025137.3(SPG11):c.4461_4462delTG (p.Val1488Leufs) http://identifiers.org/clinvar/41318 ^@ NM_025137.3(SPG11):c.4668T>A (p.Tyr1556Ter) http://identifiers.org/clinvar/41319 ^@ NM_025137.3(SPG11):c.4846C>T (p.Gln1616Ter) http://identifiers.org/clinvar/41320 ^@ NM_025137.3(SPG11):c.5255delT (p.Phe1752Serfs) http://identifiers.org/clinvar/41322 ^@ NM_025137.3(SPG11):c.5399_5402delAGATinsTGGAGGAG (p.Gln1800Leufs) http://identifiers.org/clinvar/41323 ^@ NM_025137.3(SPG11):c.5410_5411delTG (p.Cys1804Profs) http://identifiers.org/clinvar/41324 ^@ NM_025137.3(SPG11):c.5470C>T (p.Arg1824Ter) http://identifiers.org/clinvar/41325 ^@ NM_025137.3(SPG11):c.5532_5533delCA (p.Lys1845Valfs) http://identifiers.org/clinvar/41326 ^@ NM_025137.3(SPG11):c.5703delT (p.His1902Ilefs) http://identifiers.org/clinvar/41327 ^@ NM_025137.3(SPG11):c.5769delT (p.Ser1923Argfs) http://identifiers.org/clinvar/41328 ^@ NM_025137.3(SPG11):c.5798delC (p.Ala1933Valfs) http://identifiers.org/clinvar/41329 ^@ NM_025137.3(SPG11):c.5867-3237_6478-451del8323 http://identifiers.org/clinvar/41330 ^@ NM_025137.3(SPG11):c.5870C>G (p.Ser1957Ter) http://identifiers.org/clinvar/41331 ^@ NM_025137.3:c.5898+5493_6509-491del http://identifiers.org/clinvar/41332 ^@ NM_025137.3(SPG11):c.5970C>G (p.Tyr1990Ter) http://identifiers.org/clinvar/41333 ^@ NM_025137.3(SPG11):c.5974C>T (p.Arg1992Ter) http://identifiers.org/clinvar/41334 ^@ NM_025137.3(SPG11):c.5977C>T (p.Gln1993Ter) http://identifiers.org/clinvar/41335 ^@ NM_025137.3(SPG11):c.5989_5992delCTGT (p.Leu1997Metfs) http://identifiers.org/clinvar/41336 ^@ NM_025137.3(SPG11):c.5986dupT (p.Cys1996Leufs) http://identifiers.org/clinvar/41337 ^@ NM_025137.3:c.5987_5990dupCTCT http://identifiers.org/clinvar/41339 ^@ NM_025137.3(SPG11):c.5992dupT (p.Tyr1998Leufs) http://identifiers.org/clinvar/41340 ^@ NM_025137.3(SPG11):c.6091C>T (p.Arg2031Ter) http://identifiers.org/clinvar/41341 ^@ NM_025137.3(SPG11):c.6157G>A (p.Val2053Met) http://identifiers.org/clinvar/41342 ^@ NM_025137.3(SPG11):c.6206-1G>C http://identifiers.org/clinvar/41343 ^@ NM_025137.3(SPG11):c.642delT (p.Phe214Leufs) http://identifiers.org/clinvar/41344 ^@ NM_025137.3(SPG11):c.6451delG (p.Ala2151Profs) http://identifiers.org/clinvar/41345 ^@ NM_025137.3(SPG11):c.6477+4A>G http://identifiers.org/clinvar/41346 ^@ NM_025137.3(SPG11):c.654_655delTTinsG (p.Ser218Argfs) http://identifiers.org/clinvar/41347 ^@ NM_025137.3(SPG11):c.6737_6740delTTGA (p.Ile2246Serfs) http://identifiers.org/clinvar/41348 ^@ NM_025137.3(SPG11):c.6739_6742delGAGT (p.Glu2247Leufs) http://identifiers.org/clinvar/41349 ^@ NM_025137.3:c.6754+4insTG http://identifiers.org/clinvar/41350 ^@ NM_025137.3(SPG11):c.6790dupC (p.Leu2264Profs) http://identifiers.org/clinvar/41351 ^@ NM_025137.3(SPG11):c.6832_6833delAG (p.Ser2278Leufs) http://identifiers.org/clinvar/41352 ^@ NM_025137.3(SPG11):c.6843+62C>T http://identifiers.org/clinvar/41353 ^@ NM_025137.3(SPG11):c.6856C>T (p.Arg2286Ter) http://identifiers.org/clinvar/41354 ^@ NM_025137.3(SPG11):c.6898_6899delCT (p.Leu2300Alafs) http://identifiers.org/clinvar/41355 ^@ NM_025137.3(SPG11):c.7000-3_7000-2insGGA http://identifiers.org/clinvar/41356 ^@ NM_025137.3(SPG11):c.7023C>A (p.Tyr2341Ter) http://identifiers.org/clinvar/41357 ^@ NM_025137.3(SPG11):c.7023C>T (p.Tyr2341=) http://identifiers.org/clinvar/41358 ^@ NM_025137.3(SPG11):c.7029dupT (p.Val2344Cysfs) http://identifiers.org/clinvar/41359 ^@ NM_025137.3(SPG11):c.704_705delAT (p.His235Argfs) http://identifiers.org/clinvar/41360 ^@ NM_025137.3(SPG11):c.7088_7089insATTA (p.Tyr2363Terfs) http://identifiers.org/clinvar/41361 ^@ NM_025137.3(SPG11):c.7101dupT (p.Lys2368Terfs) http://identifiers.org/clinvar/41362 ^@ NM_025137.3(SPG11):c.7151+4_7151+7delAGTA http://identifiers.org/clinvar/41364 ^@ NM_025137.3(SPG11):c.7156_7157insAAAC (p.Gln2387Thrfs) http://identifiers.org/clinvar/41366 ^@ NM_025137.3(SPG11):c.808G>A (p.Val270Ile) http://identifiers.org/clinvar/41367 ^@ NM_025137.3(SPG11):c.869+1G>A http://identifiers.org/clinvar/41368 ^@ NM_025137.3(SPG11):c.5454_5455delAG (p.Glu1819Alafs) http://identifiers.org/clinvar/41370 ^@ NM_152594.2(SPRED1):c.1044T>C (p.Val348=) http://identifiers.org/clinvar/41371 ^@ NM_152594.2(SPRED1):c.291G>A (p.Lys97=) http://identifiers.org/clinvar/41372 ^@ NM_152594.2(SPRED1):c.424-8C= http://identifiers.org/clinvar/41373 ^@ NM_152594.2(SPRED1):c.424-98T= http://identifiers.org/clinvar/41375 ^@ NM_173500.3(TTBK2):c.1306_1307delGA (p.Asp436Tyrfs) http://identifiers.org/clinvar/41376 ^@ NM_016941.3(DLL3):c.1547G>T (p.Arg516Leu) http://identifiers.org/clinvar/41377 ^@ NM_016941.3(DLL3):c.425T>A (p.Leu142Gln) http://identifiers.org/clinvar/41378 ^@ NM_016941.3(DLL3):c.515T>G (p.Phe172Cys) http://identifiers.org/clinvar/41379 ^@ NM_016941.3(DLL3):c.653T>C (p.Leu218Pro) http://identifiers.org/clinvar/41380 ^@ NM_212472.2(PRKAR1A):c.101_105delCTATT (p.Ser34Cysfs) http://identifiers.org/clinvar/41381 ^@ NM_212472.2(PRKAR1A):c.109C>T (p.Gln37Ter) http://identifiers.org/clinvar/41382 ^@ NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter) http://identifiers.org/clinvar/41383 ^@ NM_212472.2(PRKAR1A):c.139delA (p.Met47Trpfs) http://identifiers.org/clinvar/41384 ^@ NM_212472.2(PRKAR1A):c.178-2A>G http://identifiers.org/clinvar/41385 ^@ NM_212472.2(PRKAR1A):c.178_348del171 (p.Glu60_Lys116del) http://identifiers.org/clinvar/41386 ^@ NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) http://identifiers.org/clinvar/41387 ^@ NM_212472.2(PRKAR1A):c.348+1G>C http://identifiers.org/clinvar/41388 ^@ NM_212472.2(PRKAR1A):c.550-9_550-2delGCACTTTA http://identifiers.org/clinvar/41389 ^@ NM_212472.2(PRKAR1A):c.566_567delAAinsCAC (p.Glu189Alafs) http://identifiers.org/clinvar/41390 ^@ NM_212472.2(PRKAR1A):c.638C>A (p.Ala213Asp) http://identifiers.org/clinvar/41391 ^@ NM_212472.2(PRKAR1A):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/41392 ^@ NM_212472.2(PRKAR1A):c.693dupT (p.Arg232Terfs) http://identifiers.org/clinvar/41393 ^@ NM_212472.2(PRKAR1A):c.711_712dupAA (p.Ser238Lysfs) http://identifiers.org/clinvar/41394 ^@ NM_212472.2(PRKAR1A):c.82C>T (p.Gln28Ter) http://identifiers.org/clinvar/41395 ^@ NM_212472.2(PRKAR1A):c.846_847insA (p.Val283Serfs) http://identifiers.org/clinvar/41396 ^@ NM_212472.2(PRKAR1A):c.85_95delGCGCTGCTCAA (p.Ala29Argfs) http://identifiers.org/clinvar/41399 ^@ NM_025137.3(SPG11):c.1492C>T (p.Gln498Ter) http://identifiers.org/clinvar/41400 ^@ NR_001566.1(TERC):n.-100C>G http://identifiers.org/clinvar/41402 ^@ del(15)(q15.1-q15.3) http://identifiers.org/clinvar/41403 ^@ g.96677_99386del2710 http://identifiers.org/clinvar/41405 ^@ ~550-kb deletion at 16p11.2 http://identifiers.org/clinvar/41406 ^@ NLRP7, 14-BP DUP, NT939 http://identifiers.org/clinvar/41407 ^@ NM_001127255.1(NLRP7):c.2030delT (p.Leu677Profs) http://identifiers.org/clinvar/41408 ^@ NM_013319.2(UBIAD1):c.530G>A (p.Gly177Glu) http://identifiers.org/clinvar/41409 ^@ NM_000138.4(FBN1):c.4253_4259delGCCAGTG (p.Gly1418Alafs) http://identifiers.org/clinvar/41410 ^@ TERT, -57, T-G http://identifiers.org/clinvar/41411 ^@ NM_005857.4(ZMPSTE24):c.50delA (p.Lys17Serfs) http://identifiers.org/clinvar/41412 ^@ NM_005857.4(ZMPSTE24):c.584_585delAT (p.Tyr195Phefs) http://identifiers.org/clinvar/41413 ^@ MSH2, 3.5-KB DEL AND 15-BP INS http://identifiers.org/clinvar/41414 ^@ MSH2, 19.28-KB DEL http://identifiers.org/clinvar/41417 ^@ NM_006231.3(POLE):c.4444+3A>G http://identifiers.org/clinvar/41418 ^@ LRSAM1, IVS24AS, G-A, -1 http://identifiers.org/clinvar/41419 ^@ TRAPPC9, IVS17AS, A-C, -2 http://identifiers.org/clinvar/41420 ^@ NM_001080477.3(TENM3):c.2083dupA (p.Thr695Asnfs) http://identifiers.org/clinvar/41422 ^@ NM_000942.4(PPIB):c.563_566delACAG (p.Asp188Alafs) http://identifiers.org/clinvar/41423 ^@ NM_006744.3(RBP4):c.111+1G>A http://identifiers.org/clinvar/41424 ^@ PLOD2, 1-BP DUP, 1559C http://identifiers.org/clinvar/41425 ^@ NM_021939.3(FKBP10):c.1271_1272delCCinsA (p.Ala424Aspfs) http://identifiers.org/clinvar/41426 ^@ NM_001159772.1(CANT1):c.-286+1G>A http://identifiers.org/clinvar/41439 ^@ PPM1K, 2-BP DEL, 417TA http://identifiers.org/clinvar/41442 ^@ NM_002834.4(PTPN11):c.178G>T (p.Gly60Cys) http://identifiers.org/clinvar/41443 ^@ NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) http://identifiers.org/clinvar/41445 ^@ NM_004333.4(BRAF):c.-19C>T http://identifiers.org/clinvar/41446 ^@ NM_004333.4(BRAF):c.1801A>C (p.Lys601Gln) http://identifiers.org/clinvar/41447 ^@ NM_004333.4(BRAF):c.2127+3A>G http://identifiers.org/clinvar/41448 ^@ NM_004333.4(BRAF):c.95_100dupGCGCCG (p.Ala33_Ala34insGlyAla) http://identifiers.org/clinvar/41449 ^@ NM_004985.4(KRAS):c.519T>C (p.Asp173=) http://identifiers.org/clinvar/41450 ^@ NM_007373.3(SHOC2):c.1161+42T>C http://identifiers.org/clinvar/41451 ^@ NM_152594.2(SPRED1):c.208-18G>A http://identifiers.org/clinvar/41452 ^@ NM_152594.2(SPRED1):c.424-18G>A http://identifiers.org/clinvar/41453 ^@ NM_152594.2(SPRED1):c.424-8C>A http://identifiers.org/clinvar/41454 ^@ NM_152594.2(SPRED1):c.684+50A>T http://identifiers.org/clinvar/41457 ^@ NM_000307.4(POU3F4):c.950dupT (p.Leu317Phefs) http://identifiers.org/clinvar/41458 ^@ NM_000307.4(POU3F4):c.1060delA (p.Thr354Glnfs) http://identifiers.org/clinvar/41459 ^@ SYNGAP1, 1-BP DEL, 2677C http://identifiers.org/clinvar/41460 ^@ SYNGAP1, IVS13DS, G-A, +1 http://identifiers.org/clinvar/41461 ^@ SYNGAP1, TRP362ARG http://identifiers.org/clinvar/41462 ^@ NM_006772.2(SYNGAP1):c.1685C>T (p.Pro562Leu) http://identifiers.org/clinvar/41463 ^@ NM_006587.3(CORIN):c.1615C>T (p.Arg539Cys) http://identifiers.org/clinvar/41464 ^@ NM_003156.3(STIM1):c.1285C>T (p.Arg429Cys) http://identifiers.org/clinvar/41465 ^@ NM_024589.2(ROGDI):c.507delC (p.Glu170Argfs) http://identifiers.org/clinvar/41466 ^@ NG_032174.1:g.5461_5468delGGCGGGGC http://identifiers.org/clinvar/41467 ^@ NM_024589.2(ROGDI):c.45+9_45+20delCGCGGGCCAGCG http://identifiers.org/clinvar/41469 ^@ NM_000088.3(COL1A1):c.4247delC (p.Thr1416Argfs) http://identifiers.org/clinvar/41470 ^@ NM_000088.3(COL1A1):c.4160C>T (p.Ala1387Val) http://identifiers.org/clinvar/41471 ^@ NM_002241.4(KCNJ10):c.524G>A (p.Arg175Gln) http://identifiers.org/clinvar/41472 ^@ NM_003265.2(TLR3):c.1234C>T (p.Leu412Phe) http://identifiers.org/clinvar/41473 ^@ NM_021939.3(FKBP10):c.337G>A (p.Glu113Lys) http://identifiers.org/clinvar/41475 ^@ LARP7, LYS276fs http://identifiers.org/clinvar/41477 ^@ DNA2, ARG284HIS http://identifiers.org/clinvar/41478 ^@ DNA2, LYS313GLU http://identifiers.org/clinvar/41479 ^@ DNA2, VAL723ILE http://identifiers.org/clinvar/41480 ^@ NM_022173.2(TIA1):c.1150G>A (p.Glu384Lys) http://identifiers.org/clinvar/41481 ^@ NM_003156.3(STIM1):c.251A>G (p.Asp84Gly) http://identifiers.org/clinvar/41482 ^@ NM_003156.3(STIM1):c.325C>A (p.His109Asn) http://identifiers.org/clinvar/41483 ^@ NM_003156.3(STIM1):c.326A>G (p.His109Arg) http://identifiers.org/clinvar/41484 ^@ NM_003156.3(STIM1):c.216C>A (p.His72Gln) http://identifiers.org/clinvar/41485 ^@ NM_020944.2(GBA2):c.1888C>T (p.Arg630Trp) http://identifiers.org/clinvar/41486 ^@ NM_020944.2(GBA2):c.700C>T (p.Arg234Ter) http://identifiers.org/clinvar/41487 ^@ GBA2, TRP173TER http://identifiers.org/clinvar/41488 ^@ GBA2, 4-BP DUP, 1471GGCA http://identifiers.org/clinvar/41489 ^@ NM_020944.2(GBA2):c.1018C>T (p.Arg340Ter) http://identifiers.org/clinvar/41490 ^@ NM_020944.2(GBA2):c.2618G>A (p.Arg873His) http://identifiers.org/clinvar/41491 ^@ GBA2, TYR121TER http://identifiers.org/clinvar/41495 ^@ NM_000123.3(ERCC5):c.83C>A (p.Ala28Asp) http://identifiers.org/clinvar/41496 ^@ NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) http://identifiers.org/clinvar/41497 ^@ OXCT1, IVS13DS, G-A, +5 http://identifiers.org/clinvar/41499 ^@ NM_000038.5(APC):c.2438A>G (p.Asn813Ser) http://identifiers.org/clinvar/41500 ^@ NM_000038.5(APC):c.2608C>T (p.Pro870Ser) http://identifiers.org/clinvar/41501 ^@ NM_000038.5(APC):c.2677G>A (p.Glu893Lys) http://identifiers.org/clinvar/41502 ^@ NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) http://identifiers.org/clinvar/41503 ^@ NM_000038.5(APC):c.3479C>A (p.Thr1160Lys) http://identifiers.org/clinvar/41504 ^@ NM_000038.5(APC):c.379A>G (p.Ser127Gly) http://identifiers.org/clinvar/41505 ^@ NM_000038.5(APC):c.388A>G (p.Ser130Gly) http://identifiers.org/clinvar/41506 ^@ NM_000038.5(APC):c.4384A>G (p.Lys1462Glu) http://identifiers.org/clinvar/41507 ^@ NM_000038.5(APC):c.5170C>G (p.Leu1724Val) http://identifiers.org/clinvar/41508 ^@ NM_000038.5(APC):c.5225G>A (p.Arg1742His) http://identifiers.org/clinvar/41509 ^@ NM_000038.5(APC):c.607C>G (p.Gln203Glu) http://identifiers.org/clinvar/41510 ^@ NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) http://identifiers.org/clinvar/41511 ^@ NM_000038.5(APC):c.6821C>T (p.Ala2274Val) http://identifiers.org/clinvar/41512 ^@ NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) http://identifiers.org/clinvar/41513 ^@ NM_000038.5(APC):c.7415C>T (p.Ala2472Val) http://identifiers.org/clinvar/41514 ^@ NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) http://identifiers.org/clinvar/41515 ^@ NM_000038.5(APC):c.7766A>G (p.Glu2589Gly) http://identifiers.org/clinvar/41516 ^@ NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) http://identifiers.org/clinvar/41517 ^@ NM_000038.5(APC):c.7888G>A (p.Val2630Ile) http://identifiers.org/clinvar/41518 ^@ NM_000038.5(APC):c.1495C>G (p.Arg499Gly) http://identifiers.org/clinvar/41519 ^@ NM_000038.5(APC):c.1604C>T (p.Ser535Phe) http://identifiers.org/clinvar/41520 ^@ NM_000038.5(APC):c.1631T>C (p.Ile544Thr) http://identifiers.org/clinvar/41521 ^@ NM_000038.5(APC):c.2204C>T (p.Ala735Val) http://identifiers.org/clinvar/41522 ^@ NM_000038.5(APC):c.2297C>T (p.Ala766Val) http://identifiers.org/clinvar/41523 ^@ NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) http://identifiers.org/clinvar/41524 ^@ NM_000038.5(APC):c.317G>A (p.Arg106His) http://identifiers.org/clinvar/41525 ^@ NM_000038.5(APC):c.3249T>G (p.Asp1083Glu) http://identifiers.org/clinvar/41526 ^@ NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) http://identifiers.org/clinvar/41527 ^@ NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) http://identifiers.org/clinvar/41528 ^@ NM_000038.5(APC):c.3584T>C (p.Phe1195Ser) http://identifiers.org/clinvar/41529 ^@ NM_000038.5(APC):c.420G>C (p.Glu140Asp) http://identifiers.org/clinvar/41530 ^@ NM_000038.5(APC):c.4372C>T (p.Pro1458Ser) http://identifiers.org/clinvar/41531 ^@ NM_000038.5(APC):c.4375_4377delACT (p.Thr1459del) http://identifiers.org/clinvar/41532 ^@ NM_000038.5(APC):c.5392A>G (p.Asn1798Asp) http://identifiers.org/clinvar/41533 ^@ NM_000038.5(APC):c.53T>A (p.Met18Lys) http://identifiers.org/clinvar/41534 ^@ NM_000038.5(APC):c.6873A>T (p.Gln2291His) http://identifiers.org/clinvar/41535 ^@ NM_000038.5(APC):c.695G>A (p.Arg232Gln) http://identifiers.org/clinvar/41536 ^@ NM_000038.5(APC):c.7717A>G (p.Ile2573Val) http://identifiers.org/clinvar/41537 ^@ NM_000038.5(APC):c.7757G>T (p.Ser2586Ile) http://identifiers.org/clinvar/41538 ^@ NM_000038.5(APC):c.8459C>T (p.Thr2820Ile) http://identifiers.org/clinvar/41539 ^@ NM_000059.3(BRCA2):c.1022G>T (p.Cys341Phe) http://identifiers.org/clinvar/41540 ^@ NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) http://identifiers.org/clinvar/41541 ^@ NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) http://identifiers.org/clinvar/41542 ^@ NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) http://identifiers.org/clinvar/41543 ^@ NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) http://identifiers.org/clinvar/41544 ^@ NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) http://identifiers.org/clinvar/41545 ^@ NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) http://identifiers.org/clinvar/41546 ^@ NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) http://identifiers.org/clinvar/41547 ^@ NM_000059.3(BRCA2):c.3562A>G (p.Ile1188Val) http://identifiers.org/clinvar/41548 ^@ NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) http://identifiers.org/clinvar/41549 ^@ NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) http://identifiers.org/clinvar/41550 ^@ NM_000059.3(BRCA2):c.4593A>T (p.Lys1531Asn) http://identifiers.org/clinvar/41551 ^@ NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp) http://identifiers.org/clinvar/41552 ^@ NM_000059.3(BRCA2):c.50C>T (p.Thr17Ile) http://identifiers.org/clinvar/41553 ^@ NM_000059.3(BRCA2):c.5482_5486delAAATT (p.Lys1828Valfs) http://identifiers.org/clinvar/41554 ^@ NM_000059.3(BRCA2):c.5554G>T (p.Val1852Phe) http://identifiers.org/clinvar/41555 ^@ NM_000059.3(BRCA2):c.5732A>T (p.Asp1911Val) http://identifiers.org/clinvar/41556 ^@ NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) http://identifiers.org/clinvar/41558 ^@ NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) http://identifiers.org/clinvar/41559 ^@ NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) http://identifiers.org/clinvar/41560 ^@ NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) http://identifiers.org/clinvar/41561 ^@ NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) http://identifiers.org/clinvar/41562 ^@ NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) http://identifiers.org/clinvar/41563 ^@ NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) http://identifiers.org/clinvar/41564 ^@ NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) http://identifiers.org/clinvar/41565 ^@ NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) http://identifiers.org/clinvar/41567 ^@ NM_000059.3(BRCA2):c.865A>C (p.Asn289His) http://identifiers.org/clinvar/41568 ^@ NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) http://identifiers.org/clinvar/41569 ^@ NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) http://identifiers.org/clinvar/41570 ^@ NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) http://identifiers.org/clinvar/41571 ^@ NM_000059.3(BRCA2):c.8941G>A (p.Glu2981Lys) http://identifiers.org/clinvar/41572 ^@ NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) http://identifiers.org/clinvar/41573 ^@ NM_000077.4(CDKN2A):c.150+37G>C http://identifiers.org/clinvar/41574 ^@ NM_000077.4(CDKN2A):c.150+76del http://identifiers.org/clinvar/41575 ^@ NM_000077.4:c.155G>A http://identifiers.org/clinvar/41576 ^@ NM_000077.4:c.35G>A http://identifiers.org/clinvar/41577 ^@ NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) http://identifiers.org/clinvar/41578 ^@ NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) http://identifiers.org/clinvar/41579 ^@ NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) http://identifiers.org/clinvar/41580 ^@ NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) http://identifiers.org/clinvar/41582 ^@ NM_000143.3(FH):c.346A>T (p.Ile116Phe) http://identifiers.org/clinvar/41583 ^@ NM_000143.3(FH):c.883G>A (p.Ala295Thr) http://identifiers.org/clinvar/41584 ^@ NM_000143.3(FH):c.908T>C (p.Leu303Ser) http://identifiers.org/clinvar/41585 ^@ NM_000143.3(FH):c.1421C>G (p.Thr474Arg) http://identifiers.org/clinvar/41586 ^@ NM_000179.2(MSH6):c.1099C>A (p.His367Asn) http://identifiers.org/clinvar/41587 ^@ NM_000179.2(MSH6):c.1390A>T (p.Ile464Phe) http://identifiers.org/clinvar/41588 ^@ NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) http://identifiers.org/clinvar/41589 ^@ NM_000179.2(MSH6):c.1618C>A (p.Leu540Ile) http://identifiers.org/clinvar/41590 ^@ NM_000179.2(MSH6):c.1867C>G (p.Pro623Ala) http://identifiers.org/clinvar/41591 ^@ NM_000179.2(MSH6):c.2667G>T (p.Gln889His) http://identifiers.org/clinvar/41592 ^@ NM_000179.2(MSH6):c.3038A>C (p.Lys1013Thr) http://identifiers.org/clinvar/41593 ^@ NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) http://identifiers.org/clinvar/41594 ^@ NM_000179.2(MSH6):c.3833C>G (p.Pro1278Arg) http://identifiers.org/clinvar/41595 ^@ NM_000179.2(MSH6):c.4071_4074dupTAAG (p.Glu1359Terfs) http://identifiers.org/clinvar/41596 ^@ NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) http://identifiers.org/clinvar/41597 ^@ NM_000222.2(KIT):c.1199A>G (p.Asn400Ser) http://identifiers.org/clinvar/41598 ^@ NM_000222.2(KIT):c.1403C>T (p.Pro468Leu) http://identifiers.org/clinvar/41599 ^@ NM_000222.2(KIT):c.1621A>C (p.Met541Leu) http://identifiers.org/clinvar/41600 ^@ NM_000222.2(KIT):c.1694G>T (p.Gly565Val) http://identifiers.org/clinvar/41601 ^@ NM_000222.2(KIT):c.2263G>A (p.Ala755Thr) http://identifiers.org/clinvar/41602 ^@ NM_000222.2(KIT):c.484T>G (p.Phe162Val) http://identifiers.org/clinvar/41603 ^@ NM_000222.2(KIT):c.776A>G (p.Tyr259Cys) http://identifiers.org/clinvar/41604 ^@ NM_000222.2(KIT):c.821C>T (p.Thr274Met) http://identifiers.org/clinvar/41605 ^@ NM_000222.2(KIT):c.839C>T (p.Ala280Val) http://identifiers.org/clinvar/41606 ^@ NM_000222.2(KIT):c.910A>G (p.Thr304Ala) http://identifiers.org/clinvar/41607 ^@ NM_000245.2:c.-14-3312A>T http://identifiers.org/clinvar/41608 ^@ NM_000245.3(MET):c.1019A>G (p.Asp340Gly) http://identifiers.org/clinvar/41609 ^@ NM_000245.3(MET):c.1048A>C (p.Lys350Gln) http://identifiers.org/clinvar/41610 ^@ NM_001127500.2(MET):c.110T>C (p.Val37Ala) http://identifiers.org/clinvar/41611 ^@ NM_001127500.2(MET):c.1124A>G (p.Asn375Ser) http://identifiers.org/clinvar/41612 ^@ NM_001127500.2(MET):c.1180C>A (p.His394Asn) http://identifiers.org/clinvar/41613 ^@ NM_000245.3(MET):c.1232C>T (p.Ala411Val) http://identifiers.org/clinvar/41614 ^@ NM_000245.3(MET):c.1237C>A (p.Arg413Ser) http://identifiers.org/clinvar/41615 ^@ NM_000245.3(MET):c.1292T>C (p.Met431Thr) http://identifiers.org/clinvar/41616 ^@ NM_000245.3(MET):c.1304G>A (p.Ser435Asn) http://identifiers.org/clinvar/41617 ^@ NM_000245.3(MET):c.1306G>C (p.Glu436Gln) http://identifiers.org/clinvar/41618 ^@ NM_000245.3(MET):c.1345G>A (p.Asp449Asn) http://identifiers.org/clinvar/41619 ^@ NM_000245.3(MET):c.1392+5G>A http://identifiers.org/clinvar/41620 ^@ NM_000245.3(MET):c.1810C>G (p.Leu604Val) http://identifiers.org/clinvar/41621 ^@ NM_000245.3(MET):c.199A>G (p.Thr67Ala) http://identifiers.org/clinvar/41622 ^@ NM_000245.3(MET):c.2383A>G (p.Asn795Asp) http://identifiers.org/clinvar/41623 ^@ NM_001127500.2(MET):c.2962C>T (p.Arg988Cys) http://identifiers.org/clinvar/41624 ^@ NM_001127500.2(MET):c.3029C>T (p.Thr1010Ile) http://identifiers.org/clinvar/41625 ^@ NM_000245.3(MET):c.3356G>C (p.Gly1119Ala) http://identifiers.org/clinvar/41626 ^@ NM_000245.3(MET):c.4151C>G (p.Ala1384Gly) http://identifiers.org/clinvar/41627 ^@ NM_001127500.2(MET):c.504G>T (p.Glu168Asp) http://identifiers.org/clinvar/41628 ^@ NM_001127500.2(MET):c.607T>A (p.Ser203Thr) http://identifiers.org/clinvar/41629 ^@ NM_001127500.2(MET):c.948A>G (p.Ile316Met) http://identifiers.org/clinvar/41630 ^@ NM_001127500.2(MET):c.967A>G (p.Ser323Gly) http://identifiers.org/clinvar/41632 ^@ NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) http://identifiers.org/clinvar/41633 ^@ NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) http://identifiers.org/clinvar/41634 ^@ NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) http://identifiers.org/clinvar/41635 ^@ NM_000249.3(MLH1):c.1742C>T (p.Pro581Leu) http://identifiers.org/clinvar/41636 ^@ NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) http://identifiers.org/clinvar/41637 ^@ NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) http://identifiers.org/clinvar/41638 ^@ NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) http://identifiers.org/clinvar/41639 ^@ NM_000249.3(MLH1):c.2146G>A (p.Val716Met) http://identifiers.org/clinvar/41640 ^@ NM_000249.3(MLH1):c.637G>A (p.Val213Met) http://identifiers.org/clinvar/41641 ^@ NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) http://identifiers.org/clinvar/41642 ^@ NM_000251.2(MSH2):c.1271A>G (p.His424Arg) http://identifiers.org/clinvar/41643 ^@ NM_000251.2(MSH2):c.1717G>A (p.Ala573Thr) http://identifiers.org/clinvar/41644 ^@ NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) http://identifiers.org/clinvar/41645 ^@ NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) http://identifiers.org/clinvar/41646 ^@ NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) http://identifiers.org/clinvar/41647 ^@ NM_000251.2(MSH2):c.1837A>C (p.Asn613His) http://identifiers.org/clinvar/41648 ^@ NM_000251.2(MSH2):c.2425G>A (p.Glu809Lys) http://identifiers.org/clinvar/41649 ^@ NM_000251.2(MSH2):c.28C>A (p.Gln10Lys) http://identifiers.org/clinvar/41650 ^@ NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/41651 ^@ NM_000251.2(MSH2):c.815C>T (p.Ala272Val) http://identifiers.org/clinvar/41652 ^@ NM_000251.2(MSH2):c.944G>T (p.Gly315Val) http://identifiers.org/clinvar/41653 ^@ NM_000264.3(PTCH1):c.2090T>G (p.Leu697Arg) http://identifiers.org/clinvar/41654 ^@ NM_000264.3(PTCH1):c.2173C>T (p.Pro725Ser) http://identifiers.org/clinvar/41655 ^@ NM_000264.3(PTCH1):c.2485G>A (p.Val829Met) http://identifiers.org/clinvar/41656 ^@ NM_000264.3(PTCH1):c.2678G>A (p.Arg893His) http://identifiers.org/clinvar/41657 ^@ NM_000264.3(PTCH1):c.2834G>A (p.Arg945Gln) http://identifiers.org/clinvar/41658 ^@ NM_000264.3(PTCH1):c.306G>C (p.Leu102Phe) http://identifiers.org/clinvar/41659 ^@ NM_000264.3(PTCH1):c.3247G>A (p.Val1083Met) http://identifiers.org/clinvar/41660 ^@ NM_000264.3(PTCH1):c.3487G>A (p.Gly1163Ser) http://identifiers.org/clinvar/41661 ^@ NM_000264.3(PTCH1):c.3845C>T (p.Pro1282Leu) http://identifiers.org/clinvar/41662 ^@ NM_000264.3(PTCH1):c.3890G>A (p.Arg1297Gln) http://identifiers.org/clinvar/41663 ^@ NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) http://identifiers.org/clinvar/41664 ^@ NM_000264.3(PTCH1):c.4027G>A (p.Gly1343Arg) http://identifiers.org/clinvar/41665 ^@ NM_000264.3(PTCH1):c.4171C>T (p.Arg1391Trp) http://identifiers.org/clinvar/41666 ^@ NM_000264.3(PTCH1):c.4324C>T (p.Arg1442Trp) http://identifiers.org/clinvar/41667 ^@ NM_000264.3(PTCH1):c.4325G>A (p.Arg1442Gln) http://identifiers.org/clinvar/41668 ^@ NM_000267.3(NF1):c.1814T>C (p.Ile605Thr) http://identifiers.org/clinvar/41669 ^@ NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) http://identifiers.org/clinvar/41670 ^@ NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) http://identifiers.org/clinvar/41671 ^@ NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) http://identifiers.org/clinvar/41672 ^@ NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) http://identifiers.org/clinvar/41673 ^@ NM_000267.3(NF1):c.528T>A (p.Asp176Glu) http://identifiers.org/clinvar/41674 ^@ NM_000267.3(NF1):c.6719A>G (p.His2240Arg) http://identifiers.org/clinvar/41675 ^@ NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) http://identifiers.org/clinvar/41676 ^@ NM_000267.3(NF1):c.730+2T>G http://identifiers.org/clinvar/41677 ^@ NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) http://identifiers.org/clinvar/41678 ^@ NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) http://identifiers.org/clinvar/41679 ^@ NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) http://identifiers.org/clinvar/41680 ^@ NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) http://identifiers.org/clinvar/41681 ^@ NM_000268.3(NF2):c.983A>T (p.Glu328Val) http://identifiers.org/clinvar/41682 ^@ NM_000314.6(PTEN):c.235G>A (p.Ala79Thr) http://identifiers.org/clinvar/41683 ^@ NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) http://identifiers.org/clinvar/41684 ^@ NM_000321.2(RB1):c.411A>T (p.Glu137Asp) http://identifiers.org/clinvar/41685 ^@ NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) http://identifiers.org/clinvar/41686 ^@ NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) http://identifiers.org/clinvar/41687 ^@ NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) http://identifiers.org/clinvar/41688 ^@ NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) http://identifiers.org/clinvar/41689 ^@ NM_000368.4(TSC1):c.1263+88A>G http://identifiers.org/clinvar/41690 ^@ NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) http://identifiers.org/clinvar/41691 ^@ NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) http://identifiers.org/clinvar/41692 ^@ NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) http://identifiers.org/clinvar/41693 ^@ NM_000368.4(TSC1):c.2066G>A (p.Arg689His) http://identifiers.org/clinvar/41694 ^@ NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) http://identifiers.org/clinvar/41695 ^@ NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) http://identifiers.org/clinvar/41696 ^@ NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) http://identifiers.org/clinvar/41697 ^@ NM_000368.4(TSC1):c.3127_3129dupAGC (p.Ser1043_Glu1044insSer) http://identifiers.org/clinvar/41698 ^@ NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) http://identifiers.org/clinvar/41699 ^@ NM_000368.4(TSC1):c.851G>A (p.Arg284His) http://identifiers.org/clinvar/41700 ^@ NM_000368.4(TSC1):c.965T>C (p.Met322Thr) http://identifiers.org/clinvar/41701 ^@ NM_000535.6(PMS2):c.1437C>G (p.His479Gln) http://identifiers.org/clinvar/41702 ^@ NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) http://identifiers.org/clinvar/41703 ^@ NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) http://identifiers.org/clinvar/41704 ^@ NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) http://identifiers.org/clinvar/41705 ^@ NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) http://identifiers.org/clinvar/41706 ^@ NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) http://identifiers.org/clinvar/41707 ^@ NM_000535.6(PMS2):c.1789A>T (p.Thr597Ser) http://identifiers.org/clinvar/41708 ^@ NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) http://identifiers.org/clinvar/41709 ^@ NM_000535.6(PMS2):c.2149G>A (p.Val717Met) http://identifiers.org/clinvar/41710 ^@ NM_000535.6(PMS2):c.2264T>C (p.Ile755Thr) http://identifiers.org/clinvar/41711 ^@ NM_000535.6(PMS2):c.232_234delGAA (p.Glu78del) http://identifiers.org/clinvar/41712 ^@ NM_000535.6(PMS2):c.2399C>T (p.Pro800Leu) http://identifiers.org/clinvar/41713 ^@ NM_000535.6(PMS2):c.52A>G (p.Ile18Val) http://identifiers.org/clinvar/41714 ^@ NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) http://identifiers.org/clinvar/41715 ^@ NM_000535.6(PMS2):c.572A>G (p.Tyr191Cys) http://identifiers.org/clinvar/41716 ^@ NM_000535.6(PMS2):c.59G>A (p.Arg20Gln) http://identifiers.org/clinvar/41717 ^@ NM_000535.6(PMS2):c.695G>A (p.Gly232Glu) http://identifiers.org/clinvar/41718 ^@ NM_000535.6(PMS2):c.708G>T (p.Leu236Phe) http://identifiers.org/clinvar/41719 ^@ NM_000535.6(PMS2):c.733C>A (p.Leu245Met) http://identifiers.org/clinvar/41720 ^@ NM_000535.6(PMS2):c.858C>A (p.Asp286Glu) http://identifiers.org/clinvar/41721 ^@ NM_000535.6(PMS2):c.86G>C (p.Gly29Ala) http://identifiers.org/clinvar/41722 ^@ NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) http://identifiers.org/clinvar/41723 ^@ NM_000546.5(TP53):c.31G>C (p.Glu11Gln) http://identifiers.org/clinvar/41724 ^@ NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) http://identifiers.org/clinvar/41725 ^@ NM_000548.4(TSC2):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/41726 ^@ NM_000548.4(TSC2):c.1318G>A (p.Gly440Ser) http://identifiers.org/clinvar/41727 ^@ NM_000548.4(TSC2):c.1340C>T (p.Ala447Val) http://identifiers.org/clinvar/41728 ^@ NM_000548.4(TSC2):c.1458C>G (p.Asn486Lys) http://identifiers.org/clinvar/41729 ^@ NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) http://identifiers.org/clinvar/41730 ^@ NM_000548.4(TSC2):c.1819G>A (p.Ala607Thr) http://identifiers.org/clinvar/41731 ^@ NM_000548.4(TSC2):c.1939G>A (p.Asp647Asn) http://identifiers.org/clinvar/41732 ^@ NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) http://identifiers.org/clinvar/41733 ^@ NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) http://identifiers.org/clinvar/41734 ^@ NM_000548.4(TSC2):c.3770C>T (p.Ala1257Val) http://identifiers.org/clinvar/41735 ^@ NM_000548.4(TSC2):c.3827C>T (p.Ser1276Phe) http://identifiers.org/clinvar/41736 ^@ NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) http://identifiers.org/clinvar/41737 ^@ NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) http://identifiers.org/clinvar/41738 ^@ NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) http://identifiers.org/clinvar/41739 ^@ NM_000548.4(TSC2):c.4046C>T (p.Ala1349Val) http://identifiers.org/clinvar/41740 ^@ NM_000548.4(TSC2):c.4225C>T (p.Arg1409Trp) http://identifiers.org/clinvar/41741 ^@ NM_000548.4(TSC2):c.4285G>T (p.Ala1429Ser) http://identifiers.org/clinvar/41743 ^@ NM_000548.4(TSC2):c.4584G>T (p.Glu1528Asp) http://identifiers.org/clinvar/41744 ^@ NM_000548.4(TSC2):c.5026C>G (p.Leu1676Val) http://identifiers.org/clinvar/41745 ^@ NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) http://identifiers.org/clinvar/41746 ^@ NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) http://identifiers.org/clinvar/41747 ^@ NM_000548.4(TSC2):c.5368G>A (p.Val1790Met) http://identifiers.org/clinvar/41748 ^@ NM_000548.4(TSC2):c.5383C>T (p.Arg1795Cys) http://identifiers.org/clinvar/41749 ^@ NM_000548.4(TSC2):c.5418T>G (p.Phe1806Leu) http://identifiers.org/clinvar/41750 ^@ NM_000548.4(TSC2):c.922C>G (p.Arg308Gly) http://identifiers.org/clinvar/41751 ^@ NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) http://identifiers.org/clinvar/41752 ^@ NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) http://identifiers.org/clinvar/41753 ^@ NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) http://identifiers.org/clinvar/41754 ^@ NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) http://identifiers.org/clinvar/41755 ^@ NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) http://identifiers.org/clinvar/41756 ^@ NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) http://identifiers.org/clinvar/41757 ^@ NM_001128425.1(MUTYH):c.1601G>A (p.Arg534Gln) http://identifiers.org/clinvar/41758 ^@ NM_001128425.1(MUTYH):c.251A>G (p.Tyr84Cys) http://identifiers.org/clinvar/41759 ^@ NM_001128425.1(MUTYH):c.53C>T (p.Pro18Leu) http://identifiers.org/clinvar/41760 ^@ NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) http://identifiers.org/clinvar/41761 ^@ NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) http://identifiers.org/clinvar/41762 ^@ NM_001048171.1(MUTYH):c.70A>G (p.Ser24Gly) http://identifiers.org/clinvar/41763 ^@ NM_001128425.1(MUTYH):c.74G>A (p.Gly25Asp) http://identifiers.org/clinvar/41764 ^@ NM_001128425.1(MUTYH):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/41765 ^@ NM_001128425.1(MUTYH):c.925C>T (p.Arg309Cys) http://identifiers.org/clinvar/41766 ^@ NM_001128425.1(MUTYH):c.934-2A>G http://identifiers.org/clinvar/41767 ^@ NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) http://identifiers.org/clinvar/41768 ^@ NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) http://identifiers.org/clinvar/41769 ^@ NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) http://identifiers.org/clinvar/41770 ^@ NM_003000.2(SDHB):c.403G>A (p.Val135Met) http://identifiers.org/clinvar/41771 ^@ NM_003000.2(SDHB):c.638T>C (p.Met213Thr) http://identifiers.org/clinvar/41772 ^@ NM_003001.3(SDHC):c.*78G>A http://identifiers.org/clinvar/41773 ^@ NM_003001.3(SDHC):c.*84G>C http://identifiers.org/clinvar/41774 ^@ NM_003001.3(SDHC):c.341A>T (p.His114Leu) http://identifiers.org/clinvar/41775 ^@ NM_003001.3(SDHC):c.398G>A (p.Arg133Gln) http://identifiers.org/clinvar/41776 ^@ NM_003001.3(SDHC):c.43C>T (p.Arg15Ter) http://identifiers.org/clinvar/41777 ^@ NM_003002.3(SDHD):c.400T>G (p.Leu134Val) http://identifiers.org/clinvar/41778 ^@ NM_003073.4(SMARCB1):c.500+24C>G http://identifiers.org/clinvar/41779 ^@ NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) http://identifiers.org/clinvar/41780 ^@ NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) http://identifiers.org/clinvar/41781 ^@ NM_004329.2(BMPR1A):c.1596C>G (p.Ile532Met) http://identifiers.org/clinvar/41782 ^@ NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) http://identifiers.org/clinvar/41783 ^@ NM_004360.4(CDH1):c.1774G>A (p.Ala592Thr) http://identifiers.org/clinvar/41784 ^@ NM_004360.4(CDH1):c.1789C>T (p.Pro597Ser) http://identifiers.org/clinvar/41785 ^@ NM_004360.4(CDH1):c.2077G>A (p.Gly693Ser) http://identifiers.org/clinvar/41786 ^@ NM_004360.4(CDH1):c.671G>A (p.Arg224His) http://identifiers.org/clinvar/41787 ^@ NM_004360.4(CDH1):c.892G>A (p.Ala298Thr) http://identifiers.org/clinvar/41788 ^@ NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) http://identifiers.org/clinvar/41789 ^@ NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) http://identifiers.org/clinvar/41790 ^@ NM_006206.4(PDGFRA):c.1019G>A (p.Arg340Gln) http://identifiers.org/clinvar/41791 ^@ NM_006206.4(PDGFRA):c.1099G>A (p.Val367Met) http://identifiers.org/clinvar/41792 ^@ NM_006206.4(PDGFRA):c.1285G>A (p.Gly429Arg) http://identifiers.org/clinvar/41793 ^@ NM_006206.4(PDGFRA):c.1325T>C (p.Leu442Pro) http://identifiers.org/clinvar/41794 ^@ NM_006206.4(PDGFRA):c.1432T>C (p.Ser478Pro) http://identifiers.org/clinvar/41795 ^@ NM_006206.4(PDGFRA):c.1700C>T (p.Pro567Leu) http://identifiers.org/clinvar/41796 ^@ NM_006206.4(PDGFRA):c.2291G>A (p.Arg764His) http://identifiers.org/clinvar/41797 ^@ NM_006206.4(PDGFRA):c.236G>A (p.Gly79Asp) http://identifiers.org/clinvar/41798 ^@ NM_006206.4(PDGFRA):c.2897A>G (p.His966Arg) http://identifiers.org/clinvar/41799 ^@ NM_006206.4(PDGFRA):c.3004G>T (p.Asp1002Tyr) http://identifiers.org/clinvar/41800 ^@ NM_006206.4(PDGFRA):c.599C>G (p.Thr200Ser) http://identifiers.org/clinvar/41801 ^@ NM_006206.4(PDGFRA):c.661C>T (p.Leu221Phe) http://identifiers.org/clinvar/41802 ^@ NM_006206.4(PDGFRA):c.896T>C (p.Val299Ala) http://identifiers.org/clinvar/41803 ^@ NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) http://identifiers.org/clinvar/41804 ^@ NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) http://identifiers.org/clinvar/41805 ^@ NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) http://identifiers.org/clinvar/41806 ^@ NM_007294.3(BRCA1):c.1789G>A (p.Glu597Lys) http://identifiers.org/clinvar/41807 ^@ NM_007294.3(BRCA1):c.1849A>G (p.Thr617Ala) http://identifiers.org/clinvar/41808 ^@ NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) http://identifiers.org/clinvar/41809 ^@ NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) http://identifiers.org/clinvar/41810 ^@ NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) http://identifiers.org/clinvar/41811 ^@ NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) http://identifiers.org/clinvar/41812 ^@ NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) http://identifiers.org/clinvar/41813 ^@ NM_007294.3(BRCA1):c.2783G>A (p.Gly928Asp) http://identifiers.org/clinvar/41814 ^@ NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) http://identifiers.org/clinvar/41815 ^@ NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) http://identifiers.org/clinvar/41816 ^@ NM_007294.3(BRCA1):c.3296C>T (p.Pro1099Leu) http://identifiers.org/clinvar/41817 ^@ NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) http://identifiers.org/clinvar/41818 ^@ NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) http://identifiers.org/clinvar/41819 ^@ NM_007294.3(BRCA1):c.3783A>T (p.Leu1261Phe) http://identifiers.org/clinvar/41820 ^@ NM_007294.3(BRCA1):c.3962C>G (p.Ser1321Cys) http://identifiers.org/clinvar/41821 ^@ NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) http://identifiers.org/clinvar/41822 ^@ NM_007294.3(BRCA1):c.4096+30C>T http://identifiers.org/clinvar/41823 ^@ NM_007294.3(BRCA1):c.425C>A (p.Pro142His) http://identifiers.org/clinvar/41824 ^@ NM_007294.3(BRCA1):c.4414C>T (p.Leu1472Phe) http://identifiers.org/clinvar/41825 ^@ NM_007294.3(BRCA1):c.4520G>C (p.Arg1507Thr) http://identifiers.org/clinvar/41826 ^@ NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) http://identifiers.org/clinvar/41827 ^@ NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) http://identifiers.org/clinvar/41828 ^@ NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) http://identifiers.org/clinvar/41829 ^@ NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) http://identifiers.org/clinvar/41830 ^@ NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) http://identifiers.org/clinvar/41831 ^@ NM_007294.3(BRCA1):c.5005G>T (p.Ala1669Ser) http://identifiers.org/clinvar/41832 ^@ NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val) http://identifiers.org/clinvar/41833 ^@ NM_007294.3(BRCA1):c.5579A>C (p.His1860Pro) http://identifiers.org/clinvar/41835 ^@ NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) http://identifiers.org/clinvar/41836 ^@ NM_017841.2(SDHAF2):c.52A>G (p.Arg18Gly) http://identifiers.org/clinvar/41837 ^@ NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) http://identifiers.org/clinvar/41838 ^@ NM_020630.4:c.*750+d611T>C http://identifiers.org/clinvar/41839 ^@ NM_020630.4(RET):c.200G>A (p.Arg67His) http://identifiers.org/clinvar/41840 ^@ NM_020630.4(RET):c.2288A>T (p.Asn763Ile) http://identifiers.org/clinvar/41841 ^@ NM_020630.4(RET):c.2543T>A (p.Met848Lys) http://identifiers.org/clinvar/41842 ^@ NM_020975.4(RET):c.2611G>A (p.Val871Ile) http://identifiers.org/clinvar/41843 ^@ NM_020630.4(RET):c.2982A>C (p.Lys994Asn) http://identifiers.org/clinvar/41844 ^@ NM_020630.4(RET):c.509C>T (p.Thr170Ile) http://identifiers.org/clinvar/41845 ^@ NM_020975.4(RET):c.785T>C (p.Val262Ala) http://identifiers.org/clinvar/41846 ^@ NM_020975.4(RET):c.833C>A (p.Thr278Asn) http://identifiers.org/clinvar/41847 ^@ NM_024426.4(WT1):c.1048T>C (p.Cys350Arg) http://identifiers.org/clinvar/41848 ^@ NM_024529.4(CDC73):c.1304T>C (p.Met435Thr) http://identifiers.org/clinvar/41849 ^@ NM_058195.3(CDKN2A):c.184A>G (p.Arg62Gly) http://identifiers.org/clinvar/41850 ^@ NM_130799.2(MEN1):c.1379G>A (p.Arg460Gln) http://identifiers.org/clinvar/41851 ^@ NM_130799.2(MEN1):c.1522C>G (p.Gln508Glu) http://identifiers.org/clinvar/41852 ^@ NM_130799.2(MEN1):c.1621G>A (p.Ala541Thr) http://identifiers.org/clinvar/41853 ^@ NM_130799.2(MEN1):c.341G>T (p.Ser114Ile) http://identifiers.org/clinvar/41854 ^@ NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) http://identifiers.org/clinvar/41855 ^@ NM_130799.2(MEN1):c.774G>C (p.Gln258His) http://identifiers.org/clinvar/41856 ^@ NM_144997.5(FLCN):c.1523A>G (p.Lys508Arg) http://identifiers.org/clinvar/41857 ^@ NM_144997.5(FLCN):c.268G>T (p.Ala90Ser) http://identifiers.org/clinvar/41858 ^@ NM_144997.5(FLCN):c.396+59T>C http://identifiers.org/clinvar/41859 ^@ NM_144997.5(FLCN):c.586A>G (p.Ile196Val) http://identifiers.org/clinvar/41860 ^@ NM_144997.5(FLCN):c.871+16T>A http://identifiers.org/clinvar/41861 ^@ NM_144997.5(FLCN):c.871+36G>A http://identifiers.org/clinvar/41862 ^@ NM_144997.5(FLCN):c.871+47G>A http://identifiers.org/clinvar/41863 ^@ NM_144997.5(FLCN):c.959G>A (p.Arg320Gln) http://identifiers.org/clinvar/41864 ^@ NM_144997.5(FLCN):c.97G>C (p.Asp33His) http://identifiers.org/clinvar/41865 ^@ NM_198156.2(VHL):c.269A>G (p.Asn90Ser) http://identifiers.org/clinvar/41866 ^@ NM_000251.2(MSH2):c.2276G>A (p.Gly759Glu) http://identifiers.org/clinvar/41867 ^@ NG_007110.2:g.114289A>G http://identifiers.org/clinvar/41877 ^@ NM_004385.4(VCAN):c.4004-2A>T http://identifiers.org/clinvar/41878 ^@ NM_004385.4(VCAN):c.9265+2T>A http://identifiers.org/clinvar/41879 ^@ NM_004385.4(VCAN):c.4004-1G>C http://identifiers.org/clinvar/41880 ^@ NM_003366.3(UQCRC2):c.547C>T (p.Arg183Trp) http://identifiers.org/clinvar/41881 ^@ NM_032801.4(JAM3):c.656G>A (p.Cys219Tyr) http://identifiers.org/clinvar/41882 ^@ NM_032801.4(JAM3):c.346G>A (p.Glu116Lys) http://identifiers.org/clinvar/41883 ^@ NM_032801.4(JAM3):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/41888 ^@ NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) http://identifiers.org/clinvar/41889 ^@ NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) http://identifiers.org/clinvar/41890 ^@ NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) http://identifiers.org/clinvar/41892 ^@ NM_002615.6(SERPINF1):c.118_119delGT (p.Val40Glyfs) http://identifiers.org/clinvar/41893 ^@ NM_002615.6(SERPINF1):c.-9+2dupT http://identifiers.org/clinvar/41894 ^@ NM_001329905.1(SERPINF1):c.92delT (p.Val31Glufs) http://identifiers.org/clinvar/41895 ^@ NM_000541.4(SAG):c.577C>T (p.Arg193Ter) http://identifiers.org/clinvar/41897 ^@ NM_000541.4(SAG):c.874C>T (p.Arg292Ter) http://identifiers.org/clinvar/41898 ^@ NM_000541.4(SAG):c.916G>T (p.Glu306Ter) http://identifiers.org/clinvar/41899 ^@ NM_021939.3(FKBP10):c.948dupT (p.Ile317Tyrfs) http://identifiers.org/clinvar/41900 ^@ NM_000628.4(IL10RB):c.421G>T (p.Glu141Ter) http://identifiers.org/clinvar/41901 ^@ NM_001184.3(ATR):c.5635G>T (p.Asp1879Tyr) http://identifiers.org/clinvar/41910 ^@ NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) http://identifiers.org/clinvar/41911 ^@ NM_007075.3(WDR45):c.1007_1008delAT (p.Tyr336Cysfs) http://identifiers.org/clinvar/41912 ^@ NM_007075.3(WDR45):c.700C>T (p.Arg234Ter) http://identifiers.org/clinvar/41913 ^@ NM_007075.3(WDR45):c.519G>C (p.Val173=) http://identifiers.org/clinvar/41914 ^@ NM_007075.3(WDR45):c.437dupA (p.Leu148Alafs) http://identifiers.org/clinvar/41915 ^@ NM_007075.3(WDR45):c.637C>T (p.Gln213Ter) http://identifiers.org/clinvar/41916 ^@ NM_001305581.1(C10orf11):c.664C>T (p.Arg222Ter) http://identifiers.org/clinvar/41917 ^@ NM_001305581.1(C10orf11):c.150dupC (p.Ala51Argfs) http://identifiers.org/clinvar/41922 ^@ NM_006371.4(CRTAP):c.118_133del16insTACCC (p.Glu40Tyrfs*117) http://identifiers.org/clinvar/41923 ^@ NM_006371.4(CRTAP):c.561T>G (p.Tyr187Ter) http://identifiers.org/clinvar/41924 ^@ NM_015040.3(PIKFYVE):c.4167_4170delAGTA (p.Glu1389Aspfs*16) http://identifiers.org/clinvar/41925 ^@ NM_001885.2(CRYAB):c.470G>A (p.Arg157His) http://identifiers.org/clinvar/41926 ^@ NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) http://identifiers.org/clinvar/41927 ^@ NM_001885.2(CRYAB):c.418G>A (p.Asp140Asn) http://identifiers.org/clinvar/41928 ^@ NM_001885.2(CRYAB):c.58C>T (p.Pro20Ser) http://identifiers.org/clinvar/41929 ^@ NM_001885.2(CRYAB):c.166C>T (p.Arg56Trp) http://identifiers.org/clinvar/41930 ^@ NM_001885.2(CRYAB):c.325G>C (p.Asp109His) http://identifiers.org/clinvar/41934 ^@ NM_152490.4(B3GALNT2):c.740G>A (p.Gly247Glu) http://identifiers.org/clinvar/41935 ^@ NM_152490.4(B3GALNT2):c.875G>C (p.Arg292Pro) http://identifiers.org/clinvar/41936 ^@ NM_152490.4(B3GALNT2):c.308_309delTG (p.Val103Glyfs) http://identifiers.org/clinvar/41937 ^@ NM_152490.4(B3GALNT2):c.755T>G (p.Val252Gly) http://identifiers.org/clinvar/41938 ^@ NM_152490.4(B3GALNT2):c.802G>A (p.Val268Met) http://identifiers.org/clinvar/41939 ^@ NM_152490.4(B3GALNT2):c.1423C>T (p.Gln475Ter) http://identifiers.org/clinvar/41940 ^@ NM_021629.3(GNB4):c.158G>A (p.Gly53Asp) http://identifiers.org/clinvar/41941 ^@ NM_021629.3(GNB4):c.265A>G (p.Lys89Glu) http://identifiers.org/clinvar/41942 ^@ NM_138425.3(C12orf57):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/41943 ^@ NM_138425.3(C12orf57):c.152T>A (p.Leu51Gln) http://identifiers.org/clinvar/41987 ^@ NM_005210.3(CRYGB):c.72delC (p.Asn25Thrfs*20) http://identifiers.org/clinvar/41988 ^@ NM_005210.3(CRYGB):c.10-38delG http://identifiers.org/clinvar/42014 ^@ NM_002291.2(LAMB1):c.3145_3158delAAAGCCACTGGTCAinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Ser1387delinsProValLeuValSerSerTer) http://identifiers.org/clinvar/42015 ^@ NM_002291.2(LAMB1):c.2109+1G>T http://identifiers.org/clinvar/42016 ^@ NM_003119.3(SPG7):c.1529C>T (p.Ala510Val) http://identifiers.org/clinvar/42017 ^@ NM_032957.4(RTEL1):c.2288G>T (p.Gly763Val) http://identifiers.org/clinvar/42018 ^@ RTEL1:c.2402G>A (p.Arg801His) http://identifiers.org/clinvar/42019 ^@ NM_032957.4(RTEL1):c.1548G>T (p.Met516Ile) http://identifiers.org/clinvar/42020 ^@ NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) http://identifiers.org/clinvar/42021 ^@ NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp) http://identifiers.org/clinvar/42022 ^@ NM_032957.4(RTEL1):c.823G>A (p.Glu275Lys) http://identifiers.org/clinvar/42023 ^@ NM_198994.2(TGM6):c.1528G>C (p.Asp510His) http://identifiers.org/clinvar/42028 ^@ NM_001130004.1(ACTN1):c.313G>A (p.Val105Ile) http://identifiers.org/clinvar/42029 ^@ NM_001130004.1(ACTN1):c.94C>A (p.Gln32Lys) http://identifiers.org/clinvar/42030 ^@ NM_001130004.1(ACTN1):c.2255G>A (p.Arg752Gln) http://identifiers.org/clinvar/42031 ^@ NM_001130004.1(ACTN1):c.137G>A (p.Arg46Gln) http://identifiers.org/clinvar/42032 ^@ NM_001130004.1(ACTN1):c.2212C>T (p.Arg738Trp) http://identifiers.org/clinvar/42033 ^@ NM_001130004.1(ACTN1):c.673G>A (p.Glu225Lys) http://identifiers.org/clinvar/42034 ^@ NM_018906.2(PCDHA3):c.1750T>C (p.Ser584Pro) http://identifiers.org/clinvar/42035 ^@ NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) http://identifiers.org/clinvar/42041 ^@ NM_016938.4(EFEMP2):c.679C>T (p.Arg227Cys) http://identifiers.org/clinvar/42047 ^@ NM_000096.3(CP):c.1049C>A (p.Ala350Asp) http://identifiers.org/clinvar/42049 ^@ NM_001127718.2(LAMA3):c.151dupG (p.Val51Glyfs) http://identifiers.org/clinvar/42050 ^@ NM_000096.3(CP):c.229G>C (p.Asp77His) http://identifiers.org/clinvar/42051 ^@ NM_000096.3(CP):c.650T>C (p.Phe217Ser) http://identifiers.org/clinvar/42052 ^@ NM_000096.3(CP):c.1874G>A (p.Gly625Glu) http://identifiers.org/clinvar/42053 ^@ NM_000096.3(CP):c.2675G>A (p.Gly892Glu) http://identifiers.org/clinvar/42054 ^@ NM_000096.3(CP):c.2684G>C (p.Gly895Ala) http://identifiers.org/clinvar/42055 ^@ NM_000096.3(CP):c.2962G>A (p.Gly988Ser) http://identifiers.org/clinvar/42056 ^@ NM_000096.3(CP):c.548T>C (p.Ile183Thr) http://identifiers.org/clinvar/42057 ^@ NM_000096.3(CP):c.82A>T (p.Ile28Phe) http://identifiers.org/clinvar/42060 ^@ NM_020919.3(ALS2):c.1999-2A>T http://identifiers.org/clinvar/42062 ^@ NM_000096.3(CP):c.2953A>G (p.Met985Val) http://identifiers.org/clinvar/42063 ^@ NM_000057.3(BLM):c.1088-2A>G http://identifiers.org/clinvar/42064 ^@ NM_000057.3(BLM):c.1544dupA (p.Asn515Lysfs) http://identifiers.org/clinvar/42065 ^@ NM_000057.3(BLM):c.1628T>A (p.Leu543Ter) http://identifiers.org/clinvar/42066 ^@ NM_000057.3(BLM):c.2074+1G>T http://identifiers.org/clinvar/42067 ^@ NM_000057.3(BLM):c.2098C>T (p.Gln700Ter) http://identifiers.org/clinvar/42068 ^@ NM_000057.3(BLM):c.2193+2T>G http://identifiers.org/clinvar/42069 ^@ NM_000057.2(BLM):c.2308-953_2555+4719del http://identifiers.org/clinvar/42070 ^@ NM_000057.3(BLM):c.2406+2T>G http://identifiers.org/clinvar/42071 ^@ NM_000057.3(BLM):c.2506_2507delAG (p.Arg836Glyfs) http://identifiers.org/clinvar/42072 ^@ NM_000057.3(BLM):c.2643G>A (p.Trp881Ter) http://identifiers.org/clinvar/42073 ^@ NM_000057.3(BLM):c.275delA (p.Asn92Metfs) http://identifiers.org/clinvar/42074 ^@ NM_000057.3(BLM):c.2855G>T (p.Gly952Val) http://identifiers.org/clinvar/42075 ^@ NM_000057.3(BLM):c.2887C>T (p.His963Tyr) http://identifiers.org/clinvar/42076 ^@ NM_000057.3(BLM):c.2923delC (p.Gln975Lysfs) http://identifiers.org/clinvar/42077 ^@ NM_000057.3(BLM):c.311C>A (p.Ser104Ter) http://identifiers.org/clinvar/42078 ^@ NM_000057.3(BLM):c.3164G>C (p.Cys1055Ser) http://identifiers.org/clinvar/42079 ^@ NM_000057.3(BLM):c.3191A>T (p.Asp1064Val) http://identifiers.org/clinvar/42080 ^@ NM_000057.3(BLM):c.3197G>A (p.Cys1066Tyr) http://identifiers.org/clinvar/42081 ^@ NM_000057.3(BLM):c.3223dupA (p.Arg1075Lysfs) http://identifiers.org/clinvar/42082 ^@ NM_000057.3(BLM):c.3255_3256insT (p.Arg1086Terfs) http://identifiers.org/clinvar/42083 ^@ NM_000057.3(BLM):c.3278C>G (p.Ser1093Ter) http://identifiers.org/clinvar/42084 ^@ NM_000057.3(BLM):c.3475_3476delTT (p.Leu1159Ilefs) http://identifiers.org/clinvar/42085 ^@ NM_000057.3(BLM):c.3558+1G>A http://identifiers.org/clinvar/42086 ^@ NM_000057.3(BLM):c.3587delG (p.Ser1196Thrfs) http://identifiers.org/clinvar/42087 ^@ NM_000057.3(BLM):c.3681delA (p.Lys1227Asnfs) http://identifiers.org/clinvar/42088 ^@ NM_000057.3(BLM):c.3727dupA (p.Thr1243Asnfs) http://identifiers.org/clinvar/42089 ^@ NM_000057.3(BLM):c.3847C>T (p.Gln1283Ter) http://identifiers.org/clinvar/42091 ^@ NM_000057.3(BLM):c.582delT (p.Phe194Leufs) http://identifiers.org/clinvar/42092 ^@ NM_000057.3(BLM):c.772_773delCT (p.Leu258Glufs) http://identifiers.org/clinvar/42093 ^@ NM_000057.3(BLM):c.3751+(?_0)_*(177_?)del http://identifiers.org/clinvar/42094 ^@ NM_000143.3(FH):c.1127A>C (p.Gln376Pro) http://identifiers.org/clinvar/42095 ^@ NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) http://identifiers.org/clinvar/42096 ^@ NM_000257.3(MYH7):c.5186_5188delAGA (p.Lys1729del) http://identifiers.org/clinvar/42097 ^@ NM_000257.3(MYH7):c.5807A>G (p.Ter1936Trp) http://identifiers.org/clinvar/42098 ^@ NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) http://identifiers.org/clinvar/42099 ^@ NM_000540.2(RYR1):c.1205T>C (p.Met402Thr) http://identifiers.org/clinvar/42100 ^@ NM_000540.2(RYR1):c.13480G>T (p.Glu4494Ter) http://identifiers.org/clinvar/42101 ^@ NM_000540.2(RYR1):c.5333C>A (p.Ser1778Ter) http://identifiers.org/clinvar/42102 ^@ NM_000540.2(RYR1):c.6104A>T (p.His2035Leu) http://identifiers.org/clinvar/42103 ^@ NM_000540.2(RYR1):c.738T>G (p.Tyr246Ter) http://identifiers.org/clinvar/42104 ^@ NM_000540.2(RYR1):c.9000+1G>T http://identifiers.org/clinvar/42105 ^@ NM_000540.2(RYR1):c.9978C>A (p.Asn3326Lys) http://identifiers.org/clinvar/42106 ^@ NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp) http://identifiers.org/clinvar/42107 ^@ NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) http://identifiers.org/clinvar/42108 ^@ NM_001100.3(ACTA1):c.621G>C (p.Glu207Asp) http://identifiers.org/clinvar/42109 ^@ NM_001100.3(ACTA1):c.727G>A (p.Glu243Lys) http://identifiers.org/clinvar/42110 ^@ NM_006517.4(SLC16A2):c.1253T>C (p.Leu418Pro) http://identifiers.org/clinvar/42113 ^@ NM_152263.3(TPM3):c.11C>T (p.Ala4Val) http://identifiers.org/clinvar/42114 ^@ NM_152263.3(TPM3):c.272G>C (p.Arg91Pro) http://identifiers.org/clinvar/42115 ^@ NM_152263.3(TPM3):c.505A>G (p.Lys169Glu) http://identifiers.org/clinvar/42116 ^@ NM_152263.3(TPM3):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/42117 ^@ NM_152263.3(TPM3):c.733A>G (p.Arg245Gly) http://identifiers.org/clinvar/42118 ^@ NC_000020.10:g.62015806_62064474del48669 http://identifiers.org/clinvar/42119 ^@ NM_000096.3(CP):c.587C>G (p.Pro196Arg) http://identifiers.org/clinvar/42120 ^@ NM_000096.3(CP):c.493C>G (p.Gln165Glu) http://identifiers.org/clinvar/42121 ^@ NM_000096.3(CP):c.2131C>A (p.Gln711Lys) http://identifiers.org/clinvar/42122 ^@ NM_000096.3(CP):c.643C>T (p.Arg215Ter) http://identifiers.org/clinvar/42123 ^@ NM_000096.3(CP):c.2158C>T (p.Arg720Trp) http://identifiers.org/clinvar/42124 ^@ NM_000096.3(CP):c.2701C>T (p.Arg901Ter) http://identifiers.org/clinvar/42125 ^@ NM_000096.3(CP):c.1652C>T (p.Thr551Ile) http://identifiers.org/clinvar/42126 ^@ NM_000096.3(CP):c.848G>C (p.Trp283Ser) http://identifiers.org/clinvar/42128 ^@ NM_000096.3(CP):c.1123T>C (p.Tyr375His) http://identifiers.org/clinvar/42129 ^@ NM_002739.4(PRKCG):c.1078G>A (p.Gly360Ser) http://identifiers.org/clinvar/42130 ^@ NM_000096.3(CP):c.1209-2A>G http://identifiers.org/clinvar/42131 ^@ NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) http://identifiers.org/clinvar/42132 ^@ NM_002739.4(PRKCG):c.122G>C (p.Arg41Pro) http://identifiers.org/clinvar/42133 ^@ NM_000096.3(CP):c.1257_1258delTT (p.Tyr420Terfs) http://identifiers.org/clinvar/42135 ^@ NM_000096.3(CP):c.146+1G>A http://identifiers.org/clinvar/42137 ^@ NM_020919.3(ALS2):c.1619G>A (p.Gly540Glu) http://identifiers.org/clinvar/242672 ^@ NM_020919.3(ALS2):c.1821_1825dupCAGTG (p.Glu609Alafs) http://identifiers.org/clinvar/42139 ^@ NM_000096.3(CP):c.1865-1G>A http://identifiers.org/clinvar/42140 ^@ NM_002739.4(PRKCG):c.188G>T (p.Gly63Val) http://identifiers.org/clinvar/42141 ^@ NM_000096.3(CP):c.1918delG (p.Asp640Ilefs) http://identifiers.org/clinvar/42143 ^@ NM_000096.3(CP):c.2065delC (p.Pro689Leufs) http://identifiers.org/clinvar/42144 ^@ NM_000096.3(CP):c.2068delG (p.Asp690Thrfs) http://identifiers.org/clinvar/42145 ^@ NM_002739.4(PRKCG):c.2075T>G (p.Val692Gly) http://identifiers.org/clinvar/42147 ^@ NM_000096.3(CP):c.2185delC (p.Leu729Trpfs) http://identifiers.org/clinvar/42148 ^@ NM_002739.4(PRKCG):c.229T>A (p.Cys77Ser) http://identifiers.org/clinvar/42150 ^@ NM_000096.3(CP):c.2482delG (p.Ala828Profs) http://identifiers.org/clinvar/42151 ^@ NM_000096.3(CP):c.2511dupT (p.Gly838Trpfs) http://identifiers.org/clinvar/42152 ^@ NM_000096.3(CP):c.2554+1G>T http://identifiers.org/clinvar/42153 ^@ NM_000096.3(CP):c.2602delG (p.Gly868Glufs) http://identifiers.org/clinvar/42154 ^@ NM_000096.3(CP):c.2689_2690delCT (p.Leu897Aspfs) http://identifiers.org/clinvar/42155 ^@ NM_000096.3(CP):c.2879-1G>A http://identifiers.org/clinvar/42156 ^@ NM_000096.3(CP):c.2917dupA (p.Thr973Asnfs) http://identifiers.org/clinvar/42157 ^@ NM_002739.4(PRKCG):c.296_301delACAAAC (p.His101_Lys102del) http://identifiers.org/clinvar/42161 ^@ NM_002739.4(PRKCG):c.341G>A (p.Cys114Tyr) http://identifiers.org/clinvar/242671 ^@ NM_020919.3(ALS2):c.3565delG (p.Val1189Trpfs) http://identifiers.org/clinvar/42163 ^@ NM_002739.4(PRKCG):c.356C>T (p.Ser119Phe) http://identifiers.org/clinvar/42164 ^@ NM_002739.4(PRKCG):c.367G>A (p.Gly123Arg) http://identifiers.org/clinvar/42165 ^@ NM_002739.4(PRKCG):c.368G>A (p.Gly123Glu) http://identifiers.org/clinvar/42166 ^@ NM_002739.4(PRKCG):c.391T>C (p.Cys131Arg) http://identifiers.org/clinvar/42167 ^@ NM_002739.4(PRKCG):c.392G>A (p.Cys131Tyr) http://identifiers.org/clinvar/42168 ^@ NM_000096.3(CP):c.395-1G>A http://identifiers.org/clinvar/42169 ^@ NM_002739.4(PRKCG):c.413T>A (p.Val138Glu) http://identifiers.org/clinvar/42170 ^@ NM_002739.4(PRKCG):c.449_450delGCinsTT (p.Cys150Phe) http://identifiers.org/clinvar/42171 ^@ NM_002739.4(PRKCG):c.417C>A (p.His139Gln) http://identifiers.org/clinvar/42172 ^@ NM_000096.3(CP):c.607+1G>A http://identifiers.org/clinvar/42174 ^@ NM_002739.4(PRKCG):c.76A>G (p.Arg26Gly) http://identifiers.org/clinvar/42175 ^@ NM_000430.3(PAFAH1B1):c.*17C>T http://identifiers.org/clinvar/42176 ^@ NM_000430.3(PAFAH1B1):c.*3G>T http://identifiers.org/clinvar/42177 ^@ NM_000057.3(BLM):c.2407dupT (p.Trp803Leufs) http://identifiers.org/clinvar/42178 ^@ NM_000057.3(BLM):c.2488dupA (p.Thr830Asnfs) http://identifiers.org/clinvar/42192 ^@ NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) http://identifiers.org/clinvar/42193 ^@ NM_005984.4(SLC25A1):c.844C>G (p.Arg282Gly) http://identifiers.org/clinvar/42194 ^@ NM_005984.4(SLC25A1):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/42195 ^@ NM_005984.4(SLC25A1):c.845G>A (p.Arg282His) http://identifiers.org/clinvar/42196 ^@ NM_005984.4(SLC25A1):c.389G>A (p.Gly130Asp) http://identifiers.org/clinvar/42197 ^@ NM_005984.4(SLC25A1):c.821C>T (p.Ala274Val) http://identifiers.org/clinvar/42198 ^@ NM_005984.4(SLC25A1):c.517_526delCGGGAACAAG (p.Arg173Glyfs) http://identifiers.org/clinvar/42199 ^@ NM_181079.4(IL21R):c.307_312delTGCCAC (p.Cys103_His104del) http://identifiers.org/clinvar/42200 ^@ NM_181079.4(IL21R):c.668G>T (p.Arg223Leu) http://identifiers.org/clinvar/42201 ^@ m.1005T>C http://identifiers.org/clinvar/42202 ^@ m.1007G>A http://identifiers.org/clinvar/42203 ^@ m.1018G>A http://identifiers.org/clinvar/42204 ^@ m.1048C>T http://identifiers.org/clinvar/42205 ^@ m.1189T>C http://identifiers.org/clinvar/42206 ^@ m.1193T>C http://identifiers.org/clinvar/42207 ^@ m.1107T>C http://identifiers.org/clinvar/42208 ^@ m.1116A>G http://identifiers.org/clinvar/42209 ^@ m.1119T>C http://identifiers.org/clinvar/42210 ^@ m.1187T>C http://identifiers.org/clinvar/42211 ^@ m.1211G>A http://identifiers.org/clinvar/42212 ^@ m.1243T>C http://identifiers.org/clinvar/42213 ^@ m.1310C>T http://identifiers.org/clinvar/42214 ^@ m.1382A>C http://identifiers.org/clinvar/42215 ^@ m.1385C>T http://identifiers.org/clinvar/42216 ^@ m.1391T>C http://identifiers.org/clinvar/42217 ^@ m.1393G>A http://identifiers.org/clinvar/42218 ^@ m.1406T>C http://identifiers.org/clinvar/42219 ^@ m.1420T>C http://identifiers.org/clinvar/42220 ^@ m.1438A>G http://identifiers.org/clinvar/42221 ^@ m.1442G>A http://identifiers.org/clinvar/42222 ^@ m.1462G>A http://identifiers.org/clinvar/42223 ^@ m.1598G>A http://identifiers.org/clinvar/42224 ^@ m.7468C>T http://identifiers.org/clinvar/42225 ^@ m.7471C>T http://identifiers.org/clinvar/42226 ^@ m.7471_7472insC http://identifiers.org/clinvar/42227 ^@ m.7471delC http://identifiers.org/clinvar/42228 ^@ m.7476C>T http://identifiers.org/clinvar/42229 ^@ m.7493C>T http://identifiers.org/clinvar/42230 ^@ m.7498G>A http://identifiers.org/clinvar/42231 ^@ m.951G>A http://identifiers.org/clinvar/42232 ^@ m.956C>T http://identifiers.org/clinvar/42233 ^@ m.958_960dupCCC http://identifiers.org/clinvar/42234 ^@ m.960_961insC http://identifiers.org/clinvar/42235 ^@ m.960delC http://identifiers.org/clinvar/42236 ^@ m.961T>C http://identifiers.org/clinvar/42237 ^@ m.980T>C http://identifiers.org/clinvar/42238 ^@ NM_000038.5(APC):c.1458T>C (p.Tyr486=) http://identifiers.org/clinvar/42239 ^@ NM_000038.5(APC):c.1635G>A (p.Ala545=) http://identifiers.org/clinvar/42240 ^@ NM_000038.5(APC):c.1917dupA (p.Arg640Thrfs) http://identifiers.org/clinvar/42241 ^@ NM_000038.5(APC):c.3162delC (p.His1054Glnfs) http://identifiers.org/clinvar/42242 ^@ NM_000038.5(APC):c.4479G>A (p.Thr1493=) http://identifiers.org/clinvar/42243 ^@ NM_000038.5(APC):c.5034G>A (p.Gly1678=) http://identifiers.org/clinvar/42244 ^@ NM_000038.5(APC):c.5265G>A (p.Ala1755=) http://identifiers.org/clinvar/42245 ^@ NM_000038.5(APC):c.5268T>G (p.Ser1756=) http://identifiers.org/clinvar/42246 ^@ NM_000038.5(APC):c.5645G>C (p.Arg1882Thr) http://identifiers.org/clinvar/42247 ^@ NM_000038.5(APC):c.5880G>A (p.Pro1960=) http://identifiers.org/clinvar/42248 ^@ NM_000038.5(APC):c.694C>T (p.Arg232Ter) http://identifiers.org/clinvar/42249 ^@ NM_000038.5(APC):c.7201C>T (p.Leu2401=) http://identifiers.org/clinvar/42250 ^@ NM_000038.5(APC):c.7704A>G (p.Gly2568=) http://identifiers.org/clinvar/42251 ^@ NM_000038.5(APC):c.896_897delCT (p.Ser299Cysfs) http://identifiers.org/clinvar/42252 ^@ NM_001303465.1(TAZ):c.137C>T (p.Pro46Leu) http://identifiers.org/clinvar/42253 ^@ NM_000116.4(TAZ):c.13G>T (p.Val5Leu) http://identifiers.org/clinvar/42254 ^@ NM_000116.4(TAZ):c.208C>T (p.Gln70Ter) http://identifiers.org/clinvar/42255 ^@ NM_000116.4(TAZ):c.328T>C (p.Ser110Pro) http://identifiers.org/clinvar/42256 ^@ NM_000116.4(TAZ):c.307T>C (p.Cys103Arg) http://identifiers.org/clinvar/42257 ^@ NM_000116.4(TAZ):c.310T>C (p.Phe104Leu) http://identifiers.org/clinvar/42258 ^@ NM_000116.4(TAZ):c.371-13C>G http://identifiers.org/clinvar/42259 ^@ NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) http://identifiers.org/clinvar/42260 ^@ NM_000116.4(TAZ):c.48C>G (p.Thr16=) http://identifiers.org/clinvar/42261 ^@ NM_000116.4(TAZ):c.535C>G (p.Pro179Ala) http://identifiers.org/clinvar/42262 ^@ NM_000116.4(TAZ):c.583+10G>A http://identifiers.org/clinvar/42263 ^@ NM_000116.4(TAZ):c.584-7T>C http://identifiers.org/clinvar/42264 ^@ NM_000116.4(TAZ):c.590G>A (p.Gly197Glu) http://identifiers.org/clinvar/42265 ^@ NM_000116.4(TAZ):c.700-1G>A http://identifiers.org/clinvar/42266 ^@ NM_000116.4(TAZ):c.718G>C (p.Gly240Arg) http://identifiers.org/clinvar/42267 ^@ NM_000116.4(TAZ):c.752G>T (p.Arg251Leu) http://identifiers.org/clinvar/42268 ^@ NM_000116.4(TAZ):c.778-24_778-7delinsA http://identifiers.org/clinvar/42269 ^@ NM_000116.4(TAZ):c.823C>T (p.Gln275Ter) http://identifiers.org/clinvar/42270 ^@ NM_000116.4(TAZ):c.873G>A (p.Gly291=) http://identifiers.org/clinvar/42271 ^@ NM_000117.2(EMD):c.144C>T (p.Leu48=) http://identifiers.org/clinvar/42272 ^@ NM_000117.2(EMD):c.272A>G (p.Asn91Ser) http://identifiers.org/clinvar/42273 ^@ NM_000117.2(EMD):c.396C>T (p.His132=) http://identifiers.org/clinvar/42274 ^@ NM_000117.2(EMD):c.465C>T (p.Tyr155=) http://identifiers.org/clinvar/42275 ^@ NM_000117.2(EMD):c.494C>T (p.Thr165Met) http://identifiers.org/clinvar/42276 ^@ NM_000117.2(EMD):c.495G>A (p.Thr165=) http://identifiers.org/clinvar/42277 ^@ NM_000117.2(EMD):c.571A>G (p.Met191Val) http://identifiers.org/clinvar/42278 ^@ NM_000117.2(EMD):c.646G>A (p.Gly216Arg) http://identifiers.org/clinvar/42279 ^@ NM_000117.2(EMD):c.83-13C>G http://identifiers.org/clinvar/42280 ^@ NM_000138.4(FBN1):c.1051C>T (p.Gln351Ter) http://identifiers.org/clinvar/42281 ^@ NM_000138.4(FBN1):c.1192A>T (p.Arg398Ter) http://identifiers.org/clinvar/42282 ^@ NM_000138.4(FBN1):c.1095C>A (p.Cys365Ter) http://identifiers.org/clinvar/42283 ^@ NM_000138.4(FBN1):c.1148-2A>G http://identifiers.org/clinvar/42284 ^@ NM_000138.4(FBN1):c.1468+5G>A http://identifiers.org/clinvar/42285 ^@ NM_000138.4(FBN1):c.1546C>T (p.Arg516Ter) http://identifiers.org/clinvar/42286 ^@ NM_000138.4(FBN1):c.1561_1562delAG (p.Ser521Hisfs) http://identifiers.org/clinvar/42287 ^@ NM_000138.4(FBN1):c.156G>T (p.Ala52=) http://identifiers.org/clinvar/42288 ^@ NM_000138.4(FBN1):c.1601G>A (p.Cys534Tyr) http://identifiers.org/clinvar/42289 ^@ NM_000138.4(FBN1):c.164+5A>G http://identifiers.org/clinvar/42290 ^@ NM_000138.4(FBN1):c.165-7G>A http://identifiers.org/clinvar/42291 ^@ NM_000138.4(FBN1):c.1676C>T (p.Ala559Val) http://identifiers.org/clinvar/42292 ^@ NM_000138.4(FBN1):c.1837+1G>T http://identifiers.org/clinvar/42293 ^@ NM_000138.4(FBN1):c.1844A>G (p.Asn615Ser) http://identifiers.org/clinvar/42294 ^@ NM_000138.4(FBN1):c.1846G>A (p.Glu616Lys) http://identifiers.org/clinvar/42295 ^@ NM_000138.4(FBN1):c.184C>T (p.Arg62Cys) http://identifiers.org/clinvar/42296 ^@ NM_000138.4(FBN1):c.185G>A (p.Arg62His) http://identifiers.org/clinvar/42297 ^@ NM_000138.4(FBN1):c.1875T>C (p.Asn625=) http://identifiers.org/clinvar/42298 ^@ NM_000138.4(FBN1):c.2175T>C (p.Asn725=) http://identifiers.org/clinvar/42299 ^@ NM_000138.4(FBN1):c.2188G>A (p.Asp730Asn) http://identifiers.org/clinvar/42300 ^@ NM_000138.4(FBN1):c.2242T>C (p.Cys748Arg) http://identifiers.org/clinvar/42301 ^@ NM_000138.4(FBN1):c.2341T>C (p.Cys781Arg) http://identifiers.org/clinvar/42302 ^@ NM_000138.4(FBN1):c.239G>A (p.Cys80Tyr) http://identifiers.org/clinvar/42303 ^@ NM_000138.4(FBN1):c.2407A>T (p.Lys803Ter) http://identifiers.org/clinvar/42304 ^@ NM_000138.4(FBN1):c.2412_2413delAT (p.Cys805Terfs) http://identifiers.org/clinvar/42305 ^@ NM_000138.4(FBN1):c.2447G>C (p.Cys816Ser) http://identifiers.org/clinvar/42306 ^@ NM_000138.4(FBN1):c.2448C>G (p.Cys816Trp) http://identifiers.org/clinvar/42307 ^@ NM_000138.4(FBN1):c.247+1G>A http://identifiers.org/clinvar/42308 ^@ NM_000138.4(FBN1):c.247+2dupT http://identifiers.org/clinvar/42309 ^@ NM_000138.4(FBN1):c.2488T>G (p.Cys830Gly) http://identifiers.org/clinvar/42310 ^@ NM_000138.4(FBN1):c.2489G>C (p.Cys830Ser) http://identifiers.org/clinvar/42311 ^@ NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr) http://identifiers.org/clinvar/42312 ^@ NM_000138.4(FBN1):c.2496T>G (p.Cys832Trp) http://identifiers.org/clinvar/42313 ^@ NM_000138.4(FBN1):c.2519C>T (p.Pro840Leu) http://identifiers.org/clinvar/42314 ^@ NM_000138.4(FBN1):c.268_269delGGinsC (p.Gly90Argfs) http://identifiers.org/clinvar/42315 ^@ NM_000138.4(FBN1):c.2691dupT (p.Lys898Terfs) http://identifiers.org/clinvar/42316 ^@ NM_000138.4(FBN1):c.2757A>G (p.Gly919=) http://identifiers.org/clinvar/42317 ^@ NM_000138.4(FBN1):c.2833delG (p.Ala945Profs) http://identifiers.org/clinvar/42318 ^@ NM_000138.4(FBN1):c.2855-1G>A http://identifiers.org/clinvar/42319 ^@ NM_000138.4(FBN1):c.2855-9C>T http://identifiers.org/clinvar/42320 ^@ NM_000138.4(FBN1):c.2895G>A (p.Glu965=) http://identifiers.org/clinvar/42321 ^@ NM_000138.4(FBN1):c.2927G>A (p.Arg976His) http://identifiers.org/clinvar/42322 ^@ NM_000138.4(FBN1):c.299G>T (p.Cys100Phe) http://identifiers.org/clinvar/42323 ^@ NM_000138.4(FBN1):c.300C>T (p.Cys100=) http://identifiers.org/clinvar/42324 ^@ NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) http://identifiers.org/clinvar/42325 ^@ NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) http://identifiers.org/clinvar/42326 ^@ NM_000138.4(FBN1):c.32_42delTGGGATTTACC (p.Leu11Argfs) http://identifiers.org/clinvar/42327 ^@ NM_000138.4(FBN1):c.3164G>A (p.Cys1055Tyr) http://identifiers.org/clinvar/42328 ^@ NM_000138.4(FBN1):c.3209-3C>A http://identifiers.org/clinvar/42329 ^@ NM_000138.4(FBN1):c.3274delG (p.Asp1092Thrfs) http://identifiers.org/clinvar/42330 ^@ NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) http://identifiers.org/clinvar/42331 ^@ NM_000138.4(FBN1):c.3337+1G>A http://identifiers.org/clinvar/42332 ^@ NM_000138.4(FBN1):c.3392A>G (p.Asn1131Ser) http://identifiers.org/clinvar/42333 ^@ NM_000138.4(FBN1):c.3413G>T (p.Cys1138Phe) http://identifiers.org/clinvar/42334 ^@ NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) http://identifiers.org/clinvar/42335 ^@ NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) http://identifiers.org/clinvar/42336 ^@ NM_000138.4(FBN1):c.3463+1G>T http://identifiers.org/clinvar/42337 ^@ NM_000138.4(FBN1):c.3463+3A>G http://identifiers.org/clinvar/42338 ^@ NM_000138.4(FBN1):c.3514G>A (p.Val1172Met) http://identifiers.org/clinvar/42339 ^@ NM_000138.4(FBN1):c.3589G>A (p.Asp1197Asn) http://identifiers.org/clinvar/42340 ^@ NM_000138.4(FBN1):c.368G>A (p.Cys123Tyr) http://identifiers.org/clinvar/42341 ^@ NM_000138.4(FBN1):c.3772C>T (p.Pro1258Ser) http://identifiers.org/clinvar/42342 ^@ NM_000138.4(FBN1):c.378A>G (p.Gly126=) http://identifiers.org/clinvar/42343 ^@ NM_000138.4(FBN1):c.3848A>C (p.Glu1283Ala) http://identifiers.org/clinvar/42344 ^@ NM_000138.4(FBN1):c.3886T>C (p.Cys1296Arg) http://identifiers.org/clinvar/42345 ^@ NM_000138.4(FBN1):c.4001G>A (p.Gly1334Asp) http://identifiers.org/clinvar/42346 ^@ NM_000138.4(FBN1):c.4016G>C (p.Cys1339Ser) http://identifiers.org/clinvar/42347 ^@ NM_000138.4(FBN1):c.4048T>A (p.Cys1350Ser) http://identifiers.org/clinvar/42348 ^@ NM_000138.4(FBN1):c.4106A>G (p.Asn1369Ser) http://identifiers.org/clinvar/42349 ^@ NM_000138.4(FBN1):c.415G>C (p.Gly139Arg) http://identifiers.org/clinvar/42350 ^@ NM_000138.4(FBN1):c.4160A>G (p.Tyr1387Cys) http://identifiers.org/clinvar/42351 ^@ NM_000138.4(FBN1):c.4222T>C (p.Cys1408Arg) http://identifiers.org/clinvar/42352 ^@ NM_000138.4(FBN1):c.4233C>T (p.Asn1411=) http://identifiers.org/clinvar/42353 ^@ NM_000138.4(FBN1):c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del) http://identifiers.org/clinvar/42354 ^@ NM_000138.4(FBN1):c.4259G>A (p.Cys1420Tyr) http://identifiers.org/clinvar/42355 ^@ NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala) http://identifiers.org/clinvar/42356 ^@ NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) http://identifiers.org/clinvar/42357 ^@ NM_000138.4(FBN1):c.4367G>A (p.Cys1456Tyr) http://identifiers.org/clinvar/42358 ^@ NM_000138.4(FBN1):c.4337A>T (p.Asp1446Val) http://identifiers.org/clinvar/42359 ^@ NM_000138.4(FBN1):c.4364T>G (p.Ile1455Ser) http://identifiers.org/clinvar/42360 ^@ NM_000138.4(FBN1):c.4367G>C (p.Cys1456Ser) http://identifiers.org/clinvar/42361 ^@ NM_000138.4(FBN1):c.4406G>C (p.Arg1469Pro) http://identifiers.org/clinvar/42362 ^@ NM_000138.4(FBN1):c.4459+3A>T http://identifiers.org/clinvar/42363 ^@ NM_000138.4(FBN1):c.4505G>A (p.Cys1502Tyr) http://identifiers.org/clinvar/42364 ^@ NM_000138.4(FBN1):c.4531T>C (p.Cys1511Arg) http://identifiers.org/clinvar/42365 ^@ NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) http://identifiers.org/clinvar/42366 ^@ NM_000138.4(FBN1):c.4615C>T (p.Arg1539Ter) http://identifiers.org/clinvar/42367 ^@ NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) http://identifiers.org/clinvar/42368 ^@ NM_000138.4(FBN1):c.4683C>T (p.Ser1561=) http://identifiers.org/clinvar/42369 ^@ NM_000138.4(FBN1):c.4707C>G (p.Ala1569=) http://identifiers.org/clinvar/42370 ^@ NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) http://identifiers.org/clinvar/42371 ^@ NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp) http://identifiers.org/clinvar/42372 ^@ NM_000138.4(FBN1):c.4937G>A (p.Cys1646Tyr) http://identifiers.org/clinvar/42373 ^@ NM_000138.4(FBN1):c.493C>T (p.Arg165Ter) http://identifiers.org/clinvar/42374 ^@ NM_000138.4(FBN1):c.4942+4A>G http://identifiers.org/clinvar/42375 ^@ NM_000138.4(FBN1):c.4942G>A (p.Asp1648Asn) http://identifiers.org/clinvar/42376 ^@ NM_000138.4(FBN1):c.4955G>A (p.Cys1652Tyr) http://identifiers.org/clinvar/42377 ^@ NM_000138.4(FBN1):c.497G>C (p.Cys166Ser) http://identifiers.org/clinvar/42378 ^@ NM_000138.4(FBN1):c.5066-1G>C http://identifiers.org/clinvar/42379 ^@ NM_000138.4(FBN1):c.5251C>T (p.Gln1751Ter) http://identifiers.org/clinvar/42380 ^@ NM_000138.4(FBN1):c.529T>C (p.Cys177Arg) http://identifiers.org/clinvar/42381 ^@ NM_000138.4(FBN1):c.5343G>A (p.Val1781=) http://identifiers.org/clinvar/42382 ^@ NM_000138.4(FBN1):c.5368C>T (p.Arg1790Ter) http://identifiers.org/clinvar/42383 ^@ NM_000138.4(FBN1):c.5437C>T (p.Gln1813Ter) http://identifiers.org/clinvar/42384 ^@ NM_000138.4(FBN1):c.5442C>T (p.Asn1814=) http://identifiers.org/clinvar/42385 ^@ NM_000138.4(FBN1):c.5504G>A (p.Cys1835Tyr) http://identifiers.org/clinvar/42386 ^@ NM_000138.4(FBN1):c.5512G>T (p.Gly1838Cys) http://identifiers.org/clinvar/42387 ^@ NM_000138.4(FBN1):c.5719A>G (p.Asn1907Asp) http://identifiers.org/clinvar/42388 ^@ NM_000138.4(FBN1):c.5588G>A (p.Gly1863Glu) http://identifiers.org/clinvar/42389 ^@ NM_000138.4(FBN1):c.561delT (p.Phe187Leufs) http://identifiers.org/clinvar/42390 ^@ NM_000138.4(FBN1):c.5721C>G (p.Asn1907Lys) http://identifiers.org/clinvar/42391 ^@ NM_000138.4(FBN1):c.5747G>A (p.Cys1916Tyr) http://identifiers.org/clinvar/42392 ^@ NM_000138.4(FBN1):c.5788+10C>A http://identifiers.org/clinvar/42393 ^@ NM_000138.4(FBN1):c.5863C>T (p.Gln1955Ter) http://identifiers.org/clinvar/42394 ^@ NM_000138.4(FBN1):c.5788+5G>A http://identifiers.org/clinvar/42395 ^@ NM_000138.4(FBN1):c.5840G>A (p.Cys1947Tyr) http://identifiers.org/clinvar/42396 ^@ NM_000138.4(FBN1):c.5869C>T (p.Gln1957Ter) http://identifiers.org/clinvar/42397 ^@ NM_000138.4(FBN1):c.6119G>A (p.Cys2040Tyr) http://identifiers.org/clinvar/42398 ^@ NM_000138.4(FBN1):c.6289G>T (p.Glu2097Ter) http://identifiers.org/clinvar/42399 ^@ NM_000138.4(FBN1):c.6372A>G (p.Ser2124=) http://identifiers.org/clinvar/42400 ^@ NM_000138.4(FBN1):c.6379+1G>A http://identifiers.org/clinvar/42401 ^@ NM_000138.4(FBN1):c.643C>T (p.Arg215Ter) http://identifiers.org/clinvar/42402 ^@ NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) http://identifiers.org/clinvar/42403 ^@ NM_000138.4(FBN1):c.6515_6516delTTinsG (p.Val2172Glyfs) http://identifiers.org/clinvar/42404 ^@ NM_000138.4(FBN1):c.6617-9_6617-8delinsAG http://identifiers.org/clinvar/42405 ^@ NM_000138.4(FBN1):c.6630T>G (p.Cys2210Trp) http://identifiers.org/clinvar/42406 ^@ NM_000138.4(FBN1):c.6656T>C (p.Phe2219Ser) http://identifiers.org/clinvar/42407 ^@ NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) http://identifiers.org/clinvar/42408 ^@ NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) http://identifiers.org/clinvar/42409 ^@ NM_000138.4(FBN1):c.6746A>G (p.Asp2249Gly) http://identifiers.org/clinvar/42410 ^@ NM_000138.4(FBN1):c.6834C>T (p.Pro2278=) http://identifiers.org/clinvar/42411 ^@ NM_000138.4(FBN1):c.6841C>T (p.Gln2281Ter) http://identifiers.org/clinvar/42412 ^@ NM_000138.4(FBN1):c.6855T>C (p.Asp2285=) http://identifiers.org/clinvar/42413 ^@ NM_000138.4(FBN1):c.6888G>A (p.Gln2296=) http://identifiers.org/clinvar/42414 ^@ NM_000138.4(FBN1):c.6920G>A (p.Cys2307Tyr) http://identifiers.org/clinvar/42415 ^@ NM_000138.4(FBN1):c.697C>T (p.Arg233Cys) http://identifiers.org/clinvar/42416 ^@ NM_000138.4(FBN1):c.6992G>A (p.Cys2331Tyr) http://identifiers.org/clinvar/42417 ^@ NM_000138.4(FBN1):c.7071C>T (p.Pro2357=) http://identifiers.org/clinvar/42418 ^@ NM_000138.4(FBN1):c.7082C>T (p.Ser2361Leu) http://identifiers.org/clinvar/42419 ^@ NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr) http://identifiers.org/clinvar/42420 ^@ NM_000138.4(FBN1):c.7167_7168delCT (p.Cys2390Serfs) http://identifiers.org/clinvar/42421 ^@ NM_000138.4(FBN1):c.7168T>C (p.Cys2390Arg) http://identifiers.org/clinvar/42422 ^@ NM_000138.4(FBN1):c.7180C>T (p.Arg2394Ter) http://identifiers.org/clinvar/42423 ^@ NM_000138.4(FBN1):c.7184G>T (p.Gly2395Val) http://identifiers.org/clinvar/42424 ^@ NM_000138.4(FBN1):c.7203A>G (p.Ala2401=) http://identifiers.org/clinvar/42425 ^@ NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) http://identifiers.org/clinvar/42426 ^@ NM_000138.4(FBN1):c.7453+1G>T http://identifiers.org/clinvar/42427 ^@ NM_000138.4(FBN1):c.7497_7498delAT (p.Val2501Terfs) http://identifiers.org/clinvar/42428 ^@ NM_000138.4(FBN1):c.7580A>C (p.Glu2527Ala) http://identifiers.org/clinvar/42429 ^@ NM_000138.4(FBN1):c.7606G>A (p.Gly2536Arg) http://identifiers.org/clinvar/42430 ^@ NM_000138.4(FBN1):c.7640G>T (p.Ser2547Ile) http://identifiers.org/clinvar/42431 ^@ NM_000138.4(FBN1):c.7699+5delG http://identifiers.org/clinvar/42432 ^@ NM_000138.4(FBN1):c.7784G>T (p.Gly2595Val) http://identifiers.org/clinvar/42433 ^@ NM_000138.4(FBN1):c.7819+8A>C http://identifiers.org/clinvar/42434 ^@ NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg) http://identifiers.org/clinvar/42435 ^@ NM_000138.4(FBN1):c.7881G>A (p.Gly2627=) http://identifiers.org/clinvar/42436 ^@ NM_000138.4(FBN1):c.7892G>A (p.Cys2631Tyr) http://identifiers.org/clinvar/42437 ^@ NM_000138.4(FBN1):c.7950T>C (p.Asn2650=) http://identifiers.org/clinvar/42438 ^@ NM_000138.4(FBN1):c.7955G>A (p.Cys2652Tyr) http://identifiers.org/clinvar/42439 ^@ NM_000138.4(FBN1):c.8071G>A (p.Gly2691Ser) http://identifiers.org/clinvar/42440 ^@ NM_000138.4(FBN1):c.8218A>G (p.Asn2740Asp) http://identifiers.org/clinvar/42441 ^@ NM_000138.4(FBN1):c.8267G>A (p.Trp2756Ter) http://identifiers.org/clinvar/42442 ^@ NM_000138.4(FBN1):c.8362_8386del25insGA (p.Thr2788Glufs) http://identifiers.org/clinvar/42443 ^@ NM_000138.4(FBN1):c.8378A>G (p.Tyr2793Cys) http://identifiers.org/clinvar/42444 ^@ NM_000138.4(FBN1):c.8385C>T (p.Ile2795=) http://identifiers.org/clinvar/42445 ^@ NM_000138.4(FBN1):c.8483C>G (p.Ser2828Ter) http://identifiers.org/clinvar/42446 ^@ NM_000138.4(FBN1):c.8600A>C (p.Gln2867Pro) http://identifiers.org/clinvar/42447 ^@ NM_000138.4(FBN1):c.8605_8606delTT (p.Leu2869Alafs) http://identifiers.org/clinvar/42448 ^@ NM_000138.4(FBN1):c.958dupT (p.Tyr320Leufs) http://identifiers.org/clinvar/42449 ^@ NM_000169.2(GLA):c.-12G>A http://identifiers.org/clinvar/42450 ^@ NM_000169.2(GLA):c.1000-14T>C http://identifiers.org/clinvar/42451 ^@ NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) http://identifiers.org/clinvar/42452 ^@ NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) http://identifiers.org/clinvar/42453 ^@ NM_000169.2(GLA):c.129C>T (p.Gly43=) http://identifiers.org/clinvar/42454 ^@ NM_000169.2(GLA):c.352C>T (p.Arg118Cys) http://identifiers.org/clinvar/42455 ^@ NM_000169.2(GLA):c.48T>G (p.Leu16=) http://identifiers.org/clinvar/42456 ^@ NM_000169.2(GLA):c.613C>A (p.Pro205Thr) http://identifiers.org/clinvar/42457 ^@ NM_000169.2(GLA):c.639+6A>C http://identifiers.org/clinvar/42458 ^@ NM_000169.2(GLA):c.640-854_640-853delAG http://identifiers.org/clinvar/42459 ^@ NM_000169.2(GLA):c.70T>A (p.Trp24Arg) http://identifiers.org/clinvar/42460 ^@ NM_000169.2(GLA):c.714T>C (p.Ser238=) http://identifiers.org/clinvar/42461 ^@ NM_000169.2(GLA):c.724A>T (p.Ile242Phe) http://identifiers.org/clinvar/42462 ^@ NM_000169.2(GLA):c.729G>C (p.Leu243Phe) http://identifiers.org/clinvar/42463 ^@ NM_000169.2(GLA):c.801+14C>T http://identifiers.org/clinvar/42464 ^@ NM_000169.2(GLA):c.8T>C (p.Leu3Pro) http://identifiers.org/clinvar/42465 ^@ NM_000169.2(GLA):c.945C>T (p.Asp315=) http://identifiers.org/clinvar/42466 ^@ NM_000169.2(GLA):c.978G>A (p.Lys326=) http://identifiers.org/clinvar/42467 ^@ NM_000179.2(MSH6):c.1164C>T (p.His388=) http://identifiers.org/clinvar/42468 ^@ NM_000179.2(MSH6):c.2272C>T (p.Leu758=) http://identifiers.org/clinvar/42469 ^@ NM_000179.2(MSH6):c.3173-1G>C http://identifiers.org/clinvar/42470 ^@ NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) http://identifiers.org/clinvar/42471 ^@ NM_000179.2(MSH6):c.3438+14A>T http://identifiers.org/clinvar/42472 ^@ NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) http://identifiers.org/clinvar/42473 ^@ NM_000214.2(JAG1):c.2214A>C (p.Thr738=) http://identifiers.org/clinvar/42474 ^@ NM_000214.2(JAG1):c.2382C>T (p.Ser794=) http://identifiers.org/clinvar/42475 ^@ NM_000214.2(JAG1):c.2612C>G (p.Pro871Arg) http://identifiers.org/clinvar/42476 ^@ NM_000214.2(JAG1):c.267G>A (p.Gly89=) http://identifiers.org/clinvar/42477 ^@ NM_000214.2(JAG1):c.270G>T (p.Gly90=) http://identifiers.org/clinvar/42478 ^@ NM_000214.2(JAG1):c.3528C>T (p.Tyr1176=) http://identifiers.org/clinvar/42479 ^@ NM_000214.2(JAG1):c.3583A>G (p.Asn1195Asp) http://identifiers.org/clinvar/42480 ^@ NM_000214.2(JAG1):c.436G>A (p.Val146Ile) http://identifiers.org/clinvar/42481 ^@ NM_000214.2(JAG1):c.588C>T (p.Cys196=) http://identifiers.org/clinvar/42482 ^@ NM_000214.2(JAG1):c.744A>G (p.Pro248=) http://identifiers.org/clinvar/42483 ^@ NM_000214.2(JAG1):c.924C>T (p.Asn308=) http://identifiers.org/clinvar/42484 ^@ NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) http://identifiers.org/clinvar/42485 ^@ NM_000218.2(KCNQ1):c.1394-14C>T http://identifiers.org/clinvar/42486 ^@ NM_000218.2(KCNQ1):c.1455C>T (p.Phe485=) http://identifiers.org/clinvar/42487 ^@ NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) http://identifiers.org/clinvar/42488 ^@ NM_000218.2(KCNQ1):c.1638G>A (p.Ser546=) http://identifiers.org/clinvar/42489 ^@ NM_000218.2(KCNQ1):c.1986C>T (p.Tyr662=) http://identifiers.org/clinvar/42490 ^@ NM_000218.2(KCNQ1):c.478-10G>A http://identifiers.org/clinvar/42491 ^@ NM_000218.2(KCNQ1):c.478-8C>T http://identifiers.org/clinvar/42492 ^@ NM_000218.2(KCNQ1):c.619G>A (p.Val207Met) http://identifiers.org/clinvar/42493 ^@ NM_000218.2(KCNQ1):c.720C>T (p.His240=) http://identifiers.org/clinvar/42494 ^@ NM_000219.5(KCNE1):c.-3delA http://identifiers.org/clinvar/42496 ^@ NM_000249.3(MLH1):c.977T>C (p.Val326Ala) http://identifiers.org/clinvar/42497 ^@ NM_000251.2(MSH2):c.51C>T (p.Val17=) http://identifiers.org/clinvar/42498 ^@ NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) http://identifiers.org/clinvar/42499 ^@ NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) http://identifiers.org/clinvar/42500 ^@ NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile) http://identifiers.org/clinvar/42501 ^@ NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) http://identifiers.org/clinvar/42502 ^@ NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) http://identifiers.org/clinvar/42503 ^@ NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) http://identifiers.org/clinvar/42504 ^@ NM_000256.3(MYBPC3):c.1091-18_1091-8del http://identifiers.org/clinvar/42505 ^@ NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg) http://identifiers.org/clinvar/42506 ^@ NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) http://identifiers.org/clinvar/42507 ^@ NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter) http://identifiers.org/clinvar/42508 ^@ NM_000256.3(MYBPC3):c.1168delC (p.His390Metfs) http://identifiers.org/clinvar/42509 ^@ NM_000256.3(MYBPC3):c.1188G>T (p.Trp396Cys) http://identifiers.org/clinvar/42510 ^@ NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys) http://identifiers.org/clinvar/42511 ^@ NM_000256.3(MYBPC3):c.1224-2A>G http://identifiers.org/clinvar/42512 ^@ NM_000256.3(MYBPC3):c.1226+6T>C http://identifiers.org/clinvar/42513 ^@ NM_000256.3(MYBPC3):c.1227-13G>A http://identifiers.org/clinvar/42514 ^@ NM_000256.3(MYBPC3):c.1235_1236delTT (p.Phe412Terfs) http://identifiers.org/clinvar/42515 ^@ NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) http://identifiers.org/clinvar/42516 ^@ NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) http://identifiers.org/clinvar/42517 ^@ NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter) http://identifiers.org/clinvar/42518 ^@ NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) http://identifiers.org/clinvar/42519 ^@ NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=) http://identifiers.org/clinvar/42520 ^@ NM_000256.3(MYBPC3):c.1294G>A (p.Ala432Thr) http://identifiers.org/clinvar/42521 ^@ NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) http://identifiers.org/clinvar/42522 ^@ NM_000256.3(MYBPC3):c.1310delT (p.Val437Glyfs) http://identifiers.org/clinvar/42523 ^@ NM_000256.3(MYBPC3):c.1320C>T (p.Gly440=) http://identifiers.org/clinvar/42524 ^@ NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) http://identifiers.org/clinvar/42525 ^@ NM_000256.3(MYBPC3):c.1351+2T>C http://identifiers.org/clinvar/42526 ^@ NM_000256.3(MYBPC3):c.1358C>T (p.Pro453Leu) http://identifiers.org/clinvar/42527 ^@ NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) http://identifiers.org/clinvar/42528 ^@ NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) http://identifiers.org/clinvar/42529 ^@ NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) http://identifiers.org/clinvar/42530 ^@ NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp) http://identifiers.org/clinvar/42531 ^@ NM_000256.3(MYBPC3):c.1456T>G (p.Trp486Gly) http://identifiers.org/clinvar/42532 ^@ NM_000256.3(MYBPC3):c.1458-1G>A http://identifiers.org/clinvar/42533 ^@ NM_000256.3(MYBPC3):c.1458-6G>A http://identifiers.org/clinvar/42534 ^@ NM_000256.3(MYBPC3):c.1458-7C>T http://identifiers.org/clinvar/42535 ^@ NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) http://identifiers.org/clinvar/42536 ^@ NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) http://identifiers.org/clinvar/42537 ^@ NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) http://identifiers.org/clinvar/42538 ^@ NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) http://identifiers.org/clinvar/42539 ^@ NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) http://identifiers.org/clinvar/42540 ^@ NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) http://identifiers.org/clinvar/42541 ^@ NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) http://identifiers.org/clinvar/42542 ^@ NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=) http://identifiers.org/clinvar/42543 ^@ NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) http://identifiers.org/clinvar/42544 ^@ NM_000256.3(MYBPC3):c.1535T>A (p.Leu512Gln) http://identifiers.org/clinvar/42545 ^@ NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) http://identifiers.org/clinvar/42546 ^@ NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) http://identifiers.org/clinvar/42547 ^@ NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) http://identifiers.org/clinvar/42548 ^@ NM_000256.3(MYBPC3):c.1586C>G (p.Thr529Ser) http://identifiers.org/clinvar/42549 ^@ NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) http://identifiers.org/clinvar/42550 ^@ NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) http://identifiers.org/clinvar/42551 ^@ NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) http://identifiers.org/clinvar/42552 ^@ NM_000256.3(MYBPC3):c.1624+13G>A http://identifiers.org/clinvar/42553 ^@ NM_000256.3(MYBPC3):c.1624+14G>C http://identifiers.org/clinvar/42554 ^@ NM_000256.3(MYBPC3):c.1624+14_1624+15insA http://identifiers.org/clinvar/42555 ^@ NM_000256.3(MYBPC3):c.1641G>A (p.Val547=) http://identifiers.org/clinvar/42556 ^@ NM_000256.3(MYBPC3):c.1624+4A>T http://identifiers.org/clinvar/42557 ^@ NM_000256.3(MYBPC3):c.1624+9G>A http://identifiers.org/clinvar/42558 ^@ NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser) http://identifiers.org/clinvar/42559 ^@ NM_000256.3(MYBPC3):c.1684G>A (p.Ala562Thr) http://identifiers.org/clinvar/42560 ^@ NM_000256.3(MYBPC3):c.1693A>T (p.Lys565Ter) http://identifiers.org/clinvar/42561 ^@ NM_000256.3(MYBPC3):c.1719T>G (p.Val573=) http://identifiers.org/clinvar/42562 ^@ NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) http://identifiers.org/clinvar/42563 ^@ NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) http://identifiers.org/clinvar/42564 ^@ NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe) http://identifiers.org/clinvar/42565 ^@ NM_000256.3(MYBPC3):c.177_187delAGAGGGCACAC (p.Glu60Alafs) http://identifiers.org/clinvar/42566 ^@ NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) http://identifiers.org/clinvar/42567 ^@ NM_000256.3(MYBPC3):c.1790+7G>A http://identifiers.org/clinvar/42568 ^@ NM_000256.3(MYBPC3):c.1800delA (p.Lys600Asnfs) http://identifiers.org/clinvar/42569 ^@ NM_000256.3(MYBPC3):c.1803G>A (p.Leu601=) http://identifiers.org/clinvar/42570 ^@ NM_000256.3(MYBPC3):c.1808T>C (p.Ile603Thr) http://identifiers.org/clinvar/42571 ^@ NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) http://identifiers.org/clinvar/42572 ^@ NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) http://identifiers.org/clinvar/42573 ^@ NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) http://identifiers.org/clinvar/42574 ^@ NM_000256.3(MYBPC3):c.1814_1816delACG (p.Asp605del) http://identifiers.org/clinvar/42575 ^@ NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) http://identifiers.org/clinvar/42576 ^@ NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) http://identifiers.org/clinvar/42577 ^@ NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) http://identifiers.org/clinvar/42578 ^@ NM_000256.3(MYBPC3):c.1863delC (p.Phe621Leufs) http://identifiers.org/clinvar/42579 ^@ NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) http://identifiers.org/clinvar/42580 ^@ NM_000256.3(MYBPC3):c.1892delT (p.Phe631Serfs) http://identifiers.org/clinvar/42581 ^@ NM_000256.3(MYBPC3):c.1895delT (p.Met632Argfs) http://identifiers.org/clinvar/42582 ^@ NM_000256.3(MYBPC3):c.1897+1G>A http://identifiers.org/clinvar/42583 ^@ NM_000256.3(MYBPC3):c.1897+5G>A http://identifiers.org/clinvar/42584 ^@ NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=) http://identifiers.org/clinvar/42585 ^@ NM_000256.3(MYBPC3):c.1928-2A>G http://identifiers.org/clinvar/42586 ^@ NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) http://identifiers.org/clinvar/42587 ^@ NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) http://identifiers.org/clinvar/42588 ^@ NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) http://identifiers.org/clinvar/42589 ^@ NM_000256.3(MYBPC3):c.1968A>G (p.Pro656=) http://identifiers.org/clinvar/42590 ^@ NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) http://identifiers.org/clinvar/42591 ^@ NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) http://identifiers.org/clinvar/42592 ^@ NM_000256.3(MYBPC3):c.2013_2016delCCCTinsGG (p.Pro672Aspfs) http://identifiers.org/clinvar/42593 ^@ NM_000256.3(MYBPC3):c.2040dupT (p.Val681Cysfs) http://identifiers.org/clinvar/42594 ^@ NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) http://identifiers.org/clinvar/42595 ^@ NM_000256.3(MYBPC3):c.207G>C (p.Arg69=) http://identifiers.org/clinvar/42596 ^@ NM_000256.3(MYBPC3):c.2096delC (p.Pro699Glnfs) http://identifiers.org/clinvar/42597 ^@ NM_000256.3(MYBPC3):c.2113dupA (p.Thr705Asnfs) http://identifiers.org/clinvar/42598 ^@ NM_000256.3(MYBPC3):c.2148+6_2148+9delTGAG http://identifiers.org/clinvar/42599 ^@ NM_000256.3(MYBPC3):c.2149-5C>T http://identifiers.org/clinvar/42600 ^@ NM_000256.3(MYBPC3):c.2149-8C>G http://identifiers.org/clinvar/42601 ^@ NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=) http://identifiers.org/clinvar/42602 ^@ NM_000256.3(MYBPC3):c.2163delC (p.Glu722Argfs) http://identifiers.org/clinvar/42603 ^@ NM_000256.3(MYBPC3):c.2177G>A (p.Arg726His) http://identifiers.org/clinvar/42604 ^@ NM_000256.3(MYBPC3):c.2178C>T (p.Arg726=) http://identifiers.org/clinvar/42605 ^@ NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) http://identifiers.org/clinvar/42606 ^@ NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) http://identifiers.org/clinvar/42607 ^@ NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) http://identifiers.org/clinvar/42608 ^@ NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) http://identifiers.org/clinvar/42609 ^@ NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) http://identifiers.org/clinvar/42610 ^@ NM_000256.3(MYBPC3):c.2308+1G>A http://identifiers.org/clinvar/42611 ^@ NM_000256.3(MYBPC3):c.2308+1G>T http://identifiers.org/clinvar/42612 ^@ NM_000256.3(MYBPC3):c.2309-20G>A http://identifiers.org/clinvar/42613 ^@ NM_000256.3(MYBPC3):c.2309-2A>G http://identifiers.org/clinvar/42614 ^@ NM_000256.3(MYBPC3):c.2310C>T (p.Asp770=) http://identifiers.org/clinvar/42615 ^@ NM_000256.3(MYBPC3):c.2311dupG (p.Val771Glyfs) http://identifiers.org/clinvar/42616 ^@ NM_000256.3(MYBPC3):c.2312T>C (p.Val771Ala) http://identifiers.org/clinvar/42617 ^@ NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=) http://identifiers.org/clinvar/42618 ^@ NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) http://identifiers.org/clinvar/42619 ^@ NM_000256.3(MYBPC3):c.2373dupG (p.Trp792Valfs) http://identifiers.org/clinvar/42620 ^@ NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) http://identifiers.org/clinvar/42621 ^@ NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) http://identifiers.org/clinvar/42622 ^@ NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) http://identifiers.org/clinvar/42623 ^@ NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) http://identifiers.org/clinvar/42624 ^@ NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) http://identifiers.org/clinvar/42625 ^@ NM_000256.3(MYBPC3):c.2490dupT (p.His831Serfs) http://identifiers.org/clinvar/42626 ^@ NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) http://identifiers.org/clinvar/42627 ^@ NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) http://identifiers.org/clinvar/42628 ^@ NM_000256.3(MYBPC3):c.2499G>A (p.Ala833=) http://identifiers.org/clinvar/42629 ^@ NM_000256.3(MYBPC3):c.25+3A>C http://identifiers.org/clinvar/42630 ^@ NM_000256.3(MYBPC3):c.2512G>A (p.Glu838Lys) http://identifiers.org/clinvar/42631 ^@ NM_000256.3(MYBPC3):c.2518G>A (p.Val840Met) http://identifiers.org/clinvar/42632 ^@ NM_000256.3(MYBPC3):c.2524dupT (p.Tyr842Leufs) http://identifiers.org/clinvar/42633 ^@ NM_000256.3(MYBPC3):c.2525A>G (p.Tyr842Cys) http://identifiers.org/clinvar/42634 ^@ NM_000256.3(MYBPC3):c.2528_2536delAGATGCGCG (p.Glu843_Arg845del) http://identifiers.org/clinvar/42635 ^@ NM_000256.3(MYBPC3):c.2534_2538delGCGTC (p.Arg845Leufs) http://identifiers.org/clinvar/42636 ^@ NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) http://identifiers.org/clinvar/42637 ^@ NM_000256.3(MYBPC3):c.2544G>A (p.Ala848=) http://identifiers.org/clinvar/42638 ^@ NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) http://identifiers.org/clinvar/42639 ^@ NM_000256.3(MYBPC3):c.2556_2557delCGinsTCT (p.Gly853Leufs) http://identifiers.org/clinvar/42640 ^@ NM_000256.3(MYBPC3):c.2557G>A (p.Gly853Ser) http://identifiers.org/clinvar/42641 ^@ NM_000256.3(MYBPC3):c.2558delG (p.Gly853Alafs) http://identifiers.org/clinvar/42642 ^@ NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) http://identifiers.org/clinvar/42643 ^@ NM_000256.3(MYBPC3):c.26-10G>A http://identifiers.org/clinvar/42644 ^@ NM_000256.3(MYBPC3):c.26-2A>G http://identifiers.org/clinvar/42645 ^@ NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) http://identifiers.org/clinvar/42646 ^@ NM_000256.3(MYBPC3):c.2610dupC (p.Ser871Glnfs) http://identifiers.org/clinvar/42647 ^@ NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) http://identifiers.org/clinvar/42648 ^@ NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) http://identifiers.org/clinvar/42649 ^@ NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met) http://identifiers.org/clinvar/42650 ^@ NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) http://identifiers.org/clinvar/42651 ^@ NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) http://identifiers.org/clinvar/42652 ^@ NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) http://identifiers.org/clinvar/42653 ^@ NM_000256.3(MYBPC3):c.2737+12C>T http://identifiers.org/clinvar/42654 ^@ NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn) http://identifiers.org/clinvar/42655 ^@ NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys) http://identifiers.org/clinvar/42656 ^@ NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) http://identifiers.org/clinvar/42657 ^@ NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=) http://identifiers.org/clinvar/42658 ^@ NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) http://identifiers.org/clinvar/42659 ^@ NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln) http://identifiers.org/clinvar/42660 ^@ NM_000256.3(MYBPC3):c.2833_2834delCG (p.Arg945Glyfs) http://identifiers.org/clinvar/42661 ^@ NM_000256.3(MYBPC3):c.2839C>A (p.His947Asn) http://identifiers.org/clinvar/42662 ^@ NM_000256.3(MYBPC3):c.2856T>G (p.Pro952=) http://identifiers.org/clinvar/42663 ^@ NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) http://identifiers.org/clinvar/42664 ^@ NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) http://identifiers.org/clinvar/42665 ^@ NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) http://identifiers.org/clinvar/42666 ^@ NM_000256.3(MYBPC3):c.2905+1G>A http://identifiers.org/clinvar/42667 ^@ NM_000256.3(MYBPC3):c.2905+1G>C http://identifiers.org/clinvar/42668 ^@ NM_000256.3(MYBPC3):c.2905+5G>T http://identifiers.org/clinvar/42669 ^@ NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) http://identifiers.org/clinvar/42670 ^@ NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) http://identifiers.org/clinvar/42671 ^@ NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) http://identifiers.org/clinvar/42672 ^@ NM_000256.3(MYBPC3):c.2943_2947delGACCA (p.Gln981Hisfs) http://identifiers.org/clinvar/42673 ^@ NM_000256.3(MYBPC3):c.2995-5C>G http://identifiers.org/clinvar/42674 ^@ NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) http://identifiers.org/clinvar/42675 ^@ NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=) http://identifiers.org/clinvar/42676 ^@ NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) http://identifiers.org/clinvar/42677 ^@ NM_000256.3(MYBPC3):c.3040delC (p.Leu1014Trpfs) http://identifiers.org/clinvar/42678 ^@ NM_000256.3(MYBPC3):c.3048C>T (p.Gly1016=) http://identifiers.org/clinvar/42679 ^@ NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys) http://identifiers.org/clinvar/42680 ^@ NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) http://identifiers.org/clinvar/42681 ^@ NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His) http://identifiers.org/clinvar/42682 ^@ NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) http://identifiers.org/clinvar/42683 ^@ NM_000256.3(MYBPC3):c.3068dupA (p.Asn1023Lysfs) http://identifiers.org/clinvar/42684 ^@ NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser) http://identifiers.org/clinvar/42685 ^@ NM_000256.3(MYBPC3):c.3087C>T (p.Ile1029=) http://identifiers.org/clinvar/42686 ^@ NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) http://identifiers.org/clinvar/42687 ^@ NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) http://identifiers.org/clinvar/42688 ^@ NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) http://identifiers.org/clinvar/42689 ^@ NM_000256.3(MYBPC3):c.3171G>A (p.Thr1057=) http://identifiers.org/clinvar/42690 ^@ NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) http://identifiers.org/clinvar/42691 ^@ NM_000256.3(MYBPC3):c.3190+2T>G http://identifiers.org/clinvar/42692 ^@ NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) http://identifiers.org/clinvar/42693 ^@ NM_000256.3(MYBPC3):c.3192dupC (p.Lys1065Glnfs) http://identifiers.org/clinvar/42694 ^@ NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076Valfs) http://identifiers.org/clinvar/42695 ^@ NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) http://identifiers.org/clinvar/42696 ^@ NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) http://identifiers.org/clinvar/42697 ^@ NM_000256.3(MYBPC3):c.326C>T (p.Ala109Val) http://identifiers.org/clinvar/42698 ^@ NM_000256.3(MYBPC3):c.3281A>T (p.Asn1094Ile) http://identifiers.org/clinvar/42699 ^@ NM_000256.3(MYBPC3):c.3285G>C (p.Thr1095=) http://identifiers.org/clinvar/42700 ^@ NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) http://identifiers.org/clinvar/42701 ^@ NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) http://identifiers.org/clinvar/42702 ^@ NM_000256.3(MYBPC3):c.3297dupG (p.Tyr1100Valfs) http://identifiers.org/clinvar/42703 ^@ NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) http://identifiers.org/clinvar/42704 ^@ NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr) http://identifiers.org/clinvar/42705 ^@ NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) http://identifiers.org/clinvar/42706 ^@ NM_000256.3(MYBPC3):c.3330+5G>C http://identifiers.org/clinvar/42707 ^@ NM_000256.3(MYBPC3):c.3330+5G>T http://identifiers.org/clinvar/42708 ^@ NM_000256.3(MYBPC3):c.333T>C (p.Ala111=) http://identifiers.org/clinvar/42709 ^@ NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) http://identifiers.org/clinvar/42710 ^@ NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp) http://identifiers.org/clinvar/42711 ^@ NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) http://identifiers.org/clinvar/42712 ^@ NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) http://identifiers.org/clinvar/42713 ^@ NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) http://identifiers.org/clinvar/42714 ^@ NM_000256.3(MYBPC3):c.3476_3479dupTTAT (p.Pro1161Tyrfs) http://identifiers.org/clinvar/42715 ^@ NM_000256.3(MYBPC3):c.3490+1G>A http://identifiers.org/clinvar/42716 ^@ NM_000256.3(MYBPC3):c.3490+6G>A http://identifiers.org/clinvar/42717 ^@ NM_000256.3(MYBPC3):c.3491-2A>T http://identifiers.org/clinvar/42718 ^@ NM_000256.3(MYBPC3):c.350delC (p.Pro117Leufs) http://identifiers.org/clinvar/42719 ^@ NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) http://identifiers.org/clinvar/42720 ^@ NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys) http://identifiers.org/clinvar/42721 ^@ NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys) http://identifiers.org/clinvar/42722 ^@ NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) http://identifiers.org/clinvar/42723 ^@ NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr) http://identifiers.org/clinvar/42724 ^@ NM_000256.3(MYBPC3):c.3585C>A (p.Gly1195=) http://identifiers.org/clinvar/42725 ^@ NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) http://identifiers.org/clinvar/42726 ^@ NM_000256.3(MYBPC3):c.3624dupC (p.Lys1209Glnfs) http://identifiers.org/clinvar/42727 ^@ NM_000256.3(MYBPC3):c.3624delC (p.Lys1209Serfs) http://identifiers.org/clinvar/42728 ^@ NM_000256.3(MYBPC3):c.3627+1G>A http://identifiers.org/clinvar/42729 ^@ NM_000256.3(MYBPC3):c.362delC (p.Pro121Argfs) http://identifiers.org/clinvar/42730 ^@ NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) http://identifiers.org/clinvar/42731 ^@ NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) http://identifiers.org/clinvar/42732 ^@ NM_000256.3(MYBPC3):c.3677G>T (p.Arg1226Leu) http://identifiers.org/clinvar/42733 ^@ NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) http://identifiers.org/clinvar/42734 ^@ NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=) http://identifiers.org/clinvar/42735 ^@ NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) http://identifiers.org/clinvar/42736 ^@ NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) http://identifiers.org/clinvar/42737 ^@ NM_000256.3(MYBPC3):c.3735delC (p.Phe1246Leufs) http://identifiers.org/clinvar/42738 ^@ NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser) http://identifiers.org/clinvar/42739 ^@ NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) http://identifiers.org/clinvar/42740 ^@ NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) http://identifiers.org/clinvar/42741 ^@ NM_000256.3(MYBPC3):c.3767_3769delCCA (p.Thr1256del) http://identifiers.org/clinvar/42742 ^@ NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) http://identifiers.org/clinvar/42743 ^@ NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) http://identifiers.org/clinvar/42744 ^@ NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) http://identifiers.org/clinvar/42745 ^@ NM_000256.3(MYBPC3):c.3815-10T>G http://identifiers.org/clinvar/42746 ^@ NM_000256.3(MYBPC3):c.3815-1G>A http://identifiers.org/clinvar/42747 ^@ NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/42748 ^@ NM_000256.3(MYBPC3):c.402C>T (p.Pro134=) http://identifiers.org/clinvar/42749 ^@ NM_000256.3(MYBPC3):c.431_432delGT (p.Gly144Alafs) http://identifiers.org/clinvar/42750 ^@ NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) http://identifiers.org/clinvar/42751 ^@ NM_000256.3(MYBPC3):c.436dupA (p.Thr146Asnfs) http://identifiers.org/clinvar/42752 ^@ NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) http://identifiers.org/clinvar/42753 ^@ NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) http://identifiers.org/clinvar/42754 ^@ NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn) http://identifiers.org/clinvar/42755 ^@ NM_000256.3(MYBPC3):c.459delC (p.Ile154Leufs) http://identifiers.org/clinvar/42756 ^@ NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) http://identifiers.org/clinvar/42757 ^@ NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) http://identifiers.org/clinvar/42758 ^@ NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) http://identifiers.org/clinvar/42759 ^@ NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) http://identifiers.org/clinvar/42760 ^@ NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) http://identifiers.org/clinvar/42761 ^@ NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) http://identifiers.org/clinvar/42762 ^@ NM_000256.3(MYBPC3):c.505+6T>G http://identifiers.org/clinvar/42763 ^@ NM_000256.3(MYBPC3):c.506-12delC http://identifiers.org/clinvar/42764 ^@ NM_000256.3(MYBPC3):c.506-1G>T http://identifiers.org/clinvar/42765 ^@ NM_000256.3(MYBPC3):c.506-2A>C http://identifiers.org/clinvar/42766 ^@ NM_000256.3(MYBPC3):c.518C>A (p.Thr173Asn) http://identifiers.org/clinvar/42767 ^@ NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) http://identifiers.org/clinvar/42768 ^@ NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) http://identifiers.org/clinvar/42769 ^@ NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) http://identifiers.org/clinvar/42770 ^@ NM_000256.3(MYBPC3):c.540_559del20 (p.Ala181Cysfs) http://identifiers.org/clinvar/42771 ^@ NM_000256.3(MYBPC3):c.551dupT (p.Lys185Glufs) http://identifiers.org/clinvar/42772 ^@ NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) http://identifiers.org/clinvar/42773 ^@ NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) http://identifiers.org/clinvar/42774 ^@ NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) http://identifiers.org/clinvar/42775 ^@ NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) http://identifiers.org/clinvar/42776 ^@ NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg) http://identifiers.org/clinvar/42777 ^@ NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) http://identifiers.org/clinvar/42778 ^@ NM_000256.3(MYBPC3):c.645C>T (p.Arg215=) http://identifiers.org/clinvar/42779 ^@ NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) http://identifiers.org/clinvar/42780 ^@ NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) http://identifiers.org/clinvar/42781 ^@ NM_000256.3(MYBPC3):c.654+12G>A http://identifiers.org/clinvar/42782 ^@ NM_000256.3(MYBPC3):c.654+5G>A http://identifiers.org/clinvar/42783 ^@ NM_000256.3(MYBPC3):c.655-1G>A http://identifiers.org/clinvar/42784 ^@ NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) http://identifiers.org/clinvar/42785 ^@ NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) http://identifiers.org/clinvar/42786 ^@ NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) http://identifiers.org/clinvar/42787 ^@ NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) http://identifiers.org/clinvar/42788 ^@ NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg) http://identifiers.org/clinvar/42789 ^@ NM_000256.3(MYBPC3):c.772+10C>T http://identifiers.org/clinvar/42790 ^@ NM_000256.3(MYBPC3):c.772+1G>A http://identifiers.org/clinvar/42791 ^@ NM_000256.3(MYBPC3):c.821+1G>A http://identifiers.org/clinvar/42792 ^@ NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) http://identifiers.org/clinvar/42793 ^@ NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) http://identifiers.org/clinvar/42794 ^@ NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys) http://identifiers.org/clinvar/42795 ^@ NM_000256.3(MYBPC3):c.821+2T>C http://identifiers.org/clinvar/42796 ^@ NM_000256.3(MYBPC3):c.821+5G>A http://identifiers.org/clinvar/42797 ^@ NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) http://identifiers.org/clinvar/42798 ^@ NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) http://identifiers.org/clinvar/42799 ^@ NM_000256.3(MYBPC3):c.852-6C>T http://identifiers.org/clinvar/42800 ^@ NM_000256.3(MYBPC3):c.906-7G>T http://identifiers.org/clinvar/42801 ^@ NM_000256.3(MYBPC3):c.913_914delTT (p.Phe305Profs) http://identifiers.org/clinvar/42802 ^@ NM_000256.3(MYBPC3):c.917G>A (p.Arg306Gln) http://identifiers.org/clinvar/42803 ^@ NM_000256.3(MYBPC3):c.926+4A>G http://identifiers.org/clinvar/42804 ^@ NM_000256.3(MYBPC3):c.926+8C>T http://identifiers.org/clinvar/42805 ^@ NM_000256.3(MYBPC3):c.927-10C>A http://identifiers.org/clinvar/42806 ^@ NM_000256.3(MYBPC3):c.927-2A>G http://identifiers.org/clinvar/42807 ^@ NM_000256.3(MYBPC3):c.927-9G>A http://identifiers.org/clinvar/42808 ^@ NM_000256.3(MYBPC3):c.931T>A (p.Ser311Thr) http://identifiers.org/clinvar/42809 ^@ NM_000256.3(MYBPC3):c.933G>A (p.Ser311=) http://identifiers.org/clinvar/42810 ^@ NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) http://identifiers.org/clinvar/42811 ^@ NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) http://identifiers.org/clinvar/42812 ^@ NM_000256.3(MYBPC3):c.960C>T (p.Asp320=) http://identifiers.org/clinvar/42813 ^@ NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) http://identifiers.org/clinvar/42814 ^@ NM_000256.3(MYBPC3):c.984_1054del71 (p.Pro329Glnfs) http://identifiers.org/clinvar/42815 ^@ NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) http://identifiers.org/clinvar/42816 ^@ NM_000257.3(MYH7):c.1000-7C>T http://identifiers.org/clinvar/42817 ^@ NM_000257.3(MYH7):c.1002C>T (p.Asn334=) http://identifiers.org/clinvar/42818 ^@ NM_000257.3(MYH7):c.1013T>C (p.Val338Ala) http://identifiers.org/clinvar/42819 ^@ NM_000257.3(MYH7):c.1062C>T (p.Gly354=) http://identifiers.org/clinvar/42820 ^@ NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) http://identifiers.org/clinvar/42821 ^@ NM_000257.3(MYH7):c.1095G>A (p.Lys365=) http://identifiers.org/clinvar/42822 ^@ NM_000257.3(MYH7):c.1106G>A (p.Arg369Gln) http://identifiers.org/clinvar/42823 ^@ NM_000257.3(MYH7):c.1128C>T (p.Asp376=) http://identifiers.org/clinvar/42824 ^@ NM_000257.3(MYH7):c.1132A>C (p.Thr378Pro) http://identifiers.org/clinvar/42825 ^@ NM_000257.3(MYH7):c.1139-14C>T http://identifiers.org/clinvar/42826 ^@ NM_000257.3(MYH7):c.1148A>G (p.Lys383Arg) http://identifiers.org/clinvar/42827 ^@ NM_000257.3(MYH7):c.115G>A (p.Val39Met) http://identifiers.org/clinvar/42828 ^@ NM_000257.3(MYH7):c.1180G>A (p.Asp394Asn) http://identifiers.org/clinvar/42829 ^@ NM_000257.3(MYH7):c.1191G>A (p.Lys397=) http://identifiers.org/clinvar/42830 ^@ NM_000257.3(MYH7):c.1204C>A (p.Pro402Thr) http://identifiers.org/clinvar/42831 ^@ NM_000257.3(MYH7):c.1220G>T (p.Gly407Val) http://identifiers.org/clinvar/42832 ^@ NM_000257.3(MYH7):c.1251C>G (p.Val417=) http://identifiers.org/clinvar/42833 ^@ NM_000257.3(MYH7):c.1323G>A (p.Thr441=) http://identifiers.org/clinvar/42834 ^@ NM_000257.3(MYH7):c.1273G>A (p.Gly425Arg) http://identifiers.org/clinvar/42835 ^@ NM_000257.3(MYH7):c.1318G>A (p.Val440Met) http://identifiers.org/clinvar/42836 ^@ NM_000257.3(MYH7):c.1332T>C (p.Asn444=) http://identifiers.org/clinvar/42837 ^@ NM_000257.3(MYH7):c.1352A>C (p.Gln451Pro) http://identifiers.org/clinvar/42838 ^@ NM_000257.3(MYH7):c.1358G>A (p.Arg453His) http://identifiers.org/clinvar/42839 ^@ NM_000257.3(MYH7):c.135G>T (p.Glu45Asp) http://identifiers.org/clinvar/42840 ^@ NM_000257.3(MYH7):c.1370T>C (p.Ile457Thr) http://identifiers.org/clinvar/42841 ^@ NM_000257.3(MYH7):c.137T>G (p.Phe46Cys) http://identifiers.org/clinvar/42842 ^@ NM_000257.3(MYH7):c.1384A>T (p.Ile462Phe) http://identifiers.org/clinvar/42843 ^@ NM_000257.3(MYH7):c.1395C>T (p.Phe465=) http://identifiers.org/clinvar/42844 ^@ NM_000257.3(MYH7):c.1405G>T (p.Asp469Tyr) http://identifiers.org/clinvar/42845 ^@ NM_000257.3(MYH7):c.1426C>G (p.Leu476Val) http://identifiers.org/clinvar/42846 ^@ NM_000257.3(MYH7):c.1518C>T (p.Ile506=) http://identifiers.org/clinvar/42847 ^@ NM_000257.3(MYH7):c.1514G>T (p.Gly505Val) http://identifiers.org/clinvar/42848 ^@ NM_000257.3(MYH7):c.1532T>C (p.Ile511Thr) http://identifiers.org/clinvar/42849 ^@ NM_000257.3(MYH7):c.1541G>A (p.Gly514Asp) http://identifiers.org/clinvar/42850 ^@ NM_000257.3(MYH7):c.156G>A (p.Val52=) http://identifiers.org/clinvar/42851 ^@ NM_000257.3(MYH7):c.1597A>G (p.Ile533Val) http://identifiers.org/clinvar/42852 ^@ NM_000257.3(MYH7):c.1598T>A (p.Ile533Asn) http://identifiers.org/clinvar/42853 ^@ NM_000257.3(MYH7):c.1605A>G (p.Glu535=) http://identifiers.org/clinvar/42854 ^@ NM_000257.3(MYH7):c.1608G>A (p.Glu536=) http://identifiers.org/clinvar/42855 ^@ NM_000257.3(MYH7):c.1612T>C (p.Cys538Arg) http://identifiers.org/clinvar/42856 ^@ NM_000257.3(MYH7):c.161G>A (p.Arg54Gln) http://identifiers.org/clinvar/42857 ^@ NM_000257.3(MYH7):c.1684A>G (p.Asn562Asp) http://identifiers.org/clinvar/42858 ^@ NM_000257.3(MYH7):c.1630A>G (p.Thr544Ala) http://identifiers.org/clinvar/42859 ^@ NM_000257.3(MYH7):c.1653G>A (p.Lys551=) http://identifiers.org/clinvar/42860 ^@ NM_000257.3(MYH7):c.1700G>A (p.Arg567His) http://identifiers.org/clinvar/42861 ^@ NM_000257.3(MYH7):c.1742A>G (p.His581Arg) http://identifiers.org/clinvar/42862 ^@ NM_000257.3(MYH7):c.1750G>A (p.Gly584Ser) http://identifiers.org/clinvar/42863 ^@ NM_000257.3(MYH7):c.1755C>A (p.Ile585=) http://identifiers.org/clinvar/42864 ^@ NM_000257.3(MYH7):c.1767C>T (p.Asn589=) http://identifiers.org/clinvar/42865 ^@ NM_000257.3(MYH7):c.1757T>C (p.Val586Ala) http://identifiers.org/clinvar/42866 ^@ NM_000257.3(MYH7):c.1791C>A (p.Asn597Lys) http://identifiers.org/clinvar/42867 ^@ NM_000257.3(MYH7):c.1798C>T (p.Pro600Ser) http://identifiers.org/clinvar/42868 ^@ NM_000257.3(MYH7):c.1888+8G>T http://identifiers.org/clinvar/42869 ^@ NM_000257.3(MYH7):c.189C>T (p.Thr63=) http://identifiers.org/clinvar/42870 ^@ NM_000257.3(MYH7):c.1888C>T (p.Pro630Ser) http://identifiers.org/clinvar/42871 ^@ NM_000257.3(MYH7):c.1892T>C (p.Ile631Thr) http://identifiers.org/clinvar/42872 ^@ NM_000257.3(MYH7):c.1926G>A (p.Ser642=) http://identifiers.org/clinvar/42873 ^@ NM_000257.3(MYH7):c.1983C>T (p.Asn661=) http://identifiers.org/clinvar/42874 ^@ NM_000257.3(MYH7):c.1987C>T (p.Arg663Cys) http://identifiers.org/clinvar/42875 ^@ NM_000257.3(MYH7):c.1988G>A (p.Arg663His) http://identifiers.org/clinvar/42876 ^@ NM_000257.3(MYH7):c.2069T>C (p.Met690Thr) http://identifiers.org/clinvar/42877 ^@ NM_000257.3(MYH7):c.208A>T (p.Thr70Ser) http://identifiers.org/clinvar/42878 ^@ NM_000257.3(MYH7):c.2093T>C (p.Val698Ala) http://identifiers.org/clinvar/42879 ^@ NM_000257.3(MYH7):c.2101G>A (p.Gly701Ser) http://identifiers.org/clinvar/42880 ^@ NM_000257.3(MYH7):c.2105T>A (p.Ile702Asn) http://identifiers.org/clinvar/42881 ^@ NM_000257.3(MYH7):c.2117G>C (p.Arg706Thr) http://identifiers.org/clinvar/42882 ^@ NM_000257.3(MYH7):c.2123G>C (p.Gly708Ala) http://identifiers.org/clinvar/42883 ^@ NM_000257.3(MYH7):c.2123G>T (p.Gly708Val) http://identifiers.org/clinvar/42884 ^@ NM_000257.3(MYH7):c.2162+4G>A http://identifiers.org/clinvar/42885 ^@ NM_000257.3(MYH7):c.2167C>G (p.Arg723Gly) http://identifiers.org/clinvar/42886 ^@ NM_000257.3(MYH7):c.2168G>A (p.Arg723His) http://identifiers.org/clinvar/42887 ^@ NM_000257.3(MYH7):c.2171T>A (p.Ile724Asn) http://identifiers.org/clinvar/42888 ^@ NM_000257.3(MYH7):c.2178C>A (p.Asn726Lys) http://identifiers.org/clinvar/42889 ^@ NM_000257.3(MYH7):c.2206A>G (p.Ile736Val) http://identifiers.org/clinvar/42890 ^@ NM_000257.3(MYH7):c.2221G>A (p.Gly741Arg) http://identifiers.org/clinvar/42891 ^@ NM_000257.3(MYH7):c.2229G>A (p.Glu743=) http://identifiers.org/clinvar/42892 ^@ NM_000257.3(MYH7):c.2285A>G (p.Lys762Arg) http://identifiers.org/clinvar/42893 ^@ NM_000257.3(MYH7):c.2296A>C (p.Lys766Gln) http://identifiers.org/clinvar/42894 ^@ NM_000257.3(MYH7):c.2334C>T (p.Asp778=) http://identifiers.org/clinvar/42895 ^@ NM_000257.3(MYH7):c.2348G>C (p.Arg783Pro) http://identifiers.org/clinvar/42896 ^@ NM_000257.3(MYH7):c.2349C>T (p.Arg783=) http://identifiers.org/clinvar/42897 ^@ NM_000257.3(MYH7):c.2352C>T (p.Ile784=) http://identifiers.org/clinvar/42898 ^@ NM_000257.3(MYH7):c.2358G>A (p.Thr786=) http://identifiers.org/clinvar/42899 ^@ NM_000257.3(MYH7):c.2388C>T (p.Leu796=) http://identifiers.org/clinvar/42900 ^@ NM_000257.3(MYH7):c.2360G>A (p.Arg787His) http://identifiers.org/clinvar/42901 ^@ NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) http://identifiers.org/clinvar/42902 ^@ NM_000257.3(MYH7):c.2401T>A (p.Tyr801Asn) http://identifiers.org/clinvar/42903 ^@ NM_000257.3(MYH7):c.2424-5T>C http://identifiers.org/clinvar/42904 ^@ NM_000257.3(MYH7):c.2425G>T (p.Asp809Tyr) http://identifiers.org/clinvar/42905 ^@ NM_000257.3(MYH7):c.2462T>C (p.Phe821Ser) http://identifiers.org/clinvar/42906 ^@ NM_000257.3(MYH7):c.2470G>C (p.Val824Leu) http://identifiers.org/clinvar/42907 ^@ NM_000257.3(MYH7):c.2472C>T (p.Val824=) http://identifiers.org/clinvar/42908 ^@ NM_000257.3(MYH7):c.2499C>T (p.Tyr833=) http://identifiers.org/clinvar/42909 ^@ NM_000257.3(MYH7):c.2502C>G (p.Phe834Leu) http://identifiers.org/clinvar/42910 ^@ NM_000257.3(MYH7):c.2513C>T (p.Pro838Leu) http://identifiers.org/clinvar/42911 ^@ NM_000257.3(MYH7):c.2514G>A (p.Pro838=) http://identifiers.org/clinvar/42912 ^@ NM_000257.3(MYH7):c.2525G>A (p.Ser842Asn) http://identifiers.org/clinvar/42913 ^@ NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) http://identifiers.org/clinvar/42914 ^@ NM_000257.3(MYH7):c.2546T>C (p.Met849Thr) http://identifiers.org/clinvar/42915 ^@ NM_000257.3(MYH7):c.2553C>A (p.Ser851=) http://identifiers.org/clinvar/42916 ^@ NM_000257.3(MYH7):c.2555T>C (p.Met852Thr) http://identifiers.org/clinvar/42917 ^@ NM_000257.3(MYH7):c.2570C>T (p.Thr857Ile) http://identifiers.org/clinvar/42918 ^@ NM_000257.3(MYH7):c.261C>T (p.Ile87=) http://identifiers.org/clinvar/42919 ^@ NM_000257.3(MYH7):c.2623_2625delGAG (p.Glu875del) http://identifiers.org/clinvar/42920 ^@ NM_000257.3(MYH7):c.2637C>T (p.Ser879=) http://identifiers.org/clinvar/42921 ^@ NM_000257.3(MYH7):c.2644C>G (p.Gln882Glu) http://identifiers.org/clinvar/42922 ^@ NM_000257.3(MYH7):c.2681A>G (p.Glu894Gly) http://identifiers.org/clinvar/42923 ^@ NM_000257.3(MYH7):c.2683C>G (p.Gln895Glu) http://identifiers.org/clinvar/42924 ^@ NM_000257.3(MYH7):c.2699A>G (p.Asp900Gly) http://identifiers.org/clinvar/42925 ^@ NM_000257.3(MYH7):c.2716G>A (p.Asp906Asn) http://identifiers.org/clinvar/42926 ^@ NM_000257.3(MYH7):c.2711G>A (p.Arg904His) http://identifiers.org/clinvar/42927 ^@ NM_000257.3(MYH7):c.2744T>C (p.Leu915Pro) http://identifiers.org/clinvar/42928 ^@ NM_000257.3(MYH7):c.2719C>A (p.Gln907Lys) http://identifiers.org/clinvar/42929 ^@ NM_000257.3(MYH7):c.2725A>G (p.Ile909Val) http://identifiers.org/clinvar/42930 ^@ NM_000257.3(MYH7):c.2746G>A (p.Glu916Lys) http://identifiers.org/clinvar/42931 ^@ NM_000257.3(MYH7):c.2769C>T (p.Asn923=) http://identifiers.org/clinvar/42932 ^@ NM_000257.3(MYH7):c.2779G>A (p.Glu927Lys) http://identifiers.org/clinvar/42933 ^@ NM_000257.3(MYH7):c.2788G>A (p.Glu930Lys) http://identifiers.org/clinvar/42934 ^@ NM_000257.3(MYH7):c.2791_2793delGAG (p.Glu931del) http://identifiers.org/clinvar/42935 ^@ NM_000257.3(MYH7):c.2799T>C (p.Asn933=) http://identifiers.org/clinvar/42936 ^@ NM_000257.3(MYH7):c.2802T>G (p.Ala934=) http://identifiers.org/clinvar/42937 ^@ NM_000257.3(MYH7):c.2846A>T (p.Glu949Val) http://identifiers.org/clinvar/42938 ^@ NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) http://identifiers.org/clinvar/42939 ^@ NM_000257.3(MYH7):c.2907C>T (p.His969=) http://identifiers.org/clinvar/42940 ^@ NM_000257.3(MYH7):c.2922G>A (p.Lys974=) http://identifiers.org/clinvar/42941 ^@ NM_000257.3(MYH7):c.2945T>C (p.Met982Thr) http://identifiers.org/clinvar/42942 ^@ NM_000257.3(MYH7):c.2967T>C (p.Ile989=) http://identifiers.org/clinvar/42943 ^@ NM_000257.3(MYH7):c.2979C>T (p.Thr993=) http://identifiers.org/clinvar/42944 ^@ NM_000257.3(MYH7):c.297C>T (p.Pro99=) http://identifiers.org/clinvar/42945 ^@ NM_000257.3(MYH7):c.3036C>T (p.Ala1012=) http://identifiers.org/clinvar/42946 ^@ NM_000257.3(MYH7):c.3153G>A (p.Ala1051=) http://identifiers.org/clinvar/42947 ^@ NM_000257.3(MYH7):c.3083A>G (p.Glu1028Gly) http://identifiers.org/clinvar/42948 ^@ NM_000257.3(MYH7):c.3134G>T (p.Arg1045Leu) http://identifiers.org/clinvar/42949 ^@ NM_000257.3(MYH7):c.3156G>A (p.Lys1052=) http://identifiers.org/clinvar/42950 ^@ NM_000257.3(MYH7):c.3169G>A (p.Gly1057Ser) http://identifiers.org/clinvar/42951 ^@ NM_000257.3(MYH7):c.3273C>T (p.Asn1091=) http://identifiers.org/clinvar/42952 ^@ NM_000257.3(MYH7):c.327C>T (p.Tyr109=) http://identifiers.org/clinvar/42953 ^@ NM_000257.3(MYH7):c.3286G>T (p.Asp1096Tyr) http://identifiers.org/clinvar/42954 ^@ NM_000257.3(MYH7):c.3336+3G>A http://identifiers.org/clinvar/42955 ^@ NM_000257.3(MYH7):c.3337-10G>A http://identifiers.org/clinvar/42956 ^@ NM_000257.3(MYH7):c.3337-3dupC http://identifiers.org/clinvar/42957 ^@ NM_000257.3(MYH7):c.3351G>A (p.Glu1117=) http://identifiers.org/clinvar/42958 ^@ NM_000257.3(MYH7):c.3637G>A (p.Val1213Met) http://identifiers.org/clinvar/42959 ^@ NM_000257.3(MYH7):c.3382G>A (p.Ala1128Thr) http://identifiers.org/clinvar/42960 ^@ NM_000257.3(MYH7):c.343T>C (p.Tyr115His) http://identifiers.org/clinvar/42961 ^@ NM_000257.3(MYH7):c.3455A>T (p.Glu1152Val) http://identifiers.org/clinvar/42962 ^@ NM_000257.3(MYH7):c.345C>T (p.Tyr115=) http://identifiers.org/clinvar/42963 ^@ NM_000257.3(MYH7):c.3462C>T (p.Gly1154=) http://identifiers.org/clinvar/42964 ^@ NM_000257.3(MYH7):c.3464G>A (p.Gly1155Glu) http://identifiers.org/clinvar/42965 ^@ NM_000257.3(MYH7):c.3578G>A (p.Arg1193His) http://identifiers.org/clinvar/42966 ^@ NM_000257.3(MYH7):c.3610G>C (p.Gly1204Arg) http://identifiers.org/clinvar/42967 ^@ NM_000257.3(MYH7):c.3626A>G (p.Asn1209Ser) http://identifiers.org/clinvar/42968 ^@ NM_000257.3(MYH7):c.3658_3660delGAG (p.Glu1220del) http://identifiers.org/clinvar/42969 ^@ NM_000257.3(MYH7):c.3666C>T (p.Ser1222=) http://identifiers.org/clinvar/42970 ^@ NM_000257.3(MYH7):c.3726+6C>T http://identifiers.org/clinvar/42971 ^@ NM_000257.3(MYH7):c.3734T>A (p.Leu1245Gln) http://identifiers.org/clinvar/42972 ^@ NM_000257.3(MYH7):c.3754T>C (p.Leu1252=) http://identifiers.org/clinvar/42973 ^@ NM_000257.3(MYH7):c.3771T>C (p.Asn1257=) http://identifiers.org/clinvar/42974 ^@ NM_000257.3(MYH7):c.3777C>T (p.His1259=) http://identifiers.org/clinvar/42975 ^@ NM_000257.3(MYH7):c.3803G>A (p.Arg1268His) http://identifiers.org/clinvar/42976 ^@ NM_000257.3(MYH7):c.3830G>A (p.Arg1277Gln) http://identifiers.org/clinvar/42977 ^@ NM_000257.3(MYH7):c.3853+7C>T http://identifiers.org/clinvar/42978 ^@ NM_000257.3(MYH7):c.3856G>A (p.Glu1286Lys) http://identifiers.org/clinvar/42979 ^@ NM_000257.3(MYH7):c.3864C>G (p.Ser1288=) http://identifiers.org/clinvar/42980 ^@ NM_000257.3(MYH7):c.3918C>T (p.Leu1306=) http://identifiers.org/clinvar/42981 ^@ NM_000257.3(MYH7):c.3960G>A (p.Glu1320=) http://identifiers.org/clinvar/42982 ^@ NM_000257.3(MYH7):c.396G>T (p.Pro132=) http://identifiers.org/clinvar/42983 ^@ NM_000257.3(MYH7):c.3972+15C>T http://identifiers.org/clinvar/42984 ^@ NM_000257.3(MYH7):c.3973-2A>T http://identifiers.org/clinvar/42985 ^@ NM_000257.3(MYH7):c.3982G>A (p.Ala1328Thr) http://identifiers.org/clinvar/42986 ^@ NM_000257.3(MYH7):c.3994G>A (p.Ala1332Thr) http://identifiers.org/clinvar/42987 ^@ NM_000257.3(MYH7):c.4004C>T (p.Ser1335Leu) http://identifiers.org/clinvar/42988 ^@ NM_000257.3(MYH7):c.4005G>A (p.Ser1335=) http://identifiers.org/clinvar/42989 ^@ NM_000257.3(MYH7):c.4053G>A (p.Thr1351=) http://identifiers.org/clinvar/42990 ^@ NM_000257.3(MYH7):c.4077C>T (p.Arg1359=) http://identifiers.org/clinvar/42991 ^@ NM_000257.3(MYH7):c.4078G>A (p.Val1360Ile) http://identifiers.org/clinvar/42992 ^@ NM_000257.3(MYH7):c.4130C>T (p.Thr1377Met) http://identifiers.org/clinvar/42993 ^@ NM_000257.3(MYH7):c.4135G>A (p.Ala1379Thr) http://identifiers.org/clinvar/42994 ^@ NM_000257.3(MYH7):c.4136C>A (p.Ala1379Asp) http://identifiers.org/clinvar/42995 ^@ NM_000257.3(MYH7):c.4188G>A (p.Arg1396=) http://identifiers.org/clinvar/42996 ^@ NM_000257.3(MYH7):c.4188G>T (p.Arg1396=) http://identifiers.org/clinvar/42997 ^@ NM_000257.3(MYH7):c.4208C>A (p.Ala1403Asp) http://identifiers.org/clinvar/42998 ^@ NM_000257.3(MYH7):c.4227C>G (p.Ala1409=) http://identifiers.org/clinvar/42999 ^@ NM_000257.3(MYH7):c.4210G>A (p.Val1404Met) http://identifiers.org/clinvar/43000 ^@ NM_000257.3(MYH7):c.4212G>T (p.Val1404=) http://identifiers.org/clinvar/43001 ^@ NM_000257.3(MYH7):c.4239G>A (p.Ser1413=) http://identifiers.org/clinvar/43002 ^@ NM_000257.3(MYH7):c.4256A>G (p.His1419Arg) http://identifiers.org/clinvar/43003 ^@ NM_000257.3(MYH7):c.4258C>T (p.Arg1420Trp) http://identifiers.org/clinvar/43004 ^@ NM_000257.3(MYH7):c.4259G>A (p.Arg1420Gln) http://identifiers.org/clinvar/43005 ^@ NM_000257.3(MYH7):c.4276G>A (p.Glu1426Lys) http://identifiers.org/clinvar/43006 ^@ NM_000257.3(MYH7):c.428G>A (p.Arg143Gln) http://identifiers.org/clinvar/43007 ^@ NM_000257.3(MYH7):c.4293C>T (p.Asp1431=) http://identifiers.org/clinvar/43008 ^@ NM_000257.3(MYH7):c.4330A>G (p.Lys1444Glu) http://identifiers.org/clinvar/43009 ^@ NM_000257.3(MYH7):c.4348G>A (p.Asp1450Asn) http://identifiers.org/clinvar/43010 ^@ NM_000257.3(MYH7):c.4353+10G>A http://identifiers.org/clinvar/43011 ^@ NM_000257.3(MYH7):c.4354-7C>T http://identifiers.org/clinvar/43012 ^@ NM_000257.3(MYH7):c.4377G>T (p.Lys1459Asn) http://identifiers.org/clinvar/43013 ^@ NM_000257.3(MYH7):c.438G>T (p.Lys146Asn) http://identifiers.org/clinvar/43014 ^@ NM_000257.3(MYH7):c.4395G>T (p.Ser1465=) http://identifiers.org/clinvar/43015 ^@ NM_000257.3(MYH7):c.4399C>G (p.Leu1467Val) http://identifiers.org/clinvar/43016 ^@ NM_000257.3(MYH7):c.4408T>C (p.Ser1470Pro) http://identifiers.org/clinvar/43017 ^@ NM_000257.3(MYH7):c.4411C>T (p.Gln1471Ter) http://identifiers.org/clinvar/43018 ^@ NM_000257.3(MYH7):c.4436C>T (p.Thr1479Ile) http://identifiers.org/clinvar/43019 ^@ NM_000257.3(MYH7):c.4452C>T (p.Leu1484=) http://identifiers.org/clinvar/43020 ^@ NM_000257.3(MYH7):c.4472C>G (p.Ser1491Cys) http://identifiers.org/clinvar/43021 ^@ NM_000257.3(MYH7):c.4487A>C (p.Glu1496Ala) http://identifiers.org/clinvar/43022 ^@ NM_000257.3(MYH7):c.4515G>T (p.Leu1505=) http://identifiers.org/clinvar/43023 ^@ NM_000257.3(MYH7):c.4522_4524delGAG (p.Glu1508del) http://identifiers.org/clinvar/43024 ^@ NM_000257.3(MYH7):c.4525A>C (p.Ile1509Leu) http://identifiers.org/clinvar/43025 ^@ NM_000257.3(MYH7):c.4537A>T (p.Thr1513Ser) http://identifiers.org/clinvar/43026 ^@ NM_000257.3(MYH7):c.4540G>A (p.Glu1514Lys) http://identifiers.org/clinvar/43027 ^@ NM_000257.3(MYH7):c.4566T>C (p.Thr1522=) http://identifiers.org/clinvar/43028 ^@ NM_000257.3(MYH7):c.457delC (p.His153Thrfs) http://identifiers.org/clinvar/43029 ^@ NM_000257.3(MYH7):c.4588C>T (p.Arg1530Ter) http://identifiers.org/clinvar/43030 ^@ NM_000257.3(MYH7):c.4644+3G>A http://identifiers.org/clinvar/43031 ^@ NM_000257.3(MYH7):c.4671G>A (p.Lys1557=) http://identifiers.org/clinvar/43032 ^@ NM_000257.3(MYH7):c.4716C>T (p.Ile1572=) http://identifiers.org/clinvar/43033 ^@ NM_000257.3(MYH7):c.4720C>T (p.Arg1574Trp) http://identifiers.org/clinvar/43034 ^@ NM_000257.3(MYH7):c.474C>T (p.Ser158=) http://identifiers.org/clinvar/43035 ^@ NM_000257.3(MYH7):c.4788G>A (p.Ser1596=) http://identifiers.org/clinvar/43036 ^@ NM_000257.3(MYH7):c.4803G>A (p.Leu1601=) http://identifiers.org/clinvar/43037 ^@ NM_000257.3(MYH7):c.4806C>T (p.Asp1602=) http://identifiers.org/clinvar/43038 ^@ NM_000257.3(MYH7):c.480C>T (p.Asn160=) http://identifiers.org/clinvar/43039 ^@ NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) http://identifiers.org/clinvar/43040 ^@ NM_000257.3(MYH7):c.4834C>G (p.Leu1612Val) http://identifiers.org/clinvar/43041 ^@ NM_000257.3(MYH7):c.4838G>A (p.Arg1613Lys) http://identifiers.org/clinvar/43042 ^@ NM_000257.3(MYH7):c.4864C>T (p.Leu1622Phe) http://identifiers.org/clinvar/43043 ^@ NM_000257.3(MYH7):c.4900C>T (p.Arg1634Cys) http://identifiers.org/clinvar/43044 ^@ NM_000257.3(MYH7):c.4909G>A (p.Ala1637Thr) http://identifiers.org/clinvar/43045 ^@ NM_000257.3(MYH7):c.4911C>T (p.Ala1637=) http://identifiers.org/clinvar/43046 ^@ NM_000257.3(MYH7):c.4953+13A>T http://identifiers.org/clinvar/43047 ^@ NM_000257.3(MYH7):c.4954G>T (p.Asp1652Tyr) http://identifiers.org/clinvar/43048 ^@ NM_000257.3(MYH7):c.4974C>T (p.Asp1658=) http://identifiers.org/clinvar/43049 ^@ NM_000257.3(MYH7):c.4985G>A (p.Arg1662His) http://identifiers.org/clinvar/43050 ^@ NM_000257.3(MYH7):c.49C>T (p.Arg17Cys) http://identifiers.org/clinvar/43051 ^@ NM_000257.3(MYH7):c.5015_5020delCCATCG (p.Ala1672_Ile1673del) http://identifiers.org/clinvar/43052 ^@ NM_000257.3(MYH7):c.5020G>A (p.Val1674Met) http://identifiers.org/clinvar/43053 ^@ NM_000257.3(MYH7):c.503-5C>T http://identifiers.org/clinvar/43054 ^@ NM_000257.3(MYH7):c.506G>A (p.Arg169Lys) http://identifiers.org/clinvar/43055 ^@ NM_000257.3(MYH7):c.507A>T (p.Arg169Ser) http://identifiers.org/clinvar/43056 ^@ NM_000257.3(MYH7):c.5106G>A (p.Ala1702=) http://identifiers.org/clinvar/43057 ^@ NM_000257.3(MYH7):c.5115G>A (p.Glu1705=) http://identifiers.org/clinvar/43058 ^@ NM_000257.3(MYH7):c.5192A>T (p.Asp1731Val) http://identifiers.org/clinvar/43059 ^@ NM_000257.3(MYH7):c.5302G>A (p.Glu1768Lys) http://identifiers.org/clinvar/43060 ^@ NM_000257.3(MYH7):c.531-3_531delCAGC http://identifiers.org/clinvar/43061 ^@ NM_000257.3(MYH7):c.531-5C>T http://identifiers.org/clinvar/43062 ^@ NM_000257.3(MYH7):c.5332C>T (p.His1778Tyr) http://identifiers.org/clinvar/43063 ^@ NM_000257.3(MYH7):c.5341C>T (p.Arg1781Cys) http://identifiers.org/clinvar/43064 ^@ NM_000257.3(MYH7):c.5342G>A (p.Arg1781His) http://identifiers.org/clinvar/43065 ^@ NM_000257.3(MYH7):c.5361A>G (p.Glu1787=) http://identifiers.org/clinvar/43066 ^@ NM_000257.3(MYH7):c.5380C>A (p.Gln1794Lys) http://identifiers.org/clinvar/43067 ^@ NM_000257.3(MYH7):c.5380C>G (p.Gln1794Glu) http://identifiers.org/clinvar/43068 ^@ NM_000257.3(MYH7):c.5397A>G (p.Glu1799=) http://identifiers.org/clinvar/43069 ^@ NM_000257.3(MYH7):c.5401G>A (p.Glu1801Lys) http://identifiers.org/clinvar/43070 ^@ NM_000257.3(MYH7):c.5421C>G (p.Gly1807=) http://identifiers.org/clinvar/43071 ^@ NM_000257.3(MYH7):c.5421C>T (p.Gly1807=) http://identifiers.org/clinvar/43072 ^@ NM_000257.3(MYH7):c.5499C>T (p.Asn1833=) http://identifiers.org/clinvar/43073 ^@ NM_000257.3(MYH7):c.5500G>A (p.Ala1834Thr) http://identifiers.org/clinvar/43074 ^@ NM_000257.3(MYH7):c.5559+8G>A http://identifiers.org/clinvar/43075 ^@ NM_000257.3(MYH7):c.5562G>A (p.Thr1854=) http://identifiers.org/clinvar/43076 ^@ NM_000257.3(MYH7):c.5588G>A (p.Arg1863Gln) http://identifiers.org/clinvar/43077 ^@ NM_000257.3(MYH7):c.560A>G (p.Asn187Ser) http://identifiers.org/clinvar/43078 ^@ NM_000257.3(MYH7):c.5656-4G>C http://identifiers.org/clinvar/43079 ^@ NM_000257.3(MYH7):c.5656-8T>G http://identifiers.org/clinvar/43080 ^@ NM_000257.3(MYH7):c.5660A>G (p.Glu1887Gly) http://identifiers.org/clinvar/43081 ^@ NM_000257.3(MYH7):c.5703C>T (p.His1901=) http://identifiers.org/clinvar/43082 ^@ NM_000257.3(MYH7):c.5704G>C (p.Glu1902Gln) http://identifiers.org/clinvar/43083 ^@ NM_000257.3(MYH7):c.5717C>G (p.Ala1906Gly) http://identifiers.org/clinvar/43084 ^@ NM_000257.3(MYH7):c.5718A>C (p.Ala1906=) http://identifiers.org/clinvar/43085 ^@ NM_000257.3(MYH7):c.5726G>C (p.Arg1909Pro) http://identifiers.org/clinvar/43086 ^@ NM_000257.3(MYH7):c.5736C>T (p.Ile1912=) http://identifiers.org/clinvar/43087 ^@ NM_000257.3(MYH7):c.5739C>T (p.Ala1913=) http://identifiers.org/clinvar/43088 ^@ NM_000257.3(MYH7):c.5740G>A (p.Glu1914Lys) http://identifiers.org/clinvar/43089 ^@ NM_000257.3(MYH7):c.5749G>T (p.Val1917Phe) http://identifiers.org/clinvar/43090 ^@ NM_000257.3(MYH7):c.5762G>A (p.Arg1921Gln) http://identifiers.org/clinvar/43091 ^@ NM_000257.3(MYH7):c.5787G>A (p.Thr1929=) http://identifiers.org/clinvar/43092 ^@ NM_000257.3(MYH7):c.597A>G (p.Ala199=) http://identifiers.org/clinvar/43093 ^@ NM_000257.3(MYH7):c.602T>C (p.Ile201Thr) http://identifiers.org/clinvar/43094 ^@ NM_000257.3(MYH7):c.610C>A (p.Arg204Ser) http://identifiers.org/clinvar/43095 ^@ NM_000257.3(MYH7):c.611G>A (p.Arg204His) http://identifiers.org/clinvar/43096 ^@ NM_000257.3(MYH7):c.706G>A (p.Val236Ile) http://identifiers.org/clinvar/43097 ^@ NM_000257.3(MYH7):c.707T>C (p.Val236Ala) http://identifiers.org/clinvar/43098 ^@ NM_000257.3(MYH7):c.709C>T (p.Arg237Trp) http://identifiers.org/clinvar/43099 ^@ NM_000257.3(MYH7):c.710G>A (p.Arg237Gln) http://identifiers.org/clinvar/43100 ^@ NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) http://identifiers.org/clinvar/43101 ^@ NM_000257.3(MYH7):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/43102 ^@ NM_000257.3(MYH7):c.732+1delG http://identifiers.org/clinvar/43103 ^@ NM_000257.3(MYH7):c.732C>T (p.Phe244=) http://identifiers.org/clinvar/43104 ^@ NM_000257.3(MYH7):c.734G>A (p.Gly245Glu) http://identifiers.org/clinvar/43105 ^@ NM_000257.3(MYH7):c.748A>G (p.Ile250Val) http://identifiers.org/clinvar/43106 ^@ NM_000257.3(MYH7):c.788T>C (p.Ile263Thr) http://identifiers.org/clinvar/43107 ^@ NM_000257.3(MYH7):c.796+7G>A http://identifiers.org/clinvar/43108 ^@ NM_000257.3(MYH7):c.835G>A (p.Ala279Thr) http://identifiers.org/clinvar/43109 ^@ NM_000257.3(MYH7):c.844G>T (p.Asp282Tyr) http://identifiers.org/clinvar/43110 ^@ NM_000257.3(MYH7):c.872C>T (p.Ser291Phe) http://identifiers.org/clinvar/43111 ^@ NM_000257.3(MYH7):c.920C>T (p.Pro307Leu) http://identifiers.org/clinvar/43112 ^@ NM_000257.3(MYH7):c.953C>A (p.Thr318Asn) http://identifiers.org/clinvar/43113 ^@ NM_000257.3(MYH7):c.957C>T (p.Thr319=) http://identifiers.org/clinvar/43114 ^@ NM_000257.3(MYH7):c.968T>A (p.Ile323Asn) http://identifiers.org/clinvar/43115 ^@ NM_000257.3(MYH7):c.968T>C (p.Ile323Thr) http://identifiers.org/clinvar/43116 ^@ NM_000257.3(MYH7):c.975C>T (p.Asp325=) http://identifiers.org/clinvar/43117 ^@ NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) http://identifiers.org/clinvar/43118 ^@ NM_000257.3(MYH7):c.991G>C (p.Ala331Pro) http://identifiers.org/clinvar/43119 ^@ NM_000258.2(MYL3):c.130-14G>T http://identifiers.org/clinvar/43120 ^@ NM_000258.2(MYL3):c.165G>A (p.Lys55=) http://identifiers.org/clinvar/43121 ^@ NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) http://identifiers.org/clinvar/43122 ^@ NM_000258.2(MYL3):c.338C>T (p.Thr113Ile) http://identifiers.org/clinvar/43123 ^@ NM_000258.2(MYL3):c.446T>C (p.Met149Thr) http://identifiers.org/clinvar/43124 ^@ NM_000258.2(MYL3):c.460C>T (p.Arg154Cys) http://identifiers.org/clinvar/43125 ^@ NM_000258.2(MYL3):c.482-14C>A http://identifiers.org/clinvar/43126 ^@ NM_000258.2(MYL3):c.516G>A (p.Leu172=) http://identifiers.org/clinvar/43127 ^@ NM_000258.2(MYL3):c.520G>C (p.Ala174Pro) http://identifiers.org/clinvar/43128 ^@ NM_000258.2(MYL3):c.532G>A (p.Asp178Asn) http://identifiers.org/clinvar/43129 ^@ NM_000258.2(MYL3):c.69C>T (p.Pro23=) http://identifiers.org/clinvar/43130 ^@ NM_000258.2(MYL3):c.81T>C (p.Pro27=) http://identifiers.org/clinvar/43131 ^@ NM_000258.2(MYL3):c.91C>T (p.Arg31Cys) http://identifiers.org/clinvar/43132 ^@ NM_000258.2(MYL3):c.9C>G (p.Pro3=) http://identifiers.org/clinvar/43133 ^@ NM_000260.3(MYO7A):c.1097T>C (p.Leu366Pro) http://identifiers.org/clinvar/43134 ^@ NM_000260.3(MYO7A):c.1007G>A (p.Arg336His) http://identifiers.org/clinvar/43135 ^@ NM_000260.3(MYO7A):c.1132C>T (p.Arg378Cys) http://identifiers.org/clinvar/43136 ^@ NM_000260.3(MYO7A):c.1133G>A (p.Arg378His) http://identifiers.org/clinvar/43137 ^@ NM_000260.3(MYO7A):c.1133G>C (p.Arg378Pro) http://identifiers.org/clinvar/43138 ^@ NM_000260.3(MYO7A):c.1200+1G>A http://identifiers.org/clinvar/43139 ^@ NM_000260.3(MYO7A):c.1232T>C (p.Val411Ala) http://identifiers.org/clinvar/43140 ^@ NM_000260.3(MYO7A):c.132+5G>A http://identifiers.org/clinvar/43141 ^@ NM_000260.3(MYO7A):c.133-7C>T http://identifiers.org/clinvar/43142 ^@ NM_000260.3(MYO7A):c.1343+8G>A http://identifiers.org/clinvar/43143 ^@ NM_000260.3(MYO7A):c.1344-2A>G http://identifiers.org/clinvar/43144 ^@ NM_000260.3(MYO7A):c.1370C>T (p.Ala457Val) http://identifiers.org/clinvar/43145 ^@ NM_000260.3(MYO7A):c.1401_1403dupGCA (p.Arg467_His468insGln) http://identifiers.org/clinvar/43146 ^@ NM_000260.3(MYO7A):c.141G>A (p.Trp47Ter) http://identifiers.org/clinvar/43147 ^@ NM_000260.3(MYO7A):c.1422G>A (p.Gln474=) http://identifiers.org/clinvar/43148 ^@ NM_000260.3(MYO7A):c.1455G>A (p.Leu485=) http://identifiers.org/clinvar/43149 ^@ NM_000260.3(MYO7A):c.1496T>C (p.Ile499Thr) http://identifiers.org/clinvar/43150 ^@ NM_000260.3(MYO7A):c.1554+8G>A http://identifiers.org/clinvar/43151 ^@ NM_000260.3(MYO7A):c.1556G>A (p.Gly519Asp) http://identifiers.org/clinvar/43152 ^@ NM_000260.3(MYO7A):c.1556delG (p.Gly519Alafs) http://identifiers.org/clinvar/43153 ^@ NM_000260.3(MYO7A):c.1605C>T (p.Asn535=) http://identifiers.org/clinvar/43154 ^@ NM_000260.3(MYO7A):c.1606G>A (p.Ala536Thr) http://identifiers.org/clinvar/43155 ^@ NM_000260.3(MYO7A):c.1690+1G>A http://identifiers.org/clinvar/43156 ^@ NM_000260.3(MYO7A):c.1721A>C (p.His574Pro) http://identifiers.org/clinvar/43157 ^@ NM_000260.3(MYO7A):c.1821G>A (p.Ser607=) http://identifiers.org/clinvar/43158 ^@ NM_000260.3(MYO7A):c.182C>G (p.Pro61Arg) http://identifiers.org/clinvar/43159 ^@ NM_000260.3(MYO7A):c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer) http://identifiers.org/clinvar/43160 ^@ NM_000260.3(MYO7A):c.1846C>T (p.Arg616Trp) http://identifiers.org/clinvar/43161 ^@ NM_000260.3(MYO7A):c.1854G>A (p.Leu618=) http://identifiers.org/clinvar/43162 ^@ NM_000260.3(MYO7A):c.1868G>A (p.Arg623His) http://identifiers.org/clinvar/43163 ^@ NM_000260.3(MYO7A):c.19-1G>A http://identifiers.org/clinvar/43164 ^@ NM_000260.3(MYO7A):c.1900C>T (p.Arg634Ter) http://identifiers.org/clinvar/43165 ^@ NM_000260.3(MYO7A):c.1952_1953insAG (p.Cys652Glyfs) http://identifiers.org/clinvar/43166 ^@ NM_000260.3(MYO7A):c.1956C>T (p.Cys652=) http://identifiers.org/clinvar/43167 ^@ NM_000260.3(MYO7A):c.1963C>T (p.Gln655Ter) http://identifiers.org/clinvar/43168 ^@ NM_000260.3(MYO7A):c.2002C>T (p.Arg668Cys) http://identifiers.org/clinvar/43169 ^@ NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) http://identifiers.org/clinvar/43170 ^@ NM_000260.3(MYO7A):c.2035G>A (p.Val679Ile) http://identifiers.org/clinvar/43171 ^@ NM_000260.3(MYO7A):c.2094+1G>A http://identifiers.org/clinvar/43172 ^@ NM_000260.3(MYO7A):c.2094+1G>C http://identifiers.org/clinvar/43173 ^@ NM_000260.3(MYO7A):c.2122A>G (p.Met708Val) http://identifiers.org/clinvar/43174 ^@ NM_000260.3(MYO7A):c.2172delC (p.Lys725Argfs) http://identifiers.org/clinvar/43175 ^@ NM_000260.3(MYO7A):c.2187+1G>A http://identifiers.org/clinvar/43176 ^@ NM_000260.3(MYO7A):c.2218C>T (p.Arg740Trp) http://identifiers.org/clinvar/43177 ^@ NM_000260.3(MYO7A):c.2236G>A (p.Asp746Asn) http://identifiers.org/clinvar/43178 ^@ NM_000260.3(MYO7A):c.2283-1G>T (p.Ser762CysfsTer61) http://identifiers.org/clinvar/43179 ^@ NM_000260.3(MYO7A):c.2283G>A (p.Arg761=) http://identifiers.org/clinvar/43180 ^@ NM_000260.3(MYO7A):c.2293C>A (p.Leu765Met) http://identifiers.org/clinvar/43181 ^@ NM_000260.3(MYO7A):c.2386C>G (p.Arg796Gly) http://identifiers.org/clinvar/43182 ^@ NM_000260.3(MYO7A):c.2387G>A (p.Arg796Gln) http://identifiers.org/clinvar/43183 ^@ NM_000260.3(MYO7A):c.2447G>A (p.Arg816His) http://identifiers.org/clinvar/43184 ^@ NM_000260.3(MYO7A):c.2522T>C (p.Leu841Pro) http://identifiers.org/clinvar/43185 ^@ NM_000260.3(MYO7A):c.2527G>A (p.Val843Met) http://identifiers.org/clinvar/43186 ^@ NM_000260.3(MYO7A):c.2558G>A (p.Arg853His) http://identifiers.org/clinvar/43187 ^@ NM_000260.3(MYO7A):c.2617C>T (p.Arg873Trp) http://identifiers.org/clinvar/43188 ^@ NM_000260.3(MYO7A):c.2754C>T (p.Ala918=) http://identifiers.org/clinvar/43189 ^@ NM_000260.3(MYO7A):c.2618G>A (p.Arg873Gln) http://identifiers.org/clinvar/43190 ^@ NM_000260.3(MYO7A):c.2724C>T (p.Asp908=) http://identifiers.org/clinvar/43191 ^@ NM_000260.3(MYO7A):c.2850G>A (p.Leu950=) http://identifiers.org/clinvar/43192 ^@ NM_000260.3(MYO7A):c.286-5C>T http://identifiers.org/clinvar/43193 ^@ NM_000260.3(MYO7A):c.2882G>A (p.Gly961Asp) http://identifiers.org/clinvar/43194 ^@ NM_000260.3(MYO7A):c.2886G>C (p.Gln962His) http://identifiers.org/clinvar/43195 ^@ NM_000260.3(MYO7A):c.288G>A (p.Thr96=) http://identifiers.org/clinvar/43196 ^@ NM_000260.3(MYO7A):c.2904G>T (p.Glu968Asp) http://identifiers.org/clinvar/43197 ^@ NM_000260.3(MYO7A):c.2960C>T (p.Pro987Leu) http://identifiers.org/clinvar/43198 ^@ NM_000260.3(MYO7A):c.3036A>G (p.Thr1012=) http://identifiers.org/clinvar/43199 ^@ NM_000260.3(MYO7A):c.3042G>T (p.Thr1014=) http://identifiers.org/clinvar/43200 ^@ NM_000260.3(MYO7A):c.3246G>A (p.Thr1082=) http://identifiers.org/clinvar/43201 ^@ NM_000260.3(MYO7A):c.324C>T (p.Tyr108=) http://identifiers.org/clinvar/43202 ^@ NM_000260.3(MYO7A):c.3327delC (p.His1109Glnfs) http://identifiers.org/clinvar/43203 ^@ NM_000260.3(MYO7A):c.3375+3G>A http://identifiers.org/clinvar/43204 ^@ NM_000260.3(MYO7A):c.3469A>G (p.Ile1157Val) http://identifiers.org/clinvar/43205 ^@ NM_000260.3(MYO7A):c.3404C>A (p.Ser1135Tyr) http://identifiers.org/clinvar/43206 ^@ NM_000260.3(MYO7A):c.3476G>T (p.Gly1159Val) http://identifiers.org/clinvar/43207 ^@ NM_000260.3(MYO7A):c.3503+12_3503+33delGAGGCGGGGACACCAGGGCCTG http://identifiers.org/clinvar/43208 ^@ NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys) http://identifiers.org/clinvar/43209 ^@ NM_000260.3(MYO7A):c.3532delC (p.Gln1178Serfs) http://identifiers.org/clinvar/43210 ^@ NM_000260.3(MYO7A):c.3533A>C (p.Gln1178Pro) http://identifiers.org/clinvar/43211 ^@ NM_000260.3(MYO7A):c.3543_3544dupCA (p.Asn1182Thrfs) http://identifiers.org/clinvar/43212 ^@ NM_000260.3(MYO7A):c.3572G>A (p.Gly1191Asp) http://identifiers.org/clinvar/43213 ^@ NM_000260.3(MYO7A):c.358C>A (p.Arg120Ser) http://identifiers.org/clinvar/43214 ^@ NM_000260.3(MYO7A):c.359G>A (p.Arg120His) http://identifiers.org/clinvar/43215 ^@ NM_000260.3(MYO7A):c.3602G>C (p.Cys1201Ser) http://identifiers.org/clinvar/43216 ^@ NM_000260.3(MYO7A):c.3652G>A (p.Gly1218Arg) http://identifiers.org/clinvar/43217 ^@ NM_000260.3(MYO7A):c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs) http://identifiers.org/clinvar/43218 ^@ NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) http://identifiers.org/clinvar/43219 ^@ NM_000260.3(MYO7A):c.3728dupC (p.Pro1244Alafs) http://identifiers.org/clinvar/43220 ^@ NM_000260.3(MYO7A):c.3750+5G>A http://identifiers.org/clinvar/43221 ^@ NM_000260.3(MYO7A):c.3750+7G>A http://identifiers.org/clinvar/43222 ^@ NM_000260.3(MYO7A):c.3750+9G>A http://identifiers.org/clinvar/43223 ^@ NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs) http://identifiers.org/clinvar/43224 ^@ NM_000260.3(MYO7A):c.380T>C (p.Ile127Thr) http://identifiers.org/clinvar/43225 ^@ NM_000260.3(MYO7A):c.3828G>A (p.Ser1276=) http://identifiers.org/clinvar/43226 ^@ NM_000260.3(MYO7A):c.3924+12C>T http://identifiers.org/clinvar/43227 ^@ NM_000260.3(MYO7A):c.3978C>T (p.Cys1326=) http://identifiers.org/clinvar/43228 ^@ NM_000260.3(MYO7A):c.397C>T (p.His133Tyr) http://identifiers.org/clinvar/43229 ^@ NM_000260.3(MYO7A):c.397dupC (p.His133Profs) http://identifiers.org/clinvar/43230 ^@ NM_000260.3(MYO7A):c.401T>A (p.Ile134Asn) http://identifiers.org/clinvar/43231 ^@ NM_000260.3(MYO7A):c.4023C>T (p.Pro1341=) http://identifiers.org/clinvar/43232 ^@ NM_000260.3(MYO7A):c.4065delC (p.His1355Glnfs) http://identifiers.org/clinvar/43233 ^@ NM_000260.3(MYO7A):c.4074C>T (p.Ser1358=) http://identifiers.org/clinvar/43234 ^@ NM_000260.3(MYO7A):c.4153-10C>G http://identifiers.org/clinvar/43235 ^@ NM_000260.3(MYO7A):c.4251C>T (p.Ile1417=) http://identifiers.org/clinvar/43236 ^@ NM_000260.3(MYO7A):c.4293G>A (p.Trp1431Ter) http://identifiers.org/clinvar/43237 ^@ NM_000260.3(MYO7A):c.4360G>A (p.Val1454Ile) http://identifiers.org/clinvar/43238 ^@ NM_000260.3(MYO7A):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/43239 ^@ NM_000260.3(MYO7A):c.4411T>C (p.Ser1471Pro) http://identifiers.org/clinvar/43240 ^@ NM_000260.3(MYO7A):c.4442-2A>C http://identifiers.org/clinvar/43241 ^@ NM_000260.3(MYO7A):c.4450C>T (p.Leu1484Phe) http://identifiers.org/clinvar/43242 ^@ NM_000260.3(MYO7A):c.4461C>T (p.Asn1487=) http://identifiers.org/clinvar/43243 ^@ NM_000260.3(MYO7A):c.4471G>A (p.Val1491Met) http://identifiers.org/clinvar/43244 ^@ NM_000260.3(MYO7A):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/43245 ^@ NM_000260.3(MYO7A):c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla) http://identifiers.org/clinvar/43246 ^@ NM_000260.3(MYO7A):c.4568+12C>G http://identifiers.org/clinvar/43247 ^@ NM_000260.3(MYO7A):c.4577G>A (p.Arg1526His) http://identifiers.org/clinvar/43248 ^@ NM_000260.3(MYO7A):c.4589C>T (p.Ser1530Leu) http://identifiers.org/clinvar/43249 ^@ NM_000260.3(MYO7A):c.458G>A (p.Cys153Tyr) http://identifiers.org/clinvar/43250 ^@ NM_000260.3(MYO7A):c.4619C>T (p.Ala1540Val) http://identifiers.org/clinvar/43251 ^@ NM_000260.3(MYO7A):c.4620G>A (p.Ala1540=) http://identifiers.org/clinvar/43252 ^@ NM_000260.3(MYO7A):c.468C>T (p.Ile156=) http://identifiers.org/clinvar/43253 ^@ NM_000260.3(MYO7A):c.4695G>A (p.Thr1565=) http://identifiers.org/clinvar/43254 ^@ NM_000260.3(MYO7A):c.4697C>T (p.Thr1566Met) http://identifiers.org/clinvar/43255 ^@ NM_000260.3(MYO7A):c.4698G>A (p.Thr1566=) http://identifiers.org/clinvar/43256 ^@ NM_000260.3(MYO7A):c.4739A>G (p.Tyr1580Cys) http://identifiers.org/clinvar/43257 ^@ NM_000260.3(MYO7A):c.4755C>T (p.Ser1585=) http://identifiers.org/clinvar/43258 ^@ NM_000260.3(MYO7A):c.47T>C (p.Leu16Ser) http://identifiers.org/clinvar/43259 ^@ NM_000260.3(MYO7A):c.4800G>T (p.Gly1600=) http://identifiers.org/clinvar/43260 ^@ NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln) http://identifiers.org/clinvar/43261 ^@ NM_000260.3(MYO7A):c.4821T>A (p.Tyr1607Ter) http://identifiers.org/clinvar/43262 ^@ NM_000260.3(MYO7A):c.484G>A (p.Ala162Thr) http://identifiers.org/clinvar/43263 ^@ NM_000260.3(MYO7A):c.4910A>G (p.His1637Arg) http://identifiers.org/clinvar/43264 ^@ NM_000260.3(MYO7A):c.494C>T (p.Thr165Met) http://identifiers.org/clinvar/43265 ^@ NM_000260.3(MYO7A):c.4950C>T (p.Asn1650=) http://identifiers.org/clinvar/43266 ^@ NM_000260.3(MYO7A):c.496delG (p.Glu166Argfs) http://identifiers.org/clinvar/43267 ^@ NM_000260.3(MYO7A):c.4983C>T (p.Asp1661=) http://identifiers.org/clinvar/43268 ^@ NM_000260.3(MYO7A):c.4992C>T (p.Thr1664=) http://identifiers.org/clinvar/43269 ^@ NM_000260.3(MYO7A):c.4996A>T (p.Ser1666Cys) http://identifiers.org/clinvar/43270 ^@ NM_000260.3(MYO7A):c.5101C>T (p.Arg1701Ter) http://identifiers.org/clinvar/43271 ^@ NM_000260.3(MYO7A):c.5108C>T (p.Ala1703Val) http://identifiers.org/clinvar/43272 ^@ NM_000260.3(MYO7A):c.510G>A (p.Leu170=) http://identifiers.org/clinvar/43273 ^@ NM_000260.3(MYO7A):c.5115C>T (p.Pro1705=) http://identifiers.org/clinvar/43274 ^@ NM_000260.3(MYO7A):c.5156A>G (p.Tyr1719Cys) http://identifiers.org/clinvar/43275 ^@ NM_000260.3(MYO7A):c.5208dupC (p.Lys1737Glnfs) http://identifiers.org/clinvar/43276 ^@ NM_000260.3(MYO7A):c.5215C>A (p.Arg1739=) http://identifiers.org/clinvar/43277 ^@ NM_000260.3(MYO7A):c.5259G>A (p.Lys1753=) http://identifiers.org/clinvar/43278 ^@ NM_000260.3(MYO7A):c.5227C>T (p.Arg1743Trp) http://identifiers.org/clinvar/43279 ^@ NM_000260.3(MYO7A):c.5326+13C>T http://identifiers.org/clinvar/43280 ^@ NM_000260.3(MYO7A):c.5327-11A>G http://identifiers.org/clinvar/43281 ^@ NM_000260.3(MYO7A):c.5355G>A (p.Pro1785=) http://identifiers.org/clinvar/43282 ^@ NM_000260.3(MYO7A):c.5392C>T (p.Gln1798Ter) http://identifiers.org/clinvar/43283 ^@ NM_000260.3(MYO7A):c.5481-14G>A http://identifiers.org/clinvar/43284 ^@ NM_000260.3(MYO7A):c.5487C>T (p.Ser1829=) http://identifiers.org/clinvar/43285 ^@ NM_000260.3(MYO7A):c.5528T>G (p.Leu1843Arg) http://identifiers.org/clinvar/43286 ^@ NM_000260.3(MYO7A):c.5559C>T (p.His1853=) http://identifiers.org/clinvar/43287 ^@ NM_000260.3(MYO7A):c.5598C>A (p.Leu1866=) http://identifiers.org/clinvar/43288 ^@ NM_000260.3(MYO7A):c.5573T>C (p.Leu1858Pro) http://identifiers.org/clinvar/43289 ^@ NM_000260.3(MYO7A):c.5581dupC (p.Arg1861Profs) http://identifiers.org/clinvar/43290 ^@ NM_000260.3(MYO7A):c.5598C>T (p.Leu1866=) http://identifiers.org/clinvar/43291 ^@ NM_000260.3(MYO7A):c.5617C>T (p.Arg1873Trp) http://identifiers.org/clinvar/43292 ^@ NM_000260.3(MYO7A):c.5618G>A (p.Arg1873Gln) http://identifiers.org/clinvar/43293 ^@ NM_000260.3(MYO7A):c.5619G>A (p.Arg1873=) http://identifiers.org/clinvar/43294 ^@ NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln) http://identifiers.org/clinvar/43295 ^@ NM_000260.3(MYO7A):c.5660C>T (p.Pro1887Leu) http://identifiers.org/clinvar/43296 ^@ NM_000260.3(MYO7A):c.5715A>G (p.Lys1905=) http://identifiers.org/clinvar/43297 ^@ NM_000260.3(MYO7A):c.5743-12T>C http://identifiers.org/clinvar/43298 ^@ NM_000260.3(MYO7A):c.5804T>C (p.Leu1935Pro) http://identifiers.org/clinvar/43299 ^@ NM_000260.3(MYO7A):c.5824G>A (p.Gly1942Arg) http://identifiers.org/clinvar/43300 ^@ NM_000260.3(MYO7A):c.5824G>T (p.Gly1942Ter) http://identifiers.org/clinvar/43301 ^@ NM_000260.3(MYO7A):c.582delC (p.Ile195Phefs) http://identifiers.org/clinvar/43302 ^@ NM_000260.3(MYO7A):c.5835C>T (p.Leu1945=) http://identifiers.org/clinvar/43303 ^@ NM_000260.3(MYO7A):c.5857-7A>T http://identifiers.org/clinvar/43304 ^@ NM_000260.3(MYO7A):c.5860C>A (p.Leu1954Ile) http://identifiers.org/clinvar/43305 ^@ NM_000260.3(MYO7A):c.5866G>A (p.Val1956Ile) http://identifiers.org/clinvar/43306 ^@ NM_000260.3(MYO7A):c.587T>C (p.Leu196Pro) http://identifiers.org/clinvar/43307 ^@ NM_000260.3(MYO7A):c.593-5C>T http://identifiers.org/clinvar/43308 ^@ NM_000260.3(MYO7A):c.5886_5888delCTT (p.Phe1963del) http://identifiers.org/clinvar/43309 ^@ NM_000260.3(MYO7A):c.5904C>T (p.His1968=) http://identifiers.org/clinvar/43310 ^@ NM_000260.3(MYO7A):c.5945G>A (p.Gly1982Glu) http://identifiers.org/clinvar/43311 ^@ NM_000260.3(MYO7A):c.6013A>G (p.Lys2005Glu) http://identifiers.org/clinvar/43312 ^@ NM_000260.3(MYO7A):c.6025G>A (p.Ala2009Thr) http://identifiers.org/clinvar/43313 ^@ NM_000260.3(MYO7A):c.6025delG (p.Ala2009Profs) http://identifiers.org/clinvar/43314 ^@ NM_000260.3(MYO7A):c.6029A>G (p.Asp2010Gly) http://identifiers.org/clinvar/43315 ^@ NM_000260.3(MYO7A):c.6051+17T>A http://identifiers.org/clinvar/43316 ^@ NM_000260.3(MYO7A):c.6052-11G>C http://identifiers.org/clinvar/43317 ^@ NM_000260.3(MYO7A):c.6063G>A (p.Lys2021=) http://identifiers.org/clinvar/43318 ^@ NM_000260.3(MYO7A):c.6070C>T (p.Arg2024Ter) http://identifiers.org/clinvar/43319 ^@ NM_000260.3(MYO7A):c.6165C>T (p.Ser2055=) http://identifiers.org/clinvar/43320 ^@ NM_000260.3(MYO7A):c.6173A>G (p.Lys2058Arg) http://identifiers.org/clinvar/43321 ^@ NM_000260.3(MYO7A):c.6209G>A (p.Arg2070Gln) http://identifiers.org/clinvar/43322 ^@ NM_000260.3(MYO7A):c.6214G>A (p.Val2072Ile) http://identifiers.org/clinvar/43323 ^@ NM_000260.3(MYO7A):c.6240C>T (p.Ser2080=) http://identifiers.org/clinvar/43324 ^@ NM_000260.3(MYO7A):c.6318G>A (p.Lys2106=) http://identifiers.org/clinvar/43325 ^@ NM_000260.3(MYO7A):c.631A>G (p.Ser211Gly) http://identifiers.org/clinvar/43326 ^@ NM_000260.3(MYO7A):c.6345C>T (p.Phe2115=) http://identifiers.org/clinvar/43327 ^@ NM_000260.3(MYO7A):c.640G>A (p.Gly214Arg) http://identifiers.org/clinvar/43328 ^@ NM_000260.3(MYO7A):c.6424G>A (p.Asp2142Asn) http://identifiers.org/clinvar/43329 ^@ NM_000260.3(MYO7A):c.6439-2A>G http://identifiers.org/clinvar/43330 ^@ NM_000260.3(MYO7A):c.6498C>A (p.Tyr2166Ter) http://identifiers.org/clinvar/43331 ^@ NM_000260.3(MYO7A):c.6519C>T (p.Asn2173=) http://identifiers.org/clinvar/43332 ^@ NM_000260.3(MYO7A):c.6558+16G>A http://identifiers.org/clinvar/43333 ^@ NM_000260.3(MYO7A):c.6558+9G>A http://identifiers.org/clinvar/43334 ^@ NM_000260.3(MYO7A):c.6559-11C>T http://identifiers.org/clinvar/43335 ^@ NM_000260.3(MYO7A):c.6560G>A (p.Gly2187Asp) http://identifiers.org/clinvar/43336 ^@ NM_000260.3(MYO7A):c.6570G>A (p.Met2190Ile) http://identifiers.org/clinvar/43337 ^@ NM_000260.3(MYO7A):c.6577C>T (p.Leu2193Phe) http://identifiers.org/clinvar/43338 ^@ NM_000260.3(MYO7A):c.6640G>A (p.Gly2214Ser) http://identifiers.org/clinvar/43339 ^@ NM_000260.3(MYO7A):c.687C>T (p.Gly229=) http://identifiers.org/clinvar/43340 ^@ NM_000260.3(MYO7A):c.722G>A (p.Arg241His) http://identifiers.org/clinvar/43341 ^@ NM_000260.3(MYO7A):c.72C>T (p.Ile24=) http://identifiers.org/clinvar/43342 ^@ NM_000260.3(MYO7A):c.736-15_736-4dup http://identifiers.org/clinvar/43343 ^@ NM_000260.3(MYO7A):c.783T>C (p.Gly261=) http://identifiers.org/clinvar/43344 ^@ NM_000260.3(MYO7A):c.93C>T (p.Cys31=) http://identifiers.org/clinvar/43345 ^@ NM_000260.3(MYO7A):c.999T>G (p.Tyr333Ter) http://identifiers.org/clinvar/43346 ^@ NM_000307.4(POU3F4):c.341G>A (p.Trp114Ter) http://identifiers.org/clinvar/43347 ^@ NM_000307.4(POU3F4):c.499C>T (p.Arg167Ter) http://identifiers.org/clinvar/43348 ^@ NM_000307.4(POU3F4):c.506C>T (p.Pro169Leu) http://identifiers.org/clinvar/43349 ^@ NM_000307.4(POU3F4):c.710C= (p.Ala237=) http://identifiers.org/clinvar/43350 ^@ NM_000307.4(POU3F4):c.695T>C (p.Ile232Thr) http://identifiers.org/clinvar/43351 ^@ NM_000307.4(POU3F4):c.708G= (p.Glu236=) http://identifiers.org/clinvar/43352 ^@ NM_000307.4(POU3F4):c.853_854delAT (p.Ile285Argfs) http://identifiers.org/clinvar/43353 ^@ NM_000307.4(POU3F4):c.927_929delCTC (p.Ser310del) http://identifiers.org/clinvar/43354 ^@ NM_000307.4(POU3F4):c.964G>A (p.Val322Met) http://identifiers.org/clinvar/43355 ^@ NM_000337.5(SGCD):c.*2A>C http://identifiers.org/clinvar/43356 ^@ NM_000337.5(SGCD):c.731C>T (p.Pro244Leu) http://identifiers.org/clinvar/43357 ^@ NM_000337.5(SGCD):c.839C>A (p.Ser280Tyr) http://identifiers.org/clinvar/43358 ^@ NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) http://identifiers.org/clinvar/43359 ^@ NM_000363.4(TNNI3):c.105C>A (p.Ala35=) http://identifiers.org/clinvar/43360 ^@ NM_000363.4(TNNI3):c.12-1G>T http://identifiers.org/clinvar/43361 ^@ NM_000363.4(TNNI3):c.12-7delC http://identifiers.org/clinvar/43362 ^@ NM_000363.4(TNNI3):c.150+13G>A http://identifiers.org/clinvar/43363 ^@ NM_000363.4(TNNI3):c.151-6C>G http://identifiers.org/clinvar/43364 ^@ NM_000363.4(TNNI3):c.198G>A (p.Glu66=) http://identifiers.org/clinvar/43365 ^@ NM_000363.4(TNNI3):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/43366 ^@ NM_000363.4(TNNI3):c.204G>T (p.Arg68=) http://identifiers.org/clinvar/43367 ^@ NM_000363.4(TNNI3):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/43368 ^@ NM_000363.4(TNNI3):c.236G>T (p.Arg79Leu) http://identifiers.org/clinvar/43369 ^@ NM_000363.4(TNNI3):c.246G>T (p.Pro82=) http://identifiers.org/clinvar/43370 ^@ NM_000363.4(TNNI3):c.25-4C>T http://identifiers.org/clinvar/43371 ^@ NM_000363.4(TNNI3):c.25-8T>A http://identifiers.org/clinvar/43372 ^@ NM_000363.4(TNNI3):c.273G>A (p.Ala91=) http://identifiers.org/clinvar/43373 ^@ NM_000363.4(TNNI3):c.303C>T (p.His101=) http://identifiers.org/clinvar/43374 ^@ NM_000363.4(TNNI3):c.307C>T (p.Arg103Cys) http://identifiers.org/clinvar/43375 ^@ NM_000363.4(TNNI3):c.356C>A (p.Thr119Asn) http://identifiers.org/clinvar/43376 ^@ NM_000363.4(TNNI3):c.368C>T (p.Thr123Met) http://identifiers.org/clinvar/43377 ^@ NM_000363.4(TNNI3):c.373-15C>G http://identifiers.org/clinvar/43378 ^@ NM_000363.4(TNNI3):c.373-4C>G http://identifiers.org/clinvar/43379 ^@ NM_000363.4(TNNI3):c.384G>A (p.Leu128=) http://identifiers.org/clinvar/43380 ^@ NM_000363.4(TNNI3):c.39C>G (p.Arg13=) http://identifiers.org/clinvar/43381 ^@ NM_000363.4(TNNI3):c.422G>A (p.Arg141Gln) http://identifiers.org/clinvar/43382 ^@ NM_000363.4(TNNI3):c.428C>A (p.Thr143Asn) http://identifiers.org/clinvar/43383 ^@ NM_000363.4(TNNI3):c.431T>C (p.Leu144Pro) http://identifiers.org/clinvar/43384 ^@ NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) http://identifiers.org/clinvar/43385 ^@ NM_000363.4(TNNI3):c.462G>A (p.Met154Ile) http://identifiers.org/clinvar/43386 ^@ NM_000363.4(TNNI3):c.532_534delAAG (p.Lys178del) http://identifiers.org/clinvar/43387 ^@ NM_000363.4(TNNI3):c.464T>C (p.Met155Thr) http://identifiers.org/clinvar/43388 ^@ NM_000363.4(TNNI3):c.470C>T (p.Ala157Val) http://identifiers.org/clinvar/43389 ^@ NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) http://identifiers.org/clinvar/43390 ^@ NM_000363.4(TNNI3):c.485G>C (p.Arg162Pro) http://identifiers.org/clinvar/43391 ^@ NM_000363.4(TNNI3):c.537G>A (p.Glu179=) http://identifiers.org/clinvar/43392 ^@ NM_000363.4(TNNI3):c.544G>A (p.Glu182Lys) http://identifiers.org/clinvar/43393 ^@ NM_000363.4(TNNI3):c.550-10C>T http://identifiers.org/clinvar/43394 ^@ NM_000363.4(TNNI3):c.550G>A (p.Glu184Lys) http://identifiers.org/clinvar/43395 ^@ NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln) http://identifiers.org/clinvar/43396 ^@ NM_000363.4(TNNI3):c.579G>C (p.Lys193Asn) http://identifiers.org/clinvar/43397 ^@ NM_000363.4(TNNI3):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/43398 ^@ NM_000363.4(TNNI3):c.65G>A (p.Arg22His) http://identifiers.org/clinvar/43399 ^@ NM_000363.4(TNNI3):c.6G>A (p.Ala2=) http://identifiers.org/clinvar/43400 ^@ NM_000364.3(TNNT2):c.68-5_68-3delinsTT http://identifiers.org/clinvar/43401 ^@ NM_000364.3(TNNT2):c.68-8A>G http://identifiers.org/clinvar/43402 ^@ NM_000364.3(TNNT2):c.97G>A (p.Glu33Lys) http://identifiers.org/clinvar/43403 ^@ NM_001018005.1(TPM1):c.118G>T (p.Glu40Ter) http://identifiers.org/clinvar/43404 ^@ NM_001018005.1(TPM1):c.163G>A (p.Asp55Asn) http://identifiers.org/clinvar/43405 ^@ NM_001018005.1(TPM1):c.180C>T (p.Tyr60=) http://identifiers.org/clinvar/43406 ^@ NM_001018005.1(TPM1):c.23T>G (p.Met8Arg) http://identifiers.org/clinvar/43407 ^@ NM_001018005.1(TPM1):c.241-9T>C http://identifiers.org/clinvar/43408 ^@ NM_001018005.1(TPM1):c.252C>G (p.Asp84Glu) http://identifiers.org/clinvar/43409 ^@ NM_001018005.1(TPM1):c.252C>T (p.Asp84=) http://identifiers.org/clinvar/43410 ^@ NM_001018005.1(TPM1):c.27G>A (p.Gln9=) http://identifiers.org/clinvar/43411 ^@ NM_001018005.1(TPM1):c.2delT (p.Met1Argfs) http://identifiers.org/clinvar/43412 ^@ NM_001018005.1(TPM1):c.305C>A (p.Ala102Asp) http://identifiers.org/clinvar/43413 ^@ NM_001018005.1(TPM1):c.321A>C (p.Ala107=) http://identifiers.org/clinvar/43414 ^@ NM_001018005.1(TPM1):c.337C>G (p.Leu113Val) http://identifiers.org/clinvar/43415 ^@ NM_001018005.1(TPM1):c.341A>G (p.Glu114Gly) http://identifiers.org/clinvar/43416 ^@ NM_001018005.1(TPM1):c.375-5T>C http://identifiers.org/clinvar/43417 ^@ NM_001018005.1(TPM1):c.423G>C (p.Met141Ile) http://identifiers.org/clinvar/43418 ^@ NM_001018005.1(TPM1):c.444G>C (p.Leu148=) http://identifiers.org/clinvar/43419 ^@ NM_001018005.1(TPM1):c.457C>G (p.His153Asp) http://identifiers.org/clinvar/43420 ^@ NM_001018005.1(TPM1):c.475G>A (p.Asp159Asn) http://identifiers.org/clinvar/43421 ^@ NM_001018005.1(TPM1):c.493-6C>T http://identifiers.org/clinvar/43422 ^@ NM_001018005.1(TPM1):c.522C>T (p.Ser174=) http://identifiers.org/clinvar/43423 ^@ NM_001018005.1(TPM1):c.533G>A (p.Arg178His) http://identifiers.org/clinvar/43424 ^@ NM_001018005.1(TPM1):c.548C>T (p.Ala183Val) http://identifiers.org/clinvar/43425 ^@ NM_001018005.1(TPM1):c.549T>C (p.Ala183=) http://identifiers.org/clinvar/43426 ^@ NM_001018005.1(TPM1):c.563+10C>T http://identifiers.org/clinvar/43427 ^@ NM_001018005.1(TPM1):c.563+6C>A http://identifiers.org/clinvar/43428 ^@ NM_001018005.1(TPM1):c.563+249C>T http://identifiers.org/clinvar/43429 ^@ NM_001018005.1(TPM1):c.563+254A>G http://identifiers.org/clinvar/43430 ^@ NM_001018005.1(TPM1):c.563+313A>G http://identifiers.org/clinvar/43431 ^@ NM_001018005.1(TPM1):c.563+348G>T http://identifiers.org/clinvar/43432 ^@ NM_001018005.1(TPM1):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/43433 ^@ NM_001018005.1(TPM1):c.676A>C (p.Lys226Gln) http://identifiers.org/clinvar/43434 ^@ NM_001018005.1(TPM1):c.684T>C (p.Leu228=) http://identifiers.org/clinvar/43435 ^@ NM_001018005.1(TPM1):c.692A>G (p.Lys231Arg) http://identifiers.org/clinvar/43436 ^@ NM_001018005.1(TPM1):c.712C>T (p.Arg238Trp) http://identifiers.org/clinvar/43437 ^@ NM_001018005.1(TPM1):c.725C>T (p.Ala242Val) http://identifiers.org/clinvar/43438 ^@ NM_001018005.1(TPM1):c.726G>A (p.Ala242=) http://identifiers.org/clinvar/43439 ^@ NM_001018005.1(TPM1):c.734C>T (p.Ser245Leu) http://identifiers.org/clinvar/43440 ^@ NM_001018005.1(TPM1):c.775G>A (p.Glu259Lys) http://identifiers.org/clinvar/43441 ^@ NM_001018005.1(TPM1):c.790A>G (p.Lys264Glu) http://identifiers.org/clinvar/43442 ^@ NM_001018005.1(TPM1):c.829G>A (p.Ala277Thr) http://identifiers.org/clinvar/43443 ^@ NM_001018005.1(TPM1):c.82G>A (p.Asp28Asn) http://identifiers.org/clinvar/43444 ^@ NM_001018005.1(TPM1):c.82G>C (p.Asp28His) http://identifiers.org/clinvar/43445 ^@ NM_001018005.1(TPM1):c.830C>G (p.Ala277Gly) http://identifiers.org/clinvar/43446 ^@ NM_000366.5(TPM1):c.835A>C (p.Asn279His) http://identifiers.org/clinvar/43447 ^@ NM_001018005.1(TPM1):c.837C>T (p.Asn279=) http://identifiers.org/clinvar/43448 ^@ NM_001018005.1(TPM1):c.841A>G (p.Met281Val) http://identifiers.org/clinvar/43449 ^@ NM_000366.5(TPM1):c.845C>G (p.Thr282Ser) http://identifiers.org/clinvar/43450 ^@ NM_001018005.1(TPM1):c.91G>A (p.Ala31Thr) http://identifiers.org/clinvar/43451 ^@ NM_001018005.1(TPM1):c.97G>A (p.Glu33Lys) http://identifiers.org/clinvar/43452 ^@ NM_000371.3(TTR):c.*3_*11delGACTTCTCC http://identifiers.org/clinvar/43453 ^@ NM_000371.3(TTR):c.360C>T (p.Ser120=) http://identifiers.org/clinvar/43454 ^@ NM_000371.3(TTR):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/43455 ^@ NM_000371.3(TTR):c.417G>A (p.Thr139=) http://identifiers.org/clinvar/43456 ^@ NM_000371.3(TTR):c.68C>T (p.Thr23Met) http://identifiers.org/clinvar/43457 ^@ NM_000432.3(MYL2):c.141C>T (p.Asn47=) http://identifiers.org/clinvar/43458 ^@ NM_000432.3(MYL2):c.170G>A (p.Gly57Glu) http://identifiers.org/clinvar/43459 ^@ NM_000432.3(MYL2):c.193G>A (p.Glu65Lys) http://identifiers.org/clinvar/43460 ^@ NM_000432.3(MYL2):c.243G>T (p.Val81=) http://identifiers.org/clinvar/43461 ^@ NM_000432.3(MYL2):c.260G>C (p.Gly87Ala) http://identifiers.org/clinvar/43462 ^@ NM_000432.3(MYL2):c.274+26_274+27insGT http://identifiers.org/clinvar/43463 ^@ NM_000432.3(MYL2):c.274+8C>T http://identifiers.org/clinvar/43464 ^@ NM_000432.3(MYL2):c.274+9G>A http://identifiers.org/clinvar/43465 ^@ NM_000432.3(MYL2):c.313G>A (p.Val105Met) http://identifiers.org/clinvar/43466 ^@ NM_000432.3(MYL2):c.31G>A (p.Gly11Arg) http://identifiers.org/clinvar/43467 ^@ NM_000432.3(MYL2):c.324T>C (p.Pro108=) http://identifiers.org/clinvar/43468 ^@ NM_000432.3(MYL2):c.33G>A (p.Gly11=) http://identifiers.org/clinvar/43469 ^@ NM_000432.3(MYL2):c.342G>A (p.Leu114=) http://identifiers.org/clinvar/43470 ^@ NM_000432.3(MYL2):c.353+12C>A http://identifiers.org/clinvar/43471 ^@ NM_000432.3(MYL2):c.358C>T (p.Arg120Trp) http://identifiers.org/clinvar/43472 ^@ NM_000432.3(MYL2):c.36C>T (p.Gly12=) http://identifiers.org/clinvar/43473 ^@ NM_000432.3(MYL2):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/43474 ^@ NM_000432.3(MYL2):c.4-14C>T http://identifiers.org/clinvar/43475 ^@ NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) http://identifiers.org/clinvar/43476 ^@ NM_000432.3(MYL2):c.429C>G (p.Pro143=) http://identifiers.org/clinvar/43477 ^@ NM_000432.3(MYL2):c.447C>T (p.Asn149=) http://identifiers.org/clinvar/43478 ^@ NM_000432.3(MYL2):c.459G>C (p.Lys153Asn) http://identifiers.org/clinvar/43479 ^@ NM_000432.3(MYL2):c.485G>A (p.Gly162Glu) http://identifiers.org/clinvar/43480 ^@ NM_000432.3(MYL2):c.488A>C (p.Glu163Ala) http://identifiers.org/clinvar/43481 ^@ NM_000432.3(MYL2):c.80A>G (p.Gln27Arg) http://identifiers.org/clinvar/43482 ^@ NM_000432.3(MYL2):c.82G>A (p.Glu28Lys) http://identifiers.org/clinvar/43483 ^@ NM_000432.3(MYL2):c.84A>T (p.Glu28Asp) http://identifiers.org/clinvar/43484 ^@ NM_000441.1(SLC26A4):c.*11G>A http://identifiers.org/clinvar/43485 ^@ NM_000441.1(SLC26A4):c.-189A>T http://identifiers.org/clinvar/43486 ^@ NM_000441.1(SLC26A4):c.-3-2A>G http://identifiers.org/clinvar/43487 ^@ NM_000441.1(SLC26A4):c.-66C>G http://identifiers.org/clinvar/43488 ^@ NM_000441.1(SLC26A4):c.-66C>T http://identifiers.org/clinvar/43489 ^@ NM_000441.1(SLC26A4):c.1002-9A>C http://identifiers.org/clinvar/43490 ^@ NM_000441.1(SLC26A4):c.1054G>A (p.Ala352Thr) http://identifiers.org/clinvar/43491 ^@ NM_000441.1(SLC26A4):c.1069G>A (p.Ala357Thr) http://identifiers.org/clinvar/43492 ^@ NM_000441.1(SLC26A4):c.1061T>C (p.Phe354Ser) http://identifiers.org/clinvar/43493 ^@ NM_000441.1(SLC26A4):c.1149+3A>G http://identifiers.org/clinvar/43494 ^@ NM_000441.1(SLC26A4):c.1198delT (p.Cys400Valfs) http://identifiers.org/clinvar/43495 ^@ NM_000441.1(SLC26A4):c.1204G>A (p.Val402Met) http://identifiers.org/clinvar/43496 ^@ NM_000441.1(SLC26A4):c.1226G>A (p.Arg409His) http://identifiers.org/clinvar/43497 ^@ NM_000441.1(SLC26A4):c.1226G>C (p.Arg409Pro) http://identifiers.org/clinvar/43498 ^@ NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met) http://identifiers.org/clinvar/43499 ^@ NM_000441.1(SLC26A4):c.1234G>A (p.Val412Ile) http://identifiers.org/clinvar/43500 ^@ NM_000441.1(SLC26A4):c.1264-1G>C http://identifiers.org/clinvar/43501 ^@ NM_000441.1(SLC26A4):c.1284_1286delTGC (p.Ala429del) http://identifiers.org/clinvar/43502 ^@ NM_000441.1(SLC26A4):c.1299C>T (p.Ile433=) http://identifiers.org/clinvar/43503 ^@ NM_000441.1(SLC26A4):c.1308_1313delTGCCCT (p.Ala437_Leu438del) http://identifiers.org/clinvar/43504 ^@ NM_000441.1(SLC26A4):c.1336C>T (p.Gln446Ter) http://identifiers.org/clinvar/43505 ^@ NM_000441.1(SLC26A4):c.1341+1delG http://identifiers.org/clinvar/43506 ^@ NM_000441.1(SLC26A4):c.1342-2_1343dupAGTC http://identifiers.org/clinvar/43507 ^@ NM_000441.1(SLC26A4):c.1363A>T (p.Ile455Phe) http://identifiers.org/clinvar/43508 ^@ NM_000441.1(SLC26A4):c.1437+2T>G http://identifiers.org/clinvar/43509 ^@ NM_000441.1(SLC26A4):c.1488C>T (p.Leu496=) http://identifiers.org/clinvar/43511 ^@ NM_000441.1(SLC26A4):c.1541A>G (p.Gln514Arg) http://identifiers.org/clinvar/43512 ^@ NM_000441.1(SLC26A4):c.1545-14_1545-12delATT http://identifiers.org/clinvar/43513 ^@ NM_000441.1(SLC26A4):c.1545-5T>G http://identifiers.org/clinvar/43514 ^@ NM_000441.1(SLC26A4):c.1548_1549insC (p.Ser517Leufs) http://identifiers.org/clinvar/43515 ^@ NM_000441.1(SLC26A4):c.15C>A (p.Gly5=) http://identifiers.org/clinvar/43516 ^@ NM_000441.1(SLC26A4):c.1614+1G>A http://identifiers.org/clinvar/43517 ^@ NM_000441.1(SLC26A4):c.1614C>T (p.Asn538=) http://identifiers.org/clinvar/43518 ^@ NM_000441.1(SLC26A4):c.164+2T>C http://identifiers.org/clinvar/43519 ^@ NM_000441.1(SLC26A4):c.1694G>A (p.Cys565Tyr) http://identifiers.org/clinvar/43520 ^@ NM_000441.1(SLC26A4):c.1698C>G (p.Ile566Met) http://identifiers.org/clinvar/43521 ^@ NM_000441.1(SLC26A4):c.1708G>A (p.Val570Ile) http://identifiers.org/clinvar/43522 ^@ NM_000441.1(SLC26A4):c.170C>G (p.Ser57Ter) http://identifiers.org/clinvar/43523 ^@ NM_000441.1(SLC26A4):c.1766A>C (p.Gln589Pro) http://identifiers.org/clinvar/43524 ^@ NM_000441.1(SLC26A4):c.17G>T (p.Gly6Val) http://identifiers.org/clinvar/43525 ^@ NM_000441.1(SLC26A4):c.1790T>C (p.Leu597Ser) http://identifiers.org/clinvar/43526 ^@ NM_000441.1(SLC26A4):c.1826T>G (p.Val609Gly) http://identifiers.org/clinvar/43527 ^@ NM_000441.1(SLC26A4):c.1924T>C (p.Ser642Pro) http://identifiers.org/clinvar/43528 ^@ NM_000441.1(SLC26A4):c.1963A>G (p.Ile655Val) http://identifiers.org/clinvar/43529 ^@ NM_000441.1(SLC26A4):c.1983C>A (p.Asp661Glu) http://identifiers.org/clinvar/43530 ^@ NM_000441.1(SLC26A4):c.1996T>A (p.Ser666Thr) http://identifiers.org/clinvar/43531 ^@ NM_000441.1(SLC26A4):c.200C>G (p.Thr67Ser) http://identifiers.org/clinvar/43532 ^@ NM_000441.1(SLC26A4):c.2015G>A (p.Gly672Glu) http://identifiers.org/clinvar/43533 ^@ NM_000441.1(SLC26A4):c.2027T>A (p.Leu676Gln) http://identifiers.org/clinvar/43534 ^@ NM_000441.1(SLC26A4):c.2029C>A (p.Arg677=) http://identifiers.org/clinvar/43535 ^@ NM_000441.1(SLC26A4):c.2059G>T (p.Asp687Tyr) http://identifiers.org/clinvar/43536 ^@ NM_000441.1(SLC26A4):c.2090A>C (p.Asp697Ala) http://identifiers.org/clinvar/43537 ^@ NM_000441.1(SLC26A4):c.209C>T (p.Pro70Leu) http://identifiers.org/clinvar/43538 ^@ NM_000441.1(SLC26A4):c.2130C>T (p.Asp710=) http://identifiers.org/clinvar/43539 ^@ NM_000441.1(SLC26A4):c.2131G>A (p.Asp711Asn) http://identifiers.org/clinvar/43540 ^@ NM_000441.1(SLC26A4):c.2139T>G (p.Ile713Met) http://identifiers.org/clinvar/43541 ^@ NM_000441.1(SLC26A4):c.2145G>T (p.Lys715Asn) http://identifiers.org/clinvar/43542 ^@ NM_000441.1(SLC26A4):c.2188C>T (p.Gln730Ter) http://identifiers.org/clinvar/43543 ^@ NM_000441.1(SLC26A4):c.2190G>T (p.Gln730His) http://identifiers.org/clinvar/43544 ^@ NM_000441.1(SLC26A4):c.2218G>A (p.Gly740Ser) http://identifiers.org/clinvar/43545 ^@ NM_000441.1(SLC26A4):c.2219G>T (p.Gly740Val) http://identifiers.org/clinvar/43546 ^@ NM_000441.1(SLC26A4):c.2291C>T (p.Thr764Met) http://identifiers.org/clinvar/43547 ^@ NM_000441.1(SLC26A4):c.2326C>T (p.Arg776Cys) http://identifiers.org/clinvar/43548 ^@ NM_000441.1(SLC26A4):c.260A>G (p.Asp87Gly) http://identifiers.org/clinvar/43549 ^@ NM_000441.1(SLC26A4):c.283G>A (p.Gly95Arg) http://identifiers.org/clinvar/43550 ^@ NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) http://identifiers.org/clinvar/43551 ^@ NM_000441.1(SLC26A4):c.294_298delCACGC (p.Thr99Alafs) http://identifiers.org/clinvar/43552 ^@ NM_000441.1(SLC26A4):c.297G>A (p.Thr99=) http://identifiers.org/clinvar/43553 ^@ NM_000441.1(SLC26A4):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/43554 ^@ NM_000441.1(SLC26A4):c.322C>T (p.Leu108=) http://identifiers.org/clinvar/43555 ^@ NM_000441.1(SLC26A4):c.349C>T (p.Leu117Phe) http://identifiers.org/clinvar/43556 ^@ NM_000441.1(SLC26A4):c.397_398delTCinsA (p.Ser133Lysfs) http://identifiers.org/clinvar/43557 ^@ NM_000441.1(SLC26A4):c.416-13T>C http://identifiers.org/clinvar/43558 ^@ NM_000441.1(SLC26A4):c.416-7T>C http://identifiers.org/clinvar/43559 ^@ NM_000441.1(SLC26A4):c.545A>T (p.Asp182Val) http://identifiers.org/clinvar/43560 ^@ NM_000441.1(SLC26A4):c.565G>T (p.Ala189Ser) http://identifiers.org/clinvar/43561 ^@ NM_000441.1(SLC26A4):c.572C>T (p.Ala191Val) http://identifiers.org/clinvar/43562 ^@ NM_000441.1(SLC26A4):c.589G>A (p.Gly197Arg) http://identifiers.org/clinvar/43563 ^@ NM_000441.1(SLC26A4):c.68C>A (p.Ser23Ter) http://identifiers.org/clinvar/43564 ^@ NM_000441.1(SLC26A4):c.697G>C (p.Val233Leu) http://identifiers.org/clinvar/43565 ^@ NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) http://identifiers.org/clinvar/43566 ^@ NM_000441.1(SLC26A4):c.716T>A (p.Val239Asp) http://identifiers.org/clinvar/43567 ^@ NM_000441.1(SLC26A4):c.765+2T>C http://identifiers.org/clinvar/43568 ^@ NM_000441.1(SLC26A4):c.845G>A (p.Cys282Tyr) http://identifiers.org/clinvar/43569 ^@ NM_000441.1(SLC26A4):c.85G>T (p.Glu29Ter) http://identifiers.org/clinvar/43570 ^@ NM_000441.1(SLC26A4):c.898A>C (p.Ile300Leu) http://identifiers.org/clinvar/43571 ^@ NM_000441.1(SLC26A4):c.918+1G>T http://identifiers.org/clinvar/43573 ^@ NM_000441.1(SLC26A4):c.964A>G (p.Asn322Asp) http://identifiers.org/clinvar/43574 ^@ NM_000441.1(SLC26A4):c.970A>T (p.Asn324Tyr) http://identifiers.org/clinvar/43575 ^@ NM_000492.3(CFTR):c.1210-14_1210-13delTG http://identifiers.org/clinvar/43576 ^@ NM_000492.3(CFTR):c.1584G>A (p.Glu528=) http://identifiers.org/clinvar/43577 ^@ NM_000492.3(CFTR):c.2562T>G (p.Thr854=) http://identifiers.org/clinvar/43579 ^@ NM_000492.3(CFTR):c.744-9_744-6delGATT http://identifiers.org/clinvar/43580 ^@ NM_000492.3(CFTR):c.964G>A (p.Val322Met) http://identifiers.org/clinvar/43581 ^@ NM_000501.3(ELN):c.1233C>T (p.Val411=) http://identifiers.org/clinvar/43582 ^@ NM_000501.3(ELN):c.1264G>A (p.Gly422Ser) http://identifiers.org/clinvar/43583 ^@ NM_000501.3(ELN):c.1269C>G (p.Val423=) http://identifiers.org/clinvar/43584 ^@ NM_000501.3(ELN):c.212C>T (p.Ala71Val) http://identifiers.org/clinvar/43585 ^@ NM_000501.3(ELN):c.2132G>A (p.Gly711Asp) http://identifiers.org/clinvar/43586 ^@ NM_000501.3(ELN):c.800-3C>G http://identifiers.org/clinvar/43587 ^@ NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) http://identifiers.org/clinvar/43588 ^@ NM_000546.5(TP53):c.139C>T (p.Pro47Ser) http://identifiers.org/clinvar/43589 ^@ NM_000546.5(TP53):c.586C>T (p.Arg196Ter) http://identifiers.org/clinvar/43590 ^@ NM_000546.5(TP53):c.637C>T (p.Arg213Ter) http://identifiers.org/clinvar/43591 ^@ NM_000546.5(TP53):c.639A>G (p.Arg213=) http://identifiers.org/clinvar/43592 ^@ NM_000546.5(TP53):c.718_741del24 (p.Ser240_Asn247del) http://identifiers.org/clinvar/43593 ^@ NM_000546.5(TP53):c.77_80delTTCCinsAAGAACGT (p.Leu26Glnfs) http://identifiers.org/clinvar/43594 ^@ NM_000546.5(TP53):c.817C>T (p.Arg273Cys) http://identifiers.org/clinvar/43595 ^@ NM_000546.5(TP53):c.920-2A>G http://identifiers.org/clinvar/43596 ^@ NM_000551.3(VHL):c.150C>G (p.Ala50=) http://identifiers.org/clinvar/43597 ^@ NM_000551.3(VHL):c.194C>G (p.Ser65Trp) http://identifiers.org/clinvar/43598 ^@ NM_000551.3(VHL):c.208G>A (p.Glu70Lys) http://identifiers.org/clinvar/43599 ^@ NM_000551.3(VHL):c.319C>G (p.Arg107Gly) http://identifiers.org/clinvar/43600 ^@ NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) http://identifiers.org/clinvar/43601 ^@ NM_000551.3(VHL):c.408delT (p.Phe136Leufs) http://identifiers.org/clinvar/43602 ^@ NM_000551.3(VHL):c.463+2T>G http://identifiers.org/clinvar/43603 ^@ NM_000551.3(VHL):c.464-1G>A http://identifiers.org/clinvar/43604 ^@ NM_000551.3(VHL):c.485G>T (p.Cys162Phe) http://identifiers.org/clinvar/43605 ^@ NM_000551.3(VHL):c.497T>C (p.Val166Ala) http://identifiers.org/clinvar/43606 ^@ NM_000601.5(HGF):c.1008G>A (p.Glu336=) http://identifiers.org/clinvar/43607 ^@ NM_000601.5(HGF):c.1272-4A>G http://identifiers.org/clinvar/43608 ^@ NM_000601.5(HGF):c.1454T>C (p.Ile485Thr) http://identifiers.org/clinvar/43609 ^@ NM_000601.5(HGF):c.333A>G (p.Glu111=) http://identifiers.org/clinvar/43610 ^@ NM_000601.5(HGF):c.711T>C (p.His237=) http://identifiers.org/clinvar/43611 ^@ NM_000601.5(HGF):c.910G>A (p.Glu304Lys) http://identifiers.org/clinvar/43612 ^@ NM_000364.3(TNNT2):c.136G>C (p.Ala46Pro) http://identifiers.org/clinvar/43613 ^@ NM_001001430.2(TNNT2):c.133+12G>A http://identifiers.org/clinvar/43614 ^@ NM_001001430.2(TNNT2):c.170-4C>G http://identifiers.org/clinvar/43615 ^@ NM_001001430.2(TNNT2):c.178A>G (p.Met60Val) http://identifiers.org/clinvar/43616 ^@ NM_001001430.2(TNNT2):c.203+6T>C http://identifiers.org/clinvar/43617 ^@ NM_001001430.2(TNNT2):c.207G>A (p.Ser69=) http://identifiers.org/clinvar/43618 ^@ NM_000364.3(TNNT2):c.248A>G (p.Asn83Ser) http://identifiers.org/clinvar/43619 ^@ NM_000364.3(TNNT2):c.260C>T (p.Pro87Leu) http://identifiers.org/clinvar/43620 ^@ NM_001001430.2(TNNT2):c.238C>T (p.Pro80Ser) http://identifiers.org/clinvar/43621 ^@ NM_001001430.2(TNNT2):c.240C>G (p.Pro80=) http://identifiers.org/clinvar/43622 ^@ NM_000364.3(TNNT2):c.270C>T (p.Pro90=) http://identifiers.org/clinvar/43623 ^@ NM_001001430.2(TNNT2):c.251G>C (p.Arg84Thr) http://identifiers.org/clinvar/43624 ^@ NM_000364.3(TNNT2):c.282A>T (p.Arg94Ser) http://identifiers.org/clinvar/43625 ^@ NM_000364.3(TNNT2):c.294T>G (p.Asp98Glu) http://identifiers.org/clinvar/43626 ^@ NM_001001430.2(TNNT2):c.257A>C (p.Asp86Ala) http://identifiers.org/clinvar/43627 ^@ NM_000364.3(TNNT2):c.304C>T (p.Arg102Trp) http://identifiers.org/clinvar/43628 ^@ NM_001001430.2(TNNT2):c.281G>A (p.Arg94His) http://identifiers.org/clinvar/43629 ^@ NM_001001430.2(TNNT2):c.281G>T (p.Arg94Leu) http://identifiers.org/clinvar/43630 ^@ NM_000364.3(TNNT2):c.313A>G (p.Met105Val) http://identifiers.org/clinvar/43631 ^@ NM_001001430.2(TNNT2):c.291G>T (p.Lys97Asn) http://identifiers.org/clinvar/43632 ^@ NM_001001430.2(TNNT2):c.318C>T (p.Ile106=) http://identifiers.org/clinvar/43633 ^@ NM_000364.3(TNNT2):c.355C>T (p.His119Tyr) http://identifiers.org/clinvar/43634 ^@ NM_000364.3(TNNT2):c.382G>A (p.Glu128Lys) http://identifiers.org/clinvar/43635 ^@ NM_000364.3(TNNT2):c.412-6_412-4delCCT http://identifiers.org/clinvar/43636 ^@ NM_001001430.2(TNNT2):c.388C>T (p.Arg130Cys) http://identifiers.org/clinvar/43637 ^@ NM_000364.3(TNNT2):c.422G>A (p.Arg141Gln) http://identifiers.org/clinvar/43638 ^@ NM_000364.3(TNNT2):c.422G>C (p.Arg141Pro) http://identifiers.org/clinvar/43639 ^@ NM_000364.3(TNNT2):c.430C>G (p.Arg144Gly) http://identifiers.org/clinvar/43640 ^@ NM_001001430.2(TNNT2):c.415C>T (p.Arg139Cys) http://identifiers.org/clinvar/43641 ^@ NM_001001430.2(TNNT2):c.444G>C (p.Arg148=) http://identifiers.org/clinvar/43642 ^@ NM_001001430.2(TNNT2):c.416G>A (p.Arg139His) http://identifiers.org/clinvar/43643 ^@ NM_000364.3(TNNT2):c.451C>A (p.Arg151=) http://identifiers.org/clinvar/43644 ^@ NM_000364.3(TNNT2):c.489+7dupG http://identifiers.org/clinvar/43645 ^@ NM_000364.3(TNNT2):c.503G>A (p.Arg168Gln) http://identifiers.org/clinvar/43646 ^@ NM_000364.3(TNNT2):c.505C>T (p.Arg169Ter) http://identifiers.org/clinvar/43647 ^@ NM_001001430.2(TNNT2):c.476G>A (p.Arg159Gln) http://identifiers.org/clinvar/43648 ^@ NM_001001430.2(TNNT2):c.487_489delGAG (p.Glu163del) http://identifiers.org/clinvar/43649 ^@ NM_001001430.2(TNNT2):c.518G>A (p.Arg173Gln) http://identifiers.org/clinvar/43650 ^@ NM_000364.3(TNNT2):c.52+6C>T http://identifiers.org/clinvar/43651 ^@ NM_001001430.2(TNNT2):c.52+7G>A http://identifiers.org/clinvar/43652 ^@ NM_001001430.1(TNNT2):c.53-11_53-7delCTTCT http://identifiers.org/clinvar/43653 ^@ NM_000364.3(TNNT2):c.560C>A (p.Ala187Asp) http://identifiers.org/clinvar/43654 ^@ NM_001001430.2(TNNT2):c.534G>C (p.Leu178Phe) http://identifiers.org/clinvar/43655 ^@ NM_000364.3(TNNT2):c.567C>T (p.Ser189=) http://identifiers.org/clinvar/43656 ^@ NM_000364.3(TNNT2):c.601-379G>A http://identifiers.org/clinvar/43657 ^@ NM_001001430.2(TNNT2):c.571-8C>T http://identifiers.org/clinvar/43658 ^@ NM_000364.3(TNNT2):c.629C>T (p.Thr210Ile) http://identifiers.org/clinvar/43659 ^@ NM_001001430.2(TNNT2):c.629_631delAGA (p.Lys210del) http://identifiers.org/clinvar/43660 ^@ NM_000364.3(TNNT2):c.63T>G (p.Val21=) http://identifiers.org/clinvar/43661 ^@ NM_000364.3(TNNT2):c.670A>G (p.Lys224Glu) http://identifiers.org/clinvar/43662 ^@ NM_000364.3(TNNT2):c.673G>T (p.Val225Leu) http://identifiers.org/clinvar/43663 ^@ NM_000364.3(TNNT2):c.711-13_711-11delCTT http://identifiers.org/clinvar/43664 ^@ NM_001001430.2(TNNT2):c.690-4G>T http://identifiers.org/clinvar/43665 ^@ NM_001001430.2(TNNT2):c.690-6G>A http://identifiers.org/clinvar/43666 ^@ NM_000364.3(TNNT2):c.711-7C>T http://identifiers.org/clinvar/43667 ^@ NM_000364.3(TNNT2):c.753G>T (p.Glu251Asp) http://identifiers.org/clinvar/43668 ^@ NM_001001430.2(TNNT2):c.744C>T (p.Phe248=) http://identifiers.org/clinvar/43669 ^@ NM_001001430.2(TNNT2):c.758A>G (p.Lys253Arg) http://identifiers.org/clinvar/43670 ^@ NM_001001430.2(TNNT2):c.773A>T (p.Lys258Ile) http://identifiers.org/clinvar/43671 ^@ NM_000364.3(TNNT2):c.806A>G (p.Asn269Ser) http://identifiers.org/clinvar/43672 ^@ NM_001001430.2(TNNT2):c.807C>T (p.Asn269=) http://identifiers.org/clinvar/43673 ^@ NM_000364.3(TNNT2):c.842+1G>A http://identifiers.org/clinvar/43674 ^@ NM_001001430.2(TNNT2):c.833G>A (p.Arg278His) http://identifiers.org/clinvar/43675 ^@ NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) http://identifiers.org/clinvar/43676 ^@ NM_000364.3(TNNT2):c.877C>T (p.Arg293Cys) http://identifiers.org/clinvar/43677 ^@ NM_000364.3(TNNT2):c.878G>A (p.Arg293His) http://identifiers.org/clinvar/43678 ^@ NM_001018005.1(TPM1):c.603G>C (p.Thr201=) http://identifiers.org/clinvar/43679 ^@ NM_001018005.1(TPM1):c.609C>G (p.Asn203Lys) http://identifiers.org/clinvar/43680 ^@ NM_001018005.1(TPM1):c.632C>G (p.Ala211Gly) http://identifiers.org/clinvar/43681 ^@ NM_001018005.1(TPM1):c.639+13delG http://identifiers.org/clinvar/43682 ^@ NM_001018008.1(TPM1):c.34A>T (p.Arg12Trp) http://identifiers.org/clinvar/43683 ^@ NM_001018008.1(TPM1):c.7G>A (p.Gly3Arg) http://identifiers.org/clinvar/43684 ^@ NM_001018020.1(TPM1):c.117C>G (p.Leu39=) http://identifiers.org/clinvar/43685 ^@ NM_001018020.1(TPM1):c.120G>A (p.Glu40=) http://identifiers.org/clinvar/43686 ^@ NM_001018020.1(TPM1):c.174C>T (p.Asp58=) http://identifiers.org/clinvar/43687 ^@ NM_001018004.1(TPM1):c.775A>G (p.Lys259Glu) http://identifiers.org/clinvar/43689 ^@ NM_003242.5(TGFBR2):c.94+16238C>T http://identifiers.org/clinvar/43691 ^@ NM_001032283.2(TMPO):c.1079+5dupT http://identifiers.org/clinvar/43692 ^@ NM_001032283.2(TMPO):c.77C>T (p.Thr26Met) http://identifiers.org/clinvar/43693 ^@ NM_001032283.2(TMPO):c.859G>C (p.Ala287Pro) http://identifiers.org/clinvar/43694 ^@ NM_001032283.2(TMPO):c.991-14_991-11delCTGT http://identifiers.org/clinvar/43695 ^@ NM_001032283.2(TMPO):c.991-4T>C http://identifiers.org/clinvar/43696 ^@ NM_001035.2(RYR2):c.10142+4T>C http://identifiers.org/clinvar/43697 ^@ NM_001035.2(RYR2):c.10258G>A (p.Val3420Ile) http://identifiers.org/clinvar/43698 ^@ NM_001035.2(RYR2):c.10324-4A>G http://identifiers.org/clinvar/43699 ^@ NM_001035.2(RYR2):c.10503C>T (p.Thr3501=) http://identifiers.org/clinvar/43700 ^@ NM_001035.2(RYR2):c.10602A>G (p.Leu3534=) http://identifiers.org/clinvar/43701 ^@ NM_001035.2(RYR2):c.10641G>A (p.Thr3547=) http://identifiers.org/clinvar/43702 ^@ NM_001035.2(RYR2):c.10776C>T (p.Ser3592=) http://identifiers.org/clinvar/43703 ^@ NM_001035.2(RYR2):c.11092-11delT http://identifiers.org/clinvar/43704 ^@ NM_001035.2(RYR2):c.11092-12_11092-11delTT http://identifiers.org/clinvar/43705 ^@ NM_001035.2(RYR2):c.11092-6A>T http://identifiers.org/clinvar/43706 ^@ NM_001035.2(RYR2):c.11217G>T (p.Met3739Ile) http://identifiers.org/clinvar/43707 ^@ NM_001035.2(RYR2):c.11246-11delA http://identifiers.org/clinvar/43708 ^@ NM_001035.2(RYR2):c.1135G>A (p.Val379Met) http://identifiers.org/clinvar/43709 ^@ NM_001035.2(RYR2):c.11398T>A (p.Cys3800Ser) http://identifiers.org/clinvar/43710 ^@ NM_001035.2(RYR2):c.1143C>T (p.Ser381=) http://identifiers.org/clinvar/43711 ^@ NM_001035.2(RYR2):c.11476+15C>T http://identifiers.org/clinvar/43712 ^@ NM_001035.2(RYR2):c.11496C>T (p.Asp3832=) http://identifiers.org/clinvar/43713 ^@ NM_001035.2(RYR2):c.1163A>G (p.Gln388Arg) http://identifiers.org/clinvar/43714 ^@ NM_001035.2(RYR2):c.11775+13delA http://identifiers.org/clinvar/43715 ^@ NM_001035.2(RYR2):c.11835C>T (p.Val3945=) http://identifiers.org/clinvar/43716 ^@ NM_001035.2(RYR2):c.11963-11T>C http://identifiers.org/clinvar/43717 ^@ NM_001035.2(RYR2):c.11988C>T (p.Gly3996=) http://identifiers.org/clinvar/43718 ^@ NM_001035.2(RYR2):c.12047T>A (p.Phe4016Tyr) http://identifiers.org/clinvar/43719 ^@ NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) http://identifiers.org/clinvar/43720 ^@ NM_001035.2(RYR2):c.12544G>C (p.Glu4182Gln) http://identifiers.org/clinvar/43721 ^@ NM_001035.2(RYR2):c.12705C>T (p.Phe4235=) http://identifiers.org/clinvar/43722 ^@ NM_001035.2(RYR2):c.12842C>T (p.Thr4281Met) http://identifiers.org/clinvar/43723 ^@ NM_001035.2(RYR2):c.13137C>A (p.Ile4379=) http://identifiers.org/clinvar/43724 ^@ NM_001035.2(RYR2):c.13206C>T (p.Leu4402=) http://identifiers.org/clinvar/43725 ^@ NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr) http://identifiers.org/clinvar/43726 ^@ NM_001035.2(RYR2):c.13541A>G (p.Asn4514Ser) http://identifiers.org/clinvar/43727 ^@ NM_001035.2(RYR2):c.13566C>T (p.Val4522=) http://identifiers.org/clinvar/43728 ^@ NM_001035.2(RYR2):c.1359C>T (p.Ser453=) http://identifiers.org/clinvar/43729 ^@ NM_001035.2(RYR2):c.13656T>C (p.His4552=) http://identifiers.org/clinvar/43730 ^@ NM_001035.2(RYR2):c.13740G>A (p.Thr4580=) http://identifiers.org/clinvar/43731 ^@ NM_001035.2(RYR2):c.13783-6A>G http://identifiers.org/clinvar/43732 ^@ NM_001035.2(RYR2):c.13913+12A>C http://identifiers.org/clinvar/43733 ^@ NM_001035.2(RYR2):c.13977G>A (p.Glu4659=) http://identifiers.org/clinvar/43734 ^@ NM_001035.2(RYR2):c.13983C>T (p.Tyr4661=) http://identifiers.org/clinvar/43735 ^@ NM_001035.2(RYR2):c.14090+14C>T http://identifiers.org/clinvar/43736 ^@ NM_001035.2(RYR2):c.14091-11dupT http://identifiers.org/clinvar/43737 ^@ NM_001035.2(RYR2):c.14091-11delT http://identifiers.org/clinvar/43738 ^@ NM_001035.2(RYR2):c.14122T>G (p.Trp4708Gly) http://identifiers.org/clinvar/43739 ^@ NM_001035.2(RYR2):c.14167G>A (p.Ala4723Thr) http://identifiers.org/clinvar/43740 ^@ NM_001035.2(RYR2):c.14299-12A>G http://identifiers.org/clinvar/43741 ^@ NM_001035.2(RYR2):c.14415A>G (p.Lys4805=) http://identifiers.org/clinvar/43742 ^@ NM_001035.2(RYR2):c.14421C>T (p.Asp4807=) http://identifiers.org/clinvar/43743 ^@ NM_001035.2(RYR2):c.14440A>G (p.Met4814Val) http://identifiers.org/clinvar/43744 ^@ NM_001035.2(RYR2):c.1446G>A (p.Leu482=) http://identifiers.org/clinvar/43745 ^@ NM_001035.2(RYR2):c.14481C>A (p.Ile4827=) http://identifiers.org/clinvar/43746 ^@ NM_001035.2(RYR2):c.14481C>T (p.Ile4827=) http://identifiers.org/clinvar/43747 ^@ NM_001035.2(RYR2):c.1476+4C>T http://identifiers.org/clinvar/43748 ^@ NM_001035.2(RYR2):c.1477-11dupT http://identifiers.org/clinvar/43749 ^@ NM_001035.2(RYR2):c.1477-11delT http://identifiers.org/clinvar/43750 ^@ NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) http://identifiers.org/clinvar/43751 ^@ NM_001035.2(RYR2):c.1548T>C (p.Asp516=) http://identifiers.org/clinvar/43752 ^@ NM_001035.2(RYR2):c.1612+14T>C http://identifiers.org/clinvar/43753 ^@ NM_001035.2(RYR2):c.1776A>T (p.Gly592=) http://identifiers.org/clinvar/43754 ^@ NM_001035.2(RYR2):c.1837G>A (p.Val613Ile) http://identifiers.org/clinvar/43755 ^@ NM_001035.2(RYR2):c.2046A>G (p.Thr682=) http://identifiers.org/clinvar/43756 ^@ NM_001035.2(RYR2):c.231G>A (p.Ala77=) http://identifiers.org/clinvar/43757 ^@ NM_001035.2(RYR2):c.2334G>A (p.Met778Ile) http://identifiers.org/clinvar/43758 ^@ NM_001035.2(RYR2):c.2397-6C>T http://identifiers.org/clinvar/43759 ^@ NM_001035.2(RYR2):c.2402G>T (p.Arg801Leu) http://identifiers.org/clinvar/43760 ^@ NM_001035.2(RYR2):c.2717C>T (p.Pro906Leu) http://identifiers.org/clinvar/43761 ^@ NM_001035.2(RYR2):c.2719-4T>A http://identifiers.org/clinvar/43762 ^@ NM_001035.2(RYR2):c.2760G>A (p.Glu920=) http://identifiers.org/clinvar/43763 ^@ NM_001035.2(RYR2):c.2973A>G (p.Ser991=) http://identifiers.org/clinvar/43764 ^@ NM_001035.2(RYR2):c.3030T>C (p.Asp1010=) http://identifiers.org/clinvar/43765 ^@ NM_001035.2(RYR2):c.3152G>A (p.Arg1051His) http://identifiers.org/clinvar/43766 ^@ NM_001035.2(RYR2):c.3153C>T (p.Arg1051=) http://identifiers.org/clinvar/43767 ^@ NM_001035.2(RYR2):c.3230T>C (p.Val1077Ala) http://identifiers.org/clinvar/43768 ^@ NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) http://identifiers.org/clinvar/43769 ^@ NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) http://identifiers.org/clinvar/43770 ^@ NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) http://identifiers.org/clinvar/43771 ^@ NM_001035.2(RYR2):c.345C>T (p.Tyr115=) http://identifiers.org/clinvar/43772 ^@ NM_001035.2(RYR2):c.3537T>C (p.Gly1179=) http://identifiers.org/clinvar/43773 ^@ NM_001035.2(RYR2):c.3596A>G (p.Asp1199Gly) http://identifiers.org/clinvar/43774 ^@ NM_001035.2(RYR2):c.364C>T (p.Arg122Cys) http://identifiers.org/clinvar/43775 ^@ NM_001035.2(RYR2):c.3721G>A (p.Val1241Ile) http://identifiers.org/clinvar/43776 ^@ NM_001035.2(RYR2):c.375T>C (p.Tyr125=) http://identifiers.org/clinvar/43777 ^@ NM_001035.2(RYR2):c.3849A>G (p.Leu1283=) http://identifiers.org/clinvar/43778 ^@ NM_001035.2(RYR2):c.4068C>T (p.Pro1356=) http://identifiers.org/clinvar/43779 ^@ NM_001035.2(RYR2):c.4125T>C (p.Asp1375=) http://identifiers.org/clinvar/43780 ^@ NM_001035.2(RYR2):c.4160+10T>C http://identifiers.org/clinvar/43781 ^@ NM_001035.2(RYR2):c.4160+7A>G http://identifiers.org/clinvar/43782 ^@ NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) http://identifiers.org/clinvar/43783 ^@ NM_001035.2(RYR2):c.4329G>A (p.Val1443=) http://identifiers.org/clinvar/43784 ^@ NM_001035.2(RYR2):c.4596+12G>A http://identifiers.org/clinvar/43785 ^@ NM_001035.2(RYR2):c.4596+4C>T http://identifiers.org/clinvar/43786 ^@ NM_001035.2(RYR2):c.4597-11delA http://identifiers.org/clinvar/43787 ^@ NM_001035.2(RYR2):c.4605G>A (p.Pro1535=) http://identifiers.org/clinvar/43788 ^@ NM_001035.2(RYR2):c.463+6C>T http://identifiers.org/clinvar/43789 ^@ NM_001035.2(RYR2):c.463+6dupC http://identifiers.org/clinvar/43790 ^@ NM_001035.2(RYR2):c.464-8A>C http://identifiers.org/clinvar/43791 ^@ NM_001035.2(RYR2):c.4684-11C>T http://identifiers.org/clinvar/43792 ^@ NM_001035.2(RYR2):c.4684-5G>C http://identifiers.org/clinvar/43793 ^@ NM_001035.2(RYR2):c.4723C>T (p.His1575Tyr) http://identifiers.org/clinvar/43794 ^@ NM_001035.2(RYR2):c.4734C>T (p.Pro1578=) http://identifiers.org/clinvar/43795 ^@ NM_001035.2(RYR2):c.4740G>A (p.Pro1580=) http://identifiers.org/clinvar/43796 ^@ NM_001035.2(RYR2):c.4770C>T (p.Phe1590=) http://identifiers.org/clinvar/43797 ^@ NM_001035.2(RYR2):c.4989C>T (p.Ala1663=) http://identifiers.org/clinvar/43798 ^@ NM_001035.2(RYR2):c.5001T>C (p.Leu1667=) http://identifiers.org/clinvar/43799 ^@ NM_001035.2(RYR2):c.5005A>G (p.Asn1669Asp) http://identifiers.org/clinvar/43800 ^@ NM_001035.2(RYR2):c.5154G>A (p.Arg1718=) http://identifiers.org/clinvar/43801 ^@ NM_001035.2(RYR2):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/43802 ^@ NM_001035.2(RYR2):c.5136C>T (p.Ser1712=) http://identifiers.org/clinvar/43803 ^@ NM_001035.2(RYR2):c.5190G>A (p.Thr1730=) http://identifiers.org/clinvar/43804 ^@ NM_001035.2(RYR2):c.5261G>C (p.Ser1754Thr) http://identifiers.org/clinvar/43805 ^@ NM_001035.2(RYR2):c.5400A>G (p.Lys1800=) http://identifiers.org/clinvar/43806 ^@ NM_001035.2(RYR2):c.5543C>T (p.Pro1848Leu) http://identifiers.org/clinvar/43807 ^@ NM_001035.2(RYR2):c.5619A>G (p.Ala1873=) http://identifiers.org/clinvar/43808 ^@ NM_001035.2(RYR2):c.570G>T (p.Arg190Ser) http://identifiers.org/clinvar/43809 ^@ NM_001035.2(RYR2):c.5754C>T (p.Val1918=) http://identifiers.org/clinvar/43810 ^@ NM_001035.2(RYR2):c.576+7G>C http://identifiers.org/clinvar/43811 ^@ NM_001035.2(RYR2):c.5825T>G (p.Phe1942Cys) http://identifiers.org/clinvar/43812 ^@ NM_001035.2(RYR2):c.6166+8G>A http://identifiers.org/clinvar/43813 ^@ NM_001035.2(RYR2):c.6337G>A (p.Val2113Met) http://identifiers.org/clinvar/43814 ^@ NM_001035.2(RYR2):c.6380G>A (p.Arg2127Gln) http://identifiers.org/clinvar/43815 ^@ NM_001035.2(RYR2):c.6555+8C>G http://identifiers.org/clinvar/43816 ^@ NM_001035.2(RYR2):c.6555+8C>T http://identifiers.org/clinvar/43817 ^@ NM_001035.2(RYR2):c.677-11T>A http://identifiers.org/clinvar/43818 ^@ NM_001035.2(RYR2):c.684C>T (p.Leu228=) http://identifiers.org/clinvar/43819 ^@ NM_001035.2(RYR2):c.6906T>C (p.Leu2302=) http://identifiers.org/clinvar/43820 ^@ NM_001035.2(RYR2):c.6928+4G>A http://identifiers.org/clinvar/43821 ^@ NM_001035.2(RYR2):c.7038A>C (p.Ala2346=) http://identifiers.org/clinvar/43822 ^@ NM_001035.2(RYR2):c.7117G>T (p.Asp2373Tyr) http://identifiers.org/clinvar/43823 ^@ NM_001035.2(RYR2):c.719A>G (p.His240Arg) http://identifiers.org/clinvar/43824 ^@ NM_001035.2(RYR2):c.7222-12dupT http://identifiers.org/clinvar/43825 ^@ NM_001035.2(RYR2):c.7608T>C (p.Ala2536=) http://identifiers.org/clinvar/43826 ^@ NM_001035.2(RYR2):c.7619A>G (p.His2540Arg) http://identifiers.org/clinvar/43827 ^@ NM_001035.2(RYR2):c.7806C>T (p.His2602=) http://identifiers.org/clinvar/43828 ^@ NM_001035.2(RYR2):c.8162T>C (p.Ile2721Thr) http://identifiers.org/clinvar/43829 ^@ NM_001035.2(RYR2):c.8209-3A>G http://identifiers.org/clinvar/43830 ^@ NM_001035.2(RYR2):c.8309T>C (p.Ile2770Thr) http://identifiers.org/clinvar/43831 ^@ NM_001035.2(RYR2):c.8426A>C (p.Gln2809Pro) http://identifiers.org/clinvar/43832 ^@ NM_001035.2(RYR2):c.8437-7dupG http://identifiers.org/clinvar/43833 ^@ NM_001035.2(RYR2):c.8448C>T (p.Asp2816=) http://identifiers.org/clinvar/43834 ^@ NM_001035.2(RYR2):c.849-8T>C http://identifiers.org/clinvar/43835 ^@ NM_001035.2(RYR2):c.9067+12C>T http://identifiers.org/clinvar/43836 ^@ NM_001035.2(RYR2):c.9318T>G (p.Ser3106=) http://identifiers.org/clinvar/43837 ^@ NM_001035.2(RYR2):c.9449+8T>A http://identifiers.org/clinvar/43838 ^@ NM_001035.2(RYR2):c.9450-3T>C http://identifiers.org/clinvar/43839 ^@ NM_001035.2(RYR2):c.9519T>C (p.Thr3173=) http://identifiers.org/clinvar/43840 ^@ NM_001035.2(RYR2):c.9560A>G (p.Lys3187Arg) http://identifiers.org/clinvar/43841 ^@ NM_001035.2(RYR2):c.9867G>A (p.Gly3289=) http://identifiers.org/clinvar/43842 ^@ NM_001035.2(RYR2):c.998C>T (p.Ser333Phe) http://identifiers.org/clinvar/43843 ^@ NM_001038603.2(MARVELD2):c.1147-9T>G http://identifiers.org/clinvar/43844 ^@ NM_001038603.2(MARVELD2):c.1407C>T (p.Tyr469=) http://identifiers.org/clinvar/43845 ^@ NM_001038603.2(MARVELD2):c.331G>A (p.Asp111Asn) http://identifiers.org/clinvar/43846 ^@ NM_001038603.2(MARVELD2):c.615C>T (p.Ala205=) http://identifiers.org/clinvar/43847 ^@ NM_001038603.2(MARVELD2):c.98C>T (p.Thr33Ile) http://identifiers.org/clinvar/43848 ^@ NM_001039141.2(TRIOBP):c.-14C>G http://identifiers.org/clinvar/43849 ^@ NM_001039141.2(TRIOBP):c.202A>G (p.Thr68Ala) http://identifiers.org/clinvar/43850 ^@ NM_001039141.2(TRIOBP):c.391G>A (p.Gly131Ser) http://identifiers.org/clinvar/43851 ^@ NM_001039141.2(TRIOBP):c.3975G>A (p.Gln1325=) http://identifiers.org/clinvar/43852 ^@ NM_001039141.2(TRIOBP):c.4077T>C (p.Pro1359=) http://identifiers.org/clinvar/43853 ^@ NM_001039141.2(TRIOBP):c.4099C>T (p.Arg1367Trp) http://identifiers.org/clinvar/43854 ^@ NM_001039141.2(TRIOBP):c.4116G>T (p.Glu1372Asp) http://identifiers.org/clinvar/43855 ^@ NM_001039141.2(TRIOBP):c.4129T>C (p.Trp1377Arg) http://identifiers.org/clinvar/43856 ^@ NM_001039141.2(TRIOBP):c.4178C>T (p.Pro1393Leu) http://identifiers.org/clinvar/43857 ^@ NM_001039141.2(TRIOBP):c.4333A>G (p.Arg1445Gly) http://identifiers.org/clinvar/43858 ^@ NM_001039141.2(TRIOBP):c.5052G>T (p.Thr1684=) http://identifiers.org/clinvar/43859 ^@ NM_001039141.2(TRIOBP):c.5224C>T (p.Leu1742Phe) http://identifiers.org/clinvar/43860 ^@ NM_001039141.2(TRIOBP):c.5487+9A>G http://identifiers.org/clinvar/43861 ^@ NM_001039141.2(TRIOBP):c.5488-7delG http://identifiers.org/clinvar/43862 ^@ NM_001039141.2(TRIOBP):c.5550G>A (p.Val1850=) http://identifiers.org/clinvar/43863 ^@ NM_001039141.2(TRIOBP):c.6007G>A (p.Gly2003Ser) http://identifiers.org/clinvar/43864 ^@ NM_001039141.2(TRIOBP):c.6135C>T (p.Pro2045=) http://identifiers.org/clinvar/43865 ^@ NM_001039141.2(TRIOBP):c.6272G>C (p.Ser2091Thr) http://identifiers.org/clinvar/43866 ^@ NM_001039141.2(TRIOBP):c.6498C>T (p.Tyr2166=) http://identifiers.org/clinvar/43867 ^@ NM_001039141.2(TRIOBP):c.6899T>C (p.Val2300Ala) http://identifiers.org/clinvar/43868 ^@ NM_001042702.3(DFNB59):c.437G>A (p.Arg146His) http://identifiers.org/clinvar/43869 ^@ NM_001042702.3(DFNB59):c.53G>T (p.Arg18Ile) http://identifiers.org/clinvar/43870 ^@ NM_001042702.3(DFNB59):c.793C>G (p.Arg265Gly) http://identifiers.org/clinvar/43871 ^@ NM_001042702.3(DFNB59):c.793C>T (p.Arg265Cys) http://identifiers.org/clinvar/43872 ^@ NM_001042702.3(DFNB59):c.86A>G (p.Asp29Gly) http://identifiers.org/clinvar/43873 ^@ NM_001042702.3(DFNB59):c.874G>A (p.Gly292Arg) http://identifiers.org/clinvar/43874 ^@ NM_001080116.1(LDB3):c.324G>T (p.Val108=) http://identifiers.org/clinvar/43875 ^@ NM_001080114.1(LDB3):c.345-15G>A http://identifiers.org/clinvar/43876 ^@ NM_001080116.1(LDB3):c.345-15G>T http://identifiers.org/clinvar/43877 ^@ NM_001080116.1(LDB3):c.348C>T (p.Ala116=) http://identifiers.org/clinvar/43878 ^@ NM_001080116.1(LDB3):c.456G>T (p.Ala152=) http://identifiers.org/clinvar/43879 ^@ NM_001080114.1(LDB3):c.504T>C (p.Asp168=) http://identifiers.org/clinvar/43880 ^@ NM_001080114.1(LDB3):c.546T>C (p.Ser182=) http://identifiers.org/clinvar/43881 ^@ NM_001080116.1(LDB3):c.756-11_756-10delCT http://identifiers.org/clinvar/43882 ^@ NM_001080116.1(LDB3):c.756-13_756-10delCTCT http://identifiers.org/clinvar/43883 ^@ NM_001080116.1(LDB3):c.756-15_756-10delCTCTCT http://identifiers.org/clinvar/43884 ^@ NM_007078.2(LDB3):c.896+6722G>A http://identifiers.org/clinvar/43885 ^@ NM_001080116.1(LDB3):c.775C>G (p.Arg259Gly) http://identifiers.org/clinvar/43886 ^@ NM_001080476.2(GRXCR1):c.140C>T (p.Ala47Val) http://identifiers.org/clinvar/43887 ^@ NM_001080476.2(GRXCR1):c.25G>A (p.Glu9Lys) http://identifiers.org/clinvar/43888 ^@ NM_001080476.2(GRXCR1):c.627+8A>C http://identifiers.org/clinvar/43889 ^@ NM_001080476.2(GRXCR1):c.777C>T (p.Ser259=) http://identifiers.org/clinvar/43890 ^@ NM_000501.3(ELN):c.427+8C>T http://identifiers.org/clinvar/43891 ^@ NM_001099404.1(SCN5A):c.3511+14C>A http://identifiers.org/clinvar/43892 ^@ NM_000335.4(SCN5A):c.3904C>A (p.Arg1302=) http://identifiers.org/clinvar/43893 ^@ NM_001103.3(ACTN2):c.1057C>T (p.Arg353Trp) http://identifiers.org/clinvar/43894 ^@ NM_001103.3(ACTN2):c.1089C>T (p.Ser363=) http://identifiers.org/clinvar/43895 ^@ NM_001103.3(ACTN2):c.1104G>A (p.Val368=) http://identifiers.org/clinvar/43896 ^@ NM_001103.3(ACTN2):c.1108-10A>G http://identifiers.org/clinvar/43897 ^@ NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) http://identifiers.org/clinvar/43898 ^@ NM_001103.3(ACTN2):c.1278G>A (p.Gln426=) http://identifiers.org/clinvar/43899 ^@ NM_001103.3(ACTN2):c.1296G>A (p.Ala432=) http://identifiers.org/clinvar/43900 ^@ NM_001103.3(ACTN2):c.1305A>G (p.Thr435=) http://identifiers.org/clinvar/43901 ^@ NM_001103.3(ACTN2):c.1338G>A (p.Ala446=) http://identifiers.org/clinvar/43902 ^@ NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) http://identifiers.org/clinvar/43903 ^@ NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) http://identifiers.org/clinvar/43904 ^@ NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) http://identifiers.org/clinvar/43905 ^@ NM_001103.3(ACTN2):c.1384G>T (p.Ala462Ser) http://identifiers.org/clinvar/43906 ^@ NM_001103.3(ACTN2):c.1406+8C>T http://identifiers.org/clinvar/43907 ^@ NM_001103.3(ACTN2):c.1411C>G (p.Leu471Val) http://identifiers.org/clinvar/43908 ^@ NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) http://identifiers.org/clinvar/43909 ^@ NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) http://identifiers.org/clinvar/43910 ^@ NM_001103.3(ACTN2):c.1476A>T (p.Arg492=) http://identifiers.org/clinvar/43911 ^@ NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) http://identifiers.org/clinvar/43912 ^@ NM_001103.3(ACTN2):c.1515+15C>T http://identifiers.org/clinvar/43913 ^@ NM_001103.3(ACTN2):c.1593G>A (p.Trp531Ter) http://identifiers.org/clinvar/43914 ^@ NM_001103.3(ACTN2):c.1714C>T (p.Arg572Trp) http://identifiers.org/clinvar/43915 ^@ NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) http://identifiers.org/clinvar/43916 ^@ NM_001103.3(ACTN2):c.1822C>T (p.Arg608Trp) http://identifiers.org/clinvar/43917 ^@ NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) http://identifiers.org/clinvar/43918 ^@ NM_001103.3(ACTN2):c.186C>T (p.Ile62=) http://identifiers.org/clinvar/43919 ^@ NM_001103.3(ACTN2):c.18C>T (p.Pro6=) http://identifiers.org/clinvar/43920 ^@ NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr) http://identifiers.org/clinvar/43921 ^@ NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) http://identifiers.org/clinvar/43922 ^@ NM_001103.3(ACTN2):c.2003C>G (p.Thr668Arg) http://identifiers.org/clinvar/43923 ^@ NM_001103.3(ACTN2):c.2052C>T (p.Asn684=) http://identifiers.org/clinvar/43924 ^@ NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) http://identifiers.org/clinvar/43925 ^@ NM_001103.3(ACTN2):c.2306A>C (p.Lys769Thr) http://identifiers.org/clinvar/43926 ^@ NM_001103.3(ACTN2):c.2323C>T (p.His775Tyr) http://identifiers.org/clinvar/43927 ^@ NM_001103.3(ACTN2):c.2367+5G>A http://identifiers.org/clinvar/43928 ^@ NM_001103.3(ACTN2):c.2386C>T (p.Arg796Cys) http://identifiers.org/clinvar/43929 ^@ NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) http://identifiers.org/clinvar/43930 ^@ NM_001103.3(ACTN2):c.2484C>T (p.Ala828=) http://identifiers.org/clinvar/43931 ^@ NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) http://identifiers.org/clinvar/43932 ^@ NM_001103.3(ACTN2):c.2587A>C (p.Ile863Leu) http://identifiers.org/clinvar/43933 ^@ NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) http://identifiers.org/clinvar/43934 ^@ NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) http://identifiers.org/clinvar/43935 ^@ NM_001103.3(ACTN2):c.2676C>T (p.Ser892=) http://identifiers.org/clinvar/43936 ^@ NM_001103.3(ACTN2):c.343G>A (p.Val115Met) http://identifiers.org/clinvar/43937 ^@ NM_001103.3(ACTN2):c.351C= (p.Ile117=) http://identifiers.org/clinvar/43938 ^@ NM_001103.3(ACTN2):c.378T= (p.Asn126=) http://identifiers.org/clinvar/43939 ^@ NM_001103.3(ACTN2):c.48G>A (p.Glu16=) http://identifiers.org/clinvar/43940 ^@ NM_001103.3(ACTN2):c.536+10C>T http://identifiers.org/clinvar/43941 ^@ NM_001103.3(ACTN2):c.578_583delACCGGC (p.His193_Arg194del) http://identifiers.org/clinvar/43942 ^@ NM_001103.3(ACTN2):c.690T>A (p.Asp230Glu) http://identifiers.org/clinvar/43943 ^@ NM_001103.3(ACTN2):c.705G>C (p.Val235=) http://identifiers.org/clinvar/43944 ^@ NM_001103.3(ACTN2):c.736A>G (p.Met246Val) http://identifiers.org/clinvar/43945 ^@ NM_001103.3(ACTN2):c.753C>T (p.Cys251=) http://identifiers.org/clinvar/43946 ^@ NM_001103.3(ACTN2):c.762C>T (p.His254=) http://identifiers.org/clinvar/43947 ^@ NM_001103.3(ACTN2):c.786C>T (p.Ala262=) http://identifiers.org/clinvar/43948 ^@ NM_001103.3(ACTN2):c.870G>A (p.Ala290=) http://identifiers.org/clinvar/43949 ^@ NM_001103.3(ACTN2):c.877-6G>A http://identifiers.org/clinvar/43950 ^@ NM_001103.3(ACTN2):c.877-8C>G http://identifiers.org/clinvar/43951 ^@ NM_001103.3(ACTN2):c.893G>A (p.Arg298His) http://identifiers.org/clinvar/43952 ^@ NM_001103.3(ACTN2):c.927C>T (p.Pro309=) http://identifiers.org/clinvar/43953 ^@ NM_001103.3(ACTN2):c.93C>T (p.Leu31=) http://identifiers.org/clinvar/43955 ^@ NM_001105208.2(LAMA4):c.326C>G (p.Ser109Ter) http://identifiers.org/clinvar/43956 ^@ NM_002294.2(LAMP2):c.*2746A>G http://identifiers.org/clinvar/43957 ^@ NM_001122606.1(LAMP2):c.1170A>C (p.Ile390=) http://identifiers.org/clinvar/43958 ^@ NM_000260.3(MYO7A):c.3474C>T (p.Ile1158=) http://identifiers.org/clinvar/43959 ^@ NM_001390.4(DTNA):c.1094+1403A>C http://identifiers.org/clinvar/43960 ^@ NM_001128228.2(TPRN):c.1748A>G (p.Lys583Arg) http://identifiers.org/clinvar/43961 ^@ NM_001128228.2(TPRN):c.1842_1844dupGGA (p.Glu621_Gly622insGlu) http://identifiers.org/clinvar/43962 ^@ NM_001134363.2(RBM20):c.-6C>T http://identifiers.org/clinvar/43963 ^@ NM_001134363.2(RBM20):c.1027C>T (p.His343Tyr) http://identifiers.org/clinvar/43964 ^@ NM_001134363.2(RBM20):c.1056C>G (p.Pro352=) http://identifiers.org/clinvar/43965 ^@ NM_001134363.2(RBM20):c.1080A>T (p.Thr360=) http://identifiers.org/clinvar/43966 ^@ NM_001134363.2(RBM20):c.1179C>T (p.Pro393=) http://identifiers.org/clinvar/43967 ^@ NM_001134363.2(RBM20):c.1209C>T (p.His403=) http://identifiers.org/clinvar/43968 ^@ NM_001134363.2(RBM20):c.1275+13A>G http://identifiers.org/clinvar/43969 ^@ NM_001134363.2(RBM20):c.1286T>C (p.Leu429Pro) http://identifiers.org/clinvar/43970 ^@ NM_001134363.2(RBM20):c.128_130dupAGC (p.Gln43_Pro44insGln) http://identifiers.org/clinvar/43971 ^@ NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) http://identifiers.org/clinvar/43972 ^@ NM_001134363.2(RBM20):c.1458C>T (p.Tyr486=) http://identifiers.org/clinvar/43973 ^@ NM_001134363.2(RBM20):c.1459G>A (p.Val487Met) http://identifiers.org/clinvar/43974 ^@ NM_001134363.2(RBM20):c.150A>T (p.Pro50=) http://identifiers.org/clinvar/43975 ^@ NM_001134363.2(RBM20):c.1527+8C>T http://identifiers.org/clinvar/43976 ^@ NM_001134363.2(RBM20):c.1633G>A (p.Val545Ile) http://identifiers.org/clinvar/43977 ^@ NM_001134363.2(RBM20):c.1801-11G>C http://identifiers.org/clinvar/43978 ^@ NM_001134363.2(RBM20):c.1880+4_1880+6dupAGG http://identifiers.org/clinvar/43979 ^@ NM_001134363.2(RBM20):c.1881-3C>T http://identifiers.org/clinvar/43980 ^@ NM_001134363.2(RBM20):c.1906C>T (p.Arg636Cys) http://identifiers.org/clinvar/43981 ^@ NM_001134363.2(RBM20):c.1914G>A (p.Pro638=) http://identifiers.org/clinvar/43982 ^@ NM_001134363.2(RBM20):c.1973C>G (p.Ser658Cys) http://identifiers.org/clinvar/43983 ^@ NM_001134363.2(RBM20):c.1992C>T (p.Pro664=) http://identifiers.org/clinvar/43984 ^@ NM_001134363.2(RBM20):c.2017C>T (p.Arg673Trp) http://identifiers.org/clinvar/43985 ^@ NM_001134363.2(RBM20):c.2108G>A (p.Arg703Lys) http://identifiers.org/clinvar/43986 ^@ NM_001134363.2(RBM20):c.2147G>A (p.Arg716Gln) http://identifiers.org/clinvar/43987 ^@ NM_001134363.2(RBM20):c.2213C>T (p.Pro738Leu) http://identifiers.org/clinvar/43988 ^@ NM_001134363.2(RBM20):c.2303C>T (p.Ser768Leu) http://identifiers.org/clinvar/43989 ^@ NM_001134363.2(RBM20):c.2333C>T (p.Ala778Val) http://identifiers.org/clinvar/43990 ^@ NM_001134363.2(RBM20):c.2452G>T (p.Ala818Ser) http://identifiers.org/clinvar/43991 ^@ NM_001134363.2(RBM20):c.2551G>A (p.Ala851Thr) http://identifiers.org/clinvar/43992 ^@ NM_001134363.2(RBM20):c.2565_2570delACAGGA (p.Gln856_Glu857del) http://identifiers.org/clinvar/43993 ^@ NM_001134363.2(RBM20):c.2655+15A>G http://identifiers.org/clinvar/43994 ^@ NM_001134363.2(RBM20):c.2723T>C (p.Leu908Pro) http://identifiers.org/clinvar/43995 ^@ NM_001134363.2(RBM20):c.2662G>A (p.Asp888Asn) http://identifiers.org/clinvar/43996 ^@ NM_001134363.2(RBM20):c.2664T>C (p.Asp888=) http://identifiers.org/clinvar/43997 ^@ NM_001134363.2(RBM20):c.2728A>C (p.Thr910Pro) http://identifiers.org/clinvar/43998 ^@ NM_001134363.2(RBM20):c.2737G>A (p.Glu913Lys) http://identifiers.org/clinvar/43999 ^@ NM_001134363.2(RBM20):c.2761A>G (p.Ile921Val) http://identifiers.org/clinvar/44000 ^@ NM_001134363.2(RBM20):c.2784G>A (p.Glu928=) http://identifiers.org/clinvar/44001 ^@ NM_001134363.2(RBM20):c.3022C>T (p.Arg1008Trp) http://identifiers.org/clinvar/44002 ^@ NM_001134363.2(RBM20):c.313C>T (p.Leu105=) http://identifiers.org/clinvar/44003 ^@ NM_001134363.2(RBM20):c.3144C>T (p.Ser1048=) http://identifiers.org/clinvar/44004 ^@ NM_001134363.2(RBM20):c.3170G>A (p.Arg1057Gln) http://identifiers.org/clinvar/44005 ^@ NM_001134363.2(RBM20):c.3183A>G (p.Pro1061=) http://identifiers.org/clinvar/44006 ^@ NM_001134363.2(RBM20):c.3265C>G (p.Pro1089Ala) http://identifiers.org/clinvar/44007 ^@ NM_001134363.2(RBM20):c.3366G>A (p.Glu1122=) http://identifiers.org/clinvar/44008 ^@ NM_001134363.2(RBM20):c.3372T>C (p.Thr1124=) http://identifiers.org/clinvar/44009 ^@ NM_001134363.2(RBM20):c.3373G>A (p.Glu1125Lys) http://identifiers.org/clinvar/44010 ^@ NM_001134363.2(RBM20):c.3451+15_3451+16delCA http://identifiers.org/clinvar/44011 ^@ NM_001134363.2(RBM20):c.3452-10C>T http://identifiers.org/clinvar/44012 ^@ NM_001134363.2(RBM20):c.3452-9G>C http://identifiers.org/clinvar/44013 ^@ NM_001134363.2(RBM20):c.3574-7T>G http://identifiers.org/clinvar/44014 ^@ NM_001134363.2(RBM20):c.3603C>G (p.Gly1201=) http://identifiers.org/clinvar/44015 ^@ NM_001134363.2(RBM20):c.3623C>T (p.Ala1208Val) http://identifiers.org/clinvar/44016 ^@ NM_001134363.2(RBM20):c.3667G>C (p.Glu1223Gln) http://identifiers.org/clinvar/44017 ^@ NM_001134363.2(RBM20):c.441C>A (p.His147Gln) http://identifiers.org/clinvar/44018 ^@ NM_001134363.2(RBM20):c.448G>A (p.Ala150Thr) http://identifiers.org/clinvar/44019 ^@ NM_001134363.2(RBM20):c.465T>C (p.His155=) http://identifiers.org/clinvar/44020 ^@ NM_001134363.2(RBM20):c.517C>A (p.Pro173Thr) http://identifiers.org/clinvar/44021 ^@ NM_001134363.2(RBM20):c.529A>T (p.Thr177Ser) http://identifiers.org/clinvar/44022 ^@ NM_001134363.2(RBM20):c.544C>A (p.Pro182Thr) http://identifiers.org/clinvar/44023 ^@ NM_001134363.2(RBM20):c.530C>G (p.Thr177Arg) http://identifiers.org/clinvar/44024 ^@ NM_001134363.2(RBM20):c.530C>T (p.Thr177Ile) http://identifiers.org/clinvar/44025 ^@ NM_001134363.2(RBM20):c.695G>A (p.Gly232Asp) http://identifiers.org/clinvar/44026 ^@ NM_001134363.2(RBM20):c.746G>T (p.Gly249Val) http://identifiers.org/clinvar/44027 ^@ NM_001134363.2(RBM20):c.831C>G (p.Ala277=) http://identifiers.org/clinvar/44028 ^@ NM_001134363.2(RBM20):c.850G>A (p.Gly284Arg) http://identifiers.org/clinvar/44029 ^@ NM_001134363.2(RBM20):c.90G>A (p.Arg30=) http://identifiers.org/clinvar/44030 ^@ NM_001134363.2(RBM20):c.925G>A (p.Gly309Arg) http://identifiers.org/clinvar/44031 ^@ NM_033056.3(PCDH15):c.1306-4123C>T http://identifiers.org/clinvar/44032 ^@ NM_001142769.1(PCDH15):c.4555A>G (p.Ile1519Val) http://identifiers.org/clinvar/44033 ^@ NM_001142769.1(PCDH15):c.4623A>C (p.Thr1541=) http://identifiers.org/clinvar/44034 ^@ NM_001142769.1(PCDH15):c.4673_4676delTTAG (p.Val1558Glufs) http://identifiers.org/clinvar/44035 ^@ NM_001142769.1(PCDH15):c.4853A>C (p.Glu1618Ala) http://identifiers.org/clinvar/44036 ^@ NM_001142769.1(PCDH15):c.5236G>A (p.Gly1746Ser) http://identifiers.org/clinvar/44037 ^@ NM_001142769.1(PCDH15):c.5298G>A (p.Ala1766=) http://identifiers.org/clinvar/44038 ^@ NM_001145308.4(LRTOMT):c.222A>G (p.Ser74=) http://identifiers.org/clinvar/44039 ^@ NM_001145308.4(LRTOMT):c.352G>A (p.Val118Ile) http://identifiers.org/clinvar/44040 ^@ NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) http://identifiers.org/clinvar/44041 ^@ NM_001145308.4(LRTOMT):c.672C>G (p.Asp224Glu) http://identifiers.org/clinvar/44042 ^@ NM_001145309.3(LRTOMT):c.69G>C (p.Leu23=) http://identifiers.org/clinvar/44043 ^@ NM_024729.3(MYH14):c.1000C>G (p.Pro334Ala) http://identifiers.org/clinvar/44044 ^@ NM_001145809.1(MYH14):c.1114+13C>T http://identifiers.org/clinvar/44045 ^@ NM_001145809.1(MYH14):c.1115-4C>T http://identifiers.org/clinvar/44046 ^@ NM_001145809.1(MYH14):c.1149T>C (p.Phe383=) http://identifiers.org/clinvar/44047 ^@ NM_001145809.1(MYH14):c.1275C>T (p.Thr425=) http://identifiers.org/clinvar/44048 ^@ NM_001145809.1(MYH14):c.1382G>A (p.Arg461His) http://identifiers.org/clinvar/44049 ^@ NM_001145809.1(MYH14):c.1483-10G>A http://identifiers.org/clinvar/44050 ^@ NM_001145809.1(MYH14):c.1755C>T (p.Gly585=) http://identifiers.org/clinvar/44051 ^@ NM_024729.3(MYH14):c.1866C>T (p.Val622=) http://identifiers.org/clinvar/44052 ^@ NM_001145809.1(MYH14):c.192G>T (p.Gly64=) http://identifiers.org/clinvar/44053 ^@ NM_001145809.1(MYH14):c.1992G>A (p.Pro664=) http://identifiers.org/clinvar/44054 ^@ NM_001145809.1(MYH14):c.2041G>C (p.Gly681Arg) http://identifiers.org/clinvar/44055 ^@ NM_001145809.1(MYH14):c.2205C>G (p.Arg735=) http://identifiers.org/clinvar/44056 ^@ NM_001145809.1(MYH14):c.2250A>G (p.Pro750=) http://identifiers.org/clinvar/44057 ^@ NM_001145809.1(MYH14):c.2355-14C>T http://identifiers.org/clinvar/44058 ^@ NM_024729.3(MYH14):c.2236G>A (p.Glu746Lys) http://identifiers.org/clinvar/44059 ^@ NM_001145809.1(MYH14):c.2792G>A (p.Arg931His) http://identifiers.org/clinvar/44060 ^@ NM_001145809.1(MYH14):c.2827-9A>C http://identifiers.org/clinvar/44061 ^@ NM_024729.3(MYH14):c.2718C>T (p.Arg906=) http://identifiers.org/clinvar/44062 ^@ NM_001145809.1(MYH14):c.3018G>A (p.Leu1006=) http://identifiers.org/clinvar/44063 ^@ NM_001145809.1(MYH14):c.3033+11T>C http://identifiers.org/clinvar/44064 ^@ NM_001145809.1(MYH14):c.3304C>T (p.Arg1102Trp) http://identifiers.org/clinvar/44065 ^@ NM_001145809.1(MYH14):c.33G>C (p.Arg11=) http://identifiers.org/clinvar/44066 ^@ NM_001077186.1(MYH14):c.3369-3C>T http://identifiers.org/clinvar/44067 ^@ NM_001145809.1(MYH14):c.3680+9C>T http://identifiers.org/clinvar/44068 ^@ NM_024729.3(MYH14):c.3626C>A (p.Ala1209Glu) http://identifiers.org/clinvar/44069 ^@ NM_024729.3(MYH14):c.3655G>A (p.Gly1219Ser) http://identifiers.org/clinvar/44070 ^@ NM_001145809.1(MYH14):c.4741G>A (p.Val1581Ile) http://identifiers.org/clinvar/44071 ^@ NM_001145809.1(MYH14):c.474T>C (p.Ile158=) http://identifiers.org/clinvar/44072 ^@ NM_001145809.1(MYH14):c.4753-9C>T http://identifiers.org/clinvar/44073 ^@ NM_024729.3(MYH14):c.483G>A (p.Met161Ile) http://identifiers.org/clinvar/44074 ^@ NM_001145809.1(MYH14):c.5271G>A (p.Ser1757=) http://identifiers.org/clinvar/44075 ^@ NM_001145809.1(MYH14):c.5430G>A (p.Ser1810=) http://identifiers.org/clinvar/44076 ^@ NM_001145809.1(MYH14):c.5868C>T (p.Ala1956=) http://identifiers.org/clinvar/44077 ^@ NM_001145809.1(MYH14):c.5876G>A (p.Arg1959Gln) http://identifiers.org/clinvar/44078 ^@ NM_024729.3(MYH14):c.5889A>T (p.Leu1963=) http://identifiers.org/clinvar/44079 ^@ NM_001145809.1(MYH14):c.657G>A (p.Ala219=) http://identifiers.org/clinvar/44080 ^@ NM_001145809.1(MYH14):c.810C>T (p.Phe270=) http://identifiers.org/clinvar/44081 ^@ NM_001145809.1(MYH14):c.91C>A (p.Pro31Thr) http://identifiers.org/clinvar/44082 ^@ NM_004085.3(TIMM8A):c.132+158A>G http://identifiers.org/clinvar/44083 ^@ NM_001146077.1(CLDN14):c.11C>T (p.Thr4Met) http://identifiers.org/clinvar/44084 ^@ NM_001146077.1(CLDN14):c.243C>T (p.Arg81=) http://identifiers.org/clinvar/44085 ^@ NM_001146077.1(CLDN14):c.621C>T (p.Thr207=) http://identifiers.org/clinvar/44086 ^@ NM_001146077.1(CLDN14):c.633C>T (p.Tyr211=) http://identifiers.org/clinvar/44087 ^@ NM_001146077.1(CLDN14):c.63G>A (p.Thr21=) http://identifiers.org/clinvar/44088 ^@ NM_001146077.1(CLDN14):c.687G>A (p.Thr229=) http://identifiers.org/clinvar/44089 ^@ NM_001146077.1(CLDN14):c.690C>T (p.His230=) http://identifiers.org/clinvar/44090 ^@ NM_004817.3(TJP2):c.1137A>G (p.Leu379=) http://identifiers.org/clinvar/44091 ^@ NM_004817.3(TJP2):c.1446C>A (p.Asp482Glu) http://identifiers.org/clinvar/44092 ^@ NM_004817.3(TJP2):c.1478G>A (p.Arg493Lys) http://identifiers.org/clinvar/44093 ^@ NM_004817.3(TJP2):c.1877C>G (p.Thr626Ser) http://identifiers.org/clinvar/44094 ^@ NM_004817.3(TJP2):c.1917C>T (p.Asp639=) http://identifiers.org/clinvar/44095 ^@ NM_004817.3(TJP2):c.2004G>A (p.Met668Ile) http://identifiers.org/clinvar/44096 ^@ NM_004817.3(TJP2):c.2040G>A (p.Gly680=) http://identifiers.org/clinvar/44097 ^@ NM_004817.3(TJP2):c.297G>A (p.Ser99=) http://identifiers.org/clinvar/44098 ^@ NM_004817.3(TJP2):c.2646G>A (p.Ala882=) http://identifiers.org/clinvar/44099 ^@ NM_004817.3(TJP2):c.3495G>A (p.Glu1165=) http://identifiers.org/clinvar/44100 ^@ NM_004817.3(TJP2):c.382C>A (p.Gln128Lys) http://identifiers.org/clinvar/44101 ^@ NM_004817.3(TJP2):c.904C>T (p.Arg302Trp) http://identifiers.org/clinvar/44102 ^@ NM_004817.3(TJP2):c.918C>T (p.Ile306=) http://identifiers.org/clinvar/44103 ^@ NM_004817.3(TJP2):c.1035C>A (p.His345Gln) http://identifiers.org/clinvar/44104 ^@ NM_001170415.1(TJP2):c.71G>A (p.Arg24His) http://identifiers.org/clinvar/44105 ^@ NM_004817.3(TJP2):c.2715C>T (p.Thr905=) http://identifiers.org/clinvar/44106 ^@ NM_004817.3(TJP2):c.2727G>A (p.Ala909=) http://identifiers.org/clinvar/44107 ^@ NM_004817.3(TJP2):c.2778C>T (p.Asp926=) http://identifiers.org/clinvar/44108 ^@ NM_004817.3(TJP2):c.2880+72G>A http://identifiers.org/clinvar/44109 ^@ NM_004817.3(TJP2):c.2880+95A>G http://identifiers.org/clinvar/44110 ^@ NM_022124.5(CDH23):c.2970C>T (p.Asp990=) http://identifiers.org/clinvar/44111 ^@ NM_022124.5(CDH23):c.3009T>C (p.Ser1003=) http://identifiers.org/clinvar/44112 ^@ NM_022124.5(CDH23):c.1038G>A (p.Pro346=) http://identifiers.org/clinvar/44113 ^@ NM_022124.5(CDH23):c.1053C>T (p.Ser351=) http://identifiers.org/clinvar/44114 ^@ NM_022124.5(CDH23):c.1096G>A (p.Ala366Thr) http://identifiers.org/clinvar/44115 ^@ NM_022124.5(CDH23):c.1134+13A>G http://identifiers.org/clinvar/44116 ^@ NM_022124.5(CDH23):c.1134+22C>T http://identifiers.org/clinvar/44117 ^@ NM_198080.3(MSRB3):c.314-6T>C http://identifiers.org/clinvar/44118 ^@ NM_198080.3(MSRB3):c.378T>C (p.Tyr126=) http://identifiers.org/clinvar/44119 ^@ NM_001195263.1(PDZD7):c.1613G>A (p.Gly538Glu) http://identifiers.org/clinvar/44120 ^@ NM_001195263.1(PDZD7):c.2049G>A (p.Pro683=) http://identifiers.org/clinvar/44121 ^@ NM_001195263.1(PDZD7):c.2107delA (p.Ser703Valfs) http://identifiers.org/clinvar/44122 ^@ NM_001195263.1(PDZD7):c.2132A>G (p.His711Arg) http://identifiers.org/clinvar/44123 ^@ NM_001195263.1(PDZD7):c.2144C>T (p.Pro715Leu) http://identifiers.org/clinvar/44124 ^@ NM_001195263.1(PDZD7):c.2319T>C (p.Arg773=) http://identifiers.org/clinvar/44125 ^@ NM_001195263.1(PDZD7):c.2319_2336del18 (p.Arg779_Ser784del) http://identifiers.org/clinvar/44126 ^@ NM_001195263.1(PDZD7):c.2347_2352dupCGCAGC (p.Ser784_Ser785insArgSer) http://identifiers.org/clinvar/44127 ^@ NM_001195263.1(PDZD7):c.2368A>G (p.Lys790Glu) http://identifiers.org/clinvar/44128 ^@ NM_001195263.1(PDZD7):c.2411C>T (p.Ala804Val) http://identifiers.org/clinvar/44129 ^@ NM_001195263.1(PDZD7):c.2564A>C (p.Asn855Thr) http://identifiers.org/clinvar/44130 ^@ NM_001195291.2(SERPINB6):c.1048G>A (p.Val350Ile) http://identifiers.org/clinvar/44131 ^@ NM_001195263.1(PDZD7):c.2675_2677delAGA (p.Lys892del) http://identifiers.org/clinvar/44132 ^@ NM_004568.5(SERPINB6):c.268A>G (p.Met90Val) http://identifiers.org/clinvar/44133 ^@ NM_001195291.2(SERPINB6):c.355C>G (p.Gln119Glu) http://identifiers.org/clinvar/44134 ^@ NM_001195291.2(SERPINB6):c.469G>A (p.Gly157Ser) http://identifiers.org/clinvar/44135 ^@ NM_004568.5(SERPINB6):c.54G>A (p.Thr18=) http://identifiers.org/clinvar/44136 ^@ NM_001199799.1(ILDR1):c.1162T>C (p.Trp388Arg) http://identifiers.org/clinvar/44137 ^@ NM_001199799.1(ILDR1):c.1238T>C (p.Ile413Thr) http://identifiers.org/clinvar/44138 ^@ NM_001199799.1(ILDR1):c.1298G>A (p.Arg433Gln) http://identifiers.org/clinvar/44139 ^@ NM_001199799.1(ILDR1):c.1325G>A (p.Arg442His) http://identifiers.org/clinvar/44140 ^@ NM_001199799.1(ILDR1):c.1498C>T (p.His500Tyr) http://identifiers.org/clinvar/44141 ^@ NM_001199799.1(ILDR1):c.1545T>G (p.Leu515=) http://identifiers.org/clinvar/44142 ^@ NM_001199799.1(ILDR1):c.1581G>A (p.Gly527=) http://identifiers.org/clinvar/44143 ^@ NM_001199799.1(ILDR1):c.726G>A (p.Ala242=) http://identifiers.org/clinvar/44144 ^@ NM_001199799.1(ILDR1):c.762C>T (p.His254=) http://identifiers.org/clinvar/44145 ^@ NM_001199799.1(ILDR1):c.791C>G (p.Pro264Arg) http://identifiers.org/clinvar/44146 ^@ NM_001614.3(ACTG1):c.177G>A (p.Gln59=) http://identifiers.org/clinvar/44147 ^@ NM_001614.3(ACTG1):c.363+13C>A http://identifiers.org/clinvar/44148 ^@ NM_001614.3(ACTG1):c.471C>T (p.Asp157=) http://identifiers.org/clinvar/44149 ^@ NM_001614.3(ACTG1):c.531T>C (p.Arg177=) http://identifiers.org/clinvar/44150 ^@ NM_001614.3(ACTG1):c.918C>T (p.Tyr306=) http://identifiers.org/clinvar/44151 ^@ NM_001614.3(ACTG1):c.930C>T (p.Ala310=) http://identifiers.org/clinvar/44152 ^@ NM_001232.3(CASQ2):c.1005T>C (p.Asn335=) http://identifiers.org/clinvar/44153 ^@ NM_001232.3(CASQ2):c.1014+9C>T http://identifiers.org/clinvar/44154 ^@ NM_001232.3(CASQ2):c.1090dupG (p.Asp364Glyfs) http://identifiers.org/clinvar/44155 ^@ NM_001232.3(CASQ2):c.1147_1149delGAT (p.Asp383del) http://identifiers.org/clinvar/44156 ^@ NM_001232.3(CASQ2):c.1148A>G (p.Asp383Gly) http://identifiers.org/clinvar/44157 ^@ NM_001232.3(CASQ2):c.1185C>T (p.Asp395=) http://identifiers.org/clinvar/44158 ^@ NM_001232.3(CASQ2):c.1185_1187delCGA (p.Asp398del) http://identifiers.org/clinvar/44159 ^@ NM_001232.3(CASQ2):c.1194T>C (p.Asp398=) http://identifiers.org/clinvar/44160 ^@ NM_001232.3(CASQ2):c.196A>G (p.Thr66Ala) http://identifiers.org/clinvar/44161 ^@ NM_001232.3(CASQ2):c.198G>A (p.Thr66=) http://identifiers.org/clinvar/44162 ^@ NM_001232.3(CASQ2):c.226G>A (p.Val76Met) http://identifiers.org/clinvar/44163 ^@ NM_001232.3(CASQ2):c.420+6T>C http://identifiers.org/clinvar/44164 ^@ NM_001232.3(CASQ2):c.421-14G>A http://identifiers.org/clinvar/44165 ^@ NM_001232.3(CASQ2):c.421-15C>G http://identifiers.org/clinvar/44166 ^@ NM_001232.3(CASQ2):c.421-15C>T http://identifiers.org/clinvar/44167 ^@ NM_001232.3(CASQ2):c.481A>G (p.Ile161Val) http://identifiers.org/clinvar/44168 ^@ NM_001232.3(CASQ2):c.781T>C (p.Trp261Arg) http://identifiers.org/clinvar/44169 ^@ NM_001232.3(CASQ2):c.578_580delTCAinsAC (p.Ile193Asnfs) http://identifiers.org/clinvar/44171 ^@ NM_001330.3(CTF1):c.*5C>A http://identifiers.org/clinvar/44172 ^@ NM_001330.3(CTF1):c.120C>T (p.Tyr40=) http://identifiers.org/clinvar/44173 ^@ NM_001330.3(CTF1):c.144+7G>T http://identifiers.org/clinvar/44174 ^@ NM_001330.3(CTF1):c.145-10G>A http://identifiers.org/clinvar/44175 ^@ NM_001330.3(CTF1):c.145-13C>T http://identifiers.org/clinvar/44176 ^@ NM_001330.3(CTF1):c.25+6G>C http://identifiers.org/clinvar/44177 ^@ NM_001330.3(CTF1):c.274G>A (p.Ala92Thr) http://identifiers.org/clinvar/44178 ^@ NM_001330.3(CTF1):c.280C>T (p.Leu94=) http://identifiers.org/clinvar/44179 ^@ NM_001330.3(CTF1):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/44180 ^@ NM_001330.3(CTF1):c.468C>T (p.Ala156=) http://identifiers.org/clinvar/44181 ^@ NM_001330.3(CTF1):c.546C>T (p.Arg182=) http://identifiers.org/clinvar/44182 ^@ NM_001330.3(CTF1):c.591C>G (p.Pro197=) http://identifiers.org/clinvar/44183 ^@ NM_001399.4(EDA):c.1070G>C (p.Arg357Pro) http://identifiers.org/clinvar/44184 ^@ NM_001399.4(EDA):c.1087A>G (p.Lys363Glu) http://identifiers.org/clinvar/44185 ^@ NM_001399.4(EDA):c.1094T>C (p.Val365Ala) http://identifiers.org/clinvar/44186 ^@ NM_001399.4(EDA):c.1151G>C (p.Arg384Thr) http://identifiers.org/clinvar/44187 ^@ NM_001399.4(EDA):c.272dupG (p.Ser91Argfs) http://identifiers.org/clinvar/44188 ^@ NM_001399.4(EDA):c.164T>A (p.Leu55Gln) http://identifiers.org/clinvar/44189 ^@ NM_001399.4(EDA):c.173_175delTGT (p.Leu58del) http://identifiers.org/clinvar/44190 ^@ NM_001399.4(EDA):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/44191 ^@ NM_001399.4(EDA):c.329C>A (p.Ser110Ter) http://identifiers.org/clinvar/44192 ^@ NM_001399.4(EDA):c.347T>A (p.Leu116Ter) http://identifiers.org/clinvar/44193 ^@ NM_001399.4(EDA):c.457C>T (p.Arg153Cys) http://identifiers.org/clinvar/44194 ^@ NM_001399.4(EDA):c.467G>T (p.Arg156Leu) http://identifiers.org/clinvar/44195 ^@ NM_001399.4(EDA):c.491A>C (p.Glu164Ala) http://identifiers.org/clinvar/44196 ^@ NM_001399.4(EDA):c.526+5G>T http://identifiers.org/clinvar/44197 ^@ NM_001399.4(EDA):c.546_581del36 (p.Asn185_Pro196del) http://identifiers.org/clinvar/44198 ^@ NM_001399.4(EDA):c.553_588del36 (p.Asn185_Pro196del) http://identifiers.org/clinvar/44199 ^@ NM_001399.4(EDA):c.562_589del28 (p.Pro188Argfs) http://identifiers.org/clinvar/44200 ^@ NM_001399.4(EDA):c.572_589del18 (p.Pro191_Pro196del) http://identifiers.org/clinvar/44201 ^@ NM_001399.4(EDA):c.599C>A (p.Pro200Gln) http://identifiers.org/clinvar/44202 ^@ NM_001399.4(EDA):c.663_697del35 (p.Pro222Thrfs) http://identifiers.org/clinvar/44203 ^@ NM_001399.4(EDA):c.607C>T (p.Pro203Ser) http://identifiers.org/clinvar/44204 ^@ NM_001399.4(EDA):c.706+11_706+12delCT http://identifiers.org/clinvar/44205 ^@ NM_001399.4(EDA):c.730C>T (p.Arg244Ter) http://identifiers.org/clinvar/44206 ^@ NM_001399.4(EDA):c.740A>G (p.Gln247Arg) http://identifiers.org/clinvar/44207 ^@ NM_001399.4(EDA):c.742-11C>T http://identifiers.org/clinvar/44208 ^@ NM_001399.4(EDA):c.793G>A (p.Asp265Asn) http://identifiers.org/clinvar/44209 ^@ NM_001399.4(EDA):c.822G>T (p.Trp274Cys) http://identifiers.org/clinvar/44210 ^@ NM_001399.4(EDA):c.822delG (p.Trp274Cysfs) http://identifiers.org/clinvar/44211 ^@ NM_001399.4(EDA):c.871G>A (p.Gly291Arg) http://identifiers.org/clinvar/44212 ^@ NM_001399.4(EDA):c.881A>T (p.Glu294Val) http://identifiers.org/clinvar/44213 ^@ NM_001399.4(EDA):c.895G>A (p.Gly299Ser) http://identifiers.org/clinvar/44214 ^@ NM_001613.2(ACTA2):c.338A>C (p.Asn113Thr) http://identifiers.org/clinvar/44215 ^@ NM_001399.4(EDA):c.902A>G (p.Tyr301Cys) http://identifiers.org/clinvar/44216 ^@ NM_001399.4(EDA):c.961G>T (p.Glu321Ter) http://identifiers.org/clinvar/44217 ^@ NM_001141945.1(ACTA2):c.419C>T (p.Ala140Val) http://identifiers.org/clinvar/44218 ^@ NM_001613.2(ACTA2):c.607G>A (p.Val203Ile) http://identifiers.org/clinvar/44219 ^@ NM_001613.2(ACTA2):c.635G>A (p.Arg212Gln) http://identifiers.org/clinvar/44220 ^@ NM_001692.3(ATP6V1B1):c.*12G>A http://identifiers.org/clinvar/44221 ^@ NM_001692.3(ATP6V1B1):c.*6C>A http://identifiers.org/clinvar/44222 ^@ NM_001692.3(ATP6V1B1):c.1002C>T (p.Arg334=) http://identifiers.org/clinvar/44223 ^@ NM_001692.3(ATP6V1B1):c.1248+9A>G http://identifiers.org/clinvar/44224 ^@ NM_001692.3(ATP6V1B1):c.1298T>C (p.Val433Ala) http://identifiers.org/clinvar/44225 ^@ NM_001692.3(ATP6V1B1):c.138C>T (p.Ser46=) http://identifiers.org/clinvar/44226 ^@ NM_001692.3(ATP6V1B1):c.264G>A (p.Ala88=) http://identifiers.org/clinvar/44227 ^@ NM_001692.3(ATP6V1B1):c.27T>C (p.Pro9=) http://identifiers.org/clinvar/44228 ^@ NM_001692.3(ATP6V1B1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/44229 ^@ NM_001692.3(ATP6V1B1):c.481G>A (p.Glu161Lys) http://identifiers.org/clinvar/44230 ^@ NM_001692.3(ATP6V1B1):c.654C>T (p.Asp218=) http://identifiers.org/clinvar/44231 ^@ NM_001692.3(ATP6V1B1):c.89C>T (p.Thr30Ile) http://identifiers.org/clinvar/44232 ^@ NM_001885.2(CRYAB):c.152C>T (p.Pro51Leu) http://identifiers.org/clinvar/44233 ^@ NM_001885.2(CRYAB):c.165G>A (p.Leu55=) http://identifiers.org/clinvar/44234 ^@ NM_001885.2(CRYAB):c.324+4T>G http://identifiers.org/clinvar/44235 ^@ NM_001885.2(CRYAB):c.325-2A>G http://identifiers.org/clinvar/44236 ^@ NM_001885.2(CRYAB):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/44237 ^@ NM_001888.4(CRYM):c.325-12T>C http://identifiers.org/clinvar/44238 ^@ NM_001885.2(CRYAB):c.487C>T (p.Arg163Cys) http://identifiers.org/clinvar/44239 ^@ NM_001885.2(CRYAB):c.60C>T (p.Pro20=) http://identifiers.org/clinvar/44240 ^@ NM_001888.4(CRYM):c.490-12C>T http://identifiers.org/clinvar/44241 ^@ NM_001888.4(CRYM):c.864C>G (p.Thr288=) http://identifiers.org/clinvar/44242 ^@ NM_001927.3(DES):c.1014G>C (p.Leu338=) http://identifiers.org/clinvar/44243 ^@ NM_001927.3(DES):c.1026C>T (p.Asn342=) http://identifiers.org/clinvar/44244 ^@ NM_001927.3(DES):c.1048C>T (p.Arg350Trp) http://identifiers.org/clinvar/44245 ^@ NM_001927.3(DES):c.1104G>A (p.Ala368=) http://identifiers.org/clinvar/44246 ^@ NM_001927.3(DES):c.114G>A (p.Ala38=) http://identifiers.org/clinvar/44247 ^@ NM_001927.3(DES):c.114G>T (p.Ala38=) http://identifiers.org/clinvar/44248 ^@ NM_001927.3(DES):c.1226T>C (p.Leu409Pro) http://identifiers.org/clinvar/44249 ^@ NM_001927.3(DES):c.1260C>T (p.Ile420=) http://identifiers.org/clinvar/44250 ^@ NM_001927.3(DES):c.127A>G (p.Lys43Glu) http://identifiers.org/clinvar/44251 ^@ NM_001927.3(DES):c.1366G>A (p.Gly456Arg) http://identifiers.org/clinvar/44252 ^@ NM_001927.3(DES):c.1375G>A (p.Val459Ile) http://identifiers.org/clinvar/44253 ^@ NM_001927.3(DES):c.1404A>G (p.Glu468=) http://identifiers.org/clinvar/44254 ^@ NM_001927.3(DES):c.170C>T (p.Ser57Leu) http://identifiers.org/clinvar/44255 ^@ NM_001927.3(DES):c.18G>A (p.Ser6=) http://identifiers.org/clinvar/44256 ^@ NM_001927.3(DES):c.193G>A (p.Gly65Ser) http://identifiers.org/clinvar/44257 ^@ NM_001927.3(DES):c.282C>G (p.Ala94=) http://identifiers.org/clinvar/44258 ^@ NM_001927.3(DES):c.372G>A (p.Glu124=) http://identifiers.org/clinvar/44259 ^@ NM_001927.3(DES):c.380G>C (p.Arg127Pro) http://identifiers.org/clinvar/44260 ^@ NM_001927.3(DES):c.38C>T (p.Ser13Phe) http://identifiers.org/clinvar/44261 ^@ NM_001927.3(DES):c.407T>A (p.Leu136His) http://identifiers.org/clinvar/44262 ^@ NM_001927.3(DES):c.408C>T (p.Leu136=) http://identifiers.org/clinvar/44263 ^@ NM_001927.3(DES):c.578+11G>A http://identifiers.org/clinvar/44264 ^@ NM_001927.3(DES):c.582G>A (p.Leu194=) http://identifiers.org/clinvar/44265 ^@ NM_001927.3(DES):c.638C>T (p.Ala213Val) http://identifiers.org/clinvar/44266 ^@ NM_001927.3(DES):c.642C>T (p.Asp214=) http://identifiers.org/clinvar/44267 ^@ NM_001927.3(DES):c.709G>A (p.Ala237Thr) http://identifiers.org/clinvar/44268 ^@ NM_001927.3(DES):c.735+1G>A http://identifiers.org/clinvar/44269 ^@ NM_001927.3(DES):c.735+20C>T http://identifiers.org/clinvar/44270 ^@ NM_001927.3(DES):c.785A>T (p.Glu262Val) http://identifiers.org/clinvar/44271 ^@ NM_001927.3(DES):c.792C>T (p.Asp264=) http://identifiers.org/clinvar/44272 ^@ NM_001927.3(DES):c.828C>T (p.Asp276=) http://identifiers.org/clinvar/44273 ^@ NM_001927.3(DES):c.897+4_897+5delGG http://identifiers.org/clinvar/44274 ^@ NM_001927.3(DES):c.934G>A (p.Asp312Asn) http://identifiers.org/clinvar/44275 ^@ NM_001927.3(DES):c.935A>C (p.Asp312Ala) http://identifiers.org/clinvar/44276 ^@ NM_001927.3(DES):c.980A>C (p.Gln327Pro) http://identifiers.org/clinvar/44277 ^@ NM_001943.4(DSG2):c.1051A>G (p.Ser351Gly) http://identifiers.org/clinvar/44278 ^@ NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) http://identifiers.org/clinvar/44279 ^@ NM_001943.4(DSG2):c.1204G>A (p.Asp402Asn) http://identifiers.org/clinvar/44282 ^@ NM_001943.4(DSG2):c.152G>T (p.Trp51Leu) http://identifiers.org/clinvar/44283 ^@ NM_001943.4(DSG2):c.1592T>G (p.Phe531Cys) http://identifiers.org/clinvar/44284 ^@ NM_001943.4(DSG2):c.1652-12C>T http://identifiers.org/clinvar/44286 ^@ NM_001943.4(DSG2):c.1773_1774delTG (p.Cys591Terfs) http://identifiers.org/clinvar/44287 ^@ NM_001943.4(DSG2):c.1781T>C (p.Leu594Pro) http://identifiers.org/clinvar/44288 ^@ NM_001943.4(DSG2):c.1837G>A (p.Ala613Thr) http://identifiers.org/clinvar/44289 ^@ NM_001943.4(DSG2):c.1851C>T (p.Leu617=) http://identifiers.org/clinvar/44290 ^@ NM_001943.4(DSG2):c.1875G>C (p.Leu625=) http://identifiers.org/clinvar/44292 ^@ NM_001943.4(DSG2):c.1911C>T (p.Cys637=) http://identifiers.org/clinvar/44293 ^@ NM_001943.4(DSG2):c.1914A>G (p.Gly638=) http://identifiers.org/clinvar/44294 ^@ NM_001943.4(DSG2):c.2100C>T (p.Ser700=) http://identifiers.org/clinvar/44295 ^@ NM_001943.4(DSG2):c.2137G>A (p.Glu713Lys) http://identifiers.org/clinvar/44296 ^@ NM_001943.4(DSG2):c.217-5G>T http://identifiers.org/clinvar/44297 ^@ NM_001943.4(DSG2):c.2211C>T (p.Gly737=) http://identifiers.org/clinvar/44298 ^@ NM_001943.4(DSG2):c.2212G>A (p.Ala738Thr) http://identifiers.org/clinvar/44299 ^@ NM_001943.4(DSG2):c.222T>C (p.His74=) http://identifiers.org/clinvar/44300 ^@ NM_001943.4(DSG2):c.2318G>A (p.Arg773Lys) http://identifiers.org/clinvar/44302 ^@ NM_001943.4(DSG2):c.2505A>G (p.Thr835=) http://identifiers.org/clinvar/44303 ^@ NM_001943.4(DSG2):c.2586T>C (p.Ser862=) http://identifiers.org/clinvar/44304 ^@ NM_001943.4(DSG2):c.2587A>C (p.Met863Leu) http://identifiers.org/clinvar/44305 ^@ NM_001943.4(DSG2):c.2643C>T (p.Thr881=) http://identifiers.org/clinvar/44306 ^@ NM_001943.4(DSG2):c.266A>G (p.Tyr89Cys) http://identifiers.org/clinvar/44307 ^@ NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) http://identifiers.org/clinvar/44308 ^@ NM_001943.4(DSG2):c.2886T>G (p.Ile962Met) http://identifiers.org/clinvar/44309 ^@ NM_001943.4(DSG2):c.3040G>A (p.Val1014Ile) http://identifiers.org/clinvar/44310 ^@ NM_001943.4(DSG2):c.3061_3062delAG (p.Ser1021Leufs) http://identifiers.org/clinvar/44311 ^@ NM_001943.4(DSG2):c.3140C>G (p.Thr1047Arg) http://identifiers.org/clinvar/44312 ^@ NM_001943.4(DSG2):c.3243C>T (p.Val1081=) http://identifiers.org/clinvar/44313 ^@ NM_001943.4(DSG2):c.3244C>G (p.Pro1082Ala) http://identifiers.org/clinvar/44314 ^@ NM_001943.4(DSG2):c.3295A>G (p.Thr1099Ala) http://identifiers.org/clinvar/44315 ^@ NM_001943.4(DSG2):c.3321T>C (p.Val1107=) http://identifiers.org/clinvar/44316 ^@ NM_001943.4(DSG2):c.391G>A (p.Ala131Thr) http://identifiers.org/clinvar/44317 ^@ NM_001943.4(DSG2):c.437G>T (p.Arg146Leu) http://identifiers.org/clinvar/44318 ^@ NM_001943.4(DSG2):c.44T>A (p.Leu15Gln) http://identifiers.org/clinvar/44319 ^@ NM_001943.4(DSG2):c.473T>G (p.Val158Gly) http://identifiers.org/clinvar/44320 ^@ NM_001943.4(DSG2):c.474G>A (p.Val158=) http://identifiers.org/clinvar/44321 ^@ NM_001943.4(DSG2):c.523+2T>C http://identifiers.org/clinvar/44322 ^@ NM_001943.4(DSG2):c.524-9T>A http://identifiers.org/clinvar/44323 ^@ NM_001943.4(DSG2):c.545A>G (p.Asn182Ser) http://identifiers.org/clinvar/44324 ^@ NM_001943.4(DSG2):c.581C>T (p.Ser194Leu) http://identifiers.org/clinvar/44325 ^@ NM_001943.4(DSG2):c.618T>A (p.Ala206=) http://identifiers.org/clinvar/44326 ^@ NM_001943.4(DSG2):c.716T>C (p.Val239Ala) http://identifiers.org/clinvar/44327 ^@ NM_001943.4(DSG2):c.84C>G (p.Val28=) http://identifiers.org/clinvar/44328 ^@ NM_001943.4(DSG2):c.852T>C (p.Asn284=) http://identifiers.org/clinvar/44329 ^@ NM_001943.4(DSG2):c.861C>T (p.Asn287=) http://identifiers.org/clinvar/44330 ^@ NM_001943.4(DSG2):c.875G>A (p.Arg292His) http://identifiers.org/clinvar/44331 ^@ NM_001943.4(DSG2):c.877A>G (p.Ile293Val) http://identifiers.org/clinvar/44332 ^@ NM_001943.4(DSG2):c.941C>A (p.Ser314Ter) http://identifiers.org/clinvar/44333 ^@ NM_002052.4(GATA4):c.1056C>T (p.Asn352=) http://identifiers.org/clinvar/44334 ^@ NM_002052.4(GATA4):c.1129A>G (p.Ser377Gly) http://identifiers.org/clinvar/44335 ^@ NM_002052.4(GATA4):c.699G>A (p.Thr233=) http://identifiers.org/clinvar/44336 ^@ NM_002052.4(GATA4):c.822C>T (p.Cys274=) http://identifiers.org/clinvar/44337 ^@ NM_002290.4(LAMA4):c.1056+8_1056+9insT http://identifiers.org/clinvar/44338 ^@ NM_002290.4(LAMA4):c.1057-14C>T http://identifiers.org/clinvar/44339 ^@ NM_002290.4(LAMA4):c.1169-8C>G http://identifiers.org/clinvar/44340 ^@ NM_002290.4(LAMA4):c.1188C>T (p.Leu396=) http://identifiers.org/clinvar/44341 ^@ NM_002290.4(LAMA4):c.1277G>A (p.Arg426His) http://identifiers.org/clinvar/44342 ^@ NM_002290.4(LAMA4):c.1305C>T (p.Leu435=) http://identifiers.org/clinvar/44343 ^@ NM_002290.4(LAMA4):c.1336+4G>T http://identifiers.org/clinvar/44344 ^@ NM_002290.4(LAMA4):c.1337-12A>G http://identifiers.org/clinvar/44345 ^@ NM_002290.4(LAMA4):c.1353G>A (p.Glu451=) http://identifiers.org/clinvar/44346 ^@ NM_002290.4(LAMA4):c.1369C>G (p.His457Asp) http://identifiers.org/clinvar/44347 ^@ NM_002290.4(LAMA4):c.1454T>A (p.Leu485His) http://identifiers.org/clinvar/44348 ^@ NM_002290.4(LAMA4):c.1471T>C (p.Tyr491His) http://identifiers.org/clinvar/44349 ^@ NM_002290.4(LAMA4):c.1612C>T (p.Arg538Cys) http://identifiers.org/clinvar/44350 ^@ NM_002290.4(LAMA4):c.1653G>A (p.Ala551=) http://identifiers.org/clinvar/44351 ^@ NM_002290.4(LAMA4):c.1689T>C (p.Ser563=) http://identifiers.org/clinvar/44352 ^@ NM_002290.4(LAMA4):c.1901C>G (p.Ala634Gly) http://identifiers.org/clinvar/44353 ^@ NM_001105208.2(LAMA4):c.199_200delCA (p.Gln67Valfs) http://identifiers.org/clinvar/44354 ^@ NM_002290.4(LAMA4):c.196-12T>C http://identifiers.org/clinvar/44355 ^@ NM_002290.4(LAMA4):c.196-15G>C http://identifiers.org/clinvar/44356 ^@ NM_002290.4(LAMA4):c.196-9C>T http://identifiers.org/clinvar/44357 ^@ NM_002290.4(LAMA4):c.1978G>T (p.Asp660Tyr) http://identifiers.org/clinvar/44358 ^@ NM_002290.4(LAMA4):c.2005G>A (p.Ala669Thr) http://identifiers.org/clinvar/44359 ^@ NM_002290.4(LAMA4):c.2035+12C>T http://identifiers.org/clinvar/44360 ^@ NM_002290.4(LAMA4):c.2069G>A (p.Arg690His) http://identifiers.org/clinvar/44361 ^@ NM_002290.4(LAMA4):c.2150G>A (p.Arg717Lys) http://identifiers.org/clinvar/44362 ^@ NM_002290.4(LAMA4):c.2472+15G>T http://identifiers.org/clinvar/44363 ^@ NM_002290.4(LAMA4):c.2556G>A (p.Thr852=) http://identifiers.org/clinvar/44364 ^@ NM_002290.4(LAMA4):c.2619G>T (p.Gln873His) http://identifiers.org/clinvar/44365 ^@ NM_002290.4(LAMA4):c.264C>T (p.Ser88=) http://identifiers.org/clinvar/44366 ^@ NM_002290.4(LAMA4):c.2789A>G (p.Glu930Gly) http://identifiers.org/clinvar/44367 ^@ NM_002290.4(LAMA4):c.279C>T (p.Asp93=) http://identifiers.org/clinvar/44368 ^@ NM_002290.4(LAMA4):c.280G>A (p.Gly94Ser) http://identifiers.org/clinvar/44369 ^@ NM_002290.4(LAMA4):c.2919A>C (p.Thr973=) http://identifiers.org/clinvar/44370 ^@ NM_002290.4(LAMA4):c.2929G>A (p.Val977Ile) http://identifiers.org/clinvar/44371 ^@ NM_002290.4(LAMA4):c.297+8G>A http://identifiers.org/clinvar/44372 ^@ NM_002290.4(LAMA4):c.2982C>T (p.Gly994=) http://identifiers.org/clinvar/44373 ^@ NM_002290.4(LAMA4):c.3154G>A (p.Val1052Met) http://identifiers.org/clinvar/44374 ^@ NM_002290.4(LAMA4):c.3218G>A (p.Arg1073Gln) http://identifiers.org/clinvar/44375 ^@ NM_002290.4(LAMA4):c.3262-15C>T http://identifiers.org/clinvar/44376 ^@ NM_002290.4(LAMA4):c.3328G>A (p.Gly1110Ser) http://identifiers.org/clinvar/44377 ^@ NM_002290.4(LAMA4):c.3335C>G (p.Pro1112Arg) http://identifiers.org/clinvar/44378 ^@ NM_002290.4(LAMA4):c.3537-7T>C http://identifiers.org/clinvar/44379 ^@ NM_002290.4(LAMA4):c.3813G>A (p.Gly1271=) http://identifiers.org/clinvar/44380 ^@ NM_002290.4(LAMA4):c.3922G>A (p.Val1308Ile) http://identifiers.org/clinvar/44381 ^@ NM_002290.4(LAMA4):c.4044C>T (p.Phe1348=) http://identifiers.org/clinvar/44382 ^@ NM_002290.4(LAMA4):c.4147C>T (p.Arg1383Trp) http://identifiers.org/clinvar/44383 ^@ NM_002290.4(LAMA4):c.4152T>C (p.Tyr1384=) http://identifiers.org/clinvar/44384 ^@ NM_002290.4(LAMA4):c.423-10C>T http://identifiers.org/clinvar/44385 ^@ NM_002290.4(LAMA4):c.423-4T>G http://identifiers.org/clinvar/44386 ^@ NM_002290.4(LAMA4):c.4266+15C>T http://identifiers.org/clinvar/44387 ^@ NM_002290.4(LAMA4):c.4293A>C (p.Ser1431=) http://identifiers.org/clinvar/44388 ^@ NM_002290.4(LAMA4):c.4365C>T (p.Ser1455=) http://identifiers.org/clinvar/44389 ^@ NM_002290.4(LAMA4):c.4415G>A (p.Arg1472His) http://identifiers.org/clinvar/44390 ^@ NM_002290.4(LAMA4):c.4425T>G (p.Phe1475Leu) http://identifiers.org/clinvar/44391 ^@ NM_002290.4(LAMA4):c.4455-3C>A http://identifiers.org/clinvar/44392 ^@ NM_002290.4(LAMA4):c.460C>T (p.Arg154Trp) http://identifiers.org/clinvar/44393 ^@ NM_002290.4(LAMA4):c.4625A>G (p.Asn1542Ser) http://identifiers.org/clinvar/44394 ^@ NM_002290.4(LAMA4):c.4658G>A (p.Arg1553Gln) http://identifiers.org/clinvar/44395 ^@ NM_002290.4(LAMA4):c.4670G>T (p.Ser1557Ile) http://identifiers.org/clinvar/44396 ^@ NM_002290.4(LAMA4):c.4695C>T (p.Leu1565=) http://identifiers.org/clinvar/44397 ^@ NM_002290.4(LAMA4):c.4801-3C>T http://identifiers.org/clinvar/44398 ^@ NM_002290.4(LAMA4):c.4831C>T (p.Leu1611Phe) http://identifiers.org/clinvar/44399 ^@ NM_002290.4(LAMA4):c.486T>C (p.Ala162=) http://identifiers.org/clinvar/44400 ^@ NM_002290.4(LAMA4):c.4995T>A (p.Ile1665=) http://identifiers.org/clinvar/44401 ^@ NM_002290.4(LAMA4):c.5139T>A (p.Val1713=) http://identifiers.org/clinvar/44402 ^@ NM_002290.4(LAMA4):c.514G>A (p.Gly172Ser) http://identifiers.org/clinvar/44403 ^@ NM_002290.4(LAMA4):c.521A>G (p.Tyr174Cys) http://identifiers.org/clinvar/44404 ^@ NM_002290.4(LAMA4):c.5249C>T (p.Pro1750Leu) http://identifiers.org/clinvar/44405 ^@ NM_002290.4(LAMA4):c.5305+15A>C http://identifiers.org/clinvar/44406 ^@ NM_002290.4(LAMA4):c.5305+6T>G http://identifiers.org/clinvar/44407 ^@ NM_002290.4(LAMA4):c.531C>T (p.Pro177=) http://identifiers.org/clinvar/44408 ^@ NM_002290.4(LAMA4):c.5422G>A (p.Val1808Ile) http://identifiers.org/clinvar/44409 ^@ NM_002290.4(LAMA4):c.651C>T (p.Thr217=) http://identifiers.org/clinvar/44410 ^@ NM_002290.4(LAMA4):c.842C>G (p.Ala281Gly) http://identifiers.org/clinvar/44411 ^@ NM_002290.4(LAMA4):c.867C>T (p.Ser289=) http://identifiers.org/clinvar/44412 ^@ NM_002290.4(LAMA4):c.900T>G (p.Ala300=) http://identifiers.org/clinvar/44413 ^@ NM_002290.4(LAMA4):c.903T>C (p.His301=) http://identifiers.org/clinvar/44414 ^@ NM_002294.2(LAMP2):c.-4G>A http://identifiers.org/clinvar/44415 ^@ NM_002294.2(LAMP2):c.-4G>C http://identifiers.org/clinvar/44416 ^@ NM_002294.2(LAMP2):c.156A>T (p.Val52=) http://identifiers.org/clinvar/44417 ^@ NM_001122606.1(LAMP2):c.158G>A (p.Arg53His) http://identifiers.org/clinvar/44418 ^@ NM_001122606.1(LAMP2):c.183T>A (p.Tyr61Ter) http://identifiers.org/clinvar/44419 ^@ NM_001122606.1(LAMP2):c.183T>G (p.Tyr61Ter) http://identifiers.org/clinvar/44420 ^@ NM_002294.2(LAMP2):c.184-7C>G http://identifiers.org/clinvar/44421 ^@ NM_001122606.1(LAMP2):c.191delT (p.Val64Glufs) http://identifiers.org/clinvar/44422 ^@ NM_001122606.1(LAMP2):c.217dupA (p.Thr73Asnfs) http://identifiers.org/clinvar/44423 ^@ NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) http://identifiers.org/clinvar/44424 ^@ NM_001122606.1(LAMP2):c.299C>T (p.Ala100Val) http://identifiers.org/clinvar/44425 ^@ NM_001122606.1(LAMP2):c.333T>C (p.Ile111=) http://identifiers.org/clinvar/44426 ^@ NM_002294.2(LAMP2):c.339C>T (p.Ser113=) http://identifiers.org/clinvar/44427 ^@ NM_002294.2(LAMP2):c.65-2A>G http://identifiers.org/clinvar/44428 ^@ NM_001122606.1(LAMP2):c.371C>T (p.Thr124Ile) http://identifiers.org/clinvar/44429 ^@ NM_001122606.1(LAMP2):c.472A>G (p.Thr158Ala) http://identifiers.org/clinvar/44430 ^@ NM_002294.2(LAMP2):c.517G>A (p.Val173Ile) http://identifiers.org/clinvar/44431 ^@ NM_001122606.1(LAMP2):c.56T>G (p.Leu19Arg) http://identifiers.org/clinvar/44432 ^@ NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) http://identifiers.org/clinvar/44433 ^@ NM_002294.2(LAMP2):c.591G>A (p.Val197=) http://identifiers.org/clinvar/44434 ^@ NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) http://identifiers.org/clinvar/44435 ^@ NM_001122606.1(LAMP2):c.672A>G (p.Ser224=) http://identifiers.org/clinvar/44436 ^@ NM_002294.2(LAMP2):c.741+11C>T http://identifiers.org/clinvar/44437 ^@ NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) http://identifiers.org/clinvar/44438 ^@ NM_001122606.1(LAMP2):c.824A>G (p.Asn275Ser) http://identifiers.org/clinvar/44439 ^@ NM_001122606.1(LAMP2):c.842A>G (p.Tyr281Cys) http://identifiers.org/clinvar/44440 ^@ NM_001122606.1(LAMP2):c.845T>G (p.Leu282Arg) http://identifiers.org/clinvar/44441 ^@ NM_001122606.1(LAMP2):c.855C>T (p.Val285=) http://identifiers.org/clinvar/44442 ^@ NM_002294.2(LAMP2):c.864+3_864+6delGAGT http://identifiers.org/clinvar/44443 ^@ NM_002294.2(LAMP2):c.865-1G>C http://identifiers.org/clinvar/44444 ^@ NM_002294.2(LAMP2):c.865-3C>A http://identifiers.org/clinvar/44445 ^@ NM_002294.2(LAMP2):c.927C>T (p.Ser309=) http://identifiers.org/clinvar/44446 ^@ NM_002471.3(MYH6):c.1071C>T (p.Ile357=) http://identifiers.org/clinvar/44447 ^@ NM_002471.3(MYH6):c.1112A>G (p.Glu371Gly) http://identifiers.org/clinvar/44448 ^@ NM_002471.3(MYH6):c.1131C>G (p.Asp377Glu) http://identifiers.org/clinvar/44449 ^@ NM_002471.3(MYH6):c.1252G>A (p.Val418Met) http://identifiers.org/clinvar/44450 ^@ NM_002471.3(MYH6):c.1275C>T (p.Ile425=) http://identifiers.org/clinvar/44451 ^@ NM_002471.3(MYH6):c.1335C>T (p.Asn445=) http://identifiers.org/clinvar/44452 ^@ NM_002471.3(MYH6):c.1425G>C (p.Glu475Asp) http://identifiers.org/clinvar/44453 ^@ NM_002471.3(MYH6):c.1449C>T (p.Asn483=) http://identifiers.org/clinvar/44454 ^@ NM_002471.3(MYH6):c.1535T>C (p.Ile512Thr) http://identifiers.org/clinvar/44455 ^@ NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) http://identifiers.org/clinvar/44456 ^@ NM_002471.3(MYH6):c.1779C>A (p.Gly593=) http://identifiers.org/clinvar/44457 ^@ NM_002471.3(MYH6):c.1809C>T (p.Asn603=) http://identifiers.org/clinvar/44458 ^@ NM_002471.3(MYH6):c.1839C>G (p.Ser613=) http://identifiers.org/clinvar/44459 ^@ NM_002471.3(MYH6):c.1875C>T (p.Tyr625=) http://identifiers.org/clinvar/44460 ^@ NM_002471.3(MYH6):c.1989C>T (p.Asn663=) http://identifiers.org/clinvar/44461 ^@ NM_002471.3(MYH6):c.2151C>T (p.Tyr717=) http://identifiers.org/clinvar/44462 ^@ NM_002471.3(MYH6):c.2293-12C>G http://identifiers.org/clinvar/44463 ^@ NM_002471.3(MYH6):c.2401A>G (p.Ile801Val) http://identifiers.org/clinvar/44464 ^@ NM_002471.3(MYH6):c.2429+14A>C http://identifiers.org/clinvar/44465 ^@ NM_002471.3(MYH6):c.252C>T (p.Phe84=) http://identifiers.org/clinvar/44466 ^@ NM_002471.3(MYH6):c.253G>A (p.Asp85Asn) http://identifiers.org/clinvar/44467 ^@ NM_002471.3(MYH6):c.2579G>A (p.Arg860His) http://identifiers.org/clinvar/44468 ^@ NM_002471.3(MYH6):c.2599A>G (p.Lys867Glu) http://identifiers.org/clinvar/44469 ^@ NM_002471.3(MYH6):c.2611C>T (p.Arg871Cys) http://identifiers.org/clinvar/44470 ^@ NM_002471.3(MYH6):c.2614C>T (p.Arg872Cys) http://identifiers.org/clinvar/44471 ^@ NM_002471.3(MYH6):c.2806G>T (p.Ala936Ser) http://identifiers.org/clinvar/44472 ^@ NM_002471.3(MYH6):c.2890G>T (p.Ala964Ser) http://identifiers.org/clinvar/44473 ^@ NM_002471.3(MYH6):c.2928+5G>A http://identifiers.org/clinvar/44474 ^@ NM_002471.3(MYH6):c.292G>A (p.Glu98Lys) http://identifiers.org/clinvar/44475 ^@ NM_002471.3(MYH6):c.2946G>A (p.Glu982=) http://identifiers.org/clinvar/44476 ^@ NM_002471.3(MYH6):c.3118C>T (p.Leu1040=) http://identifiers.org/clinvar/44477 ^@ NM_002471.3(MYH6):c.3199A>G (p.Ser1067Gly) http://identifiers.org/clinvar/44478 ^@ NM_002471.3(MYH6):c.328G>A (p.Ala110Thr) http://identifiers.org/clinvar/44479 ^@ NM_002471.3(MYH6):c.3297G>A (p.Glu1099=) http://identifiers.org/clinvar/44480 ^@ NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) http://identifiers.org/clinvar/44481 ^@ NM_002471.3(MYH6):c.330G>A (p.Ala110=) http://identifiers.org/clinvar/44482 ^@ NM_002471.3(MYH6):c.3383G>A (p.Arg1128His) http://identifiers.org/clinvar/44483 ^@ NM_002471.3(MYH6):c.3388G>A (p.Ala1130Thr) http://identifiers.org/clinvar/44484 ^@ NM_002471.3(MYH6):c.3408G>A (p.Lys1136=) http://identifiers.org/clinvar/44485 ^@ NM_002471.3(MYH6):c.3437dupA (p.Glu1147Glyfs) http://identifiers.org/clinvar/44486 ^@ NM_002471.3(MYH6):c.3480C>T (p.Ser1160=) http://identifiers.org/clinvar/44487 ^@ NM_002471.3(MYH6):c.3609C>G (p.Ala1203=) http://identifiers.org/clinvar/44488 ^@ NM_002471.3(MYH6):c.3619G>A (p.Glu1207Lys) http://identifiers.org/clinvar/44489 ^@ NM_002471.3(MYH6):c.3627C>T (p.Ile1209=) http://identifiers.org/clinvar/44490 ^@ NM_002471.3(MYH6):c.3784C>T (p.Arg1262Cys) http://identifiers.org/clinvar/44491 ^@ NM_002471.3(MYH6):c.3860-15T>G http://identifiers.org/clinvar/44492 ^@ NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) http://identifiers.org/clinvar/44493 ^@ NM_002471.3(MYH6):c.3903G>A (p.Ser1301=) http://identifiers.org/clinvar/44494 ^@ NM_002471.3(MYH6):c.3927T>C (p.Ser1309=) http://identifiers.org/clinvar/44495 ^@ NM_002471.3(MYH6):c.393G>A (p.Leu131=) http://identifiers.org/clinvar/44496 ^@ NM_002471.3(MYH6):c.3978+8C>T http://identifiers.org/clinvar/44497 ^@ NM_002471.3(MYH6):c.3979-7_3979-5delTCC http://identifiers.org/clinvar/44498 ^@ NM_002471.3(MYH6):c.3979-7_3979-6delTC http://identifiers.org/clinvar/44499 ^@ NM_002471.3(MYH6):c.3979-7delT http://identifiers.org/clinvar/44500 ^@ NM_002471.3(MYH6):c.399G>A (p.Val133=) http://identifiers.org/clinvar/44501 ^@ NM_002471.3(MYH6):c.4011G>A (p.Ser1337=) http://identifiers.org/clinvar/44502 ^@ NM_002471.3(MYH6):c.4036C>T (p.Arg1346Trp) http://identifiers.org/clinvar/44503 ^@ NM_002471.3(MYH6):c.4064C>T (p.Ala1355Val) http://identifiers.org/clinvar/44504 ^@ NM_002471.3(MYH6):c.411G>A (p.Glu137=) http://identifiers.org/clinvar/44505 ^@ NM_002471.3(MYH6):c.4165G>A (p.Glu1389Lys) http://identifiers.org/clinvar/44506 ^@ NM_002471.3(MYH6):c.4206C>T (p.Ala1402=) http://identifiers.org/clinvar/44507 ^@ NM_002471.3(MYH6):c.427C>A (p.Arg143=) http://identifiers.org/clinvar/44508 ^@ NM_002471.3(MYH6):c.4300G>A (p.Val1434Ile) http://identifiers.org/clinvar/44509 ^@ NM_002471.3(MYH6):c.4320T>A (p.Ala1440=) http://identifiers.org/clinvar/44510 ^@ NM_002471.3(MYH6):c.4359+13C>T http://identifiers.org/clinvar/44511 ^@ NM_002471.3(MYH6):c.4360-7C>T http://identifiers.org/clinvar/44512 ^@ NM_002471.3(MYH6):c.4395G>A (p.Ser1465=) http://identifiers.org/clinvar/44513 ^@ NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln) http://identifiers.org/clinvar/44514 ^@ NM_002471.3(MYH6):c.4525+13T>C http://identifiers.org/clinvar/44515 ^@ NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) http://identifiers.org/clinvar/44516 ^@ NM_002471.3(MYH6):c.4536G>A (p.Ser1512=) http://identifiers.org/clinvar/44517 ^@ NM_002471.3(MYH6):c.4611G>A (p.Val1537=) http://identifiers.org/clinvar/44518 ^@ NM_002471.3(MYH6):c.4747G>A (p.Glu1583Lys) http://identifiers.org/clinvar/44519 ^@ NM_002471.3(MYH6):c.4772A>G (p.Asn1591Ser) http://identifiers.org/clinvar/44520 ^@ NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) http://identifiers.org/clinvar/44521 ^@ NM_002471.3(MYH6):c.4782G>A (p.Arg1594=) http://identifiers.org/clinvar/44522 ^@ NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) http://identifiers.org/clinvar/44523 ^@ NM_002471.3(MYH6):c.485A>G (p.Tyr162Cys) http://identifiers.org/clinvar/44524 ^@ NM_002471.3(MYH6):c.4899C>T (p.His1633=) http://identifiers.org/clinvar/44525 ^@ NM_002471.3(MYH6):c.4906C>T (p.Arg1636Cys) http://identifiers.org/clinvar/44526 ^@ NM_002471.3(MYH6):c.4914T>C (p.Ala1638=) http://identifiers.org/clinvar/44527 ^@ NM_002471.3(MYH6):c.4959+12C>T http://identifiers.org/clinvar/44528 ^@ NM_002471.3(MYH6):c.4980C>T (p.Asp1660=) http://identifiers.org/clinvar/44529 ^@ NM_002471.3(MYH6):c.4986G>A (p.Ala1662=) http://identifiers.org/clinvar/44530 ^@ NM_002471.3(MYH6):c.5019C>T (p.Ile1673=) http://identifiers.org/clinvar/44531 ^@ NM_002471.3(MYH6):c.5136C>T (p.Ser1712=) http://identifiers.org/clinvar/44532 ^@ NM_002471.3(MYH6):c.5259C>T (p.Ala1753=) http://identifiers.org/clinvar/44533 ^@ NM_002471.3(MYH6):c.5293G>A (p.Ala1765Thr) http://identifiers.org/clinvar/44534 ^@ NM_002471.3(MYH6):c.5296A>G (p.Met1766Val) http://identifiers.org/clinvar/44535 ^@ NM_002471.3(MYH6):c.5400C>T (p.Asp1800=) http://identifiers.org/clinvar/44536 ^@ NM_002471.3(MYH6):c.5439G>A (p.Gln1813=) http://identifiers.org/clinvar/44537 ^@ NM_002471.3(MYH6):c.5475G>A (p.Glu1825=) http://identifiers.org/clinvar/44538 ^@ NM_002471.3(MYH6):c.5662-6C>T http://identifiers.org/clinvar/44539 ^@ NM_002471.3(MYH6):c.568C>T (p.Arg190Cys) http://identifiers.org/clinvar/44540 ^@ NM_002471.3(MYH6):c.5700G>C (p.Lys1900Asn) http://identifiers.org/clinvar/44541 ^@ NM_002471.3(MYH6):c.622G>A (p.Asp208Asn) http://identifiers.org/clinvar/44542 ^@ NM_002471.3(MYH6):c.643-5C>T http://identifiers.org/clinvar/44543 ^@ NM_002471.3(MYH6):c.732C>T (p.Arg244=) http://identifiers.org/clinvar/44544 ^@ NM_002471.3(MYH6):c.800-11A>G http://identifiers.org/clinvar/44545 ^@ NM_002471.3(MYH6):c.824T>A (p.Ile275Asn) http://identifiers.org/clinvar/44546 ^@ NM_002471.3(MYH6):c.909G>A (p.Leu303=) http://identifiers.org/clinvar/44547 ^@ NM_002471.3(MYH6):c.928G>A (p.Asp310Asn) http://identifiers.org/clinvar/44548 ^@ NM_002473.5(MYH9):c.1083C>T (p.Asp361=) http://identifiers.org/clinvar/44549 ^@ NM_002473.5(MYH9):c.1108+9C>T http://identifiers.org/clinvar/44550 ^@ NM_002473.5(MYH9):c.1554+7A>G http://identifiers.org/clinvar/44551 ^@ NM_002473.5(MYH9):c.1728+10G>A http://identifiers.org/clinvar/44552 ^@ NM_002473.5(MYH9):c.1729-6C>T http://identifiers.org/clinvar/44553 ^@ NM_002473.5(MYH9):c.2038-5T>C http://identifiers.org/clinvar/44554 ^@ NM_002473.5(MYH9):c.2061C>T (p.Leu687=) http://identifiers.org/clinvar/44555 ^@ NM_002473.5(MYH9):c.2256T>C (p.Asn752=) http://identifiers.org/clinvar/44556 ^@ NM_002473.5(MYH9):c.3100+11G>C http://identifiers.org/clinvar/44557 ^@ NM_002473.5(MYH9):c.3192C>T (p.Ile1064=) http://identifiers.org/clinvar/44558 ^@ NM_002473.5(MYH9):c.3345A>G (p.Glu1115=) http://identifiers.org/clinvar/44559 ^@ NM_002473.5(MYH9):c.3429T>G (p.Ala1143=) http://identifiers.org/clinvar/44560 ^@ NM_002473.5(MYH9):c.3838-12C>T http://identifiers.org/clinvar/44561 ^@ NM_002473.5(MYH9):c.3838-8C>T http://identifiers.org/clinvar/44562 ^@ NM_002473.5(MYH9):c.4198C>T (p.Arg1400Trp) http://identifiers.org/clinvar/44563 ^@ NM_002473.5(MYH9):c.4563C>T (p.His1521=) http://identifiers.org/clinvar/44564 ^@ NM_002473.5(MYH9):c.4716C>T (p.Asp1572=) http://identifiers.org/clinvar/44565 ^@ NM_002473.5(MYH9):c.4872G>T (p.Ala1624=) http://identifiers.org/clinvar/44566 ^@ NM_002473.5(MYH9):c.4899G>A (p.Arg1633=) http://identifiers.org/clinvar/44567 ^@ NM_002473.5(MYH9):c.4952T>C (p.Met1651Thr) http://identifiers.org/clinvar/44568 ^@ NM_002473.5(MYH9):c.5151-4G>A http://identifiers.org/clinvar/44569 ^@ NM_002473.5(MYH9):c.5323A>G (p.Lys1775Glu) http://identifiers.org/clinvar/44570 ^@ NM_002473.5(MYH9):c.5483+4C>G http://identifiers.org/clinvar/44571 ^@ NM_002473.5(MYH9):c.5766-3delC http://identifiers.org/clinvar/44572 ^@ NM_002473.5(MYH9):c.5781G>T (p.Pro1927=) http://identifiers.org/clinvar/44573 ^@ NM_002473.5(MYH9):c.5818G>A (p.Gly1940Arg) http://identifiers.org/clinvar/44574 ^@ NM_002473.5(MYH9):c.705+9C>T http://identifiers.org/clinvar/44575 ^@ NM_002524.4(NRAS):c.291-8G>A http://identifiers.org/clinvar/44576 ^@ NM_002667.4(PLN):c.*4T>A http://identifiers.org/clinvar/67976 ^@ NM_000335.4(SCN5A):c.5287G>T (p.Val1763Phe) http://identifiers.org/clinvar/67977 ^@ NM_000335.4(SCN5A):c.5293A>C (p.Met1765Leu) http://identifiers.org/clinvar/67978 ^@ NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) http://identifiers.org/clinvar/67979 ^@ NM_000335.4(SCN5A):c.5297A>G (p.Tyr1766Cys) http://identifiers.org/clinvar/67980 ^@ NM_198056.2(SCN5A):c.5302A>G (p.Ile1768Val) http://identifiers.org/clinvar/67981 ^@ NM_000335.4(SCN5A):c.5311C>G (p.Leu1771Val) http://identifiers.org/clinvar/67982 ^@ NM_000335.4(SCN5A):c.5317A>G (p.Asn1773Asp) http://identifiers.org/clinvar/67983 ^@ NM_000335.4(SCN5A):c.5318A>G (p.Asn1773Ser) http://identifiers.org/clinvar/67984 ^@ NM_198056.2(SCN5A):c.5329G>A (p.Val1777Met) http://identifiers.org/clinvar/67985 ^@ NM_000335.4(SCN5A):c.5333C>T (p.Thr1778Met) http://identifiers.org/clinvar/67986 ^@ NM_000335.4(SCN5A):c.533C>G (p.Ala178Gly) http://identifiers.org/clinvar/67987 ^@ NM_000335.4(SCN5A):c.5354T>A (p.Leu1785Gln) http://identifiers.org/clinvar/67988 ^@ NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) http://identifiers.org/clinvar/67989 ^@ NM_000335.4(SCN5A):c.5366A>G (p.Asp1789Gly) http://identifiers.org/clinvar/67990 ^@ NM_198056.2(SCN5A):c.5405A>G (p.Asp1802Gly) http://identifiers.org/clinvar/67991 ^@ NM_000335.4(SCN5A):c.544T>C (p.Cys182Arg) http://identifiers.org/clinvar/67992 ^@ NM_000335.4(SCN5A):c.5467C>G (p.Pro1823Ala) http://identifiers.org/clinvar/67993 ^@ NM_000335.4(SCN5A):c.5471T>C (p.Leu1824Pro) http://identifiers.org/clinvar/67994 ^@ NM_198056.2(SCN5A):c.5476C>T (p.Arg1826Cys) http://identifiers.org/clinvar/67995 ^@ NM_000335.4(SCN5A):c.5513A>G (p.Asp1838Gly) http://identifiers.org/clinvar/67996 ^@ NM_198056.2(SCN5A):c.553G>A (p.Ala185Thr) http://identifiers.org/clinvar/67997 ^@ NM_000335.4(SCN5A):c.5546G>C (p.Cys1849Ser) http://identifiers.org/clinvar/67998 ^@ NM_000335.4(SCN5A):c.554C>T (p.Ala185Val) http://identifiers.org/clinvar/67999 ^@ NM_000335.4(SCN5A):c.5578G>A (p.Val1860Ile) http://identifiers.org/clinvar/68000 ^@ NM_000335.4(SCN5A):c.560C>T (p.Thr187Ile) http://identifiers.org/clinvar/68001 ^@ NM_000335.4(SCN5A):c.5613G>C (p.Lys1871Asn) http://identifiers.org/clinvar/68002 ^@ NM_198056.2(SCN5A):c.5624T>C (p.Met1875Thr) http://identifiers.org/clinvar/68003 ^@ NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp) http://identifiers.org/clinvar/68004 ^@ NM_198056.2(SCN5A):c.568C>G (p.Arg190Gly) http://identifiers.org/clinvar/68005 ^@ NM_198056.2(SCN5A):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/68006 ^@ NM_000335.4(SCN5A):c.5698G>A (p.Glu1900Lys) http://identifiers.org/clinvar/68007 ^@ NM_000335.4(SCN5A):c.5698G>C (p.Glu1900Gln) http://identifiers.org/clinvar/68008 ^@ NM_198056.2(SCN5A):c.5726A>G (p.Gln1909Arg) http://identifiers.org/clinvar/68009 ^@ NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His) http://identifiers.org/clinvar/68010 ^@ NM_000335.4(SCN5A):c.5752C>T (p.Arg1918Cys) http://identifiers.org/clinvar/68011 ^@ NM_000335.4(SCN5A):c.5800G>A (p.Gly1934Ser) http://identifiers.org/clinvar/68012 ^@ NM_198056.2(SCN5A):c.5812G>A (p.Glu1938Lys) http://identifiers.org/clinvar/68013 ^@ NM_000335.4(SCN5A):c.5842G>T (p.Ala1948Ser) http://identifiers.org/clinvar/68014 ^@ NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) http://identifiers.org/clinvar/68015 ^@ NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) http://identifiers.org/clinvar/68016 ^@ NM_000335.4(SCN5A):c.5888C>T (p.Ser1963Phe) http://identifiers.org/clinvar/68017 ^@ NM_000335.4(SCN5A):c.5900T>G (p.Ile1967Ser) http://identifiers.org/clinvar/68018 ^@ NM_198056.2(SCN5A):c.5904C>G (p.Ile1968Met) http://identifiers.org/clinvar/68019 ^@ NM_000335.4(SCN5A):c.5926T>A (p.Tyr1976Asn) http://identifiers.org/clinvar/68020 ^@ NM_198056.2(SCN5A):c.5963T>G (p.Leu1988Arg) http://identifiers.org/clinvar/68021 ^@ NM_000335.4(SCN5A):c.5969G>A (p.Arg1990Gln) http://identifiers.org/clinvar/68022 ^@ NM_000335.4(SCN5A):c.6007T>G (p.Phe2003Val) http://identifiers.org/clinvar/68023 ^@ NM_000335.4(SCN5A):c.6010C>G (p.Pro2004Ala) http://identifiers.org/clinvar/68024 ^@ NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) http://identifiers.org/clinvar/68025 ^@ NM_000335.4(SCN5A):c.6014C>G (p.Pro2005Arg) http://identifiers.org/clinvar/68026 ^@ NM_198056.2(SCN5A):c.6017C>T (p.Pro2006Leu) http://identifiers.org/clinvar/68027 ^@ NM_198056.2(SCN5A):c.6034C>T (p.Arg2012Cys) http://identifiers.org/clinvar/68028 ^@ NM_000335.4(SCN5A):c.611C>T (p.Ala204Val) http://identifiers.org/clinvar/68029 ^@ NM_000335.4(SCN5A):c.635T>A (p.Leu212Gln) http://identifiers.org/clinvar/68030 ^@ NM_000335.4(SCN5A):c.635T>C (p.Leu212Pro) http://identifiers.org/clinvar/68031 ^@ NM_000335.4(SCN5A):c.667G>C (p.Val223Leu) http://identifiers.org/clinvar/68032 ^@ NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) http://identifiers.org/clinvar/68033 ^@ NM_000335.4(SCN5A):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/68034 ^@ NM_000335.4(SCN5A):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/68035 ^@ NM_000335.4(SCN5A):c.688A>G (p.Ile230Val) http://identifiers.org/clinvar/68036 ^@ NM_000335.4(SCN5A):c.689T>C (p.Ile230Thr) http://identifiers.org/clinvar/68038 ^@ NM_000335.4(SCN5A):c.715A>G (p.Ile239Val) http://identifiers.org/clinvar/68039 ^@ NM_198056.2(SCN5A):c.718G>A (p.Val240Met) http://identifiers.org/clinvar/68040 ^@ NM_000335.4(SCN5A):c.733C>A (p.Gln245Lys) http://identifiers.org/clinvar/68041 ^@ NM_000335.4(SCN5A):c.739G>C (p.Val247Leu) http://identifiers.org/clinvar/68042 ^@ NM_000335.4(SCN5A):c.808C>A (p.Gln270Lys) http://identifiers.org/clinvar/68043 ^@ NM_198056.2(SCN5A):c.80G>A (p.Arg27His) http://identifiers.org/clinvar/68044 ^@ NM_000335.4(SCN5A):c.825C>A (p.Asn275Lys) http://identifiers.org/clinvar/68045 ^@ NM_000335.4(SCN5A):c.827T>A (p.Leu276Gln) http://identifiers.org/clinvar/68046 ^@ NM_000335.4(SCN5A):c.832C>G (p.His278Asp) http://identifiers.org/clinvar/68047 ^@ NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/68048 ^@ NM_198056.2(SCN5A):c.845G>A (p.Arg282His) http://identifiers.org/clinvar/68049 ^@ NM_198056.2(SCN5A):c.856G>T (p.Ala286Ser) http://identifiers.org/clinvar/68050 ^@ NM_000335.4(SCN5A):c.865G>A (p.Gly289Ser) http://identifiers.org/clinvar/68051 ^@ NM_198056.2(SCN5A):c.871A>C (p.Asn291His) http://identifiers.org/clinvar/68052 ^@ NM_000335.4(SCN5A):c.872A>G (p.Asn291Ser) http://identifiers.org/clinvar/68053 ^@ NM_198056.2(SCN5A):c.874G>A (p.Gly292Ser) http://identifiers.org/clinvar/68054 ^@ NM_000335.4(SCN5A):c.880G>A (p.Val294Met) http://identifiers.org/clinvar/68055 ^@ NM_198056.2(SCN5A):c.895T>A (p.Leu299Met) http://identifiers.org/clinvar/68056 ^@ NM_000335.4(SCN5A):c.898G>A (p.Val300Ile) http://identifiers.org/clinvar/68057 ^@ NM_000335.4(SCN5A):c.89A>G (p.Glu30Gly) http://identifiers.org/clinvar/68058 ^@ NM_198056.2(SCN5A):c.944T>C (p.Leu315Pro) http://identifiers.org/clinvar/68059 ^@ NM_000335.4(SCN5A):c.951G>C (p.Lys317Asn) http://identifiers.org/clinvar/68060 ^@ NM_000335.4(SCN5A):c.955G>A (p.Gly319Ser) http://identifiers.org/clinvar/68061 ^@ NM_000335.4(SCN5A):c.959C>A (p.Thr320Asn) http://identifiers.org/clinvar/68062 ^@ NM_000335.4(SCN5A):c.974T>G (p.Leu325Arg) http://identifiers.org/clinvar/68063 ^@ NM_024685.3(BBS10):c.1202G>A (p.Gly401Glu) http://identifiers.org/clinvar/68064 ^@ NM_177976.3(ARL6):c.272T>C (p.Ile91Thr) http://identifiers.org/clinvar/68065 ^@ NM_001178007.1(BBS12):c.323C>G (p.Pro108Arg) http://identifiers.org/clinvar/68066 ^@ NM_152384.2(BBS5):c.413G>A (p.Arg138His) http://identifiers.org/clinvar/68067 ^@ NM_031433.3(MFRP):c.1124+11C>G http://identifiers.org/clinvar/68068 ^@ NM_031433.3(MFRP):c.1255+33_1255+34delTA http://identifiers.org/clinvar/68069 ^@ NM_031433.3(MFRP):c.290C>T (p.Pro97Leu) http://identifiers.org/clinvar/68070 ^@ NM_031433.3(MFRP):c.55-17_55-15dupGTA http://identifiers.org/clinvar/68071 ^@ NM_031433.3(MFRP):c.975+18T>C http://identifiers.org/clinvar/68072 ^@ NM_000330.3(RS1):c.349C>T (p.Gln117Ter) http://identifiers.org/clinvar/68073 ^@ NM_000330.3(RS1):c.374T>G (p.Ile125Arg) http://identifiers.org/clinvar/68074 ^@ NM_000330.3(RS1):c.376G>C (p.Asp126His) http://identifiers.org/clinvar/68075 ^@ NM_000330.3(RS1):c.387_434dup48 (p.Ile144_Asp145insGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIle) http://identifiers.org/clinvar/68076 ^@ NM_000330.3(RS1):c.579delC (p.Ile194Serfs) http://identifiers.org/clinvar/68077 ^@ NM_000330.3(RS1):c.583_585dupATC (p.Ile195_Ser196insIle) http://identifiers.org/clinvar/68078 ^@ NM_000330.3(RS1):c.663dupC (p.Lys222Glnfs) http://identifiers.org/clinvar/68079 ^@ NM_182894.2(VSX2):c.866G>A (p.Gly289Asp) http://identifiers.org/clinvar/68080 ^@ NM_017890.4(VPS13B):c.10456_10457delAG (p.Leu3487Profs) http://identifiers.org/clinvar/68081 ^@ NM_017890.4(VPS13B):c.11245G>T (p.Glu3749Ter) http://identifiers.org/clinvar/68082 ^@ NM_017890.4(VPS13B):c.11564_11565delAT (p.Tyr3855Cysfs) http://identifiers.org/clinvar/68083 ^@ NM_017890.4(VPS13B):c.1504C>T (p.Arg502Ter) http://identifiers.org/clinvar/68084 ^@ NM_017890.4(VPS13B):c.1563G>A (p.Lys521=) http://identifiers.org/clinvar/68086 ^@ NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) http://identifiers.org/clinvar/68087 ^@ NM_017890.4(VPS13B):c.4955C>G (p.Ser1652Ter) http://identifiers.org/clinvar/68089 ^@ NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) http://identifiers.org/clinvar/68090 ^@ NM_017890.4(VPS13B):c.7153G>T (p.Glu2385Ter) http://identifiers.org/clinvar/68091 ^@ NM_017890.4(VPS13B):c.7322_7322+1delGGinsATGGAGC http://identifiers.org/clinvar/68092 ^@ NM_017890.4(VPS13B):c.8292C>A (p.Cys2764Ter) http://identifiers.org/clinvar/68093 ^@ NM_017890.4(VPS13B):c.8318C>T (p.Ser2773Leu) http://identifiers.org/clinvar/68094 ^@ NM_017882.2(CLN6):c.150C>G (p.Tyr50Ter) http://identifiers.org/clinvar/68095 ^@ NM_017882.2(CLN6):c.231C>G (p.Asn77Lys) http://identifiers.org/clinvar/68096 ^@ NM_017882.2(CLN6):c.446G>A (p.Arg149His) http://identifiers.org/clinvar/68097 ^@ NM_017882.2(CLN6):c.712T>A (p.Phe238Ile) http://identifiers.org/clinvar/68098 ^@ NM_017882.2(CLN6):c.890delC (p.Pro297Leufs) http://identifiers.org/clinvar/68099 ^@ NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) http://identifiers.org/clinvar/68100 ^@ NM_000527.4(LDLR):c.653delG (p.Gly218Valfs) http://identifiers.org/clinvar/68101 ^@ NM_000527.4(LDLR):c.1356C>T (p.Cys452=) http://identifiers.org/clinvar/68102 ^@ NM_000527.4(LDLR):c.1875C>T (p.Asn625=) http://identifiers.org/clinvar/68103 ^@ NM_000527.4(LDLR):c.2061dupC (p.Asn688Glnfs) http://identifiers.org/clinvar/68104 ^@ NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) http://identifiers.org/clinvar/68105 ^@ NM_024312.4(GNPTAB):c.1875C>G (p.Phe625Leu) http://identifiers.org/clinvar/68106 ^@ NM_024312.4(GNPTAB):c.961A>G (p.Ser321Gly) http://identifiers.org/clinvar/68107 ^@ NM_024312.4(GNPTAB):c.3598G>A (p.Glu1200Lys) http://identifiers.org/clinvar/68108 ^@ NM_032520.4(GNPTG):c.74C>A (p.Ala25Glu) http://identifiers.org/clinvar/68109 ^@ NM_032520.4(GNPTG):c.688C>G (p.Leu230Val) http://identifiers.org/clinvar/68111 ^@ NM_000487.5(ARSA):c.100G>A (p.Gly34Ser) http://identifiers.org/clinvar/68112 ^@ NM_000487.5(ARSA):c.1107G>C (p.Lys369Asn) http://identifiers.org/clinvar/68113 ^@ NM_000487.5(ARSA):c.1132T>A (p.Tyr378Asn) http://identifiers.org/clinvar/68114 ^@ NM_000487.5(ARSA):c.1149C>G (p.Asp383Glu) http://identifiers.org/clinvar/68115 ^@ NM_000487.5(ARSA):c.1156C>T (p.Arg386Cys) http://identifiers.org/clinvar/68116 ^@ NM_000487.5(ARSA):c.1175G>A (p.Arg392Gln) http://identifiers.org/clinvar/68117 ^@ NM_000487.5(ARSA):c.1195C>T (p.His399Tyr) http://identifiers.org/clinvar/68118 ^@ NM_000487.5(ARSA):c.1222A>G (p.Ser408Gly) http://identifiers.org/clinvar/68119 ^@ NM_000487.5(ARSA):c.1289T>C (p.Leu430Pro) http://identifiers.org/clinvar/68120 ^@ NM_000487.5(ARSA):c.1292A>C (p.Tyr431Ser) http://identifiers.org/clinvar/68121 ^@ NM_000487.5(ARSA):c.1412C>G (p.Ala471Gly) http://identifiers.org/clinvar/68122 ^@ NM_000487.5(ARSA):c.1471T>G (p.Cys491Gly) http://identifiers.org/clinvar/68123 ^@ NM_000487.5(ARSA):c.161T>C (p.Leu54Pro) http://identifiers.org/clinvar/68124 ^@ NM_000487.5(ARSA):c.209T>C (p.Leu70Pro) http://identifiers.org/clinvar/68125 ^@ NM_000487.5(ARSA):c.233T>C (p.Leu78Pro) http://identifiers.org/clinvar/68126 ^@ NM_000487.5(ARSA):c.256C>T (p.Arg86Trp) http://identifiers.org/clinvar/68127 ^@ NM_000487.5(ARSA):c.286C>G (p.Pro96Ala) http://identifiers.org/clinvar/68128 ^@ NM_000487.5(ARSA):c.290G>A (p.Ser97Asn) http://identifiers.org/clinvar/68129 ^@ NM_000487.5(ARSA):c.302G>T (p.Gly101Val) http://identifiers.org/clinvar/68130 ^@ NM_000487.5(ARSA):c.361G>A (p.Gly121Arg) http://identifiers.org/clinvar/68131 ^@ NM_000487.5(ARSA):c.412C>T (p.Pro138Ser) http://identifiers.org/clinvar/68132 ^@ NM_000487.5(ARSA):c.418C>G (p.His140Asp) http://identifiers.org/clinvar/68133 ^@ NM_000487.5(ARSA):c.433C>G (p.Arg145Gly) http://identifiers.org/clinvar/68134 ^@ NM_000487.5(ARSA):c.449C>T (p.Pro150Leu) http://identifiers.org/clinvar/68135 ^@ NM_000487.5(ARSA):c.460G>T (p.Asp154Tyr) http://identifiers.org/clinvar/68136 ^@ NM_000487.5(ARSA):c.465G>C (p.Gln155His) http://identifiers.org/clinvar/68137 ^@ NM_000487.5(ARSA):c.470C>T (p.Pro157Leu) http://identifiers.org/clinvar/68138 ^@ NM_000487.5(ARSA):c.472T>C (p.Cys158Arg) http://identifiers.org/clinvar/68139 ^@ NM_000487.5(ARSA):c.521G>A (p.Cys174Tyr) http://identifiers.org/clinvar/68140 ^@ NM_000487.5(ARSA):c.548T>A (p.Leu183Gln) http://identifiers.org/clinvar/68141 ^@ NM_000487.5(ARSA):c.576G>C (p.Gln192His) http://identifiers.org/clinvar/68142 ^@ NM_000487.5(ARSA):c.577C>A (p.Pro193Thr) http://identifiers.org/clinvar/68143 ^@ NM_000487.5(ARSA):c.59C>A (p.Ala20Asp) http://identifiers.org/clinvar/68144 ^@ NM_000487.5(ARSA):c.608A>G (p.Tyr203Cys) http://identifiers.org/clinvar/68145 ^@ NM_000487.5(ARSA):c.640G>C (p.Ala214Pro) http://identifiers.org/clinvar/68146 ^@ NM_000487.5(ARSA):c.661T>G (p.Phe221Val) http://identifiers.org/clinvar/68147 ^@ NM_000487.5(ARSA):c.685C>T (p.His229Tyr) http://identifiers.org/clinvar/68148 ^@ NM_000487.5(ARSA):c.737G>A (p.Arg246His) http://identifiers.org/clinvar/68149 ^@ NM_000487.5(ARSA):c.746T>C (p.Phe249Ser) http://identifiers.org/clinvar/68150 ^@ NM_000487.5(ARSA):c.755C>A (p.Ser252Tyr) http://identifiers.org/clinvar/68151 ^@ NM_000487.5(ARSA):c.847G>T (p.Asp283Tyr) http://identifiers.org/clinvar/68152 ^@ NM_000487.5(ARSA):c.851A>G (p.Asn284Ser) http://identifiers.org/clinvar/68153 ^@ NM_000487.5(ARSA):c.869G>A (p.Arg290His) http://identifiers.org/clinvar/68154 ^@ NM_000487.5(ARSA):c.883G>A (p.Gly295Ser) http://identifiers.org/clinvar/68155 ^@ NM_000487.5(ARSA):c.884G>A (p.Gly295Asp) http://identifiers.org/clinvar/68156 ^@ NM_000487.5(ARSA):c.887G>A (p.Cys296Tyr) http://identifiers.org/clinvar/68157 ^@ NM_000487.5(ARSA):c.899T>C (p.Leu300Ser) http://identifiers.org/clinvar/68158 ^@ NM_000487.5(ARSA):c.912G>C (p.Lys304Asn) http://identifiers.org/clinvar/68159 ^@ NM_000487.5(ARSA):c.917C>T (p.Thr306Met) http://identifiers.org/clinvar/68160 ^@ NM_000487.5(ARSA):c.91G>A (p.Asp31Asn) http://identifiers.org/clinvar/68161 ^@ NM_000487.5(ARSA):c.922T>C (p.Tyr308His) http://identifiers.org/clinvar/68162 ^@ NM_000487.5(ARSA):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/68163 ^@ NM_000487.5(ARSA):c.929G>A (p.Gly310Asp) http://identifiers.org/clinvar/68164 ^@ NM_000487.5(ARSA):c.929G>T (p.Gly310Val) http://identifiers.org/clinvar/68165 ^@ NM_000487.5(ARSA):c.938G>A (p.Arg313Gln) http://identifiers.org/clinvar/68166 ^@ NM_000487.5(ARSA):c.942G>T (p.Glu314Asp) http://identifiers.org/clinvar/68167 ^@ NM_000487.5(ARSA):c.946G>A (p.Ala316Thr) http://identifiers.org/clinvar/68168 ^@ NM_000487.5(ARSA):c.94G>C (p.Asp32His) http://identifiers.org/clinvar/68169 ^@ NM_000128.3(F11):c.100G>C (p.Asp34His) http://identifiers.org/clinvar/68170 ^@ NM_000128.3(F11):c.1021G>A (p.Glu341Lys) http://identifiers.org/clinvar/68171 ^@ NM_000128.3(F11):c.1079T>C (p.Leu360Pro) http://identifiers.org/clinvar/68172 ^@ NM_000128.3(F11):c.1201T>C (p.Trp401Arg) http://identifiers.org/clinvar/68173 ^@ NM_000128.3(F11):c.1207G>A (p.Val403Met) http://identifiers.org/clinvar/68174 ^@ NM_000128.3(F11):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/68175 ^@ NM_000128.3(F11):c.1361T>A (p.Ile454Lys) http://identifiers.org/clinvar/68176 ^@ NM_000128.3(F11):c.137G>T (p.Cys46Phe) http://identifiers.org/clinvar/68177 ^@ NM_000128.3(F11):c.1442T>G (p.Ile481Ser) http://identifiers.org/clinvar/68178 ^@ NM_000128.3(F11):c.1507T>C (p.Ser503Pro) http://identifiers.org/clinvar/68179 ^@ NM_000128.3(F11):c.1517A>G (p.Asp506Gly) http://identifiers.org/clinvar/68180 ^@ NM_000128.3(F11):c.151A>C (p.Thr51Pro) http://identifiers.org/clinvar/68181 ^@ NM_000128.3(F11):c.152C>T (p.Thr51Ile) http://identifiers.org/clinvar/68182 ^@ NM_000128.3(F11):c.1531T>C (p.Tyr511His) http://identifiers.org/clinvar/68183 ^@ NM_000128.3(F11):c.1541G>T (p.Cys514Phe) http://identifiers.org/clinvar/68184 ^@ NM_000128.3(F11):c.1578C>G (p.Asp526Glu) http://identifiers.org/clinvar/68185 ^@ NM_000128.3(F11):c.159C>A (p.His53Gln) http://identifiers.org/clinvar/68186 ^@ NM_000128.3(F11):c.1693G>A (p.Glu565Lys) http://identifiers.org/clinvar/68187 ^@ NM_000128.3(F11):c.1724C>T (p.Ser575Leu) http://identifiers.org/clinvar/68188 ^@ NM_000128.3(F11):c.1789G>A (p.Glu597Lys) http://identifiers.org/clinvar/68189 ^@ NM_000128.3(F11):c.1822T>C (p.Tyr608His) http://identifiers.org/clinvar/68190 ^@ NM_000128.3(F11):c.1853T>G (p.Ile618Ser) http://identifiers.org/clinvar/68191 ^@ NM_000128.3(F11):c.188C>T (p.Ala63Val) http://identifiers.org/clinvar/68192 ^@ NM_000128.3(F11):c.302A>G (p.Lys101Arg) http://identifiers.org/clinvar/68193 ^@ NM_000128.3(F11):c.419G>A (p.Cys140Tyr) http://identifiers.org/clinvar/68194 ^@ NM_000128.3(F11):c.452A>G (p.Tyr151Cys) http://identifiers.org/clinvar/68195 ^@ NM_000128.3(F11):c.664G>T (p.Asp222Tyr) http://identifiers.org/clinvar/68196 ^@ NM_000128.3(F11):c.683G>A (p.Arg228Gln) http://identifiers.org/clinvar/68197 ^@ NM_000128.3(F11):c.723C>G (p.Phe241Leu) http://identifiers.org/clinvar/68198 ^@ NM_000128.3(F11):c.738G>C (p.Trp246Cys) http://identifiers.org/clinvar/68199 ^@ NM_000128.3(F11):c.755G>C (p.Arg252Thr) http://identifiers.org/clinvar/68200 ^@ NM_000128.3(F11):c.764G>A (p.Cys255Tyr) http://identifiers.org/clinvar/68201 ^@ NM_000128.3(F11):c.788G>A (p.Gly263Glu) http://identifiers.org/clinvar/68202 ^@ NM_000128.3(F11):c.827C>G (p.Ser276Cys) http://identifiers.org/clinvar/68203 ^@ NM_000128.3(F11):c.830G>A (p.Gly277Asp) http://identifiers.org/clinvar/68204 ^@ NM_000128.3(F11):c.943G>A (p.Glu315Lys) http://identifiers.org/clinvar/68205 ^@ NM_000128.3(F11):c.94G>A (p.Gly32Arg) http://identifiers.org/clinvar/68206 ^@ NM_000128.3(F11):c.959T>C (p.Leu320Pro) http://identifiers.org/clinvar/68207 ^@ NM_000128.3(F11):c.965C>T (p.Thr322Ile) http://identifiers.org/clinvar/68208 ^@ NM_000128.3(F11):c.992C>T (p.Thr331Ile) http://identifiers.org/clinvar/68209 ^@ NM_000101.3(CYBA):c.155T>C (p.Leu52Pro) http://identifiers.org/clinvar/68210 ^@ NM_000101.3(CYBA):c.158A>T (p.Glu53Val) http://identifiers.org/clinvar/68211 ^@ NM_000101.3(CYBA):c.268C>T (p.Arg90Trp) http://identifiers.org/clinvar/68212 ^@ NM_000101.3(CYBA):c.371C>T (p.Ala124Val) http://identifiers.org/clinvar/68213 ^@ NM_000101.3(CYBA):c.74G>T (p.Gly25Val) http://identifiers.org/clinvar/68214 ^@ NM_000211.4(ITGB2):c.2147G>C (p.Gly716Ala) http://identifiers.org/clinvar/68215 ^@ NM_000211.4(ITGB2):c.382G>T (p.Asp128Tyr) http://identifiers.org/clinvar/68216 ^@ NM_000211.4(ITGB2):c.715G>A (p.Ala239Thr) http://identifiers.org/clinvar/68217 ^@ NM_000211.4(ITGB2):c.899A>T (p.Asp300Val) http://identifiers.org/clinvar/68218 ^@ NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu) http://identifiers.org/clinvar/68219 ^@ NM_000383.3(AIRE):c.230T>C (p.Phe77Ser) http://identifiers.org/clinvar/68220 ^@ NM_000383.3(AIRE):c.232T>A (p.Trp78Arg) http://identifiers.org/clinvar/68221 ^@ NM_000383.3(AIRE):c.238G>T (p.Val80Leu) http://identifiers.org/clinvar/68222 ^@ NM_000383.3(AIRE):c.254A>G (p.Tyr85Cys) http://identifiers.org/clinvar/68223 ^@ NM_000383.3(AIRE):c.269A>G (p.Tyr90Cys) http://identifiers.org/clinvar/68224 ^@ NM_000383.3(AIRE):c.278T>G (p.Leu93Arg) http://identifiers.org/clinvar/68225 ^@ NM_000383.3(AIRE):c.43C>T (p.Arg15Cys) http://identifiers.org/clinvar/68226 ^@ NM_000383.3(AIRE):c.44G>T (p.Arg15Leu) http://identifiers.org/clinvar/68227 ^@ NM_000383.3(AIRE):c.47C>T (p.Thr16Met) http://identifiers.org/clinvar/68228 ^@ NM_000383.3(AIRE):c.62C>T (p.Ala21Val) http://identifiers.org/clinvar/68229 ^@ NM_000383.3(AIRE):c.83T>C (p.Leu28Pro) http://identifiers.org/clinvar/68230 ^@ NM_000383.3(AIRE):c.86T>C (p.Leu29Pro) http://identifiers.org/clinvar/68231 ^@ NM_000383.3(AIRE):c.977C>A (p.Pro326Gln) http://identifiers.org/clinvar/68232 ^@ NM_000383.3(AIRE):c.977C>T (p.Pro326Leu) http://identifiers.org/clinvar/68233 ^@ NM_003639.4(IKBKG):c.1250G>A (p.Cys417Tyr) http://identifiers.org/clinvar/68234 ^@ NM_003639.4(IKBKG):c.169G>A (p.Glu57Lys) http://identifiers.org/clinvar/68235 ^@ NM_003639.4(IKBKG):c.337G>A (p.Asp113Asn) http://identifiers.org/clinvar/68236 ^@ NM_003639.4(IKBKG):c.367C>T (p.Arg123Trp) http://identifiers.org/clinvar/68237 ^@ NM_003639.4(IKBKG):c.524G>C (p.Arg175Pro) http://identifiers.org/clinvar/68238 ^@ NM_003639.4(IKBKG):c.680T>C (p.Leu227Pro) http://identifiers.org/clinvar/68239 ^@ NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) http://identifiers.org/clinvar/68240 ^@ NM_003639.4(IKBKG):c.967G>C (p.Ala323Pro) http://identifiers.org/clinvar/68241 ^@ NM_006118.3(HAX1):c.389T>G (p.Leu130Arg) http://identifiers.org/clinvar/68242 ^@ NM_006118.3(HAX1):c.421T>C (p.Phe141Leu) http://identifiers.org/clinvar/68243 ^@ NM_006118.3(HAX1):c.514G>A (p.Val172Ile) http://identifiers.org/clinvar/68244 ^@ NM_000062.2(SERPING1):c.1289T>A (p.Leu430Gln) http://identifiers.org/clinvar/68245 ^@ NM_000062.2(SERPING1):c.1322T>C (p.Met441Thr) http://identifiers.org/clinvar/68246 ^@ NM_000062.2(SERPING1):c.1340T>C (p.Leu447Pro) http://identifiers.org/clinvar/68247 ^@ NM_000062.2(SERPING1):c.1397G>T (p.Arg466Leu) http://identifiers.org/clinvar/68248 ^@ NM_000062.2(SERPING1):c.1418T>G (p.Val473Gly) http://identifiers.org/clinvar/68249 ^@ NM_000062.2(SERPING1):c.1490A>G (p.Asp497Gly) http://identifiers.org/clinvar/68250 ^@ NM_000062.2(SERPING1):c.352A>G (p.Thr118Ala) http://identifiers.org/clinvar/68251 ^@ NM_000062.2(SERPING1):c.461A>G (p.Tyr154Cys) http://identifiers.org/clinvar/68252 ^@ NM_000062.2(SERPING1):c.509C>T (p.Ser170Phe) http://identifiers.org/clinvar/68253 ^@ NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg) http://identifiers.org/clinvar/68254 ^@ NM_000062.2(SERPING1):c.689T>C (p.Leu230Pro) http://identifiers.org/clinvar/68255 ^@ NM_000062.2(SERPING1):c.695T>A (p.Ile232Lys) http://identifiers.org/clinvar/68256 ^@ NM_000062.2(SERPING1):c.895T>C (p.Trp299Arg) http://identifiers.org/clinvar/68257 ^@ NM_000022.3(ADA):c.220G>T (p.Gly74Cys) http://identifiers.org/clinvar/68258 ^@ NM_000022.3(ADA):c.248C>A (p.Ala83Asp) http://identifiers.org/clinvar/68259 ^@ NM_000022.3(ADA):c.302G>T (p.Arg101Leu) http://identifiers.org/clinvar/68260 ^@ NM_000022.3(ADA):c.385G>A (p.Val129Met) http://identifiers.org/clinvar/68261 ^@ NM_000022.3(ADA):c.419G>A (p.Gly140Glu) http://identifiers.org/clinvar/68262 ^@ NM_000022.3(ADA):c.425G>A (p.Arg142Gln) http://identifiers.org/clinvar/68263 ^@ NM_000022.3(ADA):c.43C>G (p.His15Asp) http://identifiers.org/clinvar/68264 ^@ NM_000022.3(ADA):c.445C>T (p.Arg149Trp) http://identifiers.org/clinvar/68265 ^@ NM_000022.3(ADA):c.529G>A (p.Val177Met) http://identifiers.org/clinvar/68266 ^@ NM_000022.3(ADA):c.536C>A (p.Ala179Asp) http://identifiers.org/clinvar/68267 ^@ NM_000022.3(ADA):c.58G>A (p.Gly20Arg) http://identifiers.org/clinvar/68268 ^@ NM_000022.3(ADA):c.596A>C (p.Gln199Pro) http://identifiers.org/clinvar/68269 ^@ NM_001164277.1(SLC37A4):c.1118C>A (p.Ala373Asp) http://identifiers.org/clinvar/68270 ^@ NM_001164277.1(SLC37A4):c.1126G>A (p.Gly376Ser) http://identifiers.org/clinvar/68271 ^@ NM_001164277.1(SLC37A4):c.148G>C (p.Gly50Arg) http://identifiers.org/clinvar/68272 ^@ NM_001164277.1(SLC37A4):c.149G>A (p.Gly50Glu) http://identifiers.org/clinvar/68273 ^@ NM_001164277.1(SLC37A4):c.162C>A (p.Ser54Arg) http://identifiers.org/clinvar/68274 ^@ NM_001164277.1(SLC37A4):c.163A>C (p.Ser55Arg) http://identifiers.org/clinvar/68275 ^@ NM_001164277.1(SLC37A4):c.202G>A (p.Gly68Arg) http://identifiers.org/clinvar/68276 ^@ NM_001164277.1(SLC37A4):c.254T>C (p.Leu85Pro) http://identifiers.org/clinvar/68277 ^@ NM_001164277.1(SLC37A4):c.263G>A (p.Gly88Asp) http://identifiers.org/clinvar/68278 ^@ NM_001164277.1(SLC37A4):c.398A>C (p.Gln133Pro) http://identifiers.org/clinvar/68279 ^@ NM_001164277.1(SLC37A4):c.443C>T (p.Ala148Val) http://identifiers.org/clinvar/68280 ^@ NM_001164277.1(SLC37A4):c.446G>A (p.Gly149Glu) http://identifiers.org/clinvar/68281 ^@ NM_001164277.1(SLC37A4):c.448G>A (p.Gly150Arg) http://identifiers.org/clinvar/68282 ^@ NM_001164277.1(SLC37A4):c.458C>T (p.Pro153Leu) http://identifiers.org/clinvar/68283 ^@ NM_001164277.1(SLC37A4):c.526T>C (p.Cys176Arg) http://identifiers.org/clinvar/68284 ^@ NM_001164277.1(SLC37A4):c.547T>C (p.Cys183Arg) http://identifiers.org/clinvar/68285 ^@ NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) http://identifiers.org/clinvar/68286 ^@ NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) http://identifiers.org/clinvar/68287 ^@ NM_001164277.1(SLC37A4):c.686T>C (p.Leu229Pro) http://identifiers.org/clinvar/68288 ^@ NM_001164277.1(SLC37A4):c.70T>C (p.Tyr24His) http://identifiers.org/clinvar/68289 ^@ NM_001164277.1(SLC37A4):c.736T>C (p.Trp246Arg) http://identifiers.org/clinvar/68290 ^@ NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) http://identifiers.org/clinvar/68291 ^@ NM_001164277.1(SLC37A4):c.82C>T (p.Arg28Cys) http://identifiers.org/clinvar/68292 ^@ NM_001164277.1(SLC37A4):c.833T>A (p.Ile278Asn) http://identifiers.org/clinvar/68293 ^@ NM_001164277.1(SLC37A4):c.898C>T (p.Arg300Cys) http://identifiers.org/clinvar/68294 ^@ NM_001164277.1(SLC37A4):c.899G>A (p.Arg300His) http://identifiers.org/clinvar/68295 ^@ NM_001164277.1(SLC37A4):c.902A>C (p.His301Pro) http://identifiers.org/clinvar/68296 ^@ NM_001042492.2(NF1):c.1010A>T (p.Glu337Val) http://identifiers.org/clinvar/68297 ^@ NM_001042492.2(NF1):c.1013A>G (p.Asp338Gly) http://identifiers.org/clinvar/68298 ^@ NM_001042492.2(NF1):c.1177C>G (p.His393Asp) http://identifiers.org/clinvar/68299 ^@ NM_001042492.2(NF1):c.1178A>T (p.His393Leu) http://identifiers.org/clinvar/68300 ^@ NM_001042492.2(NF1):c.1472A>G (p.Tyr491Cys) http://identifiers.org/clinvar/68301 ^@ NM_001042492.2(NF1):c.1556A>C (p.Gln519Pro) http://identifiers.org/clinvar/68302 ^@ NM_000267.3(NF1):c.1595T>C (p.Leu532Pro) http://identifiers.org/clinvar/68303 ^@ NM_001042492.2(NF1):c.1646T>C (p.Leu549Pro) http://identifiers.org/clinvar/68304 ^@ NM_001042492.2(NF1):c.1733T>G (p.Leu578Arg) http://identifiers.org/clinvar/68305 ^@ NM_001042492.2(NF1):c.1742T>C (p.Ile581Thr) http://identifiers.org/clinvar/68306 ^@ NM_001042492.2(NF1):c.1748A>G (p.Lys583Arg) http://identifiers.org/clinvar/68307 ^@ NM_001042492.2(NF1):c.1810T>G (p.Leu604Val) http://identifiers.org/clinvar/68308 ^@ NM_001042492.2(NF1):c.1885G>A (p.Gly629Arg) http://identifiers.org/clinvar/68309 ^@ NM_001042492.2(NF1):c.2084T>C (p.Leu695Pro) http://identifiers.org/clinvar/68310 ^@ NM_001042492.2(NF1):c.2135A>G (p.His712Arg) http://identifiers.org/clinvar/68311 ^@ NM_001042492.2(NF1):c.221C>A (p.Ala74Asp) http://identifiers.org/clinvar/68312 ^@ NM_001042492.2(NF1):c.2288T>C (p.Leu763Pro) http://identifiers.org/clinvar/68313 ^@ NM_000267.3(NF1):c.2294G>A (p.Arg765His) http://identifiers.org/clinvar/68314 ^@ NM_001042492.2(NF1):c.2326G>A (p.Ala776Thr) http://identifiers.org/clinvar/68315 ^@ NM_001042492.2(NF1):c.2330G>C (p.Trp777Ser) http://identifiers.org/clinvar/68316 ^@ NM_001042492.2(NF1):c.2339C>A (p.Thr780Lys) http://identifiers.org/clinvar/68317 ^@ NM_001042492.2(NF1):c.2342A>C (p.His781Pro) http://identifiers.org/clinvar/68318 ^@ NM_001042492.2(NF1):c.2350T>C (p.Trp784Arg) http://identifiers.org/clinvar/68319 ^@ NM_001042492.2(NF1):c.2352G>C (p.Trp784Cys) http://identifiers.org/clinvar/68320 ^@ NM_001042492.2(NF1):c.245C>T (p.Ser82Phe) http://identifiers.org/clinvar/68321 ^@ NM_001042492.2(NF1):c.2530C>T (p.Leu844Phe) http://identifiers.org/clinvar/68322 ^@ NM_001042492.2(NF1):c.2531T>C (p.Leu844Pro) http://identifiers.org/clinvar/68323 ^@ NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro) http://identifiers.org/clinvar/68324 ^@ NM_001042492.2(NF1):c.2543G>A (p.Gly848Glu) http://identifiers.org/clinvar/68325 ^@ NM_001042492.2(NF1):c.2617C>T (p.Arg873Cys) http://identifiers.org/clinvar/68326 ^@ NM_001042492.2(NF1):c.2693T>C (p.Leu898Pro) http://identifiers.org/clinvar/68327 ^@ NM_001042492.2(NF1):c.2759T>C (p.Leu920Pro) http://identifiers.org/clinvar/68328 ^@ NM_001042492.2(NF1):c.278G>A (p.Cys93Tyr) http://identifiers.org/clinvar/68329 ^@ NM_001042492.2(NF1):c.2903T>G (p.Met968Arg) http://identifiers.org/clinvar/68330 ^@ NM_001042492.2(NF1):c.3217A>G (p.Met1073Val) http://identifiers.org/clinvar/68331 ^@ NM_001042492.2(NF1):c.3440T>C (p.Leu1147Pro) http://identifiers.org/clinvar/68332 ^@ NM_001042492.2(NF1):c.3467A>G (p.Asn1156Ser) http://identifiers.org/clinvar/68333 ^@ NM_001042492.2(NF1):c.3497G>A (p.Gly1166Asp) http://identifiers.org/clinvar/68334 ^@ NM_001042492.2(NF1):c.350T>G (p.Ile117Ser) http://identifiers.org/clinvar/68335 ^@ NM_001042492.2(NF1):c.3578T>G (p.Phe1193Cys) http://identifiers.org/clinvar/68336 ^@ NM_001042492.2(NF1):c.3587T>G (p.Leu1196Arg) http://identifiers.org/clinvar/68337 ^@ NM_001042492.2(NF1):c.3610C>G (p.Arg1204Gly) http://identifiers.org/clinvar/68338 ^@ NM_001042492.2(NF1):c.3610C>T (p.Arg1204Trp) http://identifiers.org/clinvar/68339 ^@ NM_001042492.2(NF1):c.3749G>C (p.Arg1250Pro) http://identifiers.org/clinvar/68340 ^@ NM_001042492.2(NF1):c.3826C>G (p.Arg1276Gly) http://identifiers.org/clinvar/68341 ^@ NM_001042492.2(NF1):c.3827G>A (p.Arg1276Gln) http://identifiers.org/clinvar/68342 ^@ NM_001042492.2(NF1):c.4318A>C (p.Lys1440Gln) http://identifiers.org/clinvar/68343 ^@ NM_001042492.2(NF1):c.4319A>G (p.Lys1440Arg) http://identifiers.org/clinvar/68344 ^@ NM_001042492.2(NF1):c.4331A>G (p.Lys1444Arg) http://identifiers.org/clinvar/68345 ^@ NM_001042492.2(NF1):c.4332G>T (p.Lys1444Asn) http://identifiers.org/clinvar/68346 ^@ NM_001042492.2(NF1):c.4337T>C (p.Leu1446Pro) http://identifiers.org/clinvar/68347 ^@ NM_001042492.2(NF1):c.434T>C (p.Leu145Pro) http://identifiers.org/clinvar/68348 ^@ NM_001042492.2(NF1):c.4352A>C (p.Asn1451Thr) http://identifiers.org/clinvar/68349 ^@ NM_001042492.2(NF1):c.4357G>C (p.Val1453Leu) http://identifiers.org/clinvar/68350 ^@ NM_001042492.2(NF1):c.4451C>T (p.Ser1484Phe) http://identifiers.org/clinvar/68351 ^@ NM_001042492.2(NF1):c.4465A>G (p.Ser1489Gly) http://identifiers.org/clinvar/68352 ^@ NM_001042492.2(NF1):c.470T>A (p.Ile157Asn) http://identifiers.org/clinvar/68353 ^@ NM_001042492.2(NF1):c.479G>C (p.Arg160Thr) http://identifiers.org/clinvar/68354 ^@ NM_001042492.2(NF1):c.4813A>G (p.Ile1605Val) http://identifiers.org/clinvar/68355 ^@ NM_001042492.2(NF1):c.5353G>T (p.Ala1785Ser) http://identifiers.org/clinvar/68356 ^@ NM_001042492.2(NF1):c.581T>G (p.Leu194Arg) http://identifiers.org/clinvar/68357 ^@ NM_001042492.2(NF1):c.5854T>C (p.Trp1952Arg) http://identifiers.org/clinvar/68358 ^@ NM_001042492.2(NF1):c.6001G>A (p.Gly2001Arg) http://identifiers.org/clinvar/68359 ^@ NM_001042492.2(NF1):c.6034G>A (p.Asp2012Asn) http://identifiers.org/clinvar/68360 ^@ NM_001042492.2(NF1):c.647T>C (p.Leu216Pro) http://identifiers.org/clinvar/68361 ^@ NM_001042492.2(NF1):c.6661C>G (p.Pro2221Ala) http://identifiers.org/clinvar/68362 ^@ NM_001042492.2(NF1):c.7069G>A (p.Glu2357Lys) http://identifiers.org/clinvar/68363 ^@ NM_001042492.2(NF1):c.7891A>G (p.Thr2631Ala) http://identifiers.org/clinvar/68364 ^@ NM_001042492.2(NF1):c.92A>G (p.His31Arg) http://identifiers.org/clinvar/68365 ^@ NM_001042492.2(NF1):c.970T>C (p.Cys324Arg) http://identifiers.org/clinvar/68366 ^@ NM_001042492.2(NF1):c.988G>A (p.Ala330Thr) http://identifiers.org/clinvar/68367 ^@ NM_000397.3(CYBB):c.1012C>T (p.His338Tyr) http://identifiers.org/clinvar/68368 ^@ NM_000397.3(CYBB):c.1016C>A (p.Pro339His) http://identifiers.org/clinvar/68369 ^@ NM_000397.3(CYBB):c.1025T>A (p.Leu342Gln) http://identifiers.org/clinvar/68370 ^@ NM_000397.3(CYBB):c.1031C>T (p.Ser344Phe) http://identifiers.org/clinvar/68371 ^@ NM_000397.3(CYBB):c.1067G>C (p.Arg356Pro) http://identifiers.org/clinvar/68372 ^@ NM_000397.3(CYBB):c.1090G>C (p.Gly364Arg) http://identifiers.org/clinvar/68373 ^@ NM_000397.3(CYBB):c.1166G>A (p.Gly389Glu) http://identifiers.org/clinvar/68374 ^@ NM_000397.3(CYBB):c.1214T>G (p.Met405Arg) http://identifiers.org/clinvar/68375 ^@ NM_000397.3(CYBB):c.121T>G (p.Tyr41Asp) http://identifiers.org/clinvar/68376 ^@ NM_000397.3(CYBB):c.1222G>A (p.Gly408Arg) http://identifiers.org/clinvar/68377 ^@ NM_000397.3(CYBB):c.1223G>A (p.Gly408Glu) http://identifiers.org/clinvar/68378 ^@ NM_000397.3(CYBB):c.1244C>T (p.Pro415Leu) http://identifiers.org/clinvar/68379 ^@ NM_000397.3(CYBB):c.1259T>C (p.Leu420Pro) http://identifiers.org/clinvar/68380 ^@ NM_000397.3(CYBB):c.1264T>C (p.Ser422Pro) http://identifiers.org/clinvar/68381 ^@ NM_000397.3(CYBB):c.1357T>C (p.Trp453Arg) http://identifiers.org/clinvar/68382 ^@ NM_000397.3(CYBB):c.1514T>G (p.Leu505Arg) http://identifiers.org/clinvar/68383 ^@ NM_000397.3(CYBB):c.1546T>C (p.Trp516Arg) http://identifiers.org/clinvar/68384 ^@ NM_000397.3(CYBB):c.1548G>T (p.Trp516Cys) http://identifiers.org/clinvar/68385 ^@ NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu) http://identifiers.org/clinvar/68386 ^@ NM_000397.3(CYBB):c.1609T>C (p.Cys537Arg) http://identifiers.org/clinvar/68387 ^@ NM_000397.3(CYBB):c.161G>T (p.Arg54Met) http://identifiers.org/clinvar/68388 ^@ NM_000397.3(CYBB):c.162G>C (p.Arg54Ser) http://identifiers.org/clinvar/68389 ^@ NM_000397.3(CYBB):c.1637T>C (p.Leu546Pro) http://identifiers.org/clinvar/68390 ^@ NM_000397.3(CYBB):c.164C>A (p.Ala55Asp) http://identifiers.org/clinvar/68391 ^@ NM_000397.3(CYBB):c.170C>A (p.Ala57Glu) http://identifiers.org/clinvar/68392 ^@ NM_000397.3(CYBB):c.175T>C (p.Cys59Arg) http://identifiers.org/clinvar/68393 ^@ NM_000397.3(CYBB):c.177C>G (p.Cys59Trp) http://identifiers.org/clinvar/68394 ^@ NM_000397.3(CYBB):c.356A>G (p.His119Arg) http://identifiers.org/clinvar/68395 ^@ NM_000397.3(CYBB):c.535G>A (p.Gly179Arg) http://identifiers.org/clinvar/68396 ^@ NM_000397.3(CYBB):c.578C>T (p.Ser193Phe) http://identifiers.org/clinvar/68397 ^@ NM_000397.3(CYBB):c.58G>C (p.Gly20Arg) http://identifiers.org/clinvar/68398 ^@ NM_000397.3(CYBB):c.613T>A (p.Phe205Ile) http://identifiers.org/clinvar/68399 ^@ NM_000397.3(CYBB):c.626A>G (p.His209Arg) http://identifiers.org/clinvar/68400 ^@ NM_000397.3(CYBB):c.627T>A (p.His209Gln) http://identifiers.org/clinvar/68401 ^@ NM_000397.3(CYBB):c.664C>A (p.His222Asn) http://identifiers.org/clinvar/68402 ^@ NM_000397.3(CYBB):c.664C>T (p.His222Tyr) http://identifiers.org/clinvar/68403 ^@ NM_000397.3(CYBB):c.665A>G (p.His222Arg) http://identifiers.org/clinvar/68404 ^@ NM_000397.3(CYBB):c.667G>T (p.Gly223Ter) http://identifiers.org/clinvar/68405 ^@ NM_000397.3(CYBB):c.668G>T (p.Gly223Val) http://identifiers.org/clinvar/68406 ^@ NM_000397.3(CYBB):c.671C>G (p.Ala224Gly) http://identifiers.org/clinvar/68407 ^@ NM_000397.3(CYBB):c.674A>T (p.Glu225Val) http://identifiers.org/clinvar/68409 ^@ NM_000397.3(CYBB):c.730T>C (p.Cys244Arg) http://identifiers.org/clinvar/68410 ^@ NM_000397.3(CYBB):c.731G>A (p.Cys244Tyr) http://identifiers.org/clinvar/68411 ^@ NM_000397.3(CYBB):c.919A>C (p.Thr307Pro) http://identifiers.org/clinvar/68412 ^@ NM_000397.3(CYBB):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/68413 ^@ NM_000397.3(CYBB):c.965G>A (p.Gly322Glu) http://identifiers.org/clinvar/68414 ^@ NM_000397.3(CYBB):c.973A>T (p.Ile325Phe) http://identifiers.org/clinvar/68415 ^@ NM_000397.3(CYBB):c.997T>C (p.Ser333Pro) http://identifiers.org/clinvar/68416 ^@ NM_001363.4(DKC1):c.166_167delCTinsTC (p.Leu56Ser) http://identifiers.org/clinvar/68417 ^@ NM_001363.4(DKC1):c.214C>T (p.Leu72Phe) http://identifiers.org/clinvar/68418 ^@ NM_001127221.1(CACNA1A):c.1165C>T (p.Leu389Phe) http://identifiers.org/clinvar/68419 ^@ NM_001127221.1(CACNA1A):c.1213G>A (p.Ala405Thr) http://identifiers.org/clinvar/68420 ^@ NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) http://identifiers.org/clinvar/68421 ^@ NM_001127221.1(CACNA1A):c.1502C>T (p.Thr501Met) http://identifiers.org/clinvar/68422 ^@ NM_001127221.1(CACNA1A):c.1913G>A (p.Gly638Asp) http://identifiers.org/clinvar/68423 ^@ NM_001127221.1(CACNA1A):c.2145C>G (p.Asp715Glu) http://identifiers.org/clinvar/68424 ^@ NM_001127221.1(CACNA1A):c.2393T>C (p.Met798Thr) http://identifiers.org/clinvar/68425 ^@ NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) http://identifiers.org/clinvar/68426 ^@ NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) http://identifiers.org/clinvar/68427 ^@ NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) http://identifiers.org/clinvar/68428 ^@ NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) http://identifiers.org/clinvar/68429 ^@ NM_001127221.1(CACNA1A):c.4003A>G (p.Lys1335Glu) http://identifiers.org/clinvar/68430 ^@ NM_001127221.1(CACNA1A):c.4444G>A (p.Gly1482Arg) http://identifiers.org/clinvar/68431 ^@ NM_001127221.1(CACNA1A):c.4477G>A (p.Val1493Ile) http://identifiers.org/clinvar/68432 ^@ NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) http://identifiers.org/clinvar/68433 ^@ NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) http://identifiers.org/clinvar/68434 ^@ NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys) http://identifiers.org/clinvar/68435 ^@ NM_001127221.1(CACNA1A):c.5047T>C (p.Trp1683Arg) http://identifiers.org/clinvar/68436 ^@ NM_001127221.1(CACNA1A):c.5083G>A (p.Val1695Ile) http://identifiers.org/clinvar/68437 ^@ NM_001127221.1(CACNA1A):c.5207A>T (p.His1736Leu) http://identifiers.org/clinvar/68438 ^@ NM_001127221.1(CACNA1A):c.5605T>C (p.Cys1869Arg) http://identifiers.org/clinvar/68439 ^@ NM_001127221.1(CACNA1A):c.584G>A (p.Arg195Lys) http://identifiers.org/clinvar/68440 ^@ NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) http://identifiers.org/clinvar/68441 ^@ NM_001127221.1(CACNA1A):c.743A>G (p.Tyr248Cys) http://identifiers.org/clinvar/68442 ^@ NM_001127221.1(CACNA1A):c.757C>T (p.His253Tyr) http://identifiers.org/clinvar/68443 ^@ NM_001127221.1(CACNA1A):c.766T>C (p.Cys256Arg) http://identifiers.org/clinvar/68444 ^@ NM_005745.7(BCAP31):c.194-2A>G http://identifiers.org/clinvar/68445 ^@ NC_000023.11:g.153696346_153701690del http://identifiers.org/clinvar/68446 ^@ NM_005745.7(BCAP31):c.97C>T (p.Gln33Ter) http://identifiers.org/clinvar/68447 ^@ DYX1C1, 3.5-KB DEL http://identifiers.org/clinvar/68448 ^@ NM_001033560.1(DNAAF4):c.808C>T (p.Arg270Ter) http://identifiers.org/clinvar/68449 ^@ NM_001033560.1(DNAAF4):c.325G>T (p.Glu109Ter) http://identifiers.org/clinvar/68450 ^@ DYX1C1, 1-BP DEL, 583A http://identifiers.org/clinvar/68451 ^@ NM_030632.2(ASXL3):c.1210C>T (p.Gln404Ter) http://identifiers.org/clinvar/68452 ^@ NM_030632.2(ASXL3):c.1396C>T (p.Gln466Ter) http://identifiers.org/clinvar/68453 ^@ ASXL3, 4-BP DEL http://identifiers.org/clinvar/68454 ^@ ASXL3, 1-BP INS http://identifiers.org/clinvar/68456 ^@ NM_000394.3(CRYAA):c.292G>A (p.Gly98Arg) http://identifiers.org/clinvar/68457 ^@ NM_000394.3(CRYAA):c.160C>T (p.Arg54Cys) http://identifiers.org/clinvar/68459 ^@ NM_000394.3(CRYAA):c.34C>T (p.Arg12Cys) http://identifiers.org/clinvar/68460 ^@ NM_000394.3(CRYAA):c.61C>T (p.Arg21Trp) http://identifiers.org/clinvar/68461 ^@ NM_000394.3(CRYAA):c.62G>A (p.Arg21Gln) http://identifiers.org/clinvar/68462 ^@ NM_006891.3(CRYGD):c.402C>A (p.Tyr134Ter) http://identifiers.org/clinvar/68463 ^@ NM_004990.3(MARS):c.1108T>C (p.Phe370Leu) http://identifiers.org/clinvar/68464 ^@ NM_004990.3(MARS):c.1568T>C (p.Ile523Thr) http://identifiers.org/clinvar/68465 ^@ NM_005267.4(GJA8):c.566C>T (p.Pro189Leu) http://identifiers.org/clinvar/68466 ^@ NM_000104.3(CYP1B1):c.1200_1209dupTCATGCCACC (p.Thr404Serfs) http://identifiers.org/clinvar/68467 ^@ NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) http://identifiers.org/clinvar/68468 ^@ NM_000104.3(CYP1B1):c.868dupC (p.Arg290Profs) http://identifiers.org/clinvar/68469 ^@ NM_000280.4(PAX6):c.152G>T (p.Gly51Val) http://identifiers.org/clinvar/68470 ^@ NM_001195.4(BFSP1):c.1995_1996delTT (p.Ter666Lysfs) http://identifiers.org/clinvar/68471 ^@ NM_001161705.1(BFSP1):c.401G>C (p.Cys134Ser) http://identifiers.org/clinvar/68472 ^@ NM_005208.4(CRYBA1):c.475G>A (p.Gly159Ser) http://identifiers.org/clinvar/68473 ^@ NM_005689.2(ABCB6):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/68474 ^@ NM_020634.2(GDF3):c.974C>T (p.Pro325Leu) http://identifiers.org/clinvar/68475 ^@ NM_020989.3(CRYGC):c.497C>T (p.Ser166Phe) http://identifiers.org/clinvar/68476 ^@ NM_213606.3(SLC16A12):c.472T>C (p.Ser158Pro) http://identifiers.org/clinvar/68478 ^@ NM_000404.3(GLB1):c.319T>C (p.Phe107Leu) http://identifiers.org/clinvar/68479 ^@ NM_000404.3(GLB1):c.518T>C (p.Leu173Pro) http://identifiers.org/clinvar/68480 ^@ NM_000404.3(GLB1):c.456A>T (p.Pro152=) http://identifiers.org/clinvar/68482 ^@ NM_000249.3(MLH1):c.207+12C>T http://identifiers.org/clinvar/68483 ^@ NM_000218.2(KCNQ1):c.925A>T (p.Thr309Ser) http://identifiers.org/clinvar/68484 ^@ NM_000433.3(NCF2):c.1105G>A (p.Gly369Arg) http://identifiers.org/clinvar/68485 ^@ NM_000433.3(NCF2):c.125A>G (p.Asn42Ser) http://identifiers.org/clinvar/68486 ^@ NM_000433.3(NCF2):c.130G>C (p.Gly44Arg) http://identifiers.org/clinvar/68487 ^@ NM_000433.3(NCF2):c.130G>T (p.Gly44Cys) http://identifiers.org/clinvar/68488 ^@ NM_000433.3(NCF2):c.233G>A (p.Gly78Glu) http://identifiers.org/clinvar/68489 ^@ NM_000433.3(NCF2):c.235A>G (p.Met79Val) http://identifiers.org/clinvar/68490 ^@ NM_000433.3(NCF2):c.279C>G (p.Asp93Glu) http://identifiers.org/clinvar/68491 ^@ NM_000433.3(NCF2):c.305G>C (p.Arg102Pro) http://identifiers.org/clinvar/68492 ^@ NM_000433.3(NCF2):c.323A>T (p.Asp108Val) http://identifiers.org/clinvar/68493 ^@ NM_000433.3(NCF2):c.409T>A (p.Trp137Arg) http://identifiers.org/clinvar/68494 ^@ NM_000433.3(NCF2):c.419C>A (p.Ala140Asp) http://identifiers.org/clinvar/68495 ^@ NM_000433.3(NCF2):c.505C>G (p.Gln169Glu) http://identifiers.org/clinvar/68496 ^@ NM_000433.3(NCF2):c.551G>C (p.Arg184Pro) http://identifiers.org/clinvar/68497 ^@ NM_000433.3(NCF2):c.605C>T (p.Ala202Val) http://identifiers.org/clinvar/68498 ^@ NM_000433.3(NCF2):c.983G>A (p.Arg328Lys) http://identifiers.org/clinvar/68499 ^@ NM_006920.4(SCN1A):c.1066A>G (p.Arg356Gly) http://identifiers.org/clinvar/68500 ^@ NM_006920.4(SCN1A):c.1072C>A (p.Pro358Thr) http://identifiers.org/clinvar/68501 ^@ NM_006920.4(SCN1A):c.1098T>A (p.Asp366Glu) http://identifiers.org/clinvar/68502 ^@ NM_006920.4(SCN1A):c.1130G>A (p.Arg377Gln) http://identifiers.org/clinvar/68503 ^@ NM_006920.4(SCN1A):c.1149C>G (p.Phe383Leu) http://identifiers.org/clinvar/68504 ^@ NM_006920.4(SCN1A):c.1177C>A (p.Arg393Ser) http://identifiers.org/clinvar/68505 ^@ NM_006920.4(SCN1A):c.1177C>T (p.Arg393Cys) http://identifiers.org/clinvar/68506 ^@ NM_006920.4(SCN1A):c.1178G>A (p.Arg393His) http://identifiers.org/clinvar/68507 ^@ NM_006920.4(SCN1A):c.1183G>C (p.Ala395Pro) http://identifiers.org/clinvar/68508 ^@ NM_006920.4(SCN1A):c.1207T>C (p.Phe403Leu) http://identifiers.org/clinvar/68509 ^@ NM_006920.4(SCN1A):c.1237T>A (p.Tyr413Asn) http://identifiers.org/clinvar/68510 ^@ NM_006920.4(SCN1A):c.1265T>A (p.Val422Glu) http://identifiers.org/clinvar/68511 ^@ NM_006920.4(SCN1A):c.1276T>A (p.Tyr426Asn) http://identifiers.org/clinvar/68512 ^@ NM_006920.4(SCN1A):c.1876A>G (p.Ser626Gly) http://identifiers.org/clinvar/68513 ^@ NM_006920.4(SCN1A):c.187T>C (p.Phe63Leu) http://identifiers.org/clinvar/68514 ^@ NM_006920.4(SCN1A):c.220T>C (p.Ser74Pro) http://identifiers.org/clinvar/68515 ^@ NM_006920.4(SCN1A):c.2315T>C (p.Leu772Pro) http://identifiers.org/clinvar/68516 ^@ NM_006920.4(SCN1A):c.234G>T (p.Glu78Asp) http://identifiers.org/clinvar/68517 ^@ NM_006920.4(SCN1A):c.235G>C (p.Asp79His) http://identifiers.org/clinvar/68518 ^@ NM_006920.4(SCN1A):c.2402C>G (p.Thr801Arg) http://identifiers.org/clinvar/68519 ^@ NM_006920.4(SCN1A):c.2503G>A (p.Glu835Lys) http://identifiers.org/clinvar/68520 ^@ NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys) http://identifiers.org/clinvar/68521 ^@ NM_006920.4(SCN1A):c.2792T>C (p.Leu931Pro) http://identifiers.org/clinvar/68522 ^@ NM_006920.4(SCN1A):c.2800T>C (p.Phe934Leu) http://identifiers.org/clinvar/68523 ^@ NM_006920.4(SCN1A):c.2804G>A (p.Arg935His) http://identifiers.org/clinvar/68524 ^@ NM_006920.4(SCN1A):c.2816G>A (p.Gly939Glu) http://identifiers.org/clinvar/68525 ^@ NM_006920.4(SCN1A):c.2837G>T (p.Trp946Leu) http://identifiers.org/clinvar/68526 ^@ NM_006920.4(SCN1A):c.2884A>G (p.Met962Val) http://identifiers.org/clinvar/68527 ^@ NM_006920.4(SCN1A):c.301C>T (p.Arg101Trp) http://identifiers.org/clinvar/68528 ^@ NM_006920.4(SCN1A):c.302G>A (p.Arg101Gln) http://identifiers.org/clinvar/68529 ^@ NM_006920.4(SCN1A):c.354G>C (p.Arg118Ser) http://identifiers.org/clinvar/68530 ^@ NM_006920.4(SCN1A):c.3587T>C (p.Leu1196Pro) http://identifiers.org/clinvar/68531 ^@ NM_006920.4(SCN1A):c.3664G>C (p.Gly1222Arg) http://identifiers.org/clinvar/68532 ^@ NM_006920.4(SCN1A):c.3681A>C (p.Glu1227Asp) http://identifiers.org/clinvar/68533 ^@ NM_006920.4(SCN1A):c.3701G>A (p.Arg1234Gln) http://identifiers.org/clinvar/68534 ^@ NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) http://identifiers.org/clinvar/68535 ^@ NM_006920.4(SCN1A):c.3970G>A (p.Val1324Met) http://identifiers.org/clinvar/68536 ^@ NM_006920.4(SCN1A):c.4040G>C (p.Trp1347Ser) http://identifiers.org/clinvar/68537 ^@ NM_006920.4(SCN1A):c.4135G>A (p.Val1379Met) http://identifiers.org/clinvar/68538 ^@ NM_006920.4(SCN1A):c.4153T>G (p.Cys1385Gly) http://identifiers.org/clinvar/68539 ^@ NM_006920.4(SCN1A):c.4207A>T (p.Asn1403Tyr) http://identifiers.org/clinvar/68540 ^@ NM_006920.4(SCN1A):c.4232A>G (p.Tyr1411Cys) http://identifiers.org/clinvar/68541 ^@ NM_006920.4(SCN1A):c.4244T>G (p.Leu1415Arg) http://identifiers.org/clinvar/68542 ^@ NM_006920.4(SCN1A):c.4264G>A (p.Gly1422Arg) http://identifiers.org/clinvar/68543 ^@ NM_006920.4(SCN1A):c.4288G>C (p.Ala1430Pro) http://identifiers.org/clinvar/68544 ^@ NM_006920.4(SCN1A):c.4319C>T (p.Pro1440Leu) http://identifiers.org/clinvar/68545 ^@ NM_006920.4(SCN1A):c.4352A>G (p.Tyr1451Cys) http://identifiers.org/clinvar/68546 ^@ NM_006920.4(SCN1A):c.4355T>C (p.Phe1452Ser) http://identifiers.org/clinvar/68547 ^@ NM_006920.4(SCN1A):c.4375G>T (p.Gly1459Trp) http://identifiers.org/clinvar/68548 ^@ NM_006920.4(SCN1A):c.4391T>C (p.Leu1464Ser) http://identifiers.org/clinvar/68549 ^@ NM_006920.4(SCN1A):c.4406G>T (p.Gly1469Val) http://identifiers.org/clinvar/68550 ^@ NM_006920.4(SCN1A):c.4595T>C (p.Phe1532Ser) http://identifiers.org/clinvar/68551 ^@ NM_006920.4(SCN1A):c.4600A>G (p.Ile1534Val) http://identifiers.org/clinvar/68552 ^@ NM_006920.4(SCN1A):c.4729T>C (p.Cys1577Arg) http://identifiers.org/clinvar/68553 ^@ NM_006920.4(SCN1A):c.4753C>T (p.Arg1585Cys) http://identifiers.org/clinvar/68554 ^@ NM_006920.4(SCN1A):c.4789G>T (p.Asp1597Tyr) http://identifiers.org/clinvar/68555 ^@ NM_006920.4(SCN1A):c.484A>C (p.Thr162Pro) http://identifiers.org/clinvar/68556 ^@ NM_006920.4(SCN1A):c.4855G>A (p.Val1619Met) http://identifiers.org/clinvar/68557 ^@ NM_006920.4(SCN1A):c.4874G>A (p.Arg1625Gln) http://identifiers.org/clinvar/68558 ^@ NM_006920.4(SCN1A):c.4901G>A (p.Arg1634Gln) http://identifiers.org/clinvar/68559 ^@ NM_006920.4(SCN1A):c.4937G>A (p.Arg1646His) http://identifiers.org/clinvar/68560 ^@ NM_006920.4(SCN1A):c.4940C>G (p.Thr1647Arg) http://identifiers.org/clinvar/68561 ^@ NM_006920.4(SCN1A):c.4969C>G (p.Pro1657Ala) http://identifiers.org/clinvar/68562 ^@ NM_006920.4(SCN1A):c.5027T>C (p.Phe1676Ser) http://identifiers.org/clinvar/68563 ^@ NM_006920.4(SCN1A):c.5086T>G (p.Phe1696Val) http://identifiers.org/clinvar/68564 ^@ NM_006920.4(SCN1A):c.5108T>G (p.Met1703Arg) http://identifiers.org/clinvar/68565 ^@ NM_006920.4(SCN1A):c.5113T>C (p.Cys1705Arg) http://identifiers.org/clinvar/68566 ^@ NM_006920.4(SCN1A):c.5129C>G (p.Thr1710Arg) http://identifiers.org/clinvar/68567 ^@ NM_006920.4(SCN1A):c.5252G>A (p.Gly1751Glu) http://identifiers.org/clinvar/68568 ^@ NM_006920.4(SCN1A):c.5285C>T (p.Ser1762Phe) http://identifiers.org/clinvar/68569 ^@ NM_006920.4(SCN1A):c.5306T>C (p.Met1769Thr) http://identifiers.org/clinvar/68570 ^@ NM_006920.4(SCN1A):c.5314G>A (p.Ala1772Thr) http://identifiers.org/clinvar/68571 ^@ NM_006920.4(SCN1A):c.5315C>T (p.Ala1772Val) http://identifiers.org/clinvar/68572 ^@ NM_006920.4(SCN1A):c.5326G>A (p.Glu1776Lys) http://identifiers.org/clinvar/68573 ^@ NM_006920.4(SCN1A):c.5732T>C (p.Ile1911Thr) http://identifiers.org/clinvar/68574 ^@ NM_006920.4(SCN1A):c.5749C>G (p.Arg1917Gly) http://identifiers.org/clinvar/68575 ^@ NM_006920.4(SCN1A):c.580G>A (p.Asp194Asn) http://identifiers.org/clinvar/68576 ^@ NM_006920.4(SCN1A):c.596C>G (p.Thr199Arg) http://identifiers.org/clinvar/68577 ^@ NM_006920.4(SCN1A):c.650C>A (p.Thr217Lys) http://identifiers.org/clinvar/68578 ^@ NM_006920.4(SCN1A):c.677C>T (p.Thr226Met) http://identifiers.org/clinvar/68579 ^@ NM_006920.4(SCN1A):c.680T>G (p.Ile227Ser) http://identifiers.org/clinvar/68580 ^@ NM_006920.4(SCN1A):c.715G>A (p.Ala239Thr) http://identifiers.org/clinvar/68581 ^@ NM_006920.4(SCN1A):c.716C>T (p.Ala239Val) http://identifiers.org/clinvar/68582 ^@ NM_006920.4(SCN1A):c.80G>C (p.Arg27Thr) http://identifiers.org/clinvar/68583 ^@ NM_006920.4(SCN1A):c.838T>C (p.Trp280Arg) http://identifiers.org/clinvar/68584 ^@ NM_006920.4(SCN1A):c.965G>T (p.Arg322Ile) http://identifiers.org/clinvar/68585 ^@ NM_006920.4(SCN1A):c.1028G>A (p.Gly343Asp) http://identifiers.org/clinvar/68586 ^@ NM_006920.4(SCN1A):c.1162T>C (p.Tyr388His) http://identifiers.org/clinvar/68587 ^@ NM_006920.4(SCN1A):c.1216G>T (p.Val406Phe) http://identifiers.org/clinvar/68588 ^@ NM_006920.4(SCN1A):c.1625G>A (p.Arg542Gln) http://identifiers.org/clinvar/68589 ^@ NM_006920.4(SCN1A):c.1811G>A (p.Arg604His) http://identifiers.org/clinvar/68590 ^@ NM_006920.4(SCN1A):c.2336A>G (p.Tyr779Cys) http://identifiers.org/clinvar/68591 ^@ NM_006920.4(SCN1A):c.2389A>T (p.Thr797Ser) http://identifiers.org/clinvar/68592 ^@ NM_006920.4(SCN1A):c.2542C>T (p.Arg848Cys) http://identifiers.org/clinvar/68593 ^@ NM_006920.4(SCN1A):c.2552G>A (p.Arg851Gln) http://identifiers.org/clinvar/68594 ^@ NM_006920.4(SCN1A):c.2591C>A (p.Thr864Lys) http://identifiers.org/clinvar/68595 ^@ NM_006920.4(SCN1A):c.2672T>G (p.Phe891Cys) http://identifiers.org/clinvar/68596 ^@ NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser) http://identifiers.org/clinvar/68597 ^@ NM_006920.4(SCN1A):c.272T>C (p.Ile91Thr) http://identifiers.org/clinvar/68598 ^@ NM_006920.4(SCN1A):c.2758C>T (p.Arg920Cys) http://identifiers.org/clinvar/68599 ^@ NM_006920.4(SCN1A):c.2769G>C (p.Met923Ile) http://identifiers.org/clinvar/68600 ^@ NM_006920.4(SCN1A):c.2782C>T (p.His928Tyr) http://identifiers.org/clinvar/68601 ^@ NM_006920.4(SCN1A):c.2784C>G (p.His928Gln) http://identifiers.org/clinvar/68602 ^@ NM_006920.4(SCN1A):c.2798T>C (p.Val933Ala) http://identifiers.org/clinvar/68603 ^@ NM_006920.4(SCN1A):c.2803C>A (p.Arg935Ser) http://identifiers.org/clinvar/68604 ^@ NM_006920.4(SCN1A):c.2803C>T (p.Arg935Cys) http://identifiers.org/clinvar/68605 ^@ NM_006920.4(SCN1A):c.2821T>G (p.Trp941Gly) http://identifiers.org/clinvar/68606 ^@ NM_006920.4(SCN1A):c.2827G>A (p.Glu943Lys) http://identifiers.org/clinvar/68607 ^@ NM_006920.4(SCN1A):c.2842T>C (p.Cys948Arg) http://identifiers.org/clinvar/68608 ^@ NM_006920.4(SCN1A):c.2845A>G (p.Met949Val) http://identifiers.org/clinvar/68609 ^@ NM_006920.4(SCN1A):c.2902G>A (p.Gly968Arg) http://identifiers.org/clinvar/68610 ^@ NM_006920.4(SCN1A):c.2915T>C (p.Val972Ala) http://identifiers.org/clinvar/68611 ^@ NM_006920.4(SCN1A):c.2921A>T (p.Asn974Ile) http://identifiers.org/clinvar/68612 ^@ NM_006920.4(SCN1A):c.2999A>T (p.Asn1000Ile) http://identifiers.org/clinvar/68613 ^@ NM_006920.4(SCN1A):c.3068T>C (p.Ile1023Thr) http://identifiers.org/clinvar/68614 ^@ NM_006920.4(SCN1A):c.307A>G (p.Ser103Gly) http://identifiers.org/clinvar/68615 ^@ NM_006920.4(SCN1A):c.335C>T (p.Thr112Ile) http://identifiers.org/clinvar/68616 ^@ NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) http://identifiers.org/clinvar/68617 ^@ NM_006920.4(SCN1A):c.3596C>A (p.Thr1199Lys) http://identifiers.org/clinvar/68618 ^@ NM_006920.4(SCN1A):c.3659G>C (p.Ser1220Thr) http://identifiers.org/clinvar/68619 ^@ NM_006920.4(SCN1A):c.3660T>A (p.Ser1220Arg) http://identifiers.org/clinvar/68620 ^@ NM_006920.4(SCN1A):c.371T>A (p.Ile124Asn) http://identifiers.org/clinvar/68621 ^@ NM_006920.4(SCN1A):c.3745A>C (p.Thr1249Pro) http://identifiers.org/clinvar/68622 ^@ NM_006920.4(SCN1A):c.3756C>G (p.Phe1252Leu) http://identifiers.org/clinvar/68623 ^@ NM_006920.4(SCN1A):c.3761T>C (p.Leu1254Pro) http://identifiers.org/clinvar/68624 ^@ NM_006920.4(SCN1A):c.3827T>C (p.Leu1276Pro) http://identifiers.org/clinvar/68625 ^@ NM_006920.4(SCN1A):c.3892C>T (p.Leu1298Phe) http://identifiers.org/clinvar/68626 ^@ NM_006920.4(SCN1A):c.3943G>C (p.Ala1315Pro) http://identifiers.org/clinvar/68627 ^@ NM_006920.4(SCN1A):c.4031T>C (p.Leu1344Pro) http://identifiers.org/clinvar/68628 ^@ NM_006920.4(SCN1A):c.4063G>A (p.Val1355Ile) http://identifiers.org/clinvar/68629 ^@ NM_006920.4(SCN1A):c.4068T>A (p.Asn1356Lys) http://identifiers.org/clinvar/68630 ^@ NM_006920.4(SCN1A):c.4265G>A (p.Gly1422Glu) http://identifiers.org/clinvar/68631 ^@ NM_006920.4(SCN1A):c.4267T>C (p.Trp1423Arg) http://identifiers.org/clinvar/68632 ^@ NM_006920.4(SCN1A):c.4315C>A (p.Gln1439Lys) http://identifiers.org/clinvar/68633 ^@ NM_006920.4(SCN1A):c.4316A>G (p.Gln1439Arg) http://identifiers.org/clinvar/68634 ^@ NM_006920.4(SCN1A):c.4348C>A (p.Leu1450Ile) http://identifiers.org/clinvar/68635 ^@ NM_006920.4(SCN1A):c.4508T>C (p.Leu1503Ser) http://identifiers.org/clinvar/68636 ^@ NM_006920.4(SCN1A):c.4690C>T (p.Arg1564Cys) http://identifiers.org/clinvar/68637 ^@ NM_006920.4(SCN1A):c.4724G>A (p.Gly1575Glu) http://identifiers.org/clinvar/68638 ^@ NM_006920.4(SCN1A):c.4801G>A (p.Val1601Ile) http://identifiers.org/clinvar/68639 ^@ NM_006920.4(SCN1A):c.4861C>T (p.Pro1621Ser) http://identifiers.org/clinvar/68640 ^@ NM_006920.4(SCN1A):c.4877T>A (p.Val1626Glu) http://identifiers.org/clinvar/68641 ^@ NM_006920.4(SCN1A):c.4909C>T (p.Arg1637Cys) http://identifiers.org/clinvar/68642 ^@ NM_006920.4(SCN1A):c.4936C>T (p.Arg1646Cys) http://identifiers.org/clinvar/68643 ^@ NM_006920.4(SCN1A):c.4940C>T (p.Thr1647Met) http://identifiers.org/clinvar/68644 ^@ NM_006920.4(SCN1A):c.4949T>C (p.Phe1650Ser) http://identifiers.org/clinvar/68645 ^@ NM_006920.4(SCN1A):c.4958T>A (p.Met1653Lys) http://identifiers.org/clinvar/68646 ^@ NM_006920.4(SCN1A):c.4987G>C (p.Gly1663Arg) http://identifiers.org/clinvar/68647 ^@ NM_006920.4(SCN1A):c.5021C>A (p.Ala1674Asp) http://identifiers.org/clinvar/68648 ^@ NM_006920.4(SCN1A):c.5021C>T (p.Ala1674Val) http://identifiers.org/clinvar/68649 ^@ NM_006920.4(SCN1A):c.5042T>C (p.Phe1681Ser) http://identifiers.org/clinvar/68650 ^@ NM_006920.4(SCN1A):c.5048A>G (p.Tyr1683Cys) http://identifiers.org/clinvar/68651 ^@ NM_006920.4(SCN1A):c.5105G>A (p.Ser1702Asn) http://identifiers.org/clinvar/68652 ^@ NM_006920.4(SCN1A):c.512T>A (p.Ile171Lys) http://identifiers.org/clinvar/68653 ^@ NM_006920.4(SCN1A):c.5192A>G (p.Asp1731Gly) http://identifiers.org/clinvar/68654 ^@ NM_006920.4(SCN1A):c.5213G>A (p.Gly1738Glu) http://identifiers.org/clinvar/68655 ^@ NM_006920.4(SCN1A):c.5233T>G (p.Cys1745Gly) http://identifiers.org/clinvar/68656 ^@ NM_006920.4(SCN1A):c.523G>A (p.Ala175Thr) http://identifiers.org/clinvar/68657 ^@ NM_006920.4(SCN1A):c.5309A>G (p.Tyr1770Cys) http://identifiers.org/clinvar/68658 ^@ NM_006920.4(SCN1A):c.530G>A (p.Gly177Glu) http://identifiers.org/clinvar/68659 ^@ NM_006920.4(SCN1A):c.5313C>G (p.Ile1771Met) http://identifiers.org/clinvar/68660 ^@ NM_006920.4(SCN1A):c.5350G>A (p.Glu1784Lys) http://identifiers.org/clinvar/68661 ^@ NM_006920.4(SCN1A):c.5389T>C (p.Phe1797Leu) http://identifiers.org/clinvar/68662 ^@ NM_006920.4(SCN1A):c.5401T>G (p.Trp1801Gly) http://identifiers.org/clinvar/68663 ^@ NM_006920.4(SCN1A):c.5459T>C (p.Phe1820Ser) http://identifiers.org/clinvar/68664 ^@ NM_006920.4(SCN1A):c.5522T>C (p.Met1841Thr) http://identifiers.org/clinvar/68665 ^@ NM_006920.4(SCN1A):c.5536G>T (p.Val1846Leu) http://identifiers.org/clinvar/68666 ^@ NM_006920.4(SCN1A):c.5563G>T (p.Asp1855Tyr) http://identifiers.org/clinvar/68667 ^@ NM_006920.4(SCN1A):c.5610G>C (p.Glu1870Asp) http://identifiers.org/clinvar/68668 ^@ NM_006920.4(SCN1A):c.568T>C (p.Trp190Arg) http://identifiers.org/clinvar/68669 ^@ NM_006920.4(SCN1A):c.5693C>T (p.Thr1898Ile) http://identifiers.org/clinvar/68670 ^@ NM_006920.4(SCN1A):c.571A>T (p.Asn191Tyr) http://identifiers.org/clinvar/68671 ^@ NM_006920.4(SCN1A):c.5837A>G (p.Glu1946Gly) http://identifiers.org/clinvar/68672 ^@ NM_006920.4(SCN1A):c.755T>A (p.Ile252Asn) http://identifiers.org/clinvar/68673 ^@ NM_006920.4(SCN1A):c.777C>A (p.Ser259Arg) http://identifiers.org/clinvar/68674 ^@ NM_006920.4(SCN1A):c.793G>T (p.Gly265Trp) http://identifiers.org/clinvar/68675 ^@ NM_006920.4(SCN1A):c.890C>T (p.Thr297Ile) http://identifiers.org/clinvar/68676 ^@ NM_000448.2(RAG1):c.1187G>T (p.Arg396Leu) http://identifiers.org/clinvar/68677 ^@ NM_000448.2(RAG1):c.1201T>C (p.Ser401Pro) http://identifiers.org/clinvar/68678 ^@ NM_000448.2(RAG1):c.1229G>A (p.Arg410Gln) http://identifiers.org/clinvar/68679 ^@ NM_000448.2(RAG1):c.1297G>A (p.Val433Met) http://identifiers.org/clinvar/68680 ^@ NM_000448.2(RAG1):c.1303A>G (p.Met435Val) http://identifiers.org/clinvar/68681 ^@ NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) http://identifiers.org/clinvar/68682 ^@ NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) http://identifiers.org/clinvar/68683 ^@ NM_000448.2(RAG1):c.1420C>T (p.Arg474Cys) http://identifiers.org/clinvar/68684 ^@ NM_000448.2(RAG1):c.1421G>A (p.Arg474His) http://identifiers.org/clinvar/68685 ^@ NM_000448.2(RAG1):c.1677G>T (p.Arg559Ser) http://identifiers.org/clinvar/68686 ^@ NM_000448.2(RAG1):c.1870C>T (p.Arg624Cys) http://identifiers.org/clinvar/68687 ^@ NM_000448.2(RAG1):c.1871G>A (p.Arg624His) http://identifiers.org/clinvar/68688 ^@ NM_000448.2(RAG1):c.2006A>G (p.Glu669Gly) http://identifiers.org/clinvar/68689 ^@ NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) http://identifiers.org/clinvar/68690 ^@ NM_000448.2(RAG1):c.2258A>T (p.His753Leu) http://identifiers.org/clinvar/68691 ^@ NM_000448.2(RAG1):c.2564A>T (p.Asn855Ile) http://identifiers.org/clinvar/68692 ^@ NM_000448.2(RAG1):c.2654T>G (p.Leu885Arg) http://identifiers.org/clinvar/68693 ^@ NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln) http://identifiers.org/clinvar/68694 ^@ NM_000448.2(RAG1):c.730A>G (p.Arg244Gly) http://identifiers.org/clinvar/68695 ^@ NM_000276.3(OCRL):c.1009C>T (p.Arg337Cys) http://identifiers.org/clinvar/68696 ^@ NM_000276.3(OCRL):c.1060A>C (p.Asn354His) http://identifiers.org/clinvar/68697 ^@ NM_000276.3(OCRL):c.1070G>A (p.Gly357Glu) http://identifiers.org/clinvar/68698 ^@ NM_000276.3(OCRL):c.1082G>T (p.Arg361Ile) http://identifiers.org/clinvar/68699 ^@ NM_000276.3(OCRL):c.1115T>G (p.Val372Gly) http://identifiers.org/clinvar/68700 ^@ NM_000276.3(OCRL):c.1117A>T (p.Asn373Tyr) http://identifiers.org/clinvar/68701 ^@ NM_000276.3(OCRL):c.1121C>T (p.Ser374Phe) http://identifiers.org/clinvar/68702 ^@ NM_000276.3(OCRL):c.1123C>T (p.His375Tyr) http://identifiers.org/clinvar/68703 ^@ NM_000276.3(OCRL):c.1241A>G (p.His414Arg) http://identifiers.org/clinvar/68704 ^@ NM_000276.3(OCRL):c.1262G>A (p.Gly421Glu) http://identifiers.org/clinvar/68705 ^@ NM_000276.3(OCRL):c.1270A>G (p.Asn424Asp) http://identifiers.org/clinvar/68706 ^@ NM_000276.3(OCRL):c.1351G>A (p.Asp451Asn) http://identifiers.org/clinvar/68707 ^@ NM_000276.3(OCRL):c.1352A>G (p.Asp451Gly) http://identifiers.org/clinvar/68708 ^@ NM_000276.3(OCRL):c.1369C>G (p.Arg457Gly) http://identifiers.org/clinvar/68709 ^@ NM_000276.3(OCRL):c.1388T>C (p.Phe463Ser) http://identifiers.org/clinvar/68710 ^@ NM_000276.3(OCRL):c.1402G>A (p.Glu468Lys) http://identifiers.org/clinvar/68711 ^@ NM_000276.3(OCRL):c.1403A>G (p.Glu468Gly) http://identifiers.org/clinvar/68712 ^@ NM_000276.3(OCRL):c.1477C>T (p.Arg493Trp) http://identifiers.org/clinvar/68713 ^@ NM_000276.3(OCRL):c.1493G>A (p.Cys498Tyr) http://identifiers.org/clinvar/68714 ^@ NM_000276.3(OCRL):c.1495G>C (p.Asp499His) http://identifiers.org/clinvar/68715 ^@ NM_000276.3(OCRL):c.1507T>C (p.Trp503Arg) http://identifiers.org/clinvar/68716 ^@ NM_000276.3(OCRL):c.1523T>A (p.Val508Asp) http://identifiers.org/clinvar/68717 ^@ NM_000276.3(OCRL):c.1538A>G (p.Tyr513Cys) http://identifiers.org/clinvar/68718 ^@ NM_000276.3(OCRL):c.1566C>G (p.Ser522Arg) http://identifiers.org/clinvar/68719 ^@ NM_000276.3(OCRL):c.1571A>G (p.His524Arg) http://identifiers.org/clinvar/68720 ^@ NM_000276.3(OCRL):c.1577C>T (p.Pro526Leu) http://identifiers.org/clinvar/68721 ^@ NM_000276.3(OCRL):c.1773C>A (p.Asn591Lys) http://identifiers.org/clinvar/68722 ^@ NM_000276.3(OCRL):c.2672T>G (p.Leu891Arg) http://identifiers.org/clinvar/68723 ^@ NM_000276.3(OCRL):c.725T>C (p.Phe242Ser) http://identifiers.org/clinvar/68724 ^@ NM_000276.3(OCRL):c.821T>C (p.Ile274Thr) http://identifiers.org/clinvar/68725 ^@ NM_000276.3(OCRL):c.830A>G (p.Gln277Arg) http://identifiers.org/clinvar/68726 ^@ NM_000207.2(INS):c.104T>C (p.Leu35Pro) http://identifiers.org/clinvar/68727 ^@ NM_000207.2(INS):c.17G>A (p.Arg6His) http://identifiers.org/clinvar/68728 ^@ NM_000207.2(INS):c.202C>A (p.Leu68Met) http://identifiers.org/clinvar/68729 ^@ NM_000207.2(INS):c.250G>A (p.Gly84Arg) http://identifiers.org/clinvar/68730 ^@ NM_000207.2(INS):c.287G>C (p.Cys96Ser) http://identifiers.org/clinvar/68731 ^@ NM_000207.2(INS):c.302C>G (p.Ser101Cys) http://identifiers.org/clinvar/68732 ^@ NM_000207.2(INS):c.308A>G (p.Tyr103Cys) http://identifiers.org/clinvar/68733 ^@ NM_000207.2(INS):c.85C>G (p.His29Asp) http://identifiers.org/clinvar/68734 ^@ NM_000391.3(TPP1):c.1027G>A (p.Glu343Lys) http://identifiers.org/clinvar/68735 ^@ NM_000391.3(TPP1):c.1057A>C (p.Thr353Pro) http://identifiers.org/clinvar/68736 ^@ NM_000391.3(TPP1):c.1154T>A (p.Val385Asp) http://identifiers.org/clinvar/68737 ^@ NM_000391.3(TPP1):c.1166G>A (p.Gly389Glu) http://identifiers.org/clinvar/68738 ^@ NM_000391.3(TPP1):c.1266G>C (p.Gln422His) http://identifiers.org/clinvar/68739 ^@ NM_000391.3(TPP1):c.1361C>A (p.Ala454Glu) http://identifiers.org/clinvar/68740 ^@ NM_000391.3(TPP1):c.1417G>A (p.Gly473Arg) http://identifiers.org/clinvar/68741 ^@ NM_000391.3(TPP1):c.1424C>T (p.Ser475Leu) http://identifiers.org/clinvar/68742 ^@ NM_000391.3(TPP1):c.1444G>C (p.Gly482Arg) http://identifiers.org/clinvar/68743 ^@ NM_000391.3(TPP1):c.1630C>T (p.Pro544Ser) http://identifiers.org/clinvar/68744 ^@ NM_000391.3(TPP1):c.229G>A (p.Gly77Arg) http://identifiers.org/clinvar/68745 ^@ NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) http://identifiers.org/clinvar/68746 ^@ NM_000391.3(TPP1):c.380G>A (p.Arg127Gln) http://identifiers.org/clinvar/68747 ^@ NM_000391.3(TPP1):c.605C>T (p.Pro202Leu) http://identifiers.org/clinvar/68748 ^@ NM_000391.3(TPP1):c.617G>A (p.Arg206His) http://identifiers.org/clinvar/68749 ^@ NM_000391.3(TPP1):c.829G>A (p.Val277Met) http://identifiers.org/clinvar/68750 ^@ NM_000391.3(TPP1):c.860T>A (p.Ile287Asn) http://identifiers.org/clinvar/68751 ^@ NM_144966.5(FREM1):c.6271G>A (p.Val2091Ile) http://identifiers.org/clinvar/68752 ^@ NM_000082.3(ERCC8):c.1083G>T (p.Trp361Cys) http://identifiers.org/clinvar/68753 ^@ NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) http://identifiers.org/clinvar/68754 ^@ NM_000082.3(ERCC8):c.582G>C (p.Trp194Cys) http://identifiers.org/clinvar/68755 ^@ NM_000082.3(ERCC8):c.605T>C (p.Leu202Ser) http://identifiers.org/clinvar/68756 ^@ NM_000082.3(ERCC8):c.797A>G (p.Asp266Gly) http://identifiers.org/clinvar/68757 ^@ NM_001004334.3(GPR179):c.1364G>A (p.Gly455Asp) http://identifiers.org/clinvar/68758 ^@ NM_001004334.3(GPR179):c.376G>C (p.Asp126His) http://identifiers.org/clinvar/68759 ^@ NM_003070.4(SMARCA2):c.2264A>G (p.Lys755Arg) http://identifiers.org/clinvar/68760 ^@ NM_003070.4(SMARCA2):c.2267C>T (p.Thr756Ile) http://identifiers.org/clinvar/68761 ^@ NM_003070.4(SMARCA2):c.2551G>C (p.Asp851His) http://identifiers.org/clinvar/68762 ^@ NM_003070.4(SMARCA2):c.2554G>A (p.Glu852Lys) http://identifiers.org/clinvar/68763 ^@ NM_003070.4(SMARCA2):c.2556A>C (p.Glu852Asp) http://identifiers.org/clinvar/68764 ^@ NM_003070.4(SMARCA2):c.2561A>G (p.His854Arg) http://identifiers.org/clinvar/68765 ^@ NM_003070.4(SMARCA2):c.2563C>G (p.Arg855Gly) http://identifiers.org/clinvar/68766 ^@ NM_003070.4(SMARCA2):c.2641G>C (p.Gly881Arg) http://identifiers.org/clinvar/68767 ^@ NM_003070.4(SMARCA2):c.2837T>C (p.Leu946Ser) http://identifiers.org/clinvar/68768 ^@ NM_003070.4(SMARCA2):c.2838A>T (p.Leu946Phe) http://identifiers.org/clinvar/68769 ^@ NM_003070.4(SMARCA2):c.3313C>T (p.Arg1105Cys) http://identifiers.org/clinvar/68770 ^@ NM_003070.4(SMARCA2):c.3314G>C (p.Arg1105Pro) http://identifiers.org/clinvar/68771 ^@ NM_003070.4(SMARCA2):c.3404T>C (p.Leu1135Pro) http://identifiers.org/clinvar/68772 ^@ NM_003070.4(SMARCA2):c.3436A>C (p.Ser1146Arg) http://identifiers.org/clinvar/68773 ^@ NM_003070.4(SMARCA2):c.3562G>C (p.Ala1188Pro) http://identifiers.org/clinvar/68774 ^@ NM_003070.4(SMARCA2):c.3614A>G (p.Asp1205Gly) http://identifiers.org/clinvar/68775 ^@ NM_024110.4(CARD14):c.112C>T (p.Arg38Cys) http://identifiers.org/clinvar/68776 ^@ NM_024110.4(CARD14):c.1778T>A (p.Ile593Asn) http://identifiers.org/clinvar/68777 ^@ NM_024110.4(CARD14):c.185G>A (p.Arg62Gln) http://identifiers.org/clinvar/68778 ^@ NM_024110.4(CARD14):c.2044C>T (p.Arg682Trp) http://identifiers.org/clinvar/68779 ^@ NM_024110.4(CARD14):c.2140G>A (p.Gly714Ser) http://identifiers.org/clinvar/68780 ^@ NM_024110.4(CARD14):c.2919C>G (p.Asp973Glu) http://identifiers.org/clinvar/68781 ^@ NM_024110.4(CARD14):c.449T>G (p.Leu150Arg) http://identifiers.org/clinvar/68782 ^@ NM_024110.4(CARD14):c.511C>A (p.His171Asn) http://identifiers.org/clinvar/68783 ^@ NM_024110.4(CARD14):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/68784 ^@ NM_024110.4(CARD14):c.571G>T (p.Val191Leu) http://identifiers.org/clinvar/68785 ^@ NM_024110.4(CARD14):c.599G>A (p.Ser200Asn) http://identifiers.org/clinvar/68786 ^@ NM_024110.4(CARD14):c.854A>G (p.Asp285Gly) http://identifiers.org/clinvar/68787 ^@ NM_001614.3(ACTG1):c.364A>G (p.Ile122Val) http://identifiers.org/clinvar/68788 ^@ NM_005359.5(SMAD4):c.38A>G (p.Asn13Ser) http://identifiers.org/clinvar/68789 ^@ NM_006907.3(PYCR1):c.616G>A (p.Gly206Arg) http://identifiers.org/clinvar/68790 ^@ NM_015166.3(MLC1):c.240G>A (p.Met80Ile) http://identifiers.org/clinvar/68791 ^@ NM_015166.3(MLC1):c.250C>T (p.Arg84Cys) http://identifiers.org/clinvar/68792 ^@ NM_015166.3(MLC1):c.353C>G (p.Thr118Arg) http://identifiers.org/clinvar/68793 ^@ NM_015166.3(MLC1):c.373T>C (p.Cys125Arg) http://identifiers.org/clinvar/68794 ^@ NM_015166.3(MLC1):c.634G>A (p.Gly212Arg) http://identifiers.org/clinvar/68795 ^@ NM_015166.3(MLC1):c.733G>C (p.Ala245Pro) http://identifiers.org/clinvar/68796 ^@ NM_015166.3(MLC1):c.736A>C (p.Ser246Arg) http://identifiers.org/clinvar/68797 ^@ NM_015166.3(MLC1):c.959C>A (p.Thr320Lys) http://identifiers.org/clinvar/68798 ^@ NM_139025.4(ADAMTS13):c.1039T>A (p.Cys347Ser) http://identifiers.org/clinvar/68799 ^@ NM_139025.4(ADAMTS13):c.1045C>T (p.Arg349Cys) http://identifiers.org/clinvar/68800 ^@ NM_139025.4(ADAMTS13):c.1058C>T (p.Pro353Leu) http://identifiers.org/clinvar/68801 ^@ NM_139025.4(ADAMTS13):c.1170G>C (p.Trp390Cys) http://identifiers.org/clinvar/68802 ^@ NM_139025.4(ADAMTS13):c.1520G>A (p.Arg507Gln) http://identifiers.org/clinvar/68804 ^@ NM_139025.4(ADAMTS13):c.1574G>A (p.Gly525Asp) http://identifiers.org/clinvar/68805 ^@ NM_139025.4(ADAMTS13):c.1787C>T (p.Ala596Val) http://identifiers.org/clinvar/68806 ^@ NM_139025.4(ADAMTS13):c.1816G>C (p.Ala606Pro) http://identifiers.org/clinvar/68807 ^@ NM_139025.4(ADAMTS13):c.1973A>G (p.Tyr658Cys) http://identifiers.org/clinvar/68808 ^@ NM_139025.4(ADAMTS13):c.2012C>T (p.Pro671Leu) http://identifiers.org/clinvar/68809 ^@ NM_139025.4(ADAMTS13):c.2017A>T (p.Ile673Phe) http://identifiers.org/clinvar/68810 ^@ NM_139025.4(ADAMTS13):c.2272T>C (p.Cys758Arg) http://identifiers.org/clinvar/68811 ^@ NM_139025.4(ADAMTS13):c.237C>G (p.Ile79Met) http://identifiers.org/clinvar/68812 ^@ NM_139025.4(ADAMTS13):c.262G>A (p.Val88Met) http://identifiers.org/clinvar/68813 ^@ NM_139025.4(ADAMTS13):c.2723G>A (p.Cys908Tyr) http://identifiers.org/clinvar/68814 ^@ NM_139025.4(ADAMTS13):c.2723G>C (p.Cys908Ser) http://identifiers.org/clinvar/68815 ^@ NM_139025.4(ADAMTS13):c.3178C>T (p.Arg1060Trp) http://identifiers.org/clinvar/68816 ^@ NM_139025.4(ADAMTS13):c.3367C>T (p.Arg1123Cys) http://identifiers.org/clinvar/68817 ^@ NM_139025.4(ADAMTS13):c.356C>T (p.Ser119Phe) http://identifiers.org/clinvar/68818 ^@ NM_139025.4(ADAMTS13):c.3655C>T (p.Arg1219Trp) http://identifiers.org/clinvar/68819 ^@ NM_139025.4(ADAMTS13):c.3716G>T (p.Gly1239Val) http://identifiers.org/clinvar/68820 ^@ NM_139025.4(ADAMTS13):c.3941C>T (p.Ser1314Leu) http://identifiers.org/clinvar/68821 ^@ NM_139025.4(ADAMTS13):c.4006C>T (p.Arg1336Trp) http://identifiers.org/clinvar/68822 ^@ NM_139025.4(ADAMTS13):c.533T>C (p.Ile178Thr) http://identifiers.org/clinvar/68823 ^@ NM_139025.4(ADAMTS13):c.577C>T (p.Arg193Trp) http://identifiers.org/clinvar/68824 ^@ NM_139025.4(ADAMTS13):c.607T>C (p.Ser203Pro) http://identifiers.org/clinvar/68825 ^@ NM_139025.4(ADAMTS13):c.695T>A (p.Leu232Gln) http://identifiers.org/clinvar/68826 ^@ NM_139025.4(ADAMTS13):c.702C>A (p.His234Gln) http://identifiers.org/clinvar/68827 ^@ NM_139025.4(ADAMTS13):c.703G>C (p.Asp235His) http://identifiers.org/clinvar/68828 ^@ NM_139025.4(ADAMTS13):c.788C>G (p.Ser263Cys) http://identifiers.org/clinvar/68829 ^@ NM_139025.4(ADAMTS13):c.911A>G (p.Tyr304Cys) http://identifiers.org/clinvar/68830 ^@ NM_139025.4(ADAMTS13):c.932G>A (p.Cys311Tyr) http://identifiers.org/clinvar/68831 ^@ NM_006080.2(SEMA3A):c.1198A>G (p.Ile400Val) http://identifiers.org/clinvar/68832 ^@ NM_006080.2(SEMA3A):c.196C>T (p.Arg66Trp) http://identifiers.org/clinvar/68833 ^@ NM_006080.2(SEMA3A):c.2062A>G (p.Thr688Ala) http://identifiers.org/clinvar/68834 ^@ NM_006080.2(SEMA3A):c.2189G>A (p.Arg730Gln) http://identifiers.org/clinvar/68835 ^@ NM_006080.2(SEMA3A):c.2198G>A (p.Arg733His) http://identifiers.org/clinvar/68836 ^@ NM_006080.2(SEMA3A):c.458A>G (p.Asn153Ser) http://identifiers.org/clinvar/68838 ^@ NM_018117.11(WDR11):c.1183C>T (p.Arg395Trp) http://identifiers.org/clinvar/68839 ^@ NM_018117.11(WDR11):c.1343G>A (p.Arg448Gln) http://identifiers.org/clinvar/68840 ^@ NM_018117.11(WDR11):c.2070T>A (p.His690Gln) http://identifiers.org/clinvar/68841 ^@ NM_018117.11(WDR11):c.2932A>C (p.Lys978Gln) http://identifiers.org/clinvar/68842 ^@ NM_018117.11(WDR11):c.3450T>G (p.Phe1150Leu) http://identifiers.org/clinvar/68843 ^@ NM_025216.2(WNT10A):c.283G>A (p.Glu95Lys) http://identifiers.org/clinvar/68844 ^@ NM_030787.3(CFHR5):c.1135G>C (p.Val379Leu) http://identifiers.org/clinvar/68845 ^@ NM_030787.3(CFHR5):c.1308G>T (p.Trp436Cys) http://identifiers.org/clinvar/68846 ^@ NM_030787.3(CFHR5):c.829T>A (p.Tyr277Asn) http://identifiers.org/clinvar/68847 ^@ NM_173630.3(RTTN):c.2796A>T (p.Leu932Phe) http://identifiers.org/clinvar/68848 ^@ NM_006920.4(SCN1A):c.5143T>C (p.Trp1715Arg) http://identifiers.org/clinvar/68849 ^@ NM_000249.3(MLH1):c.307-19A>G http://identifiers.org/clinvar/68850 ^@ NM_000249.3(MLH1):c.380+16C>G http://identifiers.org/clinvar/68851 ^@ NM_000249.3(MLH1):c.545+19G>T http://identifiers.org/clinvar/68878 ^@ NM_001232.3(CASQ2):c.94G>A (p.Asp32Asn) http://identifiers.org/clinvar/69044 ^@ NM_005562.2(LAMC2):c.2590C>T (p.Gln864Ter) http://identifiers.org/clinvar/69079 ^@ NM_000069.2(CACNA1S):c.3189C>T (p.Phe1063=) http://identifiers.org/clinvar/69168 ^@ NM_004895.4(NLRP3):c.306G>A (p.Ser102=) http://identifiers.org/clinvar/69406 ^@ NM_006920.4(SCN1A):c.4514C>T (p.Ser1505Leu) http://identifiers.org/clinvar/69440 ^@ NM_133379.4(TTN):c.15606C>T (p.Phe5202=) http://identifiers.org/clinvar/69635 ^@ NM_003494.3(DYSF):c.5371C>T (p.Pro1791Ser) http://identifiers.org/clinvar/69689 ^@ NM_003042.3(SLC6A1):c.313G>A (p.Gly105Ser) http://identifiers.org/clinvar/69718 ^@ NM_053025.3(MYLK):c.750C>T (p.Ile250=) http://identifiers.org/clinvar/69850 ^@ NM_001349253.1(SCN11A):c.673C>T (p.Arg225Cys) http://identifiers.org/clinvar/69961 ^@ NM_033632.3(FBXW7):c.1513C>T (p.Arg505Cys) http://identifiers.org/clinvar/70140 ^@ NM_002715.2(PPP2CA):c.640C>T (p.Arg214Ter) http://identifiers.org/clinvar/70460 ^@ NM_002098.5(GUCA1B):c.386G>A (p.Arg129Gln) http://identifiers.org/clinvar/70495 ^@ NM_183227.2(RAB23):c.239G>A (p.Arg80Gln) http://identifiers.org/clinvar/70633 ^@ NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) http://identifiers.org/clinvar/71118 ^@ NM_000314.6(PTEN):c.955_958delACTT (p.Thr319Terfs) http://identifiers.org/clinvar/71808 ^@ NM_000347.5(SPTB):c.1342G>A (p.Asp448Asn) http://identifiers.org/clinvar/72340 ^@ NM_000546.5(TP53):c.1051A>G (p.Lys351Glu) http://identifiers.org/clinvar/72377 ^@ NM_004949.4(DSC2):c.607C>T (p.Arg203Cys) http://identifiers.org/clinvar/72824 ^@ NM_000744.6(CHRNA4):c.963C>T (p.Ile321=) http://identifiers.org/clinvar/72912 ^@ NM_002430.2(MN1):c.3883C>T (p.Arg1295Ter) http://identifiers.org/clinvar/72928 ^@ NM_004737.5(LARGE1):c.1792G>A (p.Glu598Lys) http://identifiers.org/clinvar/73058 ^@ NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) http://identifiers.org/clinvar/73166 ^@ NM_015100.3(POGZ):c.1426C>T (p.Arg476Trp) http://identifiers.org/clinvar/73491 ^@ NM_003465.2(CHIT1):c.1073G>A (p.Trp358Ter) http://identifiers.org/clinvar/73561 ^@ NM_206933.2(USH2A):c.4646G>A (p.Arg1549Gln) http://identifiers.org/clinvar/73624 ^@ NM_001035.2(RYR2):c.5836G>A (p.Glu1946Lys) http://identifiers.org/clinvar/74053 ^@ NM_012275.2(IL36RN):c.333C>T (p.Phe111=) http://identifiers.org/clinvar/74130 ^@ NM_000547.5(TPO):c.2488G>A (p.Glu830Lys) http://identifiers.org/clinvar/74142 ^@ NM_004543.4(NEB):c.4834C>T (p.Arg1612Cys) http://identifiers.org/clinvar/74190 ^@ NM_001165963.1(SCN1A):c.2769C>T (p.Ile923=) http://identifiers.org/clinvar/74248 ^@ NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn) http://identifiers.org/clinvar/74285 ^@ NM_001267550.2(TTN):c.19389C>T (p.Phe6463=) http://identifiers.org/clinvar/74312 ^@ NM_001256850.1(TTN):c.7711G>A (p.Glu2571Lys) http://identifiers.org/clinvar/74412 ^@ NM_000384.2(APOB):c.12252T>C (p.Tyr4084=) http://identifiers.org/clinvar/74426 ^@ NM_005235.2(ERBB4):c.1630C>T (p.Arg544Trp) http://identifiers.org/clinvar/74427 ^@ NM_005235.2(ERBB4):c.949G>A (p.Glu317Lys) http://identifiers.org/clinvar/74445 ^@ NM_005444.2(CNOT9):c.392C>T (p.Pro131Leu) http://identifiers.org/clinvar/74757 ^@ NM_001298.2(CNGA3):c.110C>T (p.Ser37Leu) http://identifiers.org/clinvar/74827 ^@ NM_001199799.1(ILDR1):c.972C>T (p.Val324=) http://identifiers.org/clinvar/75060 ^@ NM_198056.2(SCN5A):c.1272C>T (p.Ile424=) http://identifiers.org/clinvar/75132 ^@ NM_000094.3(COL7A1):c.4612C>T (p.Arg1538Cys) http://identifiers.org/clinvar/75231 ^@ NM_006749.4(SLC20A2):c.1828_1831delTCCC (p.Ser610Alafs) http://identifiers.org/clinvar/75233 ^@ NM_006749.4(SLC20A2):c.583_584delGT (p.Val195Leufs) http://identifiers.org/clinvar/75237 ^@ NM_002608.3(PDGFB):c.433C>T (p.Gln145Ter) http://identifiers.org/clinvar/75239 ^@ NM_002608.3(PDGFB):c.356T>C (p.Leu119Pro) http://identifiers.org/clinvar/75241 ^@ NM_002608.3(PDGFB):c.726G>C (p.Ter242Tyr) http://identifiers.org/clinvar/75243 ^@ NM_002608.3(PDGFB):c.445C>T (p.Arg149Ter) http://identifiers.org/clinvar/75245 ^@ NM_002608.3(PDGFB):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/75658 ^@ NM_001369.2(DNAH5):c.11322C>T (p.Ser3774=) http://identifiers.org/clinvar/76197 ^@ NM_033071.3(SYNE1):c.24439G>A (p.Asp8147Asn) http://identifiers.org/clinvar/76198 ^@ NM_033071.3(SYNE1):c.23783G>A (p.Arg7928Gln) http://identifiers.org/clinvar/76320 ^@ NM_004197.1(STK19):c.265G>A (p.Asp89Asn) http://identifiers.org/clinvar/76610 ^@ NM_000492.3(CFTR):c.1265C>T (p.Ser422Phe) http://identifiers.org/clinvar/76687 ^@ NM_004333.4(BRAF):c.1790T>A (p.Leu597Gln) http://identifiers.org/clinvar/76762 ^@ NM_014141.5(CNTNAP2):c.2604G>A (p.Glu868=) http://identifiers.org/clinvar/76768 ^@ NM_004456.4(EZH2):c.1937A>T (p.Tyr646Phe) http://identifiers.org/clinvar/76769 ^@ NM_004456.4(EZH2):c.1936T>C (p.Tyr646His) http://identifiers.org/clinvar/76800 ^@ NM_016203.3(PRKAG2):c.587C>T (p.Ser196Phe) http://identifiers.org/clinvar/77079 ^@ NM_178857.5(RP1L1):c.4577C>T (p.Thr1526Met) http://identifiers.org/clinvar/77390 ^@ NM_020361.4(CPA6):c.491C>T (p.Ser164Phe) http://identifiers.org/clinvar/77637 ^@ NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) http://identifiers.org/clinvar/78201 ^@ NM_005188.3(CBL):c.445C>T (p.Arg149Ter) http://identifiers.org/clinvar/78214 ^@ NM_005422.2(TECTA):c.6103G>A (p.Glu2035Lys) http://identifiers.org/clinvar/78246 ^@ NM_022370.3(ROBO3):c.1189C>T (p.Pro397Ser) http://identifiers.org/clinvar/78960 ^@ NM_000719.6(CACNA1C):c.3387G>A (p.Thr1129=) http://identifiers.org/clinvar/78974 ^@ NM_004572.3(PKP2):c.1489C>T (p.Arg497Ter) http://identifiers.org/clinvar/79154 ^@ NM_004984.2(KIF5A):c.2272G>A (p.Glu758Lys) http://identifiers.org/clinvar/79258 ^@ NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) http://identifiers.org/clinvar/79393 ^@ NM_000321.2(RB1):c.2318C>T (p.Ser773Phe) http://identifiers.org/clinvar/79594 ^@ NM_015346.3(ZFYVE26):c.3070C>T (p.Pro1024Ser) http://identifiers.org/clinvar/79628 ^@ NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) http://identifiers.org/clinvar/80161 ^@ NM_022162.2(NOD2):c.1366C>T (p.Leu456=) http://identifiers.org/clinvar/80176 ^@ NM_000078.2(CETP):c.84C>T (p.Ile28=) http://identifiers.org/clinvar/80264 ^@ NM_178452.5(DNAAF1):c.1359G>A (p.Val453=) http://identifiers.org/clinvar/80367 ^@ NM_144997.5(FLCN):c.1332C>T (p.Ala444=) http://identifiers.org/clinvar/80708 ^@ NM_000546.5(TP53):c.1093C>T (p.His365Tyr) http://identifiers.org/clinvar/80762 ^@ NM_000529.2(MC2R):c.318C>T (p.Ile106=) http://identifiers.org/clinvar/81136 ^@ NM_000540.2(RYR1):c.12335C>T (p.Ser4112Leu) http://identifiers.org/clinvar/81472 ^@ NM_030957.3(ADAMTS10):c.3193G>A (p.Gly1065Ser) http://identifiers.org/clinvar/81729 ^@ NM_002591.3(PCK1):c.1537C>T (p.His513Tyr) http://identifiers.org/clinvar/81938 ^@ NM_007194.3(CHEK2):c.1136C>T (p.Ser379Phe) http://identifiers.org/clinvar/81976 ^@ NM_001039141.2(TRIOBP):c.1740C>A (p.Ala580=) http://identifiers.org/clinvar/82052 ^@ NM_178151.2(DCX):c.305G>A (p.Arg102His) http://identifiers.org/clinvar/82252 ^@ NM_021120.3(DLG3):c.1425G>A (p.Ser475=) http://identifiers.org/clinvar/82288 ^@ NM_001127511.2(APC):c.165+20015G>T http://identifiers.org/clinvar/82289 ^@ NM_001127511.2(APC):c.165+20528G>C http://identifiers.org/clinvar/82290 ^@ NM_001127511.2(APC):c.165+20534G>C http://identifiers.org/clinvar/82291 ^@ NM_001127511.2(APC):c.165+20687A>G http://identifiers.org/clinvar/82292 ^@ NM_001127511.2(APC):c.165+20758G>T http://identifiers.org/clinvar/82293 ^@ NM_001127511.2(APC):c.165+20759T>G http://identifiers.org/clinvar/82294 ^@ NM_001127511.2(APC):c.165+20760T>C http://identifiers.org/clinvar/82295 ^@ NM_001127511.2(APC):c.165+20767T>G http://identifiers.org/clinvar/82296 ^@ NM_001127511.2(APC):c.165+20821G>T http://identifiers.org/clinvar/82297 ^@ NM_001127511.2(APC):c.165+21162T>C http://identifiers.org/clinvar/82298 ^@ NM_001127511.2(APC):c.165+21163C>T http://identifiers.org/clinvar/82299 ^@ NM_001127511.2(APC):c.165+21707A>G http://identifiers.org/clinvar/82300 ^@ NM_001127511.2(APC):c.165+21708C>A http://identifiers.org/clinvar/82301 ^@ NM_001127511.2(APC):c.165+21747G>T http://identifiers.org/clinvar/82302 ^@ NM_001127511.2(APC):c.165+21803C>A http://identifiers.org/clinvar/82303 ^@ NM_001127511.2(APC):c.165+21909G>A http://identifiers.org/clinvar/82304 ^@ NM_001127511.2(APC):c.165+22188A>T http://identifiers.org/clinvar/82305 ^@ NM_001127511.2(APC):c.165+22544A>G http://identifiers.org/clinvar/82306 ^@ NM_001127511.2(APC):c.165+22819T>C http://identifiers.org/clinvar/82307 ^@ NM_001127511.2(APC):c.165+23451A>G http://identifiers.org/clinvar/82308 ^@ NM_001127511.2(APC):c.165+23937T>G http://identifiers.org/clinvar/82309 ^@ NM_001127511.2(APC):c.165+24001T>C http://identifiers.org/clinvar/82310 ^@ NM_001127511.2(APC):c.165+25278G>T http://identifiers.org/clinvar/82311 ^@ NM_001127511.2(APC):c.165+26182A>C http://identifiers.org/clinvar/82312 ^@ NM_001127511.2(APC):c.165+26227C>A http://identifiers.org/clinvar/82313 ^@ NM_001127511.2(APC):c.165+26367A>G http://identifiers.org/clinvar/82314 ^@ NM_001127511.2(APC):c.165+26388T>C http://identifiers.org/clinvar/82315 ^@ NM_001127511.2(APC):c.165+26518G>A http://identifiers.org/clinvar/82316 ^@ NM_001127511.2(APC):c.165+26855C>A http://identifiers.org/clinvar/82317 ^@ NM_001127511.2(APC):c.165+26904T>G http://identifiers.org/clinvar/82318 ^@ NM_001127511.2(APC):c.165+26989G>C http://identifiers.org/clinvar/82319 ^@ NM_001127511.2(APC):c.165+27024T>G http://identifiers.org/clinvar/82320 ^@ NM_001127511.2(APC):c.165+27250T>C http://identifiers.org/clinvar/82321 ^@ NM_001127511.2(APC):c.165+27966C>A http://identifiers.org/clinvar/82322 ^@ NM_000038.5(APC):c.-2012G>A http://identifiers.org/clinvar/82323 ^@ NM_000038.5(APC):c.-1292A>C http://identifiers.org/clinvar/82324 ^@ NM_000038.5(APC):c.-1251A>G http://identifiers.org/clinvar/82325 ^@ NM_000038.5(APC):c.-360A>C http://identifiers.org/clinvar/82326 ^@ NM_000038.5(APC):c.-245T>G http://identifiers.org/clinvar/82327 ^@ NM_000038.5(APC):c.-240T>G http://identifiers.org/clinvar/82328 ^@ NM_000038.5(APC):c.-19+49A>G http://identifiers.org/clinvar/82329 ^@ NM_000038.5(APC):c.-19+53T>G http://identifiers.org/clinvar/82330 ^@ NM_000038.5(APC):c.-19+561T>G http://identifiers.org/clinvar/82331 ^@ NM_000038.5(APC):c.-19+695C>T http://identifiers.org/clinvar/82332 ^@ NM_000038.5(APC):c.-19+904G>T http://identifiers.org/clinvar/82333 ^@ NM_000038.5(APC):c.-19+913G>T http://identifiers.org/clinvar/82334 ^@ NM_000038.5(APC):c.-19+1265T>C http://identifiers.org/clinvar/82335 ^@ NM_000038.5(APC):c.-19+1838G>A http://identifiers.org/clinvar/82336 ^@ NM_000038.5(APC):c.-19+1872G>T http://identifiers.org/clinvar/82337 ^@ NM_000038.5(APC):c.-19+2145A>G http://identifiers.org/clinvar/82338 ^@ NM_000038.5(APC):c.-19+2566C>A http://identifiers.org/clinvar/82339 ^@ NM_000038.5(APC):c.-19+2871G>T http://identifiers.org/clinvar/82340 ^@ NM_000038.5(APC):c.-19+2880G>T http://identifiers.org/clinvar/82341 ^@ NM_000038.5(APC):c.-19+3869A>C http://identifiers.org/clinvar/82342 ^@ NM_000038.5(APC):c.-19+3969G>T http://identifiers.org/clinvar/82343 ^@ NM_000038.5(APC):c.-19+4670G>T http://identifiers.org/clinvar/82344 ^@ NM_000038.5(APC):c.-19+5495A>C http://identifiers.org/clinvar/82345 ^@ NM_000038.5(APC):c.-19+5496T>A http://identifiers.org/clinvar/82346 ^@ NM_000038.5(APC):c.-19+5503T>A http://identifiers.org/clinvar/82347 ^@ NM_000038.5(APC):c.-19+5505A>G http://identifiers.org/clinvar/82348 ^@ NM_000038.5(APC):c.-19+6805G>A http://identifiers.org/clinvar/82349 ^@ NM_000038.5(APC):c.-19+7207T>A http://identifiers.org/clinvar/82350 ^@ NM_000038.5(APC):c.-19+7711T>C http://identifiers.org/clinvar/82351 ^@ NM_000038.5(APC):c.-18-8204G>C http://identifiers.org/clinvar/82352 ^@ NM_000038.5(APC):c.-18-7763T>G http://identifiers.org/clinvar/82353 ^@ NM_000038.5(APC):c.-18-6158A>G http://identifiers.org/clinvar/82354 ^@ NM_000038.5(APC):c.-18-5649C>A http://identifiers.org/clinvar/82355 ^@ NM_000038.5(APC):c.-18-5328C>A http://identifiers.org/clinvar/82356 ^@ NM_000038.5(APC):c.-18-5320T>G http://identifiers.org/clinvar/82357 ^@ NM_000038.5(APC):c.-18-5277A>C http://identifiers.org/clinvar/82358 ^@ NM_000038.5(APC):c.-18-5107T>G http://identifiers.org/clinvar/82359 ^@ NM_000038.5(APC):c.-18-4629T>G http://identifiers.org/clinvar/82360 ^@ NM_000038.5(APC):c.-18-4623A>C http://identifiers.org/clinvar/82361 ^@ NM_000038.5(APC):c.-18-1457G>T http://identifiers.org/clinvar/82362 ^@ NM_000038.5(APC):c.-18-1160G>T http://identifiers.org/clinvar/82363 ^@ NM_000038.5(APC):c.-18-62T>A http://identifiers.org/clinvar/82364 ^@ NM_000038.5(APC):c.135+859A>G http://identifiers.org/clinvar/82365 ^@ NM_000038.5(APC):c.135+862A>G http://identifiers.org/clinvar/82366 ^@ NM_000038.5(APC):c.135+2275G>T http://identifiers.org/clinvar/82367 ^@ NM_000038.5(APC):c.135+3581G>C http://identifiers.org/clinvar/82368 ^@ NM_000038.5(APC):c.135+3582A>C http://identifiers.org/clinvar/82369 ^@ NM_000038.5(APC):c.135+3586A>C http://identifiers.org/clinvar/82370 ^@ NM_000038.5(APC):c.135+3678T>G http://identifiers.org/clinvar/82371 ^@ NM_000038.5(APC):c.135+3679G>C http://identifiers.org/clinvar/82372 ^@ NM_000038.5(APC):c.135+3685T>C http://identifiers.org/clinvar/82373 ^@ NM_000038.5(APC):c.135+3728A>C http://identifiers.org/clinvar/82374 ^@ NM_000038.5(APC):c.135+4609C>G http://identifiers.org/clinvar/82375 ^@ NM_000038.5(APC):c.135+4614G>C http://identifiers.org/clinvar/82376 ^@ NM_000038.5(APC):c.136-5500T>C http://identifiers.org/clinvar/82377 ^@ NM_000038.5(APC):c.136-5499C>T http://identifiers.org/clinvar/82378 ^@ NM_000038.5(APC):c.136-5245T>G http://identifiers.org/clinvar/82379 ^@ NM_000038.5(APC):c.136-5227A>C http://identifiers.org/clinvar/82380 ^@ NM_000038.5(APC):c.136-3506G>T http://identifiers.org/clinvar/82381 ^@ NM_000038.5(APC):c.136-3072A>G http://identifiers.org/clinvar/82382 ^@ NM_000038.5(APC):c.136-2965G>A http://identifiers.org/clinvar/82383 ^@ NM_000038.5(APC):c.136-2953C>T http://identifiers.org/clinvar/82384 ^@ NM_000038.5(APC):c.136-2352A>C http://identifiers.org/clinvar/82385 ^@ NM_000038.5(APC):c.136-2333T>C http://identifiers.org/clinvar/82386 ^@ NM_000038.5(APC):c.136-2311A>G http://identifiers.org/clinvar/82387 ^@ NM_000038.5(APC):c.136-2231A>T http://identifiers.org/clinvar/82388 ^@ NM_000038.5(APC):c.136-2078A>C http://identifiers.org/clinvar/82389 ^@ NM_000038.5(APC):c.136-1763C>T http://identifiers.org/clinvar/82390 ^@ NM_000038.5(APC):c.136-1527G>A http://identifiers.org/clinvar/82391 ^@ NM_000038.5(APC):c.136-625A>C http://identifiers.org/clinvar/82392 ^@ NM_000038.5(APC):c.136-383G>T http://identifiers.org/clinvar/82393 ^@ NM_000038.5(APC):c.136-358C>A http://identifiers.org/clinvar/82394 ^@ NM_000038.5(APC):c.136-287A>G http://identifiers.org/clinvar/82395 ^@ NM_000038.5(APC):c.136-284A>G http://identifiers.org/clinvar/82396 ^@ NM_000038.5(APC):c.136-277T>G http://identifiers.org/clinvar/82397 ^@ NM_000038.5(APC):c.136-219C>A http://identifiers.org/clinvar/82398 ^@ NM_000038.5(APC):c.136-217C>A http://identifiers.org/clinvar/82399 ^@ NM_000038.5(APC):c.220+38G>T http://identifiers.org/clinvar/82400 ^@ NM_000038.5(APC):c.220+229T>G http://identifiers.org/clinvar/82401 ^@ NM_000038.5(APC):c.221-344A>G http://identifiers.org/clinvar/82402 ^@ NM_000038.5(APC):c.422+655T>C http://identifiers.org/clinvar/82403 ^@ NM_000038.5(APC):c.422+919T>C http://identifiers.org/clinvar/82404 ^@ NM_000038.5(APC):c.422+974A>C http://identifiers.org/clinvar/82405 ^@ NM_000038.5(APC):c.422+975A>C http://identifiers.org/clinvar/82406 ^@ NM_000038.5(APC):c.422+1015G>T http://identifiers.org/clinvar/82407 ^@ NM_000038.5(APC):c.422+1016A>C http://identifiers.org/clinvar/82408 ^@ NM_000038.5(APC):c.422+1113T>A http://identifiers.org/clinvar/82409 ^@ NM_000038.5(APC):c.422+1477A>G http://identifiers.org/clinvar/82410 ^@ NM_000038.5(APC):c.422+1575T>G http://identifiers.org/clinvar/82411 ^@ NM_000038.5(APC):c.422+1672T>G http://identifiers.org/clinvar/82412 ^@ NM_000038.5(APC):c.422+1806A>C http://identifiers.org/clinvar/82413 ^@ NM_000038.5(APC):c.422+2131G>T http://identifiers.org/clinvar/82414 ^@ NM_000038.5(APC):c.422+3192G>T http://identifiers.org/clinvar/82415 ^@ NM_000038.5(APC):c.422+3687G>C http://identifiers.org/clinvar/82416 ^@ NM_000038.5(APC):c.422+3986T>G http://identifiers.org/clinvar/82417 ^@ NM_000038.5(APC):c.423-3313C>A http://identifiers.org/clinvar/82418 ^@ NM_000038.5(APC):c.423-3178T>C http://identifiers.org/clinvar/82419 ^@ NM_000038.5(APC):c.423-2719G>T http://identifiers.org/clinvar/82420 ^@ NM_000038.5(APC):c.423-2650G>T http://identifiers.org/clinvar/82421 ^@ NM_000038.5(APC):c.423-1323A>G http://identifiers.org/clinvar/82422 ^@ NM_000038.5(APC):c.423-912T>C http://identifiers.org/clinvar/82423 ^@ NM_000038.5(APC):c.423-909A>C http://identifiers.org/clinvar/82424 ^@ NM_000038.5(APC):c.423-690C>G http://identifiers.org/clinvar/82425 ^@ NM_000038.5(APC):c.423-677C>T http://identifiers.org/clinvar/82426 ^@ NM_000038.5(APC):c.531+679A>G http://identifiers.org/clinvar/82427 ^@ NM_000038.5(APC):c.531+896T>C http://identifiers.org/clinvar/82428 ^@ NM_000038.5(APC):c.531+1622T>A http://identifiers.org/clinvar/82429 ^@ NM_000038.5(APC):c.532-2322A>T http://identifiers.org/clinvar/82430 ^@ NM_000038.5(APC):c.532-2267A>T http://identifiers.org/clinvar/82431 ^@ NM_000038.5(APC):c.532-2262C>A http://identifiers.org/clinvar/82432 ^@ NM_000038.5(APC):c.532-1968T>G http://identifiers.org/clinvar/82433 ^@ NM_000038.5(APC):c.532-1963G>C http://identifiers.org/clinvar/82434 ^@ NM_000038.5(APC):c.645+122A>G http://identifiers.org/clinvar/82435 ^@ NM_000038.5(APC):c.645+154C>A http://identifiers.org/clinvar/82436 ^@ NM_000038.5(APC):c.645+876C>T http://identifiers.org/clinvar/82437 ^@ NM_000038.5(APC):c.645+1270T>C http://identifiers.org/clinvar/82438 ^@ NM_000038.5(APC):c.645+1462C>A http://identifiers.org/clinvar/82439 ^@ NM_000038.5(APC):c.645+1515G>T http://identifiers.org/clinvar/82440 ^@ NM_000038.5(APC):c.645+3021C>T http://identifiers.org/clinvar/82441 ^@ NM_000038.5(APC):c.645+3078C>A http://identifiers.org/clinvar/82442 ^@ NM_000038.5(APC):c.645+3205C>A http://identifiers.org/clinvar/82443 ^@ NM_000038.5(APC):c.645+3276T>C http://identifiers.org/clinvar/82444 ^@ NM_000038.5(APC):c.645+3446T>G http://identifiers.org/clinvar/82445 ^@ NM_000038.5(APC):c.645+3454T>G http://identifiers.org/clinvar/82446 ^@ NM_000038.5(APC):c.645+3455G>C http://identifiers.org/clinvar/82447 ^@ NM_000038.5(APC):c.645+3709C>G http://identifiers.org/clinvar/82448 ^@ NM_000038.5(APC):c.645+3714G>A http://identifiers.org/clinvar/82449 ^@ NM_000038.5(APC):c.645+3718T>C http://identifiers.org/clinvar/82450 ^@ NM_000038.5(APC):c.645+3976G>C http://identifiers.org/clinvar/82451 ^@ NM_000038.5(APC):c.645+3978A>C http://identifiers.org/clinvar/82452 ^@ NM_000038.5(APC):c.645+4262G>T http://identifiers.org/clinvar/82453 ^@ NM_000038.5(APC):c.645+4263A>T http://identifiers.org/clinvar/82454 ^@ NM_000038.5(APC):c.645+5003A>T http://identifiers.org/clinvar/82455 ^@ NM_000038.5(APC):c.645+5030A>G http://identifiers.org/clinvar/82456 ^@ NM_000038.5(APC):c.645+5134C>A http://identifiers.org/clinvar/82457 ^@ NM_000038.5(APC):c.645+5220G>T http://identifiers.org/clinvar/82458 ^@ NM_000038.5(APC):c.645+5236A>C http://identifiers.org/clinvar/82459 ^@ NM_000038.5(APC):c.645+5391T>G http://identifiers.org/clinvar/82460 ^@ NM_000038.5(APC):c.646-5277T>G http://identifiers.org/clinvar/82461 ^@ NM_000038.5(APC):c.646-4989T>C http://identifiers.org/clinvar/82462 ^@ NM_000038.5(APC):c.646-4968C>A http://identifiers.org/clinvar/82463 ^@ NM_000038.5(APC):c.646-4504G>T http://identifiers.org/clinvar/82464 ^@ NM_000038.5(APC):c.646-4308T>G http://identifiers.org/clinvar/82465 ^@ NM_000038.5(APC):c.646-4302A>C http://identifiers.org/clinvar/82466 ^@ NM_000038.5(APC):c.646-4019C>A http://identifiers.org/clinvar/82467 ^@ NM_000038.5(APC):c.646-3605C>T http://identifiers.org/clinvar/82468 ^@ NM_000038.5(APC):c.646-3277T>C http://identifiers.org/clinvar/82469 ^@ NM_000038.5(APC):c.646-3193C>A http://identifiers.org/clinvar/82470 ^@ NM_000038.5(APC):c.646-2890T>C http://identifiers.org/clinvar/82471 ^@ NM_000038.5(APC):c.646-2481T>C http://identifiers.org/clinvar/82472 ^@ NM_000038.5(APC):c.646-1836T>G http://identifiers.org/clinvar/82473 ^@ NM_000038.5(APC):c.646-1599T>G http://identifiers.org/clinvar/82474 ^@ NM_000038.5(APC):c.646-966C>G http://identifiers.org/clinvar/82475 ^@ NM_000038.5(APC):c.646-847T>C http://identifiers.org/clinvar/82476 ^@ NM_000038.5(APC):c.646-431A>C http://identifiers.org/clinvar/82477 ^@ NM_000038.5(APC):c.646-86G>T http://identifiers.org/clinvar/82478 ^@ NM_000038.5(APC):c.646-76G>T http://identifiers.org/clinvar/82479 ^@ NM_000038.5(APC):c.729+23T>G http://identifiers.org/clinvar/82480 ^@ NM_000038.5(APC):c.729+88T>C http://identifiers.org/clinvar/82481 ^@ NM_000038.5(APC):c.729+447A>G http://identifiers.org/clinvar/82482 ^@ NM_000038.5(APC):c.729+964A>C http://identifiers.org/clinvar/82483 ^@ NM_000038.5(APC):c.729+970A>T http://identifiers.org/clinvar/82484 ^@ NM_000038.5(APC):c.729+1527A>G http://identifiers.org/clinvar/82485 ^@ NM_000038.5(APC):c.729+1530T>A http://identifiers.org/clinvar/82486 ^@ NM_000038.5(APC):c.729+1618C>A http://identifiers.org/clinvar/82487 ^@ NM_000038.5(APC):c.729+1672T>C http://identifiers.org/clinvar/82488 ^@ NM_000038.5(APC):c.729+1829G>C http://identifiers.org/clinvar/82489 ^@ NM_000038.5(APC):c.729+2040T>C http://identifiers.org/clinvar/82490 ^@ NM_000038.5(APC):c.729+2184T>C http://identifiers.org/clinvar/82491 ^@ NM_000038.5(APC):c.729+2218T>C http://identifiers.org/clinvar/82492 ^@ NM_000038.5(APC):c.729+2258T>C http://identifiers.org/clinvar/82493 ^@ NM_000038.5(APC):c.729+2619T>G http://identifiers.org/clinvar/82494 ^@ NM_000038.5(APC):c.729+2781G>C http://identifiers.org/clinvar/82495 ^@ NM_000038.5(APC):c.729+2876T>C http://identifiers.org/clinvar/82496 ^@ NM_000038.5(APC):c.729+3619G>A http://identifiers.org/clinvar/82497 ^@ NM_000038.5(APC):c.730-4028A>G http://identifiers.org/clinvar/82498 ^@ NM_000038.5(APC):c.730-3290A>C http://identifiers.org/clinvar/82499 ^@ NM_000038.5(APC):c.730-3130C>A http://identifiers.org/clinvar/82500 ^@ NM_000038.5(APC):c.730-3103C>A http://identifiers.org/clinvar/82501 ^@ NM_000038.5(APC):c.730-2871A>G http://identifiers.org/clinvar/82502 ^@ NM_000038.5(APC):c.730-2731A>G http://identifiers.org/clinvar/82503 ^@ NM_000038.5(APC):c.730-2463T>G http://identifiers.org/clinvar/82504 ^@ NM_000038.5(APC):c.730-2460C>T http://identifiers.org/clinvar/82505 ^@ NM_000038.5(APC):c.730-2139C>T http://identifiers.org/clinvar/82506 ^@ NM_000038.5(APC):c.730-2071A>C http://identifiers.org/clinvar/82507 ^@ NM_000038.5(APC):c.730-1469C>A http://identifiers.org/clinvar/82508 ^@ NM_000038.5(APC):c.730-1052C>A http://identifiers.org/clinvar/82509 ^@ NM_000038.5(APC):c.730-170T>G http://identifiers.org/clinvar/82510 ^@ NM_000038.5(APC):c.730-168G>C http://identifiers.org/clinvar/82511 ^@ NM_000038.5(APC):c.730-167A>C http://identifiers.org/clinvar/82512 ^@ NM_000038.5(APC):c.834+562A>T http://identifiers.org/clinvar/82513 ^@ NM_000038.5(APC):c.834+588T>A http://identifiers.org/clinvar/82514 ^@ NM_000038.5(APC):c.834+1020G>T http://identifiers.org/clinvar/82515 ^@ NM_000038.5(APC):c.834+1462A>G http://identifiers.org/clinvar/82516 ^@ NM_000038.5(APC):c.834+2344A>G http://identifiers.org/clinvar/82517 ^@ NM_000038.5(APC):c.834+2538T>C http://identifiers.org/clinvar/82518 ^@ NM_000038.5(APC):c.834+2942A>G http://identifiers.org/clinvar/82519 ^@ NM_000038.5(APC):c.834+3019G>T http://identifiers.org/clinvar/82520 ^@ NM_000038.5(APC):c.834+3347A>C http://identifiers.org/clinvar/82521 ^@ NM_000038.5(APC):c.834+3349A>C http://identifiers.org/clinvar/82522 ^@ NM_000038.5(APC):c.834+3690G>T http://identifiers.org/clinvar/82523 ^@ NM_000038.5(APC):c.834+3861T>C http://identifiers.org/clinvar/82524 ^@ NM_000038.5(APC):c.834+4102G>T http://identifiers.org/clinvar/82525 ^@ NM_000038.5(APC):c.834+4966C>G http://identifiers.org/clinvar/82526 ^@ NM_000038.5(APC):c.834+5107C>A http://identifiers.org/clinvar/82527 ^@ NM_000038.5(APC):c.834+5290G>C http://identifiers.org/clinvar/82528 ^@ NM_000038.5(APC):c.834+5752G>A http://identifiers.org/clinvar/82529 ^@ NM_000038.5(APC):c.834+5755A>G http://identifiers.org/clinvar/82530 ^@ NM_000038.5(APC):c.834+5772T>A http://identifiers.org/clinvar/82531 ^@ NM_000038.5(APC):c.834+6131A>T http://identifiers.org/clinvar/82532 ^@ NM_000038.5(APC):c.834+6208C>G http://identifiers.org/clinvar/82533 ^@ NM_000038.5(APC):c.834+6209T>G http://identifiers.org/clinvar/82534 ^@ NM_000038.5(APC):c.834+6211G>T http://identifiers.org/clinvar/82535 ^@ NM_000038.5(APC):c.834+6270G>A http://identifiers.org/clinvar/82536 ^@ NM_000038.5(APC):c.834+6275A>C http://identifiers.org/clinvar/82537 ^@ NM_000038.5(APC):c.834+6505C>G http://identifiers.org/clinvar/82538 ^@ NM_000038.5(APC):c.834+6622A>T http://identifiers.org/clinvar/82539 ^@ NM_000038.5(APC):c.834+6854C>A http://identifiers.org/clinvar/82540 ^@ NM_000038.5(APC):c.835-6252A>C http://identifiers.org/clinvar/82541 ^@ NM_000038.5(APC):c.835-5123C>T http://identifiers.org/clinvar/82542 ^@ NM_000038.5(APC):c.835-4928C>T http://identifiers.org/clinvar/82543 ^@ NM_000038.5(APC):c.835-4425A>C http://identifiers.org/clinvar/82544 ^@ NM_000038.5(APC):c.835-4348T>G http://identifiers.org/clinvar/82545 ^@ NM_000038.5(APC):c.835-4342A>G http://identifiers.org/clinvar/82546 ^@ NM_000038.5(APC):c.835-3533T>A http://identifiers.org/clinvar/82547 ^@ NM_000038.5(APC):c.835-3531G>T http://identifiers.org/clinvar/82548 ^@ NM_000038.5(APC):c.835-3022T>C http://identifiers.org/clinvar/82549 ^@ NM_000038.5(APC):c.835-1830C>T http://identifiers.org/clinvar/82550 ^@ NM_000038.5(APC):c.835-1827G>C http://identifiers.org/clinvar/82551 ^@ NM_000038.5(APC):c.835-1816A>G http://identifiers.org/clinvar/82552 ^@ NM_000038.5(APC):c.835-1654T>C http://identifiers.org/clinvar/82553 ^@ NM_000038.5(APC):c.835-1028A>C http://identifiers.org/clinvar/82554 ^@ NM_000038.5(APC):c.835-1026T>C http://identifiers.org/clinvar/82555 ^@ NM_000038.5(APC):c.835-630T>C http://identifiers.org/clinvar/82556 ^@ NM_000038.5(APC):c.933+79A>C http://identifiers.org/clinvar/82557 ^@ NM_000038.5(APC):c.933+81A>C http://identifiers.org/clinvar/82558 ^@ NM_000038.5(APC):c.933+277A>C http://identifiers.org/clinvar/82559 ^@ NM_000038.5(APC):c.933+517T>C http://identifiers.org/clinvar/82560 ^@ NM_000038.5(APC):c.933+916T>G http://identifiers.org/clinvar/82561 ^@ NM_000038.5(APC):c.933+939A>C http://identifiers.org/clinvar/82562 ^@ NM_000038.5(APC):c.933+1353G>C http://identifiers.org/clinvar/82563 ^@ NM_000038.5(APC):c.933+1540G>A http://identifiers.org/clinvar/82564 ^@ NM_000038.5(APC):c.934-515A>T http://identifiers.org/clinvar/82565 ^@ NM_000038.5(APC):c.934-123T>G http://identifiers.org/clinvar/82566 ^@ NM_000038.5(APC):c.934-122T>G http://identifiers.org/clinvar/82567 ^@ NM_000038.5(APC):c.934-120G>C http://identifiers.org/clinvar/82568 ^@ NM_000038.5(APC):c.1312+352C>T http://identifiers.org/clinvar/82569 ^@ NM_000038.5(APC):c.1312+1042A>C http://identifiers.org/clinvar/82570 ^@ NM_000038.5(APC):c.1312+1056A>C http://identifiers.org/clinvar/82571 ^@ NM_000038.5(APC):c.1312+1059A>C http://identifiers.org/clinvar/82572 ^@ NM_000038.5(APC):c.1313-476T>G http://identifiers.org/clinvar/82573 ^@ NM_000038.5(APC):c.1408+524C>A http://identifiers.org/clinvar/82574 ^@ NM_000038.5(APC):c.1408+792A>T http://identifiers.org/clinvar/82575 ^@ NM_000038.5(APC):c.1408+890C>A http://identifiers.org/clinvar/82576 ^@ NM_000038.5(APC):c.1408+2167A>T http://identifiers.org/clinvar/82577 ^@ NM_000038.5(APC):c.1409-2234C>T http://identifiers.org/clinvar/82578 ^@ NM_000038.5(APC):c.1409-1508C>A http://identifiers.org/clinvar/82579 ^@ NM_000038.5(APC):c.1409-934C>G http://identifiers.org/clinvar/82580 ^@ NM_000038.5(APC):c.1409-931G>T http://identifiers.org/clinvar/82581 ^@ NM_000038.5(APC):c.1409-434C>A http://identifiers.org/clinvar/82582 ^@ NM_000038.5(APC):c.1409-143G>T http://identifiers.org/clinvar/82583 ^@ NM_000038.5(APC):c.1548+293A>G http://identifiers.org/clinvar/82584 ^@ NM_000038.5(APC):c.1548+294G>T http://identifiers.org/clinvar/82585 ^@ NM_000038.5(APC):c.1743+439T>A http://identifiers.org/clinvar/82586 ^@ NM_000038.5(APC):c.1743+442G>C http://identifiers.org/clinvar/82587 ^@ NM_000038.5(APC):c.1743+527C>A http://identifiers.org/clinvar/82588 ^@ NM_000038.5(APC):c.1743+688T>G http://identifiers.org/clinvar/82589 ^@ NM_000038.5(APC):c.1743+690G>C http://identifiers.org/clinvar/82590 ^@ NM_000038.5(APC):c.1743+706C>T http://identifiers.org/clinvar/82591 ^@ NM_000038.5(APC):c.1743+1062A>C http://identifiers.org/clinvar/82592 ^@ NM_000038.5(APC):c.1743+1320G>A http://identifiers.org/clinvar/82593 ^@ NM_000038.5(APC):c.1743+1377C>A http://identifiers.org/clinvar/82594 ^@ NM_000038.5(APC):c.1743+1735T>G http://identifiers.org/clinvar/82595 ^@ NM_000038.5(APC):c.1743+1898A>T http://identifiers.org/clinvar/82596 ^@ NM_000038.5(APC):c.1743+1900G>T http://identifiers.org/clinvar/82597 ^@ NM_000038.5(APC):c.1743+2155T>G http://identifiers.org/clinvar/82598 ^@ NM_000038.5(APC):c.1743+2157A>T http://identifiers.org/clinvar/82599 ^@ NM_000038.5(APC):c.1743+2159A>T http://identifiers.org/clinvar/82600 ^@ NM_000038.5(APC):c.1743+2374A>C http://identifiers.org/clinvar/82601 ^@ NM_000038.5(APC):c.1743+2399T>G http://identifiers.org/clinvar/82602 ^@ NM_000038.5(APC):c.1743+2402T>G http://identifiers.org/clinvar/82603 ^@ NM_000038.5(APC):c.1744-2727G>A http://identifiers.org/clinvar/82604 ^@ NM_000038.5(APC):c.1744-2272A>C http://identifiers.org/clinvar/82605 ^@ NM_000038.5(APC):c.1744-1872T>C http://identifiers.org/clinvar/82606 ^@ NM_000038.5(APC):c.1744-1868T>C http://identifiers.org/clinvar/82607 ^@ NM_000038.5(APC):c.1744-1829T>C http://identifiers.org/clinvar/82608 ^@ NM_000038.5(APC):c.1744-1489T>G http://identifiers.org/clinvar/82609 ^@ NM_000038.5(APC):c.1744-980T>G http://identifiers.org/clinvar/82610 ^@ NM_000038.5(APC):c.1744-739T>G http://identifiers.org/clinvar/82611 ^@ NM_000038.5(APC):c.1744-731T>G http://identifiers.org/clinvar/82612 ^@ NM_000038.5(APC):c.1744-725A>C http://identifiers.org/clinvar/82613 ^@ NM_000038.5(APC):c.1744-722A>C http://identifiers.org/clinvar/82614 ^@ NM_000038.5(APC):c.1908T>G (p.Gly636=) http://identifiers.org/clinvar/82615 ^@ NM_000038.5(APC):c.1927T>C (p.Ser643Pro) http://identifiers.org/clinvar/82616 ^@ NM_000038.5(APC):c.1958+8T>C http://identifiers.org/clinvar/82617 ^@ NM_000038.5(APC):c.1958+397C>A http://identifiers.org/clinvar/82618 ^@ NM_000038.5(APC):c.1958+423T>G http://identifiers.org/clinvar/82619 ^@ NM_000038.5(APC):c.1958+632T>C http://identifiers.org/clinvar/82620 ^@ NM_000038.5(APC):c.1958+637G>C http://identifiers.org/clinvar/82621 ^@ NM_000038.5(APC):c.1958+692G>C http://identifiers.org/clinvar/82622 ^@ NM_000038.5(APC):c.1958+695A>C http://identifiers.org/clinvar/82623 ^@ NM_000038.5(APC):c.1958+732A>C http://identifiers.org/clinvar/82624 ^@ NM_000038.5(APC):c.1958+1012C>T http://identifiers.org/clinvar/82625 ^@ NM_000038.5(APC):c.1958+1013C>T http://identifiers.org/clinvar/82626 ^@ NM_000038.5(APC):c.1958+1133T>G http://identifiers.org/clinvar/82627 ^@ NM_000038.5(APC):c.1959-890A>G http://identifiers.org/clinvar/82628 ^@ NM_000038.5(APC):c.1959-838T>C http://identifiers.org/clinvar/82629 ^@ NM_000038.5(APC):c.1959-837C>T http://identifiers.org/clinvar/82630 ^@ NM_000038.5(APC):c.1959-766A>G http://identifiers.org/clinvar/82631 ^@ NM_000038.5(APC):c.2510C>G (p.Ser837Ter) http://identifiers.org/clinvar/82632 ^@ NM_000038.5(APC):c.2995C>A (p.Gln999Lys) http://identifiers.org/clinvar/82633 ^@ NM_000038.5(APC):c.4285C>A (p.Gln1429Lys) http://identifiers.org/clinvar/82634 ^@ NM_000038.5(APC):c.7049C>A (p.Ser2350Tyr) http://identifiers.org/clinvar/82635 ^@ NM_000038.5(APC):c.7513C>G (p.Arg2505Gly) http://identifiers.org/clinvar/82636 ^@ NM_000038.5(APC):c.8137A>C (p.Met2713Leu) http://identifiers.org/clinvar/82637 ^@ NM_000038.5(APC):c.*134C>G http://identifiers.org/clinvar/82638 ^@ NM_000038.5(APC):c.*634C>A http://identifiers.org/clinvar/82639 ^@ NM_000038.5(APC):c.*1535G>T http://identifiers.org/clinvar/82640 ^@ NM_000038.5(APC):c.*2090C>A http://identifiers.org/clinvar/82641 ^@ NC_000005.10:g.112847402A>C http://identifiers.org/clinvar/82642 ^@ NC_000005.10:g.112847807G>T http://identifiers.org/clinvar/82643 ^@ NC_000005.10:g.112848623A>G http://identifiers.org/clinvar/82644 ^@ NC_000005.10:g.112848914T>C http://identifiers.org/clinvar/82645 ^@ NC_000005.10:g.112849086T>G http://identifiers.org/clinvar/82646 ^@ NC_000005.10:g.112849092A>C http://identifiers.org/clinvar/82647 ^@ NC_000005.10:g.112849133A>G http://identifiers.org/clinvar/82648 ^@ NC_000005.10:g.112849163G>C http://identifiers.org/clinvar/82649 ^@ NC_000005.10:g.112849265A>C http://identifiers.org/clinvar/82650 ^@ NC_000005.10:g.112849302A>G http://identifiers.org/clinvar/82651 ^@ NC_000005.10:g.112849304C>G http://identifiers.org/clinvar/82652 ^@ NC_000005.10:g.112850623A>G http://identifiers.org/clinvar/82653 ^@ NC_000005.10:g.112850816T>A http://identifiers.org/clinvar/82654 ^@ NC_000005.10:g.112850818C>A http://identifiers.org/clinvar/82655 ^@ NC_000005.10:g.112850819A>C http://identifiers.org/clinvar/82656 ^@ NC_000005.10:g.112850820C>A http://identifiers.org/clinvar/82657 ^@ NC_000005.10:g.112850821A>C http://identifiers.org/clinvar/82658 ^@ NC_000005.10:g.112850822G>A http://identifiers.org/clinvar/82659 ^@ NC_000005.10:g.112850823A>T http://identifiers.org/clinvar/82660 ^@ NC_000005.10:g.112850824C>G http://identifiers.org/clinvar/82661 ^@ NC_000005.10:g.112850826A>G http://identifiers.org/clinvar/82662 ^@ NC_000005.10:g.112850827A>T http://identifiers.org/clinvar/82663 ^@ NC_000005.10:g.112850828T>G http://identifiers.org/clinvar/82664 ^@ NC_000005.10:g.112850829T>C http://identifiers.org/clinvar/82665 ^@ NC_000005.10:g.112850830C>A http://identifiers.org/clinvar/82666 ^@ NC_000005.10:g.112850831A>G http://identifiers.org/clinvar/82667 ^@ NC_000005.10:g.112850832T>C http://identifiers.org/clinvar/82668 ^@ NC_000005.10:g.112850833C>A http://identifiers.org/clinvar/82669 ^@ NC_000005.10:g.112850835G>A http://identifiers.org/clinvar/82670 ^@ NC_000005.10:g.112850836T>C http://identifiers.org/clinvar/82671 ^@ NC_000005.10:g.112850837A>C http://identifiers.org/clinvar/82672 ^@ NC_000005.10:g.112851075A>C http://identifiers.org/clinvar/82673 ^@ NC_000005.10:g.112851076G>T http://identifiers.org/clinvar/82674 ^@ NC_000005.10:g.112851077T>C http://identifiers.org/clinvar/82675 ^@ NC_000005.10:g.112851079G>T http://identifiers.org/clinvar/82676 ^@ NC_000005.10:g.112851080A>T http://identifiers.org/clinvar/82677 ^@ NC_000005.10:g.112851081G>T http://identifiers.org/clinvar/82678 ^@ NC_000005.10:g.112851082A>T http://identifiers.org/clinvar/82679 ^@ NC_000005.10:g.112851083C>G http://identifiers.org/clinvar/82680 ^@ NC_000005.10:g.112851085G>T http://identifiers.org/clinvar/82681 ^@ NC_000005.10:g.112851086G>T http://identifiers.org/clinvar/82682 ^@ NC_000005.10:g.112851087G>T http://identifiers.org/clinvar/82683 ^@ NC_000005.10:g.112851089T>G http://identifiers.org/clinvar/82684 ^@ NC_000005.10:g.112851090T>C http://identifiers.org/clinvar/82685 ^@ NC_000005.10:g.112851092A>C http://identifiers.org/clinvar/82686 ^@ NC_000005.10:g.112851093C>T http://identifiers.org/clinvar/82687 ^@ NC_000005.10:g.112851094C>G http://identifiers.org/clinvar/82688 ^@ NC_000005.10:g.112851096T>G http://identifiers.org/clinvar/82689 ^@ NC_000005.10:g.112851097T>C http://identifiers.org/clinvar/82690 ^@ NC_000005.10:g.112851098T>C http://identifiers.org/clinvar/82691 ^@ NC_000005.10:g.112851099T>A http://identifiers.org/clinvar/82692 ^@ NC_000005.10:g.112851100G>C http://identifiers.org/clinvar/82693 ^@ NC_000005.10:g.112851101G>A http://identifiers.org/clinvar/82694 ^@ NC_000005.10:g.112851102T>A http://identifiers.org/clinvar/82695 ^@ NC_000005.10:g.112851103C>A http://identifiers.org/clinvar/82696 ^@ NM_001127511.2(APC):c.165+20015G>A http://identifiers.org/clinvar/82697 ^@ NM_001127511.2(APC):c.165+20045A>C http://identifiers.org/clinvar/82698 ^@ NM_001127511.2(APC):c.165+20046C>T http://identifiers.org/clinvar/82699 ^@ NM_001127511.2(APC):c.165+20047C>T http://identifiers.org/clinvar/82700 ^@ NM_001127511.2(APC):c.165+20065C>A http://identifiers.org/clinvar/82701 ^@ NM_001127511.2(APC):c.165+20386C>A http://identifiers.org/clinvar/82702 ^@ NM_001127511.2(APC):c.165+20389G>C http://identifiers.org/clinvar/82703 ^@ NM_001127511.2(APC):c.165+20391G>C http://identifiers.org/clinvar/82704 ^@ NM_001127511.2(APC):c.165+20395A>C http://identifiers.org/clinvar/82705 ^@ NM_001127511.2(APC):c.165+20431G>T http://identifiers.org/clinvar/82706 ^@ NM_001127511.2(APC):c.165+20531T>G http://identifiers.org/clinvar/82707 ^@ NM_001127511.2(APC):c.165+20768T>G http://identifiers.org/clinvar/82708 ^@ NM_001127511.2(APC):c.165+20769G>T http://identifiers.org/clinvar/82709 ^@ NM_001127511.2(APC):c.165+20821G>A http://identifiers.org/clinvar/82710 ^@ NM_001127511.2(APC):c.165+20822T>G http://identifiers.org/clinvar/82711 ^@ NM_001127511.2(APC):c.165+20896A>T http://identifiers.org/clinvar/82712 ^@ NM_001127511.2(APC):c.165+21247G>C http://identifiers.org/clinvar/82713 ^@ NM_001127511.2(APC):c.165+22445G>T http://identifiers.org/clinvar/82714 ^@ NM_001127511.2(APC):c.165+22536G>T http://identifiers.org/clinvar/82715 ^@ NM_001127511.2(APC):c.165+22945G>C http://identifiers.org/clinvar/82716 ^@ NM_001127511.2(APC):c.165+23128C>A http://identifiers.org/clinvar/82717 ^@ NM_001127511.2(APC):c.165+23563C>T http://identifiers.org/clinvar/82718 ^@ NM_001127511.2(APC):c.165+23715G>T http://identifiers.org/clinvar/82719 ^@ NM_001127511.2(APC):c.165+25302G>T http://identifiers.org/clinvar/82720 ^@ NM_001127511.2(APC):c.165+25847T>G http://identifiers.org/clinvar/82721 ^@ NM_001127511.2(APC):c.165+25849G>C http://identifiers.org/clinvar/82722 ^@ NM_001127511.2(APC):c.165+26911G>T http://identifiers.org/clinvar/82723 ^@ NM_001127511.2(APC):c.165+26986G>A http://identifiers.org/clinvar/82724 ^@ NM_001127511.2(APC):c.165+27344A>G http://identifiers.org/clinvar/82725 ^@ NM_001127511.2(APC):c.165+27358A>G http://identifiers.org/clinvar/82726 ^@ NM_001127511.2(APC):c.165+27849C>A http://identifiers.org/clinvar/82727 ^@ NM_000038.5(APC):c.-1620T>C http://identifiers.org/clinvar/82728 ^@ NM_000038.5(APC):c.-1619G>T http://identifiers.org/clinvar/82729 ^@ NM_000038.5(APC):c.-579T>A http://identifiers.org/clinvar/82730 ^@ NM_000038.5(APC):c.-578A>T http://identifiers.org/clinvar/82731 ^@ NM_000038.5(APC):c.-547A>T http://identifiers.org/clinvar/82732 ^@ NM_000038.5(APC):c.-401T>C http://identifiers.org/clinvar/82733 ^@ NM_000038.5(APC):c.-357T>C http://identifiers.org/clinvar/82734 ^@ NM_000038.5(APC):c.-332C>A http://identifiers.org/clinvar/82735 ^@ NM_000038.5(APC):c.-131G>C http://identifiers.org/clinvar/82736 ^@ NM_000038.5(APC):c.-84T>G http://identifiers.org/clinvar/82737 ^@ NM_000038.5(APC):c.-19+42A>G http://identifiers.org/clinvar/82738 ^@ NM_000038.5(APC):c.-19+141T>C http://identifiers.org/clinvar/82739 ^@ NM_000038.5(APC):c.-19+148G>C http://identifiers.org/clinvar/82740 ^@ NM_000038.5(APC):c.-19+559T>G http://identifiers.org/clinvar/82741 ^@ NM_000038.5(APC):c.-19+563G>T http://identifiers.org/clinvar/82742 ^@ NM_000038.5(APC):c.-19+647A>G http://identifiers.org/clinvar/82743 ^@ NM_000038.5(APC):c.-19+694G>T http://identifiers.org/clinvar/82744 ^@ NM_000038.5(APC):c.-19+734C>T http://identifiers.org/clinvar/82745 ^@ NM_000038.5(APC):c.-19+797C>A http://identifiers.org/clinvar/82746 ^@ NM_000038.5(APC):c.-19+888G>T http://identifiers.org/clinvar/82747 ^@ NM_000038.5(APC):c.-19+894G>T http://identifiers.org/clinvar/82748 ^@ NM_000038.5(APC):c.-19+1100C>G http://identifiers.org/clinvar/82749 ^@ NM_000038.5(APC):c.-19+1328C>A http://identifiers.org/clinvar/82750 ^@ NM_000038.5(APC):c.-19+1416G>T http://identifiers.org/clinvar/82751 ^@ NM_000038.5(APC):c.-19+1718A>G http://identifiers.org/clinvar/82752 ^@ NM_000038.5(APC):c.-19+1721A>G http://identifiers.org/clinvar/82753 ^@ NM_000038.5(APC):c.-19+1830G>A http://identifiers.org/clinvar/82754 ^@ NM_000038.5(APC):c.-19+2325T>C http://identifiers.org/clinvar/82755 ^@ NM_000038.5(APC):c.-19+2868T>G http://identifiers.org/clinvar/82756 ^@ NM_000038.5(APC):c.-19+3825T>A http://identifiers.org/clinvar/82757 ^@ NM_000038.5(APC):c.-19+3861T>C http://identifiers.org/clinvar/82758 ^@ NM_000038.5(APC):c.-19+3876G>C http://identifiers.org/clinvar/82759 ^@ NM_000038.5(APC):c.-19+4059C>T http://identifiers.org/clinvar/82760 ^@ NM_000038.5(APC):c.-19+4148A>G http://identifiers.org/clinvar/82761 ^@ NM_000038.5(APC):c.-19+4298G>C http://identifiers.org/clinvar/82762 ^@ NM_000038.5(APC):c.-19+4791C>A http://identifiers.org/clinvar/82763 ^@ NM_000038.5(APC):c.-19+6005C>T http://identifiers.org/clinvar/82764 ^@ NM_000038.5(APC):c.-19+6007G>T http://identifiers.org/clinvar/82765 ^@ NM_000038.5(APC):c.-19+6054C>A http://identifiers.org/clinvar/82766 ^@ NM_000038.5(APC):c.-19+6260T>G http://identifiers.org/clinvar/82767 ^@ NM_000038.5(APC):c.-19+6803G>A http://identifiers.org/clinvar/82768 ^@ NM_000038.5(APC):c.-19+6806A>T http://identifiers.org/clinvar/82769 ^@ NM_000038.5(APC):c.-19+6807G>A http://identifiers.org/clinvar/82770 ^@ NM_000038.5(APC):c.-19+7106G>A http://identifiers.org/clinvar/82771 ^@ NM_000038.5(APC):c.-19+7205G>A http://identifiers.org/clinvar/82772 ^@ NM_000038.5(APC):c.-19+7206G>T http://identifiers.org/clinvar/82773 ^@ NM_000038.5(APC):c.-19+7757C>A http://identifiers.org/clinvar/82774 ^@ NM_000038.5(APC):c.-19+7791T>G http://identifiers.org/clinvar/82775 ^@ NM_000038.5(APC):c.-19+7793C>G http://identifiers.org/clinvar/82776 ^@ NM_000038.5(APC):c.-19+7795A>C http://identifiers.org/clinvar/82777 ^@ NM_000038.5(APC):c.-19+8064G>T http://identifiers.org/clinvar/82778 ^@ NM_000038.5(APC):c.-19+8065G>T http://identifiers.org/clinvar/82779 ^@ NM_000038.5(APC):c.-19+8302A>G http://identifiers.org/clinvar/82780 ^@ NM_000038.5(APC):c.-19+8413C>A http://identifiers.org/clinvar/82781 ^@ NM_000038.5(APC):c.-19+8468T>G http://identifiers.org/clinvar/82782 ^@ NM_000038.5(APC):c.-19+8469A>C http://identifiers.org/clinvar/82783 ^@ NM_000038.5(APC):c.-19+8470A>C http://identifiers.org/clinvar/82784 ^@ NM_000038.5(APC):c.-18-8447A>T http://identifiers.org/clinvar/82785 ^@ NM_000038.5(APC):c.-18-7765C>A http://identifiers.org/clinvar/82786 ^@ NM_000038.5(APC):c.-18-7760G>C http://identifiers.org/clinvar/82787 ^@ NM_000038.5(APC):c.-18-7698C>A http://identifiers.org/clinvar/82788 ^@ NM_000038.5(APC):c.-18-7632A>G http://identifiers.org/clinvar/82789 ^@ NM_000038.5(APC):c.-18-7625A>G http://identifiers.org/clinvar/82790 ^@ NM_000038.5(APC):c.-18-7621C>A http://identifiers.org/clinvar/82791 ^@ NM_000038.5(APC):c.-18-6234A>G http://identifiers.org/clinvar/82792 ^@ NM_000038.5(APC):c.-18-5318G>C http://identifiers.org/clinvar/82793 ^@ NM_000038.5(APC):c.-18-5113C>A http://identifiers.org/clinvar/82794 ^@ NM_000038.5(APC):c.-18-5070A>G http://identifiers.org/clinvar/82795 ^@ NM_000038.5(APC):c.-18-4959T>G http://identifiers.org/clinvar/82796 ^@ NM_000038.5(APC):c.-18-4635C>A http://identifiers.org/clinvar/82797 ^@ NM_000038.5(APC):c.-18-4631C>A http://identifiers.org/clinvar/82798 ^@ NM_000038.5(APC):c.-18-4626G>C http://identifiers.org/clinvar/82799 ^@ NM_000038.5(APC):c.-18-4405T>A http://identifiers.org/clinvar/82800 ^@ NM_000038.5(APC):c.-18-3696C>T http://identifiers.org/clinvar/82801 ^@ NM_000038.5(APC):c.-18-3243T>G http://identifiers.org/clinvar/82802 ^@ NM_000038.5(APC):c.-18-3206C>A http://identifiers.org/clinvar/82803 ^@ NM_000038.5(APC):c.-18-2858T>C http://identifiers.org/clinvar/82804 ^@ NM_000038.5(APC):c.-18-2634C>A http://identifiers.org/clinvar/82805 ^@ NM_000038.5(APC):c.-18-2625C>A http://identifiers.org/clinvar/82806 ^@ NM_000038.5(APC):c.-18-2126C>G http://identifiers.org/clinvar/82807 ^@ NM_000038.5(APC):c.-18-2063G>A http://identifiers.org/clinvar/82808 ^@ NM_000038.5(APC):c.-18-1966T>G http://identifiers.org/clinvar/82809 ^@ NM_000038.5(APC):c.-18-1288T>C http://identifiers.org/clinvar/82810 ^@ NM_000038.5(APC):c.-18-1121C>T http://identifiers.org/clinvar/82811 ^@ NM_000038.5(APC):c.-18-1090T>C http://identifiers.org/clinvar/82812 ^@ NM_000038.5(APC):c.-18-966G>T http://identifiers.org/clinvar/82813 ^@ NM_000038.5(APC):c.-18-807C>A http://identifiers.org/clinvar/82814 ^@ NM_000038.5(APC):c.-18-398A>C http://identifiers.org/clinvar/82815 ^@ NM_000038.5(APC):c.-18-396T>A http://identifiers.org/clinvar/82816 ^@ NM_000038.5(APC):c.-18-251G>A http://identifiers.org/clinvar/82817 ^@ NM_000038.5(APC):c.-18-250C>G http://identifiers.org/clinvar/82818 ^@ NM_000038.5(APC):c.-18-151G>T http://identifiers.org/clinvar/82819 ^@ NM_000038.5(APC):c.-18-136G>T http://identifiers.org/clinvar/82820 ^@ NM_000038.5(APC):c.-18-56C>A http://identifiers.org/clinvar/82821 ^@ NM_000038.5(APC):c.-18-53G>C http://identifiers.org/clinvar/82822 ^@ NM_000038.5(APC):c.135+610G>T http://identifiers.org/clinvar/82823 ^@ NM_000038.5(APC):c.135+982C>G http://identifiers.org/clinvar/82824 ^@ NM_000038.5(APC):c.135+1680T>G http://identifiers.org/clinvar/82825 ^@ NM_000038.5(APC):c.135+3577G>C http://identifiers.org/clinvar/82826 ^@ NM_000038.5(APC):c.135+3578C>A http://identifiers.org/clinvar/82827 ^@ NM_000038.5(APC):c.135+3580T>G http://identifiers.org/clinvar/82828 ^@ NM_000038.5(APC):c.135+3583G>C http://identifiers.org/clinvar/82829 ^@ NM_000038.5(APC):c.135+3682G>A http://identifiers.org/clinvar/82830 ^@ NM_000038.5(APC):c.135+3821A>C http://identifiers.org/clinvar/82831 ^@ NM_000038.5(APC):c.135+4410G>T http://identifiers.org/clinvar/82832 ^@ NM_000038.5(APC):c.135+4610G>A http://identifiers.org/clinvar/82833 ^@ NM_000038.5(APC):c.135+4611T>G http://identifiers.org/clinvar/82834 ^@ NM_000038.5(APC):c.135+4777T>A http://identifiers.org/clinvar/82835 ^@ NM_000038.5(APC):c.135+4782G>C http://identifiers.org/clinvar/82836 ^@ NM_000038.5(APC):c.135+5053T>A http://identifiers.org/clinvar/82837 ^@ NM_000038.5(APC):c.136-5501T>C http://identifiers.org/clinvar/82838 ^@ NM_000038.5(APC):c.136-5236T>G http://identifiers.org/clinvar/82839 ^@ NM_000038.5(APC):c.136-5233G>C http://identifiers.org/clinvar/82840 ^@ NM_000038.5(APC):c.136-4789G>A http://identifiers.org/clinvar/82841 ^@ NM_000038.5(APC):c.136-4684C>T http://identifiers.org/clinvar/82842 ^@ NM_000038.5(APC):c.136-4681G>T http://identifiers.org/clinvar/82843 ^@ NM_000038.5(APC):c.136-4266A>G http://identifiers.org/clinvar/82844 ^@ NM_000038.5(APC):c.136-3456A>T http://identifiers.org/clinvar/82845 ^@ NM_000038.5(APC):c.136-3112G>A http://identifiers.org/clinvar/82846 ^@ NM_000038.5(APC):c.136-3085T>A http://identifiers.org/clinvar/82847 ^@ NM_000038.5(APC):c.136-2995A>G http://identifiers.org/clinvar/82848 ^@ NM_000038.5(APC):c.136-2963T>G http://identifiers.org/clinvar/82849 ^@ NM_000038.5(APC):c.136-2954T>C http://identifiers.org/clinvar/82850 ^@ NM_000038.5(APC):c.136-2831A>T http://identifiers.org/clinvar/82851 ^@ NM_000038.5(APC):c.136-2830T>A http://identifiers.org/clinvar/82852 ^@ NM_000038.5(APC):c.136-2828T>A http://identifiers.org/clinvar/82853 ^@ NM_000038.5(APC):c.136-2827G>C http://identifiers.org/clinvar/82854 ^@ NM_000038.5(APC):c.136-2527G>A http://identifiers.org/clinvar/82855 ^@ NM_000038.5(APC):c.136-2358T>G http://identifiers.org/clinvar/82856 ^@ NM_000038.5(APC):c.136-2355C>G http://identifiers.org/clinvar/82857 ^@ NM_000038.5(APC):c.136-2230A>T http://identifiers.org/clinvar/82858 ^@ NM_000038.5(APC):c.136-2228T>A http://identifiers.org/clinvar/82859 ^@ NM_000038.5(APC):c.136-1996G>A http://identifiers.org/clinvar/82860 ^@ NM_000038.5(APC):c.136-1966T>A http://identifiers.org/clinvar/82861 ^@ NM_000038.5(APC):c.136-1965A>G http://identifiers.org/clinvar/82862 ^@ NM_000038.5(APC):c.136-1728A>G http://identifiers.org/clinvar/82863 ^@ NM_000038.5(APC):c.136-1428A>C http://identifiers.org/clinvar/82864 ^@ NM_000038.5(APC):c.136-1084C>A http://identifiers.org/clinvar/82865 ^@ NM_000038.5(APC):c.136-1041T>G http://identifiers.org/clinvar/82866 ^@ NM_000038.5(APC):c.136-1001G>T http://identifiers.org/clinvar/82867 ^@ NM_000038.5(APC):c.136-808G>T http://identifiers.org/clinvar/82868 ^@ NM_000038.5(APC):c.136-566G>T http://identifiers.org/clinvar/82869 ^@ NM_000038.5(APC):c.136-527G>A http://identifiers.org/clinvar/82870 ^@ NM_000038.5(APC):c.136-350A>G http://identifiers.org/clinvar/82871 ^@ NM_000038.5(APC):c.136-230C>A http://identifiers.org/clinvar/82872 ^@ NM_000038.5(APC):c.136-220G>C http://identifiers.org/clinvar/82873 ^@ NM_000038.5(APC):c.136-53T>C http://identifiers.org/clinvar/82874 ^@ NM_000038.5(APC):c.185C>T (p.Ser62Phe) http://identifiers.org/clinvar/82875 ^@ NM_000038.5(APC):c.190G>T (p.Gly64Ter) http://identifiers.org/clinvar/82876 ^@ NM_000038.5(APC):c.311C>A (p.Ser104Ter) http://identifiers.org/clinvar/82877 ^@ NM_000038.5(APC):c.422+365C>A http://identifiers.org/clinvar/82878 ^@ NM_000038.5(APC):c.422+876C>G http://identifiers.org/clinvar/82879 ^@ NM_000038.5(APC):c.422+1096C>A http://identifiers.org/clinvar/82880 ^@ NM_000038.5(APC):c.422+1210A>G http://identifiers.org/clinvar/82881 ^@ NM_000038.5(APC):c.422+1584T>C http://identifiers.org/clinvar/82882 ^@ NM_000038.5(APC):c.422+1942T>G http://identifiers.org/clinvar/82883 ^@ NM_000038.5(APC):c.422+2121T>G http://identifiers.org/clinvar/82884 ^@ NM_000038.5(APC):c.422+2136A>T http://identifiers.org/clinvar/82885 ^@ NM_000038.5(APC):c.422+2447G>A http://identifiers.org/clinvar/82886 ^@ NM_000038.5(APC):c.422+3533G>T http://identifiers.org/clinvar/82887 ^@ NM_000038.5(APC):c.422+3971G>A http://identifiers.org/clinvar/82888 ^@ NM_000038.5(APC):c.422+3997C>A http://identifiers.org/clinvar/82889 ^@ NM_000038.5(APC):c.423-3600C>T http://identifiers.org/clinvar/82890 ^@ NM_000038.5(APC):c.423-3307C>A http://identifiers.org/clinvar/82891 ^@ NM_000038.5(APC):c.423-3167T>A http://identifiers.org/clinvar/82892 ^@ NM_000038.5(APC):c.423-3166C>A http://identifiers.org/clinvar/82893 ^@ NM_000038.5(APC):c.423-3162A>C http://identifiers.org/clinvar/82894 ^@ NM_000038.5(APC):c.423-3029T>C http://identifiers.org/clinvar/82895 ^@ NM_000038.5(APC):c.423-2829A>C http://identifiers.org/clinvar/82896 ^@ NM_000038.5(APC):c.423-2461T>C http://identifiers.org/clinvar/82897 ^@ NM_000038.5(APC):c.423-2396C>A http://identifiers.org/clinvar/82898 ^@ NM_000038.5(APC):c.423-2365T>C http://identifiers.org/clinvar/82899 ^@ NM_000038.5(APC):c.423-2364T>A http://identifiers.org/clinvar/82900 ^@ NM_000038.5(APC):c.423-2361C>A http://identifiers.org/clinvar/82901 ^@ NM_000038.5(APC):c.423-1547G>C http://identifiers.org/clinvar/82902 ^@ NM_000038.5(APC):c.423-1515A>G http://identifiers.org/clinvar/82903 ^@ NM_000038.5(APC):c.423-1514T>A http://identifiers.org/clinvar/82904 ^@ NM_000038.5(APC):c.423-1511C>A http://identifiers.org/clinvar/82905 ^@ NM_000038.5(APC):c.423-686G>T http://identifiers.org/clinvar/82906 ^@ NM_000038.5(APC):c.423-680G>A http://identifiers.org/clinvar/82907 ^@ NM_000038.5(APC):c.423-666G>A http://identifiers.org/clinvar/82908 ^@ NM_000038.5(APC):c.423-455G>T http://identifiers.org/clinvar/82909 ^@ NM_000038.5(APC):c.423-454G>T http://identifiers.org/clinvar/82910 ^@ NM_000038.5(APC):c.423-256G>A http://identifiers.org/clinvar/82911 ^@ NM_000038.5(APC):c.423-16A>T http://identifiers.org/clinvar/82912 ^@ NM_000038.5(APC):c.531+29G>T http://identifiers.org/clinvar/82913 ^@ NM_000038.5(APC):c.531+136G>T http://identifiers.org/clinvar/82914 ^@ NM_000038.5(APC):c.531+171G>T http://identifiers.org/clinvar/82915 ^@ NM_000038.5(APC):c.531+432G>C http://identifiers.org/clinvar/82916 ^@ NM_000038.5(APC):c.531+1125T>A http://identifiers.org/clinvar/82917 ^@ NM_000038.5(APC):c.531+1313C>G http://identifiers.org/clinvar/82918 ^@ NM_000038.5(APC):c.531+1317A>T http://identifiers.org/clinvar/82919 ^@ NM_000038.5(APC):c.531+1340C>T http://identifiers.org/clinvar/82920 ^@ NM_000038.5(APC):c.531+1421G>A http://identifiers.org/clinvar/82921 ^@ NM_000038.5(APC):c.531+1477G>T http://identifiers.org/clinvar/82922 ^@ NM_000038.5(APC):c.531+1517T>C http://identifiers.org/clinvar/82923 ^@ NM_000038.5(APC):c.531+1768C>A http://identifiers.org/clinvar/82924 ^@ NM_000038.5(APC):c.531+2093A>T http://identifiers.org/clinvar/82925 ^@ NM_000038.5(APC):c.531+2301C>T http://identifiers.org/clinvar/82926 ^@ NM_000038.5(APC):c.531+2326T>C http://identifiers.org/clinvar/82927 ^@ NM_000038.5(APC):c.531+2338G>A http://identifiers.org/clinvar/82928 ^@ NM_000038.5(APC):c.532-2420C>G http://identifiers.org/clinvar/82929 ^@ NM_000038.5(APC):c.532-2307G>A http://identifiers.org/clinvar/82930 ^@ NM_000038.5(APC):c.532-1966T>G http://identifiers.org/clinvar/82931 ^@ NM_000038.5(APC):c.532-1772G>T http://identifiers.org/clinvar/82932 ^@ NM_000038.5(APC):c.532-1128G>T http://identifiers.org/clinvar/82933 ^@ NM_000038.5(APC):c.532-1110G>T http://identifiers.org/clinvar/82934 ^@ NM_000038.5(APC):c.532-463C>T http://identifiers.org/clinvar/82935 ^@ NM_000038.5(APC):c.532-418G>A http://identifiers.org/clinvar/82936 ^@ NM_000038.5(APC):c.645+116G>T http://identifiers.org/clinvar/82937 ^@ NM_000038.5(APC):c.645+129A>C http://identifiers.org/clinvar/82938 ^@ NM_000038.5(APC):c.645+151G>T http://identifiers.org/clinvar/82939 ^@ NM_000038.5(APC):c.645+173A>G http://identifiers.org/clinvar/82940 ^@ NM_000038.5(APC):c.645+541T>A http://identifiers.org/clinvar/82941 ^@ NM_000038.5(APC):c.645+572T>C http://identifiers.org/clinvar/82942 ^@ NM_000038.5(APC):c.645+574A>T http://identifiers.org/clinvar/82943 ^@ NM_000038.5(APC):c.645+792C>A http://identifiers.org/clinvar/82944 ^@ NM_000038.5(APC):c.645+794G>T http://identifiers.org/clinvar/82945 ^@ NM_000038.5(APC):c.645+875T>C http://identifiers.org/clinvar/82946 ^@ NM_000038.5(APC):c.645+1460G>A http://identifiers.org/clinvar/82947 ^@ NM_000038.5(APC):c.645+1468C>A http://identifiers.org/clinvar/82948 ^@ NM_000038.5(APC):c.645+1595G>A http://identifiers.org/clinvar/82949 ^@ NM_000038.5(APC):c.645+1738G>A http://identifiers.org/clinvar/82950 ^@ NM_000038.5(APC):c.645+2356C>T http://identifiers.org/clinvar/82951 ^@ NM_000038.5(APC):c.645+2532T>G http://identifiers.org/clinvar/82952 ^@ NM_000038.5(APC):c.645+2607A>C http://identifiers.org/clinvar/82953 ^@ NM_000038.5(APC):c.645+2702C>A http://identifiers.org/clinvar/82954 ^@ NM_000038.5(APC):c.645+2922A>T http://identifiers.org/clinvar/82955 ^@ NM_000038.5(APC):c.645+2923C>A http://identifiers.org/clinvar/82956 ^@ NM_000038.5(APC):c.645+2924C>A http://identifiers.org/clinvar/82957 ^@ NM_000038.5(APC):c.645+2955G>A http://identifiers.org/clinvar/82958 ^@ NM_000038.5(APC):c.645+2956T>A http://identifiers.org/clinvar/82959 ^@ NM_000038.5(APC):c.645+3066G>T http://identifiers.org/clinvar/82960 ^@ NM_000038.5(APC):c.645+3449G>C http://identifiers.org/clinvar/82961 ^@ NM_000038.5(APC):c.645+4367G>T http://identifiers.org/clinvar/82962 ^@ NM_000038.5(APC):c.645+4368C>T http://identifiers.org/clinvar/82963 ^@ NM_000038.5(APC):c.645+4547C>A http://identifiers.org/clinvar/82964 ^@ NM_000038.5(APC):c.645+4775C>A http://identifiers.org/clinvar/82965 ^@ NM_000038.5(APC):c.645+5258C>A http://identifiers.org/clinvar/82966 ^@ NM_000038.5(APC):c.646-5611G>C http://identifiers.org/clinvar/82967 ^@ NM_000038.5(APC):c.646-5554T>C http://identifiers.org/clinvar/82968 ^@ NM_000038.5(APC):c.646-5274G>C http://identifiers.org/clinvar/82969 ^@ NM_000038.5(APC):c.646-5193G>T http://identifiers.org/clinvar/82970 ^@ NM_000038.5(APC):c.646-5189C>T http://identifiers.org/clinvar/82971 ^@ NM_000038.5(APC):c.646-4934A>G http://identifiers.org/clinvar/82972 ^@ NM_000038.5(APC):c.646-4667G>T http://identifiers.org/clinvar/82973 ^@ NM_000038.5(APC):c.646-4665G>T http://identifiers.org/clinvar/82974 ^@ NM_000038.5(APC):c.646-4545A>G http://identifiers.org/clinvar/82975 ^@ NM_000038.5(APC):c.646-4395C>A http://identifiers.org/clinvar/82976 ^@ NM_000038.5(APC):c.646-4096G>T http://identifiers.org/clinvar/82977 ^@ NM_000038.5(APC):c.646-4015T>C http://identifiers.org/clinvar/82978 ^@ NM_000038.5(APC):c.646-4010G>A http://identifiers.org/clinvar/82979 ^@ NM_000038.5(APC):c.646-4009A>C http://identifiers.org/clinvar/82980 ^@ NM_000038.5(APC):c.646-3774T>C http://identifiers.org/clinvar/82981 ^@ NM_000038.5(APC):c.646-3762T>C http://identifiers.org/clinvar/82982 ^@ NM_000038.5(APC):c.646-3040C>T http://identifiers.org/clinvar/82983 ^@ NM_000038.5(APC):c.646-3037C>T http://identifiers.org/clinvar/82984 ^@ NM_000038.5(APC):c.646-3035A>T http://identifiers.org/clinvar/82985 ^@ NM_000038.5(APC):c.646-2724A>G http://identifiers.org/clinvar/82986 ^@ NM_000038.5(APC):c.646-2576T>C http://identifiers.org/clinvar/82987 ^@ NM_000038.5(APC):c.646-2575C>T http://identifiers.org/clinvar/82988 ^@ NM_000038.5(APC):c.646-2481T>A http://identifiers.org/clinvar/82989 ^@ NM_000038.5(APC):c.646-2478T>C http://identifiers.org/clinvar/82990 ^@ NM_000038.5(APC):c.646-2133T>G http://identifiers.org/clinvar/82991 ^@ NM_000038.5(APC):c.646-2123G>T http://identifiers.org/clinvar/82992 ^@ NM_000038.5(APC):c.646-2105G>T http://identifiers.org/clinvar/82993 ^@ NM_000038.5(APC):c.646-1833G>C http://identifiers.org/clinvar/82994 ^@ NM_000038.5(APC):c.646-1798T>C http://identifiers.org/clinvar/82995 ^@ NM_000038.5(APC):c.646-1550C>A http://identifiers.org/clinvar/82996 ^@ NM_000038.5(APC):c.646-1466T>G http://identifiers.org/clinvar/82997 ^@ NM_000038.5(APC):c.646-1465A>T http://identifiers.org/clinvar/82998 ^@ NM_000038.5(APC):c.646-1464T>G http://identifiers.org/clinvar/82999 ^@ NM_000038.5(APC):c.646-755A>T http://identifiers.org/clinvar/83000 ^@ NM_000038.5(APC):c.646-754G>A http://identifiers.org/clinvar/83001 ^@ NM_000038.5(APC):c.646-721A>T http://identifiers.org/clinvar/83002 ^@ NM_000038.5(APC):c.646-684T>C http://identifiers.org/clinvar/83003 ^@ NM_000038.5(APC):c.646-309T>G http://identifiers.org/clinvar/83004 ^@ NM_000038.5(APC):c.646-85C>T http://identifiers.org/clinvar/83005 ^@ NM_000038.5(APC):c.646-75G>T http://identifiers.org/clinvar/83006 ^@ NM_000038.5(APC):c.646-1G>T http://identifiers.org/clinvar/83007 ^@ NM_000038.5(APC):c.729+968A>T http://identifiers.org/clinvar/83008 ^@ NM_000038.5(APC):c.729+969C>A http://identifiers.org/clinvar/83009 ^@ NM_000038.5(APC):c.729+1528G>A http://identifiers.org/clinvar/83010 ^@ NM_000038.5(APC):c.729+1830C>G http://identifiers.org/clinvar/83011 ^@ NM_000038.5(APC):c.729+1832T>G http://identifiers.org/clinvar/83012 ^@ NM_000038.5(APC):c.729+1860C>A http://identifiers.org/clinvar/83013 ^@ NM_000038.5(APC):c.729+2014C>A http://identifiers.org/clinvar/83014 ^@ NM_000038.5(APC):c.729+2019G>C http://identifiers.org/clinvar/83015 ^@ NM_000038.5(APC):c.729+2220T>C http://identifiers.org/clinvar/83016 ^@ NM_000038.5(APC):c.729+2222C>A http://identifiers.org/clinvar/83017 ^@ NM_000038.5(APC):c.729+2776C>A http://identifiers.org/clinvar/83018 ^@ NM_000038.5(APC):c.729+3062A>G http://identifiers.org/clinvar/83019 ^@ NM_000038.5(APC):c.729+3561A>G http://identifiers.org/clinvar/83020 ^@ NM_000038.5(APC):c.729+4308A>T http://identifiers.org/clinvar/83021 ^@ NM_000038.5(APC):c.730-4269T>A http://identifiers.org/clinvar/83022 ^@ NM_000038.5(APC):c.730-2883G>T http://identifiers.org/clinvar/83023 ^@ NM_000038.5(APC):c.730-2658A>G http://identifiers.org/clinvar/83024 ^@ NM_000038.5(APC):c.730-2624C>A http://identifiers.org/clinvar/83025 ^@ NM_000038.5(APC):c.730-2473G>T http://identifiers.org/clinvar/83026 ^@ NM_000038.5(APC):c.730-2333A>C http://identifiers.org/clinvar/83027 ^@ NM_000038.5(APC):c.730-2236C>A http://identifiers.org/clinvar/83028 ^@ NM_000038.5(APC):c.730-2198C>G http://identifiers.org/clinvar/83029 ^@ NM_000038.5(APC):c.730-2196C>G http://identifiers.org/clinvar/83030 ^@ NM_000038.5(APC):c.730-1909T>C http://identifiers.org/clinvar/83031 ^@ NM_000038.5(APC):c.730-1886G>A http://identifiers.org/clinvar/83032 ^@ NM_000038.5(APC):c.730-1879T>C http://identifiers.org/clinvar/83033 ^@ NM_000038.5(APC):c.730-1797C>G http://identifiers.org/clinvar/83034 ^@ NM_000038.5(APC):c.730-1477T>A http://identifiers.org/clinvar/83035 ^@ NM_000038.5(APC):c.730-1255T>A http://identifiers.org/clinvar/83036 ^@ NM_000038.5(APC):c.730-1239A>G http://identifiers.org/clinvar/83037 ^@ NM_000038.5(APC):c.730-772A>G http://identifiers.org/clinvar/83038 ^@ NM_000038.5(APC):c.730-565G>T http://identifiers.org/clinvar/83039 ^@ NM_000038.5(APC):c.730-165C>T http://identifiers.org/clinvar/83040 ^@ NM_000038.5(APC):c.730-163C>T http://identifiers.org/clinvar/83041 ^@ NM_000038.5(APC):c.730-162C>G http://identifiers.org/clinvar/83042 ^@ NM_000038.5(APC):c.730-130C>G http://identifiers.org/clinvar/83043 ^@ NM_000038.5(APC):c.730-128G>T http://identifiers.org/clinvar/83044 ^@ NM_000038.5(APC):c.834+1109G>A http://identifiers.org/clinvar/83045 ^@ NM_000038.5(APC):c.834+1163G>A http://identifiers.org/clinvar/83046 ^@ NM_000038.5(APC):c.834+1654G>A http://identifiers.org/clinvar/83047 ^@ NM_000038.5(APC):c.834+1808G>C http://identifiers.org/clinvar/83048 ^@ NM_000038.5(APC):c.834+2554A>C http://identifiers.org/clinvar/83049 ^@ NM_000038.5(APC):c.834+2665A>G http://identifiers.org/clinvar/83050 ^@ NM_000038.5(APC):c.834+3276T>G http://identifiers.org/clinvar/83051 ^@ NM_000038.5(APC):c.834+3389T>C http://identifiers.org/clinvar/83052 ^@ NM_000038.5(APC):c.834+3490T>G http://identifiers.org/clinvar/83053 ^@ NM_000038.5(APC):c.834+3510A>G http://identifiers.org/clinvar/83054 ^@ NM_000038.5(APC):c.834+3625T>A http://identifiers.org/clinvar/83055 ^@ NM_000038.5(APC):c.834+3669A>G http://identifiers.org/clinvar/83056 ^@ NM_000038.5(APC):c.834+4073G>A http://identifiers.org/clinvar/83057 ^@ NM_000038.5(APC):c.834+4330C>A http://identifiers.org/clinvar/83058 ^@ NM_000038.5(APC):c.834+4667T>C http://identifiers.org/clinvar/83059 ^@ NM_000038.5(APC):c.834+4671A>C http://identifiers.org/clinvar/83060 ^@ NM_000038.5(APC):c.834+4674A>C http://identifiers.org/clinvar/83061 ^@ NM_000038.5(APC):c.834+4788G>C http://identifiers.org/clinvar/83062 ^@ NM_000038.5(APC):c.834+4789A>C http://identifiers.org/clinvar/83063 ^@ NM_000038.5(APC):c.834+4802T>C http://identifiers.org/clinvar/83064 ^@ NM_000038.5(APC):c.834+5281G>C http://identifiers.org/clinvar/83065 ^@ NM_000038.5(APC):c.834+5284T>C http://identifiers.org/clinvar/83066 ^@ NM_000038.5(APC):c.834+5293C>A http://identifiers.org/clinvar/83067 ^@ NM_000038.5(APC):c.834+5415G>T http://identifiers.org/clinvar/83068 ^@ NM_000038.5(APC):c.834+5754A>G http://identifiers.org/clinvar/83069 ^@ NM_000038.5(APC):c.834+5758A>G http://identifiers.org/clinvar/83070 ^@ NM_000038.5(APC):c.834+6943A>G http://identifiers.org/clinvar/83071 ^@ NM_000038.5(APC):c.835-6748A>T http://identifiers.org/clinvar/83072 ^@ NM_000038.5(APC):c.835-6609G>T http://identifiers.org/clinvar/83073 ^@ NM_000038.5(APC):c.835-6238T>C http://identifiers.org/clinvar/83074 ^@ NM_000038.5(APC):c.835-6094T>A http://identifiers.org/clinvar/83075 ^@ NM_000038.5(APC):c.835-5931C>A http://identifiers.org/clinvar/83076 ^@ NM_000038.5(APC):c.835-5500C>A http://identifiers.org/clinvar/83077 ^@ NM_000038.5(APC):c.835-5435A>G http://identifiers.org/clinvar/83078 ^@ NM_000038.5(APC):c.835-5434G>T http://identifiers.org/clinvar/83079 ^@ NM_000038.5(APC):c.835-5133G>T http://identifiers.org/clinvar/83080 ^@ NM_000038.5(APC):c.835-5075A>G http://identifiers.org/clinvar/83081 ^@ NM_000038.5(APC):c.835-4995T>G http://identifiers.org/clinvar/83082 ^@ NM_000038.5(APC):c.835-4672G>T http://identifiers.org/clinvar/83083 ^@ NM_000038.5(APC):c.835-4492C>A http://identifiers.org/clinvar/83084 ^@ NM_000038.5(APC):c.835-4336G>T http://identifiers.org/clinvar/83085 ^@ NM_000038.5(APC):c.835-4090G>T http://identifiers.org/clinvar/83086 ^@ NM_000038.5(APC):c.835-3245C>A http://identifiers.org/clinvar/83087 ^@ NM_000038.5(APC):c.835-1841G>C http://identifiers.org/clinvar/83088 ^@ NM_000038.5(APC):c.835-1818G>T http://identifiers.org/clinvar/83089 ^@ NM_000038.5(APC):c.835-1435T>C http://identifiers.org/clinvar/83090 ^@ NM_000038.5(APC):c.835-1318C>A http://identifiers.org/clinvar/83091 ^@ NM_000038.5(APC):c.835-1265A>G http://identifiers.org/clinvar/83092 ^@ NM_000038.5(APC):c.835-1223C>T http://identifiers.org/clinvar/83093 ^@ NM_000038.5(APC):c.835-998C>A http://identifiers.org/clinvar/83094 ^@ NM_000038.5(APC):c.835-989C>A http://identifiers.org/clinvar/83095 ^@ NM_000038.5(APC):c.835-963C>A http://identifiers.org/clinvar/83096 ^@ NM_000038.5(APC):c.835-731A>C http://identifiers.org/clinvar/83097 ^@ NM_000038.5(APC):c.835-730A>C http://identifiers.org/clinvar/83098 ^@ NM_000038.5(APC):c.835-728G>A http://identifiers.org/clinvar/83099 ^@ NM_000038.5(APC):c.835-727A>C http://identifiers.org/clinvar/83100 ^@ NM_000038.5(APC):c.933+544T>G http://identifiers.org/clinvar/83101 ^@ NM_000038.5(APC):c.933+934C>G http://identifiers.org/clinvar/83102 ^@ NM_000038.5(APC):c.933+937A>C http://identifiers.org/clinvar/83103 ^@ NM_000038.5(APC):c.933+942T>C http://identifiers.org/clinvar/83104 ^@ NM_000038.5(APC):c.933+943G>T http://identifiers.org/clinvar/83105 ^@ NM_000038.5(APC):c.933+1192C>A http://identifiers.org/clinvar/83106 ^@ NM_000038.5(APC):c.933+1200C>A http://identifiers.org/clinvar/83107 ^@ NM_000038.5(APC):c.933+1205G>A http://identifiers.org/clinvar/83108 ^@ NM_000038.5(APC):c.933+1206A>G http://identifiers.org/clinvar/83109 ^@ NM_000038.5(APC):c.933+1630C>T http://identifiers.org/clinvar/83110 ^@ NM_000038.5(APC):c.934-1544C>T http://identifiers.org/clinvar/83111 ^@ NM_000038.5(APC):c.934-1491C>A http://identifiers.org/clinvar/83112 ^@ NM_000038.5(APC):c.934-1168A>G http://identifiers.org/clinvar/83113 ^@ NM_000038.5(APC):c.934-998C>T http://identifiers.org/clinvar/83114 ^@ NM_000038.5(APC):c.934-960A>G http://identifiers.org/clinvar/83115 ^@ NM_000038.5(APC):c.934-906T>C http://identifiers.org/clinvar/83116 ^@ NM_000038.5(APC):c.934-802C>A http://identifiers.org/clinvar/83117 ^@ NM_000038.5(APC):c.934-775C>T http://identifiers.org/clinvar/83118 ^@ NM_000038.5(APC):c.934-667C>G http://identifiers.org/clinvar/83119 ^@ NM_000038.5(APC):c.934-509T>A http://identifiers.org/clinvar/83120 ^@ NM_000038.5(APC):c.934-508T>C http://identifiers.org/clinvar/83121 ^@ NM_000038.5(APC):c.934-360T>G http://identifiers.org/clinvar/83122 ^@ NM_000038.5(APC):c.934-132G>T http://identifiers.org/clinvar/83123 ^@ NM_000038.5(APC):c.934-119C>G http://identifiers.org/clinvar/83124 ^@ NM_000038.5(APC):c.1021C>A (p.Gln341Lys) http://identifiers.org/clinvar/83125 ^@ NM_000038.5(APC):c.1274A>G (p.Glu425Gly) http://identifiers.org/clinvar/83126 ^@ NM_000038.5(APC):c.1312+369C>A http://identifiers.org/clinvar/83127 ^@ NM_000038.5(APC):c.1312+463C>G http://identifiers.org/clinvar/83128 ^@ NM_000038.5(APC):c.1312+752G>C http://identifiers.org/clinvar/83129 ^@ NM_000038.5(APC):c.1312+1039T>G http://identifiers.org/clinvar/83130 ^@ NM_000038.5(APC):c.1312+1041C>T http://identifiers.org/clinvar/83131 ^@ NM_000038.5(APC):c.1312+1044G>T http://identifiers.org/clinvar/83132 ^@ NM_000038.5(APC):c.1312+1058C>G http://identifiers.org/clinvar/83133 ^@ NM_000038.5(APC):c.1313-892C>A http://identifiers.org/clinvar/83134 ^@ NM_000038.5(APC):c.1313-730G>C http://identifiers.org/clinvar/83135 ^@ NM_000038.5(APC):c.1408+295C>A http://identifiers.org/clinvar/83136 ^@ NM_000038.5(APC):c.1408+743G>A http://identifiers.org/clinvar/83137 ^@ NM_000038.5(APC):c.1408+806T>C http://identifiers.org/clinvar/83138 ^@ NM_000038.5(APC):c.1408+1672A>G http://identifiers.org/clinvar/83139 ^@ NM_000038.5(APC):c.1408+1697A>G http://identifiers.org/clinvar/83140 ^@ NM_000038.5(APC):c.1408+1782A>G http://identifiers.org/clinvar/83141 ^@ NM_000038.5(APC):c.1408+1857A>C http://identifiers.org/clinvar/83142 ^@ NM_000038.5(APC):c.1408+1874A>G http://identifiers.org/clinvar/83143 ^@ NM_000038.5(APC):c.1409-2531T>A http://identifiers.org/clinvar/83144 ^@ NM_000038.5(APC):c.1409-2360A>T http://identifiers.org/clinvar/83145 ^@ NM_000038.5(APC):c.1409-2358T>A http://identifiers.org/clinvar/83146 ^@ NM_000038.5(APC):c.1409-2343A>T http://identifiers.org/clinvar/83147 ^@ NM_000038.5(APC):c.1409-2342G>C http://identifiers.org/clinvar/83148 ^@ NM_000038.5(APC):c.1409-1869T>C http://identifiers.org/clinvar/83149 ^@ NM_000038.5(APC):c.1409-1860C>A http://identifiers.org/clinvar/83150 ^@ NM_000038.5(APC):c.1409-1848G>A http://identifiers.org/clinvar/83151 ^@ NM_000038.5(APC):c.1409-1847T>A http://identifiers.org/clinvar/83152 ^@ NM_000038.5(APC):c.1409-1336C>A http://identifiers.org/clinvar/83153 ^@ NM_000038.5(APC):c.1409-935T>G http://identifiers.org/clinvar/83154 ^@ NM_000038.5(APC):c.1409-934C>T http://identifiers.org/clinvar/83155 ^@ NM_000038.5(APC):c.1409-506C>A http://identifiers.org/clinvar/83156 ^@ NM_000038.5(APC):c.1409-422A>T http://identifiers.org/clinvar/83157 ^@ NM_000038.5(APC):c.1409-392A>G http://identifiers.org/clinvar/83158 ^@ NM_000038.5(APC):c.1515G>T (p.Leu505Phe) http://identifiers.org/clinvar/83159 ^@ NM_000038.5(APC):c.1548+298A>T http://identifiers.org/clinvar/83160 ^@ NM_000038.5(APC):c.1626+135T>C http://identifiers.org/clinvar/83161 ^@ NM_000038.5(APC):c.1626+290G>C http://identifiers.org/clinvar/83162 ^@ NM_000038.5(APC):c.1627-315C>T http://identifiers.org/clinvar/83163 ^@ NM_000038.5(APC):c.1743+193G>A http://identifiers.org/clinvar/83164 ^@ NM_000038.5(APC):c.1743+299T>G http://identifiers.org/clinvar/83165 ^@ NM_000038.5(APC):c.1743+344G>T http://identifiers.org/clinvar/83166 ^@ NM_000038.5(APC):c.1743+347G>T http://identifiers.org/clinvar/83167 ^@ NM_000038.5(APC):c.1743+349G>T http://identifiers.org/clinvar/83168 ^@ NM_000038.5(APC):c.1743+445C>A http://identifiers.org/clinvar/83169 ^@ NM_000038.5(APC):c.1743+972G>A http://identifiers.org/clinvar/83170 ^@ NM_000038.5(APC):c.1743+973A>G http://identifiers.org/clinvar/83171 ^@ NM_000038.5(APC):c.1743+1053T>C http://identifiers.org/clinvar/83172 ^@ NM_000038.5(APC):c.1743+1378T>A http://identifiers.org/clinvar/83173 ^@ NM_000038.5(APC):c.1743+1535T>A http://identifiers.org/clinvar/83174 ^@ NM_000038.5(APC):c.1743+1539C>A http://identifiers.org/clinvar/83175 ^@ NM_000038.5(APC):c.1743+1544A>C http://identifiers.org/clinvar/83176 ^@ NM_000038.5(APC):c.1743+1623C>A http://identifiers.org/clinvar/83177 ^@ NM_000038.5(APC):c.1743+1737A>G http://identifiers.org/clinvar/83178 ^@ NM_000038.5(APC):c.1743+1810A>G http://identifiers.org/clinvar/83179 ^@ NM_000038.5(APC):c.1743+2156G>T http://identifiers.org/clinvar/83180 ^@ NM_000038.5(APC):c.1743+2158G>T http://identifiers.org/clinvar/83181 ^@ NM_000038.5(APC):c.1743+2193G>A http://identifiers.org/clinvar/83182 ^@ NM_000038.5(APC):c.1743+2461T>G http://identifiers.org/clinvar/83183 ^@ NM_000038.5(APC):c.1743+2918T>C http://identifiers.org/clinvar/83184 ^@ NM_000038.5(APC):c.1744-2827C>T http://identifiers.org/clinvar/83185 ^@ NM_000038.5(APC):c.1744-2707C>G http://identifiers.org/clinvar/83186 ^@ NM_000038.5(APC):c.1744-2583A>G http://identifiers.org/clinvar/83187 ^@ NM_000038.5(APC):c.1744-2518G>C http://identifiers.org/clinvar/83188 ^@ NM_000038.5(APC):c.1744-2269T>C http://identifiers.org/clinvar/83189 ^@ NM_000038.5(APC):c.1744-2182G>A http://identifiers.org/clinvar/83190 ^@ NM_000038.5(APC):c.1744-2151T>A http://identifiers.org/clinvar/83191 ^@ NM_000038.5(APC):c.1744-2150T>A http://identifiers.org/clinvar/83192 ^@ NM_000038.5(APC):c.1744-2149T>C http://identifiers.org/clinvar/83193 ^@ NM_000038.5(APC):c.1744-1921T>G http://identifiers.org/clinvar/83194 ^@ NM_000038.5(APC):c.1744-1839C>A http://identifiers.org/clinvar/83195 ^@ NM_000038.5(APC):c.1744-1262G>T http://identifiers.org/clinvar/83196 ^@ NM_000038.5(APC):c.1744-1123T>A http://identifiers.org/clinvar/83197 ^@ NM_000038.5(APC):c.1744-1024A>G http://identifiers.org/clinvar/83198 ^@ NM_000038.5(APC):c.1744-758C>G http://identifiers.org/clinvar/83199 ^@ NM_000038.5(APC):c.1744-690A>T http://identifiers.org/clinvar/83200 ^@ NM_000038.5(APC):c.1744-577T>G http://identifiers.org/clinvar/83201 ^@ NM_000038.5(APC):c.1744-574G>A http://identifiers.org/clinvar/83202 ^@ NM_000038.5(APC):c.1744-569C>A http://identifiers.org/clinvar/83203 ^@ NM_000038.5(APC):c.1744-566G>C http://identifiers.org/clinvar/83204 ^@ NM_000038.5(APC):c.1744-564A>C http://identifiers.org/clinvar/83205 ^@ NM_000038.5(APC):c.1744-486G>T http://identifiers.org/clinvar/83206 ^@ NM_000038.5(APC):c.1744-485A>T http://identifiers.org/clinvar/83207 ^@ NM_000038.5(APC):c.1744-427T>G http://identifiers.org/clinvar/83208 ^@ NM_000038.5(APC):c.1744-363T>A http://identifiers.org/clinvar/83209 ^@ NM_000038.5(APC):c.1744-290G>A http://identifiers.org/clinvar/83210 ^@ NM_000038.5(APC):c.1744-213T>A http://identifiers.org/clinvar/83211 ^@ NM_000038.5(APC):c.1744-212G>T http://identifiers.org/clinvar/83212 ^@ NM_000038.5(APC):c.1912A>G (p.Ile638Val) http://identifiers.org/clinvar/83213 ^@ NM_000038.5(APC):c.1958+235A>G http://identifiers.org/clinvar/83214 ^@ NM_000038.5(APC):c.1958+378C>A http://identifiers.org/clinvar/83215 ^@ NM_000038.5(APC):c.1958+388C>T http://identifiers.org/clinvar/83216 ^@ NM_000038.5(APC):c.1958+392G>T http://identifiers.org/clinvar/83217 ^@ NM_000038.5(APC):c.1958+689T>G http://identifiers.org/clinvar/83218 ^@ NM_000038.5(APC):c.1958+707C>A http://identifiers.org/clinvar/83219 ^@ NM_000038.5(APC):c.1958+729C>A http://identifiers.org/clinvar/83220 ^@ NM_000038.5(APC):c.1958+730T>A http://identifiers.org/clinvar/83221 ^@ NM_000038.5(APC):c.1958+826C>A http://identifiers.org/clinvar/83222 ^@ NM_000038.5(APC):c.1958+829C>A http://identifiers.org/clinvar/83223 ^@ NM_000038.5(APC):c.1958+860T>C http://identifiers.org/clinvar/83224 ^@ NM_000038.5(APC):c.1958+861T>C http://identifiers.org/clinvar/83225 ^@ NM_000038.5(APC):c.1958+1015G>A http://identifiers.org/clinvar/83226 ^@ NM_000038.5(APC):c.1959-1031G>A http://identifiers.org/clinvar/83227 ^@ NM_000038.5(APC):c.1959-571T>G http://identifiers.org/clinvar/83228 ^@ NM_000038.5(APC):c.1959-464G>T http://identifiers.org/clinvar/83229 ^@ NM_000038.5(APC):c.1959-320T>C http://identifiers.org/clinvar/83230 ^@ NM_000038.5(APC):c.1959-145T>A http://identifiers.org/clinvar/83231 ^@ NM_000038.5(APC):c.1959-144T>A http://identifiers.org/clinvar/83232 ^@ NM_000038.5(APC):c.1959-139C>A http://identifiers.org/clinvar/83233 ^@ NM_000038.5(APC):c.1959-138A>G http://identifiers.org/clinvar/83234 ^@ NM_000038.5(APC):c.2385C>T (p.Leu795=) http://identifiers.org/clinvar/83235 ^@ NM_000038.5(APC):c.2386T>G (p.Tyr796Asp) http://identifiers.org/clinvar/83236 ^@ NM_000038.5(APC):c.2404G>T (p.Asp802Tyr) http://identifiers.org/clinvar/83237 ^@ NM_000038.5(APC):c.2509T>G (p.Ser837Ala) http://identifiers.org/clinvar/83238 ^@ NM_000038.5(APC):c.2510C>A (p.Ser837Ter) http://identifiers.org/clinvar/83239 ^@ NM_000038.5(APC):c.2511A>G (p.Ser837=) http://identifiers.org/clinvar/83240 ^@ NM_000038.5(APC):c.2920G>T (p.Gly974Cys) http://identifiers.org/clinvar/83241 ^@ NM_000038.5(APC):c.3730C>A (p.Gln1244Lys) http://identifiers.org/clinvar/83242 ^@ NM_000038.5(APC):c.3766C>A (p.Gln1256Lys) http://identifiers.org/clinvar/83243 ^@ NM_000038.5(APC):c.5374A>C (p.Asn1792His) http://identifiers.org/clinvar/83244 ^@ NM_000038.5(APC):c.5376T>A (p.Asn1792Lys) http://identifiers.org/clinvar/83245 ^@ NM_000038.5(APC):c.5515G>T (p.Ala1839Ser) http://identifiers.org/clinvar/83246 ^@ NM_000038.5(APC):c.5521G>T (p.Asp1841Tyr) http://identifiers.org/clinvar/83247 ^@ NM_000038.5(APC):c.7049C>T (p.Ser2350Phe) http://identifiers.org/clinvar/83248 ^@ NM_000038.5(APC):c.7050C>A (p.Ser2350=) http://identifiers.org/clinvar/83249 ^@ NM_000038.5(APC):c.7973G>T (p.Trp2658Leu) http://identifiers.org/clinvar/83250 ^@ NM_000038.5(APC):c.8130T>G (p.Ser2710Arg) http://identifiers.org/clinvar/83251 ^@ NM_000038.5(APC):c.8134C>T (p.Pro2712Ser) http://identifiers.org/clinvar/83252 ^@ NM_000038.5(APC):c.*86C>A http://identifiers.org/clinvar/83253 ^@ NM_000038.5(APC):c.*134C>A http://identifiers.org/clinvar/83254 ^@ NM_000038.5(APC):c.*135T>G http://identifiers.org/clinvar/83255 ^@ NM_000038.5(APC):c.*137G>A http://identifiers.org/clinvar/83256 ^@ NM_000038.5(APC):c.*405C>A http://identifiers.org/clinvar/83257 ^@ NM_000038.5(APC):c.*434C>T http://identifiers.org/clinvar/83258 ^@ NM_000038.5(APC):c.*467A>G http://identifiers.org/clinvar/83259 ^@ NM_000038.5(APC):c.*805C>A http://identifiers.org/clinvar/83260 ^@ NM_000038.5(APC):c.*1098T>C http://identifiers.org/clinvar/83261 ^@ NM_000038.5(APC):c.*1460C>T http://identifiers.org/clinvar/83262 ^@ NM_000038.5(APC):c.*1556C>G http://identifiers.org/clinvar/83263 ^@ NM_000038.5(APC):c.*1753G>A http://identifiers.org/clinvar/83264 ^@ NM_000038.5(APC):c.*2292A>T http://identifiers.org/clinvar/83265 ^@ NM_000038.5(APC):c.*2293A>T http://identifiers.org/clinvar/83266 ^@ NM_000038.5(APC):c.*2294C>G http://identifiers.org/clinvar/83267 ^@ NM_000038.5(APC):c.*2296T>G http://identifiers.org/clinvar/83268 ^@ NM_000038.5(APC):c.*2409A>T http://identifiers.org/clinvar/83269 ^@ NM_000038.5(APC):c.*2542T>G http://identifiers.org/clinvar/83270 ^@ NM_000038.5(APC):c.*2543T>G http://identifiers.org/clinvar/83271 ^@ NM_000038.5(APC):c.*2546G>A http://identifiers.org/clinvar/83272 ^@ NM_000038.5(APC):c.*2556G>A http://identifiers.org/clinvar/83273 ^@ NM_000038.5(APC):c.*2590A>G http://identifiers.org/clinvar/83274 ^@ NC_000005.10:g.112846779C>A http://identifiers.org/clinvar/83275 ^@ NC_000005.10:g.112846994A>G http://identifiers.org/clinvar/83276 ^@ NC_000005.10:g.112847460A>G http://identifiers.org/clinvar/83277 ^@ NC_000005.10:g.112847796G>T http://identifiers.org/clinvar/83278 ^@ NC_000005.10:g.112847814T>C http://identifiers.org/clinvar/83279 ^@ NC_000005.10:g.112848450G>T http://identifiers.org/clinvar/83280 ^@ NC_000005.10:g.112848559A>C http://identifiers.org/clinvar/83281 ^@ NC_000005.10:g.112848647C>T http://identifiers.org/clinvar/83282 ^@ NC_000005.10:g.112848715G>A http://identifiers.org/clinvar/83283 ^@ NC_000005.10:g.112848716A>G http://identifiers.org/clinvar/83284 ^@ NC_000005.10:g.112848793T>C http://identifiers.org/clinvar/83285 ^@ NC_000005.10:g.112849089C>G http://identifiers.org/clinvar/83286 ^@ NC_000005.10:g.112849374A>T http://identifiers.org/clinvar/83287 ^@ NC_000005.10:g.112849375T>A http://identifiers.org/clinvar/83288 ^@ NC_000005.10:g.112849376T>A http://identifiers.org/clinvar/83289 ^@ NC_000005.10:g.112849377A>T http://identifiers.org/clinvar/83290 ^@ NC_000005.10:g.112849397G>A http://identifiers.org/clinvar/83291 ^@ NC_000005.10:g.112849398A>G http://identifiers.org/clinvar/83292 ^@ NC_000005.10:g.112849696A>C http://identifiers.org/clinvar/83293 ^@ NC_000005.10:g.112849707G>T http://identifiers.org/clinvar/83294 ^@ NC_000005.10:g.112849722C>A http://identifiers.org/clinvar/83295 ^@ NC_000005.10:g.112849729C>A http://identifiers.org/clinvar/83296 ^@ NC_000005.10:g.112849754A>G http://identifiers.org/clinvar/83297 ^@ NC_000005.10:g.112849794A>G http://identifiers.org/clinvar/83298 ^@ NC_000005.10:g.112849816A>C http://identifiers.org/clinvar/83299 ^@ NC_000005.10:g.112849895G>T http://identifiers.org/clinvar/83300 ^@ NC_000005.10:g.112850367C>A http://identifiers.org/clinvar/83301 ^@ NC_000005.10:g.112850623A>C http://identifiers.org/clinvar/83302 ^@ NC_000005.10:g.112850624C>A http://identifiers.org/clinvar/83303 ^@ NM_001130067.1(TRIM2):c.680A>T (p.Glu227Val) http://identifiers.org/clinvar/83304 ^@ NM_001130067.1(TRIM2):c.1700delA (p.Lys567Argfs) http://identifiers.org/clinvar/88624 ^@ NM_000038.5(APC):c.135+2703G>C http://identifiers.org/clinvar/88625 ^@ NM_000038.5(APC):c.135+3233A>G http://identifiers.org/clinvar/88635 ^@ NM_004181.4(UCHL1):c.20A>C (p.Glu7Ala) http://identifiers.org/clinvar/88636 ^@ NM_006565.3(CTCF):c.375dupT (p.Val126Cysfs) http://identifiers.org/clinvar/88637 ^@ NM_006565.3(CTCF):c.1186dupA (p.Arg396Lysfs) http://identifiers.org/clinvar/88638 ^@ NM_006565.3(CTCF):c.1699C>T (p.Arg567Trp) http://identifiers.org/clinvar/88639 ^@ NM_000041.3(APOE):c.364C>A (p.Leu122Met) http://identifiers.org/clinvar/88640 ^@ NM_000041.3(APOE):c.451C>A (p.Leu151Met) http://identifiers.org/clinvar/88644 ^@ NM_018051.4(WDR60):c.1891C>T (p.Gln631Ter) http://identifiers.org/clinvar/88645 ^@ NM_018051.4(WDR60):c.2246C>T (p.Thr749Met) http://identifiers.org/clinvar/88646 ^@ NM_018051.4(WDR60):c.1703-3T>A http://identifiers.org/clinvar/88647 ^@ NM_000216.3(ANOS1):c.1449+2delT http://identifiers.org/clinvar/88648 ^@ NM_020987.4(ANK3):c.10995delC (p.Thr3666Leufs) http://identifiers.org/clinvar/88649 ^@ NM_020987.4(ANK3):c.4705T>G (p.Ser1569Ala) http://identifiers.org/clinvar/88650 ^@ NM_016204.3(GDF2):c.254C>T (p.Pro85Leu) http://identifiers.org/clinvar/88651 ^@ NM_016204.3(GDF2):c.203G>T (p.Arg68Leu) http://identifiers.org/clinvar/88652 ^@ NM_016204.3(GDF2):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/88653 ^@ NM_001031725.5(DDX59):c.1100T>G (p.Val367Gly) http://identifiers.org/clinvar/88654 ^@ NM_001031725.5(DDX59):c.1600G>A (p.Gly534Arg) http://identifiers.org/clinvar/88655 ^@ NM_001942.3(DSG1):c.1079dupC (p.Ile361Asnfs) http://identifiers.org/clinvar/88656 ^@ NM_001942.3(DSG1):c.1627delA (p.Asn543Metfs) http://identifiers.org/clinvar/88657 ^@ NM_001942.3(DSG1):c.76C>T (p.Arg26Ter) http://identifiers.org/clinvar/88658 ^@ NM_001942.3(DSG1):c.121dupT (p.Trp41Leufs) http://identifiers.org/clinvar/88659 ^@ NM_001942.3(DSG1):c.601C>T (p.Gln201Ter) http://identifiers.org/clinvar/88660 ^@ NM_001942.3(DSG1):c.430A>T (p.Arg144Ter) http://identifiers.org/clinvar/88661 ^@ NM_001942.3(DSG1):c.49-1G>A http://identifiers.org/clinvar/88662 ^@ NM_001942.3(DSG1):c.1861delG (p.Ala621Glnfs) http://identifiers.org/clinvar/88673 ^@ NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) http://identifiers.org/clinvar/88674 ^@ NM_020806.4(GPHN):c.1838A>C (p.Asp613Ala) http://identifiers.org/clinvar/88675 ^@ NM_005026.3(PIK3CD):c.3061G>A (p.Glu1021Lys) http://identifiers.org/clinvar/88680 ^@ NM_172218.2(SPAG1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/88681 ^@ NC_000008.11:g.100151617_100163589del11973 http://identifiers.org/clinvar/88682 ^@ NM_172218.2(SPAG1):c.679G>T (p.Glu227Ter) http://identifiers.org/clinvar/88683 ^@ NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter) http://identifiers.org/clinvar/88684 ^@ NM_172218.2(SPAG1):c.2542delG (p.Asp848Ilefs) http://identifiers.org/clinvar/88685 ^@ NM_033124.4(CCDC65):c.877_878delAT (p.Ile293Profs) http://identifiers.org/clinvar/88686 ^@ NM_052867.2(NALCN):c.1489delT (p.Tyr497Thrfs) http://identifiers.org/clinvar/88687 ^@ NM_052867.2(NALCN):c.3860G>T (p.Trp1287Leu) http://identifiers.org/clinvar/88689 ^@ NM_021254.2(C21orf59):c.292C>T (p.Arg98Ter) http://identifiers.org/clinvar/88690 ^@ NM_021254.2(C21orf59):c.792_795delTTTA (p.Tyr264Terfs) http://identifiers.org/clinvar/88691 ^@ NM_013335.3(GMPPA):c.295C>T (p.Arg99Ter) http://identifiers.org/clinvar/88692 ^@ NM_013335.3(GMPPA):c.1000A>C (p.Thr334Pro) http://identifiers.org/clinvar/88693 ^@ NM_013335.3(GMPPA):c.545G>A (p.Gly182Asp) http://identifiers.org/clinvar/88694 ^@ NM_013335.3(GMPPA):c.210delA (p.Ala71Profs) http://identifiers.org/clinvar/88695 ^@ GMPPA, TRP214TER http://identifiers.org/clinvar/88700 ^@ NM_005032.6(PLS3):c.235delT (p.Tyr79Ilefs) http://identifiers.org/clinvar/88701 ^@ NM_005032.6(PLS3):c.1471C>T (p.Gln491Ter) http://identifiers.org/clinvar/88702 ^@ NM_005032.6(PLS3):c.321T>A (p.Gly107=) http://identifiers.org/clinvar/88705 ^@ NM_015295.2(SMCHD1):c.1580C>T (p.Thr527Met) http://identifiers.org/clinvar/88726 ^@ NM_000165.4(GJA1):c.617A>G (p.Lys206Arg) http://identifiers.org/clinvar/88727 ^@ NM_000833.4(GRIN2A):c.1007+1G>A http://identifiers.org/clinvar/88728 ^@ NM_000833.4(GRIN2A):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/88729 ^@ NM_000833.4(GRIN2A):c.2829C>G (p.Tyr943Ter) http://identifiers.org/clinvar/88730 ^@ NM_000833.4(GRIN2A):c.1592C>T (p.Thr531Met) http://identifiers.org/clinvar/88731 ^@ NM_000833.4(GRIN2A):c.1123-2A>G http://identifiers.org/clinvar/88732 ^@ NM_000833.4(GRIN2A):c.1553G>A (p.Arg518His) http://identifiers.org/clinvar/88733 ^@ NM_000833.4(GRIN2A):c.1954T>G (p.Phe652Val) http://identifiers.org/clinvar/88734 ^@ NM_000833.4(GRIN2A):c.2041C>T (p.Arg681Ter) http://identifiers.org/clinvar/88735 ^@ NM_032946.2(NXF5):c.337C>T (p.Arg113Trp) http://identifiers.org/clinvar/88736 ^@ NM_018466.5(ALG13):c.421_422delACinsTT (p.Thr141Leu) http://identifiers.org/clinvar/88737 ^@ NM_005148.3(UNC119):c.65G>T (p.Gly22Val) http://identifiers.org/clinvar/88738 ^@ NM_004667.5(HERC2):c.1781C>T (p.Pro594Leu) http://identifiers.org/clinvar/88739 ^@ NM_019026.4(TMCO1):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/88740 ^@ NC_000007.14:g.62535490A>G http://identifiers.org/clinvar/88744 ^@ NM_145064.2(STAC3):c.851G>C (p.Trp284Ser) http://identifiers.org/clinvar/88750 ^@ NM_006208.2(ENPP1):c.530G>A (p.Cys177Tyr) http://identifiers.org/clinvar/88751 ^@ NM_006208.2(ENPP1):c.491G>C (p.Cys164Ser) http://identifiers.org/clinvar/88752 ^@ NM_006208.2(ENPP1):c.446G>C (p.Cys149Ser) http://identifiers.org/clinvar/88753 ^@ NM_001008537.2(KIAA2022):c.3597dupA (p.Ser1200Ilefs) http://identifiers.org/clinvar/88754 ^@ KIAA2022, 70-KB DUP http://identifiers.org/clinvar/88755 ^@ NM_001008537.2(KIAA2022):c.183delC (p.Arg62Glufs) http://identifiers.org/clinvar/88756 ^@ NM_005765.2(ATP6AP2):c.345C>T (p.Ser115=) http://identifiers.org/clinvar/88757 ^@ NM_152336.3(AGBL1):c.3220C>T (p.Arg1074Ter) http://identifiers.org/clinvar/88758 ^@ NM_152336.3(AGBL1):c.3107G>C (p.Cys1036Ser) http://identifiers.org/clinvar/88760 ^@ NM_000965.4(RARB):c.355C>T (p.Arg119Ter) http://identifiers.org/clinvar/88761 ^@ NM_000965.4(RARB):c.1205_1206dupTC (p.Ile403Serfs) http://identifiers.org/clinvar/88762 ^@ NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) http://identifiers.org/clinvar/88763 ^@ NM_000965.4(RARB):c.1159C>A (p.Arg387Ser) http://identifiers.org/clinvar/88764 ^@ NM_001142617.1(STRA6):c.1521-1G>A http://identifiers.org/clinvar/88767 ^@ NM_004595.4(SMS):c.983A>G (p.Tyr328Cys) http://identifiers.org/clinvar/88768 ^@ NM_147686.3(TRAF3IP2):c.1580C>T (p.Thr527Ile) http://identifiers.org/clinvar/88770 ^@ NM_001127605.2(LIPA):c.260G>T (p.Gly87Val) http://identifiers.org/clinvar/88775 ^@ NM_001089.2(ABCA3):c.2003G>A (p.Gly668Asp) http://identifiers.org/clinvar/88776 ^@ NM_001089.2(ABCA3):c.2467G>C (p.Ala823Pro) http://identifiers.org/clinvar/88777 ^@ NM_001089.2(ABCA3):c.4322T>C (p.Phe1441Ser) http://identifiers.org/clinvar/88778 ^@ NM_001089.2(ABCA3):c.4822G>T (p.Gly1608Cys) http://identifiers.org/clinvar/88779 ^@ NM_001089.2(ABCA3):c.613G>A (p.Gly205Arg) http://identifiers.org/clinvar/88836 ^@ NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs) http://identifiers.org/clinvar/88837 ^@ NM_000431.3(MVK):c.421dupG (p.Ala141Glyfs) http://identifiers.org/clinvar/88838 ^@ NM_002052.4(GATA4):c.661G>A (p.Gly221Arg) http://identifiers.org/clinvar/88839 ^@ NM_001110.3(ADAM10):c.415C>T (p.Pro139Ser) http://identifiers.org/clinvar/88840 ^@ NM_001110.3(ADAM10):c.1511G>A (p.Ser504Asn) http://identifiers.org/clinvar/88841 ^@ NM_001110.3(ADAM10):c.429T>A (p.Tyr143Ter) http://identifiers.org/clinvar/88842 ^@ NM_001110.3(ADAM10):c.1264delA (p.Thr422Hisfs) http://identifiers.org/clinvar/88843 ^@ NM_001110.3(ADAM10):c.1571G>A (p.Cys524Tyr) http://identifiers.org/clinvar/88844 ^@ NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln) http://identifiers.org/clinvar/88845 ^@ NM_006735.3(HOXA2):c.703C>T (p.Gln235Ter) http://identifiers.org/clinvar/88846 ^@ NM_021926.3(ALX4):c.19G>T (p.Val7Phe) http://identifiers.org/clinvar/88847 ^@ NM_021926.3(ALX4):c.631A>G (p.Lys211Glu) http://identifiers.org/clinvar/88848 ^@ NM_001080976.2(DSE):c.803C>T (p.Ser268Leu) http://identifiers.org/clinvar/88849 ^@ NM_005781.4(TNK2):c.1912G>A (p.Val638Met) http://identifiers.org/clinvar/88850 ^@ NM_052813.4(CARD9):c.214G>A (p.Gly72Ser) http://identifiers.org/clinvar/88851 ^@ NM_052813.4(CARD9):c.1118G>C (p.Arg373Pro) http://identifiers.org/clinvar/88852 ^@ NM_052813.4(CARD9):c.865C>T (p.Gln289Ter) http://identifiers.org/clinvar/88853 ^@ NM_052813.4(CARD9):c.301C>T (p.Arg101Cys) http://identifiers.org/clinvar/88854 ^@ NM_001256864.1(DNAJC6):c.801-2A>G http://identifiers.org/clinvar/88855 ^@ NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter) http://identifiers.org/clinvar/88856 ^@ NM_205768.2(ZBTB18):c.397G>T (p.Glu133Ter) http://identifiers.org/clinvar/88857 ^@ NM_018668.3(VPS33B):c.240-577_290-156del http://identifiers.org/clinvar/88858 ^@ NM_018668.4(VPS33B):c.1225+5G>C http://identifiers.org/clinvar/88859 ^@ NM_018668.4(VPS33B):c.1261_1262delCA (p.Gln421Valfs) http://identifiers.org/clinvar/88860 ^@ NM_032229.2(SLITRK6):c.1240C>T (p.Gln414Ter) http://identifiers.org/clinvar/88861 ^@ NM_032229.2(SLITRK6):c.890C>A (p.Ser297Ter) http://identifiers.org/clinvar/88862 ^@ NM_032229.2(SLITRK6):c.541C>T (p.Arg181Ter) http://identifiers.org/clinvar/88863 ^@ NM_001010892.2(RSPH4A):c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) http://identifiers.org/clinvar/88864 ^@ NM_152269.4(C12orf65):c.415C>T (p.Gln139Ter) http://identifiers.org/clinvar/88865 ^@ NM_001031726.3(C19orf12):c.187G>C (p.Ala63Pro) http://identifiers.org/clinvar/88866 ^@ NM_001256047.1(C19orf12):c.164_166delGGG (p.Gly55del) http://identifiers.org/clinvar/88867 ^@ NM_025115.3(TTI2):c.1100C>T (p.Pro367Leu) http://identifiers.org/clinvar/88868 ^@ NM_025115.3(TTI2):c.1307T>A (p.Ile436Asn) http://identifiers.org/clinvar/88869 ^@ NM_001278532.1(ERMARD):c.752T>A (p.Ile251Asn) http://identifiers.org/clinvar/88870 ^@ NM_001039876.2(SYNE4):c.228_229delAT (p.Trp77Valfs) http://identifiers.org/clinvar/88891 ^@ NM_004188.6(GFI1B):c.880dupC (p.His294Profs) http://identifiers.org/clinvar/88892 ^@ NM_001280547.1(PAX5):c.547G>A (p.Gly183Ser) http://identifiers.org/clinvar/88893 ^@ NM_003073.4(SMARCB1):c.110G>A (p.Arg37His) http://identifiers.org/clinvar/88894 ^@ NM_001077482.2(NR1I3):c.740T>C (p.Phe247Ser) http://identifiers.org/clinvar/88895 ^@ NM_170606.2(KMT2C):c.4441C>T (p.Arg1481Ter) http://identifiers.org/clinvar/88896 ^@ NM_018328.4(MBD5):c.150delT (p.Thr52Hisfs) http://identifiers.org/clinvar/88897 ^@ NM_178012.4(TUBB2B):c.1261G>A (p.Glu421Lys) http://identifiers.org/clinvar/88913 ^@ NM_000038.5(APC):c.3183_3187delACAAA (p.Gln1062Terfs) http://identifiers.org/clinvar/88914 ^@ NM_000038.5(APC):c.3202_3205delTCAA (p.Ser1068Glyfs) http://identifiers.org/clinvar/88922 ^@ NM_000311.4(PRNP):c.633G>C (p.Glu211Asp) http://identifiers.org/clinvar/88923 ^@ NM_000311.4(PRNP):c.631G>C (p.Glu211Gln) http://identifiers.org/clinvar/88926 ^@ NM_000311.4(PRNP):c.678C>A (p.Tyr226Ter) http://identifiers.org/clinvar/88927 ^@ NM_000311.4(PRNP):c.679C>T (p.Gln227Ter) http://identifiers.org/clinvar/88928 ^@ PRNP, TYR163TER http://identifiers.org/clinvar/88946 ^@ NM_000410.3(HFE):c.502G>T (p.Glu168Ter) http://identifiers.org/clinvar/88953 ^@ NM_002474.2(MYH11):c.3791T>C (p.Leu1264Pro) http://identifiers.org/clinvar/88958 ^@ NM_000053.3(ATP7B):c.3402delC (p.Ala1135Glnfs) http://identifiers.org/clinvar/88974 ^@ NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) http://identifiers.org/clinvar/88975 ^@ NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) http://identifiers.org/clinvar/88976 ^@ RPS17, 2.9-KB DEL http://identifiers.org/clinvar/88977 ^@ NM_007055.3(POLR3A):c.-6128_-995del http://identifiers.org/clinvar/88978 ^@ NC_000019.8:g.47056452_47061521del5070 http://identifiers.org/clinvar/88979 ^@ NC_000012.12:g.56031044_56051500del20457 http://identifiers.org/clinvar/88980 ^@ NM_020345.3(NKIRAS1):c.-4414_-2022del http://identifiers.org/clinvar/88981 ^@ NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) http://identifiers.org/clinvar/88996 ^@ NM_000949.6(PRLR):c.508A>C (p.Ile170Leu) http://identifiers.org/clinvar/88997 ^@ NM_003737.3(DCHS1):c.2503G>T (p.Gly835Ter) http://identifiers.org/clinvar/88998 ^@ NM_003737.3(DCHS1):c.2543delC (p.Thr848Asnfs) http://identifiers.org/clinvar/88999 ^@ NM_003737.3(DCHS1):c.7109A>T (p.Asn2370Ile) http://identifiers.org/clinvar/89000 ^@ NM_019066.4(MAGEL2):c.1652delT (p.Val551Aspfs) http://identifiers.org/clinvar/89001 ^@ NM_019066.4(MAGEL2):c.1802delC (p.Pro601Glnfs) http://identifiers.org/clinvar/89002 ^@ NM_019066.4(MAGEL2):c.3181_3182delAT (p.Ile1061Hisfs) http://identifiers.org/clinvar/89003 ^@ NM_019066.4(MAGEL2):c.3124C>T (p.Gln1042Ter) http://identifiers.org/clinvar/89004 ^@ NM_024582.4(FAT4):c.12476G>T (p.Cys4159Phe) http://identifiers.org/clinvar/89005 ^@ NM_024582.4(FAT4):c.13193G>A (p.Cys4398Tyr) http://identifiers.org/clinvar/89006 ^@ NM_024582.4(FAT4):c.7123G>A (p.Glu2375Lys) http://identifiers.org/clinvar/89007 ^@ NM_024582.4(FAT4):c.9481G>T (p.Glu3161Ter) http://identifiers.org/clinvar/89008 ^@ NM_024582.4(FAT4):c.14512_14513delTC (p.Ser4838Leufs) http://identifiers.org/clinvar/89009 ^@ NM_024582.4(FAT4):c.11455C>T (p.Arg3819Ter) http://identifiers.org/clinvar/89011 ^@ NM_014139.2(SCN11A):c.2432T>C (p.Leu811Pro) http://identifiers.org/clinvar/89013 ^@ NM_014139.2(SCN11A):c.2423C>G (p.Ala808Gly) http://identifiers.org/clinvar/89014 ^@ NM_006514.3(SCN10A):c.1661T>C (p.Leu554Pro) http://identifiers.org/clinvar/89015 ^@ NM_006514.3(SCN10A):c.3910G>A (p.Ala1304Thr) http://identifiers.org/clinvar/89026 ^@ NM_001257096.1(PAX1):c.497G>T (p.Gly166Val) http://identifiers.org/clinvar/89027 ^@ NM_001204316.1(PRLR):c.635A>G (p.His212Arg) http://identifiers.org/clinvar/89028 ^@ NM_006420.2(ARFGEF2):c.1958+1G>A http://identifiers.org/clinvar/89029 ^@ NM_001271684.1(SLC35A3):c.514C>T (p.Gln172Ter) http://identifiers.org/clinvar/89030 ^@ NM_012243.2(SLC35A3):c.886A>G (p.Ser296Gly) http://identifiers.org/clinvar/89031 ^@ NM_016495.5(TBC1D7):c.538delT (p.Tyr180Thrfs) http://identifiers.org/clinvar/89037 ^@ NM_133645.2(MTO1):c.1505G>A (p.Arg502His) http://identifiers.org/clinvar/89038 ^@ NM_133645.2(MTO1):c.1307C>T (p.Thr436Ile) http://identifiers.org/clinvar/89039 ^@ NM_000059.3(BRCA2):c.10087A>G (p.Ile3363Val) http://identifiers.org/clinvar/89040 ^@ NM_000059.3(BRCA2):c.1096T>G (p.Leu366Val) http://identifiers.org/clinvar/89042 ^@ NM_000059.3(BRCA2):c.1817_1819delCGAinsTTT (p.Pro606_Lys607delinsLeuTer) http://identifiers.org/clinvar/89044 ^@ NM_000059.3(BRCA2):c.2332G>A (p.Val778Ile) http://identifiers.org/clinvar/89046 ^@ NM_000059.3(BRCA2):c.3075_3076delGAinsTT (p.Lys1025_Lys1026delinsAsnTer) http://identifiers.org/clinvar/89047 ^@ NM_000059.3(BRCA2):c.4178C>T (p.Ala1393Val) http://identifiers.org/clinvar/89048 ^@ NM_000059.3(BRCA2):c.5195delT (p.Leu1732Profs) http://identifiers.org/clinvar/89049 ^@ NM_000059.3(BRCA2):c.5364dupC (p.Lys1789Glnfs) http://identifiers.org/clinvar/89052 ^@ NM_000059.3(BRCA2):c.6688A>G (p.Ile2230Val) http://identifiers.org/clinvar/89053 ^@ NM_000059.3(BRCA2):c.6937+594T>G http://identifiers.org/clinvar/89054 ^@ NM_000059.3(BRCA2):c.9286G>A (p.Glu3096Lys) http://identifiers.org/clinvar/89055 ^@ NM_007294.3(BRCA1):c.135-?_441+?del http://identifiers.org/clinvar/89056 ^@ NM_007294.3(BRCA1):c.2518A>T (p.Ser840Cys) http://identifiers.org/clinvar/89057 ^@ NM_007294.3(BRCA1):c.302-?_441+?(2) http://identifiers.org/clinvar/89058 ^@ NM_007294.3(BRCA1):c.339C>G (p.Asn113Lys) http://identifiers.org/clinvar/89059 ^@ NM_007294.3(BRCA1):c.3555G>T (p.Glu1185Asp) http://identifiers.org/clinvar/89060 ^@ NM_007294.3(BRCA1):c.3619A>G (p.Lys1207Glu) http://identifiers.org/clinvar/89061 ^@ NM_007294.3(BRCA1):c.4186-?_4675+?del http://identifiers.org/clinvar/89062 ^@ NM_007294.3(BRCA1):c.4186-?_4986+?del http://identifiers.org/clinvar/89063 ^@ NM_007294.3(BRCA1):c.4358-?_5277+?del http://identifiers.org/clinvar/89064 ^@ NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp) http://identifiers.org/clinvar/89065 ^@ NM_007294.3(BRCA1):c.442-?_547+?(2) http://identifiers.org/clinvar/89066 ^@ NM_007294.3(BRCA1):c.4485-?_4986+?del http://identifiers.org/clinvar/89067 ^@ NM_007294.3(BRCA1):c.4987-?_5074+?del http://identifiers.org/clinvar/89068 ^@ NM_007294.3(BRCA1):c.?-232_4484+?del http://identifiers.org/clinvar/89069 ^@ NM_007294.3(BRCA1):c.548-?_5193+?del http://identifiers.org/clinvar/89070 ^@ NM_001190467.1(PRR36):c.2295G>A (p.Pro765=) http://identifiers.org/clinvar/89071 ^@ NM_174894.2(TRAPPC5):c.548G>C (p.Arg183Pro) http://identifiers.org/clinvar/89076 ^@ NM_006254.3(PRKCD):c.1352+1G>A http://identifiers.org/clinvar/89086 ^@ NM_000391.3(TPP1):c.1397T>G (p.Val466Gly) http://identifiers.org/clinvar/89149 ^@ NM_000179.2(MSH6):c.(?_-152)_(*93_?)del http://identifiers.org/clinvar/89150 ^@ NM_000179.2(MSH6):c.(?_-152)_457+?del http://identifiers.org/clinvar/89151 ^@ NM_000179.2(MSH6):c.*24_*28delGTTGA http://identifiers.org/clinvar/89152 ^@ NM_000179.2(MSH6):c.*4247G>A http://identifiers.org/clinvar/89153 ^@ NM_000179.2(MSH6):c.*5045T>C http://identifiers.org/clinvar/89154 ^@ NM_000179.2(MSH6):c.*77_*78dupTT http://identifiers.org/clinvar/89155 ^@ NM_000179.2(MSH6):c.*85T>A http://identifiers.org/clinvar/89156 ^@ NM_000179.2(MSH6):c.-11863_457+1921del http://identifiers.org/clinvar/89157 ^@ NM_000179.2(MSH6):c.-13022_-1711del http://identifiers.org/clinvar/89158 ^@ NM_000179.2(MSH6):c.-159C>T http://identifiers.org/clinvar/89159 ^@ NM_000179.2(MSH6):c.-18G>T http://identifiers.org/clinvar/89160 ^@ NM_000179.2(MSH6):c.-210C>T http://identifiers.org/clinvar/89161 ^@ NM_000179.2(MSH6):c.-3097_457+2010del http://identifiers.org/clinvar/89162 ^@ NM_000179.2(MSH6):c.-448G>A http://identifiers.org/clinvar/89163 ^@ NM_000179.2(MSH6):c.-557T>G http://identifiers.org/clinvar/89164 ^@ NM_000179.2(MSH6):c.-8C>T http://identifiers.org/clinvar/89165 ^@ NM_000179.2(MSH6):c.1019T>C (p.Phe340Ser) http://identifiers.org/clinvar/89166 ^@ NM_000179.2(MSH6):c.1044C>A (p.Ser348=) http://identifiers.org/clinvar/89167 ^@ NM_000179.2(MSH6):c.1079G>T (p.Ser360Ile) http://identifiers.org/clinvar/89168 ^@ NM_000179.2(MSH6):c.1082G>A (p.Arg361His) http://identifiers.org/clinvar/89169 ^@ NM_000179.2(MSH6):c.1085delC (p.Pro362Leufs) http://identifiers.org/clinvar/89170 ^@ NM_000179.2(MSH6):c.108T>G (p.Ala36=) http://identifiers.org/clinvar/89171 ^@ NM_000179.2(MSH6):c.1101delT (p.His367Glnfs) http://identifiers.org/clinvar/89172 ^@ NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) http://identifiers.org/clinvar/89173 ^@ NM_000179.2(MSH6):c.1133G>A (p.Arg378Lys) http://identifiers.org/clinvar/89174 ^@ NM_000179.2(MSH6):c.1135_1139delAGAGA (p.Arg379Terfs) http://identifiers.org/clinvar/89175 ^@ NM_000179.2(MSH6):c.1139_1143delATGAG (p.Asp380Alafs) http://identifiers.org/clinvar/89176 ^@ NM_000179.2(MSH6):c.1144C>T (p.His382Tyr) http://identifiers.org/clinvar/89177 ^@ NM_000179.2(MSH6):c.1153_1155delAGG (p.Arg385del) http://identifiers.org/clinvar/89178 ^@ NM_000179.2(MSH6):c.1190_1191delAT (p.Tyr397Cysfs) http://identifiers.org/clinvar/89179 ^@ NM_000179.2(MSH6):c.1193T>A (p.Val398Glu) http://identifiers.org/clinvar/89180 ^@ NM_000179.2(MSH6):c.124C>T (p.Pro42Ser) http://identifiers.org/clinvar/89181 ^@ NM_000179.2(MSH6):c.1257G>A (p.Gln419=) http://identifiers.org/clinvar/89182 ^@ NM_000179.2(MSH6):c.1272C>G (p.Val424=) http://identifiers.org/clinvar/89183 ^@ NM_000179.2(MSH6):c.1273A>G (p.Ile425Val) http://identifiers.org/clinvar/89184 ^@ NM_000179.2(MSH6):c.1276delT (p.Cys426Valfs) http://identifiers.org/clinvar/89185 ^@ NM_000179.2(MSH6):c.1299T>A (p.Tyr433Ter) http://identifiers.org/clinvar/89186 ^@ NM_000179.2(MSH6):c.1304T>C (p.Leu435Pro) http://identifiers.org/clinvar/89187 ^@ NM_000179.2(MSH6):c.1325T>C (p.Ile442Thr) http://identifiers.org/clinvar/89188 ^@ NM_000179.2(MSH6):c.1338A>T (p.Glu446Asp) http://identifiers.org/clinvar/89189 ^@ NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) http://identifiers.org/clinvar/89190 ^@ NM_000179.2(MSH6):c.1369G>C (p.Ala457Pro) http://identifiers.org/clinvar/89191 ^@ NM_000179.2(MSH6):c.1402C>T (p.Arg468Cys) http://identifiers.org/clinvar/89192 ^@ NM_000179.2(MSH6):c.1403G>A (p.Arg468His) http://identifiers.org/clinvar/89193 ^@ NM_000179.2(MSH6):c.1421_1422dupTG (p.Gln475Cysfs) http://identifiers.org/clinvar/89194 ^@ NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) http://identifiers.org/clinvar/89195 ^@ NM_000179.2(MSH6):c.1474A>G (p.Met492Val) http://identifiers.org/clinvar/89196 ^@ NM_000179.2(MSH6):c.1477G>T (p.Glu493Ter) http://identifiers.org/clinvar/89197 ^@ NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) http://identifiers.org/clinvar/89198 ^@ NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) http://identifiers.org/clinvar/89199 ^@ NM_000179.2(MSH6):c.1547T>A (p.Ile516Asn) http://identifiers.org/clinvar/89200 ^@ NM_000179.2(MSH6):c.1565A>G (p.Gln522Arg) http://identifiers.org/clinvar/89201 ^@ NM_000179.2(MSH6):c.1569T>G (p.Thr523=) http://identifiers.org/clinvar/89202 ^@ NM_000179.2(MSH6):c.1572C>G (p.Tyr524Ter) http://identifiers.org/clinvar/89203 ^@ NM_000179.2(MSH6):c.1580delT (p.Leu527Argfs) http://identifiers.org/clinvar/89204 ^@ NM_000179.2(MSH6):c.1590delT (p.Ser532Leufs) http://identifiers.org/clinvar/89205 ^@ NM_000179.2(MSH6):c.1596dupT (p.Glu533Terfs) http://identifiers.org/clinvar/89206 ^@ NM_000179.2(MSH6):c.1614_1615delTCinsAG (p.Tyr538Ter) http://identifiers.org/clinvar/89207 ^@ NM_000179.2(MSH6):c.1614_1615delTCinsG (p.Tyr538Terfs) http://identifiers.org/clinvar/89208 ^@ NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) http://identifiers.org/clinvar/89209 ^@ NM_000179.2(MSH6):c.1628_1629delAA (p.Lys543Argfs) http://identifiers.org/clinvar/89210 ^@ NM_000179.2(MSH6):c.1632_1635delAAAA (p.Lys545Argfs) http://identifiers.org/clinvar/89211 ^@ NM_000179.2(MSH6):c.1634_1637delAAGA (p.Lys545Argfs) http://identifiers.org/clinvar/89212 ^@ NM_000179.2(MSH6):c.1636G>C (p.Glu546Gln) http://identifiers.org/clinvar/89213 ^@ NM_000179.2(MSH6):c.1637_1638delAG (p.Glu546Glyfs) http://identifiers.org/clinvar/89214 ^@ NM_000179.2(MSH6):c.1667A>T (p.Tyr556Phe) http://identifiers.org/clinvar/89215 ^@ NM_000179.2(MSH6):c.1676G>A (p.Cys559Tyr) http://identifiers.org/clinvar/89216 ^@ NM_000179.2(MSH6):c.1677C>T (p.Cys559=) http://identifiers.org/clinvar/89217 ^@ NM_000179.2(MSH6):c.1696G>A (p.Gly566Arg) http://identifiers.org/clinvar/89218 ^@ NM_000179.2(MSH6):c.1729C>T (p.Arg577Cys) http://identifiers.org/clinvar/89219 ^@ NM_000179.2(MSH6):c.1739C>T (p.Ser580Leu) http://identifiers.org/clinvar/89220 ^@ NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) http://identifiers.org/clinvar/89221 ^@ NM_000179.2(MSH6):c.1770C>T (p.Pro590=) http://identifiers.org/clinvar/89222 ^@ NM_000179.2(MSH6):c.1771C>T (p.Pro591Ser) http://identifiers.org/clinvar/89223 ^@ NM_000179.2(MSH6):c.1784delT (p.Leu595Tyrfs) http://identifiers.org/clinvar/89224 ^@ NM_000179.2(MSH6):c.1806_1809delAAAG (p.Glu604Leufs) http://identifiers.org/clinvar/89225 ^@ NM_000179.2(MSH6):c.1819dupA (p.Thr607Asnfs) http://identifiers.org/clinvar/89226 ^@ NM_000179.2(MSH6):c.1830G>T (p.Lys610Asn) http://identifiers.org/clinvar/89227 ^@ NM_000179.2(MSH6):c.1835C>A (p.Ser612Ter) http://identifiers.org/clinvar/89228 ^@ NM_000179.2(MSH6):c.1857A>C (p.Glu619Asp) http://identifiers.org/clinvar/89229 ^@ NM_000179.2(MSH6):c.1868C>T (p.Pro623Leu) http://identifiers.org/clinvar/89230 ^@ NM_000179.2(MSH6):c.1869delC (p.Gly624Alafs) http://identifiers.org/clinvar/89231 ^@ NM_000179.2(MSH6):c.1875C>T (p.Ser625=) http://identifiers.org/clinvar/89232 ^@ NM_000179.2(MSH6):c.1901_1902delTG (p.Leu634Terfs) http://identifiers.org/clinvar/89233 ^@ NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) http://identifiers.org/clinvar/89234 ^@ NM_000179.2(MSH6):c.194C>T (p.Ser65Leu) http://identifiers.org/clinvar/89235 ^@ NM_000179.2(MSH6):c.1957_1960dupGTGA (p.Met654Serfs) http://identifiers.org/clinvar/89236 ^@ NM_000179.2(MSH6):c.1996T>C (p.Ser666Pro) http://identifiers.org/clinvar/89237 ^@ NM_000179.2(MSH6):c.2006T>C (p.Ile669Thr) http://identifiers.org/clinvar/89238 ^@ NM_000179.2(MSH6):c.2008G>A (p.Gly670Arg) http://identifiers.org/clinvar/89239 ^@ NM_000179.2(MSH6):c.2025G>C (p.Glu675Asp) http://identifiers.org/clinvar/89240 ^@ NM_000179.2(MSH6):c.2030G>C (p.Ser677Thr) http://identifiers.org/clinvar/89241 ^@ NM_000179.2(MSH6):c.2045C>T (p.Ser682Phe) http://identifiers.org/clinvar/89242 ^@ NM_000179.2(MSH6):c.2045_2046delCT (p.Ser682Cysfs) http://identifiers.org/clinvar/89243 ^@ NM_000179.2(MSH6):c.2050_2051dupCT (p.Gly685Terfs) http://identifiers.org/clinvar/89244 ^@ NM_000179.2(MSH6):c.2054G>C (p.Gly685Ala) http://identifiers.org/clinvar/89245 ^@ NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) http://identifiers.org/clinvar/89246 ^@ NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) http://identifiers.org/clinvar/89247 ^@ NM_000179.2(MSH6):c.2062_2063delGT (p.Val688Leufs) http://identifiers.org/clinvar/89248 ^@ NM_000179.2(MSH6):c.2080T>C (p.Cys694Arg) http://identifiers.org/clinvar/89249 ^@ NM_000179.2(MSH6):c.2087T>C (p.Ile696Thr) http://identifiers.org/clinvar/89250 ^@ NM_000179.2(MSH6):c.2092C>A (p.Gln698Lys) http://identifiers.org/clinvar/89251 ^@ NM_000179.2(MSH6):c.2092C>G (p.Gln698Glu) http://identifiers.org/clinvar/89252 ^@ NM_000179.2(MSH6):c.2098C>T (p.Leu700Phe) http://identifiers.org/clinvar/89253 ^@ NM_000179.2(MSH6):c.2105C>G (p.Ser702Ter) http://identifiers.org/clinvar/89254 ^@ NM_000179.2(MSH6):c.2117T>C (p.Phe706Ser) http://identifiers.org/clinvar/89255 ^@ NM_000179.2(MSH6):c.2127T>A (p.Tyr709Ter) http://identifiers.org/clinvar/89256 ^@ NM_000179.2(MSH6):c.2150_2153delTCAG (p.Val717Alafs) http://identifiers.org/clinvar/89257 ^@ NM_000179.2(MSH6):c.2175C>G (p.Ile725Met) http://identifiers.org/clinvar/89258 ^@ NM_000179.2(MSH6):c.2176_2177delTTinsAG (p.Phe726Ser) http://identifiers.org/clinvar/89259 ^@ NM_000179.2(MSH6):c.2177T>A (p.Phe726Tyr) http://identifiers.org/clinvar/89260 ^@ NM_000179.2(MSH6):c.2183A>C (p.Lys728Thr) http://identifiers.org/clinvar/89261 ^@ NM_000179.2(MSH6):c.2191C>T (p.Gln731Ter) http://identifiers.org/clinvar/89262 ^@ NM_000179.2(MSH6):c.2194C>T (p.Arg732Ter) http://identifiers.org/clinvar/89263 ^@ NM_000179.2(MSH6):c.2239C>T (p.Leu747=) http://identifiers.org/clinvar/89264 ^@ NM_000179.2(MSH6):c.2282G>A (p.Arg761Lys) http://identifiers.org/clinvar/89265 ^@ NM_000179.2(MSH6):c.2295C>G (p.Cys765Trp) http://identifiers.org/clinvar/89266 ^@ NM_000179.2(MSH6):c.2302_2304delCCT (p.Pro768del) http://identifiers.org/clinvar/89267 ^@ NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) http://identifiers.org/clinvar/89268 ^@ NM_000179.2(MSH6):c.2319C>A (p.Leu773=) http://identifiers.org/clinvar/89269 ^@ NM_000179.2(MSH6):c.2319C>T (p.Leu773=) http://identifiers.org/clinvar/89270 ^@ NM_000179.2(MSH6):c.2329T>A (p.Trp777Arg) http://identifiers.org/clinvar/89271 ^@ NM_000179.2(MSH6):c.2330G>A (p.Trp777Ter) http://identifiers.org/clinvar/89272 ^@ NM_000179.2(MSH6):c.2339C>G (p.Ala780Gly) http://identifiers.org/clinvar/89273 ^@ NM_000179.2(MSH6):c.2341C>T (p.Pro781Ser) http://identifiers.org/clinvar/89274 ^@ NM_000179.2(MSH6):c.2348_2349delGT (p.Cys783Terfs) http://identifiers.org/clinvar/89275 ^@ NM_000179.2(MSH6):c.2360C>T (p.Ala787Val) http://identifiers.org/clinvar/89276 ^@ NM_000179.2(MSH6):c.2375T>C (p.Leu792Pro) http://identifiers.org/clinvar/89277 ^@ NM_000179.2(MSH6):c.2379_2380delTG (p.Ala794Hisfs) http://identifiers.org/clinvar/89278 ^@ NM_000179.2(MSH6):c.2392C>G (p.Leu798Val) http://identifiers.org/clinvar/89279 ^@ NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) http://identifiers.org/clinvar/89280 ^@ NM_000179.2(MSH6):c.2400T>C (p.Val800=) http://identifiers.org/clinvar/89281 ^@ NM_000179.2(MSH6):c.2408A>G (p.Asp803Gly) http://identifiers.org/clinvar/89282 ^@ NM_000179.2(MSH6):c.241G>A (p.Ala81Thr) http://identifiers.org/clinvar/89283 ^@ NM_000179.2(MSH6):c.2426_2428delTAG (p.Val809del) http://identifiers.org/clinvar/89284 ^@ NM_000179.2(MSH6):c.2491C>G (p.Pro831Ala) http://identifiers.org/clinvar/89285 ^@ NM_000179.2(MSH6):c.2503C>T (p.Gln835Ter) http://identifiers.org/clinvar/89286 ^@ NM_000179.2(MSH6):c.2535dupT (p.Glu846Terfs) http://identifiers.org/clinvar/89287 ^@ NM_000179.2(MSH6):c.2549A>G (p.Tyr850Cys) http://identifiers.org/clinvar/89288 ^@ NM_000179.2(MSH6):c.255C>A (p.Pro85=) http://identifiers.org/clinvar/89289 ^@ NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) http://identifiers.org/clinvar/89290 ^@ NM_000179.2(MSH6):c.2569_2572delGATT (p.Asp857Phefs) http://identifiers.org/clinvar/89291 ^@ NM_000179.2(MSH6):c.2597A>C (p.Lys866Thr) http://identifiers.org/clinvar/89292 ^@ NM_000179.2(MSH6):c.260+101C>A http://identifiers.org/clinvar/89293 ^@ NM_000179.2(MSH6):c.260+131C>A http://identifiers.org/clinvar/89294 ^@ NM_000179.2(MSH6):c.260+2214C>T http://identifiers.org/clinvar/89295 ^@ NM_000179.2(MSH6):c.260+22C>G http://identifiers.org/clinvar/89296 ^@ NM_000179.2(MSH6):c.260+2467A>G http://identifiers.org/clinvar/89297 ^@ NM_000179.2(MSH6):c.260+25A>C http://identifiers.org/clinvar/89298 ^@ NM_000179.2(MSH6):c.260+43G>A http://identifiers.org/clinvar/89299 ^@ NM_000179.2(MSH6):c.260+96A>C http://identifiers.org/clinvar/89300 ^@ NM_000179.2(MSH6):c.261-1170G>T http://identifiers.org/clinvar/89301 ^@ NM_000179.2(MSH6):c.261-36A>G http://identifiers.org/clinvar/89302 ^@ NM_000179.2(MSH6):c.261-?_457+?dup http://identifiers.org/clinvar/89303 ^@ NM_000179.2(MSH6):c.2611_2614dupATTA (p.Ile872Asnfs) http://identifiers.org/clinvar/89304 ^@ NM_000179.2(MSH6):c.2633T>G (p.Val878Gly) http://identifiers.org/clinvar/89305 ^@ NM_000179.2(MSH6):c.2641delGinsAAAA (p.Gly881delinsLysSer) http://identifiers.org/clinvar/89306 ^@ NM_000179.2(MSH6):c.2656A>G (p.Ile886Val) http://identifiers.org/clinvar/89307 ^@ NM_000179.2(MSH6):c.2661T>G (p.Leu887=) http://identifiers.org/clinvar/89308 ^@ NM_000179.2(MSH6):c.2672_2674delTCTinsC (p.Ile891Thrfs) http://identifiers.org/clinvar/89309 ^@ NM_000179.2(MSH6):c.2702G>A (p.Arg901His) http://identifiers.org/clinvar/89310 ^@ NM_000179.2(MSH6):c.2714T>A (p.Leu905Ter) http://identifiers.org/clinvar/89311 ^@ NM_000179.2(MSH6):c.2719_2720delGT (p.Val907Argfs) http://identifiers.org/clinvar/89312 ^@ NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) http://identifiers.org/clinvar/89313 ^@ NM_000179.2(MSH6):c.2739T>C (p.Asp913=) http://identifiers.org/clinvar/89314 ^@ NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter) http://identifiers.org/clinvar/89315 ^@ NM_000179.2(MSH6):c.2765delG (p.Arg922Glnfs) http://identifiers.org/clinvar/89316 ^@ NM_000179.2(MSH6):c.2768dupA (p.Thr924Aspfs) http://identifiers.org/clinvar/89317 ^@ NM_000179.2(MSH6):c.2775A>C (p.Gly925=) http://identifiers.org/clinvar/89318 ^@ NM_000179.2(MSH6):c.2815C>T (p.Gln939Ter) http://identifiers.org/clinvar/89319 ^@ NM_000179.2(MSH6):c.2825_2827delCTG (p.Ala942del) http://identifiers.org/clinvar/89320 ^@ NM_000179.2(MSH6):c.2851_2858delCTCCTGGA (p.Leu951Ilefs) http://identifiers.org/clinvar/89321 ^@ NM_000179.2(MSH6):c.2906A>C (p.Tyr969Ser) http://identifiers.org/clinvar/89322 ^@ NM_000179.2(MSH6):c.2927G>A (p.Arg976His) http://identifiers.org/clinvar/89323 ^@ NM_000179.2(MSH6):c.2931C>G (p.Tyr977Ter) http://identifiers.org/clinvar/89324 ^@ NM_000179.2(MSH6):c.2945delC (p.Pro982Leufs) http://identifiers.org/clinvar/89325 ^@ NM_000179.2(MSH6):c.2955C>G (p.Phe985Leu) http://identifiers.org/clinvar/89326 ^@ NM_000179.2(MSH6):c.2976delA (p.Glu993Asnfs) http://identifiers.org/clinvar/89327 ^@ NM_000179.2(MSH6):c.297G>T (p.Lys99Asn) http://identifiers.org/clinvar/89328 ^@ NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) http://identifiers.org/clinvar/89329 ^@ NM_000179.2(MSH6):c.2984delA (p.Glu995Glyfs) http://identifiers.org/clinvar/89330 ^@ NM_000179.2(MSH6):c.3013C>T (p.Arg1005Ter) http://identifiers.org/clinvar/89331 ^@ NM_000179.2(MSH6):c.3020G>A (p.Trp1007Ter) http://identifiers.org/clinvar/89332 ^@ NM_000179.2(MSH6):c.3021G>C (p.Trp1007Cys) http://identifiers.org/clinvar/89333 ^@ NM_000179.2(MSH6):c.3040_3042delAAG (p.Lys1014del) http://identifiers.org/clinvar/89334 ^@ NM_000179.2(MSH6):c.3053_3054delTC (p.Leu1018Hisfs) http://identifiers.org/clinvar/89335 ^@ NM_000179.2(MSH6):c.3062C>A (p.Ala1021Asp) http://identifiers.org/clinvar/89336 ^@ NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) http://identifiers.org/clinvar/89337 ^@ NM_000179.2(MSH6):c.3076G>T (p.Asp1026Tyr) http://identifiers.org/clinvar/89338 ^@ NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter) http://identifiers.org/clinvar/89339 ^@ NM_000179.2(MSH6):c.3119_3120delTT (p.Phe1040Terfs) http://identifiers.org/clinvar/89340 ^@ NM_000179.2(MSH6):c.3155_3156delAG (p.Glu1052Valfs) http://identifiers.org/clinvar/89341 ^@ NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) http://identifiers.org/clinvar/89342 ^@ NM_000179.2(MSH6):c.3163G>A (p.Ala1055Thr) http://identifiers.org/clinvar/89343 ^@ NM_000179.2(MSH6):c.3172+171C>T http://identifiers.org/clinvar/89344 ^@ NM_000179.2(MSH6):c.3172+1G>T http://identifiers.org/clinvar/89345 ^@ NM_000179.2(MSH6):c.3173-101G>C http://identifiers.org/clinvar/89346 ^@ NM_000179.2(MSH6):c.3173-18T>C http://identifiers.org/clinvar/89347 ^@ NM_000179.2(MSH6):c.3173-1_3173del http://identifiers.org/clinvar/89348 ^@ NM_000179.2(MSH6):c.3173-433_3556+228del http://identifiers.org/clinvar/89349 ^@ NM_000179.2(MSH6):c.3182delT (p.Leu1061Argfs) http://identifiers.org/clinvar/89350 ^@ NM_000179.2(MSH6):c.3195_3198delCTAT (p.Asn1065Lysfs) http://identifiers.org/clinvar/89351 ^@ NM_000179.2(MSH6):c.3198_3199dupTA (p.Ser1067Ilefs) http://identifiers.org/clinvar/89352 ^@ NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) http://identifiers.org/clinvar/89353 ^@ NM_000179.2(MSH6):c.3206G>A (p.Gly1069Glu) http://identifiers.org/clinvar/89354 ^@ NM_000179.2(MSH6):c.3207G>T (p.Gly1069=) http://identifiers.org/clinvar/89355 ^@ NM_000179.2(MSH6):c.3218C>G (p.Pro1073Arg) http://identifiers.org/clinvar/89356 ^@ NM_000179.2(MSH6):c.3221delT (p.Met1074Serfs) http://identifiers.org/clinvar/89357 ^@ NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) http://identifiers.org/clinvar/89358 ^@ NM_000179.2(MSH6):c.3245C>T (p.Pro1082Leu) http://identifiers.org/clinvar/89359 ^@ NM_000179.2(MSH6):c.3259C>A (p.Pro1087Thr) http://identifiers.org/clinvar/89360 ^@ NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) http://identifiers.org/clinvar/89361 ^@ NM_000179.2(MSH6):c.3259_3260insT (p.Pro1087Leufs) http://identifiers.org/clinvar/89362 ^@ NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) http://identifiers.org/clinvar/89363 ^@ NM_000179.2(MSH6):c.3261delC (p.Phe1088Serfs) http://identifiers.org/clinvar/89364 ^@ NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) http://identifiers.org/clinvar/89365 ^@ NM_000179.2(MSH6):c.3263dupT (p.Glu1090Argfs) http://identifiers.org/clinvar/89366 ^@ NM_000179.2(MSH6):c.3268_3274delGAGCTTA (p.Glu1090Lysfs) http://identifiers.org/clinvar/89367 ^@ NM_000179.2(MSH6):c.3273dupT (p.Lys1092Terfs) http://identifiers.org/clinvar/89368 ^@ NM_000179.2(MSH6):c.3284G>A (p.Arg1095His) http://identifiers.org/clinvar/89369 ^@ NM_000179.2(MSH6):c.3299C>T (p.Thr1100Met) http://identifiers.org/clinvar/89370 ^@ NM_000179.2(MSH6):c.3311_3312delTT (p.Phe1104Trpfs) http://identifiers.org/clinvar/89371 ^@ NM_000179.2(MSH6):c.3312delT (p.Phe1104Leufs) http://identifiers.org/clinvar/89372 ^@ NM_000179.2(MSH6):c.3320delA (p.Asp1107Valfs) http://identifiers.org/clinvar/89373 ^@ NM_000179.2(MSH6):c.3324dupT (p.Ile1109Tyrfs) http://identifiers.org/clinvar/89374 ^@ NM_000179.2(MSH6):c.3341_3342insC (p.Ile1115Asnfs) http://identifiers.org/clinvar/89375 ^@ NM_000179.2(MSH6):c.3355G>T (p.Glu1119Ter) http://identifiers.org/clinvar/89376 ^@ NM_000179.2(MSH6):c.3367G>T (p.Glu1123Ter) http://identifiers.org/clinvar/89377 ^@ NM_000179.2(MSH6):c.3379_3438+5del65 http://identifiers.org/clinvar/89378 ^@ NM_000179.2(MSH6):c.3383A>G (p.Tyr1128Cys) http://identifiers.org/clinvar/89379 ^@ NM_000179.2(MSH6):c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu) http://identifiers.org/clinvar/89380 ^@ NM_000179.2(MSH6):c.3415G>A (p.Gly1139Ser) http://identifiers.org/clinvar/89381 ^@ NM_000179.2(MSH6):c.3425C>T (p.Thr1142Met) http://identifiers.org/clinvar/89382 ^@ NM_000179.2(MSH6):c.3436C>T (p.Gln1146Ter) http://identifiers.org/clinvar/89383 ^@ NM_000179.2(MSH6):c.3437A>C (p.Gln1146Pro) http://identifiers.org/clinvar/89384 ^@ NM_000179.2(MSH6):c.3438+11_3438+14delCTTA http://identifiers.org/clinvar/89385 ^@ NM_000179.2(MSH6):c.3438+13dupT http://identifiers.org/clinvar/89386 ^@ NM_000179.2(MSH6):c.3438+1G>A http://identifiers.org/clinvar/89387 ^@ NM_000179.2(MSH6):c.3438+6T>C http://identifiers.org/clinvar/89388 ^@ NM_000179.2(MSH6):c.3438+797_3438+798insTATins1839_3438+797 http://identifiers.org/clinvar/89389 ^@ NM_000179.2(MSH6):c.3439-16C>T http://identifiers.org/clinvar/89390 ^@ NM_000179.2(MSH6):c.3439-1G>T http://identifiers.org/clinvar/89391 ^@ NM_000179.2(MSH6):c.3439-2A>G http://identifiers.org/clinvar/89392 ^@ NM_000179.2(MSH6):c.3442G>C (p.Gly1148Arg) http://identifiers.org/clinvar/89393 ^@ NM_000179.2(MSH6):c.3469G>A (p.Gly1157Ser) http://identifiers.org/clinvar/89394 ^@ NM_000179.2(MSH6):c.3473_3475delGTT (p.Cys1158del) http://identifiers.org/clinvar/89395 ^@ NM_000179.2(MSH6):c.3477C>T (p.Tyr1159=) http://identifiers.org/clinvar/89396 ^@ NM_000179.2(MSH6):c.3478G>C (p.Val1160Leu) http://identifiers.org/clinvar/89397 ^@ NM_000179.2(MSH6):c.3484G>C (p.Ala1162Pro) http://identifiers.org/clinvar/89398 ^@ NM_000179.2(MSH6):c.3485_3487dupCTG (p.Ala1162_Glu1163insAla) http://identifiers.org/clinvar/89399 ^@ NM_000179.2(MSH6):c.3487G>T (p.Glu1163Ter) http://identifiers.org/clinvar/89400 ^@ NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) http://identifiers.org/clinvar/89401 ^@ NM_000179.2(MSH6):c.3511_3512delGA (p.Asp1171Terfs) http://identifiers.org/clinvar/89402 ^@ NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) http://identifiers.org/clinvar/89403 ^@ NM_000179.2(MSH6):c.3513_3514delTA (p.Asp1171Glufs) http://identifiers.org/clinvar/89404 ^@ NM_000179.2(MSH6):c.3514dupA (p.Arg1172Lysfs) http://identifiers.org/clinvar/89405 ^@ NM_000179.2(MSH6):c.3516_3519delAGTG (p.Arg1172Serfs) http://identifiers.org/clinvar/89406 ^@ NM_000179.2(MSH6):c.3517_3528delGTGTTTACTAGA (p.Val1173_Arg1176del) http://identifiers.org/clinvar/89407 ^@ NM_000179.2(MSH6):c.3519_3520insA (p.Phe1174Ilefs) http://identifiers.org/clinvar/89408 ^@ NM_000179.2(MSH6):c.3519_3522dupGTTT (p.Thr1175Valfs) http://identifiers.org/clinvar/89409 ^@ NM_000179.2(MSH6):c.3543C>G (p.Asp1181Glu) http://identifiers.org/clinvar/89410 ^@ NM_000179.2(MSH6):c.3556+146G>A http://identifiers.org/clinvar/89411 ^@ NM_000179.2(MSH6):c.3556+160T>C http://identifiers.org/clinvar/89412 ^@ NM_000179.2(MSH6):c.3556+3_3556+13del http://identifiers.org/clinvar/89413 ^@ NM_000179.2(MSH6):c.3556+64C>A http://identifiers.org/clinvar/89414 ^@ NM_000179.2(MSH6):c.3557-2dup http://identifiers.org/clinvar/89415 ^@ NM_000179.2(MSH6):c.3557-3A>T http://identifiers.org/clinvar/89416 ^@ NM_000179.2(MSH6):c.3557-40T>A http://identifiers.org/clinvar/89417 ^@ NM_000179.2(MSH6):c.3557-4delT http://identifiers.org/clinvar/89418 ^@ NM_000179.2(MSH6):c.3557-4dupT http://identifiers.org/clinvar/89419 ^@ NM_000179.2(MSH6):c.3557-?_(*93_?)del http://identifiers.org/clinvar/89420 ^@ NM_000179.2(MSH6):c.3558_3565delTGAAAGTA (p.Glu1187Ilefs) http://identifiers.org/clinvar/89421 ^@ NM_000179.2(MSH6):c.3563G>A (p.Ser1188Asn) http://identifiers.org/clinvar/89422 ^@ NM_000179.2(MSH6):c.3577G>A (p.Glu1193Lys) http://identifiers.org/clinvar/89423 ^@ NM_000179.2(MSH6):c.3601C>G (p.Leu1201Val) http://identifiers.org/clinvar/89424 ^@ NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) http://identifiers.org/clinvar/89425 ^@ NM_000179.2(MSH6):c.3609_3612delTGCA (p.His1203Glnfs) http://identifiers.org/clinvar/89426 ^@ NM_000179.2(MSH6):c.3614C>T (p.Thr1205Ile) http://identifiers.org/clinvar/89427 ^@ NM_000179.2(MSH6):c.3635dupT (p.Asp1213Glyfs) http://identifiers.org/clinvar/89428 ^@ NM_000179.2(MSH6):c.363C>T (p.Arg121=) http://identifiers.org/clinvar/89429 ^@ NM_000179.2(MSH6):c.3646+35_3646+38delATCT http://identifiers.org/clinvar/89430 ^@ NM_000179.2(MSH6):c.3646+35_3646+38dup http://identifiers.org/clinvar/89431 ^@ NM_000179.2(MSH6):c.3646+3_3646+4insT http://identifiers.org/clinvar/89432 ^@ NM_000179.2(MSH6):c.3646+91T>C http://identifiers.org/clinvar/89433 ^@ NM_000179.2(MSH6):c.3646_3646+3del http://identifiers.org/clinvar/89434 ^@ NM_000179.2(MSH6):c.3647-1G>A http://identifiers.org/clinvar/89435 ^@ NM_000179.2(MSH6):c.3647-2A>C http://identifiers.org/clinvar/89436 ^@ MSH6:c.3647-51_3647-35del17 http://identifiers.org/clinvar/89437 ^@ NM_000179.2(MSH6):c.3647-51_3647-35dup17 http://identifiers.org/clinvar/89439 ^@ NM_000179.2(MSH6):c.3647-66_3647-61del http://identifiers.org/clinvar/89440 ^@ NM_000179.2(MSH6):c.3647-6_3647-1del http://identifiers.org/clinvar/89441 ^@ NM_000179.2(MSH6):c.3650G>A (p.Arg1217Lys) http://identifiers.org/clinvar/89442 ^@ NM_000179.2(MSH6):c.3656C>T (p.Thr1219Ile) http://identifiers.org/clinvar/89443 ^@ NM_000179.2(MSH6):c.3674C>T (p.Thr1225Met) http://identifiers.org/clinvar/89444 ^@ NM_000179.2(MSH6):c.3678_3706dup29 (p.Ala1236Glufs) http://identifiers.org/clinvar/89445 ^@ NM_000179.2(MSH6):c.3679A>T (p.Ile1227Leu) http://identifiers.org/clinvar/89446 ^@ NM_000179.2(MSH6):c.3682G>C (p.Ala1228Pro) http://identifiers.org/clinvar/89447 ^@ NM_000179.2(MSH6):c.3694G>C (p.Val1232Leu) http://identifiers.org/clinvar/89448 ^@ NM_000179.2(MSH6):c.3694_3696delGTT (p.Val1232del) http://identifiers.org/clinvar/89449 ^@ NM_000179.2(MSH6):c.3724C>A (p.Arg1242Ser) http://identifiers.org/clinvar/89450 ^@ NM_000179.2(MSH6):c.3724_3726delCGT (p.Arg1242del) http://identifiers.org/clinvar/89451 ^@ NM_000179.2(MSH6):c.3725G>T (p.Arg1242Leu) http://identifiers.org/clinvar/89452 ^@ NM_000179.2(MSH6):c.3725_3727delGTA (p.Arg1242_Thr1243delinsPro) http://identifiers.org/clinvar/89453 ^@ NM_000179.2(MSH6):c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs) http://identifiers.org/clinvar/89454 ^@ NM_000179.2(MSH6):c.3729_3732dupATTA (p.Phe1245Ilefs) http://identifiers.org/clinvar/89455 ^@ NM_000179.2(MSH6):c.3742C>G (p.His1248Asp) http://identifiers.org/clinvar/89456 ^@ NM_000179.2(MSH6):c.3757_3758insA (p.Val1253Aspfs) http://identifiers.org/clinvar/89457 ^@ NM_000179.2(MSH6):c.3762A>T (p.Glu1254Asp) http://identifiers.org/clinvar/89458 ^@ NM_000179.2(MSH6):c.3768T>G (p.Tyr1256Ter) http://identifiers.org/clinvar/89459 ^@ NM_000179.2(MSH6):c.3772C>T (p.Gln1258Ter) http://identifiers.org/clinvar/89460 ^@ NM_000179.2(MSH6):c.3784G>C (p.Val1262Leu) http://identifiers.org/clinvar/89461 ^@ NM_000179.2(MSH6):c.3787C>T (p.Arg1263Cys) http://identifiers.org/clinvar/89462 ^@ NM_000179.2(MSH6):c.3798_3801+26del http://identifiers.org/clinvar/89463 ^@ NM_000179.2(MSH6):c.3799_3800delAT (p.Met1267Glyfs) http://identifiers.org/clinvar/89464 ^@ NM_000179.2(MSH6):c.3801+17T>C http://identifiers.org/clinvar/89465 ^@ NM_000179.2(MSH6):c.3801+38T>A http://identifiers.org/clinvar/89466 ^@ NM_000179.2(MSH6):c.3802-42_3802-41insA http://identifiers.org/clinvar/89467 ^@ NM_000179.2(MSH6):c.3802-43dupT http://identifiers.org/clinvar/89468 ^@ NM_000179.2(MSH6):c.3803C>A (p.Ala1268Glu) http://identifiers.org/clinvar/89469 ^@ NM_000179.2(MSH6):c.3804dupA (p.Cys1269Metfs) http://identifiers.org/clinvar/89470 ^@ NM_000179.2(MSH6):c.3820G>A (p.Glu1274Lys) http://identifiers.org/clinvar/89471 ^@ NM_000179.2(MSH6):c.3821_3824dupAATG (p.Cys1275Terfs) http://identifiers.org/clinvar/89472 ^@ NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter) http://identifiers.org/clinvar/89473 ^@ NM_000179.2(MSH6):c.383G>T (p.Arg128Leu) http://identifiers.org/clinvar/89474 ^@ NM_000179.2(MSH6):c.3840_3846delGGAGACT (p.Glu1281Leufs) http://identifiers.org/clinvar/89475 ^@ NM_000179.2(MSH6):c.3847_3850dupATTA (p.Thr1284Asnfs) http://identifiers.org/clinvar/89476 ^@ NM_000179.2(MSH6):c.3851C>T (p.Thr1284Met) http://identifiers.org/clinvar/89477 ^@ NM_000179.2(MSH6):c.3852G>A (p.Thr1284=) http://identifiers.org/clinvar/89478 ^@ NM_000179.2(MSH6):c.3887_3893delAAAGCTA (p.Lys1296Metfs) http://identifiers.org/clinvar/89479 ^@ NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) http://identifiers.org/clinvar/89480 ^@ NM_000179.2(MSH6):c.3918dupT (p.Asn1307Terfs) http://identifiers.org/clinvar/89481 ^@ NM_000179.2(MSH6):c.3920_3927dupATCTCCCA (p.Glu1310Ilefs) http://identifiers.org/clinvar/89482 ^@ NM_000179.2(MSH6):c.3930G>C (p.Glu1310Asp) http://identifiers.org/clinvar/89483 ^@ NM_000179.2(MSH6):c.3932_3935dupAAGT (p.Ile1313Serfs) http://identifiers.org/clinvar/89484 ^@ NM_000179.2(MSH6):c.3936T>C (p.Val1312=) http://identifiers.org/clinvar/89485 ^@ NM_000179.2(MSH6):c.3938_3941dupTTCA (p.Gln1314Hisfs) http://identifiers.org/clinvar/89486 ^@ NM_000179.2(MSH6):c.3939_3957dup19 (p.Ala1320Serfs) http://identifiers.org/clinvar/89487 ^@ NM_000179.2(MSH6):c.3953_3954ins32 (p.?) http://identifiers.org/clinvar/89488 ^@ NM_000179.2(MSH6):c.3959_3962delCAAG (p.Ala1320Glufs) http://identifiers.org/clinvar/89489 ^@ NM_000179.2(MSH6):c.395A>C (p.Gln132Pro) http://identifiers.org/clinvar/89490 ^@ NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) http://identifiers.org/clinvar/89491 ^@ NM_000179.2(MSH6):c.3963A>T (p.Arg1321Ser) http://identifiers.org/clinvar/89492 ^@ NM_000179.2(MSH6):c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs) http://identifiers.org/clinvar/89493 ^@ NM_000179.2(MSH6):c.3969_4001+51dup http://identifiers.org/clinvar/89494 ^@ NM_000179.2(MSH6):c.3974_3976delAGA (p.Lys1325del) http://identifiers.org/clinvar/89495 ^@ NM_000179.2(MSH6):c.3984_3985insATCA (p.Ser1329Ilefs) http://identifiers.org/clinvar/89496 ^@ NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) http://identifiers.org/clinvar/89497 ^@ NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) http://identifiers.org/clinvar/89498 ^@ NM_000179.2(MSH6):c.3996_4000dupATTTC (p.Arg1334Hisfs) http://identifiers.org/clinvar/89499 ^@ NM_000179.2(MSH6):c.4001+11_4001+15dupAACTA http://identifiers.org/clinvar/89500 ^@ NM_000179.2(MSH6):c.4001+2_4001+5delTAAC http://identifiers.org/clinvar/89501 ^@ NM_000179.2(MSH6):c.4001+2T>C http://identifiers.org/clinvar/89502 ^@ NM_000179.2(MSH6):c.4001+32_4001+35dup http://identifiers.org/clinvar/89503 ^@ NM_000179.2(MSH6):c.4001+34_4001+43dup http://identifiers.org/clinvar/89504 ^@ NM_000179.2(MSH6):c.4001+42_4001+45dup http://identifiers.org/clinvar/89505 ^@ NM_000179.2(MSH6):c.4001+47T>C http://identifiers.org/clinvar/89506 ^@ NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) http://identifiers.org/clinvar/89507 ^@ NM_000179.2(MSH6):c.4002-10T>A http://identifiers.org/clinvar/89508 ^@ NM_000179.2(MSH6):c.4002-10delT http://identifiers.org/clinvar/89509 ^@ NM_000179.2(MSH6):c.4002-11_4002-10del http://identifiers.org/clinvar/89510 ^@ NM_000179.2(MSH6):c.4002-11_4002-10dup http://identifiers.org/clinvar/89511 ^@ NM_000179.2(MSH6):c.4002-12_4002-10dup http://identifiers.org/clinvar/89512 ^@ NM_000179.2(MSH6):c.4002-13_4002-10dup http://identifiers.org/clinvar/89513 ^@ NM_000179.2(MSH6):c.4002-22_4002-4del http://identifiers.org/clinvar/89514 ^@ NM_000179.2(MSH6):c.4002-31_4002-8inv http://identifiers.org/clinvar/89515 ^@ NM_000179.2(MSH6):c.4002-8dupA http://identifiers.org/clinvar/89516 ^@ NM_000179.2(MSH6):c.4061T>A (p.Leu1354Gln) http://identifiers.org/clinvar/89517 ^@ NM_000179.2(MSH6):c.4064_4065insGTCA (p.Leu1356Serfs) http://identifiers.org/clinvar/89518 ^@ NM_000179.2(MSH6):c.4068_4071dupGATT (p.Lys1358Aspfs) http://identifiers.org/clinvar/89519 ^@ NM_000179.2(MSH6):c.426G>A (p.Trp142Ter) http://identifiers.org/clinvar/89520 ^@ NM_000179.2(MSH6):c.440T>A (p.Leu147His) http://identifiers.org/clinvar/89521 ^@ NM_000179.2(MSH6):c.457+1223T>C http://identifiers.org/clinvar/89522 ^@ NM_000179.2(MSH6):c.457+13A>G http://identifiers.org/clinvar/89523 ^@ NM_000179.2(MSH6):c.457+14C>G http://identifiers.org/clinvar/89524 ^@ NM_000179.2(MSH6):c.457+2T>A http://identifiers.org/clinvar/89525 ^@ NM_000179.2(MSH6):c.457+394T>C http://identifiers.org/clinvar/89526 ^@ NM_000179.2(MSH6):c.457+52T>A http://identifiers.org/clinvar/89527 ^@ NM_000179.2(MSH6):c.457+52_457+53dup http://identifiers.org/clinvar/89528 ^@ NM_000179.2(MSH6):c.457+59_457+60del http://identifiers.org/clinvar/89529 ^@ NM_000179.2(MSH6):c.457+63_457+64del http://identifiers.org/clinvar/89530 ^@ NM_000179.2(MSH6):c.458-17A>G http://identifiers.org/clinvar/89531 ^@ NM_000179.2(MSH6):c.458-1G>A http://identifiers.org/clinvar/89532 ^@ NM_000179.2(MSH6):c.458-52G>T http://identifiers.org/clinvar/89533 ^@ NM_000179.2(MSH6):c.458-?_627+?del http://identifiers.org/clinvar/89534 ^@ NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) http://identifiers.org/clinvar/89535 ^@ NM_000179.2(MSH6):c.483G>A (p.Lys161=) http://identifiers.org/clinvar/89536 ^@ NM_000179.2(MSH6):c.498C>T (p.Tyr166=) http://identifiers.org/clinvar/89537 ^@ NM_000179.2(MSH6):c.522_523delAG (p.Arg174Serfs) http://identifiers.org/clinvar/89538 ^@ NM_000179.2(MSH6):c.583G>T (p.Val195Phe) http://identifiers.org/clinvar/89539 ^@ NM_000179.2(MSH6):c.599C>A (p.Ser200Ter) http://identifiers.org/clinvar/89540 ^@ NM_000179.2(MSH6):c.59C>T (p.Ala20Val) http://identifiers.org/clinvar/89541 ^@ NM_000179.2(MSH6):c.603G>A (p.Glu201=) http://identifiers.org/clinvar/89542 ^@ NM_000179.2(MSH6):c.627+1200T>C http://identifiers.org/clinvar/89543 ^@ NM_000179.2(MSH6):c.628-56C>T http://identifiers.org/clinvar/89544 ^@ NM_000179.2(MSH6):c.628-874C>T http://identifiers.org/clinvar/89545 ^@ NM_000179.2(MSH6):c.62A>G (p.Asn21Ser) http://identifiers.org/clinvar/89546 ^@ NM_000179.2(MSH6):c.642C>A (p.Tyr214Ter) http://identifiers.org/clinvar/89547 ^@ NM_000179.2(MSH6):c.642C>G (p.Tyr214Ter) http://identifiers.org/clinvar/89548 ^@ NM_000179.2(MSH6):c.648_649delAGinsTT (p.Asp217Tyr) http://identifiers.org/clinvar/89550 ^@ NM_000179.2(MSH6):c.652A>T (p.Lys218Ter) http://identifiers.org/clinvar/89551 ^@ NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) http://identifiers.org/clinvar/89552 ^@ NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) http://identifiers.org/clinvar/89553 ^@ NM_000179.2(MSH6):c.663A>G (p.Glu221=) http://identifiers.org/clinvar/89554 ^@ NM_000179.2(MSH6):c.668A>G (p.Asn223Ser) http://identifiers.org/clinvar/89555 ^@ NM_000179.2(MSH6):c.680G>T (p.Ser227Ile) http://identifiers.org/clinvar/89556 ^@ NM_000179.2(MSH6):c.694C>T (p.Gln232Ter) http://identifiers.org/clinvar/89557 ^@ NM_000179.2(MSH6):c.706C>T (p.Gln236Ter) http://identifiers.org/clinvar/89558 ^@ NM_000179.2(MSH6):c.710delG (p.Gly237Aspfs) http://identifiers.org/clinvar/89559 ^@ NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) http://identifiers.org/clinvar/89560 ^@ NM_000179.2(MSH6):c.730C>T (p.Gln244Ter) http://identifiers.org/clinvar/89561 ^@ NM_000179.2(MSH6):c.738_739insT (p.Lys247Terfs) http://identifiers.org/clinvar/89562 ^@ NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) http://identifiers.org/clinvar/89563 ^@ NM_000179.2(MSH6):c.742C>T (p.Arg248Ter) http://identifiers.org/clinvar/89564 ^@ NM_000179.2(MSH6):c.751A>G (p.Ile251Val) http://identifiers.org/clinvar/89565 ^@ NM_000179.2(MSH6):c.753A>G (p.Ile251Met) http://identifiers.org/clinvar/89566 ^@ NM_000179.2(MSH6):c.755C>G (p.Ser252Ter) http://identifiers.org/clinvar/89567 ^@ NM_000179.2(MSH6):c.762_763delTG (p.Ser256Terfs) http://identifiers.org/clinvar/89568 ^@ NM_000179.2(MSH6):c.806C>G (p.Thr269Ser) http://identifiers.org/clinvar/89569 ^@ NM_000179.2(MSH6):c.814G>T (p.Glu272Ter) http://identifiers.org/clinvar/89570 ^@ NM_000179.2(MSH6):c.845dupT (p.Asp284Glyfs) http://identifiers.org/clinvar/89571 ^@ NM_000179.2(MSH6):c.854G>T (p.Ser285Ile) http://identifiers.org/clinvar/89572 ^@ NM_000179.2(MSH6):c.866_867delGCinsAA (p.Gly289Glu) http://identifiers.org/clinvar/89573 ^@ NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) http://identifiers.org/clinvar/89574 ^@ NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) http://identifiers.org/clinvar/89575 ^@ NM_000179.2(MSH6):c.977C>T (p.Ala326Val) http://identifiers.org/clinvar/89576 ^@ NM_000249.3(MLH1):c.(?_-198)_(*193_?)del http://identifiers.org/clinvar/89577 ^@ NM_000249.3(MLH1):c.(?_-198)_116+?del http://identifiers.org/clinvar/89578 ^@ NM_000249.3(MLH1):c.(?_-198)_116+?dup http://identifiers.org/clinvar/89579 ^@ NM_000249.3(MLH1):c.(?_-198)_1558+?del http://identifiers.org/clinvar/89580 ^@ MLH1:c.(?_-198)_207+?del http://identifiers.org/clinvar/89581 ^@ MLH1:c.(?_-198)_306+?del http://identifiers.org/clinvar/89582 ^@ NM_000249.3(MLH1):c.(?_-198)_545+?del http://identifiers.org/clinvar/89583 ^@ NM_000249.3(MLH1):c.(?_-198)_884+?del http://identifiers.org/clinvar/89584 ^@ NM_000249.3(MLH1):c.*167T>A http://identifiers.org/clinvar/89585 ^@ NM_000249.3(MLH1):c.*2926C>T http://identifiers.org/clinvar/89586 ^@ NM_000249.3(MLH1):c.*3A>G http://identifiers.org/clinvar/89587 ^@ NM_000249.3(MLH1):c.-107C>G http://identifiers.org/clinvar/89588 ^@ NM_000249.3(MLH1):c.-269C>G http://identifiers.org/clinvar/89589 ^@ NM_000249.3(MLH1):c.-27C>A http://identifiers.org/clinvar/89590 ^@ NM_000249.3(MLH1):c.-28A>G http://identifiers.org/clinvar/89591 ^@ NM_000249.3(MLH1):c.-28A>T http://identifiers.org/clinvar/89592 ^@ NM_000249.3(MLH1):c.-381_207+606del http://identifiers.org/clinvar/89593 ^@ NM_000249.3(MLH1):c.-42C>T http://identifiers.org/clinvar/89594 ^@ NM_000249.3(MLH1):c.-4864C>A http://identifiers.org/clinvar/89595 ^@ NM_000249.3(MLH1):c.-53G>T http://identifiers.org/clinvar/89596 ^@ NM_000249.3(MLH1):c.-54519_1731+2263del http://identifiers.org/clinvar/89597 ^@ NM_000249.3(MLH1):c.-64G>T http://identifiers.org/clinvar/89598 ^@ NM_000249.3(MLH1):c.-73960_*46597del http://identifiers.org/clinvar/89599 ^@ NM_000249.3(MLH1):c.-7C>T http://identifiers.org/clinvar/89600 ^@ NM_000249.3(MLH1):c.-93G>A http://identifiers.org/clinvar/89601 ^@ NM_000249.3(MLH1):c.1003C>T (p.Leu335=) http://identifiers.org/clinvar/89602 ^@ NM_000249.3(MLH1):c.1007delG (p.Gly336Alafs) http://identifiers.org/clinvar/89603 ^@ NM_000249.3(MLH1):c.1011delC (p.Asn338Ilefs) http://identifiers.org/clinvar/89604 ^@ NM_000249.3(MLH1):c.1011dupC (p.Asn338Glnfs) http://identifiers.org/clinvar/89605 ^@ NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) http://identifiers.org/clinvar/89606 ^@ NM_000249.3(MLH1):c.1017delC (p.Ser340Profs) http://identifiers.org/clinvar/89607 ^@ NM_000249.3(MLH1):c.1023delG (p.Met342Cysfs) http://identifiers.org/clinvar/89608 ^@ NM_000249.3(MLH1):c.1026dupG (p.Tyr343Valfs) http://identifiers.org/clinvar/89609 ^@ NM_000249.3(MLH1):c.102_103delGA (p.Glu34Aspfs) http://identifiers.org/clinvar/89610 ^@ NM_000249.3(MLH1):c.1037A>G (p.Gln346Arg) http://identifiers.org/clinvar/89611 ^@ NM_000249.3(MLH1):c.1038+1005G>T http://identifiers.org/clinvar/89612 ^@ NM_000249.3(MLH1):c.1038+19C>T http://identifiers.org/clinvar/89613 ^@ NM_000249.3(MLH1):c.1038+1G>C http://identifiers.org/clinvar/89614 ^@ NM_000249.3(MLH1):c.1038+51C>T http://identifiers.org/clinvar/89615 ^@ NM_000249.3(MLH1):c.1038+86T>C http://identifiers.org/clinvar/89616 ^@ NM_000249.3(MLH1):c.1038G>A (p.Gln346=) http://identifiers.org/clinvar/89617 ^@ NM_000249.3(MLH1):c.1038G>C (p.Gln346His) http://identifiers.org/clinvar/89618 ^@ NM_000249.3(MLH1):c.1038G>T (p.Gln346His) http://identifiers.org/clinvar/89619 ^@ NM_000249.3(MLH1):c.1039-1G>A http://identifiers.org/clinvar/89620 ^@ NM_000249.3(MLH1):c.1039-2329_1409+827del http://identifiers.org/clinvar/89621 ^@ NM_000249.3(MLH1):c.1039-2A>G http://identifiers.org/clinvar/89622 ^@ NM_000249.3(MLH1):c.1039-2A>T http://identifiers.org/clinvar/89623 ^@ NM_000249.3(MLH1):c.1039-33_1039-29del http://identifiers.org/clinvar/89624 ^@ NM_000249.3(MLH1):c.1039-675_1409+26del http://identifiers.org/clinvar/89625 ^@ NM_000249.3(MLH1):c.1039-78A>G http://identifiers.org/clinvar/89626 ^@ NM_000249.3(MLH1):c.1039-?_(*193_?)del http://identifiers.org/clinvar/89627 ^@ NM_000249.3(MLH1):c.1039-?_1409+?del http://identifiers.org/clinvar/89628 ^@ NM_000249.3(MLH1):c.1039-?_1558+?del http://identifiers.org/clinvar/89629 ^@ NM_000249.3(MLH1):c.1040C>A (p.Thr347Asn) http://identifiers.org/clinvar/89630 ^@ NM_000249.3(MLH1):c.1046dupT (p.Pro350Thrfs) http://identifiers.org/clinvar/89631 ^@ NM_000249.3(MLH1):c.104T>G (p.Met35Arg) http://identifiers.org/clinvar/89632 ^@ NM_000249.3(MLH1):c.104_105insAA (p.Met35Ilefs) http://identifiers.org/clinvar/89633 ^@ NM_000249.3(MLH1):c.1050delA (p.Gly351Aspfs) http://identifiers.org/clinvar/89634 ^@ NM_000249.3(MLH1):c.1058C>T (p.Ala353Val) http://identifiers.org/clinvar/89635 ^@ NM_000249.3(MLH1):c.1061delG (p.Gly354Alafs) http://identifiers.org/clinvar/89636 ^@ NM_000249.3(MLH1):c.1071_1078delGGAGATGG (p.Glu358Terfs) http://identifiers.org/clinvar/89637 ^@ NM_000249.3(MLH1):c.1072delG (p.Glu358Argfs) http://identifiers.org/clinvar/89638 ^@ NM_000249.3(MLH1):c.107T>A (p.Ile36Asn) http://identifiers.org/clinvar/89639 ^@ NM_000249.3(MLH1):c.1090A>G (p.Thr364Ala) http://identifiers.org/clinvar/89640 ^@ NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) http://identifiers.org/clinvar/89641 ^@ NM_000249.3(MLH1):c.109G>T (p.Glu37Ter) http://identifiers.org/clinvar/89642 ^@ NM_000249.3(MLH1):c.1101delC (p.Ser368Argfs) http://identifiers.org/clinvar/89643 ^@ NM_000249.3(MLH1):c.1128T>C (p.Asp376=) http://identifiers.org/clinvar/89644 ^@ NM_000249.3(MLH1):c.1128_1129dupTA (p.Lys377Ilefs) http://identifiers.org/clinvar/89645 ^@ NM_000249.3(MLH1):c.112A>C (p.Asn38His) http://identifiers.org/clinvar/89646 ^@ NM_000249.3(MLH1):c.112A>G (p.Asn38Asp) http://identifiers.org/clinvar/89647 ^@ NM_000249.3(MLH1):c.1132_1134delGTCinsA (p.Val378Ilefs) http://identifiers.org/clinvar/89648 ^@ NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) http://identifiers.org/clinvar/89649 ^@ NM_000249.3(MLH1):c.1141C>T (p.His381Tyr) http://identifiers.org/clinvar/89650 ^@ NM_000249.3(MLH1):c.1145dupA (p.Met383Aspfs) http://identifiers.org/clinvar/89651 ^@ NM_000249.3(MLH1):c.114C>G (p.Asn38Lys) http://identifiers.org/clinvar/89652 ^@ NM_000249.3(MLH1):c.1150delG (p.Val384Phefs) http://identifiers.org/clinvar/89653 ^@ NM_000249.3(MLH1):c.1153C>T (p.Arg385Cys) http://identifiers.org/clinvar/89654 ^@ NM_000249.3(MLH1):c.1154G>C (p.Arg385Pro) http://identifiers.org/clinvar/89655 ^@ NM_000249.3(MLH1):c.115T>C (p.Cys39Arg) http://identifiers.org/clinvar/89656 ^@ NM_000249.3(MLH1):c.116+1G>A http://identifiers.org/clinvar/89657 ^@ NM_000249.3(MLH1):c.116+56C>G http://identifiers.org/clinvar/89658 ^@ NM_000249.3(MLH1):c.116+5G>C http://identifiers.org/clinvar/89659 ^@ NM_000249.3(MLH1):c.116+63T>G http://identifiers.org/clinvar/89660 ^@ NM_000249.3(MLH1):c.1163_1164ins4 http://identifiers.org/clinvar/89661 ^@ NM_000249.3(MLH1):c.1165C>T (p.Arg389Trp) http://identifiers.org/clinvar/89662 ^@ NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) http://identifiers.org/clinvar/89663 ^@ NM_000249.3(MLH1):c.116G>T (p.Cys39Phe) http://identifiers.org/clinvar/89664 ^@ NM_000249.3(MLH1):c.117-11T>A http://identifiers.org/clinvar/89665 ^@ NM_000249.3(MLH1):c.117-43_117-39del http://identifiers.org/clinvar/89666 ^@ NM_000249.3(MLH1):c.117-691_306+1011del http://identifiers.org/clinvar/89667 ^@ NM_000249.3(MLH1):c.117-707_545+1338delinsTCCCGGGTTCAAGCGATTCT http://identifiers.org/clinvar/89668 ^@ NM_000249.3(MLH1):c.117-?_207+?del http://identifiers.org/clinvar/89669 ^@ NM_000249.3(MLH1):c.117-?_306+?dup http://identifiers.org/clinvar/89670 ^@ NM_000249.3(MLH1):c.117-?_380+?del http://identifiers.org/clinvar/89671 ^@ NM_000249.3(MLH1):c.117-?_545+?del http://identifiers.org/clinvar/89672 ^@ NM_000249.3(MLH1):c.1171C>T (p.Gln391Ter) http://identifiers.org/clinvar/89673 ^@ NM_000249.3(MLH1):c.1190delT (p.Leu397Argfs) http://identifiers.org/clinvar/89674 ^@ NM_000249.3(MLH1):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/89675 ^@ NM_000249.3(MLH1):c.1198C>G (p.Leu400Val) http://identifiers.org/clinvar/89676 ^@ NM_000249.3(MLH1):c.119delT (p.Leu40Terfs) http://identifiers.org/clinvar/89677 ^@ NM_000249.3(MLH1):c.1207C>T (p.Pro403Ser) http://identifiers.org/clinvar/89678 ^@ NM_000249.3(MLH1):c.1210_1211delCT (p.Leu404Valfs) http://identifiers.org/clinvar/89679 ^@ NM_000249.3(MLH1):c.1210dupC (p.Leu404Profs) http://identifiers.org/clinvar/89680 ^@ NM_000249.3(MLH1):c.1217_1223dupGTCAGCC (p.Gln409Serfs) http://identifiers.org/clinvar/89681 ^@ NM_000249.3(MLH1):c.1218delT (p.Gln407Serfs) http://identifiers.org/clinvar/89682 ^@ NM_000249.3(MLH1):c.121G>C (p.Asp41His) http://identifiers.org/clinvar/89683 ^@ NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) http://identifiers.org/clinvar/89684 ^@ NM_000249.3(MLH1):c.122A>G (p.Asp41Gly) http://identifiers.org/clinvar/89685 ^@ NM_000249.3(MLH1):c.1246A>G (p.Lys416Glu) http://identifiers.org/clinvar/89686 ^@ NM_000249.3(MLH1):c.1252_1253delGA (p.Asp418Tyrfs) http://identifiers.org/clinvar/89687 ^@ NM_000249.3(MLH1):c.1259C>G (p.Ser420Cys) http://identifiers.org/clinvar/89688 ^@ NM_000249.3(MLH1):c.125C>T (p.Ala42Val) http://identifiers.org/clinvar/89689 ^@ NM_000249.3(MLH1):c.1261delA (p.Ser421Valfs) http://identifiers.org/clinvar/89690 ^@ NM_000249.3(MLH1):c.1266C>T (p.Gly422=) http://identifiers.org/clinvar/89691 ^@ NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) http://identifiers.org/clinvar/89692 ^@ NM_000249.3(MLH1):c.128_131dupAATC (p.Thr45Ilefs) http://identifiers.org/clinvar/89693 ^@ NM_000249.3(MLH1):c.1297G>C (p.Glu433Gln) http://identifiers.org/clinvar/89694 ^@ NM_000249.3(MLH1):c.1304C>T (p.Pro435Leu) http://identifiers.org/clinvar/89695 ^@ NM_000249.3(MLH1):c.1310delC (p.Pro437Leufs) http://identifiers.org/clinvar/89696 ^@ NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) http://identifiers.org/clinvar/89697 ^@ NM_000249.3(MLH1):c.1325_1346del22ins5 http://identifiers.org/clinvar/89698 ^@ NM_000249.3(MLH1):c.1327A>C (p.Lys443Gln) http://identifiers.org/clinvar/89699 ^@ NM_000249.3(MLH1):c.1334delA (p.Gln445Argfs) http://identifiers.org/clinvar/89700 ^@ NM_000249.3(MLH1):c.133_139delACAAGTAinsTGTT (p.Thr45_Ile47delinsCysPhe) http://identifiers.org/clinvar/89701 ^@ NM_000249.3(MLH1):c.1343delA (p.Glu448Glyfs) http://identifiers.org/clinvar/89702 ^@ NM_000249.3(MLH1):c.1347_1367del21insTAAA (p.Asp450Lysfs) http://identifiers.org/clinvar/89703 ^@ NM_000249.3(MLH1):c.1348dupG (p.Asp450Glyfs) http://identifiers.org/clinvar/89704 ^@ NM_000249.3(MLH1):c.1354delA (p.Thr452Glnfs) http://identifiers.org/clinvar/89705 ^@ NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) http://identifiers.org/clinvar/89706 ^@ NM_000249.3(MLH1):c.1362delG (p.Thr455Leufs) http://identifiers.org/clinvar/89707 ^@ NM_000249.3(MLH1):c.1362dupG (p.Thr455Aspfs) http://identifiers.org/clinvar/89708 ^@ NM_000249.3(MLH1):c.1377delA (p.Glu460Argfs) http://identifiers.org/clinvar/89709 ^@ NM_000249.3(MLH1):c.1377dupA (p.Glu460Argfs) http://identifiers.org/clinvar/89710 ^@ NM_000249.3(MLH1):c.137G>T (p.Ser46Ile) http://identifiers.org/clinvar/89711 ^@ NM_000249.3(MLH1):c.1380_1381delGA (p.Lys461Glufs) http://identifiers.org/clinvar/89712 ^@ NM_000249.3(MLH1):c.1392T>C (p.Pro464=) http://identifiers.org/clinvar/89713 ^@ NM_000249.3(MLH1):c.1398delC (p.Ser467Alafs) http://identifiers.org/clinvar/89714 ^@ NM_000249.3(MLH1):c.1401C>T (p.Ser467=) http://identifiers.org/clinvar/89715 ^@ NM_000249.3(MLH1):c.1402A>G (p.Asn468Asp) http://identifiers.org/clinvar/89716 ^@ NM_000249.3(MLH1):c.1409+1127_1558+4255del http://identifiers.org/clinvar/89717 ^@ NM_000249.3(MLH1):c.1409+1156_1558+1385del http://identifiers.org/clinvar/89718 ^@ NM_000249.3(MLH1):c.1409+1G>A http://identifiers.org/clinvar/89719 ^@ NM_000249.3(MLH1):c.1409+1G>C http://identifiers.org/clinvar/89720 ^@ NM_000249.3(MLH1):c.1409+2T>G http://identifiers.org/clinvar/89721 ^@ NM_000249.3(MLH1):c.1410-23G>T http://identifiers.org/clinvar/89722 ^@ NM_000249.3(MLH1):c.1410-54C>T http://identifiers.org/clinvar/89723 ^@ NM_000249.3(MLH1):c.1410-55G>T http://identifiers.org/clinvar/89724 ^@ NM_000249.3(MLH1):c.1410-?_(*193_?)del http://identifiers.org/clinvar/89725 ^@ NM_000249.3(MLH1):c.1410-?_1558+?del http://identifiers.org/clinvar/89726 ^@ NM_000249.3(MLH1):c.1410-?_1731+?del http://identifiers.org/clinvar/89727 ^@ NM_000249.3(MLH1):c.1411_1414delAAGA (p.Lys471Aspfs) http://identifiers.org/clinvar/89728 ^@ NM_000249.3(MLH1):c.1412dupA (p.Arg472Glufs) http://identifiers.org/clinvar/89729 ^@ NM_000249.3(MLH1):c.1413G>A (p.Lys471=) http://identifiers.org/clinvar/89730 ^@ NM_000249.3(MLH1):c.1413_1416delGAGA (p.Lys471Asnfs) http://identifiers.org/clinvar/89731 ^@ NM_000249.3(MLH1):c.1414dupA (p.Arg472Lysfs) http://identifiers.org/clinvar/89732 ^@ NM_000249.3(MLH1):c.1415G>T (p.Arg472Ile) http://identifiers.org/clinvar/89733 ^@ NM_000249.3(MLH1):c.1415_1416delGA (p.Arg472Thrfs) http://identifiers.org/clinvar/89734 ^@ NM_000249.3(MLH1):c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs) http://identifiers.org/clinvar/89735 ^@ NM_000249.3(MLH1):c.1420C>T (p.Arg474Trp) http://identifiers.org/clinvar/89736 ^@ NM_000249.3(MLH1):c.1420delC (p.Arg474Glyfs) http://identifiers.org/clinvar/89737 ^@ NM_000249.3(MLH1):c.1421G>A (p.Arg474Gln) http://identifiers.org/clinvar/89738 ^@ NM_000249.3(MLH1):c.142C>T (p.Gln48Ter) http://identifiers.org/clinvar/89739 ^@ NM_000249.3(MLH1):c.143A>C (p.Gln48Pro) http://identifiers.org/clinvar/89740 ^@ NM_000249.3(MLH1):c.1449delA (p.Asp484Metfs) http://identifiers.org/clinvar/89741 ^@ NM_000249.3(MLH1):c.1452T>C (p.Asp484=) http://identifiers.org/clinvar/89742 ^@ NM_000249.3(MLH1):c.1453G>C (p.Asp485His) http://identifiers.org/clinvar/89743 ^@ NM_000249.3(MLH1):c.1455T>A (p.Asp485Glu) http://identifiers.org/clinvar/89744 ^@ NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) http://identifiers.org/clinvar/89745 ^@ NM_000249.3(MLH1):c.1460G>A (p.Arg487Gln) http://identifiers.org/clinvar/89746 ^@ NM_000249.3(MLH1):c.1462A>T (p.Lys488Ter) http://identifiers.org/clinvar/89747 ^@ NM_000249.3(MLH1):c.1463delA (p.Lys488Argfs) http://identifiers.org/clinvar/89748 ^@ NM_000249.3(MLH1):c.1464_1468delGGAAA (p.Lys488Asnfs) http://identifiers.org/clinvar/89749 ^@ NM_000249.3(MLH1):c.146T>A (p.Val49Glu) http://identifiers.org/clinvar/89750 ^@ NM_000249.3(MLH1):c.1474G>A (p.Ala492Thr) http://identifiers.org/clinvar/89751 ^@ NM_000249.3(MLH1):c.1487C>G (p.Pro496Arg) http://identifiers.org/clinvar/89752 ^@ NM_000249.3(MLH1):c.1489delC (p.Arg497Glyfs) http://identifiers.org/clinvar/89753 ^@ NM_000249.3(MLH1):c.1489dupC (p.Arg497Profs) http://identifiers.org/clinvar/89754 ^@ NM_000249.3(MLH1):c.1491delG (p.Arg498Glufs) http://identifiers.org/clinvar/89755 ^@ NM_000249.3(MLH1):c.1500_1502delCAT (p.Ile501del) http://identifiers.org/clinvar/89756 ^@ NM_000249.3(MLH1):c.150dupT (p.Val51Cysfs) http://identifiers.org/clinvar/89757 ^@ NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) http://identifiers.org/clinvar/89758 ^@ NM_000249.3(MLH1):c.1520delT (p.Leu507Terfs) http://identifiers.org/clinvar/89759 ^@ NM_000249.3(MLH1):c.1520dupT (p.Leu507Phefs) http://identifiers.org/clinvar/89760 ^@ NM_000249.3(MLH1):c.1525C>T (p.Leu509Phe) http://identifiers.org/clinvar/89761 ^@ NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) http://identifiers.org/clinvar/89762 ^@ NM_000249.3(MLH1):c.1534G>T (p.Glu512Ter) http://identifiers.org/clinvar/89763 ^@ NM_000249.3(MLH1):c.153dupT (p.Lys52Terfs) http://identifiers.org/clinvar/89764 ^@ NM_000249.3(MLH1):c.1542dupT (p.Glu515Terfs) http://identifiers.org/clinvar/89765 ^@ NM_000249.3(MLH1):c.1549G>T (p.Gly517Ter) http://identifiers.org/clinvar/89766 ^@ NM_000249.3(MLH1):c.1552_1553insT (p.His518Leufs) http://identifiers.org/clinvar/89767 ^@ NM_000249.3(MLH1):c.1552delC (p.His518Metfs) http://identifiers.org/clinvar/89768 ^@ NM_000249.3(MLH1):c.1554dupT (p.Glu519Terfs) http://identifiers.org/clinvar/89769 ^@ NM_000249.3(MLH1):c.1557_1558insT (p.Val520Cysfs) http://identifiers.org/clinvar/89770 ^@ NM_000249.3(MLH1):c.1558+11G>A http://identifiers.org/clinvar/89771 ^@ NM_000249.3(MLH1):c.1558+13T>A http://identifiers.org/clinvar/89772 ^@ NM_000249.3(MLH1):c.1558+1G>T http://identifiers.org/clinvar/89773 ^@ NM_000249.3(MLH1):c.1558+2204A>C http://identifiers.org/clinvar/89774 ^@ NM_000249.3(MLH1):c.1558+2T>G http://identifiers.org/clinvar/89775 ^@ NM_000249.3(MLH1):c.1558+3232_1558+3692delins2 http://identifiers.org/clinvar/89776 ^@ NM_000249.3(MLH1):c.1558+4245A>G http://identifiers.org/clinvar/89777 ^@ NM_000249.3(MLH1):c.1558+58G>A http://identifiers.org/clinvar/89778 ^@ NM_000249.3(MLH1):c.1559-1322_1668-391del http://identifiers.org/clinvar/89779 ^@ NM_000249.3(MLH1):c.1559-1G>A http://identifiers.org/clinvar/89780 ^@ NM_000249.3(MLH1):c.1559-1G>C http://identifiers.org/clinvar/89781 ^@ NM_000249.3(MLH1):c.1559-1G>T http://identifiers.org/clinvar/89782 ^@ NM_000249.3(MLH1):c.1559-2A>C http://identifiers.org/clinvar/89783 ^@ NM_000249.3(MLH1):c.1559-2A>G http://identifiers.org/clinvar/89784 ^@ NM_000249.3(MLH1):c.1559-2A>T http://identifiers.org/clinvar/89785 ^@ NM_000249.3(MLH1):c.1559-3171A>G http://identifiers.org/clinvar/89786 ^@ NM_000249.3(MLH1):c.1559-3C>G http://identifiers.org/clinvar/89787 ^@ NM_000249.3(MLH1):c.1559-?_(*193_?)del http://identifiers.org/clinvar/89788 ^@ NM_000249.3(MLH1):c.1559-?_1667+?del http://identifiers.org/clinvar/89789 ^@ NM_000249.3(MLH1):c.1559-?_1731+?del http://identifiers.org/clinvar/89790 ^@ NM_000249.3(MLH1):c.155_158delAAGA (p.Lys52Argfs) http://identifiers.org/clinvar/89791 ^@ NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) http://identifiers.org/clinvar/89792 ^@ NM_000249.3(MLH1):c.1569G>T (p.Glu523Asp) http://identifiers.org/clinvar/89793 ^@ NM_000249.3(MLH1):c.156delA (p.Glu53Argfs) http://identifiers.org/clinvar/89794 ^@ NM_000249.3(MLH1):c.156dupA (p.Glu53Argfs) http://identifiers.org/clinvar/89795 ^@ NM_000249.3(MLH1):c.1572_1573delGT (p.Met524Ilefs) http://identifiers.org/clinvar/89796 ^@ NM_000249.3(MLH1):c.1573_1574delTT (p.Leu525Alafs) http://identifiers.org/clinvar/89797 ^@ NM_000249.3(MLH1):c.1574T>A (p.Leu525Ter) http://identifiers.org/clinvar/89798 ^@ NM_000249.3(MLH1):c.1588_1590delTTC (p.Phe530del) http://identifiers.org/clinvar/89799 ^@ NM_000249.3(MLH1):c.1592_1593delTG (p.Val531Glyfs) http://identifiers.org/clinvar/89800 ^@ NM_000249.3(MLH1):c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs) http://identifiers.org/clinvar/89801 ^@ NM_000249.3(MLH1):c.1609C>T (p.Gln537Ter) http://identifiers.org/clinvar/89802 ^@ NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) http://identifiers.org/clinvar/89803 ^@ NM_000249.3(MLH1):c.1614G>A (p.Trp538Ter) http://identifiers.org/clinvar/89804 ^@ NM_000249.3(MLH1):c.1616C>A (p.Ala539Asp) http://identifiers.org/clinvar/89805 ^@ NM_000249.3(MLH1):c.161_164delGAGG (p.Gly54Alafs) http://identifiers.org/clinvar/89806 ^@ NM_000249.3(MLH1):c.161delG (p.Gly54Glufs) http://identifiers.org/clinvar/89807 ^@ NM_000249.3(MLH1):c.1620_1621delGG (p.Leu540Phefs) http://identifiers.org/clinvar/89808 ^@ NM_000249.3(MLH1):c.1622delC (p.Ala541Aspfs) http://identifiers.org/clinvar/89809 ^@ NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) http://identifiers.org/clinvar/89810 ^@ NM_000249.3(MLH1):c.1625A>C (p.Gln542Pro) http://identifiers.org/clinvar/89811 ^@ NM_000249.3(MLH1):c.1625A>T (p.Gln542Leu) http://identifiers.org/clinvar/89812 ^@ NM_000249.3(MLH1):c.1633A>G (p.Thr545Ala) http://identifiers.org/clinvar/89813 ^@ NM_000249.3(MLH1):c.1639_1643dupTTATA (p.Leu549Tyrfs) http://identifiers.org/clinvar/89814 ^@ NM_000249.3(MLH1):c.1640T>A (p.Leu547Ter) http://identifiers.org/clinvar/89815 ^@ NM_000249.3(MLH1):c.1644C>G (p.Tyr548Ter) http://identifiers.org/clinvar/89816 ^@ NM_000249.3(MLH1):c.1646T>C (p.Leu549Pro) http://identifiers.org/clinvar/89817 ^@ NM_000249.3(MLH1):c.1647_1649dupTCT (p.Leu550_Asn551insLeu) http://identifiers.org/clinvar/89818 ^@ NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) http://identifiers.org/clinvar/89819 ^@ NM_000249.3(MLH1):c.1652A>C (p.Asn551Thr) http://identifiers.org/clinvar/89820 ^@ NM_000249.3(MLH1):c.1653C>T (p.Asn551=) http://identifiers.org/clinvar/89821 ^@ NM_000249.3(MLH1):c.1658_1660delCCA (p.Thr553del) http://identifiers.org/clinvar/89822 ^@ NM_000249.3(MLH1):c.1664T>C (p.Leu555Pro) http://identifiers.org/clinvar/89823 ^@ NM_000249.3(MLH1):c.1664_1665insAAGT (p.Glu557Terfs) http://identifiers.org/clinvar/89824 ^@ NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT http://identifiers.org/clinvar/89825 ^@ NM_000249.3(MLH1):c.1667G>T (p.Ser556Ile) http://identifiers.org/clinvar/89826 ^@ NM_000249.3(MLH1):c.1668-1G>A http://identifiers.org/clinvar/89827 ^@ NM_000249.3(MLH1):c.1668-1G>T http://identifiers.org/clinvar/89828 ^@ NM_000249.3(MLH1):c.1668-254C>T http://identifiers.org/clinvar/89829 ^@ NM_000249.3(MLH1):c.1668-3C>A http://identifiers.org/clinvar/89830 ^@ NM_000249.3(MLH1):c.1668-885T>C http://identifiers.org/clinvar/89831 ^@ NM_000249.3(MLH1):c.1668-?_1731+?del http://identifiers.org/clinvar/89832 ^@ NM_000249.3(MLH1):c.1668-?_1896+?del http://identifiers.org/clinvar/89833 ^@ NM_000249.3(MLH1):c.1668delT (p.Ser556Argfs) http://identifiers.org/clinvar/89834 ^@ NM_000249.3(MLH1):c.1669G>T (p.Glu557Ter) http://identifiers.org/clinvar/89835 ^@ NM_000249.3(MLH1):c.1672G>T (p.Glu558Ter) http://identifiers.org/clinvar/89836 ^@ NM_000249.3(MLH1):c.1676T>G (p.Leu559Arg) http://identifiers.org/clinvar/89837 ^@ NM_000249.3(MLH1):c.1681T>C (p.Tyr561His) http://identifiers.org/clinvar/89838 ^@ NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) http://identifiers.org/clinvar/89839 ^@ NM_000249.3(MLH1):c.1684C>T (p.Gln562Ter) http://identifiers.org/clinvar/89840 ^@ NM_000249.3(MLH1):c.1689dupA (p.Leu564Thrfs) http://identifiers.org/clinvar/89841 ^@ NM_000249.3(MLH1):c.1690_1693delCTCA (p.Leu564Phefs) http://identifiers.org/clinvar/89842 ^@ NM_000249.3(MLH1):c.1693A>T (p.Ile565Phe) http://identifiers.org/clinvar/89843 ^@ NM_000249.3(MLH1):c.1702T>A (p.Phe568Ile) http://identifiers.org/clinvar/89844 ^@ NM_000249.3(MLH1):c.1711T>C (p.Phe571Leu) http://identifiers.org/clinvar/89845 ^@ NM_000249.3(MLH1):c.1717_1718delGT (p.Val573Serfs) http://identifiers.org/clinvar/89846 ^@ NM_000249.3(MLH1):c.1721T>C (p.Leu574Pro) http://identifiers.org/clinvar/89847 ^@ NM_000249.3(MLH1):c.1725delG (p.Arg575Serfs) http://identifiers.org/clinvar/89848 ^@ NM_000249.3(MLH1):c.1731+1G>A http://identifiers.org/clinvar/89849 ^@ NM_000249.3(MLH1):c.1731+1G>C http://identifiers.org/clinvar/89850 ^@ NM_000249.3(MLH1):c.1731+1G>T http://identifiers.org/clinvar/89851 ^@ NM_000249.3(MLH1):c.1731+270_1896+73del http://identifiers.org/clinvar/89852 ^@ NM_000249.3(MLH1):c.1731+2T>G http://identifiers.org/clinvar/89853 ^@ NM_000249.3(MLH1):c.1731+3A>T http://identifiers.org/clinvar/89854 ^@ NM_000249.3(MLH1):c.1731+5G>A http://identifiers.org/clinvar/89855 ^@ NM_000249.3(MLH1):c.1731+6T>G http://identifiers.org/clinvar/89856 ^@ NM_000249.3(MLH1):c.1731+768_1897-222del http://identifiers.org/clinvar/89857 ^@ NM_000249.3(MLH1):c.1731G>A (p.Ser577=) http://identifiers.org/clinvar/89858 ^@ NM_000249.3(MLH1):c.1731G>C (p.Ser577=) http://identifiers.org/clinvar/89859 ^@ NM_000249.3(MLH1):c.1732-1G>A http://identifiers.org/clinvar/89860 ^@ NM_000249.3(MLH1):c.1732-2243_1896+404del http://identifiers.org/clinvar/89861 ^@ NM_000249.3(MLH1):c.1732-2A>G http://identifiers.org/clinvar/89862 ^@ NM_000249.3(MLH1):c.1732-2A>T http://identifiers.org/clinvar/89863 ^@ NM_000249.3(MLH1):c.1732-5C>T http://identifiers.org/clinvar/89864 ^@ NM_000249.3(MLH1):c.1732-9T>C http://identifiers.org/clinvar/89865 ^@ NM_000249.3(MLH1):c.1732-?_(*193_?)del http://identifiers.org/clinvar/89866 ^@ NM_000249.3(MLH1):c.1732-?_1896+?del http://identifiers.org/clinvar/89867 ^@ NM_000249.3(MLH1):c.1732-?_2103+?del http://identifiers.org/clinvar/89868 ^@ NM_000249.3(MLH1):c.1743G>C (p.Pro581=) http://identifiers.org/clinvar/89869 ^@ NM_000249.3(MLH1):c.1744C>G (p.Leu582Val) http://identifiers.org/clinvar/89870 ^@ NM_000249.3(MLH1):c.1744C>T (p.Leu582Phe) http://identifiers.org/clinvar/89871 ^@ NM_000249.3(MLH1):c.1745T>C (p.Leu582Pro) http://identifiers.org/clinvar/89872 ^@ NM_000249.3(MLH1):c.1745delT (p.Leu582Profs) http://identifiers.org/clinvar/89873 ^@ NM_000249.3(MLH1):c.1748_1749delTT (p.Phe583Terfs) http://identifiers.org/clinvar/89874 ^@ NM_000249.3(MLH1):c.1749delT (p.Phe583Leufs) http://identifiers.org/clinvar/89875 ^@ NM_000249.3(MLH1):c.1754T>G (p.Leu585Arg) http://identifiers.org/clinvar/89876 ^@ NM_000249.3(MLH1):c.1756G>C (p.Ala586Pro) http://identifiers.org/clinvar/89877 ^@ NM_000249.3(MLH1):c.1757C>A (p.Ala586Asp) http://identifiers.org/clinvar/89878 ^@ NM_000249.3(MLH1):c.1758delC (p.Met587Cysfs) http://identifiers.org/clinvar/89879 ^@ NM_000249.3(MLH1):c.1758dupC (p.Met587Hisfs) http://identifiers.org/clinvar/89880 ^@ NM_000249.3(MLH1):c.175dupA (p.Ile59Asnfs) http://identifiers.org/clinvar/89881 ^@ NM_000249.3(MLH1):c.1760T>C (p.Met587Thr) http://identifiers.org/clinvar/89882 ^@ NM_000249.3(MLH1):c.1763T>C (p.Leu588Pro) http://identifiers.org/clinvar/89883 ^@ NM_000249.3(MLH1):c.1764delT (p.Ala589Profs) http://identifiers.org/clinvar/89884 ^@ NM_000249.3(MLH1):c.1766C>A (p.Ala589Asp) http://identifiers.org/clinvar/89885 ^@ NM_000249.3(MLH1):c.1769delT (p.Leu590Terfs) http://identifiers.org/clinvar/89886 ^@ NM_000249.3(MLH1):c.1772_1775delATAG (p.Asp591Valfs) http://identifiers.org/clinvar/89887 ^@ NM_000249.3(MLH1):c.1778_1779delCA (p.Pro593Argfs) http://identifiers.org/clinvar/89888 ^@ NM_000249.3(MLH1):c.1783_1784delAG (p.Ser595Trpfs) http://identifiers.org/clinvar/89889 ^@ NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) http://identifiers.org/clinvar/89890 ^@ NM_000249.3(MLH1):c.1799A>G (p.Glu600Gly) http://identifiers.org/clinvar/89891 ^@ NM_000249.3(MLH1):c.1800_1818del19 (p.Glu600Aspfs) http://identifiers.org/clinvar/89892 ^@ NM_000249.3(MLH1):c.1802A>G (p.Asp601Gly) http://identifiers.org/clinvar/89893 ^@ NM_000249.3(MLH1):c.1810A>T (p.Lys604Ter) http://identifiers.org/clinvar/89894 ^@ NM_000249.3(MLH1):c.1812dupA (p.Glu605Argfs) http://identifiers.org/clinvar/89895 ^@ NM_000249.3(MLH1):c.1820T>A (p.Leu607His) http://identifiers.org/clinvar/89896 ^@ NM_000249.3(MLH1):c.1821dupT (p.Ala608Cysfs) http://identifiers.org/clinvar/89897 ^@ NM_000249.3(MLH1):c.1823C>A (p.Ala608Asp) http://identifiers.org/clinvar/89898 ^@ NM_000249.3(MLH1):c.1829_1832dupACAT (p.Val612Hisfs) http://identifiers.org/clinvar/89899 ^@ NM_000249.3(MLH1):c.1831_1832delAT (p.Ile611Cysfs) http://identifiers.org/clinvar/89900 ^@ NM_000249.3(MLH1):c.1835_1837delTTG (p.Val612del) http://identifiers.org/clinvar/89901 ^@ NM_000249.3(MLH1):c.184C>A (p.Gln62Lys) http://identifiers.org/clinvar/89902 ^@ NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) http://identifiers.org/clinvar/89903 ^@ NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) http://identifiers.org/clinvar/89904 ^@ NM_000249.3(MLH1):c.1852A>T (p.Lys618Ter) http://identifiers.org/clinvar/89906 ^@ NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) http://identifiers.org/clinvar/89907 ^@ NM_000249.3(MLH1):c.1853A>G (p.Lys618Arg) http://identifiers.org/clinvar/89908 ^@ NM_000249.3(MLH1):c.1853delAinsTTCTT (p.Lys618Ilefs) http://identifiers.org/clinvar/89909 ^@ NM_000249.3(MLH1):c.1855G>C (p.Ala619Pro) http://identifiers.org/clinvar/89910 ^@ NM_000249.3(MLH1):c.1855delG (p.Ala619Leufs) http://identifiers.org/clinvar/89911 ^@ NM_000249.3(MLH1):c.1865T>C (p.Leu622Pro) http://identifiers.org/clinvar/89912 ^@ NM_000249.3(MLH1):c.1866delT (p.Ala623Glnfs) http://identifiers.org/clinvar/89913 ^@ NM_000249.3(MLH1):c.1867G>T (p.Ala623Ser) http://identifiers.org/clinvar/89914 ^@ NM_000249.3(MLH1):c.1875T>G (p.Tyr625Ter) http://identifiers.org/clinvar/89915 ^@ NM_000249.3(MLH1):c.1877T>C (p.Phe626Ser) http://identifiers.org/clinvar/89916 ^@ NM_000249.3(MLH1):c.1877_1883delTCTCTTT (p.Phe626Trpfs) http://identifiers.org/clinvar/89917 ^@ NM_000249.3(MLH1):c.1877delT (p.Phe626Serfs) http://identifiers.org/clinvar/89918 ^@ NM_000249.3(MLH1):c.1878C>T (p.Phe626=) http://identifiers.org/clinvar/89919 ^@ NM_000249.3(MLH1):c.1879T>A (p.Ser627Thr) http://identifiers.org/clinvar/89920 ^@ NM_000249.3(MLH1):c.187G>A (p.Asp63Asn) http://identifiers.org/clinvar/89921 ^@ NM_000249.3(MLH1):c.1880_1883delCTTT (p.Ser627Trpfs) http://identifiers.org/clinvar/89922 ^@ NM_000249.3(MLH1):c.1884_1888delGGAAA (p.Leu628Phefs) http://identifiers.org/clinvar/89923 ^@ NM_000249.3(MLH1):c.1892A>C (p.Asp631Ala) http://identifiers.org/clinvar/89924 ^@ NM_000249.3(MLH1):c.1893delT (p.Asp631Glufs) http://identifiers.org/clinvar/89925 ^@ NM_000249.3(MLH1):c.1896+1G>A http://identifiers.org/clinvar/89926 ^@ NM_000249.3(MLH1):c.1896+1G>T http://identifiers.org/clinvar/89927 ^@ NM_000249.3(MLH1):c.1896+1delG http://identifiers.org/clinvar/89928 ^@ NM_000249.3(MLH1):c.1896+2T>C http://identifiers.org/clinvar/89929 ^@ NM_000249.3(MLH1):c.1896+36T>C http://identifiers.org/clinvar/89930 ^@ NM_000249.3(MLH1):c.1896G>A (p.Glu632=) http://identifiers.org/clinvar/89931 ^@ NM_000249.3(MLH1):c.1897-17C>G http://identifiers.org/clinvar/89932 ^@ NM_000249.3(MLH1):c.1897-2A>G http://identifiers.org/clinvar/89933 ^@ NM_000249.3(MLH1):c.1897-?_1989+?del http://identifiers.org/clinvar/89934 ^@ NM_000249.3(MLH1):c.189C>A (p.Asp63Glu) http://identifiers.org/clinvar/89935 ^@ NM_000249.3(MLH1):c.18_34del17 (p.Val7Argfs) http://identifiers.org/clinvar/89936 ^@ NM_000249.3(MLH1):c.1902delG (p.Asn635Thrfs) http://identifiers.org/clinvar/89937 ^@ NM_000249.3(MLH1):c.1904A>G (p.Asn635Ser) http://identifiers.org/clinvar/89938 ^@ NM_000249.3(MLH1):c.1904dupA (p.Asn635Lysfs) http://identifiers.org/clinvar/89939 ^@ NM_000249.3(MLH1):c.1905C>G (p.Asn635Lys) http://identifiers.org/clinvar/89940 ^@ NM_000249.3(MLH1):c.1907T>C (p.Leu636Pro) http://identifiers.org/clinvar/89941 ^@ NM_000249.3(MLH1):c.190_191delAA (p.Asn64Trpfs) http://identifiers.org/clinvar/89942 ^@ NM_000249.3(MLH1):c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs) http://identifiers.org/clinvar/89943 ^@ NM_000249.3(MLH1):c.1914_1942dup29 (p.Pro648Hisfs) http://identifiers.org/clinvar/89944 ^@ NM_000249.3(MLH1):c.1916dupT (p.Leu639Phefs) http://identifiers.org/clinvar/89945 ^@ NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) http://identifiers.org/clinvar/89946 ^@ NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) http://identifiers.org/clinvar/89947 ^@ NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) http://identifiers.org/clinvar/89948 ^@ NM_000249.3(MLH1):c.191dupA (p.Asn64Lysfs) http://identifiers.org/clinvar/89949 ^@ NM_000249.3(MLH1):c.1920_1921insT (p.Leu641Serfs) http://identifiers.org/clinvar/89950 ^@ NM_000249.3(MLH1):c.1930delG (p.Asp644Thrfs) http://identifiers.org/clinvar/89951 ^@ NM_000249.3(MLH1):c.1934A>G (p.Asn645Ser) http://identifiers.org/clinvar/89952 ^@ NM_000249.3(MLH1):c.1939G>A (p.Val647Met) http://identifiers.org/clinvar/89953 ^@ NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) http://identifiers.org/clinvar/89954 ^@ NM_000249.3(MLH1):c.1946delC (p.Pro649Leufs) http://identifiers.org/clinvar/89955 ^@ NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) http://identifiers.org/clinvar/89956 ^@ NM_000249.3(MLH1):c.1953_1956delGGGA (p.Glu651Aspfs) http://identifiers.org/clinvar/89957 ^@ NM_000249.3(MLH1):c.1958T>G (p.Leu653Arg) http://identifiers.org/clinvar/89958 ^@ NM_000249.3(MLH1):c.195delC (p.Thr66Profs) http://identifiers.org/clinvar/89959 ^@ NM_000249.3(MLH1):c.1961C>T (p.Pro654Leu) http://identifiers.org/clinvar/89960 ^@ NM_000249.3(MLH1):c.1967T>C (p.Phe656Ser) http://identifiers.org/clinvar/89961 ^@ NM_000249.3(MLH1):c.1971delT (p.Leu658Phefs) http://identifiers.org/clinvar/89962 ^@ NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) http://identifiers.org/clinvar/89963 ^@ NM_000249.3(MLH1):c.1975_1976delCG (p.Arg659Thrfs) http://identifiers.org/clinvar/89964 ^@ NM_000249.3(MLH1):c.1976G>A (p.Arg659Gln) http://identifiers.org/clinvar/89965 ^@ NM_000249.3(MLH1):c.1976G>C (p.Arg659Pro) http://identifiers.org/clinvar/89966 ^@ NM_000249.3(MLH1):c.1976G>T (p.Arg659Leu) http://identifiers.org/clinvar/89967 ^@ NM_000249.3(MLH1):c.1976_1977delGA (p.Arg659Profs) http://identifiers.org/clinvar/89968 ^@ NM_000249.3(MLH1):c.1984A>C (p.Thr662Pro) http://identifiers.org/clinvar/89969 ^@ NM_000249.3(MLH1):c.1986_1989+1delinsC http://identifiers.org/clinvar/89970 ^@ NM_000249.3(MLH1):c.1988A>C (p.Glu663Ala) http://identifiers.org/clinvar/89971 ^@ NM_000249.3(MLH1):c.1988A>G (p.Glu663Gly) http://identifiers.org/clinvar/89972 ^@ NM_000249.3(MLH1):c.1988delA (p.Glu663Glyfs) http://identifiers.org/clinvar/89973 ^@ NM_000249.3(MLH1):c.1989+1G>A http://identifiers.org/clinvar/89974 ^@ NM_000249.3(MLH1):c.1989+1G>C http://identifiers.org/clinvar/89975 ^@ NM_000249.3(MLH1):c.1989+1G>T http://identifiers.org/clinvar/89976 ^@ NM_000249.3(MLH1):c.1989+4A>G http://identifiers.org/clinvar/89977 ^@ NM_000249.3(MLH1):c.1989+5G>C http://identifiers.org/clinvar/89978 ^@ NM_000249.3(MLH1):c.1989+7dupG http://identifiers.org/clinvar/89979 ^@ NM_000249.3(MLH1):c.1989G>A (p.Glu663=) http://identifiers.org/clinvar/89980 ^@ NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) http://identifiers.org/clinvar/89981 ^@ NM_000249.3(MLH1):c.198C>T (p.Thr66=) http://identifiers.org/clinvar/89982 ^@ NM_000249.3(MLH1):c.198dupC (p.Gly67Argfs) http://identifiers.org/clinvar/89983 ^@ NM_000249.3(MLH1):c.1990-121C>T http://identifiers.org/clinvar/89984 ^@ NM_000249.3(MLH1):c.1990-16_1990-2del http://identifiers.org/clinvar/89985 ^@ NM_000249.3(MLH1):c.1990-1G>A http://identifiers.org/clinvar/89986 ^@ NM_000249.3(MLH1):c.1990-1G>T http://identifiers.org/clinvar/89987 ^@ NM_000249.3(MLH1):c.1990-2A>G http://identifiers.org/clinvar/89988 ^@ NM_000249.3(MLH1):c.1990-3C>G http://identifiers.org/clinvar/89989 ^@ NM_000249.3(MLH1):c.1990-?_(*193_?)del http://identifiers.org/clinvar/89990 ^@ NM_000249.3(MLH1):c.1996T>C (p.Trp666Arg) http://identifiers.org/clinvar/89991 ^@ NM_000249.3(MLH1):c.1998G>A (p.Trp666Ter) http://identifiers.org/clinvar/89992 ^@ NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) http://identifiers.org/clinvar/89993 ^@ NM_000249.3(MLH1):c.19_35del17 (p.Val7Argfs) http://identifiers.org/clinvar/89994 ^@ NM_000249.3(MLH1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/89995 ^@ NM_000249.3(MLH1):c.2000dupA (p.Asp667Glufs) http://identifiers.org/clinvar/89996 ^@ NM_000249.3(MLH1):c.2001C>T (p.Asp667=) http://identifiers.org/clinvar/89997 ^@ NM_000249.3(MLH1):c.2006_2010delAAAAG (p.Glu669Glyfs) http://identifiers.org/clinvar/89998 ^@ NM_000249.3(MLH1):c.2009delA (p.Lys670Argfs) http://identifiers.org/clinvar/89999 ^@ NM_000249.3(MLH1):c.2011G>T (p.Glu671Ter) http://identifiers.org/clinvar/90000 ^@ NM_000249.3(MLH1):c.201delG (p.Ile68Serfs) http://identifiers.org/clinvar/90001 ^@ NM_000249.3(MLH1):c.2027T>C (p.Leu676Pro) http://identifiers.org/clinvar/90002 ^@ NM_000249.3(MLH1):c.2027T>G (p.Leu676Arg) http://identifiers.org/clinvar/90003 ^@ NM_000249.3(MLH1):c.2028C>T (p.Leu676=) http://identifiers.org/clinvar/90004 ^@ NM_000249.3(MLH1):c.2030G>A (p.Ser677Asn) http://identifiers.org/clinvar/90005 ^@ NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) http://identifiers.org/clinvar/90006 ^@ NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) http://identifiers.org/clinvar/90007 ^@ NM_000249.3(MLH1):c.2038T>G (p.Cys680Gly) http://identifiers.org/clinvar/90008 ^@ NM_000249.3(MLH1):c.203T>A (p.Ile68Asn) http://identifiers.org/clinvar/90009 ^@ NM_000249.3(MLH1):c.2040C>A (p.Cys680Ter) http://identifiers.org/clinvar/90010 ^@ NM_000249.3(MLH1):c.2040C>T (p.Cys680=) http://identifiers.org/clinvar/90011 ^@ NM_000249.3(MLH1):c.2042C>T (p.Ala681Val) http://identifiers.org/clinvar/90012 ^@ NM_000249.3(MLH1):c.2048T>C (p.Phe683Ser) http://identifiers.org/clinvar/90013 ^@ NM_000249.3(MLH1):c.2051A>G (p.Tyr684Cys) http://identifiers.org/clinvar/90014 ^@ NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) http://identifiers.org/clinvar/90015 ^@ NM_000249.3(MLH1):c.205delA (p.Arg69Glyfs) http://identifiers.org/clinvar/90016 ^@ NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) http://identifiers.org/clinvar/90017 ^@ NM_000249.3(MLH1):c.2067_2073delGTACATA (p.Gln689Hisfs) http://identifiers.org/clinvar/90018 ^@ NM_000249.3(MLH1):c.207+1245_884+523dup http://identifiers.org/clinvar/90019 ^@ NM_000249.3(MLH1):c.207+1560_546-871del http://identifiers.org/clinvar/90020 ^@ NM_000249.3(MLH1):c.207+1G>A http://identifiers.org/clinvar/90021 ^@ NM_000249.3(MLH1):c.207+1G>T http://identifiers.org/clinvar/90022 ^@ NM_000249.3(MLH1):c.207+1_207+2del http://identifiers.org/clinvar/90023 ^@ NM_000249.3(MLH1):c.207+2T>C http://identifiers.org/clinvar/90024 ^@ NM_000249.3(MLH1):c.207+571C>T http://identifiers.org/clinvar/90025 ^@ NM_000249.3(MLH1):c.2076_2077delTG (p.Glu693Glyfs) http://identifiers.org/clinvar/90026 ^@ NM_000249.3(MLH1):c.2078_2172del (p.Glu693Alafs*8) http://identifiers.org/clinvar/90027 ^@ NM_000249.3(MLH1):c.208-15T>C http://identifiers.org/clinvar/90028 ^@ NM_000249.3(MLH1):c.208-1714_306+641delinsACATAGTA http://identifiers.org/clinvar/90029 ^@ NM_000249.3(MLH1):c.208-1G>A http://identifiers.org/clinvar/90030 ^@ NM_000249.3(MLH1):c.208-1_208del http://identifiers.org/clinvar/90031 ^@ NM_000249.3(MLH1):c.208-2A>G http://identifiers.org/clinvar/90032 ^@ NM_000249.3(MLH1):c.208-3C>G http://identifiers.org/clinvar/90033 ^@ NM_000249.3(MLH1):c.208-?_306+?del http://identifiers.org/clinvar/90034 ^@ NM_000249.3(MLH1):c.208-?_306+?dup http://identifiers.org/clinvar/90035 ^@ NM_000249.3(MLH1):c.208-?_453+?del http://identifiers.org/clinvar/90036 ^@ NM_000249.3(MLH1):c.208-?_545+?del http://identifiers.org/clinvar/90037 ^@ NM_000249.3(MLH1):c.208-?_790+?del http://identifiers.org/clinvar/90038 ^@ NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) http://identifiers.org/clinvar/90039 ^@ NM_000249.3(MLH1):c.2092_2093delTC (p.Ser698Argfs) http://identifiers.org/clinvar/90040 ^@ NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) http://identifiers.org/clinvar/90041 ^@ NM_000249.3(MLH1):c.2099_2102delAGCA (p.Gln700Argfs) http://identifiers.org/clinvar/90042 ^@ NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) http://identifiers.org/clinvar/90043 ^@ NM_000249.3(MLH1):c.2101C>T (p.Gln701Ter) http://identifiers.org/clinvar/90044 ^@ NM_000249.3(MLH1):c.2103+1G>A http://identifiers.org/clinvar/90045 ^@ NM_000249.3(MLH1):c.2103+1G>C http://identifiers.org/clinvar/90046 ^@ NM_000249.3(MLH1):c.2103+1G>T http://identifiers.org/clinvar/90047 ^@ NM_000249.3(MLH1):c.2103+3A>G http://identifiers.org/clinvar/90048 ^@ NM_000249.3(MLH1):c.2103G>A (p.Gln701=) http://identifiers.org/clinvar/90049 ^@ NM_000249.3(MLH1):c.2103G>C (p.Gln701His) http://identifiers.org/clinvar/90050 ^@ NM_000249.3(MLH1):c.2104-11G>A http://identifiers.org/clinvar/90051 ^@ NM_000249.3(MLH1):c.2104-11_2104-10delinsA http://identifiers.org/clinvar/90052 ^@ NM_000249.3(MLH1):c.2104-1G>T http://identifiers.org/clinvar/90053 ^@ NM_000249.3(MLH1):c.2104-22T>G http://identifiers.org/clinvar/90054 ^@ NM_000249.3(MLH1):c.2104-2A>G http://identifiers.org/clinvar/90055 ^@ NM_000249.3(MLH1):c.2104-2A>T http://identifiers.org/clinvar/90056 ^@ NM_000249.3(MLH1):c.2104-7T>G http://identifiers.org/clinvar/90057 ^@ NM_000249.3(MLH1):c.2104-?_*(193_?)del http://identifiers.org/clinvar/90058 ^@ NM_000249.3(MLH1):c.2104-?_*(193_?)dup http://identifiers.org/clinvar/90059 ^@ NM_000249.3(MLH1):c.2104_2105delAG (p.Ser702Terfs) http://identifiers.org/clinvar/90060 ^@ NM_000249.3(MLH1):c.2105_2114delGTGAAGTGCC (p.Ser702Metfs) http://identifiers.org/clinvar/90061 ^@ NM_000249.3(MLH1):c.210_213delAGAA (p.Glu71Ilefs) http://identifiers.org/clinvar/90062 ^@ NM_000249.3(MLH1):c.2111_2117delTGCCTGG (p.Val704Alafs) http://identifiers.org/clinvar/90063 ^@ NM_000249.3(MLH1):c.211G>T (p.Glu71Ter) http://identifiers.org/clinvar/90064 ^@ NM_000249.3(MLH1):c.2134T>A (p.Trp712Arg) http://identifiers.org/clinvar/90065 ^@ NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) http://identifiers.org/clinvar/90066 ^@ NM_000249.3(MLH1):c.2136G>A (p.Trp712Ter) http://identifiers.org/clinvar/90067 ^@ NM_000249.3(MLH1):c.213_215delAGA (p.Glu71del) http://identifiers.org/clinvar/90068 ^@ NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) http://identifiers.org/clinvar/90069 ^@ NM_000249.3(MLH1):c.2147_2148delTG (p.Val716Glyfs) http://identifiers.org/clinvar/90070 ^@ NM_000249.3(MLH1):c.2149_2195dup47 (p.His733Asnfs) http://identifiers.org/clinvar/90071 ^@ NM_000249.3(MLH1):c.2153A>C (p.His718Pro) http://identifiers.org/clinvar/90072 ^@ NM_000249.3(MLH1):c.2154_2155delCA (p.Ile719Cysfs) http://identifiers.org/clinvar/90073 ^@ NM_000249.3(MLH1):c.2154_2155dupCA (p.Ile719Thrfs) http://identifiers.org/clinvar/90074 ^@ NM_000249.3(MLH1):c.2155_2156insATGTGTTCCACA (p.His718_Ile719insAsnValPheHis) http://identifiers.org/clinvar/90075 ^@ NM_000249.3(MLH1):c.2157dupT (p.Val720Cysfs) http://identifiers.org/clinvar/90076 ^@ NM_000249.3(MLH1):c.2159T>G (p.Val720Gly) http://identifiers.org/clinvar/90077 ^@ NM_000249.3(MLH1):c.2161_2166dupTATAAA (p.Lys722_Ala723insTyrLys) http://identifiers.org/clinvar/90078 ^@ NM_000249.3(MLH1):c.2162A>G (p.Tyr721Cys) http://identifiers.org/clinvar/90079 ^@ NM_000249.3(MLH1):c.2163T>A (p.Tyr721Ter) http://identifiers.org/clinvar/90080 ^@ NM_000249.3(MLH1):c.2170T>A (p.Leu724Met) http://identifiers.org/clinvar/90081 ^@ NM_000249.3(MLH1):c.2173C>T (p.Arg725Cys) http://identifiers.org/clinvar/90082 ^@ NM_000249.3(MLH1):c.2174G>A (p.Arg725His) http://identifiers.org/clinvar/90083 ^@ NM_000249.3(MLH1):c.2179_2182delCACA (p.His727Phefs) http://identifiers.org/clinvar/90084 ^@ NM_000249.3(MLH1):c.2181_2182delCA (p.Ile728Serfs) http://identifiers.org/clinvar/90085 ^@ NM_000249.3(MLH1):c.2185C>G (p.Leu729Val) http://identifiers.org/clinvar/90086 ^@ NM_000249.3(MLH1):c.218T>C (p.Leu73Pro) http://identifiers.org/clinvar/90087 ^@ NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) http://identifiers.org/clinvar/90088 ^@ NM_000249.3(MLH1):c.2195_2198dupAACA (p.His733Glnfs) http://identifiers.org/clinvar/90089 ^@ NM_000249.3(MLH1):c.219G>A (p.Leu73=) http://identifiers.org/clinvar/90090 ^@ NM_000249.3(MLH1):c.2210A>T (p.Asp737Val) http://identifiers.org/clinvar/90091 ^@ NM_000249.3(MLH1):c.2218dupA (p.Ile740Asnfs) http://identifiers.org/clinvar/90092 ^@ NM_000249.3(MLH1):c.2221_2224delCTGCins30 (p.?) http://identifiers.org/clinvar/90093 ^@ NM_000249.3(MLH1):c.2223_2233delGCAGCTTGCTA (p.Gln742Profs) http://identifiers.org/clinvar/90094 ^@ NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) http://identifiers.org/clinvar/90095 ^@ NM_000249.3(MLH1):c.2224_2232delCAGCTTGCT (p.Gln742_Ala744del) http://identifiers.org/clinvar/90096 ^@ NM_000249.3(MLH1):c.2224delC (p.Gln742Serfs) http://identifiers.org/clinvar/90097 ^@ NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) http://identifiers.org/clinvar/90098 ^@ NM_000249.3(MLH1):c.2250C>A (p.Tyr750Ter) http://identifiers.org/clinvar/90099 ^@ NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) http://identifiers.org/clinvar/90100 ^@ NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) http://identifiers.org/clinvar/90101 ^@ NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) http://identifiers.org/clinvar/90102 ^@ NM_000249.3(MLH1):c.2252_2253dupAA (p.Val752Lysfs) http://identifiers.org/clinvar/90103 ^@ NM_000249.3(MLH1):c.2258T>C (p.Phe753Ser) http://identifiers.org/clinvar/90104 ^@ NM_000249.3(MLH1):c.2262delG (p.Arg755Glyfs) http://identifiers.org/clinvar/90105 ^@ NM_000249.3(MLH1):c.2263A>T (p.Arg755Trp) http://identifiers.org/clinvar/90106 ^@ NM_000249.3(MLH1):c.2265G>C (p.Arg755Ser) http://identifiers.org/clinvar/90107 ^@ NM_000249.3(MLH1):c.2266_2269dupTGTT (p.Ter757Leufs) http://identifiers.org/clinvar/90108 ^@ NM_000249.3(MLH1):c.2269T>A (p.Ter757Lys) http://identifiers.org/clinvar/90109 ^@ NM_000249.3(MLH1):c.2269dupT (p.Ter757Leufs) http://identifiers.org/clinvar/90110 ^@ NM_000249.3(MLH1):c.229T>C (p.Cys77Arg) http://identifiers.org/clinvar/90111 ^@ NM_000249.3(MLH1):c.22dupA (p.Ile8Asnfs) http://identifiers.org/clinvar/90112 ^@ NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) http://identifiers.org/clinvar/90113 ^@ NM_000249.3(MLH1):c.231_232delTG (p.Cys77Terfs) http://identifiers.org/clinvar/90114 ^@ NM_000249.3(MLH1):c.232delG (p.Glu78Lysfs) http://identifiers.org/clinvar/90115 ^@ NM_000249.3(MLH1):c.238T>G (p.Phe80Val) http://identifiers.org/clinvar/90116 ^@ NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) http://identifiers.org/clinvar/90117 ^@ NM_000249.3(MLH1):c.244dupA (p.Thr82Asnfs) http://identifiers.org/clinvar/90118 ^@ NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) http://identifiers.org/clinvar/90119 ^@ NM_000249.3(MLH1):c.248G>T (p.Ser83Ile) http://identifiers.org/clinvar/90120 ^@ NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) http://identifiers.org/clinvar/127821 ^@ NM_000546.5(TP53):c.704A>G (p.Asn235Ser) http://identifiers.org/clinvar/127822 ^@ NM_000546.5(TP53):c.737T>G (p.Met246Arg) http://identifiers.org/clinvar/127823 ^@ NM_000546.5(TP53):c.800G>A (p.Arg267Gln) http://identifiers.org/clinvar/127824 ^@ NM_000546.5(TP53):c.847C>T (p.Arg283Cys) http://identifiers.org/clinvar/127825 ^@ NM_000546.5(TP53):c.869G>A (p.Arg290His) http://identifiers.org/clinvar/127826 ^@ NM_000546.5(TP53):c.877G>T (p.Gly293Trp) http://identifiers.org/clinvar/127827 ^@ NM_000546.5(TP53):c.91G>A (p.Val31Ile) http://identifiers.org/clinvar/127828 ^@ NM_000551.3(VHL):c.629G>A (p.Arg210Gln) http://identifiers.org/clinvar/127829 ^@ NM_000551.3(VHL):c.445G>T (p.Ala149Ser) http://identifiers.org/clinvar/127830 ^@ NM_000551.3(VHL):c.463+8C>T http://identifiers.org/clinvar/127831 ^@ NM_001128425.1(MUTYH):c.1227_1228dupGG (p.Glu410Glyfs) http://identifiers.org/clinvar/127832 ^@ NM_001128425.1(MUTYH):c.1289C>T (p.Pro430Leu) http://identifiers.org/clinvar/127833 ^@ NM_001128425.1(MUTYH):c.1570A>T (p.Met524Leu) http://identifiers.org/clinvar/127834 ^@ NM_001128425.1(MUTYH):c.56G>A (p.Arg19Gln) http://identifiers.org/clinvar/127835 ^@ NM_001128425.1(MUTYH):c.1012C>T (p.Gln338Ter) http://identifiers.org/clinvar/127836 ^@ NM_001128425.1(MUTYH):c.1013_1014delAGinsGC (p.Gln338Arg) http://identifiers.org/clinvar/127837 ^@ NM_001128425.1(MUTYH):c.1301C>T (p.Thr434Met) http://identifiers.org/clinvar/127838 ^@ NM_001128425.1(MUTYH):c.1437_1439delGGA (p.Glu480del) http://identifiers.org/clinvar/127840 ^@ NM_001128425.1(MUTYH):c.1493A>G (p.Gln498Arg) http://identifiers.org/clinvar/127841 ^@ NM_001128425.1(MUTYH):c.1556G>A (p.Arg519Gln) http://identifiers.org/clinvar/127842 ^@ NM_001128425.1(MUTYH):c.1600C>T (p.Arg534Trp) http://identifiers.org/clinvar/127843 ^@ NM_001128425.1(MUTYH):c.1640delC (p.Ala547Glufs) http://identifiers.org/clinvar/127844 ^@ NM_001128425.1(MUTYH):c.497C>T (p.Ser166Phe) http://identifiers.org/clinvar/127845 ^@ NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) http://identifiers.org/clinvar/127846 ^@ NM_001128425.1(MUTYH):c.572G>A (p.Arg191Gln) http://identifiers.org/clinvar/127847 ^@ NM_001128425.1(MUTYH):c.667A>G (p.Ile223Val) http://identifiers.org/clinvar/127848 ^@ NM_002354.2(EPCAM):c.267G>C (p.Gln89His) http://identifiers.org/clinvar/127849 ^@ NM_002354.2(EPCAM):c.493G>A (p.Ala165Thr) http://identifiers.org/clinvar/127850 ^@ NM_002354.2(EPCAM):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/127851 ^@ NM_002354.2(EPCAM):c.831A>G (p.Ile277Met) http://identifiers.org/clinvar/127852 ^@ NM_002485.4(NBN):c.1034G>T (p.Gly345Val) http://identifiers.org/clinvar/127853 ^@ NM_002485.4(NBN):c.1035C>T (p.Gly345=) http://identifiers.org/clinvar/127854 ^@ NM_002485.4(NBN):c.1036G>A (p.Val346Met) http://identifiers.org/clinvar/127855 ^@ NM_002485.4(NBN):c.1091T>C (p.Val364Ala) http://identifiers.org/clinvar/127856 ^@ NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) http://identifiers.org/clinvar/127857 ^@ NM_002485.4(NBN):c.1238A>G (p.Asn413Ser) http://identifiers.org/clinvar/127858 ^@ NM_002485.4(NBN):c.1317A>G (p.Ile439Met) http://identifiers.org/clinvar/127859 ^@ NM_002485.4(NBN):c.1667T>A (p.Val556Glu) http://identifiers.org/clinvar/127860 ^@ NM_002485.4(NBN):c.1711A>G (p.Lys571Glu) http://identifiers.org/clinvar/127861 ^@ NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) http://identifiers.org/clinvar/127862 ^@ NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) http://identifiers.org/clinvar/127863 ^@ NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) http://identifiers.org/clinvar/127864 ^@ NM_002485.4(NBN):c.2068A>C (p.Lys690Gln) http://identifiers.org/clinvar/127865 ^@ NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) http://identifiers.org/clinvar/127866 ^@ NM_002485.4(NBN):c.2191A>T (p.Asn731Tyr) http://identifiers.org/clinvar/127867 ^@ NM_002485.4(NBN):c.220T>C (p.Tyr74His) http://identifiers.org/clinvar/127868 ^@ NM_002485.4(NBN):c.254A>G (p.Asn85Ser) http://identifiers.org/clinvar/127869 ^@ NM_002485.4(NBN):c.283G>A (p.Asp95Asn) http://identifiers.org/clinvar/127870 ^@ NM_002485.4(NBN):c.325G>C (p.Glu109Gln) http://identifiers.org/clinvar/127871 ^@ NM_002485.4(NBN):c.425A>G (p.Asn142Ser) http://identifiers.org/clinvar/127872 ^@ NM_002485.4(NBN):c.456G>A (p.Met152Ile) http://identifiers.org/clinvar/127873 ^@ NM_002485.4(NBN):c.505C>T (p.Arg169Cys) http://identifiers.org/clinvar/127874 ^@ NM_002485.4(NBN):c.595C>T (p.Pro199Ser) http://identifiers.org/clinvar/127875 ^@ NM_002485.4(NBN):c.602A>T (p.Asp201Val) http://identifiers.org/clinvar/127876 ^@ NM_002485.4(NBN):c.620G>T (p.Ser207Ile) http://identifiers.org/clinvar/127878 ^@ NM_002485.4(NBN):c.698_701delAACA (p.Lys233Serfs) http://identifiers.org/clinvar/127879 ^@ NM_002485.4(NBN):c.758C>T (p.Thr253Ile) http://identifiers.org/clinvar/127880 ^@ NM_002485.4(NBN):c.788T>C (p.Phe263Ser) http://identifiers.org/clinvar/127881 ^@ NM_002485.4(NBN):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/127882 ^@ NM_002878.3(RAD51D):c.137C>G (p.Ser46Cys) http://identifiers.org/clinvar/127883 ^@ NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) http://identifiers.org/clinvar/127885 ^@ NM_002878.3(RAD51D):c.208G>A (p.Asp70Asn) http://identifiers.org/clinvar/127886 ^@ NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) http://identifiers.org/clinvar/127887 ^@ NM_002878.3(RAD51D):c.329G>A (p.Gly110Asp) http://identifiers.org/clinvar/127888 ^@ NM_002878.3(RAD51D):c.412A>C (p.Asn138His) http://identifiers.org/clinvar/127889 ^@ NM_002878.3(RAD51D):c.413A>G (p.Asn138Ser) http://identifiers.org/clinvar/127890 ^@ NM_002878.3(RAD51D):c.493C>G (p.Arg165Gly) http://identifiers.org/clinvar/127891 ^@ NM_002878.3(RAD51D):c.493C>T (p.Arg165Trp) http://identifiers.org/clinvar/127892 ^@ NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) http://identifiers.org/clinvar/127893 ^@ NM_002878.3(RAD51D):c.694C>T (p.Arg232Ter) http://identifiers.org/clinvar/127894 ^@ NM_002878.3(RAD51D):c.748delC (p.His250Thrfs) http://identifiers.org/clinvar/127895 ^@ NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) http://identifiers.org/clinvar/127896 ^@ NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) http://identifiers.org/clinvar/127897 ^@ NM_002878.3(RAD51D):c.932T>C (p.Ile311Thr) http://identifiers.org/clinvar/127898 ^@ NM_002878.3(RAD51D):c.973G>A (p.Gly325Ser) http://identifiers.org/clinvar/127899 ^@ NM_004329.2(BMPR1A):c.1217G>A (p.Arg406His) http://identifiers.org/clinvar/127900 ^@ NM_004329.2(BMPR1A):c.1300G>A (p.Gly434Ser) http://identifiers.org/clinvar/127901 ^@ NM_004329.2(BMPR1A):c.369delA (p.Glu123Aspfs) http://identifiers.org/clinvar/127902 ^@ NM_004329.2(BMPR1A):c.676G>T (p.Val226Phe) http://identifiers.org/clinvar/127903 ^@ NM_004329.2(BMPR1A):c.953A>G (p.Tyr318Cys) http://identifiers.org/clinvar/127904 ^@ NM_004360.4(CDH1):c.-18C>T http://identifiers.org/clinvar/127905 ^@ NM_004360.4(CDH1):c.1004G>A (p.Arg335Gln) http://identifiers.org/clinvar/127906 ^@ NM_004360.4(CDH1):c.1162G>A (p.Glu388Lys) http://identifiers.org/clinvar/127907 ^@ NM_004360.4(CDH1):c.1174G>A (p.Val392Ile) http://identifiers.org/clinvar/127908 ^@ NM_004360.4(CDH1):c.1223C>T (p.Ala408Val) http://identifiers.org/clinvar/127909 ^@ NM_004360.4(CDH1):c.1273G>A (p.Val425Ile) http://identifiers.org/clinvar/127910 ^@ NM_004360.4(CDH1):c.1297G>A (p.Asp433Asn) http://identifiers.org/clinvar/127911 ^@ NM_004360.4(CDH1):c.1334A>C (p.Glu445Ala) http://identifiers.org/clinvar/127912 ^@ NM_004360.4(CDH1):c.1360G>A (p.Val454Ile) http://identifiers.org/clinvar/127913 ^@ NM_004360.4(CDH1):c.1409C>T (p.Thr470Ile) http://identifiers.org/clinvar/127914 ^@ NM_004360.4(CDH1):c.1417G>A (p.Val473Ile) http://identifiers.org/clinvar/127915 ^@ NM_004360.4(CDH1):c.1565+1G>A http://identifiers.org/clinvar/127916 ^@ NM_004360.4(CDH1):c.1566-8C>G http://identifiers.org/clinvar/127917 ^@ NM_004360.4(CDH1):c.1634G>A (p.Arg545Gln) http://identifiers.org/clinvar/127918 ^@ NM_004360.4(CDH1):c.177T>G (p.Asp59Glu) http://identifiers.org/clinvar/127919 ^@ NM_004360.4(CDH1):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/127920 ^@ NM_004360.4(CDH1):c.2080G>A (p.Val694Ile) http://identifiers.org/clinvar/127921 ^@ NM_004360.4(CDH1):c.2104G>A (p.Glu702Lys) http://identifiers.org/clinvar/127922 ^@ NM_004360.4(CDH1):c.2329G>A (p.Asp777Asn) http://identifiers.org/clinvar/127923 ^@ NM_004360.4(CDH1):c.2343A>T (p.Glu781Asp) http://identifiers.org/clinvar/127924 ^@ NM_004360.4(CDH1):c.2369C>T (p.Thr790Ile) http://identifiers.org/clinvar/127925 ^@ NM_004360.4(CDH1):c.2413G>A (p.Asp805Asn) http://identifiers.org/clinvar/127926 ^@ NM_004360.4(CDH1):c.2440-6C>G http://identifiers.org/clinvar/127927 ^@ NM_004360.4(CDH1):c.2515G>A (p.Gly839Ser) http://identifiers.org/clinvar/127928 ^@ NM_004360.4(CDH1):c.2635G>A (p.Gly879Ser) http://identifiers.org/clinvar/127929 ^@ NM_004360.4(CDH1):c.2644G>A (p.Asp882Asn) http://identifiers.org/clinvar/127930 ^@ NM_004360.4(CDH1):c.316A>G (p.Thr106Ala) http://identifiers.org/clinvar/127931 ^@ NM_004360.4(CDH1):c.532-18C>T http://identifiers.org/clinvar/127932 ^@ NM_004360.4(CDH1):c.670C>T (p.Arg224Cys) http://identifiers.org/clinvar/127933 ^@ NM_004360.4(CDH1):c.88C>A (p.Pro30Thr) http://identifiers.org/clinvar/127934 ^@ NM_004655.3(AXIN2):c.1168A>G (p.Ser390Gly) http://identifiers.org/clinvar/127935 ^@ NM_004655.3(AXIN2):c.1235A>C (p.Asn412Thr) http://identifiers.org/clinvar/127936 ^@ NM_004655.3(AXIN2):c.1557C>G (p.Ile519Met) http://identifiers.org/clinvar/127937 ^@ NM_004655.3(AXIN2):c.1685C>T (p.Pro562Leu) http://identifiers.org/clinvar/127938 ^@ NM_004655.3(AXIN2):c.1952C>T (p.Ser651Leu) http://identifiers.org/clinvar/127939 ^@ NM_004655.3(AXIN2):c.1985T>C (p.Leu662Pro) http://identifiers.org/clinvar/127940 ^@ NM_004655.3(AXIN2):c.203G>A (p.Arg68Gln) http://identifiers.org/clinvar/127941 ^@ NM_004655.3(AXIN2):c.2051C>T (p.Ala684Val) http://identifiers.org/clinvar/127942 ^@ NM_004655.3(AXIN2):c.2123C>T (p.Ser708Leu) http://identifiers.org/clinvar/127943 ^@ NM_004655.3(AXIN2):c.2272G>A (p.Ala758Thr) http://identifiers.org/clinvar/127944 ^@ NM_004655.3(AXIN2):c.2285G>A (p.Ser762Asn) http://identifiers.org/clinvar/127945 ^@ NM_004655.3(AXIN2):c.2428G>A (p.Asp810Asn) http://identifiers.org/clinvar/127946 ^@ NM_004655.3(AXIN2):c.2521C>T (p.Arg841Trp) http://identifiers.org/clinvar/127947 ^@ NM_004655.3(AXIN2):c.623C>T (p.Ala208Val) http://identifiers.org/clinvar/127948 ^@ NM_004655.3(AXIN2):c.733C>T (p.Pro245Ser) http://identifiers.org/clinvar/127949 ^@ NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) http://identifiers.org/clinvar/127950 ^@ NM_005359.5(SMAD4):c.424+5G>A http://identifiers.org/clinvar/127951 ^@ NM_005359.5(SMAD4):c.790A>G (p.Ser264Gly) http://identifiers.org/clinvar/127952 ^@ NM_005431.1(XRCC2):c.140A>G (p.His47Arg) http://identifiers.org/clinvar/127953 ^@ NM_005431.1(XRCC2):c.268C>G (p.Leu90Val) http://identifiers.org/clinvar/127954 ^@ NM_005431.1(XRCC2):c.283A>G (p.Ile95Val) http://identifiers.org/clinvar/127955 ^@ NM_005431.1(XRCC2):c.450C>G (p.Ser150Arg) http://identifiers.org/clinvar/127956 ^@ NM_005431.1(XRCC2):c.475C>T (p.Arg159Cys) http://identifiers.org/clinvar/127957 ^@ NM_005431.1(XRCC2):c.476G>A (p.Arg159His) http://identifiers.org/clinvar/127958 ^@ NM_005431.1(XRCC2):c.545delA (p.Lys182Serfs) http://identifiers.org/clinvar/127959 ^@ NM_005431.1(XRCC2):c.580A>G (p.Thr194Ala) http://identifiers.org/clinvar/127960 ^@ NM_005431.1(XRCC2):c.620A>G (p.Glu207Gly) http://identifiers.org/clinvar/127961 ^@ NM_005431.1(XRCC2):c.641G>A (p.Arg214Gln) http://identifiers.org/clinvar/127962 ^@ NM_005431.1(XRCC2):c.667T>C (p.Tyr223His) http://identifiers.org/clinvar/127963 ^@ NM_005431.1(XRCC2):c.773G>A (p.Arg258His) http://identifiers.org/clinvar/127964 ^@ NM_005431.1(XRCC2):c.776_786delGTTTAAAAAGTinsTAAAC (p.Cys259_Ser262delinsLeuAsn) http://identifiers.org/clinvar/127965 ^@ NM_005431.1(XRCC2):c.808T>G (p.Phe270Val) http://identifiers.org/clinvar/127966 ^@ NM_005431.1(XRCC2):c.811A>G (p.Ile271Val) http://identifiers.org/clinvar/127967 ^@ NM_005591.3(MRE11):c.1052G>A (p.Arg351His) http://identifiers.org/clinvar/127968 ^@ NM_005591.3(MRE11):c.1090C>G (p.Arg364Gly) http://identifiers.org/clinvar/127969 ^@ NM_005591.3(MRE11):c.1163G>A (p.Arg388Gln) http://identifiers.org/clinvar/127970 ^@ NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) http://identifiers.org/clinvar/127971 ^@ NM_005591.3(MRE11):c.1221A>C (p.Lys407Asn) http://identifiers.org/clinvar/127972 ^@ NM_005591.3(MRE11):c.1462C>T (p.Arg488Cys) http://identifiers.org/clinvar/127973 ^@ NM_005591.3(MRE11):c.1564G>A (p.Ala522Thr) http://identifiers.org/clinvar/127974 ^@ NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) http://identifiers.org/clinvar/127975 ^@ NM_005591.3(MRE11):c.1783+5G>C http://identifiers.org/clinvar/127976 ^@ NM_005591.3(MRE11):c.1811G>A (p.Arg604His) http://identifiers.org/clinvar/127977 ^@ NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro) http://identifiers.org/clinvar/127978 ^@ NM_005591.3(MRE11):c.1843T>C (p.Ser615Pro) http://identifiers.org/clinvar/127979 ^@ NM_005591.3(MRE11):c.21-6_26delATATAGTGATGA http://identifiers.org/clinvar/127980 ^@ NM_005591.3(MRE11):c.274G>A (p.Glu92Lys) http://identifiers.org/clinvar/127981 ^@ NM_005591.3(MRE11):c.311G>C (p.Ser104Thr) http://identifiers.org/clinvar/127982 ^@ NM_005591.3(MRE11):c.464G>A (p.Arg155His) http://identifiers.org/clinvar/127983 ^@ NM_005591.3(MRE11):c.529G>A (p.Ala177Thr) http://identifiers.org/clinvar/127984 ^@ NM_005591.3(MRE11):c.545-9C>A http://identifiers.org/clinvar/127985 ^@ NM_005591.3(MRE11):c.604A>G (p.Arg202Gly) http://identifiers.org/clinvar/127986 ^@ NM_005591.3(MRE11):c.653A>G (p.Gln218Arg) http://identifiers.org/clinvar/127987 ^@ NM_005591.3(MRE11):c.818C>G (p.Ser273Cys) http://identifiers.org/clinvar/127988 ^@ NM_005591.3(MRE11):c.846-12T>C http://identifiers.org/clinvar/127989 ^@ NM_005591.3(MRE11):c.913C>T (p.Arg305Trp) http://identifiers.org/clinvar/127990 ^@ NM_005732.3(RAD50):c.1094G>A (p.Arg365Gln) http://identifiers.org/clinvar/127991 ^@ NM_005732.3(RAD50):c.1117T>G (p.Ser373Ala) http://identifiers.org/clinvar/127992 ^@ NM_005732.3(RAD50):c.1211A>G (p.Gln404Arg) http://identifiers.org/clinvar/127993 ^@ NM_005732.3(RAD50):c.1277A>G (p.Gln426Arg) http://identifiers.org/clinvar/127994 ^@ NM_005732.3(RAD50):c.1300_1306dupGATAAGA (p.Lys436Argfs) http://identifiers.org/clinvar/127995 ^@ NM_005732.3(RAD50):c.1328T>C (p.Ile443Thr) http://identifiers.org/clinvar/127996 ^@ NM_005732.3(RAD50):c.137T>A (p.Ile46Asn) http://identifiers.org/clinvar/127997 ^@ NM_005732.3(RAD50):c.1393C>T (p.Gln465Ter) http://identifiers.org/clinvar/127998 ^@ NM_005732.3(RAD50):c.1534G>T (p.Ala512Ser) http://identifiers.org/clinvar/127999 ^@ NM_005732.3(RAD50):c.1838A>G (p.Asn613Ser) http://identifiers.org/clinvar/128000 ^@ NM_005732.3(RAD50):c.1911T>A (p.Asp637Glu) http://identifiers.org/clinvar/128001 ^@ NM_005732.3(RAD50):c.2177G>A (p.Arg726His) http://identifiers.org/clinvar/128002 ^@ NM_005732.3(RAD50):c.2213G>A (p.Ser738Asn) http://identifiers.org/clinvar/128003 ^@ NM_005732.3(RAD50):c.2288G>A (p.Arg763His) http://identifiers.org/clinvar/128004 ^@ NM_005732.3(RAD50):c.2397G>C (p.Gln799His) http://identifiers.org/clinvar/128005 ^@ NM_005732.3(RAD50):c.2525T>C (p.Val842Ala) http://identifiers.org/clinvar/128006 ^@ NM_005732.3(RAD50):c.2548C>T (p.Arg850Cys) http://identifiers.org/clinvar/128007 ^@ NM_005732.3(RAD50):c.260G>A (p.Arg87His) http://identifiers.org/clinvar/128008 ^@ NM_005732.3(RAD50):c.2647C>T (p.Arg883Cys) http://identifiers.org/clinvar/128009 ^@ NM_005732.3(RAD50):c.2651G>A (p.Arg884His) http://identifiers.org/clinvar/128010 ^@ NM_005732.3(RAD50):c.265G>A (p.Val89Ile) http://identifiers.org/clinvar/128011 ^@ NM_005732.3(RAD50):c.2750C>T (p.Thr917Ile) http://identifiers.org/clinvar/128012 ^@ NM_005732.3(RAD50):c.280A>C (p.Ile94Leu) http://identifiers.org/clinvar/128013 ^@ NM_005732.3(RAD50):c.2840T>C (p.Ile947Thr) http://identifiers.org/clinvar/128014 ^@ NM_005732.3(RAD50):c.2929_2932delGAAA (p.Glu977Leufs) http://identifiers.org/clinvar/128015 ^@ NM_005732.3(RAD50):c.2983_2986delGAAA (p.Glu995Argfs) http://identifiers.org/clinvar/128016 ^@ NM_005732.3(RAD50):c.3253A>G (p.Ile1085Val) http://identifiers.org/clinvar/128017 ^@ NM_005732.3(RAD50):c.326_329delCAGA (p.Thr109Asnfs) http://identifiers.org/clinvar/128018 ^@ NM_005732.3(RAD50):c.3310T>C (p.Tyr1104His) http://identifiers.org/clinvar/128019 ^@ NM_005732.3(RAD50):c.3455G>A (p.Arg1152Gln) http://identifiers.org/clinvar/128020 ^@ NM_005732.3(RAD50):c.3467G>A (p.Arg1156His) http://identifiers.org/clinvar/128021 ^@ NM_005732.3(RAD50):c.3777G>T (p.Gln1259His) http://identifiers.org/clinvar/128022 ^@ NM_005732.3(RAD50):c.3789G>C (p.Gln1263His) http://identifiers.org/clinvar/128023 ^@ NM_005732.3(RAD50):c.379G>A (p.Val127Ile) http://identifiers.org/clinvar/128024 ^@ NM_005732.3(RAD50):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/128025 ^@ NM_005732.3(RAD50):c.625G>C (p.Glu209Gln) http://identifiers.org/clinvar/128026 ^@ NM_005732.3(RAD50):c.671G>A (p.Arg224His) http://identifiers.org/clinvar/128027 ^@ NM_005732.3(RAD50):c.673G>A (p.Asp225Asn) http://identifiers.org/clinvar/128028 ^@ NM_005732.3(RAD50):c.943G>T (p.Val315Leu) http://identifiers.org/clinvar/128029 ^@ NM_006361.5(HOXB13):c.113C>G (p.Ala38Gly) http://identifiers.org/clinvar/128030 ^@ NM_006361.5(HOXB13):c.199C>T (p.Pro67Ser) http://identifiers.org/clinvar/128031 ^@ NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) http://identifiers.org/clinvar/128032 ^@ NM_006361.5(HOXB13):c.366C>A (p.Ser122Arg) http://identifiers.org/clinvar/128033 ^@ NM_006361.5(HOXB13):c.436G>A (p.Val146Met) http://identifiers.org/clinvar/128034 ^@ NM_006361.5(HOXB13):c.461C>T (p.Ala154Val) http://identifiers.org/clinvar/128035 ^@ NM_006361.5(HOXB13):c.499G>A (p.Asp167Asn) http://identifiers.org/clinvar/128036 ^@ NM_006361.5(HOXB13):c.634G>A (p.Ala212Thr) http://identifiers.org/clinvar/128037 ^@ NM_006361.5(HOXB13):c.74G>A (p.Arg25Gln) http://identifiers.org/clinvar/128038 ^@ NM_006361.5(HOXB13):c.832G>T (p.Val278Leu) http://identifiers.org/clinvar/128039 ^@ NM_007194.3(CHEK2):c.-4C>T http://identifiers.org/clinvar/128040 ^@ NM_007194.3(CHEK2):c.-6-9C>G http://identifiers.org/clinvar/128041 ^@ NM_007194.3(CHEK2):c.-6G>A http://identifiers.org/clinvar/128042 ^@ NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) http://identifiers.org/clinvar/128043 ^@ NM_007194.3(CHEK2):c.1109G>A (p.Gly370Glu) http://identifiers.org/clinvar/128044 ^@ NM_007194.3(CHEK2):c.1111C>T (p.His371Tyr) http://identifiers.org/clinvar/128045 ^@ NM_007194.3(CHEK2):c.1130A>G (p.Glu377Gly) http://identifiers.org/clinvar/128046 ^@ NM_007194.3(CHEK2):c.1133C>T (p.Thr378Ile) http://identifiers.org/clinvar/128047 ^@ NM_007194.3(CHEK2):c.1160C>T (p.Thr387Ile) http://identifiers.org/clinvar/128048 ^@ NM_007194.3(CHEK2):c.1180G>A (p.Glu394Lys) http://identifiers.org/clinvar/128049 ^@ NM_007194.3(CHEK2):c.1183G>C (p.Val395Leu) http://identifiers.org/clinvar/128050 ^@ NM_007194.3(CHEK2):c.1215C>A (p.Asn405Lys) http://identifiers.org/clinvar/128051 ^@ NM_007194.3(CHEK2):c.1231T>A (p.Trp411Arg) http://identifiers.org/clinvar/128052 ^@ NM_007194.3(CHEK2):c.1254delT (p.Phe418Leufs) http://identifiers.org/clinvar/128053 ^@ NM_007194.3(CHEK2):c.1263delT (p.Ser422Valfs) http://identifiers.org/clinvar/128054 ^@ NM_007194.3(CHEK2):c.1270T>C (p.Tyr424His) http://identifiers.org/clinvar/128055 ^@ NM_007194.3(CHEK2):c.1293G>T (p.Arg431Ser) http://identifiers.org/clinvar/128056 ^@ NM_007194.3(CHEK2):c.1312G>T (p.Asp438Tyr) http://identifiers.org/clinvar/128057 ^@ NM_007194.3(CHEK2):c.1318A>C (p.Ile440Leu) http://identifiers.org/clinvar/128058 ^@ NM_007194.3(CHEK2):c.1318A>T (p.Ile440Phe) http://identifiers.org/clinvar/128059 ^@ NM_007194.3(CHEK2):c.1420C>T (p.Arg474Cys) http://identifiers.org/clinvar/128060 ^@ NM_007194.3(CHEK2):c.1427C>T (p.Thr476Met) http://identifiers.org/clinvar/128061 ^@ NM_007194.3(CHEK2):c.1448A>G (p.His483Arg) http://identifiers.org/clinvar/128062 ^@ NM_007194.3(CHEK2):c.1470C>A (p.Asp490Glu) http://identifiers.org/clinvar/128063 ^@ NM_007194.3(CHEK2):c.1525C>T (p.Pro509Ser) http://identifiers.org/clinvar/128064 ^@ NM_007194.3(CHEK2):c.1555C>T (p.Arg519Ter) http://identifiers.org/clinvar/128065 ^@ NM_007194.3(CHEK2):c.1556G>A (p.Arg519Gln) http://identifiers.org/clinvar/128066 ^@ NM_007194.3(CHEK2):c.1556G>T (p.Arg519Leu) http://identifiers.org/clinvar/128067 ^@ NM_007194.3(CHEK2):c.1604G>A (p.Arg535His) http://identifiers.org/clinvar/128068 ^@ NM_007194.3(CHEK2):c.190G>A (p.Glu64Lys) http://identifiers.org/clinvar/128069 ^@ NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del) http://identifiers.org/clinvar/128070 ^@ NM_007194.3(CHEK2):c.320-5T>A http://identifiers.org/clinvar/128071 ^@ NM_007194.3(CHEK2):c.349A>G (p.Arg117Gly) http://identifiers.org/clinvar/128072 ^@ NM_007194.3(CHEK2):c.400G>C (p.Asp134His) http://identifiers.org/clinvar/128073 ^@ NM_007194.3(CHEK2):c.410G>A (p.Arg137Gln) http://identifiers.org/clinvar/128074 ^@ NM_007194.3(CHEK2):c.416A>G (p.Tyr139Cys) http://identifiers.org/clinvar/128075 ^@ NM_007194.3(CHEK2):c.444+1G>A http://identifiers.org/clinvar/128076 ^@ NM_007194.3(CHEK2):c.479T>G (p.Ile160Arg) http://identifiers.org/clinvar/128077 ^@ NM_007194.3(CHEK2):c.480A>G (p.Ile160Met) http://identifiers.org/clinvar/128078 ^@ NM_007194.3(CHEK2):c.500G>A (p.Gly167Glu) http://identifiers.org/clinvar/128079 ^@ NM_007194.3(CHEK2):c.507delT (p.Phe169Leufs) http://identifiers.org/clinvar/128080 ^@ NM_007194.3(CHEK2):c.524dupT (p.Gly176Argfs) http://identifiers.org/clinvar/128081 ^@ NM_007194.3(CHEK2):c.538C>T (p.Arg180Cys) http://identifiers.org/clinvar/128082 ^@ NM_007194.3(CHEK2):c.565A>G (p.Ile189Val) http://identifiers.org/clinvar/128083 ^@ NM_007194.3(CHEK2):c.581delG (p.Ser194Thrfs) http://identifiers.org/clinvar/128084 ^@ NM_007194.3(CHEK2):c.613A>T (p.Thr205Ser) http://identifiers.org/clinvar/128085 ^@ NM_007194.3(CHEK2):c.74T>C (p.Val25Ala) http://identifiers.org/clinvar/128086 ^@ NM_007194.3(CHEK2):c.751A>T (p.Ile251Phe) http://identifiers.org/clinvar/128087 ^@ NM_007194.3(CHEK2):c.906A>C (p.Glu302Asp) http://identifiers.org/clinvar/128088 ^@ NM_007194.3(CHEK2):c.915A>C (p.Glu305Asp) http://identifiers.org/clinvar/128089 ^@ NM_007194.3(CHEK2):c.917G>C (p.Gly306Ala) http://identifiers.org/clinvar/128090 ^@ NM_007194.3(CHEK2):c.952C>T (p.Arg318Cys) http://identifiers.org/clinvar/128091 ^@ NM_007194.3(CHEK2):c.973A>C (p.Lys325Gln) http://identifiers.org/clinvar/128092 ^@ NM_007194.3(CHEK2):c.980A>G (p.Tyr327Cys) http://identifiers.org/clinvar/128093 ^@ NM_016081.3(PALLD):c.1004T>C (p.Phe335Ser) http://identifiers.org/clinvar/128094 ^@ NM_016081.3(PALLD):c.1040C>T (p.Thr347Met) http://identifiers.org/clinvar/128095 ^@ NM_016081.3(PALLD):c.1273A>T (p.Thr425Ser) http://identifiers.org/clinvar/128096 ^@ NM_016081.3(PALLD):c.1289G>A (p.Arg430Gln) http://identifiers.org/clinvar/128097 ^@ NM_016081.3(PALLD):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/128098 ^@ NM_016081.3(PALLD):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/128099 ^@ NM_016081.3(PALLD):c.1849C>T (p.Arg617Cys) http://identifiers.org/clinvar/128100 ^@ NM_016081.3(PALLD):c.1873G>A (p.Gly625Ser) http://identifiers.org/clinvar/128101 ^@ NM_016081.3(PALLD):c.2084T>G (p.Leu695Arg) http://identifiers.org/clinvar/128102 ^@ NM_016081.3(PALLD):c.2242A>T (p.Ile748Leu) http://identifiers.org/clinvar/128103 ^@ NM_016081.3(PALLD):c.2305G>A (p.Val769Met) http://identifiers.org/clinvar/128104 ^@ NM_016081.3(PALLD):c.2476A>G (p.Ile826Val) http://identifiers.org/clinvar/128105 ^@ NM_016081.3(PALLD):c.2530G>C (p.Asp844His) http://identifiers.org/clinvar/128106 ^@ NM_016081.3(PALLD):c.2600T>C (p.Met867Thr) http://identifiers.org/clinvar/128108 ^@ NM_016081.3(PALLD):c.3213T>G (p.Ile1071Met) http://identifiers.org/clinvar/128109 ^@ NM_016081.3(PALLD):c.3250G>C (p.Val1084Leu) http://identifiers.org/clinvar/128110 ^@ NM_016081.3(PALLD):c.433G>A (p.Ala145Thr) http://identifiers.org/clinvar/128111 ^@ NM_016081.3(PALLD):c.539C>T (p.Thr180Ile) http://identifiers.org/clinvar/128112 ^@ NM_016081.3(PALLD):c.707C>A (p.Ser236Tyr) http://identifiers.org/clinvar/128113 ^@ NM_016081.3(PALLD):c.731A>G (p.Gln244Arg) http://identifiers.org/clinvar/128114 ^@ NM_016081.3(PALLD):c.764G>A (p.Arg255His) http://identifiers.org/clinvar/128115 ^@ NM_016081.3(PALLD):c.909A>T (p.Arg303Ser) http://identifiers.org/clinvar/128116 ^@ NM_024675.3(PALB2):c.1128T>G (p.Ser376Arg) http://identifiers.org/clinvar/128117 ^@ NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter) http://identifiers.org/clinvar/128118 ^@ NM_024675.3(PALB2):c.1347A>G (p.Lys449=) http://identifiers.org/clinvar/128119 ^@ NM_024675.3(PALB2):c.1348A>C (p.Asn450His) http://identifiers.org/clinvar/128120 ^@ NM_024675.3(PALB2):c.1564C>T (p.Pro522Ser) http://identifiers.org/clinvar/128121 ^@ NM_024675.3(PALB2):c.1675_1676delCAinsTG (p.Gln559Ter) http://identifiers.org/clinvar/128122 ^@ NM_024675.3(PALB2):c.1697G>A (p.Arg566His) http://identifiers.org/clinvar/128123 ^@ NM_024675.3(PALB2):c.1733G>T (p.Ser578Ile) http://identifiers.org/clinvar/128124 ^@ NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) http://identifiers.org/clinvar/128125 ^@ NM_024675.3(PALB2):c.1987C>T (p.Arg663Cys) http://identifiers.org/clinvar/128126 ^@ NM_024675.3(PALB2):c.2078A>G (p.His693Arg) http://identifiers.org/clinvar/128127 ^@ NM_024675.3(PALB2):c.2117C>G (p.Thr706Ser) http://identifiers.org/clinvar/128128 ^@ NM_024675.3(PALB2):c.2120delC (p.Pro707Leufs) http://identifiers.org/clinvar/128129 ^@ NM_024675.3(PALB2):c.2230G>A (p.Glu744Lys) http://identifiers.org/clinvar/128130 ^@ NM_024675.3(PALB2):c.2379C>T (p.Gly793=) http://identifiers.org/clinvar/128131 ^@ NM_024675.3(PALB2):c.2390_2396delAACCTAC (p.Gln797Profs) http://identifiers.org/clinvar/128132 ^@ NM_024675.3(PALB2):c.2395A>C (p.Thr799Pro) http://identifiers.org/clinvar/128133 ^@ NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) http://identifiers.org/clinvar/128134 ^@ NM_024675.3(PALB2):c.2807T>C (p.Leu936Ser) http://identifiers.org/clinvar/128135 ^@ NM_024675.3(PALB2):c.2846G>A (p.Cys949Tyr) http://identifiers.org/clinvar/128136 ^@ NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) http://identifiers.org/clinvar/128137 ^@ NM_024675.3(PALB2):c.3125C>G (p.Thr1042Ser) http://identifiers.org/clinvar/128138 ^@ NM_024675.3(PALB2):c.3132A>C (p.Gln1044His) http://identifiers.org/clinvar/128139 ^@ NM_024675.3(PALB2):c.3175G>A (p.Val1059Ile) http://identifiers.org/clinvar/128140 ^@ NM_024675.3(PALB2):c.3229C>G (p.Pro1077Ala) http://identifiers.org/clinvar/128141 ^@ NM_024675.3(PALB2):c.3437A>G (p.Gln1146Arg) http://identifiers.org/clinvar/128142 ^@ NM_024675.3(PALB2):c.3456dupA (p.Pro1153Thrfs) http://identifiers.org/clinvar/128143 ^@ NM_024675.3(PALB2):c.353T>C (p.Ile118Thr) http://identifiers.org/clinvar/128144 ^@ NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) http://identifiers.org/clinvar/128145 ^@ NM_024675.3(PALB2):c.551G>C (p.Ser184Thr) http://identifiers.org/clinvar/128146 ^@ NM_024675.3(PALB2):c.571C>G (p.Pro191Ala) http://identifiers.org/clinvar/128147 ^@ NM_024675.3(PALB2):c.856C>T (p.Pro286Ser) http://identifiers.org/clinvar/128148 ^@ NM_024675.3(PALB2):c.909_911delCCT (p.Leu304del) http://identifiers.org/clinvar/128149 ^@ NM_024675.3(PALB2):c.928A>G (p.Ser310Gly) http://identifiers.org/clinvar/128150 ^@ NM_024675.3(PALB2):c.949A>C (p.Thr317Pro) http://identifiers.org/clinvar/128151 ^@ NM_032043.2(BRIP1):c.1126_1127delCA (p.Gln376Asnfs) http://identifiers.org/clinvar/128152 ^@ NM_032043.2(BRIP1):c.1246C>T (p.Arg416Trp) http://identifiers.org/clinvar/128153 ^@ NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) http://identifiers.org/clinvar/128154 ^@ NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) http://identifiers.org/clinvar/128155 ^@ NM_032043.2(BRIP1):c.1357G>A (p.Ala453Thr) http://identifiers.org/clinvar/128156 ^@ NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) http://identifiers.org/clinvar/128157 ^@ NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) http://identifiers.org/clinvar/128158 ^@ NM_032043.2(BRIP1):c.1441G>T (p.Gly481Cys) http://identifiers.org/clinvar/128159 ^@ NM_032043.2(BRIP1):c.1442G>T (p.Gly481Val) http://identifiers.org/clinvar/128160 ^@ NM_032043.2(BRIP1):c.1444A>G (p.Ile482Val) http://identifiers.org/clinvar/128161 ^@ NM_032043.2(BRIP1):c.1467T>G (p.Ile489Met) http://identifiers.org/clinvar/128162 ^@ NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) http://identifiers.org/clinvar/128163 ^@ NM_032043.2(BRIP1):c.1774T>G (p.Trp592Gly) http://identifiers.org/clinvar/128164 ^@ NM_032043.2(BRIP1):c.1898T>C (p.Ile633Thr) http://identifiers.org/clinvar/128165 ^@ NM_032043.2(BRIP1):c.1936-5_1936-4delTCinsGT http://identifiers.org/clinvar/128166 ^@ NM_032043.2(BRIP1):c.2038_2039dupTT (p.Leu680Phefs) http://identifiers.org/clinvar/128167 ^@ NM_032043.2(BRIP1):c.2087C>T (p.Pro696Leu) http://identifiers.org/clinvar/128168 ^@ NM_032043.2(BRIP1):c.2216T>C (p.Leu739Pro) http://identifiers.org/clinvar/128169 ^@ NM_032043.2(BRIP1):c.2233G>A (p.Ala745Thr) http://identifiers.org/clinvar/128170 ^@ NM_032043.2(BRIP1):c.2273dupT (p.Ala759Serfs) http://identifiers.org/clinvar/128171 ^@ NM_032043.2(BRIP1):c.2422A>G (p.Arg808Gly) http://identifiers.org/clinvar/128172 ^@ NM_032043.2(BRIP1):c.2428C>G (p.Leu810Val) http://identifiers.org/clinvar/128173 ^@ NM_032043.2(BRIP1):c.2469G>T (p.Arg823Ser) http://identifiers.org/clinvar/128174 ^@ NM_032043.2(BRIP1):c.2492+2dupT http://identifiers.org/clinvar/128175 ^@ NM_032043.2(BRIP1):c.2564G>A (p.Arg855His) http://identifiers.org/clinvar/128176 ^@ NM_032043.2(BRIP1):c.2575+5G>A http://identifiers.org/clinvar/128177 ^@ NM_032043.2(BRIP1):c.2579T>C (p.Leu860Pro) http://identifiers.org/clinvar/128178 ^@ NM_032043.2(BRIP1):c.2650T>A (p.Phe884Ile) http://identifiers.org/clinvar/128179 ^@ NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) http://identifiers.org/clinvar/128180 ^@ NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu) http://identifiers.org/clinvar/128181 ^@ NM_032043.2(BRIP1):c.2857A>C (p.Thr953Pro) http://identifiers.org/clinvar/128182 ^@ NM_032043.2(BRIP1):c.2933G>A (p.Gly978Glu) http://identifiers.org/clinvar/128183 ^@ NM_032043.2(BRIP1):c.3104G>A (p.Arg1035His) http://identifiers.org/clinvar/128184 ^@ NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) http://identifiers.org/clinvar/128185 ^@ NM_032043.2(BRIP1):c.3236T>C (p.Ile1079Thr) http://identifiers.org/clinvar/128186 ^@ NM_032043.2(BRIP1):c.3331G>C (p.Glu1111Gln) http://identifiers.org/clinvar/128187 ^@ NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) http://identifiers.org/clinvar/128188 ^@ NM_032043.2(BRIP1):c.3412G>T (p.Asp1138Tyr) http://identifiers.org/clinvar/128189 ^@ NM_032043.2(BRIP1):c.3464G>A (p.Gly1155Glu) http://identifiers.org/clinvar/128190 ^@ NM_032043.2(BRIP1):c.3727G>T (p.Gly1243Cys) http://identifiers.org/clinvar/128191 ^@ NM_032043.2(BRIP1):c.413T>C (p.Leu138Ser) http://identifiers.org/clinvar/128192 ^@ NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) http://identifiers.org/clinvar/128193 ^@ NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) http://identifiers.org/clinvar/128194 ^@ NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) http://identifiers.org/clinvar/128195 ^@ NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) http://identifiers.org/clinvar/128196 ^@ NM_032043.2(BRIP1):c.797C>T (p.Thr266Met) http://identifiers.org/clinvar/128197 ^@ NM_032043.2(BRIP1):c.845C>G (p.Thr282Ser) http://identifiers.org/clinvar/128198 ^@ NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) http://identifiers.org/clinvar/128199 ^@ NM_032043.2(BRIP1):c.993G>A (p.Met331Ile) http://identifiers.org/clinvar/128200 ^@ NM_000077.4(CDKN2A):c.174A>C (p.Arg58=) http://identifiers.org/clinvar/128201 ^@ NM_058216.2(RAD51C):c.1026+5_1026+7delGTA http://identifiers.org/clinvar/128202 ^@ NM_058216.2(RAD51C):c.1102C>T (p.Arg368Trp) http://identifiers.org/clinvar/128203 ^@ NM_058216.2(RAD51C):c.14C>T (p.Thr5Met) http://identifiers.org/clinvar/128204 ^@ NM_058216.2(RAD51C):c.406A>T (p.Met136Leu) http://identifiers.org/clinvar/128205 ^@ NM_058216.2(RAD51C):c.428A>G (p.Gln143Arg) http://identifiers.org/clinvar/128206 ^@ NM_058216.2(RAD51C):c.506T>C (p.Val169Ala) http://identifiers.org/clinvar/128207 ^@ NM_058216.2(RAD51C):c.571+4A>G http://identifiers.org/clinvar/128208 ^@ NM_058216.2(RAD51C):c.572-11delT http://identifiers.org/clinvar/128209 ^@ NM_058216.2(RAD51C):c.706-2A>G http://identifiers.org/clinvar/128210 ^@ NM_058216.2(RAD51C):c.784T>G (p.Leu262Val) http://identifiers.org/clinvar/128211 ^@ NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) http://identifiers.org/clinvar/128212 ^@ NM_058216.2(RAD51C):c.837+4_837+7delAGTA http://identifiers.org/clinvar/128213 ^@ NM_058216.2(RAD51C):c.959A>G (p.Lys320Arg) http://identifiers.org/clinvar/128214 ^@ NM_139076.2(FAM175A):c.1032dupT (p.Lys345Terfs) http://identifiers.org/clinvar/128215 ^@ NM_139076.2(FAM175A):c.1106dupG (p.Ser370Ilefs) http://identifiers.org/clinvar/128216 ^@ NM_139076.2(FAM175A):c.1108T>A (p.Ser370Thr) http://identifiers.org/clinvar/128217 ^@ NM_139076.2(FAM175A):c.1139A>G (p.Asp380Gly) http://identifiers.org/clinvar/128218 ^@ NM_139076.2(FAM175A):c.125A>G (p.Lys42Arg) http://identifiers.org/clinvar/128219 ^@ NM_139076.2(FAM175A):c.233G>A (p.Gly78Asp) http://identifiers.org/clinvar/128220 ^@ NM_139076.2(FAM175A):c.364C>G (p.Gln122Glu) http://identifiers.org/clinvar/128221 ^@ NM_139076.2(FAM175A):c.364C>T (p.Gln122Ter) http://identifiers.org/clinvar/128222 ^@ NM_139076.2(FAM175A):c.422C>T (p.Thr141Ile) http://identifiers.org/clinvar/128223 ^@ NM_139076.2(FAM175A):c.518T>C (p.Met173Thr) http://identifiers.org/clinvar/128224 ^@ NM_139076.2(FAM175A):c.682-13_682-9delCTTTA http://identifiers.org/clinvar/128225 ^@ NM_139076.2(FAM175A):c.755G>A (p.Arg252Gln) http://identifiers.org/clinvar/128226 ^@ NM_139076.2(FAM175A):c.833T>C (p.Ile278Thr) http://identifiers.org/clinvar/128227 ^@ NM_139076.2(FAM175A):c.836T>G (p.Phe279Cys) http://identifiers.org/clinvar/128228 ^@ NM_139076.2(FAM175A):c.853C>T (p.Arg285Trp) http://identifiers.org/clinvar/128229 ^@ NM_139076.2(FAM175A):c.915T>A (p.His305Gln) http://identifiers.org/clinvar/128232 ^@ NM_001145155.1(NR2F2):c.623C>A (p.Ser208Tyr) http://identifiers.org/clinvar/128233 ^@ NM_001145155.1(NR2F2):c.215A>T (p.Asn72Ile) http://identifiers.org/clinvar/128234 ^@ NM_021005.3(NR2F2):c.222_224dupGCA (p.Gln75_His76insGln) http://identifiers.org/clinvar/128235 ^@ NM_001145155.1(NR2F2):c.571+1G>A http://identifiers.org/clinvar/128236 ^@ NM_002103.4(GYS1):c.162_163delAG (p.Asp56Argfs) http://identifiers.org/clinvar/128241 ^@ NM_018474.4(KIZ):c.226C>T (p.Arg76Ter) http://identifiers.org/clinvar/128242 ^@ NM_018474.4(KIZ):c.52G>T (p.Glu18Ter) http://identifiers.org/clinvar/128243 ^@ NM_018474.4(KIZ):c.119_122delAACT (p.Lys40Ilefs) http://identifiers.org/clinvar/128250 ^@ NM_001171155.1(PET100):c.142C>T (p.Gln48Ter) http://identifiers.org/clinvar/128251 ^@ NM_015665.5(AAAS):c.679T>C (p.Leu227=) http://identifiers.org/clinvar/128252 ^@ NM_015665.5(AAAS):c.855C>T (p.Phe285=) http://identifiers.org/clinvar/128253 ^@ NM_001042472.2(ABHD12):c.1045G>A (p.Ala349Thr) http://identifiers.org/clinvar/128254 ^@ NM_001042472.2(ABHD12):c.1068T>C (p.Asp356=) http://identifiers.org/clinvar/128255 ^@ NM_001042472.2(ABHD12):c.837C>T (p.Arg279=) http://identifiers.org/clinvar/128256 ^@ NM_001098.2(ACO2):c.192A>C (p.Thr64=) http://identifiers.org/clinvar/128257 ^@ NM_001098.2(ACO2):c.670C>T (p.Leu224=) http://identifiers.org/clinvar/128258 ^@ NM_004458.2(ACSL4):c.284A>G (p.Asn95Ser) http://identifiers.org/clinvar/128259 ^@ NM_001100.3(ACTA1):c.132C>T (p.Gly44=) http://identifiers.org/clinvar/128260 ^@ NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn) http://identifiers.org/clinvar/128261 ^@ NM_001100.3(ACTA1):c.515C>A (p.Ala172Glu) http://identifiers.org/clinvar/128262 ^@ NM_001101.3(ACTB):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/128263 ^@ NM_001101.3(ACTB):c.1023C>T (p.Ile341=) http://identifiers.org/clinvar/128264 ^@ NM_001101.3(ACTB):c.942G>A (p.Gln314=) http://identifiers.org/clinvar/128265 ^@ NM_001614.3(ACTG1):c.520G>T (p.Ala174Ser) http://identifiers.org/clinvar/128266 ^@ NM_001614.3(ACTG1):c.598T>A (p.Phe200Ile) http://identifiers.org/clinvar/128267 ^@ NM_001614.3(ACTG1):c.1014G>A (p.Ser338=) http://identifiers.org/clinvar/128268 ^@ NM_001614.3(ACTG1):c.1026T>C (p.Gly342=) http://identifiers.org/clinvar/128269 ^@ NM_001614.3(ACTG1):c.1128A>G (p.Ter376=) http://identifiers.org/clinvar/128270 ^@ NM_001614.3(ACTG1):c.399C>T (p.Tyr133=) http://identifiers.org/clinvar/128271 ^@ NM_001614.3(ACTG1):c.414C>T (p.Ala138=) http://identifiers.org/clinvar/128272 ^@ NM_001614.3(ACTG1):c.729C>T (p.Pro243=) http://identifiers.org/clinvar/128273 ^@ NM_020247.4(COQ8A):c.117G>A (p.Ala39=) http://identifiers.org/clinvar/128274 ^@ NM_020247.4(COQ8A):c.1440C>T (p.Phe480=) http://identifiers.org/clinvar/128275 ^@ NM_020247.4(COQ8A):c.1716T>C (p.Ser572=) http://identifiers.org/clinvar/128276 ^@ NM_000026.3(ADSL):c.124C>T (p.Leu42=) http://identifiers.org/clinvar/128277 ^@ NM_000026.3(ADSL):c.358-4G>A http://identifiers.org/clinvar/128278 ^@ NM_000026.3(ADSL):c.440A>T (p.Lys147Met) http://identifiers.org/clinvar/128279 ^@ NM_002025.3(AFF2):c.1118C>G (p.Thr373Ser) http://identifiers.org/clinvar/128281 ^@ NM_002025.3(AFF2):c.1488G>A (p.Ser496=) http://identifiers.org/clinvar/128282 ^@ NM_002025.3(AFF2):c.1653A>G (p.Thr551=) http://identifiers.org/clinvar/128283 ^@ NM_002025.3(AFF2):c.1830G>C (p.Leu610Phe) http://identifiers.org/clinvar/128284 ^@ NM_002025.3(AFF2):c.3837G>A (p.Thr1279=) http://identifiers.org/clinvar/128285 ^@ NM_002025.3(AFF2):c.493A>G (p.Asn165Asp) http://identifiers.org/clinvar/128286 ^@ NM_006796.2(AFG3L2):c.1389G>A (p.Leu463=) http://identifiers.org/clinvar/128287 ^@ NM_006796.2(AFG3L2):c.1650A>G (p.Glu550=) http://identifiers.org/clinvar/128288 ^@ NM_006412.3(AGPAT2):c.317-7C>T http://identifiers.org/clinvar/128289 ^@ NM_006412.3(AGPAT2):c.229C>T (p.Arg77Cys) http://identifiers.org/clinvar/128290 ^@ NM_006412.3(AGPAT2):c.702C>T (p.Ser234=) http://identifiers.org/clinvar/128291 ^@ NM_198576.3(AGRN):c.1058A>G (p.Gln353Arg) http://identifiers.org/clinvar/128292 ^@ NM_198576.3(AGRN):c.1178-6T>C http://identifiers.org/clinvar/128293 ^@ NM_198576.3(AGRN):c.2025C>G (p.Gly675=) http://identifiers.org/clinvar/128294 ^@ NM_198576.3(AGRN):c.2183A>T (p.Glu728Val) http://identifiers.org/clinvar/128295 ^@ NM_198576.3(AGRN):c.2406C>T (p.Gly802=) http://identifiers.org/clinvar/128296 ^@ NM_198576.3(AGRN):c.261C>T (p.Asp87=) http://identifiers.org/clinvar/128297 ^@ NM_198576.3(AGRN):c.3066A>G (p.Ser1022=) http://identifiers.org/clinvar/128298 ^@ NM_198576.3(AGRN):c.3264G>C (p.Leu1088Phe) http://identifiers.org/clinvar/128299 ^@ NM_198576.3(AGRN):c.3404A>G (p.Gln1135Arg) http://identifiers.org/clinvar/128300 ^@ NM_198576.3(AGRN):c.3465T>C (p.Ala1155=) http://identifiers.org/clinvar/128301 ^@ NM_198576.3(AGRN):c.3516+10G>C http://identifiers.org/clinvar/128302 ^@ NM_198576.3(AGRN):c.3558T>C (p.Phe1186=) http://identifiers.org/clinvar/128303 ^@ NM_198576.3(AGRN):c.3570C>T (p.Arg1190=) http://identifiers.org/clinvar/128304 ^@ NM_198576.3(AGRN):c.3866C>T (p.Pro1289Leu) http://identifiers.org/clinvar/128305 ^@ NM_198576.3(AGRN):c.3964C>T (p.Arg1322Trp) http://identifiers.org/clinvar/128306 ^@ NM_198576.3(AGRN):c.3972G>A (p.Pro1324=) http://identifiers.org/clinvar/128307 ^@ NM_198576.3(AGRN):c.4161T>C (p.Thr1387=) http://identifiers.org/clinvar/128308 ^@ NM_198576.3(AGRN):c.4452C>T (p.Thr1484=) http://identifiers.org/clinvar/128309 ^@ NM_198576.3(AGRN):c.4540G>A (p.Ala1514Thr) http://identifiers.org/clinvar/128310 ^@ NM_198576.3(AGRN):c.45G>T (p.Pro15=) http://identifiers.org/clinvar/128311 ^@ NM_198576.3(AGRN):c.4740C>T (p.Arg1580=) http://identifiers.org/clinvar/128312 ^@ NM_198576.3(AGRN):c.4996G>A (p.Val1666Ile) http://identifiers.org/clinvar/128313 ^@ NM_198576.3(AGRN):c.5070C>T (p.Phe1690=) http://identifiers.org/clinvar/128314 ^@ NM_198576.3(AGRN):c.5353G>A (p.Asp1785Asn) http://identifiers.org/clinvar/128315 ^@ NM_198576.3(AGRN):c.5358T>C (p.Gly1786=) http://identifiers.org/clinvar/128316 ^@ NM_198576.3(AGRN):c.5598C>T (p.Thr1866=) http://identifiers.org/clinvar/128317 ^@ NM_198576.3(AGRN):c.5651+5C>T http://identifiers.org/clinvar/128318 ^@ NM_198576.3(AGRN):c.5726G>C (p.Ser1909Thr) http://identifiers.org/clinvar/128319 ^@ NM_198576.3(AGRN):c.6057C>T (p.Asp2019=) http://identifiers.org/clinvar/128320 ^@ NM_198576.3(AGRN):c.804C>T (p.Ala268=) http://identifiers.org/clinvar/128321 ^@ NM_017651.4(AHI1):c.72T>C (p.Ser24=) http://identifiers.org/clinvar/128322 ^@ NM_017651.4(AHI1):c.1643G>A (p.Arg548His) http://identifiers.org/clinvar/128323 ^@ NM_017651.4(AHI1):c.2223T>C (p.Asp741=) http://identifiers.org/clinvar/128324 ^@ NM_017651.4(AHI1):c.2488C>T (p.Arg830Trp) http://identifiers.org/clinvar/128325 ^@ NM_017651.4(AHI1):c.2624-6A>G http://identifiers.org/clinvar/128326 ^@ NM_017651.4(AHI1):c.3015A>G (p.Ser1005=) http://identifiers.org/clinvar/128327 ^@ NM_017651.4(AHI1):c.3053A>C (p.Gln1018Pro) http://identifiers.org/clinvar/128328 ^@ NM_017651.4(AHI1):c.804A>C (p.Ser268=) http://identifiers.org/clinvar/128329 ^@ NM_000383.3(AIRE):c.1095+6G>A http://identifiers.org/clinvar/128330 ^@ NM_000383.3(AIRE):c.1096-9G>C http://identifiers.org/clinvar/128332 ^@ NM_000383.3(AIRE):c.1411C>T (p.Arg471Cys) http://identifiers.org/clinvar/128333 ^@ NM_000383.3(AIRE):c.548C>A (p.Thr183Asn) http://identifiers.org/clinvar/128334 ^@ NM_000383.3(AIRE):c.595G>A (p.Val199Ile) http://identifiers.org/clinvar/128335 ^@ NM_000383.3(AIRE):c.789C>T (p.Gly263=) http://identifiers.org/clinvar/128336 ^@ NM_000383.3(AIRE):c.1197T>C (p.Ala399=) http://identifiers.org/clinvar/128337 ^@ NM_000383.3(AIRE):c.1578T>C (p.Asp526=) http://identifiers.org/clinvar/128338 ^@ NM_000383.3(AIRE):c.588C>T (p.Ser196=) http://identifiers.org/clinvar/128339 ^@ NM_000383.3(AIRE):c.681C>T (p.Gly227=) http://identifiers.org/clinvar/128340 ^@ NM_000383.3(AIRE):c.834C>G (p.Ser278Arg) http://identifiers.org/clinvar/128341 ^@ NM_001626.5(AKT2):c.861C>A (p.Gly287=) http://identifiers.org/clinvar/128342 ^@ NM_001626.5(AKT2):c.960G>A (p.Glu320=) http://identifiers.org/clinvar/128343 ^@ NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) http://identifiers.org/clinvar/128344 ^@ NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) http://identifiers.org/clinvar/128345 ^@ NM_001182.4(ALDH7A1):c.1234A>G (p.Thr412Ala) http://identifiers.org/clinvar/128346 ^@ NM_001182.4(ALDH7A1):c.1315A>C (p.Lys439Gln) http://identifiers.org/clinvar/128347 ^@ NM_001182.4(ALDH7A1):c.273T>C (p.Thr91=) http://identifiers.org/clinvar/128348 ^@ NM_001182.4(ALDH7A1):c.373A>G (p.Ile125Val) http://identifiers.org/clinvar/128349 ^@ NM_001182.4(ALDH7A1):c.675C>T (p.Leu225=) http://identifiers.org/clinvar/128350 ^@ NM_013339.3(ALG6):c.1135C>T (p.Pro379Ser) http://identifiers.org/clinvar/128351 ^@ NM_013339.3(ALG6):c.1442A>G (p.Asn481Ser) http://identifiers.org/clinvar/128352 ^@ NM_013339.3(ALG6):c.1465T>G (p.Phe489Val) http://identifiers.org/clinvar/128353 ^@ NM_013339.3(ALG6):c.726C>T (p.Phe242=) http://identifiers.org/clinvar/128354 ^@ NM_013339.3(ALG6):c.751A>G (p.Thr251Ala) http://identifiers.org/clinvar/128355 ^@ NM_013339.3(ALG6):c.981T>C (p.Phe327=) http://identifiers.org/clinvar/128356 ^@ NM_014324.5(AMACR):c.25G>A (p.Val9Met) http://identifiers.org/clinvar/128357 ^@ NM_014324.5(AMACR):c.524G>A (p.Gly175Asp) http://identifiers.org/clinvar/128358 ^@ NM_014324.5(AMACR):c.602T>C (p.Leu201Ser) http://identifiers.org/clinvar/128359 ^@ NM_014324.5(AMACR):c.717G>T (p.Gln239His) http://identifiers.org/clinvar/128360 ^@ NM_014324.5(AMACR):c.829G>A (p.Glu277Lys) http://identifiers.org/clinvar/128361 ^@ NM_020987.4(ANK3):c.11685C>T (p.Ser3895=) http://identifiers.org/clinvar/128362 ^@ NM_020987.4(ANK3):c.1218T>C (p.Ile406=) http://identifiers.org/clinvar/128363 ^@ NM_020987.4(ANK3):c.12769A>G (p.Ile4257Val) http://identifiers.org/clinvar/128364 ^@ NM_020987.4(ANK3):c.1491+6C>T http://identifiers.org/clinvar/128365 ^@ NM_020987.4(ANK3):c.2124T>C (p.Asp708=) http://identifiers.org/clinvar/128366 ^@ NM_020987.4(ANK3):c.2565T>C (p.Asn855=) http://identifiers.org/clinvar/128367 ^@ NM_020987.4(ANK3):c.2614+6del http://identifiers.org/clinvar/128368 ^@ NM_020987.4(ANK3):c.3045G>T (p.Thr1015=) http://identifiers.org/clinvar/128369 ^@ NM_020987.4(ANK3):c.382A>G (p.Thr128Ala) http://identifiers.org/clinvar/128370 ^@ NM_020987.4(ANK3):c.402T>C (p.Asn134=) http://identifiers.org/clinvar/128371 ^@ NM_020987.4(ANK3):c.4201-3T>C http://identifiers.org/clinvar/128372 ^@ NM_020987.4(ANK3):c.468C>G (p.Val156=) http://identifiers.org/clinvar/128373 ^@ NM_020987.4(ANK3):c.6066C>T (p.Ala2022=) http://identifiers.org/clinvar/128374 ^@ NM_020987.4(ANK3):c.7140C>T (p.His2380=) http://identifiers.org/clinvar/128375 ^@ NM_020987.4(ANK3):c.7225T>C (p.Ser2409Pro) http://identifiers.org/clinvar/128376 ^@ NM_020987.4(ANK3):c.756G>A (p.Thr252=) http://identifiers.org/clinvar/128377 ^@ NM_020987.4(ANK3):c.7715T>C (p.Ile2572Thr) http://identifiers.org/clinvar/128378 ^@ NM_020987.4(ANK3):c.8013C>T (p.Ser2671=) http://identifiers.org/clinvar/128379 ^@ NM_020987.4(ANK3):c.8655C>A (p.His2885Gln) http://identifiers.org/clinvar/128380 ^@ NM_020987.4(ANK3):c.8895T>C (p.Ala2965=) http://identifiers.org/clinvar/128381 ^@ NM_020987.4(ANK3):c.8988G>C (p.Gln2996His) http://identifiers.org/clinvar/128382 ^@ NM_020987.4(ANK3):c.909A>C (p.Thr303=) http://identifiers.org/clinvar/128383 ^@ NM_020987.4(ANK3):c.9137C>G (p.Thr3046Ser) http://identifiers.org/clinvar/128384 ^@ NM_020987.4(ANK3):c.9349A>G (p.Ile3117Val) http://identifiers.org/clinvar/128385 ^@ NM_020987.4(ANK3):c.9368A>G (p.Lys3123Arg) http://identifiers.org/clinvar/128386 ^@ NM_018075.4(ANO10):c.1066A>G (p.Ser356Gly) http://identifiers.org/clinvar/128387 ^@ NM_018075.4(ANO10):c.1385G>A (p.Arg462Gln) http://identifiers.org/clinvar/128388 ^@ NM_018075.4(ANO10):c.1682C>T (p.Thr561Met) http://identifiers.org/clinvar/128389 ^@ NM_213599.2(ANO5):c.2259A>G (p.Ser753=) http://identifiers.org/clinvar/128390 ^@ NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) http://identifiers.org/clinvar/128391 ^@ NM_213599.2(ANO5):c.616A>G (p.Thr206Ala) http://identifiers.org/clinvar/128392 ^@ NM_007347.4(AP4E1):c.1085A>G (p.Tyr362Cys) http://identifiers.org/clinvar/128393 ^@ NM_007347.4(AP4E1):c.1283A>G (p.Asn428Ser) http://identifiers.org/clinvar/128394 ^@ NM_007347.4(AP4E1):c.1419A>G (p.Leu473=) http://identifiers.org/clinvar/128395 ^@ NM_007347.4(AP4E1):c.2429C>T (p.Thr810Ile) http://identifiers.org/clinvar/128396 ^@ NM_007347.4(AP4E1):c.2495C>T (p.Ser832Leu) http://identifiers.org/clinvar/128397 ^@ NM_007347.4(AP4E1):c.257A>G (p.Tyr86Cys) http://identifiers.org/clinvar/128398 ^@ NM_007347.4(AP4E1):c.2755A>G (p.Met919Val) http://identifiers.org/clinvar/128399 ^@ NM_007347.4(AP4E1):c.2905-8A>G http://identifiers.org/clinvar/128400 ^@ NM_007347.4(AP4E1):c.3387G>A (p.Gln1129=) http://identifiers.org/clinvar/128401 ^@ NM_007347.4(AP4E1):c.487T>C (p.Cys163Arg) http://identifiers.org/clinvar/128402 ^@ NM_007347.4(AP4E1):c.613C>A (p.His205Asn) http://identifiers.org/clinvar/128403 ^@ NM_004722.3(AP4M1):c.1002C>T (p.Leu334=) http://identifiers.org/clinvar/128404 ^@ NM_004722.3(AP4M1):c.1305C>T (p.Asn435=) http://identifiers.org/clinvar/128405 ^@ NM_004722.3(AP4M1):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/128406 ^@ NM_007077.4(AP4S1):c.124C>A (p.Arg42=) http://identifiers.org/clinvar/128407 ^@ NM_007077.4(AP4S1):c.373A>G (p.Ile125Val) http://identifiers.org/clinvar/128408 ^@ NM_014855.2(AP5Z1):c.1124T>A (p.Leu375Gln) http://identifiers.org/clinvar/128409 ^@ NM_014855.2(AP5Z1):c.1131C>T (p.His377=) http://identifiers.org/clinvar/128410 ^@ NM_014855.2(AP5Z1):c.1197G>A (p.Glu399=) http://identifiers.org/clinvar/128411 ^@ NM_014855.2(AP5Z1):c.2098G>A (p.Val700Met) http://identifiers.org/clinvar/128412 ^@ NM_014855.2(AP5Z1):c.2379G>T (p.Thr793=) http://identifiers.org/clinvar/128413 ^@ NM_014855.2(AP5Z1):c.281C>G (p.Ser94Cys) http://identifiers.org/clinvar/128414 ^@ NM_014855.2(AP5Z1):c.333G>C (p.Gln111His) http://identifiers.org/clinvar/128415 ^@ NM_014855.2(AP5Z1):c.759C>T (p.Ser253=) http://identifiers.org/clinvar/128416 ^@ NM_000384.2(APOB):c.10913G>A (p.Arg3638Gln) http://identifiers.org/clinvar/128417 ^@ NM_000384.2(APOB):c.12541G>A (p.Glu4181Lys) http://identifiers.org/clinvar/128418 ^@ NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) http://identifiers.org/clinvar/128419 ^@ NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) http://identifiers.org/clinvar/128420 ^@ NM_000384.2(APOB):c.1853C>T (p.Ala618Val) http://identifiers.org/clinvar/128421 ^@ NM_000384.2(APOB):c.2188G>A (p.Val730Ile) http://identifiers.org/clinvar/128422 ^@ NM_000384.2(APOB):c.293C>T (p.Thr98Ile) http://identifiers.org/clinvar/128423 ^@ NM_000384.2(APOB):c.5768A>G (p.His1923Arg) http://identifiers.org/clinvar/128424 ^@ NM_000384.2(APOB):c.6936C>T (p.Asp2312=) http://identifiers.org/clinvar/128425 ^@ NM_000384.2(APOB):c.7545C>T (p.Thr2515=) http://identifiers.org/clinvar/128426 ^@ NM_000384.2(APOB):c.8216C>T (p.Pro2739Leu) http://identifiers.org/clinvar/128427 ^@ NM_006420.2(ARFGEF2):c.1275C>T (p.His425=) http://identifiers.org/clinvar/128428 ^@ NM_006420.2(ARFGEF2):c.2639C>T (p.Pro880Leu) http://identifiers.org/clinvar/128429 ^@ NM_006420.2(ARFGEF2):c.5023C>T (p.Arg1675Cys) http://identifiers.org/clinvar/128430 ^@ NM_006420.2(ARFGEF2):c.907+9C>T http://identifiers.org/clinvar/128431 ^@ NM_006420.2(ARFGEF2):c.1398T>C (p.Phe466=) http://identifiers.org/clinvar/128432 ^@ NM_006420.2(ARFGEF2):c.1644G>A (p.Glu548=) http://identifiers.org/clinvar/128433 ^@ NM_006420.2(ARFGEF2):c.169C>T (p.Pro57Ser) http://identifiers.org/clinvar/128434 ^@ NM_006420.2(ARFGEF2):c.2686-9C>T http://identifiers.org/clinvar/128435 ^@ NM_006420.2(ARFGEF2):c.2815-7G>A http://identifiers.org/clinvar/128436 ^@ NM_006420.2(ARFGEF2):c.3177G>A (p.Ser1059=) http://identifiers.org/clinvar/128437 ^@ NM_006420.2(ARFGEF2):c.3663T>C (p.Gly1221=) http://identifiers.org/clinvar/128438 ^@ NM_006420.2(ARFGEF2):c.4131C>T (p.Ile1377=) http://identifiers.org/clinvar/128439 ^@ NM_006420.2(ARFGEF2):c.4136T>C (p.Phe1379Ser) http://identifiers.org/clinvar/128440 ^@ NM_006420.2(ARFGEF2):c.423+3A>G http://identifiers.org/clinvar/128441 ^@ NM_006420.2(ARFGEF2):c.4462A>T (p.Thr1488Ser) http://identifiers.org/clinvar/128442 ^@ NM_006420.2(ARFGEF2):c.4939T>A (p.Ser1647Thr) http://identifiers.org/clinvar/128443 ^@ NM_006420.2(ARFGEF2):c.756C>A (p.Asn252Lys) http://identifiers.org/clinvar/128444 ^@ NM_006420.2(ARFGEF2):c.79C>T (p.Pro27Ser) http://identifiers.org/clinvar/128445 ^@ NM_006420.2(ARFGEF2):c.807C>T (p.Asp269=) http://identifiers.org/clinvar/128446 ^@ NM_006420.2(ARFGEF2):c.811C>G (p.Pro271Ala) http://identifiers.org/clinvar/128447 ^@ NM_004840.2(ARHGEF6):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/128448 ^@ NM_004840.2(ARHGEF6):c.1480-3T>C http://identifiers.org/clinvar/128449 ^@ NM_004840.2(ARHGEF6):c.2007C>T (p.Ser669=) http://identifiers.org/clinvar/128450 ^@ NM_015185.2(ARHGEF9):c.28A>G (p.Ile10Val) http://identifiers.org/clinvar/128451 ^@ NM_015185.2(ARHGEF9):c.654G>A (p.Gln218=) http://identifiers.org/clinvar/128452 ^@ NM_182896.2(ARL13B):c.1043C>G (p.Thr348Ser) http://identifiers.org/clinvar/128453 ^@ NM_182896.2(ARL13B):c.105C>T (p.Thr35=) http://identifiers.org/clinvar/128454 ^@ NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) http://identifiers.org/clinvar/128455 ^@ NM_000051.3(ATM):c.378T>A (p.Asp126Glu) http://identifiers.org/clinvar/128456 ^@ NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) http://identifiers.org/clinvar/128457 ^@ NM_000051.3(ATM):c.4578C>T (p.Pro1526=) http://identifiers.org/clinvar/128458 ^@ NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) http://identifiers.org/clinvar/128459 ^@ NM_000051.3(ATM):c.5793T>C (p.Ala1931=) http://identifiers.org/clinvar/128460 ^@ NM_000051.3(ATM):c.657T>C (p.Cys219=) http://identifiers.org/clinvar/128461 ^@ NM_001007026.1(ATN1):c.1647G>A (p.Leu549=) http://identifiers.org/clinvar/128462 ^@ NM_001007026.1(ATN1):c.2430C>A (p.Arg810=) http://identifiers.org/clinvar/128463 ^@ NM_022089.3(ATP13A2):c.1005C>T (p.Ala335=) http://identifiers.org/clinvar/128464 ^@ NM_022089.3(ATP13A2):c.1617G>T (p.Leu539=) http://identifiers.org/clinvar/128465 ^@ NM_022089.3(ATP13A2):c.1815C>T (p.Pro605=) http://identifiers.org/clinvar/128466 ^@ NM_022089.3(ATP13A2):c.2637C>T (p.Gly879=) http://identifiers.org/clinvar/128467 ^@ NM_022089.3(ATP13A2):c.2724G>A (p.Ser908=) http://identifiers.org/clinvar/128468 ^@ NM_022089.3(ATP13A2):c.2790G>A (p.Ser930=) http://identifiers.org/clinvar/128469 ^@ NM_022089.3(ATP13A2):c.2836A>T (p.Ile946Phe) http://identifiers.org/clinvar/128470 ^@ NM_022089.3(ATP13A2):c.2970G>A (p.Val990=) http://identifiers.org/clinvar/128471 ^@ NM_022089.3(ATP13A2):c.3084-3C>T http://identifiers.org/clinvar/128472 ^@ NM_022089.3(ATP13A2):c.3144C>G (p.Thr1048=) http://identifiers.org/clinvar/128473 ^@ NM_022089.3(ATP13A2):c.3192C>T (p.Ala1064=) http://identifiers.org/clinvar/128474 ^@ NM_022089.3(ATP13A2):c.3430G>A (p.Ala1144Thr) http://identifiers.org/clinvar/128475 ^@ NM_022089.3(ATP13A2):c.3516G>A (p.Pro1172=) http://identifiers.org/clinvar/128476 ^@ NM_022089.3(ATP13A2):c.881G>A (p.Arg294Gln) http://identifiers.org/clinvar/128477 ^@ NM_000702.3(ATP1A2):c.1119G>A (p.Ser373=) http://identifiers.org/clinvar/128478 ^@ NM_000702.3(ATP1A2):c.129G>A (p.Lys43=) http://identifiers.org/clinvar/128479 ^@ NM_000702.3(ATP1A2):c.1704C>T (p.Phe568=) http://identifiers.org/clinvar/128480 ^@ NM_000702.3(ATP1A2):c.1980C>T (p.Cys660=) http://identifiers.org/clinvar/128481 ^@ NM_000702.3(ATP1A2):c.2259C>T (p.Ala753=) http://identifiers.org/clinvar/128482 ^@ NM_000702.3(ATP1A2):c.2520G>A (p.Lys840=) http://identifiers.org/clinvar/128483 ^@ NM_000702.3(ATP1A2):c.2563+4C>T http://identifiers.org/clinvar/128484 ^@ NM_000702.3(ATP1A2):c.2961C>T (p.Cys987=) http://identifiers.org/clinvar/128485 ^@ NM_000702.3(ATP1A2):c.340G>A (p.Gly114Ser) http://identifiers.org/clinvar/128486 ^@ NM_005765.2(ATP6AP2):c.285G>A (p.Ser95=) http://identifiers.org/clinvar/128487 ^@ NM_005765.2(ATP6AP2):c.868G>C (p.Ala290Pro) http://identifiers.org/clinvar/128488 ^@ NM_016529.5(ATP8A2):c.144A>C (p.Gly48=) http://identifiers.org/clinvar/128489 ^@ NM_016529.5(ATP8A2):c.1683C>T (p.Phe561=) http://identifiers.org/clinvar/128490 ^@ NM_016529.5(ATP8A2):c.2286G>C (p.Leu762=) http://identifiers.org/clinvar/128491 ^@ NM_000489.4(ATRX):c.1438A>G (p.Thr480Ala) http://identifiers.org/clinvar/128492 ^@ NM_000489.4(ATRX):c.3395T>C (p.Ile1132Thr) http://identifiers.org/clinvar/128494 ^@ NM_000489.4(ATRX):c.134-3T>A http://identifiers.org/clinvar/128495 ^@ NM_000489.4(ATRX):c.228G>A (p.Ser76=) http://identifiers.org/clinvar/128496 ^@ NM_000489.4(ATRX):c.2806G>C (p.Val936Leu) http://identifiers.org/clinvar/128497 ^@ NM_000489.4(ATRX):c.4350_4352delAGA (p.Glu1464del) http://identifiers.org/clinvar/128498 ^@ NM_000332.3(ATXN1):c.1212A>G (p.Glu404=) http://identifiers.org/clinvar/128499 ^@ NM_000332.3(ATXN1):c.2257C>T (p.Pro753Ser) http://identifiers.org/clinvar/128500 ^@ NM_000332.3(ATXN1):c.474A>G (p.Ala158=) http://identifiers.org/clinvar/128501 ^@ NM_000332.3(ATXN1):c.633T>G (p.His211Gln) http://identifiers.org/clinvar/128502 ^@ NM_000332.3(ATXN1):c.639G>T (p.Gln213His) http://identifiers.org/clinvar/128503 ^@ NM_000332.3(ATXN1):c.645G>T (p.Gln215His) http://identifiers.org/clinvar/128504 ^@ NM_000332.3(ATXN1):c.675G>C (p.Gln225His) http://identifiers.org/clinvar/128505 ^@ NM_000332.3(ATXN1):c.927T>C (p.Ala309=) http://identifiers.org/clinvar/128506 ^@ NM_000332.3(ATXN1):c.927T>G (p.Ala309=) http://identifiers.org/clinvar/128507 ^@ NM_002973.3(ATXN2):c.319C>G (p.Leu107Val) http://identifiers.org/clinvar/128508 ^@ NM_002973.3(ATXN2):c.390C>T (p.Arg130=) http://identifiers.org/clinvar/128509 ^@ NM_002973.3(ATXN2):c.522G>A (p.Gln174=) http://identifiers.org/clinvar/128510 ^@ NM_004993.5(ATXN3):c.492C>T (p.Val164=) http://identifiers.org/clinvar/128511 ^@ NM_004993.5(ATXN3):c.634G>A (p.Val212Met) http://identifiers.org/clinvar/128512 ^@ NM_004993.5(ATXN3):c.882A>G (p.Gln294=) http://identifiers.org/clinvar/128513 ^@ NM_004993.5(ATXN3):c.883A>C (p.Lys295Gln) http://identifiers.org/clinvar/128514 ^@ NM_004993.5(ATXN3):c.891A>G (p.Gln297=) http://identifiers.org/clinvar/128515 ^@ NM_004993.5(ATXN3):c.916G>C (p.Gly306Arg) http://identifiers.org/clinvar/128516 ^@ NM_000333.3(ATXN7):c.2137C>T (p.Leu713=) http://identifiers.org/clinvar/128517 ^@ NM_000333.3(ATXN7):c.2178T>C (p.Ser726=) http://identifiers.org/clinvar/128518 ^@ NM_000333.3(ATXN7):c.2584G>A (p.Val862Met) http://identifiers.org/clinvar/128519 ^@ NM_000333.3(ATXN7):c.791A>G (p.Lys264Arg) http://identifiers.org/clinvar/128520 ^@ NM_001698.2(AUH):c.483A>C (p.Ile161=) http://identifiers.org/clinvar/128521 ^@ NM_005881.3(BCKDK):c.615G>A (p.Thr205=) http://identifiers.org/clinvar/128522 ^@ NM_005881.3(BCKDK):c.845+10C>T http://identifiers.org/clinvar/128523 ^@ NM_017745.5(BCOR):c.1779C>A (p.Ser593=) http://identifiers.org/clinvar/128524 ^@ NM_001715.2(BLK):c.139C>G (p.Leu47Val) http://identifiers.org/clinvar/128525 ^@ NM_001715.2(BLK):c.102C>T (p.Asp34=) http://identifiers.org/clinvar/128526 ^@ NM_001715.2(BLK):c.258G>A (p.Gln86=) http://identifiers.org/clinvar/128527 ^@ NM_001715.2(BLK):c.330T>C (p.Ser110=) http://identifiers.org/clinvar/128528 ^@ NM_001715.2(BLK):c.435C>T (p.Ala145=) http://identifiers.org/clinvar/128529 ^@ NM_001715.2(BLK):c.843T>C (p.Phe281=) http://identifiers.org/clinvar/128530 ^@ NM_000057.3(BLM):c.3961G>A (p.Val1321Ile) http://identifiers.org/clinvar/128531 ^@ NM_153252.4(BRWD3):c.5100T>C (p.Gly1700=) http://identifiers.org/clinvar/128532 ^@ NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) http://identifiers.org/clinvar/128533 ^@ NM_032667.6(BSCL2):c.945A>G (p.Glu315=) http://identifiers.org/clinvar/128535 ^@ NM_152269.4(C12orf65):c.44G>A (p.Arg15Gln) http://identifiers.org/clinvar/128537 ^@ NM_001031726.3(C19orf12):c.357C>T (p.Thr119=) http://identifiers.org/clinvar/128538 ^@ NM_001031726.3(C19orf12):c.425A>C (p.Lys142Thr) http://identifiers.org/clinvar/128539 ^@ NM_004056.5(CA8):c.299C>T (p.Ser100Leu) http://identifiers.org/clinvar/128540 ^@ NM_004056.5(CA8):c.327A>G (p.Glu109=) http://identifiers.org/clinvar/128541 ^@ NM_004056.5(CA8):c.334C>T (p.Leu112=) http://identifiers.org/clinvar/128542 ^@ NM_004056.5(CA8):c.66A>G (p.Glu22=) http://identifiers.org/clinvar/128543 ^@ NM_001127221.1(CACNA1A):c.1038C>T (p.Ile346=) http://identifiers.org/clinvar/128544 ^@ NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) http://identifiers.org/clinvar/128545 ^@ NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) http://identifiers.org/clinvar/128546 ^@ NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) http://identifiers.org/clinvar/128547 ^@ NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) http://identifiers.org/clinvar/128548 ^@ NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) http://identifiers.org/clinvar/128549 ^@ NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) http://identifiers.org/clinvar/128550 ^@ NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) http://identifiers.org/clinvar/128551 ^@ NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) http://identifiers.org/clinvar/128552 ^@ NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) http://identifiers.org/clinvar/128553 ^@ NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) http://identifiers.org/clinvar/128554 ^@ NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) http://identifiers.org/clinvar/128555 ^@ NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) http://identifiers.org/clinvar/128556 ^@ NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) http://identifiers.org/clinvar/128557 ^@ NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) http://identifiers.org/clinvar/128558 ^@ NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) http://identifiers.org/clinvar/128559 ^@ NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) http://identifiers.org/clinvar/128560 ^@ NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) http://identifiers.org/clinvar/128561 ^@ NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) http://identifiers.org/clinvar/128562 ^@ NM_000726.4(CACNB4):c.1303-3T>C http://identifiers.org/clinvar/128563 ^@ NM_000726.4(CACNB4):c.762T>A (p.Ile254=) http://identifiers.org/clinvar/128564 ^@ NM_015215.3(CAMTA1):c.1350G>A (p.Ser450=) http://identifiers.org/clinvar/128565 ^@ NM_015215.3(CAMTA1):c.3531C>G (p.Asn1177Lys) http://identifiers.org/clinvar/128566 ^@ NM_015215.3(CAMTA1):c.981C>T (p.Asn327=) http://identifiers.org/clinvar/128567 ^@ NM_000070.2(CAPN3):c.1355-6G>A http://identifiers.org/clinvar/128568 ^@ NM_000070.2(CAPN3):c.1830C>T (p.Asn610=) http://identifiers.org/clinvar/128569 ^@ NM_000070.2(CAPN3):c.2207_2208delCA (p.Thr736Argfs) http://identifiers.org/clinvar/128570 ^@ NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) http://identifiers.org/clinvar/128571 ^@ NM_000070.2(CAPN3):c.371G>C (p.Gly124Ala) http://identifiers.org/clinvar/128572 ^@ NM_000070.2(CAPN3):c.551C>T (p.Thr184Met) http://identifiers.org/clinvar/128573 ^@ NM_000070.2(CAPN3):c.606T>C (p.Ser202=) http://identifiers.org/clinvar/128574 ^@ NM_000070.2(CAPN3):c.78G>A (p.Pro26=) http://identifiers.org/clinvar/128575 ^@ NM_000070.2(CAPN3):c.939G>A (p.Pro313=) http://identifiers.org/clinvar/128576 ^@ NM_170589.4(KNL1):c.-2_1delAAA http://identifiers.org/clinvar/128577 ^@ NM_170589.4(KNL1):c.1571T>A (p.Ile524Asn) http://identifiers.org/clinvar/128578 ^@ NM_170589.4(KNL1):c.2092A>C (p.Ile698Leu) http://identifiers.org/clinvar/128579 ^@ NM_170589.4(KNL1):c.2893A>T (p.Met965Leu) http://identifiers.org/clinvar/128580 ^@ NM_170589.4(KNL1):c.305G>A (p.Arg102Gln) http://identifiers.org/clinvar/128581 ^@ NM_170589.4(KNL1):c.331A>G (p.Thr111Ala) http://identifiers.org/clinvar/128582 ^@ NM_170589.4(KNL1):c.3888G>A (p.Ala1296=) http://identifiers.org/clinvar/128583 ^@ NM_170589.4(KNL1):c.5600G>A (p.Arg1867His) http://identifiers.org/clinvar/128584 ^@ NM_170589.4(KNL1):c.5709C>T (p.Leu1903=) http://identifiers.org/clinvar/128585 ^@ NM_170589.4(KNL1):c.1207A>G (p.Ile403Val) http://identifiers.org/clinvar/128586 ^@ NM_170589.4(KNL1):c.128G>C (p.Arg43Thr) http://identifiers.org/clinvar/128587 ^@ NM_170589.4(KNL1):c.1377T>C (p.Cys459=) http://identifiers.org/clinvar/128588 ^@ NM_170589.4(KNL1):c.1456G>T (p.Ala486Ser) http://identifiers.org/clinvar/128589 ^@ NM_170589.4(KNL1):c.1793T>C (p.Met598Thr) http://identifiers.org/clinvar/128590 ^@ NM_170589.4(KNL1):c.2388C>T (p.Val796=) http://identifiers.org/clinvar/128591 ^@ NM_170589.4(KNL1):c.2447C>G (p.Thr816Ser) http://identifiers.org/clinvar/128592 ^@ NM_170589.4(KNL1):c.245T>C (p.Met82Thr) http://identifiers.org/clinvar/128593 ^@ NM_170589.4(KNL1):c.2661T>G (p.Thr887=) http://identifiers.org/clinvar/128594 ^@ NM_170589.4(KNL1):c.2862T>C (p.Thr954=) http://identifiers.org/clinvar/128595 ^@ NM_170589.4(KNL1):c.337A>G (p.Thr113Ala) http://identifiers.org/clinvar/128596 ^@ NM_170589.4(KNL1):c.3510T>C (p.Asn1170=) http://identifiers.org/clinvar/128597 ^@ NM_170589.4(KNL1):c.3827C>T (p.Ala1276Val) http://identifiers.org/clinvar/128598 ^@ NM_170589.4(KNL1):c.3853A>G (p.Lys1285Glu) http://identifiers.org/clinvar/128599 ^@ NM_170589.4(KNL1):c.4248T>A (p.Asp1416Glu) http://identifiers.org/clinvar/128600 ^@ NM_170589.4(KNL1):c.4417A>G (p.Thr1473Ala) http://identifiers.org/clinvar/128601 ^@ NM_170589.4(KNL1):c.4418C>T (p.Thr1473Ile) http://identifiers.org/clinvar/128602 ^@ NM_170589.4(KNL1):c.4457T>C (p.Ile1486Thr) http://identifiers.org/clinvar/128603 ^@ NM_170589.4(KNL1):c.5009A>G (p.Lys1670Arg) http://identifiers.org/clinvar/128604 ^@ NM_170589.4(KNL1):c.5229T>C (p.Pro1743=) http://identifiers.org/clinvar/128605 ^@ NM_170589.4(KNL1):c.6172+4_6172+8del http://identifiers.org/clinvar/128606 ^@ NM_170589.4(KNL1):c.6412G>A (p.Val2138Ile) http://identifiers.org/clinvar/128607 ^@ NM_170589.4(KNL1):c.805A>G (p.Ile269Val) http://identifiers.org/clinvar/128608 ^@ NM_170589.4(KNL1):c.89C>T (p.Pro30Leu) http://identifiers.org/clinvar/128609 ^@ NM_001753.4(CAV1):c.401_402delTTinsA (p.Ile134Lysfs) http://identifiers.org/clinvar/128610 ^@ NM_001753.4(CAV1):c.156C>T (p.Val52=) http://identifiers.org/clinvar/128612 ^@ NM_017721.4(CC2D1A):c.513+6_513+12del http://identifiers.org/clinvar/128613 ^@ NM_017721.4(CC2D1A):c.1015A>C (p.Thr339Pro) http://identifiers.org/clinvar/128614 ^@ NM_017721.4(CC2D1A):c.1192G>A (p.Val398Met) http://identifiers.org/clinvar/128615 ^@ NM_017721.4(CC2D1A):c.1281T>C (p.Gly427=) http://identifiers.org/clinvar/128616 ^@ NM_017721.4(CC2D1A):c.1549G>A (p.Val517Met) http://identifiers.org/clinvar/128617 ^@ NM_017721.4(CC2D1A):c.1634T>C (p.Ile545Thr) http://identifiers.org/clinvar/128618 ^@ NM_017721.4(CC2D1A):c.1739C>T (p.Thr580Ile) http://identifiers.org/clinvar/128619 ^@ NM_017721.4(CC2D1A):c.2402C>T (p.Thr801Met) http://identifiers.org/clinvar/128620 ^@ NM_017721.4(CC2D1A):c.252G>A (p.Pro84=) http://identifiers.org/clinvar/128621 ^@ NM_017721.4(CC2D1A):c.2707C>T (p.Arg903Trp) http://identifiers.org/clinvar/128622 ^@ NM_017721.4(CC2D1A):c.2716G>A (p.Ala906Thr) http://identifiers.org/clinvar/128623 ^@ NM_017721.4(CC2D1A):c.566C>T (p.Ala189Val) http://identifiers.org/clinvar/128624 ^@ NM_017721.4(CC2D1A):c.980C>T (p.Ser327Leu) http://identifiers.org/clinvar/128625 ^@ NM_014008.4(CCDC22):c.161G>C (p.Ser54Thr) http://identifiers.org/clinvar/128626 ^@ NM_014008.4(CCDC22):c.1636G>A (p.Asp546Asn) http://identifiers.org/clinvar/128627 ^@ NM_014008.4(CCDC22):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/128628 ^@ NM_014008.4(CCDC22):c.972G>C (p.Gln324His) http://identifiers.org/clinvar/128629 ^@ NM_001031737.2(CCDC78):c.549G>A (p.Leu183=) http://identifiers.org/clinvar/128630 ^@ NM_001031737.2(CCDC78):c.712A>C (p.Lys238Gln) http://identifiers.org/clinvar/128631 ^@ NM_001031737.2(CCDC78):c.754T>C (p.Trp252Arg) http://identifiers.org/clinvar/128632 ^@ NM_001031737.2(CCDC78):c.803C>T (p.Thr268Met) http://identifiers.org/clinvar/128633 ^@ NM_001031737.2(CCDC78):c.937C>T (p.Leu313=) http://identifiers.org/clinvar/128634 ^@ NM_001031737.2(CCDC78):c.966C>A (p.Asn322Lys) http://identifiers.org/clinvar/128635 ^@ NM_001254.3(CDC6):c.1321G>A (p.Val441Ile) http://identifiers.org/clinvar/128636 ^@ NM_001254.3(CDC6):c.438T>C (p.Cys146=) http://identifiers.org/clinvar/128637 ^@ NM_001254.3(CDC6):c.790A>G (p.Met264Val) http://identifiers.org/clinvar/128638 ^@ NM_001254.3(CDC6):c.883G>A (p.Asp295Asn) http://identifiers.org/clinvar/128639 ^@ NM_001254.3(CDC6):c.896C>T (p.Thr299Met) http://identifiers.org/clinvar/128640 ^@ NM_004933.2(CDH15):c.227G>A (p.Gly76Asp) http://identifiers.org/clinvar/128641 ^@ NM_004933.2(CDH15):c.1023G>A (p.Ser341=) http://identifiers.org/clinvar/128642 ^@ NM_004933.2(CDH15):c.109G>T (p.Ala37Ser) http://identifiers.org/clinvar/128643 ^@ NM_004933.2(CDH15):c.153G>A (p.Pro51=) http://identifiers.org/clinvar/128644 ^@ NM_004933.2(CDH15):c.171C>T (p.Asn57=) http://identifiers.org/clinvar/128645 ^@ NM_004933.2(CDH15):c.174C>T (p.His58=) http://identifiers.org/clinvar/128646 ^@ NM_004933.2(CDH15):c.1750A>C (p.Lys584Gln) http://identifiers.org/clinvar/128647 ^@ NM_004933.2(CDH15):c.1971A>G (p.Gln657=) http://identifiers.org/clinvar/128648 ^@ NM_004933.2(CDH15):c.2025G>A (p.Pro675=) http://identifiers.org/clinvar/128649 ^@ NM_004933.2(CDH15):c.2353G>A (p.Gly785Arg) http://identifiers.org/clinvar/128650 ^@ NM_004933.2(CDH15):c.2364C>A (p.Tyr788Ter) http://identifiers.org/clinvar/128651 ^@ NM_004933.2(CDH15):c.264T>C (p.Asp88=) http://identifiers.org/clinvar/128652 ^@ NM_004933.2(CDH15):c.387A>G (p.Gly129=) http://identifiers.org/clinvar/128653 ^@ NM_004933.2(CDH15):c.598G>A (p.Glu200Lys) http://identifiers.org/clinvar/128654 ^@ NM_004933.2(CDH15):c.615C>T (p.Asp205=) http://identifiers.org/clinvar/128655 ^@ NM_004933.2(CDH15):c.671C>T (p.Ala224Val) http://identifiers.org/clinvar/128656 ^@ NM_004933.2(CDH15):c.718C>T (p.Leu240Phe) http://identifiers.org/clinvar/128657 ^@ NM_004933.2(CDH15):c.782C>A (p.Thr261Asn) http://identifiers.org/clinvar/128658 ^@ NM_004933.2(CDH15):c.788A>G (p.Asp263Gly) http://identifiers.org/clinvar/128659 ^@ NM_030928.3(CDT1):c.1030G>A (p.Glu344Lys) http://identifiers.org/clinvar/128660 ^@ NM_030928.3(CDT1):c.111C>T (p.Leu37=) http://identifiers.org/clinvar/128661 ^@ NM_030928.3(CDT1):c.1221G>A (p.Pro407=) http://identifiers.org/clinvar/128662 ^@ NM_030928.3(CDT1):c.1631A>T (p.Glu544Val) http://identifiers.org/clinvar/128663 ^@ NM_030928.3(CDT1):c.*6G>C http://identifiers.org/clinvar/128664 ^@ NM_030928.3(CDT1):c.832+1G>A http://identifiers.org/clinvar/128665 ^@ NM_030928.3(CDT1):c.900G>C (p.Gln300His) http://identifiers.org/clinvar/128666 ^@ NM_030928.3(CDT1):c.1179G>C (p.Gly393=) http://identifiers.org/clinvar/128667 ^@ NM_030928.3(CDT1):c.130A>C (p.Thr44Pro) http://identifiers.org/clinvar/128668 ^@ NM_030928.3(CDT1):c.1367A>C (p.Glu456Ala) http://identifiers.org/clinvar/128669 ^@ NM_030928.3(CDT1):c.1377C>T (p.Arg459=) http://identifiers.org/clinvar/128670 ^@ NM_030928.3(CDT1):c.1500G>T (p.Leu500=) http://identifiers.org/clinvar/128671 ^@ NM_030928.3(CDT1):c.1521G>A (p.Pro507=) http://identifiers.org/clinvar/128672 ^@ NM_030928.3(CDT1):c.1581G>A (p.Ala527=) http://identifiers.org/clinvar/128673 ^@ NM_030928.3(CDT1):c.1587C>G (p.Leu529=) http://identifiers.org/clinvar/128674 ^@ NM_030928.3(CDT1):c.1610C>T (p.Ala537Val) http://identifiers.org/clinvar/128675 ^@ NM_030928.3(CDT1):c.243T>C (p.Ser81=) http://identifiers.org/clinvar/128676 ^@ NM_030928.3(CDT1):c.404C>T (p.Ala135Val) http://identifiers.org/clinvar/128677 ^@ NM_030928.3(CDT1):c.435G>A (p.Gln145=) http://identifiers.org/clinvar/128678 ^@ NM_030928.3(CDT1):c.514C>T (p.Arg172Cys) http://identifiers.org/clinvar/128679 ^@ NM_030928.3(CDT1):c.549A>G (p.Gly183=) http://identifiers.org/clinvar/128680 ^@ NM_030928.3(CDT1):c.700T>C (p.Cys234Arg) http://identifiers.org/clinvar/128681 ^@ NM_030928.3(CDT1):c.742C>T (p.Arg248Cys) http://identifiers.org/clinvar/128682 ^@ NM_030928.3(CDT1):c.784A>G (p.Thr262Ala) http://identifiers.org/clinvar/128683 ^@ NM_030928.3(CDT1):c.915T>C (p.His305=) http://identifiers.org/clinvar/128684 ^@ NM_001807.4(CEL):c.362T>G (p.Leu121Arg) http://identifiers.org/clinvar/128685 ^@ NM_001807.4(CEL):c.1719C>T (p.Pro573=) http://identifiers.org/clinvar/128686 ^@ NM_001807.4(CEL):c.1941G>C (p.Gly647=) http://identifiers.org/clinvar/128687 ^@ NM_001807.4(CEL):c.1969T>G (p.Ser657Ala) http://identifiers.org/clinvar/128688 ^@ NM_001807.4(CEL):c.1975G>C (p.Ala659Pro) http://identifiers.org/clinvar/128689 ^@ NM_001807.4(CEL):c.2007C>G (p.Gly669=) http://identifiers.org/clinvar/128690 ^@ NM_001807.4(CEL):c.2073C>G (p.Gly691=) http://identifiers.org/clinvar/128691 ^@ NM_001807.4(CEL):c.2101T>G (p.Ser701Ala) http://identifiers.org/clinvar/128692 ^@ NM_025009.4(CEP135):c.1220G>A (p.Ser407Asn) http://identifiers.org/clinvar/128693 ^@ NM_025009.4(CEP135):c.2435C>T (p.Ser812Phe) http://identifiers.org/clinvar/128694 ^@ NM_025009.4(CEP135):c.1675G>A (p.Ala559Thr) http://identifiers.org/clinvar/128695 ^@ NM_025009.4(CEP135):c.1744A>G (p.Met582Val) http://identifiers.org/clinvar/128696 ^@ NM_025009.4(CEP135):c.2305A>C (p.Ile769Leu) http://identifiers.org/clinvar/128697 ^@ NM_025009.4(CEP135):c.2724A>G (p.Arg908=) http://identifiers.org/clinvar/128698 ^@ NM_025009.4(CEP135):c.2755A>C (p.Arg919=) http://identifiers.org/clinvar/128699 ^@ NM_025009.4(CEP135):c.2976C>G (p.Thr992=) http://identifiers.org/clinvar/128700 ^@ NM_025009.4(CEP135):c.297C>T (p.His99=) http://identifiers.org/clinvar/128701 ^@ NM_025009.4(CEP135):c.2990C>T (p.Ser997Leu) http://identifiers.org/clinvar/128702 ^@ NM_025009.4(CEP135):c.3075T>C (p.Asn1025=) http://identifiers.org/clinvar/128703 ^@ NM_025009.4(CEP135):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/128704 ^@ NM_018718.2(CEP41):c.1081T>C (p.Ser361Pro) http://identifiers.org/clinvar/128705 ^@ NM_018718.2(CEP41):c.718T>G (p.Cys240Gly) http://identifiers.org/clinvar/128706 ^@ NM_025180.3(CEP63):c.1067+7A>G http://identifiers.org/clinvar/128707 ^@ NM_025180.3(CEP63):c.1155C>A (p.Asn385Lys) http://identifiers.org/clinvar/128708 ^@ NM_025180.3(CEP63):c.1952C>T (p.Ser651Leu) http://identifiers.org/clinvar/128709 ^@ NM_025180.3(CEP63):c.555G>C (p.Gln185His) http://identifiers.org/clinvar/128710 ^@ NM_025180.3(CEP63):c.567C>A (p.Val189=) http://identifiers.org/clinvar/128711 ^@ NM_025180.3(CEP63):c.5A>T (p.Glu2Val) http://identifiers.org/clinvar/128712 ^@ NM_025180.3(CEP63):c.63T>C (p.Cys21=) http://identifiers.org/clinvar/128713 ^@ NM_021914.7(CFL2):c.457T>G (p.Leu153Val) http://identifiers.org/clinvar/128714 ^@ NM_000492.3(CFTR):c.4118G>T (p.Ser1373Ile) http://identifiers.org/clinvar/128715 ^@ NM_020549.4(CHAT):c.1122C>T (p.Asn374=) http://identifiers.org/clinvar/128716 ^@ NM_020549.4(CHAT):c.1131G>A (p.Ser377=) http://identifiers.org/clinvar/128717 ^@ NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) http://identifiers.org/clinvar/128718 ^@ NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) http://identifiers.org/clinvar/128719 ^@ NM_020549.4(CHAT):c.1641T>C (p.His547=) http://identifiers.org/clinvar/128720 ^@ NM_020549.4(CHAT):c.1674C>T (p.Ser558=) http://identifiers.org/clinvar/128721 ^@ NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) http://identifiers.org/clinvar/128722 ^@ NM_020549.4(CHAT):c.2067C>T (p.Ile689=) http://identifiers.org/clinvar/128723 ^@ NM_020549.4(CHAT):c.25A>G (p.Arg9Gly) http://identifiers.org/clinvar/128724 ^@ NM_020549.4(CHAT):c.358G>A (p.Ala120Thr) http://identifiers.org/clinvar/128725 ^@ NM_020549.4(CHAT):c.711C>G (p.Ser237Arg) http://identifiers.org/clinvar/128726 ^@ NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) http://identifiers.org/clinvar/128727 ^@ NM_020549.4(CHAT):c.903T>C (p.Pro301=) http://identifiers.org/clinvar/128728 ^@ NM_005198.4(CHKB):c.216C>T (p.Tyr72=) http://identifiers.org/clinvar/128729 ^@ NM_005198.4(CHKB):c.333+10G>T http://identifiers.org/clinvar/128730 ^@ NM_005198.4(CHKB):c.983A>G (p.Gln328Arg) http://identifiers.org/clinvar/128731 ^@ NM_002768.4(CHMP1A):c.382-8G>T http://identifiers.org/clinvar/128732 ^@ NM_002768.4(CHMP1A):c.51G>A (p.Lys17=) http://identifiers.org/clinvar/128733 ^@ NM_000079.3(CHRNA1):c.1073A>T (p.Asp358Val) http://identifiers.org/clinvar/128734 ^@ NM_000079.3(CHRNA1):c.540+4G>C http://identifiers.org/clinvar/128735 ^@ NM_000079.3(CHRNA1):c.960C>T (p.His320=) http://identifiers.org/clinvar/128736 ^@ NM_000742.3(CHRNA2):c.1234G>A (p.Glu412Lys) http://identifiers.org/clinvar/128737 ^@ NM_000742.3(CHRNA2):c.1324C>T (p.Leu442=) http://identifiers.org/clinvar/128738 ^@ NM_000742.3(CHRNA2):c.351C>T (p.Asp117=) http://identifiers.org/clinvar/128739 ^@ NM_000742.3(CHRNA2):c.373A>G (p.Thr125Ala) http://identifiers.org/clinvar/128740 ^@ NM_000742.3(CHRNA2):c.65C>T (p.Thr22Ile) http://identifiers.org/clinvar/128741 ^@ NM_000742.3(CHRNA2):c.771C>T (p.Tyr257=) http://identifiers.org/clinvar/128742 ^@ NM_000742.3(CHRNA2):c.913C>T (p.Leu305=) http://identifiers.org/clinvar/128743 ^@ NM_000744.6(CHRNA4):c.1047G>A (p.Leu349=) http://identifiers.org/clinvar/128744 ^@ NM_000744.6(CHRNA4):c.1143C>T (p.Ala381=) http://identifiers.org/clinvar/128745 ^@ NM_000744.6(CHRNA4):c.1353G>A (p.Pro451=) http://identifiers.org/clinvar/128746 ^@ NM_000744.6(CHRNA4):c.1525G>A (p.Ala509Thr) http://identifiers.org/clinvar/128747 ^@ NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) http://identifiers.org/clinvar/128748 ^@ NM_000744.6(CHRNA4):c.24G>C (p.Ala8=) http://identifiers.org/clinvar/128749 ^@ NM_000744.6(CHRNA4):c.639T>C (p.Asp213=) http://identifiers.org/clinvar/128750 ^@ NM_000744.6(CHRNA4):c.678T>C (p.Cys226=) http://identifiers.org/clinvar/128751 ^@ NM_000747.2(CHRNB1):c.1259T>C (p.Ile420Thr) http://identifiers.org/clinvar/128752 ^@ NM_000747.2(CHRNB1):c.610+6T>C http://identifiers.org/clinvar/128753 ^@ NM_000747.2(CHRNB1):c.821-9C>T http://identifiers.org/clinvar/128754 ^@ NM_000747.2(CHRNB1):c.95A>G (p.Glu32Gly) http://identifiers.org/clinvar/128755 ^@ NM_000751.2(CHRND):c.1047+9T>C http://identifiers.org/clinvar/128756 ^@ NM_000751.2(CHRND):c.120G>A (p.Lys40=) http://identifiers.org/clinvar/128757 ^@ NM_000751.2(CHRND):c.12A>G (p.Pro4=) http://identifiers.org/clinvar/128758 ^@ NM_000751.2(CHRND):c.243C>T (p.His81=) http://identifiers.org/clinvar/128759 ^@ NM_000751.2(CHRND):c.408C>T (p.Tyr136=) http://identifiers.org/clinvar/128760 ^@ NM_000080.3(CHRNE):c.1017C>G (p.Ser339=) http://identifiers.org/clinvar/128761 ^@ NM_000080.3(CHRNE):c.1033-6C>T http://identifiers.org/clinvar/128762 ^@ NM_000080.3(CHRNE):c.1293C>T (p.Ala431=) http://identifiers.org/clinvar/128763 ^@ NM_000080.3(CHRNE):c.1305A>G (p.Arg435=) http://identifiers.org/clinvar/128764 ^@ NM_000080.3(CHRNE):c.1402G>C (p.Val468Leu) http://identifiers.org/clinvar/128765 ^@ NM_000080.3(CHRNE):c.345-7C>T http://identifiers.org/clinvar/128766 ^@ NM_000080.3(CHRNE):c.45C>T (p.Leu15=) http://identifiers.org/clinvar/128767 ^@ NM_000080.3(CHRNE):c.519C>T (p.Ala173=) http://identifiers.org/clinvar/128768 ^@ NM_000080.3(CHRNE):c.53G>T (p.Gly18Val) http://identifiers.org/clinvar/128769 ^@ NM_130468.3(CHST14):c.*6G>A http://identifiers.org/clinvar/128770 ^@ NM_022094.3(CIDEC):c.146C>T (p.Thr49Met) http://identifiers.org/clinvar/128771 ^@ NM_022094.3(CIDEC):c.181T>C (p.Tyr61His) http://identifiers.org/clinvar/128772 ^@ NM_022094.3(CIDEC):c.33C>G (p.Leu11=) http://identifiers.org/clinvar/128773 ^@ NM_022094.3(CIDEC):c.600C>T (p.His200=) http://identifiers.org/clinvar/128774 ^@ NM_022094.3(CIDEC):c.96G>T (p.Leu32=) http://identifiers.org/clinvar/128775 ^@ NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) http://identifiers.org/clinvar/128776 ^@ NM_001042432.1(CLN3):c.1211A>G (p.His404Arg) http://identifiers.org/clinvar/128777 ^@ NM_001042432.1(CLN3):c.313A>G (p.Ile105Val) http://identifiers.org/clinvar/128778 ^@ NM_006493.2(CLN5):c.1103A>G (p.Lys368Arg) http://identifiers.org/clinvar/128779 ^@ NM_006493.2(CLN5):c.1188T>C (p.Pro396=) http://identifiers.org/clinvar/128780 ^@ NM_006493.2(CLN5):c.1192C>T (p.Pro398Ser) http://identifiers.org/clinvar/128781 ^@ NM_006493.2(CLN5):c.320+8C>T http://identifiers.org/clinvar/128782 ^@ NM_006493.2(CLN5):c.4C>T (p.Arg2Cys) http://identifiers.org/clinvar/128783 ^@ NM_006493.2(CLN5):c.528T>G (p.Thr176=) http://identifiers.org/clinvar/128784 ^@ NM_006493.2(CLN5):c.672delG (p.Trp224Terfs) http://identifiers.org/clinvar/128785 ^@ NM_017882.2(CLN6):c.298-6C>T http://identifiers.org/clinvar/128786 ^@ NM_017882.2(CLN6):c.486+8C>T http://identifiers.org/clinvar/128787 ^@ NM_017882.2(CLN6):c.601A>G (p.Lys201Glu) http://identifiers.org/clinvar/128788 ^@ NM_018941.3(CLN8):c.274C>T (p.His92Tyr) http://identifiers.org/clinvar/128789 ^@ NM_018941.3(CLN8):c.562C>T (p.Leu188=) http://identifiers.org/clinvar/128790 ^@ NM_001843.3(CNTN1):c.1014T>C (p.Asn338=) http://identifiers.org/clinvar/128791 ^@ NM_001843.3(CNTN1):c.1416C>T (p.Asn472=) http://identifiers.org/clinvar/128792 ^@ NM_001843.3(CNTN1):c.1893T>C (p.His631=) http://identifiers.org/clinvar/128793 ^@ NM_001843.3(CNTN1):c.1956A>G (p.Ala652=) http://identifiers.org/clinvar/128794 ^@ NM_001843.3(CNTN1):c.2324G>A (p.Ser775Asn) http://identifiers.org/clinvar/128795 ^@ NM_001843.3(CNTN1):c.2493T>C (p.His831=) http://identifiers.org/clinvar/128796 ^@ NM_001843.3(CNTN1):c.2670A>T (p.Gly890=) http://identifiers.org/clinvar/128797 ^@ NM_001843.3(CNTN1):c.401-9C>T http://identifiers.org/clinvar/128798 ^@ NM_014141.5(CNTNAP2):c.1247C>T (p.Ala416Val) http://identifiers.org/clinvar/128799 ^@ NM_014141.5(CNTNAP2):c.1119G>A (p.Thr373=) http://identifiers.org/clinvar/128800 ^@ NM_014141.5(CNTNAP2):c.1308C>T (p.Asn436=) http://identifiers.org/clinvar/128801 ^@ NM_014141.5(CNTNAP2):c.1846C>T (p.Pro616Ser) http://identifiers.org/clinvar/128802 ^@ NM_014141.5(CNTNAP2):c.1854C>T (p.Gly618=) http://identifiers.org/clinvar/128803 ^@ NM_014141.5(CNTNAP2):c.318C>T (p.Ser106=) http://identifiers.org/clinvar/128804 ^@ NM_014141.5(CNTNAP2):c.3193C>A (p.Leu1065Ile) http://identifiers.org/clinvar/128805 ^@ NM_014141.5(CNTNAP2):c.3522A>T (p.Gly1174=) http://identifiers.org/clinvar/128806 ^@ NM_014141.5(CNTNAP2):c.3791T>C (p.Ile1264Thr) http://identifiers.org/clinvar/128807 ^@ NM_014141.5(CNTNAP2):c.3797-6C>T http://identifiers.org/clinvar/128808 ^@ NM_014141.5(CNTNAP2):c.485T>G (p.Val162Gly) http://identifiers.org/clinvar/128809 ^@ NM_014141.5(CNTNAP2):c.939+8T>A http://identifiers.org/clinvar/128810 ^@ NM_015386.2(COG4):c.2142G>A (p.Ser714=) http://identifiers.org/clinvar/128812 ^@ NM_001848.2(COL6A1):c.3054C>T (p.His1018=) http://identifiers.org/clinvar/128813 ^@ NM_001848.2(COL6A1):c.349G>A (p.Val117Met) http://identifiers.org/clinvar/128814 ^@ NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) http://identifiers.org/clinvar/128815 ^@ NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) http://identifiers.org/clinvar/128816 ^@ NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) http://identifiers.org/clinvar/128817 ^@ NM_004369.3(COL6A3):c.3680-5C>T http://identifiers.org/clinvar/128818 ^@ NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) http://identifiers.org/clinvar/128819 ^@ NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) http://identifiers.org/clinvar/128820 ^@ NM_004369.3(COL6A3):c.6105G>A (p.Lys2035=) http://identifiers.org/clinvar/128821 ^@ NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) http://identifiers.org/clinvar/128822 ^@ NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) http://identifiers.org/clinvar/128823 ^@ NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) http://identifiers.org/clinvar/128825 ^@ NM_005677.3(COLQ):c.1248C>T (p.Asp416=) http://identifiers.org/clinvar/128826 ^@ NM_005677.3(COLQ):c.366+7A>G http://identifiers.org/clinvar/128827 ^@ NM_005677.3(COLQ):c.934A>G (p.Ser312Gly) http://identifiers.org/clinvar/128828 ^@ NM_015697.7(COQ2):c.196G>T (p.Val66Leu) http://identifiers.org/clinvar/128829 ^@ NM_015697.7(COQ2):c.894T>C (p.Asp298=) http://identifiers.org/clinvar/128830 ^@ NM_015697.7(COQ2):c.990C>T (p.Ser330=) http://identifiers.org/clinvar/128832 ^@ NM_016035.4(COQ4):c.318G>A (p.Ser106=) http://identifiers.org/clinvar/128833 ^@ NM_182476.2(COQ6):c.1016A>T (p.Asp339Val) http://identifiers.org/clinvar/128834 ^@ NM_182476.2(COQ6):c.1216G>A (p.Val406Met) http://identifiers.org/clinvar/128835 ^@ NM_182476.2(COQ6):c.570T>C (p.His190=) http://identifiers.org/clinvar/128836 ^@ NM_004376.6(COX15):c.1120T>C (p.Phe374Leu) http://identifiers.org/clinvar/128837 ^@ NM_000096.3(CP):c.1099C>T (p.Arg367Cys) http://identifiers.org/clinvar/128838 ^@ NM_000096.3(CP):c.1950A>C (p.Gly650=) http://identifiers.org/clinvar/128839 ^@ NM_000096.3(CP):c.2378G>A (p.Arg793His) http://identifiers.org/clinvar/128840 ^@ NM_000096.3(CP):c.2793A>G (p.Leu931=) http://identifiers.org/clinvar/128841 ^@ NM_000096.3(CP):c.2991T>C (p.His997=) http://identifiers.org/clinvar/128842 ^@ NM_000096.3(CP):c.3182-4A>G http://identifiers.org/clinvar/128843 ^@ NM_000096.3(CP):c.322C>T (p.His108Tyr) http://identifiers.org/clinvar/128844 ^@ NM_000096.3(CP):c.656T>A (p.Val219Glu) http://identifiers.org/clinvar/128845 ^@ NM_020361.4(CPA6):c.133T>C (p.Phe45Leu) http://identifiers.org/clinvar/128846 ^@ NM_020361.4(CPA6):c.518C>G (p.Ser173Cys) http://identifiers.org/clinvar/128847 ^@ NM_020361.4(CPA6):c.746A>G (p.Asn249Ser) http://identifiers.org/clinvar/128848 ^@ NM_020361.4(CPA6):c.928C>T (p.Leu310Phe) http://identifiers.org/clinvar/128849 ^@ NM_001875.4(CPS1):c.1030A>G (p.Thr344Ala) http://identifiers.org/clinvar/128850 ^@ NM_001875.4(CPS1):c.1032C>T (p.Thr344=) http://identifiers.org/clinvar/128851 ^@ NM_001875.4(CPS1):c.2679C>G (p.Gly893=) http://identifiers.org/clinvar/128852 ^@ NM_001875.4(CPS1):c.4217C>A (p.Thr1406Asn) http://identifiers.org/clinvar/128853 ^@ NM_001875.4(CPS1):c.937A>G (p.Met313Val) http://identifiers.org/clinvar/128854 ^@ NM_016302.3(CRBN):c.175-5T>A http://identifiers.org/clinvar/128855 ^@ NM_016302.3(CRBN):c.175-9T>C http://identifiers.org/clinvar/128856 ^@ NM_016302.3(CRBN):c.219C>T (p.His73=) http://identifiers.org/clinvar/128857 ^@ NM_016302.3(CRBN):c.735T>C (p.Tyr245=) http://identifiers.org/clinvar/128858 ^@ NM_000100.3(CSTB):c.15G>T (p.Ala5=) http://identifiers.org/clinvar/128859 ^@ NM_025099.5(CTC1):c.1383G>A (p.Gln461=) http://identifiers.org/clinvar/128860 ^@ NM_025099.5(CTC1):c.2458A>G (p.Ile820Val) http://identifiers.org/clinvar/128861 ^@ NM_025099.5(CTC1):c.3013A>G (p.Ile1005Val) http://identifiers.org/clinvar/128862 ^@ NM_025099.5(CTC1):c.990C>T (p.Asp330=) http://identifiers.org/clinvar/128863 ^@ NM_006565.3(CTCF):c.1164C>T (p.Ser388=) http://identifiers.org/clinvar/128864 ^@ NM_006565.3(CTCF):c.1768G>C (p.Glu590Gln) http://identifiers.org/clinvar/128865 ^@ NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) http://identifiers.org/clinvar/128866 ^@ NM_001904.3(CTNNB1):c.14-4A>G http://identifiers.org/clinvar/128867 ^@ NM_001904.3(CTNNB1):c.1516C>T (p.Leu506=) http://identifiers.org/clinvar/128868 ^@ NM_001904.3(CTNNB1):c.1785C>T (p.Thr595=) http://identifiers.org/clinvar/128869 ^@ NM_001904.3(CTNNB1):c.2340C>T (p.Asp780=) http://identifiers.org/clinvar/128870 ^@ NM_001909.4(CTSD):c.1072-7G>A http://identifiers.org/clinvar/128871 ^@ NM_001909.4(CTSD):c.1137C>T (p.Ser379=) http://identifiers.org/clinvar/128872 ^@ NM_001909.4(CTSD):c.1215C>A (p.Gly405=) http://identifiers.org/clinvar/128873 ^@ NM_001909.4(CTSD):c.173C>T (p.Ala58Val) http://identifiers.org/clinvar/128874 ^@ NM_001909.4(CTSD):c.189C>T (p.Thr63=) http://identifiers.org/clinvar/128875 ^@ NM_001909.4(CTSD):c.231C>T (p.Ala77=) http://identifiers.org/clinvar/128876 ^@ NM_001909.4(CTSD):c.465T>C (p.Thr155=) http://identifiers.org/clinvar/128877 ^@ NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) http://identifiers.org/clinvar/128879 ^@ NM_018294.5(CWF19L1):c.479G>A (p.Cys160Tyr) http://identifiers.org/clinvar/128880 ^@ NM_018294.5(CWF19L1):c.720G>A (p.Ala240=) http://identifiers.org/clinvar/128881 ^@ NM_018294.5(CWF19L1):c.776C>T (p.Pro259Leu) http://identifiers.org/clinvar/128882 ^@ NM_018294.5(CWF19L1):c.964+1G>A http://identifiers.org/clinvar/128883 ^@ NM_000784.3(CYP27A1):c.203T>G (p.Phe68Cys) http://identifiers.org/clinvar/128884 ^@ NM_004393.5(DAG1):c.259A>G (p.Ile87Val) http://identifiers.org/clinvar/128885 ^@ NM_001918.3(DBT):c.1150G= (p.Gly384=) http://identifiers.org/clinvar/128886 ^@ NM_025000.3(DCAF17):c.1183-6T>C http://identifiers.org/clinvar/128887 ^@ NM_025000.3(DCAF17):c.1267-7C>T http://identifiers.org/clinvar/128888 ^@ NM_025000.3(DCAF17):c.1320T>C (p.Ala440=) http://identifiers.org/clinvar/128889 ^@ NM_025000.3(DCAF17):c.150C>T (p.Val50=) http://identifiers.org/clinvar/128890 ^@ NM_025000.3(DCAF17):c.555T>A (p.His185Gln) http://identifiers.org/clinvar/128891 ^@ NM_025000.3(DCAF17):c.939G>A (p.Gln313=) http://identifiers.org/clinvar/128892 ^@ NM_025000.3(DCAF17):c.999A>G (p.Gln333=) http://identifiers.org/clinvar/128893 ^@ NM_015214.2(DDHD2):c.557C>T (p.Thr186Met) http://identifiers.org/clinvar/128894 ^@ NM_001361.4(DHODH):c.1022C>T (p.Ala341Val) http://identifiers.org/clinvar/128895 ^@ NM_001361.4(DHODH):c.19A>C (p.Lys7Gln) http://identifiers.org/clinvar/128896 ^@ NM_001363.4(DKC1):c.1461C>T (p.Ala487=) http://identifiers.org/clinvar/128897 ^@ NM_001931.4(DLAT):c.128C>T (p.Ala43Val) http://identifiers.org/clinvar/128898 ^@ NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn) http://identifiers.org/clinvar/128899 ^@ NM_001931.4(DLAT):c.953T>C (p.Val318Ala) http://identifiers.org/clinvar/128900 ^@ NM_004409.4(DMPK):c.456G>A (p.Val152=) http://identifiers.org/clinvar/128901 ^@ NM_004409.4(DMPK):c.504G>A (p.Pro168=) http://identifiers.org/clinvar/128902 ^@ NM_004409.4(DMPK):c.581+6T>C http://identifiers.org/clinvar/128903 ^@ NM_004409.4(DMPK):c.1267C>G (p.Leu423Val) http://identifiers.org/clinvar/128904 ^@ NM_173660.4(DOK7):c.1113A>C (p.Ser371=) http://identifiers.org/clinvar/128905 ^@ NM_173660.4(DOK7):c.1134G>A (p.Ala378=) http://identifiers.org/clinvar/128906 ^@ NM_173660.4(DOK7):c.1143C>T (p.Pro381=) http://identifiers.org/clinvar/128907 ^@ NM_173660.4(DOK7):c.1185C>T (p.Tyr395=) http://identifiers.org/clinvar/128908 ^@ NM_173660.4(DOK7):c.1243C>T (p.Pro415Ser) http://identifiers.org/clinvar/128909 ^@ NM_173660.4(DOK7):c.1317C>T (p.Ser439=) http://identifiers.org/clinvar/128910 ^@ NM_173660.4(DOK7):c.1351C>T (p.Arg451Trp) http://identifiers.org/clinvar/128911 ^@ NM_173660.4(DOK7):c.1382G>A (p.Gly461Asp) http://identifiers.org/clinvar/128912 ^@ NM_173660.4(DOK7):c.332-4G>A http://identifiers.org/clinvar/128913 ^@ NM_173660.4(DOK7):c.589G>A (p.Asp197Asn) http://identifiers.org/clinvar/128914 ^@ NM_173660.4(DOK7):c.753G>A (p.Ala251=) http://identifiers.org/clinvar/128915 ^@ NM_173660.4(DOK7):c.782G>A (p.Arg261His) http://identifiers.org/clinvar/128916 ^@ NM_173660.4(DOK7):c.887A>G (p.Gln296Arg) http://identifiers.org/clinvar/128917 ^@ NM_173660.4(DOK7):c.967C>T (p.Arg323Cys) http://identifiers.org/clinvar/128918 ^@ NM_003863.3(DPM2):c.177C>T (p.Leu59=) http://identifiers.org/clinvar/128919 ^@ NM_003863.3(DPM2):c.183G>A (p.Leu61=) http://identifiers.org/clinvar/128920 ^@ NM_003863.3(DPM2):c.213T>C (p.Tyr71=) http://identifiers.org/clinvar/128921 ^@ NM_003863.3(DPM2):c.227C>G (p.Thr76Ser) http://identifiers.org/clinvar/128922 ^@ NM_001376.4(DYNC1H1):c.10656C>T (p.Tyr3552=) http://identifiers.org/clinvar/128923 ^@ NM_001376.4(DYNC1H1):c.12102+6G>A http://identifiers.org/clinvar/128924 ^@ NM_001376.4(DYNC1H1):c.2511A>G (p.Ala837=) http://identifiers.org/clinvar/128925 ^@ NM_001376.4(DYNC1H1):c.7224C>T (p.Ala2408=) http://identifiers.org/clinvar/128926 ^@ NM_001376.4(DYNC1H1):c.9069A>G (p.Gly3023=) http://identifiers.org/clinvar/128927 ^@ NM_001376.4(DYNC1H1):c.10950C>T (p.Asn3650=) http://identifiers.org/clinvar/128928 ^@ NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) http://identifiers.org/clinvar/128929 ^@ NM_001376.4(DYNC1H1):c.13080T>C (p.Thr4360=) http://identifiers.org/clinvar/128930 ^@ NM_001376.4(DYNC1H1):c.13181C>T (p.Thr4394Met) http://identifiers.org/clinvar/128931 ^@ NM_001376.4(DYNC1H1):c.13372+4C>T http://identifiers.org/clinvar/128932 ^@ NM_001376.4(DYNC1H1):c.13372+9G>A http://identifiers.org/clinvar/128933 ^@ NM_001376.4(DYNC1H1):c.2625G>A (p.Ser875=) http://identifiers.org/clinvar/128934 ^@ NM_001376.4(DYNC1H1):c.3419C>T (p.Thr1140Met) http://identifiers.org/clinvar/128935 ^@ NM_001376.4(DYNC1H1):c.3600A>G (p.Gln1200=) http://identifiers.org/clinvar/128936 ^@ NM_001376.4(DYNC1H1):c.3909G>A (p.Ala1303=) http://identifiers.org/clinvar/128937 ^@ NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) http://identifiers.org/clinvar/128938 ^@ NM_001376.4(DYNC1H1):c.46T>C (p.Leu16=) http://identifiers.org/clinvar/128939 ^@ NM_001376.4(DYNC1H1):c.624G>A (p.Pro208=) http://identifiers.org/clinvar/128940 ^@ NM_001376.4(DYNC1H1):c.7137G>A (p.Leu2379=) http://identifiers.org/clinvar/128941 ^@ NM_001376.4(DYNC1H1):c.7449C>T (p.Ile2483=) http://identifiers.org/clinvar/128942 ^@ NM_001376.4(DYNC1H1):c.7524A>G (p.Leu2508=) http://identifiers.org/clinvar/128943 ^@ NM_001376.4(DYNC1H1):c.7632A>G (p.Glu2544=) http://identifiers.org/clinvar/128944 ^@ NM_001376.4(DYNC1H1):c.8928A>G (p.Leu2976=) http://identifiers.org/clinvar/128945 ^@ NM_003494.3(DYSF):c.1284+6G>C http://identifiers.org/clinvar/128946 ^@ NM_003494.3(DYSF):c.1422C>T (p.Ile474=) http://identifiers.org/clinvar/128947 ^@ NM_003494.3(DYSF):c.3287G>A (p.Arg1096His) http://identifiers.org/clinvar/128948 ^@ NM_003494.3(DYSF):c.4323G>A (p.Gln1441=) http://identifiers.org/clinvar/128949 ^@ NM_003494.3(DYSF):c.4376A>G (p.Asp1459Gly) http://identifiers.org/clinvar/128950 ^@ NM_004826.3(ECEL1):c.1267G>C (p.Glu423Gln) http://identifiers.org/clinvar/128951 ^@ NM_004826.3(ECEL1):c.1797-10G>A http://identifiers.org/clinvar/128952 ^@ NM_004826.3(ECEL1):c.1858G>A (p.Asp620Asn) http://identifiers.org/clinvar/128953 ^@ NM_004826.3(ECEL1):c.1995C>T (p.Asn665=) http://identifiers.org/clinvar/128954 ^@ NM_004826.3(ECEL1):c.426C>A (p.Asp142Glu) http://identifiers.org/clinvar/128955 ^@ NM_004826.3(ECEL1):c.51C>A (p.Val17=) http://identifiers.org/clinvar/128956 ^@ NM_004826.3(ECEL1):c.967-7C>G http://identifiers.org/clinvar/128957 ^@ NM_004826.3(ECEL1):c.982C>T (p.His328Tyr) http://identifiers.org/clinvar/128958 ^@ NM_001961.3(EEF2):c.1632T>C (p.His544=) http://identifiers.org/clinvar/128959 ^@ NM_001961.3(EEF2):c.2190T>C (p.Tyr730=) http://identifiers.org/clinvar/128960 ^@ NM_018100.3(EFHC1):c.1155C>T (p.Asn385=) http://identifiers.org/clinvar/128961 ^@ NM_018100.3(EFHC1):c.1224C>T (p.Asp408=) http://identifiers.org/clinvar/128962 ^@ NM_018100.3(EFHC1):c.1343T>C (p.Met448Thr) http://identifiers.org/clinvar/128963 ^@ NM_018100.3(EFHC1):c.1385T>C (p.Ile462Thr) http://identifiers.org/clinvar/128964 ^@ NM_018100.3(EFHC1):c.1812A>C (p.Glu604Asp) http://identifiers.org/clinvar/128965 ^@ NM_018100.3(EFHC1):c.1852-6C>G http://identifiers.org/clinvar/128966 ^@ NM_018100.3(EFHC1):c.1855A>C (p.Ile619Leu) http://identifiers.org/clinvar/128967 ^@ NM_018100.3(EFHC1):c.25T>C (p.Leu9=) http://identifiers.org/clinvar/128968 ^@ NM_018100.3(EFHC1):c.475C>T (p.Arg159Trp) http://identifiers.org/clinvar/128969 ^@ NM_018100.3(EFHC1):c.573+10A>G http://identifiers.org/clinvar/128970 ^@ NM_018100.3(EFHC1):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/128971 ^@ NM_018100.3(EFHC1):c.90G>A (p.Thr30=) http://identifiers.org/clinvar/128972 ^@ NM_004247.3(EFTUD2):c.426+8G>A http://identifiers.org/clinvar/128973 ^@ NM_004247.3(EFTUD2):c.762T>C (p.Thr254=) http://identifiers.org/clinvar/128974 ^@ NM_004247.3(EFTUD2):c.994+6C>T http://identifiers.org/clinvar/128975 ^@ NM_024757.4(EHMT1):c.1162G>A (p.Ala388Thr) http://identifiers.org/clinvar/128976 ^@ NM_024757.4(EHMT1):c.148G>A (p.Ala50Thr) http://identifiers.org/clinvar/128977 ^@ NM_024757.4(EHMT1):c.1865A>G (p.Asn622Ser) http://identifiers.org/clinvar/128978 ^@ NM_024757.4(EHMT1):c.2426C>T (p.Pro809Leu) http://identifiers.org/clinvar/128979 ^@ NM_024757.4(EHMT1):c.3087G>A (p.Val1029=) http://identifiers.org/clinvar/128980 ^@ NM_024757.4(EHMT1):c.309G>A (p.Ala103=) http://identifiers.org/clinvar/128981 ^@ NM_024757.4(EHMT1):c.316C>G (p.Gln106Glu) http://identifiers.org/clinvar/128982 ^@ NM_024757.4(EHMT1):c.526C>T (p.Pro176Ser) http://identifiers.org/clinvar/128983 ^@ NM_004836.6(EIF2AK3):c.1756A>T (p.Ile586Leu) http://identifiers.org/clinvar/128984 ^@ NM_004836.6(EIF2AK3):c.1763+6A>T http://identifiers.org/clinvar/128985 ^@ NM_004836.6(EIF2AK3):c.1791A>G (p.Gln597=) http://identifiers.org/clinvar/128986 ^@ NM_004836.6(EIF2AK3):c.2110G>T (p.Ala704Ser) http://identifiers.org/clinvar/128987 ^@ NM_004836.6(EIF2AK3):c.407C>G (p.Ser136Cys) http://identifiers.org/clinvar/128988 ^@ NM_004836.6(EIF2AK3):c.497A>G (p.Gln166Arg) http://identifiers.org/clinvar/128989 ^@ NM_015636.3(EIF2B4):c.726G>A (p.Pro242=) http://identifiers.org/clinvar/128990 ^@ NM_015636.3(EIF2B4):c.913C>G (p.Arg305Gly) http://identifiers.org/clinvar/128992 ^@ NM_001415.3(EIF2S3):c.1266C>T (p.Ala422=) http://identifiers.org/clinvar/128993 ^@ NM_001415.3(EIF2S3):c.374A>G (p.Lys125Arg) http://identifiers.org/clinvar/128994 ^@ NM_001415.3(EIF2S3):c.99C>T (p.His33=) http://identifiers.org/clinvar/128995 ^@ NM_012156.2(EPB41L1):c.1197C>T (p.Thr399=) http://identifiers.org/clinvar/128996 ^@ NM_012156.2(EPB41L1):c.1338T>C (p.His446=) http://identifiers.org/clinvar/128997 ^@ NM_012156.2(EPB41L1):c.1640C>G (p.Pro547Arg) http://identifiers.org/clinvar/128998 ^@ NM_012156.2(EPB41L1):c.1869G>A (p.Thr623=) http://identifiers.org/clinvar/128999 ^@ NM_012156.2(EPB41L1):c.2060C>T (p.Pro687Leu) http://identifiers.org/clinvar/129000 ^@ NM_012156.2(EPB41L1):c.319T>G (p.Ser107Ala) http://identifiers.org/clinvar/129001 ^@ NM_012156.2(EPB41L1):c.555A>G (p.Glu185=) http://identifiers.org/clinvar/129002 ^@ NM_012156.2(EPB41L1):c.873+7C>G http://identifiers.org/clinvar/129003 ^@ NM_005670.3(EPM2A):c.163C>A (p.Gln55Lys) http://identifiers.org/clinvar/129004 ^@ NM_005670.3(EPM2A):c.393G>A (p.Glu131=) http://identifiers.org/clinvar/129005 ^@ NM_005670.3(EPM2A):c.402G>A (p.Gly134=) http://identifiers.org/clinvar/129006 ^@ NM_005670.3(EPM2A):c.719-4G>A http://identifiers.org/clinvar/129007 ^@ NM_005236.2(ERCC4):c.2505T>C (p.Ser835=) http://identifiers.org/clinvar/129008 ^@ NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) http://identifiers.org/clinvar/129009 ^@ NM_000123.3(ERCC5):c.138T>C (p.His46=) http://identifiers.org/clinvar/129010 ^@ NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) http://identifiers.org/clinvar/129011 ^@ NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) http://identifiers.org/clinvar/129012 ^@ NM_000123.3(ERCC5):c.760A>G (p.Met254Val) http://identifiers.org/clinvar/129013 ^@ NM_000124.3(ERCC6):c.1196G>A (p.Gly399Asp) http://identifiers.org/clinvar/129014 ^@ NM_000124.3(ERCC6):c.135C>G (p.Leu45=) http://identifiers.org/clinvar/129015 ^@ NM_000124.3(ERCC6):c.2751C>T (p.Gly917=) http://identifiers.org/clinvar/129016 ^@ NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) http://identifiers.org/clinvar/129017 ^@ NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) http://identifiers.org/clinvar/129018 ^@ NM_000124.3(ERCC6):c.3689G>C (p.Arg1230Pro) http://identifiers.org/clinvar/129019 ^@ NM_000124.3(ERCC6):c.411G>A (p.Leu137=) http://identifiers.org/clinvar/129020 ^@ NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) http://identifiers.org/clinvar/129021 ^@ NM_007175.6(ERLIN2):c.318C>T (p.Asn106=) http://identifiers.org/clinvar/129022 ^@ NM_007175.6(ERLIN2):c.696G>A (p.Lys232=) http://identifiers.org/clinvar/129023 ^@ NM_016042.3(EXOSC3):c.112delG (p.Glu38Asnfs) http://identifiers.org/clinvar/129024 ^@ NM_016042.3(EXOSC3):c.238G>T (p.Val80Phe) http://identifiers.org/clinvar/129025 ^@ NM_016042.3(EXOSC3):c.498G>A (p.Gln166=) http://identifiers.org/clinvar/129026 ^@ NM_016042.3(EXOSC3):c.673T>C (p.Tyr225His) http://identifiers.org/clinvar/129027 ^@ NM_024306.4(FA2H):c.1039+8T>C http://identifiers.org/clinvar/129028 ^@ NM_024306.4(FA2H):c.229C>T (p.Leu77=) http://identifiers.org/clinvar/129029 ^@ NM_024306.4(FA2H):c.289C>G (p.Pro97Ala) http://identifiers.org/clinvar/129030 ^@ NM_024306.4(FA2H):c.847G>A (p.Val283Ile) http://identifiers.org/clinvar/129031 ^@ NM_024306.4(FA2H):c.879C>T (p.Pro293=) http://identifiers.org/clinvar/129032 ^@ NM_024306.4(FA2H):c.888A>G (p.Val296=) http://identifiers.org/clinvar/129033 ^@ NM_024306.4(FA2H):c.933T>C (p.Tyr311=) http://identifiers.org/clinvar/129034 ^@ NM_001999.3(FBN2):c.111G>A (p.Pro37=) http://identifiers.org/clinvar/129035 ^@ NM_001999.3(FBN2):c.1466-5C>T http://identifiers.org/clinvar/129036 ^@ NM_001999.3(FBN2):c.183C>G (p.Pro61=) http://identifiers.org/clinvar/129037 ^@ NM_001999.3(FBN2):c.2161G>A (p.Gly721Ser) http://identifiers.org/clinvar/129038 ^@ NM_001999.3(FBN2):c.2778C>T (p.Ala926=) http://identifiers.org/clinvar/129039 ^@ NM_001999.3(FBN2):c.2893G>A (p.Val965Ile) http://identifiers.org/clinvar/129040 ^@ NM_001999.3(FBN2):c.3015G>A (p.Leu1005=) http://identifiers.org/clinvar/129041 ^@ NM_001999.3(FBN2):c.4098A>C (p.Thr1366=) http://identifiers.org/clinvar/129042 ^@ NM_001999.3(FBN2):c.4206C>T (p.Asn1402=) http://identifiers.org/clinvar/129043 ^@ NM_001999.3(FBN2):c.5675-9C>T http://identifiers.org/clinvar/129044 ^@ NM_001999.3(FBN2):c.5823T>C (p.His1941=) http://identifiers.org/clinvar/129045 ^@ NM_001999.3(FBN2):c.629-9A>G http://identifiers.org/clinvar/129046 ^@ NM_001999.3(FBN2):c.6931A>G (p.Met2311Val) http://identifiers.org/clinvar/129047 ^@ NM_001999.3(FBN2):c.6948C>A (p.Ile2316=) http://identifiers.org/clinvar/129048 ^@ NM_001999.3(FBN2):c.7013-5T>C http://identifiers.org/clinvar/129049 ^@ NM_001999.3(FBN2):c.7200T>C (p.Ser2400=) http://identifiers.org/clinvar/129050 ^@ NM_001999.3(FBN2):c.7296G>T (p.Gln2432His) http://identifiers.org/clinvar/129051 ^@ NM_001999.3(FBN2):c.7739C>T (p.Ser2580Leu) http://identifiers.org/clinvar/129052 ^@ NM_001999.3(FBN2):c.8154C>T (p.Leu2718=) http://identifiers.org/clinvar/129053 ^@ NM_001999.3(FBN2):c.8274C>T (p.Ser2758=) http://identifiers.org/clinvar/129054 ^@ NM_001999.3(FBN2):c.8347G>C (p.Glu2783Gln) http://identifiers.org/clinvar/129055 ^@ NM_024301.4(FKRP):c.1027G>C (p.Glu343Gln) http://identifiers.org/clinvar/129056 ^@ NM_024301.4(FKRP):c.192C>T (p.Pro64=) http://identifiers.org/clinvar/129057 ^@ NM_024301.4(FKRP):c.427C>A (p.Arg143Ser) http://identifiers.org/clinvar/129058 ^@ NM_024301.4(FKRP):c.822C>G (p.Ile274Met) http://identifiers.org/clinvar/129059 ^@ NM_001456.3(FLNA):c.1239G>A (p.Thr413=) http://identifiers.org/clinvar/129060 ^@ NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) http://identifiers.org/clinvar/129061 ^@ NM_001456.3(FLNA):c.2023-8C>T http://identifiers.org/clinvar/129062 ^@ NM_001456.3(FLNA):c.3045G>A (p.Ala1015=) http://identifiers.org/clinvar/129063 ^@ NM_001456.3(FLNA):c.5565C>T (p.Val1855=) http://identifiers.org/clinvar/129064 ^@ NM_001456.3(FLNA):c.5849T>G (p.Met1950Arg) http://identifiers.org/clinvar/129065 ^@ NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) http://identifiers.org/clinvar/129066 ^@ NM_001456.3(FLNA):c.1691+7C>A http://identifiers.org/clinvar/129067 ^@ NM_001456.3(FLNA):c.1968C>T (p.Leu656=) http://identifiers.org/clinvar/129068 ^@ NM_001456.3(FLNA):c.2178C>T (p.Asn726=) http://identifiers.org/clinvar/129069 ^@ NM_001456.3(FLNA):c.2433C>T (p.Ala811=) http://identifiers.org/clinvar/129070 ^@ NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) http://identifiers.org/clinvar/129071 ^@ NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) http://identifiers.org/clinvar/129072 ^@ NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) http://identifiers.org/clinvar/129073 ^@ NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) http://identifiers.org/clinvar/129074 ^@ NM_001456.3(FLNA):c.4598+8G>C http://identifiers.org/clinvar/129075 ^@ NM_001456.3(FLNA):c.5790C>T (p.Tyr1930=) http://identifiers.org/clinvar/129076 ^@ NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) http://identifiers.org/clinvar/129077 ^@ NM_001456.3(FLNA):c.7410G>A (p.Glu2470=) http://identifiers.org/clinvar/129078 ^@ NM_001458.4(FLNC):c.1032C>T (p.Val344=) http://identifiers.org/clinvar/129079 ^@ NM_001458.4(FLNC):c.1374C>T (p.Pro458=) http://identifiers.org/clinvar/129080 ^@ NM_001458.4(FLNC):c.1458C>A (p.Pro486=) http://identifiers.org/clinvar/129081 ^@ NM_001458.4(FLNC):c.147C>T (p.His49=) http://identifiers.org/clinvar/129082 ^@ NM_001458.4(FLNC):c.1614C>T (p.Tyr538=) http://identifiers.org/clinvar/129083 ^@ NM_001458.4(FLNC):c.2501C>T (p.Thr834Met) http://identifiers.org/clinvar/129084 ^@ NM_001458.4(FLNC):c.3297A>G (p.Val1099=) http://identifiers.org/clinvar/129085 ^@ NM_001458.4(FLNC):c.3624G>A (p.Ala1208=) http://identifiers.org/clinvar/129086 ^@ NM_001458.4(FLNC):c.3757G>A (p.Val1253Ile) http://identifiers.org/clinvar/129087 ^@ NM_001458.4(FLNC):c.3838C>T (p.Leu1280=) http://identifiers.org/clinvar/129088 ^@ NM_001458.4(FLNC):c.3973C>T (p.Leu1325=) http://identifiers.org/clinvar/129089 ^@ NM_001458.4(FLNC):c.4056C>T (p.Arg1352=) http://identifiers.org/clinvar/129090 ^@ NM_001458.4(FLNC):c.4431G>A (p.Leu1477=) http://identifiers.org/clinvar/129091 ^@ NM_001458.4(FLNC):c.4700G>A (p.Arg1567Gln) http://identifiers.org/clinvar/129092 ^@ NM_001458.4(FLNC):c.5377G>A (p.Val1793Met) http://identifiers.org/clinvar/129093 ^@ NM_001458.4(FLNC):c.5592C>T (p.Ala1864=) http://identifiers.org/clinvar/129094 ^@ NM_001458.4(FLNC):c.5763T>C (p.Thr1921=) http://identifiers.org/clinvar/129095 ^@ NM_001458.4(FLNC):c.6771A>G (p.Pro2257=) http://identifiers.org/clinvar/129096 ^@ NM_001458.4(FLNC):c.720T>C (p.Ile240=) http://identifiers.org/clinvar/129097 ^@ NM_001458.4(FLNC):c.7221C>T (p.Asp2407=) http://identifiers.org/clinvar/129098 ^@ NM_001458.4(FLNC):c.7780+10A>G http://identifiers.org/clinvar/129099 ^@ NM_001458.4(FLNC):c.795T>C (p.Gly265=) http://identifiers.org/clinvar/129100 ^@ NM_001458.4(FLNC):c.8118C>T (p.Leu2706=) http://identifiers.org/clinvar/129101 ^@ NM_001458.4(FLNC):c.8121T>C (p.Ile2707=) http://identifiers.org/clinvar/129102 ^@ NM_014053.3(FLVCR1):c.154G>C (p.Ala52Pro) http://identifiers.org/clinvar/129103 ^@ NM_014053.3(FLVCR1):c.1631C>T (p.Thr544Met) http://identifiers.org/clinvar/129104 ^@ NM_002024.5(FMR1):c.433G>T (p.Ala145Ser) http://identifiers.org/clinvar/129105 ^@ NM_002024.5(FMR1):c.1737+8C>A http://identifiers.org/clinvar/129106 ^@ NM_002024.5(FMR1):c.1751G>A (p.Cys584Tyr) http://identifiers.org/clinvar/129107 ^@ NM_032682.5(FOXP1):c.98G>C (p.Arg33Pro) http://identifiers.org/clinvar/129108 ^@ NM_032682.5(FOXP1):c.1890-5T>C http://identifiers.org/clinvar/129109 ^@ NM_032682.5(FOXP1):c.643C>G (p.Pro215Ala) http://identifiers.org/clinvar/129110 ^@ NM_014009.3(FOXP3):c.157G>A (p.Gly53Arg) http://identifiers.org/clinvar/129111 ^@ NM_014009.3(FOXP3):c.543C>T (p.Ser181=) http://identifiers.org/clinvar/129112 ^@ NM_017547.3(FOXRED1):c.124A>C (p.Lys42Gln) http://identifiers.org/clinvar/129113 ^@ NM_014728.3(FRMPD4):c.1401C>G (p.Val467=) http://identifiers.org/clinvar/129114 ^@ NM_014728.3(FRMPD4):c.1470+9C>T http://identifiers.org/clinvar/129115 ^@ NM_014728.3(FRMPD4):c.2007T>C (p.Leu669=) http://identifiers.org/clinvar/129116 ^@ NM_014728.3(FRMPD4):c.3523G>A (p.Asp1175Asn) http://identifiers.org/clinvar/129117 ^@ NM_012280.3(FTSJ1):c.572-8C>T http://identifiers.org/clinvar/129118 ^@ NM_012280.3(FTSJ1):c.762A>G (p.Leu254=) http://identifiers.org/clinvar/129119 ^@ NM_012280.3(FTSJ1):c.495C>T (p.Leu165=) http://identifiers.org/clinvar/129120 ^@ NM_000144.4(FXN):c.54A>G (p.Pro18=) http://identifiers.org/clinvar/129121 ^@ NM_000152.4(GAA):c.447G>A (p.Thr149=) http://identifiers.org/clinvar/129122 ^@ NM_000152.4(GAA):c.858+8G>A http://identifiers.org/clinvar/129123 ^@ NM_000806.5(GABRA1):c.156T>C (p.Gly52=) http://identifiers.org/clinvar/129124 ^@ NM_000806.5(GABRA1):c.74+9A>T http://identifiers.org/clinvar/129125 ^@ NM_000806.5(GABRA1):c.96A>G (p.Gln32=) http://identifiers.org/clinvar/129126 ^@ NM_000816.3(GABRG2):c.1310G>T (p.Arg437Leu) http://identifiers.org/clinvar/129127 ^@ NM_000816.3(GABRG2):c.315C>T (p.Asn105=) http://identifiers.org/clinvar/129128 ^@ NM_000816.3(GABRG2):c.354G>A (p.Ala118=) http://identifiers.org/clinvar/129129 ^@ NM_000816.3(GABRG2):c.717A>G (p.Gln239=) http://identifiers.org/clinvar/129130 ^@ NM_000156.5(GAMT):c.571-6G>A http://identifiers.org/clinvar/129131 ^@ NM_022041.3(GAN):c.1293C>T (p.Tyr431=) http://identifiers.org/clinvar/129132 ^@ NM_005257.5(GATA6):c.968_970delACC (p.His333del) http://identifiers.org/clinvar/129133 ^@ NM_005257.5(GATA6):c.1620+7A>G http://identifiers.org/clinvar/129134 ^@ NM_005257.5(GATA6):c.43G>C (p.Gly15Arg) http://identifiers.org/clinvar/129135 ^@ NM_005257.5(GATA6):c.851C>G (p.Ala284Gly) http://identifiers.org/clinvar/129136 ^@ NM_020699.3(GATAD2B):c.676C>G (p.Pro226Ala) http://identifiers.org/clinvar/129137 ^@ NM_001482.2(GATM):c.1252T>C (p.Leu418=) http://identifiers.org/clinvar/129138 ^@ NM_001482.2(GATM):c.330A>T (p.Gln110His) http://identifiers.org/clinvar/129139 ^@ NM_020944.2(GBA2):c.33C>T (p.Thr11=) http://identifiers.org/clinvar/129140 ^@ NM_000162.3(GCK):c.1112G>T (p.Cys371Phe) http://identifiers.org/clinvar/129141 ^@ NM_000162.3(GCK):c.31G>A (p.Ala11Thr) http://identifiers.org/clinvar/129142 ^@ NM_000162.3(GCK):c.449T>A (p.Phe150Tyr) http://identifiers.org/clinvar/129143 ^@ NM_000162.3(GCK):c.523G>A (p.Gly175Arg) http://identifiers.org/clinvar/129144 ^@ NM_000162.3(GCK):c.544G>A (p.Val182Met) http://identifiers.org/clinvar/129145 ^@ NM_000162.3(GCK):c.616A>C (p.Thr206Pro) http://identifiers.org/clinvar/129146 ^@ NM_000162.3(GCK):c.706G>A (p.Glu236Lys) http://identifiers.org/clinvar/129147 ^@ NM_000162.3(GCK):c.1253+8C>T http://identifiers.org/clinvar/129148 ^@ NM_001493.2(GDI1):c.154-3C>T http://identifiers.org/clinvar/129149 ^@ NM_001493.2(GDI1):c.219T>C (p.Asn73=) http://identifiers.org/clinvar/129150 ^@ NM_001493.2(GDI1):c.324C>T (p.Ser108=) http://identifiers.org/clinvar/129151 ^@ NM_002056.3(GFPT1):c.1051+7A>G http://identifiers.org/clinvar/129152 ^@ NM_002056.3(GFPT1):c.147T>C (p.Asp49=) http://identifiers.org/clinvar/129153 ^@ NM_002056.3(GFPT1):c.675C>T (p.Leu225=) http://identifiers.org/clinvar/129154 ^@ NM_000404.3(GLB1):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/129155 ^@ NM_152629.3(GLIS3):c.2221C>T (p.Leu741Phe) http://identifiers.org/clinvar/129156 ^@ NM_152629.3(GLIS3):c.473G>C (p.Gly158Ala) http://identifiers.org/clinvar/129157 ^@ NM_152629.3(GLIS3):c.965C>T (p.Ala322Val) http://identifiers.org/clinvar/129158 ^@ NM_152629.3(GLIS3):c.1071C>A (p.Asp357Glu) http://identifiers.org/clinvar/129159 ^@ NM_152629.3(GLIS3):c.805T>C (p.Ser269Pro) http://identifiers.org/clinvar/129160 ^@ NM_152629.3(GLIS3):c.902C>A (p.Pro301Gln) http://identifiers.org/clinvar/129161 ^@ NM_005271.4(GLUD1):c.342T>C (p.His114=) http://identifiers.org/clinvar/129162 ^@ NM_005271.4(GLUD1):c.1060-10T>A http://identifiers.org/clinvar/129163 ^@ NM_005271.4(GLUD1):c.1470G>A (p.Thr490=) http://identifiers.org/clinvar/129164 ^@ NM_005271.4(GLUD1):c.942A>G (p.Leu314=) http://identifiers.org/clinvar/129165 ^@ NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) http://identifiers.org/clinvar/129166 ^@ NM_000828.4(GRIA3):c.15G>A (p.Lys5=) http://identifiers.org/clinvar/129167 ^@ NM_000828.4(GRIA3):c.1200T>C (p.Asn400=) http://identifiers.org/clinvar/129168 ^@ NM_000828.4(GRIA3):c.1501-8T>A http://identifiers.org/clinvar/129169 ^@ NM_021956.4(GRIK2):c.1095+7T>C http://identifiers.org/clinvar/129170 ^@ NM_021956.4(GRIK2):c.1281C>G (p.Ser427=) http://identifiers.org/clinvar/129171 ^@ NM_021956.4(GRIK2):c.2085+10G>A http://identifiers.org/clinvar/129172 ^@ NM_021956.4(GRIK2):c.2226C>A (p.Ile742=) http://identifiers.org/clinvar/129173 ^@ NM_021956.4(GRIK2):c.2312-8T>G http://identifiers.org/clinvar/129174 ^@ NM_021956.4(GRIK2):c.2312-9C>T http://identifiers.org/clinvar/129175 ^@ NM_021956.4(GRIK2):c.2424G>A (p.Glu808=) http://identifiers.org/clinvar/129176 ^@ NM_021956.4(GRIK2):c.2601G>A (p.Met867Ile) http://identifiers.org/clinvar/129177 ^@ NM_021956.4(GRIK2):c.939T>C (p.Asp313=) http://identifiers.org/clinvar/129178 ^@ NM_007327.3(GRIN1):c.1340C>T (p.Pro447Leu) http://identifiers.org/clinvar/129179 ^@ NM_007327.3(GRIN1):c.1467+8G>A http://identifiers.org/clinvar/129180 ^@ NM_007327.3(GRIN1):c.2241G>C (p.Val747=) http://identifiers.org/clinvar/129181 ^@ NM_007327.3(GRIN1):c.2244G>C (p.Thr748=) http://identifiers.org/clinvar/129182 ^@ NM_007327.3(GRIN1):c.789A>G (p.Pro263=) http://identifiers.org/clinvar/129183 ^@ NM_007327.3(GRIN1):c.855G>A (p.Val285=) http://identifiers.org/clinvar/129184 ^@ NM_000833.4(GRIN2A):c.1667C>T (p.Ser556Phe) http://identifiers.org/clinvar/129185 ^@ NM_000833.4(GRIN2A):c.3624G>A (p.Arg1208=) http://identifiers.org/clinvar/129186 ^@ NM_000833.4(GRIN2A):c.3702C>T (p.Phe1234=) http://identifiers.org/clinvar/129187 ^@ NM_000833.4(GRIN2A):c.3785C>T (p.Thr1262Ile) http://identifiers.org/clinvar/129188 ^@ NM_000833.4(GRIN2A):c.402C>T (p.Ile134=) http://identifiers.org/clinvar/129189 ^@ NM_000833.4(GRIN2A):c.547T>A (p.Phe183Ile) http://identifiers.org/clinvar/129190 ^@ NM_000833.4(GRIN2A):c.1275G>A (p.Leu425=) http://identifiers.org/clinvar/129191 ^@ NM_000833.4(GRIN2A):c.1329-8C>T http://identifiers.org/clinvar/129192 ^@ NM_000833.4(GRIN2A):c.2085G>C (p.Arg695=) http://identifiers.org/clinvar/129193 ^@ NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=) http://identifiers.org/clinvar/129194 ^@ NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) http://identifiers.org/clinvar/129195 ^@ NM_000833.4(GRIN2A):c.2899G>C (p.Val967Leu) http://identifiers.org/clinvar/129196 ^@ NM_000833.4(GRIN2A):c.3228C>A (p.Asn1076Lys) http://identifiers.org/clinvar/129197 ^@ NM_000833.4(GRIN2A):c.3553A>G (p.Lys1185Glu) http://identifiers.org/clinvar/129198 ^@ NM_000833.4(GRIN2A):c.3619T>C (p.Tyr1207His) http://identifiers.org/clinvar/129199 ^@ NM_000833.4(GRIN2A):c.662A>G (p.Lys221Arg) http://identifiers.org/clinvar/129200 ^@ NM_000834.3(GRIN2B):c.1665C>T (p.Ser555=) http://identifiers.org/clinvar/129201 ^@ NM_000834.3(GRIN2B):c.1806C>T (p.Ile602=) http://identifiers.org/clinvar/129202 ^@ NM_000834.3(GRIN2B):c.2514C>T (p.Cys838=) http://identifiers.org/clinvar/129203 ^@ NM_000834.3(GRIN2B):c.3498C>T (p.Ser1166=) http://identifiers.org/clinvar/129204 ^@ NM_000834.3(GRIN2B):c.3534C>T (p.His1178=) http://identifiers.org/clinvar/129205 ^@ NM_000834.3(GRIN2B):c.366C>G (p.Pro122=) http://identifiers.org/clinvar/129206 ^@ NM_000834.3(GRIN2B):c.381C>T (p.His127=) http://identifiers.org/clinvar/129207 ^@ NM_000834.3(GRIN2B):c.504C>A (p.Ile168=) http://identifiers.org/clinvar/129208 ^@ NM_000834.3(GRIN2B):c.870C>T (p.Pro290=) http://identifiers.org/clinvar/129209 ^@ NM_001278064.1(GRM1):c.2793G>A (p.Lys931=) http://identifiers.org/clinvar/129210 ^@ NM_001278064.1(GRM1):c.2977T>C (p.Ser993Pro) http://identifiers.org/clinvar/129211 ^@ NM_001278064.1(GRM1):c.3168T>G (p.Gly1056=) http://identifiers.org/clinvar/129212 ^@ NM_001278064.1(GRM1):c.3213T>G (p.Pro1071=) http://identifiers.org/clinvar/129213 ^@ NM_001278064.1(GRM1):c.3495C>A (p.Pro1165=) http://identifiers.org/clinvar/129214 ^@ NM_032806.5(POMGNT2):c.1219C>T (p.Arg407Trp) http://identifiers.org/clinvar/129215 ^@ NM_005333.4(HCCS):c.215C>T (p.Ala72Val) http://identifiers.org/clinvar/129216 ^@ NM_005333.4(HCCS):c.521+7A>G http://identifiers.org/clinvar/129217 ^@ NM_005333.4(HCCS):c.5G>A (p.Gly2Asp) http://identifiers.org/clinvar/129218 ^@ NM_005334.2(HCFC1):c.2283C>G (p.Thr761=) http://identifiers.org/clinvar/129219 ^@ NM_005334.2(HCFC1):c.2886G>A (p.Leu962=) http://identifiers.org/clinvar/129220 ^@ NM_005334.2(HCFC1):c.3290A>C (p.Asn1097Thr) http://identifiers.org/clinvar/129221 ^@ NM_005334.2(HCFC1):c.3568G>A (p.Gly1190Ser) http://identifiers.org/clinvar/129222 ^@ NM_005334.2(HCFC1):c.4542G>T (p.Leu1514=) http://identifiers.org/clinvar/129223 ^@ NM_000521.3(HEXB):c.1051T>C (p.Leu351=) http://identifiers.org/clinvar/129224 ^@ NM_000521.3(HEXB):c.214C>T (p.Leu72Phe) http://identifiers.org/clinvar/129225 ^@ NM_000410.3(HFE):c.340+4T>C http://identifiers.org/clinvar/129226 ^@ NM_000545.6(HNF1A):c.1114G>A (p.Ala372Thr) http://identifiers.org/clinvar/129227 ^@ NM_000545.6(HNF1A):c.276C>T (p.Leu92=) http://identifiers.org/clinvar/129229 ^@ NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) http://identifiers.org/clinvar/129230 ^@ NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) http://identifiers.org/clinvar/129231 ^@ NM_000545.6(HNF1A):c.1501+7G>A http://identifiers.org/clinvar/129232 ^@ NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) http://identifiers.org/clinvar/129233 ^@ NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) http://identifiers.org/clinvar/129234 ^@ NM_000545.6(HNF1A):c.51C>G (p.Leu17=) http://identifiers.org/clinvar/129235 ^@ NM_000545.6(HNF1A):c.608G>A (p.Arg203His) http://identifiers.org/clinvar/129236 ^@ NM_000545.6(HNF1A):c.864G>C (p.Gly288=) http://identifiers.org/clinvar/129237 ^@ NM_000457.4(HNF4A):c.1333C>T (p.Pro445Ser) http://identifiers.org/clinvar/129238 ^@ NM_000457.4(HNF4A):c.201C>T (p.Ala67=) http://identifiers.org/clinvar/129239 ^@ NM_000457.4(HNF4A):c.116-5C>T http://identifiers.org/clinvar/129240 ^@ NM_000457.4(HNF4A):c.416C>T (p.Thr139Ile) http://identifiers.org/clinvar/129241 ^@ NM_002156.4(HSPD1):c.273A>G (p.Lys91=) http://identifiers.org/clinvar/129242 ^@ NM_002156.4(HSPD1):c.27C>G (p.Arg9=) http://identifiers.org/clinvar/129243 ^@ NM_002156.4(HSPD1):c.69T>C (p.Thr23=) http://identifiers.org/clinvar/129244 ^@ NM_031407.6(HUWE1):c.12573C>G (p.Pro4191=) http://identifiers.org/clinvar/129245 ^@ NM_031407.6(HUWE1):c.1470A>G (p.Glu490=) http://identifiers.org/clinvar/129246 ^@ NM_031407.6(HUWE1):c.4503C>T (p.Pro1501=) http://identifiers.org/clinvar/129247 ^@ NM_031407.6(HUWE1):c.8694G>A (p.Ala2898=) http://identifiers.org/clinvar/129248 ^@ NM_031407.6(HUWE1):c.10101G>A (p.Arg3367=) http://identifiers.org/clinvar/129249 ^@ NM_031407.6(HUWE1):c.10551G>T (p.Leu3517=) http://identifiers.org/clinvar/129250 ^@ NM_031407.6(HUWE1):c.12275C>A (p.Thr4092Asn) http://identifiers.org/clinvar/129251 ^@ NM_031407.6(HUWE1):c.12903A= (p.Thr4301=) http://identifiers.org/clinvar/129252 ^@ NM_031407.6(HUWE1):c.1448A>G (p.Asn483Ser) http://identifiers.org/clinvar/129253 ^@ NM_031407.6(HUWE1):c.2109A>G (p.Ser703=) http://identifiers.org/clinvar/129254 ^@ NM_031407.6(HUWE1):c.5716+5G>A http://identifiers.org/clinvar/129255 ^@ NM_031407.6(HUWE1):c.6031-4T>A http://identifiers.org/clinvar/129256 ^@ NM_031407.6(HUWE1):c.99A>G (p.Gln33=) http://identifiers.org/clinvar/129257 ^@ NM_014714.3(IFT140):c.1192G>A (p.Val398Ile) http://identifiers.org/clinvar/129258 ^@ NM_014714.3(IFT140):c.1968T>C (p.Ser656=) http://identifiers.org/clinvar/129259 ^@ NM_014714.3(IFT140):c.2253T>C (p.Pro751=) http://identifiers.org/clinvar/129260 ^@ NM_014714.3(IFT140):c.2919C>T (p.Ala973=) http://identifiers.org/clinvar/129261 ^@ NM_014714.3(IFT140):c.3209C>T (p.Ala1070Val) http://identifiers.org/clinvar/129262 ^@ NM_014714.3(IFT140):c.836G>C (p.Arg279Pro) http://identifiers.org/clinvar/129263 ^@ NM_019892.5(INPP5E):c.572C>G (p.Pro191Arg) http://identifiers.org/clinvar/129264 ^@ NM_019892.5(INPP5E):c.1159+8C>T http://identifiers.org/clinvar/129265 ^@ NM_019892.5(INPP5E):c.1248T>C (p.Thr416=) http://identifiers.org/clinvar/129266 ^@ NM_019892.5(INPP5E):c.1284T>C (p.Gly428=) http://identifiers.org/clinvar/129267 ^@ NM_019892.5(INPP5E):c.1359C>T (p.Pro453=) http://identifiers.org/clinvar/129268 ^@ NM_019892.5(INPP5E):c.1521C>T (p.His507=) http://identifiers.org/clinvar/129269 ^@ NM_019892.5(INPP5E):c.1770C>T (p.Leu590=) http://identifiers.org/clinvar/129270 ^@ NM_019892.5(INPP5E):c.1791G>A (p.Pro597=) http://identifiers.org/clinvar/129271 ^@ NM_019892.5(INPP5E):c.1791G>C (p.Pro597=) http://identifiers.org/clinvar/129272 ^@ NM_019892.5(INPP5E):c.1794G>T (p.Gly598=) http://identifiers.org/clinvar/129273 ^@ NM_019892.5(INPP5E):c.33C>G (p.Ser11=) http://identifiers.org/clinvar/129274 ^@ NM_019892.5(INPP5E):c.531C>A (p.Ala177=) http://identifiers.org/clinvar/129275 ^@ NM_019892.5(INPP5E):c.603C>G (p.Ile201Met) http://identifiers.org/clinvar/129276 ^@ NM_019892.5(INPP5E):c.636C>A (p.Val212=) http://identifiers.org/clinvar/129277 ^@ NM_019892.5(INPP5E):c.972A>G (p.Pro324=) http://identifiers.org/clinvar/129278 ^@ NM_019892.5(INPP5E):c.981C>T (p.Ala327=) http://identifiers.org/clinvar/129279 ^@ NM_000207.2(INS):c.188-10G>A http://identifiers.org/clinvar/129280 ^@ NM_001111125.2(IQSEC2):c.1641G>A (p.Ala547=) http://identifiers.org/clinvar/129281 ^@ NM_001111125.2(IQSEC2):c.201G>C (p.Leu67=) http://identifiers.org/clinvar/129282 ^@ NM_001111125.2(IQSEC2):c.3990G>A (p.Gly1330=) http://identifiers.org/clinvar/129283 ^@ NM_001111125.2(IQSEC2):c.4314A>C (p.Pro1438=) http://identifiers.org/clinvar/129284 ^@ NM_001111125.2(IQSEC2):c.4408G>A (p.Ala1470Thr) http://identifiers.org/clinvar/129285 ^@ NM_001101426.3(ISPD):c.1220T>C (p.Leu407Ser) http://identifiers.org/clinvar/129286 ^@ NM_001101426.3(ISPD):c.32C>G (p.Pro11Arg) http://identifiers.org/clinvar/129287 ^@ NM_001101426.3(ISPD):c.407C>T (p.Ala136Val) http://identifiers.org/clinvar/129288 ^@ NM_001101426.3(ISPD):c.55A>C (p.Ser19Arg) http://identifiers.org/clinvar/129289 ^@ NM_001101426.3(ISPD):c.726A>G (p.Gln242=) http://identifiers.org/clinvar/129290 ^@ NM_001101426.3(ISPD):c.979C>G (p.Leu327Val) http://identifiers.org/clinvar/129291 ^@ NM_002206.2(ITGA7):c.1088dupG (p.His364Serfs) http://identifiers.org/clinvar/129292 ^@ NM_002206.2(ITGA7):c.1617G>T (p.Gln539His) http://identifiers.org/clinvar/129293 ^@ NM_002206.2(ITGA7):c.285G>T (p.Pro95=) http://identifiers.org/clinvar/129294 ^@ NM_002206.2(ITGA7):c.3018C>G (p.Ser1006=) http://identifiers.org/clinvar/129295 ^@ NM_002206.2(ITGA7):c.3031T>C (p.Leu1011=) http://identifiers.org/clinvar/129296 ^@ NM_002206.2(ITGA7):c.3144G>C (p.Gly1048=) http://identifiers.org/clinvar/129297 ^@ NM_002206.2(ITGA7):c.3384C>T (p.Pro1128=) http://identifiers.org/clinvar/129298 ^@ NM_002222.5(ITPR1):c.1962G>A (p.Lys654=) http://identifiers.org/clinvar/129299 ^@ NM_002222.5(ITPR1):c.2613A>C (p.Leu871=) http://identifiers.org/clinvar/129300 ^@ NM_002222.5(ITPR1):c.6507A>G (p.Lys2169=) http://identifiers.org/clinvar/129301 ^@ NM_002222.5(ITPR1):c.6528A>G (p.Thr2176=) http://identifiers.org/clinvar/129302 ^@ NM_002222.5(ITPR1):c.6865C>T (p.Leu2289=) http://identifiers.org/clinvar/129303 ^@ NM_002222.5(ITPR1):c.7446T>C (p.Thr2482=) http://identifiers.org/clinvar/129304 ^@ NM_002222.5(ITPR1):c.7500G>A (p.Lys2500=) http://identifiers.org/clinvar/129305 ^@ NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) http://identifiers.org/clinvar/129306 ^@ NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) http://identifiers.org/clinvar/129307 ^@ NM_001101362.2(KBTBD13):c.1200T>C (p.Gly400=) http://identifiers.org/clinvar/129308 ^@ NM_001101362.2(KBTBD13):c.242C>T (p.Ala81Val) http://identifiers.org/clinvar/129309 ^@ NM_001101362.2(KBTBD13):c.378G>T (p.Ala126=) http://identifiers.org/clinvar/129310 ^@ NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) http://identifiers.org/clinvar/129311 ^@ NM_001101362.2(KBTBD13):c.798A>G (p.Glu266=) http://identifiers.org/clinvar/129312 ^@ NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) http://identifiers.org/clinvar/129313 ^@ NM_000217.2(KCNA1):c.1440T>A (p.Thr480=) http://identifiers.org/clinvar/129314 ^@ NM_004980.4(KCND3):c.264C>T (p.Pro88=) http://identifiers.org/clinvar/129315 ^@ NM_002241.4(KCNJ10):c.501G>A (p.Ala167=) http://identifiers.org/clinvar/129316 ^@ NM_002241.4(KCNJ10):c.53G>A (p.Arg18Gln) http://identifiers.org/clinvar/129317 ^@ NM_002241.4(KCNJ10):c.811C>T (p.Arg271Cys) http://identifiers.org/clinvar/129318 ^@ NM_002241.4(KCNJ10):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/129319 ^@ NM_002247.3(KCNMA1):c.1578G>T (p.Leu526=) http://identifiers.org/clinvar/129320 ^@ NM_002247.3(KCNMA1):c.1680C>A (p.Ala560=) http://identifiers.org/clinvar/129321 ^@ NM_002247.3(KCNMA1):c.2015+7G>A http://identifiers.org/clinvar/129322 ^@ NM_002247.3(KCNMA1):c.2193C>A (p.Asp731Glu) http://identifiers.org/clinvar/129323 ^@ NM_002247.3(KCNMA1):c.2217T>C (p.Asp739=) http://identifiers.org/clinvar/129324 ^@ NM_002247.3(KCNMA1):c.2352C>T (p.Val784=) http://identifiers.org/clinvar/129325 ^@ NM_002247.3(KCNMA1):c.2536-8T>C http://identifiers.org/clinvar/129326 ^@ NM_002247.3(KCNMA1):c.3021C>T (p.Thr1007=) http://identifiers.org/clinvar/129327 ^@ NM_001014797.2(KCNMA1):c.31_54del24 (p.Ser11_Gly18del) http://identifiers.org/clinvar/129328 ^@ NM_002247.3(KCNMA1):c.687C>T (p.Phe229=) http://identifiers.org/clinvar/129329 ^@ NM_002247.3(KCNMA1):c.90C>T (p.His30=) http://identifiers.org/clinvar/129330 ^@ NM_172107.3(KCNQ2):c.1185G>A (p.Arg395=) http://identifiers.org/clinvar/129331 ^@ NM_172107.3(KCNQ2):c.1197delT (p.Ser399Argfs) http://identifiers.org/clinvar/129332 ^@ NM_172107.3(KCNQ2):c.1348G>A (p.Val450Met) http://identifiers.org/clinvar/129333 ^@ NM_172107.3(KCNQ2):c.2264A>G (p.Tyr755Cys) http://identifiers.org/clinvar/129334 ^@ NM_172107.3(KCNQ2):c.2281G>A (p.Ala761Thr) http://identifiers.org/clinvar/129335 ^@ NM_172107.3(KCNQ2):c.2316G>A (p.Pro772=) http://identifiers.org/clinvar/129336 ^@ NM_172107.3(KCNQ2):c.795G>A (p.Ala265=) http://identifiers.org/clinvar/129337 ^@ NM_172107.3(KCNQ2):c.1503C>G (p.Ala501=) http://identifiers.org/clinvar/129338 ^@ NM_172107.3(KCNQ2):c.1719C>T (p.Ala573=) http://identifiers.org/clinvar/129339 ^@ NM_172107.3(KCNQ2):c.1800G>A (p.Thr600=) http://identifiers.org/clinvar/129340 ^@ NM_172107.3(KCNQ2):c.2031G>A (p.Arg677=) http://identifiers.org/clinvar/129341 ^@ NM_172107.3(KCNQ2):c.2235G>A (p.Pro745=) http://identifiers.org/clinvar/129342 ^@ NM_172107.3(KCNQ2):c.2238T>A (p.Pro746=) http://identifiers.org/clinvar/129343 ^@ NM_172107.3(KCNQ2):c.2613G>T (p.Arg871Ser) http://identifiers.org/clinvar/129344 ^@ NM_172107.3(KCNQ2):c.714C>T (p.Ile238=) http://identifiers.org/clinvar/129345 ^@ NM_172107.3(KCNQ2):c.912C>T (p.Phe304=) http://identifiers.org/clinvar/129346 ^@ NM_004519.3(KCNQ3):c.1059C>T (p.Ser353=) http://identifiers.org/clinvar/129347 ^@ NM_004519.3(KCNQ3):c.1071C>G (p.Leu357=) http://identifiers.org/clinvar/129348 ^@ NM_004519.3(KCNQ3):c.1551C>T (p.Ala517=) http://identifiers.org/clinvar/129349 ^@ NM_004519.3(KCNQ3):c.660T>C (p.Asn220=) http://identifiers.org/clinvar/129350 ^@ NM_004519.3(KCNQ3):c.732T>C (p.Gly244=) http://identifiers.org/clinvar/129351 ^@ NM_020822.2(KCNT1):c.116C>T (p.Pro39Leu) http://identifiers.org/clinvar/129352 ^@ NM_020822.2(KCNT1):c.1257C>G (p.Val419=) http://identifiers.org/clinvar/129353 ^@ NM_020822.2(KCNT1):c.1749G>A (p.Ala583=) http://identifiers.org/clinvar/129354 ^@ NM_020822.2(KCNT1):c.1879A>G (p.Ile627Val) http://identifiers.org/clinvar/129355 ^@ NM_020822.2(KCNT1):c.2034C>T (p.Gly678=) http://identifiers.org/clinvar/129356 ^@ NM_020822.2(KCNT1):c.2210C>T (p.Thr737Met) http://identifiers.org/clinvar/129357 ^@ NM_020822.2(KCNT1):c.2427G>A (p.Thr809=) http://identifiers.org/clinvar/129358 ^@ NM_020822.2(KCNT1):c.2543A>G (p.Glu848Gly) http://identifiers.org/clinvar/129359 ^@ NM_020822.2(KCNT1):c.2619C>T (p.Gly873=) http://identifiers.org/clinvar/129360 ^@ NM_020822.2(KCNT1):c.2882G>A (p.Arg961His) http://identifiers.org/clinvar/129361 ^@ NM_020822.2(KCNT1):c.2943+6C>T http://identifiers.org/clinvar/129362 ^@ NM_020822.2(KCNT1):c.3295C>T (p.Pro1099Ser) http://identifiers.org/clinvar/129363 ^@ NM_020822.2(KCNT1):c.3312G>A (p.Leu1104=) http://identifiers.org/clinvar/129364 ^@ NM_020822.2(KCNT1):c.3388G>A (p.Ala1130Thr) http://identifiers.org/clinvar/129365 ^@ NM_020822.2(KCNT1):c.3390G>A (p.Ala1130=) http://identifiers.org/clinvar/129366 ^@ NM_020822.2(KCNT1):c.59G>C (p.Gly20Ala) http://identifiers.org/clinvar/129367 ^@ NM_020822.2(KCNT1):c.711C>G (p.Pro237=) http://identifiers.org/clinvar/129368 ^@ NM_020822.2(KCNT1):c.978A>G (p.Pro326=) http://identifiers.org/clinvar/129369 ^@ NM_153033.4(KCTD7):c.133C>T (p.Leu45=) http://identifiers.org/clinvar/129370 ^@ NM_153033.4(KCTD7):c.267G>A (p.Thr89=) http://identifiers.org/clinvar/129371 ^@ NM_153033.4(KCTD7):c.654C>T (p.Asp218=) http://identifiers.org/clinvar/129372 ^@ NM_004187.3(KDM5C):c.2987A>G (p.Lys996Arg) http://identifiers.org/clinvar/129373 ^@ NM_004187.3(KDM5C):c.1236C>T (p.Pro412=) http://identifiers.org/clinvar/129374 ^@ NM_004187.3(KDM5C):c.1613C>T (p.Pro538Leu) http://identifiers.org/clinvar/129375 ^@ NM_004187.3(KDM5C):c.1884G>A (p.Gln628=) http://identifiers.org/clinvar/129376 ^@ NM_014846.3(WASHC5):c.3291G>A (p.Ala1097=) http://identifiers.org/clinvar/129377 ^@ NM_014846.3(WASHC5):c.597A>G (p.Pro199=) http://identifiers.org/clinvar/129378 ^@ NM_001145642.4(RUBCN):c.1008T>C (p.Thr336=) http://identifiers.org/clinvar/129379 ^@ NM_001145642.4(RUBCN):c.2721A>G (p.Ser907=) http://identifiers.org/clinvar/129380 ^@ NM_001145642.4(RUBCN):c.50G>A (p.Arg17His) http://identifiers.org/clinvar/129381 ^@ NM_001145642.4(RUBCN):c.57G>T (p.Thr19=) http://identifiers.org/clinvar/129382 ^@ NM_001008537.2(KIAA2022):c.151C>A (p.Pro51Thr) http://identifiers.org/clinvar/129383 ^@ NM_001008537.2(KIAA2022):c.2598C>A (p.Ser866=) http://identifiers.org/clinvar/129384 ^@ NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) http://identifiers.org/clinvar/129385 ^@ NM_004321.7(KIF1A):c.2208C>T (p.Ala736=) http://identifiers.org/clinvar/129386 ^@ NM_004321.7(KIF1A):c.234C>T (p.Gly78=) http://identifiers.org/clinvar/129387 ^@ NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) http://identifiers.org/clinvar/129388 ^@ NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) http://identifiers.org/clinvar/129389 ^@ NM_004321.7(KIF1A):c.2769C>T (p.Ser923=) http://identifiers.org/clinvar/129390 ^@ NM_004321.7(KIF1A):c.2979C>T (p.His993=) http://identifiers.org/clinvar/129391 ^@ NM_004321.7(KIF1A):c.3338-8C>T http://identifiers.org/clinvar/129392 ^@ NM_004321.7(KIF1A):c.393C>T (p.Asn131=) http://identifiers.org/clinvar/129393 ^@ NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=) http://identifiers.org/clinvar/129394 ^@ NM_004321.7(KIF1A):c.4016-8C>T http://identifiers.org/clinvar/129395 ^@ NM_004321.7(KIF1A):c.4509C>A (p.Thr1503=) http://identifiers.org/clinvar/129396 ^@ NM_004321.7(KIF1A):c.991T>C (p.Leu331=) http://identifiers.org/clinvar/129397 ^@ NM_004321.7(KIF1A):c.2899+10C>A http://identifiers.org/clinvar/129398 ^@ NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) http://identifiers.org/clinvar/129399 ^@ NM_015074.3(KIF1B):c.285C>G (p.Ala95=) http://identifiers.org/clinvar/129400 ^@ NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) http://identifiers.org/clinvar/129401 ^@ NM_015074.3(KIF1B):c.5163C>A (p.Thr1721=) http://identifiers.org/clinvar/129402 ^@ NM_198525.2(KIF7):c.1013A>G (p.Asn338Ser) http://identifiers.org/clinvar/129403 ^@ NM_198525.2(KIF7):c.1159C>A (p.Arg387Ser) http://identifiers.org/clinvar/129404 ^@ NM_198525.2(KIF7):c.1220C>A (p.Ala407Asp) http://identifiers.org/clinvar/129405 ^@ NM_198525.2(KIF7):c.1444-4A>G http://identifiers.org/clinvar/129406 ^@ NM_198525.2(KIF7):c.154G>A (p.Asp52Asn) http://identifiers.org/clinvar/129407 ^@ NM_198525.2(KIF7):c.1895C>T (p.Pro632Leu) http://identifiers.org/clinvar/129408 ^@ NM_198525.2(KIF7):c.195G>C (p.Ala65=) http://identifiers.org/clinvar/129409 ^@ NM_198525.2(KIF7):c.2043T>A (p.Val681=) http://identifiers.org/clinvar/129410 ^@ NM_198525.2(KIF7):c.216G>A (p.Gln72=) http://identifiers.org/clinvar/129411 ^@ NM_198525.2(KIF7):c.2271C>T (p.Ala757=) http://identifiers.org/clinvar/129412 ^@ NM_198525.2(KIF7):c.2481C>T (p.Asn827=) http://identifiers.org/clinvar/129413 ^@ NM_198525.2(KIF7):c.2658A>C (p.Ala886=) http://identifiers.org/clinvar/129414 ^@ NM_198525.2(KIF7):c.3012C>T (p.Arg1004=) http://identifiers.org/clinvar/129415 ^@ NM_198525.2(KIF7):c.3345C>G (p.His1115Gln) http://identifiers.org/clinvar/129416 ^@ NM_198525.2(KIF7):c.3517+6C>T http://identifiers.org/clinvar/129417 ^@ NM_198525.2(KIF7):c.3999G>C (p.Pro1333=) http://identifiers.org/clinvar/129418 ^@ NM_198525.2(KIF7):c.49C>T (p.Arg17Trp) http://identifiers.org/clinvar/129419 ^@ NM_032531.3(KIRREL3):c.103G>A (p.Ala35Thr) http://identifiers.org/clinvar/129420 ^@ NM_032531.3(KIRREL3):c.116T>A (p.Phe39Tyr) http://identifiers.org/clinvar/129421 ^@ NM_032531.3(KIRREL3):c.1177G>A (p.Ala393Thr) http://identifiers.org/clinvar/129422 ^@ NM_032531.3(KIRREL3):c.655G>A (p.Val219Met) http://identifiers.org/clinvar/129423 ^@ NM_032531.3(KIRREL3):c.1354-6G>C http://identifiers.org/clinvar/129424 ^@ NM_032531.3(KIRREL3):c.1537C>T (p.Arg513Trp) http://identifiers.org/clinvar/129425 ^@ NM_032531.3(KIRREL3):c.1995C>T (p.Gly665=) http://identifiers.org/clinvar/129426 ^@ NM_032531.3(KIRREL3):c.2151C>T (p.Ser717=) http://identifiers.org/clinvar/129427 ^@ NM_032531.3(KIRREL3):c.346A>C (p.Arg116=) http://identifiers.org/clinvar/129428 ^@ NM_032531.3(KIRREL3):c.568A>G (p.Ile190Val) http://identifiers.org/clinvar/129429 ^@ NM_032531.3(KIRREL3):c.908T>C (p.Val303Ala) http://identifiers.org/clinvar/129430 ^@ NM_003597.4(KLF11):c.410A>G (p.Asp137Gly) http://identifiers.org/clinvar/129431 ^@ NM_003597.4(KLF11):c.185A>G (p.Gln62Arg) http://identifiers.org/clinvar/129432 ^@ NM_003597.4(KLF11):c.467G>T (p.Gly156Val) http://identifiers.org/clinvar/129433 ^@ NM_000426.3(LAMA2):c.1491T>C (p.Cys497=) http://identifiers.org/clinvar/129434 ^@ NM_000426.3(LAMA2):c.1533T>C (p.Asn511=) http://identifiers.org/clinvar/129435 ^@ NM_000426.3(LAMA2):c.1930C>G (p.His644Asp) http://identifiers.org/clinvar/129436 ^@ NM_000426.3(LAMA2):c.255C>T (p.Ile85=) http://identifiers.org/clinvar/129437 ^@ NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) http://identifiers.org/clinvar/129438 ^@ NM_000426.3(LAMA2):c.3613A>G (p.Thr1205Ala) http://identifiers.org/clinvar/129439 ^@ NM_000426.3(LAMA2):c.6167C>A (p.Thr2056Lys) http://identifiers.org/clinvar/129440 ^@ NM_000426.3(LAMA2):c.6234A>G (p.Lys2078=) http://identifiers.org/clinvar/129441 ^@ NM_000426.3(LAMA2):c.6539A>T (p.Asp2180Val) http://identifiers.org/clinvar/129442 ^@ NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) http://identifiers.org/clinvar/129443 ^@ NM_000426.3(LAMA2):c.8028T>C (p.Asn2676=) http://identifiers.org/clinvar/129444 ^@ NM_000426.3(LAMA2):c.8124T>A (p.Gly2708=) http://identifiers.org/clinvar/129445 ^@ NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) http://identifiers.org/clinvar/129446 ^@ NM_000426.3(LAMA2):c.8691A>G (p.Arg2897=) http://identifiers.org/clinvar/129447 ^@ NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) http://identifiers.org/clinvar/129448 ^@ NM_006059.3(LAMC3):c.1047C>T (p.Gly349=) http://identifiers.org/clinvar/129449 ^@ NM_006059.3(LAMC3):c.1218G>A (p.Thr406=) http://identifiers.org/clinvar/129450 ^@ NM_006059.3(LAMC3):c.1330C>T (p.Arg444Cys) http://identifiers.org/clinvar/129451 ^@ NM_006059.3(LAMC3):c.1564C>T (p.Pro522Ser) http://identifiers.org/clinvar/129452 ^@ NM_006059.3(LAMC3):c.1631A>G (p.Glu544Gly) http://identifiers.org/clinvar/129453 ^@ NM_006059.3(LAMC3):c.1792G>A (p.Gly598Arg) http://identifiers.org/clinvar/129454 ^@ NM_006059.3(LAMC3):c.1932C>T (p.Ser644=) http://identifiers.org/clinvar/129455 ^@ NM_006059.3(LAMC3):c.219T>G (p.His73Gln) http://identifiers.org/clinvar/129456 ^@ NM_006059.3(LAMC3):c.2308C>G (p.Arg770Gly) http://identifiers.org/clinvar/129457 ^@ NM_006059.3(LAMC3):c.2559C>T (p.Ser853=) http://identifiers.org/clinvar/129458 ^@ NM_006059.3(LAMC3):c.3108G>A (p.Gly1036=) http://identifiers.org/clinvar/129459 ^@ NM_006059.3(LAMC3):c.3114C>G (p.Leu1038=) http://identifiers.org/clinvar/129460 ^@ NM_006059.3(LAMC3):c.3244A>G (p.Ser1082Gly) http://identifiers.org/clinvar/129461 ^@ NM_006059.3(LAMC3):c.3371C>T (p.Ser1124Phe) http://identifiers.org/clinvar/129462 ^@ NM_006059.3(LAMC3):c.3507C>T (p.Thr1169=) http://identifiers.org/clinvar/129463 ^@ NM_006059.3(LAMC3):c.3790C>T (p.Arg1264Trp) http://identifiers.org/clinvar/129464 ^@ NM_006059.3(LAMC3):c.4231-10C>T http://identifiers.org/clinvar/129465 ^@ NM_006059.3(LAMC3):c.4298C>T (p.Thr1433Met) http://identifiers.org/clinvar/129466 ^@ NM_006059.3(LAMC3):c.4376G>A (p.Arg1459Gln) http://identifiers.org/clinvar/129467 ^@ NM_006059.3(LAMC3):c.4378-4A>G http://identifiers.org/clinvar/129468 ^@ NM_006059.3(LAMC3):c.454C>T (p.Arg152Cys) http://identifiers.org/clinvar/129469 ^@ NM_006059.3(LAMC3):c.4561T>G (p.Ser1521Ala) http://identifiers.org/clinvar/129470 ^@ NM_006059.3(LAMC3):c.521C>A (p.Pro174His) http://identifiers.org/clinvar/129471 ^@ NM_006059.3(LAMC3):c.522C>G (p.Pro174=) http://identifiers.org/clinvar/129472 ^@ NM_006059.3(LAMC3):c.75C>T (p.Cys25=) http://identifiers.org/clinvar/129473 ^@ NM_006059.3(LAMC3):c.786G>A (p.Val262=) http://identifiers.org/clinvar/129474 ^@ NM_006059.3(LAMC3):c.855A>G (p.Ala285=) http://identifiers.org/clinvar/129475 ^@ NM_006059.3(LAMC3):c.92G>T (p.Arg31Leu) http://identifiers.org/clinvar/129476 ^@ NM_006059.3(LAMC3):c.944G>A (p.Arg315Gln) http://identifiers.org/clinvar/129477 ^@ NM_006059.3(LAMC3):c.963C>T (p.Ala321=) http://identifiers.org/clinvar/129478 ^@ NM_015454.2(LARP7):c.10G>A (p.Glu4Lys) http://identifiers.org/clinvar/129479 ^@ NM_015454.2(LARP7):c.651G>C (p.Glu217Asp) http://identifiers.org/clinvar/129480 ^@ NM_015454.2(LARP7):c.836G>A (p.Arg279Gln) http://identifiers.org/clinvar/129481 ^@ NM_005097.3(LGI1):c.519T>C (p.Asn173=) http://identifiers.org/clinvar/129482 ^@ NM_002312.3(LIG4):c.1704T>C (p.Asp568=) http://identifiers.org/clinvar/129483 ^@ NM_001040616.2(LINS1):c.1124C>T (p.Thr375Ile) http://identifiers.org/clinvar/129484 ^@ NM_001040616.2(LINS1):c.2119G>A (p.Gly707Arg) http://identifiers.org/clinvar/129485 ^@ NM_001040616.2(LINS1):c.2236A>G (p.Ile746Val) http://identifiers.org/clinvar/129486 ^@ NM_005573.3(LMNB1):c.432G>A (p.Ser144=) http://identifiers.org/clinvar/129487 ^@ NM_032737.3(LMNB2):c.391G>T (p.Val131Phe) http://identifiers.org/clinvar/129488 ^@ NM_032737.3(LMNB2):c.1416T>C (p.Gly472=) http://identifiers.org/clinvar/129489 ^@ NM_004525.2(LRP2):c.7384_7390+8dup http://identifiers.org/clinvar/129490 ^@ NM_004525.2(LRP2):c.10503G>A (p.Gln3501=) http://identifiers.org/clinvar/129491 ^@ NM_004525.2(LRP2):c.10804G>A (p.Ala3602Thr) http://identifiers.org/clinvar/129492 ^@ NM_004525.2(LRP2):c.11092G>A (p.Val3698Met) http://identifiers.org/clinvar/129493 ^@ NM_004525.2(LRP2):c.11601T>C (p.Cys3867=) http://identifiers.org/clinvar/129494 ^@ NM_004525.2(LRP2):c.1167T>G (p.Asp389Glu) http://identifiers.org/clinvar/129495 ^@ NM_004525.2(LRP2):c.1172-8G>A http://identifiers.org/clinvar/129496 ^@ NM_004525.2(LRP2):c.11759-5T>G http://identifiers.org/clinvar/129497 ^@ NM_004525.2(LRP2):c.11996T>G (p.Val3999Gly) http://identifiers.org/clinvar/129498 ^@ NM_004525.2(LRP2):c.12125G>A (p.Arg4042His) http://identifiers.org/clinvar/129499 ^@ NM_004525.2(LRP2):c.12151+4T>C http://identifiers.org/clinvar/129500 ^@ NM_004525.2(LRP2):c.12280A>G (p.Lys4094Glu) http://identifiers.org/clinvar/129501 ^@ NM_004525.2(LRP2):c.12628A>C (p.Ile4210Leu) http://identifiers.org/clinvar/129502 ^@ NM_004525.2(LRP2):c.13113C>T (p.Ile4371=) http://identifiers.org/clinvar/129503 ^@ NM_004525.2(LRP2):c.13134C>G (p.Pro4378=) http://identifiers.org/clinvar/129504 ^@ NM_004525.2(LRP2):c.13155C>T (p.His4385=) http://identifiers.org/clinvar/129505 ^@ NM_004525.2(LRP2):c.13250G>A (p.Gly4417Asp) http://identifiers.org/clinvar/129506 ^@ NM_004525.2(LRP2):c.2006G>A (p.Gly669Asp) http://identifiers.org/clinvar/129507 ^@ NM_004525.2(LRP2):c.2025C>T (p.Val675=) http://identifiers.org/clinvar/129508 ^@ NM_004525.2(LRP2):c.2175C>T (p.Thr725=) http://identifiers.org/clinvar/129509 ^@ NM_004525.2(LRP2):c.2376T>C (p.Asp792=) http://identifiers.org/clinvar/129510 ^@ NM_004525.2(LRP2):c.2460A>G (p.Thr820=) http://identifiers.org/clinvar/129511 ^@ NM_004525.2(LRP2):c.248A>G (p.Asn83Ser) http://identifiers.org/clinvar/129512 ^@ NM_004525.2(LRP2):c.2603C>G (p.Thr868Ser) http://identifiers.org/clinvar/129513 ^@ NM_004525.2(LRP2):c.2618A>G (p.Asn873Ser) http://identifiers.org/clinvar/129514 ^@ NM_004525.2(LRP2):c.2738T>C (p.Met913Thr) http://identifiers.org/clinvar/129515 ^@ NM_004525.2(LRP2):c.3054C>A (p.Thr1018=) http://identifiers.org/clinvar/129516 ^@ NM_004525.2(LRP2):c.3069A>G (p.Thr1023=) http://identifiers.org/clinvar/129517 ^@ NM_004525.2(LRP2):c.3295C>T (p.His1099Tyr) http://identifiers.org/clinvar/129518 ^@ NM_004525.2(LRP2):c.3452C>T (p.Pro1151Leu) http://identifiers.org/clinvar/129519 ^@ NM_004525.2(LRP2):c.3660A>G (p.Ala1220=) http://identifiers.org/clinvar/129520 ^@ NM_004525.2(LRP2):c.3836A>C (p.Asp1279Ala) http://identifiers.org/clinvar/129521 ^@ NM_004525.2(LRP2):c.402C>A (p.Pro134=) http://identifiers.org/clinvar/129522 ^@ NM_004525.2(LRP2):c.4046-6T>C http://identifiers.org/clinvar/129523 ^@ NM_004525.2(LRP2):c.4236G>C (p.Arg1412=) http://identifiers.org/clinvar/129524 ^@ NM_004525.2(LRP2):c.4344C>G (p.Ala1448=) http://identifiers.org/clinvar/129525 ^@ NM_004525.2(LRP2):c.4766G>A (p.Arg1589His) http://identifiers.org/clinvar/129526 ^@ NM_004525.2(LRP2):c.4875T>C (p.Cys1625=) http://identifiers.org/clinvar/129527 ^@ NM_004525.2(LRP2):c.5085G>A (p.Ser1695=) http://identifiers.org/clinvar/129528 ^@ NM_004525.2(LRP2):c.5100C>T (p.Ser1700=) http://identifiers.org/clinvar/129529 ^@ NM_004525.2(LRP2):c.5293G>A (p.Val1765Met) http://identifiers.org/clinvar/129530 ^@ NM_004525.2(LRP2):c.5859A>G (p.Arg1953=) http://identifiers.org/clinvar/129531 ^@ NM_004525.2(LRP2):c.6045C>T (p.Ala2015=) http://identifiers.org/clinvar/129532 ^@ NM_004525.2(LRP2):c.6194T>C (p.Ile2065Thr) http://identifiers.org/clinvar/129533 ^@ NM_004525.2(LRP2):c.639C>T (p.Asp213=) http://identifiers.org/clinvar/129534 ^@ NM_004525.2(LRP2):c.63G>C (p.Ala21=) http://identifiers.org/clinvar/129535 ^@ NM_004525.2(LRP2):c.6759T>C (p.Asp2253=) http://identifiers.org/clinvar/129536 ^@ NM_004525.2(LRP2):c.7626C>G (p.Arg2542=) http://identifiers.org/clinvar/129537 ^@ NM_004525.2(LRP2):c.769+9G>A http://identifiers.org/clinvar/129538 ^@ NM_004525.2(LRP2):c.7742C>T (p.Thr2581Met) http://identifiers.org/clinvar/129539 ^@ NM_004525.2(LRP2):c.775G>C (p.Gly259Arg) http://identifiers.org/clinvar/129540 ^@ NM_004525.2(LRP2):c.7894A>G (p.Asn2632Asp) http://identifiers.org/clinvar/129541 ^@ NM_004525.2(LRP2):c.8132G>A (p.Arg2711His) http://identifiers.org/clinvar/129542 ^@ NM_004525.2(LRP2):c.8614G>A (p.Ala2872Thr) http://identifiers.org/clinvar/129543 ^@ NM_004525.2(LRP2):c.9033-8T>C http://identifiers.org/clinvar/129544 ^@ NM_004525.2(LRP2):c.910G>A (p.Gly304Arg) http://identifiers.org/clinvar/129545 ^@ NM_004525.2(LRP2):c.923-6G>A http://identifiers.org/clinvar/129546 ^@ NM_004525.2(LRP2):c.92C>T (p.Ala31Val) http://identifiers.org/clinvar/129547 ^@ NM_133259.3(LRPPRC):c.1068A>G (p.Gln356=) http://identifiers.org/clinvar/129548 ^@ NM_133259.3(LRPPRC):c.246G>A (p.Gln82=) http://identifiers.org/clinvar/129549 ^@ NM_133259.3(LRPPRC):c.2562A>G (p.Val854=) http://identifiers.org/clinvar/129550 ^@ NM_012301.3(MAGI2):c.1713C>T (p.Ser571=) http://identifiers.org/clinvar/129551 ^@ NM_012301.3(MAGI2):c.2131C>A (p.Pro711Thr) http://identifiers.org/clinvar/129552 ^@ NM_012301.3(MAGI2):c.2793C>T (p.Phe931=) http://identifiers.org/clinvar/129553 ^@ NM_012301.3(MAGI2):c.3400C>G (p.Leu1134Val) http://identifiers.org/clinvar/129554 ^@ NM_012301.3(MAGI2):c.4353G>A (p.Ser1451=) http://identifiers.org/clinvar/129555 ^@ NM_012301.3(MAGI2):c.878C>T (p.Thr293Ile) http://identifiers.org/clinvar/129556 ^@ NM_012301.3(MAGI2):c.893A>G (p.Asn298Ser) http://identifiers.org/clinvar/129557 ^@ NM_012301.3(MAGI2):c.1014G>A (p.Lys338=) http://identifiers.org/clinvar/129558 ^@ NM_012301.3(MAGI2):c.219C>T (p.Pro73=) http://identifiers.org/clinvar/129559 ^@ NM_012301.3(MAGI2):c.2213G>A (p.Arg738Gln) http://identifiers.org/clinvar/129560 ^@ NM_012301.3(MAGI2):c.2329T>C (p.Leu777=) http://identifiers.org/clinvar/129561 ^@ NM_012301.3(MAGI2):c.2379C>T (p.Leu793=) http://identifiers.org/clinvar/129562 ^@ NM_012301.3(MAGI2):c.2723C>A (p.Pro908His) http://identifiers.org/clinvar/129563 ^@ NM_012301.3(MAGI2):c.2784T>C (p.Asn928=) http://identifiers.org/clinvar/129564 ^@ NM_012301.3(MAGI2):c.3213G>A (p.Ser1071=) http://identifiers.org/clinvar/129565 ^@ NM_012301.3(MAGI2):c.3357A>G (p.Leu1119=) http://identifiers.org/clinvar/129566 ^@ NM_012301.3(MAGI2):c.531T>C (p.Thr177=) http://identifiers.org/clinvar/129567 ^@ NM_012301.3(MAGI2):c.900A>G (p.Glu300=) http://identifiers.org/clinvar/129568 ^@ NM_032121.5(MAGT1):c.747T>A (p.Thr249=) http://identifiers.org/clinvar/129569 ^@ NM_016219.4(MAN1B1):c.1229G>A (p.Arg410His) http://identifiers.org/clinvar/129570 ^@ NM_016219.4(MAN1B1):c.1255-5C>T http://identifiers.org/clinvar/129571 ^@ NM_016219.4(MAN1B1):c.2020G>A (p.Asp674Asn) http://identifiers.org/clinvar/129572 ^@ NM_016219.4(MAN1B1):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/129573 ^@ NM_016219.4(MAN1B1):c.1765-5C>A http://identifiers.org/clinvar/129574 ^@ NM_016219.4(MAN1B1):c.176A>G (p.Asn59Ser) http://identifiers.org/clinvar/129575 ^@ NM_016219.4(MAN1B1):c.1841G>A (p.Arg614His) http://identifiers.org/clinvar/129576 ^@ NM_016219.4(MAN1B1):c.1932C>T (p.Val644=) http://identifiers.org/clinvar/129577 ^@ NM_016219.4(MAN1B1):c.2046T>C (p.Asp682=) http://identifiers.org/clinvar/129578 ^@ NM_016219.4(MAN1B1):c.2052C>T (p.Tyr684=) http://identifiers.org/clinvar/129579 ^@ NM_016219.4(MAN1B1):c.403G>A (p.Val135Ile) http://identifiers.org/clinvar/129580 ^@ NM_016219.4(MAN1B1):c.590C>T (p.Pro197Leu) http://identifiers.org/clinvar/129581 ^@ NM_016219.4(MAN1B1):c.602C>T (p.Pro201Leu) http://identifiers.org/clinvar/129582 ^@ NM_016219.4(MAN1B1):c.719A>G (p.Gln240Arg) http://identifiers.org/clinvar/129583 ^@ NM_016219.4(MAN1B1):c.776A>G (p.His259Arg) http://identifiers.org/clinvar/129584 ^@ NM_000528.3(MAN2B1):c.1238A>G (p.Asn413Ser) http://identifiers.org/clinvar/129585 ^@ NM_000240.3(MAOA):c.385A>C (p.Arg129=) http://identifiers.org/clinvar/129586 ^@ NM_002753.4(MAPK10):c.1111-6C>T http://identifiers.org/clinvar/129587 ^@ NM_002753.4(MAPK10):c.960G>A (p.Ala320=) http://identifiers.org/clinvar/129588 ^@ NM_005120.2(MED12):c.3785G>A (p.Arg1262Lys) http://identifiers.org/clinvar/129589 ^@ NM_005120.2(MED12):c.934G>C (p.Val312Leu) http://identifiers.org/clinvar/129590 ^@ NM_005120.2(MED12):c.2259G>A (p.Arg753=) http://identifiers.org/clinvar/129591 ^@ NM_005120.2(MED12):c.3797G>A (p.Arg1266His) http://identifiers.org/clinvar/129592 ^@ NM_005120.2(MED12):c.3868-7T>A http://identifiers.org/clinvar/129593 ^@ NM_005120.2(MED12):c.5650G>A (p.Gly1884Ser) http://identifiers.org/clinvar/129594 ^@ NM_004268.4(MED17):c.1418C>T (p.Ser473Phe) http://identifiers.org/clinvar/129595 ^@ NM_004268.4(MED17):c.1482A>G (p.Gln494=) http://identifiers.org/clinvar/129596 ^@ NM_004268.4(MED17):c.1071T>A (p.Phe357Leu) http://identifiers.org/clinvar/129597 ^@ NM_004268.4(MED17):c.1092G>A (p.Pro364=) http://identifiers.org/clinvar/129598 ^@ NM_004268.4(MED17):c.1260A>G (p.Ser420=) http://identifiers.org/clinvar/129599 ^@ NM_004268.4(MED17):c.1548T>C (p.Tyr516=) http://identifiers.org/clinvar/129600 ^@ NM_004268.4(MED17):c.195C>G (p.Gly65=) http://identifiers.org/clinvar/129601 ^@ NM_004268.4(MED17):c.207G>C (p.Glu69Asp) http://identifiers.org/clinvar/129602 ^@ NM_004268.4(MED17):c.251-8C>T http://identifiers.org/clinvar/129603 ^@ NM_004268.4(MED17):c.342T>C (p.Asp114=) http://identifiers.org/clinvar/129604 ^@ NM_004268.4(MED17):c.516C>T (p.Thr172=) http://identifiers.org/clinvar/129605 ^@ NM_004268.4(MED17):c.571C>T (p.Arg191Trp) http://identifiers.org/clinvar/129606 ^@ NM_004268.4(MED17):c.978G>C (p.Val326=) http://identifiers.org/clinvar/129607 ^@ NM_015979.3(MED23):c.3330T>C (p.Ala1110=) http://identifiers.org/clinvar/129608 ^@ NM_152778.2(MFSD8):c.1153G>C (p.Gly385Arg) http://identifiers.org/clinvar/129609 ^@ NM_152778.2(MFSD8):c.1268C>T (p.Ala423Val) http://identifiers.org/clinvar/129610 ^@ NM_152778.2(MFSD8):c.573A>G (p.Thr191=) http://identifiers.org/clinvar/129611 ^@ NM_152778.2(MFSD8):c.66A>T (p.Glu22Asp) http://identifiers.org/clinvar/129612 ^@ NM_000381.3(MID1):c.75C>T (p.Cys25=) http://identifiers.org/clinvar/129613 ^@ NM_015166.3(MLC1):c.1053T>C (p.Ala351=) http://identifiers.org/clinvar/129614 ^@ NM_015166.3(MLC1):c.594C>T (p.Tyr198=) http://identifiers.org/clinvar/129615 ^@ NM_015166.3(MLC1):c.597A>G (p.Ser199=) http://identifiers.org/clinvar/129616 ^@ NM_015166.3(MLC1):c.895-9C>T http://identifiers.org/clinvar/129617 ^@ NM_015166.3(MLC1):c.978C>T (p.Cys326=) http://identifiers.org/clinvar/129618 ^@ NM_015166.3(MLC1):c.996T>C (p.Ser332=) http://identifiers.org/clinvar/129619 ^@ NM_000530.7(MPZ):c.684C>T (p.Ser228=) http://identifiers.org/clinvar/129620 ^@ NM_001194999.1(MR1):c.116A>G (p.His39Arg) http://identifiers.org/clinvar/129621 ^@ NM_001194999.1(MR1):c.138G>A (p.Ser46=) http://identifiers.org/clinvar/129622 ^@ NM_005591.3(MRE11):c.2092A>G (p.Met698Val) http://identifiers.org/clinvar/129623 ^@ NM_005591.3(MRE11):c.403-6G>A http://identifiers.org/clinvar/129624 ^@ NM_018109.3(MTPAP):c.484C>T (p.Arg162Cys) http://identifiers.org/clinvar/129625 ^@ NM_000253.3(MTTP):c.453T>C (p.Gly151=) http://identifiers.org/clinvar/129626 ^@ NM_000253.3(MTTP):c.522T>C (p.Cys174=) http://identifiers.org/clinvar/129627 ^@ NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) http://identifiers.org/clinvar/129628 ^@ NM_000253.3(MTTP):c.891C>G (p.His297Gln) http://identifiers.org/clinvar/129629 ^@ NM_000253.3(MTTP):c.969T>C (p.Ala323=) http://identifiers.org/clinvar/129630 ^@ NM_005592.3(MUSK):c.1239G>A (p.Met413Ile) http://identifiers.org/clinvar/129631 ^@ NM_005592.3(MUSK):c.2202C>T (p.Gly734=) http://identifiers.org/clinvar/129632 ^@ NM_005592.3(MUSK):c.225C>T (p.Tyr75=) http://identifiers.org/clinvar/129633 ^@ NM_005592.3(MUSK):c.2485G>T (p.Val829Leu) http://identifiers.org/clinvar/129634 ^@ NM_005592.3(MUSK):c.299C>T (p.Thr100Met) http://identifiers.org/clinvar/129635 ^@ NM_005592.3(MUSK):c.402G>A (p.Glu134=) http://identifiers.org/clinvar/129636 ^@ NM_005592.3(MUSK):c.475A>G (p.Ser159Gly) http://identifiers.org/clinvar/129637 ^@ NM_005592.3(MUSK):c.537C>T (p.Asn179=) http://identifiers.org/clinvar/129638 ^@ NM_000431.3(MVK):c.155G>A (p.Ser52Asn) http://identifiers.org/clinvar/129639 ^@ NM_000431.3(MVK):c.405G>A (p.Ser135=) http://identifiers.org/clinvar/129640 ^@ NM_000431.3(MVK):c.510C>T (p.Asp170=) http://identifiers.org/clinvar/129641 ^@ NM_002465.3(MYBPC1):c.1386A>T (p.Thr462=) http://identifiers.org/clinvar/129642 ^@ NM_002465.3(MYBPC1):c.1518C>G (p.His506Gln) http://identifiers.org/clinvar/129643 ^@ NM_002465.3(MYBPC1):c.2010C>T (p.Tyr670=) http://identifiers.org/clinvar/129644 ^@ NM_002465.3(MYBPC1):c.2544T>C (p.Ile848=) http://identifiers.org/clinvar/129645 ^@ NM_002465.3(MYBPC1):c.2817A>G (p.Pro939=) http://identifiers.org/clinvar/129646 ^@ NM_002465.3(MYBPC1):c.556+10C>G http://identifiers.org/clinvar/129647 ^@ NM_002465.3(MYBPC1):c.774C>T (p.Asp258=) http://identifiers.org/clinvar/129648 ^@ NM_002470.3(MYH3):c.2106C>T (p.Gly702=) http://identifiers.org/clinvar/129649 ^@ NM_002470.3(MYH3):c.2151C>A (p.Gly717=) http://identifiers.org/clinvar/129650 ^@ NM_002470.3(MYH3):c.2532A>G (p.Ala844=) http://identifiers.org/clinvar/129651 ^@ NM_002470.3(MYH3):c.2610A>G (p.Lys870=) http://identifiers.org/clinvar/129652 ^@ NM_002470.3(MYH3):c.2916A>G (p.Thr972=) http://identifiers.org/clinvar/129653 ^@ NM_002470.3(MYH3):c.2952T>C (p.Ser984=) http://identifiers.org/clinvar/129654 ^@ NM_002470.3(MYH3):c.3008C>T (p.Ala1003Val) http://identifiers.org/clinvar/129655 ^@ NM_002470.3(MYH3):c.3009G>A (p.Ala1003=) http://identifiers.org/clinvar/129656 ^@ NM_002470.3(MYH3):c.3138A>C (p.Arg1046=) http://identifiers.org/clinvar/129657 ^@ NM_002470.3(MYH3):c.3348T>C (p.Ile1116=) http://identifiers.org/clinvar/129658 ^@ NM_002470.3(MYH3):c.3574G>A (p.Ala1192Thr) http://identifiers.org/clinvar/129659 ^@ NM_002470.3(MYH3):c.3726T>C (p.Ser1242=) http://identifiers.org/clinvar/129660 ^@ NM_002470.3(MYH3):c.3938C>T (p.Thr1313Ile) http://identifiers.org/clinvar/129661 ^@ NM_002470.3(MYH3):c.4128C>T (p.Tyr1376=) http://identifiers.org/clinvar/129662 ^@ NM_002470.3(MYH3):c.4155A>G (p.Glu1385=) http://identifiers.org/clinvar/129663 ^@ NM_002470.3(MYH3):c.4731C>T (p.Ile1577=) http://identifiers.org/clinvar/129664 ^@ NM_002470.3(MYH3):c.5254G>A (p.Ala1752Thr) http://identifiers.org/clinvar/129665 ^@ NM_002470.3(MYH3):c.5457+3G>A http://identifiers.org/clinvar/129666 ^@ NM_002470.3(MYH3):c.699C>T (p.Asn233=) http://identifiers.org/clinvar/129667 ^@ NM_002470.3(MYH3):c.6T>C (p.Ser2=) http://identifiers.org/clinvar/129668 ^@ NM_000257.3(MYH7):c.3474C>T (p.Ser1158=) http://identifiers.org/clinvar/129669 ^@ NM_002472.2(MYH8):c.1209C>A (p.Cys403Ter) http://identifiers.org/clinvar/129670 ^@ NM_002472.2(MYH8):c.1701G>A (p.Gln567=) http://identifiers.org/clinvar/129671 ^@ NM_002472.2(MYH8):c.1907C>T (p.Ala636Val) http://identifiers.org/clinvar/129672 ^@ NM_002472.2(MYH8):c.2016C>T (p.Phe672=) http://identifiers.org/clinvar/129673 ^@ NM_002472.2(MYH8):c.3117G>A (p.Gly1039=) http://identifiers.org/clinvar/129674 ^@ NM_002472.2(MYH8):c.3270C>T (p.Ile1090=) http://identifiers.org/clinvar/129675 ^@ NM_002472.2(MYH8):c.3686T>C (p.Met1229Thr) http://identifiers.org/clinvar/129676 ^@ NM_002472.2(MYH8):c.3757C>T (p.Arg1253Cys) http://identifiers.org/clinvar/129677 ^@ NM_002472.2(MYH8):c.4233C>T (p.Asn1411=) http://identifiers.org/clinvar/129678 ^@ NM_002472.2(MYH8):c.5074T>C (p.Trp1692Arg) http://identifiers.org/clinvar/129679 ^@ NM_002472.2(MYH8):c.5208C>T (p.Asp1736=) http://identifiers.org/clinvar/129680 ^@ NM_002472.2(MYH8):c.714T>C (p.Thr238=) http://identifiers.org/clinvar/129681 ^@ NM_002472.2(MYH8):c.805+9C>T http://identifiers.org/clinvar/129682 ^@ NM_006790.2(MYOT):c.122T>C (p.Ile41Thr) http://identifiers.org/clinvar/129683 ^@ NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) http://identifiers.org/clinvar/129684 ^@ NM_006790.2(MYOT):c.780G>A (p.Ser260=) http://identifiers.org/clinvar/129685 ^@ NM_004544.3(NDUFA10):c.105A>G (p.Lys35=) http://identifiers.org/clinvar/129686 ^@ NM_004544.3(NDUFA10):c.771A>G (p.Gln257=) http://identifiers.org/clinvar/129687 ^@ NM_005002.4(NDUFA9):c.881C>T (p.Pro294Leu) http://identifiers.org/clinvar/129688 ^@ NM_016013.3(NDUFAF1):c.26G>A (p.Arg9His) http://identifiers.org/clinvar/129689 ^@ NM_016013.3(NDUFAF1):c.92G>T (p.Arg31Leu) http://identifiers.org/clinvar/129690 ^@ NM_016013.3(NDUFAF1):c.941C>G (p.Ala314Gly) http://identifiers.org/clinvar/129691 ^@ NM_174889.4(NDUFAF2):c.60G>A (p.Lys20=) http://identifiers.org/clinvar/129692 ^@ NM_014165.3(NDUFAF4):c.420G>A (p.Gln140=) http://identifiers.org/clinvar/129693 ^@ NM_014165.3(NDUFAF4):c.430T>C (p.Leu144=) http://identifiers.org/clinvar/129694 ^@ NM_024120.4(NDUFAF5):c.582C>T (p.Leu194=) http://identifiers.org/clinvar/129695 ^@ NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) http://identifiers.org/clinvar/129696 ^@ NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) http://identifiers.org/clinvar/129697 ^@ NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) http://identifiers.org/clinvar/129698 ^@ NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) http://identifiers.org/clinvar/129699 ^@ NM_002495.3(NDUFS4):c.12G>C (p.Val4=) http://identifiers.org/clinvar/129700 ^@ NM_002495.3(NDUFS4):c.198A>C (p.Gly66=) http://identifiers.org/clinvar/129701 ^@ NM_002495.3(NDUFS4):c.312A>G (p.Arg104=) http://identifiers.org/clinvar/129702 ^@ NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu) http://identifiers.org/clinvar/129703 ^@ NM_021074.4(NDUFV2):c.201A>T (p.Val67=) http://identifiers.org/clinvar/129704 ^@ NM_001271208.1(NEB):c.19712_19716delCTTATinsGAG (p.Ala6571Glyfs) http://identifiers.org/clinvar/129705 ^@ NM_004543.4(NEB):c.10015G>A (p.Val3339Ile) http://identifiers.org/clinvar/129706 ^@ NM_004543.4(NEB):c.10419G>C (p.Met3473Ile) http://identifiers.org/clinvar/129707 ^@ NM_004543.4(NEB):c.11000A>G (p.Asp3667Gly) http://identifiers.org/clinvar/129708 ^@ NM_004543.4(NEB):c.11040T>C (p.Ile3680=) http://identifiers.org/clinvar/129709 ^@ NM_004543.4(NEB):c.11518C>T (p.Arg3840Cys) http://identifiers.org/clinvar/129710 ^@ NM_004543.4(NEB):c.11659T>A (p.Ser3887Thr) http://identifiers.org/clinvar/129711 ^@ NM_004543.4(NEB):c.11921G>T (p.Arg3974Leu) http://identifiers.org/clinvar/129712 ^@ NM_004543.4(NEB):c.13010A>G (p.Asn4337Ser) http://identifiers.org/clinvar/129713 ^@ NM_004543.4(NEB):c.13452G>A (p.Lys4484=) http://identifiers.org/clinvar/129714 ^@ NM_004543.4(NEB):c.13590G>C (p.Ala4530=) http://identifiers.org/clinvar/129715 ^@ NM_004543.4(NEB):c.13894-10T>C http://identifiers.org/clinvar/129716 ^@ NM_004543.4(NEB):c.13953G>T (p.Thr4651=) http://identifiers.org/clinvar/129717 ^@ NM_004543.4(NEB):c.13999-6C>T http://identifiers.org/clinvar/129718 ^@ NM_004543.4(NEB):c.14208C>T (p.Ser4736=) http://identifiers.org/clinvar/129719 ^@ NM_004543.4(NEB):c.14629-6C>T http://identifiers.org/clinvar/129720 ^@ NM_004543.4(NEB):c.14975C>T (p.Thr4992Ile) http://identifiers.org/clinvar/129721 ^@ NM_004543.4(NEB):c.15089A>T (p.Asp5030Val) http://identifiers.org/clinvar/129722 ^@ NM_004543.4(NEB):c.15495C>G (p.Gly5165=) http://identifiers.org/clinvar/129723 ^@ NM_004543.4(NEB):c.15663C>T (p.Asp5221=) http://identifiers.org/clinvar/129724 ^@ NM_004543.4(NEB):c.15941C>G (p.Ser5314Cys) http://identifiers.org/clinvar/129725 ^@ NM_004543.4(NEB):c.16416C>T (p.Ser5472=) http://identifiers.org/clinvar/129726 ^@ NM_004543.4(NEB):c.16617C>T (p.Tyr5539=) http://identifiers.org/clinvar/129727 ^@ NM_004543.4(NEB):c.1675-9T>G http://identifiers.org/clinvar/129728 ^@ NM_004543.4(NEB):c.16753G>A (p.Asp5585Asn) http://identifiers.org/clinvar/129729 ^@ NM_004543.4(NEB):c.16860A>G (p.Lys5620=) http://identifiers.org/clinvar/129730 ^@ NM_004543.4(NEB):c.17325C>T (p.Leu5775=) http://identifiers.org/clinvar/129731 ^@ NM_004543.4(NEB):c.17329C>T (p.Arg5777Cys) http://identifiers.org/clinvar/129732 ^@ NM_004543.4(NEB):c.18278C>T (p.Ser6093Leu) http://identifiers.org/clinvar/129733 ^@ NM_004543.4(NEB):c.18392C>T (p.Thr6131Ile) http://identifiers.org/clinvar/129734 ^@ NM_004543.4(NEB):c.18408G>A (p.Thr6136=) http://identifiers.org/clinvar/129735 ^@ NM_004543.4(NEB):c.19827T>G (p.Ser6609=) http://identifiers.org/clinvar/129736 ^@ NM_004543.4(NEB):c.244A>G (p.Met82Val) http://identifiers.org/clinvar/129737 ^@ NM_004543.4(NEB):c.2640C>T (p.Arg880=) http://identifiers.org/clinvar/129738 ^@ NM_004543.4(NEB):c.2944-9G>A http://identifiers.org/clinvar/129739 ^@ NM_004543.4(NEB):c.3147+5G>A http://identifiers.org/clinvar/129740 ^@ NM_004543.4(NEB):c.3412A>G (p.Asn1138Asp) http://identifiers.org/clinvar/129741 ^@ NM_004543.4(NEB):c.3567+1G>A http://identifiers.org/clinvar/129742 ^@ NM_004543.4(NEB):c.3775-6T>C http://identifiers.org/clinvar/129743 ^@ NM_004543.4(NEB):c.4407G>C (p.Glu1469Asp) http://identifiers.org/clinvar/129744 ^@ NM_004543.4(NEB):c.4435G>A (p.Val1479Ile) http://identifiers.org/clinvar/129745 ^@ NM_004543.4(NEB):c.5102T>C (p.Val1701Ala) http://identifiers.org/clinvar/129746 ^@ NM_004543.4(NEB):c.5370G>A (p.Glu1790=) http://identifiers.org/clinvar/129747 ^@ NM_004543.4(NEB):c.5567G>A (p.Arg1856Gln) http://identifiers.org/clinvar/129748 ^@ NM_004543.4(NEB):c.571G>C (p.Glu191Gln) http://identifiers.org/clinvar/129749 ^@ NM_004543.4(NEB):c.5724C>T (p.Ser1908=) http://identifiers.org/clinvar/129750 ^@ NM_004543.4(NEB):c.5763+4C>T http://identifiers.org/clinvar/129751 ^@ NM_004543.4(NEB):c.5772C>T (p.Tyr1924=) http://identifiers.org/clinvar/129752 ^@ NM_004543.4(NEB):c.5971C>T (p.His1991Tyr) http://identifiers.org/clinvar/129753 ^@ NM_004543.4(NEB):c.612+8T>C http://identifiers.org/clinvar/129754 ^@ NM_004543.4(NEB):c.6159G>A (p.Lys2053=) http://identifiers.org/clinvar/129755 ^@ NM_004543.4(NEB):c.6717T>G (p.Ile2239Met) http://identifiers.org/clinvar/129756 ^@ NM_004543.4(NEB):c.6807+6T>G http://identifiers.org/clinvar/129757 ^@ NM_004543.4(NEB):c.8189A>G (p.Asp2730Gly) http://identifiers.org/clinvar/129758 ^@ NM_004543.4(NEB):c.8318G>A (p.Arg2773Gln) http://identifiers.org/clinvar/129759 ^@ NM_004543.4(NEB):c.8466C>T (p.His2822=) http://identifiers.org/clinvar/129760 ^@ NM_004543.4(NEB):c.8592T>C (p.Asp2864=) http://identifiers.org/clinvar/129761 ^@ NM_004543.4(NEB):c.8734T>C (p.Ser2912Pro) http://identifiers.org/clinvar/129762 ^@ NM_004543.4(NEB):c.9978G>A (p.Lys3326=) http://identifiers.org/clinvar/129763 ^@ NM_002500.4(NEUROD1):c.590C>A (p.Pro197His) http://identifiers.org/clinvar/129764 ^@ NM_020999.3(NEUROG3):c.499G>A (p.Gly167Arg) http://identifiers.org/clinvar/129765 ^@ NM_020999.3(NEUROG3):c.596T>C (p.Phe199Ser) http://identifiers.org/clinvar/129766 ^@ NM_198586.2(NHLRC1):c.312T>C (p.His104=) http://identifiers.org/clinvar/129767 ^@ NM_198586.2(NHLRC1):c.332C>T (p.Pro111Leu) http://identifiers.org/clinvar/129768 ^@ NM_198586.2(NHLRC1):c.973G>A (p.Val325Met) http://identifiers.org/clinvar/129769 ^@ NM_198270.3(NHS):c.2530G>A (p.Ala844Thr) http://identifiers.org/clinvar/129770 ^@ NM_198270.3(NHS):c.332_334delCGG (p.Ala117del) http://identifiers.org/clinvar/129771 ^@ NM_198270.3(NHS):c.342_350delGGCGGCGGC (p.Ala115_Ala117del) http://identifiers.org/clinvar/129772 ^@ NM_198270.3(NHS):c.1984G>A (p.Val662Met) http://identifiers.org/clinvar/129773 ^@ NM_198270.3(NHS):c.2768A>T (p.His923Leu) http://identifiers.org/clinvar/129774 ^@ NM_198270.3(NHS):c.3138T>C (p.Ser1046=) http://identifiers.org/clinvar/129775 ^@ NM_198270.3(NHS):c.3141A>G (p.Leu1047=) http://identifiers.org/clinvar/129776 ^@ NM_198270.3(NHS):c.3955T>C (p.Phe1319Leu) http://identifiers.org/clinvar/129777 ^@ NM_198270.3(NHS):c.4769G>C (p.Ser1590Thr) http://identifiers.org/clinvar/129778 ^@ NM_198270.3(NHS):c.766C>G (p.Leu256Val) http://identifiers.org/clinvar/129779 ^@ NM_020921.3(NIN):c.1128T>C (p.Val376=) http://identifiers.org/clinvar/129780 ^@ NM_020921.3(NIN):c.1728G>A (p.Pro576=) http://identifiers.org/clinvar/129781 ^@ NM_020921.3(NIN):c.1974T>C (p.His658=) http://identifiers.org/clinvar/129782 ^@ NM_020921.3(NIN):c.2616C>A (p.Ala872=) http://identifiers.org/clinvar/129783 ^@ NM_020921.3(NIN):c.264A>T (p.Pro88=) http://identifiers.org/clinvar/129784 ^@ NM_020921.3(NIN):c.2651A>G (p.Lys884Arg) http://identifiers.org/clinvar/129785 ^@ NM_020921.3(NIN):c.2676G>A (p.Gln892=) http://identifiers.org/clinvar/129786 ^@ NM_020921.3(NIN):c.3090A>T (p.Ser1030=) http://identifiers.org/clinvar/129787 ^@ NM_020921.3(NIN):c.3331C>G (p.Pro1111Ala) http://identifiers.org/clinvar/129788 ^@ NM_020921.3(NIN):c.3454G>T (p.Val1152Phe) http://identifiers.org/clinvar/129789 ^@ NM_020921.3(NIN):c.3459G>A (p.Arg1153=) http://identifiers.org/clinvar/129790 ^@ NM_020921.3(NIN):c.4674G>A (p.Thr1558=) http://identifiers.org/clinvar/129791 ^@ NM_020921.3(NIN):c.4837C>T (p.Arg1613Cys) http://identifiers.org/clinvar/129792 ^@ NM_020921.3(NIN):c.4866A>C (p.Glu1622Asp) http://identifiers.org/clinvar/129793 ^@ NM_020921.3(NIN):c.4937G>A (p.Arg1646His) http://identifiers.org/clinvar/129794 ^@ NM_020921.3(NIN):c.5075G>A (p.Cys1692Tyr) http://identifiers.org/clinvar/129795 ^@ NM_020921.3(NIN):c.5509T>A (p.Ser1837Thr) http://identifiers.org/clinvar/129796 ^@ NM_020921.3(NIN):c.5628+5T>C http://identifiers.org/clinvar/129797 ^@ NM_020921.3(NIN):c.5637G>A (p.Gln1879=) http://identifiers.org/clinvar/129798 ^@ NM_020921.3(NIN):c.5800C>G (p.Gln1934Glu) http://identifiers.org/clinvar/129799 ^@ NM_020921.3(NIN):c.5903C>T (p.Thr1968Met) http://identifiers.org/clinvar/129800 ^@ NM_020921.3(NIN):c.600T>C (p.Gly200=) http://identifiers.org/clinvar/129801 ^@ NM_020921.3(NIN):c.6068A>G (p.Asn2023Ser) http://identifiers.org/clinvar/129802 ^@ NM_020921.3(NIN):c.819C>T (p.Phe273=) http://identifiers.org/clinvar/129803 ^@ NM_020921.3(NIN):c.933G>C (p.Leu311=) http://identifiers.org/clinvar/129804 ^@ NM_144599.4(NIPA1):c.441A>G (p.Thr147=) http://identifiers.org/clinvar/129805 ^@ NM_020742.3(NLGN4X):c.54C>T (p.Cys18=) http://identifiers.org/clinvar/129806 ^@ NM_006392.3(NOP56):c.1035T>C (p.Thr345=) http://identifiers.org/clinvar/129807 ^@ NM_006392.3(NOP56):c.105T>C (p.Ser35=) http://identifiers.org/clinvar/129808 ^@ NM_006392.3(NOP56):c.1424T>C (p.Met475Thr) http://identifiers.org/clinvar/129809 ^@ NM_006392.3(NOP56):c.1727T>C (p.Val576Ala) http://identifiers.org/clinvar/129810 ^@ NM_006392.3(NOP56):c.361A>G (p.Ile121Val) http://identifiers.org/clinvar/129811 ^@ NM_000271.4(NPC1):c.387T>C (p.Tyr129=) http://identifiers.org/clinvar/129812 ^@ NM_000272.3(NPHP1):c.793A>T (p.Asn265Tyr) http://identifiers.org/clinvar/129813 ^@ NM_000272.3(NPHP1):c.115C>A (p.Pro39Thr) http://identifiers.org/clinvar/129814 ^@ NM_000272.3(NPHP1):c.14G>T (p.Arg5Leu) http://identifiers.org/clinvar/129815 ^@ NM_000272.3(NPHP1):c.810C>T (p.Cys270=) http://identifiers.org/clinvar/129816 ^@ NM_001135659.2(NRXN1):c.2078G>A (p.Ser693Asn) http://identifiers.org/clinvar/129817 ^@ NM_001135659.2(NRXN1):c.790C>A (p.Gln264Lys) http://identifiers.org/clinvar/129818 ^@ NM_001135659.2(NRXN1):c.1278+5A>T http://identifiers.org/clinvar/129819 ^@ NM_001135659.2(NRXN1):c.3339C>T (p.Asn1113=) http://identifiers.org/clinvar/129820 ^@ NM_001135659.2(NRXN1):c.3369C>T (p.Pro1123=) http://identifiers.org/clinvar/129821 ^@ NM_001135659.2(NRXN1):c.3464G>A (p.Ser1155Asn) http://identifiers.org/clinvar/129822 ^@ NM_001135659.2(NRXN1):c.3528G>A (p.Thr1176=) http://identifiers.org/clinvar/129823 ^@ NM_001135659.2(NRXN1):c.4188G>A (p.Thr1396=) http://identifiers.org/clinvar/129824 ^@ NM_001135659.2(NRXN1):c.4374A>G (p.Pro1458=) http://identifiers.org/clinvar/129825 ^@ NM_001135659.2(NRXN1):c.871+9G>A http://identifiers.org/clinvar/129826 ^@ NM_001135659.2(NRXN1):c.876C>T (p.Asp292=) http://identifiers.org/clinvar/129827 ^@ NM_001135659.2(NRXN1):c.999C>T (p.Pro333=) http://identifiers.org/clinvar/129828 ^@ NM_138732.2(NRXN2):c.1018G>A (p.Val340Ile) http://identifiers.org/clinvar/129829 ^@ NM_138732.2(NRXN2):c.1067G>A (p.Arg356Gln) http://identifiers.org/clinvar/129830 ^@ NM_138732.2(NRXN2):c.1471C>T (p.Arg491Cys) http://identifiers.org/clinvar/129831 ^@ NM_138732.2(NRXN2):c.242T>A (p.Leu81Gln) http://identifiers.org/clinvar/129832 ^@ NM_138732.2(NRXN2):c.246G>A (p.Leu82=) http://identifiers.org/clinvar/129833 ^@ NM_138732.2(NRXN2):c.2625C>T (p.Ile875=) http://identifiers.org/clinvar/129834 ^@ NM_138732.2(NRXN2):c.3013A>G (p.Ser1005Gly) http://identifiers.org/clinvar/129835 ^@ NM_138732.2(NRXN2):c.3207C>T (p.Gly1069=) http://identifiers.org/clinvar/129836 ^@ NM_138732.2(NRXN2):c.3641G>T (p.Arg1214Leu) http://identifiers.org/clinvar/129837 ^@ NM_138732.2(NRXN2):c.531C>T (p.Gly177=) http://identifiers.org/clinvar/129838 ^@ NM_017755.5(NSUN2):c.1749G>A (p.Thr583=) http://identifiers.org/clinvar/129839 ^@ NM_017755.5(NSUN2):c.2193C>T (p.Asp731=) http://identifiers.org/clinvar/129840 ^@ NM_017755.5(NSUN2):c.21T>C (p.Gly7=) http://identifiers.org/clinvar/129841 ^@ NM_017755.5(NSUN2):c.2279C>A (p.Pro760Gln) http://identifiers.org/clinvar/129842 ^@ NM_017755.5(NSUN2):c.51G>A (p.Glu17=) http://identifiers.org/clinvar/129843 ^@ NM_017755.5(NSUN2):c.529C>T (p.His177Tyr) http://identifiers.org/clinvar/129844 ^@ NM_017755.5(NSUN2):c.622+7A>T http://identifiers.org/clinvar/129845 ^@ NM_017755.5(NSUN2):c.97-6C>T http://identifiers.org/clinvar/129846 ^@ NM_153719.3(NUP62):c.1323T>C (p.Asp441=) http://identifiers.org/clinvar/129847 ^@ NM_153719.3(NUP62):c.549G>A (p.Thr183=) http://identifiers.org/clinvar/129848 ^@ NM_153719.3(NUP62):c.648C>T (p.Ser216=) http://identifiers.org/clinvar/129849 ^@ NM_153719.3(NUP62):c.848G>C (p.Ser283Thr) http://identifiers.org/clinvar/129850 ^@ NM_000276.3(OCRL):c.41C>T (p.Thr14Ile) http://identifiers.org/clinvar/129851 ^@ NM_000276.3(OCRL):c.897G>A (p.Met299Ile) http://identifiers.org/clinvar/129852 ^@ NM_004153.3(ORC1):c.1581A>G (p.Gly527=) http://identifiers.org/clinvar/129853 ^@ NM_004153.3(ORC1):c.308T>C (p.Leu103Ser) http://identifiers.org/clinvar/129854 ^@ NM_004153.3(ORC1):c.1115C>T (p.Ala372Val) http://identifiers.org/clinvar/129855 ^@ NM_004153.3(ORC1):c.1239A>C (p.Ala413=) http://identifiers.org/clinvar/129856 ^@ NM_004153.3(ORC1):c.1397C>T (p.Thr466Met) http://identifiers.org/clinvar/129857 ^@ NM_004153.3(ORC1):c.1406G>A (p.Cys469Tyr) http://identifiers.org/clinvar/129858 ^@ NM_004153.3(ORC1):c.2405A>G (p.His802Arg) http://identifiers.org/clinvar/129859 ^@ NM_004153.3(ORC1):c.2427G>A (p.Glu809=) http://identifiers.org/clinvar/129860 ^@ NM_004153.3(ORC1):c.2447T>C (p.Met816Thr) http://identifiers.org/clinvar/129861 ^@ NM_004153.3(ORC1):c.2518G>A (p.Asp840Asn) http://identifiers.org/clinvar/129862 ^@ NM_004153.3(ORC1):c.400C>T (p.Arg134Trp) http://identifiers.org/clinvar/129863 ^@ NM_004153.3(ORC1):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/129864 ^@ NM_004153.3(ORC1):c.806C>T (p.Ser269Leu) http://identifiers.org/clinvar/129865 ^@ NM_014321.3(ORC6):c.207T>G (p.Ile69Met) http://identifiers.org/clinvar/129866 ^@ NM_014321.3(ORC6):c.675T>C (p.Asp225=) http://identifiers.org/clinvar/129867 ^@ NM_000531.5(OTC):c.809A>G (p.Gln270Arg) http://identifiers.org/clinvar/129868 ^@ NM_018026.3(PACS1):c.102G>A (p.Pro34=) http://identifiers.org/clinvar/129869 ^@ NM_018026.3(PACS1):c.1993+8C>T http://identifiers.org/clinvar/129870 ^@ NM_018026.3(PACS1):c.2061T>A (p.Ser687=) http://identifiers.org/clinvar/129871 ^@ NM_018026.3(PACS1):c.2293+6G>C http://identifiers.org/clinvar/129872 ^@ NM_018026.3(PACS1):c.2777-3T>C http://identifiers.org/clinvar/129873 ^@ NM_002578.4(PAK3):c.1185C>T (p.Leu395=) http://identifiers.org/clinvar/129874 ^@ NM_006193.2(PAX4):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/129875 ^@ NM_006193.2(PAX4):c.575G>A (p.Arg192His) http://identifiers.org/clinvar/129876 ^@ NM_006193.2(PAX4):c.450C>T (p.Gly150=) http://identifiers.org/clinvar/129877 ^@ NM_006193.2(PAX4):c.519A>G (p.Gln173=) http://identifiers.org/clinvar/129878 ^@ NM_006193.2(PAX4):c.962A>C (p.His321Pro) http://identifiers.org/clinvar/129879 ^@ NM_000920.3(PC):c.1513+9C>A http://identifiers.org/clinvar/129880 ^@ NM_000925.3(PDHB):c.438G>A (p.Gly146=) http://identifiers.org/clinvar/129881 ^@ NM_000209.3(PDX1):c.716C>A (p.Pro239Gln) http://identifiers.org/clinvar/129882 ^@ NM_000466.2(PEX1):c.2088A>G (p.Ile696Met) http://identifiers.org/clinvar/129883 ^@ NM_153818.1(PEX10):c.279C>T (p.Gly93=) http://identifiers.org/clinvar/129884 ^@ NM_153818.1(PEX10):c.291A>G (p.Thr97=) http://identifiers.org/clinvar/129885 ^@ NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) http://identifiers.org/clinvar/129886 ^@ NM_032458.2(PHF6):c.729+4A>G http://identifiers.org/clinvar/129887 ^@ NM_032458.2(PHF6):c.927C>T (p.Asp309=) http://identifiers.org/clinvar/129888 ^@ NM_015107.2(PHF8):c.606C>T (p.Asn202=) http://identifiers.org/clinvar/129889 ^@ NM_015107.2(PHF8):c.1586G>A (p.Ser529Asn) http://identifiers.org/clinvar/129890 ^@ NM_015107.2(PHF8):c.441T>G (p.Val147=) http://identifiers.org/clinvar/129891 ^@ NM_006214.3(PHYH):c.153C>T (p.Asn51=) http://identifiers.org/clinvar/129892 ^@ NM_001142633.2(PIK3R5):c.1011C>T (p.Asp337=) http://identifiers.org/clinvar/129893 ^@ NM_001142633.2(PIK3R5):c.1075T>C (p.Leu359=) http://identifiers.org/clinvar/129894 ^@ NM_001142633.2(PIK3R5):c.837C>T (p.His279=) http://identifiers.org/clinvar/129895 ^@ NM_001142633.2(PIK3R5):c.933A>G (p.Leu311=) http://identifiers.org/clinvar/129896 ^@ NM_015192.3(PLCB1):c.2235G>A (p.Leu745=) http://identifiers.org/clinvar/129897 ^@ NM_015192.3(PLCB1):c.3348G>A (p.Ala1116=) http://identifiers.org/clinvar/129898 ^@ NM_015192.3(PLCB1):c.458A>T (p.Glu153Val) http://identifiers.org/clinvar/129899 ^@ NM_015192.3(PLCB1):c.102C>T (p.Asp34=) http://identifiers.org/clinvar/129900 ^@ NM_015192.3(PLCB1):c.1167+7T>C http://identifiers.org/clinvar/129901 ^@ NM_015192.3(PLCB1):c.1251-4T>G http://identifiers.org/clinvar/129902 ^@ NM_015192.3(PLCB1):c.1469A>G (p.Tyr490Cys) http://identifiers.org/clinvar/129903 ^@ NM_015192.3(PLCB1):c.2082G>A (p.Gly694=) http://identifiers.org/clinvar/129904 ^@ NM_015192.3(PLCB1):c.2191C>G (p.Pro731Ala) http://identifiers.org/clinvar/129905 ^@ NM_015192.3(PLCB1):c.2199G>A (p.Val733=) http://identifiers.org/clinvar/129906 ^@ NM_015192.3(PLCB1):c.21A>C (p.Gly7=) http://identifiers.org/clinvar/129907 ^@ NM_015192.3(PLCB1):c.2413+9C>T http://identifiers.org/clinvar/129908 ^@ NM_015192.3(PLCB1):c.2565G>A (p.Ala855=) http://identifiers.org/clinvar/129909 ^@ NM_015192.3(PLCB1):c.2967G>A (p.Thr989=) http://identifiers.org/clinvar/129910 ^@ NM_015192.3(PLCB1):c.2988T>C (p.Ala996=) http://identifiers.org/clinvar/129911 ^@ NM_015192.3(PLCB1):c.3120A>G (p.Gln1040=) http://identifiers.org/clinvar/129912 ^@ NM_015192.3(PLCB1):c.3188+8C>T http://identifiers.org/clinvar/129913 ^@ NM_015192.3(PLCB1):c.3202T>C (p.Leu1068=) http://identifiers.org/clinvar/129914 ^@ NM_015192.3(PLCB1):c.3337C>T (p.Leu1113=) http://identifiers.org/clinvar/129915 ^@ NM_015192.3(PLCB1):c.582T>C (p.Leu194=) http://identifiers.org/clinvar/129916 ^@ NM_015192.3(PLCB1):c.924A>G (p.Ser308=) http://identifiers.org/clinvar/129917 ^@ NM_015192.3(PLCB1):c.99+8T>C http://identifiers.org/clinvar/129918 ^@ NM_000445.4(PLEC):c.10042G>A (p.Gly3348Arg) http://identifiers.org/clinvar/129919 ^@ NM_000445.4(PLEC):c.10047C>T (p.Val3349=) http://identifiers.org/clinvar/129920 ^@ NM_000445.4(PLEC):c.10095C>T (p.Val3365=) http://identifiers.org/clinvar/129921 ^@ NM_000445.4(PLEC):c.10127C>T (p.Thr3376Met) http://identifiers.org/clinvar/129922 ^@ NM_000445.4(PLEC):c.10139G>C (p.Gly3380Ala) http://identifiers.org/clinvar/129923 ^@ NM_000445.4(PLEC):c.11001C>T (p.Tyr3667=) http://identifiers.org/clinvar/129924 ^@ NM_000445.4(PLEC):c.11067C>T (p.Thr3689=) http://identifiers.org/clinvar/129925 ^@ NM_000445.4(PLEC):c.11170C>T (p.Leu3724=) http://identifiers.org/clinvar/129926 ^@ NM_000445.4(PLEC):c.11680G>C (p.Asp3894His) http://identifiers.org/clinvar/129927 ^@ NM_000445.4(PLEC):c.11682C>T (p.Asp3894=) http://identifiers.org/clinvar/129928 ^@ NM_000445.4(PLEC):c.1176T>C (p.Asp392=) http://identifiers.org/clinvar/129929 ^@ NM_000445.4(PLEC):c.11994G>A (p.Ala3998=) http://identifiers.org/clinvar/129930 ^@ NM_000445.4(PLEC):c.12696C>T (p.Ile4232=) http://identifiers.org/clinvar/129931 ^@ NM_000445.4(PLEC):c.13286C>T (p.Thr4429Met) http://identifiers.org/clinvar/129932 ^@ NM_000445.4(PLEC):c.133G>A (p.Gly45Ser) http://identifiers.org/clinvar/129933 ^@ NM_000445.4(PLEC):c.1455C>T (p.Thr485=) http://identifiers.org/clinvar/129934 ^@ NM_000445.4(PLEC):c.1592C>T (p.Ala531Val) http://identifiers.org/clinvar/129935 ^@ NM_000445.4(PLEC):c.1787G>A (p.Arg596Gln) http://identifiers.org/clinvar/129936 ^@ NM_000445.4(PLEC):c.1833C>T (p.Pro611=) http://identifiers.org/clinvar/129937 ^@ NM_000445.4(PLEC):c.2298G>A (p.Gln766=) http://identifiers.org/clinvar/129938 ^@ NM_000445.4(PLEC):c.2538+6C>T http://identifiers.org/clinvar/129939 ^@ NM_000445.4(PLEC):c.2629G>A (p.Ala877Thr) http://identifiers.org/clinvar/129940 ^@ NM_000445.4(PLEC):c.2694-7C>A http://identifiers.org/clinvar/129941 ^@ NM_000445.4(PLEC):c.2739G>A (p.Leu913=) http://identifiers.org/clinvar/129942 ^@ NM_000445.4(PLEC):c.2913C>T (p.Gly971=) http://identifiers.org/clinvar/129943 ^@ NM_000445.4(PLEC):c.3273C>T (p.Arg1091=) http://identifiers.org/clinvar/129944 ^@ NM_000445.4(PLEC):c.3798C>T (p.Ala1266=) http://identifiers.org/clinvar/129945 ^@ NM_000445.4(PLEC):c.3814C>A (p.Arg1272=) http://identifiers.org/clinvar/129946 ^@ NM_000445.4(PLEC):c.3964C>T (p.Pro1322Ser) http://identifiers.org/clinvar/129947 ^@ NM_000445.4(PLEC):c.4046A>G (p.His1349Arg) http://identifiers.org/clinvar/129948 ^@ NM_000445.4(PLEC):c.4304C>T (p.Ala1435Val) http://identifiers.org/clinvar/129949 ^@ NM_000445.4(PLEC):c.459T>C (p.Ala153=) http://identifiers.org/clinvar/129950 ^@ NM_000445.4(PLEC):c.4716G>A (p.Ala1572=) http://identifiers.org/clinvar/129951 ^@ NM_000445.4(PLEC):c.6822C>T (p.Ile2274=) http://identifiers.org/clinvar/129952 ^@ NM_000445.4(PLEC):c.7191C>T (p.Ala2397=) http://identifiers.org/clinvar/129953 ^@ NM_000445.4(PLEC):c.7341G>A (p.Thr2447=) http://identifiers.org/clinvar/129954 ^@ NM_000445.4(PLEC):c.7347C>T (p.Leu2449=) http://identifiers.org/clinvar/129955 ^@ NM_000445.4(PLEC):c.7807C>T (p.Leu2603=) http://identifiers.org/clinvar/129956 ^@ NM_000445.4(PLEC):c.8093G>A (p.Arg2698Gln) http://identifiers.org/clinvar/129957 ^@ NM_000445.4(PLEC):c.8106C>T (p.Gly2702=) http://identifiers.org/clinvar/129958 ^@ NM_000445.4(PLEC):c.8131C>T (p.Arg2711Trp) http://identifiers.org/clinvar/129959 ^@ NM_000445.4(PLEC):c.8400C>T (p.Ala2800=) http://identifiers.org/clinvar/129960 ^@ NM_000445.4(PLEC):c.8901C>G (p.Asp2967Glu) http://identifiers.org/clinvar/129961 ^@ NM_000445.4(PLEC):c.9504C>T (p.Gly3168=) http://identifiers.org/clinvar/129962 ^@ NM_000445.4(PLEC):c.9516C>T (p.Asp3172=) http://identifiers.org/clinvar/129963 ^@ NM_000445.4(PLEC):c.968G>A (p.Arg323Gln) http://identifiers.org/clinvar/129964 ^@ NM_001129727.2(PLEKHG4):c.1235C>T (p.Thr412Ile) http://identifiers.org/clinvar/129965 ^@ NM_001129727.2(PLEKHG4):c.1574A>G (p.Asp525Gly) http://identifiers.org/clinvar/129966 ^@ NM_001129727.2(PLEKHG4):c.2489G>A (p.Arg830His) http://identifiers.org/clinvar/129967 ^@ NM_002666.4(PLIN1):c.1139C>T (p.Ala380Val) http://identifiers.org/clinvar/129968 ^@ NM_002666.4(PLIN1):c.771+6T>C http://identifiers.org/clinvar/129969 ^@ NM_002666.4(PLIN1):c.1043C>T (p.Ser348Leu) http://identifiers.org/clinvar/129970 ^@ NM_002666.4(PLIN1):c.1113T>C (p.Pro371=) http://identifiers.org/clinvar/129971 ^@ NM_002666.4(PLIN1):c.1119C>T (p.Val373=) http://identifiers.org/clinvar/129972 ^@ NM_002666.4(PLIN1):c.1248C>T (p.Phe416=) http://identifiers.org/clinvar/129973 ^@ NM_002666.4(PLIN1):c.580C>G (p.Pro194Ala) http://identifiers.org/clinvar/129974 ^@ NM_002666.4(PLIN1):c.812C>T (p.Ala271Val) http://identifiers.org/clinvar/129975 ^@ NM_000533.4(PLP1):c.168A>G (p.Gln56=) http://identifiers.org/clinvar/129976 ^@ NM_000303.2(PMM2):c.324G>A (p.Ala108=) http://identifiers.org/clinvar/129977 ^@ NM_006702.4(PNPLA6):c.1090G>C (p.Ala364Pro) http://identifiers.org/clinvar/129978 ^@ NM_006702.4(PNPLA6):c.1977G>A (p.Pro659=) http://identifiers.org/clinvar/129979 ^@ NM_006702.4(PNPLA6):c.648C>T (p.Asn216=) http://identifiers.org/clinvar/129980 ^@ NM_018129.3(PNPO):c.165C>T (p.Ser55=) http://identifiers.org/clinvar/129981 ^@ NM_018129.3(PNPO):c.347G>A (p.Arg116Gln) http://identifiers.org/clinvar/129982 ^@ NM_018129.3(PNPO):c.486C>G (p.Pro162=) http://identifiers.org/clinvar/129983 ^@ NM_018129.3(PNPO):c.552G>A (p.Leu184=) http://identifiers.org/clinvar/129984 ^@ NM_015426.4(POC1A):c.1044G>T (p.Gln348His) http://identifiers.org/clinvar/129985 ^@ NM_015426.4(POC1A):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/129986 ^@ NM_015426.4(POC1A):c.18+10G>A http://identifiers.org/clinvar/129987 ^@ NM_015426.4(POC1A):c.915T>G (p.Val305=) http://identifiers.org/clinvar/129988 ^@ NM_002693.2(POLG):c.1235C>T (p.Pro412Leu) http://identifiers.org/clinvar/129989 ^@ NM_002693.2(POLG):c.128A>G (p.Gln43Arg) http://identifiers.org/clinvar/129990 ^@ NM_002693.2(POLG):c.2109C>A (p.Ala703=) http://identifiers.org/clinvar/129991 ^@ NM_002693.2(POLG):c.2254C>T (p.Leu752=) http://identifiers.org/clinvar/129992 ^@ NM_002693.2(POLG):c.264C>T (p.Phe88=) http://identifiers.org/clinvar/129993 ^@ NM_002693.2(POLG):c.2958C>T (p.Tyr986=) http://identifiers.org/clinvar/129994 ^@ NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) http://identifiers.org/clinvar/129995 ^@ NM_002693.2(POLG):c.3293A>C (p.Asn1098Thr) http://identifiers.org/clinvar/129996 ^@ NM_002693.2(POLG):c.3482+7G>A http://identifiers.org/clinvar/129997 ^@ NM_002693.2(POLG):c.3561G>C (p.Arg1187=) http://identifiers.org/clinvar/129998 ^@ NM_002693.2(POLG):c.3644-9A>G http://identifiers.org/clinvar/129999 ^@ NM_002693.2(POLG):c.948G>A (p.Lys316=) http://identifiers.org/clinvar/130000 ^@ NM_007055.3(POLR3A):c.1745G>T (p.Arg582Leu) http://identifiers.org/clinvar/130001 ^@ NM_018082.5(POLR3B):c.2055T>C (p.Tyr685=) http://identifiers.org/clinvar/130002 ^@ NM_018082.5(POLR3B):c.2218A>G (p.Thr740Ala) http://identifiers.org/clinvar/130003 ^@ NM_018082.5(POLR3B):c.3396T>C (p.Asn1132=) http://identifiers.org/clinvar/130004 ^@ NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) http://identifiers.org/clinvar/130005 ^@ NM_007171.3(POMT1):c.1191C>T (p.His397=) http://identifiers.org/clinvar/130006 ^@ NM_007171.3(POMT1):c.1341A>G (p.Glu447=) http://identifiers.org/clinvar/130007 ^@ NM_007171.3(POMT1):c.1545C>T (p.Tyr515=) http://identifiers.org/clinvar/130008 ^@ NM_007171.3(POMT1):c.1758G>A (p.Arg586=) http://identifiers.org/clinvar/130009 ^@ NM_007171.3(POMT1):c.1892-6C>A http://identifiers.org/clinvar/130010 ^@ NM_007171.3(POMT1):c.1892-7C>A http://identifiers.org/clinvar/130011 ^@ NM_007171.3(POMT1):c.1922C>T (p.Ala641Val) http://identifiers.org/clinvar/130012 ^@ NM_007171.3(POMT1):c.2234G>A (p.Arg745Gln) http://identifiers.org/clinvar/130013 ^@ NM_007171.3(POMT1):c.78G>A (p.Gly26=) http://identifiers.org/clinvar/130014 ^@ NM_013382.5(POMT2):c.1911G>T (p.Leu637=) http://identifiers.org/clinvar/130015 ^@ NM_013382.5(POMT2):c.1006+5G>A http://identifiers.org/clinvar/130016 ^@ NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) http://identifiers.org/clinvar/130017 ^@ NM_013382.5(POMT2):c.881A>G (p.Tyr294Cys) http://identifiers.org/clinvar/130018 ^@ NM_015869.4(PPARG):c.1348A>C (p.Lys450Gln) http://identifiers.org/clinvar/130019 ^@ NM_015869.4(PPARG):c.34C>G (p.Pro12Ala) http://identifiers.org/clinvar/130020 ^@ NM_000310.3(PPT1):c.229A>G (p.Met77Val) http://identifiers.org/clinvar/130021 ^@ NM_000310.3(PPT1):c.363-4G>A http://identifiers.org/clinvar/130022 ^@ NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) http://identifiers.org/clinvar/130023 ^@ NM_000310.3(PPT1):c.837G>C (p.Gln279His) http://identifiers.org/clinvar/130024 ^@ NM_153026.2(PRICKLE1):c.1899T>C (p.Phe633=) http://identifiers.org/clinvar/130025 ^@ NM_153026.2(PRICKLE1):c.2071A>G (p.Thr691Ala) http://identifiers.org/clinvar/130026 ^@ NM_153026.2(PRICKLE1):c.2236C>T (p.Pro746Ser) http://identifiers.org/clinvar/130027 ^@ NM_153026.2(PRICKLE1):c.370G>A (p.Ala124Thr) http://identifiers.org/clinvar/130028 ^@ NM_153026.2(PRICKLE1):c.374T>C (p.Val125Ala) http://identifiers.org/clinvar/130029 ^@ NM_153026.2(PRICKLE1):c.585C>T (p.Asp195=) http://identifiers.org/clinvar/130030 ^@ NM_153026.2(PRICKLE1):c.744G>A (p.Ala248=) http://identifiers.org/clinvar/130031 ^@ NM_198859.3(PRICKLE2):c.144+10T>C http://identifiers.org/clinvar/130032 ^@ NM_198859.3(PRICKLE2):c.1551G>A (p.Gln517=) http://identifiers.org/clinvar/130033 ^@ NM_198859.3(PRICKLE2):c.259-6A>G http://identifiers.org/clinvar/130034 ^@ NM_198859.3(PRICKLE2):c.579G>A (p.Pro193=) http://identifiers.org/clinvar/130035 ^@ NM_198859.3(PRICKLE2):c.984C>T (p.Asn328=) http://identifiers.org/clinvar/130036 ^@ NM_002739.4(PRKCG):c.567T>C (p.Asn189=) http://identifiers.org/clinvar/130037 ^@ NM_002739.4(PRKCG):c.72C>T (p.Ala24=) http://identifiers.org/clinvar/130038 ^@ NM_145239.2(PRRT2):c.412C>G (p.Pro138Ala) http://identifiers.org/clinvar/130039 ^@ NM_145239.2(PRRT2):c.67G>A (p.Glu23Lys) http://identifiers.org/clinvar/130040 ^@ NM_003619.3(PRSS12):c.1272T>G (p.Val424=) http://identifiers.org/clinvar/130041 ^@ NM_003619.3(PRSS12):c.1281A>G (p.Gln427=) http://identifiers.org/clinvar/130042 ^@ NM_003619.3(PRSS12):c.164G>C (p.Arg55Thr) http://identifiers.org/clinvar/130043 ^@ NM_003619.3(PRSS12):c.1816G>T (p.Ala606Ser) http://identifiers.org/clinvar/130044 ^@ NM_003619.3(PRSS12):c.19G>A (p.Val7Met) http://identifiers.org/clinvar/130045 ^@ NM_003619.3(PRSS12):c.2324G>A (p.Arg775Gln) http://identifiers.org/clinvar/130046 ^@ NM_003619.3(PRSS12):c.2389C>T (p.Arg797Cys) http://identifiers.org/clinvar/130047 ^@ NM_003619.3(PRSS12):c.2498G>A (p.Arg833Gln) http://identifiers.org/clinvar/130048 ^@ NM_181882.2(PRX):c.2645T>C (p.Val882Ala) http://identifiers.org/clinvar/130049 ^@ NM_181882.2(PRX):c.2655T>C (p.Pro885=) http://identifiers.org/clinvar/130050 ^@ NM_181882.2(PRX):c.2763A>G (p.Ile921Met) http://identifiers.org/clinvar/130051 ^@ NM_181882.2(PRX):c.306C>T (p.Thr102=) http://identifiers.org/clinvar/130052 ^@ NM_181882.2(PRX):c.3248C>G (p.Pro1083Arg) http://identifiers.org/clinvar/130053 ^@ NM_181882.2(PRX):c.3394G>A (p.Gly1132Arg) http://identifiers.org/clinvar/130054 ^@ NM_178161.2(PTF1A):c.269G>C (p.Gly90Ala) http://identifiers.org/clinvar/130055 ^@ NM_178161.2(PTF1A):c.787T>C (p.Ser263Pro) http://identifiers.org/clinvar/130056 ^@ NM_012232.5(CAVIN1):c.843G>A (p.Leu281=) http://identifiers.org/clinvar/130057 ^@ NM_012232.5(CAVIN1):c.927G>A (p.Ala309=) http://identifiers.org/clinvar/130058 ^@ NM_021252.4(RAB18):c.264T>C (p.Tyr88=) http://identifiers.org/clinvar/130059 ^@ NM_021252.4(RAB18):c.592G>A (p.Ala198Thr) http://identifiers.org/clinvar/130060 ^@ NM_012233.2(RAB3GAP1):c.-53C>G http://identifiers.org/clinvar/130061 ^@ NM_012233.2(RAB3GAP1):c.1041A>G (p.Arg347=) http://identifiers.org/clinvar/130062 ^@ NM_012233.2(RAB3GAP1):c.1226C>T (p.Thr409Ile) http://identifiers.org/clinvar/130063 ^@ NM_012233.2(RAB3GAP1):c.1325A>G (p.Tyr442Cys) http://identifiers.org/clinvar/130064 ^@ NM_012233.2(RAB3GAP1):c.1793A>G (p.Asn598Ser) http://identifiers.org/clinvar/130065 ^@ NM_012233.2(RAB3GAP1):c.1992G>A (p.Ser664=) http://identifiers.org/clinvar/130066 ^@ NM_012233.2(RAB3GAP1):c.2007C>A (p.His669Gln) http://identifiers.org/clinvar/130067 ^@ NM_012233.2(RAB3GAP1):c.2265T>C (p.Phe755=) http://identifiers.org/clinvar/130068 ^@ NM_012233.2(RAB3GAP1):c.2463C>T (p.Phe821=) http://identifiers.org/clinvar/130069 ^@ NM_012233.2(RAB3GAP1):c.2904T>C (p.Phe968=) http://identifiers.org/clinvar/130070 ^@ NM_012233.2(RAB3GAP1):c.357A>G (p.Val119=) http://identifiers.org/clinvar/130071 ^@ NM_012233.2(RAB3GAP1):c.669G>T (p.Leu223Phe) http://identifiers.org/clinvar/130072 ^@ NM_012233.2(RAB3GAP1):c.913A>G (p.Ile305Val) http://identifiers.org/clinvar/130073 ^@ NM_012414.3(RAB3GAP2):c.774A>G (p.Leu258=) http://identifiers.org/clinvar/130074 ^@ NM_012414.3(RAB3GAP2):c.938C>T (p.Thr313Ile) http://identifiers.org/clinvar/130075 ^@ NM_012414.3(RAB3GAP2):c.1779+7G>A http://identifiers.org/clinvar/130076 ^@ NM_012414.3(RAB3GAP2):c.1792A>C (p.Ile598Leu) http://identifiers.org/clinvar/130077 ^@ NM_012414.3(RAB3GAP2):c.2088A>G (p.Thr696=) http://identifiers.org/clinvar/130078 ^@ NM_012414.3(RAB3GAP2):c.2587A>G (p.Thr863Ala) http://identifiers.org/clinvar/130079 ^@ NM_012414.3(RAB3GAP2):c.3275G>C (p.Ser1092Thr) http://identifiers.org/clinvar/130080 ^@ NM_012414.3(RAB3GAP2):c.3495G>A (p.Leu1165=) http://identifiers.org/clinvar/130081 ^@ NM_030665.3(RAI1):c.1925C>T (p.Ser642Leu) http://identifiers.org/clinvar/130083 ^@ NM_030665.3(RAI1):c.610C>T (p.Pro204Ser) http://identifiers.org/clinvar/130085 ^@ NM_030665.3(RAI1):c.836_837delAG (p.Gln279Profs) http://identifiers.org/clinvar/130086 ^@ NM_030665.3(RAI1):c.870_872dupGCA (p.Gln291_Ala292insGln) http://identifiers.org/clinvar/130087 ^@ NM_030665.3(RAI1):c.3791A>G (p.Glu1264Gly) http://identifiers.org/clinvar/130088 ^@ NM_030665.3(RAI1):c.861_872delGCAGCAGCAGCA (p.Gln288_Gln291del) http://identifiers.org/clinvar/130089 ^@ NM_005055.4(RAPSN):c.1143T>C (p.Pro381=) http://identifiers.org/clinvar/130090 ^@ NM_005055.4(RAPSN):c.172C>T (p.Arg58Cys) http://identifiers.org/clinvar/130091 ^@ NM_005055.4(RAPSN):c.456T>C (p.Tyr152=) http://identifiers.org/clinvar/130092 ^@ NM_005055.4(RAPSN):c.855G>A (p.Gln285=) http://identifiers.org/clinvar/130093 ^@ NM_020320.3:c.1-2A>G http://identifiers.org/clinvar/130094 ^@ NM_020320.4(RARS2):c.155A>T (p.Lys52Ile) http://identifiers.org/clinvar/130095 ^@ NM_020320.4(RARS2):c.1704A>G (p.Lys568=) http://identifiers.org/clinvar/130096 ^@ NM_020320.4(RARS2):c.606C>T (p.Leu202=) http://identifiers.org/clinvar/130097 ^@ NM_020320.4(RARS2):c.63A>G (p.Pro21=) http://identifiers.org/clinvar/130098 ^@ NM_020320.4(RARS2):c.703G>A (p.Val235Met) http://identifiers.org/clinvar/130099 ^@ NM_020320.4(RARS2):c.872A>G (p.Lys291Arg) http://identifiers.org/clinvar/130100 ^@ NM_020320.4(RARS2):c.991A>G (p.Ile331Val) http://identifiers.org/clinvar/130101 ^@ NM_002894.2(RBBP8):c.604+1G>T http://identifiers.org/clinvar/130102 ^@ NM_002894.2(RBBP8):c.1071A>C (p.Lys357Asn) http://identifiers.org/clinvar/130103 ^@ NM_002894.2(RBBP8):c.1367A>G (p.His456Arg) http://identifiers.org/clinvar/130104 ^@ NM_002894.2(RBBP8):c.1644T>C (p.Asp548=) http://identifiers.org/clinvar/130105 ^@ NM_002894.2(RBBP8):c.1766G>A (p.Arg589His) http://identifiers.org/clinvar/130106 ^@ NM_002894.2(RBBP8):c.1865G>A (p.Gly622Glu) http://identifiers.org/clinvar/130107 ^@ NM_002894.2(RBBP8):c.2115G>A (p.Lys705=) http://identifiers.org/clinvar/130108 ^@ NM_022912.2(REEP1):c.285G>A (p.Thr95=) http://identifiers.org/clinvar/130109 ^@ NM_005045.3(RELN):c.-6_-1dupGGCGGC http://identifiers.org/clinvar/130110 ^@ NM_005045.3(RELN):c.5193C>A (p.Tyr1731Ter) http://identifiers.org/clinvar/130111 ^@ NM_005045.3(RELN):c.5195_5208dupTTCCACTCTCCACC (p.Ile1737Phefs) http://identifiers.org/clinvar/130112 ^@ NM_005045.3(RELN):c.7490+1G>A http://identifiers.org/clinvar/130113 ^@ NM_005045.3(RELN):c.7909C>T (p.Arg2637Cys) http://identifiers.org/clinvar/130114 ^@ NM_005045.3(RELN):c.1377G>A (p.Arg459=) http://identifiers.org/clinvar/130115 ^@ NM_005045.3(RELN):c.1776A>G (p.Glu592=) http://identifiers.org/clinvar/130116 ^@ NM_005045.3(RELN):c.1888A>C (p.Ser630Arg) http://identifiers.org/clinvar/130117 ^@ NM_005045.3(RELN):c.2434C>G (p.His812Asp) http://identifiers.org/clinvar/130118 ^@ NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) http://identifiers.org/clinvar/130119 ^@ NM_005045.3(RELN):c.2989C>G (p.Leu997Val) http://identifiers.org/clinvar/130120 ^@ NM_005045.3(RELN):c.3125C>T (p.Ser1042Leu) http://identifiers.org/clinvar/130121 ^@ NM_005045.3(RELN):c.416C>G (p.Thr139Ser) http://identifiers.org/clinvar/130122 ^@ NM_005045.3(RELN):c.4589-8T>G http://identifiers.org/clinvar/130123 ^@ NM_005045.3(RELN):c.4907A>G (p.Asp1636Gly) http://identifiers.org/clinvar/130124 ^@ NM_005045.3(RELN):c.5095G>A (p.Glu1699Lys) http://identifiers.org/clinvar/130125 ^@ NM_005045.3(RELN):c.5108C>G (p.Pro1703Arg) http://identifiers.org/clinvar/130126 ^@ NM_005045.3(RELN):c.5156C>T (p.Ser1719Leu) http://identifiers.org/clinvar/130127 ^@ NM_005045.3(RELN):c.5284G>A (p.Val1762Ile) http://identifiers.org/clinvar/130128 ^@ NM_005045.3(RELN):c.5351+3A>G http://identifiers.org/clinvar/130129 ^@ NM_005045.3(RELN):c.5775A>G (p.Arg1925=) http://identifiers.org/clinvar/130130 ^@ NM_005045.3(RELN):c.5796C>T (p.Asn1932=) http://identifiers.org/clinvar/130131 ^@ NM_005045.3(RELN):c.5831T>G (p.Phe1944Cys) http://identifiers.org/clinvar/130132 ^@ NM_005045.3(RELN):c.6213C>T (p.Thr2071=) http://identifiers.org/clinvar/130133 ^@ NM_005045.3(RELN):c.6343G>A (p.Gly2115Ser) http://identifiers.org/clinvar/130134 ^@ NM_005045.3(RELN):c.6671+8T>C http://identifiers.org/clinvar/130135 ^@ NM_005045.3(RELN):c.6726G>C (p.Arg2242Ser) http://identifiers.org/clinvar/130136 ^@ NM_001142633.2(PIK3R5):c.1101G>A (p.Ser367=) http://identifiers.org/clinvar/130137 ^@ NM_198859.3(PRICKLE2):c.816T>C (p.Asp272=) http://identifiers.org/clinvar/130138 ^@ NM_005045.3(RELN):c.7086C>T (p.Thr2362=) http://identifiers.org/clinvar/130139 ^@ NM_005045.3(RELN):c.7111G>A (p.Ala2371Thr) http://identifiers.org/clinvar/130140 ^@ NM_005045.3(RELN):c.7114G>A (p.Val2372Met) http://identifiers.org/clinvar/130141 ^@ NM_005045.3(RELN):c.7530C>T (p.Pro2510=) http://identifiers.org/clinvar/130142 ^@ NM_005045.3(RELN):c.7887T>C (p.Pro2629=) http://identifiers.org/clinvar/130143 ^@ NM_005045.3(RELN):c.8086G>A (p.Ala2696Thr) http://identifiers.org/clinvar/130144 ^@ NM_005045.3(RELN):c.8798C>T (p.Thr2933Ile) http://identifiers.org/clinvar/130145 ^@ NM_005045.3(RELN):c.9714C>T (p.His3238=) http://identifiers.org/clinvar/130146 ^@ NM_005045.3(RELN):c.9730G>A (p.Gly3244Ser) http://identifiers.org/clinvar/130147 ^@ NM_005045.3(RELN):c.9903C>T (p.Tyr3301=) http://identifiers.org/clinvar/130148 ^@ NM_173560.3(RFX6):c.1327C>T (p.His443Tyr) http://identifiers.org/clinvar/130149 ^@ NM_173560.3(RFX6):c.1328-10T>C http://identifiers.org/clinvar/130150 ^@ NM_173560.3(RFX6):c.1383T>C (p.Thr461=) http://identifiers.org/clinvar/130151 ^@ NM_173560.3(RFX6):c.1542T>C (p.Asn514=) http://identifiers.org/clinvar/130152 ^@ NM_173560.3(RFX6):c.1782C>T (p.His594=) http://identifiers.org/clinvar/130153 ^@ NM_173560.3(RFX6):c.1914T>C (p.Gly638=) http://identifiers.org/clinvar/130154 ^@ NM_173560.3(RFX6):c.2166C>T (p.Thr722=) http://identifiers.org/clinvar/130155 ^@ NM_173560.3(RFX6):c.2369G>A (p.Gly790Glu) http://identifiers.org/clinvar/130156 ^@ NM_173560.3(RFX6):c.50C>A (p.Ala17Glu) http://identifiers.org/clinvar/130157 ^@ NM_173560.3(RFX6):c.541C>T (p.Arg181Trp) http://identifiers.org/clinvar/130158 ^@ NM_001160223.1(RNF170):c.640A>G (p.Ile214Val) http://identifiers.org/clinvar/130159 ^@ NM_207111.3(RNF216):c.1170C>T (p.Asp390=) http://identifiers.org/clinvar/130160 ^@ NM_024589.2(ROGDI):c.414G>A (p.Thr138=) http://identifiers.org/clinvar/130161 ^@ NM_006013.4(RPL10):c.23+9T>A http://identifiers.org/clinvar/130162 ^@ NM_004586.2(RPS6KA3):c.139A>G (p.Ile47Val) http://identifiers.org/clinvar/130163 ^@ NM_206900.2(RTN2):c.96T>C (p.Ser32=) http://identifiers.org/clinvar/130164 ^@ NM_173630.3(RTTN):c.1008-4G>T http://identifiers.org/clinvar/130165 ^@ NM_173630.3(RTTN):c.1665C>A (p.Asn555Lys) http://identifiers.org/clinvar/130166 ^@ NM_173630.3(RTTN):c.183G>A (p.Lys61=) http://identifiers.org/clinvar/130167 ^@ NM_173630.3(RTTN):c.1842A>G (p.Glu614=) http://identifiers.org/clinvar/130168 ^@ NM_173630.3(RTTN):c.1921A>G (p.Ile641Val) http://identifiers.org/clinvar/130169 ^@ NM_173630.3(RTTN):c.2055+7C>T http://identifiers.org/clinvar/130170 ^@ NM_173630.3(RTTN):c.227C>T (p.Pro76Leu) http://identifiers.org/clinvar/130171 ^@ NM_173630.3(RTTN):c.2466A>G (p.Arg822=) http://identifiers.org/clinvar/130172 ^@ NM_173630.3(RTTN):c.2856A>G (p.Leu952=) http://identifiers.org/clinvar/130173 ^@ NM_173630.3(RTTN):c.2886-9A>G http://identifiers.org/clinvar/130174 ^@ NM_173630.3(RTTN):c.2990C>T (p.Ala997Val) http://identifiers.org/clinvar/130175 ^@ NM_173630.3(RTTN):c.32-3C>T http://identifiers.org/clinvar/130176 ^@ NM_173630.3(RTTN):c.3337T>C (p.Cys1113Arg) http://identifiers.org/clinvar/130177 ^@ NM_173630.3(RTTN):c.3581A>G (p.Glu1194Gly) http://identifiers.org/clinvar/130178 ^@ NM_173630.3(RTTN):c.376T>A (p.Ser126Thr) http://identifiers.org/clinvar/130179 ^@ NM_173630.3(RTTN):c.376T>G (p.Ser126Ala) http://identifiers.org/clinvar/130180 ^@ NM_173630.3(RTTN):c.4303-8A>G http://identifiers.org/clinvar/130181 ^@ NM_173630.3(RTTN):c.4748-5A>G http://identifiers.org/clinvar/130182 ^@ NM_173630.3(RTTN):c.4850T>C (p.Met1617Thr) http://identifiers.org/clinvar/130183 ^@ NM_173630.3(RTTN):c.4889G>C (p.Arg1630Thr) http://identifiers.org/clinvar/130184 ^@ NM_173630.3(RTTN):c.4940+7G>A http://identifiers.org/clinvar/130185 ^@ NM_173630.3(RTTN):c.4992G>C (p.Leu1664=) http://identifiers.org/clinvar/130186 ^@ NM_173630.3(RTTN):c.5060C>G (p.Ser1687Cys) http://identifiers.org/clinvar/130187 ^@ NM_173630.3(RTTN):c.5186-4A>G http://identifiers.org/clinvar/130188 ^@ NM_173630.3(RTTN):c.5282T>C (p.Phe1761Ser) http://identifiers.org/clinvar/130189 ^@ NM_173630.3(RTTN):c.5991T>C (p.Pro1997=) http://identifiers.org/clinvar/130190 ^@ NM_173630.3(RTTN):c.6038G>T (p.Cys2013Phe) http://identifiers.org/clinvar/130191 ^@ NM_173630.3(RTTN):c.6144A>G (p.Val2048=) http://identifiers.org/clinvar/130192 ^@ NM_173630.3(RTTN):c.6153+5G>A http://identifiers.org/clinvar/130193 ^@ NM_173630.3(RTTN):c.635A>C (p.Asp212Ala) http://identifiers.org/clinvar/130194 ^@ NM_173630.3(RTTN):c.6445G>A (p.Ala2149Thr) http://identifiers.org/clinvar/130195 ^@ NM_173630.3(RTTN):c.6535G>C (p.Ala2179Pro) http://identifiers.org/clinvar/130196 ^@ NM_173630.3(RTTN):c.6636T>C (p.Tyr2212=) http://identifiers.org/clinvar/130197 ^@ NM_173630.3(RTTN):c.734A>G (p.Lys245Arg) http://identifiers.org/clinvar/130198 ^@ NM_173630.3(RTTN):c.805T>C (p.Phe269Leu) http://identifiers.org/clinvar/130199 ^@ NM_014363.5(SACS):c.10106T>C (p.Val3369Ala) http://identifiers.org/clinvar/130200 ^@ NM_014363.5(SACS):c.10338G>A (p.Gln3446=) http://identifiers.org/clinvar/130201 ^@ NM_014363.5(SACS):c.12304T>C (p.Leu4102=) http://identifiers.org/clinvar/130202 ^@ NM_014363.5(SACS):c.1656A>G (p.Leu552=) http://identifiers.org/clinvar/130203 ^@ NM_014363.5(SACS):c.6195T>C (p.Ile2065=) http://identifiers.org/clinvar/130204 ^@ NM_014363.5(SACS):c.696T>A (p.Asn232Lys) http://identifiers.org/clinvar/130205 ^@ NM_014363.5(SACS):c.8853T>C (p.Val2951=) http://identifiers.org/clinvar/130206 ^@ NM_014363.5(SACS):c.9981T>C (p.Ala3327=) http://identifiers.org/clinvar/130207 ^@ NM_001165963.1(SCN1A):c.4887C>T (p.Phe1629=) http://identifiers.org/clinvar/130208 ^@ NM_006920.4(SCN1A):c.5764delC (p.Arg1922Glufs) http://identifiers.org/clinvar/130209 ^@ NM_001165963.1(SCN1A):c.756C>T (p.Ile252=) http://identifiers.org/clinvar/130210 ^@ NM_001037.4(SCN1B):c.501T>C (p.Ile167=) http://identifiers.org/clinvar/130211 ^@ NM_021007.2(SCN2A):c.1269G>A (p.Val423=) http://identifiers.org/clinvar/130212 ^@ NM_021007.2(SCN2A):c.1280C>A (p.Ala427Asp) http://identifiers.org/clinvar/130213 ^@ NM_021007.2(SCN2A):c.1376A>C (p.Glu459Ala) http://identifiers.org/clinvar/130214 ^@ NM_021007.2(SCN2A):c.4565G>C (p.Gly1522Ala) http://identifiers.org/clinvar/130215 ^@ NM_021007.2(SCN2A):c.5187A>G (p.Pro1729=) http://identifiers.org/clinvar/130216 ^@ NM_021007.2(SCN2A):c.1035-3T>C http://identifiers.org/clinvar/130217 ^@ NM_021007.2(SCN2A):c.1785T>C (p.Asp595=) http://identifiers.org/clinvar/130218 ^@ NM_021007.2(SCN2A):c.1842G>T (p.Pro614=) http://identifiers.org/clinvar/130219 ^@ NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg) http://identifiers.org/clinvar/130220 ^@ NM_001040142.1(SCN2A):c.3374delA (p.Glu1125Glyfs) http://identifiers.org/clinvar/130221 ^@ NM_021007.2(SCN2A):c.387-10G>A http://identifiers.org/clinvar/130222 ^@ NM_021007.2(SCN2A):c.4254+5G>A http://identifiers.org/clinvar/130223 ^@ NM_021007.2(SCN2A):c.4914T>A (p.Arg1638=) http://identifiers.org/clinvar/130224 ^@ NM_021007.2(SCN2A):c.56G>A (p.Arg19Lys) http://identifiers.org/clinvar/130225 ^@ NM_021007.2(SCN2A):c.5910G>A (p.Thr1970=) http://identifiers.org/clinvar/130226 ^@ NM_021007.2(SCN2A):c.5919C>T (p.Pro1973=) http://identifiers.org/clinvar/130227 ^@ NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) http://identifiers.org/clinvar/130228 ^@ NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) http://identifiers.org/clinvar/130229 ^@ NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) http://identifiers.org/clinvar/130230 ^@ NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) http://identifiers.org/clinvar/130231 ^@ NM_000334.4(SCN4A):c.2989+5G>A http://identifiers.org/clinvar/130232 ^@ NM_000334.4(SCN4A):c.3441+7G>A http://identifiers.org/clinvar/130233 ^@ NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) http://identifiers.org/clinvar/130234 ^@ NM_000334.4(SCN4A):c.366C>T (p.Arg122=) http://identifiers.org/clinvar/130235 ^@ NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) http://identifiers.org/clinvar/130236 ^@ NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) http://identifiers.org/clinvar/130237 ^@ NM_000334.4(SCN4A):c.4288+10G>T http://identifiers.org/clinvar/130238 ^@ NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) http://identifiers.org/clinvar/130239 ^@ NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) http://identifiers.org/clinvar/130240 ^@ NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) http://identifiers.org/clinvar/130241 ^@ NM_000334.4(SCN4A):c.864C>T (p.Asn288=) http://identifiers.org/clinvar/130242 ^@ NM_014191.3(SCN8A):c.1833G>T (p.Arg611=) http://identifiers.org/clinvar/130243 ^@ NM_014191.3(SCN8A):c.2132-8_2132-5del http://identifiers.org/clinvar/130244 ^@ NM_014191.3(SCN8A):c.3076C>T (p.Arg1026Cys) http://identifiers.org/clinvar/130245 ^@ NM_014191.3(SCN8A):c.3158T>G (p.Ile1053Ser) http://identifiers.org/clinvar/130246 ^@ NM_014191.3(SCN8A):c.4122T>A (p.Thr1374=) http://identifiers.org/clinvar/130247 ^@ NM_014191.3(SCN8A):c.4509T>C (p.Pro1503=) http://identifiers.org/clinvar/130248 ^@ NM_014191.3(SCN8A):c.4748T>C (p.Ile1583Thr) http://identifiers.org/clinvar/130249 ^@ NM_014191.3(SCN8A):c.4774G>C (p.Val1592Leu) http://identifiers.org/clinvar/130250 ^@ NM_014191.3(SCN8A):c.4779C>T (p.Val1593=) http://identifiers.org/clinvar/130251 ^@ NM_014191.3(SCN8A):c.5472C>A (p.Pro1824=) http://identifiers.org/clinvar/130252 ^@ NM_014191.3(SCN8A):c.5630A>G (p.Asn1877Ser) http://identifiers.org/clinvar/130253 ^@ NM_014191.3(SCN8A):c.576C>T (p.Asp192=) http://identifiers.org/clinvar/130254 ^@ NM_002977.3(SCN9A):c.1119T>C (p.Ala373=) http://identifiers.org/clinvar/130255 ^@ NM_002977.3(SCN9A):c.1155G>T (p.Val385=) http://identifiers.org/clinvar/130256 ^@ NM_002977.3(SCN9A):c.1266A>G (p.Glu422=) http://identifiers.org/clinvar/130257 ^@ NM_002977.3(SCN9A):c.1287T>A (p.Arg429=) http://identifiers.org/clinvar/130258 ^@ NM_002977.3(SCN9A):c.1469G>A (p.Ser490Asn) http://identifiers.org/clinvar/130259 ^@ NM_002977.3(SCN9A):c.174G>A (p.Gln58=) http://identifiers.org/clinvar/130260 ^@ NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) http://identifiers.org/clinvar/130261 ^@ NM_002977.3(SCN9A):c.3162C>T (p.Ser1054=) http://identifiers.org/clinvar/130262 ^@ NM_002977.3(SCN9A):c.3329G>A (p.Arg1110Gln) http://identifiers.org/clinvar/130263 ^@ NM_002977.3(SCN9A):c.3476T>C (p.Ile1159Thr) http://identifiers.org/clinvar/130264 ^@ NM_002977.3(SCN9A):c.3642C>A (p.Ile1214=) http://identifiers.org/clinvar/130265 ^@ NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) http://identifiers.org/clinvar/130266 ^@ NM_002977.3(SCN9A):c.3769-4A>G http://identifiers.org/clinvar/130267 ^@ NM_002977.3(SCN9A):c.3769-8T>C http://identifiers.org/clinvar/130268 ^@ NM_002977.3(SCN9A):c.4010A>G (p.Tyr1337Cys) http://identifiers.org/clinvar/130269 ^@ NM_002977.3(SCN9A):c.444A>G (p.Pro148=) http://identifiers.org/clinvar/130270 ^@ NM_002977.3(SCN9A):c.4779G>T (p.Val1593=) http://identifiers.org/clinvar/130271 ^@ NM_002977.3(SCN9A):c.4787C>T (p.Thr1596Ile) http://identifiers.org/clinvar/130272 ^@ NM_002977.3(SCN9A):c.4890T>C (p.Leu1630=) http://identifiers.org/clinvar/130273 ^@ NM_004168.3(SDHA):c.1038C>G (p.Ser346=) http://identifiers.org/clinvar/130274 ^@ NM_004168.3(SDHA):c.1170C>T (p.Phe390=) http://identifiers.org/clinvar/130275 ^@ NM_004168.3(SDHA):c.1664-8G>A http://identifiers.org/clinvar/130276 ^@ NM_004168.3(SDHA):c.1680G>A (p.Thr560=) http://identifiers.org/clinvar/130277 ^@ NM_004168.3(SDHA):c.1752A>G (p.Ala584=) http://identifiers.org/clinvar/130278 ^@ NM_004168.3(SDHA):c.1932G>A (p.Val644=) http://identifiers.org/clinvar/130279 ^@ NM_004168.3(SDHA):c.1969G>A (p.Val657Ile) http://identifiers.org/clinvar/130280 ^@ NM_004168.3(SDHA):c.309A>G (p.Ala103=) http://identifiers.org/clinvar/130281 ^@ NM_004168.3(SDHA):c.619A>C (p.Arg207=) http://identifiers.org/clinvar/130282 ^@ NM_004168.3(SDHA):c.684T>C (p.Asn228=) http://identifiers.org/clinvar/130283 ^@ NM_004168.3(SDHA):c.891T>C (p.Pro297=) http://identifiers.org/clinvar/130284 ^@ NM_020451.2(SELENON):c.409A>G (p.Thr137Ala) http://identifiers.org/clinvar/130285 ^@ NM_016955.3(SEPSECS):c.489G>A (p.Lys163=) http://identifiers.org/clinvar/130286 ^@ NM_016955.3(SEPSECS):c.780A>G (p.Ser260=) http://identifiers.org/clinvar/130287 ^@ NM_016955.3(SEPSECS):c.1211+7A>G http://identifiers.org/clinvar/130288 ^@ NM_016955.3(SEPSECS):c.1356G>C (p.Lys452Asn) http://identifiers.org/clinvar/130289 ^@ NM_016955.3(SEPSECS):c.1394G>A (p.Arg465Gln) http://identifiers.org/clinvar/130290 ^@ NM_016955.3(SEPSECS):c.935-5T>G http://identifiers.org/clinvar/130291 ^@ NM_005850.4(SF3B4):c.682T>C (p.Leu228=) http://identifiers.org/clinvar/130293 ^@ NM_000023.3(SGCA):c.528C>T (p.Thr176=) http://identifiers.org/clinvar/130294 ^@ NM_000023.3(SGCA):c.933C>T (p.Val311=) http://identifiers.org/clinvar/130295 ^@ NM_000231.2(SGCG):c.435C>T (p.Asn145=) http://identifiers.org/clinvar/130296 ^@ NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) http://identifiers.org/clinvar/130297 ^@ NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) http://identifiers.org/clinvar/130298 ^@ NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) http://identifiers.org/clinvar/130299 ^@ NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) http://identifiers.org/clinvar/130300 ^@ NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) http://identifiers.org/clinvar/130301 ^@ NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) http://identifiers.org/clinvar/130302 ^@ NM_133266.4(SHANK2):c.1028A>C (p.Lys343Thr) http://identifiers.org/clinvar/130303 ^@ NM_133266.4(SHANK2):c.1136A>G (p.Tyr379Cys) http://identifiers.org/clinvar/130304 ^@ NM_133266.4(SHANK2):c.2697C>T (p.Ala899=) http://identifiers.org/clinvar/130305 ^@ NM_133266.4(SHANK2):c.3730C>T (p.Arg1244Ter) http://identifiers.org/clinvar/130307 ^@ NM_020717.3(SHROOM4):c.1627A>T (p.Thr543Ser) http://identifiers.org/clinvar/130308 ^@ NM_020717.3(SHROOM4):c.1879C>T (p.Pro627Ser) http://identifiers.org/clinvar/130310 ^@ NM_020717.3(SHROOM4):c.3611A>G (p.Glu1204Gly) http://identifiers.org/clinvar/130311 ^@ NM_020717.3(SHROOM4):c.3734C>T (p.Ser1245Leu) http://identifiers.org/clinvar/130312 ^@ NM_020717.3(SHROOM4):c.3944T>C (p.Ile1315Thr) http://identifiers.org/clinvar/130313 ^@ NM_020717.3(SHROOM4):c.439C>T (p.His147Tyr) http://identifiers.org/clinvar/130314 ^@ NM_020717.3(SHROOM4):c.96T>C (p.Cys32=) http://identifiers.org/clinvar/130315 ^@ NM_003051.3(SLC16A1):c.1470T>A (p.Asp490Glu) http://identifiers.org/clinvar/130316 ^@ NM_012434.4(SLC17A5):c.246G>A (p.Ala82=) http://identifiers.org/clinvar/130317 ^@ NM_006996.2(SLC19A2):c.-4C>T http://identifiers.org/clinvar/130318 ^@ NM_006996.2(SLC19A2):c.1080T>C (p.Thr360=) http://identifiers.org/clinvar/130319 ^@ NM_006996.2(SLC19A2):c.1215G>A (p.Thr405=) http://identifiers.org/clinvar/130320 ^@ NM_025243.3(SLC19A3):c.1049T>C (p.Val350Ala) http://identifiers.org/clinvar/130321 ^@ NM_025243.3(SLC19A3):c.309G>A (p.Val103=) http://identifiers.org/clinvar/130322 ^@ NM_025243.3(SLC19A3):c.42C>T (p.Tyr14=) http://identifiers.org/clinvar/130323 ^@ NM_025243.3(SLC19A3):c.435C>T (p.Ser145=) http://identifiers.org/clinvar/130324 ^@ NM_025243.3(SLC19A3):c.520G>A (p.Val174Ile) http://identifiers.org/clinvar/130325 ^@ NM_025243.3(SLC19A3):c.549T>C (p.Ala183=) http://identifiers.org/clinvar/130326 ^@ NM_004172.4(SLC1A3):c.657G>C (p.Glu219Asp) http://identifiers.org/clinvar/130327 ^@ NM_021734.4(SLC25A19):c.*2T>C http://identifiers.org/clinvar/130328 ^@ NM_021734.4(SLC25A19):c.146G>A (p.Arg49His) http://identifiers.org/clinvar/130329 ^@ NM_021734.4(SLC25A19):c.332G>A (p.Ser111Asn) http://identifiers.org/clinvar/130330 ^@ NM_021734.4(SLC25A19):c.339T>C (p.Tyr113=) http://identifiers.org/clinvar/130331 ^@ NM_021734.4(SLC25A19):c.414C>T (p.Pro138=) http://identifiers.org/clinvar/130332 ^@ NM_021734.4(SLC25A19):c.750G>A (p.Glu250=) http://identifiers.org/clinvar/130333 ^@ NM_021734.4(SLC25A19):c.819G>A (p.Leu273=) http://identifiers.org/clinvar/130334 ^@ NM_018344.5(SLC29A3):c.-63C>T http://identifiers.org/clinvar/130335 ^@ NM_018344.5(SLC29A3):c.304T>C (p.Tyr102His) http://identifiers.org/clinvar/130336 ^@ NM_018344.5(SLC29A3):c.597G>A (p.Gln199=) http://identifiers.org/clinvar/130337 ^@ NM_018344.5(SLC29A3):c.1008T>C (p.Gly336=) http://identifiers.org/clinvar/130338 ^@ NM_018344.5(SLC29A3):c.1228C>T (p.Gln410Ter) http://identifiers.org/clinvar/130339 ^@ NM_018344.5(SLC29A3):c.300+1G>A http://identifiers.org/clinvar/130340 ^@ NM_018344.5(SLC29A3):c.383+8A>G http://identifiers.org/clinvar/130341 ^@ NM_018344.5(SLC29A3):c.473C>T (p.Ser158Phe) http://identifiers.org/clinvar/130342 ^@ NM_018344.5(SLC29A3):c.52A>G (p.Arg18Gly) http://identifiers.org/clinvar/130343 ^@ NM_018344.5(SLC29A3):c.714T>C (p.Thr238=) http://identifiers.org/clinvar/130344 ^@ NM_018344.5(SLC29A3):c.715G>A (p.Val239Ile) http://identifiers.org/clinvar/130345 ^@ NM_018344.5(SLC29A3):c.831C>T (p.Pro277=) http://identifiers.org/clinvar/130346 ^@ NM_018344.5(SLC29A3):c.842T>C (p.Leu281Pro) http://identifiers.org/clinvar/130347 ^@ NM_018344.5(SLC29A3):c.976A>G (p.Ile326Val) http://identifiers.org/clinvar/130348 ^@ NM_000340.1(SLC2A2):c.1437C>T (p.Phe479=) http://identifiers.org/clinvar/130349 ^@ NM_000340.1(SLC2A2):c.329C>T (p.Thr110Ile) http://identifiers.org/clinvar/130350 ^@ NM_000340.1(SLC2A2):c.496+8A>T http://identifiers.org/clinvar/130351 ^@ NM_000340.1(SLC2A2):c.594G>A (p.Thr198=) http://identifiers.org/clinvar/130352 ^@ NM_001003841.2(SLC6A19):c.306T>C (p.Gly102=) http://identifiers.org/clinvar/130353 ^@ NM_001003841.2(SLC6A19):c.754G>A (p.Val252Ile) http://identifiers.org/clinvar/130354 ^@ NM_001003841.2(SLC6A19):c.990A>G (p.Thr330=) http://identifiers.org/clinvar/130355 ^@ NM_005629.3(SLC6A8):c.-5A>G http://identifiers.org/clinvar/130357 ^@ NM_018013.3(SOBP):c.1382A>C (p.His461Pro) http://identifiers.org/clinvar/130358 ^@ NM_018013.3(SOBP):c.1810C>A (p.Gln604Lys) http://identifiers.org/clinvar/130359 ^@ NM_018013.3(SOBP):c.1905C>T (p.Gly635=) http://identifiers.org/clinvar/130360 ^@ NM_018013.3(SOBP):c.1615A>G (p.Ile539Val) http://identifiers.org/clinvar/130361 ^@ NM_018013.3(SOBP):c.2047A>G (p.Ser683Gly) http://identifiers.org/clinvar/130362 ^@ NM_018013.3(SOBP):c.319A>G (p.Thr107Ala) http://identifiers.org/clinvar/130363 ^@ NM_025137.3(SPG11):c.1347C>T (p.Thr449=) http://identifiers.org/clinvar/130364 ^@ NM_025137.3(SPG11):c.1348A>G (p.Ile450Val) http://identifiers.org/clinvar/130365 ^@ NM_025137.3(SPG11):c.3818A>G (p.Lys1273Arg) http://identifiers.org/clinvar/130366 ^@ NM_025137.3(SPG11):c.6258G>T (p.Leu2086=) http://identifiers.org/clinvar/130367 ^@ NM_025137.3(SPG11):c.6330G>A (p.Gly2110=) http://identifiers.org/clinvar/130368 ^@ NM_015087.4(SPG20):c.1629A>G (p.Ala543=) http://identifiers.org/clinvar/130369 ^@ NM_003119.3(SPG7):c.1507A>G (p.Thr503Ala) http://identifiers.org/clinvar/130370 ^@ NM_003119.3(SPG7):c.2063G>A (p.Arg688Gln) http://identifiers.org/clinvar/130371 ^@ NM_006946.2(SPTBN2):c.3101T>C (p.Val1034Ala) http://identifiers.org/clinvar/130372 ^@ NM_006946.2(SPTBN2):c.585C>T (p.Asn195=) http://identifiers.org/clinvar/130373 ^@ NM_014467.2(SRPX2):c.1294A>G (p.Met432Val) http://identifiers.org/clinvar/130374 ^@ NM_014467.2(SRPX2):c.1373G>A (p.Arg458Gln) http://identifiers.org/clinvar/130375 ^@ NM_174968.3(ST3GAL3):c.1054-9G>A http://identifiers.org/clinvar/130376 ^@ NM_174968.3(ST3GAL3):c.1201-7C>A http://identifiers.org/clinvar/130377 ^@ NM_174963.3(ST3GAL3):c.1286G>A (p.Arg429Gln) http://identifiers.org/clinvar/130378 ^@ NM_174968.3(ST3GAL3):c.337A>G (p.Thr113Ala) http://identifiers.org/clinvar/130379 ^@ NM_174968.3(ST3GAL3):c.560-7T>C http://identifiers.org/clinvar/130380 ^@ NM_174968.3(ST3GAL3):c.798C>T (p.Gly266=) http://identifiers.org/clinvar/130381 ^@ NM_003896.3(ST3GAL5):c.1059C>T (p.Cys353=) http://identifiers.org/clinvar/130382 ^@ NM_003896.3(ST3GAL5):c.311A>G (p.His104Arg) http://identifiers.org/clinvar/130383 ^@ NM_000456.2(SUOX):c.1281G>C (p.Ser427=) http://identifiers.org/clinvar/130384 ^@ NM_133499.2(SYN1):c.1621G>C (p.Gly541Arg) http://identifiers.org/clinvar/130385 ^@ NM_133499.2(SYN1):c.838-8T>G http://identifiers.org/clinvar/130386 ^@ NM_133499.2(SYN1):c.912C>T (p.Ala304=) http://identifiers.org/clinvar/130387 ^@ NM_033071.3(SYNE1):c.10043T>C (p.Val3348Ala) http://identifiers.org/clinvar/130388 ^@ NM_033071.3(SYNE1):c.10212C>A (p.Gly3404=) http://identifiers.org/clinvar/130389 ^@ NM_033071.3(SYNE1):c.10228G>A (p.Gly3410Ser) http://identifiers.org/clinvar/130390 ^@ NM_033071.3(SYNE1):c.10543T>C (p.Leu3515=) http://identifiers.org/clinvar/130391 ^@ NM_033071.3(SYNE1):c.10619G>A (p.Arg3540His) http://identifiers.org/clinvar/130392 ^@ NM_033071.3(SYNE1):c.1068+4T>A http://identifiers.org/clinvar/130393 ^@ NM_033071.3(SYNE1):c.10881+6T>C http://identifiers.org/clinvar/130394 ^@ NM_033071.3(SYNE1):c.11576A>C (p.Lys3859Thr) http://identifiers.org/clinvar/130395 ^@ NM_033071.3(SYNE1):c.11844G>A (p.Ala3948=) http://identifiers.org/clinvar/130396 ^@ NM_033071.3(SYNE1):c.11925G>A (p.Gln3975=) http://identifiers.org/clinvar/130397 ^@ NM_033071.3(SYNE1):c.11967G>T (p.Glu3989Asp) http://identifiers.org/clinvar/130398 ^@ NM_033071.3(SYNE1):c.12063C>T (p.Leu4021=) http://identifiers.org/clinvar/130399 ^@ NM_033071.3(SYNE1):c.12149A>G (p.Lys4050Arg) http://identifiers.org/clinvar/130400 ^@ NM_033071.3(SYNE1):c.12150G>T (p.Lys4050Asn) http://identifiers.org/clinvar/130401 ^@ NM_033071.3(SYNE1):c.12229G>C (p.Asp4077His) http://identifiers.org/clinvar/130402 ^@ NM_033071.3(SYNE1):c.12394G>A (p.Glu4132Lys) http://identifiers.org/clinvar/130403 ^@ NM_033071.3(SYNE1):c.13008C>T (p.Asp4336=) http://identifiers.org/clinvar/130404 ^@ NM_033071.3(SYNE1):c.13573T>A (p.Ser4525Thr) http://identifiers.org/clinvar/130405 ^@ NM_033071.3(SYNE1):c.13848G>C (p.Leu4616=) http://identifiers.org/clinvar/130406 ^@ NM_033071.3(SYNE1):c.13894G>A (p.Asp4632Asn) http://identifiers.org/clinvar/130407 ^@ NM_033071.3(SYNE1):c.14704C>T (p.Leu4902=) http://identifiers.org/clinvar/130408 ^@ NM_033071.3(SYNE1):c.14830T>A (p.Leu4944Met) http://identifiers.org/clinvar/130409 ^@ NM_033071.3(SYNE1):c.15384C>G (p.Ala5128=) http://identifiers.org/clinvar/130410 ^@ NM_033071.3(SYNE1):c.16064C>T (p.Thr5355Met) http://identifiers.org/clinvar/130411 ^@ NM_033071.3(SYNE1):c.17126G>A (p.Arg5709Gln) http://identifiers.org/clinvar/130412 ^@ NM_033071.3(SYNE1):c.17133+7G>A http://identifiers.org/clinvar/130413 ^@ NM_033071.3(SYNE1):c.17205G>A (p.Thr5735=) http://identifiers.org/clinvar/130414 ^@ NM_033071.3(SYNE1):c.17532C>T (p.His5844=) http://identifiers.org/clinvar/130415 ^@ NM_033071.3(SYNE1):c.18588C>T (p.Thr6196=) http://identifiers.org/clinvar/130416 ^@ NM_033071.3(SYNE1):c.19776T>C (p.His6592=) http://identifiers.org/clinvar/130418 ^@ NM_033071.3(SYNE1):c.20358A>T (p.Ser6786=) http://identifiers.org/clinvar/130419 ^@ NM_033071.3(SYNE1):c.21691T>G (p.Phe7231Val) http://identifiers.org/clinvar/130420 ^@ NM_033071.3(SYNE1):c.22239A>G (p.Ser7413=) http://identifiers.org/clinvar/130421 ^@ NM_033071.3(SYNE1):c.22260G>A (p.Leu7420=) http://identifiers.org/clinvar/130422 ^@ NM_033071.3(SYNE1):c.22303A>G (p.Ser7435Gly) http://identifiers.org/clinvar/130423 ^@ NM_033071.3(SYNE1):c.22458C>T (p.Ile7486=) http://identifiers.org/clinvar/130424 ^@ NM_033071.3(SYNE1):c.22596C>T (p.Leu7532=) http://identifiers.org/clinvar/130425 ^@ NM_033071.3(SYNE1):c.24012A>G (p.Ala8004=) http://identifiers.org/clinvar/130426 ^@ NM_033071.3(SYNE1):c.24289G>T (p.Ala8097Ser) http://identifiers.org/clinvar/130427 ^@ NM_033071.3(SYNE1):c.24612G>A (p.Pro8204=) http://identifiers.org/clinvar/130428 ^@ NM_033071.3(SYNE1):c.24755G>C (p.Gly8252Ala) http://identifiers.org/clinvar/130429 ^@ NM_033071.3(SYNE1):c.24780A>G (p.Glu8260=) http://identifiers.org/clinvar/130430 ^@ NM_033071.3(SYNE1):c.24894T>C (p.Arg8298=) http://identifiers.org/clinvar/130431 ^@ NM_033071.3(SYNE1):c.2548C>T (p.Arg850Cys) http://identifiers.org/clinvar/130432 ^@ NM_033071.3(SYNE1):c.25858-4A>G http://identifiers.org/clinvar/130433 ^@ NM_033071.3(SYNE1):c.25916C>T (p.Thr8639Ile) http://identifiers.org/clinvar/130434 ^@ NM_033071.3(SYNE1):c.26060G>A (p.Arg8687Gln) http://identifiers.org/clinvar/130435 ^@ NM_033071.3(SYNE1):c.26065G>A (p.Gly8689Ser) http://identifiers.org/clinvar/130436 ^@ NM_033071.3(SYNE1):c.26077C>A (p.Leu8693Met) http://identifiers.org/clinvar/130437 ^@ NM_033071.3(SYNE1):c.2674T>G (p.Leu892Val) http://identifiers.org/clinvar/130438 ^@ NM_033071.3(SYNE1):c.3125T>C (p.Val1042Ala) http://identifiers.org/clinvar/130439 ^@ NM_033071.3(SYNE1):c.3327C>T (p.His1109=) http://identifiers.org/clinvar/130440 ^@ NM_033071.3(SYNE1):c.3690+4C>G http://identifiers.org/clinvar/130441 ^@ NM_033071.3(SYNE1):c.3825G>A (p.Leu1275=) http://identifiers.org/clinvar/130442 ^@ NM_033071.3(SYNE1):c.3871C>T (p.Arg1291Trp) http://identifiers.org/clinvar/130443 ^@ NM_033071.3(SYNE1):c.3911C>T (p.Ala1304Val) http://identifiers.org/clinvar/130444 ^@ NM_033071.3(SYNE1):c.3981A>G (p.Thr1327=) http://identifiers.org/clinvar/130445 ^@ NM_033071.3(SYNE1):c.4778C>A (p.Thr1593Lys) http://identifiers.org/clinvar/130446 ^@ NM_033071.3(SYNE1):c.5211T>A (p.Asp1737Glu) http://identifiers.org/clinvar/130447 ^@ NM_033071.3(SYNE1):c.5277C>A (p.Ile1759=) http://identifiers.org/clinvar/130448 ^@ NM_033071.3(SYNE1):c.6491A>G (p.Lys2164Arg) http://identifiers.org/clinvar/130449 ^@ NM_033071.3(SYNE1):c.8184C>T (p.Ser2728=) http://identifiers.org/clinvar/130450 ^@ NM_033071.3(SYNE1):c.8198+9C>T http://identifiers.org/clinvar/130451 ^@ NM_033071.3(SYNE1):c.8357T>G (p.Ile2786Ser) http://identifiers.org/clinvar/130452 ^@ NM_033071.3(SYNE1):c.8405C>T (p.Ala2802Val) http://identifiers.org/clinvar/130453 ^@ NM_033071.3(SYNE1):c.9516A>G (p.Glu3172=) http://identifiers.org/clinvar/130454 ^@ NM_033071.3(SYNE1):c.9911C>T (p.Thr3304Met) http://identifiers.org/clinvar/130455 ^@ NM_033071.3(SYNE1):c.9975C>T (p.Ser3325=) http://identifiers.org/clinvar/130456 ^@ NM_182914.2(SYNE2):c.10567A>C (p.Lys3523Gln) http://identifiers.org/clinvar/130457 ^@ NM_182914.2(SYNE2):c.10835A>G (p.Gln3612Arg) http://identifiers.org/clinvar/130458 ^@ NM_182914.2(SYNE2):c.11385G>A (p.Lys3795=) http://identifiers.org/clinvar/130459 ^@ NM_182914.2(SYNE2):c.11613A>G (p.Val3871=) http://identifiers.org/clinvar/130460 ^@ NM_182914.2(SYNE2):c.11935C>G (p.Leu3979Val) http://identifiers.org/clinvar/130461 ^@ NM_182914.2(SYNE2):c.11944A>C (p.Asn3982His) http://identifiers.org/clinvar/130462 ^@ NM_182914.2(SYNE2):c.12001T>C (p.Trp4001Arg) http://identifiers.org/clinvar/130463 ^@ NM_182914.2(SYNE2):c.12002G>A (p.Trp4001Ter) http://identifiers.org/clinvar/130464 ^@ NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) http://identifiers.org/clinvar/130465 ^@ NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) http://identifiers.org/clinvar/130466 ^@ NM_182914.2(SYNE2):c.12612C>T (p.Gly4204=) http://identifiers.org/clinvar/130467 ^@ NM_182914.2(SYNE2):c.12626T>C (p.Ile4209Thr) http://identifiers.org/clinvar/130468 ^@ NM_182914.2(SYNE2):c.12840+8T>C http://identifiers.org/clinvar/130469 ^@ NM_182914.2(SYNE2):c.1296C>A (p.Ser432Arg) http://identifiers.org/clinvar/130470 ^@ NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) http://identifiers.org/clinvar/130471 ^@ NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) http://identifiers.org/clinvar/130472 ^@ NM_182914.2(SYNE2):c.13417C>T (p.Pro4473Ser) http://identifiers.org/clinvar/130473 ^@ NM_182914.2(SYNE2):c.13423-7C>G http://identifiers.org/clinvar/130474 ^@ NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) http://identifiers.org/clinvar/130475 ^@ NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) http://identifiers.org/clinvar/130476 ^@ NM_182914.2(SYNE2):c.14737G>A (p.Glu4913Lys) http://identifiers.org/clinvar/130477 ^@ NM_182914.2(SYNE2):c.14776T>C (p.Leu4926=) http://identifiers.org/clinvar/130478 ^@ NM_182914.2(SYNE2):c.14844-5G>C http://identifiers.org/clinvar/130479 ^@ NM_182914.2(SYNE2):c.15543C>T (p.Ile5181=) http://identifiers.org/clinvar/130480 ^@ NM_182914.2(SYNE2):c.15556C>A (p.Leu5186Met) http://identifiers.org/clinvar/130481 ^@ NM_182914.2(SYNE2):c.15794T>C (p.Val5265Ala) http://identifiers.org/clinvar/130482 ^@ NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) http://identifiers.org/clinvar/130483 ^@ NM_182914.2(SYNE2):c.16522T>A (p.Ser5508Thr) http://identifiers.org/clinvar/130484 ^@ NM_182914.2(SYNE2):c.16722A>G (p.Gln5574=) http://identifiers.org/clinvar/130485 ^@ NM_182914.2(SYNE2):c.17202C>A (p.Leu5734=) http://identifiers.org/clinvar/130486 ^@ NM_182914.2(SYNE2):c.1721T>C (p.Ile574Thr) http://identifiers.org/clinvar/130487 ^@ NM_182914.2(SYNE2):c.17556+4T>C http://identifiers.org/clinvar/130488 ^@ NM_182914.2(SYNE2):c.17938T>C (p.Leu5980=) http://identifiers.org/clinvar/130489 ^@ NM_182914.2(SYNE2):c.19333+5C>T http://identifiers.org/clinvar/130490 ^@ NM_182914.2(SYNE2):c.19857G>T (p.Leu6619=) http://identifiers.org/clinvar/130491 ^@ NM_182914.2(SYNE2):c.2026A>G (p.Lys676Glu) http://identifiers.org/clinvar/130492 ^@ NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) http://identifiers.org/clinvar/130493 ^@ NM_182914.2(SYNE2):c.2409C>A (p.Ser803=) http://identifiers.org/clinvar/130494 ^@ NM_182914.2(SYNE2):c.2934A>G (p.Glu978=) http://identifiers.org/clinvar/130495 ^@ NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) http://identifiers.org/clinvar/130496 ^@ NM_182914.2(SYNE2):c.399G>C (p.Leu133=) http://identifiers.org/clinvar/130497 ^@ NM_182914.2(SYNE2):c.4177C>T (p.Arg1393Trp) http://identifiers.org/clinvar/130498 ^@ NM_182914.2(SYNE2):c.4536A>G (p.Thr1512=) http://identifiers.org/clinvar/130499 ^@ NM_182914.2(SYNE2):c.4578-4T>A http://identifiers.org/clinvar/130500 ^@ NM_182914.2(SYNE2):c.5517A>T (p.Leu1839Phe) http://identifiers.org/clinvar/130501 ^@ NM_182914.2(SYNE2):c.5906T>C (p.Met1969Thr) http://identifiers.org/clinvar/130502 ^@ NM_182914.2(SYNE2):c.6321C>T (p.Ser2107=) http://identifiers.org/clinvar/130503 ^@ NM_182914.2(SYNE2):c.6481C>T (p.Leu2161=) http://identifiers.org/clinvar/130504 ^@ NM_182914.2(SYNE2):c.6851C>T (p.Ala2284Val) http://identifiers.org/clinvar/130505 ^@ NM_182914.2(SYNE2):c.6865T>C (p.Leu2289=) http://identifiers.org/clinvar/130506 ^@ NM_182914.2(SYNE2):c.7040C>A (p.Ala2347Glu) http://identifiers.org/clinvar/130507 ^@ NM_182914.2(SYNE2):c.7075A>G (p.Ser2359Gly) http://identifiers.org/clinvar/130508 ^@ NM_182914.2(SYNE2):c.7076G>A (p.Ser2359Asn) http://identifiers.org/clinvar/130509 ^@ NM_182914.2(SYNE2):c.7124T>C (p.Leu2375Pro) http://identifiers.org/clinvar/130510 ^@ NM_182914.2(SYNE2):c.7128A>G (p.Pro2376=) http://identifiers.org/clinvar/130511 ^@ NM_182914.2(SYNE2):c.7183G>A (p.Ala2395Thr) http://identifiers.org/clinvar/130512 ^@ NM_182914.2(SYNE2):c.7690A>G (p.Ile2564Val) http://identifiers.org/clinvar/130513 ^@ NM_182914.2(SYNE2):c.8404A>G (p.Ser2802Gly) http://identifiers.org/clinvar/130514 ^@ NM_182914.2(SYNE2):c.8422C>T (p.Leu2808=) http://identifiers.org/clinvar/130515 ^@ NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) http://identifiers.org/clinvar/130516 ^@ NM_182914.2(SYNE2):c.8824A>G (p.Ile2942Val) http://identifiers.org/clinvar/130517 ^@ NM_182914.2(SYNE2):c.9023T>C (p.Ile3008Thr) http://identifiers.org/clinvar/130518 ^@ NM_182914.2(SYNE2):c.9078A>T (p.Glu3026Asp) http://identifiers.org/clinvar/130519 ^@ NM_182914.2(SYNE2):c.9389A>G (p.Asn3130Ser) http://identifiers.org/clinvar/130520 ^@ NM_182914.2(SYNE2):c.9757G>C (p.Asp3253His) http://identifiers.org/clinvar/130521 ^@ NM_182914.2(SYNE2):c.9926A>G (p.His3309Arg) http://identifiers.org/clinvar/130523 ^@ NM_006772.2(SYNGAP1):c.1536A>G (p.Glu512=) http://identifiers.org/clinvar/130524 ^@ NM_006772.2(SYNGAP1):c.1713G>A (p.Ser571=) http://identifiers.org/clinvar/130525 ^@ NM_006772.2(SYNGAP1):c.1783delC (p.Leu595Cysfs) http://identifiers.org/clinvar/130526 ^@ NM_006772.2(SYNGAP1):c.1851G>A (p.Glu617=) http://identifiers.org/clinvar/130527 ^@ NM_006772.2(SYNGAP1):c.198C>T (p.Pro66=) http://identifiers.org/clinvar/130528 ^@ NM_006772.2(SYNGAP1):c.2602delG (p.Asp868Thrfs) http://identifiers.org/clinvar/130529 ^@ NM_006772.2(SYNGAP1):c.2970C>T (p.Ser990=) http://identifiers.org/clinvar/130530 ^@ NM_006772.2(SYNGAP1):c.3344T>C (p.Ile1115Thr) http://identifiers.org/clinvar/130531 ^@ NM_006772.2(SYNGAP1):c.84T>C (p.Ser28=) http://identifiers.org/clinvar/130532 ^@ NM_003179.2(SYP):c.869G>A (p.Gly290Glu) http://identifiers.org/clinvar/130533 ^@ NM_001146261.2(SYT14):c.1554T>C (p.Tyr518=) http://identifiers.org/clinvar/130534 ^@ NM_020705.2(TBC1D24):c.1125-6C>T http://identifiers.org/clinvar/130535 ^@ NM_020705.2(TBC1D24):c.1308C>T (p.Tyr436=) http://identifiers.org/clinvar/130536 ^@ NM_020705.2(TBC1D24):c.1422G>A (p.Ser474=) http://identifiers.org/clinvar/130537 ^@ NM_020705.2(TBC1D24):c.1482G>A (p.Ala494=) http://identifiers.org/clinvar/130538 ^@ NM_020705.2(TBC1D24):c.1491C>T (p.Ser497=) http://identifiers.org/clinvar/130539 ^@ NM_020705.2(TBC1D24):c.207T>C (p.Pro69=) http://identifiers.org/clinvar/130540 ^@ NM_020705.2(TBC1D24):c.641G>A (p.Arg214His) http://identifiers.org/clinvar/130541 ^@ NM_020705.2(TBC1D24):c.997A>G (p.Asn333Asp) http://identifiers.org/clinvar/130542 ^@ NM_014832.4(TBC1D4):c.1587C>T (p.His529=) http://identifiers.org/clinvar/130543 ^@ NM_014832.4(TBC1D4):c.1810T>G (p.Tyr604Asp) http://identifiers.org/clinvar/130544 ^@ NM_014832.4(TBC1D4):c.3356T>C (p.Val1119Ala) http://identifiers.org/clinvar/130545 ^@ NM_014832.4(TBC1D4):c.1611T>G (p.Ser537=) http://identifiers.org/clinvar/130546 ^@ NM_014832.4(TBC1D4):c.2050C>G (p.Arg684Gly) http://identifiers.org/clinvar/130547 ^@ NM_014832.4(TBC1D4):c.2254A>G (p.Thr752Ala) http://identifiers.org/clinvar/130548 ^@ NM_014832.4(TBC1D4):c.2384-3C>T http://identifiers.org/clinvar/130549 ^@ NM_014832.4(TBC1D4):c.2455G>A (p.Val819Ile) http://identifiers.org/clinvar/130550 ^@ NM_014832.4(TBC1D4):c.2901C>T (p.Leu967=) http://identifiers.org/clinvar/130551 ^@ NM_014832.4(TBC1D4):c.302C>T (p.Ala101Val) http://identifiers.org/clinvar/130552 ^@ NM_014832.4(TBC1D4):c.3440C>T (p.Thr1147Met) http://identifiers.org/clinvar/130553 ^@ NM_014832.4(TBC1D4):c.3617A>G (p.Asn1206Ser) http://identifiers.org/clinvar/130554 ^@ NM_014832.4(TBC1D4):c.498+9G>A http://identifiers.org/clinvar/130555 ^@ NM_014832.4(TBC1D4):c.606C>T (p.Phe202=) http://identifiers.org/clinvar/130556 ^@ NM_014832.4(TBC1D4):c.723G>C (p.Gly241=) http://identifiers.org/clinvar/130557 ^@ NM_014832.4(TBC1D4):c.84C>G (p.Pro28=) http://identifiers.org/clinvar/130558 ^@ NM_003194.4(TBP):c.216A>G (p.Gln72=) http://identifiers.org/clinvar/130559 ^@ NM_003194.4(TBP):c.223_281del59ins53 (p.?) http://identifiers.org/clinvar/130560 ^@ NM_003194.4(TBP):c.228G>A (p.Gln76=) http://identifiers.org/clinvar/130561 ^@ NM_003194.4(TBP):c.771T>C (p.Asn257=) http://identifiers.org/clinvar/130562 ^@ NM_001135243.1(TCOF1):c.1578C>T (p.Pro526=) http://identifiers.org/clinvar/130563 ^@ NM_001135243.1(TCOF1):c.162A>G (p.Gln54=) http://identifiers.org/clinvar/130564 ^@ NM_001135243.1(TCOF1):c.1761G>T (p.Gly587=) http://identifiers.org/clinvar/130565 ^@ NM_001135243.1(TCOF1):c.1842A>G (p.Ser614=) http://identifiers.org/clinvar/130566 ^@ NM_001135243.1(TCOF1):c.1993G>C (p.Ala665Pro) http://identifiers.org/clinvar/130567 ^@ NM_001135243.1(TCOF1):c.2094A>G (p.Glu698=) http://identifiers.org/clinvar/130568 ^@ NM_001135243.1(TCOF1):c.2245C>T (p.Pro749Ser) http://identifiers.org/clinvar/130569 ^@ NM_001135243.1(TCOF1):c.2660T>C (p.Val887Ala) http://identifiers.org/clinvar/130570 ^@ NM_001135243.1(TCOF1):c.2765C>T (p.Ser922Leu) http://identifiers.org/clinvar/130571 ^@ NM_001135243.1(TCOF1):c.3527C>G (p.Pro1176Arg) http://identifiers.org/clinvar/130572 ^@ NM_001135243.1(TCOF1):c.3601-3C>T http://identifiers.org/clinvar/130573 ^@ NM_001135243.1(TCOF1):c.4050G>A (p.Ser1350=) http://identifiers.org/clinvar/130574 ^@ NM_001135243.1(TCOF1):c.4169C>T (p.Ala1390Val) http://identifiers.org/clinvar/130575 ^@ NM_001135243.1(TCOF1):c.4292G>C (p.Gly1431Ala) http://identifiers.org/clinvar/130576 ^@ NM_015631.5(TCTN3):c.193A>C (p.Thr65Pro) http://identifiers.org/clinvar/130577 ^@ NM_015631.5(TCTN3):c.603T>A (p.Thr201=) http://identifiers.org/clinvar/130578 ^@ NM_015631.5(TCTN3):c.630T>C (p.Ala210=) http://identifiers.org/clinvar/130579 ^@ NM_015631.5(TCTN3):c.925G>T (p.Ala309Ser) http://identifiers.org/clinvar/130580 ^@ NM_138501.5(TECR):c.462C>A (p.Gly154=) http://identifiers.org/clinvar/130581 ^@ NM_138501.5(TECR):c.618C>T (p.Leu206=) http://identifiers.org/clinvar/130582 ^@ NM_138501.5(TECR):c.799+6C>T http://identifiers.org/clinvar/130583 ^@ NM_138501.5(TECR):c.822C>T (p.Gly274=) http://identifiers.org/clinvar/130584 ^@ NM_198994.2(TGM6):c.1476G>A (p.Lys492=) http://identifiers.org/clinvar/130585 ^@ NM_198994.2(TGM6):c.172A>G (p.Met58Val) http://identifiers.org/clinvar/130586 ^@ NM_016464.4(TMEM138):c.261G>A (p.Val87=) http://identifiers.org/clinvar/130587 ^@ NM_001077418.2(TMEM231):c.16C>G (p.Leu6Val) http://identifiers.org/clinvar/130588 ^@ NM_001077418.2(TMEM231):c.177G>C (p.Pro59=) http://identifiers.org/clinvar/130589 ^@ NM_001077418.2(TMEM231):c.582+3A>G http://identifiers.org/clinvar/130590 ^@ NM_001077418.2(TMEM231):c.582+8C>G http://identifiers.org/clinvar/130591 ^@ NM_001077418.2(TMEM231):c.813G>A (p.Val271=) http://identifiers.org/clinvar/130592 ^@ NM_001044385.2(TMEM237):c.1096G>T (p.Ala366Ser) http://identifiers.org/clinvar/130593 ^@ NM_001044385.2(TMEM237):c.395+7A>G http://identifiers.org/clinvar/130594 ^@ NM_001044385.2(TMEM237):c.9T>G (p.Thr3=) http://identifiers.org/clinvar/130595 ^@ NM_024334.2(TMEM43):c.853C>T (p.Leu285Phe) http://identifiers.org/clinvar/130596 ^@ NM_014254.2(TMEM5):c.469G>A (p.Val157Ile) http://identifiers.org/clinvar/130597 ^@ NM_014254.2(TMEM5):c.67G>A (p.Ala23Thr) http://identifiers.org/clinvar/130598 ^@ NM_017866.5(TMEM70):c.100G>C (p.Ala34Pro) http://identifiers.org/clinvar/130599 ^@ NM_017866.5(TMEM70):c.346C>G (p.Leu116Val) http://identifiers.org/clinvar/130600 ^@ NM_017866.5(TMEM70):c.748A>G (p.Thr250Ala) http://identifiers.org/clinvar/130601 ^@ NM_017866.5(TMEM70):c.777C>G (p.Asp259Glu) http://identifiers.org/clinvar/130602 ^@ NM_003283.5(TNNT1):c.129-9T>G http://identifiers.org/clinvar/130603 ^@ NM_003283.5(TNNT1):c.33-8G>A http://identifiers.org/clinvar/130605 ^@ NM_000391.3(TPP1):c.1044C>T (p.Ala348=) http://identifiers.org/clinvar/130606 ^@ NM_000391.3(TPP1):c.1266+5G>A http://identifiers.org/clinvar/130607 ^@ NM_000391.3(TPP1):c.1494C>T (p.Pro498=) http://identifiers.org/clinvar/130608 ^@ NM_000391.3(TPP1):c.1542A>T (p.Gly514=) http://identifiers.org/clinvar/130609 ^@ NM_000391.3(TPP1):c.293C>T (p.Thr98Met) http://identifiers.org/clinvar/130610 ^@ NM_000391.3(TPP1):c.441A>G (p.Glu147=) http://identifiers.org/clinvar/130611 ^@ NM_000391.3(TPP1):c.733C>T (p.Arg245Cys) http://identifiers.org/clinvar/130612 ^@ NM_031466.7(TRAPPC9):c.1313C>T (p.Ala438Val) http://identifiers.org/clinvar/130613 ^@ NM_031466.7(TRAPPC9):c.160A>G (p.Ser54Gly) http://identifiers.org/clinvar/130614 ^@ NM_031466.7(TRAPPC9):c.1701C>T (p.Tyr567=) http://identifiers.org/clinvar/130615 ^@ NM_031466.7(TRAPPC9):c.2103G>A (p.Leu701=) http://identifiers.org/clinvar/130616 ^@ NM_031466.7(TRAPPC9):c.2834A>C (p.Asp945Ala) http://identifiers.org/clinvar/130617 ^@ NM_031466.7(TRAPPC9):c.3457G>A (p.Val1153Ile) http://identifiers.org/clinvar/130618 ^@ NM_031466.7(TRAPPC9):c.3684A>C (p.Pro1228=) http://identifiers.org/clinvar/130619 ^@ NM_031466.7(TRAPPC9):c.1274A>G (p.Tyr425Cys) http://identifiers.org/clinvar/130620 ^@ NM_031466.7(TRAPPC9):c.1488C>T (p.Ile496=) http://identifiers.org/clinvar/130621 ^@ NM_031466.7(TRAPPC9):c.1752C>T (p.Phe584=) http://identifiers.org/clinvar/130622 ^@ NM_031466.7(TRAPPC9):c.1986C>T (p.Asn662=) http://identifiers.org/clinvar/130623 ^@ NM_031466.7(TRAPPC9):c.2062+7C>T http://identifiers.org/clinvar/130624 ^@ NM_031466.7(TRAPPC9):c.2163C>T (p.Ser721=) http://identifiers.org/clinvar/130625 ^@ NM_031466.7(TRAPPC9):c.2586C>T (p.Gly862=) http://identifiers.org/clinvar/130626 ^@ NM_031466.7(TRAPPC9):c.2725+7G>A http://identifiers.org/clinvar/130627 ^@ NM_031466.7(TRAPPC9):c.2767C>T (p.Arg923Trp) http://identifiers.org/clinvar/130628 ^@ NM_031466.7(TRAPPC9):c.284+10G>A http://identifiers.org/clinvar/130629 ^@ NM_031466.7(TRAPPC9):c.3091G>A (p.Gly1031Ser) http://identifiers.org/clinvar/130630 ^@ NM_031466.7(TRAPPC9):c.3093T= (p.Gly1031=) http://identifiers.org/clinvar/130631 ^@ NM_031466.7(TRAPPC9):c.3519C>T (p.Tyr1173=) http://identifiers.org/clinvar/130632 ^@ NM_031466.7(TRAPPC9):c.3543C>T (p.Phe1181=) http://identifiers.org/clinvar/130633 ^@ NM_031466.7(TRAPPC9):c.3573+4C>T http://identifiers.org/clinvar/130634 ^@ NM_031466.7(TRAPPC9):c.501T>C (p.Gly167=) http://identifiers.org/clinvar/130635 ^@ NM_031466.7(TRAPPC9):c.582T>C (p.Phe194=) http://identifiers.org/clinvar/130636 ^@ NM_031466.7(TRAPPC9):c.651G>A (p.Gly217=) http://identifiers.org/clinvar/130637 ^@ NM_031466.7(TRAPPC9):c.661G>T (p.Glu221Ter) http://identifiers.org/clinvar/130638 ^@ NM_031466.7(TRAPPC9):c.693T>C (p.Ala231=) http://identifiers.org/clinvar/130639 ^@ NM_031466.7(TRAPPC9):c.705C>T (p.Asn235=) http://identifiers.org/clinvar/130640 ^@ NM_031466.7(TRAPPC9):c.708C>T (p.Tyr236=) http://identifiers.org/clinvar/130641 ^@ NM_031466.7(TRAPPC9):c.750C>T (p.Ile250=) http://identifiers.org/clinvar/130642 ^@ NM_031466.7(TRAPPC9):c.849G>A (p.Lys283=) http://identifiers.org/clinvar/130643 ^@ NM_000548.4(TSC2):c.2331T>C (p.His777=) http://identifiers.org/clinvar/130644 ^@ NM_004615.3(TSPAN7):c.237T>C (p.Ala79=) http://identifiers.org/clinvar/130645 ^@ NM_004615.3(TSPAN7):c.441C>T (p.Ser147=) http://identifiers.org/clinvar/130646 ^@ NM_173500.3(TTBK2):c.23T>C (p.Leu8Pro) http://identifiers.org/clinvar/130647 ^@ NM_173500.3(TTBK2):c.2592A>G (p.Glu864=) http://identifiers.org/clinvar/130648 ^@ NM_024753.4(TTC21B):c.114C>G (p.Val38=) http://identifiers.org/clinvar/130649 ^@ NM_024753.4(TTC21B):c.1387C>T (p.Pro463Ser) http://identifiers.org/clinvar/130650 ^@ NM_024753.4(TTC21B):c.1695C>T (p.Tyr565=) http://identifiers.org/clinvar/130651 ^@ NM_024753.4(TTC21B):c.1846C>T (p.Arg616Cys) http://identifiers.org/clinvar/130652 ^@ NM_024753.4(TTC21B):c.2175T>C (p.Phe725=) http://identifiers.org/clinvar/130653 ^@ NM_024753.4(TTC21B):c.2334C>T (p.Tyr778=) http://identifiers.org/clinvar/130654 ^@ NM_024753.4(TTC21B):c.2742C>T (p.Cys914=) http://identifiers.org/clinvar/130655 ^@ NM_024753.4(TTC21B):c.3519T>C (p.Thr1173=) http://identifiers.org/clinvar/130656 ^@ NM_024753.4(TTC21B):c.3797C>T (p.Pro1266Leu) http://identifiers.org/clinvar/130657 ^@ NM_024753.4(TTC21B):c.601G>A (p.Val201Met) http://identifiers.org/clinvar/130658 ^@ NM_024753.4(TTC21B):c.665A>T (p.Gln222Leu) http://identifiers.org/clinvar/130659 ^@ NM_024753.4(TTC21B):c.724G>A (p.Asp242Asn) http://identifiers.org/clinvar/130660 ^@ NM_024753.4(TTC21B):c.826A>G (p.Thr276Ala) http://identifiers.org/clinvar/130661 ^@ NM_024753.4(TTC21B):c.838A>G (p.Met280Val) http://identifiers.org/clinvar/130662 ^@ NM_133378.4(TTN):c.12064C>T (p.Arg4022Ter) http://identifiers.org/clinvar/130663 ^@ NM_133378.4(TTN):c.1297G>A (p.Val433Ile) http://identifiers.org/clinvar/130664 ^@ NM_133378.4(TTN):c.23131A>G (p.Ile7711Val) http://identifiers.org/clinvar/130665 ^@ NM_133378.4(TTN):c.30418_30438del21 (p.Val10140_Glu10146del) http://identifiers.org/clinvar/130666 ^@ NM_133378.4(TTN):c.32854G>C (p.Val10952Leu) http://identifiers.org/clinvar/130667 ^@ NM_133378.4(TTN):c.40251A>G (p.Pro13417=) http://identifiers.org/clinvar/130668 ^@ NM_133378.4(TTN):c.42240G>A (p.Lys14080=) http://identifiers.org/clinvar/130669 ^@ NM_133378.4(TTN):c.44304C>G (p.Val14768=) http://identifiers.org/clinvar/130670 ^@ NM_133378.4(TTN):c.44435A>T (p.Asp14812Val) http://identifiers.org/clinvar/130671 ^@ NM_133378.4(TTN):c.48225A>G (p.Gln16075=) http://identifiers.org/clinvar/130672 ^@ NM_133378.4(TTN):c.49569C>T (p.Asp16523=) http://identifiers.org/clinvar/130673 ^@ NM_133378.4(TTN):c.5047C>T (p.Arg1683Ter) http://identifiers.org/clinvar/130674 ^@ NM_133378.4(TTN):c.51543C>T (p.Asp17181=) http://identifiers.org/clinvar/130675 ^@ NM_133378.4(TTN):c.51544G>A (p.Gly17182Ser) http://identifiers.org/clinvar/130676 ^@ NM_133378.4(TTN):c.56777C>T (p.Pro18926Leu) http://identifiers.org/clinvar/130677 ^@ NM_133378.4(TTN):c.61102_61104delATT (p.Ile20368del) http://identifiers.org/clinvar/130678 ^@ NM_133378.4(TTN):c.64137G>C (p.Lys21379Asn) http://identifiers.org/clinvar/130679 ^@ NM_133378.4(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186Cysfs) http://identifiers.org/clinvar/130680 ^@ NM_133378.4(TTN):c.70012G>A (p.Glu23338Lys) http://identifiers.org/clinvar/130681 ^@ NM_133378.4(TTN):c.71192T>A (p.Val23731Asp) http://identifiers.org/clinvar/130682 ^@ NM_133378.4(TTN):c.72618C>T (p.Ala24206=) http://identifiers.org/clinvar/130683 ^@ NM_133378.4(TTN):c.82934T>C (p.Ile27645Thr) http://identifiers.org/clinvar/130684 ^@ NM_133378.4(TTN):c.89874C>T (p.Asp29958=) http://identifiers.org/clinvar/130685 ^@ NM_133378.4(TTN):c.89969G>A (p.Arg29990Gln) http://identifiers.org/clinvar/130686 ^@ NM_133378.4(TTN):c.90902G>C (p.Arg30301Pro) http://identifiers.org/clinvar/130687 ^@ NM_133378.4(TTN):c.92611T>C (p.Trp30871Arg) http://identifiers.org/clinvar/130688 ^@ NM_133378.4(TTN):c.9338G>A (p.Arg3113His) http://identifiers.org/clinvar/130689 ^@ NM_133378.4(TTN):c.95259C>T (p.Asn31753=) http://identifiers.org/clinvar/130690 ^@ NM_133378.4(TTN):c.95443G>C (p.Glu31815Gln) http://identifiers.org/clinvar/130691 ^@ NM_006765.3(TUSC3):c.1028+8C>G http://identifiers.org/clinvar/130692 ^@ NM_006765.3(TUSC3):c.193A>G (p.Ile65Val) http://identifiers.org/clinvar/130693 ^@ NM_001953.4(TYMP):c.1412C>T (p.Ser471Leu) http://identifiers.org/clinvar/130694 ^@ NM_001953.4(TYMP):c.972C>T (p.Ala324=) http://identifiers.org/clinvar/130695 ^@ NM_003355.2(UCP2):c.582G>A (p.Leu194=) http://identifiers.org/clinvar/130696 ^@ NM_003355.2(UCP2):c.750C>T (p.Tyr250=) http://identifiers.org/clinvar/130697 ^@ NM_003355.2(UCP2):c.164C>T (p.Ala55Val) http://identifiers.org/clinvar/130698 ^@ NM_144639.2(UROC1):c.1056C>T (p.Gly352=) http://identifiers.org/clinvar/130699 ^@ NM_144639.2(UROC1):c.1845C>T (p.Ala615=) http://identifiers.org/clinvar/130700 ^@ NM_003383.4(VLDLR):c.464G>C (p.Ser155Thr) http://identifiers.org/clinvar/130701 ^@ NM_003383.4(VLDLR):c.1187-3C>T http://identifiers.org/clinvar/130702 ^@ NM_003383.4(VLDLR):c.1313G>A (p.Gly438Asp) http://identifiers.org/clinvar/130703 ^@ NM_003383.4(VLDLR):c.1458C>T (p.Ala486=) http://identifiers.org/clinvar/130704 ^@ NM_003383.4(VLDLR):c.1643A>G (p.Lys548Arg) http://identifiers.org/clinvar/130705 ^@ NM_003383.4(VLDLR):c.175G>A (p.Val59Ile) http://identifiers.org/clinvar/130706 ^@ NM_003383.4(VLDLR):c.2041C>T (p.Leu681=) http://identifiers.org/clinvar/130707 ^@ NM_003383.4(VLDLR):c.2067A>G (p.Gln689=) http://identifiers.org/clinvar/130708 ^@ NM_003383.4(VLDLR):c.2291C>T (p.Thr764Met) http://identifiers.org/clinvar/130709 ^@ NM_003383.4(VLDLR):c.2416+8G>T http://identifiers.org/clinvar/130710 ^@ NM_003383.4(VLDLR):c.24G>A (p.Ala8=) http://identifiers.org/clinvar/130711 ^@ NM_003383.4(VLDLR):c.292G>A (p.Glu98Lys) http://identifiers.org/clinvar/130712 ^@ NM_003383.4(VLDLR):c.468C>T (p.Pro156=) http://identifiers.org/clinvar/130713 ^@ NM_003383.4(VLDLR):c.82+7G>A http://identifiers.org/clinvar/130714 ^@ NM_003383.4(VLDLR):c.902G>A (p.Arg301Gln) http://identifiers.org/clinvar/130715 ^@ NM_003383.4(VLDLR):c.944-5T>C http://identifiers.org/clinvar/130716 ^@ NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) http://identifiers.org/clinvar/130717 ^@ NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) http://identifiers.org/clinvar/130718 ^@ NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) http://identifiers.org/clinvar/130719 ^@ NM_017890.4(VPS13B):c.10274C>T (p.Pro3425Leu) http://identifiers.org/clinvar/130720 ^@ NM_017890.4(VPS13B):c.10553A>G (p.Asp3518Gly) http://identifiers.org/clinvar/130721 ^@ NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) http://identifiers.org/clinvar/130722 ^@ NM_017890.4(VPS13B):c.1293T>G (p.Thr431=) http://identifiers.org/clinvar/130723 ^@ NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) http://identifiers.org/clinvar/130724 ^@ NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) http://identifiers.org/clinvar/130725 ^@ NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) http://identifiers.org/clinvar/130726 ^@ NM_017890.4(VPS13B):c.5360G>A (p.Arg1787His) http://identifiers.org/clinvar/130727 ^@ NM_017890.4(VPS13B):c.5878T>G (p.Ser1960Ala) http://identifiers.org/clinvar/130728 ^@ NM_017890.4(VPS13B):c.9405+10T>A http://identifiers.org/clinvar/130729 ^@ NM_017890.4(VPS13B):c.9405+9A>G http://identifiers.org/clinvar/130730 ^@ NM_003384.2(VRK1):c.858G>T (p.Met286Ile) http://identifiers.org/clinvar/130731 ^@ NM_003384.2(VRK1):c.45A>G (p.Ala15=) http://identifiers.org/clinvar/130732 ^@ NM_003384.2(VRK1):c.705C>T (p.Gly235=) http://identifiers.org/clinvar/130733 ^@ NM_001163809.1(WDR81):c.1716C>T (p.His572=) http://identifiers.org/clinvar/130734 ^@ NM_001163809.1(WDR81):c.1955C>T (p.Pro652Leu) http://identifiers.org/clinvar/130735 ^@ NM_001163809.1(WDR81):c.2142T>C (p.Gly714=) http://identifiers.org/clinvar/130736 ^@ NM_001163809.1(WDR81):c.2331A>G (p.Leu777=) http://identifiers.org/clinvar/130737 ^@ NM_001163809.1(WDR81):c.2739G>A (p.Leu913=) http://identifiers.org/clinvar/130738 ^@ NM_001163809.1(WDR81):c.3831C>T (p.Ala1277=) http://identifiers.org/clinvar/130739 ^@ NM_001163809.1(WDR81):c.4603A>G (p.Met1535Val) http://identifiers.org/clinvar/130740 ^@ NM_001163809.1(WDR81):c.4743A>G (p.Pro1581=) http://identifiers.org/clinvar/130741 ^@ NM_001163809.1(WDR81):c.4971A>G (p.Leu1657=) http://identifiers.org/clinvar/130742 ^@ NM_001163809.1(WDR81):c.5127G>A (p.Pro1709=) http://identifiers.org/clinvar/130743 ^@ NM_001163809.1(WDR81):c.5343C>T (p.Gly1781=) http://identifiers.org/clinvar/130744 ^@ NM_001163809.1(WDR81):c.5451A>G (p.Thr1817=) http://identifiers.org/clinvar/130745 ^@ NM_001163809.1(WDR81):c.5556C>T (p.Thr1852=) http://identifiers.org/clinvar/130746 ^@ NM_001163809.1(WDR81):c.5640C>T (p.Ser1880=) http://identifiers.org/clinvar/130747 ^@ NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) http://identifiers.org/clinvar/130748 ^@ NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) http://identifiers.org/clinvar/130749 ^@ NM_006005.3(WFS1):c.2019C>T (p.Cys673=) http://identifiers.org/clinvar/130750 ^@ NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) http://identifiers.org/clinvar/130751 ^@ NM_006005.3(WFS1):c.2469C>T (p.Ile823=) http://identifiers.org/clinvar/130752 ^@ NM_006005.3(WFS1):c.9C>T (p.Ser3=) http://identifiers.org/clinvar/130753 ^@ NM_000553.4(WRN):c.1577-3C>A http://identifiers.org/clinvar/130754 ^@ NM_000553.4(WRN):c.3138+6C>T http://identifiers.org/clinvar/130755 ^@ NM_000553.4(WRN):c.3138+7G>A http://identifiers.org/clinvar/130756 ^@ NM_000553.4(WRN):c.3236C>T (p.Ser1079Leu) http://identifiers.org/clinvar/130757 ^@ NM_000553.4(WRN):c.1161G>A (p.Met387Ile) http://identifiers.org/clinvar/130758 ^@ NM_000553.4(WRN):c.2361G>T (p.Leu787=) http://identifiers.org/clinvar/130759 ^@ NM_000553.4(WRN):c.3222G>T (p.Leu1074Phe) http://identifiers.org/clinvar/130760 ^@ NM_000553.4(WRN):c.340G>A (p.Val114Ile) http://identifiers.org/clinvar/130761 ^@ NM_000553.4(WRN):c.4083C>T (p.Ser1361=) http://identifiers.org/clinvar/130762 ^@ NM_000553.4(WRN):c.4099T>C (p.Cys1367Arg) http://identifiers.org/clinvar/130763 ^@ NM_000553.4(WRN):c.513C>T (p.Cys171=) http://identifiers.org/clinvar/130764 ^@ NM_024824.4(ZC3H14):c.1522G>A (p.Val508Ile) http://identifiers.org/clinvar/130765 ^@ NM_024824.4(ZC3H14):c.1023-4T>G http://identifiers.org/clinvar/130766 ^@ NM_024824.4(ZC3H14):c.2206G>A (p.Glu736Lys) http://identifiers.org/clinvar/130767 ^@ NM_024824.4(ZC3H14):c.432-3T>C http://identifiers.org/clinvar/130768 ^@ NM_001109809.2(ZFP57):c.1086T>C (p.Thr362=) http://identifiers.org/clinvar/130769 ^@ NM_001109809.2(ZFP57):c.1118C>G (p.Ser373Cys) http://identifiers.org/clinvar/130770 ^@ NM_001109809.2(ZFP57):c.113G>A (p.Arg38Gln) http://identifiers.org/clinvar/130771 ^@ NM_001109809.2(ZFP57):c.593A>G (p.Asn198Ser) http://identifiers.org/clinvar/130772 ^@ NM_001109809.2(ZFP57):c.783C>T (p.Cys261=) http://identifiers.org/clinvar/130773 ^@ NM_001109809.2(ZFP57):c.1103A>T (p.Asp368Val) http://identifiers.org/clinvar/130774 ^@ NM_001109809.2(ZFP57):c.374G>A (p.Arg125Gln) http://identifiers.org/clinvar/130775 ^@ NM_001109809.2(ZFP57):c.559C>T (p.Arg187Cys) http://identifiers.org/clinvar/130776 ^@ NM_015346.3(ZFYVE26):c.1224G>T (p.Gly408=) http://identifiers.org/clinvar/130777 ^@ NM_015346.3(ZFYVE26):c.2559G>A (p.Leu853=) http://identifiers.org/clinvar/130778 ^@ NM_015346.3(ZFYVE26):c.3118T>A (p.Ser1040Thr) http://identifiers.org/clinvar/130779 ^@ NM_015346.3(ZFYVE26):c.3210C>G (p.Pro1070=) http://identifiers.org/clinvar/130780 ^@ NM_015346.3(ZFYVE26):c.3308C>T (p.Pro1103Leu) http://identifiers.org/clinvar/130781 ^@ NM_015346.3(ZFYVE26):c.3365C>T (p.Ala1122Val) http://identifiers.org/clinvar/130782 ^@ NM_015346.3(ZFYVE26):c.4370G>A (p.Cys1457Tyr) http://identifiers.org/clinvar/130783 ^@ NM_015346.3(ZFYVE26):c.5672A>G (p.Asn1891Ser) http://identifiers.org/clinvar/130784 ^@ NM_015346.3(ZFYVE26):c.686C>A (p.Ala229Glu) http://identifiers.org/clinvar/130785 ^@ NM_001002261.3(ZFYVE27):c.244G>A (p.Val82Ile) http://identifiers.org/clinvar/130786 ^@ NM_001002261.3(ZFYVE27):c.378G>A (p.Lys126=) http://identifiers.org/clinvar/130787 ^@ NM_001002261.3(ZFYVE27):c.413G>T (p.Gly138Val) http://identifiers.org/clinvar/130789 ^@ NM_001168379.1(ZIC4):c.1080G>C (p.Ser360=) http://identifiers.org/clinvar/130790 ^@ NM_005857.4(ZMPSTE24):c.325T>G (p.Cys109Gly) http://identifiers.org/clinvar/130791 ^@ NM_022095.3(ZNF335):c.1103-7G>A http://identifiers.org/clinvar/130792 ^@ NM_022095.3(ZNF335):c.1319G>T (p.Arg440Leu) http://identifiers.org/clinvar/130793 ^@ NM_022095.3(ZNF335):c.1486A>G (p.Lys496Glu) http://identifiers.org/clinvar/130794 ^@ NM_022095.3(ZNF335):c.1623C>T (p.His541=) http://identifiers.org/clinvar/130795 ^@ NM_022095.3(ZNF335):c.201+10C>G http://identifiers.org/clinvar/130796 ^@ NM_022095.3(ZNF335):c.2167T>G (p.Phe723Val) http://identifiers.org/clinvar/130797 ^@ NM_022095.3(ZNF335):c.2253+10G>T http://identifiers.org/clinvar/130798 ^@ NM_022095.3(ZNF335):c.2595C>A (p.Asp865Glu) http://identifiers.org/clinvar/130799 ^@ NM_022095.3(ZNF335):c.2703C>T (p.Ser901=) http://identifiers.org/clinvar/130800 ^@ NM_022095.3(ZNF335):c.2821G>A (p.Ala941Thr) http://identifiers.org/clinvar/130801 ^@ NM_022095.3(ZNF335):c.3180C>T (p.Pro1060=) http://identifiers.org/clinvar/130802 ^@ NM_022095.3(ZNF335):c.3187C>A (p.Arg1063=) http://identifiers.org/clinvar/130803 ^@ NM_022095.3(ZNF335):c.3384T>C (p.Pro1128=) http://identifiers.org/clinvar/130804 ^@ NM_022095.3(ZNF335):c.3392G>A (p.Arg1131Lys) http://identifiers.org/clinvar/130805 ^@ NM_022095.3(ZNF335):c.3507C>T (p.His1169=) http://identifiers.org/clinvar/130806 ^@ NM_022095.3(ZNF335):c.3522A>T (p.Pro1174=) http://identifiers.org/clinvar/130807 ^@ NM_022095.3(ZNF335):c.642C>T (p.Ser214=) http://identifiers.org/clinvar/130808 ^@ NM_022095.3(ZNF335):c.815-3del http://identifiers.org/clinvar/130809 ^@ NM_022095.3(ZNF335):c.826G>A (p.Ala276Thr) http://identifiers.org/clinvar/130810 ^@ NM_022095.3(ZNF335):c.881G>C (p.Ser294Thr) http://identifiers.org/clinvar/130811 ^@ NM_017757.2(ZNF407):c.1077A>G (p.Val359=) http://identifiers.org/clinvar/130812 ^@ NM_017757.2(ZNF407):c.1248T>C (p.Pro416=) http://identifiers.org/clinvar/130813 ^@ NM_017757.2(ZNF407):c.1258A>G (p.Ile420Val) http://identifiers.org/clinvar/130814 ^@ NM_017757.2(ZNF407):c.1263C>T (p.Leu421=) http://identifiers.org/clinvar/130815 ^@ NM_017757.2(ZNF407):c.1534G>A (p.Gly512Arg) http://identifiers.org/clinvar/130816 ^@ NM_017757.2(ZNF407):c.1578G>A (p.Thr526=) http://identifiers.org/clinvar/130817 ^@ NM_017757.2(ZNF407):c.181A>G (p.Ser61Gly) http://identifiers.org/clinvar/130818 ^@ NM_017757.2(ZNF407):c.206A>G (p.Asn69Ser) http://identifiers.org/clinvar/130819 ^@ NM_017757.2(ZNF407):c.2915A>C (p.Asn972Thr) http://identifiers.org/clinvar/130820 ^@ NM_017757.2(ZNF407):c.3075T>C (p.Ser1025=) http://identifiers.org/clinvar/130821 ^@ NM_017757.2(ZNF407):c.33T>C (p.Asp11=) http://identifiers.org/clinvar/130822 ^@ NM_017757.2(ZNF407):c.427G>T (p.Val143Phe) http://identifiers.org/clinvar/130823 ^@ NM_017757.2(ZNF407):c.4507T>C (p.Leu1503=) http://identifiers.org/clinvar/130824 ^@ NM_017757.2(ZNF407):c.4939A>G (p.Met1647Val) http://identifiers.org/clinvar/130825 ^@ NM_017757.2(ZNF407):c.6384G>A (p.Ala2128=) http://identifiers.org/clinvar/130826 ^@ NM_017757.2(ZNF407):c.6444G>A (p.Thr2148=) http://identifiers.org/clinvar/130827 ^@ NM_153380.3(ZNF41):c.374T>G (p.Ile125Arg) http://identifiers.org/clinvar/130828 ^@ NM_153380.3(ZNF41):c.660T>G (p.Asn220Lys) http://identifiers.org/clinvar/130830 ^@ NM_133444.2(ZNF526):c.1485G>A (p.Thr495=) http://identifiers.org/clinvar/130831 ^@ NM_133444.2(ZNF526):c.1649A>C (p.His550Pro) http://identifiers.org/clinvar/130832 ^@ NM_133444.2(ZNF526):c.501G>A (p.Thr167=) http://identifiers.org/clinvar/130833 ^@ NM_133444.2(ZNF526):c.750_752delTGA (p.Asp250del) http://identifiers.org/clinvar/130834 ^@ NM_133444.2(ZNF526):c.81G>A (p.Ser27=) http://identifiers.org/clinvar/130835 ^@ NM_133444.2(ZNF526):c.1585C>T (p.Gln529Ter) http://identifiers.org/clinvar/130836 ^@ NM_133444.2(ZNF526):c.1662C>T (p.Val554=) http://identifiers.org/clinvar/130837 ^@ NM_133444.2(ZNF526):c.281T>C (p.Val94Ala) http://identifiers.org/clinvar/130838 ^@ NM_133444.2(ZNF526):c.566C>T (p.Pro189Leu) http://identifiers.org/clinvar/130839 ^@ NM_014630.2(ZNF592):c.2238A>G (p.Gln746=) http://identifiers.org/clinvar/130840 ^@ NM_014630.2(ZNF592):c.2777G>A (p.Ser926Asn) http://identifiers.org/clinvar/130841 ^@ NM_001039891.2(ZNF674):c.1125T>G (p.His375Gln) http://identifiers.org/clinvar/130842 ^@ NM_001039891.2(ZNF674):c.1295A>G (p.His432Arg) http://identifiers.org/clinvar/130843 ^@ NM_001039891.2(ZNF674):c.1028C>T (p.Thr343Met) http://identifiers.org/clinvar/130844 ^@ NM_001039891.2(ZNF674):c.1217T>C (p.Ile406Thr) http://identifiers.org/clinvar/130845 ^@ NM_001039891.2(ZNF674):c.16-7G>A http://identifiers.org/clinvar/130846 ^@ NM_001039891.2(ZNF674):c.601C>T (p.Arg201Ter) http://identifiers.org/clinvar/130847 ^@ NM_021998.4(ZNF711):c.-27+5C>T http://identifiers.org/clinvar/130849 ^@ NM_021998.4(ZNF711):c.127_129delGTT (p.Val43del) http://identifiers.org/clinvar/130850 ^@ NM_021998.4(ZNF711):c.1326C>T (p.Val442=) http://identifiers.org/clinvar/130851 ^@ NM_021998.4(ZNF711):c.798A>G (p.Thr266=) http://identifiers.org/clinvar/130852 ^@ NM_007137.3(ZNF81):c.1264G>A (p.Ala422Thr) http://identifiers.org/clinvar/130853 ^@ NM_007137.3(ZNF81):c.18C>T (p.Asp6=) http://identifiers.org/clinvar/130854 ^@ NM_007137.3(ZNF81):c.1911G>A (p.Pro637=) http://identifiers.org/clinvar/130855 ^@ NM_007137.3(ZNF81):c.350G>T (p.Gly117Val) http://identifiers.org/clinvar/130856 ^@ NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser) http://identifiers.org/clinvar/130857 ^@ NM_007137.3(ZNF81):c.554C>T (p.Ser185Leu) http://identifiers.org/clinvar/130858 ^@ NM_007137.3(ZNF81):c.638C>A (p.Ala213Glu) http://identifiers.org/clinvar/130859 ^@ NM_007137.3(ZNF81):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/130860 ^@ NM_014832.4(TBC1D4):c.3762A>T (p.Glu1254Asp) http://identifiers.org/clinvar/130861 ^@ NM_014832.4(TBC1D4):c.3824T>C (p.Val1275Ala) http://identifiers.org/clinvar/130885 ^@ NM_000098.2(CPT2):c.534_558del25insT (p.Leu178_Ile186delinsPhe) http://identifiers.org/clinvar/130886 ^@ NM_000098.2(CPT2):c.641T>C (p.Met214Thr) http://identifiers.org/clinvar/130887 ^@ NM_000098.2(CPT2):c.983A>G (p.Asp328Gly) http://identifiers.org/clinvar/130888 ^@ NM_000098.2(CPT2):c.1145G>A (p.Arg382Lys) http://identifiers.org/clinvar/130889 ^@ NM_000098.2(CPT2):c.452G>A (p.Arg151Gln) http://identifiers.org/clinvar/130890 ^@ NM_000098.2(CPT2):c.1646G>A (p.Gly549Asp) http://identifiers.org/clinvar/130891 ^@ NM_000098.2(CPT2):c.1737delC (p.Tyr579Terfs) http://identifiers.org/clinvar/130892 ^@ NM_000098.2(CPT2):c.1923_1935delGAAGGCCTTAGAA (p.Lys642Thrfs) http://identifiers.org/clinvar/132084 ^@ NM_024989.3(PGAP1):c.589_591delCTT (p.Leu197del) http://identifiers.org/clinvar/132103 ^@ NM_015713.4(RRM2B):c.48G>A (p.Glu16=) http://identifiers.org/clinvar/132104 ^@ NM_015713.4(RRM2B):c.121C>T (p.Arg41Trp) http://identifiers.org/clinvar/132105 ^@ NM_015713.4(RRM2B):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/132106 ^@ NM_015713.4(RRM2B):c.122G>C (p.Arg41Pro) http://identifiers.org/clinvar/132107 ^@ NM_015713.4(RRM2B):c.190T>C (p.Trp64Arg) http://identifiers.org/clinvar/132108 ^@ NM_015713.4(RRM2B):c.208G>A (p.Asp70Asn) http://identifiers.org/clinvar/132109 ^@ NM_015713.4(RRM2B):c.253_255delGAG (p.Glu85del) http://identifiers.org/clinvar/132110 ^@ NM_015713.4(RRM2B):c.322-2A>C http://identifiers.org/clinvar/132112 ^@ NM_015713.4(RRM2B):c.328C>T (p.Arg110Cys) http://identifiers.org/clinvar/132113 ^@ NM_015713.4(RRM2B):c.368T>C (p.Phe123Ser) http://identifiers.org/clinvar/132114 ^@ NM_015713.4(RRM2B):c.391G>A (p.Glu131Lys) http://identifiers.org/clinvar/132115 ^@ NM_015713.4(RRM2B):c.431C>T (p.Thr144Ile) http://identifiers.org/clinvar/132116 ^@ NM_015713.4(RRM2B):c.556A>G (p.Arg186Gly) http://identifiers.org/clinvar/132117 ^@ NM_015713.4(RRM2B):c.581A>G (p.Glu194Gly) http://identifiers.org/clinvar/132118 ^@ NM_015713.4(RRM2B):c.583G>A (p.Gly195Arg) http://identifiers.org/clinvar/132119 ^@ NM_015713.4(RRM2B):c.584delG (p.Gly195Glufs) http://identifiers.org/clinvar/132121 ^@ NM_015713.4(RRM2B):c.632G>A (p.Arg211Lys) http://identifiers.org/clinvar/132122 ^@ NM_015713.4(RRM2B):c.671T>G (p.Ile224Ser) http://identifiers.org/clinvar/132123 ^@ NM_015713.4(RRM2B):c.846G>C (p.Met282Ile) http://identifiers.org/clinvar/132124 ^@ NM_015713.4(RRM2B):c.920delA (p.Asn307Ilefs) http://identifiers.org/clinvar/132125 ^@ NM_015713.4(RRM2B):c.949T>G (p.Leu317Val) http://identifiers.org/clinvar/132127 ^@ NM_015713.4(RRM2B):c.952G>T (p.Glu318Ter) http://identifiers.org/clinvar/132129 ^@ NM_015713.4(RRM2B):c.1046C>G (p.Ala349Gly) http://identifiers.org/clinvar/132130 ^@ NM_000076.2(CDKN1C):c.815T>G (p.Ile272Ser) http://identifiers.org/clinvar/132132 ^@ NM_001256850.1(TTN):c.90203C>G (p.Pro30068Arg) http://identifiers.org/clinvar/132133 ^@ NM_001256850.1(TTN):c.90211T>C (p.Cys30071Arg) http://identifiers.org/clinvar/132134 ^@ NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) http://identifiers.org/clinvar/132135 ^@ NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) http://identifiers.org/clinvar/132136 ^@ NM_001256850.1(TTN):c.90264G>C (p.Trp30088Cys) http://identifiers.org/clinvar/132137 ^@ NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) http://identifiers.org/clinvar/132138 ^@ NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) http://identifiers.org/clinvar/132139 ^@ NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) http://identifiers.org/clinvar/132140 ^@ NM_001256047.1(C19orf12):c.171_181delCGGGGGGCTGT (p.Gly58Argfs) http://identifiers.org/clinvar/132141 ^@ NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) http://identifiers.org/clinvar/132142 ^@ NM_003122.4(SPINK1):c.194+2T>C http://identifiers.org/clinvar/132143 ^@ NM_003122.4(SPINK1):c.150T>G (p.Asp50Glu) http://identifiers.org/clinvar/132144 ^@ NM_003122.4(SPINK1):c.160T>C (p.Tyr54His) http://identifiers.org/clinvar/132145 ^@ NM_003122.4(SPINK1):c.199C>T (p.Arg67Cys) http://identifiers.org/clinvar/132146 ^@ NM_000492.3(CFTR):c.1408G= (p.Val470=) http://identifiers.org/clinvar/132147 ^@ NM_000492.3(CFTR):c.54-5940_273+10250del http://identifiers.org/clinvar/132148 ^@ NM_000492.3(CFTR):c.3963-78_4242+577del http://identifiers.org/clinvar/132149 ^@ NM_007272.2(CTRC):c.217G>A (p.Ala73Thr) http://identifiers.org/clinvar/132150 ^@ NM_007272.2(CTRC):c.738_761del24 (p.Lys247_Arg254del) http://identifiers.org/clinvar/132151 ^@ NP_009203.2(CTRC):p.G60G http://identifiers.org/clinvar/132152 ^@ NP_002760.1(PRSS1):p.Cys139Ser http://identifiers.org/clinvar/132633 ^@ NM_000119.2(EPB42):c.523G>T (p.Asp175Tyr) http://identifiers.org/clinvar/132634 ^@ NM_000119.2(EPB42):c.920C>T (p.Thr307Ile) http://identifiers.org/clinvar/132635 ^@ NM_000119.2(EPB42):c.949C>T (p.Arg317Cys) http://identifiers.org/clinvar/132636 ^@ NM_000119.2(EPB42):c.950delG (p.Arg317Profs) http://identifiers.org/clinvar/132637 ^@ NM_000119.2(EPB42):c.1699G>A (p.Ala567Thr) http://identifiers.org/clinvar/132638 ^@ NM_000119.2(EPB42):c.286+6T>A http://identifiers.org/clinvar/132643 ^@ NM_015965.6(NDUFA13):c.170G>A (p.Arg57His) http://identifiers.org/clinvar/132644 ^@ NG_008939.1:g.883_8934del8052 http://identifiers.org/clinvar/132645 ^@ NM_023110.2(FGFR1):c.443G>A (p.Arg148His) http://identifiers.org/clinvar/132646 ^@ NM_023110.2(FGFR1):c.790A>C (p.Asn264His) http://identifiers.org/clinvar/132647 ^@ NM_023110.2(FGFR1):c.1460G>A (p.Gly487Asp) http://identifiers.org/clinvar/132648 ^@ NM_023110.2(FGFR1):c.2084C>T (p.Thr695Ile) http://identifiers.org/clinvar/132649 ^@ NM_000218.2(KCNQ1):c.1071G>Y (p.Gln357His) http://identifiers.org/clinvar/132650 ^@ NM_000219.5(KCNE1):c.107G>A (p.Arg36His) http://identifiers.org/clinvar/132651 ^@ NM_000219.5(KCNE1):c.112A>G (p.Ser38Gly) http://identifiers.org/clinvar/132652 ^@ NM_000219.5(KCNE1):c.115G>A (p.Asp39Asn) http://identifiers.org/clinvar/132653 ^@ NM_000219.5(KCNE1):c.139G>T (p.Val47Phe) http://identifiers.org/clinvar/132654 ^@ NM_000219.5(KCNE1):c.154G>A (p.Gly52Arg) http://identifiers.org/clinvar/132655 ^@ NM_000219.5(KCNE1):c.155G>C (p.Gly52Ala) http://identifiers.org/clinvar/132656 ^@ NM_000219.5(KCNE1):c.158T>C (p.Phe53Ser) http://identifiers.org/clinvar/132657 ^@ NM_000219.5(KCNE1):c.163G>A (p.Gly55Ser) http://identifiers.org/clinvar/132658 ^@ NM_000219.5(KCNE1):c.172A>C (p.Thr58Pro) http://identifiers.org/clinvar/132659 ^@ NM_000219.5(KCNE1):c.176T>C (p.Leu59Pro) http://identifiers.org/clinvar/132660 ^@ NM_000219.5(KCNE1):c.199C>T (p.Arg67Cys) http://identifiers.org/clinvar/132661 ^@ NM_000219.5(KCNE1):c.200G>A (p.Arg67His) http://identifiers.org/clinvar/132662 ^@ NM_000219.5(KCNE1):c.206A>G (p.Lys69Arg) http://identifiers.org/clinvar/132663 ^@ NM_000219.5(KCNE1):c.209A>T (p.Lys70Met) http://identifiers.org/clinvar/132665 ^@ NM_000219.5(KCNE1):c.210G>C (p.Lys70Asn) http://identifiers.org/clinvar/132666 ^@ NM_000219.5(KCNE1):c.220T>G (p.Ser74Ala) http://identifiers.org/clinvar/132669 ^@ NM_000219.5(KCNE1):c.235A>G (p.Asn79Asp) http://identifiers.org/clinvar/132670 ^@ NM_000219.5(KCNE1):c.23C>T (p.Ala8Val) http://identifiers.org/clinvar/132671 ^@ NM_000219.5(KCNE1):c.242A>G (p.Tyr81Cys) http://identifiers.org/clinvar/132672 ^@ NM_000219.5(KCNE1):c.242A>T (p.Tyr81Phe) http://identifiers.org/clinvar/132673 ^@ NM_000219.5(KCNE1):c.247G>A (p.Glu83Lys) http://identifiers.org/clinvar/132675 ^@ NM_000219.5(KCNE1):c.259T>C (p.Trp87Arg) http://identifiers.org/clinvar/132676 ^@ NM_000219.5(KCNE1):c.292C>T (p.Arg98Trp) http://identifiers.org/clinvar/132677 ^@ NM_000219.5(KCNE1):c.29C>T (p.Thr10Met) http://identifiers.org/clinvar/132678 ^@ NM_000219.5(KCNE1):c.325G>A (p.Val109Ile) http://identifiers.org/clinvar/132679 ^@ NM_000219.5(KCNE1):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/132680 ^@ NM_000219.5(KCNE1):c.379C>A (p.Pro127Thr) http://identifiers.org/clinvar/132681 ^@ NM_000219.5(KCNE1):c.59C>T (p.Thr20Ile) http://identifiers.org/clinvar/132682 ^@ NM_000219.5(KCNE1):c.83C>T (p.Ser28Leu) http://identifiers.org/clinvar/132683 ^@ NM_000219.5(KCNE1):c.95G>A (p.Arg32His) http://identifiers.org/clinvar/132684 ^@ NM_000264.3(PTCH1):c.-6_-4dupGGC http://identifiers.org/clinvar/132685 ^@ NM_000051.3(ATM):c.544G>C (p.Val182Leu) http://identifiers.org/clinvar/132686 ^@ NM_002485.4(NBN):c.1914+9C>T http://identifiers.org/clinvar/132687 ^@ NM_000059.3(BRCA2):c.1272A>G (p.Ser424=) http://identifiers.org/clinvar/132688 ^@ NM_000038.5(APC):c.4893T>C (p.Ser1631=) http://identifiers.org/clinvar/132689 ^@ NM_001127500.2(MET):c.3921C>T (p.Thr1307=) http://identifiers.org/clinvar/132690 ^@ NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) http://identifiers.org/clinvar/132691 ^@ NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) http://identifiers.org/clinvar/132692 ^@ NM_004360.4(CDH1):c.531+10G>C http://identifiers.org/clinvar/132693 ^@ NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) http://identifiers.org/clinvar/132694 ^@ NM_001127500.2(MET):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/132695 ^@ NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) http://identifiers.org/clinvar/132696 ^@ NM_000051.3(ATM):c.8786+8A>C http://identifiers.org/clinvar/132697 ^@ NM_000249.3(MLH1):c.1074G>A (p.Glu358=) http://identifiers.org/clinvar/132698 ^@ NM_000264.3(PTCH1):c.2814G>A (p.Gln938=) http://identifiers.org/clinvar/132699 ^@ NM_000264.3(PTCH1):c.2199A>G (p.Ser733=) http://identifiers.org/clinvar/132700 ^@ NM_000264.3(PTCH1):c.1641C>T (p.Ser547=) http://identifiers.org/clinvar/132701 ^@ NM_002485.4(NBN):c.1419A>G (p.Gln473=) http://identifiers.org/clinvar/132702 ^@ NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) http://identifiers.org/clinvar/132703 ^@ NM_001128425.1(MUTYH):c.998-9C>T http://identifiers.org/clinvar/132704 ^@ NM_007294.3(BRCA1):c.5152+20T>A http://identifiers.org/clinvar/132705 ^@ NM_000038.5(APC):c.4326T>A (p.Pro1442=) http://identifiers.org/clinvar/132706 ^@ NM_000051.3(ATM):c.5497-8T>C http://identifiers.org/clinvar/132707 ^@ NM_000551.3(VHL):c.104C>A (p.Ala35Asp) http://identifiers.org/clinvar/132708 ^@ NM_000546.5(TP53):c.108G>A (p.Pro36=) http://identifiers.org/clinvar/132709 ^@ NM_004360.4(CDH1):c.715G>A (p.Gly239Arg) http://identifiers.org/clinvar/132710 ^@ NM_000179.2(MSH6):c.1367G>A (p.Trp456Ter) http://identifiers.org/clinvar/132711 ^@ NM_000038.5(APC):c.8319T>G (p.Pro2773=) http://identifiers.org/clinvar/132712 ^@ NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala) http://identifiers.org/clinvar/132713 ^@ NM_020975.4(RET):c.1264-5C>T http://identifiers.org/clinvar/132714 ^@ NM_000051.3(ATM):c.1254A>G (p.Gln418=) http://identifiers.org/clinvar/132715 ^@ NM_000051.3(ATM):c.4042T>C (p.Leu1348=) http://identifiers.org/clinvar/132716 ^@ NM_003122.4(SPINK1):c.200G>A (p.Arg67His) http://identifiers.org/clinvar/132717 ^@ NM_001127500.2(MET):c.2271G>T (p.Trp757Cys) http://identifiers.org/clinvar/132718 ^@ NM_000038.5(APC):c.3663T>C (p.Pro1221=) http://identifiers.org/clinvar/132719 ^@ NM_000264.3(PTCH1):c.318C>T (p.Leu106=) http://identifiers.org/clinvar/132720 ^@ NM_004360.4(CDH1):c.345G>A (p.Thr115=) http://identifiers.org/clinvar/132721 ^@ NM_058216.2(RAD51C):c.376G>A (p.Ala126Thr) http://identifiers.org/clinvar/132722 ^@ NM_000038.5(APC):c.1441G>A (p.Val481Met) http://identifiers.org/clinvar/132723 ^@ NM_000264.3(PTCH1):c.3947A>G (p.Tyr1316Cys) http://identifiers.org/clinvar/132724 ^@ NM_020975.4(RET):c.2976G>A (p.Pro992=) http://identifiers.org/clinvar/132725 ^@ NM_000051.3(ATM):c.3369A>G (p.Ala1123=) http://identifiers.org/clinvar/132726 ^@ NM_000264.3(PTCH1):c.735A>G (p.Thr245=) http://identifiers.org/clinvar/132727 ^@ NM_020975.4(RET):c.3057G>A (p.Ala1019=) http://identifiers.org/clinvar/132728 ^@ NM_000059.3(BRCA2):c.(?_-1)_67+?del http://identifiers.org/clinvar/132730 ^@ NM_000535.6(PMS2):c.23+10G>C http://identifiers.org/clinvar/132731 ^@ NM_000264.3(PTCH1):c.3907C>T (p.Arg1303Cys) http://identifiers.org/clinvar/132732 ^@ NM_000038.5(APC):c.689G>A (p.Arg230His) http://identifiers.org/clinvar/132733 ^@ NM_000038.5(APC):c.6349C>A (p.Gln2117Lys) http://identifiers.org/clinvar/132734 ^@ NM_002485.4(NBN):c.1129T>G (p.Leu377Val) http://identifiers.org/clinvar/132735 ^@ NM_000264.3(PTCH1):c.4251C>T (p.His1417=) http://identifiers.org/clinvar/132736 ^@ NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) http://identifiers.org/clinvar/132737 ^@ NM_000038.5(APC):c.6525A>G (p.Thr2175=) http://identifiers.org/clinvar/132738 ^@ NM_000264.3(PTCH1):c.3889C>T (p.Arg1297Trp) http://identifiers.org/clinvar/132739 ^@ NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) http://identifiers.org/clinvar/132740 ^@ NM_130799.2(MEN1):c.597C>T (p.His199=) http://identifiers.org/clinvar/132741 ^@ NM_001127500.2(MET):c.776T>C (p.Ile259Thr) http://identifiers.org/clinvar/132742 ^@ NM_001127500.2(MET):c.3222T>C (p.Ser1074=) http://identifiers.org/clinvar/132743 ^@ NM_000059.3(BRCA2):c.2598A>T (p.Glu866Asp) http://identifiers.org/clinvar/132744 ^@ NM_002485.4(NBN):c.381T>C (p.Ala127=) http://identifiers.org/clinvar/132745 ^@ NM_005359.5(SMAD4):c.1392C>T (p.Ala464=) http://identifiers.org/clinvar/132746 ^@ NM_016081.3(PALLD):c.2391A>G (p.Thr797=) http://identifiers.org/clinvar/132747 ^@ NM_000038.5(APC):c.7204A>T (p.Asn2402Tyr) http://identifiers.org/clinvar/132748 ^@ NM_002354.2(EPCAM):c.515C>T (p.Thr172Met) http://identifiers.org/clinvar/132749 ^@ NM_000038.5(APC):c.3374T>C (p.Val1125Ala) http://identifiers.org/clinvar/132750 ^@ NM_000051.3(ATM):c.5055C>T (p.Thr1685=) http://identifiers.org/clinvar/132751 ^@ NM_024675.3(PALB2):c.1054G>C (p.Glu352Gln) http://identifiers.org/clinvar/132752 ^@ NM_032043.2(BRIP1):c.1936-4C>T http://identifiers.org/clinvar/132753 ^@ NM_000264.3(PTCH1):c.3919C>T (p.Pro1307Ser) http://identifiers.org/clinvar/132754 ^@ NM_000546.5(TP53):c.885T>C (p.Pro295=) http://identifiers.org/clinvar/132755 ^@ NM_002485.4(NBN):c.1373A>G (p.Tyr458Cys) http://identifiers.org/clinvar/132756 ^@ NM_000038.5(APC):c.8038C>G (p.Pro2680Ala) http://identifiers.org/clinvar/132757 ^@ NM_000051.3(ATM):c.162T>C (p.Tyr54=) http://identifiers.org/clinvar/132758 ^@ NM_000249.3(MLH1):c.307-10T>C http://identifiers.org/clinvar/132759 ^@ NM_000059.3(BRCA2):c.704A>G (p.Asn235Ser) http://identifiers.org/clinvar/132760 ^@ NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) http://identifiers.org/clinvar/132761 ^@ NM_002354.2(EPCAM):c.492-5T>C http://identifiers.org/clinvar/132762 ^@ NM_020975.4(RET):c.1702G>A (p.Gly568Ser) http://identifiers.org/clinvar/132763 ^@ NM_000038.5(APC):c.3165A>T (p.Ile1055=) http://identifiers.org/clinvar/132764 ^@ NM_000059.3(BRCA2):c.516+14C>T http://identifiers.org/clinvar/132765 ^@ NM_001127500.2(MET):c.1659C>T (p.Ser553=) http://identifiers.org/clinvar/132766 ^@ NM_002485.4(NBN):c.1398-10dupT http://identifiers.org/clinvar/132767 ^@ NM_005359.5(SMAD4):c.228A>G (p.Arg76=) http://identifiers.org/clinvar/132768 ^@ NM_002354.2(EPCAM):c.299A>G (p.Asp100Gly) http://identifiers.org/clinvar/132769 ^@ NM_004360.4(CDH1):c.164T>G (p.Val55Gly) http://identifiers.org/clinvar/132770 ^@ NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) http://identifiers.org/clinvar/132771 ^@ NM_000179.2(MSH6):c.1094G>C (p.Trp365Ser) http://identifiers.org/clinvar/132772 ^@ NM_000179.2(MSH6):c.3173-10C>T http://identifiers.org/clinvar/132773 ^@ NM_001127500.2(MET):c.1233G>A (p.Ala411=) http://identifiers.org/clinvar/132775 ^@ NM_000773.3(CYP2E1):c.-1295G>C http://identifiers.org/clinvar/132776 ^@ NM_000773.3(CYP2E1):c.-1055C>T http://identifiers.org/clinvar/132777 ^@ NM_007294.3(BRCA1):c.*1287C>T http://identifiers.org/clinvar/132778 ^@ NM_007294.3(BRCA1):c.*781C>T http://identifiers.org/clinvar/132779 ^@ NM_000059.3(BRCA2):c.4563A>G (p.Leu1521=) http://identifiers.org/clinvar/132780 ^@ NM_000059.3(BRCA2):c.6513G>C (p.Val2171=) http://identifiers.org/clinvar/132781 ^@ NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) http://identifiers.org/clinvar/132782 ^@ NM_000059.3(BRCA2):c.1909+22delT http://identifiers.org/clinvar/132783 ^@ NM_001300.5(KLF6):c.*46A>T http://identifiers.org/clinvar/132784 ^@ NM_001300.5(KLF6):c.*62G>A http://identifiers.org/clinvar/132785 ^@ NM_001300.5(KLF6):c.496C>T (p.Pro166Ser) http://identifiers.org/clinvar/132786 ^@ NM_001300.5(KLF6):c.603G>A (p.Arg201=) http://identifiers.org/clinvar/132787 ^@ NM_001300.5(KLF6):c.800+21C>T http://identifiers.org/clinvar/132788 ^@ NM_001300.5(KLF6):c.800+34G>A http://identifiers.org/clinvar/132789 ^@ NM_001818.3(AKR1C4):c.447+9T>G http://identifiers.org/clinvar/132790 ^@ NM_003739.5(AKR1C3):c.643G>A (p.Ala215Thr) http://identifiers.org/clinvar/132791 ^@ NM_001845.5(COL4A1):c.3976G>A (p.Gly1326Arg) http://identifiers.org/clinvar/132792 ^@ NM_004714.2(DYRK1B):c.304C>T (p.Arg102Cys) http://identifiers.org/clinvar/132793 ^@ NM_004714.2(DYRK1B):c.269A>C (p.His90Pro) http://identifiers.org/clinvar/132794 ^@ NM_017890.4(VPS13B):c.5983+2dupT http://identifiers.org/clinvar/132795 ^@ NM_017890.4(VPS13B):c.11119+2T>C http://identifiers.org/clinvar/132796 ^@ NG_007943.1:g.(43089_43830)_(47717_51712)dup http://identifiers.org/clinvar/132797 ^@ NM_001615.3(ACTG2):c.442C>A (p.Arg148Ser) http://identifiers.org/clinvar/132798 ^@ NM_001615.3(ACTG2):c.533G>T (p.Arg178Leu) http://identifiers.org/clinvar/132799 ^@ NM_001615.3(ACTG2):c.118C>T (p.Arg40Cys) http://identifiers.org/clinvar/132800 ^@ NM_001615.3(ACTG2):c.532C>T (p.Arg178Cys) http://identifiers.org/clinvar/132801 ^@ NM_001615.3(ACTG2):c.533G>A (p.Arg178His) http://identifiers.org/clinvar/132802 ^@ NM_001615.3(ACTG2):c.119G>A (p.Arg40His) http://identifiers.org/clinvar/132803 ^@ NM_001615.3(ACTG2):c.769C>T (p.Arg257Cys) http://identifiers.org/clinvar/132805 ^@ NM_001615.3(ACTG2):c.400T>A (p.Tyr134Asn) http://identifiers.org/clinvar/132806 ^@ NM_005026.3(PIK3CD):c.1002C>A (p.Asn334Lys) http://identifiers.org/clinvar/132807 ^@ NM_005026.3(PIK3CD):c.1573G>A (p.Glu525Lys) http://identifiers.org/clinvar/132808 ^@ NM_005026.3(PIK3CD):c.1246T>C (p.Cys416Arg) http://identifiers.org/clinvar/132809 ^@ NM_001257360.1(AMPD2):c.1654delG (p.Asp552Thrfs) http://identifiers.org/clinvar/132810 ^@ NM_001257360.1(AMPD2):c.2334G>C (p.Glu778Asp) http://identifiers.org/clinvar/132811 ^@ NM_001257360.1(AMPD2):c.1047C>A (p.Tyr349Ter) http://identifiers.org/clinvar/132812 ^@ NM_001257360.1(AMPD2):c.2377G>T (p.Asp793Tyr) http://identifiers.org/clinvar/132813 ^@ NM_001257360.1(AMPD2):c.2021G>A (p.Arg674His) http://identifiers.org/clinvar/132814 ^@ NM_002641.3(PIGA):c.355C>T (p.Arg119Trp) http://identifiers.org/clinvar/132815 ^@ NM_002641.3(PIGA):c.76dupT (p.Tyr26Leufs) http://identifiers.org/clinvar/132816 ^@ NM_002641.3(PIGA):c.230G>T (p.Arg77Leu) http://identifiers.org/clinvar/132817 ^@ NM_002641.3(PIGA):c.616A>T (p.Ile206Phe) http://identifiers.org/clinvar/132818 ^@ NM_002641.3(PIGA):c.1030_1032delCTT (p.Leu344del) http://identifiers.org/clinvar/132819 ^@ NM_002641.3(PIGA):c.278C>T (p.Pro93Leu) http://identifiers.org/clinvar/132820 ^@ NM_007194.3(CHEK2):c.*7T>C http://identifiers.org/clinvar/132821 ^@ NM_001077653.2(TBX20):c.-517C>T http://identifiers.org/clinvar/132822 ^@ NM_001077653.2(TBX20):c.1003+129T>C http://identifiers.org/clinvar/132823 ^@ NM_001077653.2(TBX20):c.1003+99C>T http://identifiers.org/clinvar/132824 ^@ NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro) http://identifiers.org/clinvar/132825 ^@ NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg) http://identifiers.org/clinvar/132826 ^@ NM_001077653.2(TBX20):c.1189C>T (p.Leu397=) http://identifiers.org/clinvar/132827 ^@ NM_001077653.2(TBX20):c.*12A>T http://identifiers.org/clinvar/132828 ^@ NM_001077653.2(TBX20):c.*13T>A http://identifiers.org/clinvar/132829 ^@ NM_001077653.2(TBX20):c.*48T>A http://identifiers.org/clinvar/132830 ^@ NM_001077653.2(TBX20):c.546-1223dup http://identifiers.org/clinvar/132831 ^@ NM_001077653.2(TBX20):c.655-18C>T http://identifiers.org/clinvar/132832 ^@ NM_001077653.2(TBX20):c.657A>C (p.Ile219=) http://identifiers.org/clinvar/132833 ^@ NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp) http://identifiers.org/clinvar/132834 ^@ NM_002332.2(LRP1):c.3734A>G (p.Lys1245Arg) http://identifiers.org/clinvar/132835 ^@ NM_001453.2(FOXC1):c.1338_1339insGGCGAC (p.Gly447_Gly448insAspGly) http://identifiers.org/clinvar/132836 ^@ NM_000428.2(LTBP2):c.3527-14T>C http://identifiers.org/clinvar/132837 ^@ NM_000428.2(LTBP2):c.4699A>G (p.Met1567Val) http://identifiers.org/clinvar/132838 ^@ NM_001451.2(FOXF1):c.416G>A (p.Arg139Gln) http://identifiers.org/clinvar/132848 ^@ NM_000076.2(CDKN1C):c.333dupC (p.Ala112Argfs) http://identifiers.org/clinvar/132850 ^@ NM_000076.2(CDKN1C):c.400dupG (p.Glu134Glyfs) http://identifiers.org/clinvar/132871 ^@ NC_000006.12:g.135105435A>G http://identifiers.org/clinvar/132872 ^@ NM_000243.2(MEFV):c.464G>C (p.Arg155Thr) http://identifiers.org/clinvar/132873 ^@ NM_000243.2(MEFV):c.1012G>C (p.Val338Leu) http://identifiers.org/clinvar/132874 ^@ NM_000243.2(MEFV):c.818C>T (p.Ser273Leu) http://identifiers.org/clinvar/132875 ^@ NM_176820.3(NLRP9):c.1022G>T (p.Trp341Leu) http://identifiers.org/clinvar/132876 ^@ NM_176820.3(NLRP9):c.1056G>C (p.Glu352Asp) http://identifiers.org/clinvar/132877 ^@ NM_176820.3(NLRP9):c.1218T>C (p.Tyr406=) http://identifiers.org/clinvar/132878 ^@ NM_176820.3(NLRP9):c.20C>T (p.Ser7Leu) http://identifiers.org/clinvar/132879 ^@ NM_176820.3(NLRP9):c.2330+743G>T http://identifiers.org/clinvar/132880 ^@ NM_176820.3(NLRP9):c.2502-40C>G http://identifiers.org/clinvar/132881 ^@ NM_176820.3(NLRP9):c.2672+114C>T http://identifiers.org/clinvar/132882 ^@ NM_176820.3(NLRP9):c.2752C>T (p.Leu918=) http://identifiers.org/clinvar/132883 ^@ NM_176820.3(NLRP9):c.2843+28G>A http://identifiers.org/clinvar/132884 ^@ NM_178844.3(NLRC3):c.2772-51A>G http://identifiers.org/clinvar/132885 ^@ NM_178844.2:c.3109-67T>C http://identifiers.org/clinvar/132887 ^@ NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) http://identifiers.org/clinvar/132888 ^@ NM_000271.4(NPC1):c.1030delT (p.Ser344Leufs) http://identifiers.org/clinvar/132889 ^@ NM_000271.4(NPC1):c.1502A>T (p.Asp501Val) http://identifiers.org/clinvar/132890 ^@ NM_000271.4(NPC1):c.1553G>A (p.Arg518Gln) http://identifiers.org/clinvar/132891 ^@ NM_000271.4(NPC1):c.1800delC (p.Ile601Phefs) http://identifiers.org/clinvar/132892 ^@ NM_000271.4(NPC1):c.1832A>G (p.Asp611Gly) http://identifiers.org/clinvar/132893 ^@ NM_000271.4(NPC1):c.2054T>C (p.Ile685Thr) http://identifiers.org/clinvar/132894 ^@ NM_000271.4(NPC1):c.2128C>T (p.Gln710Ter) http://identifiers.org/clinvar/132895 ^@ NM_000271.4(NPC1):c.2177G>C (p.Arg726Thr) http://identifiers.org/clinvar/132896 ^@ NM_000271.4(NPC1):c.2230_2231delGT (p.Val744Serfs) http://identifiers.org/clinvar/132897 ^@ NM_000271.4(NPC1):c.2302dupG (p.Val768Glyfs) http://identifiers.org/clinvar/132898 ^@ NM_000271.4(NPC1):c.2366G>A (p.Arg789His) http://identifiers.org/clinvar/132899 ^@ NM_000271.4(NPC1):c.2795dupA (p.Tyr932Terfs) http://identifiers.org/clinvar/132900 ^@ NM_000271.4(NPC1):c.2912-3C>G http://identifiers.org/clinvar/132901 ^@ NM_000271.4(NPC1):c.416dupC (p.Asn140Lysfs) http://identifiers.org/clinvar/132902 ^@ NM_006432.3(NPC2):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/132903 ^@ NM_031460.3(KCNK17):c.262G>A (p.Gly88Arg) http://identifiers.org/clinvar/132904 ^@ NM_031460.3(KCNK17):c.435C>T (p.Leu145=) http://identifiers.org/clinvar/132905 ^@ NM_031460.3(KCNK17):c.993C>T (p.Asp331=) http://identifiers.org/clinvar/132906 ^@ NM_198056.2(SCN5A):c.3963+1G>A http://identifiers.org/clinvar/132907 ^@ NM_000257.3(MYH7):c.3245+149C>G http://identifiers.org/clinvar/132908 ^@ NM_000257.3(MYH7):c.2686G>A (p.Asp896Asn) http://identifiers.org/clinvar/132909 ^@ NM_000257.3(MYH7):c.2496C>T (p.Leu832=) http://identifiers.org/clinvar/132910 ^@ NM_000257.3(MYH7):c.2469G>T (p.Gly823=) http://identifiers.org/clinvar/132911 ^@ NM_000257.3(MYH7):c.2366delA (p.Gln789Argfs) http://identifiers.org/clinvar/132912 ^@ NM_000257.3(MYH7):c.2181A>G (p.Pro727=) http://identifiers.org/clinvar/132913 ^@ NM_000257.3(MYH7):c.2174T>C (p.Leu725Pro) http://identifiers.org/clinvar/132914 ^@ NM_000257.3(MYH7):c.2163-1G>A http://identifiers.org/clinvar/132915 ^@ NM_000257.3(MYH7):c.2163-18G>A http://identifiers.org/clinvar/132916 ^@ NM_000257.3(MYH7):c.2051T>G (p.Met684Arg) http://identifiers.org/clinvar/132917 ^@ NM_000257.3(MYH7):c.2028delT (p.Asn676Lysfs) http://identifiers.org/clinvar/132918 ^@ NM_000257.3(MYH7):c.1956+114G>A http://identifiers.org/clinvar/132919 ^@ NM_000257.3(MYH7):c.1956+112G>A http://identifiers.org/clinvar/132920 ^@ NM_000257.3(MYH7):c.1956+2T>G http://identifiers.org/clinvar/132921 ^@ NM_000257.3(MYH7):c.1952A>G (p.His651Arg) http://identifiers.org/clinvar/132922 ^@ NM_000257.3(MYH7):c.1889-27T>A http://identifiers.org/clinvar/132923 ^@ NM_000257.3(MYH7):c.1830G>A (p.Gln610=) http://identifiers.org/clinvar/132924 ^@ NM_000257.3(MYH7):c.1788G>A (p.Lys596=) http://identifiers.org/clinvar/132925 ^@ NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys) http://identifiers.org/clinvar/132926 ^@ NM_000257.3(MYH7):c.1530C>A (p.Phe510Leu) http://identifiers.org/clinvar/132927 ^@ NM_000257.3(MYH7):c.1291G>A (p.Val431Met) http://identifiers.org/clinvar/132928 ^@ NM_000257.3(MYH7):c.1267G>A (p.Ala423Thr) http://identifiers.org/clinvar/132929 ^@ NM_000257.3(MYH7):c.1245G>A (p.Gln415=) http://identifiers.org/clinvar/132930 ^@ NM_000257.3(MYH7):c.1151C>A (p.Ser384Tyr) http://identifiers.org/clinvar/132931 ^@ NM_000257.3(MYH7):c.1101G>T (p.Lys367Asn) http://identifiers.org/clinvar/132932 ^@ NM_000257.3(MYH7):c.1084A>T (p.Met362Leu) http://identifiers.org/clinvar/132933 ^@ NM_000257.3(MYH7):c.1073A>T (p.His358Leu) http://identifiers.org/clinvar/132934 ^@ NM_000257.3(MYH7):c.640-1G>A http://identifiers.org/clinvar/132935 ^@ NM_000257.3(MYH7):c.639+31C>A http://identifiers.org/clinvar/132936 ^@ NM_000257.3(MYH7):c.639+28T>A http://identifiers.org/clinvar/132937 ^@ NM_000257.3(MYH7):c.503-4A>G http://identifiers.org/clinvar/132938 ^@ NM_000257.3(MYH7):c.503-8C>G http://identifiers.org/clinvar/132939 ^@ NM_000364.3(TNNT2):c.849G>A (p.Lys283=) http://identifiers.org/clinvar/132940 ^@ NM_001001430.2(TNNT2):c.571-1G>A http://identifiers.org/clinvar/132941 ^@ NM_000364.3(TNNT2):c.522C>T (p.Asn174=) http://identifiers.org/clinvar/132942 ^@ NM_000364.3(TNNT2):c.490-69C>T http://identifiers.org/clinvar/132943 ^@ NM_001001430.2(TNNT2):c.430C>T (p.Arg144Trp) http://identifiers.org/clinvar/132944 ^@ NM_001005862.2(ERBB2):c.2404-3C>T http://identifiers.org/clinvar/132945 ^@ NM_001005862.2(ERBB2):c.2416C>T (p.Leu806=) http://identifiers.org/clinvar/132946 ^@ NM_001005862.2(ERBB2):c.2430G>A (p.Arg810=) http://identifiers.org/clinvar/132947 ^@ NM_001005862.2(ERBB2):c.2478C>T (p.Pro826=) http://identifiers.org/clinvar/132948 ^@ NM_001005862.2(ERBB2):c.2515C>T (p.Leu839=) http://identifiers.org/clinvar/132949 ^@ NM_005228.4(EGFR):c.2544G>A (p.Pro848=) http://identifiers.org/clinvar/132950 ^@ NM_005228.4(EGFR):c.2602G>A (p.Glu868Lys) http://identifiers.org/clinvar/132951 ^@ NM_005228.4(EGFR):c.2625+8G>A http://identifiers.org/clinvar/132952 ^@ NM_004333.4(BRAF):c.1807C>T (p.Arg603Ter) http://identifiers.org/clinvar/132953 ^@ NM_006218.3(PIK3CA):c.1540-56C>T http://identifiers.org/clinvar/132954 ^@ NM_006218.3(PIK3CA):c.1571G>A (p.Arg524Lys) http://identifiers.org/clinvar/132955 ^@ NM_006218.3(PIK3CA):c.1664G>A (p.Arg555Lys) http://identifiers.org/clinvar/132956 ^@ NM_006218.3(PIK3CA):c.1664+18G>A http://identifiers.org/clinvar/132957 ^@ NM_000142.4(FGFR3):c.1887C>T (p.Asn629=) http://identifiers.org/clinvar/132958 ^@ NM_000142.4(FGFR3):c.1908C>G (p.Phe636Leu) http://identifiers.org/clinvar/132959 ^@ NM_000142.4(FGFR3):c.1935C>T (p.Leu645=) http://identifiers.org/clinvar/132960 ^@ NM_001002295.1(GATA3):c.925-16C>T http://identifiers.org/clinvar/132961 ^@ NM_001002295.1(GATA3):c.1032C>T (p.Leu344=) http://identifiers.org/clinvar/132962 ^@ NM_001002295.1:c.1482-5C>T http://identifiers.org/clinvar/132963 ^@ NM_001005862.2(ERBB2):c.3056G>A (p.Ser1019Asn) http://identifiers.org/clinvar/132964 ^@ NM_005228.4(EGFR):c.2866G>A (p.Asp956Asn) http://identifiers.org/clinvar/132965 ^@ NM_006218.3(PIK3CA):c.1769G>A (p.Trp590Ter) http://identifiers.org/clinvar/132966 ^@ NM_006218.2:c.1821+51A>T http://identifiers.org/clinvar/132967 ^@ NM_022965.3(FGFR3):c.1793G>T (p.Gly598Val) http://identifiers.org/clinvar/132968 ^@ NM_022965.3(FGFR3):c.1799G>A (p.Arg600His) http://identifiers.org/clinvar/132969 ^@ NM_033360.3(KRAS):c.176C>T (p.Ala59Val) http://identifiers.org/clinvar/132970 ^@ NM_033360.3(KRAS):c.216G>A (p.Met72Ile) http://identifiers.org/clinvar/132971 ^@ NM_033360.3(KRAS):c.219G>A (p.Arg73=) http://identifiers.org/clinvar/132972 ^@ NM_000546.5(TP53):c.666G>T (p.Pro222=) http://identifiers.org/clinvar/132973 ^@ NM_000546.5(TP53):c.886C>T (p.His296Tyr) http://identifiers.org/clinvar/132974 ^@ NM_000546.5(TP53):c.969G>A (p.Leu323=) http://identifiers.org/clinvar/132975 ^@ NM_000258.2(MYL3):c.*27G>A http://identifiers.org/clinvar/132976 ^@ NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) http://identifiers.org/clinvar/132977 ^@ NM_000432.3(MYL2):c.58A>C (p.Met20Leu) http://identifiers.org/clinvar/132978 ^@ NM_033337.2(CAV3):c.233C>A (p.Thr78Lys) http://identifiers.org/clinvar/132979 ^@ NM_152490.4(B3GALNT2):c.51_73dup23 (p.Ser25Cysfs) http://identifiers.org/clinvar/132980 ^@ NM_152490.4(B3GALNT2):c.726_727delAG (p.Val243Glufs) http://identifiers.org/clinvar/132981 ^@ NM_152490.4(B3GALNT2):c.824_825dupTT (p.Ile276Leufs) http://identifiers.org/clinvar/132982 ^@ NM_033337.2(CAV3):c.13dupG (p.Glu5Glyfs) http://identifiers.org/clinvar/132983 ^@ NM_000432.3(MYL2):c.135C>T (p.Asp45=) http://identifiers.org/clinvar/132984 ^@ NM_000432.3(MYL2):c.275-58G>A http://identifiers.org/clinvar/132985 ^@ NM_000432.3(MYL2):c.4-13T>C http://identifiers.org/clinvar/132986 ^@ NM_000258.2(MYL3):c.482-2A>G http://identifiers.org/clinvar/132987 ^@ NM_000540.2(RYR1):c.-108T>C http://identifiers.org/clinvar/132988 ^@ NM_000540.2(RYR1):c.10043G>A (p.Arg3348His) http://identifiers.org/clinvar/132989 ^@ NM_000540.2(RYR1):c.10086C>T (p.Ile3362=) http://identifiers.org/clinvar/132990 ^@ NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) http://identifiers.org/clinvar/132991 ^@ NM_000540.2(RYR1):c.1014C>A (p.Ile338=) http://identifiers.org/clinvar/132992 ^@ NM_000540.2(RYR1):c.1021G>C (p.Gly341Arg) http://identifiers.org/clinvar/132993 ^@ NM_000540.2(RYR1):c.10348-42T>G http://identifiers.org/clinvar/132995 ^@ NM_000540.2(RYR1):c.103T>C (p.Cys35Arg) http://identifiers.org/clinvar/132996 ^@ NM_000540.2(RYR1):c.10456-518T>C http://identifiers.org/clinvar/132997 ^@ NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) http://identifiers.org/clinvar/132998 ^@ NM_000540.2(RYR1):c.10627-255T>C http://identifiers.org/clinvar/132999 ^@ NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) http://identifiers.org/clinvar/133000 ^@ NM_000540.2(RYR1):c.10825-218C>G http://identifiers.org/clinvar/133001 ^@ NM_000540.2(RYR1):c.10937+39G>A http://identifiers.org/clinvar/133002 ^@ NM_000540.2(RYR1):c.10938-86A>G http://identifiers.org/clinvar/133003 ^@ NM_000540.2(RYR1):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/133004 ^@ NM_000540.2(RYR1):c.1100G>T (p.Arg367Leu) http://identifiers.org/clinvar/147996 ^@ GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1 http://identifiers.org/clinvar/147997 ^@ GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1 http://identifiers.org/clinvar/147998 ^@ GRCh38/hg38 12q24.32-24.33(chr12:127900499-129778294)x3 http://identifiers.org/clinvar/147999 ^@ GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4 http://identifiers.org/clinvar/148000 ^@ GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3 http://identifiers.org/clinvar/148002 ^@ GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3 http://identifiers.org/clinvar/148003 ^@ GRCh38/hg38 11q13.5(chr11:77104062-77324724)x1 http://identifiers.org/clinvar/148004 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 http://identifiers.org/clinvar/148005 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 http://identifiers.org/clinvar/148007 ^@ GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 http://identifiers.org/clinvar/148008 ^@ GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 http://identifiers.org/clinvar/148009 ^@ GRCh38/hg38 8q24.3(chr8:139969846-140216465)x1 http://identifiers.org/clinvar/148010 ^@ GRCh38/hg38 14q32.33(chr14:105573256-106855263)x3 http://identifiers.org/clinvar/148011 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 http://identifiers.org/clinvar/148012 ^@ GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 http://identifiers.org/clinvar/148013 ^@ GRCh38/hg38 16q24.3(chr16:90020590-90081985)x1 http://identifiers.org/clinvar/148014 ^@ GRCh38/hg38 19p13.3(chr19:259395-307776)x3 http://identifiers.org/clinvar/148015 ^@ GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1 http://identifiers.org/clinvar/148016 ^@ GRCh38/hg38 3q29(chr3:195711798-198110178)x3 http://identifiers.org/clinvar/148017 ^@ GRCh38/hg38 18p11.32(chr18:148963-1949961)x1 http://identifiers.org/clinvar/148019 ^@ GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 http://identifiers.org/clinvar/148020 ^@ GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1 http://identifiers.org/clinvar/148021 ^@ GRCh38/hg38 16p13.3(chr16:3666035-3738579)x1 http://identifiers.org/clinvar/148022 ^@ GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1 http://identifiers.org/clinvar/148023 ^@ GRCh38/hg38 Xq28(chrX:150478215-150568021)x0 http://identifiers.org/clinvar/148025 ^@ GRCh38/hg38 12q24.33(chr12:129475355-129675925)x1 http://identifiers.org/clinvar/148026 ^@ GRCh38/hg38 5p15.33(chr5:435846-981479)x3 http://identifiers.org/clinvar/148027 ^@ GRCh38/hg38 4q28.2(chr4:128877983-129510533)x1 http://identifiers.org/clinvar/148029 ^@ GRCh38/hg38 10q24.32(chr10:101492028-101682260)x3 http://identifiers.org/clinvar/148030 ^@ GRCh38/hg38 13q12.11-12.12(chr13:21164677-22802191)x3 http://identifiers.org/clinvar/148031 ^@ GRCh38/hg38 1q43(chr1:239777071-240028234)x1 http://identifiers.org/clinvar/148035 ^@ GRCh38/hg38 18q22.1-22.2(chr18:68865247-70895521)x1 http://identifiers.org/clinvar/148036 ^@ GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3 http://identifiers.org/clinvar/148037 ^@ GRCh38/hg38 3p26.1(chr3:4433667-4521002)x1 http://identifiers.org/clinvar/148038 ^@ GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 http://identifiers.org/clinvar/148040 ^@ GRCh38/hg38 16p13.3(chr16:3666035-3767968)x1 http://identifiers.org/clinvar/148043 ^@ GRCh38/hg38 Xq24(chrX:120376430-120425499)x0 http://identifiers.org/clinvar/148044 ^@ GRCh38/hg38 Xq24(chrX:120376430-120425499)x1 http://identifiers.org/clinvar/148045 ^@ GRCh38/hg38 9q34.3(chr9:137830545-137836015)x1 http://identifiers.org/clinvar/148048 ^@ GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 http://identifiers.org/clinvar/148050 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 http://identifiers.org/clinvar/148052 ^@ GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 http://identifiers.org/clinvar/148053 ^@ GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 http://identifiers.org/clinvar/148054 ^@ GRCh38/hg38 7q31.32(chr7:121461314-122882795)x1 http://identifiers.org/clinvar/148057 ^@ GRCh38/hg38 20p12.1(chr20:14586509-14719453)x1 http://identifiers.org/clinvar/148058 ^@ GRCh38/hg38 4q13.3-21.1(chr4:75289409-75573152)x1 http://identifiers.org/clinvar/148059 ^@ GRCh38/hg38 10p14(chr10:9971094-10610835)x3 http://identifiers.org/clinvar/148060 ^@ GRCh38/hg38 2p16.1(chr2:57802633-58951698)x3 http://identifiers.org/clinvar/148061 ^@ GRCh38/hg38 9q34.3(chr9:137656456-137862670)x3 http://identifiers.org/clinvar/148062 ^@ GRCh38/hg38 6q16.1(chr6:93876782-94545577)x3 http://identifiers.org/clinvar/148063 ^@ GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1 http://identifiers.org/clinvar/148065 ^@ GRCh38/hg38 9q33.1(chr9:116926140-117189936)x1 http://identifiers.org/clinvar/148068 ^@ GRCh38/hg38 7q35(chr7:146754255-147033439)x1 http://identifiers.org/clinvar/148069 ^@ GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 http://identifiers.org/clinvar/148070 ^@ GRCh38/hg38 8p11.21(chr8:40027071-40795705)x1 http://identifiers.org/clinvar/148071 ^@ GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 http://identifiers.org/clinvar/148072 ^@ GRCh38/hg38 20p12.1(chr20:16721087-17300554)x3 http://identifiers.org/clinvar/148073 ^@ GRCh38/hg38 11p15.5(chr11:2052381-2138446)x3 http://identifiers.org/clinvar/148074 ^@ GRCh38/hg38 12q24.33(chr12:130246043-130806970)x3 http://identifiers.org/clinvar/148075 ^@ GRCh38/hg38 2p24.3(chr2:15945713-15946211)x3 http://identifiers.org/clinvar/148077 ^@ GRCh38/hg38 2p24.1-23.3(chr2:23789282-24087112)x1 http://identifiers.org/clinvar/148078 ^@ GRCh38/hg38 10q21.1(chr10:53366596-56420041)x4 http://identifiers.org/clinvar/148081 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 http://identifiers.org/clinvar/148082 ^@ GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 http://identifiers.org/clinvar/148085 ^@ GRCh38/hg38 10q23.1(chr10:83533323-84046731)x1 http://identifiers.org/clinvar/148086 ^@ GRCh38/hg38 4q34.3(chr4:178568038-179277841)x1 http://identifiers.org/clinvar/148087 ^@ GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3 http://identifiers.org/clinvar/148089 ^@ GRCh38/hg38 1p31.1(chr1:69324212-70840573)x1 http://identifiers.org/clinvar/148090 ^@ GRCh38/hg38 3q27.3-28(chr3:187758581-188811242)x1 http://identifiers.org/clinvar/148091 ^@ GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1 http://identifiers.org/clinvar/148092 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/148095 ^@ GRCh38/hg38 9q21.33(chr9:84837661-85740938)x3 http://identifiers.org/clinvar/148096 ^@ GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 http://identifiers.org/clinvar/148097 ^@ GRCh38/hg38 6p25.3(chr6:259881-289174)x3 http://identifiers.org/clinvar/148098 ^@ GRCh38/hg38 6p25.3(chr6:259881-289174)x1 http://identifiers.org/clinvar/148099 ^@ GRCh38/hg38 10p11.21(chr10:34894473-35184412)x1 http://identifiers.org/clinvar/148100 ^@ GRCh38/hg38 7p22.3(chr7:10239-229852)x3 http://identifiers.org/clinvar/148101 ^@ GRCh38/hg38 7q36.3(chr7:159257125-159265304)x1 http://identifiers.org/clinvar/148102 ^@ GRCh38/hg38 5q12.1(chr5:59666684-60092698)x1 http://identifiers.org/clinvar/148103 ^@ GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3 http://identifiers.org/clinvar/148104 ^@ GRCh38/hg38 2p21(chr2:44868615-44944763)x1 http://identifiers.org/clinvar/148105 ^@ GRCh38/hg38 8p23.1(chr8:7256139-8222398)x1 http://identifiers.org/clinvar/148106 ^@ GRCh38/hg38 4q13.1(chr4:62159937-62702902)x3 http://identifiers.org/clinvar/148107 ^@ GRCh38/hg38 Xp22.31(chrX:7573548-7860183)x2 http://identifiers.org/clinvar/148108 ^@ GRCh38/hg38 6p21.2(chr6:38081809-38634288)x1 http://identifiers.org/clinvar/148109 ^@ GRCh38/hg38 6q26(chr6:163310709-163529838)x1 http://identifiers.org/clinvar/148110 ^@ GRCh38/hg38 1p36.13(chr1:16037758-16050360)x1 http://identifiers.org/clinvar/148111 ^@ GRCh38/hg38 4q22.1(chr4:91319372-92513250)x3 http://identifiers.org/clinvar/148112 ^@ GRCh38/hg38 20p11.21(chr20:25485770-25612660)x3 http://identifiers.org/clinvar/148113 ^@ GRCh38/hg38 15q15.3(chr15:43624774-43658522)x1 http://identifiers.org/clinvar/148114 ^@ GRCh38/hg38 Xq27.2(chrX:141258960-141469623)x2 http://identifiers.org/clinvar/148115 ^@ GRCh38/hg38 Xq27.2(chrX:141258960-141469623)x0 http://identifiers.org/clinvar/148116 ^@ GRCh38/hg38 Xq21.33(chrX:94367827-95121003)x2 http://identifiers.org/clinvar/148117 ^@ GRCh38/hg38 15q11.2(chr15:24259313-24493092)x1 http://identifiers.org/clinvar/148118 ^@ GRCh38/hg38 7q11.22-11.23(chr7:72576419-72815631)x1 http://identifiers.org/clinvar/148119 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23057491)x3 http://identifiers.org/clinvar/148120 ^@ GRCh38/hg38 5p15.33(chr5:648037-820360)x3 http://identifiers.org/clinvar/148121 ^@ GRCh38/hg38 6p25.3(chr6:259881-339802)x3 http://identifiers.org/clinvar/148122 ^@ GRCh38/hg38 6p25.3(chr6:259881-339802)x1 http://identifiers.org/clinvar/148123 ^@ GRCh38/hg38 14q32.33(chr14:106850520-106862111)x3 http://identifiers.org/clinvar/148126 ^@ GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 http://identifiers.org/clinvar/148127 ^@ GRCh38/hg38 13q12.11(chr13:19851311-19871180)x3 http://identifiers.org/clinvar/148128 ^@ GRCh38/hg38 15q15.3(chr15:43624774-43659103)x3 http://identifiers.org/clinvar/148131 ^@ GRCh38/hg38 Xp22.33(chrX:2823243-2881379)x2 http://identifiers.org/clinvar/148132 ^@ GRCh38/hg38 Xp21.1-11.4(chrX:37564515-37871920)x2 http://identifiers.org/clinvar/148133 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/148134 ^@ GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 http://identifiers.org/clinvar/148135 ^@ GRCh38/hg38 11p15.5(chr11:1995445-1995611)x3 http://identifiers.org/clinvar/148136 ^@ GRCh38/hg38 14q32.33(chr14:106692723-106771853)x1 http://identifiers.org/clinvar/148137 ^@ GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1 http://identifiers.org/clinvar/148138 ^@ GRCh38/hg38 18q12.2-12.3(chr18:39470895-39820312)x1 http://identifiers.org/clinvar/148139 ^@ GRCh38/hg38 Xp11.21(chrX:56280137-56368986)x3 http://identifiers.org/clinvar/148141 ^@ GRCh38/hg38 20p12.3(chr20:5491535-5781055)x3 http://identifiers.org/clinvar/148142 ^@ GRCh38/hg38 4q35.2(chr4:189164016-189792496)x1 http://identifiers.org/clinvar/148143 ^@ GRCh38/hg38 15q15.3(chr15:43559350-43656148)x3 http://identifiers.org/clinvar/148144 ^@ GRCh38/hg38 20q13.32(chr20:58887879-58890870)x3 http://identifiers.org/clinvar/148145 ^@ GRCh38/hg38 22q11.21(chr22:19760410-19761953)x3 http://identifiers.org/clinvar/148146 ^@ GRCh38/hg38 6q24.2(chr6:144007486-144007839)x3 http://identifiers.org/clinvar/148147 ^@ GRCh38/hg38 10q26.3(chr10:133465763-133564028)x3 http://identifiers.org/clinvar/148148 ^@ GRCh38/hg38 6p25.3(chr6:259881-283860)x1 http://identifiers.org/clinvar/148149 ^@ GRCh38/hg38 8q24.3(chr8:144935653-145049449)x3 http://identifiers.org/clinvar/148150 ^@ GRCh38/hg38 Xp11.23(chrX:48511468-48512678)x3 http://identifiers.org/clinvar/148151 ^@ GRCh38/hg38 Xp11.4(chrX:38629364-38688697)x2 http://identifiers.org/clinvar/148152 ^@ GRCh38/hg38 Xp11.4(chrX:38629364-38688697)x3 http://identifiers.org/clinvar/148153 ^@ GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1 http://identifiers.org/clinvar/148156 ^@ GRCh38/hg38 10q21.3(chr10:66756761-66919447)x1 http://identifiers.org/clinvar/148157 ^@ GRCh38/hg38 7q21.13(chr7:89880753-90888838)x3 http://identifiers.org/clinvar/148158 ^@ GRCh38/hg38 18p11.32(chr18:605210-1802497)x3 http://identifiers.org/clinvar/148159 ^@ GRCh38/hg38 14q31.2-31.3(chr14:83671891-84891109)x1 http://identifiers.org/clinvar/148160 ^@ GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1 http://identifiers.org/clinvar/148162 ^@ GRCh38/hg38 11p12(chr11:40975875-41663216)x1 http://identifiers.org/clinvar/148163 ^@ GRCh38/hg38 3p26.2(chr3:2898016-2930391)x1 http://identifiers.org/clinvar/148164 ^@ GRCh38/hg38 11q23.3(chr11:115991357-116726759)x3 http://identifiers.org/clinvar/148165 ^@ GRCh38/hg38 Xp11.23(chrX:48511468-48512362)x2 http://identifiers.org/clinvar/148166 ^@ GRCh38/hg38 Xq28(chrX:153689819-153690443)x2 http://identifiers.org/clinvar/148167 ^@ GRCh38/hg38 7q34(chr7:142751354-142752600)x3 http://identifiers.org/clinvar/148168 ^@ GRCh38/hg38 7q34(chr7:142750668-142753086)x3 http://identifiers.org/clinvar/148169 ^@ GRCh38/hg38 2q37.3(chr2:241914437-242066108)x1 http://identifiers.org/clinvar/148170 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35193488-35448077)x3 http://identifiers.org/clinvar/148171 ^@ GRCh38/hg38 10q21.1(chr10:53051023-54726415)x1 http://identifiers.org/clinvar/148172 ^@ GRCh38/hg38 1q21.1(chr1:143546346-143737831)x3 http://identifiers.org/clinvar/148173 ^@ GRCh38/hg38 1q21.1(chr1:143546346-143737831)x1 http://identifiers.org/clinvar/148174 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 http://identifiers.org/clinvar/148176 ^@ GRCh38/hg38 2p16.3(chr2:50999032-51087292)x1 http://identifiers.org/clinvar/148177 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 http://identifiers.org/clinvar/148178 ^@ GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3 http://identifiers.org/clinvar/148179 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3 http://identifiers.org/clinvar/148180 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 http://identifiers.org/clinvar/148181 ^@ GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 http://identifiers.org/clinvar/148183 ^@ GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1 http://identifiers.org/clinvar/148184 ^@ GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 http://identifiers.org/clinvar/148185 ^@ GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 http://identifiers.org/clinvar/148186 ^@ GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 http://identifiers.org/clinvar/148187 ^@ GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 http://identifiers.org/clinvar/148188 ^@ GRCh38/hg38 22q11.1-11.21(chr22:10874347-15903760)x3 http://identifiers.org/clinvar/148189 ^@ GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 http://identifiers.org/clinvar/148190 ^@ GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1 http://identifiers.org/clinvar/148191 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1 http://identifiers.org/clinvar/148192 ^@ GRCh38/hg38 16p13.3(chr16:6224663-6353108)x1 http://identifiers.org/clinvar/148193 ^@ GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1 http://identifiers.org/clinvar/148194 ^@ GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 http://identifiers.org/clinvar/148196 ^@ GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 http://identifiers.org/clinvar/148197 ^@ GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1 http://identifiers.org/clinvar/148198 ^@ GRCh38/hg38 3q27.2-27.3(chr3:186009008-186554890)x1 http://identifiers.org/clinvar/148199 ^@ GRCh38/hg38 8p23.1(chr8:8222339-8398034)x1 http://identifiers.org/clinvar/148200 ^@ GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1 http://identifiers.org/clinvar/148201 ^@ GRCh38/hg38 Xq28(chrX:153001794-153296865)x0 http://identifiers.org/clinvar/148202 ^@ GRCh38/hg38 8p23.3(chr8:543981-655843)x1 http://identifiers.org/clinvar/148203 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:141090606-141561711)x1 http://identifiers.org/clinvar/148204 ^@ GRCh38/hg38 15q26.3(chr15:99299033-99997136)x1 http://identifiers.org/clinvar/148205 ^@ GRCh38/hg38 Xp21.1(chrX:31744885-31846776)x1 http://identifiers.org/clinvar/148206 ^@ GRCh38/hg38 9p23(chr9:10006230-11086155)x1 http://identifiers.org/clinvar/148207 ^@ GRCh38/hg38 11q14.1(chr11:84786276-84917919)x1 http://identifiers.org/clinvar/148208 ^@ GRCh38/hg38 12q21.31(chr12:80752724-80856919)x1 http://identifiers.org/clinvar/148209 ^@ GRCh38/hg38 16q24.3(chr16:89395175-89481685)x1 http://identifiers.org/clinvar/148210 ^@ GRCh38/hg38 12q24.33(chr12:131973151-132102145)x1 http://identifiers.org/clinvar/148211 ^@ GRCh38/hg38 9q21.11(chr9:69060538-69214496)x1 http://identifiers.org/clinvar/148212 ^@ GRCh38/hg38 3p21.1-14.3(chr3:54331657-54477137)x1 http://identifiers.org/clinvar/148213 ^@ GRCh38/hg38 Xp21.2(chrX:29948980-30119516)x3 http://identifiers.org/clinvar/148214 ^@ GRCh38/hg38 1p22.3(chr1:85662168-86192743)x3 http://identifiers.org/clinvar/148215 ^@ GRCh38/hg38 3p26.1(chr3:4803434-6476213)x3 http://identifiers.org/clinvar/148216 ^@ GRCh38/hg38 7q31.31(chr7:117758754-119514263)x3 http://identifiers.org/clinvar/148217 ^@ GRCh38/hg38 Xq28(chrX:154604412-154935279)x3 http://identifiers.org/clinvar/148218 ^@ GRCh38/hg38 1p32.2(chr1:57336111-57665103)x1 http://identifiers.org/clinvar/148219 ^@ GRCh38/hg38 20q13.13(chr20:47810469-48502835)x3 http://identifiers.org/clinvar/148220 ^@ GRCh38/hg38 9p21.3(chr9:20687770-21309178)x1 http://identifiers.org/clinvar/148221 ^@ GRCh38/hg38 16p13.3(chr16:6619411-6659373)x1 http://identifiers.org/clinvar/148223 ^@ GRCh38/hg38 16q23.1(chr16:75905807-76701486)x3 http://identifiers.org/clinvar/148224 ^@ GRCh38/hg38 13q12.13(chr13:25410920-25605325)x3 http://identifiers.org/clinvar/148225 ^@ GRCh38/hg38 13q21.2(chr13:60049295-60879301)x3 http://identifiers.org/clinvar/148226 ^@ GRCh38/hg38 18q21.2(chr18:54468297-55949009)x1 http://identifiers.org/clinvar/148227 ^@ GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 http://identifiers.org/clinvar/148228 ^@ GRCh38/hg38 9q33.1(chr9:117132868-119269252)x3 http://identifiers.org/clinvar/148229 ^@ GRCh38/hg38 2p16.3(chr2:50619962-50755034)x1 http://identifiers.org/clinvar/148230 ^@ GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 http://identifiers.org/clinvar/148231 ^@ GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1 http://identifiers.org/clinvar/148233 ^@ GRCh38/hg38 Xq23(chrX:110450492-111001421)x2 http://identifiers.org/clinvar/148234 ^@ GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 http://identifiers.org/clinvar/148235 ^@ GRCh38/hg38 6q22.31(chr6:118953443-120037496)x3 http://identifiers.org/clinvar/148236 ^@ GRCh38/hg38 12q24.33(chr12:132966304-133202490)x1 http://identifiers.org/clinvar/148237 ^@ GRCh38/hg38 Xq28(chrX:149804813-150311286)x4 http://identifiers.org/clinvar/148238 ^@ GRCh38/hg38 7q31.32(chr7:122685810-122731540)x1 http://identifiers.org/clinvar/148239 ^@ GRCh38/hg38 9q34.13(chr9:132018736-132237086)x1 http://identifiers.org/clinvar/148240 ^@ GRCh38/hg38 17p13.3(chr17:2842174-3102332)x1 http://identifiers.org/clinvar/148242 ^@ GRCh38/hg38 12q21.31(chr12:85228467-85675435)x1 http://identifiers.org/clinvar/148243 ^@ GRCh38/hg38 1p33(chr1:49325342-49785866)x1 http://identifiers.org/clinvar/148244 ^@ GRCh38/hg38 13q21.1(chr13:56237204-57219279)x1 http://identifiers.org/clinvar/148245 ^@ GRCh38/hg38 1q23.1(chr1:158714213-158874430)x1 http://identifiers.org/clinvar/148246 ^@ GRCh38/hg38 5q35.1(chr5:170226622-171028731)x3 http://identifiers.org/clinvar/148247 ^@ GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 http://identifiers.org/clinvar/148248 ^@ GRCh38/hg38 9p24.3(chr9:706283-1457665)x3 http://identifiers.org/clinvar/148249 ^@ GRCh38/hg38 15q11.2(chr15:24341879-24958682)x3 http://identifiers.org/clinvar/148251 ^@ GRCh38/hg38 6p12.3-12.2(chr6:51375939-51984009)x3 http://identifiers.org/clinvar/148253 ^@ GRCh38/hg38 5q21.2-21.3(chr5:104459551-105488260)x3 http://identifiers.org/clinvar/148254 ^@ GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3 http://identifiers.org/clinvar/148255 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-17459881)x3 http://identifiers.org/clinvar/148257 ^@ GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3 http://identifiers.org/clinvar/148259 ^@ GRCh38/hg38 6q27(chr6:170425647-170567808)x4 http://identifiers.org/clinvar/148260 ^@ GRCh38/hg38 4q27(chr4:121164018-122098913)x1 http://identifiers.org/clinvar/148261 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3 http://identifiers.org/clinvar/148262 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 http://identifiers.org/clinvar/148264 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 http://identifiers.org/clinvar/148265 ^@ GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 http://identifiers.org/clinvar/148266 ^@ GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 http://identifiers.org/clinvar/148267 ^@ GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 http://identifiers.org/clinvar/148268 ^@ GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 http://identifiers.org/clinvar/148269 ^@ GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 http://identifiers.org/clinvar/148270 ^@ GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 http://identifiers.org/clinvar/148271 ^@ GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 http://identifiers.org/clinvar/148273 ^@ GRCh38/hg38 7q35(chr7:146649010-146778666)x1 http://identifiers.org/clinvar/148274 ^@ GRCh38/hg38 7q11.22(chr7:69665251-70271848)x1 http://identifiers.org/clinvar/148276 ^@ GRCh38/hg38 7q35(chr7:147044014-147073985)x1 http://identifiers.org/clinvar/148277 ^@ GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3 http://identifiers.org/clinvar/148278 ^@ GRCh38/hg38 12q21.1(chr12:72426778-73114825)x1 http://identifiers.org/clinvar/148279 ^@ GRCh38/hg38 2q37.3(chr2:239083430-239094006)x1 http://identifiers.org/clinvar/148280 ^@ GRCh38/hg38 10p15.3(chr10:70478-312686)x1 http://identifiers.org/clinvar/148281 ^@ GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1 http://identifiers.org/clinvar/148282 ^@ GRCh38/hg38 10q21.3(chr10:66236291-66599736)x1 http://identifiers.org/clinvar/148283 ^@ GRCh38/hg38 5q21.2-21.3(chr5:104692058-105215854)x1 http://identifiers.org/clinvar/148284 ^@ GRCh38/hg38 16p13.3(chr16:6302849-6635698)x1 http://identifiers.org/clinvar/148285 ^@ GRCh38/hg38 Yq11.21-11.221(chrY:12084990-12742051)x2 http://identifiers.org/clinvar/148286 ^@ GRCh38/hg38 2q13(chr2:108719125-110611314)x3 http://identifiers.org/clinvar/148287 ^@ GRCh38/hg38 15q26.3(chr15:99057691-99598500)x3 http://identifiers.org/clinvar/148288 ^@ GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3 http://identifiers.org/clinvar/148289 ^@ GRCh38/hg38 7p21.3(chr7:10835790-11523056)x3 http://identifiers.org/clinvar/148290 ^@ GRCh38/hg38 Yq11.221(chrY:14775606-15303706)x2 http://identifiers.org/clinvar/148291 ^@ GRCh38/hg38 6q12(chr6:63719407-64994324)x3 http://identifiers.org/clinvar/148292 ^@ GRCh38/hg38 1q44(chr1:247389261-248472496)x3 http://identifiers.org/clinvar/148296 ^@ GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2 http://identifiers.org/clinvar/148297 ^@ GRCh38/hg38 2q11.1(chr2:95134069-95493527)x1 http://identifiers.org/clinvar/148298 ^@ GRCh38/hg38 16q23.1(chr16:78353263-78452191)x1 http://identifiers.org/clinvar/148299 ^@ GRCh38/hg38 7q22.1(chr7:98613165-98725805)x1 http://identifiers.org/clinvar/148300 ^@ GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 http://identifiers.org/clinvar/148301 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 http://identifiers.org/clinvar/148302 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 http://identifiers.org/clinvar/148303 ^@ GRCh38/hg38 13q34(chr13:111118651-114340331)x3 http://identifiers.org/clinvar/148304 ^@ GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 http://identifiers.org/clinvar/148305 ^@ GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 http://identifiers.org/clinvar/148306 ^@ GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 http://identifiers.org/clinvar/148307 ^@ GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 http://identifiers.org/clinvar/148310 ^@ GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1 http://identifiers.org/clinvar/148311 ^@ GRCh38/hg38 4p16.3(chr4:36424-1581567)x3 http://identifiers.org/clinvar/148312 ^@ GRCh38/hg38 7p12.3(chr7:48734588-48997715)x1 http://identifiers.org/clinvar/148313 ^@ GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1 http://identifiers.org/clinvar/148314 ^@ GRCh38/hg38 7q32.3(chr7:131228764-131452396)x1 http://identifiers.org/clinvar/148316 ^@ GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 http://identifiers.org/clinvar/148317 ^@ GRCh38/hg38 3q26.2(chr3:168326176-168789784)x1 http://identifiers.org/clinvar/148318 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 http://identifiers.org/clinvar/148320 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 http://identifiers.org/clinvar/148321 ^@ GRCh38/hg38 19q11-12(chr19:27362299-28388381)x3 http://identifiers.org/clinvar/148323 ^@ GRCh38/hg38 6q21(chr6:109612069-109749371)x1 http://identifiers.org/clinvar/148325 ^@ GRCh38/hg38 2q32.1(chr2:185760952-186336114)x1 http://identifiers.org/clinvar/148326 ^@ GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1 http://identifiers.org/clinvar/148327 ^@ GRCh38/hg38 16p13.3(chr16:6717241-7012011)x1 http://identifiers.org/clinvar/148328 ^@ GRCh38/hg38 3p21.1(chr3:54216287-54346411)x1 http://identifiers.org/clinvar/148330 ^@ GRCh38/hg38 3p24.1(chr3:30638613-30754170)x3 http://identifiers.org/clinvar/148331 ^@ GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3 http://identifiers.org/clinvar/148334 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3 http://identifiers.org/clinvar/148335 ^@ GRCh38/hg38 7p12.3(chr7:48198636-48524392)x1 http://identifiers.org/clinvar/148336 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 http://identifiers.org/clinvar/148337 ^@ GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1 http://identifiers.org/clinvar/148338 ^@ GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 http://identifiers.org/clinvar/148339 ^@ GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 http://identifiers.org/clinvar/148341 ^@ GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 http://identifiers.org/clinvar/148342 ^@ GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1 http://identifiers.org/clinvar/148343 ^@ GRCh38/hg38 10q24.32(chr10:101209582-101748381)x3 http://identifiers.org/clinvar/148344 ^@ GRCh38/hg38 16p13.3(chr16:7521663-7610894)x1 http://identifiers.org/clinvar/148345 ^@ GRCh38/hg38 Xp21.1(chrX:31767255-31870767)x1 http://identifiers.org/clinvar/148346 ^@ GRCh38/hg38 14q24.3(chr14:76724499-76945497)x1 http://identifiers.org/clinvar/148347 ^@ GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1 http://identifiers.org/clinvar/148348 ^@ GRCh38/hg38 6q27(chr6:170257060-170714507)x1 http://identifiers.org/clinvar/148349 ^@ GRCh38/hg38 6p24.1(chr6:12922627-13137423)x1 http://identifiers.org/clinvar/148350 ^@ GRCh38/hg38 17q24.2(chr17:66424178-66746437)x1 http://identifiers.org/clinvar/148351 ^@ GRCh38/hg38 6q22.1(chr6:116617428-116979654)x1 http://identifiers.org/clinvar/148352 ^@ GRCh38/hg38 16p13.3(chr16:6632416-6717300)x1 http://identifiers.org/clinvar/148353 ^@ GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1 http://identifiers.org/clinvar/148354 ^@ GRCh38/hg38 3p26.3(chr3:2017939-2528404)x3 http://identifiers.org/clinvar/148355 ^@ GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3 http://identifiers.org/clinvar/148356 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 http://identifiers.org/clinvar/148357 ^@ GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 http://identifiers.org/clinvar/148358 ^@ GRCh38/hg38 Xp21.1(chrX:31613037-31846776)x1 http://identifiers.org/clinvar/148359 ^@ GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 http://identifiers.org/clinvar/148360 ^@ GRCh38/hg38 2q23.1(chr2:147969499-148122112)x1 http://identifiers.org/clinvar/148361 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 http://identifiers.org/clinvar/148363 ^@ GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 http://identifiers.org/clinvar/148364 ^@ GRCh38/hg38 1p36.22(chr1:10245412-10637093)x1 http://identifiers.org/clinvar/148365 ^@ GRCh38/hg38 7q31.1(chr7:108559438-109009742)x1 http://identifiers.org/clinvar/148367 ^@ GRCh38/hg38 8p23.1(chr8:9000344-9503539)x1 http://identifiers.org/clinvar/148370 ^@ GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1 http://identifiers.org/clinvar/148371 ^@ GRCh38/hg38 20q12(chr20:41254206-41853686)x3 http://identifiers.org/clinvar/148373 ^@ GRCh38/hg38 8q23.3(chr8:113326162-113999403)x3 http://identifiers.org/clinvar/148375 ^@ GRCh38/hg38 16p13.3(chr16:6704660-7072614)x3 http://identifiers.org/clinvar/148376 ^@ GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3 http://identifiers.org/clinvar/148378 ^@ GRCh38/hg38 4q35.2(chr4:188957851-190095391)x1 http://identifiers.org/clinvar/148379 ^@ GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 http://identifiers.org/clinvar/148380 ^@ GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3 http://identifiers.org/clinvar/148381 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 http://identifiers.org/clinvar/148382 ^@ GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 http://identifiers.org/clinvar/148383 ^@ GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 http://identifiers.org/clinvar/148385 ^@ GRCh38/hg38 6q24.1(chr6:140236966-140844902)x1 http://identifiers.org/clinvar/148387 ^@ GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 http://identifiers.org/clinvar/148388 ^@ GRCh38/hg38 1q21.3(chr1:153752331-153897529)x1 http://identifiers.org/clinvar/148389 ^@ GRCh38/hg38 2q13-14.1(chr2:110649261-112379067)x3 http://identifiers.org/clinvar/148390 ^@ GRCh38/hg38 Xq11.1-11.2(chrX:63253804-63911433)x3 http://identifiers.org/clinvar/148391 ^@ GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 http://identifiers.org/clinvar/148392 ^@ GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 http://identifiers.org/clinvar/148393 ^@ GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 http://identifiers.org/clinvar/148394 ^@ GRCh38/hg38 7q36.2(chr7:153629158-154311915)x3 http://identifiers.org/clinvar/148395 ^@ GRCh38/hg38 Xp22.11(chrX:22797762-23103990)x1 http://identifiers.org/clinvar/148396 ^@ GRCh38/hg38 1p31.3(chr1:61238293-61654090)x3 http://identifiers.org/clinvar/148397 ^@ GRCh38/hg38 17q25.3(chr17:82625521-83102552)x1 http://identifiers.org/clinvar/148398 ^@ GRCh38/hg38 7p14.1(chr7:40256335-40534006)x1 http://identifiers.org/clinvar/148399 ^@ GRCh38/hg38 9q21.11-21.12(chr9:69060538-69564402)x3 http://identifiers.org/clinvar/148400 ^@ GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1 http://identifiers.org/clinvar/148401 ^@ GRCh38/hg38 5p15.33(chr5:1495239-2191346)x3 http://identifiers.org/clinvar/148402 ^@ GRCh38/hg38 22q12.2(chr22:29602475-29639153)x1 http://identifiers.org/clinvar/148403 ^@ GRCh38/hg38 1q43(chr1:242475494-243242152)x3 http://identifiers.org/clinvar/148404 ^@ GRCh38/hg38 14q23.3(chr14:65753357-66523450)x3 http://identifiers.org/clinvar/148405 ^@ GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1 http://identifiers.org/clinvar/148406 ^@ GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3 http://identifiers.org/clinvar/148407 ^@ GRCh38/hg38 10q11.23(chr10:50151274-50673230)x3 http://identifiers.org/clinvar/148408 ^@ GRCh38/hg38 5q35.3(chr5:178988364-179593557)x3 http://identifiers.org/clinvar/148409 ^@ GRCh38/hg38 Xp21.1(chrX:36808326-37533431)x2 http://identifiers.org/clinvar/148410 ^@ GRCh38/hg38 Xp22.32(chrX:5885166-5914976)x0 http://identifiers.org/clinvar/148411 ^@ GRCh38/hg38 21q21.3(chr21:26089149-26145977)x1 http://identifiers.org/clinvar/148412 ^@ GRCh38/hg38 16p13.3(chr16:6769601-6846673)x1 http://identifiers.org/clinvar/148413 ^@ GRCh38/hg38 11p15.1-14.3(chr11:21719827-22246371)x1 http://identifiers.org/clinvar/148414 ^@ GRCh38/hg38 9q21.12-21.13(chr9:70397983-71984116)x1 http://identifiers.org/clinvar/148415 ^@ GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3 http://identifiers.org/clinvar/148416 ^@ GRCh38/hg38 16p13.12(chr16:14140498-14686337)x3 http://identifiers.org/clinvar/148417 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3 http://identifiers.org/clinvar/148418 ^@ GRCh38/hg38 Xp22.33(chrX:335785-947477)x3 http://identifiers.org/clinvar/148419 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 http://identifiers.org/clinvar/148420 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 http://identifiers.org/clinvar/148421 ^@ GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 http://identifiers.org/clinvar/148422 ^@ GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1 http://identifiers.org/clinvar/148423 ^@ GRCh38/hg38 12p12.1-11.23(chr12:26202582-26720731)x3 http://identifiers.org/clinvar/148424 ^@ GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 http://identifiers.org/clinvar/148425 ^@ GRCh38/hg38 Yp11.32-11.2(chrY:10001-1223133)x0 http://identifiers.org/clinvar/148426 ^@ GRCh38/hg38 18q22.1(chr18:68029227-68848813)x3 http://identifiers.org/clinvar/148427 ^@ GRCh38/hg38 8q24.22-24.23(chr8:134886375-135796966)x3 http://identifiers.org/clinvar/148428 ^@ GRCh38/hg38 9q34.3(chr9:136405220-136608638)x1 http://identifiers.org/clinvar/148429 ^@ GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 http://identifiers.org/clinvar/148430 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 http://identifiers.org/clinvar/148432 ^@ GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1 http://identifiers.org/clinvar/148434 ^@ GRCh38/hg38 16p11.2(chr16:28850210-29032639)x1 http://identifiers.org/clinvar/148436 ^@ GRCh38/hg38 1q43(chr1:237322513-240310271)x1 http://identifiers.org/clinvar/148437 ^@ GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 http://identifiers.org/clinvar/148438 ^@ GRCh38/hg38 11p13(chr11:31070635-31535274)x1 http://identifiers.org/clinvar/148439 ^@ GRCh38/hg38 1p31.1(chr1:71633132-72092337)x1 http://identifiers.org/clinvar/148440 ^@ GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1 http://identifiers.org/clinvar/148441 ^@ GRCh38/hg38 10q23.2(chr10:86823227-86930005)x3 http://identifiers.org/clinvar/148442 ^@ GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3 http://identifiers.org/clinvar/148443 ^@ GRCh38/hg38 3p26.3(chr3:2191308-2628718)x3 http://identifiers.org/clinvar/148444 ^@ GRCh38/hg38 5q34(chr5:161925019-162133217)x3 http://identifiers.org/clinvar/148445 ^@ GRCh38/hg38 Xp22.33(chrX:2782275-3355873)x2 http://identifiers.org/clinvar/148446 ^@ GRCh38/hg38 10q11.21(chr10:42112187-42656364)x3 http://identifiers.org/clinvar/148447 ^@ GRCh38/hg38 19q13.33(chr19:47832818-47902680)x3 http://identifiers.org/clinvar/148448 ^@ GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 http://identifiers.org/clinvar/148449 ^@ GRCh38/hg38 6q27(chr6:167145050-170714507)x1 http://identifiers.org/clinvar/148450 ^@ GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 http://identifiers.org/clinvar/148451 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1 http://identifiers.org/clinvar/148452 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 http://identifiers.org/clinvar/148453 ^@ GRCh38/hg38 22q13.33(chr22:50725197-50755252)x3 http://identifiers.org/clinvar/148454 ^@ GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1 http://identifiers.org/clinvar/148455 ^@ GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 http://identifiers.org/clinvar/148456 ^@ GRCh38/hg38 Xq26.2(chrX:131386373-131936963)x2 http://identifiers.org/clinvar/148458 ^@ GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 http://identifiers.org/clinvar/148460 ^@ GRCh38/hg38 15q13.3(chr15:31772797-32275124)x1 http://identifiers.org/clinvar/148461 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3 http://identifiers.org/clinvar/148462 ^@ GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 http://identifiers.org/clinvar/148463 ^@ GRCh38/hg38 2p23.2(chr2:27956289-28198897)x1 http://identifiers.org/clinvar/148464 ^@ GRCh38/hg38 17q11.2(chr17:30706864-31016678)x1 http://identifiers.org/clinvar/148465 ^@ GRCh38/hg38 3q12.1(chr3:99755242-100236704)x1 http://identifiers.org/clinvar/148466 ^@ GRCh38/hg38 16p13.3(chr16:742199-1019543)x1 http://identifiers.org/clinvar/148467 ^@ GRCh38/hg38 2q24.3(chr2:166319464-166427533)x1 http://identifiers.org/clinvar/148468 ^@ GRCh38/hg38 2p16.1-15(chr2:60359313-61775405)x3 http://identifiers.org/clinvar/148469 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 http://identifiers.org/clinvar/148470 ^@ GRCh38/hg38 6q26(chr6:162120320-162668371)x3 http://identifiers.org/clinvar/148471 ^@ GRCh38/hg38 Xq13.3(chrX:75624941-76140442)x2 http://identifiers.org/clinvar/148474 ^@ GRCh38/hg38 16q24.3(chr16:89814556-89818183)x4 http://identifiers.org/clinvar/148475 ^@ GRCh38/hg38 1q43(chr1:242166764-242957825)x1 http://identifiers.org/clinvar/148476 ^@ GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3 http://identifiers.org/clinvar/148477 ^@ GRCh38/hg38 19p12(chr19:23441926-23878224)x1 http://identifiers.org/clinvar/148478 ^@ GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 http://identifiers.org/clinvar/148479 ^@ GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 http://identifiers.org/clinvar/148480 ^@ GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 http://identifiers.org/clinvar/148481 ^@ GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0 http://identifiers.org/clinvar/148482 ^@ GRCh38/hg38 Yq11.222-12(chrY:18545732-57189762)x0 http://identifiers.org/clinvar/148483 ^@ GRCh38/hg38 16p11.2(chr16:28813473-29122414)x1 http://identifiers.org/clinvar/148485 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/148486 ^@ GRCh38/hg38 1p36.33(chr1:821713-1223352)x1 http://identifiers.org/clinvar/148487 ^@ GRCh38/hg38 2p16.3(chr2:50574983-50710365)x1 http://identifiers.org/clinvar/148488 ^@ GRCh38/hg38 7q36.3(chr7:159214359-159335866)x3 http://identifiers.org/clinvar/148489 ^@ GRCh38/hg38 11q14.1(chr11:84359840-84590108)x1 http://identifiers.org/clinvar/148490 ^@ GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1 http://identifiers.org/clinvar/148491 ^@ GRCh38/hg38 7q11.22(chr7:72023557-72485542)x1 http://identifiers.org/clinvar/148492 ^@ GRCh38/hg38 5p15.2(chr5:12404346-12902412)x1 http://identifiers.org/clinvar/148493 ^@ GRCh38/hg38 10q21.2(chr10:62385040-62585115)x1 http://identifiers.org/clinvar/148494 ^@ GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1 http://identifiers.org/clinvar/148495 ^@ GRCh37/hg19 6p11.2(chr6:57360339-58060394)x3 http://identifiers.org/clinvar/148497 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28487211-29202837)x3 http://identifiers.org/clinvar/148498 ^@ GRCh38/hg38 16q23.1(chr16:77899896-78547533)x3 http://identifiers.org/clinvar/148499 ^@ GRCh38/hg38 2p21(chr2:44893684-45016061)x3 http://identifiers.org/clinvar/148500 ^@ GRCh38/hg38 Xq28(chrX:150218455-150676035)x2 http://identifiers.org/clinvar/148501 ^@ GRCh38/hg38 2p21(chr2:46592232-47488001)x3 http://identifiers.org/clinvar/148503 ^@ GRCh38/hg38 2q12.3(chr2:107924122-108509089)x1 http://identifiers.org/clinvar/148504 ^@ GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 http://identifiers.org/clinvar/148505 ^@ GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)x1 http://identifiers.org/clinvar/148506 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 http://identifiers.org/clinvar/148508 ^@ GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 http://identifiers.org/clinvar/148509 ^@ GRCh38/hg38 11q25(chr11:131212028-135075271)x1 http://identifiers.org/clinvar/148510 ^@ GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3 http://identifiers.org/clinvar/148511 ^@ GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 http://identifiers.org/clinvar/148513 ^@ GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1 http://identifiers.org/clinvar/148516 ^@ GRCh38/hg38 10p15.3(chr10:70478-457520)x1 http://identifiers.org/clinvar/148518 ^@ GRCh38/hg38 19p12(chr19:20859049-21165434)x1 http://identifiers.org/clinvar/148519 ^@ GRCh38/hg38 5q21.1(chr5:102153447-102656400)x1 http://identifiers.org/clinvar/148520 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46079192)x3 http://identifiers.org/clinvar/148521 ^@ GRCh38/hg38 15q21.3(chr15:53840387-54803037)x3 http://identifiers.org/clinvar/148522 ^@ GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1 http://identifiers.org/clinvar/148523 ^@ GRCh38/hg38 4q31.3(chr4:150307813-150937457)x4 http://identifiers.org/clinvar/148524 ^@ GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 http://identifiers.org/clinvar/148525 ^@ GRCh38/hg38 16p11.2(chr16:28722418-29033455)x1 http://identifiers.org/clinvar/148526 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 http://identifiers.org/clinvar/148527 ^@ GRCh38/hg38 3q26.1(chr3:161905309-165007994)x1 http://identifiers.org/clinvar/148528 ^@ GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1 http://identifiers.org/clinvar/148529 ^@ GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 http://identifiers.org/clinvar/148530 ^@ GRCh38/hg38 1q42.2(chr1:231432777-231696534)x1 http://identifiers.org/clinvar/148532 ^@ GRCh38/hg38 16q23.1(chr16:76033170-76548202)x3 http://identifiers.org/clinvar/148533 ^@ GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 http://identifiers.org/clinvar/148534 ^@ GRCh38/hg38 16p13.13(chr16:10778551-11374173)x3 http://identifiers.org/clinvar/148535 ^@ GRCh38/hg38 20q11.23-12(chr20:38912733-39376861)x1 http://identifiers.org/clinvar/148536 ^@ GRCh38/hg38 7q31.1(chr7:110924745-111350871)x1 http://identifiers.org/clinvar/148537 ^@ GRCh38/hg38 2p15(chr2:61288659-61495559)x1 http://identifiers.org/clinvar/148538 ^@ GRCh38/hg38 Yp11.2(chrY:5874108-7106335)x0 http://identifiers.org/clinvar/148539 ^@ GRCh38/hg38 9p21.3-21.2(chr9:24735335-25806728)x1 http://identifiers.org/clinvar/148540 ^@ GRCh38/hg38 15q21.1-21.2(chr15:49064333-50176783)x1 http://identifiers.org/clinvar/148541 ^@ GRCh38/hg38 16q24.3(chr16:89395175-89454555)x1 http://identifiers.org/clinvar/148542 ^@ GRCh38/hg38 10q23.1(chr10:82698093-83648451)x3 http://identifiers.org/clinvar/148543 ^@ GRCh38/hg38 3p26.3(chr3:1861223-2540213)x3 http://identifiers.org/clinvar/148544 ^@ GRCh38/hg38 2q14.3(chr2:122035096-124575251)x3 http://identifiers.org/clinvar/148545 ^@ GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3 http://identifiers.org/clinvar/148546 ^@ GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3 http://identifiers.org/clinvar/148547 ^@ GRCh38/hg38 1q43(chr1:237746901-237831511)x3 http://identifiers.org/clinvar/148549 ^@ GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 http://identifiers.org/clinvar/148550 ^@ GRCh38/hg38 Xp22.12(chrX:20007955-20579523)x2 http://identifiers.org/clinvar/148551 ^@ GRCh38/hg38 3p25.1(chr3:13325295-13882924)x4 http://identifiers.org/clinvar/148552 ^@ GRCh38/hg38 18p11.31(chr18:4130428-4674329)x3 http://identifiers.org/clinvar/148553 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6894970-7577151)x3 http://identifiers.org/clinvar/148554 ^@ GRCh38/hg38 Xp21.1(chrX:31870708-31898871)x1 http://identifiers.org/clinvar/148555 ^@ GRCh38/hg38 Xp21.1(chrX:31640772-31971906)x3 http://identifiers.org/clinvar/148556 ^@ GRCh38/hg38 Xp22.31(chrX:8629706-8736616)x3 http://identifiers.org/clinvar/148557 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 http://identifiers.org/clinvar/148558 ^@ GRCh38/hg38 7q21.13(chr7:88520043-90253333)x3 http://identifiers.org/clinvar/148559 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3 http://identifiers.org/clinvar/148560 ^@ GRCh38/hg38 22p11.2-q11.1(chr22:10874347-15903760)x3 http://identifiers.org/clinvar/148561 ^@ GRCh38/hg38 17p12(chr17:14208455-15538755)x3 http://identifiers.org/clinvar/148562 ^@ GRCh38/hg38 17p12(chr17:14208455-15538755)x1 http://identifiers.org/clinvar/148563 ^@ GRCh38/hg38 15q13.3(chr15:31772797-32384654)x1 http://identifiers.org/clinvar/148564 ^@ GRCh38/hg38 10q26.3(chr10:129293631-129810158)x3 http://identifiers.org/clinvar/148565 ^@ GRCh38/hg38 15q26.3(chr15:100472094-101062436)x3 http://identifiers.org/clinvar/148566 ^@ GRCh38/hg38 1q44(chr1:244960522-245542967)x3 http://identifiers.org/clinvar/148567 ^@ GRCh38/hg38 3p22.1(chr3:41330401-41768879)x1 http://identifiers.org/clinvar/148570 ^@ GRCh38/hg38 6q27(chr6:168802993-170714507)x1 http://identifiers.org/clinvar/148571 ^@ GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 http://identifiers.org/clinvar/148572 ^@ GRCh38/hg38 5q22.1(chr5:110273610-110606212)x1 http://identifiers.org/clinvar/148573 ^@ GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 http://identifiers.org/clinvar/148574 ^@ GRCh38/hg38 2q33.1-33.2(chr2:202476816-202631487)x3 http://identifiers.org/clinvar/148575 ^@ GRCh38/hg38 22q11.23(chr22:23787850-23954973)x3 http://identifiers.org/clinvar/148576 ^@ GRCh38/hg38 4q12(chr4:56248102-57218522)x4 http://identifiers.org/clinvar/148577 ^@ GRCh38/hg38 5p15.33(chr5:22149-52130)x1 http://identifiers.org/clinvar/148578 ^@ GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 http://identifiers.org/clinvar/148579 ^@ GRCh38/hg38 3p12.3(chr3:76656769-77048226)x1 http://identifiers.org/clinvar/148580 ^@ GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1 http://identifiers.org/clinvar/148582 ^@ GRCh38/hg38 16p13.3(chr16:165500-184338)x1 http://identifiers.org/clinvar/148583 ^@ GRCh38/hg38 8p22(chr8:13970816-14283507)x1 http://identifiers.org/clinvar/148584 ^@ GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1 http://identifiers.org/clinvar/148586 ^@ GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1 http://identifiers.org/clinvar/148587 ^@ GRCh38/hg38 10q21.3(chr10:66312974-66523838)x1 http://identifiers.org/clinvar/148588 ^@ GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3 http://identifiers.org/clinvar/148589 ^@ GRCh38/hg38 12q24.32(chr12:126309824-127076515)x3 http://identifiers.org/clinvar/148590 ^@ GRCh38/hg38 7p21.3(chr7:12673128-13477792)x3 http://identifiers.org/clinvar/148591 ^@ GRCh38/hg38 2q14.3(chr2:124285162-125329706)x3 http://identifiers.org/clinvar/148592 ^@ GRCh38/hg38 2q14.1(chr2:115717929-116761834)x3 http://identifiers.org/clinvar/148593 ^@ GRCh38/hg38 2q22.1-22.2(chr2:140659197-142948096)x3 http://identifiers.org/clinvar/148594 ^@ GRCh38/hg38 18q11.1(chr18:21085601-21414565)x1 http://identifiers.org/clinvar/148595 ^@ GRCh38/hg38 22q13.1-13.2(chr22:40431454-40934348)x3 http://identifiers.org/clinvar/148596 ^@ GRCh38/hg38 Xp22.11(chrX:22708737-23013878)x0 http://identifiers.org/clinvar/148597 ^@ GRCh38/hg38 4q35.2(chr4:188957851-189476947)x3 http://identifiers.org/clinvar/148598 ^@ GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 http://identifiers.org/clinvar/148599 ^@ GRCh38/hg38 10q24.31(chr10:100677717-100764519)x1 http://identifiers.org/clinvar/148600 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146019823)x1 http://identifiers.org/clinvar/148601 ^@ GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 http://identifiers.org/clinvar/148602 ^@ GRCh38/hg38 17p11.2-11.1(chr17:22159041-22726994)x1 http://identifiers.org/clinvar/148603 ^@ GRCh38/hg38 4q13.1(chr4:61375984-61631530)x1 http://identifiers.org/clinvar/148605 ^@ GRCh38/hg38 8q13.3(chr8:70625656-70804655)x1 http://identifiers.org/clinvar/148607 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6947044-7470216)x3 http://identifiers.org/clinvar/148609 ^@ GRCh38/hg38 1q44(chr1:245805927-246647918)x3 http://identifiers.org/clinvar/148610 ^@ GRCh38/hg38 Xp22.33(chrX:1000807-1702424)x3 http://identifiers.org/clinvar/148611 ^@ GRCh38/hg38 12p13.33(chr12:936769-1244917)x1 http://identifiers.org/clinvar/148613 ^@ GRCh38/hg38 5p14.1(chr5:26789669-27321283)x4 http://identifiers.org/clinvar/148614 ^@ GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 http://identifiers.org/clinvar/148615 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 http://identifiers.org/clinvar/148617 ^@ GRCh38/hg38 17p13.3(chr17:1343470-1361008)x3 http://identifiers.org/clinvar/148618 ^@ GRCh38/hg38 2q23.1(chr2:148440874-148677035)x3 http://identifiers.org/clinvar/148619 ^@ GRCh38/hg38 7p14.1(chr7:39670747-40871336)x3 http://identifiers.org/clinvar/148620 ^@ GRCh38/hg38 17q21.31(chr17:45674308-45941967)x3 http://identifiers.org/clinvar/148621 ^@ GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3 http://identifiers.org/clinvar/148622 ^@ GRCh38/hg38 18p11.21(chr18:13604748-14089410)x4 http://identifiers.org/clinvar/148623 ^@ GRCh38/hg38 Xp22.31(chrX:6536171-8147112)x1 http://identifiers.org/clinvar/148626 ^@ GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 http://identifiers.org/clinvar/148627 ^@ GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1 http://identifiers.org/clinvar/148628 ^@ GRCh38/hg38 3q29(chr3:195974291-197597912)x1 http://identifiers.org/clinvar/148629 ^@ GRCh38/hg38 3p13(chr3:70943620-71861889)x1 http://identifiers.org/clinvar/148630 ^@ GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1 http://identifiers.org/clinvar/148631 ^@ GRCh38/hg38 7q36.1-36.2(chr7:152674212-153203028)x3 http://identifiers.org/clinvar/148632 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 http://identifiers.org/clinvar/148633 ^@ GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 http://identifiers.org/clinvar/148634 ^@ GRCh38/hg38 2q37.2(chr2:235629892-235908482)x1 http://identifiers.org/clinvar/148635 ^@ GRCh38/hg38 12q21.32(chr12:86813466-87184596)x1 http://identifiers.org/clinvar/148636 ^@ GRCh38/hg38 14q31.3-32.11(chr14:89279482-89709054)x1 http://identifiers.org/clinvar/148637 ^@ GRCh38/hg38 2q36.2-36.3(chr2:224415921-225227768)x1 http://identifiers.org/clinvar/148638 ^@ GRCh38/hg38 16p13.3(chr16:6321454-6538850)x1 http://identifiers.org/clinvar/148639 ^@ GRCh38/hg38 17q11.2(chr17:31441351-32005206)x1 http://identifiers.org/clinvar/148641 ^@ GRCh38/hg38 12q21.1(chr12:72604773-73193301)x3 http://identifiers.org/clinvar/148642 ^@ GRCh38/hg38 Xp22.2(chrX:10764623-10923531)x2 http://identifiers.org/clinvar/148643 ^@ GRCh38/hg38 Xq27.3(chrX:145295181-146025530)x3 http://identifiers.org/clinvar/148644 ^@ GRCh38/hg38 1q43(chr1:242166764-243027799)x3 http://identifiers.org/clinvar/148645 ^@ GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 http://identifiers.org/clinvar/148646 ^@ GRCh38/hg38 Xp22.13-22.12(chrX:19073372-19743908)x2 http://identifiers.org/clinvar/148647 ^@ GRCh38/hg38 8p22(chr8:15792228-16383519)x3 http://identifiers.org/clinvar/148648 ^@ GRCh38/hg38 7q34(chr7:142237788-142779344)x3 http://identifiers.org/clinvar/148649 ^@ GRCh38/hg38 18q12.2(chr18:36805951-37082602)x1 http://identifiers.org/clinvar/148650 ^@ GRCh38/hg38 1q41(chr1:221979950-223007060)x3 http://identifiers.org/clinvar/148652 ^@ GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1 http://identifiers.org/clinvar/148654 ^@ GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1 http://identifiers.org/clinvar/148655 ^@ GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1 http://identifiers.org/clinvar/148657 ^@ GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 http://identifiers.org/clinvar/148658 ^@ GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 http://identifiers.org/clinvar/148659 ^@ GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1 http://identifiers.org/clinvar/148661 ^@ GRCh38/hg38 Yq12(chrY:56931525-57189762)x0 http://identifiers.org/clinvar/148662 ^@ GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1 http://identifiers.org/clinvar/148663 ^@ GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 http://identifiers.org/clinvar/148666 ^@ GRCh38/hg38 4q22.1-22.3(chr4:92087558-94308725)x1 http://identifiers.org/clinvar/148667 ^@ GRCh38/hg38 10q11.23-21.1(chr10:50967523-53709183)x1 http://identifiers.org/clinvar/148668 ^@ GRCh38/hg38 5q33.1-33.2(chr5:153202442-153715746)x1 http://identifiers.org/clinvar/148669 ^@ GRCh38/hg38 13q12.12(chr13:22980365-23533846)x1 http://identifiers.org/clinvar/148670 ^@ GRCh38/hg38 4q22.3-23(chr4:97494896-98048134)x1 http://identifiers.org/clinvar/148671 ^@ GRCh38/hg38 5q22.3-23.1(chr5:115387674-115916830)x1 http://identifiers.org/clinvar/148673 ^@ GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 http://identifiers.org/clinvar/148674 ^@ GRCh38/hg38 16p12.2(chr16:21717046-22634444)x3 http://identifiers.org/clinvar/148675 ^@ GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3 http://identifiers.org/clinvar/148676 ^@ GRCh38/hg38 7p22.1-21.3(chr7:6887830-8054546)x3 http://identifiers.org/clinvar/148677 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 http://identifiers.org/clinvar/148678 ^@ GRCh38/hg38 6q27(chr6:168881467-170602152)x1 http://identifiers.org/clinvar/148679 ^@ GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 http://identifiers.org/clinvar/148682 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 http://identifiers.org/clinvar/148683 ^@ GRCh38/hg38 12q24.21(chr12:114390252-114394865)x1 http://identifiers.org/clinvar/148685 ^@ GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 http://identifiers.org/clinvar/148686 ^@ GRCh38/hg38 3q25.2(chr3:154358336-155102453)x1 http://identifiers.org/clinvar/148687 ^@ GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1 http://identifiers.org/clinvar/148688 ^@ GRCh38/hg38 20p12.1(chr20:14648477-14947981)x1 http://identifiers.org/clinvar/148689 ^@ GRCh38/hg38 16p13.3(chr16:7051254-7143066)x1 http://identifiers.org/clinvar/148690 ^@ GRCh38/hg38 12q14.1(chr12:60139100-61719804)x1 http://identifiers.org/clinvar/148691 ^@ GRCh38/hg38 9p23(chr9:9114504-12196201)x3 http://identifiers.org/clinvar/148693 ^@ GRCh38/hg38 20p12.1(chr20:14947922-15202408)x1 http://identifiers.org/clinvar/148694 ^@ GRCh38/hg38 6q22.31(chr6:123206400-123981401)x3 http://identifiers.org/clinvar/148696 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147002657-148355961)x1 http://identifiers.org/clinvar/148697 ^@ GRCh38/hg38 10q25.3(chr10:115174050-115304059)x1 http://identifiers.org/clinvar/148698 ^@ GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1 http://identifiers.org/clinvar/148699 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 http://identifiers.org/clinvar/148701 ^@ GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 http://identifiers.org/clinvar/148702 ^@ GRCh38/hg38 10p15.3(chr10:457461-770688)x1 http://identifiers.org/clinvar/148703 ^@ GRCh38/hg38 15q26.3(chr15:100083510-100383629)x1 http://identifiers.org/clinvar/148704 ^@ GRCh38/hg38 Yq11.223(chrY:21949807-22737927)x0 http://identifiers.org/clinvar/148705 ^@ GRCh38/hg38 2q32.1(chr2:185792415-186462833)x1 http://identifiers.org/clinvar/148706 ^@ GRCh38/hg38 3p26.2(chr3:3516038-3885321)x3 http://identifiers.org/clinvar/148707 ^@ GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3 http://identifiers.org/clinvar/148709 ^@ GRCh38/hg38 12q14.1(chr12:60162179-62078005)x3 http://identifiers.org/clinvar/148710 ^@ GRCh38/hg38 1q31.1(chr1:189636317-190166135)x3 http://identifiers.org/clinvar/148711 ^@ GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3 http://identifiers.org/clinvar/148714 ^@ GRCh38/hg38 Xq28(chrX:155844642-156003242)x0 http://identifiers.org/clinvar/148715 ^@ GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 http://identifiers.org/clinvar/148716 ^@ GRCh38/hg38 17p12(chr17:14671118-15952996)x1 http://identifiers.org/clinvar/148717 ^@ GRCh38/hg38 2p16.3(chr2:50860917-51029929)x1 http://identifiers.org/clinvar/148718 ^@ GRCh38/hg38 9p13.3-q21.11(chr9:41747162-67217006)x3 http://identifiers.org/clinvar/148719 ^@ GRCh38/hg38 17p13.3(chr17:1393938-1624152)x3 http://identifiers.org/clinvar/148720 ^@ GRCh38/hg38 2p25.3(chr2:17019-1029157)x1 http://identifiers.org/clinvar/148721 ^@ GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 http://identifiers.org/clinvar/148722 ^@ GRCh38/hg38 5p15.33(chr5:821764-1271935)x3 http://identifiers.org/clinvar/148723 ^@ GRCh38/hg38 10q21.3(chr10:66491777-66756820)x1 http://identifiers.org/clinvar/148725 ^@ GRCh38/hg38 17p11.2-11.1(chr17:22156481-22726994)x1 http://identifiers.org/clinvar/148726 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2749924-3037155)x1 http://identifiers.org/clinvar/148727 ^@ GRCh38/hg38 17p13.3(chr17:523549-1311896)x1 http://identifiers.org/clinvar/148728 ^@ GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1 http://identifiers.org/clinvar/148729 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 http://identifiers.org/clinvar/148730 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22436900)x3 http://identifiers.org/clinvar/148731 ^@ GRCh38/hg38 4q28.1(chr4:123919973-124629482)x3 http://identifiers.org/clinvar/148732 ^@ GRCh38/hg38 1p36.32(chr1:3695587-4084682)x3 http://identifiers.org/clinvar/148733 ^@ GRCh38/hg38 22q11.21(chr22:18996947-19643820)x3 http://identifiers.org/clinvar/148734 ^@ GRCh38/hg38 10q23.1(chr10:82855342-82888244)x3 http://identifiers.org/clinvar/148735 ^@ GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3 http://identifiers.org/clinvar/148736 ^@ GRCh38/hg38 19q11(chr19:27362299-27992601)x3 http://identifiers.org/clinvar/148737 ^@ GRCh38/hg38 15q15.3(chr15:43596729-43659103)x0 http://identifiers.org/clinvar/148738 ^@ GRCh38/hg38 Xp22.13(chrX:18564194-18595430)x1 http://identifiers.org/clinvar/148740 ^@ GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 http://identifiers.org/clinvar/148743 ^@ GRCh38/hg38 2q37.3(chr2:238640819-238992486)x1 http://identifiers.org/clinvar/148744 ^@ GRCh38/hg38 9p24.1-23(chr9:7406754-10757763)x1 http://identifiers.org/clinvar/148745 ^@ GRCh38/hg38 20q13.33(chr20:61262566-61742628)x1 http://identifiers.org/clinvar/148746 ^@ GRCh38/hg38 2q24.1(chr2:158081288-158743457)x1 http://identifiers.org/clinvar/148747 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25372487-25596759)x1 http://identifiers.org/clinvar/148748 ^@ GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3 http://identifiers.org/clinvar/148749 ^@ GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3 http://identifiers.org/clinvar/148750 ^@ GRCh38/hg38 Xq28(chrX:154890368-155348538)x2 http://identifiers.org/clinvar/148751 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3 http://identifiers.org/clinvar/148752 ^@ GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4 http://identifiers.org/clinvar/148753 ^@ GRCh38/hg38 8p22(chr8:18081979-18436249)x1 http://identifiers.org/clinvar/148754 ^@ GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 http://identifiers.org/clinvar/148755 ^@ GRCh38/hg38 3q27.3-28(chr3:187521625-188779207)x1 http://identifiers.org/clinvar/148756 ^@ GRCh38/hg38 17p13.3(chr17:1366984-1380885)x1 http://identifiers.org/clinvar/148757 ^@ GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 http://identifiers.org/clinvar/148758 ^@ GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 http://identifiers.org/clinvar/148759 ^@ GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 http://identifiers.org/clinvar/148760 ^@ GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 http://identifiers.org/clinvar/148761 ^@ GRCh38/hg38 3q29(chr3:192752937-198118383)x3 http://identifiers.org/clinvar/148763 ^@ GRCh38/hg38 1p13.1-12(chr1:116752007-117309842)x3 http://identifiers.org/clinvar/148765 ^@ GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 http://identifiers.org/clinvar/148766 ^@ GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 http://identifiers.org/clinvar/148768 ^@ GRCh38/hg38 10p13(chr10:15727841-16109161)x1 http://identifiers.org/clinvar/148769 ^@ GRCh38/hg38 16p13.3(chr16:6769601-6856541)x1 http://identifiers.org/clinvar/148770 ^@ GRCh38/hg38 2q14.2(chr2:119745184-120469045)x1 http://identifiers.org/clinvar/148771 ^@ GRCh38/hg38 9q33.3(chr9:126697357-126705848)x3 http://identifiers.org/clinvar/148772 ^@ GRCh38/hg38 18q22.1(chr18:67386283-67981280)x3 http://identifiers.org/clinvar/148773 ^@ GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3 http://identifiers.org/clinvar/148775 ^@ GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1 http://identifiers.org/clinvar/148776 ^@ GRCh38/hg38 Xq21.33(chrX:95975241-96745547)x3 http://identifiers.org/clinvar/148777 ^@ GRCh38/hg38 12p13.33(chr12:2543999-2698761)x3 http://identifiers.org/clinvar/148778 ^@ GRCh38/hg38 14q31.3(chr14:85536572-86997925)x3 http://identifiers.org/clinvar/148779 ^@ GRCh38/hg38 Xp22.32-22.31(chrX:5134933-6124962)x2 http://identifiers.org/clinvar/148780 ^@ GRCh38/hg38 11p14.1-13(chr11:30446855-31031357)x3 http://identifiers.org/clinvar/148781 ^@ GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1 http://identifiers.org/clinvar/148782 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1 http://identifiers.org/clinvar/148783 ^@ GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3 http://identifiers.org/clinvar/148784 ^@ GRCh38/hg38 16p13.3(chr16:165236-180300)x1 http://identifiers.org/clinvar/148785 ^@ GRCh38/hg38 18q22.3(chr18:72991780-73274099)x1 http://identifiers.org/clinvar/148787 ^@ GRCh38/hg38 20p13-12.3(chr20:5039774-5645855)x3 http://identifiers.org/clinvar/148788 ^@ GRCh38/hg38 4q32.2(chr4:161023948-161797952)x1 http://identifiers.org/clinvar/148789 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3 http://identifiers.org/clinvar/148790 ^@ GRCh38/hg38 10q24.32(chr10:101528556-101562006)x3 http://identifiers.org/clinvar/148791 ^@ GRCh38/hg38 5p15.1(chr5:15097493-15866008)x3 http://identifiers.org/clinvar/148792 ^@ GRCh38/hg38 Xp22.31(chrX:8629706-8737453)x3 http://identifiers.org/clinvar/148793 ^@ GRCh38/hg38 6p25.3(chr6:1744004-2006554)x1 http://identifiers.org/clinvar/148794 ^@ GRCh38/hg38 9p22.1-21.3(chr9:19564275-20636227)x3 http://identifiers.org/clinvar/148795 ^@ GRCh38/hg38 Xp22.31(chrX:8629706-8737453)x2 http://identifiers.org/clinvar/148796 ^@ GRCh38/hg38 16p13.3(chr16:6746845-6786968)x1 http://identifiers.org/clinvar/148797 ^@ GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1 http://identifiers.org/clinvar/148798 ^@ GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3 http://identifiers.org/clinvar/148799 ^@ GRCh38/hg38 3p26.3(chr3:1126048-1422666)x1 http://identifiers.org/clinvar/148801 ^@ GRCh38/hg38 Xp22.11(chrX:22618623-23233979)x1 http://identifiers.org/clinvar/148802 ^@ GRCh38/hg38 1q43(chr1:237041745-237356380)x3 http://identifiers.org/clinvar/148803 ^@ GRCh38/hg38 Xq28(chrX:154544685-154548174)x3 http://identifiers.org/clinvar/148804 ^@ GRCh38/hg38 Xp22.2(chrX:10791922-10923531)x3 http://identifiers.org/clinvar/148805 ^@ GRCh38/hg38 9p24.1(chr9:4768744-5426099)x3 http://identifiers.org/clinvar/148806 ^@ GRCh38/hg38 4p16.1(chr4:10011787-10873830)x3 http://identifiers.org/clinvar/148808 ^@ GRCh38/hg38 Xp22.31(chrX:7860124-8463747)x2 http://identifiers.org/clinvar/148809 ^@ GRCh38/hg38 Xp22.31(chrX:7860124-8463747)x0 http://identifiers.org/clinvar/148810 ^@ GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3 http://identifiers.org/clinvar/148811 ^@ GRCh38/hg38 6q25.3(chr6:157523929-157547741)x1 http://identifiers.org/clinvar/148812 ^@ GRCh38/hg38 3p26.3(chr3:1474172-1861282)x4 http://identifiers.org/clinvar/148813 ^@ GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 http://identifiers.org/clinvar/148814 ^@ GRCh38/hg38 3p26.3(chr3:927275-1305668)x4 http://identifiers.org/clinvar/148815 ^@ GRCh38/hg38 5q12.1(chr5:60884948-61132933)x0 http://identifiers.org/clinvar/148816 ^@ GRCh38/hg38 6q24.1(chr6:139455977-140318558)x3 http://identifiers.org/clinvar/148817 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 http://identifiers.org/clinvar/148818 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 http://identifiers.org/clinvar/148819 ^@ GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 http://identifiers.org/clinvar/148820 ^@ GRCh38/hg38 13q31.3(chr13:92695363-93634680)x1 http://identifiers.org/clinvar/148821 ^@ GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 http://identifiers.org/clinvar/148822 ^@ GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 http://identifiers.org/clinvar/148823 ^@ GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 http://identifiers.org/clinvar/148824 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147029419-148352079)x3 http://identifiers.org/clinvar/148825 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1 http://identifiers.org/clinvar/148826 ^@ GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3 http://identifiers.org/clinvar/148827 ^@ GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 http://identifiers.org/clinvar/148828 ^@ GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 http://identifiers.org/clinvar/148829 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4 http://identifiers.org/clinvar/148830 ^@ GRCh38/hg38 10q23.31(chr10:89738884-89953077)x1 http://identifiers.org/clinvar/148832 ^@ GRCh38/hg38 3q26.33(chr3:181221877-182452343)x1 http://identifiers.org/clinvar/148833 ^@ GRCh38/hg38 1p35.2(chr1:30098862-30696608)x1 http://identifiers.org/clinvar/148834 ^@ GRCh38/hg38 10p12.33(chr10:17632287-17934423)x1 http://identifiers.org/clinvar/148835 ^@ GRCh38/hg38 3q22.1(chr3:129855684-130536179)x1 http://identifiers.org/clinvar/148836 ^@ GRCh38/hg38 2p16.1(chr2:59457545-60448961)x1 http://identifiers.org/clinvar/148837 ^@ GRCh38/hg38 5p15.2(chr5:11715530-11876114)x1 http://identifiers.org/clinvar/148838 ^@ GRCh38/hg38 7p15.3(chr7:23765383-23982353)x1 http://identifiers.org/clinvar/148839 ^@ GRCh38/hg38 8p23.2(chr8:2959497-5422730)x3 http://identifiers.org/clinvar/148840 ^@ GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3 http://identifiers.org/clinvar/148841 ^@ GRCh38/hg38 7p22.1-21.3(chr7:6887830-7528189)x3 http://identifiers.org/clinvar/148842 ^@ GRCh38/hg38 16p12.3(chr16:17169800-17966460)x3 http://identifiers.org/clinvar/148843 ^@ GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3 http://identifiers.org/clinvar/148844 ^@ GRCh38/hg38 3q26.33(chr3:182192428-182657097)x1 http://identifiers.org/clinvar/148845 ^@ GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3 http://identifiers.org/clinvar/148846 ^@ GRCh38/hg38 15q11.2-12(chr15:23319714-25980547)x3 http://identifiers.org/clinvar/148849 ^@ GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1 http://identifiers.org/clinvar/148850 ^@ GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 http://identifiers.org/clinvar/148851 ^@ GRCh38/hg38 5q14.1-14.2(chr5:81756567-82198683)x1 http://identifiers.org/clinvar/148852 ^@ GRCh38/hg38 17q12(chr17:36566143-37829080)x1 http://identifiers.org/clinvar/148853 ^@ GRCh38/hg38 17q12(chr17:36446545-38225796)x1 http://identifiers.org/clinvar/148854 ^@ GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 http://identifiers.org/clinvar/148855 ^@ GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1 http://identifiers.org/clinvar/148856 ^@ GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1 http://identifiers.org/clinvar/148857 ^@ GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1 http://identifiers.org/clinvar/148858 ^@ GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1 http://identifiers.org/clinvar/148859 ^@ GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 http://identifiers.org/clinvar/148861 ^@ GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 http://identifiers.org/clinvar/148862 ^@ GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 http://identifiers.org/clinvar/148863 ^@ GRCh38/hg38 16q12.2(chr16:53849442-54109066)x1 http://identifiers.org/clinvar/148866 ^@ GRCh38/hg38 4q34.1(chr4:174309939-174880610)x1 http://identifiers.org/clinvar/148867 ^@ GRCh38/hg38 13q12.13(chr13:25605266-25805785)x1 http://identifiers.org/clinvar/148868 ^@ GRCh38/hg38 17p11.2(chr17:17606582-17696536)x3 http://identifiers.org/clinvar/148869 ^@ GRCh38/hg38 5p15.31-15.2(chr5:9491619-10149143)x3 http://identifiers.org/clinvar/148870 ^@ GRCh38/hg38 9p21.3(chr9:22382291-23232148)x3 http://identifiers.org/clinvar/148871 ^@ GRCh38/hg38 19p13.11-12(chr19:19859042-20621825)x3 http://identifiers.org/clinvar/148872 ^@ GRCh38/hg38 11p11.2(chr11:47992987-48761561)x3 http://identifiers.org/clinvar/148873 ^@ GRCh38/hg38 3p14.1(chr3:65536355-66319200)x3 http://identifiers.org/clinvar/148874 ^@ GRCh38/hg38 13q13.3(chr13:37976312-38558676)x3 http://identifiers.org/clinvar/148875 ^@ GRCh38/hg38 17p13.3(chr17:162016-1904358)x1 http://identifiers.org/clinvar/148876 ^@ GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 http://identifiers.org/clinvar/148877 ^@ GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 http://identifiers.org/clinvar/148878 ^@ GRCh38/hg38 Yp11.31(chrY:330550-542148)x0 http://identifiers.org/clinvar/148879 ^@ GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1 http://identifiers.org/clinvar/148883 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28694893-30785630)x3 http://identifiers.org/clinvar/148884 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147071299-148355961)x1 http://identifiers.org/clinvar/148886 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1 http://identifiers.org/clinvar/148887 ^@ GRCh38/hg38 15q13.3(chr15:31772797-32153051)x1 http://identifiers.org/clinvar/148888 ^@ GRCh38/hg38 15q13.3(chr15:31772797-32153051)x0 http://identifiers.org/clinvar/148889 ^@ GRCh38/hg38 18p11.32(chr18:1167291-1949961)x1 http://identifiers.org/clinvar/148891 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)x1 http://identifiers.org/clinvar/148892 ^@ GRCh38/hg38 2p25.3(chr2:17019-1645317)x1 http://identifiers.org/clinvar/148893 ^@ GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3 http://identifiers.org/clinvar/148894 ^@ GRCh38/hg38 8q11.1(chr8:46544863-47071050)x3 http://identifiers.org/clinvar/148895 ^@ GRCh38/hg38 13q34(chr13:111355741-114340331)x1 http://identifiers.org/clinvar/148896 ^@ GRCh38/hg38 22p11.2-q11.1(chr22:10874347-15903760)x1 http://identifiers.org/clinvar/148897 ^@ GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1 http://identifiers.org/clinvar/148898 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 http://identifiers.org/clinvar/148899 ^@ GRCh38/hg38 2q23.1(chr2:148029482-148303194)x1 http://identifiers.org/clinvar/148901 ^@ GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 http://identifiers.org/clinvar/148902 ^@ GRCh38/hg38 5p12(chr5:45003649-45362262)x1 http://identifiers.org/clinvar/148904 ^@ GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1 http://identifiers.org/clinvar/148905 ^@ GRCh38/hg38 Xq28(chrX:155800088-156003242)x1 http://identifiers.org/clinvar/148906 ^@ GRCh38/hg38 14q24.1(chr14:67900037-68575051)x3 http://identifiers.org/clinvar/148907 ^@ GRCh38/hg38 7p14.3(chr7:31815182-32377413)x3 http://identifiers.org/clinvar/148908 ^@ GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3 http://identifiers.org/clinvar/148909 ^@ GRCh38/hg38 2q13(chr2:109975055-110576905)x3 http://identifiers.org/clinvar/148911 ^@ GRCh38/hg38 18q23(chr18:77435484-78986117)x3 http://identifiers.org/clinvar/148914 ^@ GRCh38/hg38 4q24(chr4:101562032-102292685)x3 http://identifiers.org/clinvar/148915 ^@ GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 http://identifiers.org/clinvar/148916 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 http://identifiers.org/clinvar/148918 ^@ GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 http://identifiers.org/clinvar/148919 ^@ GRCh38/hg38 16q24.3(chr16:89939453-90096995)x1 http://identifiers.org/clinvar/148920 ^@ GRCh38/hg38 2p25.3(chr2:17019-774946)x1 http://identifiers.org/clinvar/148921 ^@ GRCh38/hg38 3p26.3(chr3:2557269-2698434)x3 http://identifiers.org/clinvar/148922 ^@ GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 http://identifiers.org/clinvar/148923 ^@ GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 http://identifiers.org/clinvar/148924 ^@ GRCh38/hg38 17p13.3(chr17:2592886-2609006)x1 http://identifiers.org/clinvar/148925 ^@ GRCh38/hg38 Xp22.31(chrX:6534648-8147112)x1 http://identifiers.org/clinvar/148926 ^@ GRCh38/hg38 Xp22.31(chrX:6534648-8147112)x0 http://identifiers.org/clinvar/148927 ^@ GRCh38/hg38 6q24.1(chr6:139002616-140199336)x3 http://identifiers.org/clinvar/148928 ^@ GRCh38/hg38 1p36.23(chr1:7404800-7606118)x1 http://identifiers.org/clinvar/148929 ^@ GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1 http://identifiers.org/clinvar/148930 ^@ GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3 http://identifiers.org/clinvar/148932 ^@ GRCh38/hg38 16q22.3(chr16:73155229-73692713)x3 http://identifiers.org/clinvar/148933 ^@ GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 http://identifiers.org/clinvar/148934 ^@ GRCh38/hg38 7q21.13(chr7:88520043-90261496)x3 http://identifiers.org/clinvar/148935 ^@ GRCh38/hg38 11q22.3(chr11:103149463-103663515)x3 http://identifiers.org/clinvar/148936 ^@ GRCh38/hg38 16q23.3(chr16:83091397-83308500)x1 http://identifiers.org/clinvar/148938 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46094581)x1 http://identifiers.org/clinvar/148939 ^@ GRCh38/hg38 15q26.2(chr15:94005151-95597885)x1 http://identifiers.org/clinvar/148940 ^@ GRCh38/hg38 Xp22.2(chrX:11071625-11718694)x3 http://identifiers.org/clinvar/148941 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3 http://identifiers.org/clinvar/148942 ^@ GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 http://identifiers.org/clinvar/148943 ^@ GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 http://identifiers.org/clinvar/148944 ^@ GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 http://identifiers.org/clinvar/148945 ^@ GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 http://identifiers.org/clinvar/148946 ^@ GRCh38/hg38 3p26.3(chr3:32241-1798654)x1 http://identifiers.org/clinvar/148948 ^@ GRCh38/hg38 10q21.3(chr10:66523779-66756820)x1 http://identifiers.org/clinvar/148949 ^@ GRCh38/hg38 22q13.33(chr22:50685063-50755252)x3 http://identifiers.org/clinvar/148950 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 http://identifiers.org/clinvar/148951 ^@ GRCh38/hg38 16q23.1(chr16:76193969-76661835)x3 http://identifiers.org/clinvar/148952 ^@ GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 http://identifiers.org/clinvar/148953 ^@ GRCh38/hg38 16q23.1(chr16:76680652-77199749)x4 http://identifiers.org/clinvar/148954 ^@ GRCh38/hg38 9q31.2(chr9:106178482-107049249)x3 http://identifiers.org/clinvar/148955 ^@ GRCh38/hg38 19p13.3(chr19:1144297-1211700)x3 http://identifiers.org/clinvar/148956 ^@ GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3 http://identifiers.org/clinvar/148957 ^@ GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 http://identifiers.org/clinvar/148958 ^@ GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 http://identifiers.org/clinvar/148959 ^@ GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 http://identifiers.org/clinvar/148960 ^@ GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1 http://identifiers.org/clinvar/148961 ^@ GRCh38/hg38 16p13.11(chr16:14954894-15194642)x1 http://identifiers.org/clinvar/148962 ^@ GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1 http://identifiers.org/clinvar/148963 ^@ GRCh38/hg38 15q13.3(chr15:31772797-32247465)x1 http://identifiers.org/clinvar/148964 ^@ GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3 http://identifiers.org/clinvar/148965 ^@ GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 http://identifiers.org/clinvar/148966 ^@ GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3 http://identifiers.org/clinvar/148967 ^@ GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3 http://identifiers.org/clinvar/148968 ^@ GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3 http://identifiers.org/clinvar/148969 ^@ GRCh38/hg38 Xp22.31(chrX:8673723-8961059)x3 http://identifiers.org/clinvar/148970 ^@ GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3 http://identifiers.org/clinvar/148971 ^@ GRCh38/hg38 5p15.33(chr5:22149-192721)x1 http://identifiers.org/clinvar/148972 ^@ GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 http://identifiers.org/clinvar/148973 ^@ GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 http://identifiers.org/clinvar/148974 ^@ GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1 http://identifiers.org/clinvar/148975 ^@ GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1 http://identifiers.org/clinvar/148976 ^@ GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 http://identifiers.org/clinvar/148977 ^@ GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3 http://identifiers.org/clinvar/148978 ^@ GRCh38/hg38 7q35(chr7:146743098-146778666)x1 http://identifiers.org/clinvar/148980 ^@ GRCh38/hg38 20p12.3(chr20:6186076-8804328)x3 http://identifiers.org/clinvar/148981 ^@ GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3 http://identifiers.org/clinvar/148983 ^@ GRCh38/hg38 Xp21.3(chrX:28794135-28818044)x0 http://identifiers.org/clinvar/148984 ^@ GRCh38/hg38 6q15(chr6:90066705-90579827)x3 http://identifiers.org/clinvar/148985 ^@ GRCh38/hg38 5p15.33(chr5:1719148-2258986)x3 http://identifiers.org/clinvar/148986 ^@ GRCh38/hg38 20p12.1(chr20:16704727-17303136)x3 http://identifiers.org/clinvar/148987 ^@ GRCh38/hg38 5q32(chr5:146799840-147408423)x3 http://identifiers.org/clinvar/148988 ^@ GRCh38/hg38 Yq11.222(chrY:18774616-19429188)x2 http://identifiers.org/clinvar/148989 ^@ GRCh38/hg38 1q41(chr1:216598114-218007334)x3 http://identifiers.org/clinvar/148990 ^@ GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3 http://identifiers.org/clinvar/148991 ^@ GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3 http://identifiers.org/clinvar/148992 ^@ GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4 http://identifiers.org/clinvar/148993 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 http://identifiers.org/clinvar/148994 ^@ GRCh38/hg38 16p13.3(chr16:173659-175685)x0 http://identifiers.org/clinvar/148995 ^@ GRCh38/hg38 Xp22.31(chrX:6787227-7971228)x0 http://identifiers.org/clinvar/148996 ^@ GRCh38/hg38 17p13.3(chr17:2261727-2502345)x1 http://identifiers.org/clinvar/148997 ^@ GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 http://identifiers.org/clinvar/148998 ^@ GRCh38/hg38 4q25(chr4:107201546-107840495)x3 http://identifiers.org/clinvar/148999 ^@ GRCh38/hg38 Xq25(chrX:124464328-124702529)x1 http://identifiers.org/clinvar/149001 ^@ GRCh38/hg38 10q24.32-24.33(chr10:102710547-103110626)x1 http://identifiers.org/clinvar/149002 ^@ GRCh38/hg38 7q21.11(chr7:85049290-85814839)x1 http://identifiers.org/clinvar/149003 ^@ GRCh38/hg38 10p14(chr10:10940950-11775908)x1 http://identifiers.org/clinvar/149004 ^@ GRCh38/hg38 7q36.1(chr7:152428819-152636746)x1 http://identifiers.org/clinvar/149006 ^@ GRCh38/hg38 Xq12(chrX:66077618-67113715)x3 http://identifiers.org/clinvar/149007 ^@ GRCh38/hg38 7q34(chr7:140705035-140843105)x3 http://identifiers.org/clinvar/149008 ^@ GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4 http://identifiers.org/clinvar/149010 ^@ GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 http://identifiers.org/clinvar/149012 ^@ GRCh38/hg38 3p26.1(chr3:4262297-4463996)x1 http://identifiers.org/clinvar/149013 ^@ GRCh38/hg38 1p33(chr1:48894921-49244163)x1 http://identifiers.org/clinvar/149014 ^@ GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1 http://identifiers.org/clinvar/149015 ^@ GRCh38/hg38 1q44(chr1:247798967-248376495)x1 http://identifiers.org/clinvar/149017 ^@ GRCh38/hg38 15q11.2(chr15:24897997-25103626)x3 http://identifiers.org/clinvar/149021 ^@ GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 http://identifiers.org/clinvar/149023 ^@ GRCh38/hg38 10q25.3(chr10:115124875-115304059)x1 http://identifiers.org/clinvar/149024 ^@ GRCh38/hg38 2q14.3(chr2:122847356-126223861)x1 http://identifiers.org/clinvar/149025 ^@ GRCh38/hg38 Yp11.2(chrY:6590056-8773201)x0 http://identifiers.org/clinvar/149026 ^@ GRCh38/hg38 16p13.12(chr16:12641872-13439605)x1 http://identifiers.org/clinvar/149027 ^@ GRCh38/hg38 Yq11.223(chrY:21949807-22728213)x0 http://identifiers.org/clinvar/149028 ^@ GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3 http://identifiers.org/clinvar/149029 ^@ GRCh38/hg38 6q26(chr6:162725310-163276413)x3 http://identifiers.org/clinvar/149030 ^@ GRCh38/hg38 6q24.1(chr6:140505572-141085965)x3 http://identifiers.org/clinvar/149031 ^@ GRCh38/hg38 9p23(chr9:12286919-12816767)x3 http://identifiers.org/clinvar/149032 ^@ GRCh38/hg38 14q21.2(chr14:44283179-44978212)x3 http://identifiers.org/clinvar/149033 ^@ GRCh38/hg38 2q35(chr2:219081620-219758878)x3 http://identifiers.org/clinvar/149034 ^@ GRCh38/hg38 Xp22.31(chrX:6652896-8110114)x1 http://identifiers.org/clinvar/149035 ^@ GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 http://identifiers.org/clinvar/149036 ^@ GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 http://identifiers.org/clinvar/149037 ^@ GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3 http://identifiers.org/clinvar/149038 ^@ GRCh38/hg38 Xq25(chrX:123468978-123583021)x2 http://identifiers.org/clinvar/149039 ^@ GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 http://identifiers.org/clinvar/149040 ^@ GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1 http://identifiers.org/clinvar/149042 ^@ GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 http://identifiers.org/clinvar/149043 ^@ GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3 http://identifiers.org/clinvar/149044 ^@ GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1 http://identifiers.org/clinvar/149045 ^@ GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1 http://identifiers.org/clinvar/149046 ^@ GRCh38/hg38 10q21.1(chr10:53954459-54098171)x0 http://identifiers.org/clinvar/149048 ^@ GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 http://identifiers.org/clinvar/149050 ^@ GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 http://identifiers.org/clinvar/149051 ^@ GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3 http://identifiers.org/clinvar/149052 ^@ GRCh38/hg38 6q25.3(chr6:158172635-158745586)x3 http://identifiers.org/clinvar/149053 ^@ GRCh38/hg38 7q36.3(chr7:157879987-158752871)x3 http://identifiers.org/clinvar/149054 ^@ GRCh38/hg38 Xp22.31(chrX:8504456-8673782)x2 http://identifiers.org/clinvar/149055 ^@ GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3 http://identifiers.org/clinvar/149056 ^@ GRCh38/hg38 10q21.3(chr10:64673789-66599736)x1 http://identifiers.org/clinvar/149057 ^@ GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 http://identifiers.org/clinvar/149058 ^@ GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 http://identifiers.org/clinvar/149059 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 http://identifiers.org/clinvar/149060 ^@ GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 http://identifiers.org/clinvar/149061 ^@ GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 http://identifiers.org/clinvar/149064 ^@ GRCh38/hg38 6q16.1(chr6:97789365-98332578)x1 http://identifiers.org/clinvar/149065 ^@ GRCh38/hg38 2p16.3(chr2:49089770-49360262)x1 http://identifiers.org/clinvar/149066 ^@ GRCh38/hg38 2q13(chr2:111289044-111834569)x1 http://identifiers.org/clinvar/149067 ^@ GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1 http://identifiers.org/clinvar/149069 ^@ GRCh38/hg38 13q14.11(chr13:42786307-43325066)x3 http://identifiers.org/clinvar/149072 ^@ GRCh38/hg38 20p12.1(chr20:15344777-16233253)x4 http://identifiers.org/clinvar/149073 ^@ GRCh38/hg38 Xp22.31(chrX:8629706-8736954)x3 http://identifiers.org/clinvar/149074 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 http://identifiers.org/clinvar/149075 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/149076 ^@ GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 http://identifiers.org/clinvar/149078 ^@ GRCh38/hg38 5p14.3(chr5:21931123-22225759)x1 http://identifiers.org/clinvar/149079 ^@ GRCh38/hg38 8q24.21-24.22(chr8:130012847-130639241)x1 http://identifiers.org/clinvar/149080 ^@ GRCh38/hg38 2q21.1(chr2:130720159-131196705)x1 http://identifiers.org/clinvar/149081 ^@ GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3 http://identifiers.org/clinvar/149082 ^@ GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3 http://identifiers.org/clinvar/149083 ^@ GRCh38/hg38 2p25.3(chr2:1844295-3488792)x3 http://identifiers.org/clinvar/149084 ^@ GRCh38/hg38 11q14.3(chr11:90492596-91725920)x1 http://identifiers.org/clinvar/149085 ^@ GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 http://identifiers.org/clinvar/149086 ^@ GRCh38/hg38 7q11.22(chr7:70206515-70493590)x1 http://identifiers.org/clinvar/149087 ^@ GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 http://identifiers.org/clinvar/149088 ^@ GRCh38/hg38 3q11.2(chr3:98023760-98332789)x1 http://identifiers.org/clinvar/149089 ^@ GRCh38/hg38 1q43(chr1:243173925-243462410)x1 http://identifiers.org/clinvar/149090 ^@ GRCh38/hg38 9p24.3(chr9:204104-291408)x3 http://identifiers.org/clinvar/149091 ^@ GRCh38/hg38 18q23(chr18:78507911-80254946)x1 http://identifiers.org/clinvar/149092 ^@ GRCh38/hg38 14q31.1(chr14:80454755-81069410)x1 http://identifiers.org/clinvar/149094 ^@ GRCh38/hg38 9q31.2(chr9:106830931-107428889)x3 http://identifiers.org/clinvar/149095 ^@ GRCh38/hg38 7p21.1(chr7:17198359-17893255)x3 http://identifiers.org/clinvar/149096 ^@ GRCh38/hg38 11p13(chr11:31796707-31924368)x3 http://identifiers.org/clinvar/149097 ^@ GRCh38/hg38 11p11.2(chr11:48067028-48761561)x3 http://identifiers.org/clinvar/149098 ^@ GRCh38/hg38 22q13.31(chr22:47489557-48038533)x3 http://identifiers.org/clinvar/149099 ^@ GRCh38/hg38 11q22.1(chr11:98806292-99946244)x1 http://identifiers.org/clinvar/149100 ^@ GRCh38/hg38 16p13.2(chr16:8994630-9793745)x3 http://identifiers.org/clinvar/149103 ^@ GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 http://identifiers.org/clinvar/149104 ^@ GRCh38/hg38 22q13.33(chr22:50694375-50780581)x1 http://identifiers.org/clinvar/149105 ^@ GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1 http://identifiers.org/clinvar/149106 ^@ GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 http://identifiers.org/clinvar/149107 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 http://identifiers.org/clinvar/149108 ^@ GRCh38/hg38 5p15.33(chr5:22149-946680)x1 http://identifiers.org/clinvar/149109 ^@ GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3 http://identifiers.org/clinvar/149110 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1 http://identifiers.org/clinvar/149111 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 http://identifiers.org/clinvar/149112 ^@ GRCh38/hg38 2q14.2(chr2:120815240-120979362)x3 http://identifiers.org/clinvar/149113 ^@ GRCh38/hg38 Xp22.31(chrX:6865059-7776150)x0 http://identifiers.org/clinvar/149114 ^@ GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 http://identifiers.org/clinvar/149115 ^@ GRCh38/hg38 2p22.2(chr2:38013370-38232603)x1 http://identifiers.org/clinvar/149117 ^@ GRCh38/hg38 7q31.1(chr7:111465095-111830755)x1 http://identifiers.org/clinvar/149118 ^@ GRCh38/hg38 12q21.2-21.31(chr12:79555742-79970429)x1 http://identifiers.org/clinvar/149119 ^@ GRCh38/hg38 3p26.3(chr3:2683203-2787471)x1 http://identifiers.org/clinvar/149120 ^@ GRCh38/hg38 3p24.3(chr3:17296744-17535200)x1 http://identifiers.org/clinvar/149121 ^@ GRCh38/hg38 13q22.1(chr13:73231067-73764939)x3 http://identifiers.org/clinvar/149122 ^@ GRCh38/hg38 18p11.32(chr18:967505-1652748)x3 http://identifiers.org/clinvar/149123 ^@ GRCh38/hg38 2q33.1(chr2:197793546-198667205)x3 http://identifiers.org/clinvar/149124 ^@ GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3 http://identifiers.org/clinvar/149125 ^@ GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4 http://identifiers.org/clinvar/149126 ^@ GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1 http://identifiers.org/clinvar/149127 ^@ GRCh38/hg38 Yp11.31-11.2(chrY:567777-664161)x1 http://identifiers.org/clinvar/149129 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 http://identifiers.org/clinvar/149130 ^@ GRCh38/hg38 Xp21.2-21.1(chrX:31189847-31945183)x2 http://identifiers.org/clinvar/149131 ^@ GRCh38/hg38 12p13.33(chr12:54427-936828)x1 http://identifiers.org/clinvar/149132 ^@ GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1 http://identifiers.org/clinvar/149133 ^@ GRCh38/hg38 14q21.2(chr14:44479622-44772189)x1 http://identifiers.org/clinvar/149134 ^@ GRCh38/hg38 4q25(chr4:110024303-110313915)x1 http://identifiers.org/clinvar/149136 ^@ GRCh38/hg38 Yq11.221(chrY:14587338-15252208)x2 http://identifiers.org/clinvar/149137 ^@ GRCh38/hg38 16p12.3(chr16:16753846-18768479)x3 http://identifiers.org/clinvar/149138 ^@ GRCh38/hg38 3q13.31-13.32(chr3:116366433-119033600)x3 http://identifiers.org/clinvar/149139 ^@ GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1 http://identifiers.org/clinvar/149142 ^@ GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 http://identifiers.org/clinvar/149143 ^@ GRCh38/hg38 4p15.33(chr4:12959891-14417711)x3 http://identifiers.org/clinvar/149144 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 http://identifiers.org/clinvar/149145 ^@ GRCh38/hg38 15q13.3(chr15:32170441-32569425)x3 http://identifiers.org/clinvar/149146 ^@ GRCh38/hg38 17p13.3(chr17:162016-1682817)x3 http://identifiers.org/clinvar/149150 ^@ GRCh38/hg38 3q22.2-22.3(chr3:135930259-136445332)x3 http://identifiers.org/clinvar/149151 ^@ GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3 http://identifiers.org/clinvar/149152 ^@ GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3 http://identifiers.org/clinvar/149153 ^@ GRCh38/hg38 1p31.3(chr1:66616829-66948603)x1 http://identifiers.org/clinvar/149154 ^@ GRCh38/hg38 5q12.1(chr5:61610054-62739543)x3 http://identifiers.org/clinvar/149155 ^@ GRCh38/hg38 1q24.2(chr1:168498046-169184625)x4 http://identifiers.org/clinvar/149156 ^@ GRCh38/hg38 14q12(chr14:26905754-27478931)x1 http://identifiers.org/clinvar/149157 ^@ GRCh38/hg38 Xp11.4(chrX:41787211-41795764)x1 http://identifiers.org/clinvar/149158 ^@ GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 http://identifiers.org/clinvar/149159 ^@ GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 http://identifiers.org/clinvar/149160 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 http://identifiers.org/clinvar/149164 ^@ GRCh38/hg38 12q14.1(chr12:59353117-60085960)x1 http://identifiers.org/clinvar/149165 ^@ GRCh38/hg38 13q21.2(chr13:59865170-60087340)x1 http://identifiers.org/clinvar/149166 ^@ GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 http://identifiers.org/clinvar/149167 ^@ GRCh38/hg38 14q31.3(chr14:86155419-88321735)x3 http://identifiers.org/clinvar/149168 ^@ GRCh38/hg38 18q22.1(chr18:68371637-68733375)x1 http://identifiers.org/clinvar/149169 ^@ GRCh38/hg38 17p13.3(chr17:1332460-1355696)x3 http://identifiers.org/clinvar/149170 ^@ GRCh38/hg38 9q21.33-22.1(chr9:87209403-87977877)x3 http://identifiers.org/clinvar/149171 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 http://identifiers.org/clinvar/149172 ^@ GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 http://identifiers.org/clinvar/149175 ^@ GRCh38/hg38 8p23.3(chr8:226452-1073572)x1 http://identifiers.org/clinvar/149176 ^@ GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 http://identifiers.org/clinvar/149177 ^@ GRCh38/hg38 5q14.3(chr5:88766676-88808855)x1 http://identifiers.org/clinvar/149178 ^@ GRCh38/hg38 11q24.2-24.3(chr11:126694855-127969115)x1 http://identifiers.org/clinvar/149180 ^@ GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3 http://identifiers.org/clinvar/149181 ^@ GRCh38/hg38 15q26.3(chr15:98669058-98873604)x3 http://identifiers.org/clinvar/149182 ^@ GRCh38/hg38 17p13.3(chr17:1311837-1530439)x3 http://identifiers.org/clinvar/149184 ^@ GRCh38/hg38 Xq21.31(chrX:88496462-88829953)x1 http://identifiers.org/clinvar/149185 ^@ GRCh38/hg38 5p15.2(chr5:11042340-14796203)x1 http://identifiers.org/clinvar/149186 ^@ GRCh38/hg38 3q26.31-26.32(chr3:175388190-176027582)x1 http://identifiers.org/clinvar/149187 ^@ GRCh38/hg38 4q34.3(chr4:181078045-181624596)x1 http://identifiers.org/clinvar/149188 ^@ GRCh38/hg38 Xp21.2(chrX:29415178-29922758)x2 http://identifiers.org/clinvar/149189 ^@ GRCh38/hg38 Xp21.1(chrX:37581547-37703226)x2 http://identifiers.org/clinvar/149190 ^@ GRCh38/hg38 9q34.3(chr9:137830545-138124532)x3 http://identifiers.org/clinvar/149191 ^@ GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 http://identifiers.org/clinvar/149193 ^@ GRCh38/hg38 17p13.3(chr17:162016-2099130)x1 http://identifiers.org/clinvar/149194 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1 http://identifiers.org/clinvar/149195 ^@ GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 http://identifiers.org/clinvar/149196 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 http://identifiers.org/clinvar/149197 ^@ GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1 http://identifiers.org/clinvar/149198 ^@ GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1 http://identifiers.org/clinvar/149199 ^@ GRCh38/hg38 Xp22.33(chrX:2308642-2854046)x3 http://identifiers.org/clinvar/149200 ^@ GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 http://identifiers.org/clinvar/149202 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 http://identifiers.org/clinvar/149203 ^@ GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 http://identifiers.org/clinvar/149204 ^@ GRCh38/hg38 21q11.2(chr21:14110251-14311064)x3 http://identifiers.org/clinvar/149206 ^@ GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1 http://identifiers.org/clinvar/149207 ^@ GRCh38/hg38 Yq11.221(chrY:12608752-13107818)x0 http://identifiers.org/clinvar/149208 ^@ GRCh38/hg38 10p15.1(chr10:4836712-5161722)x1 http://identifiers.org/clinvar/149209 ^@ GRCh38/hg38 13q32.1(chr13:95970073-96571702)x1 http://identifiers.org/clinvar/149210 ^@ GRCh38/hg38 10p15.3(chr10:405014-457520)x1 http://identifiers.org/clinvar/149211 ^@ GRCh38/hg38 9p21.1(chr9:29457749-32172668)x3 http://identifiers.org/clinvar/149212 ^@ GRCh38/hg38 9p23(chr9:10648009-11457399)x1 http://identifiers.org/clinvar/149213 ^@ GRCh38/hg38 20p12.1(chr20:14648477-14857630)x1 http://identifiers.org/clinvar/149214 ^@ GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3 http://identifiers.org/clinvar/149215 ^@ GRCh38/hg38 Yq11.222(chrY:17951462-18799924)x2 http://identifiers.org/clinvar/149216 ^@ GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3 http://identifiers.org/clinvar/149217 ^@ GRCh38/hg38 Xq13.1(chrX:70494282-70536572)x3 http://identifiers.org/clinvar/149218 ^@ GRCh38/hg38 7p11.2(chr7:53968021-54509036)x3 http://identifiers.org/clinvar/149219 ^@ GRCh38/hg38 Xp11.4(chrX:39263814-39773443)x3 http://identifiers.org/clinvar/149221 ^@ GRCh38/hg38 7q35(chr7:143560424-144169056)x3 http://identifiers.org/clinvar/149222 ^@ GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x2 http://identifiers.org/clinvar/149223 ^@ GRCh38/hg38 20q13.33(chr20:61326548-61935972)x3 http://identifiers.org/clinvar/149224 ^@ GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x3 http://identifiers.org/clinvar/149225 ^@ GRCh38/hg38 7q21.13(chr7:88789989-89802049)x3 http://identifiers.org/clinvar/149227 ^@ GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3 http://identifiers.org/clinvar/149229 ^@ GRCh38/hg38 4q22.1(chr4:91585251-92298185)x3 http://identifiers.org/clinvar/149231 ^@ GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1 http://identifiers.org/clinvar/149232 ^@ GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3 http://identifiers.org/clinvar/149233 ^@ GRCh38/hg38 Xq22.1(chrX:100286152-100924659)x2 http://identifiers.org/clinvar/149234 ^@ GRCh38/hg38 8q12.3(chr8:62598005-63822225)x1 http://identifiers.org/clinvar/149235 ^@ GRCh38/hg38 10p11.21(chr10:34239065-34655264)x1 http://identifiers.org/clinvar/149236 ^@ GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1 http://identifiers.org/clinvar/149239 ^@ GRCh38/hg38 16p11.2(chr16:28813473-29032639)x1 http://identifiers.org/clinvar/149240 ^@ GRCh38/hg38 Xq28(chrX:149474154-149506155)x0 http://identifiers.org/clinvar/149241 ^@ GRCh38/hg38 14q11.2(chr14:23390903-23414236)x1 http://identifiers.org/clinvar/149242 ^@ GRCh38/hg38 10q22.2(chr10:74195087-74468002)x1 http://identifiers.org/clinvar/149243 ^@ GRCh38/hg38 6q22.33(chr6:129038932-129335187)x1 http://identifiers.org/clinvar/149244 ^@ GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1 http://identifiers.org/clinvar/149245 ^@ GRCh38/hg38 15q26.1(chr15:89821144-90216589)x1 http://identifiers.org/clinvar/149246 ^@ GRCh38/hg38 9q33.1(chr9:116700194-116814307)x1 http://identifiers.org/clinvar/149248 ^@ GRCh38/hg38 8p22(chr8:17389229-17925178)x3 http://identifiers.org/clinvar/149250 ^@ GRCh38/hg38 10q25.1(chr10:104077161-108350985)x3 http://identifiers.org/clinvar/149251 ^@ GRCh38/hg38 Xp22.31(chrX:7088464-7325303)x2 http://identifiers.org/clinvar/149252 ^@ GRCh38/hg38 Xq27.1(chrX:140427884-140719116)x3 http://identifiers.org/clinvar/149253 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2628659-3001914)x3 http://identifiers.org/clinvar/149254 ^@ GRCh38/hg38 Xp22.33(chrX:916820-1419770)x3 http://identifiers.org/clinvar/149255 ^@ GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 http://identifiers.org/clinvar/149256 ^@ GRCh38/hg38 9p24.3(chr9:204104-1457665)x1 http://identifiers.org/clinvar/149257 ^@ GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 http://identifiers.org/clinvar/149258 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 http://identifiers.org/clinvar/149260 ^@ GRCh38/hg38 4p15.31(chr4:20722810-20936625)x1 http://identifiers.org/clinvar/149261 ^@ GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1 http://identifiers.org/clinvar/149262 ^@ GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 http://identifiers.org/clinvar/149264 ^@ GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1 http://identifiers.org/clinvar/149265 ^@ GRCh38/hg38 3q28(chr3:188491113-188671505)x1 http://identifiers.org/clinvar/149266 ^@ GRCh38/hg38 4q22.3(chr4:94616498-95446867)x3 http://identifiers.org/clinvar/149267 ^@ GRCh38/hg38 15q26.3(chr15:98873545-99363146)x3 http://identifiers.org/clinvar/149268 ^@ GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3 http://identifiers.org/clinvar/149269 ^@ GRCh38/hg38 7p22.3(chr7:689554-2031521)x3 http://identifiers.org/clinvar/149270 ^@ GRCh38/hg38 Xp22.31(chrX:6220493-7169709)x3 http://identifiers.org/clinvar/149271 ^@ GRCh38/hg38 10p15.3-15.2(chr10:538646-3636571)x1 http://identifiers.org/clinvar/149272 ^@ GRCh38/hg38 10p14(chr10:11738467-12180308)x1 http://identifiers.org/clinvar/149273 ^@ GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3 http://identifiers.org/clinvar/149274 ^@ GRCh38/hg38 17q25.3(chr17:82625521-83056395)x1 http://identifiers.org/clinvar/149275 ^@ GRCh38/hg38 7p22.2(chr7:4024243-4262408)x1 http://identifiers.org/clinvar/149276 ^@ GRCh38/hg38 6p22.1(chr6:28954915-29358240)x1 http://identifiers.org/clinvar/149277 ^@ GRCh38/hg38 14q31.1(chr14:79543276-79651972)x1 http://identifiers.org/clinvar/149279 ^@ GRCh38/hg38 2q33.1(chr2:202381624-202412885)x1 http://identifiers.org/clinvar/149280 ^@ GRCh38/hg38 Xp22.33(chrX:645041-1132757)x3 http://identifiers.org/clinvar/149282 ^@ GRCh38/hg38 Xq13.1(chrX:72351800-72942215)x3 http://identifiers.org/clinvar/149283 ^@ GRCh38/hg38 3q13.33(chr3:120601884-121357490)x3 http://identifiers.org/clinvar/149284 ^@ GRCh38/hg38 3p26.3(chr3:1920995-2164995)x3 http://identifiers.org/clinvar/149285 ^@ GRCh38/hg38 10q21.3(chr10:66616757-67476125)x3 http://identifiers.org/clinvar/149286 ^@ GRCh38/hg38 1q44(chr1:244998996-246049903)x3 http://identifiers.org/clinvar/149287 ^@ GRCh38/hg38 8p23.1-22(chr8:12633363-13767233)x3 http://identifiers.org/clinvar/149289 ^@ GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 http://identifiers.org/clinvar/149290 ^@ GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 http://identifiers.org/clinvar/149291 ^@ GRCh38/hg38 Yq11.223-11.23(chrY:22727003-25749348)x0 http://identifiers.org/clinvar/149292 ^@ GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3 http://identifiers.org/clinvar/149293 ^@ GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1 http://identifiers.org/clinvar/149296 ^@ GRCh38/hg38 15q11.2(chr15:22782794-23066575)x1 http://identifiers.org/clinvar/149298 ^@ GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3 http://identifiers.org/clinvar/149300 ^@ GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1 http://identifiers.org/clinvar/149302 ^@ GRCh38/hg38 14q21.1(chr14:39475627-39696166)x1 http://identifiers.org/clinvar/149304 ^@ GRCh38/hg38 10p15.3(chr10:490764-770688)x3 http://identifiers.org/clinvar/149305 ^@ GRCh38/hg38 4q32.1-32.2(chr4:160699297-161498447)x3 http://identifiers.org/clinvar/149306 ^@ GRCh38/hg38 10p15.3(chr10:167511-286467)x3 http://identifiers.org/clinvar/149307 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 http://identifiers.org/clinvar/149308 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1 http://identifiers.org/clinvar/149309 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3 http://identifiers.org/clinvar/149310 ^@ GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1 http://identifiers.org/clinvar/149313 ^@ GRCh38/hg38 8p23.2(chr8:2868312-3433790)x3 http://identifiers.org/clinvar/149314 ^@ GRCh38/hg38 Yq11.222(chrY:18545732-19487468)x2 http://identifiers.org/clinvar/149316 ^@ GRCh38/hg38 2p16.3(chr2:50953423-51131743)x1 http://identifiers.org/clinvar/149317 ^@ GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3 http://identifiers.org/clinvar/149318 ^@ GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3 http://identifiers.org/clinvar/149319 ^@ GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3 http://identifiers.org/clinvar/149320 ^@ GRCh38/hg38 7p22.3(chr7:45130-821632)x1 http://identifiers.org/clinvar/149321 ^@ GRCh38/hg38 2q13(chr2:110049995-110576905)x3 http://identifiers.org/clinvar/149323 ^@ GRCh38/hg38 16p13.3(chr16:6514970-6681910)x1 http://identifiers.org/clinvar/149324 ^@ GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 http://identifiers.org/clinvar/149325 ^@ GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1 http://identifiers.org/clinvar/149326 ^@ GRCh38/hg38 8q24.21-24.22(chr8:130012847-130655332)x1 http://identifiers.org/clinvar/149327 ^@ GRCh38/hg38 4q35.2(chr4:189476888-190095391)x1 http://identifiers.org/clinvar/149328 ^@ GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 http://identifiers.org/clinvar/149329 ^@ GRCh38/hg38 Xp22.31(chrX:6837101-7899318)x0 http://identifiers.org/clinvar/149330 ^@ GRCh38/hg38 5p15.2(chr5:12336762-12849471)x1 http://identifiers.org/clinvar/149333 ^@ GRCh38/hg38 2p16.3(chr2:50008168-50041168)x1 http://identifiers.org/clinvar/149334 ^@ GRCh38/hg38 14q21.3(chr14:50145165-50325850)x3 http://identifiers.org/clinvar/149337 ^@ GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1 http://identifiers.org/clinvar/149338 ^@ GRCh38/hg38 Xp22.33(chrX:821293-833657)x0 http://identifiers.org/clinvar/149339 ^@ GRCh38/hg38 18q12.2(chr18:36834673-37222586)x3 http://identifiers.org/clinvar/149340 ^@ GRCh38/hg38 13q21.1(chr13:56413402-56732202)x1 http://identifiers.org/clinvar/149341 ^@ GRCh38/hg38 15q26.3(chr15:101395560-101843276)x3 http://identifiers.org/clinvar/149342 ^@ GRCh38/hg38 2q13(chr2:110104897-110371270)x1 http://identifiers.org/clinvar/149343 ^@ GRCh38/hg38 7q34(chr7:142752048-142753000)x1 http://identifiers.org/clinvar/149344 ^@ GRCh38/hg38 17p11.2(chr17:19031805-19185457)x1 http://identifiers.org/clinvar/149345 ^@ GRCh38/hg38 5q21.1(chr5:99875467-99952512)x1 http://identifiers.org/clinvar/149346 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25299501-25507844)x3 http://identifiers.org/clinvar/149347 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25299501-25507844)x1 http://identifiers.org/clinvar/149348 ^@ GRCh38/hg38 Xq21.31(chrX:91235183-91256659)x1 http://identifiers.org/clinvar/149349 ^@ GRCh38/hg38 7p21.2(chr7:14404259-14584643)x1 http://identifiers.org/clinvar/149350 ^@ GRCh38/hg38 14q32.33(chr14:106707789-106771879)x1 http://identifiers.org/clinvar/149351 ^@ GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 http://identifiers.org/clinvar/149352 ^@ GRCh38/hg38 3p24.3(chr3:17315550-17626771)x1 http://identifiers.org/clinvar/149353 ^@ GRCh38/hg38 6q27(chr6:167963618-168157198)x3 http://identifiers.org/clinvar/149354 ^@ GRCh38/hg38 14q21.2(chr14:43169509-43709934)x3 http://identifiers.org/clinvar/149357 ^@ GRCh38/hg38 8p11.22(chr8:39379923-39505396)x3 http://identifiers.org/clinvar/149359 ^@ GRCh38/hg38 4p16.1(chr4:9813220-11009701)x3 http://identifiers.org/clinvar/149364 ^@ GRCh38/hg38 Xp22.33(chrX:391777-392429)x0 http://identifiers.org/clinvar/149367 ^@ GRCh38/hg38 22q11.21(chr22:18178932-18996999)x1 http://identifiers.org/clinvar/149368 ^@ GRCh38/hg38 7p21.3(chr7:8162001-8514772)x3 http://identifiers.org/clinvar/149370 ^@ GRCh38/hg38 17p13.2(chr17:3637051-3661051)x1 http://identifiers.org/clinvar/149372 ^@ GRCh38/hg38 7q34(chr7:142749675-142753076)x3 http://identifiers.org/clinvar/149376 ^@ GRCh38/hg38 6q27(chr6:170460124-170535701)x3 http://identifiers.org/clinvar/149377 ^@ GRCh38/hg38 13q21.31-21.32(chr13:64957363-65260745)x1 http://identifiers.org/clinvar/149378 ^@ GRCh38/hg38 Xq21.31(chrX:91946774-91984203)x0 http://identifiers.org/clinvar/149380 ^@ GRCh38/hg38 15q15.3(chr15:43624777-43659119)x1 http://identifiers.org/clinvar/149381 ^@ GRCh38/hg38 7q11.23(chr7:76584731-76882524)x3 http://identifiers.org/clinvar/149383 ^@ GRCh38/hg38 10q11.22(chr10:46146977-46737090)x3 http://identifiers.org/clinvar/149384 ^@ GRCh38/hg38 15q11.2(chr15:25084469-25088727)x1 http://identifiers.org/clinvar/149385 ^@ GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 http://identifiers.org/clinvar/149386 ^@ GRCh38/hg38 8p11.1(chr8:43516300-43532104)x3 http://identifiers.org/clinvar/149390 ^@ GRCh38/hg38 11q12.1(chr11:57047366-57372313)x3 http://identifiers.org/clinvar/149391 ^@ GRCh38/hg38 12p13.31(chr12:7855211-7965604)x3 http://identifiers.org/clinvar/149392 ^@ GRCh38/hg38 1q32.1(chr1:202463130-202550476)x3 http://identifiers.org/clinvar/149393 ^@ GRCh38/hg38 8q11.23(chr8:52513649-52822370)x3 http://identifiers.org/clinvar/149395 ^@ GRCh38/hg38 10q21.1(chr10:53051046-54726547)x1 http://identifiers.org/clinvar/149396 ^@ GRCh38/hg38 3p14.2(chr3:60102749-60254925)x1 http://identifiers.org/clinvar/149397 ^@ GRCh38/hg38 1q43(chr1:242894414-243024138)x3 http://identifiers.org/clinvar/149398 ^@ GRCh38/hg38 Xp11.23(chrX:49316870-49343053)x2 http://identifiers.org/clinvar/149399 ^@ GRCh38/hg38 5q13.2(chr5:69924865-70167401)x1 http://identifiers.org/clinvar/149400 ^@ GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2 http://identifiers.org/clinvar/149401 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3 http://identifiers.org/clinvar/149402 ^@ GRCh38/hg38 20q13.32(chr20:58889588-58890885)x1 http://identifiers.org/clinvar/149403 ^@ GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3 http://identifiers.org/clinvar/149404 ^@ GRCh38/hg38 2p11.2(chr2:87453471-87583817)x1 http://identifiers.org/clinvar/149406 ^@ GRCh38/hg38 16p13.11(chr16:14954803-15022564)x1 http://identifiers.org/clinvar/149407 ^@ GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 http://identifiers.org/clinvar/149408 ^@ GRCh38/hg38 Xp22.33(chrX:946724-1132649)x3 http://identifiers.org/clinvar/149409 ^@ GRCh38/hg38 17q21.31(chr17:46273730-46661960)x1 http://identifiers.org/clinvar/149410 ^@ GRCh38/hg38 7q36.3(chr7:159049139-159127497)x3 http://identifiers.org/clinvar/149411 ^@ GRCh38/hg38 21q22.12(chr21:35962008-35979025)x1 http://identifiers.org/clinvar/149412 ^@ GRCh38/hg38 16p11.2(chr16:28813473-29033455)x1 http://identifiers.org/clinvar/149415 ^@ GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1 http://identifiers.org/clinvar/149417 ^@ GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 http://identifiers.org/clinvar/149418 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 http://identifiers.org/clinvar/149419 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 http://identifiers.org/clinvar/149420 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 http://identifiers.org/clinvar/149421 ^@ GRCh38/hg38 15q11.2(chr15:22623415-23066575)x1 http://identifiers.org/clinvar/149422 ^@ GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3 http://identifiers.org/clinvar/149424 ^@ GRCh38/hg38 17p12(chr17:14208455-15579558)x1 http://identifiers.org/clinvar/149425 ^@ GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3 http://identifiers.org/clinvar/149426 ^@ GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1 http://identifiers.org/clinvar/149427 ^@ GRCh38/hg38 Yq11.223(chrY:22652856-23140819)x2 http://identifiers.org/clinvar/149428 ^@ GRCh38/hg38 1q23.3(chr1:161589951-161680659)x1 http://identifiers.org/clinvar/149429 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25268683-25507780)x3 http://identifiers.org/clinvar/149430 ^@ GRCh38/hg38 Xp22.33(chrX:1085618-1285905)x3 http://identifiers.org/clinvar/149432 ^@ GRCh38/hg38 8p23.3(chr8:1027114-1420499)x1 http://identifiers.org/clinvar/149433 ^@ GRCh38/hg38 3q28(chr3:191526930-191762185)x3 http://identifiers.org/clinvar/149434 ^@ GRCh38/hg38 Yq11.23(chrY:24050514-24140521)x2 http://identifiers.org/clinvar/149435 ^@ GRCh38/hg38 8p23.2(chr8:2605460-4821349)x3 http://identifiers.org/clinvar/149436 ^@ GRCh38/hg38 4q13.2(chr4:68526912-68617567)x3 http://identifiers.org/clinvar/149437 ^@ GRCh38/hg38 4q13.2(chr4:68526912-68617567)x1 http://identifiers.org/clinvar/149438 ^@ GRCh38/hg38 6p25.3(chr6:259531-366639)x1 http://identifiers.org/clinvar/149439 ^@ GRCh38/hg38 17q12(chr17:36104374-36421711)x3 http://identifiers.org/clinvar/149440 ^@ GRCh38/hg38 22q11.21(chr22:18178932-18860507)x3 http://identifiers.org/clinvar/149441 ^@ GRCh38/hg38 4q35.2(chr4:189310642-189388227)x3 http://identifiers.org/clinvar/149442 ^@ GRCh38/hg38 14q11.2(chr14:22130104-22343431)x3 http://identifiers.org/clinvar/149443 ^@ GRCh38/hg38 17q21.31(chr17:46219761-46275893)x3 http://identifiers.org/clinvar/149444 ^@ GRCh38/hg38 6p21.32(chr6:32489152-32569033)x3 http://identifiers.org/clinvar/149445 ^@ GRCh38/hg38 7q35(chr7:144227698-144354186)x3 http://identifiers.org/clinvar/149446 ^@ GRCh38/hg38 15q15.3(chr15:43596754-43659119)x1 http://identifiers.org/clinvar/149447 ^@ GRCh38/hg38 22q11.21(chr22:18339130-18659564)x3 http://identifiers.org/clinvar/149448 ^@ GRCh38/hg38 Xp22.31(chrX:6534654-8129470)x2 http://identifiers.org/clinvar/149449 ^@ GRCh38/hg38 Xp22.31(chrX:6534654-8129470)x0 http://identifiers.org/clinvar/149450 ^@ GRCh38/hg38 14q11.2(chr14:22021665-22324997)x3 http://identifiers.org/clinvar/149451 ^@ GRCh38/hg38 9p24.3(chr9:266054-332539)x3 http://identifiers.org/clinvar/149452 ^@ GRCh38/hg38 13q31.1(chr13:81155414-81389403)x1 http://identifiers.org/clinvar/149453 ^@ GRCh38/hg38 14q11.2(chr14:19785749-19938168)x1 http://identifiers.org/clinvar/149454 ^@ GRCh38/hg38 3q26.1(chr3:162822888-162893267)x3 http://identifiers.org/clinvar/149455 ^@ GRCh38/hg38 3q26.1(chr3:162822888-162893267)x1 http://identifiers.org/clinvar/149456 ^@ GRCh38/hg38 6p21.32(chr6:32529565-32721089)x3 http://identifiers.org/clinvar/149457 ^@ GRCh37/hg19 1q21.2(chr1:149041023-149433207)x3 http://identifiers.org/clinvar/149459 ^@ GRCh38/hg38 10q11.22(chr10:46146977-46737090)x1 http://identifiers.org/clinvar/149460 ^@ GRCh38/hg38 15q11.2(chr15:25087769-25088727)x1 http://identifiers.org/clinvar/149461 ^@ GRCh38/hg38 6q16.3(chr6:104177944-104367318)x1 http://identifiers.org/clinvar/149462 ^@ GRCh38/hg38 6q14.1(chr6:80425171-80657032)x3 http://identifiers.org/clinvar/149463 ^@ GRCh38/hg38 Xp11.4(chrX:37955473-38120350)x3 http://identifiers.org/clinvar/149464 ^@ GRCh38/hg38 6q14.1(chr6:78164484-78335581)x3 http://identifiers.org/clinvar/149465 ^@ GRCh38/hg38 4q35.2(chr4:187889777-188486687)x3 http://identifiers.org/clinvar/149466 ^@ GRCh38/hg38 15q11.2(chr15:25073275-25088727)x1 http://identifiers.org/clinvar/149467 ^@ GRCh38/hg38 2q36.3(chr2:226637143-226858469)x3 http://identifiers.org/clinvar/149468 ^@ GRCh38/hg38 14q21.3(chr14:48317558-48437142)x1 http://identifiers.org/clinvar/149469 ^@ GRCh38/hg38 8q12.1(chr8:55751116-55937248)x3 http://identifiers.org/clinvar/149470 ^@ GRCh38/hg38 15q26.2(chr15:96329890-96332571)x1 http://identifiers.org/clinvar/149471 ^@ GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3 http://identifiers.org/clinvar/149472 ^@ GRCh38/hg38 9p23(chr9:11904185-12074236)x1 http://identifiers.org/clinvar/149473 ^@ GRCh38/hg38 20p12.1(chr20:14775756-15060884)x1 http://identifiers.org/clinvar/149474 ^@ GRCh38/hg38 Xq21.31(chrX:90208331-90239333)x1 http://identifiers.org/clinvar/149475 ^@ GRCh38/hg38 4p16.3(chr4:37335-72487)x1 http://identifiers.org/clinvar/149476 ^@ GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1 http://identifiers.org/clinvar/149477 ^@ GRCh38/hg38 3q29(chr3:194296197-198110198)x3 http://identifiers.org/clinvar/149478 ^@ GRCh38/hg38 Xq21.31(chrX:90208331-90239333)x0 http://identifiers.org/clinvar/149479 ^@ GRCh38/hg38 11q25(chr11:134788708-134821514)x1 http://identifiers.org/clinvar/149480 ^@ GRCh38/hg38 1q31.3(chr1:194649130-194965845)x3 http://identifiers.org/clinvar/149481 ^@ GRCh38/hg38 18q23(chr18:80086715-80129090)x3 http://identifiers.org/clinvar/149482 ^@ GRCh38/hg38 8p23.3(chr8:451226-492359)x3 http://identifiers.org/clinvar/149483 ^@ GRCh38/hg38 9p24.3(chr9:639018-753199)x1 http://identifiers.org/clinvar/149484 ^@ GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 http://identifiers.org/clinvar/149486 ^@ GRCh38/hg38 9p24.3(chr9:204090-416321)x1 http://identifiers.org/clinvar/149487 ^@ GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 http://identifiers.org/clinvar/149488 ^@ GRCh38/hg38 13q34(chr13:114242325-114282241)x3 http://identifiers.org/clinvar/149489 ^@ GRCh38/hg38 2p14(chr2:65855728-66532583)x3 http://identifiers.org/clinvar/149490 ^@ GRCh38/hg38 21q21.1(chr21:16650494-16967679)x3 http://identifiers.org/clinvar/149491 ^@ GRCh38/hg38 6p25.3(chr6:815838-1093342)x3 http://identifiers.org/clinvar/149492 ^@ GRCh38/hg38 Xp22.33(chrX:3057062-3222943)x3 http://identifiers.org/clinvar/149493 ^@ GRCh38/hg38 15q13.2(chr15:30361656-30785793)x3 http://identifiers.org/clinvar/149494 ^@ GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1 http://identifiers.org/clinvar/149495 ^@ GRCh38/hg38 18p11.32(chr18:225017-287764)x3 http://identifiers.org/clinvar/149496 ^@ GRCh38/hg38 7q11.21(chr7:62506780-63047899)x3 http://identifiers.org/clinvar/149498 ^@ GRCh38/hg38 15q11.2(chr15:24823754-24837359)x1 http://identifiers.org/clinvar/149499 ^@ GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1 http://identifiers.org/clinvar/149500 ^@ GRCh38/hg38 2q13(chr2:109975072-110207198)x3 http://identifiers.org/clinvar/149501 ^@ GRCh38/hg38 7q34(chr7:142728507-142752607)x3 http://identifiers.org/clinvar/149502 ^@ GRCh38/hg38 12p11.1(chr12:33899474-34603261)x3 http://identifiers.org/clinvar/149503 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x1 http://identifiers.org/clinvar/149504 ^@ GRCh38/hg38 7q11.23(chr7:76509969-76882524)x3 http://identifiers.org/clinvar/149505 ^@ GRCh38/hg38 Xq28(chrX:153688786-153697468)x3 http://identifiers.org/clinvar/149512 ^@ GRCh38/hg38 9q32(chr9:112617320-112826069)x3 http://identifiers.org/clinvar/149513 ^@ GRCh38/hg38 1p21.1(chr1:103642842-103668450)x1 http://identifiers.org/clinvar/149516 ^@ GRCh38/hg38 1q31.3(chr1:196775791-196830176)x1 http://identifiers.org/clinvar/149520 ^@ GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1 http://identifiers.org/clinvar/149521 ^@ GRCh38/hg38 Xp11.4(chrX:38629364-38769503)x3 http://identifiers.org/clinvar/149522 ^@ GRCh38/hg38 Xp11.4(chrX:38629364-38769503)x2 http://identifiers.org/clinvar/149523 ^@ GRCh38/hg38 16p13.11(chr16:15398450-16198378)x1 http://identifiers.org/clinvar/149525 ^@ GRCh38/hg38 2q37.3(chr2:239135440-240003606)x3 http://identifiers.org/clinvar/149529 ^@ GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3 http://identifiers.org/clinvar/149530 ^@ GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 http://identifiers.org/clinvar/149531 ^@ GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 http://identifiers.org/clinvar/149532 ^@ GRCh38/hg38 17q25.3(chr17:82884871-83102552)x1 http://identifiers.org/clinvar/149534 ^@ GRCh38/hg38 5q21.2-21.3(chr5:105077005-105308393)x1 http://identifiers.org/clinvar/149535 ^@ GRCh38/hg38 Xq25(chrX:127894686-128374021)x1 http://identifiers.org/clinvar/149538 ^@ GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1 http://identifiers.org/clinvar/149540 ^@ GRCh38/hg38 Xp11.22(chrX:51701448-53065696)x0 http://identifiers.org/clinvar/149543 ^@ GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 http://identifiers.org/clinvar/149544 ^@ GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 http://identifiers.org/clinvar/149545 ^@ GRCh38/hg38 9p23-22.3(chr9:14182609-14903052)x1 http://identifiers.org/clinvar/149546 ^@ GRCh38/hg38 Xp22.33(chrX:1659923-2494472)x3 http://identifiers.org/clinvar/149547 ^@ GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 http://identifiers.org/clinvar/149548 ^@ GRCh38/hg38 6p12.3(chr6:49345635-49462709)x0 http://identifiers.org/clinvar/149549 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 http://identifiers.org/clinvar/149550 ^@ GRCh38/hg38 7q11.21(chr7:62992593-63370559)x1 http://identifiers.org/clinvar/149551 ^@ GRCh38/hg38 21q21.3(chr21:25879180-25896618)x3 http://identifiers.org/clinvar/149552 ^@ GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3 http://identifiers.org/clinvar/149553 ^@ GRCh38/hg38 Yq11.221-11.222(chrY:16814285-17454794)x2 http://identifiers.org/clinvar/149554 ^@ GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 http://identifiers.org/clinvar/149555 ^@ GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1 http://identifiers.org/clinvar/149556 ^@ GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 http://identifiers.org/clinvar/149557 ^@ GRCh38/hg38 3p26.3(chr3:2459369-2608200)x1 http://identifiers.org/clinvar/149558 ^@ GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4 http://identifiers.org/clinvar/149559 ^@ GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3 http://identifiers.org/clinvar/149560 ^@ GRCh38/hg38 15q13.3(chr15:31772797-32222779)x1 http://identifiers.org/clinvar/149561 ^@ GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 http://identifiers.org/clinvar/149562 ^@ GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1 http://identifiers.org/clinvar/149563 ^@ GRCh38/hg38 8q23.1(chr8:106784262-107380780)x3 http://identifiers.org/clinvar/149564 ^@ GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1 http://identifiers.org/clinvar/149565 ^@ GRCh38/hg38 4q13.1(chr4:63177590-64345889)x1 http://identifiers.org/clinvar/149566 ^@ GRCh38/hg38 2p16.3(chr2:50751328-51301336)x1 http://identifiers.org/clinvar/149567 ^@ GRCh38/hg38 Xq26.2(chrX:133531315-133536007)x1 http://identifiers.org/clinvar/149568 ^@ GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 http://identifiers.org/clinvar/149569 ^@ GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 http://identifiers.org/clinvar/149570 ^@ GRCh38/hg38 13q21.32(chr13:65970693-66638069)x3 http://identifiers.org/clinvar/149571 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4 http://identifiers.org/clinvar/149572 ^@ GRCh38/hg38 7q31.1(chr7:114680446-114697214)x3 http://identifiers.org/clinvar/149573 ^@ GRCh38/hg38 16p13.3(chr16:6654615-6717300)x1 http://identifiers.org/clinvar/149574 ^@ GRCh38/hg38 15q13.1(chr15:28744504-29349007)x3 http://identifiers.org/clinvar/149576 ^@ GRCh38/hg38 3q29(chr3:196013531-197590232)x1 http://identifiers.org/clinvar/149577 ^@ GRCh38/hg38 1q42.2(chr1:231613920-231678234)x3 http://identifiers.org/clinvar/149578 ^@ GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1 http://identifiers.org/clinvar/149579 ^@ GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3 http://identifiers.org/clinvar/149580 ^@ GRCh38/hg38 Xp21.1(chrX:31870708-32353592)x0 http://identifiers.org/clinvar/149584 ^@ GRCh38/hg38 Xq11.1(chrX:62712230-62928932)x2 http://identifiers.org/clinvar/149585 ^@ GRCh38/hg38 Xq11.1(chrX:62712230-62928932)x3 http://identifiers.org/clinvar/149586 ^@ GRCh38/hg38 Xp22.33(chrX:821293-861317)x0 http://identifiers.org/clinvar/149587 ^@ GRCh38/hg38 7q34(chr7:142578930-142753745)x1 http://identifiers.org/clinvar/149588 ^@ GRCh38/hg38 10q11.22(chr10:46154949-46706745)x3 http://identifiers.org/clinvar/149589 ^@ GRCh38/hg38 10q11.22(chr10:46154949-46706745)x1 http://identifiers.org/clinvar/149590 ^@ GRCh38/hg38 5p15.33(chr5:1890984-2167563)x3 http://identifiers.org/clinvar/149591 ^@ GRCh38/hg38 18p11.32(chr18:1802505-2020922)x3 http://identifiers.org/clinvar/149592 ^@ GRCh38/hg38 4q35.2(chr4:188326449-188624372)x3 http://identifiers.org/clinvar/149593 ^@ GRCh38/hg38 4q28.3(chr4:133286809-133763797)x3 http://identifiers.org/clinvar/149594 ^@ GRCh38/hg38 14q21.2(chr14:45352356-45510411)x1 http://identifiers.org/clinvar/149595 ^@ GRCh38/hg38 2p25.3(chr2:189743-210454)x1 http://identifiers.org/clinvar/149596 ^@ GRCh38/hg38 3p26.1(chr3:5579840-5722336)x1 http://identifiers.org/clinvar/149597 ^@ GRCh38/hg38 6p21.32(chr6:32489152-32571256)x3 http://identifiers.org/clinvar/149598 ^@ GRCh38/hg38 6p25.3(chr6:253107-293782)x3 http://identifiers.org/clinvar/149599 ^@ GRCh37/hg19 13q31.1(chr13:86749088-86926000)x1 http://identifiers.org/clinvar/149600 ^@ GRCh38/hg38 11p14.1(chr11:28400886-28565966)x1 http://identifiers.org/clinvar/149601 ^@ GRCh38/hg38 5p13.3(chr5:30176363-31018187)x3 http://identifiers.org/clinvar/149602 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25309341-25596855)x3 http://identifiers.org/clinvar/149603 ^@ GRCh38/hg38 1q31.3(chr1:195930912-196014078)x1 http://identifiers.org/clinvar/149604 ^@ GRCh38/hg38 Xp22.33(chrX:27601-243860)x3 http://identifiers.org/clinvar/149605 ^@ GRCh38/hg38 13q31.2-31.3(chr13:88756666-89465776)x3 http://identifiers.org/clinvar/149606 ^@ GRCh38/hg38 Xp22.33(chrX:27601-243860)x1 http://identifiers.org/clinvar/149607 ^@ GRCh38/hg38 Xp22.33(chrX:27601-243860)x0 http://identifiers.org/clinvar/149609 ^@ GRCh38/hg38 8q24.22(chr8:130497553-130742576)x3 http://identifiers.org/clinvar/149610 ^@ GRCh38/hg38 3p14.1(chr3:67822085-68916513)x3 http://identifiers.org/clinvar/149611 ^@ GRCh38/hg38 4q13.1(chr4:64305114-64515521)x1 http://identifiers.org/clinvar/149612 ^@ GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3 http://identifiers.org/clinvar/149613 ^@ GRCh38/hg38 14q23.3(chr14:66680039-66884969)x1 http://identifiers.org/clinvar/149616 ^@ GRCh37/hg19 17q12(chr17:34817422-36248918)x1 http://identifiers.org/clinvar/149617 ^@ GRCh38/hg38 21q21.2(chr21:23492687-23664393)x3 http://identifiers.org/clinvar/149618 ^@ GRCh38/hg38 12p11.21(chr12:31128897-31182169)x3 http://identifiers.org/clinvar/149619 ^@ GRCh38/hg38 1p21.1(chr1:103618352-103647508)x3 http://identifiers.org/clinvar/149620 ^@ GRCh38/hg38 11q12.1(chr11:58998716-59079438)x3 http://identifiers.org/clinvar/149621 ^@ GRCh38/hg38 14q32.33(chr14:106375577-106633188)x3 http://identifiers.org/clinvar/149623 ^@ GRCh38/hg38 4q13.2(chr4:69290388-69358840)x1 http://identifiers.org/clinvar/149625 ^@ GRCh38/hg38 2q24.1(chr2:154282149-154674427)x3 http://identifiers.org/clinvar/149626 ^@ GRCh38/hg38 2q24.1-24.2(chr2:158743458-159232182)x3 http://identifiers.org/clinvar/149627 ^@ GRCh38/hg38 3q25.1(chr3:150889603-151142420)x3 http://identifiers.org/clinvar/149628 ^@ GRCh38/hg38 2p22.3(chr2:35596754-35836924)x1 http://identifiers.org/clinvar/149629 ^@ GRCh38/hg38 Xp22.33(chrX:488443-503803)x0 http://identifiers.org/clinvar/149630 ^@ GRCh38/hg38 13q12.12(chr13:23686720-23915028)x1 http://identifiers.org/clinvar/149631 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 http://identifiers.org/clinvar/149632 ^@ GRCh38/hg38 6q25.2(chr6:153395918-153658090)x3 http://identifiers.org/clinvar/149633 ^@ GRCh38/hg38 20p12.3(chr20:7336200-8078349)x3 http://identifiers.org/clinvar/149634 ^@ GRCh38/hg38 22q11.22(chr22:21981865-22202315)x3 http://identifiers.org/clinvar/149635 ^@ GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1 http://identifiers.org/clinvar/149636 ^@ GRCh38/hg38 22q11.22(chr22:21981865-22202315)x1 http://identifiers.org/clinvar/149637 ^@ GRCh38/hg38 2p25.1(chr2:7057652-7321836)x3 http://identifiers.org/clinvar/149638 ^@ GRCh38/hg38 6p25.3(chr6:259911-339797)x1 http://identifiers.org/clinvar/149639 ^@ GRCh38/hg38 6p25.3(chr6:259911-339797)x3 http://identifiers.org/clinvar/149643 ^@ GRCh38/hg38 16p12.1(chr16:26102190-26356644)x3 http://identifiers.org/clinvar/149644 ^@ GRCh38/hg38 17q12(chr17:36500465-37889304)x1 http://identifiers.org/clinvar/149645 ^@ GRCh38/hg38 3q29(chr3:195537024-195730806)x3 http://identifiers.org/clinvar/149646 ^@ GRCh38/hg38 3q29(chr3:195537024-195730806)x1 http://identifiers.org/clinvar/149647 ^@ GRCh38/hg38 2p16.3(chr2:50498526-50830659)x1 http://identifiers.org/clinvar/149648 ^@ GRCh38/hg38 3p12.3(chr3:75422685-75744282)x1 http://identifiers.org/clinvar/149649 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x3 http://identifiers.org/clinvar/149650 ^@ GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 http://identifiers.org/clinvar/149651 ^@ GRCh38/hg38 Xq25(chrX:125998471-126153268)x0 http://identifiers.org/clinvar/149652 ^@ GRCh38/hg38 Xq25(chrX:125998471-126153268)x1 http://identifiers.org/clinvar/149658 ^@ GRCh38/hg38 21q11.2(chr21:14248587-14279423)x3 http://identifiers.org/clinvar/149659 ^@ GRCh38/hg38 12q13.13(chr12:52748391-52950618)x3 http://identifiers.org/clinvar/149660 ^@ GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 http://identifiers.org/clinvar/149661 ^@ GRCh38/hg38 14q23.2(chr14:63153722-64093651)x3 http://identifiers.org/clinvar/149662 ^@ GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 http://identifiers.org/clinvar/149663 ^@ GRCh38/hg38 7q31.2(chr7:115048047-115507629)x1 http://identifiers.org/clinvar/149665 ^@ GRCh38/hg38 8p11.1(chr8:43516300-43528060)x3 http://identifiers.org/clinvar/149666 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3 http://identifiers.org/clinvar/149667 ^@ GRCh38/hg38 8p23.1(chr8:7381949-8364508)x3 http://identifiers.org/clinvar/149668 ^@ GRCh38/hg38 6q16.1(chr6:94897422-94964435)x3 http://identifiers.org/clinvar/149669 ^@ GRCh38/hg38 6q16.1(chr6:94897422-94964435)x1 http://identifiers.org/clinvar/149670 ^@ GRCh38/hg38 Xp11.3(chrX:43714151-43720885)x3 http://identifiers.org/clinvar/149671 ^@ GRCh38/hg38 Xp11.3(chrX:43714151-43720885)x2 http://identifiers.org/clinvar/149672 ^@ GRCh38/hg38 15q14(chr15:34334908-34549221)x3 http://identifiers.org/clinvar/149673 ^@ GRCh38/hg38 15q14(chr15:34334908-34549221)x1 http://identifiers.org/clinvar/149674 ^@ GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 http://identifiers.org/clinvar/149678 ^@ GRCh38/hg38 Xp22.33(chrX:10701-813813)x3 http://identifiers.org/clinvar/149679 ^@ GRCh38/hg38 12q24.32(chr12:127145342-128422497)x4 http://identifiers.org/clinvar/149680 ^@ GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1 http://identifiers.org/clinvar/149681 ^@ GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3 http://identifiers.org/clinvar/149682 ^@ GRCh38/hg38 15q26.3(chr15:98976591-99598500)x3 http://identifiers.org/clinvar/149685 ^@ GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 http://identifiers.org/clinvar/149686 ^@ GRCh38/hg38 7q36.3(chr7:157153628-159335866)x1 http://identifiers.org/clinvar/149687 ^@ GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3 http://identifiers.org/clinvar/149690 ^@ GRCh38/hg38 6q25.3(chr6:156965417-157093452)x1 http://identifiers.org/clinvar/149692 ^@ GRCh38/hg38 8p23.2(chr8:2641113-3321965)x3 http://identifiers.org/clinvar/149693 ^@ GRCh38/hg38 5q21.1-21.2(chr5:102812129-104230720)x3 http://identifiers.org/clinvar/149694 ^@ GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 http://identifiers.org/clinvar/149696 ^@ GRCh38/hg38 Xp22.12(chrX:19970925-20240102)x2 http://identifiers.org/clinvar/149697 ^@ GRCh38/hg38 Xq28(chrX:155348480-156003242)x3 http://identifiers.org/clinvar/149698 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 http://identifiers.org/clinvar/149699 ^@ GRCh38/hg38 16p13.3(chr16:6819368-7066203)x1 http://identifiers.org/clinvar/149700 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 http://identifiers.org/clinvar/149703 ^@ GRCh38/hg38 8p22(chr8:18626254-18884550)x1 http://identifiers.org/clinvar/149704 ^@ GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 http://identifiers.org/clinvar/149705 ^@ GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 http://identifiers.org/clinvar/149706 ^@ GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 http://identifiers.org/clinvar/149707 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 http://identifiers.org/clinvar/149708 ^@ GRCh38/hg38 Xp22.13(chrX:18570473-18651053)x1 http://identifiers.org/clinvar/149709 ^@ GRCh38/hg38 2q23.1(chr2:148177218-148220153)x1 http://identifiers.org/clinvar/149710 ^@ GRCh38/hg38 1q25.1(chr1:175479694-175735787)x3 http://identifiers.org/clinvar/149712 ^@ GRCh38/hg38 22q11.21(chr22:20378147-21151128)x1 http://identifiers.org/clinvar/149713 ^@ GRCh38/hg38 6p21.33(chr6:31996044-32040241)x3 http://identifiers.org/clinvar/149714 ^@ GRCh38/hg38 9p24.3(chr9:579739-753199)x3 http://identifiers.org/clinvar/149716 ^@ GRCh38/hg38 7q34(chr7:142620632-142753000)x1 http://identifiers.org/clinvar/149717 ^@ GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 http://identifiers.org/clinvar/149718 ^@ GRCh38/hg38 13q21.1(chr13:55301696-55424126)x1 http://identifiers.org/clinvar/149719 ^@ GRCh38/hg38 1p36.13(chr1:16019943-16049058)x3 http://identifiers.org/clinvar/149720 ^@ GRCh38/hg38 9p23(chr9:11318956-11530641)x1 http://identifiers.org/clinvar/149721 ^@ GRCh38/hg38 2p16.3(chr2:50654953-50720666)x1 http://identifiers.org/clinvar/149723 ^@ GRCh38/hg38 7q11.23(chr7:76722673-76927755)x3 http://identifiers.org/clinvar/149724 ^@ GRCh38/hg38 10q26.3(chr10:133461400-133620609)x3 http://identifiers.org/clinvar/149725 ^@ GRCh38/hg38 8p11.1(chr8:43625423-43686841)x3 http://identifiers.org/clinvar/149726 ^@ GRCh38/hg38 5p12(chr5:45858674-45880642)x1 http://identifiers.org/clinvar/149727 ^@ GRCh38/hg38 6p25.3(chr6:265806-293497)x3 http://identifiers.org/clinvar/149728 ^@ GRCh38/hg38 15q11.2(chr15:23964184-24259390)x3 http://identifiers.org/clinvar/149729 ^@ GRCh38/hg38 14q11.2(chr14:22130104-22398359)x1 http://identifiers.org/clinvar/149730 ^@ GRCh38/hg38 Xq26.3(chrX:134617810-134911506)x3 http://identifiers.org/clinvar/149731 ^@ GRCh38/hg38 20p12.1(chr20:14775756-14983903)x1 http://identifiers.org/clinvar/149733 ^@ GRCh38/hg38 13q12.11(chr13:19841545-19873832)x3 http://identifiers.org/clinvar/149734 ^@ GRCh38/hg38 3q12.3-13.11(chr3:102667951-103230686)x1 http://identifiers.org/clinvar/149739 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 http://identifiers.org/clinvar/149740 ^@ GRCh38/hg38 7q35(chr7:146529302-146557642)x3 http://identifiers.org/clinvar/149741 ^@ GRCh38/hg38 Xp22.12(chrX:21356600-21624363)x0 http://identifiers.org/clinvar/149742 ^@ GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 http://identifiers.org/clinvar/149744 ^@ GRCh38/hg38 4q35.2(chr4:188228704-189166614)x3 http://identifiers.org/clinvar/149746 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1 http://identifiers.org/clinvar/149747 ^@ GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1 http://identifiers.org/clinvar/149749 ^@ GRCh38/hg38 16p12.2(chr16:21786451-22547506)x3 http://identifiers.org/clinvar/149750 ^@ GRCh38/hg38 20q12(chr20:42551910-42835867)x1 http://identifiers.org/clinvar/149752 ^@ GRCh38/hg38 Yp11.2(chrY:6234800-8705376)x2 http://identifiers.org/clinvar/149753 ^@ GRCh38/hg38 16q24.1(chr16:85026633-85843419)x3 http://identifiers.org/clinvar/149754 ^@ GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3 http://identifiers.org/clinvar/149755 ^@ GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1 http://identifiers.org/clinvar/149756 ^@ GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3 http://identifiers.org/clinvar/149757 ^@ GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1 http://identifiers.org/clinvar/149759 ^@ GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4 http://identifiers.org/clinvar/149760 ^@ GRCh38/hg38 6q27(chr6:170282502-170499171)x1 http://identifiers.org/clinvar/149761 ^@ GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 http://identifiers.org/clinvar/149762 ^@ GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3 http://identifiers.org/clinvar/149763 ^@ GRCh38/hg38 7q11.21(chr7:65039433-65606012)x1 http://identifiers.org/clinvar/149764 ^@ GRCh38/hg38 14q21.1(chr14:37533702-38648187)x1 http://identifiers.org/clinvar/149765 ^@ GRCh38/hg38 13q13.1(chr13:32352101-32823614)x1 http://identifiers.org/clinvar/149766 ^@ GRCh38/hg38 12p13.32(chr12:3404282-3895416)x1 http://identifiers.org/clinvar/149767 ^@ GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3 http://identifiers.org/clinvar/149768 ^@ GRCh38/hg38 10q25.3(chr10:115426223-115612358)x1 http://identifiers.org/clinvar/149769 ^@ GRCh38/hg38 7q11.22(chr7:69477169-69865814)x1 http://identifiers.org/clinvar/149770 ^@ GRCh38/hg38 11q11-12.1(chr11:55316591-55855055)x3 http://identifiers.org/clinvar/149771 ^@ GRCh38/hg38 22q11.21(chr22:18178932-19023018)x3 http://identifiers.org/clinvar/149772 ^@ GRCh38/hg38 10p15.3-15.2(chr10:2678781-3058766)x3 http://identifiers.org/clinvar/149773 ^@ GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3 http://identifiers.org/clinvar/149774 ^@ GRCh38/hg38 Xq28(chrX:153690158-153697468)x2 http://identifiers.org/clinvar/149775 ^@ GRCh38/hg38 1q21.3(chr1:152365299-152618044)x3 http://identifiers.org/clinvar/149776 ^@ GRCh38/hg38 8p23.1(chr8:7381948-7948701)x1 http://identifiers.org/clinvar/149777 ^@ GRCh38/hg38 9p24.3(chr9:204090-348963)x3 http://identifiers.org/clinvar/149778 ^@ GRCh38/hg38 20p12.1(chr20:14719399-15153585)x1 http://identifiers.org/clinvar/149779 ^@ GRCh38/hg38 4p16.2(chr4:4978146-5455904)x1 http://identifiers.org/clinvar/149780 ^@ GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 http://identifiers.org/clinvar/149781 ^@ GRCh38/hg38 16p11.1(chr16:35786379-35804799)x1 http://identifiers.org/clinvar/149782 ^@ GRCh38/hg38 4q13.2(chr4:68508935-68647669)x3 http://identifiers.org/clinvar/149783 ^@ GRCh38/hg38 Yq11.223(chrY:22726860-23257963)x2 http://identifiers.org/clinvar/149784 ^@ GRCh38/hg38 Yq11.223(chrY:22726860-23257963)x0 http://identifiers.org/clinvar/149785 ^@ GRCh38/hg38 17q21.31(chr17:46161863-46661960)x3 http://identifiers.org/clinvar/149786 ^@ GRCh38/hg38 9q21.11(chr9:66876296-66921679)x3 http://identifiers.org/clinvar/149787 ^@ GRCh38/hg38 14q11.2(chr14:19749125-19938168)x3 http://identifiers.org/clinvar/149789 ^@ GRCh38/hg38 15q26.2(chr15:96330112-96332571)x3 http://identifiers.org/clinvar/149790 ^@ GRCh38/hg38 13q32.3(chr13:99984696-99986321)x3 http://identifiers.org/clinvar/149791 ^@ GRCh38/hg38 7q34(chr7:142749675-142753000)x3 http://identifiers.org/clinvar/149792 ^@ GRCh38/hg38 7q34(chr7:142749675-142753000)x1 http://identifiers.org/clinvar/149793 ^@ GRCh38/hg38 7q11.23(chr7:76805806-76994096)x3 http://identifiers.org/clinvar/149794 ^@ GRCh38/hg38 Xq21.32(chrX:92936484-92988624)x0 http://identifiers.org/clinvar/149795 ^@ GRCh38/hg38 4p16.3(chr4:72428-118039)x3 http://identifiers.org/clinvar/149796 ^@ GRCh38/hg38 5p12-11(chr5:45865892-46115071)x3 http://identifiers.org/clinvar/149797 ^@ GRCh38/hg38 Xq25(chrX:126709667-126935493)x3 http://identifiers.org/clinvar/149798 ^@ GRCh38/hg38 Xq13.1(chrX:71810439-72381499)x3 http://identifiers.org/clinvar/149799 ^@ GRCh38/hg38 1q44(chr1:247613235-248521590)x3 http://identifiers.org/clinvar/149800 ^@ GRCh38/hg38 13q31.3(chr13:93383656-93538852)x1 http://identifiers.org/clinvar/149801 ^@ GRCh38/hg38 14q12(chr14:28767072-28768032)x3 http://identifiers.org/clinvar/149802 ^@ GRCh38/hg38 1q23.3(chr1:161532006-161605417)x1 http://identifiers.org/clinvar/149803 ^@ GRCh38/hg38 8p23.1(chr8:7256137-7948701)x1 http://identifiers.org/clinvar/149804 ^@ GRCh38/hg38 8p23.1(chr8:7256137-7948701)x3 http://identifiers.org/clinvar/149805 ^@ GRCh38/hg38 4p16.1(chr4:9323895-9429785)x3 http://identifiers.org/clinvar/149806 ^@ GRCh38/hg38 Xp21.1(chrX:37379656-37619694)x3 http://identifiers.org/clinvar/149807 ^@ GRCh38/hg38 14q12(chr14:27078822-27330803)x1 http://identifiers.org/clinvar/149808 ^@ GRCh38/hg38 7q36.3(chr7:159295913-159307533)x1 http://identifiers.org/clinvar/149809 ^@ GRCh38/hg38 8p23.1(chr8:12095338-12585258)x3 http://identifiers.org/clinvar/149810 ^@ GRCh38/hg38 11q11(chr11:55570224-55683419)x3 http://identifiers.org/clinvar/149811 ^@ GRCh38/hg38 16q23.2(chr16:81153520-81228677)x1 http://identifiers.org/clinvar/149812 ^@ GRCh38/hg38 21q21.1-21.2(chr21:22439343-22851460)x3 http://identifiers.org/clinvar/149813 ^@ GRCh38/hg38 17q21.31(chr17:46297929-46710337)x3 http://identifiers.org/clinvar/149814 ^@ GRCh38/hg38 14q32.33(chr14:106208348-106774412)x3 http://identifiers.org/clinvar/149818 ^@ GRCh38/hg38 2p22.2-22.1(chr2:38105199-38892257)x3 http://identifiers.org/clinvar/149819 ^@ GRCh38/hg38 Xq25(chrX:125868633-126259499)x2 http://identifiers.org/clinvar/149820 ^@ GRCh38/hg38 6q21-22.1(chr6:113997278-116053529)x1 http://identifiers.org/clinvar/149822 ^@ GRCh38/hg38 5q13.2(chr5:70436335-71090767)x3 http://identifiers.org/clinvar/149824 ^@ GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 http://identifiers.org/clinvar/149825 ^@ GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1 http://identifiers.org/clinvar/149827 ^@ GRCh38/hg38 Xp22.33(chrX:1659784-1854368)x0 http://identifiers.org/clinvar/149828 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 http://identifiers.org/clinvar/149829 ^@ GRCh38/hg38 7p22.2(chr7:3383575-3657796)x3 http://identifiers.org/clinvar/149830 ^@ GRCh38/hg38 5p14.3(chr5:19364086-20049756)x1 http://identifiers.org/clinvar/149833 ^@ GRCh38/hg38 1p36.31(chr1:6674118-6916542)x3 http://identifiers.org/clinvar/149834 ^@ GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 http://identifiers.org/clinvar/149835 ^@ GRCh38/hg38 6q12(chr6:67527608-67705723)x1 http://identifiers.org/clinvar/149836 ^@ GRCh38/hg38 Xq21.1(chrX:78111751-78286034)x3 http://identifiers.org/clinvar/149837 ^@ GRCh38/hg38 Xq28(chrX:153688786-153697345)x1 http://identifiers.org/clinvar/149840 ^@ GRCh38/hg38 22q11.21(chr22:20812202-21053392)x3 http://identifiers.org/clinvar/149841 ^@ GRCh38/hg38 7q34(chr7:142749675-142752607)x3 http://identifiers.org/clinvar/149842 ^@ GRCh38/hg38 15q11.2(chr15:25334870-25351819)x3 http://identifiers.org/clinvar/149843 ^@ GRCh38/hg38 8p23.1(chr8:7411303-8273109)x3 http://identifiers.org/clinvar/149844 ^@ GRCh38/hg38 13q33.3(chr13:107540865-107708636)x3 http://identifiers.org/clinvar/149845 ^@ GRCh38/hg38 Xq21.33(chrX:96493947-96895992)x2 http://identifiers.org/clinvar/149846 ^@ GRCh38/hg38 7q34(chr7:142752048-142753076)x1 http://identifiers.org/clinvar/149847 ^@ GRCh38/hg38 9q21.11(chr9:67060361-67217006)x3 http://identifiers.org/clinvar/149849 ^@ GRCh38/hg38 7q21.13(chr7:89268198-89728793)x3 http://identifiers.org/clinvar/149850 ^@ GRCh38/hg38 5p15.33(chr5:71798-105346)x3 http://identifiers.org/clinvar/149851 ^@ GRCh38/hg38 13q14.2(chr13:49476783-49716109)x3 http://identifiers.org/clinvar/149852 ^@ GRCh38/hg38 1q31.1(chr1:189461044-189593154)x1 http://identifiers.org/clinvar/149853 ^@ GRCh38/hg38 22q11.1(chr22:16916743-16974038)x3 http://identifiers.org/clinvar/149854 ^@ GRCh38/hg38 Yp11.2(chrY:4155435-4546861)x2 http://identifiers.org/clinvar/149855 ^@ GRCh38/hg38 5q13.2(chr5:69942862-70187999)x1 http://identifiers.org/clinvar/149856 ^@ GRCh38/hg38 5q13.2(chr5:69528381-69607014)x3 http://identifiers.org/clinvar/149857 ^@ GRCh38/hg38 5q13.2(chr5:70319478-70547889)x3 http://identifiers.org/clinvar/149858 ^@ GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 http://identifiers.org/clinvar/149859 ^@ GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1 http://identifiers.org/clinvar/149860 ^@ GRCh38/hg38 16p13.11(chr16:16493025-16678529)x1 http://identifiers.org/clinvar/149861 ^@ GRCh38/hg38 8p11.1(chr8:43514603-43526369)x3 http://identifiers.org/clinvar/149862 ^@ GRCh38/hg38 13q14.3-21.1(chr13:54579871-54859097)x1 http://identifiers.org/clinvar/149863 ^@ GRCh38/hg38 16p11.2(chr16:28832433-29019750)x3 http://identifiers.org/clinvar/149864 ^@ GRCh38/hg38 16p11.2(chr16:28832433-29019750)x1 http://identifiers.org/clinvar/149865 ^@ GRCh38/hg38 Xq21.31(chrX:90533836-91052143)x2 http://identifiers.org/clinvar/149866 ^@ GRCh38/hg38 17q12(chr17:36357258-38225796)x3 http://identifiers.org/clinvar/149868 ^@ GRCh38/hg38 Xq13.3(chrX:75243922-75431414)x2 http://identifiers.org/clinvar/149870 ^@ GRCh38/hg38 Xq13.3(chrX:75243922-75431414)x3 http://identifiers.org/clinvar/149871 ^@ GRCh38/hg38 Xq13.3(chrX:75243922-75431414)x4 http://identifiers.org/clinvar/149872 ^@ GRCh38/hg38 21q21.1(chr21:22354677-22461169)x1 http://identifiers.org/clinvar/149873 ^@ GRCh38/hg38 7p22.3(chr7:54165-127214)x3 http://identifiers.org/clinvar/149874 ^@ GRCh38/hg38 7q34(chr7:142750885-142830927)x1 http://identifiers.org/clinvar/149875 ^@ GRCh38/hg38 22q13.2(chr22:42903977-43046322)x1 http://identifiers.org/clinvar/149876 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1 http://identifiers.org/clinvar/149877 ^@ GRCh38/hg38 8p23.2(chr8:5869389-6054904)x1 http://identifiers.org/clinvar/149878 ^@ GRCh38/hg38 Xp11.4(chrX:38629338-38688706)x3 http://identifiers.org/clinvar/149879 ^@ GRCh38/hg38 15q26.3(chr15:99850251-99951532)x1 http://identifiers.org/clinvar/149880 ^@ GRCh38/hg38 4q25(chr4:111685587-111741288)x3 http://identifiers.org/clinvar/149881 ^@ GRCh38/hg38 1p21.1(chr1:102191079-102384277)x1 http://identifiers.org/clinvar/149882 ^@ GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 http://identifiers.org/clinvar/149888 ^@ GRCh38/hg38 19q13.31(chr19:42918795-43237562)x1 http://identifiers.org/clinvar/149889 ^@ GRCh38/hg38 7q34(chr7:142728507-142753745)x1 http://identifiers.org/clinvar/149890 ^@ GRCh38/hg38 7q34(chr7:142728507-142753745)x3 http://identifiers.org/clinvar/149891 ^@ GRCh38/hg38 15q11.2(chr15:24186506-24531137)x3 http://identifiers.org/clinvar/149892 ^@ GRCh38/hg38 17q25.3(chr17:82970026-83060396)x3 http://identifiers.org/clinvar/149894 ^@ GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1 http://identifiers.org/clinvar/149895 ^@ GRCh38/hg38 18p11.32(chr18:149089-1754473)x1 http://identifiers.org/clinvar/149896 ^@ GRCh38/hg38 13q34(chr13:114242325-114277643)x3 http://identifiers.org/clinvar/149897 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/149899 ^@ GRCh38/hg38 9q32(chr9:114246889-114637174)x3 http://identifiers.org/clinvar/149900 ^@ GRCh38/hg38 10p11.21(chr10:34827089-34992228)x3 http://identifiers.org/clinvar/149901 ^@ GRCh38/hg38 7q11.21(chr7:63035704-63038254)x1 http://identifiers.org/clinvar/149902 ^@ GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1 http://identifiers.org/clinvar/149903 ^@ GRCh38/hg38 5p14.3(chr5:19125234-19364145)x1 http://identifiers.org/clinvar/149904 ^@ GRCh38/hg38 7p22.3(chr7:54165-725325)x1 http://identifiers.org/clinvar/149905 ^@ GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 http://identifiers.org/clinvar/149906 ^@ GRCh38/hg38 1p31.1(chr1:79824214-80014009)x1 http://identifiers.org/clinvar/149907 ^@ GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3 http://identifiers.org/clinvar/149908 ^@ GRCh38/hg38 2p21(chr2:45273355-45734463)x3 http://identifiers.org/clinvar/149909 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3 http://identifiers.org/clinvar/149910 ^@ GRCh38/hg38 16q22.2(chr16:70873565-71133362)x3 http://identifiers.org/clinvar/149911 ^@ GRCh38/hg38 16q22.2(chr16:70873565-71133362)x1 http://identifiers.org/clinvar/149912 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147156522-148352084)x3 http://identifiers.org/clinvar/149913 ^@ GRCh38/hg38 5p12-11(chr5:45273484-46114984)x3 http://identifiers.org/clinvar/149914 ^@ GRCh38/hg38 15q11.2(chr15:24833260-24869217)x1 http://identifiers.org/clinvar/149915 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 http://identifiers.org/clinvar/149916 ^@ GRCh38/hg38 Xq24(chrX:120526664-120531454)x0 http://identifiers.org/clinvar/149917 ^@ GRCh38/hg38 Xq27.3(chrX:145097263-145504956)x3 http://identifiers.org/clinvar/149918 ^@ GRCh38/hg38 16q22.1-22.2(chr16:70775377-71086235)x1 http://identifiers.org/clinvar/149919 ^@ GRCh38/hg38 19p13.2(chr19:6916104-7103194)x3 http://identifiers.org/clinvar/149922 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738659-43025735)x1 http://identifiers.org/clinvar/149924 ^@ GRCh38/hg38 3q25.32(chr3:158522751-158602792)x3 http://identifiers.org/clinvar/149926 ^@ GRCh38/hg38 1q31.1(chr1:189362081-189543770)x1 http://identifiers.org/clinvar/149927 ^@ GRCh38/hg38 7q35(chr7:144186919-144354186)x3 http://identifiers.org/clinvar/149928 ^@ GRCh38/hg38 7q35(chr7:144186919-144354186)x1 http://identifiers.org/clinvar/149929 ^@ GRCh38/hg38 2p21(chr2:46083824-46395464)x3 http://identifiers.org/clinvar/149930 ^@ GRCh38/hg38 15q14(chr15:34440634-34517652)x1 http://identifiers.org/clinvar/149931 ^@ GRCh38/hg38 17q12(chr17:36199141-36266291)x3 http://identifiers.org/clinvar/149932 ^@ GRCh38/hg38 2q22.3(chr2:144213114-144668146)x1 http://identifiers.org/clinvar/149933 ^@ GRCh38/hg38 Xp11.4(chrX:38632286-38698281)x0 http://identifiers.org/clinvar/149935 ^@ GRCh37/hg19 10q11.23(chr10:51094982-51209124)x3 http://identifiers.org/clinvar/149936 ^@ GRCh38/hg38 17q12(chr17:38019086-38143043)x3 http://identifiers.org/clinvar/149937 ^@ GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0 http://identifiers.org/clinvar/149938 ^@ GRCh38/hg38 15q26.1(chr15:93070246-93607464)x3 http://identifiers.org/clinvar/149939 ^@ GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3 http://identifiers.org/clinvar/149942 ^@ GRCh38/hg38 7q11.22(chr7:70724914-70755760)x1 http://identifiers.org/clinvar/149943 ^@ GRCh38/hg38 11p14.2-14.1(chr11:26555328-27307056)x1 http://identifiers.org/clinvar/149944 ^@ GRCh38/hg38 4q25(chr4:112564382-112823236)x3 http://identifiers.org/clinvar/149947 ^@ GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1 http://identifiers.org/clinvar/149950 ^@ GRCh38/hg38 3q23(chr3:139468925-140102684)x3 http://identifiers.org/clinvar/149955 ^@ GRCh38/hg38 1q22(chr1:155834419-156434205)x3 http://identifiers.org/clinvar/149956 ^@ GRCh38/hg38 7q11.23(chr7:73755813-74133404)x3 http://identifiers.org/clinvar/149958 ^@ GRCh38/hg38 20p12.1(chr20:13441077-14062969)x4 http://identifiers.org/clinvar/149959 ^@ GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 http://identifiers.org/clinvar/149960 ^@ GRCh38/hg38 1p36.21(chr1:13400935-15356944)x1 http://identifiers.org/clinvar/149961 ^@ GRCh38/hg38 14q23.3(chr14:66612131-66884969)x1 http://identifiers.org/clinvar/149963 ^@ GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 http://identifiers.org/clinvar/149964 ^@ GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4 http://identifiers.org/clinvar/149965 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 http://identifiers.org/clinvar/149966 ^@ GRCh38/hg38 6p21.31(chr6:33836334-34176285)x1 http://identifiers.org/clinvar/149967 ^@ GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1 http://identifiers.org/clinvar/149968 ^@ GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 http://identifiers.org/clinvar/149969 ^@ GRCh38/hg38 Xp22.31(chrX:7059443-7917114)x1 http://identifiers.org/clinvar/149970 ^@ GRCh38/hg38 10q11.23(chr10:49971505-50699223)x1 http://identifiers.org/clinvar/149971 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 http://identifiers.org/clinvar/149972 ^@ GRCh38/hg38 3q29(chr3:196812829-197938552)x3 http://identifiers.org/clinvar/149973 ^@ GRCh38/hg38 16p13.3(chr16:165500-183438)x1 http://identifiers.org/clinvar/149974 ^@ GRCh38/hg38 Xq21.1(chrX:80121900-80975430)x2 http://identifiers.org/clinvar/149975 ^@ GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 http://identifiers.org/clinvar/149976 ^@ GRCh38/hg38 7q11.22(chr7:71735021-72243063)x3 http://identifiers.org/clinvar/149977 ^@ GRCh38/hg38 7q36.1(chr7:152056713-152636746)x3 http://identifiers.org/clinvar/149978 ^@ GRCh38/hg38 2p16.3(chr2:50591217-50931162)x1 http://identifiers.org/clinvar/149979 ^@ GRCh38/hg38 12p13.33(chr12:431903-1521472)x3 http://identifiers.org/clinvar/149980 ^@ GRCh38/hg38 Xq21.31(chrX:88596063-88882623)x1 http://identifiers.org/clinvar/149981 ^@ GRCh38/hg38 7q36.3(chr7:159320013-159335865)x3 http://identifiers.org/clinvar/149982 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/149983 ^@ GRCh37/hg19 1q21.2(chr1:149041023-149768869)x1 http://identifiers.org/clinvar/149984 ^@ GRCh38/hg38 13q34(chr13:114245917-114293574)x3 http://identifiers.org/clinvar/149985 ^@ GRCh38/hg38 7q34(chr7:142750432-142752607)x3 http://identifiers.org/clinvar/149986 ^@ GRCh38/hg38 7q34(chr7:142750432-142752607)x1 http://identifiers.org/clinvar/149987 ^@ GRCh38/hg38 17q21.31(chr17:46061149-46661960)x1 http://identifiers.org/clinvar/149988 ^@ GRCh38/hg38 8p23.1(chr8:7381949-8273109)x3 http://identifiers.org/clinvar/149989 ^@ GRCh38/hg38 1p34.1(chr1:45783014-46028246)x3 http://identifiers.org/clinvar/149997 ^@ GRCh38/hg38 16q24.3(chr16:90020443-90039019)x1 http://identifiers.org/clinvar/149998 ^@ GRCh38/hg38 14q32.33(chr14:106614593-106653068)x1 http://identifiers.org/clinvar/149999 ^@ GRCh38/hg38 Xq27.2(chrX:141258990-141469407)x2 http://identifiers.org/clinvar/150000 ^@ GRCh38/hg38 Xq27.2(chrX:141258990-141469407)x3 http://identifiers.org/clinvar/150001 ^@ GRCh38/hg38 Xq27.2(chrX:141258990-141469407)x1 http://identifiers.org/clinvar/150002 ^@ GRCh38/hg38 Xq27.2(chrX:141258990-141469407)x0 http://identifiers.org/clinvar/150003 ^@ GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3 http://identifiers.org/clinvar/150004 ^@ GRCh38/hg38 16p13.3(chr16:6610794-6635820)x3 http://identifiers.org/clinvar/150005 ^@ GRCh38/hg38 15q15.3(chr15:43624777-43657366)x3 http://identifiers.org/clinvar/150006 ^@ GRCh38/hg38 1q21.1(chr1:143546356-143737826)x1 http://identifiers.org/clinvar/150007 ^@ GRCh38/hg38 15q15.3(chr15:43624777-43657366)x1 http://identifiers.org/clinvar/150008 ^@ GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1 http://identifiers.org/clinvar/150010 ^@ GRCh38/hg38 5q13.2(chr5:70076623-71090767)x3 http://identifiers.org/clinvar/150012 ^@ GRCh38/hg38 3p26.3(chr3:199392-241339)x1 http://identifiers.org/clinvar/150013 ^@ GRCh38/hg38 2p11.2(chr2:87068547-87705910)x1 http://identifiers.org/clinvar/150014 ^@ GRCh38/hg38 Xp22.31(chrX:7916991-8129470)x2 http://identifiers.org/clinvar/150015 ^@ GRCh38/hg38 13q31.2(chr13:87204551-87455470)x1 http://identifiers.org/clinvar/150016 ^@ GRCh38/hg38 12q24.32-24.33(chr12:128510404-129187569)x4 http://identifiers.org/clinvar/150017 ^@ GRCh38/hg38 16p13.3(chr16:6976343-7082652)x1 http://identifiers.org/clinvar/150018 ^@ GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1 http://identifiers.org/clinvar/150019 ^@ GRCh38/hg38 15q13.3(chr15:31716361-32384654)x3 http://identifiers.org/clinvar/150020 ^@ GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3 http://identifiers.org/clinvar/150021 ^@ GRCh38/hg38 9p24.2(chr9:3308176-4296711)x3 http://identifiers.org/clinvar/150025 ^@ GRCh38/hg38 4q35.2(chr4:189047095-190095391)x3 http://identifiers.org/clinvar/150026 ^@ GRCh38/hg38 11p11.2(chr11:44214049-44234152)x3 http://identifiers.org/clinvar/150028 ^@ GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 http://identifiers.org/clinvar/150029 ^@ GRCh38/hg38 2p16.2(chr2:53520387-53728862)x1 http://identifiers.org/clinvar/150030 ^@ GRCh38/hg38 2p16.3(chr2:50555992-50579912)x1 http://identifiers.org/clinvar/150031 ^@ GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 http://identifiers.org/clinvar/150034 ^@ GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1 http://identifiers.org/clinvar/150035 ^@ GRCh38/hg38 5q22.3(chr5:115320895-115754204)x1 http://identifiers.org/clinvar/150036 ^@ GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4 http://identifiers.org/clinvar/150040 ^@ GRCh38/hg38 Xp22.33(chrX:1718254-3700497)x0 http://identifiers.org/clinvar/150041 ^@ GRCh38/hg38 4q35.2(chr4:188228704-188587276)x1 http://identifiers.org/clinvar/150043 ^@ GRCh38/hg38 7q11.22-11.23(chr7:71148562-72895414)x1 http://identifiers.org/clinvar/150044 ^@ GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 http://identifiers.org/clinvar/150045 ^@ GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1 http://identifiers.org/clinvar/150046 ^@ GRCh38/hg38 13q22.3-31.3(chr13:78304802-91283940)x1 http://identifiers.org/clinvar/150047 ^@ GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1 http://identifiers.org/clinvar/150048 ^@ GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 http://identifiers.org/clinvar/150049 ^@ GRCh38/hg38 20p13(chr20:80106-702368)x3 http://identifiers.org/clinvar/150050 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 http://identifiers.org/clinvar/150051 ^@ GRCh38/hg38 1q44(chr1:247682929-248622297)x3 http://identifiers.org/clinvar/150055 ^@ GRCh38/hg38 Xq22.2(chrX:103404405-103913265)x2 http://identifiers.org/clinvar/150056 ^@ GRCh38/hg38 6q21(chr6:113197287-113583103)x1 http://identifiers.org/clinvar/150057 ^@ GRCh38/hg38 20p12.1(chr20:12775958-13349293)x3 http://identifiers.org/clinvar/150058 ^@ GRCh38/hg38 16p13.3(chr16:6338660-6374221)x1 http://identifiers.org/clinvar/150059 ^@ GRCh38/hg38 15q26.3(chr15:101608448-101716531)x3 http://identifiers.org/clinvar/150060 ^@ GRCh38/hg38 3p22.1(chr3:41768820-41967280)x1 http://identifiers.org/clinvar/150061 ^@ GRCh38/hg38 2p22.1(chr2:39852759-40111879)x1 http://identifiers.org/clinvar/150062 ^@ GRCh38/hg38 1p21.1(chr1:103621173-103668450)x3 http://identifiers.org/clinvar/150063 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25299501-25571001)x3 http://identifiers.org/clinvar/150064 ^@ GRCh38/hg38 22q11.23-12.1(chr22:25299501-25571001)x1 http://identifiers.org/clinvar/150065 ^@ GRCh38/hg38 17q12(chr17:38051428-38225778)x3 http://identifiers.org/clinvar/150066 ^@ GRCh38/hg38 4q13.2(chr4:68471568-68617567)x3 http://identifiers.org/clinvar/150067 ^@ GRCh38/hg38 3p25.2(chr3:12591863-12751749)x3 http://identifiers.org/clinvar/150068 ^@ GRCh38/hg38 2p21(chr2:44291298-44315779)x3 http://identifiers.org/clinvar/150069 ^@ GRCh38/hg38 21q21.3(chr21:27390136-27532776)x1 http://identifiers.org/clinvar/150070 ^@ GRCh38/hg38 5p13.1(chr5:38542122-38760928)x3 http://identifiers.org/clinvar/150071 ^@ GRCh38/hg38 Xp21.1(chrX:33247944-33273382)x1 http://identifiers.org/clinvar/150072 ^@ GRCh38/hg38 12q21.31(chr12:84195747-84421288)x1 http://identifiers.org/clinvar/150073 ^@ GRCh38/hg38 9p24.3(chr9:204090-291379)x3 http://identifiers.org/clinvar/150074 ^@ GRCh38/hg38 7p22.3(chr7:54165-214573)x1 http://identifiers.org/clinvar/150075 ^@ GRCh38/hg38 11q11(chr11:55522385-55728510)x3 http://identifiers.org/clinvar/150076 ^@ GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1 http://identifiers.org/clinvar/150077 ^@ GRCh38/hg38 3q28(chr3:190590661-191083933)x1 http://identifiers.org/clinvar/150078 ^@ GRCh38/hg38 5p15.32(chr5:4580429-4768709)x3 http://identifiers.org/clinvar/150079 ^@ GRCh38/hg38 Xq21.1-21.31(chrX:85396423-87061496)x3 http://identifiers.org/clinvar/150080 ^@ GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3 http://identifiers.org/clinvar/150081 ^@ GRCh38/hg38 8p23.1(chr8:7022765-8222390)x3 http://identifiers.org/clinvar/150082 ^@ GRCh38/hg38 8p23.1(chr8:7022765-8222390)x1 http://identifiers.org/clinvar/150083 ^@ GRCh38/hg38 3q29(chr3:197990588-198110198)x3 http://identifiers.org/clinvar/150084 ^@ GRCh38/hg38 Xq28(chrX:153690384-153697468)x2 http://identifiers.org/clinvar/150085 ^@ GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3 http://identifiers.org/clinvar/150086 ^@ GRCh38/hg38 Xp22.31(chrX:6534640-6535067)x3 http://identifiers.org/clinvar/150089 ^@ GRCh38/hg38 11q25(chr11:132998476-133374654)x3 http://identifiers.org/clinvar/150090 ^@ GRCh38/hg38 3p11.1(chr3:88034430-88834975)x3 http://identifiers.org/clinvar/150091 ^@ GRCh38/hg38 1p22.2(chr1:87928318-88559905)x1 http://identifiers.org/clinvar/150092 ^@ GRCh38/hg38 13q32.3-33.2(chr13:101095590-105074548)x1 http://identifiers.org/clinvar/150093 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 http://identifiers.org/clinvar/150094 ^@ GRCh38/hg38 7p21.1(chr7:16925050-17334072)x3 http://identifiers.org/clinvar/150095 ^@ GRCh38/hg38 7q11.23(chr7:76584731-76927755)x3 http://identifiers.org/clinvar/150096 ^@ GRCh38/hg38 17q12(chr17:33671097-34595982)x3 http://identifiers.org/clinvar/150099 ^@ GRCh38/hg38 7q36.3(chr7:159214229-159335865)x3 http://identifiers.org/clinvar/150100 ^@ GRCh38/hg38 7q36.3(chr7:159135478-159233950)x3 http://identifiers.org/clinvar/150103 ^@ GRCh38/hg38 13q21.31(chr13:63872626-64339388)x1 http://identifiers.org/clinvar/150104 ^@ GRCh38/hg38 9p24.3(chr9:260370-416321)x3 http://identifiers.org/clinvar/150105 ^@ GRCh38/hg38 12p11.23-11.22(chr12:27153387-27607219)x1 http://identifiers.org/clinvar/150107 ^@ GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3 http://identifiers.org/clinvar/150108 ^@ GRCh38/hg38 7q34(chr7:142750220-142753745)x1 http://identifiers.org/clinvar/150109 ^@ GRCh38/hg38 Xq21.32(chrX:93729967-93979498)x2 http://identifiers.org/clinvar/150112 ^@ GRCh38/hg38 4p16.3(chr4:36424-475382)x1 http://identifiers.org/clinvar/150113 ^@ GRCh38/hg38 3q26.1(chr3:167618839-167688627)x1 http://identifiers.org/clinvar/150118 ^@ GRCh38/hg38 3p24.1(chr3:28426784-29104789)x3 http://identifiers.org/clinvar/150121 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 http://identifiers.org/clinvar/150122 ^@ GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 http://identifiers.org/clinvar/150124 ^@ GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3 http://identifiers.org/clinvar/150125 ^@ GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 http://identifiers.org/clinvar/150126 ^@ GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1 http://identifiers.org/clinvar/150127 ^@ GRCh38/hg38 18p11.22(chr18:9026805-9592203)x3 http://identifiers.org/clinvar/150128 ^@ GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3 http://identifiers.org/clinvar/150129 ^@ GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1 http://identifiers.org/clinvar/150130 ^@ GRCh38/hg38 6q11.1(chr6:61468685-62217280)x3 http://identifiers.org/clinvar/150131 ^@ GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 http://identifiers.org/clinvar/150132 ^@ GRCh38/hg38 10q11.21(chr10:43126703-43372908)x3 http://identifiers.org/clinvar/150133 ^@ GRCh38/hg38 Xq23(chrX:112920714-116408703)x0 http://identifiers.org/clinvar/150134 ^@ GRCh38/hg38 Xp22.33(chrX:1609575-2465371)x3 http://identifiers.org/clinvar/150135 ^@ GRCh38/hg38 Yq11.221(chrY:15004946-15518591)x2 http://identifiers.org/clinvar/150136 ^@ GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3 http://identifiers.org/clinvar/150138 ^@ GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 http://identifiers.org/clinvar/150140 ^@ GRCh38/hg38 5p14.3(chr5:20893286-21454847)x1 http://identifiers.org/clinvar/150141 ^@ GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 http://identifiers.org/clinvar/150142 ^@ GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3 http://identifiers.org/clinvar/150143 ^@ GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4 http://identifiers.org/clinvar/150144 ^@ GRCh38/hg38 8q11.21(chr8:49915078-50482580)x3 http://identifiers.org/clinvar/150145 ^@ GRCh38/hg38 Xq12(chrX:66049830-66301774)x1 http://identifiers.org/clinvar/150146 ^@ GRCh38/hg38 9p24.1(chr9:6055497-6322471)x1 http://identifiers.org/clinvar/150147 ^@ GRCh38/hg38 5q15(chr5:94902711-95930059)x3 http://identifiers.org/clinvar/150148 ^@ GRCh38/hg38 4q35.2(chr4:188115081-188915538)x3 http://identifiers.org/clinvar/150149 ^@ GRCh38/hg38 7p22.1(chr7:5089286-5331174)x1 http://identifiers.org/clinvar/150151 ^@ GRCh38/hg38 13q12.13(chr13:25674583-25785722)x1 http://identifiers.org/clinvar/150152 ^@ GRCh38/hg38 19p12(chr19:23665911-24195691)x3 http://identifiers.org/clinvar/150153 ^@ GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 http://identifiers.org/clinvar/150154 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2312470-2907234)x3 http://identifiers.org/clinvar/150155 ^@ GRCh38/hg38 1p36.13(chr1:17722922-18332415)x3 http://identifiers.org/clinvar/150156 ^@ GRCh38/hg38 14q21.1-21.2(chr14:40490718-43709934)x3 http://identifiers.org/clinvar/150157 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 http://identifiers.org/clinvar/150158 ^@ GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 http://identifiers.org/clinvar/150162 ^@ GRCh38/hg38 1p36.13(chr1:16600450-16761944)x3 http://identifiers.org/clinvar/150163 ^@ GRCh38/hg38 7q22.1(chr7:102514724-102692431)x3 http://identifiers.org/clinvar/150165 ^@ GRCh38/hg38 5p15.33(chr5:759014-821948)x3 http://identifiers.org/clinvar/150166 ^@ GRCh38/hg38 21q21.2(chr21:22792859-22937773)x1 http://identifiers.org/clinvar/150167 ^@ GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3 http://identifiers.org/clinvar/150168 ^@ GRCh38/hg38 11q21(chr11:96914466-97010148)x1 http://identifiers.org/clinvar/150169 ^@ GRCh38/hg38 19p13.2(chr19:6952998-7090780)x3 http://identifiers.org/clinvar/150170 ^@ GRCh38/hg38 18p11.21(chr18:14418523-15165373)x3 http://identifiers.org/clinvar/150171 ^@ GRCh38/hg38 17q12(chr17:36180741-36266291)x3 http://identifiers.org/clinvar/150172 ^@ GRCh38/hg38 5q13.2(chr5:69568368-71317498)x1 http://identifiers.org/clinvar/150173 ^@ GRCh38/hg38 4q21.23(chr4:84044151-84224504)x3 http://identifiers.org/clinvar/150174 ^@ GRCh38/hg38 16q21(chr16:59377897-59716920)x3 http://identifiers.org/clinvar/150175 ^@ GRCh38/hg38 15q26.3(chr15:101875269-101962415)x3 http://identifiers.org/clinvar/150176 ^@ GRCh38/hg38 Xp11.23(chrX:49316774-49611138)x2 http://identifiers.org/clinvar/150177 ^@ GRCh38/hg38 7p21.3(chr7:11055430-11162069)x3 http://identifiers.org/clinvar/150178 ^@ GRCh38/hg38 15q13.1(chr15:28314232-28459561)x3 http://identifiers.org/clinvar/150179 ^@ GRCh38/hg38 11p15.5(chr11:268813-292641)x1 http://identifiers.org/clinvar/150180 ^@ GRCh38/hg38 4q35.2(chr4:188326449-188915525)x3 http://identifiers.org/clinvar/150181 ^@ GRCh38/hg38 8p22(chr8:18930349-19081676)x3 http://identifiers.org/clinvar/150182 ^@ GRCh38/hg38 7q34(chr7:142750220-142830927)x1 http://identifiers.org/clinvar/150183 ^@ GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1 http://identifiers.org/clinvar/150184 ^@ GRCh38/hg38 5p12-11(chr5:45855072-46115071)x3 http://identifiers.org/clinvar/150185 ^@ GRCh38/hg38 14q32.33(chr14:105786368-106879501)x1 http://identifiers.org/clinvar/150187 ^@ GRCh38/hg38 15q26.3(chr15:101457852-101603946)x3 http://identifiers.org/clinvar/150188 ^@ GRCh38/hg38 16p13.3(chr16:6470239-6489245)x1 http://identifiers.org/clinvar/150189 ^@ GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 http://identifiers.org/clinvar/150190 ^@ GRCh38/hg38 6p22.1(chr6:28954920-29358310)x3 http://identifiers.org/clinvar/150191 ^@ GRCh38/hg38 17p11.2(chr17:20268155-20935953)x1 http://identifiers.org/clinvar/150192 ^@ GRCh38/hg38 5q11.1(chr5:50288479-50535389)x3 http://identifiers.org/clinvar/150193 ^@ GRCh38/hg38 2q32.1(chr2:185491636-185669425)x1 http://identifiers.org/clinvar/150194 ^@ GRCh38/hg38 20q13.32(chr20:58889496-58890544)x1 http://identifiers.org/clinvar/150195 ^@ GRCh38/hg38 Yq11.221(chrY:12965897-13095191)x2 http://identifiers.org/clinvar/150196 ^@ GRCh38/hg38 16p11.2(chr16:28850245-29019750)x3 http://identifiers.org/clinvar/150197 ^@ GRCh38/hg38 Yq11.221(chrY:12431421-12643035)x2 http://identifiers.org/clinvar/150198 ^@ GRCh38/hg38 16p13.3(chr16:6922284-6954362)x1 http://identifiers.org/clinvar/150199 ^@ GRCh38/hg38 4p16.2(chr4:4863492-4864627)x1 http://identifiers.org/clinvar/150200 ^@ GRCh38/hg38 16p13.3(chr16:6870983-6901129)x1 http://identifiers.org/clinvar/150201 ^@ GRCh38/hg38 13q12.12(chr13:24253545-24534736)x3 http://identifiers.org/clinvar/150202 ^@ GRCh38/hg38 8p21.3(chr8:20485448-20674194)x3 http://identifiers.org/clinvar/150203 ^@ GRCh38/hg38 17p11.2(chr17:19088044-19185457)x3 http://identifiers.org/clinvar/150204 ^@ GRCh38/hg38 Xp22.12(chrX:21079947-21304378)x0 http://identifiers.org/clinvar/150205 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/150206 ^@ GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3 http://identifiers.org/clinvar/150208 ^@ GRCh38/hg38 5p15.33(chr5:710402-821948)x3 http://identifiers.org/clinvar/150209 ^@ GRCh38/hg38 22q11.21(chr22:18178932-18843315)x3 http://identifiers.org/clinvar/150210 ^@ GRCh37/hg19 17q12(chr17:34431767-34611396)x3 http://identifiers.org/clinvar/150211 ^@ GRCh37/hg19 9p13.1(chr9:40323948-40612938)x3 http://identifiers.org/clinvar/150212 ^@ GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 http://identifiers.org/clinvar/150213 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 http://identifiers.org/clinvar/150215 ^@ GRCh37/hg19 22q11.21(chr22:20345871-20708940)x3 http://identifiers.org/clinvar/150216 ^@ GRCh38/hg38 8p23.3-23.2(chr8:2475295-3055688)x3 http://identifiers.org/clinvar/150217 ^@ GRCh38/hg38 16p13.3(chr16:3657043-3666082)x1 http://identifiers.org/clinvar/150218 ^@ GRCh38/hg38 7q21.11(chr7:82031869-82831385)x1 http://identifiers.org/clinvar/150219 ^@ GRCh38/hg38 15q11.2(chr15:25087994-25088727)x3 http://identifiers.org/clinvar/150220 ^@ GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3 http://identifiers.org/clinvar/150221 ^@ GRCh38/hg38 15q11.2(chr15:25087994-25088727)x1 http://identifiers.org/clinvar/150222 ^@ GRCh38/hg38 8q24.3(chr8:144992787-145054781)x1 http://identifiers.org/clinvar/150223 ^@ GRCh38/hg38 22q13.33(chr22:49315558-49450259)x3 http://identifiers.org/clinvar/150224 ^@ GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1 http://identifiers.org/clinvar/150225 ^@ GRCh38/hg38 11q14.1(chr11:80281651-82521009)x1 http://identifiers.org/clinvar/150226 ^@ GRCh38/hg38 1q44(chr1:244960522-245502219)x3 http://identifiers.org/clinvar/150228 ^@ GRCh38/hg38 13q21.1(chr13:54954509-55404908)x1 http://identifiers.org/clinvar/150230 ^@ GRCh38/hg38 16p12.3(chr16:17228304-17601077)x1 http://identifiers.org/clinvar/150231 ^@ GRCh38/hg38 2q21.2(chr2:131961752-132598286)x3 http://identifiers.org/clinvar/150232 ^@ GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1 http://identifiers.org/clinvar/150233 ^@ GRCh38/hg38 Xq26.1(chrX:129569469-129570537)x0 http://identifiers.org/clinvar/150234 ^@ GRCh38/hg38 13q12.11(chr13:20179998-20605371)x1 http://identifiers.org/clinvar/150235 ^@ GRCh38/hg38 1q24.1(chr1:166031546-166979276)x1 http://identifiers.org/clinvar/150236 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3 http://identifiers.org/clinvar/150238 ^@ GRCh38/hg38 2q12.3(chr2:107924122-108472871)x3 http://identifiers.org/clinvar/150239 ^@ GRCh38/hg38 8q23.1(chr8:106801494-107326594)x3 http://identifiers.org/clinvar/150240 ^@ GRCh38/hg38 15q11.2(chr15:22781888-23066575)x1 http://identifiers.org/clinvar/150241 ^@ GRCh38/hg38 2p12(chr2:78202871-79113257)x3 http://identifiers.org/clinvar/150242 ^@ GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 http://identifiers.org/clinvar/150244 ^@ GRCh38/hg38 2q22.2-22.3(chr2:143294079-147713830)x1 http://identifiers.org/clinvar/150245 ^@ GRCh38/hg38 6q27(chr6:170014772-170714507)x1 http://identifiers.org/clinvar/150246 ^@ GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3 http://identifiers.org/clinvar/150247 ^@ GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1 http://identifiers.org/clinvar/150248 ^@ GRCh38/hg38 1p31.1(chr1:71311709-71580705)x1 http://identifiers.org/clinvar/150249 ^@ GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1 http://identifiers.org/clinvar/150250 ^@ GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 http://identifiers.org/clinvar/150251 ^@ GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 http://identifiers.org/clinvar/150252 ^@ GRCh38/hg38 15q23(chr15:67933759-68766493)x3 http://identifiers.org/clinvar/150253 ^@ GRCh38/hg38 Xq27.3(chrX:143473228-143596610)x0 http://identifiers.org/clinvar/150254 ^@ GRCh38/hg38 5p15.33(chr5:1246589-1257341)x3 http://identifiers.org/clinvar/150255 ^@ GRCh38/hg38 4q28.1(chr4:123215841-125460263)x1 http://identifiers.org/clinvar/150256 ^@ GRCh38/hg38 7q31.1(chr7:111350867-111554599)x1 http://identifiers.org/clinvar/150257 ^@ GRCh38/hg38 12p12.2-12.1(chr12:20864739-21203634)x1 http://identifiers.org/clinvar/150258 ^@ GRCh38/hg38 16p13.3(chr16:3654628-3666082)x1 http://identifiers.org/clinvar/150259 ^@ GRCh38/hg38 10q26.3(chr10:133540771-133620609)x3 http://identifiers.org/clinvar/150260 ^@ GRCh38/hg38 1q21.2(chr1:147756263-147836927)x3 http://identifiers.org/clinvar/150262 ^@ GRCh38/hg38 8p22(chr8:15814811-16351065)x3 http://identifiers.org/clinvar/150263 ^@ GRCh38/hg38 4q34.3(chr4:178173652-178345562)x1 http://identifiers.org/clinvar/150264 ^@ GRCh38/hg38 2q14.3(chr2:122336838-122807304)x3 http://identifiers.org/clinvar/150265 ^@ GRCh38/hg38 17q21.31(chr17:46130519-46380808)x3 http://identifiers.org/clinvar/150266 ^@ GRCh38/hg38 17q21.31(chr17:46130519-46380808)x1 http://identifiers.org/clinvar/150267 ^@ GRCh38/hg38 7q36.3(chr7:159274404-159283714)x1 http://identifiers.org/clinvar/150268 ^@ GRCh38/hg38 Xp22.33(chrX:563704-698632)x3 http://identifiers.org/clinvar/150269 ^@ GRCh38/hg38 11p13(chr11:31804176-31817620)x1 http://identifiers.org/clinvar/150270 ^@ GRCh38/hg38 13q31.3(chr13:92270151-92288777)x1 http://identifiers.org/clinvar/150271 ^@ GRCh38/hg38 9p24.3(chr9:459131-862833)x3 http://identifiers.org/clinvar/150272 ^@ GRCh38/hg38 11p15.4(chr11:7187414-7707594)x3 http://identifiers.org/clinvar/150273 ^@ GRCh38/hg38 11p15.4(chr11:9166889-9494694)x3 http://identifiers.org/clinvar/150274 ^@ GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1 http://identifiers.org/clinvar/150275 ^@ GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 http://identifiers.org/clinvar/150276 ^@ GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1 http://identifiers.org/clinvar/150277 ^@ GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 http://identifiers.org/clinvar/150278 ^@ GRCh38/hg38 Xp22.31(chrX:6535008-8129470)x3 http://identifiers.org/clinvar/150279 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 http://identifiers.org/clinvar/150280 ^@ GRCh38/hg38 3q11.1-11.2(chr3:93856445-94039745)x3 http://identifiers.org/clinvar/150281 ^@ GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1 http://identifiers.org/clinvar/150282 ^@ GRCh38/hg38 Xq27.2(chrX:141258990-141650260)x3 http://identifiers.org/clinvar/150284 ^@ GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 http://identifiers.org/clinvar/150285 ^@ GRCh38/hg38 18q12.1(chr18:31318837-31586401)x3 http://identifiers.org/clinvar/150286 ^@ GRCh38/hg38 7q11.23(chr7:76722673-76994096)x3 http://identifiers.org/clinvar/150287 ^@ GRCh38/hg38 18q12.1(chr18:29104723-29537878)x3 http://identifiers.org/clinvar/150288 ^@ GRCh38/hg38 Xp22.33(chrX:1659784-1912561)x3 http://identifiers.org/clinvar/150289 ^@ GRCh38/hg38 8q11.1-11.21(chr8:47071019-47276395)x3 http://identifiers.org/clinvar/150290 ^@ GRCh38/hg38 8q11.1(chr8:46031340-46951715)x3 http://identifiers.org/clinvar/150291 ^@ GRCh38/hg38 19q13.43(chr19:57712726-57952004)x3 http://identifiers.org/clinvar/150292 ^@ GRCh38/hg38 6p25.1(chr6:4269480-4437686)x1 http://identifiers.org/clinvar/150293 ^@ GRCh38/hg38 2p25.3(chr2:24400-817581)x3 http://identifiers.org/clinvar/150294 ^@ GRCh38/hg38 5p15.33(chr5:75176-176291)x3 http://identifiers.org/clinvar/150295 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3 http://identifiers.org/clinvar/150297 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1 http://identifiers.org/clinvar/150305 ^@ GRCh38/hg38 16q12.1(chr16:47193875-47612192)x1 http://identifiers.org/clinvar/150307 ^@ GRCh38/hg38 7q34(chr7:142503036-142753076)x1 http://identifiers.org/clinvar/150308 ^@ GRCh38/hg38 19q13.31(chr19:43025676-43237562)x1 http://identifiers.org/clinvar/150309 ^@ GRCh38/hg38 8p22(chr8:13544248-14757736)x3 http://identifiers.org/clinvar/150317 ^@ GRCh38/hg38 6p25.3-25.2(chr6:1490637-2677489)x3 http://identifiers.org/clinvar/150319 ^@ GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 http://identifiers.org/clinvar/150321 ^@ GRCh38/hg38 17p13.2(chr17:5695008-6341442)x1 http://identifiers.org/clinvar/150322 ^@ GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1 http://identifiers.org/clinvar/150323 ^@ GRCh38/hg38 2q35(chr2:215908412-216680325)x3 http://identifiers.org/clinvar/150324 ^@ GRCh38/hg38 10p15.3(chr10:70478-1042794)x1 http://identifiers.org/clinvar/150325 ^@ GRCh38/hg38 2q31.1(chr2:174343200-174549848)x1 http://identifiers.org/clinvar/150327 ^@ GRCh38/hg38 3p12.3(chr3:74894248-75491010)x3 http://identifiers.org/clinvar/150328 ^@ GRCh38/hg38 16p13.11(chr16:15345033-16268850)x3 http://identifiers.org/clinvar/150329 ^@ GRCh38/hg38 12p13.33(chr12:2688223-2726383)x3 http://identifiers.org/clinvar/150330 ^@ GRCh38/hg38 12p13.33(chr12:2688223-2726383)x1 http://identifiers.org/clinvar/150331 ^@ GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4 http://identifiers.org/clinvar/150332 ^@ GRCh38/hg38 3q28(chr3:192341889-192548760)x1 http://identifiers.org/clinvar/150333 ^@ GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1 http://identifiers.org/clinvar/150335 ^@ GRCh38/hg38 15q11.2(chr15:24818426-25001476)x3 http://identifiers.org/clinvar/150336 ^@ GRCh38/hg38 14q11.2(chr14:22021665-22428036)x3 http://identifiers.org/clinvar/150337 ^@ GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 http://identifiers.org/clinvar/150338 ^@ GRCh38/hg38 12q21.32(chr12:86572479-86881491)x1 http://identifiers.org/clinvar/150339 ^@ GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1 http://identifiers.org/clinvar/150340 ^@ GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 http://identifiers.org/clinvar/150341 ^@ GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 http://identifiers.org/clinvar/150342 ^@ GRCh38/hg38 9p24.3(chr9:325759-500607)x3 http://identifiers.org/clinvar/150343 ^@ GRCh38/hg38 4p16.1(chr4:7237156-7730219)x3 http://identifiers.org/clinvar/150344 ^@ GRCh38/hg38 12p11.1(chr12:33669269-33926934)x3 http://identifiers.org/clinvar/150345 ^@ GRCh38/hg38 13q31.1(chr13:79095741-79246557)x3 http://identifiers.org/clinvar/150346 ^@ GRCh38/hg38 7q34(chr7:142728507-142753000)x3 http://identifiers.org/clinvar/150348 ^@ GRCh38/hg38 2p11.2(chr2:86062007-86282203)x3 http://identifiers.org/clinvar/150349 ^@ GRCh38/hg38 8p23.1(chr8:7411303-7895074)x1 http://identifiers.org/clinvar/150350 ^@ GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 http://identifiers.org/clinvar/150351 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3 http://identifiers.org/clinvar/150352 ^@ GRCh38/hg38 9q33.1(chr9:115444030-116190111)x3 http://identifiers.org/clinvar/150353 ^@ GRCh38/hg38 1q44(chr1:247682929-248521590)x3 http://identifiers.org/clinvar/150354 ^@ GRCh38/hg38 19q13.2-13.31(chr19:42738659-43080347)x1 http://identifiers.org/clinvar/150355 ^@ GRCh38/hg38 Xp22.2(chrX:15988331-16545920)x2 http://identifiers.org/clinvar/150356 ^@ GRCh38/hg38 3p26.3(chr3:2289743-2342300)x1 http://identifiers.org/clinvar/150358 ^@ GRCh38/hg38 Xq28(chrX:155611617-155699644)x3 http://identifiers.org/clinvar/150359 ^@ GRCh38/hg38 2p16.3(chr2:50751318-50856339)x1 http://identifiers.org/clinvar/150360 ^@ GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 http://identifiers.org/clinvar/150361 ^@ GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1 http://identifiers.org/clinvar/150362 ^@ GRCh38/hg38 2q21.1(chr2:131337384-131605323)x1 http://identifiers.org/clinvar/150363 ^@ GRCh38/hg38 1p21.3(chr1:98477261-99235028)x1 http://identifiers.org/clinvar/150367 ^@ GRCh38/hg38 8q23.3(chr8:113104074-113326221)x1 http://identifiers.org/clinvar/150368 ^@ GRCh38/hg38 5q14.3(chr5:88744060-88749622)x1 http://identifiers.org/clinvar/150373 ^@ GRCh38/hg38 3p14.1(chr3:65157318-65536414)x1 http://identifiers.org/clinvar/150375 ^@ GRCh38/hg38 12p12.3(chr12:18192792-18439746)x1 http://identifiers.org/clinvar/150376 ^@ GRCh38/hg38 Xq24(chrX:120666321-121243925)x3 http://identifiers.org/clinvar/150377 ^@ GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1 http://identifiers.org/clinvar/150379 ^@ GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 http://identifiers.org/clinvar/150380 ^@ GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 http://identifiers.org/clinvar/150381 ^@ GRCh38/hg38 Xp22.33(chrX:620976-1506411)x3 http://identifiers.org/clinvar/150382 ^@ GRCh38/hg38 17p12(chr17:15190283-15952996)x3 http://identifiers.org/clinvar/150383 ^@ GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 http://identifiers.org/clinvar/150385 ^@ GRCh38/hg38 3p26.3(chr3:1325733-1798654)x1 http://identifiers.org/clinvar/150386 ^@ GRCh38/hg38 Xp22.33(chrX:2782275-2881379)x2 http://identifiers.org/clinvar/150388 ^@ GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3 http://identifiers.org/clinvar/150390 ^@ GRCh38/hg38 13q31.1-31.3(chr13:85096618-89805641)x3 http://identifiers.org/clinvar/150391 ^@ GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3 http://identifiers.org/clinvar/150392 ^@ GRCh38/hg38 7p14.3(chr7:33232881-33466772)x1 http://identifiers.org/clinvar/150393 ^@ GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1 http://identifiers.org/clinvar/150398 ^@ GRCh38/hg38 22q11.21(chr22:20711594-21151128)x3 http://identifiers.org/clinvar/150399 ^@ GRCh38/hg38 22q11.21(chr22:20711594-21151128)x1 http://identifiers.org/clinvar/150400 ^@ GRCh38/hg38 15q11.2(chr15:24224945-24531137)x3 http://identifiers.org/clinvar/150401 ^@ GRCh38/hg38 15q11.2(chr15:24224945-24531137)x1 http://identifiers.org/clinvar/150402 ^@ GRCh38/hg38 9p12(chr9:39583346-39600741)x3 http://identifiers.org/clinvar/150403 ^@ GRCh38/hg38 8p23.1(chr8:7300731-7981415)x3 http://identifiers.org/clinvar/150404 ^@ GRCh38/hg38 Xq28(chrX:155081733-155331062)x3 http://identifiers.org/clinvar/150405 ^@ GRCh38/hg38 13q13.1(chr13:31697065-31773113)x1 http://identifiers.org/clinvar/150406 ^@ GRCh38/hg38 Xp22.2(chrX:15946199-16187418)x3 http://identifiers.org/clinvar/150407 ^@ GRCh38/hg38 1p36.21(chr1:12852720-13330100)x1 http://identifiers.org/clinvar/150408 ^@ GRCh38/hg38 5q23.2(chr5:126786744-126797308)x1 http://identifiers.org/clinvar/150409 ^@ GRCh38/hg38 Xp11.23(chrX:48153684-48344664)x3 http://identifiers.org/clinvar/150410 ^@ GRCh38/hg38 5q34(chr5:164013938-164563774)x1 http://identifiers.org/clinvar/150411 ^@ GRCh38/hg38 8p23.2(chr8:2605460-3036751)x3 http://identifiers.org/clinvar/150412 ^@ GRCh38/hg38 12q12(chr12:38411876-38569858)x3 http://identifiers.org/clinvar/150413 ^@ GRCh38/hg38 15q14(chr15:34334908-34671997)x1 http://identifiers.org/clinvar/150414 ^@ GRCh38/hg38 11q25(chr11:134609244-134792872)x3 http://identifiers.org/clinvar/150415 ^@ GRCh38/hg38 Xp22.33(chrX:586544-587275)x0 http://identifiers.org/clinvar/150416 ^@ GRCh38/hg38 4q31.21(chr4:143763458-143984618)x1 http://identifiers.org/clinvar/150417 ^@ GRCh38/hg38 6q24.1(chr6:140828839-141361274)x3 http://identifiers.org/clinvar/150418 ^@ GRCh38/hg38 16p13.3(chr16:6941377-6967574)x1 http://identifiers.org/clinvar/150419 ^@ GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3 http://identifiers.org/clinvar/150420 ^@ GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1 http://identifiers.org/clinvar/150421 ^@ GRCh38/hg38 12q24.23(chr12:119364009-119606602)x3 http://identifiers.org/clinvar/150422 ^@ GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 http://identifiers.org/clinvar/150423 ^@ GRCh38/hg38 16p11.2-11.1(chr16:35247701-35493160)x3 http://identifiers.org/clinvar/150424 ^@ GRCh38/hg38 15q26.3(chr15:101920908-101962415)x3 http://identifiers.org/clinvar/150425 ^@ GRCh38/hg38 14q32.33(chr14:106692695-106781642)x1 http://identifiers.org/clinvar/150426 ^@ GRCh38/hg38 15q26.2(chr15:96326287-96330171)x3 http://identifiers.org/clinvar/150428 ^@ GRCh38/hg38 9p23(chr9:12114237-12302670)x1 http://identifiers.org/clinvar/150429 ^@ GRCh38/hg38 8p23.3(chr8:592299-611272)x1 http://identifiers.org/clinvar/150430 ^@ GRCh38/hg38 6q12(chr6:66182680-66626893)x1 http://identifiers.org/clinvar/150432 ^@ GRCh38/hg38 Xq28(chrX:153689467-153697345)x2 http://identifiers.org/clinvar/150433 ^@ GRCh38/hg38 22q11.22(chr22:21981865-22140715)x3 http://identifiers.org/clinvar/150434 ^@ GRCh38/hg38 14q11.2(chr14:21919182-22201679)x3 http://identifiers.org/clinvar/150435 ^@ GRCh38/hg38 7p22.3(chr7:54165-227860)x3 http://identifiers.org/clinvar/150436 ^@ GRCh38/hg38 9p21.1(chr9:31144869-31712955)x1 http://identifiers.org/clinvar/150437 ^@ GRCh38/hg38 3p24.1(chr3:28103194-29104771)x3 http://identifiers.org/clinvar/150438 ^@ GRCh38/hg38 13q31.3(chr13:91896856-91922860)x1 http://identifiers.org/clinvar/150439 ^@ GRCh38/hg38 17q21.31(chr17:46219761-46661960)x3 http://identifiers.org/clinvar/150440 ^@ GRCh38/hg38 6p25.3(chr6:296464-366639)x3 http://identifiers.org/clinvar/150441 ^@ GRCh38/hg38 8p23.1(chr8:7142958-7895074)x3 http://identifiers.org/clinvar/150442 ^@ GRCh38/hg38 8q23.3(chr8:111427412-111685262)x1 http://identifiers.org/clinvar/150443 ^@ GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x3 http://identifiers.org/clinvar/150444 ^@ GRCh38/hg38 14q32.33(chr14:106850940-106861535)x3 http://identifiers.org/clinvar/150445 ^@ GRCh38/hg38 22q11.1(chr22:17019526-17034447)x1 http://identifiers.org/clinvar/150448 ^@ GRCh38/hg38 Xq11.2(chrX:64958462-65369941)x2 http://identifiers.org/clinvar/150449 ^@ GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x1 http://identifiers.org/clinvar/150450 ^@ GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 http://identifiers.org/clinvar/150451 ^@ GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 http://identifiers.org/clinvar/150452 ^@ GRCh38/hg38 17q22(chr17:53575894-54652507)x3 http://identifiers.org/clinvar/150453 ^@ GRCh38/hg38 3p26.3(chr3:2229468-2248497)x1 http://identifiers.org/clinvar/150454 ^@ GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3 http://identifiers.org/clinvar/150455 ^@ GRCh38/hg38 14q21.2(chr14:45284770-45510411)x1 http://identifiers.org/clinvar/150456 ^@ GRCh38/hg38 16q23.1(chr16:78353142-78891829)x1 http://identifiers.org/clinvar/150457 ^@ GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3 http://identifiers.org/clinvar/150460 ^@ GRCh38/hg38 Xq22.1(chrX:100650751-100680705)x3 http://identifiers.org/clinvar/150461 ^@ GRCh38/hg38 2p16.3(chr2:50931078-51009926)x3 http://identifiers.org/clinvar/150462 ^@ GRCh38/hg38 2q36.3(chr2:229778841-229969215)x3 http://identifiers.org/clinvar/150463 ^@ GRCh38/hg38 10q23.1(chr10:82320104-82494758)x1 http://identifiers.org/clinvar/150464 ^@ GRCh38/hg38 11q25(chr11:134511773-134998526)x1 http://identifiers.org/clinvar/150465 ^@ GRCh38/hg38 17q11.1(chr17:27318489-27364149)x1 http://identifiers.org/clinvar/150466 ^@ GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 http://identifiers.org/clinvar/150467 ^@ GRCh38/hg38 2p16.3(chr2:49910932-52462336)x1 http://identifiers.org/clinvar/150470 ^@ GRCh38/hg38 4q27(chr4:120668638-120827692)x3 http://identifiers.org/clinvar/150471 ^@ GRCh38/hg38 5p15.33(chr5:22149-90168)x3 http://identifiers.org/clinvar/150472 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/150473 ^@ GRCh38/hg38 11q23.3(chr11:115159099-115463477)x3 http://identifiers.org/clinvar/150474 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1 http://identifiers.org/clinvar/150475 ^@ GRCh38/hg38 4p15.32(chr4:15796371-16062609)x1 http://identifiers.org/clinvar/150476 ^@ GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0 http://identifiers.org/clinvar/150477 ^@ GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 http://identifiers.org/clinvar/150478 ^@ GRCh38/hg38 9p24.2(chr9:2430846-2826706)x1 http://identifiers.org/clinvar/150479 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1 http://identifiers.org/clinvar/150480 ^@ GRCh38/hg38 10p12.31(chr10:20871764-20994538)x3 http://identifiers.org/clinvar/150481 ^@ GRCh38/hg38 6q11.1(chr6:60452042-60679145)x3 http://identifiers.org/clinvar/150482 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147036155-147945622)x1 http://identifiers.org/clinvar/150483 ^@ GRCh38/hg38 4q13.2(chr4:68508935-68626378)x3 http://identifiers.org/clinvar/150484 ^@ GRCh38/hg38 5p15.33(chr5:733335-821948)x3 http://identifiers.org/clinvar/150486 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 http://identifiers.org/clinvar/150487 ^@ GRCh38/hg38 6q11.1(chr6:62234756-62581081)x3 http://identifiers.org/clinvar/150488 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 http://identifiers.org/clinvar/150489 ^@ GRCh38/hg38 9p23(chr9:11610362-11780457)x3 http://identifiers.org/clinvar/150490 ^@ GRCh38/hg38 1q31.1(chr1:189205787-189362140)x1 http://identifiers.org/clinvar/150491 ^@ GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 http://identifiers.org/clinvar/150492 ^@ GRCh38/hg38 Xp22.33(chrX:3026061-3570788)x2 http://identifiers.org/clinvar/150494 ^@ GRCh38/hg38 8p11.23-11.22(chr8:38046362-39172253)x1 http://identifiers.org/clinvar/150495 ^@ GRCh38/hg38 16p13.3(chr16:6624323-6692732)x3 http://identifiers.org/clinvar/150497 ^@ GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1 http://identifiers.org/clinvar/150498 ^@ GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 http://identifiers.org/clinvar/150499 ^@ GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 http://identifiers.org/clinvar/150503 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 http://identifiers.org/clinvar/150505 ^@ GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3 http://identifiers.org/clinvar/150507 ^@ GRCh38/hg38 Yp11.2(chrY:1441666-1791189)x0 http://identifiers.org/clinvar/150510 ^@ GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 http://identifiers.org/clinvar/150513 ^@ GRCh38/hg38 16p13.3(chr16:412341-925326)x3 http://identifiers.org/clinvar/150514 ^@ GRCh38/hg38 20p12.1(chr20:15060833-15364883)x1 http://identifiers.org/clinvar/150515 ^@ GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1 http://identifiers.org/clinvar/150516 ^@ GRCh38/hg38 14q22.3(chr14:56345200-56917270)x3 http://identifiers.org/clinvar/150519 ^@ GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 http://identifiers.org/clinvar/150520 ^@ GRCh38/hg38 3q26.1(chr3:162208211-164554826)x1 http://identifiers.org/clinvar/150521 ^@ GRCh38/hg38 4p16.2(chr4:5185148-5401207)x1 http://identifiers.org/clinvar/150522 ^@ GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 http://identifiers.org/clinvar/150523 ^@ GRCh38/hg38 2q21.2(chr2:132907192-133167401)x1 http://identifiers.org/clinvar/150524 ^@ GRCh38/hg38 Xq27.2(chrX:141603434-141676076)x2 http://identifiers.org/clinvar/150525 ^@ GRCh38/hg38 9q21.11(chr9:67079903-67215558)x3 http://identifiers.org/clinvar/150526 ^@ GRCh38/hg38 9p12(chr9:39193255-39267722)x3 http://identifiers.org/clinvar/150527 ^@ GRCh38/hg38 4p11(chr4:48782301-49081285)x3 http://identifiers.org/clinvar/150528 ^@ GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1 http://identifiers.org/clinvar/150529 ^@ GRCh38/hg38 9p22.3(chr9:14210979-14542070)x3 http://identifiers.org/clinvar/150530 ^@ GRCh38/hg38 13q31.1(chr13:81826523-82032989)x3 http://identifiers.org/clinvar/150531 ^@ GRCh38/hg38 1p33(chr1:46969963-47200507)x3 http://identifiers.org/clinvar/150532 ^@ GRCh38/hg38 7q11.22(chr7:68417455-68782672)x1 http://identifiers.org/clinvar/150533 ^@ GRCh38/hg38 3p14.3(chr3:55091053-55410518)x1 http://identifiers.org/clinvar/150534 ^@ GRCh38/hg38 13q33.3(chr13:106975147-107918257)x3 http://identifiers.org/clinvar/150535 ^@ GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3 http://identifiers.org/clinvar/150536 ^@ GRCh38/hg38 11p15.4(chr11:4241592-4346063)x3 http://identifiers.org/clinvar/150537 ^@ GRCh38/hg38 9p11.2-11.1(chr9:41977991-42334695)x3 http://identifiers.org/clinvar/150538 ^@ GRCh38/hg38 9q21.11(chr9:67060361-67215558)x3 http://identifiers.org/clinvar/150539 ^@ GRCh38/hg38 6p25.3(chr6:259531-296523)x3 http://identifiers.org/clinvar/150540 ^@ GRCh38/hg38 15q26.3(chr15:99074961-99338359)x3 http://identifiers.org/clinvar/150541 ^@ GRCh38/hg38 17p13.3(chr17:279582-722097)x3 http://identifiers.org/clinvar/150542 ^@ GRCh38/hg38 1q23.3(chr1:161589951-161649210)x3 http://identifiers.org/clinvar/150543 ^@ GRCh38/hg38 22q11.21(chr22:18522968-18606751)x3 http://identifiers.org/clinvar/150544 ^@ GRCh38/hg38 22q11.21(chr22:18902649-19023018)x3 http://identifiers.org/clinvar/150545 ^@ GRCh38/hg38 14q32.33(chr14:106118296-106467900)x3 http://identifiers.org/clinvar/150546 ^@ GRCh38/hg38 3q29(chr3:195622114-195737540)x3 http://identifiers.org/clinvar/150547 ^@ GRCh38/hg38 9p24.3(chr9:204090-271186)x3 http://identifiers.org/clinvar/150548 ^@ GRCh38/hg38 17q21.31(chr17:45579327-46130578)x1 http://identifiers.org/clinvar/150549 ^@ GRCh38/hg38 12p13.31(chr12:9244854-9541356)x3 http://identifiers.org/clinvar/150550 ^@ GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3 http://identifiers.org/clinvar/150552 ^@ GRCh38/hg38 2p11.2(chr2:89264392-89918199)x1 http://identifiers.org/clinvar/150554 ^@ GRCh38/hg38 9p24.3(chr9:266054-304530)x3 http://identifiers.org/clinvar/150555 ^@ GRCh38/hg38 8p22(chr8:14123684-14283418)x3 http://identifiers.org/clinvar/150556 ^@ GRCh38/hg38 10p15.3(chr10:490767-771136)x3 http://identifiers.org/clinvar/150557 ^@ GRCh38/hg38 11p14.3(chr11:23688729-24042573)x1 http://identifiers.org/clinvar/150558 ^@ GRCh38/hg38 Xq21.31(chrX:91702160-91776142)x0 http://identifiers.org/clinvar/150559 ^@ GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 http://identifiers.org/clinvar/150560 ^@ GRCh38/hg38 Xp22.33(chrX:1636755-1816481)x3 http://identifiers.org/clinvar/150561 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:141090584-141650260)x3 http://identifiers.org/clinvar/150562 ^@ GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 http://identifiers.org/clinvar/150563 ^@ GRCh38/hg38 12q23.3(chr12:107392918-107670894)x3 http://identifiers.org/clinvar/150564 ^@ GRCh38/hg38 8p11.21-11.1(chr8:43003468-43686841)x3 http://identifiers.org/clinvar/150565 ^@ GRCh38/hg38 20p13(chr20:80093-1246766)x1 http://identifiers.org/clinvar/150566 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 http://identifiers.org/clinvar/150567 ^@ GRCh38/hg38 14q32.33(chr14:106781583-106806642)x1 http://identifiers.org/clinvar/150568 ^@ GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1 http://identifiers.org/clinvar/150569 ^@ GRCh38/hg38 17p13.1(chr17:10112898-10444811)x3 http://identifiers.org/clinvar/150570 ^@ GRCh38/hg38 2q37.3(chr2:241856400-242027723)x1 http://identifiers.org/clinvar/150571 ^@ GRCh38/hg38 10q21.1(chr10:57200350-57512400)x1 http://identifiers.org/clinvar/150574 ^@ GRCh38/hg38 Xp22.2(chrX:13750109-13831746)x3 http://identifiers.org/clinvar/150577 ^@ GRCh38/hg38 12q21.32(chr12:86443917-87324781)x1 http://identifiers.org/clinvar/150578 ^@ GRCh38/hg38 Yp11.2(chrY:8989965-9527547)x2 http://identifiers.org/clinvar/150583 ^@ GRCh38/hg38 1p31.3(chr1:61234758-61654090)x3 http://identifiers.org/clinvar/150584 ^@ GRCh38/hg38 3q13.33(chr3:120641434-121254322)x3 http://identifiers.org/clinvar/150590 ^@ GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1 http://identifiers.org/clinvar/150591 ^@ GRCh38/hg38 Yp11.32-11.2(chrY:10701-1223133)x0 http://identifiers.org/clinvar/150592 ^@ GRCh38/hg38 7p14.3(chr7:30621519-31115117)x3 http://identifiers.org/clinvar/150593 ^@ GRCh38/hg38 7q11.22-11.23(chr7:72303992-72724792)x1 http://identifiers.org/clinvar/150594 ^@ GRCh38/hg38 9q33.1(chr9:116328021-117227757)x1 http://identifiers.org/clinvar/150595 ^@ GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 http://identifiers.org/clinvar/150596 ^@ GRCh38/hg38 Xp22.31(chrX:8467892-8563130)x2 http://identifiers.org/clinvar/150597 ^@ GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1 http://identifiers.org/clinvar/150598 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6299210-7244644)x3 http://identifiers.org/clinvar/150599 ^@ GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 http://identifiers.org/clinvar/150600 ^@ GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 http://identifiers.org/clinvar/150602 ^@ GRCh38/hg38 2p16.3(chr2:50599412-50698758)x1 http://identifiers.org/clinvar/150605 ^@ GRCh38/hg38 5p15.31(chr5:7634264-8158777)x3 http://identifiers.org/clinvar/150606 ^@ GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 http://identifiers.org/clinvar/150608 ^@ GRCh38/hg38 Xp22.2(chrX:15932578-16523337)x3 http://identifiers.org/clinvar/150609 ^@ GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 http://identifiers.org/clinvar/150610 ^@ GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1 http://identifiers.org/clinvar/150611 ^@ GRCh38/hg38 17p13.3(chr17:1332460-1458196)x3 http://identifiers.org/clinvar/150613 ^@ GRCh38/hg38 4p16.3(chr4:72555-1581567)x1 http://identifiers.org/clinvar/150615 ^@ GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 http://identifiers.org/clinvar/150616 ^@ GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1 http://identifiers.org/clinvar/150617 ^@ GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1 http://identifiers.org/clinvar/150618 ^@ GRCh38/hg38 8p23.3(chr8:655784-1736828)x1 http://identifiers.org/clinvar/150619 ^@ GRCh38/hg38 11q25(chr11:134483920-134745792)x1 http://identifiers.org/clinvar/150620 ^@ GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 http://identifiers.org/clinvar/150622 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3 http://identifiers.org/clinvar/150624 ^@ GRCh38/hg38 3q25.32(chr3:158209010-158465583)x0 http://identifiers.org/clinvar/150625 ^@ GRCh38/hg38 12q24.32(chr12:126526398-127998599)x3 http://identifiers.org/clinvar/150626 ^@ GRCh38/hg38 9q33.1(chr9:115007759-115251861)x1 http://identifiers.org/clinvar/150628 ^@ GRCh38/hg38 Xq28(chrX:154539013-154545901)x2 http://identifiers.org/clinvar/150630 ^@ GRCh38/hg38 Xq21.33-22.1(chrX:98369057-100524621)x1 http://identifiers.org/clinvar/150631 ^@ GRCh38/hg38 Xq12(chrX:66408361-66746816)x1 http://identifiers.org/clinvar/150632 ^@ GRCh38/hg38 Xq21.1(chrX:80711040-80734149)x1 http://identifiers.org/clinvar/150633 ^@ GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3 http://identifiers.org/clinvar/150634 ^@ GRCh38/hg38 3q26.1(chr3:167281403-167554689)x1 http://identifiers.org/clinvar/150635 ^@ GRCh38/hg38 17q21.31(chr17:43124234-43520458)x3 http://identifiers.org/clinvar/150636 ^@ GRCh38/hg38 8q23.3(chr8:115401331-115502029)x1 http://identifiers.org/clinvar/150637 ^@ GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1 http://identifiers.org/clinvar/150638 ^@ GRCh38/hg38 8p23.3(chr8:820001-1406350)x3 http://identifiers.org/clinvar/150639 ^@ GRCh38/hg38 22q11.21(chr22:19329832-19332293)x3 http://identifiers.org/clinvar/150640 ^@ GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 http://identifiers.org/clinvar/150641 ^@ GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 http://identifiers.org/clinvar/150642 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1 http://identifiers.org/clinvar/150643 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22669599-23312050)x1 http://identifiers.org/clinvar/150644 ^@ GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3 http://identifiers.org/clinvar/150646 ^@ GRCh38/hg38 15q26.3(chr15:100515544-101045707)x3 http://identifiers.org/clinvar/150647 ^@ GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 http://identifiers.org/clinvar/150648 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30629714-31045307)x1 http://identifiers.org/clinvar/150649 ^@ GRCh38/hg38 1q25.2(chr1:180062193-180251550)x3 http://identifiers.org/clinvar/150650 ^@ GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 http://identifiers.org/clinvar/150651 ^@ GRCh38/hg38 22q11.21(chr22:18718487-18996999)x3 http://identifiers.org/clinvar/150652 ^@ GRCh38/hg38 7q34(chr7:142578930-142752607)x3 http://identifiers.org/clinvar/150653 ^@ GRCh38/hg38 12p13.31(chr12:7850905-8455624)x1 http://identifiers.org/clinvar/150654 ^@ GRCh38/hg38 16q11.2(chr16:46500564-46579319)x1 http://identifiers.org/clinvar/150655 ^@ GRCh38/hg38 5q13.2(chr5:69553776-71317498)x1 http://identifiers.org/clinvar/150657 ^@ GRCh38/hg38 16p11.2(chr16:32562492-32735522)x3 http://identifiers.org/clinvar/150658 ^@ GRCh38/hg38 15q11.2(chr15:23174489-23221008)x3 http://identifiers.org/clinvar/150659 ^@ GRCh38/hg38 6p25.3(chr6:259531-293782)x3 http://identifiers.org/clinvar/150660 ^@ GRCh38/hg38 4q22.1-22.2(chr4:92736560-92865617)x1 http://identifiers.org/clinvar/150661 ^@ GRCh38/hg38 Xp22.33(chrX:2782037-2881385)x2 http://identifiers.org/clinvar/150662 ^@ GRCh38/hg38 14q32.33(chr14:106707789-106774412)x1 http://identifiers.org/clinvar/150663 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/150664 ^@ GRCh38/hg38 14q11.2(chr14:21973759-22428036)x3 http://identifiers.org/clinvar/150665 ^@ GRCh38/hg38 11q12.1(chr11:59024653-59079438)x3 http://identifiers.org/clinvar/150666 ^@ GRCh38/hg38 15q22.31(chr15:64946408-65006295)x1 http://identifiers.org/clinvar/150667 ^@ GRCh38/hg38 17q12(chr17:36167804-36421711)x3 http://identifiers.org/clinvar/150668 ^@ GRCh38/hg38 5p15.33(chr5:710402-795718)x3 http://identifiers.org/clinvar/150669 ^@ GRCh38/hg38 18p11.32(chr18:1652652-1725155)x1 http://identifiers.org/clinvar/150670 ^@ GRCh38/hg38 17q21.31(chr17:46348112-46661960)x3 http://identifiers.org/clinvar/150671 ^@ GRCh38/hg38 21q22.3(chr21:45165766-45411930)x3 http://identifiers.org/clinvar/150672 ^@ GRCh38/hg38 1q25.1(chr1:173938666-174111110)x1 http://identifiers.org/clinvar/150673 ^@ GRCh38/hg38 3p22.3(chr3:34162387-34465062)x3 http://identifiers.org/clinvar/150674 ^@ GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 http://identifiers.org/clinvar/150675 ^@ GRCh38/hg38 14q11.2(chr14:20223278-20248671)x3 http://identifiers.org/clinvar/150676 ^@ GRCh38/hg38 15q15.3(chr15:43624777-43643696)x3 http://identifiers.org/clinvar/150677 ^@ GRCh38/hg38 2q31.3(chr2:179732688-180780475)x3 http://identifiers.org/clinvar/150678 ^@ GRCh38/hg38 Xp11.21(chrX:58026480-58055053)x0 http://identifiers.org/clinvar/150679 ^@ GRCh38/hg38 4q13.2(chr4:68508935-68617567)x3 http://identifiers.org/clinvar/150683 ^@ GRCh38/hg38 Xp11.21(chrX:57678469-57979565)x2 http://identifiers.org/clinvar/150684 ^@ GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1 http://identifiers.org/clinvar/150685 ^@ GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 http://identifiers.org/clinvar/150686 ^@ GRCh38/hg38 11q25(chr11:134430704-134850524)x3 http://identifiers.org/clinvar/150687 ^@ GRCh38/hg38 16q11.2(chr16:46471685-46767956)x3 http://identifiers.org/clinvar/150688 ^@ GRCh38/hg38 21q22.12(chr21:35383466-35408413)x3 http://identifiers.org/clinvar/150689 ^@ GRCh38/hg38 4q31.21(chr4:143823647-144112197)x3 http://identifiers.org/clinvar/150690 ^@ GRCh38/hg38 9q21.33(chr9:84837563-85740812)x3 http://identifiers.org/clinvar/150692 ^@ GRCh38/hg38 4p16.2-16.1(chr4:5859050-6557271)x1 http://identifiers.org/clinvar/150693 ^@ GRCh38/hg38 1p21.1-13.3(chr1:103474348-106724941)x1 http://identifiers.org/clinvar/150694 ^@ GRCh38/hg38 13q31.1(chr13:79491744-79675567)x1 http://identifiers.org/clinvar/150695 ^@ GRCh38/hg38 3p26.3(chr3:996785-1699156)x3 http://identifiers.org/clinvar/150697 ^@ GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1 http://identifiers.org/clinvar/150698 ^@ GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 http://identifiers.org/clinvar/150700 ^@ GRCh38/hg38 6q26(chr6:162232971-162629368)x1 http://identifiers.org/clinvar/150701 ^@ GRCh38/hg38 16q22.2(chr16:70921266-71133362)x3 http://identifiers.org/clinvar/150702 ^@ GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3 http://identifiers.org/clinvar/150703 ^@ GRCh38/hg38 11p12(chr11:40858804-41409293)x1 http://identifiers.org/clinvar/150704 ^@ GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3 http://identifiers.org/clinvar/150705 ^@ GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1 http://identifiers.org/clinvar/150706 ^@ GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1 http://identifiers.org/clinvar/150707 ^@ GRCh38/hg38 3p26.1(chr3:5480212-6021456)x3 http://identifiers.org/clinvar/150708 ^@ GRCh38/hg38 7p11.2(chr7:55560824-55660814)x3 http://identifiers.org/clinvar/150709 ^@ GRCh38/hg38 6q27(chr6:167963618-170597678)x1 http://identifiers.org/clinvar/150710 ^@ GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 http://identifiers.org/clinvar/150712 ^@ GRCh38/hg38 1q44(chr1:248826567-248918467)x1 http://identifiers.org/clinvar/150713 ^@ GRCh38/hg38 2p16.3(chr2:50691323-50780852)x1 http://identifiers.org/clinvar/150714 ^@ GRCh38/hg38 Xp22.31(chrX:7710844-8129470)x3 http://identifiers.org/clinvar/150715 ^@ GRCh38/hg38 Xq21.31(chrX:91946774-91977012)x1 http://identifiers.org/clinvar/150716 ^@ GRCh38/hg38 6p21.33(chr6:31980353-32041234)x3 http://identifiers.org/clinvar/150717 ^@ GRCh38/hg38 1q31.1(chr1:189886354-190290250)x1 http://identifiers.org/clinvar/150718 ^@ GRCh38/hg38 19p12(chr19:24155508-24195701)x3 http://identifiers.org/clinvar/150719 ^@ GRCh38/hg38 13q31.3(chr13:90215529-90363964)x1 http://identifiers.org/clinvar/150720 ^@ GRCh38/hg38 2q21.1(chr2:131340404-131643336)x1 http://identifiers.org/clinvar/150721 ^@ GRCh38/hg38 2q32.3(chr2:192885801-194352688)x3 http://identifiers.org/clinvar/150722 ^@ GRCh38/hg38 7p22.3(chr7:127155-214573)x3 http://identifiers.org/clinvar/150723 ^@ GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 http://identifiers.org/clinvar/150724 ^@ GRCh38/hg38 8p23.2-23.1(chr8:2605460-6605579)x3 http://identifiers.org/clinvar/150725 ^@ GRCh38/hg38 15q26.3(chr15:101685919-101843276)x1 http://identifiers.org/clinvar/150726 ^@ GRCh38/hg38 6q11.1-12(chr6:62375505-62988460)x3 http://identifiers.org/clinvar/150727 ^@ GRCh38/hg38 16p13.3(chr16:6922284-6976423)x1 http://identifiers.org/clinvar/150728 ^@ GRCh38/hg38 12p12.3(chr12:15592098-16120442)x3 http://identifiers.org/clinvar/150729 ^@ GRCh38/hg38 4q13.3(chr4:72888410-73179113)x3 http://identifiers.org/clinvar/150730 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146046631)x1 http://identifiers.org/clinvar/150731 ^@ GRCh38/hg38 14q11.2(chr14:19734017-19938168)x1 http://identifiers.org/clinvar/150732 ^@ GRCh38/hg38 2q37.3(chr2:241914448-242126243)x1 http://identifiers.org/clinvar/150733 ^@ GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 http://identifiers.org/clinvar/150734 ^@ GRCh38/hg38 4p16.3(chr4:72428-162374)x3 http://identifiers.org/clinvar/150735 ^@ GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 http://identifiers.org/clinvar/150736 ^@ GRCh38/hg38 2q37.3(chr2:239049058-239189273)x3 http://identifiers.org/clinvar/150737 ^@ GRCh38/hg38 5q14.3(chr5:89913177-90559619)x1 http://identifiers.org/clinvar/150738 ^@ GRCh38/hg38 7q35(chr7:146372225-146496919)x1 http://identifiers.org/clinvar/150740 ^@ GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 http://identifiers.org/clinvar/150741 ^@ GRCh38/hg38 17q22-23.1(chr17:59151705-59547602)x3 http://identifiers.org/clinvar/150742 ^@ GRCh38/hg38 8q11.21(chr8:49294687-49796726)x1 http://identifiers.org/clinvar/150743 ^@ GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 http://identifiers.org/clinvar/150744 ^@ GRCh38/hg38 Xp22.2(chrX:15360898-15685709)x2 http://identifiers.org/clinvar/150745 ^@ GRCh38/hg38 15q15.3(chr15:43624777-43632088)x3 http://identifiers.org/clinvar/150746 ^@ GRCh38/hg38 16p13.3(chr16:115398-157688)x3 http://identifiers.org/clinvar/150747 ^@ GRCh38/hg38 Xq21.31(chrX:91197015-91252887)x2 http://identifiers.org/clinvar/150748 ^@ GRCh38/hg38 Xq21.31(chrX:89588235-89865360)x2 http://identifiers.org/clinvar/150749 ^@ GRCh38/hg38 Xq21.31(chrX:91485552-91880155)x2 http://identifiers.org/clinvar/150750 ^@ GRCh38/hg38 15q13.3(chr15:31772780-32343756)x3 http://identifiers.org/clinvar/150751 ^@ GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 http://identifiers.org/clinvar/150752 ^@ GRCh38/hg38 2q13(chr2:110025674-110207198)x3 http://identifiers.org/clinvar/150753 ^@ GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3 http://identifiers.org/clinvar/150754 ^@ GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 http://identifiers.org/clinvar/150755 ^@ GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 http://identifiers.org/clinvar/150756 ^@ GRCh38/hg38 16q23.1(chr16:74168929-74372238)x3 http://identifiers.org/clinvar/150757 ^@ GRCh38/hg38 9p24.2(chr9:3755152-3965567)x3 http://identifiers.org/clinvar/150758 ^@ GRCh38/hg38 19p13.3(chr19:362041-471717)x3 http://identifiers.org/clinvar/150759 ^@ GRCh38/hg38 16q11.2(chr16:46466703-46619102)x3 http://identifiers.org/clinvar/150760 ^@ GRCh38/hg38 6p12.3(chr6:48201006-48610760)x1 http://identifiers.org/clinvar/150761 ^@ GRCh38/hg38 16p13.11(chr16:14816356-15140605)x1 http://identifiers.org/clinvar/150764 ^@ GRCh38/hg38 1q31.1(chr1:189310653-189543770)x1 http://identifiers.org/clinvar/150766 ^@ GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1 http://identifiers.org/clinvar/150767 ^@ GRCh38/hg38 6q22.31(chr6:123206369-123959291)x3 http://identifiers.org/clinvar/150768 ^@ GRCh38/hg38 4p16.3(chr4:37335-133536)x3 http://identifiers.org/clinvar/150769 ^@ GRCh38/hg38 4q25(chr4:112894546-113085255)x1 http://identifiers.org/clinvar/150770 ^@ GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 http://identifiers.org/clinvar/150771 ^@ GRCh38/hg38 Xp11.22(chrX:51521752-52274330)x0 http://identifiers.org/clinvar/150772 ^@ GRCh38/hg38 7q11.21(chr7:65149475-65414369)x1 http://identifiers.org/clinvar/150773 ^@ GRCh38/hg38 16p11.1(chr16:35786379-35834564)x3 http://identifiers.org/clinvar/150774 ^@ GRCh38/hg38 5q13.2(chr5:69495443-71032915)x1 http://identifiers.org/clinvar/150775 ^@ GRCh38/hg38 Xq22.3(chrX:107140369-107363400)x3 http://identifiers.org/clinvar/150776 ^@ GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1 http://identifiers.org/clinvar/150777 ^@ GRCh38/hg38 20q13.2(chr20:55469695-55681590)x3 http://identifiers.org/clinvar/150778 ^@ GRCh38/hg38 Xp11.22(chrX:50659076-50865411)x3 http://identifiers.org/clinvar/150779 ^@ GRCh38/hg38 14q32.33(chr14:106678773-106774412)x1 http://identifiers.org/clinvar/150780 ^@ GRCh38/hg38 Xq21.1(chrX:77995123-78039221)x0 http://identifiers.org/clinvar/150781 ^@ GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3 http://identifiers.org/clinvar/150782 ^@ GRCh38/hg38 3q29(chr3:197958670-198110198)x3 http://identifiers.org/clinvar/150783 ^@ GRCh38/hg38 3q29(chr3:197862644-198110198)x3 http://identifiers.org/clinvar/150784 ^@ GRCh38/hg38 6q27(chr6:167963618-168218824)x3 http://identifiers.org/clinvar/150785 ^@ GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 http://identifiers.org/clinvar/150786 ^@ GRCh38/hg38 18q21.1(chr18:47031778-47042531)x3 http://identifiers.org/clinvar/150787 ^@ GRCh38/hg38 19p12(chr19:23442005-23685592)x1 http://identifiers.org/clinvar/150788 ^@ GRCh38/hg38 7p22.1(chr7:4922492-5112002)x3 http://identifiers.org/clinvar/150789 ^@ GRCh38/hg38 4q35.2(chr4:188915466-189792445)x3 http://identifiers.org/clinvar/150790 ^@ GRCh38/hg38 8p23.3(chr8:597183-820092)x3 http://identifiers.org/clinvar/150791 ^@ GRCh38/hg38 10q26.3(chr10:133440549-133563886)x1 http://identifiers.org/clinvar/150794 ^@ GRCh38/hg38 8p23.1(chr8:10379998-10970694)x3 http://identifiers.org/clinvar/150795 ^@ GRCh38/hg38 17q23.3(chr17:63648253-63855879)x3 http://identifiers.org/clinvar/150796 ^@ GRCh38/hg38 Xp22.31(chrX:6534654-8529736)x3 http://identifiers.org/clinvar/150800 ^@ GRCh38/hg38 1p12(chr1:119146352-119480599)x3 http://identifiers.org/clinvar/150801 ^@ GRCh38/hg38 Yp11.2(chrY:6522413-7456335)x2 http://identifiers.org/clinvar/150802 ^@ GRCh38/hg38 Xq21.31(chrX:89257467-89379105)x2 http://identifiers.org/clinvar/150806 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 http://identifiers.org/clinvar/150807 ^@ GRCh38/hg38 13q32.3(chr13:99985302-99986409)x3 http://identifiers.org/clinvar/150808 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3 http://identifiers.org/clinvar/150809 ^@ GRCh38/hg38 13q32.3(chr13:99985302-99986107)x3 http://identifiers.org/clinvar/150810 ^@ GRCh38/hg38 14q11.2(chr14:21919182-22398359)x3 http://identifiers.org/clinvar/150812 ^@ GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3 http://identifiers.org/clinvar/150815 ^@ GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3 http://identifiers.org/clinvar/150816 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1 http://identifiers.org/clinvar/150817 ^@ GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1 http://identifiers.org/clinvar/150818 ^@ GRCh38/hg38 1p36.21(chr1:13686050-14463844)x3 http://identifiers.org/clinvar/150819 ^@ GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 http://identifiers.org/clinvar/150821 ^@ GRCh38/hg38 13q21.1(chr13:56657784-57513937)x3 http://identifiers.org/clinvar/150822 ^@ GRCh38/hg38 1q31.3-32.1(chr1:198655911-198899227)x1 http://identifiers.org/clinvar/150823 ^@ GRCh38/hg38 20p13-12.3(chr20:4926195-5543771)x3 http://identifiers.org/clinvar/150826 ^@ GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 http://identifiers.org/clinvar/150827 ^@ GRCh38/hg38 16q24.2(chr16:87597944-87682294)x1 http://identifiers.org/clinvar/150828 ^@ GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3 http://identifiers.org/clinvar/150829 ^@ GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 http://identifiers.org/clinvar/150833 ^@ GRCh38/hg38 1q25.3(chr1:184686232-184933141)x1 http://identifiers.org/clinvar/150834 ^@ GRCh38/hg38 7q33(chr7:133709960-133963963)x1 http://identifiers.org/clinvar/150835 ^@ GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 http://identifiers.org/clinvar/150836 ^@ GRCh38/hg38 7q36.3(chr7:158961114-159332774)x3 http://identifiers.org/clinvar/150837 ^@ GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0 http://identifiers.org/clinvar/150838 ^@ GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 http://identifiers.org/clinvar/150840 ^@ GRCh38/hg38 5p14.2-14.1(chr5:23758689-26287240)x1 http://identifiers.org/clinvar/150841 ^@ GRCh38/hg38 2p21(chr2:44437294-44688253)x1 http://identifiers.org/clinvar/150844 ^@ GRCh38/hg38 4q35.2(chr4:189106871-190095391)x1 http://identifiers.org/clinvar/150845 ^@ GRCh38/hg38 1q31.3(chr1:194260752-196604554)x1 http://identifiers.org/clinvar/150847 ^@ GRCh38/hg38 10p12.31(chr10:20964970-22049554)x3 http://identifiers.org/clinvar/150848 ^@ GRCh38/hg38 10p12.1(chr10:27729990-28399765)x4 http://identifiers.org/clinvar/150849 ^@ GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 http://identifiers.org/clinvar/150851 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 http://identifiers.org/clinvar/150852 ^@ GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1 http://identifiers.org/clinvar/150853 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1 http://identifiers.org/clinvar/150855 ^@ GRCh38/hg38 3p24.3(chr3:17573510-18695830)x1 http://identifiers.org/clinvar/150856 ^@ GRCh38/hg38 18q23(chr18:77228705-77602155)x1 http://identifiers.org/clinvar/150857 ^@ GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1 http://identifiers.org/clinvar/150858 ^@ GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 http://identifiers.org/clinvar/150859 ^@ GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 http://identifiers.org/clinvar/150860 ^@ GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 http://identifiers.org/clinvar/150862 ^@ GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 http://identifiers.org/clinvar/150863 ^@ GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3 http://identifiers.org/clinvar/150864 ^@ GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 http://identifiers.org/clinvar/150865 ^@ GRCh38/hg38 Xp11.3(chrX:46464096-47419599)x2 http://identifiers.org/clinvar/150866 ^@ GRCh38/hg38 22p11.2-q11.1(chr22:10874347-15903760)x4 http://identifiers.org/clinvar/150867 ^@ GRCh38/hg38 1p36.13(chr1:16761885-16797286)x3 http://identifiers.org/clinvar/150868 ^@ GRCh38/hg38 7q35(chr7:146884454-146966144)x3 http://identifiers.org/clinvar/150869 ^@ GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3 http://identifiers.org/clinvar/150870 ^@ GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1 http://identifiers.org/clinvar/150871 ^@ GRCh38/hg38 7p21.3(chr7:7815001-8767755)x3 http://identifiers.org/clinvar/150872 ^@ GRCh38/hg38 Xp22.33(chrX:833598-850063)x0 http://identifiers.org/clinvar/150873 ^@ GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 http://identifiers.org/clinvar/150874 ^@ GRCh38/hg38 16q24.3(chr16:89975178-89996680)x1 http://identifiers.org/clinvar/150875 ^@ GRCh38/hg38 11q14.1(chr11:84446955-84708445)x1 http://identifiers.org/clinvar/150876 ^@ GRCh38/hg38 18q23(chr18:80229728-80254936)x3 http://identifiers.org/clinvar/150877 ^@ GRCh38/hg38 12p13.31(chr12:9484719-9667557)x1 http://identifiers.org/clinvar/150878 ^@ GRCh37/hg19 17q12(chr17:34431767-34775684)x3 http://identifiers.org/clinvar/150879 ^@ GRCh38/hg38 9q21.11(chr9:67402774-67527917)x3 http://identifiers.org/clinvar/150880 ^@ GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3 http://identifiers.org/clinvar/150881 ^@ GRCh38/hg38 Xp11.23(chrX:49316774-49343053)x2 http://identifiers.org/clinvar/150882 ^@ GRCh38/hg38 11q14.3(chr11:89727372-89972044)x3 http://identifiers.org/clinvar/150883 ^@ GRCh38/hg38 2p25.3(chr2:75742-210454)x1 http://identifiers.org/clinvar/150884 ^@ GRCh38/hg38 13q14.3-21.1(chr13:54447999-54859097)x1 http://identifiers.org/clinvar/150885 ^@ GRCh38/hg38 5p15.33(chr5:22149-176291)x1 http://identifiers.org/clinvar/150886 ^@ GRCh38/hg38 4p11(chr4:49278928-49516111)x1 http://identifiers.org/clinvar/150887 ^@ GRCh38/hg38 8p23.1(chr8:7205665-7948701)x3 http://identifiers.org/clinvar/150888 ^@ GRCh38/hg38 8p23.1(chr8:12127758-12182469)x3 http://identifiers.org/clinvar/150889 ^@ GRCh38/hg38 17q12(chr17:38051428-38198743)x3 http://identifiers.org/clinvar/150890 ^@ GRCh38/hg38 Yq11.223(chrY:22662513-23140819)x2 http://identifiers.org/clinvar/150891 ^@ GRCh38/hg38 3q29(chr3:197304351-197597696)x3 http://identifiers.org/clinvar/150892 ^@ GRCh38/hg38 Xp11.22(chrX:52825019-52862917)x3 http://identifiers.org/clinvar/150893 ^@ GRCh38/hg38 1p36.13(chr1:16600450-16856300)x3 http://identifiers.org/clinvar/150894 ^@ GRCh38/hg38 Xq21.31(chrX:89771360-89907892)x3 http://identifiers.org/clinvar/150895 ^@ GRCh38/hg38 7q34(chr7:142749675-142830927)x1 http://identifiers.org/clinvar/150896 ^@ GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3 http://identifiers.org/clinvar/150897 ^@ GRCh38/hg38 7q35(chr7:143560417-143850841)x1 http://identifiers.org/clinvar/150898 ^@ GRCh38/hg38 19p12(chr19:21837355-21919112)x1 http://identifiers.org/clinvar/150899 ^@ GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3 http://identifiers.org/clinvar/150900 ^@ GRCh38/hg38 12p13.31(chr12:7832894-7965604)x3 http://identifiers.org/clinvar/150901 ^@ GRCh38/hg38 2p12(chr2:77820412-78374887)x1 http://identifiers.org/clinvar/150902 ^@ GRCh38/hg38 17q22(chr17:52491712-52779058)x1 http://identifiers.org/clinvar/150903 ^@ GRCh38/hg38 6q11.1(chr6:61119913-61217827)x3 http://identifiers.org/clinvar/150904 ^@ GRCh38/hg38 8q21.2(chr8:85646483-85769922)x3 http://identifiers.org/clinvar/150905 ^@ GRCh38/hg38 21q22.3(chr21:46416432-46568690)x3 http://identifiers.org/clinvar/150906 ^@ GRCh38/hg38 Xp11.23(chrX:49293350-49343053)x2 http://identifiers.org/clinvar/150910 ^@ GRCh38/hg38 18q23(chr18:77255292-77261796)x1 http://identifiers.org/clinvar/150911 ^@ GRCh38/hg38 11q25(chr11:133493310-133745240)x3 http://identifiers.org/clinvar/150912 ^@ GRCh38/hg38 17q21.31(chr17:46322082-46685236)x1 http://identifiers.org/clinvar/150913 ^@ GRCh38/hg38 Xq22.2(chrX:103772099-104048812)x3 http://identifiers.org/clinvar/150914 ^@ GRCh38/hg38 10q21.1(chr10:58148435-58483261)x1 http://identifiers.org/clinvar/150916 ^@ GRCh38/hg38 7q34(chr7:142620632-142753076)x1 http://identifiers.org/clinvar/150917 ^@ GRCh38/hg38 8p11.1(chr8:43672746-43686841)x1 http://identifiers.org/clinvar/150918 ^@ GRCh38/hg38 9p23(chr9:12074177-12424254)x1 http://identifiers.org/clinvar/150920 ^@ GRCh38/hg38 9q31.1(chr9:102895857-103106118)x1 http://identifiers.org/clinvar/150922 ^@ GRCh38/hg38 6q27(chr6:168861627-169441437)x3 http://identifiers.org/clinvar/150923 ^@ GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1 http://identifiers.org/clinvar/150924 ^@ GRCh38/hg38 7q33(chr7:133303807-133680784)x1 http://identifiers.org/clinvar/150925 ^@ GRCh38/hg38 16p13.3(chr16:6762261-6936370)x1 http://identifiers.org/clinvar/150926 ^@ GRCh38/hg38 Xp21.2(chrX:30303940-30322946)x2 http://identifiers.org/clinvar/150927 ^@ GRCh38/hg38 7q21.13(chr7:90759285-90939487)x1 http://identifiers.org/clinvar/150928 ^@ GRCh38/hg38 7q11.21(chr7:65017875-65835330)x1 http://identifiers.org/clinvar/150929 ^@ GRCh38/hg38 8p22-21.3(chr8:18727799-19351154)x3 http://identifiers.org/clinvar/150930 ^@ GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1 http://identifiers.org/clinvar/150931 ^@ GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1 http://identifiers.org/clinvar/150932 ^@ GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 http://identifiers.org/clinvar/150933 ^@ GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3 http://identifiers.org/clinvar/150934 ^@ GRCh38/hg38 4q31.3(chr4:152519348-153381536)x1 http://identifiers.org/clinvar/150935 ^@ GRCh38/hg38 14q32.33(chr14:106329896-106879298)x1 http://identifiers.org/clinvar/150937 ^@ GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 http://identifiers.org/clinvar/150938 ^@ GRCh38/hg38 15q11.2(chr15:24259331-24531137)x3 http://identifiers.org/clinvar/150939 ^@ GRCh38/hg38 4q35.1(chr4:183630250-183939902)x3 http://identifiers.org/clinvar/150940 ^@ GRCh38/hg38 1q21.1(chr1:143545534-143749316)x3 http://identifiers.org/clinvar/150941 ^@ GRCh38/hg38 16p12.2(chr16:22575202-22634466)x3 http://identifiers.org/clinvar/150942 ^@ GRCh38/hg38 15q11.2(chr15:20627866-22308242)x3 http://identifiers.org/clinvar/150943 ^@ GRCh38/hg38 Xq21.32(chrX:93260274-93819899)x2 http://identifiers.org/clinvar/150944 ^@ GRCh38/hg38 Xp11.23(chrX:48476537-48477781)x3 http://identifiers.org/clinvar/150947 ^@ GRCh38/hg38 22q11.21(chr22:19758692-19760415)x3 http://identifiers.org/clinvar/150948 ^@ GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 http://identifiers.org/clinvar/150949 ^@ GRCh38/hg38 7p22.2(chr7:3978187-4334459)x3 http://identifiers.org/clinvar/150950 ^@ GRCh38/hg38 7q34(chr7:142752258-142752607)x1 http://identifiers.org/clinvar/150951 ^@ GRCh38/hg38 5q13.2(chr5:70951942-71291192)x1 http://identifiers.org/clinvar/150952 ^@ GRCh38/hg38 5p15.2(chr5:12310726-12929315)x1 http://identifiers.org/clinvar/150953 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 http://identifiers.org/clinvar/150954 ^@ GRCh38/hg38 18p11.22(chr18:9995522-10109337)x3 http://identifiers.org/clinvar/150955 ^@ GRCh38/hg38 Xq21.33(chrX:94587874-94763583)x0 http://identifiers.org/clinvar/150956 ^@ GRCh38/hg38 3p26.3(chr3:244643-270432)x1 http://identifiers.org/clinvar/150957 ^@ GRCh38/hg38 14q32.33(chr14:106689633-106781642)x3 http://identifiers.org/clinvar/150958 ^@ GRCh38/hg38 13q12.11(chr13:19845210-19871196)x3 http://identifiers.org/clinvar/150959 ^@ GRCh38/hg38 14q32.33(chr14:106056681-106467748)x3 http://identifiers.org/clinvar/150960 ^@ GRCh38/hg38 16p13.3(chr16:6826836-6901129)x1 http://identifiers.org/clinvar/150961 ^@ GRCh38/hg38 18q21.2(chr18:53759141-53959887)x1 http://identifiers.org/clinvar/150963 ^@ GRCh38/hg38 7q11.23(chr7:75331937-75352753)x3 http://identifiers.org/clinvar/150964 ^@ GRCh38/hg38 9q21.11(chr9:67402774-67548924)x3 http://identifiers.org/clinvar/150965 ^@ GRCh38/hg38 9p13.1(chr9:38791717-38951379)x3 http://identifiers.org/clinvar/150966 ^@ GRCh38/hg38 16q11.2(chr16:46466703-46571147)x1 http://identifiers.org/clinvar/150967 ^@ GRCh38/hg38 7p14.1-13(chr7:42452844-43608265)x3 http://identifiers.org/clinvar/150968 ^@ GRCh38/hg38 14q32.2(chr14:100725840-100727926)x1 http://identifiers.org/clinvar/150969 ^@ GRCh38/hg38 20q13.33(chr20:62939140-63198970)x3 http://identifiers.org/clinvar/150973 ^@ GRCh38/hg38 17q25.3(chr17:82959804-82970085)x1 http://identifiers.org/clinvar/150974 ^@ GRCh38/hg38 7q35(chr7:143735880-144155736)x3 http://identifiers.org/clinvar/150975 ^@ GRCh38/hg38 14q13.3(chr14:36484306-36677450)x3 http://identifiers.org/clinvar/150976 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 http://identifiers.org/clinvar/150977 ^@ GRCh38/hg38 9p23(chr9:10786005-11277779)x1 http://identifiers.org/clinvar/150978 ^@ GRCh38/hg38 20p13(chr20:295139-500987)x1 http://identifiers.org/clinvar/150980 ^@ GRCh38/hg38 16p13.3(chr16:6839301-6901129)x1 http://identifiers.org/clinvar/150981 ^@ GRCh38/hg38 Xq28(chrX:154890313-155331062)x1 http://identifiers.org/clinvar/150982 ^@ GRCh38/hg38 12p13.33(chr12:121271-156659)x3 http://identifiers.org/clinvar/150983 ^@ GRCh38/hg38 7q36.3(chr7:159049139-159265346)x3 http://identifiers.org/clinvar/150984 ^@ GRCh38/hg38 4q13.2-13.3(chr4:69148377-69464746)x1 http://identifiers.org/clinvar/150985 ^@ GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 http://identifiers.org/clinvar/150986 ^@ GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 http://identifiers.org/clinvar/150987 ^@ GRCh38/hg38 13q34(chr13:114272614-114298614)x1 http://identifiers.org/clinvar/150988 ^@ GRCh38/hg38 2p24.1(chr2:22377169-22568871)x1 http://identifiers.org/clinvar/150989 ^@ GRCh38/hg38 19p13.3(chr19:3020573-3482611)x3 http://identifiers.org/clinvar/150990 ^@ GRCh38/hg38 10q22.3(chr10:77614550-77851809)x3 http://identifiers.org/clinvar/150992 ^@ GRCh38/hg38 16p13.3(chr16:6644163-6769660)x1 http://identifiers.org/clinvar/150993 ^@ GRCh38/hg38 9q21.13(chr9:72430984-72661712)x1 http://identifiers.org/clinvar/150995 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 http://identifiers.org/clinvar/150998 ^@ GRCh38/hg38 8q11.23(chr8:52387348-52986011)x3 http://identifiers.org/clinvar/150999 ^@ GRCh38/hg38 6q13(chr6:70252200-70891985)x3 http://identifiers.org/clinvar/151000 ^@ GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1 http://identifiers.org/clinvar/151002 ^@ GRCh38/hg38 Xq23(chrX:112652226-112920773)x0 http://identifiers.org/clinvar/151004 ^@ GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 http://identifiers.org/clinvar/151006 ^@ GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 http://identifiers.org/clinvar/151008 ^@ GRCh38/hg38 6q21(chr6:109563992-109661172)x1 http://identifiers.org/clinvar/151009 ^@ GRCh38/hg38 11p11.2(chr11:44146437-44175772)x3 http://identifiers.org/clinvar/151010 ^@ GRCh38/hg38 8p23.1(chr8:8253505-9758024)x1 http://identifiers.org/clinvar/151012 ^@ GRCh38/hg38 20p12.3(chr20:7137090-8095330)x3 http://identifiers.org/clinvar/151013 ^@ GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3 http://identifiers.org/clinvar/151014 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 http://identifiers.org/clinvar/151015 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1 http://identifiers.org/clinvar/151018 ^@ GRCh38/hg38 6q25.2(chr6:153921611-154560027)x3 http://identifiers.org/clinvar/151022 ^@ GRCh38/hg38 22q12.1(chr22:26535859-27296063)x1 http://identifiers.org/clinvar/151023 ^@ GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1 http://identifiers.org/clinvar/151024 ^@ GRCh38/hg38 3q26.31-26.32(chr3:175435248-176052517)x1 http://identifiers.org/clinvar/151025 ^@ GRCh38/hg38 Xq21.33(chrX:95513076-96032824)x0 http://identifiers.org/clinvar/151026 ^@ GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 http://identifiers.org/clinvar/151030 ^@ GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3 http://identifiers.org/clinvar/151031 ^@ GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 http://identifiers.org/clinvar/151032 ^@ GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 http://identifiers.org/clinvar/151033 ^@ GRCh38/hg38 15q26.1(chr15:92900864-93043584)x1 http://identifiers.org/clinvar/151034 ^@ GRCh38/hg38 Xp11.23(chrX:48476762-48477781)x2 http://identifiers.org/clinvar/151035 ^@ GRCh38/hg38 20p13(chr20:102451-458699)x3 http://identifiers.org/clinvar/151036 ^@ GRCh38/hg38 20p13(chr20:364204-879317)x3 http://identifiers.org/clinvar/151037 ^@ GRCh38/hg38 5q12.3(chr5:65162063-65680676)x3 http://identifiers.org/clinvar/151038 ^@ GRCh38/hg38 2q12.1(chr2:103897882-104834336)x1 http://identifiers.org/clinvar/151039 ^@ GRCh38/hg38 5q13.2(chr5:69942862-70629488)x3 http://identifiers.org/clinvar/151040 ^@ GRCh38/hg38 8p23.1(chr8:7546074-8222390)x3 http://identifiers.org/clinvar/151041 ^@ GRCh38/hg38 21q21.2(chr21:23492687-23931149)x3 http://identifiers.org/clinvar/151042 ^@ GRCh38/hg38 Xq27.1(chrX:139830461-140201336)x3 http://identifiers.org/clinvar/151043 ^@ GRCh38/hg38 8q24.21(chr8:126533658-126716129)x3 http://identifiers.org/clinvar/151044 ^@ GRCh38/hg38 12q21.33(chr12:89366714-89530151)x1 http://identifiers.org/clinvar/151045 ^@ GRCh38/hg38 Xq28(chrX:155622472-155763377)x3 http://identifiers.org/clinvar/151046 ^@ GRCh38/hg38 15q13.3(chr15:31772780-32137829)x3 http://identifiers.org/clinvar/151047 ^@ GRCh38/hg38 15q14(chr15:34402939-34671997)x3 http://identifiers.org/clinvar/151048 ^@ GRCh38/hg38 6q16.1(chr6:94593818-94815786)x1 http://identifiers.org/clinvar/151049 ^@ GRCh38/hg38 14q12(chr14:27144480-27478917)x1 http://identifiers.org/clinvar/151050 ^@ GRCh38/hg38 2p25.3(chr2:78766-210454)x1 http://identifiers.org/clinvar/151051 ^@ GRCh38/hg38 16p13.3(chr16:6839301-6914112)x1 http://identifiers.org/clinvar/151052 ^@ GRCh38/hg38 7p22.3(chr7:176560-186200)x1 http://identifiers.org/clinvar/151056 ^@ GRCh38/hg38 Xq23(chrX:111797433-113018368)x8 http://identifiers.org/clinvar/151057 ^@ GRCh38/hg38 7p11.2(chr7:54585522-55139482)x3 http://identifiers.org/clinvar/151058 ^@ GRCh38/hg38 Xp22.33(chrX:658352-662562)x3 http://identifiers.org/clinvar/151059 ^@ GRCh38/hg38 21q22.13(chr21:37364925-37368772)x3 http://identifiers.org/clinvar/151061 ^@ GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3 http://identifiers.org/clinvar/151062 ^@ GRCh38/hg38 6q24.2(chr6:144418941-144485393)x3 http://identifiers.org/clinvar/151063 ^@ GRCh38/hg38 13q34(chr13:113321284-113352000)x1 http://identifiers.org/clinvar/151064 ^@ GRCh38/hg38 1p35.3(chr1:28386723-28416172)x4 http://identifiers.org/clinvar/151065 ^@ GRCh38/hg38 22q13.32(chr22:48500344-48654672)x3 http://identifiers.org/clinvar/151066 ^@ GRCh38/hg38 14q23.1(chr14:61139770-61309705)x1 http://identifiers.org/clinvar/151068 ^@ GRCh38/hg38 4p16.3(chr4:2980310-3013821)x1 http://identifiers.org/clinvar/151069 ^@ GRCh38/hg38 4q13.3(chr4:74173208-74240861)x1 http://identifiers.org/clinvar/151070 ^@ GRCh38/hg38 5q13.1(chr5:68319663-68479180)x3 http://identifiers.org/clinvar/151071 ^@ GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1 http://identifiers.org/clinvar/151072 ^@ GRCh38/hg38 12q24.23(chr12:120251893-120291691)x3 http://identifiers.org/clinvar/151073 ^@ GRCh38/hg38 11q22.1(chr11:99543142-99600896)x1 http://identifiers.org/clinvar/151074 ^@ GRCh38/hg38 1p36.13(chr1:18747325-18894083)x3 http://identifiers.org/clinvar/151075 ^@ GRCh38/hg38 2p21(chr2:43268121-43301302)x1 http://identifiers.org/clinvar/151076 ^@ GRCh38/hg38 3q11.2-12.1(chr3:98567691-98609411)x3 http://identifiers.org/clinvar/151077 ^@ GRCh38/hg38 2p16.3(chr2:47813079-47894079)x1 http://identifiers.org/clinvar/151078 ^@ GRCh38/hg38 8q24.3(chr8:142809777-142910556)x3 http://identifiers.org/clinvar/151079 ^@ GRCh38/hg38 6q21(chr6:108531375-108589781)x1 http://identifiers.org/clinvar/151080 ^@ GRCh38/hg38 7p22.1(chr7:5905831-5925893)x3 http://identifiers.org/clinvar/151081 ^@ GRCh38/hg38 20q13.2(chr20:52024118-52183781)x3 http://identifiers.org/clinvar/151082 ^@ GRCh38/hg38 4p14(chr4:39966405-40097540)x3 http://identifiers.org/clinvar/151083 ^@ GRCh38/hg38 2q32.2(chr2:190683978-190768165)x3 http://identifiers.org/clinvar/151084 ^@ GRCh38/hg38 7q21.12(chr7:87418490-87492600)x3 http://identifiers.org/clinvar/151085 ^@ GRCh38/hg38 17p13.3(chr17:1078810-1170736)x1 http://identifiers.org/clinvar/151086 ^@ GRCh38/hg38 12q12(chr12:43534791-43622385)x1 http://identifiers.org/clinvar/151087 ^@ GRCh38/hg38 5q21.1(chr5:100746003-100793223)x1 http://identifiers.org/clinvar/151088 ^@ GRCh38/hg38 18p11.31(chr18:3512429-3589752)x3 http://identifiers.org/clinvar/151089 ^@ GRCh38/hg38 5p15.33(chr5:1495239-1528618)x1 http://identifiers.org/clinvar/151090 ^@ GRCh38/hg38 4p16.3(chr4:2961708-3013821)x3 http://identifiers.org/clinvar/151091 ^@ GRCh38/hg38 7q21.11-21.12(chr7:85213685-87058277)x1 http://identifiers.org/clinvar/151092 ^@ GRCh38/hg38 2p25.3(chr2:1007275-1205941)x3 http://identifiers.org/clinvar/151093 ^@ GRCh38/hg38 7p22.3(chr7:2469943-2566182)x3 http://identifiers.org/clinvar/151094 ^@ GRCh38/hg38 21q22.3(chr21:41647888-41702859)x3 http://identifiers.org/clinvar/151095 ^@ GRCh38/hg38 22q13.33(chr22:50642219-50780522)x3 http://identifiers.org/clinvar/151096 ^@ GRCh38/hg38 18q12.1(chr18:32072818-32156568)x1 http://identifiers.org/clinvar/151097 ^@ GRCh38/hg38 2q24.2(chr2:159064347-159108014)x3 http://identifiers.org/clinvar/151098 ^@ GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1 http://identifiers.org/clinvar/151101 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48955243-49606942)x3 http://identifiers.org/clinvar/151103 ^@ GRCh38/hg38 Xp11.21-11.1(chrX:57646513-58517661)x3 http://identifiers.org/clinvar/151105 ^@ GRCh38/hg38 1q42.2(chr1:232404562-233269974)x3 http://identifiers.org/clinvar/151106 ^@ GRCh38/hg38 10q26.2(chr10:127257925-127873894)x3 http://identifiers.org/clinvar/151108 ^@ GRCh38/hg38 12q14.1(chr12:59042021-60965796)x1 http://identifiers.org/clinvar/151109 ^@ GRCh38/hg38 19q11(chr19:27362299-28078950)x3 http://identifiers.org/clinvar/151110 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1 http://identifiers.org/clinvar/151113 ^@ GRCh38/hg38 16q23.1(chr16:74113565-74322812)x1 http://identifiers.org/clinvar/151114 ^@ GRCh38/hg38 12p13.33(chr12:1160947-1364162)x1 http://identifiers.org/clinvar/151116 ^@ GRCh38/hg38 13q31.2(chr13:87179407-87491337)x1 http://identifiers.org/clinvar/151118 ^@ GRCh38/hg38 2q21.1-21.2(chr2:131409034-131940119)x1 http://identifiers.org/clinvar/151120 ^@ GRCh38/hg38 Xp22.33(chrX:1085618-1223133)x1 http://identifiers.org/clinvar/151121 ^@ GRCh38/hg38 16q24.3(chr16:89079074-89287677)x3 http://identifiers.org/clinvar/151123 ^@ GRCh38/hg38 6p11.2-q11.1(chr6:57436696-60420111)x3 http://identifiers.org/clinvar/151124 ^@ GRCh38/hg38 4q35.2(chr4:188150588-188688146)x3 http://identifiers.org/clinvar/151125 ^@ GRCh38/hg38 Xp22.33(chrX:1027415-1702424)x3 http://identifiers.org/clinvar/151127 ^@ GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3 http://identifiers.org/clinvar/151128 ^@ GRCh38/hg38 Xq21.1(chrX:82776908-83861442)x2 http://identifiers.org/clinvar/151130 ^@ GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 http://identifiers.org/clinvar/151131 ^@ GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 http://identifiers.org/clinvar/151132 ^@ GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1 http://identifiers.org/clinvar/151133 ^@ GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 http://identifiers.org/clinvar/151140 ^@ GRCh38/hg38 8q11.21(chr8:47831768-48178799)x1 http://identifiers.org/clinvar/151143 ^@ GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 http://identifiers.org/clinvar/151144 ^@ GRCh38/hg38 18q12.1(chr18:29365057-31236305)x1 http://identifiers.org/clinvar/151145 ^@ GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1 http://identifiers.org/clinvar/151149 ^@ GRCh38/hg38 12q24.32-24.33(chr12:128487318-129325819)x3 http://identifiers.org/clinvar/151150 ^@ GRCh38/hg38 15q13.3(chr15:31719255-32147323)x3 http://identifiers.org/clinvar/151153 ^@ GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3 http://identifiers.org/clinvar/151155 ^@ GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4 http://identifiers.org/clinvar/151156 ^@ GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1 http://identifiers.org/clinvar/151158 ^@ GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1 http://identifiers.org/clinvar/151159 ^@ GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 http://identifiers.org/clinvar/151160 ^@ GRCh38/hg38 2p16.3(chr2:50584029-50642926)x1 http://identifiers.org/clinvar/151161 ^@ GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1 http://identifiers.org/clinvar/151162 ^@ GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 http://identifiers.org/clinvar/151164 ^@ GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 http://identifiers.org/clinvar/151165 ^@ GRCh38/hg38 5p15.33(chr5:22149-3619159) http://identifiers.org/clinvar/151167 ^@ GRCh38/hg38 19p12(chr19:23427660-23950272)x3 http://identifiers.org/clinvar/151168 ^@ GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3 http://identifiers.org/clinvar/151169 ^@ GRCh38/hg38 10q21.3(chr10:66557571-66771907)x1 http://identifiers.org/clinvar/151171 ^@ GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3 http://identifiers.org/clinvar/151173 ^@ GRCh38/hg38 2p16.3(chr2:50931103-50960020)x1 http://identifiers.org/clinvar/151176 ^@ GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1 http://identifiers.org/clinvar/151177 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 http://identifiers.org/clinvar/151178 ^@ GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1 http://identifiers.org/clinvar/151181 ^@ GRCh38/hg38 15q22.31(chr15:64671902-65034346)x1 http://identifiers.org/clinvar/151183 ^@ GRCh38/hg38 16p12.2(chr16:21790568-22699293)x1 http://identifiers.org/clinvar/151185 ^@ GRCh38/hg38 18q22.3(chr18:72507524-72965497)x1 http://identifiers.org/clinvar/151186 ^@ GRCh38/hg38 1p31.3(chr1:63873863-64333572)x1 http://identifiers.org/clinvar/151189 ^@ GRCh38/hg38 16p13.3(chr16:2116320-2140896)x3 http://identifiers.org/clinvar/151190 ^@ GRCh38/hg38 22q13.32(chr22:48500344-49037170)x3 http://identifiers.org/clinvar/151191 ^@ GRCh38/hg38 8p12(chr8:30368765-36421541)x3 http://identifiers.org/clinvar/151192 ^@ GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3 http://identifiers.org/clinvar/151193 ^@ GRCh38/hg38 16p13.3(chr16:6669535-6857206)x1 http://identifiers.org/clinvar/151194 ^@ GRCh38/hg38 Xq28(chrX:153688340-153697340)x2 http://identifiers.org/clinvar/151195 ^@ GRCh38/hg38 Xp11.3(chrX:43955151-43977457)x2 http://identifiers.org/clinvar/151196 ^@ GRCh38/hg38 3p26.3(chr3:2370870-2598145)x1 http://identifiers.org/clinvar/151197 ^@ GRCh38/hg38 15q11.2(chr15:22658112-23102647)x1 http://identifiers.org/clinvar/151199 ^@ GRCh38/hg38 17p11.2(chr17:22159041-22672350)x1 http://identifiers.org/clinvar/151200 ^@ GRCh38/hg38 9q34.3(chr9:137764592-137790980)x3 http://identifiers.org/clinvar/151201 ^@ GRCh38/hg38 7q21.13(chr7:89467226-90255387)x3 http://identifiers.org/clinvar/151206 ^@ GRCh38/hg38 6q11.1(chr6:61468685-62203076)x4 http://identifiers.org/clinvar/151207 ^@ GRCh38/hg38 1q24.2(chr1:168480792-168743193)x1 http://identifiers.org/clinvar/151208 ^@ GRCh38/hg38 18q21.33-22.1(chr18:63144445-64588458)x3 http://identifiers.org/clinvar/151210 ^@ GRCh38/hg38 Yq11.223(chrY:22070733-22624738)x0 http://identifiers.org/clinvar/151213 ^@ GRCh38/hg38 4p16.3(chr4:72555-690085)x1 http://identifiers.org/clinvar/151214 ^@ GRCh38/hg38 Yq11.221-12(chrY:16311571-57190586)x0 http://identifiers.org/clinvar/151215 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 http://identifiers.org/clinvar/151217 ^@ GRCh38/hg38 15q25.3(chr15:84968749-85123019)x3 http://identifiers.org/clinvar/151218 ^@ GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 http://identifiers.org/clinvar/151219 ^@ GRCh38/hg38 15q26.1-26.2(chr15:93742519-93986332)x3 http://identifiers.org/clinvar/151220 ^@ GRCh38/hg38 15q25.2(chr15:82127892-82258878)x3 http://identifiers.org/clinvar/151221 ^@ GRCh38/hg38 15q24.1(chr15:74724230-74756760)x1 http://identifiers.org/clinvar/151222 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 http://identifiers.org/clinvar/151223 ^@ GRCh38/hg38 14q24.2(chr14:71696770-71749145)x3 http://identifiers.org/clinvar/151224 ^@ GRCh38/hg38 14q32.33(chr14:104338442-104447532)x3 http://identifiers.org/clinvar/151225 ^@ GRCh38/hg38 14q21.1(chr14:39966920-40122547)x1 http://identifiers.org/clinvar/151226 ^@ GRCh38/hg38 14q22.1(chr14:50689616-50793614)x3 http://identifiers.org/clinvar/151227 ^@ GRCh38/hg38 14q11.2(chr14:20499771-20511908)x3 http://identifiers.org/clinvar/151228 ^@ GRCh38/hg38 14q11.2(chr14:20503116-20508997)x3 http://identifiers.org/clinvar/151229 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 http://identifiers.org/clinvar/151231 ^@ GRCh38/hg38 14q12(chr14:32118959-32146527)x1 http://identifiers.org/clinvar/151232 ^@ GRCh38/hg38 14q11.2(chr14:20503116-20511908)x3 http://identifiers.org/clinvar/151233 ^@ GRCh38/hg38 14q32.33(chr14:105471248-105491009)x3 http://identifiers.org/clinvar/151234 ^@ GRCh38/hg38 14q11.2(chr14:20223236-20248615)x3 http://identifiers.org/clinvar/151235 ^@ GRCh38/hg38 14q13.1(chr14:34211771-34328059)x1 http://identifiers.org/clinvar/151236 ^@ GRCh38/hg38 14q24.2(chr14:72557579-72709419)x3 http://identifiers.org/clinvar/151238 ^@ GRCh38/hg38 14q24.3(chr14:75398690-75425417)x3 http://identifiers.org/clinvar/151239 ^@ GRCh38/hg38 14q32.11(chr14:89840367-89986509)x1 http://identifiers.org/clinvar/151240 ^@ GRCh38/hg38 14q13.2(chr14:35068276-35231604)x3 http://identifiers.org/clinvar/151241 ^@ GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1 http://identifiers.org/clinvar/151242 ^@ GRCh38/hg38 13q21.33(chr13:68935249-69041580)x3 http://identifiers.org/clinvar/151243 ^@ GRCh38/hg38 13q14.13(chr13:45690029-45772711)x3 http://identifiers.org/clinvar/151244 ^@ GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3 http://identifiers.org/clinvar/151245 ^@ GRCh38/hg38 13q31.1(chr13:80587063-80843600)x1 http://identifiers.org/clinvar/151246 ^@ GRCh38/hg38 13q31.3(chr13:93689856-93770897)x3 http://identifiers.org/clinvar/151247 ^@ GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3 http://identifiers.org/clinvar/151248 ^@ GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1 http://identifiers.org/clinvar/151249 ^@ GRCh38/hg38 13q33.3(chr13:107376723-107502618)x1 http://identifiers.org/clinvar/151250 ^@ GRCh38/hg38 13q12.11(chr13:19818088-19947849)x3 http://identifiers.org/clinvar/151251 ^@ GRCh38/hg38 13q34(chr13:113998375-114044871)x3 http://identifiers.org/clinvar/151252 ^@ GRCh38/hg38 13q12.12(chr13:22943845-23045243)x4 http://identifiers.org/clinvar/151253 ^@ GRCh38/hg38 13q14.11(chr13:42943008-43219325)x3 http://identifiers.org/clinvar/151254 ^@ GRCh38/hg38 11p15.4(chr11:3526586-3624080)x3 http://identifiers.org/clinvar/151255 ^@ GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 http://identifiers.org/clinvar/151256 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 http://identifiers.org/clinvar/151257 ^@ GRCh38/hg38 12q12(chr12:39934307-39976881)x1 http://identifiers.org/clinvar/151258 ^@ GRCh38/hg38 11q22.3(chr11:107656034-107998014)x3 http://identifiers.org/clinvar/151259 ^@ GRCh38/hg38 11q22.3(chr11:104450471-104535171)x3 http://identifiers.org/clinvar/151260 ^@ GRCh38/hg38 Xp22.33(chrX:391851-635473)x3 http://identifiers.org/clinvar/151261 ^@ GRCh38/hg38 11q13.2(chr11:67806872-67875746)x3 http://identifiers.org/clinvar/151262 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 http://identifiers.org/clinvar/151263 ^@ GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 http://identifiers.org/clinvar/151264 ^@ GRCh38/hg38 11q22.3(chr11:104192271-105418437)x3 http://identifiers.org/clinvar/151265 ^@ GRCh38/hg38 11p14.3(chr11:23335670-25613811)x3 http://identifiers.org/clinvar/151266 ^@ GRCh38/hg38 11q22.3(chr11:103610887-103733385)x1 http://identifiers.org/clinvar/151267 ^@ GRCh38/hg38 11q25(chr11:134287463-134358144)x3 http://identifiers.org/clinvar/151268 ^@ GRCh38/hg38 11p13(chr11:31189295-31701133)x1 http://identifiers.org/clinvar/151269 ^@ GRCh38/hg38 11q14.1(chr11:81426056-81507895)x1 http://identifiers.org/clinvar/151270 ^@ GRCh38/hg38 11q22.3(chr11:104772488-104831110)x3 http://identifiers.org/clinvar/151272 ^@ GRCh38/hg38 11p14.3(chr11:24144115-24454733)x1 http://identifiers.org/clinvar/151273 ^@ GRCh38/hg38 11p11.2(chr11:48110126-48623909)x3 http://identifiers.org/clinvar/151274 ^@ GRCh38/hg38 11q25(chr11:134909002-135075212)x3 http://identifiers.org/clinvar/151275 ^@ GRCh38/hg38 11p13(chr11:31600532-32122801)x3 http://identifiers.org/clinvar/151276 ^@ GRCh38/hg38 11p15.5(chr11:359217-414570)x3 http://identifiers.org/clinvar/151277 ^@ GRCh38/hg38 13q31.3(chr13:91413406-91625217)x1 http://identifiers.org/clinvar/151278 ^@ GRCh38/hg38 13q12.11(chr13:19283997-19479601)x3 http://identifiers.org/clinvar/151279 ^@ GRCh38/hg38 13q32.1(chr13:95311075-95364650)x3 http://identifiers.org/clinvar/151281 ^@ GRCh38/hg38 13q14.3(chr13:52219507-52319676)x3 http://identifiers.org/clinvar/151282 ^@ GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 http://identifiers.org/clinvar/151283 ^@ GRCh38/hg38 13q14.11(chr13:41859904-42003348)x1 http://identifiers.org/clinvar/151284 ^@ GRCh38/hg38 13q34(chr13:113379795-113422629)x3 http://identifiers.org/clinvar/151285 ^@ GRCh38/hg38 12q21.31(chr12:82697865-82746258)x1 http://identifiers.org/clinvar/151286 ^@ GRCh38/hg38 12p13.1(chr12:13634987-13726033)x3 http://identifiers.org/clinvar/151287 ^@ GRCh38/hg38 12p12.1(chr12:24461328-24496832)x3 http://identifiers.org/clinvar/151288 ^@ NW_003571049.1:g.(?_33647)_(115270_?)dup http://identifiers.org/clinvar/151289 ^@ GRCh38/hg38 12p12.2-12.1(chr12:20864642-21203648)x1 http://identifiers.org/clinvar/151290 ^@ GRCh38/hg38 12q13.13(chr12:52310983-52353613)x3 http://identifiers.org/clinvar/151291 ^@ GRCh38/hg38 12q21.31(chr12:85584352-85784283)x1 http://identifiers.org/clinvar/151293 ^@ GRCh38/hg38 12q21.1(chr12:73965785-74074593)x1 http://identifiers.org/clinvar/151294 ^@ GRCh38/hg38 12q24.32(chr12:128105544-128205233)x3 http://identifiers.org/clinvar/151295 ^@ GRCh38/hg38 12p12.3(chr12:16041251-16088962)x1 http://identifiers.org/clinvar/151298 ^@ GRCh38/hg38 10q25.2(chr10:110354376-110563930)x3 http://identifiers.org/clinvar/151299 ^@ GRCh38/hg38 10p15.3(chr10:1706739-1744386)x3 http://identifiers.org/clinvar/151300 ^@ GRCh38/hg38 10p15.3-15.2(chr10:2653200-3081869)x3 http://identifiers.org/clinvar/151301 ^@ GRCh38/hg38 10p11.21(chr10:34766430-34894473)x3 http://identifiers.org/clinvar/151303 ^@ GRCh38/hg38 10q21.1(chr10:55172554-55427295)x1 http://identifiers.org/clinvar/151304 ^@ GRCh38/hg38 10q26.13(chr10:122751389-122777546)x1 http://identifiers.org/clinvar/151305 ^@ GRCh38/hg38 10q21.3(chr10:65225272-65361860)x1 http://identifiers.org/clinvar/151306 ^@ GRCh38/hg38 10q26.2(chr10:126705578-126874970)x1 http://identifiers.org/clinvar/151307 ^@ GRCh38/hg38 10q25.2(chr10:110543851-110588763)x3 http://identifiers.org/clinvar/151308 ^@ GRCh38/hg38 10p14(chr10:9526336-9679075)x1 http://identifiers.org/clinvar/151309 ^@ GRCh38/hg38 1p31.3(chr1:61246001-61654031)x3 http://identifiers.org/clinvar/151310 ^@ GRCh38/hg38 1q44(chr1:246202303-246759911)x3 http://identifiers.org/clinvar/151311 ^@ GRCh38/hg38 1q31.1(chr1:189460972-189593085)x1 http://identifiers.org/clinvar/151312 ^@ GRCh38/hg38 7p11.2(chr7:57130102-57649953)x1 http://identifiers.org/clinvar/151313 ^@ GRCh38/hg38 1q42.13(chr1:227076872-227173125)x1 http://identifiers.org/clinvar/151314 ^@ GRCh37/hg19 1q21.1(chr1:142728921-142907112)x3 http://identifiers.org/clinvar/151315 ^@ GRCh38/hg38 1q21.2(chr1:149080778-149090012)x3 http://identifiers.org/clinvar/151316 ^@ GRCh38/hg38 1p31.1(chr1:69324212-69472414)x3 http://identifiers.org/clinvar/151317 ^@ GRCh38/hg38 1p31.1(chr1:80970822-81457887)x4 http://identifiers.org/clinvar/151318 ^@ GRCh37/hg19 1q21.1(chr1:143482388-143540851)x1 http://identifiers.org/clinvar/151319 ^@ GRCh37/hg19 1q21.1(chr1:144955198-145831720)x1 http://identifiers.org/clinvar/151320 ^@ GRCh38/hg38 1p36.33(chr1:955565-1072906)x3 http://identifiers.org/clinvar/151321 ^@ GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 http://identifiers.org/clinvar/151322 ^@ GRCh38/hg38 13q14.11(chr13:42684429-43246957)x1 http://identifiers.org/clinvar/151323 ^@ GRCh38/hg38 1q21.2(chr1:148262677-148437320)x3 http://identifiers.org/clinvar/151324 ^@ GRCh37/hg19 1q21.1(chr1:143441231-143532171)x3 http://identifiers.org/clinvar/151325 ^@ GRCh38/hg38 1p36.33(chr1:978251-1072906)x3 http://identifiers.org/clinvar/151326 ^@ GRCh38/hg38 1p12(chr1:118752239-119977596)x3 http://identifiers.org/clinvar/151327 ^@ GRCh38/hg38 1p36.33(chr1:996104-1072906)x3 http://identifiers.org/clinvar/151328 ^@ GRCh38/hg38 1p36.33(chr1:1143156-1223303)x1 http://identifiers.org/clinvar/151329 ^@ GRCh38/hg38 1p36.22(chr1:10637036-10743996)x3 http://identifiers.org/clinvar/151330 ^@ GRCh38/hg38 1p36.33(chr1:917483-1072906)x3 http://identifiers.org/clinvar/151331 ^@ GRCh38/hg38 1p34.1(chr1:44514045-44535607)x1 http://identifiers.org/clinvar/151333 ^@ GRCh38/hg38 1q21.1(chr1:121288839-121361765)x3 http://identifiers.org/clinvar/151334 ^@ GRCh37/hg19 1q21.2(chr1:148552009-148782879)x3 http://identifiers.org/clinvar/151335 ^@ GRCh38/hg38 1q31.1(chr1:189124219-189988145)x3 http://identifiers.org/clinvar/151336 ^@ GRCh38/hg38 1p36.11(chr1:26603706-26641760)x1 http://identifiers.org/clinvar/151337 ^@ GRCh38/hg38 1p36.31(chr1:5554106-5969826)x4 http://identifiers.org/clinvar/151338 ^@ GRCh38/hg38 18p11.31(chr18:3344833-3447770)x3 http://identifiers.org/clinvar/151339 ^@ GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3 http://identifiers.org/clinvar/151341 ^@ GRCh38/hg38 12q21.32(chr12:86429352-87327461)x1 http://identifiers.org/clinvar/151342 ^@ GRCh38/hg38 11q25(chr11:134511738-134576207)x1 http://identifiers.org/clinvar/151343 ^@ GRCh38/hg38 11q24.1(chr11:123486178-123569698)x3 http://identifiers.org/clinvar/151344 ^@ GRCh38/hg38 11p14.3-14.2(chr11:25402733-26309143)x3 http://identifiers.org/clinvar/151345 ^@ GRCh38/hg38 11q23.3-24.1(chr11:121248538-121592523)x3 http://identifiers.org/clinvar/151346 ^@ GRCh38/hg38 14q32.2(chr14:97808386-98782683)x3 http://identifiers.org/clinvar/151347 ^@ GRCh38/hg38 11p15.5(chr11:200222-237805)x3 http://identifiers.org/clinvar/151348 ^@ GRCh38/hg38 11q23.3(chr11:116801587-116880319)x3 http://identifiers.org/clinvar/151349 ^@ GRCh38/hg38 11p15.5(chr11:2601092-2606236)x1 http://identifiers.org/clinvar/151350 ^@ GRCh38/hg38 11q25(chr11:133216297-133808201)x3 http://identifiers.org/clinvar/151351 ^@ GRCh38/hg38 11p15.2(chr11:14914381-15240180)x3 http://identifiers.org/clinvar/151352 ^@ GRCh38/hg38 11p14.3(chr11:22162150-22321563)x3 http://identifiers.org/clinvar/151353 ^@ GRCh38/hg38 11q22.3(chr11:109934266-110057364)x3 http://identifiers.org/clinvar/151354 ^@ GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 http://identifiers.org/clinvar/151355 ^@ GRCh38/hg38 11q14.1(chr11:84896337-85073129)x1 http://identifiers.org/clinvar/151356 ^@ GRCh38/hg38 11q21(chr11:94324359-94366689)x1 http://identifiers.org/clinvar/151357 ^@ GRCh38/hg38 22q11.21(chr22:20375098-21111370)x3 http://identifiers.org/clinvar/151358 ^@ GRCh38/hg38 1p31.3(chr1:65395820-65473801)x3 http://identifiers.org/clinvar/151359 ^@ GRCh38/hg38 1q21.1(chr1:145603343-145808847)x3 http://identifiers.org/clinvar/151360 ^@ GRCh38/hg38 1q25.2(chr1:179721233-179745909)x3 http://identifiers.org/clinvar/151361 ^@ GRCh38/hg38 1q24.3(chr1:171750391-171975263)x3 http://identifiers.org/clinvar/151362 ^@ GRCh37/hg19 1q44(chr1:248862205-249113356)x3 http://identifiers.org/clinvar/151363 ^@ GRCh38/hg38 1p31.3(chr1:63685499-63710831)x1 http://identifiers.org/clinvar/151364 ^@ GRCh38/hg38 1p33(chr1:49268315-49296941)x1 http://identifiers.org/clinvar/151365 ^@ GRCh38/hg38 1p36.22(chr1:10693021-10743996)x3 http://identifiers.org/clinvar/151366 ^@ GRCh38/hg38 Xq23(chrX:110359806-111260954)x3 http://identifiers.org/clinvar/151367 ^@ GRCh38/hg38 1q44(chr1:244646846-244668488)x3 http://identifiers.org/clinvar/151368 ^@ GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1 http://identifiers.org/clinvar/151369 ^@ GRCh38/hg38 1q31.2(chr1:191720507-191857495)x1 http://identifiers.org/clinvar/151370 ^@ GRCh38/hg38 1q21.1(chr1:145699739-145814985)x3 http://identifiers.org/clinvar/151371 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 http://identifiers.org/clinvar/151372 ^@ GRCh38/hg38 22q11.21(chr22:21046394-21107463)x3 http://identifiers.org/clinvar/151373 ^@ GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 http://identifiers.org/clinvar/151374 ^@ GRCh38/hg38 22q13.1(chr22:38846447-38976338)x3 http://identifiers.org/clinvar/151375 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 http://identifiers.org/clinvar/151376 ^@ GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3 http://identifiers.org/clinvar/151377 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48975945-49103655)x3 http://identifiers.org/clinvar/151378 ^@ GRCh38/hg38 22q12.3(chr22:33711350-33768641)x1 http://identifiers.org/clinvar/151379 ^@ GRCh38/hg38 21p11.2(chr21:8845963-10169868)x3 http://identifiers.org/clinvar/151380 ^@ GRCh38/hg38 21q22.3(chr21:41702859-41855368)x3 http://identifiers.org/clinvar/151381 ^@ GRCh38/hg38 21q21.1-21.2(chr21:22354814-22618997)x1 http://identifiers.org/clinvar/151382 ^@ GRCh38/hg38 21q22.11-22.12(chr21:7743711-7865746)x3 http://identifiers.org/clinvar/151383 ^@ GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1 http://identifiers.org/clinvar/151384 ^@ GRCh38/hg38 21q11.2(chr21:14538990-14555230)x3 http://identifiers.org/clinvar/151385 ^@ GRCh38/hg38 21p11.2(chr21:8845963-9366322)x3 http://identifiers.org/clinvar/151387 ^@ GRCh38/hg38 21q22.3(chr21:43521150-43617511)x1 http://identifiers.org/clinvar/151388 ^@ GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 http://identifiers.org/clinvar/151389 ^@ GRCh38/hg38 20p11.1(chr20:25795534-26244487)x3 http://identifiers.org/clinvar/151390 ^@ GRCh38/hg38 20p12.1(chr20:14753765-14895065)x1 http://identifiers.org/clinvar/151391 ^@ GRCh38/hg38 20p12.1(chr20:14775747-14818452)x1 http://identifiers.org/clinvar/151392 ^@ GRCh38/hg38 20q11.21(chr20:33002915-33065173)x3 http://identifiers.org/clinvar/151393 ^@ GRCh38/hg38 20q13.13(chr20:47865750-48502791)x3 http://identifiers.org/clinvar/151394 ^@ GRCh38/hg38 2p25.3(chr2:186745-255735)x1 http://identifiers.org/clinvar/151395 ^@ GRCh38/hg38 9q34.3(chr9:137372891-137757091)x3 http://identifiers.org/clinvar/151396 ^@ GRCh38/hg38 2p11.2(chr2:83577669-83827758)x3 http://identifiers.org/clinvar/151397 ^@ GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1 http://identifiers.org/clinvar/151398 ^@ GRCh38/hg38 2p22.3(chr2:35299076-35395445)x1 http://identifiers.org/clinvar/151399 ^@ GRCh38/hg38 2p11.2(chr2:88944755-88959991)x1 http://identifiers.org/clinvar/151400 ^@ GRCh38/hg38 2q13(chr2:111800385-111834510)x3 http://identifiers.org/clinvar/151401 ^@ GRCh38/hg38 2p21(chr2:44008834-44102863)x1 http://identifiers.org/clinvar/151402 ^@ GRCh38/hg38 2p16.3(chr2:50587538-50730317)x1 http://identifiers.org/clinvar/151403 ^@ GRCh38/hg38 2q31.1(chr2:169788598-169877259)x3 http://identifiers.org/clinvar/151404 ^@ GRCh38/hg38 2p16.3(chr2:48929614-49049127)x1 http://identifiers.org/clinvar/151405 ^@ GRCh38/hg38 2p11.2(chr2:89023889-90225016)x3 http://identifiers.org/clinvar/151406 ^@ GRCh38/hg38 16p13.2-13.13(chr16:9992260-10429970)x3 http://identifiers.org/clinvar/151407 ^@ GRCh38/hg38 2q34(chr2:212964934-213515243)x3 http://identifiers.org/clinvar/151408 ^@ GRCh38/hg38 2q36.1(chr2:221387619-221599343)x1 http://identifiers.org/clinvar/151409 ^@ GRCh38/hg38 2q37.3(chr2:239045268-239678582)x1 http://identifiers.org/clinvar/151410 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95917954-96006224)x3 http://identifiers.org/clinvar/151411 ^@ GRCh38/hg38 2p25.3(chr2:1438270-1504110)x3 http://identifiers.org/clinvar/151412 ^@ GRCh38/hg38 2p21(chr2:45253291-45851241)x3 http://identifiers.org/clinvar/151413 ^@ GRCh38/hg38 2p16.3(chr2:50743524-50780885)x3 http://identifiers.org/clinvar/151414 ^@ GRCh38/hg38 2p16.3(chr2:50856272-50882552)x1 http://identifiers.org/clinvar/151416 ^@ GRCh38/hg38 2p11.2(chr2:88988717-91627653)x3 http://identifiers.org/clinvar/151417 ^@ GRCh38/hg38 2p22.1(chr2:39037130-39390808)x3 http://identifiers.org/clinvar/151418 ^@ GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1 http://identifiers.org/clinvar/151419 ^@ GRCh38/hg38 2p12(chr2:82373086-82695888)x1 http://identifiers.org/clinvar/151420 ^@ GRCh38/hg38 2p11.2(chr2:85179123-85369264)x3 http://identifiers.org/clinvar/151421 ^@ GRCh38/hg38 2q12.3(chr2:107822694-107860072)x3 http://identifiers.org/clinvar/151422 ^@ GRCh38/hg38 2p23.1(chr2:31327058-31353154)x3 http://identifiers.org/clinvar/151423 ^@ GRCh38/hg38 2p22.3(chr2:32562132-32743452)x3 http://identifiers.org/clinvar/151425 ^@ GRCh38/hg38 2q11.2(chr2:96006224-96039305)x3 http://identifiers.org/clinvar/151426 ^@ GRCh38/hg38 2q34(chr2:211495527-211547980)x1 http://identifiers.org/clinvar/151427 ^@ GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3 http://identifiers.org/clinvar/151428 ^@ GRCh38/hg38 2q22.1(chr2:139601215-139787365)x1 http://identifiers.org/clinvar/151429 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95969423-96006224)x3 http://identifiers.org/clinvar/151430 ^@ GRCh38/hg38 2q34(chr2:214022722-214055178)x3 http://identifiers.org/clinvar/151431 ^@ GRCh38/hg38 2q14.1(chr2:117045631-117155528)x3 http://identifiers.org/clinvar/151432 ^@ GRCh38/hg38 2p16.3(chr2:50004126-50041370)x3 http://identifiers.org/clinvar/151433 ^@ GRCh38/hg38 1q44(chr1:245952736-246624559)x3 http://identifiers.org/clinvar/151434 ^@ GRCh38/hg38 2q13(chr2:110104900-110257869)x1 http://identifiers.org/clinvar/151435 ^@ GRCh38/hg38 2p14(chr2:65377225-66768570)x3 http://identifiers.org/clinvar/151436 ^@ GRCh38/hg38 1q41(chr1:216092120-216123973)x1 http://identifiers.org/clinvar/151437 ^@ GRCh38/hg38 1q42.12(chr1:225751478-225894702)x3 http://identifiers.org/clinvar/151438 ^@ GRCh38/hg38 1q24.2(chr1:167801066-167863028)x1 http://identifiers.org/clinvar/151439 ^@ GRCh37/hg19 1q21.1(chr1:142663112-142791662)x3 http://identifiers.org/clinvar/151440 ^@ GRCh37/hg19 1q21.1(chr1:143391916-143457097)x3 http://identifiers.org/clinvar/151441 ^@ GRCh38/hg38 1p31.3(chr1:65473801-65541817)x3 http://identifiers.org/clinvar/151442 ^@ GRCh37/hg19 1q21.1-21.2(chr1:145751815-148000664)x3 http://identifiers.org/clinvar/151443 ^@ GRCh38/hg38 10p15.3-15.2(chr10:2366657-3164173)x3 http://identifiers.org/clinvar/151444 ^@ GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3 http://identifiers.org/clinvar/151445 ^@ GRCh37/hg19 1q21.1(chr1:143457097-143532171)x3 http://identifiers.org/clinvar/151446 ^@ GRCh38/hg38 1p36.23(chr1:8676128-8742954)x1 http://identifiers.org/clinvar/151447 ^@ GRCh38/hg38 1p13.3(chr1:108268404-108398488)x3 http://identifiers.org/clinvar/151448 ^@ GRCh38/hg38 1q44(chr1:247870345-247871020)x3 http://identifiers.org/clinvar/151449 ^@ GRCh37/hg19 1q21.1(chr1:143753740-144090824)x3 http://identifiers.org/clinvar/151450 ^@ GRCh38/hg38 1q41(chr1:223742902-223749425)x3 http://identifiers.org/clinvar/151451 ^@ GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 http://identifiers.org/clinvar/151452 ^@ GRCh38/hg38 14q23.2(chr14:62330001-63219846)x3 http://identifiers.org/clinvar/151453 ^@ GRCh38/hg38 19p13.3(chr19:1102684-1144297)x3 http://identifiers.org/clinvar/151454 ^@ GRCh38/hg38 19q13.42(chr19:54265945-54352526)x3 http://identifiers.org/clinvar/151455 ^@ GRCh38/hg38 19q11(chr19:27917896-28021290)x4 http://identifiers.org/clinvar/151456 ^@ GRCh38/hg38 19p13.3(chr19:127601-156185)x3 http://identifiers.org/clinvar/151457 ^@ GRCh38/hg38 19p13.12(chr19:15692480-15713236)x3 http://identifiers.org/clinvar/151458 ^@ GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3 http://identifiers.org/clinvar/151459 ^@ GRCh38/hg38 19q12(chr19:29686202-29751260)x3 http://identifiers.org/clinvar/151460 ^@ GRCh38/hg38 19p13.3(chr19:1121304-1161676)x3 http://identifiers.org/clinvar/151461 ^@ GRCh38/hg38 19q13.43(chr19:57167550-57236826)x1 http://identifiers.org/clinvar/151462 ^@ GRCh38/hg38 19p13.2(chr19:6916228-7103285)x3 http://identifiers.org/clinvar/151463 ^@ GRCh38/hg38 2q37.2-37.3(chr2:236382349-237002439)x4 http://identifiers.org/clinvar/151464 ^@ GRCh38/hg38 19p13.2(chr19:12458412-12529618)x3 http://identifiers.org/clinvar/151465 ^@ GRCh38/hg38 19q11(chr19:27799110-27839617)x3 http://identifiers.org/clinvar/151466 ^@ GRCh38/hg38 19p13.3(chr19:91171-131425)x3 http://identifiers.org/clinvar/151467 ^@ GRCh38/hg38 19q13.43(chr19:56068382-56169136)x1 http://identifiers.org/clinvar/151468 ^@ GRCh38/hg38 19p13.3(chr19:91171-156185)x3 http://identifiers.org/clinvar/151469 ^@ GRCh38/hg38 19q13.12(chr19:35474957-35521132)x3 http://identifiers.org/clinvar/151470 ^@ GRCh38/hg38 19q13.2(chr19:39010191-39035118)x1 http://identifiers.org/clinvar/151471 ^@ GRCh38/hg38 19p12(chr19:20127738-20218077)x3 http://identifiers.org/clinvar/151472 ^@ GRCh38/hg38 19p13.3(chr19:61112-127601)x3 http://identifiers.org/clinvar/151474 ^@ GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3 http://identifiers.org/clinvar/151475 ^@ GRCh38/hg38 19p13.12(chr19:15631691-15655699)x3 http://identifiers.org/clinvar/151476 ^@ GRCh38/hg38 19p13.3(chr19:91171-127601)x3 http://identifiers.org/clinvar/151477 ^@ GRCh38/hg38 19p13.12(chr19:15631691-15713236)x3 http://identifiers.org/clinvar/151478 ^@ GRCh38/hg38 19p13.3(chr19:91171-168688)x3 http://identifiers.org/clinvar/151479 ^@ GRCh38/hg38 19q13.41(chr19:52356780-52386995)x1 http://identifiers.org/clinvar/151480 ^@ GRCh38/hg38 19q13.42(chr19:53159246-53289022)x3 http://identifiers.org/clinvar/151481 ^@ GRCh38/hg38 19q13.42(chr19:54265945-54324473)x3 http://identifiers.org/clinvar/151483 ^@ GRCh38/hg38 19p13.2(chr19:8078715-8308568)x3 http://identifiers.org/clinvar/151484 ^@ GRCh38/hg38 19p13.3(chr19:61112-186241)x3 http://identifiers.org/clinvar/151485 ^@ GRCh38/hg38 19p12(chr19:20647266-20818343)x3 http://identifiers.org/clinvar/151486 ^@ GRCh38/hg38 19p13.3(chr19:1911810-1952591)x3 http://identifiers.org/clinvar/151487 ^@ GRCh38/hg38 18q22.1(chr18:66903229-67002069)x1 http://identifiers.org/clinvar/151488 ^@ GRCh38/hg38 2q31.2(chr2:177685412-177711841)x3 http://identifiers.org/clinvar/151489 ^@ GRCh38/hg38 16q23.1(chr16:77630519-78171567)x3 http://identifiers.org/clinvar/151490 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6913063-7354636)x3 http://identifiers.org/clinvar/151491 ^@ GRCh38/hg38 18q22.1(chr18:67981221-68105118)x1 http://identifiers.org/clinvar/151492 ^@ GRCh38/hg38 18q11.2-12.1(chr18:27303874-27509856)x1 http://identifiers.org/clinvar/151493 ^@ GRCh38/hg38 18q23(chr18:79910636-79948866)x3 http://identifiers.org/clinvar/151494 ^@ GRCh38/hg38 18p11.32(chr18:2549225-2700108)x3 http://identifiers.org/clinvar/151495 ^@ GRCh38/hg38 Xq25(chrX:127089919-127449867)x0 http://identifiers.org/clinvar/151496 ^@ GRCh38/hg38 17q25.3(chr17:82911614-83048767)x3 http://identifiers.org/clinvar/151497 ^@ GRCh38/hg38 17p11.2(chr17:16787890-16819465)x3 http://identifiers.org/clinvar/151498 ^@ GRCh38/hg38 17p13.3(chr17:2178377-2223722)x3 http://identifiers.org/clinvar/151499 ^@ GRCh38/hg38 17p13.3(chr17:954820-1009440)x3 http://identifiers.org/clinvar/151500 ^@ GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1 http://identifiers.org/clinvar/151501 ^@ GRCh38/hg38 17p11.2(chr17:20185062-20316092)x3 http://identifiers.org/clinvar/151502 ^@ GRCh38/hg38 17p13.2(chr17:3624551-3655040)x1 http://identifiers.org/clinvar/151503 ^@ GRCh38/hg38 17p12(chr17:15734367-15770848)x3 http://identifiers.org/clinvar/151504 ^@ GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3 http://identifiers.org/clinvar/151505 ^@ GRCh38/hg38 Xq22.3(chrX:104917368-104945823)x3 http://identifiers.org/clinvar/151506 ^@ GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 http://identifiers.org/clinvar/151507 ^@ GRCh38/hg38 17q11.2(chr17:29065798-29095677)x3 http://identifiers.org/clinvar/151508 ^@ GRCh38/hg38 17p13.3(chr17:722176-775586)x3 http://identifiers.org/clinvar/151509 ^@ GRCh38/hg38 17p13.3(chr17:246768-311632)x3 http://identifiers.org/clinvar/151510 ^@ GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1 http://identifiers.org/clinvar/151511 ^@ GRCh38/hg38 17q22(chr17:57458711-57486761)x1 http://identifiers.org/clinvar/151512 ^@ GRCh38/hg38 17p13.3(chr17:847955-984405)x3 http://identifiers.org/clinvar/151513 ^@ GRCh38/hg38 17q23.2(chr17:61859764-61943694)x3 http://identifiers.org/clinvar/151514 ^@ GRCh38/hg38 Xq12(chrX:67428035-67508792)x2 http://identifiers.org/clinvar/151515 ^@ GRCh38/hg38 Xq12(chrX:67428035-67508792)x3 http://identifiers.org/clinvar/151516 ^@ GRCh38/hg38 17p11.2(chr17:19601336-19642767)x1 http://identifiers.org/clinvar/151517 ^@ GRCh38/hg38 17q12(chr17:36180741-37971356)x1 http://identifiers.org/clinvar/151519 ^@ GRCh38/hg38 7p13(chr7:44345798-45076469)x3 http://identifiers.org/clinvar/151522 ^@ GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x2 http://identifiers.org/clinvar/151523 ^@ GRCh38/hg38 Xq13.1(chrX:69987949-70082820)x4 http://identifiers.org/clinvar/151524 ^@ GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x3 http://identifiers.org/clinvar/151525 ^@ GRCh38/hg38 14q31.1(chr14:78953954-79461926)x1 http://identifiers.org/clinvar/151527 ^@ GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 http://identifiers.org/clinvar/151529 ^@ GRCh38/hg38 4q31.3(chr4:151956656-152519401)x1 http://identifiers.org/clinvar/151531 ^@ GRCh38/hg38 4q24(chr4:100579010-101522050)x1 http://identifiers.org/clinvar/151532 ^@ GRCh38/hg38 Xq12(chrX:67296350-67410794)x2 http://identifiers.org/clinvar/151534 ^@ GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1 http://identifiers.org/clinvar/151535 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 http://identifiers.org/clinvar/151536 ^@ GRCh38/hg38 16p11.2(chr16:28809422-29033455)x1 http://identifiers.org/clinvar/151537 ^@ GRCh38/hg38 8p22(chr8:14940111-14976577)x3 http://identifiers.org/clinvar/151538 ^@ GRCh38/hg38 8p23.3(chr8:2053615-2065682)x1 http://identifiers.org/clinvar/151539 ^@ GRCh38/hg38 8q11.1(chr8:46042222-46827187)x1 http://identifiers.org/clinvar/151540 ^@ GRCh38/hg38 8q24.12(chr8:118406090-118413358)x1 http://identifiers.org/clinvar/151541 ^@ GRCh38/hg38 8p23.1(chr8:8879422-8902765)x1 http://identifiers.org/clinvar/151542 ^@ GRCh38/hg38 8q24.12(chr8:119196262-119291664)x3 http://identifiers.org/clinvar/151543 ^@ GRCh38/hg38 8p23.3(chr8:66046-123860)x3 http://identifiers.org/clinvar/151544 ^@ GRCh38/hg38 8q11.21(chr8:49447806-49646386)x1 http://identifiers.org/clinvar/151545 ^@ GRCh38/hg38 8p23.1(chr8:11773771-11821194)x1 http://identifiers.org/clinvar/151546 ^@ GRCh38/hg38 Xq23(chrX:113959540-114062899)x3 http://identifiers.org/clinvar/151547 ^@ GRCh38/hg38 8p23.1(chr8:8805156-8863619)x3 http://identifiers.org/clinvar/151548 ^@ GRCh38/hg38 8q24.21(chr8:129867902-130095015)x3 http://identifiers.org/clinvar/151549 ^@ GRCh38/hg38 8q24.21(chr8:129867902-130095015)x4 http://identifiers.org/clinvar/151550 ^@ GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 http://identifiers.org/clinvar/151551 ^@ GRCh38/hg38 8p23.1-22(chr8:12732530-13130114)x3 http://identifiers.org/clinvar/151552 ^@ GRCh38/hg38 8p22(chr8:13234021-13254671)x1 http://identifiers.org/clinvar/151553 ^@ GRCh38/hg38 8p23.1(chr8:10458425-10580330)x3 http://identifiers.org/clinvar/151554 ^@ GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3 http://identifiers.org/clinvar/151555 ^@ GRCh37/hg19 Xq28(chrX:152253600-152529268)x3 http://identifiers.org/clinvar/151556 ^@ GRCh38/hg38 7p22.3(chr7:896276-940377)x3 http://identifiers.org/clinvar/151557 ^@ GRCh38/hg38 7p22.3(chr7:890905-945447)x3 http://identifiers.org/clinvar/151558 ^@ GRCh38/hg38 7q33(chr7:133798485-133889223)x1 http://identifiers.org/clinvar/151559 ^@ GRCh38/hg38 7p14.3(chr7:32186907-32377354)x3 http://identifiers.org/clinvar/151560 ^@ GRCh38/hg38 7p21.2(chr7:16325260-16401680)x1 http://identifiers.org/clinvar/151561 ^@ GRCh38/hg38 7p22.3(chr7:36480-102404)x3 http://identifiers.org/clinvar/151562 ^@ GRCh38/hg38 7p22.3(chr7:36480-227774)x3 http://identifiers.org/clinvar/151563 ^@ GRCh38/hg38 7p21.2(chr7:14691154-14721276)x3 http://identifiers.org/clinvar/151564 ^@ GRCh38/hg38 7q22.1(chr7:99643456-99913142)x3 http://identifiers.org/clinvar/151565 ^@ GRCh38/hg38 Xp21.2(chrX:30303676-30307893)x1 http://identifiers.org/clinvar/151566 ^@ GRCh38/hg38 7p22.1-21.3(chr7:7097890-7295446)x3 http://identifiers.org/clinvar/151567 ^@ GRCh38/hg38 7q32.2-32.3(chr7:130652821-131101662)x3 http://identifiers.org/clinvar/151568 ^@ GRCh38/hg38 7q21.13(chr7:90425353-90598188)x3 http://identifiers.org/clinvar/151569 ^@ GRCh38/hg38 7q11.21(chr7:66678941-66728431)x3 http://identifiers.org/clinvar/151570 ^@ GRCh38/hg38 7p21.1(chr7:17238688-17474079)x3 http://identifiers.org/clinvar/151571 ^@ GRCh38/hg38 7q36.3(chr7:155654153-156544324)x3 http://identifiers.org/clinvar/151572 ^@ GRCh38/hg38 7p21.3(chr7:8162035-8480330)x3 http://identifiers.org/clinvar/151573 ^@ GRCh38/hg38 7p11.2(chr7:55847801-55863945)x3 http://identifiers.org/clinvar/151574 ^@ GRCh38/hg38 7p22.3(chr7:890905-990730)x3 http://identifiers.org/clinvar/151575 ^@ GRCh38/hg38 7q31.33(chr7:125653070-125766034)x1 http://identifiers.org/clinvar/151576 ^@ GRCh38/hg38 Xp22.33(chrX:1259704-1295445)x3 http://identifiers.org/clinvar/151577 ^@ GRCh38/hg38 7p14.1(chr7:40217013-40238467)x1 http://identifiers.org/clinvar/151578 ^@ GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1 http://identifiers.org/clinvar/151579 ^@ GRCh38/hg38 17p13.3(chr17:342909-399401)x3 http://identifiers.org/clinvar/151580 ^@ GRCh38/hg38 17q12(chr17:33671106-34595887)x3 http://identifiers.org/clinvar/151581 ^@ GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1 http://identifiers.org/clinvar/151582 ^@ GRCh38/hg38 17q25.3(chr17:83048767-83086618)x3 http://identifiers.org/clinvar/151583 ^@ GRCh38/hg38 17q24.3(chr17:72122288-72124232)x3 http://identifiers.org/clinvar/151584 ^@ GRCh38/hg38 17q22(chr17:57347044-57486761)x1 http://identifiers.org/clinvar/151585 ^@ GRCh38/hg38 Xp22.31(chrX:8910669-9025530)x2 http://identifiers.org/clinvar/151586 ^@ GRCh38/hg38 16p12.2(chr16:21585329-21717046)x1 http://identifiers.org/clinvar/151587 ^@ GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3 http://identifiers.org/clinvar/151588 ^@ GRCh38/hg38 16p13.3(chr16:6081104-6735606)x3 http://identifiers.org/clinvar/151589 ^@ GRCh38/hg38 16p11.2(chr16:29581462-29720976)x4 http://identifiers.org/clinvar/151590 ^@ GRCh38/hg38 6p22.3(chr6:24686052-24833713)x3 http://identifiers.org/clinvar/151591 ^@ GRCh38/hg38 6q23.2(chr6:131477455-131596004)x3 http://identifiers.org/clinvar/151592 ^@ GRCh38/hg38 6q27(chr6:165631374-166405780)x3 http://identifiers.org/clinvar/151593 ^@ GRCh38/hg38 6q27(chr6:165631374-166361022)x3 http://identifiers.org/clinvar/151594 ^@ GRCh38/hg38 6p21.31(chr6:35521732-35570367)x3 http://identifiers.org/clinvar/151596 ^@ GRCh37/hg19 Xp22.33(chrX:1035386-1199297)x1 http://identifiers.org/clinvar/151597 ^@ GRCh38/hg38 6q22.32-22.33(chr6:126793302-126881012)x1 http://identifiers.org/clinvar/151598 ^@ GRCh38/hg38 6q15(chr6:90066705-90571680)x3 http://identifiers.org/clinvar/151599 ^@ GRCh38/hg38 6p21.31(chr6:35547999-35570367)x3 http://identifiers.org/clinvar/151600 ^@ GRCh38/hg38 6q15-16.1(chr6:90687494-93806515)x1 http://identifiers.org/clinvar/151601 ^@ GRCh38/hg38 6q16.1(chr6:94747115-94815898)x1 http://identifiers.org/clinvar/151602 ^@ GRCh38/hg38 6p22.3(chr6:22309428-22390986)x1 http://identifiers.org/clinvar/151603 ^@ GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 http://identifiers.org/clinvar/151604 ^@ GRCh38/hg38 6q16.1(chr6:94769065-94844650)x1 http://identifiers.org/clinvar/151605 ^@ GRCh38/hg38 6p25.3(chr6:170426-1621983)x1 http://identifiers.org/clinvar/151606 ^@ GRCh38/hg38 6q15(chr6:91998071-92126735)x3 http://identifiers.org/clinvar/151607 ^@ GRCh38/hg38 6p22.3(chr6:24281919-24479832)x1 http://identifiers.org/clinvar/151608 ^@ GRCh38/hg38 6q16.1(chr6:96121255-96148537)x3 http://identifiers.org/clinvar/151609 ^@ GRCh38/hg38 6q11.1(chr6:61544320-61886581)x3 http://identifiers.org/clinvar/151610 ^@ GRCh38/hg38 6q27(chr6:168218779-168460174)x3 http://identifiers.org/clinvar/151611 ^@ GRCh38/hg38 6q22.33(chr6:127633679-127755583)x3 http://identifiers.org/clinvar/151612 ^@ GRCh38/hg38 6q26(chr6:162155203-162356161)x1 http://identifiers.org/clinvar/151613 ^@ GRCh38/hg38 6q25.3(chr6:157489414-157547682)x3 http://identifiers.org/clinvar/151614 ^@ GRCh38/hg38 6q13(chr6:70309182-70479207)x3 http://identifiers.org/clinvar/151615 ^@ GRCh38/hg38 6p22.1(chr6:29134533-29154904)x1 http://identifiers.org/clinvar/151616 ^@ GRCh38/hg38 Xp22.11(chrX:23840295-23850292)x3 http://identifiers.org/clinvar/151617 ^@ GRCh38/hg38 6q25.3(chr6:159598794-159726489)x3 http://identifiers.org/clinvar/151618 ^@ GRCh38/hg38 6q16.1(chr6:96044235-96075275)x3 http://identifiers.org/clinvar/151619 ^@ GRCh38/hg38 6q16.1(chr6:93751303-94043228)x1 http://identifiers.org/clinvar/151620 ^@ GRCh37/hg19 6p11.2(chr6:57215547-57631490)x3 http://identifiers.org/clinvar/151621 ^@ GRCh38/hg38 6q21(chr6:109780913-110202309)x1 http://identifiers.org/clinvar/151622 ^@ GRCh38/hg38 5p15.2(chr5:12530621-12769453)x1 http://identifiers.org/clinvar/151623 ^@ GRCh38/hg38 5q33.1(chr5:150806692-150930666)x1 http://identifiers.org/clinvar/151624 ^@ GRCh38/hg38 5q35.3(chr5:178021540-178160440)x3 http://identifiers.org/clinvar/151625 ^@ GRCh38/hg38 Xq25(chrX:128779694-128859077)x3 http://identifiers.org/clinvar/151626 ^@ GRCh38/hg38 5q23.1(chr5:120823304-120920431)x1 http://identifiers.org/clinvar/151627 ^@ GRCh38/hg38 5p15.33(chr5:1556823-1755257)x3 http://identifiers.org/clinvar/151628 ^@ GRCh38/hg38 5q31.1(chr5:131701656-131883377)x1 http://identifiers.org/clinvar/151629 ^@ GRCh38/hg38 5q21.1(chr5:102304556-102388761)x3 http://identifiers.org/clinvar/151630 ^@ GRCh38/hg38 5p15.33(chr5:22149-658446)x1 http://identifiers.org/clinvar/151631 ^@ GRCh38/hg38 5p15.33(chr5:314795-496067)x1 http://identifiers.org/clinvar/151632 ^@ GRCh38/hg38 16p13.3(chr16:979282-985586)x3 http://identifiers.org/clinvar/151633 ^@ GRCh38/hg38 16p13.3(chr16:636673-786508)x3 http://identifiers.org/clinvar/151634 ^@ GRCh38/hg38 Xp22.33(chrX:563635-667502)x3 http://identifiers.org/clinvar/151635 ^@ GRCh38/hg38 16p13.3(chr16:16203-129081)x3 http://identifiers.org/clinvar/151636 ^@ GRCh38/hg38 16p13.2(chr16:8915212-9047581)x3 http://identifiers.org/clinvar/151637 ^@ GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 http://identifiers.org/clinvar/151638 ^@ GRCh38/hg38 16q24.3(chr16:89582242-89593912)x3 http://identifiers.org/clinvar/151639 ^@ GRCh38/hg38 16p13.11(chr16:15937798-15954802)x3 http://identifiers.org/clinvar/151640 ^@ GRCh38/hg38 16q23.1(chr16:75517632-75541502)x4 http://identifiers.org/clinvar/151641 ^@ GRCh38/hg38 16q23.1(chr16:75517632-75541502)x3 http://identifiers.org/clinvar/151642 ^@ GRCh38/hg38 16p13.3(chr16:2084201-2092088)x3 http://identifiers.org/clinvar/151643 ^@ GRCh37/hg19 Xp22.33(chrX:974682-1252522)x3 http://identifiers.org/clinvar/151644 ^@ GRCh38/hg38 16q24.3(chr16:89586679-89648483)x3 http://identifiers.org/clinvar/151645 ^@ GRCh38/hg38 16p13.3(chr16:534395-722554)x3 http://identifiers.org/clinvar/151646 ^@ GRCh38/hg38 16p13.11(chr16:16158812-16234042)x3 http://identifiers.org/clinvar/151647 ^@ GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1 http://identifiers.org/clinvar/151648 ^@ GRCh38/hg38 5q22.1(chr5:110290955-110606153)x1 http://identifiers.org/clinvar/151649 ^@ GRCh38/hg38 5q31.2(chr5:137051283-137088694)x3 http://identifiers.org/clinvar/151650 ^@ GRCh38/hg38 5p15.33(chr5:981420-1021566)x1 http://identifiers.org/clinvar/151651 ^@ GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1 http://identifiers.org/clinvar/151652 ^@ GRCh38/hg38 5q35.3(chr5:179140430-179297235)x3 http://identifiers.org/clinvar/151653 ^@ GRCh38/hg38 Xp22.11(chrX:22797762-22853238)x2 http://identifiers.org/clinvar/151654 ^@ GRCh38/hg38 5q21.3(chr5:106057229-106186663)x3 http://identifiers.org/clinvar/151655 ^@ GRCh38/hg38 5q35.3(chr5:181394958-181448620)x3 http://identifiers.org/clinvar/151656 ^@ GRCh38/hg38 5q21.1(chr5:101222806-101572534)x3 http://identifiers.org/clinvar/151657 ^@ GRCh38/hg38 5p15.33(chr5:1286182-1296349)x1 http://identifiers.org/clinvar/151658 ^@ GRCh38/hg38 5q14.3(chr5:84485029-84603580)x1 http://identifiers.org/clinvar/151659 ^@ GRCh38/hg38 5p15.33(chr5:79031-182453)x3 http://identifiers.org/clinvar/151660 ^@ GRCh38/hg38 5q31.1(chr5:132180822-132235177)x3 http://identifiers.org/clinvar/151661 ^@ GRCh38/hg38 5p13.2(chr5:37150088-37364068)x3 http://identifiers.org/clinvar/151662 ^@ GRCh38/hg38 5q32(chr5:150017045-150043507)x1 http://identifiers.org/clinvar/151663 ^@ GRCh38/hg38 5p14.3-14.2(chr5:22002509-23432919)x3 http://identifiers.org/clinvar/151664 ^@ GRCh38/hg38 Xp22.31(chrX:6535231-6535272)x2 http://identifiers.org/clinvar/151665 ^@ GRCh38/hg38 5q12.1(chr5:60420285-60449131)x3 http://identifiers.org/clinvar/151666 ^@ GRCh38/hg38 5q35.3(chr5:180750527-180764645)x3 http://identifiers.org/clinvar/151667 ^@ GRCh38/hg38 5p14.3(chr5:21402830-21527453)x1 http://identifiers.org/clinvar/151668 ^@ GRCh38/hg38 5p13.1(chr5:38400157-38593979)x3 http://identifiers.org/clinvar/151669 ^@ GRCh38/hg38 5p15.1(chr5:16540213-16659844)x3 http://identifiers.org/clinvar/151670 ^@ GRCh38/hg38 5p12(chr5:45678461-46086772)x3 http://identifiers.org/clinvar/151671 ^@ GRCh38/hg38 5q21.1(chr5:102388761-102501808)x3 http://identifiers.org/clinvar/151672 ^@ GRCh38/hg38 5p15.2(chr5:12769453-12965577)x3 http://identifiers.org/clinvar/151673 ^@ GRCh38/hg38 5p15.33-15.32(chr5:3057457-4922388)x1 http://identifiers.org/clinvar/151674 ^@ GRCh38/hg38 5q22.2-22.3(chr5:113743389-113834452)x1 http://identifiers.org/clinvar/151675 ^@ GRCh38/hg38 Xq28(chrX:149602405-149653242)x2 http://identifiers.org/clinvar/151676 ^@ GRCh38/hg38 Xq28(chrX:149602405-149653242)x3 http://identifiers.org/clinvar/151677 ^@ GRCh38/hg38 Xq28(chrX:149602405-149653242)x1 http://identifiers.org/clinvar/151678 ^@ GRCh38/hg38 4p11(chr4:48744719-48763015)x1 http://identifiers.org/clinvar/151679 ^@ GRCh38/hg38 4q35.2(chr4:188865474-189027792)x3 http://identifiers.org/clinvar/151680 ^@ GRCh38/hg38 4p16.3(chr4:958677-1026629)x4 http://identifiers.org/clinvar/151681 ^@ GRCh38/hg38 4q21.3(chr4:86002088-86051292)x3 http://identifiers.org/clinvar/151682 ^@ GRCh38/hg38 4q28.3(chr4:131367036-131530574)x1 http://identifiers.org/clinvar/151683 ^@ GRCh38/hg38 4p15.1(chr4:34366115-34526200)x1 http://identifiers.org/clinvar/151684 ^@ GRCh38/hg38 4q28.3(chr4:137183731-137260213)x1 http://identifiers.org/clinvar/151685 ^@ GRCh38/hg38 4q35.1(chr4:185447633-185579529)x3 http://identifiers.org/clinvar/151686 ^@ GRCh38/hg38 4q32.3(chr4:164385367-164592750)x3 http://identifiers.org/clinvar/151687 ^@ GRCh38/hg38 4p16.3(chr4:1234663-1330963)x3 http://identifiers.org/clinvar/151688 ^@ GRCh38/hg38 Xq26.2(chrX:131635210-131679218)x3 http://identifiers.org/clinvar/151689 ^@ GRCh38/hg38 4q35.2(chr4:189099800-190018185)x1 http://identifiers.org/clinvar/151690 ^@ GRCh38/hg38 4p16.3(chr4:135972-227660)x3 http://identifiers.org/clinvar/151691 ^@ GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1 http://identifiers.org/clinvar/151692 ^@ GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 http://identifiers.org/clinvar/151693 ^@ GRCh38/hg38 4p11(chr4:49161529-49235485)x3 http://identifiers.org/clinvar/151694 ^@ GRCh38/hg38 4q28.2(chr4:127937074-128141489)x3 http://identifiers.org/clinvar/151695 ^@ GRCh38/hg38 4p11(chr4:49161529-49200536)x3 http://identifiers.org/clinvar/151696 ^@ GRCh38/hg38 4p11(chr4:49258971-49536308)x3 http://identifiers.org/clinvar/151697 ^@ GRCh38/hg38 4q28.3(chr4:131045265-131409566)x3 http://identifiers.org/clinvar/151698 ^@ GRCh38/hg38 Xq26.2(chrX:131784025-131835887)x3 http://identifiers.org/clinvar/151699 ^@ GRCh38/hg38 5q14.3(chr5:86658611-87608243)x1 http://identifiers.org/clinvar/151703 ^@ GRCh38/hg38 11p15.1-14.3(chr11:21892994-22246371)x1 http://identifiers.org/clinvar/151704 ^@ GRCh38/hg38 5q14.2-14.3(chr5:83470771-83778887)x1 http://identifiers.org/clinvar/151708 ^@ GRCh38/hg38 Xp22.33(chrX:1691430-1807405)x3 http://identifiers.org/clinvar/151709 ^@ GRCh38/hg38 1p21.1(chr1:103082841-103618409)x3 http://identifiers.org/clinvar/151712 ^@ GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 http://identifiers.org/clinvar/151713 ^@ GRCh38/hg38 Xp22.31(chrX:6532387-8147053)x3 http://identifiers.org/clinvar/151714 ^@ GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 http://identifiers.org/clinvar/151715 ^@ GRCh38/hg38 4q24(chr4:103434829-103926294)x1 http://identifiers.org/clinvar/151716 ^@ GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 http://identifiers.org/clinvar/151717 ^@ GRCh38/hg38 4p16.3(chr4:4165045-4188320)x3 http://identifiers.org/clinvar/151718 ^@ GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1 http://identifiers.org/clinvar/151719 ^@ GRCh38/hg38 4q35.2(chr4:189427039-189826409)x1 http://identifiers.org/clinvar/151720 ^@ GRCh38/hg38 4p16.3(chr4:975137-1026688)x3 http://identifiers.org/clinvar/151721 ^@ GRCh38/hg38 4q31.21(chr4:143449949-143473442)x3 http://identifiers.org/clinvar/151722 ^@ GRCh38/hg38 Xq21.33(chrX:95022651-95133723)x3 http://identifiers.org/clinvar/151723 ^@ GRCh38/hg38 4q21.21(chr4:81057364-81069232)x1 http://identifiers.org/clinvar/151724 ^@ GRCh38/hg38 4p16.3(chr4:4188320-4247526)x3 http://identifiers.org/clinvar/151725 ^@ GRCh38/hg38 4p16.1(chr4:9813097-10873771)x3 http://identifiers.org/clinvar/151726 ^@ GRCh38/hg38 4p16.3(chr4:3901828-4027484)x3 http://identifiers.org/clinvar/151727 ^@ GRCh38/hg38 4p16.3(chr4:434943-449208)x1 http://identifiers.org/clinvar/151728 ^@ GRCh38/hg38 4q13.3(chr4:72953320-73179066)x3 http://identifiers.org/clinvar/151729 ^@ GRCh38/hg38 4q35.2(chr4:188258996-188723218)x3 http://identifiers.org/clinvar/151730 ^@ GRCh38/hg38 4p16.3(chr4:64685-117990)x3 http://identifiers.org/clinvar/151731 ^@ GRCh38/hg38 4q33(chr4:169564250-169627295)x3 http://identifiers.org/clinvar/151732 ^@ GRCh38/hg38 Xp22.33(chrX:1259698-1295445)x4 http://identifiers.org/clinvar/151733 ^@ GRCh38/hg38 4p16.3(chr4:1723429-1790274)x3 http://identifiers.org/clinvar/151734 ^@ GRCh38/hg38 4q31.23(chr4:149149413-149252104)x1 http://identifiers.org/clinvar/151735 ^@ GRCh38/hg38 3q26.33(chr3:181712160-181713165)x3 http://identifiers.org/clinvar/151736 ^@ GRCh38/hg38 3p14.1(chr3:65536355-65582844)x3 http://identifiers.org/clinvar/151737 ^@ GRCh38/hg38 3p24.3(chr3:20624009-20723389)x1 http://identifiers.org/clinvar/151738 ^@ GRCh38/hg38 3q29(chr3:198074026-198203653)x3 http://identifiers.org/clinvar/151740 ^@ GRCh38/hg38 Xq26.2(chrX:131692202-131835887)x3 http://identifiers.org/clinvar/151741 ^@ GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3 http://identifiers.org/clinvar/151742 ^@ GRCh38/hg38 9q34.3(chr9:137810632-138104468)x3 http://identifiers.org/clinvar/151743 ^@ GRCh38/hg38 1q21.1(chr1:145605589-145809476)x1 http://identifiers.org/clinvar/151748 ^@ GRCh38/hg38 5q11.1(chr5:50163500-50762209)x3 http://identifiers.org/clinvar/151749 ^@ GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) http://identifiers.org/clinvar/151750 ^@ GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1 http://identifiers.org/clinvar/151751 ^@ GRCh38/hg38 Xp21.3(chrX:26237025-26327212)x2 http://identifiers.org/clinvar/151752 ^@ GRCh38/hg38 Xq13.1(chrX:71827651-71874597)x2 http://identifiers.org/clinvar/151753 ^@ GRCh38/hg38 8p23.1(chr8:11794524-12041471)x1 http://identifiers.org/clinvar/151754 ^@ GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 http://identifiers.org/clinvar/151755 ^@ GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) http://identifiers.org/clinvar/151756 ^@ GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 http://identifiers.org/clinvar/151757 ^@ GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 http://identifiers.org/clinvar/151758 ^@ GRCh38/hg38 6q27(chr6:168581259-170610394)x1 http://identifiers.org/clinvar/151764 ^@ GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1 http://identifiers.org/clinvar/151765 ^@ GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 http://identifiers.org/clinvar/151766 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 http://identifiers.org/clinvar/151768 ^@ GRCh38/hg38 12q21.31(chr12:84308104-84929814)x4 http://identifiers.org/clinvar/151769 ^@ GRCh38/hg38 22q11.21(chr22:18929329-19017259)x0 http://identifiers.org/clinvar/151770 ^@ GRCh38/hg38 2p16.3(chr2:48634764-48761441)x0 http://identifiers.org/clinvar/151771 ^@ GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1 http://identifiers.org/clinvar/151773 ^@ GRCh38/hg38 10q21.3(chr10:66546165-66750807)x1 http://identifiers.org/clinvar/151774 ^@ GRCh38/hg38 Xq12(chrX:67532311-68353901)x1 http://identifiers.org/clinvar/151775 ^@ GRCh38/hg38 Xp22.33(chrX:526459-795387)x3 http://identifiers.org/clinvar/151776 ^@ GRCh38/hg38 Xq21.31(chrX:91726484-92134459)x3 http://identifiers.org/clinvar/151777 ^@ GRCh38/hg38 Xq22.1(chrX:99445248-99589707)x0 http://identifiers.org/clinvar/151778 ^@ GRCh38/hg38 Xq27.3(chrX:146968990-147040761)x3 http://identifiers.org/clinvar/151779 ^@ GRCh38/hg38 Xp22.31(chrX:6406528-6735664)x3 http://identifiers.org/clinvar/151780 ^@ GRCh38/hg38 Xp21.1(chrX:33878889-33990612)x1 http://identifiers.org/clinvar/151781 ^@ GRCh38/hg38 Xq23-24(chrX:117115633-118037937)x3 http://identifiers.org/clinvar/151782 ^@ GRCh38/hg38 Xq11.1(chrX:62712219-62959030)x3 http://identifiers.org/clinvar/151783 ^@ GRCh38/hg38 Xp22.33(chrX:1691430-1947725)x3 http://identifiers.org/clinvar/151784 ^@ GRCh38/hg38 Xq21.32(chrX:94090493-94269331)x3 http://identifiers.org/clinvar/151785 ^@ GRCh38/hg38 Xq21.33(chrX:95733207-95822345)x3 http://identifiers.org/clinvar/151786 ^@ GRCh38/hg38 Xq28(chrX:154559495-154736598)x2 http://identifiers.org/clinvar/151787 ^@ GRCh38/hg38 Xp22.33(chrX:337908-736434)x3 http://identifiers.org/clinvar/151788 ^@ GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x2 http://identifiers.org/clinvar/151789 ^@ GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x1 http://identifiers.org/clinvar/151790 ^@ GRCh38/hg38 Xp22.33(chrX:3384867-3993821)x3 http://identifiers.org/clinvar/151791 ^@ GRCh38/hg38 Xp22.2(chrX:15908381-16432413)x3 http://identifiers.org/clinvar/151792 ^@ GRCh38/hg38 Xp22.33(chrX:1086932-1464861)x3 http://identifiers.org/clinvar/151793 ^@ GRCh38/hg38 Xq28(chrX:149383585-149599140)x2 http://identifiers.org/clinvar/151795 ^@ GRCh38/hg38 Xq27.1(chrX:140890952-140938633)x0 http://identifiers.org/clinvar/151796 ^@ GRCh38/hg38 Xq25(chrX:127506492-127573485)x0 http://identifiers.org/clinvar/151797 ^@ GRCh38/hg38 Xp11.3(chrX:44328048-44342018)x2 http://identifiers.org/clinvar/151798 ^@ GRCh38/hg38 Xp22.33(chrX:1055101-1228390)x3 http://identifiers.org/clinvar/151799 ^@ GRCh38/hg38 Xp22.33(chrX:495327-848778)x3 http://identifiers.org/clinvar/151800 ^@ GRCh38/hg38 Xq28(chrX:155590324-155718284)x3 http://identifiers.org/clinvar/151801 ^@ GRCh38/hg38 Xp22.33(chrX:320792-736434)x3 http://identifiers.org/clinvar/151802 ^@ GRCh38/hg38 Xp22.33(chrX:21267-820336)x3 http://identifiers.org/clinvar/151803 ^@ GRCh38/hg38 Xp22.13-22.12(chrX:19027190-19225592)x3 http://identifiers.org/clinvar/151804 ^@ GRCh38/hg38 Xp21.2(chrX:29420406-29482124)x3 http://identifiers.org/clinvar/151805 ^@ GRCh38/hg38 Xp21.1(chrX:33638034-33690712)x3 http://identifiers.org/clinvar/151806 ^@ GRCh38/hg38 Xp22.33(chrX:716801-762734)x1 http://identifiers.org/clinvar/151807 ^@ GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 http://identifiers.org/clinvar/151808 ^@ GRCh38/hg38 Xq11.2(chrX:64662965-64751122)x1 http://identifiers.org/clinvar/151809 ^@ GRCh38/hg38 Xp22.31(chrX:6100591-6104650)x1 http://identifiers.org/clinvar/151810 ^@ GRCh38/hg38 Xp22.31(chrX:6534648-6674429)x3 http://identifiers.org/clinvar/151811 ^@ GRCh38/hg38 Xp22.31(chrX:7614505-8147053)x2 http://identifiers.org/clinvar/151812 ^@ GRCh38/hg38 Xp22.33(chrX:309149-516712)x3 http://identifiers.org/clinvar/151813 ^@ GRCh38/hg38 Xq13.1(chrX:70512585-70536513)x1 http://identifiers.org/clinvar/151814 ^@ GRCh38/hg38 Xp22.31(chrX:8176030-8216172)x2 http://identifiers.org/clinvar/151815 ^@ GRCh38/hg38 Xp22.33(chrX:997890-1259698)x3 http://identifiers.org/clinvar/151816 ^@ GRCh38/hg38 Xp22.31(chrX:6962488-7428484)x2 http://identifiers.org/clinvar/151817 ^@ GRCh38/hg38 Xq11.1(chrX:62996173-63058748)x2 http://identifiers.org/clinvar/151818 ^@ GRCh38/hg38 Xq27.3(chrX:144353018-144402320)x3 http://identifiers.org/clinvar/151819 ^@ GRCh38/hg38 Xp22.33(chrX:1714189-2371604)x3 http://identifiers.org/clinvar/151820 ^@ GRCh38/hg38 Xq25(chrX:121834293-121900058)x1 http://identifiers.org/clinvar/151821 ^@ GRCh38/hg38 16p13.13(chr16:11497848-11525457)x3 http://identifiers.org/clinvar/151822 ^@ GRCh38/hg38 16q24.3(chr16:89593912-89623414)x3 http://identifiers.org/clinvar/151823 ^@ GRCh38/hg38 Xq21.33(chrX:96635070-96950685)x3 http://identifiers.org/clinvar/151824 ^@ GRCh38/hg38 16p13.3(chr16:5563365-5967775)x3 http://identifiers.org/clinvar/151825 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 http://identifiers.org/clinvar/151826 ^@ GRCh38/hg38 3q29(chr3:195631406-195838288)x3 http://identifiers.org/clinvar/151827 ^@ GRCh38/hg38 3q21.3(chr3:128640600-128784746)x3 http://identifiers.org/clinvar/151828 ^@ GRCh38/hg38 3q24(chr3:144143951-144270487)x1 http://identifiers.org/clinvar/151829 ^@ GRCh38/hg38 3p24.3(chr3:22079119-22155543)x3 http://identifiers.org/clinvar/151830 ^@ GRCh38/hg38 3q28(chr3:191647446-192214051)x3 http://identifiers.org/clinvar/151831 ^@ GRCh38/hg38 Xq21.33(chrX:97374905-97628895)x3 http://identifiers.org/clinvar/151832 ^@ GRCh38/hg38 3p12.2(chr3:80742163-81406716)x1 http://identifiers.org/clinvar/151833 ^@ GRCh38/hg38 3p26.3(chr3:1046521-1608517)x1 http://identifiers.org/clinvar/151834 ^@ GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1 http://identifiers.org/clinvar/151835 ^@ GRCh38/hg38 3q28(chr3:191142435-192393271)x1 http://identifiers.org/clinvar/151836 ^@ GRCh38/hg38 3p24.2(chr3:26019191-26196287)x1 http://identifiers.org/clinvar/151837 ^@ GRCh38/hg38 3p26.3(chr3:1126048-1196033)x3 http://identifiers.org/clinvar/151838 ^@ GRCh38/hg38 Xq28(chrX:149623375-149748784)x3 http://identifiers.org/clinvar/151839 ^@ GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 http://identifiers.org/clinvar/151840 ^@ GRCh38/hg38 Xp22.31(chrX:7480700-7835203)x3 http://identifiers.org/clinvar/151841 ^@ GRCh38/hg38 Xp22.33(chrX:378139-620042)x3 http://identifiers.org/clinvar/151842 ^@ GRCh38/hg38 Xp21.1(chrX:35999225-36256648)x2 http://identifiers.org/clinvar/151843 ^@ GRCh38/hg38 Xq28(chrX:155509742-155547057)x3 http://identifiers.org/clinvar/151844 ^@ GRCh38/hg38 Xp22.33(chrX:526459-575008)x3 http://identifiers.org/clinvar/151845 ^@ GRCh38/hg38 Xq23(chrX:116972004-117028412)x1 http://identifiers.org/clinvar/151846 ^@ GRCh38/hg38 Xp22.33(chrX:1898416-2326714)x3 http://identifiers.org/clinvar/151847 ^@ GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 http://identifiers.org/clinvar/151848 ^@ GRCh38/hg38 Xp22.31(chrX:7463693-7564483)x1 http://identifiers.org/clinvar/151849 ^@ GRCh38/hg38 Xp22.2(chrX:10017808-10034086)x3 http://identifiers.org/clinvar/151850 ^@ GRCh38/hg38 Xp22.11(chrX:22876030-22942627)x1 http://identifiers.org/clinvar/151851 ^@ GRCh38/hg38 Xq28(chrX:155889104-156020513)x3 http://identifiers.org/clinvar/151852 ^@ GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 http://identifiers.org/clinvar/151853 ^@ GRCh38/hg38 Xq26.3(chrX:135081690-135238922)x3 http://identifiers.org/clinvar/151854 ^@ GRCh38/hg38 Xp21.1(chrX:31564763-31571376)x1 http://identifiers.org/clinvar/151855 ^@ GRCh38/hg38 Xp22.33(chrX:538084-716801)x3 http://identifiers.org/clinvar/151856 ^@ GRCh38/hg38 Xq28(chrX:150268325-150336715)x2 http://identifiers.org/clinvar/151857 ^@ GRCh38/hg38 Xp11.4(chrX:41698827-41732124)x2 http://identifiers.org/clinvar/151858 ^@ GRCh38/hg38 Xq28(chrX:155442674-155449649)x2 http://identifiers.org/clinvar/151859 ^@ GRCh38/hg38 Xq13.2(chrX:73093602-73103636)x2 http://identifiers.org/clinvar/151860 ^@ GRCh38/hg38 Xp22.31(chrX:6542451-6634671)x2 http://identifiers.org/clinvar/151861 ^@ GRCh38/hg38 Xp22.31(chrX:7642683-8129411)x2 http://identifiers.org/clinvar/151862 ^@ GRCh38/hg38 Xq26.3(chrX:135540601-135591295)x3 http://identifiers.org/clinvar/151863 ^@ GRCh38/hg38 Xq13.1(chrX:69789628-69822584)x1 http://identifiers.org/clinvar/151864 ^@ GRCh38/hg38 Xp22.33(chrX:495327-538084)x1 http://identifiers.org/clinvar/151865 ^@ GRCh38/hg38 Xq23(chrX:117204357-117260292)x0 http://identifiers.org/clinvar/151866 ^@ GRCh38/hg38 Xp22.33(chrX:1674587-1947725)x3 http://identifiers.org/clinvar/151867 ^@ GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3 http://identifiers.org/clinvar/151868 ^@ GRCh38/hg38 Xq21.33(chrX:97519547-97568323)x0 http://identifiers.org/clinvar/151869 ^@ GRCh38/hg38 Xp22.33(chrX:1202712-1311821)x3 http://identifiers.org/clinvar/151870 ^@ GRCh38/hg38 Xp22.33(chrX:915816-1259698)x3 http://identifiers.org/clinvar/151871 ^@ GRCh38/hg38 Xq21.31(chrX:92499118-92542606)x3 http://identifiers.org/clinvar/151872 ^@ GRCh38/hg38 Xq12(chrX:66548368-66716830)x3 http://identifiers.org/clinvar/151873 ^@ GRCh38/hg38 Xp22.2(chrX:11108228-11121175)x3 http://identifiers.org/clinvar/151874 ^@ GRCh38/hg38 Xp22.33(chrX:1674587-1898416)x3 http://identifiers.org/clinvar/151875 ^@ GRCh38/hg38 Xp21.3(chrX:28234352-28286472)x3 http://identifiers.org/clinvar/151876 ^@ GRCh38/hg38 Xq23(chrX:113598360-113725045)x3 http://identifiers.org/clinvar/151877 ^@ GRCh38/hg38 3p12.3(chr3:75522003-75654754)x3 http://identifiers.org/clinvar/151878 ^@ GRCh38/hg38 3p26.1(chr3:4952758-4989256)x3 http://identifiers.org/clinvar/151879 ^@ GRCh38/hg38 3q12.2(chr3:100951572-101083124)x1 http://identifiers.org/clinvar/151880 ^@ GRCh38/hg38 3p24.2(chr3:24295007-24410563)x1 http://identifiers.org/clinvar/151881 ^@ GRCh38/hg38 3p26.3(chr3:190813-213696)x3 http://identifiers.org/clinvar/151882 ^@ GRCh38/hg38 Yp11.32-11.31(chrY:259759-404595)x1 http://identifiers.org/clinvar/151883 ^@ GRCh38/hg38 3q13.13(chr3:110477992-110859864)x1 http://identifiers.org/clinvar/151884 ^@ GRCh38/hg38 3p12.1(chr3:85521116-85566418)x1 http://identifiers.org/clinvar/151885 ^@ GRCh38/hg38 Yq11.223(chrY:22099481-22164219)x3 http://identifiers.org/clinvar/151886 ^@ GRCh38/hg38 Yq11.223(chrY:22422160-22490799)x3 http://identifiers.org/clinvar/151887 ^@ GRCh38/hg38 Yq11.222(chrY:17461577-18864368)x4 http://identifiers.org/clinvar/151888 ^@ GRCh38/hg38 Yq11.223(chrY:21501703-21537646)x3 http://identifiers.org/clinvar/151889 ^@ GRCh38/hg38 Yq11.223(chrY:21891698-21922809)x3 http://identifiers.org/clinvar/151890 ^@ GRCh38/hg38 Yq11.223(chrY:20367367-20397626)x3 http://identifiers.org/clinvar/151891 ^@ GRCh38/hg38 Yq12(chrY:56971645-56993168)x1 http://identifiers.org/clinvar/151892 ^@ GRCh38/hg38 Yp11.2(chrY:6768680-7463286)x4 http://identifiers.org/clinvar/151893 ^@ GRCh38/hg38 Yq12(chrY:56837197-56849493)x3 http://identifiers.org/clinvar/151894 ^@ GRCh38/hg38 Yq11.223(chrY:21495366-21548911)x3 http://identifiers.org/clinvar/151895 ^@ GRCh38/hg38 Yq11.223(chrY:21495366-21548911)x1 http://identifiers.org/clinvar/151896 ^@ GRCh38/hg38 Yq11.222(chrY:17461577-18520862)x3 http://identifiers.org/clinvar/151897 ^@ GRCh38/hg38 Yq11.222(chrY:18799500-18864368)x3 http://identifiers.org/clinvar/151898 ^@ GRCh38/hg38 Yq11.223(chrY:21880447-21922809)x1 http://identifiers.org/clinvar/151899 ^@ GRCh38/hg38 Yq11.223(chrY:21880447-21922809)x3 http://identifiers.org/clinvar/151900 ^@ GRCh38/hg38 Yq11.223(chrY:22168913-22186063)x3 http://identifiers.org/clinvar/151901 ^@ GRCh38/hg38 Yq11.223(chrY:22400311-22417466)x3 http://identifiers.org/clinvar/151902 ^@ GRCh38/hg38 Yq11.221(chrY:15000339-15525000)x4 http://identifiers.org/clinvar/151903 ^@ GRCh38/hg38 Yq11.223(chrY:21497255-21548911)x3 http://identifiers.org/clinvar/151904 ^@ GRCh38/hg38 Yp11.2(chrY:7582476-7632698)x3 http://identifiers.org/clinvar/151905 ^@ GRCh38/hg38 Yq11.223(chrY:21501831-21537646)x3 http://identifiers.org/clinvar/151906 ^@ GRCh38/hg38 Yq11.223(chrY:21891757-21922868)x3 http://identifiers.org/clinvar/151907 ^@ GRCh38/hg38 Yq11.223(chrY:21992711-22091977)x3 http://identifiers.org/clinvar/151908 ^@ GRCh38/hg38 Yq11.223(chrY:22209276-22321960)x4 http://identifiers.org/clinvar/151909 ^@ GRCh38/hg38 9p21.3(chr9:24083478-24349365)x1 http://identifiers.org/clinvar/151910 ^@ GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1 http://identifiers.org/clinvar/151911 ^@ GRCh38/hg38 9q34.3(chr9:138179401-138212024)x3 http://identifiers.org/clinvar/151912 ^@ GRCh38/hg38 9q34.3(chr9:135239066-135391712)x3 http://identifiers.org/clinvar/151913 ^@ GRCh38/hg38 9p24.3(chr9:1611053-1703711)x1 http://identifiers.org/clinvar/151914 ^@ GRCh38/hg38 9p22.1(chr9:19302072-19564275)x3 http://identifiers.org/clinvar/151915 ^@ GRCh38/hg38 Yq11.223(chrY:21975562-22091977)x3 http://identifiers.org/clinvar/151916 ^@ GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 http://identifiers.org/clinvar/151917 ^@ GRCh38/hg38 9p24.1(chr9:7493625-8937453)x3 http://identifiers.org/clinvar/151918 ^@ GRCh38/hg38 9p23(chr9:11904249-11981564)x1 http://identifiers.org/clinvar/151919 ^@ GRCh38/hg38 9p21.1(chr9:30357228-30660178)x1 http://identifiers.org/clinvar/151920 ^@ GRCh38/hg38 9p23(chr9:11298130-11530555)x1 http://identifiers.org/clinvar/151921 ^@ GRCh38/hg38 9p21.1(chr9:29963346-30247396)x1 http://identifiers.org/clinvar/151922 ^@ GRCh38/hg38 9q34.3(chr9:138179401-138255955)x3 http://identifiers.org/clinvar/151923 ^@ GRCh38/hg38 9p24.1(chr9:6672380-6906978)x3 http://identifiers.org/clinvar/151924 ^@ GRCh38/hg38 Yq11.221(chrY:13988013-13991910)x3 http://identifiers.org/clinvar/151925 ^@ GRCh38/hg38 16q21(chr16:66398501-66430566)x3 http://identifiers.org/clinvar/151926 ^@ GRCh38/hg38 15q24.3(chr15:77259227-77280380)x1 http://identifiers.org/clinvar/151927 ^@ GRCh38/hg38 15q25.3(chr15:85228050-85544770)x3 http://identifiers.org/clinvar/151928 ^@ GRCh38/hg38 15q11.2(chr15:24116502-24873170)x1 http://identifiers.org/clinvar/151929 ^@ GRCh38/hg38 15q24.3(chr15:77318715-77342090)x1 http://identifiers.org/clinvar/151930 ^@ GRCh38/hg38 15q13.1(chr15:28066147-28076266)x3 http://identifiers.org/clinvar/151931 ^@ GRCh38/hg38 15q13.3(chr15:30969632-31317417)x3 http://identifiers.org/clinvar/151932 ^@ GRCh38/hg38 15q14(chr15:38154297-38507355)x3 http://identifiers.org/clinvar/151933 ^@ GRCh38/hg38 15q24.1(chr15:72629028-72665084)x3 http://identifiers.org/clinvar/151934 ^@ GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 http://identifiers.org/clinvar/151935 ^@ GRCh38/hg38 Yq11.221(chrY:14054634-14076802)x4 http://identifiers.org/clinvar/151936 ^@ GRCh38/hg38 15q24.2(chr15:75270060-75296694)x3 http://identifiers.org/clinvar/151937 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 http://identifiers.org/clinvar/151938 ^@ GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 http://identifiers.org/clinvar/151939 ^@ GRCh38/hg38 15q21.1(chr15:45712777-45832896)x1 http://identifiers.org/clinvar/151940 ^@ GRCh38/hg38 9q33.2(chr9:122546532-122628235)x3 http://identifiers.org/clinvar/151941 ^@ GRCh38/hg38 9p24.3(chr9:254654-329684)x3 http://identifiers.org/clinvar/151942 ^@ GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3 http://identifiers.org/clinvar/151943 ^@ GRCh38/hg38 9p23(chr9:11868524-11952522)x1 http://identifiers.org/clinvar/151944 ^@ GRCh38/hg38 Yq11.21(chrY:11549246-11589758)x3 http://identifiers.org/clinvar/151945 ^@ GRCh38/hg38 9q34.3(chr9:138143421-138231605)x3 http://identifiers.org/clinvar/151946 ^@ GRCh38/hg38 9p24.1(chr9:5116731-5216903)x4 http://identifiers.org/clinvar/151947 ^@ GRCh38/hg38 9q34.3(chr9:137345965-137447506)x3 http://identifiers.org/clinvar/151948 ^@ GRCh38/hg38 9q31.1(chr9:104657861-104730245)x3 http://identifiers.org/clinvar/151949 ^@ GRCh38/hg38 9q33.1(chr9:116739079-116814248)x1 http://identifiers.org/clinvar/151950 ^@ GRCh38/hg38 9p22.3(chr9:15351275-15417031)x1 http://identifiers.org/clinvar/151951 ^@ GRCh38/hg38 9q22.1(chr9:87960841-88287835)x3 http://identifiers.org/clinvar/151952 ^@ GRCh38/hg38 9p24.3(chr9:211086-314969)x3 http://identifiers.org/clinvar/151953 ^@ GRCh38/hg38 9p22.2(chr9:16626450-16917773)x3 http://identifiers.org/clinvar/151954 ^@ GRCh38/hg38 Yp11.2(chrY:9647200-9794388)x3 http://identifiers.org/clinvar/151955 ^@ GRCh38/hg38 9p13.3(chr9:34839480-34957356)x3 http://identifiers.org/clinvar/151956 ^@ GRCh38/hg38 8q11.21(chr8:47701537-47918282)x3 http://identifiers.org/clinvar/151957 ^@ GRCh38/hg38 8p23.1(chr8:8711994-8764148)x1 http://identifiers.org/clinvar/151958 ^@ GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 http://identifiers.org/clinvar/151960 ^@ GRCh38/hg38 7q35(chr7:146743098-146966208)x1 http://identifiers.org/clinvar/151961 ^@ GRCh38/hg38 Xp21.1(chrX:32267823-32372572)x0 http://identifiers.org/clinvar/151962 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 http://identifiers.org/clinvar/151963 ^@ GRCh38/hg38 Yp11.2-q11.222(chrY:2782272-17454794)x2 http://identifiers.org/clinvar/151964 ^@ GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 http://identifiers.org/clinvar/151966 ^@ GRCh38/hg38 2p16.1(chr2:58951639-59191685)x1 http://identifiers.org/clinvar/151967 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 http://identifiers.org/clinvar/151969 ^@ GRCh38/hg38 18q22.1(chr18:67442845-67937206)x1 http://identifiers.org/clinvar/151970 ^@ GRCh38/hg38 7p15.3(chr7:23423194-23635828)x1 http://identifiers.org/clinvar/151971 ^@ GRCh38/hg38 7p14.1(chr7:39251052-40641073)x1 http://identifiers.org/clinvar/151972 ^@ GRCh38/hg38 Yp11.2(chrY:1086932-1464861)x3 http://identifiers.org/clinvar/151973 ^@ GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x3 http://identifiers.org/clinvar/151977 ^@ GRCh38/hg38 22q13.33(chr22:50685063-50780581)x1 http://identifiers.org/clinvar/151979 ^@ GRCh38/hg38 7p15.2(chr7:25903388-27022498)x1 http://identifiers.org/clinvar/151982 ^@ GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3 http://identifiers.org/clinvar/151983 ^@ GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1 http://identifiers.org/clinvar/151984 ^@ GRCh38/hg38 Yp11.2(chrY:1055101-1228390)x3 http://identifiers.org/clinvar/151985 ^@ GRCh38/hg38 3q27.3-28(chr3:187897470-188570860)x3 http://identifiers.org/clinvar/151986 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1 http://identifiers.org/clinvar/151987 ^@ GRCh38/hg38 11q14.3(chr11:89613604-89898870)x1 http://identifiers.org/clinvar/151990 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3 http://identifiers.org/clinvar/151991 ^@ GRCh38/hg38 8p23.1(chr8:10095976-10148214)x1 http://identifiers.org/clinvar/151992 ^@ GRCh38/hg38 Yq11.223(chrY:21953962-22091977)x3 http://identifiers.org/clinvar/151993 ^@ GRCh38/hg38 Yq11.223(chrY:21953962-22091977)x1 http://identifiers.org/clinvar/151994 ^@ GRCh38/hg38 8p22(chr8:15545930-15551664)x1 http://identifiers.org/clinvar/151995 ^@ GRCh38/hg38 8q24.3(chr8:142763122-142880038)x3 http://identifiers.org/clinvar/151996 ^@ GRCh38/hg38 8p23.1(chr8:9186419-9254812)x1 http://identifiers.org/clinvar/151997 ^@ GRCh38/hg38 8q11.23(chr8:52554777-52875424)x3 http://identifiers.org/clinvar/151998 ^@ GRCh38/hg38 8q13.2(chr8:68813662-68899178)x3 http://identifiers.org/clinvar/151999 ^@ GRCh38/hg38 8q24.22(chr8:131483263-131554253)x3 http://identifiers.org/clinvar/152000 ^@ GRCh38/hg38 8p23.1(chr8:10202015-10254861)x1 http://identifiers.org/clinvar/152001 ^@ GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3 http://identifiers.org/clinvar/152002 ^@ GRCh38/hg38 8p23.3(chr8:137572-171006)x3 http://identifiers.org/clinvar/152003 ^@ GRCh37/hg19 8p23.3-23.2(chr8:2158515-2308926)x3 http://identifiers.org/clinvar/152004 ^@ GRCh38/hg38 9p24.1(chr9:8039875-8157531)x1 http://identifiers.org/clinvar/152005 ^@ GRCh38/hg38 8p23.1(chr8:11739235-11803434)x1 http://identifiers.org/clinvar/152006 ^@ GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 http://identifiers.org/clinvar/152007 ^@ GRCh38/hg38 8q21.3(chr8:87031681-87243497)x1 http://identifiers.org/clinvar/152008 ^@ GRCh38/hg38 8p23.3(chr8:298209-456082)x3 http://identifiers.org/clinvar/152009 ^@ GRCh38/hg38 8p23.2(chr8:4867587-4891747)x1 http://identifiers.org/clinvar/152010 ^@ GRCh38/hg38 7p22.1(chr7:5905831-5981100)x3 http://identifiers.org/clinvar/152011 ^@ GRCh38/hg38 7p22.1(chr7:5635439-5883795)x3 http://identifiers.org/clinvar/152012 ^@ GRCh38/hg38 9q21.13(chr9:72466189-72852368)x3 http://identifiers.org/clinvar/152013 ^@ GRCh38/hg38 7p14.2(chr7:35905388-35964899)x4 http://identifiers.org/clinvar/152014 ^@ GRCh38/hg38 2p16.1(chr2:59799150-60779341)x3 http://identifiers.org/clinvar/152015 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3 http://identifiers.org/clinvar/152016 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x1 http://identifiers.org/clinvar/152020 ^@ GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1 http://identifiers.org/clinvar/152021 ^@ GRCh38/hg38 9q34.3(chr9:138179401-138216026)x3 http://identifiers.org/clinvar/152022 ^@ GRCh38/hg38 16p12.2(chr16:21940058-22436900)x1 http://identifiers.org/clinvar/152023 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1 http://identifiers.org/clinvar/152024 ^@ GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 http://identifiers.org/clinvar/152030 ^@ GRCh38/hg38 9q33.2(chr9:122546532-122607645)x1 http://identifiers.org/clinvar/152031 ^@ GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 http://identifiers.org/clinvar/152032 ^@ GRCh38/hg38 Xq27.3(chrX:147908335-147911895)x0 http://identifiers.org/clinvar/152033 ^@ GRCh38/hg38 14q12(chr14:31402452-31648460)x1 http://identifiers.org/clinvar/152034 ^@ GRCh38/hg38 20p12.1(chr20:14857571-15174117)x1 http://identifiers.org/clinvar/152039 ^@ GRCh38/hg38 9p24.1(chr9:6672380-6714941)x3 http://identifiers.org/clinvar/152040 ^@ GRCh38/hg38 3q28(chr3:191142435-191604084)x1 http://identifiers.org/clinvar/152042 ^@ GRCh38/hg38 3q13.31(chr3:115165727-116083715)x1 http://identifiers.org/clinvar/152043 ^@ GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1 http://identifiers.org/clinvar/152044 ^@ GRCh38/hg38 9q22.33(chr9:97133376-97242817)x1 http://identifiers.org/clinvar/152045 ^@ GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1 http://identifiers.org/clinvar/152047 ^@ GRCh38/hg38 9q33.3(chr9:125341151-126281710)x3 http://identifiers.org/clinvar/152049 ^@ GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3 http://identifiers.org/clinvar/152050 ^@ GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 http://identifiers.org/clinvar/152051 ^@ GRCh38/hg38 9p24.3(chr9:62525-386070)x3 http://identifiers.org/clinvar/152052 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 http://identifiers.org/clinvar/152057 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 http://identifiers.org/clinvar/152058 ^@ GRCh38/hg38 9p24.2(chr9:3905362-4007557)x3 http://identifiers.org/clinvar/152059 ^@ GRCh38/hg38 7q36.3(chr7:158876520-159335866)x1 http://identifiers.org/clinvar/152061 ^@ GRCh38/hg38 6p25.3(chr6:152634-255409)x1 http://identifiers.org/clinvar/152062 ^@ GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 http://identifiers.org/clinvar/152063 ^@ GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 http://identifiers.org/clinvar/152064 ^@ GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3 http://identifiers.org/clinvar/152065 ^@ GRCh38/hg38 13q21.1(chr13:54988722-57837457)x1 http://identifiers.org/clinvar/152066 ^@ GRCh38/hg38 9p23(chr9:11573531-11868524)x1 http://identifiers.org/clinvar/152067 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1 http://identifiers.org/clinvar/152068 ^@ GRCh38/hg38 7q31.1(chr7:110967534-111452434)x1 http://identifiers.org/clinvar/152070 ^@ GRCh38/hg38 3p26.3(chr3:1172223-2177100)x1 http://identifiers.org/clinvar/152071 ^@ GRCh38/hg38 3p26.3(chr3:2195528-2387056)x3 http://identifiers.org/clinvar/152075 ^@ GRCh38/hg38 9q34.3(chr9:138150299-138200278)x3 http://identifiers.org/clinvar/152076 ^@ GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3 http://identifiers.org/clinvar/152077 ^@ GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3 http://identifiers.org/clinvar/152078 ^@ GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3 http://identifiers.org/clinvar/152080 ^@ GRCh38/hg38 7p22.2(chr7:4334387-4480136)x3 http://identifiers.org/clinvar/152081 ^@ GRCh38/hg38 7p21.1(chr7:17847049-18321295)x3 http://identifiers.org/clinvar/152082 ^@ GRCh38/hg38 7q21.3(chr7:97698133-97744122)x3 http://identifiers.org/clinvar/152083 ^@ GRCh38/hg38 7p21.3(chr7:8606335-8711498)x1 http://identifiers.org/clinvar/152084 ^@ GRCh38/hg38 7p14.3(chr7:33111046-33131474)x3 http://identifiers.org/clinvar/152085 ^@ GRCh38/hg38 2q24.2(chr2:161929447-161947461)x3 http://identifiers.org/clinvar/152086 ^@ GRCh38/hg38 9q34.3(chr9:138150299-138255955)x3 http://identifiers.org/clinvar/152087 ^@ GRCh38/hg38 7p14.1(chr7:39968852-40055511)x3 http://identifiers.org/clinvar/152088 ^@ GRCh38/hg38 7p21.2(chr7:15002609-15099804)x1 http://identifiers.org/clinvar/167608 ^@ NM_006915.2(RP2):c.352delC (p.Arg118Valfs) http://identifiers.org/clinvar/167611 ^@ NM_203288.1(RP9):c.459G>A (p.Lys153=) http://identifiers.org/clinvar/167612 ^@ NM_006013.4(RPL10):c.291C>T (p.Ile97=) http://identifiers.org/clinvar/167613 ^@ NM_002951.4(RPN2):c.540C>T (p.Ile180=) http://identifiers.org/clinvar/167616 ^@ NM_000540.2(RYR1):c.4293G>A (p.Thr1431=) http://identifiers.org/clinvar/167617 ^@ NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) http://identifiers.org/clinvar/167618 ^@ NM_000540.2(RYR1):c.6150G>A (p.Glu2050=) http://identifiers.org/clinvar/167620 ^@ NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) http://identifiers.org/clinvar/167621 ^@ NM_000540.2(RYR1):c.9456C>T (p.Phe3152=) http://identifiers.org/clinvar/167622 ^@ NM_000540.2(RYR1):c.9723C>T (p.Pro3241=) http://identifiers.org/clinvar/167623 ^@ NM_000540.2(RYR1):c.11260-19T>G http://identifiers.org/clinvar/167624 ^@ NM_000540.2(RYR1):c.12283-7C>T http://identifiers.org/clinvar/167627 ^@ NM_001035.2(RYR2):c.3808-9G>A http://identifiers.org/clinvar/167632 ^@ NM_001035.2(RYR2):c.14703G>C (p.Val4901=) http://identifiers.org/clinvar/167634 ^@ NM_000541.4(SAG):c.375+11C>T http://identifiers.org/clinvar/167635 ^@ NM_000541.4(SAG):c.436-18G>C http://identifiers.org/clinvar/167636 ^@ NM_000541.4(SAG):c.468C>T (p.Phe156=) http://identifiers.org/clinvar/167638 ^@ NM_006920.4(SCN1A):c.3777A>C (p.Lys1259Asn) http://identifiers.org/clinvar/167640 ^@ NM_006920.4(SCN1A):c.3417C>T (p.Ser1139=) http://identifiers.org/clinvar/167643 ^@ NM_006920.4(SCN1A):c.2557-2A>G http://identifiers.org/clinvar/167644 ^@ NM_001165963.1(SCN1A):c.2420dupT (p.Thr808Hisfs) http://identifiers.org/clinvar/167645 ^@ NM_006920.4(SCN1A):c.1818T>C (p.Asp606=) http://identifiers.org/clinvar/167647 ^@ NM_001165963.1(SCN1A):c.694+5G>C http://identifiers.org/clinvar/167648 ^@ NM_006920.4(SCN1A):c.657A>C (p.Arg219Ser) http://identifiers.org/clinvar/167649 ^@ NM_006922.3(SCN3A):c.4899T>A (p.Arg1633=) http://identifiers.org/clinvar/167650 ^@ NM_006922.3(SCN3A):c.2547A>C (p.Val849=) http://identifiers.org/clinvar/167651 ^@ NM_006922.3(SCN3A):c.642G>A (p.Ala214=) http://identifiers.org/clinvar/167652 ^@ NM_000334.4(SCN4A):c.3318+12C>A http://identifiers.org/clinvar/167653 ^@ NM_198056.2(SCN5A):c.4911C>T (p.Ile1637=) http://identifiers.org/clinvar/167655 ^@ NM_014191.3(SCN8A):c.3060G>A (p.Gln1020=) http://identifiers.org/clinvar/167656 ^@ NM_002977.3(SCN9A):c.4380C>T (p.Asp1460=) http://identifiers.org/clinvar/167657 ^@ NM_002977.3(SCN9A):c.4366-10_4366-7delGTTT http://identifiers.org/clinvar/167659 ^@ NM_002977.3(SCN9A):c.2072-14C>T http://identifiers.org/clinvar/167660 ^@ NM_002977.3(SCN9A):c.2072-15G>A http://identifiers.org/clinvar/167661 ^@ NM_002977.3(SCN9A):c.1942-3dupT http://identifiers.org/clinvar/167662 ^@ NM_002977.3(SCN9A):c.1398C>T (p.Ser466=) http://identifiers.org/clinvar/167663 ^@ NM_006642.3(SDCCAG8):c.267T>C (p.Ser89=) http://identifiers.org/clinvar/167669 ^@ NM_007214.4(SEC63):c.340-12G>T http://identifiers.org/clinvar/167670 ^@ NM_007214.4(SEC63):c.340-12delG http://identifiers.org/clinvar/167671 ^@ NM_007214.4(SEC63):c.109delC (p.Arg37Glufs) http://identifiers.org/clinvar/167676 ^@ NM_033517.1(SHANK3):c.2161G>A (p.Ala721Thr) http://identifiers.org/clinvar/167679 ^@ NM_000023.3(SGCA):c.*6C= http://identifiers.org/clinvar/167681 ^@ NM_000231.2(SGCG):c.860G= (p.Ser287=) http://identifiers.org/clinvar/167682 ^@ NM_000199.3(SGSH):c.664-39_664-36delCTGTinsGC http://identifiers.org/clinvar/167683 ^@ NM_000199.3(SGSH):c.81_83dupGCT (p.Leu29_Ala30insLeu) http://identifiers.org/clinvar/167684 ^@ NM_033517.1(SHANK3):c.3363C>T (p.Ser1121=) http://identifiers.org/clinvar/167685 ^@ NM_005359.5(SMAD4):c.326delTinsAAATATGAAC (p.Leu109_Cys443delinsGlnIleTer) http://identifiers.org/clinvar/167686 ^@ NM_007373.3(SHOC2):c.183A>G (p.Gln61=) http://identifiers.org/clinvar/167690 ^@ NM_005413.3(SIX3):c.942A>G (p.Ala314=) http://identifiers.org/clinvar/167692 ^@ NM_006517.4(SLC16A2):c.1596C>T (p.Ser532=) http://identifiers.org/clinvar/167693 ^@ NM_012434.4(SLC17A5):c.533delC (p.Thr178Asnfs) http://identifiers.org/clinvar/167697 ^@ NM_003060.3(SLC22A5):c.394-2A>C http://identifiers.org/clinvar/167698 ^@ NM_003060.3(SLC22A5):c.824+4A>C http://identifiers.org/clinvar/167699 ^@ NM_003060.3(SLC22A5):c.1486G>A (p.Gly496Arg) http://identifiers.org/clinvar/167700 ^@ NM_006516.2(SLC2A1):c.708C>T (p.Asp236=) http://identifiers.org/clinvar/167701 ^@ NM_006516.2(SLC2A1):c.114+7A>G http://identifiers.org/clinvar/167702 ^@ NM_001042537.1(SLC9A6):c.604-1G>A http://identifiers.org/clinvar/167703 ^@ NM_003073.4(SMARCB1):c.362+8G>A http://identifiers.org/clinvar/167704 ^@ NM_003073.4(SMARCB1):c.606C>T (p.Asp202=) http://identifiers.org/clinvar/167706 ^@ NM_001281463.1(SMC1A):c.795G>A (p.Lys265=) http://identifiers.org/clinvar/167707 ^@ NM_006306.3(SMC1A):c.699G>A (p.Val233=) http://identifiers.org/clinvar/167708 ^@ NM_000543.4(SMPD1):c.354delC (p.Ile119Serfs) http://identifiers.org/clinvar/167710 ^@ NM_000543.4(SMPD1):c.573delT (p.Ser192Alafs) http://identifiers.org/clinvar/167713 ^@ NM_014014.4(SNRNP200):c.5520C>G (p.Thr1840=) http://identifiers.org/clinvar/167718 ^@ NM_005634.2(SOX3):c.157G>C (p.Val53Leu) http://identifiers.org/clinvar/167720 ^@ NM_001130438.2(SPTAN1):c.3720-5T>G http://identifiers.org/clinvar/167722 ^@ NM_000455.4(STK11):c.921-2A>T http://identifiers.org/clinvar/167723 ^@ NM_000455.4(STK11):c.988dupG (p.Asp330Glyfs) http://identifiers.org/clinvar/167724 ^@ NM_003165.3(STXBP1):c.902+9C>A http://identifiers.org/clinvar/167725 ^@ NM_003165.3(STXBP1):c.1029+1G>T http://identifiers.org/clinvar/167726 ^@ NM_001083962.1(TCF4):c.1414delG (p.Val472Phefs) http://identifiers.org/clinvar/167727 ^@ NM_001083962.1(TCF4):c.1357dupA (p.Thr453Asnfs) http://identifiers.org/clinvar/167729 ^@ NM_001083962.1(TCF4):c.655+1G>T http://identifiers.org/clinvar/167732 ^@ NM_024809.4(TCTN2):c.1386G>T (p.Trp462Cys) http://identifiers.org/clinvar/167734 ^@ NM_001173990.2(TMEM216):c.432-11_432-10insA http://identifiers.org/clinvar/167735 ^@ NM_003282.3(TNNI2):c.354G>A (p.Ser118=) http://identifiers.org/clinvar/167736 ^@ NM_003283.5(TNNT1):c.795G= (p.Arg265=) http://identifiers.org/clinvar/167737 ^@ NM_003283.5(TNNT1):c.323C>G (p.Ser108Ter) http://identifiers.org/clinvar/167740 ^@ NM_005802.4(TOPORS):c.1953C>T (p.Ser651=) http://identifiers.org/clinvar/167741 ^@ NM_005802.4(TOPORS):c.1560A>G (p.Gln520=) http://identifiers.org/clinvar/167742 ^@ NM_003289.3(TPM2):c.773-3delC http://identifiers.org/clinvar/167743 ^@ NM_003289.3(TPM2):c.279G>T (p.Gln93His) http://identifiers.org/clinvar/167747 ^@ NM_002420.5(TRPM1):c.3483G>C (p.Gln1161His) http://identifiers.org/clinvar/167750 ^@ NM_025265.3(TSEN2):c.309G>A (p.Arg103=) http://identifiers.org/clinvar/167753 ^@ NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) http://identifiers.org/clinvar/167755 ^@ NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) http://identifiers.org/clinvar/167761 ^@ NM_001267550.2(TTN):c.96745T>C (p.Trp32249Arg) http://identifiers.org/clinvar/167763 ^@ NM_001267550.2(TTN):c.90441C>A (p.His30147Gln) http://identifiers.org/clinvar/167764 ^@ NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) http://identifiers.org/clinvar/167767 ^@ NM_133378.4(TTN):c.72849C>T (p.Phe24283=) http://identifiers.org/clinvar/167768 ^@ NM_001256850.1(TTN):c.72129C>T (p.Gly24043=) http://identifiers.org/clinvar/167769 ^@ NM_133378.4(TTN):c.68862_68864dupAAG (p.Arg22955_Ala22956insArg) http://identifiers.org/clinvar/167771 ^@ NM_001267550.2(TTN):c.72552C>T (p.Val24184=) http://identifiers.org/clinvar/167773 ^@ NM_133378.4(TTN):c.59933-4A>G http://identifiers.org/clinvar/167774 ^@ NM_001267550.2(TTN):c.66769+4_66769+7delAGTA http://identifiers.org/clinvar/167775 ^@ NM_001256850.1(TTN):c.61200A>G (p.Pro20400=) http://identifiers.org/clinvar/167778 ^@ NM_001256850.1(TTN):c.50526C>T (p.Pro16842=) http://identifiers.org/clinvar/167782 ^@ NM_001267550.2(TTN):c.46899G>A (p.Gly15633=) http://identifiers.org/clinvar/167785 ^@ NM_001267550.2(TTN):c.43623G>A (p.Ser14541=) http://identifiers.org/clinvar/167789 ^@ NM_001256850.1(TTN):c.35662_35664delGAA (p.Glu11888del) http://identifiers.org/clinvar/167791 ^@ NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu) http://identifiers.org/clinvar/167794 ^@ NM_001267550.2(TTN):c.26793A>T (p.Lys8931Asn) http://identifiers.org/clinvar/167796 ^@ NM_133378.4(TTN):c.23030-19_23030-10dupTTTGTTTTGT http://identifiers.org/clinvar/167797 ^@ NM_133378.4(TTN):c.23030-29_23030-10dup http://identifiers.org/clinvar/167799 ^@ NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) http://identifiers.org/clinvar/167800 ^@ NM_001267550.2(TTN):c.19158A>G (p.Gln6386=) http://identifiers.org/clinvar/167801 ^@ NM_001267550.2(TTN):c.17346C>T (p.Asn5782=) http://identifiers.org/clinvar/167803 ^@ NM_133378.4(TTN):c.8902+14_8902+16delTATinsA http://identifiers.org/clinvar/167804 ^@ NM_133378.4(TTN):c.8902+12_8902+13dupAA http://identifiers.org/clinvar/167807 ^@ NM_001267550.2(TTN):c.5196A>C (p.Pro1732=) http://identifiers.org/clinvar/167810 ^@ NM_001267550.2(TTN):c.2784A>G (p.Glu928=) http://identifiers.org/clinvar/167811 ^@ NM_003322.5(TULP1):c.366G>T (p.Glu122Asp) http://identifiers.org/clinvar/167812 ^@ NM_006765.3(TUSC3):c.908C>G (p.Thr303Ser) http://identifiers.org/clinvar/167813 ^@ NM_130838.1(UBE3A):c.486_487insCT (p.Glu163Leufs) http://identifiers.org/clinvar/167814 ^@ NM_206933.2(USH2A):c.6958-10A>G http://identifiers.org/clinvar/167817 ^@ NM_138959.2(VANGL1):c.435T>C (p.Cys145=) http://identifiers.org/clinvar/167819 ^@ NM_004385.4(VCAN):c.927T>C (p.Thr309=) http://identifiers.org/clinvar/167822 ^@ NM_004385.4(VCAN):c.5187G>A (p.Glu1729=) http://identifiers.org/clinvar/167824 ^@ NM_004385.4(VCAN):c.5808T>C (p.Gly1936=) http://identifiers.org/clinvar/167825 ^@ NM_004385.4(VCAN):c.5859G>T (p.Thr1953=) http://identifiers.org/clinvar/167826 ^@ NM_004385.4(VCAN):c.7065C>T (p.Ile2355=) http://identifiers.org/clinvar/167827 ^@ NM_000551.3(VHL):c.351G>T (p.Trp117Cys) http://identifiers.org/clinvar/167829 ^@ NM_015243.2(VPS13B):c.1464G>A (p.Thr488=) http://identifiers.org/clinvar/167834 ^@ NM_017890.4(VPS13B):c.9978G>A (p.Glu3326=) http://identifiers.org/clinvar/167836 ^@ NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) http://identifiers.org/clinvar/167840 ^@ NM_182894.2(VSX2):c.471C>T (p.Ser157=) http://identifiers.org/clinvar/167842 ^@ NM_025132.3(WDR19):c.1845T>C (p.Asn615=) http://identifiers.org/clinvar/167846 ^@ NM_001006657.1(WDR35):c.2857-14G>T http://identifiers.org/clinvar/167847 ^@ NM_001006657.1(WDR35):c.1215A>G (p.Thr405=) http://identifiers.org/clinvar/167848 ^@ NM_001083961.1(WDR62):c.1228G>T (p.Val410Leu) http://identifiers.org/clinvar/167849 ^@ NM_001083961.1(WDR62):c.1233+7C>G http://identifiers.org/clinvar/167851 ^@ NM_022098.3(XPNPEP3):c.590-8A>G http://identifiers.org/clinvar/167852 ^@ NM_014795.3(ZEB2):c.3533delC (p.Thr1178Argfs) http://identifiers.org/clinvar/167855 ^@ NM_014795.3(ZEB2):c.1863C>A (p.Val621=) http://identifiers.org/clinvar/167856 ^@ NM_014795.3(ZEB2):c.1218delA (p.His407Thrfs) http://identifiers.org/clinvar/167857 ^@ NM_014795.3(ZEB2):c.930C>A (p.Tyr310Ter) http://identifiers.org/clinvar/167859 ^@ NM_014795.3(ZEB2):c.304dupA (p.Ile102Asnfs) http://identifiers.org/clinvar/167861 ^@ NM_007129.3(ZIC2):c.1497C>G (p.Gly499=) http://identifiers.org/clinvar/167862 ^@ NM_005096.3(ZMYM3):c.3552G>A (p.Thr1184=) http://identifiers.org/clinvar/167863 ^@ NM_005096.3(ZMYM3):c.195C>G (p.Gly65=) http://identifiers.org/clinvar/167865 ^@ NM_021998.4(ZNF711):c.917-4_917-3dupTT http://identifiers.org/clinvar/167868 ^@ NM_005202.3(COL8A2):c.1363_1364delCAinsGT (p.Gln455Val) http://identifiers.org/clinvar/167869 ^@ NM_001256012.1(MYH10):c.2722G>T (p.Glu908Ter) http://identifiers.org/clinvar/167870 ^@ NM_001256012.1(MYH10):c.838C>T (p.Arg280Cys) http://identifiers.org/clinvar/167871 ^@ NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) http://identifiers.org/clinvar/167872 ^@ NM_003206.3(TCF21):c.63C>G (p.Asp21Glu) http://identifiers.org/clinvar/167873 ^@ NM_001080413.3(NOBOX):c.907C>T (p.Arg303Ter) http://identifiers.org/clinvar/167874 ^@ NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) http://identifiers.org/clinvar/167875 ^@ NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) http://identifiers.org/clinvar/167876 ^@ NM_001080413.3(NOBOX):c.1025G>C (p.Ser342Thr) http://identifiers.org/clinvar/167877 ^@ NM_001080413.3(NOBOX):c.1048G>T (p.Val350Leu) http://identifiers.org/clinvar/177616 ^@ NM_020436.4(SALL4):c.496dupC (p.Gln166Profs) http://identifiers.org/clinvar/177654 ^@ NM_005228.4(EGFR):c.2307_2315dupGGACAACCC (p.Pro772_His773insAspAsnPro) http://identifiers.org/clinvar/177678 ^@ NM_005228.4(EGFR):c.2300_2308dupCCAGCGTGG (p.Val769_Asp770insAlaSerVal) http://identifiers.org/clinvar/177698 ^@ NM_000256.3(MYBPC3):c.1038_1042dupCGGCA (p.Met348Thrfs) http://identifiers.org/clinvar/177712 ^@ NM_000260.3(MYO7A):c.470+1G>A http://identifiers.org/clinvar/177718 ^@ NM_000256.3(MYBPC3):c.3332_3335dupAGTG (p.Trp1112Terfs) http://identifiers.org/clinvar/177722 ^@ NM_000260.3(MYO7A):c.73G>A (p.Gly25Arg) http://identifiers.org/clinvar/177731 ^@ NM_000260.3(MYO7A):c.77C>A (p.Ala26Glu) http://identifiers.org/clinvar/177732 ^@ NM_000260.3(MYO7A):c.2476G>A (p.Ala826Thr) http://identifiers.org/clinvar/177733 ^@ NM_000260.3(MYO7A):c.2863G>A (p.Gly955Ser) http://identifiers.org/clinvar/177789 ^@ NM_000116.4(TAZ):c.657C>T (p.Asp219=) http://identifiers.org/clinvar/177794 ^@ NM_000116.4(TAZ):c.347G>A (p.Gly116Asp) http://identifiers.org/clinvar/177806 ^@ NM_000116.4(TAZ):c.-17C>T http://identifiers.org/clinvar/177815 ^@ NM_000260.3(MYO7A):c.6614_6634dup21 (p.Ser2211_Arg2212insMetSerLysGlnArgGlySer) http://identifiers.org/clinvar/177834 ^@ NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) http://identifiers.org/clinvar/177836 ^@ NM_000169.2(GLA):c.485G>T (p.Trp162Leu) http://identifiers.org/clinvar/177871 ^@ NM_000169.2(GLA):c.829T>G (p.Trp277Gly) http://identifiers.org/clinvar/177908 ^@ NM_000116.4(TAZ):c.710_711delTG (p.Val237Alafs) http://identifiers.org/clinvar/177911 ^@ NM_005228.4(EGFR):c.2311_2319dupAACCCCCAC (p.His773_Val774insAsnProHis) http://identifiers.org/clinvar/177929 ^@ NM_004985.4(KRAS):c.-48_-29dup20 http://identifiers.org/clinvar/177951 ^@ NM_000501.3(ELN):c.889+2T>C http://identifiers.org/clinvar/177955 ^@ NM_005228.4(EGFR):c.2306_2320dupTGGACAACCCCCACG (p.Val774_Cys775insAspAsnProHisVal) http://identifiers.org/clinvar/177962 ^@ NM_002290.4(LAMA4):c.3066C>T (p.Pro1022=) http://identifiers.org/clinvar/177973 ^@ NM_002290.4(LAMA4):c.1938T>C (p.Asp646=) http://identifiers.org/clinvar/177976 ^@ NM_002290.4(LAMA4):c.827_828AC= (p.Asp276=) http://identifiers.org/clinvar/177990 ^@ NM_000116.4(TAZ):c.647G>T (p.Gly216Val) http://identifiers.org/clinvar/177994 ^@ NM_002294.2(LAMP2):c.128_129dupAT (p.Ala44Metfs) http://identifiers.org/clinvar/177996 ^@ NM_000501.3(ELN):c.1208delG (p.Gly403Alafs) http://identifiers.org/clinvar/177997 ^@ NM_000501.3(ELN):c.890-2A>G http://identifiers.org/clinvar/178013 ^@ NM_001885.2(CRYAB):c.116C>T (p.Pro39Leu) http://identifiers.org/clinvar/178039 ^@ NM_002230.2(JUP):c.1989C>T (p.Arg663=) http://identifiers.org/clinvar/178040 ^@ NM_002230.2(JUP):c.1959C>T (p.Ser653=) http://identifiers.org/clinvar/178041 ^@ NM_002230.2(JUP):c.1910G>A (p.Arg637His) http://identifiers.org/clinvar/178042 ^@ NM_002230.2(JUP):c.926A>G (p.Asn309Ser) http://identifiers.org/clinvar/178043 ^@ NM_002230.2(JUP):c.633C>T (p.Asn211=) http://identifiers.org/clinvar/178044 ^@ NM_021991.2(JUP):c.530G>A (p.Arg177Gln) http://identifiers.org/clinvar/178045 ^@ NM_002290.4(LAMA4):c.5429T>C (p.Ile1810Thr) http://identifiers.org/clinvar/178046 ^@ NM_002290.4(LAMA4):c.*1C>T http://identifiers.org/clinvar/178047 ^@ NM_002290.4(LAMA4):c.5421C>T (p.Ala1807=) http://identifiers.org/clinvar/178048 ^@ NM_002290.4(LAMA4):c.4644+15G>A http://identifiers.org/clinvar/178049 ^@ NM_002290.4(LAMA4):c.5323C>T (p.Arg1775Cys) http://identifiers.org/clinvar/178050 ^@ NM_002290.4(LAMA4):c.4644+8G>T http://identifiers.org/clinvar/178051 ^@ NM_002290.4(LAMA4):c.4624A>T (p.Asn1542Tyr) http://identifiers.org/clinvar/178052 ^@ NM_002290.4(LAMA4):c.4605T>C (p.Ile1535=) http://identifiers.org/clinvar/178053 ^@ NM_002290.4(LAMA4):c.2548G>A (p.Ala850Thr) http://identifiers.org/clinvar/178054 ^@ NM_002290.4(LAMA4):c.2204A>G (p.Asn735Ser) http://identifiers.org/clinvar/178055 ^@ NM_002290.4(LAMA4):c.1647+9G>A http://identifiers.org/clinvar/178056 ^@ NM_002290.4(LAMA4):c.1014G>A (p.Thr338=) http://identifiers.org/clinvar/178057 ^@ NM_002290.4(LAMA4):c.641G>A (p.Arg214His) http://identifiers.org/clinvar/178058 ^@ NM_002290.4(LAMA4):c.465C>T (p.Cys155=) http://identifiers.org/clinvar/178285 ^@ NM_000260.3(MYO7A):c.3109-13_3109-12insTCTGGCCTCTGACATGTGCGC http://identifiers.org/clinvar/178286 ^@ NM_001614.3(ACTG1):c.684C>T (p.Ala228=) http://identifiers.org/clinvar/178287 ^@ NM_001614.3(ACTG1):c.546C>T (p.Gly182=) http://identifiers.org/clinvar/178288 ^@ NM_001199954.1(ACTG1):c.159C>T (p.Tyr53=) http://identifiers.org/clinvar/178289 ^@ NM_001692.3(ATP6V1B1):c.1320T>G (p.Ser440=) http://identifiers.org/clinvar/178290 ^@ NM_001692.3(ATP6V1B1):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/178475 ^@ NM_000260.3(MYO7A):c.448C>A (p.Arg150=) http://identifiers.org/clinvar/178476 ^@ NM_000260.3(MYO7A):c.133-14C>T http://identifiers.org/clinvar/178477 ^@ NM_000260.3(MYO7A):c.803A>G (p.Lys268Arg) http://identifiers.org/clinvar/178478 ^@ NM_000260.3(MYO7A):c.1126A>G (p.Ile376Val) http://identifiers.org/clinvar/178479 ^@ NM_000260.3(MYO7A):c.1506G>A (p.Lys502=) http://identifiers.org/clinvar/178480 ^@ NM_000260.3(MYO7A):c.1554+7C>T http://identifiers.org/clinvar/178481 ^@ NM_000260.3(MYO7A):c.1587C>T (p.Asn529=) http://identifiers.org/clinvar/178482 ^@ NM_000260.3(MYO7A):c.2587-14C>T http://identifiers.org/clinvar/178483 ^@ NM_000260.3(MYO7A):c.3086A>G (p.His1029Arg) http://identifiers.org/clinvar/178624 ^@ NM_000260.3(MYO7A):c.1798-15C>T http://identifiers.org/clinvar/178659 ^@ NM_016599.4(MYOZ2):c.561-14_561-13dupTT http://identifiers.org/clinvar/178667 ^@ NM_000260.3(MYO7A):c.1208A>G (p.Tyr403Cys) http://identifiers.org/clinvar/178714 ^@ NM_001161529.1(CSF2RA):c.50C>G (p.Ala17Gly) http://identifiers.org/clinvar/178715 ^@ NM_001161529.1(CSF2RA):c.425C>T (p.Pro142Leu) http://identifiers.org/clinvar/178716 ^@ NM_001161529.1(CSF2RA):c.561G>A (p.Thr187=) http://identifiers.org/clinvar/178717 ^@ NM_001161529.1(CSF2RA):c.999G>A (p.Val333=) http://identifiers.org/clinvar/178718 ^@ NM_001161531.1(CSF2RA):c.1153G>A (p.Gly385Ser) http://identifiers.org/clinvar/178719 ^@ NM_172246.2(CSF2RA):c.1033G>A (p.Gly345Arg) http://identifiers.org/clinvar/178841 ^@ NM_021991.2(JUP):c.2086+14G>A http://identifiers.org/clinvar/178849 ^@ NM_002230.2(JUP):c.2105G>A (p.Arg702His) http://identifiers.org/clinvar/178976 ^@ NM_000501.3(ELN):c.608delC (p.Pro203Hisfs) http://identifiers.org/clinvar/178993 ^@ NM_000260.3(MYO7A):c.689C>T (p.Ala230Val) http://identifiers.org/clinvar/178995 ^@ NM_002290.4(LAMA4):c.4384G>A (p.Ala1462Thr) http://identifiers.org/clinvar/179061 ^@ NM_000260.3(MYO7A):c.3564_3571delTGCCCGGGinsA (p.Tyr1188Terfs) http://identifiers.org/clinvar/179069 ^@ NM_000260.3(MYO7A):c.765C>T (p.Phe255=) http://identifiers.org/clinvar/179103 ^@ NM_000117.2(EMD):c.70G>A (p.Gly24Arg) http://identifiers.org/clinvar/179133 ^@ NM_000117.2(EMD):c.650_654dupTGGGC (p.Gln219Trpfs) http://identifiers.org/clinvar/179146 ^@ NM_000260.3(MYO7A):c.1903T>C (p.Cys635Arg) http://identifiers.org/clinvar/179177 ^@ NM_000169.2(GLA):c.178C>A (p.Pro60Thr) http://identifiers.org/clinvar/179186 ^@ NM_002230.2(JUP):c.1696G>A (p.Ala566Thr) http://identifiers.org/clinvar/179259 ^@ NM_001692.3(ATP6V1B1):c.785+1G>A http://identifiers.org/clinvar/179271 ^@ NM_000501.3(ELN):c.1113dupA (p.Ala372Serfs) http://identifiers.org/clinvar/179299 ^@ NM_000169.2(GLA):c.802-3_804delinsGGCAACTTT http://identifiers.org/clinvar/179302 ^@ NM_001885.2(CRYAB):c.265C>T (p.Leu89Phe) http://identifiers.org/clinvar/179306 ^@ NM_021991.2(JUP):c.1933G>A (p.Ala645Thr) http://identifiers.org/clinvar/179331 ^@ NM_000169.2(GLA):c.643A>C (p.Asn215His) http://identifiers.org/clinvar/179344 ^@ NM_001199954.1(ACTG1):c.828G>A (p.Glu276=) http://identifiers.org/clinvar/179366 ^@ NM_004316.3(ASCL1):c.184_186dupCAG (p.Gln62_Ala63insGln) http://identifiers.org/clinvar/179400 ^@ NM_033056.3(PCDH15):c.4681_4684dupAAGT (p.Ser1562Terfs) http://identifiers.org/clinvar/229652 ^@ NM_000492.3(CFTR):c.1210-34_1210-33TG[12] http://identifiers.org/clinvar/179424 ^@ NM_000492.3(CFTR):c.1210-34_1210-33TG[12] http://identifiers.org/clinvar/179428 ^@ NM_001199954.1(ACTG1):c.521C>G (p.Ala174Gly) http://identifiers.org/clinvar/179431 ^@ NM_138691.2(TMC1):c.215_219dupGGAGG (p.Arg74Glyfs) http://identifiers.org/clinvar/179474 ^@ NM_002290.4(LAMA4):c.1967T>C (p.Ile656Thr) http://identifiers.org/clinvar/179479 ^@ NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln) http://identifiers.org/clinvar/179496 ^@ NM_000117.2(EMD):c.83-2A>G http://identifiers.org/clinvar/179514 ^@ NM_000260.3(MYO7A):c.3472A>G (p.Ile1158Val) http://identifiers.org/clinvar/179521 ^@ NM_000260.3(MYO7A):c.849+7C>G http://identifiers.org/clinvar/179537 ^@ NM_000256.3(MYBPC3):c.214_215dupGG (p.Pro73Alafs) http://identifiers.org/clinvar/179538 ^@ NM_002290.4(LAMA4):c.2194G>A (p.Glu732Lys) http://identifiers.org/clinvar/179546 ^@ NM_000169.2(GLA):c.901C>G (p.Arg301Gly) http://identifiers.org/clinvar/179547 ^@ NM_021991.2(JUP):c.2086+7G>C http://identifiers.org/clinvar/179567 ^@ NM_000260.3(MYO7A):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/179579 ^@ NM_004316.3(ASCL1):c.181_186dupCAGCAG (p.Gln62_Ala63insGlnGln) http://identifiers.org/clinvar/179599 ^@ NM_001232.3(CASQ2):c.1147_1149dupGAT (p.Asp383_Asn384insAsp) http://identifiers.org/clinvar/179659 ^@ NM_000117.2(EMD):c.77T>C (p.Val26Ala) http://identifiers.org/clinvar/179673 ^@ NM_002290.4(LAMA4):c.4455-4C>A http://identifiers.org/clinvar/179682 ^@ NM_000260.3(MYO7A):c.758A>G (p.His253Arg) http://identifiers.org/clinvar/179696 ^@ NM_000169.2(GLA):c.320A>G (p.Gln107Arg) http://identifiers.org/clinvar/179756 ^@ NM_002230.2(JUP):c.56C>T (p.Thr19Ile) http://identifiers.org/clinvar/179778 ^@ NM_006005.3(WFS1):c.2555_2560dupCCCAGC (p.Gln853_Leu854insProGln) http://identifiers.org/clinvar/179789 ^@ NM_002290.4(LAMA4):c.2761C>A (p.Pro921Thr) http://identifiers.org/clinvar/179798 ^@ NM_021991.2(JUP):c.1153A>C (p.Lys385Gln) http://identifiers.org/clinvar/179827 ^@ NM_000260.3(MYO7A):c.2421C>T (p.His807=) http://identifiers.org/clinvar/179841 ^@ NM_000260.3(MYO7A):c.514C>T (p.Leu172=) http://identifiers.org/clinvar/179865 ^@ NM_000260.3(MYO7A):c.1543A>C (p.Lys515Gln) http://identifiers.org/clinvar/179915 ^@ NM_021991.2(JUP):c.1909C>T (p.Arg637Cys) http://identifiers.org/clinvar/179919 ^@ NM_001692.3(ATP6V1B1):c.370C>T (p.Arg124Trp) http://identifiers.org/clinvar/179943 ^@ NM_032119.3(ADGRV1):c.5779_5783dupACGAG (p.Ser1928Argfs) http://identifiers.org/clinvar/179974 ^@ NM_000260.3(MYO7A):c.287C>T (p.Thr96Met) http://identifiers.org/clinvar/180021 ^@ NM_000169.2(GLA):c.758T>C (p.Ile253Thr) http://identifiers.org/clinvar/180022 ^@ NM_002290.4(LAMA4):c.3413A>G (p.Asn1138Ser) http://identifiers.org/clinvar/180112 ^@ NM_002290.4(LAMA4):c.4961-3delC http://identifiers.org/clinvar/180117 ^@ NM_001614.3(ACTG1):c.364-8C>T http://identifiers.org/clinvar/242621 ^@ NM_000281.3(PCBD1):c.263G>A (p.Arg88Gln) http://identifiers.org/clinvar/242620 ^@ NM_000281.3(PCBD1):c.79G>T (p.Glu27Ter) http://identifiers.org/clinvar/180131 ^@ NC_000004.12:g.93013415_93157863del144449 http://identifiers.org/clinvar/180132 ^@ NM_001510.3(GRID2):c.530-12057_735+24661del36924 http://identifiers.org/clinvar/180133 ^@ NC_000004.12:g.92559959_92610106del50148 http://identifiers.org/clinvar/180134 ^@ NC_000004.12:g.92491792_92826931del335140 http://identifiers.org/clinvar/180135 ^@ NM_024537.3(CARS2):c.655G>A (p.Ala219Thr) http://identifiers.org/clinvar/180136 ^@ NM_152743.3(BRAT1):c.453_454insGAGAAGAT (p.Leu152Glufs) http://identifiers.org/clinvar/180137 ^@ NM_152743.3(BRAT1):c.176T>C (p.Leu59Pro) http://identifiers.org/clinvar/180138 ^@ NM_152743.3(BRAT1):c.962_963delTC (p.Leu321Profs) http://identifiers.org/clinvar/180139 ^@ NM_152743.3(BRAT1):c.1177delG (p.Ala393Leufs) http://identifiers.org/clinvar/180142 ^@ NM_000152.4(GAA):c.1004G>A (p.Gly335Glu) http://identifiers.org/clinvar/180143 ^@ NM_000152.4(GAA):c.2078dupA (p.Ala694Glyfs) http://identifiers.org/clinvar/180144 ^@ NM_000152.4(GAA):c.896T>C (p.Leu299Pro) http://identifiers.org/clinvar/180161 ^@ NM_004807.2(HS6ST1):c.1144C>T (p.Arg382Trp) http://identifiers.org/clinvar/180146 ^@ NM_017563.4(IL17RD):c.600G>A (p.Trp200Ter) http://identifiers.org/clinvar/180145 ^@ NM_017563.4(IL17RD):c.572C>T (p.Pro191Leu) http://identifiers.org/clinvar/180159 ^@ NM_001059.2(TACR3):c.623G>A (p.Trp208Ter) http://identifiers.org/clinvar/180148 ^@ NM_001059.2(TACR3):c.511G>C (p.Ala171Pro) http://identifiers.org/clinvar/180147 ^@ NM_000406.2(GNRHR):c.350T>G (p.Leu117Arg) http://identifiers.org/clinvar/180149 ^@ NM_006080.2(SEMA3A):c.2150C>T (p.Thr717Ile) http://identifiers.org/clinvar/180162 ^@ NM_023110.2(FGFR1):c.2209T>C (p.Trp737Arg) http://identifiers.org/clinvar/180160 ^@ NM_023110.2(FGFR1):c.2059G>A (p.Gly687Arg) http://identifiers.org/clinvar/180153 ^@ NM_023110.2(FGFR1):c.1916T>C (p.Ile639Thr) http://identifiers.org/clinvar/180154 ^@ NM_023110.2(FGFR1):c.1037_1038delCT (p.Ser346Tyrfs) http://identifiers.org/clinvar/180152 ^@ NM_023110.2(FGFR1):c.821A>G (p.Glu274Gly) http://identifiers.org/clinvar/180156 ^@ NM_023110.2(FGFR1):c.296A>G (p.Tyr99Cys) http://identifiers.org/clinvar/180151 ^@ NC_000012.12:g.37253847G>T http://identifiers.org/clinvar/180150 ^@ NM_013251.3(TAC3):c.248A>G (p.His83Arg) http://identifiers.org/clinvar/180155 ^@ NM_013251.3(TAC3):c.238C>A (p.Arg80Ser) http://identifiers.org/clinvar/180158 ^@ NM_144773.3(PROKR2):c.563C>T (p.Ser188Leu) http://identifiers.org/clinvar/180157 ^@ NM_000216.3(ANOS1):c.1369C>T (p.Arg457Ter) http://identifiers.org/clinvar/180167 ^@ NM_005633.3(SOS1):c.3433G>A (p.Asp1145Asn) http://identifiers.org/clinvar/180166 ^@ NM_005633.3(SOS1):c.3347-20T>G http://identifiers.org/clinvar/180164 ^@ NM_005633.3(SOS1):c.3081+32A>G http://identifiers.org/clinvar/180169 ^@ NM_005633.3(SOS1):c.3081+26G>A http://identifiers.org/clinvar/180168 ^@ NM_005633.3(SOS1):c.2964+32T>G http://identifiers.org/clinvar/180170 ^@ NM_005633.3(SOS1):c.2791+53C>T http://identifiers.org/clinvar/180174 ^@ NM_005633.3(SOS1):c.2511-13_2511-9delTTTTT http://identifiers.org/clinvar/180179 ^@ NM_005633.3(SOS1):c.720+25C>G http://identifiers.org/clinvar/180171 ^@ NM_005633.3(SOS1):c.396A>T (p.Ala132=) http://identifiers.org/clinvar/180163 ^@ NM_002834.4(PTPN11):c.15-38C>T http://identifiers.org/clinvar/180173 ^@ NM_002834.4(PTPN11):c.137+35G>A http://identifiers.org/clinvar/180172 ^@ NM_002834.4(PTPN11):c.933+25T>C http://identifiers.org/clinvar/180175 ^@ NM_002834.4(PTPN11):c.1277A>C (p.His426Pro) http://identifiers.org/clinvar/180177 ^@ NM_002834.4(PTPN11):c.1599+26G>A http://identifiers.org/clinvar/180165 ^@ NM_002834.4(PTPN11):c.1599+33A>G http://identifiers.org/clinvar/180176 ^@ NM_002834.3:c.1-140delG http://identifiers.org/clinvar/180178 ^@ NM_005633.3:c.213+15C>G http://identifiers.org/clinvar/180180 ^@ NM_004415.3(DSP):c.2874_2877+1delTAAGG http://identifiers.org/clinvar/180181 ^@ NM_004415.3(DSP):c.7248delT (p.Phe2416Leufs) http://identifiers.org/clinvar/180182 ^@ NM_006000.2(TUBA4A):c.958C>T (p.Arg320Cys) http://identifiers.org/clinvar/180183 ^@ NM_006000.2(TUBA4A):c.959G>A (p.Arg320His) http://identifiers.org/clinvar/180184 ^@ NM_006000.2(TUBA4A):c.1220G>A (p.Trp407Ter) http://identifiers.org/clinvar/180185 ^@ NM_006000.2(TUBA4A):c.643C>T (p.Arg215Cys) http://identifiers.org/clinvar/180186 ^@ NM_006000.2(TUBA4A):c.1147G>A (p.Ala383Thr) http://identifiers.org/clinvar/180187 ^@ NM_006000.2(TUBA4A):c.433A>C (p.Thr145Pro) http://identifiers.org/clinvar/180188 ^@ NM_033272.3(KCNH7):c.1181G>A (p.Arg394His) http://identifiers.org/clinvar/180192 ^@ NM_015384.4(NIPBL):c.65-3T>G http://identifiers.org/clinvar/180194 ^@ NM_015384.4(NIPBL):c.914C>A (p.Ser305Ter) http://identifiers.org/clinvar/180191 ^@ NM_015384.4(NIPBL):c.1801delA (p.Lys603Serfs) http://identifiers.org/clinvar/180190 ^@ NM_015384.4(NIPBL):c.2147_2148delAA (p.Lys717Glufs) http://identifiers.org/clinvar/180193 ^@ NM_015384.4(NIPBL):c.4321G>T (p.Val1441Leu) http://identifiers.org/clinvar/180189 ^@ NM_015384.4(NIPBL):c.5212dupT (p.Ser1739Terfs) http://identifiers.org/clinvar/180196 ^@ NM_015384.4(NIPBL):c.7637T>C (p.Leu2546Pro) http://identifiers.org/clinvar/180195 ^@ NM_015384.4(NIPBL):c.7900_7937del38 (p.Glu2635Glnfs) http://identifiers.org/clinvar/180204 ^@ NM_005641.3(TAF6):c.212T>C (p.Ile71Thr) http://identifiers.org/clinvar/180203 ^@ NM_005641.3(TAF6):c.136C>T (p.Arg46Cys) http://identifiers.org/clinvar/180199 ^@ NM_005445.3(SMC3):c.2536-6_2540delTTACAGGAACT http://identifiers.org/clinvar/180201 ^@ NM_005933.3(KMT2A):c.2233C>T (p.Arg745Ter) http://identifiers.org/clinvar/180198 ^@ NM_006306.3(SMC1A):c.2974-2A>G http://identifiers.org/clinvar/180197 ^@ NM_006306.3(SMC1A):c.802_804delAAG (p.Lys268del) http://identifiers.org/clinvar/180200 ^@ NM_006306.3(SMC1A):c.121C>T (p.Leu41Phe) http://identifiers.org/clinvar/180207 ^@ NM_014795.3(ZEB2):c.289delT (p.Trp97Glyfs) http://identifiers.org/clinvar/180205 ^@ NM_153026.2(PRICKLE1):c.824C>T (p.Thr275Met) http://identifiers.org/clinvar/180210 ^@ NM_005430.3(WNT1):c.1025delC (p.Glu343Serfs) http://identifiers.org/clinvar/180208 ^@ NM_014363.5(SACS):c.3589T>C (p.Ser1197Pro) http://identifiers.org/clinvar/180211 ^@ NM_001376.4(DYNC1H1):c.3603G>T (p.Arg1201Ser) http://identifiers.org/clinvar/180213 ^@ NM_001080467.2(MYO5B):c.3276+5G>A http://identifiers.org/clinvar/180212 ^@ NM_001080467.2(MYO5B):c.2003+2T>A http://identifiers.org/clinvar/180214 ^@ NM_001083962.1(TCF4):c.1438C>T (p.Gln480Ter) http://identifiers.org/clinvar/180215 ^@ NM_003688.3(CASK):c.1976G>A (p.Gly659Asp) http://identifiers.org/clinvar/180209 ^@ NM_001110792.1(MECP2):c.520A>G (p.Arg174Gly) http://identifiers.org/clinvar/180206 ^@ NM_001927.3(DES):c.639+3_639+4delGA http://identifiers.org/clinvar/180220 ^@ NM_001301339.1(CHCHD10):c.44G>T (p.Arg15Leu) http://identifiers.org/clinvar/180221 ^@ NM_001301339.1(CHCHD10):c.197G>T (p.Gly66Val) http://identifiers.org/clinvar/242619 ^@ NM_213720.2(CHCHD10):c.43C>A (p.Arg15Ser) http://identifiers.org/clinvar/242618 ^@ NM_001301339.1(CHCHD10):c.172G>C (p.Gly58Arg) http://identifiers.org/clinvar/180223 ^@ NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del http://identifiers.org/clinvar/180224 ^@ NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del http://identifiers.org/clinvar/180225 ^@ NC_000006.12:g.(117640628_117640629)_(117958880_117958881)del http://identifiers.org/clinvar/180226 ^@ NC_000006.12:g.(117650386_117650387)_(117897556_117897557)del http://identifiers.org/clinvar/180227 ^@ NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del http://identifiers.org/clinvar/180228 ^@ NC_000006.12:g.(118088899_118115319)_(118283353_118313960)del http://identifiers.org/clinvar/180229 ^@ NM_006766.4(KAT6A):c.3385C>T (p.Arg1129Ter) http://identifiers.org/clinvar/180230 ^@ NM_006766.4(KAT6A):c.3070C>T (p.Arg1024Ter) http://identifiers.org/clinvar/180243 ^@ NC_000023.11:g.(?_40051246)_(40075180_?)del http://identifiers.org/clinvar/180244 ^@ NG_008880.1:g.127856_129265del1410 http://identifiers.org/clinvar/180245 ^@ NM_001123385.1(BCOR):c.4304_4308delCATGC (p.Pro1435Leufs) http://identifiers.org/clinvar/180246 ^@ NM_016373.3(WWOX):c.-366-?_516+?del http://identifiers.org/clinvar/180247 ^@ NM_016373.3(WWOX):c.517-?_605+?del http://identifiers.org/clinvar/180248 ^@ NM_016373.2(WWOX):c.517-?_605+?del http://identifiers.org/clinvar/180249 ^@ NM_016373.3(WWOX):c.1005G>A (p.Trp335Ter) http://identifiers.org/clinvar/180250 ^@ NM_016373.3(WWOX):c.46_49delGACG (p.Asp16Serfs) http://identifiers.org/clinvar/180251 ^@ NM_016373.3(WWOX):c.140C>G (p.Pro47Arg) http://identifiers.org/clinvar/180404 ^@ NM_170707.3(LMNA):c.710T>C (p.Phe237Ser) http://identifiers.org/clinvar/180405 ^@ NM_170707.3(LMNA):c.1381-5G>A http://identifiers.org/clinvar/180468 ^@ NM_014625.3(NPHS2):c.817G>T (p.Gly273Trp) http://identifiers.org/clinvar/180555 ^@ NM_001001430.2(TNNT2):c.853G>A (p.Gly285Arg) http://identifiers.org/clinvar/180556 ^@ NM_000364.3(TNNT2):c.869T>A (p.Val290Asp) http://identifiers.org/clinvar/180554 ^@ NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp) http://identifiers.org/clinvar/180553 ^@ NM_001276345.1(TNNT2):c.443A>G (p.Gln148Arg) http://identifiers.org/clinvar/180552 ^@ NM_001001430.2(TNNT2):c.406G>A (p.Glu136Lys) http://identifiers.org/clinvar/180536 ^@ NM_001135599.3(TGFB2):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/180476 ^@ NM_000447.2(PSEN2):c.149A>G (p.Gln50Arg) http://identifiers.org/clinvar/180522 ^@ NM_003036.3(SKI):c.1568C>T (p.Ser523Leu) http://identifiers.org/clinvar/180257 ^@ NM_001278343.1(ACTN2):c.82C>T (p.Arg28Cys) http://identifiers.org/clinvar/180258 ^@ NM_001103.3(ACTN2):c.1070G>A (p.Arg357His) http://identifiers.org/clinvar/180485 ^@ NM_001035.2(RYR2):c.1318G>A (p.Ala440Thr) http://identifiers.org/clinvar/180486 ^@ NM_001035.2(RYR2):c.1847C>T (p.Ser616Leu) http://identifiers.org/clinvar/180487 ^@ NM_001035.2(RYR2):c.2203+3_2203+4dupAC http://identifiers.org/clinvar/180488 ^@ NM_001035.2(RYR2):c.2389G>A (p.Gly797Arg) http://identifiers.org/clinvar/180489 ^@ NM_001035.2(RYR2):c.2630A>C (p.His877Pro) http://identifiers.org/clinvar/180490 ^@ NM_001035.2(RYR2):c.2951G>A (p.Ser984Asn) http://identifiers.org/clinvar/180491 ^@ NM_001035.2(RYR2):c.3049A>G (p.Thr1017Ala) http://identifiers.org/clinvar/180492 ^@ NM_001035.2(RYR2):c.3080G>A (p.Arg1027Lys) http://identifiers.org/clinvar/180493 ^@ NM_001035.2(RYR2):c.3271G>A (p.Glu1091Lys) http://identifiers.org/clinvar/180494 ^@ NM_001035.2(RYR2):c.5420G>A (p.Arg1807Gln) http://identifiers.org/clinvar/180495 ^@ NM_001035.2(RYR2):c.5732A>T (p.Gln1911Leu) http://identifiers.org/clinvar/180496 ^@ NM_001035.2(RYR2):c.6793-4G>T http://identifiers.org/clinvar/180497 ^@ NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) http://identifiers.org/clinvar/180498 ^@ NM_001035.2(RYR2):c.8209-4T>C http://identifiers.org/clinvar/180499 ^@ NM_001035.2(RYR2):c.9352G>A (p.Gly3118Arg) http://identifiers.org/clinvar/180500 ^@ NM_001035.2(RYR2):c.9923A>G (p.Asn3308Ser) http://identifiers.org/clinvar/180501 ^@ NM_001035.2(RYR2):c.10766A>C (p.Lys3589Thr) http://identifiers.org/clinvar/180502 ^@ NM_001035.2(RYR2):c.12325A>G (p.Met4109Val) http://identifiers.org/clinvar/180503 ^@ NM_001035.2(RYR2):c.12379A>C (p.Asn4127His) http://identifiers.org/clinvar/180504 ^@ NM_001035.2(RYR2):c.13759A>C (p.Ile4587Leu) http://identifiers.org/clinvar/180505 ^@ NM_001035.2(RYR2):c.14565T>G (p.Ile4855Met) http://identifiers.org/clinvar/180506 ^@ NM_001035.2(RYR2):c.14635C>A (p.Gln4879Lys) http://identifiers.org/clinvar/180507 ^@ NM_001035.2(RYR2):c.14726C>T (p.Thr4909Ile) http://identifiers.org/clinvar/180560 ^@ NM_032588.3(TRIM63):c.650A>G (p.Tyr217Cys) http://identifiers.org/clinvar/180559 ^@ NM_032588.3(TRIM63):c.143C>T (p.Ala48Val) http://identifiers.org/clinvar/180456 ^@ NM_144573.3(NEXN):c.1582G>C (p.Glu528Gln) http://identifiers.org/clinvar/180457 ^@ NM_144573.3(NEXN):c.1630delC (p.Gln544Lysfs) http://identifiers.org/clinvar/180364 ^@ NM_201555.1(FHL2):c.823T>G (p.Cys275Gly) http://identifiers.org/clinvar/180582 ^@ NM_001267550.2(TTN):c.105514_105516delTCT (p.Ser35172del) http://identifiers.org/clinvar/180581 ^@ NM_001267550.2(TTN):c.103599_103602delGAGA (p.Arg34534Asnfs) http://identifiers.org/clinvar/180580 ^@ NM_001267550.2(TTN):c.95966delA (p.Asn31989Thrfs) http://identifiers.org/clinvar/180576 ^@ NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) http://identifiers.org/clinvar/180575 ^@ NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter) http://identifiers.org/clinvar/180574 ^@ NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter) http://identifiers.org/clinvar/180573 ^@ NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) http://identifiers.org/clinvar/180572 ^@ NM_133432.3(TTN):c.30950G>A (p.Arg10317Gln) http://identifiers.org/clinvar/180570 ^@ NM_133432.3(TTN):c.26699A>G (p.Lys8900Arg) http://identifiers.org/clinvar/180579 ^@ NM_001267550.2(TTN):c.49813delG (p.Val16605Phefs) http://identifiers.org/clinvar/180568 ^@ NM_133432.3(TTN):c.19402G>A (p.Ala6468Thr) http://identifiers.org/clinvar/180567 ^@ NM_133432.3(TTN):c.18868G>A (p.Glu6290Lys) http://identifiers.org/clinvar/180578 ^@ NM_001267550.2(TTN):c.41609-2A>C http://identifiers.org/clinvar/180571 ^@ NM_133378.4(TTN):c.28999G>A (p.Glu9667Lys) http://identifiers.org/clinvar/180569 ^@ NM_133378.4(TTN):c.23117A>G (p.Tyr7706Cys) http://identifiers.org/clinvar/180566 ^@ NM_133378.4(TTN):c.11768C>A (p.Pro3923His) http://identifiers.org/clinvar/180583 ^@ NM_133379.4(TTN):c.16515_16516insA (p.Glu5506Argfs) http://identifiers.org/clinvar/180565 ^@ NM_133378.4(TTN):c.9955G>A (p.Val3319Ile) http://identifiers.org/clinvar/180577 ^@ NM_001267550.2(TTN):c.2775+4G>A http://identifiers.org/clinvar/180564 ^@ NM_133379.4(TTN):c.2227G>A (p.Ala743Thr) http://identifiers.org/clinvar/180295 ^@ NM_000090.3(COL3A1):c.911C>A (p.Ala304Asp) http://identifiers.org/clinvar/180297 ^@ NM_000090.3(COL3A1):c.1869+6T>G http://identifiers.org/clinvar/180296 ^@ NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln) http://identifiers.org/clinvar/180305 ^@ NM_000393.4(COL5A2):c.3794A>G (p.Asp1265Gly) http://identifiers.org/clinvar/180304 ^@ NM_000393.4(COL5A2):c.2795T>C (p.Leu932Pro) http://identifiers.org/clinvar/180303 ^@ NM_000393.4(COL5A2):c.2011C>T (p.Pro671Ser) http://identifiers.org/clinvar/180302 ^@ NM_000393.4(COL5A2):c.1693G>C (p.Glu565Gln) http://identifiers.org/clinvar/180301 ^@ NM_000393.4(COL5A2):c.271G>C (p.Glu91Gln) http://identifiers.org/clinvar/180279 ^@ NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) http://identifiers.org/clinvar/180278 ^@ NM_000384.2(APOB):c.10187C>A (p.Ala3396Asp) http://identifiers.org/clinvar/180277 ^@ NM_000384.2(APOB):c.7825A>G (p.Lys2609Glu) http://identifiers.org/clinvar/180280 ^@ NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) http://identifiers.org/clinvar/180531 ^@ NM_005633.3(SOS1):c.1352C>A (p.Thr451Lys) http://identifiers.org/clinvar/180446 ^@ NM_053025.3(MYLK):c.4844C>T (p.Ala1615Val) http://identifiers.org/clinvar/180445 ^@ NM_053026.3(MYLK):c.4598A>G (p.Lys1533Arg) http://identifiers.org/clinvar/180444 ^@ NM_053027.3(MYLK):c.3982G>A (p.Val1328Met) http://identifiers.org/clinvar/180542 ^@ NM_024334.2(TMEM43):c.644A>C (p.His215Pro) http://identifiers.org/clinvar/180543 ^@ NM_024334.2(TMEM43):c.658C>T (p.Arg220Cys) http://identifiers.org/clinvar/180544 ^@ NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) http://identifiers.org/clinvar/180545 ^@ NM_024334.2(TMEM43):c.865G>A (p.Gly289Arg) http://identifiers.org/clinvar/180546 ^@ NM_024334.2(TMEM43):c.1059C>G (p.Phe353Leu) http://identifiers.org/clinvar/180540 ^@ NM_003242.5(TGFBR2):c.1277C>T (p.Ala426Val) http://identifiers.org/clinvar/180541 ^@ NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn) http://identifiers.org/clinvar/180369 ^@ NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys) http://identifiers.org/clinvar/180518 ^@ NM_198056.2(SCN5A):c.5801G>A (p.Ser1934Asn) http://identifiers.org/clinvar/180517 ^@ NM_000335.4(SCN5A):c.5668C>G (p.Pro1890Ala) http://identifiers.org/clinvar/180516 ^@ NM_000335.4(SCN5A):c.3914G>A (p.Arg1305His) http://identifiers.org/clinvar/180515 ^@ NM_001099405.1(SCN5A):c.3374C>G (p.Ala1125Gly) http://identifiers.org/clinvar/180514 ^@ NM_001099404.1(SCN5A):c.1975C>T (p.Arg659Trp) http://identifiers.org/clinvar/180513 ^@ NM_001099405.1(SCN5A):c.1840C>T (p.Pro614Ser) http://identifiers.org/clinvar/180521 ^@ NM_000335.4(SCN5A):c.1714_1715delGCinsTT (p.Ala572Phe) http://identifiers.org/clinvar/180512 ^@ NM_001099404.1(SCN5A):c.1598G>A (p.Arg533His) http://identifiers.org/clinvar/180520 ^@ NM_001099404.1(SCN5A):c.1140+1G>A http://identifiers.org/clinvar/180511 ^@ NM_000335.4(SCN5A):c.413T>C (p.Met138Thr) http://identifiers.org/clinvar/180519 ^@ NM_000335.4(SCN5A):c.393-5C>A http://identifiers.org/clinvar/180510 ^@ NM_000335.4(SCN5A):c.328G>A (p.Ala110Thr) http://identifiers.org/clinvar/180443 ^@ NM_000258.2(MYL3):c.482-6T>C http://identifiers.org/clinvar/180442 ^@ NM_000258.2(MYL3):c.447G>A (p.Met149Ile) http://identifiers.org/clinvar/180395 ^@ NM_002292.3(LAMB2):c.2890C>T (p.Arg964Ter) http://identifiers.org/clinvar/180550 ^@ NM_003280.2(TNNC1):c.469A>T (p.Met157Leu) http://identifiers.org/clinvar/180268 ^@ NM_001148.4(ANK2):c.2179-4A>G http://identifiers.org/clinvar/180269 ^@ NM_001148.4(ANK2):c.4744C>T (p.Arg1582Trp) http://identifiers.org/clinvar/180270 ^@ NM_001148.4(ANK2):c.6206G>A (p.Arg2069His) http://identifiers.org/clinvar/180271 ^@ NM_001148.4(ANK2):c.6584G>A (p.Ser2195Asn) http://identifiers.org/clinvar/180272 ^@ NM_001148.4(ANK2):c.7397G>A (p.Arg2466His) http://identifiers.org/clinvar/180273 ^@ NM_001148.4(ANK2):c.9173G>A (p.Arg3058His) http://identifiers.org/clinvar/180274 ^@ NM_001148.4(ANK2):c.11198_11200delGGG (p.Gly3733del) http://identifiers.org/clinvar/180470 ^@ NM_014476.5(PDLIM3):c.773G>A (p.Gly258Glu) http://identifiers.org/clinvar/180469 ^@ NM_014476.5(PDLIM3):c.476T>A (p.Ile159Asn) http://identifiers.org/clinvar/180363 ^@ NM_001999.3(FBN2):c.1351_1356delTATGGC (p.Tyr451_Gly452del) http://identifiers.org/clinvar/180393 ^@ NM_001105206.2(LAMA4):c.3506C>T (p.Pro1169Leu) http://identifiers.org/clinvar/180392 ^@ NM_001105207.2(LAMA4):c.3022G>C (p.Val1008Leu) http://identifiers.org/clinvar/180391 ^@ NM_001105206.2(LAMA4):c.2614C>G (p.Pro872Ala) http://identifiers.org/clinvar/180390 ^@ NM_001105206.2(LAMA4):c.2576C>T (p.Thr859Met) http://identifiers.org/clinvar/180394 ^@ NM_001105206.2(LAMA4):c.814+7A>C http://identifiers.org/clinvar/180389 ^@ NM_001105206.2(LAMA4):c.631A>C (p.Asn211His) http://identifiers.org/clinvar/180532 ^@ NM_182961.3(SYNE1):c.14895_14896delCA (p.His4965Glnfs) http://identifiers.org/clinvar/180322 ^@ NM_004415.3(DSP):c.1544C>T (p.Pro515Leu) http://identifiers.org/clinvar/180323 ^@ NM_004415.3(DSP):c.2260G>A (p.Glu754Lys) http://identifiers.org/clinvar/180340 ^@ NM_004415.3(DSP):c.2550_2552dupTCT (p.Leu851_Asp852insLeu) http://identifiers.org/clinvar/180324 ^@ NM_004415.3(DSP):c.2569G>A (p.Gly857Ser) http://identifiers.org/clinvar/180325 ^@ NM_004415.3(DSP):c.2644G>A (p.Glu882Lys) http://identifiers.org/clinvar/180326 ^@ NM_004415.3(DSP):c.2821C>T (p.Arg941Ter) http://identifiers.org/clinvar/180327 ^@ NM_004415.3(DSP):c.3199G>T (p.Ala1067Ser) http://identifiers.org/clinvar/180328 ^@ NM_004415.3(DSP):c.3973A>C (p.Lys1325Gln) http://identifiers.org/clinvar/180341 ^@ NM_004415.3(DSP):c.4385_4386delGCinsTT (p.Ser1462Ile) http://identifiers.org/clinvar/180329 ^@ NM_004415.3(DSP):c.4657G>A (p.Asp1553Asn) http://identifiers.org/clinvar/180330 ^@ NM_004415.3(DSP):c.4886G>T (p.Ser1629Ile) http://identifiers.org/clinvar/180331 ^@ NM_004415.3(DSP):c.4915G>A (p.Val1639Met) http://identifiers.org/clinvar/180332 ^@ NM_004415.3(DSP):c.4973C>T (p.Ser1658Phe) http://identifiers.org/clinvar/180333 ^@ NM_004415.3(DSP):c.5441G>A (p.Ser1814Asn) http://identifiers.org/clinvar/180334 ^@ NM_004415.3(DSP):c.6185A>G (p.His2062Arg) http://identifiers.org/clinvar/180335 ^@ NM_004415.3(DSP):c.6305G>C (p.Gly2102Ala) http://identifiers.org/clinvar/180336 ^@ NM_004415.3(DSP):c.6307A>G (p.Lys2103Glu) http://identifiers.org/clinvar/180343 ^@ NM_004415.3(DSP):c.6310delA (p.Thr2104Glnfs) http://identifiers.org/clinvar/180337 ^@ NM_004415.3(DSP):c.6347T>C (p.Ile2116Thr) http://identifiers.org/clinvar/180344 ^@ NM_004415.3(DSP):c.6393delA (p.Gly2133Valfs) http://identifiers.org/clinvar/180338 ^@ NM_004415.3(DSP):c.6542T>C (p.Val2181Ala) http://identifiers.org/clinvar/180339 ^@ NM_004415.3(DSP):c.6812A>C (p.Lys2271Thr) http://identifiers.org/clinvar/180385 ^@ NM_000238.3(KCNH2):c.3350G>A (p.Cys1117Tyr) http://identifiers.org/clinvar/180384 ^@ NM_000238.3(KCNH2):c.2734C>T (p.Arg912Trp) http://identifiers.org/clinvar/180383 ^@ NM_000238.3(KCNH2):c.2230C>T (p.Arg744Ter) http://identifiers.org/clinvar/180382 ^@ NM_000238.3(KCNH2):c.1067G>A (p.Arg356His) http://identifiers.org/clinvar/180381 ^@ NM_000238.3(KCNH2):c.842dupG (p.Ala282Argfs) http://identifiers.org/clinvar/180380 ^@ NM_000238.3(KCNH2):c.755G>A (p.Arg252Gln) http://identifiers.org/clinvar/180379 ^@ NM_000238.3(KCNH2):c.685G>T (p.Glu229Ter) http://identifiers.org/clinvar/180387 ^@ NM_000238.3(KCNH2):c.473-7C>T http://identifiers.org/clinvar/180386 ^@ NM_000238.3(KCNH2):c.473-7C>G http://identifiers.org/clinvar/180316 ^@ NM_130797.3(DPP6):c.2246-6G>A http://identifiers.org/clinvar/180288 ^@ NM_000722.3(CACNA2D1):c.2264G>C (p.Ser755Thr) http://identifiers.org/clinvar/180287 ^@ NM_000722.3(CACNA2D1):c.1666C>G (p.Arg556Gly) http://identifiers.org/clinvar/180259 ^@ NM_005751.4(AKAP9):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/180260 ^@ NM_005751.4(AKAP9):c.1099G>A (p.Val367Met) http://identifiers.org/clinvar/180261 ^@ NM_005751.4(AKAP9):c.1489G>T (p.Glu497Ter) http://identifiers.org/clinvar/180262 ^@ NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) http://identifiers.org/clinvar/180267 ^@ NM_005751.4(AKAP9):c.3953-3T>C http://identifiers.org/clinvar/180263 ^@ NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) http://identifiers.org/clinvar/180264 ^@ NM_005751.4(AKAP9):c.7314A>T (p.Glu2438Asp) http://identifiers.org/clinvar/180265 ^@ NM_005751.4(AKAP9):c.8345C>T (p.Thr2782Ile) http://identifiers.org/clinvar/180266 ^@ NM_005751.4(AKAP9):c.11378C>G (p.Ser3793Cys) http://identifiers.org/clinvar/180348 ^@ NM_000118.3(ENG):c.259C>T (p.Gln87Ter) http://identifiers.org/clinvar/180298 ^@ NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) http://identifiers.org/clinvar/180299 ^@ NM_000093.4(COL5A1):c.4928A>G (p.Gln1643Arg) http://identifiers.org/clinvar/180300 ^@ NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) http://identifiers.org/clinvar/180459 ^@ NM_017617.4(NOTCH1):c.4971C>G (p.Ser1657Arg) http://identifiers.org/clinvar/180458 ^@ NM_017617.4(NOTCH1):c.2521G>A (p.Gly841Ser) http://identifiers.org/clinvar/180538 ^@ NM_004612.3(TGFBR1):c.400G>A (p.Val134Met) http://identifiers.org/clinvar/180539 ^@ NM_004612.3(TGFBR1):c.1444A>G (p.Arg482Gly) http://identifiers.org/clinvar/180477 ^@ NM_001134363.2(RBM20):c.1019C>T (p.Pro340Leu) http://identifiers.org/clinvar/180478 ^@ NM_001134363.2(RBM20):c.2014G>A (p.Gly672Ser) http://identifiers.org/clinvar/180479 ^@ NM_001134363.2(RBM20):c.2089G>A (p.Gly697Arg) http://identifiers.org/clinvar/180480 ^@ NM_001134363.2(RBM20):c.2219C>T (p.Ser740Phe) http://identifiers.org/clinvar/180481 ^@ NM_001134363.2(RBM20):c.2393C>T (p.Pro798Leu) http://identifiers.org/clinvar/180483 ^@ NM_001134363.2(RBM20):c.3067G>T (p.Asp1023Tyr) http://identifiers.org/clinvar/180484 ^@ NM_001134363.2(RBM20):c.3545G>A (p.Arg1182His) http://identifiers.org/clinvar/180281 ^@ NM_004281.3(BAG3):c.322G>A (p.Val108Met) http://identifiers.org/clinvar/180282 ^@ NM_004281.3(BAG3):c.554C>T (p.Ser185Leu) http://identifiers.org/clinvar/180283 ^@ NM_004281.3(BAG3):c.1297C>T (p.Gln433Ter) http://identifiers.org/clinvar/180289 ^@ NM_201596.2(CACNB2):c.1056G>A (p.Ala352=) http://identifiers.org/clinvar/180291 ^@ NM_201571.3(CACNB2):c.1122+3A>T http://identifiers.org/clinvar/180290 ^@ NM_201571.3(CACNB2):c.1558G>A (p.Gly520Ser) http://identifiers.org/clinvar/180455 ^@ NM_006393.2(NEBL):c.503A>T (p.Gln168Leu) http://identifiers.org/clinvar/180454 ^@ NM_213569.2(NEBL):c.305C>T (p.Thr102Met) http://identifiers.org/clinvar/180475 ^@ NM_001098512.2(PRKG1):c.39G>A (p.Met13Ile) http://identifiers.org/clinvar/180313 ^@ NM_013266.3(CTNNA3):c.2588delA (p.Lys863Serfs) http://identifiers.org/clinvar/180312 ^@ NM_013266.3(CTNNA3):c.2500C>T (p.Arg834Ter) http://identifiers.org/clinvar/180311 ^@ NM_013266.3(CTNNA3):c.1031C>T (p.Ser344Leu) http://identifiers.org/clinvar/180310 ^@ NM_013266.3(CTNNA3):c.457G>C (p.Ala153Pro) http://identifiers.org/clinvar/180309 ^@ NM_013266.3(CTNNA3):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/180308 ^@ NM_013266.3(CTNNA3):c.242C>T (p.Thr81Ile) http://identifiers.org/clinvar/180307 ^@ NM_013266.3(CTNNA3):c.35A>T (p.Asp12Val) http://identifiers.org/clinvar/180450 ^@ NM_001256267.1(MYPN):c.101G>A (p.Arg34Gln) http://identifiers.org/clinvar/180451 ^@ NM_001256267.1(MYPN):c.3808C>G (p.Gln1270Glu) http://identifiers.org/clinvar/180452 ^@ NM_001256267.1(MYPN):c.3886T>A (p.Ser1296Thr) http://identifiers.org/clinvar/180453 ^@ NM_001256267.1(MYPN):c.3913A>G (p.Met1305Val) http://identifiers.org/clinvar/180585 ^@ NM_014000.2(VCL):c.2050A>G (p.Arg684Gly) http://identifiers.org/clinvar/180398 ^@ NM_001171611.1(LDB3):c.172G>A (p.Asp58Asn) http://identifiers.org/clinvar/180399 ^@ NM_001171610.1(LDB3):c.466G>A (p.Ala156Thr) http://identifiers.org/clinvar/180400 ^@ NM_007078.2(LDB3):c.532C>G (p.Arg178Gly) http://identifiers.org/clinvar/180401 ^@ NM_007078.2(LDB3):c.1403A>G (p.Asn468Ser) http://identifiers.org/clinvar/180276 ^@ NM_014391.2(ANKRD1):c.820T>C (p.Tyr274His) http://identifiers.org/clinvar/180275 ^@ NM_014391.2(ANKRD1):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/180294 ^@ NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) http://identifiers.org/clinvar/180586 ^@ NM_024426.4(WT1):c.749T>A (p.Met250Lys) http://identifiers.org/clinvar/180415 ^@ NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) http://identifiers.org/clinvar/180414 ^@ NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys) http://identifiers.org/clinvar/180413 ^@ NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) http://identifiers.org/clinvar/180412 ^@ NM_000256.3(MYBPC3):c.3118T>G (p.Ser1040Ala) http://identifiers.org/clinvar/180411 ^@ NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp) http://identifiers.org/clinvar/180410 ^@ NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly) http://identifiers.org/clinvar/180409 ^@ NM_000256.3(MYBPC3):c.1886T>C (p.Leu629Pro) http://identifiers.org/clinvar/180416 ^@ NM_000256.3(MYBPC3):c.1091-1G>A http://identifiers.org/clinvar/180408 ^@ NM_000256.3(MYBPC3):c.39C>G (p.Ser13Arg) http://identifiers.org/clinvar/180371 ^@ NM_001014795.2(ILK):c.157T>A (p.Leu53Met) http://identifiers.org/clinvar/180372 ^@ NM_001014795.2(ILK):c.962A>G (p.Asn321Ser) http://identifiers.org/clinvar/180373 ^@ NM_001014795.2(ILK):c.1180G>A (p.Asp394Asn) http://identifiers.org/clinvar/180388 ^@ NM_004982.3(KCNJ8):c.1182G>C (p.Arg394Ser) http://identifiers.org/clinvar/180252 ^@ NM_020297.3(ABCC9):c.4157G>A (p.Arg1386His) http://identifiers.org/clinvar/180284 ^@ NM_001129838.1(CACNA1C):c.2579G>C (p.Arg860Pro) http://identifiers.org/clinvar/180285 ^@ NM_001129838.1(CACNA1C):c.5468G>C (p.Arg1823Thr) http://identifiers.org/clinvar/180286 ^@ NM_000719.6(CACNA1C):c.5599C>T (p.Arg1867Trp) http://identifiers.org/clinvar/180474 ^@ NM_004572.3(PKP2):c.1974A>G (p.Gln658=) http://identifiers.org/clinvar/180473 ^@ NM_004572.3(PKP2):c.1079T>C (p.Leu360Pro) http://identifiers.org/clinvar/180472 ^@ NM_004572.3(PKP2):c.1045A>G (p.Met349Val) http://identifiers.org/clinvar/180471 ^@ NM_004572.3(PKP2):c.176A>T (p.Gln59Leu) http://identifiers.org/clinvar/180547 ^@ NM_003276.2(TMPO):c.248C>T (p.Ala83Val) http://identifiers.org/clinvar/180549 ^@ NM_003276.2(TMPO):c.1066A>G (p.Lys356Glu) http://identifiers.org/clinvar/180548 ^@ NM_001032284.2(TMPO):c.910G>T (p.Val304Leu) http://identifiers.org/clinvar/180374 ^@ NM_022489.3(INF2):c.149A>C (p.Tyr50Ser) http://identifiers.org/clinvar/180429 ^@ NM_002471.3(MYH6):c.5796G>A (p.Lys1932=) http://identifiers.org/clinvar/180428 ^@ NM_002471.3(MYH6):c.5780G>T (p.Arg1927Leu) http://identifiers.org/clinvar/180427 ^@ NM_002471.3(MYH6):c.4713G>T (p.Lys1571Asn) http://identifiers.org/clinvar/180426 ^@ NM_002471.3(MYH6):c.4216G>A (p.Val1406Met) http://identifiers.org/clinvar/180425 ^@ NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) http://identifiers.org/clinvar/180424 ^@ NM_002471.3(MYH6):c.3893C>T (p.Ala1298Val) http://identifiers.org/clinvar/180423 ^@ NM_002471.3(MYH6):c.2538G>C (p.Glu846Asp) http://identifiers.org/clinvar/180422 ^@ NM_002471.3(MYH6):c.1663G>A (p.Asp555Asn) http://identifiers.org/clinvar/180421 ^@ NM_002471.3(MYH6):c.182C>T (p.Ala61Val) http://identifiers.org/clinvar/180440 ^@ NM_000257.3(MYH7):c.5243G>A (p.Cys1748Tyr) http://identifiers.org/clinvar/180439 ^@ NM_000257.3(MYH7):c.4499G>A (p.Arg1500Gln) http://identifiers.org/clinvar/180438 ^@ NM_000257.3(MYH7):c.2785G>A (p.Glu929Lys) http://identifiers.org/clinvar/180437 ^@ NM_000257.3(MYH7):c.2348G>A (p.Arg783His) http://identifiers.org/clinvar/180441 ^@ NM_000257.3(MYH7):c.1888+1G>A http://identifiers.org/clinvar/180436 ^@ NM_000257.3(MYH7):c.1627G>A (p.Ala543Thr) http://identifiers.org/clinvar/180435 ^@ NM_000257.3(MYH7):c.1331A>C (p.Asn444Thr) http://identifiers.org/clinvar/180434 ^@ NM_000257.3(MYH7):c.1193G>A (p.Gly398Glu) http://identifiers.org/clinvar/180433 ^@ NM_000257.3(MYH7):c.793A>T (p.Thr265Ser) http://identifiers.org/clinvar/180432 ^@ NM_000257.3(MYH7):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/180431 ^@ NM_000257.3(MYH7):c.475G>C (p.Asp159His) http://identifiers.org/clinvar/180430 ^@ NM_000257.3(MYH7):c.298G>A (p.Ala100Thr) http://identifiers.org/clinvar/180533 ^@ NM_182914.2(SYNE2):c.9392A>G (p.Asp3131Gly) http://identifiers.org/clinvar/180534 ^@ NM_182914.2(SYNE2):c.20630C>T (p.Ser6877Phe) http://identifiers.org/clinvar/180537 ^@ NM_003239.4(TGFB3):c.*513A>G http://identifiers.org/clinvar/180256 ^@ NM_005159.4(ACTC1):c.751A>G (p.Thr251Ala) http://identifiers.org/clinvar/180255 ^@ NM_005159.4(ACTC1):c.602C>T (p.Ser201Phe) http://identifiers.org/clinvar/180254 ^@ NM_005159.4(ACTC1):c.272C>A (p.Thr91Asn) http://identifiers.org/clinvar/180360 ^@ NM_000138.4(FBN1):c.6739+2T>A http://identifiers.org/clinvar/180357 ^@ NM_000138.4(FBN1):c.5861T>G (p.Phe1954Cys) http://identifiers.org/clinvar/180356 ^@ NM_000138.4(FBN1):c.5280T>A (p.Tyr1760Ter) http://identifiers.org/clinvar/180355 ^@ NM_000138.4(FBN1):c.4526A>G (p.Tyr1509Cys) http://identifiers.org/clinvar/180354 ^@ NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) http://identifiers.org/clinvar/180362 ^@ NM_000138.4(FBN1):c.4337-1_4337delinsTA http://identifiers.org/clinvar/180359 ^@ NM_000138.4(FBN1):c.4210+1G>A http://identifiers.org/clinvar/180353 ^@ NM_000138.4(FBN1):c.3131G>A (p.Cys1044Tyr) http://identifiers.org/clinvar/180358 ^@ NM_000138.4(FBN1):c.2113+2T>C http://identifiers.org/clinvar/180352 ^@ NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) http://identifiers.org/clinvar/180351 ^@ NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) http://identifiers.org/clinvar/180361 ^@ NM_000138.4(FBN1):c.320_321delTA (p.Ile107Serfs) http://identifiers.org/clinvar/180350 ^@ NM_000138.4(FBN1):c.281G>T (p.Cys94Phe) http://identifiers.org/clinvar/180349 ^@ NM_000138.4(FBN1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/180557 ^@ NM_001018005.1(TPM1):c.77A>G (p.Glu26Gly) http://identifiers.org/clinvar/180523 ^@ NM_005902.3(SMAD3):c.169A>C (p.Thr57Pro) http://identifiers.org/clinvar/180524 ^@ NM_005902.3(SMAD3):c.860G>A (p.Arg287Gln) http://identifiers.org/clinvar/180525 ^@ NM_005902.3(SMAD3):c.871G>A (p.Gly291Arg) http://identifiers.org/clinvar/180526 ^@ NM_005902.3(SMAD3):c.1129G>A (p.Val377Ile) http://identifiers.org/clinvar/180370 ^@ NM_005477.2(HCN4):c.458A>G (p.Glu153Gly) http://identifiers.org/clinvar/180419 ^@ NM_001040114.1(MYH11):c.4694C>T (p.Thr1565Met) http://identifiers.org/clinvar/180418 ^@ NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) http://identifiers.org/clinvar/180420 ^@ NM_001040114.1(MYH11):c.3787_3789delAAG (p.Lys1263del) http://identifiers.org/clinvar/180417 ^@ NM_001040113.1(MYH11):c.2517G>C (p.Trp839Cys) http://identifiers.org/clinvar/180306 ^@ NM_001330.3(CTF1):c.347_348delCGinsGC (p.Pro116Arg) http://identifiers.org/clinvar/180535 ^@ NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) http://identifiers.org/clinvar/180378 ^@ NM_002230.2(JUP):c.1924+8G>C http://identifiers.org/clinvar/180377 ^@ NM_002230.2(JUP):c.1882G>A (p.Ala628Thr) http://identifiers.org/clinvar/180376 ^@ NM_002230.2(JUP):c.1807G>T (p.Val603Leu) http://identifiers.org/clinvar/180375 ^@ NM_002230.2(JUP):c.1366G>A (p.Val456Ile) http://identifiers.org/clinvar/180253 ^@ NM_001270447.1(ACADVL):c.52A>G (p.Ile18Val) http://identifiers.org/clinvar/180406 ^@ NM_020774.3(MIB1):c.758A>G (p.Asn253Ser) http://identifiers.org/clinvar/180407 ^@ NM_020774.3(MIB1):c.1322A>G (p.Asn441Ser) http://identifiers.org/clinvar/180449 ^@ NM_003803.3(MYOM1):c.4376T>A (p.Ile1459Lys) http://identifiers.org/clinvar/180448 ^@ NM_003803.3(MYOM1):c.3691C>T (p.Arg1231Cys) http://identifiers.org/clinvar/180318 ^@ NM_024422.4(DSC2):c.2497C>T (p.Arg833Cys) http://identifiers.org/clinvar/180319 ^@ NM_024422.4(DSC2):c.2368_2370delGGA (p.Gly790del) http://identifiers.org/clinvar/180317 ^@ NM_004949.4(DSC2):c.2197G>A (p.Ala733Thr) http://identifiers.org/clinvar/180447 ^@ NM_003803.3(MYOM1):c.1733G>A (p.Arg578His) http://identifiers.org/clinvar/180320 ^@ NM_001943.4(DSG2):c.1562A>G (p.Asp521Gly) http://identifiers.org/clinvar/180321 ^@ NM_001943.4(DSG2):c.1945G>A (p.Gly649Ser) http://identifiers.org/clinvar/180345 ^@ NM_001391.5(DTNA):c.325A>G (p.Ser109Gly) http://identifiers.org/clinvar/180346 ^@ NM_001390.4(DTNA):c.1249C>T (p.Arg417Trp) http://identifiers.org/clinvar/180403 ^@ NM_000527.4(LDLR):c.1186+1G>T http://identifiers.org/clinvar/180402 ^@ NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) http://identifiers.org/clinvar/180293 ^@ NM_145046.4(CALR3):c.679-7T>C http://identifiers.org/clinvar/180292 ^@ NM_145046.4(CALR3):c.67T>A (p.Phe23Ile) http://identifiers.org/clinvar/180508 ^@ NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) http://identifiers.org/clinvar/180509 ^@ NM_001037.4(SCN1B):c.448+112G>A http://identifiers.org/clinvar/180467 ^@ NM_004646.3(NPHS1):c.3388-1G>A http://identifiers.org/clinvar/180466 ^@ NM_004646.3(NPHS1):c.3173C>T (p.Ser1058Leu) http://identifiers.org/clinvar/180465 ^@ NM_004646.3(NPHS1):c.2873G>A (p.Gly958Glu) http://identifiers.org/clinvar/180464 ^@ NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) http://identifiers.org/clinvar/180463 ^@ NM_004646.3(NPHS1):c.1756A>G (p.Arg586Gly) http://identifiers.org/clinvar/180462 ^@ NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) http://identifiers.org/clinvar/180460 ^@ NM_004646.3(NPHS1):c.1297C>T (p.Leu433Phe) http://identifiers.org/clinvar/180561 ^@ NM_017636.3(TRPM4):c.678C>G (p.Asp226Glu) http://identifiers.org/clinvar/180562 ^@ NM_017636.3(TRPM4):c.1082T>G (p.Leu361Arg) http://identifiers.org/clinvar/180563 ^@ NM_017636.3(TRPM4):c.1682A>C (p.Asp561Ala) http://identifiers.org/clinvar/180551 ^@ NM_000363.4(TNNI3):c.522G>C (p.Lys174Asn) http://identifiers.org/clinvar/180347 ^@ NM_001972.3(ELANE):c.598-3C>G http://identifiers.org/clinvar/180530 ^@ NM_003098.2(SNTA1):c.1210G>A (p.Ala404Thr) http://identifiers.org/clinvar/180529 ^@ NM_003098.2(SNTA1):c.821G>A (p.Arg274Gln) http://identifiers.org/clinvar/180528 ^@ NM_003098.2(SNTA1):c.784A>C (p.Thr262Pro) http://identifiers.org/clinvar/180527 ^@ NM_003098.2(SNTA1):c.589C>T (p.Arg197Trp) http://identifiers.org/clinvar/180592 ^@ NM_020433.4(JPH2):c.1750C>A (p.Gln584Lys) http://identifiers.org/clinvar/180593 ^@ NM_020433.4(JPH2):c.565G>A (p.Ala189Thr) http://identifiers.org/clinvar/180368 ^@ NM_080473.4(GATA5):c.1159C>T (p.Arg387Cys) http://identifiers.org/clinvar/180367 ^@ NM_080473.4(GATA5):c.104C>T (p.Pro35Leu) http://identifiers.org/clinvar/180366 ^@ NM_080473.4(GATA5):c.8A>G (p.Gln3Arg) http://identifiers.org/clinvar/180584 ^@ NM_006440.4(TXNRD2):c.572G>A (p.Arg191Gln) http://identifiers.org/clinvar/180396 ^@ NM_002294.2(LAMP2):c.1137A>G (p.Ile379Met) http://identifiers.org/clinvar/180397 ^@ NM_002294.2(LAMP2):c.929-5T>C http://identifiers.org/clinvar/180315 ^@ NM_004006.2(DMD):c.6118-3C>A http://identifiers.org/clinvar/180314 ^@ NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) http://identifiers.org/clinvar/180587 ^@ NM_000038.5(APC):c.477delC (p.Tyr159Terfs) http://identifiers.org/clinvar/180588 ^@ NM_000057.3(BLM):c.3949G>A (p.Glu1317Lys) http://identifiers.org/clinvar/180590 ^@ NM_003002.3(SDHD):c.275A>G (p.Asp92Gly) http://identifiers.org/clinvar/180591 ^@ NM_000426.3(LAMA2):c.32T>C (p.Leu11Pro) http://identifiers.org/clinvar/180599 ^@ NM_023067.3(FOXL2):c.843_865dup23 (p.His289Argfs) http://identifiers.org/clinvar/180598 ^@ NM_023067.3(FOXL2):c.841_857dup17 (p.Pro287Argfs) http://identifiers.org/clinvar/180600 ^@ NM_023067.3(FOXL2):c.854delC (p.Pro285Argfs) http://identifiers.org/clinvar/180594 ^@ NM_023067.3(FOXL2):c.650C>T (p.Ser217Phe) http://identifiers.org/clinvar/180595 ^@ NP_075555.1:p.Ala221[14] http://identifiers.org/clinvar/180596 ^@ NP_075555.1:p.Ala221(15_24) http://identifiers.org/clinvar/180614 ^@ NM_001195422.1(GTPBP3):c.1357dupC (p.Arg453Profs) http://identifiers.org/clinvar/180615 ^@ NM_001195422.1(GTPBP3):c.1441G>A (p.Glu481Lys) http://identifiers.org/clinvar/180616 ^@ NM_001195422.1(GTPBP3):c.542A>T (p.Glu181Val) http://identifiers.org/clinvar/180617 ^@ NM_001195422.1(GTPBP3):c.1030G>C (p.Ala344Pro) http://identifiers.org/clinvar/180618 ^@ NM_001195422.1(GTPBP3):c.1075G>C (p.Asp359His) http://identifiers.org/clinvar/180619 ^@ NM_032620.3(GTPBP3):c.32_33delAAinsGTG (p.Gln11Argfs) http://identifiers.org/clinvar/180620 ^@ NM_001615.3(ACTG2):c.443G>T (p.Arg148Leu) http://identifiers.org/clinvar/180631 ^@ NM_000081.3(LYST):c.11173G>A (p.Gly3725Arg) http://identifiers.org/clinvar/180629 ^@ NM_000081.3(LYST):c.9827_9832delATACAA (p.Asn3276_Thr3277del) http://identifiers.org/clinvar/180628 ^@ NM_000081.3(LYST):c.8281A>T (p.Arg2761Ter) http://identifiers.org/clinvar/180627 ^@ NM_000081.3(LYST):c.7982C>G (p.Ser2661Ter) http://identifiers.org/clinvar/180626 ^@ NM_000081.3(LYST):c.5541_5542delAA (p.Arg1848Serfs) http://identifiers.org/clinvar/180625 ^@ NM_000081.3(LYST):c.5506C>T (p.Arg1836Ter) http://identifiers.org/clinvar/180624 ^@ NM_000081.3(LYST):c.3944dupC (p.Val1316Cysfs) http://identifiers.org/clinvar/180623 ^@ NM_000081.3(LYST):c.3622C>T (p.Gln1208Ter) http://identifiers.org/clinvar/180621 ^@ NM_000081.3(LYST):c.925C>T (p.Arg309Ter) http://identifiers.org/clinvar/180622 ^@ NM_000081.3(LYST):c.772T>C (p.Cys258Arg) http://identifiers.org/clinvar/180630 ^@ NM_000081.3(LYST):c.11102G>T (p.Cys3701Phe) http://identifiers.org/clinvar/180636 ^@ NM_005886.2(KATNB1):c.1604C>T (p.Ser535Leu) http://identifiers.org/clinvar/180637 ^@ NM_005886.2(KATNB1):c.1619T>G (p.Leu540Arg) http://identifiers.org/clinvar/180638 ^@ NM_005886.2(KATNB1):c.447delC (p.Val150Cysfs) http://identifiers.org/clinvar/180639 ^@ NM_005886.2(KATNB1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/180640 ^@ NM_005886.2(KATNB1):c.97G>T (p.Gly33Trp) http://identifiers.org/clinvar/180641 ^@ NM_005886.2(KATNB1):c.432+1G>A http://identifiers.org/clinvar/180642 ^@ NM_004315.5(ASAH1):c.898G>T (p.Gly300Ter) http://identifiers.org/clinvar/180643 ^@ NM_004315.5(ASAH1):c.504A>C (p.Lys168Asn) http://identifiers.org/clinvar/180644 ^@ NM_001242896.1(DEPDC5):c.2527C>T (p.Arg843Ter) http://identifiers.org/clinvar/180645 ^@ NM_001242896.1(DEPDC5):c.2591C>T (p.Thr864Met) http://identifiers.org/clinvar/180647 ^@ LIPE, 2-BP INS, CG http://identifiers.org/clinvar/180651 ^@ NM_000158.3(GBE1):c.1544G>A (p.Arg515His) http://identifiers.org/clinvar/180652 ^@ NM_001267609.1(GPR161):c.56T>A (p.Leu19Gln) http://identifiers.org/clinvar/180656 ^@ NM_018947.5(CYCS):c.145T>C (p.Tyr49His) http://identifiers.org/clinvar/180657 ^@ NM_004793.3(LONP1):c.2353A>G (p.Arg785Gly) http://identifiers.org/clinvar/180658 ^@ NM_004793.3(LONP1):c.2026C>T (p.Pro676Ser) http://identifiers.org/clinvar/180659 ^@ NM_004793.3(LONP1):c.1892C>A (p.Ser631Tyr) http://identifiers.org/clinvar/180660 ^@ NM_004793.3(LONP1):c.2171C>T (p.Ala724Val) http://identifiers.org/clinvar/180661 ^@ NM_002582.3(PARN):c.1148C>T (p.Ala383Val) http://identifiers.org/clinvar/180662 ^@ NM_002582.3(PARN):c.918+1G>T http://identifiers.org/clinvar/190290 ^@ NM_002582.3(PARN):c.863dupA (p.Asn288Lysfs) http://identifiers.org/clinvar/190291 ^@ NM_002582.3(PARN):c.659+4_659+7delAGTA http://identifiers.org/clinvar/180669 ^@ NG_011521.1:g.37231_37235delGTAAG http://identifiers.org/clinvar/180670 ^@ NM_025265.3(TSEN2):c.934G>A (p.Gly312Arg) http://identifiers.org/clinvar/180671 ^@ NM_001145392.1(TSEN2):c.691C>T (p.Gln231Ter) http://identifiers.org/clinvar/180672 ^@ NM_207346.2(TSEN54):c.468+2T>C http://identifiers.org/clinvar/180673 ^@ NM_001128303.1(LACC1):c.850T>C (p.Cys284Arg) http://identifiers.org/clinvar/180674 ^@ NM_000732.4(CD3D):c.274+5G>A http://identifiers.org/clinvar/180675 ^@ NM_000228.2(LAMB3):c.3446_3453delGACTGGAG (p.Gly1149Glufs) http://identifiers.org/clinvar/180676 ^@ NM_000228.2(LAMB3):c.3431C>A (p.Ser1144Ter) http://identifiers.org/clinvar/180677 ^@ NM_000228.2(LAMB3):c.3394dupG (p.Glu1132Glyfs) http://identifiers.org/clinvar/180678 ^@ NM_006766.4(KAT6A):c.3879dupA (p.Glu1294Argfs) http://identifiers.org/clinvar/180683 ^@ NM_000888.4(ITGB6):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/180684 ^@ NM_000888.4(ITGB6):c.825T>A (p.His275Gln) http://identifiers.org/clinvar/180685 ^@ NM_000888.4(ITGB6):c.1846C>T (p.Arg616Ter) http://identifiers.org/clinvar/180686 ^@ NM_000888.4(ITGB6):c.586C>A (p.Pro196Thr) http://identifiers.org/clinvar/180687 ^@ NM_016356.4(DCDC2):c.649A>T (p.Lys217Ter) http://identifiers.org/clinvar/180688 ^@ NM_016356.4(DCDC2):c.123_124delGT (p.Ser42Glnfs) http://identifiers.org/clinvar/180689 ^@ NM_016356.4(DCDC2):c.349-2A>G http://identifiers.org/clinvar/180690 ^@ NM_198721.3(COL25A1):c.1144G>A (p.Gly382Arg) http://identifiers.org/clinvar/180691 ^@ NM_198721.3(COL25A1):c.1489G>T (p.Gly497Ter) http://identifiers.org/clinvar/180692 ^@ COL25A1, 12.4-KB DEL http://identifiers.org/clinvar/180693 ^@ NM_003005.3(SELP):c.775+1G>A http://identifiers.org/clinvar/180695 ^@ NM_000094.3(COL7A1):c.4980+1G>C http://identifiers.org/clinvar/180696 ^@ NM_000094.3(COL7A1):c.3504delC (p.Leu1169Terfs) http://identifiers.org/clinvar/180698 ^@ NM_007294.3(BRCA1):c.5133delA (p.Lys1711Asnfs) http://identifiers.org/clinvar/180697 ^@ NM_007294.3(BRCA1):c.4837_4838delAGinsGCC (p.Ser1613Alafs) http://identifiers.org/clinvar/180694 ^@ NM_003803.3(MYOM1):c.1900+3A>C http://identifiers.org/clinvar/180699 ^@ NM_173689.6(CRB2):c.1859G>C (p.Cys620Ser) http://identifiers.org/clinvar/180700 ^@ NM_173689.6(CRB2):c.1882C>T (p.Arg628Cys) http://identifiers.org/clinvar/180701 ^@ NM_173689.6(CRB2):c.3089_3104dup16 (p.Gly1036Alafs) http://identifiers.org/clinvar/180702 ^@ NM_173689.6(CRB2):c.1886G>C (p.Cys629Ser) http://identifiers.org/clinvar/180703 ^@ NM_173689.6(CRB2):c.3746G>A (p.Arg1249Gln) http://identifiers.org/clinvar/180704 ^@ NM_173689.6(CRB2):c.2277G>A (p.Trp759Ter) http://identifiers.org/clinvar/180705 ^@ CRB2, ASN800LYS http://identifiers.org/clinvar/180706 ^@ NM_173689.6(CRB2):c.1928A>C (p.Glu643Ala) http://identifiers.org/clinvar/180707 ^@ NM_173689.6(CRB2):c.1897C>T (p.Arg633Trp) http://identifiers.org/clinvar/180710 ^@ NC_012920.1:m.4279A>G http://identifiers.org/clinvar/180713 ^@ NM_005591.3(MRE11):c.140C>T (p.Ala47Val) http://identifiers.org/clinvar/180717 ^@ NM_002524.4(NRAS):c.562G>A (p.Val188Met) http://identifiers.org/clinvar/180722 ^@ NM_005633.3(SOS1):c.3282T>G (p.Gly1094=) http://identifiers.org/clinvar/180721 ^@ NM_005633.3(SOS1):c.2113G>A (p.Glu705Lys) http://identifiers.org/clinvar/180720 ^@ NM_005633.3(SOS1):c.1452C>A (p.Ser484Arg) http://identifiers.org/clinvar/180719 ^@ NM_005633.3(SOS1):c.1442C>T (p.Pro481Leu) http://identifiers.org/clinvar/180718 ^@ NM_002880.3(RAF1):c.1113T>C (p.Asp371=) http://identifiers.org/clinvar/180723 ^@ NM_004333.4(BRAF):c.785A>G (p.Gln262Arg) http://identifiers.org/clinvar/180714 ^@ NM_004333.4(BRAF):c.240+11G>A http://identifiers.org/clinvar/180715 ^@ NM_004985.4(KRAS):c.483A>G (p.Arg161=) http://identifiers.org/clinvar/180716 ^@ NM_002755.3(MAP2K1):c.693+10G>A http://identifiers.org/clinvar/180725 ^@ NM_020230.6(PPAN):c.190-151C>T http://identifiers.org/clinvar/180727 ^@ NM_002566.4(P2RY11):c.-203A>G http://identifiers.org/clinvar/180728 ^@ NM_002566.4(P2RY11):c.*638G>A http://identifiers.org/clinvar/180730 ^@ NM_003755.4(EIF3G):c.596-260T>C http://identifiers.org/clinvar/180748 ^@ GRCh38/hg38 12q13.2(chr12:55845043-55851177)x4 http://identifiers.org/clinvar/181461 ^@ NM_002524.4(NRAS):c.442A>G (p.Thr148Ala) http://identifiers.org/clinvar/181519 ^@ NM_001256821.1(RIT1):c.481-7C>T http://identifiers.org/clinvar/181522 ^@ NM_006912.5(RIT1):c.246T>G (p.Phe82Leu) http://identifiers.org/clinvar/181636 ^@ NM_001001430.2(TNNT2):c.861G>A (p.Trp287Ter) http://identifiers.org/clinvar/181634 ^@ NM_001001430.2(TNNT2):c.822-1G>T http://identifiers.org/clinvar/181639 ^@ NM_001001430.2(TNNT2):c.814dupC (p.Gln272Profs) http://identifiers.org/clinvar/181648 ^@ NM_001001430.2(TNNT2):c.805A>T (p.Asn269Tyr) http://identifiers.org/clinvar/181646 ^@ NM_001001430.2(TNNT2):c.794G>A (p.Arg265Gln) http://identifiers.org/clinvar/181633 ^@ NM_001001430.2(TNNT2):c.780+5G>A http://identifiers.org/clinvar/181632 ^@ NM_001001430.2(TNNT2):c.775T>C (p.Tyr259His) http://identifiers.org/clinvar/181631 ^@ NM_001001430.2(TNNT2):c.751C>A (p.Gln251Lys) http://identifiers.org/clinvar/181630 ^@ NM_001001430.2(TNNT2):c.745G>A (p.Asp249Asn) http://identifiers.org/clinvar/181645 ^@ NM_001001430.2(TNNT2):c.742T>G (p.Phe248Val) http://identifiers.org/clinvar/181629 ^@ NM_001001430.2(TNNT2):c.742T>C (p.Phe248Leu) http://identifiers.org/clinvar/181628 ^@ NM_001001430.2(TNNT2):c.737A>G (p.Glu246Gly) http://identifiers.org/clinvar/181605 ^@ NM_001001430.2(TNNT2):c.690-5T>G http://identifiers.org/clinvar/181627 ^@ NM_001001430.2(TNNT2):c.682C>G (p.Gln228Glu) http://identifiers.org/clinvar/181626 ^@ NM_001001430.2(TNNT2):c.676G>A (p.Glu226Lys) http://identifiers.org/clinvar/181604 ^@ NM_001001430.2(TNNT2):c.662T>C (p.Ile221Thr) http://identifiers.org/clinvar/181623 ^@ NM_001001430.2(TNNT2):c.569A>C (p.Lys190Thr) http://identifiers.org/clinvar/181644 ^@ NM_001001430.2(TNNT2):c.562A>G (p.Ile188Val) http://identifiers.org/clinvar/181622 ^@ NM_001001430.2(TNNT2):c.496A>G (p.Arg166Gly) http://identifiers.org/clinvar/181621 ^@ NM_001001430.2(TNNT2):c.492C>A (p.Asn164Lys) http://identifiers.org/clinvar/181638 ^@ NM_001001430.2(TNNT2):c.486_487delGGinsTT (p.Glu162_Glu163delinsAspTer) http://identifiers.org/clinvar/181620 ^@ NM_001001430.2(TNNT2):c.472C>G (p.Arg158Gly) http://identifiers.org/clinvar/181619 ^@ NM_001001430.2(TNNT2):c.460-1G>C http://identifiers.org/clinvar/181618 ^@ NM_001001430.2(TNNT2):c.443G>A (p.Arg148Gln) http://identifiers.org/clinvar/181643 ^@ NM_001001430.2(TNNT2):c.442C>T (p.Arg148Trp) http://identifiers.org/clinvar/181617 ^@ NM_001001430.2(TNNT2):c.422G>A (p.Arg141Gln) http://identifiers.org/clinvar/181635 ^@ NM_001001430.2(TNNT2):c.421delC (p.Arg141Glyfs) http://identifiers.org/clinvar/181616 ^@ NM_001001430.2(TNNT2):c.382G>A (p.Glu128Lys) http://identifiers.org/clinvar/181615 ^@ NM_001001430.2(TNNT2):c.319G>T (p.Glu107Ter) http://identifiers.org/clinvar/181614 ^@ NM_001001430.2(TNNT2):c.319G>A (p.Glu107Lys) http://identifiers.org/clinvar/181637 ^@ NM_001001430.2(TNNT2):c.274_275insTTC (p.His91_Arg92insLeu) http://identifiers.org/clinvar/181641 ^@ NM_001001430.2(TNNT2):c.239C>T (p.Pro80Leu) http://identifiers.org/clinvar/181611 ^@ NM_001001430.2(TNNT2):c.238C>A (p.Pro80Thr) http://identifiers.org/clinvar/181610 ^@ NM_001001430.2(TNNT2):c.229C>A (p.Pro77Thr) http://identifiers.org/clinvar/181609 ^@ NM_001001430.2(TNNT2):c.224T>G (p.Val75Gly) http://identifiers.org/clinvar/181608 ^@ NM_001001430.2(TNNT2):c.53-12delT http://identifiers.org/clinvar/181606 ^@ NM_001001430.2(TNNT2):c.-5A>G http://identifiers.org/clinvar/181719 ^@ NM_014795.3(ZEB2):c.3563A>G (p.His1188Arg) http://identifiers.org/clinvar/181763 ^@ NM_014795.3(ZEB2):c.3499delA (p.Ser1167Valfs) http://identifiers.org/clinvar/181748 ^@ NM_014795.3(ZEB2):c.3409G>A (p.Glu1137Lys) http://identifiers.org/clinvar/181747 ^@ NM_014795.3(ZEB2):c.3337T>A (p.Leu1113Met) http://identifiers.org/clinvar/181746 ^@ NM_014795.3(ZEB2):c.3277C>G (p.Arg1093Gly) http://identifiers.org/clinvar/181718 ^@ NM_014795.3(ZEB2):c.3201G>A (p.Ser1067=) http://identifiers.org/clinvar/181756 ^@ NM_014795.3(ZEB2):c.3195dupA (p.His1066Thrfs) http://identifiers.org/clinvar/181745 ^@ NM_014795.3(ZEB2):c.3130G>A (p.Glu1044Lys) http://identifiers.org/clinvar/181762 ^@ NM_014795.3(ZEB2):c.3073delA (p.Arg1025Aspfs) http://identifiers.org/clinvar/181755 ^@ NM_014795.3(ZEB2):c.3002delG (p.Cys1001Leufs) http://identifiers.org/clinvar/181744 ^@ NM_014795.3(ZEB2):c.2870G>A (p.Arg957Gln) http://identifiers.org/clinvar/181743 ^@ NM_014795.3(ZEB2):c.2729T>C (p.Met910Thr) http://identifiers.org/clinvar/181742 ^@ NM_014795.3(ZEB2):c.2707G>T (p.Ala903Ser) http://identifiers.org/clinvar/181741 ^@ NM_014795.3(ZEB2):c.2624T>G (p.Leu875Arg) http://identifiers.org/clinvar/181717 ^@ NM_014795.3(ZEB2):c.2495C>A (p.Ala832Asp) http://identifiers.org/clinvar/181740 ^@ NM_014795.3(ZEB2):c.2486G>A (p.Ser829Asn) http://identifiers.org/clinvar/181739 ^@ NM_014795.3(ZEB2):c.2365T>C (p.Ser789Pro) http://identifiers.org/clinvar/181716 ^@ NM_014795.3(ZEB2):c.2255C>G (p.Thr752Arg) http://identifiers.org/clinvar/181738 ^@ NM_014795.3(ZEB2):c.2248A>G (p.Ser750Gly) http://identifiers.org/clinvar/181754 ^@ NM_014795.3(ZEB2):c.2228_2229delCT (p.Ser743Tyrfs) http://identifiers.org/clinvar/181715 ^@ NM_014795.3(ZEB2):c.2215A>G (p.Ile739Val) http://identifiers.org/clinvar/181737 ^@ NM_014795.3(ZEB2):c.2084G>A (p.Arg695Gln) http://identifiers.org/clinvar/181714 ^@ NM_014795.3(ZEB2):c.1945A>C (p.Ile649Leu) http://identifiers.org/clinvar/181753 ^@ NM_014795.3(ZEB2):c.1921delT (p.Ser641Leufs) http://identifiers.org/clinvar/181713 ^@ NM_014795.3(ZEB2):c.1880T>G (p.Val627Gly) http://identifiers.org/clinvar/181736 ^@ NM_014795.3(ZEB2):c.1876G>A (p.Gly626Arg) http://identifiers.org/clinvar/181735 ^@ NM_014795.3(ZEB2):c.1735A>G (p.Thr579Ala) http://identifiers.org/clinvar/181734 ^@ NM_014795.3(ZEB2):c.1681A>G (p.Thr561Ala) http://identifiers.org/clinvar/181733 ^@ NM_014795.3(ZEB2):c.1678C>T (p.Arg560Cys) http://identifiers.org/clinvar/181712 ^@ NM_014795.3(ZEB2):c.1638C>T (p.Asp546=) http://identifiers.org/clinvar/181732 ^@ NM_014795.3(ZEB2):c.1565C>G (p.Thr522Ser) http://identifiers.org/clinvar/181731 ^@ NM_014795.3(ZEB2):c.1283T>C (p.Val428Ala) http://identifiers.org/clinvar/181711 ^@ NM_014795.3(ZEB2):c.1276T>A (p.Leu426Ile) http://identifiers.org/clinvar/181710 ^@ NM_014795.3(ZEB2):c.1048A>G (p.Thr350Ala) http://identifiers.org/clinvar/181751 ^@ NM_014795.3(ZEB2):c.997delA (p.Lys333Asnfs) http://identifiers.org/clinvar/181730 ^@ NM_014795.3(ZEB2):c.962A>C (p.His321Pro) http://identifiers.org/clinvar/181709 ^@ NM_014795.3(ZEB2):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/181708 ^@ NM_014795.3(ZEB2):c.773G>A (p.Arg258Gln) http://identifiers.org/clinvar/181707 ^@ NM_014795.3(ZEB2):c.768C>T (p.Leu256=) http://identifiers.org/clinvar/181729 ^@ NM_014795.3(ZEB2):c.730C>T (p.Pro244Ser) http://identifiers.org/clinvar/181728 ^@ NM_014795.3(ZEB2):c.664C>T (p.Arg222Cys) http://identifiers.org/clinvar/181727 ^@ NM_014795.3(ZEB2):c.477T>G (p.His159Gln) http://identifiers.org/clinvar/181726 ^@ NM_014795.3(ZEB2):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/181725 ^@ NM_014795.3(ZEB2):c.332-6C>T http://identifiers.org/clinvar/181750 ^@ NM_014795.3(ZEB2):c.314C>T (p.Ala105Val) http://identifiers.org/clinvar/181724 ^@ NM_014795.3(ZEB2):c.304A>T (p.Ile102Phe) http://identifiers.org/clinvar/181758 ^@ NM_014795.3(ZEB2):c.178_190delACGAGTCCAGCTAinsGTT (p.Thr60Valfs) http://identifiers.org/clinvar/181723 ^@ NM_014795.3(ZEB2):c.158C>A (p.Ala53Asp) http://identifiers.org/clinvar/181722 ^@ NM_014795.3(ZEB2):c.139G>T (p.Ala47Ser) http://identifiers.org/clinvar/181757 ^@ NM_014795.3(ZEB2):c.82_87delTATGAC (p.Tyr28_Asp29del) http://identifiers.org/clinvar/181761 ^@ NM_014795.3(ZEB2):c.10C>G (p.Pro4Ala) http://identifiers.org/clinvar/181721 ^@ NM_014795.3(ZEB2):c.-9C>T http://identifiers.org/clinvar/181720 ^@ NM_014795.3(ZEB2):c.-38C>G http://identifiers.org/clinvar/181545 ^@ NM_005633.3(SOS1):c.3956T>G (p.Met1319Arg) http://identifiers.org/clinvar/181557 ^@ NM_005633.3(SOS1):c.3946C>G (p.His1316Asp) http://identifiers.org/clinvar/181559 ^@ NM_005633.3(SOS1):c.3896_3898delCTC (p.Ser1299_Ser1333del) http://identifiers.org/clinvar/181533 ^@ NM_005633.3(SOS1):c.3620C>G (p.Pro1207Arg) http://identifiers.org/clinvar/181555 ^@ NM_005633.3(SOS1):c.3531C>A (p.Asp1177Glu) http://identifiers.org/clinvar/181544 ^@ NM_005633.3(SOS1):c.3412A>G (p.Ile1138Val) http://identifiers.org/clinvar/181543 ^@ NM_005633.3(SOS1):c.3329C>G (p.Ser1110Trp) http://identifiers.org/clinvar/181542 ^@ NM_005633.3(SOS1):c.3236C>T (p.Ala1079Val) http://identifiers.org/clinvar/181541 ^@ NM_005633.3(SOS1):c.3077G>A (p.Arg1026Lys) http://identifiers.org/clinvar/181540 ^@ NM_005633.3(SOS1):c.2606A>G (p.Asn869Ser) http://identifiers.org/clinvar/181539 ^@ NM_005633.3(SOS1):c.2490C>G (p.Asn830Lys) http://identifiers.org/clinvar/181538 ^@ NM_005633.3(SOS1):c.2489A>G (p.Asn830Ser) http://identifiers.org/clinvar/181537 ^@ NM_005633.3(SOS1):c.2279C>T (p.Thr760Ile) http://identifiers.org/clinvar/181553 ^@ NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys) http://identifiers.org/clinvar/181552 ^@ NM_005633.3(SOS1):c.1430A>G (p.Gln477Arg) http://identifiers.org/clinvar/181551 ^@ NM_005633.3(SOS1):c.1310T>G (p.Ile437Ser) http://identifiers.org/clinvar/181550 ^@ NM_005633.3(SOS1):c.1271A>G (p.Glu424Gly) http://identifiers.org/clinvar/181549 ^@ NM_005633.3(SOS1):c.1270G>A (p.Glu424Lys) http://identifiers.org/clinvar/181548 ^@ NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) http://identifiers.org/clinvar/181547 ^@ NM_005633.3(SOS1):c.643T>C (p.Tyr215His) http://identifiers.org/clinvar/181558 ^@ NM_005633.3(SOS1):c.199G>A (p.Ala67Thr) http://identifiers.org/clinvar/181516 ^@ NM_002880.3(RAF1):c.1939G>A (p.Val647Ile) http://identifiers.org/clinvar/181515 ^@ NM_002880.3(RAF1):c.1913C>T (p.Thr638Met) http://identifiers.org/clinvar/181514 ^@ NM_002880.3(RAF1):c.1880G>A (p.Arg627Gln) http://identifiers.org/clinvar/181513 ^@ NM_002880.3(RAF1):c.1879C>T (p.Arg627Trp) http://identifiers.org/clinvar/181512 ^@ NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) http://identifiers.org/clinvar/181518 ^@ NM_002880.3(RAF1):c.1613T>A (p.Leu538Ter) http://identifiers.org/clinvar/181505 ^@ NM_002880.3(RAF1):c.1537-3_1537-2insGATACATGT http://identifiers.org/clinvar/181511 ^@ NM_002880.3(RAF1):c.1243G>A (p.Asp415Asn) http://identifiers.org/clinvar/181509 ^@ NM_002880.3(RAF1):c.1141G>A (p.Asp381Asn) http://identifiers.org/clinvar/181510 ^@ NM_002880.3(RAF1):c.835G>A (p.Asp279Asn) http://identifiers.org/clinvar/181517 ^@ NM_002880.3(RAF1):c.785A>T (p.Asn262Ile) http://identifiers.org/clinvar/181508 ^@ NM_002880.3(RAF1):c.365T>C (p.Ile122Thr) http://identifiers.org/clinvar/181507 ^@ NM_002880.3(RAF1):c.226A>G (p.Met76Val) http://identifiers.org/clinvar/181449 ^@ NM_000258.2(MYL3):c.518T>A (p.Met173Lys) http://identifiers.org/clinvar/181444 ^@ NM_000258.2(MYL3):c.447G>T (p.Met149Ile) http://identifiers.org/clinvar/181443 ^@ NM_000258.2(MYL3):c.380C>G (p.Thr127Arg) http://identifiers.org/clinvar/181442 ^@ NM_000258.2(MYL3):c.292A>G (p.Lys98Glu) http://identifiers.org/clinvar/181448 ^@ NM_000258.2(MYL3):c.280C>T (p.Arg94Cys) http://identifiers.org/clinvar/181441 ^@ NM_000258.2(MYL3):c.220G>A (p.Gly74Arg) http://identifiers.org/clinvar/181440 ^@ NM_000258.2(MYL3):c.194C>G (p.Pro65Arg) http://identifiers.org/clinvar/181447 ^@ NM_000258.2(MYL3):c.193C>T (p.Pro65Ser) http://identifiers.org/clinvar/181439 ^@ NM_000258.2(MYL3):c.188G>C (p.Arg63Pro) http://identifiers.org/clinvar/181438 ^@ NM_000258.2(MYL3):c.184G>A (p.Asp62Asn) http://identifiers.org/clinvar/181437 ^@ NM_000258.2(MYL3):c.136T>C (p.Phe46Leu) http://identifiers.org/clinvar/181446 ^@ NM_000258.2(MYL3):c.73C>T (p.Pro25Ser) http://identifiers.org/clinvar/181445 ^@ NM_000258.2(MYL3):c.17C>G (p.Pro6Arg) http://identifiers.org/clinvar/181569 ^@ NM_003280.2(TNNC1):c.469A>C (p.Met157Leu) http://identifiers.org/clinvar/181568 ^@ NM_003280.2(TNNC1):c.446A>G (p.Asp149Gly) http://identifiers.org/clinvar/181567 ^@ NM_003280.2(TNNC1):c.430A>G (p.Asn144Asp) http://identifiers.org/clinvar/181566 ^@ NM_003280.2(TNNC1):c.376G>A (p.Glu126Lys) http://identifiers.org/clinvar/181565 ^@ NM_003280.2(TNNC1):c.304C>T (p.Arg102Cys) http://identifiers.org/clinvar/181564 ^@ NM_003280.2(TNNC1):c.290T>A (p.Leu97Gln) http://identifiers.org/clinvar/181563 ^@ NM_003280.2(TNNC1):c.262G>A (p.Asp88Asn) http://identifiers.org/clinvar/181562 ^@ NM_003280.2(TNNC1):c.191T>C (p.Val64Ala) http://identifiers.org/clinvar/181561 ^@ NM_003280.2(TNNC1):c.91G>A (p.Ala31Thr) http://identifiers.org/clinvar/181571 ^@ NM_003280.2(TNNC1):c.73G>A (p.Asp25Asn) http://identifiers.org/clinvar/181560 ^@ NM_003280.2(TNNC1):c.26T>G (p.Val9Gly) http://identifiers.org/clinvar/181570 ^@ NM_003280.2(TNNC1):c.8A>T (p.Asp3Val) http://identifiers.org/clinvar/180795 ^@ NM_033337.2(CAV3):c.-33G>T http://identifiers.org/clinvar/180803 ^@ NM_033337.2(CAV3):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/180804 ^@ NM_033337.2(CAV3):c.53A>G (p.His18Arg) http://identifiers.org/clinvar/180805 ^@ NM_033337.2(CAV3):c.88A>T (p.Lys30Ter) http://identifiers.org/clinvar/180797 ^@ NM_033337.2(CAV3):c.251T>C (p.Leu84Pro) http://identifiers.org/clinvar/180798 ^@ NM_033337.2(CAV3):c.277G>T (p.Ala93Ser) http://identifiers.org/clinvar/180799 ^@ NM_033337.2(CAV3):c.287C>G (p.Ser96Cys) http://identifiers.org/clinvar/180794 ^@ NM_033337.2(CAV3):c.402G>A (p.Ala134=) http://identifiers.org/clinvar/180800 ^@ NM_033337.2(CAV3):c.433G>A (p.Val145Met) http://identifiers.org/clinvar/180801 ^@ NM_033337.2(CAV3):c.442C>T (p.Arg148Trp) http://identifiers.org/clinvar/180802 ^@ NM_033337.2(CAV3):c.449A>T (p.Glu150Val) http://identifiers.org/clinvar/180789 ^@ NM_004333.4(BRAF):c.1785T>A (p.Phe595Leu) http://identifiers.org/clinvar/180781 ^@ NM_004333.4(BRAF):c.1742-10T>G http://identifiers.org/clinvar/180788 ^@ NM_004333.4(BRAF):c.1722C>A (p.His574Gln) http://identifiers.org/clinvar/180787 ^@ NM_004333.4(BRAF):c.1079G>A (p.Arg360Gln) http://identifiers.org/clinvar/180793 ^@ NM_004333.4(BRAF):c.1001C>T (p.Pro334Leu) http://identifiers.org/clinvar/180780 ^@ NM_004333.4(BRAF):c.981-20C>T http://identifiers.org/clinvar/180786 ^@ NM_004333.4(BRAF):c.967T>C (p.Ser323Pro) http://identifiers.org/clinvar/180785 ^@ NM_004333.4(BRAF):c.812G>A (p.Arg271His) http://identifiers.org/clinvar/180784 ^@ NM_004333.4(BRAF):c.739T>C (p.Phe247Leu) http://identifiers.org/clinvar/180764 ^@ NM_004333.4(BRAF):c.712-18T>C http://identifiers.org/clinvar/180779 ^@ NM_004333.4(BRAF):c.608+19G>C http://identifiers.org/clinvar/180783 ^@ NM_004333.4(BRAF):c.240+18A>G http://identifiers.org/clinvar/180782 ^@ NM_004333.4(BRAF):c.73C>T (p.Pro25Ser) http://identifiers.org/clinvar/180791 ^@ NM_004333.4(BRAF):c.73C>A (p.Pro25Thr) http://identifiers.org/clinvar/180790 ^@ NM_004333.4(BRAF):c.70G>A (p.Glu24Lys) http://identifiers.org/clinvar/181482 ^@ NM_016203.3(PRKAG2):c.1705G>A (p.Glu569Lys) http://identifiers.org/clinvar/181464 ^@ NM_016203.3(PRKAG2):c.1703C>T (p.Thr568Met) http://identifiers.org/clinvar/181481 ^@ NM_016203.3(PRKAG2):c.1646A>C (p.Asp549Ala) http://identifiers.org/clinvar/181480 ^@ NM_016203.3(PRKAG2):c.1471G>C (p.Asp491His) http://identifiers.org/clinvar/181479 ^@ NM_016203.3(PRKAG2):c.1367G>A (p.Arg456Gln) http://identifiers.org/clinvar/181478 ^@ NM_016203.3(PRKAG2):c.1120G>C (p.Val374Leu) http://identifiers.org/clinvar/181477 ^@ NM_016203.3(PRKAG2):c.1004T>C (p.Met335Thr) http://identifiers.org/clinvar/181490 ^@ NM_016203.3(PRKAG2):c.979C>G (p.Leu327Val) http://identifiers.org/clinvar/181476 ^@ NM_016203.3(PRKAG2):c.968T>G (p.Phe323Cys) http://identifiers.org/clinvar/181475 ^@ NM_016203.3(PRKAG2):c.946+3A>G http://identifiers.org/clinvar/181474 ^@ NM_016203.3(PRKAG2):c.893C>T (p.Ala298Val) http://identifiers.org/clinvar/181473 ^@ NM_016203.3(PRKAG2):c.866T>C (p.Val289Ala) http://identifiers.org/clinvar/181472 ^@ NM_016203.3(PRKAG2):c.865G>C (p.Val289Leu) http://identifiers.org/clinvar/181463 ^@ NM_016203.3(PRKAG2):c.712G>A (p.Ala238Thr) http://identifiers.org/clinvar/181471 ^@ NM_016203.3(PRKAG2):c.667T>A (p.Tyr223Asn) http://identifiers.org/clinvar/181470 ^@ NM_016203.3(PRKAG2):c.569G>A (p.Arg190His) http://identifiers.org/clinvar/181487 ^@ NM_016203.3(PRKAG2):c.557G>A (p.Arg186Gln) http://identifiers.org/clinvar/181469 ^@ NM_016203.3(PRKAG2):c.556C>T (p.Arg186Trp) http://identifiers.org/clinvar/181468 ^@ NM_016203.3(PRKAG2):c.526C>A (p.Pro176Thr) http://identifiers.org/clinvar/181462 ^@ NM_016203.3(PRKAG2):c.521C>A (p.Thr174Lys) http://identifiers.org/clinvar/181467 ^@ NM_016203.3(PRKAG2):c.514C>G (p.Gln172Glu) http://identifiers.org/clinvar/181485 ^@ NM_016203.3(PRKAG2):c.431C>T (p.Pro144Leu) http://identifiers.org/clinvar/181491 ^@ NM_016203.3(PRKAG2):c.346C>T (p.Arg116Cys) http://identifiers.org/clinvar/181484 ^@ NM_016203.3(PRKAG2):c.320C>T (p.Pro107Leu) http://identifiers.org/clinvar/181465 ^@ NM_016203.3(PRKAG2):c.202G>A (p.Gly68Ser) http://identifiers.org/clinvar/181483 ^@ NM_016203.3(PRKAG2):c.131C>T (p.Ala44Val) http://identifiers.org/clinvar/181466 ^@ NM_016203.3(PRKAG2):c.66C>T (p.Gly22=) http://identifiers.org/clinvar/181486 ^@ NM_016203.3(PRKAG2):c.62delG (p.Gly21Alafs) http://identifiers.org/clinvar/181526 ^@ NM_001269039.2(SHOC2):c.38A>C (p.Glu13Ala) http://identifiers.org/clinvar/181528 ^@ NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) http://identifiers.org/clinvar/181524 ^@ NM_007373.3(SHOC2):c.973-5delT http://identifiers.org/clinvar/181531 ^@ NM_007373.3(SHOC2):c.1288C>T (p.Leu430Phe) http://identifiers.org/clinvar/181532 ^@ NM_007373.3(SHOC2):c.1490C>A (p.Thr497Lys) http://identifiers.org/clinvar/181525 ^@ NM_007373.3(SHOC2):c.*3T>C http://identifiers.org/clinvar/180818 ^@ NM_005188.3(CBL):c.125A>T (p.His42Leu) http://identifiers.org/clinvar/180808 ^@ NM_005188.3(CBL):c.125_127delACC (p.His42del) http://identifiers.org/clinvar/180811 ^@ NM_005188.3(CBL):c.202C>T (p.Arg68Trp) http://identifiers.org/clinvar/180812 ^@ NM_005188.3(CBL):c.469A>G (p.Ile157Val) http://identifiers.org/clinvar/180813 ^@ NM_005188.3(CBL):c.539G>A (p.Arg180Gln) http://identifiers.org/clinvar/180825 ^@ NM_005188.3(CBL):c.976delC (p.Gln326Lysfs) http://identifiers.org/clinvar/180815 ^@ NM_005188.3(CBL):c.1096-1G>T http://identifiers.org/clinvar/180817 ^@ NM_005188.3(CBL):c.1298C>T (p.Pro433Leu) http://identifiers.org/clinvar/180819 ^@ NM_005188.3(CBL):c.1477C>T (p.Leu493Phe) http://identifiers.org/clinvar/180820 ^@ NM_005188.3(CBL):c.1754G>A (p.Arg585His) http://identifiers.org/clinvar/180821 ^@ NM_005188.3(CBL):c.1778G>A (p.Arg593Gln) http://identifiers.org/clinvar/180809 ^@ NM_005188.3(CBL):c.1829C>A (p.Thr610Lys) http://identifiers.org/clinvar/180822 ^@ NM_005188.3(CBL):c.2060C>T (p.Pro687Leu) http://identifiers.org/clinvar/180810 ^@ NM_005188.3(CBL):c.2062C>T (p.Pro688Ser) http://identifiers.org/clinvar/180823 ^@ NM_005188.3(CBL):c.2363G>A (p.Arg788Gln) http://identifiers.org/clinvar/180824 ^@ NM_005188.3(CBL):c.2503C>T (p.Arg835Trp) http://identifiers.org/clinvar/181029 ^@ NM_000256.3(MYBPC3):c.3814G>A (p.Val1272Met) http://identifiers.org/clinvar/181028 ^@ NM_000256.3(MYBPC3):c.3796T>C (p.Cys1266Arg) http://identifiers.org/clinvar/181027 ^@ NM_000256.3(MYBPC3):c.3794A>T (p.Glu1265Val) http://identifiers.org/clinvar/181026 ^@ NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) http://identifiers.org/clinvar/181025 ^@ NM_000256.3(MYBPC3):c.3779G>A (p.Gly1260Asp) http://identifiers.org/clinvar/181024 ^@ NM_000256.3(MYBPC3):c.3775C>T (p.Gln1259Ter) http://identifiers.org/clinvar/181022 ^@ NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) http://identifiers.org/clinvar/181104 ^@ NM_000256.3(MYBPC3):c.3744_3758delGGGCATCTATGTCTG (p.Gly1249_Cys1253del) http://identifiers.org/clinvar/181021 ^@ NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) http://identifiers.org/clinvar/181020 ^@ NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) http://identifiers.org/clinvar/181019 ^@ NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) http://identifiers.org/clinvar/181136 ^@ NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) http://identifiers.org/clinvar/181018 ^@ NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro) http://identifiers.org/clinvar/181017 ^@ NM_000256.3(MYBPC3):c.3679T>A (p.Phe1227Ile) http://identifiers.org/clinvar/181016 ^@ NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter) http://identifiers.org/clinvar/181015 ^@ NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) http://identifiers.org/clinvar/181014 ^@ NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln) http://identifiers.org/clinvar/181013 ^@ NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) http://identifiers.org/clinvar/181012 ^@ NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val) http://identifiers.org/clinvar/181133 ^@ NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) http://identifiers.org/clinvar/181011 ^@ NM_000256.3(MYBPC3):c.3541C>G (p.Pro1181Ala) http://identifiers.org/clinvar/181010 ^@ NM_000256.3(MYBPC3):c.3491-3C>G http://identifiers.org/clinvar/181009 ^@ NM_000256.3(MYBPC3):c.3491-3C>A http://identifiers.org/clinvar/181008 ^@ NM_000256.3(MYBPC3):c.3490+1G>T http://identifiers.org/clinvar/181103 ^@ NM_000256.3(MYBPC3):c.3472_3481delGTCTTTATCC (p.Val1158Profs) http://identifiers.org/clinvar/181156 ^@ NM_000256.3(MYBPC3):c.3467dupA (p.Pro1157Alafs) http://identifiers.org/clinvar/180920 ^@ NM_000256.3(MYBPC3):c.3431T>C (p.Met1144Thr) http://identifiers.org/clinvar/181102 ^@ NM_000256.3(MYBPC3):c.3407_3409delACT (p.Tyr1136del) http://identifiers.org/clinvar/181101 ^@ NM_000256.3(MYBPC3):c.3335_3337dupGGT (p.Trp1112_Phe1113insTrp) http://identifiers.org/clinvar/181007 ^@ NM_000256.3(MYBPC3):c.3330+2T>C http://identifiers.org/clinvar/181155 ^@ NM_000256.3(MYBPC3):c.3327delC (p.Met1110Trpfs) http://identifiers.org/clinvar/181100 ^@ NM_000256.3(MYBPC3):c.3321dupG (p.Lys1108Glufs) http://identifiers.org/clinvar/181006 ^@ NM_000256.3(MYBPC3):c.3308A>C (p.Gln1103Pro) http://identifiers.org/clinvar/181005 ^@ NM_000256.3(MYBPC3):c.3305T>A (p.Val1102Glu) http://identifiers.org/clinvar/181098 ^@ NM_000256.3(MYBPC3):c.3302_3303delCA (p.Thr1101Serfs) http://identifiers.org/clinvar/181004 ^@ NM_000256.3(MYBPC3):c.3293G>T (p.Trp1098Leu) http://identifiers.org/clinvar/181095 ^@ NM_000256.3(MYBPC3):c.3217delC (p.Arg1073Glyfs) http://identifiers.org/clinvar/181096 ^@ NM_000256.3(MYBPC3):c.3217dupC (p.Arg1073Profs) http://identifiers.org/clinvar/181003 ^@ NM_000256.3(MYBPC3):c.3190+4C>T http://identifiers.org/clinvar/181154 ^@ NM_000256.3(MYBPC3):c.3182_3190+4del http://identifiers.org/clinvar/181094 ^@ NM_000256.3(MYBPC3):c.3190+3delG http://identifiers.org/clinvar/181002 ^@ NM_000256.3(MYBPC3):c.3154A>G (p.Met1052Val) http://identifiers.org/clinvar/181001 ^@ NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=) http://identifiers.org/clinvar/181000 ^@ NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) http://identifiers.org/clinvar/180999 ^@ NM_000256.3(MYBPC3):c.3089T>C (p.Leu1030Pro) http://identifiers.org/clinvar/180998 ^@ NM_000256.3(MYBPC3):c.3086T>A (p.Ile1029Asn) http://identifiers.org/clinvar/181093 ^@ NM_000256.3(MYBPC3):c.3079delGinsAA (p.Asp1027Lysfs) http://identifiers.org/clinvar/180997 ^@ NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) http://identifiers.org/clinvar/181092 ^@ NM_000256.3(MYBPC3):c.3029_3030delAG (p.Glu1010Glyfs) http://identifiers.org/clinvar/181135 ^@ NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter) http://identifiers.org/clinvar/180996 ^@ NM_000256.3(MYBPC3):c.3019T>C (p.Trp1007Arg) http://identifiers.org/clinvar/180995 ^@ NM_000256.3(MYBPC3):c.2995-1G>A http://identifiers.org/clinvar/180993 ^@ NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) http://identifiers.org/clinvar/180992 ^@ NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) http://identifiers.org/clinvar/180991 ^@ NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) http://identifiers.org/clinvar/181153 ^@ NM_000256.3(MYBPC3):c.2894_2905+4del http://identifiers.org/clinvar/180987 ^@ NM_000256.3(MYBPC3):c.2897A>T (p.Glu966Val) http://identifiers.org/clinvar/180986 ^@ NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter) http://identifiers.org/clinvar/181131 ^@ NM_000256.3(MYBPC3):c.2876C>T (p.Thr959Met) http://identifiers.org/clinvar/180985 ^@ NM_000256.3(MYBPC3):c.2849C>T (p.Ala950Val) http://identifiers.org/clinvar/181130 ^@ NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met) http://identifiers.org/clinvar/181152 ^@ NM_000256.3(MYBPC3):c.2792dupT (p.Lys932Glufs) http://identifiers.org/clinvar/181129 ^@ NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) http://identifiers.org/clinvar/180983 ^@ NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) http://identifiers.org/clinvar/180982 ^@ NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter) http://identifiers.org/clinvar/181088 ^@ NM_000256.3(MYBPC3):c.2744delA (p.Glu915Glyfs) http://identifiers.org/clinvar/181087 ^@ NM_000256.3(MYBPC3):c.2739delC (p.Ser914Glnfs) http://identifiers.org/clinvar/181085 ^@ NM_000256.3(MYBPC3):c.2737delT (p.Cys913Alafs) http://identifiers.org/clinvar/181084 ^@ NM_000256.3(MYBPC3):c.2709_2719delCTACAGCGTGG (p.Tyr904Valfs) http://identifiers.org/clinvar/180980 ^@ NM_000256.3(MYBPC3):c.2632G>A (p.Val878Ile) http://identifiers.org/clinvar/181083 ^@ NM_000256.3(MYBPC3):c.2610delC (p.Ser871Alafs) http://identifiers.org/clinvar/181082 ^@ NM_000256.3(MYBPC3):c.2604delT (p.Ser871Alafs) http://identifiers.org/clinvar/180978 ^@ NM_000256.3(MYBPC3):c.2562G>A (p.Met854Ile) http://identifiers.org/clinvar/180977 ^@ NM_000256.3(MYBPC3):c.2551G>A (p.Ala851Thr) http://identifiers.org/clinvar/180976 ^@ NM_000256.3(MYBPC3):c.2549A>T (p.Asn850Ile) http://identifiers.org/clinvar/180975 ^@ NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly) http://identifiers.org/clinvar/181151 ^@ NM_000256.3(MYBPC3):c.2543delC (p.Ala848Glyfs) http://identifiers.org/clinvar/181081 ^@ NM_000256.3(MYBPC3):c.2532_2538delGCGCGTC (p.Met844Ilefs) http://identifiers.org/clinvar/181128 ^@ NM_000256.3(MYBPC3):c.2534G>C (p.Arg845Pro) http://identifiers.org/clinvar/180974 ^@ NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) http://identifiers.org/clinvar/181080 ^@ NM_000256.3(MYBPC3):c.2511delC (p.Ile837Metfs) http://identifiers.org/clinvar/180971 ^@ NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys) http://identifiers.org/clinvar/180970 ^@ NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) http://identifiers.org/clinvar/181079 ^@ NM_000256.3(MYBPC3):c.2455_2459delATGCG (p.Met819Alafs) http://identifiers.org/clinvar/181127 ^@ NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) http://identifiers.org/clinvar/180969 ^@ NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp) http://identifiers.org/clinvar/181150 ^@ NM_000256.3(MYBPC3):c.2382delG (p.Pro795Leufs) http://identifiers.org/clinvar/180968 ^@ NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) http://identifiers.org/clinvar/180967 ^@ NM_000256.3(MYBPC3):c.2324C>G (p.Pro775Arg) http://identifiers.org/clinvar/180919 ^@ NM_000256.3(MYBPC3):c.2309-9C>A http://identifiers.org/clinvar/180918 ^@ NM_000256.3(MYBPC3):c.2288A>G (p.Asn763Ser) http://identifiers.org/clinvar/181078 ^@ NM_000256.3(MYBPC3):c.2267delC (p.Pro756Leufs) http://identifiers.org/clinvar/180966 ^@ NM_000256.3(MYBPC3):c.2242G>A (p.Val748Ile) http://identifiers.org/clinvar/181077 ^@ NM_000256.3(MYBPC3):c.2221delG (p.Ala741Glnfs) http://identifiers.org/clinvar/181126 ^@ NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) http://identifiers.org/clinvar/180965 ^@ NM_000256.3(MYBPC3):c.2197C>A (p.Arg733Ser) http://identifiers.org/clinvar/180964 ^@ NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) http://identifiers.org/clinvar/181125 ^@ NM_000256.3(MYBPC3):c.2164G>A (p.Glu722Lys) http://identifiers.org/clinvar/180963 ^@ NM_000256.3(MYBPC3):c.2074A>C (p.Lys692Gln) http://identifiers.org/clinvar/180962 ^@ NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys) http://identifiers.org/clinvar/180960 ^@ NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) http://identifiers.org/clinvar/180959 ^@ NM_000256.3(MYBPC3):c.1927+3A>C http://identifiers.org/clinvar/180958 ^@ NM_000256.3(MYBPC3):c.1898-1G>A http://identifiers.org/clinvar/180957 ^@ NM_000256.3(MYBPC3):c.1897+4A>C http://identifiers.org/clinvar/180956 ^@ NM_000256.3(MYBPC3):c.1859G>T (p.Gly620Val) http://identifiers.org/clinvar/181076 ^@ NM_000256.3(MYBPC3):c.1838dupA (p.Asp613Glufs) http://identifiers.org/clinvar/180955 ^@ NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) http://identifiers.org/clinvar/180954 ^@ NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val) http://identifiers.org/clinvar/180953 ^@ NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) http://identifiers.org/clinvar/180952 ^@ NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser) http://identifiers.org/clinvar/180951 ^@ NM_000256.3(MYBPC3):c.1816G>A (p.Val606Ile) http://identifiers.org/clinvar/181075 ^@ NM_000256.3(MYBPC3):c.1806delC (p.Ile603Leufs) http://identifiers.org/clinvar/180950 ^@ NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) http://identifiers.org/clinvar/181074 ^@ NM_000256.3(MYBPC3):c.1792delG (p.Val598Serfs) http://identifiers.org/clinvar/180949 ^@ NM_000256.3(MYBPC3):c.1791-2A>C http://identifiers.org/clinvar/180948 ^@ NM_000256.3(MYBPC3):c.1783A>G (p.Ile595Val) http://identifiers.org/clinvar/181149 ^@ NM_000256.3(MYBPC3):c.1776_1777delGT (p.Ser593Profs) http://identifiers.org/clinvar/180917 ^@ NM_000256.3(MYBPC3):c.1759G>A (p.Asp587Asn) http://identifiers.org/clinvar/181073 ^@ NM_000256.3(MYBPC3):c.1734delG (p.Lys579Argfs) http://identifiers.org/clinvar/180943 ^@ NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) http://identifiers.org/clinvar/180947 ^@ NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) http://identifiers.org/clinvar/181072 ^@ NM_000256.3(MYBPC3):c.1700_1701delAG (p.Glu567Glyfs) http://identifiers.org/clinvar/181124 ^@ NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) http://identifiers.org/clinvar/181123 ^@ NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu) http://identifiers.org/clinvar/180946 ^@ NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp) http://identifiers.org/clinvar/181122 ^@ NM_000256.3(MYBPC3):c.1669G>A (p.Gly557Ser) http://identifiers.org/clinvar/181121 ^@ NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr) http://identifiers.org/clinvar/181120 ^@ NM_000256.3(MYBPC3):c.1624+5G>A http://identifiers.org/clinvar/181119 ^@ NM_000256.3(MYBPC3):c.1624+3G>C http://identifiers.org/clinvar/180945 ^@ NM_000256.3(MYBPC3):c.1604T>C (p.Leu535Pro) http://identifiers.org/clinvar/180944 ^@ NM_000256.3(MYBPC3):c.1595G>T (p.Gly532Val) http://identifiers.org/clinvar/181067 ^@ NM_000256.3(MYBPC3):c.1595delG (p.Gly532Alafs) http://identifiers.org/clinvar/181148 ^@ NM_000256.3(MYBPC3):c.1577_1580dupCACT (p.Cys528Thrfs) http://identifiers.org/clinvar/180942 ^@ NM_000256.3(MYBPC3):c.1546G>A (p.Glu516Lys) http://identifiers.org/clinvar/181070 ^@ NM_000256.3(MYBPC3):c.1543_1545delAAC (p.Asn515del) http://identifiers.org/clinvar/180941 ^@ NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) http://identifiers.org/clinvar/180940 ^@ NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) http://identifiers.org/clinvar/180939 ^@ NM_000256.3(MYBPC3):c.1457+5G>A http://identifiers.org/clinvar/180937 ^@ NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) http://identifiers.org/clinvar/180938 ^@ NM_000256.3(MYBPC3):c.1456T>C (p.Trp486Arg) http://identifiers.org/clinvar/180935 ^@ NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu) http://identifiers.org/clinvar/181069 ^@ NM_000256.3(MYBPC3):c.1410_1411delGG (p.Val471Glyfs) http://identifiers.org/clinvar/180934 ^@ NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter) http://identifiers.org/clinvar/180933 ^@ NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) http://identifiers.org/clinvar/180931 ^@ NM_000256.3(MYBPC3):c.1372C>T (p.Arg458Cys) http://identifiers.org/clinvar/181147 ^@ NM_000256.3(MYBPC3):c.1358dupC (p.Val454Cysfs) http://identifiers.org/clinvar/180930 ^@ NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His) http://identifiers.org/clinvar/180929 ^@ NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met) http://identifiers.org/clinvar/180928 ^@ NM_000256.3(MYBPC3):c.1288G>A (p.Asp430Asn) http://identifiers.org/clinvar/181118 ^@ NM_000256.3(MYBPC3):c.1286C>A (p.Ala429Glu) http://identifiers.org/clinvar/180927 ^@ NM_000256.3(MYBPC3):c.1252A>T (p.Lys418Ter) http://identifiers.org/clinvar/180926 ^@ NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) http://identifiers.org/clinvar/180925 ^@ NM_000256.3(MYBPC3):c.1227-2A>G http://identifiers.org/clinvar/181068 ^@ NM_000256.3(MYBPC3):c.1223+2T>G http://identifiers.org/clinvar/181066 ^@ NM_000256.3(MYBPC3):c.1223+1G>A http://identifiers.org/clinvar/181065 ^@ NM_000256.3(MYBPC3):c.1222A>C (p.Ser408Arg) http://identifiers.org/clinvar/181064 ^@ NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter) http://identifiers.org/clinvar/181141 ^@ NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter) http://identifiers.org/clinvar/181063 ^@ NM_000256.3(MYBPC3):c.1182C>A (p.Val394=) http://identifiers.org/clinvar/181117 ^@ NM_000256.3(MYBPC3):c.1156_1171dup16 (p.Asp391Glyfs) http://identifiers.org/clinvar/181160 ^@ NM_000256.3(MYBPC3):c.1162dupG (p.Ala388Glyfs) http://identifiers.org/clinvar/181062 ^@ NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) http://identifiers.org/clinvar/181116 ^@ NM_000256.3(MYBPC3):c.1120dupC (p.Gln374Profs) http://identifiers.org/clinvar/181061 ^@ NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) http://identifiers.org/clinvar/181060 ^@ NM_000256.3(MYBPC3):c.1112C>T (p.Pro371Leu) http://identifiers.org/clinvar/181059 ^@ NM_000256.3(MYBPC3):c.1090+2T>G http://identifiers.org/clinvar/181058 ^@ NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) http://identifiers.org/clinvar/181159 ^@ NM_000256.3(MYBPC3):c.1084dupA (p.Ser362Lysfs) http://identifiers.org/clinvar/181057 ^@ NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn) http://identifiers.org/clinvar/181115 ^@ NM_000256.3(MYBPC3):c.1069_1072delCGCGinsGC (p.Arg357Alafs) http://identifiers.org/clinvar/181145 ^@ NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His) http://identifiers.org/clinvar/181114 ^@ NM_000256.3(MYBPC3):c.1028delC (p.Thr343Metfs) http://identifiers.org/clinvar/181056 ^@ NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) http://identifiers.org/clinvar/181055 ^@ NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) http://identifiers.org/clinvar/181143 ^@ NM_000256.3(MYBPC3):c.964T>C (p.Trp322Arg) http://identifiers.org/clinvar/181106 ^@ NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309Thrfs) http://identifiers.org/clinvar/181764 ^@ NM_000256.3(MYBPC3):c.906-13T>A http://identifiers.org/clinvar/181054 ^@ NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) http://identifiers.org/clinvar/181112 ^@ NM_000256.3(MYBPC3):c.884delT (p.Phe295Serfs) http://identifiers.org/clinvar/181052 ^@ NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp) http://identifiers.org/clinvar/181051 ^@ NM_000256.3(MYBPC3):c.822-3C>T http://identifiers.org/clinvar/181049 ^@ NM_000256.3(MYBPC3):c.772+5G>A http://identifiers.org/clinvar/181048 ^@ NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro) http://identifiers.org/clinvar/181111 ^@ NM_000256.3(MYBPC3):c.722dupT (p.Ser242Valfs) http://identifiers.org/clinvar/181047 ^@ NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) http://identifiers.org/clinvar/181110 ^@ NM_000256.3(MYBPC3):c.654+2_654+4dupTGG http://identifiers.org/clinvar/181142 ^@ NM_000256.3(MYBPC3):c.653A>G (p.Lys218Arg) http://identifiers.org/clinvar/181046 ^@ NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) http://identifiers.org/clinvar/181109 ^@ NM_000256.3(MYBPC3):c.586delT (p.Trp196Glyfs) http://identifiers.org/clinvar/181045 ^@ NM_000256.3(MYBPC3):c.571T>C (p.Trp191Arg) http://identifiers.org/clinvar/181044 ^@ NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) http://identifiers.org/clinvar/180923 ^@ NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) http://identifiers.org/clinvar/181158 ^@ NM_000256.3(MYBPC3):c.521_523delTCT (p.Phe174del) http://identifiers.org/clinvar/181043 ^@ NM_000256.3(MYBPC3):c.518C>T (p.Thr173Ile) http://identifiers.org/clinvar/181041 ^@ NM_000256.3(MYBPC3):c.505+1G>A http://identifiers.org/clinvar/181040 ^@ NM_000256.3(MYBPC3):c.502G>A (p.Val168Met) http://identifiers.org/clinvar/181039 ^@ NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) http://identifiers.org/clinvar/181038 ^@ NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) http://identifiers.org/clinvar/181037 ^@ NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/181140 ^@ NM_000256.3(MYBPC3):c.477G>A (p.Met159Ile) http://identifiers.org/clinvar/181108 ^@ NM_000256.3(MYBPC3):c.455_456delAC (p.Asp152Alafs) http://identifiers.org/clinvar/181107 ^@ NM_000256.3(MYBPC3):c.453delT (p.Asp151Glufs) http://identifiers.org/clinvar/181105 ^@ NM_000256.3(MYBPC3):c.450delC (p.Asp151Metfs) http://identifiers.org/clinvar/181035 ^@ NM_000256.3(MYBPC3):c.440C>T (p.Pro147Leu) http://identifiers.org/clinvar/181139 ^@ NM_000256.3(MYBPC3):c.428A>G (p.Asn143Ser) http://identifiers.org/clinvar/181034 ^@ NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro) http://identifiers.org/clinvar/181138 ^@ NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) http://identifiers.org/clinvar/181137 ^@ NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter) http://identifiers.org/clinvar/181033 ^@ NM_000256.3(MYBPC3):c.406G>A (p.Gly136Arg) http://identifiers.org/clinvar/181032 ^@ NM_000256.3(MYBPC3):c.340A>G (p.Thr114Ala) http://identifiers.org/clinvar/181031 ^@ NM_000256.3(MYBPC3):c.338C>A (p.Ala113Asp) http://identifiers.org/clinvar/180921 ^@ NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) http://identifiers.org/clinvar/181157 ^@ NM_000256.3(MYBPC3):c.324delT (p.Ala109Profs) http://identifiers.org/clinvar/181030 ^@ NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) http://identifiers.org/clinvar/180994 ^@ NM_000256.3(MYBPC3):c.263T>A (p.Val88Asp) http://identifiers.org/clinvar/181134 ^@ NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr) http://identifiers.org/clinvar/181132 ^@ NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) http://identifiers.org/clinvar/181091 ^@ NM_000256.3(MYBPC3):c.237delC (p.Tyr79Terfs) http://identifiers.org/clinvar/180990 ^@ NM_000256.3(MYBPC3):c.235T>A (p.Tyr79Asn) http://identifiers.org/clinvar/180989 ^@ NM_000256.3(MYBPC3):c.230G>A (p.Gly77Glu) http://identifiers.org/clinvar/181090 ^@ NM_000256.3(MYBPC3):c.182delG (p.Gly61Alafs) http://identifiers.org/clinvar/181089 ^@ NM_000256.3(MYBPC3):c.172delG (p.Ala58Profs) http://identifiers.org/clinvar/180988 ^@ NM_000256.3(MYBPC3):c.151G>T (p.Ala51Ser) http://identifiers.org/clinvar/180984 ^@ NM_000256.3(MYBPC3):c.131G>A (p.Arg44His) http://identifiers.org/clinvar/180981 ^@ NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys) http://identifiers.org/clinvar/180979 ^@ NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) http://identifiers.org/clinvar/180853 ^@ NM_005343.3(HRAS):c.544A>G (p.Met182Val) http://identifiers.org/clinvar/180851 ^@ NM_005343.3(HRAS):c.367C>T (p.Arg123Cys) http://identifiers.org/clinvar/180855 ^@ NM_005343.3(HRAS):c.362C>T (p.Ala121Val) http://identifiers.org/clinvar/180850 ^@ NM_005343.3(HRAS):c.317C>G (p.Ser106Trp) http://identifiers.org/clinvar/180847 ^@ NM_005343.3(HRAS):c.177C>T (p.Ala59=) http://identifiers.org/clinvar/180848 ^@ NM_005343.3(HRAS):c.38G>T (p.Gly13Val) http://identifiers.org/clinvar/180854 ^@ NM_005343.3(HRAS):c.35_36delGCinsAT (p.Gly12Asp) http://identifiers.org/clinvar/181436 ^@ NM_000432.3(MYL2):c.496G>T (p.Asp166Tyr) http://identifiers.org/clinvar/181421 ^@ NM_000432.3(MYL2):c.488A>G (p.Glu163Gly) http://identifiers.org/clinvar/181435 ^@ NM_000432.3(MYL2):c.470A>G (p.His157Arg) http://identifiers.org/clinvar/181434 ^@ NM_000432.3(MYL2):c.358C>G (p.Arg120Gly) http://identifiers.org/clinvar/181420 ^@ NM_000432.3(MYL2):c.355G>A (p.Val119Ile) http://identifiers.org/clinvar/181433 ^@ NM_000432.3(MYL2):c.308T>G (p.Phe103Cys) http://identifiers.org/clinvar/181419 ^@ NM_000432.3(MYL2):c.274+16_274+17insCT http://identifiers.org/clinvar/181418 ^@ NM_000432.3(MYL2):c.274+9delG http://identifiers.org/clinvar/181432 ^@ NM_000432.3(MYL2):c.257T>C (p.Phe86Ser) http://identifiers.org/clinvar/181431 ^@ NM_000432.3(MYL2):c.181G>A (p.Val61Met) http://identifiers.org/clinvar/181429 ^@ NM_000432.3(MYL2):c.113A>G (p.Gln38Arg) http://identifiers.org/clinvar/181427 ^@ NM_000432.3(MYL2):c.97T>C (p.Phe33Leu) http://identifiers.org/clinvar/181426 ^@ NM_000432.3(MYL2):c.64G>T (p.Glu22Ter) http://identifiers.org/clinvar/181425 ^@ NM_000432.3(MYL2):c.53T>C (p.Phe18Ser) http://identifiers.org/clinvar/181424 ^@ NM_000432.3(MYL2):c.49G>A (p.Val17Met) http://identifiers.org/clinvar/181423 ^@ NM_000432.3(MYL2):c.28G>A (p.Ala10Thr) http://identifiers.org/clinvar/181422 ^@ NM_000432.3(MYL2):c.14A>G (p.Lys5Arg) http://identifiers.org/clinvar/181412 ^@ NM_000432.3(MYL2):c.4-18G>A http://identifiers.org/clinvar/181430 ^@ NM_000432.3(MYL2):c.3+1G>T http://identifiers.org/clinvar/181417 ^@ NM_000432.3(MYL2):c.-2C>T http://identifiers.org/clinvar/181494 ^@ NM_002834.4(PTPN11):c.172A>T (p.Asn58Tyr) http://identifiers.org/clinvar/181495 ^@ NM_002834.4(PTPN11):c.211T>G (p.Phe71Val) http://identifiers.org/clinvar/181496 ^@ NM_002834.4(PTPN11):c.226G>C (p.Glu76Gln) http://identifiers.org/clinvar/181497 ^@ NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) http://identifiers.org/clinvar/181498 ^@ NM_002834.4(PTPN11):c.661A>G (p.Ile221Val) http://identifiers.org/clinvar/181765 ^@ NM_002834.4(PTPN11):c.701G>A (p.Ser234Asn) http://identifiers.org/clinvar/181499 ^@ NM_002834.4(PTPN11):c.854T>A (p.Phe285Tyr) http://identifiers.org/clinvar/181500 ^@ NM_002834.4(PTPN11):c.893A>G (p.Asn298Ser) http://identifiers.org/clinvar/181504 ^@ NM_002834.4(PTPN11):c.913A>G (p.Ile305Val) http://identifiers.org/clinvar/181492 ^@ NM_002834.4(PTPN11):c.934-12C>T http://identifiers.org/clinvar/181501 ^@ NM_002834.4(PTPN11):c.997T>A (p.Cys333Ser) http://identifiers.org/clinvar/181766 ^@ NM_002834.4(PTPN11):c.1028G>A (p.Arg343Gln) http://identifiers.org/clinvar/181502 ^@ NM_002834.4(PTPN11):c.1460A>G (p.Asp487Gly) http://identifiers.org/clinvar/181503 ^@ NM_002834.4(PTPN11):c.1471C>G (p.Pro491Ala) http://identifiers.org/clinvar/181493 ^@ NM_002834.4(PTPN11):c.*33-17_*33-13delACTTA http://identifiers.org/clinvar/180859 ^@ NM_004985.4(KRAS):c.508A>T (p.Met170Leu) http://identifiers.org/clinvar/180861 ^@ NM_004985.4(KRAS):c.389C>T (p.Ala130Val) http://identifiers.org/clinvar/180857 ^@ NM_004985.4(KRAS):c.187_189delGAG (p.Glu63del) http://identifiers.org/clinvar/180858 ^@ NM_004985.4(KRAS):c.148A>T (p.Thr50Ser) http://identifiers.org/clinvar/180860 ^@ NM_004985.4(KRAS):c.68T>G (p.Leu23Arg) http://identifiers.org/clinvar/181292 ^@ NM_000257.3(MYH7):c.5800G>A (p.Glu1934Lys) http://identifiers.org/clinvar/181397 ^@ NM_000257.3(MYH7):c.5786C>T (p.Thr1929Met) http://identifiers.org/clinvar/181291 ^@ NM_000257.3(MYH7):c.5761C>T (p.Arg1921Trp) http://identifiers.org/clinvar/181290 ^@ NM_000257.3(MYH7):c.5726G>A (p.Arg1909Gln) http://identifiers.org/clinvar/181289 ^@ NM_000257.3(MYH7):c.5704G>A (p.Glu1902Lys) http://identifiers.org/clinvar/181165 ^@ NM_000257.3(MYH7):c.5661G>A (p.Glu1887=) http://identifiers.org/clinvar/181366 ^@ NM_000257.3(MYH7):c.5659delG (p.Glu1887Serfs) http://identifiers.org/clinvar/181164 ^@ NM_000257.3(MYH7):c.5646C>T (p.Ala1882=) http://identifiers.org/clinvar/181288 ^@ NM_000257.3(MYH7):c.5606A>G (p.Asp1869Gly) http://identifiers.org/clinvar/181287 ^@ NM_000257.3(MYH7):c.5556C>G (p.Tyr1852Ter) http://identifiers.org/clinvar/181286 ^@ NM_000257.3(MYH7):c.5534G>A (p.Arg1845Gln) http://identifiers.org/clinvar/181285 ^@ NM_000257.3(MYH7):c.5530G>A (p.Glu1844Lys) http://identifiers.org/clinvar/181284 ^@ NM_000257.3(MYH7):c.5507C>G (p.Ser1836Trp) http://identifiers.org/clinvar/181283 ^@ NM_000257.3(MYH7):c.5495G>A (p.Arg1832His) http://identifiers.org/clinvar/181282 ^@ NM_000257.3(MYH7):c.5458C>T (p.Arg1820Trp) http://identifiers.org/clinvar/181281 ^@ NM_000257.3(MYH7):c.5453G>A (p.Arg1818Gln) http://identifiers.org/clinvar/181280 ^@ NM_000257.3(MYH7):c.5410G>A (p.Ala1804Thr) http://identifiers.org/clinvar/181279 ^@ NM_000257.3(MYH7):c.5399C>T (p.Ala1800Val) http://identifiers.org/clinvar/181396 ^@ NM_000257.3(MYH7):c.5398G>C (p.Ala1800Pro) http://identifiers.org/clinvar/181278 ^@ NM_000257.3(MYH7):c.5395G>A (p.Glu1799Lys) http://identifiers.org/clinvar/181414 ^@ NM_000257.3(MYH7):c.5352_5354delGAA (p.Lys1784del) http://identifiers.org/clinvar/181277 ^@ NM_000257.3(MYH7):c.5317C>A (p.Gln1773Lys) http://identifiers.org/clinvar/181276 ^@ NM_000257.3(MYH7):c.5263G>T (p.Ala1755Ser) http://identifiers.org/clinvar/181395 ^@ NM_000257.3(MYH7):c.5254G>A (p.Glu1752Lys) http://identifiers.org/clinvar/181274 ^@ NM_000257.3(MYH7):c.5229G>T (p.Glu1743Asp) http://identifiers.org/clinvar/181272 ^@ NM_000257.3(MYH7):c.5203T>A (p.Ser1735Thr) http://identifiers.org/clinvar/181271 ^@ NM_000257.3(MYH7):c.5120T>C (p.Ile1707Thr) http://identifiers.org/clinvar/181394 ^@ NM_000257.3(MYH7):c.5065C>T (p.Arg1689Cys) http://identifiers.org/clinvar/181393 ^@ NM_000257.3(MYH7):c.5030G>A (p.Arg1677His) http://identifiers.org/clinvar/181270 ^@ NM_000257.3(MYH7):c.5029C>T (p.Arg1677Cys) http://identifiers.org/clinvar/181269 ^@ NM_000257.3(MYH7):c.4904T>C (p.Met1635Thr) http://identifiers.org/clinvar/181268 ^@ NM_000257.3(MYH7):c.4855G>A (p.Glu1619Lys) http://identifiers.org/clinvar/181392 ^@ NM_000257.3(MYH7):c.4831G>T (p.Ala1611Ser) http://identifiers.org/clinvar/181267 ^@ NM_000257.3(MYH7):c.4828G>C (p.Glu1610Gln) http://identifiers.org/clinvar/181266 ^@ NM_000257.3(MYH7):c.4807G>A (p.Ala1603Thr) http://identifiers.org/clinvar/181265 ^@ NM_000257.3(MYH7):c.4772T>A (p.Leu1591Gln) http://identifiers.org/clinvar/181264 ^@ NM_000257.3(MYH7):c.4709C>A (p.Ala1570Glu) http://identifiers.org/clinvar/181262 ^@ NM_000257.3(MYH7):c.4679G>A (p.Arg1560Gln) http://identifiers.org/clinvar/181261 ^@ NM_000257.3(MYH7):c.4664A>G (p.Glu1555Gly) http://identifiers.org/clinvar/181391 ^@ NM_000257.3(MYH7):c.4649C>T (p.Ser1550Phe) http://identifiers.org/clinvar/181251 ^@ NM_000257.3(MYH7):c.4644+5G>C http://identifiers.org/clinvar/181260 ^@ NM_000257.3(MYH7):c.4643A>C (p.Glu1548Ala) http://identifiers.org/clinvar/181259 ^@ NM_000257.3(MYH7):c.4589G>A (p.Arg1530Gln) http://identifiers.org/clinvar/181258 ^@ NM_000257.3(MYH7):c.4532A>C (p.Asp1511Ala) http://identifiers.org/clinvar/181390 ^@ NM_000257.3(MYH7):c.4470G>C (p.Glu1490Asp) http://identifiers.org/clinvar/181256 ^@ NM_000257.3(MYH7):c.4423C>T (p.Arg1475Cys) http://identifiers.org/clinvar/181255 ^@ NM_000257.3(MYH7):c.4353+5G>A http://identifiers.org/clinvar/181254 ^@ NM_000257.3(MYH7):c.4300C>T (p.Arg1434Cys) http://identifiers.org/clinvar/181252 ^@ NM_000257.3(MYH7):c.4270G>A (p.Glu1424Lys) http://identifiers.org/clinvar/181250 ^@ NM_000257.3(MYH7):c.4238C>T (p.Ser1413Leu) http://identifiers.org/clinvar/181249 ^@ NM_000257.3(MYH7):c.4219G>A (p.Val1407Ile) http://identifiers.org/clinvar/181248 ^@ NM_000257.3(MYH7):c.4199C>G (p.Ala1400Gly) http://identifiers.org/clinvar/181163 ^@ NM_000257.3(MYH7):c.4197A>T (p.Glu1399Asp) http://identifiers.org/clinvar/181365 ^@ NM_000257.3(MYH7):c.4190_4192delTGC (p.Leu1397del) http://identifiers.org/clinvar/181247 ^@ NM_000257.3(MYH7):c.4187G>A (p.Arg1396Gln) http://identifiers.org/clinvar/181246 ^@ NM_000257.3(MYH7):c.4186C>T (p.Arg1396Trp) http://identifiers.org/clinvar/181245 ^@ NM_000257.3(MYH7):c.4170-8C>A http://identifiers.org/clinvar/181244 ^@ NM_000257.3(MYH7):c.4159G>A (p.Glu1387Lys) http://identifiers.org/clinvar/181389 ^@ NM_000257.3(MYH7):c.4144C>T (p.Arg1382Trp) http://identifiers.org/clinvar/181243 ^@ NM_000257.3(MYH7):c.4126G>A (p.Glu1376Lys) http://identifiers.org/clinvar/181242 ^@ NM_000257.3(MYH7):c.4123T>C (p.Tyr1375His) http://identifiers.org/clinvar/181387 ^@ NM_000257.3(MYH7):c.4118C>T (p.Thr1373Ile) http://identifiers.org/clinvar/181386 ^@ NM_000257.3(MYH7):c.4093A>G (p.Asn1365Asp) http://identifiers.org/clinvar/181241 ^@ NM_000257.3(MYH7):c.4079T>C (p.Val1360Ala) http://identifiers.org/clinvar/181240 ^@ NM_000257.3(MYH7):c.4070T>C (p.Leu1357Pro) http://identifiers.org/clinvar/181239 ^@ NM_000257.3(MYH7):c.4036C>A (p.Gln1346Lys) http://identifiers.org/clinvar/181238 ^@ NM_000257.3(MYH7):c.4010G>A (p.Arg1337Gln) http://identifiers.org/clinvar/181237 ^@ NM_000257.3(MYH7):c.3977A>G (p.Lys1326Arg) http://identifiers.org/clinvar/181413 ^@ NM_000257.3(MYH7):c.3901_3903delCTG (p.Leu1301del) http://identifiers.org/clinvar/181236 ^@ NM_000257.3(MYH7):c.3883G>A (p.Glu1295Lys) http://identifiers.org/clinvar/181235 ^@ NM_000257.3(MYH7):c.3823A>C (p.Ser1275Arg) http://identifiers.org/clinvar/181385 ^@ NM_000257.3(MYH7):c.3814G>A (p.Asp1272Asn) http://identifiers.org/clinvar/181234 ^@ NM_000257.3(MYH7):c.3812A>G (p.Asn1271Ser) http://identifiers.org/clinvar/181233 ^@ NM_000257.3(MYH7):c.3803G>C (p.Arg1268Pro) http://identifiers.org/clinvar/181232 ^@ NM_000257.3(MYH7):c.3749G>C (p.Arg1250Pro) http://identifiers.org/clinvar/181364 ^@ NM_000257.3(MYH7):c.3705_3716delGGAGCAGATCAT (p.Met1235_Ile1238del) http://identifiers.org/clinvar/181162 ^@ NM_000257.3(MYH7):c.3682C>T (p.Leu1228=) http://identifiers.org/clinvar/181231 ^@ NM_000257.3(MYH7):c.3627C>G (p.Asn1209Lys) http://identifiers.org/clinvar/181229 ^@ NM_000257.3(MYH7):c.3620T>A (p.Ile1207Asn) http://identifiers.org/clinvar/181228 ^@ NM_000257.3(MYH7):c.3597C>G (p.Ser1199Arg) http://identifiers.org/clinvar/181227 ^@ NM_000257.3(MYH7):c.3592G>A (p.Asp1198Asn) http://identifiers.org/clinvar/181226 ^@ NM_000257.3(MYH7):c.3551A>T (p.Gln1184Leu) http://identifiers.org/clinvar/181225 ^@ NM_000257.3(MYH7):c.3492C>A (p.Asn1164Lys) http://identifiers.org/clinvar/181224 ^@ NM_000257.3(MYH7):c.3475G>A (p.Val1159Met) http://identifiers.org/clinvar/181223 ^@ NM_000257.3(MYH7):c.3469A>G (p.Thr1157Ala) http://identifiers.org/clinvar/181222 ^@ NM_000257.3(MYH7):c.3424G>A (p.Glu1142Lys) http://identifiers.org/clinvar/181384 ^@ NM_000257.3(MYH7):c.3407G>A (p.Arg1136His) http://identifiers.org/clinvar/181383 ^@ NM_000257.3(MYH7):c.3373G>C (p.Glu1125Gln) http://identifiers.org/clinvar/181221 ^@ NM_000257.3(MYH7):c.3341G>A (p.Arg1114His) http://identifiers.org/clinvar/181220 ^@ NM_000257.3(MYH7):c.3269T>C (p.Leu1090Pro) http://identifiers.org/clinvar/181219 ^@ NM_000257.3(MYH7):c.3241A>G (p.Lys1081Glu) http://identifiers.org/clinvar/181218 ^@ NM_000257.3(MYH7):c.3172G>T (p.Asp1058Tyr) http://identifiers.org/clinvar/181217 ^@ NM_000257.3(MYH7):c.3172G>A (p.Asp1058Asn) http://identifiers.org/clinvar/181216 ^@ NM_000257.3(MYH7):c.3163C>A (p.Leu1055Met) http://identifiers.org/clinvar/181215 ^@ NM_000257.3(MYH7):c.3160A>G (p.Lys1054Glu) http://identifiers.org/clinvar/181214 ^@ NM_000257.3(MYH7):c.3148C>T (p.Arg1050Ter) http://identifiers.org/clinvar/181213 ^@ NM_000257.3(MYH7):c.3126G>T (p.Lys1042Asn) http://identifiers.org/clinvar/181212 ^@ NM_000257.3(MYH7):c.3094G>A (p.Asp1032Asn) http://identifiers.org/clinvar/181211 ^@ NM_000257.3(MYH7):c.3037G>A (p.Glu1013Lys) http://identifiers.org/clinvar/181210 ^@ NM_000257.3(MYH7):c.3020T>C (p.Leu1007Pro) http://identifiers.org/clinvar/181209 ^@ NM_000257.3(MYH7):c.3010C>G (p.Gln1004Glu) http://identifiers.org/clinvar/181208 ^@ NM_000257.3(MYH7):c.2974C>A (p.Leu992Met) http://identifiers.org/clinvar/181381 ^@ NM_000257.3(MYH7):c.2959G>A (p.Glu987Lys) http://identifiers.org/clinvar/181380 ^@ NM_000257.3(MYH7):c.2858A>T (p.Asp953Val) http://identifiers.org/clinvar/181207 ^@ NM_000257.3(MYH7):c.2804A>T (p.Glu935Val) http://identifiers.org/clinvar/181206 ^@ NM_000257.3(MYH7):c.2792A>G (p.Glu931Gly) http://identifiers.org/clinvar/181379 ^@ NM_000257.3(MYH7):c.2783A>T (p.Asp928Val) http://identifiers.org/clinvar/181205 ^@ NM_000257.3(MYH7):c.2761G>A (p.Glu921Lys) http://identifiers.org/clinvar/181204 ^@ NM_000257.3(MYH7):c.2734A>C (p.Lys912Gln) http://identifiers.org/clinvar/181378 ^@ NM_000257.3(MYH7):c.2727C>G (p.Ile909Met) http://identifiers.org/clinvar/181203 ^@ NM_000257.3(MYH7):c.2714G>C (p.Cys905Ser) http://identifiers.org/clinvar/181201 ^@ NM_000257.3(MYH7):c.2700T>A (p.Asp900Glu) http://identifiers.org/clinvar/181200 ^@ NM_000257.3(MYH7):c.2698G>A (p.Asp900Asn) http://identifiers.org/clinvar/181199 ^@ NM_000257.3(MYH7):c.2696C>A (p.Ala899Glu) http://identifiers.org/clinvar/181376 ^@ NM_000257.3(MYH7):c.2683C>A (p.Gln895Lys) http://identifiers.org/clinvar/181362 ^@ NM_000257.3(MYH7):c.2666_2667delTCinsAA (p.Leu889Gln) http://identifiers.org/clinvar/181197 ^@ NM_000257.3(MYH7):c.2632G>C (p.Val878Leu) http://identifiers.org/clinvar/181195 ^@ NM_000257.3(MYH7):c.2593A>G (p.Lys865Glu) http://identifiers.org/clinvar/181361 ^@ NM_000257.3(MYH7):c.2563_2565delGAG (p.Glu855del) http://identifiers.org/clinvar/181375 ^@ NM_000257.3(MYH7):c.2555T>A (p.Met852Lys) http://identifiers.org/clinvar/181374 ^@ NM_000257.3(MYH7):c.2544G>C (p.Glu848Asp) http://identifiers.org/clinvar/181194 ^@ NM_000257.3(MYH7):c.2536G>C (p.Glu846Gln) http://identifiers.org/clinvar/181161 ^@ NM_000257.3(MYH7):c.2526T>C (p.Ser842=) http://identifiers.org/clinvar/181193 ^@ NM_000257.3(MYH7):c.2518C>A (p.Leu840Met) http://identifiers.org/clinvar/181192 ^@ NM_000257.3(MYH7):c.2497T>C (p.Tyr833His) http://identifiers.org/clinvar/181191 ^@ NM_000257.3(MYH7):c.2495T>C (p.Leu832Pro) http://identifiers.org/clinvar/181373 ^@ NM_000257.3(MYH7):c.2478T>A (p.Asn826Lys) http://identifiers.org/clinvar/181189 ^@ NM_000257.3(MYH7):c.2473A>C (p.Lys825Gln) http://identifiers.org/clinvar/181188 ^@ NM_000257.3(MYH7):c.2464A>T (p.Met822Leu) http://identifiers.org/clinvar/181370 ^@ NM_000257.3(MYH7):c.2464A>C (p.Met822Leu) http://identifiers.org/clinvar/181187 ^@ NM_000257.3(MYH7):c.2459C>T (p.Ala820Val) http://identifiers.org/clinvar/181186 ^@ NM_000257.3(MYH7):c.2458G>C (p.Ala820Pro) http://identifiers.org/clinvar/181185 ^@ NM_000257.3(MYH7):c.2423+3G>T http://identifiers.org/clinvar/181184 ^@ NM_000257.3(MYH7):c.2416G>A (p.Glu806Lys) http://identifiers.org/clinvar/181371 ^@ NM_000257.3(MYH7):c.2378G>A (p.Arg793Gln) http://identifiers.org/clinvar/181182 ^@ NM_000257.3(MYH7):c.2347C>T (p.Arg783Cys) http://identifiers.org/clinvar/181181 ^@ NM_000257.3(MYH7):c.2346C>A (p.Ser782Arg) http://identifiers.org/clinvar/181180 ^@ NM_000257.3(MYH7):c.2302G>C (p.Gly768Arg) http://identifiers.org/clinvar/181179 ^@ NM_000257.3(MYH7):c.2288T>G (p.Val763Gly) http://identifiers.org/clinvar/181178 ^@ NM_000257.3(MYH7):c.2229G>C (p.Glu743Asp) http://identifiers.org/clinvar/181368 ^@ NM_000257.3(MYH7):c.2213G>C (p.Ser738Thr) http://identifiers.org/clinvar/181360 ^@ NM_000257.3(MYH7):c.2198_2200dupGAC (p.Gly733_Gln734insArg) http://identifiers.org/clinvar/181177 ^@ NM_000257.3(MYH7):c.2198G>T (p.Gly733Val) http://identifiers.org/clinvar/181176 ^@ NM_000257.3(MYH7):c.2191C>T (p.Pro731Ser) http://identifiers.org/clinvar/181175 ^@ NM_000257.3(MYH7):c.2163G>T (p.Arg721Ser) http://identifiers.org/clinvar/181174 ^@ NM_000257.3(MYH7):c.2160G>C (p.Gln720His) http://identifiers.org/clinvar/181359 ^@ NM_000257.3(MYH7):c.2138_2139delTCinsGA (p.Ile713Arg) http://identifiers.org/clinvar/181367 ^@ NM_000257.3(MYH7):c.2110A>G (p.Ile704Val) http://identifiers.org/clinvar/181173 ^@ NM_000257.3(MYH7):c.2087A>G (p.Asn696Ser) http://identifiers.org/clinvar/181172 ^@ NM_000257.3(MYH7):c.2063T>C (p.Leu688Pro) http://identifiers.org/clinvar/181171 ^@ NM_000257.3(MYH7):c.2051T>C (p.Met684Thr) http://identifiers.org/clinvar/181358 ^@ NM_000257.3(MYH7):c.2018T>G (p.Ile673Ser) http://identifiers.org/clinvar/181357 ^@ NM_000257.3(MYH7):c.2012G>A (p.Arg671His) http://identifiers.org/clinvar/181411 ^@ NM_000257.3(MYH7):c.1874C>T (p.Ala625Val) http://identifiers.org/clinvar/181356 ^@ NM_000257.3(MYH7):c.1849C>T (p.Leu617Phe) http://identifiers.org/clinvar/181354 ^@ NM_000257.3(MYH7):c.1805A>G (p.Asn602Ser) http://identifiers.org/clinvar/181353 ^@ NM_000257.3(MYH7):c.1711G>A (p.Gly571Arg) http://identifiers.org/clinvar/181352 ^@ NM_000257.3(MYH7):c.1681G>A (p.Ala561Thr) http://identifiers.org/clinvar/181409 ^@ NM_000257.3(MYH7):c.1615A>G (p.Met539Val) http://identifiers.org/clinvar/181408 ^@ NM_000257.3(MYH7):c.1571T>C (p.Ile524Thr) http://identifiers.org/clinvar/181350 ^@ NM_000257.3(MYH7):c.1479G>A (p.Met493Ile) http://identifiers.org/clinvar/181349 ^@ NM_000257.3(MYH7):c.1477A>G (p.Met493Val) http://identifiers.org/clinvar/181348 ^@ NM_000257.3(MYH7):c.1462T>A (p.Phe488Ile) http://identifiers.org/clinvar/181407 ^@ NM_000257.3(MYH7):c.1451A>C (p.Lys484Thr) http://identifiers.org/clinvar/181347 ^@ NM_000257.3(MYH7):c.1432A>G (p.Ile478Val) http://identifiers.org/clinvar/181346 ^@ NM_000257.3(MYH7):c.1407+4A>C http://identifiers.org/clinvar/181345 ^@ NM_000257.3(MYH7):c.1400T>C (p.Ile467Thr) http://identifiers.org/clinvar/181344 ^@ NM_000257.3(MYH7):c.1351C>G (p.Gln451Glu) http://identifiers.org/clinvar/181343 ^@ NM_000257.3(MYH7):c.1331A>G (p.Asn444Ser) http://identifiers.org/clinvar/181342 ^@ NM_000257.3(MYH7):c.1325G>A (p.Arg442His) http://identifiers.org/clinvar/181406 ^@ NM_000257.3(MYH7):c.1316T>G (p.Met439Arg) http://identifiers.org/clinvar/181341 ^@ NM_000257.3(MYH7):c.1315A>G (p.Met439Val) http://identifiers.org/clinvar/181340 ^@ NM_000257.3(MYH7):c.1234A>T (p.Thr412Ser) http://identifiers.org/clinvar/181339 ^@ NM_000257.3(MYH7):c.1231G>A (p.Val411Ile) http://identifiers.org/clinvar/181404 ^@ NM_000257.3(MYH7):c.1177G>C (p.Ala393Pro) http://identifiers.org/clinvar/181337 ^@ NM_000257.3(MYH7):c.1135G>A (p.Glu379Lys) http://identifiers.org/clinvar/181170 ^@ NM_000257.3(MYH7):c.1128C>A (p.Asp376Glu) http://identifiers.org/clinvar/181403 ^@ NM_000257.3(MYH7):c.1118C>T (p.Ala373Val) http://identifiers.org/clinvar/181336 ^@ NM_000257.3(MYH7):c.1070T>G (p.Met357Arg) http://identifiers.org/clinvar/181335 ^@ NM_000257.3(MYH7):c.1051A>G (p.Lys351Glu) http://identifiers.org/clinvar/181334 ^@ NM_000257.3(MYH7):c.1048T>C (p.Tyr350His) http://identifiers.org/clinvar/181169 ^@ NM_000257.3(MYH7):c.1045A>G (p.Met349Val) http://identifiers.org/clinvar/181333 ^@ NM_000257.3(MYH7):c.1030G>C (p.Glu344Gln) http://identifiers.org/clinvar/181332 ^@ NM_000257.3(MYH7):c.969T>G (p.Ile323Met) http://identifiers.org/clinvar/181331 ^@ NM_000257.3(MYH7):c.967A>G (p.Ile323Val) http://identifiers.org/clinvar/181330 ^@ NM_000257.3(MYH7):c.964T>A (p.Ser322Thr) http://identifiers.org/clinvar/181402 ^@ NM_000257.3(MYH7):c.925G>A (p.Asp309Asn) http://identifiers.org/clinvar/181329 ^@ NM_000257.3(MYH7):c.910A>T (p.Thr304Ser) http://identifiers.org/clinvar/181328 ^@ NM_000257.3(MYH7):c.871T>C (p.Ser291Pro) http://identifiers.org/clinvar/181327 ^@ NM_000257.3(MYH7):c.842G>C (p.Arg281Thr) http://identifiers.org/clinvar/181326 ^@ NM_000257.3(MYH7):c.789A>G (p.Ile263Met) http://identifiers.org/clinvar/181324 ^@ NM_000257.3(MYH7):c.758G>T (p.Gly253Val) http://identifiers.org/clinvar/181323 ^@ NM_000257.3(MYH7):c.748A>T (p.Ile250Phe) http://identifiers.org/clinvar/181401 ^@ NM_000257.3(MYH7):c.740T>G (p.Phe247Cys) http://identifiers.org/clinvar/181321 ^@ NM_000257.3(MYH7):c.737A>G (p.Lys246Arg) http://identifiers.org/clinvar/181320 ^@ NM_000257.3(MYH7):c.732+1G>A http://identifiers.org/clinvar/181319 ^@ NM_000257.3(MYH7):c.730T>C (p.Phe244Leu) http://identifiers.org/clinvar/181400 ^@ NM_000257.3(MYH7):c.725C>G (p.Ser242Cys) http://identifiers.org/clinvar/181318 ^@ NM_000257.3(MYH7):c.697G>T (p.Ala233Ser) http://identifiers.org/clinvar/181317 ^@ NM_000257.3(MYH7):c.649G>C (p.Glu217Gln) http://identifiers.org/clinvar/181316 ^@ NM_000257.3(MYH7):c.617A>G (p.Lys206Arg) http://identifiers.org/clinvar/181315 ^@ NM_000257.3(MYH7):c.610C>T (p.Arg204Cys) http://identifiers.org/clinvar/181312 ^@ NM_000257.3(MYH7):c.550A>C (p.Lys184Gln) http://identifiers.org/clinvar/181311 ^@ NM_000257.3(MYH7):c.530+1G>A http://identifiers.org/clinvar/181310 ^@ NM_000257.3(MYH7):c.511A>C (p.Asn171His) http://identifiers.org/clinvar/181308 ^@ NM_000257.3(MYH7):c.502G>A (p.Asp168Asn) http://identifiers.org/clinvar/181399 ^@ NM_000257.3(MYH7):c.494T>A (p.Met165Lys) http://identifiers.org/clinvar/181307 ^@ NM_000257.3(MYH7):c.493A>G (p.Met165Val) http://identifiers.org/clinvar/181306 ^@ NM_000257.3(MYH7):c.460A>G (p.Ile154Val) http://identifiers.org/clinvar/181305 ^@ NM_000257.3(MYH7):c.452C>T (p.Pro151Leu) http://identifiers.org/clinvar/181304 ^@ NM_000257.3(MYH7):c.442A>C (p.Ser148Arg) http://identifiers.org/clinvar/181302 ^@ NM_000257.3(MYH7):c.431G>A (p.Gly144Asp) http://identifiers.org/clinvar/181301 ^@ NM_000257.3(MYH7):c.373G>T (p.Val125Phe) http://identifiers.org/clinvar/181168 ^@ NM_000257.3(MYH7):c.373G>A (p.Val125Ile) http://identifiers.org/clinvar/181300 ^@ NM_000257.3(MYH7):c.341T>C (p.Ile114Thr) http://identifiers.org/clinvar/181167 ^@ NM_000257.3(MYH7):c.329G>T (p.Gly110Val) http://identifiers.org/clinvar/181299 ^@ NM_000257.3(MYH7):c.323G>A (p.Arg108His) http://identifiers.org/clinvar/181298 ^@ NM_000257.3(MYH7):c.221A>G (p.Asp74Gly) http://identifiers.org/clinvar/181297 ^@ NM_000257.3(MYH7):c.211G>A (p.Val71Met) http://identifiers.org/clinvar/181398 ^@ NM_000257.3(MYH7):c.154G>A (p.Val52Met) http://identifiers.org/clinvar/181166 ^@ NM_000257.3(MYH7):c.153C>T (p.Ile51=) http://identifiers.org/clinvar/181296 ^@ NM_000257.3(MYH7):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/181295 ^@ NM_000257.3(MYH7):c.67C>T (p.Arg23Trp) http://identifiers.org/clinvar/181294 ^@ NM_000257.3(MYH7):c.52A>G (p.Lys18Glu) http://identifiers.org/clinvar/181293 ^@ NM_000257.3(MYH7):c.29G>C (p.Gly10Ala) http://identifiers.org/clinvar/180774 ^@ NM_005159.4(ACTC1):c.1112T>C (p.Ile371Thr) http://identifiers.org/clinvar/180773 ^@ NM_005159.4(ACTC1):c.998C>T (p.Ala333Val) http://identifiers.org/clinvar/180778 ^@ NM_005159.4(ACTC1):c.986T>C (p.Ile329Thr) http://identifiers.org/clinvar/180771 ^@ NM_005159.4(ACTC1):c.968C>T (p.Ala323Val) http://identifiers.org/clinvar/180770 ^@ NM_005159.4(ACTC1):c.952G>A (p.Glu318Lys) http://identifiers.org/clinvar/180769 ^@ NM_005159.4(ACTC1):c.886T>C (p.Tyr296His) http://identifiers.org/clinvar/180767 ^@ NM_005159.4(ACTC1):c.812T>C (p.Met271Thr) http://identifiers.org/clinvar/180766 ^@ NM_005159.4(ACTC1):c.808+1G>C http://identifiers.org/clinvar/180765 ^@ NM_005159.4(ACTC1):c.769T>C (p.Phe257Leu) http://identifiers.org/clinvar/180763 ^@ NM_005159.4(ACTC1):c.755T>C (p.Ile252Thr) http://identifiers.org/clinvar/180762 ^@ NM_005159.4(ACTC1):c.700T>C (p.Ser234Pro) http://identifiers.org/clinvar/180761 ^@ NM_005159.4(ACTC1):c.695C>T (p.Ala232Val) http://identifiers.org/clinvar/180760 ^@ NM_005159.4(ACTC1):c.579G>T (p.Lys193Asn) http://identifiers.org/clinvar/180759 ^@ NM_005159.4(ACTC1):c.563C>T (p.Thr188Ile) http://identifiers.org/clinvar/180758 ^@ NM_005159.4(ACTC1):c.541G>C (p.Asp181His) http://identifiers.org/clinvar/180757 ^@ NM_005159.4(ACTC1):c.529A>G (p.Ile177Val) http://identifiers.org/clinvar/180754 ^@ NM_005159.4(ACTC1):c.523dupC (p.His175Profs) http://identifiers.org/clinvar/180776 ^@ NM_005159.4(ACTC1):c.500T>C (p.Ile167Thr) http://identifiers.org/clinvar/180753 ^@ NM_005159.4(ACTC1):c.275_277delTCT (p.Phe92del) http://identifiers.org/clinvar/180756 ^@ NM_005159.4(ACTC1):c.161C>T (p.Ser54Phe) http://identifiers.org/clinvar/180749 ^@ NM_005159.4(ACTC1):c.129+17delG http://identifiers.org/clinvar/180755 ^@ NM_005159.4(ACTC1):c.22A>G (p.Thr8Ala) http://identifiers.org/clinvar/180775 ^@ NM_005159.4(ACTC1):c.10G>C (p.Asp4His) http://identifiers.org/clinvar/181675 ^@ NM_001018005.1(TPM1):c.10A>G (p.Ile4Val) http://identifiers.org/clinvar/181682 ^@ NM_001018005.1(TPM1):c.20_22delAGA (p.Lys7del) http://identifiers.org/clinvar/181676 ^@ NM_001018005.1(TPM1):c.25C>A (p.Gln9Lys) http://identifiers.org/clinvar/181656 ^@ NM_001018005.1(TPM1):c.61C>A (p.Arg21=) http://identifiers.org/clinvar/181678 ^@ NM_001018005.1(TPM1):c.62G>T (p.Arg21Leu) http://identifiers.org/clinvar/181679 ^@ NM_001018005.1(TPM1):c.104G>C (p.Arg35Thr) http://identifiers.org/clinvar/181659 ^@ NM_001018005.1(TPM1):c.115-275A>T http://identifiers.org/clinvar/181650 ^@ NM_001018020.1(TPM1):c.198G>C (p.Lys66Asn) http://identifiers.org/clinvar/181660 ^@ NM_001018005.1(TPM1):c.115-204G>C http://identifiers.org/clinvar/181651 ^@ NM_001018005.1(TPM1):c.154G>A (p.Gly52Ser) http://identifiers.org/clinvar/181670 ^@ NM_001018005.1(TPM1):c.211C>G (p.Leu71Val) http://identifiers.org/clinvar/181673 ^@ NM_001018005.1(TPM1):c.240+1G>A http://identifiers.org/clinvar/181655 ^@ NM_001018005.1(TPM1):c.240+4465C>G http://identifiers.org/clinvar/181657 ^@ NM_001018005.1(TPM1):c.248C>A (p.Ala83Asp) http://identifiers.org/clinvar/181684 ^@ NM_001018005.1(TPM1):c.276C>G (p.Ile92Met) http://identifiers.org/clinvar/181661 ^@ NM_001018005.1(TPM1):c.410A>T (p.Asp137Val) http://identifiers.org/clinvar/181662 ^@ NM_001018005.1(TPM1):c.418A>C (p.Lys140Gln) http://identifiers.org/clinvar/181663 ^@ NM_001018005.1(TPM1):c.428T>G (p.Ile143Ser) http://identifiers.org/clinvar/181664 ^@ NM_001018005.1(TPM1):c.513C>G (p.Ile171Met) http://identifiers.org/clinvar/181665 ^@ NM_001018005.1(TPM1):c.516T>G (p.Ile172Met) http://identifiers.org/clinvar/181680 ^@ NM_001018005.1(TPM1):c.551delA (p.Glu184Glyfs) http://identifiers.org/clinvar/181681 ^@ NM_001018005.1(TPM1):c.572_573delCCinsTT (p.Ala191Val) http://identifiers.org/clinvar/181667 ^@ NM_001018005.1(TPM1):c.592A>G (p.Lys198Glu) http://identifiers.org/clinvar/181668 ^@ NM_001018005.1(TPM1):c.602C>T (p.Thr201Met) http://identifiers.org/clinvar/181686 ^@ NM_001018005.1(TPM1):c.625G>A (p.Ala209Thr) http://identifiers.org/clinvar/181671 ^@ NM_001018005.1(TPM1):c.677A>G (p.Lys226Arg) http://identifiers.org/clinvar/181672 ^@ NM_001018005.1(TPM1):c.702+4A>G http://identifiers.org/clinvar/181687 ^@ NM_001018005.1(TPM1):c.743A>C (p.Lys248Thr) http://identifiers.org/clinvar/181653 ^@ NM_001018005.1(TPM1):c.775G>C (p.Glu259Gln) http://identifiers.org/clinvar/181674 ^@ NM_001018005.1(TPM1):c.787C>G (p.Gln263Glu) http://identifiers.org/clinvar/181654 ^@ NM_001018005.1(TPM1):c.*4001G>A http://identifiers.org/clinvar/180896 ^@ NM_002755.3(MAP2K1):c.277G>A (p.Val93Ile) http://identifiers.org/clinvar/180901 ^@ NM_002755.3(MAP2K1):c.412G>A (p.Glu138Lys) http://identifiers.org/clinvar/180902 ^@ NM_002755.3(MAP2K1):c.568+1G>A http://identifiers.org/clinvar/180895 ^@ NM_002755.3(MAP2K1):c.1068+9A>G http://identifiers.org/clinvar/180900 ^@ NM_002755.3(MAP2K1):c.1168G>A (p.Ala390Thr) http://identifiers.org/clinvar/181457 ^@ NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu) http://identifiers.org/clinvar/181452 ^@ NM_000271.4(NPC1):c.2731G>A (p.Gly911Ser) http://identifiers.org/clinvar/181455 ^@ NM_000271.4(NPC1):c.1628C>T (p.Pro543Leu) http://identifiers.org/clinvar/181450 ^@ NM_000271.4(NPC1):c.547G>A (p.Ala183Thr) http://identifiers.org/clinvar/181454 ^@ NM_000271.4(NPC1):c.481C>T (p.Arg161Trp) http://identifiers.org/clinvar/181697 ^@ NM_000371.3(TTR):c.14G>A (p.Arg5His) http://identifiers.org/clinvar/181705 ^@ NM_000371.3(TTR):c.52T>G (p.Ser18Ala) http://identifiers.org/clinvar/181693 ^@ NM_000371.3(TTR):c.130C>T (p.Pro44Ser) http://identifiers.org/clinvar/181702 ^@ NM_000371.3(TTR):c.194C>A (p.Ala65Asp) http://identifiers.org/clinvar/181701 ^@ NM_000371.3(TTR):c.220_221delGAinsTC (p.Glu74Ser) http://identifiers.org/clinvar/181694 ^@ NM_000371.3(TTR):c.236C>A (p.Thr79Lys) http://identifiers.org/clinvar/181695 ^@ NM_000371.3(TTR):c.280G>C (p.Asp94His) http://identifiers.org/clinvar/181703 ^@ NM_000371.3(TTR):c.283A>T (p.Thr95Ser) http://identifiers.org/clinvar/181704 ^@ NM_000371.3(TTR):c.296G>A (p.Trp99Ter) http://identifiers.org/clinvar/181696 ^@ NM_000371.3(TTR):c.301G>A (p.Ala101Thr) http://identifiers.org/clinvar/181690 ^@ NM_000371.3(TTR):c.355G>A (p.Asp119Asn) http://identifiers.org/clinvar/181698 ^@ NM_000371.3(TTR):c.368G>A (p.Arg123His) http://identifiers.org/clinvar/181699 ^@ NM_000371.3(TTR):c.397C>T (p.Pro133Ser) http://identifiers.org/clinvar/181700 ^@ NM_000371.3(TTR):c.407A>C (p.Tyr136Ser) http://identifiers.org/clinvar/181706 ^@ NM_000371.3(TTR):c.437A>G (p.Lys146Arg) http://identifiers.org/clinvar/181691 ^@ NM_000371.3(TTR):c.439G>T (p.Glu147Ter) http://identifiers.org/clinvar/180910 ^@ NM_030662.3(MAP2K2):c.1189C>T (p.Arg397Cys) http://identifiers.org/clinvar/180909 ^@ NM_030662.3(MAP2K2):c.1180A>T (p.Thr394Ser) http://identifiers.org/clinvar/180908 ^@ NM_030662.3(MAP2K2):c.1085T>C (p.Met362Thr) http://identifiers.org/clinvar/180907 ^@ NM_030662.3(MAP2K2):c.971A>G (p.Tyr324Cys) http://identifiers.org/clinvar/180903 ^@ NM_030662.3(MAP2K2):c.913G>A (p.Val305Ile) http://identifiers.org/clinvar/180906 ^@ NM_030662.3(MAP2K2):c.806C>T (p.Pro269Leu) http://identifiers.org/clinvar/180914 ^@ NM_030662.3(MAP2K2):c.787G>A (p.Gly263Arg) http://identifiers.org/clinvar/180905 ^@ NM_030662.3(MAP2K2):c.535C>T (p.Arg179Trp) http://identifiers.org/clinvar/180913 ^@ NM_030662.3(MAP2K2):c.313C>G (p.Leu105Val) http://identifiers.org/clinvar/180912 ^@ NM_030662.3(MAP2K2):c.190G>T (p.Val64Phe) http://identifiers.org/clinvar/180911 ^@ NM_030662.3(MAP2K2):c.169T>C (p.Phe57Leu) http://identifiers.org/clinvar/180916 ^@ NM_030662.3(MAP2K2):c.71delC (p.Pro24Leufs) http://identifiers.org/clinvar/180915 ^@ NM_030662.3(MAP2K2):c.10C>T (p.Arg4Trp) http://identifiers.org/clinvar/180904 ^@ NM_030662.3(MAP2K2):c.-18_-16delCCG http://identifiers.org/clinvar/181596 ^@ NM_000363.4(TNNI3):c.632G>T (p.Ter211Leu) http://identifiers.org/clinvar/181594 ^@ NM_000363.4(TNNI3):c.617A>T (p.Lys206Ile) http://identifiers.org/clinvar/181593 ^@ NM_000363.4(TNNI3):c.616A>G (p.Lys206Glu) http://identifiers.org/clinvar/181603 ^@ NM_000363.4(TNNI3):c.596G>A (p.Ser199Asn) http://identifiers.org/clinvar/181602 ^@ NM_000363.4(TNNI3):c.582C>G (p.Asn194Lys) http://identifiers.org/clinvar/181592 ^@ NM_000363.4(TNNI3):c.581A>G (p.Asn194Ser) http://identifiers.org/clinvar/181591 ^@ NM_000363.4(TNNI3):c.579G>T (p.Lys193Asn) http://identifiers.org/clinvar/181590 ^@ NM_000363.4(TNNI3):c.577A>G (p.Lys193Glu) http://identifiers.org/clinvar/181589 ^@ NM_000363.4(TNNI3):c.562G>T (p.Val188Leu) http://identifiers.org/clinvar/181588 ^@ NM_000363.4(TNNI3):c.554A>G (p.Asn185Ser) http://identifiers.org/clinvar/181601 ^@ NM_000363.4(TNNI3):c.553A>T (p.Asn185Tyr) http://identifiers.org/clinvar/181587 ^@ NM_000363.4(TNNI3):c.548A>C (p.Lys183Thr) http://identifiers.org/clinvar/181586 ^@ NM_000363.4(TNNI3):c.547A>G (p.Lys183Glu) http://identifiers.org/clinvar/181585 ^@ NM_000363.4(TNNI3):c.521A>C (p.Lys174Thr) http://identifiers.org/clinvar/181584 ^@ NM_000363.4(TNNI3):c.514C>G (p.His172Asp) http://identifiers.org/clinvar/181583 ^@ NM_000363.4(TNNI3):c.463A>G (p.Met155Val) http://identifiers.org/clinvar/181582 ^@ NM_000363.4(TNNI3):c.458C>A (p.Ala153Asp) http://identifiers.org/clinvar/181581 ^@ NM_000363.4(TNNI3):c.451G>A (p.Ala151Thr) http://identifiers.org/clinvar/181580 ^@ NM_000363.4(TNNI3):c.421C>T (p.Arg141Trp) http://identifiers.org/clinvar/181576 ^@ NM_000363.4(TNNI3):c.407G>A (p.Arg136Gln) http://identifiers.org/clinvar/181579 ^@ NM_000363.4(TNNI3):c.356C>T (p.Thr119Ile) http://identifiers.org/clinvar/181578 ^@ NM_000363.4(TNNI3):c.340A>G (p.Ile114Val) http://identifiers.org/clinvar/181600 ^@ NM_000363.4(TNNI3):c.331A>G (p.Arg111Gly) http://identifiers.org/clinvar/181577 ^@ NM_000363.4(TNNI3):c.308G>A (p.Arg103His) http://identifiers.org/clinvar/181599 ^@ NM_000363.4(TNNI3):c.302A>G (p.His101Arg) http://identifiers.org/clinvar/181575 ^@ NM_000363.4(TNNI3):c.292C>T (p.Arg98Ter) http://identifiers.org/clinvar/181574 ^@ NM_000363.4(TNNI3):c.208G>A (p.Gly70Arg) http://identifiers.org/clinvar/181598 ^@ NM_000363.4(TNNI3):c.150G>A (p.Lys50=) http://identifiers.org/clinvar/181597 ^@ NM_000363.4(TNNI3):c.131C>G (p.Ser44Trp) http://identifiers.org/clinvar/181573 ^@ NM_000363.4(TNNI3):c.114A>T (p.Lys38Asn) http://identifiers.org/clinvar/180832 ^@ NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) http://identifiers.org/clinvar/180844 ^@ NM_000169.2(GLA):c.1072_1074delGAG (p.Glu358del) http://identifiers.org/clinvar/180828 ^@ NM_000169.2(GLA):c.991C>T (p.Leu331Phe) http://identifiers.org/clinvar/180843 ^@ NM_000169.2(GLA):c.847C>T (p.Gln283Ter) http://identifiers.org/clinvar/180842 ^@ NM_000169.2(GLA):c.801G>A (p.Met267Ile) http://identifiers.org/clinvar/180829 ^@ NM_000169.2(GLA):c.721A>G (p.Ser241Gly) http://identifiers.org/clinvar/180841 ^@ NM_000169.2(GLA):c.713G>A (p.Ser238Asn) http://identifiers.org/clinvar/180839 ^@ NM_000169.2(GLA):c.616C>G (p.Leu206Val) http://identifiers.org/clinvar/180838 ^@ NM_000169.2(GLA):c.548-1G>A http://identifiers.org/clinvar/180835 ^@ NM_000169.2(GLA):c.370-2A>G http://identifiers.org/clinvar/180837 ^@ NM_000169.2(GLA):c.112A>G (p.Arg38Gly) http://identifiers.org/clinvar/180845 ^@ NM_000169.2(GLA):c.80delC (p.Pro27Leufs) http://identifiers.org/clinvar/180882 ^@ NM_002294.2(LAMP2):c.1142T>C (p.Val381Ala) http://identifiers.org/clinvar/180889 ^@ NM_002294.2(LAMP2):c.1117_1119delGAC (p.Asp373del) http://identifiers.org/clinvar/180880 ^@ NM_002294.2(LAMP2):c.1093+2478A>G http://identifiers.org/clinvar/180879 ^@ NM_002294.2(LAMP2):c.1040C>G (p.Thr347Ser) http://identifiers.org/clinvar/180893 ^@ NM_002294.2(LAMP2):c.974delT (p.Leu325Argfs) http://identifiers.org/clinvar/180878 ^@ NM_002294.2(LAMP2):c.887T>C (p.Leu296Pro) http://identifiers.org/clinvar/180877 ^@ NM_002294.2(LAMP2):c.864+2T>C http://identifiers.org/clinvar/180876 ^@ NM_002294.2(LAMP2):c.864+1G>A http://identifiers.org/clinvar/180866 ^@ NM_002294.2(LAMP2):c.797G>A (p.Arg266His) http://identifiers.org/clinvar/180874 ^@ NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter) http://identifiers.org/clinvar/180865 ^@ NM_002294.2(LAMP2):c.742-10_742-8delTCT http://identifiers.org/clinvar/180872 ^@ NM_002294.2(LAMP2):c.715C>G (p.Leu239Val) http://identifiers.org/clinvar/180888 ^@ NM_002294.2(LAMP2):c.651dupA (p.Pro218Thrfs) http://identifiers.org/clinvar/180864 ^@ NM_002294.2(LAMP2):c.605A>C (p.His202Pro) http://identifiers.org/clinvar/180887 ^@ NM_002294.2(LAMP2):c.588_589insCAACA (p.Val197Glnfs) http://identifiers.org/clinvar/180871 ^@ NM_002294.2(LAMP2):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/180870 ^@ NM_002294.2(LAMP2):c.364G>A (p.Asp122Asn) http://identifiers.org/clinvar/180863 ^@ NM_002294.2(LAMP2):c.340G>A (p.Val114Ile) http://identifiers.org/clinvar/180892 ^@ NM_002294.2(LAMP2):c.320C>G (p.Ser107Cys) http://identifiers.org/clinvar/180869 ^@ NM_002294.2(LAMP2):c.183+5G>A http://identifiers.org/clinvar/180868 ^@ NM_002294.2(LAMP2):c.73C>T (p.Arg25Trp) http://identifiers.org/clinvar/180891 ^@ NM_002294.2(LAMP2):c.65-1G>C http://identifiers.org/clinvar/180862 ^@ NM_002294.2(LAMP2):c.65-12A>T http://identifiers.org/clinvar/180884 ^@ NM_002294.2(LAMP2):c.64+2T>A http://identifiers.org/clinvar/180883 ^@ NM_002294.2(LAMP2):c.8G>A (p.Cys3Tyr) http://identifiers.org/clinvar/180890 ^@ NM_001122606.1(LAMP2):c.-26_-15dupGCCGTCGCCGCC http://identifiers.org/clinvar/180750 ^@ NM_005159.4:c.129+17insC http://identifiers.org/clinvar/180751 ^@ NM_005159.4:c.129+19insT http://identifiers.org/clinvar/180806 ^@ NM_005188.2:c.1227+20insC http://identifiers.org/clinvar/180807 ^@ NM_005188.2:c.1228-10insT http://identifiers.org/clinvar/180826 ^@ NM_005188.2:c.1227+2_1227+3delTACinsAAG http://identifiers.org/clinvar/180924 ^@ NM_000256.3:c.929insG http://identifiers.org/clinvar/181099 ^@ NM_000256.3:c.3315delG http://identifiers.org/clinvar/181535 ^@ NM_005633.3:c.1-36_1-34delGCC http://identifiers.org/clinvar/182685 ^@ NM_001128425.1(MUTYH):c.1588G>T (p.Asp530Tyr) http://identifiers.org/clinvar/182701 ^@ NM_001128425.1(MUTYH):c.1449C>T (p.Thr483=) http://identifiers.org/clinvar/182696 ^@ NM_001128425.1(MUTYH):c.1247A>G (p.Gln416Arg) http://identifiers.org/clinvar/182700 ^@ NM_001128425.1(MUTYH):c.1186+17C>T http://identifiers.org/clinvar/182695 ^@ NM_001128425.1(MUTYH):c.971C>T (p.Ser324Leu) http://identifiers.org/clinvar/182694 ^@ NM_001128425.1(MUTYH):c.932G>A (p.Arg311Lys) http://identifiers.org/clinvar/182693 ^@ NM_001128425.1(MUTYH):c.918C>G (p.Cys306Trp) http://identifiers.org/clinvar/182692 ^@ NM_001128425.1(MUTYH):c.880C>T (p.Arg294Cys) http://identifiers.org/clinvar/182691 ^@ NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) http://identifiers.org/clinvar/182699 ^@ NM_001128425.1(MUTYH):c.813C>T (p.Asp271=) http://identifiers.org/clinvar/182690 ^@ NM_001128425.1(MUTYH):c.719C>T (p.Ala240Val) http://identifiers.org/clinvar/182698 ^@ NM_001128425.1(MUTYH):c.627G>A (p.Gln209=) http://identifiers.org/clinvar/182689 ^@ NM_001128425.1(MUTYH):c.545G>A (p.Arg182His) http://identifiers.org/clinvar/182688 ^@ NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) http://identifiers.org/clinvar/182697 ^@ NM_001128425.1(MUTYH):c.372C>T (p.Asp124=) http://identifiers.org/clinvar/182686 ^@ NM_001128425.1(MUTYH):c.299T>A (p.Leu100Gln) http://identifiers.org/clinvar/182687 ^@ NM_001128425.1(MUTYH):c.36+20C>A http://identifiers.org/clinvar/182058 ^@ NM_000465.3(BARD1):c.2306C>G (p.Ser769Cys) http://identifiers.org/clinvar/182057 ^@ NM_000465.3(BARD1):c.2294A>G (p.Asp765Gly) http://identifiers.org/clinvar/182056 ^@ NM_000465.3(BARD1):c.2279C>G (p.Ser760Trp) http://identifiers.org/clinvar/182055 ^@ NM_000465.3(BARD1):c.2248G>A (p.Val750Ile) http://identifiers.org/clinvar/182054 ^@ NM_000465.3(BARD1):c.2179G>A (p.Asp727Asn) http://identifiers.org/clinvar/182053 ^@ NM_000465.3(BARD1):c.2137G>T (p.Val713Leu) http://identifiers.org/clinvar/182052 ^@ NM_000465.3(BARD1):c.2095G>C (p.Gly699Arg) http://identifiers.org/clinvar/182031 ^@ NM_000465.3(BARD1):c.2002-11C>T http://identifiers.org/clinvar/182051 ^@ NM_000465.3(BARD1):c.1996C>T (p.Gln666Ter) http://identifiers.org/clinvar/182050 ^@ NM_000465.3(BARD1):c.1808C>A (p.Thr603Lys) http://identifiers.org/clinvar/182049 ^@ NM_000465.3(BARD1):c.1685C>T (p.Thr562Ile) http://identifiers.org/clinvar/182048 ^@ NM_000465.3(BARD1):c.1564G>A (p.Ala522Thr) http://identifiers.org/clinvar/182028 ^@ NM_000465.3(BARD1):c.1515G>T (p.Gly505=) http://identifiers.org/clinvar/182047 ^@ NM_000465.3(BARD1):c.1397A>G (p.His466Arg) http://identifiers.org/clinvar/182033 ^@ NM_000465.3(BARD1):c.1360C>G (p.Pro454Ala) http://identifiers.org/clinvar/182027 ^@ NM_000465.3(BARD1):c.1347A>G (p.Gln449=) http://identifiers.org/clinvar/182046 ^@ NM_000465.3(BARD1):c.1339C>G (p.Leu447Val) http://identifiers.org/clinvar/182045 ^@ NM_000465.3(BARD1):c.1325C>T (p.Pro442Leu) http://identifiers.org/clinvar/182044 ^@ NM_000465.3(BARD1):c.1109G>A (p.Arg370His) http://identifiers.org/clinvar/182043 ^@ NM_000465.3(BARD1):c.1016G>A (p.Ser339Asn) http://identifiers.org/clinvar/182026 ^@ NM_000465.3(BARD1):c.783A>G (p.Leu261=) http://identifiers.org/clinvar/182042 ^@ NM_000465.3(BARD1):c.607G>T (p.Gly203Ter) http://identifiers.org/clinvar/182041 ^@ NM_000465.3(BARD1):c.586A>G (p.Lys196Glu) http://identifiers.org/clinvar/182040 ^@ NM_000465.3(BARD1):c.562C>A (p.Pro188Thr) http://identifiers.org/clinvar/182039 ^@ NM_000465.3(BARD1):c.473T>A (p.Val158Glu) http://identifiers.org/clinvar/182038 ^@ NM_000465.3(BARD1):c.465A>G (p.Arg155=) http://identifiers.org/clinvar/182037 ^@ NM_000465.3(BARD1):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/182036 ^@ NM_000465.3(BARD1):c.448C>T (p.Arg150Ter) http://identifiers.org/clinvar/182024 ^@ NM_000465.3(BARD1):c.348T>C (p.His116=) http://identifiers.org/clinvar/182032 ^@ NM_000465.3(BARD1):c.338A>T (p.Asn113Ile) http://identifiers.org/clinvar/182023 ^@ NM_000465.3(BARD1):c.215+12C>T http://identifiers.org/clinvar/182030 ^@ NM_000465.3(BARD1):c.90T>A (p.Gly30=) http://identifiers.org/clinvar/182035 ^@ NM_000465.3(BARD1):c.80_81delAAinsTCGCGGTG (p.Glu27delinsValAlaVal) http://identifiers.org/clinvar/182029 ^@ NM_000465.3(BARD1):c.57G>A (p.Glu19=) http://identifiers.org/clinvar/182604 ^@ NM_000251.2(MSH2):c.-23C>G http://identifiers.org/clinvar/182605 ^@ NM_000251.2(MSH2):c.-9G>C http://identifiers.org/clinvar/182592 ^@ NM_000251.2(MSH2):c.11dupA (p.Pro5Alafs) http://identifiers.org/clinvar/182561 ^@ NM_000251.2(MSH2):c.14C>T (p.Pro5Leu) http://identifiers.org/clinvar/182595 ^@ NM_000251.2(MSH2):c.55T>C (p.Phe19Leu) http://identifiers.org/clinvar/182566 ^@ NM_000251.2(MSH2):c.62G>A (p.Arg21His) http://identifiers.org/clinvar/182567 ^@ NM_000251.2(MSH2):c.112G>T (p.Asp38Tyr) http://identifiers.org/clinvar/182574 ^@ NM_000251.2(MSH2):c.126C>G (p.Phe42Leu) http://identifiers.org/clinvar/182582 ^@ NM_000251.2(MSH2):c.147C>G (p.Asp49Glu) http://identifiers.org/clinvar/182608 ^@ NM_000251.2(MSH2):c.198C>T (p.Tyr66=) http://identifiers.org/clinvar/182607 ^@ NM_000251.2(MSH2):c.367-19A>T http://identifiers.org/clinvar/182575 ^@ NM_000251.2(MSH2):c.368C>G (p.Ala123Gly) http://identifiers.org/clinvar/182576 ^@ NM_000251.2(MSH2):c.383T>G (p.Leu128Arg) http://identifiers.org/clinvar/182577 ^@ NM_000251.2(MSH2):c.386C>G (p.Ser129Cys) http://identifiers.org/clinvar/182580 ^@ NM_000251.2(MSH2):c.481G>A (p.Val161Ile) http://identifiers.org/clinvar/182581 ^@ NM_000251.2(MSH2):c.544G>T (p.Asp182Tyr) http://identifiers.org/clinvar/182583 ^@ NM_000251.2(MSH2):c.566C>G (p.Ala189Gly) http://identifiers.org/clinvar/182598 ^@ NM_000251.2(MSH2):c.581T>C (p.Ile194Thr) http://identifiers.org/clinvar/182609 ^@ NM_000251.2(MSH2):c.646-16A>T http://identifiers.org/clinvar/182588 ^@ NM_000251.2(MSH2):c.701C>T (p.Thr234Ile) http://identifiers.org/clinvar/182589 ^@ NM_000251.2(MSH2):c.716A>G (p.Gln239Arg) http://identifiers.org/clinvar/182599 ^@ NM_000251.2(MSH2):c.749G>T (p.Gly250Val) http://identifiers.org/clinvar/182590 ^@ NM_000251.2(MSH2):c.766G>A (p.Ala256Thr) http://identifiers.org/clinvar/182600 ^@ NM_000251.2(MSH2):c.791A>G (p.Gln264Arg) http://identifiers.org/clinvar/182555 ^@ NM_000251.2(MSH2):c.898A>G (p.Met300Val) http://identifiers.org/clinvar/182601 ^@ NM_000251.2(MSH2):c.942+17_942+29delAAAAAAAAAAAAA http://identifiers.org/clinvar/182556 ^@ NM_000251.2(MSH2):c.1064G>T (p.Arg355Ile) http://identifiers.org/clinvar/182557 ^@ NM_000251.2(MSH2):c.1139T>C (p.Leu380Ser) http://identifiers.org/clinvar/182591 ^@ NM_000251.2(MSH2):c.1157dupA (p.Asp386Glufs) http://identifiers.org/clinvar/182594 ^@ NM_000251.2(MSH2):c.1189C>G (p.Gln397Glu) http://identifiers.org/clinvar/182602 ^@ NM_000251.2(MSH2):c.1276+11A>G http://identifiers.org/clinvar/182603 ^@ NM_000251.2(MSH2):c.1311G>T (p.Val437=) http://identifiers.org/clinvar/182558 ^@ NM_000251.2(MSH2):c.1382A>C (p.Asp461Ala) http://identifiers.org/clinvar/182559 ^@ NM_000251.2(MSH2):c.1382A>G (p.Asp461Gly) http://identifiers.org/clinvar/182560 ^@ NM_000251.2(MSH2):c.1483A>G (p.Thr495Ala) http://identifiers.org/clinvar/182562 ^@ NM_000251.2(MSH2):c.1525A>T (p.Lys509Ter) http://identifiers.org/clinvar/182563 ^@ NM_000251.2(MSH2):c.1530G>C (p.Gln510His) http://identifiers.org/clinvar/182564 ^@ NM_000251.2(MSH2):c.1571G>A (p.Arg524His) http://identifiers.org/clinvar/182565 ^@ NM_000251.2(MSH2):c.1617T>A (p.Phe539Leu) http://identifiers.org/clinvar/182596 ^@ NM_000251.2(MSH2):c.1813G>A (p.Val605Ile) http://identifiers.org/clinvar/182593 ^@ NM_000251.2(MSH2):c.1916_1919delATGC (p.His639Leufs) http://identifiers.org/clinvar/182597 ^@ NM_000251.2(MSH2):c.1973A>G (p.Glu658Gly) http://identifiers.org/clinvar/182568 ^@ NM_000251.2(MSH2):c.2041C>G (p.Gln681Glu) http://identifiers.org/clinvar/182569 ^@ NM_000251.2(MSH2):c.2043A>T (p.Gln681His) http://identifiers.org/clinvar/182570 ^@ NM_000251.2(MSH2):c.2110A>G (p.Ile704Val) http://identifiers.org/clinvar/182571 ^@ NM_000251.2(MSH2):c.2120G>A (p.Cys707Tyr) http://identifiers.org/clinvar/182572 ^@ NM_000251.2(MSH2):c.2171C>T (p.Thr724Met) http://identifiers.org/clinvar/182573 ^@ NM_000251.2(MSH2):c.2195C>G (p.Thr732Ser) http://identifiers.org/clinvar/182606 ^@ NM_000251.2(MSH2):c.2210+11_2210+22delCTCCTAGTCCCT http://identifiers.org/clinvar/182578 ^@ NM_000251.2(MSH2):c.2288C>T (p.Ala763Val) http://identifiers.org/clinvar/182579 ^@ NM_000251.2(MSH2):c.2377C>G (p.Gln793Glu) http://identifiers.org/clinvar/182585 ^@ NM_000251.2(MSH2):c.2537A>G (p.Gln846Arg) http://identifiers.org/clinvar/182586 ^@ NM_000251.2(MSH2):c.2567A>T (p.Tyr856Phe) http://identifiers.org/clinvar/182587 ^@ NM_000251.2(MSH2):c.2606C>A (p.Ala869Glu) http://identifiers.org/clinvar/182674 ^@ NM_000179.2(MSH6):c.-6G>T http://identifiers.org/clinvar/182652 ^@ NM_000179.2(MSH6):c.67G>A (p.Ala23Thr) http://identifiers.org/clinvar/182675 ^@ NM_000179.2(MSH6):c.74C>T (p.Ala25Val) http://identifiers.org/clinvar/182653 ^@ NM_000179.2(MSH6):c.97C>G (p.Arg33Gly) http://identifiers.org/clinvar/182654 ^@ NM_000179.2(MSH6):c.97C>T (p.Arg33Cys) http://identifiers.org/clinvar/182655 ^@ NM_000179.2(MSH6):c.197C>A (p.Pro66Gln) http://identifiers.org/clinvar/182676 ^@ NM_000179.2(MSH6):c.321T>C (p.Pro107=) http://identifiers.org/clinvar/182662 ^@ NM_000179.2(MSH6):c.364G>A (p.Glu122Lys) http://identifiers.org/clinvar/182656 ^@ NM_000179.2(MSH6):c.532C>T (p.Arg178Cys) http://identifiers.org/clinvar/182610 ^@ NM_000179.2(MSH6):c.680G>A (p.Ser227Asn) http://identifiers.org/clinvar/182679 ^@ NM_000179.2(MSH6):c.702_703insT (p.Thr235Tyrfs) http://identifiers.org/clinvar/182611 ^@ NM_000179.2(MSH6):c.728G>A (p.Arg243His) http://identifiers.org/clinvar/182612 ^@ NM_000179.2(MSH6):c.831A>C (p.Glu277Asp) http://identifiers.org/clinvar/182613 ^@ NM_000179.2(MSH6):c.866G>C (p.Gly289Ala) http://identifiers.org/clinvar/182614 ^@ NM_000179.2(MSH6):c.933A>T (p.Lys311Asn) http://identifiers.org/clinvar/182657 ^@ NM_000179.2(MSH6):c.979A>G (p.Thr327Ala) http://identifiers.org/clinvar/182615 ^@ NM_000179.2(MSH6):c.1028C>G (p.Pro343Arg) http://identifiers.org/clinvar/182658 ^@ NM_000179.2(MSH6):c.1030C>G (p.Gln344Glu) http://identifiers.org/clinvar/182643 ^@ NM_000179.2(MSH6):c.1050C>T (p.Ala350=) http://identifiers.org/clinvar/182616 ^@ NM_000179.2(MSH6):c.1052A>G (p.His351Arg) http://identifiers.org/clinvar/182617 ^@ NM_000179.2(MSH6):c.1054G>A (p.Val352Ile) http://identifiers.org/clinvar/182618 ^@ NM_000179.2(MSH6):c.1061G>T (p.Gly354Val) http://identifiers.org/clinvar/182619 ^@ NM_000179.2(MSH6):c.1151G>T (p.Arg384Met) http://identifiers.org/clinvar/182620 ^@ NM_000179.2(MSH6):c.1190A>G (p.Tyr397Cys) http://identifiers.org/clinvar/182621 ^@ NM_000179.2(MSH6):c.1214C>G (p.Ser405Cys) http://identifiers.org/clinvar/182622 ^@ NM_000179.2(MSH6):c.1618C>G (p.Leu540Val) http://identifiers.org/clinvar/182623 ^@ NM_000179.2(MSH6):c.1661G>A (p.Arg554His) http://identifiers.org/clinvar/182624 ^@ NM_000179.2(MSH6):c.1667A>G (p.Tyr556Cys) http://identifiers.org/clinvar/182625 ^@ NM_000179.2(MSH6):c.1757T>C (p.Val586Ala) http://identifiers.org/clinvar/182659 ^@ NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter) http://identifiers.org/clinvar/182626 ^@ NM_000179.2(MSH6):c.1822A>G (p.Ile608Val) http://identifiers.org/clinvar/182627 ^@ NM_000179.2(MSH6):c.1830G>C (p.Lys610Asn) http://identifiers.org/clinvar/182678 ^@ NM_000179.2(MSH6):c.1842delC (p.Cys615Valfs) http://identifiers.org/clinvar/182628 ^@ NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) http://identifiers.org/clinvar/182663 ^@ NM_000179.2(MSH6):c.1869C>T (p.Pro623=) http://identifiers.org/clinvar/182629 ^@ NM_000179.2(MSH6):c.1974G>A (p.Val658=) http://identifiers.org/clinvar/182630 ^@ NM_000179.2(MSH6):c.1999G>C (p.Asp667His) http://identifiers.org/clinvar/182631 ^@ NM_000179.2(MSH6):c.2069A>T (p.Tyr690Phe) http://identifiers.org/clinvar/182632 ^@ NM_000179.2(MSH6):c.2138A>G (p.Asp713Gly) http://identifiers.org/clinvar/182633 ^@ NM_000179.2(MSH6):c.2141C>G (p.Ser714Cys) http://identifiers.org/clinvar/182664 ^@ NM_000179.2(MSH6):c.2187C>A (p.Ala729=) http://identifiers.org/clinvar/182660 ^@ NM_000179.2(MSH6):c.2249C>A (p.Thr750Lys) http://identifiers.org/clinvar/182634 ^@ NM_000179.2(MSH6):c.2260A>C (p.Thr754Pro) http://identifiers.org/clinvar/182635 ^@ NM_000179.2(MSH6):c.2341C>A (p.Pro781Thr) http://identifiers.org/clinvar/182661 ^@ NM_000179.2(MSH6):c.2417C>G (p.Ser806Cys) http://identifiers.org/clinvar/182636 ^@ NM_000179.2(MSH6):c.2629G>A (p.Glu877Lys) http://identifiers.org/clinvar/182637 ^@ NM_000179.2(MSH6):c.2664G>C (p.Lys888Asn) http://identifiers.org/clinvar/182680 ^@ NM_000179.2(MSH6):c.2832_2833delAA (p.Ile944Metfs) http://identifiers.org/clinvar/182665 ^@ NM_000179.2(MSH6):c.2925C>T (p.Asn975=) http://identifiers.org/clinvar/182666 ^@ NM_000179.2(MSH6):c.2940A>G (p.Glu980=) http://identifiers.org/clinvar/182638 ^@ NM_000179.2(MSH6):c.2941A>G (p.Ile981Val) http://identifiers.org/clinvar/182639 ^@ NM_000179.2(MSH6):c.2992T>A (p.Ser998Thr) http://identifiers.org/clinvar/182640 ^@ NM_000179.2(MSH6):c.3071G>A (p.Arg1024Gln) http://identifiers.org/clinvar/182641 ^@ NM_000179.2(MSH6):c.3104G>T (p.Arg1035Leu) http://identifiers.org/clinvar/182642 ^@ NM_000179.2(MSH6):c.3111C>G (p.Phe1037Leu) http://identifiers.org/clinvar/182644 ^@ NM_000179.2(MSH6):c.3200G>C (p.Ser1067Thr) http://identifiers.org/clinvar/182645 ^@ NM_000179.2(MSH6):c.3220A>G (p.Met1074Val) http://identifiers.org/clinvar/182667 ^@ NM_000179.2(MSH6):c.3264C>T (p.Phe1088=) http://identifiers.org/clinvar/182646 ^@ NM_000179.2(MSH6):c.3398C>T (p.Thr1133Ile) http://identifiers.org/clinvar/182668 ^@ NM_000179.2(MSH6):c.3439-10T>A http://identifiers.org/clinvar/182647 ^@ NM_000179.2(MSH6):c.3517G>A (p.Val1173Met) http://identifiers.org/clinvar/182681 ^@ NM_000179.2(MSH6):c.3523_3524dupAC (p.Arg1176Leufs) http://identifiers.org/clinvar/182670 ^@ NM_000179.2(MSH6):c.3675G>A (p.Thr1225=) http://identifiers.org/clinvar/182648 ^@ NM_000179.2(MSH6):c.3686A>G (p.Asn1229Ser) http://identifiers.org/clinvar/182682 ^@ NM_000179.2(MSH6):c.3690delA (p.Val1231Leufs) http://identifiers.org/clinvar/182649 ^@ NM_000179.2(MSH6):c.3919A>C (p.Asn1307His) http://identifiers.org/clinvar/182683 ^@ NM_000179.2(MSH6):c.3939_3940dupTC (p.Gln1314Leufs) http://identifiers.org/clinvar/182671 ^@ NM_000179.2(MSH6):c.3960A>G (p.Ala1320=) http://identifiers.org/clinvar/182672 ^@ NM_000179.2(MSH6):c.4001+12_4001+15dupACTA http://identifiers.org/clinvar/182673 ^@ NM_000179.2(MSH6):c.4002-19T>C http://identifiers.org/clinvar/182650 ^@ NM_000179.2(MSH6):c.4039G>C (p.Ala1347Pro) http://identifiers.org/clinvar/182651 ^@ NM_000179.2(MSH6):c.4068G>C (p.Leu1356Phe) http://identifiers.org/clinvar/182985 ^@ NM_000551.3(VHL):c.-54_-35dup20 http://identifiers.org/clinvar/182989 ^@ NM_000551.3(VHL):c.-5A>C http://identifiers.org/clinvar/182981 ^@ NM_000551.3(VHL):c.5C>T (p.Pro2Leu) http://identifiers.org/clinvar/182987 ^@ NM_000551.3(VHL):c.-9_5dupGCGGAGGGAATGCC (p.Ala5Glufs) http://identifiers.org/clinvar/182982 ^@ NM_000551.3(VHL):c.154G>T (p.Glu52Ter) http://identifiers.org/clinvar/182986 ^@ NM_000551.3(VHL):c.180delG (p.Val62Cysfs) http://identifiers.org/clinvar/182972 ^@ NM_000551.3(VHL):c.192delC (p.Ser65Argfs) http://identifiers.org/clinvar/182975 ^@ NM_000551.3(VHL):c.194C>T (p.Ser65Leu) http://identifiers.org/clinvar/182988 ^@ NM_000551.3(VHL):c.219_220delGG (p.Gln73Hisfs) http://identifiers.org/clinvar/182977 ^@ NM_000551.3(VHL):c.257C>T (p.Pro86Leu) http://identifiers.org/clinvar/182978 ^@ NM_000551.3(VHL):c.263G>A (p.Trp88Ter) http://identifiers.org/clinvar/182979 ^@ NM_000551.3(VHL):c.266T>C (p.Leu89Pro) http://identifiers.org/clinvar/182980 ^@ NM_000551.3(VHL):c.473T>C (p.Leu158Pro) http://identifiers.org/clinvar/182959 ^@ NM_000551.3(VHL):c.477delA (p.Glu160Serfs) http://identifiers.org/clinvar/182983 ^@ NM_000551.3(VHL):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/182984 ^@ NM_000551.3(VHL):c.572A>C (p.His191Pro) http://identifiers.org/clinvar/182971 ^@ NM_000551.3(VHL):c.614_615delGC (p.Arg205Hisfs) http://identifiers.org/clinvar/182990 ^@ NM_000551.3(VHL):c.631A>C (p.Met211Leu) http://identifiers.org/clinvar/182531 ^@ NM_000249.3(MLH1):c.-14C>T http://identifiers.org/clinvar/182532 ^@ NM_000249.3(MLH1):c.-12T>C http://identifiers.org/clinvar/182533 ^@ NM_000249.3(MLH1):c.5C>T (p.Ser2Leu) http://identifiers.org/clinvar/182534 ^@ NM_000249.3(MLH1):c.19G>T (p.Val7Phe) http://identifiers.org/clinvar/182535 ^@ NM_000249.3(MLH1):c.108T>G (p.Ile36Met) http://identifiers.org/clinvar/182512 ^@ NM_000249.3(MLH1):c.155_156delAA (p.Lys52Argfs) http://identifiers.org/clinvar/182513 ^@ NM_000249.3(MLH1):c.209_215delAAGAAGA (p.Lys70Ilefs) http://identifiers.org/clinvar/182514 ^@ NM_000249.3(MLH1):c.362A>G (p.Asp121Gly) http://identifiers.org/clinvar/182515 ^@ NM_000249.3(MLH1):c.371G>A (p.Cys124Tyr) http://identifiers.org/clinvar/182516 ^@ NM_000249.3(MLH1):c.380G>T (p.Arg127Ile) http://identifiers.org/clinvar/182517 ^@ NM_000249.3(MLH1):c.589-10T>G http://identifiers.org/clinvar/182509 ^@ NM_000249.3(MLH1):c.700_701delGAinsTT (p.Glu234Leu) http://identifiers.org/clinvar/182519 ^@ NM_000249.3(MLH1):c.776T>C (p.Leu259Ser) http://identifiers.org/clinvar/182520 ^@ NM_000249.3(MLH1):c.790C>G (p.His264Asp) http://identifiers.org/clinvar/182536 ^@ NM_000249.3(MLH1):c.843A>C (p.Ala281=) http://identifiers.org/clinvar/182521 ^@ NM_000249.3(MLH1):c.862A>G (p.Thr288Ala) http://identifiers.org/clinvar/182537 ^@ NM_000249.3(MLH1):c.884+16A>G http://identifiers.org/clinvar/182522 ^@ NM_000249.3(MLH1):c.976G>A (p.Val326Met) http://identifiers.org/clinvar/182538 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTA http://identifiers.org/clinvar/182518 ^@ NM_000249.3(MLH1):c.1039-3C>G http://identifiers.org/clinvar/182523 ^@ NM_000249.3(MLH1):c.1070G>T (p.Gly357Val) http://identifiers.org/clinvar/182524 ^@ NM_000249.3(MLH1):c.1243G>A (p.Asp415Asn) http://identifiers.org/clinvar/182541 ^@ NM_000249.3(MLH1):c.1269G>A (p.Arg423=) http://identifiers.org/clinvar/182525 ^@ NM_000249.3(MLH1):c.1450G>T (p.Asp484Tyr) http://identifiers.org/clinvar/182542 ^@ NM_000249.3(MLH1):c.1558+6T>C http://identifiers.org/clinvar/182543 ^@ NM_000249.3(MLH1):c.1559-11T>C http://identifiers.org/clinvar/182526 ^@ NM_000249.3(MLH1):c.1628A>G (p.His543Arg) http://identifiers.org/clinvar/182527 ^@ NM_000249.3(MLH1):c.1696T>C (p.Tyr566His) http://identifiers.org/clinvar/182528 ^@ NM_000249.3(MLH1):c.1730C>G (p.Ser577Trp) http://identifiers.org/clinvar/182544 ^@ NM_000249.3(MLH1):c.1897-14T>C http://identifiers.org/clinvar/182529 ^@ NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter) http://identifiers.org/clinvar/182530 ^@ NM_000249.3(MLH1):c.2071A>G (p.Ile691Val) http://identifiers.org/clinvar/182796 ^@ NM_016081.3(PALLD):c.-83+8A>G http://identifiers.org/clinvar/182794 ^@ NM_016081.3(PALLD):c.3205C>T (p.Leu1069=) http://identifiers.org/clinvar/182795 ^@ NM_016081.3(PALLD):c.3308-14_3308-13delCT http://identifiers.org/clinvar/182462 ^@ NM_139076.2(FAM175A):c.476+18A>T http://identifiers.org/clinvar/182464 ^@ NM_139076.2(FAM175A):c.33G>C (p.Ser11=) http://identifiers.org/clinvar/182463 ^@ NM_139076.2(FAM175A):c.-4T>C http://identifiers.org/clinvar/181830 ^@ NM_000038.5(APC):c.136-15T>A http://identifiers.org/clinvar/181831 ^@ NM_000038.5(APC):c.288T>A (p.Tyr96Ter) http://identifiers.org/clinvar/181832 ^@ NM_000038.5(APC):c.296G>A (p.Arg99Gln) http://identifiers.org/clinvar/181781 ^@ NM_000038.5(APC):c.423-4delA http://identifiers.org/clinvar/181833 ^@ NM_000038.5(APC):c.423-1G>C http://identifiers.org/clinvar/181782 ^@ NM_000038.5(APC):c.450A>G (p.Lys150=) http://identifiers.org/clinvar/181783 ^@ NM_000038.5(APC):c.918T>G (p.Ser306Arg) http://identifiers.org/clinvar/181767 ^@ NM_000038.5(APC):c.974A>G (p.His325Arg) http://identifiers.org/clinvar/181784 ^@ NM_000038.5(APC):c.1154C>T (p.Ala385Val) http://identifiers.org/clinvar/181785 ^@ NM_000038.5(APC):c.1241G>A (p.Arg414His) http://identifiers.org/clinvar/181786 ^@ NM_000038.5(APC):c.1290C>T (p.Gly430=) http://identifiers.org/clinvar/181787 ^@ NM_000038.5(APC):c.1291A>G (p.Met431Val) http://identifiers.org/clinvar/181775 ^@ NM_000038.5(APC):c.1312+3_1312+4delAT http://identifiers.org/clinvar/181777 ^@ NM_000038.5(APC):c.1313-9A>G http://identifiers.org/clinvar/181788 ^@ NM_000038.5(APC):c.1391A>G (p.His464Arg) http://identifiers.org/clinvar/181789 ^@ NM_000038.5(APC):c.1450G>C (p.Glu484Gln) http://identifiers.org/clinvar/181790 ^@ NM_000038.5(APC):c.1867C>T (p.Arg623Trp) http://identifiers.org/clinvar/181791 ^@ NM_000038.5(APC):c.1904G>C (p.Gly635Ala) http://identifiers.org/clinvar/181792 ^@ NM_000038.5(APC):c.1987C>T (p.Gln663Ter) http://identifiers.org/clinvar/181793 ^@ NM_000038.5(APC):c.2461G>A (p.Val821Ile) http://identifiers.org/clinvar/181794 ^@ NM_000038.5(APC):c.2593C>G (p.Pro865Ala) http://identifiers.org/clinvar/181795 ^@ NM_000038.5(APC):c.2659A>G (p.Ile887Val) http://identifiers.org/clinvar/181768 ^@ NM_000038.5(APC):c.2782G>A (p.Ala928Thr) http://identifiers.org/clinvar/181796 ^@ NM_000038.5(APC):c.2786A>C (p.His929Pro) http://identifiers.org/clinvar/181769 ^@ NM_000038.5(APC):c.2933A>C (p.Gln978Pro) http://identifiers.org/clinvar/181797 ^@ NM_000038.5(APC):c.2957A>G (p.Tyr986Cys) http://identifiers.org/clinvar/181778 ^@ NM_000038.5(APC):c.3006C>T (p.Ala1002=) http://identifiers.org/clinvar/181776 ^@ NM_000038.5(APC):c.3049_3051delAAT (p.Asn1017del) http://identifiers.org/clinvar/181798 ^@ NM_000038.5(APC):c.3073A>G (p.Ile1025Val) http://identifiers.org/clinvar/181799 ^@ NM_000038.5(APC):c.3245C>G (p.Thr1082Ser) http://identifiers.org/clinvar/181800 ^@ NM_000038.5(APC):c.3295G>A (p.Val1099Ile) http://identifiers.org/clinvar/181770 ^@ NM_000038.5(APC):c.3347G>A (p.Gly1116Asp) http://identifiers.org/clinvar/181771 ^@ NM_000038.5(APC):c.3387G>T (p.Leu1129Phe) http://identifiers.org/clinvar/181801 ^@ NM_000038.5(APC):c.3415A>C (p.Lys1139Gln) http://identifiers.org/clinvar/181834 ^@ NM_000038.5(APC):c.3473_3474insGA (p.Pro1159Asnfs) http://identifiers.org/clinvar/181802 ^@ NM_000038.5(APC):c.3560T>C (p.Ile1187Thr) http://identifiers.org/clinvar/181803 ^@ NM_000038.5(APC):c.3602C>G (p.Ser1201Ter) http://identifiers.org/clinvar/181804 ^@ NM_000038.5(APC):c.4063T>C (p.Ser1355Pro) http://identifiers.org/clinvar/181805 ^@ NM_000038.5(APC):c.4073C>T (p.Ala1358Val) http://identifiers.org/clinvar/181806 ^@ NM_000038.5(APC):c.4141C>A (p.Pro1381Thr) http://identifiers.org/clinvar/181807 ^@ NM_000038.5(APC):c.4594G>A (p.Asp1532Asn) http://identifiers.org/clinvar/181772 ^@ NM_000038.5(APC):c.4597A>G (p.Asn1533Asp) http://identifiers.org/clinvar/181808 ^@ NM_000038.5(APC):c.5263G>T (p.Ala1755Ser) http://identifiers.org/clinvar/181809 ^@ NM_000038.5(APC):c.5336T>C (p.Ile1779Thr) http://identifiers.org/clinvar/181835 ^@ NM_000038.5(APC):c.5490_5493delTGAA (p.Asn1830Lysfs) http://identifiers.org/clinvar/181810 ^@ NM_000038.5(APC):c.5779C>A (p.Leu1927Ile) http://identifiers.org/clinvar/181811 ^@ NM_000038.5(APC):c.6099C>G (p.Asp2033Glu) http://identifiers.org/clinvar/181812 ^@ NM_000038.5(APC):c.6124T>C (p.Cys2042Arg) http://identifiers.org/clinvar/181773 ^@ NM_000038.5(APC):c.6173G>A (p.Gly2058Asp) http://identifiers.org/clinvar/181779 ^@ NM_000038.5(APC):c.6526T>C (p.Leu2176=) http://identifiers.org/clinvar/181813 ^@ NM_000038.5(APC):c.6662T>C (p.Met2221Thr) http://identifiers.org/clinvar/181814 ^@ NM_000038.5(APC):c.6670A>G (p.Ile2224Val) http://identifiers.org/clinvar/181815 ^@ NM_000038.5(APC):c.6694C>G (p.His2232Asp) http://identifiers.org/clinvar/181816 ^@ NM_000038.5(APC):c.7174C>A (p.Pro2392Thr) http://identifiers.org/clinvar/181817 ^@ NM_000038.5(APC):c.7214A>G (p.Asn2405Ser) http://identifiers.org/clinvar/181818 ^@ NM_000038.5(APC):c.7255A>G (p.Met2419Val) http://identifiers.org/clinvar/181819 ^@ NM_000038.5(APC):c.7264A>G (p.Thr2422Ala) http://identifiers.org/clinvar/181820 ^@ NM_000038.5(APC):c.7273A>G (p.Ser2425Gly) http://identifiers.org/clinvar/181821 ^@ NM_000038.5(APC):c.7298A>G (p.Glu2433Gly) http://identifiers.org/clinvar/181822 ^@ NM_000038.5(APC):c.7528A>G (p.Asn2510Asp) http://identifiers.org/clinvar/181823 ^@ NM_000038.5(APC):c.7583T>C (p.Ile2528Thr) http://identifiers.org/clinvar/181824 ^@ NM_000038.5(APC):c.7588C>T (p.Arg2530Trp) http://identifiers.org/clinvar/181825 ^@ NM_000038.5(APC):c.7596T>G (p.His2532Gln) http://identifiers.org/clinvar/181826 ^@ NM_000038.5(APC):c.7797A>C (p.Lys2599Asn) http://identifiers.org/clinvar/181827 ^@ NM_000038.5(APC):c.7877C>T (p.Thr2626Ile) http://identifiers.org/clinvar/181828 ^@ NM_000038.5(APC):c.7892C>T (p.Ser2631Phe) http://identifiers.org/clinvar/181829 ^@ NM_000038.5(APC):c.8107A>G (p.Lys2703Glu) http://identifiers.org/clinvar/182824 ^@ NM_005732.3(RAD50):c.-38A>G http://identifiers.org/clinvar/182819 ^@ NM_005732.3(RAD50):c.756+7delT http://identifiers.org/clinvar/182820 ^@ NM_005732.3(RAD50):c.885+11G>A http://identifiers.org/clinvar/182822 ^@ NM_005732.3(RAD50):c.3476-12_3476-10delTTC http://identifiers.org/clinvar/182823 ^@ NM_005732.3(RAD50):c.3861C>T (p.Tyr1287=) http://identifiers.org/clinvar/182999 ^@ NM_005431.1(XRCC2):c.826G>A (p.Gly276Arg) http://identifiers.org/clinvar/183004 ^@ NM_005431.1(XRCC2):c.808_810delTTT (p.Phe270del) http://identifiers.org/clinvar/183002 ^@ NM_005431.1(XRCC2):c.770C>T (p.Ser257Leu) http://identifiers.org/clinvar/182998 ^@ NM_005431.1(XRCC2):c.678T>G (p.Tyr226Ter) http://identifiers.org/clinvar/182997 ^@ NM_005431.1(XRCC2):c.613T>G (p.Ser205Ala) http://identifiers.org/clinvar/182996 ^@ NM_005431.1(XRCC2):c.596T>C (p.Met199Thr) http://identifiers.org/clinvar/182995 ^@ NM_005431.1(XRCC2):c.562C>T (p.Arg188Cys) http://identifiers.org/clinvar/182994 ^@ NM_005431.1(XRCC2):c.271C>T (p.Arg91Trp) http://identifiers.org/clinvar/182993 ^@ NM_005431.1(XRCC2):c.254A>C (p.Tyr85Ser) http://identifiers.org/clinvar/182992 ^@ NM_005431.1(XRCC2):c.182T>C (p.Leu61Pro) http://identifiers.org/clinvar/183001 ^@ NM_005431.1(XRCC2):c.122-3C>T http://identifiers.org/clinvar/182991 ^@ NM_005431.1(XRCC2):c.115G>A (p.Val39Met) http://identifiers.org/clinvar/183003 ^@ NM_005431.1(XRCC2):c.96delT (p.Phe32Leufs) http://identifiers.org/clinvar/183000 ^@ NM_005431.1(XRCC2):c.40-13C>A http://identifiers.org/clinvar/182803 ^@ NM_000535.6(PMS2):c.1126C>T (p.Pro376Ser) http://identifiers.org/clinvar/182802 ^@ NM_000535.6(PMS2):c.1075T>G (p.Leu359Val) http://identifiers.org/clinvar/182818 ^@ NM_000535.6(PMS2):c.779_780delCCinsTG (p.Ser260Leu) http://identifiers.org/clinvar/182801 ^@ NM_000535.6(PMS2):c.751G>A (p.Val251Met) http://identifiers.org/clinvar/182812 ^@ NM_000535.6(PMS2):c.706-13T>C http://identifiers.org/clinvar/182800 ^@ NM_000535.6(PMS2):c.697C>G (p.Gln233Glu) http://identifiers.org/clinvar/182799 ^@ NM_000535.6(PMS2):c.685T>C (p.Ser229Pro) http://identifiers.org/clinvar/182798 ^@ NM_000535.6(PMS2):c.647G>T (p.Cys216Phe) http://identifiers.org/clinvar/182797 ^@ NM_000535.6(PMS2):c.607A>G (p.Thr203Ala) http://identifiers.org/clinvar/182811 ^@ NM_000535.6(PMS2):c.506G>A (p.Arg169His) http://identifiers.org/clinvar/182810 ^@ NM_000535.6(PMS2):c.505C>T (p.Arg169Cys) http://identifiers.org/clinvar/182816 ^@ NM_000535.6(PMS2):c.255G>A (p.Leu85=) http://identifiers.org/clinvar/182815 ^@ NM_000535.6(PMS2):c.251-12A>C http://identifiers.org/clinvar/182817 ^@ NM_000535.6(PMS2):c.241G>A (p.Glu81Lys) http://identifiers.org/clinvar/182808 ^@ NM_000535.6(PMS2):c.215G>A (p.Gly72Glu) http://identifiers.org/clinvar/182807 ^@ NM_000535.6(PMS2):c.206C>T (p.Ser69Leu) http://identifiers.org/clinvar/182806 ^@ NM_000535.6(PMS2):c.199G>A (p.Glu67Lys) http://identifiers.org/clinvar/182805 ^@ NM_000535.6(PMS2):c.149G>A (p.Gly50Asp) http://identifiers.org/clinvar/182804 ^@ NM_000535.6(PMS2):c.100A>C (p.Ser34Arg) http://identifiers.org/clinvar/182809 ^@ NM_000535.6(PMS2):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/182814 ^@ NM_000535.6(PMS2):c.-18G>C http://identifiers.org/clinvar/182813 ^@ NM_000535.6(PMS2):c.-33C>T http://identifiers.org/clinvar/182710 ^@ NM_002485.4(NBN):c.2235-18C>T http://identifiers.org/clinvar/182730 ^@ NM_002485.4(NBN):c.2215C>G (p.Leu739Val) http://identifiers.org/clinvar/182709 ^@ NM_002485.4(NBN):c.2184+8G>C http://identifiers.org/clinvar/182737 ^@ NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) http://identifiers.org/clinvar/182728 ^@ NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) http://identifiers.org/clinvar/182727 ^@ NM_002485.4(NBN):c.2029G>A (p.Asp677Asn) http://identifiers.org/clinvar/182725 ^@ NM_002485.4(NBN):c.1708A>G (p.Thr570Ala) http://identifiers.org/clinvar/182724 ^@ NM_002485.4(NBN):c.1701C>G (p.Phe567Leu) http://identifiers.org/clinvar/182723 ^@ NM_002485.4(NBN):c.1619A>G (p.His540Arg) http://identifiers.org/clinvar/182736 ^@ NM_002485.4(NBN):c.1486G>A (p.Ala496Thr) http://identifiers.org/clinvar/182722 ^@ NM_002485.4(NBN):c.1404G>T (p.Arg468Ser) http://identifiers.org/clinvar/182707 ^@ NM_002485.4(NBN):c.1398-19C>T http://identifiers.org/clinvar/182721 ^@ NM_002485.4(NBN):c.1397+2T>A http://identifiers.org/clinvar/182720 ^@ NM_002485.4(NBN):c.1343A>T (p.Gln448Leu) http://identifiers.org/clinvar/182719 ^@ NM_002485.4(NBN):c.1255A>G (p.Asn419Asp) http://identifiers.org/clinvar/182706 ^@ NM_002485.4(NBN):c.1089C>T (p.Tyr363=) http://identifiers.org/clinvar/182718 ^@ NM_002485.4(NBN):c.968G>A (p.Cys323Tyr) http://identifiers.org/clinvar/182735 ^@ NM_002485.4(NBN):c.938C>T (p.Ala313Val) http://identifiers.org/clinvar/182702 ^@ NM_002485.4(NBN):c.817dupA (p.Thr273Asnfs) http://identifiers.org/clinvar/182717 ^@ NM_002485.4(NBN):c.815A>G (p.Asp272Gly) http://identifiers.org/clinvar/182734 ^@ NM_002485.4(NBN):c.803C>T (p.Thr268Met) http://identifiers.org/clinvar/182716 ^@ NM_002485.4(NBN):c.775G>A (p.Glu259Lys) http://identifiers.org/clinvar/182715 ^@ NM_002485.4(NBN):c.655A>C (p.Lys219Gln) http://identifiers.org/clinvar/182714 ^@ NM_002485.4(NBN):c.613A>G (p.Ile205Val) http://identifiers.org/clinvar/182713 ^@ NM_002485.4(NBN):c.596C>G (p.Pro199Arg) http://identifiers.org/clinvar/182733 ^@ NM_002485.4(NBN):c.523G>A (p.Glu175Lys) http://identifiers.org/clinvar/182729 ^@ NM_002485.4(NBN):c.468A>C (p.Lys156Asn) http://identifiers.org/clinvar/182704 ^@ NM_002485.4(NBN):c.353_355delCTT (p.Ser118del) http://identifiers.org/clinvar/182726 ^@ NM_002485.4(NBN):c.289A>G (p.Ile97Val) http://identifiers.org/clinvar/182703 ^@ NM_002485.4(NBN):c.105_135del31 (p.Ile35Metfs) http://identifiers.org/clinvar/182732 ^@ NM_002485.4(NBN):c.35G>C (p.Gly12Ala) http://identifiers.org/clinvar/182731 ^@ NM_002485.4(NBN):c.16C>T (p.Pro6Ser) http://identifiers.org/clinvar/182712 ^@ NM_002485.4(NBN):c.-26G>A http://identifiers.org/clinvar/182711 ^@ NM_002485.4(NBN):c.-40C>T http://identifiers.org/clinvar/182420 ^@ NM_000077.4(CDKN2A):c.434T>C (p.Ile145Thr) http://identifiers.org/clinvar/182419 ^@ NM_000077.4(CDKN2A):c.365G>T (p.Gly122Val) http://identifiers.org/clinvar/182423 ^@ NM_000077.4(CDKN2A):c.322G>T (p.Asp108Tyr) http://identifiers.org/clinvar/182413 ^@ NM_000077.4(CDKN2A):c.320G>A (p.Arg107His) http://identifiers.org/clinvar/182412 ^@ NM_000077.4(CDKN2A):c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) http://identifiers.org/clinvar/182411 ^@ NM_000077.4(CDKN2A):c.225_243del19 (p.Ala76Cysfs) http://identifiers.org/clinvar/182418 ^@ NM_000077.4(CDKN2A):c.219C>G (p.Ala73=) http://identifiers.org/clinvar/182417 ^@ NM_000077.4(CDKN2A):c.186G>A (p.Leu62=) http://identifiers.org/clinvar/182416 ^@ NM_000077.4(CDKN2A):c.151-1G>C http://identifiers.org/clinvar/182409 ^@ NM_000077.4(CDKN2A):c.131_132insAA (p.Tyr44Terfs) http://identifiers.org/clinvar/182408 ^@ NM_000077.4(CDKN2A):c.46_47insGGC (p.Trp15_Leu16insArg) http://identifiers.org/clinvar/182422 ^@ NM_000077.4(CDKN2A):c.45G>T (p.Trp15Cys) http://identifiers.org/clinvar/182415 ^@ NM_000077.4(CDKN2A):c.-31G>A http://identifiers.org/clinvar/182414 ^@ NM_000077.4(CDKN2A):c.-34G>T http://identifiers.org/clinvar/182421 ^@ NM_058195.3(CDKN2A):c.-28C>G http://identifiers.org/clinvar/182492 ^@ NM_000136.2(FANCC):c.1643G>A (p.Arg548Gln) http://identifiers.org/clinvar/182491 ^@ NM_000136.2(FANCC):c.1597T>G (p.Trp533Gly) http://identifiers.org/clinvar/182490 ^@ NM_000136.2(FANCC):c.1534-5T>G http://identifiers.org/clinvar/182489 ^@ NM_000136.2(FANCC):c.1516T>C (p.Trp506Arg) http://identifiers.org/clinvar/182501 ^@ NM_000136.2(FANCC):c.1509G>A (p.Thr503=) http://identifiers.org/clinvar/182488 ^@ NM_000136.2(FANCC):c.1493C>T (p.Ala498Val) http://identifiers.org/clinvar/182468 ^@ NM_000136.2(FANCC):c.1387_1388delTC (p.Ala464Profs) http://identifiers.org/clinvar/182487 ^@ NM_000136.2(FANCC):c.1363G>C (p.Ala455Pro) http://identifiers.org/clinvar/182486 ^@ NM_000136.2(FANCC):c.1316G>A (p.Arg439Lys) http://identifiers.org/clinvar/182467 ^@ NM_000136.2(FANCC):c.1302dupT (p.Gly435Trpfs) http://identifiers.org/clinvar/182485 ^@ NM_000136.2(FANCC):c.1249G>A (p.Glu417Lys) http://identifiers.org/clinvar/182484 ^@ NM_000136.2(FANCC):c.1201G>A (p.Gly401Arg) http://identifiers.org/clinvar/182483 ^@ NM_000136.2(FANCC):c.1079C>T (p.Pro360Leu) http://identifiers.org/clinvar/182482 ^@ NM_000136.2(FANCC):c.967G>A (p.Val323Ile) http://identifiers.org/clinvar/182470 ^@ NM_000136.2(FANCC):c.938C>T (p.Ala313Val) http://identifiers.org/clinvar/182481 ^@ NM_000136.2(FANCC):c.889A>T (p.Met297Leu) http://identifiers.org/clinvar/182480 ^@ NM_000136.2(FANCC):c.817G>A (p.Glu273Lys) http://identifiers.org/clinvar/182479 ^@ NM_000136.2(FANCC):c.802T>A (p.Cys268Ser) http://identifiers.org/clinvar/182478 ^@ NM_000136.2(FANCC):c.800A>G (p.Asn267Ser) http://identifiers.org/clinvar/182477 ^@ NM_000136.2(FANCC):c.792T>G (p.Ser264Arg) http://identifiers.org/clinvar/182476 ^@ NM_000136.2(FANCC):c.767A>G (p.His256Arg) http://identifiers.org/clinvar/182475 ^@ NM_000136.2(FANCC):c.710C>T (p.Ser237Leu) http://identifiers.org/clinvar/182466 ^@ NM_000136.2(FANCC):c.692_694delAGA (p.Lys231del) http://identifiers.org/clinvar/182474 ^@ NM_000136.2(FANCC):c.650C>T (p.Pro217Leu) http://identifiers.org/clinvar/182473 ^@ NM_000136.2(FANCC):c.556G>A (p.Val186Ile) http://identifiers.org/clinvar/182472 ^@ NM_000136.2(FANCC):c.554G>A (p.Arg185Gln) http://identifiers.org/clinvar/182500 ^@ NM_000136.2(FANCC):c.531C>T (p.Pro177=) http://identifiers.org/clinvar/182499 ^@ NM_000136.2(FANCC):c.522-4A>G http://identifiers.org/clinvar/182465 ^@ NM_000136.2(FANCC):c.487_490delGAGA (p.Glu163Ilefs) http://identifiers.org/clinvar/182498 ^@ NM_000136.2(FANCC):c.457-18A>G http://identifiers.org/clinvar/182469 ^@ NM_000136.2(FANCC):c.440C>T (p.Pro147Leu) http://identifiers.org/clinvar/182471 ^@ NM_000136.2(FANCC):c.371C>T (p.Ala124Val) http://identifiers.org/clinvar/182497 ^@ NM_000136.2(FANCC):c.319C>T (p.Gln107Ter) http://identifiers.org/clinvar/182496 ^@ NM_000136.2(FANCC):c.272T>C (p.Ile91Thr) http://identifiers.org/clinvar/182502 ^@ NM_000136.2(FANCC):c.251-20T>C http://identifiers.org/clinvar/182495 ^@ NM_000136.2(FANCC):c.239T>C (p.Ile80Thr) http://identifiers.org/clinvar/182494 ^@ NM_000136.2(FANCC):c.191T>G (p.Phe64Cys) http://identifiers.org/clinvar/182493 ^@ NM_000136.2(FANCC):c.127G>A (p.Glu43Lys) http://identifiers.org/clinvar/182072 ^@ NM_004329.2(BMPR1A):c.-287A>G http://identifiers.org/clinvar/182062 ^@ NM_004329.2(BMPR1A):c.5C>T (p.Pro2Leu) http://identifiers.org/clinvar/182063 ^@ NM_004329.2(BMPR1A):c.47T>G (p.Phe16Cys) http://identifiers.org/clinvar/182064 ^@ NM_004329.2(BMPR1A):c.101G>C (p.Gly34Ala) http://identifiers.org/clinvar/182065 ^@ NM_004329.2(BMPR1A):c.262G>T (p.Glu88Ter) http://identifiers.org/clinvar/182066 ^@ NM_004329.2(BMPR1A):c.629T>C (p.Ile210Thr) http://identifiers.org/clinvar/182067 ^@ NM_004329.2(BMPR1A):c.688A>G (p.Ile230Val) http://identifiers.org/clinvar/182068 ^@ NM_004329.2(BMPR1A):c.911A>G (p.Gln304Arg) http://identifiers.org/clinvar/182069 ^@ NM_004329.2(BMPR1A):c.943G>A (p.Gly315Arg) http://identifiers.org/clinvar/182070 ^@ NM_004329.2(BMPR1A):c.1082G>A (p.Arg361Gln) http://identifiers.org/clinvar/182071 ^@ NM_004329.2(BMPR1A):c.1533A>C (p.Arg511Ser) http://identifiers.org/clinvar/181942 ^@ NM_000051.3(ATM):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/181943 ^@ NM_000051.3(ATM):c.5G>C (p.Ser2Thr) http://identifiers.org/clinvar/181944 ^@ NM_000051.3(ATM):c.76G>C (p.Glu26Gln) http://identifiers.org/clinvar/181945 ^@ NM_000051.3(ATM):c.95G>A (p.Arg32His) http://identifiers.org/clinvar/181946 ^@ NM_000051.3(ATM):c.154G>T (p.Gly52Ter) http://identifiers.org/clinvar/181874 ^@ NM_000051.3(ATM):c.237delA (p.Lys79Asnfs) http://identifiers.org/clinvar/181957 ^@ NM_000051.3(ATM):c.283C>A (p.Gln95Lys) http://identifiers.org/clinvar/181958 ^@ NM_000051.3(ATM):c.322G>A (p.Ala108Thr) http://identifiers.org/clinvar/181867 ^@ NM_000051.3(ATM):c.368delA (p.Tyr123Leufs) http://identifiers.org/clinvar/181903 ^@ NM_000051.3(ATM):c.398A>T (p.Asn133Ile) http://identifiers.org/clinvar/181909 ^@ NM_000051.3(ATM):c.518G>T (p.Arg173Met) http://identifiers.org/clinvar/181911 ^@ NM_000051.3(ATM):c.539A>G (p.Gln180Arg) http://identifiers.org/clinvar/181868 ^@ NM_000051.3(ATM):c.549_550delTA (p.His183Glnfs) http://identifiers.org/clinvar/181912 ^@ NM_000051.3(ATM):c.554T>C (p.Val185Ala) http://identifiers.org/clinvar/181913 ^@ NM_000051.3(ATM):c.742C>T (p.Arg248Ter) http://identifiers.org/clinvar/181914 ^@ NM_000051.3(ATM):c.773T>G (p.Ile258Ser) http://identifiers.org/clinvar/181915 ^@ NM_000051.3(ATM):c.791A>G (p.Tyr264Cys) http://identifiers.org/clinvar/181916 ^@ NM_000051.3(ATM):c.811C>A (p.Leu271Ile) http://identifiers.org/clinvar/181988 ^@ NM_000051.3(ATM):c.1019C>G (p.Ala340Gly) http://identifiers.org/clinvar/181917 ^@ NM_000051.3(ATM):c.1080T>G (p.Asp360Glu) http://identifiers.org/clinvar/181918 ^@ NM_000051.3(ATM):c.1210C>G (p.Gln404Glu) http://identifiers.org/clinvar/181847 ^@ NM_000051.3(ATM):c.1236-3dupT http://identifiers.org/clinvar/181919 ^@ NM_000051.3(ATM):c.1671G>A (p.Met557Ile) http://identifiers.org/clinvar/181920 ^@ NM_000051.3(ATM):c.1727T>C (p.Ile576Thr) http://identifiers.org/clinvar/181989 ^@ NM_000051.3(ATM):c.1748A>G (p.Tyr583Cys) http://identifiers.org/clinvar/181921 ^@ NM_000051.3(ATM):c.1792A>G (p.Ile598Val) http://identifiers.org/clinvar/181922 ^@ NM_000051.3(ATM):c.1837G>T (p.Val613Leu) http://identifiers.org/clinvar/181848 ^@ NM_000051.3(ATM):c.1899-11C>T http://identifiers.org/clinvar/181849 ^@ NM_000051.3(ATM):c.1953A>G (p.Leu651=) http://identifiers.org/clinvar/181923 ^@ NM_000051.3(ATM):c.2011A>G (p.Ile671Val) http://identifiers.org/clinvar/181850 ^@ NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) http://identifiers.org/clinvar/181924 ^@ NM_000051.3(ATM):c.2159G>A (p.Arg720His) http://identifiers.org/clinvar/181925 ^@ NM_000051.3(ATM):c.2192A>T (p.Tyr731Phe) http://identifiers.org/clinvar/181851 ^@ NM_000051.3(ATM):c.2251-18dupT http://identifiers.org/clinvar/181926 ^@ NM_000051.3(ATM):c.2251-10T>G http://identifiers.org/clinvar/181852 ^@ NM_000051.3(ATM):c.2346A>G (p.Leu782=) http://identifiers.org/clinvar/181927 ^@ NM_000051.3(ATM):c.2376+1G>T http://identifiers.org/clinvar/181869 ^@ NM_000051.3(ATM):c.2377-15_2377-12delTTGT http://identifiers.org/clinvar/181928 ^@ NM_000051.3(ATM):c.2396C>T (p.Ala799Val) http://identifiers.org/clinvar/181929 ^@ NM_000051.3(ATM):c.2426C>T (p.Ser809Leu) http://identifiers.org/clinvar/181930 ^@ NM_000051.3(ATM):c.2501A>G (p.Glu834Gly) http://identifiers.org/clinvar/181931 ^@ NM_000051.3(ATM):c.2501A>T (p.Glu834Val) http://identifiers.org/clinvar/181932 ^@ NM_000051.3(ATM):c.2506G>A (p.Glu836Lys) http://identifiers.org/clinvar/181870 ^@ NM_000051.3(ATM):c.2564dupT (p.Met855Ilefs) http://identifiers.org/clinvar/181853 ^@ NM_000051.3(ATM):c.2577C>T (p.Asn859=) http://identifiers.org/clinvar/181933 ^@ NM_000051.3(ATM):c.2598T>G (p.Val866=) http://identifiers.org/clinvar/181990 ^@ NM_000051.3(ATM):c.2635A>G (p.Ile879Val) http://identifiers.org/clinvar/181934 ^@ NM_000051.3(ATM):c.2655A>T (p.Leu885Phe) http://identifiers.org/clinvar/181991 ^@ NM_000051.3(ATM):c.2705A>C (p.Lys902Thr) http://identifiers.org/clinvar/181935 ^@ NM_000051.3(ATM):c.2705A>G (p.Lys902Arg) http://identifiers.org/clinvar/181936 ^@ NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) http://identifiers.org/clinvar/181854 ^@ NM_000051.3(ATM):c.2839-18dupT http://identifiers.org/clinvar/181871 ^@ NM_000051.3(ATM):c.2880delC (p.Leu961Cysfs) http://identifiers.org/clinvar/181872 ^@ NM_000051.3(ATM):c.2897_2899delTTCinsGCCAA (p.Val966Glyfs) http://identifiers.org/clinvar/181855 ^@ NM_000051.3(ATM):c.2921+19dupA http://identifiers.org/clinvar/181937 ^@ NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) http://identifiers.org/clinvar/181992 ^@ NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) http://identifiers.org/clinvar/181938 ^@ NM_000051.3(ATM):c.3085A>T (p.Thr1029Ser) http://identifiers.org/clinvar/181939 ^@ NM_000051.3(ATM):c.3128T>G (p.Val1043Gly) http://identifiers.org/clinvar/181940 ^@ NM_000051.3(ATM):c.3154-2A>G http://identifiers.org/clinvar/181941 ^@ NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) http://identifiers.org/clinvar/181857 ^@ NM_000051.3(ATM):c.3285-9delT http://identifiers.org/clinvar/181993 ^@ NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) http://identifiers.org/clinvar/181947 ^@ NM_000051.3(ATM):c.3304G>T (p.Gly1102Ter) http://identifiers.org/clinvar/181948 ^@ NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) http://identifiers.org/clinvar/181858 ^@ NM_000051.3(ATM):c.3403-14dupA http://identifiers.org/clinvar/181873 ^@ NM_000051.3(ATM):c.3526delC (p.Leu1176Cysfs) http://identifiers.org/clinvar/181859 ^@ NM_000051.3(ATM):c.3577-12delT http://identifiers.org/clinvar/181949 ^@ NM_000051.3(ATM):c.3728A>T (p.Asn1243Ile) http://identifiers.org/clinvar/181950 ^@ NM_000051.3(ATM):c.3747-1G>C http://identifiers.org/clinvar/181951 ^@ NM_000051.3(ATM):c.3832G>A (p.Asp1278Asn) http://identifiers.org/clinvar/181994 ^@ NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) http://identifiers.org/clinvar/181952 ^@ NM_000051.3(ATM):c.3899A>G (p.Tyr1300Cys) http://identifiers.org/clinvar/181953 ^@ NM_000051.3(ATM):c.3961A>G (p.Met1321Val) http://identifiers.org/clinvar/181995 ^@ NM_000051.3(ATM):c.4070C>G (p.Ser1357Cys) http://identifiers.org/clinvar/181860 ^@ NM_000051.3(ATM):c.4109+9A>C http://identifiers.org/clinvar/181954 ^@ NM_000051.3(ATM):c.4110-9C>A http://identifiers.org/clinvar/181880 ^@ NM_000051.3(ATM):c.4143dupT (p.Pro1382Serfs) http://identifiers.org/clinvar/181955 ^@ NM_000051.3(ATM):c.4226C>A (p.Ser1409Tyr) http://identifiers.org/clinvar/181996 ^@ NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) http://identifiers.org/clinvar/181956 ^@ NM_000051.3(ATM):c.4396C>G (p.Arg1466Gly) http://identifiers.org/clinvar/181997 ^@ NM_000051.3(ATM):c.4400A>G (p.Asp1467Gly) http://identifiers.org/clinvar/181861 ^@ NM_000051.3(ATM):c.4437-14dupT http://identifiers.org/clinvar/181959 ^@ NM_000051.3(ATM):c.4466G>A (p.Arg1489His) http://identifiers.org/clinvar/181875 ^@ NM_000051.3(ATM):c.4625dupT (p.Leu1542Phefs) http://identifiers.org/clinvar/181960 ^@ NM_000051.3(ATM):c.4724G>A (p.Arg1575His) http://identifiers.org/clinvar/181961 ^@ NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) http://identifiers.org/clinvar/181962 ^@ NM_000051.3(ATM):c.4792C>A (p.Leu1598Ile) http://identifiers.org/clinvar/181998 ^@ NM_000051.3(ATM):c.4856G>A (p.Arg1619Lys) http://identifiers.org/clinvar/181963 ^@ NM_000051.3(ATM):c.4932G>C (p.Met1644Ile) http://identifiers.org/clinvar/181862 ^@ NM_000051.3(ATM):c.5005+9C>T http://identifiers.org/clinvar/181964 ^@ NM_000051.3(ATM):c.5194G>A (p.Ala1732Thr) http://identifiers.org/clinvar/181876 ^@ NM_000051.3(ATM):c.5201_5202insAT (p.Thr1735Leufs) http://identifiers.org/clinvar/181881 ^@ NM_000051.3(ATM):c.5320-5_5320-2delTCTA http://identifiers.org/clinvar/181965 ^@ NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) http://identifiers.org/clinvar/181966 ^@ NM_000051.3(ATM):c.5377A>C (p.Asn1793His) http://identifiers.org/clinvar/181967 ^@ NM_000051.3(ATM):c.5561C>G (p.Thr1854Arg) http://identifiers.org/clinvar/181968 ^@ NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) http://identifiers.org/clinvar/181969 ^@ NM_000051.3(ATM):c.5674G>A (p.Glu1892Lys) http://identifiers.org/clinvar/181970 ^@ NM_000051.3(ATM):c.5677T>A (p.Ser1893Thr) http://identifiers.org/clinvar/181999 ^@ NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) http://identifiers.org/clinvar/182000 ^@ NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) http://identifiers.org/clinvar/181971 ^@ NM_000051.3(ATM):c.5915A>C (p.Lys1972Thr) http://identifiers.org/clinvar/181972 ^@ NM_000051.3(ATM):c.6007G>A (p.Asp2003Asn) http://identifiers.org/clinvar/181973 ^@ NM_000051.3(ATM):c.6025T>C (p.Tyr2009His) http://identifiers.org/clinvar/181974 ^@ NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) http://identifiers.org/clinvar/181975 ^@ NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) http://identifiers.org/clinvar/181976 ^@ NM_000051.3(ATM):c.6253G>T (p.Asp2085Tyr) http://identifiers.org/clinvar/181977 ^@ NM_000051.3(ATM):c.6257A>T (p.Tyr2086Phe) http://identifiers.org/clinvar/181863 ^@ NM_000051.3(ATM):c.6348-8T>C http://identifiers.org/clinvar/181978 ^@ NM_000051.3(ATM):c.6374A>G (p.His2125Arg) http://identifiers.org/clinvar/181979 ^@ NM_000051.3(ATM):c.6443A>T (p.Lys2148Ile) http://identifiers.org/clinvar/181980 ^@ NM_000051.3(ATM):c.6551G>C (p.Ser2184Thr) http://identifiers.org/clinvar/181882 ^@ NM_000051.3(ATM):c.6604T>G (p.Tyr2202Asp) http://identifiers.org/clinvar/181883 ^@ NM_000051.3(ATM):c.6643A>G (p.Ser2215Gly) http://identifiers.org/clinvar/181884 ^@ NM_000051.3(ATM):c.6671T>C (p.Met2224Thr) http://identifiers.org/clinvar/181981 ^@ NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys) http://identifiers.org/clinvar/181885 ^@ NM_000051.3(ATM):c.6823A>G (p.Ile2275Val) http://identifiers.org/clinvar/181886 ^@ NM_000051.3(ATM):c.7076C>T (p.Thr2359Ile) http://identifiers.org/clinvar/181838 ^@ NM_000051.3(ATM):c.7089+20C>T http://identifiers.org/clinvar/181887 ^@ NM_000051.3(ATM):c.7122A>C (p.Glu2374Asp) http://identifiers.org/clinvar/181888 ^@ NM_000051.3(ATM):c.7223C>T (p.Ser2408Leu) http://identifiers.org/clinvar/181889 ^@ NM_000051.3(ATM):c.7307+4A>G http://identifiers.org/clinvar/181890 ^@ NM_000051.3(ATM):c.7308A>C (p.Arg2436Ser) http://identifiers.org/clinvar/181891 ^@ NM_000051.3(ATM):c.7336G>A (p.Glu2446Lys) http://identifiers.org/clinvar/181982 ^@ NM_000051.3(ATM):c.7375C>G (p.Arg2459Gly) http://identifiers.org/clinvar/181839 ^@ NM_000051.3(ATM):c.7494T>C (p.Ser2498=) http://identifiers.org/clinvar/181983 ^@ NM_000051.3(ATM):c.7552C>T (p.Pro2518Ser) http://identifiers.org/clinvar/181840 ^@ NM_000051.3(ATM):c.7630-7C>A http://identifiers.org/clinvar/181892 ^@ NM_000051.3(ATM):c.7772G>A (p.Ser2591Asn) http://identifiers.org/clinvar/181864 ^@ NM_000051.3(ATM):c.7838_7839dupGA (p.Pro2614Aspfs) http://identifiers.org/clinvar/181841 ^@ NM_000051.3(ATM):c.7927+10T>C http://identifiers.org/clinvar/181984 ^@ NM_000051.3(ATM):c.7997C>A (p.Thr2666Asn) http://identifiers.org/clinvar/181893 ^@ NM_000051.3(ATM):c.8044A>C (p.Thr2682Pro) http://identifiers.org/clinvar/181985 ^@ NM_000051.3(ATM):c.8146G>T (p.Val2716Phe) http://identifiers.org/clinvar/181986 ^@ NM_000051.3(ATM):c.8187A>T (p.Gln2729His) http://identifiers.org/clinvar/181894 ^@ NM_000051.3(ATM):c.8228C>T (p.Thr2743Met) http://identifiers.org/clinvar/181865 ^@ NM_000051.3(ATM):c.8264_8268delATAAG (p.Tyr2755Cysfs) http://identifiers.org/clinvar/181895 ^@ NM_000051.3(ATM):c.8296G>A (p.Val2766Ile) http://identifiers.org/clinvar/181896 ^@ NM_000051.3(ATM):c.8395T>G (p.Phe2799Val) http://identifiers.org/clinvar/181897 ^@ NM_000051.3(ATM):c.8405A>G (p.Gln2802Arg) http://identifiers.org/clinvar/181866 ^@ NM_000051.3(ATM):c.8418+5_8418+8delGTGA http://identifiers.org/clinvar/181842 ^@ NM_000051.3(ATM):c.8418+13C>T http://identifiers.org/clinvar/181877 ^@ NM_000051.3(ATM):c.8419-7_8419-4delTTTA http://identifiers.org/clinvar/181898 ^@ NM_000051.3(ATM):c.8428A>C (p.Lys2810Gln) http://identifiers.org/clinvar/181843 ^@ NM_000051.3(ATM):c.8532T>C (p.Ile2844=) http://identifiers.org/clinvar/181899 ^@ NM_000051.3(ATM):c.8584+2T>C http://identifiers.org/clinvar/181900 ^@ NM_000051.3(ATM):c.8617G>A (p.Val2873Ile) http://identifiers.org/clinvar/181844 ^@ NM_000051.3(ATM):c.8629T>C (p.Leu2877=) http://identifiers.org/clinvar/181845 ^@ NM_000051.3(ATM):c.8672-13T>G http://identifiers.org/clinvar/181901 ^@ NM_000051.3(ATM):c.8717T>C (p.Val2906Ala) http://identifiers.org/clinvar/181902 ^@ NM_000051.3(ATM):c.8762C>A (p.Thr2921Lys) http://identifiers.org/clinvar/181878 ^@ NM_000051.3(ATM):c.8786+19delA http://identifiers.org/clinvar/181904 ^@ NM_000051.3(ATM):c.8918G>T (p.Arg2973Met) http://identifiers.org/clinvar/181846 ^@ NM_000051.3(ATM):c.8922G>A (p.Pro2974=) http://identifiers.org/clinvar/181987 ^@ NM_000051.3(ATM):c.8988-1G>C http://identifiers.org/clinvar/181905 ^@ NM_000051.3(ATM):c.9008A>G (p.Asn3003Ser) http://identifiers.org/clinvar/181906 ^@ NM_000051.3(ATM):c.9031A>G (p.Met3011Val) http://identifiers.org/clinvar/181879 ^@ NM_000051.3(ATM):c.9102_9103delGCinsTT (p.Leu3034_Leu3035delinsPhePhe) http://identifiers.org/clinvar/181907 ^@ NM_000051.3(ATM):c.9151G>C (p.Gly3051Arg) http://identifiers.org/clinvar/181908 ^@ NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) http://identifiers.org/clinvar/182551 ^@ NM_005591.3(MRE11):c.969A>G (p.Pro323=) http://identifiers.org/clinvar/182550 ^@ NM_005591.3(MRE11):c.845+11T>C http://identifiers.org/clinvar/182549 ^@ NM_005591.3(MRE11):c.822T>C (p.Leu274=) http://identifiers.org/clinvar/182548 ^@ NM_005591.3(MRE11):c.771A>G (p.Glu257=) http://identifiers.org/clinvar/182554 ^@ NM_005591.3(MRE11):c.627_628delTT (p.Trp210Valfs) http://identifiers.org/clinvar/182547 ^@ NM_005591.3(MRE11):c.426C>T (p.Asp142=) http://identifiers.org/clinvar/182552 ^@ NM_005591.3(MRE11):c.120C>T (p.Leu40=) http://identifiers.org/clinvar/182553 ^@ NM_005591.3(MRE11):c.77T>C (p.Met26Thr) http://identifiers.org/clinvar/182546 ^@ NM_005591.3(MRE11):c.-95A>G http://identifiers.org/clinvar/182406 ^@ NM_000075.3(CDK4):c.850A>G (p.Ile284Val) http://identifiers.org/clinvar/182405 ^@ NM_000075.3(CDK4):c.779T>A (p.Val260Glu) http://identifiers.org/clinvar/182404 ^@ NM_000075.3(CDK4):c.229G>A (p.Val77Ile) http://identifiers.org/clinvar/182238 ^@ NM_000059.3(BRCA2):c.107C>T (p.Ser36Phe) http://identifiers.org/clinvar/182175 ^@ NM_000059.3(BRCA2):c.452T>C (p.Val151Ala) http://identifiers.org/clinvar/182176 ^@ NM_000059.3(BRCA2):c.475+5G>T http://identifiers.org/clinvar/182177 ^@ NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) http://identifiers.org/clinvar/182277 ^@ NM_000059.3(BRCA2):c.534A>G (p.Lys178=) http://identifiers.org/clinvar/182178 ^@ NM_000059.3(BRCA2):c.589T>G (p.Ser197Ala) http://identifiers.org/clinvar/182278 ^@ NM_000059.3(BRCA2):c.627C>T (p.Leu209=) http://identifiers.org/clinvar/182307 ^@ NM_000059.3(BRCA2):c.670_673dupGATA (p.Thr225Argfs) http://identifiers.org/clinvar/182179 ^@ NM_000059.3(BRCA2):c.680C>T (p.Ala227Val) http://identifiers.org/clinvar/182180 ^@ NM_000059.3(BRCA2):c.710A>G (p.Asp237Gly) http://identifiers.org/clinvar/182181 ^@ NM_000059.3(BRCA2):c.848T>C (p.Ile283Thr) http://identifiers.org/clinvar/182182 ^@ NM_000059.3(BRCA2):c.902A>G (p.Asp301Gly) http://identifiers.org/clinvar/182279 ^@ NM_000059.3(BRCA2):c.1059A>G (p.Ser353=) http://identifiers.org/clinvar/182270 ^@ NM_000059.3(BRCA2):c.1094C>T (p.Pro365Leu) http://identifiers.org/clinvar/182184 ^@ NM_000059.3(BRCA2):c.1351A>G (p.Ser451Gly) http://identifiers.org/clinvar/182280 ^@ NM_000059.3(BRCA2):c.1359A>T (p.Pro453=) http://identifiers.org/clinvar/182281 ^@ NM_000059.3(BRCA2):c.1584C>T (p.Asn528=) http://identifiers.org/clinvar/182185 ^@ NM_000059.3(BRCA2):c.1624A>G (p.Ile542Val) http://identifiers.org/clinvar/182186 ^@ NM_000059.3(BRCA2):c.1694C>T (p.Ala565Val) http://identifiers.org/clinvar/182282 ^@ NM_000059.3(BRCA2):c.1909+9_1909+10delGT http://identifiers.org/clinvar/182283 ^@ NM_000059.3(BRCA2):c.2094A>G (p.Leu698=) http://identifiers.org/clinvar/182284 ^@ NM_000059.3(BRCA2):c.2145A>G (p.Gly715=) http://identifiers.org/clinvar/182187 ^@ NM_000059.3(BRCA2):c.2162C>G (p.Pro721Arg) http://identifiers.org/clinvar/182188 ^@ NM_000059.3(BRCA2):c.2206G>A (p.Ala736Thr) http://identifiers.org/clinvar/182309 ^@ NM_000059.3(BRCA2):c.2380dupA (p.Met794Asnfs) http://identifiers.org/clinvar/182189 ^@ NM_000059.3(BRCA2):c.2446G>A (p.Glu816Lys) http://identifiers.org/clinvar/182285 ^@ NM_000059.3(BRCA2):c.2601T>G (p.Thr867=) http://identifiers.org/clinvar/182190 ^@ NM_000059.3(BRCA2):c.2714A>G (p.Asn905Ser) http://identifiers.org/clinvar/182191 ^@ NM_000059.3(BRCA2):c.2810A>C (p.Gln937Pro) http://identifiers.org/clinvar/182310 ^@ NM_000059.3(BRCA2):c.2959_2961delAAT (p.Asn987del) http://identifiers.org/clinvar/182193 ^@ NM_000059.3(BRCA2):c.3005A>C (p.Asn1002Thr) http://identifiers.org/clinvar/182311 ^@ NM_000059.3(BRCA2):c.3010delA (p.Ser1004Valfs) http://identifiers.org/clinvar/182312 ^@ NM_000059.3(BRCA2):c.3069_3074delCATTAA (p.Asn1023_Ile1024del) http://identifiers.org/clinvar/182194 ^@ NM_000059.3(BRCA2):c.3083A>G (p.Lys1028Arg) http://identifiers.org/clinvar/182195 ^@ NM_000059.3(BRCA2):c.3154G>A (p.Ala1052Thr) http://identifiers.org/clinvar/182196 ^@ NM_000059.3(BRCA2):c.3172A>T (p.Lys1058Ter) http://identifiers.org/clinvar/182197 ^@ NM_000059.3(BRCA2):c.3208G>A (p.Ala1070Thr) http://identifiers.org/clinvar/182198 ^@ NM_000059.3(BRCA2):c.3208G>T (p.Ala1070Ser) http://identifiers.org/clinvar/182199 ^@ NM_000059.3(BRCA2):c.3351A>G (p.Ile1117Met) http://identifiers.org/clinvar/182200 ^@ NM_000059.3(BRCA2):c.3382A>G (p.Thr1128Ala) http://identifiers.org/clinvar/182201 ^@ NM_000059.3(BRCA2):c.3449C>G (p.Thr1150Ser) http://identifiers.org/clinvar/182202 ^@ NM_000059.3(BRCA2):c.3676A>C (p.Lys1226Gln) http://identifiers.org/clinvar/182203 ^@ NM_000059.3(BRCA2):c.3731T>C (p.Ile1244Thr) http://identifiers.org/clinvar/182204 ^@ NM_000059.3(BRCA2):c.3758C>T (p.Ala1253Val) http://identifiers.org/clinvar/182327 ^@ NM_000059.3(BRCA2):c.3820_3823delAAGA (p.Lys1274Terfs) http://identifiers.org/clinvar/182205 ^@ NM_000059.3(BRCA2):c.3929C>T (p.Thr1310Ile) http://identifiers.org/clinvar/182206 ^@ NM_000059.3(BRCA2):c.4079A>G (p.Asp1360Gly) http://identifiers.org/clinvar/182313 ^@ NM_000059.3(BRCA2):c.4112dupA (p.Phe1372Valfs) http://identifiers.org/clinvar/182314 ^@ NM_000059.3(BRCA2):c.4168_4169delTT (p.Leu1390Glyfs) http://identifiers.org/clinvar/182207 ^@ NM_000059.3(BRCA2):c.4195T>C (p.Cys1399Arg) http://identifiers.org/clinvar/182208 ^@ NM_000059.3(BRCA2):c.4211C>T (p.Ser1404Leu) http://identifiers.org/clinvar/182315 ^@ NM_000059.3(BRCA2):c.4277delC (p.Thr1426Asnfs) http://identifiers.org/clinvar/182209 ^@ NM_000059.3(BRCA2):c.4279T>A (p.Phe1427Ile) http://identifiers.org/clinvar/182286 ^@ NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) http://identifiers.org/clinvar/182210 ^@ NM_000059.3(BRCA2):c.4549A>G (p.Lys1517Glu) http://identifiers.org/clinvar/182287 ^@ NM_000059.3(BRCA2):c.4563A>C (p.Leu1521=) http://identifiers.org/clinvar/182211 ^@ NM_000059.3(BRCA2):c.4781T>G (p.Met1594Arg) http://identifiers.org/clinvar/182316 ^@ NM_000059.3(BRCA2):c.4801_4803delGAT (p.Asp1601del) http://identifiers.org/clinvar/182317 ^@ NM_000059.3(BRCA2):c.4824_4825delGA (p.Glu1608Aspfs) http://identifiers.org/clinvar/182212 ^@ NM_000059.3(BRCA2):c.4862G>T (p.Cys1621Phe) http://identifiers.org/clinvar/182288 ^@ NM_000059.3(BRCA2):c.4977C>T (p.Ser1659=) http://identifiers.org/clinvar/182213 ^@ NM_000059.3(BRCA2):c.4981T>C (p.Tyr1661His) http://identifiers.org/clinvar/182214 ^@ NM_000059.3(BRCA2):c.5117A>C (p.Asn1706Thr) http://identifiers.org/clinvar/182215 ^@ NM_000059.3(BRCA2):c.5282G>C (p.Gly1761Ala) http://identifiers.org/clinvar/182216 ^@ NM_000059.3(BRCA2):c.5329A>G (p.Lys1777Glu) http://identifiers.org/clinvar/182217 ^@ NM_000059.3(BRCA2):c.5406A>C (p.Gln1802His) http://identifiers.org/clinvar/182218 ^@ NM_000059.3(BRCA2):c.5418A>C (p.Glu1806Asp) http://identifiers.org/clinvar/182219 ^@ NM_000059.3(BRCA2):c.5644T>C (p.Ser1882Pro) http://identifiers.org/clinvar/182220 ^@ NM_000059.3(BRCA2):c.5687C>A (p.Ala1896Glu) http://identifiers.org/clinvar/182289 ^@ NM_000059.3(BRCA2):c.5700A>G (p.Ser1900=) http://identifiers.org/clinvar/182221 ^@ NM_000059.3(BRCA2):c.5741G>A (p.Ser1914Asn) http://identifiers.org/clinvar/182222 ^@ NM_000059.3(BRCA2):c.5763T>G (p.Phe1921Leu) http://identifiers.org/clinvar/182224 ^@ NM_000059.3(BRCA2):c.6140A>G (p.Tyr2047Cys) http://identifiers.org/clinvar/182271 ^@ NM_000059.3(BRCA2):c.6255A>T (p.Leu2085Phe) http://identifiers.org/clinvar/182318 ^@ NM_000059.3(BRCA2):c.6267_6270dupGCAT (p.Ser2091Alafs) http://identifiers.org/clinvar/182225 ^@ NM_000059.3(BRCA2):c.6500T>C (p.Leu2167Ser) http://identifiers.org/clinvar/182290 ^@ NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) http://identifiers.org/clinvar/182226 ^@ NM_000059.3(BRCA2):c.6538T>G (p.Leu2180Val) http://identifiers.org/clinvar/182227 ^@ NM_000059.3(BRCA2):c.6567C>A (p.Asn2189Lys) http://identifiers.org/clinvar/182228 ^@ NM_000059.3(BRCA2):c.6569T>C (p.Val2190Ala) http://identifiers.org/clinvar/182229 ^@ NM_000059.3(BRCA2):c.6614T>G (p.Val2205Gly) http://identifiers.org/clinvar/182230 ^@ NM_000059.3(BRCA2):c.6652G>C (p.Asp2218His) http://identifiers.org/clinvar/182291 ^@ NM_000059.3(BRCA2):c.6675A>G (p.Thr2225=) http://identifiers.org/clinvar/182231 ^@ NM_000059.3(BRCA2):c.6685G>T (p.Glu2229Ter) http://identifiers.org/clinvar/182232 ^@ NM_000059.3(BRCA2):c.6719T>A (p.Leu2240Gln) http://identifiers.org/clinvar/182233 ^@ NM_000059.3(BRCA2):c.6772G>A (p.Glu2258Lys) http://identifiers.org/clinvar/182292 ^@ NM_000059.3(BRCA2):c.6841+11A>G http://identifiers.org/clinvar/182234 ^@ NM_000059.3(BRCA2):c.6916G>T (p.Ala2306Ser) http://identifiers.org/clinvar/182293 ^@ NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) http://identifiers.org/clinvar/182235 ^@ NM_000059.3(BRCA2):c.6931C>A (p.Pro2311Thr) http://identifiers.org/clinvar/182236 ^@ NM_000059.3(BRCA2):c.7126G>C (p.Ala2376Pro) http://identifiers.org/clinvar/182294 ^@ NM_000059.3(BRCA2):c.7137A>G (p.Gly2379=) http://identifiers.org/clinvar/182272 ^@ NM_000059.3(BRCA2):c.7185C>A (p.His2395Gln) http://identifiers.org/clinvar/182319 ^@ NM_000059.3(BRCA2):c.7380_7381insG (p.Asn2461Glufs) http://identifiers.org/clinvar/182237 ^@ NM_000059.3(BRCA2):c.7402G>A (p.Val2468Ile) http://identifiers.org/clinvar/182240 ^@ NM_000059.3(BRCA2):c.7456A>G (p.Asn2486Asp) http://identifiers.org/clinvar/182295 ^@ NM_000059.3(BRCA2):c.7506C>T (p.Arg2502=) http://identifiers.org/clinvar/182241 ^@ NM_000059.3(BRCA2):c.7523G>A (p.Gly2508Asp) http://identifiers.org/clinvar/182320 ^@ NM_000059.3(BRCA2):c.7588delC (p.Gln2530Lysfs) http://identifiers.org/clinvar/182242 ^@ NM_000059.3(BRCA2):c.7674G>C (p.Glu2558Asp) http://identifiers.org/clinvar/182243 ^@ NM_000059.3(BRCA2):c.7684T>G (p.Phe2562Val) http://identifiers.org/clinvar/182244 ^@ NM_000059.3(BRCA2):c.7709A>G (p.Lys2570Arg) http://identifiers.org/clinvar/182296 ^@ NM_000059.3(BRCA2):c.7805+13A>G http://identifiers.org/clinvar/182245 ^@ NM_000059.3(BRCA2):c.7807G>A (p.Ala2603Thr) http://identifiers.org/clinvar/182246 ^@ NM_000059.3(BRCA2):c.7910C>T (p.Ala2637Val) http://identifiers.org/clinvar/182321 ^@ NM_000059.3(BRCA2):c.7979_7991delATGATACGGAAAT (p.Tyr2660Leufs) http://identifiers.org/clinvar/182247 ^@ NM_000059.3(BRCA2):c.7992T>G (p.Ile2664Met) http://identifiers.org/clinvar/182248 ^@ NM_000059.3(BRCA2):c.8016A>G (p.Ile2672Met) http://identifiers.org/clinvar/182249 ^@ NM_000059.3(BRCA2):c.8140C>G (p.Gln2714Glu) http://identifiers.org/clinvar/182250 ^@ NM_000059.3(BRCA2):c.8157T>G (p.Ile2719Met) http://identifiers.org/clinvar/182273 ^@ NM_000059.3(BRCA2):c.8174G>A (p.Trp2725Ter) http://identifiers.org/clinvar/182322 ^@ NM_000059.3(BRCA2):c.8174_8185delGGTATGCTGTTAinsTT (p.Trp2725Phefs) http://identifiers.org/clinvar/182274 ^@ NM_000059.3(BRCA2):c.8179G>T (p.Ala2727Ser) http://identifiers.org/clinvar/182251 ^@ NM_000059.3(BRCA2):c.8204C>G (p.Pro2735Arg) http://identifiers.org/clinvar/182297 ^@ NM_000059.3(BRCA2):c.8298A>G (p.Thr2766=) http://identifiers.org/clinvar/182298 ^@ NM_000059.3(BRCA2):c.8331+16C>G http://identifiers.org/clinvar/182299 ^@ NM_000059.3(BRCA2):c.8421G>A (p.Ser2807=) http://identifiers.org/clinvar/182252 ^@ NM_000059.3(BRCA2):c.8569G>T (p.Ala2857Ser) http://identifiers.org/clinvar/182323 ^@ NM_000059.3(BRCA2):c.8588_8590dupAAG (p.Glu2863_Ala2864insGlu) http://identifiers.org/clinvar/182300 ^@ NM_000059.3(BRCA2):c.8632+14T>C http://identifiers.org/clinvar/182253 ^@ NM_000059.3(BRCA2):c.8708A>T (p.Glu2903Val) http://identifiers.org/clinvar/182254 ^@ NM_000059.3(BRCA2):c.8765G>A (p.Ser2922Asn) http://identifiers.org/clinvar/182255 ^@ NM_000059.3(BRCA2):c.8805G>A (p.Met2935Ile) http://identifiers.org/clinvar/182256 ^@ NM_000059.3(BRCA2):c.8825C>A (p.Ala2942Asp) http://identifiers.org/clinvar/182324 ^@ NM_000059.3(BRCA2):c.8953+1delG http://identifiers.org/clinvar/182257 ^@ NM_000059.3(BRCA2):c.8978C>G (p.Ser2993Ter) http://identifiers.org/clinvar/182258 ^@ NM_000059.3(BRCA2):c.9057A>G (p.Lys3019=) http://identifiers.org/clinvar/182259 ^@ NM_000059.3(BRCA2):c.9161C>T (p.Pro3054Leu) http://identifiers.org/clinvar/182301 ^@ NM_000059.3(BRCA2):c.9256+13A>G http://identifiers.org/clinvar/182260 ^@ NM_000059.3(BRCA2):c.9262G>A (p.Ala3088Thr) http://identifiers.org/clinvar/182261 ^@ NM_000059.3(BRCA2):c.9290G>A (p.Cys3097Tyr) http://identifiers.org/clinvar/182262 ^@ NM_000059.3(BRCA2):c.9296A>G (p.Asn3099Ser) http://identifiers.org/clinvar/182264 ^@ NM_000059.3(BRCA2):c.9625C>T (p.Pro3209Ser) http://identifiers.org/clinvar/182275 ^@ NM_000059.3(BRCA2):c.9632C>A (p.Thr3211Lys) http://identifiers.org/clinvar/182265 ^@ NM_000059.3(BRCA2):c.9648+1G>C http://identifiers.org/clinvar/182266 ^@ NM_000059.3(BRCA2):c.9700A>G (p.Met3234Val) http://identifiers.org/clinvar/182267 ^@ NM_000059.3(BRCA2):c.9710G>A (p.Arg3237Lys) http://identifiers.org/clinvar/182325 ^@ NM_000059.3(BRCA2):c.9728delC (p.Pro3243Leufs) http://identifiers.org/clinvar/182268 ^@ NM_000059.3(BRCA2):c.9753G>T (p.Lys3251Asn) http://identifiers.org/clinvar/182303 ^@ NM_000059.3(BRCA2):c.9837A>G (p.Leu3279=) http://identifiers.org/clinvar/182304 ^@ NM_000059.3(BRCA2):c.9876G>A (p.Pro3292=) http://identifiers.org/clinvar/182326 ^@ NM_000059.3(BRCA2):c.9891_9894dupATTT (p.Gln3299Ilefs) http://identifiers.org/clinvar/182269 ^@ NM_000059.3(BRCA2):c.9914G>A (p.Gly3305Asp) http://identifiers.org/clinvar/182329 ^@ NM_000059.3(BRCA2):c.9997_9998delCT (p.Leu3333Phefs) http://identifiers.org/clinvar/182305 ^@ NM_000059.3(BRCA2):c.10095_10096insGAATTATATCT (p.Ser3366Glufs) http://identifiers.org/clinvar/182276 ^@ NM_000059.3(BRCA2):c.10238C>G (p.Thr3413Arg) http://identifiers.org/clinvar/182306 ^@ NM_000059.3(BRCA2):c.10250A>G (p.Tyr3417Cys) http://identifiers.org/clinvar/182061 ^@ NM_000057.3(BLM):c.645C>T (p.Ser215=) http://identifiers.org/clinvar/182060 ^@ NM_000057.3(BLM):c.1385delC (p.Ser462Leufs) http://identifiers.org/clinvar/182777 ^@ NM_024675.3(PALB2):c.3474T>A (p.His1158Gln) http://identifiers.org/clinvar/182776 ^@ NM_024675.3(PALB2):c.3452T>A (p.Leu1151His) http://identifiers.org/clinvar/182775 ^@ NM_024675.3(PALB2):c.3404G>A (p.Gly1135Glu) http://identifiers.org/clinvar/182774 ^@ NM_024675.3(PALB2):c.3278T>C (p.Ile1093Thr) http://identifiers.org/clinvar/182756 ^@ NM_024675.3(PALB2):c.3235G>T (p.Ala1079Ser) http://identifiers.org/clinvar/182750 ^@ NM_024675.3(PALB2):c.3202-8G>T http://identifiers.org/clinvar/182749 ^@ NM_024675.3(PALB2):c.3202-8G>A http://identifiers.org/clinvar/182773 ^@ NM_024675.3(PALB2):c.3191A>G (p.Tyr1064Cys) http://identifiers.org/clinvar/182772 ^@ NM_024675.3(PALB2):c.2922G>T (p.Lys974Asn) http://identifiers.org/clinvar/182771 ^@ NM_024675.3(PALB2):c.2834+1G>A http://identifiers.org/clinvar/182770 ^@ NM_024675.3(PALB2):c.2798G>A (p.Cys933Tyr) http://identifiers.org/clinvar/182748 ^@ NM_024675.3(PALB2):c.2748+16G>A http://identifiers.org/clinvar/182742 ^@ NM_024675.3(PALB2):c.2727_2728delTT (p.Thr911Leufs) http://identifiers.org/clinvar/182769 ^@ NM_024675.3(PALB2):c.2699C>T (p.Ala900Val) http://identifiers.org/clinvar/182741 ^@ NM_024675.3(PALB2):c.2645_2646insGTTG (p.Cys882Trpfs) http://identifiers.org/clinvar/182755 ^@ NM_024675.3(PALB2):c.2615T>C (p.Val872Ala) http://identifiers.org/clinvar/182747 ^@ NM_024675.3(PALB2):c.2607C>A (p.Ser869=) http://identifiers.org/clinvar/182768 ^@ NM_024675.3(PALB2):c.2353C>T (p.Pro785Ser) http://identifiers.org/clinvar/182767 ^@ NM_024675.3(PALB2):c.2329G>A (p.Asp777Asn) http://identifiers.org/clinvar/182766 ^@ NM_024675.3(PALB2):c.2229T>A (p.Tyr743Ter) http://identifiers.org/clinvar/182740 ^@ NM_024675.3(PALB2):c.2154delG (p.Arg718Serfs) http://identifiers.org/clinvar/182765 ^@ NM_024675.3(PALB2):c.2128A>G (p.Thr710Ala) http://identifiers.org/clinvar/182764 ^@ NM_024675.3(PALB2):c.2106A>G (p.Ile702Met) http://identifiers.org/clinvar/182739 ^@ NM_024675.3(PALB2):c.2032delC (p.Leu678Tyrfs) http://identifiers.org/clinvar/182763 ^@ NM_024675.3(PALB2):c.2020G>A (p.Asp674Asn) http://identifiers.org/clinvar/182738 ^@ NM_024675.3(PALB2):c.1924delA (p.Met642Cysfs) http://identifiers.org/clinvar/182754 ^@ NM_024675.3(PALB2):c.1724G>A (p.Trp575Ter) http://identifiers.org/clinvar/182752 ^@ NM_024675.3(PALB2):c.1641C>T (p.Thr547=) http://identifiers.org/clinvar/182751 ^@ NM_024675.3(PALB2):c.1611G>C (p.Ser537=) http://identifiers.org/clinvar/182791 ^@ NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) http://identifiers.org/clinvar/182790 ^@ NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) http://identifiers.org/clinvar/182789 ^@ NM_024675.3(PALB2):c.1471G>C (p.Ala491Pro) http://identifiers.org/clinvar/182761 ^@ NM_024675.3(PALB2):c.1407C>G (p.Cys469Trp) http://identifiers.org/clinvar/182788 ^@ NM_024675.3(PALB2):c.1400G>A (p.Gly467Asp) http://identifiers.org/clinvar/182787 ^@ NM_024675.3(PALB2):c.1156A>G (p.Thr386Ala) http://identifiers.org/clinvar/182745 ^@ NM_024675.3(PALB2):c.1059delA (p.Lys353Asnfs) http://identifiers.org/clinvar/182760 ^@ NM_024675.3(PALB2):c.968C>A (p.Ala323Glu) http://identifiers.org/clinvar/182744 ^@ NM_024675.3(PALB2):c.948delC (p.Thr317Glnfs) http://identifiers.org/clinvar/182743 ^@ NM_024675.3(PALB2):c.786delT (p.Glu263Asnfs) http://identifiers.org/clinvar/182786 ^@ NM_024675.3(PALB2):c.688G>T (p.Glu230Ter) http://identifiers.org/clinvar/182785 ^@ NM_024675.3(PALB2):c.587G>A (p.Arg196Lys) http://identifiers.org/clinvar/182784 ^@ NM_024675.3(PALB2):c.535C>G (p.Gln179Glu) http://identifiers.org/clinvar/182783 ^@ NM_024675.3(PALB2):c.521A>G (p.Lys174Arg) http://identifiers.org/clinvar/182759 ^@ NM_024675.3(PALB2):c.397A>G (p.Ser133Gly) http://identifiers.org/clinvar/182758 ^@ NM_024675.3(PALB2):c.364G>T (p.Asp122Tyr) http://identifiers.org/clinvar/182782 ^@ NM_024675.3(PALB2):c.262C>G (p.Leu88Val) http://identifiers.org/clinvar/182757 ^@ NM_024675.3(PALB2):c.212-2A>G http://identifiers.org/clinvar/182781 ^@ NM_024675.3(PALB2):c.208T>C (p.Ser70Pro) http://identifiers.org/clinvar/182780 ^@ NM_024675.3(PALB2):c.187C>T (p.Leu63Phe) http://identifiers.org/clinvar/182779 ^@ NM_024675.3(PALB2):c.161A>G (p.Glu54Gly) http://identifiers.org/clinvar/182778 ^@ NM_024675.3(PALB2):c.109-2A>G http://identifiers.org/clinvar/182762 ^@ NM_024675.3(PALB2):c.43G>T (p.Glu15Ter) http://identifiers.org/clinvar/182792 ^@ NM_024675.3(PALB2):c.37G>A (p.Glu13Lys) http://identifiers.org/clinvar/182753 ^@ NM_024675.3(PALB2):c.-5G>T http://identifiers.org/clinvar/182387 ^@ NM_004360.4(CDH1):c.-41C>A http://identifiers.org/clinvar/182374 ^@ NM_004360.4(CDH1):c.-45_-41dupCGACC http://identifiers.org/clinvar/182365 ^@ NM_004360.4(CDH1):c.-26C>T http://identifiers.org/clinvar/182366 ^@ NM_004360.4(CDH1):c.-24C>G http://identifiers.org/clinvar/182388 ^@ NM_004360.4(CDH1):c.-22C>A http://identifiers.org/clinvar/182377 ^@ NM_004360.4(CDH1):c.33G>C (p.Leu11=) http://identifiers.org/clinvar/182378 ^@ NM_004360.4(CDH1):c.48+15_48+16delCT http://identifiers.org/clinvar/182389 ^@ NM_004360.4(CDH1):c.200C>G (p.Ala67Gly) http://identifiers.org/clinvar/182390 ^@ NM_004360.4(CDH1):c.268C>T (p.Arg90Trp) http://identifiers.org/clinvar/182391 ^@ NM_004360.4(CDH1):c.373C>T (p.Pro125Ser) http://identifiers.org/clinvar/182392 ^@ NM_004360.4(CDH1):c.671G>T (p.Arg224Leu) http://identifiers.org/clinvar/182393 ^@ NM_004360.4(CDH1):c.707C>A (p.Ser236Ter) http://identifiers.org/clinvar/182394 ^@ NM_004360.4(CDH1):c.712A>C (p.Asn238His) http://identifiers.org/clinvar/182379 ^@ NM_004360.4(CDH1):c.832+17G>C http://identifiers.org/clinvar/182375 ^@ NM_004360.4(CDH1):c.845T>C (p.Met282Thr) http://identifiers.org/clinvar/182380 ^@ NM_004360.4(CDH1):c.1020G>A (p.Thr340=) http://identifiers.org/clinvar/182395 ^@ NM_004360.4(CDH1):c.1143G>C (p.Lys381Asn) http://identifiers.org/clinvar/182396 ^@ NM_004360.4(CDH1):c.1171G>T (p.Val391Phe) http://identifiers.org/clinvar/182397 ^@ NM_004360.4(CDH1):c.1289T>G (p.Val430Gly) http://identifiers.org/clinvar/182398 ^@ NM_004360.4(CDH1):c.1477G>C (p.Val493Leu) http://identifiers.org/clinvar/182399 ^@ NM_004360.4(CDH1):c.1610C>T (p.Pro537Leu) http://identifiers.org/clinvar/182400 ^@ NM_004360.4(CDH1):c.1622C>T (p.Ala541Val) http://identifiers.org/clinvar/182401 ^@ NM_004360.4(CDH1):c.1864A>C (p.Asn622His) http://identifiers.org/clinvar/182376 ^@ NM_004360.4(CDH1):c.1979dupT (p.Asp662Terfs) http://identifiers.org/clinvar/182402 ^@ NM_004360.4(CDH1):c.2026G>A (p.Asp676Asn) http://identifiers.org/clinvar/182381 ^@ NM_004360.4(CDH1):c.2091G>A (p.Lys697=) http://identifiers.org/clinvar/182382 ^@ NM_004360.4(CDH1):c.2103C>T (p.Val701=) http://identifiers.org/clinvar/182384 ^@ NM_004360.4(CDH1):c.2165-17C>T http://identifiers.org/clinvar/182385 ^@ NM_004360.4(CDH1):c.2165-15C>A http://identifiers.org/clinvar/182403 ^@ NM_004360.4(CDH1):c.2219C>A (p.Pro740His) http://identifiers.org/clinvar/182386 ^@ NM_004360.4(CDH1):c.2520C>T (p.Ser840=) http://identifiers.org/clinvar/182854 ^@ NM_002878.3(RAD51D):c.904-11T>A http://identifiers.org/clinvar/182865 ^@ NM_002878.3(RAD51D):c.872G>A (p.Arg291His) http://identifiers.org/clinvar/182853 ^@ NM_002878.3(RAD51D):c.864C>T (p.Gly288=) http://identifiers.org/clinvar/182864 ^@ NM_002878.3(RAD51D):c.821C>T (p.Thr274Ile) http://identifiers.org/clinvar/182863 ^@ NM_002878.3(RAD51D):c.785C>T (p.Pro262Leu) http://identifiers.org/clinvar/182862 ^@ NM_002878.3(RAD51D):c.745A>G (p.Asn249Asp) http://identifiers.org/clinvar/182852 ^@ NM_002878.3(RAD51D):c.666A>G (p.Glu222=) http://identifiers.org/clinvar/182861 ^@ NM_002878.3(RAD51D):c.634G>A (p.Val212Ile) http://identifiers.org/clinvar/182850 ^@ NM_002878.3(RAD51D):c.609_611delGGT (p.Val205del) http://identifiers.org/clinvar/182860 ^@ NM_002878.3(RAD51D):c.607G>A (p.Val203Met) http://identifiers.org/clinvar/182859 ^@ NM_002878.3(RAD51D):c.481-5T>G http://identifiers.org/clinvar/182851 ^@ NM_002878.3(RAD51D):c.419G>A (p.Gly140Glu) http://identifiers.org/clinvar/182858 ^@ NM_002878.3(RAD51D):c.412A>G (p.Asn138Asp) http://identifiers.org/clinvar/182857 ^@ NM_002878.3(RAD51D):c.377A>T (p.His126Leu) http://identifiers.org/clinvar/182840 ^@ NM_002878.3(RAD51D):c.363delA (p.Ala122Glnfs) http://identifiers.org/clinvar/182856 ^@ NM_002878.3(RAD51D):c.355T>C (p.Cys119Arg) http://identifiers.org/clinvar/182855 ^@ NM_002878.3(RAD51D):c.292T>A (p.Tyr98Asn) http://identifiers.org/clinvar/182848 ^@ NM_002878.3(RAD51D):c.270_271insTA (p.Lys91Terfs) http://identifiers.org/clinvar/182866 ^@ NM_002878.3(RAD51D):c.4G>A (p.Gly2Ser) http://identifiers.org/clinvar/182099 ^@ NM_007294.3(BRCA1):c.*20C>T http://identifiers.org/clinvar/182174 ^@ NM_007294.3(BRCA1):c.5555C>T (p.Thr1852Ile) http://identifiers.org/clinvar/182082 ^@ NM_007294.3(BRCA1):c.5528C>A (p.Ala1843Glu) http://identifiers.org/clinvar/182173 ^@ NM_007294.3(BRCA1):c.5512G>A (p.Val1838Met) http://identifiers.org/clinvar/182172 ^@ NM_007294.3(BRCA1):c.5504G>C (p.Arg1835Pro) http://identifiers.org/clinvar/182171 ^@ NM_007294.3(BRCA1):c.5501C>T (p.Thr1834Ile) http://identifiers.org/clinvar/182075 ^@ NM_007294.3(BRCA1):c.5474_5481delGGCAGATG (p.Gly1825Valfs) http://identifiers.org/clinvar/182170 ^@ NM_007294.3(BRCA1):c.5477A>T (p.Gln1826Leu) http://identifiers.org/clinvar/182098 ^@ NM_007294.3(BRCA1):c.5412C>T (p.Val1804=) http://identifiers.org/clinvar/182081 ^@ NM_007294.3(BRCA1):c.5378A>C (p.Lys1793Thr) http://identifiers.org/clinvar/182097 ^@ NM_007294.3(BRCA1):c.5304C>T (p.Cys1768=) http://identifiers.org/clinvar/182167 ^@ NM_007294.3(BRCA1):c.5303G>A (p.Cys1768Tyr) http://identifiers.org/clinvar/182166 ^@ NM_007294.3(BRCA1):c.5186T>A (p.Leu1729Gln) http://identifiers.org/clinvar/182165 ^@ NM_007294.3(BRCA1):c.4987-1G>A http://identifiers.org/clinvar/182164 ^@ NM_007294.3(BRCA1):c.4874A>G (p.Tyr1625Cys) http://identifiers.org/clinvar/182163 ^@ NM_007294.3(BRCA1):c.4696T>G (p.Ser1566Ala) http://identifiers.org/clinvar/182162 ^@ NM_007294.3(BRCA1):c.4639T>A (p.Leu1547Met) http://identifiers.org/clinvar/182117 ^@ NM_007294.3(BRCA1):c.4614_4615delGCinsTT (p.Gln1538His) http://identifiers.org/clinvar/182096 ^@ NM_007294.3(BRCA1):c.4419T>A (p.Ser1473=) http://identifiers.org/clinvar/182161 ^@ NM_007294.3(BRCA1):c.4339C>A (p.Gln1447Lys) http://identifiers.org/clinvar/182080 ^@ NM_007294.3(BRCA1):c.4305C>G (p.Asp1435Glu) http://identifiers.org/clinvar/182116 ^@ NM_007294.3(BRCA1):c.4187_4189delAGA (p.Gln1396del) http://identifiers.org/clinvar/182160 ^@ NM_007294.3(BRCA1):c.4186C>A (p.Gln1396Lys) http://identifiers.org/clinvar/182159 ^@ NM_007294.3(BRCA1):c.4129A>G (p.Ser1377Gly) http://identifiers.org/clinvar/182158 ^@ NM_007294.3(BRCA1):c.4097-2A>C http://identifiers.org/clinvar/182157 ^@ NM_007294.3(BRCA1):c.4015G>A (p.Glu1339Lys) http://identifiers.org/clinvar/182156 ^@ NM_007294.3(BRCA1):c.3995G>T (p.Gly1332Val) http://identifiers.org/clinvar/182095 ^@ NM_007294.3(BRCA1):c.3900C>T (p.Cys1300=) http://identifiers.org/clinvar/182155 ^@ NM_007294.3(BRCA1):c.3830C>T (p.Ala1277Val) http://identifiers.org/clinvar/182074 ^@ NM_007294.3(BRCA1):c.3767_3768delCA (p.Thr1256Argfs) http://identifiers.org/clinvar/182094 ^@ NM_007294.3(BRCA1):c.3717T>A (p.Ser1239=) http://identifiers.org/clinvar/182154 ^@ NM_007294.3(BRCA1):c.3681A>T (p.Gln1227His) http://identifiers.org/clinvar/182153 ^@ NM_007294.3(BRCA1):c.3270A>T (p.Gln1090His) http://identifiers.org/clinvar/182111 ^@ NM_007294.3(BRCA1):c.3129_3138delTATTAATGAA (p.Asn1043Lysfs) http://identifiers.org/clinvar/182152 ^@ NM_007294.3(BRCA1):c.3097G>A (p.Glu1033Lys) http://identifiers.org/clinvar/182109 ^@ NM_007294.3(BRCA1):c.2945delC (p.Pro982Hisfs) http://identifiers.org/clinvar/182073 ^@ NM_007294.3(BRCA1):c.2938delA (p.Ile980Tyrfs) http://identifiers.org/clinvar/182078 ^@ NM_007294.3(BRCA1):c.2935C>A (p.Arg979Ser) http://identifiers.org/clinvar/182151 ^@ NM_007294.3(BRCA1):c.2922A>C (p.Leu974Phe) http://identifiers.org/clinvar/182077 ^@ NM_007294.3(BRCA1):c.2888C>T (p.Thr963Ile) http://identifiers.org/clinvar/182093 ^@ NM_007294.3(BRCA1):c.2860C>T (p.Leu954=) http://identifiers.org/clinvar/182150 ^@ NM_007294.3(BRCA1):c.2846G>A (p.Gly949Asp) http://identifiers.org/clinvar/182149 ^@ NM_007294.3(BRCA1):c.2808T>G (p.Asp936Glu) http://identifiers.org/clinvar/182107 ^@ NM_007294.3(BRCA1):c.2638_2639delGAinsAC (p.Glu880Thr) http://identifiers.org/clinvar/182092 ^@ NM_007294.3(BRCA1):c.2634A>G (p.Ala878=) http://identifiers.org/clinvar/182148 ^@ NM_007294.3(BRCA1):c.2444T>C (p.Ile815Thr) http://identifiers.org/clinvar/182147 ^@ NM_007294.3(BRCA1):c.2333G>A (p.Gly778Asp) http://identifiers.org/clinvar/182146 ^@ NM_007294.3(BRCA1):c.2321G>A (p.Gly774Asp) http://identifiers.org/clinvar/182145 ^@ NM_007294.3(BRCA1):c.2312T>C (p.Leu771Ser) http://identifiers.org/clinvar/182144 ^@ NM_007294.3(BRCA1):c.2259T>G (p.Ser753Arg) http://identifiers.org/clinvar/182143 ^@ NM_007294.3(BRCA1):c.2246A>T (p.Asp749Val) http://identifiers.org/clinvar/182142 ^@ NM_007294.3(BRCA1):c.2148T>A (p.Ser716Arg) http://identifiers.org/clinvar/182141 ^@ NM_007294.3(BRCA1):c.2143A>T (p.Thr715Ser) http://identifiers.org/clinvar/182140 ^@ NM_007294.3(BRCA1):c.2090T>C (p.Phe697Ser) http://identifiers.org/clinvar/182139 ^@ NM_007294.3(BRCA1):c.2039A>G (p.Lys680Arg) http://identifiers.org/clinvar/182138 ^@ NM_007294.3(BRCA1):c.1922T>C (p.Ile641Thr) http://identifiers.org/clinvar/182137 ^@ NM_007294.3(BRCA1):c.1901C>T (p.Pro634Leu) http://identifiers.org/clinvar/182091 ^@ NM_007294.3(BRCA1):c.1866G>A (p.Ala622=) http://identifiers.org/clinvar/182105 ^@ NM_007294.3(BRCA1):c.1860delT (p.His621Metfs) http://identifiers.org/clinvar/182136 ^@ NM_007294.3(BRCA1):c.1786C>T (p.Leu596Phe) http://identifiers.org/clinvar/182135 ^@ NM_007294.3(BRCA1):c.1714G>T (p.Glu572Ter) http://identifiers.org/clinvar/182134 ^@ NM_007294.3(BRCA1):c.1651A>G (p.Ser551Gly) http://identifiers.org/clinvar/182133 ^@ NM_007294.3(BRCA1):c.1618G>A (p.Glu540Lys) http://identifiers.org/clinvar/182132 ^@ NM_007294.3(BRCA1):c.1616C>A (p.Thr539Lys) http://identifiers.org/clinvar/182090 ^@ NM_007294.3(BRCA1):c.1456T>A (p.Phe486Ile) http://identifiers.org/clinvar/182103 ^@ NM_007294.3(BRCA1):c.1340_1341delTT (p.Val447Alafs) http://identifiers.org/clinvar/182131 ^@ NM_007294.3(BRCA1):c.1313A>C (p.Glu438Ala) http://identifiers.org/clinvar/182076 ^@ NM_007294.3(BRCA1):c.1259A>G (p.Asp420Gly) http://identifiers.org/clinvar/182130 ^@ NM_007294.3(BRCA1):c.1232A>T (p.Asp411Val) http://identifiers.org/clinvar/182129 ^@ NM_007294.3(BRCA1):c.923G>C (p.Ser308Thr) http://identifiers.org/clinvar/182128 ^@ NM_007294.3(BRCA1):c.869T>G (p.Leu290Ter) http://identifiers.org/clinvar/182127 ^@ NM_007294.3(BRCA1):c.788G>A (p.Gly263Asp) http://identifiers.org/clinvar/182126 ^@ NM_007294.3(BRCA1):c.729T>G (p.Asn243Lys) http://identifiers.org/clinvar/182125 ^@ NM_007294.3(BRCA1):c.625C>T (p.Pro209Ser) http://identifiers.org/clinvar/182089 ^@ NM_007294.3(BRCA1):c.441+17T>C http://identifiers.org/clinvar/182087 ^@ NM_007294.3(BRCA1):c.441+16delT http://identifiers.org/clinvar/182085 ^@ NM_007294.3(BRCA1):c.420T>C (p.Ser140=) http://identifiers.org/clinvar/182084 ^@ NM_007294.3(BRCA1):c.288C>T (p.Asp96=) http://identifiers.org/clinvar/182122 ^@ NM_007294.3(BRCA1):c.172C>A (p.Pro58Thr) http://identifiers.org/clinvar/182121 ^@ NM_007294.3(BRCA1):c.60A>C (p.Lys20Asn) http://identifiers.org/clinvar/182100 ^@ NM_007294.3(BRCA1):c.45delT (p.Asn16Metfs) http://identifiers.org/clinvar/182506 ^@ NM_006361.5(HOXB13):c.853delT (p.Ter285Lysfs) http://identifiers.org/clinvar/182504 ^@ NM_006361.5(HOXB13):c.735G>A (p.Lys245=) http://identifiers.org/clinvar/182503 ^@ NM_006361.5(HOXB13):c.602-9G>A http://identifiers.org/clinvar/182505 ^@ NM_006361.5(HOXB13):c.-47C>T http://identifiers.org/clinvar/182841 ^@ NM_058216.2(RAD51C):c.29T>G (p.Met10Arg) http://identifiers.org/clinvar/182842 ^@ NM_058216.2(RAD51C):c.32A>G (p.Gln11Arg) http://identifiers.org/clinvar/182847 ^@ NM_058216.2(RAD51C):c.93delG (p.Phe32Serfs) http://identifiers.org/clinvar/182830 ^@ NM_058216.2(RAD51C):c.154A>C (p.Ile52Leu) http://identifiers.org/clinvar/182831 ^@ NM_058216.2(RAD51C):c.164C>T (p.Ala55Val) http://identifiers.org/clinvar/182825 ^@ NM_058216.2(RAD51C):c.189T>C (p.Ile63=) http://identifiers.org/clinvar/182832 ^@ NM_058216.2(RAD51C):c.200A>G (p.Glu67Gly) http://identifiers.org/clinvar/182844 ^@ NM_058216.2(RAD51C):c.224dupA (p.Tyr75Terfs) http://identifiers.org/clinvar/182833 ^@ NM_058216.2(RAD51C):c.234A>G (p.Thr78=) http://identifiers.org/clinvar/182845 ^@ NM_058216.2(RAD51C):c.394dupA (p.Thr132Asnfs) http://identifiers.org/clinvar/182834 ^@ NM_058216.2(RAD51C):c.395C>G (p.Thr132Arg) http://identifiers.org/clinvar/182835 ^@ NM_058216.2(RAD51C):c.404+2T>C http://identifiers.org/clinvar/182843 ^@ NM_058216.2(RAD51C):c.418G>A (p.Val140Ile) http://identifiers.org/clinvar/182839 ^@ NM_058216.2(RAD51C):c.449G>A (p.Gly150Glu) http://identifiers.org/clinvar/182826 ^@ NM_058216.2(RAD51C):c.671A>G (p.Tyr224Cys) http://identifiers.org/clinvar/182827 ^@ NM_058216.2(RAD51C):c.730A>G (p.Ile244Val) http://identifiers.org/clinvar/182828 ^@ NM_058216.2(RAD51C):c.746G>A (p.Arg249His) http://identifiers.org/clinvar/182829 ^@ NM_058216.2(RAD51C):c.779G>C (p.Arg260Pro) http://identifiers.org/clinvar/182846 ^@ NM_058216.2(RAD51C):c.905-3_906delCAGGG http://identifiers.org/clinvar/182836 ^@ NM_058216.2(RAD51C):c.934C>T (p.Arg312Trp) http://identifiers.org/clinvar/182837 ^@ NM_058216.2(RAD51C):c.956G>C (p.Arg319Pro) http://identifiers.org/clinvar/182838 ^@ NM_058216.2(RAD51C):c.965+1G>A http://identifiers.org/clinvar/182368 ^@ NM_032043.2(BRIP1):c.3730_3731delAT (p.Met1244Valfs) http://identifiers.org/clinvar/182338 ^@ NM_032043.2(BRIP1):c.3599A>G (p.His1200Arg) http://identifiers.org/clinvar/182337 ^@ NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) http://identifiers.org/clinvar/182367 ^@ NM_032043.2(BRIP1):c.3196delT (p.Ser1066Hisfs) http://identifiers.org/clinvar/182356 ^@ NM_032043.2(BRIP1):c.3069C>T (p.Leu1023=) http://identifiers.org/clinvar/182336 ^@ NM_032043.2(BRIP1):c.2935A>G (p.Lys979Glu) http://identifiers.org/clinvar/182335 ^@ NM_032043.2(BRIP1):c.2851A>G (p.Ile951Val) http://identifiers.org/clinvar/182334 ^@ NM_032043.2(BRIP1):c.2772A>C (p.Glu924Asp) http://identifiers.org/clinvar/182333 ^@ NM_032043.2(BRIP1):c.2753C>A (p.Thr918Asn) http://identifiers.org/clinvar/182330 ^@ NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) http://identifiers.org/clinvar/182354 ^@ NM_032043.2(BRIP1):c.2257+17T>C http://identifiers.org/clinvar/182372 ^@ NM_032043.2(BRIP1):c.2255_2256delAA (p.Lys752Argfs) http://identifiers.org/clinvar/182353 ^@ NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) http://identifiers.org/clinvar/182364 ^@ NM_032043.2(BRIP1):c.2097+8A>C http://identifiers.org/clinvar/182363 ^@ NM_032043.2(BRIP1):c.1935+11_1935+13delGTT http://identifiers.org/clinvar/182352 ^@ NM_032043.2(BRIP1):c.1684A>G (p.Ile562Val) http://identifiers.org/clinvar/182351 ^@ NM_032043.2(BRIP1):c.1560T>A (p.Ser520Arg) http://identifiers.org/clinvar/182373 ^@ NM_032043.2(BRIP1):c.1473+4_1473+8delAGATA http://identifiers.org/clinvar/182361 ^@ NM_032043.2(BRIP1):c.1356C>T (p.Asn452=) http://identifiers.org/clinvar/182348 ^@ NM_032043.2(BRIP1):c.1304A>G (p.His435Arg) http://identifiers.org/clinvar/182360 ^@ NM_032043.2(BRIP1):c.1257G>A (p.Arg419=) http://identifiers.org/clinvar/182369 ^@ NM_032043.2(BRIP1):c.1204_1205insTGTG (p.Ala402Valfs) http://identifiers.org/clinvar/182346 ^@ NM_032043.2(BRIP1):c.1077A>G (p.Ile359Met) http://identifiers.org/clinvar/182345 ^@ NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter) http://identifiers.org/clinvar/182344 ^@ NM_032043.2(BRIP1):c.1054T>C (p.Tyr352His) http://identifiers.org/clinvar/182343 ^@ NM_032043.2(BRIP1):c.1000G>T (p.Ala334Ser) http://identifiers.org/clinvar/182359 ^@ NM_032043.2(BRIP1):c.852C>T (p.Val284=) http://identifiers.org/clinvar/182342 ^@ NM_032043.2(BRIP1):c.800C>T (p.Ala267Val) http://identifiers.org/clinvar/182341 ^@ NM_032043.2(BRIP1):c.655T>C (p.Cys219Arg) http://identifiers.org/clinvar/182332 ^@ NM_032043.2(BRIP1):c.556A>G (p.Lys186Glu) http://identifiers.org/clinvar/182331 ^@ NM_032043.2(BRIP1):c.394A>T (p.Thr132Ser) http://identifiers.org/clinvar/182355 ^@ NM_032043.2(BRIP1):c.380-17dupT http://identifiers.org/clinvar/182371 ^@ NM_032043.2(BRIP1):c.370A>G (p.Thr124Ala) http://identifiers.org/clinvar/182350 ^@ NM_032043.2(BRIP1):c.359G>A (p.Gly120Asp) http://identifiers.org/clinvar/182349 ^@ NM_032043.2(BRIP1):c.332C>A (p.Pro111Gln) http://identifiers.org/clinvar/182370 ^@ NM_032043.2(BRIP1):c.258_269delTTGTTGTGCATG (p.Cys87_Cys90del) http://identifiers.org/clinvar/182358 ^@ NM_032043.2(BRIP1):c.195A>G (p.Gln65=) http://identifiers.org/clinvar/182340 ^@ NM_032043.2(BRIP1):c.139C>A (p.Pro47Thr) http://identifiers.org/clinvar/182357 ^@ NM_032043.2(BRIP1):c.93+15G>A http://identifiers.org/clinvar/182339 ^@ NM_032043.2(BRIP1):c.93+5G>C http://identifiers.org/clinvar/182362 ^@ NM_032043.2(BRIP1):c.-38C>G http://identifiers.org/clinvar/182020 ^@ NM_004655.3(AXIN2):c.2433G>A (p.Glu811=) http://identifiers.org/clinvar/182012 ^@ NM_004655.3(AXIN2):c.2239C>T (p.His747Tyr) http://identifiers.org/clinvar/182019 ^@ NM_004655.3(AXIN2):c.2237+3G>A http://identifiers.org/clinvar/182011 ^@ NM_004655.3(AXIN2):c.2024G>A (p.Arg675His) http://identifiers.org/clinvar/182018 ^@ NM_004655.3(AXIN2):c.2013_2024delCACCACCCCCCG (p.Thr672_Arg675del) http://identifiers.org/clinvar/182010 ^@ NM_004655.3(AXIN2):c.1976G>A (p.Arg659Gln) http://identifiers.org/clinvar/182009 ^@ NM_004655.3(AXIN2):c.1948C>T (p.Arg650Cys) http://identifiers.org/clinvar/182022 ^@ NM_004655.3(AXIN2):c.1934C>T (p.Pro645Leu) http://identifiers.org/clinvar/182008 ^@ NM_004655.3(AXIN2):c.1882C>T (p.Arg628Trp) http://identifiers.org/clinvar/182007 ^@ NM_004655.3(AXIN2):c.1742G>A (p.Arg581His) http://identifiers.org/clinvar/182006 ^@ NM_004655.3(AXIN2):c.1651T>C (p.Cys551Arg) http://identifiers.org/clinvar/182004 ^@ NM_004655.3(AXIN2):c.1481C>T (p.Pro494Leu) http://identifiers.org/clinvar/182003 ^@ NM_004655.3(AXIN2):c.1387C>G (p.Arg463Gly) http://identifiers.org/clinvar/182002 ^@ NM_004655.3(AXIN2):c.1376G>A (p.Arg459His) http://identifiers.org/clinvar/182016 ^@ NM_004655.3(AXIN2):c.1200+18_1200+19delinsGC http://identifiers.org/clinvar/182001 ^@ NM_004655.3(AXIN2):c.1070G>A (p.Arg357His) http://identifiers.org/clinvar/182021 ^@ NM_004655.3(AXIN2):c.828G>A (p.Arg276=) http://identifiers.org/clinvar/182017 ^@ NM_004655.3(AXIN2):c.144C>T (p.Pro48=) http://identifiers.org/clinvar/182005 ^@ NM_004655.3(AXIN2):c.14T>G (p.Met5Arg) http://identifiers.org/clinvar/182015 ^@ NM_004655.3(AXIN2):c.-116-13delC http://identifiers.org/clinvar/182939 ^@ NM_000546.5(TP53):c.1150A>G (p.Met384Val) http://identifiers.org/clinvar/182956 ^@ NM_000546.5(TP53):c.1125delG (p.Gln375Hisfs) http://identifiers.org/clinvar/182970 ^@ NM_000546.5(TP53):c.1024C>T (p.Arg342Ter) http://identifiers.org/clinvar/182952 ^@ NM_000546.5(TP53):c.1014C>T (p.Phe338=) http://identifiers.org/clinvar/182969 ^@ NM_000546.5(TP53):c.1000G>C (p.Gly334Arg) http://identifiers.org/clinvar/182951 ^@ NM_000546.5(TP53):c.994-17C>T http://identifiers.org/clinvar/182950 ^@ NM_000546.5(TP53):c.993+326_993+341del16 http://identifiers.org/clinvar/182949 ^@ NM_000546.5(TP53):c.993+13G>C http://identifiers.org/clinvar/182938 ^@ NM_000546.5(TP53):c.845G>T (p.Arg282Leu) http://identifiers.org/clinvar/182968 ^@ NM_000546.5(TP53):c.842A>T (p.Asp281Val) http://identifiers.org/clinvar/182948 ^@ NM_000546.5(TP53):c.782+12C>T http://identifiers.org/clinvar/182967 ^@ NM_000546.5(TP53):c.752T>G (p.Ile251Ser) http://identifiers.org/clinvar/182937 ^@ NM_000546.5(TP53):c.751A>C (p.Ile251Leu) http://identifiers.org/clinvar/182936 ^@ NM_000546.5(TP53):c.728T>C (p.Met243Thr) http://identifiers.org/clinvar/182935 ^@ NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) http://identifiers.org/clinvar/182934 ^@ NM_000546.5(TP53):c.709A>G (p.Met237Val) http://identifiers.org/clinvar/182966 ^@ NM_000546.5(TP53):c.707A>C (p.Tyr236Ser) http://identifiers.org/clinvar/182955 ^@ NM_000546.5(TP53):c.685_692delTGTACCAC (p.Cys229Hisfs) http://identifiers.org/clinvar/182947 ^@ NM_000546.5(TP53):c.672+18G>C http://identifiers.org/clinvar/182965 ^@ NM_000546.5(TP53):c.646G>A (p.Val216Met) http://identifiers.org/clinvar/182933 ^@ NM_000546.5(TP53):c.607G>A (p.Val203Met) http://identifiers.org/clinvar/182932 ^@ NM_000546.5(TP53):c.605G>T (p.Arg202Leu) http://identifiers.org/clinvar/182931 ^@ NM_000546.5(TP53):c.575A>G (p.Gln192Arg) http://identifiers.org/clinvar/182963 ^@ NM_000546.5(TP53):c.524G>T (p.Arg175Leu) http://identifiers.org/clinvar/182930 ^@ NM_000546.5(TP53):c.493C>T (p.Gln165Ter) http://identifiers.org/clinvar/182961 ^@ NM_000546.5(TP53):c.475_476delGCinsTT (p.Ala159Phe) http://identifiers.org/clinvar/182929 ^@ NM_000546.5(TP53):c.475G>C (p.Ala159Pro) http://identifiers.org/clinvar/182958 ^@ NM_000546.5(TP53):c.455dupC (p.Pro153Alafs) http://identifiers.org/clinvar/182928 ^@ NM_000546.5(TP53):c.380C>T (p.Ser127Phe) http://identifiers.org/clinvar/182960 ^@ NM_000546.5(TP53):c.375+5_375+11delGTTGCCC http://identifiers.org/clinvar/182927 ^@ NM_000546.5(TP53):c.375+6T>C http://identifiers.org/clinvar/182926 ^@ NM_000546.5(TP53):c.370T>A (p.Cys124Ser) http://identifiers.org/clinvar/182925 ^@ NM_000546.5(TP53):c.344A>G (p.His115Arg) http://identifiers.org/clinvar/182954 ^@ NM_000546.5(TP53):c.294_297delTTCC (p.Ser99Argfs) http://identifiers.org/clinvar/182924 ^@ NM_000546.5(TP53):c.290T>A (p.Val97Asp) http://identifiers.org/clinvar/182962 ^@ NM_000546.5(TP53):c.289G>C (p.Val97Leu) http://identifiers.org/clinvar/182923 ^@ NM_000546.5(TP53):c.266C>T (p.Pro89Leu) http://identifiers.org/clinvar/182946 ^@ NM_000546.5(TP53):c.245C>T (p.Pro82Leu) http://identifiers.org/clinvar/182957 ^@ NM_000546.5(TP53):c.216dupC (p.Val73Argfs) http://identifiers.org/clinvar/182953 ^@ NM_000546.5(TP53):c.214_215delCCinsTG (p.Pro72Cys) http://identifiers.org/clinvar/182922 ^@ NM_000546.5(TP53):c.188C>T (p.Ala63Val) http://identifiers.org/clinvar/182921 ^@ NM_000546.5(TP53):c.106C>T (p.Pro36Ser) http://identifiers.org/clinvar/182945 ^@ NM_000546.5(TP53):c.97-9C>T http://identifiers.org/clinvar/182944 ^@ NM_000546.5(TP53):c.96+16_96+31del16 http://identifiers.org/clinvar/182942 ^@ NM_000546.5(TP53):c.96+15_96+31del17 http://identifiers.org/clinvar/182941 ^@ NM_000546.5(TP53):c.96+15_96+30del16 http://identifiers.org/clinvar/182943 ^@ NM_000546.5(TP53):c.96+16delG http://identifiers.org/clinvar/182940 ^@ NM_000546.5(TP53):c.18A>C (p.Ser6=) http://identifiers.org/clinvar/182868 ^@ NM_005359.5(SMAD4):c.607C>G (p.Pro203Ala) http://identifiers.org/clinvar/182869 ^@ NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) http://identifiers.org/clinvar/182870 ^@ NM_005359.5(SMAD4):c.917A>G (p.Asn306Ser) http://identifiers.org/clinvar/182867 ^@ NM_005359.5(SMAD4):c.1231_1232delAG (p.Ser411Leufs) http://identifiers.org/clinvar/182871 ^@ NM_005359.5(SMAD4):c.1239C>A (p.Tyr413Ter) http://identifiers.org/clinvar/182873 ^@ NM_005359.5(SMAD4):c.1258_1259dupCG (p.Ala421Valfs) http://identifiers.org/clinvar/182874 ^@ NM_005359.5(SMAD4):c.1338_1339delGA (p.Gln446Hisfs) http://identifiers.org/clinvar/182872 ^@ NM_005359.5(SMAD4):c.1634T>A (p.Ile545Asn) http://identifiers.org/clinvar/182875 ^@ NM_000455.4(STK11):c.134_145delTCATCGGCAAGT (p.Leu45_Tyr49delinsHis) http://identifiers.org/clinvar/182914 ^@ NM_000455.4(STK11):c.151A>C (p.Met51Leu) http://identifiers.org/clinvar/182876 ^@ NM_000455.4(STK11):c.218_230delGCAGGAGGGCCGT (p.Cys73Serfs) http://identifiers.org/clinvar/182917 ^@ NM_000455.4(STK11):c.275A>G (p.Glu92Gly) http://identifiers.org/clinvar/182905 ^@ NM_000455.4(STK11):c.310A>G (p.Arg104Gly) http://identifiers.org/clinvar/182877 ^@ NM_000455.4(STK11):c.357C>T (p.Asn119=) http://identifiers.org/clinvar/182878 ^@ NM_000455.4(STK11):c.374+11C>T http://identifiers.org/clinvar/182906 ^@ NM_000455.4(STK11):c.397G>A (p.Val133Met) http://identifiers.org/clinvar/182913 ^@ NM_000455.4(STK11):c.402_403delTG (p.Cys134Trpfs) http://identifiers.org/clinvar/182879 ^@ NM_000455.4(STK11):c.464+20delG http://identifiers.org/clinvar/182907 ^@ NM_000455.4(STK11):c.526G>A (p.Asp176Asn) http://identifiers.org/clinvar/182880 ^@ NM_000455.4(STK11):c.579C>T (p.Ser193=) http://identifiers.org/clinvar/182881 ^@ NM_000455.4(STK11):c.597+14delA http://identifiers.org/clinvar/182908 ^@ NM_000455.4(STK11):c.604C>T (p.His202Tyr) http://identifiers.org/clinvar/182909 ^@ NM_000455.4(STK11):c.613G>A (p.Ala205Thr) http://identifiers.org/clinvar/182882 ^@ NM_000455.4(STK11):c.615G>A (p.Ala205=) http://identifiers.org/clinvar/182910 ^@ NM_000455.4(STK11):c.632G>A (p.Arg211Gln) http://identifiers.org/clinvar/182883 ^@ NM_000455.4(STK11):c.696C>T (p.Ser232=) http://identifiers.org/clinvar/182902 ^@ NM_000455.4(STK11):c.719C>G (p.Ser240Trp) http://identifiers.org/clinvar/182884 ^@ NM_000455.4(STK11):c.734+19dupC http://identifiers.org/clinvar/182885 ^@ NM_000455.4(STK11):c.795G>A (p.Glu265=) http://identifiers.org/clinvar/182886 ^@ NM_000455.4(STK11):c.876C>T (p.Tyr292=) http://identifiers.org/clinvar/182887 ^@ NM_000455.4(STK11):c.900C>T (p.Ile300=) http://identifiers.org/clinvar/182888 ^@ NM_000455.4(STK11):c.920+6C>T http://identifiers.org/clinvar/182915 ^@ NM_000455.4(STK11):c.937C>T (p.His313Tyr) http://identifiers.org/clinvar/182916 ^@ NM_000455.4(STK11):c.950A>C (p.Glu317Ala) http://identifiers.org/clinvar/182889 ^@ NM_000455.4(STK11):c.984C>G (p.Thr328=) http://identifiers.org/clinvar/182918 ^@ NM_000455.4(STK11):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/182919 ^@ NM_000455.4(STK11):c.1252T>A (p.Cys418Ser) http://identifiers.org/clinvar/182890 ^@ NM_000455.4(STK11):c.1257C>T (p.Ser419=) http://identifiers.org/clinvar/182920 ^@ NM_000455.4(STK11):c.1274G>A (p.Arg425His) http://identifiers.org/clinvar/182891 ^@ NM_000455.4(STK11):c.*16+12C>T http://identifiers.org/clinvar/182892 ^@ NM_000455.4(STK11):c.*17-8C>T http://identifiers.org/clinvar/182893 ^@ NM_000455.4(STK11):c.*22dupG http://identifiers.org/clinvar/182894 ^@ NM_000455.4(STK11):c.*29A>G http://identifiers.org/clinvar/182442 ^@ NM_007194.3(CHEK2):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/182441 ^@ NM_007194.3(CHEK2):c.1513T>A (p.Ser505Thr) http://identifiers.org/clinvar/182440 ^@ NM_007194.3(CHEK2):c.1501G>A (p.Glu501Lys) http://identifiers.org/clinvar/182460 ^@ NM_007194.3(CHEK2):c.1462-7C>G http://identifiers.org/clinvar/182439 ^@ NM_007194.3(CHEK2):c.1450C>A (p.Pro484Thr) http://identifiers.org/clinvar/182438 ^@ NM_007194.3(CHEK2):c.1405G>A (p.Val469Met) http://identifiers.org/clinvar/182450 ^@ NM_007194.3(CHEK2):c.1368dupA (p.Glu457Argfs) http://identifiers.org/clinvar/182453 ^@ NM_007194.3(CHEK2):c.1356G>A (p.Trp452Ter) http://identifiers.org/clinvar/182437 ^@ NM_007194.3(CHEK2):c.1267G>T (p.Gly423Trp) http://identifiers.org/clinvar/182436 ^@ NM_007194.3(CHEK2):c.1265G>A (p.Ser422Asn) http://identifiers.org/clinvar/182459 ^@ NM_007194.3(CHEK2):c.1260-10C>G http://identifiers.org/clinvar/182435 ^@ NM_007194.3(CHEK2):c.1178C>T (p.Pro393Leu) http://identifiers.org/clinvar/182434 ^@ NM_007194.3(CHEK2):c.1136C>G (p.Ser379Cys) http://identifiers.org/clinvar/182458 ^@ NM_007194.3(CHEK2):c.1115C>T (p.Ser372Phe) http://identifiers.org/clinvar/182433 ^@ NM_007194.3(CHEK2):c.1045A>G (p.Lys349Glu) http://identifiers.org/clinvar/182432 ^@ NM_007194.3(CHEK2):c.1039G>A (p.Asp347Asn) http://identifiers.org/clinvar/182431 ^@ NM_007194.3(CHEK2):c.1037G>A (p.Arg346His) http://identifiers.org/clinvar/182457 ^@ NM_007194.3(CHEK2):c.1024G>A (p.Gly342Ser) http://identifiers.org/clinvar/182430 ^@ NM_007194.3(CHEK2):c.793-1G>A http://identifiers.org/clinvar/182429 ^@ NM_007194.3(CHEK2):c.787G>C (p.Glu263Gln) http://identifiers.org/clinvar/182428 ^@ NM_007194.3(CHEK2):c.689C>T (p.Ala230Val) http://identifiers.org/clinvar/182456 ^@ NM_007194.3(CHEK2):c.598G>A (p.Val200Ile) http://identifiers.org/clinvar/182455 ^@ NM_007194.3(CHEK2):c.541C>G (p.Arg181Gly) http://identifiers.org/clinvar/182427 ^@ NM_007194.3(CHEK2):c.503C>T (p.Thr168Ile) http://identifiers.org/clinvar/182426 ^@ NM_007194.3(CHEK2):c.482A>G (p.Glu161Gly) http://identifiers.org/clinvar/182425 ^@ NM_007194.3(CHEK2):c.458A>G (p.Lys153Arg) http://identifiers.org/clinvar/182454 ^@ NM_007194.3(CHEK2):c.415T>G (p.Tyr139Asp) http://identifiers.org/clinvar/182452 ^@ NM_007194.3(CHEK2):c.409C>T (p.Arg137Ter) http://identifiers.org/clinvar/182449 ^@ NM_007194.3(CHEK2):c.405delA (p.Lys135Asnfs) http://identifiers.org/clinvar/182424 ^@ NM_007194.3(CHEK2):c.322T>C (p.Cys108Arg) http://identifiers.org/clinvar/182448 ^@ NM_007194.3(CHEK2):c.319+5G>T http://identifiers.org/clinvar/182447 ^@ NM_007194.3(CHEK2):c.277T>C (p.Trp93Arg) http://identifiers.org/clinvar/182446 ^@ NM_007194.3(CHEK2):c.196G>A (p.Val66Met) http://identifiers.org/clinvar/182445 ^@ NM_007194.3(CHEK2):c.170C>T (p.Ser57Phe) http://identifiers.org/clinvar/182444 ^@ NM_007194.3(CHEK2):c.146C>G (p.Ser49Cys) http://identifiers.org/clinvar/182443 ^@ NM_007194.3(CHEK2):c.-10C>T http://identifiers.org/clinvar/181780 ^@ NM_000038.5:c.423-17insT http://identifiers.org/clinvar/181836 ^@ NM_000038.5:c.5844_5845delTGAAAAGinsGGAAAA http://identifiers.org/clinvar/182014 ^@ NM_004655.3:c.1-12_8delAGCTCCCTCACCATGAGTAG http://identifiers.org/clinvar/182025 ^@ NM_000465.2:c.365-8insT http://identifiers.org/clinvar/182083 ^@ NM_007294.3:c.134+19insT http://identifiers.org/clinvar/182086 ^@ NM_007294.3:c.441+6insA http://identifiers.org/clinvar/182104 ^@ NM_007294.3:c.1363insT http://identifiers.org/clinvar/182108 ^@ NM_007294.3:c.2726insA http://identifiers.org/clinvar/182110 ^@ NM_007294.3:c.3108insT http://identifiers.org/clinvar/182112 ^@ NM_007294.3:c.3627insA http://identifiers.org/clinvar/182113 ^@ NM_007294.3:c.3648insA http://identifiers.org/clinvar/182114 ^@ NM_007294.3:c.3764insA http://identifiers.org/clinvar/182115 ^@ NM_007294.3:c.3908insT http://identifiers.org/clinvar/182118 ^@ NM_007294.3:c.4997insA http://identifiers.org/clinvar/182302 ^@ NM_000059.3:c.1-59_1-57delGAA http://identifiers.org/clinvar/182308 ^@ NM_000059.3(BRCA2):c.1216_1219delGCCCinsACCG (p.Ala406_Gln407delinsThrGlu) http://identifiers.org/clinvar/182328 ^@ NM_000059.3:c.3847_3848delTG http://identifiers.org/clinvar/182383 ^@ NM_004360.3:c.2164+17insA http://identifiers.org/clinvar/182410 ^@ NM_000077.4:c.206_229delAGCCCAACTGCGCCGACCCCGinsCAG http://identifiers.org/clinvar/182461 ^@ NM_002354.2:c.1-45_1-26del http://identifiers.org/clinvar/182507 ^@ NM_000249.3:c.2110insG http://identifiers.org/clinvar/182508 ^@ NM_000249.3:c.503insA http://identifiers.org/clinvar/182510 ^@ NM_000249.3:c.971insA http://identifiers.org/clinvar/182511 ^@ NM_000249.3:c.1489insC http://identifiers.org/clinvar/182539 ^@ NM_000249.3:c.1039-6insA http://identifiers.org/clinvar/182545 ^@ NM_005591.3:c.315-4insT http://identifiers.org/clinvar/182669 ^@ NM_000179.2:c.3557-4insT http://identifiers.org/clinvar/182684 ^@ NM_001128425.1(MUTYH):c.1476_1476+6delGGCACTA http://identifiers.org/clinvar/182705 ^@ NM_002485.4:c.703-20insA http://identifiers.org/clinvar/182746 ^@ NM_024675.3:c.833_834ATdelTAinsAT http://identifiers.org/clinvar/182821 ^@ NM_005732.3:c.2923-5insT http://identifiers.org/clinvar/182849 ^@ NM_002878.3(RAD51D):c.326dupC (p.Gly110Argfs) http://identifiers.org/clinvar/183011 ^@ NM_017777.3(MKS1):c.1382A>G (p.Tyr461Cys) http://identifiers.org/clinvar/183012 ^@ NM_017777.3(MKS1):c.1601G>A (p.Arg534Gln) http://identifiers.org/clinvar/183013 ^@ NM_144988.3(ALG14):c.194C>T (p.Pro65Leu) http://identifiers.org/clinvar/183014 ^@ NM_144988.3(ALG14):c.310C>T (p.Arg104Ter) http://identifiers.org/clinvar/183016 ^@ NM_004523.3(KIF11):c.2300_2301delTT (p.Phe767Serfs) http://identifiers.org/clinvar/183017 ^@ NM_004523.3(KIF11):c.790-1G>A http://identifiers.org/clinvar/183018 ^@ NM_033087.3(ALG2):c.214_224delGGGGACTGGCTinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg) http://identifiers.org/clinvar/183019 ^@ NM_033087.3(ALG2):c.203T>G (p.Val68Gly) http://identifiers.org/clinvar/183020 ^@ NM_145239.2(PRRT2):c.650delG (p.Arg217Glnfs) http://identifiers.org/clinvar/183021 ^@ NM_001231.4(CASQ1):c.731A>G (p.Asp244Gly) http://identifiers.org/clinvar/183023 ^@ NM_021267.4(CERS1):c.549C>G (p.His183Gln) http://identifiers.org/clinvar/183027 ^@ NM_000756.3(CRH):c.89C>G (p.Pro30Arg) http://identifiers.org/clinvar/183028 ^@ NM_020822.2(KCNT1):c.2688G>A (p.Met896Ile) http://identifiers.org/clinvar/183029 ^@ NM_001242896.1(DEPDC5):c.2355-2A>G (p.Arg785_Gly839del) http://identifiers.org/clinvar/183030 ^@ NM_001242896.1(DEPDC5):c.4567C>T (p.Gln1523Ter) http://identifiers.org/clinvar/183033 ^@ NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25) http://identifiers.org/clinvar/183034 ^@ NG_031977.1:g.5321_5326GGGGCC(60_?) http://identifiers.org/clinvar/183041 ^@ NM_001039550.1(DNAJB2):c.229+1G>A http://identifiers.org/clinvar/183042 ^@ NM_001039550.1(DNAJB2):c.14A>G (p.Tyr5Cys) http://identifiers.org/clinvar/183043 ^@ NM_031433.3(MFRP):c.951C>A (p.Tyr317Ter) http://identifiers.org/clinvar/183044 ^@ NM_031433.3(MFRP):c.1622_1625delTCTG (p.Val541Alafs) http://identifiers.org/clinvar/183045 ^@ NM_031433.3(MFRP):c.201G>A (p.Trp67Ter) http://identifiers.org/clinvar/183046 ^@ NM_031433.3(MFRP):c.491_492insT (p.Asn167Glnfs) http://identifiers.org/clinvar/183047 ^@ NM_031433.3(MFRP):c.1549C>T (p.Arg517Trp) http://identifiers.org/clinvar/183048 ^@ NM_016042.3(EXOSC3):c.571G>T (p.Gly191Cys) http://identifiers.org/clinvar/183049 ^@ NM_006493.2(CLN5):c.935G>A (p.Ser312Asn) http://identifiers.org/clinvar/183050 ^@ NM_004275.4(MED20):c.341G>C (p.Gly114Ala) http://identifiers.org/clinvar/183054 ^@ NM_024741.2(ZNF408):c.-214_-210delGAATC http://identifiers.org/clinvar/183055 ^@ NM_024741.2(ZNF408):c.-111C>A http://identifiers.org/clinvar/183056 ^@ NM_024741.2(ZNF408):c.130C>T (p.Pro44Ser) http://identifiers.org/clinvar/183057 ^@ NM_024741.2(ZNF408):c.402A>G (p.Gln134=) http://identifiers.org/clinvar/183058 ^@ NM_024741.2(ZNF408):c.694A>G (p.Met232Val) http://identifiers.org/clinvar/183059 ^@ NM_024741.2(ZNF408):c.1850C>A (p.Thr617Asn) http://identifiers.org/clinvar/183060 ^@ NM_024741.2(ZNF408):c.2145G>T (p.Glu715Asp) http://identifiers.org/clinvar/183066 ^@ NM_002354.2(EPCAM):c.603A>G (p.Gln201=) http://identifiers.org/clinvar/183072 ^@ NM_000179.2(MSH6):c.1668T>C (p.Tyr556=) http://identifiers.org/clinvar/183081 ^@ NM_000179.2(MSH6):c.4001+10dupT http://identifiers.org/clinvar/183075 ^@ NM_000249.3(MLH1):c.69A>G (p.Glu23=) http://identifiers.org/clinvar/183068 ^@ NM_000249.3(MLH1):c.92C>G (p.Ala31Gly) http://identifiers.org/clinvar/183080 ^@ NM_001166110.1(PALLD):c.260_265delCGCCCC (p.Pro93_Pro94del) http://identifiers.org/clinvar/183078 ^@ NM_000038.5(APC):c.3149delC (p.Ala1050Glufs) http://identifiers.org/clinvar/183063 ^@ NM_000038.5(APC):c.3624C>T (p.Thr1208=) http://identifiers.org/clinvar/183061 ^@ NM_000038.5(APC):c.4618G>C (p.Glu1540Gln) http://identifiers.org/clinvar/183069 ^@ NM_000038.5(APC):c.4906G>T (p.Asp1636Tyr) http://identifiers.org/clinvar/183074 ^@ NM_000038.5(APC):c.6289G>C (p.Glu2097Gln) http://identifiers.org/clinvar/183076 ^@ NM_002485.4(NBN):c.286G>A (p.Gly96Ser) http://identifiers.org/clinvar/183067 ^@ NM_000264.3(PTCH1):c.2680G>A (p.Asp894Asn) http://identifiers.org/clinvar/183062 ^@ NM_000264.3(PTCH1):c.2105C>G (p.Pro702Arg) http://identifiers.org/clinvar/183073 ^@ NM_000314.6(PTEN):c.781C>T (p.Gln261Ter) http://identifiers.org/clinvar/183070 ^@ NM_000051.3(ATM):c.3067G>A (p.Gly1023Arg) http://identifiers.org/clinvar/183065 ^@ NM_130799.2(MEN1):c.1098A>T (p.Glu366Asp) http://identifiers.org/clinvar/183079 ^@ NM_130799.2(MEN1):c.206_207insGCCCC (p.Asp70Profs) http://identifiers.org/clinvar/183064 ^@ NM_000059.3(BRCA2):c.1329G>T (p.Glu443Asp) http://identifiers.org/clinvar/183077 ^@ NM_000059.3(BRCA2):c.3347_3348insTA (p.Leu1118Tyrfs) http://identifiers.org/clinvar/183071 ^@ NM_000546.5(TP53):c.649G>A (p.Val217Met) http://identifiers.org/clinvar/183082 ^@ NM_000527.4(LDLR):c.143G>A (p.Gly48Asp) http://identifiers.org/clinvar/183083 ^@ NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) http://identifiers.org/clinvar/183084 ^@ NM_000527.4(LDLR):c.314C>T (p.Pro105Leu) http://identifiers.org/clinvar/183085 ^@ NM_000527.4(LDLR):c.352G>T (p.Asp118Tyr) http://identifiers.org/clinvar/183086 ^@ NM_000527.4(LDLR):c.392A>G (p.Asp131Gly) http://identifiers.org/clinvar/183087 ^@ NM_000527.4(LDLR):c.409G>A (p.Gly137Ser) http://identifiers.org/clinvar/183088 ^@ NM_000527.4(LDLR):c.410G>T (p.Gly137Val) http://identifiers.org/clinvar/183136 ^@ NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) http://identifiers.org/clinvar/183089 ^@ NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) http://identifiers.org/clinvar/183090 ^@ NM_000527.4(LDLR):c.545A>G (p.Gln182Arg) http://identifiers.org/clinvar/183091 ^@ NM_000527.4(LDLR):c.589T>C (p.Cys197Arg) http://identifiers.org/clinvar/183137 ^@ NM_000527.4(LDLR):c.656G>A (p.Gly219Asp) http://identifiers.org/clinvar/183092 ^@ NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) http://identifiers.org/clinvar/183093 ^@ NM_000527.4(LDLR):c.665G>A (p.Cys222Tyr) http://identifiers.org/clinvar/183094 ^@ NM_000527.4(LDLR):c.770_771delGGinsAC (p.Arg257His) http://identifiers.org/clinvar/183095 ^@ NM_000527.4(LDLR):c.790A>C (p.Met264Leu) http://identifiers.org/clinvar/183096 ^@ NM_000527.4(LDLR):c.827G>C (p.Cys276Ser) http://identifiers.org/clinvar/183097 ^@ NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) http://identifiers.org/clinvar/183098 ^@ NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) http://identifiers.org/clinvar/183099 ^@ NM_000527.4(LDLR):c.853C>T (p.His285Tyr) http://identifiers.org/clinvar/183100 ^@ NM_000527.4(LDLR):c.892A>G (p.Met298Val) http://identifiers.org/clinvar/183101 ^@ NM_000527.4(LDLR):c.908G>A (p.Arg303Gln) http://identifiers.org/clinvar/183102 ^@ NM_000527.4(LDLR):c.940G>A (p.Gly314Arg) http://identifiers.org/clinvar/183103 ^@ NM_000527.4(LDLR):c.947A>G (p.Asn316Ser) http://identifiers.org/clinvar/183104 ^@ NM_000527.4(LDLR):c.988A>C (p.Asn330His) http://identifiers.org/clinvar/183105 ^@ NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) http://identifiers.org/clinvar/183106 ^@ NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) http://identifiers.org/clinvar/183107 ^@ NM_000527.4(LDLR):c.1105G>A (p.Val369Met) http://identifiers.org/clinvar/183108 ^@ NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) http://identifiers.org/clinvar/183138 ^@ NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) http://identifiers.org/clinvar/183109 ^@ NM_000527.4(LDLR):c.1195G>A (p.Ala399Thr) http://identifiers.org/clinvar/183110 ^@ NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) http://identifiers.org/clinvar/183111 ^@ NM_000527.4(LDLR):c.1294C>G (p.Leu432Val) http://identifiers.org/clinvar/183112 ^@ NM_000527.4(LDLR):c.1336C>G (p.Leu446Val) http://identifiers.org/clinvar/183113 ^@ NM_000527.4(LDLR):c.1381G>T (p.Gly461Cys) http://identifiers.org/clinvar/183114 ^@ NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) http://identifiers.org/clinvar/183115 ^@ NM_000527.4(LDLR):c.1402G>A (p.Val468Ile) http://identifiers.org/clinvar/183116 ^@ NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) http://identifiers.org/clinvar/183117 ^@ NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) http://identifiers.org/clinvar/183118 ^@ NM_000527.4(LDLR):c.1547G>A (p.Gly516Asp) http://identifiers.org/clinvar/183119 ^@ NM_000527.4(LDLR):c.1570G>A (p.Val524Met) http://identifiers.org/clinvar/183120 ^@ NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) http://identifiers.org/clinvar/183121 ^@ NM_000527.4(LDLR):c.1580T>C (p.Val527Ala) http://identifiers.org/clinvar/183122 ^@ NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) http://identifiers.org/clinvar/183123 ^@ NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) http://identifiers.org/clinvar/183124 ^@ NM_000527.4(LDLR):c.1747C>G (p.His583Asp) http://identifiers.org/clinvar/183125 ^@ NM_000527.4(LDLR):c.1765G>C (p.Asp589His) http://identifiers.org/clinvar/183126 ^@ NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) http://identifiers.org/clinvar/183127 ^@ NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) http://identifiers.org/clinvar/183128 ^@ NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) http://identifiers.org/clinvar/183129 ^@ NM_000527.4(LDLR):c.1954A>G (p.Met652Val) http://identifiers.org/clinvar/183130 ^@ NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) http://identifiers.org/clinvar/183131 ^@ NM_000527.4(LDLR):c.2116A>G (p.Arg706Gly) http://identifiers.org/clinvar/183132 ^@ NM_000527.4(LDLR):c.2126G>A (p.Arg709Lys) http://identifiers.org/clinvar/183133 ^@ NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) http://identifiers.org/clinvar/183134 ^@ NM_000527.4(LDLR):c.2356A>G (p.Ser786Gly) http://identifiers.org/clinvar/183135 ^@ NM_000527.4(LDLR):c.2398G>A (p.Val800Ile) http://identifiers.org/clinvar/183142 ^@ NM_016203.3(PRKAG2):c.1151G>C (p.Arg384Thr) http://identifiers.org/clinvar/183143 ^@ NM_014249.3(NR2E3):c.143_144delGCinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48Glnfs) http://identifiers.org/clinvar/183144 ^@ NM_032415.5(CARD11):c.368G>A (p.Gly123Asp) http://identifiers.org/clinvar/183145 ^@ NM_015634.3(KIF1BP):c.599C>A (p.Ser200Ter) http://identifiers.org/clinvar/183146 ^@ NM_015634.3(KIF1BP):c.604_605delAG (p.Arg202Ilefs) http://identifiers.org/clinvar/183147 ^@ NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del http://identifiers.org/clinvar/183148 ^@ NM_152268.3(PARS2):c.1130dupC (p.Lys378Terfs) http://identifiers.org/clinvar/183149 ^@ NM_152268.3(PARS2):c.836C>T (p.Ser279Leu) http://identifiers.org/clinvar/183150 ^@ NM_024678.5(NARS2):c.822G>C (p.Gln274His) http://identifiers.org/clinvar/183151 ^@ NM_024678.5(NARS2):c.641C>T (p.Pro214Leu) http://identifiers.org/clinvar/183152 ^@ NM_001199107.1(TBC1D24):c.119G>T (p.Arg40Leu) http://identifiers.org/clinvar/183153 ^@ NM_001199107.1(TBC1D24):c.313T>C (p.Cys105Arg) http://identifiers.org/clinvar/183154 ^@ NM_001199107.1(TBC1D24):c.328G>A (p.Gly110Ser) http://identifiers.org/clinvar/183155 ^@ NM_001199107.1(TBC1D24):c.999G>T (p.Leu333Phe) http://identifiers.org/clinvar/183157 ^@ NM_001199107.1(TBC1D24):c.1079G>T (p.Arg360Leu) http://identifiers.org/clinvar/183156 ^@ NM_001199107.1(TBC1D24):c.1460dupA (p.His487Glnfs) http://identifiers.org/clinvar/183158 ^@ NM_181507.1(HPS5):c.896+1823G>A http://identifiers.org/clinvar/183168 ^@ NM_000899.4(KITLG):c.98T>C (p.Val33Ala) http://identifiers.org/clinvar/183169 ^@ NM_000899.4(KITLG):c.100A>C (p.Thr34Pro) http://identifiers.org/clinvar/183170 ^@ NM_001195129.1(PRSS56):c.958G>A (p.Gly320Arg) http://identifiers.org/clinvar/183171 ^@ NM_001195129.1(PRSS56):c.904G>T (p.Val302Phe) http://identifiers.org/clinvar/183172 ^@ NM_001195129.1(PRSS56):c.833dupG (p.Val279Argfs) http://identifiers.org/clinvar/183173 ^@ NM_001195129.1(PRSS56):c.709G>A (p.Gly237Arg) http://identifiers.org/clinvar/183174 ^@ NM_001195129.1(PRSS56):c.1183T>C (p.Cys395Arg) http://identifiers.org/clinvar/183175 ^@ NM_001195129.1(PRSS56):c.1555G>A (p.Gly519Arg) http://identifiers.org/clinvar/183176 ^@ NM_001137601.2(ZBTB42):c.1190G>A (p.Arg397His) http://identifiers.org/clinvar/183182 ^@ NM_000059.3(BRCA2):c.712G>T (p.Glu238Ter) http://identifiers.org/clinvar/183184 ^@ NM_000059.3(BRCA2):c.5390delC (p.Ala1797Glufs) http://identifiers.org/clinvar/183185 ^@ NM_000059.3(BRCA2):c.7266T>A (p.Cys2422Ter) http://identifiers.org/clinvar/183180 ^@ NM_007294.3(BRCA1):c.5167delAinsTTT (p.Ile1723Phefs) http://identifiers.org/clinvar/183179 ^@ NM_007294.3(BRCA1):c.5057A>G (p.His1686Arg) http://identifiers.org/clinvar/183178 ^@ NM_007294.3(BRCA1):c.4998C>A (p.Tyr1666Ter) http://identifiers.org/clinvar/183177 ^@ NM_007294.3(BRCA1):c.3511A>T (p.Lys1171Ter) http://identifiers.org/clinvar/183181 ^@ NM_007294.3(BRCA1):c.5194-?_5277+?del http://identifiers.org/clinvar/183230 ^@ NM_006888.4(CALM1):c.389A>G (p.Asp130Gly) http://identifiers.org/clinvar/183231 ^@ NM_006888.4(CALM1):c.426C>G (p.Phe142Leu) http://identifiers.org/clinvar/183232 ^@ NM_006888.4(CALM1):c.268T>C (p.Phe90Leu) http://identifiers.org/clinvar/183233 ^@ NM_001305625.1(CALM2):c.179A>T (p.Asp60Val) http://identifiers.org/clinvar/183239 ^@ NM_020919.3(ALS2):c.2002G>T (p.Gly668Ter) http://identifiers.org/clinvar/183240 ^@ NM_020919.3(ALS2):c.4573dupG (p.Val1525Glyfs) http://identifiers.org/clinvar/183241 ^@ NM_006063.2(KLHL41):c.459delTinsACTC (p.Ser153_Ala154insLeu) http://identifiers.org/clinvar/183242 ^@ NM_006063.2(KLHL41):c.1748_1755delAGGAAATA (p.Lys583Thrfs) http://identifiers.org/clinvar/183243 ^@ NM_006063.2(KLHL41):c.641delA (p.Asn214Thrfs) http://identifiers.org/clinvar/183244 ^@ NM_006063.2(KLHL41):c.581_583delAAG (p.Glu194del) http://identifiers.org/clinvar/183245 ^@ NM_006063.2(KLHL41):c.1238C>T (p.Ser413Leu) http://identifiers.org/clinvar/183246 ^@ NM_000106.5(CYP2D6):c.1321C>T (p.Arg441Cys) http://identifiers.org/clinvar/183247 ^@ NM_000106.5(CYP2D6):c.1319G>A (p.Arg440His) http://identifiers.org/clinvar/183248 ^@ NM_000106.5(CYP2D6):c.368G>T (p.Arg123Leu) http://identifiers.org/clinvar/183253 ^@ NM_153427.2(PITX2):c.*454C>T http://identifiers.org/clinvar/183251 ^@ NM_001453.2(FOXC1):c.-429C>G http://identifiers.org/clinvar/183250 ^@ NM_001453.2(FOXC1):c.-244C>T http://identifiers.org/clinvar/183252 ^@ NM_001453.2(FOXC1):c.1134_1144delCGGCGGCGCGG (p.Gly380Argfs) http://identifiers.org/clinvar/183249 ^@ NM_001453.2(FOXC1):c.*734A>T http://identifiers.org/clinvar/183254 ^@ NM_002335.3(LRP5):c.1680G>T (p.Trp560Cys) http://identifiers.org/clinvar/183255 ^@ NM_002335.3(LRP5):c.3107G>A (p.Arg1036Gln) http://identifiers.org/clinvar/183256 ^@ NM_002335.3(LRP5):c.3403C>T (p.Arg1135Cys) http://identifiers.org/clinvar/183257 ^@ NM_001009944.2(PKD1):c.8293C>T (p.Arg2765Cys) http://identifiers.org/clinvar/183258 ^@ NM_002335.3(LRP5):c.1360G>A (p.Val454Met) http://identifiers.org/clinvar/183259 ^@ NM_032409.2(PINK1):c.799C>T (p.Gln267Ter) http://identifiers.org/clinvar/183260 ^@ NM_173842.1(IL1RN):c.-64_1696del http://identifiers.org/clinvar/183262 ^@ NM_001034853.1(RPGR):c.2426_2427delAG (p.Glu809Glyfs) http://identifiers.org/clinvar/183289 ^@ NM_004037.7(AMPD2):c.1619G>A (p.Arg540Gln) http://identifiers.org/clinvar/183315 ^@ NM_001127394.3(TSEN15):c.226T>G (p.Trp76Gly) http://identifiers.org/clinvar/183346 ^@ NM_016121.4(KCTD3):c.1036_1073del38 (p.Pro346Thrfs) http://identifiers.org/clinvar/183336 ^@ NM_020247.4(COQ8A):c.1744dupA (p.Ser582Lysfs) http://identifiers.org/clinvar/183341 ^@ NM_022786.2(ARV1):c.565G>A (p.Gly189Arg) http://identifiers.org/clinvar/183319 ^@ NM_002508.2(NID1):c.3385+1G>A http://identifiers.org/clinvar/183286 ^@ NM_147192.2(DMBX1):c.367C>T (p.Arg123Trp) http://identifiers.org/clinvar/183299 ^@ NM_207312.2(TUBA3E):c.643C>T (p.Arg215Cys) http://identifiers.org/clinvar/183328 ^@ NM_001044385.2(TMEM237):c.869+1G>A http://identifiers.org/clinvar/183278 ^@ NM_000784.3(CYP27A1):c.1342C>T (p.Arg448Cys) http://identifiers.org/clinvar/183280 ^@ NM_001135598.1(CLHC1):c.779G>A (p.Arg260Gln) http://identifiers.org/clinvar/183345 ^@ NM_194293.2(XIRP1):c.4495G>A (p.Glu1499Lys) http://identifiers.org/clinvar/183326 ^@ NM_015466.3(PTPN23):c.3995G>T (p.Arg1332Leu) http://identifiers.org/clinvar/183338 ^@ NM_033115.4(TBCK):c.1708+1G>A http://identifiers.org/clinvar/183297 ^@ NM_014822.3(SEC24D):c.697G>C (p.Gly233Arg) http://identifiers.org/clinvar/183349 ^@ NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) http://identifiers.org/clinvar/183337 ^@ NM_016955.3(SEPSECS):c.1027_1120del94 (p.Glu343Leufs) http://identifiers.org/clinvar/183329 ^@ NM_147127.4(EVC2):c.3870_3893dup24 (p.Lys1300_Ala1301insLysAsnPheLeuAsnAlaLysLys) http://identifiers.org/clinvar/183292 ^@ NM_022140.4(EPB41L4A):c.1298C>T (p.Ser433Leu) http://identifiers.org/clinvar/183327 ^@ NM_001999.3(FBN2):c.1064G>A (p.Gly355Asp) http://identifiers.org/clinvar/183300 ^@ NM_018938.3(PCDHB4):c.915delA (p.Lys305Asnfs) http://identifiers.org/clinvar/183344 ^@ NM_001079812.2(DIAPH1):c.2305C>T (p.Gln769Ter) http://identifiers.org/clinvar/183275 ^@ NM_000405.4(GM2A):c.164C>T (p.Pro55Leu) http://identifiers.org/clinvar/183325 ^@ NM_017785.4(SPDL1):c.1724_1747del24 (p.Ser575_Thr582del) http://identifiers.org/clinvar/183307 ^@ NM_023073.3(C5orf42):c.7988_7989delGA (p.Gly2663Alafs) http://identifiers.org/clinvar/183322 ^@ NM_002538.3(OCLN):c.514dupT (p.Tyr172Leufs) http://identifiers.org/clinvar/183357 ^@ NM_004722.3(AP4M1):c.952C>T (p.Arg318Ter) http://identifiers.org/clinvar/183291 ^@ NM_021908.2(ST7):c.489T>G (p.Tyr163Ter) http://identifiers.org/clinvar/183330 ^@ NM_021807.3(EXOC4):c.1733A>G (p.Gln578Arg) http://identifiers.org/clinvar/183311 ^@ NM_020223.3(FAM20C):c.1225C>T (p.Arg409Cys) http://identifiers.org/clinvar/183356 ^@ NM_207111.3(RNF216):c.2061G>A (p.Lys687=) http://identifiers.org/clinvar/183294 ^@ NM_015046.5(SETX):c.5222dupG (p.Asp1742Argfs) http://identifiers.org/clinvar/183343 ^@ NM_198841.2(FAM120AOS):c.743C>T (p.Thr248Ile) http://identifiers.org/clinvar/183293 ^@ NM_001909.4(CTSD):c.1155_1169dupGGGCGACGTCTTCAT (p.Phe389_Ile390insMetGlyAspValPhe) http://identifiers.org/clinvar/183284 ^@ NM_152316.2(ARL14EP):c.653G>A (p.Gly218Glu) http://identifiers.org/clinvar/183334 ^@ NM_006876.2(B4GAT1):c.821_822insTT (p.Glu274Aspfs) http://identifiers.org/clinvar/183312 ^@ NM_001082538.2(TCTN1):c.342-2A>G http://identifiers.org/clinvar/183276 ^@ NM_020374.3(C12orf4):c.639_640insACAA (p.Gln214Thrfs) http://identifiers.org/clinvar/183304 ^@ NM_020401.3(NUP107):c.303G>A (p.Met101Ile) http://identifiers.org/clinvar/183277 ^@ NM_001142294.1(SPG20):c.1450dupA (p.Thr484Asnfs) http://identifiers.org/clinvar/183333 ^@ NM_020751.2(COG6):c.1167-24A>G http://identifiers.org/clinvar/183348 ^@ NM_001079519.1(FAM177A1):c.297dupA (p.Trp100Metfs) http://identifiers.org/clinvar/183281 ^@ NM_006432.3(NPC2):c.88G>A (p.Val30Met) http://identifiers.org/clinvar/183353 ^@ NM_194279.3(ISCA2):c.229G>A (p.Gly77Ser) http://identifiers.org/clinvar/183320 ^@ NM_017553.2(INO80):c.3737G>A (p.Arg1246Gln) http://identifiers.org/clinvar/183321 ^@ NM_017553.2(INO80):c.1501T>C (p.Ser501Pro) http://identifiers.org/clinvar/183287 ^@ NM_020212.1(WDR93):c.280T>C (p.Tyr94His) http://identifiers.org/clinvar/183339 ^@ NM_004204.3(PIGQ):c.619C>T (p.Arg207Ter) http://identifiers.org/clinvar/183316 ^@ NM_017990.4(PDPR):c.1360G>T (p.Gly454Cys) http://identifiers.org/clinvar/183351 ^@ NM_138383.2(MTSS1L):c.1790C>T (p.Thr597Met) http://identifiers.org/clinvar/183303 ^@ NM_016373.3(WWOX):c.606-1G>A http://identifiers.org/clinvar/183354 ^@ NM_001146312.2(MYOCD):c.1252A>G (p.Ile418Val) http://identifiers.org/clinvar/183290 ^@ NM_001163809.1(WDR81):c.845G>A (p.Gly282Glu) http://identifiers.org/clinvar/183359 ^@ NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) http://identifiers.org/clinvar/183355 ^@ NM_001168215.1(TMEM92):c.95+3A>G http://identifiers.org/clinvar/183285 ^@ NM_198382.2(CACNA1G):c.667_669delTTC (p.Phe223del) http://identifiers.org/clinvar/183332 ^@ NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro) http://identifiers.org/clinvar/183313 ^@ NM_177550.4(SLC13A5):c.231+2T>G http://identifiers.org/clinvar/183310 ^@ NM_015721.2(GEMIN4):c.2452T>C (p.Trp818Arg) http://identifiers.org/clinvar/183335 ^@ NM_020812.3(DOCK6):c.1362_1365delAACT (p.Thr455Serfs) http://identifiers.org/clinvar/183306 ^@ NM_001031727.3(MRI1):c.629G>A (p.Arg210Gln) http://identifiers.org/clinvar/183301 ^@ NM_138422.3(ADAT3):c.430G>A (p.Val144Met) http://identifiers.org/clinvar/183298 ^@ NM_001031726.3(C19orf12):c.157G>A (p.Gly53Arg) http://identifiers.org/clinvar/183288 ^@ NM_133444.2(ZNF526):c.479A>C (p.Lys160Thr) http://identifiers.org/clinvar/183318 ^@ NM_007254.3(PNKP):c.1250_1251insAACGGGTCGCCATCGAC (p.Arg418Thrfs) http://identifiers.org/clinvar/183295 ^@ NM_030590.3(MATN4):c.515G>C (p.Gly172Ala) http://identifiers.org/clinvar/183282 ^@ NM_006420.2(ARFGEF2):c.656dupC (p.Val220Cysfs) http://identifiers.org/clinvar/183350 ^@ NM_005441.2(CHAF1B):c.496A>G (p.Ile166Val) http://identifiers.org/clinvar/183302 ^@ NM_001199562.1(PLA2G6):c.1749delC (p.Ser583Argfs) http://identifiers.org/clinvar/183317 ^@ NM_015214.2(DDHD2):c.1249_1891del http://identifiers.org/clinvar/183323 ^@ NM_024596.3(MCPH1):c.1_114del http://identifiers.org/clinvar/183362 ^@ NM_005572.3(LMNA):c.917T>G (p.Leu306Arg) http://identifiers.org/clinvar/183363 ^@ NM_133379.4(TTN):c.3002T>C (p.Met1001Thr) http://identifiers.org/clinvar/183364 ^@ NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) http://identifiers.org/clinvar/183365 ^@ NM_001081563.2(DMPK):c.704C>T (p.Thr235Met) http://identifiers.org/clinvar/183375 ^@ NM_003482.3(KMT2D):c.16413-1G>C http://identifiers.org/clinvar/183373 ^@ NM_003482.3(KMT2D):c.15235_15238delAATG (p.Asn5079Trpfs) http://identifiers.org/clinvar/183377 ^@ NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu) http://identifiers.org/clinvar/183372 ^@ NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter) http://identifiers.org/clinvar/183370 ^@ NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter) http://identifiers.org/clinvar/183376 ^@ NM_003482.3(KMT2D):c.11796_11813del18 (p.Gln3934_Gln3939del) http://identifiers.org/clinvar/183371 ^@ NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) http://identifiers.org/clinvar/183374 ^@ NM_003482.3(KMT2D):c.7481dupT (p.Ala2496Serfs) http://identifiers.org/clinvar/183368 ^@ NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter) http://identifiers.org/clinvar/183369 ^@ NM_021140.3(KDM6A):c.3736+2T>C http://identifiers.org/clinvar/183366 ^@ NC_000023.10:g.(?_43479884)_(46741003_?)del http://identifiers.org/clinvar/183367 ^@ NC_000023.10:g.(?_43479884)_(45501849_?)del http://identifiers.org/clinvar/183381 ^@ NM_005101.3(ISG15):c.163C>T (p.Gln55Ter) http://identifiers.org/clinvar/183387 ^@ NM_002024.5(FMR1):c.-128_-126(200) http://identifiers.org/clinvar/183383 ^@ NC_000002.12:g.147973457_148903258del http://identifiers.org/clinvar/183384 ^@ NC_000002.10:g.146798229_150310317del3512089 http://identifiers.org/clinvar/183385 ^@ NC_000002.12:g.(147958352_147973256)_(148177417_148263236)del http://identifiers.org/clinvar/183386 ^@ chr17:g.(AC027266_AL353996)_(AC015726-AC087393)del http://identifiers.org/clinvar/183388 ^@ NC_000023.9:g.146703942_146820448del http://identifiers.org/clinvar/183389 ^@ NM_000106.5(CYP2D6):c.963_981del19 (p.Met321Ilefs) http://identifiers.org/clinvar/183390 ^@ NM_002187.2(IL12B):c.298_305delTCGCTCCT (p.Ser100Alafs) http://identifiers.org/clinvar/183391 ^@ NM_004064.4(CDKN1B):c.59_77dup19 (p.Ser27Glyfs) http://identifiers.org/clinvar/183393 ^@ NM_004064.4(CDKN1B):c.206C>T (p.Pro69Leu) http://identifiers.org/clinvar/183394 ^@ NM_004064.4(CDKN1B):c.-456_-453delCCTT http://identifiers.org/clinvar/183395 ^@ NM_004064.4(CDKN1B):c.374_375delCT (p.Ser125Terfs) http://identifiers.org/clinvar/183396 ^@ NM_014875.2(KIF14):c.1750_1751delGA (p.Glu584Ilefs) http://identifiers.org/clinvar/183397 ^@ NM_014875.2(KIF14):c.1780A>T (p.Arg594Ter) http://identifiers.org/clinvar/183398 ^@ NC_000007.14:g.70640243_70738639del98397 http://identifiers.org/clinvar/183399 ^@ NC_000007.13:g.70236723_72383418del2146696 http://identifiers.org/clinvar/183400 ^@ NC_000007.14:g.70490496_70752696del262201 http://identifiers.org/clinvar/183411 ^@ NM_006912.5(RIT1):c.265T>C (p.Tyr89His) http://identifiers.org/clinvar/183410 ^@ NM_006912.5(RIT1):c.251C>T (p.Ala84Val) http://identifiers.org/clinvar/183409 ^@ NM_006912.5(RIT1):c.247A>C (p.Thr83Pro) http://identifiers.org/clinvar/183408 ^@ NM_006912.5(RIT1):c.244T>G (p.Phe82Val) http://identifiers.org/clinvar/183407 ^@ NM_006912.5(RIT1):c.244T>C (p.Phe82Leu) http://identifiers.org/clinvar/183406 ^@ NM_006912.5(RIT1):c.244T>A (p.Phe82Ile) http://identifiers.org/clinvar/183405 ^@ NM_006912.5(RIT1):c.242A>G (p.Glu81Gly) http://identifiers.org/clinvar/183404 ^@ NM_006912.5(RIT1):c.241G>C (p.Glu81Gln) http://identifiers.org/clinvar/183403 ^@ NM_006912.5(RIT1):c.229G>A (p.Ala77Thr) http://identifiers.org/clinvar/183402 ^@ NM_006912.5(RIT1):c.151G>T (p.Asp51Tyr) http://identifiers.org/clinvar/183401 ^@ NM_006912.5(RIT1):c.104G>C (p.Ser35Thr) http://identifiers.org/clinvar/183418 ^@ NM_002238.3(KCNH1):c.1405G>A (p.Gly469Arg) http://identifiers.org/clinvar/183417 ^@ NM_002238.3(KCNH1):c.1066G>C (p.Val356Leu) http://identifiers.org/clinvar/183416 ^@ NM_002238.3(KCNH1):c.1054C>G (p.Leu352Val) http://identifiers.org/clinvar/183415 ^@ NM_002238.3(KCNH1):c.1042G>A (p.Gly348Arg) http://identifiers.org/clinvar/183419 ^@ NM_002238.3(KCNH1):c.974C>A (p.Ser325Tyr) http://identifiers.org/clinvar/183414 ^@ NM_001693.3(ATP6V1B2):c.1454G>C (p.Arg485Pro) http://identifiers.org/clinvar/183420 ^@ NM_017831.3(RNF125):c.336G>A (p.Met112Ile) http://identifiers.org/clinvar/183421 ^@ NM_017831.3(RNF125):c.488C>T (p.Ser163Leu) http://identifiers.org/clinvar/183422 ^@ NM_017831.3(RNF125):c.520C>T (p.Arg174Cys) http://identifiers.org/clinvar/183426 ^@ NM_014246.1(CELSR1):c.5052_5053dupTG (p.Glu1685Valfs) http://identifiers.org/clinvar/183427 ^@ NM_014246.1(CELSR1):c.5723_5724delTG (p.Val1908Glyfs) http://identifiers.org/clinvar/183428 ^@ NM_016077.4(PTRH2):c.269_270delCT (p.Ala90Glyfs) http://identifiers.org/clinvar/183430 ^@ NM_138959.2(VANGL1):c.542G>A (p.Arg181Gln) http://identifiers.org/clinvar/183431 ^@ NM_003091.3(SNRPB):c.155+301G>C http://identifiers.org/clinvar/183432 ^@ NM_003091.3(SNRPB):c.155+302G>C http://identifiers.org/clinvar/183433 ^@ NM_003091.3(SNRPB):c.155+302G>T http://identifiers.org/clinvar/183434 ^@ NM_003091.3(SNRPB):c.155+406C>A http://identifiers.org/clinvar/183435 ^@ NM_003091.3(SNRPB):c.-72C>A http://identifiers.org/clinvar/183436 ^@ NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser) http://identifiers.org/clinvar/183645 ^@ NM_001127895.1(CHST8):c.229C>T (p.Arg77Trp) http://identifiers.org/clinvar/183660 ^@ NM_017534.5(MYH2):c.5609T>C (p.Leu1870Pro) http://identifiers.org/clinvar/194722 ^@ NM_001195263.1(PDZD7):c.2719-9C>A http://identifiers.org/clinvar/194723 ^@ NM_001195263.1(PDZD7):c.3092G>A (p.Arg1031His) http://identifiers.org/clinvar/194724 ^@ NM_001429.3(EP300):c.3143-4dupT http://identifiers.org/clinvar/194725 ^@ NM_001429.3(EP300):c.3143-4delT http://identifiers.org/clinvar/194726 ^@ NM_001110556.1(FLNA):c.2550C>T (p.Val850=) http://identifiers.org/clinvar/194727 ^@ NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) http://identifiers.org/clinvar/194728 ^@ NM_001844.4(COL2A1):c.1056delC (p.Ala353Glnfs) http://identifiers.org/clinvar/194729 ^@ NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) http://identifiers.org/clinvar/194730 ^@ NM_001849.3(COL6A2):c.1458+3C>T http://identifiers.org/clinvar/194731 ^@ NM_002206.2(ITGA7):c.2293A>G (p.Ile765Val) http://identifiers.org/clinvar/194732 ^@ NM_002420.5(TRPM1):c.2162G>A (p.Arg721Gln) http://identifiers.org/clinvar/194733 ^@ NM_002693.2(POLG):c.2724C>T (p.Ala908=) http://identifiers.org/clinvar/194734 ^@ NM_002743.3(PRKCSH):c.1460_1463delAAGA (p.Lys487Argfs) http://identifiers.org/clinvar/194735 ^@ NM_002863.4(PYGL):c.2112T>C (p.Ala704=) http://identifiers.org/clinvar/194736 ^@ NM_002977.3(SCN9A):c.3124C>T (p.Leu1042Phe) http://identifiers.org/clinvar/194737 ^@ NM_002977.3(SCN9A):c.3316G>T (p.Val1106Leu) http://identifiers.org/clinvar/194738 ^@ NM_003482.3(KMT2D):c.4642G>A (p.Asp1548Asn) http://identifiers.org/clinvar/194739 ^@ NM_003640.4(IKBKAP):c.1886G>A (p.Arg629His) http://identifiers.org/clinvar/194740 ^@ NM_004006.2(DMD):c.2039C>A (p.Thr680Asn) http://identifiers.org/clinvar/194741 ^@ NM_004006.2(DMD):c.2096C>G (p.Ala699Gly) http://identifiers.org/clinvar/194742 ^@ NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) http://identifiers.org/clinvar/194743 ^@ NM_004260.3(RECQL4):c.2953G>A (p.Val985Met) http://identifiers.org/clinvar/194744 ^@ NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) http://identifiers.org/clinvar/194745 ^@ NM_005045.3(RELN):c.2016G>A (p.Pro672=) http://identifiers.org/clinvar/194746 ^@ NM_005529.6(HSPG2):c.2326G>A (p.Val776Met) http://identifiers.org/clinvar/194747 ^@ NM_005603.4(ATP8B1):c.1892G>A (p.Arg631Gln) http://identifiers.org/clinvar/194748 ^@ NM_005609.3(PYGM):c.2009C>T (p.Ala670Val) http://identifiers.org/clinvar/194749 ^@ NM_005609.3(PYGM):c.2147T>G (p.Val716Gly) http://identifiers.org/clinvar/194750 ^@ NM_005609.3(PYGM):c.2024C>T (p.Ser675Leu) http://identifiers.org/clinvar/194751 ^@ NM_005677.3(COLQ):c.1350C>T (p.Pro450=) http://identifiers.org/clinvar/194752 ^@ NM_006037.3(HDAC4):c.2219-5dupC http://identifiers.org/clinvar/194753 ^@ NM_006059.3(LAMC3):c.2891-8C>T http://identifiers.org/clinvar/194754 ^@ NM_006080.2(SEMA3A):c.2151A>G (p.Thr717=) http://identifiers.org/clinvar/194755 ^@ NM_006204.3(PDE6C):c.2037-7T>C http://identifiers.org/clinvar/194756 ^@ NM_007126.3(VCP):c.2406T>C (p.Asp802=) http://identifiers.org/clinvar/194757 ^@ NM_007171.3(POMT1):c.1723delC (p.Leu575Trpfs) http://identifiers.org/clinvar/194758 ^@ NM_007171.3(POMT1):c.1764+3A>G http://identifiers.org/clinvar/194759 ^@ NM_012301.3(MAGI2):c.2958G>T (p.Met986Ile) http://identifiers.org/clinvar/194760 ^@ NM_014000.2(VCL):c.2453T>A (p.Leu818Gln) http://identifiers.org/clinvar/194761 ^@ NM_014008.4(CCDC22):c.*7G>A http://identifiers.org/clinvar/194762 ^@ NM_014008.4(CCDC22):c.*10G>A http://identifiers.org/clinvar/194763 ^@ NM_014191.3(SCN8A):c.3204C>T (p.Ser1068=) http://identifiers.org/clinvar/194764 ^@ NM_015102.4(NPHP4):c.2257G>A (p.Asp753Asn) http://identifiers.org/clinvar/194765 ^@ NM_015102.4(NPHP4):c.2203C>T (p.Arg735Trp) http://identifiers.org/clinvar/194766 ^@ NM_001127897.3(RPGRIP1L):c.2439A>G (p.Pro813=) http://identifiers.org/clinvar/194767 ^@ NM_015272.4(RPGRIP1L):c.2643T>A (p.Asn881Lys) http://identifiers.org/clinvar/194768 ^@ NM_016247.3(IMPG2):c.3423-7_3423-4delCTTT http://identifiers.org/clinvar/194769 ^@ NM_016616.4(NME8):c.1729G>A (p.Val577Ile) http://identifiers.org/clinvar/194770 ^@ NM_017777.3(MKS1):c.1506G>A (p.Ser502=) http://identifiers.org/clinvar/194771 ^@ NM_017780.3(CHD7):c.4137T>C (p.Asp1379=) http://identifiers.org/clinvar/194772 ^@ NM_015243.2(VPS13B):c.2470T>G (p.Ser824Ala) http://identifiers.org/clinvar/194773 ^@ NM_015243.2(VPS13B):c.2473G>A (p.Ala825Thr) http://identifiers.org/clinvar/194774 ^@ NM_017950.3(CCDC40):c.2824_2825insCTGT (p.Arg942Thrfs) http://identifiers.org/clinvar/194775 ^@ NM_018136.4(ASPM):c.4035A>G (p.Lys1345=) http://identifiers.org/clinvar/194776 ^@ NM_018451.4(CENPJ):c.3922G>A (p.Val1308Ile) http://identifiers.org/clinvar/194777 ^@ NM_020631.4(PLEKHG5):c.1932T>C (p.Pro644=) http://identifiers.org/clinvar/194778 ^@ NM_001145079.1(COG6):c.1693-12T>C http://identifiers.org/clinvar/194779 ^@ NM_020800.2(IFT80):c.1883G>A (p.Arg628Gln) http://identifiers.org/clinvar/194780 ^@ NM_001190241.1(IFT80):c.1453G>A (p.Ala485Thr) http://identifiers.org/clinvar/194781 ^@ NM_020822.2(KCNT1):c.1726G>A (p.Glu576Lys) http://identifiers.org/clinvar/194782 ^@ NM_020822.2(KCNT1):c.1769+16A>G http://identifiers.org/clinvar/194783 ^@ NM_020822.2(KCNT1):c.1620-15_1620-5dupCGCCCTGGCCC http://identifiers.org/clinvar/194784 ^@ NM_022124.5(CDH23):c.1803C>G (p.Val601=) http://identifiers.org/clinvar/194785 ^@ NM_001142617.1(STRA6):c.1605C>T (p.Leu535=) http://identifiers.org/clinvar/194786 ^@ NM_023110.2(FGFR1):c.2187-6C>T http://identifiers.org/clinvar/194787 ^@ NM_024312.4(GNPTAB):c.3326dupA (p.Asn1109Lysfs) http://identifiers.org/clinvar/194788 ^@ NM_024757.4(EHMT1):c.2595C>T (p.Asp865=) http://identifiers.org/clinvar/194789 ^@ NM_025074.6(FRAS1):c.1931delG (p.Gly644Valfs) http://identifiers.org/clinvar/194790 ^@ NM_025074.6(FRAS1):c.1947T>C (p.His649=) http://identifiers.org/clinvar/194791 ^@ NM_032119.3(ADGRV1):c.3244C>T (p.Pro1082Ser) http://identifiers.org/clinvar/194792 ^@ NM_032578.3(MYPN):c.3417C>T (p.Arg1139=) http://identifiers.org/clinvar/194793 ^@ NM_033100.3(CDHR1):c.2522_2528delTCTCTGA (p.Ile841Serfs) http://identifiers.org/clinvar/194794 ^@ NM_033100.3(CDHR1):c.2439T>C (p.Thr813=) http://identifiers.org/clinvar/194795 ^@ NM_033100.3(CDHR1):c.*4A>G http://identifiers.org/clinvar/194796 ^@ NM_052985.3(IFT122):c.2145+7A>G http://identifiers.org/clinvar/194797 ^@ NM_080680.2(COL11A2):c.1637G>A (p.Arg546Gln) http://identifiers.org/clinvar/194798 ^@ NM_153240.4(NPHP3):c.2344G>A (p.Val782Met) http://identifiers.org/clinvar/194799 ^@ NM_153240.4(NPHP3):c.2442T>C (p.Tyr814=) http://identifiers.org/clinvar/194800 ^@ NM_153603.3(COG7):c.2283C>T (p.Thr761=) http://identifiers.org/clinvar/194801 ^@ NM_172107.3(KCNQ2):c.2358G>A (p.Thr786=) http://identifiers.org/clinvar/194802 ^@ NM_198428.2(BBS9):c.1768G>A (p.Val590Ile) http://identifiers.org/clinvar/194803 ^@ NM_206933.2(USH2A):c.3489C>T (p.Asp1163=) http://identifiers.org/clinvar/194804 ^@ NM_207361.5(FREM2):c.8100T>G (p.Leu2700=) http://identifiers.org/clinvar/194805 ^@ NM_213599.2(ANO5):c.1898+1G>A http://identifiers.org/clinvar/194806 ^@ NM_001267550.2(TTN):c.41341C>T (p.Arg13781Cys) http://identifiers.org/clinvar/194807 ^@ NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) http://identifiers.org/clinvar/194808 ^@ NM_000182.4(HADHA):c.1918C>T (p.Gln640Ter) http://identifiers.org/clinvar/194809 ^@ NM_000271.4(NPC1):c.2795+19T>C http://identifiers.org/clinvar/194810 ^@ NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) http://identifiers.org/clinvar/194811 ^@ NM_000321.2(RB1):c.1696-1G>A http://identifiers.org/clinvar/194812 ^@ NM_000489.4(ATRX):c.4938A>G (p.Lys1646=) http://identifiers.org/clinvar/194813 ^@ NM_000503.5(EYA1):c.1699-8T>C http://identifiers.org/clinvar/194814 ^@ NM_000540.2(RYR1):c.1931G>A (p.Arg644His) http://identifiers.org/clinvar/194815 ^@ NM_000553.4(WRN):c.1992C>T (p.Leu664=) http://identifiers.org/clinvar/194816 ^@ NM_000875.4(IGF1R):c.3416G>A (p.Arg1139Gln) http://identifiers.org/clinvar/194817 ^@ NM_001080522.2(CC2D2A):c.2163G>A (p.Pro721=) http://identifiers.org/clinvar/194818 ^@ NM_001080522.2(CC2D2A):c.2181+7A>C http://identifiers.org/clinvar/194819 ^@ NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) http://identifiers.org/clinvar/194820 ^@ NM_001080522.2(CC2D2A):c.2039G>A (p.Arg680His) http://identifiers.org/clinvar/194821 ^@ NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) http://identifiers.org/clinvar/194822 ^@ NM_001135659.2(NRXN1):c.3484+3A>G http://identifiers.org/clinvar/194823 ^@ NM_001142800.1(EYS):c.2813A>G (p.Lys938Arg) http://identifiers.org/clinvar/194824 ^@ NM_006920.4(SCN1A):c.3660T>C (p.Ser1220=) http://identifiers.org/clinvar/194825 ^@ NM_001182.4(ALDH7A1):c.1567A>G (p.Thr523Ala) http://identifiers.org/clinvar/194826 ^@ NM_001277115.1(DNAH11):c.3466G>A (p.Gly1156Arg) http://identifiers.org/clinvar/194827 ^@ NM_001297.4(CNGB1):c.1626C>T (p.Thr542=) http://identifiers.org/clinvar/194828 ^@ NM_001844.4(COL2A1):c.1115G>A (p.Gly372Glu) http://identifiers.org/clinvar/194829 ^@ NM_001849.3(COL6A2):c.1521+5G>A http://identifiers.org/clinvar/194830 ^@ NM_001851.4(COL9A1):c.1288-9A>G http://identifiers.org/clinvar/194831 ^@ NM_001851.4(COL9A1):c.1341+5G>A http://identifiers.org/clinvar/194832 ^@ NM_001853.3(COL9A3):c.901-9T>C http://identifiers.org/clinvar/194835 ^@ NM_001876.3(CPT1A):c.2198A>G (p.Asn733Ser) http://identifiers.org/clinvar/194836 ^@ NM_002335.3(LRP5):c.4000+10T>A http://identifiers.org/clinvar/194837 ^@ NM_002335.3(LRP5):c.3990G>A (p.Ala1330=) http://identifiers.org/clinvar/194838 ^@ NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) http://identifiers.org/clinvar/194839 ^@ NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) http://identifiers.org/clinvar/194840 ^@ NM_003494.3(DYSF):c.1572C>T (p.Asn524=) http://identifiers.org/clinvar/194841 ^@ NM_003688.3(CASK):c.1718C>T (p.Thr573Ile) http://identifiers.org/clinvar/194842 ^@ NM_003742.2(ABCB11):c.2093G>A (p.Arg698His) http://identifiers.org/clinvar/194843 ^@ NM_003835.3(RGS9):c.1658T>C (p.Val553Ala) http://identifiers.org/clinvar/194844 ^@ NM_004006.2(DMD):c.2261G>T (p.Gly754Val) http://identifiers.org/clinvar/194845 ^@ NM_004006.2(DMD):c.2200T>C (p.Trp734Arg) http://identifiers.org/clinvar/194846 ^@ NM_004082.4(DCTN1):c.2158C>G (p.Leu720Val) http://identifiers.org/clinvar/194849 ^@ NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val) http://identifiers.org/clinvar/194850 ^@ NM_004380.2(CREBBP):c.3370-5_3370-4delTT http://identifiers.org/clinvar/194851 ^@ NM_005045.3(RELN):c.2201T>A (p.Val734Asp) http://identifiers.org/clinvar/194852 ^@ NM_005045.3(RELN):c.2125A>T (p.Met709Leu) http://identifiers.org/clinvar/194853 ^@ NM_005045.3(RELN):c.2125A>G (p.Met709Val) http://identifiers.org/clinvar/194854 ^@ NM_006031.5(PCNT):c.3549C>T (p.Ile1183=) http://identifiers.org/clinvar/194855 ^@ NM_006208.2(ENPP1):c.1791T>C (p.Asn597=) http://identifiers.org/clinvar/194856 ^@ NM_006846.3(SPINK5):c.1659C>T (p.Val553=) http://identifiers.org/clinvar/194857 ^@ NM_006922.3(SCN3A):c.3250G>A (p.Val1084Ile) http://identifiers.org/clinvar/194858 ^@ NM_006922.3(SCN3A):c.3253A>G (p.Ile1085Val) http://identifiers.org/clinvar/194859 ^@ NM_007171.3(POMT1):c.1864C>T (p.Arg622Ter) http://identifiers.org/clinvar/194860 ^@ NM_012414.3(RAB3GAP2):c.1836C>A (p.Ile612=) http://identifiers.org/clinvar/194861 ^@ NM_012448.3(STAT5B):c.2237+15T>C http://identifiers.org/clinvar/194862 ^@ NM_012463.3(ATP6V0A2):c.2229T>C (p.Cys743=) http://identifiers.org/clinvar/194863 ^@ NM_013382.5(POMT2):c.1881G>A (p.Ala627=) http://identifiers.org/clinvar/194864 ^@ NM_014000.2(VCL):c.2652G>A (p.Glu884=) http://identifiers.org/clinvar/194865 ^@ NM_015102.4(NPHP4):c.2465A>G (p.His822Arg) http://identifiers.org/clinvar/194866 ^@ NM_015102.4(NPHP4):c.2425A>G (p.Lys809Glu) http://identifiers.org/clinvar/194867 ^@ NM_015107.2(PHF8):c.2210C>G (p.Ser737Ter) http://identifiers.org/clinvar/194869 ^@ NM_017617.4(NOTCH1):c.2769A>G (p.Thr923=) http://identifiers.org/clinvar/194870 ^@ NM_017651.4(AHI1):c.2505G>A (p.Arg835=) http://identifiers.org/clinvar/194871 ^@ NM_001165927.1(MKS1):c.1610C>T (p.Pro537Leu) http://identifiers.org/clinvar/194872 ^@ NM_018136.4(ASPM):c.4867A>G (p.Met1623Val) http://identifiers.org/clinvar/194873 ^@ NM_018136.4(ASPM):c.7982T>G (p.Leu2661Arg) http://identifiers.org/clinvar/194874 ^@ NM_018136.4(ASPM):c.5833A>G (p.Ile1945Val) http://identifiers.org/clinvar/194875 ^@ NM_018136.4(ASPM):c.4309C>T (p.Arg1437Cys) http://identifiers.org/clinvar/194876 ^@ NM_018136.4(ASPM):c.5940C>T (p.Tyr1980=) http://identifiers.org/clinvar/194877 ^@ NM_018136.4(ASPM):c.8068C>T (p.Arg2690Trp) http://identifiers.org/clinvar/194878 ^@ NM_018136.4(ASPM):c.8228G>A (p.Arg2743Gln) http://identifiers.org/clinvar/194879 ^@ NM_018136.4(ASPM):c.7475G>A (p.Arg2492Lys) http://identifiers.org/clinvar/194880 ^@ NM_018136.4(ASPM):c.4387A>G (p.Lys1463Glu) http://identifiers.org/clinvar/194881 ^@ NM_020631.4(PLEKHG5):c.2001T>C (p.Ser667=) http://identifiers.org/clinvar/194882 ^@ NM_020822.2(KCNT1):c.1899G>A (p.Ser633=) http://identifiers.org/clinvar/194883 ^@ NM_020822.2(KCNT1):c.1927C>T (p.Arg643Trp) http://identifiers.org/clinvar/194884 ^@ NM_020921.3(NIN):c.3959A= (p.Glu1320=) http://identifiers.org/clinvar/194885 ^@ NM_001291415.1(KDM6A):c.2859-7_2859-5del http://identifiers.org/clinvar/194886 ^@ NM_022067.3(VIPAS39):c.1242G>A (p.Leu414=) http://identifiers.org/clinvar/194887 ^@ NM_022067.3(VIPAS39):c.1199A>G (p.Lys400Arg) http://identifiers.org/clinvar/194888 ^@ NM_022124.5(CDH23):c.1963G>A (p.Val655Ile) http://identifiers.org/clinvar/194889 ^@ NM_022124.5(CDH23):c.1919C>T (p.Thr640Met) http://identifiers.org/clinvar/194890 ^@ NM_022455.4(NSD1):c.5635A>G (p.Ile1879Val) http://identifiers.org/clinvar/194891 ^@ NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) http://identifiers.org/clinvar/194892 ^@ NM_024757.4(EHMT1):c.2691T>G (p.Ser897=) http://identifiers.org/clinvar/194893 ^@ NM_024757.4(EHMT1):c.2695A>G (p.Ile899Val) http://identifiers.org/clinvar/194894 ^@ NM_025114.3(CEP290):c.1716A>G (p.Leu572=) http://identifiers.org/clinvar/194895 ^@ NM_031220.3(PITPNM3):c.2355G>A (p.Pro785=) http://identifiers.org/clinvar/194896 ^@ NM_032682.5(FOXP1):c.1624C>T (p.Gln542Ter) http://identifiers.org/clinvar/194897 ^@ NM_032682.5(FOXP1):c.1652+5G>A http://identifiers.org/clinvar/194898 ^@ NM_033056.3(PCDH15):c.2161C>G (p.Leu721Val) http://identifiers.org/clinvar/194899 ^@ NM_033071.3(SYNE1):c.1767T>C (p.Asn589=) http://identifiers.org/clinvar/194900 ^@ NM_033071.3(SYNE1):c.1899A>G (p.Gln633=) http://identifiers.org/clinvar/194901 ^@ NM_052985.3(IFT122):c.2146-7G>C http://identifiers.org/clinvar/194902 ^@ NM_053025.3(MYLK):c.3027G>A (p.Glu1009=) http://identifiers.org/clinvar/194903 ^@ NM_053025.3(MYLK):c.3402C>T (p.Asn1134=) http://identifiers.org/clinvar/194904 ^@ NM_053025.3(MYLK):c.3196_3198delGAA (p.Glu1066del) http://identifiers.org/clinvar/194905 ^@ NM_001267550.2(TTN):c.3030C>T (p.Ser1010=) http://identifiers.org/clinvar/194906 ^@ NM_015384.4(NIPBL):c.4161T>C (p.Tyr1387=) http://identifiers.org/clinvar/194907 ^@ NM_181426.1(CCDC39):c.2534T>C (p.Ile845Thr) http://identifiers.org/clinvar/194908 ^@ NM_206933.2(USH2A):c.3861A>G (p.Lys1287=) http://identifiers.org/clinvar/194909 ^@ NM_207361.5(FREM2):c.8206G>A (p.Gly2736Ser) http://identifiers.org/clinvar/194910 ^@ NM_001256850.1(TTN):c.39154C>T (p.Arg13052Cys) http://identifiers.org/clinvar/194911 ^@ NM_000061.2(BTK):c.1909-9T>C http://identifiers.org/clinvar/194912 ^@ NM_000070.2(CAPN3):c.2099T>C (p.Met700Thr) http://identifiers.org/clinvar/194913 ^@ NM_000095.2(COMP):c.2262G>A (p.Leu754=) http://identifiers.org/clinvar/194914 ^@ NM_000152.4(GAA):c.2739C>G (p.Pro913=) http://identifiers.org/clinvar/194915 ^@ NM_000180.3(GUCY2D):c.3225-7C>T http://identifiers.org/clinvar/194916 ^@ NM_000180.3(GUCY2D):c.3297G>A (p.Pro1099=) http://identifiers.org/clinvar/194917 ^@ NM_000182.4(HADHA):c.2146+1G>A http://identifiers.org/clinvar/194918 ^@ NM_000275.2(OCA2):c.2020C>G (p.Leu674Val) http://identifiers.org/clinvar/194919 ^@ NM_000350.2(ABCA4):c.2902G>A (p.Gly968Arg) http://identifiers.org/clinvar/194920 ^@ NM_000426.3(LAMA2):c.2749+1G>C http://identifiers.org/clinvar/194921 ^@ NM_000443.3(ABCB4):c.2363G>A (p.Arg788Gln) http://identifiers.org/clinvar/194922 ^@ NM_000492.3(CFTR):c.3024C>T (p.Val1008=) http://identifiers.org/clinvar/194923 ^@ NM_000540.2(RYR1):c.2319C>T (p.Asp773=) http://identifiers.org/clinvar/194924 ^@ NM_000548.4(TSC2):c.2006C>T (p.Pro669Leu) http://identifiers.org/clinvar/194925 ^@ NM_000702.3(ATP1A2):c.2675T>C (p.Met892Thr) http://identifiers.org/clinvar/194926 ^@ NM_001083962.1(TCF4):c.*1A>G http://identifiers.org/clinvar/194927 ^@ NM_001127221.1(CACNA1A):c.2988_2989insGAGGGC (p.Gly996_Pro997insGluGly) http://identifiers.org/clinvar/194928 ^@ NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) http://identifiers.org/clinvar/194929 ^@ NM_001127500.2(MET):c.3742T>C (p.Tyr1248His) http://identifiers.org/clinvar/194930 ^@ NM_001135659.2(NRXN1):c.3619C>T (p.Arg1207Ter) http://identifiers.org/clinvar/194931 ^@ NM_001142800.1(EYS):c.2971C>T (p.Leu991Phe) http://identifiers.org/clinvar/194932 ^@ NM_006920.4(SCN1A):c.3833T>C (p.Phe1278Ser) http://identifiers.org/clinvar/194933 ^@ NM_006920.4(SCN1A):c.3699G>A (p.Gln1233=) http://identifiers.org/clinvar/194934 ^@ NM_001110556.1(FLNA):c.2826+7A>G http://identifiers.org/clinvar/194935 ^@ NM_001457.3(FLNB):c.2773G>T (p.Gly925Cys) http://identifiers.org/clinvar/194936 ^@ NM_001605.2(AARS):c.2521-3C>T http://identifiers.org/clinvar/194937 ^@ NM_001844.4(COL2A1):c.1214delG (p.Gly405Valfs) http://identifiers.org/clinvar/194938 ^@ NM_001851.4(COL9A1):c.1349A>G (p.Glu450Gly) http://identifiers.org/clinvar/194939 ^@ NM_001852.3(COL9A2):c.1007C>A (p.Ala336Glu) http://identifiers.org/clinvar/194940 ^@ NM_002025.3(AFF2):c.3576T>C (p.Asn1192=) http://identifiers.org/clinvar/194941 ^@ NM_002206.2(ITGA7):c.2433-6C>T http://identifiers.org/clinvar/194942 ^@ NM_002222.5(ITPR1):c.1962-3T>C http://identifiers.org/clinvar/194943 ^@ NM_002335.3(LRP5):c.4089C>T (p.Asp1363=) http://identifiers.org/clinvar/194944 ^@ NM_002420.5(TRPM1):c.2419G>A (p.Glu807Lys) http://identifiers.org/clinvar/194945 ^@ NM_002471.3(MYH6):c.2217T>C (p.Asp739=) http://identifiers.org/clinvar/194946 ^@ NM_002693.2(POLG):c.3014T>G (p.Val1005Gly) http://identifiers.org/clinvar/194947 ^@ NM_002977.3(SCN9A):c.3473A>C (p.Asn1158Thr) http://identifiers.org/clinvar/194948 ^@ NM_003165.3(STXBP1):c.1804A>G (p.Met602Val) http://identifiers.org/clinvar/194949 ^@ NM_003482.3(KMT2D):c.4745C>G (p.Pro1582Arg) http://identifiers.org/clinvar/194950 ^@ NM_003995.3(NPR2):c.2723T>C (p.Ile908Thr) http://identifiers.org/clinvar/194951 ^@ NM_004006.2(DMD):c.2380+10C>T http://identifiers.org/clinvar/194952 ^@ NM_004006.2(DMD):c.2330T>C (p.Leu777Pro) http://identifiers.org/clinvar/194953 ^@ NM_004082.4(DCTN1):c.2209G>A (p.Glu737Lys) http://identifiers.org/clinvar/194954 ^@ NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) http://identifiers.org/clinvar/194955 ^@ NM_004380.2(CREBBP):c.3698+7G>A http://identifiers.org/clinvar/194956 ^@ NM_001271208.1(NEB):c.1748T>C (p.Leu583Pro) http://identifiers.org/clinvar/194957 ^@ NM_005709.3(USH1C):c.1491G>A (p.Val497=) http://identifiers.org/clinvar/194958 ^@ NM_006059.3(LAMC3):c.3250G>C (p.Glu1084Gln) http://identifiers.org/clinvar/194959 ^@ NM_006059.3(LAMC3):c.3379G>A (p.Glu1127Lys) http://identifiers.org/clinvar/194960 ^@ NM_006343.2(MERTK):c.2593C>T (p.Arg865Trp) http://identifiers.org/clinvar/194961 ^@ NM_006348.3(COG5):c.2185A>G (p.Met729Val) http://identifiers.org/clinvar/194962 ^@ NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu) http://identifiers.org/clinvar/194964 ^@ NM_012470.3(TNPO3):c.2326A>G (p.Ile776Val) http://identifiers.org/clinvar/194965 ^@ NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) http://identifiers.org/clinvar/194966 ^@ NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) http://identifiers.org/clinvar/194967 ^@ NM_014141.5(CNTNAP2):c.3111C>T (p.Pro1037=) http://identifiers.org/clinvar/194968 ^@ NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) http://identifiers.org/clinvar/194969 ^@ NM_015074.3(KIF1B):c.1863G>A (p.Leu621=) http://identifiers.org/clinvar/194970 ^@ NM_015102.4(NPHP4):c.2510G>A (p.Arg837Lys) http://identifiers.org/clinvar/194971 ^@ NM_015294.4(TRIM37):c.2049C>T (p.Ala683=) http://identifiers.org/clinvar/194972 ^@ NM_015311.2(OBSL1):c.5309-4C>G http://identifiers.org/clinvar/194973 ^@ NM_015311.2(OBSL1):c.5400delA (p.Leu1801Trpfs) http://identifiers.org/clinvar/194974 ^@ NM_015386.2(COG4):c.2310C>G (p.Arg770=) http://identifiers.org/clinvar/194975 ^@ NM_017534.5(MYH2):c.2106C>T (p.Asn702=) http://identifiers.org/clinvar/194976 ^@ NM_018136.4(ASPM):c.8821-9A>G http://identifiers.org/clinvar/194977 ^@ NM_020631.4(PLEKHG5):c.2163_2168delGGAGGA (p.Glu722_Glu723del) http://identifiers.org/clinvar/194978 ^@ NM_020631.4(PLEKHG5):c.2163G>A (p.Glu721=) http://identifiers.org/clinvar/194979 ^@ NM_020631.4(PLEKHG5):c.2166_2168delGGA (p.Glu723del) http://identifiers.org/clinvar/194980 ^@ NM_020822.2(KCNT1):c.2235C>T (p.Ser745=) http://identifiers.org/clinvar/194981 ^@ NM_020822.2(KCNT1):c.2214G>A (p.Pro738=) http://identifiers.org/clinvar/194982 ^@ NM_020822.2(KCNT1):c.2052G>A (p.Thr684=) http://identifiers.org/clinvar/194983 ^@ NM_020822.2(KCNT1):c.2217G>A (p.Ser739=) http://identifiers.org/clinvar/194984 ^@ NM_021150.3(GRIP1):c.2450G>A (p.Arg817Gln) http://identifiers.org/clinvar/194985 ^@ NM_023073.3(C5orf42):c.3381G>C (p.Ser1127=) http://identifiers.org/clinvar/194986 ^@ NM_024312.4(GNPTAB):c.3560_3561delAG (p.Glu1187Valfs) http://identifiers.org/clinvar/194987 ^@ NM_024408.3(NOTCH2):c.3046G>A (p.Gly1016Ser) http://identifiers.org/clinvar/194988 ^@ NM_025114.3(CEP290):c.1860_1863delAAGA (p.Arg621Ilefs) http://identifiers.org/clinvar/194989 ^@ NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) http://identifiers.org/clinvar/194991 ^@ NM_033071.3(SYNE1):c.2004C>T (p.Asn668=) http://identifiers.org/clinvar/194992 ^@ NM_144966.5(FREM1):c.3147C>T (p.Ser1049=) http://identifiers.org/clinvar/194993 ^@ NM_153252.4(BRWD3):c.2083A>G (p.Asn695Asp) http://identifiers.org/clinvar/194994 ^@ NM_181426.1(CCDC39):c.2660dupT (p.Ser888Ilefs) http://identifiers.org/clinvar/194995 ^@ NM_198428.2(BBS9):c.2105C>A (p.Thr702Asn) http://identifiers.org/clinvar/194996 ^@ NM_198525.2(KIF7):c.3998C>A (p.Pro1333Gln) http://identifiers.org/clinvar/194997 ^@ NM_198525.2(KIF7):c.3665-5G>A http://identifiers.org/clinvar/194998 ^@ NM_198525.2(KIF7):c.3914G>A (p.Arg1305Gln) http://identifiers.org/clinvar/194999 ^@ NM_198525.2(KIF7):c.3795G>A (p.Thr1265=) http://identifiers.org/clinvar/195000 ^@ NM_198525.2(KIF7):c.3944C>T (p.Pro1315Leu) http://identifiers.org/clinvar/195001 ^@ NM_000445.4(PLEC):c.2318G>A (p.Arg773His) http://identifiers.org/clinvar/195002 ^@ NM_213599.2(ANO5):c.2172_2178delTCATAGC (p.His725Terfs) http://identifiers.org/clinvar/195003 ^@ NM_213599.2(ANO5):c.2176dupA (p.Ser726Lysfs) http://identifiers.org/clinvar/195004 ^@ NM_213599.2(ANO5):c.2141C>G (p.Thr714Ser) http://identifiers.org/clinvar/195005 ^@ NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) http://identifiers.org/clinvar/195006 ^@ NM_001256850.1(TTN):c.41528G>A (p.Arg13843Lys) http://identifiers.org/clinvar/195007 ^@ NM_000026.3(ADSL):c.247C>T (p.Arg83Cys) http://identifiers.org/clinvar/195008 ^@ NM_000026.3(ADSL):c.307G>T (p.Ala103Ser) http://identifiers.org/clinvar/195009 ^@ NM_000059.3(BRCA2):c.16A>C (p.Lys6Gln) http://identifiers.org/clinvar/195010 ^@ NM_000067.2(CA2):c.35-7C>A http://identifiers.org/clinvar/195011 ^@ NM_000070.2(CAPN3):c.319G>A (p.Glu107Lys) http://identifiers.org/clinvar/195012 ^@ NM_000082.3(ERCC8):c.127G>A (p.Gly43Ser) http://identifiers.org/clinvar/195013 ^@ NM_000089.3(COL1A2):c.71-7delT http://identifiers.org/clinvar/195014 ^@ NM_000093.4(COL5A1):c.240C>T (p.Asp80=) http://identifiers.org/clinvar/195015 ^@ NM_000100.3(CSTB):c.121G>A (p.Val41Met) http://identifiers.org/clinvar/195016 ^@ NM_000104.3(CYP1B1):c.45G>T (p.Pro15=) http://identifiers.org/clinvar/195017 ^@ NM_000112.3(SLC26A2):c.24A>G (p.Gln8=) http://identifiers.org/clinvar/195018 ^@ NM_000152.4(GAA):c.271_272delGAinsAG (p.Asp91Ser) http://identifiers.org/clinvar/195019 ^@ NM_000152.4(GAA):c.318C>T (p.Arg106=) http://identifiers.org/clinvar/195020 ^@ NM_000153.3(GALC):c.205C>T (p.Arg69Ter) http://identifiers.org/clinvar/195021 ^@ NM_000155.3(GALT):c.83-3C>G http://identifiers.org/clinvar/195022 ^@ NM_000156.5(GAMT):c.227C>T (p.Ser76Leu) http://identifiers.org/clinvar/195023 ^@ NM_000158.3(GBE1):c.170A>G (p.Lys57Arg) http://identifiers.org/clinvar/195024 ^@ NM_000162.3(GCK):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/195025 ^@ NM_001097642.2(GJB1):c.271G>A (p.Val91Met) http://identifiers.org/clinvar/195026 ^@ NM_000169.2(GLA):c.369+1G>A http://identifiers.org/clinvar/195027 ^@ NM_000169.2(GLA):c.361_364delGCTA (p.Ala121Ilefs) http://identifiers.org/clinvar/195028 ^@ NM_000169.2(GLA):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/195029 ^@ NM_000180.3(GUCY2D):c.271G>C (p.Ala91Pro) http://identifiers.org/clinvar/195030 ^@ NM_000180.3(GUCY2D):c.519C>T (p.Tyr173=) http://identifiers.org/clinvar/195031 ^@ NM_000180.3(GUCY2D):c.369C>T (p.Gly123=) http://identifiers.org/clinvar/195033 ^@ NM_000191.2(HMGCL):c.109G>T (p.Glu37Ter) http://identifiers.org/clinvar/195034 ^@ NM_000192.3(TBX5):c.114C>T (p.Ser38=) http://identifiers.org/clinvar/195035 ^@ NM_000194.2(HPRT1):c.134+6_134+9delTAAG http://identifiers.org/clinvar/195036 ^@ NM_000202.7(IDS):c.104A>G (p.Asp35Gly) http://identifiers.org/clinvar/195037 ^@ NM_000202.7(IDS):c.208dupC (p.His70Profs) http://identifiers.org/clinvar/195038 ^@ NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) http://identifiers.org/clinvar/195039 ^@ NM_000203.4(IDUA):c.245A>C (p.His82Pro) http://identifiers.org/clinvar/195040 ^@ NM_000203.4(IDUA):c.191_192delAC (p.Tyr64Cysfs) http://identifiers.org/clinvar/195041 ^@ NM_000208.3(INSR):c.190T>C (p.Leu64=) http://identifiers.org/clinvar/195042 ^@ NM_000217.2(KCNA1):c.1327C>G (p.Arg443Gly) http://identifiers.org/clinvar/195043 ^@ NM_000217.2(KCNA1):c.*9G>A http://identifiers.org/clinvar/195044 ^@ NM_000217.2(KCNA1):c.237G>A (p.Glu79=) http://identifiers.org/clinvar/195045 ^@ NM_000217.2(KCNA1):c.1296C>G (p.Ser432=) http://identifiers.org/clinvar/195046 ^@ NM_000217.2(KCNA1):c.1479C>A (p.Thr493=) http://identifiers.org/clinvar/195047 ^@ NM_000231.2(SGCG):c.58A>G (p.Asn20Asp) http://identifiers.org/clinvar/195048 ^@ NM_000232.4(SGCB):c.34-3T>G http://identifiers.org/clinvar/195049 ^@ NM_000235.3(LIPA):c.46A>C (p.Thr16Pro) http://identifiers.org/clinvar/195050 ^@ NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) http://identifiers.org/clinvar/195051 ^@ NM_000263.3(NAGLU):c.531+50G>C http://identifiers.org/clinvar/195052 ^@ NM_000264.3(PTCH1):c.343G>T (p.Gly115Ter) http://identifiers.org/clinvar/195053 ^@ NM_000266.3(NDP):c.11A>T (p.His4Leu) http://identifiers.org/clinvar/195054 ^@ NM_000274.3(OAT):c.199+4C>T http://identifiers.org/clinvar/195055 ^@ NM_000275.2(OCA2):c.45G>A (p.Pro15=) http://identifiers.org/clinvar/195056 ^@ NM_000283.3(PDE6B):c.485C>T (p.Ser162Leu) http://identifiers.org/clinvar/195057 ^@ NM_000287.3(PEX6):c.896G>C (p.Gly299Ala) http://identifiers.org/clinvar/195058 ^@ NM_000290.3(PGAM2):c.484C>T (p.Arg162Trp) http://identifiers.org/clinvar/195059 ^@ NM_000308.3(CTSA):c.108_110delGCT (p.Leu37del) http://identifiers.org/clinvar/195060 ^@ NM_000314.6(PTEN):c.88C>A (p.Pro30Thr) http://identifiers.org/clinvar/195061 ^@ NM_000314.6(PTEN):c.122G>T (p.Arg41Ile) http://identifiers.org/clinvar/195062 ^@ NM_000322.4(PRPH2):c.725A>G (p.Glu242Gly) http://identifiers.org/clinvar/195063 ^@ NM_000327.3(ROM1):c.812T>C (p.Met271Thr) http://identifiers.org/clinvar/195064 ^@ NM_000327.3(ROM1):c.686G>A (p.Arg229His) http://identifiers.org/clinvar/195065 ^@ NM_000329.2(RPE65):c.80C>T (p.Thr27Ile) http://identifiers.org/clinvar/195066 ^@ NM_000346.3(SOX9):c.519G>A (p.Lys173=) http://identifiers.org/clinvar/195067 ^@ NM_000346.3(SOX9):c.530G>A (p.Arg177Gln) http://identifiers.org/clinvar/195068 ^@ NM_000346.3(SOX9):c.535A>G (p.Arg179Gly) http://identifiers.org/clinvar/195069 ^@ NM_000346.3(SOX9):c.685+8G>A http://identifiers.org/clinvar/195070 ^@ NM_000381.3(MID1):c.588C>G (p.Ala196=) http://identifiers.org/clinvar/195071 ^@ NM_000399.4(EGR2):c.442C>T (p.Pro148Ser) http://identifiers.org/clinvar/195072 ^@ NM_000399.4(EGR2):c.679C>T (p.Pro227Ser) http://identifiers.org/clinvar/195073 ^@ NM_000404.3(GLB1):c.169delT (p.Tyr57Thrfs) http://identifiers.org/clinvar/195074 ^@ NM_000404.3(GLB1):c.203G>A (p.Arg68Gln) http://identifiers.org/clinvar/195075 ^@ NM_000445.4(PLEC):c.164C>A (p.Pro55Gln) http://identifiers.org/clinvar/195076 ^@ NM_000466.2(PEX1):c.130-9T>C http://identifiers.org/clinvar/195078 ^@ NM_000493.3(COL10A1):c.23T>G (p.Leu8Trp) http://identifiers.org/clinvar/195079 ^@ NM_000515.4(GH1):c.150C>A (p.Ala50=) http://identifiers.org/clinvar/195080 ^@ NM_000515.4(GH1):c.152T>A (p.Phe51Tyr) http://identifiers.org/clinvar/195081 ^@ NM_000520.5(HEXA):c.298G>T (p.Val100Phe) http://identifiers.org/clinvar/195082 ^@ NM_000521.3(HEXB):c.311A>G (p.Tyr104Cys) http://identifiers.org/clinvar/195083 ^@ NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) http://identifiers.org/clinvar/195084 ^@ NM_000543.4(SMPD1):c.772A>C (p.Thr258Pro) http://identifiers.org/clinvar/195085 ^@ NM_000543.4(SMPD1):c.872G>A (p.Arg291His) http://identifiers.org/clinvar/195086 ^@ NM_000543.4(SMPD1):c.785_807del23 (p.Leu262Argfs) http://identifiers.org/clinvar/195087 ^@ NM_000543.4(SMPD1):c.559C>T (p.Pro187Ser) http://identifiers.org/clinvar/195089 ^@ NM_000543.4(SMPD1):c.558_559insT (p.Pro187Serfs) http://identifiers.org/clinvar/195090 ^@ NM_000543.4(SMPD1):c.753G>A (p.Lys251=) http://identifiers.org/clinvar/195091 ^@ NM_000543.4(SMPD1):c.887G>A (p.Arg296Gln) http://identifiers.org/clinvar/195092 ^@ NM_000550.2(TYRP1):c.278G>A (p.Arg93His) http://identifiers.org/clinvar/195093 ^@ NM_000551.3(VHL):c.449delA (p.Asn150Ilefs) http://identifiers.org/clinvar/195094 ^@ NM_000557.4(GDF5):c.1334A>G (p.Asn445Ser) http://identifiers.org/clinvar/195095 ^@ NM_001111283.2(IGF1):c.207G>A (p.Arg69=) http://identifiers.org/clinvar/195096 ^@ NM_000642.2(AGL):c.-10A>G http://identifiers.org/clinvar/195097 ^@ NM_000642.2(AGL):c.18_19delGA (p.Gln6Hisfs) http://identifiers.org/clinvar/195098 ^@ NM_000719.6(CACNA1C):c.50-3C>T http://identifiers.org/clinvar/195099 ^@ NM_000742.3(CHRNA2):c.24C>T (p.Phe8=) http://identifiers.org/clinvar/195100 ^@ NM_000751.2(CHRND):c.117C>G (p.Asn39Lys) http://identifiers.org/clinvar/195101 ^@ NM_000875.4(IGF1R):c.568C>T (p.Pro190Ser) http://identifiers.org/clinvar/195102 ^@ NM_001004127.2(ALG11):c.137T>C (p.Leu46Pro) http://identifiers.org/clinvar/195103 ^@ NM_001005360.2(DNM2):c.162-7C>A http://identifiers.org/clinvar/195104 ^@ NM_001005360.2(DNM2):c.216G>A (p.Gln72=) http://identifiers.org/clinvar/195105 ^@ NM_002921.3(RGR):c.235_236delCGinsAT (p.Arg79Ile) http://identifiers.org/clinvar/195106 ^@ NM_001029883.2(C2orf71):c.3813C>T (p.His1271=) http://identifiers.org/clinvar/195107 ^@ NM_001029883.2(C2orf71):c.3739G>A (p.Gly1247Ser) http://identifiers.org/clinvar/195108 ^@ NM_001038.5(SCNN1A):c.216C>T (p.Ile72=) http://identifiers.org/clinvar/195109 ^@ NM_001038603.2(MARVELD2):c.30G>A (p.Arg10=) http://identifiers.org/clinvar/195110 ^@ NM_001083961.1(WDR62):c.189G>T (p.Glu63Asp) http://identifiers.org/clinvar/195111 ^@ NM_001101.3(ACTB):c.-6-4G>T http://identifiers.org/clinvar/195112 ^@ NM_001111.4(ADAR):c.1151A>G (p.Lys384Arg) http://identifiers.org/clinvar/195113 ^@ NM_001127464.2(ZNF469):c.10891G>A (p.Gly3631Arg) http://identifiers.org/clinvar/195114 ^@ NM_001127464.2(ZNF469):c.10906G= (p.Ala3636=) http://identifiers.org/clinvar/195115 ^@ NM_001127464.2(ZNF469):c.9184C>T (p.Arg3062Ter) http://identifiers.org/clinvar/195116 ^@ NM_001127464.2(ZNF469):c.10711G>T (p.Ala3571Ser) http://identifiers.org/clinvar/195117 ^@ NM_001127464.2(ZNF469):c.4338G>A (p.Ala1446=) http://identifiers.org/clinvar/195118 ^@ NM_001127464.2(ZNF469):c.10242G>C (p.Arg3414Ser) http://identifiers.org/clinvar/195119 ^@ NM_001127464.2(ZNF469):c.4868A>G (p.Gln1623Arg) http://identifiers.org/clinvar/195120 ^@ NM_001127464.2(ZNF469):c.8341C>G (p.Pro2781Ala) http://identifiers.org/clinvar/195121 ^@ NM_001127464.2(ZNF469):c.10599C>T (p.Ala3533=) http://identifiers.org/clinvar/195122 ^@ NM_001127464.2(ZNF469):c.7897G>A (p.Gly2633Ser) http://identifiers.org/clinvar/195123 ^@ NM_001127464.2(ZNF469):c.8405G>C (p.Gly2802Ala) http://identifiers.org/clinvar/195124 ^@ NM_001127464.2(ZNF469):c.7992G>A (p.Pro2664=) http://identifiers.org/clinvar/195125 ^@ NM_001127464.2(ZNF469):c.8543A>G (p.His2848Arg) http://identifiers.org/clinvar/195126 ^@ NM_001127464.2(ZNF469):c.4337C>T (p.Ala1446Val) http://identifiers.org/clinvar/195127 ^@ NM_001130438.2(SPTAN1):c.131A>G (p.Tyr44Cys) http://identifiers.org/clinvar/195128 ^@ NM_001135659.2(NRXN1):c.24C>T (p.Arg8=) http://identifiers.org/clinvar/195129 ^@ NM_001135659.2(NRXN1):c.518C>G (p.Ser173Trp) http://identifiers.org/clinvar/195130 ^@ NM_001135659.2(NRXN1):c.270G>T (p.Gln90His) http://identifiers.org/clinvar/195131 ^@ NM_001165963.1(SCN1A):c.379C>G (p.His127Asp) http://identifiers.org/clinvar/195132 ^@ NM_001182.4(ALDH7A1):c.235A>G (p.Arg79Gly) http://identifiers.org/clinvar/195133 ^@ NM_020705.2(TBC1D24):c.-4C>T http://identifiers.org/clinvar/195134 ^@ NM_020705.2(TBC1D24):c.22T>C (p.Cys8Arg) http://identifiers.org/clinvar/195135 ^@ NM_001199107.1(TBC1D24):c.785C>T (p.Ser262Leu) http://identifiers.org/clinvar/195136 ^@ NM_001200.3(BMP2):c.261A>G (p.Ser87=) http://identifiers.org/clinvar/195137 ^@ NM_001200.3(BMP2):c.109T>G (p.Ser37Ala) http://identifiers.org/clinvar/195138 ^@ NM_001204.6(BMPR2):c.136A>G (p.Ile46Val) http://identifiers.org/clinvar/195139 ^@ NM_001235.3(SERPINH1):c.579_580delGCinsCA (p.Glu193_Arg194delinsAspSer) http://identifiers.org/clinvar/195140 ^@ NM_001235.3(SERPINH1):c.363C>G (p.Ser121=) http://identifiers.org/clinvar/195141 ^@ NM_001235.3(SERPINH1):c.234A>G (p.Leu78=) http://identifiers.org/clinvar/195142 ^@ NM_001235.3(SERPINH1):c.579G>C (p.Glu193Asp) http://identifiers.org/clinvar/195143 ^@ NM_001235.3(SERPINH1):c.580C>A (p.Arg194Ser) http://identifiers.org/clinvar/195144 ^@ NM_001297.4(CNGB1):c.49C>T (p.Arg17Trp) http://identifiers.org/clinvar/195145 ^@ NM_001458.4(FLNC):c.597C>T (p.Ala199=) http://identifiers.org/clinvar/195146 ^@ NM_001701.3(BAAT):c.-6A>T http://identifiers.org/clinvar/195147 ^@ NM_001701.3(BAAT):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/195148 ^@ NM_001844.4(COL2A1):c.258C>A (p.Cys86Ter) http://identifiers.org/clinvar/195149 ^@ NM_001844.4(COL2A1):c.213C>T (p.Asp71=) http://identifiers.org/clinvar/195150 ^@ NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) http://identifiers.org/clinvar/195151 ^@ NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) http://identifiers.org/clinvar/195152 ^@ NM_001849.3(COL6A2):c.22G>A (p.Val8Met) http://identifiers.org/clinvar/195153 ^@ NM_001852.3(COL9A2):c.95G>A (p.Arg32Gln) http://identifiers.org/clinvar/195154 ^@ NM_001853.3(COL9A3):c.93C>A (p.Pro31=) http://identifiers.org/clinvar/195155 ^@ NM_001853.3(COL9A3):c.129C>T (p.Pro43=) http://identifiers.org/clinvar/195156 ^@ NM_001909.4(CTSD):c.75G>A (p.Pro25=) http://identifiers.org/clinvar/195157 ^@ NM_001918.3(DBT):c.126T>G (p.Tyr42Ter) http://identifiers.org/clinvar/195158 ^@ NM_001918.3(DBT):c.137A>G (p.Lys46Arg) http://identifiers.org/clinvar/195159 ^@ NM_002098.5(GUCA1B):c.297G>A (p.Lys99=) http://identifiers.org/clinvar/195160 ^@ NM_002103.4(GYS1):c.201G>A (p.Pro67=) http://identifiers.org/clinvar/195161 ^@ NM_002180.2(IGHMBP2):c.229G>C (p.Ala77Pro) http://identifiers.org/clinvar/195162 ^@ NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) http://identifiers.org/clinvar/195163 ^@ NM_002241.4(KCNJ10):c.124G>A (p.Glu42Lys) http://identifiers.org/clinvar/195164 ^@ NM_002241.4(KCNJ10):c.394G>A (p.Gly132Ser) http://identifiers.org/clinvar/195165 ^@ NM_002241.4(KCNJ10):c.530A>G (p.Glu177Gly) http://identifiers.org/clinvar/195166 ^@ NM_002335.3(LRP5):c.266A>G (p.Gln89Arg) http://identifiers.org/clinvar/195167 ^@ NM_002335.3(LRP5):c.263A>G (p.Lys88Arg) http://identifiers.org/clinvar/195168 ^@ NM_002335.3(LRP5):c.295G>A (p.Val99Met) http://identifiers.org/clinvar/195169 ^@ NM_002381.4(MATN3):c.447C>T (p.Ala149=) http://identifiers.org/clinvar/195170 ^@ NM_002381.4(MATN3):c.615G>A (p.Glu205=) http://identifiers.org/clinvar/195171 ^@ NM_002381.4(MATN3):c.518C>A (p.Ala173Asp) http://identifiers.org/clinvar/195172 ^@ NM_002437.4(MPV17):c.27G>T (p.Arg9=) http://identifiers.org/clinvar/195173 ^@ NM_002546.3(TNFRSF11B):c.148C>A (p.Leu50Ile) http://identifiers.org/clinvar/195174 ^@ NM_002618.3(PEX13):c.229T>A (p.Ser77Thr) http://identifiers.org/clinvar/195175 ^@ NM_002693.2(POLG):c.584T>C (p.Leu195Pro) http://identifiers.org/clinvar/195176 ^@ NM_002693.2(POLG):c.114G>T (p.Gly38=) http://identifiers.org/clinvar/195177 ^@ NM_002693.2(POLG):c.131A>G (p.Gln44Arg) http://identifiers.org/clinvar/195178 ^@ NM_002693.2(POLG):c.603C>T (p.Val201=) http://identifiers.org/clinvar/195179 ^@ NM_002693.2(POLG):c.134A>G (p.Gln45Arg) http://identifiers.org/clinvar/195182 ^@ NM_002693.2(POLG):c.32G>A (p.Gly11Asp) http://identifiers.org/clinvar/195183 ^@ NM_002768.4(CHMP1A):c.27+10G>A http://identifiers.org/clinvar/195184 ^@ NM_002900.2(RBP3):c.3062C>A (p.Ser1021Tyr) http://identifiers.org/clinvar/195185 ^@ NM_002951.4(RPN2):c.196C>T (p.Pro66Ser) http://identifiers.org/clinvar/195186 ^@ NM_002968.2(SALL1):c.2549G>C (p.Ser850Thr) http://identifiers.org/clinvar/195187 ^@ NM_002968.2(SALL1):c.475_477delAGC (p.Ser159del) http://identifiers.org/clinvar/195188 ^@ NM_002968.2(SALL1):c.1144A>G (p.Ser382Gly) http://identifiers.org/clinvar/195189 ^@ NM_002968.2(SALL1):c.2283G>C (p.Pro761=) http://identifiers.org/clinvar/195190 ^@ NM_002968.2(SALL1):c.3120A>G (p.Thr1040=) http://identifiers.org/clinvar/195193 ^@ NM_003030.4(SHOX2):c.387G>A (p.Leu129=) http://identifiers.org/clinvar/195194 ^@ NM_003119.3(SPG7):c.234G>T (p.Leu78Phe) http://identifiers.org/clinvar/195195 ^@ NM_003413.3(ZIC3):c.1194G>T (p.Thr398=) http://identifiers.org/clinvar/195196 ^@ NM_003413.3(ZIC3):c.1179C>T (p.Cys393=) http://identifiers.org/clinvar/195197 ^@ NM_003630.2(PEX3):c.165A>G (p.Gln55=) http://identifiers.org/clinvar/195198 ^@ NM_003673.3(TCAP):c.270G>A (p.Pro90=) http://identifiers.org/clinvar/195199 ^@ NM_003673.3(TCAP):c.389G>A (p.Arg130His) http://identifiers.org/clinvar/195200 ^@ NM_003688.3(CASK):c.79C>T (p.Arg27Ter) http://identifiers.org/clinvar/195201 ^@ NM_003688.3(CASK):c.159G>T (p.Gly53=) http://identifiers.org/clinvar/195202 ^@ NM_003701.3(TNFSF11):c.387+14G>A http://identifiers.org/clinvar/195203 ^@ NM_003907.2(EIF2B5):c.318A>T (p.Leu106Phe) http://identifiers.org/clinvar/195204 ^@ NM_004004.5(GJB2):c.380G>T (p.Arg127Leu) http://identifiers.org/clinvar/195205 ^@ NM_004004.5(GJB2):c.465T>A (p.Tyr155Ter) http://identifiers.org/clinvar/195206 ^@ NM_004004.5(GJB2):c.120A>C (p.Ala40=) http://identifiers.org/clinvar/195207 ^@ NM_004004.5(GJB2):c.582C>T (p.Phe194=) http://identifiers.org/clinvar/195210 ^@ NM_004006.2(DMD):c.78T>G (p.Asn26Lys) http://identifiers.org/clinvar/195211 ^@ NM_004172.4(SLC1A3):c.28A>G (p.Lys10Glu) http://identifiers.org/clinvar/195212 ^@ NM_004281.3(BAG3):c.487C>T (p.Pro163Ser) http://identifiers.org/clinvar/195214 ^@ NM_004287.4(GOSR2):c.57G>A (p.Met19Ile) http://identifiers.org/clinvar/195215 ^@ NM_004380.2(CREBBP):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/195216 ^@ NM_004380.2(CREBBP):c.711C>T (p.Ser237=) http://identifiers.org/clinvar/195217 ^@ NM_004380.2(CREBBP):c.586A>G (p.Ser196Gly) http://identifiers.org/clinvar/195218 ^@ NM_004380.2(CREBBP):c.712G>C (p.Val238Leu) http://identifiers.org/clinvar/195219 ^@ NM_004387.3(NKX2-5):c.686_687insCC (p.Cys230Hisfs) http://identifiers.org/clinvar/195220 ^@ NM_004393.5(DAG1):c.258G>C (p.Leu86Phe) http://identifiers.org/clinvar/195221 ^@ NM_001165928.3(DAG1):c.183T>C (p.Val61=) http://identifiers.org/clinvar/195222 ^@ NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs) http://identifiers.org/clinvar/195223 ^@ NM_004463.2(FGD1):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/195224 ^@ NM_004463.2(FGD1):c.373C>A (p.Pro125Thr) http://identifiers.org/clinvar/195225 ^@ NM_004482.3(GALNT3):c.132A>G (p.Gln44=) http://identifiers.org/clinvar/195226 ^@ NM_001037811.2(HSD17B10):c.147C>G (p.Ala49=) http://identifiers.org/clinvar/195227 ^@ NM_004530.5(MMP2):c.265delC (p.Asp90Thrfs) http://identifiers.org/clinvar/195228 ^@ NM_004727.2(SLC24A1):c.931G>C (p.Val311Leu) http://identifiers.org/clinvar/195229 ^@ NM_004727.2(SLC24A1):c.803T>C (p.Val268Ala) http://identifiers.org/clinvar/195230 ^@ NM_004727.2(SLC24A1):c.886T>C (p.Trp296Arg) http://identifiers.org/clinvar/195231 ^@ NM_004744.4(LRAT):c.398A>C (p.Lys133Thr) http://identifiers.org/clinvar/195232 ^@ NM_004820.4(CYP7B1):c.123-9delT http://identifiers.org/clinvar/195233 ^@ NM_004977.2(KCNC3):c.1429G>A (p.Asp477Asn) http://identifiers.org/clinvar/195234 ^@ NM_004985.4(KRAS):c.93A>G (p.Glu31=) http://identifiers.org/clinvar/195235 ^@ NM_004985.4(KRAS):c.76A>T (p.Asn26Tyr) http://identifiers.org/clinvar/195236 ^@ NM_004994.2(MMP9):c.175G>C (p.Glu59Gln) http://identifiers.org/clinvar/195237 ^@ NM_005183.3(CACNA1F):c.244C>T (p.Arg82Ter) http://identifiers.org/clinvar/195238 ^@ NM_005183.3(CACNA1F):c.272G>T (p.Trp91Leu) http://identifiers.org/clinvar/195239 ^@ NM_005199.4(CHRNG):c.117dupC (p.Asn40Glnfs) http://identifiers.org/clinvar/195240 ^@ NM_005270.4(GLI2):c.221A>G (p.His74Arg) http://identifiers.org/clinvar/195241 ^@ NM_005272.3(GNAT2):c.147C>T (p.Ile49=) http://identifiers.org/clinvar/195242 ^@ NM_001122608.2(HCCS):c.95T>C (p.Met32Thr) http://identifiers.org/clinvar/195243 ^@ NM_005378.5(MYCN):c.207G>A (p.Glu69=) http://identifiers.org/clinvar/195244 ^@ NM_001128227.2(GNE):c.79C>T (p.Arg27Ter) http://identifiers.org/clinvar/195245 ^@ NM_005506.3(SCARB2):c.246G>C (p.Arg82=) http://identifiers.org/clinvar/195246 ^@ NM_005562.2(LAMC2):c.196G>A (p.Glu66Lys) http://identifiers.org/clinvar/195247 ^@ NM_005603.4(ATP8B1):c.150A>G (p.Glu50=) http://identifiers.org/clinvar/195248 ^@ NM_005677.3(COLQ):c.133C>T (p.Arg45Cys) http://identifiers.org/clinvar/195249 ^@ NM_005765.2(ATP6AP2):c.158C>T (p.Ser53Phe) http://identifiers.org/clinvar/195250 ^@ NM_005802.4(TOPORS):c.74C>G (p.Ser25Trp) http://identifiers.org/clinvar/195251 ^@ NM_005802.4(TOPORS):c.58C>T (p.Pro20Ser) http://identifiers.org/clinvar/195252 ^@ NM_005802.4(TOPORS):c.67C>T (p.Pro23Ser) http://identifiers.org/clinvar/195253 ^@ NM_005802.4(TOPORS):c.198+6_198+9delTGAG http://identifiers.org/clinvar/195254 ^@ NM_005881.3(BCKDK):c.47C>T (p.Pro16Leu) http://identifiers.org/clinvar/195255 ^@ NM_005957.4(MTHFR):c.151C>T (p.Arg51Trp) http://identifiers.org/clinvar/195256 ^@ NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) http://identifiers.org/clinvar/195257 ^@ NM_006019.3(TCIRG1):c.60G>A (p.Ala20=) http://identifiers.org/clinvar/195258 ^@ NM_006177.3(NRL):c.151C>T (p.Pro51Ser) http://identifiers.org/clinvar/195259 ^@ NM_006208.2(ENPP1):c.313+8delG http://identifiers.org/clinvar/195260 ^@ NM_006208.2(ENPP1):c.313+10delT http://identifiers.org/clinvar/195261 ^@ NM_006269.1(RP1):c.515T>G (p.Leu172Arg) http://identifiers.org/clinvar/195262 ^@ NM_006269.1(RP1):c.205A>T (p.Asn69Tyr) http://identifiers.org/clinvar/195263 ^@ NM_174968.3(ST3GAL3):c.118+10G>C http://identifiers.org/clinvar/195264 ^@ NM_006343.2(MERTK):c.275C>T (p.Pro92Leu) http://identifiers.org/clinvar/195265 ^@ NM_006371.4(CRTAP):c.534C>T (p.Asp178=) http://identifiers.org/clinvar/195266 ^@ NM_006371.4(CRTAP):c.558A>G (p.Ala186=) http://identifiers.org/clinvar/195267 ^@ NM_006516.2(SLC2A1):c.80G>A (p.Gly27Asp) http://identifiers.org/clinvar/195268 ^@ NM_006657.2(FTCD):c.236A>C (p.Gln79Pro) http://identifiers.org/clinvar/195269 ^@ NM_006744.3(RBP4):c.17C>T (p.Ala6Val) http://identifiers.org/clinvar/195270 ^@ NM_006915.2(RP2):c.260C>T (p.Thr87Ile) http://identifiers.org/clinvar/195271 ^@ NM_006946.2(SPTBN2):c.157+5G>A http://identifiers.org/clinvar/195272 ^@ NM_007171.3(POMT1):c.42C>T (p.Asp14=) http://identifiers.org/clinvar/195275 ^@ NM_012179.3(FBXO7):c.345G>A (p.Met115Ile) http://identifiers.org/clinvar/195276 ^@ NM_012188.4(FOXI1):c.726C>T (p.Ser242=) http://identifiers.org/clinvar/195277 ^@ NM_012193.3(FZD4):c.729C>T (p.Ile243=) http://identifiers.org/clinvar/195278 ^@ NM_012193.3(FZD4):c.1025T>C (p.Met342Thr) http://identifiers.org/clinvar/195279 ^@ NM_012210.3(TRIM32):c.938C>T (p.Ala313Val) http://identifiers.org/clinvar/195280 ^@ NM_012210.3(TRIM32):c.558G>C (p.Gln186His) http://identifiers.org/clinvar/195281 ^@ NM_012210.3(TRIM32):c.480G>A (p.Met160Ile) http://identifiers.org/clinvar/195282 ^@ NM_012210.3(TRIM32):c.1954A>G (p.Thr652Ala) http://identifiers.org/clinvar/195283 ^@ NM_012210.3(TRIM32):c.633T>C (p.Ala211=) http://identifiers.org/clinvar/195284 ^@ NM_012210.3(TRIM32):c.1134C>T (p.Tyr378=) http://identifiers.org/clinvar/195285 ^@ NM_012210.3(TRIM32):c.1780A>G (p.Ser594Gly) http://identifiers.org/clinvar/195286 ^@ NM_001199397.1(NEK1):c.117+1G>A http://identifiers.org/clinvar/195287 ^@ NM_012232.5(CAVIN1):c.*10G>A http://identifiers.org/clinvar/195288 ^@ NM_012254.2(SLC27A5):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/195289 ^@ NM_012469.3(PRPF6):c.171G>C (p.Gly57=) http://identifiers.org/clinvar/195290 ^@ NM_013372.6(GREM1):c.417G>A (p.Gln139=) http://identifiers.org/clinvar/195291 ^@ NM_014028.3(OSTM1):c.415_416delAG (p.Gln140Glufs) http://identifiers.org/clinvar/195292 ^@ NM_014141.5(CNTNAP2):c.136G>A (p.Val46Met) http://identifiers.org/clinvar/195293 ^@ NM_014191.3(SCN8A):c.270G>T (p.Thr90=) http://identifiers.org/clinvar/195294 ^@ NM_014251.2(SLC25A13):c.51T>C (p.Leu17=) http://identifiers.org/clinvar/195295 ^@ NM_014254.2(TMEM5):c.252C>T (p.Ser84=) http://identifiers.org/clinvar/195296 ^@ NM_014491.3(FOXP2):c.50A>T (p.Gln17Leu) http://identifiers.org/clinvar/195297 ^@ NM_014728.3(FRMPD4):c.42-10dupT http://identifiers.org/clinvar/195298 ^@ NM_014780.4(CUL7):c.79C>T (p.Arg27Cys) http://identifiers.org/clinvar/195299 ^@ NM_014780.4(CUL7):c.465A>T (p.Gly155=) http://identifiers.org/clinvar/195300 ^@ NM_014780.4(CUL7):c.136C>T (p.Arg46Trp) http://identifiers.org/clinvar/195301 ^@ NM_014780.4(CUL7):c.25G>C (p.Glu9Gln) http://identifiers.org/clinvar/195302 ^@ NM_014780.4(CUL7):c.533G>T (p.Arg178Leu) http://identifiers.org/clinvar/195303 ^@ NM_014927.4(CNKSR2):c.192A>G (p.Glu64=) http://identifiers.org/clinvar/195304 ^@ NM_014929.3(FASTKD2):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/195305 ^@ NM_015102.4(NPHP4):c.39T>G (p.Leu13=) http://identifiers.org/clinvar/195306 ^@ NM_015311.2(OBSL1):c.1273dupA (p.Thr425Asnfs) http://identifiers.org/clinvar/195308 ^@ NM_015560.2(OPA1):c.33-8T>C http://identifiers.org/clinvar/195309 ^@ NM_015560.2(OPA1):c.292_301delTTAAAACTTC (p.Leu98Alafs) http://identifiers.org/clinvar/195310 ^@ NM_015629.3(PRPF31):c.138T>C (p.Asp46=) http://identifiers.org/clinvar/195311 ^@ NM_016239.3(MYO15A):c.823G>C (p.Gly275Arg) http://identifiers.org/clinvar/195312 ^@ NM_016239.3(MYO15A):c.2418C>T (p.Phe806=) http://identifiers.org/clinvar/195313 ^@ NM_016239.3(MYO15A):c.1454T>C (p.Val485Ala) http://identifiers.org/clinvar/195314 ^@ NM_016239.3(MYO15A):c.2225G>T (p.Arg742Leu) http://identifiers.org/clinvar/195315 ^@ NM_016239.3(MYO15A):c.1783G>A (p.Ala595Thr) http://identifiers.org/clinvar/195316 ^@ NM_016725.2(FOLR1):c.157T>C (p.Leu53=) http://identifiers.org/clinvar/195317 ^@ NM_017653.3(DYM):c.122delT (p.Phe41Serfs) http://identifiers.org/clinvar/195318 ^@ NM_001243766.1(POMGNT1):c.87G>A (p.Leu29=) http://identifiers.org/clinvar/195320 ^@ NM_001123383.1(BCOR):c.86+9G>A http://identifiers.org/clinvar/195321 ^@ NM_017780.3(CHD7):c.469C>T (p.Arg157Ter) http://identifiers.org/clinvar/195322 ^@ NM_017780.3(CHD7):c.90G>A (p.Pro30=) http://identifiers.org/clinvar/195323 ^@ NM_017780.3(CHD7):c.240G>A (p.Met80Ile) http://identifiers.org/clinvar/195324 ^@ NM_017780.3(CHD7):c.272G>A (p.Ser91Asn) http://identifiers.org/clinvar/195325 ^@ NM_017780.3(CHD7):c.1046A>G (p.Asn349Ser) http://identifiers.org/clinvar/195326 ^@ NM_017780.3(CHD7):c.712G>A (p.Val238Met) http://identifiers.org/clinvar/195327 ^@ NM_017780.3(CHD7):c.360C>T (p.Gly120=) http://identifiers.org/clinvar/195328 ^@ NM_017780.3(CHD7):c.1170T>C (p.Tyr390=) http://identifiers.org/clinvar/195329 ^@ NM_017780.3(CHD7):c.1224_1234delTCCTCCTCCAC (p.Pro409Serfs) http://identifiers.org/clinvar/195330 ^@ NM_017780.3(CHD7):c.1536A>G (p.Pro512=) http://identifiers.org/clinvar/195331 ^@ NM_017780.3(CHD7):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/195332 ^@ NM_017780.3(CHD7):c.656G>A (p.Gly219Asp) http://identifiers.org/clinvar/195333 ^@ NM_017780.3(CHD7):c.323C>A (p.Pro108His) http://identifiers.org/clinvar/195334 ^@ NM_017780.3(CHD7):c.1465C>T (p.Gln489Ter) http://identifiers.org/clinvar/195335 ^@ NM_017780.3(CHD7):c.1644G>A (p.Pro548=) http://identifiers.org/clinvar/195336 ^@ NM_017890.4(VPS13B):c.56A>G (p.Lys19Arg) http://identifiers.org/clinvar/195337 ^@ NM_017929.5(PEX26):c.130C>T (p.Leu44Phe) http://identifiers.org/clinvar/195338 ^@ NM_018139.2(DNAAF2):c.1953A>G (p.Pro651=) http://identifiers.org/clinvar/195339 ^@ NM_018297.3(NGLY1):c.132-14T>C http://identifiers.org/clinvar/195340 ^@ NM_018451.4(CENPJ):c.236A>G (p.Lys79Arg) http://identifiers.org/clinvar/195341 ^@ NM_018668.4(VPS33B):c.133C>A (p.Leu45Ile) http://identifiers.org/clinvar/195342 ^@ NM_018668.4(VPS33B):c.136A>T (p.Met46Leu) http://identifiers.org/clinvar/195343 ^@ NM_018699.3(PRDM5):c.106G>A (p.Gly36Arg) http://identifiers.org/clinvar/195344 ^@ NM_018941.3(CLN8):c.385C>T (p.Arg129Trp) http://identifiers.org/clinvar/195345 ^@ NM_018941.3(CLN8):c.200C>T (p.Ala67Val) http://identifiers.org/clinvar/195346 ^@ NM_018941.3(CLN8):c.94T>G (p.Phe32Val) http://identifiers.org/clinvar/195347 ^@ NM_018941.3(CLN8):c.527C>T (p.Ser176Phe) http://identifiers.org/clinvar/195348 ^@ NM_018941.3(CLN8):c.11C>T (p.Ala4Val) http://identifiers.org/clinvar/195349 ^@ NM_018943.2(TUBA8):c.40G>T (p.Val14Phe) http://identifiers.org/clinvar/195350 ^@ NM_018965.3(TREM2):c.140G>A (p.Arg47His) http://identifiers.org/clinvar/195351 ^@ NM_018977.3(NLGN3):c.20C>T (p.Pro7Leu) http://identifiers.org/clinvar/195352 ^@ NM_019109.4(ALG1):c.262T>G (p.Leu88Val) http://identifiers.org/clinvar/195353 ^@ NM_020223.3(FAM20C):c.646G>A (p.Gly216Arg) http://identifiers.org/clinvar/195354 ^@ NM_020320.4(RARS2):c.78A>C (p.Thr26=) http://identifiers.org/clinvar/195355 ^@ NM_020366.3(RPGRIP1):c.154C>T (p.Arg52Ter) http://identifiers.org/clinvar/195356 ^@ NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) http://identifiers.org/clinvar/195357 ^@ NM_020436.4(SALL4):c.2290T>C (p.Ser764Pro) http://identifiers.org/clinvar/195358 ^@ NM_020436.4(SALL4):c.2376T>C (p.Asn792=) http://identifiers.org/clinvar/195359 ^@ NM_020436.4(SALL4):c.1353C>T (p.Ala451=) http://identifiers.org/clinvar/195360 ^@ NM_020436.4(SALL4):c.1779G>T (p.Pro593=) http://identifiers.org/clinvar/195361 ^@ NM_020436.4(SALL4):c.1497G>T (p.Thr499=) http://identifiers.org/clinvar/195362 ^@ NM_020436.4(SALL4):c.2215G>T (p.Ala739Ser) http://identifiers.org/clinvar/195363 ^@ NM_020451.2(SELENON):c.253A>G (p.Met85Val) http://identifiers.org/clinvar/195364 ^@ NM_001199107.1(TBC1D24):c.169C>T (p.Arg57Cys) http://identifiers.org/clinvar/195365 ^@ NM_181332.2(NLGN4X):c.250G>A (p.Gly84Arg) http://identifiers.org/clinvar/195366 ^@ NM_020822.2(KCNT1):c.254+10G>C http://identifiers.org/clinvar/195367 ^@ NM_021101.4(CLDN1):c.369T>C (p.Gly123=) http://identifiers.org/clinvar/195368 ^@ NM_021625.4(TRPV4):c.33G>T (p.Gly11=) http://identifiers.org/clinvar/195369 ^@ NM_021914.7(CFL2):c.21G>A (p.Val7=) http://identifiers.org/clinvar/195370 ^@ NM_021939.3(FKBP10):c.246-5C>G http://identifiers.org/clinvar/195371 ^@ NM_022367.3(SEMA4A):c.84G>A (p.Thr28=) http://identifiers.org/clinvar/195372 ^@ NM_001037633.1(SIL1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/195373 ^@ NM_001037633.1(SIL1):c.103C>G (p.Leu35Val) http://identifiers.org/clinvar/195374 ^@ NM_022567.2(NYX):c.1217C>G (p.Ala406Gly) http://identifiers.org/clinvar/195375 ^@ NM_022787.3(NMNAT1):c.37G>A (p.Ala13Thr) http://identifiers.org/clinvar/195376 ^@ NM_024312.4(GNPTAB):c.157_160delTTTG (p.Phe53Ilefs) http://identifiers.org/clinvar/195377 ^@ NM_024529.4(CDC73):c.237+1G>T http://identifiers.org/clinvar/195378 ^@ NM_024685.3(BBS10):c.2144A>G (p.His715Arg) http://identifiers.org/clinvar/195379 ^@ NM_024685.3(BBS10):c.1838A>G (p.Tyr613Cys) http://identifiers.org/clinvar/195380 ^@ NM_024757.4(EHMT1):c.70G>A (p.Glu24Lys) http://identifiers.org/clinvar/195381 ^@ NM_024757.4(EHMT1):c.35G>C (p.Arg12Thr) http://identifiers.org/clinvar/195382 ^@ NM_025193.3(HSD3B7):c.103C>G (p.Arg35Gly) http://identifiers.org/clinvar/195383 ^@ NM_030777.3(SLC2A10):c.515C>T (p.Thr172Ile) http://identifiers.org/clinvar/195384 ^@ NM_030973.3(MED25):c.165G>A (p.Thr55=) http://identifiers.org/clinvar/195385 ^@ NM_030973.3(MED25):c.135-6T>G http://identifiers.org/clinvar/195386 ^@ NM_031427.3(DNAL1):c.4-15T>C http://identifiers.org/clinvar/195387 ^@ NM_178443.2(FERMT3):c.159C>G (p.Ile53Met) http://identifiers.org/clinvar/195388 ^@ NM_178443.2(FERMT3):c.130G>A (p.Gly44Arg) http://identifiers.org/clinvar/195389 ^@ NM_032575.2(GLIS2):c.239A>T (p.Asp80Val) http://identifiers.org/clinvar/195390 ^@ NM_032578.3(MYPN):c.729T>G (p.Ser243Arg) http://identifiers.org/clinvar/195391 ^@ NM_032601.3(MCEE):c.102C>G (p.Pro34=) http://identifiers.org/clinvar/195392 ^@ NM_032753.3(RAX2):c.45T>G (p.Gly15=) http://identifiers.org/clinvar/195393 ^@ NM_032753.3(RAX2):c.91C>T (p.Arg31Cys) http://identifiers.org/clinvar/195394 ^@ NM_033071.3(SYNE1):c.23C>T (p.Ser8Phe) http://identifiers.org/clinvar/195395 ^@ NM_033337.2(CAV3):c.312G>A (p.Val104=) http://identifiers.org/clinvar/195396 ^@ NM_052859.3(RFT1):c.136G>A (p.Val46Ile) http://identifiers.org/clinvar/195397 ^@ NM_130838.1(UBE3A):c.3-14_3-7delAATGTTTG http://identifiers.org/clinvar/195398 ^@ NM_138793.3(CANT1):c.159T>C (p.Ala53=) http://identifiers.org/clinvar/195399 ^@ NM_001159772.1(CANT1):c.278delT (p.Leu93Argfs) http://identifiers.org/clinvar/195400 ^@ NM_139058.2(ARX):c.324_335delGGCGGCGGCGGC (p.Ala112_Ala115del) http://identifiers.org/clinvar/195401 ^@ NM_139058.2(ARX):c.335_336insGGCGGCGGC (p.Ala115_Thr116insAlaAlaAla) http://identifiers.org/clinvar/195403 ^@ NM_139058.2(ARX):c.336A>G (p.Ala112=) http://identifiers.org/clinvar/195405 ^@ NM_139058.2(ARX):c.540G>T (p.Ala180=) http://identifiers.org/clinvar/195407 ^@ NM_145239.2(PRRT2):c.224C>T (p.Pro75Leu) http://identifiers.org/clinvar/195410 ^@ NM_145239.2(PRRT2):c.582G>C (p.Glu194Asp) http://identifiers.org/clinvar/195411 ^@ NM_001128225.2(SLC39A13):c.222T>A (p.Gly74=) http://identifiers.org/clinvar/195412 ^@ NM_001178007.1(BBS12):c.979T>A (p.Ser327Thr) http://identifiers.org/clinvar/195413 ^@ NM_001178007.1(BBS12):c.978T>A (p.Thr326=) http://identifiers.org/clinvar/195414 ^@ NM_001178007.1(BBS12):c.2021G>A (p.Arg674His) http://identifiers.org/clinvar/195415 ^@ NM_001178007.1(BBS12):c.1704G>A (p.Trp568Ter) http://identifiers.org/clinvar/195416 ^@ NM_152618.2(BBS12):c.1286G>C (p.Ser429Thr) http://identifiers.org/clinvar/195417 ^@ NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) http://identifiers.org/clinvar/195418 ^@ NM_153212.2(GJB4):c.495C>T (p.Ser165=) http://identifiers.org/clinvar/195419 ^@ NM_153212.2(GJB4):c.611A>C (p.Glu204Ala) http://identifiers.org/clinvar/195420 ^@ NM_153212.2(GJB4):c.*17A>G http://identifiers.org/clinvar/195421 ^@ NM_153212.2(GJB4):c.153delT (p.Phe51Leufs) http://identifiers.org/clinvar/195422 ^@ NM_153240.4(NPHP3):c.518A>G (p.Lys173Arg) http://identifiers.org/clinvar/195423 ^@ NM_153240.4(NPHP3):c.434_437delAAAG (p.Glu145Valfs) http://identifiers.org/clinvar/195424 ^@ NM_153252.4(BRWD3):c.33G>A (p.Glu11=) http://identifiers.org/clinvar/195425 ^@ NM_153717.2(EVC):c.284A>G (p.Asp95Gly) http://identifiers.org/clinvar/195426 ^@ NM_171998.3(RAB39B):c.543A>G (p.Thr181=) http://identifiers.org/clinvar/195427 ^@ NM_173477.4(USH1G):c.715A>C (p.Lys239Gln) http://identifiers.org/clinvar/195428 ^@ NM_173495.2(PTCHD1):c.657C>T (p.Asn219=) http://identifiers.org/clinvar/195429 ^@ NM_173495.2(PTCHD1):c.822C>T (p.Thr274=) http://identifiers.org/clinvar/195430 ^@ NM_173495.2(PTCHD1):c.656A>G (p.Asn219Ser) http://identifiers.org/clinvar/195431 ^@ NM_173495.2(PTCHD1):c.798C>T (p.Arg266=) http://identifiers.org/clinvar/195432 ^@ NM_181457.3(PAX3):c.129T>C (p.Gly43=) http://identifiers.org/clinvar/195433 ^@ NM_198270.3(NHS):c.666C>T (p.Cys222=) http://identifiers.org/clinvar/195435 ^@ NM_198270.3(NHS):c.660A>C (p.Pro220=) http://identifiers.org/clinvar/195436 ^@ NM_198506.4(LRIT3):c.379G>T (p.Asp127Tyr) http://identifiers.org/clinvar/195437 ^@ NM_198506.4(LRIT3):c.524G>A (p.Ser175Asn) http://identifiers.org/clinvar/195438 ^@ NM_198506.4(LRIT3):c.331C>G (p.Arg111Gly) http://identifiers.org/clinvar/195439 ^@ NM_198506.4(LRIT3):c.565C>T (p.Leu189Phe) http://identifiers.org/clinvar/195440 ^@ NM_198525.2(KIF7):c.160C>T (p.His54Tyr) http://identifiers.org/clinvar/195441 ^@ NM_198525.2(KIF7):c.61C>T (p.Arg21Ter) http://identifiers.org/clinvar/195442 ^@ NM_201253.2(CRB1):c.600A>G (p.Thr200=) http://identifiers.org/clinvar/195443 ^@ NM_201253.2(CRB1):c.351C>G (p.Asn117Lys) http://identifiers.org/clinvar/195444 ^@ NM_203473.2(PORCN):c.288C>T (p.Gly96=) http://identifiers.org/clinvar/195445 ^@ NM_207122.1(EXT2):c.28C>A (p.Arg10=) http://identifiers.org/clinvar/195446 ^@ NM_207122.1(EXT2):c.284G>A (p.Arg95His) http://identifiers.org/clinvar/195447 ^@ NM_212550.4(BLOC1S3):c.609G>A (p.Ter203=) http://identifiers.org/clinvar/195448 ^@ NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) http://identifiers.org/clinvar/195449 ^@ NM_000052.6(ATP7A):c.3970G>A (p.Val1324Ile) http://identifiers.org/clinvar/195450 ^@ NM_000070.2(CAPN3):c.2134C>T (p.Leu712Phe) http://identifiers.org/clinvar/195451 ^@ NM_000088.3(COL1A1):c.1300-8C>T http://identifiers.org/clinvar/195452 ^@ NM_000088.3(COL1A1):c.1318G>A (p.Gly440Ser) http://identifiers.org/clinvar/195453 ^@ NM_000089.3(COL1A2):c.1076A>G (p.Asn359Ser) http://identifiers.org/clinvar/195454 ^@ NM_000090.3(COL3A1):c.1348-4dupT http://identifiers.org/clinvar/195455 ^@ NM_000260.3(MYO7A):c.2340T>G (p.Gly780=) http://identifiers.org/clinvar/195456 ^@ NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter) http://identifiers.org/clinvar/195457 ^@ NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) http://identifiers.org/clinvar/195458 ^@ NM_000368.4(TSC1):c.2515_2518delGAGT (p.Glu839Argfs) http://identifiers.org/clinvar/195459 ^@ NM_000414.3(HSD17B4):c.1767+8T>C http://identifiers.org/clinvar/195460 ^@ NM_000425.4(L1CAM):c.2657G>A (p.Arg886Gln) http://identifiers.org/clinvar/195461 ^@ NM_000426.3(LAMA2):c.2831A>G (p.Gln944Arg) http://identifiers.org/clinvar/195462 ^@ NM_000440.2(PDE6A):c.2332_2335delGACT (p.Asp778Leufs) http://identifiers.org/clinvar/195464 ^@ NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) http://identifiers.org/clinvar/195465 ^@ NM_000528.3(MAN2B1):c.2402dupG (p.Ser802Glnfs) http://identifiers.org/clinvar/195466 ^@ NM_000702.3(ATP1A2):c.2751G>A (p.Thr917=) http://identifiers.org/clinvar/195467 ^@ NM_000719.6(CACNA1C):c.2766G>A (p.Pro922=) http://identifiers.org/clinvar/195468 ^@ NM_001006657.1(WDR35):c.2182A>G (p.Ile728Val) http://identifiers.org/clinvar/195469 ^@ NM_001089.2(ABCA3):c.2675G>A (p.Arg892His) http://identifiers.org/clinvar/195470 ^@ NM_001127221.1(CACNA1A):c.3439G>A (p.Val1147Ile) http://identifiers.org/clinvar/195471 ^@ NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) http://identifiers.org/clinvar/195472 ^@ NM_001127221.1(CACNA1A):c.3312C>T (p.Pro1104=) http://identifiers.org/clinvar/195473 ^@ NM_000501.3(ELN):c.1269C>T (p.Val423=) http://identifiers.org/clinvar/195474 ^@ NM_001429.3(EP300):c.3591-6C>T http://identifiers.org/clinvar/195475 ^@ NM_001457.3(FLNB):c.3090C>T (p.Tyr1030=) http://identifiers.org/clinvar/195476 ^@ NM_001458.4(FLNC):c.3054C>T (p.Gly1018=) http://identifiers.org/clinvar/195477 ^@ NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) http://identifiers.org/clinvar/195478 ^@ NM_001852.3(COL9A2):c.1041C>T (p.Gly347=) http://identifiers.org/clinvar/195479 ^@ NM_001854.3(COL11A1):c.1944+11T>C http://identifiers.org/clinvar/195480 ^@ NM_002025.3(AFF2):c.3696A>T (p.Pro1232=) http://identifiers.org/clinvar/195481 ^@ NM_002206.2(ITGA7):c.2642T>A (p.Val881Asp) http://identifiers.org/clinvar/195482 ^@ NM_002222.5(ITPR1):c.2181G>A (p.Ala727=) http://identifiers.org/clinvar/195483 ^@ NM_001014797.2(KCNMA1):c.2322+9G>C http://identifiers.org/clinvar/195484 ^@ NM_002310.5(LIFR):c.3288C>T (p.Asn1096=) http://identifiers.org/clinvar/195485 ^@ NM_002335.3(LRP5):c.4278T>C (p.Tyr1426=) http://identifiers.org/clinvar/195486 ^@ NM_002420.5(TRPM1):c.2587A>G (p.Ile863Val) http://identifiers.org/clinvar/195487 ^@ NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) http://identifiers.org/clinvar/195488 ^@ NM_002977.3(SCN9A):c.3651T>C (p.Tyr1217=) http://identifiers.org/clinvar/195489 ^@ NM_003494.3(DYSF):c.1768C>T (p.Arg590Cys) http://identifiers.org/clinvar/195490 ^@ NM_003494.3(DYSF):c.1852G>A (p.Gly618Arg) http://identifiers.org/clinvar/195491 ^@ NM_004006.2(DMD):c.2601_2602delAA (p.Gln869Valfs) http://identifiers.org/clinvar/195492 ^@ NM_004010.3(DMD):c.2012-3T>C http://identifiers.org/clinvar/195493 ^@ NM_004006.2(DMD):c.2539A>G (p.Thr847Ala) http://identifiers.org/clinvar/195494 ^@ NM_004006.2(DMD):c.2575A>T (p.Thr859Ser) http://identifiers.org/clinvar/195495 ^@ NM_004006.2(DMD):c.2479G>T (p.Glu827Ter) http://identifiers.org/clinvar/195496 ^@ NM_005045.3(RELN):c.2466-7dupT http://identifiers.org/clinvar/195497 ^@ NM_005183.3(CACNA1F):c.2420-19delT http://identifiers.org/clinvar/195499 ^@ NM_005609.3(PYGM):c.2382C>T (p.Asn794=) http://identifiers.org/clinvar/195500 ^@ NM_006031.5(PCNT):c.3885T>C (p.Phe1295=) http://identifiers.org/clinvar/195501 ^@ NM_006363.4(SEC23B):c.*9_*10delTA http://identifiers.org/clinvar/195503 ^@ NM_007171.3(POMT1):c.2163C>T (p.Tyr721=) http://identifiers.org/clinvar/195504 ^@ NM_007171.3(POMT1):c.2070-1G>C http://identifiers.org/clinvar/195505 ^@ NM_007171.3(POMT1):c.2163C>A (p.Tyr721Ter) http://identifiers.org/clinvar/195506 ^@ NM_001172435.1(RAB3GAP1):c.2343_2347delACCTT (p.Pro782Cysfs) http://identifiers.org/clinvar/195507 ^@ NM_012463.3(ATP6V0A2):c.2466-4_2466-3delTT http://identifiers.org/clinvar/195508 ^@ NM_014141.5(CNTNAP2):c.3248-3T>C http://identifiers.org/clinvar/195509 ^@ NM_014141.5(CNTNAP2):c.3355C>T (p.Arg1119Cys) http://identifiers.org/clinvar/195510 ^@ NM_014714.3(IFT140):c.2551G>A (p.Val851Met) http://identifiers.org/clinvar/195511 ^@ NM_014927.4(CNKSR2):c.2609A>G (p.Asp870Gly) http://identifiers.org/clinvar/195512 ^@ NM_015074.3(KIF1B):c.1905-9dupT http://identifiers.org/clinvar/195513 ^@ NM_015074.3(KIF1B):c.1905-10_1905-9delTT http://identifiers.org/clinvar/195514 ^@ NM_015192.3(PLCB1):c.2088C>T (p.Tyr696=) http://identifiers.org/clinvar/195515 ^@ NM_015560.2(OPA1):c.1923G>A (p.Ala641=) http://identifiers.org/clinvar/195516 ^@ NM_017534.5(MYH2):c.2295G>A (p.Gly765=) http://identifiers.org/clinvar/195517 ^@ NM_017534.5(MYH2):c.2304+7T>G http://identifiers.org/clinvar/195518 ^@ NM_017651.4(AHI1):c.2798A>G (p.Tyr933Cys) http://identifiers.org/clinvar/195519 ^@ NM_001134831.1(AHI1):c.2808A>G (p.Thr936=) http://identifiers.org/clinvar/195520 ^@ NM_017890.4(VPS13B):c.2852G>T (p.Gly951Val) http://identifiers.org/clinvar/195521 ^@ NM_017950.3(CCDC40):c.3424T>C (p.Ser1142Pro) http://identifiers.org/clinvar/195522 ^@ NM_017950.3(CCDC40):c.3354C>A (p.Tyr1118Ter) http://identifiers.org/clinvar/195523 ^@ NM_017950.3(CCDC40):c.3349G>A (p.Glu1117Lys) http://identifiers.org/clinvar/195524 ^@ NM_017950.3(CCDC40):c.3408C>T (p.Leu1136=) http://identifiers.org/clinvar/195525 ^@ NM_018979.3(WNK1):c.5281-4G>A http://identifiers.org/clinvar/195526 ^@ NM_020631.4(PLEKHG5):c.2867G>A (p.Arg956Lys) http://identifiers.org/clinvar/195527 ^@ NM_020631.4(PLEKHG5):c.2720T>C (p.Leu907Pro) http://identifiers.org/clinvar/195528 ^@ NM_020631.4(PLEKHG5):c.2564C>T (p.Ser855Leu) http://identifiers.org/clinvar/195529 ^@ NM_024312.4(GNPTAB):c.3693+10A>T http://identifiers.org/clinvar/195530 ^@ NM_024753.4(TTC21B):c.2569-5dupT http://identifiers.org/clinvar/195531 ^@ NM_024753.4(TTC21B):c.2587C>T (p.Arg863Trp) http://identifiers.org/clinvar/195532 ^@ NM_024757.4(EHMT1):c.3015C>T (p.Pro1005=) http://identifiers.org/clinvar/195533 ^@ NM_024757.4(EHMT1):c.3011G>A (p.Ser1004Asn) http://identifiers.org/clinvar/195534 ^@ NM_031220.3(PITPNM3):c.2700C>T (p.Arg900=) http://identifiers.org/clinvar/195535 ^@ NM_032119.3(ADGRV1):c.4168A>G (p.Asn1390Asp) http://identifiers.org/clinvar/195536 ^@ NM_033056.3(PCDH15):c.2619A>G (p.Glu873=) http://identifiers.org/clinvar/195537 ^@ NM_052985.3(IFT122):c.2398A>T (p.Met800Leu) http://identifiers.org/clinvar/195538 ^@ NM_138694.3(PKHD1):c.1849T>C (p.Tyr617His) http://identifiers.org/clinvar/195539 ^@ NM_147127.4(EVC2):c.3507C>T (p.His1169=) http://identifiers.org/clinvar/195540 ^@ NM_147127.4(EVC2):c.3557+10G>A http://identifiers.org/clinvar/195541 ^@ NM_147127.4(EVC2):c.3405_3411delCGGGGCC (p.Gly1136Argfs) http://identifiers.org/clinvar/195543 ^@ NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) http://identifiers.org/clinvar/195544 ^@ NM_213599.2(ANO5):c.2236-10dupT http://identifiers.org/clinvar/195545 ^@ NM_001267550.2(TTN):c.46846A>G (p.Thr15616Ala) http://identifiers.org/clinvar/195546 ^@ NM_001256850.1(TTN):c.42590G>A (p.Arg14197Gln) http://identifiers.org/clinvar/195547 ^@ NM_001267550.2(TTN):c.47870C>T (p.Ala15957Val) http://identifiers.org/clinvar/195548 ^@ NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) http://identifiers.org/clinvar/195549 ^@ NM_001267550.2(TTN):c.48212C>T (p.Ser16071Leu) http://identifiers.org/clinvar/195550 ^@ NM_001267550.2(TTN):c.48385G>A (p.Val16129Ile) http://identifiers.org/clinvar/195551 ^@ NM_001256850.1(TTN):c.43539G>A (p.Thr14513=) http://identifiers.org/clinvar/195552 ^@ NM_000070.2(CAPN3):c.2235C>T (p.Tyr745=) http://identifiers.org/clinvar/195554 ^@ NM_000070.2(CAPN3):c.2236G>A (p.Glu746Lys) http://identifiers.org/clinvar/195555 ^@ NM_000124.3(ERCC6):c.4066G>A (p.Gly1356Ser) http://identifiers.org/clinvar/195556 ^@ NM_000260.3(MYO7A):c.2572C>T (p.Arg858Cys) http://identifiers.org/clinvar/195557 ^@ NM_000275.2(OCA2):c.2207C>T (p.Ser736Leu) http://identifiers.org/clinvar/195558 ^@ NM_000275.2(OCA2):c.2244+18A>G http://identifiers.org/clinvar/195559 ^@ NM_000276.3(OCRL):c.2299C>T (p.Gln767Ter) http://identifiers.org/clinvar/195560 ^@ NM_000282.3(PCCA):c.1899+4_1899+7delAGTA http://identifiers.org/clinvar/195561 ^@ NM_000368.4(TSC1):c.2626-4_2626-3insTT http://identifiers.org/clinvar/195562 ^@ NM_000368.4(TSC1):c.2626-4dupT http://identifiers.org/clinvar/195563 ^@ NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) http://identifiers.org/clinvar/195564 ^@ NM_000368.4(TSC1):c.2626-5_2626-4delTT http://identifiers.org/clinvar/195565 ^@ NM_000414.3(HSD17B4):c.1845A>C (p.Thr615=) http://identifiers.org/clinvar/195566 ^@ NM_000426.3(LAMA2):c.2993G>A (p.Arg998His) http://identifiers.org/clinvar/195567 ^@ NM_000553.4(WRN):c.2521G>A (p.Ala841Thr) http://identifiers.org/clinvar/195568 ^@ NM_000875.4(IGF1R):c.4009C>T (p.Arg1337Cys) http://identifiers.org/clinvar/195569 ^@ NM_000875.4(IGF1R):c.3984C>T (p.Gly1328=) http://identifiers.org/clinvar/195570 ^@ NM_000875.4(IGF1R):c.4058G>A (p.Arg1353His) http://identifiers.org/clinvar/195571 ^@ NM_001080463.1(DYNC2H1):c.3015A>G (p.Leu1005=) http://identifiers.org/clinvar/195572 ^@ NM_001080522.2(CC2D2A):c.2542A>C (p.Met848Leu) http://identifiers.org/clinvar/195573 ^@ NM_001127221.1(CACNA1A):c.3607_3609delAAG (p.Lys1203del) http://identifiers.org/clinvar/195574 ^@ NM_001127221.1(CACNA1A):c.3618_3620delGGA (p.Glu1207del) http://identifiers.org/clinvar/195575 ^@ NM_015170.2(SULF1):c.2440G>A (p.Val814Met) http://identifiers.org/clinvar/195576 ^@ NM_006920.4(SCN1A):c.4191G>A (p.Trp1397Ter) http://identifiers.org/clinvar/195577 ^@ NM_006920.4(SCN1A):c.4251+7G>A http://identifiers.org/clinvar/195578 ^@ NM_006920.4(SCN1A):c.3977T>G (p.Val1326Gly) http://identifiers.org/clinvar/195579 ^@ NM_001277115.1(DNAH11):c.4001T>C (p.Ile1334Thr) http://identifiers.org/clinvar/195580 ^@ NM_001376.4(DYNC1H1):c.4533G>A (p.Pro1511=) http://identifiers.org/clinvar/195581 ^@ NM_001456.3(FLNA):c.3064C>G (p.Pro1022Ala) http://identifiers.org/clinvar/195583 ^@ NM_001458.4(FLNC):c.3243G>A (p.Ala1081=) http://identifiers.org/clinvar/195584 ^@ NM_001844.4(COL2A1):c.1358G>C (p.Gly453Ala) http://identifiers.org/clinvar/195586 ^@ NM_001853.3(COL9A3):c.1095G>A (p.Glu365=) http://identifiers.org/clinvar/195587 ^@ NM_002247.3(KCNMA1):c.2391C>T (p.Ile797=) http://identifiers.org/clinvar/195588 ^@ NM_002420.5(TRPM1):c.2635-10T>A http://identifiers.org/clinvar/195589 ^@ NM_002547.2(OPHN1):c.2056C>T (p.Pro686Ser) http://identifiers.org/clinvar/195590 ^@ NM_002547.2(OPHN1):c.1903C>A (p.His635Asn) http://identifiers.org/clinvar/195591 ^@ NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) http://identifiers.org/clinvar/195592 ^@ NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) http://identifiers.org/clinvar/195593 ^@ NM_003482.3(KMT2D):c.5142T>G (p.Pro1714=) http://identifiers.org/clinvar/195594 ^@ NM_003482.3(KMT2D):c.5131A>T (p.Lys1711Ter) http://identifiers.org/clinvar/195595 ^@ NM_003494.3(DYSF):c.1931-4C>G http://identifiers.org/clinvar/195596 ^@ NM_003494.3(DYSF):c.1931-2delA http://identifiers.org/clinvar/195597 ^@ NM_003494.3(DYSF):c.1956G>A (p.Trp652Ter) http://identifiers.org/clinvar/195598 ^@ NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) http://identifiers.org/clinvar/195599 ^@ NM_004006.2(DMD):c.2745A>C (p.Thr915=) http://identifiers.org/clinvar/195600 ^@ NM_004006.2(DMD):c.2803+1G>C http://identifiers.org/clinvar/195601 ^@ NM_004187.3(KDM5C):c.3126_3128delTGAinsCAGG (p.Asp1043Argfs) http://identifiers.org/clinvar/195602 ^@ NM_005045.3(RELN):c.2754A>G (p.Gln918=) http://identifiers.org/clinvar/195603 ^@ NM_005562.2(LAMC2):c.3206C>T (p.Thr1069Met) http://identifiers.org/clinvar/195604 ^@ NM_005603.4(ATP8B1):c.2358G>A (p.Val786=) http://identifiers.org/clinvar/195605 ^@ NM_006031.5(PCNT):c.4109G>A (p.Arg1370Gln) http://identifiers.org/clinvar/195606 ^@ NM_006662.2(SRCAP):c.3388C>T (p.Pro1130Ser) http://identifiers.org/clinvar/195607 ^@ NM_012301.3(MAGI2):c.3706+5G>A http://identifiers.org/clinvar/195608 ^@ NM_015102.4(NPHP4):c.2965G>A (p.Glu989Lys) http://identifiers.org/clinvar/195609 ^@ NM_015102.4(NPHP4):c.3028G>A (p.Asp1010Asn) http://identifiers.org/clinvar/195610 ^@ NM_015102.4(NPHP4):c.2914A>G (p.Ser972Gly) http://identifiers.org/clinvar/195612 ^@ NM_015102.4(NPHP4):c.2818-20C>T http://identifiers.org/clinvar/195613 ^@ NM_015102.4(NPHP4):c.3036C>T (p.Pro1012=) http://identifiers.org/clinvar/195614 ^@ NM_015102.4(NPHP4):c.2892C>T (p.Ala964=) http://identifiers.org/clinvar/195615 ^@ NM_015560.2(OPA1):c.2059_2060delGA (p.Glu687Thrfs) http://identifiers.org/clinvar/195616 ^@ NM_018136.4(ASPM):c.9101G>A (p.Cys3034Tyr) http://identifiers.org/clinvar/195617 ^@ NM_020366.3(RPGRIP1):c.3377C>T (p.Ala1126Val) http://identifiers.org/clinvar/195618 ^@ NM_020822.2(KCNT1):c.2430C>T (p.Ala810=) http://identifiers.org/clinvar/195619 ^@ NM_020822.2(KCNT1):c.2376C>T (p.Asp792=) http://identifiers.org/clinvar/195620 ^@ NM_024757.4(EHMT1):c.3081C>T (p.Asn1027=) http://identifiers.org/clinvar/195621 ^@ NM_025132.3(WDR19):c.2364-15_2364-14delTT http://identifiers.org/clinvar/195622 ^@ NM_025132.3(WDR19):c.2364-3delC http://identifiers.org/clinvar/195623 ^@ NM_032119.3(ADGRV1):c.4468C>A (p.Leu1490Met) http://identifiers.org/clinvar/195624 ^@ NM_032119.3(ADGRV1):c.4666G>A (p.Glu1556Lys) http://identifiers.org/clinvar/195625 ^@ NM_032119.3(ADGRV1):c.4702delA (p.Ser1568Valfs) http://identifiers.org/clinvar/195626 ^@ NM_032682.5(FOXP1):c.1902C>T (p.His634=) http://identifiers.org/clinvar/195627 ^@ NM_015384.4(NIPBL):c.4520C>T (p.Ser1507Leu) http://identifiers.org/clinvar/195628 ^@ NM_144966.5(FREM1):c.3485A>G (p.Gln1162Arg) http://identifiers.org/clinvar/195629 ^@ NM_144966.5(FREM1):c.3631C>T (p.Pro1211Ser) http://identifiers.org/clinvar/195630 ^@ NM_153240.4(NPHP3):c.2994G>A (p.Trp998Ter) http://identifiers.org/clinvar/195631 ^@ NM_001142301.1(TMEM67):c.1889A>C (p.Asp630Ala) http://identifiers.org/clinvar/195632 ^@ NM_198428.2(BBS9):c.2363C>T (p.Ser788Phe) http://identifiers.org/clinvar/195633 ^@ NM_198428.2(BBS9):c.2403A>G (p.Ile801Met) http://identifiers.org/clinvar/195634 ^@ NM_213599.2(ANO5):c.2503_2505delTTC (p.Phe835del) http://identifiers.org/clinvar/195635 ^@ NM_001267550.2(TTN):c.49336dupT (p.Tyr16446Leufs) http://identifiers.org/clinvar/195636 ^@ NM_001256850.1(TTN):c.44249G>A (p.Arg14750Gln) http://identifiers.org/clinvar/195637 ^@ NM_001267550.2(TTN):c.49280C>G (p.Ala16427Gly) http://identifiers.org/clinvar/195638 ^@ NM_001267550.2(TTN):c.49949A>G (p.Tyr16650Cys) http://identifiers.org/clinvar/195639 ^@ NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) http://identifiers.org/clinvar/195640 ^@ NM_001267550.2(TTN):c.50566C>A (p.Pro16856Thr) http://identifiers.org/clinvar/195641 ^@ NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) http://identifiers.org/clinvar/195642 ^@ NM_198129.2(LAMA3):c.7657C>G (p.Leu2553Val) http://identifiers.org/clinvar/195643 ^@ NM_000275.2(OCA2):c.2328T>C (p.Ala776=) http://identifiers.org/clinvar/195644 ^@ NM_000275.2(OCA2):c.2273A>G (p.Asp758Gly) http://identifiers.org/clinvar/195645 ^@ NM_000275.2(OCA2):c.2293G>A (p.Ala765Thr) http://identifiers.org/clinvar/195646 ^@ NM_000321.2(RB1):c.2212-15A>G http://identifiers.org/clinvar/195647 ^@ NM_000352.4(ABCC8):c.2610C>T (p.Ala870=) http://identifiers.org/clinvar/195648 ^@ NM_000392.4(ABCC2):c.3026T>C (p.Ile1009Thr) http://identifiers.org/clinvar/195649 ^@ NM_000392.4(ABCC2):c.2901C>A (p.Tyr967Ter) http://identifiers.org/clinvar/195650 ^@ NM_000393.4(COL5A2):c.1455+6G>T http://identifiers.org/clinvar/195651 ^@ NM_000425.4(L1CAM):c.3015C>T (p.Ile1005=) http://identifiers.org/clinvar/195652 ^@ NM_000444.5(PHEX):c.2214G>A (p.Thr738=) http://identifiers.org/clinvar/195653 ^@ NM_000445.4(PLEC):c.2685C>T (p.Ala895=) http://identifiers.org/clinvar/195654 ^@ NM_000445.4(PLEC):c.2539-8C>T http://identifiers.org/clinvar/195655 ^@ NM_000445.4(PLEC):c.2578C>T (p.Pro860Ser) http://identifiers.org/clinvar/195656 ^@ NM_000445.4(PLEC):c.2632G>A (p.Val878Met) http://identifiers.org/clinvar/195657 ^@ NM_000552.4(VWF):c.2880G>A (p.Arg960=) http://identifiers.org/clinvar/195658 ^@ NM_000702.3(ATP1A2):c.3034+6C>A http://identifiers.org/clinvar/195659 ^@ NM_001035.2(RYR2):c.2449C>G (p.Pro817Ala) http://identifiers.org/clinvar/195660 ^@ NM_001080463.1(DYNC2H1):c.3181C>G (p.Leu1061Val) http://identifiers.org/clinvar/195661 ^@ NM_001080463.1(DYNC2H1):c.3097-4A>G http://identifiers.org/clinvar/195662 ^@ NM_001083961.1(WDR62):c.2666T>C (p.Met889Thr) http://identifiers.org/clinvar/195663 ^@ NM_001127221.1(CACNA1A):c.3825+1G>A http://identifiers.org/clinvar/195664 ^@ NM_001130438.2(SPTAN1):c.3133C>T (p.Arg1045Trp) http://identifiers.org/clinvar/195665 ^@ NM_001142800.1(EYS):c.3443+1G>T http://identifiers.org/clinvar/195666 ^@ NM_001142800.1(EYS):c.3250A>C (p.Thr1084Pro) http://identifiers.org/clinvar/195667 ^@ NM_001297.4(CNGB1):c.2209C>T (p.Arg737Cys) http://identifiers.org/clinvar/195668 ^@ NM_001369.2(DNAH5):c.3363T>G (p.Ser1121=) http://identifiers.org/clinvar/195669 ^@ NM_001110556.1(FLNA):c.3282C>G (p.Gly1094=) http://identifiers.org/clinvar/195670 ^@ NM_001110556.1(FLNA):c.3285C>T (p.Ala1095=) http://identifiers.org/clinvar/195671 ^@ NM_001456.3(FLNA):c.3348C>A (p.Asp1116Glu) http://identifiers.org/clinvar/195672 ^@ NM_002335.3(LRP5):c.4574C>T (p.Ala1525Val) http://identifiers.org/clinvar/195673 ^@ NM_002335.3(LRP5):c.4565C>T (p.Pro1522Leu) http://identifiers.org/clinvar/195674 ^@ NM_002547.2(OPHN1):c.2307G>A (p.Gly769=) http://identifiers.org/clinvar/195675 ^@ NM_002547.2(OPHN1):c.2324+10G>T http://identifiers.org/clinvar/195676 ^@ NM_002977.3(SCN9A):c.4040G>A (p.Arg1347Gln) http://identifiers.org/clinvar/195677 ^@ NM_003494.3(DYSF):c.2162+6G>C http://identifiers.org/clinvar/195678 ^@ NM_004006.2(DMD):c.2804-2A>T http://identifiers.org/clinvar/195679 ^@ NM_004006.2(DMD):c.2815_2816delTT (p.Leu939Alafs) http://identifiers.org/clinvar/195680 ^@ NM_004006.2(DMD):c.2933_2934delGA (p.Arg978Thrfs) http://identifiers.org/clinvar/195681 ^@ NM_001271208.1(NEB):c.2020G>A (p.Val674Ile) http://identifiers.org/clinvar/195682 ^@ NM_005045.3(RELN):c.2954C>G (p.Ala985Gly) http://identifiers.org/clinvar/195683 ^@ NM_005603.4(ATP8B1):c.2442G>T (p.Lys814Asn) http://identifiers.org/clinvar/195684 ^@ NM_006922.3(SCN3A):c.3933T>C (p.Pro1311=) http://identifiers.org/clinvar/195685 ^@ NM_012301.3(MAGI2):c.4109G>C (p.Arg1370Pro) http://identifiers.org/clinvar/195686 ^@ NM_014014.4(SNRNP200):c.3005A>G (p.Asn1002Ser) http://identifiers.org/clinvar/195687 ^@ NM_014141.5(CNTNAP2):c.3476-8dupT http://identifiers.org/clinvar/195688 ^@ NM_014191.3(SCN8A):c.3967G>A (p.Ala1323Thr) http://identifiers.org/clinvar/195689 ^@ NM_014191.3(SCN8A):c.3985A>G (p.Asn1329Asp) http://identifiers.org/clinvar/195690 ^@ NM_014714.3(IFT140):c.2829G>A (p.Pro943=) http://identifiers.org/clinvar/195691 ^@ NM_014780.4(CUL7):c.4258G>A (p.Gly1420Ser) http://identifiers.org/clinvar/195692 ^@ NM_017534.5(MYH2):c.2565G>A (p.Met855Ile) http://identifiers.org/clinvar/195693 ^@ NM_017890.4(VPS13B):c.3148G>A (p.Glu1050Lys) http://identifiers.org/clinvar/195694 ^@ NM_018668.4(VPS33B):c.1701C>T (p.Leu567=) http://identifiers.org/clinvar/195695 ^@ NM_001040142.1(SCN2A):c.4156T>G (p.Cys1386Gly) http://identifiers.org/clinvar/195696 ^@ NM_023073.3(C5orf42):c.3828T>C (p.Leu1276=) http://identifiers.org/clinvar/195697 ^@ NM_025074.6(FRAS1):c.2722+1G>A http://identifiers.org/clinvar/195698 ^@ NM_133647.1(SLC12A6):c.3042+8A>G http://identifiers.org/clinvar/195699 ^@ NM_138694.3(PKHD1):c.2172_2174delAGG (p.Gly726del) http://identifiers.org/clinvar/195700 ^@ NM_138694.3(PKHD1):c.2279+13T>G http://identifiers.org/clinvar/195701 ^@ NM_138694.3(PKHD1):c.2167C>T (p.Arg723Cys) http://identifiers.org/clinvar/195702 ^@ NM_147127.4(EVC2):c.3703T>C (p.Phe1235Leu) http://identifiers.org/clinvar/195704 ^@ NM_194248.2(OTOF):c.2575C>T (p.Arg859Cys) http://identifiers.org/clinvar/195705 ^@ NM_213599.2(ANO5):c.2521C>G (p.His841Asp) http://identifiers.org/clinvar/195706 ^@ NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) http://identifiers.org/clinvar/195707 ^@ NM_001267550.2(TTN):c.51231C>A (p.Thr17077=) http://identifiers.org/clinvar/195708 ^@ NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) http://identifiers.org/clinvar/195709 ^@ NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) http://identifiers.org/clinvar/195710 ^@ NM_001256850.1(TTN):c.47081G>A (p.Arg15694His) http://identifiers.org/clinvar/195711 ^@ NM_001256850.1(TTN):c.47451T>C (p.Val15817=) http://identifiers.org/clinvar/195712 ^@ NM_001267550.2(TTN):c.52457G>A (p.Ser17486Asn) http://identifiers.org/clinvar/195713 ^@ NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) http://identifiers.org/clinvar/195714 ^@ NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) http://identifiers.org/clinvar/195715 ^@ NM_001267550.2(TTN):c.53458T>A (p.Ser17820Thr) http://identifiers.org/clinvar/195716 ^@ NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) http://identifiers.org/clinvar/195717 ^@ NM_001267550.2(TTN):c.54054G>A (p.Lys18018=) http://identifiers.org/clinvar/195718 ^@ NM_000070.2(CAPN3):c.2381-17T>G http://identifiers.org/clinvar/195719 ^@ NM_000070.2(CAPN3):c.2409A>T (p.Gly803=) http://identifiers.org/clinvar/195720 ^@ NM_000257.3(MYH7):c.3056C>A (p.Thr1019Asn) http://identifiers.org/clinvar/195721 ^@ NM_000264.3(PTCH1):c.3960A>G (p.Arg1320=) http://identifiers.org/clinvar/195722 ^@ NM_000271.4(NPC1):c.3591+4delA http://identifiers.org/clinvar/195723 ^@ NM_000271.4(NPC1):c.3493G>A (p.Val1165Met) http://identifiers.org/clinvar/195724 ^@ NM_000271.4(NPC1):c.3528G>A (p.Thr1176=) http://identifiers.org/clinvar/195725 ^@ NM_000275.2(OCA2):c.2425T>A (p.Phe809Ile) http://identifiers.org/clinvar/195726 ^@ NM_000321.2(RB1):c.2370C>A (p.Tyr790Ter) http://identifiers.org/clinvar/195727 ^@ NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) http://identifiers.org/clinvar/195728 ^@ NM_000368.4(TSC1):c.3347G>A (p.Ser1116Asn) http://identifiers.org/clinvar/195729 ^@ NM_000392.4(ABCC2):c.3107T>C (p.Ile1036Thr) http://identifiers.org/clinvar/195730 ^@ NM_000489.4(ATRX):c.5693A>G (p.Asn1898Ser) http://identifiers.org/clinvar/195731 ^@ NM_000492.3(CFTR):c.3747G>A (p.Gly1249=) http://identifiers.org/clinvar/195732 ^@ NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) http://identifiers.org/clinvar/195733 ^@ NM_001080463.1(DYNC2H1):c.3353delG (p.Ser1118Ilefs) http://identifiers.org/clinvar/195734 ^@ NM_001080522.2(CC2D2A):c.2900T>C (p.Ile967Thr) http://identifiers.org/clinvar/195735 ^@ NM_001142800.1(EYS):c.3568+5T>C http://identifiers.org/clinvar/195736 ^@ NM_006920.4(SCN1A):c.4356T>A (p.Phe1452Leu) http://identifiers.org/clinvar/195737 ^@ NM_006920.4(SCN1A):c.4374T>A (p.Phe1458Leu) http://identifiers.org/clinvar/195738 ^@ NM_001184.3(ATR):c.4153-10dupT http://identifiers.org/clinvar/195739 ^@ NM_001456.3(FLNA):c.3876C>T (p.His1292=) http://identifiers.org/clinvar/195740 ^@ NM_001458.4(FLNC):c.3966C>T (p.Gly1322=) http://identifiers.org/clinvar/195741 ^@ NM_001458.4(FLNC):c.4022G>A (p.Arg1341Gln) http://identifiers.org/clinvar/195742 ^@ NM_001844.4(COL2A1):c.1510G>A (p.Gly504Ser) http://identifiers.org/clinvar/195743 ^@ NM_001844.4(COL2A1):c.1420-2A>C http://identifiers.org/clinvar/195744 ^@ NM_001844.4(COL2A1):c.1433C>T (p.Pro478Leu) http://identifiers.org/clinvar/195745 ^@ NM_001848.2(COL6A1):c.1575C>T (p.Pro525=) http://identifiers.org/clinvar/195746 ^@ NM_001014797.2(KCNMA1):c.2752C>T (p.Pro918Ser) http://identifiers.org/clinvar/195747 ^@ NM_003482.3(KMT2D):c.5423delG (p.Gly1808Glufs) http://identifiers.org/clinvar/195748 ^@ NM_003494.3(DYSF):c.2332C>T (p.Arg778Cys) http://identifiers.org/clinvar/195749 ^@ NM_003494.3(DYSF):c.2281G>A (p.Gly761Ser) http://identifiers.org/clinvar/195750 ^@ NM_003742.2(ABCB11):c.2943C>T (p.Tyr981=) http://identifiers.org/clinvar/195751 ^@ NM_004006.2(DMD):c.3101C>T (p.Ser1034Phe) http://identifiers.org/clinvar/195752 ^@ NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) http://identifiers.org/clinvar/195753 ^@ NM_004006.2(DMD):c.3098C>T (p.Ser1033Phe) http://identifiers.org/clinvar/195754 ^@ NM_004415.3(DSP):c.4009delG (p.Glu1337Argfs) http://identifiers.org/clinvar/195755 ^@ NM_004415.3(DSP):c.5188G>A (p.Glu1730Lys) http://identifiers.org/clinvar/195756 ^@ NM_004817.3(TJP2):c.3408-6delT http://identifiers.org/clinvar/195757 ^@ NM_005045.3(RELN):c.3123C>T (p.Gly1041=) http://identifiers.org/clinvar/195759 ^@ NM_005334.2(HCFC1):c.5664T>G (p.Pro1888=) http://identifiers.org/clinvar/195760 ^@ NM_005529.6(HSPG2):c.2847G>A (p.Glu949=) http://identifiers.org/clinvar/195761 ^@ NM_005633.3(SOS1):c.3769A>G (p.Thr1257Ala) http://identifiers.org/clinvar/195763 ^@ NM_006059.3(LAMC3):c.3927+8C>G http://identifiers.org/clinvar/195764 ^@ NM_006726.4(LRBA):c.3307G>C (p.Glu1103Gln) http://identifiers.org/clinvar/195766 ^@ NM_014846.3(WASHC5):c.2771-7T>C http://identifiers.org/clinvar/195767 ^@ NM_015560.2(OPA1):c.2355+13A>G http://identifiers.org/clinvar/195768 ^@ NM_015560.2(OPA1):c.2276-4C>G http://identifiers.org/clinvar/195769 ^@ NM_017534.5(MYH2):c.2908G>A (p.Val970Ile) http://identifiers.org/clinvar/195770 ^@ NM_017651.4(AHI1):c.3164C>T (p.Thr1055Met) http://identifiers.org/clinvar/195771 ^@ NM_017780.3(CHD7):c.5115G>A (p.Pro1705=) http://identifiers.org/clinvar/195772 ^@ NM_017890.4(VPS13B):c.3406G>A (p.Glu1136Lys) http://identifiers.org/clinvar/195773 ^@ NM_022124.5(CDH23):c.2494A>C (p.Lys832Gln) http://identifiers.org/clinvar/195774 ^@ NM_022124.5(CDH23):c.2532C>T (p.Asn844=) http://identifiers.org/clinvar/195775 ^@ NM_022455.4(NSD1):c.6887T>C (p.Val2296Ala) http://identifiers.org/clinvar/195776 ^@ NM_024408.3(NOTCH2):c.3657C>A (p.Gly1219=) http://identifiers.org/clinvar/195777 ^@ NM_024753.4(TTC21B):c.3004C>G (p.Leu1002Val) http://identifiers.org/clinvar/195778 ^@ NM_032119.3(ADGRV1):c.4975G>A (p.Glu1659Lys) http://identifiers.org/clinvar/195779 ^@ NM_033071.3(SYNE1):c.2590-8C>T http://identifiers.org/clinvar/195780 ^@ NM_052985.3(IFT122):c.2902T>G (p.Tyr968Asp) http://identifiers.org/clinvar/195781 ^@ NM_052985.3(IFT122):c.2874G>A (p.Ala958=) http://identifiers.org/clinvar/195782 ^@ NM_052985.3(IFT122):c.2873C>T (p.Ala958Val) http://identifiers.org/clinvar/195783 ^@ NM_015384.4(NIPBL):c.4683G>C (p.Leu1561=) http://identifiers.org/clinvar/195784 ^@ NM_153240.4(NPHP3):c.3281G>A (p.Arg1094Gln) http://identifiers.org/clinvar/195785 ^@ NM_172364.4(CACNA2D4):c.2189C>T (p.Ala730Val) http://identifiers.org/clinvar/195786 ^@ NM_172364.4(CACNA2D4):c.2239A>G (p.Met747Val) http://identifiers.org/clinvar/195787 ^@ NM_206933.2(USH2A):c.4882A>T (p.Thr1628Ser) http://identifiers.org/clinvar/195788 ^@ NM_206933.2(USH2A):c.4796G>A (p.Gly1599Asp) http://identifiers.org/clinvar/195789 ^@ NM_207361.5(FREM2):c.8902G>A (p.Val2968Ile) http://identifiers.org/clinvar/195790 ^@ NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter) http://identifiers.org/clinvar/195791 ^@ NM_001256850.1(TTN):c.49398A>G (p.Ala16466=) http://identifiers.org/clinvar/195792 ^@ NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) http://identifiers.org/clinvar/195793 ^@ NM_001267550.2(TTN):c.54703C>G (p.Arg18235Gly) http://identifiers.org/clinvar/195794 ^@ NM_001267550.2(TTN):c.55513G>A (p.Asp18505Asn) http://identifiers.org/clinvar/195795 ^@ NM_001267550.2(TTN):c.55520G>A (p.Gly18507Glu) http://identifiers.org/clinvar/195796 ^@ NM_133378.4(TTN):c.48831G>A (p.Thr16277=) http://identifiers.org/clinvar/195797 ^@ NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) http://identifiers.org/clinvar/195798 ^@ NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) http://identifiers.org/clinvar/195799 ^@ NM_000350.2(ABCA4):c.3576C>T (p.Val1192=) http://identifiers.org/clinvar/195800 ^@ NM_000392.4(ABCC2):c.3379G>A (p.Val1127Ile) http://identifiers.org/clinvar/195801 ^@ NM_000445.4(PLEC):c.2925C>T (p.Pro975=) http://identifiers.org/clinvar/195802 ^@ NM_000445.4(PLEC):c.2829C>T (p.Thr943=) http://identifiers.org/clinvar/195803 ^@ NM_001006657.1(WDR35):c.2810A>G (p.Tyr937Cys) http://identifiers.org/clinvar/195804 ^@ NM_001083961.1(WDR62):c.2887G>A (p.Val963Met) http://identifiers.org/clinvar/195805 ^@ NM_001099922.2(ALG13):c.2796_2798dupACC (p.Pro945_Ala946insPro) http://identifiers.org/clinvar/195806 ^@ NM_001130438.2(SPTAN1):c.3414+4T>C http://identifiers.org/clinvar/195807 ^@ NM_001277115.1(DNAH11):c.4294T>G (p.Leu1432Val) http://identifiers.org/clinvar/195808 ^@ NM_001369.2(DNAH5):c.3734G>A (p.Arg1245His) http://identifiers.org/clinvar/195809 ^@ NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) http://identifiers.org/clinvar/195810 ^@ NM_001376.4(DYNC1H1):c.5001C>T (p.Asn1667=) http://identifiers.org/clinvar/195811 ^@ NM_001845.5(COL4A1):c.1466-6C>T http://identifiers.org/clinvar/195812 ^@ NM_001848.2(COL6A1):c.1611C>A (p.Asn537Lys) http://identifiers.org/clinvar/195813 ^@ NM_001851.4(COL9A1):c.1656T>C (p.Pro552=) http://identifiers.org/clinvar/195814 ^@ NM_080629.2(COL11A1):c.2134-4A>T http://identifiers.org/clinvar/195815 ^@ NM_002977.3(SCN9A):c.4323C>T (p.Phe1441=) http://identifiers.org/clinvar/195816 ^@ NM_002977.3(SCN9A):c.4281C>T (p.Val1427=) http://identifiers.org/clinvar/195817 ^@ NM_003494.3(DYSF):c.2460T>G (p.Gly820=) http://identifiers.org/clinvar/195818 ^@ NM_004006.2(DMD):c.3269A>T (p.Gln1090Leu) http://identifiers.org/clinvar/195819 ^@ NM_004380.2(CREBBP):c.4133+4A>G http://identifiers.org/clinvar/195820 ^@ NM_004380.2(CREBBP):c.3993delC (p.Thr1332Glnfs) http://identifiers.org/clinvar/195821 ^@ NM_004415.3(DSP):c.7745T>G (p.Phe2582Cys) http://identifiers.org/clinvar/195822 ^@ NM_001271208.1(NEB):c.2283C>T (p.Ala761=) http://identifiers.org/clinvar/195823 ^@ NM_005045.3(RELN):c.3190G>A (p.Ala1064Thr) http://identifiers.org/clinvar/195824 ^@ NM_005445.3(SMC3):c.2782C>G (p.Arg928Gly) http://identifiers.org/clinvar/195825 ^@ NM_005529.6(HSPG2):c.3056C>T (p.Pro1019Leu) http://identifiers.org/clinvar/195826 ^@ NM_005559.3(LAMA1):c.3391G>A (p.Glu1131Lys) http://identifiers.org/clinvar/195827 ^@ NM_001199397.1(NEK1):c.2251C>G (p.Gln751Glu) http://identifiers.org/clinvar/195828 ^@ NM_015102.4(NPHP4):c.3454C>T (p.Pro1152Ser) http://identifiers.org/clinvar/195829 ^@ NM_015192.3(PLCB1):c.2550G>T (p.Glu850Asp) http://identifiers.org/clinvar/195830 ^@ NM_015346.3(ZFYVE26):c.4737C>G (p.Ser1579Arg) http://identifiers.org/clinvar/195831 ^@ NM_015560.2(OPA1):c.2496+1G>T http://identifiers.org/clinvar/195832 ^@ NM_001134831.1(AHI1):c.3223G>A (p.Gly1075Arg) http://identifiers.org/clinvar/195833 ^@ NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) http://identifiers.org/clinvar/195834 ^@ NM_018979.3(WNK1):c.5734A>C (p.Ile1912Leu) http://identifiers.org/clinvar/195835 ^@ NM_020366.3(RPGRIP1):c.3749-2A>G http://identifiers.org/clinvar/195836 ^@ NM_025114.3(CEP290):c.2487A>G (p.Glu829=) http://identifiers.org/clinvar/195837 ^@ NM_033071.3(SYNE1):c.2903G>A (p.Arg968Gln) http://identifiers.org/clinvar/195838 ^@ NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) http://identifiers.org/clinvar/195839 ^@ NM_001267550.2(TTN):c.56854G>A (p.Gly18952Ser) http://identifiers.org/clinvar/195840 ^@ NM_003319.4(TTN):c.29655G>A (p.Val9885=) http://identifiers.org/clinvar/195841 ^@ NM_001267550.2(TTN):c.57076G>C (p.Glu19026Gln) http://identifiers.org/clinvar/195842 ^@ NM_001256850.1(TTN):c.52670A>G (p.Asn17557Ser) http://identifiers.org/clinvar/195843 ^@ NM_001256850.1(TTN):c.53440G>A (p.Gly17814Ser) http://identifiers.org/clinvar/195844 ^@ NM_001267550.2(TTN):c.58295G>A (p.Arg19432His) http://identifiers.org/clinvar/195845 ^@ NM_001256850.1(TTN):c.54393G>A (p.Pro18131=) http://identifiers.org/clinvar/195846 ^@ NM_000088.3(COL1A1):c.1767+2T>G http://identifiers.org/clinvar/195847 ^@ NM_000090.3(COL3A1):c.1815+5G>A http://identifiers.org/clinvar/195848 ^@ NM_000138.4(FBN1):c.2930T>G (p.Met977Arg) http://identifiers.org/clinvar/195849 ^@ NM_000254.2(MTR):c.2669_2670delTG (p.Val890Glyfs) http://identifiers.org/clinvar/195850 ^@ NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) http://identifiers.org/clinvar/195851 ^@ NM_000392.4(ABCC2):c.3542G>T (p.Arg1181Leu) http://identifiers.org/clinvar/195852 ^@ NM_000426.3(LAMA2):c.3645A>G (p.Pro1215=) http://identifiers.org/clinvar/195853 ^@ NM_000426.3(LAMA2):c.3585A>G (p.Leu1195=) http://identifiers.org/clinvar/195854 ^@ NM_018849.2(ABCB4):c.3230C>T (p.Thr1077Met) http://identifiers.org/clinvar/195855 ^@ NM_000445.4(PLEC):c.3111G>A (p.Pro1037=) http://identifiers.org/clinvar/195856 ^@ NM_000445.4(PLEC):c.3042C>T (p.Ser1014=) http://identifiers.org/clinvar/195857 ^@ NM_000445.4(PLEC):c.3059G>A (p.Arg1020Gln) http://identifiers.org/clinvar/195858 ^@ NM_000492.3(CFTR):c.3964-16T>C http://identifiers.org/clinvar/195859 ^@ NM_000495.4(COL4A5):c.1844G>A (p.Gly615Glu) http://identifiers.org/clinvar/195860 ^@ NM_000553.4(WRN):c.3091G>C (p.Val1031Leu) http://identifiers.org/clinvar/195861 ^@ NM_000642.2(AGL):c.3362+9G>A http://identifiers.org/clinvar/195862 ^@ NM_001083961.1(WDR62):c.2976G>A (p.Ser992=) http://identifiers.org/clinvar/195863 ^@ NM_006920.4(SCN1A):c.4549A>G (p.Asn1517Asp) http://identifiers.org/clinvar/195864 ^@ NM_020920.3(CHD8):c.4084+5G>A http://identifiers.org/clinvar/195865 ^@ NM_001297.4(CNGB1):c.2370-9C>T http://identifiers.org/clinvar/195866 ^@ NM_001110556.1(FLNA):c.4269_4277delCCTCAACGTinsTGGC (p.Leu1424Glyfs) http://identifiers.org/clinvar/195867 ^@ NM_001457.3(FLNB):c.4390+8T>A http://identifiers.org/clinvar/195868 ^@ NM_001845.5(COL4A1):c.1588C>T (p.Pro530Ser) http://identifiers.org/clinvar/195870 ^@ NM_001849.3(COL6A2):c.1932G>A (p.Arg644=) http://identifiers.org/clinvar/195871 ^@ NM_001849.3(COL6A2):c.1831T>C (p.Cys611Arg) http://identifiers.org/clinvar/195872 ^@ NM_001853.3(COL9A3):c.1288-5T>C http://identifiers.org/clinvar/195873 ^@ NM_001853.3(COL9A3):c.1304C>A (p.Ala435Glu) http://identifiers.org/clinvar/195874 ^@ NM_080629.2(COL11A1):c.2179-10dupT http://identifiers.org/clinvar/195875 ^@ NM_001014797.2(KCNMA1):c.3180+10C>T http://identifiers.org/clinvar/195876 ^@ NM_001040113.1(MYH11):c.3192A>T (p.Lys1064Asn) http://identifiers.org/clinvar/195877 ^@ NM_001042544.1(LTBP4):c.3330C>T (p.Val1110=) http://identifiers.org/clinvar/195878 ^@ NM_004006.2(DMD):c.3344T>C (p.Ile1115Thr) http://identifiers.org/clinvar/195879 ^@ NM_004187.3(KDM5C):c.4304G>A (p.Arg1435His) http://identifiers.org/clinvar/195880 ^@ NM_004380.2(CREBBP):c.4279A>G (p.Arg1427Gly) http://identifiers.org/clinvar/195881 ^@ NM_004380.2(CREBBP):c.4266C>A (p.Pro1422=) http://identifiers.org/clinvar/195882 ^@ NM_004543.4(NEB):c.2343G>A (p.Lys781=) http://identifiers.org/clinvar/195883 ^@ NM_005529.6(HSPG2):c.3269G>A (p.Arg1090Gln) http://identifiers.org/clinvar/195884 ^@ NM_006059.3(LAMC3):c.4092C>T (p.Ser1364=) http://identifiers.org/clinvar/195885 ^@ NM_006208.2(ENPP1):c.2657G>C (p.Arg886Thr) http://identifiers.org/clinvar/195886 ^@ NM_006662.2(SRCAP):c.5531C>G (p.Ser1844Cys) http://identifiers.org/clinvar/195887 ^@ NM_006662.2(SRCAP):c.5631C>G (p.Pro1877=) http://identifiers.org/clinvar/195888 ^@ NM_006662.2(SRCAP):c.4355C>T (p.Ser1452Leu) http://identifiers.org/clinvar/195889 ^@ NM_006662.2(SRCAP):c.4218A= (p.Ser1406=) http://identifiers.org/clinvar/195890 ^@ NM_006846.3(SPINK5):c.2441+7A>G http://identifiers.org/clinvar/195891 ^@ NM_006946.2(SPTBN2):c.5064G>A (p.Glu1688=) http://identifiers.org/clinvar/195892 ^@ NM_014714.3(IFT140):c.3210G>A (p.Ala1070=) http://identifiers.org/clinvar/195893 ^@ NM_014780.4(CUL7):c.4713C>T (p.Ile1571=) http://identifiers.org/clinvar/195894 ^@ NM_014780.4(CUL7):c.4717C>T (p.Arg1573Ter) http://identifiers.org/clinvar/195895 ^@ NM_014780.4(CUL7):c.4762C>A (p.Leu1588Ile) http://identifiers.org/clinvar/195896 ^@ NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) http://identifiers.org/clinvar/195897 ^@ NM_017534.5(MYH2):c.3181C>G (p.Leu1061Val) http://identifiers.org/clinvar/195898 ^@ NM_017534.5(MYH2):c.3127T>G (p.Ser1043Ala) http://identifiers.org/clinvar/195899 ^@ NM_017780.3(CHD7):c.5310T>C (p.Asp1770=) http://identifiers.org/clinvar/195900 ^@ NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) http://identifiers.org/clinvar/195901 ^@ NM_017890.4(VPS13B):c.3690T>C (p.Thr1230=) http://identifiers.org/clinvar/195902 ^@ NM_018136.4(ASPM):c.9830-8dupT http://identifiers.org/clinvar/195903 ^@ NM_021140.3(KDM6A):c.3678T>C (p.His1226=) http://identifiers.org/clinvar/195904 ^@ NM_023073.3(C5orf42):c.4388C>T (p.Thr1463Ile) http://identifiers.org/clinvar/195905 ^@ NM_023073.3(C5orf42):c.4190-10_4190-9delTT http://identifiers.org/clinvar/195906 ^@ NM_024408.3(NOTCH2):c.4041A>G (p.Gly1347=) http://identifiers.org/clinvar/195907 ^@ NM_024408.3(NOTCH2):c.4305G>A (p.Arg1435=) http://identifiers.org/clinvar/195908 ^@ NM_024753.4(TTC21B):c.3264-3C>G http://identifiers.org/clinvar/195909 ^@ NM_080680.2(COL11A2):c.2017-5T>G http://identifiers.org/clinvar/195910 ^@ NM_001267550.2(TTN):c.4362A>G (p.Leu1454=) http://identifiers.org/clinvar/195911 ^@ NM_138694.3(PKHD1):c.2715+7delG http://identifiers.org/clinvar/195912 ^@ NM_144966.5(FREM1):c.4367G>A (p.Ser1456Asn) http://identifiers.org/clinvar/195913 ^@ NM_173630.3(RTTN):c.3380dupA (p.Asn1127Lysfs) http://identifiers.org/clinvar/195914 ^@ NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala) http://identifiers.org/clinvar/195915 ^@ NM_000445.4(PLEC):c.3252G>A (p.Ser1084=) http://identifiers.org/clinvar/195916 ^@ NM_206933.2(USH2A):c.5167+1G>T http://identifiers.org/clinvar/195917 ^@ NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu) http://identifiers.org/clinvar/195918 ^@ NM_001267550.2(TTN):c.60342C>T (p.Thr20114=) http://identifiers.org/clinvar/195919 ^@ NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) http://identifiers.org/clinvar/195920 ^@ NM_001267550.2(TTN):c.60681dupT (p.Lys20228Terfs) http://identifiers.org/clinvar/195921 ^@ NM_133378.4(TTN):c.54576T>C (p.Val18192=) http://identifiers.org/clinvar/195922 ^@ NM_001267550.2(TTN):c.61447C>T (p.Arg20483Cys) http://identifiers.org/clinvar/195923 ^@ NM_001256850.1(TTN):c.58350T>C (p.Asp19450=) http://identifiers.org/clinvar/195924 ^@ NM_001267550.2(TTN):c.63613A>G (p.Lys21205Glu) http://identifiers.org/clinvar/195925 ^@ NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) http://identifiers.org/clinvar/195926 ^@ NM_000214.2(JAG1):c.3308C>T (p.Thr1103Ile) http://identifiers.org/clinvar/195928 ^@ NM_000257.3(MYH7):c.3667G>A (p.Glu1223Lys) http://identifiers.org/clinvar/195929 ^@ NM_000293.2(PHKB):c.2445T>C (p.Phe815=) http://identifiers.org/clinvar/195930 ^@ NM_000445.4(PLEC):c.3291G>A (p.Thr1097=) http://identifiers.org/clinvar/195931 ^@ NM_001145808.1(ITGAM):c.3002C>A (p.Thr1001Asn) http://identifiers.org/clinvar/195932 ^@ NM_000719.6(CACNA1C):c.3234C>T (p.Asp1078=) http://identifiers.org/clinvar/195933 ^@ NM_001080522.2(CC2D2A):c.3228G>A (p.Lys1076=) http://identifiers.org/clinvar/195934 ^@ NM_001099922.2(ALG13):c.2975G>A (p.Cys992Tyr) http://identifiers.org/clinvar/195935 ^@ NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) http://identifiers.org/clinvar/195936 ^@ NM_001142800.1(EYS):c.4350_4356delTATAGCT (p.Ile1451Profs) http://identifiers.org/clinvar/195937 ^@ NM_001142800.1(EYS):c.5510G>C (p.Trp1837Ser) http://identifiers.org/clinvar/195938 ^@ NM_001142800.1(EYS):c.4402G>C (p.Asp1468His) http://identifiers.org/clinvar/195939 ^@ NM_001142800.1(EYS):c.5644+5G>A http://identifiers.org/clinvar/195940 ^@ NM_006920.4(SCN1A):c.5356G>C (p.Ala1786Pro) http://identifiers.org/clinvar/195941 ^@ NM_006920.4(SCN1A):c.5400T>C (p.Val1800=) http://identifiers.org/clinvar/195942 ^@ NM_001165963.1(SCN1A):c.4945C>T (p.Leu1649=) http://identifiers.org/clinvar/195943 ^@ NM_001165963.1(SCN1A):c.5286A>G (p.Gly1762=) http://identifiers.org/clinvar/195944 ^@ NM_006920.4(SCN1A):c.5524G>C (p.Asp1842His) http://identifiers.org/clinvar/195945 ^@ NM_006920.4(SCN1A):c.5530C>T (p.Pro1844Ser) http://identifiers.org/clinvar/195946 ^@ NM_006920.4(SCN1A):c.5302A>G (p.Asn1768Asp) http://identifiers.org/clinvar/195947 ^@ NM_001297.4(CNGB1):c.2556dupC (p.Lys853Glnfs) http://identifiers.org/clinvar/195948 ^@ NM_001110556.1(FLNA):c.4420G>A (p.Asp1474Asn) http://identifiers.org/clinvar/195949 ^@ NM_001458.4(FLNC):c.4553A>G (p.Lys1518Arg) http://identifiers.org/clinvar/195950 ^@ NM_001845.5(COL4A1):c.1815T>C (p.Pro605=) http://identifiers.org/clinvar/195951 ^@ NM_001845.5(COL4A1):c.1897+7C>G http://identifiers.org/clinvar/195952 ^@ NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) http://identifiers.org/clinvar/195953 ^@ NM_001849.3(COL6A2):c.2116G>C (p.Ala706Pro) http://identifiers.org/clinvar/195954 ^@ NM_001849.3(COL6A2):c.2098G>A (p.Gly700Ser) http://identifiers.org/clinvar/195955 ^@ NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn) http://identifiers.org/clinvar/195956 ^@ NM_001849.3(COL6A2):c.2192C>T (p.Thr731Met) http://identifiers.org/clinvar/195957 ^@ NM_001851.4(COL9A1):c.1728T>G (p.Pro576=) http://identifiers.org/clinvar/195958 ^@ NM_002420.5(TRPM1):c.3505delG (p.Glu1169Argfs) http://identifiers.org/clinvar/195959 ^@ NM_002471.3(MYH6):c.3672C>G (p.Ser1224Arg) http://identifiers.org/clinvar/195960 ^@ NM_003482.3(KMT2D):c.5677C>T (p.Gln1893Ter) http://identifiers.org/clinvar/195961 ^@ NM_003494.3(DYSF):c.2671G>A (p.Val891Ile) http://identifiers.org/clinvar/195962 ^@ NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) http://identifiers.org/clinvar/195963 ^@ NM_003688.3(CASK):c.2506-11_2506-10insTT http://identifiers.org/clinvar/195964 ^@ NM_003742.2(ABCB11):c.3556G>A (p.Glu1186Lys) http://identifiers.org/clinvar/195965 ^@ NM_004006.2(DMD):c.3603+15dupA http://identifiers.org/clinvar/195966 ^@ NM_004006.2(DMD):c.3497_3500delTATC (p.Leu1166Glnfs) http://identifiers.org/clinvar/195967 ^@ NM_004006.2(DMD):c.3535G>T (p.Glu1179Ter) http://identifiers.org/clinvar/195968 ^@ NM_004187.3(KDM5C):c.4318-15T>G http://identifiers.org/clinvar/195969 ^@ NM_004187.3(KDM5C):c.4338C>T (p.His1446=) http://identifiers.org/clinvar/195970 ^@ NM_004369.3(COL6A3):c.6749C>T (p.Pro2250Leu) http://identifiers.org/clinvar/195971 ^@ NM_004380.2(CREBBP):c.4350C>T (p.Tyr1450=) http://identifiers.org/clinvar/195972 ^@ NM_001271208.1(NEB):c.2459T>G (p.Phe820Cys) http://identifiers.org/clinvar/195973 ^@ NM_005529.6(HSPG2):c.3336C>T (p.Pro1112=) http://identifiers.org/clinvar/195974 ^@ NM_006037.3(HDAC4):c.3159C>T (p.Ala1053=) http://identifiers.org/clinvar/195975 ^@ NM_015046.5(SETX):c.7834A>G (p.Ser2612Gly) http://identifiers.org/clinvar/195976 ^@ NM_015102.4(NPHP4):c.3575G>A (p.Arg1192Gln) http://identifiers.org/clinvar/195977 ^@ NM_001127897.3(RPGRIP1L):c.3475G>A (p.Val1159Met) http://identifiers.org/clinvar/195978 ^@ NM_017780.3(CHD7):c.5405-17G>A http://identifiers.org/clinvar/195979 ^@ NM_213655.4(WNK1):c.7380C>A (p.Ser2460Arg) http://identifiers.org/clinvar/195980 ^@ NM_020822.2(KCNT1):c.2944-26_2944-7del20 http://identifiers.org/clinvar/195981 ^@ NM_020822.2(KCNT1):c.2944-18_2944-7delCCCTCCCTCCCT http://identifiers.org/clinvar/195982 ^@ NM_020822.2(KCNT1):c.2994G>A (p.Leu998=) http://identifiers.org/clinvar/195983 ^@ NM_020822.2(KCNT1):c.2944-14_2944-7delCCCTCCCT http://identifiers.org/clinvar/195984 ^@ NM_020822.2(KCNT1):c.2944-10_2944-7delCCCT http://identifiers.org/clinvar/195985 ^@ NM_001291415.1(KDM6A):c.3893-6delT http://identifiers.org/clinvar/195986 ^@ NM_022124.5(CDH23):c.3010G>A (p.Val1004Met) http://identifiers.org/clinvar/195987 ^@ NM_024408.3(NOTCH2):c.4740G>A (p.Lys1580=) http://identifiers.org/clinvar/195989 ^@ NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) http://identifiers.org/clinvar/195990 ^@ NM_033071.3(SYNE1):c.3095A>T (p.Asp1032Val) http://identifiers.org/clinvar/195991 ^@ NM_052985.3(IFT122):c.3282C>T (p.Arg1094=) http://identifiers.org/clinvar/195992 ^@ NM_001267550.2(TTN):c.4592T>A (p.Val1531Asp) http://identifiers.org/clinvar/195993 ^@ NM_001267550.2(TTN):c.4645+8G>T http://identifiers.org/clinvar/195994 ^@ NM_144966.5(FREM1):c.4489A>T (p.Ile1497Phe) http://identifiers.org/clinvar/195995 ^@ NM_153240.4(NPHP3):c.3809T>C (p.Leu1270Pro) http://identifiers.org/clinvar/195996 ^@ NM_153240.4(NPHP3):c.3756C>G (p.Ser1252Arg) http://identifiers.org/clinvar/195997 ^@ NM_206933.2(USH2A):c.5265C>T (p.Phe1755=) http://identifiers.org/clinvar/195998 ^@ NM_001267550.2(TTN):c.65552C>T (p.Pro21851Leu) http://identifiers.org/clinvar/195999 ^@ NM_001267550.2(TTN):c.65783G>A (p.Arg21928Gln) http://identifiers.org/clinvar/196000 ^@ NM_001267550.2(TTN):c.65790C>A (p.Asp21930Glu) http://identifiers.org/clinvar/196001 ^@ NM_001267550.2(TTN):c.65867A>C (p.Lys21956Thr) http://identifiers.org/clinvar/196002 ^@ NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu) http://identifiers.org/clinvar/196003 ^@ NM_001267550.2(TTN):c.66442G>A (p.Ala22148Thr) http://identifiers.org/clinvar/196004 ^@ NM_001256850.1(TTN):c.61727T>G (p.Phe20576Cys) http://identifiers.org/clinvar/196005 ^@ NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) http://identifiers.org/clinvar/196006 ^@ NM_001267550.2(TTN):c.67309G>A (p.Gly22437Ser) http://identifiers.org/clinvar/196007 ^@ NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) http://identifiers.org/clinvar/196008 ^@ NM_000257.3(MYH7):c.3779G>C (p.Arg1260Pro) http://identifiers.org/clinvar/196009 ^@ NM_001080463.1(DYNC2H1):c.4238A>G (p.Lys1413Arg) http://identifiers.org/clinvar/196010 ^@ NM_001080463.1(DYNC2H1):c.4192A>C (p.Arg1398=) http://identifiers.org/clinvar/196011 ^@ NM_001083961.1(WDR62):c.3271_3273delCAC (p.His1091del) http://identifiers.org/clinvar/196012 ^@ NM_001083961.1(WDR62):c.3232G>A (p.Ala1078Thr) http://identifiers.org/clinvar/196013 ^@ NM_020920.3(CHD8):c.4290+1G>A http://identifiers.org/clinvar/196014 ^@ NM_001297.4(CNGB1):c.2656G>A (p.Ala886Thr) http://identifiers.org/clinvar/196015 ^@ NM_001458.4(FLNC):c.4737+9_4737+10del http://identifiers.org/clinvar/196016 ^@ NM_001844.4(COL2A1):c.1799G>T (p.Gly600Val) http://identifiers.org/clinvar/196017 ^@ NM_001014797.2(KCNMA1):c.3344C>T (p.Thr1115Met) http://identifiers.org/clinvar/196018 ^@ NM_002420.5(TRPM1):c.4433C>T (p.Thr1478Met) http://identifiers.org/clinvar/196019 ^@ NM_002474.2(MYH11):c.3651+5T>G http://identifiers.org/clinvar/196020 ^@ NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) http://identifiers.org/clinvar/196021 ^@ NM_002977.3(SCN9A):c.5202C>A (p.Ile1734=) http://identifiers.org/clinvar/196022 ^@ NM_003494.3(DYSF):c.2902A>T (p.Met968Leu) http://identifiers.org/clinvar/196024 ^@ NM_004006.2(DMD):c.3696A>C (p.Ala1232=) http://identifiers.org/clinvar/196025 ^@ NM_004380.2(CREBBP):c.4494A>G (p.Arg1498=) http://identifiers.org/clinvar/196026 ^@ NM_005045.3(RELN):c.3805T>C (p.Phe1269Leu) http://identifiers.org/clinvar/196027 ^@ NM_005045.3(RELN):c.3712A>C (p.Asn1238His) http://identifiers.org/clinvar/196028 ^@ NM_006420.2(ARFGEF2):c.3624C>G (p.Ala1208=) http://identifiers.org/clinvar/196029 ^@ NM_014191.3(SCN8A):c.5152C>T (p.Pro1718Ser) http://identifiers.org/clinvar/196030 ^@ NM_014191.3(SCN8A):c.*3_*5delGAG http://identifiers.org/clinvar/196031 ^@ NM_014846.3(WASHC5):c.3296T>C (p.Ile1099Thr) http://identifiers.org/clinvar/196032 ^@ NM_015102.4(NPHP4):c.3674C>T (p.Thr1225Met) http://identifiers.org/clinvar/196033 ^@ NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) http://identifiers.org/clinvar/196034 ^@ NM_017534.5(MYH2):c.3384C>T (p.Ile1128=) http://identifiers.org/clinvar/196035 ^@ NM_017534.5(MYH2):c.3432C>T (p.Asp1144=) http://identifiers.org/clinvar/196036 ^@ NM_017651.4(AHI1):c.3579T>C (p.Thr1193=) http://identifiers.org/clinvar/196037 ^@ NM_018136.4(ASPM):c.10295T>A (p.Ile3432Asn) http://identifiers.org/clinvar/196038 ^@ NM_021007.2(SCN2A):c.5505C>T (p.Asn1835=) http://identifiers.org/clinvar/196039 ^@ NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln) http://identifiers.org/clinvar/196040 ^@ NM_022124.5(CDH23):c.3172C>G (p.Leu1058Val) http://identifiers.org/clinvar/196041 ^@ NM_025074.6(FRAS1):c.3312T>C (p.Ser1104=) http://identifiers.org/clinvar/196042 ^@ NM_025074.6(FRAS1):c.3406G>A (p.Glu1136Lys) http://identifiers.org/clinvar/196043 ^@ NM_025074.6(FRAS1):c.3370dupT (p.Ser1124Phefs) http://identifiers.org/clinvar/196044 ^@ NM_033056.3(PCDH15):c.3596C>T (p.Thr1199Ile) http://identifiers.org/clinvar/196045 ^@ NM_033056.3(PCDH15):c.3717+8G>C http://identifiers.org/clinvar/196046 ^@ NM_033056.3(PCDH15):c.3717+10T>C http://identifiers.org/clinvar/196047 ^@ NM_033071.3(SYNE1):c.3209T>C (p.Val1070Ala) http://identifiers.org/clinvar/196048 ^@ NM_052985.3(IFT122):c.3397A>G (p.Ile1133Val) http://identifiers.org/clinvar/196049 ^@ NM_080680.2(COL11A2):c.2169+5C>T http://identifiers.org/clinvar/196050 ^@ NM_015384.4(NIPBL):c.5249A>G (p.Tyr1750Cys) http://identifiers.org/clinvar/196051 ^@ NM_138694.3(PKHD1):c.3084A>G (p.Arg1028=) http://identifiers.org/clinvar/196052 ^@ NM_138694.3(PKHD1):c.2854G>A (p.Gly952Arg) http://identifiers.org/clinvar/196053 ^@ NM_138694.3(PKHD1):c.2971G>A (p.Gly991Arg) http://identifiers.org/clinvar/196054 ^@ NM_144612.6(LOXHD1):c.4148C>G (p.Thr1383Arg) http://identifiers.org/clinvar/196055 ^@ NM_001267550.2(TTN):c.69124G>T (p.Gly23042Cys) http://identifiers.org/clinvar/196056 ^@ NM_001256850.1(TTN):c.64460C>A (p.Ser21487Tyr) http://identifiers.org/clinvar/196057 ^@ NM_001267550.2(TTN):c.69094C>T (p.His23032Tyr) http://identifiers.org/clinvar/196058 ^@ NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) http://identifiers.org/clinvar/196059 ^@ NM_001267550.2(TTN):c.73940G>A (p.Arg24647Gln) http://identifiers.org/clinvar/196060 ^@ NM_001256850.1(TTN):c.78593G>A (p.Arg26198Gln) http://identifiers.org/clinvar/196062 ^@ NM_001267550.2(TTN):c.70843G>A (p.Ala23615Thr) http://identifiers.org/clinvar/196063 ^@ NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) http://identifiers.org/clinvar/196064 ^@ NM_001267550.2(TTN):c.70409A>G (p.Tyr23470Cys) http://identifiers.org/clinvar/196065 ^@ NM_001256850.1(TTN):c.67843A>G (p.Asn22615Asp) http://identifiers.org/clinvar/196066 ^@ NM_001256850.1(TTN):c.76549C>G (p.Pro25517Ala) http://identifiers.org/clinvar/196067 ^@ NM_001267550.2(TTN):c.80876G>A (p.Gly26959Asp) http://identifiers.org/clinvar/196068 ^@ NM_001256850.1(TTN):c.78392A>T (p.Asn26131Ile) http://identifiers.org/clinvar/196069 ^@ NM_001267550.2(TTN):c.86524G>A (p.Val28842Ile) http://identifiers.org/clinvar/196070 ^@ NM_133378.4(TTN):c.73150G>A (p.Val24384Ile) http://identifiers.org/clinvar/196071 ^@ NM_001256850.1(TTN):c.79543G>C (p.Gly26515Arg) http://identifiers.org/clinvar/196072 ^@ NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) http://identifiers.org/clinvar/196073 ^@ NM_001267550.2(TTN):c.85382A>G (p.Asn28461Ser) http://identifiers.org/clinvar/196074 ^@ NM_001267550.2(TTN):c.78244T>G (p.Cys26082Gly) http://identifiers.org/clinvar/196075 ^@ NM_001267550.2(TTN):c.70396C>T (p.Arg23466Cys) http://identifiers.org/clinvar/196076 ^@ NM_001256850.1(TTN):c.81129T>C (p.Thr27043=) http://identifiers.org/clinvar/196077 ^@ NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) http://identifiers.org/clinvar/196078 ^@ NM_001267550.2(TTN):c.83912C>T (p.Thr27971Ile) http://identifiers.org/clinvar/196079 ^@ NM_001267550.2(TTN):c.77732C>A (p.Ser25911Tyr) http://identifiers.org/clinvar/196080 ^@ NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) http://identifiers.org/clinvar/196081 ^@ NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter) http://identifiers.org/clinvar/196082 ^@ NM_001256850.1(TTN):c.65174T>C (p.Val21725Ala) http://identifiers.org/clinvar/196083 ^@ NM_001267550.2(TTN):c.77706C>T (p.Asp25902=) http://identifiers.org/clinvar/196084 ^@ NM_001267550.2(TTN):c.86809G>A (p.Val28937Ile) http://identifiers.org/clinvar/196085 ^@ NM_001267550.2(TTN):c.81928T>C (p.Ser27310Pro) http://identifiers.org/clinvar/196086 ^@ NM_001267550.2(TTN):c.79225C>T (p.Arg26409Cys) http://identifiers.org/clinvar/196087 ^@ NM_001267550.2(TTN):c.83659C>T (p.Pro27887Ser) http://identifiers.org/clinvar/196088 ^@ NM_001267550.2(TTN):c.73914G>A (p.Glu24638=) http://identifiers.org/clinvar/196089 ^@ NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) http://identifiers.org/clinvar/196090 ^@ NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) http://identifiers.org/clinvar/196091 ^@ NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) http://identifiers.org/clinvar/196092 ^@ NM_001267550.2(TTN):c.73873T>C (p.Leu24625=) http://identifiers.org/clinvar/196093 ^@ NM_001267550.2(TTN):c.82544_82545insTTAG (p.Arg27515Serfs) http://identifiers.org/clinvar/196094 ^@ NM_133378.4(TTN):c.65600G>A (p.Arg21867His) http://identifiers.org/clinvar/196095 ^@ NM_001267550.2(TTN):c.87116T>C (p.Leu29039Pro) http://identifiers.org/clinvar/196096 ^@ NM_001267550.2(TTN):c.88106G>T (p.Gly29369Val) http://identifiers.org/clinvar/196097 ^@ NM_001267550.2(TTN):c.88248T>C (p.Val29416=) http://identifiers.org/clinvar/196098 ^@ NM_001267550.2(TTN):c.88107C>G (p.Gly29369=) http://identifiers.org/clinvar/196099 ^@ NM_000260.3(MYO7A):c.3527G>A (p.Ser1176Asn) http://identifiers.org/clinvar/196100 ^@ NM_000293.2(PHKB):c.2766-7G>A http://identifiers.org/clinvar/196101 ^@ NM_000392.4(ABCC2):c.3972C>T (p.Ile1324=) http://identifiers.org/clinvar/196102 ^@ NM_000392.4(ABCC2):c.3872C>T (p.Pro1291Leu) http://identifiers.org/clinvar/196103 ^@ NM_000445.4(PLEC):c.3827_3828delGGinsAA (p.Arg1276Gln) http://identifiers.org/clinvar/196104 ^@ NM_000445.4(PLEC):c.3826C>A (p.Arg1276=) http://identifiers.org/clinvar/196105 ^@ NM_000445.4(PLEC):c.3812T>G (p.Val1271Gly) http://identifiers.org/clinvar/196106 ^@ NM_000445.4(PLEC):c.3701G>T (p.Arg1234Leu) http://identifiers.org/clinvar/196107 ^@ NM_000540.2(RYR1):c.4076delG (p.Gly1359Alafs) http://identifiers.org/clinvar/196108 ^@ NM_000540.2(RYR1):c.4113G>C (p.Arg1371Ser) http://identifiers.org/clinvar/196109 ^@ NM_000552.4(VWF):c.5044C>T (p.Pro1682Ser) http://identifiers.org/clinvar/196110 ^@ NM_001035.2(RYR2):c.3356G>A (p.Arg1119His) http://identifiers.org/clinvar/196111 ^@ NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) http://identifiers.org/clinvar/196112 ^@ NM_001844.4(COL2A1):c.1861G>A (p.Gly621Arg) http://identifiers.org/clinvar/196113 ^@ NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) http://identifiers.org/clinvar/196114 ^@ NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) http://identifiers.org/clinvar/196115 ^@ NM_001849.3(COL6A2):c.2796G>A (p.Pro932=) http://identifiers.org/clinvar/196116 ^@ NM_001849.3(COL6A2):c.2871G>A (p.Leu957=) http://identifiers.org/clinvar/196117 ^@ NM_001849.3(COL6A2):c.2751G>T (p.Val917=) http://identifiers.org/clinvar/196118 ^@ NM_001849.3(COL6A2):c.2462-5dupC http://identifiers.org/clinvar/196119 ^@ NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) http://identifiers.org/clinvar/196120 ^@ NM_001849.3(COL6A2):c.2944A>G (p.Met982Val) http://identifiers.org/clinvar/196121 ^@ NM_001849.3(COL6A2):c.2679G>A (p.Pro893=) http://identifiers.org/clinvar/196122 ^@ NM_001849.3(COL6A2):c.2850C>T (p.Gly950=) http://identifiers.org/clinvar/196123 ^@ NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr) http://identifiers.org/clinvar/196124 ^@ NM_002334.3(LRP4):c.3980G>A (p.Arg1327Gln) http://identifiers.org/clinvar/196125 ^@ NM_003494.3(DYSF):c.3011A>G (p.Asn1004Ser) http://identifiers.org/clinvar/196126 ^@ NM_004006.2(DMD):c.3838A>T (p.Lys1280Ter) http://identifiers.org/clinvar/196127 ^@ NM_004006.2(DMD):c.3816G>C (p.Leu1272Phe) http://identifiers.org/clinvar/196128 ^@ NM_004082.4(DCTN1):c.3250C>T (p.Pro1084Ser) http://identifiers.org/clinvar/196129 ^@ NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) http://identifiers.org/clinvar/196130 ^@ NM_004369.3(COL6A3):c.6817-5T>C http://identifiers.org/clinvar/196131 ^@ NM_005603.4(ATP8B1):c.*10C>T http://identifiers.org/clinvar/196132 ^@ NM_006445.3(PRPF8):c.4467C>T (p.Leu1489=) http://identifiers.org/clinvar/196133 ^@ NM_006726.4(LRBA):c.4569+9C>T http://identifiers.org/clinvar/196134 ^@ NM_014014.4(SNRNP200):c.3654C>T (p.Ser1218=) http://identifiers.org/clinvar/196135 ^@ NM_014639.3(TTC37):c.2808G>A (p.Trp936Ter) http://identifiers.org/clinvar/196136 ^@ NM_014714.3(IFT140):c.3675G>T (p.Leu1225=) http://identifiers.org/clinvar/196137 ^@ NM_015102.4(NPHP4):c.3927C>T (p.Asp1309=) http://identifiers.org/clinvar/196138 ^@ NM_015102.4(NPHP4):c.3911A>G (p.His1304Arg) http://identifiers.org/clinvar/196139 ^@ NM_182734.2(PLCB1):c.3135C>T (p.Val1045=) http://identifiers.org/clinvar/196140 ^@ NM_017617.4(NOTCH1):c.5168-10G>A http://identifiers.org/clinvar/196141 ^@ NM_032119.3(ADGRV1):c.5953A>C (p.Asn1985His) http://identifiers.org/clinvar/196142 ^@ NM_053025.3(MYLK):c.4764G>A (p.Pro1588=) http://identifiers.org/clinvar/196143 ^@ NM_003319.4(TTN):c.4714G>T (p.Asp1572Tyr) http://identifiers.org/clinvar/196144 ^@ NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) http://identifiers.org/clinvar/196145 ^@ NM_138694.3(PKHD1):c.3122G>A (p.Gly1041Asp) http://identifiers.org/clinvar/196146 ^@ NM_172364.4(CACNA2D4):c.2649C>T (p.Cys883=) http://identifiers.org/clinvar/196147 ^@ NM_000335.4(SCN5A):c.5433G>A (p.Ser1811=) http://identifiers.org/clinvar/196148 ^@ NM_000445.4(PLEC):c.3859C>G (p.Arg1287Gly) http://identifiers.org/clinvar/196149 ^@ NM_001267550.2(TTN):c.88594+1G>T http://identifiers.org/clinvar/196150 ^@ NM_001256850.1(TTN):c.83762G>A (p.Gly27921Asp) http://identifiers.org/clinvar/196151 ^@ NM_001267550.2(TTN):c.88979_88985delATGGCGG (p.Asp29660Valfs) http://identifiers.org/clinvar/196152 ^@ NM_001267550.2(TTN):c.90764_90766delGAG (p.Gly30255del) http://identifiers.org/clinvar/196153 ^@ NM_001267550.2(TTN):c.91192C>T (p.Arg30398Cys) http://identifiers.org/clinvar/196154 ^@ NM_133378.4(TTN):c.82280T>C (p.Ile27427Thr) http://identifiers.org/clinvar/196155 ^@ NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) http://identifiers.org/clinvar/196156 ^@ NM_001256850.1(TTN):c.86666C>T (p.Pro28889Leu) http://identifiers.org/clinvar/196157 ^@ NM_001267550.2(TTN):c.93237C>G (p.Asp31079Glu) http://identifiers.org/clinvar/196158 ^@ NM_000089.3(COL1A2):c.1694G>C (p.Gly565Ala) http://identifiers.org/clinvar/196159 ^@ NM_000138.4(FBN1):c.3464-6C>T http://identifiers.org/clinvar/196160 ^@ NM_000392.4(ABCC2):c.4075A>C (p.Ile1359Leu) http://identifiers.org/clinvar/196161 ^@ NM_000393.4(COL5A2):c.1924-3T>A http://identifiers.org/clinvar/196162 ^@ NM_000489.4(ATRX):c.6405C>T (p.Phe2135=) http://identifiers.org/clinvar/196163 ^@ NM_001080463.1(DYNC2H1):c.4386C>T (p.Asn1462=) http://identifiers.org/clinvar/196164 ^@ NM_020920.3(CHD8):c.4509A>G (p.Ala1503=) http://identifiers.org/clinvar/196165 ^@ NM_020920.3(CHD8):c.4553+10A>T http://identifiers.org/clinvar/196167 ^@ NM_001458.4(FLNC):c.4928-7T>C http://identifiers.org/clinvar/196168 ^@ NM_001844.4(COL2A1):c.1924G>T (p.Gly642Ter) http://identifiers.org/clinvar/196169 ^@ NM_001852.3(COL9A2):c.1576G>A (p.Val526Met) http://identifiers.org/clinvar/196170 ^@ NM_001852.3(COL9A2):c.1564G>C (p.Asp522His) http://identifiers.org/clinvar/196171 ^@ NM_001852.3(COL9A2):c.1551C>T (p.Gly517=) http://identifiers.org/clinvar/196172 ^@ NM_001853.3(COL9A3):c.1602C>T (p.Ser534=) http://identifiers.org/clinvar/196173 ^@ NM_002471.3(MYH6):c.3979-8C>T http://identifiers.org/clinvar/196174 ^@ NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) http://identifiers.org/clinvar/196175 ^@ NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys) http://identifiers.org/clinvar/196176 ^@ NM_003494.3(DYSF):c.3032-9C>T http://identifiers.org/clinvar/196177 ^@ NM_004380.2(CREBBP):c.4729-14G>A http://identifiers.org/clinvar/196178 ^@ NM_014714.3(IFT140):c.4040+10C>T http://identifiers.org/clinvar/196179 ^@ NM_014714.3(IFT140):c.3988G>A (p.Ala1330Thr) http://identifiers.org/clinvar/196180 ^@ NM_014714.3(IFT140):c.3991C>T (p.Gln1331Ter) http://identifiers.org/clinvar/196181 ^@ NM_017780.3(CHD7):c.5848G>A (p.Ala1950Thr) http://identifiers.org/clinvar/196182 ^@ NM_017890.4(VPS13B):c.4645G>T (p.Val1549Phe) http://identifiers.org/clinvar/196183 ^@ NM_017890.4(VPS13B):c.4697C>T (p.Pro1566Leu) http://identifiers.org/clinvar/196184 ^@ NM_020822.2(KCNT1):c.3178-7_3178-3delTGCCC http://identifiers.org/clinvar/196185 ^@ NM_020822.2(KCNT1):c.3178-7_3178-3dupTGCCC http://identifiers.org/clinvar/196186 ^@ NM_023073.3(C5orf42):c.5738-6C>T http://identifiers.org/clinvar/196187 ^@ NM_025074.6(FRAS1):c.3786T>A (p.His1262Gln) http://identifiers.org/clinvar/196188 ^@ NM_031407.6(HUWE1):c.3082A>G (p.Thr1028Ala) http://identifiers.org/clinvar/196189 ^@ NM_033071.3(SYNE1):c.3557A>C (p.Glu1186Ala) http://identifiers.org/clinvar/196190 ^@ NM_138694.3(PKHD1):c.3242G>A (p.Arg1081His) http://identifiers.org/clinvar/196191 ^@ NM_182914.2(SYNE2):c.3645A>C (p.Glu1215Asp) http://identifiers.org/clinvar/196192 ^@ NM_194248.2(OTOF):c.3694C>T (p.Arg1232Trp) http://identifiers.org/clinvar/196193 ^@ NM_001267550.2(TTN):c.94663C>T (p.Arg31555Cys) http://identifiers.org/clinvar/196194 ^@ NM_001267550.2(TTN):c.94980A>G (p.Glu31660=) http://identifiers.org/clinvar/196195 ^@ NM_133378.4(TTN):c.87541G>A (p.Glu29181Lys) http://identifiers.org/clinvar/196196 ^@ NM_001256850.1(TTN):c.91312G>A (p.Asp30438Asn) http://identifiers.org/clinvar/196197 ^@ NM_000017.3(ACADS):c.360C>T (p.Asn120=) http://identifiers.org/clinvar/196198 ^@ NM_000019.3(ACAT1):c.203G>T (p.Gly68Val) http://identifiers.org/clinvar/196199 ^@ NM_000023.3(SGCA):c.230G>A (p.Arg77His) http://identifiers.org/clinvar/196200 ^@ NM_000033.3(ABCD1):c.1117_1119delAAG (p.Lys373del) http://identifiers.org/clinvar/196201 ^@ NM_000035.3(ALDOB):c.324+8C>G http://identifiers.org/clinvar/196203 ^@ NM_000060.4(BTD):c.399G>A (p.Pro133=) http://identifiers.org/clinvar/196204 ^@ NM_000071.2(CBS):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/196205 ^@ NM_000089.3(COL1A2):c.87T>C (p.Thr29=) http://identifiers.org/clinvar/196206 ^@ NM_000089.3(COL1A2):c.82-12A>G http://identifiers.org/clinvar/196207 ^@ NM_000101.3(CYBA):c.203+8T>C http://identifiers.org/clinvar/196208 ^@ NM_000104.3(CYP1B1):c.1290C>G (p.Asp430Glu) http://identifiers.org/clinvar/196209 ^@ NM_000112.3(SLC26A2):c.1721T>C (p.Ile574Thr) http://identifiers.org/clinvar/196210 ^@ NM_000112.3(SLC26A2):c.1462A>G (p.Ile488Val) http://identifiers.org/clinvar/196211 ^@ NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) http://identifiers.org/clinvar/196212 ^@ NM_000112.3(SLC26A2):c.1178G>A (p.Gly393Asp) http://identifiers.org/clinvar/196213 ^@ NM_000124.3(ERCC6):c.528A>G (p.Arg176=) http://identifiers.org/clinvar/196214 ^@ NM_000127.2(EXT1):c.1138A>T (p.Ile380Leu) http://identifiers.org/clinvar/196215 ^@ NM_000127.2(EXT1):c.1065C>T (p.Cys355=) http://identifiers.org/clinvar/196216 ^@ NM_000137.2(FAH):c.243G>A (p.Ala81=) http://identifiers.org/clinvar/196217 ^@ NM_000141.4(FGFR2):c.294G>A (p.Thr98=) http://identifiers.org/clinvar/196218 ^@ NM_000141.4(FGFR2):c.159G>A (p.Ala53=) http://identifiers.org/clinvar/196219 ^@ NM_000142.4(FGFR3):c.252G>A (p.Ser84=) http://identifiers.org/clinvar/196220 ^@ NM_000142.4(FGFR3):c.348C>T (p.Arg116=) http://identifiers.org/clinvar/196222 ^@ NM_000152.4(GAA):c.688G>A (p.Val230Met) http://identifiers.org/clinvar/196223 ^@ NM_000152.4(GAA):c.615G>A (p.Pro205=) http://identifiers.org/clinvar/196224 ^@ NM_000154.1(GALK1):c.382G>A (p.Val128Met) http://identifiers.org/clinvar/196225 ^@ NM_000169.2(GLA):c.469C>T (p.Gln157Ter) http://identifiers.org/clinvar/196226 ^@ NM_000169.2(GLA):c.485G>A (p.Trp162Ter) http://identifiers.org/clinvar/196227 ^@ NM_000174.4(GP9):c.466G>A (p.Ala156Thr) http://identifiers.org/clinvar/196228 ^@ NM_000193.3(SHH):c.897G>C (p.Leu299=) http://identifiers.org/clinvar/196229 ^@ NM_000193.3(SHH):c.853C>T (p.Pro285Ser) http://identifiers.org/clinvar/196230 ^@ NM_000193.3(SHH):c.1078C>T (p.Leu360=) http://identifiers.org/clinvar/196231 ^@ NM_000193.3(SHH):c.1102G>A (p.Glu368Lys) http://identifiers.org/clinvar/196233 ^@ NM_000202.7(IDS):c.396G>A (p.Ser132=) http://identifiers.org/clinvar/196234 ^@ NM_000202.7(IDS):c.317_318insTCAA (p.Ser107Glnfs) http://identifiers.org/clinvar/196235 ^@ NM_000203.4(IDUA):c.367G>A (p.Glu123Lys) http://identifiers.org/clinvar/196236 ^@ NM_000208.3(INSR):c.653-5_653-4del http://identifiers.org/clinvar/196237 ^@ NM_000232.4(SGCB):c.429+5G>A http://identifiers.org/clinvar/196238 ^@ NM_000235.3(LIPA):c.112-6C>T http://identifiers.org/clinvar/196239 ^@ NM_000255.3(MUT):c.393G>A (p.Gln131=) http://identifiers.org/clinvar/196240 ^@ NM_000260.3(MYO7A):c.39C>A (p.Asp13Glu) http://identifiers.org/clinvar/196241 ^@ NM_000261.1(MYOC):c.855G>T (p.Thr285=) http://identifiers.org/clinvar/196242 ^@ NM_000262.2(NAGA):c.279G>A (p.Pro93=) http://identifiers.org/clinvar/196243 ^@ NM_000266.3(NDP):c.365A>G (p.Tyr122Cys) http://identifiers.org/clinvar/196244 ^@ NM_000282.3(PCCA):c.184-17_184-16delGT http://identifiers.org/clinvar/196245 ^@ NM_000282.3(PCCA):c.223G>C (p.Ala75Pro) http://identifiers.org/clinvar/196246 ^@ NM_000286.2(PEX12):c.931C>T (p.Arg311Trp) http://identifiers.org/clinvar/196247 ^@ NM_000302.3(PLOD1):c.295G>A (p.Ala99Thr) http://identifiers.org/clinvar/196249 ^@ NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) http://identifiers.org/clinvar/196250 ^@ NM_000314.6(PTEN):c.208C>T (p.Leu70Phe) http://identifiers.org/clinvar/196251 ^@ NM_000321.2(RB1):c.297G>A (p.Trp99Ter) http://identifiers.org/clinvar/196252 ^@ NM_000327.3(ROM1):c.868delC (p.Gln290Lysfs) http://identifiers.org/clinvar/196253 ^@ NM_000327.3(ROM1):c.940G>A (p.Gly314Arg) http://identifiers.org/clinvar/196254 ^@ NM_000329.2(RPE65):c.168A>G (p.Pro56=) http://identifiers.org/clinvar/196255 ^@ NM_000337.5(SGCD):c.92G>A (p.Arg31Gln) http://identifiers.org/clinvar/196256 ^@ NM_000337.5(SGCD):c.32G>A (p.Arg11Gln) http://identifiers.org/clinvar/196257 ^@ NM_000346.3(SOX9):c.1113G>A (p.Ala371=) http://identifiers.org/clinvar/196258 ^@ NM_000372.4(TYR):c.1067A>T (p.Asp356Val) http://identifiers.org/clinvar/196259 ^@ NM_000377.2(WAS):c.285G>A (p.Leu95=) http://identifiers.org/clinvar/196260 ^@ NM_033290.3(MID1):c.661-8_661-7dupTT http://identifiers.org/clinvar/196261 ^@ NM_033290.3(MID1):c.661-7dupT http://identifiers.org/clinvar/196262 ^@ NM_000388.3(CASR):c.748G>A (p.Glu250Lys) http://identifiers.org/clinvar/196263 ^@ NM_000391.3(TPP1):c.118C>T (p.Arg40Cys) http://identifiers.org/clinvar/196264 ^@ NM_000392.4(ABCC2):c.258A>G (p.Val86=) http://identifiers.org/clinvar/196265 ^@ NM_001008216.1(GALE):c.49C>T (p.His17Tyr) http://identifiers.org/clinvar/196266 ^@ NM_000403.3(GALE):c.95_97delTCG (p.Ile32_Asp33delinsAsn) http://identifiers.org/clinvar/196267 ^@ NM_000409.4(GUCA1A):c.9C>T (p.Asn3=) http://identifiers.org/clinvar/196268 ^@ NM_000409.4(GUCA1A):c.152C>T (p.Ser51Leu) http://identifiers.org/clinvar/196269 ^@ NM_000414.3(HSD17B4):c.175G>A (p.Val59Ile) http://identifiers.org/clinvar/196270 ^@ NM_000426.3(LAMA2):c.284-4A>G http://identifiers.org/clinvar/196271 ^@ NM_000430.3(PAFAH1B1):c.112G>A (p.Asp38Asn) http://identifiers.org/clinvar/196272 ^@ NM_000440.2(PDE6A):c.713G>A (p.Gly238Asp) http://identifiers.org/clinvar/196273 ^@ NM_018849.2(ABCB4):c.101C>T (p.Thr34Met) http://identifiers.org/clinvar/196274 ^@ NM_000445.4(PLEC):c.255+10G>A http://identifiers.org/clinvar/196275 ^@ NM_000487.5(ARSA):c.640G>A (p.Ala214Thr) http://identifiers.org/clinvar/196276 ^@ NM_000487.5(ARSA):c.656G>A (p.Arg219His) http://identifiers.org/clinvar/196277 ^@ NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) http://identifiers.org/clinvar/196278 ^@ NM_000500.7(CYP21A2):c.293-13C>A http://identifiers.org/clinvar/196279 ^@ NM_000512.4(GALNS):c.319+15G>T http://identifiers.org/clinvar/196280 ^@ NM_000514.3(GDNF):c.540A>G (p.Arg180=) http://identifiers.org/clinvar/196281 ^@ NM_000528.3(MAN2B1):c.295T>C (p.Tyr99His) http://identifiers.org/clinvar/196282 ^@ NM_000539.3(RHO):c.541G>A (p.Glu181Lys) http://identifiers.org/clinvar/196283 ^@ NM_000541.4(SAG):c.102C>G (p.Asp34Glu) http://identifiers.org/clinvar/196284 ^@ NM_000551.3(VHL):c.586A>T (p.Lys196Ter) http://identifiers.org/clinvar/196285 ^@ NM_000601.5(HGF):c.270T>C (p.Asp90=) http://identifiers.org/clinvar/196286 ^@ NM_000642.2(AGL):c.256C>T (p.Gln86Ter) http://identifiers.org/clinvar/196287 ^@ NM_000742.3(CHRNA2):c.227C>T (p.Pro76Leu) http://identifiers.org/clinvar/196288 ^@ NM_000784.3(CYP27A1):c.646+4C>T http://identifiers.org/clinvar/196289 ^@ NM_000806.5(GABRA1):c.27C>A (p.Asp9Glu) http://identifiers.org/clinvar/196290 ^@ NM_001003722.1(GLE1):c.394G>A (p.Val132Ile) http://identifiers.org/clinvar/196291 ^@ NM_001004127.2(ALG11):c.323A>G (p.Asn108Ser) http://identifiers.org/clinvar/196292 ^@ NM_001004127.2(ALG11):c.802C>A (p.Leu268Ile) http://identifiers.org/clinvar/196293 ^@ NM_001004334.3(GPR179):c.959G>A (p.Arg320Gln) http://identifiers.org/clinvar/196294 ^@ NM_001004334.3(GPR179):c.909C= (p.Val303=) http://identifiers.org/clinvar/196296 ^@ NM_001005741.2(GBA):c.38A>G (p.Lys13Arg) http://identifiers.org/clinvar/196297 ^@ NM_001015880.1(PAPSS2):c.202T>C (p.Ser68Pro) http://identifiers.org/clinvar/196298 ^@ NM_001017420.2(ESCO2):c.147C>G (p.Cys49Trp) http://identifiers.org/clinvar/196299 ^@ NM_001017420.2(ESCO2):c.331A>G (p.Lys111Glu) http://identifiers.org/clinvar/196300 ^@ NM_001017420.2(ESCO2):c.764T>C (p.Phe255Ser) http://identifiers.org/clinvar/196301 ^@ NM_001024630.3(RUNX2):c.240G>A (p.Ala80=) http://identifiers.org/clinvar/196302 ^@ NM_001024630.3(RUNX2):c.193_213del21 (p.Gln65_Gln71del) http://identifiers.org/clinvar/196303 ^@ NM_001037.4(SCN1B):c.347delC (p.Ser116Trpfs) http://identifiers.org/clinvar/196304 ^@ NM_001038.5(SCNN1A):c.540G>T (p.Leu180=) http://identifiers.org/clinvar/196305 ^@ NM_001038.5(SCNN1A):c.541C>T (p.Arg181Trp) http://identifiers.org/clinvar/196306 ^@ NM_001039213.3(CEACAM16):c.51T>C (p.Asn17=) http://identifiers.org/clinvar/196307 ^@ NM_001044385.2(TMEM237):c.75-13T>C http://identifiers.org/clinvar/196308 ^@ NM_001130966.2(TBXAS1):c.211C>T (p.Leu71Phe) http://identifiers.org/clinvar/196309 ^@ NM_001130966.2(TBXAS1):c.196G>A (p.Glu66Lys) http://identifiers.org/clinvar/196310 ^@ NM_001077182.2(FSCN2):c.1092C>T (p.Ile364=) http://identifiers.org/clinvar/196311 ^@ NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) http://identifiers.org/clinvar/196312 ^@ NM_001111.4(ADAR):c.1760A>G (p.Tyr587Cys) http://identifiers.org/clinvar/196313 ^@ NM_001112704.1(VAX1):c.883A>G (p.Met295Val) http://identifiers.org/clinvar/196314 ^@ NM_001112704.1(VAX1):c.715G>T (p.Ala239Ser) http://identifiers.org/clinvar/196315 ^@ NM_001130823.2(DNMT1):c.150C>T (p.His50=) http://identifiers.org/clinvar/196316 ^@ NM_001143979.1(NDE1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/196317 ^@ NM_020920.3(CHD8):c.570T>C (p.Ile190=) http://identifiers.org/clinvar/196318 ^@ NM_001173467.2(SP7):c.864G>A (p.Leu288=) http://identifiers.org/clinvar/196319 ^@ NM_001173467.2(SP7):c.63G>A (p.Thr21=) http://identifiers.org/clinvar/196320 ^@ NM_001173991.2(TMEM216):c.211G>T (p.Val71Leu) http://identifiers.org/clinvar/196321 ^@ NM_001184880.1(PCDH19):c.2496C>T (p.Phe832=) http://identifiers.org/clinvar/196322 ^@ NM_001200.3(BMP2):c.570A>T (p.Arg190Ser) http://identifiers.org/clinvar/196323 ^@ NM_001200.3(BMP2):c.552G>A (p.Ser184=) http://identifiers.org/clinvar/196324 ^@ NM_001235.3(SERPINH1):c.721+9T>C http://identifiers.org/clinvar/196325 ^@ NM_001360.2(DHCR7):c.28C>G (p.Pro10Ala) http://identifiers.org/clinvar/196326 ^@ NM_001613.2(ACTA2):c.135G>A (p.Val45=) http://identifiers.org/clinvar/196327 ^@ NM_001845.5(COL4A1):c.161C>T (p.Pro54Leu) http://identifiers.org/clinvar/196328 ^@ NM_001845.5(COL4A1):c.234+8C>T http://identifiers.org/clinvar/196329 ^@ NM_001848.2(COL6A1):c.324C>T (p.Gly108=) http://identifiers.org/clinvar/196330 ^@ NM_001849.3(COL6A2):c.510C>T (p.Cys170=) http://identifiers.org/clinvar/196331 ^@ NM_001849.3(COL6A2):c.483C>T (p.Thr161=) http://identifiers.org/clinvar/196332 ^@ NM_001849.3(COL6A2):c.116-7C>T http://identifiers.org/clinvar/196333 ^@ NM_001909.4(CTSD):c.267C>G (p.Pro89=) http://identifiers.org/clinvar/196335 ^@ NM_002025.3(AFF2):c.495C>A (p.Asn165Lys) http://identifiers.org/clinvar/196336 ^@ NM_002025.3(AFF2):c.181-6T>C http://identifiers.org/clinvar/196337 ^@ NM_002087.3(GRN):c.264+7G>A http://identifiers.org/clinvar/196338 ^@ NM_002103.4(GYS1):c.492+9C>T http://identifiers.org/clinvar/196339 ^@ NM_002310.5(LIFR):c.143-10_143-9insGT http://identifiers.org/clinvar/196340 ^@ NM_002335.3(LRP5):c.639C>T (p.Asp213=) http://identifiers.org/clinvar/196341 ^@ NM_002381.4(MATN3):c.792G>A (p.Ala264=) http://identifiers.org/clinvar/196342 ^@ NM_001131005.2(MEF2C):c.121T>C (p.Cys41Arg) http://identifiers.org/clinvar/196343 ^@ NM_002420.5(TRPM1):c.95G>A (p.Ser32Asn) http://identifiers.org/clinvar/196344 ^@ NM_002420.5(TRPM1):c.118G>A (p.Glu40Lys) http://identifiers.org/clinvar/196345 ^@ NM_002420.5(TRPM1):c.168T>C (p.Tyr56=) http://identifiers.org/clinvar/196346 ^@ NM_002427.3(MMP13):c.438C>T (p.Ser146=) http://identifiers.org/clinvar/196347 ^@ NM_002427.3(MMP13):c.443T>A (p.Val148Glu) http://identifiers.org/clinvar/196348 ^@ NM_002435.2(MPI):c.303C>T (p.Leu101=) http://identifiers.org/clinvar/196349 ^@ NM_002546.3(TNFRSF11B):c.401-5T>C http://identifiers.org/clinvar/196350 ^@ NM_002546.3(TNFRSF11B):c.433T>G (p.Cys145Gly) http://identifiers.org/clinvar/196351 ^@ NM_002618.3(PEX13):c.791G>C (p.Ser264Thr) http://identifiers.org/clinvar/196352 ^@ NM_002618.3(PEX13):c.893T>C (p.Met298Thr) http://identifiers.org/clinvar/196353 ^@ NM_002653.4(PITX1):c.416A>C (p.Asn139Thr) http://identifiers.org/clinvar/196354 ^@ NM_002693.2(POLG):c.803G>C (p.Gly268Ala) http://identifiers.org/clinvar/196355 ^@ NM_002951.4(RPN2):c.265T>C (p.Tyr89His) http://identifiers.org/clinvar/196356 ^@ NM_003035.2(STIL):c.152+4T>C http://identifiers.org/clinvar/196357 ^@ NM_003124.4(SPR):c.629G>A (p.Arg210Gln) http://identifiers.org/clinvar/196358 ^@ NM_003289.3(TPM2):c.241-7C>A http://identifiers.org/clinvar/196359 ^@ NM_003322.5(TULP1):c.184C>T (p.Pro62Ser) http://identifiers.org/clinvar/196360 ^@ NM_003332.3(TYROBP):c.163G>T (p.Val55Leu) http://identifiers.org/clinvar/196361 ^@ NM_003361.3(UMOD):c.539T>C (p.Leu180Pro) http://identifiers.org/clinvar/196362 ^@ NM_003361.3(UMOD):c.840C>T (p.Pro280=) http://identifiers.org/clinvar/196363 ^@ NM_003361.3(UMOD):c.538C>G (p.Leu180Val) http://identifiers.org/clinvar/196364 ^@ NM_003482.3(KMT2D):c.177-12_177-2delGTGTGTCCACA http://identifiers.org/clinvar/196365 ^@ NM_003722.4(TP63):c.192-9_192-8delAT http://identifiers.org/clinvar/196366 ^@ NM_003816.2(ADAM9):c.226G>A (p.Glu76Lys) http://identifiers.org/clinvar/196367 ^@ NM_003923.2(FOXH1):c.529G>A (p.Gly177Arg) http://identifiers.org/clinvar/196368 ^@ NM_003923.2(FOXH1):c.373A>T (p.Thr125Ser) http://identifiers.org/clinvar/196369 ^@ NM_003923.2(FOXH1):c.499T>C (p.Phe167Leu) http://identifiers.org/clinvar/196370 ^@ NM_003923.2(FOXH1):c.783T>C (p.Pro261=) http://identifiers.org/clinvar/196371 ^@ NM_003924.3(PHOX2B):c.741_755delCGCGGCAGCGGCGGC (p.Ala256_Ala260del) http://identifiers.org/clinvar/196372 ^@ NM_004006.2(DMD):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/196374 ^@ NM_004006.2(DMD):c.94-3C>T http://identifiers.org/clinvar/196375 ^@ NM_004187.3(KDM5C):c.351+1G>T http://identifiers.org/clinvar/196376 ^@ NM_004273.4(CHST3):c.311A>G (p.Glu104Gly) http://identifiers.org/clinvar/196377 ^@ NM_004273.4(CHST3):c.1173C>A (p.Ile391=) http://identifiers.org/clinvar/196378 ^@ NM_004273.4(CHST3):c.417C>T (p.Ala139=) http://identifiers.org/clinvar/196379 ^@ NM_004281.3(BAG3):c.892G>A (p.Val298Met) http://identifiers.org/clinvar/196380 ^@ NM_004369.3(COL6A3):c.410G>A (p.Arg137Gln) http://identifiers.org/clinvar/196381 ^@ NM_001165928.3(DAG1):c.1360C>T (p.Arg454Trp) http://identifiers.org/clinvar/196382 ^@ NM_001165928.3(DAG1):c.1436G>A (p.Arg479His) http://identifiers.org/clinvar/196383 ^@ NM_001165928.3(DAG1):c.965C>T (p.Thr322Ile) http://identifiers.org/clinvar/196384 ^@ NM_004393.5(DAG1):c.1233G>A (p.Val411=) http://identifiers.org/clinvar/196385 ^@ NM_001165928.3(DAG1):c.498G>A (p.Ser166=) http://identifiers.org/clinvar/196386 ^@ NM_001165928.3(DAG1):c.2196G>A (p.Pro732=) http://identifiers.org/clinvar/196387 ^@ NM_001165928.3(DAG1):c.735G>A (p.Pro245=) http://identifiers.org/clinvar/196388 ^@ NM_001165928.3(DAG1):c.599C>G (p.Thr200Ser) http://identifiers.org/clinvar/196389 ^@ NM_004463.2(FGD1):c.527dupC (p.Leu177Thrfs) http://identifiers.org/clinvar/196390 ^@ NM_004463.2(FGD1):c.622T>C (p.Ser208Pro) http://identifiers.org/clinvar/196391 ^@ NM_004482.3(GALNT3):c.591G>A (p.Ala197=) http://identifiers.org/clinvar/196392 ^@ NM_004560.3(ROR2):c.298G>A (p.Ala100Thr) http://identifiers.org/clinvar/196393 ^@ NM_004560.3(ROR2):c.372C>T (p.Asp124=) http://identifiers.org/clinvar/196394 ^@ NM_004572.3(PKP2):c.789G>A (p.Thr263=) http://identifiers.org/clinvar/196395 ^@ NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) http://identifiers.org/clinvar/196397 ^@ NM_004813.2(PEX16):c.204G>T (p.Glu68Asp) http://identifiers.org/clinvar/196398 ^@ NM_004817.3(TJP2):c.239+19T>C http://identifiers.org/clinvar/196399 ^@ NM_004820.4(CYP7B1):c.835G>A (p.Asp279Asn) http://identifiers.org/clinvar/196400 ^@ NM_004820.4(CYP7B1):c.525G>C (p.Trp175Cys) http://identifiers.org/clinvar/196401 ^@ NM_004944.3(DNASE1L3):c.244G>C (p.Gly82Arg) http://identifiers.org/clinvar/196402 ^@ NM_001110792.1(MECP2):c.287G>A (p.Arg96Gln) http://identifiers.org/clinvar/196403 ^@ NM_001110792.1(MECP2):c.90C>G (p.Leu30=) http://identifiers.org/clinvar/196404 ^@ NM_005029.3(PITX3):c.285C>T (p.Ile95=) http://identifiers.org/clinvar/196405 ^@ NM_005120.2(MED12):c.381G>A (p.Thr127=) http://identifiers.org/clinvar/196406 ^@ NM_005159.4(ACTC1):c.188A>G (p.Lys63Arg) http://identifiers.org/clinvar/196407 ^@ NM_005220.2(DLX3):c.832G>A (p.Gly278Arg) http://identifiers.org/clinvar/196408 ^@ NM_005378.5(MYCN):c.835G>A (p.Val279Met) http://identifiers.org/clinvar/196409 ^@ NM_005378.5(MYCN):c.801_809delTGATGAAGA (p.Asp267_Glu269del) http://identifiers.org/clinvar/196410 ^@ NM_001128227.2(GNE):c.559T>C (p.Tyr187His) http://identifiers.org/clinvar/196411 ^@ NM_001128227.2(GNE):c.693C>T (p.Ile231=) http://identifiers.org/clinvar/196412 ^@ NM_005506.3(SCARB2):c.382C>G (p.Pro128Ala) http://identifiers.org/clinvar/196413 ^@ NM_005670.3(EPM2A):c.680C>T (p.Ala227Val) http://identifiers.org/clinvar/196414 ^@ NM_005670.3(EPM2A):c.600G>T (p.Gln200His) http://identifiers.org/clinvar/196415 ^@ NM_005677.3(COLQ):c.291G>A (p.Ser97=) http://identifiers.org/clinvar/196416 ^@ NM_005682.6(ADGRG1):c.27G>A (p.Thr9=) http://identifiers.org/clinvar/196417 ^@ NM_005709.3(USH1C):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/196418 ^@ NM_005802.4(TOPORS):c.814A>G (p.Ile272Val) http://identifiers.org/clinvar/196419 ^@ NM_005802.4(TOPORS):c.2161A>G (p.Arg721Gly) http://identifiers.org/clinvar/196420 ^@ NM_005802.4(TOPORS):c.2044T>C (p.Ser682Pro) http://identifiers.org/clinvar/196421 ^@ NM_005802.4(TOPORS):c.671A>C (p.Asp224Ala) http://identifiers.org/clinvar/196422 ^@ NM_005802.4(TOPORS):c.2862A>C (p.Thr954=) http://identifiers.org/clinvar/196423 ^@ NM_005802.4(TOPORS):c.2344A>G (p.Thr782Ala) http://identifiers.org/clinvar/196424 ^@ NM_005802.4(TOPORS):c.2019T>A (p.Arg673=) http://identifiers.org/clinvar/196425 ^@ NM_005802.4(TOPORS):c.2018G>T (p.Arg673Leu) http://identifiers.org/clinvar/196426 ^@ NM_005802.4(TOPORS):c.2643C>G (p.His881Gln) http://identifiers.org/clinvar/196427 ^@ NM_005802.4(TOPORS):c.2018_2019delGTinsTA (p.Arg673Leu) http://identifiers.org/clinvar/196428 ^@ NM_005902.3(SMAD3):c.440C>T (p.Pro147Leu) http://identifiers.org/clinvar/196429 ^@ NM_005957.4(MTHFR):c.417G>A (p.Thr139=) http://identifiers.org/clinvar/196430 ^@ NM_005957.4(MTHFR):c.276C>T (p.Asp92=) http://identifiers.org/clinvar/196431 ^@ NM_006031.5(PCNT):c.405C>T (p.Val135=) http://identifiers.org/clinvar/196432 ^@ NM_006261.4(PROP1):c.425C>T (p.Ala142Val) http://identifiers.org/clinvar/196433 ^@ NM_006261.4(PROP1):c.456T>C (p.Ala152=) http://identifiers.org/clinvar/196434 ^@ NM_006261.4(PROP1):c.424G>A (p.Ala142Thr) http://identifiers.org/clinvar/196435 ^@ NM_006269.1(RP1):c.616-6T>C http://identifiers.org/clinvar/196436 ^@ NM_006445.3(PRPF8):c.101-3C>T http://identifiers.org/clinvar/196437 ^@ NM_006486.2(FBLN1):c.279G>T (p.Thr93=) http://identifiers.org/clinvar/196438 ^@ NM_006493.2(CLN5):c.562T>C (p.Phe188Leu) http://identifiers.org/clinvar/196439 ^@ NM_006516.2(SLC2A1):c.164G>C (p.Ser55Thr) http://identifiers.org/clinvar/196440 ^@ NM_006517.4(SLC16A2):c.604G>A (p.Gly202Arg) http://identifiers.org/clinvar/196442 ^@ NM_006783.4(GJB6):c.177A>G (p.Gly59=) http://identifiers.org/clinvar/196444 ^@ NM_006915.2(RP2):c.844C>T (p.Arg282Trp) http://identifiers.org/clinvar/196445 ^@ NM_006922.3(SCN3A):c.171T>C (p.Ala57=) http://identifiers.org/clinvar/196446 ^@ NM_006946.2(SPTBN2):c.229C>T (p.Arg77Trp) http://identifiers.org/clinvar/196447 ^@ NM_007129.3(ZIC2):c.1326C>T (p.Ser442=) http://identifiers.org/clinvar/196450 ^@ NM_007171.3(POMT1):c.123-6_123-5dupTT http://identifiers.org/clinvar/196451 ^@ NM_007171.3(POMT1):c.129C>T (p.Asp43=) http://identifiers.org/clinvar/196452 ^@ NM_007171.3(POMT1):c.197C>G (p.Pro66Arg) http://identifiers.org/clinvar/196453 ^@ NM_007317.2(KIF22):c.267-11_267-8delTCTT http://identifiers.org/clinvar/196455 ^@ NM_013236.3(ATXN10):c.321G>A (p.Thr107=) http://identifiers.org/clinvar/196456 ^@ NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/196457 ^@ NM_014140.3(SMARCAL1):c.675G>A (p.Lys225=) http://identifiers.org/clinvar/196458 ^@ NM_014140.3(SMARCAL1):c.340C>G (p.Arg114Gly) http://identifiers.org/clinvar/196459 ^@ NM_014141.5(CNTNAP2):c.341G>A (p.Arg114Gln) http://identifiers.org/clinvar/196460 ^@ NM_014141.5(CNTNAP2):c.273T>C (p.Asn91=) http://identifiers.org/clinvar/196461 ^@ NM_014191.3(SCN8A):c.302A>G (p.Lys101Arg) http://identifiers.org/clinvar/196462 ^@ NM_014336.4(AIPL1):c.318G>A (p.Gln106=) http://identifiers.org/clinvar/196463 ^@ NM_014336.4(AIPL1):c.373A>G (p.Asn125Asp) http://identifiers.org/clinvar/196464 ^@ NM_014336.4(AIPL1):c.305G>A (p.Arg102Gln) http://identifiers.org/clinvar/196465 ^@ NM_014336.4(AIPL1):c.401A>T (p.Tyr134Phe) http://identifiers.org/clinvar/196466 ^@ NM_014425.4(INVS):c.114T>C (p.Ser38=) http://identifiers.org/clinvar/196468 ^@ NM_014795.3(ZEB2):c.219C>T (p.His73=) http://identifiers.org/clinvar/196469 ^@ NM_015102.4(NPHP4):c.267C>T (p.Ile89=) http://identifiers.org/clinvar/196470 ^@ NM_015102.4(NPHP4):c.279G>T (p.Glu93Asp) http://identifiers.org/clinvar/196471 ^@ NM_015102.4(NPHP4):c.271T>C (p.Phe91Leu) http://identifiers.org/clinvar/196472 ^@ NM_001008222.2(ZDHHC9):c.167+10G>A http://identifiers.org/clinvar/196473 ^@ NM_016180.4(SLC45A2):c.619C>G (p.Leu207Val) http://identifiers.org/clinvar/196474 ^@ NM_016180.4(SLC45A2):c.856C>T (p.Gln286Ter) http://identifiers.org/clinvar/196475 ^@ NM_016725.2(FOLR1):c.215A>G (p.Gln72Arg) http://identifiers.org/clinvar/196476 ^@ NM_016725.2(FOLR1):c.292C>T (p.Arg98Trp) http://identifiers.org/clinvar/196477 ^@ NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) http://identifiers.org/clinvar/196478 ^@ NM_017780.3(CHD7):c.2067G>A (p.Thr689=) http://identifiers.org/clinvar/196481 ^@ NM_017882.2(CLN6):c.214G>C (p.Glu72Gln) http://identifiers.org/clinvar/196482 ^@ NM_017950.3(CCDC40):c.200G>A (p.Gly67Glu) http://identifiers.org/clinvar/196483 ^@ NM_030803.6(ATG16L1):c.220G>A (p.Asp74Asn) http://identifiers.org/clinvar/196484 ^@ NM_018100.3(EFHC1):c.475C>G (p.Arg159Gly) http://identifiers.org/clinvar/196485 ^@ NM_018136.4(ASPM):c.1141G>T (p.Asp381Tyr) http://identifiers.org/clinvar/196486 ^@ NM_018136.4(ASPM):c.1304C>T (p.Ser435Leu) http://identifiers.org/clinvar/196487 ^@ NM_018136.4(ASPM):c.1238T>A (p.Val413Glu) http://identifiers.org/clinvar/196488 ^@ NM_018319.3(TDP1):c.208T>A (p.Ser70Thr) http://identifiers.org/clinvar/196489 ^@ NM_018451.4(CENPJ):c.466A>C (p.Lys156Gln) http://identifiers.org/clinvar/196490 ^@ NM_018714.2(COG1):c.655G>C (p.Glu219Gln) http://identifiers.org/clinvar/196491 ^@ NM_170784.2(MKKS):c.812C>T (p.Ala271Val) http://identifiers.org/clinvar/196492 ^@ NM_018848.3(MKKS):c.985+16T>G http://identifiers.org/clinvar/196493 ^@ NM_018941.3(CLN8):c.806A>T (p.Glu269Val) http://identifiers.org/clinvar/196494 ^@ NM_018965.3(TREM2):c.469C>T (p.His157Tyr) http://identifiers.org/clinvar/196495 ^@ NM_020166.4(MCCC1):c.205A>T (p.Lys69Ter) http://identifiers.org/clinvar/196496 ^@ NM_020223.3(FAM20C):c.795G>A (p.Ser265=) http://identifiers.org/clinvar/196497 ^@ NM_001276378.1(LZTFL1):c.271C>T (p.Arg91Ter) http://identifiers.org/clinvar/196498 ^@ NM_020549.4(CHAT):c.418C>T (p.Gln140Ter) http://identifiers.org/clinvar/196499 ^@ NM_020631.4(PLEKHG5):c.73C>T (p.Arg25Trp) http://identifiers.org/clinvar/196500 ^@ NM_181332.2(NLGN4X):c.591C>T (p.Ile197=) http://identifiers.org/clinvar/196501 ^@ NM_020800.2(IFT80):c.60G>A (p.Val20=) http://identifiers.org/clinvar/196502 ^@ NM_020822.2(KCNT1):c.299G>A (p.Arg100Gln) http://identifiers.org/clinvar/196503 ^@ NM_020822.2(KCNT1):c.333G>A (p.Ser111=) http://identifiers.org/clinvar/196504 ^@ NM_021072.3(HCN1):c.990G>C (p.Trp330Cys) http://identifiers.org/clinvar/196505 ^@ NM_021101.4(CLDN1):c.473+6G>A http://identifiers.org/clinvar/196506 ^@ NM_021120.3(DLG3):c.409-4G>T http://identifiers.org/clinvar/196507 ^@ NM_021615.4(CHST6):c.993G>T (p.Gln331His) http://identifiers.org/clinvar/196508 ^@ NM_021939.3(FKBP10):c.504C>T (p.Pro168=) http://identifiers.org/clinvar/196509 ^@ NM_022095.3(ZNF335):c.306T>G (p.Gly102=) http://identifiers.org/clinvar/196510 ^@ NM_001146289.1(P3H1):c.756C>T (p.Tyr252=) http://identifiers.org/clinvar/196511 ^@ NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) http://identifiers.org/clinvar/196512 ^@ NM_023110.2(FGFR1):c.336C>T (p.Thr112=) http://identifiers.org/clinvar/196513 ^@ NM_023110.2(FGFR1):c.345C>T (p.Ser115=) http://identifiers.org/clinvar/196514 ^@ NM_024075.4(TSEN34):c.394G>A (p.Gly132Arg) http://identifiers.org/clinvar/196515 ^@ NM_024596.4(MCPH1):c.182A>G (p.Asp61Gly) http://identifiers.org/clinvar/196516 ^@ NM_001191061.1(SLC25A22):c.21-3C>T http://identifiers.org/clinvar/196517 ^@ NM_024757.4(EHMT1):c.91C>T (p.Pro31Ser) http://identifiers.org/clinvar/196518 ^@ NM_024757.4(EHMT1):c.211A>G (p.Lys71Glu) http://identifiers.org/clinvar/196519 ^@ NM_024757.4(EHMT1):c.589G>A (p.Asp197Asn) http://identifiers.org/clinvar/196520 ^@ NM_024757.4(EHMT1):c.581C>T (p.Pro194Leu) http://identifiers.org/clinvar/196521 ^@ NM_024757.4(EHMT1):c.298_299delGAinsAT (p.Asp100Ile) http://identifiers.org/clinvar/196522 ^@ NM_024757.4(EHMT1):c.183C>T (p.Ser61=) http://identifiers.org/clinvar/196523 ^@ NM_024757.4(EHMT1):c.298G>A (p.Asp100Asn) http://identifiers.org/clinvar/196524 ^@ NM_024757.4(EHMT1):c.299A>T (p.Asp100Val) http://identifiers.org/clinvar/196525 ^@ NM_024757.4(EHMT1):c.86-5G>A http://identifiers.org/clinvar/196526 ^@ NM_025193.3(HSD3B7):c.167-6G>A http://identifiers.org/clinvar/196527 ^@ NM_025219.2(DNAJC5):c.144C>T (p.Pro48=) http://identifiers.org/clinvar/196528 ^@ NM_025243.3(SLC19A3):c.546G>A (p.Val182=) http://identifiers.org/clinvar/196529 ^@ NM_030665.3(RAI1):c.1941C>T (p.Ser647=) http://identifiers.org/clinvar/196530 ^@ NM_030665.3(RAI1):c.1937A>C (p.His646Pro) http://identifiers.org/clinvar/196531 ^@ NM_030665.3(RAI1):c.1499C>T (p.Pro500Leu) http://identifiers.org/clinvar/196532 ^@ NM_030665.3(RAI1):c.3913G>A (p.Ala1305Thr) http://identifiers.org/clinvar/196533 ^@ NM_030665.3(RAI1):c.4676G>A (p.Arg1559Gln) http://identifiers.org/clinvar/196534 ^@ NM_030665.3(RAI1):c.3174T>C (p.Arg1058=) http://identifiers.org/clinvar/196535 ^@ NM_030665.3(RAI1):c.3726_3731dupGAGCCG (p.Ser1245_Ser1246insArgSer) http://identifiers.org/clinvar/196536 ^@ NM_030665.3(RAI1):c.1740G>A (p.Pro580=) http://identifiers.org/clinvar/196537 ^@ NM_030665.3(RAI1):c.4250A>G (p.Lys1417Arg) http://identifiers.org/clinvar/196538 ^@ NM_030665.3(RAI1):c.2422G>A (p.Gly808Arg) http://identifiers.org/clinvar/196539 ^@ NM_030665.3(RAI1):c.5379C>T (p.Gly1793=) http://identifiers.org/clinvar/196540 ^@ NM_030665.3(RAI1):c.3281C>A (p.Ser1094Ter) http://identifiers.org/clinvar/196541 ^@ NM_030665.3(RAI1):c.484G>A (p.Ala162Thr) http://identifiers.org/clinvar/196542 ^@ NM_030665.3(RAI1):c.5023G>C (p.Val1675Leu) http://identifiers.org/clinvar/196543 ^@ NM_030665.3(RAI1):c.4616G>A (p.Arg1539His) http://identifiers.org/clinvar/196544 ^@ NM_030665.3(RAI1):c.1444A>G (p.Ser482Gly) http://identifiers.org/clinvar/196545 ^@ NM_030665.3(RAI1):c.4438A>G (p.Arg1480Gly) http://identifiers.org/clinvar/196546 ^@ NM_030665.3(RAI1):c.1850C>A (p.Ala617Asp) http://identifiers.org/clinvar/196547 ^@ NM_030665.3(RAI1):c.660C>T (p.Ser220=) http://identifiers.org/clinvar/196549 ^@ NM_030665.3(RAI1):c.4043C>T (p.Ala1348Val) http://identifiers.org/clinvar/196550 ^@ NM_030665.3(RAI1):c.1476C>T (p.Pro492=) http://identifiers.org/clinvar/196551 ^@ NM_030665.3(RAI1):c.4963G>A (p.Gly1655Ser) http://identifiers.org/clinvar/196552 ^@ NM_030665.3(RAI1):c.1656C>T (p.Ser552=) http://identifiers.org/clinvar/196553 ^@ NM_030665.3(RAI1):c.2659A>G (p.Met887Val) http://identifiers.org/clinvar/196554 ^@ NM_030665.3(RAI1):c.3928T>C (p.Phe1310Leu) http://identifiers.org/clinvar/196555 ^@ NM_030665.3(RAI1):c.3335C>T (p.Pro1112Leu) http://identifiers.org/clinvar/196556 ^@ NM_030665.3(RAI1):c.5036C>T (p.Ala1679Val) http://identifiers.org/clinvar/196557 ^@ NM_030665.3(RAI1):c.1770T>G (p.Gly590=) http://identifiers.org/clinvar/196558 ^@ NM_030665.3(RAI1):c.864_872delGCAGCAGCA (p.Gln289_Gln291del) http://identifiers.org/clinvar/196559 ^@ NM_030665.3(RAI1):c.870_872delGCA (p.Gln291del) http://identifiers.org/clinvar/196560 ^@ NM_031220.3(PITPNM3):c.216C>T (p.Asp72=) http://identifiers.org/clinvar/196561 ^@ NM_015645.4(C1QTNF5):c.-2478T>C http://identifiers.org/clinvar/196562 ^@ NM_015645.4(C1QTNF5):c.-2477C>G http://identifiers.org/clinvar/196563 ^@ NM_032119.3(ADGRV1):c.267C>T (p.Ala89=) http://identifiers.org/clinvar/196564 ^@ NM_032119.3(ADGRV1):c.357+8C>T http://identifiers.org/clinvar/196565 ^@ NM_032273.3(TMEM126A):c.154A>G (p.Ser52Gly) http://identifiers.org/clinvar/196566 ^@ NM_032273.3(TMEM126A):c.87G>C (p.Arg29Ser) http://identifiers.org/clinvar/196567 ^@ NM_032382.4(COG8):c.597C>T (p.Asn199=) http://identifiers.org/clinvar/196568 ^@ NM_032382.4(COG8):c.1017C>T (p.Gly339=) http://identifiers.org/clinvar/196569 ^@ NM_032575.2(GLIS2):c.522+10G>A http://identifiers.org/clinvar/196570 ^@ NM_033028.4(BBS4):c.137A>G (p.Lys46Arg) http://identifiers.org/clinvar/196571 ^@ NM_130838.1(UBE3A):c.972T>C (p.Ile324=) http://identifiers.org/clinvar/196572 ^@ NM_130838.1(UBE3A):c.1278T>C (p.Phe426=) http://identifiers.org/clinvar/196573 ^@ NM_001267550.2(TTN):c.186C>T (p.Arg62=) http://identifiers.org/clinvar/196574 ^@ NM_001146077.1(CLDN14):c.*10G>C http://identifiers.org/clinvar/196575 ^@ NM_144631.5(ZNF513):c.724C>T (p.Arg242Cys) http://identifiers.org/clinvar/196576 ^@ NM_144631.5(ZNF513):c.290C>T (p.Ala97Val) http://identifiers.org/clinvar/196577 ^@ NM_144631.5(ZNF513):c.519C>T (p.Ser173=) http://identifiers.org/clinvar/196578 ^@ NM_144631.5(ZNF513):c.547T>C (p.Cys183Arg) http://identifiers.org/clinvar/196579 ^@ NM_152264.4(SLC39A13):c.398C>T (p.Thr133Met) http://identifiers.org/clinvar/196580 ^@ NM_152415.2(VPS37A):c.202T>C (p.Leu68=) http://identifiers.org/clinvar/196581 ^@ NM_001042413.1(GLIS3):c.1545G>C (p.Glu515Asp) http://identifiers.org/clinvar/196582 ^@ NM_152778.2(MFSD8):c.63-4delC http://identifiers.org/clinvar/196583 ^@ NM_153427.2(PITX2):c.46+7_46+8insGT http://identifiers.org/clinvar/196584 ^@ NM_153427.2(PITX2):c.46+8C>G http://identifiers.org/clinvar/196585 ^@ NM_153427.2(PITX2):c.46+8_46+9insTT http://identifiers.org/clinvar/196586 ^@ NM_153427.2(PITX2):c.46+8delCinsGTT http://identifiers.org/clinvar/196587 ^@ NM_153603.3(COG7):c.323dupT (p.Leu108Phefs) http://identifiers.org/clinvar/196588 ^@ NM_153818.1(PEX10):c.495C>T (p.Phe165=) http://identifiers.org/clinvar/196589 ^@ NM_172337.2(OTX2):c.420G>C (p.Pro140=) http://identifiers.org/clinvar/196590 ^@ NM_173495.2(PTCHD1):c.1311T>C (p.His437=) http://identifiers.org/clinvar/196591 ^@ NM_173495.2(PTCHD1):c.2041G>A (p.Val681Ile) http://identifiers.org/clinvar/196592 ^@ NM_173495.2(PTCHD1):c.1494C>T (p.Thr498=) http://identifiers.org/clinvar/196593 ^@ NM_173495.2(PTCHD1):c.1110C>G (p.Asp370Glu) http://identifiers.org/clinvar/196594 ^@ NM_173495.2(PTCHD1):c.1665G>A (p.Val555=) http://identifiers.org/clinvar/196595 ^@ NM_173660.4(DOK7):c.331+9C>T http://identifiers.org/clinvar/196596 ^@ NM_173660.4(DOK7):c.220C= (p.Leu74=) http://identifiers.org/clinvar/196597 ^@ NM_173660.4(DOK7):c.134C>T (p.Ser45Leu) http://identifiers.org/clinvar/196598 ^@ NM_198270.3(NHS):c.828G>A (p.Glu276=) http://identifiers.org/clinvar/196599 ^@ NM_144596.3(TTC8):c.267C>A (p.Arg89=) http://identifiers.org/clinvar/196600 ^@ NM_144596.3(TTC8):c.284A>G (p.Lys95Arg) http://identifiers.org/clinvar/196601 ^@ NM_198506.4(LRIT3):c.654C>T (p.Val218=) http://identifiers.org/clinvar/196602 ^@ NM_198525.2(KIF7):c.336C>T (p.Leu112=) http://identifiers.org/clinvar/196603 ^@ NM_198525.2(KIF7):c.510A>G (p.Glu170=) http://identifiers.org/clinvar/196604 ^@ NM_203288.1(RP9):c.216A>G (p.Pro72=) http://identifiers.org/clinvar/196605 ^@ NM_203447.3(DOCK8):c.314C>G (p.Pro105Arg) http://identifiers.org/clinvar/196606 ^@ NM_207361.5(FREM2):c.5276T>C (p.Leu1759Ser) http://identifiers.org/clinvar/196607 ^@ NM_000088.3(COL1A1):c.1984-5C>A http://identifiers.org/clinvar/196608 ^@ NM_000350.2(ABCA4):c.4407C>T (p.Asn1469=) http://identifiers.org/clinvar/196609 ^@ NM_000350.2(ABCA4):c.4429C>T (p.Gln1477Ter) http://identifiers.org/clinvar/196610 ^@ NM_000392.4(ABCC2):c.4179G>T (p.Met1393Ile) http://identifiers.org/clinvar/196611 ^@ NM_000445.4(PLEC):c.3966G>A (p.Pro1322=) http://identifiers.org/clinvar/196612 ^@ NM_001083961.1(WDR62):c.3786C>T (p.Gly1262=) http://identifiers.org/clinvar/196613 ^@ NM_001083961.1(WDR62):c.3812C>T (p.Ala1271Val) http://identifiers.org/clinvar/196614 ^@ NM_001130823.2(DNMT1):c.3156C>T (p.His1052=) http://identifiers.org/clinvar/196615 ^@ NM_003494.3(DYSF):c.3175-5T>C http://identifiers.org/clinvar/196616 ^@ NM_001142800.1(EYS):c.6079-4_6079-3delTC http://identifiers.org/clinvar/196617 ^@ NM_001458.4(FLNC):c.5042C>G (p.Thr1681Arg) http://identifiers.org/clinvar/196618 ^@ NM_001844.4(COL2A1):c.1962C>T (p.Gly654=) http://identifiers.org/clinvar/196619 ^@ NM_001848.2(COL6A1):c.1823-8G>T http://identifiers.org/clinvar/196620 ^@ NM_001852.3(COL9A2):c.1741G>A (p.Val581Ile) http://identifiers.org/clinvar/196621 ^@ NM_001852.3(COL9A2):c.1604-10_1604-3delCTCCCTCC http://identifiers.org/clinvar/196622 ^@ NM_001853.3(COL9A3):c.1726G>A (p.Ala576Thr) http://identifiers.org/clinvar/196623 ^@ NM_003482.3(KMT2D):c.6204G>A (p.Arg2068=) http://identifiers.org/clinvar/196624 ^@ NM_003494.3(DYSF):c.3249C>T (p.Tyr1083=) http://identifiers.org/clinvar/196625 ^@ NM_003494.3(DYSF):c.3230G>A (p.Trp1077Ter) http://identifiers.org/clinvar/196627 ^@ NM_004380.2(CREBBP):c.5168G>A (p.Cys1723Tyr) http://identifiers.org/clinvar/196628 ^@ NM_004380.2(CREBBP):c.5115C>T (p.Tyr1705=) http://identifiers.org/clinvar/196629 ^@ NM_005045.3(RELN):c.4457A>G (p.Asn1486Ser) http://identifiers.org/clinvar/196630 ^@ NM_014639.3(TTC37):c.3015-4dupT http://identifiers.org/clinvar/196631 ^@ NM_015102.4(NPHP4):c.4145G>A (p.Gly1382Glu) http://identifiers.org/clinvar/196632 ^@ NM_020822.2(KCNT1):c.3537C>T (p.Tyr1179=) http://identifiers.org/clinvar/196633 ^@ NM_032119.3(ADGRV1):c.6684T>A (p.Ser2228=) http://identifiers.org/clinvar/196634 ^@ NM_052985.3(IFT122):c.3699C>T (p.Leu1233=) http://identifiers.org/clinvar/196635 ^@ NM_080680.2(COL11A2):c.2336C>T (p.Pro779Leu) http://identifiers.org/clinvar/196636 ^@ NM_138694.3(PKHD1):c.3528dupC (p.Ser1177Leufs) http://identifiers.org/clinvar/196637 ^@ NM_144966.5(FREM1):c.5335-11dupT http://identifiers.org/clinvar/196638 ^@ NM_182914.2(SYNE2):c.3927A>G (p.Glu1309=) http://identifiers.org/clinvar/196639 ^@ NM_001267550.2(TTN):c.98312G>T (p.Gly32771Val) http://identifiers.org/clinvar/196640 ^@ NM_001267550.2(TTN):c.98259A>G (p.Thr32753=) http://identifiers.org/clinvar/196641 ^@ NM_001267550.2(TTN):c.98781T>C (p.Ser32927=) http://identifiers.org/clinvar/196642 ^@ NM_001267550.2(TTN):c.98919C>T (p.Ile32973=) http://identifiers.org/clinvar/196643 ^@ NM_001256850.1(TTN):c.93793G>A (p.Val31265Ile) http://identifiers.org/clinvar/196644 ^@ NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) http://identifiers.org/clinvar/196645 ^@ NM_001267550.2(TTN):c.99381G>T (p.Arg33127Ser) http://identifiers.org/clinvar/196646 ^@ NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) http://identifiers.org/clinvar/196647 ^@ NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) http://identifiers.org/clinvar/196648 ^@ NM_001267550.2(TTN):c.100467T>C (p.Ser33489=) http://identifiers.org/clinvar/196649 ^@ NM_001267550.2(TTN):c.105680C>T (p.Ala35227Val) http://identifiers.org/clinvar/196650 ^@ NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe) http://identifiers.org/clinvar/196651 ^@ NM_001267550.2(TTN):c.100766-10dupT http://identifiers.org/clinvar/196652 ^@ NM_001267550.2(TTN):c.102329G>A (p.Arg34110Gln) http://identifiers.org/clinvar/196653 ^@ NM_001256850.1(TTN):c.97888G>A (p.Val32630Ile) http://identifiers.org/clinvar/196654 ^@ NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) http://identifiers.org/clinvar/196655 ^@ NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) http://identifiers.org/clinvar/196656 ^@ NM_001267550.2(TTN):c.105805delA (p.Thr35269Glnfs) http://identifiers.org/clinvar/196657 ^@ NM_001267550.2(TTN):c.107163_107167delTACTT (p.Phe35721Leufs) http://identifiers.org/clinvar/196658 ^@ NM_000093.4(COL5A1):c.2593-3C>T http://identifiers.org/clinvar/196659 ^@ NM_000392.4(ABCC2):c.4314C>T (p.Ser1438=) http://identifiers.org/clinvar/196660 ^@ NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) http://identifiers.org/clinvar/196661 ^@ NM_000445.4(PLEC):c.4029C>T (p.Tyr1343=) http://identifiers.org/clinvar/196662 ^@ NM_000445.4(PLEC):c.4109G>A (p.Arg1370His) http://identifiers.org/clinvar/196663 ^@ NM_000552.4(VWF):c.5313G>T (p.Gly1771=) http://identifiers.org/clinvar/196664 ^@ NM_000552.4(VWF):c.5338T>C (p.Tyr1780His) http://identifiers.org/clinvar/196665 ^@ NM_000552.4(VWF):c.5369C>T (p.Pro1790Leu) http://identifiers.org/clinvar/196666 ^@ NM_000552.4(VWF):c.5379A>G (p.Ser1793=) http://identifiers.org/clinvar/196667 ^@ NM_000552.4(VWF):c.5406C>T (p.Asp1802=) http://identifiers.org/clinvar/196668 ^@ NM_000553.4(WRN):c.3627T>A (p.Ala1209=) http://identifiers.org/clinvar/196669 ^@ NM_000642.2(AGL):c.4210G>A (p.Ala1404Thr) http://identifiers.org/clinvar/196670 ^@ NM_020920.3(CHD8):c.5248G>A (p.Glu1750Lys) http://identifiers.org/clinvar/196671 ^@ NM_020920.3(CHD8):c.5282A>G (p.Asp1761Gly) http://identifiers.org/clinvar/196672 ^@ NM_020920.3(CHD8):c.5395C>T (p.Leu1799=) http://identifiers.org/clinvar/196673 ^@ NM_001297.4(CNGB1):c.3135C>T (p.Asn1045=) http://identifiers.org/clinvar/196674 ^@ NM_001297.4(CNGB1):c.3115G>A (p.Gly1039Arg) http://identifiers.org/clinvar/196675 ^@ NM_001429.3(EP300):c.5259C>T (p.Cys1753=) http://identifiers.org/clinvar/196676 ^@ NM_001429.3(EP300):c.5957C>T (p.Pro1986Leu) http://identifiers.org/clinvar/196677 ^@ NM_001429.3(EP300):c.6713A>G (p.Asn2238Ser) http://identifiers.org/clinvar/196678 ^@ NM_001429.3(EP300):c.6729C>T (p.Gly2243=) http://identifiers.org/clinvar/196679 ^@ NM_001844.4(COL2A1):c.2015G>C (p.Gly672Ala) http://identifiers.org/clinvar/196680 ^@ NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) http://identifiers.org/clinvar/196681 ^@ NM_002458.2(MUC5B):c.4389C>T (p.Thr1463=) http://identifiers.org/clinvar/196682 ^@ NM_002458.2(MUC5B):c.4797T>C (p.Ser1599=) http://identifiers.org/clinvar/196683 ^@ NM_003482.3(KMT2D):c.6235-6C>G http://identifiers.org/clinvar/196684 ^@ NM_003482.3(KMT2D):c.6649C>T (p.Arg2217Cys) http://identifiers.org/clinvar/196685 ^@ NM_003482.3(KMT2D):c.7201C>T (p.Arg2401Cys) http://identifiers.org/clinvar/196686 ^@ NM_003482.3(KMT2D):c.6739C>T (p.Pro2247Ser) http://identifiers.org/clinvar/196687 ^@ NM_003482.3(KMT2D):c.6345C>T (p.Ser2115=) http://identifiers.org/clinvar/196688 ^@ NM_003482.3(KMT2D):c.7251C>T (p.Ser2417=) http://identifiers.org/clinvar/196689 ^@ NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) http://identifiers.org/clinvar/196690 ^@ NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) http://identifiers.org/clinvar/196691 ^@ NM_003482.3(KMT2D):c.7375_7376delTC (p.Ser2459Profs) http://identifiers.org/clinvar/196692 ^@ NM_003482.3(KMT2D):c.7903C>T (p.Arg2635Ter) http://identifiers.org/clinvar/196693 ^@ NM_003482.3(KMT2D):c.6349C>T (p.Pro2117Ser) http://identifiers.org/clinvar/196694 ^@ NM_003494.3(DYSF):c.3349-2A>G http://identifiers.org/clinvar/196695 ^@ NM_004006.2(DMD):c.4315A>T (p.Arg1439Ter) http://identifiers.org/clinvar/196696 ^@ NM_004380.2(CREBBP):c.6746G>A (p.Arg2249His) http://identifiers.org/clinvar/196697 ^@ NM_004380.2(CREBBP):c.5517C>T (p.Pro1839=) http://identifiers.org/clinvar/196698 ^@ NM_004380.2(CREBBP):c.5969_5977delCCCCGGGGA (p.Thr1990_Gly1992del) http://identifiers.org/clinvar/196699 ^@ NM_004380.2(CREBBP):c.5843C>T (p.Pro1948Leu) http://identifiers.org/clinvar/196700 ^@ NM_004380.2(CREBBP):c.6452G>C (p.Arg2151Pro) http://identifiers.org/clinvar/196702 ^@ NM_014014.4(SNRNP200):c.4172T>G (p.Met1391Arg) http://identifiers.org/clinvar/196703 ^@ NM_014989.5(RIMS1):c.4606A>G (p.Thr1536Ala) http://identifiers.org/clinvar/196704 ^@ NM_014989.5(RIMS1):c.4506-5G>A http://identifiers.org/clinvar/196705 ^@ NM_016239.3(MYO15A):c.6623C>T (p.Pro2208Leu) http://identifiers.org/clinvar/196706 ^@ NM_017780.3(CHD7):c.6437T>C (p.Leu2146Pro) http://identifiers.org/clinvar/196707 ^@ NM_017780.3(CHD7):c.6529G>T (p.Glu2177Ter) http://identifiers.org/clinvar/196708 ^@ NM_017780.3(CHD7):c.6771C>T (p.Pro2257=) http://identifiers.org/clinvar/196709 ^@ NM_017780.3(CHD7):c.6308G>A (p.Gly2103Asp) http://identifiers.org/clinvar/196710 ^@ NM_017780.3(CHD7):c.6747T>A (p.Asp2249Glu) http://identifiers.org/clinvar/196711 ^@ NM_023073.3(C5orf42):c.5928G>A (p.Gly1976=) http://identifiers.org/clinvar/196712 ^@ NM_025074.6(FRAS1):c.4308+10G>T http://identifiers.org/clinvar/196713 ^@ NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) http://identifiers.org/clinvar/196714 ^@ NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) http://identifiers.org/clinvar/196715 ^@ NM_015384.4(NIPBL):c.5808+2T>G http://identifiers.org/clinvar/196716 ^@ NM_000445.4(PLEC):c.7348G>A (p.Ala2450Thr) http://identifiers.org/clinvar/196717 ^@ NM_000445.4(PLEC):c.4732C>T (p.Arg1578Cys) http://identifiers.org/clinvar/196718 ^@ NM_000445.4(PLEC):c.4920G>A (p.Arg1640=) http://identifiers.org/clinvar/196719 ^@ NM_000445.4(PLEC):c.4662G>A (p.Ala1554=) http://identifiers.org/clinvar/196720 ^@ NM_000445.4(PLEC):c.5471G>A (p.Arg1824His) http://identifiers.org/clinvar/196721 ^@ NM_000445.4(PLEC):c.6867G>A (p.Thr2289=) http://identifiers.org/clinvar/196722 ^@ NM_000445.4(PLEC):c.4605G>A (p.Gln1535=) http://identifiers.org/clinvar/196723 ^@ NM_001256850.1(TTN):c.102454+1G>A http://identifiers.org/clinvar/196724 ^@ NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys) http://identifiers.org/clinvar/196725 ^@ NM_133379.4(TTN):c.*265+217785T>C http://identifiers.org/clinvar/196726 ^@ NM_000089.3(COL1A2):c.1971+1G>A http://identifiers.org/clinvar/196727 ^@ NM_000089.3(COL1A2):c.1966G>A (p.Glu656Lys) http://identifiers.org/clinvar/196728 ^@ NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) http://identifiers.org/clinvar/196729 ^@ NM_000392.4(ABCC2):c.4527C>T (p.Asn1509=) http://identifiers.org/clinvar/196730 ^@ NM_000392.4(ABCC2):c.4509-9T>C http://identifiers.org/clinvar/196731 ^@ NM_000393.4(COL5A2):c.2101C>A (p.Pro701Thr) http://identifiers.org/clinvar/196732 ^@ NM_000445.4(PLEC):c.5472C>T (p.Arg1824=) http://identifiers.org/clinvar/196733 ^@ NM_000445.4(PLEC):c.5959C>T (p.Arg1987Cys) http://identifiers.org/clinvar/196734 ^@ NM_000445.4(PLEC):c.5793C>T (p.Ser1931=) http://identifiers.org/clinvar/196735 ^@ NM_000445.4(PLEC):c.6046C>T (p.Arg2016Cys) http://identifiers.org/clinvar/196736 ^@ NM_000445.4(PLEC):c.4157G>A (p.Arg1386His) http://identifiers.org/clinvar/196737 ^@ NM_000445.4(PLEC):c.5134C>T (p.Arg1712Trp) http://identifiers.org/clinvar/196738 ^@ NM_000445.4(PLEC):c.6303C>T (p.Ser2101=) http://identifiers.org/clinvar/196739 ^@ NM_000445.4(PLEC):c.4477C>T (p.Arg1493Cys) http://identifiers.org/clinvar/196740 ^@ NM_000445.4(PLEC):c.6839C>T (p.Ala2280Val) http://identifiers.org/clinvar/196741 ^@ NM_000445.4(PLEC):c.6392C>T (p.Ala2131Val) http://identifiers.org/clinvar/196742 ^@ NM_000445.4(PLEC):c.4164G>A (p.Arg1388=) http://identifiers.org/clinvar/196743 ^@ NM_000445.4(PLEC):c.5621G>A (p.Arg1874Gln) http://identifiers.org/clinvar/196744 ^@ NM_000445.4(PLEC):c.6046C>A (p.Arg2016Ser) http://identifiers.org/clinvar/196745 ^@ NM_000445.4(PLEC):c.6384G>A (p.Glu2128=) http://identifiers.org/clinvar/196746 ^@ NM_000445.4(PLEC):c.5877G>A (p.Ala1959=) http://identifiers.org/clinvar/196747 ^@ NM_000445.4(PLEC):c.7275C>T (p.Arg2425=) http://identifiers.org/clinvar/196748 ^@ NM_000445.4(PLEC):c.5105G>A (p.Arg1702Gln) http://identifiers.org/clinvar/196749 ^@ NM_000445.4(PLEC):c.4314G>A (p.Ala1438=) http://identifiers.org/clinvar/196750 ^@ NM_000445.4(PLEC):c.6675C>T (p.Thr2225=) http://identifiers.org/clinvar/196751 ^@ NM_000445.4(PLEC):c.7464G>T (p.Lys2488Asn) http://identifiers.org/clinvar/196752 ^@ NM_000445.4(PLEC):c.6617G>A (p.Arg2206Gln) http://identifiers.org/clinvar/196753 ^@ NM_000445.4(PLEC):c.7143G>A (p.Ala2381=) http://identifiers.org/clinvar/196754 ^@ NM_000445.4(PLEC):c.6164C>T (p.Ala2055Val) http://identifiers.org/clinvar/196755 ^@ NM_000445.4(PLEC):c.7269G>A (p.Gln2423=) http://identifiers.org/clinvar/196756 ^@ NM_000445.4(PLEC):c.6243C>T (p.His2081=) http://identifiers.org/clinvar/196757 ^@ NM_000445.4(PLEC):c.5385G>A (p.Leu1795=) http://identifiers.org/clinvar/196758 ^@ NM_000445.4(PLEC):c.5954C>T (p.Thr1985Met) http://identifiers.org/clinvar/196759 ^@ NM_000445.4(PLEC):c.6029G>A (p.Arg2010His) http://identifiers.org/clinvar/196760 ^@ NM_000445.4(PLEC):c.7182G>A (p.Thr2394=) http://identifiers.org/clinvar/196761 ^@ NM_000445.4(PLEC):c.6003G>C (p.Gln2001His) http://identifiers.org/clinvar/196762 ^@ NM_000445.4(PLEC):c.4607G>A (p.Arg1536His) http://identifiers.org/clinvar/196763 ^@ NM_000445.4(PLEC):c.6082G>A (p.Ala2028Thr) http://identifiers.org/clinvar/196764 ^@ NM_000445.4(PLEC):c.5552C>T (p.Ala1851Val) http://identifiers.org/clinvar/196765 ^@ NM_000445.4(PLEC):c.6279G>T (p.Gln2093His) http://identifiers.org/clinvar/196766 ^@ NM_000445.4(PLEC):c.6567A>C (p.Ala2189=) http://identifiers.org/clinvar/196767 ^@ NM_000445.4(PLEC):c.5396C>T (p.Ala1799Val) http://identifiers.org/clinvar/196768 ^@ NM_001083961.1(WDR62):c.4403C>T (p.Ala1468Val) http://identifiers.org/clinvar/196769 ^@ NM_001127221.1(CACNA1A):c.5017C>T (p.Arg1673Cys) http://identifiers.org/clinvar/196770 ^@ NM_020920.3(CHD8):c.5555C>T (p.Pro1852Leu) http://identifiers.org/clinvar/196771 ^@ NM_020920.3(CHD8):c.5610A>G (p.Gln1870=) http://identifiers.org/clinvar/196772 ^@ NM_001297.4(CNGB1):c.3339C>T (p.Leu1113=) http://identifiers.org/clinvar/196773 ^@ NM_001297.4(CNGB1):c.3305G>A (p.Arg1102Gln) http://identifiers.org/clinvar/196774 ^@ NM_001458.4(FLNC):c.5375C>T (p.Ala1792Val) http://identifiers.org/clinvar/196775 ^@ NM_001845.5(COL4A1):c.2570C>T (p.Ser857Leu) http://identifiers.org/clinvar/196776 ^@ NM_001848.2(COL6A1):c.2220G>A (p.Pro740=) http://identifiers.org/clinvar/196777 ^@ NM_001852.3(COL9A2):c.2019G>A (p.Ser673=) http://identifiers.org/clinvar/196778 ^@ NM_001852.3(COL9A2):c.1982C>T (p.Pro661Leu) http://identifiers.org/clinvar/196779 ^@ NM_001854.3(COL11A1):c.2578T>A (p.Phe860Ile) http://identifiers.org/clinvar/196780 ^@ NM_001999.3(FBN2):c.4151G>A (p.Cys1384Tyr) http://identifiers.org/clinvar/196781 ^@ NM_001999.3(FBN2):c.4100-9G>T http://identifiers.org/clinvar/196782 ^@ NM_003482.3(KMT2D):c.8047-7dupT http://identifiers.org/clinvar/196783 ^@ NM_005045.3(RELN):c.4594A>G (p.Ile1532Val) http://identifiers.org/clinvar/196785 ^@ NM_005120.2(MED12):c.4416-35_4416-16dup20 http://identifiers.org/clinvar/196786 ^@ NM_006031.5(PCNT):c.7136C>T (p.Pro2379Leu) http://identifiers.org/clinvar/196787 ^@ NM_006445.3(PRPF8):c.5001C>T (p.Arg1667=) http://identifiers.org/clinvar/196788 ^@ NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) http://identifiers.org/clinvar/196789 ^@ NM_017780.3(CHD7):c.6822T>C (p.Ala2274=) http://identifiers.org/clinvar/196790 ^@ NM_017890.4(VPS13B):c.5025-9A>G http://identifiers.org/clinvar/196791 ^@ NM_022124.5(CDH23):c.3802G>A (p.Val1268Met) http://identifiers.org/clinvar/196792 ^@ NM_024408.3(NOTCH2):c.5871G>A (p.Glu1957=) http://identifiers.org/clinvar/196793 ^@ NM_025114.3(CEP290):c.4150C>T (p.Arg1384Cys) http://identifiers.org/clinvar/196794 ^@ NM_025114.3(CEP290):c.4031T>C (p.Val1344Ala) http://identifiers.org/clinvar/196795 ^@ NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) http://identifiers.org/clinvar/196796 ^@ NM_031407.6(HUWE1):c.3663G>A (p.Ser1221=) http://identifiers.org/clinvar/196797 ^@ NM_032119.3(ADGRV1):c.7095G>A (p.Leu2365=) http://identifiers.org/clinvar/196799 ^@ NM_033071.3(SYNE1):c.4128T>A (p.Phe1376Leu) http://identifiers.org/clinvar/196800 ^@ NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) http://identifiers.org/clinvar/196801 ^@ NM_001256850.1(TTN):c.7523A>G (p.His2508Arg) http://identifiers.org/clinvar/196802 ^@ NM_138694.3(PKHD1):c.3686G>C (p.Trp1229Ser) http://identifiers.org/clinvar/196803 ^@ NM_138694.3(PKHD1):c.4035C>A (p.Gly1345=) http://identifiers.org/clinvar/196804 ^@ NM_138694.3(PKHD1):c.5100C>T (p.Thr1700=) http://identifiers.org/clinvar/196805 ^@ NM_138694.3(PKHD1):c.4920A>G (p.Val1640=) http://identifiers.org/clinvar/196806 ^@ NM_138694.3(PKHD1):c.4613G>A (p.Cys1538Tyr) http://identifiers.org/clinvar/196807 ^@ NM_138694.3(PKHD1):c.5060T>C (p.Ile1687Thr) http://identifiers.org/clinvar/196808 ^@ NM_000445.4(PLEC):c.8688G>A (p.Glu2896=) http://identifiers.org/clinvar/196809 ^@ NM_000445.4(PLEC):c.12161A>G (p.Gln4054Arg) http://identifiers.org/clinvar/196810 ^@ NM_000445.4(PLEC):c.13656G>A (p.Ser4552=) http://identifiers.org/clinvar/196811 ^@ NM_000350.2(ABCA4):c.4754G>A (p.Arg1585Gln) http://identifiers.org/clinvar/196812 ^@ NM_000445.4(PLEC):c.11801C>T (p.Thr3934Met) http://identifiers.org/clinvar/196813 ^@ NM_000445.4(PLEC):c.10825G>A (p.Gly3609Ser) http://identifiers.org/clinvar/196814 ^@ NM_000445.4(PLEC):c.13152C>T (p.Cys4384=) http://identifiers.org/clinvar/196815 ^@ NM_000445.4(PLEC):c.13614C>T (p.Ser4538=) http://identifiers.org/clinvar/196816 ^@ NM_000445.4(PLEC):c.8263A>G (p.Ile2755Val) http://identifiers.org/clinvar/196817 ^@ NM_000445.4(PLEC):c.8587G>A (p.Asp2863Asn) http://identifiers.org/clinvar/196818 ^@ NM_000445.4(PLEC):c.8867A>C (p.Asn2956Thr) http://identifiers.org/clinvar/196819 ^@ NM_000445.4(PLEC):c.10579C>T (p.Arg3527Cys) http://identifiers.org/clinvar/196820 ^@ NM_000445.4(PLEC):c.10614C>G (p.Gly3538=) http://identifiers.org/clinvar/196821 ^@ NM_000445.4(PLEC):c.11561G>C (p.Gly3854Ala) http://identifiers.org/clinvar/196822 ^@ NM_000445.4(PLEC):c.8132G>A (p.Arg2711Gln) http://identifiers.org/clinvar/196823 ^@ NM_000445.4(PLEC):c.9414G>A (p.Gly3138=) http://identifiers.org/clinvar/196824 ^@ NM_000445.4(PLEC):c.12271G>A (p.Glu4091Lys) http://identifiers.org/clinvar/196825 ^@ NM_000445.4(PLEC):c.12898C>T (p.Pro4300Ser) http://identifiers.org/clinvar/196826 ^@ NM_000445.4(PLEC):c.11917C>T (p.Arg3973Trp) http://identifiers.org/clinvar/196827 ^@ NM_000445.4(PLEC):c.11438T>C (p.Met3813Thr) http://identifiers.org/clinvar/196828 ^@ NM_000445.4(PLEC):c.11288C>T (p.Pro3763Leu) http://identifiers.org/clinvar/196829 ^@ NM_000445.4(PLEC):c.11410G>A (p.Glu3804Lys) http://identifiers.org/clinvar/196830 ^@ NM_000445.4(PLEC):c.10302G>T (p.Leu3434=) http://identifiers.org/clinvar/196831 ^@ NM_000445.4(PLEC):c.12818G>A (p.Arg4273His) http://identifiers.org/clinvar/196832 ^@ NM_000445.4(PLEC):c.12313G>A (p.Glu4105Lys) http://identifiers.org/clinvar/196833 ^@ NM_000445.4(PLEC):c.10288C>T (p.Arg3430Trp) http://identifiers.org/clinvar/196834 ^@ NM_000445.4(PLEC):c.9050G>C (p.Arg3017Thr) http://identifiers.org/clinvar/196835 ^@ NM_000445.4(PLEC):c.11805G>T (p.Ala3935=) http://identifiers.org/clinvar/196836 ^@ NM_000445.4(PLEC):c.13368C>A (p.Gly4456=) http://identifiers.org/clinvar/196837 ^@ NM_000445.4(PLEC):c.10494G>A (p.Thr3498=) http://identifiers.org/clinvar/196838 ^@ NM_000445.4(PLEC):c.9648G>A (p.Pro3216=) http://identifiers.org/clinvar/196839 ^@ NM_000445.4(PLEC):c.9115G>A (p.Glu3039Lys) http://identifiers.org/clinvar/196840 ^@ NM_000445.4(PLEC):c.8698G>A (p.Glu2900Lys) http://identifiers.org/clinvar/196841 ^@ NM_000445.4(PLEC):c.9130C>T (p.Arg3044Trp) http://identifiers.org/clinvar/196842 ^@ NM_000445.4(PLEC):c.8317C>T (p.Arg2773Trp) http://identifiers.org/clinvar/196843 ^@ NM_000445.4(PLEC):c.13059C>T (p.Thr4353=) http://identifiers.org/clinvar/196844 ^@ NM_000445.4(PLEC):c.9556G>A (p.Ala3186Thr) http://identifiers.org/clinvar/196845 ^@ NM_000445.4(PLEC):c.10525C>T (p.Arg3509Cys) http://identifiers.org/clinvar/196846 ^@ NM_000445.4(PLEC):c.8831T>G (p.Phe2944Cys) http://identifiers.org/clinvar/196847 ^@ NM_000445.4(PLEC):c.12752C>G (p.Ala4251Gly) http://identifiers.org/clinvar/196848 ^@ NM_000445.4(PLEC):c.11147C>T (p.Thr3716Met) http://identifiers.org/clinvar/196849 ^@ NM_000445.4(PLEC):c.10284C>T (p.Pro3428=) http://identifiers.org/clinvar/196850 ^@ NM_000445.4(PLEC):c.7992G>A (p.Ala2664=) http://identifiers.org/clinvar/196851 ^@ NM_000445.4(PLEC):c.11654C>T (p.Thr3885Met) http://identifiers.org/clinvar/196852 ^@ NM_000445.4(PLEC):c.12723C>T (p.Ile4241=) http://identifiers.org/clinvar/196853 ^@ NM_000445.4(PLEC):c.13192G>A (p.Ala4398Thr) http://identifiers.org/clinvar/196854 ^@ NM_000445.4(PLEC):c.13073C>T (p.Pro4358Leu) http://identifiers.org/clinvar/196855 ^@ NM_000445.4(PLEC):c.10688C>T (p.Thr3563Met) http://identifiers.org/clinvar/196856 ^@ NM_000445.4(PLEC):c.12682C>T (p.Arg4228Cys) http://identifiers.org/clinvar/196857 ^@ NM_000445.4(PLEC):c.10635T>G (p.His3545Gln) http://identifiers.org/clinvar/196858 ^@ NM_000445.4(PLEC):c.7903G>A (p.Ala2635Thr) http://identifiers.org/clinvar/196859 ^@ NM_000445.4(PLEC):c.9234C>T (p.Ser3078=) http://identifiers.org/clinvar/196860 ^@ NM_001127221.1(CACNA1A):c.5098G>A (p.Ala1700Thr) http://identifiers.org/clinvar/196861 ^@ NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) http://identifiers.org/clinvar/196862 ^@ NM_001457.3(FLNB):c.5445C>T (p.Tyr1815=) http://identifiers.org/clinvar/196863 ^@ NM_001844.4(COL2A1):c.2156G>T (p.Arg719Leu) http://identifiers.org/clinvar/196864 ^@ NM_004006.2(DMD):c.4523delT (p.Leu1508Cysfs) http://identifiers.org/clinvar/196865 ^@ NM_001271208.1(NEB):c.3348C>T (p.Asn1116=) http://identifiers.org/clinvar/196866 ^@ NM_004999.3(MYO6):c.3430A>G (p.Asn1144Asp) http://identifiers.org/clinvar/196867 ^@ NM_005045.3(RELN):c.4872A>G (p.Gln1624=) http://identifiers.org/clinvar/196868 ^@ NM_006445.3(PRPF8):c.5352C>T (p.Asn1784=) http://identifiers.org/clinvar/196870 ^@ NM_017780.3(CHD7):c.6995G>A (p.Trp2332Ter) http://identifiers.org/clinvar/196873 ^@ NM_033056.3(PCDH15):c.5630_5633delGAGA (p.Arg1877Asnfs) http://identifiers.org/clinvar/196874 ^@ NM_033056.3(PCDH15):c.5010_5015delATTCTC (p.Phe1671_Ser1672del) http://identifiers.org/clinvar/196875 ^@ NM_033071.3(SYNE1):c.4188A>G (p.Thr1396=) http://identifiers.org/clinvar/196878 ^@ NM_138694.3(PKHD1):c.5325_5326delAG (p.Val1776Profs) http://identifiers.org/clinvar/196879 ^@ NM_182914.2(SYNE2):c.4846T>C (p.Phe1616Leu) http://identifiers.org/clinvar/196880 ^@ NM_001287174.1(ABCC8):c.4163_4165delTCT (p.Phe1388del) http://identifiers.org/clinvar/196881 ^@ NM_000426.3(LAMA2):c.4926A>G (p.Thr1642=) http://identifiers.org/clinvar/196882 ^@ NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) http://identifiers.org/clinvar/196883 ^@ NM_000540.2(RYR1):c.5336C>T (p.Pro1779Leu) http://identifiers.org/clinvar/196884 ^@ NM_000548.4(TSC2):c.4415delG (p.Gly1472Alafs) http://identifiers.org/clinvar/196885 ^@ NM_000548.4(TSC2):c.4077C>T (p.Ile1359=) http://identifiers.org/clinvar/196886 ^@ NM_001184.3(ATR):c.5739-7_5739-6delCC http://identifiers.org/clinvar/196887 ^@ NM_001184.3(ATR):c.5739-14_5739-9delGTTACT http://identifiers.org/clinvar/196888 ^@ NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys) http://identifiers.org/clinvar/196889 ^@ NM_001844.4(COL2A1):c.2286G>A (p.Gly762=) http://identifiers.org/clinvar/196890 ^@ NM_001851.4(COL9A1):c.2159G>A (p.Arg720Gln) http://identifiers.org/clinvar/196891 ^@ NM_002290.4(LAMA4):c.4657C>A (p.Arg1553=) http://identifiers.org/clinvar/196892 ^@ NM_003482.3(KMT2D):c.9212G>A (p.Arg3071Lys) http://identifiers.org/clinvar/196893 ^@ NM_003482.3(KMT2D):c.8924G>A (p.Arg2975His) http://identifiers.org/clinvar/196894 ^@ NM_003482.3(KMT2D):c.9502A>G (p.Met3168Val) http://identifiers.org/clinvar/196895 ^@ NM_003494.3(DYSF):c.3760C>T (p.Arg1254Trp) http://identifiers.org/clinvar/196896 ^@ NM_004006.2(DMD):c.4811C>G (p.Pro1604Arg) http://identifiers.org/clinvar/196897 ^@ NM_004006.2(DMD):c.4675-2A>G http://identifiers.org/clinvar/196898 ^@ NM_004543.4(NEB):c.3637G>A (p.Val1213Ile) http://identifiers.org/clinvar/196899 ^@ NM_001271208.1(NEB):c.3721G>T (p.Val1241Leu) http://identifiers.org/clinvar/196900 ^@ NM_004543.4(NEB):c.3623T>C (p.Ile1208Thr) http://identifiers.org/clinvar/196901 ^@ NM_005045.3(RELN):c.5200C>G (p.Leu1734Val) http://identifiers.org/clinvar/196902 ^@ NM_005045.3(RELN):c.4937-4_4937-3insTT http://identifiers.org/clinvar/196903 ^@ NM_005045.3(RELN):c.4937-4delT http://identifiers.org/clinvar/196904 ^@ NM_005120.2(MED12):c.4620G>A (p.Val1540=) http://identifiers.org/clinvar/196905 ^@ NM_005120.2(MED12):c.4669T>C (p.Trp1557Arg) http://identifiers.org/clinvar/196906 ^@ NM_005529.6(HSPG2):c.4234G>A (p.Gly1412Ser) http://identifiers.org/clinvar/196907 ^@ NM_006031.5(PCNT):c.7464C>G (p.Leu2488=) http://identifiers.org/clinvar/196908 ^@ NM_006662.2(SRCAP):c.7853A>G (p.Asn2618Ser) http://identifiers.org/clinvar/196909 ^@ NM_006662.2(SRCAP):c.9444T>C (p.Ser3148=) http://identifiers.org/clinvar/196910 ^@ NM_006662.2(SRCAP):c.7173G>A (p.Pro2391=) http://identifiers.org/clinvar/196911 ^@ NM_006662.2(SRCAP):c.8380C>T (p.Arg2794Cys) http://identifiers.org/clinvar/196912 ^@ NM_006662.2(SRCAP):c.7248C>T (p.Ser2416=) http://identifiers.org/clinvar/196913 ^@ NM_006946.2(SPTBN2):c.6502-5C>T http://identifiers.org/clinvar/196914 ^@ NM_017617.4(NOTCH1):c.6777T>C (p.Gly2259=) http://identifiers.org/clinvar/196915 ^@ NM_017780.3(CHD7):c.7209G>A (p.Arg2403=) http://identifiers.org/clinvar/196916 ^@ NM_017780.3(CHD7):c.7595C>T (p.Thr2532Met) http://identifiers.org/clinvar/196917 ^@ NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) http://identifiers.org/clinvar/196918 ^@ NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) http://identifiers.org/clinvar/196919 ^@ NM_017890.4(VPS13B):c.5471G>A (p.Arg1824His) http://identifiers.org/clinvar/196920 ^@ NM_017890.4(VPS13B):c.5836A>G (p.Thr1946Ala) http://identifiers.org/clinvar/196921 ^@ NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) http://identifiers.org/clinvar/196922 ^@ NM_023073.3(C5orf42):c.6957A>G (p.Gln2319=) http://identifiers.org/clinvar/196923 ^@ NM_024408.3(NOTCH2):c.6056G>A (p.Arg2019Gln) http://identifiers.org/clinvar/196924 ^@ NM_024408.3(NOTCH2):c.7413G>A (p.Ala2471=) http://identifiers.org/clinvar/196925 ^@ NM_024408.3(NOTCH2):c.6956C>T (p.Ala2319Val) http://identifiers.org/clinvar/196926 ^@ NM_024408.3(NOTCH2):c.6766C>T (p.Arg2256Cys) http://identifiers.org/clinvar/196927 ^@ NM_024408.3(NOTCH2):c.6997G>A (p.Ala2333Thr) http://identifiers.org/clinvar/196928 ^@ NM_025074.6(FRAS1):c.4579C>T (p.Arg1527Trp) http://identifiers.org/clinvar/196929 ^@ NM_033071.3(SYNE1):c.4393_4394delCT (p.Leu1465Valfs) http://identifiers.org/clinvar/196930 ^@ NM_001267550.2(TTN):c.8013C>A (p.Gly2671=) http://identifiers.org/clinvar/196931 ^@ NM_015384.4(NIPBL):c.6108+1G>C http://identifiers.org/clinvar/196932 ^@ NM_138694.3(PKHD1):c.5588G>A (p.Gly1863Asp) http://identifiers.org/clinvar/196933 ^@ NM_206933.2(USH2A):c.6601C>T (p.Gln2201Ter) http://identifiers.org/clinvar/196934 ^@ NM_000089.3(COL1A2):c.2099G>A (p.Gly700Asp) http://identifiers.org/clinvar/196935 ^@ NM_000260.3(MYO7A):c.4757A>G (p.Asn1586Ser) http://identifiers.org/clinvar/196936 ^@ NM_000393.4(COL5A2):c.2376A>C (p.Gly792=) http://identifiers.org/clinvar/196937 ^@ NM_000426.3(LAMA2):c.4969G>A (p.Val1657Met) http://identifiers.org/clinvar/196938 ^@ NM_000489.4(ATRX):c.7366_7367delAT (p.Met2456Glufs) http://identifiers.org/clinvar/196939 ^@ NM_000540.2(RYR1):c.5736G>A (p.Glu1912=) http://identifiers.org/clinvar/196940 ^@ NM_000540.2(RYR1):c.5671_5673delGAG (p.Glu1891del) http://identifiers.org/clinvar/196941 ^@ NM_001130438.2(SPTAN1):c.4580A>G (p.Asn1527Ser) http://identifiers.org/clinvar/196942 ^@ NM_001130438.2(SPTAN1):c.4558G>A (p.Gly1520Arg) http://identifiers.org/clinvar/196943 ^@ NM_020920.3(CHD8):c.6199G>A (p.Glu2067Lys) http://identifiers.org/clinvar/196944 ^@ NM_001277115.1(DNAH11):c.5936T>C (p.Leu1979Pro) http://identifiers.org/clinvar/196945 ^@ NM_001110556.1(FLNA):c.5854delG (p.Val1952Serfs) http://identifiers.org/clinvar/196946 ^@ NM_001457.3(FLNB):c.5769C>T (p.Ala1923=) http://identifiers.org/clinvar/196947 ^@ NM_001845.5(COL4A1):c.2903G>A (p.Arg968Gln) http://identifiers.org/clinvar/196948 ^@ NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe) http://identifiers.org/clinvar/196949 ^@ NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) http://identifiers.org/clinvar/196950 ^@ NM_001848.2(COL6A1):c.2891G>A (p.Arg964Gln) http://identifiers.org/clinvar/196951 ^@ NM_001848.2(COL6A1):c.2660A>G (p.Glu887Gly) http://identifiers.org/clinvar/196952 ^@ NM_001848.2(COL6A1):c.2507G>A (p.Gly836Asp) http://identifiers.org/clinvar/196953 ^@ NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) http://identifiers.org/clinvar/196954 ^@ NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) http://identifiers.org/clinvar/196955 ^@ NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) http://identifiers.org/clinvar/196956 ^@ NM_005045.3(RELN):c.5338G>A (p.Ala1780Thr) http://identifiers.org/clinvar/196957 ^@ NM_005045.3(RELN):c.5350G>A (p.Val1784Met) http://identifiers.org/clinvar/196958 ^@ NM_005045.3(RELN):c.5344C>T (p.Arg1782Cys) http://identifiers.org/clinvar/196959 ^@ NM_015074.3(KIF1B):c.3787A>G (p.Lys1263Glu) http://identifiers.org/clinvar/196960 ^@ NM_032119.3(ADGRV1):c.8156-6T>C http://identifiers.org/clinvar/196961 ^@ NM_032119.3(ADGRV1):c.8204delA (p.Asn2735Metfs) http://identifiers.org/clinvar/196962 ^@ NM_172364.4(CACNA2D4):c.3065C>T (p.Pro1022Leu) http://identifiers.org/clinvar/196963 ^@ NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) http://identifiers.org/clinvar/196964 ^@ NM_000089.3(COL1A2):c.2187+6T>A http://identifiers.org/clinvar/196965 ^@ NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) http://identifiers.org/clinvar/196966 ^@ NM_000719.6(CACNA1C):c.4418C>G (p.Ala1473Gly) http://identifiers.org/clinvar/196967 ^@ NM_001035.2(RYR2):c.4736T>C (p.Val1579Ala) http://identifiers.org/clinvar/196968 ^@ NM_001080463.1(DYNC2H1):c.5559-8T>C http://identifiers.org/clinvar/196969 ^@ NM_001080522.2(CC2D2A):c.4438C>T (p.Pro1480Ser) http://identifiers.org/clinvar/196970 ^@ NM_001369.2(DNAH5):c.5883-6A>G http://identifiers.org/clinvar/196971 ^@ NM_001457.3(FLNB):c.6000T>C (p.Gly2000=) http://identifiers.org/clinvar/196972 ^@ NM_001851.4(COL9A1):c.2436G>T (p.Gln812His) http://identifiers.org/clinvar/196973 ^@ NM_001851.4(COL9A1):c.2348G>A (p.Arg783His) http://identifiers.org/clinvar/196974 ^@ NM_001875.4(CPS1):c.4252C>T (p.Pro1418Ser) http://identifiers.org/clinvar/196975 ^@ NM_002471.3(MYH6):c.5491G>A (p.Glu1831Lys) http://identifiers.org/clinvar/196976 ^@ NM_003494.3(DYSF):c.3903+9G>A http://identifiers.org/clinvar/196977 ^@ NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) http://identifiers.org/clinvar/196978 ^@ NM_004369.3(COL6A3):c.7175-6C>G http://identifiers.org/clinvar/196979 ^@ NM_004369.3(COL6A3):c.7224C>G (p.Asp2408Glu) http://identifiers.org/clinvar/196980 ^@ NM_004369.3(COL6A3):c.7514G>T (p.Gly2505Val) http://identifiers.org/clinvar/196981 ^@ NM_004369.3(COL6A3):c.7398G>A (p.Lys2466=) http://identifiers.org/clinvar/196982 ^@ NM_004369.3(COL6A3):c.7441A>G (p.Thr2481Ala) http://identifiers.org/clinvar/196983 ^@ NM_005045.3(RELN):c.5360G>C (p.Arg1787Pro) http://identifiers.org/clinvar/196984 ^@ NM_014639.3(TTC37):c.3710C>T (p.Ala1237Val) http://identifiers.org/clinvar/196985 ^@ NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) http://identifiers.org/clinvar/196986 ^@ NM_025074.6(FRAS1):c.4729A>T (p.Thr1577Ser) http://identifiers.org/clinvar/196987 ^@ NM_032119.3(ADGRV1):c.8369A>G (p.Tyr2790Cys) http://identifiers.org/clinvar/196989 ^@ NM_138694.3(PKHD1):c.5768A>T (p.Gln1923Leu) http://identifiers.org/clinvar/196990 ^@ NM_138694.3(PKHD1):c.5879_5880delCA (p.Thr1960Lysfs) http://identifiers.org/clinvar/196991 ^@ NM_138694.3(PKHD1):c.5908G>C (p.Gly1970Arg) http://identifiers.org/clinvar/196992 ^@ NM_000350.2(ABCA4):c.5219G>A (p.Gly1740Glu) http://identifiers.org/clinvar/196993 ^@ NM_000426.3(LAMA2):c.5260delG (p.Val1754Terfs) http://identifiers.org/clinvar/196994 ^@ NM_000548.4(TSC2):c.4746C>T (p.Ile1582=) http://identifiers.org/clinvar/196995 ^@ NM_000719.6(CACNA1C):c.4611C>T (p.Arg1537=) http://identifiers.org/clinvar/196996 ^@ NM_001035.2(RYR2):c.5712G>A (p.Leu1904=) http://identifiers.org/clinvar/196997 ^@ NM_001080463.1(DYNC2H1):c.5846delA (p.Glu1949Glyfs) http://identifiers.org/clinvar/196998 ^@ NM_001130823.2(DNMT1):c.4428T>G (p.His1476Gln) http://identifiers.org/clinvar/196999 ^@ NM_020920.3(CHD8):c.6783C>T (p.Asp2261=) http://identifiers.org/clinvar/197000 ^@ NM_001458.4(FLNC):c.6005-9T>C http://identifiers.org/clinvar/197001 ^@ NM_001844.4(COL2A1):c.2428G>T (p.Gly810Cys) http://identifiers.org/clinvar/197002 ^@ NM_001851.4(COL9A1):c.2562T>C (p.Pro854=) http://identifiers.org/clinvar/197003 ^@ NM_002334.3(LRP4):c.5357T>A (p.Met1786Lys) http://identifiers.org/clinvar/197004 ^@ NM_003494.3(DYSF):c.3967C>G (p.Gln1323Glu) http://identifiers.org/clinvar/197005 ^@ NM_003494.3(DYSF):c.3904T>C (p.Ser1302Pro) http://identifiers.org/clinvar/197006 ^@ NM_004369.3(COL6A3):c.7706C>G (p.Pro2569Arg) http://identifiers.org/clinvar/197007 ^@ NM_004543.4(NEB):c.4149C>T (p.Thr1383=) http://identifiers.org/clinvar/197008 ^@ NM_001271208.1(NEB):c.4272G>C (p.Thr1424=) http://identifiers.org/clinvar/197009 ^@ NM_005120.2(MED12):c.5400+6C>T http://identifiers.org/clinvar/197010 ^@ NM_005529.6(HSPG2):c.4627-3delT http://identifiers.org/clinvar/197011 ^@ NM_006445.3(PRPF8):c.5943G>C (p.Val1981=) http://identifiers.org/clinvar/197012 ^@ NM_006445.3(PRPF8):c.5794-3C>G http://identifiers.org/clinvar/197013 ^@ NM_017780.3(CHD7):c.8047C>T (p.Pro2683Ser) http://identifiers.org/clinvar/197015 ^@ NM_017890.4(VPS13B):c.6562A>G (p.Ile2188Val) http://identifiers.org/clinvar/197016 ^@ NM_025074.6(FRAS1):c.4958C>T (p.Pro1653Leu) http://identifiers.org/clinvar/197017 ^@ NM_032119.3(ADGRV1):c.8455A>G (p.Ser2819Gly) http://identifiers.org/clinvar/197018 ^@ NM_033071.3(SYNE1):c.4843G>A (p.Ala1615Thr) http://identifiers.org/clinvar/197020 ^@ NM_138694.3(PKHD1):c.6001G>A (p.Glu2001Lys) http://identifiers.org/clinvar/197021 ^@ NM_000069.2(CACNA1S):c.4615C>T (p.Arg1539Cys) http://identifiers.org/clinvar/197022 ^@ NM_000138.4(FBN1):c.4746A>G (p.Thr1582=) http://identifiers.org/clinvar/197023 ^@ NM_000260.3(MYO7A):c.5324T>C (p.Ile1775Thr) http://identifiers.org/clinvar/197024 ^@ NM_000426.3(LAMA2):c.5562+5G>C http://identifiers.org/clinvar/197025 ^@ NM_000548.4(TSC2):c.4919A>C (p.His1640Pro) http://identifiers.org/clinvar/197026 ^@ NM_000719.6(CACNA1C):c.4624-8G>A http://identifiers.org/clinvar/197027 ^@ NM_001080522.2(CC2D2A):c.4858A>C (p.Arg1620=) http://identifiers.org/clinvar/197028 ^@ NM_001127221.1(CACNA1A):c.5688C>T (p.Thr1896=) http://identifiers.org/clinvar/197029 ^@ NM_001458.4(FLNC):c.6309C>T (p.Thr2103=) http://identifiers.org/clinvar/197030 ^@ NM_002334.3(LRP4):c.5489G>A (p.Arg1830Gln) http://identifiers.org/clinvar/197031 ^@ NM_004369.3(COL6A3):c.8344G>A (p.Glu2782Lys) http://identifiers.org/clinvar/197032 ^@ NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) http://identifiers.org/clinvar/197033 ^@ NM_004369.3(COL6A3):c.8415C>T (p.Asn2805=) http://identifiers.org/clinvar/197034 ^@ NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) http://identifiers.org/clinvar/197035 ^@ NM_005691.3(ABCC9):c.4603G>A (p.Ala1535Thr) http://identifiers.org/clinvar/197036 ^@ NM_017780.3(CHD7):c.8446T>C (p.Leu2816=) http://identifiers.org/clinvar/197037 ^@ NM_017780.3(CHD7):c.8366C>T (p.Ala2789Val) http://identifiers.org/clinvar/197038 ^@ NM_017780.3(CHD7):c.8672A>C (p.Asn2891Thr) http://identifiers.org/clinvar/197039 ^@ NM_017780.3(CHD7):c.8556C>T (p.Asp2852=) http://identifiers.org/clinvar/197040 ^@ NM_017780.3(CHD7):c.8453_8463dupACCCTCTGTCA (p.Ala2822Thrfs) http://identifiers.org/clinvar/197041 ^@ NM_017780.3(CHD7):c.8821A>G (p.Lys2941Glu) http://identifiers.org/clinvar/197042 ^@ NM_017780.3(CHD7):c.8672A>G (p.Asn2891Ser) http://identifiers.org/clinvar/197043 ^@ NM_025074.6(FRAS1):c.5046C>G (p.Asp1682Glu) http://identifiers.org/clinvar/197044 ^@ NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter) http://identifiers.org/clinvar/197045 ^@ NM_025114.3(CEP290):c.5013-7A>C http://identifiers.org/clinvar/197046 ^@ NM_032119.3(ADGRV1):c.8579T>C (p.Val2860Ala) http://identifiers.org/clinvar/197047 ^@ NM_032119.3(ADGRV1):c.8730+10dupT http://identifiers.org/clinvar/197048 ^@ NM_015384.4(NIPBL):c.6558A>G (p.Glu2186=) http://identifiers.org/clinvar/197049 ^@ NM_138694.3(PKHD1):c.6245C>T (p.Thr2082Ile) http://identifiers.org/clinvar/197050 ^@ NM_138694.3(PKHD1):c.6216T>G (p.Pro2072=) http://identifiers.org/clinvar/197051 ^@ NM_172364.4(CACNA2D4):c.3330C>T (p.Gly1110=) http://identifiers.org/clinvar/197052 ^@ NM_173630.3(RTTN):c.5143A>G (p.Asn1715Asp) http://identifiers.org/clinvar/197053 ^@ NM_182914.2(SYNE2):c.5575A>G (p.Lys1859Glu) http://identifiers.org/clinvar/197054 ^@ NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) http://identifiers.org/clinvar/197055 ^@ NM_000350.2(ABCA4):c.5549T>C (p.Leu1850Pro) http://identifiers.org/clinvar/197056 ^@ NM_000426.3(LAMA2):c.5601T>G (p.Ser1867=) http://identifiers.org/clinvar/197057 ^@ NM_000540.2(RYR1):c.6498C>T (p.Leu2166=) http://identifiers.org/clinvar/197058 ^@ NM_001129829.1(CACNA1C):c.4840C>T (p.Arg1614Cys) http://identifiers.org/clinvar/197059 ^@ NM_000719.6(CACNA1C):c.4760C>T (p.Ala1587Val) http://identifiers.org/clinvar/197060 ^@ NM_001130438.2(SPTAN1):c.4950A>G (p.Gln1650=) http://identifiers.org/clinvar/197061 ^@ NM_003494.3(DYSF):c.4200C>T (p.Pro1400=) http://identifiers.org/clinvar/197062 ^@ NM_001456.3(FLNA):c.6388G>T (p.Gly2130Cys) http://identifiers.org/clinvar/197063 ^@ NM_001458.4(FLNC):c.6441C>T (p.Ile2147=) http://identifiers.org/clinvar/197064 ^@ NM_001458.4(FLNC):c.6459C>T (p.Thr2153=) http://identifiers.org/clinvar/197065 ^@ NM_001844.4(COL2A1):c.2530C>T (p.Gln844Ter) http://identifiers.org/clinvar/197066 ^@ NM_001854.3(COL11A1):c.2921C>A (p.Pro974Gln) http://identifiers.org/clinvar/197067 ^@ NM_002222.5(ITPR1):c.5076C>T (p.Asn1692=) http://identifiers.org/clinvar/197068 ^@ NM_002474.2(MYH11):c.5529G>A (p.Ser1843=) http://identifiers.org/clinvar/197069 ^@ NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) http://identifiers.org/clinvar/197070 ^@ NM_003482.3(KMT2D):c.11957C>G (p.Ser3986Cys) http://identifiers.org/clinvar/197072 ^@ NM_003482.3(KMT2D):c.10889A>G (p.Lys3630Arg) http://identifiers.org/clinvar/197073 ^@ NM_003482.3(KMT2D):c.10850T>G (p.Leu3617Arg) http://identifiers.org/clinvar/197074 ^@ NM_003482.3(KMT2D):c.11939delA (p.Gln3980Argfs) http://identifiers.org/clinvar/197075 ^@ NM_003482.3(KMT2D):c.12481delG (p.Glu4161Serfs) http://identifiers.org/clinvar/197077 ^@ NM_004006.2(DMD):c.5548A>G (p.Lys1850Glu) http://identifiers.org/clinvar/197078 ^@ NM_004006.2(DMD):c.5481G>A (p.Leu1827=) http://identifiers.org/clinvar/197079 ^@ NM_004369.3(COL6A3):c.8465-7delT http://identifiers.org/clinvar/197080 ^@ NM_005529.6(HSPG2):c.4916C>T (p.Thr1639Met) http://identifiers.org/clinvar/197081 ^@ NM_005529.6(HSPG2):c.4928C>A (p.Pro1643His) http://identifiers.org/clinvar/197082 ^@ NM_006031.5(PCNT):c.8947C>T (p.Leu2983Phe) http://identifiers.org/clinvar/197083 ^@ NM_025074.6(FRAS1):c.5366+13T>G http://identifiers.org/clinvar/197084 ^@ NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) http://identifiers.org/clinvar/197085 ^@ NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) http://identifiers.org/clinvar/197086 ^@ NM_033071.3(SYNE1):c.5150C>A (p.Ala1717Asp) http://identifiers.org/clinvar/197087 ^@ NM_033071.3(SYNE1):c.5122G>T (p.Ala1708Ser) http://identifiers.org/clinvar/197088 ^@ NM_033071.3(SYNE1):c.5271A>G (p.Pro1757=) http://identifiers.org/clinvar/197089 ^@ NM_015384.4(NIPBL):c.6763T>A (p.Trp2255Arg) http://identifiers.org/clinvar/197090 ^@ NM_015384.4(NIPBL):c.6595G>C (p.Ala2199Pro) http://identifiers.org/clinvar/197091 ^@ NM_194248.2(OTOF):c.4820G>A (p.Arg1607Gln) http://identifiers.org/clinvar/197092 ^@ NM_000017.3(ACADS):c.423G>A (p.Thr141=) http://identifiers.org/clinvar/197093 ^@ NM_000020.2(ACVRL1):c.484C>T (p.Leu162Phe) http://identifiers.org/clinvar/197094 ^@ NM_000023.3(SGCA):c.320C>T (p.Ala107Val) http://identifiers.org/clinvar/197095 ^@ NM_000023.3(SGCA):c.313-10C>T http://identifiers.org/clinvar/197096 ^@ NM_000033.3(ABCD1):c.1288C>T (p.Gln430Ter) http://identifiers.org/clinvar/197097 ^@ NM_000036.2(AMPD1):c.433G>A (p.Val145Met) http://identifiers.org/clinvar/197098 ^@ NM_000050.4(ASS1):c.106-10T>G http://identifiers.org/clinvar/197099 ^@ NM_000059.3(BRCA2):c.425G>A (p.Ser142Asn) http://identifiers.org/clinvar/197101 ^@ NM_000070.2(CAPN3):c.584A>G (p.Asn195Ser) http://identifiers.org/clinvar/197102 ^@ NM_000070.2(CAPN3):c.533T>A (p.Ile178Lys) http://identifiers.org/clinvar/197103 ^@ NM_000070.2(CAPN3):c.525C>T (p.Asp175=) http://identifiers.org/clinvar/197104 ^@ NM_000098.2(CPT2):c.511C>T (p.Leu171=) http://identifiers.org/clinvar/197105 ^@ NM_000098.2(CPT2):c.587C>T (p.Pro196Leu) http://identifiers.org/clinvar/197107 ^@ NM_000098.2(CPT2):c.674G>A (p.Arg225His) http://identifiers.org/clinvar/197108 ^@ NM_000098.2(CPT2):c.1460A>C (p.Glu487Ala) http://identifiers.org/clinvar/197110 ^@ NM_000153.3(GALC):c.430delA (p.Ile144Leufs) http://identifiers.org/clinvar/197111 ^@ NM_000155.3(GALT):c.377+17C>T http://identifiers.org/clinvar/197112 ^@ NM_000163.4(GHR):c.195A>G (p.Ser65=) http://identifiers.org/clinvar/197113 ^@ NM_000169.2(GLA):c.620A>G (p.Tyr207Cys) http://identifiers.org/clinvar/197114 ^@ NM_000179.2(MSH6):c.742C>G (p.Arg248Gly) http://identifiers.org/clinvar/197115 ^@ NM_000179.2(MSH6):c.1223C>G (p.Pro408Arg) http://identifiers.org/clinvar/197116 ^@ NM_000180.3(GUCY2D):c.1371C>T (p.Cys457=) http://identifiers.org/clinvar/197117 ^@ NM_000180.3(GUCY2D):c.1290C>T (p.Ala430=) http://identifiers.org/clinvar/197118 ^@ NM_000180.3(GUCY2D):c.1093C>T (p.Arg365Trp) http://identifiers.org/clinvar/197120 ^@ NM_000181.3(GUSB):c.678C>T (p.Thr226=) http://identifiers.org/clinvar/197121 ^@ NM_000194.2(HPRT1):c.319-7delT http://identifiers.org/clinvar/197122 ^@ NM_000202.7(IDS):c.419-6dupT http://identifiers.org/clinvar/197123 ^@ NM_000214.2(JAG1):c.601C>T (p.Arg201Cys) http://identifiers.org/clinvar/197124 ^@ NM_000253.3(MTTP):c.285G>C (p.Gln95His) http://identifiers.org/clinvar/197125 ^@ NM_000277.1(PAH):c.357delC (p.Trp120Glyfs) http://identifiers.org/clinvar/197126 ^@ NM_000282.3(PCCA):c.232-1G>A http://identifiers.org/clinvar/197127 ^@ NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) http://identifiers.org/clinvar/197128 ^@ NM_000284.3(PDHA1):c.311T>C (p.Leu104Pro) http://identifiers.org/clinvar/197129 ^@ NM_001127701.1(SERPINA1):c.1061C>T (p.Ser354Phe) http://identifiers.org/clinvar/197130 ^@ NM_000303.2(PMM2):c.337C>T (p.Pro113Ser) http://identifiers.org/clinvar/197131 ^@ NM_000310.3(PPT1):c.433G>C (p.Gly145Arg) http://identifiers.org/clinvar/197132 ^@ NM_000316.2(PTH1R):c.109C>A (p.Gln37Lys) http://identifiers.org/clinvar/197133 ^@ NM_000326.4(RLBP1):c.29T>A (p.Met10Lys) http://identifiers.org/clinvar/197134 ^@ NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) http://identifiers.org/clinvar/197135 ^@ NM_000334.4(SCN4A):c.483-5C>G http://identifiers.org/clinvar/197136 ^@ NM_000371.3(TTR):c.384C>T (p.Ala128=) http://identifiers.org/clinvar/197137 ^@ NM_000391.3(TPP1):c.244C>T (p.Leu82=) http://identifiers.org/clinvar/197138 ^@ NM_001008216.1(GALE):c.237+20G>A http://identifiers.org/clinvar/197139 ^@ NM_000425.4(L1CAM):c.396C>T (p.Ala132=) http://identifiers.org/clinvar/197140 ^@ NM_000425.4(L1CAM):c.256G>A (p.Val86Met) http://identifiers.org/clinvar/197141 ^@ NM_000425.4(L1CAM):c.386G>A (p.Arg129Gln) http://identifiers.org/clinvar/197142 ^@ NM_000426.3(LAMA2):c.479A>T (p.Asp160Val) http://identifiers.org/clinvar/197143 ^@ NM_000426.3(LAMA2):c.524_534dupAGTGCCTAACG (p.Leu179Serfs) http://identifiers.org/clinvar/197144 ^@ NM_000443.3(ABCB4):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/197145 ^@ NM_000454.4(SOD1):c.341T>C (p.Ile114Thr) http://identifiers.org/clinvar/197146 ^@ NM_000458.3(HNF1B):c.974G>A (p.Ser325Asn) http://identifiers.org/clinvar/197147 ^@ NM_000463.2(UGT1A1):c.1122T>C (p.Gly374=) http://identifiers.org/clinvar/197148 ^@ NM_000466.2(PEX1):c.363G>A (p.Leu121=) http://identifiers.org/clinvar/197149 ^@ NM_000512.4(GALNS):c.421T>A (p.Trp141Arg) http://identifiers.org/clinvar/197150 ^@ NM_000515.4(GH1):c.387C>T (p.Tyr129=) http://identifiers.org/clinvar/197151 ^@ NM_000515.4(GH1):c.406G>A (p.Val136Ile) http://identifiers.org/clinvar/197152 ^@ NM_000515.4(GH1):c.370G>A (p.Ala124Thr) http://identifiers.org/clinvar/197153 ^@ NM_000528.3(MAN2B1):c.444G>A (p.Leu148=) http://identifiers.org/clinvar/197154 ^@ NM_000531.5(OTC):c.299-8delT http://identifiers.org/clinvar/197156 ^@ NM_000532.4(PCCB):c.418_429dupAAGATCTGCAAA (p.Lys143_Ile144insLysIleCysLys) http://identifiers.org/clinvar/197157 ^@ NM_001128834.2(PLP1):c.602G>T (p.Cys201Phe) http://identifiers.org/clinvar/197158 ^@ NM_000540.2(RYR1):c.271-7C>G http://identifiers.org/clinvar/197159 ^@ NM_000543.4(SMPD1):c.1340+7C>T http://identifiers.org/clinvar/197160 ^@ NM_000543.4(SMPD1):c.1280A>T (p.His427Leu) http://identifiers.org/clinvar/197161 ^@ NM_000550.2(TYRP1):c.785C>T (p.Thr262Met) http://identifiers.org/clinvar/197162 ^@ NM_000702.3(ATP1A2):c.194G>T (p.Arg65Leu) http://identifiers.org/clinvar/197163 ^@ NM_000702.3(ATP1A2):c.381+16C>T http://identifiers.org/clinvar/197164 ^@ NM_000747.2(CHRNB1):c.342G>A (p.Val114=) http://identifiers.org/clinvar/197165 ^@ NM_000751.2(CHRND):c.244G>A (p.Gly82Ser) http://identifiers.org/clinvar/197166 ^@ NM_000790.3(DDC):c.435+6G>T http://identifiers.org/clinvar/197167 ^@ NM_000806.5(GABRA1):c.85C>T (p.Pro29Ser) http://identifiers.org/clinvar/197168 ^@ NM_007325.4(GRIA3):c.646C>T (p.Arg216Ter) http://identifiers.org/clinvar/197169 ^@ NM_000883.3(IMPDH1):c.336C>T (p.Ala112=) http://identifiers.org/clinvar/197170 ^@ NM_001004334.3(GPR179):c.1220G>A (p.Arg407Gln) http://identifiers.org/clinvar/197171 ^@ NM_001010892.2(RSPH4A):c.1731A>G (p.Lys577=) http://identifiers.org/clinvar/197172 ^@ NM_001010892.2(RSPH4A):c.1708G>C (p.Glu570Gln) http://identifiers.org/clinvar/197173 ^@ NM_002921.3(RGR):c.397G>A (p.Val133Ile) http://identifiers.org/clinvar/197174 ^@ NM_001012720.1(RGR):c.459C>T (p.Tyr153=) http://identifiers.org/clinvar/197175 ^@ NM_001018113.2(FANCB):c.989T>C (p.Ile330Thr) http://identifiers.org/clinvar/197176 ^@ NM_001044385.2(TMEM237):c.136+8G>A http://identifiers.org/clinvar/197177 ^@ NM_001077182.2(FSCN2):c.1172C>T (p.Pro391Leu) http://identifiers.org/clinvar/197178 ^@ NM_001077182.2(FSCN2):c.1302C>T (p.Asp434=) http://identifiers.org/clinvar/197179 ^@ NM_024549.5(TCTN1):c.488C>A (p.Ser163Tyr) http://identifiers.org/clinvar/197181 ^@ NM_001277313.1(FMN1):c.2826T>G (p.Pro942=) http://identifiers.org/clinvar/197182 ^@ NM_001277313.1(FMN1):c.2717C>T (p.Pro906Leu) http://identifiers.org/clinvar/197183 ^@ NM_001127255.1(NLRP7):c.810C>T (p.Cys270=) http://identifiers.org/clinvar/197184 ^@ NM_001128227.2(GNE):c.829C>T (p.Arg277Trp) http://identifiers.org/clinvar/197185 ^@ NM_001135659.2(NRXN1):c.881A>G (p.Asn294Ser) http://identifiers.org/clinvar/197186 ^@ NM_001142800.1(EYS):c.490C>T (p.Arg164Ter) http://identifiers.org/clinvar/197187 ^@ NM_001165963.1(SCN1A):c.602+1G>A http://identifiers.org/clinvar/197188 ^@ NM_001184.3(ATR):c.305G>T (p.Trp102Leu) http://identifiers.org/clinvar/197189 ^@ NM_001199107.1(TBC1D24):c.1125C>T (p.His375=) http://identifiers.org/clinvar/197190 ^@ NM_001202.5(BMP4):c.455T>C (p.Val152Ala) http://identifiers.org/clinvar/197191 ^@ NM_001235.3(SERPINH1):c.744C>T (p.Asp248=) http://identifiers.org/clinvar/197192 ^@ NM_001242957.2(MAK):c.174T>G (p.Asn58Lys) http://identifiers.org/clinvar/197193 ^@ NM_001360.2(DHCR7):c.223A>T (p.Ile75Phe) http://identifiers.org/clinvar/197194 ^@ NM_001369.2(DNAH5):c.297A>T (p.Gly99=) http://identifiers.org/clinvar/197195 ^@ NM_001376.4(DYNC1H1):c.752G>A (p.Arg251His) http://identifiers.org/clinvar/197196 ^@ NM_001456.3(FLNA):c.623-7G>A http://identifiers.org/clinvar/197197 ^@ NM_001558.3(IL10RA):c.475A>G (p.Ser159Gly) http://identifiers.org/clinvar/197198 ^@ NM_001614.3(ACTG1):c.542C>T (p.Ala181Val) http://identifiers.org/clinvar/197199 ^@ NM_001701.3(BAAT):c.951G>A (p.Gln317=) http://identifiers.org/clinvar/197200 ^@ NM_001701.3(BAAT):c.1127C>T (p.Thr376Met) http://identifiers.org/clinvar/197202 ^@ NM_001849.3(COL6A2):c.730G>A (p.Gly244Arg) http://identifiers.org/clinvar/197203 ^@ NM_001918.3(DBT):c.433+1G>T http://identifiers.org/clinvar/197204 ^@ NM_001244710.1(GFPT1):c.229C>G (p.Gln77Glu) http://identifiers.org/clinvar/197205 ^@ NM_002335.3(LRP5):c.713C>T (p.Thr238Met) http://identifiers.org/clinvar/197206 ^@ NM_002335.3(LRP5):c.687-8G>A http://identifiers.org/clinvar/197207 ^@ NM_002397.4(MEF2C):c.363C>T (p.Asn121=) http://identifiers.org/clinvar/197208 ^@ NM_002768.4(CHMP1A):c.198G>A (p.Ala66=) http://identifiers.org/clinvar/197210 ^@ NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) http://identifiers.org/clinvar/197211 ^@ NM_001135599.3(TGFB2):c.728-4C>T http://identifiers.org/clinvar/197212 ^@ NM_003322.5(TULP1):c.327C>G (p.Ala109=) http://identifiers.org/clinvar/197213 ^@ NM_003384.2(VRK1):c.266G>A (p.Arg89Gln) http://identifiers.org/clinvar/197214 ^@ NM_003392.4(WNT5A):c.588C>T (p.Phe196=) http://identifiers.org/clinvar/197215 ^@ NM_003494.3(DYSF):c.243G>A (p.Leu81=) http://identifiers.org/clinvar/197216 ^@ NM_003494.3(DYSF):c.276C>T (p.Leu92=) http://identifiers.org/clinvar/197217 ^@ NM_003494.3(DYSF):c.265C>T (p.Arg89Ter) http://identifiers.org/clinvar/197218 ^@ NM_003722.4(TP63):c.435G>C (p.Ala145=) http://identifiers.org/clinvar/197219 ^@ NM_003742.2(ABCB11):c.127G>A (p.Val43Ile) http://identifiers.org/clinvar/197220 ^@ NM_003839.3(TNFRSF11A):c.321G>A (p.Thr107=) http://identifiers.org/clinvar/197221 ^@ NM_003839.3(TNFRSF11A):c.327C>T (p.Pro109=) http://identifiers.org/clinvar/197222 ^@ NM_003865.2(HESX1):c.525G>A (p.Ala175=) http://identifiers.org/clinvar/197223 ^@ NM_003865.2(HESX1):c.511_512delCA (p.Gln171Valfs) http://identifiers.org/clinvar/197224 ^@ NM_003896.3(ST3GAL5):c.648C>T (p.Phe216=) http://identifiers.org/clinvar/197225 ^@ NM_003919.2(SGCE):c.391-3T>C http://identifiers.org/clinvar/197226 ^@ NM_003995.3(NPR2):c.988-7C>A http://identifiers.org/clinvar/197227 ^@ NM_004086.2(COCH):c.239+5G>A http://identifiers.org/clinvar/197228 ^@ NM_004187.3(KDM5C):c.486T>A (p.Tyr162Ter) http://identifiers.org/clinvar/197229 ^@ NM_004239.4(TRIP11):c.499A>G (p.Ile167Val) http://identifiers.org/clinvar/197230 ^@ NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) http://identifiers.org/clinvar/197231 ^@ NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) http://identifiers.org/clinvar/197232 ^@ NM_004369.3(COL6A3):c.1147G>A (p.Ala383Thr) http://identifiers.org/clinvar/197233 ^@ NM_004369.3(COL6A3):c.1150G>A (p.Ala384Thr) http://identifiers.org/clinvar/197234 ^@ NM_004369.3(COL6A3):c.1146G>A (p.Gln382=) http://identifiers.org/clinvar/197235 ^@ NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) http://identifiers.org/clinvar/197236 ^@ NM_004463.2(FGD1):c.771C>T (p.Pro257=) http://identifiers.org/clinvar/197237 ^@ NM_004482.3(GALNT3):c.733A>G (p.Ile245Val) http://identifiers.org/clinvar/197238 ^@ NM_004625.3(WNT7A):c.861G>A (p.Val287=) http://identifiers.org/clinvar/197239 ^@ NM_004700.3(KCNQ4):c.708+9T>A http://identifiers.org/clinvar/197240 ^@ NM_004737.5(LARGE1):c.179G>A (p.Arg60Gln) http://identifiers.org/clinvar/197241 ^@ NM_004737.5(LARGE1):c.408+8G>A http://identifiers.org/clinvar/197242 ^@ NM_004737.5(LARGE1):c.391G>A (p.Val131Ile) http://identifiers.org/clinvar/197243 ^@ NM_004985.4(KRAS):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/197244 ^@ NM_001110792.1(MECP2):c.1200A>C (p.Pro400=) http://identifiers.org/clinvar/197245 ^@ NM_001110792.1(MECP2):c.1202dupC (p.Pro402Serfs) http://identifiers.org/clinvar/197246 ^@ NM_001110792.1(MECP2):c.563C>A (p.Pro188His) http://identifiers.org/clinvar/197247 ^@ NM_005045.3(RELN):c.544+6C>A http://identifiers.org/clinvar/197248 ^@ NM_005055.4(RAPSN):c.737C>T (p.Ala246Val) http://identifiers.org/clinvar/197249 ^@ NM_005055.4(RAPSN):c.691-11delC http://identifiers.org/clinvar/197250 ^@ NM_001077482.2(NR1I3):c.362A>C (p.His121Pro) http://identifiers.org/clinvar/197251 ^@ NM_005272.3(GNAT2):c.370G>A (p.Val124Met) http://identifiers.org/clinvar/197252 ^@ NM_005327.4(HADH):c.486A>G (p.Arg162=) http://identifiers.org/clinvar/197253 ^@ NM_005477.2(HCN4):c.1444G>A (p.Gly482Arg) http://identifiers.org/clinvar/197254 ^@ NM_005572.3(LMNA):c.662G>C (p.Arg221Pro) http://identifiers.org/clinvar/197255 ^@ NM_005572.3(LMNA):c.643C>T (p.Leu215=) http://identifiers.org/clinvar/197256 ^@ NM_005592.3(MUSK):c.398T>C (p.Ile133Thr) http://identifiers.org/clinvar/197257 ^@ NM_005592.3(MUSK):c.486+7G>C http://identifiers.org/clinvar/197258 ^@ NM_005592.3(MUSK):c.486G>C (p.Arg162Ser) http://identifiers.org/clinvar/197259 ^@ NM_005682.6(ADGRG1):c.323G>A (p.Arg108His) http://identifiers.org/clinvar/197260 ^@ NM_005682.6(ADGRG1):c.205G>T (p.Ala69Ser) http://identifiers.org/clinvar/197261 ^@ NM_005710.2(PQBP1):c.563C>T (p.Pro188Leu) http://identifiers.org/clinvar/197262 ^@ NM_005881.3(BCKDK):c.373G>A (p.Val125Met) http://identifiers.org/clinvar/197263 ^@ NM_006019.3(TCIRG1):c.197-5C>T http://identifiers.org/clinvar/197264 ^@ NM_006019.3(TCIRG1):c.417+11A>G http://identifiers.org/clinvar/197265 ^@ NM_006019.3(TCIRG1):c.384C>T (p.His128=) http://identifiers.org/clinvar/197266 ^@ NM_006019.3(TCIRG1):c.247A>G (p.Lys83Glu) http://identifiers.org/clinvar/197267 ^@ NM_006086.3(TUBB3):c.921C>T (p.His307=) http://identifiers.org/clinvar/197268 ^@ NM_006204.3(PDE6C):c.742A>G (p.Asn248Asp) http://identifiers.org/clinvar/197269 ^@ NM_006269.1(RP1):c.4467C>T (p.Ala1489=) http://identifiers.org/clinvar/197270 ^@ NM_006269.1(RP1):c.6196G>A (p.Asp2066Asn) http://identifiers.org/clinvar/197271 ^@ NM_006269.1(RP1):c.4555delA (p.Arg1519Glufs) http://identifiers.org/clinvar/197272 ^@ NM_006269.1(RP1):c.2700dupA (p.Pro901Thrfs) http://identifiers.org/clinvar/197273 ^@ NM_006269.1(RP1):c.4299A>G (p.Ala1433=) http://identifiers.org/clinvar/197274 ^@ NM_006269.1(RP1):c.3532G>T (p.Asp1178Tyr) http://identifiers.org/clinvar/197275 ^@ NM_006269.1(RP1):c.3826C>T (p.Pro1276Ser) http://identifiers.org/clinvar/197276 ^@ NM_006302.2(MOGS):c.2434C>T (p.Arg812Cys) http://identifiers.org/clinvar/197277 ^@ NM_001042537.1(SLC9A6):c.610T>G (p.Phe204Val) http://identifiers.org/clinvar/197278 ^@ NM_006415.3(SPTLC1):c.261C>T (p.Gly87=) http://identifiers.org/clinvar/197279 ^@ NM_006486.2(FBLN1):c.353C>T (p.Ala118Val) http://identifiers.org/clinvar/197280 ^@ NM_006493.2(CLN5):c.922A>T (p.Ile308Leu) http://identifiers.org/clinvar/197281 ^@ NM_006516.2(SLC2A1):c.458G>A (p.Arg153His) http://identifiers.org/clinvar/197282 ^@ NM_006516.2(SLC2A1):c.498C>T (p.Val166=) http://identifiers.org/clinvar/197283 ^@ NM_006662.2(SRCAP):c.62C>T (p.Ser21Leu) http://identifiers.org/clinvar/197284 ^@ NM_006726.4(LRBA):c.549+6A>C http://identifiers.org/clinvar/197285 ^@ NM_006922.3(SCN3A):c.295A>G (p.Ile99Val) http://identifiers.org/clinvar/197286 ^@ NM_007214.4(SEC63):c.340-12_340-11delGT http://identifiers.org/clinvar/197287 ^@ NM_007254.3(PNKP):c.290A>G (p.Asn97Ser) http://identifiers.org/clinvar/197288 ^@ NM_007255.2(B4GALT7):c.687C>T (p.Asp229=) http://identifiers.org/clinvar/197289 ^@ NM_007317.2(KIF22):c.549+8C>A http://identifiers.org/clinvar/197290 ^@ NM_177439.2(FTSJ1):c.270G>T (p.Gly90=) http://identifiers.org/clinvar/197291 ^@ NM_012463.3(ATP6V0A2):c.304C>T (p.Gln102Ter) http://identifiers.org/clinvar/197292 ^@ NM_014208.3(DSPP):c.727G>A (p.Asp243Asn) http://identifiers.org/clinvar/197293 ^@ NM_014208.3(DSPP):c.1063G>A (p.Val355Ile) http://identifiers.org/clinvar/197295 ^@ NM_014425.4(INVS):c.367C>T (p.Arg123Trp) http://identifiers.org/clinvar/197297 ^@ NM_014780.4(CUL7):c.898_919del22 (p.Met300Trpfs) http://identifiers.org/clinvar/197298 ^@ NM_014780.4(CUL7):c.935G>A (p.Arg312His) http://identifiers.org/clinvar/197299 ^@ NM_014780.4(CUL7):c.1030G>A (p.Ala344Thr) http://identifiers.org/clinvar/197300 ^@ NM_014780.4(CUL7):c.1005G>A (p.Leu335=) http://identifiers.org/clinvar/197301 ^@ NM_014846.3(WASHC5):c.333-19A>G http://identifiers.org/clinvar/197302 ^@ NM_014846.3(WASHC5):c.417+11A>G http://identifiers.org/clinvar/197303 ^@ NM_001127897.3(RPGRIP1L):c.482G>A (p.Arg161His) http://identifiers.org/clinvar/197304 ^@ NM_001127897.3(RPGRIP1L):c.255A>G (p.Leu85=) http://identifiers.org/clinvar/197305 ^@ NM_015311.2(OBSL1):c.1599G>A (p.Thr533=) http://identifiers.org/clinvar/197306 ^@ NM_015506.2(MMACHC):c.848G>T (p.Ter283Leu) http://identifiers.org/clinvar/197307 ^@ NM_016156.5(MTMR2):c.356G>A (p.Arg119Gln) http://identifiers.org/clinvar/197308 ^@ NM_016180.4(SLC45A2):c.1032G>T (p.Gln344His) http://identifiers.org/clinvar/197309 ^@ NM_016180.4(SLC45A2):c.987A>G (p.Thr329=) http://identifiers.org/clinvar/197310 ^@ NM_017617.4(NOTCH1):c.711C>T (p.Gly237=) http://identifiers.org/clinvar/197311 ^@ NM_001123383.1(BCOR):c.422C>T (p.Pro141Leu) http://identifiers.org/clinvar/197312 ^@ NM_001123383.1(BCOR):c.837C>T (p.Leu279=) http://identifiers.org/clinvar/197313 ^@ NM_001123383.1(BCOR):c.2910G>A (p.Ala970=) http://identifiers.org/clinvar/197314 ^@ NM_017837.3(PIGV):c.1277C>T (p.Pro426Leu) http://identifiers.org/clinvar/197315 ^@ NM_017882.2(CLN6):c.316C>T (p.Arg106Cys) http://identifiers.org/clinvar/197316 ^@ NM_017929.5(PEX26):c.643G>A (p.Glu215Lys) http://identifiers.org/clinvar/197317 ^@ NM_017950.3(CCDC40):c.630C>T (p.Ser210=) http://identifiers.org/clinvar/197318 ^@ NM_001145294.1(NGLY1):c.367-9delT http://identifiers.org/clinvar/197319 ^@ NM_018451.4(CENPJ):c.646T>C (p.Cys216Arg) http://identifiers.org/clinvar/197320 ^@ NM_018977.3(NLGN3):c.523C>T (p.Arg175Trp) http://identifiers.org/clinvar/197321 ^@ NM_020361.4(CPA6):c.383G>A (p.Arg128Gln) http://identifiers.org/clinvar/197322 ^@ NM_020433.4(JPH2):c.1380G>A (p.Ala460=) http://identifiers.org/clinvar/197323 ^@ NM_020436.4(SALL4):c.2977G>A (p.Gly993Arg) http://identifiers.org/clinvar/197325 ^@ NM_020717.3(SHROOM4):c.2192A>G (p.Glu731Gly) http://identifiers.org/clinvar/197326 ^@ NM_020717.3(SHROOM4):c.770G>A (p.Arg257His) http://identifiers.org/clinvar/197327 ^@ NM_020717.3(SHROOM4):c.839G>A (p.Arg280Gln) http://identifiers.org/clinvar/197328 ^@ NM_020822.2(KCNT1):c.408C>T (p.Leu136=) http://identifiers.org/clinvar/197329 ^@ NM_021120.3(DLG3):c.570C>T (p.Asp190=) http://identifiers.org/clinvar/197330 ^@ NM_001291415.1(KDM6A):c.384+10C>T http://identifiers.org/clinvar/197331 ^@ NM_021734.4(SLC25A19):c.135T>A (p.Leu45=) http://identifiers.org/clinvar/197332 ^@ NM_022124.5(CDH23):c.146-2A>G http://identifiers.org/clinvar/197333 ^@ NM_022162.2(NOD2):c.2107C>T (p.Arg703Cys) http://identifiers.org/clinvar/197334 ^@ NM_001146289.1(P3H1):c.852G>A (p.Thr284=) http://identifiers.org/clinvar/197335 ^@ NM_001142617.1(STRA6):c.217C>A (p.Arg73Ser) http://identifiers.org/clinvar/197336 ^@ NM_022436.2(ABCG5):c.431T>C (p.Val144Ala) http://identifiers.org/clinvar/197337 ^@ NM_023073.3(C5orf42):c.221C>T (p.Ala74Val) http://identifiers.org/clinvar/197338 ^@ NM_024075.4(TSEN34):c.642C>T (p.Arg214=) http://identifiers.org/clinvar/197339 ^@ NM_024301.4(FKRP):c.613C>T (p.Arg205Cys) http://identifiers.org/clinvar/197340 ^@ NM_024301.4(FKRP):c.636G>A (p.Ala212=) http://identifiers.org/clinvar/197341 ^@ NM_024301.4(FKRP):c.1115T>G (p.Val372Gly) http://identifiers.org/clinvar/197342 ^@ NM_024301.4(FKRP):c.586G>A (p.Gly196Arg) http://identifiers.org/clinvar/197343 ^@ NM_024301.4(FKRP):c.729G>A (p.Ala243=) http://identifiers.org/clinvar/197344 ^@ NM_024301.4(FKRP):c.1376C>T (p.Ala459Val) http://identifiers.org/clinvar/197345 ^@ NM_024301.4(FKRP):c.647G>A (p.Arg216Gln) http://identifiers.org/clinvar/197346 ^@ NM_024301.4(FKRP):c.946C>T (p.Pro316Ser) http://identifiers.org/clinvar/197347 ^@ NM_024301.4(FKRP):c.947C>G (p.Pro316Arg) http://identifiers.org/clinvar/197348 ^@ NM_024301.4(FKRP):c.964C>G (p.Leu322Val) http://identifiers.org/clinvar/197349 ^@ NM_024301.4(FKRP):c.954C>T (p.Cys318=) http://identifiers.org/clinvar/197350 ^@ NM_024301.4(FKRP):c.1179A>G (p.Val393=) http://identifiers.org/clinvar/197351 ^@ NM_024592.4(SRD5A3):c.603G>A (p.Trp201Ter) http://identifiers.org/clinvar/197352 ^@ NM_024675.3(PALB2):c.301G>C (p.Asp101His) http://identifiers.org/clinvar/197353 ^@ NM_024757.4(EHMT1):c.737G>A (p.Arg246Gln) http://identifiers.org/clinvar/197354 ^@ NM_024809.4(TCTN2):c.429T>C (p.Ile143=) http://identifiers.org/clinvar/197355 ^@ NM_025074.6(FRAS1):c.237T>C (p.Ala79=) http://identifiers.org/clinvar/197356 ^@ NM_030777.3(SLC2A10):c.1464C>T (p.Leu488=) http://identifiers.org/clinvar/197357 ^@ NM_015645.4(C1QTNF5):c.-2282A>G http://identifiers.org/clinvar/197358 ^@ NM_031433.3(MFRP):c.315G>A (p.Leu105=) http://identifiers.org/clinvar/197359 ^@ NM_178443.2(FERMT3):c.405C>T (p.His135=) http://identifiers.org/clinvar/197360 ^@ NM_031885.3(BBS2):c.525A>G (p.Gly175=) http://identifiers.org/clinvar/197361 ^@ NM_032273.3(TMEM126A):c.314G>A (p.Arg105Gln) http://identifiers.org/clinvar/197362 ^@ NM_032609.2(COX4I2):c.253C>T (p.Arg85Trp) http://identifiers.org/clinvar/197363 ^@ NM_001122955.3(BSCL2):c.487-9C>T http://identifiers.org/clinvar/197364 ^@ NM_033028.4(BBS4):c.208A>G (p.Ile70Val) http://identifiers.org/clinvar/197365 ^@ NM_057176.2(BSND):c.744G>A (p.Thr248=) http://identifiers.org/clinvar/197366 ^@ NM_080680.2(COL11A2):c.480T>G (p.Ser160=) http://identifiers.org/clinvar/197367 ^@ NM_138694.3(PKHD1):c.158A>G (p.Asn53Ser) http://identifiers.org/clinvar/197368 ^@ NM_001159772.1(CANT1):c.1026C>T (p.His342=) http://identifiers.org/clinvar/197369 ^@ NM_001159772.1(CANT1):c.836-9G>A http://identifiers.org/clinvar/197370 ^@ NM_001159772.1(CANT1):c.862T>C (p.Trp288Arg) http://identifiers.org/clinvar/197372 ^@ NM_139058.2(ARX):c.1269C>T (p.His423=) http://identifiers.org/clinvar/197373 ^@ NM_139058.2(ARX):c.1404G>C (p.Ala468=) http://identifiers.org/clinvar/197374 ^@ NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) http://identifiers.org/clinvar/197375 ^@ NM_144966.5(FREM1):c.261C>T (p.Asn87=) http://identifiers.org/clinvar/197377 ^@ NM_145014.2(HYLS1):c.620G>A (p.Arg207Gln) http://identifiers.org/clinvar/197378 ^@ NM_145200.3(CABP4):c.579G>A (p.Leu193=) http://identifiers.org/clinvar/197379 ^@ NM_145239.2(PRRT2):c.1013T>C (p.Val338Ala) http://identifiers.org/clinvar/197380 ^@ NM_145239.2(PRRT2):c.1020G>A (p.Lys340=) http://identifiers.org/clinvar/197381 ^@ NM_153033.4(KCTD7):c.793G>A (p.Gly265Arg) http://identifiers.org/clinvar/197382 ^@ NM_153717.2(EVC):c.473C>G (p.Ser158Cys) http://identifiers.org/clinvar/197383 ^@ NM_153717.2(EVC):c.569G>T (p.Arg190Leu) http://identifiers.org/clinvar/197384 ^@ NM_153717.2(EVC):c.469C>G (p.Pro157Ala) http://identifiers.org/clinvar/197385 ^@ NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) http://identifiers.org/clinvar/197386 ^@ NM_153818.1(PEX10):c.671G>A (p.Arg224His) http://identifiers.org/clinvar/197387 ^@ NM_176824.2(BBS7):c.223A>G (p.Ile75Val) http://identifiers.org/clinvar/197388 ^@ NM_004315.5(ASAH1):c.351+7G>A http://identifiers.org/clinvar/197389 ^@ NM_004315.5(ASAH1):c.325A>G (p.Ile109Val) http://identifiers.org/clinvar/197390 ^@ NM_182914.2(SYNE2):c.142C>T (p.His48Tyr) http://identifiers.org/clinvar/197391 ^@ NM_194318.3(B3GLCT):c.161-8dupT http://identifiers.org/clinvar/197392 ^@ NM_194318.3(B3GLCT):c.190A>G (p.Ser64Gly) http://identifiers.org/clinvar/197393 ^@ NC_000007.13:g.33195329_33195330ins~340 http://identifiers.org/clinvar/197394 ^@ NM_198506.4(LRIT3):c.1187_1189delCTT (p.Ser396del) http://identifiers.org/clinvar/197395 ^@ NM_198506.4(LRIT3):c.1182A>G (p.Thr394=) http://identifiers.org/clinvar/197396 ^@ NM_198506.4(LRIT3):c.1621A>G (p.Ile541Val) http://identifiers.org/clinvar/197397 ^@ NM_198506.4(LRIT3):c.1006A>T (p.Met336Leu) http://identifiers.org/clinvar/197398 ^@ NM_198506.4(LRIT3):c.1509G>A (p.Thr503=) http://identifiers.org/clinvar/197399 ^@ NM_198525.2(KIF7):c.705A>C (p.Leu235=) http://identifiers.org/clinvar/197400 ^@ NM_198859.3(PRICKLE2):c.330C>T (p.Arg110=) http://identifiers.org/clinvar/197401 ^@ NM_207346.2(TSEN54):c.325C>G (p.Arg109Gly) http://identifiers.org/clinvar/197402 ^@ NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) http://identifiers.org/clinvar/197403 ^@ NM_213599.2(ANO5):c.155A>G (p.Asn52Ser) http://identifiers.org/clinvar/197404 ^@ NM_000093.4(COL5A1):c.3204+3G>A http://identifiers.org/clinvar/197405 ^@ NM_000260.3(MYO7A):c.5494C>T (p.Arg1832Trp) http://identifiers.org/clinvar/197406 ^@ NM_000719.6(CACNA1C):c.4942G>A (p.Ala1648Thr) http://identifiers.org/clinvar/197407 ^@ NM_001110556.1(FLNA):c.6691G>A (p.Gly2231Arg) http://identifiers.org/clinvar/197408 ^@ NM_001456.3(FLNA):c.6492G>A (p.Gln2164=) http://identifiers.org/clinvar/197409 ^@ NM_001457.3(FLNB):c.6683T>C (p.Ile2228Thr) http://identifiers.org/clinvar/197411 ^@ NM_003482.3(KMT2D):c.13588G>A (p.Asp4530Asn) http://identifiers.org/clinvar/197412 ^@ NM_004006.2(DMD):c.5697delA (p.Lys1899Asnfs) http://identifiers.org/clinvar/197413 ^@ NM_004006.2(DMD):c.5693A>C (p.Lys1898Thr) http://identifiers.org/clinvar/197414 ^@ NM_004006.2(DMD):c.5723A>T (p.Asp1908Val) http://identifiers.org/clinvar/197415 ^@ NM_004369.3(COL6A3):c.8745G>A (p.Ala2915=) http://identifiers.org/clinvar/197416 ^@ NM_004369.3(COL6A3):c.8819C>T (p.Thr2940Met) http://identifiers.org/clinvar/197417 ^@ NM_004369.3(COL6A3):c.8724C>T (p.Ala2908=) http://identifiers.org/clinvar/197418 ^@ NM_005045.3(RELN):c.6072+4C>G http://identifiers.org/clinvar/197419 ^@ NM_014014.4(SNRNP200):c.5664C>T (p.His1888=) http://identifiers.org/clinvar/197420 ^@ NM_017534.5(MYH2):c.5780G>A (p.Arg1927Gln) http://identifiers.org/clinvar/197421 ^@ NM_017890.4(VPS13B):c.7162A>C (p.Lys2388Gln) http://identifiers.org/clinvar/197422 ^@ NM_022124.5(CDH23):c.5131G>A (p.Val1711Ile) http://identifiers.org/clinvar/197423 ^@ NM_138694.3(PKHD1):c.6557G>C (p.Arg2186Thr) http://identifiers.org/clinvar/197424 ^@ NM_206933.2(USH2A):c.7527G>T (p.Arg2509=) http://identifiers.org/clinvar/197425 ^@ NM_000088.3(COL1A1):c.3025C>T (p.Pro1009Ser) http://identifiers.org/clinvar/197426 ^@ NM_000719.6(CACNA1C):c.5091+8G>A http://identifiers.org/clinvar/197427 ^@ NM_001127493.1(ANK2):c.4728C>T (p.Thr1576=) http://identifiers.org/clinvar/197428 ^@ NM_001110556.1(FLNA):c.6871G>A (p.Gly2291Ser) http://identifiers.org/clinvar/197429 ^@ NM_001457.3(FLNB):c.6843C>T (p.Ile2281=) http://identifiers.org/clinvar/197430 ^@ NM_001844.4(COL2A1):c.2709C>T (p.Gly903=) http://identifiers.org/clinvar/197431 ^@ NM_001844.4(COL2A1):c.2680-9C>T http://identifiers.org/clinvar/197432 ^@ NM_003482.3(KMT2D):c.13780dupG (p.Ala4594Glyfs) http://identifiers.org/clinvar/197433 ^@ NM_003494.3(DYSF):c.4434G>A (p.Trp1478Ter) http://identifiers.org/clinvar/197434 ^@ NM_004006.2(DMD):c.5868G>A (p.Trp1956Ter) http://identifiers.org/clinvar/197435 ^@ NM_004369.3(COL6A3):c.9061G>C (p.Asp3021His) http://identifiers.org/clinvar/197436 ^@ NM_004369.3(COL6A3):c.9012C>T (p.Ser3004=) http://identifiers.org/clinvar/197437 ^@ NM_004369.3(COL6A3):c.8970G>A (p.Lys2990=) http://identifiers.org/clinvar/197438 ^@ NM_005045.3(RELN):c.6163C>T (p.Leu2055=) http://identifiers.org/clinvar/197439 ^@ NM_005045.3(RELN):c.6141C>T (p.Phe2047=) http://identifiers.org/clinvar/197440 ^@ NM_005045.3(RELN):c.6278A>C (p.His2093Pro) http://identifiers.org/clinvar/197441 ^@ NM_006031.5(PCNT):c.9146T>C (p.Leu3049Pro) http://identifiers.org/clinvar/197442 ^@ NM_006726.4(LRBA):c.6355G>A (p.Asp2119Asn) http://identifiers.org/clinvar/197443 ^@ NM_014014.4(SNRNP200):c.5766C>T (p.Leu1922=) http://identifiers.org/clinvar/197444 ^@ NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=) http://identifiers.org/clinvar/197445 ^@ NM_033071.3(SYNE1):c.6020G>A (p.Arg2007Lys) http://identifiers.org/clinvar/197446 ^@ NM_133433.3(NIPBL):c.6955-9del http://identifiers.org/clinvar/197447 ^@ NM_206933.2(USH2A):c.7595-3C>G http://identifiers.org/clinvar/197448 ^@ NM_206933.2(USH2A):c.8016G>A (p.Leu2672=) http://identifiers.org/clinvar/197449 ^@ NM_000088.3(COL1A1):c.3046-5_3046-4insCTCT http://identifiers.org/clinvar/197450 ^@ NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) http://identifiers.org/clinvar/197451 ^@ NM_000089.3(COL1A2):c.2693G>T (p.Gly898Val) http://identifiers.org/clinvar/197452 ^@ NM_000393.4(COL5A2):c.2787G>A (p.Ala929=) http://identifiers.org/clinvar/197453 ^@ NM_000426.3(LAMA2):c.6002G>A (p.Arg2001Lys) http://identifiers.org/clinvar/197454 ^@ NM_000719.6(CACNA1C):c.5202C>T (p.Gly1734=) http://identifiers.org/clinvar/197455 ^@ NM_000719.6(CACNA1C):c.5307C>T (p.Asn1769=) http://identifiers.org/clinvar/197456 ^@ NM_001142800.1(EYS):c.8080A>G (p.Ile2694Val) http://identifiers.org/clinvar/197457 ^@ NM_001142800.1(EYS):c.8138A>G (p.His2713Arg) http://identifiers.org/clinvar/197458 ^@ NM_001376.4(DYNC1H1):c.8478A>G (p.Ala2826=) http://identifiers.org/clinvar/197459 ^@ NM_001110556.1(FLNA):c.6997C>T (p.Arg2333Cys) http://identifiers.org/clinvar/197460 ^@ NM_001456.3(FLNA):c.6989C>G (p.Ser2330Cys) http://identifiers.org/clinvar/197461 ^@ NM_001458.4(FLNC):c.7091G>A (p.Arg2364His) http://identifiers.org/clinvar/197462 ^@ NM_001458.4(FLNC):c.6998-5C>T http://identifiers.org/clinvar/197463 ^@ NM_003494.3(DYSF):c.4512C>G (p.Val1504=) http://identifiers.org/clinvar/197464 ^@ NM_004369.3(COL6A3):c.9248C>A (p.Pro3083His) http://identifiers.org/clinvar/197465 ^@ NM_005045.3(RELN):c.6519C>T (p.Phe2173=) http://identifiers.org/clinvar/197466 ^@ NM_005045.3(RELN):c.6520G>A (p.Glu2174Lys) http://identifiers.org/clinvar/197467 ^@ NM_005120.2(MED12):c.6183_6188dupACAGCA (p.Gln2076_Tyr2077insGlnGln) http://identifiers.org/clinvar/197470 ^@ NM_006445.3(PRPF8):c.6792G>A (p.Ser2264=) http://identifiers.org/clinvar/197471 ^@ NM_014639.3(TTC37):c.4497-5dupT http://identifiers.org/clinvar/197472 ^@ NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) http://identifiers.org/clinvar/197473 ^@ NM_032119.3(ADGRV1):c.9083A>G (p.Asn3028Ser) http://identifiers.org/clinvar/197474 ^@ NM_080680.2(COL11A2):c.3111G>T (p.Pro1037=) http://identifiers.org/clinvar/197475 ^@ NM_138694.3(PKHD1):c.6854G>A (p.Gly2285Glu) http://identifiers.org/clinvar/197476 ^@ NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) http://identifiers.org/clinvar/197477 ^@ NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) http://identifiers.org/clinvar/197478 ^@ NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) http://identifiers.org/clinvar/197480 ^@ NM_001148.4(ANK2):c.11538C>T (p.Leu3846=) http://identifiers.org/clinvar/197481 ^@ NM_001277115.1(DNAH11):c.7039A>G (p.Thr2347Ala) http://identifiers.org/clinvar/197482 ^@ NM_004006.2(DMD):c.6238delC (p.Gln2080Serfs) http://identifiers.org/clinvar/197483 ^@ NM_004369.3(COL6A3):c.9487G>A (p.Ala3163Thr) http://identifiers.org/clinvar/197484 ^@ NM_004369.3(COL6A3):c.9351C>T (p.Asp3117=) http://identifiers.org/clinvar/197485 ^@ NM_005045.3(RELN):c.6553A>T (p.Met2185Leu) http://identifiers.org/clinvar/197486 ^@ NM_005120.2(MED12):c.6285A>G (p.Gln2095=) http://identifiers.org/clinvar/197488 ^@ NM_005120.2(MED12):c.6303_6308dupGCAGCA (p.Gln2115_His2116insGlnGln) http://identifiers.org/clinvar/197489 ^@ NM_005529.6(HSPG2):c.5335C>T (p.Arg1779Trp) http://identifiers.org/clinvar/197490 ^@ NM_006031.5(PCNT):c.9594G>A (p.Thr3198=) http://identifiers.org/clinvar/197491 ^@ NM_016239.3(MYO15A):c.7984C>G (p.Leu2662Val) http://identifiers.org/clinvar/197492 ^@ NM_023073.3(C5orf42):c.8300-1G>C http://identifiers.org/clinvar/197493 ^@ NM_032119.3(ADGRV1):c.9366A>G (p.Thr3122=) http://identifiers.org/clinvar/197494 ^@ NM_033071.3(SYNE1):c.6252-7A>G http://identifiers.org/clinvar/197495 ^@ NM_033071.3(SYNE1):c.6313G>A (p.Val2105Ile) http://identifiers.org/clinvar/197496 ^@ NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) http://identifiers.org/clinvar/197497 ^@ NM_000260.3(MYO7A):c.5968C>T (p.Gln1990Ter) http://identifiers.org/clinvar/197498 ^@ NM_000719.6(CACNA1C):c.5644T>C (p.Ser1882Pro) http://identifiers.org/clinvar/197499 ^@ NM_001456.3(FLNA):c.7198G>A (p.Gly2400Ser) http://identifiers.org/clinvar/197500 ^@ NM_001457.3(FLNB):c.7254C>T (p.Ser2418=) http://identifiers.org/clinvar/197501 ^@ NM_001457.3(FLNB):c.7301C>T (p.Thr2434Ile) http://identifiers.org/clinvar/197502 ^@ NM_001458.4(FLNC):c.7289C>T (p.Ala2430Val) http://identifiers.org/clinvar/197503 ^@ NM_001844.4(COL2A1):c.3106C>T (p.Arg1036Ter) http://identifiers.org/clinvar/197504 ^@ NM_003494.3(DYSF):c.4820T>C (p.Ile1607Thr) http://identifiers.org/clinvar/197505 ^@ NM_005751.4(AKAP9):c.10767G>A (p.Leu3589=) http://identifiers.org/clinvar/197506 ^@ NM_022124.5(CDH23):c.5722G>A (p.Val1908Ile) http://identifiers.org/clinvar/197507 ^@ NM_023073.3(C5orf42):c.8471-3delT http://identifiers.org/clinvar/197508 ^@ NM_133433.3(NIPBL):c.7463A>G (p.Asn2488Ser) http://identifiers.org/clinvar/197509 ^@ NM_206933.2(USH2A):c.8730T>A (p.Phe2910Leu) http://identifiers.org/clinvar/197510 ^@ NM_206933.2(USH2A):c.8682-9A>G http://identifiers.org/clinvar/197511 ^@ NM_000719.6(CACNA1C):c.5772G>C (p.Leu1924=) http://identifiers.org/clinvar/197512 ^@ NM_000719.6(CACNA1C):c.5706A>G (p.Glu1902=) http://identifiers.org/clinvar/197513 ^@ NM_001035.2(RYR2):c.6829T>C (p.Cys2277Arg) http://identifiers.org/clinvar/197514 ^@ NM_001127221.1(CACNA1A):c.6401G>A (p.Arg2134Gln) http://identifiers.org/clinvar/197515 ^@ NM_001277115.1(DNAH11):c.7325A>G (p.Lys2442Arg) http://identifiers.org/clinvar/197516 ^@ NM_001369.2(DNAH5):c.7609+19C>T http://identifiers.org/clinvar/197517 ^@ NM_001369.2(DNAH5):c.7531C>T (p.Arg2511Trp) http://identifiers.org/clinvar/197518 ^@ NM_001456.3(FLNA):c.7482C>T (p.Gly2494=) http://identifiers.org/clinvar/197519 ^@ NM_001845.5(COL4A1):c.3996C>T (p.Gly1332=) http://identifiers.org/clinvar/197520 ^@ NM_001845.5(COL4A1):c.4002A>C (p.Gln1334His) http://identifiers.org/clinvar/197521 ^@ NM_003494.3(DYSF):c.4893C>T (p.Phe1631=) http://identifiers.org/clinvar/197522 ^@ NM_004006.2(DMD):c.6571C>T (p.Arg2191Trp) http://identifiers.org/clinvar/197523 ^@ NM_004006.2(DMD):c.6586T>C (p.Cys2196Arg) http://identifiers.org/clinvar/197524 ^@ NM_001271208.1(NEB):c.5555T>G (p.Met1852Arg) http://identifiers.org/clinvar/197525 ^@ NM_005045.3(RELN):c.6969G>A (p.Leu2323=) http://identifiers.org/clinvar/197526 ^@ NM_005529.6(HSPG2):c.5628A>G (p.Thr1876=) http://identifiers.org/clinvar/197527 ^@ NM_006031.5(PCNT):c.9707G>A (p.Arg3236Gln) http://identifiers.org/clinvar/197528 ^@ NM_017890.4(VPS13B):c.8248A>G (p.Ile2750Val) http://identifiers.org/clinvar/197529 ^@ NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) http://identifiers.org/clinvar/197530 ^@ NM_017890.4(VPS13B):c.8260G>A (p.Gly2754Arg) http://identifiers.org/clinvar/197531 ^@ NM_023073.3(C5orf42):c.8617A>G (p.Met2873Val) http://identifiers.org/clinvar/197532 ^@ NM_032119.3(ADGRV1):c.9631T>C (p.Ser3211Pro) http://identifiers.org/clinvar/197533 ^@ NM_015384.4(NIPBL):c.7728T>C (p.Tyr2576=) http://identifiers.org/clinvar/197534 ^@ NM_138694.3(PKHD1):c.7194G>A (p.Trp2398Ter) http://identifiers.org/clinvar/197535 ^@ NM_138694.3(PKHD1):c.7110-7T>A http://identifiers.org/clinvar/197536 ^@ NM_182914.2(SYNE2):c.7162G>A (p.Glu2388Lys) http://identifiers.org/clinvar/197537 ^@ NM_000393.4(COL5A2):c.3209G>A (p.Arg1070His) http://identifiers.org/clinvar/197538 ^@ NM_000719.6(CACNA1C):c.6116C>G (p.Ala2039Gly) http://identifiers.org/clinvar/197539 ^@ NM_001127221.1(CACNA1A):c.6740C>T (p.Ser2247Phe) http://identifiers.org/clinvar/197540 ^@ NM_001127221.1(CACNA1A):c.6661_6662insACCACCACC (p.His2220_Pro2221insHisHisHis) http://identifiers.org/clinvar/197541 ^@ NM_001369.2(DNAH5):c.7752+10T>C http://identifiers.org/clinvar/197542 ^@ NM_001456.3(FLNA):c.7662C>T (p.Ala2554=) http://identifiers.org/clinvar/197543 ^@ NM_001845.5(COL4A1):c.4056C>T (p.Tyr1352=) http://identifiers.org/clinvar/197544 ^@ NM_004006.2(DMD):c.6673_6674insGTTT (p.Leu2225Cysfs) http://identifiers.org/clinvar/197545 ^@ NM_004006.2(DMD):c.6732G>C (p.Gln2244His) http://identifiers.org/clinvar/197546 ^@ NM_001271208.1(NEB):c.5801G>A (p.Gly1934Asp) http://identifiers.org/clinvar/197547 ^@ NM_005529.6(HSPG2):c.5755C>T (p.Arg1919Cys) http://identifiers.org/clinvar/197548 ^@ NM_005529.6(HSPG2):c.5710G>A (p.Gly1904Ser) http://identifiers.org/clinvar/197549 ^@ NM_005529.6(HSPG2):c.5702-5G>A http://identifiers.org/clinvar/197550 ^@ NM_006726.4(LRBA):c.6920C>A (p.Thr2307Asn) http://identifiers.org/clinvar/197551 ^@ NM_023073.3(C5orf42):c.8796+4A>C http://identifiers.org/clinvar/197552 ^@ NM_025074.6(FRAS1):c.6468C>T (p.His2156=) http://identifiers.org/clinvar/197553 ^@ NM_025074.6(FRAS1):c.6473A>C (p.Glu2158Ala) http://identifiers.org/clinvar/197554 ^@ NM_032119.3(ADGRV1):c.9772G>A (p.Val3258Ile) http://identifiers.org/clinvar/197555 ^@ NM_138694.3(PKHD1):c.7307C>T (p.Thr2436Ile) http://identifiers.org/clinvar/197556 ^@ NM_173630.3(RTTN):c.6409A>T (p.Ile2137Phe) http://identifiers.org/clinvar/197557 ^@ NM_000088.3(COL1A1):c.3531+10C>A http://identifiers.org/clinvar/197558 ^@ NM_000426.3(LAMA2):c.6629T>C (p.Val2210Ala) http://identifiers.org/clinvar/197559 ^@ NM_000540.2(RYR1):c.7463_7475delCAAAGATGTCAGC (p.Pro2488Hisfs) http://identifiers.org/clinvar/197560 ^@ NM_000719.6(CACNA1C):c.6161A>G (p.Lys2054Arg) http://identifiers.org/clinvar/197561 ^@ NM_001110556.1(FLNA):c.7878C>T (p.Tyr2626=) http://identifiers.org/clinvar/197562 ^@ NM_001110556.1(FLNA):c.7794G>A (p.Arg2598=) http://identifiers.org/clinvar/197563 ^@ NM_001458.4(FLNC):c.7862G>A (p.Arg2621Gln) http://identifiers.org/clinvar/197564 ^@ NM_001844.4(COL2A1):c.3275G>A (p.Gly1092Asp) http://identifiers.org/clinvar/197566 ^@ NM_003494.3(DYSF):c.5272C>G (p.Gln1758Glu) http://identifiers.org/clinvar/197567 ^@ NM_004006.2(DMD):c.6906G>T (p.Trp2302Cys) http://identifiers.org/clinvar/197568 ^@ NM_005045.3(RELN):c.7431C>T (p.Ile2477=) http://identifiers.org/clinvar/197569 ^@ NM_005529.6(HSPG2):c.5934G>A (p.Arg1978=) http://identifiers.org/clinvar/197570 ^@ NM_006031.5(PCNT):c.10007A>G (p.Gln3336Arg) http://identifiers.org/clinvar/197571 ^@ NM_025074.6(FRAS1):c.6698C>T (p.Thr2233Ile) http://identifiers.org/clinvar/197572 ^@ NM_025074.6(FRAS1):c.6584A>G (p.Glu2195Gly) http://identifiers.org/clinvar/197574 ^@ NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) http://identifiers.org/clinvar/197575 ^@ NM_033071.3(SYNE1):c.6955T>C (p.Phe2319Leu) http://identifiers.org/clinvar/197576 ^@ NM_033071.3(SYNE1):c.6847-6A>G http://identifiers.org/clinvar/197577 ^@ NM_001256850.1(TTN):c.13637G>A (p.Gly4546Glu) http://identifiers.org/clinvar/197578 ^@ NM_001256850.1(TTN):c.13535A>C (p.Gln4512Pro) http://identifiers.org/clinvar/197579 ^@ NM_206933.2(USH2A):c.9286G>A (p.Val3096Met) http://identifiers.org/clinvar/197580 ^@ NM_000088.3(COL1A1):c.3761A>C (p.Asn1254Thr) http://identifiers.org/clinvar/197581 ^@ NM_000093.4(COL5A1):c.3781G>A (p.Gly1261Arg) http://identifiers.org/clinvar/197582 ^@ NM_000426.3(LAMA2):c.6816T>C (p.Asp2272=) http://identifiers.org/clinvar/197583 ^@ NM_000540.2(RYR1):c.7615-5C>T http://identifiers.org/clinvar/197584 ^@ NM_002458.2(MUC5B):c.17016C>T (p.Cys5672=) http://identifiers.org/clinvar/197585 ^@ NM_003482.3(KMT2D):c.15200C>T (p.Thr5067Met) http://identifiers.org/clinvar/197586 ^@ NM_003482.3(KMT2D):c.15535C>T (p.Arg5179Cys) http://identifiers.org/clinvar/197587 ^@ NM_003482.3(KMT2D):c.14885dupA (p.Pro4963Alafs) http://identifiers.org/clinvar/197588 ^@ NM_003482.3(KMT2D):c.15172delG (p.Val5058Cysfs) http://identifiers.org/clinvar/197589 ^@ NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) http://identifiers.org/clinvar/197590 ^@ NM_003482.3(KMT2D):c.15559G>C (p.Ala5187Pro) http://identifiers.org/clinvar/197592 ^@ NM_003494.3(DYSF):c.5364C>A (p.Asp1788Glu) http://identifiers.org/clinvar/197593 ^@ NM_004006.2(DMD):c.6982A>T (p.Lys2328Ter) http://identifiers.org/clinvar/197594 ^@ NM_005183.3(CACNA1F):c.5860G>A (p.Asp1954Asn) http://identifiers.org/clinvar/197595 ^@ NM_005183.3(CACNA1F):c.5733T>C (p.Phe1911=) http://identifiers.org/clinvar/197596 ^@ NM_023073.3(C5orf42):c.8923delT (p.Ser2975Leufs) http://identifiers.org/clinvar/197597 ^@ NM_025114.3(CEP290):c.6604delA (p.Ile2202Leufs) http://identifiers.org/clinvar/197598 ^@ NM_025114.3(CEP290):c.6523-6T>C http://identifiers.org/clinvar/197599 ^@ NM_032119.3(ADGRV1):c.10126A>G (p.Ile3376Val) http://identifiers.org/clinvar/197600 ^@ NM_001267550.2(TTN):c.15083T>G (p.Val5028Gly) http://identifiers.org/clinvar/197601 ^@ NM_138694.3(PKHD1):c.7719dupT (p.Met2574Tyrfs) http://identifiers.org/clinvar/197602 ^@ NM_138694.3(PKHD1):c.7675G>C (p.Val2559Leu) http://identifiers.org/clinvar/197603 ^@ NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu) http://identifiers.org/clinvar/197604 ^@ NM_182914.2(SYNE2):c.9284A>G (p.Lys3095Arg) http://identifiers.org/clinvar/197605 ^@ NM_182914.2(SYNE2):c.7976G>A (p.Arg2659Gln) http://identifiers.org/clinvar/197606 ^@ NM_182914.2(SYNE2):c.8911C>G (p.Gln2971Glu) http://identifiers.org/clinvar/197607 ^@ NM_206933.2(USH2A):c.9401G>A (p.Arg3134Gln) http://identifiers.org/clinvar/197608 ^@ NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) http://identifiers.org/clinvar/197609 ^@ NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) http://identifiers.org/clinvar/197610 ^@ NM_004006.2(DMD):c.7179A>T (p.Lys2393Asn) http://identifiers.org/clinvar/197611 ^@ NM_032119.3(ADGRV1):c.10323G>T (p.Gly3441=) http://identifiers.org/clinvar/197612 ^@ NM_032119.3(ADGRV1):c.10342G>A (p.Val3448Met) http://identifiers.org/clinvar/197613 ^@ NM_182914.2(SYNE2):c.9943G>A (p.Glu3315Lys) http://identifiers.org/clinvar/197614 ^@ NM_182914.2(SYNE2):c.9830C>G (p.Ala3277Gly) http://identifiers.org/clinvar/197615 ^@ NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) http://identifiers.org/clinvar/197616 ^@ NM_000016.5(ACADM):c.287-1G>C http://identifiers.org/clinvar/197617 ^@ NM_000018.3(ACADVL):c.294G>C (p.Gln98His) http://identifiers.org/clinvar/197618 ^@ NM_000023.3(SGCA):c.421C>A (p.Arg141Ser) http://identifiers.org/clinvar/197619 ^@ NM_000026.3(ADSL):c.649C>G (p.His217Asp) http://identifiers.org/clinvar/197620 ^@ NM_000036.2(AMPD1):c.567G>T (p.Gln189His) http://identifiers.org/clinvar/197621 ^@ NM_000049.2(ASPA):c.693C>T (p.Tyr231=) http://identifiers.org/clinvar/197622 ^@ NM_000050.4(ASS1):c.355A>C (p.Thr119Pro) http://identifiers.org/clinvar/197623 ^@ NM_000053.3(ATP7B):c.1840G>T (p.Gly614Cys) http://identifiers.org/clinvar/197624 ^@ NM_000070.2(CAPN3):c.759_761delGAA (p.Lys254del) http://identifiers.org/clinvar/197625 ^@ NM_000071.2(CBS):c.374G>A (p.Arg125Gln) http://identifiers.org/clinvar/197626 ^@ NM_000087.3(CNGA1):c.191G>T (p.Gly64Val) http://identifiers.org/clinvar/197627 ^@ NM_000095.2(COMP):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/197628 ^@ NM_000142.4(FGFR3):c.603T>C (p.Ile201=) http://identifiers.org/clinvar/197629 ^@ NM_000142.4(FGFR3):c.615+8C>G http://identifiers.org/clinvar/197630 ^@ NM_000142.4(FGFR3):c.588C>T (p.Arg196=) http://identifiers.org/clinvar/197631 ^@ NM_000143.3(FH):c.556-1G>C http://identifiers.org/clinvar/197632 ^@ NM_000144.4(FXN):c.626A>G (p.Asp209Gly) http://identifiers.org/clinvar/197633 ^@ NM_000152.4(GAA):c.917C>T (p.Ser306Leu) http://identifiers.org/clinvar/197635 ^@ NM_000155.3(GALT):c.406G>T (p.Asp136Tyr) http://identifiers.org/clinvar/197636 ^@ NM_000158.3(GBE1):c.568A>G (p.Arg190Gly) http://identifiers.org/clinvar/197637 ^@ NM_000169.2(GLA):c.704C>G (p.Ser235Cys) http://identifiers.org/clinvar/197638 ^@ NM_000169.2(GLA):c.661C>T (p.Gln221Ter) http://identifiers.org/clinvar/197639 ^@ NM_000169.2(GLA):c.801+3A>G http://identifiers.org/clinvar/197640 ^@ NM_000169.2(GLA):c.695T>G (p.Ile232Ser) http://identifiers.org/clinvar/197642 ^@ NM_000182.4(HADHA):c.403A>G (p.Lys135Glu) http://identifiers.org/clinvar/197643 ^@ NM_000202.7(IDS):c.690_691insT (p.Pro231Serfs) http://identifiers.org/clinvar/197644 ^@ NM_000203.4(IDUA):c.494-1G>C http://identifiers.org/clinvar/197645 ^@ NM_000208.3(INSR):c.1179G>A (p.Gly393=) http://identifiers.org/clinvar/197646 ^@ NM_000231.2(SGCG):c.407A>G (p.Gln136Arg) http://identifiers.org/clinvar/197647 ^@ NM_000231.2(SGCG):c.438C>T (p.Asp146=) http://identifiers.org/clinvar/197648 ^@ NM_000253.3(MTTP):c.419A>G (p.Asn140Ser) http://identifiers.org/clinvar/197649 ^@ NM_000256.3(MYBPC3):c.530G>C (p.Arg177Pro) http://identifiers.org/clinvar/197650 ^@ NM_000263.3(NAGLU):c.944dupA (p.Asn315Lysfs) http://identifiers.org/clinvar/197651 ^@ NM_000271.4(NPC1):c.612C>T (p.Thr204=) http://identifiers.org/clinvar/197652 ^@ NM_000272.3(NPHP1):c.421_426delGAAGAG (p.Glu141_Glu142del) http://identifiers.org/clinvar/197653 ^@ NM_000272.3(NPHP1):c.330-4G>A http://identifiers.org/clinvar/197654 ^@ NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) http://identifiers.org/clinvar/197656 ^@ NM_000287.3(PEX6):c.1313T>C (p.Leu438Pro) http://identifiers.org/clinvar/197657 ^@ NM_001127701.1(SERPINA1):c.*5_*14delCTCTCGCTCC http://identifiers.org/clinvar/197658 ^@ NM_000303.2(PMM2):c.430T>C (p.Phe144Leu) http://identifiers.org/clinvar/197659 ^@ NM_000303.2(PMM2):c.442G>A (p.Asp148Asn) http://identifiers.org/clinvar/197662 ^@ NM_000314.6(PTEN):c.424C>T (p.Arg142Trp) http://identifiers.org/clinvar/197663 ^@ NM_000362.4(TIMP3):c.459G>A (p.Leu153=) http://identifiers.org/clinvar/197664 ^@ NM_000391.3(TPP1):c.381-10dupT http://identifiers.org/clinvar/197665 ^@ NM_001008216.1(GALE):c.272delT (p.Leu91Profs) http://identifiers.org/clinvar/197666 ^@ NM_000417.2(IL2RA):c.617G>A (p.Arg206His) http://identifiers.org/clinvar/197667 ^@ NM_000428.2(LTBP2):c.1183T>C (p.Phe395Leu) http://identifiers.org/clinvar/197668 ^@ NM_000433.3(NCF2):c.606G>A (p.Ala202=) http://identifiers.org/clinvar/197669 ^@ NM_000433.3(NCF2):c.565C>T (p.Gln189Ter) http://identifiers.org/clinvar/197670 ^@ NM_000440.2(PDE6A):c.878C>T (p.Pro293Leu) http://identifiers.org/clinvar/197671 ^@ NM_000460.3(THPO):c.356G>A (p.Arg119His) http://identifiers.org/clinvar/197672 ^@ NM_000463.2(UGT1A1):c.1352C>T (p.Pro451Leu) http://identifiers.org/clinvar/197673 ^@ NM_000466.2(PEX1):c.665C>T (p.Thr222Ile) http://identifiers.org/clinvar/197674 ^@ NM_000466.2(PEX1):c.1011G>A (p.Lys337=) http://identifiers.org/clinvar/197675 ^@ NM_000466.2(PEX1):c.645C>G (p.Thr215=) http://identifiers.org/clinvar/197676 ^@ NM_000478.5(ALPL):c.398C>G (p.Ala133Gly) http://identifiers.org/clinvar/197677 ^@ NM_000478.5(ALPL):c.436G>A (p.Glu146Lys) http://identifiers.org/clinvar/197678 ^@ NM_000478.5(ALPL):c.330C= (p.Ser110=) http://identifiers.org/clinvar/197679 ^@ NM_000478.5(ALPL):c.455G>A (p.Arg152His) http://identifiers.org/clinvar/197680 ^@ NM_000487.5(ARSA):c.901C>G (p.Arg301Gly) http://identifiers.org/clinvar/197681 ^@ NM_001077488.3(GNAS):c.396C>T (p.Ile132=) http://identifiers.org/clinvar/197682 ^@ NM_000520.5(HEXA):c.536A>G (p.His179Arg) http://identifiers.org/clinvar/197683 ^@ NM_000528.3(MAN2B1):c.747C>T (p.Thr249=) http://identifiers.org/clinvar/197684 ^@ NM_000528.3(MAN2B1):c.743C>T (p.Pro248Leu) http://identifiers.org/clinvar/197685 ^@ NM_000543.4(SMPD1):c.1378A>C (p.Thr460Pro) http://identifiers.org/clinvar/197686 ^@ NM_000642.2(AGL):c.535_538delTTAG (p.Leu179Asnfs) http://identifiers.org/clinvar/197687 ^@ NM_000660.6(TGFB1):c.713-8delC http://identifiers.org/clinvar/197688 ^@ NM_000719.6(CACNA1C):c.666C>T (p.Asn222=) http://identifiers.org/clinvar/197689 ^@ NM_000742.3(CHRNA2):c.383G>A (p.Gly128Asp) http://identifiers.org/clinvar/197690 ^@ NM_000744.6(CHRNA4):c.1454G>A (p.Arg485Gln) http://identifiers.org/clinvar/197691 ^@ NM_000744.6(CHRNA4):c.868C>T (p.Leu290=) http://identifiers.org/clinvar/197692 ^@ NM_000744.6(CHRNA4):c.1441G>A (p.Gly481Ser) http://identifiers.org/clinvar/197693 ^@ NM_000744.6(CHRNA4):c.412C>T (p.Leu138=) http://identifiers.org/clinvar/197694 ^@ NM_000748.2(CHRNB2):c.547A>T (p.Ile183Phe) http://identifiers.org/clinvar/197695 ^@ NM_000748.2(CHRNB2):c.1046T>C (p.Met349Thr) http://identifiers.org/clinvar/197696 ^@ NM_000784.3(CYP27A1):c.891G>T (p.Leu297=) http://identifiers.org/clinvar/197697 ^@ NM_198903.2(GABRG2):c.582G>A (p.Leu194=) http://identifiers.org/clinvar/197698 ^@ NM_001004311.3(FIGLA):c.*5T>A http://identifiers.org/clinvar/197699 ^@ NM_001004311.3(FIGLA):c.*7A>G http://identifiers.org/clinvar/197700 ^@ NM_001004334.3(GPR179):c.1228A>G (p.Arg410Gly) http://identifiers.org/clinvar/197701 ^@ NM_001005741.2(GBA):c.431T>G (p.Leu144Arg) http://identifiers.org/clinvar/197702 ^@ NM_001005741.2(GBA):c.437C>T (p.Ser146Leu) http://identifiers.org/clinvar/197703 ^@ NM_002921.3(RGR):c.577C>G (p.Leu193Val) http://identifiers.org/clinvar/197704 ^@ NM_001015880.1(PAPSS2):c.639+1G>T http://identifiers.org/clinvar/197705 ^@ NM_001018113.2(FANCB):c.1140T>A (p.Phe380Leu) http://identifiers.org/clinvar/197706 ^@ NM_001023570.3(IQCB1):c.322C>T (p.Leu108Phe) http://identifiers.org/clinvar/197707 ^@ NM_001030311.2(CERKL):c.708T>C (p.His236=) http://identifiers.org/clinvar/197708 ^@ NM_001038603.2(MARVELD2):c.1438C>G (p.Leu480Val) http://identifiers.org/clinvar/197709 ^@ NM_001039348.2(EFEMP1):c.418C>T (p.Arg140Trp) http://identifiers.org/clinvar/197710 ^@ NM_000086.2(CLN3):c.270T>G (p.Phe90Leu) http://identifiers.org/clinvar/197711 ^@ NM_000086.2(CLN3):c.250C>A (p.His84Asn) http://identifiers.org/clinvar/197712 ^@ NM_001042432.1(CLN3):c.240G>A (p.Thr80=) http://identifiers.org/clinvar/197713 ^@ NM_001077182.2(FSCN2):c.*4C>T http://identifiers.org/clinvar/197714 ^@ NM_001077182.2(FSCN2):c.1384_1401del18 (p.Ser462_Gly467del) http://identifiers.org/clinvar/197715 ^@ NM_001080522.2(CC2D2A):c.165C>G (p.Ser55=) http://identifiers.org/clinvar/197716 ^@ NM_001100.3(ACTA1):c.685A>G (p.Met229Val) http://identifiers.org/clinvar/197717 ^@ NM_001277313.1(FMN1):c.3001C>T (p.Pro1001Ser) http://identifiers.org/clinvar/197718 ^@ NM_001111125.2(IQSEC2):c.1926G>A (p.Pro642=) http://identifiers.org/clinvar/197719 ^@ NM_001111125.2(IQSEC2):c.1711G>A (p.Gly571Ser) http://identifiers.org/clinvar/197720 ^@ NM_006920.4(SCN1A):c.638C>G (p.Ser213Trp) http://identifiers.org/clinvar/197721 ^@ NM_001182.4(ALDH7A1):c.494G>C (p.Gly165Ala) http://identifiers.org/clinvar/197722 ^@ NM_001195263.1(PDZD7):c.572T>A (p.Val191Glu) http://identifiers.org/clinvar/197723 ^@ NM_001235.3(SERPINH1):c.1051G>A (p.Val351Met) http://identifiers.org/clinvar/197724 ^@ NM_001289.5(CLIC2):c.478C>G (p.Pro160Ala) http://identifiers.org/clinvar/197725 ^@ NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) http://identifiers.org/clinvar/197726 ^@ NM_001360.2(DHCR7):c.399C>T (p.Ala133=) http://identifiers.org/clinvar/197727 ^@ NM_001110556.1(FLNA):c.733G>A (p.Glu245Lys) http://identifiers.org/clinvar/197728 ^@ NM_001456.3(FLNA):c.732C>T (p.Pro244=) http://identifiers.org/clinvar/197729 ^@ NM_001605.2(AARS):c.600C>T (p.Ala200=) http://identifiers.org/clinvar/197730 ^@ NM_001848.2(COL6A1):c.717C>T (p.Ile239=) http://identifiers.org/clinvar/197731 ^@ NM_001848.2(COL6A1):c.595C>T (p.Arg199Cys) http://identifiers.org/clinvar/197732 ^@ NM_001849.3(COL6A2):c.801+1G>A http://identifiers.org/clinvar/197733 ^@ NM_001851.4(COL9A1):c.635T>C (p.Ile212Thr) http://identifiers.org/clinvar/197734 ^@ NM_001853.3(COL9A3):c.308G>A (p.Arg103Gln) http://identifiers.org/clinvar/197735 ^@ NM_080629.2(COL11A1):c.652-7_652-6delTT http://identifiers.org/clinvar/197736 ^@ NM_001854.3(COL11A1):c.652-6dupT http://identifiers.org/clinvar/197737 ^@ NM_002024.5(FMR1):c.348T>C (p.Asn116=) http://identifiers.org/clinvar/197738 ^@ NM_002025.3(AFF2):c.1121C>A (p.Ser374Tyr) http://identifiers.org/clinvar/197739 ^@ NM_002206.2(ITGA7):c.671-5C>A http://identifiers.org/clinvar/197740 ^@ NM_002225.3(IVD):c.559+57A>G http://identifiers.org/clinvar/197741 ^@ NM_001131005.2(MEF2C):c.483A>G (p.Ser161=) http://identifiers.org/clinvar/197742 ^@ NM_002420.5(TRPM1):c.441C>T (p.His147=) http://identifiers.org/clinvar/197743 ^@ NM_002427.3(MMP13):c.772dupG (p.Asp258Glyfs) http://identifiers.org/clinvar/197744 ^@ NM_002435.2(MPI):c.576C>T (p.Ser192=) http://identifiers.org/clinvar/197745 ^@ NM_002546.3(TNFRSF11B):c.885T>A (p.Leu295=) http://identifiers.org/clinvar/197746 ^@ NM_002578.4(PAK3):c.101C>T (p.Pro34Leu) http://identifiers.org/clinvar/197747 ^@ NM_002880.3(RAF1):c.438C>A (p.Phe146Leu) http://identifiers.org/clinvar/197748 ^@ NM_003073.4(SMARCB1):c.512A>G (p.His171Arg) http://identifiers.org/clinvar/197749 ^@ NM_003073.4(SMARCB1):c.585C>T (p.Ile195=) http://identifiers.org/clinvar/197750 ^@ NM_003179.2(SYP):c.612G>A (p.Ser204=) http://identifiers.org/clinvar/197751 ^@ NM_003289.3(TPM2):c.493-11_493-8delACTC http://identifiers.org/clinvar/197752 ^@ NM_003322.5(TULP1):c.371_394del24 (p.Asp124_Glu131del) http://identifiers.org/clinvar/197753 ^@ NM_003336.3(UBE2A):c.321A>G (p.Thr107=) http://identifiers.org/clinvar/197754 ^@ NM_003630.2(PEX3):c.456+3A>G http://identifiers.org/clinvar/197755 ^@ NM_033012.3(TNFSF11):c.372C>A (p.Ser124=) http://identifiers.org/clinvar/197756 ^@ NM_003835.3(RGS9):c.313_314delACinsGG (p.Thr105Gly) http://identifiers.org/clinvar/197757 ^@ NM_003896.3(ST3GAL5):c.738G>C (p.Glu246Asp) http://identifiers.org/clinvar/197758 ^@ NM_004006.2(DMD):c.291dupT (p.Asp98Terfs) http://identifiers.org/clinvar/197759 ^@ NM_004260.3(RECQL4):c.1048_1049delAG (p.Arg350Glyfs) http://identifiers.org/clinvar/197760 ^@ NM_004260.3(RECQL4):c.543G>A (p.Gln181=) http://identifiers.org/clinvar/197761 ^@ NM_004369.3(COL6A3):c.1478T>C (p.Val493Ala) http://identifiers.org/clinvar/197762 ^@ NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) http://identifiers.org/clinvar/197763 ^@ NM_004380.2(CREBBP):c.1275T>C (p.His425=) http://identifiers.org/clinvar/197764 ^@ NM_004565.2(PEX14):c.349G>T (p.Ala117Ser) http://identifiers.org/clinvar/197765 ^@ NM_004643.3(PABPN1):c.661T>C (p.Ser221Pro) http://identifiers.org/clinvar/197766 ^@ NM_004698.2(PRPF3):c.501A>G (p.Thr167=) http://identifiers.org/clinvar/197767 ^@ NM_004817.3(TJP2):c.745_746delTAinsAT (p.Tyr249Ile) http://identifiers.org/clinvar/197768 ^@ NM_004817.3(TJP2):c.577C>T (p.Arg193Trp) http://identifiers.org/clinvar/197769 ^@ NM_004985.4(KRAS):c.470A>G (p.Tyr157Cys) http://identifiers.org/clinvar/197770 ^@ NM_005120.2(MED12):c.653C>T (p.Thr218Met) http://identifiers.org/clinvar/197771 ^@ NM_001077482.2(NR1I3):c.431A>G (p.His144Arg) http://identifiers.org/clinvar/197772 ^@ NM_001077482.2(NR1I3):c.540C>T (p.Pro180=) http://identifiers.org/clinvar/197773 ^@ NM_001077482.2(NR1I3):c.541G>A (p.Val181Ile) http://identifiers.org/clinvar/197774 ^@ NM_005183.3(CACNA1F):c.571C>G (p.Pro191Ala) http://identifiers.org/clinvar/197775 ^@ NM_005334.2(HCFC1):c.713-13C>T http://identifiers.org/clinvar/197776 ^@ NM_005572.3(LMNA):c.886_887insA (p.Arg296Glnfs) http://identifiers.org/clinvar/197777 ^@ NM_005609.3(PYGM):c.660G>A (p.Gln220=) http://identifiers.org/clinvar/197778 ^@ NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) http://identifiers.org/clinvar/197779 ^@ NM_005677.3(COLQ):c.391A>G (p.Lys131Glu) http://identifiers.org/clinvar/197780 ^@ NM_006019.3(TCIRG1):c.479G>A (p.Gly160Glu) http://identifiers.org/clinvar/197781 ^@ NM_006031.5(PCNT):c.959G>A (p.Arg320Lys) http://identifiers.org/clinvar/197782 ^@ NM_001014796.1(DDR2):c.408T>C (p.His136=) http://identifiers.org/clinvar/197783 ^@ NM_006214.3(PHYH):c.415-11dupT http://identifiers.org/clinvar/197784 ^@ NM_006343.2(MERTK):c.791C>G (p.Ala264Gly) http://identifiers.org/clinvar/197785 ^@ NM_032985.4(SEC23B):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/197786 ^@ NM_006383.3(CIB2):c.462G>A (p.Glu154=) http://identifiers.org/clinvar/197787 ^@ NM_006383.3(CIB2):c.448G>A (p.Asp150Asn) http://identifiers.org/clinvar/197788 ^@ NM_006432.3(NPC2):c.442-4A>C http://identifiers.org/clinvar/197789 ^@ NM_006516.2(SLC2A1):c.567G>C (p.Leu189=) http://identifiers.org/clinvar/197790 ^@ NM_001256821.1(RIT1):c.426C>T (p.Asp142=) http://identifiers.org/clinvar/197791 ^@ NM_007075.3(WDR45):c.235+18G>T http://identifiers.org/clinvar/197792 ^@ NM_007254.3(PNKP):c.501G>A (p.Val167=) http://identifiers.org/clinvar/197793 ^@ NM_012144.3(DNAI1):c.370C>T (p.Arg124Cys) http://identifiers.org/clinvar/197794 ^@ NM_012301.3(MAGI2):c.927A>T (p.Glu309Asp) http://identifiers.org/clinvar/197795 ^@ NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) http://identifiers.org/clinvar/197796 ^@ NM_013382.5(POMT2):c.643T>C (p.Ser215Pro) http://identifiers.org/clinvar/197797 ^@ NM_014140.3(SMARCAL1):c.962G>A (p.Gly321Asp) http://identifiers.org/clinvar/197798 ^@ NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) http://identifiers.org/clinvar/197799 ^@ NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) http://identifiers.org/clinvar/197800 ^@ NM_014141.5(CNTNAP2):c.551-8dupT http://identifiers.org/clinvar/197801 ^@ NM_014191.3(SCN8A):c.491C>T (p.Thr164Met) http://identifiers.org/clinvar/197802 ^@ NM_014208.3(DSPP):c.2673C>T (p.Ser891=) http://identifiers.org/clinvar/197803 ^@ NM_014208.3(DSPP):c.2883C>T (p.Asp961=) http://identifiers.org/clinvar/197804 ^@ NM_014208.3(DSPP):c.2874T>C (p.Asn958=) http://identifiers.org/clinvar/197805 ^@ NM_014208.3(DSPP):c.2688T>C (p.Asp896=) http://identifiers.org/clinvar/197806 ^@ NM_014208.3(DSPP):c.2679C>T (p.Asp893=) http://identifiers.org/clinvar/197807 ^@ NM_014208.3(DSPP):c.2796C>T (p.Asn932=) http://identifiers.org/clinvar/197808 ^@ NM_014208.3(DSPP):c.2859T>C (p.Ser953=) http://identifiers.org/clinvar/197809 ^@ NM_014208.3(DSPP):c.2781T>C (p.Ser927=) http://identifiers.org/clinvar/197810 ^@ NM_014208.3(DSPP):c.2784T>C (p.Asn928=) http://identifiers.org/clinvar/197811 ^@ NM_014208.3(DSPP):c.3174T>C (p.Ser1058=) http://identifiers.org/clinvar/197812 ^@ NM_148898.3(FOXP2):c.624_626delGCA (p.Gln216del) http://identifiers.org/clinvar/197813 ^@ NM_148898.3(FOXP2):c.540_542delGCA (p.Gln216del) http://identifiers.org/clinvar/197814 ^@ NM_014946.3(SPAST):c.683-9C>T http://identifiers.org/clinvar/197815 ^@ NM_001271620.2(ZNF423):c.2729C>T (p.Ser910Leu) http://identifiers.org/clinvar/197816 ^@ NM_015069.4(ZNF423):c.1962C>T (p.His654=) http://identifiers.org/clinvar/197817 ^@ NM_001271620.2(ZNF423):c.1451G>T (p.Gly484Val) http://identifiers.org/clinvar/197818 ^@ NM_015069.4(ZNF423):c.1989G>A (p.Ala663=) http://identifiers.org/clinvar/197819 ^@ NM_001271620.2(ZNF423):c.2445C>T (p.Ser815=) http://identifiers.org/clinvar/197820 ^@ NM_001271620.2(ZNF423):c.603C>T (p.Asp201=) http://identifiers.org/clinvar/197821 ^@ NM_001271620.2(ZNF423):c.2108C>T (p.Ala703Val) http://identifiers.org/clinvar/197822 ^@ NM_015069.4(ZNF423):c.3267C>T (p.Tyr1089=) http://identifiers.org/clinvar/197823 ^@ NM_001271620.2(ZNF423):c.964T>C (p.Ser322Pro) http://identifiers.org/clinvar/197824 ^@ NM_001271620.2(ZNF423):c.2196C>T (p.Thr732=) http://identifiers.org/clinvar/197825 ^@ NM_001271620.2(ZNF423):c.928G>A (p.Ala310Thr) http://identifiers.org/clinvar/197826 ^@ NM_015139.2(SLC35D1):c.393-3delC http://identifiers.org/clinvar/197827 ^@ NM_001031717.3(CRELD1):c.498C>T (p.Tyr166=) http://identifiers.org/clinvar/197828 ^@ NM_001008222.2(ZDHHC9):c.487+15A>G http://identifiers.org/clinvar/197829 ^@ NM_016180.4(SLC45A2):c.1122C= (p.Phe374=) http://identifiers.org/clinvar/197830 ^@ NM_016725.2(FOLR1):c.719C>T (p.Ala240Val) http://identifiers.org/clinvar/197831 ^@ NM_016725.2(FOLR1):c.510A>G (p.Ala170=) http://identifiers.org/clinvar/197833 ^@ NM_018100.3(EFHC1):c.916A>G (p.Lys306Glu) http://identifiers.org/clinvar/197834 ^@ NM_018344.5(SLC29A3):c.680G>A (p.Arg227Lys) http://identifiers.org/clinvar/197835 ^@ NM_018418.4(SPATA7):c.364T>A (p.Leu122Ile) http://identifiers.org/clinvar/197836 ^@ NM_018418.4(SPATA7):c.366A>T (p.Leu122Phe) http://identifiers.org/clinvar/197837 ^@ NM_018668.4(VPS33B):c.357G>A (p.Lys119=) http://identifiers.org/clinvar/197838 ^@ NM_018943.2(TUBA8):c.1250A>C (p.Glu417Ala) http://identifiers.org/clinvar/197839 ^@ NM_018977.3(NLGN3):c.779G>A (p.Arg260His) http://identifiers.org/clinvar/197840 ^@ NM_019098.4(CNGB3):c.539C>T (p.Pro180Leu) http://identifiers.org/clinvar/197842 ^@ NM_181332.2(NLGN4X):c.1111G>A (p.Val371Ile) http://identifiers.org/clinvar/197843 ^@ NM_181332.2(NLGN4X):c.935C>T (p.Thr312Met) http://identifiers.org/clinvar/197844 ^@ NM_021167.4(GATAD1):c.*4A>G http://identifiers.org/clinvar/197845 ^@ NM_021830.4(TWNK):c.1827C>A (p.Arg609=) http://identifiers.org/clinvar/197846 ^@ NM_001008211.1(OPTN):c.553-5C>T http://identifiers.org/clinvar/197847 ^@ NM_022124.5(CDH23):c.310G>A (p.Glu104Lys) http://identifiers.org/clinvar/197848 ^@ NM_001193301.1(SEMA4A):c.364-1G>T http://identifiers.org/clinvar/197849 ^@ NM_022455.4(NSD1):c.2765C>T (p.Thr922Met) http://identifiers.org/clinvar/197850 ^@ NM_022455.4(NSD1):c.3383C>T (p.Ser1128Phe) http://identifiers.org/clinvar/197851 ^@ NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg) http://identifiers.org/clinvar/197852 ^@ NM_022455.4(NSD1):c.3762C>T (p.Pro1254=) http://identifiers.org/clinvar/197853 ^@ NM_022455.4(NSD1):c.3110A>G (p.Gln1037Arg) http://identifiers.org/clinvar/197854 ^@ NM_022455.4(NSD1):c.3154C>T (p.Arg1052Cys) http://identifiers.org/clinvar/197855 ^@ NM_022455.4(NSD1):c.3556_3557delGCinsAT (p.Ala1186Ile) http://identifiers.org/clinvar/197856 ^@ NM_022455.4(NSD1):c.1635G>A (p.Thr545=) http://identifiers.org/clinvar/197857 ^@ NM_024022.2(TMPRSS3):c.326G>A (p.Arg109Gln) http://identifiers.org/clinvar/197858 ^@ NM_024312.4(GNPTAB):c.377T>A (p.Leu126Ter) http://identifiers.org/clinvar/197859 ^@ NM_024675.3(PALB2):c.2505C>T (p.Ser835=) http://identifiers.org/clinvar/197860 ^@ NM_024887.3(DHDDS):c.324-10C>T http://identifiers.org/clinvar/197861 ^@ NM_025074.6(FRAS1):c.370C>T (p.Arg124Ter) http://identifiers.org/clinvar/197862 ^@ NM_031433.3(MFRP):c.506A>G (p.His169Arg) http://identifiers.org/clinvar/197863 ^@ NM_031433.3(MFRP):c.641+9C>T http://identifiers.org/clinvar/197864 ^@ NM_001015877.1(PHF6):c.418+4C>T http://identifiers.org/clinvar/197865 ^@ NM_052985.3(IFT122):c.339A>T (p.Arg113Ser) http://identifiers.org/clinvar/197866 ^@ NM_001177317.1(SLC34A3):c.375C>T (p.Gly125=) http://identifiers.org/clinvar/197867 ^@ NM_080916.2(DGUOK):c.630G>A (p.Glu210=) http://identifiers.org/clinvar/197868 ^@ NM_130838.1(UBE3A):c.1762_1763delCA (p.Gln588Valfs) http://identifiers.org/clinvar/197869 ^@ NM_015384.4(NIPBL):c.458+7T>C http://identifiers.org/clinvar/197870 ^@ NM_138694.3(PKHD1):c.325G>A (p.Ala109Thr) http://identifiers.org/clinvar/197871 ^@ NM_144966.5(FREM1):c.541C>T (p.Arg181Trp) http://identifiers.org/clinvar/197872 ^@ NM_144966.5(FREM1):c.571G>A (p.Gly191Arg) http://identifiers.org/clinvar/197873 ^@ NM_144969.2(ZDHHC15):c.380-5dupT http://identifiers.org/clinvar/197874 ^@ NM_001128225.2(SLC39A13):c.539C>G (p.Ala180Gly) http://identifiers.org/clinvar/197875 ^@ NM_152443.2(RDH12):c.317G>A (p.Arg106Gln) http://identifiers.org/clinvar/197876 ^@ NM_152443.2(RDH12):c.195A>C (p.Arg65=) http://identifiers.org/clinvar/197877 ^@ NM_152443.2(RDH12):c.300C>T (p.Ser100=) http://identifiers.org/clinvar/197878 ^@ NM_152443.2(RDH12):c.210dupC (p.Arg71Glnfs) http://identifiers.org/clinvar/197879 ^@ NM_152443.2(RDH12):c.302A>G (p.Asp101Gly) http://identifiers.org/clinvar/197880 ^@ NM_153026.2(PRICKLE1):c.434C>T (p.Ala145Val) http://identifiers.org/clinvar/197881 ^@ NM_153240.4(NPHP3):c.864T>A (p.Thr288=) http://identifiers.org/clinvar/197882 ^@ NM_007130.3(ZNF41):c.301G>A (p.Ala101Thr) http://identifiers.org/clinvar/197883 ^@ NM_153427.2(PITX2):c.272G>A (p.Arg91Gln) http://identifiers.org/clinvar/197884 ^@ NM_153427.2(PITX2):c.403G>A (p.Ala135Thr) http://identifiers.org/clinvar/197886 ^@ NM_153818.1(PEX10):c.927_928insG (p.His310Alafs) http://identifiers.org/clinvar/197887 ^@ NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) http://identifiers.org/clinvar/197888 ^@ NM_153819.1(RASGRP2):c.240-6C>T http://identifiers.org/clinvar/197889 ^@ NM_172107.3(KCNQ2):c.761A>G (p.Glu254Gly) http://identifiers.org/clinvar/197890 ^@ NM_172107.3(KCNQ2):c.774C>T (p.Asn258=) http://identifiers.org/clinvar/197891 ^@ NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) http://identifiers.org/clinvar/197892 ^@ NM_172107.3(KCNQ2):c.701C>T (p.Thr234Ile) http://identifiers.org/clinvar/197893 ^@ NM_172364.4(CACNA2D4):c.649+5C>T http://identifiers.org/clinvar/197894 ^@ NM_181507.1(HPS5):c.345G>A (p.Met115Ile) http://identifiers.org/clinvar/197895 ^@ NM_182894.2(VSX2):c.871G>A (p.Asp291Asn) http://identifiers.org/clinvar/197896 ^@ NM_182894.2(VSX2):c.831G>A (p.Leu277=) http://identifiers.org/clinvar/197897 ^@ NM_198428.2(BBS9):c.329-7dupT http://identifiers.org/clinvar/197898 ^@ NM_198525.2(KIF7):c.1270C>T (p.Arg424Cys) http://identifiers.org/clinvar/197899 ^@ NM_198525.2(KIF7):c.1429G>A (p.Ala477Thr) http://identifiers.org/clinvar/197900 ^@ NM_198525.2(KIF7):c.1266C>G (p.Leu422=) http://identifiers.org/clinvar/197901 ^@ NM_198525.2(KIF7):c.1093C>A (p.Pro365Thr) http://identifiers.org/clinvar/197902 ^@ NM_198525.2(KIF7):c.1360C>T (p.Leu454=) http://identifiers.org/clinvar/197903 ^@ NM_198525.2(KIF7):c.1418C>G (p.Ala473Gly) http://identifiers.org/clinvar/197904 ^@ NM_198859.3(PRICKLE2):c.444C>T (p.Arg148=) http://identifiers.org/clinvar/197905 ^@ NM_203473.2(PORCN):c.633C>T (p.Gly211=) http://identifiers.org/clinvar/197907 ^@ NM_213599.2(ANO5):c.294G>A (p.Ala98=) http://identifiers.org/clinvar/197908 ^@ NM_213599.2(ANO5):c.201_205delCAAAG (p.Ser67Argfs) http://identifiers.org/clinvar/197909 ^@ NM_213599.2(ANO5):c.228G>C (p.Gly76=) http://identifiers.org/clinvar/197910 ^@ NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) http://identifiers.org/clinvar/197911 ^@ NM_001854.3(COL11A1):c.3811G>T (p.Val1271Leu) http://identifiers.org/clinvar/197912 ^@ NM_004006.2(DMD):c.7247dupT (p.Leu2416Phefs) http://identifiers.org/clinvar/197913 ^@ NM_004006.2(DMD):c.7295_7296delCC (p.Thr2432Asnfs) http://identifiers.org/clinvar/197914 ^@ NM_017890.4(VPS13B):c.9206A>C (p.Glu3069Ala) http://identifiers.org/clinvar/197915 ^@ NM_025074.6(FRAS1):c.7039G>T (p.Val2347Phe) http://identifiers.org/clinvar/197916 ^@ NM_001267550.2(TTN):c.15775+9A>G http://identifiers.org/clinvar/197917 ^@ NM_138694.3(PKHD1):c.8090G>A (p.Arg2697Lys) http://identifiers.org/clinvar/197918 ^@ NM_000088.3(COL1A1):c.4249-12G>A http://identifiers.org/clinvar/197919 ^@ NM_000138.4(FBN1):c.6189G>A (p.Ala2063=) http://identifiers.org/clinvar/197920 ^@ NM_000393.4(COL5A2):c.3836T>C (p.Ile1279Thr) http://identifiers.org/clinvar/197921 ^@ NM_000426.3(LAMA2):c.7300+10T>A http://identifiers.org/clinvar/197922 ^@ NM_000540.2(RYR1):c.8073C>T (p.Tyr2691=) http://identifiers.org/clinvar/197923 ^@ NM_001844.4(COL2A1):c.3791_3794delACCA (p.Asn1264Argfs) http://identifiers.org/clinvar/197925 ^@ NM_004006.2(DMD):c.7444delC (p.Thr2483Profs) http://identifiers.org/clinvar/197926 ^@ NM_005045.3(RELN):c.8120-9T>C http://identifiers.org/clinvar/197927 ^@ NM_022124.5(CDH23):c.7077A>C (p.Thr2359=) http://identifiers.org/clinvar/197928 ^@ NM_032119.3(ADGRV1):c.10563T>C (p.Leu3521=) http://identifiers.org/clinvar/197929 ^@ NM_033071.3(SYNE1):c.7668C>T (p.His2556=) http://identifiers.org/clinvar/197930 ^@ NM_080680.2(COL11A2):c.3699C>T (p.Arg1233=) http://identifiers.org/clinvar/197931 ^@ NM_182914.2(SYNE2):c.10424G>A (p.Ser3475Asn) http://identifiers.org/clinvar/197932 ^@ NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) http://identifiers.org/clinvar/197933 ^@ NM_001080463.1(DYNC2H1):c.8428G>T (p.Gly2810Cys) http://identifiers.org/clinvar/197934 ^@ NM_001845.5(COL4A1):c.4994G>A (p.Cys1665Tyr) http://identifiers.org/clinvar/197935 ^@ NM_003482.3(KMT2D):c.16412+1G>T http://identifiers.org/clinvar/197936 ^@ NM_004006.2(DMD):c.7658G>A (p.Arg2553Gln) http://identifiers.org/clinvar/197937 ^@ NM_005045.3(RELN):c.8489+4_8489+7delAGTA http://identifiers.org/clinvar/197938 ^@ NM_017890.4(VPS13B):c.9626A>G (p.Glu3209Gly) http://identifiers.org/clinvar/197939 ^@ NM_032119.3(ADGRV1):c.10974G>T (p.Gln3658His) http://identifiers.org/clinvar/197940 ^@ NM_033071.3(SYNE1):c.7997C>A (p.Thr2666Asn) http://identifiers.org/clinvar/197941 ^@ NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) http://identifiers.org/clinvar/197942 ^@ NM_138694.3(PKHD1):c.8174-10dupT http://identifiers.org/clinvar/197943 ^@ NM_138694.3(PKHD1):c.8239G>C (p.Glu2747Gln) http://identifiers.org/clinvar/197944 ^@ NM_206933.2(USH2A):c.10341C>T (p.Ala3447=) http://identifiers.org/clinvar/197945 ^@ NM_000426.3(LAMA2):c.7440-9G>A http://identifiers.org/clinvar/197946 ^@ NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) http://identifiers.org/clinvar/197947 ^@ NM_001844.4(COL2A1):c.4306G>A (p.Asp1436Asn) http://identifiers.org/clinvar/197948 ^@ NM_001844.4(COL2A1):c.4104C>T (p.Pro1368=) http://identifiers.org/clinvar/197949 ^@ NM_080629.2(COL11A1):c.4020A>G (p.Gln1340=) http://identifiers.org/clinvar/197951 ^@ NM_004006.2(DMD):c.7747A>G (p.Thr2583Ala) http://identifiers.org/clinvar/197952 ^@ NM_005045.3(RELN):c.8593G>A (p.Asp2865Asn) http://identifiers.org/clinvar/197953 ^@ NM_017890.4(VPS13B):c.9720C>T (p.Leu3240=) http://identifiers.org/clinvar/197954 ^@ NM_017890.4(VPS13B):c.9721G>A (p.Gly3241Arg) http://identifiers.org/clinvar/197955 ^@ NM_033071.3(SYNE1):c.8185G>A (p.Val2729Ile) http://identifiers.org/clinvar/197956 ^@ NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) http://identifiers.org/clinvar/197957 ^@ NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) http://identifiers.org/clinvar/197958 ^@ NM_138694.3(PKHD1):c.8411T>A (p.Met2804Lys) http://identifiers.org/clinvar/197959 ^@ NM_000093.4(COL5A1):c.4184delC (p.Pro1395Glnfs) http://identifiers.org/clinvar/197960 ^@ NM_000540.2(RYR1):c.8505A>T (p.Glu2835Asp) http://identifiers.org/clinvar/197961 ^@ NM_001035.2(RYR2):c.8147A>T (p.Lys2716Ile) http://identifiers.org/clinvar/197962 ^@ NM_001844.4(COL2A1):c.4447_4450delCCGG (p.Pro1483Serfs) http://identifiers.org/clinvar/197963 ^@ NM_001844.4(COL2A1):c.4414G>C (p.Gly1472Arg) http://identifiers.org/clinvar/197964 ^@ NM_001854.3(COL11A1):c.4057G>A (p.Ala1353Thr) http://identifiers.org/clinvar/197965 ^@ NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) http://identifiers.org/clinvar/197966 ^@ NM_003494.3(DYSF):c.6121C>T (p.Arg2041Trp) http://identifiers.org/clinvar/197967 ^@ NM_003494.3(DYSF):c.6057G>A (p.Arg2019=) http://identifiers.org/clinvar/197968 ^@ NM_004006.2(DMD):c.7988C>G (p.Thr2663Arg) http://identifiers.org/clinvar/197969 ^@ NM_005045.3(RELN):c.8843+3A>C http://identifiers.org/clinvar/197970 ^@ NM_005045.3(RELN):c.8809G>T (p.Ala2937Ser) http://identifiers.org/clinvar/197971 ^@ NM_005045.3(RELN):c.8703C>A (p.Ile2901=) http://identifiers.org/clinvar/197972 ^@ NM_005045.3(RELN):c.8668-8A>G http://identifiers.org/clinvar/197973 ^@ NM_025114.3(CEP290):c.7416T>A (p.Ser2472Arg) http://identifiers.org/clinvar/197974 ^@ NM_032119.3(ADGRV1):c.11157C>A (p.Ile3719=) http://identifiers.org/clinvar/197975 ^@ NM_033071.3(SYNE1):c.8424C>T (p.Tyr2808=) http://identifiers.org/clinvar/197976 ^@ NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) http://identifiers.org/clinvar/197977 ^@ NM_000093.4(COL5A1):c.4234G>A (p.Glu1412Lys) http://identifiers.org/clinvar/197978 ^@ NM_001369.2(DNAH5):c.9355A>G (p.Lys3119Glu) http://identifiers.org/clinvar/197979 ^@ NM_004006.2(DMD):c.8147A>G (p.Gln2716Arg) http://identifiers.org/clinvar/197980 ^@ NM_004006.2(DMD):c.8184delC (p.Lys2729Argfs) http://identifiers.org/clinvar/197981 ^@ NM_004006.2(DMD):c.8076A>G (p.Gln2692=) http://identifiers.org/clinvar/197982 ^@ NM_005045.3(RELN):c.8863C>T (p.Arg2955Cys) http://identifiers.org/clinvar/197983 ^@ NM_033071.3(SYNE1):c.8553G>A (p.Met2851Ile) http://identifiers.org/clinvar/197984 ^@ NM_080680.2(COL11A2):c.3999_4000delAGinsGC (p.Gly1334Arg) http://identifiers.org/clinvar/197985 ^@ NM_080680.2(COL11A2):c.4000G>C (p.Gly1334Arg) http://identifiers.org/clinvar/197986 ^@ NM_182914.2(SYNE2):c.11146G>A (p.Ala3716Thr) http://identifiers.org/clinvar/197987 ^@ NM_000426.3(LAMA2):c.7810C>T (p.Arg2604Ter) http://identifiers.org/clinvar/197988 ^@ NM_001130438.2(SPTAN1):c.7233C>T (p.Ser2411=) http://identifiers.org/clinvar/197989 ^@ NM_001854.3(COL11A1):c.4185C>T (p.Val1395=) http://identifiers.org/clinvar/197990 ^@ NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) http://identifiers.org/clinvar/197991 ^@ NM_004006.2(DMD):c.8374A>G (p.Lys2792Glu) http://identifiers.org/clinvar/197992 ^@ NM_004006.2(DMD):c.8226A>G (p.Gln2742=) http://identifiers.org/clinvar/197993 ^@ NM_017890.4(VPS13B):c.10593A>T (p.Leu3531Phe) http://identifiers.org/clinvar/197994 ^@ NM_017890.4(VPS13B):c.10388A>G (p.Asn3463Ser) http://identifiers.org/clinvar/197995 ^@ NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) http://identifiers.org/clinvar/197996 ^@ NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His) http://identifiers.org/clinvar/197998 ^@ NM_001080463.1(DYNC2H1):c.9045T>G (p.Asp3015Glu) http://identifiers.org/clinvar/197999 ^@ NM_001080463.1(DYNC2H1):c.9034G>A (p.Val3012Ile) http://identifiers.org/clinvar/198000 ^@ NM_001130438.2(SPTAN1):c.7392G>A (p.Ala2464=) http://identifiers.org/clinvar/198001 ^@ NM_001376.4(DYNC1H1):c.10887C>T (p.Phe3629=) http://identifiers.org/clinvar/198002 ^@ NM_001271208.1(NEB):c.7917T>C (p.Asp2639=) http://identifiers.org/clinvar/198003 ^@ NM_001271208.1(NEB):c.7861G>A (p.Asp2621Asn) http://identifiers.org/clinvar/198004 ^@ NM_005045.3(RELN):c.9321C>T (p.Leu3107=) http://identifiers.org/clinvar/198005 ^@ NM_005045.3(RELN):c.9298_9300delAAG (p.Lys3100del) http://identifiers.org/clinvar/198006 ^@ NM_005045.3(RELN):c.9276C>T (p.His3092=) http://identifiers.org/clinvar/198007 ^@ NM_005529.6(HSPG2):c.7438C>T (p.Arg2480Trp) http://identifiers.org/clinvar/198008 ^@ NM_032119.3(ADGRV1):c.11761G>A (p.Ala3921Thr) http://identifiers.org/clinvar/198009 ^@ NM_206933.2(USH2A):c.11124C>G (p.Pro3708=) http://identifiers.org/clinvar/198010 ^@ NM_000051.3(ATM):c.8518T>C (p.Leu2840=) http://identifiers.org/clinvar/198011 ^@ NM_004006.2(DMD):c.8656C>T (p.Gln2886Ter) http://identifiers.org/clinvar/198012 ^@ NM_005045.3(RELN):c.9414C>T (p.Ser3138=) http://identifiers.org/clinvar/198013 ^@ NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) http://identifiers.org/clinvar/198014 ^@ NM_033071.3(SYNE1):c.9169C>G (p.Leu3057Val) http://identifiers.org/clinvar/198015 ^@ NM_138694.3(PKHD1):c.9363T>C (p.Asn3121=) http://identifiers.org/clinvar/198016 ^@ NM_138694.3(PKHD1):c.9299A>G (p.Glu3100Gly) http://identifiers.org/clinvar/198017 ^@ NM_001080463.1(DYNC2H1):c.9254C>T (p.Ala3085Val) http://identifiers.org/clinvar/198018 ^@ NM_001277115.1(DNAH11):c.9640G>A (p.Ala3214Thr) http://identifiers.org/clinvar/198019 ^@ NM_001854.3(COL11A1):c.4416C>A (p.Asp1472Glu) http://identifiers.org/clinvar/198020 ^@ NM_004006.2(DMD):c.8669-2A>C http://identifiers.org/clinvar/198021 ^@ NM_017890.4(VPS13B):c.11453C>G (p.Ser3818Ter) http://identifiers.org/clinvar/198022 ^@ NM_025074.6(FRAS1):c.8827C>T (p.Arg2943Trp) http://identifiers.org/clinvar/198023 ^@ NM_025074.6(FRAS1):c.8846A>T (p.Tyr2949Phe) http://identifiers.org/clinvar/198024 ^@ NM_032119.3(ADGRV1):c.12208G>A (p.Val4070Ile) http://identifiers.org/clinvar/198025 ^@ NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) http://identifiers.org/clinvar/198026 ^@ NM_000018.3(ACADVL):c.455G>A (p.Gly152Asp) http://identifiers.org/clinvar/198027 ^@ NM_000018.3(ACADVL):c.427G>T (p.Gly143Cys) http://identifiers.org/clinvar/198028 ^@ NM_000019.3(ACAT1):c.436-4G>A http://identifiers.org/clinvar/198029 ^@ NM_000019.3(ACAT1):c.455G>C (p.Gly152Ala) http://identifiers.org/clinvar/198030 ^@ NM_000019.3(ACAT1):c.473A>G (p.Asn158Ser) http://identifiers.org/clinvar/198031 ^@ NM_000023.3(SGCA):c.700G>A (p.Asp234Asn) http://identifiers.org/clinvar/198032 ^@ NM_000023.3(SGCA):c.690G>C (p.Leu230=) http://identifiers.org/clinvar/198033 ^@ NM_000023.3(SGCA):c.680C>G (p.Pro227Arg) http://identifiers.org/clinvar/198034 ^@ NM_000030.2(AGXT):c.654G>A (p.Ser218=) http://identifiers.org/clinvar/198035 ^@ NM_000033.3(ABCD1):c.1516A>C (p.Thr506Pro) http://identifiers.org/clinvar/198036 ^@ NM_000036.2(AMPD1):c.735C>T (p.Asp245=) http://identifiers.org/clinvar/198037 ^@ NM_000049.2(ASPA):c.831C>T (p.Thr277=) http://identifiers.org/clinvar/198039 ^@ NM_001039523.2(CHRNA1):c.730C>T (p.Leu244=) http://identifiers.org/clinvar/198040 ^@ NM_000089.3(COL1A2):c.226-11dupT http://identifiers.org/clinvar/198041 ^@ NM_000093.4(COL5A1):c.805G>A (p.Glu269Lys) http://identifiers.org/clinvar/198042 ^@ NM_000101.3(CYBA):c.521T>C (p.Val174Ala) http://identifiers.org/clinvar/198043 ^@ NM_000117.2(EMD):c.454C>T (p.Arg152Cys) http://identifiers.org/clinvar/198044 ^@ NM_000142.4(FGFR3):c.678C>T (p.Tyr226=) http://identifiers.org/clinvar/198045 ^@ NM_000143.3(FH):c.892G>C (p.Ala298Pro) http://identifiers.org/clinvar/198046 ^@ NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter) http://identifiers.org/clinvar/198047 ^@ NM_000152.4(GAA):c.1075+4G>A http://identifiers.org/clinvar/198048 ^@ NM_000154.1(GALK1):c.863C>T (p.Thr288Met) http://identifiers.org/clinvar/198049 ^@ NM_000155.3(GALT):c.539G>A (p.Cys180Tyr) http://identifiers.org/clinvar/198050 ^@ NM_000162.3(GCK):c.601G>T (p.Ala201Ser) http://identifiers.org/clinvar/198051 ^@ NM_000163.4(GHR):c.558A>G (p.Gly186=) http://identifiers.org/clinvar/198052 ^@ NM_000169.2(GLA):c.916C>T (p.Gln306Ter) http://identifiers.org/clinvar/198053 ^@ NM_000169.2(GLA):c.982G>C (p.Gly328Arg) http://identifiers.org/clinvar/198054 ^@ NM_000169.2(GLA):c.879_880delTTinsAATC (p.Leu294Ilefs) http://identifiers.org/clinvar/198055 ^@ NM_000180.3(GUCY2D):c.1499C>T (p.Pro500Leu) http://identifiers.org/clinvar/198056 ^@ NM_000180.3(GUCY2D):c.1513C>T (p.Leu505=) http://identifiers.org/clinvar/198057 ^@ NM_000194.2(HPRT1):c.480C>T (p.Val160=) http://identifiers.org/clinvar/198058 ^@ NM_000199.3(SGSH):c.734G>T (p.Arg245Leu) http://identifiers.org/clinvar/198059 ^@ NM_000202.7(IDS):c.832_833insATGTTTAAGGGAAG (p.Ala278Aspfs) http://identifiers.org/clinvar/198060 ^@ NM_000208.3(INSR):c.1284T>C (p.Tyr428=) http://identifiers.org/clinvar/198061 ^@ NM_000232.4(SGCB):c.913A>G (p.Met305Val) http://identifiers.org/clinvar/198062 ^@ NM_000262.2(NAGA):c.598-15C>T http://identifiers.org/clinvar/198063 ^@ NM_000275.2(OCA2):c.593C>T (p.Pro198Leu) http://identifiers.org/clinvar/198064 ^@ NM_000275.2(OCA2):c.632C>T (p.Pro211Leu) http://identifiers.org/clinvar/198066 ^@ NM_000288.3(PEX7):c.576C>T (p.Ile192=) http://identifiers.org/clinvar/198067 ^@ NM_001031835.2(PHKB):c.534G>T (p.Met178Ile) http://identifiers.org/clinvar/198068 ^@ NM_000293.2(PHKB):c.518A>G (p.Asn173Ser) http://identifiers.org/clinvar/198069 ^@ NM_000306.3(POU1F1):c.666-5G>A http://identifiers.org/clinvar/198070 ^@ NM_000388.3(CASR):c.2610G>A (p.Glu870=) http://identifiers.org/clinvar/198071 ^@ NM_001178065.1(CASR):c.2998A>G (p.Arg1000Gly) http://identifiers.org/clinvar/198072 ^@ NM_000388.3(CASR):c.2730C>A (p.Pro910=) http://identifiers.org/clinvar/198073 ^@ NM_000388.3(CASR):c.2901C>A (p.Ile967=) http://identifiers.org/clinvar/198074 ^@ NM_000391.3(TPP1):c.510G>A (p.Val170=) http://identifiers.org/clinvar/198075 ^@ NM_000391.3(TPP1):c.542C>T (p.Ser181Phe) http://identifiers.org/clinvar/198076 ^@ NM_000391.3(TPP1):c.523C>T (p.Arg175Cys) http://identifiers.org/clinvar/198077 ^@ NM_000404.3(GLB1):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/198078 ^@ NM_000409.4(GUCA1A):c.526C>T (p.Leu176Phe) http://identifiers.org/clinvar/198079 ^@ NM_000414.3(HSD17B4):c.317G>A (p.Arg106His) http://identifiers.org/clinvar/198080 ^@ NM_000425.4(L1CAM):c.591T>C (p.Asn197=) http://identifiers.org/clinvar/198081 ^@ NM_000425.4(L1CAM):c.603C>T (p.Ser201=) http://identifiers.org/clinvar/198082 ^@ NM_000443.3(ABCB4):c.504C>T (p.Asn168=) http://identifiers.org/clinvar/198083 ^@ NM_018849.2(ABCB4):c.438C>T (p.Ile146=) http://identifiers.org/clinvar/198084 ^@ NM_000445.4(PLEC):c.459T>G (p.Ala153=) http://identifiers.org/clinvar/198085 ^@ NM_000451.3(SHOX):c.870G>A (p.Leu290=) http://identifiers.org/clinvar/198087 ^@ NM_000512.4(GALNS):c.599C>T (p.Thr200Met) http://identifiers.org/clinvar/198088 ^@ NM_001077488.3(GNAS):c.436-18T>C http://identifiers.org/clinvar/198089 ^@ NM_001128834.2(PLP1):c.718T>C (p.Phe240Leu) http://identifiers.org/clinvar/198090 ^@ NM_000540.2(RYR1):c.526G>A (p.Glu176Lys) http://identifiers.org/clinvar/198091 ^@ NM_000540.2(RYR1):c.514_519delAGTGTC (p.Val173_Ser174del) http://identifiers.org/clinvar/198092 ^@ NM_000543.4(SMPD1):c.1598C>T (p.Pro533Leu) http://identifiers.org/clinvar/198093 ^@ NM_000543.4(SMPD1):c.1829_1831delGCC (p.Arg610del) http://identifiers.org/clinvar/198094 ^@ NM_000543.4(SMPD1):c.1550A>T (p.Glu517Val) http://identifiers.org/clinvar/198095 ^@ NM_000543.4(SMPD1):c.1492C>T (p.Arg498Cys) http://identifiers.org/clinvar/198096 ^@ NM_000546.5(TP53):c.560-9T>A http://identifiers.org/clinvar/198097 ^@ NM_000548.4(TSC2):c.573C>G (p.Leu191=) http://identifiers.org/clinvar/198098 ^@ NM_000548.4(TSC2):c.493C>T (p.Leu165=) http://identifiers.org/clinvar/198099 ^@ NM_000553.4(WRN):c.561A>G (p.Lys187=) http://identifiers.org/clinvar/198100 ^@ NM_000660.6(TGFB1):c.918C>T (p.Leu306=) http://identifiers.org/clinvar/198102 ^@ NM_000742.3(CHRNA2):c.990G>A (p.Glu330=) http://identifiers.org/clinvar/198103 ^@ NM_000795.3(DRD2):c.731G>C (p.Cys244Ser) http://identifiers.org/clinvar/198104 ^@ NM_000823.3(GHRHR):c.489C>T (p.Tyr163=) http://identifiers.org/clinvar/198105 ^@ NM_000843.3(GRM6):c.1308T>C (p.Thr436=) http://identifiers.org/clinvar/198106 ^@ NM_000843.3(GRM6):c.1307_1308delCTinsTC (p.Thr436Ile) http://identifiers.org/clinvar/198107 ^@ NM_000843.3(GRM6):c.1307C>T (p.Thr436Ile) http://identifiers.org/clinvar/198108 ^@ NM_000875.4(IGF1R):c.1310G>A (p.Arg437His) http://identifiers.org/clinvar/198109 ^@ NM_001003722.1(GLE1):c.727A>G (p.Ile243Val) http://identifiers.org/clinvar/198110 ^@ NM_001005741.2(GBA):c.485T>C (p.Met162Thr) http://identifiers.org/clinvar/198111 ^@ NM_001012331.1(NTRK1):c.710C>T (p.Thr237Met) http://identifiers.org/clinvar/198112 ^@ NM_001017420.2(ESCO2):c.1031A>C (p.Gln344Pro) http://identifiers.org/clinvar/198113 ^@ NM_201548.4(CERKL):c.820+9G>A http://identifiers.org/clinvar/198114 ^@ NM_001034850.2(RETREG1):c.750G>T (p.Leu250=) http://identifiers.org/clinvar/198115 ^@ NM_000402.4(G6PD):c.576-14C>T http://identifiers.org/clinvar/198116 ^@ NM_001044385.2(TMEM237):c.348G>A (p.Ala116=) http://identifiers.org/clinvar/198120 ^@ NM_001101426.3(ISPD):c.836-9dupT http://identifiers.org/clinvar/198121 ^@ NM_001111035.2(ACP5):c.543C>A (p.Ala181=) http://identifiers.org/clinvar/198122 ^@ NM_001130438.2(SPTAN1):c.761C>A (p.Ala254Glu) http://identifiers.org/clinvar/198123 ^@ NM_001134363.2(RBM20):c.1602C>T (p.Asp534=) http://identifiers.org/clinvar/198124 ^@ NM_001143979.1(NDE1):c.513T>C (p.Asp171=) http://identifiers.org/clinvar/198125 ^@ NM_006920.4(SCN1A):c.854C>T (p.Ala285Val) http://identifiers.org/clinvar/198126 ^@ NM_006920.4(SCN1A):c.830delG (p.Cys277Leufs) http://identifiers.org/clinvar/198127 ^@ NM_001182.4(ALDH7A1):c.577G>A (p.Ala193Thr) http://identifiers.org/clinvar/198129 ^@ NM_001184880.1(PCDH19):c.3400A>C (p.Asn1134His) http://identifiers.org/clinvar/198130 ^@ NM_001298.2(CNGA3):c.508C>T (p.Arg170Cys) http://identifiers.org/clinvar/198131 ^@ NM_001360.2(DHCR7):c.582C>T (p.Phe194=) http://identifiers.org/clinvar/198132 ^@ NM_001429.3(EP300):c.1283-8T>C http://identifiers.org/clinvar/198133 ^@ NM_001456.3(FLNA):c.901C>T (p.Arg301Trp) http://identifiers.org/clinvar/198134 ^@ NM_001482.2(GATM):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/198135 ^@ NM_001482.2(GATM):c.869G>C (p.Arg290Thr) http://identifiers.org/clinvar/198136 ^@ NM_001849.3(COL6A2):c.812G>A (p.Gly271Asp) http://identifiers.org/clinvar/198137 ^@ NM_001852.3(COL9A2):c.312C>T (p.Pro104=) http://identifiers.org/clinvar/198138 ^@ NM_001853.3(COL9A3):c.333G>A (p.Pro111=) http://identifiers.org/clinvar/198139 ^@ NM_001853.3(COL9A3):c.325C>T (p.Pro109Ser) http://identifiers.org/clinvar/198140 ^@ NM_001927.3(DES):c.1167G>T (p.Gln389His) http://identifiers.org/clinvar/198141 ^@ NM_002024.5(FMR1):c.420-10A>T http://identifiers.org/clinvar/198143 ^@ NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) http://identifiers.org/clinvar/198144 ^@ NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys) http://identifiers.org/clinvar/198145 ^@ NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) http://identifiers.org/clinvar/198146 ^@ NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) http://identifiers.org/clinvar/198147 ^@ NM_002206.2(ITGA7):c.892C>T (p.Arg298Cys) http://identifiers.org/clinvar/198148 ^@ NM_002381.4(MATN3):c.1169-10G>A http://identifiers.org/clinvar/198149 ^@ NM_002420.5(TRPM1):c.680G>A (p.Arg227Gln) http://identifiers.org/clinvar/198150 ^@ NM_002641.3(PIGA):c.1202T>A (p.Val401Glu) http://identifiers.org/clinvar/198151 ^@ NM_002693.2(POLG):c.1174C>G (p.Leu392Val) http://identifiers.org/clinvar/198152 ^@ NM_002977.3(SCN9A):c.688+9T>C http://identifiers.org/clinvar/198153 ^@ NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) http://identifiers.org/clinvar/198154 ^@ NM_003001.3(SDHC):c.420A>G (p.Gly140=) http://identifiers.org/clinvar/198155 ^@ NM_003036.3(SKI):c.1890C>T (p.Ala630=) http://identifiers.org/clinvar/198156 ^@ NM_003036.3(SKI):c.1851G>A (p.Glu617=) http://identifiers.org/clinvar/198157 ^@ NM_003165.3(STXBP1):c.364C>T (p.Arg122Ter) http://identifiers.org/clinvar/198158 ^@ NM_003179.2(SYP):c.687C>T (p.Ala229=) http://identifiers.org/clinvar/198159 ^@ NM_001135599.3(TGFB2):c.1017-8_1017-6delTTT http://identifiers.org/clinvar/198162 ^@ NM_003919.2(SGCE):c.771_772delAT (p.Cys258Terfs) http://identifiers.org/clinvar/198163 ^@ NM_004006.2(DMD):c.415_428delATTCTCCTGAGCTG (p.Ile139Glyfs) http://identifiers.org/clinvar/198164 ^@ NM_004287.4(GOSR2):c.478-4C>G http://identifiers.org/clinvar/198165 ^@ NM_004369.3(COL6A3):c.1948G>A (p.Val650Ile) http://identifiers.org/clinvar/198166 ^@ NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) http://identifiers.org/clinvar/198167 ^@ NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) http://identifiers.org/clinvar/198168 ^@ NM_004369.3(COL6A3):c.2444C>A (p.Pro815His) http://identifiers.org/clinvar/198169 ^@ NM_004380.2(CREBBP):c.1331-12_1331-9delTTGT http://identifiers.org/clinvar/198170 ^@ NM_004385.4(VCAN):c.899C>T (p.Ser300Leu) http://identifiers.org/clinvar/198171 ^@ NM_004407.3(DMP1):c.879T>C (p.Ser293=) http://identifiers.org/clinvar/198172 ^@ NM_004456.4(EZH2):c.485-7G>A http://identifiers.org/clinvar/198173 ^@ NM_004484.3(GPC3):c.1398G>A (p.Leu466=) http://identifiers.org/clinvar/198174 ^@ NM_004530.5(MMP2):c.932C>T (p.Thr311Met) http://identifiers.org/clinvar/198175 ^@ NM_004560.3(ROR2):c.937+10C>T http://identifiers.org/clinvar/198176 ^@ NM_004560.3(ROR2):c.730C>T (p.Arg244Trp) http://identifiers.org/clinvar/198177 ^@ NM_004595.4(SMS):c.569C>T (p.Thr190Ile) http://identifiers.org/clinvar/198178 ^@ NM_004817.3(TJP2):c.1027A>G (p.Asn343Asp) http://identifiers.org/clinvar/198179 ^@ NM_004994.2(MMP9):c.886G>A (p.Gly296Ser) http://identifiers.org/clinvar/198180 ^@ NM_005055.4(RAPSN):c.957G>C (p.Val319=) http://identifiers.org/clinvar/198181 ^@ NM_001077482.2(NR1I3):c.657C>T (p.Cys219=) http://identifiers.org/clinvar/198182 ^@ NM_005199.4(CHRNG):c.507-13C>T http://identifiers.org/clinvar/198183 ^@ NM_005477.2(HCN4):c.1915G>A (p.Val639Met) http://identifiers.org/clinvar/198184 ^@ NM_005708.4(GPC6):c.1152+9T>A http://identifiers.org/clinvar/198185 ^@ NM_005709.3(USH1C):c.513C>T (p.Pro171=) http://identifiers.org/clinvar/198186 ^@ NM_005881.3(BCKDK):c.488A>G (p.Lys163Arg) http://identifiers.org/clinvar/198187 ^@ NM_005902.3(SMAD3):c.802C>T (p.Arg268Cys) http://identifiers.org/clinvar/198188 ^@ NM_005908.3(MANBA):c.708G>A (p.Glu236=) http://identifiers.org/clinvar/198189 ^@ NM_005996.3(TBX3):c.1173G>C (p.Ala391=) http://identifiers.org/clinvar/198190 ^@ NM_006005.3(WFS1):c.683G>A (p.Arg228His) http://identifiers.org/clinvar/198191 ^@ NM_006204.3(PDE6C):c.991A>G (p.Ile331Val) http://identifiers.org/clinvar/198192 ^@ NM_006214.3(PHYH):c.678+5G>T http://identifiers.org/clinvar/198193 ^@ NM_174963.3(ST3GAL3):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/198194 ^@ NM_174963.3(ST3GAL3):c.510G>T (p.Arg170=) http://identifiers.org/clinvar/198195 ^@ NM_006516.2(SLC2A1):c.790C>T (p.Arg264Cys) http://identifiers.org/clinvar/198196 ^@ NM_006517.4(SLC16A2):c.1468G>A (p.Gly490Arg) http://identifiers.org/clinvar/198197 ^@ NM_006657.2(FTCD):c.677T>C (p.Leu226Pro) http://identifiers.org/clinvar/198198 ^@ NM_007254.3(PNKP):c.625G>A (p.Glu209Lys) http://identifiers.org/clinvar/198199 ^@ NM_007254.3(PNKP):c.602G>A (p.Arg201His) http://identifiers.org/clinvar/198200 ^@ NM_007294.3(BRCA1):c.439T>C (p.Leu147=) http://identifiers.org/clinvar/198201 ^@ NM_013416.3(NCF4):c.528+16A>G http://identifiers.org/clinvar/198202 ^@ NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) http://identifiers.org/clinvar/198203 ^@ NM_014140.3(SMARCAL1):c.1128G>A (p.Leu376=) http://identifiers.org/clinvar/198204 ^@ NM_014141.5(CNTNAP2):c.847C>T (p.Arg283Cys) http://identifiers.org/clinvar/198205 ^@ NM_014244.4(ADAMTS2):c.1122C>T (p.Ser374=) http://identifiers.org/clinvar/198206 ^@ NM_014254.2(TMEM5):c.*18C>G http://identifiers.org/clinvar/198207 ^@ NM_014336.4(AIPL1):c.864G>C (p.Gln288His) http://identifiers.org/clinvar/198208 ^@ NM_014336.4(AIPL1):c.971G>T (p.Arg324Leu) http://identifiers.org/clinvar/198211 ^@ NM_014564.4(LHX3):c.944G>C (p.Arg315Pro) http://identifiers.org/clinvar/198212 ^@ NM_014780.4(CUL7):c.1542G>T (p.Gln514His) http://identifiers.org/clinvar/198213 ^@ NM_014956.4(CEP164):c.457C>T (p.Leu153Phe) http://identifiers.org/clinvar/198214 ^@ NM_014989.5(RIMS1):c.1533G>A (p.Pro511=) http://identifiers.org/clinvar/198215 ^@ NM_015141.3(GPD1L):c.787C>T (p.Leu263=) http://identifiers.org/clinvar/198216 ^@ NM_001005207.3(TRIM37):c.398C>T (p.Ala133Val) http://identifiers.org/clinvar/198217 ^@ NM_015311.2(OBSL1):c.2283G>A (p.Leu761=) http://identifiers.org/clinvar/198218 ^@ NM_015311.2(OBSL1):c.2238G>A (p.Pro746=) http://identifiers.org/clinvar/198219 ^@ NM_015560.2(OPA1):c.635_636delAA (p.Lys212Argfs) http://identifiers.org/clinvar/198220 ^@ NM_015629.3(PRPF31):c.527+9G>T http://identifiers.org/clinvar/198221 ^@ NM_015702.2(MMADHC):c.600C>T (p.Leu200=) http://identifiers.org/clinvar/198222 ^@ NM_017739.3(POMGNT1):c.421-7C>A http://identifiers.org/clinvar/198223 ^@ NM_017780.3(CHD7):c.2436A>T (p.Lys812Asn) http://identifiers.org/clinvar/198225 ^@ NM_017929.5(PEX26):c.815-10T>G http://identifiers.org/clinvar/198226 ^@ NM_018136.4(ASPM):c.2254T>G (p.Ser752Ala) http://identifiers.org/clinvar/198227 ^@ NM_018136.4(ASPM):c.2365A>G (p.Ile789Val) http://identifiers.org/clinvar/198228 ^@ NM_018328.4(MBD5):c.69G>A (p.Val23=) http://identifiers.org/clinvar/198229 ^@ NM_018328.4(MBD5):c.8G>T (p.Gly3Val) http://identifiers.org/clinvar/198230 ^@ NM_018344.5(SLC29A3):c.1146C>T (p.Phe382=) http://identifiers.org/clinvar/198231 ^@ NM_018418.4(SPATA7):c.815G>A (p.Arg272Gln) http://identifiers.org/clinvar/198232 ^@ NM_018451.4(CENPJ):c.1054G>C (p.Glu352Gln) http://identifiers.org/clinvar/198233 ^@ NM_018699.3(PRDM5):c.705G>C (p.Gln235His) http://identifiers.org/clinvar/198234 ^@ NM_018977.3(NLGN3):c.1116G>A (p.Glu372=) http://identifiers.org/clinvar/198235 ^@ NM_019109.4(ALG1):c.723C>T (p.His241=) http://identifiers.org/clinvar/198236 ^@ NM_020184.3(CNNM4):c.2130+5G>A http://identifiers.org/clinvar/198237 ^@ NM_020451.2(SELENON):c.846C>T (p.Ser282=) http://identifiers.org/clinvar/198238 ^@ NM_020451.2(SELENON):c.872+2T>C http://identifiers.org/clinvar/198239 ^@ NM_020549.4(CHAT):c.867G>A (p.Thr289=) http://identifiers.org/clinvar/198240 ^@ NM_020717.3(SHROOM4):c.3390A>G (p.Gln1130=) http://identifiers.org/clinvar/198244 ^@ NM_181332.2(NLGN4X):c.1748G>A (p.Arg583Gln) http://identifiers.org/clinvar/198245 ^@ NM_181332.2(NLGN4X):c.1674C>T (p.Ala558=) http://identifiers.org/clinvar/198246 ^@ NM_021625.4(TRPV4):c.854-4G>A http://identifiers.org/clinvar/198247 ^@ NM_021734.4(SLC25A19):c.590G>T (p.Ser197Ile) http://identifiers.org/clinvar/198248 ^@ NM_021734.4(SLC25A19):c.483C>T (p.Ala161=) http://identifiers.org/clinvar/198249 ^@ NM_021734.4(SLC25A19):c.565G>A (p.Ala189Thr) http://identifiers.org/clinvar/198250 ^@ NM_022132.4(MCCC2):c.557_560delCAGAinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) http://identifiers.org/clinvar/198251 ^@ NM_022132.4(MCCC2):c.518C>G (p.Ser173Trp) http://identifiers.org/clinvar/198252 ^@ NM_022132.4(MCCC2):c.568C>T (p.His190Tyr) http://identifiers.org/clinvar/198253 ^@ NM_022458.3(LMBR1):c.453G>T (p.Leu151Phe) http://identifiers.org/clinvar/198254 ^@ NM_001037633.1(SIL1):c.460C>T (p.Gln154Ter) http://identifiers.org/clinvar/198255 ^@ NM_024596.4(MCPH1):c.445G>A (p.Val149Ile) http://identifiers.org/clinvar/198256 ^@ NM_001145809.1(MYH14):c.752C>A (p.Pro251His) http://identifiers.org/clinvar/198257 ^@ NM_024753.4(TTC21B):c.691A>T (p.Thr231Ser) http://identifiers.org/clinvar/198258 ^@ NM_024757.4(EHMT1):c.1130C>T (p.Thr377Ile) http://identifiers.org/clinvar/198259 ^@ NM_024757.4(EHMT1):c.1159C>T (p.Arg387Cys) http://identifiers.org/clinvar/198260 ^@ NM_024757.4(EHMT1):c.1008C>A (p.Ser336Arg) http://identifiers.org/clinvar/198261 ^@ NM_024809.4(TCTN2):c.720C>G (p.Pro240=) http://identifiers.org/clinvar/198262 ^@ NM_024809.4(TCTN2):c.615C>T (p.Gly205=) http://identifiers.org/clinvar/198263 ^@ NM_025009.4(CEP135):c.638T>C (p.Val213Ala) http://identifiers.org/clinvar/198264 ^@ NM_025114.3(CEP290):c.343A>G (p.Asn115Asp) http://identifiers.org/clinvar/198265 ^@ NM_025114.3(CEP290):c.341G>A (p.Arg114His) http://identifiers.org/clinvar/198266 ^@ NM_025193.3(HSD3B7):c.637G>A (p.Gly213Arg) http://identifiers.org/clinvar/198267 ^@ NM_025243.3(SLC19A3):c.*8G>A http://identifiers.org/clinvar/198268 ^@ NM_025265.3(TSEN2):c.870A>G (p.Pro290=) http://identifiers.org/clinvar/198269 ^@ NM_030662.3(MAP2K2):c.648C>T (p.Ser216=) http://identifiers.org/clinvar/198270 ^@ NM_031220.3(PITPNM3):c.507C>A (p.Phe169Leu) http://identifiers.org/clinvar/198271 ^@ NM_015645.4(C1QTNF5):c.-1867G>A http://identifiers.org/clinvar/198272 ^@ NM_178443.2(FERMT3):c.708C>T (p.Leu236=) http://identifiers.org/clinvar/198273 ^@ NM_032578.3(MYPN):c.1293C>A (p.Ile431=) http://identifiers.org/clinvar/198274 ^@ NM_032682.5(FOXP1):c.64G>A (p.Gly22Ser) http://identifiers.org/clinvar/198275 ^@ NM_052845.3(MMAB):c.519+10G>A http://identifiers.org/clinvar/198276 ^@ NM_001177317.1(SLC34A3):c.449-3C>T http://identifiers.org/clinvar/198277 ^@ NM_138694.3(PKHD1):c.400G>A (p.Ala134Thr) http://identifiers.org/clinvar/198278 ^@ NM_144612.6(LOXHD1):c.722A>G (p.Asn241Ser) http://identifiers.org/clinvar/198279 ^@ NM_001128225.2(SLC39A13):c.646-7T>C http://identifiers.org/clinvar/198280 ^@ NM_153240.4(NPHP3):c.1037A>C (p.Glu346Ala) http://identifiers.org/clinvar/198281 ^@ NM_153717.2(EVC):c.769C>T (p.Leu257=) http://identifiers.org/clinvar/198282 ^@ NM_153717.2(EVC):c.772T>C (p.Tyr258His) http://identifiers.org/clinvar/198283 ^@ NM_153717.2(EVC):c.780G>A (p.Lys260=) http://identifiers.org/clinvar/198284 ^@ NM_172107.3(KCNQ2):c.841G>A (p.Gly281Arg) http://identifiers.org/clinvar/198285 ^@ NM_175073.2(APTX):c.484-25_484-5del21 http://identifiers.org/clinvar/198286 ^@ NM_175073.2(APTX):c.484-25_484-10del16 http://identifiers.org/clinvar/198287 ^@ NM_194248.2(OTOF):c.578G>T (p.Arg193Ile) http://identifiers.org/clinvar/198288 ^@ NM_198270.3(NHS):c.1533G>A (p.Glu511=) http://identifiers.org/clinvar/198289 ^@ NM_198270.3(NHS):c.3311C>T (p.Ser1104Leu) http://identifiers.org/clinvar/198290 ^@ NM_198270.3(NHS):c.2171C>T (p.Ala724Val) http://identifiers.org/clinvar/198291 ^@ NM_198270.3(NHS):c.1264G>A (p.Gly422Arg) http://identifiers.org/clinvar/198292 ^@ NM_198270.3(NHS):c.1540G>A (p.Val514Met) http://identifiers.org/clinvar/198293 ^@ NM_198270.3(NHS):c.3345G>A (p.Thr1115=) http://identifiers.org/clinvar/198294 ^@ NM_198270.3(NHS):c.3247C>T (p.His1083Tyr) http://identifiers.org/clinvar/198295 ^@ NM_203288.1(RP9):c.664delT (p.Ter222Aspfs) http://identifiers.org/clinvar/198296 ^@ NM_203447.3(DOCK8):c.685G>C (p.Ala229Pro) http://identifiers.org/clinvar/198298 ^@ NM_207361.5(FREM2):c.5858A>G (p.Asp1953Gly) http://identifiers.org/clinvar/198299 ^@ NM_213599.2(ANO5):c.295-8dupT http://identifiers.org/clinvar/198300 ^@ NM_000426.3(LAMA2):c.8497G>T (p.Asp2833Tyr) http://identifiers.org/clinvar/198301 ^@ NM_001854.3(COL11A1):c.4468A>G (p.Ile1490Val) http://identifiers.org/clinvar/198302 ^@ NM_004006.2(DMD):c.9032C>T (p.Pro3011Leu) http://identifiers.org/clinvar/198303 ^@ NM_017890.4(VPS13B):c.11513A>G (p.His3838Arg) http://identifiers.org/clinvar/198304 ^@ NM_032119.3(ADGRV1):c.12349C>T (p.Arg4117Cys) http://identifiers.org/clinvar/198305 ^@ NM_001267550.2(TTN):c.18388A>T (p.Thr6130Ser) http://identifiers.org/clinvar/198306 ^@ NM_138694.3(PKHD1):c.10036T>C (p.Cys3346Arg) http://identifiers.org/clinvar/198307 ^@ NM_206933.2(USH2A):c.11549-5dupT http://identifiers.org/clinvar/198308 ^@ NM_001271208.1(NEB):c.8644G>A (p.Asp2882Asn) http://identifiers.org/clinvar/198309 ^@ NM_017890.4(VPS13B):c.11785C>G (p.Gln3929Glu) http://identifiers.org/clinvar/198310 ^@ NM_025074.6(FRAS1):c.9123C>T (p.Thr3041=) http://identifiers.org/clinvar/198311 ^@ NM_031407.6(HUWE1):c.8238_8240delAAC (p.Thr2747del) http://identifiers.org/clinvar/198312 ^@ NM_001267550.2(TTN):c.18668C>T (p.Thr6223Met) http://identifiers.org/clinvar/198313 ^@ NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) http://identifiers.org/clinvar/198314 ^@ NM_138694.3(PKHD1):c.10219C>T (p.Gln3407Ter) http://identifiers.org/clinvar/198315 ^@ NM_138694.3(PKHD1):c.10744G>A (p.Glu3582Lys) http://identifiers.org/clinvar/198316 ^@ NM_138694.3(PKHD1):c.11130C>T (p.Ile3710=) http://identifiers.org/clinvar/198317 ^@ NM_138694.3(PKHD1):c.10664T>A (p.Ile3555Lys) http://identifiers.org/clinvar/198318 ^@ NM_206933.2(USH2A):c.11875_11876delCA (p.Gln3959Asnfs) http://identifiers.org/clinvar/198319 ^@ NM_004006.2(DMD):c.9198G>A (p.Ser3066=) http://identifiers.org/clinvar/198320 ^@ NM_004006.2(DMD):c.9216C>G (p.Tyr3072Ter) http://identifiers.org/clinvar/198321 ^@ NM_001271208.1(NEB):c.8719G>A (p.Gly2907Ser) http://identifiers.org/clinvar/198323 ^@ NM_025074.6(FRAS1):c.9375T>A (p.His3125Gln) http://identifiers.org/clinvar/198324 ^@ NM_025074.6(FRAS1):c.9364C>T (p.Arg3122Trp) http://identifiers.org/clinvar/198325 ^@ NM_032119.3(ADGRV1):c.12545G>T (p.Gly4182Val) http://identifiers.org/clinvar/198326 ^@ NM_033071.3(SYNE1):c.9974G>A (p.Ser3325Asn) http://identifiers.org/clinvar/198327 ^@ NM_000426.3(LAMA2):c.8982T>C (p.Asp2994=) http://identifiers.org/clinvar/198328 ^@ NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) http://identifiers.org/clinvar/198329 ^@ NM_000540.2(RYR1):c.9414G>A (p.Pro3138=) http://identifiers.org/clinvar/198330 ^@ NM_001080463.1(DYNC2H1):c.9737C>T (p.Thr3246Ile) http://identifiers.org/clinvar/198331 ^@ NM_001080463.1(DYNC2H1):c.9749A>G (p.Gln3250Arg) http://identifiers.org/clinvar/198332 ^@ NM_004006.2(DMD):c.9286+6G>C http://identifiers.org/clinvar/198333 ^@ NM_005529.6(HSPG2):c.8288G>A (p.Arg2763His) http://identifiers.org/clinvar/198334 ^@ NM_025074.6(FRAS1):c.9553G>A (p.Gly3185Arg) http://identifiers.org/clinvar/198335 ^@ NM_033071.3(SYNE1):c.10058C>A (p.Ser3353Tyr) http://identifiers.org/clinvar/198336 ^@ NM_033071.3(SYNE1):c.10077T>C (p.Ser3359=) http://identifiers.org/clinvar/198337 ^@ NM_080680.2(COL11A2):c.4652G>A (p.Arg1551Gln) http://identifiers.org/clinvar/198338 ^@ NM_001267550.2(TTN):c.19310delA (p.Asn6437Ilefs) http://identifiers.org/clinvar/198339 ^@ NM_182914.2(SYNE2):c.12378C>T (p.Ser4126=) http://identifiers.org/clinvar/198340 ^@ NM_206933.2(USH2A):c.13078A>G (p.Ser4360Gly) http://identifiers.org/clinvar/198341 ^@ NM_206933.2(USH2A):c.13478G>A (p.Arg4493His) http://identifiers.org/clinvar/198342 ^@ NM_206933.2(USH2A):c.13250A>G (p.Tyr4417Cys) http://identifiers.org/clinvar/198343 ^@ NM_206933.2(USH2A):c.12997C>G (p.Leu4333Val) http://identifiers.org/clinvar/198344 ^@ NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile) http://identifiers.org/clinvar/198345 ^@ NM_000138.4(FBN1):c.7964C>T (p.Ala2655Val) http://identifiers.org/clinvar/198347 ^@ NM_001277115.1(DNAH11):c.10472G>A (p.Arg3491His) http://identifiers.org/clinvar/198348 ^@ NM_025074.6(FRAS1):c.9806G>A (p.Arg3269Gln) http://identifiers.org/clinvar/198349 ^@ NM_033071.3(SYNE1):c.10281G>A (p.Ala3427=) http://identifiers.org/clinvar/198350 ^@ NM_001267550.2(TTN):c.19592G>T (p.Cys6531Phe) http://identifiers.org/clinvar/198351 ^@ NM_000540.2(RYR1):c.9685+16C>T http://identifiers.org/clinvar/198352 ^@ NM_001376.4(DYNC1H1):c.11942C>G (p.Thr3981Arg) http://identifiers.org/clinvar/198353 ^@ NM_005045.3(RELN):c.10349A>G (p.Asn3450Ser) http://identifiers.org/clinvar/198354 ^@ NM_005045.3(RELN):c.10310T>C (p.Met3437Thr) http://identifiers.org/clinvar/198355 ^@ NM_025074.6(FRAS1):c.10128C>T (p.His3376=) http://identifiers.org/clinvar/198356 ^@ NM_080680.2(COL11A2):c.4959C>T (p.Tyr1653=) http://identifiers.org/clinvar/198357 ^@ NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) http://identifiers.org/clinvar/198358 ^@ NM_182914.2(SYNE2):c.12567G>A (p.Glu4189=) http://identifiers.org/clinvar/198359 ^@ NM_001369.2(DNAH5):c.11234A>G (p.His3745Arg) http://identifiers.org/clinvar/198360 ^@ NM_001854.3(COL11A1):c.5198G>A (p.Arg1733His) http://identifiers.org/clinvar/198361 ^@ NM_004006.2(DMD):c.9564-5A>G http://identifiers.org/clinvar/198362 ^@ NM_001271208.1(NEB):c.10092C>T (p.Pro3364=) http://identifiers.org/clinvar/198363 ^@ NM_033071.3(SYNE1):c.10496G>A (p.Arg3499His) http://identifiers.org/clinvar/198364 ^@ NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) http://identifiers.org/clinvar/198365 ^@ NM_206933.2(USH2A):c.14502_14503delTC (p.Pro4835Thrfs) http://identifiers.org/clinvar/198366 ^@ NM_206933.2(USH2A):c.14419G>A (p.Ala4807Thr) http://identifiers.org/clinvar/198367 ^@ NM_001271208.1(NEB):c.10201T>A (p.Ser3401Thr) http://identifiers.org/clinvar/198368 ^@ NM_138694.3(PKHD1):c.12027C>G (p.Tyr4009Ter) http://identifiers.org/clinvar/198369 ^@ NM_001271208.1(NEB):c.10452+9A>G http://identifiers.org/clinvar/198370 ^@ NM_022124.5(CDH23):c.9524G>A (p.Arg3175His) http://identifiers.org/clinvar/198371 ^@ NM_033071.3(SYNE1):c.10985G>A (p.Cys3662Tyr) http://identifiers.org/clinvar/198372 ^@ NM_001035.2(RYR2):c.10059C>A (p.Leu3353=) http://identifiers.org/clinvar/198373 ^@ NM_001080463.1(DYNC2H1):c.10432A>G (p.Ile3478Val) http://identifiers.org/clinvar/198374 ^@ NM_004006.2(DMD):c.9978C>G (p.Tyr3326Ter) http://identifiers.org/clinvar/198375 ^@ NM_001271208.1(NEB):c.10463G>A (p.Arg3488His) http://identifiers.org/clinvar/198376 ^@ NM_005529.6(HSPG2):c.9079G>A (p.Asp3027Asn) http://identifiers.org/clinvar/198377 ^@ NM_032119.3(ADGRV1):c.14005T>C (p.Phe4669Leu) http://identifiers.org/clinvar/198378 ^@ NM_033071.3(SYNE1):c.11142G>T (p.Lys3714Asn) http://identifiers.org/clinvar/198379 ^@ NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) http://identifiers.org/clinvar/198380 ^@ NM_000016.5(ACADM):c.469G>A (p.Ala157Thr) http://identifiers.org/clinvar/198381 ^@ NM_000019.3(ACAT1):c.623G>A (p.Arg208Gln) http://identifiers.org/clinvar/198382 ^@ NM_000023.3(SGCA):c.789C>A (p.Thr263=) http://identifiers.org/clinvar/198383 ^@ NM_000023.3(SGCA):c.748-3C>T http://identifiers.org/clinvar/198384 ^@ NM_000048.3(ASL):c.467C>T (p.Pro156Leu) http://identifiers.org/clinvar/198385 ^@ NM_000048.3(ASL):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/198386 ^@ NM_000050.4(ASS1):c.421-2A>G http://identifiers.org/clinvar/198387 ^@ NM_000067.2(CA2):c.677G>A (p.Arg226His) http://identifiers.org/clinvar/198388 ^@ NM_000071.2(CBS):c.536_553del18 (p.Asp179_Leu184del) http://identifiers.org/clinvar/198389 ^@ NM_001039523.2(CHRNA1):c.1023C>A (p.Ile341=) http://identifiers.org/clinvar/198390 ^@ NM_000087.3(CNGA1):c.312A>G (p.Glu104=) http://identifiers.org/clinvar/198391 ^@ NM_000143.3(FH):c.912_918delTTTTGTC (p.Phe305Leufs) http://identifiers.org/clinvar/198392 ^@ NM_000152.4(GAA):c.1147A>G (p.Ile383Val) http://identifiers.org/clinvar/198393 ^@ NM_000152.4(GAA):c.1194+3G>C http://identifiers.org/clinvar/198394 ^@ NM_000155.3(GALT):c.572C>T (p.Ala191Val) http://identifiers.org/clinvar/198395 ^@ NM_000155.3(GALT):c.611G>A (p.Arg204Gln) http://identifiers.org/clinvar/198396 ^@ NM_000159.3(GCDH):c.572T>C (p.Met191Thr) http://identifiers.org/clinvar/198397 ^@ NM_000162.3(GCK):c.688T>C (p.Cys230Arg) http://identifiers.org/clinvar/198398 ^@ NM_000163.4(GHR):c.718T>C (p.Tyr240His) http://identifiers.org/clinvar/198399 ^@ NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) http://identifiers.org/clinvar/198400 ^@ NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) http://identifiers.org/clinvar/198401 ^@ NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) http://identifiers.org/clinvar/198402 ^@ NM_000169.2(GLA):c.1235_1236delCT (p.Thr412Serfs) http://identifiers.org/clinvar/198404 ^@ NM_000199.3(SGSH):c.841G>T (p.Gly281Cys) http://identifiers.org/clinvar/198405 ^@ NM_000202.7(IDS):c.925A>G (p.Thr309Ala) http://identifiers.org/clinvar/198406 ^@ NM_000203.4(IDUA):c.972+1G>A http://identifiers.org/clinvar/198407 ^@ NM_000231.2(SGCG):c.636A>G (p.Gln212=) http://identifiers.org/clinvar/198408 ^@ NM_000235.3(LIPA):c.756A>C (p.Ile252=) http://identifiers.org/clinvar/198409 ^@ NM_000255.3(MUT):c.1360G>A (p.Gly454Arg) http://identifiers.org/clinvar/198410 ^@ NM_000272.3(NPHP1):c.644_646dupAAG (p.Glu215_Gly216insGlu) http://identifiers.org/clinvar/198411 ^@ NM_000275.2(OCA2):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/211934 ^@ NM_018082.5(POLR3B):c.3173A>G (p.Tyr1058Cys) http://identifiers.org/clinvar/212385 ^@ NM_001082538.2(TCTN1):c.702_704delTAA (p.Asn235del) http://identifiers.org/clinvar/212386 ^@ NM_001082538.2(TCTN1):c.843+1del http://identifiers.org/clinvar/210509 ^@ NM_002973.3(ATXN2):c.3000A>G (p.Val1000=) http://identifiers.org/clinvar/210508 ^@ NM_002973.3(ATXN2):c.1420G>A (p.Val474Ile) http://identifiers.org/clinvar/212387 ^@ NM_024809.4(TCTN2):c.134dupT (p.Val46Glyfs) http://identifiers.org/clinvar/212388 ^@ NM_024809.4(TCTN2):c.668C>T (p.Thr223Met) http://identifiers.org/clinvar/212389 ^@ NM_024809.4(TCTN2):c.703delC (p.Leu235Cysfs) http://identifiers.org/clinvar/210384 ^@ NM_012463.3(ATP6V0A2):c.2238C>T (p.Cys746=) http://identifiers.org/clinvar/211124 ^@ NM_000834.3(GRIN2B):c.4309G>A (p.Ala1437Thr) http://identifiers.org/clinvar/211123 ^@ NM_000834.3(GRIN2B):c.4077C>T (p.Ala1359=) http://identifiers.org/clinvar/211121 ^@ NM_000834.3(GRIN2B):c.1851C>T (p.Ser617=) http://identifiers.org/clinvar/211120 ^@ NM_000834.3(GRIN2B):c.1479C>G (p.Thr493=) http://identifiers.org/clinvar/211122 ^@ NM_000834.3(GRIN2B):c.248C>T (p.Thr83Ile) http://identifiers.org/clinvar/210737 ^@ NM_001843.3(CNTN1):c.207C>T (p.Ala69=) http://identifiers.org/clinvar/210738 ^@ NM_001843.3(CNTN1):c.271T>C (p.Tyr91His) http://identifiers.org/clinvar/210739 ^@ NM_001843.3(CNTN1):c.2823+6_2823+7del http://identifiers.org/clinvar/211319 ^@ NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter) http://identifiers.org/clinvar/211317 ^@ NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter) http://identifiers.org/clinvar/211316 ^@ NM_003482.3(KMT2D):c.11641A>G (p.Met3881Val) http://identifiers.org/clinvar/211335 ^@ NM_003482.3(KMT2D):c.9765T>C (p.His3255=) http://identifiers.org/clinvar/211334 ^@ NM_003482.3(KMT2D):c.9540delT (p.Glu3181Argfs) http://identifiers.org/clinvar/211333 ^@ NM_003482.3(KMT2D):c.8445_8475dup31 (p.Ala2826Thrfs) http://identifiers.org/clinvar/211331 ^@ NM_003482.3(KMT2D):c.6172delG (p.Ala2058Profs) http://identifiers.org/clinvar/211330 ^@ NM_003482.3(KMT2D):c.6171dupA (p.Ala2058Serfs) http://identifiers.org/clinvar/211329 ^@ NM_003482.3(KMT2D):c.4981dupG (p.Glu1661Glyfs) http://identifiers.org/clinvar/211328 ^@ NM_003482.3(KMT2D):c.4366T>A (p.Cys1456Ser) http://identifiers.org/clinvar/211327 ^@ NM_003482.3(KMT2D):c.4182C>T (p.Leu1394=) http://identifiers.org/clinvar/211325 ^@ NM_003482.3(KMT2D):c.3591delC (p.Thr1198Leufs) http://identifiers.org/clinvar/211324 ^@ NM_003482.3(KMT2D):c.3585dupA (p.Pro1196Thrfs) http://identifiers.org/clinvar/211322 ^@ NM_003482.3(KMT2D):c.3027G>A (p.Val1009=) http://identifiers.org/clinvar/211321 ^@ NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986Thrfs) http://identifiers.org/clinvar/211320 ^@ NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) http://identifiers.org/clinvar/211318 ^@ NM_003482.3(KMT2D):c.1490C>T (p.Pro497Leu) http://identifiers.org/clinvar/211332 ^@ NM_003482.3(KMT2D):c.836dupG (p.Cys279Trpfs) http://identifiers.org/clinvar/211326 ^@ NM_003482.3(KMT2D):c.400+7_400+8insC http://identifiers.org/clinvar/211323 ^@ NM_003482.3(KMT2D):c.303delG (p.Ser102Alafs) http://identifiers.org/clinvar/212489 ^@ NM_006009.3(TUBA1A):c.1248T>C (p.Gly416=) http://identifiers.org/clinvar/212488 ^@ NM_006009.3(TUBA1A):c.1105G>A (p.Ala369Thr) http://identifiers.org/clinvar/212494 ^@ NM_006009.3(TUBA1A):c.970G>C (p.Val324Leu) http://identifiers.org/clinvar/212493 ^@ NM_006009.3(TUBA1A):c.786T>C (p.Tyr262=) http://identifiers.org/clinvar/212492 ^@ NM_006009.3(TUBA1A):c.273A>G (p.Gln91=) http://identifiers.org/clinvar/212491 ^@ NM_006009.3(TUBA1A):c.269A>G (p.Glu90Gly) http://identifiers.org/clinvar/212490 ^@ NM_006009.3(TUBA1A):c.246C>T (p.Thr82=) http://identifiers.org/clinvar/212135 ^@ NM_014191.3(SCN8A):c.202A>G (p.Ile68Val) http://identifiers.org/clinvar/212134 ^@ NM_014191.3(SCN8A):c.1999-5del http://identifiers.org/clinvar/212136 ^@ NM_014191.3(SCN8A):c.4764C>T (p.Phe1588=) http://identifiers.org/clinvar/211211 ^@ NM_002206.2(ITGA7):c.2701A>G (p.Ile901Val) http://identifiers.org/clinvar/211212 ^@ NM_002206.2(ITGA7):c.791-7C>T http://identifiers.org/clinvar/212329 ^@ NM_000456.2(SUOX):c.1358G>A (p.Gly453Asp) http://identifiers.org/clinvar/212066 ^@ NM_001029.3(RPS26):c.55C>T (p.Gln19Ter) http://identifiers.org/clinvar/210378 ^@ NM_001007026.1(ATN1):c.408C>T (p.Tyr136=) http://identifiers.org/clinvar/210373 ^@ NM_001007026.1(ATN1):c.1461A>G (p.Gln487=) http://identifiers.org/clinvar/210374 ^@ NM_001007026.1(ATN1):c.1469_1476delAGCAGCAG (p.Gln490Profs) http://identifiers.org/clinvar/210375 ^@ NM_001007026.1(ATN1):c.1471_1472insCAGCAG (p.Gln491delinsProAlaGlu) http://identifiers.org/clinvar/210376 ^@ NM_001007026.1(ATN1):c.1472_1476delAGCAG (p.Gln491Profs) http://identifiers.org/clinvar/210377 ^@ NM_001007026.1(ATN1):c.1498_1503dupCAGCAG (p.Gln502_His503insGlnGln) http://identifiers.org/clinvar/210549 ^@ NM_138425.3(C12orf57):c.52+26_52+54del http://identifiers.org/clinvar/210550 ^@ NM_138425.3(C12orf57):c.86C>T (p.Ala29Val) http://identifiers.org/clinvar/210551 ^@ NM_138425.3(C12orf57):c.91G>C (p.Glu31Gln) http://identifiers.org/clinvar/210546 ^@ NM_138425.3(C12orf57):c.136_138delGAC (p.Asp46del) http://identifiers.org/clinvar/210547 ^@ NM_138425.3(C12orf57):c.240G>A (p.Lys80=) http://identifiers.org/clinvar/210548 ^@ NM_138425.3(C12orf57):c.257A>G (p.Lys86Arg) http://identifiers.org/clinvar/210133 ^@ NM_006982.2(ALX1):c.190C>T (p.Arg64Cys) http://identifiers.org/clinvar/210697 ^@ NM_025114.3(CEP290):c.5896A>G (p.Thr1966Ala) http://identifiers.org/clinvar/210696 ^@ NM_025114.3(CEP290):c.4741C>T (p.Leu1581Phe) http://identifiers.org/clinvar/210695 ^@ NM_025114.3(CEP290):c.4215G>A (p.Met1405Ile) http://identifiers.org/clinvar/210694 ^@ NM_025114.3(CEP290):c.3408A>G (p.Gln1136=) http://identifiers.org/clinvar/210693 ^@ NM_025114.3(CEP290):c.2446C>T (p.Arg816Cys) http://identifiers.org/clinvar/210692 ^@ NM_025114.3(CEP290):c.1440A>G (p.Glu480=) http://identifiers.org/clinvar/211898 ^@ NM_004426.2(PHC1):c.486C>T (p.Asn162=) http://identifiers.org/clinvar/211899 ^@ NM_004426.2(PHC1):c.918A>G (p.Arg306=) http://identifiers.org/clinvar/211897 ^@ NM_004426.2(PHC1):c.2626C>T (p.Arg876Trp) http://identifiers.org/clinvar/210954 ^@ NM_000123.3(ERCC5):c.2842T>C (p.Phe948Leu) http://identifiers.org/clinvar/211374 ^@ NM_002312.3(LIG4):c.2016C>G (p.Ser672Arg) http://identifiers.org/clinvar/211373 ^@ NM_002312.3(LIG4):c.1798G>A (p.Glu600Lys) http://identifiers.org/clinvar/211372 ^@ NM_002312.3(LIG4):c.1473C>G (p.Pro491=) http://identifiers.org/clinvar/211377 ^@ NM_002312.3(LIG4):c.864T>C (p.Tyr288=) http://identifiers.org/clinvar/211376 ^@ NM_002312.3(LIG4):c.686A>G (p.His229Arg) http://identifiers.org/clinvar/211375 ^@ NM_002312.3(LIG4):c.513T>C (p.Leu171=) http://identifiers.org/clinvar/211079 ^@ NM_004004.5(GJB2):c.312_327del16 (p.Lys105Argfs) http://identifiers.org/clinvar/212110 ^@ NM_014363.5(SACS):c.13527dupA (p.Glu4510Argfs) http://identifiers.org/clinvar/212109 ^@ NM_014363.5(SACS):c.10982C>T (p.Ala3661Val) http://identifiers.org/clinvar/212108 ^@ NM_014363.5(SACS):c.10906C>T (p.Arg3636Ter) http://identifiers.org/clinvar/212115 ^@ NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) http://identifiers.org/clinvar/212114 ^@ NM_014363.5(SACS):c.4466A>G (p.Asn1489Ser) http://identifiers.org/clinvar/212113 ^@ NM_014363.5(SACS):c.4117_4118delGCinsCT (p.Ala1373Leu) http://identifiers.org/clinvar/212112 ^@ NM_014363.5(SACS):c.3427C>A (p.Gln1143Lys) http://identifiers.org/clinvar/212111 ^@ NM_014363.5(SACS):c.1919_1920delAC (p.His640Profs) http://identifiers.org/clinvar/210668 ^@ NM_018451.4(CENPJ):c.3809T>C (p.Ile1270Thr) http://identifiers.org/clinvar/210667 ^@ NM_018451.4(CENPJ):c.3495_3497dupGAA (p.Lys1165_Asn1166insLys) http://identifiers.org/clinvar/210666 ^@ NM_018451.4(CENPJ):c.3302-15A>G http://identifiers.org/clinvar/210665 ^@ NM_018451.4(CENPJ):c.3007dupA (p.Ile1003Asnfs) http://identifiers.org/clinvar/210664 ^@ NM_018451.4(CENPJ):c.2944A>G (p.Thr982Ala) http://identifiers.org/clinvar/210663 ^@ NM_018451.4(CENPJ):c.2826-9T>G http://identifiers.org/clinvar/210662 ^@ NM_018451.4(CENPJ):c.2500C>T (p.Leu834=) http://identifiers.org/clinvar/210661 ^@ NM_018451.4(CENPJ):c.1969C>T (p.Gln657Ter) http://identifiers.org/clinvar/210660 ^@ NM_018451.4(CENPJ):c.1882delG (p.Ala628Glnfs) http://identifiers.org/clinvar/210659 ^@ NM_018451.4(CENPJ):c.1880C>T (p.Pro627Leu) http://identifiers.org/clinvar/210658 ^@ NM_018451.4(CENPJ):c.1850_1851delCT (p.Pro617Argfs) http://identifiers.org/clinvar/210657 ^@ NM_018451.4(CENPJ):c.1404_1407delTTCT (p.Ser469Argfs) http://identifiers.org/clinvar/210656 ^@ NM_018451.4(CENPJ):c.1371G>A (p.Pro457=) http://identifiers.org/clinvar/210655 ^@ NM_018451.4(CENPJ):c.1339A>T (p.Lys447Ter) http://identifiers.org/clinvar/210654 ^@ NM_018451.4(CENPJ):c.1263G>C (p.Gln421His) http://identifiers.org/clinvar/210653 ^@ NM_018451.4(CENPJ):c.1021T>G (p.Tyr341Asp) http://identifiers.org/clinvar/210671 ^@ NM_018451.4(CENPJ):c.993T>C (p.Ile331=) http://identifiers.org/clinvar/210670 ^@ NM_018451.4(CENPJ):c.897_898delAG (p.Glu300Thrfs) http://identifiers.org/clinvar/210669 ^@ NM_018451.4(CENPJ):c.777_787delGTCTCCTAATTinsCT (p.Ser260_Asn262del) http://identifiers.org/clinvar/210486 ^@ NM_016529.5(ATP8A2):c.1872G>T (p.Leu624Phe) http://identifiers.org/clinvar/211894 ^@ NM_000209.3(PDX1):c.285G>A (p.Pro95=) http://identifiers.org/clinvar/210531 ^@ NM_000059.3(BRCA2):c.8487+133C>T http://identifiers.org/clinvar/210532 ^@ NM_000059.3(BRCA2):c.8953+5del http://identifiers.org/clinvar/210485 ^@ NM_000053.3(ATP7B):c.3505A>G (p.Met1169Val) http://identifiers.org/clinvar/210484 ^@ NM_000053.3(ATP7B):c.3069T>C (p.Thr1023=) http://identifiers.org/clinvar/210483 ^@ NM_000053.3(ATP7B):c.2165dupT (p.Arg723Glufs) http://identifiers.org/clinvar/210482 ^@ NM_000053.3(ATP7B):c.1772G>A (p.Gly591Asp) http://identifiers.org/clinvar/210481 ^@ NM_000053.3(ATP7B):c.1707+10_1707+11dupGT http://identifiers.org/clinvar/210480 ^@ NM_000053.3(ATP7B):c.1129A>G (p.Ile377Val) http://identifiers.org/clinvar/212373 ^@ NM_014832.4(TBC1D4):c.3664-14dupT http://identifiers.org/clinvar/212372 ^@ NM_014832.4(TBC1D4):c.145A>C (p.Arg49=) http://identifiers.org/clinvar/210883 ^@ NM_001376.4(DYNC1H1):c.791G>A (p.Arg264Gln) http://identifiers.org/clinvar/210868 ^@ NM_001376.4(DYNC1H1):c.2719-6C>T http://identifiers.org/clinvar/210869 ^@ NM_001376.4(DYNC1H1):c.4395+2C>T http://identifiers.org/clinvar/210870 ^@ NM_001376.4(DYNC1H1):c.4515G>A (p.Ser1505=) http://identifiers.org/clinvar/210871 ^@ NM_001376.4(DYNC1H1):c.5298G>T (p.Leu1766=) http://identifiers.org/clinvar/210872 ^@ NM_001376.4(DYNC1H1):c.5655T>A (p.Thr1885=) http://identifiers.org/clinvar/210873 ^@ NM_001376.4(DYNC1H1):c.5985C>T (p.Ala1995=) http://identifiers.org/clinvar/210874 ^@ NM_001376.4(DYNC1H1):c.6468G>A (p.Leu2156=) http://identifiers.org/clinvar/210875 ^@ NM_001376.4(DYNC1H1):c.7203A>C (p.Lys2401Asn) http://identifiers.org/clinvar/210876 ^@ NM_001376.4(DYNC1H1):c.7239G>T (p.Leu2413=) http://identifiers.org/clinvar/210877 ^@ NM_001376.4(DYNC1H1):c.7403A>T (p.Asn2468Ile) http://identifiers.org/clinvar/210878 ^@ NM_001376.4(DYNC1H1):c.7458G>T (p.Leu2486=) http://identifiers.org/clinvar/210879 ^@ NM_001376.4(DYNC1H1):c.7746C>T (p.Tyr2582=) http://identifiers.org/clinvar/210880 ^@ NM_001376.4(DYNC1H1):c.7758C>T (p.Ala2586=) http://identifiers.org/clinvar/210881 ^@ NM_001376.4(DYNC1H1):c.7884A>G (p.Pro2628=) http://identifiers.org/clinvar/210882 ^@ NM_001376.4(DYNC1H1):c.7918G>A (p.Glu2640Lys) http://identifiers.org/clinvar/210884 ^@ NM_001376.4(DYNC1H1):c.8502A>G (p.Gln2834=) http://identifiers.org/clinvar/210885 ^@ NM_001376.4(DYNC1H1):c.8876A>G (p.Tyr2959Cys) http://identifiers.org/clinvar/210886 ^@ NM_001376.4(DYNC1H1):c.9020G>A (p.Arg3007Gln) http://identifiers.org/clinvar/210887 ^@ NM_001376.4(DYNC1H1):c.9138G>T (p.Ser3046=) http://identifiers.org/clinvar/210888 ^@ NM_001376.4(DYNC1H1):c.9372T>C (p.Asp3124=) http://identifiers.org/clinvar/210889 ^@ NM_001376.4(DYNC1H1):c.9960G>T (p.Ala3320=) http://identifiers.org/clinvar/210859 ^@ NM_001376.4(DYNC1H1):c.10548C>T (p.Tyr3516=) http://identifiers.org/clinvar/210860 ^@ NM_001376.4(DYNC1H1):c.11016G>A (p.Ser3672=) http://identifiers.org/clinvar/210861 ^@ NM_001376.4(DYNC1H1):c.11183G>C (p.Arg3728Pro) http://identifiers.org/clinvar/210862 ^@ NM_001376.4(DYNC1H1):c.11520A>G (p.Leu3840=) http://identifiers.org/clinvar/210863 ^@ NM_001376.4(DYNC1H1):c.11685C>T (p.Thr3895=) http://identifiers.org/clinvar/210864 ^@ NM_001376.4(DYNC1H1):c.11721C>A (p.His3907Gln) http://identifiers.org/clinvar/210865 ^@ NM_001376.4(DYNC1H1):c.12181G>A (p.Glu4061Lys) http://identifiers.org/clinvar/210866 ^@ NM_001376.4(DYNC1H1):c.13440C>T (p.Ser4480=) http://identifiers.org/clinvar/210867 ^@ NM_001376.4(DYNC1H1):c.13718A>G (p.Asn4573Ser) http://identifiers.org/clinvar/211559 ^@ NM_000257.3(MYH7):c.5409C>T (p.Ile1803=) http://identifiers.org/clinvar/211558 ^@ NM_000257.3(MYH7):c.4886T>C (p.Leu1629Pro) http://identifiers.org/clinvar/211032 ^@ NM_005249.4(FOXG1):c.430G>A (p.Glu144Lys) http://identifiers.org/clinvar/211033 ^@ NM_005249.4(FOXG1):c.498G>C (p.Gly166=) http://identifiers.org/clinvar/211031 ^@ NM_005249.4(FOXG1):c.1384A>G (p.Ser462Gly) http://identifiers.org/clinvar/211030 ^@ NM_005249.4(FOXG1):c.*8G>T http://identifiers.org/clinvar/210217 ^@ NM_007077.4(AP4S1):c.21G>A (p.Met7Ile) http://identifiers.org/clinvar/210218 ^@ NM_007077.4(AP4S1):c.295-3C>A http://identifiers.org/clinvar/210219 ^@ NM_007077.4(AP4S1):c.348G>A (p.Met116Ile) http://identifiers.org/clinvar/210220 ^@ NM_007077.4(AP4S1):c.367-3dupT http://identifiers.org/clinvar/210706 ^@ NM_021914.7(CFL2):c.74C>G (p.Thr25Arg) http://identifiers.org/clinvar/210989 ^@ NM_020937.3(FANCM):c.3863A>G (p.Asn1288Ser) http://identifiers.org/clinvar/210990 ^@ NM_020937.3(FANCM):c.5190G>A (p.Gln1730=) http://identifiers.org/clinvar/210991 ^@ NM_020937.3(FANCM):c.5656C>T (p.His1886Tyr) http://identifiers.org/clinvar/211346 ^@ NM_024884.2(L2HGDH):c.1269A>G (p.Ala423=) http://identifiers.org/clinvar/211345 ^@ NM_024884.2(L2HGDH):c.1228G>A (p.Asp410Asn) http://identifiers.org/clinvar/211348 ^@ NM_024884.2(L2HGDH):c.465delA (p.Gly156Alafs) http://identifiers.org/clinvar/211347 ^@ NM_024884.2(L2HGDH):c.460G>C (p.Glu154Gln) http://identifiers.org/clinvar/211349 ^@ NM_024884.2(L2HGDH):c.6G>T (p.Val2=) http://identifiers.org/clinvar/211616 ^@ NM_020921.3(NIN):c.5264C>T (p.Ala1755Val) http://identifiers.org/clinvar/211615 ^@ NM_020921.3(NIN):c.5188T>C (p.Leu1730=) http://identifiers.org/clinvar/211613 ^@ NM_020921.3(NIN):c.4288A>T (p.Ile1430Leu) http://identifiers.org/clinvar/211611 ^@ NM_020921.3(NIN):c.3997G>A (p.Glu1333Lys) http://identifiers.org/clinvar/211610 ^@ NM_020921.3(NIN):c.3647G>A (p.Arg1216Gln) http://identifiers.org/clinvar/211609 ^@ NM_020921.3(NIN):c.3641G>A (p.Cys1214Tyr) http://identifiers.org/clinvar/211608 ^@ NM_020921.3(NIN):c.3487G>C (p.Val1163Leu) http://identifiers.org/clinvar/211607 ^@ NM_020921.3(NIN):c.3326A>C (p.Asp1109Ala) http://identifiers.org/clinvar/211606 ^@ NM_020921.3(NIN):c.3196G>A (p.Val1066Ile) http://identifiers.org/clinvar/211605 ^@ NM_020921.3(NIN):c.3007C>G (p.Arg1003Gly) http://identifiers.org/clinvar/211604 ^@ NM_020921.3(NIN):c.2987C>T (p.Ala996Val) http://identifiers.org/clinvar/211603 ^@ NM_020921.3(NIN):c.2654C>G (p.Thr885Arg) http://identifiers.org/clinvar/211602 ^@ NM_020921.3(NIN):c.2482delA (p.Arg828Glyfs) http://identifiers.org/clinvar/211601 ^@ NM_020921.3(NIN):c.2244C>T (p.Ser748=) http://identifiers.org/clinvar/211617 ^@ NM_020921.3(NIN):c.612G>A (p.Arg204=) http://identifiers.org/clinvar/211614 ^@ NM_020921.3(NIN):c.447G>A (p.Thr149=) http://identifiers.org/clinvar/211612 ^@ NM_020921.3(NIN):c.421G>A (p.Gly141Ser) http://identifiers.org/clinvar/211217 ^@ NM_139318.4(KCNH5):c.550-9C>G http://identifiers.org/clinvar/212345 ^@ NM_182914.2(SYNE2):c.521A>G (p.Lys174Arg) http://identifiers.org/clinvar/212640 ^@ NM_015346.3(ZFYVE26):c.4197C>T (p.Thr1399=) http://identifiers.org/clinvar/211950 ^@ NM_013382.5(POMT2):c.1577-5_1577-1delinsTGA http://identifiers.org/clinvar/211949 ^@ NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) http://identifiers.org/clinvar/211951 ^@ NM_013382.5(POMT2):c.678delG (p.Trp226Cysfs) http://identifiers.org/clinvar/211948 ^@ NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) http://identifiers.org/clinvar/211059 ^@ NM_000153.3(GALC):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/211058 ^@ NM_000153.3(GALC):c.331G>A (p.Gly111Ser) http://identifiers.org/clinvar/212625 ^@ NM_024824.4(ZC3H14):c.48G>A (p.Lys16=) http://identifiers.org/clinvar/212627 ^@ NM_024824.4(ZC3H14):c.79+19G>T http://identifiers.org/clinvar/212622 ^@ NM_024824.4(ZC3H14):c.171C>G (p.Asn57Lys) http://identifiers.org/clinvar/212626 ^@ NM_024824.4(ZC3H14):c.736C>G (p.Gln246Glu) http://identifiers.org/clinvar/212619 ^@ NM_024824.4(ZC3H14):c.1230C>T (p.Pro410=) http://identifiers.org/clinvar/212620 ^@ NM_024824.4(ZC3H14):c.1304C>T (p.Ser435Phe) http://identifiers.org/clinvar/212621 ^@ NM_024824.4(ZC3H14):c.1563G>A (p.Thr521=) http://identifiers.org/clinvar/212623 ^@ NM_024824.4(ZC3H14):c.2129C>T (p.Pro710Leu) http://identifiers.org/clinvar/212624 ^@ NM_024824.4(ZC3H14):c.2130G>A (p.Pro710=) http://identifiers.org/clinvar/212458 ^@ NM_198309.3(TTC8):c.415C>T (p.Arg139Cys) http://identifiers.org/clinvar/210618 ^@ NM_001080414.3(CCDC88C):c.1675C>T (p.Leu559Phe) http://identifiers.org/clinvar/210512 ^@ NM_004993.5(ATXN3):c.916delGins20 (p.?) http://identifiers.org/clinvar/210511 ^@ NM_004993.5(ATXN3):c.882_884delAAA (p.Lys295del) http://identifiers.org/clinvar/210510 ^@ NM_004993.5(ATXN3):c.357C>G (p.His119Gln) http://identifiers.org/clinvar/212586 ^@ NM_003384.2(VRK1):c.1150A>G (p.Ile384Val) http://identifiers.org/clinvar/211772 ^@ NM_000275.2(OCA2):c.647-?_890+?del http://identifiers.org/clinvar/211771 ^@ NM_000275.2(OCA2):c.647-?_807+?del http://identifiers.org/clinvar/211383 ^@ NM_001040616.2(LINS1):c.1912G>A (p.Glu638Lys) http://identifiers.org/clinvar/211382 ^@ NM_001040616.2(LINS1):c.1813A>G (p.Met605Val) http://identifiers.org/clinvar/211381 ^@ NM_001040616.2(LINS1):c.1632C>T (p.Asn544=) http://identifiers.org/clinvar/211380 ^@ NM_001040616.2(LINS1):c.1394+4A>G http://identifiers.org/clinvar/211379 ^@ NM_001040616.2(LINS1):c.1347G>A (p.Met449Ile) http://identifiers.org/clinvar/211378 ^@ NM_001040616.2(LINS1):c.1194A>G (p.Gln398=) http://identifiers.org/clinvar/211386 ^@ NM_001040616.2(LINS1):c.864C>T (p.Thr288=) http://identifiers.org/clinvar/211385 ^@ NM_001040616.2(LINS1):c.718C>T (p.Arg240Trp) http://identifiers.org/clinvar/211384 ^@ NM_001040616.2(LINS1):c.569G>T (p.Cys190Phe) http://identifiers.org/clinvar/211618 ^@ NM_144599.4(NIPA1):c.746A>G (p.Asn249Ser) http://identifiers.org/clinvar/211416 ^@ NM_019066.4(MAGEL2):c.2886C>T (p.Ser962=) http://identifiers.org/clinvar/211415 ^@ NM_019066.4(MAGEL2):c.1038G>C (p.Arg346Ser) http://identifiers.org/clinvar/211417 ^@ NM_019066.4(MAGEL2):c.434C>T (p.Pro145Leu) http://identifiers.org/clinvar/212536 ^@ NM_130838.1(UBE3A):c.2547dupT (p.Gly850Trpfs) http://identifiers.org/clinvar/212535 ^@ NM_130838.1(UBE3A):c.2503_2507dupCTTAA (p.Lys836Asnfs) http://identifiers.org/clinvar/212533 ^@ NM_130838.1(UBE3A):c.2463_2506dup44 (p.Lys836Ilefs) http://identifiers.org/clinvar/212534 ^@ NM_130838.1(UBE3A):c.2502dupA (p.Leu835Thrfs) http://identifiers.org/clinvar/212532 ^@ NM_130838.1(UBE3A):c.2337_2340dupAAGA (p.Leu781Lysfs) http://identifiers.org/clinvar/212531 ^@ NM_130838.1(UBE3A):c.2178dupA (p.Phe727Ilefs) http://identifiers.org/clinvar/212529 ^@ NM_130838.1(UBE3A):c.1125A>T (p.Glu375Asp) http://identifiers.org/clinvar/212538 ^@ NM_130838.1(UBE3A):c.840_852delAATGGCTTTGCCAinsC (p.Glu280_Pro284delinsAsp) http://identifiers.org/clinvar/212537 ^@ NM_130838.1(UBE3A):c.599A>C (p.Asn200Thr) http://identifiers.org/clinvar/212530 ^@ NM_130838.1(UBE3A):c.2+1_2+2insAA http://identifiers.org/clinvar/211770 ^@ NM_000275.2(OCA2):c.2344G>A (p.Gly782Arg) http://identifiers.org/clinvar/211769 ^@ NM_000275.2(OCA2):c.2012A>T (p.Glu671Val) http://identifiers.org/clinvar/211768 ^@ NM_000275.2(OCA2):c.1503+5G>A http://identifiers.org/clinvar/211767 ^@ NM_000275.2(OCA2):c.1427A>G (p.Asn476Ser) http://identifiers.org/clinvar/211766 ^@ NM_000275.2(OCA2):c.1211C>T (p.Thr404Met) http://identifiers.org/clinvar/211765 ^@ NM_000275.2(OCA2):c.1153T>A (p.Phe385Ile) http://identifiers.org/clinvar/210731 ^@ NM_130468.3(CHST14):c.288G>A (p.Arg96=) http://identifiers.org/clinvar/210564 ^@ NM_170589.4(KNL1):c.221T>C (p.Met74Thr) http://identifiers.org/clinvar/210566 ^@ NM_170589.4(KNL1):c.329-7T>A http://identifiers.org/clinvar/210578 ^@ NM_170589.4(KNL1):c.772delG (p.Asp258Metfs) http://identifiers.org/clinvar/210579 ^@ NM_170589.4(KNL1):c.983A>C (p.Asn328Thr) http://identifiers.org/clinvar/210565 ^@ NM_170589.4(KNL1):c.2346A>G (p.Ser782=) http://identifiers.org/clinvar/210567 ^@ NM_170589.4(KNL1):c.3552A>G (p.Thr1184=) http://identifiers.org/clinvar/210568 ^@ NM_170589.4(KNL1):c.3595T>G (p.Phe1199Val) http://identifiers.org/clinvar/210569 ^@ NM_170589.4(KNL1):c.3711C>T (p.Ile1237=) http://identifiers.org/clinvar/210570 ^@ NM_170589.4(KNL1):c.3784G>T (p.Ala1262Ser) http://identifiers.org/clinvar/210571 ^@ NM_170589.4(KNL1):c.5349C>T (p.Cys1783=) http://identifiers.org/clinvar/210572 ^@ NM_170589.4(KNL1):c.5963_5966delAAGA (p.Lys1988Serfs) http://identifiers.org/clinvar/210573 ^@ NM_170589.4(KNL1):c.6052G>T (p.Ala2018Ser) http://identifiers.org/clinvar/210574 ^@ NM_170589.4(KNL1):c.6112A>G (p.Ile2038Val) http://identifiers.org/clinvar/210575 ^@ NM_170589.4(KNL1):c.6242C>T (p.Ala2081Val) http://identifiers.org/clinvar/210576 ^@ NM_170589.4(KNL1):c.6503C>T (p.Pro2168Leu) http://identifiers.org/clinvar/210577 ^@ NM_170589.4(KNL1):c.6560A>G (p.Asp2187Gly) http://identifiers.org/clinvar/211580 ^@ NM_016013.3(NDUFAF1):c.708G>A (p.Met236Ile) http://identifiers.org/clinvar/210563 ^@ NM_000070.2(CAPN3):c.327_328dupCC (p.Arg110Profs) http://identifiers.org/clinvar/210561 ^@ NM_000070.2(CAPN3):c.1557C>T (p.His519=) http://identifiers.org/clinvar/210562 ^@ NM_000070.2(CAPN3):c.2390A>G (p.His797Arg) http://identifiers.org/clinvar/212293 ^@ NM_025137.3(SPG11):c.5696G>A (p.Arg1899Gln) http://identifiers.org/clinvar/212292 ^@ NM_025137.3(SPG11):c.2318T>G (p.Val773Gly) http://identifiers.org/clinvar/210688 ^@ NM_001194998.1(CEP152):c.4365_4376delTTTGCCAAGGAAinsGTT (p.Ser1455_Asn1459delinsArgPhe) http://identifiers.org/clinvar/210687 ^@ NM_014985.3(CEP152):c.3071G>T (p.Arg1024Leu) http://identifiers.org/clinvar/210686 ^@ NM_001194998.1(CEP152):c.3014_3015delAAinsT (p.Lys1005Ilefs) http://identifiers.org/clinvar/210685 ^@ NM_014985.3(CEP152):c.186C>T (p.Asp62=) http://identifiers.org/clinvar/210691 ^@ NM_014985.3(CEP152):c.87+11_87+12del http://identifiers.org/clinvar/210690 ^@ NM_001194998.1(CEP152):c.87+10dupT http://identifiers.org/clinvar/210689 ^@ NM_014985.3(CEP152):c.60C>T (p.Asp20=) http://identifiers.org/clinvar/210201 ^@ NM_007347.4(AP4E1):c.222+9G>A http://identifiers.org/clinvar/210202 ^@ NM_007347.4(AP4E1):c.258T>C (p.Tyr86=) http://identifiers.org/clinvar/210204 ^@ NM_007347.4(AP4E1):c.648C>T (p.Asp216=) http://identifiers.org/clinvar/210205 ^@ NM_007347.4(AP4E1):c.711A>T (p.Ser237=) http://identifiers.org/clinvar/210197 ^@ NM_007347.4(AP4E1):c.1105A>C (p.Thr369Pro) http://identifiers.org/clinvar/210198 ^@ NM_007347.4(AP4E1):c.1177-9T>C http://identifiers.org/clinvar/210199 ^@ NM_007347.4(AP4E1):c.1425G>A (p.Ala475=) http://identifiers.org/clinvar/210200 ^@ NM_007347.4(AP4E1):c.1458A>G (p.Gln486=) http://identifiers.org/clinvar/210203 ^@ NM_007347.4(AP4E1):c.3264G>C (p.Gly1088=) http://identifiers.org/clinvar/211573 ^@ NM_000259.3(MYO5A):c.5544C>T (p.Gly1848=) http://identifiers.org/clinvar/211572 ^@ NM_000259.3(MYO5A):c.5334+4G>A http://identifiers.org/clinvar/211571 ^@ NM_000259.3(MYO5A):c.4902G>A (p.Thr1634=) http://identifiers.org/clinvar/211570 ^@ NM_000259.3(MYO5A):c.1476T>C (p.Asn492=) http://identifiers.org/clinvar/211569 ^@ NM_000259.3(MYO5A):c.1094G>A (p.Gly365Asp) http://identifiers.org/clinvar/211574 ^@ NM_000259.3(MYO5A):c.852C>G (p.Asn284Lys) http://identifiers.org/clinvar/212375 ^@ NM_207036.1(TCF12):c.897C>T (p.Arg299=) http://identifiers.org/clinvar/212689 ^@ NM_014630.2(ZNF592):c.1618C>T (p.Leu540=) http://identifiers.org/clinvar/210985 ^@ NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) http://identifiers.org/clinvar/210986 ^@ NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) http://identifiers.org/clinvar/210987 ^@ NM_001113378.1(FANCI):c.3721-127_3721-126insGTACAA http://identifiers.org/clinvar/210984 ^@ NM_001113378.1(FANCI):c.*560A>G http://identifiers.org/clinvar/211927 ^@ NM_002693.2(POLG):c.970C>A (p.Pro324Thr) http://identifiers.org/clinvar/211301 ^@ NM_198525.2(KIF7):c.2907G>C (p.Glu969Asp) http://identifiers.org/clinvar/211174 ^@ NM_002168.3(IDH2):c.1194G>A (p.Leu398=) http://identifiers.org/clinvar/211173 ^@ NM_002168.3(IDH2):c.1038C>T (p.Ala346=) http://identifiers.org/clinvar/211177 ^@ NM_002168.3(IDH2):c.782G>A (p.Arg261His) http://identifiers.org/clinvar/211176 ^@ NM_002168.3(IDH2):c.673G>A (p.Asp225Asn) http://identifiers.org/clinvar/211175 ^@ NM_002168.3(IDH2):c.429G>C (p.Leu143=) http://identifiers.org/clinvar/210529 ^@ NM_000057.3(BLM):c.3359-121_3359-120insA http://identifiers.org/clinvar/210530 ^@ NM_000057.3(BLM):c.4077-59_4077-57dup http://identifiers.org/clinvar/210709 ^@ NM_001271.3(CHD2):c.225C>G (p.Ser75=) http://identifiers.org/clinvar/210710 ^@ NM_001271.3(CHD2):c.239C>T (p.Pro80Leu) http://identifiers.org/clinvar/210708 ^@ NM_001271.3(CHD2):c.1091A>G (p.Asn364Ser) http://identifiers.org/clinvar/210711 ^@ NM_001271.3(CHD2):c.4482C>T (p.Asn1494=) http://identifiers.org/clinvar/210766 ^@ NM_004380.2(CREBBP):c.(?_-23)_85+?del http://identifiers.org/clinvar/211114 ^@ NM_000833.4(GRIN2A):c.171C>T (p.Pro57=) http://identifiers.org/clinvar/210952 ^@ NM_005236.2(ERCC4):c.*2577C>A http://identifiers.org/clinvar/210953 ^@ NM_005236.2(ERCC4):c.*2577delC http://identifiers.org/clinvar/211576 ^@ NM_001143979.1(NDE1):c.117C>T (p.Phe39=) http://identifiers.org/clinvar/211577 ^@ NM_001143979.1(NDE1):c.155C>T (p.Thr52Met) http://identifiers.org/clinvar/211578 ^@ NM_001143979.1(NDE1):c.238_240delGAG (p.Glu80del) http://identifiers.org/clinvar/211579 ^@ NM_001143979.1(NDE1):c.723G>T (p.Gly241=) http://identifiers.org/clinvar/211548 ^@ NM_001040113.1(MYH11):c.3443_3491del49 (p.Lys1148Thrfs) http://identifiers.org/clinvar/211547 ^@ NM_001040113.1(MYH11):c.2830_2831delAG (p.Arg944Glyfs) http://identifiers.org/clinvar/212371 ^@ NM_020705.2(TBC1D24):c.1008G>A (p.Ser336=) http://identifiers.org/clinvar/212301 ^@ NM_006662.2(SRCAP):c.7725_7727delCTC (p.Ser2576del) http://identifiers.org/clinvar/210517 ^@ NM_005881.3(BCKDK):c.669T>C (p.Thr223=) http://identifiers.org/clinvar/210516 ^@ NM_005881.3(BCKDK):c.1058A>G (p.Asp353Gly) http://identifiers.org/clinvar/212221 ^@ NM_032444.2(SLX4):c.5281C>T (p.Arg1761Cys) http://identifiers.org/clinvar/212220 ^@ NM_032444.2(SLX4):c.5029C>T (p.Pro1677Ser) http://identifiers.org/clinvar/212219 ^@ NM_032444.2(SLX4):c.4241C>T (p.Pro1414Leu) http://identifiers.org/clinvar/212222 ^@ NM_032444.2(SLX4):c.710G>A (p.Arg237Gln) http://identifiers.org/clinvar/210787 ^@ NM_004380.2(CREBBP):c.6618_6620dupGCA (p.Gln2216_Gly2217insGln) http://identifiers.org/clinvar/210786 ^@ NM_004380.2(CREBBP):c.6395_6417dup23 (p.Gln2140Alafs) http://identifiers.org/clinvar/210785 ^@ NM_004380.2(CREBBP):c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) http://identifiers.org/clinvar/210784 ^@ NM_004380.2(CREBBP):c.5936_5937insT (p.Ser1980Glnfs) http://identifiers.org/clinvar/210783 ^@ NM_004380.2(CREBBP):c.5837dupC (p.Pro1947Thrfs) http://identifiers.org/clinvar/210782 ^@ NM_004380.2(CREBBP):c.5412C>A (p.His1804Gln) http://identifiers.org/clinvar/210781 ^@ NM_004380.2(CREBBP):c.5027G>A (p.Trp1676Ter) http://identifiers.org/clinvar/210780 ^@ NM_004380.2(CREBBP):c.4281G>T (p.Arg1427Ser) http://identifiers.org/clinvar/210779 ^@ NM_004380.2(CREBBP):c.4267C>T (p.Pro1423Ser) http://identifiers.org/clinvar/210778 ^@ NM_004380.2(CREBBP):c.3490G>C (p.Ala1164Pro) http://identifiers.org/clinvar/210776 ^@ NM_004380.2(CREBBP):c.3461dupT (p.Asp1155Glyfs) http://identifiers.org/clinvar/210775 ^@ NM_004380.2(CREBBP):c.3436C>T (p.Gln1146Ter) http://identifiers.org/clinvar/210774 ^@ NM_004380.2(CREBBP):c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs) http://identifiers.org/clinvar/210771 ^@ NM_004380.2(CREBBP):c.2810dupC (p.Ser938Valfs) http://identifiers.org/clinvar/210770 ^@ NM_004380.2(CREBBP):c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs) http://identifiers.org/clinvar/210769 ^@ NM_004380.2(CREBBP):c.2178dupC (p.Met727Hisfs) http://identifiers.org/clinvar/210768 ^@ NM_004380.2(CREBBP):c.1331-4A>G http://identifiers.org/clinvar/210767 ^@ NM_004380.2(CREBBP):c.1331-12T>C http://identifiers.org/clinvar/210789 ^@ NM_004380.2(CREBBP):c.827_828dupTT (p.Gly277Leufs) http://identifiers.org/clinvar/210777 ^@ NM_004380.2(CREBBP):c.348_349dupTG (p.Ala117Valfs) http://identifiers.org/clinvar/210772 ^@ NM_004380.2(CREBBP):c.282dupC (p.Val95Argfs) http://identifiers.org/clinvar/210790 ^@ NM_004380.2(CREBBP):c.86-1G>T http://identifiers.org/clinvar/210788 ^@ NM_004380.2(CREBBP):c.71C>T (p.Ala24Val) http://identifiers.org/clinvar/210773 ^@ NM_004380.2(CREBBP):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/211807 ^@ NM_014321.3(ORC6):c.359+7G>A http://identifiers.org/clinvar/211808 ^@ NM_014321.3(ORC6):c.360-13A>G http://identifiers.org/clinvar/212063 ^@ NM_015272.4(RPGRIP1L):c.3719T>C (p.Val1240Ala) http://identifiers.org/clinvar/212062 ^@ NM_015272.4(RPGRIP1L):c.2807T>G (p.Ile936Ser) http://identifiers.org/clinvar/212061 ^@ NM_015272.4(RPGRIP1L):c.2483C>A (p.Ala828Asp) http://identifiers.org/clinvar/212060 ^@ NM_001127897.3(RPGRIP1L):c.1158dupA (p.Val387Serfs) http://identifiers.org/clinvar/212064 ^@ NM_015272.4(RPGRIP1L):c.532A>G (p.Ile178Val) http://identifiers.org/clinvar/211088 ^@ NM_020988.2(GNAO1):c.680C>T (p.Ala227Val) http://identifiers.org/clinvar/211094 ^@ NM_005682.6(ADGRG1):c.253_261delAGGGGCCTC (p.Arg85_Leu87del) http://identifiers.org/clinvar/211095 ^@ NM_005682.6(ADGRG1):c.768+4A>C http://identifiers.org/clinvar/211096 ^@ NM_005682.6(ADGRG1):c.944_945dupTT (p.Val316Leufs) http://identifiers.org/clinvar/211093 ^@ NM_005682.6(ADGRG1):c.1216delC (p.Leu406Serfs) http://identifiers.org/clinvar/212550 ^@ NM_024598.3(USB1):c.*319_*322dupCTCT http://identifiers.org/clinvar/210798 ^@ NM_006565.3(CTCF):c.1021C>T (p.Arg341Cys) http://identifiers.org/clinvar/210799 ^@ NM_006565.3(CTCF):c.1887C>T (p.Ala629=) http://identifiers.org/clinvar/210800 ^@ NM_006565.3(CTCF):c.1927C>T (p.Pro643Ser) http://identifiers.org/clinvar/210801 ^@ NM_006565.3(CTCF):c.1986C>G (p.Pro662=) http://identifiers.org/clinvar/210802 ^@ NM_006565.3(CTCF):c.2139C>T (p.Asn713=) http://identifiers.org/clinvar/212325 ^@ NM_005861.3(STUB1):c.433A>C (p.Lys145Gln) http://identifiers.org/clinvar/210968 ^@ NM_024306.4(FA2H):c.*6C>G http://identifiers.org/clinvar/210969 ^@ NM_024306.4(FA2H):c.762C>T (p.Phe254=) http://identifiers.org/clinvar/212404 ^@ NM_001077418.2(TMEM231):c.891G>A (p.Val297=) http://identifiers.org/clinvar/212617 ^@ NM_016373.3(WWOX):c.885G>A (p.Arg295=) http://identifiers.org/clinvar/210650 ^@ NM_030928.3(CDT1):c.738C>T (p.Ser246=) http://identifiers.org/clinvar/210651 ^@ NM_030928.3(CDT1):c.965T>C (p.Val322Ala) http://identifiers.org/clinvar/210648 ^@ NM_030928.3(CDT1):c.1196T>C (p.Leu399Pro) http://identifiers.org/clinvar/210649 ^@ NM_030928.3(CDT1):c.1411C>G (p.Pro471Ala) http://identifiers.org/clinvar/210623 ^@ NM_004933.2(CDH15):c.107G>A (p.Arg36Gln) http://identifiers.org/clinvar/210630 ^@ NM_004933.2(CDH15):c.669C>A (p.Val223=) http://identifiers.org/clinvar/210624 ^@ NM_004933.2(CDH15):c.1615+3G>A http://identifiers.org/clinvar/210625 ^@ NM_004933.2(CDH15):c.1722T>G (p.Pro574=) http://identifiers.org/clinvar/210626 ^@ NM_004933.2(CDH15):c.1912G>C (p.Gly638Arg) http://identifiers.org/clinvar/210627 ^@ NM_004933.2(CDH15):c.2146A>G (p.Asn716Asp) http://identifiers.org/clinvar/210628 ^@ NM_004933.2(CDH15):c.2159A>C (p.Glu720Ala) http://identifiers.org/clinvar/210629 ^@ NM_004933.2(CDH15):c.2226C>A (p.Asp742Glu) http://identifiers.org/clinvar/210180 ^@ NM_013275.5(ANKRD11):c.5661A>G (p.Gln1887=) http://identifiers.org/clinvar/212294 ^@ NM_003119.3(SPG7):c.861dupT (p.Asn288Terfs) http://identifiers.org/clinvar/210727 ^@ NM_002768.4(CHMP1A):c.210C>T (p.Asp70=) http://identifiers.org/clinvar/210972 ^@ NM_000135.2(FANCA):c.1826+12C>T http://identifiers.org/clinvar/210971 ^@ NM_000135.2(FANCA):c.1359+123C>G http://identifiers.org/clinvar/210974 ^@ NM_000135.2(FANCA):c.827-156G>A http://identifiers.org/clinvar/210973 ^@ NM_000135.2(FANCA):c.826+5_826+9del http://identifiers.org/clinvar/210970 ^@ NM_000135.2(FANCA):c.-138_-126dup http://identifiers.org/clinvar/212499 ^@ NM_006086.3(TUBB3):c.190A>G (p.Ile64Val) http://identifiers.org/clinvar/212500 ^@ NM_006086.3(TUBB3):c.946G>A (p.Val316Met) http://identifiers.org/clinvar/212498 ^@ NM_006086.3(TUBB3):c.1287G>A (p.Thr429=) http://identifiers.org/clinvar/211118 ^@ NM_000833.4(GRIN2A):c.4081C>G (p.His1361Asp) http://identifiers.org/clinvar/211117 ^@ NM_000833.4(GRIN2A):c.3544G>T (p.Asp1182Tyr) http://identifiers.org/clinvar/211116 ^@ NM_000833.4(GRIN2A):c.3037C>T (p.Leu1013=) http://identifiers.org/clinvar/211115 ^@ NM_000833.4(GRIN2A):c.2636A>G (p.Lys879Arg) http://identifiers.org/clinvar/211113 ^@ NM_000833.4(GRIN2A):c.1374G>A (p.Gly458=) http://identifiers.org/clinvar/211119 ^@ NM_000833.4(GRIN2A):c.495T>C (p.Tyr165=) http://identifiers.org/clinvar/211567 ^@ NM_002472.2(MYH8):c.5350C>G (p.Arg1784Gly) http://identifiers.org/clinvar/211566 ^@ NM_002472.2(MYH8):c.5113G>A (p.Ala1705Thr) http://identifiers.org/clinvar/211565 ^@ NM_002472.2(MYH8):c.4740A>C (p.Ala1580=) http://identifiers.org/clinvar/211564 ^@ NM_002472.2(MYH8):c.4042G>A (p.Glu1348Lys) http://identifiers.org/clinvar/211563 ^@ NM_002472.2(MYH8):c.3532C>T (p.Arg1178Cys) http://identifiers.org/clinvar/211562 ^@ NM_002472.2(MYH8):c.3254+1G>T http://identifiers.org/clinvar/211561 ^@ NM_002472.2(MYH8):c.3019delC (p.Gln1007Serfs) http://identifiers.org/clinvar/211560 ^@ NM_002472.2(MYH8):c.2432+6A>C http://identifiers.org/clinvar/211568 ^@ NM_002472.2(MYH8):c.540C>T (p.Thr180=) http://identifiers.org/clinvar/211556 ^@ NM_002470.3(MYH3):c.5198C>A (p.Thr1733Lys) http://identifiers.org/clinvar/211555 ^@ NM_002470.3(MYH3):c.4910C>T (p.Ala1637Val) http://identifiers.org/clinvar/211552 ^@ NM_002470.3(MYH3):c.3592G>A (p.Ala1198Thr) http://identifiers.org/clinvar/211551 ^@ NM_002470.3(MYH3):c.1802C>T (p.Pro601Leu) http://identifiers.org/clinvar/211550 ^@ NM_002470.3(MYH3):c.1504T>G (p.Tyr502Asp) http://identifiers.org/clinvar/211549 ^@ NM_002470.3(MYH3):c.1480A>G (p.Met494Val) http://identifiers.org/clinvar/211557 ^@ NM_002470.3(MYH3):c.875C>G (p.Ser292Cys) http://identifiers.org/clinvar/211554 ^@ NM_002470.3(MYH3):c.379A>G (p.Asn127Asp) http://identifiers.org/clinvar/211553 ^@ NM_002470.3(MYH3):c.376G>C (p.Val126Leu) http://identifiers.org/clinvar/212457 ^@ NM_017775.3(TTC19):c.478A>C (p.Lys160Gln) http://identifiers.org/clinvar/212004 ^@ NM_030665.3(RAI1):c.214G>A (p.Ala72Thr) http://identifiers.org/clinvar/212014 ^@ NM_030665.3(RAI1):c.861_872dupGCAGCAGCAGCA (p.Gln291_Ala292insGlnGlnGlnGln) http://identifiers.org/clinvar/212015 ^@ NM_030665.3(RAI1):c.867_872delGCAGCA (p.Gln290_Gln291del) http://identifiers.org/clinvar/211998 ^@ NM_030665.3(RAI1):c.1110T>G (p.Phe370Leu) http://identifiers.org/clinvar/211999 ^@ NM_030665.3(RAI1):c.1279C>T (p.Leu427=) http://identifiers.org/clinvar/212000 ^@ NM_030665.3(RAI1):c.1524G>A (p.Thr508=) http://identifiers.org/clinvar/212001 ^@ NM_030665.3(RAI1):c.1580G>A (p.Arg527His) http://identifiers.org/clinvar/212002 ^@ NM_030665.3(RAI1):c.1665C>G (p.Thr555=) http://identifiers.org/clinvar/212003 ^@ NM_030665.3(RAI1):c.1740G>T (p.Pro580=) http://identifiers.org/clinvar/212005 ^@ NM_030665.3(RAI1):c.2700C>T (p.Thr900=) http://identifiers.org/clinvar/212006 ^@ NM_030665.3(RAI1):c.3030C>A (p.Ala1010=) http://identifiers.org/clinvar/212007 ^@ NM_030665.3(RAI1):c.3143C>A (p.Ala1048Asp) http://identifiers.org/clinvar/212008 ^@ NM_030665.3(RAI1):c.3158C>T (p.Pro1053Leu) http://identifiers.org/clinvar/212009 ^@ NM_030665.3(RAI1):c.3590G>T (p.Gly1197Val) http://identifiers.org/clinvar/212010 ^@ NM_030665.3(RAI1):c.4039A>G (p.Lys1347Glu) http://identifiers.org/clinvar/212011 ^@ NM_030665.3(RAI1):c.5204C>T (p.Pro1735Leu) http://identifiers.org/clinvar/212012 ^@ NM_030665.3(RAI1):c.5254G>A (p.Gly1752Arg) http://identifiers.org/clinvar/212013 ^@ NM_030665.3(RAI1):c.5517C>T (p.Ala1839=) http://identifiers.org/clinvar/211822 ^@ NM_000430.3(PAFAH1B1):c.33-3C>G http://identifiers.org/clinvar/211830 ^@ NM_000430.3(PAFAH1B1):c.71_72dupAT (p.Glu25Metfs) http://identifiers.org/clinvar/211820 ^@ NM_000430.3(PAFAH1B1):c.190_192+5dup http://identifiers.org/clinvar/211821 ^@ NM_000430.3(PAFAH1B1):c.288_289dupCC (p.Arg97Profs) http://identifiers.org/clinvar/211823 ^@ NM_000430.3(PAFAH1B1):c.347dupT (p.His117Profs) http://identifiers.org/clinvar/211824 ^@ NM_000430.3(PAFAH1B1):c.350A>G (p.His117Arg) http://identifiers.org/clinvar/211825 ^@ NM_000430.3(PAFAH1B1):c.441dupA (p.Gly148Argfs) http://identifiers.org/clinvar/211826 ^@ NM_000430.3(PAFAH1B1):c.537dupT (p.Gln180Serfs) http://identifiers.org/clinvar/211827 ^@ NM_000430.3(PAFAH1B1):c.569-3delT http://identifiers.org/clinvar/211828 ^@ NM_000430.3(PAFAH1B1):c.667dupA (p.Thr223Asnfs) http://identifiers.org/clinvar/211829 ^@ NM_000430.3(PAFAH1B1):c.702_703delAG (p.Glu235Metfs) http://identifiers.org/clinvar/211831 ^@ NM_000430.3(PAFAH1B1):c.728_732dupATCAA (p.Asp245Ilefs) http://identifiers.org/clinvar/211832 ^@ NM_000430.3(PAFAH1B1):c.770_772delCTGinsTGACCCA (p.Thr257Metfs) http://identifiers.org/clinvar/211833 ^@ NM_000430.3(PAFAH1B1):c.771_772delTG (p.Val258Alafs) http://identifiers.org/clinvar/211834 ^@ NM_000430.3(PAFAH1B1):c.829dupC (p.His277Profs) http://identifiers.org/clinvar/211835 ^@ NM_000430.3(PAFAH1B1):c.911delG (p.Ser304Metfs) http://identifiers.org/clinvar/211836 ^@ NM_000430.3(PAFAH1B1):c.933dupG (p.Leu312Alafs) http://identifiers.org/clinvar/211817 ^@ NM_000430.3(PAFAH1B1):c.1003-30_1032del http://identifiers.org/clinvar/211818 ^@ NM_000430.3(PAFAH1B1):c.1018dupT (p.Trp340Leufs) http://identifiers.org/clinvar/212057 ^@ NM_032322.3(RNF135):c.356_357delGCinsAA (p.Arg119Gln) http://identifiers.org/clinvar/210619 ^@ NM_001254.3(CDC6):c.165C>T (p.Pro55=) http://identifiers.org/clinvar/210620 ^@ NM_001254.3(CDC6):c.640C>T (p.Arg214Trp) http://identifiers.org/clinvar/210621 ^@ NM_001254.3(CDC6):c.712A>G (p.Thr238Ala) http://identifiers.org/clinvar/210622 ^@ NM_001254.3(CDC6):c.809A>G (p.His270Arg) http://identifiers.org/clinvar/212264 ^@ NM_003079.4(SMARCE1):c.624_627delTGAG (p.Ser208Argfs) http://identifiers.org/clinvar/211974 ^@ NM_012232.5(CAVIN1):c.923A>G (p.Tyr308Cys) http://identifiers.org/clinvar/211056 ^@ NM_138387.3(G6PC3):c.*2T>C http://identifiers.org/clinvar/210915 ^@ NM_004247.3(EFTUD2):c.1297_1298delAT (p.Met433Valfs) http://identifiers.org/clinvar/210914 ^@ NM_004247.3(EFTUD2):c.1149+1G>C http://identifiers.org/clinvar/211092 ^@ NM_004287.4(GOSR2):c.336+1G>A http://identifiers.org/clinvar/211924 ^@ NM_018129.3(PNPO):c.119G>A (p.Ser40Asn) http://identifiers.org/clinvar/211502 ^@ NM_017777.3(MKS1):c.1436G>A (p.Arg479His) http://identifiers.org/clinvar/211501 ^@ NM_017777.3(MKS1):c.1158A>G (p.Glu386=) http://identifiers.org/clinvar/211503 ^@ NM_017777.3(MKS1):c.844C>T (p.Arg282Ter) http://identifiers.org/clinvar/210534 ^@ NM_032043.2(BRIP1):c.*2815_*2816insAAGAAA http://identifiers.org/clinvar/210533 ^@ NM_032043.2(BRIP1):c.*2090G>C http://identifiers.org/clinvar/210536 ^@ NM_032043.2(BRIP1):c.2906-61A>G http://identifiers.org/clinvar/210535 ^@ NM_032043.2(BRIP1):c.206-21T>C http://identifiers.org/clinvar/212324 ^@ NM_001003787.2(STRADA):c.135G>A (p.Ala45=) http://identifiers.org/clinvar/212133 ^@ NM_000334.4(SCN4A):c.5420_5425delTGATGC (p.Leu1807_Met1808del) http://identifiers.org/clinvar/212197 ^@ NM_021734.4(SLC25A19):c.789G>C (p.Lys263Asn) http://identifiers.org/clinvar/212196 ^@ NM_021734.4(SLC25A19):c.591C>G (p.Ser197Arg) http://identifiers.org/clinvar/212455 ^@ NM_207346.2(TSEN54):c.83C>T (p.Ser28Leu) http://identifiers.org/clinvar/212453 ^@ NM_207346.2(TSEN54):c.370-9C>T http://identifiers.org/clinvar/212454 ^@ NM_207346.2(TSEN54):c.819delG (p.Val275Trpfs) http://identifiers.org/clinvar/212449 ^@ NM_207346.2(TSEN54):c.1057C>T (p.Arg353Trp) http://identifiers.org/clinvar/212450 ^@ NM_207346.2(TSEN54):c.1167G>C (p.Gln389His) http://identifiers.org/clinvar/212451 ^@ NM_207346.2(TSEN54):c.1386_1387insTA (p.Lys463Terfs) http://identifiers.org/clinvar/212452 ^@ NM_207346.2(TSEN54):c.1397dupC (p.Gly467Trpfs) http://identifiers.org/clinvar/210094 ^@ NM_001614.3(ACTG1):c.714G>A (p.Lys238=) http://identifiers.org/clinvar/210093 ^@ NM_001614.3(ACTG1):c.519C>T (p.His173=) http://identifiers.org/clinvar/210095 ^@ NM_001614.3(ACTG1):c.81C>T (p.Pro27=) http://identifiers.org/clinvar/210092 ^@ NM_001614.3(ACTG1):c.15C>T (p.Ile5=) http://identifiers.org/clinvar/210793 ^@ NM_025099.5(CTC1):c.*3198G>T http://identifiers.org/clinvar/210794 ^@ NM_025099.5(CTC1):c.2192G>A (p.Arg731Gln) http://identifiers.org/clinvar/210797 ^@ NM_025099.5(CTC1):c.695G>A (p.Arg232Gln) http://identifiers.org/clinvar/210796 ^@ NM_025099.5(CTC1):c.477G>T (p.Leu159=) http://identifiers.org/clinvar/210795 ^@ NM_025099.5(CTC1):c.248G>C (p.Ser83Thr) http://identifiers.org/clinvar/210248 ^@ NM_173728.3(ARHGEF15):c.1260+4G>A http://identifiers.org/clinvar/211906 ^@ NM_001142633.2(PIK3R5):c.2557C>T (p.Pro853Ser) http://identifiers.org/clinvar/211907 ^@ NM_001142633.2(PIK3R5):c.583A>G (p.Thr195Ala) http://identifiers.org/clinvar/210103 ^@ NM_006796.2(AFG3L2):c.2062C>G (p.Pro688Ala) http://identifiers.org/clinvar/211063 ^@ NM_005257.5(GATA6):c.1087C>T (p.Gln363Ter) http://identifiers.org/clinvar/211064 ^@ NM_005257.5(GATA6):c.1375G>A (p.Ala459Thr) http://identifiers.org/clinvar/212018 ^@ NM_002894.2(RBBP8):c.109+6A>G http://identifiers.org/clinvar/212022 ^@ NM_002894.2(RBBP8):c.553C>G (p.Arg185Gly) http://identifiers.org/clinvar/212023 ^@ NM_002894.2(RBBP8):c.592G>A (p.Val198Met) http://identifiers.org/clinvar/212024 ^@ NM_002894.2(RBBP8):c.871A>G (p.Lys291Glu) http://identifiers.org/clinvar/212025 ^@ NM_002894.2(RBBP8):c.946C>T (p.Pro316Ser) http://identifiers.org/clinvar/212019 ^@ NM_002894.2(RBBP8):c.1812+6T>A http://identifiers.org/clinvar/212020 ^@ NM_002894.2(RBBP8):c.1902T>C (p.Cys634=) http://identifiers.org/clinvar/212021 ^@ NM_002894.2(RBBP8):c.2455-4T>G http://identifiers.org/clinvar/211683 ^@ NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) http://identifiers.org/clinvar/210364 ^@ NM_030632.2(ASXL3):c.1192_1195delACAG (p.Thr398Profs) http://identifiers.org/clinvar/210365 ^@ NM_030632.2(ASXL3):c.1454A>G (p.Asn485Ser) http://identifiers.org/clinvar/210366 ^@ NM_030632.2(ASXL3):c.1654C>T (p.His552Tyr) http://identifiers.org/clinvar/210367 ^@ NM_030632.2(ASXL3):c.1707C>T (p.Thr569=) http://identifiers.org/clinvar/210368 ^@ NM_030632.2(ASXL3):c.1925C>T (p.Pro642Leu) http://identifiers.org/clinvar/210369 ^@ NM_030632.2(ASXL3):c.2342C>T (p.Pro781Leu) http://identifiers.org/clinvar/210370 ^@ NM_030632.2(ASXL3):c.2457T>C (p.Ala819=) http://identifiers.org/clinvar/210371 ^@ NM_030632.2(ASXL3):c.6312C>A (p.Asp2104Glu) http://identifiers.org/clinvar/212152 ^@ NM_015559.2(SETBP1):c.1821delC (p.Ser608Alafs) http://identifiers.org/clinvar/211178 ^@ NM_016097.4(IER3IP1):c.170G>A (p.Arg57Gln) http://identifiers.org/clinvar/212379 ^@ NM_001083962.1(TCF4):c.1965dupC (p.Gly656Argfs) http://identifiers.org/clinvar/212378 ^@ NM_001083962.1(TCF4):c.1871A>C (p.Gln624Pro) http://identifiers.org/clinvar/212377 ^@ NM_001083962.1(TCF4):c.1411C>T (p.Gln471Ter) http://identifiers.org/clinvar/212376 ^@ NM_001083962.1(TCF4):c.1354G>A (p.Gly452Arg) http://identifiers.org/clinvar/212382 ^@ NM_001083962.1(TCF4):c.726G>A (p.Leu242=) http://identifiers.org/clinvar/212381 ^@ NM_001083962.1(TCF4):c.655+2_655+3insGT http://identifiers.org/clinvar/212380 ^@ NM_001083962.1(TCF4):c.420G>A (p.Ser140=) http://identifiers.org/clinvar/211443 ^@ NM_005912.2(MC4R):c.972C>T (p.Gly324=) http://identifiers.org/clinvar/211442 ^@ NM_005912.2(MC4R):c.206T>G (p.Ile69Arg) http://identifiers.org/clinvar/212085 ^@ NM_173630.3(RTTN):c.6015C>T (p.Ala2005=) http://identifiers.org/clinvar/212084 ^@ NM_173630.3(RTTN):c.5883G>A (p.Leu1961=) http://identifiers.org/clinvar/212083 ^@ NM_173630.3(RTTN):c.5200T>G (p.Ser1734Ala) http://identifiers.org/clinvar/212081 ^@ NM_173630.3(RTTN):c.2881A>G (p.Met961Val) http://identifiers.org/clinvar/212080 ^@ NM_173630.3(RTTN):c.2581+7T>G http://identifiers.org/clinvar/212078 ^@ NM_173630.3(RTTN):c.2355T>C (p.Ser785=) http://identifiers.org/clinvar/212077 ^@ NM_173630.3(RTTN):c.2183A>C (p.Asp728Ala) http://identifiers.org/clinvar/212076 ^@ NM_173630.3(RTTN):c.1330G>A (p.Gly444Arg) http://identifiers.org/clinvar/212087 ^@ NM_173630.3(RTTN):c.998C>T (p.Ala333Val) http://identifiers.org/clinvar/212086 ^@ NM_173630.3(RTTN):c.640A>G (p.Ile214Val) http://identifiers.org/clinvar/212082 ^@ NM_173630.3(RTTN):c.330T>A (p.Asp110Glu) http://identifiers.org/clinvar/212079 ^@ NM_173630.3(RTTN):c.257C>T (p.Ala86Val) http://identifiers.org/clinvar/212656 ^@ NM_017757.2(ZNF407):c.1184T>G (p.Leu395Trp) http://identifiers.org/clinvar/212657 ^@ NM_017757.2(ZNF407):c.1296C>T (p.Ser432=) http://identifiers.org/clinvar/212658 ^@ NM_017757.2(ZNF407):c.1530C>T (p.Asp510=) http://identifiers.org/clinvar/212659 ^@ NM_017757.2(ZNF407):c.1908C>T (p.Thr636=) http://identifiers.org/clinvar/212660 ^@ NM_017757.2(ZNF407):c.2235C>T (p.Ser745=) http://identifiers.org/clinvar/212661 ^@ NM_017757.2(ZNF407):c.2775G>T (p.Gly925=) http://identifiers.org/clinvar/212662 ^@ NM_017757.2(ZNF407):c.2822T>C (p.Met941Thr) http://identifiers.org/clinvar/212663 ^@ NM_017757.2(ZNF407):c.2903C>T (p.Ala968Val) http://identifiers.org/clinvar/212664 ^@ NM_017757.2(ZNF407):c.3072T>G (p.Phe1024Leu) http://identifiers.org/clinvar/212665 ^@ NM_017757.2(ZNF407):c.3153C>T (p.Cys1051=) http://identifiers.org/clinvar/212666 ^@ NM_017757.2(ZNF407):c.3586A>G (p.Ser1196Gly) http://identifiers.org/clinvar/212667 ^@ NM_017757.2(ZNF407):c.3902C>T (p.Pro1301Leu) http://identifiers.org/clinvar/212668 ^@ NM_017757.2(ZNF407):c.3974C>G (p.Pro1325Arg) http://identifiers.org/clinvar/212669 ^@ NM_017757.2(ZNF407):c.4010A>G (p.Tyr1337Cys) http://identifiers.org/clinvar/212670 ^@ NM_017757.2(ZNF407):c.4278G>A (p.Leu1426=) http://identifiers.org/clinvar/212671 ^@ NM_017757.2(ZNF407):c.4662C>T (p.Phe1554=) http://identifiers.org/clinvar/212672 ^@ NM_017757.2(ZNF407):c.5085C>G (p.Gly1695=) http://identifiers.org/clinvar/212673 ^@ NM_017757.2(ZNF407):c.5334T>C (p.Cys1778=) http://identifiers.org/clinvar/212674 ^@ NM_017757.2(ZNF407):c.5589G>A (p.Val1863=) http://identifiers.org/clinvar/212675 ^@ NM_017757.2(ZNF407):c.5631C>T (p.Ala1877=) http://identifiers.org/clinvar/212676 ^@ NM_017757.2(ZNF407):c.6007G>A (p.Glu2003Lys) http://identifiers.org/clinvar/212677 ^@ NM_017757.2(ZNF407):c.6042C>T (p.Pro2014=) http://identifiers.org/clinvar/212678 ^@ NM_017757.2(ZNF407):c.6077A>G (p.Gln2026Arg) http://identifiers.org/clinvar/212679 ^@ NM_017757.2(ZNF407):c.6153C>T (p.Ala2051=) http://identifiers.org/clinvar/212680 ^@ NM_017757.2(ZNF407):c.6301G>A (p.Gly2101Ser) http://identifiers.org/clinvar/212681 ^@ NM_017757.2(ZNF407):c.6697G>A (p.Ala2233Thr) http://identifiers.org/clinvar/210803 ^@ NM_004715.4(CTDP1):c.2274G>A (p.Pro758=) http://identifiers.org/clinvar/210855 ^@ NM_001005360.2(DNM2):c.590-18_590-12dup http://identifiers.org/clinvar/210854 ^@ NM_001005360.2(DNM2):c.1973A>G (p.Asn658Ser) http://identifiers.org/clinvar/212233 ^@ NM_001128849.1(SMARCA4):c.120C>T (p.His40=) http://identifiers.org/clinvar/212239 ^@ NM_001128849.1(SMARCA4):c.223-5C>T http://identifiers.org/clinvar/212260 ^@ NM_001128849.1(SMARCA4):c.708T>C (p.Pro236=) http://identifiers.org/clinvar/212261 ^@ NM_001128849.1(SMARCA4):c.791G>C (p.Gly264Ala) http://identifiers.org/clinvar/212262 ^@ NM_001128849.1(SMARCA4):c.981A>C (p.Pro327=) http://identifiers.org/clinvar/212232 ^@ NM_001128849.1(SMARCA4):c.1140C>T (p.His380=) http://identifiers.org/clinvar/212234 ^@ NM_001128849.1(SMARCA4):c.1236C>T (p.Phe412=) http://identifiers.org/clinvar/212235 ^@ NM_001128849.1(SMARCA4):c.1287G>A (p.Ala429=) http://identifiers.org/clinvar/212236 ^@ NM_001128849.1(SMARCA4):c.1419+7T>C http://identifiers.org/clinvar/212237 ^@ NM_001128849.1(SMARCA4):c.1791T>G (p.Pro597=) http://identifiers.org/clinvar/212238 ^@ NM_001128849.1(SMARCA4):c.2001+8T>G http://identifiers.org/clinvar/212240 ^@ NM_001128849.1(SMARCA4):c.2275-3C>A http://identifiers.org/clinvar/212241 ^@ NM_001128849.1(SMARCA4):c.2438+10C>T http://identifiers.org/clinvar/212242 ^@ NM_001128849.1(SMARCA4):c.2460C>T (p.Tyr820=) http://identifiers.org/clinvar/212243 ^@ NM_001128849.1(SMARCA4):c.2757C>T (p.Pro919=) http://identifiers.org/clinvar/212244 ^@ NM_001128849.1(SMARCA4):c.2893_2895delATC (p.Ile965del) http://identifiers.org/clinvar/212245 ^@ NM_001128849.1(SMARCA4):c.2922delC (p.Phe975Serfs) http://identifiers.org/clinvar/212246 ^@ NM_001128849.1(SMARCA4):c.2936G>A (p.Arg979Gln) http://identifiers.org/clinvar/212247 ^@ NM_001128849.1(SMARCA4):c.2967C>T (p.Pro989=) http://identifiers.org/clinvar/212248 ^@ NM_001128849.1(SMARCA4):c.3045C>T (p.Gly1015=) http://identifiers.org/clinvar/212249 ^@ NM_001128849.1(SMARCA4):c.3480dupG (p.Leu1161Alafs) http://identifiers.org/clinvar/212250 ^@ NM_001128849.1(SMARCA4):c.3732C>T (p.Arg1244=) http://identifiers.org/clinvar/212251 ^@ NM_001128849.1(SMARCA4):c.3734C>G (p.Ala1245Gly) http://identifiers.org/clinvar/212252 ^@ NM_001128849.1(SMARCA4):c.3783C>G (p.His1261Gln) http://identifiers.org/clinvar/212253 ^@ NM_001128849.1(SMARCA4):c.3830C>T (p.Pro1277Leu) http://identifiers.org/clinvar/212254 ^@ NM_001128849.1(SMARCA4):c.3975C>T (p.Arg1325=) http://identifiers.org/clinvar/212255 ^@ NM_001128849.1(SMARCA4):c.4152G>A (p.Thr1384=) http://identifiers.org/clinvar/212256 ^@ NM_001128849.1(SMARCA4):c.4174A>G (p.Ile1392Val) http://identifiers.org/clinvar/212257 ^@ NM_001128849.1(SMARCA4):c.4510T>G (p.Tyr1504Asp) http://identifiers.org/clinvar/212258 ^@ NM_001128849.1(SMARCA4):c.4763delT (p.Val1588Alafs) http://identifiers.org/clinvar/212259 ^@ NM_001128849.1(SMARCA4):c.4864+10G>A http://identifiers.org/clinvar/211592 ^@ NM_002501.3(NFIX):c.876C>A (p.Asp292Glu) http://identifiers.org/clinvar/211593 ^@ NM_002501.3(NFIX):c.970_971delAA (p.Lys324Glufs) http://identifiers.org/clinvar/211591 ^@ NM_002501.3(NFIX):c.1080_1096del17 (p.Ser361Ilefs) http://identifiers.org/clinvar/210557 ^@ NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) http://identifiers.org/clinvar/210556 ^@ NM_001127221.1(CACNA1A):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/210602 ^@ NM_017721.4(CC2D1A):c.250C>T (p.Pro84Ser) http://identifiers.org/clinvar/210605 ^@ NM_017721.4(CC2D1A):c.657G>C (p.Ala219=) http://identifiers.org/clinvar/210606 ^@ NM_017721.4(CC2D1A):c.696T>G (p.Ser232=) http://identifiers.org/clinvar/210607 ^@ NM_017721.4(CC2D1A):c.997G>A (p.Ala333Thr) http://identifiers.org/clinvar/210590 ^@ NM_017721.4(CC2D1A):c.1234A>G (p.Ile412Val) http://identifiers.org/clinvar/210591 ^@ NM_017721.4(CC2D1A):c.1379C>T (p.Thr460Ile) http://identifiers.org/clinvar/210592 ^@ NM_017721.4(CC2D1A):c.1388C>T (p.Pro463Leu) http://identifiers.org/clinvar/210593 ^@ NM_017721.4(CC2D1A):c.1424C>T (p.Ser475Leu) http://identifiers.org/clinvar/210594 ^@ NM_017721.4(CC2D1A):c.1448C>A (p.Pro483His) http://identifiers.org/clinvar/210595 ^@ NM_017721.4(CC2D1A):c.1561A>G (p.Lys521Glu) http://identifiers.org/clinvar/210596 ^@ NM_017721.4(CC2D1A):c.1941-6C>T http://identifiers.org/clinvar/210597 ^@ NM_017721.4(CC2D1A):c.1974C>T (p.Leu658=) http://identifiers.org/clinvar/210598 ^@ NM_017721.4(CC2D1A):c.2048G>A (p.Arg683Gln) http://identifiers.org/clinvar/210599 ^@ NM_017721.4(CC2D1A):c.2125+18G>A http://identifiers.org/clinvar/210600 ^@ NM_017721.4(CC2D1A):c.2342G>C (p.Gly781Ala) http://identifiers.org/clinvar/210601 ^@ NM_017721.4(CC2D1A):c.2441C>T (p.Ala814Val) http://identifiers.org/clinvar/210603 ^@ NM_017721.4(CC2D1A):c.2728G>A (p.Glu910Lys) http://identifiers.org/clinvar/210604 ^@ NM_017721.4(CC2D1A):c.2764C>T (p.Arg922Cys) http://identifiers.org/clinvar/211060 ^@ NM_000156.5(GAMT):c.217A>G (p.Ile73Val) http://identifiers.org/clinvar/212393 ^@ NM_138501.5(TECR):c.16-15G>A http://identifiers.org/clinvar/212394 ^@ NM_138501.5(TECR):c.177G>A (p.Leu59=) http://identifiers.org/clinvar/212395 ^@ NM_138501.5(TECR):c.606+7A>C http://identifiers.org/clinvar/212396 ^@ NM_138501.5(TECR):c.813C>T (p.Ser271=) http://identifiers.org/clinvar/212397 ^@ NM_138501.5(TECR):c.873G>A (p.Lys291=) http://identifiers.org/clinvar/210552 ^@ NM_001031726.3(C19orf12):c.258_259delGAinsTGGAGGAACAGT (p.Gln86Hisfs) http://identifiers.org/clinvar/210652 ^@ NM_004364.4(CEBPA):c.584_589dupACCCGC (p.Pro196_Pro197insHisPro) http://identifiers.org/clinvar/212602 ^@ NM_001083961.1(WDR62):c.269+12delA http://identifiers.org/clinvar/212606 ^@ NM_001083961.1(WDR62):c.413G>A (p.Arg138His) http://identifiers.org/clinvar/212609 ^@ NM_001083961.1(WDR62):c.656G>A (p.Arg219His) http://identifiers.org/clinvar/212597 ^@ NM_001083961.1(WDR62):c.1233+15delC http://identifiers.org/clinvar/212598 ^@ NM_001083961.1(WDR62):c.1359C>T (p.Asn453=) http://identifiers.org/clinvar/212599 ^@ NM_001083961.1(WDR62):c.1509C>T (p.Asp503=) http://identifiers.org/clinvar/212600 ^@ NM_001083961.1(WDR62):c.1667G>T (p.Ser556Ile) http://identifiers.org/clinvar/212601 ^@ NM_001083961.1(WDR62):c.2057C>T (p.Thr686Ile) http://identifiers.org/clinvar/212603 ^@ NM_001083961.1(WDR62):c.3348delC (p.Phe1117Serfs) http://identifiers.org/clinvar/212604 ^@ NM_001083961.1(WDR62):c.3612C>T (p.Gly1204=) http://identifiers.org/clinvar/212605 ^@ NM_001083961.1(WDR62):c.3818C>T (p.Thr1273Ile) http://identifiers.org/clinvar/212607 ^@ NM_001083961.1(WDR62):c.4187G>A (p.Arg1396His) http://identifiers.org/clinvar/212608 ^@ NM_001083961.1(WDR62):c.4564G>A (p.Gly1522Arg) http://identifiers.org/clinvar/212104 ^@ NM_000540.2(RYR1):c.619C>T (p.Arg207Cys) http://identifiers.org/clinvar/212091 ^@ NM_000540.2(RYR1):c.1186_1187delGAinsTC (p.Glu396Ser) http://identifiers.org/clinvar/212096 ^@ NM_000540.2(RYR1):c.1589G>T (p.Arg530Leu) http://identifiers.org/clinvar/212097 ^@ NM_000540.2(RYR1):c.1792-8A>T http://identifiers.org/clinvar/212098 ^@ NM_000540.2(RYR1):c.1878_1882delTGGCC (p.Gly627Terfs) http://identifiers.org/clinvar/212099 ^@ NM_000540.2(RYR1):c.2505delG (p.Pro836Leufs) http://identifiers.org/clinvar/212100 ^@ NM_000540.2(RYR1):c.2654G>A (p.Arg885His) http://identifiers.org/clinvar/212101 ^@ NM_000540.2(RYR1):c.2658C>T (p.Ile886=) http://identifiers.org/clinvar/212102 ^@ NM_000540.2(RYR1):c.3235_3240dupTCCTAT (p.Tyr1080_Thr1081insSerTyr) http://identifiers.org/clinvar/212103 ^@ NM_000540.2(RYR1):c.3381+1G>A http://identifiers.org/clinvar/212105 ^@ NM_000540.2(RYR1):c.7204C>T (p.Arg2402Trp) http://identifiers.org/clinvar/212106 ^@ NM_000540.2(RYR1):c.8598C>T (p.Thr2866=) http://identifiers.org/clinvar/212107 ^@ NM_000540.2(RYR1):c.8724C>A (p.Tyr2908Ter) http://identifiers.org/clinvar/212090 ^@ NM_000540.2(RYR1):c.10018+7C>T http://identifiers.org/clinvar/212092 ^@ NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) http://identifiers.org/clinvar/212093 ^@ NM_000540.2(RYR1):c.13122G>A (p.Val4374=) http://identifiers.org/clinvar/212094 ^@ NM_000540.2(RYR1):c.13768G>A (p.Glu4590Lys) http://identifiers.org/clinvar/212095 ^@ NM_000540.2(RYR1):c.14646G>A (p.Thr4882=) http://identifiers.org/clinvar/210115 ^@ NM_001626.5(AKT2):c.573+9C>T http://identifiers.org/clinvar/212065 ^@ NM_001022.3(RPS19):c.411+12G>A http://identifiers.org/clinvar/210383 ^@ NM_152296.4(ATP1A3):c.2401G>C (p.Asp801His) http://identifiers.org/clinvar/210382 ^@ NM_152296.4(ATP1A3):c.1027C>T (p.Arg343Trp) http://identifiers.org/clinvar/212686 ^@ NM_133444.2(ZNF526):c.755_757delAGG (p.Glu252del) http://identifiers.org/clinvar/212687 ^@ NM_133444.2(ZNF526):c.756G>A (p.Glu252=) http://identifiers.org/clinvar/212688 ^@ NM_133444.2(ZNF526):c.796G>A (p.Glu266Lys) http://identifiers.org/clinvar/212682 ^@ NM_133444.2(ZNF526):c.1384C>T (p.Arg462Cys) http://identifiers.org/clinvar/212683 ^@ NM_133444.2(ZNF526):c.1672C>T (p.Arg558Cys) http://identifiers.org/clinvar/212684 ^@ NM_133444.2(ZNF526):c.1758G>A (p.Ala586=) http://identifiers.org/clinvar/212685 ^@ NM_133444.2(ZNF526):c.1870A>G (p.Met624Val) http://identifiers.org/clinvar/211006 ^@ NM_024301.4(FKRP):c.426G>T (p.Glu142Asp) http://identifiers.org/clinvar/211007 ^@ NM_024301.4(FKRP):c.483C>T (p.Ala161=) http://identifiers.org/clinvar/211008 ^@ NM_024301.4(FKRP):c.699G>A (p.Val233=) http://identifiers.org/clinvar/211005 ^@ NM_024301.4(FKRP):c.1140G>A (p.Gly380=) http://identifiers.org/clinvar/211919 ^@ NM_007254.3(PNKP):c.1387-49_1387-33del http://identifiers.org/clinvar/211918 ^@ NM_007254.3(PNKP):c.1284_1298+4dup http://identifiers.org/clinvar/211917 ^@ NM_007254.3(PNKP):c.1052C>G (p.Pro351Arg) http://identifiers.org/clinvar/211923 ^@ NM_007254.3(PNKP):c.741C>T (p.Phe247=) http://identifiers.org/clinvar/211922 ^@ NM_007254.3(PNKP):c.627G>A (p.Glu209=) http://identifiers.org/clinvar/211921 ^@ NM_007254.3(PNKP):c.624C>T (p.Ala208=) http://identifiers.org/clinvar/211920 ^@ NM_007254.3(PNKP):c.498G>A (p.Lys166=) http://identifiers.org/clinvar/211764 ^@ NM_153719.3(NUP62):c.192C>T (p.Thr64=) http://identifiers.org/clinvar/211215 ^@ NM_004977.2(KCNC3):c.2171-2A>C http://identifiers.org/clinvar/211956 ^@ NM_002739.4(PRKCG):c.154T>A (p.Cys52Ser) http://identifiers.org/clinvar/212446 ^@ NM_024075.4(TSEN34):c.268C>G (p.Gln90Glu) http://identifiers.org/clinvar/212447 ^@ NM_024075.4(TSEN34):c.392C>T (p.Ser131Leu) http://identifiers.org/clinvar/212448 ^@ NM_024075.4(TSEN34):c.581C>T (p.Pro194Leu) http://identifiers.org/clinvar/212502 ^@ NM_006087.3(TUBB4A):c.915G>A (p.Pro305=) http://identifiers.org/clinvar/212501 ^@ NM_006087.3(TUBB4A):c.667G>A (p.Gly223Arg) http://identifiers.org/clinvar/211196 ^@ NM_000208.3(INSR):c.2971C>A (p.Leu991Ile) http://identifiers.org/clinvar/211195 ^@ NM_000208.3(INSR):c.2838C>G (p.Asp946Glu) http://identifiers.org/clinvar/211194 ^@ NM_000208.3(INSR):c.2736G>A (p.Arg912=) http://identifiers.org/clinvar/211193 ^@ NM_000208.3(INSR):c.2598C>T (p.Val866=) http://identifiers.org/clinvar/211192 ^@ NM_000208.3(INSR):c.2355G>A (p.Ser785=) http://identifiers.org/clinvar/211191 ^@ NM_000208.3(INSR):c.2293G>A (p.Gly765Ser) http://identifiers.org/clinvar/211190 ^@ NM_000208.3(INSR):c.2243C>T (p.Ser748Leu) http://identifiers.org/clinvar/211189 ^@ NM_000208.3(INSR):c.1610+2T>C http://identifiers.org/clinvar/211188 ^@ NM_000208.3(INSR):c.1084G>A (p.Val362Ile) http://identifiers.org/clinvar/211187 ^@ NM_000208.3(INSR):c.1080C>T (p.Cys360=) http://identifiers.org/clinvar/211200 ^@ NM_000208.3(INSR):c.959C>T (p.Thr320Met) http://identifiers.org/clinvar/211198 ^@ NM_000208.3(INSR):c.687C>T (p.Thr229=) http://identifiers.org/clinvar/211197 ^@ NM_000208.3(INSR):c.653-5_653-4dupTC http://identifiers.org/clinvar/211199 ^@ NM_000208.3(INSR):c.84C>A (p.His28Gln) http://identifiers.org/clinvar/211896 ^@ NM_024411.4(PDYN):c.658_659delTG (p.Trp220Glyfs) http://identifiers.org/clinvar/211895 ^@ NM_024411.4(PDYN):c.583G>A (p.Gly195Arg) http://identifiers.org/clinvar/212055 ^@ NM_018993.3(RIN2):c.84C>T (p.Ile28=) http://identifiers.org/clinvar/212056 ^@ NM_018993.3(RIN2):c.923C>A (p.Pro308Gln) http://identifiers.org/clinvar/212053 ^@ NM_018993.3(RIN2):c.1425C>A (p.Pro475=) http://identifiers.org/clinvar/212054 ^@ NM_018993.3(RIN2):c.1427C>G (p.Pro476Arg) http://identifiers.org/clinvar/212403 ^@ NM_198994.2(TGM6):c.956G>A (p.Arg319Gln) http://identifiers.org/clinvar/212402 ^@ NM_198994.2(TGM6):c.1678+1G>A http://identifiers.org/clinvar/210951 ^@ NM_012156.2(EPB41L1):c.57G>A (p.Pro19=) http://identifiers.org/clinvar/210950 ^@ NM_012156.2(EPB41L1):c.531G>T (p.Pro177=) http://identifiers.org/clinvar/210943 ^@ NM_012156.2(EPB41L1):c.1451C>T (p.Pro484Leu) http://identifiers.org/clinvar/210944 ^@ NM_012156.2(EPB41L1):c.1539G>A (p.Glu513=) http://identifiers.org/clinvar/210945 ^@ NM_012156.2(EPB41L1):c.1643A>G (p.Lys548Arg) http://identifiers.org/clinvar/210946 ^@ NM_012156.2(EPB41L1):c.1661C>A (p.Ala554Asp) http://identifiers.org/clinvar/210947 ^@ NM_012156.2(EPB41L1):c.1772C>T (p.Thr591Met) http://identifiers.org/clinvar/210948 ^@ NM_012156.2(EPB41L1):c.1893C>T (p.Ser631=) http://identifiers.org/clinvar/210949 ^@ NM_012156.2(EPB41L1):c.2332A>G (p.Thr778Ala) http://identifiers.org/clinvar/212369 ^@ NM_144628.3(TBC1D20):c.1143G>A (p.Ala381=) http://identifiers.org/clinvar/212368 ^@ NM_144628.3(TBC1D20):c.1060C>G (p.Arg354Gly) http://identifiers.org/clinvar/212370 ^@ NM_144628.3(TBC1D20):c.766G>A (p.Val256Met) http://identifiers.org/clinvar/211146 ^@ NM_000457.4(HNF4A):c.493-5C>T http://identifiers.org/clinvar/211145 ^@ NM_000457.4(HNF4A):c.1309C>T (p.Pro437Ser) http://identifiers.org/clinvar/210807 ^@ NM_000308.3(CTSA):c.85_110del26ins23 http://identifiers.org/clinvar/212652 ^@ NM_022095.3(ZNF335):c.3843A>G (p.Pro1281=) http://identifiers.org/clinvar/212651 ^@ NM_022095.3(ZNF335):c.3639C>T (p.Thr1213=) http://identifiers.org/clinvar/212650 ^@ NM_022095.3(ZNF335):c.3445A>G (p.Ile1149Val) http://identifiers.org/clinvar/212649 ^@ NM_022095.3(ZNF335):c.2961G>A (p.Gln987=) http://identifiers.org/clinvar/212647 ^@ NM_022095.3(ZNF335):c.2564C>T (p.Ala855Val) http://identifiers.org/clinvar/212646 ^@ NM_022095.3(ZNF335):c.2515_2518dupGCCA (p.Thr840Serfs) http://identifiers.org/clinvar/212645 ^@ NM_022095.3(ZNF335):c.2460G>A (p.Ser820=) http://identifiers.org/clinvar/212644 ^@ NM_022095.3(ZNF335):c.2171_2173delTCT (p.Phe724del) http://identifiers.org/clinvar/212643 ^@ NM_022095.3(ZNF335):c.1963C>T (p.Pro655Ser) http://identifiers.org/clinvar/212642 ^@ NM_022095.3(ZNF335):c.1664C>T (p.Pro555Leu) http://identifiers.org/clinvar/212655 ^@ NM_022095.3(ZNF335):c.825C>T (p.Ala275=) http://identifiers.org/clinvar/212654 ^@ NM_022095.3(ZNF335):c.648G>A (p.Pro216=) http://identifiers.org/clinvar/212653 ^@ NM_022095.3(ZNF335):c.593A>G (p.Asp198Gly) http://identifiers.org/clinvar/212648 ^@ NM_022095.3(ZNF335):c.293G>A (p.Gly98Glu) http://identifiers.org/clinvar/210226 ^@ NM_006420.2(ARFGEF2):c.172C>T (p.Pro58Ser) http://identifiers.org/clinvar/210244 ^@ NM_006420.2(ARFGEF2):c.493A>G (p.Thr165Ala) http://identifiers.org/clinvar/210246 ^@ NM_006420.2(ARFGEF2):c.808G>A (p.Ala270Thr) http://identifiers.org/clinvar/210247 ^@ NM_006420.2(ARFGEF2):c.898G>C (p.Ala300Pro) http://identifiers.org/clinvar/210224 ^@ NM_006420.2(ARFGEF2):c.1185C>T (p.Asp395=) http://identifiers.org/clinvar/210225 ^@ NM_006420.2(ARFGEF2):c.1512G>A (p.Thr504=) http://identifiers.org/clinvar/210227 ^@ NM_006420.2(ARFGEF2):c.1775-9del http://identifiers.org/clinvar/210228 ^@ NM_006420.2(ARFGEF2):c.1888G>A (p.Val630Ile) http://identifiers.org/clinvar/210229 ^@ NM_006420.2(ARFGEF2):c.1979G>A (p.Arg660Lys) http://identifiers.org/clinvar/210230 ^@ NM_006420.2(ARFGEF2):c.2015G>A (p.Gly672Glu) http://identifiers.org/clinvar/210231 ^@ NM_006420.2(ARFGEF2):c.2253A>G (p.Ala751=) http://identifiers.org/clinvar/210232 ^@ NM_006420.2(ARFGEF2):c.2276+6C>T http://identifiers.org/clinvar/210233 ^@ NM_006420.2(ARFGEF2):c.2814+15G>C http://identifiers.org/clinvar/210234 ^@ NM_006420.2(ARFGEF2):c.3177G>T (p.Ser1059=) http://identifiers.org/clinvar/210235 ^@ NM_006420.2(ARFGEF2):c.3275G>A (p.Arg1092His) http://identifiers.org/clinvar/210236 ^@ NM_006420.2(ARFGEF2):c.3707A>C (p.His1236Pro) http://identifiers.org/clinvar/210237 ^@ NM_006420.2(ARFGEF2):c.3758-3del http://identifiers.org/clinvar/210238 ^@ NM_006420.2(ARFGEF2):c.3843C>T (p.Ala1281=) http://identifiers.org/clinvar/210239 ^@ NM_006420.2(ARFGEF2):c.3892G>A (p.Gly1298Ser) http://identifiers.org/clinvar/210240 ^@ NM_006420.2(ARFGEF2):c.3961G>A (p.Gly1321Ser) http://identifiers.org/clinvar/210241 ^@ NM_006420.2(ARFGEF2):c.4332G>A (p.Ala1444=) http://identifiers.org/clinvar/210242 ^@ NM_006420.2(ARFGEF2):c.4557C>T (p.Pro1519=) http://identifiers.org/clinvar/210243 ^@ NM_006420.2(ARFGEF2):c.4812G>A (p.Lys1604=) http://identifiers.org/clinvar/210245 ^@ NM_006420.2(ARFGEF2):c.5064-4C>G http://identifiers.org/clinvar/211089 ^@ NM_000516.5(GNAS):c.138G>A (p.Leu46=) http://identifiers.org/clinvar/211236 ^@ NM_172107.3(KCNQ2):c.913_915delTTC (p.Phe305del) http://identifiers.org/clinvar/211235 ^@ NM_172107.3(KCNQ2):c.704C>T (p.Ala235Val) http://identifiers.org/clinvar/211234 ^@ NM_172107.3(KCNQ2):c.693G>T (p.Glu231Asp) http://identifiers.org/clinvar/211233 ^@ NM_172107.3(KCNQ2):c.388-9C>G http://identifiers.org/clinvar/212073 ^@ NM_032957.4(RTEL1):c.2618G>A (p.Gly873Asp) http://identifiers.org/clinvar/212074 ^@ NM_032957.4(RTEL1):c.2924-33G>C http://identifiers.org/clinvar/212075 ^@ NM_032957.4(RTEL1):c.3687C>T (p.Ser1229=) http://identifiers.org/clinvar/211913 ^@ NM_015192.3(PLCB1):c.3643C>T (p.Pro1215Ser) http://identifiers.org/clinvar/212089 ^@ NM_001754.4(RUNX1):c.557T>A (p.Val186Asp) http://identifiers.org/clinvar/212088 ^@ NM_001754.4(RUNX1):c.183G>A (p.Pro61=) http://identifiers.org/clinvar/210895 ^@ NM_001396.3(DYRK1A):c.327+7C>T http://identifiers.org/clinvar/210896 ^@ NM_001396.3(DYRK1A):c.453C>T (p.Asn151=) http://identifiers.org/clinvar/210897 ^@ NM_001396.3(DYRK1A):c.516+9A>G http://identifiers.org/clinvar/210898 ^@ NM_001396.3(DYRK1A):c.922T>G (p.Phe308Val) http://identifiers.org/clinvar/210890 ^@ NM_001396.4(DYRK1A):c.1298_1299insT (p.Pro434Thrfs) http://identifiers.org/clinvar/210891 ^@ NM_001396.3(DYRK1A):c.1530T>C (p.Ser510=) http://identifiers.org/clinvar/210892 ^@ NM_001396.3(DYRK1A):c.1536G>A (p.Ser512=) http://identifiers.org/clinvar/210893 ^@ NM_001396.3(DYRK1A):c.2035G>C (p.Ala679Pro) http://identifiers.org/clinvar/210894 ^@ NM_001396.3(DYRK1A):c.2215A>G (p.Met739Val) http://identifiers.org/clinvar/210745 ^@ NM_001848.2(COL6A1):c.1003-2A>G http://identifiers.org/clinvar/210746 ^@ NM_001848.2(COL6A1):c.2573G>A (p.Arg858His) http://identifiers.org/clinvar/210750 ^@ NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg) http://identifiers.org/clinvar/210748 ^@ NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) http://identifiers.org/clinvar/210749 ^@ NM_001849.3(COL6A2):c.2761G>T (p.Val921Leu) http://identifiers.org/clinvar/211842 ^@ NM_006031.5(PCNT):c.142G>C (p.Ala48Pro) http://identifiers.org/clinvar/211845 ^@ NM_006031.5(PCNT):c.175G>A (p.Glu59Lys) http://identifiers.org/clinvar/211852 ^@ NM_006031.5(PCNT):c.321G>T (p.Lys107Asn) http://identifiers.org/clinvar/211860 ^@ NM_006031.5(PCNT):c.442_519del78 (p.Val148_Thr173del) http://identifiers.org/clinvar/211862 ^@ NM_006031.5(PCNT):c.467_505dup39 (p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProProGluGln) http://identifiers.org/clinvar/211841 ^@ NM_006031.5(PCNT):c.1224G>A (p.Leu408=) http://identifiers.org/clinvar/211843 ^@ NM_006031.5(PCNT):c.1457-5T>A http://identifiers.org/clinvar/211844 ^@ NM_006031.5(PCNT):c.1714_1717delAAAG (p.Lys572Glufs) http://identifiers.org/clinvar/211846 ^@ NM_006031.5(PCNT):c.1943C>G (p.Pro648Arg) http://identifiers.org/clinvar/211847 ^@ NM_006031.5(PCNT):c.2154+8G>A http://identifiers.org/clinvar/211848 ^@ NM_006031.5(PCNT):c.2575G>A (p.Asp859Asn) http://identifiers.org/clinvar/211849 ^@ NM_006031.5(PCNT):c.2833C>T (p.Arg945Cys) http://identifiers.org/clinvar/211850 ^@ NM_006031.5(PCNT):c.2865C>T (p.Ala955=) http://identifiers.org/clinvar/211851 ^@ NM_006031.5(PCNT):c.2866G>A (p.Asp956Asn) http://identifiers.org/clinvar/211853 ^@ NM_006031.5(PCNT):c.3403C>A (p.Arg1135=) http://identifiers.org/clinvar/211854 ^@ NM_006031.5(PCNT):c.3550G>A (p.Gly1184Arg) http://identifiers.org/clinvar/211855 ^@ NM_006031.5(PCNT):c.3571C>T (p.Leu1191=) http://identifiers.org/clinvar/211856 ^@ NM_006031.5(PCNT):c.3710A>G (p.His1237Arg) http://identifiers.org/clinvar/211857 ^@ NM_006031.5(PCNT):c.4140G>A (p.Ala1380=) http://identifiers.org/clinvar/211858 ^@ NM_006031.5(PCNT):c.4216+9C>T http://identifiers.org/clinvar/211859 ^@ NM_006031.5(PCNT):c.4351C>T (p.Arg1451Cys) http://identifiers.org/clinvar/211861 ^@ NM_006031.5(PCNT):c.4625A>C (p.Glu1542Ala) http://identifiers.org/clinvar/211863 ^@ NM_006031.5(PCNT):c.4687G>C (p.Glu1563Gln) http://identifiers.org/clinvar/211864 ^@ NM_006031.5(PCNT):c.4938_4939delAG (p.Arg1646Serfs) http://identifiers.org/clinvar/211865 ^@ NM_006031.5(PCNT):c.5543A>G (p.Glu1848Gly) http://identifiers.org/clinvar/211866 ^@ NM_006031.5(PCNT):c.5705G>A (p.Arg1902His) http://identifiers.org/clinvar/211867 ^@ NM_006031.5(PCNT):c.5940C>T (p.Gly1980=) http://identifiers.org/clinvar/211868 ^@ NM_006031.5(PCNT):c.5954C>T (p.Ser1985Phe) http://identifiers.org/clinvar/211869 ^@ NM_006031.5(PCNT):c.6080A>G (p.Gln2027Arg) http://identifiers.org/clinvar/211870 ^@ NM_006031.5(PCNT):c.6141C>T (p.Asp2047=) http://identifiers.org/clinvar/211871 ^@ NM_006031.5(PCNT):c.6150+3G>A http://identifiers.org/clinvar/211872 ^@ NM_006031.5(PCNT):c.6277G>A (p.Asp2093Asn) http://identifiers.org/clinvar/211873 ^@ NM_006031.5(PCNT):c.6651G>T (p.Gly2217=) http://identifiers.org/clinvar/211874 ^@ NM_006031.5(PCNT):c.6819G>A (p.Gly2273=) http://identifiers.org/clinvar/211875 ^@ NM_006031.5(PCNT):c.6822G>A (p.Pro2274=) http://identifiers.org/clinvar/211876 ^@ NM_006031.5(PCNT):c.6933C>T (p.Val2311=) http://identifiers.org/clinvar/211877 ^@ NM_006031.5(PCNT):c.7104T>C (p.Pro2368=) http://identifiers.org/clinvar/211878 ^@ NM_006031.5(PCNT):c.7259C>T (p.Pro2420Leu) http://identifiers.org/clinvar/211879 ^@ NM_006031.5(PCNT):c.7332C>T (p.Thr2444=) http://identifiers.org/clinvar/211880 ^@ NM_006031.5(PCNT):c.7424G>A (p.Arg2475Gln) http://identifiers.org/clinvar/211881 ^@ NM_006031.5(PCNT):c.7454G>T (p.Ser2485Ile) http://identifiers.org/clinvar/211882 ^@ NM_006031.5(PCNT):c.7459C>G (p.Leu2487Val) http://identifiers.org/clinvar/211883 ^@ NM_006031.5(PCNT):c.7833C>T (p.Ser2611=) http://identifiers.org/clinvar/211884 ^@ NM_006031.5(PCNT):c.8284C>T (p.Arg2762Trp) http://identifiers.org/clinvar/211885 ^@ NM_006031.5(PCNT):c.8646G>C (p.Leu2882Phe) http://identifiers.org/clinvar/211886 ^@ NM_006031.5(PCNT):c.8659G>A (p.Gly2887Arg) http://identifiers.org/clinvar/211887 ^@ NM_006031.5(PCNT):c.8820C>A (p.Asp2940Glu) http://identifiers.org/clinvar/211888 ^@ NM_006031.5(PCNT):c.9028A>G (p.Lys3010Glu) http://identifiers.org/clinvar/211889 ^@ NM_006031.5(PCNT):c.9293G>T (p.Trp3098Leu) http://identifiers.org/clinvar/211890 ^@ NM_006031.5(PCNT):c.9332G>A (p.Arg3111His) http://identifiers.org/clinvar/211891 ^@ NM_006031.5(PCNT):c.9618A>G (p.Ile3206Met) http://identifiers.org/clinvar/211892 ^@ NM_006031.5(PCNT):c.9886T>C (p.Ser3296Pro) http://identifiers.org/clinvar/212263 ^@ NM_003073.4(SMARCB1):c.1087A>G (p.Lys363Glu) http://identifiers.org/clinvar/211152 ^@ NM_022081.5(HPS4):c.2079C>T (p.Ser693=) http://identifiers.org/clinvar/211151 ^@ NM_022081.5(HPS4):c.1715A>G (p.Tyr572Cys) http://identifiers.org/clinvar/211154 ^@ NM_022081.5(HPS4):c.888C>T (p.Asn296=) http://identifiers.org/clinvar/211153 ^@ NM_022081.5(HPS4):c.250A>G (p.Ile84Val) http://identifiers.org/clinvar/210844 ^@ NM_001242896.1(DEPDC5):c.298G>A (p.Val100Met) http://identifiers.org/clinvar/210845 ^@ NM_001242896.1(DEPDC5):c.3158G>T (p.Cys1053Phe) http://identifiers.org/clinvar/210846 ^@ NM_001242896.1(DEPDC5):c.3311C>T (p.Ser1104Leu) http://identifiers.org/clinvar/211370 ^@ NM_004737.5(LARGE1):c.2213T>C (p.Met738Thr) http://identifiers.org/clinvar/211369 ^@ NM_004737.5(LARGE1):c.1599C>T (p.Ile533=) http://identifiers.org/clinvar/210559 ^@ NM_006078.3(CACNG2):c.437-7C>A http://identifiers.org/clinvar/211908 ^@ NM_003560.2(PLA2G6):c.*19C>T http://identifiers.org/clinvar/211910 ^@ NM_003560.2(PLA2G6):c.2417C>G (p.Pro806Arg) http://identifiers.org/clinvar/211912 ^@ NM_003560.2(PLA2G6):c.2364C>T (p.Tyr788=) http://identifiers.org/clinvar/211909 ^@ NM_003560.2(PLA2G6):c.1349-2A>G http://identifiers.org/clinvar/211911 ^@ NM_003560.2(PLA2G6):c.945_947dupCGC (p.Ala316_Gly317insAla) http://identifiers.org/clinvar/210942 ^@ NM_001429.3(EP300):c.907-18_907-9del http://identifiers.org/clinvar/210937 ^@ NM_001429.3(EP300):c.1168+7G>C http://identifiers.org/clinvar/210938 ^@ NM_001429.3(EP300):c.1878+9C>G http://identifiers.org/clinvar/210939 ^@ NM_001429.3(EP300):c.3105C>T (p.Thr1035=) http://identifiers.org/clinvar/210940 ^@ NM_001429.3(EP300):c.4836dupT (p.Val1613Cysfs) http://identifiers.org/clinvar/210941 ^@ NM_001429.3(EP300):c.6915_6918delTCAA (p.Asn2305Lysfs) http://identifiers.org/clinvar/212516 ^@ NM_020461.3(TUBGCP6):c.5285C>T (p.Pro1762Leu) http://identifiers.org/clinvar/212515 ^@ NM_020461.3(TUBGCP6):c.5181G>A (p.Thr1727=) http://identifiers.org/clinvar/212514 ^@ NM_020461.3(TUBGCP6):c.5161G>A (p.Val1721Ile) http://identifiers.org/clinvar/212513 ^@ NM_020461.3(TUBGCP6):c.4223C>T (p.Ala1408Val) http://identifiers.org/clinvar/212512 ^@ NM_020461.3(TUBGCP6):c.4051G>C (p.Ala1351Pro) http://identifiers.org/clinvar/212511 ^@ NM_020461.3(TUBGCP6):c.2893C>T (p.Pro965Ser) http://identifiers.org/clinvar/212510 ^@ NM_020461.3(TUBGCP6):c.2574G>C (p.Trp858Cys) http://identifiers.org/clinvar/212509 ^@ NM_020461.3(TUBGCP6):c.2356C>T (p.Arg786Ter) http://identifiers.org/clinvar/212508 ^@ NM_020461.3(TUBGCP6):c.2065+9C>T http://identifiers.org/clinvar/212507 ^@ NM_020461.3(TUBGCP6):c.2021C>T (p.Ala674Val) http://identifiers.org/clinvar/212506 ^@ NM_020461.3(TUBGCP6):c.1529T>G (p.Leu510Arg) http://identifiers.org/clinvar/212505 ^@ NM_020461.3(TUBGCP6):c.1304G>A (p.Gly435Asp) http://identifiers.org/clinvar/212504 ^@ NM_020461.3(TUBGCP6):c.1118C>T (p.Pro373Leu) http://identifiers.org/clinvar/212503 ^@ NM_020461.3(TUBGCP6):c.1026G>A (p.Pro342=) http://identifiers.org/clinvar/212517 ^@ NM_020461.3(TUBGCP6):c.895C>T (p.Arg299Ter) http://identifiers.org/clinvar/212518 ^@ NM_020461.3(TUBGCP6):c.89G>A (p.Arg30Gln) http://identifiers.org/clinvar/212175 ^@ NM_033517.1(SHANK3):c.3581T>C (p.Met1194Thr) http://identifiers.org/clinvar/212176 ^@ NM_033517.1(SHANK3):c.4960C>A (p.Pro1654Thr) http://identifiers.org/clinvar/211838 ^@ NM_001184880.1(PCDH19):c.2694C>T (p.Asp898=) http://identifiers.org/clinvar/211840 ^@ NM_001184880.1(PCDH19):c.942G>A (p.Leu314=) http://identifiers.org/clinvar/211839 ^@ NM_001184880.1(PCDH19):c.490C>T (p.Gln164Ter) http://identifiers.org/clinvar/212310 ^@ NM_014467.2(SRPX2):c.164T>C (p.Val55Ala) http://identifiers.org/clinvar/212309 ^@ NM_014467.2(SRPX2):c.1255G>A (p.Val419Met) http://identifiers.org/clinvar/210734 ^@ NM_001830.3(CLCN4):c.244+4C>T http://identifiers.org/clinvar/210735 ^@ NM_001830.3(CLCN4):c.705C>G (p.Gly235=) http://identifiers.org/clinvar/210732 ^@ NM_001830.3(CLCN4):c.1758G>A (p.Val586=) http://identifiers.org/clinvar/210733 ^@ NM_001830.3(CLCN4):c.2043C>T (p.Pro681=) http://identifiers.org/clinvar/211916 ^@ NM_000533.4(PLP1):c.49G>A (p.Ala17Thr) http://identifiers.org/clinvar/211497 ^@ NM_000381.3(MID1):c.1510T>C (p.Leu504=) http://identifiers.org/clinvar/211496 ^@ NM_000381.3(MID1):c.1489C>T (p.Leu497=) http://identifiers.org/clinvar/211500 ^@ NM_000381.3(MID1):c.661-8_661-7del http://identifiers.org/clinvar/211499 ^@ NM_000381.3(MID1):c.420C>G (p.Ser140=) http://identifiers.org/clinvar/211498 ^@ NM_000381.3(MID1):c.342C>T (p.Ala114=) http://identifiers.org/clinvar/210086 ^@ NM_004458.2(ACSL4):c.1583-7_1583-6del http://identifiers.org/clinvar/210085 ^@ NM_004458.2(ACSL4):c.1459A>G (p.Met487Val) http://identifiers.org/clinvar/210088 ^@ NM_004458.2(ACSL4):c.806+8A>C http://identifiers.org/clinvar/210087 ^@ NM_004458.2(ACSL4):c.245A>T (p.Tyr82Phe) http://identifiers.org/clinvar/210089 ^@ NM_004458.2(ACSL4):c.94A>G (p.Ile32Val) http://identifiers.org/clinvar/211837 ^@ NM_002578.4(PAK3):c.531G>A (p.Glu177=) http://identifiers.org/clinvar/210837 ^@ NM_178151.2(DCX):c.875dupA (p.Thr293Aspfs) http://identifiers.org/clinvar/210836 ^@ NM_178151.2(DCX):c.856G>T (p.Ala286Ser) http://identifiers.org/clinvar/210834 ^@ NM_178151.2(DCX):c.699_700insTACACTCTGGATGGA (p.Gly233_Lys234insTyrThrLeuAspGly) http://identifiers.org/clinvar/210833 ^@ NM_178151.2(DCX):c.681dupA (p.Leu228Thrfs) http://identifiers.org/clinvar/210832 ^@ NM_178151.2(DCX):c.578delA (p.Lys193Argfs) http://identifiers.org/clinvar/210831 ^@ NM_178151.2(DCX):c.526delT (p.Phe176Leufs) http://identifiers.org/clinvar/210830 ^@ NM_178151.2(DCX):c.339dupC (p.Gly114Argfs) http://identifiers.org/clinvar/210829 ^@ NM_178151.2(DCX):c.313_315dupTAC (p.Tyr105_Thr106insTyr) http://identifiers.org/clinvar/210828 ^@ NM_178151.2(DCX):c.280A>G (p.Asn94Asp) http://identifiers.org/clinvar/210827 ^@ NM_178151.2(DCX):c.226_234delCGTTTTCGCins2 http://identifiers.org/clinvar/210835 ^@ NM_178151.2(DCX):c.81_85dupTAGCC (p.Pro29Leufs) http://identifiers.org/clinvar/210826 ^@ NM_178151.2(DCX):c.22_23delTT (p.Phe8Terfs) http://identifiers.org/clinvar/212546 ^@ NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) http://identifiers.org/clinvar/212548 ^@ NM_080632.2(UPF3B):c.962T>C (p.Leu321Ser) http://identifiers.org/clinvar/212547 ^@ NM_080632.2(UPF3B):c.263+7_263+18dup http://identifiers.org/clinvar/210808 ^@ NM_003588.3(CUL4B):c.1255A>C (p.Lys419Gln) http://identifiers.org/clinvar/211101 ^@ NM_000828.4(GRIA3):c.162C>T (p.Ala54=) http://identifiers.org/clinvar/211053 ^@ NM_014728.3(FRMPD4):c.388G>A (p.Ala130Thr) http://identifiers.org/clinvar/211047 ^@ NM_014728.3(FRMPD4):c.1070+7G>A http://identifiers.org/clinvar/211048 ^@ NM_014728.3(FRMPD4):c.2048A>G (p.Glu683Gly) http://identifiers.org/clinvar/211049 ^@ NM_014728.3(FRMPD4):c.2154C>T (p.Asn718=) http://identifiers.org/clinvar/211050 ^@ NM_014728.3(FRMPD4):c.2182G>A (p.Ala728Thr) http://identifiers.org/clinvar/211051 ^@ NM_014728.3(FRMPD4):c.2903C>T (p.Ser968Leu) http://identifiers.org/clinvar/211052 ^@ NM_014728.3(FRMPD4):c.3261C>T (p.Arg1087=) http://identifiers.org/clinvar/211054 ^@ NM_014728.3(FRMPD4):c.3938G>A (p.Arg1313Gln) http://identifiers.org/clinvar/211780 ^@ NM_000276.3(OCRL):c.40-5C>T http://identifiers.org/clinvar/211777 ^@ NM_000276.3(OCRL):c.124A>G (p.Ile42Val) http://identifiers.org/clinvar/211779 ^@ NM_000276.3(OCRL):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/211781 ^@ NM_000276.3(OCRL):c.426_427delTTinsAC (p.Ser143Pro) http://identifiers.org/clinvar/211782 ^@ NM_000276.3(OCRL):c.471T>G (p.Ser157=) http://identifiers.org/clinvar/211783 ^@ NM_000276.3(OCRL):c.954C>T (p.Arg318=) http://identifiers.org/clinvar/211778 ^@ NM_000276.3(OCRL):c.2256+3A>G http://identifiers.org/clinvar/211900 ^@ NM_032458.2(PHF6):c.414C>T (p.Ser138=) http://identifiers.org/clinvar/212218 ^@ NM_001042537.1(SLC9A6):c.321T>G (p.Ile107Met) http://identifiers.org/clinvar/212217 ^@ NM_001042537.1(SLC9A6):c.*12C>T http://identifiers.org/clinvar/210250 ^@ NM_004840.2(ARHGEF6):c.1653C>T (p.Ala551=) http://identifiers.org/clinvar/210249 ^@ NM_004840.2(ARHGEF6):c.1190C>G (p.Thr397Ser) http://identifiers.org/clinvar/210254 ^@ NM_004840.2(ARHGEF6):c.942C>T (p.His314=) http://identifiers.org/clinvar/210253 ^@ NM_004840.2(ARHGEF6):c.685G>A (p.Val229Ile) http://identifiers.org/clinvar/210252 ^@ NM_004840.2(ARHGEF6):c.262G>C (p.Asp88His) http://identifiers.org/clinvar/210251 ^@ NM_004840.2(ARHGEF6):c.169T>C (p.Cys57Arg) http://identifiers.org/clinvar/211784 ^@ NM_003611.2(OFD1):c.12+28G>C http://identifiers.org/clinvar/211785 ^@ NM_003611.2(OFD1):c.1469A>G (p.Glu490Gly) http://identifiers.org/clinvar/211786 ^@ NM_003611.2(OFD1):c.2140G>A (p.Val714Met) http://identifiers.org/clinvar/211787 ^@ NM_003611.2(OFD1):c.2584T>G (p.Ser862Ala) http://identifiers.org/clinvar/211788 ^@ NM_003611.2(OFD1):c.2619T>A (p.Ile873=) http://identifiers.org/clinvar/211789 ^@ NM_003611.2(OFD1):c.2631G>A (p.Lys877=) http://identifiers.org/clinvar/211028 ^@ NM_002024.5(FMR1):c.374C>T (p.Thr125Ile) http://identifiers.org/clinvar/211029 ^@ NM_002024.5(FMR1):c.522T>A (p.Asn174Lys) http://identifiers.org/clinvar/211027 ^@ NM_002024.5(FMR1):c.1572C>T (p.Ser524=) http://identifiers.org/clinvar/210101 ^@ NM_002025.3(AFF2):c.47+16T>C http://identifiers.org/clinvar/210099 ^@ NM_002025.3(AFF2):c.292C>A (p.Pro98Thr) http://identifiers.org/clinvar/210102 ^@ NM_002025.3(AFF2):c.733G>A (p.Ala245Thr) http://identifiers.org/clinvar/210098 ^@ NM_002025.3(AFF2):c.1133C>G (p.Ala378Gly) http://identifiers.org/clinvar/210100 ^@ NM_002025.3(AFF2):c.3081C>T (p.Thr1027=) http://identifiers.org/clinvar/211540 ^@ NM_000252.2(MTM1):c.96dupT (p.Glu33Terfs) http://identifiers.org/clinvar/211529 ^@ NM_000252.2(MTM1):c.130dupA (p.Ile44Asnfs) http://identifiers.org/clinvar/211531 ^@ NM_000252.2(MTM1):c.137-11dupT http://identifiers.org/clinvar/211532 ^@ NM_000252.2(MTM1):c.342_342+4delAGTAA http://identifiers.org/clinvar/211533 ^@ NM_000252.2(MTM1):c.419dupA (p.Tyr140Terfs) http://identifiers.org/clinvar/211534 ^@ NM_000252.2(MTM1):c.422C>T (p.Ala141Val) http://identifiers.org/clinvar/211535 ^@ NM_000252.2(MTM1):c.549dupG (p.Arg184Glufs) http://identifiers.org/clinvar/211536 ^@ NM_000252.2(MTM1):c.805_808delAAAC (p.Gln270Phefs) http://identifiers.org/clinvar/211537 ^@ NM_000252.2(MTM1):c.867_867+1dupGG http://identifiers.org/clinvar/211538 ^@ NM_000252.2(MTM1):c.949dupA (p.Met317Asnfs) http://identifiers.org/clinvar/211539 ^@ NM_000252.2(MTM1):c.969dupA (p.Val324Serfs) http://identifiers.org/clinvar/211524 ^@ NM_000252.2(MTM1):c.1015dupT (p.Ser339Phefs) http://identifiers.org/clinvar/211525 ^@ NM_000252.2(MTM1):c.1089dupA (p.Val364Serfs) http://identifiers.org/clinvar/211526 ^@ NM_000252.2(MTM1):c.1227_1228delAGinsT (p.Lys409Asnfs) http://identifiers.org/clinvar/211527 ^@ NM_000252.2(MTM1):c.1283delA (p.Asn428Thrfs) http://identifiers.org/clinvar/211528 ^@ NM_000252.2(MTM1):c.1304_1306delCTC (p.Pro436del) http://identifiers.org/clinvar/211530 ^@ NM_000252.2(MTM1):c.1349_1353+4del http://identifiers.org/clinvar/211749 ^@ NM_001129765.1(NSDHL):c.267+7G>A http://identifiers.org/clinvar/211750 ^@ NM_001129765.1(NSDHL):c.356G>A (p.Arg119Lys) http://identifiers.org/clinvar/211751 ^@ NM_001129765.1(NSDHL):c.658A>G (p.Arg220Gly) http://identifiers.org/clinvar/211752 ^@ NM_001129765.1(NSDHL):c.750G>A (p.Ala250=) http://identifiers.org/clinvar/211748 ^@ NM_001129765.1(NSDHL):c.1038_1041dupCATG (p.Gly348Hisfs) http://identifiers.org/clinvar/211904 ^@ NM_002641.3(PIGA):c.232A>G (p.Lys78Glu) http://identifiers.org/clinvar/212215 ^@ NM_005629.3(SLC6A8):c.87G>A (p.Gly29=) http://identifiers.org/clinvar/212216 ^@ NM_005629.3(SLC6A8):c.974C>G (p.Thr325Arg) http://identifiers.org/clinvar/212209 ^@ NM_005629.3(SLC6A8):c.1437C>T (p.Ser479=) http://identifiers.org/clinvar/212210 ^@ NM_005629.3(SLC6A8):c.1496-4G>T http://identifiers.org/clinvar/212211 ^@ NM_005629.3(SLC6A8):c.1601T>C (p.Ile534Thr) http://identifiers.org/clinvar/212212 ^@ NM_005629.3(SLC6A8):c.1627G>A (p.Glu543Lys) http://identifiers.org/clinvar/212213 ^@ NM_005629.3(SLC6A8):c.1768-3C>T http://identifiers.org/clinvar/212214 ^@ NM_005629.3(SLC6A8):c.1890G>C (p.Val630=) http://identifiers.org/clinvar/211341 ^@ NM_000425.4(L1CAM):c.2614G>T (p.Val872Leu) http://identifiers.org/clinvar/211340 ^@ NM_000425.4(L1CAM):c.2351A>G (p.Tyr784Cys) http://identifiers.org/clinvar/211339 ^@ NM_000425.4(L1CAM):c.2278C>T (p.Arg760Ter) http://identifiers.org/clinvar/211338 ^@ NM_000425.4(L1CAM):c.2211G>A (p.Pro737=) http://identifiers.org/clinvar/211337 ^@ NM_000425.4(L1CAM):c.2106G>A (p.Pro702=) http://identifiers.org/clinvar/211344 ^@ NM_000425.4(L1CAM):c.1704-12G>C http://identifiers.org/clinvar/211336 ^@ NM_000425.4(L1CAM):c.1581A>C (p.Thr527=) http://identifiers.org/clinvar/211342 ^@ NM_000425.4(L1CAM):c.618C>A (p.Asp206Glu) http://identifiers.org/clinvar/211343 ^@ NM_000425.4(L1CAM):c.91+1G>T http://identifiers.org/clinvar/211136 ^@ NM_005334.2(HCFC1):c.5528G>C (p.Gly1843Ala) http://identifiers.org/clinvar/211135 ^@ NM_005334.2(HCFC1):c.3690G>A (p.Ala1230=) http://identifiers.org/clinvar/211134 ^@ NM_005334.2(HCFC1):c.3492C>T (p.Ser1164=) http://identifiers.org/clinvar/211133 ^@ NM_005334.2(HCFC1):c.3126G>A (p.Gln1042=) http://identifiers.org/clinvar/211132 ^@ NM_005334.2(HCFC1):c.2872A>G (p.Thr958Ala) http://identifiers.org/clinvar/211131 ^@ NM_005334.2(HCFC1):c.2691G>A (p.Ala897=) http://identifiers.org/clinvar/211130 ^@ NM_005334.2(HCFC1):c.2463T>A (p.Ile821=) http://identifiers.org/clinvar/211129 ^@ NM_005334.2(HCFC1):c.1084+8C>T http://identifiers.org/clinvar/211138 ^@ NM_005334.2(HCFC1):c.984C>T (p.Val328=) http://identifiers.org/clinvar/211137 ^@ NM_005334.2(HCFC1):c.905-3C>T http://identifiers.org/clinvar/211451 ^@ NM_001110792.1(MECP2):c.1193_*116del421 http://identifiers.org/clinvar/211457 ^@ NM_004992.3(MECP2):c.1400C>G (p.Pro467Arg) http://identifiers.org/clinvar/211456 ^@ NM_004992.3(MECP2):c.1328C>T (p.Ala443Val) http://identifiers.org/clinvar/211455 ^@ NM_004992.3(MECP2):c.1237T>C (p.Cys413Arg) http://identifiers.org/clinvar/211454 ^@ NM_004992.3(MECP2):c.1195C>T (p.Pro399Ser) http://identifiers.org/clinvar/211450 ^@ NM_001110792.1(MECP2):c.1043_1230del188 (p.Leu348Profs) http://identifiers.org/clinvar/211453 ^@ NM_004992.3(MECP2):c.1188C>T (p.Ser396=) http://identifiers.org/clinvar/211452 ^@ NM_004992.3(MECP2):c.1168C>G (p.Pro390Ala) http://identifiers.org/clinvar/211467 ^@ NM_001110792.1(MECP2):c.934_1202del269 (p.Val312Serfs) http://identifiers.org/clinvar/211466 ^@ NM_004992.3(MECP2):c.748C>T (p.Arg250Cys) http://identifiers.org/clinvar/211465 ^@ NM_004992.3(MECP2):c.714G>A (p.Gly238=) http://identifiers.org/clinvar/211464 ^@ NM_004992.3(MECP2):c.701C>A (p.Ala234Asp) http://identifiers.org/clinvar/211463 ^@ NM_001110792.1(MECP2):c.701_707dupTCAAGAT (p.Met236Ilefs) http://identifiers.org/clinvar/211462 ^@ NM_004992.3(MECP2):c.528C>T (p.Pro176=) http://identifiers.org/clinvar/211459 ^@ NM_004992.3(MECP2):c.276A>G (p.Gly92=) http://identifiers.org/clinvar/211458 ^@ NM_004992.3(MECP2):c.216G>A (p.Pro72=) http://identifiers.org/clinvar/211461 ^@ NM_001110792.1(MECP2):c.83_93delAGGACCTCCAG (p.Gln28Argfs) http://identifiers.org/clinvar/211460 ^@ NM_001110792.1(MECP2):c.30_31delCG (p.Ser10Argfs) http://identifiers.org/clinvar/211024 ^@ NM_001456.3(FLNA):c.6695A>G (p.Lys2232Arg) http://identifiers.org/clinvar/211023 ^@ NM_001456.3(FLNA):c.6478+7G>A http://identifiers.org/clinvar/211022 ^@ NM_001456.3(FLNA):c.6239G>A (p.Ser2080Asn) http://identifiers.org/clinvar/211021 ^@ NM_001456.3(FLNA):c.5999-10C>G http://identifiers.org/clinvar/211020 ^@ NM_001456.3(FLNA):c.5739C>T (p.Ser1913=) http://identifiers.org/clinvar/211019 ^@ NM_001456.3(FLNA):c.5568C>T (p.Asn1856=) http://identifiers.org/clinvar/211018 ^@ NM_001456.3(FLNA):c.5427G>A (p.Gln1809=) http://identifiers.org/clinvar/211017 ^@ NM_001456.3(FLNA):c.4517C>T (p.Thr1506Ile) http://identifiers.org/clinvar/211016 ^@ NM_001456.3(FLNA):c.4222G>A (p.Gly1408Ser) http://identifiers.org/clinvar/211015 ^@ NM_001456.3(FLNA):c.3717C>T (p.Pro1239=) http://identifiers.org/clinvar/211014 ^@ NM_001456.3(FLNA):c.2613C>T (p.Asp871=) http://identifiers.org/clinvar/211013 ^@ NM_001456.3(FLNA):c.2538C>T (p.Tyr846=) http://identifiers.org/clinvar/211012 ^@ NM_001456.3(FLNA):c.2504C>T (p.Thr835Met) http://identifiers.org/clinvar/211011 ^@ NM_001456.3(FLNA):c.1372G>A (p.Val458Ile) http://identifiers.org/clinvar/211010 ^@ NM_001456.3(FLNA):c.1238C>T (p.Thr413Met) http://identifiers.org/clinvar/211025 ^@ NM_001456.3(FLNA):c.66C>T (p.Asp22=) http://identifiers.org/clinvar/211077 ^@ NM_001493.2(GDI1):c.696C>T (p.Gly232=) http://identifiers.org/clinvar/210847 ^@ NM_001363.4(DKC1):c.1512_1514dupGAA (p.Lys505_Ala506insLys) http://identifiers.org/clinvar/211977 ^@ NM_171998.3(RAB39B):c.492C>T (p.Phe164=) http://identifiers.org/clinvar/211596 ^@ NM_198270.3(NHS):c.176_177delGCinsAA (p.Arg59Gln) http://identifiers.org/clinvar/211598 ^@ NM_198270.3(NHS):c.310_345del36 (p.Pro104_Ala115del) http://identifiers.org/clinvar/211595 ^@ NM_198270.3(NHS):c.1100C>T (p.Ser367Leu) http://identifiers.org/clinvar/211597 ^@ NM_198270.3(NHS):c.1880_1882dupCCA (p.Thr627_Ile628insThr) http://identifiers.org/clinvar/211599 ^@ NM_198270.3(NHS):c.3988G>A (p.Asp1330Asn) http://identifiers.org/clinvar/211600 ^@ NM_198270.3(NHS):c.4750C>T (p.Arg1584Trp) http://identifiers.org/clinvar/210642 ^@ NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) http://identifiers.org/clinvar/210643 ^@ NM_003159.2(CDKL5):c.1722G>A (p.Pro574=) http://identifiers.org/clinvar/210644 ^@ NM_003159.2(CDKL5):c.2215C>T (p.Leu739=) http://identifiers.org/clinvar/210645 ^@ NM_003159.2(CDKL5):c.2496+19A>G http://identifiers.org/clinvar/210646 ^@ NM_003159.2(CDKL5):c.2896G>A (p.Val966Ile) http://identifiers.org/clinvar/211893 ^@ NM_000284.3(PDHA1):c.984T>C (p.Asn328=) http://identifiers.org/clinvar/212070 ^@ NM_004586.2(RPS6KA3):c.2168G>A (p.Arg723His) http://identifiers.org/clinvar/212068 ^@ NM_004586.2(RPS6KA3):c.1989C>T (p.Asp663=) http://identifiers.org/clinvar/212067 ^@ NM_004586.2(RPS6KA3):c.1304_1307delTTTG (p.Val435Alafs) http://identifiers.org/clinvar/212071 ^@ NM_004586.2(RPS6KA3):c.632-3C>T http://identifiers.org/clinvar/212069 ^@ NM_004586.2(RPS6KA3):c.213A>G (p.Leu71=) http://identifiers.org/clinvar/212274 ^@ NM_004595.4(SMS):c.330A>G (p.Arg110=) http://identifiers.org/clinvar/212275 ^@ NM_004595.4(SMS):c.714C>T (p.Gly238=) http://identifiers.org/clinvar/211970 ^@ NM_173495.2(PTCHD1):c.336C>T (p.Thr112=) http://identifiers.org/clinvar/211971 ^@ NM_173495.2(PTCHD1):c.517A>G (p.Ile173Val) http://identifiers.org/clinvar/211966 ^@ NM_173495.2(PTCHD1):c.1332C>T (p.Val444=) http://identifiers.org/clinvar/211967 ^@ NM_173495.2(PTCHD1):c.1614C>T (p.Thr538=) http://identifiers.org/clinvar/211968 ^@ NM_173495.2(PTCHD1):c.1767G>A (p.Glu589=) http://identifiers.org/clinvar/211969 ^@ NM_173495.2(PTCHD1):c.2031G>T (p.Val677=) http://identifiers.org/clinvar/210934 ^@ NM_001415.3(EIF2S3):c.133+8T>C http://identifiers.org/clinvar/210322 ^@ NM_139058.2(ARX):c.1561G>A (p.Ala521Thr) http://identifiers.org/clinvar/210321 ^@ NM_139058.2(ARX):c.1471dupC (p.Leu491Profs) http://identifiers.org/clinvar/210320 ^@ NM_139058.2(ARX):c.1449-82_1469dup http://identifiers.org/clinvar/210319 ^@ NM_139058.2(ARX):c.1337dupC (p.Pro447Alafs) http://identifiers.org/clinvar/210318 ^@ NM_139058.2(ARX):c.1164_1165insCAAAG (p.Ala389Glnfs) http://identifiers.org/clinvar/210316 ^@ NM_139058.2(ARX):c.1096delG (p.Asp366Thrfs) http://identifiers.org/clinvar/210337 ^@ NM_139058.2(ARX):c.747G>A (p.Glu249=) http://identifiers.org/clinvar/210336 ^@ NM_139058.2(ARX):c.613C>T (p.Leu205Phe) http://identifiers.org/clinvar/210335 ^@ NM_139058.2(ARX):c.562_563delGCinsTA (p.Ala188Ter) http://identifiers.org/clinvar/210331 ^@ NM_139058.2(ARX):c.426_461dup36 (p.Ala154_Ala155insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/210334 ^@ NM_139058.2(ARX):c.448_456delGCCGCGGCC (p.Ala153_Ala155del) http://identifiers.org/clinvar/210333 ^@ NM_139058.2(ARX):c.441A>G (p.Ala147=) http://identifiers.org/clinvar/210330 ^@ NM_139058.2(ARX):c.409dupG (p.Glu137Glyfs) http://identifiers.org/clinvar/210327 ^@ NM_139058.2(ARX):c.312_335dup24 (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAla) http://identifiers.org/clinvar/210326 ^@ NM_139058.2(ARX):c.304_305ins21 (p.?) http://identifiers.org/clinvar/210325 ^@ NM_139058.2(ARX):c.303A>G (p.Ala101=) http://identifiers.org/clinvar/210324 ^@ NM_139058.2(ARX):c.300G>A (p.Ala100=) http://identifiers.org/clinvar/210323 ^@ NM_139058.2(ARX):c.196+6G>T http://identifiers.org/clinvar/211182 ^@ NM_014271.3(IL1RAPL1):c.2067C>G (p.Thr689=) http://identifiers.org/clinvar/210853 ^@ NM_004006.2(DMD):c.6614+3310G>T http://identifiers.org/clinvar/212456 ^@ NM_004615.3(TSPAN7):c.270+7A>G http://identifiers.org/clinvar/210523 ^@ NM_017745.5(BCOR):c.4386A>C (p.Ala1462=) http://identifiers.org/clinvar/210522 ^@ NM_017745.5(BCOR):c.4218T>C (p.Pro1406=) http://identifiers.org/clinvar/210520 ^@ NM_017745.5(BCOR):c.3305T>C (p.Val1102Ala) http://identifiers.org/clinvar/210519 ^@ NM_017745.5(BCOR):c.2199G>T (p.Thr733=) http://identifiers.org/clinvar/210518 ^@ NM_017745.5(BCOR):c.2035G>A (p.Val679Ile) http://identifiers.org/clinvar/210525 ^@ NM_017745.5(BCOR):c.874G>T (p.Gly292Cys) http://identifiers.org/clinvar/210524 ^@ NM_017745.5(BCOR):c.519C>T (p.Ser173=) http://identifiers.org/clinvar/210521 ^@ NM_017745.5(BCOR):c.408C>T (p.Ala136=) http://identifiers.org/clinvar/210586 ^@ NM_003688.3(CASK):c.2531_2532delAG (p.Glu844Valfs) http://identifiers.org/clinvar/210585 ^@ NM_003688.3(CASK):c.2377C>T (p.Gln793Ter) http://identifiers.org/clinvar/210584 ^@ NM_003688.3(CASK):c.2310C>T (p.Thr770=) http://identifiers.org/clinvar/210583 ^@ NM_003688.3(CASK):c.2302+10G>C http://identifiers.org/clinvar/210582 ^@ NM_003688.3(CASK):c.2019T>G (p.Pro673=) http://identifiers.org/clinvar/210581 ^@ NM_003688.3(CASK):c.1981delC (p.Leu661Trpfs) http://identifiers.org/clinvar/210580 ^@ NM_003688.3(CASK):c.1125C>T (p.Phe375=) http://identifiers.org/clinvar/210587 ^@ NM_003688.3(CASK):c.429+4del http://identifiers.org/clinvar/211432 ^@ NM_000240.3(MAOA):c.1079G>A (p.Arg360Gln) http://identifiers.org/clinvar/211254 ^@ NM_021140.3(KDM6A):c.1543delG (p.Val515Leufs) http://identifiers.org/clinvar/211255 ^@ NM_021140.3(KDM6A):c.2232C>T (p.Val744=) http://identifiers.org/clinvar/211256 ^@ NM_021140.3(KDM6A):c.2832+2dup http://identifiers.org/clinvar/211257 ^@ NM_021140.3(KDM6A):c.3635A>G (p.Gln1212Arg) http://identifiers.org/clinvar/212331 ^@ NM_133499.2(SYN1):c.1414C>T (p.Pro472Ser) http://identifiers.org/clinvar/212330 ^@ NM_133499.2(SYN1):c.1056-10_1056-8del http://identifiers.org/clinvar/212334 ^@ NM_133499.2(SYN1):c.838-3C>T http://identifiers.org/clinvar/212333 ^@ NM_133499.2(SYN1):c.508A>T (p.Asn170Tyr) http://identifiers.org/clinvar/212332 ^@ NM_133499.2(SYN1):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/212694 ^@ NM_007137.3(ZNF81):c.12C>T (p.Asn4=) http://identifiers.org/clinvar/212696 ^@ NM_007137.3(ZNF81):c.350G>A (p.Gly117Asp) http://identifiers.org/clinvar/212697 ^@ NM_007137.3(ZNF81):c.417A>G (p.Ile139Met) http://identifiers.org/clinvar/212698 ^@ NM_007137.3(ZNF81):c.509A>G (p.Lys170Arg) http://identifiers.org/clinvar/212695 ^@ NM_007137.3(ZNF81):c.1495A>G (p.Ile499Val) http://identifiers.org/clinvar/210901 ^@ NM_006579.2(EBP):c.201_203dupCTG (p.Cys67_Trp68insCys) http://identifiers.org/clinvar/210902 ^@ NM_006579.2(EBP):c.225dupT (p.His76Serfs) http://identifiers.org/clinvar/210903 ^@ NM_006579.2(EBP):c.329_332dupGATA (p.Tyr111Terfs) http://identifiers.org/clinvar/210904 ^@ NM_006579.2(EBP):c.369_379delCATCACAGCTTinsAG (p.Ile124_Cys127delinsGly) http://identifiers.org/clinvar/210905 ^@ NM_006579.2(EBP):c.423_427delCCGCCinsT (p.Arg142Serfs) http://identifiers.org/clinvar/210906 ^@ NM_006579.2(EBP):c.484dupG (p.Asp162Glyfs) http://identifiers.org/clinvar/212587 ^@ NM_000377.2(WAS):c.1299G>A (p.Ala433=) http://identifiers.org/clinvar/211955 ^@ NM_005710.2(PQBP1):c.288T>C (p.Asn96=) http://identifiers.org/clinvar/212591 ^@ NM_007075.3(WDR45):c.1033A>G (p.Asn345Asp) http://identifiers.org/clinvar/212596 ^@ NM_007075.3(WDR45):c.969dupT (p.Val324Cysfs) http://identifiers.org/clinvar/212595 ^@ NM_007075.3(WDR45):c.866G>T (p.Gly289Val) http://identifiers.org/clinvar/212594 ^@ NM_007075.3(WDR45):c.830+2_830+3del http://identifiers.org/clinvar/212593 ^@ NM_007075.3(WDR45):c.519+1G>T http://identifiers.org/clinvar/212592 ^@ NM_007075.3(WDR45):c.400C>T (p.Arg134Ter) http://identifiers.org/clinvar/212359 ^@ NM_003179.2(SYP):c.5T>A (p.Leu2Gln) http://identifiers.org/clinvar/210617 ^@ NM_014008.4(CCDC22):c.536-7C>T http://identifiers.org/clinvar/210614 ^@ NM_014008.4(CCDC22):c.1070C>G (p.Thr357Ser) http://identifiers.org/clinvar/210615 ^@ NM_014008.4(CCDC22):c.1150C>T (p.Arg384Cys) http://identifiers.org/clinvar/210616 ^@ NM_014008.4(CCDC22):c.1590G>A (p.Gly530=) http://identifiers.org/clinvar/211046 ^@ NM_014009.3(FOXP3):c.727delG (p.Glu243Serfs) http://identifiers.org/clinvar/211045 ^@ NM_014009.3(FOXP3):c.434C>T (p.Ala145Val) http://identifiers.org/clinvar/212181 ^@ NM_020717.3(SHROOM4):c.4066G>A (p.Val1356Ile) http://identifiers.org/clinvar/212180 ^@ NM_020717.3(SHROOM4):c.3140C>G (p.Ala1047Gly) http://identifiers.org/clinvar/212179 ^@ NM_020717.3(SHROOM4):c.2896-17A>G http://identifiers.org/clinvar/212182 ^@ NM_020717.3(SHROOM4):c.731A>G (p.Asn244Ser) http://identifiers.org/clinvar/212178 ^@ NM_020717.3(SHROOM4):c.266G>A (p.Arg89Lys) http://identifiers.org/clinvar/212177 ^@ NM_020717.3(SHROOM4):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/211251 ^@ NM_004187.3(KDM5C):c.4611G>A (p.Ser1537=) http://identifiers.org/clinvar/211250 ^@ NM_004187.3(KDM5C):c.3551C>T (p.Thr1184Ile) http://identifiers.org/clinvar/211249 ^@ NM_004187.3(KDM5C):c.3118C>T (p.Gln1040Ter) http://identifiers.org/clinvar/211248 ^@ NM_004187.3(KDM5C):c.2823A>G (p.Ser941=) http://identifiers.org/clinvar/211247 ^@ NM_004187.3(KDM5C):c.2726G>A (p.Arg909Gln) http://identifiers.org/clinvar/211246 ^@ NM_004187.3(KDM5C):c.2243G>C (p.Arg748Pro) http://identifiers.org/clinvar/211245 ^@ NM_004187.3(KDM5C):c.1495G>A (p.Val499Met) http://identifiers.org/clinvar/211253 ^@ NM_004187.3(KDM5C):c.608C>T (p.Pro203Leu) http://identifiers.org/clinvar/211252 ^@ NM_004187.3(KDM5C):c.536G>A (p.Arg179His) http://identifiers.org/clinvar/211208 ^@ NM_001111125.2(IQSEC2):c.4416C>T (p.Pro1472=) http://identifiers.org/clinvar/211207 ^@ NM_001111125.2(IQSEC2):c.3735C>T (p.His1245=) http://identifiers.org/clinvar/211206 ^@ NM_001111125.2(IQSEC2):c.3663A>G (p.Pro1221=) http://identifiers.org/clinvar/211205 ^@ NM_001111125.2(IQSEC2):c.3617G>C (p.Gly1206Ala) http://identifiers.org/clinvar/211204 ^@ NM_001111125.2(IQSEC2):c.3452-22G>A http://identifiers.org/clinvar/211203 ^@ NM_001111125.2(IQSEC2):c.3205C>A (p.Arg1069=) http://identifiers.org/clinvar/211202 ^@ NM_001111125.2(IQSEC2):c.3018C>A (p.Val1006=) http://identifiers.org/clinvar/211201 ^@ NM_001111125.2(IQSEC2):c.1133G>A (p.Arg378His) http://identifiers.org/clinvar/211209 ^@ NM_001111125.2(IQSEC2):c.618C>T (p.Ser206=) http://identifiers.org/clinvar/212270 ^@ NM_006306.3(SMC1A):c.3306C>G (p.Asn1102Lys) http://identifiers.org/clinvar/212269 ^@ NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) http://identifiers.org/clinvar/212268 ^@ NM_006306.3(SMC1A):c.2788C>T (p.Leu930=) http://identifiers.org/clinvar/212267 ^@ NM_006306.3(SMC1A):c.2369G>A (p.Arg790Gln) http://identifiers.org/clinvar/212266 ^@ NM_006306.3(SMC1A):c.2046_2048delAGA (p.Glu684del) http://identifiers.org/clinvar/212265 ^@ NM_006306.3(SMC1A):c.1142_1144delAAG (p.Glu381del) http://identifiers.org/clinvar/211156 ^@ NM_004493.2(HSD17B10):c.366C>T (p.Leu122=) http://identifiers.org/clinvar/211162 ^@ NM_031407.6(HUWE1):c.12831+8G>A http://identifiers.org/clinvar/211161 ^@ NM_031407.6(HUWE1):c.12245G>A (p.Arg4082His) http://identifiers.org/clinvar/211158 ^@ NM_031407.6(HUWE1):c.10824C>G (p.Leu3608=) http://identifiers.org/clinvar/211171 ^@ NM_031407.6(HUWE1):c.9468_9470delGGG (p.Gly3157del) http://identifiers.org/clinvar/211170 ^@ NM_031407.6(HUWE1):c.9097-6C>T http://identifiers.org/clinvar/211167 ^@ NM_031407.6(HUWE1):c.6097+7A>C http://identifiers.org/clinvar/211166 ^@ NM_031407.6(HUWE1):c.5091A>G (p.Gly1697=) http://identifiers.org/clinvar/211165 ^@ NM_031407.6(HUWE1):c.3966G>A (p.Leu1322=) http://identifiers.org/clinvar/211164 ^@ NM_031407.6(HUWE1):c.1885C>T (p.Arg629Cys) http://identifiers.org/clinvar/211160 ^@ NM_031407.6(HUWE1):c.1188C>T (p.Tyr396=) http://identifiers.org/clinvar/211159 ^@ NM_031407.6(HUWE1):c.1115A>T (p.Asp372Val) http://identifiers.org/clinvar/211157 ^@ NM_031407.6(HUWE1):c.1000A>G (p.Ile334Val) http://identifiers.org/clinvar/211172 ^@ NM_031407.6(HUWE1):c.957G>T (p.Gln319His) http://identifiers.org/clinvar/211169 ^@ NM_031407.6(HUWE1):c.654T>C (p.Ser218=) http://identifiers.org/clinvar/211168 ^@ NM_031407.6(HUWE1):c.645+1G>T http://identifiers.org/clinvar/211163 ^@ NM_031407.6(HUWE1):c.147C>T (p.Cys49=) http://identifiers.org/clinvar/211903 ^@ NM_015107.2(PHF8):c.2720G>A (p.Arg907His) http://identifiers.org/clinvar/211901 ^@ NM_015107.2(PHF8):c.2131G>A (p.Glu711Lys) http://identifiers.org/clinvar/211902 ^@ NM_015107.2(PHF8):c.214C>A (p.His72Asn) http://identifiers.org/clinvar/211311 ^@ NM_007250.5(KLF8):c.322A>G (p.Ile108Val) http://identifiers.org/clinvar/211682 ^@ NM_020742.3(NLGN4X):c.2361G>A (p.Thr787=) http://identifiers.org/clinvar/211681 ^@ NM_020742.3(NLGN4X):c.2360C>T (p.Thr787Met) http://identifiers.org/clinvar/211680 ^@ NM_020742.3(NLGN4X):c.1887C>T (p.Pro629=) http://identifiers.org/clinvar/210256 ^@ NM_015185.2(ARHGEF9):c.760G>T (p.Ala254Ser) http://identifiers.org/clinvar/210255 ^@ NM_015185.2(ARHGEF9):c.245G>T (p.Gly82Val) http://identifiers.org/clinvar/210223 ^@ NM_000044.4(AR):c.231_239delGCAGCAGCA (p.Gln78_Gln80del) http://identifiers.org/clinvar/211793 ^@ NM_002547.2(OPHN1):c.1830C>T (p.Ser610=) http://identifiers.org/clinvar/211792 ^@ NM_002547.2(OPHN1):c.1722G>A (p.Pro574=) http://identifiers.org/clinvar/211791 ^@ NM_002547.2(OPHN1):c.1613A>G (p.Asp538Gly) http://identifiers.org/clinvar/211790 ^@ NM_002547.2(OPHN1):c.1126A>G (p.Lys376Glu) http://identifiers.org/clinvar/211795 ^@ NM_002547.2(OPHN1):c.702+8T>C http://identifiers.org/clinvar/211794 ^@ NM_002547.2(OPHN1):c.333G>A (p.Leu111=) http://identifiers.org/clinvar/210913 ^@ NM_004429.4(EFNB1):c.175A>C (p.Lys59Gln) http://identifiers.org/clinvar/210852 ^@ NM_021120.3(DLG3):c.429C>T (p.Phe143=) http://identifiers.org/clinvar/210848 ^@ NM_021120.3(DLG3):c.1242C>T (p.Ile414=) http://identifiers.org/clinvar/210849 ^@ NM_021120.3(DLG3):c.1388C>T (p.Ala463Val) http://identifiers.org/clinvar/210850 ^@ NM_021120.3(DLG3):c.1405+5_1405+7del http://identifiers.org/clinvar/210851 ^@ NM_021120.3(DLG3):c.2076C>T (p.Ile692=) http://identifiers.org/clinvar/211469 ^@ NM_005120.2(MED12):c.1695T>A (p.Ile565=) http://identifiers.org/clinvar/211470 ^@ NM_005120.2(MED12):c.1807C>T (p.Leu603=) http://identifiers.org/clinvar/211471 ^@ NM_005120.2(MED12):c.2128G>A (p.Val710Met) http://identifiers.org/clinvar/211472 ^@ NM_005120.2(MED12):c.2274T>C (p.Phe758=) http://identifiers.org/clinvar/211473 ^@ NM_005120.2(MED12):c.3063C>A (p.Phe1021Leu) http://identifiers.org/clinvar/211474 ^@ NM_005120.2(MED12):c.3989T>G (p.Leu1330Arg) http://identifiers.org/clinvar/211475 ^@ NM_005120.2(MED12):c.4179A>C (p.Ser1393=) http://identifiers.org/clinvar/211476 ^@ NM_005120.2(MED12):c.4488C>T (p.Arg1496=) http://identifiers.org/clinvar/211477 ^@ NM_005120.2(MED12):c.5418G>A (p.Pro1806=) http://identifiers.org/clinvar/211478 ^@ NM_005120.2(MED12):c.6300_6308dupGCAGCAGCA (p.Gln2115_His2116insGlnGlnGln) http://identifiers.org/clinvar/211479 ^@ NM_005120.2(MED12):c.6339A>G (p.Gln2113=) http://identifiers.org/clinvar/211677 ^@ NM_018977.3(NLGN3):c.435C>T (p.Asn145=) http://identifiers.org/clinvar/211678 ^@ NM_018977.3(NLGN3):c.592A>C (p.Met198Leu) http://identifiers.org/clinvar/211679 ^@ NM_018977.3(NLGN3):c.921A>G (p.Pro307=) http://identifiers.org/clinvar/211674 ^@ NM_018977.3(NLGN3):c.1413C>T (p.Ala471=) http://identifiers.org/clinvar/211675 ^@ NM_018977.3(NLGN3):c.1643+5G>T http://identifiers.org/clinvar/211676 ^@ NM_018977.3(NLGN3):c.2271C>T (p.Ala757=) http://identifiers.org/clinvar/211143 ^@ NM_018486.2(HDAC8):c.770C>A (p.Pro257His) http://identifiers.org/clinvar/211142 ^@ NM_018486.2(HDAC8):c.556G>A (p.Glu186Lys) http://identifiers.org/clinvar/211141 ^@ NM_018486.2(HDAC8):c.229C>T (p.Gln77Ter) http://identifiers.org/clinvar/211139 ^@ NM_018486.2(HDAC8):c.134_137delTTGA (p.Ile45Lysfs) http://identifiers.org/clinvar/211140 ^@ NM_018486.2(HDAC8):c.20C>G (p.Pro7Arg) http://identifiers.org/clinvar/212190 ^@ NM_006517.4(SLC16A2):c.239C>T (p.Thr80Met) http://identifiers.org/clinvar/212191 ^@ NM_006517.4(SLC16A2):c.256delC (p.Arg86Alafs) http://identifiers.org/clinvar/212192 ^@ NM_006517.4(SLC16A2):c.374delA (p.Tyr125Serfs) http://identifiers.org/clinvar/212186 ^@ NM_006517.4(SLC16A2):c.940C>T (p.Arg314Ter) http://identifiers.org/clinvar/212187 ^@ NM_006517.4(SLC16A2):c.949C>T (p.Arg317Cys) http://identifiers.org/clinvar/212188 ^@ NM_006517.4(SLC16A2):c.1392dupC (p.Ile465Hisfs) http://identifiers.org/clinvar/212189 ^@ NM_006517.4(SLC16A2):c.1474_1481delGTAATCCT (p.Val492Leufs) http://identifiers.org/clinvar/211270 ^@ NM_001008537.2(KIAA2022):c.4509T>C (p.Pro1503=) http://identifiers.org/clinvar/211269 ^@ NM_001008537.2(KIAA2022):c.4246C>T (p.Pro1416Ser) http://identifiers.org/clinvar/211268 ^@ NM_001008537.2(KIAA2022):c.4243A>G (p.Met1415Val) http://identifiers.org/clinvar/211267 ^@ NM_001008537.2(KIAA2022):c.3972C>T (p.Ala1324=) http://identifiers.org/clinvar/211266 ^@ NM_001008537.2(KIAA2022):c.3798C>T (p.Gly1266=) http://identifiers.org/clinvar/211265 ^@ NM_001008537.2(KIAA2022):c.3637G>A (p.Gly1213Ser) http://identifiers.org/clinvar/211264 ^@ NM_001008537.2(KIAA2022):c.3319G>A (p.Asp1107Asn) http://identifiers.org/clinvar/211263 ^@ NM_001008537.2(KIAA2022):c.2772_2773insTTTC (p.Glu925Phefs) http://identifiers.org/clinvar/211262 ^@ NM_001008537.2(KIAA2022):c.2560C>A (p.Pro854Thr) http://identifiers.org/clinvar/211261 ^@ NM_001008537.2(KIAA2022):c.2001_2003delAGA (p.Glu667del) http://identifiers.org/clinvar/212628 ^@ NM_144969.2(ZDHHC15):c.1008A>G (p.Glu336=) http://identifiers.org/clinvar/212630 ^@ NM_144969.2(ZDHHC15):c.164-8del http://identifiers.org/clinvar/212631 ^@ NM_144969.2(ZDHHC15):c.164-8dup http://identifiers.org/clinvar/212629 ^@ NM_144969.2(ZDHHC15):c.10G>A (p.Gly4Ser) http://identifiers.org/clinvar/210499 ^@ NM_000489.4(ATRX):c.6871A>G (p.Ile2291Val) http://identifiers.org/clinvar/210498 ^@ NM_000489.4(ATRX):c.5787-8_5787-5delGTTT http://identifiers.org/clinvar/210497 ^@ NM_000489.4(ATRX):c.4626_4631delTGAAGA (p.Asp1542_Glu1543del) http://identifiers.org/clinvar/210496 ^@ NM_000489.4(ATRX):c.4483A>T (p.Asn1495Tyr) http://identifiers.org/clinvar/210495 ^@ NM_000489.4(ATRX):c.3794A>G (p.Asn1265Ser) http://identifiers.org/clinvar/210494 ^@ NM_000489.4(ATRX):c.2522T>C (p.Ile841Thr) http://identifiers.org/clinvar/210493 ^@ NM_000489.4(ATRX):c.1386T>C (p.Ala462=) http://identifiers.org/clinvar/210501 ^@ NM_000489.4(ATRX):c.846C>T (p.Ser282=) http://identifiers.org/clinvar/210500 ^@ NM_000489.4(ATRX):c.838T>C (p.Cys280Arg) http://identifiers.org/clinvar/210385 ^@ NM_000052.6(ATP7A):c.-54T>C http://identifiers.org/clinvar/210474 ^@ NM_000052.6(ATP7A):c.421_422delGA (p.Glu141Alafs) http://identifiers.org/clinvar/210477 ^@ NM_000052.6(ATP7A):c.565A>G (p.Ile189Val) http://identifiers.org/clinvar/210478 ^@ NM_000052.6(ATP7A):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/210479 ^@ NM_000052.6(ATP7A):c.876delG (p.Ser293Glnfs) http://identifiers.org/clinvar/210386 ^@ NM_000052.6(ATP7A):c.1006G>T (p.Glu336Ter) http://identifiers.org/clinvar/210387 ^@ NM_000052.6(ATP7A):c.1013T>A (p.Val338Glu) http://identifiers.org/clinvar/210388 ^@ NM_000052.6(ATP7A):c.1020_1024dupGGGGC (p.Leu342Argfs) http://identifiers.org/clinvar/210389 ^@ NM_000052.6(ATP7A):c.1225C>T (p.Arg409Ter) http://identifiers.org/clinvar/210390 ^@ NM_000052.6(ATP7A):c.1299A>T (p.Gly433=) http://identifiers.org/clinvar/210391 ^@ NM_000052.6(ATP7A):c.1355delT (p.Val452Glufs) http://identifiers.org/clinvar/210392 ^@ NM_000052.6(ATP7A):c.1460C>A (p.Ser487Ter) http://identifiers.org/clinvar/210393 ^@ NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) http://identifiers.org/clinvar/210394 ^@ NM_000052.6(ATP7A):c.1544-1G>A http://identifiers.org/clinvar/210395 ^@ NM_000052.6(ATP7A):c.1639C>T (p.Arg547Ter) http://identifiers.org/clinvar/210396 ^@ NM_000052.6(ATP7A):c.1667_1668delTA (p.Ile556Argfs) http://identifiers.org/clinvar/210397 ^@ NM_000052.6(ATP7A):c.1707+6T>A http://identifiers.org/clinvar/210398 ^@ NM_000052.6(ATP7A):c.1708-11G>T http://identifiers.org/clinvar/210399 ^@ NM_000052.6(ATP7A):c.1782C>G (p.Tyr594Ter) http://identifiers.org/clinvar/210400 ^@ NM_000052.6(ATP7A):c.1831G>T (p.Glu611Ter) http://identifiers.org/clinvar/210401 ^@ NM_000052.6(ATP7A):c.1870-1G>C http://identifiers.org/clinvar/210402 ^@ NM_000052.6(ATP7A):c.1874T>G (p.Leu625Ter) http://identifiers.org/clinvar/210403 ^@ NM_000052.6(ATP7A):c.1885G>C (p.Ala629Pro) http://identifiers.org/clinvar/210404 ^@ NM_000052.6(ATP7A):c.1933C>T (p.Arg645Ter) http://identifiers.org/clinvar/210405 ^@ NM_000052.6(ATP7A):c.1946+1G>C http://identifiers.org/clinvar/210406 ^@ NM_000052.6(ATP7A):c.1946+5G>A http://identifiers.org/clinvar/210407 ^@ NM_000052.6(ATP7A):c.1947-1G>C http://identifiers.org/clinvar/210408 ^@ NM_000052.6(ATP7A):c.1950G>A (p.Trp650Ter) http://identifiers.org/clinvar/210409 ^@ NM_000052.6(ATP7A):c.1978_2008dup31 (p.Tyr670Phefs) http://identifiers.org/clinvar/210410 ^@ NM_000052.6(ATP7A):c.1996G>A (p.Gly666Arg) http://identifiers.org/clinvar/210411 ^@ NM_000052.6(ATP7A):c.1996G>C (p.Gly666Arg) http://identifiers.org/clinvar/210412 ^@ NM_000052.6(ATP7A):c.2006T>C (p.Ile669Thr) http://identifiers.org/clinvar/210413 ^@ NM_000052.6(ATP7A):c.2106G>T (p.Glu702Asp) http://identifiers.org/clinvar/210414 ^@ NM_000052.6(ATP7A):c.2160T>A (p.Cys720Ter) http://identifiers.org/clinvar/210416 ^@ NM_000052.6(ATP7A):c.2172G>T (p.Gln724His) http://identifiers.org/clinvar/210415 ^@ NM_000052.6(ATP7A):c.2172+5G>C http://identifiers.org/clinvar/210417 ^@ NM_000052.6(ATP7A):c.2173-2A>G http://identifiers.org/clinvar/210418 ^@ NM_000052.6(ATP7A):c.2179G>A (p.Gly727Arg) http://identifiers.org/clinvar/210419 ^@ NM_000052.6(ATP7A):c.2179G>T (p.Gly727Ter) http://identifiers.org/clinvar/210420 ^@ NM_000052.6(ATP7A):c.2183G>A (p.Gly728Asp) http://identifiers.org/clinvar/210421 ^@ NM_000052.6(ATP7A):c.2187G>A (p.Trp729Ter) http://identifiers.org/clinvar/210422 ^@ NM_000052.6(ATP7A):c.2248_2251dupATTG (p.Val751Aspfs) http://identifiers.org/clinvar/210423 ^@ NM_000052.6(ATP7A):c.2302delG (p.Ala768Glnfs) http://identifiers.org/clinvar/210424 ^@ NM_000052.6(ATP7A):c.2357T>G (p.Met786Arg) http://identifiers.org/clinvar/210425 ^@ NM_000052.6(ATP7A):c.2383C>T (p.Arg795Ter) http://identifiers.org/clinvar/210426 ^@ NM_000052.6(ATP7A):c.2395_2405delCATATAGCAAAinsAGCATC (p.His799Serfs) http://identifiers.org/clinvar/210427 ^@ NM_000052.6(ATP7A):c.2405_2406+1delinsT http://identifiers.org/clinvar/210428 ^@ NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) http://identifiers.org/clinvar/210429 ^@ NM_000052.6(ATP7A):c.2498+2T>A http://identifiers.org/clinvar/210431 ^@ NM_000052.6(ATP7A):c.2499-1G>A http://identifiers.org/clinvar/210430 ^@ NM_000052.6(ATP7A):c.2499-1_2504dupGTGAAGA http://identifiers.org/clinvar/210432 ^@ NM_000052.6(ATP7A):c.2555C>T (p.Pro852Leu) http://identifiers.org/clinvar/210433 ^@ NM_000052.6(ATP7A):c.2645dupC (p.Lys883Terfs) http://identifiers.org/clinvar/210434 ^@ NM_000052.6(ATP7A):c.2750T>A (p.Val917Asp) http://identifiers.org/clinvar/210435 ^@ NM_000052.6(ATP7A):c.2781G>C (p.Lys927Asn) http://identifiers.org/clinvar/210436 ^@ NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) http://identifiers.org/clinvar/210437 ^@ NM_000052.6(ATP7A):c.2916+3_2916+6del http://identifiers.org/clinvar/210438 ^@ NM_000052.6(ATP7A):c.2956C>T (p.Arg986Ter) http://identifiers.org/clinvar/210439 ^@ NM_000052.6(ATP7A):c.3002C>T (p.Pro1001Leu) http://identifiers.org/clinvar/210440 ^@ NM_000052.6(ATP7A):c.3068_3082delGCATACTAATAAAAG (p.Ile1024_Gly1028del) http://identifiers.org/clinvar/210441 ^@ NM_000052.6(ATP7A):c.3112-1G>A http://identifiers.org/clinvar/210442 ^@ NM_000052.6(ATP7A):c.3124delG (p.Val1042Tyrfs) http://identifiers.org/clinvar/210443 ^@ NM_000052.6(ATP7A):c.3127_3131delTTTGAinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) http://identifiers.org/clinvar/210444 ^@ NM_000052.6(ATP7A):c.3132T>G (p.Asp1044Glu) http://identifiers.org/clinvar/210445 ^@ NM_000052.6(ATP7A):c.3152_3156delACGGAins4 http://identifiers.org/clinvar/210446 ^@ NM_000052.6(ATP7A):c.3285T>G (p.Tyr1095Ter) http://identifiers.org/clinvar/210447 ^@ NM_000052.6(ATP7A):c.3288C>A (p.Cys1096Ter) http://identifiers.org/clinvar/210448 ^@ NM_000052.6(ATP7A):c.3294+1G>T http://identifiers.org/clinvar/210449 ^@ NM_000052.6(ATP7A):c.3340delG (p.Val1114Cysfs) http://identifiers.org/clinvar/210450 ^@ NM_000052.6(ATP7A):c.3352G>T (p.Gly1118Cys) http://identifiers.org/clinvar/210451 ^@ NM_000052.6(ATP7A):c.3379G>T (p.Glu1127Ter) http://identifiers.org/clinvar/210452 ^@ NM_000052.6(ATP7A):c.3449T>C (p.Ile1150Thr) http://identifiers.org/clinvar/210453 ^@ NM_000052.6(ATP7A):c.3466C>T (p.Gln1156Ter) http://identifiers.org/clinvar/210454 ^@ NM_000052.6(ATP7A):c.3502C>T (p.Gln1168Ter) http://identifiers.org/clinvar/210455 ^@ NM_000052.6(ATP7A):c.3532T>C (p.Tyr1178His) http://identifiers.org/clinvar/210456 ^@ NM_000052.6(ATP7A):c.3537delA (p.Val1180Serfs) http://identifiers.org/clinvar/210457 ^@ NM_000052.6(ATP7A):c.3658+13A>G http://identifiers.org/clinvar/210458 ^@ NM_000052.6(ATP7A):c.3764G>A (p.Gly1255Glu) http://identifiers.org/clinvar/210459 ^@ NM_000052.6(ATP7A):c.3774delTinsATGACTGG (p.Ser1258Argfs) http://identifiers.org/clinvar/210460 ^@ NM_000052.6(ATP7A):c.3775_3776delAAinsTTAC (p.Lys1259Leufs) http://identifiers.org/clinvar/210461 ^@ NM_000052.6(ATP7A):c.3800A>T (p.Gln1267Leu) http://identifiers.org/clinvar/210462 ^@ NM_000052.6(ATP7A):c.3801+1G>T http://identifiers.org/clinvar/210463 ^@ NM_000052.6(ATP7A):c.3801+4A>G http://identifiers.org/clinvar/210464 ^@ NM_000052.6(ATP7A):c.3920C>G (p.Pro1307Arg) http://identifiers.org/clinvar/210465 ^@ NM_000052.6(ATP7A):c.3920delC (p.Pro1307Glnfs) http://identifiers.org/clinvar/210466 ^@ NM_000052.6(ATP7A):c.3931A>G (p.Met1311Val) http://identifiers.org/clinvar/210467 ^@ NM_000052.6(ATP7A):c.3943G>A (p.Gly1315Arg) http://identifiers.org/clinvar/210468 ^@ NM_000052.6(ATP7A):c.4005+1G>T http://identifiers.org/clinvar/210469 ^@ NM_000052.6(ATP7A):c.4014_4016delTCT (p.Leu1339del) http://identifiers.org/clinvar/210471 ^@ NM_000052.6(ATP7A):c.4123G>A (p.Gly1375Arg) http://identifiers.org/clinvar/210470 ^@ NM_000052.6(ATP7A):c.4123+1G>A http://identifiers.org/clinvar/210472 ^@ NM_000052.6(ATP7A):c.4132dupA (p.Met1378Asnfs) http://identifiers.org/clinvar/210473 ^@ NM_000052.6(ATP7A):c.4187C>T (p.Ser1396Leu) http://identifiers.org/clinvar/210476 ^@ NM_000052.6(ATP7A):c.4226+5G>A http://identifiers.org/clinvar/210475 ^@ NM_000052.6(ATP7A):c.4226+11T>C http://identifiers.org/clinvar/210542 ^@ NM_153252.4(BRWD3):c.5101G>A (p.Gly1701Arg) http://identifiers.org/clinvar/210541 ^@ NM_153252.4(BRWD3):c.3690A>G (p.Ala1230=) http://identifiers.org/clinvar/210540 ^@ NM_153252.4(BRWD3):c.3541G>A (p.Val1181Ile) http://identifiers.org/clinvar/210539 ^@ NM_153252.4(BRWD3):c.3324A>G (p.Gly1108=) http://identifiers.org/clinvar/210538 ^@ NM_153252.4(BRWD3):c.2105G>A (p.Ser702Asn) http://identifiers.org/clinvar/210537 ^@ NM_153252.4(BRWD3):c.1755T>G (p.Pro585=) http://identifiers.org/clinvar/210543 ^@ NM_153252.4(BRWD3):c.597A>C (p.Ser199=) http://identifiers.org/clinvar/212691 ^@ NM_021998.4(ZNF711):c.320A>G (p.Asp107Gly) http://identifiers.org/clinvar/212692 ^@ NM_021998.4(ZNF711):c.579T>G (p.Asp193Glu) http://identifiers.org/clinvar/212693 ^@ NM_021998.4(ZNF711):c.829G>A (p.Ala277Thr) http://identifiers.org/clinvar/212690 ^@ NM_021998.4(ZNF711):c.1700G>T (p.Cys567Phe) http://identifiers.org/clinvar/210317 ^@ NM_139058.2(ARX):c.1120-82_1469dup http://identifiers.org/clinvar/211468 ^@ NM_001110792.1:c.384_1164del http://identifiers.org/clinvar/211716 ^@ NM_022455.4(NSD1):c.(?_-138)_(7458_?)del http://identifiers.org/clinvar/212026 ^@ NM_005105.4(RBM8A):c.*2586G= http://identifiers.org/clinvar/212142 ^@ NM_004168.3(SDHA):c.1274T>G (p.Val425Gly) http://identifiers.org/clinvar/212143 ^@ NM_004168.3(SDHA):c.1591G>A (p.Val531Met) http://identifiers.org/clinvar/212144 ^@ NM_004168.3(SDHA):c.994C>G (p.Pro332Ala) http://identifiers.org/clinvar/212706 ^@ NM_006186.3(NR4A2):c.357G>T (p.Ser119=) http://identifiers.org/clinvar/212705 ^@ NM_000372.4(TYR):c.580delA (p.Ile194Serfs) http://identifiers.org/clinvar/212709 ^@ NM_000693.3(ALDH1A3):c.1514T>C (p.Ile505Thr) http://identifiers.org/clinvar/212708 ^@ NR_122031.1(GAS8-AS1):n.692_693insCTGCGGGGCAGC http://identifiers.org/clinvar/212710 ^@ NM_003593.2(FOXN1):c.146C>T (p.Ser49Leu) http://identifiers.org/clinvar/212711 ^@ NM_025000.3(DCAF17):c.270delA (p.Lys90Asnfs) http://identifiers.org/clinvar/212717 ^@ NM_032354.3(TMEM107):c.316_318delTTC (p.Phe106del) http://identifiers.org/clinvar/212722 ^@ NM_018136.4(ASPM):c.8558G>A (p.Arg2853Gln) http://identifiers.org/clinvar/212723 ^@ NM_001005463.2(EBF3):c.1101+1G>T http://identifiers.org/clinvar/212724 ^@ NM_003199.2(TCF4):c.978delAinsGG (p.Ala327Glyfs) http://identifiers.org/clinvar/212725 ^@ NM_014801.3(PCNX2):c.4125_4126delAA (p.Asp1377Serfs) http://identifiers.org/clinvar/212726 ^@ NM_014801.3(PCNX2):c.3526C>T (p.His1176Tyr) http://identifiers.org/clinvar/212727 ^@ NM_000350.2(ABCA4):c.1964T>G (p.Phe655Cys) http://identifiers.org/clinvar/212737 ^@ NM_001271208.1(NEB):c.24582_24585dupTATT (p.Ser8196Tyrfs) http://identifiers.org/clinvar/212735 ^@ NM_133259.3(LRPPRC):c.3286delC (p.His1096Thrfs) http://identifiers.org/clinvar/212741 ^@ NM_000341.3(SLC3A1):c.1275_1276dupTG (p.Glu426Valfs) http://identifiers.org/clinvar/212728 ^@ NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) http://identifiers.org/clinvar/212732 ^@ NM_006371.4(CRTAP):c.471+2C>G http://identifiers.org/clinvar/212731 ^@ NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) http://identifiers.org/clinvar/212734 ^@ NM_001184705.2(HADH):c.676T>C (p.Tyr226His) http://identifiers.org/clinvar/212738 ^@ NM_138694.3(PKHD1):c.5023delG (p.Ala1675Profs) http://identifiers.org/clinvar/212739 ^@ NM_001077365.1(POMT1):c.558G>A (p.Trp186Ter) http://identifiers.org/clinvar/212733 ^@ NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter) http://identifiers.org/clinvar/212730 ^@ NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) http://identifiers.org/clinvar/212740 ^@ NM_014363.5(SACS):c.8848_8849dupCA (p.Val2951Metfs) http://identifiers.org/clinvar/212742 ^@ NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) http://identifiers.org/clinvar/212729 ^@ NM_001139.2(ALOX12B):c.1579G>A (p.Val527Met) http://identifiers.org/clinvar/212736 ^@ NM_000262.2(NAGA):c.606C>A (p.Tyr202Ter) http://identifiers.org/clinvar/212743 ^@ NM_001128835.2(TRAPPC2):c.12G>A (p.Trp4Ter) http://identifiers.org/clinvar/212748 ^@ NM_002230.2(JUP):c.71C>A (p.Ser24Ter) http://identifiers.org/clinvar/212749 ^@ NM_002230.2(JUP):c.468G>A (p.Pro156=) http://identifiers.org/clinvar/212750 ^@ NM_002230.2(JUP):c.1615C>T (p.Gln539Ter) http://identifiers.org/clinvar/212751 ^@ NM_002230.2(JUP):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/212765 ^@ NM_016008.3(DYNC2LI1):c.349C>G (p.Leu117Val) http://identifiers.org/clinvar/212766 ^@ NM_016008.3(DYNC2LI1):c.372G>A (p.Trp124Ter) http://identifiers.org/clinvar/212764 ^@ NM_016008.3(DYNC2LI1):c.993+1G>A http://identifiers.org/clinvar/212768 ^@ NM_016008.3(DYNC2LI1):c.993+3A>G http://identifiers.org/clinvar/212767 ^@ NM_016008.3(DYNC2LI1):c.1000G>T (p.Glu334Ter) http://identifiers.org/clinvar/212775 ^@ NM_002140.4(HNRNPK):c.953+1dupG http://identifiers.org/clinvar/212776 ^@ NM_002140.4(HNRNPK):c.257G>A (p.Arg86His) http://identifiers.org/clinvar/212778 ^@ NM_000151.3(G6PC):c.*3G>A http://identifiers.org/clinvar/212779 ^@ NM_213595.3(ISCU):c.*14G>A http://identifiers.org/clinvar/212780 ^@ NM_025215.5(PUS1):c.*16C>T http://identifiers.org/clinvar/212781 ^@ NM_000093.4(COL5A1):c.*14C>T http://identifiers.org/clinvar/212789 ^@ NM_000157.3(GBA):c.1220T>C (p.Ile407Thr) http://identifiers.org/clinvar/242534 ^@ NM_020705.2(TBC1D24):c.338C>A (p.Ala113Asp) http://identifiers.org/clinvar/242533 ^@ NM_020705.2(TBC1D24):c.476T>C (p.Leu159Pro) http://identifiers.org/clinvar/213833 ^@ NM_003238.3(TGFB2):c.-5A>T http://identifiers.org/clinvar/213834 ^@ NM_003238.3(TGFB2):c.114G>A (p.Glu38=) http://identifiers.org/clinvar/213850 ^@ NM_003238.4(TGFB2):c.194C>T (p.Pro65Leu) http://identifiers.org/clinvar/213839 ^@ NM_003238.4(TGFB2):c.199G>A (p.Val67Met) http://identifiers.org/clinvar/213851 ^@ NM_003238.4(TGFB2):c.236A>G (p.Gln79Arg) http://identifiers.org/clinvar/213835 ^@ NM_003238.3(TGFB2):c.272G>A (p.Arg91His) http://identifiers.org/clinvar/213840 ^@ NM_003238.3(TGFB2):c.356C>T (p.Pro119Leu) http://identifiers.org/clinvar/213852 ^@ NM_003238.4(TGFB2):c.356delC (p.Pro119Argfs) http://identifiers.org/clinvar/213836 ^@ NM_003238.3(TGFB2):c.357G>A (p.Pro119=) http://identifiers.org/clinvar/213837 ^@ NM_003238.4(TGFB2):c.371G>A (p.Arg124Lys) http://identifiers.org/clinvar/213841 ^@ NM_003238.4(TGFB2):c.583G>T (p.Glu195Ter) http://identifiers.org/clinvar/213848 ^@ NM_003238.4(TGFB2):c.644_645insT (p.Arg216Glnfs) http://identifiers.org/clinvar/213842 ^@ NM_003238.4(TGFB2):c.663A>T (p.Lys221Asn) http://identifiers.org/clinvar/213849 ^@ NM_003238.4(TGFB2):c.821dupA (p.Asn274Lysfs) http://identifiers.org/clinvar/213843 ^@ NM_003238.4(TGFB2):c.823A>G (p.Ser275Gly) http://identifiers.org/clinvar/213844 ^@ NM_003238.4(TGFB2):c.893G>A (p.Arg298Gln) http://identifiers.org/clinvar/213845 ^@ NM_003238.3(TGFB2):c.895C>T (p.Arg299Trp) http://identifiers.org/clinvar/213846 ^@ NM_003238.4(TGFB2):c.953G>T (p.Cys318Phe) http://identifiers.org/clinvar/213838 ^@ NM_003238.4(TGFB2):c.1239C>T (p.Cys413=) http://identifiers.org/clinvar/213665 ^@ NM_003036.3(SKI):c.138C>T (p.Ala46=) http://identifiers.org/clinvar/213681 ^@ NM_003036.3(SKI):c.294C>T (p.Thr98=) http://identifiers.org/clinvar/213682 ^@ NM_003036.3(SKI):c.360C>T (p.Arg120=) http://identifiers.org/clinvar/213683 ^@ NM_003036.3(SKI):c.417C>T (p.Ile139=) http://identifiers.org/clinvar/213703 ^@ NM_003036.3(SKI):c.499_500delCTinsGG (p.Leu167Gly) http://identifiers.org/clinvar/213684 ^@ NM_003036.3(SKI):c.539C>T (p.Thr180Met) http://identifiers.org/clinvar/213685 ^@ NM_003036.3(SKI):c.640A>G (p.Ser214Gly) http://identifiers.org/clinvar/213663 ^@ NM_003036.3(SKI):c.799C>T (p.Leu267=) http://identifiers.org/clinvar/213686 ^@ NM_003036.3(SKI):c.919G>A (p.Val307Met) http://identifiers.org/clinvar/213687 ^@ NM_003036.3(SKI):c.938A>G (p.Tyr313Cys) http://identifiers.org/clinvar/213664 ^@ NM_003036.3(SKI):c.948G>A (p.Lys316=) http://identifiers.org/clinvar/213688 ^@ NM_003036.3(SKI):c.1000C>T (p.Pro334Ser) http://identifiers.org/clinvar/213666 ^@ NM_003036.3(SKI):c.1033G>A (p.Ala345Thr) http://identifiers.org/clinvar/213689 ^@ NM_003036.3(SKI):c.1070G>A (p.Arg357Gln) http://identifiers.org/clinvar/213690 ^@ NM_003036.3(SKI):c.1139G>A (p.Arg380Gln) http://identifiers.org/clinvar/213667 ^@ NM_003036.3(SKI):c.1162G>A (p.Ala388Thr) http://identifiers.org/clinvar/213668 ^@ NM_003036.3(SKI):c.1163C>T (p.Ala388Val) http://identifiers.org/clinvar/213691 ^@ NM_003036.3(SKI):c.1183C>T (p.Pro395Ser) http://identifiers.org/clinvar/213692 ^@ NM_003036.3(SKI):c.1196C>T (p.Ala399Val) http://identifiers.org/clinvar/213669 ^@ NM_003036.3(SKI):c.1211+10C>T http://identifiers.org/clinvar/213670 ^@ NM_003036.3(SKI):c.1211+11G>A http://identifiers.org/clinvar/213671 ^@ NM_003036.3(SKI):c.1212-8C>T http://identifiers.org/clinvar/213693 ^@ NM_003036.3(SKI):c.1247C>T (p.Ala416Val) http://identifiers.org/clinvar/213707 ^@ NM_003036.3(SKI):c.1264G>A (p.Ala422Thr) http://identifiers.org/clinvar/213694 ^@ NM_003036.3(SKI):c.1301C>T (p.Pro434Leu) http://identifiers.org/clinvar/213672 ^@ NM_003036.3(SKI):c.1338C>T (p.Leu446=) http://identifiers.org/clinvar/213673 ^@ NM_003036.3(SKI):c.1410C>T (p.Pro470=) http://identifiers.org/clinvar/213674 ^@ NM_003036.3(SKI):c.1527C>T (p.Ser509=) http://identifiers.org/clinvar/213695 ^@ NM_003036.3(SKI):c.1528G>A (p.Ala510Thr) http://identifiers.org/clinvar/213696 ^@ NM_003036.3(SKI):c.1555C>T (p.Arg519Cys) http://identifiers.org/clinvar/213675 ^@ NM_003036.3(SKI):c.1556G>A (p.Arg519His) http://identifiers.org/clinvar/213676 ^@ NM_003036.3(SKI):c.1573G>A (p.Val525Ile) http://identifiers.org/clinvar/213704 ^@ NM_003036.3(SKI):c.1584_1586delTGC (p.Ala530del) http://identifiers.org/clinvar/213677 ^@ NM_003036.3(SKI):c.1593T>C (p.Pro531=) http://identifiers.org/clinvar/213697 ^@ NM_003036.3(SKI):c.1619C>T (p.Ala540Val) http://identifiers.org/clinvar/213678 ^@ NM_003036.3(SKI):c.1632C>T (p.His544=) http://identifiers.org/clinvar/213698 ^@ NM_003036.3(SKI):c.1877A>T (p.Lys626Met) http://identifiers.org/clinvar/213705 ^@ NM_003036.3(SKI):c.1877_1879delAGA (p.Lys626del) http://identifiers.org/clinvar/213699 ^@ NM_003036.3(SKI):c.2007C>G (p.Asp669Glu) http://identifiers.org/clinvar/213709 ^@ NM_003036.3(SKI):c.2056G>A (p.Ala686Thr) http://identifiers.org/clinvar/213710 ^@ NM_003036.3(SKI):c.2128T>C (p.Trp710Arg) http://identifiers.org/clinvar/213679 ^@ NM_003036.3(SKI):c.2141G>A (p.Arg714His) http://identifiers.org/clinvar/213680 ^@ NM_003036.3(SKI):c.2153C>G (p.Ala718Gly) http://identifiers.org/clinvar/213700 ^@ NM_003036.3(SKI):c.2174A>C (p.Glu725Ala) http://identifiers.org/clinvar/213701 ^@ NM_003036.3(SKI):c.2183C>T (p.Pro728Leu) http://identifiers.org/clinvar/213087 ^@ NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) http://identifiers.org/clinvar/213132 ^@ NM_000393.4(COL5A2):c.4451G>A (p.Gly1484Asp) http://identifiers.org/clinvar/213086 ^@ NM_000393.4(COL5A2):c.4450G>A (p.Gly1484Ser) http://identifiers.org/clinvar/213131 ^@ NM_000393.4(COL5A2):c.4438G>C (p.Val1480Leu) http://identifiers.org/clinvar/213130 ^@ NM_000393.4(COL5A2):c.4358G>A (p.Arg1453Gln) http://identifiers.org/clinvar/213129 ^@ NM_000393.4(COL5A2):c.4325G>A (p.Arg1442Gln) http://identifiers.org/clinvar/213128 ^@ NM_000393.4(COL5A2):c.4295A>T (p.Asp1432Val) http://identifiers.org/clinvar/213127 ^@ NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) http://identifiers.org/clinvar/213085 ^@ NM_000393.4(COL5A2):c.4197G>A (p.Gln1399=) http://identifiers.org/clinvar/213084 ^@ NM_000393.4(COL5A2):c.4173C>G (p.Arg1391=) http://identifiers.org/clinvar/213126 ^@ NM_000393.4(COL5A2):c.4133A>G (p.Gln1378Arg) http://identifiers.org/clinvar/213160 ^@ NM_000393.4(COL5A2):c.4068C>A (p.Asp1356Glu) http://identifiers.org/clinvar/213125 ^@ NM_000393.4(COL5A2):c.4067A>G (p.Asp1356Gly) http://identifiers.org/clinvar/213124 ^@ NM_000393.4(COL5A2):c.4020C>A (p.Asn1340Lys) http://identifiers.org/clinvar/213123 ^@ NM_000393.4(COL5A2):c.3926G>A (p.Gly1309Asp) http://identifiers.org/clinvar/213083 ^@ NM_000393.4(COL5A2):c.3728G>A (p.Ser1243Asn) http://identifiers.org/clinvar/213159 ^@ NM_000393.4(COL5A2):c.3716A>G (p.His1239Arg) http://identifiers.org/clinvar/213158 ^@ NM_000393.4(COL5A2):c.3650C>G (p.Pro1217Arg) http://identifiers.org/clinvar/213122 ^@ NM_000393.4(COL5A2):c.3583C>G (p.Pro1195Ala) http://identifiers.org/clinvar/213157 ^@ NM_000393.4(COL5A2):c.3491G>A (p.Gly1164Glu) http://identifiers.org/clinvar/213121 ^@ NM_000393.4(COL5A2):c.3443C>T (p.Thr1148Ile) http://identifiers.org/clinvar/213119 ^@ NM_000393.4(COL5A2):c.3407G>A (p.Arg1136Gln) http://identifiers.org/clinvar/213118 ^@ NM_000393.4(COL5A2):c.3391G>A (p.Gly1131Ser) http://identifiers.org/clinvar/213117 ^@ NM_000393.4(COL5A2):c.3385G>A (p.Asp1129Asn) http://identifiers.org/clinvar/213156 ^@ NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) http://identifiers.org/clinvar/213116 ^@ NM_000393.4(COL5A2):c.3308C>T (p.Pro1103Leu) http://identifiers.org/clinvar/213115 ^@ NM_000393.4(COL5A2):c.3268C>T (p.Pro1090Ser) http://identifiers.org/clinvar/213155 ^@ NM_000393.4(COL5A2):c.3208C>T (p.Arg1070Cys) http://identifiers.org/clinvar/213114 ^@ NM_000393.4(COL5A2):c.3178C>T (p.Arg1060Trp) http://identifiers.org/clinvar/213154 ^@ NM_000393.4(COL5A2):c.3170C>A (p.Thr1057Asn) http://identifiers.org/clinvar/213082 ^@ NM_000393.4(COL5A2):c.3039+7A>G http://identifiers.org/clinvar/213153 ^@ NM_000393.4(COL5A2):c.3001C>T (p.Arg1001Cys) http://identifiers.org/clinvar/213113 ^@ NM_000393.4(COL5A2):c.2993C>T (p.Pro998Leu) http://identifiers.org/clinvar/213112 ^@ NM_000393.4(COL5A2):c.2963C>T (p.Thr988Met) http://identifiers.org/clinvar/213152 ^@ NM_000393.4(COL5A2):c.2947C>T (p.Pro983Ser) http://identifiers.org/clinvar/213111 ^@ NM_000393.4(COL5A2):c.2854C>T (p.Arg952Cys) http://identifiers.org/clinvar/213110 ^@ NM_000393.4(COL5A2):c.2854C>A (p.Arg952Ser) http://identifiers.org/clinvar/213081 ^@ NM_000393.4(COL5A2):c.2770-15delT http://identifiers.org/clinvar/213080 ^@ NM_000393.4(COL5A2):c.2769+19A>T http://identifiers.org/clinvar/213092 ^@ NM_000393.4(COL5A2):c.2741C>T (p.Ala914Val) http://identifiers.org/clinvar/213079 ^@ NM_000393.4(COL5A2):c.2716-4C>T http://identifiers.org/clinvar/213109 ^@ NM_000393.4(COL5A2):c.2648C>A (p.Ser883Tyr) http://identifiers.org/clinvar/213151 ^@ NM_000393.4(COL5A2):c.2557C>A (p.Pro853Thr) http://identifiers.org/clinvar/213108 ^@ NM_000393.4(COL5A2):c.2549C>T (p.Pro850Leu) http://identifiers.org/clinvar/213107 ^@ NM_000393.4(COL5A2):c.2533G>A (p.Val845Ile) http://identifiers.org/clinvar/213150 ^@ NM_000393.4(COL5A2):c.2408T>C (p.Leu803Ser) http://identifiers.org/clinvar/213078 ^@ NM_000393.4(COL5A2):c.2338-6T>C http://identifiers.org/clinvar/213106 ^@ NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) http://identifiers.org/clinvar/213105 ^@ NM_000393.4(COL5A2):c.2263A>C (p.Thr755Pro) http://identifiers.org/clinvar/213104 ^@ NM_000393.4(COL5A2):c.2230-16T>A http://identifiers.org/clinvar/213103 ^@ NM_000393.4(COL5A2):c.2156G>A (p.Arg719Lys) http://identifiers.org/clinvar/213077 ^@ NM_000393.4(COL5A2):c.2086-12delA http://identifiers.org/clinvar/213102 ^@ NM_000393.4(COL5A2):c.2075C>G (p.Pro692Arg) http://identifiers.org/clinvar/213076 ^@ NM_000393.4(COL5A2):c.1977+6T>A http://identifiers.org/clinvar/213148 ^@ NM_000393.4(COL5A2):c.1853G>A (p.Gly618Asp) http://identifiers.org/clinvar/213147 ^@ NM_000393.4(COL5A2):c.1766C>T (p.Pro589Leu) http://identifiers.org/clinvar/213146 ^@ NM_000393.4(COL5A2):c.1716+5G>A http://identifiers.org/clinvar/213145 ^@ NM_000393.4(COL5A2):c.1699G>A (p.Gly567Arg) http://identifiers.org/clinvar/213099 ^@ NM_000393.4(COL5A2):c.1633C>T (p.Arg545Trp) http://identifiers.org/clinvar/213098 ^@ NM_000393.4(COL5A2):c.1621G>T (p.Ala541Ser) http://identifiers.org/clinvar/213097 ^@ NM_000393.4(COL5A2):c.1579C>T (p.Arg527Cys) http://identifiers.org/clinvar/213096 ^@ NM_000393.4(COL5A2):c.1492G>A (p.Gly498Ser) http://identifiers.org/clinvar/213075 ^@ NM_000393.4(COL5A2):c.1456-20T>C http://identifiers.org/clinvar/213074 ^@ NM_000393.4(COL5A2):c.1454C>A (p.Pro485Gln) http://identifiers.org/clinvar/213095 ^@ NM_000393.4(COL5A2):c.1373C>G (p.Thr458Ser) http://identifiers.org/clinvar/212979 ^@ NM_000393.4(COL5A2):c.1301C>T (p.Thr434Met) http://identifiers.org/clinvar/213094 ^@ NM_000393.4(COL5A2):c.1292A>G (p.Lys431Arg) http://identifiers.org/clinvar/213073 ^@ NM_000393.4(COL5A2):c.1188C>T (p.Gly396=) http://identifiers.org/clinvar/213144 ^@ NM_000393.4(COL5A2):c.1184G>A (p.Arg395Gln) http://identifiers.org/clinvar/213093 ^@ NM_000393.4(COL5A2):c.1056T>G (p.Ala352=) http://identifiers.org/clinvar/213143 ^@ NM_000393.4(COL5A2):c.712C>T (p.Pro238Ser) http://identifiers.org/clinvar/213091 ^@ NM_000393.4(COL5A2):c.698C>T (p.Ala233Val) http://identifiers.org/clinvar/213161 ^@ NM_000393.4(COL5A2):c.437G>A (p.Arg146Gln) http://identifiers.org/clinvar/213142 ^@ NM_000393.4(COL5A2):c.407C>T (p.Pro136Leu) http://identifiers.org/clinvar/213141 ^@ NM_000393.4(COL5A2):c.398C>T (p.Pro133Leu) http://identifiers.org/clinvar/213140 ^@ NM_000393.4(COL5A2):c.376G>A (p.Gly126Ser) http://identifiers.org/clinvar/213137 ^@ NM_000393.4(COL5A2):c.329G>A (p.Gly110Glu) http://identifiers.org/clinvar/213136 ^@ NM_000393.4(COL5A2):c.322+1G>C http://identifiers.org/clinvar/213135 ^@ NM_000393.4(COL5A2):c.284T>A (p.Val95Asp) http://identifiers.org/clinvar/213134 ^@ NM_000393.4(COL5A2):c.263C>A (p.Pro88His) http://identifiers.org/clinvar/213133 ^@ NM_000393.4(COL5A2):c.162G>T (p.Trp54Cys) http://identifiers.org/clinvar/213090 ^@ NM_000393.4(COL5A2):c.75A>G (p.Lys25=) http://identifiers.org/clinvar/213139 ^@ NM_000393.4(COL5A2):c.34C>T (p.Leu12Phe) http://identifiers.org/clinvar/213089 ^@ NM_000393.4(COL5A2):c.33C>T (p.Leu11=) http://identifiers.org/clinvar/213138 ^@ NM_000393.4(COL5A2):c.5T>C (p.Met2Thr) http://identifiers.org/clinvar/213088 ^@ NM_000393.4(COL5A2):c.-16_-15insCTAACCCACATCAT http://identifiers.org/clinvar/212814 ^@ NM_001204.6(BMPR2):c.186dupA (p.Gly63Argfs) http://identifiers.org/clinvar/212816 ^@ NM_001204.6(BMPR2):c.295T>C (p.Cys99Arg) http://identifiers.org/clinvar/212817 ^@ NM_001204.6(BMPR2):c.377A>G (p.Asn126Ser) http://identifiers.org/clinvar/212810 ^@ NM_001204.6(BMPR2):c.797G>C (p.Arg266Thr) http://identifiers.org/clinvar/212809 ^@ NM_001204.6(BMPR2):c.846T>G (p.Tyr282Ter) http://identifiers.org/clinvar/212815 ^@ NM_001204.6(BMPR2):c.853-2A>G http://identifiers.org/clinvar/212811 ^@ NM_001204.6(BMPR2):c.1128+1G>A http://identifiers.org/clinvar/212812 ^@ NM_001204.6(BMPR2):c.1459G>T (p.Asp487Tyr) http://identifiers.org/clinvar/213911 ^@ NM_003242.5(TGFBR2):c.94+16260C>G http://identifiers.org/clinvar/213912 ^@ NM_003242.5(TGFBR2):c.94+16263A>C http://identifiers.org/clinvar/213913 ^@ NM_003242.5(TGFBR2):c.94+16293C>A http://identifiers.org/clinvar/213938 ^@ NM_003242.5(TGFBR2):c.115A>T (p.Thr39Ser) http://identifiers.org/clinvar/213914 ^@ NM_003242.5(TGFBR2):c.296C>T (p.Thr99Ile) http://identifiers.org/clinvar/213939 ^@ NM_003242.5(TGFBR2):c.367A>T (p.Met123Leu) http://identifiers.org/clinvar/213915 ^@ NM_003242.5(TGFBR2):c.412T>G (p.Cys138Gly) http://identifiers.org/clinvar/213905 ^@ NM_003242.5(TGFBR2):c.437A>G (p.Asn146Ser) http://identifiers.org/clinvar/213940 ^@ NM_003242.5(TGFBR2):c.454G>A (p.Glu152Lys) http://identifiers.org/clinvar/213937 ^@ NM_003242.5(TGFBR2):c.455-2delA http://identifiers.org/clinvar/213916 ^@ NM_003242.5(TGFBR2):c.551T>A (p.Ile184Asn) http://identifiers.org/clinvar/213917 ^@ NM_003242.5(TGFBR2):c.701A>T (p.Asn234Ile) http://identifiers.org/clinvar/213942 ^@ NM_003242.5(TGFBR2):c.760C>T (p.Arg254Cys) http://identifiers.org/clinvar/213943 ^@ NM_003242.5(TGFBR2):c.902A>G (p.His301Arg) http://identifiers.org/clinvar/213906 ^@ NM_003242.5(TGFBR2):c.915C>T (p.Leu305=) http://identifiers.org/clinvar/213944 ^@ NM_003242.5(TGFBR2):c.964T>G (p.Trp322Gly) http://identifiers.org/clinvar/213918 ^@ NM_003242.5(TGFBR2):c.998T>A (p.Leu333Gln) http://identifiers.org/clinvar/213945 ^@ NM_003242.5(TGFBR2):c.1016G>T (p.Arg339Leu) http://identifiers.org/clinvar/213920 ^@ NM_003242.5(TGFBR2):c.1066C>G (p.Arg356Gly) http://identifiers.org/clinvar/213921 ^@ NM_003242.5(TGFBR2):c.1085A>G (p.His362Arg) http://identifiers.org/clinvar/213922 ^@ NM_003242.5(TGFBR2):c.1120C>T (p.Pro374Ser) http://identifiers.org/clinvar/213907 ^@ NM_003242.5(TGFBR2):c.1125C>T (p.Ile375=) http://identifiers.org/clinvar/213923 ^@ NM_003242.5(TGFBR2):c.1145G>A (p.Ser382Asn) http://identifiers.org/clinvar/213925 ^@ NM_003242.5(TGFBR2):c.1190A>G (p.Asp397Gly) http://identifiers.org/clinvar/213908 ^@ NM_003242.5(TGFBR2):c.1208G>A (p.Arg403His) http://identifiers.org/clinvar/213926 ^@ NM_003242.5(TGFBR2):c.1217C>T (p.Pro406Leu) http://identifiers.org/clinvar/213927 ^@ NM_003242.5(TGFBR2):c.1255G>T (p.Val419Leu) http://identifiers.org/clinvar/213928 ^@ NM_003242.5(TGFBR2):c.1256T>A (p.Val419Glu) http://identifiers.org/clinvar/213929 ^@ NM_003242.5(TGFBR2):c.1276G>A (p.Ala426Thr) http://identifiers.org/clinvar/213930 ^@ NM_003242.5(TGFBR2):c.1277C>A (p.Ala426Asp) http://identifiers.org/clinvar/213931 ^@ NM_003242.5(TGFBR2):c.1279C>T (p.Pro427Ser) http://identifiers.org/clinvar/213932 ^@ NM_003242.5(TGFBR2):c.1338T>G (p.Asp446Glu) http://identifiers.org/clinvar/213933 ^@ NM_003242.5(TGFBR2):c.1418C>T (p.Pro473Leu) http://identifiers.org/clinvar/213934 ^@ NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) http://identifiers.org/clinvar/213910 ^@ NM_003242.5(TGFBR2):c.1525-8C>T http://identifiers.org/clinvar/213935 ^@ NM_003242.5(TGFBR2):c.1526G>T (p.Gly509Val) http://identifiers.org/clinvar/213946 ^@ NM_003242.5(TGFBR2):c.1546A>T (p.Thr516Ser) http://identifiers.org/clinvar/213936 ^@ NM_003242.5(TGFBR2):c.1564G>A (p.Asp522Asn) http://identifiers.org/clinvar/213656 ^@ NM_016599.4(MYOZ2):c.181C>T (p.Arg61Cys) http://identifiers.org/clinvar/213652 ^@ NM_016599.4(MYOZ2):c.220C>T (p.Gln74Ter) http://identifiers.org/clinvar/213654 ^@ NM_016599.4(MYOZ2):c.292G>C (p.Glu98Gln) http://identifiers.org/clinvar/213657 ^@ NM_016599.4(MYOZ2):c.314C>G (p.Pro105Arg) http://identifiers.org/clinvar/213655 ^@ NM_016599.4(MYOZ2):c.479C>T (p.Pro160Leu) http://identifiers.org/clinvar/213651 ^@ NM_016599.4(MYOZ2):c.786A>C (p.Glu262Asp) http://identifiers.org/clinvar/213378 ^@ NM_001999.3(FBN2):c.8701G>A (p.Glu2901Lys) http://identifiers.org/clinvar/213432 ^@ NM_001999.3(FBN2):c.8678A>T (p.Asp2893Val) http://identifiers.org/clinvar/213377 ^@ NM_001999.3(FBN2):c.8674G>T (p.Asp2892Tyr) http://identifiers.org/clinvar/213431 ^@ NM_001999.3(FBN2):c.8648T>C (p.Leu2883Pro) http://identifiers.org/clinvar/213430 ^@ NM_001999.3(FBN2):c.8644G>C (p.Glu2882Gln) http://identifiers.org/clinvar/213376 ^@ NM_001999.3(FBN2):c.8537G>A (p.Arg2846His) http://identifiers.org/clinvar/213258 ^@ NM_001999.3(FBN2):c.8530G>A (p.Val2844Ile) http://identifiers.org/clinvar/213375 ^@ NM_001999.3(FBN2):c.8498G>A (p.Arg2833His) http://identifiers.org/clinvar/213374 ^@ NM_001999.3(FBN2):c.8497C>T (p.Arg2833Cys) http://identifiers.org/clinvar/213373 ^@ NM_001999.3(FBN2):c.8426T>C (p.Leu2809Pro) http://identifiers.org/clinvar/213372 ^@ NM_001999.3(FBN2):c.8387G>C (p.Ser2796Thr) http://identifiers.org/clinvar/213257 ^@ NM_001999.3(FBN2):c.8344C>T (p.His2782Tyr) http://identifiers.org/clinvar/213371 ^@ NM_001999.3(FBN2):c.8332A>C (p.Lys2778Gln) http://identifiers.org/clinvar/213370 ^@ NM_001999.3(FBN2):c.8282C>T (p.Ala2761Val) http://identifiers.org/clinvar/213429 ^@ NM_001999.3(FBN2):c.8279A>C (p.Glu2760Ala) http://identifiers.org/clinvar/213256 ^@ NM_001999.3(FBN2):c.8257G>A (p.Glu2753Lys) http://identifiers.org/clinvar/213255 ^@ NM_001999.3(FBN2):c.8239C>G (p.Leu2747Val) http://identifiers.org/clinvar/213369 ^@ NM_001999.3(FBN2):c.8207G>A (p.Gly2736Glu) http://identifiers.org/clinvar/213368 ^@ NM_001999.3(FBN2):c.8193-7C>G http://identifiers.org/clinvar/213428 ^@ NM_001999.3(FBN2):c.8086G>A (p.Val2696Met) http://identifiers.org/clinvar/213254 ^@ NM_001999.3(FBN2):c.8082C>A (p.His2694Gln) http://identifiers.org/clinvar/213387 ^@ NM_001999.3(FBN2):c.8061_8067delCCAGTTCinsG (p.Asp2687_Phe2689delinsGlu) http://identifiers.org/clinvar/213367 ^@ NM_001999.3(FBN2):c.7960+5G>A http://identifiers.org/clinvar/213366 ^@ NM_001999.3(FBN2):c.7942C>A (p.Gln2648Lys) http://identifiers.org/clinvar/213365 ^@ NM_001999.3(FBN2):c.7886A>G (p.Gln2629Arg) http://identifiers.org/clinvar/213364 ^@ NM_001999.3(FBN2):c.7690C>G (p.Gln2564Glu) http://identifiers.org/clinvar/213363 ^@ NM_001999.3(FBN2):c.7672T>G (p.Cys2558Gly) http://identifiers.org/clinvar/213362 ^@ NM_001999.3(FBN2):c.7636C>G (p.Leu2546Val) http://identifiers.org/clinvar/213253 ^@ NM_001999.3(FBN2):c.7595-13T>C http://identifiers.org/clinvar/213252 ^@ NM_001999.3(FBN2):c.7593A>G (p.Lys2531=) http://identifiers.org/clinvar/213251 ^@ NM_001999.3(FBN2):c.7471+6G>A http://identifiers.org/clinvar/213427 ^@ NM_001999.3(FBN2):c.7418G>T (p.Arg2473Leu) http://identifiers.org/clinvar/213250 ^@ NM_001999.3(FBN2):c.7405A>G (p.Met2469Val) http://identifiers.org/clinvar/213360 ^@ NM_001999.3(FBN2):c.7400A>G (p.Asn2467Ser) http://identifiers.org/clinvar/213359 ^@ NM_001999.3(FBN2):c.7369C>T (p.Pro2457Ser) http://identifiers.org/clinvar/213358 ^@ NM_001999.3(FBN2):c.7345G>A (p.Asp2449Asn) http://identifiers.org/clinvar/213357 ^@ NM_001999.3(FBN2):c.7331C>T (p.Thr2444Ile) http://identifiers.org/clinvar/213426 ^@ NM_001999.3(FBN2):c.7145G>A (p.Arg2382Gln) http://identifiers.org/clinvar/213356 ^@ NM_001999.3(FBN2):c.7085G>A (p.Arg2362Lys) http://identifiers.org/clinvar/213355 ^@ NM_001999.3(FBN2):c.7057C>T (p.Arg2353Cys) http://identifiers.org/clinvar/213354 ^@ NM_001999.3(FBN2):c.7055G>C (p.Gly2352Ala) http://identifiers.org/clinvar/213249 ^@ NM_001999.3(FBN2):c.7012+7G>A http://identifiers.org/clinvar/213425 ^@ NM_001999.3(FBN2):c.6959T>C (p.Met2320Thr) http://identifiers.org/clinvar/213353 ^@ NM_001999.3(FBN2):c.6955T>C (p.Phe2319Leu) http://identifiers.org/clinvar/213424 ^@ NM_001999.3(FBN2):c.6949G>A (p.Gly2317Ser) http://identifiers.org/clinvar/213423 ^@ NM_001999.3(FBN2):c.6946A>T (p.Ile2316Phe) http://identifiers.org/clinvar/213422 ^@ NM_001999.3(FBN2):c.6923G>A (p.Arg2308Lys) http://identifiers.org/clinvar/213352 ^@ NM_001999.3(FBN2):c.6910G>A (p.Asp2304Asn) http://identifiers.org/clinvar/213248 ^@ NM_001999.3(FBN2):c.6841A>T (p.Ile2281Phe) http://identifiers.org/clinvar/213421 ^@ NM_001999.3(FBN2):c.6719A>G (p.Asn2240Ser) http://identifiers.org/clinvar/213351 ^@ NM_001999.3(FBN2):c.6689A>G (p.Asn2230Ser) http://identifiers.org/clinvar/213350 ^@ NM_001999.3(FBN2):c.6681A>G (p.Thr2227=) http://identifiers.org/clinvar/213349 ^@ NM_001999.3(FBN2):c.6680C>T (p.Thr2227Ile) http://identifiers.org/clinvar/213247 ^@ NM_001999.3(FBN2):c.6666G>A (p.Pro2222=) http://identifiers.org/clinvar/213348 ^@ NM_001999.3(FBN2):c.6658G>A (p.Gly2220Ser) http://identifiers.org/clinvar/213246 ^@ NM_001999.3(FBN2):c.6655A>G (p.Ile2219Val) http://identifiers.org/clinvar/213245 ^@ NM_001999.3(FBN2):c.6615C>T (p.Asp2205=) http://identifiers.org/clinvar/213420 ^@ NM_001999.3(FBN2):c.6598A>G (p.Met2200Val) http://identifiers.org/clinvar/213347 ^@ NM_001999.3(FBN2):c.6539G>A (p.Gly2180Asp) http://identifiers.org/clinvar/213345 ^@ NM_001999.3(FBN2):c.6512-2A>G http://identifiers.org/clinvar/213244 ^@ NM_001999.3(FBN2):c.6512-17G>C http://identifiers.org/clinvar/213419 ^@ NM_001999.3(FBN2):c.6334A>G (p.Lys2112Glu) http://identifiers.org/clinvar/213243 ^@ NM_001999.3(FBN2):c.6285A>G (p.Arg2095=) http://identifiers.org/clinvar/213344 ^@ NM_001999.3(FBN2):c.6253C>G (p.Pro2085Ala) http://identifiers.org/clinvar/213418 ^@ NM_001999.3(FBN2):c.6148A>G (p.Lys2050Glu) http://identifiers.org/clinvar/213417 ^@ NM_001999.3(FBN2):c.6073G>A (p.Gly2025Ser) http://identifiers.org/clinvar/213242 ^@ NM_001999.3(FBN2):c.6063C>T (p.Val2021=) http://identifiers.org/clinvar/213343 ^@ NM_001999.3(FBN2):c.6004A>G (p.Asn2002Asp) http://identifiers.org/clinvar/213241 ^@ NM_001999.3(FBN2):c.6000A>G (p.Leu2000=) http://identifiers.org/clinvar/213240 ^@ NM_001999.3(FBN2):c.5966G>A (p.Arg1989His) http://identifiers.org/clinvar/213342 ^@ NM_001999.3(FBN2):c.5896A>G (p.Thr1966Ala) http://identifiers.org/clinvar/213341 ^@ NM_001999.3(FBN2):c.5834A>G (p.Asn1945Ser) http://identifiers.org/clinvar/213404 ^@ NM_001999.3(FBN2):c.5800+5G>A http://identifiers.org/clinvar/213416 ^@ NM_001999.3(FBN2):c.5692G>C (p.Glu1898Gln) http://identifiers.org/clinvar/213239 ^@ NM_001999.3(FBN2):c.5675-9delC http://identifiers.org/clinvar/213238 ^@ NM_001999.3(FBN2):c.5670T>C (p.Cys1890=) http://identifiers.org/clinvar/213237 ^@ NM_001999.3(FBN2):c.5549-18G>A http://identifiers.org/clinvar/213414 ^@ NM_001999.3(FBN2):c.5447C>T (p.Pro1816Leu) http://identifiers.org/clinvar/213340 ^@ NM_001999.3(FBN2):c.5427T>G (p.Ile1809Met) http://identifiers.org/clinvar/213339 ^@ NM_001999.3(FBN2):c.5426T>C (p.Ile1809Thr) http://identifiers.org/clinvar/213338 ^@ NM_001999.3(FBN2):c.5303T>C (p.Val1768Ala) http://identifiers.org/clinvar/213337 ^@ NM_001999.3(FBN2):c.5275A>C (p.Lys1759Gln) http://identifiers.org/clinvar/213236 ^@ NM_001999.3(FBN2):c.5200+11A>C http://identifiers.org/clinvar/213335 ^@ NM_001999.3(FBN2):c.4949-3T>A http://identifiers.org/clinvar/213413 ^@ NM_001999.3(FBN2):c.4928C>G (p.Pro1643Arg) http://identifiers.org/clinvar/213235 ^@ NM_001999.3(FBN2):c.4902C>T (p.Pro1634=) http://identifiers.org/clinvar/213412 ^@ NM_001999.3(FBN2):c.4867C>G (p.Pro1623Ala) http://identifiers.org/clinvar/213334 ^@ NM_001999.3(FBN2):c.4801G>A (p.Val1601Ile) http://identifiers.org/clinvar/213333 ^@ NM_001999.3(FBN2):c.4757G>A (p.Arg1586Gln) http://identifiers.org/clinvar/213332 ^@ NM_001999.3(FBN2):c.4646A>G (p.Asn1549Ser) http://identifiers.org/clinvar/213331 ^@ NM_001999.3(FBN2):c.4642G>A (p.Val1548Ile) http://identifiers.org/clinvar/213234 ^@ NM_001999.3(FBN2):c.4595-11G>C http://identifiers.org/clinvar/213330 ^@ NM_001999.3(FBN2):c.4594G>A (p.Asp1532Asn) http://identifiers.org/clinvar/213411 ^@ NM_001999.3(FBN2):c.4540C>T (p.His1514Tyr) http://identifiers.org/clinvar/213233 ^@ NM_001999.3(FBN2):c.4515A>G (p.Thr1505=) http://identifiers.org/clinvar/213329 ^@ NM_001999.3(FBN2):c.4474A>T (p.Ile1492Phe) http://identifiers.org/clinvar/213386 ^@ NM_001999.3(FBN2):c.4472-18_4472-17delTTinsA http://identifiers.org/clinvar/213328 ^@ NM_001999.3(FBN2):c.4454A>G (p.Asp1485Gly) http://identifiers.org/clinvar/213327 ^@ NM_001999.3(FBN2):c.4418G>A (p.Arg1473His) http://identifiers.org/clinvar/213326 ^@ NM_001999.3(FBN2):c.4375C>G (p.Leu1459Val) http://identifiers.org/clinvar/213410 ^@ NM_001999.3(FBN2):c.4261A>C (p.Ile1421Leu) http://identifiers.org/clinvar/213325 ^@ NM_001999.3(FBN2):c.4249C>T (p.His1417Tyr) http://identifiers.org/clinvar/213409 ^@ NM_001999.3(FBN2):c.4246A>G (p.Thr1416Ala) http://identifiers.org/clinvar/213408 ^@ NM_001999.3(FBN2):c.4132T>C (p.Cys1378Arg) http://identifiers.org/clinvar/213407 ^@ NM_001999.3(FBN2):c.4102G>A (p.Val1368Met) http://identifiers.org/clinvar/213324 ^@ NM_001999.3(FBN2):c.4087A>G (p.Thr1363Ala) http://identifiers.org/clinvar/213323 ^@ NM_001999.3(FBN2):c.4009A>G (p.Met1337Val) http://identifiers.org/clinvar/213231 ^@ NM_001999.3(FBN2):c.3974-19T>C http://identifiers.org/clinvar/213322 ^@ NM_001999.3(FBN2):c.3932A>G (p.Tyr1311Cys) http://identifiers.org/clinvar/213405 ^@ NM_001999.3(FBN2):c.3883G>A (p.Asp1295Asn) http://identifiers.org/clinvar/213402 ^@ NM_001999.3(FBN2):c.3839C>T (p.Ser1280Leu) http://identifiers.org/clinvar/213401 ^@ NM_001999.3(FBN2):c.3805A>G (p.Ser1269Gly) http://identifiers.org/clinvar/213321 ^@ NM_001999.3(FBN2):c.3793G>A (p.Glu1265Lys) http://identifiers.org/clinvar/213230 ^@ NM_001999.3(FBN2):c.3767A>G (p.Gln1256Arg) http://identifiers.org/clinvar/213320 ^@ NM_001999.3(FBN2):c.3724+2T>C http://identifiers.org/clinvar/213319 ^@ NM_001999.3(FBN2):c.3710G>A (p.Arg1237His) http://identifiers.org/clinvar/213400 ^@ NM_001999.3(FBN2):c.3709C>A (p.Arg1237Ser) http://identifiers.org/clinvar/213317 ^@ NM_001999.3(FBN2):c.3701C>T (p.Thr1234Met) http://identifiers.org/clinvar/213316 ^@ NM_001999.3(FBN2):c.3700A>G (p.Thr1234Ala) http://identifiers.org/clinvar/213313 ^@ NM_001999.3(FBN2):c.3593G>A (p.Cys1198Tyr) http://identifiers.org/clinvar/213312 ^@ NM_001999.3(FBN2):c.3583C>T (p.Arg1195Cys) http://identifiers.org/clinvar/213311 ^@ NM_001999.3(FBN2):c.3566A>C (p.His1189Pro) http://identifiers.org/clinvar/213399 ^@ NM_001999.3(FBN2):c.3565C>T (p.His1189Tyr) http://identifiers.org/clinvar/213310 ^@ NM_001999.3(FBN2):c.3563G>A (p.Gly1188Glu) http://identifiers.org/clinvar/213229 ^@ NM_001999.3(FBN2):c.3518C>G (p.Thr1173Ser) http://identifiers.org/clinvar/213309 ^@ NM_001999.3(FBN2):c.3456G>A (p.Met1152Ile) http://identifiers.org/clinvar/213308 ^@ NM_001999.3(FBN2):c.3442A>G (p.Ser1148Gly) http://identifiers.org/clinvar/213397 ^@ NM_001999.3(FBN2):c.3401C>T (p.Thr1134Ile) http://identifiers.org/clinvar/213228 ^@ NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) http://identifiers.org/clinvar/213307 ^@ NM_001999.3(FBN2):c.3360G>T (p.Arg1120Ser) http://identifiers.org/clinvar/213306 ^@ NM_001999.3(FBN2):c.3341C>T (p.Thr1114Met) http://identifiers.org/clinvar/213305 ^@ NM_001999.3(FBN2):c.3296G>A (p.Arg1099His) http://identifiers.org/clinvar/213304 ^@ NM_001999.3(FBN2):c.3281G>A (p.Gly1094Glu) http://identifiers.org/clinvar/213303 ^@ NM_001999.3(FBN2):c.3253A>C (p.Thr1085Pro) http://identifiers.org/clinvar/213396 ^@ NM_001999.3(FBN2):c.3241C>G (p.Pro1081Ala) http://identifiers.org/clinvar/213302 ^@ NM_001999.3(FBN2):c.3235G>T (p.Ala1079Ser) http://identifiers.org/clinvar/213227 ^@ NM_001999.3(FBN2):c.3217+13G>A http://identifiers.org/clinvar/213301 ^@ NM_001999.3(FBN2):c.3209T>A (p.Phe1070Tyr) http://identifiers.org/clinvar/213300 ^@ NM_001999.3(FBN2):c.3149C>T (p.Thr1050Met) http://identifiers.org/clinvar/213299 ^@ NM_001999.3(FBN2):c.3145G>C (p.Glu1049Gln) http://identifiers.org/clinvar/213395 ^@ NM_001999.3(FBN2):c.3106G>A (p.Glu1036Lys) http://identifiers.org/clinvar/213394 ^@ NM_001999.3(FBN2):c.3088G>C (p.Gly1030Arg) http://identifiers.org/clinvar/213298 ^@ NM_001999.3(FBN2):c.3062G>C (p.Arg1021Pro) http://identifiers.org/clinvar/213297 ^@ NM_001999.3(FBN2):c.3061C>T (p.Arg1021Cys) http://identifiers.org/clinvar/213296 ^@ NM_001999.3(FBN2):c.3057G>C (p.Lys1019Asn) http://identifiers.org/clinvar/213226 ^@ NM_001999.3(FBN2):c.3013T>C (p.Leu1005=) http://identifiers.org/clinvar/213225 ^@ NM_001999.3(FBN2):c.2990-14C>T http://identifiers.org/clinvar/213295 ^@ NM_001999.3(FBN2):c.2968G>A (p.Gly990Arg) http://identifiers.org/clinvar/213294 ^@ NM_001999.3(FBN2):c.2827A>G (p.Arg943Gly) http://identifiers.org/clinvar/213293 ^@ NM_001999.3(FBN2):c.2801G>A (p.Arg934Gln) http://identifiers.org/clinvar/213292 ^@ NM_001999.3(FBN2):c.2779G>A (p.Ala927Thr) http://identifiers.org/clinvar/213393 ^@ NM_001999.3(FBN2):c.2719T>C (p.Cys907Arg) http://identifiers.org/clinvar/213291 ^@ NM_001999.3(FBN2):c.2687G>A (p.Gly896Glu) http://identifiers.org/clinvar/213290 ^@ NM_001999.3(FBN2):c.2679C>G (p.Ser893Arg) http://identifiers.org/clinvar/213289 ^@ NM_001999.3(FBN2):c.2675A>G (p.Asp892Gly) http://identifiers.org/clinvar/213288 ^@ NM_001999.3(FBN2):c.2651G>C (p.Ser884Thr) http://identifiers.org/clinvar/213224 ^@ NM_001999.3(FBN2):c.2625T>C (p.Cys875=) http://identifiers.org/clinvar/213392 ^@ NM_001999.3(FBN2):c.2536G>A (p.Glu846Lys) http://identifiers.org/clinvar/213287 ^@ NM_001999.3(FBN2):c.2480G>A (p.Arg827Gln) http://identifiers.org/clinvar/213286 ^@ NM_001999.3(FBN2):c.2260G>A (p.Gly754Ser) http://identifiers.org/clinvar/213285 ^@ NM_001999.3(FBN2):c.2155T>C (p.Phe719Leu) http://identifiers.org/clinvar/213391 ^@ NM_001999.3(FBN2):c.2108G>A (p.Arg703His) http://identifiers.org/clinvar/213284 ^@ NM_001999.3(FBN2):c.2099C>T (p.Thr700Ile) http://identifiers.org/clinvar/213283 ^@ NM_001999.3(FBN2):c.2042G>A (p.Arg681His) http://identifiers.org/clinvar/213282 ^@ NM_001999.3(FBN2):c.1988A>C (p.Gln663Pro) http://identifiers.org/clinvar/213390 ^@ NM_001999.3(FBN2):c.1924A>G (p.Ile642Val) http://identifiers.org/clinvar/213281 ^@ NM_001999.3(FBN2):c.1922G>A (p.Cys641Tyr) http://identifiers.org/clinvar/213223 ^@ NM_001999.3(FBN2):c.1902T>C (p.Asn634=) http://identifiers.org/clinvar/213280 ^@ NM_001999.3(FBN2):c.1885A>G (p.Asn629Asp) http://identifiers.org/clinvar/213279 ^@ NM_001999.3(FBN2):c.1841A>T (p.Asn614Ile) http://identifiers.org/clinvar/213278 ^@ NM_001999.3(FBN2):c.1813G>A (p.Gly605Ser) http://identifiers.org/clinvar/213384 ^@ NM_001999.3(FBN2):c.1763dupA (p.Asn588Lysfs) http://identifiers.org/clinvar/213222 ^@ NM_001999.3(FBN2):c.1749G>A (p.Gly583=) http://identifiers.org/clinvar/213277 ^@ NM_001999.3(FBN2):c.1727T>C (p.Ile576Thr) http://identifiers.org/clinvar/213276 ^@ NM_001999.3(FBN2):c.1644T>G (p.Asp548Glu) http://identifiers.org/clinvar/213383 ^@ NM_001999.3(FBN2):c.1607_1609delTTG (p.Val536del) http://identifiers.org/clinvar/213263 ^@ NM_001999.3(FBN2):c.1592G>C (p.Gly531Ala) http://identifiers.org/clinvar/213275 ^@ NM_001999.3(FBN2):c.1543T>A (p.Ser515Thr) http://identifiers.org/clinvar/213274 ^@ NM_001999.3(FBN2):c.1526G>T (p.Arg509Leu) http://identifiers.org/clinvar/213273 ^@ NM_001999.3(FBN2):c.1453A>G (p.Ile485Val) http://identifiers.org/clinvar/213272 ^@ NM_001999.3(FBN2):c.1435G>A (p.Gly479Arg) http://identifiers.org/clinvar/213389 ^@ NM_001999.3(FBN2):c.1423G>C (p.Gly475Arg) http://identifiers.org/clinvar/213382 ^@ NM_001999.3(FBN2):c.1345_1350dupAATGGC (p.Gly450_Tyr451insAsnGly) http://identifiers.org/clinvar/213271 ^@ NM_001999.3(FBN2):c.1328C>T (p.Ala443Val) http://identifiers.org/clinvar/213270 ^@ NM_001999.3(FBN2):c.1270G>A (p.Gly424Arg) http://identifiers.org/clinvar/213269 ^@ NM_001999.3(FBN2):c.1201A>G (p.Ile401Val) http://identifiers.org/clinvar/213388 ^@ NM_001999.3(FBN2):c.1181G>A (p.Arg394His) http://identifiers.org/clinvar/213268 ^@ NM_001999.3(FBN2):c.1123T>C (p.Cys375Arg) http://identifiers.org/clinvar/213267 ^@ NM_001999.3(FBN2):c.1055C>T (p.Ser352Leu) http://identifiers.org/clinvar/213221 ^@ NM_001999.3(FBN2):c.973A>G (p.Ile325Val) http://identifiers.org/clinvar/213435 ^@ NM_001999.3(FBN2):c.905G>C (p.Arg302Thr) http://identifiers.org/clinvar/213259 ^@ NM_001999.3(FBN2):c.829G>A (p.Val277Ile) http://identifiers.org/clinvar/213381 ^@ NM_001999.3(FBN2):c.811A>C (p.Thr271Pro) http://identifiers.org/clinvar/213433 ^@ NM_001999.3(FBN2):c.809G>A (p.Arg270His) http://identifiers.org/clinvar/213380 ^@ NM_001999.3(FBN2):c.787C>T (p.Arg263Trp) http://identifiers.org/clinvar/213379 ^@ NM_001999.3(FBN2):c.733C>T (p.Arg245Trp) http://identifiers.org/clinvar/213262 ^@ NM_001999.3(FBN2):c.525T>A (p.Cys175Ter) http://identifiers.org/clinvar/213434 ^@ NM_001999.3(FBN2):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/213232 ^@ NM_001999.3(FBN2):c.297T>C (p.Pro99=) http://identifiers.org/clinvar/213385 ^@ NM_001999.3(FBN2):c.287_289delACT (p.Tyr96del) http://identifiers.org/clinvar/213266 ^@ NM_001999.3(FBN2):c.217C>A (p.Arg73Ser) http://identifiers.org/clinvar/213265 ^@ NM_001999.3(FBN2):c.202G>T (p.Ala68Ser) http://identifiers.org/clinvar/213264 ^@ NM_001999.3(FBN2):c.157G>A (p.Gly53Ser) http://identifiers.org/clinvar/213261 ^@ NM_001999.3(FBN2):c.125C>T (p.Pro42Leu) http://identifiers.org/clinvar/213219 ^@ NM_001999.3(FBN2):c.81C>T (p.Ala27=) http://identifiers.org/clinvar/213260 ^@ NM_001999.3(FBN2):c.76A>G (p.Thr26Ala) http://identifiers.org/clinvar/213218 ^@ NM_001999.3(FBN2):c.68C>G (p.Ala23Gly) http://identifiers.org/clinvar/213659 ^@ NM_002890.2(RASA1):c.296C>T (p.Ala99Val) http://identifiers.org/clinvar/213662 ^@ NM_002890.2(RASA1):c.618_621delAAGA (p.Ile206Metfs) http://identifiers.org/clinvar/213658 ^@ NM_002890.2(RASA1):c.1777-14T>A http://identifiers.org/clinvar/213660 ^@ NM_002890.2(RASA1):c.2131C>T (p.Arg711Ter) http://identifiers.org/clinvar/213653 ^@ NM_002890.2(RASA1):c.2184+9_2184+10insGTTAAA http://identifiers.org/clinvar/213661 ^@ NM_002890.2(RASA1):c.2690+1G>A http://identifiers.org/clinvar/213603 ^@ NM_002290.4(LAMA4):c.5423dupT (p.Ser1809Lysfs) http://identifiers.org/clinvar/213578 ^@ NM_002290.4(LAMA4):c.5319A>G (p.Thr1773=) http://identifiers.org/clinvar/213596 ^@ NM_002290.4(LAMA4):c.5288T>C (p.Phe1763Ser) http://identifiers.org/clinvar/213577 ^@ NM_002290.4(LAMA4):c.5186-14G>C http://identifiers.org/clinvar/213609 ^@ NM_002290.4(LAMA4):c.5009G>A (p.Arg1670His) http://identifiers.org/clinvar/213608 ^@ NM_002290.4(LAMA4):c.4984A>G (p.Lys1662Glu) http://identifiers.org/clinvar/213607 ^@ NM_002290.4(LAMA4):c.4562G>A (p.Arg1521His) http://identifiers.org/clinvar/213595 ^@ NM_002290.4(LAMA4):c.4129G>A (p.Glu1377Lys) http://identifiers.org/clinvar/213576 ^@ NM_002290.4(LAMA4):c.3290A>G (p.Asn1097Ser) http://identifiers.org/clinvar/213594 ^@ NM_002290.4(LAMA4):c.3224C>T (p.Pro1075Leu) http://identifiers.org/clinvar/213593 ^@ NM_002290.4(LAMA4):c.3115C>G (p.Arg1039Gly) http://identifiers.org/clinvar/213592 ^@ NM_002290.4(LAMA4):c.3101C>G (p.Ala1034Gly) http://identifiers.org/clinvar/213591 ^@ NM_002290.4(LAMA4):c.3101C>A (p.Ala1034Asp) http://identifiers.org/clinvar/213590 ^@ NM_002290.4(LAMA4):c.3034T>C (p.Tyr1012His) http://identifiers.org/clinvar/213589 ^@ NM_002290.4(LAMA4):c.3033G>T (p.Leu1011Phe) http://identifiers.org/clinvar/213588 ^@ NM_002290.4(LAMA4):c.2758T>G (p.Trp920Gly) http://identifiers.org/clinvar/213575 ^@ NM_002290.4(LAMA4):c.2713A>T (p.Thr905Ser) http://identifiers.org/clinvar/213587 ^@ NM_002290.4(LAMA4):c.2578C>A (p.Pro860Thr) http://identifiers.org/clinvar/213586 ^@ NM_002290.4(LAMA4):c.2321C>A (p.Ala774Asp) http://identifiers.org/clinvar/213573 ^@ NM_002290.4(LAMA4):c.2229G>A (p.Gln743=) http://identifiers.org/clinvar/213605 ^@ NM_002290.4(LAMA4):c.2120A>G (p.Asp707Gly) http://identifiers.org/clinvar/213585 ^@ NM_002290.4(LAMA4):c.1800G>A (p.Lys600=) http://identifiers.org/clinvar/213584 ^@ NM_002290.4(LAMA4):c.1698A>G (p.Gln566=) http://identifiers.org/clinvar/213583 ^@ NM_002290.4(LAMA4):c.1592C>T (p.Ala531Val) http://identifiers.org/clinvar/213582 ^@ NM_002290.4(LAMA4):c.1530+8G>A http://identifiers.org/clinvar/213612 ^@ NM_002290.4(LAMA4):c.1415A>T (p.Asp472Val) http://identifiers.org/clinvar/213611 ^@ NM_002290.4(LAMA4):c.1399G>A (p.Val467Ile) http://identifiers.org/clinvar/213602 ^@ NM_002290.4(LAMA4):c.1297C>T (p.Arg433Trp) http://identifiers.org/clinvar/213604 ^@ NM_002290.4(LAMA4):c.1110delC (p.Ile371Leufs) http://identifiers.org/clinvar/213601 ^@ NM_002290.4(LAMA4):c.946-5T>G http://identifiers.org/clinvar/213600 ^@ NM_002290.4(LAMA4):c.907C>G (p.His303Asp) http://identifiers.org/clinvar/213581 ^@ NM_002290.4(LAMA4):c.808G>A (p.Val270Ile) http://identifiers.org/clinvar/213599 ^@ NM_002290.4(LAMA4):c.719-2A>G http://identifiers.org/clinvar/213580 ^@ NM_002290.4(LAMA4):c.674C>T (p.Ala225Val) http://identifiers.org/clinvar/213598 ^@ NM_002290.4(LAMA4):c.620G>A (p.Gly207Asp) http://identifiers.org/clinvar/213597 ^@ NM_002290.4(LAMA4):c.503G>A (p.Arg168Lys) http://identifiers.org/clinvar/213579 ^@ NM_002290.4(LAMA4):c.422+20G>T http://identifiers.org/clinvar/213610 ^@ NM_002290.4(LAMA4):c.370G>C (p.Gly124Arg) http://identifiers.org/clinvar/213574 ^@ NM_002290.4(LAMA4):c.141G>A (p.Pro47=) http://identifiers.org/clinvar/213572 ^@ NM_002290.4(LAMA4):c.85G>C (p.Asp29His) http://identifiers.org/clinvar/212818 ^@ NM_001753.4(CAV1):c.30+19dupG http://identifiers.org/clinvar/213168 ^@ NM_000501.3(ELN):c.-38C>T http://identifiers.org/clinvar/213185 ^@ NM_000501.3(ELN):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/213169 ^@ NM_000501.3(ELN):c.133+16C>A http://identifiers.org/clinvar/213171 ^@ NM_000501.3(ELN):c.326G>A (p.Gly109Asp) http://identifiers.org/clinvar/213186 ^@ NM_000501.3(ELN):c.477delG (p.Phe160Serfs) http://identifiers.org/clinvar/213190 ^@ NM_000501.3(ELN):c.571+7C>T http://identifiers.org/clinvar/213195 ^@ NM_000501.3(ELN):c.590delG (p.Gly197Aspfs) http://identifiers.org/clinvar/213174 ^@ NM_000501.3(ELN):c.618T>A (p.Tyr206Ter) http://identifiers.org/clinvar/213192 ^@ NM_000501.3(ELN):c.647G>T (p.Gly216Val) http://identifiers.org/clinvar/213175 ^@ NM_000501.3(ELN):c.659C>T (p.Pro220Leu) http://identifiers.org/clinvar/213196 ^@ NM_000501.3(ELN):c.728_729delGT (p.Gly243Valfs) http://identifiers.org/clinvar/213197 ^@ NM_000501.3(ELN):c.848dupC (p.Gly284Trpfs) http://identifiers.org/clinvar/213187 ^@ NM_000501.3(ELN):c.1101delT (p.Val368Cysfs) http://identifiers.org/clinvar/213188 ^@ NM_000501.3(ELN):c.1161delC (p.Gly388Glufs) http://identifiers.org/clinvar/213189 ^@ NM_000501.3(ELN):c.1195delG (p.Val399Leufs) http://identifiers.org/clinvar/213163 ^@ NM_000501.3(ELN):c.1315+17C>T http://identifiers.org/clinvar/213164 ^@ NM_000501.3(ELN):c.1566T>A (p.Gly522=) http://identifiers.org/clinvar/213198 ^@ NM_000501.3(ELN):c.1591_1592delGCinsTT (p.Ala531Phe) http://identifiers.org/clinvar/213165 ^@ NM_000501.3(ELN):c.1622-13C>T http://identifiers.org/clinvar/213181 ^@ NM_000501.3(ELN):c.1859-1G>A http://identifiers.org/clinvar/213191 ^@ NM_000501.3(ELN):c.1928_1952del25 (p.Gly643Glufs) http://identifiers.org/clinvar/213166 ^@ NM_000501.3(ELN):c.1999C>T (p.Pro667Ser) http://identifiers.org/clinvar/213183 ^@ NM_000501.3(ELN):c.2032G>A (p.Gly678Ser) http://identifiers.org/clinvar/213167 ^@ NM_000501.3(ELN):c.2086+5G>C http://identifiers.org/clinvar/213184 ^@ NM_000501.3(ELN):c.2132-7C>A http://identifiers.org/clinvar/213203 ^@ NM_000118.3(ENG):c.1794T>C (p.Gly598=) http://identifiers.org/clinvar/213213 ^@ NM_000118.3(ENG):c.1715T>A (p.Leu572Ter) http://identifiers.org/clinvar/213212 ^@ NM_000118.3(ENG):c.1586G>A (p.Arg529His) http://identifiers.org/clinvar/213215 ^@ NM_000118.3(ENG):c.1550_1551delTG (p.Val517Glufs) http://identifiers.org/clinvar/213217 ^@ NM_000118.3(ENG):c.1428+2T>C http://identifiers.org/clinvar/213216 ^@ NM_000118.3(ENG):c.1428+1G>A http://identifiers.org/clinvar/213202 ^@ NM_000118.3(ENG):c.1374A>G (p.Pro458=) http://identifiers.org/clinvar/213210 ^@ NM_000118.3(ENG):c.1312A>T (p.Lys438Ter) http://identifiers.org/clinvar/213209 ^@ NM_000118.3(ENG):c.1272+1G>A http://identifiers.org/clinvar/213214 ^@ NM_000118.3(ENG):c.1080_1083delGACA (p.Thr361Serfs) http://identifiers.org/clinvar/213201 ^@ NM_000118.3(ENG):c.991+26_991+27insCCTCCC http://identifiers.org/clinvar/213208 ^@ NM_000118.3(ENG):c.689+2T>C http://identifiers.org/clinvar/213200 ^@ NM_000118.3(ENG):c.572G>A (p.Gly191Asp) http://identifiers.org/clinvar/213211 ^@ NM_000118.3(ENG):c.562C>T (p.Gln188Ter) http://identifiers.org/clinvar/213207 ^@ NM_000118.3(ENG):c.446G>A (p.Trp149Ter) http://identifiers.org/clinvar/213199 ^@ NM_000118.3(ENG):c.444G>T (p.Glu148Asp) http://identifiers.org/clinvar/213205 ^@ NM_000118.3(ENG):c.247C>T (p.Gln83Ter) http://identifiers.org/clinvar/213204 ^@ NM_000118.3(ENG):c.98A>C (p.Gln33Pro) http://identifiers.org/clinvar/212930 ^@ NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) http://identifiers.org/clinvar/213026 ^@ NM_000093.4(COL5A1):c.65C>A (p.Pro22Gln) http://identifiers.org/clinvar/213027 ^@ NM_000093.4(COL5A1):c.65C>G (p.Pro22Arg) http://identifiers.org/clinvar/212914 ^@ NM_000093.4(COL5A1):c.110-19T>C http://identifiers.org/clinvar/212915 ^@ NM_000093.4(COL5A1):c.126C>T (p.Leu42=) http://identifiers.org/clinvar/213003 ^@ NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) http://identifiers.org/clinvar/213004 ^@ NM_000093.4(COL5A1):c.149A>G (p.Asn50Ser) http://identifiers.org/clinvar/213068 ^@ NM_000093.4(COL5A1):c.157G>C (p.Asp53His) http://identifiers.org/clinvar/213005 ^@ NM_000093.4(COL5A1):c.191C>T (p.Thr64Met) http://identifiers.org/clinvar/213006 ^@ NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) http://identifiers.org/clinvar/213007 ^@ NM_000093.4(COL5A1):c.194G>A (p.Arg65Gln) http://identifiers.org/clinvar/212916 ^@ NM_000093.4(COL5A1):c.278C>T (p.Ala93Val) http://identifiers.org/clinvar/212917 ^@ NM_000093.4(COL5A1):c.279G>A (p.Ala93=) http://identifiers.org/clinvar/213008 ^@ NM_000093.4(COL5A1):c.292G>A (p.Glu98Lys) http://identifiers.org/clinvar/213009 ^@ NM_000093.4(COL5A1):c.298T>G (p.Phe100Val) http://identifiers.org/clinvar/213036 ^@ NM_000093.4(COL5A1):c.312_314delAAC (p.Thr105del) http://identifiers.org/clinvar/213010 ^@ NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) http://identifiers.org/clinvar/213011 ^@ NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) http://identifiers.org/clinvar/213012 ^@ NM_000093.4(COL5A1):c.383T>C (p.Ile128Thr) http://identifiers.org/clinvar/213013 ^@ NM_000093.4(COL5A1):c.427C>A (p.His143Asn) http://identifiers.org/clinvar/212918 ^@ NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) http://identifiers.org/clinvar/213069 ^@ NM_000093.4(COL5A1):c.458C>T (p.Pro153Leu) http://identifiers.org/clinvar/212919 ^@ NM_000093.4(COL5A1):c.514G>A (p.Val172Ile) http://identifiers.org/clinvar/213070 ^@ NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) http://identifiers.org/clinvar/213015 ^@ NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) http://identifiers.org/clinvar/213016 ^@ NM_000093.4(COL5A1):c.727G>A (p.Asp243Asn) http://identifiers.org/clinvar/213017 ^@ NM_000093.4(COL5A1):c.754C>T (p.Pro252Ser) http://identifiers.org/clinvar/212920 ^@ NM_000093.4(COL5A1):c.790A>C (p.Thr264Pro) http://identifiers.org/clinvar/212921 ^@ NM_000093.4(COL5A1):c.804C>T (p.Gly268=) http://identifiers.org/clinvar/212922 ^@ NM_000093.4(COL5A1):c.924+13C>T http://identifiers.org/clinvar/212923 ^@ NM_000093.4(COL5A1):c.934C>G (p.Pro312Ala) http://identifiers.org/clinvar/213018 ^@ NM_000093.4(COL5A1):c.944C>T (p.Thr315Met) http://identifiers.org/clinvar/212924 ^@ NM_000093.4(COL5A1):c.996C>T (p.Asp332=) http://identifiers.org/clinvar/212925 ^@ NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) http://identifiers.org/clinvar/213019 ^@ NM_000093.4(COL5A1):c.1147A>G (p.Thr383Ala) http://identifiers.org/clinvar/212926 ^@ NM_000093.4(COL5A1):c.1158C>T (p.Ser386=) http://identifiers.org/clinvar/213020 ^@ NM_000093.4(COL5A1):c.1189G>A (p.Ala397Thr) http://identifiers.org/clinvar/212927 ^@ NM_000093.4(COL5A1):c.1281G>A (p.Pro427=) http://identifiers.org/clinvar/213071 ^@ NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) http://identifiers.org/clinvar/212928 ^@ NM_000093.4(COL5A1):c.1293G>T (p.Gly431=) http://identifiers.org/clinvar/213021 ^@ NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) http://identifiers.org/clinvar/213023 ^@ NM_000093.4(COL5A1):c.1345C>T (p.Arg449Trp) http://identifiers.org/clinvar/212929 ^@ NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) http://identifiers.org/clinvar/213024 ^@ NM_000093.4(COL5A1):c.1351G>A (p.Glu451Lys) http://identifiers.org/clinvar/213025 ^@ NM_000093.4(COL5A1):c.1388C>T (p.Pro463Leu) http://identifiers.org/clinvar/212931 ^@ NM_000093.4(COL5A1):c.1390-12_1390-11delCT http://identifiers.org/clinvar/213028 ^@ NM_000093.4(COL5A1):c.1465A>G (p.Thr489Ala) http://identifiers.org/clinvar/212932 ^@ NM_000093.4(COL5A1):c.1507C>T (p.Arg503Cys) http://identifiers.org/clinvar/212933 ^@ NM_000093.4(COL5A1):c.1528G>A (p.Asp510Asn) http://identifiers.org/clinvar/212934 ^@ NM_000093.4(COL5A1):c.1535T>C (p.Leu512Pro) http://identifiers.org/clinvar/212935 ^@ NM_000093.4(COL5A1):c.1561A>G (p.Met521Val) http://identifiers.org/clinvar/213037 ^@ NM_000093.4(COL5A1):c.1574G>A (p.Arg525Gln) http://identifiers.org/clinvar/212884 ^@ NM_000093.4(COL5A1):c.1590C>T (p.Gly530=) http://identifiers.org/clinvar/212936 ^@ NM_000093.4(COL5A1):c.1595C>T (p.Ala532Val) http://identifiers.org/clinvar/212937 ^@ NM_000093.4(COL5A1):c.1637C>T (p.Ala546Val) http://identifiers.org/clinvar/212939 ^@ NM_000093.4(COL5A1):c.1688C>T (p.Pro563Leu) http://identifiers.org/clinvar/212940 ^@ NM_000093.4(COL5A1):c.1720-11T>A http://identifiers.org/clinvar/212941 ^@ NM_000093.4(COL5A1):c.1726C>T (p.Pro576Ser) http://identifiers.org/clinvar/212942 ^@ NM_000093.4(COL5A1):c.1805C>T (p.Pro602Leu) http://identifiers.org/clinvar/212943 ^@ NM_000093.4(COL5A1):c.1831C>T (p.Arg611Trp) http://identifiers.org/clinvar/213038 ^@ NM_000093.4(COL5A1):c.1840A>C (p.Ser614Arg) http://identifiers.org/clinvar/212944 ^@ NM_000093.4(COL5A1):c.1888C>T (p.Arg630Trp) http://identifiers.org/clinvar/212885 ^@ NM_000093.4(COL5A1):c.1935+12C>T http://identifiers.org/clinvar/212886 ^@ NM_000093.4(COL5A1):c.1953C>T (p.Ser651=) http://identifiers.org/clinvar/213039 ^@ NM_000093.4(COL5A1):c.1970C>T (p.Pro657Leu) http://identifiers.org/clinvar/212887 ^@ NM_000093.4(COL5A1):c.1977C>T (p.Asp659=) http://identifiers.org/clinvar/212888 ^@ NM_000093.4(COL5A1):c.1998C>T (p.Asp666=) http://identifiers.org/clinvar/212889 ^@ NM_000093.4(COL5A1):c.2031G>A (p.Glu677=) http://identifiers.org/clinvar/212945 ^@ NM_000093.4(COL5A1):c.2032C>T (p.Pro678Ser) http://identifiers.org/clinvar/212946 ^@ NM_000093.4(COL5A1):c.2038C>T (p.Pro680Ser) http://identifiers.org/clinvar/212890 ^@ NM_000093.4(COL5A1):c.2058G>A (p.Pro686=) http://identifiers.org/clinvar/213040 ^@ NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) http://identifiers.org/clinvar/212947 ^@ NM_000093.4(COL5A1):c.2114C>T (p.Pro705Leu) http://identifiers.org/clinvar/212891 ^@ NM_000093.4(COL5A1):c.2134-11G>C http://identifiers.org/clinvar/213029 ^@ NM_000093.4(COL5A1):c.2159dupC (p.Gly721Argfs) http://identifiers.org/clinvar/213030 ^@ NM_000093.4(COL5A1):c.2162dupG (p.Gln722Thrfs) http://identifiers.org/clinvar/212892 ^@ NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) http://identifiers.org/clinvar/213041 ^@ NM_000093.4(COL5A1):c.2281C>T (p.Pro761Ser) http://identifiers.org/clinvar/212948 ^@ NM_000093.4(COL5A1):c.2285C>T (p.Pro762Leu) http://identifiers.org/clinvar/212893 ^@ NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) http://identifiers.org/clinvar/213031 ^@ NM_000093.4(COL5A1):c.2347_2348insT (p.Gln783Leufs) http://identifiers.org/clinvar/212949 ^@ NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) http://identifiers.org/clinvar/212894 ^@ NM_000093.4(COL5A1):c.2386-7C>T http://identifiers.org/clinvar/212895 ^@ NM_000093.4(COL5A1):c.2398A>G (p.Ile800Val) http://identifiers.org/clinvar/213042 ^@ NM_000093.4(COL5A1):c.2483G>A (p.Arg828Gln) http://identifiers.org/clinvar/212896 ^@ NM_000093.4(COL5A1):c.2485-11C>T http://identifiers.org/clinvar/213043 ^@ NM_000093.4(COL5A1):c.2555A>T (p.Asn852Ile) http://identifiers.org/clinvar/212950 ^@ NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) http://identifiers.org/clinvar/213044 ^@ NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) http://identifiers.org/clinvar/213045 ^@ NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) http://identifiers.org/clinvar/212951 ^@ NM_000093.4(COL5A1):c.2750C>T (p.Pro917Leu) http://identifiers.org/clinvar/213032 ^@ NM_000093.4(COL5A1):c.2784delG (p.Lys929Serfs) http://identifiers.org/clinvar/212897 ^@ NM_000093.4(COL5A1):c.2844+20G>A http://identifiers.org/clinvar/213046 ^@ NM_000093.4(COL5A1):c.2894C>T (p.Pro965Leu) http://identifiers.org/clinvar/212952 ^@ NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) http://identifiers.org/clinvar/212953 ^@ NM_000093.4(COL5A1):c.2989G>A (p.Gly997Ser) http://identifiers.org/clinvar/212954 ^@ NM_000093.4(COL5A1):c.3013A>G (p.Thr1005Ala) http://identifiers.org/clinvar/213047 ^@ NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) http://identifiers.org/clinvar/213033 ^@ NM_000093.4(COL5A1):c.3069dupC (p.Gly1024Argfs) http://identifiers.org/clinvar/212955 ^@ NM_000093.4(COL5A1):c.3110C>T (p.Thr1037Met) http://identifiers.org/clinvar/212956 ^@ NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) http://identifiers.org/clinvar/212957 ^@ NM_000093.4(COL5A1):c.3236C>T (p.Pro1079Leu) http://identifiers.org/clinvar/212958 ^@ NM_000093.4(COL5A1):c.3247C>T (p.Pro1083Ser) http://identifiers.org/clinvar/212959 ^@ NM_000093.4(COL5A1):c.3258G>A (p.Ala1086=) http://identifiers.org/clinvar/212898 ^@ NM_000093.4(COL5A1):c.3291C>T (p.Ala1097=) http://identifiers.org/clinvar/212899 ^@ NM_000093.4(COL5A1):c.3345G>A (p.Pro1115=) http://identifiers.org/clinvar/212962 ^@ NM_000093.4(COL5A1):c.3350G>C (p.Gly1117Ala) http://identifiers.org/clinvar/212963 ^@ NM_000093.4(COL5A1):c.3361G>C (p.Ala1121Pro) http://identifiers.org/clinvar/212900 ^@ NM_000093.4(COL5A1):c.3366+11C>T http://identifiers.org/clinvar/213048 ^@ NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) http://identifiers.org/clinvar/212964 ^@ NM_000093.4(COL5A1):c.3622C>T (p.Leu1208Phe) http://identifiers.org/clinvar/212901 ^@ NM_000093.4(COL5A1):c.3691-9T>C http://identifiers.org/clinvar/212965 ^@ NM_000093.4(COL5A1):c.3770G>A (p.Arg1257Gln) http://identifiers.org/clinvar/213049 ^@ NM_000093.4(COL5A1):c.3788C>T (p.Pro1263Leu) http://identifiers.org/clinvar/212966 ^@ NM_000093.4(COL5A1):c.3815C>A (p.Pro1272Gln) http://identifiers.org/clinvar/213050 ^@ NM_000093.4(COL5A1):c.3815C>T (p.Pro1272Leu) http://identifiers.org/clinvar/212967 ^@ NM_000093.4(COL5A1):c.3868G>A (p.Ala1290Thr) http://identifiers.org/clinvar/212902 ^@ NM_000093.4(COL5A1):c.3905C>T (p.Pro1302Leu) http://identifiers.org/clinvar/212903 ^@ NM_000093.4(COL5A1):c.3906+14C>T http://identifiers.org/clinvar/212904 ^@ NM_000093.4(COL5A1):c.3906+19C>T http://identifiers.org/clinvar/212968 ^@ NM_000093.4(COL5A1):c.3936C>T (p.Gly1312=) http://identifiers.org/clinvar/212969 ^@ NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) http://identifiers.org/clinvar/212970 ^@ NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) http://identifiers.org/clinvar/213051 ^@ NM_000093.4(COL5A1):c.4067C>T (p.Ala1356Val) http://identifiers.org/clinvar/212971 ^@ NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) http://identifiers.org/clinvar/212905 ^@ NM_000093.4(COL5A1):c.4139C>A (p.Thr1380Asn) http://identifiers.org/clinvar/212972 ^@ NM_000093.4(COL5A1):c.4162C>T (p.Pro1388Ser) http://identifiers.org/clinvar/213052 ^@ NM_000093.4(COL5A1):c.4175G>A (p.Arg1392Lys) http://identifiers.org/clinvar/212973 ^@ NM_000093.4(COL5A1):c.4230G>C (p.Lys1410Asn) http://identifiers.org/clinvar/212974 ^@ NM_000093.4(COL5A1):c.4240G>A (p.Gly1414Ser) http://identifiers.org/clinvar/212975 ^@ NM_000093.4(COL5A1):c.4282C>T (p.Gln1428Ter) http://identifiers.org/clinvar/213034 ^@ NM_000093.4(COL5A1):c.4283delA (p.Gln1428Argfs) http://identifiers.org/clinvar/212976 ^@ NM_000093.4(COL5A1):c.4288G>A (p.Ala1430Thr) http://identifiers.org/clinvar/212977 ^@ NM_000093.4(COL5A1):c.4307C>T (p.Pro1436Leu) http://identifiers.org/clinvar/212906 ^@ NM_000093.4(COL5A1):c.4308G>A (p.Pro1436=) http://identifiers.org/clinvar/212907 ^@ NM_000093.4(COL5A1):c.4374C>T (p.Asp1458=) http://identifiers.org/clinvar/212978 ^@ NM_000093.4(COL5A1):c.4392+4A>C http://identifiers.org/clinvar/212908 ^@ NM_000093.4(COL5A1):c.4393-19C>T http://identifiers.org/clinvar/212980 ^@ NM_000093.4(COL5A1):c.4471A>T (p.Ile1491Phe) http://identifiers.org/clinvar/212981 ^@ NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) http://identifiers.org/clinvar/213053 ^@ NM_000093.4(COL5A1):c.4481C>T (p.Pro1494Leu) http://identifiers.org/clinvar/213054 ^@ NM_000093.4(COL5A1):c.4522C>A (p.Pro1508Thr) http://identifiers.org/clinvar/212982 ^@ NM_000093.4(COL5A1):c.4554+5G>A http://identifiers.org/clinvar/213072 ^@ NM_000093.4(COL5A1):c.4561_4569delACTGGTCCT (p.Thr1521_Pro1523del) http://identifiers.org/clinvar/212983 ^@ NM_000093.4(COL5A1):c.4577C>T (p.Pro1526Leu) http://identifiers.org/clinvar/213055 ^@ NM_000093.4(COL5A1):c.4613C>T (p.Pro1538Leu) http://identifiers.org/clinvar/212984 ^@ NM_000093.4(COL5A1):c.4643C>T (p.Ser1548Leu) http://identifiers.org/clinvar/212985 ^@ NM_000093.4(COL5A1):c.4652C>T (p.Thr1551Ile) http://identifiers.org/clinvar/212986 ^@ NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) http://identifiers.org/clinvar/212987 ^@ NM_000093.4(COL5A1):c.4697C>T (p.Pro1566Leu) http://identifiers.org/clinvar/212988 ^@ NM_000093.4(COL5A1):c.4753C>T (p.Arg1585Trp) http://identifiers.org/clinvar/212989 ^@ NM_000093.4(COL5A1):c.4754G>A (p.Arg1585Gln) http://identifiers.org/clinvar/213056 ^@ NM_000093.4(COL5A1):c.4762G>A (p.Asp1588Asn) http://identifiers.org/clinvar/212990 ^@ NM_000093.4(COL5A1):c.4765G>A (p.Ala1589Thr) http://identifiers.org/clinvar/212991 ^@ NM_000093.4(COL5A1):c.4783G>A (p.Asp1595Asn) http://identifiers.org/clinvar/212909 ^@ NM_000093.4(COL5A1):c.4788G>C (p.Gly1596=) http://identifiers.org/clinvar/213057 ^@ NM_000093.4(COL5A1):c.4794C>T (p.Gly1598=) http://identifiers.org/clinvar/213058 ^@ NM_000093.4(COL5A1):c.4804G>A (p.Val1602Met) http://identifiers.org/clinvar/212992 ^@ NM_000093.4(COL5A1):c.4814C>T (p.Ala1605Val) http://identifiers.org/clinvar/213059 ^@ NM_000093.4(COL5A1):c.4831A>C (p.Ile1611Leu) http://identifiers.org/clinvar/212993 ^@ NM_000093.4(COL5A1):c.4848C>G (p.Asn1616Lys) http://identifiers.org/clinvar/212994 ^@ NM_000093.4(COL5A1):c.4879C>T (p.Arg1627Trp) http://identifiers.org/clinvar/213060 ^@ NM_000093.4(COL5A1):c.4892C>G (p.Thr1631Arg) http://identifiers.org/clinvar/213061 ^@ NM_000093.4(COL5A1):c.4892C>T (p.Thr1631Met) http://identifiers.org/clinvar/213062 ^@ NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) http://identifiers.org/clinvar/212995 ^@ NM_000093.4(COL5A1):c.4934G>A (p.Cys1645Tyr) http://identifiers.org/clinvar/212996 ^@ NM_000093.4(COL5A1):c.5026G>C (p.Gly1676Arg) http://identifiers.org/clinvar/213063 ^@ NM_000093.4(COL5A1):c.5028G>T (p.Gly1676=) http://identifiers.org/clinvar/213064 ^@ NM_000093.4(COL5A1):c.5060C>A (p.Ser1687Tyr) http://identifiers.org/clinvar/212997 ^@ NM_000093.4(COL5A1):c.5097C>G (p.Asn1699Lys) http://identifiers.org/clinvar/212910 ^@ NM_000093.4(COL5A1):c.5154C>T (p.Ala1718=) http://identifiers.org/clinvar/212998 ^@ NM_000093.4(COL5A1):c.5182A>G (p.Met1728Val) http://identifiers.org/clinvar/212911 ^@ NM_000093.4(COL5A1):c.5266G>A (p.Ala1756Thr) http://identifiers.org/clinvar/212999 ^@ NM_000093.4(COL5A1):c.5329G>A (p.Asp1777Asn) http://identifiers.org/clinvar/213065 ^@ NM_000093.4(COL5A1):c.5335A>G (p.Asn1779Asp) http://identifiers.org/clinvar/213000 ^@ NM_000093.4(COL5A1):c.5338C>T (p.Pro1780Ser) http://identifiers.org/clinvar/213035 ^@ NM_000093.4(COL5A1):c.5357dupT (p.Asp1787Glyfs) http://identifiers.org/clinvar/212912 ^@ NM_000093.4(COL5A1):c.5370+11C>T http://identifiers.org/clinvar/212913 ^@ NM_000093.4(COL5A1):c.5371-15C>T http://identifiers.org/clinvar/213001 ^@ NM_000093.4(COL5A1):c.5395G>A (p.Val1799Ile) http://identifiers.org/clinvar/213066 ^@ NM_000093.4(COL5A1):c.5453A>G (p.Asn1818Ser) http://identifiers.org/clinvar/213002 ^@ NM_000093.4(COL5A1):c.5468C>T (p.Ala1823Val) http://identifiers.org/clinvar/213067 ^@ NM_000093.4(COL5A1):c.5486T>G (p.Phe1829Cys) http://identifiers.org/clinvar/213859 ^@ NM_004612.3(TGFBR1):c.-50_-49delGC http://identifiers.org/clinvar/213860 ^@ NM_004612.3(TGFBR1):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/213861 ^@ NM_004612.3(TGFBR1):c.23C>T (p.Pro8Leu) http://identifiers.org/clinvar/213862 ^@ NM_004612.3(TGFBR1):c.50_58delTGGCGGCGG (p.Leu17_Ala20delinsPro) http://identifiers.org/clinvar/213863 ^@ NM_004612.3(TGFBR1):c.76_78delGCG (p.Ala26del) http://identifiers.org/clinvar/213864 ^@ NM_004612.3(TGFBR1):c.76_78dupGCG (p.Ala26_Leu27insAla) http://identifiers.org/clinvar/213853 ^@ NM_004612.3(TGFBR1):c.192A>G (p.Lys64=) http://identifiers.org/clinvar/213865 ^@ NM_004612.3(TGFBR1):c.207C>T (p.Ser69=) http://identifiers.org/clinvar/213854 ^@ NM_004612.3(TGFBR1):c.343+3A>G http://identifiers.org/clinvar/213866 ^@ NM_004612.3(TGFBR1):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/213898 ^@ NM_004612.3(TGFBR1):c.428T>A (p.Leu143Ter) http://identifiers.org/clinvar/213867 ^@ NM_004612.3(TGFBR1):c.434T>G (p.Val145Gly) http://identifiers.org/clinvar/213868 ^@ NM_004612.3(TGFBR1):c.457G>A (p.Val153Ile) http://identifiers.org/clinvar/213855 ^@ NM_004612.3(TGFBR1):c.575-9dupT http://identifiers.org/clinvar/213870 ^@ NM_004612.3(TGFBR1):c.586C>T (p.Leu196Phe) http://identifiers.org/clinvar/213899 ^@ NM_004612.3(TGFBR1):c.613A>G (p.Ile205Val) http://identifiers.org/clinvar/213872 ^@ NM_004612.3(TGFBR1):c.648T>G (p.Phe216Leu) http://identifiers.org/clinvar/213873 ^@ NM_004612.3(TGFBR1):c.655G>T (p.Val219Phe) http://identifiers.org/clinvar/213896 ^@ NM_004612.3(TGFBR1):c.683_685delAAG (p.Glu228del) http://identifiers.org/clinvar/213874 ^@ NM_004612.3(TGFBR1):c.696G>C (p.Lys232Asn) http://identifiers.org/clinvar/213875 ^@ NM_004612.3(TGFBR1):c.707C>T (p.Ser236Phe) http://identifiers.org/clinvar/213876 ^@ NM_004612.3(TGFBR1):c.709A>G (p.Arg237Gly) http://identifiers.org/clinvar/213877 ^@ NM_004612.3(TGFBR1):c.724T>C (p.Trp242Arg) http://identifiers.org/clinvar/213878 ^@ NM_004612.3(TGFBR1):c.758T>C (p.Met253Thr) http://identifiers.org/clinvar/213884 ^@ NM_004612.3(TGFBR1):c.797A>G (p.Asp266Gly) http://identifiers.org/clinvar/213879 ^@ NM_004612.3(TGFBR1):c.820A>G (p.Thr274Ala) http://identifiers.org/clinvar/213880 ^@ NM_004612.3(TGFBR1):c.824A>G (p.Gln275Arg) http://identifiers.org/clinvar/213881 ^@ NM_004612.3(TGFBR1):c.844T>C (p.Tyr282His) http://identifiers.org/clinvar/213900 ^@ NM_004612.3(TGFBR1):c.860C>T (p.Ser287Phe) http://identifiers.org/clinvar/213882 ^@ NM_004612.3(TGFBR1):c.934G>A (p.Gly312Ser) http://identifiers.org/clinvar/213901 ^@ NM_004612.3(TGFBR1):c.965G>A (p.Gly322Asp) http://identifiers.org/clinvar/213883 ^@ NM_004612.3(TGFBR1):c.973+1G>A http://identifiers.org/clinvar/213902 ^@ NM_004612.3(TGFBR1):c.977A>G (p.Lys326Arg) http://identifiers.org/clinvar/213885 ^@ NM_004612.3(TGFBR1):c.978G>C (p.Lys326Asn) http://identifiers.org/clinvar/213886 ^@ NM_004612.3(TGFBR1):c.1013A>C (p.Asn338Thr) http://identifiers.org/clinvar/213887 ^@ NM_004612.3(TGFBR1):c.1052A>C (p.Asp351Ala) http://identifiers.org/clinvar/213888 ^@ NM_004612.3(TGFBR1):c.1093A>G (p.Ile365Val) http://identifiers.org/clinvar/213903 ^@ NM_004612.3(TGFBR1):c.1110C>G (p.Asn370Lys) http://identifiers.org/clinvar/213889 ^@ NM_004612.3(TGFBR1):c.1144G>A (p.Glu382Lys) http://identifiers.org/clinvar/213892 ^@ NM_004612.3(TGFBR1):c.1255G>A (p.Gly419Arg) http://identifiers.org/clinvar/213856 ^@ NM_004612.3(TGFBR1):c.1256-13T>A http://identifiers.org/clinvar/213904 ^@ NM_004612.3(TGFBR1):c.1306C>G (p.Pro436Ala) http://identifiers.org/clinvar/213857 ^@ NM_004612.3(TGFBR1):c.1387-15delT http://identifiers.org/clinvar/213858 ^@ NM_004612.3(TGFBR1):c.1387-14dupA http://identifiers.org/clinvar/213893 ^@ NM_004612.3(TGFBR1):c.1420T>C (p.Cys474Arg) http://identifiers.org/clinvar/213895 ^@ NM_004612.3(TGFBR1):c.1487G>A (p.Ser496Asn) http://identifiers.org/clinvar/213821 ^@ NM_000192.3(TBX5):c.1126C>T (p.Gln376Ter) http://identifiers.org/clinvar/213832 ^@ NM_000192.3(TBX5):c.835C>T (p.Arg279Ter) http://identifiers.org/clinvar/213819 ^@ NM_000192.3(TBX5):c.755G>A (p.Ser252Asn) http://identifiers.org/clinvar/213830 ^@ NM_000192.3(TBX5):c.611dupA (p.His204Glnfs) http://identifiers.org/clinvar/213829 ^@ NM_000192.3(TBX5):c.468_484del17 (p.Lys157Glnfs) http://identifiers.org/clinvar/213828 ^@ NM_000192.3(TBX5):c.421_443del23insCCAGGA (p.Ser141Profs) http://identifiers.org/clinvar/213827 ^@ NM_000192.3(TBX5):c.420_432delCTCCCCCGCCACC (p.Asp140Glufs) http://identifiers.org/clinvar/213826 ^@ NM_000192.3(TBX5):c.376_402del27 (p.Lys126_Arg134del) http://identifiers.org/clinvar/213816 ^@ NM_000192.3(TBX5):c.373G>C (p.Gly125Arg) http://identifiers.org/clinvar/213813 ^@ NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) http://identifiers.org/clinvar/213825 ^@ NM_000192.3(TBX5):c.316A>G (p.Ile106Val) http://identifiers.org/clinvar/213815 ^@ NM_000192.3(TBX5):c.309C>T (p.Leu103=) http://identifiers.org/clinvar/213820 ^@ NM_000192.3(TBX5):c.142C>T (p.Gln48Ter) http://identifiers.org/clinvar/212792 ^@ NM_000020.2(ACVRL1):c.-46C>G http://identifiers.org/clinvar/212805 ^@ NM_000020.2(ACVRL1):c.145dupG (p.Ala49Glyfs) http://identifiers.org/clinvar/212797 ^@ NM_000020.2(ACVRL1):c.152G>A (p.Cys51Tyr) http://identifiers.org/clinvar/212803 ^@ NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) http://identifiers.org/clinvar/212798 ^@ NM_000020.2(ACVRL1):c.269G>A (p.Cys90Tyr) http://identifiers.org/clinvar/212791 ^@ NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) http://identifiers.org/clinvar/212806 ^@ NM_000020.2(ACVRL1):c.406_409delGGTG (p.Gly136Serfs) http://identifiers.org/clinvar/212799 ^@ NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile) http://identifiers.org/clinvar/212793 ^@ NM_000020.2(ACVRL1):c.747G>A (p.Val249=) http://identifiers.org/clinvar/212800 ^@ NM_000020.2(ACVRL1):c.920C>A (p.Ala307Glu) http://identifiers.org/clinvar/212801 ^@ NM_000020.2(ACVRL1):c.986G>A (p.Arg329His) http://identifiers.org/clinvar/212802 ^@ NM_000020.2(ACVRL1):c.998G>T (p.Ser333Ile) http://identifiers.org/clinvar/212807 ^@ NM_000020.2(ACVRL1):c.1031_1032dupGT (p.Cys345Valfs) http://identifiers.org/clinvar/212808 ^@ NM_000020.2(ACVRL1):c.1122delG (p.Tyr375Thrfs) http://identifiers.org/clinvar/212794 ^@ NM_000020.2(ACVRL1):c.1377+1G>A http://identifiers.org/clinvar/212796 ^@ NM_000020.2(ACVRL1):c.1451G>A (p.Arg484Gln) http://identifiers.org/clinvar/213814 ^@ NM_001127217.2(SMAD9):c.1243C>T (p.Arg415Trp) http://identifiers.org/clinvar/213812 ^@ NM_001127217.2(SMAD9):c.788G>A (p.Arg263Gln) http://identifiers.org/clinvar/213810 ^@ NM_001127217.2(SMAD9):c.487G>A (p.Ala163Thr) http://identifiers.org/clinvar/213811 ^@ NM_001127217.2(SMAD9):c.65T>C (p.Leu22Pro) http://identifiers.org/clinvar/213809 ^@ NM_001127217.2(SMAD9):c.-37C>T http://identifiers.org/clinvar/213778 ^@ NM_005902.3(SMAD3):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/213757 ^@ NM_005902.3(SMAD3):c.66G>A (p.Glu22=) http://identifiers.org/clinvar/213779 ^@ NM_005902.3(SMAD3):c.82G>T (p.Glu28Ter) http://identifiers.org/clinvar/213806 ^@ NM_005902.3(SMAD3):c.110_115delGCCTGG (p.Ser37_Val39delinsIle) http://identifiers.org/clinvar/213788 ^@ NM_005902.3(SMAD3):c.110_121delGCCTGGTCAAGA (p.Ser37_Lys40del) http://identifiers.org/clinvar/213780 ^@ NM_005902.3(SMAD3):c.148G>A (p.Glu50Lys) http://identifiers.org/clinvar/213797 ^@ NM_005902.3(SMAD3):c.154G>T (p.Glu52Ter) http://identifiers.org/clinvar/213755 ^@ NM_005902.3(SMAD3):c.207-38931G>A http://identifiers.org/clinvar/213756 ^@ NM_005902.3(SMAD3):c.207-26779C>T http://identifiers.org/clinvar/213799 ^@ NM_005902.3(SMAD3):c.260T>C (p.Ile87Thr) http://identifiers.org/clinvar/213807 ^@ NM_005902.3(SMAD3):c.263dupA (p.Tyr88Terfs) http://identifiers.org/clinvar/213789 ^@ NM_005902.3(SMAD3):c.275_281delGGCGATGinsC (p.Trp92_Trp94delinsSer) http://identifiers.org/clinvar/213781 ^@ NM_005902.3(SMAD3):c.277C>T (p.Arg93Ter) http://identifiers.org/clinvar/213800 ^@ NM_005902.3(SMAD3):c.278G>A (p.Arg93Gln) http://identifiers.org/clinvar/213801 ^@ NM_005902.3(SMAD3):c.316A>G (p.Met106Val) http://identifiers.org/clinvar/213802 ^@ NM_005902.3(SMAD3):c.377A>G (p.His126Arg) http://identifiers.org/clinvar/213790 ^@ NM_005902.3(SMAD3):c.387_388delAG (p.Arg129Serfs) http://identifiers.org/clinvar/213803 ^@ NM_005902.3(SMAD3):c.394A>G (p.Thr132Ala) http://identifiers.org/clinvar/213804 ^@ NM_005902.3(SMAD3):c.401T>C (p.Val134Ala) http://identifiers.org/clinvar/213783 ^@ NM_005902.3(SMAD3):c.455C>A (p.Pro152Gln) http://identifiers.org/clinvar/213792 ^@ NM_005902.3(SMAD3):c.455delC (p.Pro152Hisfs) http://identifiers.org/clinvar/213758 ^@ NM_005902.3(SMAD3):c.457C>T (p.Leu153=) http://identifiers.org/clinvar/213808 ^@ NM_005902.3(SMAD3):c.483delC (p.Glu162Lysfs) http://identifiers.org/clinvar/213753 ^@ NM_005902.3(SMAD3):c.533-589G>A http://identifiers.org/clinvar/213754 ^@ NM_005902.3(SMAD3):c.533-585G>T http://identifiers.org/clinvar/213759 ^@ NM_005902.3(SMAD3):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/213760 ^@ NM_005902.3(SMAD3):c.696G>C (p.Trp232Cys) http://identifiers.org/clinvar/213785 ^@ NM_005902.3(SMAD3):c.712_714delTAC (p.Tyr238del) http://identifiers.org/clinvar/213761 ^@ NM_005902.3(SMAD3):c.728G>A (p.Arg243His) http://identifiers.org/clinvar/213762 ^@ NM_005902.3(SMAD3):c.733G>A (p.Gly245Arg) http://identifiers.org/clinvar/213763 ^@ NM_005902.3(SMAD3):c.772G>C (p.Asp258His) http://identifiers.org/clinvar/213786 ^@ NM_005902.3(SMAD3):c.786_800delCCCCTCCAATTCGGA (p.Asp262_Ser266del) http://identifiers.org/clinvar/213765 ^@ NM_005902.3(SMAD3):c.788C>G (p.Pro263Arg) http://identifiers.org/clinvar/213766 ^@ NM_005902.3(SMAD3):c.803G>A (p.Arg268His) http://identifiers.org/clinvar/213767 ^@ NM_005902.3(SMAD3):c.821T>C (p.Leu274Pro) http://identifiers.org/clinvar/213770 ^@ NM_005902.3(SMAD3):c.880G>A (p.Val294Met) http://identifiers.org/clinvar/213796 ^@ NM_005902.3(SMAD3):c.934G>A (p.Ala312Thr) http://identifiers.org/clinvar/213805 ^@ NM_005902.3(SMAD3):c.942delT (p.Phe314Leufs) http://identifiers.org/clinvar/213771 ^@ NM_005902.3(SMAD3):c.947A>C (p.Gln316Pro) http://identifiers.org/clinvar/213772 ^@ NM_005902.3(SMAD3):c.1064C>T (p.Ser355Leu) http://identifiers.org/clinvar/213773 ^@ NM_005902.3(SMAD3):c.1070A>G (p.Asn357Ser) http://identifiers.org/clinvar/213794 ^@ NM_005902.3(SMAD3):c.1081G>C (p.Glu361Gln) http://identifiers.org/clinvar/213774 ^@ NM_005902.3(SMAD3):c.1117C>T (p.Arg373Cys) http://identifiers.org/clinvar/213775 ^@ NM_005902.3(SMAD3):c.1165G>A (p.Val389Met) http://identifiers.org/clinvar/213776 ^@ NM_005902.3(SMAD3):c.1222G>C (p.Asp408His) http://identifiers.org/clinvar/213777 ^@ NM_005902.3(SMAD3):c.1228G>T (p.Val410Phe) http://identifiers.org/clinvar/213546 ^@ NM_000214.2(JAG1):c.3309dupA (p.His1104Thrfs) http://identifiers.org/clinvar/213564 ^@ NM_000214.2(JAG1):c.3067delG (p.Asp1023Metfs) http://identifiers.org/clinvar/213563 ^@ NM_000214.2(JAG1):c.3008_3009dupAG (p.Pro1004Serfs) http://identifiers.org/clinvar/213562 ^@ NM_000214.2(JAG1):c.2948delT (p.Leu983Terfs) http://identifiers.org/clinvar/213571 ^@ NM_000214.2(JAG1):c.2924_2925dupCT (p.Thr976Leufs) http://identifiers.org/clinvar/213527 ^@ NM_000214.2(JAG1):c.2810G>A (p.Arg937Gln) http://identifiers.org/clinvar/213526 ^@ NM_000214.2(JAG1):c.2766C>T (p.Asp922=) http://identifiers.org/clinvar/213561 ^@ NM_000214.2(JAG1):c.2619_2620delGG (p.Ala874Glnfs) http://identifiers.org/clinvar/213560 ^@ NM_000214.2(JAG1):c.2465delA (p.Asn822Metfs) http://identifiers.org/clinvar/213559 ^@ NM_000214.2(JAG1):c.2257dupT (p.Cys753Leufs) http://identifiers.org/clinvar/213538 ^@ NM_000214.2(JAG1):c.2230C>T (p.Arg744Ter) http://identifiers.org/clinvar/213567 ^@ NM_000214.2(JAG1):c.2106C>A (p.Cys702Ter) http://identifiers.org/clinvar/213570 ^@ NM_000214.2(JAG1):c.1946_1951delACTCCTinsCTCC (p.Asn649Thrfs) http://identifiers.org/clinvar/213535 ^@ NM_000214.2(JAG1):c.1826C>T (p.Ser609Leu) http://identifiers.org/clinvar/213534 ^@ NM_000214.2(JAG1):c.1627C>T (p.Arg543Cys) http://identifiers.org/clinvar/213532 ^@ NM_000214.2(JAG1):c.1339T>C (p.Cys447Arg) http://identifiers.org/clinvar/213558 ^@ NM_000214.2(JAG1):c.1205dupC (p.Gln403Thrfs) http://identifiers.org/clinvar/213557 ^@ NM_000214.2(JAG1):c.1198_1199dupTG (p.Pro401Alafs) http://identifiers.org/clinvar/213556 ^@ NM_000214.2(JAG1):c.1047dupC (p.Ser350Glnfs) http://identifiers.org/clinvar/213555 ^@ NM_000214.2(JAG1):c.974_975delCT (p.Pro325Argfs) http://identifiers.org/clinvar/213530 ^@ NM_000214.2(JAG1):c.910C>T (p.Gln304Ter) http://identifiers.org/clinvar/213525 ^@ NM_000214.2(JAG1):c.909T>C (p.His303=) http://identifiers.org/clinvar/213554 ^@ NM_000214.2(JAG1):c.797delT (p.Ile266Thrfs) http://identifiers.org/clinvar/213551 ^@ NM_000214.2(JAG1):c.664delG (p.Glu222Lysfs) http://identifiers.org/clinvar/213566 ^@ NM_000214.2(JAG1):c.626A>G (p.His209Arg) http://identifiers.org/clinvar/213550 ^@ NM_000214.2(JAG1):c.587_588delGCinsT (p.Cys196Leufs) http://identifiers.org/clinvar/213565 ^@ NM_000214.2(JAG1):c.544C>T (p.Gln182Ter) http://identifiers.org/clinvar/213549 ^@ NM_000214.2(JAG1):c.537dupT (p.Glu180Terfs) http://identifiers.org/clinvar/213524 ^@ NM_000214.2(JAG1):c.440-15T>C http://identifiers.org/clinvar/213529 ^@ NM_000214.2(JAG1):c.439+1G>A http://identifiers.org/clinvar/213553 ^@ NM_000214.2(JAG1):c.270dupG (p.Pro91Alafs) http://identifiers.org/clinvar/213552 ^@ NM_000214.2(JAG1):c.192dupC (p.Lys65Glnfs) http://identifiers.org/clinvar/213547 ^@ NM_000214.2(JAG1):c.-6_24del30 http://identifiers.org/clinvar/213548 ^@ NM_000214.2(JAG1):c.7dupT (p.Ser3Phefs) http://identifiers.org/clinvar/213744 ^@ NM_030777.3(SLC2A10):c.129C>G (p.Ser43Arg) http://identifiers.org/clinvar/213711 ^@ NM_030777.3(SLC2A10):c.145T>A (p.Phe49Ile) http://identifiers.org/clinvar/213712 ^@ NM_030777.3(SLC2A10):c.316G>A (p.Ala106Thr) http://identifiers.org/clinvar/213713 ^@ NM_030777.3(SLC2A10):c.317C>G (p.Ala106Gly) http://identifiers.org/clinvar/213727 ^@ NM_030777.3(SLC2A10):c.371C>T (p.Ser124Leu) http://identifiers.org/clinvar/213745 ^@ NM_030777.3(SLC2A10):c.416A>G (p.Tyr139Cys) http://identifiers.org/clinvar/213746 ^@ NM_030777.3(SLC2A10):c.430A>T (p.Thr144Ser) http://identifiers.org/clinvar/213728 ^@ NM_030777.3(SLC2A10):c.443T>C (p.Leu148Pro) http://identifiers.org/clinvar/213747 ^@ NM_030777.3(SLC2A10):c.504C>A (p.Phe168Leu) http://identifiers.org/clinvar/213714 ^@ NM_030777.3(SLC2A10):c.587A>T (p.Lys196Met) http://identifiers.org/clinvar/213715 ^@ NM_030777.3(SLC2A10):c.635G>C (p.Gly212Ala) http://identifiers.org/clinvar/213716 ^@ NM_030777.3(SLC2A10):c.644G>A (p.Arg215Gln) http://identifiers.org/clinvar/213729 ^@ NM_030777.3(SLC2A10):c.673C>T (p.Arg225Cys) http://identifiers.org/clinvar/213717 ^@ NM_030777.3(SLC2A10):c.765C>T (p.Ser255=) http://identifiers.org/clinvar/213718 ^@ NM_030777.3(SLC2A10):c.780C>T (p.Ser260=) http://identifiers.org/clinvar/213719 ^@ NM_030777.3(SLC2A10):c.794G>C (p.Gly265Ala) http://identifiers.org/clinvar/213748 ^@ NM_030777.3(SLC2A10):c.848C>A (p.Ala283Asp) http://identifiers.org/clinvar/213730 ^@ NM_030777.3(SLC2A10):c.859G>A (p.Ala287Thr) http://identifiers.org/clinvar/213731 ^@ NM_030777.3(SLC2A10):c.878G>A (p.Arg293His) http://identifiers.org/clinvar/213732 ^@ NM_030777.3(SLC2A10):c.929C>T (p.Ser310Phe) http://identifiers.org/clinvar/213720 ^@ NM_030777.3(SLC2A10):c.931G>A (p.Val311Ile) http://identifiers.org/clinvar/213749 ^@ NM_030777.3(SLC2A10):c.995T>C (p.Val332Ala) http://identifiers.org/clinvar/213721 ^@ NM_030777.3(SLC2A10):c.1010G>C (p.Gly337Ala) http://identifiers.org/clinvar/213722 ^@ NM_030777.3(SLC2A10):c.1057C>G (p.Leu353Val) http://identifiers.org/clinvar/213733 ^@ NM_030777.3(SLC2A10):c.1096C>T (p.Pro366Ser) http://identifiers.org/clinvar/213734 ^@ NM_030777.3(SLC2A10):c.1175G>A (p.Ser392Asn) http://identifiers.org/clinvar/213723 ^@ NM_030777.3(SLC2A10):c.1208G>A (p.Arg403Gln) http://identifiers.org/clinvar/213724 ^@ NM_030777.3(SLC2A10):c.1225C>T (p.Arg409Cys) http://identifiers.org/clinvar/213735 ^@ NM_030777.3(SLC2A10):c.1324G>C (p.Glu442Gln) http://identifiers.org/clinvar/213736 ^@ NM_030777.3(SLC2A10):c.1351T>G (p.Cys451Gly) http://identifiers.org/clinvar/213737 ^@ NM_030777.3(SLC2A10):c.1370C>T (p.Ala457Val) http://identifiers.org/clinvar/213738 ^@ NM_030777.3(SLC2A10):c.1387A>C (p.Ser463Arg) http://identifiers.org/clinvar/213750 ^@ NM_030777.3(SLC2A10):c.1402G>A (p.Asp468Asn) http://identifiers.org/clinvar/213751 ^@ NM_030777.3(SLC2A10):c.1411+2T>A http://identifiers.org/clinvar/213739 ^@ NM_030777.3(SLC2A10):c.1415C>T (p.Thr472Ile) http://identifiers.org/clinvar/213740 ^@ NM_030777.3(SLC2A10):c.1423T>G (p.Leu475Val) http://identifiers.org/clinvar/213752 ^@ NM_030777.3(SLC2A10):c.1481A>G (p.Tyr494Cys) http://identifiers.org/clinvar/213741 ^@ NM_030777.3(SLC2A10):c.1571G>A (p.Arg524Lys) http://identifiers.org/clinvar/213725 ^@ NM_030777.3(SLC2A10):c.1593G>A (p.Pro531=) http://identifiers.org/clinvar/213742 ^@ NM_030777.3(SLC2A10):c.1600C>T (p.Arg534Cys) http://identifiers.org/clinvar/213743 ^@ NM_030777.3(SLC2A10):c.1616C>T (p.Ala539Val) http://identifiers.org/clinvar/212838 ^@ NM_000071.2(CBS):c.*123C>G http://identifiers.org/clinvar/212837 ^@ NM_000071.2(CBS):c.*27C>T http://identifiers.org/clinvar/212869 ^@ NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) http://identifiers.org/clinvar/212836 ^@ NM_000071.2(CBS):c.1632C>T (p.Ala544=) http://identifiers.org/clinvar/212835 ^@ NM_000071.2(CBS):c.1539C>T (p.His513=) http://identifiers.org/clinvar/212834 ^@ NM_000071.2(CBS):c.1479G>A (p.Thr493=) http://identifiers.org/clinvar/212882 ^@ NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) http://identifiers.org/clinvar/212832 ^@ NM_000071.2(CBS):c.1359-14C>T http://identifiers.org/clinvar/212868 ^@ NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) http://identifiers.org/clinvar/212867 ^@ NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) http://identifiers.org/clinvar/212829 ^@ NM_000071.2(CBS):c.1266G>A (p.Pro422=) http://identifiers.org/clinvar/212828 ^@ NM_000071.2(CBS):c.1223+12C>T http://identifiers.org/clinvar/212863 ^@ NM_000071.2(CBS):c.1223+5G>A http://identifiers.org/clinvar/212865 ^@ NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) http://identifiers.org/clinvar/212881 ^@ NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) http://identifiers.org/clinvar/212864 ^@ NM_000071.2(CBS):c.1114G>T (p.Val372Phe) http://identifiers.org/clinvar/212862 ^@ NM_000071.2(CBS):c.1111G>A (p.Val371Met) http://identifiers.org/clinvar/212860 ^@ NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) http://identifiers.org/clinvar/212880 ^@ NM_000071.2(CBS):c.1070C>G (p.Ala357Gly) http://identifiers.org/clinvar/212827 ^@ NM_000071.2(CBS):c.1059G>A (p.Thr353=) http://identifiers.org/clinvar/212861 ^@ NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) http://identifiers.org/clinvar/212859 ^@ NM_000071.2(CBS):c.1009A>G (p.Met337Val) http://identifiers.org/clinvar/212858 ^@ NM_000071.2(CBS):c.1009A>C (p.Met337Leu) http://identifiers.org/clinvar/212857 ^@ NM_000071.2(CBS):c.992C>A (p.Ala331Glu) http://identifiers.org/clinvar/212856 ^@ NM_000071.2(CBS):c.969G>A (p.Trp323Ter) http://identifiers.org/clinvar/212824 ^@ NM_000071.2(CBS):c.939G>A (p.Thr313=) http://identifiers.org/clinvar/212855 ^@ NM_000071.2(CBS):c.856A>G (p.Ile286Val) http://identifiers.org/clinvar/212823 ^@ NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282Hisfs) http://identifiers.org/clinvar/212854 ^@ NM_000071.2(CBS):c.750G>A (p.Met250Ile) http://identifiers.org/clinvar/212853 ^@ NM_000071.2(CBS):c.736+2T>G http://identifiers.org/clinvar/212852 ^@ NM_000071.2(CBS):c.700G>A (p.Asp234Asn) http://identifiers.org/clinvar/212821 ^@ NM_000071.2(CBS):c.675C>T (p.Asn225=) http://identifiers.org/clinvar/212851 ^@ NM_000071.2(CBS):c.670C>T (p.Arg224Cys) http://identifiers.org/clinvar/212820 ^@ NM_000071.2(CBS):c.667-13_667-10delTCTT http://identifiers.org/clinvar/212850 ^@ NM_000071.2(CBS):c.636C>G (p.Asn212Lys) http://identifiers.org/clinvar/212849 ^@ NM_000071.2(CBS):c.616G>A (p.Val206Met) http://identifiers.org/clinvar/212848 ^@ NM_000071.2(CBS):c.610G>A (p.Val204Met) http://identifiers.org/clinvar/212845 ^@ NM_000071.2(CBS):c.401G>C (p.Gly134Ala) http://identifiers.org/clinvar/212879 ^@ NM_000071.2(CBS):c.400G>A (p.Gly134Arg) http://identifiers.org/clinvar/212844 ^@ NM_000071.2(CBS):c.397G>A (p.Asp133Asn) http://identifiers.org/clinvar/212843 ^@ NM_000071.2(CBS):c.394C>T (p.Arg132Cys) http://identifiers.org/clinvar/212842 ^@ NM_000071.2(CBS):c.361C>T (p.Arg121Cys) http://identifiers.org/clinvar/212878 ^@ NM_000071.2(CBS):c.325T>C (p.Cys109Arg) http://identifiers.org/clinvar/212874 ^@ NM_000071.2(CBS):c.253G>A (p.Gly85Arg) http://identifiers.org/clinvar/212883 ^@ NM_000071.2(CBS):c.215A>T (p.Lys72Ile) http://identifiers.org/clinvar/212841 ^@ NM_000071.2(CBS):c.209C>T (p.Pro70Leu) http://identifiers.org/clinvar/212873 ^@ NM_000071.2(CBS):c.162G>A (p.Trp54Ter) http://identifiers.org/clinvar/212872 ^@ NM_000071.2(CBS):c.146C>T (p.Pro49Leu) http://identifiers.org/clinvar/212871 ^@ NM_000071.2(CBS):c.133C>T (p.Arg45Trp) http://identifiers.org/clinvar/212870 ^@ NM_000071.2(CBS):c.65A>G (p.His22Arg) http://identifiers.org/clinvar/212840 ^@ NM_000071.2(CBS):c.34C>T (p.Pro12Ser) http://identifiers.org/clinvar/212839 ^@ NM_000071.2(CBS):c.5C>T (p.Pro2Leu) http://identifiers.org/clinvar/213498 ^@ NM_001456.3(FLNA):c.7917_7918delCT (p.Ter2640Serfs) http://identifiers.org/clinvar/213511 ^@ NM_001456.3(FLNA):c.7903C>T (p.Arg2635Cys) http://identifiers.org/clinvar/213487 ^@ NM_001456.3(FLNA):c.7625C>T (p.Pro2542Leu) http://identifiers.org/clinvar/213510 ^@ NM_001456.3(FLNA):c.7426C>T (p.Arg2476Cys) http://identifiers.org/clinvar/213455 ^@ NM_001456.3(FLNA):c.7386C>A (p.Ser2462=) http://identifiers.org/clinvar/213485 ^@ NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) http://identifiers.org/clinvar/213454 ^@ NM_001456.3(FLNA):c.7197C>T (p.Asn2399=) http://identifiers.org/clinvar/213509 ^@ NM_001456.3(FLNA):c.7043G>A (p.Ser2348Asn) http://identifiers.org/clinvar/213483 ^@ NM_001456.3(FLNA):c.6943G>A (p.Val2315Met) http://identifiers.org/clinvar/213453 ^@ NM_001456.3(FLNA):c.6883+14G>T http://identifiers.org/clinvar/213523 ^@ NM_001456.3(FLNA):c.6577delC (p.Arg2193Alafs) http://identifiers.org/clinvar/213496 ^@ NM_001456.3(FLNA):c.6363dupC (p.Phe2122Leufs) http://identifiers.org/clinvar/213481 ^@ NM_001456.3(FLNA):c.6326A>G (p.Asn2109Ser) http://identifiers.org/clinvar/213480 ^@ NM_001456.3(FLNA):c.6290C>G (p.Thr2097Ser) http://identifiers.org/clinvar/213479 ^@ NM_001456.3(FLNA):c.6064G>A (p.Val2022Met) http://identifiers.org/clinvar/213478 ^@ NM_001456.3(FLNA):c.5563G>A (p.Val1855Ile) http://identifiers.org/clinvar/213477 ^@ NM_001456.3(FLNA):c.5318A>G (p.Asn1773Ser) http://identifiers.org/clinvar/213452 ^@ NM_001456.3(FLNA):c.5289+4C>T http://identifiers.org/clinvar/213451 ^@ NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) http://identifiers.org/clinvar/213476 ^@ NM_001456.3(FLNA):c.5131A>C (p.Lys1711Gln) http://identifiers.org/clinvar/213508 ^@ NM_001456.3(FLNA):c.4973T>C (p.Ile1658Thr) http://identifiers.org/clinvar/213450 ^@ NM_001456.3(FLNA):c.4945+12C>T http://identifiers.org/clinvar/213507 ^@ NM_001456.3(FLNA):c.4666A>G (p.Asn1556Asp) http://identifiers.org/clinvar/213449 ^@ NM_001456.3(FLNA):c.4494C>T (p.Asp1498=) http://identifiers.org/clinvar/213448 ^@ NM_001456.3(FLNA):c.4327C>A (p.His1443Asn) http://identifiers.org/clinvar/213506 ^@ NM_001456.3(FLNA):c.4082A>G (p.His1361Arg) http://identifiers.org/clinvar/213495 ^@ NM_001456.3(FLNA):c.4071_4074dupGGTG (p.Arg1359Glyfs) http://identifiers.org/clinvar/213494 ^@ NM_001456.3(FLNA):c.3921delC (p.Tyr1308Thrfs) http://identifiers.org/clinvar/213474 ^@ NM_001456.3(FLNA):c.3887G>A (p.Arg1296His) http://identifiers.org/clinvar/213447 ^@ NM_001456.3(FLNA):c.3805+16G>A http://identifiers.org/clinvar/213473 ^@ NM_001456.3(FLNA):c.3634C>T (p.His1212Tyr) http://identifiers.org/clinvar/213471 ^@ NM_001456.3(FLNA):c.3421G>A (p.Ala1141Thr) http://identifiers.org/clinvar/213522 ^@ NM_001456.3(FLNA):c.3408dupC (p.Asn1137Glnfs) http://identifiers.org/clinvar/213446 ^@ NM_001456.3(FLNA):c.3406A>G (p.Ile1136Val) http://identifiers.org/clinvar/213445 ^@ NM_001456.3(FLNA):c.3387C>T (p.Thr1129=) http://identifiers.org/clinvar/213469 ^@ NM_001456.3(FLNA):c.3308C>T (p.Thr1103Met) http://identifiers.org/clinvar/213505 ^@ NM_001456.3(FLNA):c.3259C>T (p.Arg1087Cys) http://identifiers.org/clinvar/213504 ^@ NM_001456.3(FLNA):c.3230T>C (p.Leu1077Pro) http://identifiers.org/clinvar/213444 ^@ NM_001456.3(FLNA):c.3208-5delC http://identifiers.org/clinvar/213443 ^@ NM_001456.3(FLNA):c.3207+14G>A http://identifiers.org/clinvar/213503 ^@ NM_001456.3(FLNA):c.2925G>C (p.Lys975Asn) http://identifiers.org/clinvar/213467 ^@ NM_001456.3(FLNA):c.2845G>A (p.Val949Ile) http://identifiers.org/clinvar/213442 ^@ NM_001456.3(FLNA):c.2843A>G (p.Asn948Ser) http://identifiers.org/clinvar/213466 ^@ NM_001456.3(FLNA):c.2813C>T (p.Thr938Met) http://identifiers.org/clinvar/213441 ^@ NM_001456.3(FLNA):c.2516C>T (p.Thr839Met) http://identifiers.org/clinvar/213502 ^@ NM_001456.3(FLNA):c.2410G>A (p.Val804Ile) http://identifiers.org/clinvar/213465 ^@ NM_001456.3(FLNA):c.2361C>G (p.His787Gln) http://identifiers.org/clinvar/213501 ^@ NM_001456.3(FLNA):c.2330C>G (p.Pro777Arg) http://identifiers.org/clinvar/213493 ^@ NM_001110556.1(FLNA):c.2254_2268delGTCAGCATCCCCAACinsCACCCTGAAGGG (p.Val752_Asn756delinsHisProGluGly) http://identifiers.org/clinvar/213440 ^@ NM_001456.3(FLNA):c.2205C>T (p.Tyr735=) http://identifiers.org/clinvar/213492 ^@ NM_001456.3(FLNA):c.2190_2193delTTAC (p.Tyr731Alafs) http://identifiers.org/clinvar/213464 ^@ NM_001456.3(FLNA):c.2162C>T (p.Ala721Val) http://identifiers.org/clinvar/213463 ^@ NM_001456.3(FLNA):c.2123G>A (p.Arg708Gln) http://identifiers.org/clinvar/213439 ^@ NM_001456.3(FLNA):c.1998G>A (p.Ala666=) http://identifiers.org/clinvar/213438 ^@ NM_001456.3(FLNA):c.1829-13T>C http://identifiers.org/clinvar/213500 ^@ NM_001456.3(FLNA):c.1813G>A (p.Asp605Asn) http://identifiers.org/clinvar/213437 ^@ NM_001456.3(FLNA):c.1768G>A (p.Val590Ile) http://identifiers.org/clinvar/213436 ^@ NM_001456.3(FLNA):c.1716C>T (p.Thr572=) http://identifiers.org/clinvar/213521 ^@ NM_001456.3(FLNA):c.1621G>A (p.Glu541Lys) http://identifiers.org/clinvar/213461 ^@ NM_001456.3(FLNA):c.1616G>A (p.Gly539Asp) http://identifiers.org/clinvar/213520 ^@ NM_001456.3(FLNA):c.1451G>A (p.Arg484Gln) http://identifiers.org/clinvar/213519 ^@ NM_001456.3(FLNA):c.1366G>A (p.Val456Met) http://identifiers.org/clinvar/213517 ^@ NM_001456.3(FLNA):c.1291G>C (p.Glu431Gln) http://identifiers.org/clinvar/213515 ^@ NM_001456.3(FLNA):c.1200G>T (p.Lys400Asn) http://identifiers.org/clinvar/213460 ^@ NM_001456.3(FLNA):c.1191C>T (p.Ile397=) http://identifiers.org/clinvar/213459 ^@ NM_001456.3(FLNA):c.1044C>T (p.Pro348=) http://identifiers.org/clinvar/213458 ^@ NM_001456.3(FLNA):c.942A>G (p.Gly314=) http://identifiers.org/clinvar/213514 ^@ NM_001456.3(FLNA):c.854G>A (p.Arg285His) http://identifiers.org/clinvar/213491 ^@ NM_001456.3(FLNA):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/213490 ^@ NM_001456.3(FLNA):c.542C>T (p.Pro181Leu) http://identifiers.org/clinvar/213513 ^@ NM_001456.3(FLNA):c.500C>A (p.Thr167Asn) http://identifiers.org/clinvar/213512 ^@ NM_001456.3(FLNA):c.462G>T (p.Met154Ile) http://identifiers.org/clinvar/213457 ^@ NM_001456.3(FLNA):c.64_65insTCG (p.Val21_Asp22insVal) http://identifiers.org/clinvar/213456 ^@ NM_001456.3(FLNA):c.-19dupC http://identifiers.org/clinvar/213613 ^@ NM_005120.2(MED12):c.204+12_204+13delCT http://identifiers.org/clinvar/213617 ^@ NM_005120.2(MED12):c.397-12A>T http://identifiers.org/clinvar/213630 ^@ NM_005120.2(MED12):c.1028C>T (p.Ser343Leu) http://identifiers.org/clinvar/213631 ^@ NM_005120.2(MED12):c.1039A>G (p.Ser347Gly) http://identifiers.org/clinvar/213620 ^@ NM_005120.2(MED12):c.1101+18C>T http://identifiers.org/clinvar/213632 ^@ NM_005120.2(MED12):c.1264C>T (p.Arg422Trp) http://identifiers.org/clinvar/213621 ^@ NM_005120.2(MED12):c.1386G>T (p.Val462=) http://identifiers.org/clinvar/213645 ^@ NM_005120.2(MED12):c.1660G>A (p.Ala554Thr) http://identifiers.org/clinvar/213646 ^@ NM_005120.2(MED12):c.1754G>A (p.Arg585Gln) http://identifiers.org/clinvar/213633 ^@ NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) http://identifiers.org/clinvar/213647 ^@ NM_005120.2(MED12):c.2093G>A (p.Ser698Asn) http://identifiers.org/clinvar/213634 ^@ NM_005120.2(MED12):c.2252A>G (p.Asn751Ser) http://identifiers.org/clinvar/213622 ^@ NM_005120.2(MED12):c.2981+13G>A http://identifiers.org/clinvar/213638 ^@ NM_005120.2(MED12):c.3210G>T (p.Arg1070Ser) http://identifiers.org/clinvar/213640 ^@ NM_005120.2(MED12):c.3883C>T (p.Arg1295Cys) http://identifiers.org/clinvar/213649 ^@ NM_005120.2(MED12):c.3928_3930delCCAinsTCC (p.Pro1310Ser) http://identifiers.org/clinvar/213641 ^@ NM_005120.2(MED12):c.4021C>T (p.Arg1341Trp) http://identifiers.org/clinvar/213623 ^@ NM_005120.2(MED12):c.4115A>G (p.Asn1372Ser) http://identifiers.org/clinvar/213624 ^@ NM_005120.2(MED12):c.4147G>A (p.Ala1383Thr) http://identifiers.org/clinvar/213626 ^@ NM_005120.2(MED12):c.4372G>C (p.Gly1458Arg) http://identifiers.org/clinvar/213614 ^@ NM_005120.2(MED12):c.4416-40_4416-16del25 http://identifiers.org/clinvar/213615 ^@ NM_005120.2(MED12):c.5510G>C (p.Gly1837Ala) http://identifiers.org/clinvar/213616 ^@ NM_005120.2(MED12):c.5748+16G>T http://identifiers.org/clinvar/213627 ^@ NM_005120.2(MED12):c.6097A>G (p.Met2033Val) http://identifiers.org/clinvar/213628 ^@ NM_005120.2(MED12):c.6139A>G (p.Ile2047Val) http://identifiers.org/clinvar/213618 ^@ NM_005120.2(MED12):c.6162_6167delGCAGCA (p.Gln2075_Gln2076del) http://identifiers.org/clinvar/213619 ^@ NM_005120.2(MED12):c.6223_6228dupCAGCAG (p.Gln2076_Tyr2077insGlnGln) http://identifiers.org/clinvar/213643 ^@ NM_005120.2(MED12):c.6235A>G (p.Ile2079Val) http://identifiers.org/clinvar/213650 ^@ NM_005120.2(MED12):c.6256_6258delCAG (p.Gln2086del) http://identifiers.org/clinvar/214656 ^@ NM_014874.3(MFN2):c.58C>T (p.His20Tyr) http://identifiers.org/clinvar/214639 ^@ NM_014874.3(MFN2):c.159C>T (p.Ser53=) http://identifiers.org/clinvar/214657 ^@ NM_014874.3(MFN2):c.160G>A (p.Ala54Thr) http://identifiers.org/clinvar/214652 ^@ NM_014874.3(MFN2):c.314C>T (p.Thr105Met) http://identifiers.org/clinvar/214640 ^@ NM_014874.3(MFN2):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/214641 ^@ NM_014874.3(MFN2):c.725A>G (p.His242Arg) http://identifiers.org/clinvar/214653 ^@ NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) http://identifiers.org/clinvar/214642 ^@ NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) http://identifiers.org/clinvar/214643 ^@ NM_014874.3(MFN2):c.898C>T (p.Arg300Cys) http://identifiers.org/clinvar/214633 ^@ NM_014874.3(MFN2):c.970+19G>A http://identifiers.org/clinvar/214644 ^@ NM_014874.3(MFN2):c.1108G>C (p.Glu370Gln) http://identifiers.org/clinvar/214654 ^@ NM_014874.3(MFN2):c.1165T>C (p.Tyr389His) http://identifiers.org/clinvar/214634 ^@ NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser) http://identifiers.org/clinvar/214635 ^@ NM_014874.3(MFN2):c.1806C>T (p.Ser602=) http://identifiers.org/clinvar/214636 ^@ NM_014874.3(MFN2):c.1827C>T (p.Ser609=) http://identifiers.org/clinvar/214655 ^@ NM_014874.3(MFN2):c.1904C>A (p.Ala635Asp) http://identifiers.org/clinvar/214647 ^@ NM_014874.3(MFN2):c.1951A>G (p.Thr651Ala) http://identifiers.org/clinvar/214637 ^@ NM_014874.3(MFN2):c.1976G>A (p.Arg659Lys) http://identifiers.org/clinvar/214648 ^@ NM_014874.3(MFN2):c.1987C>T (p.Arg663Cys) http://identifiers.org/clinvar/214649 ^@ NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) http://identifiers.org/clinvar/214650 ^@ NM_014874.3(MFN2):c.2146G>C (p.Ala716Pro) http://identifiers.org/clinvar/214638 ^@ NM_014874.3(MFN2):c.2205-13C>A http://identifiers.org/clinvar/214788 ^@ NM_004550.4(NDUFS2):c.30C>A (p.Phe10Leu) http://identifiers.org/clinvar/214789 ^@ NM_004550.4(NDUFS2):c.70G>C (p.Val24Leu) http://identifiers.org/clinvar/214790 ^@ NM_004550.4(NDUFS2):c.95+9G>C http://identifiers.org/clinvar/214799 ^@ NM_004550.4(NDUFS2):c.158A>G (p.Tyr53Cys) http://identifiers.org/clinvar/214791 ^@ NM_004550.4(NDUFS2):c.177C>T (p.Ala59=) http://identifiers.org/clinvar/214792 ^@ NM_004550.4(NDUFS2):c.212C>T (p.Pro71Leu) http://identifiers.org/clinvar/214800 ^@ NM_004550.4(NDUFS2):c.393+5G>A http://identifiers.org/clinvar/214786 ^@ NM_004550.4(NDUFS2):c.540G>A (p.Leu180=) http://identifiers.org/clinvar/214798 ^@ NM_004550.4(NDUFS2):c.781-4A>G http://identifiers.org/clinvar/214793 ^@ NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) http://identifiers.org/clinvar/214794 ^@ NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) http://identifiers.org/clinvar/214787 ^@ NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) http://identifiers.org/clinvar/214795 ^@ NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp) http://identifiers.org/clinvar/214796 ^@ NM_004550.4(NDUFS2):c.1212G>A (p.Lys404=) http://identifiers.org/clinvar/214797 ^@ NM_004550.4(NDUFS2):c.1225G>A (p.Val409Met) http://identifiers.org/clinvar/214037 ^@ NM_020247.4(COQ8A):c.11T>A (p.Ile4Lys) http://identifiers.org/clinvar/214025 ^@ NM_020247.4(COQ8A):c.62C>T (p.Ala21Val) http://identifiers.org/clinvar/214038 ^@ NM_020247.4(COQ8A):c.97G>A (p.Gly33Arg) http://identifiers.org/clinvar/214026 ^@ NM_020247.4(COQ8A):c.238C>T (p.His80Tyr) http://identifiers.org/clinvar/214029 ^@ NM_020247.4(COQ8A):c.445C>T (p.Pro149Ser) http://identifiers.org/clinvar/214030 ^@ NM_020247.4(COQ8A):c.497A>G (p.Asp166Gly) http://identifiers.org/clinvar/214039 ^@ NM_020247.4(COQ8A):c.526G>A (p.Glu176Lys) http://identifiers.org/clinvar/214040 ^@ NM_020247.4(COQ8A):c.588G>A (p.Thr196=) http://identifiers.org/clinvar/214031 ^@ NM_020247.4(COQ8A):c.618G>A (p.Val206=) http://identifiers.org/clinvar/214032 ^@ NM_020247.4(COQ8A):c.655+9G>A http://identifiers.org/clinvar/214041 ^@ NM_020247.4(COQ8A):c.664G>A (p.Val222Met) http://identifiers.org/clinvar/214033 ^@ NM_020247.4(COQ8A):c.697G>A (p.Ala233Thr) http://identifiers.org/clinvar/214042 ^@ NM_020247.4(COQ8A):c.892G>A (p.Glu298Lys) http://identifiers.org/clinvar/214043 ^@ NM_020247.4(COQ8A):c.1028A>G (p.Gln343Arg) http://identifiers.org/clinvar/214044 ^@ NM_020247.4(COQ8A):c.1286A>G (p.Tyr429Cys) http://identifiers.org/clinvar/214048 ^@ NM_020247.4(COQ8A):c.1393A>C (p.Asn465His) http://identifiers.org/clinvar/214047 ^@ NM_020247.4(COQ8A):c.1398+3_1398+6delTTGT http://identifiers.org/clinvar/214034 ^@ NM_020247.4(COQ8A):c.1613G>A (p.Arg538Gln) http://identifiers.org/clinvar/214035 ^@ NM_020247.4(COQ8A):c.1753G>C (p.Glu585Gln) http://identifiers.org/clinvar/214050 ^@ NM_020247.4(COQ8A):c.1805C>A (p.Pro602Gln) http://identifiers.org/clinvar/214046 ^@ NM_020247.4(COQ8A):c.1844dupG (p.Ser616Leufs) http://identifiers.org/clinvar/214045 ^@ NM_020247.4(COQ8A):c.1900G>A (p.Glu634Lys) http://identifiers.org/clinvar/214036 ^@ NM_020247.4(COQ8A):c.1914C>T (p.Ser638=) http://identifiers.org/clinvar/214388 ^@ NM_000143.3(FH):c.1446A>C (p.Leu482Phe) http://identifiers.org/clinvar/214407 ^@ NM_000143.3(FH):c.1430_1437dupAAAATGGA (p.Ser480Lysfs) http://identifiers.org/clinvar/214406 ^@ NM_000143.3(FH):c.1400dupA (p.Ala468Glyfs) http://identifiers.org/clinvar/214425 ^@ NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) http://identifiers.org/clinvar/214387 ^@ NM_000143.3(FH):c.1391-1G>C http://identifiers.org/clinvar/214423 ^@ NM_000143.3(FH):c.1391-2A>T http://identifiers.org/clinvar/214405 ^@ NM_000143.3(FH):c.1370_1371insTCAC (p.Ala458Hisfs) http://identifiers.org/clinvar/214404 ^@ NM_000143.3(FH):c.1357_1358delCT (p.Leu453Asnfs) http://identifiers.org/clinvar/214403 ^@ NM_000143.3(FH):c.1349_1352delATGA (p.Asn450Serfs) http://identifiers.org/clinvar/214424 ^@ NM_000143.3(FH):c.1268T>G (p.Leu423Arg) http://identifiers.org/clinvar/214402 ^@ NM_000143.3(FH):c.1263delG (p.Arg421Serfs) http://identifiers.org/clinvar/214370 ^@ NM_000143.3(FH):c.1237-18T>A http://identifiers.org/clinvar/214422 ^@ NM_000143.3(FH):c.1189G>A (p.Gly397Arg) http://identifiers.org/clinvar/214421 ^@ NM_000143.3(FH):c.1146G>A (p.Met382Ile) http://identifiers.org/clinvar/214401 ^@ NM_000143.3(FH):c.1139_1142delTGAC (p.Met380Thrfs) http://identifiers.org/clinvar/214400 ^@ NM_000143.3(FH):c.1104_1106delGCCinsACT (p.Met368_Pro369delinsIleLeu) http://identifiers.org/clinvar/214419 ^@ NM_000143.3(FH):c.1097G>A (p.Ser366Asn) http://identifiers.org/clinvar/214374 ^@ NM_000143.3(FH):c.1093A>G (p.Ser365Gly) http://identifiers.org/clinvar/214399 ^@ NM_000143.3(FH):c.1083_1086delTGAA (p.Glu362Glnfs) http://identifiers.org/clinvar/214434 ^@ NM_000143.3(FH):c.1056dupT (p.Leu353Serfs) http://identifiers.org/clinvar/214418 ^@ NM_000143.3(FH):c.1048C>T (p.Arg350Trp) http://identifiers.org/clinvar/214417 ^@ NM_000143.3(FH):c.965T>G (p.Val322Gly) http://identifiers.org/clinvar/214416 ^@ NM_000143.3(FH):c.947C>A (p.Ala316Asp) http://identifiers.org/clinvar/214415 ^@ NM_000143.3(FH):c.937G>T (p.Glu313Ter) http://identifiers.org/clinvar/214414 ^@ NM_000143.3(FH):c.937G>A (p.Glu313Lys) http://identifiers.org/clinvar/214413 ^@ NM_000143.3(FH):c.934T>C (p.Phe312Leu) http://identifiers.org/clinvar/214398 ^@ NM_000143.3(FH):c.894_896delTGC (p.Ala299del) http://identifiers.org/clinvar/214378 ^@ NM_000143.3(FH):c.839G>A (p.Gly280Asp) http://identifiers.org/clinvar/214397 ^@ NM_000143.3(FH):c.816_836del21 (p.Ala273_Val279del) http://identifiers.org/clinvar/214377 ^@ NM_000143.3(FH):c.817G>A (p.Ala273Thr) http://identifiers.org/clinvar/214392 ^@ NM_000143.3(FH):c.797dupT (p.Met266Ilefs) http://identifiers.org/clinvar/214396 ^@ NM_000143.3(FH):c.774_794dup21 (p.Met266_Pro267insThrArgIleLysAlaAlaMet) http://identifiers.org/clinvar/214411 ^@ NM_000143.3(FH):c.736C>T (p.Gln246Ter) http://identifiers.org/clinvar/214376 ^@ NM_000143.3(FH):c.703C>T (p.His235Tyr) http://identifiers.org/clinvar/214409 ^@ NM_000143.3(FH):c.610C>A (p.His204Asn) http://identifiers.org/clinvar/214433 ^@ NM_000143.3(FH):c.554A>G (p.Gln185Arg) http://identifiers.org/clinvar/214394 ^@ NM_000143.3(FH):c.418G>C (p.Val140Leu) http://identifiers.org/clinvar/214408 ^@ NM_000143.3(FH):c.395_399delTAAAT (p.Leu132Terfs) http://identifiers.org/clinvar/214435 ^@ NM_000143.3(FH):c.295_301delTTGAAGC (p.Leu99Glufs) http://identifiers.org/clinvar/214390 ^@ NM_000143.3(FH):c.194A>G (p.Asp65Gly) http://identifiers.org/clinvar/214389 ^@ NM_000143.3(FH):c.139C>T (p.Gln47Ter) http://identifiers.org/clinvar/214372 ^@ NM_000143.3(FH):c.50C>T (p.Ala17Val) http://identifiers.org/clinvar/214391 ^@ NM_000143.3(FH):c.7C>T (p.Arg3Ter) http://identifiers.org/clinvar/214430 ^@ NM_000143.3(FH):c.7C>G (p.Arg3Gly) http://identifiers.org/clinvar/214371 ^@ NM_000143.3(FH):c.-11C>T http://identifiers.org/clinvar/214269 ^@ NM_198076.5(COX20):c.7G>T (p.Ala3Ser) http://identifiers.org/clinvar/214270 ^@ NM_198076.5(COX20):c.91C>T (p.Arg31Trp) http://identifiers.org/clinvar/214267 ^@ NM_198076.5(COX20):c.158-5_158-4insG http://identifiers.org/clinvar/214271 ^@ NM_198076.5(COX20):c.197T>G (p.Phe66Cys) http://identifiers.org/clinvar/214272 ^@ NM_198076.5(COX20):c.205G>A (p.Val69Met) http://identifiers.org/clinvar/214273 ^@ NM_198076.5(COX20):c.226C>A (p.His76Asn) http://identifiers.org/clinvar/214274 ^@ NM_198076.5(COX20):c.319G>A (p.Asp107Asn) http://identifiers.org/clinvar/214268 ^@ NM_198076.5(COX20):c.*18_*19insAAGAA http://identifiers.org/clinvar/214549 ^@ NM_002156.4(HSPD1):c.561T>C (p.Ser187=) http://identifiers.org/clinvar/214551 ^@ NM_002156.4(HSPD1):c.425G>A (p.Arg142Lys) http://identifiers.org/clinvar/214550 ^@ NM_002156.4(HSPD1):c.397A>G (p.Lys133Glu) http://identifiers.org/clinvar/214631 ^@ NM_138395.3(MARS2):c.5T>G (p.Leu2Arg) http://identifiers.org/clinvar/214632 ^@ NM_138395.3(MARS2):c.145A>G (p.Thr49Ala) http://identifiers.org/clinvar/214625 ^@ NM_138395.3(MARS2):c.606A>G (p.Pro202=) http://identifiers.org/clinvar/214629 ^@ NM_138395.3(MARS2):c.1094A>G (p.Tyr365Cys) http://identifiers.org/clinvar/214630 ^@ NM_138395.3(MARS2):c.1247A>C (p.Asn416Thr) http://identifiers.org/clinvar/214627 ^@ NM_138395.3(MARS2):c.1615C>T (p.Leu539=) http://identifiers.org/clinvar/214762 ^@ NM_002491.2(NDUFB3):c.19C>T (p.His7Tyr) http://identifiers.org/clinvar/214785 ^@ NM_005006.6(NDUFS1):c.2107G>A (p.Ala703Thr) http://identifiers.org/clinvar/214777 ^@ NM_005006.6(NDUFS1):c.1800G>C (p.Glu600Asp) http://identifiers.org/clinvar/214784 ^@ NM_005006.6(NDUFS1):c.1727G>A (p.Gly576Glu) http://identifiers.org/clinvar/214768 ^@ NM_005006.6(NDUFS1):c.1699A>G (p.Ile567Val) http://identifiers.org/clinvar/214775 ^@ NM_005006.6(NDUFS1):c.1696A>T (p.Ile566Phe) http://identifiers.org/clinvar/214774 ^@ NM_005006.6(NDUFS1):c.1600G>A (p.Val534Met) http://identifiers.org/clinvar/214773 ^@ NM_005006.6(NDUFS1):c.1423G>T (p.Val475Phe) http://identifiers.org/clinvar/214772 ^@ NM_005006.6(NDUFS1):c.1393-2A>C http://identifiers.org/clinvar/214780 ^@ NM_005006.6(NDUFS1):c.699_700delTA (p.Lys234Alafs) http://identifiers.org/clinvar/214779 ^@ NM_005006.6(NDUFS1):c.592_594delACA (p.Thr198del) http://identifiers.org/clinvar/214769 ^@ NM_005006.6(NDUFS1):c.421-6C>G http://identifiers.org/clinvar/214767 ^@ NM_005006.6(NDUFS1):c.253G>A (p.Ala85Thr) http://identifiers.org/clinvar/214781 ^@ NM_005006.6(NDUFS1):c.185G>A (p.Arg62Gln) http://identifiers.org/clinvar/214342 ^@ NM_014929.3(FASTKD2):c.182T>C (p.Leu61Ser) http://identifiers.org/clinvar/214343 ^@ NM_014929.3(FASTKD2):c.261T>A (p.Asp87Glu) http://identifiers.org/clinvar/214344 ^@ NM_014929.3(FASTKD2):c.298G>T (p.Ala100Ser) http://identifiers.org/clinvar/214350 ^@ NM_014929.3(FASTKD2):c.682C>T (p.Gln228Ter) http://identifiers.org/clinvar/214351 ^@ NM_014929.3(FASTKD2):c.911T>C (p.Ile304Thr) http://identifiers.org/clinvar/214352 ^@ NM_014929.3(FASTKD2):c.965C>T (p.Pro322Leu) http://identifiers.org/clinvar/214353 ^@ NM_014929.3(FASTKD2):c.1063A>G (p.Met355Val) http://identifiers.org/clinvar/214347 ^@ NM_014929.3(FASTKD2):c.1090G>A (p.Asp364Asn) http://identifiers.org/clinvar/214348 ^@ NM_014929.3(FASTKD2):c.1187A>G (p.Asn396Ser) http://identifiers.org/clinvar/214349 ^@ NM_014929.3(FASTKD2):c.1295G>A (p.Arg432Gln) http://identifiers.org/clinvar/214355 ^@ NM_014929.3(FASTKD2):c.1559T>G (p.Leu520Arg) http://identifiers.org/clinvar/214356 ^@ NM_014929.3(FASTKD2):c.1723A>G (p.Asn575Asp) http://identifiers.org/clinvar/214345 ^@ NM_014929.3(FASTKD2):c.1885A>G (p.Thr629Ala) http://identifiers.org/clinvar/214346 ^@ NM_014929.3(FASTKD2):c.2093C>T (p.Ala698Val) http://identifiers.org/clinvar/214354 ^@ NM_014929.3(FASTKD2):c.2128_2129dupCA (p.Gln710Hisfs) http://identifiers.org/clinvar/214155 ^@ NM_004328.4(BCS1L):c.-43G>A http://identifiers.org/clinvar/214156 ^@ NM_004328.4(BCS1L):c.126A>G (p.Ala42=) http://identifiers.org/clinvar/214157 ^@ NM_004328.4(BCS1L):c.142A>G (p.Met48Val) http://identifiers.org/clinvar/214160 ^@ NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) http://identifiers.org/clinvar/214165 ^@ NM_004328.4(BCS1L):c.269G>A (p.Arg90His) http://identifiers.org/clinvar/214166 ^@ NM_004328.4(BCS1L):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/214161 ^@ NM_004328.4(BCS1L):c.499G>A (p.Val167Met) http://identifiers.org/clinvar/214158 ^@ NM_004328.4(BCS1L):c.504G>A (p.Met168Ile) http://identifiers.org/clinvar/214167 ^@ NM_004328.4(BCS1L):c.553C>T (p.Arg185Trp) http://identifiers.org/clinvar/214159 ^@ NM_004328.4(BCS1L):c.613G>A (p.Val205Ile) http://identifiers.org/clinvar/214164 ^@ NM_004328.4(BCS1L):c.625_626delAT (p.Ile209Argfs) http://identifiers.org/clinvar/214162 ^@ NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter) http://identifiers.org/clinvar/214168 ^@ NM_004328.4(BCS1L):c.965C>G (p.Thr322Ser) http://identifiers.org/clinvar/214666 ^@ NM_022915.3(MRPL44):c.38A>G (p.His13Arg) http://identifiers.org/clinvar/214667 ^@ NM_022915.3(MRPL44):c.313C>T (p.Arg105Cys) http://identifiers.org/clinvar/214665 ^@ NM_022915.3(MRPL44):c.648+4C>T http://identifiers.org/clinvar/215160 ^@ NM_025243.3(SLC19A3):c.1379_1381dupTTA (p.Ile460_Thr461insIle) http://identifiers.org/clinvar/215158 ^@ NM_025243.3(SLC19A3):c.1332C>G (p.Ser444Arg) http://identifiers.org/clinvar/215161 ^@ NM_025243.3(SLC19A3):c.1154T>G (p.Leu385Arg) http://identifiers.org/clinvar/215155 ^@ NM_025243.3(SLC19A3):c.980-4delT http://identifiers.org/clinvar/215154 ^@ NM_025243.3(SLC19A3):c.979+19A>G http://identifiers.org/clinvar/215157 ^@ NM_025243.3(SLC19A3):c.865A>G (p.Thr289Ala) http://identifiers.org/clinvar/215153 ^@ NM_025243.3(SLC19A3):c.662A>C (p.His221Pro) http://identifiers.org/clinvar/215152 ^@ NM_025243.3(SLC19A3):c.621A>G (p.Ile207Met) http://identifiers.org/clinvar/215151 ^@ NM_025243.3(SLC19A3):c.557T>C (p.Phe186Ser) http://identifiers.org/clinvar/214705 ^@ NM_004544.3(NDUFA10):c.1000-3C>G http://identifiers.org/clinvar/214702 ^@ NM_004544.3(NDUFA10):c.1000-5delC http://identifiers.org/clinvar/214700 ^@ NM_004544.3(NDUFA10):c.1000-14delT http://identifiers.org/clinvar/214706 ^@ NM_004544.3(NDUFA10):c.631G>A (p.Val211Ile) http://identifiers.org/clinvar/214704 ^@ NM_004544.3(NDUFA10):c.622G>C (p.Asp208His) http://identifiers.org/clinvar/214708 ^@ NM_004544.3(NDUFA10):c.404T>C (p.Leu135Ser) http://identifiers.org/clinvar/214698 ^@ NM_004544.3(NDUFA10):c.215A>G (p.Lys72Arg) http://identifiers.org/clinvar/214697 ^@ NM_004544.3(NDUFA10):c.194A>G (p.Asn65Ser) http://identifiers.org/clinvar/214703 ^@ NM_004544.3(NDUFA10):c.71G>T (p.Arg24Leu) http://identifiers.org/clinvar/214699 ^@ NM_004544.3(NDUFA10):c.-38T>G http://identifiers.org/clinvar/214664 ^@ NM_002437.4(MPV17):c.370C>T (p.Gln124Ter) http://identifiers.org/clinvar/214663 ^@ NM_002437.4(MPV17):c.196G>T (p.Val66Leu) http://identifiers.org/clinvar/214662 ^@ NM_002437.4(MPV17):c.135delA (p.Glu45Aspfs) http://identifiers.org/clinvar/214660 ^@ NM_002437.4(MPV17):c.121C>T (p.Arg41Trp) http://identifiers.org/clinvar/214661 ^@ NM_002437.4(MPV17):c.20A>G (p.Tyr7Cys) http://identifiers.org/clinvar/214659 ^@ NM_002437.4(MPV17):c.-5-18C>G http://identifiers.org/clinvar/214756 ^@ NM_144736.4(NDUFAF7):c.-37delA http://identifiers.org/clinvar/214757 ^@ NM_144736.4(NDUFAF7):c.19T>A (p.Ser7Thr) http://identifiers.org/clinvar/214761 ^@ NM_144736.4(NDUFAF7):c.23G>A (p.Gly8Asp) http://identifiers.org/clinvar/214753 ^@ NM_144736.4(NDUFAF7):c.681+12_681+13delGG http://identifiers.org/clinvar/214754 ^@ NM_144736.4(NDUFAF7):c.681+14A>T http://identifiers.org/clinvar/214755 ^@ NM_144736.4(NDUFAF7):c.717C>T (p.Asp239=) http://identifiers.org/clinvar/214759 ^@ NM_144736.4(NDUFAF7):c.813T>G (p.His271Gln) http://identifiers.org/clinvar/214760 ^@ NM_144736.4(NDUFAF7):c.815T>C (p.Val272Ala) http://identifiers.org/clinvar/214599 ^@ NM_133259.3(LRPPRC):c.4132A>G (p.Ser1378Gly) http://identifiers.org/clinvar/214598 ^@ NM_133259.3(LRPPRC):c.4056T>A (p.Asp1352Glu) http://identifiers.org/clinvar/214597 ^@ NM_133259.3(LRPPRC):c.3963C>A (p.Tyr1321Ter) http://identifiers.org/clinvar/214617 ^@ NM_133259.3(LRPPRC):c.3809C>T (p.Ala1270Val) http://identifiers.org/clinvar/214595 ^@ NM_133259.3(LRPPRC):c.3641A>G (p.Gln1214Arg) http://identifiers.org/clinvar/214594 ^@ NM_133259.3(LRPPRC):c.3595A>G (p.Asn1199Asp) http://identifiers.org/clinvar/214616 ^@ NM_133259.3(LRPPRC):c.2966G>A (p.Arg989His) http://identifiers.org/clinvar/214615 ^@ NM_133259.3(LRPPRC):c.2965C>T (p.Arg989Cys) http://identifiers.org/clinvar/214623 ^@ NM_133259.3(LRPPRC):c.2861G>A (p.Arg954Lys) http://identifiers.org/clinvar/214613 ^@ NM_133259.3(LRPPRC):c.2423T>G (p.Leu808Trp) http://identifiers.org/clinvar/214612 ^@ NM_133259.3(LRPPRC):c.2398G>A (p.Gly800Ser) http://identifiers.org/clinvar/214611 ^@ NM_133259.3(LRPPRC):c.2210+4A>C http://identifiers.org/clinvar/214610 ^@ NM_133259.3(LRPPRC):c.2120C>T (p.Ser707Phe) http://identifiers.org/clinvar/214621 ^@ NM_133259.3(LRPPRC):c.2072C>T (p.Ser691Leu) http://identifiers.org/clinvar/214609 ^@ NM_133259.3(LRPPRC):c.2039A>T (p.Asp680Val) http://identifiers.org/clinvar/214608 ^@ NM_133259.3(LRPPRC):c.2020G>A (p.Glu674Lys) http://identifiers.org/clinvar/214589 ^@ NM_133259.3(LRPPRC):c.1928A>G (p.His643Arg) http://identifiers.org/clinvar/214607 ^@ NM_133259.3(LRPPRC):c.1920+1G>T http://identifiers.org/clinvar/214588 ^@ NM_133259.3(LRPPRC):c.1915A>G (p.Ile639Val) http://identifiers.org/clinvar/214618 ^@ NM_133259.3(LRPPRC):c.1649_1649+1delinsTTT http://identifiers.org/clinvar/214620 ^@ NM_133259.3(LRPPRC):c.1529C>G (p.Ala510Gly) http://identifiers.org/clinvar/214606 ^@ NM_133259.3(LRPPRC):c.1426A>G (p.Thr476Ala) http://identifiers.org/clinvar/214586 ^@ NM_133259.3(LRPPRC):c.1301G>A (p.Gly434Asp) http://identifiers.org/clinvar/214605 ^@ NM_133259.3(LRPPRC):c.1295A>G (p.Glu432Gly) http://identifiers.org/clinvar/214585 ^@ NM_133259.3(LRPPRC):c.1253A>G (p.Asn418Ser) http://identifiers.org/clinvar/214604 ^@ NM_133259.3(LRPPRC):c.1211C>A (p.Ser404Tyr) http://identifiers.org/clinvar/214584 ^@ NM_133259.3(LRPPRC):c.1184A>G (p.Lys395Arg) http://identifiers.org/clinvar/214603 ^@ NM_133259.3(LRPPRC):c.1177T>G (p.Tyr393Asp) http://identifiers.org/clinvar/214602 ^@ NM_133259.3(LRPPRC):c.908G>A (p.Arg303His) http://identifiers.org/clinvar/214601 ^@ NM_133259.3(LRPPRC):c.864+2T>C http://identifiers.org/clinvar/214583 ^@ NM_133259.3(LRPPRC):c.814G>A (p.Ala272Thr) http://identifiers.org/clinvar/214600 ^@ NM_133259.3(LRPPRC):c.695A>G (p.Glu232Gly) http://identifiers.org/clinvar/214582 ^@ NM_133259.3(LRPPRC):c.262A>C (p.Met88Leu) http://identifiers.org/clinvar/214581 ^@ NM_133259.3(LRPPRC):c.242A>G (p.Asn81Ser) http://identifiers.org/clinvar/214580 ^@ NM_133259.3(LRPPRC):c.151G>C (p.Gly51Arg) http://identifiers.org/clinvar/214624 ^@ NM_133259.3(LRPPRC):c.113_115delCCT (p.Ser38del) http://identifiers.org/clinvar/214622 ^@ NM_133259.3(LRPPRC):c.109G>T (p.Ala37Ser) http://identifiers.org/clinvar/214593 ^@ NM_133259.3(LRPPRC):c.109G>A (p.Ala37Thr) http://identifiers.org/clinvar/214592 ^@ NM_133259.3(LRPPRC):c.94G>C (p.Gly32Arg) http://identifiers.org/clinvar/214591 ^@ NM_133259.3(LRPPRC):c.79C>T (p.Leu27Phe) http://identifiers.org/clinvar/215003 ^@ NM_033109.4(PNPT1):c.*11dupT http://identifiers.org/clinvar/215011 ^@ NM_033109.4(PNPT1):c.1960C>T (p.Pro654Ser) http://identifiers.org/clinvar/215002 ^@ NM_033109.4(PNPT1):c.1674+20delT http://identifiers.org/clinvar/215001 ^@ NM_033109.4(PNPT1):c.1632C>T (p.Asp544=) http://identifiers.org/clinvar/215015 ^@ NM_033109.4(PNPT1):c.1563G>A (p.Lys521=) http://identifiers.org/clinvar/215010 ^@ NM_033109.4(PNPT1):c.1519G>T (p.Ala507Ser) http://identifiers.org/clinvar/215009 ^@ NM_033109.4(PNPT1):c.1453A>G (p.Met485Val) http://identifiers.org/clinvar/215000 ^@ NM_033109.4(PNPT1):c.1251G>A (p.Gly417=) http://identifiers.org/clinvar/214999 ^@ NM_033109.4(PNPT1):c.944A>G (p.Lys315Arg) http://identifiers.org/clinvar/214998 ^@ NM_033109.4(PNPT1):c.906C>T (p.Tyr302=) http://identifiers.org/clinvar/214997 ^@ NM_033109.4(PNPT1):c.861T>A (p.Thr287=) http://identifiers.org/clinvar/214996 ^@ NM_033109.4(PNPT1):c.852G>C (p.Val284=) http://identifiers.org/clinvar/215008 ^@ NM_033109.4(PNPT1):c.688G>C (p.Glu230Gln) http://identifiers.org/clinvar/215006 ^@ NM_033109.4(PNPT1):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/215005 ^@ NM_033109.4(PNPT1):c.493C>T (p.Pro165Ser) http://identifiers.org/clinvar/215004 ^@ NM_033109.4(PNPT1):c.122G>C (p.Ser41Thr) http://identifiers.org/clinvar/214869 ^@ NM_001002755.2(NFU1):c.303-2A>T http://identifiers.org/clinvar/214868 ^@ NM_001002755.2(NFU1):c.151G>T (p.Ala51Ser) http://identifiers.org/clinvar/214281 ^@ NM_080916.2(DGUOK):c.8C>G (p.Ala3Gly) http://identifiers.org/clinvar/214283 ^@ NM_080916.2(DGUOK):c.123C>G (p.Leu41=) http://identifiers.org/clinvar/214284 ^@ NM_080916.2(DGUOK):c.142+9C>T http://identifiers.org/clinvar/214277 ^@ NM_080916.2(DGUOK):c.176C>G (p.Thr59Arg) http://identifiers.org/clinvar/214285 ^@ NM_080916.2(DGUOK):c.462T>A (p.Asn154Lys) http://identifiers.org/clinvar/214286 ^@ NM_080916.2(DGUOK):c.591G>A (p.Gln197=) http://identifiers.org/clinvar/214288 ^@ NM_080916.2(DGUOK):c.605_606delGA (p.Arg202Thrfs) http://identifiers.org/clinvar/214287 ^@ NM_080916.2(DGUOK):c.658G>T (p.Glu220Ter) http://identifiers.org/clinvar/214278 ^@ NM_080916.2(DGUOK):c.697A>G (p.Lys233Glu) http://identifiers.org/clinvar/214279 ^@ NM_080916.2(DGUOK):c.708-3T>C http://identifiers.org/clinvar/214289 ^@ NM_080916.2(DGUOK):c.758A>G (p.Asn253Ser) http://identifiers.org/clinvar/214280 ^@ NM_080916.2(DGUOK):c.815C>A (p.Thr272Asn) http://identifiers.org/clinvar/214170 ^@ NM_212552.2(BOLA3):c.319C>T (p.Arg107Cys) http://identifiers.org/clinvar/214169 ^@ NM_212552.2(BOLA3):c.45G>T (p.Gly15=) http://identifiers.org/clinvar/215087 ^@ NM_022912.2(REEP1):c.*50G>A http://identifiers.org/clinvar/215086 ^@ NM_022912.2(REEP1):c.10T>G (p.Trp4Gly) http://identifiers.org/clinvar/215082 ^@ NM_022912.2(REEP1):c.-497G>T http://identifiers.org/clinvar/213994 ^@ NM_014049.4(ACAD9):c.11G>T (p.Cys4Phe) http://identifiers.org/clinvar/214013 ^@ NM_014049.4(ACAD9):c.91C>T (p.Arg31Cys) http://identifiers.org/clinvar/214010 ^@ NM_014049.4(ACAD9):c.152A>T (p.Lys51Ile) http://identifiers.org/clinvar/214012 ^@ NM_014049.4(ACAD9):c.217C>A (p.Pro73Thr) http://identifiers.org/clinvar/213995 ^@ NM_014049.4(ACAD9):c.442A>G (p.Ile148Val) http://identifiers.org/clinvar/213997 ^@ NM_014049.4(ACAD9):c.538C>T (p.Leu180Phe) http://identifiers.org/clinvar/213998 ^@ NM_014049.4(ACAD9):c.665T>C (p.Ile222Thr) http://identifiers.org/clinvar/213989 ^@ NM_014049.4(ACAD9):c.928G>A (p.Val310Ile) http://identifiers.org/clinvar/213990 ^@ NM_014049.4(ACAD9):c.931G>A (p.Val311Met) http://identifiers.org/clinvar/214000 ^@ NM_014049.4(ACAD9):c.1013A>C (p.Glu338Ala) http://identifiers.org/clinvar/214001 ^@ NM_014049.4(ACAD9):c.1022T>C (p.Leu341Ser) http://identifiers.org/clinvar/213991 ^@ NM_014049.4(ACAD9):c.1223G>C (p.Arg408Thr) http://identifiers.org/clinvar/214005 ^@ NM_014049.4(ACAD9):c.1309G>A (p.Ala437Thr) http://identifiers.org/clinvar/214007 ^@ NM_014049.4(ACAD9):c.1405C>T (p.Arg469Trp) http://identifiers.org/clinvar/214008 ^@ NM_014049.4(ACAD9):c.1414C>T (p.Arg472Trp) http://identifiers.org/clinvar/214009 ^@ NM_014049.4(ACAD9):c.1525G>A (p.Gly509Ser) http://identifiers.org/clinvar/213992 ^@ NM_014049.4(ACAD9):c.1666A>G (p.Ile556Val) http://identifiers.org/clinvar/213993 ^@ NM_014049.4(ACAD9):c.1667T>C (p.Ile556Thr) http://identifiers.org/clinvar/214006 ^@ NM_014049.4(ACAD9):c.1715G>A (p.Cys572Tyr) http://identifiers.org/clinvar/214678 ^@ NM_020191.2(MRPS22):c.173-15_173-14dupTA http://identifiers.org/clinvar/214686 ^@ NM_020191.2(MRPS22):c.502C>T (p.Arg168Trp) http://identifiers.org/clinvar/214682 ^@ NM_020191.2(MRPS22):c.503G>A (p.Arg168Gln) http://identifiers.org/clinvar/214683 ^@ NM_020191.2(MRPS22):c.617C>T (p.Thr206Ile) http://identifiers.org/clinvar/214687 ^@ NM_020191.2(MRPS22):c.664G>A (p.Asp222Asn) http://identifiers.org/clinvar/214685 ^@ NM_020191.2(MRPS22):c.768_769delTG (p.Gly257Lysfs) http://identifiers.org/clinvar/214681 ^@ NM_020191.2(MRPS22):c.938C>T (p.Ser313Leu) http://identifiers.org/clinvar/214491 ^@ NM_024996.5(GFM1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/214494 ^@ NM_024996.5(GFM1):c.16G>C (p.Ala6Pro) http://identifiers.org/clinvar/214482 ^@ NM_024996.5(GFM1):c.77A>G (p.Lys26Arg) http://identifiers.org/clinvar/214478 ^@ NM_024996.5(GFM1):c.235-14G>A http://identifiers.org/clinvar/214489 ^@ NM_024996.5(GFM1):c.238A>G (p.Lys80Glu) http://identifiers.org/clinvar/214496 ^@ NM_024996.5(GFM1):c.273delC (p.Met92Trpfs) http://identifiers.org/clinvar/214481 ^@ NM_024996.5(GFM1):c.368-18A>G http://identifiers.org/clinvar/214492 ^@ NM_024996.5(GFM1):c.622G>A (p.Glu208Lys) http://identifiers.org/clinvar/214493 ^@ NM_024996.5(GFM1):c.688G>A (p.Gly230Ser) http://identifiers.org/clinvar/214483 ^@ NM_024996.5(GFM1):c.690-5C>G http://identifiers.org/clinvar/214495 ^@ NM_024996.5(GFM1):c.700C>T (p.Arg234Ter) http://identifiers.org/clinvar/214485 ^@ NM_024996.5(GFM1):c.960A>C (p.Pro320=) http://identifiers.org/clinvar/214486 ^@ NM_024996.5(GFM1):c.1114C>T (p.Arg372Cys) http://identifiers.org/clinvar/214487 ^@ NM_024996.5(GFM1):c.1181G>A (p.Arg394Gln) http://identifiers.org/clinvar/214477 ^@ NM_024996.5(GFM1):c.1209C>T (p.Ala403=) http://identifiers.org/clinvar/214488 ^@ NM_024996.5(GFM1):c.1369C>T (p.Pro457Ser) http://identifiers.org/clinvar/214499 ^@ NM_024996.5(GFM1):c.1583C>T (p.Thr528Ile) http://identifiers.org/clinvar/214480 ^@ NM_024996.5(GFM1):c.1593C>T (p.Ala531=) http://identifiers.org/clinvar/214497 ^@ NM_024996.5(GFM1):c.1596delT (p.Val533Serfs) http://identifiers.org/clinvar/214500 ^@ NM_024996.5(GFM1):c.2011C>T (p.Arg671Cys) http://identifiers.org/clinvar/214490 ^@ NM_024996.5(GFM1):c.2165C>T (p.Pro722Leu) http://identifiers.org/clinvar/214498 ^@ NM_024996.5(GFM1):c.2232delT (p.Gly747Glufs) http://identifiers.org/clinvar/214300 ^@ NM_145261.3(DNAJC19):c.281G>T (p.Gly94Val) http://identifiers.org/clinvar/214297 ^@ NM_145261.3(DNAJC19):c.281-12T>C http://identifiers.org/clinvar/214299 ^@ NM_145261.3(DNAJC19):c.182G>A (p.Arg61Gln) http://identifiers.org/clinvar/214298 ^@ NM_145261.3(DNAJC19):c.181C>T (p.Arg61Trp) http://identifiers.org/clinvar/214887 ^@ NM_015560.2(OPA1):c.70A>G (p.Ile24Val) http://identifiers.org/clinvar/214888 ^@ NM_015560.2(OPA1):c.88C>T (p.Leu30=) http://identifiers.org/clinvar/214916 ^@ NM_015560.2(OPA1):c.113_130del18 (p.Arg38_Ser43del) http://identifiers.org/clinvar/214889 ^@ NM_015560.2(OPA1):c.205C>G (p.Pro69Ala) http://identifiers.org/clinvar/214921 ^@ NM_015560.2(OPA1):c.212G>A (p.Arg71His) http://identifiers.org/clinvar/214896 ^@ NM_015560.2(OPA1):c.516T>G (p.Ile172Met) http://identifiers.org/clinvar/214897 ^@ NM_015560.2(OPA1):c.530G>T (p.Ser177Ile) http://identifiers.org/clinvar/214917 ^@ NM_015560.2(OPA1):c.531_533delCTTinsATA (p.Ser177_Leu178delinsArgTer) http://identifiers.org/clinvar/214890 ^@ NM_015560.2(OPA1):c.565G>A (p.Glu189Lys) http://identifiers.org/clinvar/214918 ^@ NM_015560.2(OPA1):c.639_640delGA (p.Lys214Asnfs) http://identifiers.org/clinvar/214899 ^@ NM_015560.2(OPA1):c.687T>G (p.Tyr229Ter) http://identifiers.org/clinvar/214901 ^@ NM_015560.2(OPA1):c.871-1G>A http://identifiers.org/clinvar/214902 ^@ NM_015560.2(OPA1):c.880G>T (p.Val294Phe) http://identifiers.org/clinvar/214903 ^@ NM_015560.2(OPA1):c.961A>G (p.Met321Val) http://identifiers.org/clinvar/214922 ^@ NM_015560.2(OPA1):c.1028A>C (p.Asp343Ala) http://identifiers.org/clinvar/214891 ^@ NM_015560.2(OPA1):c.1137T>G (p.Pro379=) http://identifiers.org/clinvar/214905 ^@ NM_015560.2(OPA1):c.1187T>A (p.Leu396His) http://identifiers.org/clinvar/214907 ^@ NM_015560.2(OPA1):c.1208T>C (p.Ile403Thr) http://identifiers.org/clinvar/214908 ^@ NM_015560.2(OPA1):c.1212+5G>T http://identifiers.org/clinvar/214909 ^@ NM_015560.2(OPA1):c.1425T>A (p.Asn475Lys) http://identifiers.org/clinvar/214910 ^@ NM_015560.2(OPA1):c.1841A>T (p.Lys614Ile) http://identifiers.org/clinvar/214906 ^@ NM_015560.2(OPA1):c.1847+1G>C http://identifiers.org/clinvar/214911 ^@ NM_015560.2(OPA1):c.2341C>T (p.Arg781Trp) http://identifiers.org/clinvar/214892 ^@ NM_015560.2(OPA1):c.2471G>A (p.Arg824Gln) http://identifiers.org/clinvar/214919 ^@ NM_015560.2(OPA1):c.2496+4_2496+5delinsGTAAC http://identifiers.org/clinvar/214912 ^@ NM_015560.2(OPA1):c.2564T>G (p.Leu855Arg) http://identifiers.org/clinvar/214893 ^@ NM_015560.2(OPA1):c.2647A>G (p.Ile883Val) http://identifiers.org/clinvar/214913 ^@ NM_015560.2(OPA1):c.2675A>C (p.Asn892Thr) http://identifiers.org/clinvar/214914 ^@ NM_015560.2(OPA1):c.2720A>G (p.Glu907Gly) http://identifiers.org/clinvar/214915 ^@ NM_015560.2(OPA1):c.2737G>T (p.Val913Leu) http://identifiers.org/clinvar/214894 ^@ NM_015560.2(OPA1):c.2819-4A>G http://identifiers.org/clinvar/214895 ^@ NM_015560.2(OPA1):c.2862A>C (p.Glu954Asp) http://identifiers.org/clinvar/214747 ^@ NM_199069.1(NDUFAF3):c.193A>T (p.Ser65Cys) http://identifiers.org/clinvar/214748 ^@ NM_199069.1(NDUFAF3):c.275G>T (p.Gly92Val) http://identifiers.org/clinvar/214952 ^@ NM_000925.3(PDHB):c.937C>G (p.Pro313Ala) http://identifiers.org/clinvar/214951 ^@ NM_000925.3(PDHB):c.419T>A (p.Val140Glu) http://identifiers.org/clinvar/214950 ^@ NM_000925.3(PDHB):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/215171 ^@ NM_001151.3(SLC25A4):c.371G>A (p.Gly124Glu) http://identifiers.org/clinvar/215168 ^@ NM_001151.3(SLC25A4):c.490A>G (p.Ile164Val) http://identifiers.org/clinvar/215169 ^@ NM_001151.3(SLC25A4):c.499T>A (p.Ser167Thr) http://identifiers.org/clinvar/215174 ^@ NM_001151.3(SLC25A4):c.523delC (p.Gln175Argfs) http://identifiers.org/clinvar/215170 ^@ NM_001151.3(SLC25A4):c.567T>C (p.Ala189=) http://identifiers.org/clinvar/215173 ^@ NM_001151.3(SLC25A4):c.755C>T (p.Thr252Met) http://identifiers.org/clinvar/215172 ^@ NM_001151.3(SLC25A4):c.832G>A (p.Val278Met) http://identifiers.org/clinvar/215372 ^@ NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) http://identifiers.org/clinvar/215373 ^@ NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) http://identifiers.org/clinvar/215374 ^@ NM_006005.3(WFS1):c.169G>T (p.Ala57Ser) http://identifiers.org/clinvar/215375 ^@ NM_006005.3(WFS1):c.227G>T (p.Gly76Val) http://identifiers.org/clinvar/215410 ^@ NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) http://identifiers.org/clinvar/215376 ^@ NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) http://identifiers.org/clinvar/215353 ^@ NM_006005.3(WFS1):c.510C>G (p.Thr170=) http://identifiers.org/clinvar/215378 ^@ NM_006005.3(WFS1):c.631G>A (p.Asp211Asn) http://identifiers.org/clinvar/215379 ^@ NM_006005.3(WFS1):c.631+5G>A http://identifiers.org/clinvar/215380 ^@ NM_006005.3(WFS1):c.712+16G>A http://identifiers.org/clinvar/215381 ^@ NM_006005.3(WFS1):c.728C>T (p.Ala243Val) http://identifiers.org/clinvar/215382 ^@ NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) http://identifiers.org/clinvar/215405 ^@ NM_006005.3(WFS1):c.911_914dupTTGA (p.Met306Terfs) http://identifiers.org/clinvar/215354 ^@ NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) http://identifiers.org/clinvar/215377 ^@ NM_006005.3(WFS1):c.1106A>C (p.Lys369Thr) http://identifiers.org/clinvar/215355 ^@ NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn) http://identifiers.org/clinvar/215385 ^@ NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) http://identifiers.org/clinvar/215411 ^@ NM_006005.3(WFS1):c.1192G>C (p.Gly398Arg) http://identifiers.org/clinvar/215386 ^@ NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) http://identifiers.org/clinvar/215387 ^@ NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) http://identifiers.org/clinvar/215406 ^@ NM_006005.3(WFS1):c.1243_1245delGTC (p.Val415del) http://identifiers.org/clinvar/215356 ^@ NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) http://identifiers.org/clinvar/215388 ^@ NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) http://identifiers.org/clinvar/215357 ^@ NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) http://identifiers.org/clinvar/215412 ^@ NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) http://identifiers.org/clinvar/215358 ^@ NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) http://identifiers.org/clinvar/215390 ^@ NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) http://identifiers.org/clinvar/215391 ^@ NM_006005.3(WFS1):c.1633G>A (p.Val545Met) http://identifiers.org/clinvar/215359 ^@ NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) http://identifiers.org/clinvar/215360 ^@ NM_006005.3(WFS1):c.1676C>G (p.Ala559Gly) http://identifiers.org/clinvar/215392 ^@ NM_006005.3(WFS1):c.1684G>C (p.Gly562Arg) http://identifiers.org/clinvar/215361 ^@ NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) http://identifiers.org/clinvar/215362 ^@ NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) http://identifiers.org/clinvar/215363 ^@ NM_006005.3(WFS1):c.1801G>A (p.Val601Met) http://identifiers.org/clinvar/215407 ^@ NM_006005.3(WFS1):c.1831_1832delCGinsTA (p.Arg611Tyr) http://identifiers.org/clinvar/215364 ^@ NM_006005.3(WFS1):c.1930G>T (p.Val644Leu) http://identifiers.org/clinvar/215365 ^@ NM_006005.3(WFS1):c.1969A>G (p.Met657Val) http://identifiers.org/clinvar/215394 ^@ NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) http://identifiers.org/clinvar/215366 ^@ NM_006005.3(WFS1):c.2040G>A (p.Glu680=) http://identifiers.org/clinvar/215395 ^@ NM_006005.3(WFS1):c.2054G>A (p.Arg685His) http://identifiers.org/clinvar/215367 ^@ NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) http://identifiers.org/clinvar/215368 ^@ NM_006005.3(WFS1):c.2164A>G (p.Met722Val) http://identifiers.org/clinvar/215396 ^@ NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) http://identifiers.org/clinvar/215397 ^@ NM_006005.3(WFS1):c.2195G>A (p.Arg732His) http://identifiers.org/clinvar/215369 ^@ NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) http://identifiers.org/clinvar/215399 ^@ NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter) http://identifiers.org/clinvar/215370 ^@ NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) http://identifiers.org/clinvar/215400 ^@ NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) http://identifiers.org/clinvar/215413 ^@ NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) http://identifiers.org/clinvar/215414 ^@ NM_006005.3(WFS1):c.2453G>A (p.Arg818His) http://identifiers.org/clinvar/215403 ^@ NM_006005.3(WFS1):c.2603G>A (p.Arg868His) http://identifiers.org/clinvar/215409 ^@ NM_006005.3(WFS1):c.2643_2644delCT (p.Phe883Leufs) http://identifiers.org/clinvar/215404 ^@ NM_006005.3(WFS1):c.2651T>A (p.Phe884Tyr) http://identifiers.org/clinvar/215415 ^@ NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) http://identifiers.org/clinvar/214218 ^@ NM_015697.7(COQ2):c.1250A>G (p.Asn417Ser) http://identifiers.org/clinvar/214217 ^@ NM_015697.7(COQ2):c.1178T>C (p.Val393Ala) http://identifiers.org/clinvar/214224 ^@ NM_015697.7(COQ2):c.950C>T (p.Thr317Met) http://identifiers.org/clinvar/214226 ^@ NM_015697.7(COQ2):c.467T>C (p.Phe156Ser) http://identifiers.org/clinvar/214228 ^@ NM_015697.7(COQ2):c.377G>A (p.Arg126His) http://identifiers.org/clinvar/214223 ^@ NM_015697.7(COQ2):c.287C>T (p.Pro96Leu) http://identifiers.org/clinvar/214229 ^@ NM_015697.7(COQ2):c.282delG (p.Gln94Hisfs) http://identifiers.org/clinvar/214222 ^@ NM_015697.7(COQ2):c.235T>C (p.Phe79Leu) http://identifiers.org/clinvar/214227 ^@ NM_015697.7(COQ2):c.184G>C (p.Gly62Arg) http://identifiers.org/clinvar/214220 ^@ NM_015697.7(COQ2):c.128C>G (p.Ala43Gly) http://identifiers.org/clinvar/215350 ^@ NM_014402.4(UQCRQ):c.95C>T (p.Thr32Ile) http://identifiers.org/clinvar/215351 ^@ NM_014402.4(UQCRQ):c.181A>C (p.Thr61Pro) http://identifiers.org/clinvar/215352 ^@ NM_014402.4(UQCRQ):c.241G>C (p.Asp81His) http://identifiers.org/clinvar/214710 ^@ NM_002488.4(NDUFA2):c.280G>A (p.Val94Ile) http://identifiers.org/clinvar/214712 ^@ NM_002488.4(NDUFA2):c.225delG (p.Asn76Metfs) http://identifiers.org/clinvar/214538 ^@ NM_012208.3(HARS2):c.151G>A (p.Glu51Lys) http://identifiers.org/clinvar/214536 ^@ NM_012208.3(HARS2):c.152A>G (p.Glu51Gly) http://identifiers.org/clinvar/214542 ^@ NM_012208.3(HARS2):c.172A>G (p.Lys58Glu) http://identifiers.org/clinvar/214543 ^@ NM_012208.3(HARS2):c.448C>T (p.Arg150Cys) http://identifiers.org/clinvar/214544 ^@ NM_012208.3(HARS2):c.633+1G>A http://identifiers.org/clinvar/214546 ^@ NM_012208.3(HARS2):c.697C>T (p.Arg233Cys) http://identifiers.org/clinvar/214539 ^@ NM_012208.3(HARS2):c.698G>A (p.Arg233His) http://identifiers.org/clinvar/214540 ^@ NM_012208.3(HARS2):c.868C>T (p.Leu290=) http://identifiers.org/clinvar/214541 ^@ NM_012208.3(HARS2):c.932C>A (p.Thr311Asn) http://identifiers.org/clinvar/214545 ^@ NM_012208.3(HARS2):c.956T>C (p.Ile319Thr) http://identifiers.org/clinvar/214547 ^@ NM_012208.3(HARS2):c.1105G>C (p.Gly369Arg) http://identifiers.org/clinvar/214548 ^@ NM_012208.3(HARS2):c.1512dupT (p.Glu505Terfs) http://identifiers.org/clinvar/214570 ^@ NM_020117.10(LARS):c.3336A>G (p.Lys1112=) http://identifiers.org/clinvar/214569 ^@ NM_020117.10(LARS):c.3193-18T>G http://identifiers.org/clinvar/214568 ^@ NM_020117.10(LARS):c.3077A>G (p.Tyr1026Cys) http://identifiers.org/clinvar/214567 ^@ NM_020117.10(LARS):c.2915T>C (p.Ile972Thr) http://identifiers.org/clinvar/214566 ^@ NM_020117.10(LARS):c.2885A>G (p.Asn962Ser) http://identifiers.org/clinvar/214564 ^@ NM_020117.10(LARS):c.2769+14G>T http://identifiers.org/clinvar/214563 ^@ NM_020117.10(LARS):c.2666G>A (p.Gly889Asp) http://identifiers.org/clinvar/214562 ^@ NM_020117.10(LARS):c.2629-13_2629-8delCTTTTT http://identifiers.org/clinvar/214576 ^@ NM_020117.10(LARS):c.2539C>G (p.Leu847Val) http://identifiers.org/clinvar/214575 ^@ NM_020117.10(LARS):c.2515G>A (p.Ala839Thr) http://identifiers.org/clinvar/214573 ^@ NM_020117.10(LARS):c.2487+5G>A http://identifiers.org/clinvar/214560 ^@ NM_020117.10(LARS):c.2014G>A (p.Val672Ile) http://identifiers.org/clinvar/214559 ^@ NM_020117.10(LARS):c.1545G>A (p.Met515Ile) http://identifiers.org/clinvar/214558 ^@ NM_020117.10(LARS):c.1504-4T>G http://identifiers.org/clinvar/214572 ^@ NM_020117.10(LARS):c.1500C>T (p.Asp500=) http://identifiers.org/clinvar/214557 ^@ NM_020117.10(LARS):c.433-12C>T http://identifiers.org/clinvar/214578 ^@ NM_020117.10(LARS):c.137_141delATTTT (p.Tyr46Cysfs) http://identifiers.org/clinvar/214565 ^@ NM_020117.10(LARS):c.109T>G (p.Leu37Val) http://identifiers.org/clinvar/214579 ^@ NM_020117.10(LARS):c.84_85delAG (p.Arg28Serfs) http://identifiers.org/clinvar/214819 ^@ NM_004553.4(NDUFS6):c.229G>A (p.Val77Met) http://identifiers.org/clinvar/214820 ^@ NM_004553.4(NDUFS6):c.247C>T (p.Arg83Trp) http://identifiers.org/clinvar/214821 ^@ NM_004553.4(NDUFS6):c.257C>T (p.Ala86Val) http://identifiers.org/clinvar/214823 ^@ NM_004553.4(NDUFS6):c.262G>A (p.Asp88Asn) http://identifiers.org/clinvar/214824 ^@ NM_004553.4(NDUFS6):c.305A>T (p.Asn102Ile) http://identifiers.org/clinvar/214809 ^@ NM_002495.3(NDUFS4):c.-6A>T http://identifiers.org/clinvar/214810 ^@ NM_002495.3(NDUFS4):c.10G>C (p.Val4Leu) http://identifiers.org/clinvar/214817 ^@ NM_002495.3(NDUFS4):c.13T>C (p.Ser5Pro) http://identifiers.org/clinvar/214815 ^@ NM_002495.3(NDUFS4):c.251G>A (p.Arg84His) http://identifiers.org/clinvar/214811 ^@ NM_002495.3(NDUFS4):c.376C>T (p.Leu126=) http://identifiers.org/clinvar/214812 ^@ NM_002495.3(NDUFS4):c.389C>G (p.Thr130Ser) http://identifiers.org/clinvar/214813 ^@ NM_002495.3(NDUFS4):c.406T>G (p.Ser136Ala) http://identifiers.org/clinvar/214816 ^@ NM_002495.3(NDUFS4):c.444_446dupAGA (p.Glu149_Arg150insGlu) http://identifiers.org/clinvar/214739 ^@ NM_174889.4(NDUFAF2):c.80A>T (p.Gln27Leu) http://identifiers.org/clinvar/214740 ^@ NM_174889.4(NDUFAF2):c.131A>C (p.Gln44Pro) http://identifiers.org/clinvar/214741 ^@ NM_174889.4(NDUFAF2):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/214744 ^@ NM_174889.4(NDUFAF2):c.167A>G (p.Asn56Ser) http://identifiers.org/clinvar/214737 ^@ NM_174889.4(NDUFAF2):c.300A>T (p.Ile100=) http://identifiers.org/clinvar/214743 ^@ NM_174889.4(NDUFAF2):c.383_387delAAATT (p.Ile129Argfs) http://identifiers.org/clinvar/214738 ^@ NM_174889.4(NDUFAF2):c.485G>A (p.Arg162Gln) http://identifiers.org/clinvar/214506 ^@ NM_032380.4(GFM2):c.2020G>A (p.Val674Met) http://identifiers.org/clinvar/214516 ^@ NM_032380.4(GFM2):c.1984T>A (p.Ser662Thr) http://identifiers.org/clinvar/214505 ^@ NM_032380.4(GFM2):c.1880T>C (p.Ile627Thr) http://identifiers.org/clinvar/214504 ^@ NM_032380.4(GFM2):c.1826_1831delTTGAGT (p.Phe609_Glu610del) http://identifiers.org/clinvar/214515 ^@ NM_032380.4(GFM2):c.1523C>T (p.Ala508Val) http://identifiers.org/clinvar/214503 ^@ NM_032380.4(GFM2):c.1424C>T (p.Ala475Val) http://identifiers.org/clinvar/214514 ^@ NM_032380.4(GFM2):c.1387C>T (p.Arg463Trp) http://identifiers.org/clinvar/214519 ^@ NM_032380.4(GFM2):c.1376G>A (p.Arg459His) http://identifiers.org/clinvar/214513 ^@ NM_032380.4(GFM2):c.1229T>A (p.Ile410Lys) http://identifiers.org/clinvar/214512 ^@ NM_032380.4(GFM2):c.1147C>G (p.Leu383Val) http://identifiers.org/clinvar/214511 ^@ NM_032380.4(GFM2):c.1102T>C (p.Cys368Arg) http://identifiers.org/clinvar/214502 ^@ NM_032380.4(GFM2):c.1070A>G (p.Tyr357Cys) http://identifiers.org/clinvar/214510 ^@ NM_032380.4(GFM2):c.1040T>C (p.Met347Thr) http://identifiers.org/clinvar/214518 ^@ NM_032380.4(GFM2):c.1001A>G (p.Lys334Arg) http://identifiers.org/clinvar/214509 ^@ NM_032380.4(GFM2):c.569G>A (p.Arg190Gln) http://identifiers.org/clinvar/214508 ^@ NM_032380.4(GFM2):c.542G>A (p.Arg181Lys) http://identifiers.org/clinvar/214501 ^@ NM_032380.4(GFM2):c.390T>G (p.Phe130Leu) http://identifiers.org/clinvar/214520 ^@ NM_032380.4(GFM2):c.277T>C (p.Tyr93His) http://identifiers.org/clinvar/214521 ^@ NM_032380.4(GFM2):c.64-16_64-3delTTTTTCTCTTTACT http://identifiers.org/clinvar/214989 ^@ NM_020381.3(PDSS2):c.1046G>A (p.Arg349Gln) http://identifiers.org/clinvar/214994 ^@ NM_020381.3(PDSS2):c.877-2A>G http://identifiers.org/clinvar/214995 ^@ NM_020381.3(PDSS2):c.874A>G (p.Lys292Glu) http://identifiers.org/clinvar/214988 ^@ NM_020381.3(PDSS2):c.700A>G (p.Lys234Glu) http://identifiers.org/clinvar/214987 ^@ NM_020381.3(PDSS2):c.667G>A (p.Val223Ile) http://identifiers.org/clinvar/214993 ^@ NM_020381.3(PDSS2):c.536A>C (p.Lys179Thr) http://identifiers.org/clinvar/214992 ^@ NM_020381.3(PDSS2):c.368C>T (p.Ala123Val) http://identifiers.org/clinvar/214991 ^@ NM_020381.3(PDSS2):c.275A>C (p.His92Pro) http://identifiers.org/clinvar/214990 ^@ NM_020381.3(PDSS2):c.79C>T (p.Pro27Ser) http://identifiers.org/clinvar/215138 ^@ NM_032861.3(SERAC1):c.*16A>G http://identifiers.org/clinvar/215146 ^@ NM_032861.3(SERAC1):c.1916G>C (p.Arg639Pro) http://identifiers.org/clinvar/215148 ^@ NM_032861.3(SERAC1):c.1628_1629dupCT (p.Val544Leufs) http://identifiers.org/clinvar/215143 ^@ NM_032861.3(SERAC1):c.1535C>T (p.Ser512Phe) http://identifiers.org/clinvar/215147 ^@ NM_032861.3(SERAC1):c.1501+3_1501+6delAAGT http://identifiers.org/clinvar/215137 ^@ NM_032861.3(SERAC1):c.1483A>C (p.Ile495Leu) http://identifiers.org/clinvar/215144 ^@ NM_032861.3(SERAC1):c.1347_1350dupATCT (p.Val451Ilefs) http://identifiers.org/clinvar/215142 ^@ NM_032861.3(SERAC1):c.1126C>T (p.Gln376Ter) http://identifiers.org/clinvar/215140 ^@ NM_032861.3(SERAC1):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/215150 ^@ NM_032861.3(SERAC1):c.391T>C (p.Cys131Arg) http://identifiers.org/clinvar/215136 ^@ NM_032861.3(SERAC1):c.259A>T (p.Asn87Tyr) http://identifiers.org/clinvar/215149 ^@ NM_032861.3(SERAC1):c.62C>T (p.Pro21Leu) http://identifiers.org/clinvar/215139 ^@ NM_032861.3(SERAC1):c.21C>G (p.Cys7Trp) http://identifiers.org/clinvar/214658 ^@ NM_016098.3(MPC1):c.317C>T (p.Thr106Met) http://identifiers.org/clinvar/213961 ^@ NM_020745.3(AARS2):c.2861C>T (p.Ala954Val) http://identifiers.org/clinvar/213972 ^@ NM_020745.3(AARS2):c.2812A>C (p.Thr938Pro) http://identifiers.org/clinvar/213960 ^@ NM_020745.3(AARS2):c.2681C>A (p.Ser894Ter) http://identifiers.org/clinvar/213959 ^@ NM_020745.3(AARS2):c.2551C>G (p.Leu851Val) http://identifiers.org/clinvar/213947 ^@ NM_020745.3(AARS2):c.2353C>G (p.Gln785Glu) http://identifiers.org/clinvar/213958 ^@ NM_020745.3(AARS2):c.2207C>T (p.Pro736Leu) http://identifiers.org/clinvar/213971 ^@ NM_020745.3(AARS2):c.2162T>C (p.Val721Ala) http://identifiers.org/clinvar/213957 ^@ NM_020745.3(AARS2):c.1832G>A (p.Arg611Gln) http://identifiers.org/clinvar/213955 ^@ NM_020745.3(AARS2):c.1621G>A (p.Glu541Lys) http://identifiers.org/clinvar/213954 ^@ NM_020745.3(AARS2):c.1445G>A (p.Arg482Gln) http://identifiers.org/clinvar/213967 ^@ NM_020745.3(AARS2):c.1408G>C (p.Glu470Gln) http://identifiers.org/clinvar/213975 ^@ NM_020745.3(AARS2):c.1262G>T (p.Arg421Leu) http://identifiers.org/clinvar/213953 ^@ NM_020745.3(AARS2):c.1192G>A (p.Ala398Thr) http://identifiers.org/clinvar/213968 ^@ NM_020745.3(AARS2):c.1162C>T (p.Pro388Ser) http://identifiers.org/clinvar/213965 ^@ NM_020745.3(AARS2):c.1052G>A (p.Arg351His) http://identifiers.org/clinvar/213970 ^@ NM_020745.3(AARS2):c.1008dupT (p.Asp337Terfs) http://identifiers.org/clinvar/213964 ^@ NM_020745.3(AARS2):c.946C>T (p.Arg316Cys) http://identifiers.org/clinvar/213950 ^@ NM_020745.3(AARS2):c.882C>T (p.Asn294=) http://identifiers.org/clinvar/213949 ^@ NM_020745.3(AARS2):c.749+14G>A http://identifiers.org/clinvar/213963 ^@ NM_020745.3(AARS2):c.595C>T (p.Arg199Cys) http://identifiers.org/clinvar/213962 ^@ NM_020745.3(AARS2):c.407A>G (p.Asn136Ser) http://identifiers.org/clinvar/213948 ^@ NM_020745.3(AARS2):c.268G>C (p.Val90Leu) http://identifiers.org/clinvar/213952 ^@ NM_020745.3(AARS2):c.31_39delAGGCTGCGG (p.Leu12_Arg14del) http://identifiers.org/clinvar/213951 ^@ NM_020745.3(AARS2):c.10T>A (p.Ser4Thr) http://identifiers.org/clinvar/214327 ^@ NM_006567.4(FARS2):c.170C>G (p.Ser57Cys) http://identifiers.org/clinvar/214328 ^@ NM_006567.4(FARS2):c.496G>A (p.Ala166Thr) http://identifiers.org/clinvar/214338 ^@ NM_006567.4(FARS2):c.506A>T (p.Asp169Val) http://identifiers.org/clinvar/214340 ^@ NM_006567.4(FARS2):c.550G>A (p.Asp184Asn) http://identifiers.org/clinvar/214330 ^@ NM_006567.4(FARS2):c.667C>T (p.Arg223Cys) http://identifiers.org/clinvar/214341 ^@ NM_006567.4(FARS2):c.899A>G (p.Asn300Ser) http://identifiers.org/clinvar/214333 ^@ NM_006567.4(FARS2):c.971A>G (p.Tyr324Cys) http://identifiers.org/clinvar/214334 ^@ NM_006567.4(FARS2):c.989G>A (p.Arg330His) http://identifiers.org/clinvar/214335 ^@ NM_006567.4(FARS2):c.1082C>T (p.Pro361Leu) http://identifiers.org/clinvar/214331 ^@ NM_006567.4(FARS2):c.1220C>T (p.Thr407Met) http://identifiers.org/clinvar/214336 ^@ NM_006567.4(FARS2):c.1255C>T (p.Arg419Cys) http://identifiers.org/clinvar/214337 ^@ NM_006567.4(FARS2):c.1268G>A (p.Arg423Gln) http://identifiers.org/clinvar/215077 ^@ NM_020320.4(RARS2):c.1724dupT (p.Cys576Metfs) http://identifiers.org/clinvar/215071 ^@ NM_020320.4(RARS2):c.1679G>A (p.Arg560His) http://identifiers.org/clinvar/215054 ^@ NM_020320.4(RARS2):c.1637C>T (p.Pro546Leu) http://identifiers.org/clinvar/215076 ^@ NM_020320.4(RARS2):c.1582_1583dupTT (p.Leu528Phefs) http://identifiers.org/clinvar/215069 ^@ NM_020320.4(RARS2):c.1439G>A (p.Gly480Glu) http://identifiers.org/clinvar/215068 ^@ NM_020320.4(RARS2):c.1366C>T (p.Arg456Cys) http://identifiers.org/clinvar/215067 ^@ NM_020320.4(RARS2):c.1334A>G (p.Tyr445Cys) http://identifiers.org/clinvar/215053 ^@ NM_020320.4(RARS2):c.1221C>A (p.Asn407Lys) http://identifiers.org/clinvar/215066 ^@ NM_020320.4(RARS2):c.1211T>A (p.Met404Lys) http://identifiers.org/clinvar/215065 ^@ NM_020320.4(RARS2):c.1086G>T (p.Lys362Asn) http://identifiers.org/clinvar/215064 ^@ NM_020320.4(RARS2):c.1026G>A (p.Met342Ile) http://identifiers.org/clinvar/215063 ^@ NM_020320.4(RARS2):c.970A>G (p.Thr324Ala) http://identifiers.org/clinvar/215062 ^@ NM_020320.4(RARS2):c.953G>A (p.Gly318Glu) http://identifiers.org/clinvar/215061 ^@ NM_020320.4(RARS2):c.943C>T (p.Arg315Ter) http://identifiers.org/clinvar/215060 ^@ NM_020320.4(RARS2):c.916G>A (p.Asp306Asn) http://identifiers.org/clinvar/215075 ^@ NM_020320.4(RARS2):c.898dupG (p.Asp300Glyfs) http://identifiers.org/clinvar/215059 ^@ NM_020320.4(RARS2):c.818G>T (p.Arg273Leu) http://identifiers.org/clinvar/215058 ^@ NM_020320.4(RARS2):c.818G>C (p.Arg273Pro) http://identifiers.org/clinvar/215079 ^@ NM_020320.4(RARS2):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/215074 ^@ NM_020320.4(RARS2):c.772-4_772-3delTT http://identifiers.org/clinvar/215073 ^@ NM_020320.4(RARS2):c.772-3delT http://identifiers.org/clinvar/215057 ^@ NM_020320.4(RARS2):c.757A>G (p.Ile253Val) http://identifiers.org/clinvar/215052 ^@ NM_020320.4(RARS2):c.641C>T (p.Ala214Val) http://identifiers.org/clinvar/215072 ^@ NM_020320.4(RARS2):c.472_474delAAA (p.Lys158del) http://identifiers.org/clinvar/215055 ^@ NM_020320.4(RARS2):c.419T>G (p.Phe140Cys) http://identifiers.org/clinvar/215051 ^@ NM_020320.4(RARS2):c.196A>G (p.Lys66Glu) http://identifiers.org/clinvar/215049 ^@ NM_020320.4(RARS2):c.155A>G (p.Lys52Arg) http://identifiers.org/clinvar/215078 ^@ NM_020320.4(RARS2):c.152A>G (p.Glu51Gly) http://identifiers.org/clinvar/215056 ^@ NM_020320.4(RARS2):c.19C>T (p.Arg7Cys) http://identifiers.org/clinvar/214750 ^@ NM_014165.3(NDUFAF4):c.238C>A (p.Gln80Lys) http://identifiers.org/clinvar/214752 ^@ NM_014165.3(NDUFAF4):c.70A>G (p.Lys24Glu) http://identifiers.org/clinvar/214751 ^@ NM_014165.3(NDUFAF4):c.20_21delGCinsTT (p.Arg7Leu) http://identifiers.org/clinvar/214076 ^@ NM_018238.3(AGK):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/214064 ^@ NM_018238.3(AGK):c.17A>G (p.Lys6Arg) http://identifiers.org/clinvar/214077 ^@ NM_018238.3(AGK):c.29A>G (p.Asn10Ser) http://identifiers.org/clinvar/214073 ^@ NM_018238.3(AGK):c.108C>A (p.Asn36Lys) http://identifiers.org/clinvar/214074 ^@ NM_018238.3(AGK):c.186G>T (p.Lys62Asn) http://identifiers.org/clinvar/214065 ^@ NM_018238.3(AGK):c.424-10dupC http://identifiers.org/clinvar/214066 ^@ NM_018238.3(AGK):c.518+18G>A http://identifiers.org/clinvar/214067 ^@ NM_018238.3(AGK):c.727-9C>T http://identifiers.org/clinvar/214069 ^@ NM_018238.3(AGK):c.851C>T (p.Ala284Val) http://identifiers.org/clinvar/214070 ^@ NM_018238.3(AGK):c.863C>T (p.Ala288Val) http://identifiers.org/clinvar/214071 ^@ NM_018238.3(AGK):c.881T>C (p.Leu294Pro) http://identifiers.org/clinvar/214072 ^@ NM_018238.3(AGK):c.1048A>G (p.Ser350Gly) http://identifiers.org/clinvar/214063 ^@ NM_018238.3(AGK):c.1052G>C (p.Arg351Pro) http://identifiers.org/clinvar/214079 ^@ NM_018238.3(AGK):c.1088C>T (p.Thr363Met) http://identifiers.org/clinvar/215275 ^@ NM_022445.3(TPK1):c.501+4A>T http://identifiers.org/clinvar/215272 ^@ NM_022445.3(TPK1):c.366C>T (p.Ile122=) http://identifiers.org/clinvar/215277 ^@ NM_022445.3(TPK1):c.311delG (p.Cys104Serfs) http://identifiers.org/clinvar/215274 ^@ NM_022445.3(TPK1):c.185+1G>A http://identifiers.org/clinvar/215276 ^@ NM_022445.3(TPK1):c.44-2A>G http://identifiers.org/clinvar/215273 ^@ NM_022445.3(TPK1):c.-36T>C http://identifiers.org/clinvar/215094 ^@ NM_015713.4(RRM2B):c.662A>G (p.Asn221Ser) http://identifiers.org/clinvar/215092 ^@ NM_015713.4(RRM2B):c.599G>A (p.Gly200Glu) http://identifiers.org/clinvar/215098 ^@ NM_015713.4(RRM2B):c.551-11_551-10delAT http://identifiers.org/clinvar/215088 ^@ NM_015713.4(RRM2B):c.544A>G (p.Thr182Ala) http://identifiers.org/clinvar/215091 ^@ NM_015713.4(RRM2B):c.520C>T (p.Arg174Ter) http://identifiers.org/clinvar/215089 ^@ NM_015713.4(RRM2B):c.475A>G (p.Ile159Val) http://identifiers.org/clinvar/215100 ^@ NM_015713.4(RRM2B):c.208G>T (p.Asp70Tyr) http://identifiers.org/clinvar/215099 ^@ NM_015713.4(RRM2B):c.205-2A>G http://identifiers.org/clinvar/215096 ^@ NM_015713.4(RRM2B):c.143A>G (p.Gln48Arg) http://identifiers.org/clinvar/215095 ^@ NM_015713.4(RRM2B):c.118C>T (p.Arg40Cys) http://identifiers.org/clinvar/215097 ^@ NM_001172477.1(RRM2B):c.184delG (p.Glu62Serfs) http://identifiers.org/clinvar/214764 ^@ NM_005005.2(NDUFB9):c.23C>T (p.Pro8Leu) http://identifiers.org/clinvar/214763 ^@ NM_005005.2(NDUFB9):c.201C>T (p.Ala67=) http://identifiers.org/clinvar/214765 ^@ NM_005005.2(NDUFB9):c.472C>G (p.Arg158Gly) http://identifiers.org/clinvar/214973 ^@ NM_018444.3(PDP1):c.-45+732_-45+733insGCCGCCGCCTCCTC http://identifiers.org/clinvar/214210 ^@ NM_152416.3(NDUFAF6):c.83G>C (p.Gly28Ala) http://identifiers.org/clinvar/214211 ^@ NM_152416.3(NDUFAF6):c.139G>A (p.Ala47Thr) http://identifiers.org/clinvar/214215 ^@ NM_152416.3(NDUFAF6):c.233_242dupTGCTCCCTGC (p.Glu82Alafs) http://identifiers.org/clinvar/214213 ^@ NM_152416.3(NDUFAF6):c.307_308delTC (p.Val104Leufs) http://identifiers.org/clinvar/214212 ^@ NM_152416.3(NDUFAF6):c.371T>C (p.Ile124Thr) http://identifiers.org/clinvar/214214 ^@ NM_152416.3(NDUFAF6):c.420+2dupT http://identifiers.org/clinvar/214205 ^@ NM_152416.3(NDUFAF6):c.421-15delC http://identifiers.org/clinvar/214206 ^@ NM_152416.3(NDUFAF6):c.421-14delT http://identifiers.org/clinvar/214216 ^@ NM_152416.3(NDUFAF6):c.808C>G (p.Leu270Val) http://identifiers.org/clinvar/214207 ^@ NM_152416.3(NDUFAF6):c.816+18dupT http://identifiers.org/clinvar/214208 ^@ NM_152416.3(NDUFAF6):c.896A>C (p.Lys299Thr) http://identifiers.org/clinvar/214209 ^@ NM_152416.3(NDUFAF6):c.992A>G (p.Lys331Arg) http://identifiers.org/clinvar/215347 ^@ NM_006294.4(UQCRB):c.324G>T (p.Trp108Cys) http://identifiers.org/clinvar/215348 ^@ NM_006294.4(UQCRB):c.274delG (p.Glu92Asnfs) http://identifiers.org/clinvar/215346 ^@ NM_006294.4(UQCRB):c.56A>T (p.Lys19Ile) http://identifiers.org/clinvar/215230 ^@ NM_003172.3(SURF1):c.55-46_55-26del http://identifiers.org/clinvar/215227 ^@ NM_003172.3(SURF1):c.889A>C (p.Thr297Pro) http://identifiers.org/clinvar/215239 ^@ NM_003172.3(SURF1):c.813_818dupTCTGCA (p.Leu272_Gln273insHisLeu) http://identifiers.org/clinvar/215238 ^@ NM_003172.3(SURF1):c.792_793delAG (p.Arg264Serfs) http://identifiers.org/clinvar/215226 ^@ NM_003172.3(SURF1):c.745A>G (p.Asn249Asp) http://identifiers.org/clinvar/215236 ^@ NM_003172.3(SURF1):c.589-1G>T http://identifiers.org/clinvar/215235 ^@ NM_003172.3(SURF1):c.574C>T (p.Arg192Trp) http://identifiers.org/clinvar/215234 ^@ NM_003172.3(SURF1):c.563A>G (p.Asn188Ser) http://identifiers.org/clinvar/215225 ^@ NM_003172.3(SURF1):c.543C>T (p.Phe181=) http://identifiers.org/clinvar/215233 ^@ NM_003172.3(SURF1):c.409C>T (p.Arg137Trp) http://identifiers.org/clinvar/215243 ^@ NM_003172.3(SURF1):c.380_382delACCinsCCT (p.Asp127_His128delinsAlaTyr) http://identifiers.org/clinvar/215232 ^@ NM_003172.3(SURF1):c.324-11T>G http://identifiers.org/clinvar/215231 ^@ NM_003172.3(SURF1):c.322G>A (p.Asp108Asn) http://identifiers.org/clinvar/215237 ^@ NM_003172.3(SURF1):c.312_321delTCTGCCAGCCinsAT (p.Leu105Terfs) http://identifiers.org/clinvar/215229 ^@ NM_003172.3(SURF1):c.40G>A (p.Ala14Thr) http://identifiers.org/clinvar/215228 ^@ NM_003172.3(SURF1):c.17C>T (p.Ala6Val) http://identifiers.org/clinvar/215241 ^@ NM_003172.3(SURF1):c.-11_13del24 http://identifiers.org/clinvar/214127 ^@ NM_175073.2(APTX):c.814T>C (p.Cys272Arg) http://identifiers.org/clinvar/214123 ^@ NM_175073.2(APTX):c.771-12dupT http://identifiers.org/clinvar/214122 ^@ NM_175073.2(APTX):c.742T>A (p.Leu248Met) http://identifiers.org/clinvar/214121 ^@ NM_175073.2(APTX):c.734G>A (p.Arg245His) http://identifiers.org/clinvar/214128 ^@ NM_175073.2(APTX):c.667C>T (p.Leu223Phe) http://identifiers.org/clinvar/214119 ^@ NM_175073.2(APTX):c.337A>G (p.Arg113Gly) http://identifiers.org/clinvar/214126 ^@ NM_175073.2(APTX):c.18G>T (p.Trp6Cys) http://identifiers.org/clinvar/214124 ^@ NM_175073.2(APTX):c.-15A>T http://identifiers.org/clinvar/214125 ^@ NM_175073.2(APTX):c.-194C>G http://identifiers.org/clinvar/214107 ^@ NM_000692.4(ALDH1B1):c.281G>A (p.Arg94His) http://identifiers.org/clinvar/214108 ^@ NM_000692.4(ALDH1B1):c.283C>T (p.Arg95Trp) http://identifiers.org/clinvar/214109 ^@ NM_000692.4(ALDH1B1):c.398A>G (p.Glu133Gly) http://identifiers.org/clinvar/214110 ^@ NM_000692.4(ALDH1B1):c.571A>G (p.Met191Val) http://identifiers.org/clinvar/214111 ^@ NM_000692.4(ALDH1B1):c.643C>T (p.Pro215Ser) http://identifiers.org/clinvar/214112 ^@ NM_000692.4(ALDH1B1):c.646C>G (p.Leu216Val) http://identifiers.org/clinvar/214113 ^@ NM_000692.4(ALDH1B1):c.764T>C (p.Val255Ala) http://identifiers.org/clinvar/214105 ^@ NM_000692.4(ALDH1B1):c.783C>T (p.Thr261=) http://identifiers.org/clinvar/214114 ^@ NM_000692.4(ALDH1B1):c.1043T>C (p.Val348Ala) http://identifiers.org/clinvar/214116 ^@ NM_000692.4(ALDH1B1):c.1144G>A (p.Ala382Thr) http://identifiers.org/clinvar/214106 ^@ NM_000692.4(ALDH1B1):c.1161delC (p.Gly388Glufs) http://identifiers.org/clinvar/214117 ^@ NM_000692.4(ALDH1B1):c.1409T>C (p.Val470Ala) http://identifiers.org/clinvar/214118 ^@ NM_000692.4(ALDH1B1):c.1415C>T (p.Thr472Ile) http://identifiers.org/clinvar/214150 ^@ NM_001698.2(AUH):c.866C>A (p.Ala289Glu) http://identifiers.org/clinvar/214149 ^@ NM_001698.2(AUH):c.824C>T (p.Ala275Val) http://identifiers.org/clinvar/214140 ^@ NM_001698.2(AUH):c.798G>A (p.Ala266=) http://identifiers.org/clinvar/214148 ^@ NM_001698.2(AUH):c.791G>A (p.Gly264Glu) http://identifiers.org/clinvar/214147 ^@ NM_001698.2(AUH):c.742G>A (p.Ala248Thr) http://identifiers.org/clinvar/214146 ^@ NM_001698.2(AUH):c.730G>A (p.Asp244Asn) http://identifiers.org/clinvar/214145 ^@ NM_001698.2(AUH):c.676C>T (p.Arg226Cys) http://identifiers.org/clinvar/214142 ^@ NM_001698.2(AUH):c.598+10A>C http://identifiers.org/clinvar/214151 ^@ NM_001698.2(AUH):c.535A>G (p.Ile179Val) http://identifiers.org/clinvar/214153 ^@ NM_001698.2(AUH):c.381A>G (p.Ile127Met) http://identifiers.org/clinvar/214152 ^@ NM_001698.2(AUH):c.374G>A (p.Arg125Gln) http://identifiers.org/clinvar/214144 ^@ NM_001698.2(AUH):c.182C>A (p.Pro61His) http://identifiers.org/clinvar/214143 ^@ NM_001698.2(AUH):c.170C>T (p.Ala57Val) http://identifiers.org/clinvar/214154 ^@ NM_001698.2(AUH):c.148T>A (p.Trp50Arg) http://identifiers.org/clinvar/214141 ^@ NM_001698.2(AUH):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/214361 ^@ NM_000507.3(FBP1):c.976C>G (p.Leu326Val) http://identifiers.org/clinvar/214368 ^@ NM_000507.3(FBP1):c.970G>A (p.Asp324Asn) http://identifiers.org/clinvar/214360 ^@ NM_000507.3(FBP1):c.865A>T (p.Met289Leu) http://identifiers.org/clinvar/214367 ^@ NM_000507.3(FBP1):c.730C>T (p.Arg244Trp) http://identifiers.org/clinvar/214359 ^@ NM_000507.3(FBP1):c.670G>A (p.Val224Ile) http://identifiers.org/clinvar/214366 ^@ NM_000507.3(FBP1):c.496G>A (p.Ala166Thr) http://identifiers.org/clinvar/214365 ^@ NM_000507.3(FBP1):c.458C>A (p.Ala153Asp) http://identifiers.org/clinvar/214364 ^@ NM_000507.3(FBP1):c.355G>A (p.Asp119Asn) http://identifiers.org/clinvar/214357 ^@ NM_000507.3(FBP1):c.334-15T>C http://identifiers.org/clinvar/214363 ^@ NM_000507.3(FBP1):c.275C>T (p.Thr92Met) http://identifiers.org/clinvar/214362 ^@ NM_000507.3(FBP1):c.-749G>C http://identifiers.org/clinvar/214181 ^@ NM_021830.4(TWNK):c.338G>C (p.Cys113Ser) http://identifiers.org/clinvar/214172 ^@ NM_021830.4(TWNK):c.340A>T (p.Met114Leu) http://identifiers.org/clinvar/214173 ^@ NM_021830.4(TWNK):c.434C>T (p.Ala145Val) http://identifiers.org/clinvar/214174 ^@ NM_021830.4(TWNK):c.737A>G (p.Asn246Ser) http://identifiers.org/clinvar/214183 ^@ NM_021830.4(TWNK):c.967C>T (p.Arg323Ter) http://identifiers.org/clinvar/214175 ^@ NM_021830.4(TWNK):c.1021C>T (p.Arg341Cys) http://identifiers.org/clinvar/214184 ^@ NM_021830.4(TWNK):c.1110C>G (p.Phe370Leu) http://identifiers.org/clinvar/214176 ^@ NM_021830.4(TWNK):c.1112G>A (p.Arg371Gln) http://identifiers.org/clinvar/214186 ^@ NM_021830.4(TWNK):c.1229T>G (p.Leu410Arg) http://identifiers.org/clinvar/214190 ^@ NM_021830.4(TWNK):c.1462_1463delTT (p.Phe488Profs) http://identifiers.org/clinvar/214188 ^@ NM_021830.4(TWNK):c.1510G>A (p.Ala504Thr) http://identifiers.org/clinvar/214189 ^@ NM_021830.4(TWNK):c.1537G>C (p.Val513Leu) http://identifiers.org/clinvar/214177 ^@ NM_021830.4(TWNK):c.1697A>G (p.Lys566Arg) http://identifiers.org/clinvar/214178 ^@ NM_021830.4(TWNK):c.1975G>A (p.Ala659Thr) http://identifiers.org/clinvar/214179 ^@ NM_021830.4(TWNK):c.2015C>G (p.Pro672Arg) http://identifiers.org/clinvar/214180 ^@ NM_021830.4(TWNK):c.2045G>A (p.Arg682His) http://identifiers.org/clinvar/214980 ^@ NM_014317.4(PDSS1):c.74C>T (p.Ser25Phe) http://identifiers.org/clinvar/214979 ^@ NM_014317.4(PDSS1):c.139C>T (p.Arg47Trp) http://identifiers.org/clinvar/214982 ^@ NM_014317.4(PDSS1):c.163-5delT http://identifiers.org/clinvar/214984 ^@ NM_014317.4(PDSS1):c.336+5G>T http://identifiers.org/clinvar/214986 ^@ NM_014317.4(PDSS1):c.686C>G (p.Ser229Cys) http://identifiers.org/clinvar/214975 ^@ NM_014317.4(PDSS1):c.760G>C (p.Glu254Gln) http://identifiers.org/clinvar/214985 ^@ NM_014317.4(PDSS1):c.968delC (p.Thr323Asnfs) http://identifiers.org/clinvar/214977 ^@ NM_014317.4(PDSS1):c.1108-7C>G http://identifiers.org/clinvar/214978 ^@ NM_014317.4(PDSS1):c.*3A>G http://identifiers.org/clinvar/214673 ^@ NM_016065.3(MRPS16):c.389C>G (p.Thr130Arg) http://identifiers.org/clinvar/214672 ^@ NM_016065.3(MRPS16):c.380C>T (p.Ala127Val) http://identifiers.org/clinvar/214671 ^@ NM_016065.3(MRPS16):c.344C>T (p.Ala115Val) http://identifiers.org/clinvar/214676 ^@ NM_016065.3(MRPS16):c.332G>A (p.Arg111Gln) http://identifiers.org/clinvar/214675 ^@ NM_016065.3(MRPS16):c.300T>A (p.His100Gln) http://identifiers.org/clinvar/214677 ^@ NM_016065.3(MRPS16):c.275delG (p.Gly92Valfs) http://identifiers.org/clinvar/214670 ^@ NM_016065.3(MRPS16):c.112C>A (p.His38Asn) http://identifiers.org/clinvar/214669 ^@ NM_016065.3(MRPS16):c.38G>A (p.Arg13His) http://identifiers.org/clinvar/214252 ^@ NM_004376.6(COX15):c.1015G>A (p.Val339Met) http://identifiers.org/clinvar/214251 ^@ NM_004376.6(COX15):c.1000G>T (p.Val334Phe) http://identifiers.org/clinvar/214263 ^@ NM_004376.6(COX15):c.929C>G (p.Pro310Arg) http://identifiers.org/clinvar/214258 ^@ NM_004376.6(COX15):c.913C>T (p.Leu305Phe) http://identifiers.org/clinvar/214257 ^@ NM_004376.6(COX15):c.794A>G (p.His265Arg) http://identifiers.org/clinvar/214266 ^@ NM_004376.6(COX15):c.520G>A (p.Gly174Ser) http://identifiers.org/clinvar/214256 ^@ NM_078470.5(COX15):c.395+20_395+26delAGGTAAA http://identifiers.org/clinvar/214264 ^@ NM_004376.6(COX15):c.281A>C (p.Glu94Ala) http://identifiers.org/clinvar/214255 ^@ NM_004376.6(COX15):c.164G>A (p.Arg55Lys) http://identifiers.org/clinvar/214254 ^@ NM_078470.5(COX15):c.155A>G (p.Gln52Arg) http://identifiers.org/clinvar/214253 ^@ NM_004376.6(COX15):c.106C>T (p.Arg36Cys) http://identifiers.org/clinvar/214262 ^@ NM_004376.6(COX15):c.83G>C (p.Arg28Thr) http://identifiers.org/clinvar/214290 ^@ NM_001931.4(DLAT):c.359A>G (p.Asn120Ser) http://identifiers.org/clinvar/214291 ^@ NM_001931.4(DLAT):c.487A>G (p.Ile163Val) http://identifiers.org/clinvar/214292 ^@ NM_001931.4(DLAT):c.572C>T (p.Ala191Val) http://identifiers.org/clinvar/214293 ^@ NM_001931.4(DLAT):c.583C>T (p.Pro195Ser) http://identifiers.org/clinvar/214294 ^@ NM_001931.4(DLAT):c.628G>A (p.Ala210Thr) http://identifiers.org/clinvar/214295 ^@ NM_001931.4(DLAT):c.1152C>G (p.Ile384Met) http://identifiers.org/clinvar/215184 ^@ NM_001164277.1(SLC37A4):c.1220G>C (p.Ser407Thr) http://identifiers.org/clinvar/215182 ^@ NM_001164277.1(SLC37A4):c.1168C>T (p.His390Tyr) http://identifiers.org/clinvar/215181 ^@ NM_001164277.1(SLC37A4):c.991A>G (p.Ile331Val) http://identifiers.org/clinvar/215183 ^@ NM_001164277.1(SLC37A4):c.985-14T>G http://identifiers.org/clinvar/215180 ^@ NM_001164277.1(SLC37A4):c.968C>T (p.Thr323Ile) http://identifiers.org/clinvar/215179 ^@ NM_001164277.1(SLC37A4):c.956G>A (p.Arg319Gln) http://identifiers.org/clinvar/215178 ^@ NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) http://identifiers.org/clinvar/215177 ^@ NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) http://identifiers.org/clinvar/215176 ^@ NM_001164277.1(SLC37A4):c.433A>G (p.Met145Val) http://identifiers.org/clinvar/214455 ^@ NM_017547.3(FOXRED1):c.-35G>A http://identifiers.org/clinvar/214438 ^@ NM_017547.3(FOXRED1):c.-31A>G http://identifiers.org/clinvar/214445 ^@ NM_017547.3(FOXRED1):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/214439 ^@ NM_017547.3(FOXRED1):c.10A>G (p.Arg4Gly) http://identifiers.org/clinvar/214440 ^@ NM_017547.3(FOXRED1):c.25G>C (p.Gly9Arg) http://identifiers.org/clinvar/214454 ^@ NM_017547.3(FOXRED1):c.86-1G>A http://identifiers.org/clinvar/214443 ^@ NM_017547.3(FOXRED1):c.239A>G (p.Tyr80Cys) http://identifiers.org/clinvar/214444 ^@ NM_017547.3(FOXRED1):c.305C>T (p.Thr102Met) http://identifiers.org/clinvar/214436 ^@ NM_017547.3(FOXRED1):c.434T>C (p.Val145Ala) http://identifiers.org/clinvar/214437 ^@ NM_017547.3(FOXRED1):c.435C>T (p.Val145=) http://identifiers.org/clinvar/214446 ^@ NM_017547.3(FOXRED1):c.682C>T (p.Arg228Trp) http://identifiers.org/clinvar/214441 ^@ NM_017547.3(FOXRED1):c.899C>G (p.Ala300Gly) http://identifiers.org/clinvar/214447 ^@ NM_017547.3(FOXRED1):c.920G>A (p.Gly307Glu) http://identifiers.org/clinvar/214442 ^@ NM_017547.3(FOXRED1):c.971+16A>G http://identifiers.org/clinvar/214448 ^@ NM_017547.3(FOXRED1):c.1051C>T (p.Arg351Cys) http://identifiers.org/clinvar/214450 ^@ NM_017547.3(FOXRED1):c.1088G>A (p.Arg363His) http://identifiers.org/clinvar/214451 ^@ NM_017547.3(FOXRED1):c.1171T>G (p.Leu391Val) http://identifiers.org/clinvar/214452 ^@ NM_017547.3(FOXRED1):c.1190C>G (p.Ala397Gly) http://identifiers.org/clinvar/214456 ^@ NM_017547.3(FOXRED1):c.1252C>G (p.Gln418Glu) http://identifiers.org/clinvar/214453 ^@ NM_017547.3(FOXRED1):c.1307G>A (p.Gly436Asp) http://identifiers.org/clinvar/214953 ^@ NM_003477.2(PDHX):c.-23C>A http://identifiers.org/clinvar/214954 ^@ NM_003477.2(PDHX):c.160G>A (p.Gly54Ser) http://identifiers.org/clinvar/214955 ^@ NM_003477.2(PDHX):c.579A>G (p.Glu193=) http://identifiers.org/clinvar/214960 ^@ NM_003477.2(PDHX):c.589C>A (p.Leu197Met) http://identifiers.org/clinvar/214961 ^@ NM_003477.2(PDHX):c.623G>A (p.Arg208Gln) http://identifiers.org/clinvar/214962 ^@ NM_003477.2(PDHX):c.640G>C (p.Glu214Gln) http://identifiers.org/clinvar/214956 ^@ NM_003477.2(PDHX):c.674C>T (p.Thr225Met) http://identifiers.org/clinvar/214963 ^@ NM_003477.2(PDHX):c.749C>T (p.Thr250Ile) http://identifiers.org/clinvar/214957 ^@ NM_003477.2(PDHX):c.1023+18A>G http://identifiers.org/clinvar/214964 ^@ NM_003477.2(PDHX):c.1052A>G (p.Asp351Gly) http://identifiers.org/clinvar/214965 ^@ NM_003477.2(PDHX):c.1061G>A (p.Gly354Asp) http://identifiers.org/clinvar/214958 ^@ NM_003477.2(PDHX):c.1129A>G (p.Ile377Val) http://identifiers.org/clinvar/214967 ^@ NM_003477.2(PDHX):c.1256A>G (p.Asn419Ser) http://identifiers.org/clinvar/214959 ^@ NM_003477.2(PDHX):c.1333T>G (p.Phe445Val) http://identifiers.org/clinvar/214805 ^@ NM_004551.2(NDUFS3):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/214803 ^@ NM_004551.2(NDUFS3):c.79C>T (p.Pro27Ser) http://identifiers.org/clinvar/214804 ^@ NM_004551.2(NDUFS3):c.123C>T (p.Ala41=) http://identifiers.org/clinvar/214802 ^@ NM_004551.2(NDUFS3):c.475G>C (p.Val159Leu) http://identifiers.org/clinvar/214807 ^@ NM_004551.2(NDUFS3):c.568_569delGA (p.Asp190Leufs) http://identifiers.org/clinvar/214846 ^@ NM_007103.3(NDUFV1):c.-45T>G http://identifiers.org/clinvar/214847 ^@ NM_007103.3(NDUFV1):c.80C>G (p.Pro27Arg) http://identifiers.org/clinvar/214848 ^@ NM_007103.3(NDUFV1):c.116A>G (p.Asp39Gly) http://identifiers.org/clinvar/214842 ^@ NM_007103.3(NDUFV1):c.150C>T (p.Asp50=) http://identifiers.org/clinvar/214839 ^@ NM_007103.3(NDUFV1):c.220G>A (p.Asp74Asn) http://identifiers.org/clinvar/214849 ^@ NM_007103.3(NDUFV1):c.249G>A (p.Ser83=) http://identifiers.org/clinvar/214851 ^@ NM_007103.3(NDUFV1):c.349G>A (p.Ala117Thr) http://identifiers.org/clinvar/214852 ^@ NM_007103.3(NDUFV1):c.365C>T (p.Pro122Leu) http://identifiers.org/clinvar/214855 ^@ NM_007103.3(NDUFV1):c.457G>A (p.Ala153Thr) http://identifiers.org/clinvar/214856 ^@ NM_007103.3(NDUFV1):c.479G>A (p.Gly160Glu) http://identifiers.org/clinvar/214863 ^@ NM_007103.3(NDUFV1):c.617G>A (p.Cys206Tyr) http://identifiers.org/clinvar/214843 ^@ NM_007103.3(NDUFV1):c.700+12C>T http://identifiers.org/clinvar/214857 ^@ NM_007103.3(NDUFV1):c.800G>A (p.Arg267Lys) http://identifiers.org/clinvar/214858 ^@ NM_007103.3(NDUFV1):c.848A>G (p.Asn283Ser) http://identifiers.org/clinvar/214853 ^@ NM_007103.3(NDUFV1):c.1070T>C (p.Met357Thr) http://identifiers.org/clinvar/214860 ^@ NM_007103.3(NDUFV1):c.1102G>A (p.Ala368Thr) http://identifiers.org/clinvar/214861 ^@ NM_007103.3(NDUFV1):c.1132A>C (p.Ser378Arg) http://identifiers.org/clinvar/214844 ^@ NM_007103.3(NDUFV1):c.1163-12delC http://identifiers.org/clinvar/214862 ^@ NM_007103.3(NDUFV1):c.1256_1259delTAGA (p.Ile419Lysfs) http://identifiers.org/clinvar/214845 ^@ NM_007103.3(NDUFV1):c.1355G>C (p.Arg452Pro) http://identifiers.org/clinvar/214836 ^@ NM_002496.3(NDUFS8):c.4C>T (p.Arg2Cys) http://identifiers.org/clinvar/214835 ^@ NM_002496.3(NDUFS8):c.64C>T (p.Pro22Ser) http://identifiers.org/clinvar/214837 ^@ NM_002496.3(NDUFS8):c.313C>T (p.Pro105Ser) http://identifiers.org/clinvar/214838 ^@ NM_002496.3(NDUFS8):c.428A>T (p.Tyr143Phe) http://identifiers.org/clinvar/214841 ^@ NM_002496.3(NDUFS8):c.611A>T (p.Gln204Leu) http://identifiers.org/clinvar/215269 ^@ NM_032273.3(TMEM126A):c.-46_-45insACCG http://identifiers.org/clinvar/215270 ^@ NM_032273.3(TMEM126A):c.280+14C>T http://identifiers.org/clinvar/215271 ^@ NM_032273.3(TMEM126A):c.395+5G>A http://identifiers.org/clinvar/214555 ^@ NM_213595.3(ISCU):c.10G>C (p.Ala4Pro) http://identifiers.org/clinvar/214553 ^@ NM_213595.3(ISCU):c.51G>A (p.Leu17=) http://identifiers.org/clinvar/214556 ^@ NM_213595.3(ISCU):c.100C>T (p.Leu34Phe) http://identifiers.org/clinvar/214554 ^@ NM_213595.3(ISCU):c.114+17dupG http://identifiers.org/clinvar/214552 ^@ NM_213595.3(ISCU):c.339+6dupG http://identifiers.org/clinvar/214192 ^@ NM_152269.4(C12orf65):c.96_99dupATCC (p.Pro34Ilefs) http://identifiers.org/clinvar/214191 ^@ NM_152269.4(C12orf65):c.244G>A (p.Val82Met) http://identifiers.org/clinvar/214193 ^@ NM_152269.4(C12orf65):c.244G>T (p.Val82Leu) http://identifiers.org/clinvar/215029 ^@ NM_025215.5(PUS1):c.75-20C>T http://identifiers.org/clinvar/215044 ^@ NM_025215.5(PUS1):c.136C>T (p.Arg46Trp) http://identifiers.org/clinvar/215039 ^@ NM_025215.5(PUS1):c.185G>A (p.Gly62Glu) http://identifiers.org/clinvar/215048 ^@ NM_025215.5(PUS1):c.190C>T (p.His64Tyr) http://identifiers.org/clinvar/215042 ^@ NM_025215.5(PUS1):c.218G>A (p.Gly73Asp) http://identifiers.org/clinvar/215043 ^@ NM_025215.5(PUS1):c.457G>A (p.Gly153Ser) http://identifiers.org/clinvar/215035 ^@ NM_025215.5(PUS1):c.621G>A (p.Thr207=) http://identifiers.org/clinvar/215045 ^@ NM_025215.5(PUS1):c.728A>G (p.His243Arg) http://identifiers.org/clinvar/215046 ^@ NM_025215.5(PUS1):c.789C>G (p.Ile263Met) http://identifiers.org/clinvar/215036 ^@ NM_025215.5(PUS1):c.818T>C (p.Val273Ala) http://identifiers.org/clinvar/215050 ^@ NM_025215.5(PUS1):c.841G>A (p.Val281Met) http://identifiers.org/clinvar/215047 ^@ NM_025215.5(PUS1):c.878A>C (p.Gln293Pro) http://identifiers.org/clinvar/215038 ^@ NM_025215.5(PUS1):c.984G>A (p.Ala328=) http://identifiers.org/clinvar/215040 ^@ NM_025215.5(PUS1):c.1140C>T (p.Thr380=) http://identifiers.org/clinvar/215041 ^@ NM_025215.5(PUS1):c.1226C>T (p.Thr409Met) http://identifiers.org/clinvar/214526 ^@ NM_021957.3(GYS2):c.2005G>A (p.Asp669Asn) http://identifiers.org/clinvar/214535 ^@ NM_021957.3(GYS2):c.1789G>A (p.Asp597Asn) http://identifiers.org/clinvar/214525 ^@ NM_021957.3(GYS2):c.1657G>A (p.Val553Ile) http://identifiers.org/clinvar/214533 ^@ NM_021957.3(GYS2):c.1553A>C (p.Glu518Ala) http://identifiers.org/clinvar/214532 ^@ NM_021957.3(GYS2):c.1427T>A (p.Ile476Asn) http://identifiers.org/clinvar/214531 ^@ NM_021957.3(GYS2):c.1277C>T (p.Thr426Ile) http://identifiers.org/clinvar/214537 ^@ NM_021957.3(GYS2):c.942-42_974delGCTGTATTTCATTTGAAACTGTTTGGTTTTGTTTTGTTTTAGTCATCTCGACTTTGATCTTGAAAAGACTTTGTT http://identifiers.org/clinvar/214530 ^@ NM_021957.3(GYS2):c.574C>T (p.Arg192Ter) http://identifiers.org/clinvar/214524 ^@ NM_021957.3(GYS2):c.556A>T (p.Ile186Phe) http://identifiers.org/clinvar/214529 ^@ NM_021957.3(GYS2):c.547C>T (p.Gln183Ter) http://identifiers.org/clinvar/214528 ^@ NM_021957.3(GYS2):c.495+3A>G http://identifiers.org/clinvar/214523 ^@ NM_021957.3(GYS2):c.395G>A (p.Gly132Asp) http://identifiers.org/clinvar/214527 ^@ NM_021957.3(GYS2):c.299G>A (p.Cys100Tyr) http://identifiers.org/clinvar/214522 ^@ NM_021957.3(GYS2):c.279C>G (p.Asp93Glu) http://identifiers.org/clinvar/214307 ^@ NM_012062.4(DNM1L):c.-14G>A http://identifiers.org/clinvar/214308 ^@ NM_012062.4(DNM1L):c.305C>T (p.Thr102Met) http://identifiers.org/clinvar/214309 ^@ NM_012062.4(DNM1L):c.422A>G (p.Asn141Ser) http://identifiers.org/clinvar/214301 ^@ NM_012062.4(DNM1L):c.741-19G>A http://identifiers.org/clinvar/214302 ^@ NM_012062.4(DNM1L):c.1200+9G>A http://identifiers.org/clinvar/214313 ^@ NM_012062.4(DNM1L):c.1207C>T (p.Arg403Cys) http://identifiers.org/clinvar/214311 ^@ NM_012062.4(DNM1L):c.1639C>T (p.Pro547Ser) http://identifiers.org/clinvar/214303 ^@ NM_012062.4(DNM1L):c.1640C>T (p.Pro547Leu) http://identifiers.org/clinvar/214314 ^@ NM_012062.4(DNM1L):c.1645C>T (p.Pro549Ser) http://identifiers.org/clinvar/214304 ^@ NM_012062.4(DNM1L):c.1648G>A (p.Ala550Thr) http://identifiers.org/clinvar/214315 ^@ NM_012062.4(DNM1L):c.1649C>A (p.Ala550Asp) http://identifiers.org/clinvar/214316 ^@ NM_012062.4(DNM1L):c.1651G>A (p.Ala551Thr) http://identifiers.org/clinvar/214305 ^@ NM_012062.4(DNM1L):c.1834A>T (p.Ile612Phe) http://identifiers.org/clinvar/214306 ^@ NM_012062.4(DNM1L):c.1885-15delC http://identifiers.org/clinvar/214312 ^@ NM_012062.4(DNM1L):c.2032G>A (p.Val678Met) http://identifiers.org/clinvar/215420 ^@ NM_001040436.2(YARS2):c.1396A>G (p.Lys466Glu) http://identifiers.org/clinvar/215426 ^@ NM_001040436.2(YARS2):c.1360_1362delATTinsGA (p.Ile454Aspfs) http://identifiers.org/clinvar/215425 ^@ NM_001040436.2(YARS2):c.1275-2dupA http://identifiers.org/clinvar/215422 ^@ NM_001040436.2(YARS2):c.948G>A (p.Arg316=) http://identifiers.org/clinvar/215421 ^@ NM_001040436.2(YARS2):c.933C>G (p.Asp311Glu) http://identifiers.org/clinvar/215419 ^@ NM_001040436.2(YARS2):c.928C>T (p.Pro310Ser) http://identifiers.org/clinvar/215416 ^@ NM_001040436.2(YARS2):c.883G>A (p.Asp295Asn) http://identifiers.org/clinvar/215424 ^@ NM_001040436.2(YARS2):c.374G>C (p.Arg125Pro) http://identifiers.org/clinvar/215423 ^@ NM_001040436.2(YARS2):c.236G>T (p.Gly79Val) http://identifiers.org/clinvar/215418 ^@ NM_001040436.2(YARS2):c.202G>A (p.Gly68Ser) http://identifiers.org/clinvar/215417 ^@ NM_001040436.2(YARS2):c.104C>A (p.Ala35Asp) http://identifiers.org/clinvar/214716 ^@ NM_005002.4(NDUFA9):c.31C>T (p.Arg11Trp) http://identifiers.org/clinvar/214717 ^@ NM_005002.4(NDUFA9):c.58A>G (p.Ile20Val) http://identifiers.org/clinvar/214719 ^@ NM_005002.4(NDUFA9):c.182C>T (p.Ala61Val) http://identifiers.org/clinvar/214722 ^@ NM_005002.4(NDUFA9):c.224G>T (p.Arg75Leu) http://identifiers.org/clinvar/214723 ^@ NM_005002.4(NDUFA9):c.253C>T (p.Arg85Trp) http://identifiers.org/clinvar/214713 ^@ NM_005002.4(NDUFA9):c.580G>A (p.Ala194Thr) http://identifiers.org/clinvar/214714 ^@ NM_005002.4(NDUFA9):c.728T>C (p.Val243Ala) http://identifiers.org/clinvar/214715 ^@ NM_005002.4(NDUFA9):c.942A>G (p.Ile314Met) http://identifiers.org/clinvar/214718 ^@ NM_005002.4(NDUFA9):c.965T>C (p.Met322Thr) http://identifiers.org/clinvar/214724 ^@ NM_005002.4(NDUFA9):c.1012C>T (p.Leu338Phe) http://identifiers.org/clinvar/214250 ^@ NM_032901.3(COX14):c.81dupG (p.Tyr28Valfs) http://identifiers.org/clinvar/214249 ^@ NM_032901.3(COX14):c.121C>T (p.Arg41Cys) http://identifiers.org/clinvar/214696 ^@ NM_018838.4(NDUFA12):c.66C>G (p.Gly22=) http://identifiers.org/clinvar/214695 ^@ NM_018838.4(NDUFA12):c.44C>G (p.Thr15Ser) http://identifiers.org/clinvar/215164 ^@ NM_005888.3(SLC25A3):c.69C>A (p.His23Gln) http://identifiers.org/clinvar/215165 ^@ NM_005888.3(SLC25A3):c.158-9A>G http://identifiers.org/clinvar/215162 ^@ NM_005888.3(SLC25A3):c.279G>T (p.Met93Ile) http://identifiers.org/clinvar/215166 ^@ NM_005888.3(SLC25A3):c.931G>A (p.Val311Ile) http://identifiers.org/clinvar/215167 ^@ NM_005888.3(SLC25A3):c.1006G>A (p.Val336Met) http://identifiers.org/clinvar/214880 ^@ NM_025152.2(NUBPL):c.140A>G (p.Gln47Arg) http://identifiers.org/clinvar/214881 ^@ NM_025152.2(NUBPL):c.145A>G (p.Arg49Gly) http://identifiers.org/clinvar/214871 ^@ NM_025152.2(NUBPL):c.162C>T (p.Ser54=) http://identifiers.org/clinvar/214872 ^@ NM_025152.2(NUBPL):c.167G>A (p.Gly56Glu) http://identifiers.org/clinvar/214884 ^@ NM_025152.2(NUBPL):c.201_202insG (p.Gln68Alafs) http://identifiers.org/clinvar/214873 ^@ NM_025152.2(NUBPL):c.256+14T>C http://identifiers.org/clinvar/214886 ^@ NM_025152.2(NUBPL):c.290C>T (p.Ser97Leu) http://identifiers.org/clinvar/214883 ^@ NM_025152.2(NUBPL):c.376T>C (p.Ser126Pro) http://identifiers.org/clinvar/214870 ^@ NM_025152.2(NUBPL):c.383-20_383-19delAG http://identifiers.org/clinvar/214878 ^@ NM_025152.2(NUBPL):c.426G>A (p.Met142Ile) http://identifiers.org/clinvar/214879 ^@ NM_025152.2(NUBPL):c.488C>T (p.Ser163Leu) http://identifiers.org/clinvar/214874 ^@ NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) http://identifiers.org/clinvar/214875 ^@ NM_025152.2(NUBPL):c.593A>C (p.Asn198Thr) http://identifiers.org/clinvar/214882 ^@ NM_025152.2(NUBPL):c.685C>T (p.His229Tyr) http://identifiers.org/clinvar/214236 ^@ NM_182476.2(COQ6):c.115G>A (p.Val39Met) http://identifiers.org/clinvar/214231 ^@ NM_182476.2(COQ6):c.145G>T (p.Ala49Ser) http://identifiers.org/clinvar/214234 ^@ NM_182476.2(COQ6):c.395A>G (p.Asp132Gly) http://identifiers.org/clinvar/214235 ^@ NM_182476.2(COQ6):c.436G>T (p.Asp146Tyr) http://identifiers.org/clinvar/214237 ^@ NM_182476.2(COQ6):c.917T>C (p.Phe306Ser) http://identifiers.org/clinvar/214233 ^@ NM_182476.2(COQ6):c.982G>A (p.Ala328Thr) http://identifiers.org/clinvar/214238 ^@ NM_182476.2(COQ6):c.1139A>G (p.Asn380Ser) http://identifiers.org/clinvar/214232 ^@ NM_182476.2(COQ6):c.1184C>T (p.Thr395Met) http://identifiers.org/clinvar/214725 ^@ NM_016013.3(NDUFAF1):c.855C>T (p.Thr285=) http://identifiers.org/clinvar/214736 ^@ NM_016013.3(NDUFAF1):c.712A>G (p.Ser238Gly) http://identifiers.org/clinvar/214733 ^@ NM_016013.3(NDUFAF1):c.650G>A (p.Arg217Gln) http://identifiers.org/clinvar/214731 ^@ NM_016013.3(NDUFAF1):c.553A>G (p.Met185Val) http://identifiers.org/clinvar/214735 ^@ NM_016013.3(NDUFAF1):c.368T>C (p.Val123Ala) http://identifiers.org/clinvar/214730 ^@ NM_016013.3(NDUFAF1):c.249T>A (p.Asp83Glu) http://identifiers.org/clinvar/214729 ^@ NM_016013.3(NDUFAF1):c.215C>G (p.Thr72Ser) http://identifiers.org/clinvar/214728 ^@ NM_016013.3(NDUFAF1):c.143A>G (p.Lys48Arg) http://identifiers.org/clinvar/214727 ^@ NM_016013.3(NDUFAF1):c.70T>A (p.Leu24Met) http://identifiers.org/clinvar/214734 ^@ NM_016013.3(NDUFAF1):c.35A>G (p.Tyr12Cys) http://identifiers.org/clinvar/214732 ^@ NM_016013.3(NDUFAF1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/214468 ^@ NM_005262.2(GFER):c.14G>C (p.Gly5Ala) http://identifiers.org/clinvar/214469 ^@ NM_005262.2(GFER):c.57G>C (p.Pro19=) http://identifiers.org/clinvar/214476 ^@ NM_005262.2(GFER):c.199delC (p.Arg67Glyfs) http://identifiers.org/clinvar/214475 ^@ NM_005262.2(GFER):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/214466 ^@ NM_005262.2(GFER):c.270G>C (p.Lys90Asn) http://identifiers.org/clinvar/214471 ^@ NM_005262.2(GFER):c.373C>T (p.Gln125Ter) http://identifiers.org/clinvar/214472 ^@ NM_005262.2(GFER):c.454A>G (p.Arg152Gly) http://identifiers.org/clinvar/214467 ^@ NM_005262.2(GFER):c.514C>A (p.His172Asn) http://identifiers.org/clinvar/214473 ^@ NM_005262.2(GFER):c.550C>A (p.Pro184Thr) http://identifiers.org/clinvar/214474 ^@ NM_005262.2(GFER):c.592G>A (p.Gly198Ser) http://identifiers.org/clinvar/215315 ^@ NM_003321.4(TUFM):c.1364G>A (p.Gly455Asp) http://identifiers.org/clinvar/215314 ^@ NM_003321.4(TUFM):c.1348A>G (p.Lys450Glu) http://identifiers.org/clinvar/215313 ^@ NM_003321.4(TUFM):c.1292A>G (p.Asn431Ser) http://identifiers.org/clinvar/215312 ^@ NM_003321.4(TUFM):c.1196A>G (p.Glu399Gly) http://identifiers.org/clinvar/215317 ^@ NM_003321.4(TUFM):c.851G>A (p.Arg284His) http://identifiers.org/clinvar/215311 ^@ NM_003321.4(TUFM):c.622G>A (p.Glu208Lys) http://identifiers.org/clinvar/215316 ^@ NM_003321.4(TUFM):c.117G>C (p.Leu39Phe) http://identifiers.org/clinvar/215318 ^@ NM_003321.4(TUFM):c.35C>G (p.Ala12Gly) http://identifiers.org/clinvar/215310 ^@ NM_003321.4(TUFM):c.20C>T (p.Ala7Val) http://identifiers.org/clinvar/214242 ^@ NM_020312.3(COQ9):c.34C>G (p.Arg12Gly) http://identifiers.org/clinvar/214240 ^@ NM_020312.3(COQ9):c.79C>G (p.Arg27Gly) http://identifiers.org/clinvar/214241 ^@ NM_020312.3(COQ9):c.184C>T (p.His62Tyr) http://identifiers.org/clinvar/214244 ^@ NM_020312.3(COQ9):c.242+5G>A http://identifiers.org/clinvar/214248 ^@ NM_020312.3(COQ9):c.323T>G (p.Leu108Arg) http://identifiers.org/clinvar/214245 ^@ NM_020312.3(COQ9):c.362T>C (p.Ile121Thr) http://identifiers.org/clinvar/214246 ^@ NM_020312.3(COQ9):c.443A>C (p.His148Pro) http://identifiers.org/clinvar/214247 ^@ NM_020312.3(COQ9):c.505C>G (p.Gln169Glu) http://identifiers.org/clinvar/214243 ^@ NM_020312.3(COQ9):c.835G>A (p.Asp279Asn) http://identifiers.org/clinvar/214239 ^@ NM_020312.3(COQ9):c.849G>A (p.Met283Ile) http://identifiers.org/clinvar/215264 ^@ NM_004614.4(TK2):c.754C>T (p.Arg252Trp) http://identifiers.org/clinvar/215268 ^@ NM_004614.4(TK2):c.680C>T (p.Pro227Leu) http://identifiers.org/clinvar/215267 ^@ NM_004614.4(TK2):c.469G>A (p.Asp157Asn) http://identifiers.org/clinvar/215262 ^@ NM_004614.4(TK2):c.122C>A (p.Pro41His) http://identifiers.org/clinvar/215261 ^@ NM_004614.4(TK2):c.94C>T (p.Arg32Trp) http://identifiers.org/clinvar/215198 ^@ NM_003119.3(SPG7):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/215220 ^@ NM_003119.3(SPG7):c.58C>T (p.Arg20Trp) http://identifiers.org/clinvar/215199 ^@ NM_003119.3(SPG7):c.89G>A (p.Ser30Asn) http://identifiers.org/clinvar/215200 ^@ NM_003119.3(SPG7):c.95G>A (p.Gly32Glu) http://identifiers.org/clinvar/215187 ^@ NM_003119.3(SPG7):c.199C>T (p.Leu67=) http://identifiers.org/clinvar/215213 ^@ NM_003119.3(SPG7):c.220G>A (p.Gly74Arg) http://identifiers.org/clinvar/215197 ^@ NM_003119.3(SPG7):c.347C>T (p.Ser116Leu) http://identifiers.org/clinvar/215201 ^@ NM_003119.3(SPG7):c.388C>T (p.Arg130Cys) http://identifiers.org/clinvar/215185 ^@ NM_003119.3(SPG7):c.403G>A (p.Asp135Asn) http://identifiers.org/clinvar/215202 ^@ NM_003119.3(SPG7):c.412T>A (p.Tyr138Asn) http://identifiers.org/clinvar/215203 ^@ NM_003119.3(SPG7):c.413A>C (p.Tyr138Ser) http://identifiers.org/clinvar/215204 ^@ NM_003119.3(SPG7):c.524T>C (p.Leu175Pro) http://identifiers.org/clinvar/215205 ^@ NM_003119.3(SPG7):c.584A>G (p.Tyr195Cys) http://identifiers.org/clinvar/215206 ^@ NM_003119.3(SPG7):c.703A>G (p.Ile235Val) http://identifiers.org/clinvar/215207 ^@ NM_003119.3(SPG7):c.782C>T (p.Thr261Met) http://identifiers.org/clinvar/215186 ^@ NM_003119.3(SPG7):c.862-16T>G http://identifiers.org/clinvar/215209 ^@ NM_003119.3(SPG7):c.941T>C (p.Met314Thr) http://identifiers.org/clinvar/215211 ^@ NM_003119.3(SPG7):c.1267G>A (p.Gly423Ser) http://identifiers.org/clinvar/215212 ^@ NM_003119.3(SPG7):c.1305G>T (p.Gln435His) http://identifiers.org/clinvar/215188 ^@ NM_003119.3(SPG7):c.1324+4173C>T http://identifiers.org/clinvar/215208 ^@ NM_003119.3(SPG7):c.1586C>T (p.Ala529Val) http://identifiers.org/clinvar/215214 ^@ NM_003119.3(SPG7):c.1643C>A (p.Ala548Asp) http://identifiers.org/clinvar/215189 ^@ NM_003119.3(SPG7):c.1653C>T (p.Arg551=) http://identifiers.org/clinvar/215190 ^@ NM_003119.3(SPG7):c.1663+14G>A http://identifiers.org/clinvar/215215 ^@ NM_003119.3(SPG7):c.1675A>T (p.Lys559Ter) http://identifiers.org/clinvar/215223 ^@ NM_003119.3(SPG7):c.1727C>G (p.Ser576Trp) http://identifiers.org/clinvar/215216 ^@ NM_003119.3(SPG7):c.1771G>A (p.Val591Met) http://identifiers.org/clinvar/215191 ^@ NM_003119.3(SPG7):c.1779+20G>A http://identifiers.org/clinvar/215192 ^@ NM_003119.3(SPG7):c.1780-16_1780-14delCTT http://identifiers.org/clinvar/215193 ^@ NM_003119.3(SPG7):c.1909G>A (p.Ala637Thr) http://identifiers.org/clinvar/215194 ^@ NM_003119.3(SPG7):c.1933T>A (p.Ser645Thr) http://identifiers.org/clinvar/215217 ^@ NM_003119.3(SPG7):c.2041G>C (p.Glu681Gln) http://identifiers.org/clinvar/215224 ^@ NM_003119.3(SPG7):c.2104G>A (p.Glu702Lys) http://identifiers.org/clinvar/215195 ^@ NM_003119.3(SPG7):c.2188A>G (p.Asn730Asp) http://identifiers.org/clinvar/215221 ^@ NM_003119.3(SPG7):c.2189delA (p.Asn730Thrfs) http://identifiers.org/clinvar/215218 ^@ NM_003119.3(SPG7):c.2228T>C (p.Ile743Thr) http://identifiers.org/clinvar/215219 ^@ NM_003119.3(SPG7):c.2275G>A (p.Ala759Thr) http://identifiers.org/clinvar/215196 ^@ NM_003119.3(SPG7):c.2311C>G (p.Gln771Glu) http://identifiers.org/clinvar/215123 ^@ NM_004589.3(SCO1):c.787A>G (p.Ile263Val) http://identifiers.org/clinvar/215117 ^@ NM_004589.3(SCO1):c.753C>T (p.Asp251=) http://identifiers.org/clinvar/215125 ^@ NM_004589.3(SCO1):c.430A>G (p.Thr144Ala) http://identifiers.org/clinvar/215118 ^@ NM_004589.3(SCO1):c.342C>A (p.His114Gln) http://identifiers.org/clinvar/215122 ^@ NM_004589.3(SCO1):c.104G>A (p.Gly35Glu) http://identifiers.org/clinvar/215121 ^@ NM_004589.3(SCO1):c.61C>G (p.Arg21Gly) http://identifiers.org/clinvar/215120 ^@ NM_004589.3(SCO1):c.41C>T (p.Pro14Leu) http://identifiers.org/clinvar/215119 ^@ NM_004589.3(SCO1):c.26G>T (p.Gly9Val) http://identifiers.org/clinvar/215298 ^@ NM_017775.3(TTC19):c.-44A>G http://identifiers.org/clinvar/215308 ^@ NM_017775.3(TTC19):c.-42G>T http://identifiers.org/clinvar/215303 ^@ NM_017775.3(TTC19):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/215299 ^@ NM_017775.3(TTC19):c.23G>C (p.Ser8Thr) http://identifiers.org/clinvar/215300 ^@ NM_017775.3(TTC19):c.194G>A (p.Trp65Ter) http://identifiers.org/clinvar/215306 ^@ NM_017775.3(TTC19):c.593C>G (p.Ala198Gly) http://identifiers.org/clinvar/215307 ^@ NM_017775.3(TTC19):c.612C>G (p.Phe204Leu) http://identifiers.org/clinvar/215302 ^@ NM_017775.3(TTC19):c.787G>T (p.Ala263Ser) http://identifiers.org/clinvar/215304 ^@ NM_017775.3(TTC19):c.820A>G (p.Arg274Gly) http://identifiers.org/clinvar/215296 ^@ NM_017775.3(TTC19):c.911G>C (p.Arg304Thr) http://identifiers.org/clinvar/215305 ^@ NM_017775.3(TTC19):c.997C>T (p.Arg333Ter) http://identifiers.org/clinvar/215297 ^@ NM_017775.3(TTC19):c.1004C>T (p.Thr335Ile) http://identifiers.org/clinvar/214134 ^@ NM_145691.3(ATPAF2):c.*20C>G http://identifiers.org/clinvar/214138 ^@ NM_145691.3(ATPAF2):c.802G>A (p.Ala268Thr) http://identifiers.org/clinvar/214137 ^@ NM_145691.3(ATPAF2):c.785T>C (p.Leu262Pro) http://identifiers.org/clinvar/214133 ^@ NM_145691.3(ATPAF2):c.722A>G (p.Glu241Gly) http://identifiers.org/clinvar/214132 ^@ NM_145691.3(ATPAF2):c.627T>G (p.Phe209Leu) http://identifiers.org/clinvar/214136 ^@ NM_145691.3(ATPAF2):c.566G>C (p.Arg189Pro) http://identifiers.org/clinvar/214131 ^@ NM_145691.3(ATPAF2):c.566G>A (p.Arg189Gln) http://identifiers.org/clinvar/214139 ^@ NM_145691.3(ATPAF2):c.389C>A (p.Ala130Glu) http://identifiers.org/clinvar/214135 ^@ NM_145691.3(ATPAF2):c.40C>G (p.Arg14Gly) http://identifiers.org/clinvar/214458 ^@ NM_000151.3(G6PC):c.432G>A (p.Pro144=) http://identifiers.org/clinvar/214465 ^@ NM_000151.3(G6PC):c.562G>A (p.Gly188Ser) http://identifiers.org/clinvar/214459 ^@ NM_000151.3(G6PC):c.665G>C (p.Gly222Ala) http://identifiers.org/clinvar/214457 ^@ NM_000151.3(G6PC):c.694G>A (p.Val232Ile) http://identifiers.org/clinvar/214460 ^@ NM_000151.3(G6PC):c.882C>A (p.Phe294Leu) http://identifiers.org/clinvar/214463 ^@ NM_000151.3(G6PC):c.910G>A (p.Val304Ile) http://identifiers.org/clinvar/214461 ^@ NM_000151.3(G6PC):c.943C>G (p.Pro315Ala) http://identifiers.org/clinvar/214462 ^@ NM_000151.3(G6PC):c.965T>A (p.Phe322Tyr) http://identifiers.org/clinvar/215248 ^@ NM_016360.3(TACO1):c.98G>A (p.Arg33Gln) http://identifiers.org/clinvar/215244 ^@ NM_016360.3(TACO1):c.498T>C (p.His166=) http://identifiers.org/clinvar/215242 ^@ NM_016360.3(TACO1):c.614G>A (p.Arg205His) http://identifiers.org/clinvar/215246 ^@ NM_016360.3(TACO1):c.650A>T (p.Asp217Val) http://identifiers.org/clinvar/215247 ^@ NM_016360.3(TACO1):c.742T>G (p.Ser248Ala) http://identifiers.org/clinvar/215245 ^@ NM_016360.3(TACO1):c.*19C>T http://identifiers.org/clinvar/215019 ^@ NM_007215.3(POLG2):c.1417G>A (p.Asp473Asn) http://identifiers.org/clinvar/215026 ^@ NM_007215.3(POLG2):c.1293G>C (p.Lys431Asn) http://identifiers.org/clinvar/215018 ^@ NM_007215.3(POLG2):c.1158T>G (p.Asp386Glu) http://identifiers.org/clinvar/215033 ^@ NM_007215.3(POLG2):c.1102delC (p.His368Ilefs) http://identifiers.org/clinvar/215020 ^@ NM_007215.3(POLG2):c.927C>T (p.His309=) http://identifiers.org/clinvar/215030 ^@ NM_007215.3(POLG2):c.734C>T (p.Pro245Leu) http://identifiers.org/clinvar/215028 ^@ NM_007215.3(POLG2):c.703A>G (p.Thr235Ala) http://identifiers.org/clinvar/215034 ^@ NM_007215.3(POLG2):c.590T>C (p.Leu197Pro) http://identifiers.org/clinvar/215017 ^@ NM_007215.3(POLG2):c.457C>G (p.Leu153Val) http://identifiers.org/clinvar/215023 ^@ NM_007215.3(POLG2):c.397C>T (p.His133Tyr) http://identifiers.org/clinvar/215032 ^@ NM_007215.3(POLG2):c.307G>A (p.Gly103Ser) http://identifiers.org/clinvar/215022 ^@ NM_007215.3(POLG2):c.181G>A (p.Gly61Arg) http://identifiers.org/clinvar/215021 ^@ NM_007215.3(POLG2):c.122G>A (p.Gly41Glu) http://identifiers.org/clinvar/214058 ^@ NM_006796.2(AFG3L2):c.2348G>A (p.Arg783Gln) http://identifiers.org/clinvar/214057 ^@ NM_006796.2(AFG3L2):c.2314C>T (p.Leu772Phe) http://identifiers.org/clinvar/214062 ^@ NM_006796.2(AFG3L2):c.2167G>A (p.Val723Met) http://identifiers.org/clinvar/214059 ^@ NM_006796.2(AFG3L2):c.2067_2068delCA (p.Tyr689Terfs) http://identifiers.org/clinvar/214054 ^@ NM_006796.2(AFG3L2):c.1762G>A (p.Ala588Thr) http://identifiers.org/clinvar/214053 ^@ NM_006796.2(AFG3L2):c.1397C>T (p.Pro466Leu) http://identifiers.org/clinvar/214060 ^@ NM_006796.2(AFG3L2):c.848G>A (p.Arg283Gln) http://identifiers.org/clinvar/214049 ^@ NM_006796.2(AFG3L2):c.463G>A (p.Gly155Ser) http://identifiers.org/clinvar/214051 ^@ NM_006796.2(AFG3L2):c.293-14_293-13delTT http://identifiers.org/clinvar/214864 ^@ NM_021074.4(NDUFV2):c.301-3delT http://identifiers.org/clinvar/214865 ^@ NM_021074.4(NDUFV2):c.515T>C (p.Ile172Thr) http://identifiers.org/clinvar/214867 ^@ NM_021074.4(NDUFV2):c.553A>G (p.Met185Val) http://identifiers.org/clinvar/214866 ^@ NM_021074.4(NDUFV2):c.569A>G (p.Asp190Gly) http://identifiers.org/clinvar/214831 ^@ NM_024407.4(NDUFS7):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/214827 ^@ NM_024407.4(NDUFS7):c.54-6C>T http://identifiers.org/clinvar/214834 ^@ NM_024407.4(NDUFS7):c.343C>T (p.Arg115Cys) http://identifiers.org/clinvar/214832 ^@ NM_024407.4(NDUFS7):c.355G>A (p.Val119Ile) http://identifiers.org/clinvar/214828 ^@ NM_024407.4(NDUFS7):c.455+19dupG http://identifiers.org/clinvar/214833 ^@ NM_024407.4(NDUFS7):c.456-16G>A http://identifiers.org/clinvar/214829 ^@ NM_024407.4(NDUFS7):c.544+20G>A http://identifiers.org/clinvar/214830 ^@ NM_024407.4(NDUFS7):c.613C>G (p.Arg205Gly) http://identifiers.org/clinvar/214825 ^@ NM_024407.4(NDUFS7):c.*10C>T http://identifiers.org/clinvar/214826 ^@ NM_024407.4(NDUFS7):c.*16C>T http://identifiers.org/clinvar/214275 ^@ NM_001863.4(COX6B1):c.136G>A (p.Ala46Thr) http://identifiers.org/clinvar/214276 ^@ NM_001863.4(COX6B1):c.247C>T (p.Pro83Ser) http://identifiers.org/clinvar/215134 ^@ NM_001042631.2(SDHAF1):c.4A>C (p.Ser2Arg) http://identifiers.org/clinvar/215135 ^@ NM_001042631.2(SDHAF1):c.143T>A (p.Leu48Gln) http://identifiers.org/clinvar/215115 ^@ NM_017827.3(SARS2):c.1530_1538dupGCTGCCTGG (p.Gly513_Gln514insLeuProGly) http://identifiers.org/clinvar/215113 ^@ NM_017827.3(SARS2):c.1501A>G (p.Ile501Val) http://identifiers.org/clinvar/215112 ^@ NM_017827.3(SARS2):c.796G>A (p.Gly266Arg) http://identifiers.org/clinvar/215116 ^@ NM_017827.3(SARS2):c.634C>G (p.Leu212Val) http://identifiers.org/clinvar/215111 ^@ NM_017827.3(SARS2):c.589+1G>A http://identifiers.org/clinvar/215110 ^@ NM_017827.3(SARS2):c.538G>A (p.Val180Ile) http://identifiers.org/clinvar/215109 ^@ NM_017827.3(SARS2):c.501G>A (p.Ala167=) http://identifiers.org/clinvar/215108 ^@ NM_017827.3(SARS2):c.393+214C>T http://identifiers.org/clinvar/215107 ^@ NM_017827.3(SARS2):c.390G>A (p.Gln130=) http://identifiers.org/clinvar/215106 ^@ NM_017827.3(SARS2):c.364-7C>A http://identifiers.org/clinvar/215102 ^@ NM_017827.3(SARS2):c.310C>T (p.Arg104Trp) http://identifiers.org/clinvar/215105 ^@ NM_017827.3(SARS2):c.136G>A (p.Glu46Lys) http://identifiers.org/clinvar/215104 ^@ NM_017827.3(SARS2):c.91A>G (p.Arg31Gly) http://identifiers.org/clinvar/215114 ^@ NM_017827.3(SARS2):c.30G>A (p.Trp10Ter) http://identifiers.org/clinvar/214325 ^@ NM_014297.4(ETHE1):c.602_603delCA (p.Thr201Serfs) http://identifiers.org/clinvar/214322 ^@ NM_014297.4(ETHE1):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/214321 ^@ NM_014297.4(ETHE1):c.476G>A (p.Arg159His) http://identifiers.org/clinvar/214318 ^@ NM_014297.4(ETHE1):c.340A>T (p.Ile114Phe) http://identifiers.org/clinvar/214324 ^@ NM_014297.4(ETHE1):c.278C>T (p.Ser93Phe) http://identifiers.org/clinvar/214323 ^@ NM_014297.4(ETHE1):c.221dupA (p.Tyr74Terfs) http://identifiers.org/clinvar/214317 ^@ NM_014297.4(ETHE1):c.184G>A (p.Ala62Thr) http://identifiers.org/clinvar/214929 ^@ NM_025136.3(OPA3):c.*24099G>A http://identifiers.org/clinvar/214928 ^@ NM_025136.3(OPA3):c.540G>C (p.Ter180Tyr) http://identifiers.org/clinvar/214926 ^@ NM_025136.3(OPA3):c.532A>G (p.Lys178Glu) http://identifiers.org/clinvar/214925 ^@ NM_025136.3(OPA3):c.508G>A (p.Ala170Thr) http://identifiers.org/clinvar/214924 ^@ NM_025136.3(OPA3):c.424G>T (p.Ala142Ser) http://identifiers.org/clinvar/214923 ^@ NM_025136.3(OPA3):c.423G>C (p.Gln141His) http://identifiers.org/clinvar/214927 ^@ NM_025136.3(OPA3):c.241G>A (p.Ala81Thr) http://identifiers.org/clinvar/214689 ^@ NM_001193375.1(NDUFA11):c.614C>G (p.Ala205Gly) http://identifiers.org/clinvar/214688 ^@ NM_175614.4(NDUFA11):c.*67+1465G>C http://identifiers.org/clinvar/214694 ^@ NM_175614.4(NDUFA11):c.314-2A>G http://identifiers.org/clinvar/214692 ^@ NM_175614.4(NDUFA11):c.311G>T (p.Arg104Leu) http://identifiers.org/clinvar/214691 ^@ NM_175614.4(NDUFA11):c.245A>G (p.Glu82Gly) http://identifiers.org/clinvar/214690 ^@ NM_175614.4(NDUFA11):c.138G>A (p.Pro46=) http://identifiers.org/clinvar/214693 ^@ NM_175614.4(NDUFA11):c.30G>T (p.Trp10Cys) http://identifiers.org/clinvar/215256 ^@ NM_006351.3(TIMM44):c.1307C>T (p.Ala436Val) http://identifiers.org/clinvar/215250 ^@ NM_006351.3(TIMM44):c.1272G>A (p.Ala424=) http://identifiers.org/clinvar/215249 ^@ NM_006351.3(TIMM44):c.580G>A (p.Val194Ile) http://identifiers.org/clinvar/215254 ^@ NM_006351.3(TIMM44):c.400C>T (p.His134Tyr) http://identifiers.org/clinvar/215253 ^@ NM_006351.3(TIMM44):c.313-13G>A http://identifiers.org/clinvar/215252 ^@ NM_006351.3(TIMM44):c.102G>A (p.Ser34=) http://identifiers.org/clinvar/215251 ^@ NM_006351.3(TIMM44):c.58A>G (p.Ser20Gly) http://identifiers.org/clinvar/215257 ^@ NM_006351.3(TIMM44):c.46-8C>A http://identifiers.org/clinvar/215258 ^@ NM_006351.3(TIMM44):c.45+16G>T http://identifiers.org/clinvar/214195 ^@ NM_024120.4(NDUFAF5):c.-1G>C http://identifiers.org/clinvar/214203 ^@ NM_024120.4(NDUFAF5):c.92C>T (p.Ser31Phe) http://identifiers.org/clinvar/214201 ^@ NM_024120.4(NDUFAF5):c.114C>A (p.Ser38Arg) http://identifiers.org/clinvar/214202 ^@ NM_024120.4(NDUFAF5):c.178G>A (p.Ala60Thr) http://identifiers.org/clinvar/214198 ^@ NM_024120.4(NDUFAF5):c.222+8_222+15delCGCGGGGC http://identifiers.org/clinvar/214199 ^@ NM_024120.4(NDUFAF5):c.289G>A (p.Gly97Ser) http://identifiers.org/clinvar/214130 ^@ NM_006886.3(ATP5E):c.11A>C (p.Tyr4Ser) http://identifiers.org/clinvar/214015 ^@ NM_001098.2(ACO2):c.425G>A (p.Arg142Gln) http://identifiers.org/clinvar/214016 ^@ NM_001098.2(ACO2):c.487G>T (p.Val163Leu) http://identifiers.org/clinvar/214017 ^@ NM_001098.2(ACO2):c.684+1G>T http://identifiers.org/clinvar/214018 ^@ NM_001098.2(ACO2):c.719G>C (p.Gly240Ala) http://identifiers.org/clinvar/214014 ^@ NM_001098.2(ACO2):c.951T>A (p.Asn317Lys) http://identifiers.org/clinvar/214021 ^@ NM_001098.2(ACO2):c.1279A>G (p.Ile427Val) http://identifiers.org/clinvar/214024 ^@ NM_001098.2(ACO2):c.1802G>A (p.Gly601Asp) http://identifiers.org/clinvar/214022 ^@ NM_001098.2(ACO2):c.2051G>A (p.Arg684Gln) http://identifiers.org/clinvar/214023 ^@ NM_001098.2(ACO2):c.2292G>C (p.Glu764Asp) http://identifiers.org/clinvar/215292 ^@ NM_018006.4(TRMU):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/215295 ^@ NM_018006.4(TRMU):c.37_48dupGGCGGCGTGGAC (p.Asp16_Ser17insGlyGlyValAsp) http://identifiers.org/clinvar/215291 ^@ NM_018006.4(TRMU):c.118G>C (p.Asp40His) http://identifiers.org/clinvar/215284 ^@ NM_018006.4(TRMU):c.238G>A (p.Asp80Asn) http://identifiers.org/clinvar/215285 ^@ NM_018006.4(TRMU):c.272A>G (p.Lys91Arg) http://identifiers.org/clinvar/215278 ^@ NM_018006.4(TRMU):c.430G>A (p.Val144Ile) http://identifiers.org/clinvar/215279 ^@ NM_018006.4(TRMU):c.469G>A (p.Val157Ile) http://identifiers.org/clinvar/215286 ^@ NM_018006.4(TRMU):c.538G>T (p.Val180Phe) http://identifiers.org/clinvar/215287 ^@ NM_018006.4(TRMU):c.718C>T (p.Arg240Ter) http://identifiers.org/clinvar/215293 ^@ NM_018006.4(TRMU):c.773-12_773-9delGTCT http://identifiers.org/clinvar/215288 ^@ NM_018006.4(TRMU):c.925C>T (p.Arg309Cys) http://identifiers.org/clinvar/215289 ^@ NM_018006.4(TRMU):c.941C>T (p.Ala314Val) http://identifiers.org/clinvar/215294 ^@ NM_018006.4(TRMU):c.954dupC (p.Ala319Argfs) http://identifiers.org/clinvar/215281 ^@ NM_018006.4(TRMU):c.1093A>C (p.Thr365Pro) http://identifiers.org/clinvar/215290 ^@ NM_018006.4(TRMU):c.1106C>T (p.Ala369Val) http://identifiers.org/clinvar/215282 ^@ NM_018006.4(TRMU):c.1125C>A (p.Asp375Glu) http://identifiers.org/clinvar/215283 ^@ NM_018006.4(TRMU):c.1246G>T (p.Gly416Cys) http://identifiers.org/clinvar/215129 ^@ NM_005138.2(SCO2):c.764G>A (p.Arg255Gln) http://identifiers.org/clinvar/215130 ^@ NM_005138.2(SCO2):c.535C>T (p.Arg179Cys) http://identifiers.org/clinvar/215128 ^@ NM_005138.2(SCO2):c.527C>T (p.Ala176Val) http://identifiers.org/clinvar/215133 ^@ NM_005138.2(SCO2):c.517G>A (p.Asp173Asn) http://identifiers.org/clinvar/215127 ^@ NM_005138.2(SCO2):c.378G>A (p.Met126Ile) http://identifiers.org/clinvar/215126 ^@ NM_005138.2(SCO2):c.116C>T (p.Ser39Leu) http://identifiers.org/clinvar/215345 ^@ NM_001953.4(TYMP):c.1439C>G (p.Pro480Arg) http://identifiers.org/clinvar/215341 ^@ NM_001953.4(TYMP):c.1321C>T (p.His441Tyr) http://identifiers.org/clinvar/215340 ^@ NM_001953.4(TYMP):c.1219G>C (p.Gly407Arg) http://identifiers.org/clinvar/215339 ^@ NM_001953.4(TYMP):c.1219G>A (p.Gly407Arg) http://identifiers.org/clinvar/215326 ^@ NM_001953.4(TYMP):c.1170G>C (p.Glu390Asp) http://identifiers.org/clinvar/215344 ^@ NM_001953.4(TYMP):c.1159+5G>A http://identifiers.org/clinvar/215325 ^@ NM_001953.4(TYMP):c.1127G>A (p.Arg376Gln) http://identifiers.org/clinvar/215338 ^@ NM_001953.4(TYMP):c.1087G>A (p.Gly363Arg) http://identifiers.org/clinvar/215324 ^@ NM_001953.4(TYMP):c.929-6_929-3del http://identifiers.org/clinvar/215337 ^@ NM_001953.4(TYMP):c.895C>A (p.Pro299Thr) http://identifiers.org/clinvar/215323 ^@ NM_001953.4(TYMP):c.874C>G (p.Leu292Val) http://identifiers.org/clinvar/215322 ^@ NM_001953.4(TYMP):c.814G>A (p.Ala272Thr) http://identifiers.org/clinvar/215321 ^@ NM_001953.4(TYMP):c.735G>A (p.Gln245=) http://identifiers.org/clinvar/215336 ^@ NM_001953.4(TYMP):c.683C>G (p.Ser228Cys) http://identifiers.org/clinvar/215335 ^@ NM_001953.4(TYMP):c.676G>A (p.Gly226Arg) http://identifiers.org/clinvar/215331 ^@ NM_001953.4(TYMP):c.647-9C>G http://identifiers.org/clinvar/215320 ^@ NM_001953.4(TYMP):c.646+8G>A http://identifiers.org/clinvar/215343 ^@ NM_001953.4(TYMP):c.586G>A (p.Gly196Arg) http://identifiers.org/clinvar/215319 ^@ NM_001953.4(TYMP):c.519G>A (p.Met173Ile) http://identifiers.org/clinvar/215334 ^@ NM_001953.4(TYMP):c.516+2T>A http://identifiers.org/clinvar/215333 ^@ NM_001953.4(TYMP):c.476A>T (p.Glu159Val) http://identifiers.org/clinvar/215332 ^@ NM_001953.4(TYMP):c.437G>A (p.Arg146His) http://identifiers.org/clinvar/215330 ^@ NM_001953.4(TYMP):c.401C>T (p.Ala134Val) http://identifiers.org/clinvar/215329 ^@ NM_001953.4(TYMP):c.358G>A (p.Gly120Ser) http://identifiers.org/clinvar/215328 ^@ NM_001953.4(TYMP):c.281C>T (p.Ala94Val) http://identifiers.org/clinvar/215327 ^@ NM_001953.4(TYMP):c.190G>A (p.Gly64Arg) http://identifiers.org/clinvar/214081 ^@ NM_004208.3(AIFM1):c.1642C>T (p.Pro548Ser) http://identifiers.org/clinvar/214083 ^@ NM_004208.3(AIFM1):c.1184T>G (p.Val395Gly) http://identifiers.org/clinvar/214080 ^@ NM_004208.3(AIFM1):c.1047C>T (p.Ser349=) http://identifiers.org/clinvar/214082 ^@ NM_004208.3(AIFM1):c.452G>A (p.Arg151Gln) http://identifiers.org/clinvar/214085 ^@ NM_004208.3(AIFM1):c.134C>G (p.Pro45Arg) http://identifiers.org/clinvar/214948 ^@ NM_000284.3(PDHA1):c.82C>T (p.Arg28Cys) http://identifiers.org/clinvar/214932 ^@ NM_000284.3(PDHA1):c.97G>C (p.Asp33His) http://identifiers.org/clinvar/214939 ^@ NM_000284.3(PDHA1):c.292-1G>A http://identifiers.org/clinvar/214943 ^@ NM_000284.3(PDHA1):c.463A>T (p.Met155Leu) http://identifiers.org/clinvar/214941 ^@ NM_000284.3(PDHA1):c.506C>T (p.Ala169Val) http://identifiers.org/clinvar/214930 ^@ NM_000284.3(PDHA1):c.604-10C>T http://identifiers.org/clinvar/214933 ^@ NM_000284.3(PDHA1):c.707C>A (p.Ala236Glu) http://identifiers.org/clinvar/214934 ^@ NM_000284.3(PDHA1):c.854A>G (p.Gln285Arg) http://identifiers.org/clinvar/214931 ^@ NM_000284.3(PDHA1):c.899+18G>A http://identifiers.org/clinvar/214935 ^@ NM_000284.3(PDHA1):c.910C>T (p.Arg304Ter) http://identifiers.org/clinvar/214944 ^@ NM_000284.3(PDHA1):c.936_939delTAAG (p.Ser312Argfs) http://identifiers.org/clinvar/214945 ^@ NM_000284.3(PDHA1):c.937_940dupAAGA (p.Ser314Lysfs) http://identifiers.org/clinvar/214949 ^@ NM_000284.3(PDHA1):c.985_998dupCTTGCCAGTGTGGA (p.Glu333Aspfs) http://identifiers.org/clinvar/214946 ^@ NM_000284.3(PDHA1):c.1008+1_1008+27del27 http://identifiers.org/clinvar/214936 ^@ NM_000284.3(PDHA1):c.1132C>T (p.Arg378Cys) http://identifiers.org/clinvar/214937 ^@ NM_000284.3(PDHA1):c.1159A>C (p.Lys387Gln) http://identifiers.org/clinvar/214947 ^@ NM_000284.3(PDHA1):c.1159_1162dupAAGT (p.Ser388Terfs) http://identifiers.org/clinvar/214091 ^@ NM_000032.4(ALAS2):c.1718C>T (p.Ser573Phe) http://identifiers.org/clinvar/214104 ^@ NM_000032.4(ALAS2):c.1699A>G (p.Met567Val) http://identifiers.org/clinvar/214100 ^@ NM_000032.4(ALAS2):c.1676G>C (p.Arg559Pro) http://identifiers.org/clinvar/214090 ^@ NM_000032.4(ALAS2):c.1676G>A (p.Arg559His) http://identifiers.org/clinvar/214089 ^@ NM_000032.4(ALAS2):c.1560C>A (p.Pro520=) http://identifiers.org/clinvar/214088 ^@ NM_000032.4(ALAS2):c.1559C>T (p.Pro520Leu) http://identifiers.org/clinvar/214087 ^@ NM_000032.4(ALAS2):c.1436G>A (p.Arg479Gln) http://identifiers.org/clinvar/214099 ^@ NM_000032.4(ALAS2):c.1355G>A (p.Arg452His) http://identifiers.org/clinvar/214098 ^@ NM_000032.4(ALAS2):c.1318G>C (p.Gly440Arg) http://identifiers.org/clinvar/214097 ^@ NM_000032.4(ALAS2):c.1136T>C (p.Met379Thr) http://identifiers.org/clinvar/214096 ^@ NM_000032.4(ALAS2):c.1093T>C (p.Tyr365His) http://identifiers.org/clinvar/214095 ^@ NM_000032.4(ALAS2):c.606G>A (p.Met202Ile) http://identifiers.org/clinvar/214086 ^@ NM_000032.4(ALAS2):c.577G>A (p.Val193Ile) http://identifiers.org/clinvar/214094 ^@ NM_000032.4(ALAS2):c.224C>T (p.Ser75Leu) http://identifiers.org/clinvar/214093 ^@ NM_000032.4(ALAS2):c.190T>C (p.Ser64Pro) http://identifiers.org/clinvar/214101 ^@ NM_000032.4(ALAS2):c.-15-1731G>A http://identifiers.org/clinvar/384589 ^@ NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) http://identifiers.org/clinvar/378617 ^@ NM_006359.2(SLC9A6):c.-29T>C http://identifiers.org/clinvar/381166 ^@ NM_001001937.1(ATP5A1):c.483+15C>T http://identifiers.org/clinvar/379893 ^@ NM_000425.4(L1CAM):c.2433C>A (p.Tyr811Ter) http://identifiers.org/clinvar/383919 ^@ NM_001001937.1(ATP5A1):c.-48-17C>T http://identifiers.org/clinvar/382301 ^@ NM_000054.4(AVPR2):c.445C>T (p.Arg149Cys) http://identifiers.org/clinvar/383263 ^@ NM_144612.6(LOXHD1):c.6465C>T (p.Arg2155=) http://identifiers.org/clinvar/387471 ^@ NM_006359.2(SLC9A6):c.1255-4T>G http://identifiers.org/clinvar/390490 ^@ NM_001449.4(FHL1):c.-101+10C>G http://identifiers.org/clinvar/390110 ^@ NM_016097.4(IER3IP1):c.-19G>C http://identifiers.org/clinvar/386800 ^@ NM_001449.4(FHL1):c.-26-5C>T http://identifiers.org/clinvar/382523 ^@ NM_005359.5(SMAD4):c.-127-3T>A http://identifiers.org/clinvar/386062 ^@ NM_005334.2(HCFC1):c.6004+14G>A http://identifiers.org/clinvar/390927 ^@ NM_001449.4(FHL1):c.603C>T (p.Thr201=) http://identifiers.org/clinvar/392726 ^@ NM_005334.2(HCFC1):c.4984G>A (p.Val1662Met) http://identifiers.org/clinvar/386087 ^@ NM_005334.2(HCFC1):c.4626G>A (p.Glu1542=) http://identifiers.org/clinvar/391178 ^@ NM_001449.4(FHL1):c.741C>T (p.Asp247=) http://identifiers.org/clinvar/382802 ^@ NM_005334.2(HCFC1):c.4442C>T (p.Thr1481Met) http://identifiers.org/clinvar/389873 ^@ NM_005359.5(SMAD4):c.-28T>C http://identifiers.org/clinvar/379435 ^@ NM_003611.2(OFD1):c.*3A>G http://identifiers.org/clinvar/390056 ^@ NM_002025.3(AFF2):c.340T>C (p.Phe114Leu) http://identifiers.org/clinvar/382253 ^@ NM_002025.3(AFF2):c.896C>T (p.Pro299Leu) http://identifiers.org/clinvar/390404 ^@ NM_005334.2(HCFC1):c.4182G>A (p.Ala1394=) http://identifiers.org/clinvar/380171 ^@ NM_005334.2(HCFC1):c.4068C>T (p.Pro1356=) http://identifiers.org/clinvar/389455 ^@ NM_002025.3(AFF2):c.1460C>T (p.Ser487Phe) http://identifiers.org/clinvar/380485 ^@ NM_005359.5(SMAD4):c.261G>A (p.Arg87=) http://identifiers.org/clinvar/388595 ^@ NM_000252.2(MTM1):c.444+16C>G http://identifiers.org/clinvar/378624 ^@ NM_005359.5(SMAD4):c.411A>G (p.Val137=) http://identifiers.org/clinvar/387262 ^@ NM_005334.2(HCFC1):c.3504C>G (p.Thr1168=) http://identifiers.org/clinvar/382097 ^@ NM_001017980.3(VMA21):c.15T>G (p.Asp5Glu) http://identifiers.org/clinvar/390086 ^@ NM_005334.2(HCFC1):c.3018T>C (p.Pro1006=) http://identifiers.org/clinvar/387505 ^@ NM_002641.3(PIGA):c.879G>A (p.Lys293=) http://identifiers.org/clinvar/387150 ^@ NM_005334.2(HCFC1):c.2643G>A (p.Thr881=) http://identifiers.org/clinvar/391022 ^@ NM_005359.5(SMAD4):c.424+14G>A http://identifiers.org/clinvar/388213 ^@ NM_002641.3(PIGA):c.716-10A>G http://identifiers.org/clinvar/382028 ^@ NM_005334.2(HCFC1):c.1605+20G>T http://identifiers.org/clinvar/382787 ^@ NM_005334.2(HCFC1):c.1445-14C>T http://identifiers.org/clinvar/386385 ^@ NM_002641.3(PIGA):c.273C>T (p.Tyr91=) http://identifiers.org/clinvar/380857 ^@ NM_002641.3(PIGA):c.55C>T (p.Arg19Trp) http://identifiers.org/clinvar/391104 ^@ NM_005359.5(SMAD4):c.486T>C (p.Tyr162=) http://identifiers.org/clinvar/385896 ^@ NM_002641.3(PIGA):c.-63+18C>T http://identifiers.org/clinvar/382274 ^@ NM_004992.3(MECP2):c.1203C>T (p.Ser401=) http://identifiers.org/clinvar/384627 ^@ NM_002641.3(PIGA):c.-91C>G http://identifiers.org/clinvar/380355 ^@ NM_005359.5(SMAD4):c.667+17G>A http://identifiers.org/clinvar/385190 ^@ NM_004992.3(MECP2):c.1179C>T (p.Pro393=) http://identifiers.org/clinvar/382495 ^@ NM_001001344.2(ATP2B3):c.2029G>A (p.Val677Met) http://identifiers.org/clinvar/385191 ^@ NM_001001344.2(ATP2B3):c.2414C>T (p.Ala805Val) http://identifiers.org/clinvar/387518 ^@ NM_005359.5(SMAD4):c.954T>C (p.Pro318=) http://identifiers.org/clinvar/392038 ^@ NM_005359.5(SMAD4):c.955+15A>G http://identifiers.org/clinvar/378123 ^@ NM_004992.3(MECP2):c.1132G>A (p.Ala378Thr) http://identifiers.org/clinvar/380589 ^@ NM_005629.3(SLC6A8):c.87G>C (p.Gly29=) http://identifiers.org/clinvar/385207 ^@ NM_005629.3(SLC6A8):c.459C>T (p.Ala153=) http://identifiers.org/clinvar/387064 ^@ NM_005629.3(SLC6A8):c.644+20G>A http://identifiers.org/clinvar/389876 ^@ NM_005359.5(SMAD4):c.963G>A (p.Glu321=) http://identifiers.org/clinvar/384825 ^@ NM_005359.5(SMAD4):c.1308+9C>A http://identifiers.org/clinvar/384841 ^@ NM_005629.3(SLC6A8):c.645-14C>T http://identifiers.org/clinvar/384750 ^@ NM_004992.3(MECP2):c.907A>G (p.Ile303Val) http://identifiers.org/clinvar/386741 ^@ NM_005629.3(SLC6A8):c.912+19G>A http://identifiers.org/clinvar/379190 ^@ NM_005359.5(SMAD4):c.1492T>C (p.Leu498=) http://identifiers.org/clinvar/380461 ^@ NM_005629.3(SLC6A8):c.1016+10G>A http://identifiers.org/clinvar/386725 ^@ NM_004992.3(MECP2):c.841G>A (p.Ala281Thr) http://identifiers.org/clinvar/386476 ^@ NM_004992.3(MECP2):c.378T>C (p.Asn126=) http://identifiers.org/clinvar/393171 ^@ NM_001083962.1(TCF4):c.1826T>C (p.Leu609Pro) http://identifiers.org/clinvar/387163 ^@ NM_001456.3(FLNA):c.7824G>C (p.Val2608=) http://identifiers.org/clinvar/379434 ^@ NM_005629.3(SLC6A8):c.1020C>T (p.Asp340=) http://identifiers.org/clinvar/379400 ^@ NM_005629.3(SLC6A8):c.1250G>A (p.Ser417Asn) http://identifiers.org/clinvar/379442 ^@ NM_005629.3(SLC6A8):c.1496-18C>T http://identifiers.org/clinvar/387162 ^@ NM_001456.3(FLNA):c.7732+20G>A http://identifiers.org/clinvar/390859 ^@ NM_001456.3(FLNA):c.7732+19C>T http://identifiers.org/clinvar/384385 ^@ NM_005629.3(SLC6A8):c.1632G>C (p.Pro544=) http://identifiers.org/clinvar/377887 ^@ NM_001456.3(FLNA):c.6884-16C>T http://identifiers.org/clinvar/386244 ^@ NM_005629.3(SLC6A8):c.1677C>T (p.Ala559=) http://identifiers.org/clinvar/389336 ^@ NM_001456.3(FLNA):c.6627G>A (p.Lys2209=) http://identifiers.org/clinvar/380691 ^@ NM_001456.3(FLNA):c.5662+13T>C http://identifiers.org/clinvar/378616 ^@ NM_005629.3(SLC6A8):c.1678A>G (p.Met560Val) http://identifiers.org/clinvar/385515 ^@ NM_001456.3(FLNA):c.5169G>A (p.Val1723=) http://identifiers.org/clinvar/378716 ^@ NM_001083962.1(TCF4):c.1545C>T (p.Ser515=) http://identifiers.org/clinvar/392298 ^@ NM_001456.3(FLNA):c.4918G>A (p.Gly1640Arg) http://identifiers.org/clinvar/383494 ^@ NM_005629.3(SLC6A8):c.1767+15C>T http://identifiers.org/clinvar/390016 ^@ NM_001083962.1(TCF4):c.1308G>A (p.Gly436=) http://identifiers.org/clinvar/382503 ^@ NM_001456.3(FLNA):c.4629T>C (p.His1543=) http://identifiers.org/clinvar/380236 ^@ NM_001083962.1(TCF4):c.726G>T (p.Leu242Phe) http://identifiers.org/clinvar/379402 ^@ NM_005629.3(SLC6A8):c.1767+20C>T http://identifiers.org/clinvar/382591 ^@ NM_001083962.1(TCF4):c.594G>T (p.Ser198=) http://identifiers.org/clinvar/386807 ^@ NM_001083962.1(TCF4):c.576C>T (p.Ala192=) http://identifiers.org/clinvar/377885 ^@ NM_001456.3(FLNA):c.3597G>A (p.Ser1199=) http://identifiers.org/clinvar/378711 ^@ NM_001083962.1(TCF4):c.207+13A>G http://identifiers.org/clinvar/383017 ^@ NM_005603.4(ATP8B1):c.2931+12T>C http://identifiers.org/clinvar/385799 ^@ NM_005603.4(ATP8B1):c.2796G>A (p.Leu932=) http://identifiers.org/clinvar/386195 ^@ NM_000033.3(ABCD1):c.100C>T (p.Pro34Ser) http://identifiers.org/clinvar/379897 ^@ NM_000033.3(ABCD1):c.2173G>A (p.Ala725Thr) http://identifiers.org/clinvar/379321 ^@ NM_001456.3(FLNA):c.3573G>A (p.Ala1191=) http://identifiers.org/clinvar/389149 ^@ NM_001456.3(FLNA):c.3459C>T (p.His1153=) http://identifiers.org/clinvar/386032 ^@ NM_005603.4(ATP8B1):c.2664G>T (p.Thr888=) http://identifiers.org/clinvar/389814 ^@ NM_001456.3(FLNA):c.3246G>A (p.Ala1082=) http://identifiers.org/clinvar/382063 ^@ NM_001204526.1(SSR4):c.153C>T (p.Asp51=) http://identifiers.org/clinvar/392922 ^@ NM_000425.4(L1CAM):c.2343C>G (p.Phe781Leu) http://identifiers.org/clinvar/377884 ^@ NM_001456.3(FLNA):c.3153C>T (p.Pro1051=) http://identifiers.org/clinvar/391992 ^@ NM_001456.3(FLNA):c.3148G>A (p.Val1050Met) http://identifiers.org/clinvar/388564 ^@ NM_000425.4(L1CAM):c.523+16C>T http://identifiers.org/clinvar/381740 ^@ NM_005603.4(ATP8B1):c.1286A>C (p.Glu429Ala) http://identifiers.org/clinvar/384166 ^@ NM_001456.3(FLNA):c.1568-19G>A http://identifiers.org/clinvar/381305 ^@ NM_001456.3(FLNA):c.1567+18C>G http://identifiers.org/clinvar/378362 ^@ NM_176787.4(PIGN):c.804G>C (p.Trp268Cys) http://identifiers.org/clinvar/386714 ^@ NM_005334.2(HCFC1):c.6005-12C>T http://identifiers.org/clinvar/380940 ^@ NM_173630.3(RTTN):c.5647+16C>T http://identifiers.org/clinvar/389771 ^@ NM_173630.3(RTTN):c.4877C>T (p.Thr1626Met) http://identifiers.org/clinvar/389016 ^@ NM_005334.2(HCFC1):c.5808C>T (p.Gly1936=) http://identifiers.org/clinvar/388447 ^@ NM_173630.3(RTTN):c.3321G>A (p.Lys1107=) http://identifiers.org/clinvar/385163 ^@ NM_005334.2(HCFC1):c.5751C>T (p.Ser1917=) http://identifiers.org/clinvar/388322 ^@ NM_173630.3(RTTN):c.2481+18G>T http://identifiers.org/clinvar/381147 ^@ NM_001456.3(FLNA):c.1371C>T (p.His457=) http://identifiers.org/clinvar/385626 ^@ NM_173630.3(RTTN):c.578+15G>A http://identifiers.org/clinvar/377790 ^@ NM_001130823.2(DNMT1):c.4503C>T (p.Cys1501=) http://identifiers.org/clinvar/384906 ^@ NM_001456.3(FLNA):c.1038C>T (p.Tyr346=) http://identifiers.org/clinvar/382605 ^@ NM_005334.2(HCFC1):c.5517C>T (p.Asp1839=) http://identifiers.org/clinvar/377789 ^@ NM_001130823.2(DNMT1):c.4294-17C>A http://identifiers.org/clinvar/390258 ^@ NM_005334.2(HCFC1):c.2787C>T (p.Ile929=) http://identifiers.org/clinvar/385021 ^@ NM_005334.2(HCFC1):c.1605+16T>G http://identifiers.org/clinvar/393166 ^@ NM_005334.2(HCFC1):c.1472G>T (p.Gly491Val) http://identifiers.org/clinvar/377880 ^@ NM_001456.3(FLNA):c.987+6G>A http://identifiers.org/clinvar/391377 ^@ NM_005334.2(HCFC1):c.1119A>G (p.Val373=) http://identifiers.org/clinvar/381900 ^@ NM_001456.3(FLNA):c.720+12C>T http://identifiers.org/clinvar/382234 ^@ NM_001130823.2(DNMT1):c.4115+16C>T http://identifiers.org/clinvar/380437 ^@ NM_004992.3(MECP2):c.*16A>G http://identifiers.org/clinvar/378126 ^@ NM_004992.3(MECP2):c.*13C>T http://identifiers.org/clinvar/379164 ^@ NM_004992.3(MECP2):c.1041G>A (p.Lys347=) http://identifiers.org/clinvar/393067 ^@ NM_001456.3(FLNA):c.50C>T (p.Pro17Leu) http://identifiers.org/clinvar/389246 ^@ NM_001456.3(FLNA):c.39A>G (p.Ala13=) http://identifiers.org/clinvar/379603 ^@ NM_001130823.2(DNMT1):c.3807-14C>T http://identifiers.org/clinvar/393013 ^@ NM_001130823.2(DNMT1):c.3283G>A (p.Gly1095Ser) http://identifiers.org/clinvar/387531 ^@ NM_004992.3(MECP2):c.1029G>C (p.Gly343=) http://identifiers.org/clinvar/383324 ^@ NM_001130823.2(DNMT1):c.2382-15G>A http://identifiers.org/clinvar/392929 ^@ NM_001456.3(FLNA):c.-21C>T http://identifiers.org/clinvar/383603 ^@ NM_004992.3(MECP2):c.-95C>G http://identifiers.org/clinvar/381918 ^@ NM_000117.2(EMD):c.400-14A>G http://identifiers.org/clinvar/388339 ^@ NM_001130823.2(DNMT1):c.2010C>T (p.Gly670=) http://identifiers.org/clinvar/389949 ^@ NM_000116.4(TAZ):c.231T>C (p.His77=) http://identifiers.org/clinvar/384833 ^@ NM_001130823.2(DNMT1):c.1896G>A (p.Thr632=) http://identifiers.org/clinvar/380610 ^@ NM_003916.4(AP1S2):c.427-837C>A http://identifiers.org/clinvar/391465 ^@ NM_004992.3(MECP2):c.-203C>G http://identifiers.org/clinvar/386095 ^@ NM_001456.3(FLNA):c.7752G>C (p.Val2584=) http://identifiers.org/clinvar/379053 ^@ NM_003159.2(CDKL5):c.-163+10C>T http://identifiers.org/clinvar/388092 ^@ NM_001130823.2(DNMT1):c.1832+10C>T http://identifiers.org/clinvar/385877 ^@ NM_001456.3(FLNA):c.7733-16A>T http://identifiers.org/clinvar/388367 ^@ NM_001130823.2(DNMT1):c.1707C>T (p.His569=) http://identifiers.org/clinvar/383975 ^@ NM_003159.2(CDKL5):c.590T>G (p.Val197Gly) http://identifiers.org/clinvar/389511 ^@ NM_001130823.2(DNMT1):c.1245T>C (p.Tyr415=) http://identifiers.org/clinvar/383726 ^@ NM_001130823.2(DNMT1):c.1206G>C (p.Leu402=) http://identifiers.org/clinvar/383952 ^@ NM_001456.3(FLNA):c.7329C>T (p.Val2443=) http://identifiers.org/clinvar/385072 ^@ NM_003159.2(CDKL5):c.1526C>T (p.Ala509Val) http://identifiers.org/clinvar/389881 ^@ NM_001130823.2(DNMT1):c.925C>G (p.Leu309Val) http://identifiers.org/clinvar/383079 ^@ NM_001130823.2(DNMT1):c.80+11T>C http://identifiers.org/clinvar/383102 ^@ NM_001130823.2(DNMT1):c.45C>A (p.Val15=) http://identifiers.org/clinvar/377646 ^@ NM_003159.2(CDKL5):c.1548C>T (p.Tyr516=) http://identifiers.org/clinvar/393097 ^@ NM_003159.2(CDKL5):c.1930C>T (p.Leu644Phe) http://identifiers.org/clinvar/392166 ^@ NM_001456.3(FLNA):c.7132+2T>C http://identifiers.org/clinvar/386113 ^@ NM_001130823.2(DNMT1):c.-45C>T http://identifiers.org/clinvar/388336 ^@ NM_003159.2(CDKL5):c.2496+3G>A http://identifiers.org/clinvar/383056 ^@ NM_001031734.3(FDX1L):c.507G>T (p.Leu169=) http://identifiers.org/clinvar/379108 ^@ NM_001456.3(FLNA):c.6637G>A (p.Val2213Met) http://identifiers.org/clinvar/381874 ^@ NM_001031734.3(FDX1L):c.154+12G>C http://identifiers.org/clinvar/392468 ^@ NM_003159.2(CDKL5):c.2573G>A (p.Arg858His) http://identifiers.org/clinvar/386106 ^@ NM_003159.2(CDKL5):c.2797+14C>G http://identifiers.org/clinvar/380037 ^@ NM_001031734.3(FDX1L):c.54A>G (p.Leu18=) http://identifiers.org/clinvar/377649 ^@ NM_003159.2(CDKL5):c.2797+14C>T http://identifiers.org/clinvar/390956 ^@ NM_003159.2(CDKL5):c.2834A>G (p.His945Arg) http://identifiers.org/clinvar/386178 ^@ NM_003159.2(CDKL5):c.2867G>A (p.Arg956His) http://identifiers.org/clinvar/390283 ^@ NM_000292.2(PHKA2):c.1398G>A (p.Ala466=) http://identifiers.org/clinvar/385815 ^@ NM_000292.2(PHKA2):c.1246-12C>T http://identifiers.org/clinvar/377886 ^@ NM_001456.3(FLNA):c.4908C>T (p.Ala1636=) http://identifiers.org/clinvar/391832 ^@ NM_001456.3(FLNA):c.4475-4C>T http://identifiers.org/clinvar/385022 ^@ NM_000292.2(PHKA2):c.1041+10T>C http://identifiers.org/clinvar/388849 ^@ NM_001456.3(FLNA):c.3207+5T>C http://identifiers.org/clinvar/381269 ^@ NM_003331.4(TYK2):c.2670G>C (p.Thr890=) http://identifiers.org/clinvar/381442 ^@ NM_000292.2(PHKA2):c.-24C>T http://identifiers.org/clinvar/378840 ^@ NM_003331.4(TYK2):c.2250C>T (p.Gly750=) http://identifiers.org/clinvar/389797 ^@ NM_003331.4(TYK2):c.1011+20C>T http://identifiers.org/clinvar/378341 ^@ NM_000284.3(PDHA1):c.604-14G>A http://identifiers.org/clinvar/381875 ^@ NM_000284.3(PDHA1):c.693G>A (p.Thr231=) http://identifiers.org/clinvar/378342 ^@ NM_000284.3(PDHA1):c.798A>G (p.Thr266=) http://identifiers.org/clinvar/389358 ^@ NM_001005360.2(DNM2):c.162-12C>T http://identifiers.org/clinvar/385536 ^@ NM_001456.3(FLNA):c.2742C>T (p.Leu914=) http://identifiers.org/clinvar/386036 ^@ NM_001005360.2(DNM2):c.589+17G>T http://identifiers.org/clinvar/384555 ^@ NM_000284.3(PDHA1):c.832G>A (p.Gly278Arg) http://identifiers.org/clinvar/381820 ^@ NM_000284.3(PDHA1):c.861C>T (p.Tyr287=) http://identifiers.org/clinvar/388168 ^@ NM_000284.3(PDHA1):c.1025T>G (p.Val342Gly) http://identifiers.org/clinvar/390661 ^@ NM_004586.2(RPS6KA3):c.617A>G (p.His206Arg) http://identifiers.org/clinvar/391865 ^@ NM_001456.3(FLNA):c.2137-19G>A http://identifiers.org/clinvar/377785 ^@ NM_001005360.2(DNM2):c.1422+9C>T http://identifiers.org/clinvar/386733 ^@ NM_001005360.2(DNM2):c.1449G>A (p.Gln483=) http://identifiers.org/clinvar/392706 ^@ NM_001005360.2(DNM2):c.1557+9A>T http://identifiers.org/clinvar/391984 ^@ NM_001128849.1(SMARCA4):c.2476G>A (p.Ala826Thr) http://identifiers.org/clinvar/392629 ^@ NM_015884.3(MBTPS2):c.1523A>T (p.Asn508Ile) http://identifiers.org/clinvar/389603 ^@ NM_000444.5(PHEX):c.436+19T>G http://identifiers.org/clinvar/379636 ^@ NM_001456.3(FLNA):c.2103C>T (p.His701=) http://identifiers.org/clinvar/390718 ^@ NM_001456.3(FLNA):c.1828+3A>G http://identifiers.org/clinvar/392613 ^@ NM_001128849.1(SMARCA4):c.3070A>G (p.Lys1024Glu) http://identifiers.org/clinvar/385096 ^@ NM_001456.3(FLNA):c.1229-8C>T http://identifiers.org/clinvar/387440 ^@ NM_000444.5(PHEX):c.505G>A (p.Val169Met) http://identifiers.org/clinvar/388626 ^@ NM_001128849.1(SMARCA4):c.4720G>C (p.Glu1574Gln) http://identifiers.org/clinvar/379512 ^@ NM_000455.4(STK11):c.-49A>C http://identifiers.org/clinvar/381680 ^@ NM_000444.5(PHEX):c.565C>T (p.Gln189Ter) http://identifiers.org/clinvar/381681 ^@ NM_000444.5(PHEX):c.849+1G>A http://identifiers.org/clinvar/387617 ^@ NM_000455.4(STK11):c.-48C>G http://identifiers.org/clinvar/386912 ^@ NM_000444.5(PHEX):c.1461T>C (p.His487=) http://identifiers.org/clinvar/385934 ^@ NM_000455.4(STK11):c.-19C>T http://identifiers.org/clinvar/383966 ^@ NM_000444.5(PHEX):c.1739A>G (p.His580Arg) http://identifiers.org/clinvar/385542 ^@ NM_000444.5(PHEX):c.1866T>C (p.Tyr622=) http://identifiers.org/clinvar/391105 ^@ NM_000455.4(STK11):c.48G>A (p.Glu16=) http://identifiers.org/clinvar/392194 ^@ NM_000455.4(STK11):c.267C>T (p.Pro89=) http://identifiers.org/clinvar/388254 ^@ NM_001456.3(FLNA):c.957C>T (p.Tyr319=) http://identifiers.org/clinvar/380386 ^@ NM_001456.3(FLNA):c.861C>T (p.Tyr287=) http://identifiers.org/clinvar/392414 ^@ NM_173495.2(PTCHD1):c.1023A>T (p.Leu341Phe) http://identifiers.org/clinvar/383145 ^@ NM_001456.3(FLNA):c.622+10C>T http://identifiers.org/clinvar/381296 ^@ NM_000455.4(STK11):c.291-14C>T http://identifiers.org/clinvar/385462 ^@ NM_139058.2(ARX):c.811A>G (p.Thr271Ala) http://identifiers.org/clinvar/393094 ^@ NM_001456.3(FLNA):c.425G>T (p.Trp142Leu) http://identifiers.org/clinvar/379899 ^@ NM_000455.4(STK11):c.414A>G (p.Glu138=) http://identifiers.org/clinvar/381207 ^@ NM_001456.3(FLNA):c.-20C>A http://identifiers.org/clinvar/386397 ^@ NM_139058.2(ARX):c.632C>T (p.Pro211Leu) http://identifiers.org/clinvar/381107 ^@ NM_139058.2(ARX):c.-16G>T http://identifiers.org/clinvar/382433 ^@ NM_000455.4(STK11):c.464+15C>T http://identifiers.org/clinvar/379077 ^@ NM_000455.4(STK11):c.734+17C>G http://identifiers.org/clinvar/377879 ^@ NM_001456.3(FLNA):c.-21C>G http://identifiers.org/clinvar/379151 ^@ NM_000455.4(STK11):c.735-9G>C http://identifiers.org/clinvar/379982 ^@ NM_003918.2(GYG2):c.809C>T (p.Ala270Val) http://identifiers.org/clinvar/391207 ^@ NM_003918.2(GYG2):c.892G>A (p.Val298Ile) http://identifiers.org/clinvar/382614 ^@ NM_003918.2(GYG2):c.1117C>T (p.Arg373Cys) http://identifiers.org/clinvar/378277 ^@ NM_000475.4(NR0B1):c.16C>A (p.His6Asn) http://identifiers.org/clinvar/379297 ^@ NM_004006.2(DMD):c.11046+11T>C http://identifiers.org/clinvar/385396 ^@ NM_004006.2(DMD):c.9834G>A (p.Ala3278=) http://identifiers.org/clinvar/387264 ^@ NM_000455.4(STK11):c.738C>T (p.Tyr246=) http://identifiers.org/clinvar/379470 ^@ NM_000455.4(STK11):c.766G>T (p.Glu256Ter) http://identifiers.org/clinvar/390099 ^@ NM_004006.2(DMD):c.9390T>C (p.Cys3130=) http://identifiers.org/clinvar/388552 ^@ NM_000455.4(STK11):c.807G>A (p.Lys269=) http://identifiers.org/clinvar/385264 ^@ NM_000117.2(EMD):c.266-19C>T http://identifiers.org/clinvar/382849 ^@ NM_004006.2(DMD):c.8673G>C (p.Leu2891=) http://identifiers.org/clinvar/393234 ^@ NM_000117.2(EMD):c.419T>A (p.Leu140Ter) http://identifiers.org/clinvar/390835 ^@ NM_004006.2(DMD):c.6439-4A>G http://identifiers.org/clinvar/390847 ^@ NM_004006.2(DMD):c.6143G>A (p.Ser2048Asn) http://identifiers.org/clinvar/378677 ^@ NM_000455.4(STK11):c.837C>T (p.Gly279=) http://identifiers.org/clinvar/392308 ^@ NM_000455.4(STK11):c.869T>C (p.Leu290Pro) http://identifiers.org/clinvar/387951 ^@ NM_004006.2(DMD):c.6118-4A>G http://identifiers.org/clinvar/381563 ^@ NM_000117.2(EMD):c.702C>T (p.Val234=) http://identifiers.org/clinvar/389298 ^@ NM_000116.4(TAZ):c.-37C>T http://identifiers.org/clinvar/383204 ^@ NM_004006.2(DMD):c.5144A>G (p.Asp1715Gly) http://identifiers.org/clinvar/389973 ^@ NM_000455.4(STK11):c.1108+14G>A http://identifiers.org/clinvar/381670 ^@ NM_003639.4(IKBKG):c.502C>T (p.Gln168Ter) http://identifiers.org/clinvar/377974 ^@ NM_003639.4(IKBKG):c.518G>A (p.Arg173Gln) http://identifiers.org/clinvar/388357 ^@ NM_004006.2(DMD):c.3114G>A (p.Glu1038=) http://identifiers.org/clinvar/384195 ^@ NM_000455.4(STK11):c.1108+16G>A http://identifiers.org/clinvar/388597 ^@ NM_004006.2(DMD):c.2572A>T (p.Thr858Ser) http://identifiers.org/clinvar/388200 ^@ NM_004006.2(DMD):c.2061G>T (p.Thr687=) http://identifiers.org/clinvar/393286 ^@ NM_004006.2(DMD):c.1939T>A (p.Phe647Ile) http://identifiers.org/clinvar/386773 ^@ NM_004006.2(DMD):c.1704+20C>T http://identifiers.org/clinvar/386402 ^@ NM_004006.2(DMD):c.1332-11C>T http://identifiers.org/clinvar/387234 ^@ NM_004006.2(DMD):c.1173C>T (p.Ala391=) http://identifiers.org/clinvar/383537 ^@ NM_000455.4(STK11):c.1140T>C (p.Asn380=) http://identifiers.org/clinvar/386220 ^@ NM_004006.2(DMD):c.1006G>A (p.Glu336Lys) http://identifiers.org/clinvar/379736 ^@ NM_001363.4(DKC1):c.1133G>A (p.Arg378Gln) http://identifiers.org/clinvar/377774 ^@ NM_004006.2(DMD):c.832-3C>T http://identifiers.org/clinvar/389222 ^@ NM_003159.2(CDKL5):c.146-19A>G http://identifiers.org/clinvar/390387 ^@ NM_000455.4(STK11):c.*6G>A http://identifiers.org/clinvar/383844 ^@ NM_004006.2(DMD):c.832-17C>T http://identifiers.org/clinvar/383412 ^@ NM_003159.2(CDKL5):c.886A>G (p.Thr296Ala) http://identifiers.org/clinvar/387684 ^@ NM_000455.4(STK11):c.*9G>A http://identifiers.org/clinvar/378682 ^@ NM_000455.4(STK11):c.*16+7C>T http://identifiers.org/clinvar/377648 ^@ NM_003159.2(CDKL5):c.2107C>G (p.Leu703Val) http://identifiers.org/clinvar/381696 ^@ NM_003159.2(CDKL5):c.2909G>A (p.Arg970Gln) http://identifiers.org/clinvar/380178 ^@ NM_000531.5(OTC):c.-365G>A http://identifiers.org/clinvar/384579 ^@ NM_000531.5(OTC):c.114G>A (p.Lys38=) http://identifiers.org/clinvar/390590 ^@ NM_000455.4(STK11):c.*16+19C>T http://identifiers.org/clinvar/378684 ^@ NM_000455.4(STK11):c.*17-13T>A http://identifiers.org/clinvar/389355 ^@ NM_000531.5(OTC):c.717+11T>C http://identifiers.org/clinvar/377651 ^@ NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) http://identifiers.org/clinvar/385816 ^@ NM_000292.2(PHKA2):c.3345G>A (p.Pro1115=) http://identifiers.org/clinvar/382836 ^@ NM_000455.4(STK11):c.*17-6C>T http://identifiers.org/clinvar/385880 ^@ NM_000455.4(STK11):c.*18C>G http://identifiers.org/clinvar/386688 ^@ NM_017745.5(BCOR):c.5072A>C (p.Asp1691Ala) http://identifiers.org/clinvar/387015 ^@ NM_017745.5(BCOR):c.1880A>G (p.Lys627Arg) http://identifiers.org/clinvar/378343 ^@ NM_000284.3(PDHA1):c.999A>C (p.Glu333Asp) http://identifiers.org/clinvar/387991 ^@ NM_000159.3(GCDH):c.285G>A (p.Glu95=) http://identifiers.org/clinvar/378109 ^@ NM_001001671.3(MAP3K15):c.2803C>T (p.Pro935Ser) http://identifiers.org/clinvar/384990 ^@ NM_000159.3(GCDH):c.505+20G>T http://identifiers.org/clinvar/386945 ^@ NM_005765.2(ATP6AP2):c.588+4A>G http://identifiers.org/clinvar/392104 ^@ NM_015884.3(MBTPS2):c.695C>A (p.Ala232Glu) http://identifiers.org/clinvar/391972 ^@ NM_004595.4(SMS):c.661-4G>T http://identifiers.org/clinvar/379350 ^@ NM_000444.5(PHEX):c.1700+1G>T http://identifiers.org/clinvar/384085 ^@ NM_001039590.2(USP9X):c.562A>G (p.Asn188Asp) http://identifiers.org/clinvar/382129 ^@ NM_139058.2(ARX):c.1260T>G (p.Pro420=) http://identifiers.org/clinvar/389919 ^@ NM_001271043.2(NFIX):c.207G>A (p.Leu69=) http://identifiers.org/clinvar/391930 ^@ NM_001271043.2(NFIX):c.1112G>A (p.Arg371Gln) http://identifiers.org/clinvar/386858 ^@ NM_139058.2(ARX):c.663C>T (p.Thr221=) http://identifiers.org/clinvar/384600 ^@ NM_139058.2(ARX):c.644C>A (p.Pro215Gln) http://identifiers.org/clinvar/379128 ^@ NM_139058.2(ARX):c.558G>T (p.Pro186=) http://identifiers.org/clinvar/379981 ^@ NM_003918.2(GYG2):c.19C>T (p.His7Tyr) http://identifiers.org/clinvar/382231 ^@ NM_003688.3(CASK):c.2039+15G>A http://identifiers.org/clinvar/392727 ^@ NM_021140.3(KDM6A):c.1865C>A (p.Thr622Lys) http://identifiers.org/clinvar/391216 ^@ NM_003918.2(GYG2):c.124C>T (p.Leu42=) http://identifiers.org/clinvar/382731 ^@ NM_001127221.1(CACNA1A):c.*577C>A http://identifiers.org/clinvar/387030 ^@ NM_003334.3(UBA1):c.176+18C>T http://identifiers.org/clinvar/381850 ^@ NM_003918.2(GYG2):c.242+17C>T http://identifiers.org/clinvar/389123 ^@ NM_003334.3(UBA1):c.1695C>T (p.Phe565=) http://identifiers.org/clinvar/378420 ^@ NM_005710.2(PQBP1):c.356G>A (p.Arg119His) http://identifiers.org/clinvar/385814 ^@ NM_001042498.2(SLC35A2):c.90G>C (p.Ala30=) http://identifiers.org/clinvar/393198 ^@ NM_001127221.1(CACNA1A):c.6773C>G (p.Ala2258Gly) http://identifiers.org/clinvar/388678 ^@ NM_001127221.1(CACNA1A):c.6772G>A (p.Ala2258Thr) http://identifiers.org/clinvar/380583 ^@ NM_001042498.2(SLC35A2):c.43C>A (p.Pro15Thr) http://identifiers.org/clinvar/387462 ^@ NM_003918.2(GYG2):c.912C>T (p.Arg304=) http://identifiers.org/clinvar/388248 ^@ NM_003918.2(GYG2):c.1232T>C (p.Ile411Thr) http://identifiers.org/clinvar/389642 ^@ NM_001042498.2(SLC35A2):c.-8A>G http://identifiers.org/clinvar/387809 ^@ NM_001127221.1(CACNA1A):c.6633C>G (p.His2211Gln) http://identifiers.org/clinvar/383274 ^@ NM_003918.2(GYG2):c.1370A>G (p.Gln457Arg) http://identifiers.org/clinvar/389772 ^@ NM_007075.3(WDR45):c.933C>T (p.Cys311=) http://identifiers.org/clinvar/383365 ^@ NM_000047.2(ARSE):c.23G>C (p.Cys8Ser) http://identifiers.org/clinvar/391325 ^@ NM_007075.3(WDR45):c.131-7T>C http://identifiers.org/clinvar/379913 ^@ NM_000167.5(GK):c.259+2T>C http://identifiers.org/clinvar/389342 ^@ NM_007075.3(WDR45):c.-363A>T http://identifiers.org/clinvar/380945 ^@ NM_007075.3(WDR45):c.-385G>C http://identifiers.org/clinvar/384373 ^@ NM_001111125.2(IQSEC2):c.3970G>A (p.Ala1324Thr) http://identifiers.org/clinvar/380390 ^@ NM_001127221.1(CACNA1A):c.6604C>T (p.Arg2202Trp) http://identifiers.org/clinvar/389901 ^@ NM_004006.2(DMD):c.8886C>T (p.Pro2962=) http://identifiers.org/clinvar/387047 ^@ NM_004006.2(DMD):c.8348A>G (p.Asn2783Ser) http://identifiers.org/clinvar/383434 ^@ NM_001111125.2(IQSEC2):c.3870T>C (p.Leu1290=) http://identifiers.org/clinvar/387241 ^@ NM_001127221.1(CACNA1A):c.6530-19T>C http://identifiers.org/clinvar/383103 ^@ NM_001111125.2(IQSEC2):c.3015+14G>C http://identifiers.org/clinvar/388968 ^@ NM_004006.2(DMD):c.8027+18T>C http://identifiers.org/clinvar/388052 ^@ NM_001127221.1(CACNA1A):c.6343-19G>A http://identifiers.org/clinvar/390047 ^@ NM_004006.2(DMD):c.7873-6C>A http://identifiers.org/clinvar/388045 ^@ NM_001127221.1(CACNA1A):c.6342+9C>T http://identifiers.org/clinvar/388018 ^@ NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) http://identifiers.org/clinvar/384961 ^@ NM_001111125.2(IQSEC2):c.405G>A (p.Arg135=) http://identifiers.org/clinvar/378628 ^@ NM_006306.3(SMC1A):c.622C>G (p.Arg208Gly) http://identifiers.org/clinvar/390951 ^@ NM_004006.2(DMD):c.6489T>C (p.Asn2163=) http://identifiers.org/clinvar/386127 ^@ NM_000032.4(ALAS2):c.417A>G (p.Gly139=) http://identifiers.org/clinvar/385556 ^@ NM_001127221.1(CACNA1A):c.6193-3C>A http://identifiers.org/clinvar/381284 ^@ NM_000032.4(ALAS2):c.381G>A (p.Gly127=) http://identifiers.org/clinvar/388915 ^@ NM_001127221.1(CACNA1A):c.6072C>T (p.Gly2024=) http://identifiers.org/clinvar/390753 ^@ NM_001127221.1(CACNA1A):c.5943+12G>A http://identifiers.org/clinvar/383721 ^@ NM_015185.2(ARHGEF9):c.1450G>A (p.Asp484Asn) http://identifiers.org/clinvar/387023 ^@ NM_004006.2(DMD):c.6212G>A (p.Arg2071Lys) http://identifiers.org/clinvar/383979 ^@ NM_015185.2(ARHGEF9):c.1197T>A (p.Thr399=) http://identifiers.org/clinvar/383188 ^@ NM_001127221.1(CACNA1A):c.5933G>A (p.Arg1978His) http://identifiers.org/clinvar/390234 ^@ NM_015185.2(ARHGEF9):c.1057-18C>T http://identifiers.org/clinvar/388838 ^@ NM_015185.2(ARHGEF9):c.1039A>C (p.Met347Leu) http://identifiers.org/clinvar/382879 ^@ NM_001127221.1(CACNA1A):c.5843-14G>A http://identifiers.org/clinvar/388020 ^@ NM_015185.2(ARHGEF9):c.927C>A (p.Gly309=) http://identifiers.org/clinvar/386808 ^@ NM_001127221.1(CACNA1A):c.5843-17C>T http://identifiers.org/clinvar/380270 ^@ NM_004006.2(DMD):c.6151C>T (p.Arg2051Trp) http://identifiers.org/clinvar/393178 ^@ NM_004006.2(DMD):c.5872G>T (p.Glu1958Ter) http://identifiers.org/clinvar/385764 ^@ NM_015185.2(ARHGEF9):c.913C>A (p.Leu305Ile) http://identifiers.org/clinvar/385930 ^@ NM_004006.2(DMD):c.3504G>A (p.Glu1168=) http://identifiers.org/clinvar/385131 ^@ NM_015185.2(ARHGEF9):c.864G>A (p.Lys288=) http://identifiers.org/clinvar/387246 ^@ NM_015185.2(ARHGEF9):c.756G>A (p.Gln252=) http://identifiers.org/clinvar/390843 ^@ NM_004006.2(DMD):c.3498A>G (p.Leu1166=) http://identifiers.org/clinvar/385693 ^@ NM_015185.2(ARHGEF9):c.540A>T (p.Ile180=) http://identifiers.org/clinvar/386096 ^@ NM_004006.2(DMD):c.3046C>T (p.Arg1016Trp) http://identifiers.org/clinvar/383105 ^@ NM_001127221.1(CACNA1A):c.5735-8C>T http://identifiers.org/clinvar/387495 ^@ NM_015185.2(ARHGEF9):c.-38A>T http://identifiers.org/clinvar/383312 ^@ NM_004006.2(DMD):c.2526G>A (p.Leu842=) http://identifiers.org/clinvar/389966 ^@ NM_004006.2(DMD):c.2252G>A (p.Arg751Gln) http://identifiers.org/clinvar/390372 ^@ NM_000044.4(AR):c.2258G>T (p.Arg753Leu) http://identifiers.org/clinvar/388592 ^@ NM_004006.2(DMD):c.1869C>G (p.Leu623=) http://identifiers.org/clinvar/387481 ^@ NM_001127221.1(CACNA1A):c.5652C>G (p.Pro1884=) http://identifiers.org/clinvar/391828 ^@ NM_002547.2(OPHN1):c.1747G>A (p.Ala583Thr) http://identifiers.org/clinvar/383371 ^@ NM_001127221.1(CACNA1A):c.5524G>A (p.Ala1842Thr) http://identifiers.org/clinvar/393185 ^@ NM_004006.2(DMD):c.1109A>T (p.Asn370Ile) http://identifiers.org/clinvar/381571 ^@ NM_004006.2(DMD):c.511G>C (p.Ala171Pro) http://identifiers.org/clinvar/391944 ^@ NM_001127221.1(CACNA1A):c.5491G>A (p.Glu1831Lys) http://identifiers.org/clinvar/385831 ^@ NM_004006.2(DMD):c.144G>A (p.Arg48=) http://identifiers.org/clinvar/387570 ^@ NM_001127221.1(CACNA1A):c.5403+15A>C http://identifiers.org/clinvar/389000 ^@ NM_002547.2(OPHN1):c.312+13C>T http://identifiers.org/clinvar/381532 ^@ NM_000206.2(IL2RG):c.467C>T (p.Ala156Val) http://identifiers.org/clinvar/387786 ^@ NM_001127221.1(CACNA1A):c.5271T>C (p.Ala1757=) http://identifiers.org/clinvar/377975 ^@ NM_000206.2(IL2RG):c.260T>C (p.Leu87Pro) http://identifiers.org/clinvar/377773 ^@ NM_004006.2(DMD):c.94-9T>A http://identifiers.org/clinvar/391399 ^@ NM_005120.2(MED12):c.736-4A>G http://identifiers.org/clinvar/382883 ^@ NM_001127221.1(CACNA1A):c.5070+20G>A http://identifiers.org/clinvar/392839 ^@ NM_004006.2(DMD):c.-29T>A http://identifiers.org/clinvar/378128 ^@ NM_005120.2(MED12):c.1167G>A (p.Lys389=) http://identifiers.org/clinvar/390583 ^@ NM_005120.2(MED12):c.1485+6C>T http://identifiers.org/clinvar/389521 ^@ NM_001127221.1(CACNA1A):c.4713G>T (p.Thr1571=) http://identifiers.org/clinvar/388498 ^@ NM_005120.2(MED12):c.1744+4C>T http://identifiers.org/clinvar/383814 ^@ NM_001127221.1(CACNA1A):c.4665C>G (p.Phe1555Leu) http://identifiers.org/clinvar/384047 ^@ NM_005120.2(MED12):c.2056-20C>T http://identifiers.org/clinvar/391131 ^@ NM_005120.2(MED12):c.3577+17T>G http://identifiers.org/clinvar/384839 ^@ NM_001127221.1(CACNA1A):c.4482C>T (p.Tyr1494=) http://identifiers.org/clinvar/383859 ^@ NM_001127221.1(CACNA1A):c.4391+12G>A http://identifiers.org/clinvar/391146 ^@ NM_001034853.1(RPGR):c.565G>A (p.Gly189Arg) http://identifiers.org/clinvar/379829 ^@ NM_001127221.1(CACNA1A):c.4099T>A (p.Phe1367Ile) http://identifiers.org/clinvar/391739 ^@ NM_005120.2(MED12):c.3667G>A (p.Val1223Ile) http://identifiers.org/clinvar/392420 ^@ NM_001127221.1(CACNA1A):c.3993-2A>G http://identifiers.org/clinvar/378129 ^@ NM_005120.2(MED12):c.3843C>T (p.Tyr1281=) http://identifiers.org/clinvar/384614 ^@ NM_001127221.1(CACNA1A):c.3992+13G>T http://identifiers.org/clinvar/387728 ^@ NM_005120.2(MED12):c.4470A>G (p.Lys1490=) http://identifiers.org/clinvar/393193 ^@ NM_001127221.1(CACNA1A):c.3659C>T (p.Pro1220Leu) http://identifiers.org/clinvar/383231 ^@ NM_001127221.1(CACNA1A):c.3460C>G (p.Gln1154Glu) http://identifiers.org/clinvar/384063 ^@ NM_001127221.1(CACNA1A):c.3387G>A (p.Pro1129=) http://identifiers.org/clinvar/382928 ^@ NM_001127221.1(CACNA1A):c.3264C>T (p.His1088=) http://identifiers.org/clinvar/384570 ^@ NM_000531.5(OTC):c.298+9A>G http://identifiers.org/clinvar/392314 ^@ NM_017745.5(BCOR):c.2978G>A (p.Arg993Gln) http://identifiers.org/clinvar/380119 ^@ NM_005120.2(MED12):c.4528-19T>C http://identifiers.org/clinvar/391779 ^@ NM_001127221.1(CACNA1A):c.3046G>A (p.Gly1016Arg) http://identifiers.org/clinvar/390461 ^@ NM_005765.2(ATP6AP2):c.92G>A (p.Arg31Gln) http://identifiers.org/clinvar/380750 ^@ NM_005120.2(MED12):c.5026-12T>A http://identifiers.org/clinvar/389602 ^@ NM_005765.2(ATP6AP2):c.212G>A (p.Arg71His) http://identifiers.org/clinvar/387387 ^@ NM_005120.2(MED12):c.5190G>C (p.Leu1730=) http://identifiers.org/clinvar/392017 ^@ NM_005765.2(ATP6AP2):c.300+19A>C http://identifiers.org/clinvar/385236 ^@ NM_001127221.1(CACNA1A):c.2826G>A (p.Glu942=) http://identifiers.org/clinvar/384173 ^@ NM_005120.2(MED12):c.6409-14C>A http://identifiers.org/clinvar/381891 ^@ NM_201599.2(ZMYM3):c.4056G>A (p.Leu1352=) http://identifiers.org/clinvar/393045 ^@ NM_001039590.2(USP9X):c.367G>T (p.Gly123Trp) http://identifiers.org/clinvar/384654 ^@ NM_001039590.2(USP9X):c.1315-4A>G http://identifiers.org/clinvar/392246 ^@ NM_001145408.1(NONO):c.103C>T (p.Gln35Ter) http://identifiers.org/clinvar/386313 ^@ NM_001193416.2(DDX3X):c.675A>G (p.Gln225=) http://identifiers.org/clinvar/388002 ^@ NM_003688.3(CASK):c.2418C>T (p.His806=) http://identifiers.org/clinvar/387488 ^@ NM_001127221.1(CACNA1A):c.2624C>T (p.Ser875Leu) http://identifiers.org/clinvar/392425 ^@ NM_003688.3(CASK):c.1504-2A>C http://identifiers.org/clinvar/392247 ^@ NM_004606.4(TAF1):c.4757G>A (p.Arg1586Gln) http://identifiers.org/clinvar/383841 ^@ NM_003688.3(CASK):c.493G>C (p.Val165Leu) http://identifiers.org/clinvar/392167 ^@ NM_018486.2(HDAC8):c.1037T>C (p.Leu346Pro) http://identifiers.org/clinvar/385997 ^@ NM_003334.3(UBA1):c.1742-18G>A http://identifiers.org/clinvar/392614 ^@ NM_001127221.1(CACNA1A):c.2295G>C (p.Gln765His) http://identifiers.org/clinvar/390424 ^@ NM_002637.3(PHKA1):c.1140C>T (p.Val380=) http://identifiers.org/clinvar/390337 ^@ NM_001008537.2(KIAA2022):c.3855G>A (p.Leu1285=) http://identifiers.org/clinvar/389858 ^@ NM_001127221.1(CACNA1A):c.2049C>T (p.Gly683=) http://identifiers.org/clinvar/392583 ^@ NM_001127221.1(CACNA1A):c.2025C>T (p.Tyr675=) http://identifiers.org/clinvar/392684 ^@ NM_203475.2(PORCN):c.720-2A>C http://identifiers.org/clinvar/389045 ^@ NM_006579.2(EBP):c.-49T>C http://identifiers.org/clinvar/382684 ^@ NM_001127221.1(CACNA1A):c.1784+18C>A http://identifiers.org/clinvar/389921 ^@ NM_005710.2(PQBP1):c.690C>T (p.Gly230=) http://identifiers.org/clinvar/384253 ^@ NM_004299.4(ABCB7):c.102T>C (p.Val34=) http://identifiers.org/clinvar/388010 ^@ NM_001127221.1(CACNA1A):c.1784+7C>A http://identifiers.org/clinvar/383041 ^@ NM_001042498.2(SLC35A2):c.990C>T (p.Leu330=) http://identifiers.org/clinvar/392307 ^@ NM_001042498.2(SLC35A2):c.236G>T (p.Gly79Val) http://identifiers.org/clinvar/392100 ^@ NM_001042498.2(SLC35A2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/388310 ^@ NM_007075.3(WDR45):c.135C>T (p.His45=) http://identifiers.org/clinvar/381793 ^@ NM_005183.3(CACNA1F):c.2477G>T (p.Gly826Val) http://identifiers.org/clinvar/379473 ^@ NM_020717.3(SHROOM4):c.3645C>G (p.Phe1215Leu) http://identifiers.org/clinvar/392304 ^@ NM_004187.3(KDM5C):c.2623G>A (p.Gly875Ser) http://identifiers.org/clinvar/383467 ^@ NM_000489.4(ATRX):c.6097A>G (p.Ile2033Val) http://identifiers.org/clinvar/384540 ^@ NM_000489.4(ATRX):c.5540A>T (p.Tyr1847Phe) http://identifiers.org/clinvar/390994 ^@ NM_001127221.1(CACNA1A):c.1701C>T (p.Ile567=) http://identifiers.org/clinvar/390783 ^@ NM_000489.4(ATRX):c.5212A>G (p.Ile1738Val) http://identifiers.org/clinvar/388508 ^@ NM_000489.4(ATRX):c.2617G>C (p.Glu873Gln) http://identifiers.org/clinvar/383928 ^@ NM_001111125.2(IQSEC2):c.4206G>A (p.Ala1402=) http://identifiers.org/clinvar/385473 ^@ NM_001111125.2(IQSEC2):c.3451+17C>T http://identifiers.org/clinvar/386701 ^@ NM_000489.4(ATRX):c.847G>A (p.Val283Ile) http://identifiers.org/clinvar/381807 ^@ NM_000489.4(ATRX):c.134-9C>T http://identifiers.org/clinvar/383472 ^@ NM_001111125.2(IQSEC2):c.3277+18G>A http://identifiers.org/clinvar/381408 ^@ NM_001866.2(COX7B):c.48C>A (p.Ser16Arg) http://identifiers.org/clinvar/380487 ^@ NM_001111125.2(IQSEC2):c.2776C>T (p.Arg926Ter) http://identifiers.org/clinvar/388685 ^@ NM_000052.6(ATP7A):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/389058 ^@ NM_001127221.1(CACNA1A):c.1672-17C>T http://identifiers.org/clinvar/377535 ^@ NM_000052.6(ATP7A):c.1009G>A (p.Ala337Thr) http://identifiers.org/clinvar/392582 ^@ NM_001127221.1(CACNA1A):c.1503G>A (p.Thr501=) http://identifiers.org/clinvar/391878 ^@ NM_001111125.2(IQSEC2):c.2206C>T (p.Arg736Trp) http://identifiers.org/clinvar/388524 ^@ NM_000052.6(ATP7A):c.1273C>T (p.Leu425=) http://identifiers.org/clinvar/384172 ^@ NM_001111125.2(IQSEC2):c.837C>T (p.Ser279=) http://identifiers.org/clinvar/392593 ^@ NM_001127221.1(CACNA1A):c.1359C>T (p.Phe453=) http://identifiers.org/clinvar/393123 ^@ NM_006306.3(SMC1A):c.3568A>G (p.Lys1190Glu) http://identifiers.org/clinvar/388532 ^@ NM_000052.6(ATP7A):c.1802C>A (p.Thr601Asn) http://identifiers.org/clinvar/383741 ^@ NM_031407.6(HUWE1):c.12990G>C (p.Arg4330Ser) http://identifiers.org/clinvar/388462 ^@ NM_000052.6(ATP7A):c.1906C>T (p.Arg636Trp) http://identifiers.org/clinvar/389710 ^@ NM_000052.6(ATP7A):c.2353C>A (p.Pro785Thr) http://identifiers.org/clinvar/379239 ^@ NM_031407.6(HUWE1):c.328C>T (p.Arg110Trp) http://identifiers.org/clinvar/388766 ^@ NM_001127221.1(CACNA1A):c.1349-3C>T http://identifiers.org/clinvar/392363 ^@ NM_001127221.1(CACNA1A):c.1105C>T (p.Arg369Trp) http://identifiers.org/clinvar/377536 ^@ NM_000052.6(ATP7A):c.3117G>T (p.Lys1039Asn) http://identifiers.org/clinvar/392875 ^@ NM_020922.4(WNK3):c.4267A>C (p.Ser1423Arg) http://identifiers.org/clinvar/386109 ^@ NM_001127221.1(CACNA1A):c.680T>G (p.Leu227Arg) http://identifiers.org/clinvar/384780 ^@ NM_002625.3(PFKFB1):c.1099-6G>T http://identifiers.org/clinvar/377537 ^@ NM_000052.6(ATP7A):c.3153C>T (p.His1051=) http://identifiers.org/clinvar/390315 ^@ NM_001127221.1(CACNA1A):c.632-18C>A http://identifiers.org/clinvar/383464 ^@ NM_001127221.1(CACNA1A):c.539+20C>T http://identifiers.org/clinvar/393267 ^@ NM_000032.4(ALAS2):c.1693G>C (p.Glu565Gln) http://identifiers.org/clinvar/384338 ^@ NM_153252.4(BRWD3):c.4732G>A (p.Ala1578Thr) http://identifiers.org/clinvar/383289 ^@ NM_000032.4(ALAS2):c.1103G>A (p.Arg368Gln) http://identifiers.org/clinvar/390484 ^@ NM_153252.4(BRWD3):c.2327A>T (p.Asn776Ile) http://identifiers.org/clinvar/383604 ^@ NM_015185.2(ARHGEF9):c.918C>G (p.Asp306Glu) http://identifiers.org/clinvar/384320 ^@ NM_001127221.1(CACNA1A):c.526G>C (p.Val176Leu) http://identifiers.org/clinvar/386980 ^@ NM_001127221.1(CACNA1A):c.458T>C (p.Ile153Thr) http://identifiers.org/clinvar/388876 ^@ NM_153252.4(BRWD3):c.1808G>A (p.Arg603Gln) http://identifiers.org/clinvar/379099 ^@ NM_024407.4(NDUFS7):c.-6G>A http://identifiers.org/clinvar/389215 ^@ NM_153252.4(BRWD3):c.478C>T (p.His160Tyr) http://identifiers.org/clinvar/385871 ^@ NM_015185.2(ARHGEF9):c.795-9T>C http://identifiers.org/clinvar/382859 ^@ NM_153252.4(BRWD3):c.460G>A (p.Gly154Ser) http://identifiers.org/clinvar/389475 ^@ NM_024407.4(NDUFS7):c.138G>A (p.Leu46=) http://identifiers.org/clinvar/379660 ^@ NM_000390.3(CHM):c.1100G>A (p.Arg367Gln) http://identifiers.org/clinvar/378256 ^@ NM_024407.4(NDUFS7):c.146C>G (p.Ala49Gly) http://identifiers.org/clinvar/385107 ^@ NM_015185.2(ARHGEF9):c.561C>T (p.His187=) http://identifiers.org/clinvar/378257 ^@ NM_024407.4(NDUFS7):c.369C>T (p.Ala123=) http://identifiers.org/clinvar/377909 ^@ NM_000156.5(GAMT):c.570+133G>A http://identifiers.org/clinvar/392462 ^@ NM_000156.5(GAMT):c.481A>T (p.Lys161Ter) http://identifiers.org/clinvar/390894 ^@ NM_000156.5(GAMT):c.314G>A (p.Arg105Gln) http://identifiers.org/clinvar/392180 ^@ NM_015185.2(ARHGEF9):c.268T>C (p.Cys90Arg) http://identifiers.org/clinvar/391829 ^@ NM_018684.3(ZC4H2):c.116A>G (p.Glu39Gly) http://identifiers.org/clinvar/380741 ^@ NM_018684.3(ZC4H2):c.54-10C>T http://identifiers.org/clinvar/383499 ^@ NM_133644.3(GTPBP3):c.114G>C (p.Ala38=) http://identifiers.org/clinvar/379975 ^@ NM_133644.3(GTPBP3):c.198A>C (p.Thr66=) http://identifiers.org/clinvar/383292 ^@ NM_133644.3(GTPBP3):c.303T>C (p.Gly101=) http://identifiers.org/clinvar/387914 ^@ NM_133644.3(GTPBP3):c.388+13G>A http://identifiers.org/clinvar/391803 ^@ NM_000044.4(AR):c.2137C>A (p.Leu713Ile) http://identifiers.org/clinvar/379804 ^@ NM_002547.2(OPHN1):c.1246C>T (p.Gln416Ter) http://identifiers.org/clinvar/389195 ^@ NM_133644.3(GTPBP3):c.468C>T (p.Thr156=) http://identifiers.org/clinvar/382188 ^@ NM_133644.3(GTPBP3):c.592-13C>T http://identifiers.org/clinvar/379815 ^@ NM_001399.4(EDA):c.617C>T (p.Pro206Leu) http://identifiers.org/clinvar/379561 ^@ NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys) http://identifiers.org/clinvar/384798 ^@ NM_005120.2(MED12):c.-47A>T http://identifiers.org/clinvar/381576 ^@ NM_000215.3(JAK3):c.349C>T (p.Arg117Cys) http://identifiers.org/clinvar/378127 ^@ NM_005120.2(MED12):c.384A>G (p.Gln128=) http://identifiers.org/clinvar/385575 ^@ NM_005120.2(MED12):c.736-14C>G http://identifiers.org/clinvar/384359 ^@ NM_000215.3(JAK3):c.307C>T (p.Arg103Cys) http://identifiers.org/clinvar/389539 ^@ NM_005120.2(MED12):c.1602G>A (p.Ala534=) http://identifiers.org/clinvar/393111 ^@ NM_005535.2(IL12RB1):c.556T>A (p.Cys186Ser) http://identifiers.org/clinvar/384946 ^@ NM_005120.2(MED12):c.1618-8T>C http://identifiers.org/clinvar/381655 ^@ NM_000095.2(COMP):c.1222G>A (p.Asp408Asn) http://identifiers.org/clinvar/392938 ^@ NM_001492.5(GDF1):c.371G>T (p.Cys124Phe) http://identifiers.org/clinvar/392685 ^@ NM_172231.3(SUGP1):c.1282C>A (p.Pro428Thr) http://identifiers.org/clinvar/381731 ^@ NM_000479.4(AMH):c.35T>G (p.Val12Gly) http://identifiers.org/clinvar/390862 ^@ NM_005120.2(MED12):c.3412C>A (p.Arg1138=) http://identifiers.org/clinvar/390107 ^@ NM_005120.2(MED12):c.4299T>C (p.Ala1433=) http://identifiers.org/clinvar/388680 ^@ NM_005120.2(MED12):c.4950G>A (p.Thr1650=) http://identifiers.org/clinvar/386196 ^@ NM_005120.2(MED12):c.4974C>T (p.Ile1658=) http://identifiers.org/clinvar/379562 ^@ NM_005120.2(MED12):c.5775A>G (p.Ser1925=) http://identifiers.org/clinvar/386016 ^@ NM_001031726.3(C19orf12):c.168G>A (p.Val56=) http://identifiers.org/clinvar/389055 ^@ NM_001037.4(SCN1B):c.41-14T>C http://identifiers.org/clinvar/393124 ^@ NM_000166.5(GJB1):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/386763 ^@ NM_004606.4(TAF1):c.2144T>C (p.Val715Ala) http://identifiers.org/clinvar/381142 ^@ NM_001037.4(SCN1B):c.414C>T (p.Val138=) http://identifiers.org/clinvar/386748 ^@ NM_002637.3(PHKA1):c.3043C>T (p.Arg1015Cys) http://identifiers.org/clinvar/378857 ^@ NM_001083961.1(WDR62):c.390+7C>T http://identifiers.org/clinvar/388017 ^@ NM_001083961.1(WDR62):c.570C>T (p.Ile190=) http://identifiers.org/clinvar/378858 ^@ NM_001083961.1(WDR62):c.699+16T>C http://identifiers.org/clinvar/387666 ^@ NM_001083961.1(WDR62):c.1768+18C>T http://identifiers.org/clinvar/385827 ^@ NM_001083961.1(WDR62):c.1842G>A (p.Ser614=) http://identifiers.org/clinvar/383813 ^@ NM_001083961.1(WDR62):c.1959-20A>G http://identifiers.org/clinvar/386506 ^@ NM_004299.4(ABCB7):c.1953C>G (p.Ala651=) http://identifiers.org/clinvar/381007 ^@ NM_000489.4(ATRX):c.7334T>A (p.Ile2445Asn) http://identifiers.org/clinvar/378859 ^@ NM_001083961.1(WDR62):c.2739+19G>A http://identifiers.org/clinvar/385652 ^@ NM_000489.4(ATRX):c.5722G>T (p.Asp1908Tyr) http://identifiers.org/clinvar/386962 ^@ NM_000540.2(RYR1):c.162G>A (p.Ala54=) http://identifiers.org/clinvar/389431 ^@ NM_000540.2(RYR1):c.957+19G>A http://identifiers.org/clinvar/390478 ^@ NM_000489.4(ATRX):c.1252C>G (p.Arg418Gly) http://identifiers.org/clinvar/390441 ^@ NM_000540.2(RYR1):c.1311C>T (p.Ile437=) http://identifiers.org/clinvar/391590 ^@ NM_000489.4(ATRX):c.729C>G (p.Cys243Trp) http://identifiers.org/clinvar/390799 ^@ NM_000540.2(RYR1):c.3618C>T (p.Asp1206=) http://identifiers.org/clinvar/387600 ^@ NM_000489.4(ATRX):c.631C>T (p.Arg211Cys) http://identifiers.org/clinvar/391862 ^@ NM_000052.6(ATP7A):c.1030A>G (p.Arg344Gly) http://identifiers.org/clinvar/384647 ^@ NM_000540.2(RYR1):c.4620+13C>T http://identifiers.org/clinvar/385977 ^@ NM_000540.2(RYR1):c.6789C>T (p.Ile2263=) http://identifiers.org/clinvar/389461 ^@ NM_000052.6(ATP7A):c.1721C>T (p.Thr574Met) http://identifiers.org/clinvar/390935 ^@ NM_000052.6(ATP7A):c.2241C>T (p.Asp747=) http://identifiers.org/clinvar/386131 ^@ NM_153252.4(BRWD3):c.5237G>A (p.Arg1746Gln) http://identifiers.org/clinvar/379244 ^@ NM_153252.4(BRWD3):c.4757G>A (p.Gly1586Glu) http://identifiers.org/clinvar/393049 ^@ NM_153252.4(BRWD3):c.1792C>G (p.Pro598Ala) http://identifiers.org/clinvar/386958 ^@ NM_000540.2(RYR1):c.7835+16C>T http://identifiers.org/clinvar/384613 ^@ NM_000540.2(RYR1):c.8289C>T (p.His2763=) http://identifiers.org/clinvar/384348 ^@ NM_153252.4(BRWD3):c.1645G>A (p.Glu549Lys) http://identifiers.org/clinvar/379530 ^@ NM_000390.3(CHM):c.1334C>G (p.Ser445Ter) http://identifiers.org/clinvar/382857 ^@ NM_000390.3(CHM):c.49+5G>A http://identifiers.org/clinvar/386203 ^@ NM_000216.3(ANOS1):c.72G>A (p.Ala24=) http://identifiers.org/clinvar/390628 ^@ NM_000540.2(RYR1):c.8692+1G>T http://identifiers.org/clinvar/385637 ^@ NM_000540.2(RYR1):c.11691T>C (p.Asp3897=) http://identifiers.org/clinvar/393121 ^@ NM_000540.2(RYR1):c.11908-2A>T http://identifiers.org/clinvar/382302 ^@ NM_000540.2(RYR1):c.13568A>G (p.Lys4523Arg) http://identifiers.org/clinvar/391773 ^@ NM_000540.2(RYR1):c.14343C>T (p.Phe4781=) http://identifiers.org/clinvar/383178 ^@ NM_004924.5(ACTN4):c.2641G>A (p.Ala881Thr) http://identifiers.org/clinvar/380990 ^@ NM_017827.3(SARS2):c.696C>T (p.Arg232=) http://identifiers.org/clinvar/382975 ^@ NM_017827.3(SARS2):c.534+9C>T http://identifiers.org/clinvar/378496 ^@ NM_017827.3(SARS2):c.364-14C>T http://identifiers.org/clinvar/383489 ^@ NM_017827.3(SARS2):c.-23T>C http://identifiers.org/clinvar/383597 ^@ NM_181882.2(PRX):c.4206C>T (p.Pro1402=) http://identifiers.org/clinvar/389318 ^@ NM_181882.2(PRX):c.4152G>A (p.Ala1384=) http://identifiers.org/clinvar/387796 ^@ NM_181882.2(PRX):c.3775G>A (p.Glu1259Lys) http://identifiers.org/clinvar/389562 ^@ NM_181882.2(PRX):c.3366G>A (p.Gln1122=) http://identifiers.org/clinvar/380125 ^@ NM_181882.2(PRX):c.2494G>C (p.Val832Leu) http://identifiers.org/clinvar/378435 ^@ NM_181882.2(PRX):c.2469G>A (p.Ala823=) http://identifiers.org/clinvar/388104 ^@ NM_181882.2(PRX):c.2307G>A (p.Pro769=) http://identifiers.org/clinvar/388951 ^@ NM_181882.2(PRX):c.354G>A (p.Lys118=) http://identifiers.org/clinvar/386983 ^@ NM_181882.2(PRX):c.27+13G>A http://identifiers.org/clinvar/386527 ^@ NM_003573.2(LTBP4):c.2143G>A (p.Asp715Asn) http://identifiers.org/clinvar/391546 ^@ NM_003573.2(LTBP4):c.2706C>T (p.Asp902=) http://identifiers.org/clinvar/385429 ^@ NM_024876.3(COQ8B):c.*10T>C http://identifiers.org/clinvar/380036 ^@ NM_024876.3(COQ8B):c.1119C>T (p.Phe373=) http://identifiers.org/clinvar/386073 ^@ NM_024876.3(COQ8B):c.1035+13G>C http://identifiers.org/clinvar/380032 ^@ NM_024876.3(COQ8B):c.663G>A (p.Gly221=) http://identifiers.org/clinvar/380507 ^@ NM_024876.3(COQ8B):c.648C>T (p.Ala216=) http://identifiers.org/clinvar/389193 ^@ NM_024876.3(COQ8B):c.597C>T (p.Leu199=) http://identifiers.org/clinvar/380444 ^@ NM_024876.3(COQ8B):c.232C>T (p.Arg78Cys) http://identifiers.org/clinvar/388412 ^@ NM_030662.3(MAP2K2):c.*20G>A http://identifiers.org/clinvar/382115 ^@ NM_030662.3(MAP2K2):c.*14C>T http://identifiers.org/clinvar/386212 ^@ NM_030662.3(MAP2K2):c.706-17C>T http://identifiers.org/clinvar/378107 ^@ NM_030662.3(MAP2K2):c.581-18G>A http://identifiers.org/clinvar/379086 ^@ NM_030662.3(MAP2K2):c.580+14C>T http://identifiers.org/clinvar/378105 ^@ NM_030662.3(MAP2K2):c.450+17C>T http://identifiers.org/clinvar/386150 ^@ NM_030662.3(MAP2K2):c.304-7C>T http://identifiers.org/clinvar/390562 ^@ NM_000709.3(BCKDHA):c.-22C>A http://identifiers.org/clinvar/385661 ^@ NM_000709.3(BCKDHA):c.15C>T (p.Ile5=) http://identifiers.org/clinvar/392392 ^@ NM_000709.3(BCKDHA):c.213C>T (p.Asn71=) http://identifiers.org/clinvar/381845 ^@ NM_000709.3(BCKDHA):c.840C>T (p.Arg280=) http://identifiers.org/clinvar/392890 ^@ NM_152296.4(ATP1A3):c.1123C>T (p.Arg375Cys) http://identifiers.org/clinvar/380937 ^@ NM_005619.4(RTN2):c.792C>A (p.Phe264Leu) http://identifiers.org/clinvar/389425 ^@ NM_005619.4(RTN2):c.171C>T (p.Gly57=) http://identifiers.org/clinvar/381038 ^@ NM_025136.3(OPA3):c.*24137T>G http://identifiers.org/clinvar/379295 ^@ NM_175875.4(SIX5):c.1392G>A (p.Thr464=) http://identifiers.org/clinvar/392946 ^@ NM_175875.4(SIX5):c.43G>C (p.Gly15Arg) http://identifiers.org/clinvar/386525 ^@ NM_005184.3(CALM3):c.-14C>A http://identifiers.org/clinvar/392931 ^@ NM_005184.3(CALM3):c.*19G>A http://identifiers.org/clinvar/387519 ^@ NM_004069.4(AP2S1):c.179G>A (p.Arg60His) http://identifiers.org/clinvar/383492 ^@ NM_002103.4(GYS1):c.1551T>G (p.Ala517=) http://identifiers.org/clinvar/382052 ^@ NM_002103.4(GYS1):c.1176G>A (p.Thr392=) http://identifiers.org/clinvar/386618 ^@ NM_002103.4(GYS1):c.942-20G>A http://identifiers.org/clinvar/391854 ^@ NM_002103.4(GYS1):c.754G>A (p.Ala252Thr) http://identifiers.org/clinvar/393064 ^@ NM_017636.3(TRPM4):c.2912A>G (p.Tyr971Cys) http://identifiers.org/clinvar/379339 ^@ NM_030973.3(MED25):c.597C>A (p.Ala199=) http://identifiers.org/clinvar/378401 ^@ NM_007254.3(PNKP):c.1448+13A>G http://identifiers.org/clinvar/378400 ^@ NM_007254.3(PNKP):c.1298+19C>T http://identifiers.org/clinvar/378399 ^@ NM_007254.3(PNKP):c.1281C>T (p.Asp427=) http://identifiers.org/clinvar/378397 ^@ NM_007254.3(PNKP):c.678G>A (p.Lys226=) http://identifiers.org/clinvar/379057 ^@ NM_007254.3(PNKP):c.243G>A (p.Pro81=) http://identifiers.org/clinvar/379892 ^@ NM_007254.3(PNKP):c.-48T>G http://identifiers.org/clinvar/387895 ^@ NM_002691.3(POLD1):c.-1-4G>C http://identifiers.org/clinvar/389551 ^@ NM_002691.3(POLD1):c.15G>T (p.Arg5=) http://identifiers.org/clinvar/387373 ^@ NM_002691.3(POLD1):c.357C>T (p.Arg119=) http://identifiers.org/clinvar/386323 ^@ NM_002691.3(POLD1):c.555G>A (p.Pro185=) http://identifiers.org/clinvar/390915 ^@ NM_002691.3(POLD1):c.558C>T (p.Ala186=) http://identifiers.org/clinvar/383724 ^@ NM_002691.3(POLD1):c.589+15A>G http://identifiers.org/clinvar/381364 ^@ NM_002691.3(POLD1):c.639C>T (p.Thr213=) http://identifiers.org/clinvar/385309 ^@ NM_002691.3(POLD1):c.663C>A (p.Ala221=) http://identifiers.org/clinvar/388814 ^@ NM_002691.3(POLD1):c.726G>A (p.Ala242=) http://identifiers.org/clinvar/381833 ^@ NM_002691.3(POLD1):c.783C>T (p.Val261=) http://identifiers.org/clinvar/381620 ^@ NM_002691.3(POLD1):c.945C>T (p.Phe315=) http://identifiers.org/clinvar/391501 ^@ NM_002691.3(POLD1):c.957C>T (p.Cys319=) http://identifiers.org/clinvar/390272 ^@ NM_002691.3(POLD1):c.970+11G>A http://identifiers.org/clinvar/380635 ^@ NM_002691.3(POLD1):c.971-12C>T http://identifiers.org/clinvar/383221 ^@ NM_002691.3(POLD1):c.1017G>A (p.Ser339=) http://identifiers.org/clinvar/386104 ^@ NM_002691.3(POLD1):c.1243-13C>T http://identifiers.org/clinvar/382844 ^@ NM_002691.3(POLD1):c.1383+13G>T http://identifiers.org/clinvar/382177 ^@ NM_002691.3(POLD1):c.1596C>T (p.Ala532=) http://identifiers.org/clinvar/386100 ^@ NM_002691.3(POLD1):c.1635C>T (p.Tyr545=) http://identifiers.org/clinvar/385311 ^@ NM_002691.3(POLD1):c.1687-18C>T http://identifiers.org/clinvar/389730 ^@ NM_002691.3(POLD1):c.1695C>T (p.His565=) http://identifiers.org/clinvar/381838 ^@ NM_002691.3(POLD1):c.1775+10C>G http://identifiers.org/clinvar/390386 ^@ NM_002691.3(POLD1):c.1824G>A (p.Pro608=) http://identifiers.org/clinvar/384656 ^@ NM_002691.3(POLD1):c.1842C>T (p.His614=) http://identifiers.org/clinvar/384116 ^@ NM_002691.3(POLD1):c.1863C>T (p.Leu621=) http://identifiers.org/clinvar/384440 ^@ NM_002691.3(POLD1):c.1950A>C (p.Ser650=) http://identifiers.org/clinvar/387265 ^@ NM_002691.3(POLD1):c.1992C>T (p.Leu664=) http://identifiers.org/clinvar/388817 ^@ NM_002691.3(POLD1):c.2136G>A (p.Pro712=) http://identifiers.org/clinvar/387450 ^@ NM_002691.3(POLD1):c.2154+11G>A http://identifiers.org/clinvar/385518 ^@ NM_002691.3(POLD1):c.2193C>T (p.Thr731=) http://identifiers.org/clinvar/385520 ^@ NM_002691.3(POLD1):c.2250+17C>T http://identifiers.org/clinvar/383702 ^@ NM_002691.3(POLD1):c.2374C>T (p.Leu792=) http://identifiers.org/clinvar/390806 ^@ NM_002691.3(POLD1):c.2463C>T (p.His821=) http://identifiers.org/clinvar/387731 ^@ NM_002691.3(POLD1):c.2564+19C>T http://identifiers.org/clinvar/391420 ^@ NM_002691.3(POLD1):c.2772C>T (p.Tyr924=) http://identifiers.org/clinvar/387627 ^@ NM_002691.3(POLD1):c.2787C>T (p.Ala929=) http://identifiers.org/clinvar/389471 ^@ NM_002691.3(POLD1):c.2954-6C>T http://identifiers.org/clinvar/386809 ^@ NM_002691.3(POLD1):c.2967G>T (p.Thr989=) http://identifiers.org/clinvar/389720 ^@ NM_002691.3(POLD1):c.2988G>A (p.Thr996=) http://identifiers.org/clinvar/382307 ^@ NM_002691.3(POLD1):c.3068-13C>T http://identifiers.org/clinvar/388715 ^@ NM_002691.3(POLD1):c.3093C>T (p.Pro1031=) http://identifiers.org/clinvar/380229 ^@ NM_002691.3(POLD1):c.3121-19C>T http://identifiers.org/clinvar/385594 ^@ NM_002691.3(POLD1):c.3121-15C>T http://identifiers.org/clinvar/382418 ^@ NM_001985.2(ETFB):c.597+17C>A http://identifiers.org/clinvar/389849 ^@ NM_024075.4(TSEN34):c.-4-5C>T http://identifiers.org/clinvar/382027 ^@ NM_024075.4(TSEN34):c.786C>T (p.Cys262=) http://identifiers.org/clinvar/381300 ^@ NM_000363.4(TNNI3):c.474G>C (p.Leu158=) http://identifiers.org/clinvar/379863 ^@ NM_175614.4(NDUFA11):c.98-4G>A http://identifiers.org/clinvar/388154 ^@ NM_175614.4(NDUFA11):c.98-14C>T http://identifiers.org/clinvar/393269 ^@ NM_175614.4(NDUFA11):c.97+1G>A http://identifiers.org/clinvar/389715 ^@ NM_000064.3(C3):c.2104C>T (p.Pro702Ser) http://identifiers.org/clinvar/388125 ^@ NM_000064.3(C3):c.1829A>C (p.Lys610Thr) http://identifiers.org/clinvar/381739 ^@ NM_000064.3(C3):c.193A>C (p.Lys65Gln) http://identifiers.org/clinvar/380864 ^@ NM_006702.4(PNPLA6):c.2521-19A>C http://identifiers.org/clinvar/390261 ^@ NM_024120.4(NDUFAF5):c.207C>T (p.Asp69=) http://identifiers.org/clinvar/383054 ^@ NM_024120.4(NDUFAF5):c.597T>C (p.Cys199=) http://identifiers.org/clinvar/380041 ^@ NM_052865.3(MGME1):c.43A>T (p.Ser15Cys) http://identifiers.org/clinvar/380093 ^@ NM_052865.3(MGME1):c.512-6T>C http://identifiers.org/clinvar/382958 ^@ NM_052865.3(MGME1):c.573A>G (p.Glu191=) http://identifiers.org/clinvar/387339 ^@ NM_018993.3(RIN2):c.212G>A (p.Cys71Tyr) http://identifiers.org/clinvar/389384 ^@ NM_018993.3(RIN2):c.1338G>C (p.Arg446=) http://identifiers.org/clinvar/390341 ^@ NM_018993.3(RIN2):c.1464G>A (p.Val488=) http://identifiers.org/clinvar/391266 ^@ NM_018993.3(RIN2):c.1917G>A (p.Leu639=) http://identifiers.org/clinvar/384714 ^@ NM_018993.3(RIN2):c.2001G>A (p.Pro667=) http://identifiers.org/clinvar/388227 ^@ NM_198994.2(TGM6):c.850+5C>G http://identifiers.org/clinvar/383370 ^@ NM_000490.4(AVP):c.329G>A (p.Cys110Tyr) http://identifiers.org/clinvar/382205 ^@ NM_033118.3(MYLK2):c.878+8C>G http://identifiers.org/clinvar/381756 ^@ NM_003098.2(SNTA1):c.*14C>T http://identifiers.org/clinvar/386907 ^@ NM_003098.2(SNTA1):c.847T>C (p.Leu283=) http://identifiers.org/clinvar/378630 ^@ NM_003098.2(SNTA1):c.567A>T (p.Ser189=) http://identifiers.org/clinvar/378629 ^@ NM_003098.2(SNTA1):c.210G>C (p.Pro70=) http://identifiers.org/clinvar/381103 ^@ NM_003098.2(SNTA1):c.129C>T (p.Ser43=) http://identifiers.org/clinvar/388152 ^@ NM_000178.3(GSS):c.1302-3T>C http://identifiers.org/clinvar/384568 ^@ NM_000178.3(GSS):c.-28C>A http://identifiers.org/clinvar/388268 ^@ NM_021100.4(NFS1):c.1201T>C (p.Leu401=) http://identifiers.org/clinvar/387147 ^@ NM_021100.4(NFS1):c.822C>T (p.Pro274=) http://identifiers.org/clinvar/388885 ^@ NM_021100.4(NFS1):c.222T>A (p.Leu74=) http://identifiers.org/clinvar/381976 ^@ NM_020433.4(JPH2):c.1662G>A (p.Pro554=) http://identifiers.org/clinvar/391522 ^@ NM_020433.4(JPH2):c.1431C>T (p.Thr477=) http://identifiers.org/clinvar/392601 ^@ NM_020708.4(SLC12A5):c.1006A>G (p.Thr336Ala) http://identifiers.org/clinvar/392106 ^@ NM_020708.4(SLC12A5):c.1645A>G (p.Ile549Val) http://identifiers.org/clinvar/382501 ^@ NM_030777.3(SLC2A10):c.4+9C>G http://identifiers.org/clinvar/384041 ^@ NM_030777.3(SLC2A10):c.873G>A (p.Val291=) http://identifiers.org/clinvar/390861 ^@ NM_030777.3(SLC2A10):c.948C>T (p.Leu316=) http://identifiers.org/clinvar/390198 ^@ NM_030777.3(SLC2A10):c.1412-3C>T http://identifiers.org/clinvar/387517 ^@ NM_030777.3(SLC2A10):c.1547+19G>A http://identifiers.org/clinvar/379210 ^@ NM_030777.3(SLC2A10):c.*8G>A http://identifiers.org/clinvar/384310 ^@ NM_006420.2(ARFGEF2):c.907+17A>G http://identifiers.org/clinvar/386965 ^@ NM_006420.2(ARFGEF2):c.1958+6T>C http://identifiers.org/clinvar/380665 ^@ NM_006420.2(ARFGEF2):c.2777G>A (p.Arg926Gln) http://identifiers.org/clinvar/392713 ^@ NM_006420.2(ARFGEF2):c.4003G>A (p.Glu1335Lys) http://identifiers.org/clinvar/392753 ^@ NM_006420.2(ARFGEF2):c.4049+18C>T http://identifiers.org/clinvar/383873 ^@ NM_004975.3(KCNB1):c.2115C>T (p.Val705=) http://identifiers.org/clinvar/382943 ^@ NM_004975.3(KCNB1):c.2106G>A (p.Ala702=) http://identifiers.org/clinvar/385555 ^@ NM_004975.3(KCNB1):c.1997C>T (p.Pro666Leu) http://identifiers.org/clinvar/392453 ^@ NM_004975.3(KCNB1):c.1880G>A (p.Arg627Gln) http://identifiers.org/clinvar/386675 ^@ NM_004975.3(KCNB1):c.1821C>T (p.Ser607=) http://identifiers.org/clinvar/384611 ^@ NM_004975.3(KCNB1):c.1788A>T (p.Thr596=) http://identifiers.org/clinvar/382675 ^@ NM_004975.3(KCNB1):c.1734G>C (p.Gly578=) http://identifiers.org/clinvar/385907 ^@ NM_004975.3(KCNB1):c.1389T>A (p.Ile463=) http://identifiers.org/clinvar/383248 ^@ NM_004975.3(KCNB1):c.1182G>A (p.Gly394=) http://identifiers.org/clinvar/387242 ^@ NM_004975.3(KCNB1):c.568-9T>C http://identifiers.org/clinvar/384340 ^@ NM_004975.3(KCNB1):c.546C>T (p.Pro182=) http://identifiers.org/clinvar/383253 ^@ NM_004975.3(KCNB1):c.411C>T (p.Tyr137=) http://identifiers.org/clinvar/392985 ^@ NM_004975.3(KCNB1):c.-13G>A http://identifiers.org/clinvar/387173 ^@ NM_015339.4(ADNP):c.1677C>A (p.His559Gln) http://identifiers.org/clinvar/389878 ^@ NM_015339.4(ADNP):c.1141G>C (p.Gly381Arg) http://identifiers.org/clinvar/393160 ^@ NM_003859.2(DPM1):c.634G>C (p.Glu212Gln) http://identifiers.org/clinvar/389116 ^@ NM_003859.2(DPM1):c.303A>G (p.Ala101=) http://identifiers.org/clinvar/381683 ^@ NM_020436.4(SALL4):c.2491C>T (p.Arg831Ter) http://identifiers.org/clinvar/387718 ^@ NM_020436.4(SALL4):c.950C>T (p.Pro317Leu) http://identifiers.org/clinvar/378431 ^@ NM_144773.3(PROKR2):c.1-49C>A http://identifiers.org/clinvar/391701 ^@ NM_000516.5(GNAS):c.-356-37187C>G http://identifiers.org/clinvar/392186 ^@ NM_000516.5(GNAS):c.319G>C (p.Val107Leu) http://identifiers.org/clinvar/384695 ^@ NM_006886.3(ATP5E):c.-47C>T http://identifiers.org/clinvar/381055 ^@ NM_000744.6(CHRNA4):c.1758+9C>T http://identifiers.org/clinvar/377675 ^@ NM_000744.6(CHRNA4):c.1158C>G (p.Pro386=) http://identifiers.org/clinvar/392260 ^@ NM_000744.6(CHRNA4):c.1050C>T (p.Asp350=) http://identifiers.org/clinvar/377674 ^@ NM_000744.6(CHRNA4):c.783C>T (p.Thr261=) http://identifiers.org/clinvar/378999 ^@ NM_000744.6(CHRNA4):c.570C>T (p.Asp190=) http://identifiers.org/clinvar/377672 ^@ NM_000744.6(CHRNA4):c.384-9C>T http://identifiers.org/clinvar/382663 ^@ NM_000744.6(CHRNA4):c.384-17G>A http://identifiers.org/clinvar/377669 ^@ NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) http://identifiers.org/clinvar/378032 ^@ NM_172107.3(KCNQ2):c.2604C>T (p.Ala868=) http://identifiers.org/clinvar/383321 ^@ NM_172107.3(KCNQ2):c.2331C>T (p.Pro777=) http://identifiers.org/clinvar/379462 ^@ NM_172107.3(KCNQ2):c.1698C>T (p.Asp566=) http://identifiers.org/clinvar/390674 ^@ NM_172107.3(KCNQ2):c.1640G>A (p.Arg547Gln) http://identifiers.org/clinvar/378029 ^@ NM_172107.3(KCNQ2):c.1631+19C>T http://identifiers.org/clinvar/378027 ^@ NM_172107.3(KCNQ2):c.1539C>T (p.Pro513=) http://identifiers.org/clinvar/385129 ^@ NM_172107.3(KCNQ2):c.1209C>G (p.Leu403=) http://identifiers.org/clinvar/378024 ^@ NM_172107.3(KCNQ2):c.861C>G (p.Thr287=) http://identifiers.org/clinvar/390326 ^@ NM_172107.3(KCNQ2):c.833T>A (p.Ile278Asn) http://identifiers.org/clinvar/379357 ^@ NM_172107.3(KCNQ2):c.729C>T (p.Leu243=) http://identifiers.org/clinvar/385716 ^@ NM_172107.3(KCNQ2):c.607C>T (p.Leu203=) http://identifiers.org/clinvar/390521 ^@ NM_172107.3(KCNQ2):c.515-15A>G http://identifiers.org/clinvar/382868 ^@ NM_172107.3(KCNQ2):c.78G>A (p.Gly26=) http://identifiers.org/clinvar/380904 ^@ NM_001958.3(EEF1A2):c.1326G>A (p.Glu442=) http://identifiers.org/clinvar/385722 ^@ NM_001958.3(EEF1A2):c.1302C>A (p.Ala434=) http://identifiers.org/clinvar/385915 ^@ NM_001958.3(EEF1A2):c.1030-10C>A http://identifiers.org/clinvar/387874 ^@ NM_001958.3(EEF1A2):c.1029+11G>A http://identifiers.org/clinvar/387658 ^@ NM_001958.3(EEF1A2):c.773-6C>T http://identifiers.org/clinvar/379689 ^@ NM_001958.3(EEF1A2):c.594T>C (p.Gly198=) http://identifiers.org/clinvar/389234 ^@ NM_001958.3(EEF1A2):c.526G>A (p.Ala176Thr) http://identifiers.org/clinvar/379279 ^@ NM_025219.2(DNAJC5):c.-12+20G>A http://identifiers.org/clinvar/384180 ^@ NM_025219.2(DNAJC5):c.255C>T (p.Tyr85=) http://identifiers.org/clinvar/384526 ^@ NM_025219.2(DNAJC5):c.494-16T>C http://identifiers.org/clinvar/377783 ^@ NM_025219.2(DNAJC5):c.*13C>G http://identifiers.org/clinvar/389305 ^@ NM_025219.2(DNAJC5):c.*18G>A http://identifiers.org/clinvar/377997 ^@ NM_000219.5(KCNE1):c.8T>C (p.Leu3Pro) http://identifiers.org/clinvar/392183 ^@ NM_001754.4(RUNX1):c.1184C>G (p.Pro395Arg) http://identifiers.org/clinvar/379867 ^@ NM_000411.6(HLCS):c.1452-6C>T http://identifiers.org/clinvar/381094 ^@ NM_000411.6(HLCS):c.996+17G>A http://identifiers.org/clinvar/385629 ^@ NM_001396.4(DYRK1A):c.360A>G (p.Gln120=) http://identifiers.org/clinvar/384924 ^@ NM_001396.4(DYRK1A):c.516+12G>A http://identifiers.org/clinvar/385214 ^@ NM_001396.4(DYRK1A):c.952-19A>G http://identifiers.org/clinvar/387648 ^@ NM_001396.4(DYRK1A):c.1392C>A (p.Pro464=) http://identifiers.org/clinvar/387195 ^@ NM_001396.4(DYRK1A):c.1671+101A>G http://identifiers.org/clinvar/390788 ^@ NM_001396.4(DYRK1A):c.1845T>C (p.His615=) http://identifiers.org/clinvar/383331 ^@ NM_001396.4(DYRK1A):c.1998G>C (p.Ser666=) http://identifiers.org/clinvar/384142 ^@ NM_001396.4(DYRK1A):c.2076T>C (p.Phe692=) http://identifiers.org/clinvar/384537 ^@ NM_001396.4(DYRK1A):c.2215A>T (p.Met739Leu) http://identifiers.org/clinvar/381909 ^@ NM_000071.2(CBS):c.954+18C>G http://identifiers.org/clinvar/391512 ^@ NM_000071.2(CBS):c.954+4G>A http://identifiers.org/clinvar/390492 ^@ NM_000071.2(CBS):c.829-3C>T http://identifiers.org/clinvar/384021 ^@ NM_000071.2(CBS):c.736+5G>A http://identifiers.org/clinvar/385090 ^@ NM_000071.2(CBS):c.456C>T (p.Ile152=) http://identifiers.org/clinvar/381374 ^@ NM_000071.2(CBS):c.144T>G (p.Ala48=) http://identifiers.org/clinvar/380734 ^@ NM_000071.2(CBS):c.-9+14G>A http://identifiers.org/clinvar/386806 ^@ NM_000100.3(CSTB):c.183C>T (p.Asp61=) http://identifiers.org/clinvar/381777 ^@ NM_000100.3(CSTB):c.-50C>T http://identifiers.org/clinvar/385562 ^@ NM_000100.3(CSTB):c.-50C>G http://identifiers.org/clinvar/387103 ^@ NM_000383.3(AIRE):c.1095+5G>T http://identifiers.org/clinvar/381672 ^@ NM_000211.4(ITGB2):c.229G>A (p.Asp77Asn) http://identifiers.org/clinvar/391655 ^@ NM_001848.2(COL6A1):c.328C>G (p.Arg110Gly) http://identifiers.org/clinvar/389530 ^@ NM_001848.2(COL6A1):c.1236+14C>T http://identifiers.org/clinvar/387487 ^@ NM_001848.2(COL6A1):c.2220G>T (p.Pro740=) http://identifiers.org/clinvar/382729 ^@ NM_001848.2(COL6A1):c.2250+19G>C http://identifiers.org/clinvar/384609 ^@ NM_001849.3(COL6A2):c.-43G>T http://identifiers.org/clinvar/393219 ^@ NM_001849.3(COL6A2):c.773C>G (p.Ser258Cys) http://identifiers.org/clinvar/389341 ^@ NM_001849.3(COL6A2):c.855+19C>T http://identifiers.org/clinvar/385225 ^@ NM_006031.5(PCNT):c.5323C>G (p.Leu1775Val) http://identifiers.org/clinvar/388206 ^@ NM_006031.5(PCNT):c.5803G>C (p.Val1935Leu) http://identifiers.org/clinvar/385874 ^@ NM_006031.5(PCNT):c.6072C>T (p.Thr2024=) http://identifiers.org/clinvar/390122 ^@ NM_006031.5(PCNT):c.7179+18G>A http://identifiers.org/clinvar/386119 ^@ NM_006031.5(PCNT):c.7413G>A (p.Glu2471=) http://identifiers.org/clinvar/392707 ^@ NM_006031.5(PCNT):c.9163C>A (p.Leu3055Ile) http://identifiers.org/clinvar/380995 ^@ NM_006031.5(PCNT):c.9840-15G>C http://identifiers.org/clinvar/392735 ^@ NM_018943.2(TUBA8):c.902A>G (p.Gln301Arg) http://identifiers.org/clinvar/384770 ^@ NM_005984.4(SLC25A1):c.303-20C>T http://identifiers.org/clinvar/391685 ^@ NM_005984.4(SLC25A1):c.203-13C>T http://identifiers.org/clinvar/385609 ^@ NM_005984.4(SLC25A1):c.95-52G>C http://identifiers.org/clinvar/378586 ^@ NM_005984.4(SLC25A1):c.95-102C>T http://identifiers.org/clinvar/379734 ^@ NM_080647.1(TBX1):c.-39C>T http://identifiers.org/clinvar/387343 ^@ NM_006440.4(TXNRD2):c.1445+18C>T http://identifiers.org/clinvar/386526 ^@ NM_006440.4(TXNRD2):c.1308C>T (p.Phe436=) http://identifiers.org/clinvar/391118 ^@ NM_006440.4(TXNRD2):c.1275+18C>T http://identifiers.org/clinvar/383771 ^@ NM_006440.4(TXNRD2):c.1086+17G>A http://identifiers.org/clinvar/391861 ^@ NM_006440.4(TXNRD2):c.588G>A (p.Thr196=) http://identifiers.org/clinvar/387334 ^@ NM_006440.4(TXNRD2):c.585C>G (p.Pro195=) http://identifiers.org/clinvar/384724 ^@ NM_006440.4(TXNRD2):c.374+13C>T http://identifiers.org/clinvar/391644 ^@ NM_006440.4(TXNRD2):c.64G>A (p.Val22Met) http://identifiers.org/clinvar/392250 ^@ NM_152906.6(TANGO2):c.11T>A (p.Ile4Asn) http://identifiers.org/clinvar/393085 ^@ NM_000185.3(SERPIND1):c.980A>C (p.Gln327Pro) http://identifiers.org/clinvar/390656 ^@ NM_006767.3(LZTR1):c.678A>T (p.Pro226=) http://identifiers.org/clinvar/379759 ^@ NM_006767.3(LZTR1):c.1962C>T (p.Asp654=) http://identifiers.org/clinvar/388704 ^@ NM_003073.4(SMARCB1):c.978C>T (p.Tyr326=) http://identifiers.org/clinvar/392942 ^@ NM_001886.2(CRYBA4):c.137C>A (p.Ser46Tyr) http://identifiers.org/clinvar/387366 ^@ NM_007194.3(CHEK2):c.1521T>C (p.Ala507=) http://identifiers.org/clinvar/377661 ^@ NM_007194.3(CHEK2):c.1518A>G (p.Thr506=) http://identifiers.org/clinvar/386026 ^@ NM_007194.3(CHEK2):c.1461+4G>A http://identifiers.org/clinvar/383005 ^@ NM_007194.3(CHEK2):c.1375+15G>T http://identifiers.org/clinvar/382525 ^@ NM_007194.3(CHEK2):c.1260-18C>T http://identifiers.org/clinvar/388294 ^@ NM_007194.3(CHEK2):c.1259+20C>T http://identifiers.org/clinvar/379018 ^@ NM_007194.3(CHEK2):c.909-18C>T http://identifiers.org/clinvar/388237 ^@ NM_007194.3(CHEK2):c.908+18T>C http://identifiers.org/clinvar/381129 ^@ NM_007194.3(CHEK2):c.908+14T>G http://identifiers.org/clinvar/387953 ^@ NM_007194.3(CHEK2):c.792+19C>G http://identifiers.org/clinvar/386103 ^@ NM_007194.3(CHEK2):c.726A>G (p.Thr242=) http://identifiers.org/clinvar/385844 ^@ NM_007194.3(CHEK2):c.444+16C>T http://identifiers.org/clinvar/385612 ^@ NM_007194.3(CHEK2):c.388C>T (p.Leu130=) http://identifiers.org/clinvar/387279 ^@ NM_007194.3(CHEK2):c.319+7C>T http://identifiers.org/clinvar/383176 ^@ NM_007194.3(CHEK2):c.105C>T (p.Ser35=) http://identifiers.org/clinvar/391081 ^@ NM_007194.3(CHEK2):c.54T>C (p.Cys18=) http://identifiers.org/clinvar/391098 ^@ NM_007194.3(CHEK2):c.-7+11T>C http://identifiers.org/clinvar/377655 ^@ NM_007194.3(CHEK2):c.-17G>A http://identifiers.org/clinvar/381607 ^@ NM_007194.3(CHEK2):c.-40G>C http://identifiers.org/clinvar/380975 ^@ NM_000268.3(NF2):c.947T>G (p.Leu316Trp) http://identifiers.org/clinvar/387098 ^@ NM_001242896.1(DEPDC5):c.4437G>A (p.Arg1479=) http://identifiers.org/clinvar/386898 ^@ NM_004737.5(LARGE1):c.2004G>A (p.Pro668=) http://identifiers.org/clinvar/384484 ^@ NM_004737.5(LARGE1):c.1791C>T (p.Phe597=) http://identifiers.org/clinvar/379184 ^@ NM_004737.5(LARGE1):c.-136T>G http://identifiers.org/clinvar/378216 ^@ NM_002473.5(MYH9):c.2041G>A (p.Gly681Ser) http://identifiers.org/clinvar/379833 ^@ NM_003560.2(PLA2G6):c.1501G>A (p.Glu501Lys) http://identifiers.org/clinvar/386563 ^@ NM_000026.3(ADSL):c.75G>A (p.Glu25=) http://identifiers.org/clinvar/386169 ^@ NM_000026.3(ADSL):c.114A>G (p.Thr38=) http://identifiers.org/clinvar/386952 ^@ NM_000026.3(ADSL):c.153+11C>G http://identifiers.org/clinvar/377450 ^@ NM_000026.3(ADSL):c.567C>T (p.Val189=) http://identifiers.org/clinvar/381551 ^@ NM_000026.3(ADSL):c.1400C>G (p.Pro467Arg) http://identifiers.org/clinvar/383803 ^@ NM_001429.3(EP300):c.4763T>C (p.Met1588Thr) http://identifiers.org/clinvar/377425 ^@ NM_001098.2(ACO2):c.231C>T (p.Pro77=) http://identifiers.org/clinvar/377427 ^@ NM_001098.2(ACO2):c.573T>C (p.Thr191=) http://identifiers.org/clinvar/391241 ^@ NM_001098.2(ACO2):c.836-14C>T http://identifiers.org/clinvar/379298 ^@ NM_001098.2(ACO2):c.2127C>T (p.Phe709=) http://identifiers.org/clinvar/382615 ^@ NM_001098.2(ACO2):c.2136G>A (p.Pro712=) http://identifiers.org/clinvar/391586 ^@ NM_006953.3(UPK3A):c.488+2T>C http://identifiers.org/clinvar/378761 ^@ NM_018006.4(TRMU):c.567C>G (p.Ile189Met) http://identifiers.org/clinvar/378762 ^@ NM_018006.4(TRMU):c.873+12G>A http://identifiers.org/clinvar/377465 ^@ NM_024105.3(ALG12):c.931C>T (p.Arg311Cys) http://identifiers.org/clinvar/380486 ^@ NM_002972.3(SBF1):c.3284-12C>T http://identifiers.org/clinvar/390092 ^@ NM_005138.2(SCO2):c.714G>A (p.Thr238=) http://identifiers.org/clinvar/380677 ^@ NM_005138.2(SCO2):c.-14+9G>A http://identifiers.org/clinvar/384376 ^@ NM_001953.4(TYMP):c.231C>T (p.Ala77=) http://identifiers.org/clinvar/384487 ^@ NM_005198.4(CHKB):c.737-7C>T http://identifiers.org/clinvar/389398 ^@ NM_005198.4(CHKB):c.702G>A (p.Ser234=) http://identifiers.org/clinvar/391040 ^@ NM_005198.4(CHKB):c.581+8A>T http://identifiers.org/clinvar/389435 ^@ NM_005198.4(CHKB):c.219C>T (p.Pro73=) http://identifiers.org/clinvar/392474 ^@ NM_033517.1(SHANK3):c.2453A>C (p.Gln818Pro) http://identifiers.org/clinvar/378325 ^@ NM_001184880.1(PCDH19):c.2358C>T (p.Ile786=) http://identifiers.org/clinvar/392739 ^@ NM_001184880.1(PCDH19):c.2301C>T (p.Tyr767=) http://identifiers.org/clinvar/390462 ^@ NM_001184880.1(PCDH19):c.648G>A (p.Pro216=) http://identifiers.org/clinvar/388526 ^@ NM_001184880.1(PCDH19):c.-47C>T http://identifiers.org/clinvar/390846 ^@ NM_014467.2(SRPX2):c.564C>T (p.His188=) http://identifiers.org/clinvar/378670 ^@ NM_014467.2(SRPX2):c.624G>A (p.Pro208=) http://identifiers.org/clinvar/392607 ^@ NM_000169.2(GLA):c.700G>A (p.Asp234Asn) http://identifiers.org/clinvar/381475 ^@ NM_000169.2(GLA):c.154T>C (p.Cys52Arg) http://identifiers.org/clinvar/391983 ^@ NM_002578.4(PAK3):c.1064C>A (p.Thr355Lys) http://identifiers.org/clinvar/387664 ^@ NM_001099922.2(ALG13):c.-9A>G http://identifiers.org/clinvar/386579 ^@ NM_001099922.2(ALG13):c.74G>A (p.Ser25Asn) http://identifiers.org/clinvar/383826 ^@ NM_001099922.2(ALG13):c.337G>A (p.Ala113Thr) http://identifiers.org/clinvar/385290 ^@ NM_001099922.2(ALG13):c.383+1033G>A http://identifiers.org/clinvar/388212 ^@ NM_001099922.2(ALG13):c.419C>T (p.Ala140Val) http://identifiers.org/clinvar/384889 ^@ NM_001099922.2(ALG13):c.1006-14G>A http://identifiers.org/clinvar/385246 ^@ NM_001099922.2(ALG13):c.1327-19A>G http://identifiers.org/clinvar/389527 ^@ NM_001099922.2(ALG13):c.1349T>C (p.Met450Thr) http://identifiers.org/clinvar/390884 ^@ NM_001099922.2(ALG13):c.1601+11G>A http://identifiers.org/clinvar/388244 ^@ NM_001099922.2(ALG13):c.2070T>C (p.Asp690=) http://identifiers.org/clinvar/391160 ^@ NM_001099922.2(ALG13):c.2973+20T>A http://identifiers.org/clinvar/386253 ^@ NM_001099922.2(ALG13):c.3093A>G (p.Gln1031=) http://identifiers.org/clinvar/391921 ^@ NM_001099922.2(ALG13):c.3297T>A (p.His1099Gln) http://identifiers.org/clinvar/392902 ^@ NM_003336.3(UBE2A):c.126-1G>A http://identifiers.org/clinvar/384722 ^@ NM_080632.2(UPF3B):c.883T>C (p.Leu295=) http://identifiers.org/clinvar/383849 ^@ NM_002294.2(LAMP2):c.1093+17C>T http://identifiers.org/clinvar/380997 ^@ NM_002294.2(LAMP2):c.1093+9C>G http://identifiers.org/clinvar/380410 ^@ NM_002294.2(LAMP2):c.907A>G (p.Met303Val) http://identifiers.org/clinvar/379524 ^@ NM_002294.2(LAMP2):c.74G>A (p.Arg25Gln) http://identifiers.org/clinvar/392208 ^@ NM_002294.2(LAMP2):c.65-20A>T http://identifiers.org/clinvar/388445 ^@ NM_003588.3(CUL4B):c.*7G>A http://identifiers.org/clinvar/382561 ^@ NM_003588.3(CUL4B):c.2215-15T>G http://identifiers.org/clinvar/387403 ^@ NM_003588.3(CUL4B):c.1796-5C>T http://identifiers.org/clinvar/377764 ^@ NM_003588.3(CUL4B):c.1378+15G>A http://identifiers.org/clinvar/391761 ^@ NM_003588.3(CUL4B):c.-48A>G http://identifiers.org/clinvar/383793 ^@ NM_000828.4(GRIA3):c.2408G>A (p.Gly803Glu) http://identifiers.org/clinvar/389451 ^@ NM_001042749.2(STAG2):c.1535-3T>A http://identifiers.org/clinvar/380656 ^@ NM_003399.5(XPNPEP2):c.447T>C (p.Pro149=) http://identifiers.org/clinvar/389843 ^@ NM_021946.4(BCORL1):c.2112G>T (p.Lys704Asn) http://identifiers.org/clinvar/386690 ^@ NM_021946.4(BCORL1):c.2245G>A (p.Glu749Lys) http://identifiers.org/clinvar/377456 ^@ NM_004208.3(AIFM1):c.1644G>A (p.Pro548=) http://identifiers.org/clinvar/383941 ^@ NM_004208.3(AIFM1):c.1120G>A (p.Val374Ile) http://identifiers.org/clinvar/386348 ^@ NM_004208.3(AIFM1):c.474+13T>G http://identifiers.org/clinvar/383667 ^@ NM_004484.3(GPC3):c.667C>T (p.Leu223=) http://identifiers.org/clinvar/389505 ^@ NM_006359.2(SLC9A6):c.153A>G (p.Arg51=) http://identifiers.org/clinvar/379637 ^@ NM_006359.2(SLC9A6):c.960C>T (p.Thr320=) http://identifiers.org/clinvar/381062 ^@ NM_006359.2(SLC9A6):c.1551+10C>T http://identifiers.org/clinvar/386665 ^@ NM_006359.2(SLC9A6):c.*16C>G http://identifiers.org/clinvar/385723 ^@ NM_001449.4(FHL1):c.688+18T>C http://identifiers.org/clinvar/384331 ^@ NM_002025.3(AFF2):c.199C>T (p.Leu67Phe) http://identifiers.org/clinvar/382520 ^@ NM_002025.3(AFF2):c.481C>A (p.Arg161Ser) http://identifiers.org/clinvar/383130 ^@ NM_002641.3(PIGA):c.*7G>T http://identifiers.org/clinvar/389491 ^@ NM_002641.3(PIGA):c.1214C>T (p.Ala405Val) http://identifiers.org/clinvar/391835 ^@ NM_002641.3(PIGA):c.823C>T (p.Arg275Trp) http://identifiers.org/clinvar/384071 ^@ NM_002641.3(PIGA):c.672T>C (p.Asp224=) http://identifiers.org/clinvar/389847 ^@ NM_002641.3(PIGA):c.293A>G (p.Tyr98Cys) http://identifiers.org/clinvar/392740 ^@ NM_002641.3(PIGA):c.96C>G (p.Thr32=) http://identifiers.org/clinvar/382688 ^@ NM_002641.3(PIGA):c.-63+13C>T http://identifiers.org/clinvar/383325 ^@ NM_002641.3(PIGA):c.-63+8C>T http://identifiers.org/clinvar/387901 ^@ NM_001001344.2(ATP2B3):c.1198C>G (p.Arg400Gly) http://identifiers.org/clinvar/392791 ^@ NM_001001344.2(ATP2B3):c.2440G>A (p.Ala814Thr) http://identifiers.org/clinvar/390185 ^@ NM_001001344.2(ATP2B3):c.3533C>A (p.Ser1178Tyr) http://identifiers.org/clinvar/382099 ^@ NM_152274.4(FAM58A):c.616G>T (p.Glu206Ter) http://identifiers.org/clinvar/386861 ^@ NM_005629.3(SLC6A8):c.30C>T (p.Ile10=) http://identifiers.org/clinvar/392671 ^@ NM_005629.3(SLC6A8):c.48C>A (p.Asp16Glu) http://identifiers.org/clinvar/383170 ^@ NM_005629.3(SLC6A8):c.627T>C (p.Pro209=) http://identifiers.org/clinvar/388370 ^@ NM_005629.3(SLC6A8):c.639C>T (p.Phe213=) http://identifiers.org/clinvar/388608 ^@ NM_005629.3(SLC6A8):c.826C>T (p.Leu276=) http://identifiers.org/clinvar/391784 ^@ NM_005629.3(SLC6A8):c.913-17C>G http://identifiers.org/clinvar/379397 ^@ NM_005629.3(SLC6A8):c.951C>T (p.Tyr317=) http://identifiers.org/clinvar/389007 ^@ NM_005629.3(SLC6A8):c.990C>T (p.Tyr330=) http://identifiers.org/clinvar/379399 ^@ NM_005629.3(SLC6A8):c.1016+12C>T http://identifiers.org/clinvar/384631 ^@ NM_005629.3(SLC6A8):c.1281C>T (p.Thr427=) http://identifiers.org/clinvar/382728 ^@ NM_005629.3(SLC6A8):c.1452C>G (p.Leu484=) http://identifiers.org/clinvar/386258 ^@ NM_005629.3(SLC6A8):c.1496-17G>A http://identifiers.org/clinvar/383258 ^@ NM_005629.3(SLC6A8):c.1662G>A (p.Pro554=) http://identifiers.org/clinvar/379403 ^@ NM_005629.3(SLC6A8):c.1830C>T (p.Asp610=) http://identifiers.org/clinvar/385091 ^@ NM_000033.3(ABCD1):c.274G>A (p.Gly92Arg) http://identifiers.org/clinvar/383794 ^@ NM_000033.3(ABCD1):c.392G>T (p.Gly131Val) http://identifiers.org/clinvar/387013 ^@ NM_000033.3(ABCD1):c.2065C>T (p.Arg689Cys) http://identifiers.org/clinvar/387374 ^@ NM_001204526.1(SSR4):c.20-21G>A http://identifiers.org/clinvar/389640 ^@ NM_001204526.1(SSR4):c.243C>T (p.Val81=) http://identifiers.org/clinvar/382519 ^@ NM_000425.4(L1CAM):c.3099C>T (p.Val1033=) http://identifiers.org/clinvar/389778 ^@ NM_000425.4(L1CAM):c.-45T>A http://identifiers.org/clinvar/380554 ^@ NM_005334.2(HCFC1):c.6005-12C>G http://identifiers.org/clinvar/383911 ^@ NM_005334.2(HCFC1):c.5340C>A (p.Thr1780=) http://identifiers.org/clinvar/386061 ^@ NM_005334.2(HCFC1):c.4881G>A (p.Thr1627=) http://identifiers.org/clinvar/385436 ^@ NM_005334.2(HCFC1):c.4725C>T (p.Pro1575=) http://identifiers.org/clinvar/381428 ^@ NM_005334.2(HCFC1):c.4464G>A (p.Thr1488=) http://identifiers.org/clinvar/387453 ^@ NM_005334.2(HCFC1):c.3903C>T (p.Thr1301=) http://identifiers.org/clinvar/389201 ^@ NM_005334.2(HCFC1):c.3757C>T (p.Arg1253Cys) http://identifiers.org/clinvar/387634 ^@ NM_005334.2(HCFC1):c.3255G>A (p.Thr1085=) http://identifiers.org/clinvar/392466 ^@ NM_005334.2(HCFC1):c.2584G>A (p.Val862Ile) http://identifiers.org/clinvar/382057 ^@ NM_005334.2(HCFC1):c.2382C>A (p.Ser794=) http://identifiers.org/clinvar/387461 ^@ NM_005334.2(HCFC1):c.1804-18C>T http://identifiers.org/clinvar/384242 ^@ NM_005334.2(HCFC1):c.1560C>T (p.Pro520=) http://identifiers.org/clinvar/385581 ^@ NM_005334.2(HCFC1):c.1085-16C>G http://identifiers.org/clinvar/378125 ^@ NM_004992.3(MECP2):c.*1C>G http://identifiers.org/clinvar/378124 ^@ NM_004992.3(MECP2):c.1412G>C (p.Arg471Thr) http://identifiers.org/clinvar/378122 ^@ NM_004992.3(MECP2):c.1062C>T (p.Arg354=) http://identifiers.org/clinvar/381111 ^@ NM_004992.3(MECP2):c.717C>A (p.Ala239=) http://identifiers.org/clinvar/379886 ^@ NM_001456.3(FLNA):c.7613A>G (p.Gln2538Arg) http://identifiers.org/clinvar/379175 ^@ NM_001456.3(FLNA):c.6846C>T (p.Asp2282=) http://identifiers.org/clinvar/390791 ^@ NM_001456.3(FLNA):c.4851C>T (p.Thr1617=) http://identifiers.org/clinvar/383848 ^@ NM_001456.3(FLNA):c.4722C>T (p.Asp1574=) http://identifiers.org/clinvar/390189 ^@ NM_001456.3(FLNA):c.4474+15G>T http://identifiers.org/clinvar/384107 ^@ NM_001456.3(FLNA):c.4188C>T (p.Ser1396=) http://identifiers.org/clinvar/392403 ^@ NM_001456.3(FLNA):c.2608C>T (p.His870Tyr) http://identifiers.org/clinvar/390773 ^@ NM_001456.3(FLNA):c.2454C>T (p.Ala818=) http://identifiers.org/clinvar/390772 ^@ NM_001456.3(FLNA):c.2220G>A (p.Pro740=) http://identifiers.org/clinvar/377882 ^@ NM_001456.3(FLNA):c.2022+12G>A http://identifiers.org/clinvar/389570 ^@ NM_001456.3(FLNA):c.1794G>A (p.Val598=) http://identifiers.org/clinvar/387722 ^@ NM_001456.3(FLNA):c.968C>T (p.Pro323Leu) http://identifiers.org/clinvar/383569 ^@ NM_001456.3(FLNA):c.374-18C>G http://identifiers.org/clinvar/382243 ^@ NM_001456.3(FLNA):c.24G>T (p.Ala8=) http://identifiers.org/clinvar/381494 ^@ NM_000117.2(EMD):c.108G>A (p.Lys36=) http://identifiers.org/clinvar/382174 ^@ NM_000117.2(EMD):c.171C>T (p.Ser57=) http://identifiers.org/clinvar/381001 ^@ NM_000117.2(EMD):c.188-18C>G http://identifiers.org/clinvar/383307 ^@ NM_000117.2(EMD):c.188-13C>T http://identifiers.org/clinvar/389820 ^@ NM_000117.2(EMD):c.333C>T (p.Ala111=) http://identifiers.org/clinvar/384418 ^@ NM_000117.2(EMD):c.444G>A (p.Lys148=) http://identifiers.org/clinvar/381564 ^@ NM_000116.4(TAZ):c.110-6C>T http://identifiers.org/clinvar/391565 ^@ NM_001183.5(ATP6AP1):c.831G>T (p.Ala277=) http://identifiers.org/clinvar/381645 ^@ NM_003639.4(IKBKG):c.606G>A (p.Leu202=) http://identifiers.org/clinvar/381561 ^@ NM_000132.3(F8):c.6103G>A (p.Val2035Met) http://identifiers.org/clinvar/393222 ^@ NM_198270.3(NHS):c.886A>G (p.Met296Val) http://identifiers.org/clinvar/393027 ^@ NM_198270.3(NHS):c.4196T>A (p.Leu1399His) http://identifiers.org/clinvar/379694 ^@ NM_003159.2(CDKL5):c.-5T>A http://identifiers.org/clinvar/384383 ^@ NM_003159.2(CDKL5):c.480G>A (p.Leu160=) http://identifiers.org/clinvar/386866 ^@ NM_003159.2(CDKL5):c.681A>G (p.Leu227=) http://identifiers.org/clinvar/382332 ^@ NM_003159.2(CDKL5):c.967T>C (p.Leu323=) http://identifiers.org/clinvar/393255 ^@ NM_003159.2(CDKL5):c.1019G>A (p.Arg340Lys) http://identifiers.org/clinvar/378930 ^@ NM_003159.2(CDKL5):c.2106C>T (p.His702=) http://identifiers.org/clinvar/377650 ^@ NM_003159.2(CDKL5):c.2797+16C>T http://identifiers.org/clinvar/380572 ^@ NM_000292.2(PHKA2):c.3282+13G>A http://identifiers.org/clinvar/382088 ^@ NM_000292.2(PHKA2):c.2568G>T (p.Pro856=) http://identifiers.org/clinvar/385668 ^@ NM_000292.2(PHKA2):c.1635C>G (p.Ile545Met) http://identifiers.org/clinvar/384572 ^@ NM_000292.2(PHKA2):c.963C>T (p.Phe321=) http://identifiers.org/clinvar/390003 ^@ NM_000292.2(PHKA2):c.78+10G>A http://identifiers.org/clinvar/392144 ^@ NM_000284.3(PDHA1):c.-23G>C http://identifiers.org/clinvar/378340 ^@ NM_000284.3(PDHA1):c.510+12C>T http://identifiers.org/clinvar/391985 ^@ NM_004586.2(RPS6KA3):c.1606G>T (p.Val536Phe) http://identifiers.org/clinvar/379241 ^@ NM_004586.2(RPS6KA3):c.204T>G (p.Phe68Leu) http://identifiers.org/clinvar/378358 ^@ NM_000444.5(PHEX):c.436+4A>G http://identifiers.org/clinvar/379848 ^@ NM_000444.5(PHEX):c.1717G>C (p.Ala573Pro) http://identifiers.org/clinvar/392729 ^@ NM_000444.5(PHEX):c.1768+5G>T http://identifiers.org/clinvar/392939 ^@ NM_000444.5(PHEX):c.1900-1G>A http://identifiers.org/clinvar/385683 ^@ NM_139058.2(ARX):c.*2G>C http://identifiers.org/clinvar/390241 ^@ NM_139058.2(ARX):c.1377G>A (p.Pro459=) http://identifiers.org/clinvar/379821 ^@ NM_139058.2(ARX):c.1272G>T (p.Pro424=) http://identifiers.org/clinvar/387828 ^@ NM_139058.2(ARX):c.681G>C (p.Glu227Asp) http://identifiers.org/clinvar/387160 ^@ NM_139058.2(ARX):c.557C>A (p.Pro186Gln) http://identifiers.org/clinvar/388413 ^@ NM_003918.2(GYG2):c.-129+9G>C http://identifiers.org/clinvar/379979 ^@ NM_003918.2(GYG2):c.7+17G>C http://identifiers.org/clinvar/385020 ^@ NM_003918.2(GYG2):c.438G>A (p.Glu146=) http://identifiers.org/clinvar/380092 ^@ NM_003918.2(GYG2):c.651G>A (p.Pro217=) http://identifiers.org/clinvar/383057 ^@ NM_003918.2(GYG2):c.1192C>A (p.Pro398Thr) http://identifiers.org/clinvar/382521 ^@ NM_014271.3(IL1RAPL1):c.911+6T>C http://identifiers.org/clinvar/377776 ^@ NM_004006.2(DMD):c.*15A>G http://identifiers.org/clinvar/386803 ^@ NM_004006.2(DMD):c.10889G>A (p.Arg3630Gln) http://identifiers.org/clinvar/384423 ^@ NM_004006.2(DMD):c.10394+11C>T http://identifiers.org/clinvar/388186 ^@ NM_004006.2(DMD):c.10087-17C>T http://identifiers.org/clinvar/388851 ^@ NM_004006.2(DMD):c.9074A>G (p.Lys3025Arg) http://identifiers.org/clinvar/384897 ^@ NM_004006.2(DMD):c.5949G>A (p.Met1983Ile) http://identifiers.org/clinvar/390924 ^@ NM_004006.2(DMD):c.5109T>C (p.Asp1703=) http://identifiers.org/clinvar/381150 ^@ NM_004006.2(DMD):c.5026-8C>T http://identifiers.org/clinvar/391221 ^@ NM_004006.2(DMD):c.4876G>A (p.Val1626Met) http://identifiers.org/clinvar/391925 ^@ NM_004006.2(DMD):c.4222C>T (p.Gln1408Ter) http://identifiers.org/clinvar/379525 ^@ NM_004006.2(DMD):c.3604-12T>A http://identifiers.org/clinvar/390853 ^@ NM_004006.2(DMD):c.3604-14T>C http://identifiers.org/clinvar/390154 ^@ NM_004006.2(DMD):c.3096C>G (p.Leu1032=) http://identifiers.org/clinvar/390872 ^@ NM_004006.2(DMD):c.2166A>G (p.Lys722=) http://identifiers.org/clinvar/388764 ^@ NM_004006.2(DMD):c.1889C>A (p.Thr630Lys) http://identifiers.org/clinvar/377775 ^@ NM_004006.2(DMD):c.1824G>A (p.Ala608=) http://identifiers.org/clinvar/384552 ^@ NM_004006.2(DMD):c.1548A>T (p.Val516=) http://identifiers.org/clinvar/383271 ^@ NM_004006.2(DMD):c.1176T>C (p.His392=) http://identifiers.org/clinvar/380320 ^@ NM_004006.2(DMD):c.884G>A (p.Arg295Gln) http://identifiers.org/clinvar/379176 ^@ NM_004006.2(DMD):c.832-20C>T http://identifiers.org/clinvar/384364 ^@ NM_000397.3(CYBB):c.1231A>T (p.Ile411Phe) http://identifiers.org/clinvar/382919 ^@ NM_005765.2(ATP6AP2):c.-36C>T http://identifiers.org/clinvar/381141 ^@ NM_005765.2(ATP6AP2):c.397-13A>G http://identifiers.org/clinvar/380358 ^@ NM_005765.2(ATP6AP2):c.922A>C (p.Asn308His) http://identifiers.org/clinvar/384876 ^@ NM_005765.2(ATP6AP2):c.967A>G (p.Ile323Val) http://identifiers.org/clinvar/379452 ^@ NM_021140.3(KDM6A):c.2177C>T (p.Thr726Met) http://identifiers.org/clinvar/387591 ^@ NM_003334.3(UBA1):c.812-4G>A http://identifiers.org/clinvar/391497 ^@ NM_003334.3(UBA1):c.2329G>A (p.Gly777Arg) http://identifiers.org/clinvar/378697 ^@ NM_133499.2(SYN1):c.1026G>A (p.Ala342=) http://identifiers.org/clinvar/379583 ^@ NM_133499.2(SYN1):c.981-19C>T http://identifiers.org/clinvar/385663 ^@ NM_006579.2(EBP):c.-19G>A http://identifiers.org/clinvar/381690 ^@ NM_000377.2(WAS):c.360+1G>A http://identifiers.org/clinvar/390196 ^@ NM_000377.2(WAS):c.1200G>A (p.Pro400=) http://identifiers.org/clinvar/392747 ^@ NM_007075.3(WDR45):c.830+10C>G http://identifiers.org/clinvar/385004 ^@ NM_007075.3(WDR45):c.828C>T (p.Ser276=) http://identifiers.org/clinvar/384351 ^@ NM_007075.3(WDR45):c.439+5G>A http://identifiers.org/clinvar/383865 ^@ NM_007075.3(WDR45):c.130+13C>T http://identifiers.org/clinvar/385444 ^@ NM_007075.3(WDR45):c.56-12T>A http://identifiers.org/clinvar/390619 ^@ NM_005183.3(CACNA1F):c.2699G>A (p.Arg900His) http://identifiers.org/clinvar/391811 ^@ NM_005183.3(CACNA1F):c.91G>A (p.Gly31Arg) http://identifiers.org/clinvar/393115 ^@ NM_014008.4(CCDC22):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/391601 ^@ NM_004187.3(KDM5C):c.3019C>T (p.Arg1007Cys) http://identifiers.org/clinvar/384399 ^@ NM_001111125.2(IQSEC2):c.*13G>C http://identifiers.org/clinvar/383534 ^@ NM_001111125.2(IQSEC2):c.2983C>T (p.Arg995Trp) http://identifiers.org/clinvar/386162 ^@ NM_001111125.2(IQSEC2):c.2847C>T (p.Ser949=) http://identifiers.org/clinvar/385701 ^@ NM_001111125.2(IQSEC2):c.2459+19G>A http://identifiers.org/clinvar/382734 ^@ NM_001111125.2(IQSEC2):c.2297+14G>A http://identifiers.org/clinvar/388385 ^@ NM_001111125.2(IQSEC2):c.2175G>A (p.Pro725=) http://identifiers.org/clinvar/390121 ^@ NM_001111125.2(IQSEC2):c.1449G>A (p.Pro483=) http://identifiers.org/clinvar/392522 ^@ NM_001111125.2(IQSEC2):c.1402-10C>A http://identifiers.org/clinvar/379876 ^@ NM_001111125.2(IQSEC2):c.578G>C (p.Gly193Ala) http://identifiers.org/clinvar/391469 ^@ NM_001111125.2(IQSEC2):c.234C>G (p.Gly78=) http://identifiers.org/clinvar/383983 ^@ NM_001111125.2(IQSEC2):c.188A>G (p.Glu63Gly) http://identifiers.org/clinvar/382662 ^@ NM_001111125.2(IQSEC2):c.84C>T (p.Asn28=) http://identifiers.org/clinvar/383795 ^@ NM_031407.6(HUWE1):c.6664G>T (p.Val2222Phe) http://identifiers.org/clinvar/391259 ^@ NM_031407.6(HUWE1):c.5984C>T (p.Thr1995Met) http://identifiers.org/clinvar/389419 ^@ NM_031407.6(HUWE1):c.2262-8C>T http://identifiers.org/clinvar/383949 ^@ NM_031407.6(HUWE1):c.314A>T (p.Glu105Val) http://identifiers.org/clinvar/381509 ^@ NM_000032.4(ALAS2):c.1395C>T (p.Gly465=) http://identifiers.org/clinvar/387592 ^@ NM_000032.4(ALAS2):c.1160G>C (p.Gly387Ala) http://identifiers.org/clinvar/387958 ^@ NM_000032.4(ALAS2):c.1003+4T>C http://identifiers.org/clinvar/392108 ^@ NM_000032.4(ALAS2):c.278A>G (p.Gln93Arg) http://identifiers.org/clinvar/392869 ^@ NM_020742.3(NLGN4X):c.281C>T (p.Pro94Leu) http://identifiers.org/clinvar/383126 ^@ NM_015185.2(ARHGEF9):c.*7C>G http://identifiers.org/clinvar/384539 ^@ NM_015185.2(ARHGEF9):c.928G>A (p.Glu310Lys) http://identifiers.org/clinvar/384100 ^@ NM_015185.2(ARHGEF9):c.925-16C>T http://identifiers.org/clinvar/384751 ^@ NM_031206.4(LAS1L):c.2047C>T (p.Gln683Ter) http://identifiers.org/clinvar/377498 ^@ NM_000044.4(AR):c.654C>T (p.Pro218=) http://identifiers.org/clinvar/381643 ^@ NM_000044.4(AR):c.1720G>C (p.Ala574Pro) http://identifiers.org/clinvar/378314 ^@ NM_002547.2(OPHN1):c.2362C>T (p.Arg788Trp) http://identifiers.org/clinvar/378313 ^@ NM_002547.2(OPHN1):c.832+16G>A http://identifiers.org/clinvar/381658 ^@ NM_001399.4(EDA):c.494G>C (p.Gly165Ala) http://identifiers.org/clinvar/383831 ^@ NM_005120.2(MED12):c.27C>T (p.Tyr9=) http://identifiers.org/clinvar/384545 ^@ NM_005120.2(MED12):c.93G>C (p.Gln31His) http://identifiers.org/clinvar/386340 ^@ NM_005120.2(MED12):c.111G>A (p.Thr37=) http://identifiers.org/clinvar/386084 ^@ NM_005120.2(MED12):c.204+13T>G http://identifiers.org/clinvar/380476 ^@ NM_005120.2(MED12):c.1348+18G>A http://identifiers.org/clinvar/383303 ^@ NM_005120.2(MED12):c.3516C>G (p.Thr1172=) http://identifiers.org/clinvar/391402 ^@ NM_005120.2(MED12):c.5805C>T (p.Ser1935=) http://identifiers.org/clinvar/388068 ^@ NM_005120.2(MED12):c.6044+16G>C http://identifiers.org/clinvar/383147 ^@ NM_005120.2(MED12):c.6072A>T (p.Thr2024=) http://identifiers.org/clinvar/392008 ^@ NM_005120.2(MED12):c.6267+20T>C http://identifiers.org/clinvar/385522 ^@ NM_005120.2(MED12):c.6408+16C>T http://identifiers.org/clinvar/379903 ^@ NM_000166.5(GJB1):c.*15C>T http://identifiers.org/clinvar/390638 ^@ NM_004606.4(TAF1):c.488C>T (p.Pro163Leu) http://identifiers.org/clinvar/393215 ^@ NM_002637.3(PHKA1):c.2335C>A (p.Gln779Lys) http://identifiers.org/clinvar/384382 ^@ NM_002637.3(PHKA1):c.2179C>T (p.Arg727Trp) http://identifiers.org/clinvar/389415 ^@ NM_002637.3(PHKA1):c.2137+12C>T http://identifiers.org/clinvar/385184 ^@ NM_001008537.2(KIAA2022):c.1824A>G (p.Gln608=) http://identifiers.org/clinvar/388474 ^@ NM_000489.4(ATRX):c.7072-8T>C http://identifiers.org/clinvar/393120 ^@ NM_000489.4(ATRX):c.3655G>A (p.Gly1219Arg) http://identifiers.org/clinvar/389447 ^@ NM_000489.4(ATRX):c.2875G>T (p.Asp959Tyr) http://identifiers.org/clinvar/380286 ^@ NM_000489.4(ATRX):c.1033G>A (p.Ala345Thr) http://identifiers.org/clinvar/385873 ^@ NM_000489.4(ATRX):c.654A>G (p.Glu218=) http://identifiers.org/clinvar/386711 ^@ NM_001866.2(COX7B):c.165+10A>G http://identifiers.org/clinvar/392602 ^@ NM_000052.6(ATP7A):c.-22+13T>G http://identifiers.org/clinvar/392357 ^@ NM_000052.6(ATP7A):c.1597A>G (p.Asn533Asp) http://identifiers.org/clinvar/391568 ^@ NM_000291.3(PGK1):c.185G>A (p.Ser62Asn) http://identifiers.org/clinvar/392941 ^@ NM_153252.4(BRWD3):c.5117G>A (p.Gly1706Glu) http://identifiers.org/clinvar/377662 ^@ NM_000390.3(CHM):c.265A>T (p.Ser89Cys) http://identifiers.org/clinvar/391879 ^@ NM_014893.4(NLGN4Y):c.1203C>A (p.Asn401Lys) http://identifiers.org/clinvar/378042 ^@ NM_018684.3(ZC4H2):c.197T>A (p.Leu66His) http://identifiers.org/clinvar/378044 ^@ NM_018684.3(ZC4H2):c.225+5G>A http://identifiers.org/clinvar/378045 ^@ NM_018684.3(ZC4H2):c.53G>A (p.Arg18Lys) http://identifiers.org/clinvar/378047 ^@ NM_000338.2(SLC12A1):c.1137delC (p.Phe380Serfs) http://identifiers.org/clinvar/378048 ^@ NM_000338.2(SLC12A1):c.1883C>A (p.Ala628Asp) http://identifiers.org/clinvar/378049 ^@ NM_000338.2(SLC12A1):c.2787dupC (p.Thr931Asnfs) http://identifiers.org/clinvar/378050 ^@ NM_000338.2(SLC12A1):c.2498_2499delGA (p.Arg833Ilefs) http://identifiers.org/clinvar/378051 ^@ NM_000338.2(SLC12A1):c.1833delT (p.Phe611Leufs) http://identifiers.org/clinvar/378053 ^@ NM_001429.3(EP300):c.3857-A>G http://identifiers.org/clinvar/378054 ^@ NM_005619.4(RTN2):c.939delT (p.Thr314Leufs) http://identifiers.org/clinvar/378057 ^@ NM_021625.4(TRPV4):c.2481_2484delCCGC (p.Arg828Trpfs) http://identifiers.org/clinvar/393348 ^@ NM_021625.4(TRPV4):c.2481_2484delCCGC (p.Arg828Trpfs) http://identifiers.org/clinvar/378059 ^@ NM_177987.2(TUBB8):c.713C>T (p.Thr238Met) http://identifiers.org/clinvar/378060 ^@ NM_177987.2(TUBB8):c.80_100del21 (p.Glu27_Ala33del) http://identifiers.org/clinvar/378061 ^@ NM_177987.2(TUBB8):c.426dupG (p.Thr143Aspfs) http://identifiers.org/clinvar/390238 ^@ NM_003630.2(PEX3):c.898C>T (p.Arg300Ter) http://identifiers.org/clinvar/390240 ^@ NM_003630.2(PEX3):c.991G>A (p.Gly331Arg) http://identifiers.org/clinvar/390242 ^@ NM_001171603.1(PREPL):c.807delT (p.Met270Terfs) http://identifiers.org/clinvar/393298 ^@ NM_000314.6(PTEN):c.44_45dupGA (p.Tyr16Aspfs) http://identifiers.org/clinvar/393301 ^@ NM_021800.2(DNAJC12):c.298-968_503-2603del http://identifiers.org/clinvar/393302 ^@ NM_021800.2(DNAJC12):c.215G>C (p.Arg72Pro) http://identifiers.org/clinvar/393303 ^@ NM_021800.2(DNAJC12):c.158-2A>T http://identifiers.org/clinvar/393318 ^@ NM_001033053.2(NLRP1):c.2358-?_2528+?del http://identifiers.org/clinvar/393319 ^@ NM_001033053.2(NLRP1):c.2176C>T (p.Arg726Trp) http://identifiers.org/clinvar/393320 ^@ NM_001033053.2(NLRP1):c.3653C>G (p.Pro1218Arg) http://identifiers.org/clinvar/393355 ^@ NM_001024921.3(RPL9):c.375G>C (p.Arg125Ser) http://identifiers.org/clinvar/393356 ^@ NM_203446.2(SYNJ1):c.1376G>C (p.Arg459Pro) http://identifiers.org/clinvar/393357 ^@ NM_203446.2(SYNJ1):c.2663A>G (p.Tyr888Cys) http://identifiers.org/clinvar/393358 ^@ NM_203446.2(SYNJ1):c.2528G>A (p.Trp843Ter) http://identifiers.org/clinvar/393359 ^@ NM_203446.2(SYNJ1):c.1938delT (p.Gln647Argfs) http://identifiers.org/clinvar/393360 ^@ NM_203446.2(SYNJ1):c.3365-2A>G http://identifiers.org/clinvar/393367 ^@ NM_003597.4(KLF11):c.608_609delGAinsAG (p.Gly203Glu) http://identifiers.org/clinvar/393397 ^@ NM_033507.1(GCK):c.921_922delGCinsAT (p.Leu308Phe) http://identifiers.org/clinvar/393362 ^@ NM_001003680.3(LEPR):c.430G>T (p.Val144Leu) http://identifiers.org/clinvar/393363 ^@ NM_001003680.3(LEPR):c.1055G>T (p.Cys352Phe) http://identifiers.org/clinvar/393364 ^@ NM_001003680.3(LEPR):c.2096C>T (p.Thr699Met) http://identifiers.org/clinvar/393365 ^@ NM_006996.2(SLC19A2):c.824G>T (p.Arg275Leu) http://identifiers.org/clinvar/393366 ^@ NM_003597.4(KLF11):c.541G>A (p.Glu181Lys) http://identifiers.org/clinvar/393368 ^@ NM_003597.4(KLF11):c.953T>G (p.Leu318Arg) http://identifiers.org/clinvar/393369 ^@ NM_003597.4(KLF11):c.1205G>A (p.Arg402Gln) http://identifiers.org/clinvar/393370 ^@ NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) http://identifiers.org/clinvar/393371 ^@ NM_015120.4(ALMS1):c.2215G>A (p.Glu739Lys) http://identifiers.org/clinvar/393372 ^@ NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) http://identifiers.org/clinvar/393373 ^@ NM_015120.4(ALMS1):c.4408C>A (p.Pro1470Thr) http://identifiers.org/clinvar/393374 ^@ NM_015120.4(ALMS1):c.5993A>G (p.Lys1998Arg) http://identifiers.org/clinvar/393375 ^@ NM_015120.4(ALMS1):c.6040G>T (p.Ala2014Ser) http://identifiers.org/clinvar/393376 ^@ NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn) http://identifiers.org/clinvar/393377 ^@ NM_015120.4(ALMS1):c.9115C>G (p.Pro3039Ala) http://identifiers.org/clinvar/393378 ^@ NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) http://identifiers.org/clinvar/393379 ^@ NM_015120.4(ALMS1):c.9917A>G (p.Asn3306Ser) http://identifiers.org/clinvar/393380 ^@ NM_015120.4(ALMS1):c.11614A>T (p.Asn3872Tyr) http://identifiers.org/clinvar/393381 ^@ NM_015120.4(ALMS1):c.12298A>G (p.Arg4100Gly) http://identifiers.org/clinvar/393382 ^@ NM_004836.6(EIF2AK3):c.1751G>A (p.Gly584Glu) http://identifiers.org/clinvar/393383 ^@ NM_004836.6(EIF2AK3):c.440T>G (p.Val147Gly) http://identifiers.org/clinvar/393384 ^@ NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) http://identifiers.org/clinvar/393385 ^@ NM_006005.3(WFS1):c.578A>G (p.Lys193Arg) http://identifiers.org/clinvar/393386 ^@ NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) http://identifiers.org/clinvar/393387 ^@ NM_006005.3(WFS1):c.667C>A (p.Leu223Met) http://identifiers.org/clinvar/393388 ^@ NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) http://identifiers.org/clinvar/393389 ^@ NM_006005.3(WFS1):c.1868T>A (p.Met623Lys) http://identifiers.org/clinvar/393390 ^@ NM_006005.3(WFS1):c.1896G>T (p.Met632Ile) http://identifiers.org/clinvar/393391 ^@ NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) http://identifiers.org/clinvar/393392 ^@ NM_005327.4(HADH):c.662G>A (p.Arg221His) http://identifiers.org/clinvar/393393 ^@ NM_005327.4(HADH):c.881A>G (p.Asn294Ser) http://identifiers.org/clinvar/393394 ^@ NM_173560.3(RFX6):c.1319A>G (p.Tyr440Cys) http://identifiers.org/clinvar/393395 ^@ NM_173560.3(RFX6):c.2176C>G (p.Arg726Gly) http://identifiers.org/clinvar/393396 ^@ NM_173560.3(RFX6):c.2561C>T (p.Ser854Leu) http://identifiers.org/clinvar/393398 ^@ NM_000162.3(GCK):c.74T>A (p.Leu25Gln) http://identifiers.org/clinvar/393399 ^@ NM_002711.3(PPP1R3A):c.3259A>G (p.Ile1087Val) http://identifiers.org/clinvar/393400 ^@ NM_002711.3(PPP1R3A):c.3044A>G (p.Asn1015Ser) http://identifiers.org/clinvar/393401 ^@ NM_002711.3(PPP1R3A):c.2640A>T (p.Arg880Ser) http://identifiers.org/clinvar/393402 ^@ NM_002711.3(PPP1R3A):c.2267C>T (p.Pro756Leu) http://identifiers.org/clinvar/393403 ^@ NM_002711.3(PPP1R3A):c.1915G>T (p.Gly639Cys) http://identifiers.org/clinvar/393404 ^@ NM_002711.3(PPP1R3A):c.1880G>A (p.Arg627Lys) http://identifiers.org/clinvar/393405 ^@ NM_002711.3(PPP1R3A):c.1714A>G (p.Ile572Val) http://identifiers.org/clinvar/393406 ^@ NM_002711.3(PPP1R3A):c.416C>G (p.Ser139Cys) http://identifiers.org/clinvar/393407 ^@ NM_001753.4(CAV1):c.43A>G (p.Thr15Ala) http://identifiers.org/clinvar/393408 ^@ NM_006193.2(PAX4):c.908C>T (p.Pro303Leu) http://identifiers.org/clinvar/393409 ^@ NM_006193.2(PAX4):c.104T>C (p.Ile35Thr) http://identifiers.org/clinvar/393410 ^@ NM_001715.2(BLK):c.154C>A (p.Pro52Thr) http://identifiers.org/clinvar/393411 ^@ NM_001715.2(BLK):c.335T>C (p.Phe112Ser) http://identifiers.org/clinvar/393412 ^@ NM_001042413.1(GLIS3):c.2765A>T (p.Gln922Leu) http://identifiers.org/clinvar/393413 ^@ NM_001042413.1(GLIS3):c.2095C>T (p.Arg699Cys) http://identifiers.org/clinvar/393414 ^@ NM_001042413.1(GLIS3):c.1330C>T (p.Pro444Ser) http://identifiers.org/clinvar/393415 ^@ NM_001042413.1(GLIS3):c.1318A>G (p.Thr440Ala) http://identifiers.org/clinvar/393416 ^@ NM_001042413.1(GLIS3):c.1191G>C (p.Gln397His) http://identifiers.org/clinvar/393417 ^@ NM_001042413.1(GLIS3):c.1085C>A (p.Pro362Gln) http://identifiers.org/clinvar/393418 ^@ NM_001042413.1(GLIS3):c.590A>T (p.Asp197Val) http://identifiers.org/clinvar/393419 ^@ NM_001042413.1(GLIS3):c.232C>G (p.Arg78Gly) http://identifiers.org/clinvar/393420 ^@ NM_001807.4(CEL):c.869C>T (p.Thr290Met) http://identifiers.org/clinvar/393421 ^@ NM_001807.4(CEL):c.1463T>C (p.Ile488Thr) http://identifiers.org/clinvar/393422 ^@ NM_001807.4(CEL):c.1628G>A (p.Arg543His) http://identifiers.org/clinvar/393423 ^@ NM_006412.3(AGPAT2):c.809C>T (p.Ala270Val) http://identifiers.org/clinvar/393424 ^@ NM_006412.3(AGPAT2):c.640A>G (p.Lys214Glu) http://identifiers.org/clinvar/393425 ^@ NM_006412.3(AGPAT2):c.359A>G (p.Lys120Arg) http://identifiers.org/clinvar/393426 ^@ NM_006412.3(AGPAT2):c.340C>T (p.Arg114Cys) http://identifiers.org/clinvar/393427 ^@ NM_006412.3(AGPAT2):c.199G>A (p.Val67Met) http://identifiers.org/clinvar/393428 ^@ NM_000352.4(ABCC8):c.3875A>G (p.Asn1292Ser) http://identifiers.org/clinvar/393429 ^@ NM_000352.4(ABCC8):c.1067A>G (p.Tyr356Cys) http://identifiers.org/clinvar/393430 ^@ NM_000352.4(ABCC8):c.375C>G (p.His125Gln) http://identifiers.org/clinvar/393431 ^@ NM_032667.6(BSCL2):c.1113_1118delTTCTGC (p.Ser372_Ala373del) http://identifiers.org/clinvar/393432 ^@ NM_032667.6(BSCL2):c.439-1G>C http://identifiers.org/clinvar/393433 ^@ NM_001122955.3(BSCL2):c.199A>C (p.Asn67His) http://identifiers.org/clinvar/393434 ^@ NM_000545.6(HNF1A):c.616T>A (p.Trp206Arg) http://identifiers.org/clinvar/393435 ^@ NM_000545.6(HNF1A):c.1722C>A (p.Gly574=) http://identifiers.org/clinvar/393436 ^@ NM_000209.3(PDX1):c.713_714insGCC (p.Pro244_Gly245insPro) http://identifiers.org/clinvar/393437 ^@ NM_002666.4(PLIN1):c.814G>A (p.Val272Met) http://identifiers.org/clinvar/393438 ^@ NM_002666.4(PLIN1):c.692G>T (p.Arg231Leu) http://identifiers.org/clinvar/393439 ^@ NM_002666.4(PLIN1):c.466G>T (p.Val156Leu) http://identifiers.org/clinvar/393440 ^@ NM_002666.4(PLIN1):c.245C>T (p.Thr82Ile) http://identifiers.org/clinvar/393441 ^@ NM_002666.4(PLIN1):c.107G>T (p.Cys36Phe) http://identifiers.org/clinvar/393442 ^@ NM_012232.5(CAVIN1):c.570_571insGAGCTGGGCGAGGGCGAG (p.Glu190_Arg191insGluLeuGlyGluGlyGlu) http://identifiers.org/clinvar/393443 ^@ NM_000208.3(INSR):c.2564G>A (p.Gly855Asp) http://identifiers.org/clinvar/393444 ^@ NM_000457.4(HNF4A):c.910G>A (p.Asp304Asn) http://identifiers.org/clinvar/393445 ^@ NM_014009.3(FOXP3):c.409G>A (p.Ala137Thr) http://identifiers.org/clinvar/393446 ^@ NM_001198688.1(LEPR):c.1968G>T (p.Lys656Asn) http://identifiers.org/clinvar/393447 ^@ NM_000162.3(GCK):c.1361C>A (p.Ala454Glu) http://identifiers.org/clinvar/393448 ^@ NM_000162.3(GCK):c.1344delC (p.Ala449Argfs) http://identifiers.org/clinvar/393449 ^@ NM_000162.3(GCK):c.1253+2T>A http://identifiers.org/clinvar/393450 ^@ NM_000162.3(GCK):c.1016A>G (p.Glu339Gly) http://identifiers.org/clinvar/393451 ^@ NM_000162.3(GCK):c.748C>T (p.Arg250Cys) http://identifiers.org/clinvar/393452 ^@ NM_000162.3(GCK):c.680-1G>A http://identifiers.org/clinvar/393453 ^@ NM_000162.3(GCK):c.128G>A (p.Arg43His) http://identifiers.org/clinvar/393454 ^@ NM_000162.3(GCK):c.122T>C (p.Met41Thr) http://identifiers.org/clinvar/393455 ^@ NM_000207.2(INS):c.278A>G (p.Glu93Gly) http://identifiers.org/clinvar/393456 ^@ NM_000545.6(HNF1A):c.694dupC (p.Leu232Profs) http://identifiers.org/clinvar/393458 ^@ NM_000251.2(MSH2):c.1738_1741delGAAA (p.Glu580Leufs) http://identifiers.org/clinvar/393457 ^@ NM_000251.2(MSH2):c.2078G>A (p.Cys693Tyr) http://identifiers.org/clinvar/393459 ^@ NM_000179.2(MSH6):c.181G>A (p.Ala61Thr) http://identifiers.org/clinvar/393460 ^@ NM_000179.2(MSH6):c.402dupT (p.Asp135Terfs) http://identifiers.org/clinvar/393461 ^@ NM_000535.6(PMS2):c.-77delA http://identifiers.org/clinvar/393463 ^@ NM_021951.2(DMRT1):c.332G>T (p.Arg111Met) http://identifiers.org/clinvar/393464 ^@ NM_031844.2(HNRNPU):c.2471_2472delATinsGA (p.Tyr824Ter) http://identifiers.org/clinvar/393465 ^@ NM_031844.2(HNRNPU):c.511C>T (p.Gln171Ter) http://identifiers.org/clinvar/393466 ^@ NM_031844.2(HNRNPU):c.1811dupT (p.Val605Cysfs) http://identifiers.org/clinvar/393467 ^@ NM_020361.4(CPA6):c.619C>G (p.Gln207Glu) http://identifiers.org/clinvar/393468 ^@ NM_020361.4(CPA6):c.587A>G (p.His196Arg) http://identifiers.org/clinvar/393469 ^@ NM_032045.4(KREMEN1):c.626T>C (p.Phe209Ser) http://identifiers.org/clinvar/393470 ^@ NM_003140.2(SRY):c.227G>T (p.Arg76Leu) http://identifiers.org/clinvar/393471 ^@ NM_000216.3(ANOS1):c.145T>C (p.Cys49Arg) http://identifiers.org/clinvar/393472 ^@ NM_000216.3(ANOS1):c.33_34insA (p.Leu12Thrfs) http://identifiers.org/clinvar/44577 ^@ NM_002667.4(PLN):c.152T>C (p.Leu51Pro) http://identifiers.org/clinvar/44578 ^@ NM_002667.4(PLN):c.27C>T (p.Arg9=) http://identifiers.org/clinvar/44579 ^@ NM_002700.2(POU4F3):c.837G>T (p.Thr279=) http://identifiers.org/clinvar/44580 ^@ NM_002667.4(PLN):c.40_42delAGA (p.Arg14del) http://identifiers.org/clinvar/44581 ^@ NM_002667.4(PLN):c.43G>A (p.Ala15Thr) http://identifiers.org/clinvar/44582 ^@ NM_002667.4(PLN):c.61C>A (p.Pro21Thr) http://identifiers.org/clinvar/44583 ^@ NM_002700.2(POU4F3):c.90C>T (p.Ala30=) http://identifiers.org/clinvar/44585 ^@ NM_002755.3(MAP2K1):c.1022+10C>T http://identifiers.org/clinvar/44586 ^@ NM_002755.3(MAP2K1):c.1068+12_1068+15delTATT http://identifiers.org/clinvar/44587 ^@ NM_002755.3(MAP2K1):c.124C>T (p.Leu42Phe) http://identifiers.org/clinvar/44588 ^@ NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) http://identifiers.org/clinvar/44589 ^@ NM_002755.3(MAP2K1):c.315C>T (p.Pro105=) http://identifiers.org/clinvar/44590 ^@ NM_002755.3(MAP2K1):c.648C>T (p.Ile216=) http://identifiers.org/clinvar/44591 ^@ NM_002755.3(MAP2K1):c.726G>T (p.Val242=) http://identifiers.org/clinvar/44592 ^@ NM_002755.3(MAP2K1):c.804C>G (p.Ala268=) http://identifiers.org/clinvar/44593 ^@ NM_002755.3(MAP2K1):c.875C>G (p.Thr292Ser) http://identifiers.org/clinvar/44594 ^@ NM_002755.3(MAP2K1):c.879C>T (p.Pro293=) http://identifiers.org/clinvar/44595 ^@ NM_002834.4(PTPN11):c.119A>G (p.Asp40Gly) http://identifiers.org/clinvar/44596 ^@ NM_002834.4(PTPN11):c.1226G>C (p.Gly409Ala) http://identifiers.org/clinvar/44597 ^@ NM_002834.4(PTPN11):c.1366G>A (p.Val456Met) http://identifiers.org/clinvar/44598 ^@ NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) http://identifiers.org/clinvar/44599 ^@ NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) http://identifiers.org/clinvar/44600 ^@ NM_002834.4(PTPN11):c.1683G>A (p.Pro561=) http://identifiers.org/clinvar/44601 ^@ NM_002834.4(PTPN11):c.1724A>G (p.Asp575Gly) http://identifiers.org/clinvar/44602 ^@ NM_002834.4(PTPN11):c.1746C>T (p.Asn582=) http://identifiers.org/clinvar/44603 ^@ NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) http://identifiers.org/clinvar/44604 ^@ NM_002834.4(PTPN11):c.217_218delACinsCT (p.Thr73Leu) http://identifiers.org/clinvar/44605 ^@ NM_002834.4(PTPN11):c.235C>A (p.Gln79Lys) http://identifiers.org/clinvar/44606 ^@ NM_002834.4(PTPN11):c.315A>T (p.Ala105=) http://identifiers.org/clinvar/44607 ^@ NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) http://identifiers.org/clinvar/44608 ^@ NM_002834.4(PTPN11):c.48A>G (p.Ala16=) http://identifiers.org/clinvar/44609 ^@ NM_002834.4(PTPN11):c.556C>T (p.Arg186Trp) http://identifiers.org/clinvar/44610 ^@ NM_002834.4(PTPN11):c.661A>T (p.Ile221Leu) http://identifiers.org/clinvar/44611 ^@ NM_002834.4(PTPN11):c.661delA (p.Ile221Terfs) http://identifiers.org/clinvar/44612 ^@ NM_002834.4(PTPN11):c.66A>G (p.Thr22=) http://identifiers.org/clinvar/44613 ^@ NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) http://identifiers.org/clinvar/44614 ^@ NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) http://identifiers.org/clinvar/44615 ^@ NM_002834.4(PTPN11):c.855T>G (p.Phe285Leu) http://identifiers.org/clinvar/44616 ^@ NM_002834.4(PTPN11):c.858T>A (p.Asp286Glu) http://identifiers.org/clinvar/44617 ^@ NM_002880.3(RAF1):c.-382A>G http://identifiers.org/clinvar/44618 ^@ NM_002880.3(RAF1):c.1140C>T (p.Val380=) http://identifiers.org/clinvar/44619 ^@ NM_002880.3(RAF1):c.1314C>T (p.Thr438=) http://identifiers.org/clinvar/44620 ^@ NM_002880.3(RAF1):c.1515T>C (p.Pro505=) http://identifiers.org/clinvar/44621 ^@ NM_002880.3(RAF1):c.1528C>T (p.Leu510Phe) http://identifiers.org/clinvar/44622 ^@ NM_002880.3(RAF1):c.1695T>C (p.Tyr565=) http://identifiers.org/clinvar/44623 ^@ NM_002880.3(RAF1):c.1941C>T (p.Val647=) http://identifiers.org/clinvar/44624 ^@ NM_002880.3(RAF1):c.313C>G (p.His105Asp) http://identifiers.org/clinvar/44625 ^@ NM_002880.3(RAF1):c.321-14dupT http://identifiers.org/clinvar/44626 ^@ NM_002880.3(RAF1):c.329C>T (p.Ala110Val) http://identifiers.org/clinvar/44627 ^@ NM_002880.3(RAF1):c.379C>G (p.Gln127Glu) http://identifiers.org/clinvar/44628 ^@ NM_002880.3(RAF1):c.435G>A (p.Thr145=) http://identifiers.org/clinvar/44629 ^@ NM_002880.3(RAF1):c.639T>C (p.Thr213=) http://identifiers.org/clinvar/44630 ^@ NM_002880.3(RAF1):c.680+6T>C http://identifiers.org/clinvar/44631 ^@ NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) http://identifiers.org/clinvar/44632 ^@ NM_002880.3(RAF1):c.768G>C (p.Arg256Ser) http://identifiers.org/clinvar/44633 ^@ NM_002880.3(RAF1):c.776C>A (p.Ser259Tyr) http://identifiers.org/clinvar/44634 ^@ NM_002880.3(RAF1):c.786T>A (p.Asn262Lys) http://identifiers.org/clinvar/44635 ^@ NM_002880.3(RAF1):c.876C>T (p.Ala292=) http://identifiers.org/clinvar/44636 ^@ NM_002906.3(RDX):c.1059A>G (p.Gln353=) http://identifiers.org/clinvar/44637 ^@ NM_002906.3(RDX):c.1468G>A (p.Asp490Asn) http://identifiers.org/clinvar/44638 ^@ NM_002906.3(RDX):c.1487C>T (p.Ala496Val) http://identifiers.org/clinvar/44639 ^@ NM_002906.3(RDX):c.72A>G (p.Thr24=) http://identifiers.org/clinvar/44640 ^@ NM_002906.3(RDX):c.959+3dupA http://identifiers.org/clinvar/44641 ^@ NM_003000.2(SDHB):c.18C>A (p.Ala6=) http://identifiers.org/clinvar/44642 ^@ NM_003000.2(SDHB):c.287-1G>C http://identifiers.org/clinvar/44643 ^@ NM_003000.2(SDHB):c.415C>T (p.Leu139Phe) http://identifiers.org/clinvar/44644 ^@ NM_003000.2(SDHB):c.424-16_424-14dupTTC http://identifiers.org/clinvar/44645 ^@ NM_003000.2(SDHB):c.575G>C (p.Cys192Ser) http://identifiers.org/clinvar/44646 ^@ NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) http://identifiers.org/clinvar/44647 ^@ NM_003001.3(SDHC):c.20+11_20+12dupTG http://identifiers.org/clinvar/44648 ^@ NM_003002.3(SDHD):c.*613T>C http://identifiers.org/clinvar/44649 ^@ NM_003002.3(SDHD):c.*803A>G http://identifiers.org/clinvar/44650 ^@ NM_003002.3(SDHD):c.204C>T (p.Ser68=) http://identifiers.org/clinvar/44651 ^@ NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) http://identifiers.org/clinvar/44652 ^@ NM_003242.5(TGFBR2):c.1167C>T (p.Asn389=) http://identifiers.org/clinvar/44653 ^@ NM_003242.5(TGFBR2):c.118G>A (p.Asp40Asn) http://identifiers.org/clinvar/44654 ^@ NM_003242.5(TGFBR2):c.1282G>C (p.Glu428Gln) http://identifiers.org/clinvar/44655 ^@ NM_003242.5(TGFBR2):c.1418C>A (p.Pro473Gln) http://identifiers.org/clinvar/44656 ^@ NM_003242.5(TGFBR2):c.1525-7G>A http://identifiers.org/clinvar/44657 ^@ NM_003242.5(TGFBR2):c.1495G>T (p.Glu499Ter) http://identifiers.org/clinvar/44658 ^@ NM_003242.5(TGFBR2):c.455-4T>A http://identifiers.org/clinvar/44659 ^@ NM_003242.5(TGFBR2):c.617C>T (p.Thr206Met) http://identifiers.org/clinvar/44660 ^@ NM_003242.5(TGFBR2):c.934G>A (p.Glu312Lys) http://identifiers.org/clinvar/44661 ^@ NM_003242.5(TGFBR2):c.999A>G (p.Leu333=) http://identifiers.org/clinvar/44662 ^@ NM_003276.2(TMPO):c.1246A>G (p.Lys416Glu) http://identifiers.org/clinvar/44663 ^@ NM_003276.2(TMPO):c.1471T>G (p.Ser491Ala) http://identifiers.org/clinvar/44664 ^@ NM_003276.2(TMPO):c.1488A>G (p.Glu496=) http://identifiers.org/clinvar/44665 ^@ NM_003276.2(TMPO):c.1623A>C (p.Leu541=) http://identifiers.org/clinvar/44666 ^@ NM_003276.2(TMPO):c.1632T>A (p.Ile544=) http://identifiers.org/clinvar/44667 ^@ NM_003276.2(TMPO):c.1795C>G (p.Gln599Glu) http://identifiers.org/clinvar/44668 ^@ NM_003276.2(TMPO):c.1877C>T (p.Ser626Leu) http://identifiers.org/clinvar/44669 ^@ NM_003276.2(TMPO):c.1949G>A (p.Arg650His) http://identifiers.org/clinvar/44670 ^@ NM_003276.2(TMPO):c.1957C>T (p.Leu653Phe) http://identifiers.org/clinvar/44671 ^@ NM_003276.2(TMPO):c.396T>A (p.Gly132=) http://identifiers.org/clinvar/44672 ^@ NM_003276.2(TMPO):c.534T>C (p.Asn178=) http://identifiers.org/clinvar/44673 ^@ NM_003276.2(TMPO):c.821G>A (p.Arg274Lys) http://identifiers.org/clinvar/44674 ^@ NM_003276.2(TMPO):c.87C>T (p.Ala29=) http://identifiers.org/clinvar/44675 ^@ NM_003276.2(TMPO):c.882A>G (p.Ser294=) http://identifiers.org/clinvar/44676 ^@ NM_003276.2(TMPO):c.925G>C (p.Ala309Pro) http://identifiers.org/clinvar/44677 ^@ NM_003280.2(TNNC1):c.210C>T (p.Gly70=) http://identifiers.org/clinvar/44678 ^@ NM_003280.2(TNNC1):c.324T>C (p.Ala108=) http://identifiers.org/clinvar/44679 ^@ NM_003280.2(TNNC1):c.387G>C (p.Thr129=) http://identifiers.org/clinvar/44680 ^@ NM_003280.2(TNNC1):c.394G>A (p.Asp132Asn) http://identifiers.org/clinvar/44681 ^@ NM_003280.2(TNNC1):c.402G>T (p.Glu134Asp) http://identifiers.org/clinvar/44682 ^@ NM_003280.2(TNNC1):c.442A>G (p.Ile148Val) http://identifiers.org/clinvar/44683 ^@ NM_003280.2(TNNC1):c.445G>A (p.Asp149Asn) http://identifiers.org/clinvar/44684 ^@ NM_003280.2(TNNC1):c.5A>G (p.Asp2Gly) http://identifiers.org/clinvar/44685 ^@ NM_003476.4(CSRP3):c.140C>T (p.Thr47Met) http://identifiers.org/clinvar/44686 ^@ NM_003476.4(CSRP3):c.219T>C (p.Tyr73=) http://identifiers.org/clinvar/44687 ^@ NM_003476.4(CSRP3):c.148G>A (p.Ala50Thr) http://identifiers.org/clinvar/44688 ^@ NM_003476.4(CSRP3):c.150G>A (p.Ala50=) http://identifiers.org/clinvar/44689 ^@ NM_003476.4(CSRP3):c.152C>A (p.Ala51Asp) http://identifiers.org/clinvar/44690 ^@ NM_003476.4(CSRP3):c.191G>A (p.Arg64His) http://identifiers.org/clinvar/44691 ^@ NM_003476.4(CSRP3):c.197A>G (p.Tyr66Cys) http://identifiers.org/clinvar/44692 ^@ NM_003476.4(CSRP3):c.213C>T (p.Ile71=) http://identifiers.org/clinvar/44693 ^@ NM_003476.4(CSRP3):c.282-5_285delAACAGGTCC http://identifiers.org/clinvar/44694 ^@ NM_003476.4(CSRP3):c.299G>A (p.Arg100His) http://identifiers.org/clinvar/44695 ^@ NM_003476.4(CSRP3):c.312C>G (p.Thr104=) http://identifiers.org/clinvar/44696 ^@ NM_003476.4(CSRP3):c.336G>A (p.Ala112=) http://identifiers.org/clinvar/44697 ^@ NM_003476.4(CSRP3):c.379G>A (p.Val127Ile) http://identifiers.org/clinvar/44698 ^@ NM_003476.4(CSRP3):c.456G>A (p.Lys152=) http://identifiers.org/clinvar/44699 ^@ NM_003476.4(CSRP3):c.47C>T (p.Thr16Ile) http://identifiers.org/clinvar/44700 ^@ NM_003476.4(CSRP3):c.509-3_509-2delCA http://identifiers.org/clinvar/44701 ^@ NM_003476.4(CSRP3):c.535A>G (p.Thr179Ala) http://identifiers.org/clinvar/44702 ^@ NM_003673.3(TCAP):c.111-15dupC http://identifiers.org/clinvar/44703 ^@ NM_003673.3(TCAP):c.132C>T (p.Asp44=) http://identifiers.org/clinvar/44704 ^@ NM_003673.3(TCAP):c.16C>A (p.Leu6Met) http://identifiers.org/clinvar/44705 ^@ NM_003673.3(TCAP):c.191C>T (p.Ser64Leu) http://identifiers.org/clinvar/44706 ^@ NM_003673.3(TCAP):c.316C>T (p.Arg106Cys) http://identifiers.org/clinvar/44707 ^@ NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) http://identifiers.org/clinvar/44708 ^@ NM_003673.3(TCAP):c.388C>T (p.Arg130Cys) http://identifiers.org/clinvar/44709 ^@ NM_003673.3(TCAP):c.453A>C (p.Ala151=) http://identifiers.org/clinvar/44710 ^@ NM_003673.3(TCAP):c.458G>A (p.Arg153His) http://identifiers.org/clinvar/44711 ^@ NM_003673.3(TCAP):c.472C>A (p.Arg158Ser) http://identifiers.org/clinvar/44712 ^@ NM_003673.3(TCAP):c.473G>A (p.Arg158His) http://identifiers.org/clinvar/44713 ^@ NM_003673.3(TCAP):c.493C>G (p.Gln165Glu) http://identifiers.org/clinvar/44714 ^@ NM_003673.3(TCAP):c.60C>G (p.Ala20=) http://identifiers.org/clinvar/44715 ^@ NM_004004.5(GJB2):c.*1C>T http://identifiers.org/clinvar/44716 ^@ NM_004004.5(GJB2):c.*3C>A http://identifiers.org/clinvar/44717 ^@ NM_004004.5(GJB2):c.-22-12C>T http://identifiers.org/clinvar/44718 ^@ NM_004004.5(GJB2):c.-23+12G>A http://identifiers.org/clinvar/44719 ^@ NM_004004.5(GJB2):c.-30C>T http://identifiers.org/clinvar/44720 ^@ NM_004004.5(GJB2):c.-45C>A http://identifiers.org/clinvar/44721 ^@ NM_004004.5(GJB2):c.-6T>A http://identifiers.org/clinvar/44722 ^@ NM_004004.5(GJB2):c.101T>G (p.Met34Arg) http://identifiers.org/clinvar/44723 ^@ NM_004004.5(GJB2):c.119C>A (p.Ala40Glu) http://identifiers.org/clinvar/44724 ^@ NM_004004.5(GJB2):c.11G>A (p.Gly4Asp) http://identifiers.org/clinvar/44725 ^@ NM_004004.5(GJB2):c.169C>T (p.Gln57Ter) http://identifiers.org/clinvar/44726 ^@ NM_004004.5(GJB2):c.186C>T (p.Asn62=) http://identifiers.org/clinvar/44727 ^@ NM_004004.5(GJB2):c.194A>G (p.Tyr65Cys) http://identifiers.org/clinvar/44728 ^@ NM_004004.5(GJB2):c.19C>T (p.Gln7Ter) http://identifiers.org/clinvar/44729 ^@ NM_004004.5(GJB2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/44730 ^@ NM_004004.5(GJB2):c.203A>G (p.Tyr68Cys) http://identifiers.org/clinvar/44731 ^@ NM_004004.5(GJB2):c.227T>C (p.Leu76Pro) http://identifiers.org/clinvar/44732 ^@ NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) http://identifiers.org/clinvar/44733 ^@ NM_004004.5(GJB2):c.279G>A (p.Met93Ile) http://identifiers.org/clinvar/44734 ^@ NM_004004.5(GJB2):c.281A>T (p.His94Leu) http://identifiers.org/clinvar/44735 ^@ NM_004004.5(GJB2):c.283G>A (p.Val95Met) http://identifiers.org/clinvar/44736 ^@ NM_004004.5(GJB2):c.299_300delAT (p.His100Argfs) http://identifiers.org/clinvar/44737 ^@ NM_004004.5(GJB2):c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) http://identifiers.org/clinvar/44738 ^@ NM_004004.5(GJB2):c.31_68del38 (p.Gly11Leufs) http://identifiers.org/clinvar/44739 ^@ NM_004004.5(GJB2):c.341A>G (p.Glu114Gly) http://identifiers.org/clinvar/44740 ^@ NM_004004.5(GJB2):c.34G>T (p.Gly12Cys) http://identifiers.org/clinvar/44741 ^@ NM_004004.5(GJB2):c.350A>G (p.Asp117Gly) http://identifiers.org/clinvar/44742 ^@ NM_004004.5(GJB2):c.365A>T (p.Lys122Ile) http://identifiers.org/clinvar/44743 ^@ NM_004004.5(GJB2):c.368C>A (p.Thr123Asn) http://identifiers.org/clinvar/44744 ^@ NM_004004.5(GJB2):c.370C>T (p.Gln124Ter) http://identifiers.org/clinvar/44745 ^@ NM_004004.5(GJB2):c.380G>A (p.Arg127His) http://identifiers.org/clinvar/44746 ^@ NM_004004.5(GJB2):c.384C>T (p.Ile128=) http://identifiers.org/clinvar/44747 ^@ NM_004004.5(GJB2):c.385G>A (p.Glu129Lys) http://identifiers.org/clinvar/44748 ^@ NM_004004.5(GJB2):c.412A>G (p.Ser138Gly) http://identifiers.org/clinvar/44749 ^@ NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) http://identifiers.org/clinvar/44750 ^@ NM_004004.5(GJB2):c.426C>A (p.Phe142Leu) http://identifiers.org/clinvar/44751 ^@ NM_004004.5(GJB2):c.445G>A (p.Ala149Thr) http://identifiers.org/clinvar/44752 ^@ NM_004004.5(GJB2):c.44A>C (p.Lys15Thr) http://identifiers.org/clinvar/44753 ^@ NM_004004.5(GJB2):c.456C>A (p.Tyr152Ter) http://identifiers.org/clinvar/44754 ^@ NM_004004.5(GJB2):c.457G>A (p.Val153Ile) http://identifiers.org/clinvar/44755 ^@ NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) http://identifiers.org/clinvar/44756 ^@ NM_004004.5(GJB2):c.503A>G (p.Lys168Arg) http://identifiers.org/clinvar/44757 ^@ NM_004004.5(GJB2):c.499G>A (p.Val167Met) http://identifiers.org/clinvar/44758 ^@ NM_004004.5(GJB2):c.511G>A (p.Ala171Thr) http://identifiers.org/clinvar/44759 ^@ NM_004004.5(GJB2):c.566C>A (p.Thr189Asn) http://identifiers.org/clinvar/44760 ^@ NM_004004.5(GJB2):c.571T>C (p.Phe191Leu) http://identifiers.org/clinvar/44761 ^@ NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) http://identifiers.org/clinvar/44762 ^@ NM_004004.5(GJB2):c.608T>C (p.Ile203Thr) http://identifiers.org/clinvar/44763 ^@ NM_004004.5(GJB2):c.617A>G (p.Asn206Ser) http://identifiers.org/clinvar/44764 ^@ NM_004004.5(GJB2):c.663G>C (p.Lys221Asn) http://identifiers.org/clinvar/44765 ^@ NM_004004.5(GJB2):c.670A>C (p.Lys224Gln) http://identifiers.org/clinvar/44766 ^@ NM_004004.5(GJB2):c.95G>A (p.Arg32His) http://identifiers.org/clinvar/44767 ^@ NM_004004.5(GJB2):c.9G>A (p.Trp3Ter) http://identifiers.org/clinvar/44768 ^@ NM_004086.2(COCH):c.239+80delT http://identifiers.org/clinvar/44769 ^@ NM_004100.4(EYA4):c.103C>T (p.Leu35=) http://identifiers.org/clinvar/44770 ^@ NM_004100.4(EYA4):c.111T>C (p.Ser37=) http://identifiers.org/clinvar/44771 ^@ NM_004100.4(EYA4):c.744A>G (p.Ser248=) http://identifiers.org/clinvar/44772 ^@ NM_004100.4(EYA4):c.783G>A (p.Thr261=) http://identifiers.org/clinvar/44773 ^@ NM_004100.4(EYA4):c.829G>A (p.Gly277Ser) http://identifiers.org/clinvar/44774 ^@ NM_004281.3(BAG3):c.1002T>G (p.Pro334=) http://identifiers.org/clinvar/44775 ^@ NM_004281.3(BAG3):c.111C>T (p.Pro37=) http://identifiers.org/clinvar/44776 ^@ NM_004281.3(BAG3):c.1220C>T (p.Pro407Leu) http://identifiers.org/clinvar/44777 ^@ NM_004281.3(BAG3):c.1296A>G (p.Val432=) http://identifiers.org/clinvar/44778 ^@ NM_004281.3(BAG3):c.1363G>A (p.Glu455Lys) http://identifiers.org/clinvar/44779 ^@ NM_004281.3(BAG3):c.181-15C>T http://identifiers.org/clinvar/44780 ^@ NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) http://identifiers.org/clinvar/44781 ^@ NM_004281.3(BAG3):c.231G>A (p.Pro77=) http://identifiers.org/clinvar/44782 ^@ NM_004281.3(BAG3):c.249C>A (p.His83Gln) http://identifiers.org/clinvar/44783 ^@ NM_004281.3(BAG3):c.451T>C (p.Cys151Arg) http://identifiers.org/clinvar/44784 ^@ NM_004281.3(BAG3):c.463G>A (p.Ala155Thr) http://identifiers.org/clinvar/44785 ^@ NM_004281.3(BAG3):c.474_476dupGGC (p.Ala160_Gln161insAla) http://identifiers.org/clinvar/44786 ^@ NM_004281.3(BAG3):c.606G>T (p.Pro202=) http://identifiers.org/clinvar/44788 ^@ NM_004333.4(BRAF):c.1068A>G (p.Gln356=) http://identifiers.org/clinvar/44789 ^@ NM_004281.3(BAG3):c.785C>T (p.Ala262Val) http://identifiers.org/clinvar/44790 ^@ NM_004281.3(BAG3):c.821C>T (p.Ser274Leu) http://identifiers.org/clinvar/44791 ^@ NM_004281.3(BAG3):c.870C>G (p.Pro290=) http://identifiers.org/clinvar/44792 ^@ NM_004281.3(BAG3):c.872C>T (p.Ser291Leu) http://identifiers.org/clinvar/44793 ^@ NM_004333.4(BRAF):c.1040G>C (p.Arg347Pro) http://identifiers.org/clinvar/44794 ^@ NM_004333.4(BRAF):c.1084C>A (p.Arg362=) http://identifiers.org/clinvar/44795 ^@ NM_004333.4(BRAF):c.1183A>G (p.Thr395Ala) http://identifiers.org/clinvar/44796 ^@ NM_004333.4(BRAF):c.1203C>T (p.Thr401=) http://identifiers.org/clinvar/44797 ^@ NM_004333.4(BRAF):c.1209T>C (p.Pro403=) http://identifiers.org/clinvar/44798 ^@ NM_004333.4(BRAF):c.1236C>T (p.Asn412=) http://identifiers.org/clinvar/44799 ^@ NM_004333.4(BRAF):c.1237G>A (p.Val413Met) http://identifiers.org/clinvar/44800 ^@ NM_004333.4(BRAF):c.1347T>C (p.Asp449=) http://identifiers.org/clinvar/44801 ^@ NM_004333.4(BRAF):c.1396G>A (p.Gly466Arg) http://identifiers.org/clinvar/44802 ^@ NM_004333.4(BRAF):c.1405_1407delGGA (p.Gly469del) http://identifiers.org/clinvar/44803 ^@ NM_004333.4(BRAF):c.1406G>T (p.Gly469Val) http://identifiers.org/clinvar/44804 ^@ NM_004333.4(BRAF):c.1409C>G (p.Thr470Arg) http://identifiers.org/clinvar/44805 ^@ NM_004333.4(BRAF):c.1442C>A (p.Ala481Glu) http://identifiers.org/clinvar/44806 ^@ NM_004333.4(BRAF):c.1460T>G (p.Val487Gly) http://identifiers.org/clinvar/44807 ^@ NM_004333.4(BRAF):c.1501G>C (p.Glu501Gln) http://identifiers.org/clinvar/44808 ^@ NM_004333.4(BRAF):c.1632T>C (p.Ile544=) http://identifiers.org/clinvar/44809 ^@ NM_004333.4(BRAF):c.1694+14G>A http://identifiers.org/clinvar/44810 ^@ NM_004333.4(BRAF):c.1720C>T (p.His574Tyr) http://identifiers.org/clinvar/44811 ^@ NM_004333.4(BRAF):c.1743T>A (p.Asn581Lys) http://identifiers.org/clinvar/44812 ^@ NM_004333.4(BRAF):c.1756G>A (p.Glu586Lys) http://identifiers.org/clinvar/44813 ^@ NM_004333.4(BRAF):c.1780G>A (p.Asp594Asn) http://identifiers.org/clinvar/44814 ^@ NM_004333.4(BRAF):c.1786G>T (p.Gly596Cys) http://identifiers.org/clinvar/44815 ^@ NM_004333.4(BRAF):c.1798G>A (p.Val600Met) http://identifiers.org/clinvar/44816 ^@ NM_004333.4(BRAF):c.1798G>T (p.Val600Leu) http://identifiers.org/clinvar/44817 ^@ NM_004333.4(BRAF):c.1799_1801delTGA (p.Val600_Lys601delinsGlu) http://identifiers.org/clinvar/44818 ^@ NM_004333.4(BRAF):c.1802A>C (p.Lys601Thr) http://identifiers.org/clinvar/44819 ^@ NM_004333.4(BRAF):c.2128-10T>C http://identifiers.org/clinvar/44820 ^@ NM_004333.4(BRAF):c.2128-5dupT http://identifiers.org/clinvar/44821 ^@ NM_004333.4(BRAF):c.2128-5delT http://identifiers.org/clinvar/44822 ^@ NM_004333.4(BRAF):c.2128-6T>A http://identifiers.org/clinvar/44823 ^@ NM_004333.4(BRAF):c.2136C>T (p.Ala712=) http://identifiers.org/clinvar/44824 ^@ NM_004333.4(BRAF):c.2229T>C (p.Phe743=) http://identifiers.org/clinvar/44825 ^@ NM_004333.4(BRAF):c.375T>G (p.Ser125=) http://identifiers.org/clinvar/44826 ^@ NM_004333.4(BRAF):c.483G>C (p.Leu161=) http://identifiers.org/clinvar/44827 ^@ NM_004333.4(BRAF):c.708C>T (p.Asn236=) http://identifiers.org/clinvar/44828 ^@ NM_004333.4(BRAF):c.714A>T (p.Val238=) http://identifiers.org/clinvar/44829 ^@ NM_004333.4(BRAF):c.722C>A (p.Thr241Lys) http://identifiers.org/clinvar/44830 ^@ NM_004333.4(BRAF):c.739T>G (p.Phe247Val) http://identifiers.org/clinvar/44831 ^@ NM_004333.4(BRAF):c.785A>C (p.Gln262Pro) http://identifiers.org/clinvar/44832 ^@ NM_004333.4(BRAF):c.793G>C (p.Gly265Arg) http://identifiers.org/clinvar/44833 ^@ NM_004333.4(BRAF):c.92C>G (p.Ala31Gly) http://identifiers.org/clinvar/44834 ^@ NM_004333.4(BRAF):c.968C>T (p.Ser323Leu) http://identifiers.org/clinvar/44835 ^@ NM_004387.3(NKX2-5):c.400_402delCGGinsAT (p.Arg134Metfs) http://identifiers.org/clinvar/44836 ^@ NM_004387.3(NKX2-5):c.437C>G (p.Ser146Trp) http://identifiers.org/clinvar/44837 ^@ NM_004387.3(NKX2-5):c.63A>G (p.Glu21=) http://identifiers.org/clinvar/44838 ^@ NM_004403.2(DFNA5):c.1183+9A>T http://identifiers.org/clinvar/44839 ^@ NM_004403.2(DFNA5):c.1199C>T (p.Ala400Val) http://identifiers.org/clinvar/44840 ^@ NM_004403.2(DFNA5):c.1200A>G (p.Ala400=) http://identifiers.org/clinvar/44841 ^@ NM_004403.2(DFNA5):c.1334T>A (p.Phe445Tyr) http://identifiers.org/clinvar/44842 ^@ NM_004403.2(DFNA5):c.405-15G>A http://identifiers.org/clinvar/44843 ^@ NM_004403.2(DFNA5):c.424C>A (p.Pro142Thr) http://identifiers.org/clinvar/44844 ^@ NM_004403.2(DFNA5):c.447A>G (p.Glu149=) http://identifiers.org/clinvar/44845 ^@ NM_004403.2(DFNA5):c.489G>A (p.Thr163=) http://identifiers.org/clinvar/44846 ^@ NM_004403.2(DFNA5):c.577-15C>T http://identifiers.org/clinvar/44847 ^@ NM_004403.2(DFNA5):c.619G>A (p.Val207Met) http://identifiers.org/clinvar/44848 ^@ NM_004403.2(DFNA5):c.863-6T>C http://identifiers.org/clinvar/44849 ^@ NM_004403.2(DFNA5):c.969A>G (p.Leu323=) http://identifiers.org/clinvar/44850 ^@ NM_004415.3(DSP):c.*9T>A http://identifiers.org/clinvar/44851 ^@ NM_004415.3(DSP):c.1112A>C (p.His371Pro) http://identifiers.org/clinvar/44852 ^@ NM_004415.3(DSP):c.1146delT (p.Phe382Leufs) http://identifiers.org/clinvar/44853 ^@ NM_004415.3(DSP):c.1264G>A (p.Glu422Lys) http://identifiers.org/clinvar/44854 ^@ NM_004415.3(DSP):c.1266+6G>T http://identifiers.org/clinvar/44855 ^@ NM_004415.3(DSP):c.126T>C (p.Tyr42=) http://identifiers.org/clinvar/44856 ^@ NM_004415.3(DSP):c.1273C>T (p.Arg425Ter) http://identifiers.org/clinvar/44857 ^@ NM_004415.3(DSP):c.1274G>A (p.Arg425Gln) http://identifiers.org/clinvar/44858 ^@ NM_004415.3(DSP):c.12C>G (p.Asn4Lys) http://identifiers.org/clinvar/44859 ^@ NM_004415.3(DSP):c.145A>G (p.Thr49Ala) http://identifiers.org/clinvar/44860 ^@ NM_004415.3(DSP):c.1481A>T (p.Tyr494Phe) http://identifiers.org/clinvar/44861 ^@ NM_004415.3(DSP):c.1488G>A (p.Thr496=) http://identifiers.org/clinvar/44862 ^@ NM_004415.3(DSP):c.1527G>T (p.Gly509=) http://identifiers.org/clinvar/44863 ^@ NM_004415.3(DSP):c.1574+14G>T http://identifiers.org/clinvar/44864 ^@ NM_004415.3(DSP):c.157T>G (p.Ser53Ala) http://identifiers.org/clinvar/44865 ^@ NM_004415.3(DSP):c.1650G>A (p.Trp550Ter) http://identifiers.org/clinvar/44866 ^@ NM_004415.3(DSP):c.1680C>T (p.Ile560=) http://identifiers.org/clinvar/44867 ^@ NM_004415.3(DSP):c.1778A>G (p.Asn593Ser) http://identifiers.org/clinvar/44868 ^@ NM_004415.3(DSP):c.1839C>T (p.Thr613=) http://identifiers.org/clinvar/44869 ^@ NM_004415.3(DSP):c.1949A>G (p.Asn650Ser) http://identifiers.org/clinvar/44870 ^@ NM_004415.3(DSP):c.2091A>G (p.Gly697=) http://identifiers.org/clinvar/44871 ^@ NM_004415.3(DSP):c.2134G>A (p.Val712Met) http://identifiers.org/clinvar/44872 ^@ NM_004415.3(DSP):c.214C>T (p.Gln72Ter) http://identifiers.org/clinvar/44873 ^@ NM_004415.3(DSP):c.2346C>T (p.Asp782=) http://identifiers.org/clinvar/44874 ^@ NM_004415.3(DSP):c.2422C>T (p.Arg808Cys) http://identifiers.org/clinvar/44875 ^@ NM_004415.3(DSP):c.242G>A (p.Cys81Tyr) http://identifiers.org/clinvar/44876 ^@ NM_004415.3(DSP):c.2596C>T (p.Arg866Cys) http://identifiers.org/clinvar/44877 ^@ NM_004415.3(DSP):c.2631G>A (p.Arg877=) http://identifiers.org/clinvar/44878 ^@ NM_004415.3(DSP):c.2673T>C (p.Tyr891=) http://identifiers.org/clinvar/44879 ^@ NM_004415.3(DSP):c.273+10C>T http://identifiers.org/clinvar/44880 ^@ NM_004415.3(DSP):c.2758T>C (p.Ser920Pro) http://identifiers.org/clinvar/44881 ^@ NM_004415.3(DSP):c.2773C>T (p.Arg925Trp) http://identifiers.org/clinvar/44882 ^@ NM_004415.3(DSP):c.2794-4dupA http://identifiers.org/clinvar/44883 ^@ NM_004415.3(DSP):c.2794-6G>A http://identifiers.org/clinvar/44884 ^@ NM_004415.3(DSP):c.2794-7T>C http://identifiers.org/clinvar/44885 ^@ NM_004415.3(DSP):c.2848dupA (p.Ile950Asnfs) http://identifiers.org/clinvar/44886 ^@ NM_004415.3(DSP):c.2862C>T (p.Cys954=) http://identifiers.org/clinvar/44887 ^@ NM_004415.3(DSP):c.2866A>T (p.Asn956Tyr) http://identifiers.org/clinvar/44888 ^@ NM_004415.3(DSP):c.2959T>C (p.Ser987Pro) http://identifiers.org/clinvar/44889 ^@ NM_004415.3(DSP):c.3015A>G (p.Glu1005=) http://identifiers.org/clinvar/44890 ^@ NM_004415.3(DSP):c.3123C>T (p.Leu1041=) http://identifiers.org/clinvar/44891 ^@ NM_004415.3(DSP):c.3140C>T (p.Ala1047Val) http://identifiers.org/clinvar/44892 ^@ NM_004415.3(DSP):c.3160_3169delAAGAACAAAT (p.Lys1054Serfs) http://identifiers.org/clinvar/44893 ^@ NM_004415.3(DSP):c.3510G>A (p.Glu1170=) http://identifiers.org/clinvar/44894 ^@ NM_004415.3(DSP):c.3646A>G (p.Ile1216Val) http://identifiers.org/clinvar/44895 ^@ NM_004415.3(DSP):c.3696C>A (p.Ser1232=) http://identifiers.org/clinvar/44896 ^@ NM_004415.3(DSP):c.3829C>T (p.Gln1277Ter) http://identifiers.org/clinvar/44897 ^@ NM_004415.3(DSP):c.3963G>A (p.Gln1321=) http://identifiers.org/clinvar/44898 ^@ NM_004415.3(DSP):c.3981C>T (p.Ile1327=) http://identifiers.org/clinvar/44899 ^@ NM_004415.3(DSP):c.4065T>C (p.Tyr1355=) http://identifiers.org/clinvar/44900 ^@ NM_004415.3(DSP):c.4141A>T (p.Thr1381Ser) http://identifiers.org/clinvar/44901 ^@ NM_004415.3(DSP):c.4156G>A (p.Glu1386Lys) http://identifiers.org/clinvar/44902 ^@ NM_004415.3(DSP):c.423-16_423-15insC http://identifiers.org/clinvar/44903 ^@ NM_004415.3(DSP):c.4245T>A (p.Thr1415=) http://identifiers.org/clinvar/44904 ^@ NM_004415.3(DSP):c.4288A>T (p.Ile1430Phe) http://identifiers.org/clinvar/44905 ^@ NM_004415.3(DSP):c.4455G>C (p.Arg1485Ser) http://identifiers.org/clinvar/44906 ^@ NM_004415.3(DSP):c.4372C>G (p.Arg1458Gly) http://identifiers.org/clinvar/44907 ^@ NM_004415.3(DSP):c.4383G>A (p.Glu1461=) http://identifiers.org/clinvar/44908 ^@ NM_004415.3(DSP):c.4455G>T (p.Arg1485Ser) http://identifiers.org/clinvar/44909 ^@ NM_004415.3(DSP):c.4472A>T (p.Asp1491Val) http://identifiers.org/clinvar/44910 ^@ NM_004415.3(DSP):c.4489C>T (p.Arg1497Trp) http://identifiers.org/clinvar/44911 ^@ NM_004415.3(DSP):c.4500G>T (p.Leu1500=) http://identifiers.org/clinvar/44912 ^@ NM_004415.3(DSP):c.4515G>A (p.Ala1505=) http://identifiers.org/clinvar/44913 ^@ NM_004415.3(DSP):c.4527_4559del33 (p.Arg1509_Ser1519del) http://identifiers.org/clinvar/44914 ^@ NM_004415.3(DSP):c.4531C>T (p.Gln1511Ter) http://identifiers.org/clinvar/44915 ^@ NM_004415.3(DSP):c.4535A>G (p.Tyr1512Cys) http://identifiers.org/clinvar/44916 ^@ NM_004415.3(DSP):c.4571C>T (p.Thr1524Ile) http://identifiers.org/clinvar/44917 ^@ NM_004415.3(DSP):c.4609C>T (p.Arg1537Cys) http://identifiers.org/clinvar/44918 ^@ NM_004415.3(DSP):c.4573A>G (p.Ile1525Val) http://identifiers.org/clinvar/44919 ^@ NM_004415.3(DSP):c.4578C>A (p.Asn1526Lys) http://identifiers.org/clinvar/44920 ^@ NM_004415.3(DSP):c.4736G>A (p.Arg1579Gln) http://identifiers.org/clinvar/44921 ^@ NM_004415.3(DSP):c.4750G>A (p.Ala1584Thr) http://identifiers.org/clinvar/44922 ^@ NM_004415.3(DSP):c.478C>T (p.Arg160Ter) http://identifiers.org/clinvar/44923 ^@ NM_004415.3(DSP):c.485G>T (p.Arg162Leu) http://identifiers.org/clinvar/44924 ^@ NM_004415.3(DSP):c.5167G>C (p.Glu1723Gln) http://identifiers.org/clinvar/44925 ^@ NM_004415.3(DSP):c.5213G>A (p.Arg1738Gln) http://identifiers.org/clinvar/44926 ^@ NM_004415.3(DSP):c.5218G>A (p.Glu1740Lys) http://identifiers.org/clinvar/44927 ^@ NM_004415.3(DSP):c.534_535insA (p.Gly179Argfs) http://identifiers.org/clinvar/44928 ^@ NM_004415.3(DSP):c.5428C>T (p.Gln1810Ter) http://identifiers.org/clinvar/44929 ^@ NM_004415.3(DSP):c.5498A>T (p.Glu1833Val) http://identifiers.org/clinvar/44930 ^@ NM_004415.3(DSP):c.5522C>T (p.Ser1841Leu) http://identifiers.org/clinvar/44931 ^@ NM_004415.3(DSP):c.5744G>A (p.Arg1915His) http://identifiers.org/clinvar/44932 ^@ NM_004415.3(DSP):c.5767G>A (p.Glu1923Lys) http://identifiers.org/clinvar/44933 ^@ NM_004415.3(DSP):c.5899G>A (p.Val1967Met) http://identifiers.org/clinvar/44934 ^@ NM_004415.3(DSP):c.5912T>C (p.Leu1971Pro) http://identifiers.org/clinvar/44935 ^@ NM_004415.3(DSP):c.607G>A (p.Asp203Asn) http://identifiers.org/clinvar/44936 ^@ NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) http://identifiers.org/clinvar/44937 ^@ NM_004415.3(DSP):c.6325G>A (p.Glu2109Lys) http://identifiers.org/clinvar/44938 ^@ NM_004415.3(DSP):c.6390T>C (p.Ala2130=) http://identifiers.org/clinvar/44939 ^@ NM_004415.3(DSP):c.6577G>A (p.Glu2193Lys) http://identifiers.org/clinvar/44940 ^@ NM_004415.3(DSP):c.6655G>A (p.Val2219Ile) http://identifiers.org/clinvar/44941 ^@ NM_004415.3(DSP):c.6678T>A (p.Gly2226=) http://identifiers.org/clinvar/44942 ^@ NM_004415.3(DSP):c.6853C>A (p.Pro2285Thr) http://identifiers.org/clinvar/44943 ^@ NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) http://identifiers.org/clinvar/44944 ^@ NM_004415.3(DSP):c.6885A>T (p.Gln2295His) http://identifiers.org/clinvar/44945 ^@ NM_004415.3(DSP):c.688G>A (p.Asp230Asn) http://identifiers.org/clinvar/44946 ^@ NM_004415.3(DSP):c.699G>A (p.Trp233Ter) http://identifiers.org/clinvar/44947 ^@ NM_004415.3(DSP):c.7122C>T (p.Thr2374=) http://identifiers.org/clinvar/44948 ^@ NM_004415.3(DSP):c.712dupA (p.Ile238Asnfs) http://identifiers.org/clinvar/44949 ^@ NM_004415.3(DSP):c.727-10T>G http://identifiers.org/clinvar/44950 ^@ NM_004415.3(DSP):c.7278T>C (p.Tyr2426=) http://identifiers.org/clinvar/44951 ^@ NM_004415.3(DSP):c.741G>A (p.Ala247=) http://identifiers.org/clinvar/44952 ^@ NM_004415.3(DSP):c.741G= (p.Ala247=) http://identifiers.org/clinvar/44953 ^@ NM_004415.3(DSP):c.7557G>A (p.Leu2519=) http://identifiers.org/clinvar/44954 ^@ NM_004415.3(DSP):c.7588A>T (p.Ile2530Phe) http://identifiers.org/clinvar/44955 ^@ NM_004415.3(DSP):c.7826T>C (p.Phe2609Ser) http://identifiers.org/clinvar/44956 ^@ NM_004415.3(DSP):c.782C>T (p.Ala261Val) http://identifiers.org/clinvar/44957 ^@ NM_004415.3(DSP):c.7995G>A (p.Thr2665=) http://identifiers.org/clinvar/44958 ^@ NM_004415.3(DSP):c.7998C>G (p.Gly2666=) http://identifiers.org/clinvar/44959 ^@ NM_004415.3(DSP):c.8020G>A (p.Ala2674Thr) http://identifiers.org/clinvar/44960 ^@ NM_004415.3(DSP):c.8117_8119delAGA (p.Lys2706del) http://identifiers.org/clinvar/44961 ^@ NM_004415.3(DSP):c.8175C>A (p.Arg2725=) http://identifiers.org/clinvar/44962 ^@ NM_004415.3(DSP):c.8268A>C (p.Ile2756=) http://identifiers.org/clinvar/44963 ^@ NM_004415.3(DSP):c.8300C>A (p.Thr2767Asn) http://identifiers.org/clinvar/44964 ^@ NM_004415.3(DSP):c.8320C>T (p.Leu2774=) http://identifiers.org/clinvar/44965 ^@ NM_004415.3(DSP):c.8365A>G (p.Ile2789Val) http://identifiers.org/clinvar/44966 ^@ NM_004415.3(DSP):c.844G>A (p.Glu282Lys) http://identifiers.org/clinvar/44967 ^@ NM_004415.3(DSP):c.8472G>C (p.Gly2824=) http://identifiers.org/clinvar/44968 ^@ NM_004415.3(DSP):c.8455A>C (p.Met2819Leu) http://identifiers.org/clinvar/44969 ^@ NM_004415.3(DSP):c.8467C>G (p.Pro2823Ala) http://identifiers.org/clinvar/44970 ^@ NM_004415.3(DSP):c.8472_8483delGTCCCGCTCCGG (p.Ser2843_Arg2846del) http://identifiers.org/clinvar/44971 ^@ NM_004415.3(DSP):c.8481C>T (p.Ser2827=) http://identifiers.org/clinvar/44972 ^@ NM_004415.3(DSP):c.8481_8492delCGGCTCCCGCTC (p.Ser2843_Arg2846del) http://identifiers.org/clinvar/44973 ^@ NM_004415.3(DSP):c.8493G>C (p.Ser2831=) http://identifiers.org/clinvar/44974 ^@ NM_004415.3(DSP):c.8495G>T (p.Gly2832Val) http://identifiers.org/clinvar/44975 ^@ NM_004415.3(DSP):c.8508_8519delATCTCGCTCCGG (p.Ser2843_Arg2846del) http://identifiers.org/clinvar/44976 ^@ NM_004415.3(DSP):c.8536C>G (p.Arg2846Gly) http://identifiers.org/clinvar/44977 ^@ NM_004415.3(DSP):c.860A>G (p.Asn287Ser) http://identifiers.org/clinvar/44978 ^@ NM_004415.3(DSP):c.867C>A (p.Cys289Ter) http://identifiers.org/clinvar/44979 ^@ NM_004415.3(DSP):c.868G>A (p.Glu290Lys) http://identifiers.org/clinvar/44980 ^@ NM_004415.3(DSP):c.889G>A (p.Asp297Asn) http://identifiers.org/clinvar/44981 ^@ NM_004415.3(DSP):c.916G>A (p.Ala306Thr) http://identifiers.org/clinvar/44982 ^@ NM_004415.3(DSP):c.943C>T (p.Arg315Cys) http://identifiers.org/clinvar/44985 ^@ NM_001005862.2(ERBB2):c.2224_2235dupTACGTGATGGCT (p.Ala745_Gly746insTyrValMetAla) http://identifiers.org/clinvar/44986 ^@ NM_001005862.2(ERBB2):c.2230delA (p.Met744Trpfs) http://identifiers.org/clinvar/44987 ^@ NM_001005862.2(ERBB2):c.2236_2237insTCT (p.Gly746delinsValCys) http://identifiers.org/clinvar/44988 ^@ NM_001005862.2(ERBB2):c.2236_2237insTGT (p.Gly746delinsValCys) http://identifiers.org/clinvar/44989 ^@ NM_001005862.2(ERBB2):c.2236_2237insTTT (p.Gly746delinsValCys) http://identifiers.org/clinvar/44990 ^@ NM_001005862.2(ERBB2):c.2236delGinsTTAT (p.Gly746delinsLeuCys) http://identifiers.org/clinvar/44991 ^@ NM_001005862.2(ERBB2):c.2239G>T (p.Val747Leu) http://identifiers.org/clinvar/44992 ^@ NM_004448.3(ERBB2):c.2331_2339dupGGGCTCCCC (p.Pro780_Tyr781insGlySerPro) http://identifiers.org/clinvar/44993 ^@ NM_004448.3(ERBB2):c.2332_2340dupGGCTCCCCA (p.Pro780_Tyr781insGlySerPro) http://identifiers.org/clinvar/44994 ^@ NM_001005862.2(ERBB2):c.2353G>A (p.Gly785Arg) http://identifiers.org/clinvar/44995 ^@ NM_004452.3(ESRRB):c.1156C>T (p.Pro386Ser) http://identifiers.org/clinvar/44996 ^@ NM_004452.3(ESRRB):c.1237G>A (p.Val413Ile) http://identifiers.org/clinvar/44997 ^@ NM_004452.3(ESRRB):c.1366T>C (p.Phe456Leu) http://identifiers.org/clinvar/44998 ^@ NM_004452.3(ESRRB):c.141G>C (p.Leu47=) http://identifiers.org/clinvar/44999 ^@ NM_004452.3(ESRRB):c.1427G>A (p.Arg476His) http://identifiers.org/clinvar/45000 ^@ NM_004452.3(ESRRB):c.351G>A (p.Val117=) http://identifiers.org/clinvar/45001 ^@ NM_004452.3(ESRRB):c.81C>A (p.Ile27=) http://identifiers.org/clinvar/45002 ^@ NM_004452.3(ESRRB):c.885T>C (p.Tyr295=) http://identifiers.org/clinvar/45003 ^@ NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) http://identifiers.org/clinvar/45004 ^@ NM_004572.3(PKP2):c.1034+4delA http://identifiers.org/clinvar/45005 ^@ NM_004572.3(PKP2):c.1080C>T (p.Leu360=) http://identifiers.org/clinvar/45006 ^@ NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) http://identifiers.org/clinvar/45007 ^@ NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) http://identifiers.org/clinvar/45008 ^@ NM_004572.3(PKP2):c.1116T>C (p.Ala372=) http://identifiers.org/clinvar/45009 ^@ NM_004572.3(PKP2):c.1130T>C (p.Ile377Thr) http://identifiers.org/clinvar/45010 ^@ NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter) http://identifiers.org/clinvar/45011 ^@ NM_004572.3(PKP2):c.1170+2T>A http://identifiers.org/clinvar/45012 ^@ NM_004572.3(PKP2):c.1170+4_1170+7delAGTG http://identifiers.org/clinvar/45013 ^@ NM_004572.3(PKP2):c.1171-10T>C http://identifiers.org/clinvar/45014 ^@ NM_004572.3(PKP2):c.1171-11T>C http://identifiers.org/clinvar/45015 ^@ NM_004572.3(PKP2):c.1211dupT (p.Val406Serfs) http://identifiers.org/clinvar/45016 ^@ NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter) http://identifiers.org/clinvar/45017 ^@ NM_004572.3(PKP2):c.1271T>C (p.Phe424Ser) http://identifiers.org/clinvar/45018 ^@ NM_004572.3(PKP2):c.12C>T (p.Pro4=) http://identifiers.org/clinvar/45019 ^@ NM_004572.3(PKP2):c.1307_1315delTAAATGGGGinsATTTAGTT (p.Leu436Hisfs) http://identifiers.org/clinvar/45020 ^@ NM_004572.3(PKP2):c.1369_1372delCAAA (p.Gln457Terfs) http://identifiers.org/clinvar/45021 ^@ NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) http://identifiers.org/clinvar/45022 ^@ NM_004572.3(PKP2):c.1378+1G>C http://identifiers.org/clinvar/45023 ^@ NM_004572.3(PKP2):c.1379-1G>A http://identifiers.org/clinvar/45024 ^@ NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) http://identifiers.org/clinvar/45025 ^@ NM_004572.3(PKP2):c.1433C>T (p.Ala478Val) http://identifiers.org/clinvar/45026 ^@ NM_004572.3(PKP2):c.1482A>G (p.Ser494=) http://identifiers.org/clinvar/45027 ^@ NM_004572.3(PKP2):c.14delG (p.Gly5Alafs) http://identifiers.org/clinvar/45028 ^@ NM_004572.3(PKP2):c.148_151delACAG (p.Thr50Serfs) http://identifiers.org/clinvar/45029 ^@ NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) http://identifiers.org/clinvar/45030 ^@ NM_001005242.2(PKP2):c.156G>A (p.Lys52=) http://identifiers.org/clinvar/45031 ^@ NM_004572.3(PKP2):c.1574T>G (p.Leu525Arg) http://identifiers.org/clinvar/45032 ^@ NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) http://identifiers.org/clinvar/45033 ^@ NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) http://identifiers.org/clinvar/45034 ^@ NM_004572.3(PKP2):c.1580T>C (p.Leu527Pro) http://identifiers.org/clinvar/45035 ^@ NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) http://identifiers.org/clinvar/45036 ^@ NM_004572.3(PKP2):c.1614G>A (p.Trp538Ter) http://identifiers.org/clinvar/45037 ^@ NM_004572.3(PKP2):c.1660A>G (p.Ile554Val) http://identifiers.org/clinvar/45038 ^@ NM_004572.3(PKP2):c.1688+1G>A http://identifiers.org/clinvar/45039 ^@ NM_004572.3(PKP2):c.1688+9A>G http://identifiers.org/clinvar/45040 ^@ NM_004572.3(PKP2):c.1689-8dupT http://identifiers.org/clinvar/45041 ^@ NM_004572.3(PKP2):c.1709delC (p.Ala570Valfs) http://identifiers.org/clinvar/45042 ^@ NM_004572.3(PKP2):c.1740C>T (p.Asp580=) http://identifiers.org/clinvar/45043 ^@ NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) http://identifiers.org/clinvar/45044 ^@ NM_004572.3(PKP2):c.1756C>T (p.Leu586=) http://identifiers.org/clinvar/45045 ^@ NM_004572.3(PKP2):c.1759delG (p.Val587Serfs) http://identifiers.org/clinvar/45046 ^@ NM_004572.3(PKP2):c.1760delT (p.Val587Alafs) http://identifiers.org/clinvar/45047 ^@ NM_004572.3(PKP2):c.1821dupT (p.Val608Cysfs) http://identifiers.org/clinvar/45048 ^@ NM_004572.3(PKP2):c.1889T>C (p.Ile630Thr) http://identifiers.org/clinvar/45049 ^@ NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter) http://identifiers.org/clinvar/45050 ^@ NM_004572.3(PKP2):c.193G>T (p.Ala65Ser) http://identifiers.org/clinvar/45051 ^@ NM_004572.3(PKP2):c.1952_1955dupGAAG (p.Ser652Argfs) http://identifiers.org/clinvar/45052 ^@ NM_004572.3(PKP2):c.195C>T (p.Ala65=) http://identifiers.org/clinvar/45053 ^@ NM_004572.3(PKP2):c.1995G>A (p.Pro665=) http://identifiers.org/clinvar/45054 ^@ NM_004572.3(PKP2):c.1999G>T (p.Glu667Ter) http://identifiers.org/clinvar/45055 ^@ NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) http://identifiers.org/clinvar/45056 ^@ NM_004572.3(PKP2):c.2083C>T (p.Arg695Cys) http://identifiers.org/clinvar/45057 ^@ NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) http://identifiers.org/clinvar/45058 ^@ NM_004572.3(PKP2):c.2129C>T (p.Thr710Met) http://identifiers.org/clinvar/45059 ^@ NM_004572.3(PKP2):c.2119C>T (p.Gln707Ter) http://identifiers.org/clinvar/45060 ^@ NM_004572.3(PKP2):c.2125C>T (p.Leu709Phe) http://identifiers.org/clinvar/45061 ^@ NM_004572.3(PKP2):c.214G>T (p.Val72Leu) http://identifiers.org/clinvar/45062 ^@ NM_004572.3(PKP2):c.2273G>A (p.Arg758Gln) http://identifiers.org/clinvar/45063 ^@ NM_004572.3(PKP2):c.2197_2202delCACACCinsG (p.His733Alafs) http://identifiers.org/clinvar/45064 ^@ NM_004572.3(PKP2):c.2299+7C>T http://identifiers.org/clinvar/45065 ^@ NM_004572.3(PKP2):c.2334_2338delTCCTGinsCAGT (p.Pro779Serfs) http://identifiers.org/clinvar/45066 ^@ NM_004572.3(PKP2):c.2360T>G (p.Leu787Arg) http://identifiers.org/clinvar/45067 ^@ NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) http://identifiers.org/clinvar/45068 ^@ NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) http://identifiers.org/clinvar/45069 ^@ NM_004572.3(PKP2):c.2487T>C (p.Asp829=) http://identifiers.org/clinvar/45070 ^@ NM_004572.3(PKP2):c.2489+13_2489+14insC http://identifiers.org/clinvar/45071 ^@ NM_004572.3(PKP2):c.2489+1G>T http://identifiers.org/clinvar/45072 ^@ NM_004572.3(PKP2):c.2552C>T (p.Thr851Met) http://identifiers.org/clinvar/45073 ^@ NM_004572.3(PKP2):c.2560C>T (p.His854Tyr) http://identifiers.org/clinvar/45074 ^@ NM_004572.3(PKP2):c.2578-10dupT http://identifiers.org/clinvar/45075 ^@ NM_004572.3(PKP2):c.269_272delTACA (p.Leu90Profs) http://identifiers.org/clinvar/45076 ^@ NM_004572.3(PKP2):c.302G>A (p.Arg101His) http://identifiers.org/clinvar/45077 ^@ NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) http://identifiers.org/clinvar/45078 ^@ NM_004572.3(PKP2):c.462C>G (p.Ser154Arg) http://identifiers.org/clinvar/45079 ^@ NM_004572.3(PKP2):c.464G>C (p.Ser155Thr) http://identifiers.org/clinvar/45080 ^@ NM_004572.3(PKP2):c.473G>A (p.Arg158Lys) http://identifiers.org/clinvar/45081 ^@ NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) http://identifiers.org/clinvar/45082 ^@ NM_004572.3(PKP2):c.516C>A (p.Ser172Arg) http://identifiers.org/clinvar/45083 ^@ NM_004572.3(PKP2):c.706G>T (p.Ala236Ser) http://identifiers.org/clinvar/45084 ^@ NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) http://identifiers.org/clinvar/45085 ^@ NM_004572.3(PKP2):c.791C>T (p.Ala264Val) http://identifiers.org/clinvar/45086 ^@ NM_004572.3(PKP2):c.819G>A (p.Pro273=) http://identifiers.org/clinvar/45087 ^@ NM_004572.3(PKP2):c.888C>T (p.His296=) http://identifiers.org/clinvar/45088 ^@ NM_004572.3(PKP2):c.918C>T (p.Pro306=) http://identifiers.org/clinvar/45089 ^@ NM_004572.3(PKP2):c.939C>T (p.Ser313=) http://identifiers.org/clinvar/45090 ^@ NM_004572.3(PKP2):c.951G>A (p.Ala317=) http://identifiers.org/clinvar/45091 ^@ NM_004572.3(PKP2):c.951_983del33insAC (p.His318Glnfs) http://identifiers.org/clinvar/45092 ^@ NM_004572.3(PKP2):c.972G>A (p.Ala324=) http://identifiers.org/clinvar/45093 ^@ NM_004612.3(TGFBR1):c.1032T>C (p.Asn344=) http://identifiers.org/clinvar/45094 ^@ NM_004612.3(TGFBR1):c.1152C>T (p.Leu384=) http://identifiers.org/clinvar/45095 ^@ NM_004612.3(TGFBR1):c.1216T>C (p.Leu406=) http://identifiers.org/clinvar/45096 ^@ NM_004612.3(TGFBR1):c.1387-4G>A http://identifiers.org/clinvar/45097 ^@ NM_004612.3(TGFBR1):c.528G>A (p.Thr176=) http://identifiers.org/clinvar/45098 ^@ NM_004612.3(TGFBR1):c.596G>A (p.Arg199Lys) http://identifiers.org/clinvar/45099 ^@ NM_004612.3(TGFBR1):c.779T>A (p.Leu260Gln) http://identifiers.org/clinvar/45100 ^@ NM_004700.3(KCNQ4):c.1188C>T (p.Pro396=) http://identifiers.org/clinvar/45101 ^@ NM_004700.3(KCNQ4):c.1365T>G (p.His455Gln) http://identifiers.org/clinvar/45102 ^@ NM_004700.3(KCNQ4):c.1657C>T (p.Leu553=) http://identifiers.org/clinvar/45103 ^@ NM_004700.3(KCNQ4):c.1665G>A (p.Pro555=) http://identifiers.org/clinvar/45104 ^@ NM_004700.3(KCNQ4):c.708+14G>C http://identifiers.org/clinvar/45105 ^@ NM_004700.3(KCNQ4):c.777T>C (p.Ala259=) http://identifiers.org/clinvar/45106 ^@ NM_004700.3(KCNQ4):c.841T>C (p.Leu281=) http://identifiers.org/clinvar/45107 ^@ NM_004700.3(KCNQ4):c.873G>A (p.Pro291=) http://identifiers.org/clinvar/45108 ^@ NM_004700.3(KCNQ4):c.879A>G (p.Thr293=) http://identifiers.org/clinvar/45109 ^@ NM_004817.3(TJP2):c.2992-8C>T http://identifiers.org/clinvar/45110 ^@ NM_004817.3(TJP2):c.3029C>T (p.Ser1010Phe) http://identifiers.org/clinvar/45111 ^@ NM_004985.4(KRAS):c.-160_-158dupAGC http://identifiers.org/clinvar/45112 ^@ NM_033360.3(KRAS):c.-178_-170delCGCGGCGGC http://identifiers.org/clinvar/45113 ^@ NM_033360.3(KRAS):c.-54C>T http://identifiers.org/clinvar/45114 ^@ NM_033360.3(KRAS):c.180T>A (p.Gly60=) http://identifiers.org/clinvar/45115 ^@ NM_033360.3(KRAS):c.182A>G (p.Gln61Arg) http://identifiers.org/clinvar/45116 ^@ NM_033360.3(KRAS):c.182A>T (p.Gln61Leu) http://identifiers.org/clinvar/45117 ^@ NM_033360.3(KRAS):c.183A>T (p.Gln61His) http://identifiers.org/clinvar/45118 ^@ NM_004985.4(KRAS):c.198A>G (p.Ala66=) http://identifiers.org/clinvar/45119 ^@ NM_004985.4(KRAS):c.24A>G (p.Val8=) http://identifiers.org/clinvar/45120 ^@ NM_033360.3(KRAS):c.261delT (p.Lys88Asnfs) http://identifiers.org/clinvar/45121 ^@ NM_033360.3(KRAS):c.33T>C (p.Ala11=) http://identifiers.org/clinvar/45122 ^@ NM_033360.3(KRAS):c.35G>C (p.Gly12Ala) http://identifiers.org/clinvar/45123 ^@ NM_033360.3(KRAS):c.37G>T (p.Gly13Cys) http://identifiers.org/clinvar/45124 ^@ NM_033360.3(KRAS):c.38G>T (p.Gly13Val) http://identifiers.org/clinvar/45125 ^@ NM_033360.3(KRAS):c.39C>T (p.Gly13=) http://identifiers.org/clinvar/45126 ^@ NM_004985.4(KRAS):c.454G>T (p.Val152Phe) http://identifiers.org/clinvar/45127 ^@ NM_004985.4(KRAS):c.466T>G (p.Phe156Val) http://identifiers.org/clinvar/45128 ^@ NM_004985.4(KRAS):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/45129 ^@ NM_004985.4(KRAS):c.531_533delGAA (p.Lys180del) http://identifiers.org/clinvar/45130 ^@ NM_004999.3(MYO6):c.*12C>T http://identifiers.org/clinvar/45131 ^@ NM_004999.3(MYO6):c.1025C>T (p.Ala342Val) http://identifiers.org/clinvar/45132 ^@ NM_004999.3(MYO6):c.1030G>A (p.Val344Ile) http://identifiers.org/clinvar/45133 ^@ NM_004999.3(MYO6):c.1120T>C (p.Tyr374His) http://identifiers.org/clinvar/45134 ^@ NM_004999.3(MYO6):c.1176A>G (p.Thr392=) http://identifiers.org/clinvar/45135 ^@ NM_004999.3(MYO6):c.1212A>G (p.Gly404=) http://identifiers.org/clinvar/45136 ^@ NM_004999.3(MYO6):c.1224-4A>G http://identifiers.org/clinvar/45137 ^@ NM_004999.3(MYO6):c.1546+7_1546+8delGT http://identifiers.org/clinvar/45138 ^@ NM_004999.3(MYO6):c.1656G>A (p.Lys552=) http://identifiers.org/clinvar/45139 ^@ NM_004999.3(MYO6):c.1695G>C (p.Leu565=) http://identifiers.org/clinvar/45140 ^@ NM_004999.3(MYO6):c.1722C>T (p.Asp574=) http://identifiers.org/clinvar/45141 ^@ NM_004999.3(MYO6):c.2111dupG (p.Tyr705Leufs) http://identifiers.org/clinvar/45142 ^@ NM_004999.3(MYO6):c.2170G>C (p.Asp724His) http://identifiers.org/clinvar/45143 ^@ NM_004999.3(MYO6):c.2472T>G (p.Ile824Met) http://identifiers.org/clinvar/45144 ^@ NM_004999.3(MYO6):c.2534C>T (p.Thr845Ile) http://identifiers.org/clinvar/45145 ^@ NM_004999.3(MYO6):c.2548C>G (p.Leu850Val) http://identifiers.org/clinvar/45146 ^@ NM_004999.3(MYO6):c.2635G>A (p.Asp879Asn) http://identifiers.org/clinvar/45147 ^@ NM_004999.3(MYO6):c.2658+17C>T http://identifiers.org/clinvar/45148 ^@ NM_004999.3(MYO6):c.2658+20A>C http://identifiers.org/clinvar/45149 ^@ NM_004999.3(MYO6):c.2658+8A>G http://identifiers.org/clinvar/45150 ^@ NM_004999.3(MYO6):c.2911A>G (p.Arg971Gly) http://identifiers.org/clinvar/45151 ^@ NM_004999.3(MYO6):c.2982G>A (p.Glu994=) http://identifiers.org/clinvar/45152 ^@ NM_004999.3(MYO6):c.3137+5G>A http://identifiers.org/clinvar/45153 ^@ NM_004999.3(MYO6):c.3176G>C (p.Arg1059Thr) http://identifiers.org/clinvar/45154 ^@ NM_004999.3(MYO6):c.3303C>T (p.Cys1101=) http://identifiers.org/clinvar/45155 ^@ NM_004999.3(MYO6):c.3333G>A (p.Val1111=) http://identifiers.org/clinvar/45156 ^@ NM_004999.3(MYO6):c.3384A>G (p.Gln1128=) http://identifiers.org/clinvar/45157 ^@ NM_004999.3(MYO6):c.3537C>T (p.Ala1179=) http://identifiers.org/clinvar/45158 ^@ NM_004999.3(MYO6):c.3563A>G (p.Lys1188Arg) http://identifiers.org/clinvar/45159 ^@ NM_004999.3(MYO6):c.3667G>A (p.Asp1223Asn) http://identifiers.org/clinvar/45160 ^@ NM_004999.3(MYO6):c.3824A>G (p.Tyr1275Cys) http://identifiers.org/clinvar/45161 ^@ NM_004999.3(MYO6):c.3833C>T (p.Ala1278Val) http://identifiers.org/clinvar/45162 ^@ NM_004999.3(MYO6):c.470A>G (p.Lys157Arg) http://identifiers.org/clinvar/45163 ^@ NM_004999.3(MYO6):c.475G>A (p.Glu159Lys) http://identifiers.org/clinvar/45164 ^@ NM_004999.3(MYO6):c.553+11T>C http://identifiers.org/clinvar/45165 ^@ NM_004999.3(MYO6):c.558C>A (p.Asn186Lys) http://identifiers.org/clinvar/45166 ^@ NM_004999.3(MYO6):c.600C>T (p.Asn200=) http://identifiers.org/clinvar/45167 ^@ NM_004999.3(MYO6):c.875T>C (p.Leu292Ser) http://identifiers.org/clinvar/45168 ^@ NM_004999.3(MYO6):c.951T>C (p.Phe317=) http://identifiers.org/clinvar/45169 ^@ NM_005159.4(ACTC1):c.-22-15C>G http://identifiers.org/clinvar/45170 ^@ NM_005159.4(ACTC1):c.1053G>A (p.Leu351=) http://identifiers.org/clinvar/45171 ^@ NM_005159.4(ACTC1):c.1092C>T (p.Tyr364=) http://identifiers.org/clinvar/45172 ^@ NM_005159.4(ACTC1):c.219C>T (p.Ile73=) http://identifiers.org/clinvar/45173 ^@ NM_005159.4(ACTC1):c.229A>G (p.Ile77Val) http://identifiers.org/clinvar/45174 ^@ NM_005159.4(ACTC1):c.294G>A (p.Val98=) http://identifiers.org/clinvar/45175 ^@ NM_005159.4(ACTC1):c.310C>T (p.Pro104Ser) http://identifiers.org/clinvar/45176 ^@ NM_005159.4(ACTC1):c.355G>C (p.Glu119Gln) http://identifiers.org/clinvar/45177 ^@ NM_005159.4(ACTC1):c.372C>G (p.Ile124Met) http://identifiers.org/clinvar/45178 ^@ NM_005159.4(ACTC1):c.454+9G>A http://identifiers.org/clinvar/45179 ^@ NM_005159.4(ACTC1):c.465G>A (p.Leu155=) http://identifiers.org/clinvar/45180 ^@ NM_005159.4(ACTC1):c.475G>A (p.Asp159Asn) http://identifiers.org/clinvar/45181 ^@ NM_005159.4(ACTC1):c.513C>T (p.Tyr171=) http://identifiers.org/clinvar/45182 ^@ NM_005159.4(ACTC1):c.516T>C (p.Ala172=) http://identifiers.org/clinvar/45183 ^@ NM_005159.4(ACTC1):c.553C>T (p.Arg185Trp) http://identifiers.org/clinvar/45184 ^@ NM_005159.4(ACTC1):c.616+1G>A http://identifiers.org/clinvar/45185 ^@ NM_005159.4(ACTC1):c.616+8T>C http://identifiers.org/clinvar/45186 ^@ NM_005159.4(ACTC1):c.635G>A (p.Arg212His) http://identifiers.org/clinvar/45187 ^@ NM_005159.4(ACTC1):c.798C>T (p.Pro266=) http://identifiers.org/clinvar/45188 ^@ NM_005159.4(ACTC1):c.7G>C (p.Asp3His) http://identifiers.org/clinvar/45189 ^@ NM_005159.4(ACTC1):c.808+3G>A http://identifiers.org/clinvar/45190 ^@ NM_005159.4(ACTC1):c.806T>C (p.Ile269Thr) http://identifiers.org/clinvar/45191 ^@ NM_005159.4(ACTC1):c.850A>T (p.Ile284Phe) http://identifiers.org/clinvar/45192 ^@ NM_005159.4(ACTC1):c.903A>G (p.Leu301=) http://identifiers.org/clinvar/45193 ^@ NM_005159.4(ACTC1):c.918T>A (p.Thr306=) http://identifiers.org/clinvar/45194 ^@ NM_005159.4(ACTC1):c.927T>C (p.Pro309=) http://identifiers.org/clinvar/45195 ^@ NM_005188.3(CBL):c.1071C>T (p.Pro357=) http://identifiers.org/clinvar/45196 ^@ NM_005188.3(CBL):c.1096-1G>C http://identifiers.org/clinvar/45197 ^@ NM_005188.3(CBL):c.1096-4_1096-1delAAAG http://identifiers.org/clinvar/45198 ^@ NM_005188.3(CBL):c.1227+4C>T http://identifiers.org/clinvar/45199 ^@ NM_005188.3(CBL):c.1228-10dupT http://identifiers.org/clinvar/45200 ^@ NM_005188.3(CBL):c.1380_1382dupTGA (p.Asp460_Glu461insAsp) http://identifiers.org/clinvar/45201 ^@ NM_005188.3(CBL):c.1485G>A (p.Pro495=) http://identifiers.org/clinvar/45202 ^@ NM_005188.3(CBL):c.1641T>C (p.Pro547=) http://identifiers.org/clinvar/45203 ^@ NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) http://identifiers.org/clinvar/45204 ^@ NM_005188.3(CBL):c.2434+15dupT http://identifiers.org/clinvar/45205 ^@ NM_005188.3(CBL):c.2486G>A (p.Arg829Gln) http://identifiers.org/clinvar/45206 ^@ NM_005188.3(CBL):c.2583C>T (p.Ile861=) http://identifiers.org/clinvar/45207 ^@ NM_005188.3(CBL):c.2589C>G (p.Asn863Lys) http://identifiers.org/clinvar/45208 ^@ NM_005188.3(CBL):c.2592C>T (p.Leu864=) http://identifiers.org/clinvar/45209 ^@ NM_005188.3(CBL):c.513T>C (p.Ser171=) http://identifiers.org/clinvar/45210 ^@ NM_005188.3(CBL):c.595A>G (p.Ile199Val) http://identifiers.org/clinvar/45211 ^@ NM_005188.3(CBL):c.869+4A>G http://identifiers.org/clinvar/45212 ^@ NM_005219.4(DIAPH1):c.117+14C>T http://identifiers.org/clinvar/45213 ^@ NM_005219.4(DIAPH1):c.1397-14C>T http://identifiers.org/clinvar/45214 ^@ NM_005219.4(DIAPH1):c.3096C>T (p.Pro1032=) http://identifiers.org/clinvar/45215 ^@ NM_005219.4(DIAPH1):c.3579C>T (p.Gly1193=) http://identifiers.org/clinvar/45216 ^@ NM_005219.4(DIAPH1):c.687T>C (p.Phe229=) http://identifiers.org/clinvar/45217 ^@ NM_005228.4(EGFR):c.2065G>C (p.Val689Leu) http://identifiers.org/clinvar/45218 ^@ NM_005228.4(EGFR):c.2117T>C (p.Ile706Thr) http://identifiers.org/clinvar/45219 ^@ NM_005228.4(EGFR):c.2126A>C (p.Glu709Ala) http://identifiers.org/clinvar/45220 ^@ NM_005228.4(EGFR):c.2127_2129delAAC (p.Glu709_Thr710delinsAsp) http://identifiers.org/clinvar/45221 ^@ NM_005228.4(EGFR):c.2127_2130delAACTinsC (p.Glu709_Thr710delinsAsp) http://identifiers.org/clinvar/45222 ^@ NM_005228.4(EGFR):c.2154G>A (p.Leu718=) http://identifiers.org/clinvar/45223 ^@ NM_005228.4(EGFR):c.2154G>T (p.Leu718=) http://identifiers.org/clinvar/45224 ^@ NM_005228.4(EGFR):c.2155G>C (p.Gly719Arg) http://identifiers.org/clinvar/45225 ^@ NM_005228.4(EGFR):c.2156G>C (p.Gly719Ala) http://identifiers.org/clinvar/45226 ^@ NM_005228.4(EGFR):c.2166G>A (p.Ala722=) http://identifiers.org/clinvar/45227 ^@ NM_005228.4(EGFR):c.2166G>C (p.Ala722=) http://identifiers.org/clinvar/45228 ^@ NM_005228.4(EGFR):c.2192G>A (p.Trp731Ter) http://identifiers.org/clinvar/45230 ^@ NM_005228.4(EGFR):c.2217_2234dup18 (p.Lys745_Glu746insIleProValAlaIleLys) http://identifiers.org/clinvar/45231 ^@ NM_005228.4(EGFR):c.2219T>C (p.Ile740Thr) http://identifiers.org/clinvar/45232 ^@ NM_005228.4(EGFR):c.2232C>T (p.Ile744=) http://identifiers.org/clinvar/45233 ^@ NM_005228.4(EGFR):c.2232_2249del18insAAA (p.Glu746_Ala750del) http://identifiers.org/clinvar/45234 ^@ NM_005228.4(EGFR):c.2239T>C (p.Leu747=) http://identifiers.org/clinvar/45235 ^@ NM_005228.4(EGFR):c.2239_2240delTTinsCC (p.Leu747Pro) http://identifiers.org/clinvar/45236 ^@ NM_005228.4(EGFR):c.2240T>C (p.Leu747Ser) http://identifiers.org/clinvar/45237 ^@ NM_005228.4(EGFR):c.2240_2248delTAAGAGAAG (p.Leu747_Ala750delinsSer) http://identifiers.org/clinvar/45238 ^@ NM_005228.4(EGFR):c.2247_2264del18 (p.Glu749_Ala755delinsAsp) http://identifiers.org/clinvar/45239 ^@ NM_005228.4(EGFR):c.2248G>C (p.Ala750Pro) http://identifiers.org/clinvar/45240 ^@ NM_005228.4(EGFR):c.2252_2277del26insAA (p.Thr751_Ile759delinsLys) http://identifiers.org/clinvar/45241 ^@ NM_005228.4(EGFR):c.2260A>G (p.Lys754Glu) http://identifiers.org/clinvar/45242 ^@ NM_005228.4(EGFR):c.2270A>T (p.Lys757Met) http://identifiers.org/clinvar/45243 ^@ NM_005228.4(EGFR):c.2280C>T (p.Leu760=) http://identifiers.org/clinvar/45244 ^@ NM_005228.4(EGFR):c.2281G>T (p.Asp761Tyr) http://identifiers.org/clinvar/45245 ^@ NM_005228.4(EGFR):c.2283+12_2283+147del http://identifiers.org/clinvar/45246 ^@ NM_005228.4(EGFR):c.2283+1G>A http://identifiers.org/clinvar/45247 ^@ NM_005228.4(EGFR):c.2284-5_2290del http://identifiers.org/clinvar/45248 ^@ NM_005228.4(EGFR):c.2284-5_2290dup http://identifiers.org/clinvar/45249 ^@ NM_005228.4(EGFR):c.2289C>G (p.Ala763=) http://identifiers.org/clinvar/45250 ^@ NM_005228.4(EGFR):c.2300C>T (p.Ala767Val) http://identifiers.org/clinvar/45251 ^@ NM_005228.4(EGFR):c.2303G>T (p.Ser768Ile) http://identifiers.org/clinvar/45252 ^@ NM_005228.4(EGFR):c.2303_2304delGCinsTT (p.Ser768Ile) http://identifiers.org/clinvar/45253 ^@ NM_005228.4(EGFR):c.2303_2311dupGCGTGGACA (p.Asp770_Asn771insSerValAsp) http://identifiers.org/clinvar/45254 ^@ NM_005228.4(EGFR):c.2305G>C (p.Val769Leu) http://identifiers.org/clinvar/45255 ^@ NM_005228.4(EGFR):c.2305G>T (p.Val769Leu) http://identifiers.org/clinvar/45256 ^@ NM_005228.4(EGFR):c.2310C>T (p.Asp770=) http://identifiers.org/clinvar/45257 ^@ NM_005228.4(EGFR):c.2310_2311insGGGTTG (p.Asp770_Asn771insGlyLeu) http://identifiers.org/clinvar/45258 ^@ NM_005228.4(EGFR):c.2312_2314dupACC (p.Asn771_Pro772insHis) http://identifiers.org/clinvar/45259 ^@ NM_005228.4(EGFR):c.2313_2321dupCCCCCACGT (p.Val774_Cys775insProHisVal) http://identifiers.org/clinvar/45260 ^@ NM_005228.4(EGFR):c.2315_2320dupCCCACG (p.His773_Val774insAlaHis) http://identifiers.org/clinvar/45261 ^@ NM_005228.4(EGFR):c.2317_2319dupCAC (p.His773_Val774insHis) http://identifiers.org/clinvar/45262 ^@ NM_005228.4(EGFR):c.2317_2322dupCACGTG (p.Val774_Cys775insHisVal) http://identifiers.org/clinvar/45263 ^@ NM_005228.4(EGFR):c.2320_2321insGCCACG (p.His773_Val774insGlyHis) http://identifiers.org/clinvar/45264 ^@ NM_005228.4(EGFR):c.2329C>T (p.Leu777=) http://identifiers.org/clinvar/45265 ^@ NM_005228.4(EGFR):c.2334G>T (p.Leu778=) http://identifiers.org/clinvar/45266 ^@ NM_005228.4(EGFR):c.2335G>T (p.Gly779Cys) http://identifiers.org/clinvar/45267 ^@ NM_005228.4(EGFR):c.2336G>T (p.Gly779Val) http://identifiers.org/clinvar/45268 ^@ NM_005228.4(EGFR):c.2340C>T (p.Ile780=) http://identifiers.org/clinvar/45269 ^@ NM_005228.4(EGFR):c.2349C>T (p.Thr783=) http://identifiers.org/clinvar/45270 ^@ NM_005228.4(EGFR):c.2355C>T (p.Thr785=) http://identifiers.org/clinvar/45271 ^@ NM_005228.4(EGFR):c.2361G>A (p.Gln787=) http://identifiers.org/clinvar/45272 ^@ NM_005228.4(EGFR):c.2409G>A (p.Arg803=) http://identifiers.org/clinvar/45273 ^@ NM_005228.4(EGFR):c.2439C>T (p.Tyr813=) http://identifiers.org/clinvar/45274 ^@ NM_005228.4(EGFR):c.2457G>A (p.Val819=) http://identifiers.org/clinvar/45275 ^@ NM_005228.4(EGFR):c.2464G>A (p.Ala822Thr) http://identifiers.org/clinvar/45276 ^@ NM_005228.4(EGFR):c.2491C>T (p.Arg831Cys) http://identifiers.org/clinvar/45277 ^@ NM_005228.4(EGFR):c.2497T>G (p.Leu833Val) http://identifiers.org/clinvar/45278 ^@ NM_005228.4(EGFR):c.2500G>C (p.Val834Leu) http://identifiers.org/clinvar/45279 ^@ NM_005228.4(EGFR):c.2500G>T (p.Val834Leu) http://identifiers.org/clinvar/45280 ^@ NM_005228.4(EGFR):c.2504A>T (p.His835Leu) http://identifiers.org/clinvar/45281 ^@ NM_005228.4(EGFR):c.2508C>T (p.Arg836=) http://identifiers.org/clinvar/45282 ^@ NM_005228.4(EGFR):c.2543C>T (p.Pro848Leu) http://identifiers.org/clinvar/45283 ^@ NM_005228.4(EGFR):c.2572C>A (p.Leu858Met) http://identifiers.org/clinvar/45284 ^@ NM_005228.4(EGFR):c.2572C>T (p.Leu858=) http://identifiers.org/clinvar/45285 ^@ NM_005228.4(EGFR):c.2574G>T (p.Leu858=) http://identifiers.org/clinvar/45286 ^@ NM_005228.4(EGFR):c.2580A>T (p.Lys860Asn) http://identifiers.org/clinvar/45287 ^@ NM_005228.4(EGFR):c.2582T>G (p.Leu861Arg) http://identifiers.org/clinvar/45288 ^@ NM_005228.4(EGFR):c.2592G>A (p.Ala864=) http://identifiers.org/clinvar/45289 ^@ NM_005228.4(EGFR):c.2597A>T (p.Glu866Val) http://identifiers.org/clinvar/45290 ^@ NM_005228.4(EGFR):c.2598G>A (p.Glu866=) http://identifiers.org/clinvar/45291 ^@ NM_005228.4(EGFR):c.2612C>G (p.Ala871Gly) http://identifiers.org/clinvar/45292 ^@ NM_005228.4(EGFR):c.2625+6G>T http://identifiers.org/clinvar/45293 ^@ NM_005228.4(EGFR):c.2642T>C (p.Met881Thr) http://identifiers.org/clinvar/45294 ^@ NM_005228.4(EGFR):c.2654C>T (p.Ser885Leu) http://identifiers.org/clinvar/45295 ^@ NM_005228.4(EGFR):c.2709T= (p.Thr903=) http://identifiers.org/clinvar/45296 ^@ NM_005228.4(EGFR):c.2748C>T (p.Asp916=) http://identifiers.org/clinvar/45297 ^@ NM_005228.4(EGFR):c.2862C>T (p.Asp954=) http://identifiers.org/clinvar/45298 ^@ NM_005343.3(HRAS):c.249C>T (p.Ala83=) http://identifiers.org/clinvar/45299 ^@ NM_005343.3(HRAS):c.282C>T (p.His94=) http://identifiers.org/clinvar/45300 ^@ NM_005343.3(HRAS):c.330C>T (p.Pro110=) http://identifiers.org/clinvar/45301 ^@ NM_005343.3(HRAS):c.358C>T (p.Leu120=) http://identifiers.org/clinvar/45302 ^@ NM_005343.3(HRAS):c.363T>C (p.Ala121=) http://identifiers.org/clinvar/45303 ^@ NM_005343.3(HRAS):c.401C>T (p.Ala134Val) http://identifiers.org/clinvar/45304 ^@ NM_005343.3(HRAS):c.412G>A (p.Gly138Ser) http://identifiers.org/clinvar/45305 ^@ NM_005343.3(HRAS):c.510G>A (p.Lys170=) http://identifiers.org/clinvar/45306 ^@ NM_005379.3(MYO1A):c.1185T>C (p.Phe395=) http://identifiers.org/clinvar/45307 ^@ NM_005379.3(MYO1A):c.1277C>T (p.Pro426Leu) http://identifiers.org/clinvar/45308 ^@ NM_005379.3(MYO1A):c.2238C>G (p.Ser746=) http://identifiers.org/clinvar/45309 ^@ NM_005379.3(MYO1A):c.2302C>T (p.Arg768Trp) http://identifiers.org/clinvar/45310 ^@ NM_005379.3(MYO1A):c.2572A>G (p.Lys858Glu) http://identifiers.org/clinvar/45311 ^@ NM_005379.3(MYO1A):c.2987C>T (p.Thr996Ile) http://identifiers.org/clinvar/45312 ^@ NM_005379.3(MYO1A):c.49G>C (p.Glu17Gln) http://identifiers.org/clinvar/45313 ^@ NM_005379.3(MYO1A):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/45314 ^@ NM_005422.2(TECTA):c.1111A>G (p.Arg371Gly) http://identifiers.org/clinvar/45315 ^@ NM_005422.2(TECTA):c.1485A>G (p.Ala495=) http://identifiers.org/clinvar/45316 ^@ NM_005422.2(TECTA):c.1834G>A (p.Asp612Asn) http://identifiers.org/clinvar/45317 ^@ NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys) http://identifiers.org/clinvar/45318 ^@ NM_005422.2(TECTA):c.2199C>G (p.Ser733=) http://identifiers.org/clinvar/45319 ^@ NM_005422.2(TECTA):c.2256C>T (p.Ile752=) http://identifiers.org/clinvar/45320 ^@ NM_005422.2(TECTA):c.240C>T (p.Ser80=) http://identifiers.org/clinvar/45321 ^@ NM_005422.2(TECTA):c.2511G>A (p.Leu837=) http://identifiers.org/clinvar/45322 ^@ NM_005422.2(TECTA):c.2795T>C (p.Val932Ala) http://identifiers.org/clinvar/45323 ^@ NM_005422.2(TECTA):c.2805T>C (p.Tyr935=) http://identifiers.org/clinvar/45324 ^@ NM_005422.2(TECTA):c.2945T>C (p.Leu982Pro) http://identifiers.org/clinvar/45325 ^@ NM_005422.2(TECTA):c.3012C>G (p.Thr1004=) http://identifiers.org/clinvar/45326 ^@ NM_005422.2(TECTA):c.3304G>A (p.Val1102Ile) http://identifiers.org/clinvar/45327 ^@ NM_005422.2(TECTA):c.4011G>A (p.Ala1337=) http://identifiers.org/clinvar/45328 ^@ NM_005422.2(TECTA):c.4074G>A (p.Thr1358=) http://identifiers.org/clinvar/45329 ^@ NM_005422.2(TECTA):c.4098G>A (p.Thr1366=) http://identifiers.org/clinvar/45330 ^@ NM_005422.2(TECTA):c.4105+13C>T http://identifiers.org/clinvar/45331 ^@ NM_005422.2(TECTA):c.4422C>T (p.Asn1474=) http://identifiers.org/clinvar/45332 ^@ NM_005422.2(TECTA):c.4533C>T (p.Phe1511=) http://identifiers.org/clinvar/45333 ^@ NM_005422.2(TECTA):c.4633G>A (p.Val1545Ile) http://identifiers.org/clinvar/45334 ^@ NM_005422.2(TECTA):c.4751G>C (p.Ser1584Thr) http://identifiers.org/clinvar/45335 ^@ NM_005422.2(TECTA):c.5012C>T (p.Ser1671Leu) http://identifiers.org/clinvar/45336 ^@ NM_005422.2(TECTA):c.5171G>A (p.Ser1724Asn) http://identifiers.org/clinvar/45337 ^@ NM_005422.2(TECTA):c.5304G>A (p.Ala1768=) http://identifiers.org/clinvar/45338 ^@ NM_005422.2(TECTA):c.5634C>T (p.Ser1878=) http://identifiers.org/clinvar/45339 ^@ NM_005422.2(TECTA):c.56A>G (p.Gln19Arg) http://identifiers.org/clinvar/45340 ^@ NM_005422.2(TECTA):c.5733T>G (p.Val1911=) http://identifiers.org/clinvar/45341 ^@ NM_005422.2(TECTA):c.624+11C>G http://identifiers.org/clinvar/45342 ^@ NM_005422.2(TECTA):c.6250+4T>C http://identifiers.org/clinvar/45343 ^@ NM_005633.3(SOS1):c.1074+5G>C http://identifiers.org/clinvar/45344 ^@ NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) http://identifiers.org/clinvar/45345 ^@ NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) http://identifiers.org/clinvar/45346 ^@ NM_005633.3(SOS1):c.1412G>C (p.Cys471Ser) http://identifiers.org/clinvar/45347 ^@ NM_005633.3(SOS1):c.1429C>A (p.Gln477Lys) http://identifiers.org/clinvar/45348 ^@ NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) http://identifiers.org/clinvar/45349 ^@ NM_005633.3(SOS1):c.2051C>T (p.Pro684Leu) http://identifiers.org/clinvar/45350 ^@ NM_005633.3(SOS1):c.2167+6T>G http://identifiers.org/clinvar/45351 ^@ NM_005633.3(SOS1):c.244A>G (p.Ile82Val) http://identifiers.org/clinvar/45352 ^@ NM_005633.3(SOS1):c.2489A>T (p.Asn830Ile) http://identifiers.org/clinvar/45353 ^@ NM_005633.3(SOS1):c.2673+14T>C http://identifiers.org/clinvar/45354 ^@ NM_005633.3(SOS1):c.2775A>T (p.Pro925=) http://identifiers.org/clinvar/45355 ^@ NM_005633.3(SOS1):c.281T>C (p.Ile94Thr) http://identifiers.org/clinvar/45356 ^@ NM_005633.3(SOS1):c.2838G>A (p.Glu946=) http://identifiers.org/clinvar/45357 ^@ NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) http://identifiers.org/clinvar/45358 ^@ NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) http://identifiers.org/clinvar/45359 ^@ NM_005633.3(SOS1):c.3303T>C (p.Val1101=) http://identifiers.org/clinvar/45360 ^@ NM_005633.3(SOS1):c.3357C>T (p.Thr1119=) http://identifiers.org/clinvar/45361 ^@ NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) http://identifiers.org/clinvar/45362 ^@ NM_005633.3(SOS1):c.3391+7A>G http://identifiers.org/clinvar/45363 ^@ NM_005633.3(SOS1):c.345+12_345+13dupCT http://identifiers.org/clinvar/45364 ^@ NM_005633.3(SOS1):c.350T>G (p.Val117Gly) http://identifiers.org/clinvar/45365 ^@ NM_005633.3(SOS1):c.3600C>A (p.Asp1200Glu) http://identifiers.org/clinvar/45366 ^@ NM_005633.3(SOS1):c.3703C>T (p.Pro1235Ser) http://identifiers.org/clinvar/45367 ^@ NM_005633.3(SOS1):c.3709C>A (p.Pro1237Thr) http://identifiers.org/clinvar/45368 ^@ NM_005633.3(SOS1):c.3721A>G (p.Lys1241Glu) http://identifiers.org/clinvar/45369 ^@ NM_005633.3(SOS1):c.3734G>T (p.Gly1245Val) http://identifiers.org/clinvar/45370 ^@ NM_005633.3(SOS1):c.373C>A (p.Gln125Lys) http://identifiers.org/clinvar/45371 ^@ NM_005633.3(SOS1):c.3952T>A (p.Ser1318Thr) http://identifiers.org/clinvar/45372 ^@ NM_005633.3(SOS1):c.511-12_511-11delCT http://identifiers.org/clinvar/45373 ^@ NM_005633.3(SOS1):c.512T>C (p.Val171Ala) http://identifiers.org/clinvar/45374 ^@ NM_005633.3(SOS1):c.553A>G (p.Ile185Val) http://identifiers.org/clinvar/45375 ^@ NM_005633.3(SOS1):c.597A>G (p.Gln199=) http://identifiers.org/clinvar/45376 ^@ NM_005633.3(SOS1):c.668T>C (p.Ile223Thr) http://identifiers.org/clinvar/45377 ^@ NM_005633.3(SOS1):c.841A>G (p.Ser281Gly) http://identifiers.org/clinvar/45378 ^@ NM_005633.3(SOS1):c.87+9C>T http://identifiers.org/clinvar/45379 ^@ NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) http://identifiers.org/clinvar/45380 ^@ NM_020297.3(ABCC9):c.1056C>T (p.Tyr352=) http://identifiers.org/clinvar/45381 ^@ NM_005633.3(SOS1):c.929G>A (p.Arg310His) http://identifiers.org/clinvar/45382 ^@ NM_005691.3(ABCC9):c.1063G>T (p.Ala355Ser) http://identifiers.org/clinvar/45383 ^@ NM_005691.3(ABCC9):c.1142T>A (p.Ile381Asn) http://identifiers.org/clinvar/45384 ^@ NM_020297.3(ABCC9):c.1164+11A>G http://identifiers.org/clinvar/45385 ^@ NM_005691.3(ABCC9):c.1165-6dupT http://identifiers.org/clinvar/45386 ^@ NM_020297.3(ABCC9):c.1296C= (p.Pro432=) http://identifiers.org/clinvar/45387 ^@ NM_005691.3(ABCC9):c.1358G>C (p.Gly453Ala) http://identifiers.org/clinvar/45388 ^@ NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) http://identifiers.org/clinvar/45389 ^@ NM_005691.3(ABCC9):c.1603T>C (p.Tyr535His) http://identifiers.org/clinvar/45390 ^@ NM_020297.3(ABCC9):c.1677G>A (p.Ala559=) http://identifiers.org/clinvar/45391 ^@ NM_020297.3(ABCC9):c.1848C>T (p.Asp616=) http://identifiers.org/clinvar/45392 ^@ NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) http://identifiers.org/clinvar/45393 ^@ NM_005691.3(ABCC9):c.1909G>A (p.Val637Ile) http://identifiers.org/clinvar/45394 ^@ NM_005691.3(ABCC9):c.1982G>A (p.Arg661His) http://identifiers.org/clinvar/45395 ^@ NM_020297.3(ABCC9):c.1987C>T (p.Arg663Cys) http://identifiers.org/clinvar/45396 ^@ NM_020297.3(ABCC9):c.2000C>A (p.Thr667Lys) http://identifiers.org/clinvar/45397 ^@ NM_005691.3(ABCC9):c.2050G>A (p.Gly684Ser) http://identifiers.org/clinvar/45398 ^@ NM_005691.3(ABCC9):c.2081G>A (p.Arg694Gln) http://identifiers.org/clinvar/45399 ^@ NM_005691.3(ABCC9):c.2093-7T>C http://identifiers.org/clinvar/45400 ^@ NM_005691.3(ABCC9):c.2149G>A (p.Ala717Thr) http://identifiers.org/clinvar/45401 ^@ NM_020297.3(ABCC9):c.2154C>T (p.Ile718=) http://identifiers.org/clinvar/45402 ^@ NM_020297.3(ABCC9):c.2199-11T>C http://identifiers.org/clinvar/45403 ^@ NM_020297.3(ABCC9):c.2262T>C (p.Tyr754=) http://identifiers.org/clinvar/45404 ^@ NM_005691.3(ABCC9):c.2339+13A>G http://identifiers.org/clinvar/45405 ^@ NM_020297.3(ABCC9):c.2424+9T>C http://identifiers.org/clinvar/45406 ^@ NM_005691.3(ABCC9):c.2425-13G>A http://identifiers.org/clinvar/45407 ^@ NM_005691.3(ABCC9):c.2862C>T (p.Asp954=) http://identifiers.org/clinvar/45408 ^@ NM_020297.3(ABCC9):c.3096+13C>T http://identifiers.org/clinvar/45409 ^@ NM_005691.3(ABCC9):c.3409G>A (p.Val1137Ile) http://identifiers.org/clinvar/45410 ^@ NM_005691.3(ABCC9):c.372T>C (p.Asn124=) http://identifiers.org/clinvar/45411 ^@ NM_005691.3(ABCC9):c.4062G>A (p.Ser1354=) http://identifiers.org/clinvar/45412 ^@ NM_020297.3(ABCC9):c.407-14C>A http://identifiers.org/clinvar/45413 ^@ NM_005691.3(ABCC9):c.420T>C (p.Tyr140=) http://identifiers.org/clinvar/45414 ^@ NM_020297.3(ABCC9):c.4352T>C (p.Val1451Ala) http://identifiers.org/clinvar/45415 ^@ NM_005691.3(ABCC9):c.4437T>C (p.Ile1479=) http://identifiers.org/clinvar/45416 ^@ NM_005691.3(ABCC9):c.4516C>T (p.Arg1506Cys) http://identifiers.org/clinvar/45417 ^@ NM_005691.3(ABCC9):c.4613A>G (p.Asn1538Ser) http://identifiers.org/clinvar/45418 ^@ NM_005691.3(ABCC9):c.573+6T>C http://identifiers.org/clinvar/45419 ^@ NM_020297.3(ABCC9):c.574-5C>A http://identifiers.org/clinvar/45420 ^@ NM_005691.3(ABCC9):c.798T>C (p.Asp266=) http://identifiers.org/clinvar/45421 ^@ NM_020297.3(ABCC9):c.816+11G>A http://identifiers.org/clinvar/45422 ^@ NM_020297.3(ABCC9):c.817-7delT http://identifiers.org/clinvar/45423 ^@ NM_005691.3(ABCC9):c.918G>A (p.Leu306=) http://identifiers.org/clinvar/45424 ^@ NM_020297.3(ABCC9):c.924T>C (p.Asp308=) http://identifiers.org/clinvar/45425 ^@ NM_005709.3(USH1C):c.1243G>A (p.Ala415Thr) http://identifiers.org/clinvar/45426 ^@ NM_005709.3(USH1C):c.1261G>A (p.Gly421Ser) http://identifiers.org/clinvar/45427 ^@ NM_005709.3(USH1C):c.1266G>A (p.Thr422=) http://identifiers.org/clinvar/45428 ^@ NM_006005.3(WFS1):c.1023C>T (p.Phe341=) http://identifiers.org/clinvar/45429 ^@ NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn) http://identifiers.org/clinvar/45430 ^@ NM_006005.3(WFS1):c.1134C>A (p.Thr378=) http://identifiers.org/clinvar/45431 ^@ NM_006005.3(WFS1):c.1185C>T (p.Val395=) http://identifiers.org/clinvar/45432 ^@ NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) http://identifiers.org/clinvar/45433 ^@ NM_006005.3(WFS1):c.1308C>T (p.Thr436=) http://identifiers.org/clinvar/45434 ^@ NM_006005.3(WFS1):c.1367G>A (p.Arg456His) http://identifiers.org/clinvar/45435 ^@ NM_006005.3(WFS1):c.143C>T (p.Ala48Val) http://identifiers.org/clinvar/45436 ^@ NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) http://identifiers.org/clinvar/45437 ^@ NM_006005.3(WFS1):c.1500C>T (p.Asn500=) http://identifiers.org/clinvar/45438 ^@ NM_006005.3(WFS1):c.1725C>T (p.Ala575=) http://identifiers.org/clinvar/45439 ^@ NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) http://identifiers.org/clinvar/45440 ^@ NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) http://identifiers.org/clinvar/45441 ^@ NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) http://identifiers.org/clinvar/45442 ^@ NM_006005.3(WFS1):c.1832G>A (p.Arg611His) http://identifiers.org/clinvar/45443 ^@ NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) http://identifiers.org/clinvar/45444 ^@ NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) http://identifiers.org/clinvar/45445 ^@ NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) http://identifiers.org/clinvar/45446 ^@ NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) http://identifiers.org/clinvar/45447 ^@ NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) http://identifiers.org/clinvar/45448 ^@ NM_006005.3(WFS1):c.2184C>T (p.Gly728=) http://identifiers.org/clinvar/45449 ^@ NM_006005.3(WFS1):c.21G>T (p.Pro7=) http://identifiers.org/clinvar/45450 ^@ NM_006005.3(WFS1):c.2202C>T (p.Leu734=) http://identifiers.org/clinvar/45451 ^@ NM_006005.3(WFS1):c.2247G>A (p.Thr749=) http://identifiers.org/clinvar/45452 ^@ NM_006005.3(WFS1):c.2322G>A (p.Lys774=) http://identifiers.org/clinvar/45453 ^@ NM_006005.3(WFS1):c.2335G>A (p.Val779Met) http://identifiers.org/clinvar/45454 ^@ NM_006005.3(WFS1):c.2390_2392dupACG (p.Asp797_Val798insAsp) http://identifiers.org/clinvar/45455 ^@ NM_006005.3(WFS1):c.2433G>A (p.Lys811=) http://identifiers.org/clinvar/45456 ^@ NM_006005.3(WFS1):c.2565A>G (p.Ser855=) http://identifiers.org/clinvar/45457 ^@ NM_006005.3(WFS1):c.350C>T (p.Thr117Met) http://identifiers.org/clinvar/45458 ^@ NM_006005.3(WFS1):c.402G>A (p.Ala134=) http://identifiers.org/clinvar/45459 ^@ NM_006005.3(WFS1):c.461-15C>T http://identifiers.org/clinvar/45460 ^@ NM_006005.3(WFS1):c.684C>G (p.Arg228=) http://identifiers.org/clinvar/45461 ^@ NM_006005.3(WFS1):c.83A>G (p.Asn28Ser) http://identifiers.org/clinvar/45462 ^@ NM_006005.3(WFS1):c.930A>G (p.Ala310=) http://identifiers.org/clinvar/45463 ^@ NM_006005.3(WFS1):c.997G>A (p.Val333Ile) http://identifiers.org/clinvar/45464 ^@ NM_006218.3(PIK3CA):c.1252G>A (p.Glu418Lys) http://identifiers.org/clinvar/45465 ^@ NM_006218.3(PIK3CA):c.1359_1373delAGATTTGCTGAACCC (p.Glu453_Pro458delinsAsp) http://identifiers.org/clinvar/45466 ^@ NM_006218.3(PIK3CA):c.1637A>G (p.Gln546Arg) http://identifiers.org/clinvar/45467 ^@ NM_006218.3(PIK3CA):c.3073A>G (p.Thr1025Ala) http://identifiers.org/clinvar/45468 ^@ NM_006218.3(PIK3CA):c.3075C>T (p.Thr1025=) http://identifiers.org/clinvar/45471 ^@ NM_006393.2(NEBL):c.1008+5A>G http://identifiers.org/clinvar/45472 ^@ NM_006393.2(NEBL):c.1051A>G (p.Met351Val) http://identifiers.org/clinvar/45473 ^@ NM_006393.2(NEBL):c.109T>C (p.Leu37=) http://identifiers.org/clinvar/45474 ^@ NM_006393.2(NEBL):c.1117-6T>G http://identifiers.org/clinvar/45475 ^@ NM_006393.2(NEBL):c.1132G>C (p.Asp378His) http://identifiers.org/clinvar/45476 ^@ NM_006393.2(NEBL):c.11C>T (p.Pro4Leu) http://identifiers.org/clinvar/45477 ^@ NM_006393.2(NEBL):c.1205A>C (p.Tyr402Ser) http://identifiers.org/clinvar/45478 ^@ NM_006393.2(NEBL):c.120A>G (p.Glu40=) http://identifiers.org/clinvar/45479 ^@ NM_006393.2(NEBL):c.1302C>G (p.Ile434Met) http://identifiers.org/clinvar/45480 ^@ NM_006393.2(NEBL):c.1449+14G>A http://identifiers.org/clinvar/45481 ^@ NM_006393.2(NEBL):c.14T>C (p.Val5Ala) http://identifiers.org/clinvar/45482 ^@ NM_006393.2(NEBL):c.153+15T>G http://identifiers.org/clinvar/45483 ^@ NM_006393.2(NEBL):c.154-11C>A http://identifiers.org/clinvar/45484 ^@ NM_006393.2(NEBL):c.1671+9T>C http://identifiers.org/clinvar/45485 ^@ NM_006393.2(NEBL):c.1775C>A (p.Ala592Glu) http://identifiers.org/clinvar/45486 ^@ NM_006393.2(NEBL):c.180G>C (p.Lys60Asn) http://identifiers.org/clinvar/45487 ^@ NM_006393.2(NEBL):c.1861A>G (p.Ile621Val) http://identifiers.org/clinvar/45488 ^@ NM_006393.2(NEBL):c.1962T>A (p.Asn654Lys) http://identifiers.org/clinvar/45489 ^@ NM_006393.2(NEBL):c.2031G>A (p.Arg677=) http://identifiers.org/clinvar/45490 ^@ NM_006393.2(NEBL):c.2057T>C (p.Val686Ala) http://identifiers.org/clinvar/45491 ^@ NM_006393.2(NEBL):c.2080C>T (p.Arg694Trp) http://identifiers.org/clinvar/45492 ^@ NM_006393.2(NEBL):c.2176G>A (p.Ala726Thr) http://identifiers.org/clinvar/45493 ^@ NM_006393.2(NEBL):c.2182A>G (p.Thr728Ala) http://identifiers.org/clinvar/45494 ^@ NM_006393.2(NEBL):c.2482A>G (p.Ile828Val) http://identifiers.org/clinvar/45495 ^@ NM_213569.2(NEBL):c.357+73457dupT http://identifiers.org/clinvar/45496 ^@ NM_006393.2(NEBL):c.2654C>T (p.Ser885Phe) http://identifiers.org/clinvar/45497 ^@ NM_006393.2(NEBL):c.2997A>G (p.Thr999=) http://identifiers.org/clinvar/45498 ^@ NM_006393.2(NEBL):c.480+3A>G http://identifiers.org/clinvar/45499 ^@ NM_006393.2(NEBL):c.604G>A (p.Gly202Arg) http://identifiers.org/clinvar/45500 ^@ NM_006393.2(NEBL):c.656C>A (p.Ala219Asp) http://identifiers.org/clinvar/45501 ^@ NM_006783.4(GJB6):c.15G>A (p.Thr5=) http://identifiers.org/clinvar/45502 ^@ NM_006783.4(GJB6):c.476A>G (p.Asn159Ser) http://identifiers.org/clinvar/45503 ^@ NM_006783.4(GJB6):c.489G>A (p.Leu163=) http://identifiers.org/clinvar/45504 ^@ NM_006783.4(GJB6):c.595T>A (p.Ser199Thr) http://identifiers.org/clinvar/45505 ^@ NM_006783.4(GJB6):c.607A>G (p.Met203Val) http://identifiers.org/clinvar/45506 ^@ NM_006783.4(GJB6):c.60_61delCGinsT (p.Lys22Argfs) http://identifiers.org/clinvar/45507 ^@ NM_006783.4(GJB6):c.619G>A (p.Val207Met) http://identifiers.org/clinvar/45508 ^@ NM_007078.2(LDB3):c.*13G>T http://identifiers.org/clinvar/45509 ^@ NM_007078.2(LDB3):c.1014A>G (p.Thr338=) http://identifiers.org/clinvar/45510 ^@ NM_007078.2(LDB3):c.1041C>T (p.Ser347=) http://identifiers.org/clinvar/45511 ^@ NM_001080114.1(LDB3):c.781G>A (p.Ala261Thr) http://identifiers.org/clinvar/45512 ^@ NM_007078.2(LDB3):c.1263G>A (p.Gly421=) http://identifiers.org/clinvar/45513 ^@ NM_007078.2(LDB3):c.1317C>T (p.Pro439=) http://identifiers.org/clinvar/45514 ^@ NM_007078.2(LDB3):c.1320_1343del24 (p.Ala442_Pro449del) http://identifiers.org/clinvar/45515 ^@ NM_007078.2(LDB3):c.1320_1343dup24 (p.Pro449_Val450insAlaProAlaTyrThrProSerPro) http://identifiers.org/clinvar/45516 ^@ NM_007078.2(LDB3):c.1339C>G (p.Pro447Ala) http://identifiers.org/clinvar/45517 ^@ NM_001080116.1(LDB3):c.139G>A (p.Asp47Asn) http://identifiers.org/clinvar/45518 ^@ NM_007078.2(LDB3):c.144C>T (p.Leu48=) http://identifiers.org/clinvar/45519 ^@ NM_007078.2(LDB3):c.1453G>T (p.Ala485Ser) http://identifiers.org/clinvar/45520 ^@ NM_001080114.1(LDB3):c.1130G>A (p.Arg377His) http://identifiers.org/clinvar/45521 ^@ NM_007078.2(LDB3):c.1471G>T (p.Val491Leu) http://identifiers.org/clinvar/45522 ^@ NM_001080114.1(LDB3):c.1142T>A (p.Val381Glu) http://identifiers.org/clinvar/45523 ^@ NM_007078.2(LDB3):c.1475C>T (p.Thr492Ile) http://identifiers.org/clinvar/45524 ^@ NM_007078.2(LDB3):c.147G>A (p.Val49=) http://identifiers.org/clinvar/45525 ^@ NM_007078.2(LDB3):c.1503C>T (p.Ala501=) http://identifiers.org/clinvar/45526 ^@ NM_007078.2(LDB3):c.1506G>A (p.Pro502=) http://identifiers.org/clinvar/45527 ^@ NM_001080114.1(LDB3):c.1205A>C (p.Gln402Pro) http://identifiers.org/clinvar/45528 ^@ NM_007078.2(LDB3):c.1572G>A (p.Ala524=) http://identifiers.org/clinvar/45529 ^@ NM_007078.2(LDB3):c.1586C>G (p.Pro529Arg) http://identifiers.org/clinvar/45530 ^@ NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) http://identifiers.org/clinvar/45531 ^@ NM_007078.2(LDB3):c.1653C>T (p.Cys551=) http://identifiers.org/clinvar/45532 ^@ NM_001080114.1(LDB3):c.1342A>G (p.Ile448Val) http://identifiers.org/clinvar/45533 ^@ NM_007078.2(LDB3):c.1823C>T (p.Pro608Leu) http://identifiers.org/clinvar/45534 ^@ NM_007078.2(LDB3):c.1858-10T>C http://identifiers.org/clinvar/45535 ^@ NM_007078.2(LDB3):c.1907G>A (p.Cys636Tyr) http://identifiers.org/clinvar/45536 ^@ NM_007078.2(LDB3):c.1910C>T (p.Ala637Val) http://identifiers.org/clinvar/45537 ^@ NM_007078.2(LDB3):c.1971C>T (p.Cys657=) http://identifiers.org/clinvar/45538 ^@ NM_007078.2(LDB3):c.2016C>T (p.Cys672=) http://identifiers.org/clinvar/45539 ^@ NM_007078.2(LDB3):c.2078C>A (p.Thr693Asn) http://identifiers.org/clinvar/45540 ^@ NM_007078.2(LDB3):c.2155A>G (p.Lys719Glu) http://identifiers.org/clinvar/45541 ^@ NM_001080116.1(LDB3):c.236C>G (p.Thr79Ser) http://identifiers.org/clinvar/45542 ^@ NM_007078.2(LDB3):c.273G>A (p.Thr91=) http://identifiers.org/clinvar/45543 ^@ NM_007078.2(LDB3):c.343G>A (p.Gly115Ser) http://identifiers.org/clinvar/45544 ^@ NM_007078.2(LDB3):c.352G>A (p.Val118Met) http://identifiers.org/clinvar/45545 ^@ NM_007078.2(LDB3):c.356C>T (p.Ala119Val) http://identifiers.org/clinvar/45546 ^@ NM_007078.2(LDB3):c.530C>A (p.Ala177Asp) http://identifiers.org/clinvar/45547 ^@ NM_007078.2(LDB3):c.576G>A (p.Pro192=) http://identifiers.org/clinvar/45548 ^@ NM_007078.2(LDB3):c.576G>T (p.Pro192=) http://identifiers.org/clinvar/45549 ^@ NM_007078.2(LDB3):c.600C>T (p.Gly200=) http://identifiers.org/clinvar/45550 ^@ NM_007078.2(LDB3):c.609G>A (p.Ser203=) http://identifiers.org/clinvar/45551 ^@ NM_007078.2(LDB3):c.664G>A (p.Ala222Thr) http://identifiers.org/clinvar/45552 ^@ NM_007078.2(LDB3):c.689+10G>A http://identifiers.org/clinvar/45553 ^@ NM_007078.2(LDB3):c.689+15T>C http://identifiers.org/clinvar/45554 ^@ NM_007078.2(LDB3):c.732C>T (p.Pro244=) http://identifiers.org/clinvar/45555 ^@ NM_001080116.1(LDB3):c.652C>T (p.Arg218Cys) http://identifiers.org/clinvar/45556 ^@ NM_001080116.1(LDB3):c.685C>T (p.Arg229Cys) http://identifiers.org/clinvar/45557 ^@ NM_001080116.1(LDB3):c.726C>T (p.Asp242=) http://identifiers.org/clinvar/45558 ^@ NM_007078.2(LDB3):c.899C>A (p.Thr300Asn) http://identifiers.org/clinvar/45559 ^@ NM_007078.2(LDB3):c.93+7G>T http://identifiers.org/clinvar/45560 ^@ NM_007078.2(LDB3):c.954C>T (p.Pro318=) http://identifiers.org/clinvar/45561 ^@ NM_007078.2(LDB3):c.993G>A (p.Ala331=) http://identifiers.org/clinvar/45562 ^@ NM_007373.3(SHOC2):c.-66A>G http://identifiers.org/clinvar/45563 ^@ NM_013296.4(GPSM2):c.1066G>A (p.Gly356Arg) http://identifiers.org/clinvar/45564 ^@ NM_013296.4(GPSM2):c.1370C>T (p.Thr457Met) http://identifiers.org/clinvar/45565 ^@ NM_013296.4(GPSM2):c.1440+15A>G http://identifiers.org/clinvar/45566 ^@ NM_013296.4(GPSM2):c.2043G>A (p.Ser681=) http://identifiers.org/clinvar/45567 ^@ NM_013296.4(GPSM2):c.278+5T>C http://identifiers.org/clinvar/45568 ^@ NM_013296.4(GPSM2):c.380G>A (p.Arg127Gln) http://identifiers.org/clinvar/45569 ^@ NM_013296.4(GPSM2):c.529G>A (p.Ala177Thr) http://identifiers.org/clinvar/45570 ^@ NM_013296.4(GPSM2):c.753A>G (p.Ala251=) http://identifiers.org/clinvar/45571 ^@ NM_013296.4(GPSM2):c.828A>G (p.Lys276=) http://identifiers.org/clinvar/45572 ^@ NM_013296.4(GPSM2):c.87G>A (p.Leu29=) http://identifiers.org/clinvar/45573 ^@ NM_001122606.1(LAMP2):c.1093+2514G>A http://identifiers.org/clinvar/45574 ^@ NM_014000.2(VCL):c.1177-15C>T http://identifiers.org/clinvar/45575 ^@ NM_014000.2(VCL):c.1237G>A (p.Ala413Thr) http://identifiers.org/clinvar/45576 ^@ NM_014000.2(VCL):c.1275T>C (p.Pro425=) http://identifiers.org/clinvar/45577 ^@ NM_014000.2(VCL):c.1317T>C (p.Ser439=) http://identifiers.org/clinvar/45578 ^@ NM_014000.2(VCL):c.1390A>C (p.Lys464Gln) http://identifiers.org/clinvar/45579 ^@ NM_014000.2(VCL):c.1407C>T (p.Ala469=) http://identifiers.org/clinvar/45580 ^@ NM_014000.2(VCL):c.1506G>A (p.Arg502=) http://identifiers.org/clinvar/45581 ^@ NM_014000.2(VCL):c.1542C>T (p.Val514=) http://identifiers.org/clinvar/45582 ^@ NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) http://identifiers.org/clinvar/45583 ^@ NM_014000.2(VCL):c.1557C>A (p.Ile519=) http://identifiers.org/clinvar/45584 ^@ NM_014000.2(VCL):c.1572C>T (p.Ala524=) http://identifiers.org/clinvar/45585 ^@ NM_014000.2(VCL):c.1626C>T (p.Leu542=) http://identifiers.org/clinvar/45586 ^@ NM_014000.2(VCL):c.1639C>T (p.Arg547Ter) http://identifiers.org/clinvar/45587 ^@ NM_014000.2(VCL):c.1671C>T (p.Asp557=) http://identifiers.org/clinvar/45588 ^@ NM_014000.2(VCL):c.1716T>G (p.Leu572=) http://identifiers.org/clinvar/45589 ^@ NM_014000.2(VCL):c.1788A>C (p.Ser596=) http://identifiers.org/clinvar/45590 ^@ NM_014000.2(VCL):c.1792G>A (p.Val598Ile) http://identifiers.org/clinvar/45591 ^@ NM_014000.2(VCL):c.1798A>C (p.Ser600Arg) http://identifiers.org/clinvar/45592 ^@ NM_014000.2(VCL):c.1842G>A (p.Thr614=) http://identifiers.org/clinvar/45593 ^@ NM_014000.2(VCL):c.1844C>T (p.Ala615Val) http://identifiers.org/clinvar/45594 ^@ NM_014000.2(VCL):c.1907A>G (p.His636Arg) http://identifiers.org/clinvar/45595 ^@ NM_014000.2(VCL):c.2388G>A (p.Pro796=) http://identifiers.org/clinvar/45596 ^@ NM_014000.2(VCL):c.2444A>G (p.Lys815Arg) http://identifiers.org/clinvar/45597 ^@ NM_014000.2(VCL):c.2746-14C>T http://identifiers.org/clinvar/45598 ^@ NM_014000.2(VCL):c.2796T>C (p.Asp932=) http://identifiers.org/clinvar/45599 ^@ NM_014000.2(VCL):c.2801C>T (p.Ala934Val) http://identifiers.org/clinvar/45600 ^@ NM_014000.2(VCL):c.2814C>G (p.Gly938=) http://identifiers.org/clinvar/45601 ^@ NM_014000.2(VCL):c.2852C>G (p.Pro951Arg) http://identifiers.org/clinvar/45602 ^@ NM_014000.2(VCL):c.2862_2864delGTT (p.Leu955del) http://identifiers.org/clinvar/45603 ^@ NM_014000.2(VCL):c.2969C>T (p.Ala990Val) http://identifiers.org/clinvar/45604 ^@ NM_014000.2(VCL):c.3066C>T (p.Ile1022=) http://identifiers.org/clinvar/45605 ^@ NM_014000.2(VCL):c.3092G>A (p.Arg1031Gln) http://identifiers.org/clinvar/45606 ^@ NM_014000.2(VCL):c.313C>T (p.Arg105Ter) http://identifiers.org/clinvar/45607 ^@ NM_014000.2(VCL):c.31A>G (p.Ser11Gly) http://identifiers.org/clinvar/45608 ^@ NM_014000.2(VCL):c.3226C>T (p.Arg1076Trp) http://identifiers.org/clinvar/45609 ^@ NM_014000.2(VCL):c.3258+10A>T http://identifiers.org/clinvar/45610 ^@ NM_014000.2(VCL):c.3327T>C (p.Ala1109=) http://identifiers.org/clinvar/45611 ^@ NM_014000.2(VCL):c.3373C>T (p.Arg1125Cys) http://identifiers.org/clinvar/45612 ^@ NM_014000.2(VCL):c.366G>A (p.Leu122=) http://identifiers.org/clinvar/45613 ^@ NM_014000.2(VCL):c.378C>T (p.Phe126=) http://identifiers.org/clinvar/45614 ^@ NM_014000.2(VCL):c.500-5C>G http://identifiers.org/clinvar/45615 ^@ NM_014000.2(VCL):c.562C>T (p.Arg188Ter) http://identifiers.org/clinvar/45616 ^@ NM_014000.2(VCL):c.565G>C (p.Val189Leu) http://identifiers.org/clinvar/45617 ^@ NM_014000.2(VCL):c.590C>T (p.Thr197Ile) http://identifiers.org/clinvar/45618 ^@ NM_014000.2(VCL):c.659dupA (p.Asn220Lysfs) http://identifiers.org/clinvar/45619 ^@ NM_014000.2(VCL):c.660C>T (p.Asn220=) http://identifiers.org/clinvar/45620 ^@ NM_014000.2(VCL):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/45621 ^@ NM_014000.2(VCL):c.854G>A (p.Arg285His) http://identifiers.org/clinvar/45622 ^@ NM_014000.2(VCL):c.945C>A (p.Gly315=) http://identifiers.org/clinvar/45623 ^@ NM_014000.2(VCL):c.952C>T (p.Arg318Cys) http://identifiers.org/clinvar/45625 ^@ NM_014391.2(ANKRD1):c.148G>C (p.Ala50Pro) http://identifiers.org/clinvar/45626 ^@ NM_014391.2(ANKRD1):c.154C>T (p.Pro52Ser) http://identifiers.org/clinvar/45627 ^@ NM_014391.2(ANKRD1):c.196C>G (p.Arg66Gly) http://identifiers.org/clinvar/45628 ^@ NM_014391.2(ANKRD1):c.197G>A (p.Arg66Gln) http://identifiers.org/clinvar/45629 ^@ NM_014391.2(ANKRD1):c.208-15G>A http://identifiers.org/clinvar/45630 ^@ NM_014391.2(ANKRD1):c.319G>T (p.Val107Leu) http://identifiers.org/clinvar/45631 ^@ NM_014391.2(ANKRD1):c.346-17_346-10delATTTATTT http://identifiers.org/clinvar/45632 ^@ NM_014391.2(ANKRD1):c.346-19_346-14delTTATTT http://identifiers.org/clinvar/45633 ^@ NM_014391.2(ANKRD1):c.348G>A (p.Thr116=) http://identifiers.org/clinvar/45634 ^@ NM_014391.2(ANKRD1):c.417C>A (p.Phe139Leu) http://identifiers.org/clinvar/45635 ^@ NM_014391.2(ANKRD1):c.560C>T (p.Ser187Phe) http://identifiers.org/clinvar/45636 ^@ NM_014391.2(ANKRD1):c.652-10A>T http://identifiers.org/clinvar/45637 ^@ NM_015404.3(WHRN):c.1158C>G (p.Asn386Lys) http://identifiers.org/clinvar/45638 ^@ NM_014391.2(ANKRD1):c.805C>T (p.Arg269Ter) http://identifiers.org/clinvar/45639 ^@ NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) http://identifiers.org/clinvar/45640 ^@ NM_015404.3(WHRN):c.1091A= (p.His364=) http://identifiers.org/clinvar/45641 ^@ NM_015404.3(WHRN):c.1135C>T (p.Arg379Trp) http://identifiers.org/clinvar/45642 ^@ NM_015404.3(WHRN):c.1149C>T (p.Thr383=) http://identifiers.org/clinvar/45643 ^@ NM_015404.3(WHRN):c.1176C>T (p.Gly392=) http://identifiers.org/clinvar/45644 ^@ NM_015404.3(WHRN):c.117G>A (p.Val39=) http://identifiers.org/clinvar/45645 ^@ NM_015404.3(WHRN):c.1267C>T (p.Arg423Ter) http://identifiers.org/clinvar/45646 ^@ NM_015404.3(WHRN):c.1291C>T (p.Arg431Trp) http://identifiers.org/clinvar/45647 ^@ NM_015404.3(WHRN):c.1318G>A (p.Ala440Thr) http://identifiers.org/clinvar/45648 ^@ NM_015404.3(WHRN):c.1349G>A (p.Arg450His) http://identifiers.org/clinvar/45649 ^@ NM_015404.3(WHRN):c.1352G>A (p.Gly451Asp) http://identifiers.org/clinvar/45650 ^@ NM_015404.3(WHRN):c.1353T>C (p.Gly451=) http://identifiers.org/clinvar/45651 ^@ NM_015404.3(WHRN):c.1360G>A (p.Val454Ile) http://identifiers.org/clinvar/45652 ^@ NM_015404.3(WHRN):c.1365T>C (p.Ser455=) http://identifiers.org/clinvar/45653 ^@ NM_015404.3(WHRN):c.1417-8G>A http://identifiers.org/clinvar/45654 ^@ NM_015404.3(WHRN):c.1454C>T (p.Pro485Leu) http://identifiers.org/clinvar/45655 ^@ NM_015404.3(WHRN):c.1515G>A (p.Ala505=) http://identifiers.org/clinvar/45656 ^@ NM_015404.3(WHRN):c.1542G>A (p.Gly514=) http://identifiers.org/clinvar/45657 ^@ NM_015404.3(WHRN):c.1578T>C (p.Gly526=) http://identifiers.org/clinvar/45658 ^@ NM_015404.3(WHRN):c.1608C>G (p.Thr536=) http://identifiers.org/clinvar/45659 ^@ NM_015404.3(WHRN):c.1625G>A (p.Arg542Lys) http://identifiers.org/clinvar/45660 ^@ NM_015404.3(WHRN):c.1627-12G>A http://identifiers.org/clinvar/45661 ^@ NM_015404.3(WHRN):c.1684C>G (p.Pro562Ala) http://identifiers.org/clinvar/45662 ^@ NM_015404.3(WHRN):c.1696G>C (p.Val566Leu) http://identifiers.org/clinvar/45663 ^@ NM_015404.3(WHRN):c.1838T>C (p.Met613Thr) http://identifiers.org/clinvar/45664 ^@ NM_015404.3(WHRN):c.191C>A (p.Ala64Asp) http://identifiers.org/clinvar/45665 ^@ NM_015404.3(WHRN):c.2046G>C (p.Arg682=) http://identifiers.org/clinvar/45666 ^@ NM_015404.3(WHRN):c.2056C>A (p.Pro686Thr) http://identifiers.org/clinvar/45667 ^@ NM_015404.3(WHRN):c.2085G>A (p.Glu695=) http://identifiers.org/clinvar/45669 ^@ NM_015404.3(WHRN):c.2283C>T (p.Ser761=) http://identifiers.org/clinvar/45670 ^@ NM_015404.3(WHRN):c.2293G>C (p.Gly765Arg) http://identifiers.org/clinvar/45671 ^@ NM_015404.3(WHRN):c.229A>T (p.Thr77Ser) http://identifiers.org/clinvar/45672 ^@ NM_015404.3(WHRN):c.2348T>C (p.Val783Ala) http://identifiers.org/clinvar/45673 ^@ NM_015404.3(WHRN):c.2354C>T (p.Thr785Ile) http://identifiers.org/clinvar/45674 ^@ NM_015404.3(WHRN):c.2388C>A (p.Asn796Lys) http://identifiers.org/clinvar/45675 ^@ NM_015404.3(WHRN):c.2439G>A (p.Thr813=) http://identifiers.org/clinvar/45676 ^@ NM_015404.3(WHRN):c.2586C>A (p.His862Gln) http://identifiers.org/clinvar/45677 ^@ NM_015404.3(WHRN):c.33C>G (p.Ser11Arg) http://identifiers.org/clinvar/45678 ^@ NM_015404.3(WHRN):c.619G>T (p.Ala207Ser) http://identifiers.org/clinvar/45679 ^@ NM_015404.3(WHRN):c.643delG (p.Val215Cysfs) http://identifiers.org/clinvar/45680 ^@ NM_015404.3(WHRN):c.667C>T (p.Arg223Cys) http://identifiers.org/clinvar/45681 ^@ NM_015404.3(WHRN):c.668G>A (p.Arg223His) http://identifiers.org/clinvar/45682 ^@ NM_015404.3(WHRN):c.744G>A (p.Ser248=) http://identifiers.org/clinvar/45683 ^@ NM_015404.3(WHRN):c.764G>A (p.Gly255Asp) http://identifiers.org/clinvar/45684 ^@ NM_016203.3(PRKAG2):c.*3G>A http://identifiers.org/clinvar/45685 ^@ NM_016203.3(PRKAG2):c.1071A>T (p.Thr357=) http://identifiers.org/clinvar/45686 ^@ NM_016203.3(PRKAG2):c.1098A>G (p.Pro366=) http://identifiers.org/clinvar/45687 ^@ NM_016203.3(PRKAG2):c.1106+9G>C http://identifiers.org/clinvar/45688 ^@ NM_016203.3(PRKAG2):c.111T>A (p.Ile37=) http://identifiers.org/clinvar/45689 ^@ NM_016203.3(PRKAG2):c.114+12C>T http://identifiers.org/clinvar/45690 ^@ NM_016203.3(PRKAG2):c.114G>A (p.Pro38=) http://identifiers.org/clinvar/45691 ^@ NM_016203.3(PRKAG2):c.1152A>T (p.Arg384Ser) http://identifiers.org/clinvar/45692 ^@ NM_016203.3(PRKAG2):c.123C>T (p.Ser41=) http://identifiers.org/clinvar/45693 ^@ NM_016203.3(PRKAG2):c.1267C>A (p.Gln423Lys) http://identifiers.org/clinvar/45694 ^@ NM_016203.3(PRKAG2):c.130G>A (p.Ala44Thr) http://identifiers.org/clinvar/45695 ^@ NM_016203.3(PRKAG2):c.1315A>G (p.Ile439Val) http://identifiers.org/clinvar/45696 ^@ NM_016203.3(PRKAG2):c.1318C>T (p.His440Tyr) http://identifiers.org/clinvar/45697 ^@ NM_016203.3(PRKAG2):c.1390G>A (p.Asp464Asn) http://identifiers.org/clinvar/45698 ^@ NM_016203.3(PRKAG2):c.1440T>C (p.Asn480=) http://identifiers.org/clinvar/45699 ^@ NM_016203.3(PRKAG2):c.1584+7C>T http://identifiers.org/clinvar/45700 ^@ NM_016203.3(PRKAG2):c.1585-4G>A http://identifiers.org/clinvar/45701 ^@ NM_016203.3(PRKAG2):c.1592G>T (p.Arg531Leu) http://identifiers.org/clinvar/45702 ^@ NM_016203.3(PRKAG2):c.1623T>C (p.Ile541=) http://identifiers.org/clinvar/45703 ^@ NM_016203.3(PRKAG2):c.1644G>A (p.Ser548=) http://identifiers.org/clinvar/45704 ^@ NM_016203.3(PRKAG2):c.166G>A (p.Gly56Arg) http://identifiers.org/clinvar/45705 ^@ NM_016203.3(PRKAG2):c.1687C>T (p.Gln563Ter) http://identifiers.org/clinvar/45706 ^@ NM_016203.3(PRKAG2):c.1704G>A (p.Thr568=) http://identifiers.org/clinvar/45707 ^@ NM_016203.3(PRKAG2):c.186G>T (p.Lys62Asn) http://identifiers.org/clinvar/45708 ^@ NM_016203.3(PRKAG2):c.206C>T (p.Pro69Leu) http://identifiers.org/clinvar/45709 ^@ NM_016203.3(PRKAG2):c.207G>A (p.Pro69=) http://identifiers.org/clinvar/45710 ^@ NM_016203.3(PRKAG2):c.240C>A (p.Gly80=) http://identifiers.org/clinvar/45711 ^@ NM_016203.3(PRKAG2):c.247C>T (p.Pro83Ser) http://identifiers.org/clinvar/45712 ^@ NM_016203.3(PRKAG2):c.251G>A (p.Arg84Gln) http://identifiers.org/clinvar/45713 ^@ NM_016203.3(PRKAG2):c.312C>T (p.Thr104=) http://identifiers.org/clinvar/45714 ^@ NM_016203.3(PRKAG2):c.313G>A (p.Val105Met) http://identifiers.org/clinvar/45715 ^@ NM_016203.3(PRKAG2):c.325T>G (p.Ser109Ala) http://identifiers.org/clinvar/45716 ^@ NM_016203.3(PRKAG2):c.356G>A (p.Arg119Gln) http://identifiers.org/clinvar/45717 ^@ NM_016203.3(PRKAG2):c.425C>T (p.Thr142Ile) http://identifiers.org/clinvar/45718 ^@ NM_016203.3(PRKAG2):c.428C>T (p.Ser143Leu) http://identifiers.org/clinvar/45719 ^@ NM_016203.3(PRKAG2):c.42T>A (p.Val14=) http://identifiers.org/clinvar/45720 ^@ NM_016203.3(PRKAG2):c.466+7C>A http://identifiers.org/clinvar/45721 ^@ NM_016203.3(PRKAG2):c.471C>T (p.Ser157=) http://identifiers.org/clinvar/45722 ^@ NM_016203.3(PRKAG2):c.531G>T (p.Leu177=) http://identifiers.org/clinvar/45723 ^@ NM_016203.3(PRKAG2):c.532G>A (p.Glu178Lys) http://identifiers.org/clinvar/45724 ^@ NM_016203.3(PRKAG2):c.554A>T (p.Glu185Val) http://identifiers.org/clinvar/45725 ^@ NM_016203.3(PRKAG2):c.593dupC (p.Asp199Glyfs) http://identifiers.org/clinvar/45726 ^@ NM_016203.3(PRKAG2):c.594G>A (p.Pro198=) http://identifiers.org/clinvar/45727 ^@ NM_016203.3(PRKAG2):c.59G>T (p.Ser20Ile) http://identifiers.org/clinvar/45728 ^@ NM_016203.3(PRKAG2):c.618G>T (p.Pro206=) http://identifiers.org/clinvar/45729 ^@ NM_016203.3(PRKAG2):c.620C>G (p.Ser207Cys) http://identifiers.org/clinvar/45730 ^@ NM_016203.3(PRKAG2):c.639C>T (p.Thr213=) http://identifiers.org/clinvar/45731 ^@ NM_016203.3(PRKAG2):c.685-7C>A http://identifiers.org/clinvar/45732 ^@ NM_016203.3(PRKAG2):c.685-8C>T http://identifiers.org/clinvar/45733 ^@ NM_016203.3(PRKAG2):c.698C>G (p.Ala233Gly) http://identifiers.org/clinvar/45734 ^@ NM_016203.3(PRKAG2):c.722G>A (p.Gly241Asp) http://identifiers.org/clinvar/45735 ^@ NM_016203.3(PRKAG2):c.739G>C (p.Glu247Gln) http://identifiers.org/clinvar/45736 ^@ NM_016203.3(PRKAG2):c.865G>A (p.Val289Ile) http://identifiers.org/clinvar/45737 ^@ NM_016203.3(PRKAG2):c.897C>T (p.Asn299=) http://identifiers.org/clinvar/45738 ^@ NM_016203.3(PRKAG2):c.912G>A (p.Ala304=) http://identifiers.org/clinvar/45739 ^@ NM_016203.3(PRKAG2):c.967T>A (p.Phe323Ile) http://identifiers.org/clinvar/45740 ^@ NM_016203.3(PRKAG2):c.993T>C (p.Tyr331=) http://identifiers.org/clinvar/45741 ^@ NM_016239.3(MYO15A):c.10077G>A (p.Pro3359=) http://identifiers.org/clinvar/45742 ^@ NM_016239.3(MYO15A):c.10182G>A (p.Ala3394=) http://identifiers.org/clinvar/45743 ^@ NM_016239.3(MYO15A):c.10393C>T (p.Arg3465Trp) http://identifiers.org/clinvar/45744 ^@ NM_016239.3(MYO15A):c.10431T>C (p.Tyr3477=) http://identifiers.org/clinvar/45745 ^@ NM_016239.3(MYO15A):c.3979C>T (p.Leu1327=) http://identifiers.org/clinvar/45746 ^@ NM_016239.3(MYO15A):c.4206+13C>G http://identifiers.org/clinvar/45747 ^@ NM_016239.3(MYO15A):c.4779+9G>A http://identifiers.org/clinvar/45748 ^@ NM_016239.3(MYO15A):c.5212-14C>T http://identifiers.org/clinvar/45749 ^@ NM_016239.3(MYO15A):c.5360+13G>T http://identifiers.org/clinvar/45750 ^@ NM_016239.3(MYO15A):c.5649+14G>A http://identifiers.org/clinvar/45751 ^@ NM_016239.3(MYO15A):c.5826-12A>C http://identifiers.org/clinvar/45752 ^@ NM_016239.3(MYO15A):c.5880C>T (p.His1960=) http://identifiers.org/clinvar/45753 ^@ NM_016239.3(MYO15A):c.5929T>C (p.Cys1977Arg) http://identifiers.org/clinvar/45754 ^@ NM_016239.3(MYO15A):c.6052G>A (p.Gly2018Arg) http://identifiers.org/clinvar/45755 ^@ NM_016239.3(MYO15A):c.6743C>T (p.Ala2248Val) http://identifiers.org/clinvar/45756 ^@ NM_016239.3(MYO15A):c.6788G>A (p.Gly2263Asp) http://identifiers.org/clinvar/45757 ^@ NM_016239.3(MYO15A):c.7006dupC (p.Gln2336Profs) http://identifiers.org/clinvar/45758 ^@ NM_016239.3(MYO15A):c.7185T>C (p.Phe2395=) http://identifiers.org/clinvar/45759 ^@ NM_016239.3(MYO15A):c.7468G>A (p.Ala2490Thr) http://identifiers.org/clinvar/45760 ^@ NM_016239.3(MYO15A):c.7503G>A (p.Thr2501=) http://identifiers.org/clinvar/45761 ^@ NM_016239.3(MYO15A):c.7857G>A (p.Gly2619=) http://identifiers.org/clinvar/45762 ^@ NM_016239.3(MYO15A):c.7908C>T (p.Ala2636=) http://identifiers.org/clinvar/45763 ^@ NM_016239.3(MYO15A):c.7961C>G (p.Thr2654Ser) http://identifiers.org/clinvar/45764 ^@ NM_016239.3(MYO15A):c.8090T>C (p.Val2697Ala) http://identifiers.org/clinvar/45765 ^@ NM_016239.3(MYO15A):c.8100delC (p.Lys2701Argfs) http://identifiers.org/clinvar/45766 ^@ NM_016239.3(MYO15A):c.8262G>A (p.Thr2754=) http://identifiers.org/clinvar/45767 ^@ NM_016239.3(MYO15A):c.8322C>T (p.Ser2774=) http://identifiers.org/clinvar/45768 ^@ NM_016239.3(MYO15A):c.8339C>T (p.Thr2780Met) http://identifiers.org/clinvar/45769 ^@ NM_016239.3(MYO15A):c.8460-15C>T http://identifiers.org/clinvar/45770 ^@ NM_016239.3(MYO15A):c.8652G>A (p.Ala2884=) http://identifiers.org/clinvar/45771 ^@ NM_016239.3(MYO15A):c.8767C>T (p.Arg2923Ter) http://identifiers.org/clinvar/45772 ^@ NM_016239.3(MYO15A):c.9329G>A (p.Arg3110Gln) http://identifiers.org/clinvar/45773 ^@ NM_016239.3(MYO15A):c.9478C>T (p.Leu3160Phe) http://identifiers.org/clinvar/45774 ^@ NM_016239.3(MYO15A):c.9486C>T (p.Asp3162=) http://identifiers.org/clinvar/45775 ^@ NM_016239.3(MYO15A):c.9518-11T>C http://identifiers.org/clinvar/45776 ^@ NM_016239.3(MYO15A):c.9691-3C>A http://identifiers.org/clinvar/45777 ^@ NM_016239.3(MYO15A):c.9861C>T (p.Gly3287=) http://identifiers.org/clinvar/45778 ^@ NM_016599.4(MYOZ2):c.-3dupA http://identifiers.org/clinvar/45779 ^@ NM_016599.4(MYOZ2):c.17C>G (p.Thr6Ser) http://identifiers.org/clinvar/45780 ^@ NM_016599.4(MYOZ2):c.29A>C (p.Gln10Pro) http://identifiers.org/clinvar/45781 ^@ NM_016599.4(MYOZ2):c.29A>G (p.Gln10Arg) http://identifiers.org/clinvar/45782 ^@ NM_016599.4(MYOZ2):c.360A>G (p.Pro120=) http://identifiers.org/clinvar/45783 ^@ NM_016599.4(MYOZ2):c.447A>T (p.Gln149His) http://identifiers.org/clinvar/45784 ^@ NM_016599.4(MYOZ2):c.488T>C (p.Leu163Ser) http://identifiers.org/clinvar/45785 ^@ NM_016599.4(MYOZ2):c.560+9A>G http://identifiers.org/clinvar/45786 ^@ NM_016599.4(MYOZ2):c.561-13dupT http://identifiers.org/clinvar/45787 ^@ NM_016599.4(MYOZ2):c.750C>T (p.Thr250=) http://identifiers.org/clinvar/45788 ^@ NM_016599.4(MYOZ2):c.76+10A>G http://identifiers.org/clinvar/45789 ^@ NM_016599.4(MYOZ2):c.77-14A>G http://identifiers.org/clinvar/45790 ^@ NM_016599.4(MYOZ2):c.84T>C (p.Asp28=) http://identifiers.org/clinvar/45791 ^@ NM_017433.4(MYO3A):c.-15T>A http://identifiers.org/clinvar/45792 ^@ NM_017433.4(MYO3A):c.1042A>G (p.Ile348Val) http://identifiers.org/clinvar/45793 ^@ NM_017433.4(MYO3A):c.1053+11C>T http://identifiers.org/clinvar/45794 ^@ NM_017433.4(MYO3A):c.1053+12A>G http://identifiers.org/clinvar/45795 ^@ NM_017433.4(MYO3A):c.1080G>A (p.Lys360=) http://identifiers.org/clinvar/45796 ^@ NM_017433.4(MYO3A):c.1104C>T (p.Tyr368=) http://identifiers.org/clinvar/45797 ^@ NM_017433.4(MYO3A):c.1105G>A (p.Val369Ile) http://identifiers.org/clinvar/45798 ^@ NM_017433.4(MYO3A):c.1170+7C>T http://identifiers.org/clinvar/45799 ^@ NM_017433.4(MYO3A):c.1559C>T (p.Ala520Val) http://identifiers.org/clinvar/45800 ^@ NM_017433.4(MYO3A):c.170A>C (p.Asp57Ala) http://identifiers.org/clinvar/45801 ^@ NM_017433.4(MYO3A):c.1743G>A (p.Glu581=) http://identifiers.org/clinvar/45802 ^@ NM_017433.4(MYO3A):c.2169T>C (p.Asn723=) http://identifiers.org/clinvar/45803 ^@ NM_017433.4(MYO3A):c.2497G>T (p.Ala833Ser) http://identifiers.org/clinvar/45804 ^@ NM_017433.4(MYO3A):c.2867G>A (p.Ser956Asn) http://identifiers.org/clinvar/45805 ^@ NM_017433.4(MYO3A):c.3000-11T>C http://identifiers.org/clinvar/45806 ^@ NM_017433.4(MYO3A):c.3094G>A (p.Ala1032Thr) http://identifiers.org/clinvar/45807 ^@ NM_017433.4(MYO3A):c.3112-4T>C http://identifiers.org/clinvar/45808 ^@ NM_017433.4(MYO3A):c.3597G>A (p.Glu1199=) http://identifiers.org/clinvar/45809 ^@ NM_017433.4(MYO3A):c.3850A>T (p.Thr1284Ser) http://identifiers.org/clinvar/45810 ^@ NM_017433.4(MYO3A):c.3859C>A (p.Pro1287Thr) http://identifiers.org/clinvar/45811 ^@ NM_017433.4(MYO3A):c.3937C>A (p.Arg1313Ser) http://identifiers.org/clinvar/45812 ^@ NM_017433.4(MYO3A):c.4045G>C (p.Ala1349Pro) http://identifiers.org/clinvar/45813 ^@ NM_017433.4(MYO3A):c.4250C>T (p.Thr1417Ile) http://identifiers.org/clinvar/45814 ^@ NM_017433.4(MYO3A):c.4350T>C (p.Ile1450=) http://identifiers.org/clinvar/45815 ^@ NM_017433.4(MYO3A):c.4462A>G (p.Lys1488Glu) http://identifiers.org/clinvar/45816 ^@ NM_017433.4(MYO3A):c.4465A>G (p.Ile1489Val) http://identifiers.org/clinvar/45817 ^@ NM_017433.4(MYO3A):c.480G>T (p.Thr160=) http://identifiers.org/clinvar/45818 ^@ NM_017433.4(MYO3A):c.4848C>G (p.Ser1616=) http://identifiers.org/clinvar/45819 ^@ NM_017433.4(MYO3A):c.533C>T (p.Thr178Ile) http://identifiers.org/clinvar/45820 ^@ NM_017433.4(MYO3A):c.624C>T (p.Asp208=) http://identifiers.org/clinvar/45821 ^@ NM_017433.4(MYO3A):c.656C>T (p.Thr219Met) http://identifiers.org/clinvar/45822 ^@ NM_017433.4(MYO3A):c.660C>T (p.Ala220=) http://identifiers.org/clinvar/45823 ^@ NM_017433.4(MYO3A):c.956G>A (p.Arg319His) http://identifiers.org/clinvar/45824 ^@ NM_017849.3(TMEM127):c.621G>A (p.Ala207=) http://identifiers.org/clinvar/45825 ^@ NM_021167.4(GATAD1):c.160G>A (p.Gly54Ser) http://identifiers.org/clinvar/45826 ^@ NM_021167.4(GATAD1):c.276T>G (p.Ser92=) http://identifiers.org/clinvar/45827 ^@ NM_021167.4(GATAD1):c.492G>A (p.Lys164=) http://identifiers.org/clinvar/45828 ^@ NM_021167.4(GATAD1):c.558G>A (p.Thr186=) http://identifiers.org/clinvar/45829 ^@ NM_021167.4(GATAD1):c.697C>T (p.Arg233Trp) http://identifiers.org/clinvar/45830 ^@ NM_002230.2(JUP):c.1159-13C>A http://identifiers.org/clinvar/45831 ^@ NM_021991.2(JUP):c.1159-13C>T http://identifiers.org/clinvar/45832 ^@ NM_002230.2(JUP):c.1224C>T (p.Leu408=) http://identifiers.org/clinvar/45833 ^@ NM_002230.2(JUP):c.1331G>A (p.Arg444His) http://identifiers.org/clinvar/45834 ^@ NM_002230.2(JUP):c.1377G>T (p.Leu459=) http://identifiers.org/clinvar/45835 ^@ NM_002230.2(JUP):c.1379G>A (p.Arg460His) http://identifiers.org/clinvar/45836 ^@ NM_021991.2(JUP):c.1497+14G>A http://identifiers.org/clinvar/45837 ^@ NM_002230.2(JUP):c.1563A>G (p.Ala521=) http://identifiers.org/clinvar/45838 ^@ NM_021991.2(JUP):c.1653+10C>A http://identifiers.org/clinvar/45839 ^@ NM_002230.2(JUP):c.1711G>T (p.Ala571Ser) http://identifiers.org/clinvar/45840 ^@ NM_002230.2(JUP):c.1715G>T (p.Arg572Leu) http://identifiers.org/clinvar/45841 ^@ NM_002230.2(JUP):c.1849G>A (p.Ala617Thr) http://identifiers.org/clinvar/45842 ^@ NM_002230.2(JUP):c.1942G>A (p.Val648Ile) http://identifiers.org/clinvar/45843 ^@ NM_002230.2(JUP):c.2047-14C>G http://identifiers.org/clinvar/45844 ^@ NM_002230.2(JUP):c.2059A>G (p.Ile687Val) http://identifiers.org/clinvar/45845 ^@ NM_002230.2(JUP):c.213T>C (p.Asp71=) http://identifiers.org/clinvar/45846 ^@ NM_002230.2(JUP):c.2178C>T (p.Ile726=) http://identifiers.org/clinvar/45847 ^@ NM_002230.2(JUP):c.2207C>T (p.Pro736Leu) http://identifiers.org/clinvar/45848 ^@ NM_002230.2(JUP):c.297G>A (p.Ser99=) http://identifiers.org/clinvar/45849 ^@ NM_002230.2(JUP):c.351C>T (p.Ala117=) http://identifiers.org/clinvar/45850 ^@ NM_002230.2(JUP):c.405C>T (p.Asp135=) http://identifiers.org/clinvar/45851 ^@ NM_002230.2(JUP):c.425G>A (p.Arg142His) http://identifiers.org/clinvar/45852 ^@ NM_002230.2(JUP):c.486G>A (p.Ala162=) http://identifiers.org/clinvar/45853 ^@ NM_002230.2(JUP):c.545C>T (p.Ser182Leu) http://identifiers.org/clinvar/45854 ^@ NM_002230.2(JUP):c.567C>T (p.Val189=) http://identifiers.org/clinvar/45855 ^@ NM_021991.2(JUP):c.708-4C>G http://identifiers.org/clinvar/45856 ^@ NM_021991.2(JUP):c.708-7C>T http://identifiers.org/clinvar/45857 ^@ NM_002230.2(JUP):c.777C>T (p.Gly259=) http://identifiers.org/clinvar/45858 ^@ NM_002230.2(JUP):c.891C>T (p.Tyr297=) http://identifiers.org/clinvar/45859 ^@ NM_022124.5(CDH23):c.1061G>A (p.Ser354Asn) http://identifiers.org/clinvar/45860 ^@ NM_022124.5(CDH23):c.1068C>T (p.Ala356=) http://identifiers.org/clinvar/45861 ^@ NM_022124.5(CDH23):c.1078C>T (p.Leu360=) http://identifiers.org/clinvar/45862 ^@ NM_022124.5(CDH23):c.1135-7T>C http://identifiers.org/clinvar/45863 ^@ NM_022124.5(CDH23):c.1185C>T (p.Ser395=) http://identifiers.org/clinvar/45864 ^@ NM_022124.5(CDH23):c.1206G>A (p.Pro402=) http://identifiers.org/clinvar/45865 ^@ NM_022124.5(CDH23):c.1246_1266del21 (p.Ala416_Glu422del) http://identifiers.org/clinvar/45866 ^@ NM_022124.5(CDH23):c.1307G>A (p.Ser436Asn) http://identifiers.org/clinvar/45867 ^@ NM_022124.5(CDH23):c.1423G>A (p.Val475Met) http://identifiers.org/clinvar/45868 ^@ NM_022124.5(CDH23):c.1428G>T (p.Gly476=) http://identifiers.org/clinvar/45869 ^@ NM_022124.5(CDH23):c.1446C>A (p.Val482=) http://identifiers.org/clinvar/45870 ^@ NM_052836.3(CDH23):c.1579T>C (p.Leu527=) http://identifiers.org/clinvar/45871 ^@ NM_052836.3(CDH23):c.1525C>A (p.Pro509Thr) http://identifiers.org/clinvar/45872 ^@ NM_022124.5(CDH23):c.1469G>C (p.Gly490Ala) http://identifiers.org/clinvar/45873 ^@ NM_022124.5(CDH23):c.1472C>T (p.Thr491Ile) http://identifiers.org/clinvar/45874 ^@ NM_022124.5(CDH23):c.1478G>A (p.Gly493Glu) http://identifiers.org/clinvar/45875 ^@ NM_022124.5(CDH23):c.1487G>A (p.Ser496Asn) http://identifiers.org/clinvar/45876 ^@ NM_022124.5(CDH23):c.1520C>T (p.Ser507Leu) http://identifiers.org/clinvar/45877 ^@ NM_022124.5(CDH23):c.1584C>T (p.Arg528=) http://identifiers.org/clinvar/45878 ^@ NM_022124.5(CDH23):c.1620C>T (p.Gly540=) http://identifiers.org/clinvar/45879 ^@ NM_022124.5(CDH23):c.1637G>A (p.Arg546Gln) http://identifiers.org/clinvar/45880 ^@ NM_022124.5(CDH23):c.1665C>T (p.Asn555=) http://identifiers.org/clinvar/45881 ^@ NM_022124.5(CDH23):c.1685A>G (p.Gln562Arg) http://identifiers.org/clinvar/45882 ^@ NM_022124.5(CDH23):c.173A>G (p.Gln58Arg) http://identifiers.org/clinvar/45883 ^@ NM_022124.5(CDH23):c.1814C>T (p.Ala605Val) http://identifiers.org/clinvar/45884 ^@ NM_022124.5(CDH23):c.1866C>T (p.Ser622=) http://identifiers.org/clinvar/45885 ^@ NM_022124.5(CDH23):c.198G>A (p.Val66=) http://identifiers.org/clinvar/45886 ^@ NM_022124.5(CDH23):c.2012delT (p.Phe671Serfs) http://identifiers.org/clinvar/45887 ^@ NM_022124.5(CDH23):c.204C>T (p.Gly68=) http://identifiers.org/clinvar/45888 ^@ NM_022124.5(CDH23):c.2149A>G (p.Thr717Ala) http://identifiers.org/clinvar/45889 ^@ NM_022124.5(CDH23):c.2193G>C (p.Thr731=) http://identifiers.org/clinvar/45890 ^@ NM_022124.5(CDH23):c.2239C>T (p.Arg747Cys) http://identifiers.org/clinvar/45891 ^@ NM_022124.5(CDH23):c.2263C>T (p.His755Tyr) http://identifiers.org/clinvar/45892 ^@ NM_022124.5(CDH23):c.2290-13delT http://identifiers.org/clinvar/45893 ^@ NM_022124.5(CDH23):c.2316T>C (p.Asn772=) http://identifiers.org/clinvar/45894 ^@ NM_022124.5(CDH23):c.2330C>A (p.Thr777Lys) http://identifiers.org/clinvar/45895 ^@ NM_022124.5(CDH23):c.2337G>A (p.Lys779=) http://identifiers.org/clinvar/45896 ^@ NM_022124.5(CDH23):c.2388T>C (p.Asp796=) http://identifiers.org/clinvar/45897 ^@ NM_022124.5(CDH23):c.2424G>A (p.Gly808=) http://identifiers.org/clinvar/45898 ^@ NM_022124.5(CDH23):c.2572G>A (p.Val858Ile) http://identifiers.org/clinvar/45899 ^@ NM_022124.5(CDH23):c.269G>A (p.Arg90Gln) http://identifiers.org/clinvar/45900 ^@ NM_022124.5(CDH23):c.2781C>T (p.Tyr927=) http://identifiers.org/clinvar/45901 ^@ NM_022124.5(CDH23):c.2790G>A (p.Pro930=) http://identifiers.org/clinvar/45902 ^@ NM_022124.5(CDH23):c.2830A>G (p.Ser944Gly) http://identifiers.org/clinvar/45903 ^@ NM_022124.5(CDH23):c.2840T>A (p.Val947Glu) http://identifiers.org/clinvar/45904 ^@ NM_022124.5(CDH23):c.2878G>A (p.Glu960Lys) http://identifiers.org/clinvar/45905 ^@ NM_022124.5(CDH23):c.2891G>A (p.Arg964Gln) http://identifiers.org/clinvar/45906 ^@ NM_022124.5(CDH23):c.2958G>A (p.Leu986=) http://identifiers.org/clinvar/45907 ^@ NM_022124.5(CDH23):c.3070G>A (p.Val1024Met) http://identifiers.org/clinvar/45908 ^@ NM_022124.5(CDH23):c.3074G>A (p.Gly1025Asp) http://identifiers.org/clinvar/45909 ^@ NM_022124.5(CDH23):c.3092G>C (p.Ser1031Thr) http://identifiers.org/clinvar/45910 ^@ NM_022124.5(CDH23):c.3133G>T (p.Val1045Leu) http://identifiers.org/clinvar/45911 ^@ NM_022124.5(CDH23):c.3249G>A (p.Thr1083=) http://identifiers.org/clinvar/45912 ^@ NM_022124.5(CDH23):c.3262G>A (p.Val1088Met) http://identifiers.org/clinvar/45913 ^@ NM_022124.5(CDH23):c.3293A>G (p.Asn1098Ser) http://identifiers.org/clinvar/45914 ^@ NM_022124.5(CDH23):c.3331G>A (p.Val1111Ile) http://identifiers.org/clinvar/45915 ^@ NM_022124.5(CDH23):c.3337G>C (p.Glu1113Gln) http://identifiers.org/clinvar/45916 ^@ NM_022124.5(CDH23):c.3361A>T (p.Ile1121Phe) http://identifiers.org/clinvar/45917 ^@ NM_022124.5(CDH23):c.3364T>G (p.Leu1122Val) http://identifiers.org/clinvar/45918 ^@ NM_022124.5(CDH23):c.3397G>A (p.Glu1133Lys) http://identifiers.org/clinvar/45919 ^@ NM_022124.5(CDH23):c.3480G>T (p.Met1160Ile) http://identifiers.org/clinvar/45920 ^@ NM_022124.5(CDH23):c.3481C>T (p.Arg1161Ter) http://identifiers.org/clinvar/45921 ^@ NM_022124.5(CDH23):c.3486G>T (p.Gly1162=) http://identifiers.org/clinvar/45922 ^@ NM_022124.5(CDH23):c.3550G>A (p.Asp1184Asn) http://identifiers.org/clinvar/45923 ^@ NM_022124.5(CDH23):c.3574G>A (p.Val1192Ile) http://identifiers.org/clinvar/45924 ^@ NM_022124.5(CDH23):c.3580-12C>T http://identifiers.org/clinvar/45925 ^@ NM_022124.5(CDH23):c.3619G>A (p.Val1207Met) http://identifiers.org/clinvar/45926 ^@ NM_022124.5(CDH23):c.3628C>T (p.Gln1210Ter) http://identifiers.org/clinvar/45927 ^@ NM_022124.5(CDH23):c.3664G>A (p.Ala1222Thr) http://identifiers.org/clinvar/45928 ^@ NM_022124.5(CDH23):c.366T>C (p.Val122=) http://identifiers.org/clinvar/45929 ^@ NM_022124.5(CDH23):c.3706C>T (p.Arg1236Ter) http://identifiers.org/clinvar/45930 ^@ NM_022124.5(CDH23):c.3801C>T (p.Thr1267=) http://identifiers.org/clinvar/45931 ^@ NM_022124.5(CDH23):c.3845A>G (p.Asn1282Ser) http://identifiers.org/clinvar/45932 ^@ NM_022124.5(CDH23):c.3895G>A (p.Val1299Ile) http://identifiers.org/clinvar/45933 ^@ NM_022124.5(CDH23):c.3925G>A (p.Glu1309Lys) http://identifiers.org/clinvar/45934 ^@ NM_022124.5(CDH23):c.3986G>A (p.Gly1329Asp) http://identifiers.org/clinvar/45935 ^@ NM_022124.5(CDH23):c.3999G>A (p.Val1333=) http://identifiers.org/clinvar/45936 ^@ NM_022124.5(CDH23):c.4045C>T (p.Arg1349Cys) http://identifiers.org/clinvar/45937 ^@ NM_022124.5(CDH23):c.4051A>G (p.Asn1351Asp) http://identifiers.org/clinvar/45938 ^@ NM_022124.5(CDH23):c.4068C>G (p.Thr1356=) http://identifiers.org/clinvar/45939 ^@ NM_022124.5(CDH23):c.4210-7C>T http://identifiers.org/clinvar/45940 ^@ NM_022124.5(CDH23):c.429+13G>A http://identifiers.org/clinvar/45941 ^@ NM_022124.5(CDH23):c.429+4G>A http://identifiers.org/clinvar/45942 ^@ NM_022124.5(CDH23):c.4299T>A (p.Pro1433=) http://identifiers.org/clinvar/45943 ^@ NM_022124.5(CDH23):c.4309C>T (p.Arg1437Ter) http://identifiers.org/clinvar/45944 ^@ NM_022124.5(CDH23):c.4310G>A (p.Arg1437Gln) http://identifiers.org/clinvar/45945 ^@ NM_022124.5(CDH23):c.4341T>C (p.Asp1447=) http://identifiers.org/clinvar/45946 ^@ NM_022124.5(CDH23):c.4359+11G>T http://identifiers.org/clinvar/45947 ^@ NM_022124.5(CDH23):c.4391C>T (p.Ala1464Val) http://identifiers.org/clinvar/45948 ^@ NM_022124.5(CDH23):c.4498T>A (p.Ser1500Thr) http://identifiers.org/clinvar/45949 ^@ NM_022124.5(CDH23):c.4509C>T (p.Gly1503=) http://identifiers.org/clinvar/45950 ^@ NM_022124.5(CDH23):c.4555G>C (p.Asp1519His) http://identifiers.org/clinvar/45951 ^@ NM_022124.5(CDH23):c.460G>A (p.Val154Met) http://identifiers.org/clinvar/45952 ^@ NM_022124.5(CDH23):c.4617+8C>A http://identifiers.org/clinvar/45953 ^@ NM_022124.5(CDH23):c.4620C>T (p.Asn1540=) http://identifiers.org/clinvar/45954 ^@ NM_022124.5(CDH23):c.46delG (p.Val16Cysfs) http://identifiers.org/clinvar/45955 ^@ NM_022124.5(CDH23):c.4723G>A (p.Ala1575Thr) http://identifiers.org/clinvar/45956 ^@ NM_022124.5(CDH23):c.4842G>C (p.Leu1614=) http://identifiers.org/clinvar/45957 ^@ NM_022124.5(CDH23):c.4858G>A (p.Val1620Met) http://identifiers.org/clinvar/45958 ^@ NM_022124.5(CDH23):c.4953C>T (p.Asn1651=) http://identifiers.org/clinvar/45959 ^@ NM_022124.5(CDH23):c.5009T>A (p.Val1670Asp) http://identifiers.org/clinvar/45960 ^@ NM_022124.5(CDH23):c.5023G>A (p.Val1675Ile) http://identifiers.org/clinvar/45961 ^@ NM_022124.5(CDH23):c.5026G>A (p.Ala1676Thr) http://identifiers.org/clinvar/45962 ^@ NM_022124.5(CDH23):c.5050C>T (p.Arg1684Cys) http://identifiers.org/clinvar/45963 ^@ NM_022124.5(CDH23):c.5051G>C (p.Arg1684Pro) http://identifiers.org/clinvar/45964 ^@ NM_022124.5(CDH23):c.5066T>C (p.Met1689Thr) http://identifiers.org/clinvar/45965 ^@ NM_022124.5(CDH23):c.5100C>T (p.Tyr1700=) http://identifiers.org/clinvar/45966 ^@ NM_022124.5(CDH23):c.510C>T (p.Ser170=) http://identifiers.org/clinvar/45967 ^@ NM_022124.5(CDH23):c.5130C>A (p.Ile1710=) http://identifiers.org/clinvar/45968 ^@ NM_022124.5(CDH23):c.5130C>T (p.Ile1710=) http://identifiers.org/clinvar/45969 ^@ NM_022124.5(CDH23):c.5200G>A (p.Val1734Met) http://identifiers.org/clinvar/45970 ^@ NM_022124.5(CDH23):c.5219A>T (p.Asn1740Ile) http://identifiers.org/clinvar/45971 ^@ NM_022124.5(CDH23):c.5248G>A (p.Gly1750Arg) http://identifiers.org/clinvar/45972 ^@ NM_022124.5(CDH23):c.5272C>T (p.Gln1758Ter) http://identifiers.org/clinvar/45973 ^@ NM_022124.5(CDH23):c.5297T>C (p.Phe1766Ser) http://identifiers.org/clinvar/45974 ^@ NM_022124.5(CDH23):c.5312G>A (p.Arg1771Gln) http://identifiers.org/clinvar/45975 ^@ NM_022124.5(CDH23):c.5353G>A (p.Asp1785Asn) http://identifiers.org/clinvar/45976 ^@ NM_022124.5(CDH23):c.5418C>G (p.Asp1806Glu) http://identifiers.org/clinvar/45977 ^@ NM_022124.5(CDH23):c.5410C>T (p.Arg1804Trp) http://identifiers.org/clinvar/45978 ^@ NM_022124.5(CDH23):c.5411G>A (p.Arg1804Gln) http://identifiers.org/clinvar/45979 ^@ NM_022124.5(CDH23):c.5419G>A (p.Val1807Met) http://identifiers.org/clinvar/45980 ^@ NM_022124.5(CDH23):c.5471G>A (p.Arg1824His) http://identifiers.org/clinvar/45981 ^@ NM_022124.5(CDH23):c.5499C>T (p.Ser1833=) http://identifiers.org/clinvar/45982 ^@ NM_022124.5(CDH23):c.5503-10A>G http://identifiers.org/clinvar/45983 ^@ NM_022124.5(CDH23):c.5505G>A (p.Met1835Ile) http://identifiers.org/clinvar/45984 ^@ NM_022124.5(CDH23):c.5523G>A (p.Val1841=) http://identifiers.org/clinvar/45985 ^@ NM_022124.5(CDH23):c.5541C>T (p.Asn1847=) http://identifiers.org/clinvar/45986 ^@ NM_022124.5(CDH23):c.5544C>T (p.Asp1848=) http://identifiers.org/clinvar/45987 ^@ NM_022124.5(CDH23):c.5660C>T (p.Thr1887Ile) http://identifiers.org/clinvar/45988 ^@ NM_022124.5(CDH23):c.5712+1G>A http://identifiers.org/clinvar/45989 ^@ NM_022124.5(CDH23):c.5712G>A (p.Thr1904=) http://identifiers.org/clinvar/45990 ^@ NM_022124.5(CDH23):c.5713-9A>G http://identifiers.org/clinvar/45991 ^@ NM_022124.5(CDH23):c.5734C>T (p.Arg1912Trp) http://identifiers.org/clinvar/45992 ^@ NM_022124.5(CDH23):c.5753G>A (p.Arg1918Gln) http://identifiers.org/clinvar/45993 ^@ NM_022124.5(CDH23):c.5831T>C (p.Leu1944Ser) http://identifiers.org/clinvar/45994 ^@ NM_022124.5(CDH23):c.5869_5874delCCCCTC (p.Pro1957_Leu1958del) http://identifiers.org/clinvar/45995 ^@ NM_022124.5(CDH23):c.5923+1G>A http://identifiers.org/clinvar/45996 ^@ NM_022124.5(CDH23):c.5937G>A (p.Thr1979=) http://identifiers.org/clinvar/45997 ^@ NM_022124.5(CDH23):c.5996C>G (p.Thr1999Ser) http://identifiers.org/clinvar/45998 ^@ NM_022124.5(CDH23):c.6026T>A (p.Leu2009His) http://identifiers.org/clinvar/45999 ^@ NM_022124.5(CDH23):c.6049+1G>A http://identifiers.org/clinvar/46000 ^@ NM_022124.5(CDH23):c.6049G>A (p.Gly2017Ser) http://identifiers.org/clinvar/46001 ^@ NM_022124.5(CDH23):c.6050-9G>A http://identifiers.org/clinvar/46002 ^@ NM_022124.5(CDH23):c.6130G>A (p.Glu2044Lys) http://identifiers.org/clinvar/46003 ^@ NM_022124.5(CDH23):c.6168C>T (p.Leu2056=) http://identifiers.org/clinvar/46004 ^@ NM_022124.5(CDH23):c.618C>T (p.Asn206=) http://identifiers.org/clinvar/46005 ^@ NM_022124.5(CDH23):c.6196C>T (p.Arg2066Trp) http://identifiers.org/clinvar/46006 ^@ NM_022124.5(CDH23):c.6197G>A (p.Arg2066Gln) http://identifiers.org/clinvar/46007 ^@ NM_022124.5(CDH23):c.6249G>A (p.Pro2083=) http://identifiers.org/clinvar/46008 ^@ NM_022124.5(CDH23):c.6329C>T (p.Ala2110Val) http://identifiers.org/clinvar/46009 ^@ NM_022124.5(CDH23):c.6412delG (p.Glu2138Serfs) http://identifiers.org/clinvar/46010 ^@ NM_022124.5(CDH23):c.6426A>G (p.Leu2142=) http://identifiers.org/clinvar/46011 ^@ NM_022124.5(CDH23):c.6489G>C (p.Leu2163=) http://identifiers.org/clinvar/46012 ^@ NM_022124.5(CDH23):c.6492C>T (p.Ile2164=) http://identifiers.org/clinvar/46013 ^@ NM_022124.5(CDH23):c.6596T>A (p.Ile2199Asn) http://identifiers.org/clinvar/46014 ^@ NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu) http://identifiers.org/clinvar/46015 ^@ NM_022124.5(CDH23):c.6648C>T (p.Ala2216=) http://identifiers.org/clinvar/46016 ^@ NM_022124.5(CDH23):c.6687C>T (p.Asp2229=) http://identifiers.org/clinvar/46017 ^@ NM_022124.5(CDH23):c.67+12C>T http://identifiers.org/clinvar/46018 ^@ NM_022124.5(CDH23):c.6705C>T (p.Ile2235=) http://identifiers.org/clinvar/46019 ^@ NM_022124.5(CDH23):c.6847G>A (p.Val2283Ile) http://identifiers.org/clinvar/46020 ^@ NM_022124.5(CDH23):c.6852G>C (p.Leu2284=) http://identifiers.org/clinvar/46021 ^@ NM_022124.5(CDH23):c.6911G>A (p.Arg2304Gln) http://identifiers.org/clinvar/46022 ^@ NM_022124.5(CDH23):c.6918G>A (p.Leu2306=) http://identifiers.org/clinvar/46023 ^@ NM_022124.5(CDH23):c.6968delC (p.Pro2323Leufs) http://identifiers.org/clinvar/46024 ^@ NM_022124.5(CDH23):c.6990G>T (p.Leu2330=) http://identifiers.org/clinvar/46025 ^@ NM_022124.5(CDH23):c.7055-16A>G http://identifiers.org/clinvar/46026 ^@ NM_022124.5(CDH23):c.7073G>A (p.Arg2358Gln) http://identifiers.org/clinvar/46027 ^@ NM_022124.5(CDH23):c.7132G>A (p.Gly2378Arg) http://identifiers.org/clinvar/46028 ^@ NM_022124.5(CDH23):c.7139C>T (p.Pro2380Leu) http://identifiers.org/clinvar/46029 ^@ NM_022124.5(CDH23):c.7362G>A (p.Thr2454=) http://identifiers.org/clinvar/46030 ^@ NM_022124.5(CDH23):c.7442C>G (p.Pro2481Arg) http://identifiers.org/clinvar/46031 ^@ NM_022124.5(CDH23):c.7467C>T (p.Arg2489=) http://identifiers.org/clinvar/46032 ^@ NM_022124.5(CDH23):c.7468G>A (p.Glu2490Lys) http://identifiers.org/clinvar/46033 ^@ NM_022124.5(CDH23):c.7501G>A (p.Asp2501Asn) http://identifiers.org/clinvar/46034 ^@ NM_022124.5(CDH23):c.7572G>A (p.Ala2524=) http://identifiers.org/clinvar/46035 ^@ NM_022124.5(CDH23):c.7615G>C (p.Gly2539Arg) http://identifiers.org/clinvar/46036 ^@ NM_022124.5(CDH23):c.7630T>C (p.Leu2544=) http://identifiers.org/clinvar/46037 ^@ NM_022124.5(CDH23):c.7722C>T (p.Tyr2574=) http://identifiers.org/clinvar/46038 ^@ NM_022124.5(CDH23):c.7762G>C (p.Glu2588Gln) http://identifiers.org/clinvar/46039 ^@ NM_022124.5(CDH23):c.7776G>A (p.Trp2592Ter) http://identifiers.org/clinvar/46040 ^@ NM_022124.5(CDH23):c.7823G>A (p.Arg2608His) http://identifiers.org/clinvar/46041 ^@ NM_022124.5(CDH23):c.7921G>C (p.Asp2641His) http://identifiers.org/clinvar/46042 ^@ NM_022124.5(CDH23):c.7C>T (p.Arg3Cys) http://identifiers.org/clinvar/46043 ^@ NM_022124.5(CDH23):c.8022G>A (p.Gln2674=) http://identifiers.org/clinvar/46044 ^@ NM_022124.5(CDH23):c.8065-9C>T http://identifiers.org/clinvar/46045 ^@ NM_022124.5(CDH23):c.8167G>C (p.Val2723Leu) http://identifiers.org/clinvar/46046 ^@ NM_022124.5(CDH23):c.8257G>A (p.Ala2753Thr) http://identifiers.org/clinvar/46047 ^@ NM_022124.5(CDH23):c.8283C>G (p.Asn2761Lys) http://identifiers.org/clinvar/46048 ^@ NM_022124.5(CDH23):c.8407G>A (p.Val2803Ile) http://identifiers.org/clinvar/46049 ^@ NM_022124.5(CDH23):c.8499C>T (p.Arg2833=) http://identifiers.org/clinvar/46050 ^@ NM_022124.5(CDH23):c.8650_8667del18 (p.Ser2884_His2889del) http://identifiers.org/clinvar/46051 ^@ NM_022124.5(CDH23):c.8723-4G>A http://identifiers.org/clinvar/46052 ^@ NM_022124.5(CDH23):c.8726G>A (p.Ser2909Asn) http://identifiers.org/clinvar/46053 ^@ NM_022124.5(CDH23):c.8781C>A (p.Tyr2927Ter) http://identifiers.org/clinvar/46054 ^@ NM_022124.5(CDH23):c.8808C>T (p.Asp2936=) http://identifiers.org/clinvar/46055 ^@ NM_022124.5(CDH23):c.8829G>A (p.Thr2943=) http://identifiers.org/clinvar/46056 ^@ NM_022124.5(CDH23):c.8856G>A (p.Arg2952=) http://identifiers.org/clinvar/46057 ^@ NM_022124.5(CDH23):c.8859C>T (p.Asp2953=) http://identifiers.org/clinvar/46058 ^@ NM_022124.5(CDH23):c.8895C>T (p.Pro2965=) http://identifiers.org/clinvar/46059 ^@ NM_022124.5(CDH23):c.8907C>T (p.Arg2969=) http://identifiers.org/clinvar/46060 ^@ NM_022124.5(CDH23):c.894G>A (p.Leu298=) http://identifiers.org/clinvar/46061 ^@ NM_022124.5(CDH23):c.8980-12C>T http://identifiers.org/clinvar/46062 ^@ NM_022124.5(CDH23):c.8980-14C>A http://identifiers.org/clinvar/46063 ^@ NM_022124.5(CDH23):c.8G>A (p.Arg3His) http://identifiers.org/clinvar/46064 ^@ NM_022124.5(CDH23):c.9002G>A (p.Arg3001Gln) http://identifiers.org/clinvar/46065 ^@ NM_022124.5(CDH23):c.9015G>A (p.Ala3005=) http://identifiers.org/clinvar/46066 ^@ NM_022124.5(CDH23):c.901C>T (p.Arg301Trp) http://identifiers.org/clinvar/46067 ^@ NM_022124.5(CDH23):c.9077+7C>T http://identifiers.org/clinvar/46068 ^@ NM_022124.5(CDH23):c.9077+8G>A http://identifiers.org/clinvar/46069 ^@ NM_022124.5(CDH23):c.9086A>C (p.Gln3029Pro) http://identifiers.org/clinvar/46070 ^@ NM_022124.5(CDH23):c.9177G>A (p.Pro3059=) http://identifiers.org/clinvar/46071 ^@ NM_022124.5(CDH23):c.9319+11G>A http://identifiers.org/clinvar/46072 ^@ NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) http://identifiers.org/clinvar/46073 ^@ NM_022124.5(CDH23):c.9438G>A (p.Ala3146=) http://identifiers.org/clinvar/46074 ^@ NM_022124.5(CDH23):c.9501G>A (p.Thr3167=) http://identifiers.org/clinvar/46075 ^@ NM_022124.5(CDH23):c.9511-12C>T http://identifiers.org/clinvar/46076 ^@ NM_022124.5(CDH23):c.9569C>T (p.Ala3190Val) http://identifiers.org/clinvar/46077 ^@ NM_022124.5(CDH23):c.9629_9632delTCAA (p.Ile3210Argfs) http://identifiers.org/clinvar/46078 ^@ NM_022124.5(CDH23):c.9670C>T (p.Arg3224Trp) http://identifiers.org/clinvar/46079 ^@ NM_022124.5(CDH23):c.9758A>C (p.Asp3253Ala) http://identifiers.org/clinvar/46080 ^@ NM_022124.5(CDH23):c.9873G>A (p.Thr3291=) http://identifiers.org/clinvar/46081 ^@ NM_022124.5(CDH23):c.9903C>T (p.Pro3301=) http://identifiers.org/clinvar/46082 ^@ NM_022124.5(CDH23):c.9978C>T (p.Asn3326=) http://identifiers.org/clinvar/46083 ^@ NM_024009.2(GJB3):c.340G>A (p.Ala114Thr) http://identifiers.org/clinvar/46084 ^@ NM_024009.2(GJB3):c.357C>T (p.Asn119=) http://identifiers.org/clinvar/46085 ^@ NM_024009.2(GJB3):c.579C>T (p.Gly193=) http://identifiers.org/clinvar/46086 ^@ NM_024009.2(GJB3):c.589G>A (p.Val197Ile) http://identifiers.org/clinvar/46087 ^@ NM_024009.2(GJB3):c.798C>T (p.Asn266=) http://identifiers.org/clinvar/46088 ^@ NM_024009.2(GJB3):c.94C>T (p.Arg32Trp) http://identifiers.org/clinvar/46089 ^@ NM_024022.2(TMPRSS3):c.*2G>A http://identifiers.org/clinvar/46090 ^@ NM_024022.2(TMPRSS3):c.-34G>A http://identifiers.org/clinvar/46091 ^@ NM_024022.2(TMPRSS3):c.-51-7G>C http://identifiers.org/clinvar/46092 ^@ NM_024022.2(TMPRSS3):c.1020G>A (p.Thr340=) http://identifiers.org/clinvar/46093 ^@ NM_024022.2(TMPRSS3):c.1025G>A (p.Gly342Glu) http://identifiers.org/clinvar/46094 ^@ NM_024022.2(TMPRSS3):c.1042G>A (p.Asp348Asn) http://identifiers.org/clinvar/46095 ^@ NM_024022.2(TMPRSS3):c.1056C>T (p.Asp352=) http://identifiers.org/clinvar/46096 ^@ NM_024022.2(TMPRSS3):c.1090T>G (p.Leu364Val) http://identifiers.org/clinvar/46097 ^@ NM_024022.2(TMPRSS3):c.1122C>T (p.Asp374=) http://identifiers.org/clinvar/46098 ^@ NM_024022.2(TMPRSS3):c.1128C>T (p.Tyr376=) http://identifiers.org/clinvar/46099 ^@ NM_024022.2(TMPRSS3):c.1183G>C (p.Asp395His) http://identifiers.org/clinvar/46100 ^@ NM_024022.2(TMPRSS3):c.1200C>G (p.Asp400Glu) http://identifiers.org/clinvar/46101 ^@ NM_024022.2(TMPRSS3):c.1275C>T (p.Cys425=) http://identifiers.org/clinvar/46102 ^@ NM_024022.2(TMPRSS3):c.1276G>A (p.Ala426Thr) http://identifiers.org/clinvar/46103 ^@ NM_024022.2(TMPRSS3):c.1309G>A (p.Val437Ile) http://identifiers.org/clinvar/46104 ^@ NM_024022.2(TMPRSS3):c.1343T>C (p.Met448Thr) http://identifiers.org/clinvar/46105 ^@ NM_024022.2(TMPRSS3):c.157G>A (p.Val53Ile) http://identifiers.org/clinvar/46106 ^@ NM_024022.2(TMPRSS3):c.257T>A (p.Ile86Asn) http://identifiers.org/clinvar/46107 ^@ NM_024022.2(TMPRSS3):c.268G>A (p.Ala90Thr) http://identifiers.org/clinvar/46108 ^@ NM_024022.2(TMPRSS3):c.272G>A (p.Arg91Gln) http://identifiers.org/clinvar/46109 ^@ NM_024022.2(TMPRSS3):c.279C>T (p.Asp93=) http://identifiers.org/clinvar/46110 ^@ NM_024022.2(TMPRSS3):c.298G>C (p.Asp100His) http://identifiers.org/clinvar/46111 ^@ NM_024022.2(TMPRSS3):c.300C>T (p.Asp100=) http://identifiers.org/clinvar/46112 ^@ NM_024022.2(TMPRSS3):c.309C>T (p.Asp103=) http://identifiers.org/clinvar/46113 ^@ NM_024022.2(TMPRSS3):c.323-6G>A http://identifiers.org/clinvar/46114 ^@ NM_024022.2(TMPRSS3):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/46115 ^@ NM_024022.2(TMPRSS3):c.331G>A (p.Gly111Ser) http://identifiers.org/clinvar/46116 ^@ NM_024022.2(TMPRSS3):c.333T>C (p.Gly111=) http://identifiers.org/clinvar/46117 ^@ NM_024022.2(TMPRSS3):c.347T>C (p.Val116Ala) http://identifiers.org/clinvar/46118 ^@ NM_024022.2(TMPRSS3):c.412G>A (p.Ala138Thr) http://identifiers.org/clinvar/46119 ^@ NM_024022.2(TMPRSS3):c.413C>A (p.Ala138Glu) http://identifiers.org/clinvar/46120 ^@ NM_024022.2(TMPRSS3):c.432A>G (p.Gln144=) http://identifiers.org/clinvar/46121 ^@ NM_024022.2(TMPRSS3):c.447-13A>G http://identifiers.org/clinvar/46122 ^@ NM_024022.2(TMPRSS3):c.453G>A (p.Val151=) http://identifiers.org/clinvar/46123 ^@ NM_024022.2(TMPRSS3):c.579dupA (p.Cys194Metfs) http://identifiers.org/clinvar/46124 ^@ NM_024022.2(TMPRSS3):c.616+5G>A http://identifiers.org/clinvar/46125 ^@ NM_024022.2(TMPRSS3):c.617-18C>T http://identifiers.org/clinvar/46126 ^@ NM_024022.2(TMPRSS3):c.617-3_617-2dupTA http://identifiers.org/clinvar/46127 ^@ NM_024022.2(TMPRSS3):c.647G>A (p.Arg216His) http://identifiers.org/clinvar/46128 ^@ NM_024022.2(TMPRSS3):c.731G>T (p.Gly244Val) http://identifiers.org/clinvar/46129 ^@ NM_024022.2(TMPRSS3):c.757A>G (p.Ile253Val) http://identifiers.org/clinvar/46130 ^@ NM_024022.2(TMPRSS3):c.783C>T (p.Asp261=) http://identifiers.org/clinvar/46131 ^@ NM_024022.2(TMPRSS3):c.916G>A (p.Ala306Thr) http://identifiers.org/clinvar/46132 ^@ NM_024022.2(TMPRSS3):c.933C>T (p.Ala311=) http://identifiers.org/clinvar/46133 ^@ NM_024022.2(TMPRSS3):c.952+17A>G http://identifiers.org/clinvar/46134 ^@ NM_024022.2(TMPRSS3):c.975G>T (p.Leu325=) http://identifiers.org/clinvar/46135 ^@ NM_024022.2(TMPRSS3):c.993C>T (p.Asn331=) http://identifiers.org/clinvar/46136 ^@ NM_024334.2(TMEM43):c.*8C>T http://identifiers.org/clinvar/46137 ^@ NM_024334.2(TMEM43):c.1000+5G>T http://identifiers.org/clinvar/46138 ^@ NM_024334.2(TMEM43):c.1096G>A (p.Ala366Thr) http://identifiers.org/clinvar/46139 ^@ NM_024334.2(TMEM43):c.1105C>T (p.Leu369Phe) http://identifiers.org/clinvar/46140 ^@ NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) http://identifiers.org/clinvar/46141 ^@ NM_024334.2(TMEM43):c.222C>T (p.Pro74=) http://identifiers.org/clinvar/46142 ^@ NM_024334.2(TMEM43):c.297+13G>A http://identifiers.org/clinvar/46143 ^@ NM_024334.2(TMEM43):c.361A>G (p.Met121Val) http://identifiers.org/clinvar/46144 ^@ NM_024334.2(TMEM43):c.392+4A>G http://identifiers.org/clinvar/46145 ^@ NM_024334.2(TMEM43):c.51T>G (p.Val17=) http://identifiers.org/clinvar/46146 ^@ NM_024334.2(TMEM43):c.413A>G (p.Gln138Arg) http://identifiers.org/clinvar/46147 ^@ NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) http://identifiers.org/clinvar/46148 ^@ NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) http://identifiers.org/clinvar/46149 ^@ NM_024334.2(TMEM43):c.520G>A (p.Ala174Thr) http://identifiers.org/clinvar/46150 ^@ NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) http://identifiers.org/clinvar/46151 ^@ NM_024334.2(TMEM43):c.625T>G (p.Ser209Ala) http://identifiers.org/clinvar/46152 ^@ NM_024334.2(TMEM43):c.705+7G>A http://identifiers.org/clinvar/46153 ^@ NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) http://identifiers.org/clinvar/46154 ^@ NM_024334.2(TMEM43):c.909C>T (p.Ser303=) http://identifiers.org/clinvar/46155 ^@ NM_024334.2(TMEM43):c.947G>C (p.Trp316Ser) http://identifiers.org/clinvar/46156 ^@ NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) http://identifiers.org/clinvar/46157 ^@ NM_024334.2(TMEM43):c.961A>G (p.Met321Val) http://identifiers.org/clinvar/46158 ^@ NM_024422.4(DSC2):c.-408T>C http://identifiers.org/clinvar/46159 ^@ NM_004949.4(DSC2):c.1001G>T (p.Gly334Val) http://identifiers.org/clinvar/46160 ^@ NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) http://identifiers.org/clinvar/46161 ^@ NM_004949.4(DSC2):c.1077+2T>G http://identifiers.org/clinvar/46162 ^@ NM_004949.4(DSC2):c.1091T>G (p.Val364Gly) http://identifiers.org/clinvar/46163 ^@ NM_024422.4(DSC2):c.111A>G (p.Leu37=) http://identifiers.org/clinvar/46164 ^@ NM_004949.4(DSC2):c.1234dupA (p.Thr412Asnfs) http://identifiers.org/clinvar/46165 ^@ NM_024422.4(DSC2):c.1264-5C>T http://identifiers.org/clinvar/46166 ^@ NM_004949.4(DSC2):c.149G>A (p.Gly50Asp) http://identifiers.org/clinvar/46167 ^@ NM_004949.4(DSC2):c.1521-5A>G http://identifiers.org/clinvar/46168 ^@ NM_004949.4(DSC2):c.154+1G>A http://identifiers.org/clinvar/46169 ^@ NM_004949.4(DSC2):c.1552G>C (p.Val518Leu) http://identifiers.org/clinvar/46170 ^@ NM_024422.4(DSC2):c.1729A>G (p.Ile577Val) http://identifiers.org/clinvar/46171 ^@ NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) http://identifiers.org/clinvar/46172 ^@ NM_004949.4(DSC2):c.1901G>A (p.Arg634His) http://identifiers.org/clinvar/46173 ^@ NM_024422.4(DSC2):c.1914G>C (p.Gln638His) http://identifiers.org/clinvar/46174 ^@ NM_004949.4(DSC2):c.1938T>G (p.Tyr646Ter) http://identifiers.org/clinvar/46175 ^@ NM_004949.4(DSC2):c.1971C>A (p.Gly657=) http://identifiers.org/clinvar/46176 ^@ NM_004949.4(DSC2):c.2082G>T (p.Lys694Asn) http://identifiers.org/clinvar/46177 ^@ NM_004949.4(DSC2):c.2357T>C (p.Met786Thr) http://identifiers.org/clinvar/46178 ^@ NM_024422.4(DSC2):c.2326A>G (p.Ile776Val) http://identifiers.org/clinvar/46179 ^@ NM_024422.4(DSC2):c.2393G>T (p.Arg798Leu) http://identifiers.org/clinvar/46180 ^@ NM_004949.4(DSC2):c.2398delG (p.Ala800Leufs) http://identifiers.org/clinvar/46181 ^@ NM_024422.4(DSC2):c.2446G>A (p.Val816Met) http://identifiers.org/clinvar/46182 ^@ NM_024422.4(DSC2):c.2498G>A (p.Arg833His) http://identifiers.org/clinvar/46183 ^@ NM_024422.4(DSC2):c.2587G>A (p.Gly863Arg) http://identifiers.org/clinvar/46184 ^@ NM_024422.4(DSC2):c.2616C>T (p.Cys872=) http://identifiers.org/clinvar/46185 ^@ NM_004949.4(DSC2):c.267G>A (p.Ser89=) http://identifiers.org/clinvar/46186 ^@ NM_024422.4(DSC2):c.2686_2687dupGA (p.Ala897Lysfs) http://identifiers.org/clinvar/46187 ^@ NM_024422.4(DSC2):c.270G>A (p.Glu90=) http://identifiers.org/clinvar/46188 ^@ NM_024422.4(DSC2):c.351A>G (p.Thr117=) http://identifiers.org/clinvar/46189 ^@ NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/46190 ^@ NM_024422.4(DSC2):c.327A>G (p.Ile109Met) http://identifiers.org/clinvar/46191 ^@ NM_024422.4(DSC2):c.32A>G (p.Asn11Ser) http://identifiers.org/clinvar/46192 ^@ NM_004949.4(DSC2):c.474+5C>A http://identifiers.org/clinvar/46193 ^@ NM_004949.4(DSC2):c.630+8_630+10delCTAinsTT http://identifiers.org/clinvar/46195 ^@ NM_004949.4(DSC2):c.702G>A (p.Glu234=) http://identifiers.org/clinvar/46196 ^@ NM_004949.4(DSC2):c.776-12T>G http://identifiers.org/clinvar/46197 ^@ NM_004949.4(DSC2):c.824C>A (p.Thr275Lys) http://identifiers.org/clinvar/46198 ^@ NM_004949.4(DSC2):c.844T>C (p.Tyr282His) http://identifiers.org/clinvar/46199 ^@ NM_024422.4(DSC2):c.846C>G (p.Tyr282Ter) http://identifiers.org/clinvar/46200 ^@ NM_004949.4(DSC2):c.865C>T (p.Pro289Ser) http://identifiers.org/clinvar/46201 ^@ NM_004949.4(DSC2):c.893A>T (p.His298Leu) http://identifiers.org/clinvar/46202 ^@ NM_024422.4(DSC2):c.907G>A (p.Val303Met) http://identifiers.org/clinvar/46203 ^@ NM_004949.4(DSC2):c.942+13_942+15dupTTA http://identifiers.org/clinvar/46204 ^@ NM_004949.4(DSC2):c.96delC (p.Cys32Terfs) http://identifiers.org/clinvar/46205 ^@ NM_004949.4(DSC2):c.977A>C (p.Gln326Pro) http://identifiers.org/clinvar/46206 ^@ NM_001195263.1(PDZD7):c.1011C>T (p.Tyr337=) http://identifiers.org/clinvar/46207 ^@ NM_001195263.1(PDZD7):c.1447G>A (p.Asp483Asn) http://identifiers.org/clinvar/46208 ^@ NM_001195263.1(PDZD7):c.156C>T (p.Asn52=) http://identifiers.org/clinvar/46209 ^@ NM_001195263.1(PDZD7):c.159G>C (p.Gly53=) http://identifiers.org/clinvar/46210 ^@ NM_001195263.1(PDZD7):c.306C>T (p.Arg102=) http://identifiers.org/clinvar/46211 ^@ NM_001195263.1(PDZD7):c.367+7A>G http://identifiers.org/clinvar/46212 ^@ NM_001195263.1(PDZD7):c.936C>T (p.Asn312=) http://identifiers.org/clinvar/46213 ^@ NM_024915.3(GRHL2):c.*6G>A http://identifiers.org/clinvar/46214 ^@ NM_024915.3(GRHL2):c.1098+9C>T http://identifiers.org/clinvar/46215 ^@ NM_024915.3(GRHL2):c.1243G>A (p.Val415Ile) http://identifiers.org/clinvar/46216 ^@ NM_024915.3(GRHL2):c.1723G>A (p.Val575Met) http://identifiers.org/clinvar/46217 ^@ NM_024915.3(GRHL2):c.1806G>C (p.Ser602=) http://identifiers.org/clinvar/46218 ^@ NM_024915.3(GRHL2):c.26A>G (p.Lys9Arg) http://identifiers.org/clinvar/46219 ^@ NM_024915.3(GRHL2):c.373T>G (p.Ser125Ala) http://identifiers.org/clinvar/46220 ^@ NM_024915.3(GRHL2):c.651C>T (p.Ser217=) http://identifiers.org/clinvar/46221 ^@ NM_024915.3(GRHL2):c.689G>A (p.Ser230Asn) http://identifiers.org/clinvar/46223 ^@ NM_030662.3(MAP2K2):c.*8C>T http://identifiers.org/clinvar/46224 ^@ NM_030662.3(MAP2K2):c.*9G>A http://identifiers.org/clinvar/46225 ^@ NM_030662.3(MAP2K2):c.-21_-16dupCCGCCG http://identifiers.org/clinvar/46226 ^@ NM_030662.3(MAP2K2):c.1020C>T (p.Pro340=) http://identifiers.org/clinvar/46227 ^@ NM_030662.3(MAP2K2):c.1065G>A (p.Ala355=) http://identifiers.org/clinvar/46228 ^@ NM_030662.3(MAP2K2):c.1093-6T>C http://identifiers.org/clinvar/46229 ^@ NM_030662.3(MAP2K2):c.246C>T (p.Asn82=) http://identifiers.org/clinvar/46230 ^@ NM_030662.3(MAP2K2):c.258C>A (p.Val86=) http://identifiers.org/clinvar/46231 ^@ NM_030662.3(MAP2K2):c.287_288delTCinsGT (p.Leu96Arg) http://identifiers.org/clinvar/46232 ^@ NM_030662.3(MAP2K2):c.289A>T (p.Ile97Phe) http://identifiers.org/clinvar/46233 ^@ NM_030662.3(MAP2K2):c.303+12G>A http://identifiers.org/clinvar/46234 ^@ NM_030662.3(MAP2K2):c.391G>A (p.Val131Met) http://identifiers.org/clinvar/46235 ^@ NM_030662.3(MAP2K2):c.420C>T (p.Asp140=) http://identifiers.org/clinvar/46236 ^@ NM_030662.3(MAP2K2):c.450+14G>A http://identifiers.org/clinvar/46237 ^@ NM_030662.3(MAP2K2):c.453C>T (p.Asp151=) http://identifiers.org/clinvar/46238 ^@ NM_030662.3(MAP2K2):c.49A>G (p.Thr17Ala) http://identifiers.org/clinvar/46239 ^@ NM_030662.3(MAP2K2):c.525C>T (p.Ile175=) http://identifiers.org/clinvar/46240 ^@ NM_030662.3(MAP2K2):c.678C>T (p.Ser226=) http://identifiers.org/clinvar/46241 ^@ NM_030662.3(MAP2K2):c.705+10C>T http://identifiers.org/clinvar/46242 ^@ NM_030662.3(MAP2K2):c.784G>A (p.Val262Ile) http://identifiers.org/clinvar/46243 ^@ NM_030662.3(MAP2K2):c.939G>T (p.Arg313=) http://identifiers.org/clinvar/46244 ^@ NM_032119.3(ADGRV1):c.10039T>C (p.Phe3347Leu) http://identifiers.org/clinvar/46245 ^@ NM_032119.3(ADGRV1):c.10229_10231dupTGG (p.Val3410_Ala3411insVal) http://identifiers.org/clinvar/46246 ^@ NM_032119.3(ADGRV1):c.10260C>T (p.Phe3420=) http://identifiers.org/clinvar/46247 ^@ NM_032119.3(ADGRV1):c.10339G>A (p.Glu3447Lys) http://identifiers.org/clinvar/46248 ^@ NM_032119.3(ADGRV1):c.10411G>A (p.Glu3471Lys) http://identifiers.org/clinvar/46249 ^@ NM_032119.3(ADGRV1):c.10577T>C (p.Met3526Thr) http://identifiers.org/clinvar/46250 ^@ NM_032119.3(ADGRV1):c.10607G>A (p.Arg3536His) http://identifiers.org/clinvar/46251 ^@ NM_032119.3(ADGRV1):c.10769+9A>G http://identifiers.org/clinvar/46252 ^@ NM_032119.3(ADGRV1):c.10872A>G (p.Gln3624=) http://identifiers.org/clinvar/46253 ^@ NM_032119.3(ADGRV1):c.11031C>T (p.Asn3677=) http://identifiers.org/clinvar/46254 ^@ NM_032119.3(ADGRV1):c.11253C>G (p.Tyr3751Ter) http://identifiers.org/clinvar/46255 ^@ NM_032119.3(ADGRV1):c.11472G>A (p.Leu3824=) http://identifiers.org/clinvar/46256 ^@ NM_032119.3(ADGRV1):c.11581-3dupC http://identifiers.org/clinvar/46257 ^@ NM_032119.3(ADGRV1):c.11599G>A (p.Glu3867Lys) http://identifiers.org/clinvar/46258 ^@ NM_032119.3(ADGRV1):c.11682C>T (p.Pro3894=) http://identifiers.org/clinvar/46259 ^@ NM_032119.3(ADGRV1):c.12269C>A (p.Thr4090Asn) http://identifiers.org/clinvar/46260 ^@ NM_032119.3(ADGRV1):c.12476A>C (p.His4159Pro) http://identifiers.org/clinvar/46261 ^@ NM_032119.3(ADGRV1):c.12586C>T (p.Pro4196Ser) http://identifiers.org/clinvar/46262 ^@ NM_032119.3(ADGRV1):c.12592G>A (p.Val4198Met) http://identifiers.org/clinvar/46263 ^@ NM_032119.3(ADGRV1):c.12637G>A (p.Glu4213Lys) http://identifiers.org/clinvar/46264 ^@ NM_032119.3(ADGRV1):c.12927G>A (p.Ala4309=) http://identifiers.org/clinvar/46265 ^@ NM_032119.3(ADGRV1):c.13037C>T (p.Pro4346Leu) http://identifiers.org/clinvar/46266 ^@ NM_032119.3(ADGRV1):c.13232-7A>G http://identifiers.org/clinvar/46267 ^@ NM_032119.3(ADGRV1):c.13590C>T (p.Pro4530=) http://identifiers.org/clinvar/46268 ^@ NM_032119.3(ADGRV1):c.13599A>G (p.Thr4533=) http://identifiers.org/clinvar/46269 ^@ NM_032119.3(ADGRV1):c.14029T>C (p.Phe4677Leu) http://identifiers.org/clinvar/46270 ^@ NM_032119.3(ADGRV1):c.14309G>A (p.Arg4770His) http://identifiers.org/clinvar/46271 ^@ NM_032119.3(ADGRV1):c.14515C>G (p.Gln4839Glu) http://identifiers.org/clinvar/46272 ^@ NM_032119.3(ADGRV1):c.1464G>A (p.Leu488=) http://identifiers.org/clinvar/46273 ^@ NM_032119.3(ADGRV1):c.14654A>G (p.Asn4885Ser) http://identifiers.org/clinvar/46274 ^@ NM_032119.3(ADGRV1):c.14905T>C (p.Trp4969Arg) http://identifiers.org/clinvar/46275 ^@ NM_032119.3(ADGRV1):c.14973-2A>G http://identifiers.org/clinvar/46276 ^@ NM_032119.3(ADGRV1):c.1505C>T (p.Ala502Val) http://identifiers.org/clinvar/46277 ^@ NM_032119.3(ADGRV1):c.15076C>T (p.His5026Tyr) http://identifiers.org/clinvar/46278 ^@ NM_032119.3(ADGRV1):c.1509+11T>C http://identifiers.org/clinvar/46279 ^@ NM_032119.3(ADGRV1):c.15471C>T (p.Ser5157=) http://identifiers.org/clinvar/46280 ^@ NM_032119.3(ADGRV1):c.15608A>G (p.Glu5203Gly) http://identifiers.org/clinvar/46281 ^@ NM_032119.3(ADGRV1):c.15786C>T (p.Phe5262=) http://identifiers.org/clinvar/46282 ^@ NM_032119.3(ADGRV1):c.16031A>G (p.Glu5344Gly) http://identifiers.org/clinvar/46283 ^@ NM_032119.3(ADGRV1):c.16164A>G (p.Arg5388=) http://identifiers.org/clinvar/46284 ^@ NM_032119.3(ADGRV1):c.16248C>T (p.Val5416=) http://identifiers.org/clinvar/46285 ^@ NM_032119.3(ADGRV1):c.16279G>A (p.Val5427Met) http://identifiers.org/clinvar/46286 ^@ NM_032119.3(ADGRV1):c.1652T>C (p.Val551Ala) http://identifiers.org/clinvar/46287 ^@ NM_032119.3(ADGRV1):c.16841C>T (p.Thr5614Ile) http://identifiers.org/clinvar/46288 ^@ NM_032119.3(ADGRV1):c.17017A>G (p.Lys5673Glu) http://identifiers.org/clinvar/46289 ^@ NM_032119.3(ADGRV1):c.1711A>G (p.Lys571Glu) http://identifiers.org/clinvar/46290 ^@ NM_032119.3(ADGRV1):c.1718G>T (p.Gly573Val) http://identifiers.org/clinvar/46291 ^@ NM_032119.3(ADGRV1):c.17626G>A (p.Val5876Ile) http://identifiers.org/clinvar/46292 ^@ NM_032119.3(ADGRV1):c.17662delT (p.Ser5888Hisfs) http://identifiers.org/clinvar/46293 ^@ NM_032119.3(ADGRV1):c.1776C>A (p.Val592=) http://identifiers.org/clinvar/46294 ^@ NM_032119.3(ADGRV1):c.17856+11G>A http://identifiers.org/clinvar/46295 ^@ NM_032119.3(ADGRV1):c.17920G>T (p.Ala5974Ser) http://identifiers.org/clinvar/46296 ^@ NM_032119.3(ADGRV1):c.1817A>C (p.Asn606Thr) http://identifiers.org/clinvar/46297 ^@ NM_032119.3(ADGRV1):c.1839+7G>A http://identifiers.org/clinvar/46298 ^@ NM_032119.3(ADGRV1):c.18475A>G (p.Met6159Val) http://identifiers.org/clinvar/46299 ^@ NM_032119.3(ADGRV1):c.18625-7T>C http://identifiers.org/clinvar/46300 ^@ NM_032119.3(ADGRV1):c.18741G>A (p.Gly6247=) http://identifiers.org/clinvar/46301 ^@ NM_032119.3(ADGRV1):c.18746T>G (p.Leu6249Arg) http://identifiers.org/clinvar/46302 ^@ NM_032119.3(ADGRV1):c.18775G>T (p.Asp6259Tyr) http://identifiers.org/clinvar/46303 ^@ NM_032119.3(ADGRV1):c.18803-13A>G http://identifiers.org/clinvar/46304 ^@ NM_032119.3(ADGRV1):c.2001T>C (p.Asp667=) http://identifiers.org/clinvar/46305 ^@ NM_032119.3(ADGRV1):c.2367+8C>T http://identifiers.org/clinvar/46306 ^@ NM_032119.3(ADGRV1):c.2398C>T (p.Arg800Ter) http://identifiers.org/clinvar/46307 ^@ NM_032119.3(ADGRV1):c.2553+11T>A http://identifiers.org/clinvar/46308 ^@ NM_032119.3(ADGRV1):c.2735-10C>A http://identifiers.org/clinvar/46309 ^@ NM_032119.3(ADGRV1):c.2870dupA (p.Asn957Lysfs) http://identifiers.org/clinvar/46310 ^@ NM_032119.3(ADGRV1):c.3141A>G (p.Ala1047=) http://identifiers.org/clinvar/46311 ^@ NM_032119.3(ADGRV1):c.3151G>T (p.Asp1051Tyr) http://identifiers.org/clinvar/46312 ^@ NM_032119.3(ADGRV1):c.3191A>C (p.Glu1064Ala) http://identifiers.org/clinvar/46313 ^@ NM_032119.3(ADGRV1):c.3279G>T (p.Leu1093Phe) http://identifiers.org/clinvar/46314 ^@ NM_032119.3(ADGRV1):c.327C>T (p.Asp109=) http://identifiers.org/clinvar/46315 ^@ NM_032119.3(ADGRV1):c.3303A>G (p.Val1101=) http://identifiers.org/clinvar/46316 ^@ NM_032119.3(ADGRV1):c.3443G>A (p.Gly1148Asp) http://identifiers.org/clinvar/46317 ^@ NM_032119.3(ADGRV1):c.3482C>G (p.Ser1161Cys) http://identifiers.org/clinvar/46318 ^@ NM_032119.3(ADGRV1):c.3509A>G (p.Tyr1170Cys) http://identifiers.org/clinvar/46319 ^@ NM_032119.3(ADGRV1):c.3559A>G (p.Ile1187Val) http://identifiers.org/clinvar/46320 ^@ NM_032119.3(ADGRV1):c.3775T>A (p.Ser1259Thr) http://identifiers.org/clinvar/46321 ^@ NM_032119.3(ADGRV1):c.380T>G (p.Leu127Arg) http://identifiers.org/clinvar/46322 ^@ NM_032119.3(ADGRV1):c.4032C>T (p.Tyr1344=) http://identifiers.org/clinvar/46323 ^@ NM_032119.3(ADGRV1):c.4094C>A (p.Ala1365Asp) http://identifiers.org/clinvar/46324 ^@ NM_032119.3(ADGRV1):c.4119G>A (p.Ala1373=) http://identifiers.org/clinvar/46325 ^@ NM_032119.3(ADGRV1):c.4214C>T (p.Ser1405Phe) http://identifiers.org/clinvar/46326 ^@ NM_032119.3(ADGRV1):c.4254T>C (p.Tyr1418=) http://identifiers.org/clinvar/46327 ^@ NM_032119.3(ADGRV1):c.4260A>G (p.Glu1420=) http://identifiers.org/clinvar/46328 ^@ NM_032119.3(ADGRV1):c.4349A>G (p.Lys1450Arg) http://identifiers.org/clinvar/46329 ^@ NM_032119.3(ADGRV1):c.4506C>T (p.Pro1502=) http://identifiers.org/clinvar/46330 ^@ NM_032119.3(ADGRV1):c.463A>G (p.Ile155Val) http://identifiers.org/clinvar/46331 ^@ NM_032119.3(ADGRV1):c.4939A>G (p.Ile1647Val) http://identifiers.org/clinvar/46332 ^@ NM_032119.3(ADGRV1):c.5110+13T>C http://identifiers.org/clinvar/46333 ^@ NM_032119.3(ADGRV1):c.5221T>C (p.Leu1741=) http://identifiers.org/clinvar/46334 ^@ NM_032119.3(ADGRV1):c.5304G>A (p.Glu1768=) http://identifiers.org/clinvar/46335 ^@ NM_032119.3(ADGRV1):c.5346A>G (p.Gly1782=) http://identifiers.org/clinvar/46336 ^@ NM_032119.3(ADGRV1):c.5524+15C>T http://identifiers.org/clinvar/46337 ^@ NM_032119.3(ADGRV1):c.5525-7C>T http://identifiers.org/clinvar/46338 ^@ NM_032119.3(ADGRV1):c.5576A>G (p.His1859Arg) http://identifiers.org/clinvar/46339 ^@ NM_032119.3(ADGRV1):c.5780C>T (p.Thr1927Met) http://identifiers.org/clinvar/46340 ^@ NM_032119.3(ADGRV1):c.5785G>T (p.Ala1929Ser) http://identifiers.org/clinvar/46341 ^@ NM_032119.3(ADGRV1):c.581C>A (p.Pro194His) http://identifiers.org/clinvar/46342 ^@ NM_032119.3(ADGRV1):c.5830G>A (p.Asp1944Asn) http://identifiers.org/clinvar/46343 ^@ NM_032119.3(ADGRV1):c.5851G>A (p.Val1951Ile) http://identifiers.org/clinvar/46344 ^@ NM_032119.3(ADGRV1):c.5953A>G (p.Asn1985Asp) http://identifiers.org/clinvar/46345 ^@ NM_032119.3(ADGRV1):c.5960C>T (p.Pro1987Leu) http://identifiers.org/clinvar/46346 ^@ NM_032119.3(ADGRV1):c.6012G>T (p.Leu2004Phe) http://identifiers.org/clinvar/46347 ^@ NM_032119.3(ADGRV1):c.6095C>T (p.Ala2032Val) http://identifiers.org/clinvar/46348 ^@ NM_032119.3(ADGRV1):c.6133G>A (p.Gly2045Arg) http://identifiers.org/clinvar/46349 ^@ NM_032119.3(ADGRV1):c.6242C>G (p.Ser2081Cys) http://identifiers.org/clinvar/46350 ^@ NM_032119.3(ADGRV1):c.6289C>T (p.Arg2097Cys) http://identifiers.org/clinvar/46351 ^@ NM_032119.3(ADGRV1):c.6317C>T (p.Ala2106Val) http://identifiers.org/clinvar/46352 ^@ NM_032119.3(ADGRV1):c.6318G>A (p.Ala2106=) http://identifiers.org/clinvar/46353 ^@ NM_032119.3(ADGRV1):c.6443C>T (p.Ala2148Val) http://identifiers.org/clinvar/46354 ^@ NM_032119.3(ADGRV1):c.6608T>C (p.Val2203Ala) http://identifiers.org/clinvar/46355 ^@ NM_032119.3(ADGRV1):c.6676G>A (p.Glu2226Lys) http://identifiers.org/clinvar/46356 ^@ NM_032119.3(ADGRV1):c.6695A>G (p.Tyr2232Cys) http://identifiers.org/clinvar/46357 ^@ NM_032119.3(ADGRV1):c.690A>C (p.Glu230Asp) http://identifiers.org/clinvar/46358 ^@ NM_032119.3(ADGRV1):c.6952-10G>A http://identifiers.org/clinvar/46359 ^@ NM_032119.3(ADGRV1):c.6994A>T (p.Ile2332Phe) http://identifiers.org/clinvar/46360 ^@ NM_032119.3(ADGRV1):c.7034A>G (p.Asn2345Ser) http://identifiers.org/clinvar/46361 ^@ NM_032119.3(ADGRV1):c.7079G>A (p.Arg2360His) http://identifiers.org/clinvar/46362 ^@ NM_032119.3(ADGRV1):c.7150C>T (p.Arg2384Trp) http://identifiers.org/clinvar/46363 ^@ NM_032119.3(ADGRV1):c.7176C>T (p.Ser2392=) http://identifiers.org/clinvar/46364 ^@ NM_032119.3(ADGRV1):c.7179C>T (p.Asp2393=) http://identifiers.org/clinvar/46365 ^@ NM_032119.3(ADGRV1):c.7206G>A (p.Glu2402=) http://identifiers.org/clinvar/46366 ^@ NM_032119.3(ADGRV1):c.7229A>G (p.Tyr2410Cys) http://identifiers.org/clinvar/46367 ^@ NM_032119.3(ADGRV1):c.7284T>C (p.Asn2428=) http://identifiers.org/clinvar/46368 ^@ NM_032119.3(ADGRV1):c.7293C>T (p.Ala2431=) http://identifiers.org/clinvar/46369 ^@ NM_032119.3(ADGRV1):c.7294G>A (p.Val2432Met) http://identifiers.org/clinvar/46370 ^@ NM_032119.3(ADGRV1):c.7374_7375delTG (p.Glu2459Glyfs) http://identifiers.org/clinvar/46371 ^@ NM_032119.3(ADGRV1):c.7406G>A (p.Trp2469Ter) http://identifiers.org/clinvar/46372 ^@ NM_032119.3(ADGRV1):c.7452A>T (p.Lys2484Asn) http://identifiers.org/clinvar/46373 ^@ NM_032119.3(ADGRV1):c.7468G>A (p.Ala2490Thr) http://identifiers.org/clinvar/46374 ^@ NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) http://identifiers.org/clinvar/46375 ^@ NM_032119.3(ADGRV1):c.7569A>G (p.Thr2523=) http://identifiers.org/clinvar/46376 ^@ NM_032119.3(ADGRV1):c.7576A>G (p.Ile2526Val) http://identifiers.org/clinvar/46377 ^@ NM_032119.3(ADGRV1):c.7582C>T (p.Pro2528Ser) http://identifiers.org/clinvar/46378 ^@ NM_032119.3(ADGRV1):c.7631A>G (p.Glu2544Gly) http://identifiers.org/clinvar/46379 ^@ NM_032119.3(ADGRV1):c.7751A>G (p.Asn2584Ser) http://identifiers.org/clinvar/46380 ^@ NM_032119.3(ADGRV1):c.7813T>G (p.Leu2605Val) http://identifiers.org/clinvar/46381 ^@ NM_032119.3(ADGRV1):c.7874G>A (p.Arg2625His) http://identifiers.org/clinvar/46382 ^@ NM_032119.3(ADGRV1):c.7945+6C>T http://identifiers.org/clinvar/46383 ^@ NM_032119.3(ADGRV1):c.8110A>T (p.Ile2704Phe) http://identifiers.org/clinvar/46384 ^@ NM_032119.3(ADGRV1):c.8133C>T (p.Ser2711=) http://identifiers.org/clinvar/46385 ^@ NM_032119.3(ADGRV1):c.8155+4G>T http://identifiers.org/clinvar/46386 ^@ NM_032119.3(ADGRV1):c.8161A>G (p.Ile2721Val) http://identifiers.org/clinvar/46387 ^@ NM_032119.3(ADGRV1):c.8291C>T (p.Ser2764Leu) http://identifiers.org/clinvar/46388 ^@ NM_032119.3(ADGRV1):c.8396C>T (p.Pro2799Leu) http://identifiers.org/clinvar/46389 ^@ NM_032119.3(ADGRV1):c.8407G>A (p.Ala2803Thr) http://identifiers.org/clinvar/46390 ^@ NM_032119.3(ADGRV1):c.8538T>G (p.Leu2846=) http://identifiers.org/clinvar/46391 ^@ NM_032119.3(ADGRV1):c.854G>A (p.Arg285His) http://identifiers.org/clinvar/46392 ^@ NM_032119.3(ADGRV1):c.8567-13C>T http://identifiers.org/clinvar/46393 ^@ NM_032119.3(ADGRV1):c.8572A>G (p.Ile2858Val) http://identifiers.org/clinvar/46394 ^@ NM_032119.3(ADGRV1):c.8591C>T (p.Thr2864Met) http://identifiers.org/clinvar/46395 ^@ NM_032119.3(ADGRV1):c.8651T>C (p.Val2884Ala) http://identifiers.org/clinvar/46396 ^@ NM_032119.3(ADGRV1):c.8691A>C (p.Glu2897Asp) http://identifiers.org/clinvar/46397 ^@ NM_032119.3(ADGRV1):c.8730+10_8730+11insC http://identifiers.org/clinvar/46398 ^@ NM_032119.3(ADGRV1):c.8730+9_8730+10delCT http://identifiers.org/clinvar/46399 ^@ NM_032119.3(ADGRV1):c.8737delG (p.Val2913Tyrfs) http://identifiers.org/clinvar/46400 ^@ NM_032119.3(ADGRV1):c.8876G>A (p.Arg2959Gln) http://identifiers.org/clinvar/46401 ^@ NM_032119.3(ADGRV1):c.8938T>C (p.Leu2980=) http://identifiers.org/clinvar/46402 ^@ NM_032119.3(ADGRV1):c.9213C>T (p.Asp3071=) http://identifiers.org/clinvar/46403 ^@ NM_032119.3(ADGRV1):c.9280G>A (p.Val3094Ile) http://identifiers.org/clinvar/46404 ^@ NM_032119.3(ADGRV1):c.9440G>A (p.Arg3147Gln) http://identifiers.org/clinvar/46405 ^@ NM_032119.3(ADGRV1):c.9466A>G (p.Ile3156Val) http://identifiers.org/clinvar/46406 ^@ NM_032119.3(ADGRV1):c.9643G>A (p.Glu3215Lys) http://identifiers.org/clinvar/46407 ^@ NM_032119.3(ADGRV1):c.9743G>A (p.Gly3248Asp) http://identifiers.org/clinvar/46408 ^@ NM_032119.3(ADGRV1):c.9771C>T (p.Ser3257=) http://identifiers.org/clinvar/46409 ^@ NM_032119.3(ADGRV1):c.9927T>G (p.Pro3309=) http://identifiers.org/clinvar/46410 ^@ NM_032978.6(DTNA):c.1000G>A (p.Val334Met) http://identifiers.org/clinvar/46411 ^@ NM_001392.4(DTNA):c.*22763C>A http://identifiers.org/clinvar/46412 ^@ NM_032978.6(DTNA):c.1390G>A (p.Asp464Asn) http://identifiers.org/clinvar/46413 ^@ NM_001390.4(DTNA):c.1404G>A (p.Ala468=) http://identifiers.org/clinvar/46414 ^@ NM_001390.4(DTNA):c.1410G>A (p.Lys470=) http://identifiers.org/clinvar/46415 ^@ NM_032975.3(DTNA):c.148+7A>G http://identifiers.org/clinvar/46416 ^@ NM_001392.4(DTNA):c.*35005G>A http://identifiers.org/clinvar/46417 ^@ NM_001390.4(DTNA):c.1663-10G>T http://identifiers.org/clinvar/46418 ^@ NM_001390.4(DTNA):c.1740G>A (p.Ala580=) http://identifiers.org/clinvar/46419 ^@ NM_001390.4(DTNA):c.1766C>T (p.Thr589Met) http://identifiers.org/clinvar/46420 ^@ NM_001390.4(DTNA):c.1912+7T>C http://identifiers.org/clinvar/46421 ^@ NM_001390.4(DTNA):c.17G>C (p.Gly6Ala) http://identifiers.org/clinvar/46422 ^@ NM_032975.3(DTNA):c.1856G>A (p.Arg619Gln) http://identifiers.org/clinvar/46423 ^@ NM_001390.4(DTNA):c.231C>T (p.Asn77=) http://identifiers.org/clinvar/46424 ^@ NM_032978.6(DTNA):c.243A>G (p.Leu81=) http://identifiers.org/clinvar/46425 ^@ NM_001390.4(DTNA):c.51G>A (p.Gln17=) http://identifiers.org/clinvar/46426 ^@ NM_001390.4(DTNA):c.537G>T (p.Thr179=) http://identifiers.org/clinvar/46427 ^@ NM_032978.6(DTNA):c.604-14G>T http://identifiers.org/clinvar/46428 ^@ NM_001390.4(DTNA):c.933C>T (p.Ser311=) http://identifiers.org/clinvar/46429 ^@ NM_001390.4(DTNA):c.999C>T (p.Ile333=) http://identifiers.org/clinvar/46430 ^@ NM_001198938.1(DTNA):c.1086-10210T>C http://identifiers.org/clinvar/46431 ^@ NM_032978.6(DTNA):c.1207C>T (p.His403Tyr) http://identifiers.org/clinvar/46432 ^@ NM_032978.6(DTNA):c.1256+5G>C http://identifiers.org/clinvar/46433 ^@ NM_033056.3(PCDH15):c.1028G>A (p.Arg343Lys) http://identifiers.org/clinvar/46434 ^@ NM_033056.3(PCDH15):c.1039C>T (p.Leu347Phe) http://identifiers.org/clinvar/46435 ^@ NM_033056.3(PCDH15):c.1121C>T (p.Pro374Leu) http://identifiers.org/clinvar/46436 ^@ NM_001142763.1(PCDH15):c.1153G>A (p.Gly385Ser) http://identifiers.org/clinvar/46437 ^@ NM_033056.3(PCDH15):c.1169A>G (p.Asn390Ser) http://identifiers.org/clinvar/46438 ^@ NM_033056.3(PCDH15):c.1181A>G (p.Tyr394Cys) http://identifiers.org/clinvar/46439 ^@ NM_001142763.1(PCDH15):c.1278T>C (p.Thr426=) http://identifiers.org/clinvar/46440 ^@ NM_033056.3(PCDH15):c.1304A>C (p.Asp435Ala) http://identifiers.org/clinvar/46441 ^@ NM_033056.3(PCDH15):c.1339G>A (p.Asp447Asn) http://identifiers.org/clinvar/46442 ^@ NM_033056.3(PCDH15):c.1360G>A (p.Val454Ile) http://identifiers.org/clinvar/46443 ^@ NM_033056.3(PCDH15):c.1362C>T (p.Val454=) http://identifiers.org/clinvar/46444 ^@ NM_033056.3(PCDH15):c.157+3A>G http://identifiers.org/clinvar/46445 ^@ NM_033056.3(PCDH15):c.1653G>A (p.Gly551=) http://identifiers.org/clinvar/46446 ^@ NM_033056.3(PCDH15):c.16delT (p.Tyr6Ilefs) http://identifiers.org/clinvar/46447 ^@ NM_033056.3(PCDH15):c.1702G>A (p.Ala568Thr) http://identifiers.org/clinvar/46448 ^@ NM_033056.3(PCDH15):c.1910A>G (p.Asn637Ser) http://identifiers.org/clinvar/46449 ^@ NM_033056.3(PCDH15):c.1998-2A>G http://identifiers.org/clinvar/46450 ^@ NM_033056.3(PCDH15):c.2424G>C (p.Lys808Asn) http://identifiers.org/clinvar/46451 ^@ NM_033056.3(PCDH15):c.2439T>A (p.Asp813Glu) http://identifiers.org/clinvar/46452 ^@ NM_033056.3(PCDH15):c.243G>A (p.Val81=) http://identifiers.org/clinvar/46453 ^@ NM_033056.3(PCDH15):c.2563C>T (p.Arg855Trp) http://identifiers.org/clinvar/46454 ^@ NM_033056.3(PCDH15):c.2625G>A (p.Ser875=) http://identifiers.org/clinvar/46455 ^@ NM_033056.3(PCDH15):c.2717C>T (p.Pro906Leu) http://identifiers.org/clinvar/46456 ^@ NM_033056.3(PCDH15):c.2786G>A (p.Arg929Gln) http://identifiers.org/clinvar/46457 ^@ NM_033056.3(PCDH15):c.2885G>A (p.Arg962His) http://identifiers.org/clinvar/46458 ^@ NM_033056.3(PCDH15):c.2885G>T (p.Arg962Leu) http://identifiers.org/clinvar/46459 ^@ NM_033056.3(PCDH15):c.2990A>G (p.Glu997Gly) http://identifiers.org/clinvar/46460 ^@ NM_033056.3(PCDH15):c.2992C>G (p.Pro998Ala) http://identifiers.org/clinvar/46461 ^@ NM_033056.3(PCDH15):c.3018G>T (p.Val1006=) http://identifiers.org/clinvar/46462 ^@ NM_033056.3(PCDH15):c.3131C>T (p.Pro1044Leu) http://identifiers.org/clinvar/46463 ^@ NM_033056.3(PCDH15):c.330C>T (p.Asn110=) http://identifiers.org/clinvar/46464 ^@ NM_033056.3(PCDH15):c.3316C>T (p.Arg1106Ter) http://identifiers.org/clinvar/46465 ^@ NM_033056.3(PCDH15):c.3373+3A>G http://identifiers.org/clinvar/46466 ^@ NM_001142771.1(PCDH15):c.3389-4C>T http://identifiers.org/clinvar/46467 ^@ NM_033056.3(PCDH15):c.343G>A (p.Val115Met) http://identifiers.org/clinvar/46468 ^@ NM_033056.3(PCDH15):c.3502-14dupT http://identifiers.org/clinvar/46469 ^@ NM_033056.3(PCDH15):c.3502-8C>T http://identifiers.org/clinvar/46470 ^@ NM_033056.3(PCDH15):c.3532G>A (p.Val1178Ile) http://identifiers.org/clinvar/46471 ^@ NM_033056.3(PCDH15):c.3585T>C (p.Phe1195=) http://identifiers.org/clinvar/46472 ^@ NM_033056.3(PCDH15):c.3718-19C>A http://identifiers.org/clinvar/46473 ^@ NM_033056.3(PCDH15):c.3719T>A (p.Val1240Asp) http://identifiers.org/clinvar/46474 ^@ NM_033056.3(PCDH15):c.3795A>T (p.Glu1265Asp) http://identifiers.org/clinvar/46475 ^@ NM_033056.3(PCDH15):c.3817C>A (p.Arg1273Ser) http://identifiers.org/clinvar/46476 ^@ NM_033056.3(PCDH15):c.3984-20C>T http://identifiers.org/clinvar/46477 ^@ NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) http://identifiers.org/clinvar/46478 ^@ NM_033056.3(PCDH15):c.4080G>A (p.Val1360=) http://identifiers.org/clinvar/46479 ^@ NM_033056.3(PCDH15):c.4103A>G (p.Glu1368Gly) http://identifiers.org/clinvar/46480 ^@ NM_033056.3(PCDH15):c.4334C>G (p.Ala1445Gly) http://identifiers.org/clinvar/46481 ^@ NM_033056.3(PCDH15):c.4343A>G (p.Tyr1448Cys) http://identifiers.org/clinvar/46482 ^@ NM_033056.3(PCDH15):c.4581C>A (p.Pro1527=) http://identifiers.org/clinvar/46483 ^@ NM_033056.3(PCDH15):c.4592A>G (p.Glu1531Gly) http://identifiers.org/clinvar/46484 ^@ NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) http://identifiers.org/clinvar/46485 ^@ NM_033056.3(PCDH15):c.475-3C>T http://identifiers.org/clinvar/46486 ^@ NM_033056.3(PCDH15):c.4783A>C (p.Ile1595Leu) http://identifiers.org/clinvar/46487 ^@ NM_033056.3(PCDH15):c.4884T>C (p.Thr1628=) http://identifiers.org/clinvar/46488 ^@ NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) http://identifiers.org/clinvar/46489 ^@ NM_033056.3(PCDH15):c.5269_5280delTCTCCTCCTCCT (p.Ser1757_Pro1760del) http://identifiers.org/clinvar/46490 ^@ NM_033056.3(PCDH15):c.5278C>A (p.Pro1760Thr) http://identifiers.org/clinvar/46491 ^@ NM_033056.3(PCDH15):c.5283T>A (p.Ala1761=) http://identifiers.org/clinvar/46492 ^@ NM_033056.3(PCDH15):c.5286T>A (p.Pro1762=) http://identifiers.org/clinvar/46493 ^@ NM_033056.3(PCDH15):c.5287_5292delGCTCCT (p.Ala1763_Pro1764del) http://identifiers.org/clinvar/46494 ^@ NM_033056.3(PCDH15):c.5296_5304dupGCTCCTCCT (p.Pro1768_Pro1769insAlaProPro) http://identifiers.org/clinvar/46495 ^@ NM_033056.3(PCDH15):c.5327_5335delTTTTTTGTC (p.Leu1776_Cys1778del) http://identifiers.org/clinvar/46496 ^@ NM_033056.3(PCDH15):c.5346T>A (p.Ser1782=) http://identifiers.org/clinvar/46497 ^@ NM_033056.3(PCDH15):c.5353T>C (p.Ser1785Pro) http://identifiers.org/clinvar/46498 ^@ NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) http://identifiers.org/clinvar/46499 ^@ NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile) http://identifiers.org/clinvar/46500 ^@ NM_033056.3(PCDH15):c.5414C>T (p.Pro1805Leu) http://identifiers.org/clinvar/46501 ^@ NM_033056.3(PCDH15):c.546A>G (p.Gly182=) http://identifiers.org/clinvar/46502 ^@ NM_033056.3(PCDH15):c.5550C>A (p.Thr1850=) http://identifiers.org/clinvar/46503 ^@ NM_033056.3(PCDH15):c.5565C>T (p.Ala1855=) http://identifiers.org/clinvar/46504 ^@ NM_033056.3(PCDH15):c.55T>G (p.Ser19Ala) http://identifiers.org/clinvar/46505 ^@ NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) http://identifiers.org/clinvar/46506 ^@ NM_033056.3(PCDH15):c.5603C>T (p.Thr1868Met) http://identifiers.org/clinvar/46507 ^@ NM_033056.3(PCDH15):c.5707A>G (p.Ile1903Val) http://identifiers.org/clinvar/46508 ^@ NM_033056.3(PCDH15):c.5726G>A (p.Arg1909His) http://identifiers.org/clinvar/46509 ^@ NM_033056.3(PCDH15):c.593C>T (p.Pro198Leu) http://identifiers.org/clinvar/46510 ^@ NM_033056.3(PCDH15):c.607A>G (p.Thr203Ala) http://identifiers.org/clinvar/46511 ^@ NM_033056.3(PCDH15):c.706-8C>T http://identifiers.org/clinvar/46512 ^@ NM_033056.3(PCDH15):c.947C>T (p.Pro316Leu) http://identifiers.org/clinvar/46513 ^@ NM_033056.3(PCDH15):c.960A>G (p.Pro320=) http://identifiers.org/clinvar/46514 ^@ NM_033118.3(MYLK2):c.-13G>A http://identifiers.org/clinvar/46515 ^@ NM_033118.3(MYLK2):c.1016A>G (p.His339Arg) http://identifiers.org/clinvar/46516 ^@ NM_033118.3(MYLK2):c.102A>G (p.Lys34=) http://identifiers.org/clinvar/46517 ^@ NM_033118.3(MYLK2):c.1068C>T (p.Val356=) http://identifiers.org/clinvar/46518 ^@ NM_033118.3(MYLK2):c.1104C>T (p.Phe368=) http://identifiers.org/clinvar/46519 ^@ NM_033118.3(MYLK2):c.1123G>A (p.Asp375Asn) http://identifiers.org/clinvar/46520 ^@ NM_033118.3(MYLK2):c.1308C>T (p.Asn436=) http://identifiers.org/clinvar/46521 ^@ NM_033118.3(MYLK2):c.1711-4C>T http://identifiers.org/clinvar/46522 ^@ NM_033118.3(MYLK2):c.173C>A (p.Ala58Asp) http://identifiers.org/clinvar/46523 ^@ NM_033118.3(MYLK2):c.266G>A (p.Gly89Asp) http://identifiers.org/clinvar/46524 ^@ NM_033118.3(MYLK2):c.277C>A (p.Pro93Thr) http://identifiers.org/clinvar/46525 ^@ NM_033118.3(MYLK2):c.393G>A (p.Lys131=) http://identifiers.org/clinvar/46526 ^@ NM_033118.3(MYLK2):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/46527 ^@ NM_033118.3(MYLK2):c.549C>T (p.His183=) http://identifiers.org/clinvar/46528 ^@ NM_033118.3(MYLK2):c.684T>C (p.Ile228=) http://identifiers.org/clinvar/46529 ^@ NM_033118.3(MYLK2):c.783G>A (p.Pro261=) http://identifiers.org/clinvar/46530 ^@ NM_033118.3(MYLK2):c.802C>T (p.Pro268Ser) http://identifiers.org/clinvar/46531 ^@ NM_033337.2(CAV3):c.-1G>A http://identifiers.org/clinvar/46532 ^@ NM_033337.2(CAV3):c.115-13G>C http://identifiers.org/clinvar/46533 ^@ NM_033337.2(CAV3):c.144T>C (p.Pro48=) http://identifiers.org/clinvar/46534 ^@ NM_033337.2(CAV3):c.276C>T (p.Phe92=) http://identifiers.org/clinvar/46535 ^@ NM_033337.2(CAV3):c.306G>A (p.Ala102=) http://identifiers.org/clinvar/46536 ^@ NM_033337.2(CAV3):c.336C>T (p.Ile112=) http://identifiers.org/clinvar/46537 ^@ NM_033337.2(CAV3):c.444G>A (p.Arg148=) http://identifiers.org/clinvar/46538 ^@ NM_033360.3(KRAS):c.483G>A (p.Arg161=) http://identifiers.org/clinvar/46539 ^@ NM_004985.4(KRAS):c.451-5604T>A http://identifiers.org/clinvar/46540 ^@ NM_004985.4(KRAS):c.451-5565G>A http://identifiers.org/clinvar/46541 ^@ NM_004985.4(KRAS):c.451-5560T>A http://identifiers.org/clinvar/46542 ^@ NM_004985.4(KRAS):c.451-5535A>C http://identifiers.org/clinvar/46543 ^@ NM_052836.3(CDH23):c.1523G>T (p.Cys508Phe) http://identifiers.org/clinvar/46544 ^@ NM_057176.2(BSND):c.*14C>T http://identifiers.org/clinvar/46545 ^@ NM_057176.2(BSND):c.127G>A (p.Val43Ile) http://identifiers.org/clinvar/46546 ^@ NM_057176.2(BSND):c.177+11G>A http://identifiers.org/clinvar/46547 ^@ NM_057176.2(BSND):c.177+15G>C http://identifiers.org/clinvar/46548 ^@ NM_057176.2(BSND):c.177+7G>A http://identifiers.org/clinvar/46549 ^@ NM_057176.2(BSND):c.189C>T (p.Val63=) http://identifiers.org/clinvar/46550 ^@ NM_057176.2(BSND):c.63C>T (p.Leu21=) http://identifiers.org/clinvar/46551 ^@ NM_057176.2(BSND):c.851G>A (p.Gly284Asp) http://identifiers.org/clinvar/46552 ^@ NM_057176.2(BSND):c.917T>C (p.Leu306Pro) http://identifiers.org/clinvar/46553 ^@ NM_057176.2(BSND):c.924G>A (p.Pro308=) http://identifiers.org/clinvar/46554 ^@ NM_080680.2(COL11A2):c.1179+10G>A http://identifiers.org/clinvar/46555 ^@ NM_080680.2(COL11A2):c.1360-7A>C http://identifiers.org/clinvar/46556 ^@ NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) http://identifiers.org/clinvar/46557 ^@ NM_080680.2(COL11A2):c.1782C>T (p.Asp594=) http://identifiers.org/clinvar/46558 ^@ NM_080680.2(COL11A2):c.2136A>T (p.Gly712=) http://identifiers.org/clinvar/46559 ^@ NM_080680.2(COL11A2):c.2520G>A (p.Arg840=) http://identifiers.org/clinvar/46560 ^@ NM_080680.2(COL11A2):c.2628+3G>A http://identifiers.org/clinvar/46561 ^@ NM_080680.2(COL11A2):c.2681C>T (p.Pro894Leu) http://identifiers.org/clinvar/46562 ^@ NM_080680.2(COL11A2):c.2700T>C (p.Asp900=) http://identifiers.org/clinvar/46563 ^@ NM_080680.2(COL11A2):c.2899-9delT http://identifiers.org/clinvar/46564 ^@ NM_080680.2(COL11A2):c.3150+15A>C http://identifiers.org/clinvar/46565 ^@ NM_080680.2(COL11A2):c.3174G>A (p.Pro1058=) http://identifiers.org/clinvar/46566 ^@ NM_080680.2(COL11A2):c.3313-11C>T http://identifiers.org/clinvar/46567 ^@ NM_080680.2(COL11A2):c.3946C>A (p.Pro1316Thr) http://identifiers.org/clinvar/46568 ^@ NM_080680.2(COL11A2):c.5165C>T (p.Pro1722Leu) http://identifiers.org/clinvar/46569 ^@ NM_080680.2(COL11A2):c.826G>A (p.Glu276Lys) http://identifiers.org/clinvar/46570 ^@ NM_080680.2(COL11A2):c.877-4T>A http://identifiers.org/clinvar/46571 ^@ NM_133261.2(GIPC3):c.276G>A (p.Leu92=) http://identifiers.org/clinvar/46572 ^@ NM_133261.2(GIPC3):c.593-6C>T http://identifiers.org/clinvar/46573 ^@ NM_001256850.1(TTN):c.102830G>A (p.Cys34277Tyr) http://identifiers.org/clinvar/46574 ^@ NM_133378.4(TTN):c.100062T>C (p.Gly33354=) http://identifiers.org/clinvar/46575 ^@ NM_133378.4(TTN):c.100211G>T (p.Ser33404Ile) http://identifiers.org/clinvar/46576 ^@ TTN:c.1003G>A (p.Val335Met) http://identifiers.org/clinvar/46577 ^@ NM_133378.4(TTN):c.10088G>A (p.Arg3363His) http://identifiers.org/clinvar/46578 ^@ TTN:c.10100G>A (p.Arg3367Gln) http://identifiers.org/clinvar/46579 ^@ NM_133378.4(TTN):c.10114+5G>A http://identifiers.org/clinvar/46580 ^@ NM_001256850.1(TTN):c.10188A>G (p.Glu3396=) http://identifiers.org/clinvar/46581 ^@ NM_133378.4(TTN):c.10242C>T (p.Tyr3414=) http://identifiers.org/clinvar/46582 ^@ NM_133378.4(TTN):c.10256G>A (p.Ser3419Asn) http://identifiers.org/clinvar/46583 ^@ NM_133378.4(TTN):c.10437C>T (p.Ile3479=) http://identifiers.org/clinvar/46584 ^@ NM_133378.4(TTN):c.10457G>A (p.Arg3486Gln) http://identifiers.org/clinvar/46585 ^@ NM_001256850.1(TTN):c.13281C>A (p.Asp4427Glu) http://identifiers.org/clinvar/46586 ^@ NM_133378.4(TTN):c.10793G>A (p.Arg3598Lys) http://identifiers.org/clinvar/46587 ^@ NM_133378.4(TTN):c.1079G>C (p.Arg360Thr) http://identifiers.org/clinvar/46588 ^@ NM_133378.4(TTN):c.10801G>A (p.Asp3601Asn) http://identifiers.org/clinvar/46589 ^@ NM_001256850.1(TTN):c.13584C>T (p.Asp4528=) http://identifiers.org/clinvar/46590 ^@ NM_133378.4(TTN):c.10878C>T (p.Ser3626=) http://identifiers.org/clinvar/46591 ^@ NM_133378.4(TTN):c.10966G>A (p.Ala3656Thr) http://identifiers.org/clinvar/46592 ^@ NM_133378.4(TTN):c.11033G>A (p.Ser3678Asn) http://identifiers.org/clinvar/46593 ^@ NM_001256850.1(TTN):c.13833C>A (p.Leu4611=) http://identifiers.org/clinvar/46594 ^@ NM_133378.4(TTN):c.11138C>G (p.Thr3713Ser) http://identifiers.org/clinvar/46595 ^@ NM_133378.4(TTN):c.11252C>G (p.Pro3751Arg) http://identifiers.org/clinvar/46596 ^@ NM_001256850.1(TTN):c.14047C>T (p.Arg4683Cys) http://identifiers.org/clinvar/46597 ^@ NM_001256850.1(TTN):c.1137A>G (p.Arg379=) http://identifiers.org/clinvar/46598 ^@ NM_133378.4(TTN):c.11446G>A (p.Val3816Ile) http://identifiers.org/clinvar/46599 ^@ NM_133378.4(TTN):c.11446G>C (p.Val3816Leu) http://identifiers.org/clinvar/46600 ^@ NM_133378.4(TTN):c.11637_11639delGTT (p.Leu3879del) http://identifiers.org/clinvar/46601 ^@ NM_133378.4(TTN):c.11764+1G>A http://identifiers.org/clinvar/46602 ^@ NM_001256850.1(TTN):c.14591G>C (p.Gly4864Ala) http://identifiers.org/clinvar/46603 ^@ NM_133378.4(TTN):c.11831A>C (p.Gln3944Pro) http://identifiers.org/clinvar/46604 ^@ NM_133378.4(TTN):c.11852A>G (p.Glu3951Gly) http://identifiers.org/clinvar/46605 ^@ NM_133378.4(TTN):c.1186G>A (p.Ala396Thr) http://identifiers.org/clinvar/46606 ^@ NM_003319.4(TTN):c.13282+4410G>A http://identifiers.org/clinvar/46607 ^@ TTN:c.15792T>C (p.Ile5264=) http://identifiers.org/clinvar/46608 ^@ NM_133378.4(TTN):c.12118G>A (p.Val4040Met) http://identifiers.org/clinvar/46609 ^@ NM_001256850.1(TTN):c.14955C>T (p.Val4985=) http://identifiers.org/clinvar/46610 ^@ NM_133378.4(TTN):c.12246C>T (p.His4082=) http://identifiers.org/clinvar/46611 ^@ NM_001256850.1(TTN):c.15104-9A>C http://identifiers.org/clinvar/46612 ^@ NM_133378.4(TTN):c.12363C>T (p.Asn4121=) http://identifiers.org/clinvar/46613 ^@ NM_133378.4(TTN):c.12381T>C (p.Asn4127=) http://identifiers.org/clinvar/46614 ^@ NM_133378.4(TTN):c.12571G>A (p.Val4191Met) http://identifiers.org/clinvar/46615 ^@ NM_133378.4(TTN):c.12581A>G (p.Lys4194Arg) http://identifiers.org/clinvar/46616 ^@ NM_001256850.1(TTN):c.15471A>G (p.Gln5157=) http://identifiers.org/clinvar/46617 ^@ NM_133378.4(TTN):c.12797A>G (p.Tyr4266Cys) http://identifiers.org/clinvar/46618 ^@ NM_133378.4(TTN):c.12814G>T (p.Asp4272Tyr) http://identifiers.org/clinvar/46619 ^@ NM_001256850.1(TTN):c.15670+7A>T http://identifiers.org/clinvar/46620 ^@ NM_133378.4(TTN):c.13107A>C (p.Glu4369Asp) http://identifiers.org/clinvar/46621 ^@ NM_133378.4(TTN):c.13316A>G (p.Tyr4439Cys) http://identifiers.org/clinvar/46622 ^@ NM_133378.4(TTN):c.13451-7C>T http://identifiers.org/clinvar/46623 ^@ NM_001267550.2(TTN):c.17183-9T>C http://identifiers.org/clinvar/46624 ^@ NM_133378.4(TTN):c.13476C>G (p.Ile4492Met) http://identifiers.org/clinvar/46625 ^@ NM_001256850.1(TTN):c.16273C>T (p.Leu5425Phe) http://identifiers.org/clinvar/46626 ^@ NM_001256850.1(TTN):c.16349G>A (p.Ser5450Asn) http://identifiers.org/clinvar/46627 ^@ NM_133378.4(TTN):c.13654C>G (p.His4552Asp) http://identifiers.org/clinvar/46628 ^@ NM_133378.4(TTN):c.1365G>A (p.Thr455=) http://identifiers.org/clinvar/46629 ^@ NM_133378.4(TTN):c.1398+8C>T http://identifiers.org/clinvar/46630 ^@ NM_001256850.1(TTN):c.1399-3C>T http://identifiers.org/clinvar/46631 ^@ NM_001267550.2(TTN):c.17741-9A>G http://identifiers.org/clinvar/46632 ^@ NM_133378.4(TTN):c.14089A>G (p.Ile4697Val) http://identifiers.org/clinvar/46633 ^@ NM_133378.4(TTN):c.14156A>G (p.Glu4719Gly) http://identifiers.org/clinvar/46634 ^@ NM_001256850.1(TTN):c.16977G>A (p.Leu5659=) http://identifiers.org/clinvar/46635 ^@ NM_001256850.1(TTN):c.17038G>A (p.Ala5680Thr) http://identifiers.org/clinvar/46636 ^@ NM_001267550.2(TTN):c.18173G>A (p.Arg6058His) http://identifiers.org/clinvar/46637 ^@ NM_001256850.1(TTN):c.17412G>A (p.Gln5804=) http://identifiers.org/clinvar/46638 ^@ NM_133378.4(TTN):c.14658A>T (p.Thr4886=) http://identifiers.org/clinvar/46639 ^@ NM_001256850.1(TTN):c.17580G>C (p.Val5860=) http://identifiers.org/clinvar/46640 ^@ NM_001256850.1(TTN):c.17708G>C (p.Cys5903Ser) http://identifiers.org/clinvar/46641 ^@ NM_133378.4(TTN):c.1492G>A (p.Val498Ile) http://identifiers.org/clinvar/46642 ^@ NM_001256850.1(TTN):c.17712A>C (p.Glu5904Asp) http://identifiers.org/clinvar/46643 ^@ NM_133378.4(TTN):c.15013G>A (p.Asp5005Asn) http://identifiers.org/clinvar/46644 ^@ NM_133378.4(TTN):c.15044C>G (p.Thr5015Ser) http://identifiers.org/clinvar/46645 ^@ NM_133378.4(TTN):c.15084T>C (p.Ile5028=) http://identifiers.org/clinvar/46646 ^@ NM_133378.4(TTN):c.15092A>G (p.Asn5031Ser) http://identifiers.org/clinvar/46647 ^@ NM_001256850.1(TTN):c.17881G>A (p.Gly5961Ser) http://identifiers.org/clinvar/46648 ^@ NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) http://identifiers.org/clinvar/46649 ^@ TTN:c.18903C>T (p.Thr6301=) http://identifiers.org/clinvar/46650 ^@ NM_133378.4(TTN):c.151C>T (p.Leu51=) http://identifiers.org/clinvar/46651 ^@ NM_133378.4(TTN):c.15272A>G (p.Asp5091Gly) http://identifiers.org/clinvar/46652 ^@ NM_133378.4(TTN):c.15283T>C (p.Tyr5095His) http://identifiers.org/clinvar/46653 ^@ NM_133378.4(TTN):c.15418C>A (p.Pro5140Thr) http://identifiers.org/clinvar/46654 ^@ NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) http://identifiers.org/clinvar/46655 ^@ TTN:c.19204A>G (p.Met6402Val) http://identifiers.org/clinvar/46656 ^@ NM_133378.4(TTN):c.15569G>A (p.Ser5190Asn) http://identifiers.org/clinvar/46657 ^@ NM_133378.4(TTN):c.15624C>T (p.Ser5208=) http://identifiers.org/clinvar/46658 ^@ NM_133378.4(TTN):c.15651T>C (p.Asn5217=) http://identifiers.org/clinvar/46659 ^@ NM_133378.4(TTN):c.15751G>A (p.Gly5251Ser) http://identifiers.org/clinvar/46660 ^@ NM_133378.4(TTN):c.15983-4A>G http://identifiers.org/clinvar/46661 ^@ NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) http://identifiers.org/clinvar/46662 ^@ NM_133378.4(TTN):c.16086A>G (p.Lys5362=) http://identifiers.org/clinvar/46663 ^@ NM_001256850.1(TTN):c.19012G>A (p.Asp6338Asn) http://identifiers.org/clinvar/46664 ^@ NM_133378.4(TTN):c.16244C>T (p.Thr5415Met) http://identifiers.org/clinvar/46665 ^@ NM_001256850.1(TTN):c.19074C>A (p.Ala6358=) http://identifiers.org/clinvar/46666 ^@ NM_133379.4(TTN):c.*265+18102T>A http://identifiers.org/clinvar/46667 ^@ NM_133378.4(TTN):c.16443A>G (p.Ile5481Met) http://identifiers.org/clinvar/46668 ^@ NM_133378.4(TTN):c.16504G>A (p.Ala5502Thr) http://identifiers.org/clinvar/46669 ^@ NM_133378.4(TTN):c.16528A>G (p.Lys5510Glu) http://identifiers.org/clinvar/46670 ^@ NM_133378.4(TTN):c.16603A>T (p.Ser5535Cys) http://identifiers.org/clinvar/46671 ^@ NM_133378.4(TTN):c.16609G>A (p.Glu5537Lys) http://identifiers.org/clinvar/46672 ^@ NM_133378.4(TTN):c.16870G>A (p.Gly5624Arg) http://identifiers.org/clinvar/46673 ^@ NM_133378.4(TTN):c.17010T>A (p.Phe5670Leu) http://identifiers.org/clinvar/46674 ^@ NM_001256850.1(TTN):c.19821G>A (p.Lys6607=) http://identifiers.org/clinvar/46675 ^@ NM_133378.4(TTN):c.17066G>C (p.Gly5689Ala) http://identifiers.org/clinvar/46676 ^@ NM_133378.4(TTN):c.1709C>T (p.Ala570Val) http://identifiers.org/clinvar/46677 ^@ NM_133378.4(TTN):c.17129C>T (p.Ala5710Val) http://identifiers.org/clinvar/46678 ^@ NM_133378.4(TTN):c.17239A>G (p.Ser5747Gly) http://identifiers.org/clinvar/46679 ^@ NM_133378.4(TTN):c.17287A>T (p.Ile5763Phe) http://identifiers.org/clinvar/46680 ^@ NM_133378.4(TTN):c.17312C>T (p.Ala5771Val) http://identifiers.org/clinvar/46681 ^@ NM_133378.4(TTN):c.17374G>A (p.Asp5792Asn) http://identifiers.org/clinvar/46682 ^@ NM_133378.4(TTN):c.17441G>A (p.Gly5814Asp) http://identifiers.org/clinvar/46683 ^@ NM_133378.4(TTN):c.17632G>A (p.Ala5878Thr) http://identifiers.org/clinvar/46684 ^@ NM_133378.4(TTN):c.17672-4A>G http://identifiers.org/clinvar/46685 ^@ NM_133378.4(TTN):c.1776T>C (p.Asp592=) http://identifiers.org/clinvar/46686 ^@ NM_133378.4(TTN):c.177C>A (p.Ser59Arg) http://identifiers.org/clinvar/46687 ^@ NM_133378.4(TTN):c.178G>T (p.Asp60Tyr) http://identifiers.org/clinvar/46688 ^@ NM_001256850.1(TTN):c.20717G>A (p.Arg6906His) http://identifiers.org/clinvar/46689 ^@ NM_001256850.1(TTN):c.1800+1G>A http://identifiers.org/clinvar/46690 ^@ NM_133378.4(TTN):c.18047C>A (p.Ser6016Tyr) http://identifiers.org/clinvar/46691 ^@ NM_133378.4(TTN):c.1816A>G (p.Arg606Gly) http://identifiers.org/clinvar/46692 ^@ NM_133378.4(TTN):c.1828G>C (p.Val610Leu) http://identifiers.org/clinvar/46693 ^@ NM_133378.4(TTN):c.18342A>G (p.Lys6114=) http://identifiers.org/clinvar/46694 ^@ NM_133378.4(TTN):c.18345A>T (p.Gly6115=) http://identifiers.org/clinvar/46695 ^@ NM_133378.4(TTN):c.18348T>C (p.Asp6116=) http://identifiers.org/clinvar/46696 ^@ NM_001256850.1(TTN):c.21139C>T (p.Arg7047Trp) http://identifiers.org/clinvar/46697 ^@ NM_133378.4(TTN):c.18509-5T>C http://identifiers.org/clinvar/46698 ^@ TTN:c.22384G>C (p.Asp7462His) http://identifiers.org/clinvar/46699 ^@ NM_001256850.1(TTN):c.21435T>A (p.Asp7145Glu) http://identifiers.org/clinvar/46700 ^@ NM_133378.4(TTN):c.18654T>G (p.Asp6218Glu) http://identifiers.org/clinvar/46701 ^@ NM_133378.4(TTN):c.18843T>A (p.Asp6281Glu) http://identifiers.org/clinvar/46702 ^@ NM_133378.4(TTN):c.18879T>C (p.His6293=) http://identifiers.org/clinvar/46703 ^@ NM_133378.4(TTN):c.18902G>A (p.Arg6301Gln) http://identifiers.org/clinvar/46704 ^@ NM_001256850.1(TTN):c.21741A>T (p.Thr7247=) http://identifiers.org/clinvar/46705 ^@ NM_133378.4(TTN):c.19054G>C (p.Asp6352His) http://identifiers.org/clinvar/46706 ^@ NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) http://identifiers.org/clinvar/46707 ^@ NM_001256850.1(TTN):c.22017C>T (p.Asn7339=) http://identifiers.org/clinvar/46708 ^@ NM_133378.4(TTN):c.19269G>A (p.Thr6423=) http://identifiers.org/clinvar/46709 ^@ NM_133378.4(TTN):c.19366+15G>T http://identifiers.org/clinvar/46710 ^@ NM_133378.4(TTN):c.19367-3T>C http://identifiers.org/clinvar/46711 ^@ NM_001256850.1(TTN):c.1938+10G>C http://identifiers.org/clinvar/46712 ^@ NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) http://identifiers.org/clinvar/46713 ^@ NM_133378.4(TTN):c.19445C>T (p.Ser6482Leu) http://identifiers.org/clinvar/46714 ^@ NM_133378.4(TTN):c.19491G>A (p.Gln6497=) http://identifiers.org/clinvar/46715 ^@ NM_133378.4(TTN):c.19500C>G (p.Asn6500Lys) http://identifiers.org/clinvar/46716 ^@ NM_133379.4(TTN):c.*265+24859C>T http://identifiers.org/clinvar/46717 ^@ NM_133378.4(TTN):c.19570G>A (p.Asp6524Asn) http://identifiers.org/clinvar/46718 ^@ NM_001267550.2(TTN):c.23378-10C>A http://identifiers.org/clinvar/46719 ^@ NM_133378.4(TTN):c.19660G>A (p.Val6554Met) http://identifiers.org/clinvar/46720 ^@ NM_133378.4(TTN):c.19805T>A (p.Phe6602Tyr) http://identifiers.org/clinvar/46721 ^@ NM_133378.4(TTN):c.19806C>G (p.Phe6602Leu) http://identifiers.org/clinvar/46722 ^@ NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) http://identifiers.org/clinvar/46723 ^@ NM_133378.4(TTN):c.20375C>T (p.Ser6792Leu) http://identifiers.org/clinvar/46724 ^@ NM_133378.4(TTN):c.20382C>T (p.Asn6794=) http://identifiers.org/clinvar/46725 ^@ NM_001256850.1(TTN):c.23199C>T (p.Ser7733=) http://identifiers.org/clinvar/46726 ^@ TTN:c.24160A>T (p.Ile8054Leu) http://identifiers.org/clinvar/46727 ^@ NM_001256850.1(TTN):c.23244C>T (p.Ser7748=) http://identifiers.org/clinvar/46728 ^@ NM_133378.4(TTN):c.20495-15C>T http://identifiers.org/clinvar/46729 ^@ NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) http://identifiers.org/clinvar/46730 ^@ NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) http://identifiers.org/clinvar/46731 ^@ TTN:c.24431A>C (p.Glu8144Ala) http://identifiers.org/clinvar/46732 ^@ NM_001256850.1(TTN):c.23503G>A (p.Val7835Ile) http://identifiers.org/clinvar/46733 ^@ NM_133379.4(TTN):c.*265+26591C>T http://identifiers.org/clinvar/46734 ^@ NM_133378.4(TTN):c.20784C>T (p.Thr6928=) http://identifiers.org/clinvar/46735 ^@ NM_133378.4(TTN):c.20814T>A (p.Val6938=) http://identifiers.org/clinvar/46736 ^@ NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) http://identifiers.org/clinvar/46737 ^@ NM_133378.4(TTN):c.20877C>T (p.Ser6959=) http://identifiers.org/clinvar/46738 ^@ NM_133378.4(TTN):c.20907A>C (p.Gln6969His) http://identifiers.org/clinvar/46739 ^@ NM_133378.4(TTN):c.20920A>G (p.Ser6974Gly) http://identifiers.org/clinvar/46740 ^@ NM_133378.4(TTN):c.20974G>A (p.Glu6992Lys) http://identifiers.org/clinvar/46741 ^@ NM_133378.4(TTN):c.21088G>A (p.Glu7030Lys) http://identifiers.org/clinvar/46742 ^@ NM_133378.4(TTN):c.21148A>G (p.Arg7050Gly) http://identifiers.org/clinvar/46743 ^@ NM_133378.4(TTN):c.21177G>A (p.Lys7059=) http://identifiers.org/clinvar/46744 ^@ NM_001256850.1(TTN):c.23977T>A (p.Tyr7993Asn) http://identifiers.org/clinvar/46745 ^@ NM_133378.4(TTN):c.21241A>G (p.Lys7081Glu) http://identifiers.org/clinvar/46746 ^@ NM_133378.4(TTN):c.21270T>C (p.Tyr7090=) http://identifiers.org/clinvar/46747 ^@ NM_001267550.2(TTN):c.25008C>T (p.Cys8336=) http://identifiers.org/clinvar/46748 ^@ NM_001256850.1(TTN):c.24090T>C (p.Ser8030=) http://identifiers.org/clinvar/46749 ^@ NM_133378.4(TTN):c.21314C>G (p.Ala7105Gly) http://identifiers.org/clinvar/46750 ^@ TTN:c.25064C>A (p.Ala8355Glu) http://identifiers.org/clinvar/46751 ^@ NM_001256850.1(TTN):c.24114G>A (p.Ala8038=) http://identifiers.org/clinvar/46752 ^@ NM_133378.4(TTN):c.21355G>T (p.Ala7119Ser) http://identifiers.org/clinvar/46753 ^@ NM_001256850.1(TTN):c.24183A>G (p.Ala8061=) http://identifiers.org/clinvar/46754 ^@ NM_133378.4(TTN):c.21491C>T (p.Thr7164Ile) http://identifiers.org/clinvar/46755 ^@ NM_001256850.1(TTN):c.2151C>T (p.Pro717=) http://identifiers.org/clinvar/46756 ^@ TTN:c.25274G>A (p.Ser8425Asn) http://identifiers.org/clinvar/46757 ^@ NM_001256850.1(TTN):c.24400+13C>G http://identifiers.org/clinvar/46758 ^@ TTN:c.25398T>A (p.Asp8466Glu) http://identifiers.org/clinvar/46759 ^@ NM_133378.4(TTN):c.21758G>A (p.Arg7253His) http://identifiers.org/clinvar/46760 ^@ NM_133378.4(TTN):c.21813T>C (p.Val7271=) http://identifiers.org/clinvar/46761 ^@ NM_133378.4(TTN):c.21832G>A (p.Asp7278Asn) http://identifiers.org/clinvar/46762 ^@ NM_133378.4(TTN):c.21887C>T (p.Ser7296Phe) http://identifiers.org/clinvar/46763 ^@ NM_133378.4(TTN):c.21894G>T (p.Gln7298His) http://identifiers.org/clinvar/46764 ^@ NM_133378.4(TTN):c.21972G>A (p.Arg7324=) http://identifiers.org/clinvar/46765 ^@ NM_133378.4(TTN):c.21974A>G (p.Tyr7325Cys) http://identifiers.org/clinvar/46766 ^@ NM_133378.4(TTN):c.21975T>C (p.Tyr7325=) http://identifiers.org/clinvar/46767 ^@ NM_133378.4(TTN):c.21991G>A (p.Gly7331Arg) http://identifiers.org/clinvar/46768 ^@ NM_133378.4(TTN):c.22026C>T (p.Asp7342=) http://identifiers.org/clinvar/46769 ^@ NM_133378.4(TTN):c.22189+10C>T http://identifiers.org/clinvar/46770 ^@ NM_133378.4(TTN):c.22204C>T (p.Arg7402Cys) http://identifiers.org/clinvar/46771 ^@ NM_133378.4(TTN):c.22246G>A (p.Val7416Ile) http://identifiers.org/clinvar/46772 ^@ NM_133378.4(TTN):c.22335C>T (p.Tyr7445=) http://identifiers.org/clinvar/46773 ^@ NM_133378.4(TTN):c.22359A>T (p.Leu7453=) http://identifiers.org/clinvar/46774 ^@ TTN:c.2244G>A (p.Glu748=) http://identifiers.org/clinvar/46775 ^@ NM_133378.4(TTN):c.22513G>A (p.Val7505Ile) http://identifiers.org/clinvar/46776 ^@ NM_133378.4(TTN):c.22557A>G (p.Glu7519=) http://identifiers.org/clinvar/46777 ^@ NM_133378.4(TTN):c.22676A>G (p.Asn7559Ser) http://identifiers.org/clinvar/46778 ^@ NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) http://identifiers.org/clinvar/46779 ^@ TTN:c.2270C>T (p.Pro757Leu) http://identifiers.org/clinvar/46780 ^@ NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) http://identifiers.org/clinvar/46781 ^@ NM_133378.4(TTN):c.22736C>T (p.Thr7579Met) http://identifiers.org/clinvar/46782 ^@ NM_001256850.1(TTN):c.25577C>T (p.Thr8526Met) http://identifiers.org/clinvar/46783 ^@ NM_133378.4(TTN):c.22907T>G (p.Phe7636Cys) http://identifiers.org/clinvar/46784 ^@ NM_133378.4(TTN):c.22923C>T (p.Ser7641=) http://identifiers.org/clinvar/46785 ^@ NM_001256850.1(TTN):c.25721A>G (p.Asn8574Ser) http://identifiers.org/clinvar/46786 ^@ NM_133378.4(TTN):c.22949C>T (p.Pro7650Leu) http://identifiers.org/clinvar/46787 ^@ NM_001256850.1(TTN):c.25731G>A (p.Pro8577=) http://identifiers.org/clinvar/46788 ^@ NM_001267550.2(TTN):c.26762-14_26762-10delTTTGT http://identifiers.org/clinvar/46789 ^@ NM_133378.4(TTN):c.23030-14_23030-10dupTTTGT http://identifiers.org/clinvar/46790 ^@ NM_133378.4(TTN):c.23033G>A (p.Arg7678Gln) http://identifiers.org/clinvar/46791 ^@ NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) http://identifiers.org/clinvar/46792 ^@ NM_133378.4(TTN):c.23259A>G (p.Thr7753=) http://identifiers.org/clinvar/46793 ^@ NM_133378.4(TTN):c.23596+5G>A http://identifiers.org/clinvar/46794 ^@ NM_133378.4(TTN):c.2359A>G (p.Ile787Val) http://identifiers.org/clinvar/46795 ^@ NM_133378.4(TTN):c.23766G>A (p.Ser7922=) http://identifiers.org/clinvar/46796 ^@ NM_133378.4(TTN):c.23861A>G (p.Gln7954Arg) http://identifiers.org/clinvar/46797 ^@ NM_133378.4(TTN):c.2397G>A (p.Thr799=) http://identifiers.org/clinvar/46798 ^@ NM_133378.4(TTN):c.24011C>A (p.Thr8004Asn) http://identifiers.org/clinvar/46799 ^@ NM_133378.4(TTN):c.24061A>C (p.Asn8021His) http://identifiers.org/clinvar/46800 ^@ NM_001267550.2(TTN):c.27846C>T (p.Ser9282=) http://identifiers.org/clinvar/46801 ^@ NM_133378.4(TTN):c.24117G>A (p.Val8039=) http://identifiers.org/clinvar/46802 ^@ NM_133378.4(TTN):c.24154+10A>G http://identifiers.org/clinvar/46803 ^@ NM_133378.4(TTN):c.24182G>A (p.Arg8061Gln) http://identifiers.org/clinvar/46804 ^@ NM_133378.4(TTN):c.24183A>G (p.Arg8061=) http://identifiers.org/clinvar/46805 ^@ NM_133378.4(TTN):c.2432C>T (p.Thr811Ile) http://identifiers.org/clinvar/46806 ^@ NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) http://identifiers.org/clinvar/46807 ^@ NM_133378.4(TTN):c.24407G>T (p.Gly8136Val) http://identifiers.org/clinvar/46808 ^@ TTN:c.28313G>A (p.Arg9438Gln) http://identifiers.org/clinvar/46809 ^@ NM_133378.4(TTN):c.24589G>A (p.Gly8197Arg) http://identifiers.org/clinvar/46810 ^@ NM_133378.4(TTN):c.24731-14G>A http://identifiers.org/clinvar/46811 ^@ NM_133378.4(TTN):c.24874C>A (p.Pro8292Thr) http://identifiers.org/clinvar/46812 ^@ NM_133378.4(TTN):c.24930G>A (p.Arg8310=) http://identifiers.org/clinvar/46813 ^@ NM_133378.4(TTN):c.25022A>C (p.Glu8341Ala) http://identifiers.org/clinvar/46814 ^@ NM_133378.4(TTN):c.25145C>A (p.Ala8382Asp) http://identifiers.org/clinvar/46815 ^@ NM_133378.4(TTN):c.25171A>G (p.Arg8391Gly) http://identifiers.org/clinvar/46816 ^@ NM_001256850.1(TTN):c.28019C>T (p.Ser9340Leu) http://identifiers.org/clinvar/46817 ^@ NM_133378.4(TTN):c.25396G>A (p.Val8466Ile) http://identifiers.org/clinvar/46818 ^@ NM_133378.4(TTN):c.25421T>C (p.Ile8474Thr) http://identifiers.org/clinvar/46819 ^@ NM_133378.4(TTN):c.25446C>A (p.Ile8482=) http://identifiers.org/clinvar/46820 ^@ NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) http://identifiers.org/clinvar/46821 ^@ NM_133378.4(TTN):c.25722_25724delAGA (p.Glu8576del) http://identifiers.org/clinvar/46822 ^@ NM_001256850.1(TTN):c.28654-12T>C http://identifiers.org/clinvar/46823 ^@ NM_133378.4(TTN):c.26031T>C (p.Ile8677=) http://identifiers.org/clinvar/46824 ^@ NM_001256850.1(TTN):c.2605A>T (p.Thr869Ser) http://identifiers.org/clinvar/46825 ^@ NM_133378.4(TTN):c.26067G>A (p.Ser8689=) http://identifiers.org/clinvar/46826 ^@ NM_133378.4(TTN):c.26080A>T (p.Thr8694Ser) http://identifiers.org/clinvar/46827 ^@ NM_133378.4(TTN):c.26206G>A (p.Ala8736Thr) http://identifiers.org/clinvar/46828 ^@ NM_001256850.1(TTN):c.29012-13A>G http://identifiers.org/clinvar/46829 ^@ NM_001256850.1(TTN):c.29230A>C (p.Lys9744Gln) http://identifiers.org/clinvar/46830 ^@ NM_001256850.1(TTN):c.29273-8T>G http://identifiers.org/clinvar/46831 ^@ NM_001256850.1(TTN):c.29280A>G (p.Pro9760=) http://identifiers.org/clinvar/46832 ^@ NM_133378.4(TTN):c.26542C>T (p.His8848Tyr) http://identifiers.org/clinvar/46833 ^@ NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) http://identifiers.org/clinvar/46834 ^@ NM_133378.4(TTN):c.26694C>T (p.Asp8898=) http://identifiers.org/clinvar/46835 ^@ NM_001256850.1(TTN):c.29482+11T>G http://identifiers.org/clinvar/46836 ^@ NM_133378.4(TTN):c.26712G>A (p.Ser8904=) http://identifiers.org/clinvar/46837 ^@ NM_001256850.1(TTN):c.29534C>T (p.Thr9845Met) http://identifiers.org/clinvar/46838 ^@ NM_133378.4(TTN):c.26780-10dupT http://identifiers.org/clinvar/46839 ^@ NM_001256850.1(TTN):c.2686G>A (p.Val896Ile) http://identifiers.org/clinvar/46840 ^@ NM_133378.4(TTN):c.26910A>G (p.Pro8970=) http://identifiers.org/clinvar/46841 ^@ NM_133378.4(TTN):c.26986G>T (p.Val8996Phe) http://identifiers.org/clinvar/46842 ^@ NM_133378.4(TTN):c.26993C>T (p.Ala8998Val) http://identifiers.org/clinvar/46843 ^@ NM_133378.4(TTN):c.27071-15C>T http://identifiers.org/clinvar/46844 ^@ NM_133378.4(TTN):c.27220G>A (p.Glu9074Lys) http://identifiers.org/clinvar/46845 ^@ NM_133378.4(TTN):c.27282T>G (p.Tyr9094Ter) http://identifiers.org/clinvar/46846 ^@ NM_133378.4(TTN):c.2731G>A (p.Val911Ile) http://identifiers.org/clinvar/46847 ^@ NM_133378.4(TTN):c.27523C>T (p.Pro9175Ser) http://identifiers.org/clinvar/46848 ^@ NM_133378.4(TTN):c.27667G>A (p.Val9223Ile) http://identifiers.org/clinvar/46849 ^@ NM_133378.4(TTN):c.27694+1G>C http://identifiers.org/clinvar/46850 ^@ NM_001256850.1(TTN):c.2776-14T>C http://identifiers.org/clinvar/46851 ^@ TTN:c.2781A>C (p.Thr927=) http://identifiers.org/clinvar/46852 ^@ NM_133378.4(TTN):c.27832A>G (p.Ile9278Val) http://identifiers.org/clinvar/46853 ^@ NM_001256850.1(TTN):c.30806C>A (p.Pro10269Gln) http://identifiers.org/clinvar/46854 ^@ NM_133378.4(TTN):c.28030+5_28030+7delGCC http://identifiers.org/clinvar/46855 ^@ NM_001256850.1(TTN):c.30812-1G>A http://identifiers.org/clinvar/46856 ^@ NM_133378.4(TTN):c.28059T>G (p.Pro9353=) http://identifiers.org/clinvar/46857 ^@ NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) http://identifiers.org/clinvar/46858 ^@ NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) http://identifiers.org/clinvar/46859 ^@ NM_133378.4(TTN):c.28132G>A (p.Gly9378Arg) http://identifiers.org/clinvar/46860 ^@ NM_001256850.1(TTN):c.31235C>T (p.Thr10412Met) http://identifiers.org/clinvar/46861 ^@ NM_001256850.1(TTN):c.31246+11G>A http://identifiers.org/clinvar/46862 ^@ NM_001256850.1(TTN):c.31247-10T>C http://identifiers.org/clinvar/46863 ^@ TTN:c.32254G>A (p.Val10752Ile) http://identifiers.org/clinvar/46864 ^@ NM_133378.4(TTN):c.28618C>G (p.Leu9540Val) http://identifiers.org/clinvar/46865 ^@ NM_001256850.1(TTN):c.31416G>A (p.Lys10472=) http://identifiers.org/clinvar/46866 ^@ NM_001256850.1(TTN):c.31442-12A>G http://identifiers.org/clinvar/46867 ^@ NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) http://identifiers.org/clinvar/46868 ^@ NM_133378.4(TTN):c.28748C>T (p.Ala9583Val) http://identifiers.org/clinvar/46869 ^@ NM_001256850.1(TTN):c.31604-12G>T http://identifiers.org/clinvar/46870 ^@ NM_001256850.1(TTN):c.31604-6T>C http://identifiers.org/clinvar/46871 ^@ NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) http://identifiers.org/clinvar/46872 ^@ NM_133378.4(TTN):c.2883C>T (p.Thr961=) http://identifiers.org/clinvar/46873 ^@ NM_133378.4(TTN):c.28892C>T (p.Pro9631Leu) http://identifiers.org/clinvar/46874 ^@ NM_133378.4(TTN):c.28916G>A (p.Arg9639Lys) http://identifiers.org/clinvar/46875 ^@ NM_133378.4(TTN):c.28971G>A (p.Glu9657=) http://identifiers.org/clinvar/46876 ^@ NM_133378.4(TTN):c.28990+9G>A http://identifiers.org/clinvar/46877 ^@ NM_001256850.1(TTN):c.31792G>C (p.Ala10598Pro) http://identifiers.org/clinvar/46878 ^@ NM_001256850.1(TTN):c.31799C>T (p.Pro10600Leu) http://identifiers.org/clinvar/46879 ^@ NM_133378.4(TTN):c.29071A>G (p.Lys9691Glu) http://identifiers.org/clinvar/46880 ^@ NM_001267550.2(TTN):c.32807-10T>A http://identifiers.org/clinvar/46881 ^@ NM_133378.4(TTN):c.29156-3C>A http://identifiers.org/clinvar/46882 ^@ NM_133378.4(TTN):c.29321G>A (p.Arg9774Gln) http://identifiers.org/clinvar/46883 ^@ NM_001256850.1(TTN):c.32108A>G (p.Tyr10703Cys) http://identifiers.org/clinvar/46884 ^@ NM_133378.4(TTN):c.29331A>G (p.Glu9777=) http://identifiers.org/clinvar/46885 ^@ TTN:c.2949C>T (p.Ile983=) http://identifiers.org/clinvar/46886 ^@ NM_133378.4(TTN):c.29555G>A (p.Arg9852His) http://identifiers.org/clinvar/46887 ^@ NM_001267550.2(TTN):c.33340+10T>C http://identifiers.org/clinvar/46888 ^@ NM_133378.4(TTN):c.29684G>C (p.Arg9895Thr) http://identifiers.org/clinvar/46889 ^@ NM_001267550.2(TTN):c.33513_33515dupAGA (p.Glu11172_Tyr11173insGlu) http://identifiers.org/clinvar/46890 ^@ NM_133379.4(TTN):c.*265+65971G>A http://identifiers.org/clinvar/46891 ^@ NM_001256850.1(TTN):c.32791+11A>G http://identifiers.org/clinvar/46892 ^@ NM_001256850.1(TTN):c.3002T>G (p.Met1001Arg) http://identifiers.org/clinvar/46893 ^@ NM_001256850.1(TTN):c.32876-8C>T http://identifiers.org/clinvar/46894 ^@ NM_133378.4(TTN):c.30102G>A (p.Glu10034=) http://identifiers.org/clinvar/46895 ^@ NM_001256850.1(TTN):c.32905G>A (p.Glu10969Lys) http://identifiers.org/clinvar/46896 ^@ NM_133378.4(TTN):c.30179-7T>C http://identifiers.org/clinvar/46897 ^@ NM_133378.4(TTN):c.30306T>G (p.Pro10102=) http://identifiers.org/clinvar/46898 ^@ NM_133378.4(TTN):c.3031G>A (p.Gly1011Arg) http://identifiers.org/clinvar/46899 ^@ NM_133378.4(TTN):c.3034C>T (p.Arg1012Ter) http://identifiers.org/clinvar/46900 ^@ NM_133378.4(TTN):c.30387_30407dup21 (p.Glu10146_Ile10147insValLeuProGluGluGluGlu) http://identifiers.org/clinvar/46901 ^@ NM_133378.4(TTN):c.30515_30517delAAG (p.Glu10172del) http://identifiers.org/clinvar/46902 ^@ NM_133379.4(TTN):c.*265+69411C>A http://identifiers.org/clinvar/46903 ^@ NM_133378.4(TTN):c.30634+14G>A http://identifiers.org/clinvar/46904 ^@ NM_133378.4(TTN):c.30663A>C (p.Glu10221Asp) http://identifiers.org/clinvar/46905 ^@ NM_001256850.1(TTN):c.33586+9G>T http://identifiers.org/clinvar/46906 ^@ NM_001256850.1(TTN):c.33647A>G (p.Glu11216Gly) http://identifiers.org/clinvar/46907 ^@ TTN:c.3087T>C (p.Tyr1029=) http://identifiers.org/clinvar/46908 ^@ NM_133378.4(TTN):c.30952+7C>T http://identifiers.org/clinvar/46909 ^@ NM_133378.4(TTN):c.30961G>A (p.Val10321Ile) http://identifiers.org/clinvar/46910 ^@ NM_133378.4(TTN):c.3100G>A (p.Val1034Met) http://identifiers.org/clinvar/46911 ^@ NM_133378.4(TTN):c.31067G>A (p.Arg10356His) http://identifiers.org/clinvar/46912 ^@ NM_001256850.1(TTN):c.33915G>A (p.Pro11305=) http://identifiers.org/clinvar/46913 ^@ NM_133378.4(TTN):c.3133G>A (p.Val1045Met) http://identifiers.org/clinvar/46914 ^@ NM_133378.4(TTN):c.31361A>C (p.Lys10454Thr) http://identifiers.org/clinvar/46915 ^@ NM_133378.4(TTN):c.31720C>T (p.Pro10574Ser) http://identifiers.org/clinvar/46916 ^@ NM_001267550.2(TTN):c.39045G>C (p.Val13015=) http://identifiers.org/clinvar/46917 ^@ NM_133378.4(TTN):c.31780G>A (p.Val10594Met) http://identifiers.org/clinvar/46918 ^@ NM_001256850.1(TTN):c.34564C>A (p.Pro11522Thr) http://identifiers.org/clinvar/46919 ^@ NM_001256850.1(TTN):c.34606+10A>C http://identifiers.org/clinvar/46920 ^@ NM_001256850.1(TTN):c.34607-14T>C http://identifiers.org/clinvar/46921 ^@ NM_133378.4(TTN):c.31861A>G (p.Lys10621Glu) http://identifiers.org/clinvar/46922 ^@ NM_133378.4(TTN):c.31881T>A (p.Pro10627=) http://identifiers.org/clinvar/46923 ^@ NM_001256850.1(TTN):c.34690+6C>T http://identifiers.org/clinvar/46924 ^@ NM_001256850.1(TTN):c.34780G>A (p.Glu11594Lys) http://identifiers.org/clinvar/46925 ^@ NM_133378.4(TTN):c.32117C>T (p.Ala10706Val) http://identifiers.org/clinvar/46926 ^@ NM_133378.4(TTN):c.32175C>T (p.Pro10725=) http://identifiers.org/clinvar/46927 ^@ NM_133378.4(TTN):c.32202G>T (p.Val10734=) http://identifiers.org/clinvar/46928 ^@ NM_133378.4(TTN):c.32314C>T (p.Pro10772Ser) http://identifiers.org/clinvar/46929 ^@ NM_133378.4(TTN):c.32402C>G (p.Pro10801Arg) http://identifiers.org/clinvar/46930 ^@ NM_001256850.1(TTN):c.35188+6C>T http://identifiers.org/clinvar/46931 ^@ NM_133378.4(TTN):c.3241G>A (p.Ala1081Thr) http://identifiers.org/clinvar/46932 ^@ NM_133378.4(TTN):c.32447_32464del18 (p.Ile10816_Glu10821del) http://identifiers.org/clinvar/46933 ^@ NM_133378.4(TTN):c.32611G>T (p.Val10871Phe) http://identifiers.org/clinvar/46934 ^@ NM_133378.4(TTN):c.32704+7_32704+10dupAATG http://identifiers.org/clinvar/46935 ^@ NM_133378.4(TTN):c.32794G>T (p.Val10932Phe) http://identifiers.org/clinvar/46936 ^@ NM_001256850.1(TTN):c.35664A>G (p.Glu11888=) http://identifiers.org/clinvar/46937 ^@ NM_001256850.1(TTN):c.35711-15_35711-11delAATCT http://identifiers.org/clinvar/46938 ^@ NM_133378.4(TTN):c.3295G>A (p.Val1099Met) http://identifiers.org/clinvar/46939 ^@ NM_133378.4(TTN):c.33173-14T>C http://identifiers.org/clinvar/46940 ^@ NM_133378.4(TTN):c.3318C>T (p.Gly1106=) http://identifiers.org/clinvar/46941 ^@ NM_133378.4(TTN):c.33252A>G (p.Ile11084Met) http://identifiers.org/clinvar/46942 ^@ NM_001256850.1(TTN):c.36087T>C (p.Asp12029=) http://identifiers.org/clinvar/46943 ^@ NM_133379.4(TTN):c.*265+108696C>T http://identifiers.org/clinvar/46944 ^@ NM_133378.4(TTN):c.33475C>G (p.Arg11159Gly) http://identifiers.org/clinvar/46945 ^@ NM_133378.4(TTN):c.33786C>T (p.Val11262=) http://identifiers.org/clinvar/46946 ^@ NM_133378.4(TTN):c.33804T>C (p.Ala11268=) http://identifiers.org/clinvar/46947 ^@ NM_001256850.1(TTN):c.36687delA (p.Val12230Serfs) http://identifiers.org/clinvar/46948 ^@ NM_133378.4(TTN):c.33G>A (p.Pro11=) http://identifiers.org/clinvar/46949 ^@ NM_133378.4(TTN):c.3409G>C (p.Gly1137Arg) http://identifiers.org/clinvar/46950 ^@ NM_001256850.1(TTN):c.37008T>C (p.Tyr12336=) http://identifiers.org/clinvar/46951 ^@ NM_133378.4(TTN):c.34320+6T>C http://identifiers.org/clinvar/46952 ^@ NM_133378.4(TTN):c.34367A>G (p.His11456Arg) http://identifiers.org/clinvar/46953 ^@ NM_133379.4(TTN):c.*265+110695C>T http://identifiers.org/clinvar/46954 ^@ NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) http://identifiers.org/clinvar/46955 ^@ NM_133378.4(TTN):c.34625T>C (p.Val11542Ala) http://identifiers.org/clinvar/46956 ^@ NM_003319.4(TTN):c.15314T>C (p.Met5105Thr) http://identifiers.org/clinvar/46957 ^@ NM_001256850.1(TTN):c.3469G>A (p.Val1157Ile) http://identifiers.org/clinvar/46958 ^@ NM_133378.4(TTN):c.34717A>G (p.Arg11573Gly) http://identifiers.org/clinvar/46959 ^@ NM_133378.4(TTN):c.35079A>G (p.Lys11693=) http://identifiers.org/clinvar/46960 ^@ NM_133378.4(TTN):c.35125A>T (p.Ile11709Phe) http://identifiers.org/clinvar/46961 ^@ NM_133378.4(TTN):c.3523+11C>G http://identifiers.org/clinvar/46962 ^@ NM_133378.4(TTN):c.3523G>A (p.Ala1175Thr) http://identifiers.org/clinvar/46963 ^@ NM_133378.4(TTN):c.35254A>G (p.Lys11752Glu) http://identifiers.org/clinvar/46964 ^@ NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) http://identifiers.org/clinvar/46965 ^@ NM_133378.4(TTN):c.35396T>C (p.Ile11799Thr) http://identifiers.org/clinvar/46966 ^@ NM_133378.4(TTN):c.35540G>A (p.Ser11847Asn) http://identifiers.org/clinvar/46967 ^@ NM_133378.4(TTN):c.35713G>C (p.Asp11905His) http://identifiers.org/clinvar/46968 ^@ NM_133378.4(TTN):c.35784G>A (p.Arg11928=) http://identifiers.org/clinvar/46969 ^@ NM_001256850.1(TTN):c.38654G>A (p.Arg12885Gln) http://identifiers.org/clinvar/46970 ^@ NM_133378.4(TTN):c.35892T>C (p.Asn11964=) http://identifiers.org/clinvar/46971 ^@ NM_133378.4(TTN):c.35899C>T (p.Arg11967Cys) http://identifiers.org/clinvar/46972 ^@ NM_133378.4(TTN):c.35986T>A (p.Ser11996Thr) http://identifiers.org/clinvar/46973 ^@ NM_133378.4(TTN):c.3601A>G (p.Lys1201Glu) http://identifiers.org/clinvar/46974 ^@ NM_133378.4(TTN):c.36057T>C (p.Tyr12019=) http://identifiers.org/clinvar/46975 ^@ NM_133378.4(TTN):c.36336C>A (p.Pro12112=) http://identifiers.org/clinvar/46976 ^@ NM_133378.4(TTN):c.36660delC (p.Tyr12221Thrfs) http://identifiers.org/clinvar/46977 ^@ NM_133378.4(TTN):c.36662A>G (p.Tyr12221Cys) http://identifiers.org/clinvar/46978 ^@ TTN:c.3668C>T (p.Ala1223Val) http://identifiers.org/clinvar/46979 ^@ NM_133378.4(TTN):c.36888C>T (p.Val12296=) http://identifiers.org/clinvar/46980 ^@ NM_133378.4(TTN):c.37379-10A>G http://identifiers.org/clinvar/46981 ^@ NM_001256850.1(TTN):c.40251C>T (p.Gly13417=) http://identifiers.org/clinvar/46982 ^@ NM_133378.4(TTN):c.37471G>A (p.Ala12491Thr) http://identifiers.org/clinvar/46983 ^@ NM_133378.4(TTN):c.37502A>T (p.Glu12501Val) http://identifiers.org/clinvar/46984 ^@ NM_133378.4(TTN):c.37564C>A (p.Gln12522Lys) http://identifiers.org/clinvar/46985 ^@ TTN:c.3759A>G (p.Arg1253=) http://identifiers.org/clinvar/46986 ^@ NM_133378.4(TTN):c.37603C>T (p.Arg12535Ter) http://identifiers.org/clinvar/46987 ^@ NM_133378.4(TTN):c.37624G>A (p.Asp12542Asn) http://identifiers.org/clinvar/46988 ^@ NM_133378.4(TTN):c.37704G>T (p.Lys12568Asn) http://identifiers.org/clinvar/46989 ^@ NM_001256850.1(TTN):c.40576G>A (p.Val13526Ile) http://identifiers.org/clinvar/46990 ^@ NM_133378.4(TTN):c.37822C>T (p.Leu12608=) http://identifiers.org/clinvar/46991 ^@ NM_133378.4(TTN):c.37895C>G (p.Ala12632Gly) http://identifiers.org/clinvar/46992 ^@ NM_133378.4(TTN):c.37902G>A (p.Leu12634=) http://identifiers.org/clinvar/46993 ^@ NM_133378.4(TTN):c.38034T>C (p.Ala12678=) http://identifiers.org/clinvar/46994 ^@ NM_133378.4(TTN):c.38191G>A (p.Glu12731Lys) http://identifiers.org/clinvar/46995 ^@ NM_133378.4(TTN):c.38361G>C (p.Lys12787Asn) http://identifiers.org/clinvar/46996 ^@ NM_133378.4(TTN):c.38817_38897del81 (p.Lys12939_His12966delinsAsn) http://identifiers.org/clinvar/46997 ^@ NM_133378.4(TTN):c.38365_38366delAT (p.Met12789Valfs) http://identifiers.org/clinvar/46998 ^@ NM_133378.4(TTN):c.38456T>C (p.Ile12819Thr) http://identifiers.org/clinvar/46999 ^@ NM_001256850.1(TTN):c.41463C>T (p.Cys13821=) http://identifiers.org/clinvar/47000 ^@ NM_001256850.1(TTN):c.41464G>A (p.Gly13822Arg) http://identifiers.org/clinvar/47001 ^@ NM_133378.4(TTN):c.3884C>T (p.Ser1295Leu) http://identifiers.org/clinvar/47002 ^@ NM_133378.4(TTN):c.38989G>T (p.Ala12997Ser) http://identifiers.org/clinvar/47003 ^@ NM_133378.4(TTN):c.39069T>A (p.Tyr13023Ter) http://identifiers.org/clinvar/47004 ^@ NM_133378.4(TTN):c.39078C>A (p.Tyr13026Ter) http://identifiers.org/clinvar/47005 ^@ NM_133378.4(TTN):c.39119T>C (p.Leu13040Ser) http://identifiers.org/clinvar/47006 ^@ NM_133378.4(TTN):c.39176C>T (p.Ala13059Val) http://identifiers.org/clinvar/47007 ^@ NM_133378.4(TTN):c.39487C>T (p.Arg13163Cys) http://identifiers.org/clinvar/47008 ^@ NM_133378.4(TTN):c.39544G>A (p.Val13182Ile) http://identifiers.org/clinvar/47009 ^@ NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) http://identifiers.org/clinvar/47010 ^@ NM_133378.4(TTN):c.39611G>A (p.Arg13204Gln) http://identifiers.org/clinvar/47011 ^@ NM_133378.4(TTN):c.39696G>A (p.Lys13232=) http://identifiers.org/clinvar/47012 ^@ NM_133378.4(TTN):c.39802C>T (p.Gln13268Ter) http://identifiers.org/clinvar/47013 ^@ NM_133378.4(TTN):c.39841C>A (p.Pro13281Thr) http://identifiers.org/clinvar/47014 ^@ TTN:c.3993C>T (p.Ile1331=) http://identifiers.org/clinvar/47015 ^@ NM_133378.4(TTN):c.40019G>A (p.Arg13340His) http://identifiers.org/clinvar/47016 ^@ NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) http://identifiers.org/clinvar/47017 ^@ NM_001256850.1(TTN):c.42964A>G (p.Met14322Val) http://identifiers.org/clinvar/47018 ^@ NM_133378.4(TTN):c.4034G>A (p.Gly1345Asp) http://identifiers.org/clinvar/47019 ^@ NM_133378.4(TTN):c.4042A>G (p.Ser1348Gly) http://identifiers.org/clinvar/47020 ^@ NM_133378.4(TTN):c.40566C>T (p.Tyr13522=) http://identifiers.org/clinvar/47021 ^@ NM_133378.4(TTN):c.40691G>A (p.Arg13564His) http://identifiers.org/clinvar/47022 ^@ NM_001256850.1(TTN):c.43537+8C>T http://identifiers.org/clinvar/47023 ^@ NM_133378.4(TTN):c.40934+5G>T http://identifiers.org/clinvar/47024 ^@ NM_133378.4(TTN):c.41023C>T (p.Pro13675Ser) http://identifiers.org/clinvar/47025 ^@ NM_133378.4(TTN):c.41249T>C (p.Ile13750Thr) http://identifiers.org/clinvar/47026 ^@ NM_133378.4(TTN):c.41292G>A (p.Glu13764=) http://identifiers.org/clinvar/47027 ^@ NM_133378.4(TTN):c.41485G>A (p.Val13829Met) http://identifiers.org/clinvar/47028 ^@ NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) http://identifiers.org/clinvar/47029 ^@ NM_133378.4(TTN):c.41675C>G (p.Ser13892Cys) http://identifiers.org/clinvar/47030 ^@ NM_001256850.1(TTN):c.44490G>T (p.Trp14830Cys) http://identifiers.org/clinvar/47031 ^@ NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) http://identifiers.org/clinvar/47032 ^@ NM_133378.4(TTN):c.4177A>G (p.Ile1393Val) http://identifiers.org/clinvar/47033 ^@ NM_133378.4(TTN):c.41828+8C>T http://identifiers.org/clinvar/47034 ^@ NM_001256850.1(TTN):c.4199G>C (p.Ser1400Thr) http://identifiers.org/clinvar/47035 ^@ NM_133378.4(TTN):c.42027T>C (p.His14009=) http://identifiers.org/clinvar/47036 ^@ NM_133378.4(TTN):c.42215G>C (p.Ser14072Thr) http://identifiers.org/clinvar/47037 ^@ NM_133378.4(TTN):c.42281A>C (p.Asn14094Thr) http://identifiers.org/clinvar/47038 ^@ NM_001256850.1(TTN):c.45075T>C (p.Asn15025=) http://identifiers.org/clinvar/47039 ^@ NM_133378.4(TTN):c.42372C>T (p.Asp14124=) http://identifiers.org/clinvar/47040 ^@ TTN:c.4246C>T (p.Arg1416Cys) http://identifiers.org/clinvar/47041 ^@ NM_133378.4(TTN):c.42651A>G (p.Arg14217=) http://identifiers.org/clinvar/47042 ^@ NM_001256850.1(TTN):c.45440T>C (p.Ile15147Thr) http://identifiers.org/clinvar/47043 ^@ NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) http://identifiers.org/clinvar/47044 ^@ NM_001256850.1(TTN):c.426C>T (p.Ala142=) http://identifiers.org/clinvar/47045 ^@ NM_133378.4(TTN):c.42748G>A (p.Glu14250Lys) http://identifiers.org/clinvar/47046 ^@ NM_133378.4(TTN):c.4322G>C (p.Arg1441Pro) http://identifiers.org/clinvar/47047 ^@ NM_133378.4(TTN):c.42914G>A (p.Trp14305Ter) http://identifiers.org/clinvar/47048 ^@ NM_133378.4(TTN):c.42943C>T (p.Pro14315Ser) http://identifiers.org/clinvar/47049 ^@ NM_133378.4(TTN):c.4328T>C (p.Leu1443Pro) http://identifiers.org/clinvar/47050 ^@ TTN:c.4347A>G (p.Ser1449=) http://identifiers.org/clinvar/47051 ^@ NM_001256850.1(TTN):c.4359A>T (p.Arg1453Ser) http://identifiers.org/clinvar/47052 ^@ NM_133378.4(TTN):c.43675G>T (p.Val14559Phe) http://identifiers.org/clinvar/47053 ^@ NM_133378.4(TTN):c.43778C>T (p.Ala14593Val) http://identifiers.org/clinvar/47054 ^@ NM_133378.4(TTN):c.43779G>A (p.Ala14593=) http://identifiers.org/clinvar/47055 ^@ NM_133378.4(TTN):c.43843A>T (p.Ile14615Phe) http://identifiers.org/clinvar/47056 ^@ NM_133378.4(TTN):c.43980G>A (p.Ala14660=) http://identifiers.org/clinvar/47057 ^@ NM_001256850.1(TTN):c.46886G>T (p.Ser15629Ile) http://identifiers.org/clinvar/47058 ^@ NM_133378.4(TTN):c.44357A>T (p.Asp14786Val) http://identifiers.org/clinvar/47059 ^@ NM_001256850.1(TTN):c.47187G>A (p.Pro15729=) http://identifiers.org/clinvar/47060 ^@ NM_133378.4(TTN):c.44440A>G (p.Arg14814Gly) http://identifiers.org/clinvar/47061 ^@ NM_133378.4(TTN):c.44526C>T (p.Asp14842=) http://identifiers.org/clinvar/47062 ^@ NM_133378.4(TTN):c.44539G>A (p.Asp14847Asn) http://identifiers.org/clinvar/47063 ^@ NM_133378.4(TTN):c.4480+6C>T http://identifiers.org/clinvar/47064 ^@ NM_133378.4(TTN):c.44853C>T (p.Val14951=) http://identifiers.org/clinvar/47065 ^@ NM_133378.4(TTN):c.45117T>C (p.Asp15039=) http://identifiers.org/clinvar/47066 ^@ NM_133378.4(TTN):c.45148C>T (p.Arg15050Cys) http://identifiers.org/clinvar/47067 ^@ NM_133378.4(TTN):c.45156A>G (p.Thr15052=) http://identifiers.org/clinvar/47068 ^@ NM_133378.4(TTN):c.45213T>C (p.Asp15071=) http://identifiers.org/clinvar/47069 ^@ NM_001256850.1(TTN):c.48079+10G>A http://identifiers.org/clinvar/47070 ^@ NM_133378.4(TTN):c.45392G>A (p.Arg15131His) http://identifiers.org/clinvar/47071 ^@ NM_133378.4(TTN):c.45392G>C (p.Arg15131Pro) http://identifiers.org/clinvar/47072 ^@ NM_133378.4(TTN):c.45419A>T (p.Lys15140Ile) http://identifiers.org/clinvar/47073 ^@ NM_133378.4(TTN):c.45445C>T (p.Arg15149Cys) http://identifiers.org/clinvar/47074 ^@ NM_133378.4(TTN):c.45488T>C (p.Ile15163Thr) http://identifiers.org/clinvar/47075 ^@ NM_001256850.1(TTN):c.48337T>C (p.Phe16113Leu) http://identifiers.org/clinvar/47076 ^@ NM_001256850.1(TTN):c.48669A>G (p.Thr16223=) http://identifiers.org/clinvar/47077 ^@ NM_133378.4(TTN):c.46211G>A (p.Arg15404Gln) http://identifiers.org/clinvar/47078 ^@ NM_133378.4(TTN):c.4630A>G (p.Ile1544Val) http://identifiers.org/clinvar/47079 ^@ NM_133378.4(TTN):c.46353A>C (p.Glu15451Asp) http://identifiers.org/clinvar/47080 ^@ NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly) http://identifiers.org/clinvar/47081 ^@ NM_001256850.1(TTN):c.49182G>A (p.Ala16394=) http://identifiers.org/clinvar/47082 ^@ NM_133378.4(TTN):c.46426A>G (p.Thr15476Ala) http://identifiers.org/clinvar/47083 ^@ NM_001256850.1(TTN):c.49225C>T (p.Arg16409Cys) http://identifiers.org/clinvar/47084 ^@ NM_133378.4(TTN):c.46463G>A (p.Arg15488Gln) http://identifiers.org/clinvar/47085 ^@ NM_133378.4(TTN):c.46484A>G (p.Tyr15495Cys) http://identifiers.org/clinvar/47086 ^@ NM_001256850.1(TTN):c.49266T>C (p.Tyr16422=) http://identifiers.org/clinvar/47087 ^@ NM_133378.4(TTN):c.46497C>T (p.Ser15499=) http://identifiers.org/clinvar/47088 ^@ NM_133378.4(TTN):c.46504A>C (p.Arg15502=) http://identifiers.org/clinvar/47089 ^@ NM_133378.4(TTN):c.46620T>C (p.Ser15540=) http://identifiers.org/clinvar/47090 ^@ NM_133378.4(TTN):c.46677+6C>G http://identifiers.org/clinvar/47091 ^@ NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) http://identifiers.org/clinvar/47092 ^@ NM_133378.4(TTN):c.46932T>G (p.Tyr15644Ter) http://identifiers.org/clinvar/47093 ^@ NM_133378.4(TTN):c.46981G>A (p.Val15661Met) http://identifiers.org/clinvar/47094 ^@ NM_133378.4(TTN):c.47089G>A (p.Val15697Ile) http://identifiers.org/clinvar/47095 ^@ NM_133378.4(TTN):c.4709G>C (p.Gly1570Ala) http://identifiers.org/clinvar/47096 ^@ NM_001256850.1(TTN):c.49888+15G>A http://identifiers.org/clinvar/47097 ^@ NM_133378.4(TTN):c.47114C>T (p.Pro15705Leu) http://identifiers.org/clinvar/47098 ^@ TTN:c.4715G>A (p.Arg1572Gln) http://identifiers.org/clinvar/47099 ^@ NM_133378.4(TTN):c.47325G>A (p.Arg15775=) http://identifiers.org/clinvar/47100 ^@ NM_133378.4(TTN):c.4739C>T (p.Thr1580Met) http://identifiers.org/clinvar/47101 ^@ NM_001256850.1(TTN):c.50216T>C (p.Ile16739Thr) http://identifiers.org/clinvar/47102 ^@ NM_001256850.1(TTN):c.50283C>A (p.Ile16761=) http://identifiers.org/clinvar/47103 ^@ NM_133378.4(TTN):c.47565G>C (p.Lys15855Asn) http://identifiers.org/clinvar/47104 ^@ NM_001256850.1(TTN):c.50417C>T (p.Pro16806Leu) http://identifiers.org/clinvar/47105 ^@ NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) http://identifiers.org/clinvar/47106 ^@ NM_133378.4(TTN):c.47849A>G (p.Lys15950Arg) http://identifiers.org/clinvar/47107 ^@ NM_133378.4(TTN):c.47988T>A (p.Pro15996=) http://identifiers.org/clinvar/47108 ^@ NM_001256850.1(TTN):c.50822C>T (p.Pro16941Leu) http://identifiers.org/clinvar/47109 ^@ NM_001256850.1(TTN):c.51050G>A (p.Arg17017Gln) http://identifiers.org/clinvar/47110 ^@ NM_133378.4(TTN):c.48397A>G (p.Asn16133Asp) http://identifiers.org/clinvar/47111 ^@ NM_133378.4(TTN):c.48825G>A (p.Thr16275=) http://identifiers.org/clinvar/47112 ^@ NM_133378.4(TTN):c.48853C>T (p.His16285Tyr) http://identifiers.org/clinvar/47113 ^@ NM_133378.4(TTN):c.48943+1G>A http://identifiers.org/clinvar/47114 ^@ NM_133378.4(TTN):c.48975T>C (p.Val16325=) http://identifiers.org/clinvar/47115 ^@ NM_133378.4(TTN):c.49028dupA (p.Asp16343Glufs) http://identifiers.org/clinvar/47116 ^@ NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) http://identifiers.org/clinvar/47117 ^@ NM_001256850.1(TTN):c.52019C>T (p.Ala17340Val) http://identifiers.org/clinvar/47118 ^@ NM_133378.4(TTN):c.49508T>C (p.Ile16503Thr) http://identifiers.org/clinvar/47119 ^@ NM_133378.4(TTN):c.49511delG (p.Gly16504Glufs) http://identifiers.org/clinvar/47120 ^@ NM_133378.4(TTN):c.49611T>C (p.His16537=) http://identifiers.org/clinvar/47121 ^@ NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) http://identifiers.org/clinvar/47122 ^@ NM_133378.4(TTN):c.49711A>C (p.Ile16571Leu) http://identifiers.org/clinvar/47123 ^@ NM_001256850.1(TTN):c.52539G>A (p.Gln17513=) http://identifiers.org/clinvar/47124 ^@ TTN:c.57464G>A (p.Arg19155Lys) http://identifiers.org/clinvar/47125 ^@ NM_133378.4(TTN):c.49774G>A (p.Val16592Ile) http://identifiers.org/clinvar/47126 ^@ NM_133378.4(TTN):c.49882C>G (p.Leu16628Val) http://identifiers.org/clinvar/47127 ^@ NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) http://identifiers.org/clinvar/47128 ^@ NM_001256850.1(TTN):c.52760G>A (p.Arg17587His) http://identifiers.org/clinvar/47129 ^@ NM_133378.4(TTN):c.50143+1G>A http://identifiers.org/clinvar/47130 ^@ NM_133378.4(TTN):c.50370T>C (p.Arg16790=) http://identifiers.org/clinvar/47131 ^@ NM_133378.4(TTN):c.50291delA (p.His16764Profs) http://identifiers.org/clinvar/47132 ^@ NM_133378.4(TTN):c.50348_50350delAAG (p.Glu16783del) http://identifiers.org/clinvar/47133 ^@ NM_001256850.1(TTN):c.53199C>G (p.Thr17733=) http://identifiers.org/clinvar/47134 ^@ NM_133378.4(TTN):c.50446+10T>C http://identifiers.org/clinvar/47135 ^@ NM_001256850.1(TTN):c.53503G>A (p.Val17835Ile) http://identifiers.org/clinvar/47136 ^@ NM_133378.4(TTN):c.50732G>A (p.Arg16911His) http://identifiers.org/clinvar/47137 ^@ NM_001256850.1(TTN):c.53713G>C (p.Glu17905Gln) http://identifiers.org/clinvar/47138 ^@ NM_133378.4(TTN):c.50980A>G (p.Ile16994Val) http://identifiers.org/clinvar/47139 ^@ NM_133378.4(TTN):c.51001G>A (p.Asp17001Asn) http://identifiers.org/clinvar/47140 ^@ NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) http://identifiers.org/clinvar/47141 ^@ NM_133378.4(TTN):c.51198T>C (p.His17066=) http://identifiers.org/clinvar/47142 ^@ NM_133378.4(TTN):c.51229C>T (p.Leu17077=) http://identifiers.org/clinvar/47143 ^@ NM_133378.4(TTN):c.51278G>A (p.Gly17093Asp) http://identifiers.org/clinvar/47144 ^@ NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe) http://identifiers.org/clinvar/47145 ^@ NM_133378.4(TTN):c.51388G>T (p.Asp17130Tyr) http://identifiers.org/clinvar/47146 ^@ NM_001256850.1(TTN):c.54190C>T (p.Arg18064Cys) http://identifiers.org/clinvar/47147 ^@ NM_001256850.1(TTN):c.54282delG (p.Glu18094Aspfs) http://identifiers.org/clinvar/47148 ^@ NM_001256850.1(TTN):c.54392C>T (p.Pro18131Leu) http://identifiers.org/clinvar/47149 ^@ NM_133378.4(TTN):c.51614A>G (p.Glu17205Gly) http://identifiers.org/clinvar/47150 ^@ NM_133378.4(TTN):c.51615G>A (p.Glu17205=) http://identifiers.org/clinvar/47151 ^@ NM_133378.4(TTN):c.51618A>G (p.Pro17206=) http://identifiers.org/clinvar/47152 ^@ NM_133378.4(TTN):c.51881C>T (p.Pro17294Leu) http://identifiers.org/clinvar/47153 ^@ NM_133378.4(TTN):c.51981C>T (p.Tyr17327=) http://identifiers.org/clinvar/47154 ^@ NM_001256850.1(TTN):c.54784G>A (p.Asp18262Asn) http://identifiers.org/clinvar/47155 ^@ NM_133378.4(TTN):c.52131C>T (p.Asn17377=) http://identifiers.org/clinvar/47156 ^@ NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) http://identifiers.org/clinvar/47157 ^@ NM_133378.4(TTN):c.52301A>G (p.Asp17434Gly) http://identifiers.org/clinvar/47158 ^@ NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) http://identifiers.org/clinvar/47159 ^@ NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) http://identifiers.org/clinvar/47160 ^@ NM_133378.4(TTN):c.52528G>A (p.Val17510Met) http://identifiers.org/clinvar/47161 ^@ NM_001256850.1(TTN):c.55548C>T (p.Ala18516=) http://identifiers.org/clinvar/47162 ^@ NM_133378.4(TTN):c.52786G>C (p.Val17596Leu) http://identifiers.org/clinvar/47163 ^@ NM_133378.4(TTN):c.53017G>C (p.Glu17673Gln) http://identifiers.org/clinvar/47164 ^@ NM_133378.4(TTN):c.53042A>C (p.Glu17681Ala) http://identifiers.org/clinvar/47165 ^@ NM_001256850.1(TTN):c.55898C>T (p.Pro18633Leu) http://identifiers.org/clinvar/47166 ^@ NM_001256850.1(TTN):c.5314A>G (p.Ser1772Gly) http://identifiers.org/clinvar/47167 ^@ NM_133378.4(TTN):c.53172G>C (p.Trp17724Cys) http://identifiers.org/clinvar/47168 ^@ NM_133378.4(TTN):c.53396G>A (p.Arg17799Gln) http://identifiers.org/clinvar/47169 ^@ NM_133378.4(TTN):c.53459C>G (p.Ala17820Gly) http://identifiers.org/clinvar/47170 ^@ NM_133378.4(TTN):c.53541A>G (p.Thr17847=) http://identifiers.org/clinvar/47171 ^@ NM_133378.4(TTN):c.5354C>G (p.Thr1785Arg) http://identifiers.org/clinvar/47172 ^@ NM_133378.4(TTN):c.53618A>G (p.Asn17873Ser) http://identifiers.org/clinvar/47173 ^@ NM_133378.4(TTN):c.53705T>C (p.Ile17902Thr) http://identifiers.org/clinvar/47174 ^@ NM_001256850.1(TTN):c.5388T>C (p.Asp1796=) http://identifiers.org/clinvar/47175 ^@ NM_001256850.1(TTN):c.56953C>T (p.Arg18985Ter) http://identifiers.org/clinvar/47176 ^@ NM_133378.4(TTN):c.5418G>T (p.Leu1806Phe) http://identifiers.org/clinvar/47177 ^@ NM_133378.4(TTN):c.54218G>A (p.Arg18073Gln) http://identifiers.org/clinvar/47178 ^@ NM_133378.4(TTN):c.542G>A (p.Ser181Asn) http://identifiers.org/clinvar/47179 ^@ NM_133378.4(TTN):c.54354T>C (p.Tyr18118=) http://identifiers.org/clinvar/47180 ^@ NM_001256850.1(TTN):c.57255T>C (p.Thr19085=) http://identifiers.org/clinvar/47181 ^@ NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln) http://identifiers.org/clinvar/47182 ^@ NM_133379.4(TTN):c.*265+155980C>A http://identifiers.org/clinvar/47183 ^@ NM_133378.4(TTN):c.54755T>C (p.Ile18252Thr) http://identifiers.org/clinvar/47184 ^@ NM_133378.4(TTN):c.5479G>T (p.Ala1827Ser) http://identifiers.org/clinvar/47185 ^@ NM_133378.4(TTN):c.54868A>G (p.Thr18290Ala) http://identifiers.org/clinvar/47186 ^@ NM_133378.4(TTN):c.55076G>A (p.Arg18359His) http://identifiers.org/clinvar/47187 ^@ NM_133378.4(TTN):c.55290C>T (p.Tyr18430=) http://identifiers.org/clinvar/47188 ^@ NM_133378.4(TTN):c.55319C>T (p.Thr18440Ile) http://identifiers.org/clinvar/47189 ^@ NM_133378.4(TTN):c.55322G>A (p.Arg18441Gln) http://identifiers.org/clinvar/47190 ^@ NM_133378.4(TTN):c.55410C>A (p.Val18470=) http://identifiers.org/clinvar/47191 ^@ NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) http://identifiers.org/clinvar/47192 ^@ NM_133378.4(TTN):c.55477C>T (p.Pro18493Ser) http://identifiers.org/clinvar/47193 ^@ NM_133378.4(TTN):c.55587T>C (p.Ile18529=) http://identifiers.org/clinvar/47194 ^@ NM_133378.4(TTN):c.55648C>T (p.Arg18550Trp) http://identifiers.org/clinvar/47195 ^@ NM_133378.4(TTN):c.5582G>A (p.Arg1861His) http://identifiers.org/clinvar/47196 ^@ NM_133378.4(TTN):c.55854G>A (p.Val18618=) http://identifiers.org/clinvar/47197 ^@ NM_133378.4(TTN):c.55885A>G (p.Ile18629Val) http://identifiers.org/clinvar/47198 ^@ NM_133378.4(TTN):c.55928T>C (p.Val18643Ala) http://identifiers.org/clinvar/47199 ^@ NM_133378.4(TTN):c.56172C>T (p.Asn18724=) http://identifiers.org/clinvar/47200 ^@ NM_003319.4(TTN):c.36684C>T (p.Asp12228=) http://identifiers.org/clinvar/47201 ^@ NM_133378.4(TTN):c.56213G>A (p.Arg18738His) http://identifiers.org/clinvar/47202 ^@ NM_133378.4(TTN):c.56238G>A (p.Ser18746=) http://identifiers.org/clinvar/47203 ^@ NM_133378.4(TTN):c.56256T>A (p.Val18752=) http://identifiers.org/clinvar/47204 ^@ NM_133378.4(TTN):c.56277A>G (p.Val18759=) http://identifiers.org/clinvar/47205 ^@ NM_133378.4(TTN):c.56328C>T (p.Asn18776=) http://identifiers.org/clinvar/47206 ^@ NM_133378.4(TTN):c.56397G>A (p.Pro18799=) http://identifiers.org/clinvar/47207 ^@ NM_133378.4(TTN):c.5644C>T (p.Arg1882Cys) http://identifiers.org/clinvar/47208 ^@ NM_133378.4(TTN):c.56470C>T (p.Arg18824Cys) http://identifiers.org/clinvar/47209 ^@ NM_133378.4(TTN):c.56504C>T (p.Thr18835Ile) http://identifiers.org/clinvar/47210 ^@ NM_133378.4(TTN):c.5668C>T (p.Arg1890Cys) http://identifiers.org/clinvar/47211 ^@ NM_133378.4(TTN):c.56885C>T (p.Thr18962Ile) http://identifiers.org/clinvar/47212 ^@ NM_001256850.1(TTN):c.5697C>T (p.Ile1899=) http://identifiers.org/clinvar/47213 ^@ NM_133378.4(TTN):c.57085G>A (p.Val19029Met) http://identifiers.org/clinvar/47214 ^@ NM_133378.4(TTN):c.57156G>A (p.Arg19052=) http://identifiers.org/clinvar/47215 ^@ NM_133378.4(TTN):c.57199C>T (p.Arg19067Cys) http://identifiers.org/clinvar/47216 ^@ NM_133378.4(TTN):c.57388C>T (p.Arg19130Cys) http://identifiers.org/clinvar/47217 ^@ NM_133378.4(TTN):c.5741C>T (p.Ala1914Val) http://identifiers.org/clinvar/47218 ^@ NM_133378.4(TTN):c.57443C>T (p.Ser19148Leu) http://identifiers.org/clinvar/47219 ^@ NM_133378.4(TTN):c.57483G>A (p.Glu19161=) http://identifiers.org/clinvar/47220 ^@ NM_133378.4(TTN):c.57490T>C (p.Phe19164Leu) http://identifiers.org/clinvar/47221 ^@ NM_001256850.1(TTN):c.60353-8T>C http://identifiers.org/clinvar/47222 ^@ NM_133378.4(TTN):c.57755C>T (p.Thr19252Ile) http://identifiers.org/clinvar/47223 ^@ NM_133378.4(TTN):c.57812C>T (p.Ala19271Val) http://identifiers.org/clinvar/47224 ^@ NM_001267550.2(TTN):c.65575+10T>C http://identifiers.org/clinvar/47225 ^@ NM_001256850.1(TTN):c.60681T>C (p.Ala20227=) http://identifiers.org/clinvar/47226 ^@ NM_003319.4(TTN):c.38477C>T (p.Pro12826Leu) http://identifiers.org/clinvar/47227 ^@ NM_133378.4(TTN):c.57978A>G (p.Thr19326=) http://identifiers.org/clinvar/47228 ^@ NM_133378.4(TTN):c.58039C>A (p.Gln19347Lys) http://identifiers.org/clinvar/47229 ^@ NM_001256850.1(TTN):c.60824G>A (p.Arg20275Gln) http://identifiers.org/clinvar/47230 ^@ NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) http://identifiers.org/clinvar/47231 ^@ NM_001256850.1(TTN):c.5823A>G (p.Arg1941=) http://identifiers.org/clinvar/47232 ^@ NM_133378.4(TTN):c.583+5G>A http://identifiers.org/clinvar/47233 ^@ NM_001256850.1(TTN):c.61163G>A (p.Arg20388His) http://identifiers.org/clinvar/47234 ^@ NM_001256850.1(TTN):c.61468A>G (p.Thr20490Ala) http://identifiers.org/clinvar/47235 ^@ NM_133378.4(TTN):c.58776G>A (p.Pro19592=) http://identifiers.org/clinvar/47236 ^@ NM_133378.4(TTN):c.58910G>A (p.Arg19637Lys) http://identifiers.org/clinvar/47237 ^@ NM_133378.4(TTN):c.58914C>A (p.Cys19638Ter) http://identifiers.org/clinvar/47238 ^@ NM_001256850.1(TTN):c.61750G>A (p.Asp20584Asn) http://identifiers.org/clinvar/47239 ^@ NM_133378.4(TTN):c.58977A>G (p.Gln19659=) http://identifiers.org/clinvar/47240 ^@ NM_001256850.1(TTN):c.61769G>A (p.Arg20590His) http://identifiers.org/clinvar/47241 ^@ NM_133378.4(TTN):c.58998C>T (p.Ala19666=) http://identifiers.org/clinvar/47242 ^@ NM_133378.4(TTN):c.5917A>G (p.Thr1973Ala) http://identifiers.org/clinvar/47243 ^@ NM_133378.4(TTN):c.59194G>A (p.Val19732Ile) http://identifiers.org/clinvar/47244 ^@ NM_133378.4(TTN):c.59213T>C (p.Ile19738Thr) http://identifiers.org/clinvar/47245 ^@ NM_001256850.1(TTN):c.62054A>G (p.Lys20685Arg) http://identifiers.org/clinvar/47246 ^@ NM_133378.4(TTN):c.59292T>C (p.Tyr19764=) http://identifiers.org/clinvar/47247 ^@ NM_133378.4(TTN):c.59371G>A (p.Val19791Ile) http://identifiers.org/clinvar/47248 ^@ NM_133378.4(TTN):c.59395T>C (p.Ser19799Pro) http://identifiers.org/clinvar/47249 ^@ NM_133378.4(TTN):c.59443G>A (p.Gly19815Arg) http://identifiers.org/clinvar/47250 ^@ NM_133378.4(TTN):c.59542G>C (p.Ala19848Pro) http://identifiers.org/clinvar/47251 ^@ NM_133378.4(TTN):c.59783A>G (p.Lys19928Arg) http://identifiers.org/clinvar/47252 ^@ NM_133378.4(TTN):c.597A>G (p.Val199=) http://identifiers.org/clinvar/47253 ^@ NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) http://identifiers.org/clinvar/47254 ^@ NM_133378.4(TTN):c.59867G>A (p.Ser19956Asn) http://identifiers.org/clinvar/47255 ^@ NM_133378.4(TTN):c.59931T>C (p.Val19977=) http://identifiers.org/clinvar/47256 ^@ NM_133378.4(TTN):c.5993G>A (p.Arg1998His) http://identifiers.org/clinvar/47257 ^@ NM_133378.4(TTN):c.59977T>C (p.Leu19993=) http://identifiers.org/clinvar/47258 ^@ NM_133378.4(TTN):c.60256G>C (p.Asp20086His) http://identifiers.org/clinvar/47259 ^@ NM_133378.4(TTN):c.6029A>G (p.Tyr2010Cys) http://identifiers.org/clinvar/47260 ^@ NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) http://identifiers.org/clinvar/47261 ^@ NM_001256850.1(TTN):c.63237C>T (p.Ala21079=) http://identifiers.org/clinvar/47262 ^@ NM_133378.4(TTN):c.60492G>A (p.Ser20164=) http://identifiers.org/clinvar/47263 ^@ NM_133378.4(TTN):c.60513T>C (p.His20171=) http://identifiers.org/clinvar/47264 ^@ NM_133378.4(TTN):c.60568G>A (p.Asp20190Asn) http://identifiers.org/clinvar/47265 ^@ NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) http://identifiers.org/clinvar/47266 ^@ NM_133378.4(TTN):c.60578C>T (p.Ser20193Phe) http://identifiers.org/clinvar/47267 ^@ NM_133378.4(TTN):c.60706A>G (p.Lys20236Glu) http://identifiers.org/clinvar/47268 ^@ NM_001256850.1(TTN):c.63535G>C (p.Ala21179Pro) http://identifiers.org/clinvar/47269 ^@ NM_001256850.1(TTN):c.63602T>C (p.Ile21201Thr) http://identifiers.org/clinvar/47270 ^@ NM_133378.4(TTN):c.61008T>C (p.Thr20336=) http://identifiers.org/clinvar/47271 ^@ NM_133378.4(TTN):c.61441A>G (p.Ile20481Val) http://identifiers.org/clinvar/47272 ^@ NM_001267550.2(TTN):c.69412+10G>C http://identifiers.org/clinvar/47273 ^@ NM_133378.4(TTN):c.61754_61757dupAGAA (p.Asn20586Lysfs) http://identifiers.org/clinvar/47274 ^@ NM_133378.4(TTN):c.61881C>T (p.Ser20627=) http://identifiers.org/clinvar/47275 ^@ NM_133378.4(TTN):c.61972A>G (p.Ser20658Gly) http://identifiers.org/clinvar/47276 ^@ NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) http://identifiers.org/clinvar/47277 ^@ NM_001256850.1(TTN):c.64898G>A (p.Gly21633Asp) http://identifiers.org/clinvar/47278 ^@ NM_001256850.1(TTN):c.64980C>A (p.Phe21660Leu) http://identifiers.org/clinvar/47279 ^@ NM_133378.4(TTN):c.62200G>A (p.Val20734Ile) http://identifiers.org/clinvar/47280 ^@ NM_133378.4(TTN):c.6227A>G (p.Glu2076Gly) http://identifiers.org/clinvar/47281 ^@ NM_133378.4(TTN):c.62332C>T (p.Leu20778=) http://identifiers.org/clinvar/47282 ^@ NM_133378.4(TTN):c.62341G>A (p.Glu20781Lys) http://identifiers.org/clinvar/47283 ^@ NM_133378.4(TTN):c.62477C>T (p.Thr20826Met) http://identifiers.org/clinvar/47284 ^@ NM_001256850.1(TTN):c.65382G>A (p.Thr21794=) http://identifiers.org/clinvar/47285 ^@ NM_133378.4(TTN):c.62769A>G (p.Lys20923=) http://identifiers.org/clinvar/47286 ^@ NM_001256850.1(TTN):c.65569G>A (p.Gly21857Ser) http://identifiers.org/clinvar/47287 ^@ NM_133378.4(TTN):c.62896T>A (p.Ser20966Thr) http://identifiers.org/clinvar/47288 ^@ NM_133378.4(TTN):c.62940C>T (p.Thr20980=) http://identifiers.org/clinvar/47289 ^@ NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) http://identifiers.org/clinvar/47290 ^@ NM_133378.4(TTN):c.62992G>C (p.Gly20998Arg) http://identifiers.org/clinvar/47291 ^@ NM_133378.4(TTN):c.63044C>A (p.Thr21015Lys) http://identifiers.org/clinvar/47292 ^@ NM_001267550.2(TTN):c.70815G>A (p.Val23605=) http://identifiers.org/clinvar/47293 ^@ NM_133378.4(TTN):c.63126C>T (p.Ser21042=) http://identifiers.org/clinvar/47294 ^@ NM_133378.4(TTN):c.63128C>T (p.Ala21043Val) http://identifiers.org/clinvar/47295 ^@ NM_133378.4(TTN):c.63129G>A (p.Ala21043=) http://identifiers.org/clinvar/47296 ^@ NM_133378.4(TTN):c.63263C>T (p.Pro21088Leu) http://identifiers.org/clinvar/47297 ^@ TTN:c.6353T>C (p.Ile2118Thr) http://identifiers.org/clinvar/47298 ^@ NM_133378.4(TTN):c.63665G>A (p.Arg21222His) http://identifiers.org/clinvar/47299 ^@ NM_133378.4(TTN):c.63669T>G (p.Leu21223=) http://identifiers.org/clinvar/47300 ^@ NM_133378.4(TTN):c.6380A>G (p.Tyr2127Cys) http://identifiers.org/clinvar/47301 ^@ NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) http://identifiers.org/clinvar/47302 ^@ NM_133378.4(TTN):c.64001T>C (p.Ile21334Thr) http://identifiers.org/clinvar/47303 ^@ NM_001256850.1(TTN):c.66958G>A (p.Val22320Ile) http://identifiers.org/clinvar/47304 ^@ NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) http://identifiers.org/clinvar/47305 ^@ NM_133378.4(TTN):c.64289G>A (p.Arg21430His) http://identifiers.org/clinvar/47306 ^@ NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) http://identifiers.org/clinvar/47307 ^@ NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) http://identifiers.org/clinvar/47308 ^@ NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) http://identifiers.org/clinvar/47309 ^@ NM_133378.4(TTN):c.64433C>T (p.Ala21478Val) http://identifiers.org/clinvar/47310 ^@ NM_133378.4(TTN):c.64467A>G (p.Pro21489=) http://identifiers.org/clinvar/47311 ^@ NM_133378.4(TTN):c.64477A>G (p.Met21493Val) http://identifiers.org/clinvar/47312 ^@ NM_001256850.1(TTN):c.67456G>A (p.Glu22486Lys) http://identifiers.org/clinvar/47313 ^@ NM_133378.4(TTN):c.64478T>C (p.Met21493Thr) http://identifiers.org/clinvar/47314 ^@ NM_001256850.1(TTN):c.67565G>A (p.Arg22522His) http://identifiers.org/clinvar/47315 ^@ NM_133378.4(TTN):c.6478A>G (p.Thr2160Ala) http://identifiers.org/clinvar/47316 ^@ NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) http://identifiers.org/clinvar/47317 ^@ NM_133378.4(TTN):c.65078G>A (p.Arg21693Gln) http://identifiers.org/clinvar/47318 ^@ NM_133378.4(TTN):c.65227A>G (p.Thr21743Ala) http://identifiers.org/clinvar/47319 ^@ NM_133378.4(TTN):c.65281A>G (p.Asn21761Asp) http://identifiers.org/clinvar/47320 ^@ NM_133378.4(TTN):c.65464A>G (p.Thr21822Ala) http://identifiers.org/clinvar/47321 ^@ NM_001256850.1(TTN):c.68413C>T (p.Leu22805=) http://identifiers.org/clinvar/47322 ^@ NM_001256850.1(TTN):c.68902G>C (p.Glu22968Gln) http://identifiers.org/clinvar/47323 ^@ NM_133378.4(TTN):c.66123delA (p.Glu22041Aspfs) http://identifiers.org/clinvar/47324 ^@ NM_133378.4(TTN):c.66141delA (p.Glu22047Aspfs) http://identifiers.org/clinvar/47325 ^@ NM_133378.4(TTN):c.66408T>C (p.Ser22136=) http://identifiers.org/clinvar/47326 ^@ NM_133378.4(TTN):c.66477A>G (p.Val22159=) http://identifiers.org/clinvar/47327 ^@ NM_133378.4(TTN):c.6678_6681delAAAG (p.Lys2227Phefs) http://identifiers.org/clinvar/47328 ^@ NM_001256850.1(TTN):c.69604A>G (p.Asn23202Asp) http://identifiers.org/clinvar/47329 ^@ NM_133378.4(TTN):c.67135C>T (p.Arg22379Cys) http://identifiers.org/clinvar/47330 ^@ NM_133378.4(TTN):c.6713C>T (p.Thr2238Met) http://identifiers.org/clinvar/47331 ^@ NM_001256850.1(TTN):c.69968C>T (p.Pro23323Leu) http://identifiers.org/clinvar/47332 ^@ NM_001256850.1(TTN):c.69972A>C (p.Gln23324His) http://identifiers.org/clinvar/47333 ^@ NM_133378.4(TTN):c.67268T>C (p.Ile22423Thr) http://identifiers.org/clinvar/47334 ^@ NM_133378.4(TTN):c.6727G>T (p.Asp2243Tyr) http://identifiers.org/clinvar/47335 ^@ NM_001256850.1(TTN):c.70111C>T (p.Arg23371Trp) http://identifiers.org/clinvar/47336 ^@ NM_133378.4(TTN):c.67340C>T (p.Ala22447Val) http://identifiers.org/clinvar/47337 ^@ NM_133378.4(TTN):c.67570G>A (p.Glu22524Lys) http://identifiers.org/clinvar/47338 ^@ NM_001256850.1(TTN):c.70518A>G (p.Lys23506=) http://identifiers.org/clinvar/47339 ^@ NM_133378.4(TTN):c.67818A>C (p.Ala22606=) http://identifiers.org/clinvar/47340 ^@ NM_001256850.1(TTN):c.70811G>A (p.Arg23604Lys) http://identifiers.org/clinvar/47341 ^@ NM_133378.4(TTN):c.68041C>T (p.Arg22681Cys) http://identifiers.org/clinvar/47342 ^@ NM_133378.4(TTN):c.68366G>A (p.Arg22789His) http://identifiers.org/clinvar/47343 ^@ NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) http://identifiers.org/clinvar/47344 ^@ NM_133378.4(TTN):c.68495G>C (p.Cys22832Ser) http://identifiers.org/clinvar/47345 ^@ NM_133378.4(TTN):c.68496T>C (p.Cys22832=) http://identifiers.org/clinvar/47346 ^@ NM_133378.4(TTN):c.68525A>T (p.Asn22842Ile) http://identifiers.org/clinvar/47347 ^@ NM_133378.4(TTN):c.68639G>A (p.Ser22880Asn) http://identifiers.org/clinvar/47348 ^@ NM_133378.4(TTN):c.68969A>T (p.Asp22990Val) http://identifiers.org/clinvar/47349 ^@ NM_133378.4(TTN):c.69016T>C (p.Tyr23006His) http://identifiers.org/clinvar/47350 ^@ NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) http://identifiers.org/clinvar/47351 ^@ NM_133378.4(TTN):c.69035C>T (p.Thr23012Met) http://identifiers.org/clinvar/47352 ^@ NM_133378.4(TTN):c.69309T>C (p.Tyr23103=) http://identifiers.org/clinvar/47353 ^@ NM_133378.4(TTN):c.69369T>C (p.Asp23123=) http://identifiers.org/clinvar/47354 ^@ NM_133378.4(TTN):c.6941T>C (p.Ile2314Thr) http://identifiers.org/clinvar/47355 ^@ NM_001267550.2(TTN):c.77205G>A (p.Val25735=) http://identifiers.org/clinvar/47356 ^@ NM_133378.4(TTN):c.69575A>G (p.Asn23192Ser) http://identifiers.org/clinvar/47357 ^@ NM_133378.4(TTN):c.6981T>C (p.Asp2327=) http://identifiers.org/clinvar/47358 ^@ NM_133378.4(TTN):c.69860T>A (p.Leu23287His) http://identifiers.org/clinvar/47359 ^@ NM_133378.4(TTN):c.69934A>G (p.Thr23312Ala) http://identifiers.org/clinvar/47360 ^@ NM_133378.4(TTN):c.70085A>C (p.Lys23362Thr) http://identifiers.org/clinvar/47361 ^@ NM_001256850.1(TTN):c.72890G>C (p.Trp24297Ser) http://identifiers.org/clinvar/47362 ^@ NM_133378.4(TTN):c.70112A>C (p.Asp23371Ala) http://identifiers.org/clinvar/47363 ^@ NM_133378.4(TTN):c.70144C>T (p.Leu23382Phe) http://identifiers.org/clinvar/47364 ^@ NM_001256850.1(TTN):c.73224A>G (p.Gln24408=) http://identifiers.org/clinvar/47365 ^@ NM_001256850.1(TTN):c.7061G>A (p.Arg2354His) http://identifiers.org/clinvar/47366 ^@ NM_133378.4(TTN):c.70666A>T (p.Ile23556Phe) http://identifiers.org/clinvar/47367 ^@ NM_133378.4(TTN):c.70970T>C (p.Ile23657Thr) http://identifiers.org/clinvar/47368 ^@ NM_001256850.1(TTN):c.73969G>A (p.Gly24657Arg) http://identifiers.org/clinvar/47369 ^@ NM_001256850.1(TTN):c.74057G>A (p.Arg24686Gln) http://identifiers.org/clinvar/47370 ^@ NM_133378.4(TTN):c.71358T>A (p.Gly23786=) http://identifiers.org/clinvar/47371 ^@ NM_133378.4(TTN):c.71423C>A (p.Ala23808Glu) http://identifiers.org/clinvar/47372 ^@ NM_133378.4(TTN):c.71522G>A (p.Arg23841His) http://identifiers.org/clinvar/47373 ^@ NM_133378.4(TTN):c.71561T>C (p.Ile23854Thr) http://identifiers.org/clinvar/47374 ^@ NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) http://identifiers.org/clinvar/47375 ^@ NM_133378.4(TTN):c.71615G>A (p.Arg23872His) http://identifiers.org/clinvar/47376 ^@ NM_001256850.1(TTN):c.7173C>T (p.Asp2391=) http://identifiers.org/clinvar/47377 ^@ NM_133378.4(TTN):c.7174G>A (p.Gly2392Ser) http://identifiers.org/clinvar/47378 ^@ NM_133378.4(TTN):c.71814T>C (p.Leu23938=) http://identifiers.org/clinvar/47379 ^@ NM_001267550.2(TTN):c.79689C>A (p.Val26563=) http://identifiers.org/clinvar/47380 ^@ NM_133378.4(TTN):c.72079G>C (p.Asp24027His) http://identifiers.org/clinvar/47381 ^@ NM_133378.4(TTN):c.72123delT (p.Ala24042Profs) http://identifiers.org/clinvar/47382 ^@ NM_133378.4(TTN):c.72158C>T (p.Thr24053Met) http://identifiers.org/clinvar/47383 ^@ NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) http://identifiers.org/clinvar/47384 ^@ NM_133378.4(TTN):c.72567C>T (p.Val24189=) http://identifiers.org/clinvar/47385 ^@ NM_133378.4(TTN):c.72619G>A (p.Val24207Met) http://identifiers.org/clinvar/47386 ^@ NM_133378.4(TTN):c.72721G>A (p.Gly24241Ser) http://identifiers.org/clinvar/47387 ^@ NM_133378.4(TTN):c.72849_72850delCCinsTT (p.Arg24284Cys) http://identifiers.org/clinvar/47388 ^@ NM_133378.4(TTN):c.72858G>A (p.Lys24286=) http://identifiers.org/clinvar/47389 ^@ NM_133378.4(TTN):c.72904C>A (p.Pro24302Thr) http://identifiers.org/clinvar/47390 ^@ NM_133378.4(TTN):c.72931C>A (p.Gln24311Lys) http://identifiers.org/clinvar/47391 ^@ NM_001256850.1(TTN):c.75738C>T (p.Asn25246=) http://identifiers.org/clinvar/47392 ^@ NM_133378.4(TTN):c.73095C>A (p.Thr24365=) http://identifiers.org/clinvar/47393 ^@ NM_001256850.1(TTN):c.76060G>A (p.Glu25354Lys) http://identifiers.org/clinvar/47394 ^@ NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) http://identifiers.org/clinvar/47395 ^@ NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) http://identifiers.org/clinvar/47396 ^@ NM_133378.4(TTN):c.73760T>C (p.Ile24587Thr) http://identifiers.org/clinvar/47397 ^@ NM_133378.4(TTN):c.73828G>T (p.Glu24610Ter) http://identifiers.org/clinvar/47398 ^@ NM_133378.4(TTN):c.73835T>C (p.Ile24612Thr) http://identifiers.org/clinvar/47399 ^@ NM_001256850.1(TTN):c.76635T>C (p.Asn25545=) http://identifiers.org/clinvar/47400 ^@ NM_133378.4(TTN):c.73908T>A (p.Gly24636=) http://identifiers.org/clinvar/47401 ^@ NM_133378.4(TTN):c.73967A>G (p.Asn24656Ser) http://identifiers.org/clinvar/47402 ^@ NM_133378.4(TTN):c.74151C>T (p.Ile24717=) http://identifiers.org/clinvar/47403 ^@ NM_133378.4(TTN):c.74152G>A (p.Val24718Ile) http://identifiers.org/clinvar/47404 ^@ NM_001256850.1(TTN):c.76976G>A (p.Arg25659His) http://identifiers.org/clinvar/47405 ^@ TTN:c.81958G>A (p.Ala27320Thr) http://identifiers.org/clinvar/47406 ^@ NM_133378.4(TTN):c.74357T>G (p.Val24786Gly) http://identifiers.org/clinvar/47407 ^@ NM_133378.4(TTN):c.74377C>G (p.Pro24793Ala) http://identifiers.org/clinvar/47408 ^@ NM_001256850.1(TTN):c.77180A>G (p.Asp25727Gly) http://identifiers.org/clinvar/47409 ^@ NM_133378.4(TTN):c.74516T>C (p.Ile24839Thr) http://identifiers.org/clinvar/47410 ^@ TTN:c.82385C>A (p.Thr27462Lys) http://identifiers.org/clinvar/47411 ^@ NM_133378.4(TTN):c.74698A>C (p.Lys24900Gln) http://identifiers.org/clinvar/47412 ^@ NM_001256850.1(TTN):c.77566G>A (p.Gly25856Arg) http://identifiers.org/clinvar/47413 ^@ NM_133378.4(TTN):c.74793C>T (p.Thr24931=) http://identifiers.org/clinvar/47414 ^@ NM_133378.4(TTN):c.74856C>A (p.Asn24952Lys) http://identifiers.org/clinvar/47415 ^@ NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) http://identifiers.org/clinvar/47416 ^@ NM_001256850.1(TTN):c.77768C>T (p.Ala25923Val) http://identifiers.org/clinvar/47417 ^@ NM_133378.4(TTN):c.75036G>A (p.Thr25012=) http://identifiers.org/clinvar/57408 ^@ GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 http://identifiers.org/clinvar/57409 ^@ GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 http://identifiers.org/clinvar/57410 ^@ GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 http://identifiers.org/clinvar/57411 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 http://identifiers.org/clinvar/57412 ^@ GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 http://identifiers.org/clinvar/57413 ^@ GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 http://identifiers.org/clinvar/57414 ^@ GRCh38/hg38 6q27(chr6:170538168-170612001)x3 http://identifiers.org/clinvar/57415 ^@ GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1 http://identifiers.org/clinvar/57416 ^@ GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 http://identifiers.org/clinvar/57417 ^@ GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 http://identifiers.org/clinvar/57418 ^@ GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3 http://identifiers.org/clinvar/57419 ^@ GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 http://identifiers.org/clinvar/57420 ^@ GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 http://identifiers.org/clinvar/57421 ^@ GRCh38/hg38 7q11.22(chr7:70244387-70509722)x3 http://identifiers.org/clinvar/57422 ^@ GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 http://identifiers.org/clinvar/57423 ^@ GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3 http://identifiers.org/clinvar/57424 ^@ GRCh38/hg38 9q34.3(chr9:137778047-137862670)x1 http://identifiers.org/clinvar/57425 ^@ GRCh38/hg38 17p13.3(chr17:644280-2193615)x3 http://identifiers.org/clinvar/57426 ^@ GRCh38/hg38 2q37.2-37.3(chr2:236043791-237379158)x3 http://identifiers.org/clinvar/57427 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3 http://identifiers.org/clinvar/57428 ^@ GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 http://identifiers.org/clinvar/57429 ^@ GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3 http://identifiers.org/clinvar/57431 ^@ GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 http://identifiers.org/clinvar/57432 ^@ GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 http://identifiers.org/clinvar/57433 ^@ GRCh38/hg38 Xq13.1(chrX:69880987-70415042)x3 http://identifiers.org/clinvar/57434 ^@ GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1 http://identifiers.org/clinvar/57435 ^@ GRCh38/hg38 8q22.2(chr8:99278660-99451719)x1 http://identifiers.org/clinvar/57436 ^@ GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3 http://identifiers.org/clinvar/57437 ^@ GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3 http://identifiers.org/clinvar/57438 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 http://identifiers.org/clinvar/57439 ^@ GRCh38/hg38 9p24.1(chr9:4970093-5483250)x1 http://identifiers.org/clinvar/57440 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 http://identifiers.org/clinvar/57441 ^@ GRCh38/hg38 19p13.3(chr19:259395-819679)x3 http://identifiers.org/clinvar/57442 ^@ GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 http://identifiers.org/clinvar/57443 ^@ GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 http://identifiers.org/clinvar/57444 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 http://identifiers.org/clinvar/57445 ^@ GRCh38/hg38 17p13.3(chr17:198748-2261786)x1 http://identifiers.org/clinvar/57446 ^@ GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1 http://identifiers.org/clinvar/57447 ^@ GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 http://identifiers.org/clinvar/57448 ^@ GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 http://identifiers.org/clinvar/57449 ^@ GRCh38/hg38 15q11.2(chr15:24341879-24670107)x3 http://identifiers.org/clinvar/57450 ^@ GRCh38/hg38 15q13.2(chr15:30662523-30891704)x3 http://identifiers.org/clinvar/57451 ^@ GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3 http://identifiers.org/clinvar/57452 ^@ GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 http://identifiers.org/clinvar/57453 ^@ GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 http://identifiers.org/clinvar/57454 ^@ GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 http://identifiers.org/clinvar/57455 ^@ GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1 http://identifiers.org/clinvar/57456 ^@ GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3 http://identifiers.org/clinvar/57457 ^@ GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 http://identifiers.org/clinvar/57458 ^@ GRCh38/hg38 1q22(chr1:155182457-155787428)x3 http://identifiers.org/clinvar/57459 ^@ GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1 http://identifiers.org/clinvar/57460 ^@ GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1 http://identifiers.org/clinvar/57461 ^@ GRCh38/hg38 Xq27.3(chrX:147933767-147951004)x0 http://identifiers.org/clinvar/57463 ^@ GRCh38/hg38 18q22.1(chr18:66242508-66790270)x1 http://identifiers.org/clinvar/57464 ^@ GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 http://identifiers.org/clinvar/57465 ^@ GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 http://identifiers.org/clinvar/57466 ^@ GRCh38/hg38 15q21.3(chr15:58227724-58464615)x1 http://identifiers.org/clinvar/57467 ^@ GRCh38/hg38 17q21.31(chr17:46061147-46661960)x1 http://identifiers.org/clinvar/57468 ^@ GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1 http://identifiers.org/clinvar/57469 ^@ GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 http://identifiers.org/clinvar/57470 ^@ GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 http://identifiers.org/clinvar/57471 ^@ GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 http://identifiers.org/clinvar/57472 ^@ GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1 http://identifiers.org/clinvar/57473 ^@ GRCh38/hg38 7p21.1-15.3(chr7:20733453-20954082)x1 http://identifiers.org/clinvar/57474 ^@ GRCh38/hg38 10q23.33-24.1(chr10:94872737-95346558)x3 http://identifiers.org/clinvar/57475 ^@ GRCh38/hg38 Xp22.2(chrX:11038216-11190005)x3 http://identifiers.org/clinvar/57476 ^@ GRCh38/hg38 17p13.3(chr17:198748-722235)x3 http://identifiers.org/clinvar/57477 ^@ GRCh38/hg38 14q32.33(chr14:105987551-106259807)x1 http://identifiers.org/clinvar/57478 ^@ GRCh38/hg38 11p15.2(chr11:16101236-16446623)x1 http://identifiers.org/clinvar/57479 ^@ GRCh38/hg38 Xq21.33(chrX:97300288-98038562)x0 http://identifiers.org/clinvar/57480 ^@ GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1 http://identifiers.org/clinvar/57481 ^@ GRCh38/hg38 1q44(chr1:247682931-248609256)x3 http://identifiers.org/clinvar/57483 ^@ GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 http://identifiers.org/clinvar/57484 ^@ GRCh38/hg38 22q12.2(chr22:29664957-29713572)x3 http://identifiers.org/clinvar/57485 ^@ GRCh38/hg38 4q33-34.1(chr4:170595210-171631981)x1 http://identifiers.org/clinvar/57486 ^@ GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 http://identifiers.org/clinvar/57487 ^@ GRCh38/hg38 Xq26.3-27.1(chrX:138256775-139274578)x2 http://identifiers.org/clinvar/57488 ^@ GRCh38/hg38 1p36.33(chr1:911300-1084417)x3 http://identifiers.org/clinvar/57489 ^@ GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3 http://identifiers.org/clinvar/57490 ^@ GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1 http://identifiers.org/clinvar/57491 ^@ GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 http://identifiers.org/clinvar/57492 ^@ GRCh38/hg38 3q29(chr3:196077857-197165715)x1 http://identifiers.org/clinvar/57493 ^@ GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3 http://identifiers.org/clinvar/57494 ^@ GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1 http://identifiers.org/clinvar/57495 ^@ GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3 http://identifiers.org/clinvar/57496 ^@ GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 http://identifiers.org/clinvar/57497 ^@ GRCh38/hg38 14q11.2(chr14:21919243-22442515)x1 http://identifiers.org/clinvar/57498 ^@ GRCh38/hg38 Xp22.33(chrX:10679-803222)x1 http://identifiers.org/clinvar/57499 ^@ GRCh38/hg38 22q11.23(chr22:24884631-25299561)x3 http://identifiers.org/clinvar/57500 ^@ GRCh38/hg38 Xq28(chrX:155980375-156013167)x0 http://identifiers.org/clinvar/57501 ^@ GRCh37/hg19 17q23(chr17:58934659-60395826)x1 http://identifiers.org/clinvar/57502 ^@ GRCh38/hg38 5q35.3(chr5:181033562-181131973)x3 http://identifiers.org/clinvar/57503 ^@ GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 http://identifiers.org/clinvar/57504 ^@ GRCh38/hg38 13q12.11(chr13:21967730-22503640)x3 http://identifiers.org/clinvar/57505 ^@ GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 http://identifiers.org/clinvar/57506 ^@ GRCh38/hg38 17p11.2(chr17:20935766-21621469)x1 http://identifiers.org/clinvar/57507 ^@ GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 http://identifiers.org/clinvar/57508 ^@ GRCh38/hg38 6q27(chr6:169641704-170612001)x1 http://identifiers.org/clinvar/57509 ^@ GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1 http://identifiers.org/clinvar/57510 ^@ GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 http://identifiers.org/clinvar/57511 ^@ GRCh38/hg38 14q32.33(chr14:105606325-106075078)x1 http://identifiers.org/clinvar/57512 ^@ GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1 http://identifiers.org/clinvar/57513 ^@ GRCh38/hg38 Xq28(chrX:155998122-156022206)x0 http://identifiers.org/clinvar/57514 ^@ GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 http://identifiers.org/clinvar/57515 ^@ GRCh38/hg38 17q12(chr17:36566143-37818104)x1 http://identifiers.org/clinvar/57517 ^@ GRCh38/hg38 1q21.1(chr1:145601946-145807381)x1 http://identifiers.org/clinvar/57518 ^@ GRCh38/hg38 1q21.1(chr1:145601946-145804778)x1 http://identifiers.org/clinvar/57519 ^@ GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1 http://identifiers.org/clinvar/57520 ^@ GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1 http://identifiers.org/clinvar/57522 ^@ GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 http://identifiers.org/clinvar/57523 ^@ GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 http://identifiers.org/clinvar/57524 ^@ GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1 http://identifiers.org/clinvar/57525 ^@ GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1 http://identifiers.org/clinvar/57526 ^@ GRCh38/hg38 17q21.31(chr17:45616241-46136454)x1 http://identifiers.org/clinvar/57527 ^@ GRCh38/hg38 17q21.31(chr17:45629320-46380808)x1 http://identifiers.org/clinvar/57528 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46051878)x1 http://identifiers.org/clinvar/57529 ^@ GRCh38/hg38 15q11.2(chr15:22775968-23066575)x1 http://identifiers.org/clinvar/57530 ^@ GRCh38/hg38 15q11.2(chr15:22358243-23066575)x1 http://identifiers.org/clinvar/57531 ^@ GRCh38/hg38 15q11.2(chr15:22632213-23066575)x1 http://identifiers.org/clinvar/57532 ^@ GRCh38/hg38 15q11.2(chr15:22750921-23066575)x1 http://identifiers.org/clinvar/57533 ^@ GRCh38/hg38 15q11.2(chr15:22559691-23066575)x1 http://identifiers.org/clinvar/57534 ^@ GRCh38/hg38 15q11.2(chr15:22484473-23066575)x1 http://identifiers.org/clinvar/57536 ^@ GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1 http://identifiers.org/clinvar/57537 ^@ GRCh38/hg38 16p13.11(chr16:14816348-15055158)x1 http://identifiers.org/clinvar/57538 ^@ GRCh38/hg38 17q21.31(chr17:45629520-46098805)x1 http://identifiers.org/clinvar/57539 ^@ GRCh38/hg38 17q21.31(chr17:45637714-46118962)x1 http://identifiers.org/clinvar/57540 ^@ GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1 http://identifiers.org/clinvar/57541 ^@ GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1 http://identifiers.org/clinvar/57542 ^@ GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1 http://identifiers.org/clinvar/57543 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1 http://identifiers.org/clinvar/57544 ^@ GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 http://identifiers.org/clinvar/57545 ^@ GRCh38/hg38 2q13(chr2:110025659-110371270)x0 http://identifiers.org/clinvar/57546 ^@ GRCh38/hg38 16p12.2(chr16:21561057-21810544)x1 http://identifiers.org/clinvar/57547 ^@ GRCh38/hg38 16p12.2(chr16:21600992-21740688)x1 http://identifiers.org/clinvar/57548 ^@ GRCh38/hg38 16p12.2(chr16:21600992-21726646)x1 http://identifiers.org/clinvar/57549 ^@ GRCh38/hg38 16p12.2(chr16:21642883-22396751)x1 http://identifiers.org/clinvar/57550 ^@ GRCh38/hg38 16p12.2(chr16:21794978-22396610)x1 http://identifiers.org/clinvar/57551 ^@ GRCh38/hg38 16p12.2(chr16:21826171-22634444)x1 http://identifiers.org/clinvar/57552 ^@ GRCh38/hg38 16p12.2(chr16:21940058-22396610)x1 http://identifiers.org/clinvar/57553 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 http://identifiers.org/clinvar/57554 ^@ GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 http://identifiers.org/clinvar/57555 ^@ GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 http://identifiers.org/clinvar/57556 ^@ GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 http://identifiers.org/clinvar/57557 ^@ GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 http://identifiers.org/clinvar/57558 ^@ GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 http://identifiers.org/clinvar/57559 ^@ GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 http://identifiers.org/clinvar/57560 ^@ GRCh38/hg38 16p12.2(chr16:21973700-22396610)x1 http://identifiers.org/clinvar/57561 ^@ GRCh38/hg38 19q13.12(chr19:36439647-37163160)x1 http://identifiers.org/clinvar/57562 ^@ GRCh38/hg38 2q12.2-12.3(chr2:106260759-107904531)x1 http://identifiers.org/clinvar/57563 ^@ GRCh38/hg38 2q12.2-12.3(chr2:106261594-107786796)x1 http://identifiers.org/clinvar/57564 ^@ GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1 http://identifiers.org/clinvar/57565 ^@ GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1 http://identifiers.org/clinvar/57566 ^@ GRCh38/hg38 7q11.21(chr7:65231558-65401160)x1 http://identifiers.org/clinvar/57567 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 http://identifiers.org/clinvar/57568 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 http://identifiers.org/clinvar/57569 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 http://identifiers.org/clinvar/57570 ^@ GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1 http://identifiers.org/clinvar/57571 ^@ GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1 http://identifiers.org/clinvar/57572 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 http://identifiers.org/clinvar/57573 ^@ GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1 http://identifiers.org/clinvar/57574 ^@ GRCh38/hg38 7q11.23(chr7:75567961-76584901)x1 http://identifiers.org/clinvar/57576 ^@ GRCh38/hg38 Yp11.2(chrY:6724827-9007152)x0 http://identifiers.org/clinvar/57577 ^@ GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3 http://identifiers.org/clinvar/57578 ^@ GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3 http://identifiers.org/clinvar/57579 ^@ GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3 http://identifiers.org/clinvar/57580 ^@ GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3 http://identifiers.org/clinvar/57581 ^@ GRCh38/hg38 15q11.2(chr15:22787972-23226873)x3 http://identifiers.org/clinvar/57582 ^@ GRCh38/hg38 15q11.2(chr15:22572658-23066575)x4 http://identifiers.org/clinvar/57583 ^@ GRCh38/hg38 12q15-21.1(chr12:70051305-71116195)x1 http://identifiers.org/clinvar/57584 ^@ GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 http://identifiers.org/clinvar/57585 ^@ GRCh38/hg38 12q15-21.2(chr12:70390897-79214318)x1 http://identifiers.org/clinvar/57586 ^@ GRCh38/hg38 12q21.31(chr12:80266605-85253555)x1 http://identifiers.org/clinvar/57587 ^@ GRCh38/hg38 12q21.31(chr12:80393097-81021534)x1 http://identifiers.org/clinvar/57588 ^@ GRCh38/hg38 12q21.31(chr12:80530108-80719071)x1 http://identifiers.org/clinvar/57589 ^@ GRCh38/hg38 12q21.31(chr12:80538484-80798086)x1 http://identifiers.org/clinvar/57590 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 http://identifiers.org/clinvar/57591 ^@ GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 http://identifiers.org/clinvar/57592 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 http://identifiers.org/clinvar/57593 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 http://identifiers.org/clinvar/57594 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 http://identifiers.org/clinvar/57595 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 http://identifiers.org/clinvar/57596 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 http://identifiers.org/clinvar/57597 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 http://identifiers.org/clinvar/57599 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28819080-30361669)x3 http://identifiers.org/clinvar/57600 ^@ GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3 http://identifiers.org/clinvar/57601 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28960914-30527462)x3 http://identifiers.org/clinvar/57602 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3 http://identifiers.org/clinvar/57603 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361474-32607498)x3 http://identifiers.org/clinvar/57604 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3 http://identifiers.org/clinvar/57605 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32146742)x3 http://identifiers.org/clinvar/57606 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30438110-32607498)x3 http://identifiers.org/clinvar/57607 ^@ GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1 http://identifiers.org/clinvar/57608 ^@ GRCh38/hg38 12q24.21(chr12:116093407-116167581)x1 http://identifiers.org/clinvar/57609 ^@ GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 http://identifiers.org/clinvar/57610 ^@ GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1 http://identifiers.org/clinvar/57611 ^@ GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1 http://identifiers.org/clinvar/57612 ^@ GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1 http://identifiers.org/clinvar/57613 ^@ GRCh38/hg38 12q24.33(chr12:131924544-133191400)x1 http://identifiers.org/clinvar/57614 ^@ GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1 http://identifiers.org/clinvar/57615 ^@ GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1 http://identifiers.org/clinvar/57616 ^@ GRCh38/hg38 13q12.11(chr13:20249154-20521759)x1 http://identifiers.org/clinvar/57617 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3 http://identifiers.org/clinvar/57618 ^@ GRCh38/hg38 15q13.1-13.2(chr15:28785312-30361733)x3 http://identifiers.org/clinvar/57619 ^@ GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 http://identifiers.org/clinvar/57620 ^@ GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3 http://identifiers.org/clinvar/57621 ^@ GRCh38/hg38 16p13.12-13.11(chr16:14668182-16493213)x3 http://identifiers.org/clinvar/57622 ^@ GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3 http://identifiers.org/clinvar/57623 ^@ GRCh38/hg38 16p13.12-13.11(chr16:14668382-16678513)x3 http://identifiers.org/clinvar/57624 ^@ GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3 http://identifiers.org/clinvar/57625 ^@ GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3 http://identifiers.org/clinvar/57626 ^@ GRCh38/hg38 16p13.11(chr16:14816148-16100862)x3 http://identifiers.org/clinvar/57627 ^@ GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1 http://identifiers.org/clinvar/57628 ^@ GRCh38/hg38 22q12.3(chr22:33757753-33862859)x1 http://identifiers.org/clinvar/57629 ^@ GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 http://identifiers.org/clinvar/57630 ^@ GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1 http://identifiers.org/clinvar/57631 ^@ GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1 http://identifiers.org/clinvar/57632 ^@ GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 http://identifiers.org/clinvar/57633 ^@ GRCh38/hg38 22q13.1(chr22:37994092-38066784)x1 http://identifiers.org/clinvar/57634 ^@ GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1 http://identifiers.org/clinvar/57635 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 http://identifiers.org/clinvar/57636 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 http://identifiers.org/clinvar/57637 ^@ GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1 http://identifiers.org/clinvar/57638 ^@ GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 http://identifiers.org/clinvar/57639 ^@ GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1 http://identifiers.org/clinvar/57640 ^@ GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1 http://identifiers.org/clinvar/57641 ^@ GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1 http://identifiers.org/clinvar/57642 ^@ GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1 http://identifiers.org/clinvar/57643 ^@ GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1 http://identifiers.org/clinvar/57644 ^@ GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1 http://identifiers.org/clinvar/57645 ^@ GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 http://identifiers.org/clinvar/57646 ^@ GRCh38/hg38 Xp22.33(chrX:2782275-2904175)x0 http://identifiers.org/clinvar/57647 ^@ GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x0 http://identifiers.org/clinvar/57648 ^@ GRCh38/hg38 Xp22.2(chrX:11803888-12169218)x1 http://identifiers.org/clinvar/57649 ^@ GRCh38/hg38 Xp22.13-22.12(chrX:18660565-19743908)x1 http://identifiers.org/clinvar/57650 ^@ GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0 http://identifiers.org/clinvar/57651 ^@ GRCh38/hg38 Xq12(chrX:66518184-66805174)x1 http://identifiers.org/clinvar/57652 ^@ GRCh38/hg38 16p13.11(chr16:14816148-16431632)x3 http://identifiers.org/clinvar/57653 ^@ GRCh38/hg38 Xq13.2(chrX:73835373-73839625)x1 http://identifiers.org/clinvar/57654 ^@ GRCh38/hg38 Xq21.1(chrX:79350406-79835322)x0 http://identifiers.org/clinvar/57655 ^@ GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3 http://identifiers.org/clinvar/57656 ^@ GRCh38/hg38 Xq21.31(chrX:88829694-89621356)x1 http://identifiers.org/clinvar/57657 ^@ GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3 http://identifiers.org/clinvar/57658 ^@ GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3 http://identifiers.org/clinvar/57659 ^@ GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3 http://identifiers.org/clinvar/57660 ^@ GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3 http://identifiers.org/clinvar/57661 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3 http://identifiers.org/clinvar/57662 ^@ GRCh38/hg38 3p26.3(chr3:996747-1824012)x3 http://identifiers.org/clinvar/57663 ^@ GRCh38/hg38 3p26.3(chr3:1155739-1984726)x3 http://identifiers.org/clinvar/57664 ^@ GRCh38/hg38 3p26.3(chr3:1823953-2644088)x3 http://identifiers.org/clinvar/57665 ^@ GRCh38/hg38 3p26.3(chr3:2021022-2529641)x3 http://identifiers.org/clinvar/57666 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2045327-3500081)x3 http://identifiers.org/clinvar/57667 ^@ GRCh38/hg38 3p26.3(chr3:2057253-2475366)x3 http://identifiers.org/clinvar/57668 ^@ GRCh38/hg38 3p26.3(chr3:2558754-2700464)x3 http://identifiers.org/clinvar/57669 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 http://identifiers.org/clinvar/57670 ^@ GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 http://identifiers.org/clinvar/57671 ^@ GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 http://identifiers.org/clinvar/57672 ^@ GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 http://identifiers.org/clinvar/57673 ^@ GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 http://identifiers.org/clinvar/57674 ^@ GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 http://identifiers.org/clinvar/57675 ^@ GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 http://identifiers.org/clinvar/57676 ^@ GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1 http://identifiers.org/clinvar/57677 ^@ GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 http://identifiers.org/clinvar/57678 ^@ GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 http://identifiers.org/clinvar/57679 ^@ GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 http://identifiers.org/clinvar/57680 ^@ GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 http://identifiers.org/clinvar/57681 ^@ GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1 http://identifiers.org/clinvar/57682 ^@ GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1 http://identifiers.org/clinvar/57683 ^@ GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 http://identifiers.org/clinvar/57684 ^@ GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 http://identifiers.org/clinvar/57685 ^@ GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 http://identifiers.org/clinvar/57686 ^@ GRCh38/hg38 Xq21.31(chrX:90075089-90598975)x1 http://identifiers.org/clinvar/57687 ^@ GRCh38/hg38 Xq22.1(chrX:102510903-102866851)x1 http://identifiers.org/clinvar/57688 ^@ GRCh38/hg38 Xq22.2(chrX:103630251-103712297)x1 http://identifiers.org/clinvar/57689 ^@ GRCh38/hg38 Xq25(chrX:124925327-126709707)x0 http://identifiers.org/clinvar/57690 ^@ GRCh38/hg38 Xq25(chrX:125868524-126259713)x0 http://identifiers.org/clinvar/57691 ^@ GRCh38/hg38 Xq28(chrX:149493233-149500929)x1 http://identifiers.org/clinvar/57692 ^@ GRCh38/hg38 Xq28(chrX:155828359-155979369)x0 http://identifiers.org/clinvar/57693 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2577647-3615783)x3 http://identifiers.org/clinvar/57694 ^@ GRCh38/hg38 3p26.1(chr3:7285435-7579379)x3 http://identifiers.org/clinvar/57695 ^@ GRCh38/hg38 3p26.1(chr3:7501915-7755807)x3 http://identifiers.org/clinvar/57696 ^@ GRCh38/hg38 3p26.1-25.3(chr3:7975734-9038133)x3 http://identifiers.org/clinvar/57697 ^@ GRCh38/hg38 3p26.1-25.3(chr3:8091665-8742586)x3 http://identifiers.org/clinvar/57698 ^@ GRCh38/hg38 3p25.2(chr3:12599858-12748947)x3 http://identifiers.org/clinvar/57699 ^@ GRCh38/hg38 3p25.2(chr3:12608508-12802654)x3 http://identifiers.org/clinvar/57700 ^@ GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3 http://identifiers.org/clinvar/57701 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 http://identifiers.org/clinvar/57702 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 http://identifiers.org/clinvar/57703 ^@ GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 http://identifiers.org/clinvar/57704 ^@ GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 http://identifiers.org/clinvar/57705 ^@ GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1 http://identifiers.org/clinvar/57706 ^@ GRCh38/hg38 22q13.33(chr22:50677679-50739836)x1 http://identifiers.org/clinvar/57707 ^@ GRCh38/hg38 22q13.33(chr22:50684863-50739977)x1 http://identifiers.org/clinvar/57708 ^@ GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 http://identifiers.org/clinvar/57709 ^@ GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 http://identifiers.org/clinvar/57710 ^@ GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 http://identifiers.org/clinvar/57711 ^@ GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 http://identifiers.org/clinvar/57712 ^@ GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1 http://identifiers.org/clinvar/57713 ^@ GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 http://identifiers.org/clinvar/57714 ^@ GRCh38/hg38 13q34(chr13:111541166-113671678)x1 http://identifiers.org/clinvar/57715 ^@ GRCh38/hg38 13q34(chr13:113084152-114327173)x1 http://identifiers.org/clinvar/57716 ^@ GRCh38/hg38 Yp11.2(chrY:4246296-5511861)x0 http://identifiers.org/clinvar/57717 ^@ GRCh38/hg38 Yq11.222(chrY:17473635-18640716)x0 http://identifiers.org/clinvar/57718 ^@ GRCh38/hg38 Yq11.223(chrY:22028149-22349485)x0 http://identifiers.org/clinvar/57719 ^@ GRCh38/hg38 1p36.23(chr1:7330680-7886654)x3 http://identifiers.org/clinvar/57720 ^@ GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3 http://identifiers.org/clinvar/57721 ^@ GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3 http://identifiers.org/clinvar/57722 ^@ GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3 http://identifiers.org/clinvar/57723 ^@ GRCh38/hg38 1p36.21(chr1:14750604-15281017)x3 http://identifiers.org/clinvar/57724 ^@ GRCh38/hg38 1p36.21(chr1:14750604-15319933)x3 http://identifiers.org/clinvar/57725 ^@ GRCh38/hg38 3p24.1(chr3:30623003-30656356)x3 http://identifiers.org/clinvar/57726 ^@ GRCh38/hg38 3p22.1(chr3:41880503-42550279)x3 http://identifiers.org/clinvar/57727 ^@ GRCh38/hg38 3p22.1(chr3:41896597-42336619)x3 http://identifiers.org/clinvar/57728 ^@ GRCh38/hg38 3p21.31(chr3:47867990-48259991)x3 http://identifiers.org/clinvar/57729 ^@ GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3 http://identifiers.org/clinvar/57730 ^@ GRCh38/hg38 3p14.3-14.2(chr3:58532827-60193441)x3 http://identifiers.org/clinvar/57731 ^@ GRCh38/hg38 3p14.2(chr3:59743673-60984329)x3 http://identifiers.org/clinvar/57732 ^@ GRCh38/hg38 3p14.1(chr3:65790274-66728325)x3 http://identifiers.org/clinvar/57733 ^@ GRCh38/hg38 3p12.3(chr3:74671601-75422736)x3 http://identifiers.org/clinvar/57734 ^@ GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1 http://identifiers.org/clinvar/57735 ^@ GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1 http://identifiers.org/clinvar/57736 ^@ GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1 http://identifiers.org/clinvar/57737 ^@ GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1 http://identifiers.org/clinvar/57738 ^@ GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1 http://identifiers.org/clinvar/57739 ^@ GRCh38/hg38 3p26.1-25.3(chr3:7400936-9450451)x1 http://identifiers.org/clinvar/57740 ^@ GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 http://identifiers.org/clinvar/57741 ^@ GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1 http://identifiers.org/clinvar/57742 ^@ GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1 http://identifiers.org/clinvar/57743 ^@ GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 http://identifiers.org/clinvar/57744 ^@ GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 http://identifiers.org/clinvar/57745 ^@ GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 http://identifiers.org/clinvar/57746 ^@ GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1 http://identifiers.org/clinvar/57747 ^@ GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1 http://identifiers.org/clinvar/57748 ^@ GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1 http://identifiers.org/clinvar/57749 ^@ GRCh38/hg38 14q11.2(chr14:21408814-21517190)x1 http://identifiers.org/clinvar/57750 ^@ GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 http://identifiers.org/clinvar/57751 ^@ GRCh38/hg38 14q12(chr14:27798530-28735673)x1 http://identifiers.org/clinvar/57752 ^@ GRCh38/hg38 14q13.1-13.3(chr14:34450934-36880151)x1 http://identifiers.org/clinvar/57753 ^@ GRCh38/hg38 1p35.3(chr1:27952842-28193956)x3 http://identifiers.org/clinvar/57754 ^@ GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3 http://identifiers.org/clinvar/57755 ^@ GRCh38/hg38 1p32.2(chr1:57536618-58204064)x3 http://identifiers.org/clinvar/57756 ^@ GRCh38/hg38 1p31.1(chr1:81436935-82241760)x3 http://identifiers.org/clinvar/57757 ^@ GRCh38/hg38 3p12.3(chr3:78221882-79465461)x3 http://identifiers.org/clinvar/57758 ^@ GRCh38/hg38 3p12.2(chr3:80263433-83366209)x3 http://identifiers.org/clinvar/57759 ^@ GRCh38/hg38 3p12.2-11.2(chr3:80320584-87468216)x3 http://identifiers.org/clinvar/57760 ^@ GRCh38/hg38 3p12.1(chr3:85269738-86273143)x3 http://identifiers.org/clinvar/57761 ^@ GRCh38/hg38 3p12.1(chr3:85774706-86793566)x3 http://identifiers.org/clinvar/57762 ^@ GRCh38/hg38 3p11.1(chr3:89499290-90255691)x3 http://identifiers.org/clinvar/57763 ^@ GRCh38/hg38 3q11.2(chr3:95446191-96138545)x3 http://identifiers.org/clinvar/57764 ^@ GRCh38/hg38 3q12.1(chr3:99118476-99621693)x3 http://identifiers.org/clinvar/57765 ^@ GRCh38/hg38 3q13.31(chr3:114530663-115439099)x3 http://identifiers.org/clinvar/57766 ^@ GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 http://identifiers.org/clinvar/57767 ^@ GRCh38/hg38 3p24.3(chr3:18179713-22678013)x1 http://identifiers.org/clinvar/57768 ^@ GRCh38/hg38 3p24.3-24.2(chr3:20054451-23858736)x1 http://identifiers.org/clinvar/57769 ^@ GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1 http://identifiers.org/clinvar/57770 ^@ GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1 http://identifiers.org/clinvar/57771 ^@ GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 http://identifiers.org/clinvar/57772 ^@ GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1 http://identifiers.org/clinvar/57773 ^@ GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1 http://identifiers.org/clinvar/57774 ^@ GRCh38/hg38 14q13.2(chr14:35696014-36030164)x1 http://identifiers.org/clinvar/57775 ^@ GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1 http://identifiers.org/clinvar/57776 ^@ GRCh38/hg38 14q13.3-21.1(chr14:37121338-37866986)x1 http://identifiers.org/clinvar/57777 ^@ GRCh38/hg38 14q21.1(chr14:37646644-38725434)x1 http://identifiers.org/clinvar/57778 ^@ GRCh38/hg38 14q21.1(chr14:38817817-40894390)x1 http://identifiers.org/clinvar/57779 ^@ GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1 http://identifiers.org/clinvar/57780 ^@ GRCh38/hg38 14q22.2(chr14:54741452-54920248)x1 http://identifiers.org/clinvar/57781 ^@ GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 http://identifiers.org/clinvar/57782 ^@ GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1 http://identifiers.org/clinvar/57783 ^@ GRCh38/hg38 14q23.1(chr14:58680457-59394168)x1 http://identifiers.org/clinvar/57784 ^@ GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3 http://identifiers.org/clinvar/57785 ^@ GRCh38/hg38 1p22.1(chr1:92807868-92842656)x3 http://identifiers.org/clinvar/57786 ^@ GRCh38/hg38 1p21.3(chr1:96991619-97565945)x3 http://identifiers.org/clinvar/57787 ^@ GRCh38/hg38 1p21.3(chr1:97417705-97919058)x3 http://identifiers.org/clinvar/57788 ^@ GRCh38/hg38 1p13.3(chr1:107042518-107326708)x3 http://identifiers.org/clinvar/57789 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 http://identifiers.org/clinvar/57790 ^@ GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 http://identifiers.org/clinvar/57791 ^@ GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3 http://identifiers.org/clinvar/57792 ^@ GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3 http://identifiers.org/clinvar/57793 ^@ GRCh38/hg38 3q22.1(chr3:132662034-133263499)x3 http://identifiers.org/clinvar/57794 ^@ GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3 http://identifiers.org/clinvar/57795 ^@ GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3 http://identifiers.org/clinvar/57796 ^@ GRCh38/hg38 3q23(chr3:139525129-140095577)x3 http://identifiers.org/clinvar/57797 ^@ GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3 http://identifiers.org/clinvar/57798 ^@ GRCh38/hg38 3q25.33-26.1(chr3:159748682-161533654)x3 http://identifiers.org/clinvar/57799 ^@ GRCh38/hg38 3q26.1(chr3:161083963-163114311)x3 http://identifiers.org/clinvar/57800 ^@ GRCh38/hg38 3p12.3-12.2(chr3:79595164-81258230)x1 http://identifiers.org/clinvar/57801 ^@ GRCh38/hg38 3p12.2-12.1(chr3:81504313-85127899)x1 http://identifiers.org/clinvar/57802 ^@ GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1 http://identifiers.org/clinvar/57803 ^@ GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 http://identifiers.org/clinvar/57804 ^@ GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 http://identifiers.org/clinvar/57805 ^@ GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 http://identifiers.org/clinvar/57806 ^@ GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 http://identifiers.org/clinvar/57807 ^@ GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1 http://identifiers.org/clinvar/57808 ^@ GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 http://identifiers.org/clinvar/57809 ^@ GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1 http://identifiers.org/clinvar/57810 ^@ GRCh38/hg38 14q31.1(chr14:79303314-79461926)x1 http://identifiers.org/clinvar/57811 ^@ GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 http://identifiers.org/clinvar/57812 ^@ GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1 http://identifiers.org/clinvar/57813 ^@ GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 http://identifiers.org/clinvar/57814 ^@ GRCh38/hg38 1q22-23.1(chr1:156593261-156653428)x3 http://identifiers.org/clinvar/57815 ^@ GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3 http://identifiers.org/clinvar/57816 ^@ GRCh38/hg38 1q23.3(chr1:161513195-161671153)x3 http://identifiers.org/clinvar/57817 ^@ GRCh38/hg38 1q25.3(chr1:183828804-184670837)x3 http://identifiers.org/clinvar/57818 ^@ GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3 http://identifiers.org/clinvar/57819 ^@ GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3 http://identifiers.org/clinvar/57820 ^@ GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3 http://identifiers.org/clinvar/57821 ^@ GRCh38/hg38 3q26.1-26.2(chr3:166681145-168482463)x3 http://identifiers.org/clinvar/57822 ^@ GRCh38/hg38 3q28(chr3:190233992-190498928)x3 http://identifiers.org/clinvar/57823 ^@ GRCh38/hg38 4p16.3(chr4:72555-1405362)x3 http://identifiers.org/clinvar/57824 ^@ GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3 http://identifiers.org/clinvar/57825 ^@ GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3 http://identifiers.org/clinvar/57826 ^@ GRCh38/hg38 4p16.2(chr4:4791822-5811236)x3 http://identifiers.org/clinvar/57827 ^@ GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3 http://identifiers.org/clinvar/57828 ^@ GRCh38/hg38 4p15.1(chr4:32718368-33390760)x3 http://identifiers.org/clinvar/57829 ^@ GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 http://identifiers.org/clinvar/57830 ^@ GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 http://identifiers.org/clinvar/57831 ^@ GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1 http://identifiers.org/clinvar/57832 ^@ GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 http://identifiers.org/clinvar/57833 ^@ GRCh38/hg38 3q22.3(chr3:138945182-138946841)x1 http://identifiers.org/clinvar/57834 ^@ GRCh38/hg38 3q23(chr3:140069651-141507894)x1 http://identifiers.org/clinvar/57835 ^@ GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1 http://identifiers.org/clinvar/57836 ^@ GRCh38/hg38 3q24(chr3:144319831-146552546)x1 http://identifiers.org/clinvar/57837 ^@ GRCh38/hg38 3q25.1-25.2(chr3:151142354-154931417)x1 http://identifiers.org/clinvar/57838 ^@ GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 http://identifiers.org/clinvar/57839 ^@ GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 http://identifiers.org/clinvar/57840 ^@ GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 http://identifiers.org/clinvar/57841 ^@ GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 http://identifiers.org/clinvar/57842 ^@ GRCh38/hg38 15q11.2(chr15:24873776-24921819)x1 http://identifiers.org/clinvar/57843 ^@ GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 http://identifiers.org/clinvar/57844 ^@ GRCh38/hg38 15q11.2-12(chr15:25414685-25505084)x1 http://identifiers.org/clinvar/57845 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1 http://identifiers.org/clinvar/57846 ^@ GRCh38/hg38 1q42.3(chr1:235800132-236344006)x3 http://identifiers.org/clinvar/57847 ^@ GRCh38/hg38 1q43(chr1:239631841-242609012)x3 http://identifiers.org/clinvar/57848 ^@ GRCh38/hg38 1q43(chr1:240553438-242475553)x3 http://identifiers.org/clinvar/57849 ^@ GRCh38/hg38 1q43(chr1:241358731-241676967)x3 http://identifiers.org/clinvar/57850 ^@ GRCh38/hg38 1q44(chr1:246031245-247245758)x3 http://identifiers.org/clinvar/57851 ^@ GRCh38/hg38 10p15.3(chr10:180143-550594)x3 http://identifiers.org/clinvar/57852 ^@ GRCh38/hg38 10p15.3(chr10:248232-587589)x3 http://identifiers.org/clinvar/57853 ^@ GRCh38/hg38 10p15.3(chr10:730608-1358880)x3 http://identifiers.org/clinvar/57854 ^@ GRCh38/hg38 10p15.3(chr10:899498-1687440)x3 http://identifiers.org/clinvar/57855 ^@ GRCh38/hg38 10p13(chr10:12377967-12692594)x3 http://identifiers.org/clinvar/57856 ^@ GRCh38/hg38 4p14(chr4:38015168-38397834)x3 http://identifiers.org/clinvar/57857 ^@ GRCh38/hg38 4p14(chr4:39571714-40297938)x3 http://identifiers.org/clinvar/57858 ^@ GRCh38/hg38 4q12(chr4:56301201-56829410)x3 http://identifiers.org/clinvar/57860 ^@ GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3 http://identifiers.org/clinvar/57861 ^@ GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3 http://identifiers.org/clinvar/57862 ^@ GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3 http://identifiers.org/clinvar/57863 ^@ GRCh38/hg38 4q13.3(chr4:73510905-73978175)x3 http://identifiers.org/clinvar/57864 ^@ GRCh38/hg38 4q22.1(chr4:91409940-92438832)x3 http://identifiers.org/clinvar/57865 ^@ GRCh38/hg38 3q26.33(chr3:181504586-182287821)x1 http://identifiers.org/clinvar/57866 ^@ GRCh38/hg38 3q26.33(chr3:181710887-181748657)x1 http://identifiers.org/clinvar/57867 ^@ GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 http://identifiers.org/clinvar/57868 ^@ GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 http://identifiers.org/clinvar/57869 ^@ GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 http://identifiers.org/clinvar/57870 ^@ GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 http://identifiers.org/clinvar/57871 ^@ GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1 http://identifiers.org/clinvar/57872 ^@ GRCh38/hg38 3q28(chr3:188362559-189767088)x1 http://identifiers.org/clinvar/57873 ^@ GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 http://identifiers.org/clinvar/57874 ^@ GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 http://identifiers.org/clinvar/57875 ^@ GRCh38/hg38 15q13.3(chr15:31806467-32343758)x1 http://identifiers.org/clinvar/57876 ^@ GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1 http://identifiers.org/clinvar/57877 ^@ GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 http://identifiers.org/clinvar/57878 ^@ GRCh38/hg38 15q14(chr15:34588015-39280404)x1 http://identifiers.org/clinvar/57879 ^@ GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 http://identifiers.org/clinvar/57880 ^@ GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 http://identifiers.org/clinvar/57881 ^@ GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 http://identifiers.org/clinvar/57882 ^@ GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1 http://identifiers.org/clinvar/57883 ^@ GRCh38/hg38 10p13(chr10:15680938-16480748)x3 http://identifiers.org/clinvar/57884 ^@ GRCh38/hg38 10p12.33-12.31(chr10:18289967-19647340)x3 http://identifiers.org/clinvar/57885 ^@ GRCh38/hg38 10p12.31(chr10:20776151-21435636)x3 http://identifiers.org/clinvar/57886 ^@ GRCh38/hg38 10q11.23-21.1(chr10:50348996-51509503)x3 http://identifiers.org/clinvar/57887 ^@ GRCh38/hg38 10q21.1(chr10:53477144-54916701)x3 http://identifiers.org/clinvar/57888 ^@ GRCh38/hg38 10q22.3(chr10:77791298-78077947)x3 http://identifiers.org/clinvar/57889 ^@ GRCh38/hg38 10q23.1(chr10:82081625-83870328)x3 http://identifiers.org/clinvar/57890 ^@ GRCh38/hg38 10q23.1(chr10:82794503-84537954)x3 http://identifiers.org/clinvar/57891 ^@ GRCh38/hg38 4q22.1(chr4:91475388-92438832)x3 http://identifiers.org/clinvar/57892 ^@ GRCh38/hg38 4q23(chr4:97972342-100038125)x3 http://identifiers.org/clinvar/57893 ^@ GRCh38/hg38 4q25(chr4:109800241-109990141)x3 http://identifiers.org/clinvar/57894 ^@ GRCh38/hg38 4q27(chr4:121636147-122327601)x3 http://identifiers.org/clinvar/57895 ^@ GRCh38/hg38 4q31.23(chr4:149956405-150119840)x3 http://identifiers.org/clinvar/57896 ^@ GRCh38/hg38 4q31.3(chr4:150703713-151282758)x3 http://identifiers.org/clinvar/57897 ^@ GRCh38/hg38 4q34.3(chr4:180640951-181159086)x3 http://identifiers.org/clinvar/57898 ^@ GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 http://identifiers.org/clinvar/57899 ^@ GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 http://identifiers.org/clinvar/57900 ^@ GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 http://identifiers.org/clinvar/57901 ^@ GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 http://identifiers.org/clinvar/57902 ^@ GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 http://identifiers.org/clinvar/57903 ^@ GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 http://identifiers.org/clinvar/57904 ^@ GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 http://identifiers.org/clinvar/57905 ^@ GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 http://identifiers.org/clinvar/57906 ^@ GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 http://identifiers.org/clinvar/57907 ^@ GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3 http://identifiers.org/clinvar/57908 ^@ GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3 http://identifiers.org/clinvar/57909 ^@ GRCh38/hg38 10q24.32(chr10:101599084-101689575)x3 http://identifiers.org/clinvar/57910 ^@ GRCh38/hg38 10q25.1(chr10:106726001-107839629)x3 http://identifiers.org/clinvar/57911 ^@ GRCh38/hg38 10q26.11(chr10:118832386-119400019)x3 http://identifiers.org/clinvar/57912 ^@ GRCh38/hg38 10q26.13(chr10:123232051-124032947)x3 http://identifiers.org/clinvar/57913 ^@ GRCh38/hg38 10q26.2(chr10:127435985-127992839)x3 http://identifiers.org/clinvar/57914 ^@ GRCh38/hg38 10q26.2-26.3(chr10:127852284-129780378)x3 http://identifiers.org/clinvar/57915 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3 http://identifiers.org/clinvar/57916 ^@ GRCh38/hg38 4q35.2(chr4:188165012-190042639)x3 http://identifiers.org/clinvar/57917 ^@ GRCh38/hg38 4q35.2(chr4:188324612-189885079)x3 http://identifiers.org/clinvar/57918 ^@ GRCh38/hg38 4q35.2(chr4:189046895-189975660)x3 http://identifiers.org/clinvar/57919 ^@ GRCh38/hg38 5p15.33(chr5:316478-937457)x3 http://identifiers.org/clinvar/57920 ^@ GRCh38/hg38 5p15.31(chr5:9146394-9413261)x3 http://identifiers.org/clinvar/57921 ^@ GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 http://identifiers.org/clinvar/57922 ^@ GRCh38/hg38 Xp11.22(chrX:53375808-53415949)x1 http://identifiers.org/clinvar/57923 ^@ GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 http://identifiers.org/clinvar/57924 ^@ GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 http://identifiers.org/clinvar/57925 ^@ GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1 http://identifiers.org/clinvar/57926 ^@ GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 http://identifiers.org/clinvar/57927 ^@ GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 http://identifiers.org/clinvar/57928 ^@ GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1 http://identifiers.org/clinvar/57929 ^@ GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 http://identifiers.org/clinvar/57930 ^@ GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 http://identifiers.org/clinvar/57931 ^@ GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1 http://identifiers.org/clinvar/57932 ^@ GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 http://identifiers.org/clinvar/57933 ^@ GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 http://identifiers.org/clinvar/57934 ^@ GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 http://identifiers.org/clinvar/57935 ^@ GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 http://identifiers.org/clinvar/57936 ^@ GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 http://identifiers.org/clinvar/57937 ^@ GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 http://identifiers.org/clinvar/57938 ^@ GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 http://identifiers.org/clinvar/57939 ^@ GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 http://identifiers.org/clinvar/57940 ^@ GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 http://identifiers.org/clinvar/57941 ^@ GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3 http://identifiers.org/clinvar/57942 ^@ GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 http://identifiers.org/clinvar/57943 ^@ GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 http://identifiers.org/clinvar/57944 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 http://identifiers.org/clinvar/57945 ^@ GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 http://identifiers.org/clinvar/57946 ^@ GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 http://identifiers.org/clinvar/57947 ^@ GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 http://identifiers.org/clinvar/57948 ^@ GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 http://identifiers.org/clinvar/57949 ^@ GRCh38/hg38 10q26.3(chr10:131457361-131971639)x3 http://identifiers.org/clinvar/57950 ^@ GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3 http://identifiers.org/clinvar/57951 ^@ GRCh38/hg38 11p15.5(chr11:196966-251588)x3 http://identifiers.org/clinvar/57952 ^@ GRCh38/hg38 11p15.5-15.4(chr11:2521466-2891378)x3 http://identifiers.org/clinvar/57953 ^@ GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3 http://identifiers.org/clinvar/57954 ^@ GRCh38/hg38 11p15.2(chr11:14924804-15253488)x3 http://identifiers.org/clinvar/57955 ^@ GRCh38/hg38 11p15.1-14.3(chr11:21948209-22239692)x3 http://identifiers.org/clinvar/57956 ^@ GRCh38/hg38 5p15.2(chr5:13829252-14168792)x3 http://identifiers.org/clinvar/57957 ^@ GRCh38/hg38 5p15.2(chr5:13846935-14080008)x3 http://identifiers.org/clinvar/57958 ^@ GRCh38/hg38 5p15.2-15.1(chr5:14859578-15364361)x3 http://identifiers.org/clinvar/57959 ^@ GRCh38/hg38 5p15.1(chr5:15151553-15851376)x3 http://identifiers.org/clinvar/57960 ^@ GRCh38/hg38 5p14.3(chr5:18996686-20049802)x3 http://identifiers.org/clinvar/57961 ^@ GRCh38/hg38 5p14.3(chr5:19857388-20747378)x3 http://identifiers.org/clinvar/57962 ^@ GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3 http://identifiers.org/clinvar/57963 ^@ GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3 http://identifiers.org/clinvar/57964 ^@ GRCh38/hg38 5p13.2(chr5:37157004-37571897)x3 http://identifiers.org/clinvar/57965 ^@ GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1 http://identifiers.org/clinvar/57966 ^@ GRCh38/hg38 5p12-11(chr5:45506234-46114984)x3 http://identifiers.org/clinvar/57967 ^@ GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0 http://identifiers.org/clinvar/57968 ^@ GRCh38/hg38 Xq21.1(chrX:82075288-83982093)x0 http://identifiers.org/clinvar/57969 ^@ GRCh38/hg38 Xq21.31-21.32(chrX:91212699-94171410)x0 http://identifiers.org/clinvar/57970 ^@ GRCh38/hg38 Xq21.33-22.1(chrX:97610521-100562572)x1 http://identifiers.org/clinvar/57971 ^@ GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 http://identifiers.org/clinvar/57972 ^@ GRCh38/hg38 Xq22.1(chrX:101323599-101596196)x1 http://identifiers.org/clinvar/57973 ^@ GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1 http://identifiers.org/clinvar/57974 ^@ GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 http://identifiers.org/clinvar/57975 ^@ GRCh38/hg38 Xq22.2-22.3(chrX:103350604-104513304)x0 http://identifiers.org/clinvar/57976 ^@ GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 http://identifiers.org/clinvar/57977 ^@ GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 http://identifiers.org/clinvar/57978 ^@ GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 http://identifiers.org/clinvar/57979 ^@ GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3 http://identifiers.org/clinvar/57980 ^@ GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 http://identifiers.org/clinvar/57981 ^@ GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 http://identifiers.org/clinvar/57982 ^@ GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 http://identifiers.org/clinvar/57983 ^@ GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 http://identifiers.org/clinvar/57984 ^@ GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 http://identifiers.org/clinvar/57985 ^@ GRCh38/hg38 Xq23(chrX:110192980-110500458)x0 http://identifiers.org/clinvar/57986 ^@ GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 http://identifiers.org/clinvar/57987 ^@ GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 http://identifiers.org/clinvar/57988 ^@ GRCh38/hg38 Xq26.1-26.2(chrX:131042072-131826589)x1 http://identifiers.org/clinvar/57989 ^@ GRCh38/hg38 Xq26.3(chrX:136121668-136310367)x1 http://identifiers.org/clinvar/57990 ^@ GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 http://identifiers.org/clinvar/57991 ^@ GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 http://identifiers.org/clinvar/57992 ^@ GRCh38/hg38 Xq27.1(chrX:139333024-140959375)x0 http://identifiers.org/clinvar/57993 ^@ GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 http://identifiers.org/clinvar/57994 ^@ GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 http://identifiers.org/clinvar/57995 ^@ GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3 http://identifiers.org/clinvar/57996 ^@ GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 http://identifiers.org/clinvar/57997 ^@ GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 http://identifiers.org/clinvar/57998 ^@ GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 http://identifiers.org/clinvar/57999 ^@ GRCh38/hg38 3q29(chr3:193917490-198110319)x3 http://identifiers.org/clinvar/58000 ^@ GRCh38/hg38 3q29(chr3:194424496-198168758)x3 http://identifiers.org/clinvar/58001 ^@ GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 http://identifiers.org/clinvar/58002 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:139928002-141840850)x0 http://identifiers.org/clinvar/58003 ^@ GRCh38/hg38 Xq27.1-28(chrX:140422829-148166315)x0 http://identifiers.org/clinvar/58004 ^@ GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 http://identifiers.org/clinvar/58005 ^@ GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 http://identifiers.org/clinvar/58006 ^@ GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1 http://identifiers.org/clinvar/58007 ^@ GRCh38/hg38 Xq28(chrX:149429424-149617725)x0 http://identifiers.org/clinvar/58008 ^@ GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 http://identifiers.org/clinvar/58009 ^@ GRCh38/hg38 Xq28(chrX:153667032-153817949)x0 http://identifiers.org/clinvar/58010 ^@ GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 http://identifiers.org/clinvar/58011 ^@ GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 http://identifiers.org/clinvar/58012 ^@ GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 http://identifiers.org/clinvar/58013 ^@ GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 http://identifiers.org/clinvar/58014 ^@ GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 http://identifiers.org/clinvar/58015 ^@ GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 http://identifiers.org/clinvar/58016 ^@ GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 http://identifiers.org/clinvar/58017 ^@ GRCh38/hg38 4p16.1(chr4:9946194-10938417)x3 http://identifiers.org/clinvar/58018 ^@ GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 http://identifiers.org/clinvar/58019 ^@ GRCh38/hg38 Xq28(chrX:154897608-155335682)x1 http://identifiers.org/clinvar/58020 ^@ GRCh38/hg38 Xq28(chrX:154984506-155098444)x0 http://identifiers.org/clinvar/58021 ^@ GRCh38/hg38 Yp11.32-11.31(chrY:10679-309069)x0 http://identifiers.org/clinvar/58022 ^@ GRCh38/hg38 Yp11.32-11.2(chrY:10679-1127669)x0 http://identifiers.org/clinvar/58023 ^@ GRCh38/hg38 Yp11.2(chrY:2210832-2525377)x0 http://identifiers.org/clinvar/58024 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26389995)x0 http://identifiers.org/clinvar/58025 ^@ GRCh38/hg38 Yq11.221-12(chrY:12586822-57208726)x0 http://identifiers.org/clinvar/58026 ^@ GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3 http://identifiers.org/clinvar/58027 ^@ GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3 http://identifiers.org/clinvar/58028 ^@ GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3 http://identifiers.org/clinvar/58029 ^@ GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 http://identifiers.org/clinvar/58030 ^@ GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3 http://identifiers.org/clinvar/58031 ^@ GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 http://identifiers.org/clinvar/58032 ^@ GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 http://identifiers.org/clinvar/58033 ^@ GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 http://identifiers.org/clinvar/58034 ^@ GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 http://identifiers.org/clinvar/58036 ^@ GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 http://identifiers.org/clinvar/58037 ^@ GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 http://identifiers.org/clinvar/58038 ^@ GRCh38/hg38 1p36.33(chr1:832679-1254039)x3 http://identifiers.org/clinvar/58039 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 http://identifiers.org/clinvar/58040 ^@ GRCh38/hg38 1p36.32(chr1:2659405-3273322)x3 http://identifiers.org/clinvar/58041 ^@ GRCh38/hg38 1p36.32-36.31(chr1:4799319-6129675)x3 http://identifiers.org/clinvar/58042 ^@ GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 http://identifiers.org/clinvar/58043 ^@ GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 http://identifiers.org/clinvar/58044 ^@ GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3 http://identifiers.org/clinvar/58045 ^@ GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 http://identifiers.org/clinvar/58046 ^@ GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 http://identifiers.org/clinvar/58047 ^@ GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3 http://identifiers.org/clinvar/58048 ^@ GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3 http://identifiers.org/clinvar/58049 ^@ GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 http://identifiers.org/clinvar/58050 ^@ GRCh38/hg38 4q34.1-34.3(chr4:171507504-181381327)x3 http://identifiers.org/clinvar/58051 ^@ GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 http://identifiers.org/clinvar/58052 ^@ GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 http://identifiers.org/clinvar/58053 ^@ GRCh38/hg38 1p36.22-36.21(chr1:12149586-13111056)x3 http://identifiers.org/clinvar/58054 ^@ GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 http://identifiers.org/clinvar/58055 ^@ GRCh38/hg38 1p36.21(chr1:13455700-13808184)x3 http://identifiers.org/clinvar/58056 ^@ GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 http://identifiers.org/clinvar/58057 ^@ GRCh38/hg38 1p36.12(chr1:21341595-21861116)x3 http://identifiers.org/clinvar/58058 ^@ GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3 http://identifiers.org/clinvar/58059 ^@ GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3 http://identifiers.org/clinvar/58060 ^@ GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 http://identifiers.org/clinvar/58061 ^@ GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 http://identifiers.org/clinvar/58062 ^@ GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 http://identifiers.org/clinvar/58063 ^@ GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3 http://identifiers.org/clinvar/58064 ^@ GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 http://identifiers.org/clinvar/58065 ^@ GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 http://identifiers.org/clinvar/58066 ^@ GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 http://identifiers.org/clinvar/58067 ^@ GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 http://identifiers.org/clinvar/58068 ^@ GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 http://identifiers.org/clinvar/58069 ^@ GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3 http://identifiers.org/clinvar/58070 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 http://identifiers.org/clinvar/58071 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 http://identifiers.org/clinvar/58072 ^@ GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3 http://identifiers.org/clinvar/58073 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 http://identifiers.org/clinvar/58074 ^@ GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 http://identifiers.org/clinvar/58075 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 http://identifiers.org/clinvar/58076 ^@ GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 http://identifiers.org/clinvar/58077 ^@ GRCh38/hg38 15q11.2-13.1(chr15:24780911-29668996)x3 http://identifiers.org/clinvar/58078 ^@ GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 http://identifiers.org/clinvar/58079 ^@ GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 http://identifiers.org/clinvar/58080 ^@ GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3 http://identifiers.org/clinvar/58081 ^@ GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 http://identifiers.org/clinvar/58082 ^@ GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 http://identifiers.org/clinvar/58083 ^@ GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3 http://identifiers.org/clinvar/58084 ^@ GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 http://identifiers.org/clinvar/58085 ^@ GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 http://identifiers.org/clinvar/58086 ^@ GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 http://identifiers.org/clinvar/58087 ^@ GRCh38/hg38 1p12-q21.2(chr1:121086594-144935242)x3 http://identifiers.org/clinvar/58088 ^@ GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 http://identifiers.org/clinvar/58089 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 http://identifiers.org/clinvar/58090 ^@ GRCh38/hg38 5p14.3-14.2(chr5:22047370-23432978)x3 http://identifiers.org/clinvar/58091 ^@ GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 http://identifiers.org/clinvar/58092 ^@ GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 http://identifiers.org/clinvar/58093 ^@ GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 http://identifiers.org/clinvar/58094 ^@ GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 http://identifiers.org/clinvar/58095 ^@ GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 http://identifiers.org/clinvar/58096 ^@ GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 http://identifiers.org/clinvar/58097 ^@ GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3 http://identifiers.org/clinvar/58098 ^@ GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3 http://identifiers.org/clinvar/58099 ^@ GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 http://identifiers.org/clinvar/58100 ^@ GRCh38/hg38 17p12(chr17:14126296-15659587)x3 http://identifiers.org/clinvar/58101 ^@ GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 http://identifiers.org/clinvar/58102 ^@ GRCh38/hg38 17p12(chr17:14186983-15578926)x3 http://identifiers.org/clinvar/58103 ^@ GRCh38/hg38 17p12(chr17:14186983-15563870)x3 http://identifiers.org/clinvar/58104 ^@ GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 http://identifiers.org/clinvar/58105 ^@ GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 http://identifiers.org/clinvar/58106 ^@ GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 http://identifiers.org/clinvar/58107 ^@ GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 http://identifiers.org/clinvar/58108 ^@ GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 http://identifiers.org/clinvar/58109 ^@ GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 http://identifiers.org/clinvar/58110 ^@ GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 http://identifiers.org/clinvar/58111 ^@ GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 http://identifiers.org/clinvar/58112 ^@ GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 http://identifiers.org/clinvar/58113 ^@ GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 http://identifiers.org/clinvar/58114 ^@ GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 http://identifiers.org/clinvar/58115 ^@ GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 http://identifiers.org/clinvar/58116 ^@ GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 http://identifiers.org/clinvar/58117 ^@ GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3 http://identifiers.org/clinvar/58118 ^@ GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 http://identifiers.org/clinvar/58119 ^@ GRCh38/hg38 5q32(chr5:150368321-150396843)x3 http://identifiers.org/clinvar/58120 ^@ GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 http://identifiers.org/clinvar/58121 ^@ GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 http://identifiers.org/clinvar/58122 ^@ GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 http://identifiers.org/clinvar/58123 ^@ GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 http://identifiers.org/clinvar/58124 ^@ GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 http://identifiers.org/clinvar/58125 ^@ GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3 http://identifiers.org/clinvar/58126 ^@ GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 http://identifiers.org/clinvar/58127 ^@ GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 http://identifiers.org/clinvar/58128 ^@ GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 http://identifiers.org/clinvar/58129 ^@ GRCh38/hg38 1q41(chr1:215447347-221971832)x3 http://identifiers.org/clinvar/58130 ^@ GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 http://identifiers.org/clinvar/58131 ^@ GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 http://identifiers.org/clinvar/58132 ^@ GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 http://identifiers.org/clinvar/58133 ^@ GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 http://identifiers.org/clinvar/58134 ^@ GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 http://identifiers.org/clinvar/58135 ^@ GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 http://identifiers.org/clinvar/58136 ^@ GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3 http://identifiers.org/clinvar/58137 ^@ GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 http://identifiers.org/clinvar/58138 ^@ GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 http://identifiers.org/clinvar/58139 ^@ GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3 http://identifiers.org/clinvar/58140 ^@ GRCh38/hg38 1q43(chr1:237255048-239452455)x3 http://identifiers.org/clinvar/58141 ^@ GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 http://identifiers.org/clinvar/58142 ^@ GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 http://identifiers.org/clinvar/58143 ^@ GRCh38/hg38 13q12.13(chr13:25779197-25998883)x1 http://identifiers.org/clinvar/58144 ^@ GRCh38/hg38 13q12.3(chr13:30336888-30830135)x1 http://identifiers.org/clinvar/58145 ^@ GRCh38/hg38 13q13.1(chr13:33018055-33389580)x1 http://identifiers.org/clinvar/58146 ^@ GRCh38/hg38 13q21.32(chr13:66552004-67123174)x1 http://identifiers.org/clinvar/58147 ^@ GRCh38/hg38 13q21.33(chr13:69936164-70206329)x1 http://identifiers.org/clinvar/58148 ^@ GRCh38/hg38 13q31.1(chr13:80001586-82838129)x1 http://identifiers.org/clinvar/58149 ^@ GRCh38/hg38 13q31.1(chr13:82224001-83303969)x1 http://identifiers.org/clinvar/58150 ^@ GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 http://identifiers.org/clinvar/58151 ^@ GRCh38/hg38 6p24.1-22.3(chr6:13093117-22126024)x3 http://identifiers.org/clinvar/58152 ^@ GRCh38/hg38 13q31.2-31.3(chr13:88823852-90575292)x1 http://identifiers.org/clinvar/58153 ^@ GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3 http://identifiers.org/clinvar/58154 ^@ GRCh38/hg38 6q23.3(chr6:135522003-135710443)x3 http://identifiers.org/clinvar/58155 ^@ GRCh38/hg38 6q23.3(chr6:136745817-136859553)x3 http://identifiers.org/clinvar/58156 ^@ GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 http://identifiers.org/clinvar/58157 ^@ GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3 http://identifiers.org/clinvar/58158 ^@ GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 http://identifiers.org/clinvar/58159 ^@ GRCh38/hg38 11p12(chr11:39264515-40780036)x3 http://identifiers.org/clinvar/58160 ^@ GRCh38/hg38 11p11.2(chr11:45272625-45532378)x3 http://identifiers.org/clinvar/58161 ^@ GRCh38/hg38 11p11.2(chr11:47743903-48643003)x3 http://identifiers.org/clinvar/58162 ^@ GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3 http://identifiers.org/clinvar/58163 ^@ GRCh38/hg38 11q13.1(chr11:65881597-65893890)x3 http://identifiers.org/clinvar/58164 ^@ GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 http://identifiers.org/clinvar/58165 ^@ GRCh38/hg38 11q13.4(chr11:73403238-73935284)x3 http://identifiers.org/clinvar/58166 ^@ GRCh38/hg38 17q12(chr17:36180741-38169599)x3 http://identifiers.org/clinvar/58167 ^@ NR_036056.1(MIR2909):n.(?_-853004)_(1135855_?)dup http://identifiers.org/clinvar/58168 ^@ GRCh38/hg38 17q12(chr17:36566143-37849604)x3 http://identifiers.org/clinvar/58169 ^@ GRCh38/hg38 17q12(chr17:36566143-37814129)x3 http://identifiers.org/clinvar/58170 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3 http://identifiers.org/clinvar/58171 ^@ GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 http://identifiers.org/clinvar/58172 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 http://identifiers.org/clinvar/58173 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 http://identifiers.org/clinvar/58174 ^@ GRCh38/hg38 13q31.3(chr13:90215412-91366486)x1 http://identifiers.org/clinvar/58175 ^@ GRCh38/hg38 13q31.3(chr13:90973752-93097331)x1 http://identifiers.org/clinvar/58176 ^@ GRCh38/hg38 13q31.3(chr13:91431897-91628212)x1 http://identifiers.org/clinvar/58177 ^@ GRCh38/hg38 13q31.3(chr13:93345058-93629454)x1 http://identifiers.org/clinvar/58178 ^@ GRCh38/hg38 13q32.3-33.1(chr13:101049614-101387801)x1 http://identifiers.org/clinvar/58179 ^@ GRCh38/hg38 13q33.1(chr13:101387742-101636191)x1 http://identifiers.org/clinvar/58180 ^@ GRCh38/hg38 14q13.3-21.1(chr14:37367874-37465541)x1 http://identifiers.org/clinvar/58181 ^@ GRCh38/hg38 14q21.1(chr14:38232912-38458697)x1 http://identifiers.org/clinvar/58182 ^@ GRCh38/hg38 11q13.4(chr11:73647348-73927680)x3 http://identifiers.org/clinvar/58183 ^@ GRCh38/hg38 11q14.1(chr11:79187266-81105711)x3 http://identifiers.org/clinvar/58184 ^@ GRCh38/hg38 11q22.1(chr11:100325350-100842425)x3 http://identifiers.org/clinvar/58185 ^@ GRCh38/hg38 11q22.1(chr11:101139357-101615307)x3 http://identifiers.org/clinvar/58186 ^@ GRCh38/hg38 11q22.1(chr11:101580685-101907935)x3 http://identifiers.org/clinvar/58187 ^@ GRCh38/hg38 11q22.1-22.2(chr11:102130109-102368261)x3 http://identifiers.org/clinvar/58188 ^@ GRCh38/hg38 11q23.3(chr11:115159099-116045030)x3 http://identifiers.org/clinvar/58189 ^@ GRCh38/hg38 11q24.1(chr11:122596622-122776303)x3 http://identifiers.org/clinvar/58190 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 http://identifiers.org/clinvar/58191 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 http://identifiers.org/clinvar/58192 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 http://identifiers.org/clinvar/58193 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 http://identifiers.org/clinvar/58194 ^@ GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3 http://identifiers.org/clinvar/58195 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 http://identifiers.org/clinvar/58196 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 http://identifiers.org/clinvar/58197 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 http://identifiers.org/clinvar/58198 ^@ GRCh38/hg38 14q21.1(chr14:39745754-40264866)x1 http://identifiers.org/clinvar/58199 ^@ GRCh38/hg38 14q21.1-21.2(chr14:42218945-43239303)x1 http://identifiers.org/clinvar/58200 ^@ GRCh38/hg38 14q21.2(chr14:43789977-44393066)x1 http://identifiers.org/clinvar/58201 ^@ GRCh38/hg38 14q21.3(chr14:47284994-47468193)x1 http://identifiers.org/clinvar/58202 ^@ GRCh38/hg38 14q32.2(chr14:100031805-100808500)x1 http://identifiers.org/clinvar/58203 ^@ GRCh38/hg38 15q11.2(chr15:24186506-24863718)x1 http://identifiers.org/clinvar/58204 ^@ GRCh38/hg38 15q12(chr15:26575931-27051075)x1 http://identifiers.org/clinvar/58205 ^@ GRCh38/hg38 15q13.2(chr15:30639641-30746551)x1 http://identifiers.org/clinvar/58206 ^@ GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3 http://identifiers.org/clinvar/58207 ^@ GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3 http://identifiers.org/clinvar/58208 ^@ GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3 http://identifiers.org/clinvar/58209 ^@ GRCh38/hg38 12p11.23-11.22(chr12:27192518-27615518)x3 http://identifiers.org/clinvar/58210 ^@ GRCh38/hg38 12q12(chr12:39651727-41240339)x3 http://identifiers.org/clinvar/58211 ^@ GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3 http://identifiers.org/clinvar/58212 ^@ GRCh38/hg38 12q14.1-14.2(chr12:60303553-63356583)x3 http://identifiers.org/clinvar/58213 ^@ GRCh38/hg38 22q11.21(chr22:20604697-21025669)x3 http://identifiers.org/clinvar/58214 ^@ GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 http://identifiers.org/clinvar/58215 ^@ GRCh38/hg38 22q11.21(chr22:20690750-21101267)x3 http://identifiers.org/clinvar/58216 ^@ GRCh38/hg38 22q11.21(chr22:20732418-21091671)x3 http://identifiers.org/clinvar/58217 ^@ GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 http://identifiers.org/clinvar/58218 ^@ GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 http://identifiers.org/clinvar/58219 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 http://identifiers.org/clinvar/58220 ^@ GRCh38/hg38 15q21.2(chr15:52005056-52098273)x1 http://identifiers.org/clinvar/58221 ^@ GRCh38/hg38 15q21.3(chr15:57620304-57816087)x1 http://identifiers.org/clinvar/58222 ^@ GRCh38/hg38 15q23(chr15:69765212-70293917)x1 http://identifiers.org/clinvar/58223 ^@ GRCh38/hg38 15q26.3(chr15:98909148-99173160)x1 http://identifiers.org/clinvar/58224 ^@ GRCh38/hg38 15q26.3(chr15:99848343-100704243)x1 http://identifiers.org/clinvar/58225 ^@ GRCh38/hg38 15q26.3(chr15:100455891-101069775)x1 http://identifiers.org/clinvar/58226 ^@ GRCh38/hg38 15q26.3(chr15:101500777-101843270)x1 http://identifiers.org/clinvar/58227 ^@ GRCh38/hg38 16p13.3(chr16:2089462-2092132)x1 http://identifiers.org/clinvar/58228 ^@ GRCh38/hg38 12q14.1(chr12:62284682-62605682)x3 http://identifiers.org/clinvar/58229 ^@ GRCh38/hg38 12q21.33(chr12:90195589-91249888)x3 http://identifiers.org/clinvar/58230 ^@ GRCh38/hg38 12q21.33(chr12:90197297-91239004)x3 http://identifiers.org/clinvar/58231 ^@ GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3 http://identifiers.org/clinvar/58232 ^@ GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 http://identifiers.org/clinvar/58233 ^@ GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3 http://identifiers.org/clinvar/58234 ^@ GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3 http://identifiers.org/clinvar/58235 ^@ GRCh38/hg38 13q12.12-12.13(chr13:24363400-24904246)x3 http://identifiers.org/clinvar/58236 ^@ GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3 http://identifiers.org/clinvar/58237 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 http://identifiers.org/clinvar/58238 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3 http://identifiers.org/clinvar/58239 ^@ GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3 http://identifiers.org/clinvar/58240 ^@ GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3 http://identifiers.org/clinvar/58241 ^@ GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 http://identifiers.org/clinvar/58242 ^@ GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 http://identifiers.org/clinvar/58243 ^@ GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 http://identifiers.org/clinvar/58244 ^@ GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 http://identifiers.org/clinvar/58245 ^@ GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 http://identifiers.org/clinvar/58246 ^@ GRCh38/hg38 16p13.3(chr16:2089647-2096105)x1 http://identifiers.org/clinvar/58247 ^@ GRCh38/hg38 16p13.3(chr16:6870911-7020688)x1 http://identifiers.org/clinvar/58248 ^@ GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1 http://identifiers.org/clinvar/58249 ^@ GRCh38/hg38 16q22.2(chr16:72465272-72710215)x1 http://identifiers.org/clinvar/58250 ^@ GRCh38/hg38 16q22.3-23.1(chr16:73012737-74289420)x1 http://identifiers.org/clinvar/58251 ^@ GRCh38/hg38 16q23.2(chr16:79627684-79891538)x1 http://identifiers.org/clinvar/58252 ^@ GRCh38/hg38 16q23.2(chr16:81083563-81219270)x1 http://identifiers.org/clinvar/58253 ^@ GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3 http://identifiers.org/clinvar/58254 ^@ GRCh38/hg38 13q14.13-14.2(chr13:46587566-47709001)x3 http://identifiers.org/clinvar/58255 ^@ GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3 http://identifiers.org/clinvar/58256 ^@ GRCh38/hg38 13q14.3(chr13:52598879-53101818)x3 http://identifiers.org/clinvar/58257 ^@ GRCh38/hg38 13q14.3-21.1(chr13:54493354-57060928)x3 http://identifiers.org/clinvar/58258 ^@ GRCh38/hg38 13q21.1(chr13:54988722-55781320)x3 http://identifiers.org/clinvar/58259 ^@ GRCh38/hg38 13q21.31-21.32(chr13:62513558-65624303)x3 http://identifiers.org/clinvar/58260 ^@ GRCh38/hg38 13q21.32(chr13:65645518-66626184)x3 http://identifiers.org/clinvar/58261 ^@ GRCh38/hg38 13q21.33(chr13:69819548-70590191)x3 http://identifiers.org/clinvar/58262 ^@ GRCh38/hg38 13q22.3(chr13:77776013-78349185)x3 http://identifiers.org/clinvar/58263 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 http://identifiers.org/clinvar/58264 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 http://identifiers.org/clinvar/58265 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1 http://identifiers.org/clinvar/58266 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 http://identifiers.org/clinvar/58267 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 http://identifiers.org/clinvar/58268 ^@ GRCh38/hg38 16q23.3-24.1(chr16:84081930-85474903)x1 http://identifiers.org/clinvar/58269 ^@ GRCh38/hg38 16q24.1(chr16:85568964-85843360)x1 http://identifiers.org/clinvar/58270 ^@ GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1 http://identifiers.org/clinvar/58271 ^@ GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1 http://identifiers.org/clinvar/58272 ^@ GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1 http://identifiers.org/clinvar/58273 ^@ GRCh38/hg38 17p13.3(chr17:198748-601327)x1 http://identifiers.org/clinvar/58274 ^@ GRCh38/hg38 17p13.3(chr17:226272-1065849)x1 http://identifiers.org/clinvar/58275 ^@ GRCh38/hg38 17p13.3(chr17:279388-729021)x1 http://identifiers.org/clinvar/58276 ^@ GRCh38/hg38 13q22.3(chr13:77786162-78345485)x3 http://identifiers.org/clinvar/58277 ^@ GRCh38/hg38 13q32.1(chr13:95781492-97429106)x3 http://identifiers.org/clinvar/58278 ^@ GRCh38/hg38 13q32.1(chr13:96265059-96974769)x3 http://identifiers.org/clinvar/58279 ^@ GRCh38/hg38 13q32.2-32.3(chr13:97674476-99498445)x3 http://identifiers.org/clinvar/58280 ^@ GRCh38/hg38 13q32.3-33.1(chr13:101049614-101636191)x3 http://identifiers.org/clinvar/58281 ^@ GRCh38/hg38 13q33.1(chr13:102516631-102862008)x3 http://identifiers.org/clinvar/58282 ^@ GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3 http://identifiers.org/clinvar/58283 ^@ GRCh38/hg38 13q34(chr13:113328389-113671476)x3 http://identifiers.org/clinvar/58284 ^@ GRCh38/hg38 13q34(chr13:113448327-114327314)x3 http://identifiers.org/clinvar/58285 ^@ GRCh37/hg19 13q34(chr13:114739949-115085141)x3 http://identifiers.org/clinvar/58286 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 http://identifiers.org/clinvar/58287 ^@ GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 http://identifiers.org/clinvar/58288 ^@ GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 http://identifiers.org/clinvar/58289 ^@ GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 http://identifiers.org/clinvar/58290 ^@ GRCh38/hg38 1p36.33(chr1:844347-2014739)x1 http://identifiers.org/clinvar/58291 ^@ GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 http://identifiers.org/clinvar/58292 ^@ GRCh38/hg38 1p36.33(chr1:844347-2131805)x1 http://identifiers.org/clinvar/58293 ^@ GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1 http://identifiers.org/clinvar/58294 ^@ GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 http://identifiers.org/clinvar/58295 ^@ GRCh38/hg38 17p12(chr17:15249474-15259215)x1 http://identifiers.org/clinvar/58296 ^@ GRCh38/hg38 17p11.2-11.1(chr17:22156481-22706494)x1 http://identifiers.org/clinvar/58297 ^@ GRCh38/hg38 17q22(chr17:52642955-53816677)x1 http://identifiers.org/clinvar/58298 ^@ GRCh38/hg38 17q22(chr17:53068629-53816677)x1 http://identifiers.org/clinvar/58299 ^@ GRCh38/hg38 17q24.1(chr17:64943826-65282354)x1 http://identifiers.org/clinvar/58300 ^@ GRCh38/hg38 17q25.3(chr17:82523093-83072065)x1 http://identifiers.org/clinvar/58301 ^@ GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1 http://identifiers.org/clinvar/58302 ^@ GRCh38/hg38 17q25.3(chr17:82625321-83086818)x1 http://identifiers.org/clinvar/58304 ^@ GRCh38/hg38 14q11.2(chr14:20939377-21670911)x3 http://identifiers.org/clinvar/58305 ^@ GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3 http://identifiers.org/clinvar/58306 ^@ GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3 http://identifiers.org/clinvar/58307 ^@ GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3 http://identifiers.org/clinvar/58308 ^@ GRCh38/hg38 14q22.1(chr14:50713909-50954844)x3 http://identifiers.org/clinvar/58309 ^@ GRCh38/hg38 14q23.2(chr14:63124630-63563163)x3 http://identifiers.org/clinvar/58310 ^@ GRCh38/hg38 14q23.3(chr14:65850118-66612331)x3 http://identifiers.org/clinvar/58311 ^@ GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 http://identifiers.org/clinvar/58312 ^@ GRCh38/hg38 1p36.33(chr1:872305-2047715)x1 http://identifiers.org/clinvar/58313 ^@ GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1 http://identifiers.org/clinvar/58314 ^@ GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 http://identifiers.org/clinvar/58315 ^@ GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3 http://identifiers.org/clinvar/58316 ^@ GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1 http://identifiers.org/clinvar/58317 ^@ GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 http://identifiers.org/clinvar/58318 ^@ GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 http://identifiers.org/clinvar/58319 ^@ GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1 http://identifiers.org/clinvar/58320 ^@ GRCh38/hg38 1p36.33(chr1:2112214-2241243)x1 http://identifiers.org/clinvar/58321 ^@ GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1 http://identifiers.org/clinvar/58322 ^@ GRCh38/hg38 18p11.31(chr18:3447721-3451783)x1 http://identifiers.org/clinvar/58323 ^@ GRCh38/hg38 18p11.22(chr18:9518608-10784749)x1 http://identifiers.org/clinvar/58324 ^@ GRCh38/hg38 18q12.1(chr18:31016495-31171928)x1 http://identifiers.org/clinvar/58325 ^@ GRCh38/hg38 18q12.1(chr18:34297872-34622367)x1 http://identifiers.org/clinvar/58326 ^@ GRCh38/hg38 18q22.1(chr18:64884283-65612537)x1 http://identifiers.org/clinvar/58327 ^@ GRCh38/hg38 18q22.1(chr18:65192460-68134827)x1 http://identifiers.org/clinvar/58328 ^@ GRCh38/hg38 18q23(chr18:79475881-79766196)x1 http://identifiers.org/clinvar/58329 ^@ GRCh38/hg38 14q23.3(chr14:65850318-66612190)x3 http://identifiers.org/clinvar/58330 ^@ GRCh38/hg38 14q24.2(chr14:71647101-72567300)x3 http://identifiers.org/clinvar/58331 ^@ GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3 http://identifiers.org/clinvar/58332 ^@ GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3 http://identifiers.org/clinvar/58333 ^@ GRCh38/hg38 14q31.3(chr14:88680251-89032671)x3 http://identifiers.org/clinvar/58334 ^@ GRCh38/hg38 14q32.11(chr14:90495001-91296461)x3 http://identifiers.org/clinvar/58335 ^@ GRCh38/hg38 14q32.12(chr14:92694709-92905919)x3 http://identifiers.org/clinvar/58336 ^@ GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3 http://identifiers.org/clinvar/58337 ^@ GRCh38/hg38 14q32.2(chr14:97210132-100471765)x3 http://identifiers.org/clinvar/58338 ^@ GRCh38/hg38 14q32.31(chr14:101534151-101561708)x3 http://identifiers.org/clinvar/58339 ^@ GRCh38/hg38 19p13.11(chr19:16485144-16672218)x1 http://identifiers.org/clinvar/58340 ^@ GRCh38/hg38 19p12(chr19:20105221-20818543)x1 http://identifiers.org/clinvar/58341 ^@ GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1 http://identifiers.org/clinvar/58342 ^@ GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1 http://identifiers.org/clinvar/58343 ^@ GRCh38/hg38 19q13.41-13.42(chr19:52707235-53192628)x1 http://identifiers.org/clinvar/58344 ^@ GRCh38/hg38 2p25.3(chr2:30341-429942)x1 http://identifiers.org/clinvar/58345 ^@ GRCh38/hg38 2p25.3(chr2:30341-943088)x1 http://identifiers.org/clinvar/58346 ^@ GRCh38/hg38 2p25.3(chr2:30341-206274)x1 http://identifiers.org/clinvar/58347 ^@ GRCh38/hg38 2p25.3(chr2:50661-140943)x1 http://identifiers.org/clinvar/58348 ^@ GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3 http://identifiers.org/clinvar/58349 ^@ GRCh38/hg38 14q32.33(chr14:105141364-105987610)x3 http://identifiers.org/clinvar/58350 ^@ GRCh38/hg38 14q21.2(chr14:45135229-45729215)x3 http://identifiers.org/clinvar/58351 ^@ GRCh38/hg38 15q12(chr15:26856856-27620867)x3 http://identifiers.org/clinvar/58352 ^@ GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3 http://identifiers.org/clinvar/58353 ^@ GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3 http://identifiers.org/clinvar/58354 ^@ GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3 http://identifiers.org/clinvar/58355 ^@ GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1 http://identifiers.org/clinvar/58356 ^@ GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 http://identifiers.org/clinvar/58357 ^@ GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1 http://identifiers.org/clinvar/58358 ^@ GRCh38/hg38 5q23.3(chr5:128441672-128565049)x1 http://identifiers.org/clinvar/58359 ^@ GRCh38/hg38 5q23.3(chr5:130198251-130757815)x1 http://identifiers.org/clinvar/58360 ^@ GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1 http://identifiers.org/clinvar/58361 ^@ GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 http://identifiers.org/clinvar/58362 ^@ GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1 http://identifiers.org/clinvar/58363 ^@ GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1 http://identifiers.org/clinvar/58364 ^@ GRCh38/hg38 2p25.3(chr2:1159921-1491401)x1 http://identifiers.org/clinvar/58365 ^@ GRCh38/hg38 2p25.1(chr2:10216979-10515005)x1 http://identifiers.org/clinvar/58366 ^@ GRCh38/hg38 2p21(chr2:44286091-44372899)x1 http://identifiers.org/clinvar/58367 ^@ GRCh38/hg38 2p16.3(chr2:47832570-48405178)x1 http://identifiers.org/clinvar/58368 ^@ GRCh38/hg38 2p16.3(chr2:50665709-50755034)x1 http://identifiers.org/clinvar/58369 ^@ GRCh38/hg38 2p16.3(chr2:51065432-51244648)x1 http://identifiers.org/clinvar/58370 ^@ GRCh38/hg38 2p16.3(chr2:51087233-51329577)x1 http://identifiers.org/clinvar/58371 ^@ GRCh38/hg38 2p16.1-15(chr2:60803569-61070455)x1 http://identifiers.org/clinvar/58372 ^@ GRCh38/hg38 2p11.2(chr2:87961218-88738661)x1 http://identifiers.org/clinvar/58373 ^@ GRCh38/hg38 7q36.3(chr7:157271429-159282390)x3 http://identifiers.org/clinvar/58374 ^@ GRCh38/hg38 7q36.3(chr7:157898696-158572709)x3 http://identifiers.org/clinvar/58375 ^@ GRCh38/hg38 7q36.3(chr7:158297823-159034606)x3 http://identifiers.org/clinvar/58376 ^@ GRCh38/hg38 7q36.3(chr7:158703702-159117047)x3 http://identifiers.org/clinvar/58377 ^@ GRCh38/hg38 7q21.11(chr7:81674792-84509195)x3 http://identifiers.org/clinvar/58378 ^@ GRCh38/hg38 8p23.3-23.2(chr8:2475295-3391665)x3 http://identifiers.org/clinvar/58379 ^@ GRCh38/hg38 15q25.3(chr15:85185563-85639683)x3 http://identifiers.org/clinvar/58380 ^@ GRCh38/hg38 8p23.2(chr8:2950225-4051517)x3 http://identifiers.org/clinvar/58381 ^@ GRCh38/hg38 15q25.3(chr15:85327915-85556913)x3 http://identifiers.org/clinvar/58382 ^@ GRCh38/hg38 15q26.1(chr15:92780719-93487233)x3 http://identifiers.org/clinvar/58383 ^@ GRCh38/hg38 15q26.1(chr15:92900794-93012446)x3 http://identifiers.org/clinvar/58384 ^@ GRCh38/hg38 15q26.2(chr15:94227611-94631373)x3 http://identifiers.org/clinvar/58385 ^@ GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3 http://identifiers.org/clinvar/58386 ^@ GRCh38/hg38 15q26.3(chr15:100502358-101087274)x3 http://identifiers.org/clinvar/58387 ^@ GRCh38/hg38 16p13.3(chr16:46766-168972)x3 http://identifiers.org/clinvar/58388 ^@ GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 http://identifiers.org/clinvar/58389 ^@ GRCh38/hg38 5q31.3(chr5:141757107-142141250)x1 http://identifiers.org/clinvar/58390 ^@ GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1 http://identifiers.org/clinvar/58391 ^@ GRCh38/hg38 5q33.1-34(chr5:153195314-164014005)x1 http://identifiers.org/clinvar/58392 ^@ GRCh38/hg38 5q34(chr5:161709251-162161606)x1 http://identifiers.org/clinvar/58393 ^@ GRCh38/hg38 5q34(chr5:161909955-164086917)x1 http://identifiers.org/clinvar/58394 ^@ GRCh38/hg38 5q34-35.1(chr5:166371405-171390034)x1 http://identifiers.org/clinvar/58395 ^@ GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1 http://identifiers.org/clinvar/58396 ^@ GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1 http://identifiers.org/clinvar/58397 ^@ GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 http://identifiers.org/clinvar/58398 ^@ GRCh38/hg38 8p23.2(chr8:3853288-4523856)x3 http://identifiers.org/clinvar/58400 ^@ GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3 http://identifiers.org/clinvar/58401 ^@ GRCh38/hg38 8p23.1(chr8:10056979-11573632)x3 http://identifiers.org/clinvar/58402 ^@ GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3 http://identifiers.org/clinvar/58403 ^@ GRCh38/hg38 8p22(chr8:13421415-14228782)x3 http://identifiers.org/clinvar/58404 ^@ GRCh38/hg38 5q35.3(chr5:177228604-177246556)x1 http://identifiers.org/clinvar/58405 ^@ GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1 http://identifiers.org/clinvar/58406 ^@ GRCh38/hg38 6p25.3-25.1(chr6:162883-5979198)x1 http://identifiers.org/clinvar/58407 ^@ GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1 http://identifiers.org/clinvar/58408 ^@ GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1 http://identifiers.org/clinvar/58409 ^@ GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 http://identifiers.org/clinvar/58410 ^@ GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1 http://identifiers.org/clinvar/58411 ^@ GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 http://identifiers.org/clinvar/58412 ^@ GRCh38/hg38 8p21.3(chr8:20015542-20735743)x3 http://identifiers.org/clinvar/58413 ^@ GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3 http://identifiers.org/clinvar/58414 ^@ GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3 http://identifiers.org/clinvar/58415 ^@ GRCh38/hg38 8p11.21(chr8:42037723-42900363)x3 http://identifiers.org/clinvar/58416 ^@ GRCh38/hg38 8q11.1-11.21(chr8:46544663-47217575)x3 http://identifiers.org/clinvar/58417 ^@ GRCh38/hg38 8q11.21(chr8:49701257-50862570)x3 http://identifiers.org/clinvar/58418 ^@ GRCh38/hg38 8q11.21(chr8:49701257-50844624)x3 http://identifiers.org/clinvar/58419 ^@ GRCh38/hg38 8q11.21-11.22(chr8:49970122-51353867)x3 http://identifiers.org/clinvar/58420 ^@ GRCh38/hg38 8q11.21-11.23(chr8:50236126-51705446)x3 http://identifiers.org/clinvar/58421 ^@ GRCh38/hg38 6p25.3-25.2(chr6:1490636-2700006)x1 http://identifiers.org/clinvar/58422 ^@ GRCh38/hg38 6p25.3(chr6:1605533-1739699)x1 http://identifiers.org/clinvar/58423 ^@ GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 http://identifiers.org/clinvar/58424 ^@ GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 http://identifiers.org/clinvar/58425 ^@ GRCh38/hg38 6p23-22.3(chr6:13684282-16645068)x1 http://identifiers.org/clinvar/58426 ^@ GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 http://identifiers.org/clinvar/58427 ^@ GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 http://identifiers.org/clinvar/58428 ^@ GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 http://identifiers.org/clinvar/58429 ^@ GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1 http://identifiers.org/clinvar/58430 ^@ GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3 http://identifiers.org/clinvar/58431 ^@ GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 http://identifiers.org/clinvar/58432 ^@ GRCh38/hg38 8q24.3(chr8:141131265-142117372)x3 http://identifiers.org/clinvar/58433 ^@ GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 http://identifiers.org/clinvar/58434 ^@ GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 http://identifiers.org/clinvar/58435 ^@ GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3 http://identifiers.org/clinvar/58436 ^@ GRCh38/hg38 8p23.1-22(chr8:12728904-13544286)x3 http://identifiers.org/clinvar/58437 ^@ GRCh38/hg38 9p24.3(chr9:52389-356138)x3 http://identifiers.org/clinvar/58438 ^@ GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 http://identifiers.org/clinvar/58439 ^@ GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1 http://identifiers.org/clinvar/58440 ^@ GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1 http://identifiers.org/clinvar/58441 ^@ GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1 http://identifiers.org/clinvar/58442 ^@ GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 http://identifiers.org/clinvar/58443 ^@ GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1 http://identifiers.org/clinvar/58444 ^@ GRCh38/hg38 6q22.31(chr6:124116341-124499647)x1 http://identifiers.org/clinvar/58445 ^@ GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1 http://identifiers.org/clinvar/58446 ^@ GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1 http://identifiers.org/clinvar/58447 ^@ GRCh38/hg38 9p24.3(chr9:146194-389294)x3 http://identifiers.org/clinvar/58448 ^@ GRCh38/hg38 9p24.3(chr9:195399-340142)x3 http://identifiers.org/clinvar/58449 ^@ GRCh38/hg38 9p24.3(chr9:203993-500725)x3 http://identifiers.org/clinvar/58451 ^@ GRCh38/hg38 9p24.3(chr9:242962-389294)x3 http://identifiers.org/clinvar/58452 ^@ GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 http://identifiers.org/clinvar/58453 ^@ GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 http://identifiers.org/clinvar/58454 ^@ GRCh38/hg38 6q25.3(chr6:155869250-156798955)x1 http://identifiers.org/clinvar/58455 ^@ GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 http://identifiers.org/clinvar/58456 ^@ GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 http://identifiers.org/clinvar/58457 ^@ GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 http://identifiers.org/clinvar/58458 ^@ GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 http://identifiers.org/clinvar/58459 ^@ GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 http://identifiers.org/clinvar/58460 ^@ GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 http://identifiers.org/clinvar/58461 ^@ GRCh38/hg38 9p24.3(chr9:472086-602792)x3 http://identifiers.org/clinvar/58462 ^@ GRCh38/hg38 9p24.3-24.2(chr9:1998911-2925112)x3 http://identifiers.org/clinvar/58463 ^@ GRCh38/hg38 9p24.1-23(chr9:8955956-10197409)x3 http://identifiers.org/clinvar/58464 ^@ GRCh38/hg38 9p24.1-23(chr9:8970379-10200188)x3 http://identifiers.org/clinvar/58465 ^@ GRCh38/hg38 9p23(chr9:10381123-11173149)x3 http://identifiers.org/clinvar/58466 ^@ GRCh38/hg38 9p22.3-22.2(chr9:16251208-16830847)x3 http://identifiers.org/clinvar/58467 ^@ GRCh38/hg38 9p22.3-22.2(chr9:16281248-16779434)x3 http://identifiers.org/clinvar/58468 ^@ GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 http://identifiers.org/clinvar/58469 ^@ GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 http://identifiers.org/clinvar/58470 ^@ GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 http://identifiers.org/clinvar/58471 ^@ GRCh38/hg38 6q27(chr6:165126489-170581161)x1 http://identifiers.org/clinvar/58472 ^@ GRCh38/hg38 6q27(chr6:166370159-170602152)x1 http://identifiers.org/clinvar/58473 ^@ GRCh38/hg38 6q27(chr6:167838308-170581020)x1 http://identifiers.org/clinvar/58474 ^@ GRCh38/hg38 6q27(chr6:167924952-170602152)x1 http://identifiers.org/clinvar/58475 ^@ GRCh38/hg38 6q27(chr6:168180473-170583214)x1 http://identifiers.org/clinvar/58476 ^@ GRCh38/hg38 9q21.31-21.32(chr9:78805124-81880860)x3 http://identifiers.org/clinvar/58477 ^@ GRCh38/hg38 9q21.31-21.32(chr9:81051602-82804697)x3 http://identifiers.org/clinvar/58478 ^@ GRCh38/hg38 9q22.31(chr9:91870872-91952741)x3 http://identifiers.org/clinvar/58479 ^@ GRCh38/hg38 9q22.31(chr9:91935027-92331095)x3 http://identifiers.org/clinvar/58480 ^@ GRCh38/hg38 9q31.2(chr9:106998471-107651321)x3 http://identifiers.org/clinvar/58481 ^@ GRCh38/hg38 9q32(chr9:114246876-114637081)x3 http://identifiers.org/clinvar/58482 ^@ GRCh38/hg38 9q32(chr9:114270395-114677524)x3 http://identifiers.org/clinvar/58483 ^@ GRCh38/hg38 9q33.1(chr9:116588311-117510401)x3 http://identifiers.org/clinvar/58484 ^@ GRCh38/hg38 9q33.1(chr9:116716155-117646662)x3 http://identifiers.org/clinvar/58485 ^@ GRCh38/hg38 1q21.1(chr1:145705541-146009831)x1 http://identifiers.org/clinvar/58487 ^@ GRCh38/hg38 6q27(chr6:169021176-170602152)x1 http://identifiers.org/clinvar/58488 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 http://identifiers.org/clinvar/58489 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 http://identifiers.org/clinvar/58490 ^@ GRCh38/hg38 6p25.3(chr6:1093293-2155578)x1 http://identifiers.org/clinvar/58491 ^@ GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 http://identifiers.org/clinvar/58492 ^@ GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 http://identifiers.org/clinvar/58493 ^@ GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 http://identifiers.org/clinvar/58494 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x1 http://identifiers.org/clinvar/58495 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 http://identifiers.org/clinvar/58496 ^@ GRCh38/hg38 7p22.3(chr7:54185-1441125)x1 http://identifiers.org/clinvar/58497 ^@ GRCh38/hg38 7p22.1(chr7:4532619-5378373)x1 http://identifiers.org/clinvar/58498 ^@ GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 http://identifiers.org/clinvar/58499 ^@ GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3 http://identifiers.org/clinvar/58500 ^@ GRCh38/hg38 9q34.13(chr9:131702422-132271840)x3 http://identifiers.org/clinvar/58501 ^@ GRCh38/hg38 9q34.2(chr9:133504071-133777922)x3 http://identifiers.org/clinvar/58502 ^@ GRCh38/hg38 Xp22.33(chrX:413881-843100)x3 http://identifiers.org/clinvar/58503 ^@ GRCh38/hg38 Xp22.33(chrX:483809-884538)x3 http://identifiers.org/clinvar/58504 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436925)x1 http://identifiers.org/clinvar/58505 ^@ GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1 http://identifiers.org/clinvar/58506 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 http://identifiers.org/clinvar/58507 ^@ GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1 http://identifiers.org/clinvar/58508 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 http://identifiers.org/clinvar/58509 ^@ GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1 http://identifiers.org/clinvar/58510 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x1 http://identifiers.org/clinvar/58511 ^@ GRCh38/hg38 7p22.1(chr7:5497215-5531287)x1 http://identifiers.org/clinvar/58512 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 http://identifiers.org/clinvar/58513 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 http://identifiers.org/clinvar/58514 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x3 http://identifiers.org/clinvar/58515 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 http://identifiers.org/clinvar/58516 ^@ GRCh38/hg38 7p22.1(chr7:6137098-6398566)x1 http://identifiers.org/clinvar/58517 ^@ GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 http://identifiers.org/clinvar/58518 ^@ GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 http://identifiers.org/clinvar/58519 ^@ GRCh38/hg38 7p21.2-21.1(chr7:14959516-19467349)x1 http://identifiers.org/clinvar/58520 ^@ GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1 http://identifiers.org/clinvar/58521 ^@ GRCh38/hg38 Xp22.33(chrX:537126-718891)x3 http://identifiers.org/clinvar/58522 ^@ GRCh38/hg38 Xp22.33(chrX:2444467-2970550)x3 http://identifiers.org/clinvar/58523 ^@ GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 http://identifiers.org/clinvar/58524 ^@ GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 http://identifiers.org/clinvar/58525 ^@ GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 http://identifiers.org/clinvar/58526 ^@ GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 http://identifiers.org/clinvar/58527 ^@ GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 http://identifiers.org/clinvar/58528 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 http://identifiers.org/clinvar/58529 ^@ GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 http://identifiers.org/clinvar/58530 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147029419-148167468)x1 http://identifiers.org/clinvar/58531 ^@ GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 http://identifiers.org/clinvar/58532 ^@ GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 http://identifiers.org/clinvar/58533 ^@ GRCh38/hg38 7p21.1(chr7:17930595-18209019)x1 http://identifiers.org/clinvar/58534 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147029419-148342687)x1 http://identifiers.org/clinvar/58535 ^@ GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1 http://identifiers.org/clinvar/58536 ^@ GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 http://identifiers.org/clinvar/58537 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 http://identifiers.org/clinvar/58538 ^@ GRCh38/hg38 1q31.3(chr1:196788148-196827586)x1 http://identifiers.org/clinvar/58539 ^@ GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 http://identifiers.org/clinvar/58540 ^@ GRCh38/hg38 7p21.1(chr7:18931530-19221396)x1 http://identifiers.org/clinvar/58541 ^@ GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 http://identifiers.org/clinvar/58542 ^@ GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 http://identifiers.org/clinvar/58543 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 http://identifiers.org/clinvar/58544 ^@ GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1 http://identifiers.org/clinvar/58545 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 http://identifiers.org/clinvar/58546 ^@ GRCh38/hg38 7p14.1(chr7:42055193-42218144)x1 http://identifiers.org/clinvar/58547 ^@ GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 http://identifiers.org/clinvar/58548 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 http://identifiers.org/clinvar/58549 ^@ GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 http://identifiers.org/clinvar/58550 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 http://identifiers.org/clinvar/58551 ^@ GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 http://identifiers.org/clinvar/58552 ^@ GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1 http://identifiers.org/clinvar/58553 ^@ GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 http://identifiers.org/clinvar/58554 ^@ GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3 http://identifiers.org/clinvar/58555 ^@ GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 http://identifiers.org/clinvar/58556 ^@ GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 http://identifiers.org/clinvar/58557 ^@ GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 http://identifiers.org/clinvar/58558 ^@ GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 http://identifiers.org/clinvar/58559 ^@ GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 http://identifiers.org/clinvar/58560 ^@ GRCh38/hg38 Xp22.31(chrX:6539362-6739769)x2 http://identifiers.org/clinvar/58561 ^@ GRCh38/hg38 Xp22.31(chrX:7992018-8563130)x3 http://identifiers.org/clinvar/58562 ^@ GRCh38/hg38 Xp22.31(chrX:8168621-8571550)x2 http://identifiers.org/clinvar/58563 ^@ GRCh38/hg38 Xp22.31(chrX:8452094-8729487)x2 http://identifiers.org/clinvar/58564 ^@ GRCh38/hg38 Xp22.31(chrX:8469933-8736337)x3 http://identifiers.org/clinvar/58565 ^@ GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x2 http://identifiers.org/clinvar/58566 ^@ GRCh38/hg38 Xp22.31(chrX:8628853-8737453)x2 http://identifiers.org/clinvar/58568 ^@ GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 http://identifiers.org/clinvar/58569 ^@ GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 http://identifiers.org/clinvar/58570 ^@ GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 http://identifiers.org/clinvar/58571 ^@ GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3 http://identifiers.org/clinvar/58572 ^@ GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 http://identifiers.org/clinvar/58573 ^@ GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3 http://identifiers.org/clinvar/58574 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 http://identifiers.org/clinvar/58575 ^@ GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 http://identifiers.org/clinvar/58576 ^@ GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 http://identifiers.org/clinvar/58577 ^@ GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 http://identifiers.org/clinvar/58578 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 http://identifiers.org/clinvar/58579 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 http://identifiers.org/clinvar/58580 ^@ GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 http://identifiers.org/clinvar/58581 ^@ GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 http://identifiers.org/clinvar/58582 ^@ GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 http://identifiers.org/clinvar/58583 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 http://identifiers.org/clinvar/58584 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 http://identifiers.org/clinvar/58585 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 http://identifiers.org/clinvar/58586 ^@ GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 http://identifiers.org/clinvar/58587 ^@ GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 http://identifiers.org/clinvar/58588 ^@ GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 http://identifiers.org/clinvar/58589 ^@ GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 http://identifiers.org/clinvar/58590 ^@ GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2 http://identifiers.org/clinvar/58591 ^@ GRCh38/hg38 Xp22.2(chrX:11104475-11121622)x3 http://identifiers.org/clinvar/58592 ^@ GRCh38/hg38 Xp22.13(chrX:18643580-18838741)x2 http://identifiers.org/clinvar/58593 ^@ GRCh38/hg38 15q26.3(chr15:98364684-99338342)x3 http://identifiers.org/clinvar/58594 ^@ GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 http://identifiers.org/clinvar/58595 ^@ GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 http://identifiers.org/clinvar/58596 ^@ GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 http://identifiers.org/clinvar/58597 ^@ GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 http://identifiers.org/clinvar/58598 ^@ GRCh38/hg38 16p13.3(chr16:239680-589745)x3 http://identifiers.org/clinvar/58599 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1 http://identifiers.org/clinvar/58600 ^@ GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 http://identifiers.org/clinvar/58601 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 http://identifiers.org/clinvar/58602 ^@ GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 http://identifiers.org/clinvar/58603 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 http://identifiers.org/clinvar/58604 ^@ GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3 http://identifiers.org/clinvar/58605 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 http://identifiers.org/clinvar/58606 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 http://identifiers.org/clinvar/58607 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 http://identifiers.org/clinvar/58608 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 http://identifiers.org/clinvar/58609 ^@ GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3 http://identifiers.org/clinvar/58610 ^@ GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3 http://identifiers.org/clinvar/58611 ^@ GRCh38/hg38 Xp21.3(chrX:28759823-29094411)x2 http://identifiers.org/clinvar/58612 ^@ GRCh38/hg38 Xp21.2(chrX:29713271-29740951)x3 http://identifiers.org/clinvar/58613 ^@ GRCh38/hg38 Xp21.2-21.1(chrX:31444405-31806767)x3 http://identifiers.org/clinvar/58614 ^@ GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2 http://identifiers.org/clinvar/58615 ^@ GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 http://identifiers.org/clinvar/58616 ^@ GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2 http://identifiers.org/clinvar/58617 ^@ GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 http://identifiers.org/clinvar/58618 ^@ GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 http://identifiers.org/clinvar/58619 ^@ GRCh38/hg38 16p13.3(chr16:2326840-3487106)x3 http://identifiers.org/clinvar/58620 ^@ GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 http://identifiers.org/clinvar/58621 ^@ GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3 http://identifiers.org/clinvar/58622 ^@ GRCh38/hg38 16p13.3(chr16:3680455-3741327)x3 http://identifiers.org/clinvar/58623 ^@ GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3 http://identifiers.org/clinvar/58624 ^@ GRCh38/hg38 16p13.2(chr16:8677203-9562709)x4 http://identifiers.org/clinvar/58625 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 http://identifiers.org/clinvar/58626 ^@ GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 http://identifiers.org/clinvar/58627 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 http://identifiers.org/clinvar/58628 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 http://identifiers.org/clinvar/58629 ^@ GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3 http://identifiers.org/clinvar/58630 ^@ GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 http://identifiers.org/clinvar/58631 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 http://identifiers.org/clinvar/58632 ^@ GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 http://identifiers.org/clinvar/58633 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 http://identifiers.org/clinvar/58634 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 http://identifiers.org/clinvar/58635 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 http://identifiers.org/clinvar/58636 ^@ GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1 http://identifiers.org/clinvar/58637 ^@ GRCh38/hg38 Xp11.22(chrX:53403791-54030240)x2 http://identifiers.org/clinvar/58638 ^@ GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2 http://identifiers.org/clinvar/58639 ^@ GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 http://identifiers.org/clinvar/58640 ^@ GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 http://identifiers.org/clinvar/58641 ^@ GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 http://identifiers.org/clinvar/58642 ^@ GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 http://identifiers.org/clinvar/58643 ^@ GRCh38/hg38 Xq13.3(chrX:75012979-75197052)x2 http://identifiers.org/clinvar/58644 ^@ GRCh38/hg38 Xq21.1(chrX:77448504-77783428)x2 http://identifiers.org/clinvar/58645 ^@ GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 http://identifiers.org/clinvar/58646 ^@ GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 http://identifiers.org/clinvar/58647 ^@ GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 http://identifiers.org/clinvar/58648 ^@ GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 http://identifiers.org/clinvar/58649 ^@ GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 http://identifiers.org/clinvar/58650 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1 http://identifiers.org/clinvar/58651 ^@ GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 http://identifiers.org/clinvar/58652 ^@ GRCh38/hg38 17p13.3(chr17:234496-2385512)x3 http://identifiers.org/clinvar/58653 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1 http://identifiers.org/clinvar/58654 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1 http://identifiers.org/clinvar/58655 ^@ GRCh38/hg38 17p13.3(chr17:436763-2527511)x3 http://identifiers.org/clinvar/58657 ^@ GRCh38/hg38 17p13.3(chr17:445331-2385512)x3 http://identifiers.org/clinvar/58658 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30361674-32217725)x1 http://identifiers.org/clinvar/58659 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30527062-32217866)x1 http://identifiers.org/clinvar/58660 ^@ GRCh38/hg38 Xq21.1(chrX:77829855-77902263)x2 http://identifiers.org/clinvar/58661 ^@ GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 http://identifiers.org/clinvar/58662 ^@ GRCh38/hg38 Xq21.31(chrX:88378629-89096387)x2 http://identifiers.org/clinvar/58663 ^@ GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 http://identifiers.org/clinvar/58664 ^@ GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 http://identifiers.org/clinvar/58665 ^@ GRCh38/hg38 Xq22.3(chrX:105891235-106425782)x2 http://identifiers.org/clinvar/58666 ^@ GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3 http://identifiers.org/clinvar/58667 ^@ GRCh38/hg38 Xq23(chrX:109690866-110088881)x2 http://identifiers.org/clinvar/58668 ^@ GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 http://identifiers.org/clinvar/58669 ^@ GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 http://identifiers.org/clinvar/58670 ^@ GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3 http://identifiers.org/clinvar/58671 ^@ GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3 http://identifiers.org/clinvar/58672 ^@ GRCh38/hg38 17p13.3(chr17:1325809-1638055)x3 http://identifiers.org/clinvar/58673 ^@ GRCh38/hg38 17p13.3(chr17:1353038-1379031)x3 http://identifiers.org/clinvar/58674 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1 http://identifiers.org/clinvar/58675 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1 http://identifiers.org/clinvar/58676 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1 http://identifiers.org/clinvar/58677 ^@ GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 http://identifiers.org/clinvar/58678 ^@ GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 http://identifiers.org/clinvar/58679 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1 http://identifiers.org/clinvar/58680 ^@ GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 http://identifiers.org/clinvar/58681 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662323-32217866)x1 http://identifiers.org/clinvar/58682 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30662523-32343758)x1 http://identifiers.org/clinvar/58683 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1 http://identifiers.org/clinvar/58684 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1 http://identifiers.org/clinvar/58685 ^@ GRCh38/hg38 Xq26.2(chrX:133474724-133869312)x2 http://identifiers.org/clinvar/58686 ^@ GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 http://identifiers.org/clinvar/58687 ^@ GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3 http://identifiers.org/clinvar/58688 ^@ GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 http://identifiers.org/clinvar/58689 ^@ GRCh38/hg38 Xq27.1(chrX:140247565-140694868)x3 http://identifiers.org/clinvar/58690 ^@ GRCh38/hg38 Xq27.1(chrX:140265414-140661089)x3 http://identifiers.org/clinvar/58691 ^@ GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 http://identifiers.org/clinvar/58692 ^@ GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 http://identifiers.org/clinvar/58693 ^@ GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 http://identifiers.org/clinvar/58694 ^@ GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3 http://identifiers.org/clinvar/58695 ^@ NR_106744.1(MIR378J):n.(?_-249105)_(16324_?)dup http://identifiers.org/clinvar/58696 ^@ GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 http://identifiers.org/clinvar/58697 ^@ GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 http://identifiers.org/clinvar/58698 ^@ GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1 http://identifiers.org/clinvar/58699 ^@ GRCh38/hg38 15q24.1(chr15:72671629-74051557)x1 http://identifiers.org/clinvar/58700 ^@ GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 http://identifiers.org/clinvar/58701 ^@ GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1 http://identifiers.org/clinvar/58702 ^@ GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 http://identifiers.org/clinvar/58703 ^@ GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 http://identifiers.org/clinvar/58704 ^@ GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1 http://identifiers.org/clinvar/58705 ^@ GRCh38/hg38 16p13.11(chr16:14874798-16100862)x1 http://identifiers.org/clinvar/58706 ^@ GRCh38/hg38 Xq28(chrX:149722144-150242706)x2 http://identifiers.org/clinvar/58707 ^@ GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 http://identifiers.org/clinvar/58708 ^@ GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 http://identifiers.org/clinvar/58709 ^@ GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 http://identifiers.org/clinvar/58710 ^@ GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 http://identifiers.org/clinvar/58711 ^@ GRCh38/hg38 10p15.3(chr10:87458-2482736)x1 http://identifiers.org/clinvar/58712 ^@ GRCh38/hg38 10p15.3(chr10:90221-1843892)x1 http://identifiers.org/clinvar/58713 ^@ GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 http://identifiers.org/clinvar/58714 ^@ GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 http://identifiers.org/clinvar/58715 ^@ GRCh38/hg38 10p15.3(chr10:90421-2894483)x1 http://identifiers.org/clinvar/58716 ^@ GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 http://identifiers.org/clinvar/58717 ^@ GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 http://identifiers.org/clinvar/58718 ^@ GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 http://identifiers.org/clinvar/58719 ^@ GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1 http://identifiers.org/clinvar/58720 ^@ GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 http://identifiers.org/clinvar/58721 ^@ GRCh38/hg38 16p13.11(chr16:14954694-16100862)x1 http://identifiers.org/clinvar/58722 ^@ GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 http://identifiers.org/clinvar/58723 ^@ GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 http://identifiers.org/clinvar/58724 ^@ GRCh38/hg38 18p11.32(chr18:148763-293736)x3 http://identifiers.org/clinvar/58725 ^@ GRCh38/hg38 10q21.1(chr10:54287239-57268543)x1 http://identifiers.org/clinvar/58726 ^@ GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 http://identifiers.org/clinvar/58727 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15310395-18213149)x1 http://identifiers.org/clinvar/58728 ^@ GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 http://identifiers.org/clinvar/58729 ^@ GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 http://identifiers.org/clinvar/58730 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3 http://identifiers.org/clinvar/58731 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1 http://identifiers.org/clinvar/58732 ^@ GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1 http://identifiers.org/clinvar/58733 ^@ GRCh38/hg38 16p13.11-12.3(chr16:16450841-18203371)x1 http://identifiers.org/clinvar/58734 ^@ GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 http://identifiers.org/clinvar/58735 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 http://identifiers.org/clinvar/58736 ^@ GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 http://identifiers.org/clinvar/58737 ^@ GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 http://identifiers.org/clinvar/58738 ^@ GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 http://identifiers.org/clinvar/58739 ^@ GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 http://identifiers.org/clinvar/58740 ^@ GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 http://identifiers.org/clinvar/58741 ^@ GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 http://identifiers.org/clinvar/58742 ^@ GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 http://identifiers.org/clinvar/58743 ^@ GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 http://identifiers.org/clinvar/58744 ^@ GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 http://identifiers.org/clinvar/58745 ^@ GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 http://identifiers.org/clinvar/58746 ^@ GRCh38/hg38 10q22.2(chr10:74263235-74468002)x1 http://identifiers.org/clinvar/58747 ^@ GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3 http://identifiers.org/clinvar/58748 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1 http://identifiers.org/clinvar/58749 ^@ GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 http://identifiers.org/clinvar/58750 ^@ GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 http://identifiers.org/clinvar/58751 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1 http://identifiers.org/clinvar/58752 ^@ GRCh38/hg38 18p11.23-11.22(chr18:7542605-9320894)x3 http://identifiers.org/clinvar/58753 ^@ GRCh38/hg38 18p11.21(chr18:13298775-14082029)x3 http://identifiers.org/clinvar/58754 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1 http://identifiers.org/clinvar/58755 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1 http://identifiers.org/clinvar/58756 ^@ GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 http://identifiers.org/clinvar/58757 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1 http://identifiers.org/clinvar/58758 ^@ GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3 http://identifiers.org/clinvar/58759 ^@ GRCh38/hg38 10q23.1-23.31(chr10:84925492-88002064)x1 http://identifiers.org/clinvar/58760 ^@ GRCh38/hg38 18q11.1-11.2(chr18:20964726-25043457)x3 http://identifiers.org/clinvar/58761 ^@ GRCh38/hg38 18q11.1-11.2(chr18:20964726-24937674)x3 http://identifiers.org/clinvar/58762 ^@ GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 http://identifiers.org/clinvar/58763 ^@ GRCh38/hg38 Xq28(chrX:154022066-154092314)x3 http://identifiers.org/clinvar/58764 ^@ GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2 http://identifiers.org/clinvar/58765 ^@ GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1 http://identifiers.org/clinvar/58766 ^@ GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 http://identifiers.org/clinvar/58767 ^@ GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 http://identifiers.org/clinvar/58768 ^@ GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1 http://identifiers.org/clinvar/58769 ^@ GRCh38/hg38 2q31.1(chr2:173960458-175924594)x1 http://identifiers.org/clinvar/58770 ^@ GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 http://identifiers.org/clinvar/58771 ^@ GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 http://identifiers.org/clinvar/58772 ^@ GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1 http://identifiers.org/clinvar/58773 ^@ GRCh38/hg38 10q23.2-23.31(chr10:86727432-89201768)x1 http://identifiers.org/clinvar/58774 ^@ GRCh38/hg38 10q23.2(chr10:86787518-86892381)x1 http://identifiers.org/clinvar/58775 ^@ GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 http://identifiers.org/clinvar/58776 ^@ GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 http://identifiers.org/clinvar/58777 ^@ GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 http://identifiers.org/clinvar/58778 ^@ GRCh38/hg38 10q24.32(chr10:101416272-101689575)x1 http://identifiers.org/clinvar/58779 ^@ GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3 http://identifiers.org/clinvar/58780 ^@ GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1 http://identifiers.org/clinvar/58781 ^@ GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3 http://identifiers.org/clinvar/58782 ^@ GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1 http://identifiers.org/clinvar/58783 ^@ GRCh38/hg38 18q21.2(chr18:55303869-55536679)x3 http://identifiers.org/clinvar/58784 ^@ GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 http://identifiers.org/clinvar/58785 ^@ GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 http://identifiers.org/clinvar/58786 ^@ GRCh38/hg38 18q22.3-23(chr18:75300296-80252149)x3 http://identifiers.org/clinvar/58787 ^@ GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 http://identifiers.org/clinvar/58788 ^@ GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1 http://identifiers.org/clinvar/58789 ^@ GRCh38/hg38 5q22.1-22.2(chr5:112161743-112421091)x1 http://identifiers.org/clinvar/58790 ^@ GRCh38/hg38 5q31.2(chr5:138738648-139442996)x1 http://identifiers.org/clinvar/58791 ^@ GRCh38/hg38 5q31.3(chr5:141185055-141211630)x1 http://identifiers.org/clinvar/58792 ^@ GRCh38/hg38 6p25.3-25.2(chr6:1773202-2724752)x1 http://identifiers.org/clinvar/58793 ^@ GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2 http://identifiers.org/clinvar/58794 ^@ GRCh38/hg38 6q13(chr6:71961903-72268687)x1 http://identifiers.org/clinvar/58795 ^@ GRCh38/hg38 Yp11.2(chrY:2783624-5104946)x2 http://identifiers.org/clinvar/58796 ^@ GRCh37/hg19 Yp11.3-q12(chrY:2651665-59031480)x2 http://identifiers.org/clinvar/58797 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:2786611-26409996)x2 http://identifiers.org/clinvar/58798 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2 http://identifiers.org/clinvar/58799 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2 http://identifiers.org/clinvar/58800 ^@ GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2 http://identifiers.org/clinvar/58801 ^@ GRCh38/hg38 19q13.33(chr19:47751322-47767410)x3 http://identifiers.org/clinvar/58802 ^@ GRCh38/hg38 19q13.33(chr19:50076580-50354608)x3 http://identifiers.org/clinvar/58803 ^@ GRCh38/hg38 19q13.41(chr19:51824349-52113443)x3 http://identifiers.org/clinvar/58804 ^@ GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3 http://identifiers.org/clinvar/58805 ^@ GRCh38/hg38 19q13.42(chr19:53601298-53773028)x3 http://identifiers.org/clinvar/58806 ^@ GRCh38/hg38 19q13.43(chr19:57674103-57871262)x3 http://identifiers.org/clinvar/58807 ^@ GRCh38/hg38 2p25.3(chr2:694400-1433587)x3 http://identifiers.org/clinvar/58808 ^@ GRCh38/hg38 2p25.3(chr2:860301-1128993)x3 http://identifiers.org/clinvar/58809 ^@ GRCh38/hg38 2p25.3(chr2:1110952-1699889)x3 http://identifiers.org/clinvar/58810 ^@ GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3 http://identifiers.org/clinvar/58811 ^@ GRCh38/hg38 2q31.3-32.1(chr2:181491072-182559009)x1 http://identifiers.org/clinvar/58812 ^@ GRCh38/hg38 2q32.3(chr2:192170510-195368610)x1 http://identifiers.org/clinvar/58813 ^@ GRCh38/hg38 2q33.1(chr2:198024870-199489395)x1 http://identifiers.org/clinvar/58814 ^@ GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 http://identifiers.org/clinvar/58815 ^@ GRCh38/hg38 2q33.1(chr2:199358712-199453058)x1 http://identifiers.org/clinvar/58816 ^@ GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 http://identifiers.org/clinvar/58817 ^@ GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1 http://identifiers.org/clinvar/58818 ^@ GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 http://identifiers.org/clinvar/58819 ^@ GRCh38/hg38 2q33.3-34(chr2:208179265-209331482)x1 http://identifiers.org/clinvar/58820 ^@ GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1 http://identifiers.org/clinvar/58821 ^@ GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1 http://identifiers.org/clinvar/58822 ^@ GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 http://identifiers.org/clinvar/58823 ^@ GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1 http://identifiers.org/clinvar/58824 ^@ GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1 http://identifiers.org/clinvar/58825 ^@ GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1 http://identifiers.org/clinvar/58826 ^@ GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1 http://identifiers.org/clinvar/58827 ^@ GRCh38/hg38 10q26.3(chr10:129763050-131379342)x1 http://identifiers.org/clinvar/58828 ^@ GRCh38/hg38 6q14.1(chr6:80332710-81126767)x1 http://identifiers.org/clinvar/58829 ^@ GRCh38/hg38 6q14.3(chr6:84511090-85008210)x1 http://identifiers.org/clinvar/58830 ^@ GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1 http://identifiers.org/clinvar/58831 ^@ GRCh38/hg38 6q25.2-25.3(chr6:155123107-155645553)x1 http://identifiers.org/clinvar/58832 ^@ GRCh38/hg38 6q26(chr6:162163268-162378349)x1 http://identifiers.org/clinvar/58833 ^@ GRCh38/hg38 6q26(chr6:162195999-162693004)x1 http://identifiers.org/clinvar/58834 ^@ GRCh38/hg38 6q26(chr6:162233059-162579288)x1 http://identifiers.org/clinvar/58835 ^@ GRCh38/hg38 6q26(chr6:162233059-162449396)x1 http://identifiers.org/clinvar/58836 ^@ GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3 http://identifiers.org/clinvar/58837 ^@ GRCh38/hg38 2p25.2-25.1(chr2:6503572-7934538)x3 http://identifiers.org/clinvar/58838 ^@ GRCh38/hg38 2p25.1-24.3(chr2:10216779-13474790)x3 http://identifiers.org/clinvar/58839 ^@ GRCh38/hg38 2p24.2(chr2:17650673-18647986)x3 http://identifiers.org/clinvar/58840 ^@ GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3 http://identifiers.org/clinvar/58841 ^@ GRCh38/hg38 2p22.1(chr2:39036084-39379226)x3 http://identifiers.org/clinvar/58842 ^@ GRCh38/hg38 2p21(chr2:45273296-45954468)x3 http://identifiers.org/clinvar/58843 ^@ GRCh38/hg38 2p21-16.3(chr2:47206008-47600171)x3 http://identifiers.org/clinvar/58844 ^@ GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 http://identifiers.org/clinvar/58845 ^@ GRCh38/hg38 2q36.1-36.2(chr2:221387419-224669350)x1 http://identifiers.org/clinvar/58846 ^@ GRCh38/hg38 2q36.1(chr2:223597428-224061556)x1 http://identifiers.org/clinvar/58847 ^@ GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 http://identifiers.org/clinvar/58848 ^@ GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 http://identifiers.org/clinvar/58849 ^@ GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 http://identifiers.org/clinvar/58850 ^@ GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 http://identifiers.org/clinvar/58851 ^@ GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 http://identifiers.org/clinvar/58852 ^@ GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 http://identifiers.org/clinvar/58853 ^@ GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1 http://identifiers.org/clinvar/58854 ^@ GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1 http://identifiers.org/clinvar/58855 ^@ GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 http://identifiers.org/clinvar/58856 ^@ GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1 http://identifiers.org/clinvar/58857 ^@ GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1 http://identifiers.org/clinvar/58858 ^@ GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 http://identifiers.org/clinvar/58859 ^@ GRCh38/hg38 11p13(chr11:31096480-31726083)x1 http://identifiers.org/clinvar/58860 ^@ GRCh38/hg38 11p13(chr11:31500417-31539732)x1 http://identifiers.org/clinvar/58861 ^@ GRCh38/hg38 6q15(chr6:91673441-92230175)x1 http://identifiers.org/clinvar/58862 ^@ GRCh38/hg38 7p22.3(chr7:170366-227833)x1 http://identifiers.org/clinvar/58863 ^@ GRCh38/hg38 7p21.1(chr7:18638299-18797297)x1 http://identifiers.org/clinvar/58864 ^@ GRCh38/hg38 7p15.3(chr7:22955449-23155175)x1 http://identifiers.org/clinvar/58865 ^@ GRCh38/hg38 7p14.3(chr7:29368207-29796236)x1 http://identifiers.org/clinvar/58866 ^@ GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1 http://identifiers.org/clinvar/58867 ^@ GRCh38/hg38 7q11.22(chr7:71835105-72444532)x1 http://identifiers.org/clinvar/58868 ^@ GRCh38/hg38 7q11.22(chr7:72022091-72300628)x1 http://identifiers.org/clinvar/58869 ^@ GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3 http://identifiers.org/clinvar/58870 ^@ GRCh38/hg38 2p16.1-15(chr2:60009106-62006709)x3 http://identifiers.org/clinvar/58871 ^@ GRCh38/hg38 2p15-14(chr2:63867188-64294742)x3 http://identifiers.org/clinvar/58872 ^@ GRCh38/hg38 2p14(chr2:66239485-67988719)x3 http://identifiers.org/clinvar/58873 ^@ GRCh38/hg38 2p12(chr2:75252767-76559619)x3 http://identifiers.org/clinvar/58874 ^@ GRCh38/hg38 2p12(chr2:75636306-78606727)x3 http://identifiers.org/clinvar/58875 ^@ GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4 http://identifiers.org/clinvar/58876 ^@ GRCh38/hg38 2p11.2(chr2:86073968-86251223)x3 http://identifiers.org/clinvar/58877 ^@ GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3 http://identifiers.org/clinvar/58878 ^@ GRCh38/hg38 2q11.2(chr2:101080018-101646523)x3 http://identifiers.org/clinvar/58879 ^@ GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 http://identifiers.org/clinvar/58880 ^@ GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 http://identifiers.org/clinvar/58881 ^@ GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 http://identifiers.org/clinvar/58882 ^@ GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 http://identifiers.org/clinvar/58883 ^@ GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 http://identifiers.org/clinvar/58884 ^@ GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 http://identifiers.org/clinvar/58885 ^@ GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 http://identifiers.org/clinvar/58886 ^@ GRCh38/hg38 11p13(chr11:31528093-31807593)x1 http://identifiers.org/clinvar/58887 ^@ GRCh38/hg38 11p13(chr11:31765618-31792086)x1 http://identifiers.org/clinvar/58888 ^@ GRCh38/hg38 11p13(chr11:31788949-31800869)x1 http://identifiers.org/clinvar/58889 ^@ GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 http://identifiers.org/clinvar/58890 ^@ GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 http://identifiers.org/clinvar/58891 ^@ GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 http://identifiers.org/clinvar/58892 ^@ GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1 http://identifiers.org/clinvar/58893 ^@ GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1 http://identifiers.org/clinvar/58894 ^@ GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 http://identifiers.org/clinvar/58895 ^@ GRCh38/hg38 7q11.23(chr7:74379999-74533556)x1 http://identifiers.org/clinvar/58896 ^@ GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1 http://identifiers.org/clinvar/58897 ^@ GRCh38/hg38 7q21.13(chr7:90671853-90863294)x1 http://identifiers.org/clinvar/58898 ^@ GRCh38/hg38 7q31.1(chr7:109778987-110317950)x1 http://identifiers.org/clinvar/58899 ^@ GRCh38/hg38 2q12.1-12.2(chr2:103739593-105485794)x3 http://identifiers.org/clinvar/58900 ^@ GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3 http://identifiers.org/clinvar/58901 ^@ GRCh38/hg38 2q14.3(chr2:123969752-124253670)x3 http://identifiers.org/clinvar/58902 ^@ GRCh38/hg38 2q14.3(chr2:125574480-126753377)x3 http://identifiers.org/clinvar/58903 ^@ GRCh38/hg38 2q21.3(chr2:135123956-135269848)x3 http://identifiers.org/clinvar/58904 ^@ GRCh38/hg38 2q22.1(chr2:136937358-138263550)x3 http://identifiers.org/clinvar/58905 ^@ GRCh38/hg38 2q22.1(chr2:137958553-138500063)x3 http://identifiers.org/clinvar/58906 ^@ GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3 http://identifiers.org/clinvar/58907 ^@ GRCh38/hg38 2q24.3(chr2:165888312-166443535)x3 http://identifiers.org/clinvar/58908 ^@ GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 http://identifiers.org/clinvar/58909 ^@ GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 http://identifiers.org/clinvar/58910 ^@ GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 http://identifiers.org/clinvar/58911 ^@ GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 http://identifiers.org/clinvar/58912 ^@ GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 http://identifiers.org/clinvar/58913 ^@ GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1 http://identifiers.org/clinvar/58914 ^@ GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1 http://identifiers.org/clinvar/58915 ^@ GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1 http://identifiers.org/clinvar/58916 ^@ GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 http://identifiers.org/clinvar/58917 ^@ GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 http://identifiers.org/clinvar/58918 ^@ GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 http://identifiers.org/clinvar/58919 ^@ GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 http://identifiers.org/clinvar/58920 ^@ GRCh38/hg38 11q22.3(chr11:103328808-103570897)x1 http://identifiers.org/clinvar/58921 ^@ GRCh38/hg38 11q22.3(chr11:104510196-105323725)x1 http://identifiers.org/clinvar/58922 ^@ GRCh38/hg38 11q22.3(chr11:105022700-106359486)x1 http://identifiers.org/clinvar/58923 ^@ GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 http://identifiers.org/clinvar/58924 ^@ GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 http://identifiers.org/clinvar/58925 ^@ GRCh38/hg38 7q31.1(chr7:110670875-111199836)x1 http://identifiers.org/clinvar/58926 ^@ GRCh38/hg38 7q31.1(chr7:111693844-112286237)x1 http://identifiers.org/clinvar/58927 ^@ GRCh38/hg38 7q31.1(chr7:112216116-112945352)x1 http://identifiers.org/clinvar/58928 ^@ GRCh38/hg38 7q33(chr7:133385456-133652929)x1 http://identifiers.org/clinvar/58929 ^@ GRCh38/hg38 7q35(chr7:146652508-146770440)x1 http://identifiers.org/clinvar/58930 ^@ GRCh38/hg38 7q35(chr7:146702866-146993921)x1 http://identifiers.org/clinvar/58931 ^@ GRCh38/hg38 7q35(chr7:146754255-146966208)x1 http://identifiers.org/clinvar/58932 ^@ GRCh38/hg38 7q35(chr7:146972827-147058018)x1 http://identifiers.org/clinvar/58933 ^@ GRCh38/hg38 7q36.1(chr7:149551612-149583388)x1 http://identifiers.org/clinvar/58934 ^@ GRCh38/hg38 2q31.3(chr2:179931506-180569863)x3 http://identifiers.org/clinvar/58935 ^@ GRCh38/hg38 2q34-35(chr2:214076320-215057802)x3 http://identifiers.org/clinvar/58936 ^@ GRCh38/hg38 2q35(chr2:214814200-215197772)x3 http://identifiers.org/clinvar/58937 ^@ GRCh38/hg38 2q37.2(chr2:234731742-235717851)x3 http://identifiers.org/clinvar/58938 ^@ GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3 http://identifiers.org/clinvar/58939 ^@ GRCh38/hg38 2q35(chr2:215079289-216799770)x3 http://identifiers.org/clinvar/58940 ^@ GRCh38/hg38 20p13(chr20:828964-1241192)x3 http://identifiers.org/clinvar/58941 ^@ GRCh38/hg38 20p13(chr20:89939-975656)x1 http://identifiers.org/clinvar/58942 ^@ GRCh38/hg38 20p13(chr20:89939-1939218)x1 http://identifiers.org/clinvar/58943 ^@ GRCh38/hg38 20p13(chr20:89939-1770567)x1 http://identifiers.org/clinvar/58944 ^@ GRCh38/hg38 20p13(chr20:89939-1668795)x1 http://identifiers.org/clinvar/58945 ^@ GRCh38/hg38 20p13(chr20:121781-2290194)x1 http://identifiers.org/clinvar/58946 ^@ GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1 http://identifiers.org/clinvar/58947 ^@ GRCh38/hg38 20p12.1-11.23(chr20:13160260-17910332)x1 http://identifiers.org/clinvar/58948 ^@ GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1 http://identifiers.org/clinvar/58949 ^@ GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1 http://identifiers.org/clinvar/58950 ^@ GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1 http://identifiers.org/clinvar/58951 ^@ GRCh38/hg38 11q25(chr11:131587470-134609295)x1 http://identifiers.org/clinvar/58952 ^@ GRCh38/hg38 12p13.33(chr12:99592-1786491)x1 http://identifiers.org/clinvar/58953 ^@ GRCh38/hg38 7q36.3(chr7:158082354-158565728)x1 http://identifiers.org/clinvar/58954 ^@ GRCh38/hg38 7q33(chr7:133577070-133855576)x1 http://identifiers.org/clinvar/58955 ^@ GRCh38/hg38 8p23.3-23.2(chr8:1891352-3929104)x1 http://identifiers.org/clinvar/58956 ^@ GRCh38/hg38 8p23.2(chr8:2605460-3989878)x1 http://identifiers.org/clinvar/58957 ^@ GRCh38/hg38 8p23.2(chr8:3036719-3269970)x1 http://identifiers.org/clinvar/58958 ^@ GRCh38/hg38 8p23.1(chr8:6391161-6451673)x1 http://identifiers.org/clinvar/58959 ^@ GRCh38/hg38 8p22(chr8:16094302-16746208)x1 http://identifiers.org/clinvar/58960 ^@ GRCh38/hg38 8p22(chr8:16095273-16164235)x1 http://identifiers.org/clinvar/58961 ^@ GRCh38/hg38 8p22(chr8:18004389-18497384)x1 http://identifiers.org/clinvar/58962 ^@ GRCh38/hg38 8q11.21(chr8:49301622-51279011)x1 http://identifiers.org/clinvar/58963 ^@ GRCh38/hg38 20p13(chr20:1551830-1883860)x3 http://identifiers.org/clinvar/58964 ^@ GRCh38/hg38 20p13(chr20:2595077-3004837)x3 http://identifiers.org/clinvar/58965 ^@ GRCh38/hg38 20p13(chr20:2911664-4017687)x3 http://identifiers.org/clinvar/58966 ^@ GRCh38/hg38 20p13-12.3(chr20:5030412-5435054)x3 http://identifiers.org/clinvar/58967 ^@ GRCh38/hg38 20p12.3-12.2(chr20:8822784-9314724)x3 http://identifiers.org/clinvar/58968 ^@ GRCh38/hg38 20p12.1(chr20:13599877-13834151)x3 http://identifiers.org/clinvar/58969 ^@ GRCh38/hg38 20p12.1(chr20:13651844-14453786)x3 http://identifiers.org/clinvar/58970 ^@ GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3 http://identifiers.org/clinvar/58971 ^@ GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3 http://identifiers.org/clinvar/58972 ^@ GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 http://identifiers.org/clinvar/58973 ^@ GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1 http://identifiers.org/clinvar/58974 ^@ GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1 http://identifiers.org/clinvar/58975 ^@ GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 http://identifiers.org/clinvar/58976 ^@ GRCh38/hg38 20q13.33(chr20:62561794-63331723)x1 http://identifiers.org/clinvar/58977 ^@ GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1 http://identifiers.org/clinvar/58978 ^@ GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1 http://identifiers.org/clinvar/58979 ^@ GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1 http://identifiers.org/clinvar/58980 ^@ GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1 http://identifiers.org/clinvar/58981 ^@ GRCh37/hg19 21p11.1-q11.2(chr21:10953431-15707444)x1 http://identifiers.org/clinvar/58982 ^@ GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 http://identifiers.org/clinvar/58983 ^@ GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 http://identifiers.org/clinvar/58984 ^@ GRCh38/hg38 12p13.33(chr12:2686912-2733167)x1 http://identifiers.org/clinvar/58985 ^@ GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 http://identifiers.org/clinvar/58986 ^@ GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 http://identifiers.org/clinvar/58987 ^@ GRCh38/hg38 12p12.3(chr12:16019165-17579501)x1 http://identifiers.org/clinvar/58988 ^@ GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 http://identifiers.org/clinvar/58989 ^@ GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 http://identifiers.org/clinvar/58990 ^@ GRCh38/hg38 8q11.21-11.22(chr8:49455206-51671083)x1 http://identifiers.org/clinvar/58991 ^@ GRCh38/hg38 8q11.21(chr8:50478437-50790996)x1 http://identifiers.org/clinvar/58992 ^@ GRCh38/hg38 8q21.11-21.13(chr8:73962355-74749460)x1 http://identifiers.org/clinvar/58993 ^@ GRCh38/hg38 8q21.11(chr8:73962355-74444411)x1 http://identifiers.org/clinvar/58994 ^@ GRCh38/hg38 8q22.2(chr8:98920719-99451919)x1 http://identifiers.org/clinvar/58995 ^@ GRCh38/hg38 8q22.2(chr8:99230249-99332189)x1 http://identifiers.org/clinvar/58996 ^@ GRCh38/hg38 8q23.1(chr8:105449064-105643160)x1 http://identifiers.org/clinvar/58997 ^@ GRCh38/hg38 8q24.13(chr8:124377953-124575712)x1 http://identifiers.org/clinvar/58998 ^@ GRCh38/hg38 20q11.21(chr20:31289875-32302312)x3 http://identifiers.org/clinvar/58999 ^@ GRCh38/hg38 20q13.31(chr20:56566357-56729742)x3 http://identifiers.org/clinvar/59000 ^@ GRCh38/hg38 20q13.31(chr20:56929154-57422442)x3 http://identifiers.org/clinvar/59001 ^@ GRCh38/hg38 20q13.33(chr20:64140190-64277321)x3 http://identifiers.org/clinvar/59002 ^@ GRCh38/hg38 21q22.11(chr21:32597585-32718929)x3 http://identifiers.org/clinvar/59003 ^@ GRCh38/hg38 21q22.11(chr21:33437186-33767838)x3 http://identifiers.org/clinvar/59004 ^@ GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1 http://identifiers.org/clinvar/59005 ^@ GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 http://identifiers.org/clinvar/59006 ^@ GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1 http://identifiers.org/clinvar/59007 ^@ GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1 http://identifiers.org/clinvar/59008 ^@ GRCh38/hg38 21q11.2-21.1(chr21:14971617-17270231)x1 http://identifiers.org/clinvar/59009 ^@ GRCh38/hg38 21q21.1-21.2(chr21:20327525-25398738)x1 http://identifiers.org/clinvar/59010 ^@ GRCh38/hg38 21q21.2-21.3(chr21:24292832-27046585)x1 http://identifiers.org/clinvar/59011 ^@ GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1 http://identifiers.org/clinvar/59012 ^@ GRCh38/hg38 21q22.11(chr21:33465408-33806416)x1 http://identifiers.org/clinvar/59013 ^@ GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 http://identifiers.org/clinvar/59014 ^@ GRCh38/hg38 12p11.23-11.22(chr12:27161598-27642483)x1 http://identifiers.org/clinvar/59015 ^@ GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 http://identifiers.org/clinvar/59016 ^@ GRCh38/hg38 12q12(chr12:39287010-39789020)x1 http://identifiers.org/clinvar/59017 ^@ GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1 http://identifiers.org/clinvar/59018 ^@ GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1 http://identifiers.org/clinvar/59019 ^@ GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 http://identifiers.org/clinvar/59020 ^@ GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 http://identifiers.org/clinvar/59021 ^@ GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1 http://identifiers.org/clinvar/59022 ^@ GRCh38/hg38 12q14.3-15(chr12:65958499-69057308)x1 http://identifiers.org/clinvar/59023 ^@ GRCh38/hg38 12q15(chr12:70029314-70599455)x1 http://identifiers.org/clinvar/59024 ^@ GRCh38/hg38 8q24.22(chr8:133493189-134322208)x1 http://identifiers.org/clinvar/59025 ^@ GRCh38/hg38 8q24.22(chr8:134128215-134266600)x1 http://identifiers.org/clinvar/59026 ^@ GRCh38/hg38 8q24.3(chr8:140060745-140721324)x1 http://identifiers.org/clinvar/59027 ^@ GRCh38/hg38 8q24.3(chr8:140287451-140393615)x1 http://identifiers.org/clinvar/59028 ^@ GRCh38/hg38 8q24.3(chr8:144913443-145076819)x1 http://identifiers.org/clinvar/59029 ^@ GRCh38/hg38 9p24.3(chr9:204193-315028)x1 http://identifiers.org/clinvar/59030 ^@ GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 http://identifiers.org/clinvar/59031 ^@ GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 http://identifiers.org/clinvar/59032 ^@ GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 http://identifiers.org/clinvar/59033 ^@ GRCh38/hg38 21q22.3(chr21:43651490-43783031)x3 http://identifiers.org/clinvar/59034 ^@ GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3 http://identifiers.org/clinvar/59035 ^@ GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3 http://identifiers.org/clinvar/59036 ^@ GRCh38/hg38 21q22.3(chr21:45278163-45430994)x3 http://identifiers.org/clinvar/59037 ^@ GRCh38/hg38 21q22.3(chr21:46019502-46096306)x3 http://identifiers.org/clinvar/59038 ^@ GRCh38/hg38 22q11.22(chr22:21728091-21762392)x3 http://identifiers.org/clinvar/59039 ^@ GRCh38/hg38 22q11.23(chr22:23247480-23670363)x3 http://identifiers.org/clinvar/59040 ^@ GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 http://identifiers.org/clinvar/59041 ^@ GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1 http://identifiers.org/clinvar/59042 ^@ GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 http://identifiers.org/clinvar/59043 ^@ GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 http://identifiers.org/clinvar/59044 ^@ GRCh38/hg38 21q22.3(chr21:44246089-44337776)x1 http://identifiers.org/clinvar/59045 ^@ GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 http://identifiers.org/clinvar/59046 ^@ GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 http://identifiers.org/clinvar/59047 ^@ GRCh38/hg38 9p24.3(chr9:211086-274576)x1 http://identifiers.org/clinvar/59048 ^@ GRCh38/hg38 9p24.3(chr9:220053-295546)x1 http://identifiers.org/clinvar/59049 ^@ GRCh38/hg38 9p24.3(chr9:220253-1243237)x1 http://identifiers.org/clinvar/59050 ^@ GRCh38/hg38 9p24.3(chr9:313298-472145)x1 http://identifiers.org/clinvar/59051 ^@ GRCh38/hg38 9p24.3(chr9:556625-789845)x1 http://identifiers.org/clinvar/59052 ^@ GRCh38/hg38 9p24.2(chr9:2324333-2501030)x1 http://identifiers.org/clinvar/59053 ^@ GRCh38/hg38 9p24.2(chr9:2452325-2700375)x1 http://identifiers.org/clinvar/59054 ^@ GRCh38/hg38 9p24.2(chr9:2682523-2784028)x1 http://identifiers.org/clinvar/59055 ^@ GRCh38/hg38 9p24.2(chr9:3288211-3545454)x1 http://identifiers.org/clinvar/59056 ^@ GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3 http://identifiers.org/clinvar/59057 ^@ GRCh38/hg38 22q12.3(chr22:32940883-33084286)x3 http://identifiers.org/clinvar/59058 ^@ GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3 http://identifiers.org/clinvar/59059 ^@ GRCh38/hg38 22q12.3(chr22:36246060-36313181)x3 http://identifiers.org/clinvar/59060 ^@ GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 http://identifiers.org/clinvar/59061 ^@ GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3 http://identifiers.org/clinvar/59062 ^@ GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 http://identifiers.org/clinvar/59063 ^@ GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1 http://identifiers.org/clinvar/59064 ^@ GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 http://identifiers.org/clinvar/59065 ^@ GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 http://identifiers.org/clinvar/59066 ^@ GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1 http://identifiers.org/clinvar/59067 ^@ GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 http://identifiers.org/clinvar/59068 ^@ GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 http://identifiers.org/clinvar/59069 ^@ GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 http://identifiers.org/clinvar/59070 ^@ GRCh38/hg38 22q11.21(chr22:18902758-19012349)x1 http://identifiers.org/clinvar/59071 ^@ GRCh38/hg38 22q11.21(chr22:18917596-19027938)x1 http://identifiers.org/clinvar/59072 ^@ GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1 http://identifiers.org/clinvar/59073 ^@ GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 http://identifiers.org/clinvar/59074 ^@ GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1 http://identifiers.org/clinvar/59075 ^@ GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1 http://identifiers.org/clinvar/59076 ^@ GRCh38/hg38 22q12.3(chr22:32950725-33413352)x1 http://identifiers.org/clinvar/59077 ^@ GRCh38/hg38 22q12.3(chr22:33380871-33754201)x1 http://identifiers.org/clinvar/59078 ^@ GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 http://identifiers.org/clinvar/59079 ^@ GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 http://identifiers.org/clinvar/59080 ^@ GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 http://identifiers.org/clinvar/59081 ^@ GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 http://identifiers.org/clinvar/59082 ^@ GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 http://identifiers.org/clinvar/59083 ^@ GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3 http://identifiers.org/clinvar/59084 ^@ GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 http://identifiers.org/clinvar/59085 ^@ GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 http://identifiers.org/clinvar/59086 ^@ GRCh38/hg38 9p21.3-21.2(chr9:25325403-25779424)x1 http://identifiers.org/clinvar/59087 ^@ GRCh38/hg38 9q21.13(chr9:74887986-75718195)x1 http://identifiers.org/clinvar/59088 ^@ GRCh38/hg38 9q22.33-31.1(chr9:99465640-100394582)x1 http://identifiers.org/clinvar/59089 ^@ GRCh38/hg38 9q33.1-33.2(chr9:117830627-120064274)x1 http://identifiers.org/clinvar/59090 ^@ GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1 http://identifiers.org/clinvar/59091 ^@ GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1 http://identifiers.org/clinvar/59092 ^@ GRCh38/hg38 9q34.3(chr9:137484248-137696525)x1 http://identifiers.org/clinvar/59093 ^@ GRCh38/hg38 Xp22.33(chrX:803178-953090)x0 http://identifiers.org/clinvar/59094 ^@ GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3 http://identifiers.org/clinvar/59095 ^@ GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3 http://identifiers.org/clinvar/59096 ^@ GRCh38/hg38 22q13.31(chr22:46395546-47339207)x3 http://identifiers.org/clinvar/59097 ^@ GRCh38/hg38 3p26.3(chr3:63843-1209209)x3 http://identifiers.org/clinvar/59098 ^@ GRCh38/hg38 3p26.3(chr3:63843-325628)x3 http://identifiers.org/clinvar/59099 ^@ GRCh38/hg38 3p26.3(chr3:245817-1097280)x3 http://identifiers.org/clinvar/59100 ^@ GRCh38/hg38 3p26.3(chr3:624574-1341994)x3 http://identifiers.org/clinvar/59101 ^@ GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 http://identifiers.org/clinvar/59102 ^@ GRCh38/hg38 9p22.3(chr9:14210805-15317500)x1 http://identifiers.org/clinvar/59103 ^@ GRCh38/hg38 9p21.3(chr9:20380587-20478578)x1 http://identifiers.org/clinvar/59104 ^@ GRCh38/hg38 9p21.3(chr9:21082471-23839529)x1 http://identifiers.org/clinvar/59105 ^@ GRCh38/hg38 9p21.3(chr9:21985058-22809677)x1 http://identifiers.org/clinvar/59106 ^@ GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1 http://identifiers.org/clinvar/59107 ^@ GRCh38/hg38 9q21.13(chr9:72023067-72497412)x1 http://identifiers.org/clinvar/59108 ^@ GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1 http://identifiers.org/clinvar/59109 ^@ GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1 http://identifiers.org/clinvar/59110 ^@ GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 http://identifiers.org/clinvar/59111 ^@ GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 http://identifiers.org/clinvar/59112 ^@ GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 http://identifiers.org/clinvar/59113 ^@ GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 http://identifiers.org/clinvar/59114 ^@ GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 http://identifiers.org/clinvar/59115 ^@ GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 http://identifiers.org/clinvar/59116 ^@ GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 http://identifiers.org/clinvar/59117 ^@ GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 http://identifiers.org/clinvar/59118 ^@ GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1 http://identifiers.org/clinvar/59119 ^@ GRCh38/hg38 9q22.31(chr9:91611565-91870931)x1 http://identifiers.org/clinvar/59120 ^@ GRCh38/hg38 9q22.32(chr9:95046229-96111163)x1 http://identifiers.org/clinvar/59121 ^@ GRCh38/hg38 9q22.32(chr9:95316018-95668838)x1 http://identifiers.org/clinvar/59122 ^@ GRCh38/hg38 9q22.32(chr9:95465690-95468549)x1 http://identifiers.org/clinvar/59123 ^@ GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 http://identifiers.org/clinvar/59124 ^@ GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1 http://identifiers.org/clinvar/59125 ^@ GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 http://identifiers.org/clinvar/59126 ^@ GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 http://identifiers.org/clinvar/59127 ^@ GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 http://identifiers.org/clinvar/59128 ^@ GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3 http://identifiers.org/clinvar/59129 ^@ GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 http://identifiers.org/clinvar/59130 ^@ GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 http://identifiers.org/clinvar/59131 ^@ GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 http://identifiers.org/clinvar/59132 ^@ GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 http://identifiers.org/clinvar/59133 ^@ GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 http://identifiers.org/clinvar/59134 ^@ GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 http://identifiers.org/clinvar/59135 ^@ GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 http://identifiers.org/clinvar/59136 ^@ GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 http://identifiers.org/clinvar/59137 ^@ GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 http://identifiers.org/clinvar/59138 ^@ GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 http://identifiers.org/clinvar/59139 ^@ GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1 http://identifiers.org/clinvar/59140 ^@ GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 http://identifiers.org/clinvar/59141 ^@ GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 http://identifiers.org/clinvar/59142 ^@ GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 http://identifiers.org/clinvar/59143 ^@ GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 http://identifiers.org/clinvar/59144 ^@ GRCh38/hg38 2p21(chr2:41999414-42915744)x3 http://identifiers.org/clinvar/59145 ^@ GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 http://identifiers.org/clinvar/59146 ^@ GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 http://identifiers.org/clinvar/59147 ^@ GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 http://identifiers.org/clinvar/59148 ^@ GRCh38/hg38 2q14.3-21.1(chr2:127440559-129427805)x3 http://identifiers.org/clinvar/59149 ^@ GRCh38/hg38 2q22.3(chr2:144461848-144665266)x3 http://identifiers.org/clinvar/59150 ^@ GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 http://identifiers.org/clinvar/59151 ^@ GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1 http://identifiers.org/clinvar/59152 ^@ GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1 http://identifiers.org/clinvar/59153 ^@ GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1 http://identifiers.org/clinvar/59154 ^@ GRCh38/hg38 9q34.3(chr9:137574369-138041809)x1 http://identifiers.org/clinvar/59155 ^@ GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1 http://identifiers.org/clinvar/59156 ^@ GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1 http://identifiers.org/clinvar/59157 ^@ GRCh38/hg38 9q34.3(chr9:137743457-137836015)x1 http://identifiers.org/clinvar/59158 ^@ GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 http://identifiers.org/clinvar/59159 ^@ GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 http://identifiers.org/clinvar/59160 ^@ GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 http://identifiers.org/clinvar/59161 ^@ GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3 http://identifiers.org/clinvar/59162 ^@ GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3 http://identifiers.org/clinvar/59163 ^@ GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3 http://identifiers.org/clinvar/59164 ^@ GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 http://identifiers.org/clinvar/59165 ^@ GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 http://identifiers.org/clinvar/59166 ^@ GRCh38/hg38 2q36.1(chr2:220837832-221627616)x3 http://identifiers.org/clinvar/59167 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0 http://identifiers.org/clinvar/59168 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 http://identifiers.org/clinvar/59169 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 http://identifiers.org/clinvar/59170 ^@ GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 http://identifiers.org/clinvar/59171 ^@ GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 http://identifiers.org/clinvar/59172 ^@ GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 http://identifiers.org/clinvar/59173 ^@ GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 http://identifiers.org/clinvar/59174 ^@ GRCh38/hg38 2q36.3(chr2:229308268-229952405)x3 http://identifiers.org/clinvar/59175 ^@ GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 http://identifiers.org/clinvar/59176 ^@ GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 http://identifiers.org/clinvar/59177 ^@ GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 http://identifiers.org/clinvar/59178 ^@ GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3 http://identifiers.org/clinvar/59179 ^@ GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3 http://identifiers.org/clinvar/59180 ^@ GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 http://identifiers.org/clinvar/59181 ^@ GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 http://identifiers.org/clinvar/59183 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 http://identifiers.org/clinvar/59186 ^@ GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 http://identifiers.org/clinvar/59187 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 http://identifiers.org/clinvar/59188 ^@ GRCh38/hg38 Xp22.33(chrX:27245-270490)x1 http://identifiers.org/clinvar/59189 ^@ GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 http://identifiers.org/clinvar/59190 ^@ GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 http://identifiers.org/clinvar/59191 ^@ GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 http://identifiers.org/clinvar/59192 ^@ GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 http://identifiers.org/clinvar/59193 ^@ GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 http://identifiers.org/clinvar/59194 ^@ GRCh38/hg38 20p13(chr20:3059231-4187716)x3 http://identifiers.org/clinvar/59195 ^@ GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 http://identifiers.org/clinvar/59196 ^@ GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3 http://identifiers.org/clinvar/59197 ^@ GRCh38/hg38 20p11.21(chr20:23455796-24880833)x3 http://identifiers.org/clinvar/59198 ^@ GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 http://identifiers.org/clinvar/59199 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 http://identifiers.org/clinvar/59200 ^@ GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 http://identifiers.org/clinvar/59201 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 http://identifiers.org/clinvar/59202 ^@ GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 http://identifiers.org/clinvar/59203 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:2777300-10034145)x1 http://identifiers.org/clinvar/59204 ^@ GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1 http://identifiers.org/clinvar/59205 ^@ GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 http://identifiers.org/clinvar/59206 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 http://identifiers.org/clinvar/59207 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 http://identifiers.org/clinvar/59208 ^@ GRCh38/hg38 Xp22.33(chrX:2960878-3567038)x0 http://identifiers.org/clinvar/59209 ^@ GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 http://identifiers.org/clinvar/59210 ^@ GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 http://identifiers.org/clinvar/59211 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 http://identifiers.org/clinvar/59212 ^@ GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1 http://identifiers.org/clinvar/59213 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 http://identifiers.org/clinvar/59214 ^@ GRCh38/hg38 Xp22.31(chrX:6534166-8181150)x0 http://identifiers.org/clinvar/59215 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/59216 ^@ GRCh38/hg38 Xp22.31(chrX:6534166-8158120)x0 http://identifiers.org/clinvar/59217 ^@ GRCh38/hg38 Xp22.31(chrX:6536991-8163769)x1 http://identifiers.org/clinvar/59218 ^@ GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 http://identifiers.org/clinvar/59219 ^@ GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3 http://identifiers.org/clinvar/59220 ^@ GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3 http://identifiers.org/clinvar/59221 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 http://identifiers.org/clinvar/59222 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 http://identifiers.org/clinvar/59223 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 http://identifiers.org/clinvar/59224 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 http://identifiers.org/clinvar/59225 ^@ GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3 http://identifiers.org/clinvar/59226 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 http://identifiers.org/clinvar/59227 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 http://identifiers.org/clinvar/59228 ^@ GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 http://identifiers.org/clinvar/59229 ^@ GRCh38/hg38 Xp22.31(chrX:6570480-8129611)x0 http://identifiers.org/clinvar/59230 ^@ GRCh38/hg38 22q11.21(chr22:20354600-21053401)x1 http://identifiers.org/clinvar/59231 ^@ GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x0 http://identifiers.org/clinvar/59232 ^@ GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1 http://identifiers.org/clinvar/59233 ^@ GRCh38/hg38 Xp22.31(chrX:6832908-6906043)x1 http://identifiers.org/clinvar/59234 ^@ GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1 http://identifiers.org/clinvar/59235 ^@ GRCh38/hg38 Xp22.31-22.2(chrX:8327550-10980235)x1 http://identifiers.org/clinvar/59236 ^@ GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 http://identifiers.org/clinvar/59237 ^@ GRCh38/hg38 22q11.21(chr22:20711594-21101267)x1 http://identifiers.org/clinvar/59238 ^@ GRCh38/hg38 Xp22.2-22.13(chrX:17167171-18804175)x1 http://identifiers.org/clinvar/59239 ^@ GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 http://identifiers.org/clinvar/59240 ^@ GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0 http://identifiers.org/clinvar/59241 ^@ GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 http://identifiers.org/clinvar/59242 ^@ GRCh38/hg38 Xp21.3-21.2(chrX:29128906-29515069)x1 http://identifiers.org/clinvar/59243 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 http://identifiers.org/clinvar/59244 ^@ GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3 http://identifiers.org/clinvar/59245 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 http://identifiers.org/clinvar/59246 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 http://identifiers.org/clinvar/59247 ^@ GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 http://identifiers.org/clinvar/59248 ^@ GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 http://identifiers.org/clinvar/59249 ^@ GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3 http://identifiers.org/clinvar/59250 ^@ GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3 http://identifiers.org/clinvar/59251 ^@ GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 http://identifiers.org/clinvar/59252 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 http://identifiers.org/clinvar/59253 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 http://identifiers.org/clinvar/59254 ^@ GRCh38/hg38 Xp21.3-21.2(chrX:29207382-29910715)x0 http://identifiers.org/clinvar/59255 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 http://identifiers.org/clinvar/59256 ^@ GRCh38/hg38 Xp21.1(chrX:31632068-31954142)x0 http://identifiers.org/clinvar/59257 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 http://identifiers.org/clinvar/59258 ^@ GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0 http://identifiers.org/clinvar/59259 ^@ GRCh38/hg38 Xp21.1(chrX:31665506-32110950)x0 http://identifiers.org/clinvar/59260 ^@ GRCh38/hg38 Xp21.1(chrX:31745624-31876916)x1 http://identifiers.org/clinvar/59261 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 http://identifiers.org/clinvar/59262 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 http://identifiers.org/clinvar/59263 ^@ GRCh38/hg38 Xp21.1(chrX:32432957-32823439)x1 http://identifiers.org/clinvar/59264 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 http://identifiers.org/clinvar/59265 ^@ GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 http://identifiers.org/clinvar/59266 ^@ GRCh38/hg38 Xp11.4(chrX:41534941-41915080)x1 http://identifiers.org/clinvar/59267 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 http://identifiers.org/clinvar/59268 ^@ GRCh38/hg38 Xp11.4(chrX:41615487-41836444)x1 http://identifiers.org/clinvar/59269 ^@ GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)x1 http://identifiers.org/clinvar/59270 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3 http://identifiers.org/clinvar/59271 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 http://identifiers.org/clinvar/59272 ^@ GRCh38/hg38 16p13.11(chr16:15187330-16281234)x3 http://identifiers.org/clinvar/59273 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3 http://identifiers.org/clinvar/59274 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 http://identifiers.org/clinvar/59275 ^@ GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3 http://identifiers.org/clinvar/59276 ^@ GRCh38/hg38 22q11.1-11.21(chr22:11119188-16489297)x3 http://identifiers.org/clinvar/59277 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3 http://identifiers.org/clinvar/59278 ^@ GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 http://identifiers.org/clinvar/59279 ^@ GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 http://identifiers.org/clinvar/59280 ^@ GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3 http://identifiers.org/clinvar/59281 ^@ GRCh38/hg38 22q11.21(chr22:20946002-20976899)x3 http://identifiers.org/clinvar/59282 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1 http://identifiers.org/clinvar/59283 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 http://identifiers.org/clinvar/59284 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22651209-23299955)x1 http://identifiers.org/clinvar/59285 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1 http://identifiers.org/clinvar/59286 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22686122-23315617)x1 http://identifiers.org/clinvar/59287 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1 http://identifiers.org/clinvar/59288 ^@ GRCh38/hg38 3q29(chr3:196035777-197658540)x1 http://identifiers.org/clinvar/59289 ^@ GRCh38/hg38 3q29(chr3:196035777-197625573)x1 http://identifiers.org/clinvar/59290 ^@ GRCh38/hg38 16p12.2(chr16:21299678-22396751)x3 http://identifiers.org/clinvar/59291 ^@ GRCh38/hg38 16p12.2(chr16:21463739-22634444)x3 http://identifiers.org/clinvar/59292 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3 http://identifiers.org/clinvar/59293 ^@ GRCh38/hg38 16p11.2(chr16:28589904-29030797)x3 http://identifiers.org/clinvar/59294 ^@ GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3 http://identifiers.org/clinvar/59295 ^@ GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3 http://identifiers.org/clinvar/59296 ^@ GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3 http://identifiers.org/clinvar/59297 ^@ GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3 http://identifiers.org/clinvar/59298 ^@ GRCh38/hg38 3q29(chr3:196077857-197693741)x1 http://identifiers.org/clinvar/59299 ^@ GRCh38/hg38 3q29(chr3:196280954-197590232)x1 http://identifiers.org/clinvar/59300 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 http://identifiers.org/clinvar/59301 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 http://identifiers.org/clinvar/59302 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 http://identifiers.org/clinvar/59303 ^@ GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 http://identifiers.org/clinvar/59304 ^@ GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 http://identifiers.org/clinvar/59305 ^@ GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1 http://identifiers.org/clinvar/59306 ^@ GRCh38/hg38 17q11.2(chr17:30650145-31015565)x3 http://identifiers.org/clinvar/59307 ^@ NM_203400.4(RPRML):c.(?_-11396)_*(535263_?)dup http://identifiers.org/clinvar/59308 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3 http://identifiers.org/clinvar/59309 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3 http://identifiers.org/clinvar/59310 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3 http://identifiers.org/clinvar/59311 ^@ GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3 http://identifiers.org/clinvar/59312 ^@ GRCh38/hg38 2q11.2(chr2:96100612-97285797)x3 http://identifiers.org/clinvar/59313 ^@ GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 http://identifiers.org/clinvar/59315 ^@ GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1 http://identifiers.org/clinvar/59316 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1 http://identifiers.org/clinvar/59317 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3 http://identifiers.org/clinvar/59318 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1 http://identifiers.org/clinvar/59319 ^@ GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1 http://identifiers.org/clinvar/59320 ^@ GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3 http://identifiers.org/clinvar/59321 ^@ GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1 http://identifiers.org/clinvar/59322 ^@ GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1 http://identifiers.org/clinvar/59323 ^@ GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3 http://identifiers.org/clinvar/59324 ^@ GRCh38/hg38 2q13-14.1(chr2:110684353-112308343)x3 http://identifiers.org/clinvar/59325 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 http://identifiers.org/clinvar/59326 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 http://identifiers.org/clinvar/59327 ^@ GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 http://identifiers.org/clinvar/59328 ^@ GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 http://identifiers.org/clinvar/59329 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 http://identifiers.org/clinvar/59330 ^@ GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 http://identifiers.org/clinvar/59331 ^@ GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 http://identifiers.org/clinvar/59332 ^@ GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 http://identifiers.org/clinvar/59333 ^@ GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1 http://identifiers.org/clinvar/59334 ^@ GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1 http://identifiers.org/clinvar/59335 ^@ GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1 http://identifiers.org/clinvar/59337 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 http://identifiers.org/clinvar/59338 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/59339 ^@ GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 http://identifiers.org/clinvar/59340 ^@ GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 http://identifiers.org/clinvar/59341 ^@ GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 http://identifiers.org/clinvar/59342 ^@ GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 http://identifiers.org/clinvar/59343 ^@ GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 http://identifiers.org/clinvar/59344 ^@ GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 http://identifiers.org/clinvar/59345 ^@ GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 http://identifiers.org/clinvar/59346 ^@ GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 http://identifiers.org/clinvar/59347 ^@ GRCh38/hg38 Xp11.23(chrX:48003345-48153696)x2 http://identifiers.org/clinvar/59348 ^@ GRCh38/hg38 1p36.22(chr1:11684360-11885011)x1 http://identifiers.org/clinvar/59349 ^@ GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 http://identifiers.org/clinvar/59350 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3 http://identifiers.org/clinvar/59351 ^@ NM_002614.4(PDZK1):c.*(?_745)_*(?_2988645)dup http://identifiers.org/clinvar/59352 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 http://identifiers.org/clinvar/59353 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145601946-146944906)x3 http://identifiers.org/clinvar/59354 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/59355 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148287692)x3 http://identifiers.org/clinvar/59356 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x3 http://identifiers.org/clinvar/59357 ^@ GRCh38/hg38 1p36.11(chr1:25258106-25441156)x1 http://identifiers.org/clinvar/59358 ^@ GRCh38/hg38 1p32.1-31.3(chr1:59871038-62029355)x1 http://identifiers.org/clinvar/59359 ^@ GRCh38/hg38 1p31.3(chr1:61836641-62038677)x1 http://identifiers.org/clinvar/59360 ^@ GRCh38/hg38 1p31.3(chr1:65969909-66128534)x1 http://identifiers.org/clinvar/59361 ^@ GRCh38/hg38 1p31.3(chr1:66026161-66280387)x1 http://identifiers.org/clinvar/59362 ^@ GRCh38/hg38 1p31.1(chr1:69920772-70178934)x1 http://identifiers.org/clinvar/59363 ^@ GRCh38/hg38 1p31.1(chr1:71259258-71498818)x1 http://identifiers.org/clinvar/59364 ^@ GRCh38/hg38 1p21.3(chr1:94471888-94588229)x1 http://identifiers.org/clinvar/59365 ^@ GRCh38/hg38 1p21.1(chr1:104826959-105586926)x1 http://identifiers.org/clinvar/59366 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 http://identifiers.org/clinvar/59367 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147055789-148328747)x3 http://identifiers.org/clinvar/59368 ^@ GRCh38/hg38 1q21.1-21.2(chr1:147099720-148273480)x3 http://identifiers.org/clinvar/59369 ^@ GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 http://identifiers.org/clinvar/59370 ^@ GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 http://identifiers.org/clinvar/59371 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/59372 ^@ GRCh38/hg38 1q21.1(chr1:145688094-145788062)x1 http://identifiers.org/clinvar/59373 ^@ GRCh38/hg38 1q21.3(chr1:153699434-153981614)x1 http://identifiers.org/clinvar/59374 ^@ GRCh38/hg38 1q23.3-24.1(chr1:164547546-165689403)x1 http://identifiers.org/clinvar/59375 ^@ GRCh38/hg38 1q31.1(chr1:187570860-188941313)x1 http://identifiers.org/clinvar/59376 ^@ GRCh38/hg38 1q42.13(chr1:229182714-229409383)x1 http://identifiers.org/clinvar/59377 ^@ GRCh38/hg38 1q42.2(chr1:231950293-232057038)x1 http://identifiers.org/clinvar/59378 ^@ GRCh38/hg38 1q43-44(chr1:243225391-243572999)x1 http://identifiers.org/clinvar/59379 ^@ GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1 http://identifiers.org/clinvar/59380 ^@ GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 http://identifiers.org/clinvar/59381 ^@ GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 http://identifiers.org/clinvar/59382 ^@ GRCh38/hg38 15q24.2(chr15:75307767-75727625)x1 http://identifiers.org/clinvar/59383 ^@ GRCh38/hg38 15q24.2(chr15:75432164-75626896)x1 http://identifiers.org/clinvar/59384 ^@ GRCh38/hg38 15q24.2(chr15:75596961-76049787)x1 http://identifiers.org/clinvar/59385 ^@ GRCh38/hg38 15q26.1(chr15:92170113-93438995)x1 http://identifiers.org/clinvar/59386 ^@ GRCh38/hg38 15q11.2-12(chr15:23319714-27051075)x3 http://identifiers.org/clinvar/59387 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 http://identifiers.org/clinvar/59388 ^@ GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 http://identifiers.org/clinvar/59389 ^@ GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 http://identifiers.org/clinvar/59390 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 http://identifiers.org/clinvar/59391 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 http://identifiers.org/clinvar/59392 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 http://identifiers.org/clinvar/59393 ^@ GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 http://identifiers.org/clinvar/59394 ^@ GRCh38/hg38 1q43-44(chr1:243264206-243677283)x1 http://identifiers.org/clinvar/59395 ^@ GRCh38/hg38 1q43-44(chr1:243264206-243716856)x1 http://identifiers.org/clinvar/59396 ^@ GRCh38/hg38 1q43-44(chr1:243395234-243719262)x1 http://identifiers.org/clinvar/59397 ^@ GRCh38/hg38 10p15.3(chr10:14062-622709)x1 http://identifiers.org/clinvar/59398 ^@ GRCh38/hg38 10q21.2(chr10:61723883-62009346)x1 http://identifiers.org/clinvar/59399 ^@ GRCh38/hg38 10q21.3(chr10:66544198-66756820)x1 http://identifiers.org/clinvar/59400 ^@ GRCh38/hg38 10q23.1(chr10:82322554-82359096)x1 http://identifiers.org/clinvar/59401 ^@ GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1 http://identifiers.org/clinvar/59402 ^@ GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 http://identifiers.org/clinvar/59403 ^@ GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1 http://identifiers.org/clinvar/59404 ^@ GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1 http://identifiers.org/clinvar/59405 ^@ GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1 http://identifiers.org/clinvar/59406 ^@ GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1 http://identifiers.org/clinvar/59407 ^@ GRCh38/hg38 15q26.3(chr15:100126374-101843270)x1 http://identifiers.org/clinvar/59408 ^@ GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1 http://identifiers.org/clinvar/59409 ^@ GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 http://identifiers.org/clinvar/59410 ^@ GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 http://identifiers.org/clinvar/59411 ^@ GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 http://identifiers.org/clinvar/59412 ^@ GRCh38/hg38 10q26.3(chr10:129904929-130552922)x1 http://identifiers.org/clinvar/59413 ^@ GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1 http://identifiers.org/clinvar/59414 ^@ GRCh38/hg38 11p11.2(chr11:44114130-44171722)x1 http://identifiers.org/clinvar/59415 ^@ GRCh38/hg38 11q22.1(chr11:97402156-98439199)x1 http://identifiers.org/clinvar/59416 ^@ GRCh38/hg38 11q22.3(chr11:106890007-107286088)x1 http://identifiers.org/clinvar/59417 ^@ GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 http://identifiers.org/clinvar/59418 ^@ GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 http://identifiers.org/clinvar/59419 ^@ GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 http://identifiers.org/clinvar/59420 ^@ GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 http://identifiers.org/clinvar/59421 ^@ GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1 http://identifiers.org/clinvar/59422 ^@ GRCh38/hg38 4p13-12(chr4:44297326-45198683)x1 http://identifiers.org/clinvar/59423 ^@ GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1 http://identifiers.org/clinvar/59424 ^@ GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1 http://identifiers.org/clinvar/59425 ^@ GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 http://identifiers.org/clinvar/59426 ^@ GRCh38/hg38 16p13.3(chr16:152050-180589)x1 http://identifiers.org/clinvar/59427 ^@ GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1 http://identifiers.org/clinvar/59428 ^@ GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 http://identifiers.org/clinvar/59429 ^@ GRCh38/hg38 16p13.3(chr16:3607087-3877320)x1 http://identifiers.org/clinvar/59430 ^@ GRCh38/hg38 16p13.3(chr16:3665835-3727120)x1 http://identifiers.org/clinvar/59431 ^@ GRCh38/hg38 16p13.3(chr16:3861794-3904192)x1 http://identifiers.org/clinvar/59432 ^@ GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 http://identifiers.org/clinvar/59433 ^@ GRCh38/hg38 16p13.3-13.2(chr16:5589104-8091212)x1 http://identifiers.org/clinvar/59434 ^@ GRCh38/hg38 12p13.33(chr12:77187-356623)x1 http://identifiers.org/clinvar/59435 ^@ GRCh38/hg38 12p12.2-12.1(chr12:20855565-21224388)x1 http://identifiers.org/clinvar/59436 ^@ GRCh38/hg38 12p12.1(chr12:23815416-24068288)x1 http://identifiers.org/clinvar/59437 ^@ GRCh38/hg38 12p11.21(chr12:32104351-32622343)x1 http://identifiers.org/clinvar/59438 ^@ GRCh38/hg38 12p11.21(chr12:32813258-32845018)x1 http://identifiers.org/clinvar/59439 ^@ GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1 http://identifiers.org/clinvar/59440 ^@ GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1 http://identifiers.org/clinvar/59441 ^@ GRCh38/hg38 5q11.2(chr5:53332485-57152396)x3 http://identifiers.org/clinvar/59442 ^@ GRCh38/hg38 5q14.3(chr5:90590733-90849185)x3 http://identifiers.org/clinvar/59443 ^@ GRCh38/hg38 5q15(chr5:93405010-97716265)x3 http://identifiers.org/clinvar/59444 ^@ GRCh38/hg38 5q15(chr5:96792139-96966998)x3 http://identifiers.org/clinvar/59445 ^@ GRCh38/hg38 5q15(chr5:97716206-98876426)x3 http://identifiers.org/clinvar/59446 ^@ GRCh38/hg38 5q21.2(chr5:104146369-104914103)x3 http://identifiers.org/clinvar/59447 ^@ GRCh38/hg38 5q22.1(chr5:110564896-111731572)x3 http://identifiers.org/clinvar/59448 ^@ GRCh38/hg38 5q23.1(chr5:116732695-118380159)x3 http://identifiers.org/clinvar/59449 ^@ GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3 http://identifiers.org/clinvar/59450 ^@ GRCh38/hg38 5q23.2(chr5:123993342-125133288)x3 http://identifiers.org/clinvar/59451 ^@ GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 http://identifiers.org/clinvar/59452 ^@ GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 http://identifiers.org/clinvar/59453 ^@ GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 http://identifiers.org/clinvar/59454 ^@ GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 http://identifiers.org/clinvar/59455 ^@ GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 http://identifiers.org/clinvar/59456 ^@ GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1 http://identifiers.org/clinvar/59457 ^@ GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1 http://identifiers.org/clinvar/59458 ^@ GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1 http://identifiers.org/clinvar/59459 ^@ GRCh38/hg38 16p13.3(chr16:5959600-6121461)x1 http://identifiers.org/clinvar/59460 ^@ GRCh38/hg38 16p13.3(chr16:6245158-6327302)x1 http://identifiers.org/clinvar/59461 ^@ GRCh38/hg38 16p13.3(chr16:6305477-6373270)x1 http://identifiers.org/clinvar/59462 ^@ GRCh38/hg38 16p13.3(chr16:6327243-7195429)x1 http://identifiers.org/clinvar/59463 ^@ GRCh38/hg38 16p13.3(chr16:6698766-7028200)x1 http://identifiers.org/clinvar/59464 ^@ GRCh38/hg38 16p13.3(chr16:6717241-7051313)x3 http://identifiers.org/clinvar/59465 ^@ GRCh38/hg38 16p13.3(chr16:6717241-7051313)x1 http://identifiers.org/clinvar/59466 ^@ GRCh38/hg38 16p13.11-12.3(chr16:15457445-17169859)x1 http://identifiers.org/clinvar/59467 ^@ GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 http://identifiers.org/clinvar/59468 ^@ GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 http://identifiers.org/clinvar/59469 ^@ GRCh38/hg38 5q23.3(chr5:128288872-128630392)x3 http://identifiers.org/clinvar/59470 ^@ GRCh38/hg38 5q31.1(chr5:132301874-134187817)x3 http://identifiers.org/clinvar/59471 ^@ GRCh38/hg38 5q31.1(chr5:134873523-135297352)x3 http://identifiers.org/clinvar/59472 ^@ GRCh38/hg38 5q33.1(chr5:151913103-151951536)x3 http://identifiers.org/clinvar/59473 ^@ GRCh38/hg38 5q33.3(chr5:156991620-157210423)x3 http://identifiers.org/clinvar/59474 ^@ GRCh38/hg38 5q35.3(chr5:179242296-179562686)x3 http://identifiers.org/clinvar/59475 ^@ GRCh38/hg38 5q35.3(chr5:179680598-180161082)x3 http://identifiers.org/clinvar/59476 ^@ GRCh38/hg38 6p25.3(chr6:163083-588213)x3 http://identifiers.org/clinvar/59477 ^@ GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1 http://identifiers.org/clinvar/59478 ^@ GRCh38/hg38 4q22.3-23(chr4:94954967-98967243)x1 http://identifiers.org/clinvar/59479 ^@ GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 http://identifiers.org/clinvar/59480 ^@ GRCh38/hg38 4q28.1(chr4:124055204-126331108)x1 http://identifiers.org/clinvar/59481 ^@ GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1 http://identifiers.org/clinvar/59482 ^@ GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1 http://identifiers.org/clinvar/59483 ^@ GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 http://identifiers.org/clinvar/59484 ^@ GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1 http://identifiers.org/clinvar/59485 ^@ GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 http://identifiers.org/clinvar/59486 ^@ GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1 http://identifiers.org/clinvar/59487 ^@ GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 http://identifiers.org/clinvar/59488 ^@ GRCh38/hg38 16q12.1(chr16:48156593-52220374)x1 http://identifiers.org/clinvar/59489 ^@ GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1 http://identifiers.org/clinvar/59490 ^@ GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1 http://identifiers.org/clinvar/59491 ^@ GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 http://identifiers.org/clinvar/59492 ^@ GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 http://identifiers.org/clinvar/59493 ^@ GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 http://identifiers.org/clinvar/59494 ^@ GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 http://identifiers.org/clinvar/59495 ^@ GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1 http://identifiers.org/clinvar/59496 ^@ GRCh38/hg38 6p25.3-25.2(chr6:1796838-2854327)x3 http://identifiers.org/clinvar/59497 ^@ GRCh38/hg38 6p25.2(chr6:3417286-4140023)x3 http://identifiers.org/clinvar/59498 ^@ GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3 http://identifiers.org/clinvar/59499 ^@ GRCh38/hg38 6p22.3(chr6:16447921-16825336)x3 http://identifiers.org/clinvar/59500 ^@ GRCh38/hg38 6p21.1(chr6:44993452-46061865)x3 http://identifiers.org/clinvar/59501 ^@ GRCh38/hg38 6p21.1(chr6:45507351-46014903)x3 http://identifiers.org/clinvar/59502 ^@ GRCh38/hg38 6q11.1-12(chr6:62234444-62861772)x3 http://identifiers.org/clinvar/59503 ^@ GRCh38/hg38 6q11.1-12(chr6:62375491-62988572)x3 http://identifiers.org/clinvar/59504 ^@ GRCh38/hg38 6q14.2-14.3(chr6:83656740-84305263)x3 http://identifiers.org/clinvar/59505 ^@ GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 http://identifiers.org/clinvar/59506 ^@ GRCh38/hg38 4q32.3-34.1(chr4:167851017-172200428)x1 http://identifiers.org/clinvar/59507 ^@ GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 http://identifiers.org/clinvar/59508 ^@ GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1 http://identifiers.org/clinvar/59509 ^@ GRCh38/hg38 4q34.1(chr4:172101363-173820899)x1 http://identifiers.org/clinvar/59510 ^@ GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 http://identifiers.org/clinvar/59511 ^@ GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 http://identifiers.org/clinvar/59512 ^@ GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1 http://identifiers.org/clinvar/59513 ^@ GRCh38/hg38 4q34.1-34.3(chr4:175013055-181652375)x1 http://identifiers.org/clinvar/59514 ^@ GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 http://identifiers.org/clinvar/59515 ^@ GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 http://identifiers.org/clinvar/59516 ^@ GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1 http://identifiers.org/clinvar/59517 ^@ GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 http://identifiers.org/clinvar/59518 ^@ GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 http://identifiers.org/clinvar/59519 ^@ GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 http://identifiers.org/clinvar/59520 ^@ GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 http://identifiers.org/clinvar/59521 ^@ GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1 http://identifiers.org/clinvar/59522 ^@ GRCh38/hg38 6q14.2-14.3(chr6:83680568-84270992)x3 http://identifiers.org/clinvar/59523 ^@ GRCh38/hg38 6q14.3(chr6:86044776-86906081)x3 http://identifiers.org/clinvar/59524 ^@ GRCh38/hg38 6q21(chr6:106143607-106716817)x3 http://identifiers.org/clinvar/59525 ^@ GRCh38/hg38 6q22.1(chr6:115532759-116166844)x3 http://identifiers.org/clinvar/59526 ^@ GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3 http://identifiers.org/clinvar/59527 ^@ GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3 http://identifiers.org/clinvar/59528 ^@ GRCh38/hg38 6q22.31(chr6:118229864-118723034)x3 http://identifiers.org/clinvar/59529 ^@ GRCh38/hg38 6q22.31(chr6:118390687-118736132)x3 http://identifiers.org/clinvar/59530 ^@ GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3 http://identifiers.org/clinvar/59531 ^@ GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 http://identifiers.org/clinvar/59532 ^@ GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 http://identifiers.org/clinvar/59533 ^@ GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 http://identifiers.org/clinvar/59534 ^@ GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 http://identifiers.org/clinvar/59535 ^@ GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 http://identifiers.org/clinvar/59536 ^@ GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 http://identifiers.org/clinvar/59537 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 http://identifiers.org/clinvar/59538 ^@ GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1 http://identifiers.org/clinvar/59539 ^@ GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1 http://identifiers.org/clinvar/59540 ^@ GRCh38/hg38 16q24.3(chr16:89154317-89195486)x1 http://identifiers.org/clinvar/59541 ^@ GRCh38/hg38 16q24.3(chr16:89225411-89530534)x1 http://identifiers.org/clinvar/59542 ^@ GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 http://identifiers.org/clinvar/59543 ^@ GRCh38/hg38 17p13.3(chr17:193307-1376276)x1 http://identifiers.org/clinvar/59544 ^@ GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 http://identifiers.org/clinvar/59545 ^@ GRCh38/hg38 6q23.2(chr6:132455272-133141153)x3 http://identifiers.org/clinvar/59546 ^@ GRCh38/hg38 6q24.1(chr6:140736189-141544222)x3 http://identifiers.org/clinvar/59547 ^@ GRCh38/hg38 6q24.1(chr6:140828962-141361366)x3 http://identifiers.org/clinvar/59548 ^@ GRCh38/hg38 6q26(chr6:161289959-162789916)x3 http://identifiers.org/clinvar/59549 ^@ GRCh38/hg38 6q26(chr6:161841164-162004649)x3 http://identifiers.org/clinvar/59550 ^@ GRCh38/hg38 6q27(chr6:166907168-167368489)x3 http://identifiers.org/clinvar/59551 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1 http://identifiers.org/clinvar/59552 ^@ GRCh38/hg38 4q35.1-35.2(chr4:185498280-186984787)x1 http://identifiers.org/clinvar/59553 ^@ GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 http://identifiers.org/clinvar/59554 ^@ GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 http://identifiers.org/clinvar/59555 ^@ GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 http://identifiers.org/clinvar/59556 ^@ GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 http://identifiers.org/clinvar/59557 ^@ GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 http://identifiers.org/clinvar/59558 ^@ GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 http://identifiers.org/clinvar/59559 ^@ GRCh38/hg38 17p13.3(chr17:855404-1345517)x1 http://identifiers.org/clinvar/59560 ^@ GRCh38/hg38 17p13.3(chr17:1281181-1541624)x1 http://identifiers.org/clinvar/59561 ^@ GRCh38/hg38 17p13.3(chr17:2436067-2818828)x1 http://identifiers.org/clinvar/59562 ^@ GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1 http://identifiers.org/clinvar/59563 ^@ GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 http://identifiers.org/clinvar/59564 ^@ GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 http://identifiers.org/clinvar/59565 ^@ GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 http://identifiers.org/clinvar/59566 ^@ GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4 http://identifiers.org/clinvar/59567 ^@ GRCh38/hg38 7p21.3(chr7:10691723-11375132)x3 http://identifiers.org/clinvar/59568 ^@ GRCh38/hg38 7p21.1(chr7:16838053-17672667)x3 http://identifiers.org/clinvar/59569 ^@ GRCh38/hg38 7p21.1(chr7:17034713-17544671)x3 http://identifiers.org/clinvar/59570 ^@ GRCh38/hg38 7p21.1(chr7:17183146-17612077)x3 http://identifiers.org/clinvar/59571 ^@ GRCh38/hg38 7p21.1(chr7:19054701-19321593)x3 http://identifiers.org/clinvar/59572 ^@ GRCh38/hg38 7p21.1(chr7:19066144-19263328)x3 http://identifiers.org/clinvar/59573 ^@ GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 http://identifiers.org/clinvar/59574 ^@ GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 http://identifiers.org/clinvar/59575 ^@ GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 http://identifiers.org/clinvar/59576 ^@ GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 http://identifiers.org/clinvar/59577 ^@ GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 http://identifiers.org/clinvar/59578 ^@ GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 http://identifiers.org/clinvar/59579 ^@ GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 http://identifiers.org/clinvar/59580 ^@ GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 http://identifiers.org/clinvar/59581 ^@ GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 http://identifiers.org/clinvar/59582 ^@ GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 http://identifiers.org/clinvar/59583 ^@ GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 http://identifiers.org/clinvar/59584 ^@ GRCh38/hg38 17p11.2(chr17:17726750-17797183)x1 http://identifiers.org/clinvar/59585 ^@ GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1 http://identifiers.org/clinvar/59586 ^@ GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1 http://identifiers.org/clinvar/59587 ^@ GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1 http://identifiers.org/clinvar/59588 ^@ GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1 http://identifiers.org/clinvar/59589 ^@ GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 http://identifiers.org/clinvar/59590 ^@ GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 http://identifiers.org/clinvar/59591 ^@ GRCh38/hg38 17q22(chr17:56958745-58171125)x1 http://identifiers.org/clinvar/59592 ^@ GRCh38/hg38 7p15.3(chr7:22680265-23369688)x3 http://identifiers.org/clinvar/59593 ^@ GRCh38/hg38 7p15.2(chr7:27107301-27314586)x3 http://identifiers.org/clinvar/59594 ^@ GRCh38/hg38 7p14.3(chr7:33130103-33146967)x3 http://identifiers.org/clinvar/59595 ^@ GRCh38/hg38 7p12.3(chr7:47843159-48156272)x3 http://identifiers.org/clinvar/59596 ^@ GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3 http://identifiers.org/clinvar/59597 ^@ GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3 http://identifiers.org/clinvar/59598 ^@ GRCh38/hg38 7p11.2(chr7:54724764-55037899)x3 http://identifiers.org/clinvar/59599 ^@ GRCh38/hg38 7q11.21(chr7:65906534-66769743)x3 http://identifiers.org/clinvar/59600 ^@ GRCh38/hg38 7q11.22(chr7:70509663-71957634)x3 http://identifiers.org/clinvar/59601 ^@ GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 http://identifiers.org/clinvar/59602 ^@ GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 http://identifiers.org/clinvar/59603 ^@ GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 http://identifiers.org/clinvar/59604 ^@ GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1 http://identifiers.org/clinvar/59605 ^@ GRCh38/hg38 5p14.3-14.1(chr5:23279693-26849830)x1 http://identifiers.org/clinvar/59606 ^@ GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1 http://identifiers.org/clinvar/59607 ^@ GRCh38/hg38 5p13.2(chr5:36834830-36906334)x1 http://identifiers.org/clinvar/59608 ^@ GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 http://identifiers.org/clinvar/59609 ^@ GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1 http://identifiers.org/clinvar/59610 ^@ GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1 http://identifiers.org/clinvar/59611 ^@ GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1 http://identifiers.org/clinvar/59612 ^@ GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1 http://identifiers.org/clinvar/59613 ^@ GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1 http://identifiers.org/clinvar/59614 ^@ GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 http://identifiers.org/clinvar/59615 ^@ GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 http://identifiers.org/clinvar/59616 ^@ GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1 http://identifiers.org/clinvar/59617 ^@ GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 http://identifiers.org/clinvar/59618 ^@ GRCh38/hg38 7q11.23(chr7:74163876-74593260)x3 http://identifiers.org/clinvar/59619 ^@ GRCh38/hg38 7q11.23(chr7:74394863-74725240)x3 http://identifiers.org/clinvar/59620 ^@ GRCh38/hg38 7q21.11(chr7:77983002-78329649)x3 http://identifiers.org/clinvar/59621 ^@ GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3 http://identifiers.org/clinvar/59622 ^@ GRCh38/hg38 7q21.12-21.13(chr7:88131360-88520102)x3 http://identifiers.org/clinvar/59623 ^@ GRCh38/hg38 7q21.13(chr7:88520043-90241919)x3 http://identifiers.org/clinvar/59624 ^@ GRCh38/hg38 7q21.13(chr7:88521030-90256023)x3 http://identifiers.org/clinvar/59625 ^@ GRCh38/hg38 6q12(chr6:64445915-65592915)x1 http://identifiers.org/clinvar/59626 ^@ GRCh38/hg38 6q12(chr6:64549655-65570492)x1 http://identifiers.org/clinvar/59627 ^@ GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1 http://identifiers.org/clinvar/59628 ^@ GRCh38/hg38 5q14.3(chr5:86343721-88779835)x1 http://identifiers.org/clinvar/59629 ^@ GRCh38/hg38 9p24.3(chr9:204193-229257)x1 http://identifiers.org/clinvar/59630 ^@ GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1 http://identifiers.org/clinvar/59631 ^@ GRCh38/hg38 5q14.3(chr5:88720397-89487275)x1 http://identifiers.org/clinvar/59632 ^@ GRCh38/hg38 5q14.3(chr5:88854849-89268660)x1 http://identifiers.org/clinvar/59633 ^@ GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1 http://identifiers.org/clinvar/59639 ^@ GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1 http://identifiers.org/clinvar/59641 ^@ GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1 http://identifiers.org/clinvar/59642 ^@ GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3 http://identifiers.org/clinvar/59643 ^@ GRCh38/hg38 16p11.2(chr16:28710478-29025786)x1 http://identifiers.org/clinvar/59644 ^@ GRCh38/hg38 16p11.2(chr16:28826129-29030797)x1 http://identifiers.org/clinvar/59645 ^@ GRCh38/hg38 7q21.13(chr7:88685297-90170773)x3 http://identifiers.org/clinvar/59646 ^@ GRCh38/hg38 7q21.13(chr7:90320748-91163091)x3 http://identifiers.org/clinvar/59647 ^@ GRCh38/hg38 7q21.3(chr7:94373041-94510143)x3 http://identifiers.org/clinvar/59648 ^@ GRCh38/hg38 7q21.3(chr7:96591925-96746514)x3 http://identifiers.org/clinvar/59649 ^@ GRCh38/hg38 7q22.1(chr7:98602781-98731749)x3 http://identifiers.org/clinvar/59650 ^@ GRCh38/hg38 7q31.1(chr7:109265311-109384789)x3 http://identifiers.org/clinvar/59651 ^@ GRCh38/hg38 7q31.1(chr7:109678976-110483783)x3 http://identifiers.org/clinvar/59652 ^@ GRCh38/hg38 7q31.32(chr7:122563002-123338792)x3 http://identifiers.org/clinvar/59653 ^@ GRCh38/hg38 7q31.32(chr7:122609585-123346205)x3 http://identifiers.org/clinvar/59654 ^@ GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 http://identifiers.org/clinvar/59655 ^@ GRCh38/hg38 7q31.32(chr7:122651517-123044665)x3 http://identifiers.org/clinvar/59656 ^@ GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 http://identifiers.org/clinvar/59657 ^@ GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 http://identifiers.org/clinvar/59658 ^@ GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 http://identifiers.org/clinvar/59659 ^@ GRCh38/hg38 Xq28(chrX:155980375-156022206)x1 http://identifiers.org/clinvar/59660 ^@ GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3 http://identifiers.org/clinvar/59661 ^@ GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 http://identifiers.org/clinvar/59662 ^@ GRCh38/hg38 Xq28(chrX:155998122-156013167)x1 http://identifiers.org/clinvar/59663 ^@ GRCh38/hg38 10p13(chr10:14844417-15150430)x3 http://identifiers.org/clinvar/59664 ^@ GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 http://identifiers.org/clinvar/59665 ^@ GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 http://identifiers.org/clinvar/59666 ^@ GRCh38/hg38 10p12.1(chr10:25484473-26963308)x3 http://identifiers.org/clinvar/59667 ^@ GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 http://identifiers.org/clinvar/59668 ^@ GRCh38/hg38 10q21.1(chr10:51986860-52975790)x3 http://identifiers.org/clinvar/59669 ^@ GRCh38/hg38 5q15(chr5:93078983-95529159)x1 http://identifiers.org/clinvar/59670 ^@ GRCh38/hg38 5q15(chr5:93598243-94237822)x1 http://identifiers.org/clinvar/59671 ^@ GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1 http://identifiers.org/clinvar/59672 ^@ GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 http://identifiers.org/clinvar/59673 ^@ GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 http://identifiers.org/clinvar/59674 ^@ GRCh38/hg38 5q23.1(chr5:119982206-120766818)x1 http://identifiers.org/clinvar/59675 ^@ GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 http://identifiers.org/clinvar/59676 ^@ GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 http://identifiers.org/clinvar/59677 ^@ GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 http://identifiers.org/clinvar/59678 ^@ GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 http://identifiers.org/clinvar/59679 ^@ GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 http://identifiers.org/clinvar/59680 ^@ GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 http://identifiers.org/clinvar/59681 ^@ GRCh38/hg38 7p14.1-13(chr7:42388724-43606751)x3 http://identifiers.org/clinvar/59682 ^@ GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 http://identifiers.org/clinvar/59683 ^@ GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3 http://identifiers.org/clinvar/59684 ^@ GRCh38/hg38 16p11.2(chr16:28843308-29025786)x1 http://identifiers.org/clinvar/59685 ^@ GRCh38/hg38 3q29(chr3:195711798-197976152)x3 http://identifiers.org/clinvar/59686 ^@ GRCh38/hg38 3q29(chr3:195896948-198110178)x3 http://identifiers.org/clinvar/59687 ^@ GRCh38/hg38 3q29(chr3:195917073-196336765)x3 http://identifiers.org/clinvar/59688 ^@ GRCh38/hg38 3q29(chr3:196035777-196189197)x3 http://identifiers.org/clinvar/59689 ^@ GRCh38/hg38 3q29(chr3:197511726-197833102)x3 http://identifiers.org/clinvar/59690 ^@ GRCh38/hg38 1q21.1(chr1:145833599-146009630)x3 http://identifiers.org/clinvar/59691 ^@ GRCh38/hg38 1q21.1(chr1:145635445-145968427)x3 http://identifiers.org/clinvar/59692 ^@ GRCh38/hg38 7q31.32(chr7:122720725-123294193)x3 http://identifiers.org/clinvar/59693 ^@ GRCh38/hg38 7q32.3-33(chr7:132807984-133756055)x3 http://identifiers.org/clinvar/59694 ^@ GRCh38/hg38 7q34(chr7:138795539-140364913)x3 http://identifiers.org/clinvar/59695 ^@ GRCh38/hg38 7q36.1-36.2(chr7:152674212-153187462)x3 http://identifiers.org/clinvar/59696 ^@ GRCh38/hg38 7q36.2(chr7:152807005-153753205)x3 http://identifiers.org/clinvar/59697 ^@ GRCh38/hg38 7q36.2(chr7:152860576-154126004)x3 http://identifiers.org/clinvar/59698 ^@ GRCh38/hg38 7q36.2(chr7:153540071-154485255)x3 http://identifiers.org/clinvar/59699 ^@ GRCh38/hg38 7q36.2(chr7:153590855-154126004)x3 http://identifiers.org/clinvar/59700 ^@ GRCh38/hg38 10p12.1-11.23(chr10:27767970-30046085)x3 http://identifiers.org/clinvar/59701 ^@ GRCh38/hg38 10p11.21(chr10:34686264-35684215)x3 http://identifiers.org/clinvar/59702 ^@ GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3 http://identifiers.org/clinvar/59703 ^@ GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 http://identifiers.org/clinvar/59704 ^@ GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 http://identifiers.org/clinvar/59705 ^@ GRCh38/hg38 10q24.1(chr10:96601018-97382040)x3 http://identifiers.org/clinvar/59706 ^@ GRCh38/hg38 12p11.22(chr12:28856455-29343246)x3 http://identifiers.org/clinvar/59707 ^@ GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 http://identifiers.org/clinvar/59708 ^@ GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3 http://identifiers.org/clinvar/59709 ^@ GRCh38/hg38 10q24.32(chr10:101253669-101395093)x3 http://identifiers.org/clinvar/59710 ^@ GRCh38/hg38 15q13.3(chr15:31729530-32149250)x3 http://identifiers.org/clinvar/59711 ^@ GRCh38/hg38 15q13.3(chr15:31729530-32222779)x3 http://identifiers.org/clinvar/59712 ^@ GRCh38/hg38 7q11.23(chr7:74035454-74133404)x3 http://identifiers.org/clinvar/59713 ^@ GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 http://identifiers.org/clinvar/59714 ^@ GRCh38/hg38 7q31.1-31.2(chr7:113569777-115093349)x3 http://identifiers.org/clinvar/59715 ^@ GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3 http://identifiers.org/clinvar/59716 ^@ GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 http://identifiers.org/clinvar/59717 ^@ GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 http://identifiers.org/clinvar/59718 ^@ GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3 http://identifiers.org/clinvar/59719 ^@ GRCh38/hg38 1q21.1(chr1:145335791-146146477)x3 http://identifiers.org/clinvar/59720 ^@ GRCh38/hg38 1q21.1(chr1:145335791-146127929)x3 http://identifiers.org/clinvar/59722 ^@ GRCh38/hg38 1q21.1(chr1:145601946-145807381)x3 http://identifiers.org/clinvar/59723 ^@ GRCh38/hg38 1q21.1(chr1:145694408-145802744)x3 http://identifiers.org/clinvar/59724 ^@ GRCh38/hg38 1q21.1(chr1:145694408-145802744)x1 http://identifiers.org/clinvar/59725 ^@ GRCh38/hg38 10q24.32(chr10:101297763-101618190)x3 http://identifiers.org/clinvar/59726 ^@ GRCh38/hg38 10q24.32(chr10:101491828-101668176)x3 http://identifiers.org/clinvar/59727 ^@ GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 http://identifiers.org/clinvar/59728 ^@ GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 http://identifiers.org/clinvar/59729 ^@ GRCh38/hg38 10q26.13(chr10:121507745-121870082)x3 http://identifiers.org/clinvar/59730 ^@ GRCh38/hg38 16p13.3(chr16:129081-168972)x3 http://identifiers.org/clinvar/59731 ^@ GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 http://identifiers.org/clinvar/59732 ^@ GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3 http://identifiers.org/clinvar/59733 ^@ GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3 http://identifiers.org/clinvar/59734 ^@ GRCh38/hg38 18p11.31-11.23(chr18:6881457-8124873)x3 http://identifiers.org/clinvar/59735 ^@ GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 http://identifiers.org/clinvar/59736 ^@ GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 http://identifiers.org/clinvar/59737 ^@ GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 http://identifiers.org/clinvar/59738 ^@ GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 http://identifiers.org/clinvar/59739 ^@ GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 http://identifiers.org/clinvar/59740 ^@ GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 http://identifiers.org/clinvar/59741 ^@ GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4 http://identifiers.org/clinvar/59742 ^@ GRCh38/hg38 2q13(chr2:109936618-110452159)x1 http://identifiers.org/clinvar/59743 ^@ GRCh38/hg38 2q13(chr2:110084138-110212693)x1 http://identifiers.org/clinvar/59744 ^@ GRCh38/hg38 2q13(chr2:110084138-110611314)x1 http://identifiers.org/clinvar/59745 ^@ GRCh38/hg38 2q13(chr2:110084194-110212693)x1 http://identifiers.org/clinvar/59746 ^@ GRCh38/hg38 2q13(chr2:110095383-110211318)x1 http://identifiers.org/clinvar/59747 ^@ GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 http://identifiers.org/clinvar/59748 ^@ GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 http://identifiers.org/clinvar/59749 ^@ GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3 http://identifiers.org/clinvar/59750 ^@ GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 http://identifiers.org/clinvar/59751 ^@ GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3 http://identifiers.org/clinvar/59752 ^@ GRCh38/hg38 11p11.2(chr11:44197767-44660566)x3 http://identifiers.org/clinvar/59753 ^@ GRCh38/hg38 18p11.31-11.23(chr18:7115076-7608220)x3 http://identifiers.org/clinvar/59754 ^@ GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 http://identifiers.org/clinvar/59755 ^@ GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 http://identifiers.org/clinvar/59756 ^@ GRCh38/hg38 2p12(chr2:81042440-82182247)x3 http://identifiers.org/clinvar/59757 ^@ GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 http://identifiers.org/clinvar/59758 ^@ GRCh38/hg38 11q13.2(chr11:67016543-67256428)x3 http://identifiers.org/clinvar/59759 ^@ GRCh38/hg38 21q21.3(chr21:28064166-28380676)x3 http://identifiers.org/clinvar/59760 ^@ GRCh38/hg38 21q22.11(chr21:32338306-32536076)x3 http://identifiers.org/clinvar/59761 ^@ GRCh38/hg38 21q22.3(chr21:46598937-46670405)x3 http://identifiers.org/clinvar/59762 ^@ GRCh38/hg38 22q13.1(chr22:38951259-39371142)x3 http://identifiers.org/clinvar/59763 ^@ GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 http://identifiers.org/clinvar/59764 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 http://identifiers.org/clinvar/59765 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 http://identifiers.org/clinvar/59766 ^@ GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 http://identifiers.org/clinvar/59767 ^@ GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 http://identifiers.org/clinvar/59768 ^@ GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 http://identifiers.org/clinvar/59769 ^@ GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 http://identifiers.org/clinvar/59770 ^@ GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 http://identifiers.org/clinvar/59771 ^@ GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3 http://identifiers.org/clinvar/59772 ^@ GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 http://identifiers.org/clinvar/59773 ^@ GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3 http://identifiers.org/clinvar/59774 ^@ GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 http://identifiers.org/clinvar/59775 ^@ GRCh38/hg38 3q22.1(chr3:131273462-131383846)x3 http://identifiers.org/clinvar/59776 ^@ GRCh38/hg38 4q32.3(chr4:163823391-164572460)x3 http://identifiers.org/clinvar/59777 ^@ GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 http://identifiers.org/clinvar/59778 ^@ GRCh38/hg38 4q35.1(chr4:182915444-183265722)x3 http://identifiers.org/clinvar/59779 ^@ GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 http://identifiers.org/clinvar/59780 ^@ GRCh38/hg38 4q35.2(chr4:188115081-188624331)x3 http://identifiers.org/clinvar/59781 ^@ GRCh38/hg38 5q22.3(chr5:114504911-115696544)x3 http://identifiers.org/clinvar/59782 ^@ GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3 http://identifiers.org/clinvar/59783 ^@ GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 http://identifiers.org/clinvar/59784 ^@ GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 http://identifiers.org/clinvar/59785 ^@ GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 http://identifiers.org/clinvar/59786 ^@ GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 http://identifiers.org/clinvar/59787 ^@ GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 http://identifiers.org/clinvar/59788 ^@ GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 http://identifiers.org/clinvar/59789 ^@ GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3 http://identifiers.org/clinvar/59790 ^@ GRCh38/hg38 2p11.2(chr2:86797744-87705899)x3 http://identifiers.org/clinvar/59791 ^@ GRCh38/hg38 7p11.2-q11.21(chr7:57021637-62294432)x3 http://identifiers.org/clinvar/59792 ^@ GRCh38/hg38 1p34.3(chr1:37443860-37704418)x1 http://identifiers.org/clinvar/59793 ^@ GRCh38/hg38 11q25(chr11:131311972-134998654)x3 http://identifiers.org/clinvar/59794 ^@ GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 http://identifiers.org/clinvar/59795 ^@ GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 http://identifiers.org/clinvar/59796 ^@ GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 http://identifiers.org/clinvar/59797 ^@ GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 http://identifiers.org/clinvar/59798 ^@ GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3 http://identifiers.org/clinvar/59799 ^@ GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 http://identifiers.org/clinvar/59800 ^@ GRCh38/hg38 6q15(chr6:92014053-92467124)x3 http://identifiers.org/clinvar/59801 ^@ GRCh38/hg38 6q25.1(chr6:151369093-151518210)x3 http://identifiers.org/clinvar/59802 ^@ GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3 http://identifiers.org/clinvar/59803 ^@ GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 http://identifiers.org/clinvar/59804 ^@ GRCh38/hg38 6q27(chr6:167963663-168157303)x3 http://identifiers.org/clinvar/59805 ^@ GRCh38/hg38 12p11.21(chr12:32731855-32881857)x3 http://identifiers.org/clinvar/59806 ^@ GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3 http://identifiers.org/clinvar/59807 ^@ GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3 http://identifiers.org/clinvar/59808 ^@ GRCh38/hg38 8q22.1(chr8:94283890-94959597)x3 http://identifiers.org/clinvar/59809 ^@ GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 http://identifiers.org/clinvar/59810 ^@ GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 http://identifiers.org/clinvar/59811 ^@ GRCh38/hg38 1q24.3(chr1:171953097-172164645)x1 http://identifiers.org/clinvar/59812 ^@ GRCh38/hg38 10q26.3(chr10:133398406-133421339)x1 http://identifiers.org/clinvar/59813 ^@ GRCh38/hg38 13q21.1(chr13:56274984-57219279)x1 http://identifiers.org/clinvar/59814 ^@ GRCh38/hg38 14q11.2(chr14:22021664-22592708)x1 http://identifiers.org/clinvar/59815 ^@ GRCh38/hg38 12q14.1(chr12:60907169-62595121)x3 http://identifiers.org/clinvar/59816 ^@ GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3 http://identifiers.org/clinvar/59817 ^@ GRCh38/hg38 12q23.1(chr12:100078579-100273980)x3 http://identifiers.org/clinvar/59818 ^@ GRCh38/hg38 12q24.13(chr12:112303430-112676526)x3 http://identifiers.org/clinvar/59819 ^@ GRCh38/hg38 12q24.13(chr12:112307532-112722967)x3 http://identifiers.org/clinvar/59820 ^@ GRCh38/hg38 Xp22.31(chrX:6534166-8168680)x2 http://identifiers.org/clinvar/59821 ^@ GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 http://identifiers.org/clinvar/59822 ^@ GRCh38/hg38 Xp22.31(chrX:6534166-8148026)x3 http://identifiers.org/clinvar/59823 ^@ GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 http://identifiers.org/clinvar/59824 ^@ GRCh38/hg38 Xp22.31(chrX:6539362-8064079)x2 http://identifiers.org/clinvar/59825 ^@ GRCh38/hg38 12q24.31-24.33(chr12:123365769-133191400)x3 http://identifiers.org/clinvar/59826 ^@ GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x3 http://identifiers.org/clinvar/59827 ^@ GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x1 http://identifiers.org/clinvar/59828 ^@ GRCh38/hg38 Xp22.31(chrX:6633114-7637310)x3 http://identifiers.org/clinvar/59829 ^@ GRCh38/hg38 Xp21.2(chrX:30783431-30834542)x2 http://identifiers.org/clinvar/59830 ^@ GRCh38/hg38 Xq13.3(chrX:75243091-75431414)x3 http://identifiers.org/clinvar/59831 ^@ GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 http://identifiers.org/clinvar/59832 ^@ GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 http://identifiers.org/clinvar/59833 ^@ GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 http://identifiers.org/clinvar/59834 ^@ GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 http://identifiers.org/clinvar/59835 ^@ GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 http://identifiers.org/clinvar/59836 ^@ GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 http://identifiers.org/clinvar/59837 ^@ GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3 http://identifiers.org/clinvar/59838 ^@ GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 http://identifiers.org/clinvar/59839 ^@ GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 http://identifiers.org/clinvar/59840 ^@ GRCh38/hg38 14q32.33(chr14:106501955-106850609)x1 http://identifiers.org/clinvar/59841 ^@ GRCh38/hg38 14q32.33(chr14:106714051-106855263)x1 http://identifiers.org/clinvar/59842 ^@ GRCh38/hg38 15q11.2(chr15:24847126-24862220)x3 http://identifiers.org/clinvar/59843 ^@ GRCh38/hg38 15q11.2(chr15:24847126-24862220)x1 http://identifiers.org/clinvar/59844 ^@ GRCh38/hg38 17q12(chr17:35360337-35411448)x1 http://identifiers.org/clinvar/59845 ^@ GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 http://identifiers.org/clinvar/59846 ^@ GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 http://identifiers.org/clinvar/59847 ^@ GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3 http://identifiers.org/clinvar/59848 ^@ GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 http://identifiers.org/clinvar/59849 ^@ GRCh38/hg38 12q24.33(chr12:131049491-133191400)x3 http://identifiers.org/clinvar/59850 ^@ GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1 http://identifiers.org/clinvar/59851 ^@ GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 http://identifiers.org/clinvar/59852 ^@ GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1 http://identifiers.org/clinvar/59853 ^@ GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 http://identifiers.org/clinvar/59854 ^@ GRCh38/hg38 1p36.32-36.31(chr1:4203439-5363885)x1 http://identifiers.org/clinvar/59855 ^@ GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 http://identifiers.org/clinvar/59856 ^@ GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 http://identifiers.org/clinvar/59857 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1 http://identifiers.org/clinvar/59858 ^@ GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 http://identifiers.org/clinvar/59859 ^@ GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 http://identifiers.org/clinvar/59860 ^@ GRCh38/hg38 1q21.1-21.2(chr1:145335791-146944906)x1 http://identifiers.org/clinvar/59861 ^@ GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 http://identifiers.org/clinvar/59862 ^@ GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 http://identifiers.org/clinvar/59863 ^@ GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 http://identifiers.org/clinvar/59864 ^@ GRCh38/hg38 1q21.1(chr1:145335791-146133507)x1 http://identifiers.org/clinvar/59865 ^@ GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3 http://identifiers.org/clinvar/59866 ^@ GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 http://identifiers.org/clinvar/59867 ^@ GRCh38/hg38 1q21.1(chr1:145688094-146046645)x1 http://identifiers.org/clinvar/59868 ^@ GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 http://identifiers.org/clinvar/59869 ^@ GRCh38/hg38 1q21.1(chr1:145601946-146046645)x1 http://identifiers.org/clinvar/59870 ^@ GRCh38/hg38 1q21.1(chr1:145609216-146046645)x1 http://identifiers.org/clinvar/59871 ^@ GRCh38/hg38 1q21.1(chr1:145635445-146046645)x1 http://identifiers.org/clinvar/59872 ^@ GRCh38/hg38 1q21.1(chr1:145625047-146021303)x1 http://identifiers.org/clinvar/59873 ^@ GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 http://identifiers.org/clinvar/59874 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 http://identifiers.org/clinvar/59875 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 http://identifiers.org/clinvar/59876 ^@ GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 http://identifiers.org/clinvar/59877 ^@ GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 http://identifiers.org/clinvar/59878 ^@ GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 http://identifiers.org/clinvar/59879 ^@ GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 http://identifiers.org/clinvar/59880 ^@ GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 http://identifiers.org/clinvar/59881 ^@ GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 http://identifiers.org/clinvar/59882 ^@ GRCh38/hg38 2p13.3(chr2:70893683-71059886)x1 http://identifiers.org/clinvar/59883 ^@ GRCh38/hg38 2q32.1(chr2:184482607-185243974)x1 http://identifiers.org/clinvar/59884 ^@ GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 http://identifiers.org/clinvar/59885 ^@ GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 http://identifiers.org/clinvar/59886 ^@ GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 http://identifiers.org/clinvar/59887 ^@ GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1 http://identifiers.org/clinvar/59888 ^@ GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 http://identifiers.org/clinvar/59889 ^@ GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 http://identifiers.org/clinvar/59890 ^@ GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3 http://identifiers.org/clinvar/59891 ^@ GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 http://identifiers.org/clinvar/59892 ^@ GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 http://identifiers.org/clinvar/59893 ^@ GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 http://identifiers.org/clinvar/59894 ^@ GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 http://identifiers.org/clinvar/59895 ^@ GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 http://identifiers.org/clinvar/59896 ^@ GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 http://identifiers.org/clinvar/59897 ^@ GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3 http://identifiers.org/clinvar/59898 ^@ GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1 http://identifiers.org/clinvar/59899 ^@ GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 http://identifiers.org/clinvar/59900 ^@ GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1 http://identifiers.org/clinvar/59901 ^@ GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 http://identifiers.org/clinvar/59902 ^@ GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3 http://identifiers.org/clinvar/59903 ^@ GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 http://identifiers.org/clinvar/59904 ^@ GRCh38/hg38 9q22.32-22.33(chr9:96094968-96620662)x3 http://identifiers.org/clinvar/59905 ^@ GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 http://identifiers.org/clinvar/59906 ^@ GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 http://identifiers.org/clinvar/59907 ^@ GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3 http://identifiers.org/clinvar/59908 ^@ GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 http://identifiers.org/clinvar/59909 ^@ GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3 http://identifiers.org/clinvar/59910 ^@ GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 http://identifiers.org/clinvar/59911 ^@ GRCh38/hg38 18p11.32(chr18:148763-1108996)x1 http://identifiers.org/clinvar/59912 ^@ GRCh38/hg38 18p11.32-11.31(chr18:148763-3345033)x1 http://identifiers.org/clinvar/59913 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 http://identifiers.org/clinvar/59914 ^@ GRCh38/hg38 18p11.32-11.31(chr18:148963-6731495)x1 http://identifiers.org/clinvar/59915 ^@ GRCh38/hg38 18p11.32-11.22(chr18:148963-8572827)x1 http://identifiers.org/clinvar/59916 ^@ GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 http://identifiers.org/clinvar/59917 ^@ GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1 http://identifiers.org/clinvar/59918 ^@ GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 http://identifiers.org/clinvar/59919 ^@ GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 http://identifiers.org/clinvar/59920 ^@ GRCh38/hg38 1p36.13(chr1:18989947-19499528)x1 http://identifiers.org/clinvar/59921 ^@ GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 http://identifiers.org/clinvar/59922 ^@ GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1 http://identifiers.org/clinvar/59923 ^@ GRCh38/hg38 1p36.12(chr1:20374020-20736151)x1 http://identifiers.org/clinvar/59924 ^@ GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 http://identifiers.org/clinvar/59925 ^@ GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1 http://identifiers.org/clinvar/59926 ^@ GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 http://identifiers.org/clinvar/59927 ^@ GRCh38/hg38 13q34(chr13:111439396-114327173)x3 http://identifiers.org/clinvar/59928 ^@ GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1 http://identifiers.org/clinvar/59929 ^@ GRCh38/hg38 13q34(chr13:112292922-113636272)x3 http://identifiers.org/clinvar/59930 ^@ GRCh38/hg38 1p35.3(chr1:27601122-27889441)x1 http://identifiers.org/clinvar/59931 ^@ GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1 http://identifiers.org/clinvar/59932 ^@ GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 http://identifiers.org/clinvar/59933 ^@ GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 http://identifiers.org/clinvar/59934 ^@ GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 http://identifiers.org/clinvar/59935 ^@ GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 http://identifiers.org/clinvar/59936 ^@ GRCh38/hg38 2q12.1-12.2(chr2:104700043-105547876)x1 http://identifiers.org/clinvar/59937 ^@ GRCh38/hg38 2q14.1(chr2:112924872-113105404)x1 http://identifiers.org/clinvar/59938 ^@ GRCh38/hg38 2q22.3-23.1(chr2:147251948-148349192)x1 http://identifiers.org/clinvar/59939 ^@ GRCh38/hg38 2q23.3(chr2:150307696-150845346)x1 http://identifiers.org/clinvar/59940 ^@ GRCh38/hg38 2q24.3(chr2:166136991-166692021)x1 http://identifiers.org/clinvar/59941 ^@ GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 http://identifiers.org/clinvar/59942 ^@ GRCh38/hg38 2q37.1(chr2:233687049-234225737)x1 http://identifiers.org/clinvar/59943 ^@ GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 http://identifiers.org/clinvar/59944 ^@ GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3 http://identifiers.org/clinvar/59945 ^@ GRCh38/hg38 2q37.3(chr2:240403667-240910830)x1 http://identifiers.org/clinvar/59946 ^@ GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 http://identifiers.org/clinvar/59948 ^@ GRCh38/hg38 Xp22.33(chrX:10679-1633117)x3 http://identifiers.org/clinvar/59949 ^@ GRCh38/hg38 16p13.3(chr16:2786223-2913719)x3 http://identifiers.org/clinvar/59950 ^@ GRCh38/hg38 16p13.3(chr16:7503171-7752948)x3 http://identifiers.org/clinvar/59951 ^@ GRCh38/hg38 16p13.3(chr16:7689761-7761625)x3 http://identifiers.org/clinvar/59952 ^@ GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3 http://identifiers.org/clinvar/59953 ^@ GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3 http://identifiers.org/clinvar/59954 ^@ GRCh38/hg38 16p13.2(chr16:8831989-9153027)x3 http://identifiers.org/clinvar/59955 ^@ GRCh38/hg38 16p13.13-13.12(chr16:11923897-12964059)x3 http://identifiers.org/clinvar/59956 ^@ GRCh38/hg38 16p12.3(chr16:18658344-19259042)x3 http://identifiers.org/clinvar/59957 ^@ GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1 http://identifiers.org/clinvar/59958 ^@ GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1 http://identifiers.org/clinvar/59959 ^@ GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1 http://identifiers.org/clinvar/59960 ^@ GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1 http://identifiers.org/clinvar/59961 ^@ GRCh38/hg38 18q12.3-21.1(chr18:40718750-47042515)x1 http://identifiers.org/clinvar/59962 ^@ GRCh38/hg38 18q12.3-21.1(chr18:40718750-48354407)x1 http://identifiers.org/clinvar/59963 ^@ GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 http://identifiers.org/clinvar/59964 ^@ GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1 http://identifiers.org/clinvar/59965 ^@ GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 http://identifiers.org/clinvar/59966 ^@ GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 http://identifiers.org/clinvar/59967 ^@ GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1 http://identifiers.org/clinvar/59968 ^@ GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 http://identifiers.org/clinvar/59969 ^@ GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1 http://identifiers.org/clinvar/59970 ^@ GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 http://identifiers.org/clinvar/59971 ^@ GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 http://identifiers.org/clinvar/59972 ^@ GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1 http://identifiers.org/clinvar/59973 ^@ GRCh38/hg38 1p21.3(chr1:96554406-97919058)x1 http://identifiers.org/clinvar/59974 ^@ GRCh38/hg38 2p16.2(chr2:54226073-54403618)x1 http://identifiers.org/clinvar/59975 ^@ GRCh38/hg38 20p12.1(chr20:14117134-14307669)x1 http://identifiers.org/clinvar/59976 ^@ GRCh38/hg38 20p11.23(chr20:18430311-18542627)x1 http://identifiers.org/clinvar/59977 ^@ GRCh38/hg38 20q12(chr20:41822419-42468515)x1 http://identifiers.org/clinvar/59978 ^@ GRCh38/hg38 20q12(chr20:42560011-42713556)x1 http://identifiers.org/clinvar/59979 ^@ GRCh38/hg38 20q13.31(chr20:57137573-57378043)x1 http://identifiers.org/clinvar/59980 ^@ GRCh38/hg38 21q22.11(chr21:31152676-31547770)x1 http://identifiers.org/clinvar/59987 ^@ GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3 http://identifiers.org/clinvar/59989 ^@ GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3 http://identifiers.org/clinvar/59990 ^@ GRCh38/hg38 16p12.1-11.2(chr16:28061312-28584375)x3 http://identifiers.org/clinvar/59991 ^@ GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3 http://identifiers.org/clinvar/59992 ^@ GRCh38/hg38 16q21(chr16:58082578-58578082)x3 http://identifiers.org/clinvar/59993 ^@ GRCh38/hg38 16q22.1(chr16:66963495-67004242)x3 http://identifiers.org/clinvar/59994 ^@ GRCh38/hg38 16q22.1(chr16:68611956-68888428)x3 http://identifiers.org/clinvar/59995 ^@ GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3 http://identifiers.org/clinvar/59996 ^@ GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3 http://identifiers.org/clinvar/59997 ^@ GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 http://identifiers.org/clinvar/59998 ^@ GRCh38/hg38 18q21.2-21.31(chr18:54417453-57347792)x1 http://identifiers.org/clinvar/59999 ^@ GRCh38/hg38 18q21.2(chr18:55339930-55500526)x1 http://identifiers.org/clinvar/60000 ^@ GRCh38/hg38 18q21.2-21.31(chr18:55575588-57207463)x1 http://identifiers.org/clinvar/60001 ^@ GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 http://identifiers.org/clinvar/60002 ^@ GRCh38/hg38 18q21.32-21.33(chr18:61092555-63621755)x1 http://identifiers.org/clinvar/60003 ^@ GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 http://identifiers.org/clinvar/60004 ^@ GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 http://identifiers.org/clinvar/60005 ^@ GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 http://identifiers.org/clinvar/60006 ^@ GRCh38/hg38 1p21.3-13.3(chr1:98557000-107949047)x1 http://identifiers.org/clinvar/60007 ^@ GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 http://identifiers.org/clinvar/60008 ^@ GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1 http://identifiers.org/clinvar/60009 ^@ GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 http://identifiers.org/clinvar/60010 ^@ GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1 http://identifiers.org/clinvar/60011 ^@ GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1 http://identifiers.org/clinvar/60012 ^@ GRCh38/hg38 1q21.3(chr1:153939571-153978276)x1 http://identifiers.org/clinvar/60013 ^@ GRCh38/hg38 22q13.1(chr22:38696778-38898386)x1 http://identifiers.org/clinvar/60014 ^@ GRCh38/hg38 3p26.3(chr3:20521-1209209)x1 http://identifiers.org/clinvar/60015 ^@ GRCh38/hg38 3p26.3(chr3:171028-1018461)x1 http://identifiers.org/clinvar/60016 ^@ GRCh38/hg38 3p26.3(chr3:244617-1209150)x1 http://identifiers.org/clinvar/60017 ^@ GRCh38/hg38 3p26.3(chr3:296016-1562138)x1 http://identifiers.org/clinvar/60018 ^@ GRCh38/hg38 3p26.3(chr3:868134-1342135)x3 http://identifiers.org/clinvar/60019 ^@ GRCh38/hg38 3p26.3(chr3:868134-1342135)x1 http://identifiers.org/clinvar/60020 ^@ GRCh38/hg38 3p26.3(chr3:996747-2418562)x1 http://identifiers.org/clinvar/60021 ^@ GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3 http://identifiers.org/clinvar/60022 ^@ GRCh38/hg38 16q23.1(chr16:75485676-75603079)x3 http://identifiers.org/clinvar/60023 ^@ GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3 http://identifiers.org/clinvar/60024 ^@ GRCh38/hg38 16q23.1(chr16:76877375-77933220)x3 http://identifiers.org/clinvar/60025 ^@ GRCh38/hg38 16q23.1(chr16:77515483-78109855)x3 http://identifiers.org/clinvar/60026 ^@ GRCh38/hg38 16q23.1(chr16:77919420-78781576)x3 http://identifiers.org/clinvar/60027 ^@ GRCh38/hg38 16q23.1(chr16:77960806-78620032)x3 http://identifiers.org/clinvar/60028 ^@ GRCh38/hg38 16q23.1(chr16:78064581-78624387)x3 http://identifiers.org/clinvar/60029 ^@ GRCh38/hg38 16q23.1(chr16:78455117-79029935)x3 http://identifiers.org/clinvar/60030 ^@ GRCh38/hg38 16q23.2-23.3(chr16:80946459-81666544)x3 http://identifiers.org/clinvar/60031 ^@ GRCh38/hg38 18q22.1-23(chr18:67078720-77675655)x1 http://identifiers.org/clinvar/60032 ^@ GRCh38/hg38 18q22.1-22.2(chr18:69030251-69682957)x1 http://identifiers.org/clinvar/60033 ^@ GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 http://identifiers.org/clinvar/60034 ^@ GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1 http://identifiers.org/clinvar/60035 ^@ GRCh38/hg38 18q23(chr18:75843868-80209986)x1 http://identifiers.org/clinvar/60036 ^@ GRCh38/hg38 18q23(chr18:78869005-80252149)x1 http://identifiers.org/clinvar/60037 ^@ GRCh38/hg38 18q23(chr18:78892487-80209986)x1 http://identifiers.org/clinvar/60038 ^@ GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 http://identifiers.org/clinvar/60039 ^@ GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 http://identifiers.org/clinvar/60040 ^@ GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1 http://identifiers.org/clinvar/60041 ^@ GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 http://identifiers.org/clinvar/60042 ^@ GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 http://identifiers.org/clinvar/60043 ^@ GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 http://identifiers.org/clinvar/60044 ^@ GRCh38/hg38 1q23.3-24.3(chr1:164036599-171252077)x1 http://identifiers.org/clinvar/60045 ^@ GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 http://identifiers.org/clinvar/60046 ^@ GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 http://identifiers.org/clinvar/60047 ^@ GRCh38/hg38 1q24.2(chr1:169623984-169744043)x1 http://identifiers.org/clinvar/60048 ^@ GRCh38/hg38 3p26.3(chr3:1260116-1561997)x1 http://identifiers.org/clinvar/60049 ^@ GRCh38/hg38 3p26.3-26.2(chr3:2301168-3219257)x1 http://identifiers.org/clinvar/60050 ^@ GRCh38/hg38 3p26.3(chr3:2349455-2431514)x1 http://identifiers.org/clinvar/60051 ^@ GRCh38/hg38 3p26.2(chr3:3195997-3503302)x1 http://identifiers.org/clinvar/60052 ^@ GRCh38/hg38 3p26.1(chr3:4746966-5426775)x1 http://identifiers.org/clinvar/60053 ^@ GRCh38/hg38 3p25.1(chr3:14053769-15011686)x1 http://identifiers.org/clinvar/60054 ^@ GRCh38/hg38 3p24.1(chr3:30623003-30666517)x1 http://identifiers.org/clinvar/60055 ^@ GRCh38/hg38 3p24.1(chr3:30628928-30656356)x1 http://identifiers.org/clinvar/60056 ^@ GRCh38/hg38 3p24.1(chr3:30638613-30656356)x1 http://identifiers.org/clinvar/60057 ^@ GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1 http://identifiers.org/clinvar/60058 ^@ GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3 http://identifiers.org/clinvar/60059 ^@ GRCh38/hg38 16q23.3(chr16:82000870-82705128)x3 http://identifiers.org/clinvar/60060 ^@ GRCh38/hg38 16q23.3(chr16:82040834-82893258)x3 http://identifiers.org/clinvar/60061 ^@ GRCh38/hg38 16q23.3(chr16:82163949-82280684)x3 http://identifiers.org/clinvar/60062 ^@ GRCh38/hg38 16q23.3(chr16:83308441-83921719)x3 http://identifiers.org/clinvar/60063 ^@ GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3 http://identifiers.org/clinvar/60064 ^@ GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3 http://identifiers.org/clinvar/60065 ^@ GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3 http://identifiers.org/clinvar/60066 ^@ GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 http://identifiers.org/clinvar/60067 ^@ GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1 http://identifiers.org/clinvar/60068 ^@ GRCh38/hg38 19p13.3(chr19:1191935-1253715)x1 http://identifiers.org/clinvar/60069 ^@ GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1 http://identifiers.org/clinvar/60070 ^@ GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 http://identifiers.org/clinvar/60071 ^@ GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 http://identifiers.org/clinvar/60072 ^@ GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 http://identifiers.org/clinvar/60073 ^@ GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 http://identifiers.org/clinvar/60074 ^@ GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1 http://identifiers.org/clinvar/60075 ^@ GRCh38/hg38 19p13.11(chr19:18424057-18685221)x1 http://identifiers.org/clinvar/60076 ^@ GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 http://identifiers.org/clinvar/60077 ^@ GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 http://identifiers.org/clinvar/60078 ^@ GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1 http://identifiers.org/clinvar/60079 ^@ GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1 http://identifiers.org/clinvar/60080 ^@ GRCh38/hg38 1q41(chr1:216396695-217549806)x1 http://identifiers.org/clinvar/60081 ^@ GRCh38/hg38 1q41(chr1:216518607-219827290)x1 http://identifiers.org/clinvar/60082 ^@ GRCh38/hg38 1q41(chr1:217452423-218818361)x1 http://identifiers.org/clinvar/60083 ^@ GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 http://identifiers.org/clinvar/60084 ^@ GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1 http://identifiers.org/clinvar/60085 ^@ GRCh38/hg38 3p14.2(chr3:61173973-61402744)x1 http://identifiers.org/clinvar/60086 ^@ GRCh38/hg38 3p12.3(chr3:76974990-77050465)x1 http://identifiers.org/clinvar/60087 ^@ GRCh38/hg38 3p12.2-11.1(chr3:83366150-88146360)x1 http://identifiers.org/clinvar/60088 ^@ GRCh38/hg38 3p12.1(chr3:85714723-86559429)x1 http://identifiers.org/clinvar/60089 ^@ GRCh38/hg38 3q12.3(chr3:102762944-102958793)x1 http://identifiers.org/clinvar/60090 ^@ GRCh38/hg38 3q13.31(chr3:114649022-116595962)x1 http://identifiers.org/clinvar/60091 ^@ GRCh38/hg38 3q22.1(chr3:132639520-132972626)x1 http://identifiers.org/clinvar/60092 ^@ GRCh38/hg38 3q24(chr3:144083575-144721804)x1 http://identifiers.org/clinvar/60093 ^@ GRCh38/hg38 17p13.3(chr17:198748-496099)x3 http://identifiers.org/clinvar/60094 ^@ GRCh38/hg38 17p13.3(chr17:234496-353077)x3 http://identifiers.org/clinvar/60095 ^@ GRCh38/hg38 17p13.3(chr17:258417-770280)x3 http://identifiers.org/clinvar/60096 ^@ GRCh38/hg38 17p13.3(chr17:279611-848014)x3 http://identifiers.org/clinvar/60097 ^@ GRCh38/hg38 17p13.3(chr17:2452259-2691244)x3 http://identifiers.org/clinvar/60098 ^@ GRCh38/hg38 17p13.3(chr17:2490435-2638867)x3 http://identifiers.org/clinvar/60099 ^@ GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 http://identifiers.org/clinvar/60100 ^@ GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3 http://identifiers.org/clinvar/60101 ^@ GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3 http://identifiers.org/clinvar/60102 ^@ GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1 http://identifiers.org/clinvar/60103 ^@ GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1 http://identifiers.org/clinvar/60104 ^@ GRCh38/hg38 2p25.3(chr2:50661-3293835)x1 http://identifiers.org/clinvar/60105 ^@ GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 http://identifiers.org/clinvar/60106 ^@ GRCh38/hg38 2p23.3(chr2:26332971-26439657)x1 http://identifiers.org/clinvar/60107 ^@ GRCh38/hg38 2p23.1-22.3(chr2:31368632-32087629)x1 http://identifiers.org/clinvar/60108 ^@ GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1 http://identifiers.org/clinvar/60109 ^@ GRCh38/hg38 2p16.3(chr2:50448670-50909614)x1 http://identifiers.org/clinvar/60110 ^@ GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1 http://identifiers.org/clinvar/60111 ^@ GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1 http://identifiers.org/clinvar/60112 ^@ GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 http://identifiers.org/clinvar/60113 ^@ GRCh38/hg38 1q42.2-43(chr1:233486559-239971543)x1 http://identifiers.org/clinvar/60114 ^@ GRCh38/hg38 1q42.3-43(chr1:235800332-236702192)x1 http://identifiers.org/clinvar/60115 ^@ GRCh38/hg38 1q42.3(chr1:236084158-236146773)x1 http://identifiers.org/clinvar/60116 ^@ GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 http://identifiers.org/clinvar/60117 ^@ GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 http://identifiers.org/clinvar/60118 ^@ GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 http://identifiers.org/clinvar/60119 ^@ GRCh38/hg38 1q43(chr1:238412092-241098768)x1 http://identifiers.org/clinvar/60120 ^@ GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 http://identifiers.org/clinvar/60121 ^@ GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1 http://identifiers.org/clinvar/60122 ^@ GRCh38/hg38 3q25.2(chr3:154843789-155242564)x1 http://identifiers.org/clinvar/60123 ^@ GRCh38/hg38 3q25.2-25.31(chr3:154870557-155444826)x1 http://identifiers.org/clinvar/60124 ^@ GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1 http://identifiers.org/clinvar/60125 ^@ GRCh38/hg38 3q25.33(chr3:160060060-160985414)x1 http://identifiers.org/clinvar/60126 ^@ GRCh38/hg38 3q26.1(chr3:166493319-166941997)x1 http://identifiers.org/clinvar/60127 ^@ GRCh38/hg38 3q26.31-26.32(chr3:174229765-176307536)x1 http://identifiers.org/clinvar/60128 ^@ GRCh38/hg38 3q26.31-26.32(chr3:175370765-176011624)x1 http://identifiers.org/clinvar/60129 ^@ GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1 http://identifiers.org/clinvar/60130 ^@ GRCh38/hg38 17p13.2(chr17:4141725-4841701)x3 http://identifiers.org/clinvar/60131 ^@ GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3 http://identifiers.org/clinvar/60132 ^@ GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3 http://identifiers.org/clinvar/60133 ^@ GRCh38/hg38 17p13.1(chr17:10112910-10477423)x3 http://identifiers.org/clinvar/60134 ^@ GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3 http://identifiers.org/clinvar/60135 ^@ GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3 http://identifiers.org/clinvar/60136 ^@ GRCh38/hg38 17p11.2(chr17:19239860-21530183)x3 http://identifiers.org/clinvar/60137 ^@ GRCh38/hg38 17q11.2(chr17:27627733-28118935)x3 http://identifiers.org/clinvar/60138 ^@ GRCh38/hg38 17q11.2(chr17:30893477-30993653)x3 http://identifiers.org/clinvar/60139 ^@ GRCh38/hg38 17q12(chr17:33642695-34549211)x3 http://identifiers.org/clinvar/60140 ^@ GRCh38/hg38 2p16.3(chr2:50488123-50945044)x1 http://identifiers.org/clinvar/60141 ^@ GRCh38/hg38 2p16.3(chr2:50548752-50755034)x1 http://identifiers.org/clinvar/60142 ^@ GRCh38/hg38 2p16.3(chr2:50710306-51087292)x1 http://identifiers.org/clinvar/60143 ^@ GRCh38/hg38 2p16.3(chr2:50737710-51173556)x1 http://identifiers.org/clinvar/60144 ^@ GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1 http://identifiers.org/clinvar/60145 ^@ GRCh38/hg38 2p16.3(chr2:50856272-51155734)x1 http://identifiers.org/clinvar/60146 ^@ GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1 http://identifiers.org/clinvar/60147 ^@ GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1 http://identifiers.org/clinvar/60148 ^@ GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1 http://identifiers.org/clinvar/60149 ^@ GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 http://identifiers.org/clinvar/60150 ^@ GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 http://identifiers.org/clinvar/60151 ^@ GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 http://identifiers.org/clinvar/60152 ^@ GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 http://identifiers.org/clinvar/60153 ^@ GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1 http://identifiers.org/clinvar/60154 ^@ GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 http://identifiers.org/clinvar/60155 ^@ GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 http://identifiers.org/clinvar/60156 ^@ GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1 http://identifiers.org/clinvar/60157 ^@ GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1 http://identifiers.org/clinvar/60158 ^@ GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1 http://identifiers.org/clinvar/60159 ^@ GRCh38/hg38 4p16.3(chr4:56878-475382)x1 http://identifiers.org/clinvar/60160 ^@ GRCh38/hg38 4p16.3(chr4:72555-761448)x1 http://identifiers.org/clinvar/60161 ^@ GRCh38/hg38 4p16.3(chr4:72555-620625)x1 http://identifiers.org/clinvar/60162 ^@ GRCh38/hg38 4p16.3(chr4:85149-634761)x1 http://identifiers.org/clinvar/60163 ^@ GRCh38/hg38 4p16.3(chr4:1979219-1995442)x1 http://identifiers.org/clinvar/60164 ^@ GRCh38/hg38 4p16.1(chr4:9946394-10449826)x1 http://identifiers.org/clinvar/60165 ^@ GRCh38/hg38 4p16.1-15.33(chr4:10746202-11703880)x1 http://identifiers.org/clinvar/60166 ^@ GRCh38/hg38 4p15.31(chr4:18595238-19175273)x1 http://identifiers.org/clinvar/60167 ^@ GRCh38/hg38 4q13.3(chr4:69758599-70193037)x1 http://identifiers.org/clinvar/60168 ^@ GRCh38/hg38 17q12(chr17:33670906-34596087)x3 http://identifiers.org/clinvar/60169 ^@ GRCh38/hg38 17q12(chr17:33715517-34301601)x3 http://identifiers.org/clinvar/60170 ^@ GRCh38/hg38 17q12(chr17:39365569-39612092)x3 http://identifiers.org/clinvar/60171 ^@ GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3 http://identifiers.org/clinvar/60172 ^@ GRCh38/hg38 17q24.3(chr17:70093968-70709796)x3 http://identifiers.org/clinvar/60173 ^@ GRCh38/hg38 17q25.3(chr17:77320131-77564650)x3 http://identifiers.org/clinvar/60174 ^@ GRCh38/hg38 17q25.3(chr17:78338863-78426117)x3 http://identifiers.org/clinvar/60175 ^@ GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3 http://identifiers.org/clinvar/60176 ^@ GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3 http://identifiers.org/clinvar/60177 ^@ GRCh38/hg38 17q25.3(chr17:82821407-83086677)x3 http://identifiers.org/clinvar/60178 ^@ GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1 http://identifiers.org/clinvar/60179 ^@ GRCh38/hg38 2p15(chr2:61515438-62305848)x1 http://identifiers.org/clinvar/60180 ^@ GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1 http://identifiers.org/clinvar/60181 ^@ GRCh38/hg38 2p13.2(chr2:72861062-72992130)x1 http://identifiers.org/clinvar/60182 ^@ GRCh38/hg38 2p11.2(chr2:86395172-86859284)x1 http://identifiers.org/clinvar/60183 ^@ GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1 http://identifiers.org/clinvar/60184 ^@ GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 http://identifiers.org/clinvar/60185 ^@ GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 http://identifiers.org/clinvar/60186 ^@ GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 http://identifiers.org/clinvar/60187 ^@ GRCh38/hg38 1q44(chr1:243786629-248918469)x1 http://identifiers.org/clinvar/60188 ^@ GRCh38/hg38 1q44(chr1:244222222-245502219)x1 http://identifiers.org/clinvar/60189 ^@ GRCh38/hg38 1q44(chr1:244222222-246492114)x1 http://identifiers.org/clinvar/60190 ^@ GRCh38/hg38 1q44(chr1:244498870-248918610)x1 http://identifiers.org/clinvar/60191 ^@ GRCh38/hg38 1q44(chr1:244582123-245762379)x1 http://identifiers.org/clinvar/60192 ^@ GRCh38/hg38 1q44(chr1:244692061-245647727)x1 http://identifiers.org/clinvar/60193 ^@ GRCh38/hg38 1q44(chr1:245584222-248918610)x1 http://identifiers.org/clinvar/60194 ^@ GRCh38/hg38 1q44(chr1:246386899-248918469)x1 http://identifiers.org/clinvar/60195 ^@ GRCh38/hg38 1q44(chr1:247092432-248918469)x1 http://identifiers.org/clinvar/60196 ^@ GRCh38/hg38 4q21.23(chr4:84669688-84856844)x1 http://identifiers.org/clinvar/60197 ^@ GRCh38/hg38 4q26-27(chr4:119471669-120176948)x1 http://identifiers.org/clinvar/60198 ^@ GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1 http://identifiers.org/clinvar/60199 ^@ GRCh38/hg38 4q28.3(chr4:136132427-136796756)x1 http://identifiers.org/clinvar/60200 ^@ GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1 http://identifiers.org/clinvar/60201 ^@ GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1 http://identifiers.org/clinvar/60202 ^@ GRCh38/hg38 4q32.1(chr4:157385121-157506916)x1 http://identifiers.org/clinvar/60203 ^@ GRCh38/hg38 4q35.2(chr4:186550538-187284289)x1 http://identifiers.org/clinvar/60204 ^@ GRCh38/hg38 4q35.2(chr4:186936679-187652502)x1 http://identifiers.org/clinvar/60205 ^@ GRCh38/hg38 18p11.32(chr18:829995-1782083)x3 http://identifiers.org/clinvar/60206 ^@ GRCh38/hg38 18q11.2(chr18:24411993-26628123)x3 http://identifiers.org/clinvar/60207 ^@ GRCh38/hg38 18q12.1(chr18:29444510-31247986)x3 http://identifiers.org/clinvar/60208 ^@ GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3 http://identifiers.org/clinvar/60209 ^@ GRCh38/hg38 18q12.3(chr18:39870652-41567658)x3 http://identifiers.org/clinvar/60210 ^@ GRCh38/hg38 18q12.3(chr18:40076655-41085594)x3 http://identifiers.org/clinvar/60211 ^@ GRCh38/hg38 18q21.31-21.32(chr18:58251999-58789954)x3 http://identifiers.org/clinvar/60212 ^@ GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1 http://identifiers.org/clinvar/60213 ^@ GRCh38/hg38 2q22.3(chr2:143873711-144513307)x1 http://identifiers.org/clinvar/60214 ^@ GRCh38/hg38 2q22.3(chr2:143988786-144558029)x1 http://identifiers.org/clinvar/60215 ^@ GRCh38/hg38 2q22.3(chr2:144164576-144505879)x1 http://identifiers.org/clinvar/60216 ^@ GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 http://identifiers.org/clinvar/60217 ^@ GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1 http://identifiers.org/clinvar/60218 ^@ GRCh38/hg38 2q23.1-23.3(chr2:148303135-153274626)x1 http://identifiers.org/clinvar/60219 ^@ GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 http://identifiers.org/clinvar/60220 ^@ GRCh38/hg38 4q35.2(chr4:187347785-190042639)x1 http://identifiers.org/clinvar/60221 ^@ GRCh38/hg38 4q35.2(chr4:187589886-188831793)x1 http://identifiers.org/clinvar/60222 ^@ GRCh38/hg38 4q35.2(chr4:187889646-189975660)x1 http://identifiers.org/clinvar/60223 ^@ GRCh38/hg38 4q35.2(chr4:188126577-188624331)x1 http://identifiers.org/clinvar/60224 ^@ GRCh38/hg38 5p15.33(chr5:21949-138472)x1 http://identifiers.org/clinvar/60225 ^@ GRCh38/hg38 5p15.33(chr5:22149-138331)x1 http://identifiers.org/clinvar/60226 ^@ GRCh38/hg38 5p15.2(chr5:11388771-11462289)x1 http://identifiers.org/clinvar/60227 ^@ GRCh38/hg38 5p15.1-14.3(chr5:17726921-18415513)x1 http://identifiers.org/clinvar/60228 ^@ GRCh38/hg38 18q22.3(chr18:72267740-73676450)x3 http://identifiers.org/clinvar/60229 ^@ GRCh38/hg38 18q23(chr18:77032666-77548627)x3 http://identifiers.org/clinvar/60230 ^@ GRCh38/hg38 18q23(chr18:77032666-77675655)x3 http://identifiers.org/clinvar/60231 ^@ GRCh38/hg38 19p13.3(chr19:677680-899104)x3 http://identifiers.org/clinvar/60232 ^@ GRCh38/hg38 19p13.3(chr19:1143045-1215323)x3 http://identifiers.org/clinvar/60233 ^@ GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3 http://identifiers.org/clinvar/60234 ^@ GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3 http://identifiers.org/clinvar/60235 ^@ GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3 http://identifiers.org/clinvar/60236 ^@ GRCh38/hg38 19p13.2(chr19:11807758-11868554)x3 http://identifiers.org/clinvar/60237 ^@ GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 http://identifiers.org/clinvar/60238 ^@ GRCh38/hg38 7q11.22(chr7:69832264-69865810)x1 http://identifiers.org/clinvar/60239 ^@ GRCh38/hg38 7q11.22(chr7:69918665-70724973)x1 http://identifiers.org/clinvar/60240 ^@ GRCh38/hg38 7q11.22(chr7:70474584-70780410)x1 http://identifiers.org/clinvar/60241 ^@ GRCh38/hg38 7q11.22(chr7:70504645-70739562)x1 http://identifiers.org/clinvar/60242 ^@ GRCh38/hg38 7q11.23(chr7:73352304-74133404)x1 http://identifiers.org/clinvar/60243 ^@ GRCh38/hg38 7q11.23(chr7:73614671-73942928)x1 http://identifiers.org/clinvar/60244 ^@ GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 http://identifiers.org/clinvar/60245 ^@ GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 http://identifiers.org/clinvar/60246 ^@ GRCh38/hg38 2q24.3(chr2:163714259-164468966)x1 http://identifiers.org/clinvar/60247 ^@ GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1 http://identifiers.org/clinvar/60248 ^@ GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 http://identifiers.org/clinvar/60249 ^@ GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 http://identifiers.org/clinvar/60250 ^@ GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 http://identifiers.org/clinvar/60251 ^@ GRCh38/hg38 2q24.3(chr2:166044436-166079787)x1 http://identifiers.org/clinvar/60252 ^@ GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1 http://identifiers.org/clinvar/60253 ^@ GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 http://identifiers.org/clinvar/60254 ^@ GRCh38/hg38 5p14.3(chr5:18415454-19617962)x1 http://identifiers.org/clinvar/60255 ^@ GRCh38/hg38 5p14.3(chr5:19125322-19722413)x1 http://identifiers.org/clinvar/60257 ^@ GRCh38/hg38 5p14.3(chr5:21852725-21964074)x1 http://identifiers.org/clinvar/60258 ^@ GRCh38/hg38 5p13.3(chr5:30121868-32072887)x1 http://identifiers.org/clinvar/60259 ^@ GRCh38/hg38 5p13.3(chr5:30138275-32106743)x1 http://identifiers.org/clinvar/60260 ^@ GRCh38/hg38 5p13.2-13.1(chr5:38397291-38433930)x1 http://identifiers.org/clinvar/60261 ^@ GRCh38/hg38 5p12(chr5:45183939-45972894)x1 http://identifiers.org/clinvar/60262 ^@ GRCh38/hg38 5q13.2(chr5:71620401-71725140)x1 http://identifiers.org/clinvar/60263 ^@ GRCh38/hg38 Xp22.31(chrX:8672728-8961059)x2 http://identifiers.org/clinvar/60264 ^@ GRCh38/hg38 Xp22.31(chrX:8695720-8700128)x3 http://identifiers.org/clinvar/60265 ^@ GRCh38/hg38 Xp22.31-22.2(chrX:9511509-10060397)x2 http://identifiers.org/clinvar/60266 ^@ GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 http://identifiers.org/clinvar/60267 ^@ GRCh38/hg38 Xp22.2(chrX:11240104-11903527)x3 http://identifiers.org/clinvar/60268 ^@ GRCh38/hg38 Xp22.2(chrX:11658644-12174505)x2 http://identifiers.org/clinvar/60269 ^@ GRCh38/hg38 Xp22.2(chrX:12169159-12615106)x2 http://identifiers.org/clinvar/60270 ^@ GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 http://identifiers.org/clinvar/60271 ^@ GRCh38/hg38 Xp22.2(chrX:12988378-13963060)x3 http://identifiers.org/clinvar/60272 ^@ GRCh38/hg38 19p13.12(chr19:15227306-15496644)x3 http://identifiers.org/clinvar/60273 ^@ GRCh38/hg38 19p13.12-13.11(chr19:16065434-16849373)x3 http://identifiers.org/clinvar/60274 ^@ GRCh38/hg38 Xp22.2(chrX:13325258-13744416)x2 http://identifiers.org/clinvar/60275 ^@ GRCh38/hg38 19q11-12(chr19:27362299-28173816)x3 http://identifiers.org/clinvar/60276 ^@ GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3 http://identifiers.org/clinvar/60277 ^@ GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3 http://identifiers.org/clinvar/60278 ^@ GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3 http://identifiers.org/clinvar/60279 ^@ GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 http://identifiers.org/clinvar/60280 ^@ GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 http://identifiers.org/clinvar/60281 ^@ GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 http://identifiers.org/clinvar/60282 ^@ GRCh38/hg38 7q22.1-22.3(chr7:101700341-105162893)x1 http://identifiers.org/clinvar/60283 ^@ GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1 http://identifiers.org/clinvar/60284 ^@ GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1 http://identifiers.org/clinvar/60285 ^@ GRCh38/hg38 7q31.1-31.31(chr7:110524677-118306203)x1 http://identifiers.org/clinvar/60286 ^@ GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1 http://identifiers.org/clinvar/60287 ^@ GRCh38/hg38 Xp22.12(chrX:20253700-20351706)x2 http://identifiers.org/clinvar/60288 ^@ GRCh38/hg38 Xp21.3(chrX:28415968-28811707)x3 http://identifiers.org/clinvar/60289 ^@ GRCh38/hg38 Xp21.1(chrX:32720062-32797373)x2 http://identifiers.org/clinvar/60290 ^@ GRCh38/hg38 Xp11.4(chrX:38631752-38769503)x2 http://identifiers.org/clinvar/60291 ^@ GRCh38/hg38 Xp11.4(chrX:39666120-40255787)x2 http://identifiers.org/clinvar/60292 ^@ GRCh38/hg38 Xp11.4(chrX:40375929-40810369)x2 http://identifiers.org/clinvar/60293 ^@ GRCh38/hg38 Xp11.4-11.3(chrX:41431518-43256505)x2 http://identifiers.org/clinvar/60294 ^@ GRCh38/hg38 Xp11.4(chrX:41630750-41807553)x3 http://identifiers.org/clinvar/60295 ^@ GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 http://identifiers.org/clinvar/60296 ^@ GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 http://identifiers.org/clinvar/60297 ^@ GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 http://identifiers.org/clinvar/60298 ^@ GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1 http://identifiers.org/clinvar/60299 ^@ GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 http://identifiers.org/clinvar/60300 ^@ GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 http://identifiers.org/clinvar/60301 ^@ GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 http://identifiers.org/clinvar/60302 ^@ GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 http://identifiers.org/clinvar/60303 ^@ GRCh38/hg38 Xp11.3(chrX:46156693-46636156)x3 http://identifiers.org/clinvar/60304 ^@ GRCh38/hg38 Xp11.3(chrX:46184889-46582592)x2 http://identifiers.org/clinvar/60305 ^@ GRCh38/hg38 Xp11.3(chrX:46456409-46476928)x3 http://identifiers.org/clinvar/60306 ^@ GRCh38/hg38 Xp11.3(chrX:46508077-46548482)x3 http://identifiers.org/clinvar/60307 ^@ GRCh38/hg38 Xp11.3(chrX:46514093-46548482)x3 http://identifiers.org/clinvar/60308 ^@ GRCh38/hg38 Xp11.3(chrX:46617620-46973582)x3 http://identifiers.org/clinvar/60309 ^@ GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 http://identifiers.org/clinvar/60310 ^@ GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3 http://identifiers.org/clinvar/60311 ^@ GRCh38/hg38 Xp11.22(chrX:53511777-53575140)x3 http://identifiers.org/clinvar/60312 ^@ GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 http://identifiers.org/clinvar/60313 ^@ GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 http://identifiers.org/clinvar/60314 ^@ GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1 http://identifiers.org/clinvar/60315 ^@ GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1 http://identifiers.org/clinvar/60316 ^@ GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1 http://identifiers.org/clinvar/60317 ^@ GRCh38/hg38 7q36.2-36.3(chr7:153833092-159282531)x1 http://identifiers.org/clinvar/60318 ^@ GRCh38/hg38 7q36.3(chr7:156544324-159325876)x1 http://identifiers.org/clinvar/60319 ^@ GRCh38/hg38 Xq11.2(chrX:64145374-64905930)x3 http://identifiers.org/clinvar/60320 ^@ GRCh38/hg38 Xq12(chrX:66548368-66732217)x2 http://identifiers.org/clinvar/60321 ^@ GRCh38/hg38 Xq12(chrX:66548368-66707636)x3 http://identifiers.org/clinvar/60322 ^@ GRCh38/hg38 Xq12(chrX:66548368-66706421)x3 http://identifiers.org/clinvar/60323 ^@ GRCh38/hg38 Xq12(chrX:67585642-68127021)x3 http://identifiers.org/clinvar/60324 ^@ GRCh38/hg38 Xq12-13.1(chrX:68126762-68820618)x3 http://identifiers.org/clinvar/60325 ^@ GRCh38/hg38 Xq12(chrX:68274851-68352331)x3 http://identifiers.org/clinvar/60326 ^@ GRCh38/hg38 Xq12-13.1(chrX:68441645-69382098)x3 http://identifiers.org/clinvar/60327 ^@ GRCh38/hg38 7q36.3(chr7:158568512-159281301)x1 http://identifiers.org/clinvar/60328 ^@ GRCh38/hg38 8p23.3(chr8:202100-2017223)x1 http://identifiers.org/clinvar/60329 ^@ GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1 http://identifiers.org/clinvar/60330 ^@ GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1 http://identifiers.org/clinvar/60331 ^@ GRCh38/hg38 8p23.3(chr8:241330-1847998)x1 http://identifiers.org/clinvar/60332 ^@ GRCh38/hg38 Xq13.1(chrX:69880987-70512644)x2 http://identifiers.org/clinvar/60333 ^@ GRCh38/hg38 Xq13.2-13.3(chrX:74383490-74837752)x2 http://identifiers.org/clinvar/60334 ^@ GRCh38/hg38 Xq21.1(chrX:77829855-78514258)x3 http://identifiers.org/clinvar/60335 ^@ GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x2 http://identifiers.org/clinvar/60336 ^@ GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2 http://identifiers.org/clinvar/60337 ^@ GRCh38/hg38 Xq21.1(chrX:80629216-81630346)x3 http://identifiers.org/clinvar/60338 ^@ GRCh38/hg38 Xq21.2-21.31(chrX:86903959-87454809)x2 http://identifiers.org/clinvar/60339 ^@ GRCh38/hg38 Xq21.31-21.32(chrX:92173555-93122179)x3 http://identifiers.org/clinvar/60340 ^@ GRCh38/hg38 Xq21.31-21.32(chrX:92524632-93685697)x2 http://identifiers.org/clinvar/60341 ^@ GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1 http://identifiers.org/clinvar/60342 ^@ GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1 http://identifiers.org/clinvar/60343 ^@ GRCh38/hg38 8p23.3-23.2(chr8:241530-4929678)x1 http://identifiers.org/clinvar/60344 ^@ GRCh38/hg38 8p23.3(chr8:241530-1532621)x1 http://identifiers.org/clinvar/60345 ^@ GRCh38/hg38 8p23.3-23.2(chr8:241530-4388060)x1 http://identifiers.org/clinvar/60346 ^@ GRCh38/hg38 8p23.3(chr8:1739267-1891412)x1 http://identifiers.org/clinvar/60347 ^@ GRCh38/hg38 8p23.1(chr8:8336212-9953226)x1 http://identifiers.org/clinvar/60348 ^@ GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1 http://identifiers.org/clinvar/60349 ^@ GRCh38/hg38 Xq21.33(chrX:95170882-95822404)x3 http://identifiers.org/clinvar/60350 ^@ GRCh38/hg38 Xq21.33(chrX:96635070-96965204)x2 http://identifiers.org/clinvar/60351 ^@ GRCh38/hg38 Xq22.1(chrX:100665849-101051159)x2 http://identifiers.org/clinvar/60352 ^@ GRCh38/hg38 Xq22.1(chrX:101359634-101641294)x2 http://identifiers.org/clinvar/60353 ^@ GRCh38/hg38 Xq23(chrX:110874013-111175998)x3 http://identifiers.org/clinvar/60354 ^@ GRCh38/hg38 Xq23(chrX:113074081-113682980)x3 http://identifiers.org/clinvar/60355 ^@ GRCh38/hg38 Xq23(chrX:114991761-115149960)x2 http://identifiers.org/clinvar/60356 ^@ GRCh38/hg38 Xq23(chrX:116637326-117352315)x3 http://identifiers.org/clinvar/60357 ^@ GRCh38/hg38 Xq24(chrX:118469705-119051420)x3 http://identifiers.org/clinvar/60358 ^@ GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 http://identifiers.org/clinvar/60359 ^@ GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 http://identifiers.org/clinvar/60360 ^@ GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)x1 http://identifiers.org/clinvar/60361 ^@ GRCh38/hg38 8p11.21(chr8:41690724-41867446)x1 http://identifiers.org/clinvar/60362 ^@ GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1 http://identifiers.org/clinvar/60363 ^@ GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1 http://identifiers.org/clinvar/60364 ^@ GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 http://identifiers.org/clinvar/60365 ^@ GRCh38/hg38 Xq24(chrX:118537419-119000684)x2 http://identifiers.org/clinvar/60366 ^@ GRCh38/hg38 Xq25(chrX:123469532-123590128)x2 http://identifiers.org/clinvar/60367 ^@ GRCh38/hg38 Xq25(chrX:123735950-124254925)x2 http://identifiers.org/clinvar/60368 ^@ GRCh38/hg38 Xq26.2(chrX:131368904-131826589)x2 http://identifiers.org/clinvar/60369 ^@ GRCh38/hg38 Xq26.2(chrX:131679218-132563491)x2 http://identifiers.org/clinvar/60370 ^@ GRCh38/hg38 Xq26.3(chrX:136005008-136665975)x2 http://identifiers.org/clinvar/60371 ^@ GRCh38/hg38 Xq26.3(chrX:137781164-138221806)x2 http://identifiers.org/clinvar/60372 ^@ GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 http://identifiers.org/clinvar/60373 ^@ GRCh38/hg38 8q13.3(chr8:71278615-71962825)x1 http://identifiers.org/clinvar/60375 ^@ GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1 http://identifiers.org/clinvar/60376 ^@ GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1 http://identifiers.org/clinvar/60377 ^@ GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 http://identifiers.org/clinvar/60378 ^@ GRCh38/hg38 16p11.2(chr16:29581262-30179388)x1 http://identifiers.org/clinvar/60379 ^@ GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 http://identifiers.org/clinvar/60380 ^@ GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 http://identifiers.org/clinvar/60381 ^@ GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 http://identifiers.org/clinvar/60382 ^@ GRCh38/hg38 16p11.2(chr16:29581462-30162533)x1 http://identifiers.org/clinvar/60383 ^@ GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 http://identifiers.org/clinvar/60385 ^@ GRCh38/hg38 16p11.2(chr16:29645363-30183432)x1 http://identifiers.org/clinvar/60386 ^@ GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 http://identifiers.org/clinvar/60387 ^@ GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 http://identifiers.org/clinvar/60388 ^@ GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1 http://identifiers.org/clinvar/60389 ^@ GRCh38/hg38 Xq27.1(chrX:139199307-139682289)x2 http://identifiers.org/clinvar/60390 ^@ GRCh38/hg38 Xq27.1(chrX:139605696-140302516)x3 http://identifiers.org/clinvar/60391 ^@ GRCh38/hg38 Xq27.1-27.2(chrX:141160282-142463521)x2 http://identifiers.org/clinvar/60392 ^@ GRCh38/hg38 Xq27.3(chrX:143118423-143816291)x3 http://identifiers.org/clinvar/60393 ^@ GRCh38/hg38 Xq28(chrX:149352525-149532248)x3 http://identifiers.org/clinvar/60394 ^@ GRCh38/hg38 Xq28(chrX:149570094-150326225)x2 http://identifiers.org/clinvar/60395 ^@ GRCh38/hg38 Xq28(chrX:149722144-150079450)x4 http://identifiers.org/clinvar/60396 ^@ GRCh38/hg38 Xq28(chrX:150449408-150750615)x3 http://identifiers.org/clinvar/60398 ^@ GRCh38/hg38 16p11.2(chr16:29653208-30162533)x1 http://identifiers.org/clinvar/60400 ^@ GRCh38/hg38 16p11.2(chr16:29662433-30179388)x1 http://identifiers.org/clinvar/60402 ^@ GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 http://identifiers.org/clinvar/60403 ^@ GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 http://identifiers.org/clinvar/60405 ^@ GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 http://identifiers.org/clinvar/60406 ^@ GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 http://identifiers.org/clinvar/60407 ^@ GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1 http://identifiers.org/clinvar/60408 ^@ GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 http://identifiers.org/clinvar/60409 ^@ GRCh38/hg38 16p11.2(chr16:29663527-30183432)x1 http://identifiers.org/clinvar/60410 ^@ GRCh38/hg38 16p11.2(chr16:29808232-30162533)x1 http://identifiers.org/clinvar/60411 ^@ GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 http://identifiers.org/clinvar/60412 ^@ GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 http://identifiers.org/clinvar/60413 ^@ GRCh38/hg38 16p11.2(chr16:29829840-30183432)x1 http://identifiers.org/clinvar/60414 ^@ GRCh38/hg38 16p11.2(chr16:29844610-30187279)x1 http://identifiers.org/clinvar/60415 ^@ GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 http://identifiers.org/clinvar/60416 ^@ GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 http://identifiers.org/clinvar/60417 ^@ GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 http://identifiers.org/clinvar/60418 ^@ GRCh38/hg38 Xq28(chrX:152789896-153047281)x2 http://identifiers.org/clinvar/60419 ^@ GRCh38/hg38 Xq28(chrX:152795555-152912145)x3 http://identifiers.org/clinvar/60420 ^@ GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 http://identifiers.org/clinvar/60421 ^@ GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 http://identifiers.org/clinvar/60422 ^@ GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 http://identifiers.org/clinvar/60423 ^@ GRCh38/hg38 Xq28(chrX:154791149-155996431)x3 http://identifiers.org/clinvar/60424 ^@ GRCh38/hg38 Xq28(chrX:155007151-155491717)x3 http://identifiers.org/clinvar/60425 ^@ GRCh38/hg38 17p12(chr17:14208255-15538893)x3 http://identifiers.org/clinvar/60426 ^@ GRCh38/hg38 17p12(chr17:14208255-15538893)x1 http://identifiers.org/clinvar/60427 ^@ GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 http://identifiers.org/clinvar/60428 ^@ GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1 http://identifiers.org/clinvar/60429 ^@ GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 http://identifiers.org/clinvar/60430 ^@ GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 http://identifiers.org/clinvar/60431 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 http://identifiers.org/clinvar/60432 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 http://identifiers.org/clinvar/60433 ^@ GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 http://identifiers.org/clinvar/60434 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 http://identifiers.org/clinvar/60435 ^@ GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1 http://identifiers.org/clinvar/60436 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 http://identifiers.org/clinvar/60437 ^@ GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 http://identifiers.org/clinvar/60438 ^@ GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 http://identifiers.org/clinvar/60439 ^@ GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 http://identifiers.org/clinvar/60440 ^@ GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 http://identifiers.org/clinvar/60441 ^@ GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 http://identifiers.org/clinvar/60442 ^@ GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2 http://identifiers.org/clinvar/60443 ^@ GRCh38/hg38 Yp11.2(chrY:2863399-9007152)x2 http://identifiers.org/clinvar/60444 ^@ GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2 http://identifiers.org/clinvar/60445 ^@ GRCh38/hg38 Yq11.221-11.222(chrY:12586822-18664380)x2 http://identifiers.org/clinvar/60449 ^@ GRCh38/hg38 Xq28(chrX:155717169-156022206)x3 http://identifiers.org/clinvar/60450 ^@ GRCh38/hg38 Xq28(chrX:155745005-155996431)x3 http://identifiers.org/clinvar/60451 ^@ GRCh38/hg38 Xq28(chrX:155782123-155967288)x3 http://identifiers.org/clinvar/60452 ^@ GRCh38/hg38 Yq11.222(chrY:17251556-19150076)x2 http://identifiers.org/clinvar/60453 ^@ GRCh38/hg38 Yq11.222(chrY:17473635-18712542)x2 http://identifiers.org/clinvar/60454 ^@ GRCh38/hg38 Yq11.223-11.23(chrY:22728116-24198731)x2 http://identifiers.org/clinvar/60455 ^@ GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 http://identifiers.org/clinvar/60456 ^@ GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 http://identifiers.org/clinvar/60457 ^@ GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 http://identifiers.org/clinvar/60458 ^@ GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 http://identifiers.org/clinvar/60459 ^@ GRCh38/hg38 17q11.2(chr17:30613848-31875279)x1 http://identifiers.org/clinvar/60460 ^@ GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1 http://identifiers.org/clinvar/60461 ^@ GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1 http://identifiers.org/clinvar/60462 ^@ GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1 http://identifiers.org/clinvar/60470 ^@ GRCh38/hg38 17q12(chr17:36180741-38169599)x1 http://identifiers.org/clinvar/60471 ^@ GRCh38/hg38 17q12(chr17:36422657-37890225)x1 http://identifiers.org/clinvar/60472 ^@ GRCh38/hg38 17q12(chr17:36566143-37808136)x1 http://identifiers.org/clinvar/60473 ^@ GRCh38/hg38 17q12(chr17:36493974-37890225)x1 http://identifiers.org/clinvar/60474 ^@ GRCh38/hg38 17q12(chr17:36566143-37814129)x1 http://identifiers.org/clinvar/60475 ^@ GRCh38/hg38 17q12(chr17:36500015-37889437)x3 http://identifiers.org/clinvar/60476 ^@ GRCh37/hg19 17q12(chr17:34855855-36249059)x1 http://identifiers.org/clinvar/60477 ^@ GRCh38/hg38 17q12(chr17:36566143-37864575)x1 http://identifiers.org/clinvar/60478 ^@ NM_001003688.1(SMAD1):c.8T>C (p.Val3Ala) http://identifiers.org/clinvar/60479 ^@ NM_002246.2(KCNK3):c.608G>A (p.Gly203Asp) http://identifiers.org/clinvar/60480 ^@ NM_002246.2(KCNK3):c.289G>A (p.Gly97Arg) http://identifiers.org/clinvar/60481 ^@ NM_002246.2(KCNK3):c.661G>C (p.Val221Leu) http://identifiers.org/clinvar/60482 ^@ NM_002246.2(KCNK3):c.544G>A (p.Glu182Lys) http://identifiers.org/clinvar/60483 ^@ NM_002246.2(KCNK3):c.575A>G (p.Tyr192Cys) http://identifiers.org/clinvar/60484 ^@ NM_080605.3(B3GALT6):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/60485 ^@ NM_080605.3(B3GALT6):c.694C>T (p.Arg232Cys) http://identifiers.org/clinvar/60486 ^@ NM_080605.3(B3GALT6):c.466G>A (p.Asp156Asn) http://identifiers.org/clinvar/60487 ^@ NM_080605.3(B3GALT6):c.899G>C (p.Cys300Ser) http://identifiers.org/clinvar/60488 ^@ NM_080605.3(B3GALT6):c.193A>G (p.Ser65Gly) http://identifiers.org/clinvar/60489 ^@ NM_080605.3(B3GALT6):c.200C>T (p.Pro67Leu) http://identifiers.org/clinvar/60490 ^@ NM_080605.3(B3GALT6):c.353delA (p.Asp118Alafs) http://identifiers.org/clinvar/60491 ^@ NM_080605.3(B3GALT6):c.925T>A (p.Ser309Thr) http://identifiers.org/clinvar/60492 ^@ NM_080605.3(B3GALT6):c.588delG (p.Arg197Alafs) http://identifiers.org/clinvar/60493 ^@ NM_080605.3(B3GALT6):c.16C>T (p.Arg6Trp) http://identifiers.org/clinvar/60494 ^@ NM_080605.3(B3GALT6):c.415_423delATGCTGGCC (p.Met139_Ala141del) http://identifiers.org/clinvar/60495 ^@ NM_080605.3(B3GALT6):c.619G>C (p.Asp207His) http://identifiers.org/clinvar/60496 ^@ NM_080605.3(B3GALT6):c.649G>A (p.Gly217Ser) http://identifiers.org/clinvar/60497 ^@ NM_080605.3(B3GALT6):c.323_344del22 (p.Ala108Glyfs) http://identifiers.org/clinvar/60506 ^@ NM_006912.5(RIT1):c.170C>G (p.Ala57Gly) http://identifiers.org/clinvar/60509 ^@ NM_006912.5(RIT1):c.284G>C (p.Gly95Ala) http://identifiers.org/clinvar/60510 ^@ NM_021942.5(TRAPPC11):c.2938G>A (p.Gly980Arg) http://identifiers.org/clinvar/60511 ^@ NM_021942.5(TRAPPC11):c.1287+5G>A http://identifiers.org/clinvar/60512 ^@ NM_152393.3(KLHL40):c.1582G>A (p.Glu528Lys) http://identifiers.org/clinvar/60513 ^@ NM_152393.3(KLHL40):c.1405G>T (p.Gly469Cys) http://identifiers.org/clinvar/60514 ^@ NM_152393.3(KLHL40):c.602G>T (p.Trp201Leu) http://identifiers.org/clinvar/60515 ^@ NM_152393.3(KLHL40):c.1612G>C (p.Ala538Pro) http://identifiers.org/clinvar/60516 ^@ NM_152393.3(KLHL40):c.602G>A (p.Trp201Ter) http://identifiers.org/clinvar/60521 ^@ MUSK, MET605ILE http://identifiers.org/clinvar/60522 ^@ NM_005592.3(MUSK):c.2180C>T (p.Ala727Val) http://identifiers.org/clinvar/60523 ^@ NM_001478.4(B4GALNT1):c.395delC (p.Pro132Glnfs) http://identifiers.org/clinvar/60524 ^@ NM_001478.4(B4GALNT1):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/60525 ^@ NM_001478.4(B4GALNT1):c.263dupG (p.Leu89Profs) http://identifiers.org/clinvar/60526 ^@ NM_001478.4(B4GALNT1):c.358C>T (p.Gln120Ter) http://identifiers.org/clinvar/60527 ^@ NM_001478.4(B4GALNT1):c.1298A>C (p.Asp433Ala) http://identifiers.org/clinvar/60533 ^@ NM_001001557.3:c.876G>Y http://identifiers.org/clinvar/60534 ^@ NM_001001557.3(GDF6):c.169G>C (p.Asp57His) http://identifiers.org/clinvar/60535 ^@ NM_001134831.1(AHI1):c.1052G>T (p.Arg351Leu) http://identifiers.org/clinvar/60536 ^@ NM_015697.7(COQ2):c.382A>G (p.Met128Val) http://identifiers.org/clinvar/60537 ^@ NM_015697.7(COQ2):c.1028T>C (p.Val343Ala) http://identifiers.org/clinvar/60538 ^@ NM_015697.7(COQ2):c.1159C>T (p.Arg387Ter) http://identifiers.org/clinvar/60539 ^@ NM_015697.7(COQ2):c.1160G>A (p.Arg387Gln) http://identifiers.org/clinvar/60540 ^@ NM_021971.2(GMPPB):c.1000G>A (p.Asp334Asn) http://identifiers.org/clinvar/60541 ^@ NM_013334.3(GMPPB):c.220C>T (p.Arg74Ter) http://identifiers.org/clinvar/60542 ^@ NM_013334.3(GMPPB):c.64C>T (p.Pro22Ser) http://identifiers.org/clinvar/60543 ^@ NM_021971.2(GMPPB):c.553C>T (p.Arg185Cys) http://identifiers.org/clinvar/60544 ^@ NM_013334.3(GMPPB):c.95C>T (p.Pro32Leu) http://identifiers.org/clinvar/60545 ^@ NM_013334.3(GMPPB):c.860G>A (p.Arg287Gln) http://identifiers.org/clinvar/60546 ^@ NM_013334.3(GMPPB):c.79G>C (p.Asp27His) http://identifiers.org/clinvar/60547 ^@ NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) http://identifiers.org/clinvar/60554 ^@ NM_138638.4(CFL2):c.19G>A (p.Val7Met) http://identifiers.org/clinvar/60555 ^@ NM_006486.2(FBLN1):c.1190G>T (p.Cys397Phe) http://identifiers.org/clinvar/60557 ^@ NM_000125.3(ESR1):c.1125G>T (p.Gln375His) http://identifiers.org/clinvar/60558 ^@ NM_205850.2(SLC24A5):c.571_572insTAAT (p.Tyr191Leufs) http://identifiers.org/clinvar/60559 ^@ NM_205850.2(SLC24A5):c.591G>A (p.Trp197Ter) http://identifiers.org/clinvar/60560 ^@ NM_205850.2(SLC24A5):c.1361dupT (p.Leu454Phefs) http://identifiers.org/clinvar/60561 ^@ NM_004415.3(DSP):c.7780delT (p.Ser2594Profs) http://identifiers.org/clinvar/60562 ^@ NM_203447.3(DOCK8):c.3494delC (p.Thr1165Lysfs) http://identifiers.org/clinvar/60563 ^@ NM_203447.3(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169Trpfs) http://identifiers.org/clinvar/60639 ^@ NM_005590.3(MRE11):c.*1359T>C http://identifiers.org/clinvar/60640 ^@ NM_005590.3(MRE11):c.*2731G>A http://identifiers.org/clinvar/60641 ^@ NM_005590.3(MRE11):c.*570A>C http://identifiers.org/clinvar/60642 ^@ NM_005590.3(MRE11):c.*631C>T http://identifiers.org/clinvar/60643 ^@ NM_005590.3(MRE11):c.-105-326A>T http://identifiers.org/clinvar/60644 ^@ NM_005590.3(MRE11):c.-106+391C>T http://identifiers.org/clinvar/60645 ^@ NM_005590.3(MRE11):c.1098+1177G>A http://identifiers.org/clinvar/60646 ^@ NM_005590.3(MRE11):c.1098+1408A>G http://identifiers.org/clinvar/60647 ^@ NM_005590.3(MRE11):c.1098+1620T>C http://identifiers.org/clinvar/60648 ^@ NM_005590.3(MRE11):c.1098+614C>T http://identifiers.org/clinvar/60649 ^@ NM_005590.3(MRE11):c.1202A>G (p.His401Arg) http://identifiers.org/clinvar/60650 ^@ NM_005590.3(MRE11):c.1225+40T>C http://identifiers.org/clinvar/60651 ^@ NM_005590.3(MRE11):c.1225+572A>T http://identifiers.org/clinvar/60652 ^@ NM_005590.3(MRE11):c.1225+577A>C http://identifiers.org/clinvar/60653 ^@ NM_005590.3(MRE11):c.1225+605T>C http://identifiers.org/clinvar/60654 ^@ NM_005590.3(MRE11):c.1225+804T>C http://identifiers.org/clinvar/60655 ^@ NM_005590.3(MRE11):c.1327-461A>C http://identifiers.org/clinvar/60656 ^@ NM_005590.3(MRE11):c.1783+561G>A http://identifiers.org/clinvar/60657 ^@ NM_005590.3(MRE11):c.1783+888A>G http://identifiers.org/clinvar/60658 ^@ NM_005590.3(MRE11):c.20+821G>A http://identifiers.org/clinvar/60659 ^@ NM_005590.3(MRE11):c.314+99A>G http://identifiers.org/clinvar/60660 ^@ NM_005590.3(MRE11):c.545-297G>T http://identifiers.org/clinvar/60661 ^@ NM_002067.4(GNA11):c.598_600delATC (p.Ile200del) http://identifiers.org/clinvar/60662 ^@ NM_002067.4(GNA11):c.404T>A (p.Leu135Gln) http://identifiers.org/clinvar/60663 ^@ NM_002067.4(GNA11):c.542G>A (p.Arg181Gln) http://identifiers.org/clinvar/60664 ^@ NM_002067.4(GNA11):c.1023C>G (p.Phe341Leu) http://identifiers.org/clinvar/60665 ^@ NM_002067.4(GNA11):c.178C>T (p.Arg60Cys) http://identifiers.org/clinvar/60666 ^@ NM_002067.4(GNA11):c.632C>G (p.Ser211Trp) http://identifiers.org/clinvar/60667 ^@ NM_000388.3(CASR):c.662C>T (p.Pro221Leu) http://identifiers.org/clinvar/60668 ^@ NM_000388.3(CASR):c.662C>A (p.Pro221Gln) http://identifiers.org/clinvar/60669 ^@ NM_000388.3(CASR):c.85A>G (p.Lys29Glu) http://identifiers.org/clinvar/60671 ^@ NM_024006.5(VKORC1):c.-226-1362dupG http://identifiers.org/clinvar/60672 ^@ NM_005590.3(MRE11):c.1563+281G>A http://identifiers.org/clinvar/60673 ^@ NM_000032.4(ALAS2):c.1642C>T (p.Gln548Ter) http://identifiers.org/clinvar/60674 ^@ NM_000032.4(ALAS2):c.1651_1676del26 (p.Ser551Profs) http://identifiers.org/clinvar/60675 ^@ NM_003793.3(CTSF):c.962A>G (p.Gln321Arg) http://identifiers.org/clinvar/60676 ^@ NM_003793.3(CTSF):c.1373G>C (p.Gly458Ala) http://identifiers.org/clinvar/60677 ^@ NM_003793.3(CTSF):c.1439C>T (p.Ser480Leu) http://identifiers.org/clinvar/60678 ^@ NM_003793.3(CTSF):c.692A>G (p.Tyr231Cys) http://identifiers.org/clinvar/60679 ^@ NM_003793.3(CTSF):c.954delC (p.Ser319Leufs) http://identifiers.org/clinvar/60682 ^@ NM_005391.4(PDK3):c.473G>A (p.Arg158His) http://identifiers.org/clinvar/60683 ^@ NM_020435.3(GJC2):c.787G>A (p.Glu263Lys) http://identifiers.org/clinvar/60684 ^@ NM_015375.2(DSTYK):c.654+1G>A http://identifiers.org/clinvar/60685 ^@ NM_015375.2(DSTYK):c.24G>A (p.Trp8Ter) http://identifiers.org/clinvar/60686 ^@ NM_015375.2(DSTYK):c.655-3C>T http://identifiers.org/clinvar/60687 ^@ NM_015375.2(DSTYK):c.86G>A (p.Arg29Gln) http://identifiers.org/clinvar/60688 ^@ NM_001005360.2(DNM2):c.1135T>G (p.Phe379Val) http://identifiers.org/clinvar/60689 ^@ NM_213599.2(ANO5):c.1541C>T (p.Thr514Ile) http://identifiers.org/clinvar/60699 ^@ NM_007262.4(PARK7):c.-24+75_-24+92dup http://identifiers.org/clinvar/60706 ^@ NM_000518.4(HBB):c.-80del http://identifiers.org/clinvar/60708 ^@ NM_000816.3(GABRG2):c.968G>A (p.Arg323Gln) http://identifiers.org/clinvar/60709 ^@ NM_014191.3(SCN8A):c.3991C>G (p.Leu1331Val) http://identifiers.org/clinvar/60710 ^@ NM_001271.3(CHD2):c.1809delG (p.Thr604Leufs) http://identifiers.org/clinvar/60711 ^@ CHD2, GLU1412GLYFSTER64 http://identifiers.org/clinvar/60712 ^@ NM_001271.3(CHD2):c.361C>T (p.Arg121Ter) http://identifiers.org/clinvar/60713 ^@ CHD2, GLY491VALFSTER13 http://identifiers.org/clinvar/60714 ^@ CHD2, ARG1644LYSFSTER22 http://identifiers.org/clinvar/60715 ^@ CHD2, TRP548ARG http://identifiers.org/clinvar/60716 ^@ NM_006772.2(SYNGAP1):c.427C>T (p.Arg143Ter) http://identifiers.org/clinvar/60717 ^@ SYNGAP1, TRP267TER http://identifiers.org/clinvar/60718 ^@ MBD5, THR157GLNFSTER4 http://identifiers.org/clinvar/60719 ^@ NM_021828.4(HPSE2):c.1628A>T (p.Asn543Ile) http://identifiers.org/clinvar/60723 ^@ NM_002838.4(PTPRC):c.1624A>T (p.Lys542Ter) http://identifiers.org/clinvar/60724 ^@ NM_022114.3(PRDM16):c.2104A>T (p.Lys702Ter) http://identifiers.org/clinvar/60725 ^@ PRDM16, 1-BP DUP, 1573C http://identifiers.org/clinvar/60726 ^@ NM_022114.3(PRDM16):c.2447A>G (p.Asn816Ser) http://identifiers.org/clinvar/60727 ^@ NM_022114.3(PRDM16):c.3301G>A (p.Val1101Met) http://identifiers.org/clinvar/60728 ^@ NM_022114.3(PRDM16):c.872C>T (p.Pro291Leu) http://identifiers.org/clinvar/60729 ^@ NM_022114.3(PRDM16):c.2660T>C (p.Leu887Pro) http://identifiers.org/clinvar/242663 ^@ NM_001040113.1(MYH11):c.4599+1G>T http://identifiers.org/clinvar/60752 ^@ NM_001130089.1(KARS):c.517T>C (p.Tyr173His) http://identifiers.org/clinvar/60753 ^@ NM_001130089.1(KARS):c.1129G>A (p.Asp377Asn) http://identifiers.org/clinvar/60754 ^@ NM_004249.3(RAB28):c.565C>T (p.Gln189Ter) http://identifiers.org/clinvar/60755 ^@ NM_001017979.2(RAB28):c.409C>T (p.Arg137Ter) http://identifiers.org/clinvar/60759 ^@ NM_001014796.1(DDR2):c.337G>A (p.Glu113Lys) http://identifiers.org/clinvar/60761 ^@ NM_181523.2(PIK3R1):c.1615_1617delATT (p.Ile539del) http://identifiers.org/clinvar/60762 ^@ NM_181523.2(PIK3R1):c.1465G>A (p.Glu489Lys) http://identifiers.org/clinvar/60763 ^@ NM_181523.2(PIK3R1):c.1945C>T (p.Arg649Trp) http://identifiers.org/clinvar/60764 ^@ NM_181523.2(PIK3R1):c.1943dupT (p.Arg649Profs) http://identifiers.org/clinvar/60765 ^@ NM_181523.2(PIK3R1):c.1906_1907insC (p.Asn636Thrfs) http://identifiers.org/clinvar/60767 ^@ NM_001037.4(SCN1B):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/60768 ^@ NM_001037.4(SCN1B):c.457G>A (p.Asp153Asn) http://identifiers.org/clinvar/60769 ^@ NM_004588.4(SCN2B):c.82C>T (p.Arg28Trp) http://identifiers.org/clinvar/60770 ^@ NM_004588.4(SCN2B):c.83G>A (p.Arg28Gln) http://identifiers.org/clinvar/60771 ^@ NM_001875.4(CPS1):c.1571G>T (p.Gly524Val) http://identifiers.org/clinvar/60775 ^@ NM_001256849.1(POLD1):c.1812_1814delCTC (p.Ser605del) http://identifiers.org/clinvar/60776 ^@ NM_004588.4(SCN2B):c.632A>G (p.Asp211Gly) http://identifiers.org/clinvar/60777 ^@ NM_020631.4(PLEKHG5):c.38delC (p.Pro13Hisfs) http://identifiers.org/clinvar/60778 ^@ NM_020631.4(PLEKHG5):c.912_918dupTGAAGAC (p.Glu307Terfs) http://identifiers.org/clinvar/60779 ^@ NM_020631.4(PLEKHG5):c.2458G>C (p.Gly820Arg) http://identifiers.org/clinvar/60780 ^@ NM_020631.4(PLEKHG5):c.1988C>T (p.Thr663Met) http://identifiers.org/clinvar/64355 ^@ NM_173551.4(ANKS6):c.1322A>G (p.Gln441Arg) http://identifiers.org/clinvar/64356 ^@ NM_173551.4(ANKS6):c.1973-3C>G http://identifiers.org/clinvar/64357 ^@ NM_173551.4(ANKS6):c.2054_2064delATCGGTCAAGC (p.His685Profs) http://identifiers.org/clinvar/64358 ^@ NM_173551.4(ANKS6):c.2370_2372delTCA (p.Tyr790_Ala871del) http://identifiers.org/clinvar/64359 ^@ NM_173551.4(ANKS6):c.2512-2A>C http://identifiers.org/clinvar/64367 ^@ NM_006946.2(SPTBN2):c.1881C>A (p.Cys627Ter) http://identifiers.org/clinvar/64368 ^@ NM_006946.2(SPTBN2):c.1438C>T (p.Arg480Trp) http://identifiers.org/clinvar/64369 ^@ NM_006946.2(SPTBN2):c.2864_2868delCCTCA (p.Thr955Serfs) http://identifiers.org/clinvar/64370 ^@ NG_001332.2:g.1074699G>A http://identifiers.org/clinvar/64371 ^@ NM_005546.3(ITK):c.1764C>G (p.Tyr588Ter) http://identifiers.org/clinvar/64372 ^@ NM_005546.3(ITK):c.86G>A (p.Arg29His) http://identifiers.org/clinvar/64373 ^@ NM_003383.4(VLDLR):c.2117G>T (p.Cys706Phe) http://identifiers.org/clinvar/64374 ^@ NM_000084.4(CLCN5):c.1618G>A (p.Ala540Thr) http://identifiers.org/clinvar/64375 ^@ NM_000084.4(CLCN5):c.1774G>A (p.Asp592Asn) http://identifiers.org/clinvar/64376 ^@ NM_000084.4(CLCN5):c.657C>T (p.Cys219=) http://identifiers.org/clinvar/64377 ^@ NM_000085.4(CLCNKB):c.1675G>A (p.Ala559Thr) http://identifiers.org/clinvar/64378 ^@ NM_000085.4(CLCNKB):c.1944T>G (p.Phe648Leu) http://identifiers.org/clinvar/64379 ^@ NM_000085.4(CLCNKB):c.2002G>C (p.Val668Leu) http://identifiers.org/clinvar/64380 ^@ NM_000085.4(CLCNKB):c.23G>A (p.Arg8His) http://identifiers.org/clinvar/64381 ^@ NM_000085.4(CLCNKB):c.71C>T (p.Pro24Leu) http://identifiers.org/clinvar/64382 ^@ NM_000112.3(SLC26A2):c.1215C>G (p.Ala405=) http://identifiers.org/clinvar/64383 ^@ NM_000112.3(SLC26A2):c.172C>T (p.Arg58Cys) http://identifiers.org/clinvar/64384 ^@ NM_000112.3(SLC26A2):c.1798T>C (p.Tyr600His) http://identifiers.org/clinvar/64385 ^@ NM_000112.3(SLC26A2):c.1996A>G (p.Thr666Ala) http://identifiers.org/clinvar/64386 ^@ NM_000112.3(SLC26A2):c.81C>G (p.Ile27Met) http://identifiers.org/clinvar/64387 ^@ NM_000220.4(KCNJ1):c.*5G>A http://identifiers.org/clinvar/64388 ^@ NM_000220.4(KCNJ1):c.1084G>A (p.Glu362Lys) http://identifiers.org/clinvar/64389 ^@ NM_000220.4(KCNJ1):c.1085A>C (p.Glu362Ala) http://identifiers.org/clinvar/64390 ^@ NM_000220.4(KCNJ1):c.155A>C (p.Glu52Ala) http://identifiers.org/clinvar/64391 ^@ NM_000220.4(KCNJ1):c.299A>G (p.Tyr100Cys) http://identifiers.org/clinvar/64392 ^@ NM_000220.4(KCNJ1):c.319A>G (p.Lys107Glu) http://identifiers.org/clinvar/64393 ^@ NM_000220.4(KCNJ1):c.776A>C (p.Asn259Thr) http://identifiers.org/clinvar/64394 ^@ NM_000315.3(PTH):c.122A>G (p.Asn41Ser) http://identifiers.org/clinvar/64395 ^@ NM_000315.3(PTH):c.300G>T (p.Glu100Asp) http://identifiers.org/clinvar/64396 ^@ NM_000316.2(PTH1R):c.1155C>T (p.Leu385=) http://identifiers.org/clinvar/64397 ^@ NM_000316.2(PTH1R):c.124C>T (p.His42Tyr) http://identifiers.org/clinvar/64398 ^@ NM_000316.2(PTH1R):c.1304C>T (p.Thr435Met) http://identifiers.org/clinvar/64399 ^@ NM_000316.2(PTH1R):c.316C>T (p.Arg106Cys) http://identifiers.org/clinvar/64400 ^@ NM_000316.2(PTH1R):c.526A>T (p.Asn176Tyr) http://identifiers.org/clinvar/64401 ^@ NM_000316.2(PTH1R):c.678G>T (p.Leu226=) http://identifiers.org/clinvar/64402 ^@ NM_000316.2(PTH1R):c.805C>T (p.Pro269Ser) http://identifiers.org/clinvar/64403 ^@ NM_000316.2(PTH1R):c.875T>C (p.Leu292Pro) http://identifiers.org/clinvar/64404 ^@ NM_000338.2(SLC12A1):c.1149C>T (p.Val383=) http://identifiers.org/clinvar/64405 ^@ NM_000338.2(SLC12A1):c.13A>G (p.Asn5Asp) http://identifiers.org/clinvar/64406 ^@ NM_000338.2(SLC12A1):c.1998T>C (p.Asn666=) http://identifiers.org/clinvar/64407 ^@ NM_000338.2(SLC12A1):c.2176A>T (p.Lys726Ter) http://identifiers.org/clinvar/64408 ^@ NM_000338.2(SLC12A1):c.2177A>T (p.Lys726Met) http://identifiers.org/clinvar/64409 ^@ NM_000338.2(SLC12A1):c.2262C>T (p.Asp754=) http://identifiers.org/clinvar/64410 ^@ NM_000338.2(SLC12A1):c.386C>T (p.Pro129Leu) http://identifiers.org/clinvar/64411 ^@ NM_000338.2(SLC12A1):c.503A>G (p.Glu168Gly) http://identifiers.org/clinvar/64412 ^@ NM_000338.2(SLC12A1):c.510T>A (p.Asp170Glu) http://identifiers.org/clinvar/64413 ^@ NM_000339.2(SLC12A3):c.1189G>A (p.Val397Met) http://identifiers.org/clinvar/64414 ^@ NM_000339.2(SLC12A3):c.1429G>A (p.Ala477Thr) http://identifiers.org/clinvar/64415 ^@ NM_000339.2(SLC12A3):c.1710G>A (p.Ala570=) http://identifiers.org/clinvar/64416 ^@ NM_000339.2(SLC12A3):c.1956C>A (p.Pro652=) http://identifiers.org/clinvar/64417 ^@ NM_000339.2(SLC12A3):c.2310C>T (p.Gly770=) http://identifiers.org/clinvar/64418 ^@ NM_000339.2(SLC12A3):c.697A>G (p.Met233Val) http://identifiers.org/clinvar/64419 ^@ NM_000339.2(SLC12A3):c.861G>T (p.Val287=) http://identifiers.org/clinvar/64420 ^@ NM_000342.3(SLC4A1):c.1284A>G (p.Gly428=) http://identifiers.org/clinvar/64421 ^@ NM_000342.3(SLC4A1):c.1375C>T (p.Leu459=) http://identifiers.org/clinvar/64422 ^@ NM_000342.3(SLC4A1):c.2694G>A (p.Glu898=) http://identifiers.org/clinvar/64423 ^@ NM_000342.3(SLC4A1):c.2701C>T (p.Arg901Trp) http://identifiers.org/clinvar/64424 ^@ NM_000376.2(VDR):c.238C>A (p.Arg80=) http://identifiers.org/clinvar/64425 ^@ NM_000376.2(VDR):c.259A>G (p.Ile87Val) http://identifiers.org/clinvar/64426 ^@ NM_000388.3(CASR):c.1069A>T (p.Asn357Tyr) http://identifiers.org/clinvar/64427 ^@ NM_000388.3(CASR):c.1192G>A (p.Asp398Asn) http://identifiers.org/clinvar/64428 ^@ NM_000388.3(CASR):c.1209T>C (p.Ser403=) http://identifiers.org/clinvar/64429 ^@ NM_000388.3(CASR):c.1395G>A (p.Arg465=) http://identifiers.org/clinvar/64430 ^@ NM_000388.3(CASR):c.1629C>T (p.Ser543=) http://identifiers.org/clinvar/64431 ^@ NM_000388.3(CASR):c.1668G>A (p.Glu556=) http://identifiers.org/clinvar/64432 ^@ NM_000388.3(CASR):c.2597G>T (p.Arg866Leu) http://identifiers.org/clinvar/64433 ^@ NM_000388.3(CASR):c.2777A>G (p.Gln926Arg) http://identifiers.org/clinvar/64434 ^@ NM_000388.3(CASR):c.2920A>T (p.Thr974Ser) http://identifiers.org/clinvar/64435 ^@ NM_000388.3(CASR):c.2944C>T (p.Pro982Ser) http://identifiers.org/clinvar/64436 ^@ NM_000388.3(CASR):c.3107T>C (p.Val1036Ala) http://identifiers.org/clinvar/64437 ^@ NM_000388.3(CASR):c.501T>C (p.Tyr167=) http://identifiers.org/clinvar/64438 ^@ NM_000388.3(CASR):c.740C>T (p.Ser247Phe) http://identifiers.org/clinvar/64439 ^@ NM_000388.3(CASR):c.920T>C (p.Met307Thr) http://identifiers.org/clinvar/64440 ^@ NM_000388.3(CASR):c.99C>T (p.Ile33=) http://identifiers.org/clinvar/64441 ^@ NM_001008389.2(UMOD):c.*8C>T http://identifiers.org/clinvar/64442 ^@ NM_001008389.2(UMOD):c.1028C>T (p.Ser343Leu) http://identifiers.org/clinvar/64443 ^@ NM_001008389.2(UMOD):c.1648G>A (p.Val550Ile) http://identifiers.org/clinvar/64444 ^@ NM_001008389.2(UMOD):c.1763G>A (p.Arg588Gln) http://identifiers.org/clinvar/64445 ^@ NM_001008389.2(UMOD):c.567C>T (p.Tyr189=) http://identifiers.org/clinvar/64446 ^@ NM_001008389.2(UMOD):c.797C>T (p.Ala266Val) http://identifiers.org/clinvar/64447 ^@ NM_001008389.2(UMOD):c.933C>T (p.Gly311=) http://identifiers.org/clinvar/64448 ^@ NM_001011554.2(SLC13A3):c.151A>T (p.Ile51Phe) http://identifiers.org/clinvar/64449 ^@ NM_001040454.1(SLC26A6):c.1478C>T (p.Ser493Phe) http://identifiers.org/clinvar/64450 ^@ NM_001040454.1(SLC26A6):c.1503G>A (p.Thr501=) http://identifiers.org/clinvar/64451 ^@ NM_001040454.1(SLC26A6):c.1555G>C (p.Val519Leu) http://identifiers.org/clinvar/64452 ^@ NM_001040454.1(SLC26A6):c.1568G>A (p.Arg523His) http://identifiers.org/clinvar/64453 ^@ NM_001040454.1(SLC26A6):c.1590T>A (p.Phe530Leu) http://identifiers.org/clinvar/64454 ^@ NM_001040454.1(SLC26A6):c.1839C>T (p.Ser613=) http://identifiers.org/clinvar/64455 ^@ NM_001040454.1(SLC26A6):c.2018A>T (p.His673Leu) http://identifiers.org/clinvar/64456 ^@ NM_001040454.1(SLC26A6):c.302G>A (p.Gly101Asp) http://identifiers.org/clinvar/64457 ^@ NM_001040454.1(SLC26A6):c.619G>C (p.Val207Leu) http://identifiers.org/clinvar/64458 ^@ NM_001040454.1(SLC26A6):c.646C>A (p.Leu216Ile) http://identifiers.org/clinvar/64459 ^@ NM_001042704.1(CLCNKA):c.1147G>T (p.Asp383Tyr) http://identifiers.org/clinvar/64460 ^@ NM_001042704.1(CLCNKA):c.1327G>A (p.Ala443Thr) http://identifiers.org/clinvar/64461 ^@ NM_001042704.1(CLCNKA):c.1974A>G (p.Thr658=) http://identifiers.org/clinvar/64462 ^@ NM_001042704.1(CLCNKA):c.74G>A (p.Cys25Tyr) http://identifiers.org/clinvar/64463 ^@ NM_001042704.1(CLCNKA):c.753G>C (p.Arg251=) http://identifiers.org/clinvar/64464 ^@ NM_001042704.1(CLCNKA):c.754C>T (p.Leu252Phe) http://identifiers.org/clinvar/64465 ^@ NM_001096.2(ACLY):c.-67C>T http://identifiers.org/clinvar/64466 ^@ NM_001096.2(ACLY):c.1122A>C (p.Thr374=) http://identifiers.org/clinvar/64467 ^@ NM_001096.2(ACLY):c.1395G>A (p.Ala465=) http://identifiers.org/clinvar/64468 ^@ NM_001096.2(ACLY):c.1484G>A (p.Arg495His) http://identifiers.org/clinvar/64469 ^@ NM_001096.2(ACLY):c.1765G>A (p.Ala589Thr) http://identifiers.org/clinvar/64470 ^@ NM_001096.2(ACLY):c.2747C>T (p.Ala916Val) http://identifiers.org/clinvar/64471 ^@ NM_001096.2(ACLY):c.2895G>A (p.Lys965=) http://identifiers.org/clinvar/64472 ^@ NM_001096.2(ACLY):c.465C>A (p.Gly155=) http://identifiers.org/clinvar/64473 ^@ NM_001096.2(ACLY):c.652G>A (p.Ala218Thr) http://identifiers.org/clinvar/64474 ^@ NM_001096.2(ACLY):c.789C>T (p.Ser263=) http://identifiers.org/clinvar/64475 ^@ NM_001098.2(ACO2):c.1776T>C (p.Cys592=) http://identifiers.org/clinvar/64476 ^@ NM_001098.2(ACO2):c.1927G>A (p.Val643Ile) http://identifiers.org/clinvar/64477 ^@ NM_001098.2(ACO2):c.250C>T (p.Arg84Ter) http://identifiers.org/clinvar/64478 ^@ NM_001123395.1(CLDN19):c.*778T>A http://identifiers.org/clinvar/64479 ^@ NM_001123395.1(CLDN19):c.128C>T (p.Ala43Val) http://identifiers.org/clinvar/64480 ^@ NM_001123395.1(CLDN19):c.153G>T (p.Trp51Cys) http://identifiers.org/clinvar/64481 ^@ NM_001123395.1(CLDN19):c.301G>A (p.Gly101Ser) http://identifiers.org/clinvar/64482 ^@ NM_001130012.2(SLC9A3R2):c.252G>A (p.Arg84=) http://identifiers.org/clinvar/64483 ^@ NM_001130012.2(SLC9A3R2):c.486G>A (p.Gly162=) http://identifiers.org/clinvar/64484 ^@ NM_001145975.1(SLC13A2):c.1473G>A (p.Glu491=) http://identifiers.org/clinvar/64485 ^@ NM_001145975.1(SLC13A2):c.1517C>T (p.Pro506Leu) http://identifiers.org/clinvar/64486 ^@ NM_001146077.1(CLDN14):c.15C>T (p.Ala5=) http://identifiers.org/clinvar/64487 ^@ NM_001146077.1(CLDN14):c.18G>A (p.Val6=) http://identifiers.org/clinvar/64488 ^@ NM_001146077.1(CLDN14):c.60C>T (p.Gly20=) http://identifiers.org/clinvar/64489 ^@ NM_001146077.1(CLDN14):c.663G>A (p.Arg221=) http://identifiers.org/clinvar/64490 ^@ NM_001160100.1(CLDN10):c.255C>T (p.Val85=) http://identifiers.org/clinvar/64491 ^@ NM_001160100.1(CLDN10):c.357C>A (p.Asn119Lys) http://identifiers.org/clinvar/64492 ^@ NM_001160100.1(CLDN10):c.442G>T (p.Ala148Ser) http://identifiers.org/clinvar/64493 ^@ NM_001167579.1(SLC34A1):c.303G>A (p.Leu101=) http://identifiers.org/clinvar/64494 ^@ NM_001167579.1(SLC34A1):c.660C>G (p.Ala220=) http://identifiers.org/clinvar/64495 ^@ NM_001171092.1(CLDN2):c.193G>C (p.Asp65His) http://identifiers.org/clinvar/64496 ^@ NM_001171092.1(CLDN2):c.522C>T (p.Ser174=) http://identifiers.org/clinvar/64497 ^@ NM_001177316.1(SLC34A3):c.1051C>T (p.Arg351Cys) http://identifiers.org/clinvar/64498 ^@ NM_001177316.1(SLC34A3):c.1143G>A (p.Ala381=) http://identifiers.org/clinvar/64499 ^@ NM_001177316.1(SLC34A3):c.218T>C (p.Val73Ala) http://identifiers.org/clinvar/64500 ^@ NM_001177316.1(SLC34A3):c.245G>T (p.Ser82Ile) http://identifiers.org/clinvar/64501 ^@ NM_001177316.1(SLC34A3):c.439G>A (p.Ala147Thr) http://identifiers.org/clinvar/64502 ^@ NM_001177316.1(SLC34A3):c.472C>T (p.Pro158Ser) http://identifiers.org/clinvar/64503 ^@ NM_001177316.1(SLC34A3):c.516C>G (p.Thr172=) http://identifiers.org/clinvar/64504 ^@ NM_001177316.1(SLC34A3):c.572G>A (p.Gly191Asp) http://identifiers.org/clinvar/64505 ^@ NM_001177316.1(SLC34A3):c.585C>T (p.His195=) http://identifiers.org/clinvar/64506 ^@ NM_002614.4(PDZK1):c.62G>A (p.Gly21Asp) http://identifiers.org/clinvar/64507 ^@ NM_003040.3(SLC4A2):c.2220G>T (p.Val740=) http://identifiers.org/clinvar/64508 ^@ NM_003040.3(SLC4A2):c.2242G>T (p.Ala748Ser) http://identifiers.org/clinvar/64509 ^@ NM_003040.3(SLC4A2):c.237C>T (p.His79=) http://identifiers.org/clinvar/64510 ^@ NM_003040.3(SLC4A2):c.3140C>T (p.Ala1047Val) http://identifiers.org/clinvar/64511 ^@ NM_003040.3(SLC4A2):c.3342C>T (p.Pro1114=) http://identifiers.org/clinvar/64512 ^@ NM_003040.3(SLC4A2):c.3358G>A (p.Gly1120Arg) http://identifiers.org/clinvar/64513 ^@ NM_003040.3(SLC4A2):c.3474C>T (p.Val1158=) http://identifiers.org/clinvar/64514 ^@ NM_003040.3(SLC4A2):c.3550G>A (p.Ala1184Thr) http://identifiers.org/clinvar/64515 ^@ NM_003040.3(SLC4A2):c.3559C>T (p.Leu1187=) http://identifiers.org/clinvar/64516 ^@ NM_003040.3(SLC4A2):c.53C>T (p.Pro18Leu) http://identifiers.org/clinvar/64517 ^@ NM_003040.3(SLC4A2):c.61G>A (p.Glu21Lys) http://identifiers.org/clinvar/64518 ^@ NM_003040.3(SLC4A2):c.646G>A (p.Gly216Arg) http://identifiers.org/clinvar/64519 ^@ NM_003040.3(SLC4A2):c.94G>A (p.Glu32Lys) http://identifiers.org/clinvar/64520 ^@ NM_003052.4(SLC34A1):c.1432T>C (p.Phe478Leu) http://identifiers.org/clinvar/64521 ^@ NM_003052.4(SLC34A1):c.1707G>T (p.Leu569=) http://identifiers.org/clinvar/64522 ^@ NM_003052.4(SLC34A1):c.1739C>A (p.Pro580His) http://identifiers.org/clinvar/64523 ^@ NM_003052.4(SLC34A1):c.1912C>T (p.Arg638Cys) http://identifiers.org/clinvar/64524 ^@ NM_004252.4(SLC9A3R1):c.1030C>G (p.Pro344Ala) http://identifiers.org/clinvar/64525 ^@ NM_004252.4(SLC9A3R1):c.33G>T (p.Leu11=) http://identifiers.org/clinvar/64526 ^@ NM_004252.4(SLC9A3R1):c.708C>G (p.Asp236Glu) http://identifiers.org/clinvar/64527 ^@ NM_004252.4(SLC9A3R1):c.958A>T (p.Ile320Phe) http://identifiers.org/clinvar/64528 ^@ NM_004570.5(PIK3C2G):c.1077A>T (p.Lys359Asn) http://identifiers.org/clinvar/64529 ^@ NM_004570.5(PIK3C2G):c.2591T>G (p.Leu864Arg) http://identifiers.org/clinvar/64530 ^@ NM_004570.5(PIK3C2G):c.2686A>T (p.Thr896Ser) http://identifiers.org/clinvar/64531 ^@ NM_004570.5(PIK3C2G):c.2795T>C (p.Val932Ala) http://identifiers.org/clinvar/64532 ^@ NM_004570.5(PIK3C2G):c.3336G>A (p.Leu1112=) http://identifiers.org/clinvar/64533 ^@ NM_004570.5(PIK3C2G):c.3693A>G (p.Glu1231=) http://identifiers.org/clinvar/64534 ^@ NM_004570.5(PIK3C2G):c.3699C>A (p.Ser1233Arg) http://identifiers.org/clinvar/64535 ^@ NM_004752.3(GCM2):c.1168T>C (p.Ser390Pro) http://identifiers.org/clinvar/64536 ^@ NM_004752.3(GCM2):c.1277A>C (p.Tyr426Ser) http://identifiers.org/clinvar/64537 ^@ NM_004752.3(GCM2):c.303G>T (p.Leu101=) http://identifiers.org/clinvar/64538 ^@ NM_004752.3(GCM2):c.477T>C (p.His159=) http://identifiers.org/clinvar/64539 ^@ NM_004752.3(GCM2):c.665A>T (p.Glu222Val) http://identifiers.org/clinvar/64540 ^@ NM_004752.3(GCM2):c.782A>T (p.Tyr261Phe) http://identifiers.org/clinvar/64541 ^@ NM_004752.3(GCM2):c.831G>T (p.Leu277Phe) http://identifiers.org/clinvar/64542 ^@ NM_004752.3(GCM2):c.833C>T (p.Ala278Val) http://identifiers.org/clinvar/64543 ^@ NM_004752.3(GCM2):c.852T>C (p.Asn284=) http://identifiers.org/clinvar/64544 ^@ NM_004752.3(GCM2):c.906A>T (p.Thr302=) http://identifiers.org/clinvar/64545 ^@ NM_004795.3(KL):c.2505C>G (p.Asp835Glu) http://identifiers.org/clinvar/64546 ^@ NM_004795.3(KL):c.2683A>G (p.Ile895Val) http://identifiers.org/clinvar/64547 ^@ NM_004795.3(KL):c.2684T>C (p.Ile895Thr) http://identifiers.org/clinvar/64548 ^@ NM_004795.3(KL):c.2862G>A (p.Pro954=) http://identifiers.org/clinvar/64549 ^@ NM_004795.3(KL):c.3029G>A (p.Ser1010Asn) http://identifiers.org/clinvar/64550 ^@ NM_004795.3(KL):c.387C>T (p.Tyr129=) http://identifiers.org/clinvar/64551 ^@ NM_004795.3(KL):c.497A>G (p.Asn166Ser) http://identifiers.org/clinvar/64552 ^@ NM_004795.3(KL):c.639C>A (p.Ala213=) http://identifiers.org/clinvar/64553 ^@ NM_005070.3(SLC4A3):c.146A>G (p.Asp49Gly) http://identifiers.org/clinvar/64554 ^@ NM_005070.3(SLC4A3):c.2233G>A (p.Val745Met) http://identifiers.org/clinvar/64555 ^@ NM_005070.3(SLC4A3):c.2784G>A (p.Gly928=) http://identifiers.org/clinvar/64556 ^@ NM_005070.3(SLC4A3):c.3066C>T (p.Ser1022=) http://identifiers.org/clinvar/64557 ^@ NM_005070.3(SLC4A3):c.371C>T (p.Pro124Leu) http://identifiers.org/clinvar/64558 ^@ NM_005070.3(SLC4A3):c.664C>A (p.Pro222Thr) http://identifiers.org/clinvar/64559 ^@ NM_005070.3(SLC4A3):c.681C>T (p.Ala227=) http://identifiers.org/clinvar/64560 ^@ NM_005984.4(SLC25A1):c.138C>A (p.Thr46=) http://identifiers.org/clinvar/64561 ^@ NM_005984.4(SLC25A1):c.286C>T (p.Pro96Ser) http://identifiers.org/clinvar/64562 ^@ NM_005984.4(SLC25A1):c.615G>A (p.Leu205=) http://identifiers.org/clinvar/64563 ^@ NM_005984.4(SLC25A1):c.697G>A (p.Ala233Thr) http://identifiers.org/clinvar/64564 ^@ NM_018646.5(TRPV6):c.1463G>A (p.Ser?Asn) http://identifiers.org/clinvar/64565 ^@ NM_018646.5(TRPV6):c.1558A>C (p.Ile?Leu) http://identifiers.org/clinvar/64566 ^@ NM_018646.5(TRPV6):c.1904C>A (p.Ala?Asp) http://identifiers.org/clinvar/64567 ^@ NM_018646.5(TRPV6):c.402C>T (p.Ala?=) http://identifiers.org/clinvar/64568 ^@ NM_019841.6(TRPV5):c.1035G>A (p.Thr345=) http://identifiers.org/clinvar/64569 ^@ NM_019841.6(TRPV5):c.1829G>A (p.Arg610His) http://identifiers.org/clinvar/64570 ^@ NM_019841.6(TRPV5):c.1968G>A (p.Lys656=) http://identifiers.org/clinvar/64571 ^@ NM_019841.6(TRPV5):c.33C>T (p.Pro11=) http://identifiers.org/clinvar/64572 ^@ NM_019841.6(TRPV5):c.470G>A (p.Arg157His) http://identifiers.org/clinvar/64573 ^@ NM_019841.6(TRPV5):c.535G>A (p.Val179Met) http://identifiers.org/clinvar/64574 ^@ NM_019841.6(TRPV5):c.966C>T (p.Asn322=) http://identifiers.org/clinvar/64575 ^@ NM_020638.2(FGF23):c.623A>G (p.Gln208Arg) http://identifiers.org/clinvar/64576 ^@ NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) http://identifiers.org/clinvar/64577 ^@ NM_022042.3(SLC26A1):c.1043T>C (p.Leu348Pro) http://identifiers.org/clinvar/64578 ^@ NM_022042.3(SLC26A1):c.1363C>T (p.Arg455Cys) http://identifiers.org/clinvar/64579 ^@ NM_022042.3(SLC26A1):c.1406C>T (p.Ala469Val) http://identifiers.org/clinvar/64580 ^@ NM_022042.3(SLC26A1):c.1448T>A (p.Leu483Gln) http://identifiers.org/clinvar/64581 ^@ NM_022042.3(SLC26A1):c.1459G>A (p.Glu487Lys) http://identifiers.org/clinvar/64582 ^@ NM_022042.3(SLC26A1):c.1509C>T (p.Gly503=) http://identifiers.org/clinvar/97115 ^@ NM_000531.5(OTC):c.143T>C (p.Phe48Ser) http://identifiers.org/clinvar/97116 ^@ NM_000531.5(OTC):c.145A>C (p.Thr49Pro) http://identifiers.org/clinvar/97117 ^@ NM_000531.5(OTC):c.148G>A (p.Gly50Arg) http://identifiers.org/clinvar/97118 ^@ NM_000531.5(OTC):c.154G>A (p.Glu52Lys) http://identifiers.org/clinvar/97119 ^@ NM_000531.5(OTC):c.154G>T (p.Glu52Ter) http://identifiers.org/clinvar/97120 ^@ NM_000531.5(OTC):c.155A>G (p.Glu52Gly) http://identifiers.org/clinvar/97121 ^@ NM_000531.5(OTC):c.156A>T (p.Glu52Asp) http://identifiers.org/clinvar/97122 ^@ NM_000531.5(OTC):c.158T>C (p.Ile53Thr) http://identifiers.org/clinvar/97123 ^@ NM_000531.5(OTC):c.158T>G (p.Ile53Ser) http://identifiers.org/clinvar/97124 ^@ NM_000531.5(OTC):c.163T>G (p.Tyr55Asp) http://identifiers.org/clinvar/97125 ^@ NM_000531.5(OTC):c.167T>C (p.Met56Thr) http://identifiers.org/clinvar/97126 ^@ NM_000531.5(OTC):c.170T>A (p.Leu57Gln) http://identifiers.org/clinvar/97127 ^@ NM_000531.5(OTC):c.174G>A (p.Trp58Ter) http://identifiers.org/clinvar/97128 ^@ NM_000531.5(OTC):c.179C>T (p.Ser60Leu) http://identifiers.org/clinvar/97129 ^@ NM_000531.5(OTC):c.188T>C (p.Leu63Pro) http://identifiers.org/clinvar/97130 ^@ NM_000531.5(OTC):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/97131 ^@ NM_000531.5(OTC):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/97132 ^@ NM_000531.5(OTC):c.200T>G (p.Ile67Arg) http://identifiers.org/clinvar/97133 ^@ NM_000531.5(OTC):c.205C>T (p.Gln69Ter) http://identifiers.org/clinvar/97134 ^@ NM_000531.5(OTC):c.216+1G>A http://identifiers.org/clinvar/97135 ^@ NM_000531.5(OTC):c.216+1G>T http://identifiers.org/clinvar/97136 ^@ NM_000531.5(OTC):c.217-1G>A http://identifiers.org/clinvar/97137 ^@ NM_000531.5(OTC):c.227T>C (p.Leu76Ser) http://identifiers.org/clinvar/97138 ^@ NM_000531.5(OTC):c.231G>T (p.Leu77Phe) http://identifiers.org/clinvar/97139 ^@ NM_000531.5(OTC):c.232C>T (p.Gln78Ter) http://identifiers.org/clinvar/97140 ^@ NM_000531.5(OTC):c.240G>T (p.Lys80Asn) http://identifiers.org/clinvar/97141 ^@ NM_000531.5(OTC):c.243_245delCTT (p.Leu82del) http://identifiers.org/clinvar/97142 ^@ NM_000531.5(OTC):c.245T>G (p.Leu82Ter) http://identifiers.org/clinvar/97143 ^@ NM_000531.5(OTC):c.247G>C (p.Gly83Arg) http://identifiers.org/clinvar/97144 ^@ NM_000531.5(OTC):c.248G>A (p.Gly83Asp) http://identifiers.org/clinvar/97145 ^@ NM_000531.5(OTC):c.264A>T (p.Lys88Asn) http://identifiers.org/clinvar/97146 ^@ NM_000531.5(OTC):c.268A>G (p.Ser90Gly) http://identifiers.org/clinvar/97147 ^@ NM_000531.5(OTC):c.269G>A (p.Ser90Asn) http://identifiers.org/clinvar/97148 ^@ NM_000531.5(OTC):c.270T>G (p.Ser90Arg) http://identifiers.org/clinvar/97149 ^@ NM_000531.5(OTC):c.271delA (p.Thr91Leufs) http://identifiers.org/clinvar/97150 ^@ NM_000531.5(OTC):c.274C>G (p.Arg92Gly) http://identifiers.org/clinvar/97151 ^@ NM_000531.5(OTC):c.274C>T (p.Arg92Ter) http://identifiers.org/clinvar/97152 ^@ NM_000531.5(OTC):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/97153 ^@ NM_000531.5(OTC):c.275G>C (p.Arg92Pro) http://identifiers.org/clinvar/97154 ^@ NM_000531.5(OTC):c.275G>T (p.Arg92Leu) http://identifiers.org/clinvar/97155 ^@ NM_000531.5(OTC):c.277A>G (p.Thr93Ala) http://identifiers.org/clinvar/97156 ^@ NM_000531.5(OTC):c.284T>C (p.Leu95Ser) http://identifiers.org/clinvar/97157 ^@ NM_000531.5(OTC):c.28_31delAACA (p.Asn10Metfs) http://identifiers.org/clinvar/97158 ^@ NM_000531.5(OTC):c.292G>A (p.Glu98Lys) http://identifiers.org/clinvar/97159 ^@ NM_000531.5(OTC):c.298+1G>A http://identifiers.org/clinvar/97160 ^@ NM_000531.5(OTC):c.298+1G>T http://identifiers.org/clinvar/97161 ^@ NM_000531.5(OTC):c.298+1_298+5delGTAAG http://identifiers.org/clinvar/97162 ^@ NM_000531.5(OTC):c.298+5G>C http://identifiers.org/clinvar/97163 ^@ NM_000531.5(OTC):c.299G>A (p.Gly100Asp) http://identifiers.org/clinvar/97164 ^@ NM_000531.5(OTC):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/97165 ^@ NM_000531.5(OTC):c.305C>A (p.Ala102Glu) http://identifiers.org/clinvar/97166 ^@ NM_000531.5(OTC):c.314G>T (p.Gly105Val) http://identifiers.org/clinvar/97167 ^@ NM_000531.5(OTC):c.316G>A (p.Gly106Arg) http://identifiers.org/clinvar/97168 ^@ NM_000531.5(OTC):c.317G>A (p.Gly106Glu) http://identifiers.org/clinvar/97169 ^@ NM_000531.5(OTC):c.317G>T (p.Gly106Val) http://identifiers.org/clinvar/97170 ^@ NM_000531.5(OTC):c.327delT (p.Thr112Profs) http://identifiers.org/clinvar/97171 ^@ NM_000531.5(OTC):c.350A>G (p.His117Arg) http://identifiers.org/clinvar/97172 ^@ NM_000531.5(OTC):c.350A>T (p.His117Leu) http://identifiers.org/clinvar/97173 ^@ NM_000531.5(OTC):c.358_359delGT (p.Val120Glufs) http://identifiers.org/clinvar/97174 ^@ NM_000531.5(OTC):c.364_365insTT (p.Glu122Valfs) http://identifiers.org/clinvar/97175 ^@ NM_000531.5(OTC):c.374C>T (p.Thr125Met) http://identifiers.org/clinvar/97176 ^@ NM_000531.5(OTC):c.375delG (p.Asp126Thrfs) http://identifiers.org/clinvar/97177 ^@ NM_000531.5(OTC):c.377A>G (p.Asp126Gly) http://identifiers.org/clinvar/97178 ^@ NM_000531.5(OTC):c.386+1G>A http://identifiers.org/clinvar/97179 ^@ NM_000531.5(OTC):c.386+1G>T http://identifiers.org/clinvar/97180 ^@ NM_000531.5(OTC):c.386+2T>C http://identifiers.org/clinvar/97181 ^@ NM_000531.5(OTC):c.386G>C (p.Arg129Pro) http://identifiers.org/clinvar/97182 ^@ NM_000531.5(OTC):c.386G>T (p.Arg129Leu) http://identifiers.org/clinvar/97183 ^@ NM_000531.5(OTC):c.387-2A>C http://identifiers.org/clinvar/97184 ^@ NM_000531.5(OTC):c.387-2A>G http://identifiers.org/clinvar/97185 ^@ NM_000531.5(OTC):c.390_391insTTA (p.Leu131_Ser132insLeu) http://identifiers.org/clinvar/97186 ^@ NM_000531.5(OTC):c.392T>C (p.Leu131Ser) http://identifiers.org/clinvar/97187 ^@ NM_000531.5(OTC):c.394T>C (p.Ser132Pro) http://identifiers.org/clinvar/97188 ^@ NM_000531.5(OTC):c.395C>T (p.Ser132Phe) http://identifiers.org/clinvar/97189 ^@ NM_000531.5(OTC):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/97190 ^@ NM_000531.5(OTC):c.403delG (p.Ala135Glnfs) http://identifiers.org/clinvar/97191 ^@ NM_000531.5(OTC):c.404C>A (p.Ala135Glu) http://identifiers.org/clinvar/97192 ^@ NM_000531.5(OTC):c.407A>T (p.Asp136Val) http://identifiers.org/clinvar/97193 ^@ NM_000531.5(OTC):c.409G>A (p.Ala137Thr) http://identifiers.org/clinvar/97194 ^@ NM_000531.5(OTC):c.40delT (p.Phe14Leufs) http://identifiers.org/clinvar/97195 ^@ NM_000531.5(OTC):c.416T>C (p.Leu139Ser) http://identifiers.org/clinvar/97196 ^@ NM_000531.5(OTC):c.418G>C (p.Ala140Pro) http://identifiers.org/clinvar/97197 ^@ NM_000531.5(OTC):c.421C>G (p.Arg141Gly) http://identifiers.org/clinvar/97198 ^@ NM_000531.5(OTC):c.422G>C (p.Arg141Pro) http://identifiers.org/clinvar/97199 ^@ NM_000531.5(OTC):c.425T>A (p.Val142Glu) http://identifiers.org/clinvar/97200 ^@ NM_000531.5(OTC):c.430A>T (p.Lys144Ter) http://identifiers.org/clinvar/97201 ^@ NM_000531.5(OTC):c.437C>G (p.Ser146Ter) http://identifiers.org/clinvar/97202 ^@ NM_000531.5(OTC):c.443T>C (p.Leu148Ser) http://identifiers.org/clinvar/97203 ^@ NM_000531.5(OTC):c.443T>G (p.Leu148Trp) http://identifiers.org/clinvar/97204 ^@ NM_000531.5(OTC):c.444G>T (p.Leu148Phe) http://identifiers.org/clinvar/97205 ^@ NM_000531.5(OTC):c.449delC (p.Leu151Trpfs) http://identifiers.org/clinvar/97206 ^@ NM_000531.5(OTC):c.452T>G (p.Leu151Arg) http://identifiers.org/clinvar/97207 ^@ NM_000531.5(OTC):c.455C>T (p.Ala152Val) http://identifiers.org/clinvar/97208 ^@ NM_000531.5(OTC):c.463G>C (p.Ala155Pro) http://identifiers.org/clinvar/97209 ^@ NM_000531.5(OTC):c.463G>T (p.Ala155Ser) http://identifiers.org/clinvar/97210 ^@ NM_000531.5(OTC):c.464C>A (p.Ala155Glu) http://identifiers.org/clinvar/97211 ^@ NM_000531.5(OTC):c.476T>C (p.Ile159Thr) http://identifiers.org/clinvar/97212 ^@ NM_000531.5(OTC):c.479T>A (p.Ile160Asn) http://identifiers.org/clinvar/97213 ^@ NM_000531.5(OTC):c.479T>C (p.Ile160Thr) http://identifiers.org/clinvar/97214 ^@ NM_000531.5(OTC):c.479T>G (p.Ile160Ser) http://identifiers.org/clinvar/97215 ^@ NM_000531.5(OTC):c.481A>G (p.Asn161Asp) http://identifiers.org/clinvar/97216 ^@ NM_000531.5(OTC):c.482A>G (p.Asn161Ser) http://identifiers.org/clinvar/97217 ^@ NM_000531.5(OTC):c.484G>C (p.Gly162Arg) http://identifiers.org/clinvar/97218 ^@ NM_000531.5(OTC):c.485G>A (p.Gly162Glu) http://identifiers.org/clinvar/97219 ^@ NM_000531.5(OTC):c.490T>C (p.Ser164Pro) http://identifiers.org/clinvar/97220 ^@ NM_000531.5(OTC):c.491C>G (p.Ser164Ter) http://identifiers.org/clinvar/97221 ^@ NM_000531.5(OTC):c.493G>T (p.Asp165Tyr) http://identifiers.org/clinvar/97222 ^@ NM_000531.5(OTC):c.501C>A (p.Tyr167Ter) http://identifiers.org/clinvar/97223 ^@ NM_000531.5(OTC):c.501C>G (p.Tyr167Ter) http://identifiers.org/clinvar/97224 ^@ NM_000531.5(OTC):c.503A>C (p.His168Pro) http://identifiers.org/clinvar/97225 ^@ NM_000531.5(OTC):c.503A>G (p.His168Arg) http://identifiers.org/clinvar/97226 ^@ NM_000531.5(OTC):c.504T>A (p.His168Gln) http://identifiers.org/clinvar/97227 ^@ NM_000531.5(OTC):c.505C>G (p.Pro169Ala) http://identifiers.org/clinvar/97228 ^@ NM_000531.5(OTC):c.506C>T (p.Pro169Leu) http://identifiers.org/clinvar/97229 ^@ NM_000531.5(OTC):c.514A>T (p.Ile172Phe) http://identifiers.org/clinvar/97230 ^@ NM_000531.5(OTC):c.516C>G (p.Ile172Met) http://identifiers.org/clinvar/97231 ^@ NM_000531.5(OTC):c.520G>C (p.Ala174Pro) http://identifiers.org/clinvar/97232 ^@ NM_000531.5(OTC):c.524A>G (p.Asp175Gly) http://identifiers.org/clinvar/97233 ^@ NM_000531.5(OTC):c.524A>T (p.Asp175Val) http://identifiers.org/clinvar/97234 ^@ NM_000531.5(OTC):c.526T>C (p.Tyr176His) http://identifiers.org/clinvar/97235 ^@ NM_000531.5(OTC):c.527A>G (p.Tyr176Cys) http://identifiers.org/clinvar/97236 ^@ NM_000531.5(OTC):c.532_537delACGCTC (p.Thr178_Leu179del) http://identifiers.org/clinvar/97237 ^@ NM_000531.5(OTC):c.533C>T (p.Thr178Met) http://identifiers.org/clinvar/97238 ^@ NM_000531.5(OTC):c.536T>C (p.Leu179Pro) http://identifiers.org/clinvar/97239 ^@ NM_000531.5(OTC):c.53delA (p.His18Profs) http://identifiers.org/clinvar/97240 ^@ NM_000531.5(OTC):c.540+1G>C http://identifiers.org/clinvar/97241 ^@ NM_000531.5(OTC):c.540+2T>A http://identifiers.org/clinvar/97242 ^@ NM_000531.5(OTC):c.540G>C (p.Gln180His) http://identifiers.org/clinvar/97243 ^@ NM_000531.5(OTC):c.541-2A>G http://identifiers.org/clinvar/97244 ^@ NM_000531.5(OTC):c.542A>G (p.Glu181Gly) http://identifiers.org/clinvar/97245 ^@ NM_000531.5(OTC):c.545A>T (p.His182Leu) http://identifiers.org/clinvar/97246 ^@ NM_000531.5(OTC):c.547T>G (p.Tyr183Asp) http://identifiers.org/clinvar/97247 ^@ NM_000531.5(OTC):c.548A>G (p.Tyr183Cys) http://identifiers.org/clinvar/97248 ^@ NM_000531.5(OTC):c.562G>C (p.Gly188Arg) http://identifiers.org/clinvar/97249 ^@ NM_000531.5(OTC):c.563G>T (p.Gly188Val) http://identifiers.org/clinvar/97250 ^@ NM_000531.5(OTC):c.571C>T (p.Leu191Phe) http://identifiers.org/clinvar/97251 ^@ NM_000531.5(OTC):c.576C>G (p.Ser192Arg) http://identifiers.org/clinvar/97252 ^@ NM_000531.5(OTC):c.577T>C (p.Trp193Arg) http://identifiers.org/clinvar/97253 ^@ NM_000531.5(OTC):c.577T>G (p.Trp193Gly) http://identifiers.org/clinvar/97254 ^@ NM_000531.5(OTC):c.578G>A (p.Trp193Ter) http://identifiers.org/clinvar/97255 ^@ NM_000531.5(OTC):c.583G>A (p.Gly195Arg) http://identifiers.org/clinvar/97256 ^@ NM_000531.5(OTC):c.583delG (p.Asp196Metfs) http://identifiers.org/clinvar/97257 ^@ NM_000531.5(OTC):c.586G>A (p.Asp196Asn) http://identifiers.org/clinvar/97258 ^@ NM_000531.5(OTC):c.586G>T (p.Asp196Tyr) http://identifiers.org/clinvar/97259 ^@ NM_000531.5(OTC):c.587A>T (p.Asp196Val) http://identifiers.org/clinvar/97260 ^@ NM_000531.5(OTC):c.589G>A (p.Gly197Arg) http://identifiers.org/clinvar/97261 ^@ NM_000531.5(OTC):c.590G>A (p.Gly197Glu) http://identifiers.org/clinvar/97262 ^@ NM_000531.5(OTC):c.593A>T (p.Asn198Ile) http://identifiers.org/clinvar/97263 ^@ NM_000531.5(OTC):c.594C>A (p.Asn198Lys) http://identifiers.org/clinvar/97264 ^@ NM_000531.5(OTC):c.595A>G (p.Asn199Asp) http://identifiers.org/clinvar/97265 ^@ NM_000531.5(OTC):c.596A>G (p.Asn199Ser) http://identifiers.org/clinvar/97266 ^@ NM_000531.5(OTC):c.602T>C (p.Leu201Pro) http://identifiers.org/clinvar/97267 ^@ NM_000531.5(OTC):c.604C>T (p.His202Tyr) http://identifiers.org/clinvar/97268 ^@ NM_000531.5(OTC):c.605A>C (p.His202Pro) http://identifiers.org/clinvar/97269 ^@ NM_000531.5(OTC):c.608C>G (p.Ser203Cys) http://identifiers.org/clinvar/97270 ^@ NM_000531.5(OTC):c.613A>G (p.Met205Val) http://identifiers.org/clinvar/97271 ^@ NM_000531.5(OTC):c.618G>C (p.Met206Ile) http://identifiers.org/clinvar/97272 ^@ NM_000531.5(OTC):c.620G>A (p.Ser207Asn) http://identifiers.org/clinvar/97273 ^@ NM_000531.5(OTC):c.621C>A (p.Ser207Arg) http://identifiers.org/clinvar/97274 ^@ NM_000531.5(OTC):c.622G>A (p.Ala208Thr) http://identifiers.org/clinvar/97275 ^@ NM_000531.5(OTC):c.626C>T (p.Ala209Val) http://identifiers.org/clinvar/97276 ^@ NM_000531.5(OTC):c.628A>C (p.Lys210Gln) http://identifiers.org/clinvar/97277 ^@ NM_000531.5(OTC):c.640C>T (p.His214Tyr) http://identifiers.org/clinvar/97278 ^@ NM_000531.5(OTC):c.643C>T (p.Leu215Phe) http://identifiers.org/clinvar/97279 ^@ NM_000531.5(OTC):c.645dupT (p.Gln216Serfs) http://identifiers.org/clinvar/97280 ^@ NM_000531.5(OTC):c.650C>A (p.Ala217Glu) http://identifiers.org/clinvar/97281 ^@ NM_000531.5(OTC):c.658C>G (p.Pro220Ala) http://identifiers.org/clinvar/97282 ^@ NM_000531.5(OTC):c.659C>T (p.Pro220Leu) http://identifiers.org/clinvar/97283 ^@ NM_000531.5(OTC):c.663+1G>A http://identifiers.org/clinvar/97284 ^@ NM_000531.5(OTC):c.663+1G>T http://identifiers.org/clinvar/97285 ^@ NM_000531.5(OTC):c.663+2T>C http://identifiers.org/clinvar/97286 ^@ NM_000531.5(OTC):c.663G>A (p.Lys221=) http://identifiers.org/clinvar/97287 ^@ NM_000531.5(OTC):c.663G>C (p.Lys221Asn) http://identifiers.org/clinvar/97288 ^@ NM_000531.5(OTC):c.664-1G>A http://identifiers.org/clinvar/97289 ^@ NM_000531.5(OTC):c.664-1delG http://identifiers.org/clinvar/97290 ^@ NM_000531.5(OTC):c.673C>A (p.Pro225Thr) http://identifiers.org/clinvar/97291 ^@ NM_000531.5(OTC):c.674C>G (p.Pro225Arg) http://identifiers.org/clinvar/97292 ^@ NM_000531.5(OTC):c.67C>T (p.Arg23Ter) http://identifiers.org/clinvar/97293 ^@ NM_000531.5(OTC):c.698C>T (p.Ala233Val) http://identifiers.org/clinvar/97294 ^@ NM_000531.5(OTC):c.700G>T (p.Glu234Ter) http://identifiers.org/clinvar/97295 ^@ NM_000531.5(OTC):c.716A>G (p.Glu239Gly) http://identifiers.org/clinvar/97296 ^@ NM_000531.5(OTC):c.716A>T (p.Glu239Val) http://identifiers.org/clinvar/97297 ^@ NM_000531.5(OTC):c.717+1G>A http://identifiers.org/clinvar/97298 ^@ NM_000531.5(OTC):c.717+1G>T http://identifiers.org/clinvar/97299 ^@ NM_000531.5(OTC):c.717+3A>G http://identifiers.org/clinvar/97300 ^@ NM_000531.5(OTC):c.717+7_717+22delTCTTTACATGTAAAGC http://identifiers.org/clinvar/97301 ^@ NM_000531.5(OTC):c.717G>A (p.Glu239=) http://identifiers.org/clinvar/97302 ^@ NM_000531.5(OTC):c.717G>C (p.Glu239Asp) http://identifiers.org/clinvar/97303 ^@ NM_000531.5(OTC):c.718-2A>G http://identifiers.org/clinvar/97304 ^@ NM_000531.5(OTC):c.718-4_729del16 http://identifiers.org/clinvar/97305 ^@ NM_000531.5(OTC):c.725C>T (p.Thr242Ile) http://identifiers.org/clinvar/97306 ^@ NM_000531.5(OTC):c.731T>A (p.Leu244Gln) http://identifiers.org/clinvar/97307 ^@ NM_000531.5(OTC):c.731_739delTGTTGCTGA (p.Leu244_Thr247delinsPro) http://identifiers.org/clinvar/97308 ^@ NM_000531.5(OTC):c.740C>A (p.Thr247Lys) http://identifiers.org/clinvar/97309 ^@ NM_000531.5(OTC):c.757G>A (p.Ala253Thr) http://identifiers.org/clinvar/97310 ^@ NM_000531.5(OTC):c.757G>C (p.Ala253Pro) http://identifiers.org/clinvar/97311 ^@ NM_000531.5(OTC):c.759delA (p.Ala254Argfs) http://identifiers.org/clinvar/97312 ^@ NM_000531.5(OTC):c.764A>C (p.His255Pro) http://identifiers.org/clinvar/97313 ^@ NM_000531.5(OTC):c.77+1G>A http://identifiers.org/clinvar/97314 ^@ NM_000531.5(OTC):c.77+1G>T http://identifiers.org/clinvar/97315 ^@ NM_000531.5(OTC):c.77+3_77+6delAAGT http://identifiers.org/clinvar/97316 ^@ NM_000531.5(OTC):c.77+4A>C http://identifiers.org/clinvar/97317 ^@ NM_000531.5(OTC):c.77+5G>A http://identifiers.org/clinvar/97318 ^@ NM_000531.5(OTC):c.779T>C (p.Leu260Ser) http://identifiers.org/clinvar/97319 ^@ NM_000531.5(OTC):c.77G>C (p.Arg26Pro) http://identifiers.org/clinvar/97320 ^@ NM_000531.5(OTC):c.78-1G>C http://identifiers.org/clinvar/97321 ^@ NM_000531.5(OTC):c.78-3C>G http://identifiers.org/clinvar/97322 ^@ NM_000531.5(OTC):c.785C>A (p.Thr262Lys) http://identifiers.org/clinvar/97323 ^@ NM_000531.5(OTC):c.785C>T (p.Thr262Ile) http://identifiers.org/clinvar/97324 ^@ NM_000531.5(OTC):c.787G>A (p.Asp263Asn) http://identifiers.org/clinvar/97325 ^@ NM_000531.5(OTC):c.788A>G (p.Asp263Gly) http://identifiers.org/clinvar/97326 ^@ NM_000531.5(OTC):c.790A>G (p.Thr264Ala) http://identifiers.org/clinvar/97327 ^@ NM_000531.5(OTC):c.791C>A (p.Thr264Asn) http://identifiers.org/clinvar/97328 ^@ NM_000531.5(OTC):c.791C>T (p.Thr264Ile) http://identifiers.org/clinvar/97329 ^@ NM_000531.5(OTC):c.793T>C (p.Trp265Arg) http://identifiers.org/clinvar/97330 ^@ NM_000531.5(OTC):c.794G>T (p.Trp265Leu) http://identifiers.org/clinvar/97331 ^@ NM_000531.5(OTC):c.795G>A (p.Trp265Ter) http://identifiers.org/clinvar/97332 ^@ NM_000531.5(OTC):c.799A>C (p.Ser267Arg) http://identifiers.org/clinvar/97333 ^@ NM_000531.5(OTC):c.803T>C (p.Met268Thr) http://identifiers.org/clinvar/97334 ^@ NM_000531.5(OTC):c.806G>A (p.Gly269Glu) http://identifiers.org/clinvar/97335 ^@ NM_000531.5(OTC):c.808C>T (p.Gln270Ter) http://identifiers.org/clinvar/97336 ^@ NM_000531.5(OTC):c.809A>C (p.Gln270Pro) http://identifiers.org/clinvar/97337 ^@ NM_000531.5(OTC):c.817_819delGAG (p.Glu273del) http://identifiers.org/clinvar/97338 ^@ NM_000531.5(OTC):c.818delA (p.Glu273Glyfs) http://identifiers.org/clinvar/97339 ^@ NM_000531.5(OTC):c.830G>A (p.Arg277Gln) http://identifiers.org/clinvar/97340 ^@ NM_000531.5(OTC):c.830G>T (p.Arg277Leu) http://identifiers.org/clinvar/97341 ^@ NM_000531.5(OTC):c.835C>T (p.Gln279Ter) http://identifiers.org/clinvar/97342 ^@ NM_000531.5(OTC):c.867+1G>A http://identifiers.org/clinvar/97343 ^@ NM_000531.5(OTC):c.867+1G>T http://identifiers.org/clinvar/97344 ^@ NM_000531.5(OTC):c.867G>T (p.Lys289Asn) http://identifiers.org/clinvar/97345 ^@ NM_000531.5(OTC):c.875delA (p.Val293Leufs) http://identifiers.org/clinvar/97346 ^@ NM_000531.5(OTC):c.882delT (p.Ala295Profs) http://identifiers.org/clinvar/97347 ^@ NM_000531.5(OTC):c.889_892delGACT (p.Asp297Glyfs) http://identifiers.org/clinvar/97348 ^@ NM_000531.5(OTC):c.892_893delTG (p.Trp298Aspfs) http://identifiers.org/clinvar/97349 ^@ NM_000531.5(OTC):c.893G>C (p.Trp298Ser) http://identifiers.org/clinvar/97350 ^@ NM_000531.5(OTC):c.903A>T (p.Leu301Phe) http://identifiers.org/clinvar/97351 ^@ NM_000531.5(OTC):c.904C>T (p.His302Tyr) http://identifiers.org/clinvar/97352 ^@ NM_000531.5(OTC):c.905A>G (p.His302Arg) http://identifiers.org/clinvar/97353 ^@ NM_000531.5(OTC):c.905A>T (p.His302Leu) http://identifiers.org/clinvar/97354 ^@ NM_000531.5(OTC):c.906C>G (p.His302Gln) http://identifiers.org/clinvar/97355 ^@ NM_000531.5(OTC):c.906delC (p.Cys303Alafs) http://identifiers.org/clinvar/97356 ^@ NM_000531.5(OTC):c.907T>C (p.Cys303Arg) http://identifiers.org/clinvar/97357 ^@ NM_000531.5(OTC):c.907T>G (p.Cys303Gly) http://identifiers.org/clinvar/97358 ^@ NM_000531.5(OTC):c.908G>A (p.Cys303Tyr) http://identifiers.org/clinvar/97359 ^@ NM_000531.5(OTC):c.914C>A (p.Pro305His) http://identifiers.org/clinvar/97360 ^@ NM_000531.5(OTC):c.914C>G (p.Pro305Arg) http://identifiers.org/clinvar/97361 ^@ NM_000531.5(OTC):c.928G>T (p.Glu310Ter) http://identifiers.org/clinvar/97362 ^@ NM_000531.5(OTC):c.929A>G (p.Glu310Gly) http://identifiers.org/clinvar/97363 ^@ NM_000531.5(OTC):c.931G>A (p.Val311Met) http://identifiers.org/clinvar/97364 ^@ NM_000531.5(OTC):c.940_942delGAA (p.Glu314del) http://identifiers.org/clinvar/97365 ^@ NM_000531.5(OTC):c.943G>T (p.Val315Phe) http://identifiers.org/clinvar/97366 ^@ NM_000531.5(OTC):c.944T>A (p.Val315Asp) http://identifiers.org/clinvar/97367 ^@ NM_000531.5(OTC):c.944T>G (p.Val315Gly) http://identifiers.org/clinvar/97368 ^@ NM_000531.5(OTC):c.947T>C (p.Phe316Ser) http://identifiers.org/clinvar/97369 ^@ NM_000531.5(OTC):c.94C>T (p.Gln32Ter) http://identifiers.org/clinvar/97370 ^@ NM_000531.5(OTC):c.953C>T (p.Ser318Phe) http://identifiers.org/clinvar/97371 ^@ NM_000531.5(OTC):c.958C>T (p.Arg320Ter) http://identifiers.org/clinvar/97372 ^@ NM_000531.5(OTC):c.959G>T (p.Arg320Leu) http://identifiers.org/clinvar/97373 ^@ NM_000531.5(OTC):c.962C>A (p.Ser321Ter) http://identifiers.org/clinvar/97374 ^@ NM_000531.5(OTC):c.976G>A (p.Glu326Lys) http://identifiers.org/clinvar/97375 ^@ NM_000531.5(OTC):c.982G>T (p.Glu328Ter) http://identifiers.org/clinvar/97376 ^@ NM_000531.5(OTC):c.988A>G (p.Arg330Gly) http://identifiers.org/clinvar/97377 ^@ NM_000531.5(OTC):c.991A>T (p.Lys331Ter) http://identifiers.org/clinvar/97378 ^@ NM_000531.5(OTC):c.994T>A (p.Trp332Arg) http://identifiers.org/clinvar/97379 ^@ NM_000531.5(OTC):c.995G>A (p.Trp332Ter) http://identifiers.org/clinvar/97380 ^@ NM_000531.5(OTC):c.996G>A (p.Trp332Ter) http://identifiers.org/clinvar/97381 ^@ NM_000348.3(SRD5A2):c.652delT (p.Phe219Serfs) http://identifiers.org/clinvar/97382 ^@ NM_000348.3(SRD5A2):c.-650A>C http://identifiers.org/clinvar/97383 ^@ NM_000348.3(SRD5A2):c.-648A>T http://identifiers.org/clinvar/97384 ^@ NM_000348.3(SRD5A2):c.-383G>A http://identifiers.org/clinvar/97385 ^@ NM_000348.3(SRD5A2):c.-215C>A http://identifiers.org/clinvar/97386 ^@ NM_000348.3(SRD5A2):c.-62G>C http://identifiers.org/clinvar/97387 ^@ NM_000348.3(SRD5A2):c.-2C>A http://identifiers.org/clinvar/97388 ^@ NM_000348.3(SRD5A2):c.13T>C (p.Cys5Arg) http://identifiers.org/clinvar/97389 ^@ NM_000348.3(SRD5A2):c.89_90insT (p.Ser31Leufs) http://identifiers.org/clinvar/97390 ^@ NM_000348.3(SRD5A2):c.143C>G (p.Pro48Arg) http://identifiers.org/clinvar/97391 ^@ NM_000348.3(SRD5A2):c.151G>A (p.Ala51Thr) http://identifiers.org/clinvar/97392 ^@ NM_000348.3(SRD5A2):c.162C>T (p.Phe54=) http://identifiers.org/clinvar/97393 ^@ NM_000348.3(SRD5A2):c.445+8A>C http://identifiers.org/clinvar/97394 ^@ NM_000348.3(SRD5A2):c.183C>T (p.Phe61=) http://identifiers.org/clinvar/97395 ^@ NM_000348.3(SRD5A2):c.207C>T (p.Ala69=) http://identifiers.org/clinvar/97396 ^@ NM_000348.3(SRD5A2):c.209G>A (p.Arg70Gln) http://identifiers.org/clinvar/97397 ^@ NM_000348.3(SRD5A2):c.210G>A (p.Arg70=) http://identifiers.org/clinvar/97398 ^@ NM_000348.3(SRD5A2):c.214C>T (p.Pro72Ser) http://identifiers.org/clinvar/97399 ^@ NM_000348.3(SRD5A2):c.258C>G (p.Leu86=) http://identifiers.org/clinvar/97400 ^@ NM_000348.3(SRD5A2):c.265C>G (p.Leu89Val) http://identifiers.org/clinvar/97401 ^@ NM_000348.3(SRD5A2):c.273C>T (p.Tyr91=) http://identifiers.org/clinvar/97402 ^@ NM_000348.3(SRD5A2):c.281+13C>G http://identifiers.org/clinvar/97403 ^@ NM_000348.3(SRD5A2):c.281+15T>C http://identifiers.org/clinvar/97404 ^@ NM_000348.3(SRD5A2):c.281+20G>A http://identifiers.org/clinvar/97405 ^@ NM_000348.3(SRD5A2):c.281+23G>T http://identifiers.org/clinvar/97406 ^@ NM_000348.3(SRD5A2):c.281+37A>C http://identifiers.org/clinvar/97407 ^@ NM_000348.3(SRD5A2):c.446-43A>T http://identifiers.org/clinvar/97408 ^@ NM_000348.3(SRD5A2):c.548-2A>C http://identifiers.org/clinvar/97409 ^@ NM_000348.3(SRD5A2):c.550G>C (p.Gly184Arg) http://identifiers.org/clinvar/97410 ^@ NM_000348.3(SRD5A2):c.560C>T (p.Thr187Met) http://identifiers.org/clinvar/97411 ^@ NM_000348.3(SRD5A2):c.582C>G (p.Phe194Leu) http://identifiers.org/clinvar/97412 ^@ NM_000348.3(SRD5A2):c.585C>T (p.Leu195=) http://identifiers.org/clinvar/97413 ^@ NM_000348.3(SRD5A2):c.696T>C (p.His232=) http://identifiers.org/clinvar/97414 ^@ NM_000348.3(SRD5A2):c.702C>G (p.Phe234Leu) http://identifiers.org/clinvar/97415 ^@ NM_000348.3(SRD5A2):c.*259T>C http://identifiers.org/clinvar/97416 ^@ NM_000348.3(SRD5A2):c.*821A>T http://identifiers.org/clinvar/97417 ^@ NM_000348.3(SRD5A2):c.*849A>G http://identifiers.org/clinvar/97418 ^@ NM_000348.3(SRD5A2):c.*1356A>C http://identifiers.org/clinvar/97419 ^@ NM_000348.3(SRD5A2):c.*1552G>A http://identifiers.org/clinvar/97420 ^@ NM_000348.3(SRD5A2):c.*1843A>G http://identifiers.org/clinvar/97421 ^@ NM_001065.3(TNFRSF1A):c.-281-278G>A http://identifiers.org/clinvar/97422 ^@ NM_001065.3(TNFRSF1A):c.1075C>T (p.Leu359=) http://identifiers.org/clinvar/97423 ^@ NM_001065.3(TNFRSF1A):c.39+97G>A http://identifiers.org/clinvar/97424 ^@ NM_001065.3(TNFRSF1A):c.40-981C>T http://identifiers.org/clinvar/97425 ^@ NM_000243.2(MEFV):c.*12T>C http://identifiers.org/clinvar/97426 ^@ NM_000243.2(MEFV):c.*21C>G http://identifiers.org/clinvar/97427 ^@ NM_000243.2(MEFV):c.-12C>G http://identifiers.org/clinvar/97428 ^@ NM_000243.2(MEFV):c.1043G>A (p.Arg348His) http://identifiers.org/clinvar/97429 ^@ NM_000243.2(MEFV):c.1056C>T (p.Cys352=) http://identifiers.org/clinvar/97430 ^@ NM_000243.2(MEFV):c.1060C>T (p.Arg354Trp) http://identifiers.org/clinvar/97431 ^@ NM_000243.2(MEFV):c.1089C>T (p.Ser363=) http://identifiers.org/clinvar/97432 ^@ NM_000243.2(MEFV):c.1091C>T (p.Pro364Leu) http://identifiers.org/clinvar/97433 ^@ NM_000243.2(MEFV):c.1147C>A (p.Gln383Lys) http://identifiers.org/clinvar/97434 ^@ NM_000243.2(MEFV):c.1179C>T (p.Pro393=) http://identifiers.org/clinvar/97435 ^@ NM_000243.2(MEFV):c.1245C>T (p.Val415=) http://identifiers.org/clinvar/97436 ^@ NM_000243.2(MEFV):c.1260+18G>C http://identifiers.org/clinvar/97437 ^@ NM_000243.2(MEFV):c.1260+92G>A http://identifiers.org/clinvar/97438 ^@ NM_000243.2(MEFV):c.1261-11T>G http://identifiers.org/clinvar/97439 ^@ NM_000243.2(MEFV):c.1261-28A>G http://identifiers.org/clinvar/97440 ^@ NM_000243.2(MEFV):c.1267A>G (p.Ile423Val) http://identifiers.org/clinvar/97441 ^@ NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) http://identifiers.org/clinvar/97442 ^@ NM_000243.2(MEFV):c.1405G>T (p.Val469Leu) http://identifiers.org/clinvar/97443 ^@ NM_000243.2(MEFV):c.1413C>A (p.Tyr471Ter) http://identifiers.org/clinvar/97444 ^@ NM_000243.2(MEFV):c.1420G>A (p.Glu474Lys) http://identifiers.org/clinvar/97445 ^@ NM_000243.2(MEFV):c.1459G>A (p.Val487Met) http://identifiers.org/clinvar/97446 ^@ NM_000243.2(MEFV):c.1467G>A (p.Gln489=) http://identifiers.org/clinvar/97447 ^@ NM_000243.2(MEFV):c.1501C>G (p.Arg501Gly) http://identifiers.org/clinvar/97448 ^@ NM_000243.2(MEFV):c.1502G>A (p.Arg501His) http://identifiers.org/clinvar/97449 ^@ NM_000243.2(MEFV):c.1516A>G (p.Ile506Val) http://identifiers.org/clinvar/97450 ^@ NM_000243.2(MEFV):c.1538T>C (p.Ile513Thr) http://identifiers.org/clinvar/97451 ^@ NM_000243.2(MEFV):c.1541G>A (p.Gly514Glu) http://identifiers.org/clinvar/97452 ^@ NM_000243.2(MEFV):c.1587+29G>T http://identifiers.org/clinvar/97453 ^@ NM_000243.2(MEFV):c.1675C>T (p.Leu559Phe) http://identifiers.org/clinvar/97454 ^@ NM_000243.2(MEFV):c.1727-58T>C http://identifiers.org/clinvar/97455 ^@ NM_000243.2(MEFV):c.1729A>T (p.Thr577Ser) http://identifiers.org/clinvar/97456 ^@ NM_000243.2(MEFV):c.1744A>C (p.Met582Leu) http://identifiers.org/clinvar/97457 ^@ NM_000243.2(MEFV):c.1760-28T>A http://identifiers.org/clinvar/97458 ^@ NM_000243.2(MEFV):c.1760-4G>A http://identifiers.org/clinvar/97459 ^@ NM_000243.2(MEFV):c.1776C>T (p.Gly592=) http://identifiers.org/clinvar/97460 ^@ NM_000243.2(MEFV):c.1784C>T (p.Ala595Val) http://identifiers.org/clinvar/97461 ^@ NM_000243.2(MEFV):c.1792+39G>A http://identifiers.org/clinvar/97462 ^@ NM_000243.2(MEFV):c.1792+57C>T http://identifiers.org/clinvar/97463 ^@ NM_000243.2(MEFV):c.1793-14A>G http://identifiers.org/clinvar/97464 ^@ NM_000243.2(MEFV):c.1795A>G (p.Asn599Asp) http://identifiers.org/clinvar/97465 ^@ NM_000243.2(MEFV):c.1818C>T (p.Thr606=) http://identifiers.org/clinvar/97466 ^@ NM_000243.2(MEFV):c.1827C>G (p.Pro609=) http://identifiers.org/clinvar/97467 ^@ NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) http://identifiers.org/clinvar/97468 ^@ NM_000243.2(MEFV):c.1920C>G (p.Ile640Met) http://identifiers.org/clinvar/97469 ^@ NM_000243.2(MEFV):c.1921A>T (p.Ile641Phe) http://identifiers.org/clinvar/97470 ^@ NM_000243.2(MEFV):c.1937C>T (p.Pro646Leu) http://identifiers.org/clinvar/97471 ^@ NM_000243.2(MEFV):c.1938G>A (p.Pro646=) http://identifiers.org/clinvar/97472 ^@ NM_000243.2(MEFV):c.1946T>C (p.Leu649Pro) http://identifiers.org/clinvar/97473 ^@ NM_000243.2(MEFV):c.1956C>A (p.Arg652=) http://identifiers.org/clinvar/97474 ^@ NM_000243.2(MEFV):c.195C>T (p.Tyr65=) http://identifiers.org/clinvar/97475 ^@ NM_000243.2(MEFV):c.1967A>C (p.Glu656Ala) http://identifiers.org/clinvar/97476 ^@ NM_000243.2(MEFV):c.1975G>T (p.Val659Phe) http://identifiers.org/clinvar/97477 ^@ NM_000243.2(MEFV):c.1981G>A (p.Asp661Asn) http://identifiers.org/clinvar/97478 ^@ NM_000243.2(MEFV):c.2024G>A (p.Ser675Asn) http://identifiers.org/clinvar/97479 ^@ NM_000243.2(MEFV):c.2033G>A (p.Gly678Glu) http://identifiers.org/clinvar/97480 ^@ NM_000243.2(MEFV):c.2038A>C (p.Met680Leu) http://identifiers.org/clinvar/97481 ^@ NM_000243.2(MEFV):c.2042C>T (p.Thr681Ile) http://identifiers.org/clinvar/97482 ^@ NM_000243.2(MEFV):c.2049G>A (p.Ser683=) http://identifiers.org/clinvar/97483 ^@ NM_000243.2(MEFV):c.2063A>G (p.Tyr688Cys) http://identifiers.org/clinvar/97484 ^@ NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) http://identifiers.org/clinvar/97485 ^@ NM_000243.2(MEFV):c.2076_2078delAAT (p.Ile692del) http://identifiers.org/clinvar/97486 ^@ NM_000243.2(MEFV):c.2079G>C (p.Met693Ile) http://identifiers.org/clinvar/97487 ^@ NM_000243.2(MEFV):c.2080A>T (p.Met694Leu) http://identifiers.org/clinvar/97489 ^@ NM_000243.2(MEFV):c.2084A>T (p.Lys695Met) http://identifiers.org/clinvar/97490 ^@ NM_000243.2(MEFV):c.2085G>C (p.Lys695Asn) http://identifiers.org/clinvar/97491 ^@ NM_000243.2(MEFV):c.2103G>A (p.Ala701=) http://identifiers.org/clinvar/97492 ^@ NM_000243.2(MEFV):c.2105C>G (p.Ser702Cys) http://identifiers.org/clinvar/97493 ^@ NM_000243.2(MEFV):c.2109C>T (p.Ser703=) http://identifiers.org/clinvar/97494 ^@ NM_000243.2(MEFV):c.2110G>A (p.Val704Ile) http://identifiers.org/clinvar/97495 ^@ NM_000243.2(MEFV):c.2113C>T (p.Pro705Ser) http://identifiers.org/clinvar/97496 ^@ NM_000243.2(MEFV):c.2122C>T (p.Arg708Cys) http://identifiers.org/clinvar/97497 ^@ NM_000243.2(MEFV):c.2126T>G (p.Leu709Arg) http://identifiers.org/clinvar/97498 ^@ NM_000243.2(MEFV):c.2149C>A (p.Arg717Ser) http://identifiers.org/clinvar/97499 ^@ NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) http://identifiers.org/clinvar/97500 ^@ NM_000243.2(MEFV):c.2164G>A (p.Val722Met) http://identifiers.org/clinvar/97501 ^@ NM_000243.2(MEFV):c.2169C>T (p.Asp723=) http://identifiers.org/clinvar/97502 ^@ NM_000243.2(MEFV):c.2228T>A (p.Phe743Tyr) http://identifiers.org/clinvar/97503 ^@ NM_000243.2(MEFV):c.2229C>G (p.Phe743Leu) http://identifiers.org/clinvar/97504 ^@ NM_000243.2(MEFV):c.2229C>T (p.Phe743=) http://identifiers.org/clinvar/97505 ^@ NM_000243.2(MEFV):c.2246C>G (p.Ser749Cys) http://identifiers.org/clinvar/97506 ^@ NM_000243.2(MEFV):c.2259A>G (p.Gln753=) http://identifiers.org/clinvar/97507 ^@ NM_000243.2(MEFV):c.2263A>G (p.Ile755Val) http://identifiers.org/clinvar/97508 ^@ NM_000243.2(MEFV):c.2272C>T (p.Pro758Ser) http://identifiers.org/clinvar/97509 ^@ NM_000243.2(MEFV):c.2314A>G (p.Ile772Val) http://identifiers.org/clinvar/97510 ^@ NM_000243.2(MEFV):c.2337G>C (p.Gly779=) http://identifiers.org/clinvar/97511 ^@ NM_000243.2(MEFV):c.2338C>A (p.Pro780Thr) http://identifiers.org/clinvar/97512 ^@ NM_000243.2(MEFV):c.25C>T (p.Leu9=) http://identifiers.org/clinvar/97513 ^@ NM_000243.2(MEFV):c.265G>A (p.Ala89Thr) http://identifiers.org/clinvar/97514 ^@ NM_000243.2(MEFV):c.297C>T (p.Asn99=) http://identifiers.org/clinvar/97515 ^@ NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) http://identifiers.org/clinvar/97516 ^@ NM_000243.2(MEFV):c.330G>A (p.Leu110=) http://identifiers.org/clinvar/97517 ^@ NM_000243.2(MEFV):c.333G>A (p.Gly111=) http://identifiers.org/clinvar/97518 ^@ NM_000243.2(MEFV):c.334dupG (p.Glu112Glyfs) http://identifiers.org/clinvar/97519 ^@ NM_000243.2(MEFV):c.372C>T (p.Pro124=) http://identifiers.org/clinvar/97520 ^@ NM_000243.2(MEFV):c.375G>A (p.Glu125=) http://identifiers.org/clinvar/97521 ^@ NM_000243.2(MEFV):c.382_390dupGAGGGGAAC (p.Asn130_Gly131insGluGlyAsn) http://identifiers.org/clinvar/97522 ^@ NM_000243.2(MEFV):c.422G>T (p.Ser141Ile) http://identifiers.org/clinvar/97523 ^@ NM_000243.2(MEFV):c.428G>C (p.Arg143Pro) http://identifiers.org/clinvar/97524 ^@ NM_000243.2(MEFV):c.453G>C (p.Arg151Ser) http://identifiers.org/clinvar/97525 ^@ NM_000243.2(MEFV):c.488A>C (p.Glu163Ala) http://identifiers.org/clinvar/97526 ^@ NM_000243.2(MEFV):c.515A>C (p.Gln172Pro) http://identifiers.org/clinvar/97527 ^@ NM_000243.2(MEFV):c.524C>A (p.Pro175His) http://identifiers.org/clinvar/97528 ^@ NM_000243.2(MEFV):c.530C>T (p.Thr177Ile) http://identifiers.org/clinvar/97529 ^@ NM_000243.2(MEFV):c.536G>T (p.Ser179Ile) http://identifiers.org/clinvar/97530 ^@ NM_000243.2(MEFV):c.539C>G (p.Pro180Arg) http://identifiers.org/clinvar/97531 ^@ NM_000243.2(MEFV):c.540G>C (p.Pro180=) http://identifiers.org/clinvar/97532 ^@ NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) http://identifiers.org/clinvar/97533 ^@ NM_000243.2(MEFV):c.606_621dup16 (p.Ser208Alafs) http://identifiers.org/clinvar/97534 ^@ NM_000243.2(MEFV):c.657C>T (p.Gly219=) http://identifiers.org/clinvar/97535 ^@ NM_000243.2(MEFV):c.663G>C (p.Pro221=) http://identifiers.org/clinvar/97536 ^@ NM_000243.2(MEFV):c.675G>C (p.Glu225Asp) http://identifiers.org/clinvar/97537 ^@ NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) http://identifiers.org/clinvar/97538 ^@ NM_000243.2(MEFV):c.694T>C (p.Tyr232His) http://identifiers.org/clinvar/97539 ^@ NM_000243.2(MEFV):c.707G>T (p.Gly236Val) http://identifiers.org/clinvar/97540 ^@ NM_000243.2(MEFV):c.726C>A (p.Ser242Arg) http://identifiers.org/clinvar/97541 ^@ NM_000243.2(MEFV):c.726C>G (p.Ser242Arg) http://identifiers.org/clinvar/97542 ^@ NM_000243.2(MEFV):c.726C>T (p.Ser242=) http://identifiers.org/clinvar/97543 ^@ NM_000243.2(MEFV):c.751G>A (p.Glu251Lys) http://identifiers.org/clinvar/97544 ^@ NM_000243.2(MEFV):c.761_764dupCCGC (p.Asn256Argfs) http://identifiers.org/clinvar/97545 ^@ NM_000243.2(MEFV):c.775A>G (p.Ile259Val) http://identifiers.org/clinvar/97546 ^@ NM_000243.2(MEFV):c.803C>T (p.Ala268Val) http://identifiers.org/clinvar/97547 ^@ NM_000243.2(MEFV):c.833G>C (p.Arg278Pro) http://identifiers.org/clinvar/97548 ^@ NM_000243.2(MEFV):c.848C>G (p.Pro283Arg) http://identifiers.org/clinvar/97549 ^@ NM_000243.2(MEFV):c.848C>T (p.Pro283Leu) http://identifiers.org/clinvar/97550 ^@ NM_000243.2(MEFV):c.866C>T (p.Ala289Val) http://identifiers.org/clinvar/97551 ^@ NM_000243.2(MEFV):c.896A>G (p.Glu299Gly) http://identifiers.org/clinvar/97552 ^@ NM_000243.2(MEFV):c.911-22T>G http://identifiers.org/clinvar/97553 ^@ NM_000243.2(MEFV):c.911-78T>C http://identifiers.org/clinvar/97554 ^@ NM_000243.2(MEFV):c.926C>T (p.Thr309Met) http://identifiers.org/clinvar/97555 ^@ NM_000243.2(MEFV):c.955G>A (p.Glu319Lys) http://identifiers.org/clinvar/97556 ^@ NM_000243.2(MEFV):c.983T>C (p.Val328Ala) http://identifiers.org/clinvar/97557 ^@ NM_000243.2(MEFV):c.986G>A (p.Arg329His) http://identifiers.org/clinvar/97558 ^@ NM_000431.3(MVK):c.*11C>T http://identifiers.org/clinvar/97559 ^@ NM_000431.3(MVK):c.-14_78del92 http://identifiers.org/clinvar/97560 ^@ NM_000431.3(MVK):c.1005C>T (p.Gly335=) http://identifiers.org/clinvar/97561 ^@ NM_000431.3(MVK):c.1006G>A (p.Gly336Ser) http://identifiers.org/clinvar/97562 ^@ NM_000431.3(MVK):c.1039+1G>T http://identifiers.org/clinvar/97563 ^@ NM_000431.3(MVK):c.104T>C (p.Leu35Ser) http://identifiers.org/clinvar/97564 ^@ NM_000431.3(MVK):c.1067C>T (p.Thr356Met) http://identifiers.org/clinvar/97565 ^@ NM_000431.3(MVK):c.1095_1098delTGAC (p.Asp366Alafs) http://identifiers.org/clinvar/97566 ^@ NM_000431.3(MVK):c.1100G>C (p.Cys367Ser) http://identifiers.org/clinvar/97567 ^@ NM_000431.3(MVK):c.1127G>T (p.Gly376Val) http://identifiers.org/clinvar/97568 ^@ NM_000431.3(MVK):c.1132T>C (p.Ser378Pro) http://identifiers.org/clinvar/97569 ^@ NM_000431.3(MVK):c.1139A>G (p.His380Arg) http://identifiers.org/clinvar/97570 ^@ NM_000431.3(MVK):c.1151C>T (p.Ser384Phe) http://identifiers.org/clinvar/97571 ^@ NM_000431.3(MVK):c.1156G>A (p.Asp386Asn) http://identifiers.org/clinvar/97572 ^@ NM_000431.3(MVK):c.1162C>T (p.Arg388Ter) http://identifiers.org/clinvar/97573 ^@ NM_000431.3(MVK):c.116T>C (p.Leu39Pro) http://identifiers.org/clinvar/97574 ^@ NM_000431.3(MVK):c.129_130delCC (p.His44Glnfs) http://identifiers.org/clinvar/97576 ^@ NM_000431.3(MVK):c.185G>A (p.Trp62Ter) http://identifiers.org/clinvar/97577 ^@ NM_000431.3(MVK):c.22G>C (p.Val8Leu) http://identifiers.org/clinvar/97578 ^@ NM_000431.3(MVK):c.238G>A (p.Val80Ile) http://identifiers.org/clinvar/97579 ^@ NM_000431.3(MVK):c.277_283delGAGGTTG (p.Glu93Glnfs) http://identifiers.org/clinvar/97580 ^@ NM_000431.3(MVK):c.340_344delTACTT (p.Tyr114Ilefs) http://identifiers.org/clinvar/97581 ^@ NM_000431.3(MVK):c.346T>C (p.Tyr116His) http://identifiers.org/clinvar/97582 ^@ NM_000431.3(MVK):c.357C>G (p.Ile119Met) http://identifiers.org/clinvar/97583 ^@ NM_000431.3(MVK):c.372-3C>T http://identifiers.org/clinvar/97584 ^@ NM_000431.3(MVK):c.372_527del156 (p.Ala125_Arg176del) http://identifiers.org/clinvar/97585 ^@ NM_000431.3(MVK):c.37A>T (p.Lys13Ter) http://identifiers.org/clinvar/97586 ^@ NM_000431.3(MVK):c.394G>A (p.Val132Ile) http://identifiers.org/clinvar/97587 ^@ NM_000431.3(MVK):c.404C>T (p.Ser135Leu) http://identifiers.org/clinvar/97589 ^@ NM_000431.3(MVK):c.421delG (p.Ala141Argfs) http://identifiers.org/clinvar/97591 ^@ NM_000431.3(MVK):c.439G>A (p.Ala147Thr) http://identifiers.org/clinvar/97592 ^@ NM_000431.3(MVK):c.442G>A (p.Ala148Thr) http://identifiers.org/clinvar/97593 ^@ NM_000431.3(MVK):c.447C>G (p.Tyr149Ter) http://identifiers.org/clinvar/97594 ^@ NM_000431.3(MVK):c.503_512delTGAAGGACGGinsAC (p.Leu168Hisfs) http://identifiers.org/clinvar/97595 ^@ NM_000431.3(MVK):c.511G>A (p.Gly171Arg) http://identifiers.org/clinvar/97596 ^@ NM_000431.3(MVK):c.516T>C (p.Asp172=) http://identifiers.org/clinvar/97597 ^@ NM_000431.3(MVK):c.564G>A (p.Trp188Ter) http://identifiers.org/clinvar/97598 ^@ NM_000431.3(MVK):c.571delC (p.Gln191Lysfs) http://identifiers.org/clinvar/97599 ^@ NM_000431.3(MVK):c.591C>T (p.His197=) http://identifiers.org/clinvar/97600 ^@ NM_000431.3(MVK):c.607dupG (p.Val203Glyfs) http://identifiers.org/clinvar/97601 ^@ NM_000431.3(MVK):c.608T>C (p.Val203Ala) http://identifiers.org/clinvar/97602 ^@ NM_000431.3(MVK):c.60T>A (p.His20Gln) http://identifiers.org/clinvar/97603 ^@ NM_000431.3(MVK):c.613A>G (p.Asn205Asp) http://identifiers.org/clinvar/97604 ^@ NM_000431.3(MVK):c.625A>G (p.Thr209Ala) http://identifiers.org/clinvar/97605 ^@ NM_000431.3(MVK):c.632-71A>G http://identifiers.org/clinvar/97606 ^@ NM_000431.3(MVK):c.632G>A (p.Gly211Glu) http://identifiers.org/clinvar/97607 ^@ NM_000431.3(MVK):c.632G>C (p.Gly211Ala) http://identifiers.org/clinvar/97608 ^@ NM_000431.3(MVK):c.644G>A (p.Arg215Gln) http://identifiers.org/clinvar/97609 ^@ NM_000431.3(MVK):c.678-1G>C http://identifiers.org/clinvar/97610 ^@ NM_000431.3(MVK):c.684A>G (p.Pro228=) http://identifiers.org/clinvar/97611 ^@ NM_000431.3(MVK):c.701T>C (p.Leu234Pro) http://identifiers.org/clinvar/97612 ^@ NM_000431.3(MVK):c.709A>T (p.Thr237Ser) http://identifiers.org/clinvar/97613 ^@ NM_000431.3(MVK):c.728C>T (p.Thr243Ile) http://identifiers.org/clinvar/97615 ^@ NM_000431.3(MVK):c.737T>C (p.Leu246Pro) http://identifiers.org/clinvar/97616 ^@ NM_000431.3(MVK):c.748G>A (p.Val250Ile) http://identifiers.org/clinvar/97617 ^@ NM_000431.3(MVK):c.75C>T (p.Gly25=) http://identifiers.org/clinvar/97618 ^@ NM_000431.3(MVK):c.768+23G>C http://identifiers.org/clinvar/97619 ^@ NM_000431.3(MVK):c.769-103C>T http://identifiers.org/clinvar/97620 ^@ NM_000431.3(MVK):c.769-7T>G http://identifiers.org/clinvar/97621 ^@ NM_000431.3(MVK):c.769-7dup http://identifiers.org/clinvar/97622 ^@ NM_000431.3(MVK):c.78+177G>A http://identifiers.org/clinvar/97623 ^@ NM_000431.3(MVK):c.78+2delT http://identifiers.org/clinvar/97624 ^@ NM_000431.3(MVK):c.79-62G>A http://identifiers.org/clinvar/97625 ^@ NM_000431.3(MVK):c.790C>T (p.Leu264Phe) http://identifiers.org/clinvar/97626 ^@ NM_000431.3(MVK):c.794T>C (p.Leu265Pro) http://identifiers.org/clinvar/97627 ^@ NM_000431.3(MVK):c.794T>G (p.Leu265Arg) http://identifiers.org/clinvar/97628 ^@ NM_000431.3(MVK):c.79_226del148 (p.Val27Serfs) http://identifiers.org/clinvar/97629 ^@ NM_000431.3(MVK):c.815C>T (p.Ser272Phe) http://identifiers.org/clinvar/97630 ^@ NM_000431.3(MVK):c.829C>T (p.Arg277Cys) http://identifiers.org/clinvar/97631 ^@ NM_000431.3(MVK):c.830G>A (p.Arg277His) http://identifiers.org/clinvar/97632 ^@ NM_000431.3(MVK):c.831C>T (p.Arg277=) http://identifiers.org/clinvar/97633 ^@ NM_000431.3(MVK):c.857C>T (p.Pro286Leu) http://identifiers.org/clinvar/97634 ^@ NM_000431.3(MVK):c.863C>T (p.Pro288Leu) http://identifiers.org/clinvar/97635 ^@ NM_000431.3(MVK):c.86delT (p.Leu29Argfs) http://identifiers.org/clinvar/97636 ^@ NM_000431.3(MVK):c.877G>A (p.Val293Met) http://identifiers.org/clinvar/97637 ^@ NM_000431.3(MVK):c.925G>A (p.Gly309Ser) http://identifiers.org/clinvar/97638 ^@ NM_000431.3(MVK):c.965C>G (p.Thr322Ser) http://identifiers.org/clinvar/97639 ^@ NM_000431.3(MVK):c.976G>A (p.Gly326Arg) http://identifiers.org/clinvar/97640 ^@ NM_000431.3(MVK):c.986G>A (p.Ser329Asn) http://identifiers.org/clinvar/97641 ^@ NM_000431.3(MVK):c.987C>A (p.Ser329Arg) http://identifiers.org/clinvar/97642 ^@ NM_001065.3(TNFRSF1A):c.1080C>G (p.Tyr360Ter) http://identifiers.org/clinvar/97643 ^@ NM_001065.3(TNFRSF1A):c.123T>G (p.Asp41Glu) http://identifiers.org/clinvar/97644 ^@ NM_001065.3(TNFRSF1A):c.145T>C (p.Tyr49His) http://identifiers.org/clinvar/97645 ^@ NM_001065.3(TNFRSF1A):c.145T>G (p.Tyr49Asp) http://identifiers.org/clinvar/97646 ^@ NM_001065.3(TNFRSF1A):c.151C>T (p.His51Tyr) http://identifiers.org/clinvar/97647 ^@ NM_001065.3(TNFRSF1A):c.152A>G (p.His51Arg) http://identifiers.org/clinvar/97648 ^@ NM_001065.3(TNFRSF1A):c.153C>G (p.His51Gln) http://identifiers.org/clinvar/97649 ^@ NM_001065.3(TNFRSF1A):c.168G>A (p.Ser56=) http://identifiers.org/clinvar/97650 ^@ NM_001065.3(TNFRSF1A):c.173G>A (p.Cys58Tyr) http://identifiers.org/clinvar/97651 ^@ NM_001065.3(TNFRSF1A):c.173G>T (p.Cys58Phe) http://identifiers.org/clinvar/97652 ^@ NM_001065.3(TNFRSF1A):c.176G>A (p.Cys59Tyr) http://identifiers.org/clinvar/97653 ^@ NM_001065.3(TNFRSF1A):c.176G>T (p.Cys59Phe) http://identifiers.org/clinvar/97654 ^@ NM_001065.3(TNFRSF1A):c.194-14G>A http://identifiers.org/clinvar/97655 ^@ NM_001065.3(TNFRSF1A):c.194-15C>T http://identifiers.org/clinvar/97656 ^@ NM_001065.3(TNFRSF1A):c.194-18_194-17delCT http://identifiers.org/clinvar/97657 ^@ NM_001065.3(TNFRSF1A):c.194G>A (p.Gly65Glu) http://identifiers.org/clinvar/97658 ^@ NM_001065.3(TNFRSF1A):c.197C>T (p.Thr66Ile) http://identifiers.org/clinvar/97659 ^@ NM_001065.3(TNFRSF1A):c.200A>C (p.Tyr67Ser) http://identifiers.org/clinvar/97660 ^@ NM_001065.3(TNFRSF1A):c.200A>G (p.Tyr67Cys) http://identifiers.org/clinvar/97661 ^@ NM_001065.3(TNFRSF1A):c.204G>C (p.Leu68Phe) http://identifiers.org/clinvar/97662 ^@ NM_001065.3(TNFRSF1A):c.211_213delGAC (p.Asp71del) http://identifiers.org/clinvar/97663 ^@ NM_001065.3(TNFRSF1A):c.214T>C (p.Cys72Arg) http://identifiers.org/clinvar/97664 ^@ NM_001065.3(TNFRSF1A):c.215G>A (p.Cys72Tyr) http://identifiers.org/clinvar/97665 ^@ NM_001065.3(TNFRSF1A):c.215G>C (p.Cys72Ser) http://identifiers.org/clinvar/97666 ^@ NM_001065.3(TNFRSF1A):c.228G>A (p.Gly76=) http://identifiers.org/clinvar/97667 ^@ NM_001065.3(TNFRSF1A):c.236C>A (p.Thr79Lys) http://identifiers.org/clinvar/97668 ^@ NM_001065.3(TNFRSF1A):c.241T>C (p.Cys81Arg) http://identifiers.org/clinvar/97669 ^@ NM_001065.3(TNFRSF1A):c.242G>A (p.Cys81Tyr) http://identifiers.org/clinvar/97670 ^@ NM_001065.3(TNFRSF1A):c.243C>G (p.Cys81Trp) http://identifiers.org/clinvar/97671 ^@ NM_001065.3(TNFRSF1A):c.249G>A (p.Glu83=) http://identifiers.org/clinvar/97672 ^@ NM_001065.3(TNFRSF1A):c.250T>C (p.Cys84Arg) http://identifiers.org/clinvar/97673 ^@ NM_001065.3(TNFRSF1A):c.251G>A (p.Cys84Tyr) http://identifiers.org/clinvar/97674 ^@ NM_001065.3(TNFRSF1A):c.251G>C (p.Cys84Ser) http://identifiers.org/clinvar/97675 ^@ NM_001065.3(TNFRSF1A):c.262T>C (p.Ser88Pro) http://identifiers.org/clinvar/97676 ^@ NM_001065.3(TNFRSF1A):c.265T>C (p.Phe89Leu) http://identifiers.org/clinvar/97677 ^@ NM_001065.3(TNFRSF1A):c.265T>G (p.Phe89Val) http://identifiers.org/clinvar/97678 ^@ NM_001065.3(TNFRSF1A):c.266T>C (p.Phe89Ser) http://identifiers.org/clinvar/97679 ^@ NM_001065.3(TNFRSF1A):c.267C>A (p.Phe89Leu) http://identifiers.org/clinvar/97680 ^@ NM_001065.3(TNFRSF1A):c.269C>A (p.Thr90Asn) http://identifiers.org/clinvar/97681 ^@ NM_001065.3(TNFRSF1A):c.281A>T (p.Asn94Ile) http://identifiers.org/clinvar/97682 ^@ NM_001065.3(TNFRSF1A):c.283C>T (p.His95Tyr) http://identifiers.org/clinvar/97683 ^@ NM_001065.3(TNFRSF1A):c.284A>T (p.His95Leu) http://identifiers.org/clinvar/97684 ^@ NM_001065.3(TNFRSF1A):c.287T>C (p.Leu96Pro) http://identifiers.org/clinvar/97685 ^@ NM_001065.3(TNFRSF1A):c.293_295delACT (p.His98_Cys99delinsArg) http://identifiers.org/clinvar/97686 ^@ NM_001065.3(TNFRSF1A):c.295T>C (p.Cys99Arg) http://identifiers.org/clinvar/97687 ^@ NM_001065.3(TNFRSF1A):c.295T>G (p.Cys99Gly) http://identifiers.org/clinvar/97688 ^@ NM_001065.3(TNFRSF1A):c.296G>A (p.Cys99Tyr) http://identifiers.org/clinvar/97689 ^@ NM_001065.3(TNFRSF1A):c.304T>C (p.Cys102Arg) http://identifiers.org/clinvar/97690 ^@ NM_001065.3(TNFRSF1A):c.306C>G (p.Cys102Trp) http://identifiers.org/clinvar/97691 ^@ NM_001065.3(TNFRSF1A):c.308C>G (p.Ser103Cys) http://identifiers.org/clinvar/97692 ^@ NM_001065.3(TNFRSF1A):c.323-32A>G http://identifiers.org/clinvar/97693 ^@ NM_001065.3(TNFRSF1A):c.343T>C (p.Ser115Pro) http://identifiers.org/clinvar/97694 ^@ NM_001065.3(TNFRSF1A):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/97695 ^@ NM_001065.3(TNFRSF1A):c.369C>T (p.Thr123=) http://identifiers.org/clinvar/97696 ^@ NM_001065.3(TNFRSF1A):c.370G>A (p.Val124Met) http://identifiers.org/clinvar/97697 ^@ NM_001065.3(TNFRSF1A):c.374G>A (p.Cys125Tyr) http://identifiers.org/clinvar/97698 ^@ NM_001065.3(TNFRSF1A):c.380G>A (p.Cys127Tyr) http://identifiers.org/clinvar/97699 ^@ NM_001065.3(TNFRSF1A):c.398G>A (p.Arg133Gln) http://identifiers.org/clinvar/97700 ^@ NM_001065.3(TNFRSF1A):c.401A>C (p.His134Pro) http://identifiers.org/clinvar/97701 ^@ NM_001065.3(TNFRSF1A):c.413A>C (p.Glu138Ala) http://identifiers.org/clinvar/97702 ^@ NM_001065.3(TNFRSF1A):c.421T>A (p.Phe141Ile) http://identifiers.org/clinvar/97703 ^@ NM_001065.3(TNFRSF1A):c.434A>G (p.Asn145Ser) http://identifiers.org/clinvar/97704 ^@ NM_001065.3(TNFRSF1A):c.472+1G>A http://identifiers.org/clinvar/97705 ^@ NM_001065.3(TNFRSF1A):c.472+6C>T http://identifiers.org/clinvar/97706 ^@ NM_001065.3(TNFRSF1A):c.473-16G>A http://identifiers.org/clinvar/97707 ^@ NM_001065.3(TNFRSF1A):c.552-89A>T http://identifiers.org/clinvar/97708 ^@ NM_001065.3(TNFRSF1A):c.558G>A (p.Lys186=) http://identifiers.org/clinvar/97709 ^@ NM_001065.3(TNFRSF1A):c.586_612del27 (p.Leu196_Gly204del) http://identifiers.org/clinvar/97710 ^@ NM_001065.3(TNFRSF1A):c.596T>A (p.Ile199Asn) http://identifiers.org/clinvar/97711 ^@ NM_001065.3(TNFRSF1A):c.605T>A (p.Val202Asp) http://identifiers.org/clinvar/97712 ^@ NM_001065.3(TNFRSF1A):c.678C>G (p.Ser226=) http://identifiers.org/clinvar/97713 ^@ NM_001127255.1(NLRP7):c.-39-387_2129+265dup http://identifiers.org/clinvar/97714 ^@ NM_001127255.1(NLRP7):c.-39-427T>C http://identifiers.org/clinvar/97715 ^@ NM_001127255.1(NLRP7):c.1137G>C (p.Lys379Asn) http://identifiers.org/clinvar/97716 ^@ NM_001127255.1(NLRP7):c.1138G>C (p.Gly380Arg) http://identifiers.org/clinvar/97717 ^@ NM_001127255.1(NLRP7):c.1196G>A (p.Cys399Tyr) http://identifiers.org/clinvar/97718 ^@ NM_001127255.1(NLRP7):c.1302C>T (p.Asp434=) http://identifiers.org/clinvar/97719 ^@ NM_001127255.1(NLRP7):c.1456dupG (p.Glu486Glyfs) http://identifiers.org/clinvar/97720 ^@ NM_001127255.1(NLRP7):c.1708G>T (p.Glu570Ter) http://identifiers.org/clinvar/97721 ^@ NM_001127255.1(NLRP7):c.183delC (p.Ser62Profs) http://identifiers.org/clinvar/97722 ^@ NM_001127255.1(NLRP7):c.1931+110T>C http://identifiers.org/clinvar/97723 ^@ NM_001127255.1(NLRP7):c.1931+176G>T http://identifiers.org/clinvar/97724 ^@ NM_001127255.1(NLRP7):c.1931+18A>T http://identifiers.org/clinvar/97725 ^@ NM_001127255.1(NLRP7):c.1931+226C>G http://identifiers.org/clinvar/97726 ^@ NM_001127255.1(NLRP7):c.1931+43C>T http://identifiers.org/clinvar/97727 ^@ NM_001127255.1(NLRP7):c.1932-103G>C http://identifiers.org/clinvar/97728 ^@ NM_001127255.1(NLRP7):c.1932-146C>T http://identifiers.org/clinvar/97729 ^@ NM_001127255.1(NLRP7):c.1932-178delT http://identifiers.org/clinvar/97730 ^@ NM_001127255.1(NLRP7):c.1932-57T>C http://identifiers.org/clinvar/97731 ^@ NM_001127255.1(NLRP7):c.1970A>T (p.Asp657Val) http://identifiers.org/clinvar/97732 ^@ NM_001127255.1(NLRP7):c.2018C>G (p.Ser673Ter) http://identifiers.org/clinvar/97734 ^@ NM_001127255.1(NLRP7):c.2094C>T (p.His698=) http://identifiers.org/clinvar/97735 ^@ NM_001127255.1(NLRP7):c.2095G>A (p.Val699Ile) http://identifiers.org/clinvar/97736 ^@ NM_001127255.1(NLRP7):c.2101C>T (p.Arg701Cys) http://identifiers.org/clinvar/97737 ^@ NM_001127255.1(NLRP7):c.2129+214C>T http://identifiers.org/clinvar/97738 ^@ NM_001127255.1(NLRP7):c.2129+313C>G http://identifiers.org/clinvar/97739 ^@ NM_001127255.1(NLRP7):c.2129+38G>C http://identifiers.org/clinvar/97740 ^@ NM_001127255.1(NLRP7):c.2129+399G>A http://identifiers.org/clinvar/97741 ^@ NM_001127255.1(NLRP7):c.2129+432T>C http://identifiers.org/clinvar/97742 ^@ NM_001127255.1(NLRP7):c.2129+451C>T http://identifiers.org/clinvar/97743 ^@ NM_001127255.1(NLRP7):c.2130-304C>G http://identifiers.org/clinvar/97744 ^@ NM_001127255.1(NLRP7):c.2130-718G>A http://identifiers.org/clinvar/97745 ^@ NM_001127255.1(NLRP7):c.2146C>G (p.Pro716Ala) http://identifiers.org/clinvar/97746 ^@ NM_001127255.1(NLRP7):c.2147delC (p.Pro716Leufs) http://identifiers.org/clinvar/97747 ^@ NM_001127255.1(NLRP7):c.2156C>T (p.Ala719Val) http://identifiers.org/clinvar/97748 ^@ NM_001127255.1(NLRP7):c.2161C>T (p.Arg721Trp) http://identifiers.org/clinvar/97749 ^@ NM_001127255.1(NLRP7):c.2165A>G (p.Asp722Gly) http://identifiers.org/clinvar/97750 ^@ NM_001127255.1(NLRP7):c.2248C>G (p.Leu750Val) http://identifiers.org/clinvar/97751 ^@ NM_001127255.1(NLRP7):c.2282G>A (p.Cys761Tyr) http://identifiers.org/clinvar/97752 ^@ NM_001127255.1(NLRP7):c.2300+128C>T http://identifiers.org/clinvar/97753 ^@ NM_001127255.1(NLRP7):c.2300+322C>T http://identifiers.org/clinvar/97754 ^@ NM_001127255.1(NLRP7):c.2300+331A>G http://identifiers.org/clinvar/97755 ^@ NM_001127255.1(NLRP7):c.2300+47A>G http://identifiers.org/clinvar/97756 ^@ NM_001127255.1(NLRP7):c.2334G>A (p.Trp778Ter) http://identifiers.org/clinvar/97758 ^@ NM_001127255.1(NLRP7):c.2471+81_2471+82insG http://identifiers.org/clinvar/97759 ^@ NM_001127255.1(NLRP7):c.2472-126A>G http://identifiers.org/clinvar/97760 ^@ NM_001127255.1(NLRP7):c.2472-181G>A http://identifiers.org/clinvar/97761 ^@ NM_001127255.1(NLRP7):c.251G>A (p.Cys84Tyr) http://identifiers.org/clinvar/97762 ^@ NM_001127255.1(NLRP7):c.2642+114G>A http://identifiers.org/clinvar/97763 ^@ NM_001127255.1(NLRP7):c.2643-1390T>C http://identifiers.org/clinvar/97764 ^@ NM_001127255.1(NLRP7):c.2643-246T>G http://identifiers.org/clinvar/97765 ^@ NM_001127255.1(NLRP7):c.2643-364G>T http://identifiers.org/clinvar/97766 ^@ NM_001127255.1(NLRP7):c.2810+123G>A http://identifiers.org/clinvar/97767 ^@ NM_001127255.1(NLRP7):c.2810+126T>C http://identifiers.org/clinvar/97768 ^@ NM_001127255.1(NLRP7):c.2810+171T>A http://identifiers.org/clinvar/97769 ^@ NM_001127255.1(NLRP7):c.2810+224G>A http://identifiers.org/clinvar/97770 ^@ NM_001127255.1(NLRP7):c.2810+2699G>C http://identifiers.org/clinvar/97771 ^@ NM_001127255.1(NLRP7):c.2810+26C>T http://identifiers.org/clinvar/97772 ^@ NM_001127255.1(NLRP7):c.2810+2T>G http://identifiers.org/clinvar/97773 ^@ NM_001127255.1(NLRP7):c.2810+57T>C http://identifiers.org/clinvar/97774 ^@ NM_001127255.1(NLRP7):c.2811-1214C>T http://identifiers.org/clinvar/97775 ^@ NM_001127255.1(NLRP7):c.2811-135C>T http://identifiers.org/clinvar/97776 ^@ NM_001127255.1(NLRP7):c.2811-178G>A http://identifiers.org/clinvar/97777 ^@ NM_001127255.1(NLRP7):c.2811-228T>C http://identifiers.org/clinvar/97778 ^@ NM_001127255.1(NLRP7):c.2811-312C>A http://identifiers.org/clinvar/97779 ^@ NM_001127255.1(NLRP7):c.2811-329A>G http://identifiers.org/clinvar/97780 ^@ NM_001127255.1(NLRP7):c.2811-34T>G http://identifiers.org/clinvar/97781 ^@ NM_001127255.1(NLRP7):c.2811-37C>T http://identifiers.org/clinvar/97782 ^@ NM_001127255.1(NLRP7):c.2811-394G>T http://identifiers.org/clinvar/97783 ^@ NM_001127255.1(NLRP7):c.2811-399A>G http://identifiers.org/clinvar/97784 ^@ NM_001127255.1(NLRP7):c.2811-402C>T http://identifiers.org/clinvar/97785 ^@ NM_001127255.1(NLRP7):c.2811-496T>C http://identifiers.org/clinvar/97786 ^@ NM_001127255.1(NLRP7):c.2811-523C>T http://identifiers.org/clinvar/97787 ^@ NM_001127255.1(NLRP7):c.2811-559A>G http://identifiers.org/clinvar/97788 ^@ NM_001127255.1(NLRP7):c.2811-678C>A http://identifiers.org/clinvar/97789 ^@ NM_001127255.1(NLRP7):c.2811-695T>C http://identifiers.org/clinvar/97790 ^@ NM_001127255.1(NLRP7):c.2891T>C (p.Leu964Pro) http://identifiers.org/clinvar/97791 ^@ NM_001127255.1(NLRP7):c.295G>T (p.Glu99Ter) http://identifiers.org/clinvar/97792 ^@ NM_001127255.1(NLRP7):c.2981+123T>C http://identifiers.org/clinvar/97793 ^@ NM_001127255.1(NLRP7):c.2981+142C>A http://identifiers.org/clinvar/97794 ^@ NM_001127255.1(NLRP7):c.2981+29_2981+32delGTTT http://identifiers.org/clinvar/97795 ^@ NM_001127255.1(NLRP7):c.2981+33T>G http://identifiers.org/clinvar/97796 ^@ NM_001127255.1(NLRP7):c.337dupG (p.Glu113Glyfs) http://identifiers.org/clinvar/97797 ^@ NM_001127255.1(NLRP7):c.346A>T (p.Lys116Ter) http://identifiers.org/clinvar/97799 ^@ NM_001127255.1(NLRP7):c.352+231G>A http://identifiers.org/clinvar/97800 ^@ NM_001127255.1(NLRP7):c.353-111C>T http://identifiers.org/clinvar/97801 ^@ NM_001127255.1(NLRP7):c.353-178A>G http://identifiers.org/clinvar/97802 ^@ NM_001127255.1(NLRP7):c.353-216C>G http://identifiers.org/clinvar/97803 ^@ NM_001127255.1(NLRP7):c.353-235C>T http://identifiers.org/clinvar/97804 ^@ NM_001127255.1(NLRP7):c.574A>C (p.Met192Leu) http://identifiers.org/clinvar/97805 ^@ NM_001127255.1(NLRP7):c.701T>C (p.Leu234Ser) http://identifiers.org/clinvar/97806 ^@ NM_001127255.1(NLRP7):c.915A>C (p.Ala305=) http://identifiers.org/clinvar/97807 ^@ NM_001127255.1(NLRP7):c.939_952dupGCAGCAGCCGATCT (p.Tyr318Cysfs) http://identifiers.org/clinvar/97808 ^@ NM_001127255.1(NLRP7):c.985A>C (p.Arg329=) http://identifiers.org/clinvar/97809 ^@ NM_003978.4(PSTPIP1):c.741+32_741+33dupGT http://identifiers.org/clinvar/97810 ^@ NM_003978.4(PSTPIP1):c.748G>A (p.Glu250Lys) http://identifiers.org/clinvar/97811 ^@ NM_003978.4(PSTPIP1):c.796G>A (p.Asp266Asn) http://identifiers.org/clinvar/97812 ^@ NM_004895.4(NLRP3):c.1000A>G (p.Ser334Gly) http://identifiers.org/clinvar/97813 ^@ NM_014646.2(LPIN2):c.1159A>G (p.Lys387Glu) http://identifiers.org/clinvar/97814 ^@ NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) http://identifiers.org/clinvar/97815 ^@ NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) http://identifiers.org/clinvar/97816 ^@ NM_022162.2(NOD2):c.*9G>A http://identifiers.org/clinvar/97817 ^@ NM_022162.2(NOD2):c.1042C>G (p.Leu348Val) http://identifiers.org/clinvar/97818 ^@ NM_022162.2(NOD2):c.1065G>A (p.Trp355Ter) http://identifiers.org/clinvar/97819 ^@ NM_022162.2(NOD2):c.1070A>C (p.Asp357Ala) http://identifiers.org/clinvar/97820 ^@ NM_022162.2(NOD2):c.1087A>T (p.Ile363Phe) http://identifiers.org/clinvar/97821 ^@ NM_022162.2(NOD2):c.113G>T (p.Arg38Met) http://identifiers.org/clinvar/97822 ^@ NM_022162.2(NOD2):c.1148A>G (p.Glu383Gly) http://identifiers.org/clinvar/97823 ^@ NM_022162.2(NOD2):c.1171C>T (p.Arg391Cys) http://identifiers.org/clinvar/97824 ^@ NM_022162.2(NOD2):c.1241A>G (p.Asn414Ser) http://identifiers.org/clinvar/97825 ^@ NM_022162.2(NOD2):c.1281G>A (p.Pro427=) http://identifiers.org/clinvar/97826 ^@ NM_022162.2(NOD2):c.1292C>T (p.Ser431Leu) http://identifiers.org/clinvar/97827 ^@ NM_022162.2(NOD2):c.1321G>A (p.Glu441Lys) http://identifiers.org/clinvar/97828 ^@ NM_022162.2(NOD2):c.1387C>G (p.Pro463Ala) http://identifiers.org/clinvar/97829 ^@ NM_022162.2(NOD2):c.1390G>T (p.Gly464Trp) http://identifiers.org/clinvar/97830 ^@ NM_022162.2(NOD2):c.1442G>A (p.Gly481Asp) http://identifiers.org/clinvar/97831 ^@ NM_022162.2(NOD2):c.1469G>T (p.Trp490Leu) http://identifiers.org/clinvar/97832 ^@ NM_022162.2(NOD2):c.1484G>A (p.Cys495Tyr) http://identifiers.org/clinvar/97833 ^@ NM_022162.2(NOD2):c.1509G>A (p.Glu503=) http://identifiers.org/clinvar/97834 ^@ NM_022162.2(NOD2):c.1538T>C (p.Met513Thr) http://identifiers.org/clinvar/97835 ^@ NM_022162.2(NOD2):c.1581C>G (p.Pro527=) http://identifiers.org/clinvar/97836 ^@ NM_022162.2(NOD2):c.1648C>G (p.Leu550Val) http://identifiers.org/clinvar/97837 ^@ NM_022162.2(NOD2):c.1672_1677delCTGGGC (p.Leu558_Gly559del) http://identifiers.org/clinvar/97838 ^@ NM_022162.2(NOD2):c.1759C>T (p.Arg587Cys) http://identifiers.org/clinvar/97839 ^@ NM_022162.2(NOD2):c.1788G>A (p.Thr596=) http://identifiers.org/clinvar/97840 ^@ NM_022162.2(NOD2):c.1813A>C (p.Thr605Pro) http://identifiers.org/clinvar/97841 ^@ NM_022162.2(NOD2):c.1835C>T (p.Ala612Val) http://identifiers.org/clinvar/97842 ^@ NM_022162.2(NOD2):c.2010C>A (p.Asn670Lys) http://identifiers.org/clinvar/97843 ^@ NM_022162.2(NOD2):c.2137C>T (p.Arg713Cys) http://identifiers.org/clinvar/97844 ^@ NM_022162.2(NOD2):c.2138G>A (p.Arg713His) http://identifiers.org/clinvar/97845 ^@ NM_022162.2(NOD2):c.2180C>T (p.Pro727Leu) http://identifiers.org/clinvar/97846 ^@ NM_022162.2(NOD2):c.2220C>T (p.Ile740=) http://identifiers.org/clinvar/97847 ^@ NM_022162.2(NOD2):c.2273C>T (p.Ala758Val) http://identifiers.org/clinvar/97848 ^@ NM_022162.2(NOD2):c.2332G>A (p.Glu778Lys) http://identifiers.org/clinvar/97849 ^@ NM_022162.2(NOD2):c.2371C>T (p.Arg791Trp) http://identifiers.org/clinvar/97850 ^@ NM_022162.2(NOD2):c.2372G>A (p.Arg791Gln) http://identifiers.org/clinvar/97851 ^@ NM_022162.2(NOD2):c.2377G>A (p.Val793Met) http://identifiers.org/clinvar/97852 ^@ NM_022162.2(NOD2):c.2406G>T (p.Val802=) http://identifiers.org/clinvar/97853 ^@ NM_022162.2(NOD2):c.2475C>G (p.Asn825Lys) http://identifiers.org/clinvar/97854 ^@ NM_022162.2(NOD2):c.2527G>A (p.Glu843Lys) http://identifiers.org/clinvar/97855 ^@ NM_022162.2(NOD2):c.2546C>T (p.Ala849Val) http://identifiers.org/clinvar/97856 ^@ NM_022162.2(NOD2):c.2555A>G (p.Asn852Ser) http://identifiers.org/clinvar/97857 ^@ NM_022162.2(NOD2):c.2558A>G (p.Asn853Ser) http://identifiers.org/clinvar/97858 ^@ NM_022162.2(NOD2):c.2587A>G (p.Met863Val) http://identifiers.org/clinvar/97859 ^@ NM_022162.2(NOD2):c.2619C>T (p.Phe873=) http://identifiers.org/clinvar/97860 ^@ NM_022162.2(NOD2):c.2630+35T>A http://identifiers.org/clinvar/97861 ^@ NM_022162.2(NOD2):c.2631-5T>C http://identifiers.org/clinvar/97862 ^@ NM_022162.2(NOD2):c.2715-75G>A http://identifiers.org/clinvar/97863 ^@ NM_022162.2(NOD2):c.2715-81G>A http://identifiers.org/clinvar/97864 ^@ NM_022162.2(NOD2):c.2719T>C (p.Trp907Arg) http://identifiers.org/clinvar/97865 ^@ NM_022162.2(NOD2):c.2739C>T (p.Asp913=) http://identifiers.org/clinvar/97866 ^@ NM_022162.2(NOD2):c.2753C>A (p.Ala918Asp) http://identifiers.org/clinvar/97867 ^@ NM_022162.2(NOD2):c.2771G>A (p.Gly924Asp) http://identifiers.org/clinvar/97868 ^@ NM_022162.2(NOD2):c.2817T>C (p.Ile939=) http://identifiers.org/clinvar/97869 ^@ NM_022162.2(NOD2):c.2863G>A (p.Val955Ile) http://identifiers.org/clinvar/97870 ^@ NM_022162.2(NOD2):c.2914G>A (p.Val972Ile) http://identifiers.org/clinvar/97871 ^@ NM_022162.2(NOD2):c.2925C>T (p.Leu975=) http://identifiers.org/clinvar/97872 ^@ NM_022162.2(NOD2):c.2933G>A (p.Gly978Glu) http://identifiers.org/clinvar/97873 ^@ NM_022162.2(NOD2):c.3051-102C>G http://identifiers.org/clinvar/97874 ^@ NM_022162.2(NOD2):c.3055C>T (p.Arg1019Ter) http://identifiers.org/clinvar/97875 ^@ NM_022162.2(NOD2):c.315G>A (p.Ala105=) http://identifiers.org/clinvar/97876 ^@ NM_022162.2(NOD2):c.337G>A (p.Asp113Asn) http://identifiers.org/clinvar/97877 ^@ NM_022162.2(NOD2):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/97878 ^@ NM_022162.2(NOD2):c.469T>C (p.Trp157Arg) http://identifiers.org/clinvar/97879 ^@ NM_022162.2(NOD2):c.703C>T (p.Arg235Cys) http://identifiers.org/clinvar/97880 ^@ NM_022162.2(NOD2):c.74-7T>A http://identifiers.org/clinvar/97881 ^@ NM_022162.2(NOD2):c.743T>G (p.Leu248Arg) http://identifiers.org/clinvar/97882 ^@ NM_022162.2(NOD2):c.871G>A (p.Asp291Asn) http://identifiers.org/clinvar/97883 ^@ NM_022162.2(NOD2):c.881C>G (p.Thr294Ser) http://identifiers.org/clinvar/97884 ^@ NM_022162.2(NOD2):c.902C>T (p.Ala301Val) http://identifiers.org/clinvar/97885 ^@ NM_022162.2(NOD2):c.931C>T (p.Arg311Trp) http://identifiers.org/clinvar/97886 ^@ NM_144687.3(NLRP12):c.1343G>C (p.Gly448Ala) http://identifiers.org/clinvar/97888 ^@ NM_144687.3(NLRP12):c.2243+35C>T http://identifiers.org/clinvar/97889 ^@ NM_144687.3(NLRP12):c.2701G>C (p.Val901Leu) http://identifiers.org/clinvar/97890 ^@ NM_144687.3(NLRP12):c.2784C>T (p.Ala928=) http://identifiers.org/clinvar/97891 ^@ NM_144687.3(NLRP12):c.2830C>A (p.Arg944=) http://identifiers.org/clinvar/97892 ^@ NM_000243.2(MEFV):c.1587+33C>G http://identifiers.org/clinvar/97893 ^@ NM_000431.3(MVK):c.-76-249A>T http://identifiers.org/clinvar/97894 ^@ NM_001127255.1(NLRP7):c.-39-16C>T http://identifiers.org/clinvar/97895 ^@ NM_001127255.1(NLRP7):c.-39-300C>T http://identifiers.org/clinvar/97896 ^@ NM_001127255.1(NLRP7):c.-39-393G>A http://identifiers.org/clinvar/97897 ^@ NM_001127255.1(NLRP7):c.-39-792C>T http://identifiers.org/clinvar/97898 ^@ NM_001127255.1(NLRP7):c.-39-90G>C http://identifiers.org/clinvar/97899 ^@ NM_001127255.1(NLRP7):c.-40+21C>T http://identifiers.org/clinvar/97900 ^@ NM_001127255.1(NLRP7):c.-40+36C>T http://identifiers.org/clinvar/97901 ^@ NM_001127255.1(NLRP7):c.2811-28C>T http://identifiers.org/clinvar/97902 ^@ NM_022162.2(NOD2):c.1117C>T (p.Arg373Cys) http://identifiers.org/clinvar/97903 ^@ NM_022162.2(NOD2):c.357G>T (p.Leu119=) http://identifiers.org/clinvar/97904 ^@ NM_144687.3(NLRP12):c.289+18C>T http://identifiers.org/clinvar/97905 ^@ NM_173842.2(IL1RN):c.156_157delCA (p.Asn52Lysfs) http://identifiers.org/clinvar/97908 ^@ NM_001243133.1(NLRP3):c.1032G>A (p.Leu344=) http://identifiers.org/clinvar/97909 ^@ NM_001243133.1(NLRP3):c.1043C>T (p.Thr348Met) http://identifiers.org/clinvar/97910 ^@ NM_001243133.1(NLRP3):c.1051G>A (p.Val351Met) http://identifiers.org/clinvar/97911 ^@ NM_001243133.1(NLRP3):c.1051G>C (p.Val351Leu) http://identifiers.org/clinvar/97912 ^@ NM_001243133.1(NLRP3):c.1054G>A (p.Ala352Thr) http://identifiers.org/clinvar/97913 ^@ NM_001243133.1(NLRP3):c.1062G>T (p.Glu354Asp) http://identifiers.org/clinvar/97914 ^@ NM_001243133.1(NLRP3):c.1073A>G (p.His358Arg) http://identifiers.org/clinvar/97915 ^@ NM_001243133.1(NLRP3):c.1121C>A (p.Ala374Asp) http://identifiers.org/clinvar/97916 ^@ NM_001243133.1(NLRP3):c.1213A>C (p.Thr405Pro) http://identifiers.org/clinvar/97917 ^@ NM_001243133.1(NLRP3):c.1218G>C (p.Met406Ile) http://identifiers.org/clinvar/97918 ^@ NM_001243133.1(NLRP3):c.1231C>T (p.Leu411=) http://identifiers.org/clinvar/97919 ^@ NM_001243133.1(NLRP3):c.1241G>T (p.Trp414Leu) http://identifiers.org/clinvar/97920 ^@ NM_001243133.1(NLRP3):c.1306A>C (p.Thr436Pro) http://identifiers.org/clinvar/97921 ^@ NM_001243133.1(NLRP3):c.1306A>G (p.Thr436Ala) http://identifiers.org/clinvar/97922 ^@ NM_004895.4(NLRP3):c.1312_1314delACC (p.Thr440del) http://identifiers.org/clinvar/97923 ^@ NM_001243133.1(NLRP3):c.1307C>A (p.Thr436Asn) http://identifiers.org/clinvar/97924 ^@ NM_001243133.1(NLRP3):c.1307C>T (p.Thr436Ile) http://identifiers.org/clinvar/97925 ^@ NM_001243133.1(NLRP3):c.1315G>A (p.Ala439Thr) http://identifiers.org/clinvar/97926 ^@ NM_001243133.1(NLRP3):c.1315G>C (p.Ala439Pro) http://identifiers.org/clinvar/97927 ^@ NM_001243133.1(NLRP3):c.1321T>C (p.Tyr441His) http://identifiers.org/clinvar/97928 ^@ NM_001243133.1(NLRP3):c.1329C>G (p.Phe443Leu) http://identifiers.org/clinvar/97929 ^@ NM_001243133.1(NLRP3):c.1374C>T (p.His458=) http://identifiers.org/clinvar/97930 ^@ NM_001243133.1(NLRP3):c.1383C>T (p.Cys461=) http://identifiers.org/clinvar/97931 ^@ NM_001243133.1(NLRP3):c.1389C>T (p.His463=) http://identifiers.org/clinvar/97932 ^@ NM_001243133.1(NLRP3):c.1431C>A (p.Asn477Lys) http://identifiers.org/clinvar/97933 ^@ NM_001243133.1(NLRP3):c.1438A>T (p.Ile480Phe) http://identifiers.org/clinvar/97934 ^@ NM_001243133.1(NLRP3):c.1463G>A (p.Arg488Lys) http://identifiers.org/clinvar/97935 ^@ NM_001243133.1(NLRP3):c.1484C>T (p.Ala495Val) http://identifiers.org/clinvar/97936 ^@ NM_001243133.1(NLRP3):c.1568T>G (p.Phe523Cys) http://identifiers.org/clinvar/97937 ^@ NM_001243133.1(NLRP3):c.1569C>A (p.Phe523Leu) http://identifiers.org/clinvar/97938 ^@ NM_001243133.1(NLRP3):c.1569C>G (p.Phe523Leu) http://identifiers.org/clinvar/97939 ^@ NM_001243133.1(NLRP3):c.1573G>A (p.Glu525Lys) http://identifiers.org/clinvar/97940 ^@ NM_001243133.1(NLRP3):c.1600C>T (p.Leu534=) http://identifiers.org/clinvar/97941 ^@ NM_001243133.1(NLRP3):c.1660C>T (p.Arg554Ter) http://identifiers.org/clinvar/97942 ^@ NM_001243133.1(NLRP3):c.1669A>G (p.Thr557Ala) http://identifiers.org/clinvar/97943 ^@ NM_001243133.1(NLRP3):c.1687T>A (p.Tyr563Asn) http://identifiers.org/clinvar/97944 ^@ NM_001243133.1(NLRP3):c.1699G>A (p.Glu567Lys) http://identifiers.org/clinvar/97945 ^@ NM_001243133.1(NLRP3):c.1706G>C (p.Gly569Ala) http://identifiers.org/clinvar/97946 ^@ NM_001243133.1(NLRP3):c.1709A>G (p.Tyr570Cys) http://identifiers.org/clinvar/97947 ^@ NM_001243133.1(NLRP3):c.1709A>T (p.Tyr570Phe) http://identifiers.org/clinvar/97948 ^@ NM_001243133.1(NLRP3):c.1713G>T (p.Leu571Phe) http://identifiers.org/clinvar/97949 ^@ NM_001243133.1(NLRP3):c.1714A>T (p.Ile572Phe) http://identifiers.org/clinvar/97950 ^@ NM_001243133.1(NLRP3):c.1760C>T (p.Thr587Ile) http://identifiers.org/clinvar/97951 ^@ NM_001243133.1(NLRP3):c.1896G>T (p.Leu632Phe) http://identifiers.org/clinvar/97952 ^@ NM_001243133.1(NLRP3):c.1976T>A (p.Met659Lys) http://identifiers.org/clinvar/97953 ^@ NM_001243133.1(NLRP3):c.1985T>C (p.Met662Thr) http://identifiers.org/clinvar/97954 ^@ NM_001243133.1(NLRP3):c.2062G>A (p.Glu688Lys) http://identifiers.org/clinvar/97955 ^@ NM_001243133.1(NLRP3):c.2068G>A (p.Glu690Lys) http://identifiers.org/clinvar/97956 ^@ NM_001243133.1(NLRP3):c.2102T>C (p.Met701Thr) http://identifiers.org/clinvar/97957 ^@ NM_001243133.1(NLRP3):c.2129C>G (p.Ser710Cys) http://identifiers.org/clinvar/97958 ^@ NM_001243133.1(NLRP3):c.2263G>C (p.Gly755Arg) http://identifiers.org/clinvar/97959 ^@ NM_001243133.1(NLRP3):c.2264G>C (p.Gly755Ala) http://identifiers.org/clinvar/97960 ^@ NM_001243133.1(NLRP3):c.2576A>G (p.Tyr859Cys) http://identifiers.org/clinvar/97961 ^@ NM_001243133.1(NLRP3):c.398-56C>T http://identifiers.org/clinvar/97962 ^@ NM_001243133.1(NLRP3):c.443G>A (p.Cys148Tyr) http://identifiers.org/clinvar/97963 ^@ NM_001243133.1(NLRP3):c.503G>A (p.Arg168Gln) http://identifiers.org/clinvar/97964 ^@ NM_001243133.1(NLRP3):c.515T>C (p.Ile172Thr) http://identifiers.org/clinvar/97965 ^@ NM_001243133.1(NLRP3):c.587G>A (p.Ser196Asn) http://identifiers.org/clinvar/97966 ^@ NM_001243133.1(NLRP3):c.674C>T (p.Ala225Val) http://identifiers.org/clinvar/97967 ^@ NM_001243133.1(NLRP3):c.699G>A (p.Leu233=) http://identifiers.org/clinvar/97968 ^@ NM_001243133.1(NLRP3):c.777T>G (p.Cys259Trp) http://identifiers.org/clinvar/97969 ^@ NM_001243133.1(NLRP3):c.779G>C (p.Arg260Pro) http://identifiers.org/clinvar/97970 ^@ NM_001243133.1(NLRP3):c.779G>T (p.Arg260Leu) http://identifiers.org/clinvar/97971 ^@ NM_001243133.1(NLRP3):c.785T>C (p.Val262Ala) http://identifiers.org/clinvar/97972 ^@ NM_001243133.1(NLRP3):c.785T>G (p.Val262Gly) http://identifiers.org/clinvar/97973 ^@ NM_001243133.1(NLRP3):c.790C>G (p.Leu264Val) http://identifiers.org/clinvar/97974 ^@ NM_001243133.1(NLRP3):c.790C>T (p.Leu264Phe) http://identifiers.org/clinvar/97975 ^@ NM_001243133.1(NLRP3):c.791T>A (p.Leu264His) http://identifiers.org/clinvar/97976 ^@ NM_001243133.1(NLRP3):c.791T>G (p.Leu264Arg) http://identifiers.org/clinvar/97977 ^@ NM_001243133.1(NLRP3):c.895A>G (p.Met299Val) http://identifiers.org/clinvar/97978 ^@ NM_001243133.1(NLRP3):c.902G>A (p.Gly301Asp) http://identifiers.org/clinvar/97979 ^@ NM_001243133.1(NLRP3):c.907G>C (p.Asp303His) http://identifiers.org/clinvar/97980 ^@ NM_001243133.1(NLRP3):c.908A>G (p.Asp303Gly) http://identifiers.org/clinvar/97981 ^@ NM_001243133.1(NLRP3):c.910G>A (p.Glu304Lys) http://identifiers.org/clinvar/97982 ^@ NM_001243133.1(NLRP3):c.914T>C (p.Leu305Pro) http://identifiers.org/clinvar/97983 ^@ NM_001243133.1(NLRP3):c.916C>A (p.Gln306Lys) http://identifiers.org/clinvar/97984 ^@ NM_001243133.1(NLRP3):c.916C>G (p.Gln306Glu) http://identifiers.org/clinvar/97985 ^@ NM_001243133.1(NLRP3):c.920G>T (p.Gly307Val) http://identifiers.org/clinvar/97986 ^@ NM_001243133.1(NLRP3):c.930C>T (p.Asp310=) http://identifiers.org/clinvar/97987 ^@ NM_001243133.1(NLRP3):c.931G>A (p.Glu311Lys) http://identifiers.org/clinvar/97988 ^@ NM_001243133.1(NLRP3):c.935A>C (p.His312Pro) http://identifiers.org/clinvar/97989 ^@ NM_001243133.1(NLRP3):c.937A>G (p.Ile313Val) http://identifiers.org/clinvar/97990 ^@ NM_001243133.1(NLRP3):c.944C>T (p.Pro315Leu) http://identifiers.org/clinvar/97991 ^@ NM_001243133.1(NLRP3):c.973C>T (p.Arg325Trp) http://identifiers.org/clinvar/97992 ^@ NM_001243133.1(NLRP3):c.977G>A (p.Gly326Glu) http://identifiers.org/clinvar/97993 ^@ NM_001243133.1(NLRP3):c.993C>A (p.Ser331Arg) http://identifiers.org/clinvar/97994 ^@ NM_001065.3(TNFRSF1A):c.40-1057C>G http://identifiers.org/clinvar/97995 ^@ NM_000447.2(PSEN2):c.185G>A (p.Arg62His) http://identifiers.org/clinvar/97996 ^@ NM_000447.2(PSEN2):c.442G>A (p.Val148Ile) http://identifiers.org/clinvar/97997 ^@ NM_000447.2(PSEN2):c.683A>T (p.Gln228Leu) http://identifiers.org/clinvar/97998 ^@ NM_000447.2(PSEN2):c.1001C>G (p.Pro334Arg) http://identifiers.org/clinvar/97999 ^@ NM_014043.3(CHMP2B):c.27C>T (p.Thr9=) http://identifiers.org/clinvar/98000 ^@ NM_014043.3(CHMP2B):c.312T>C (p.Thr104=) http://identifiers.org/clinvar/98001 ^@ NM_014043.3(CHMP2B):c.372A>C (p.Thr124=) http://identifiers.org/clinvar/98002 ^@ NM_014043.3(CHMP2B):c.428A>G (p.Asn143Ser) http://identifiers.org/clinvar/98003 ^@ NM_014043.3(CHMP2B):c.532-1G>C http://identifiers.org/clinvar/98004 ^@ NM_000021.3(PSEN1):c.104G>A (p.Arg35Gln) http://identifiers.org/clinvar/98005 ^@ NM_000021.3(PSEN1):c.244G>C (p.Val82Leu) http://identifiers.org/clinvar/98006 ^@ NM_000021.3(PSEN1):c.247_252delATCATG (p.Ile83_Met84del) http://identifiers.org/clinvar/98008 ^@ NM_000021.3(PSEN1):c.280G>A (p.Val94Met) http://identifiers.org/clinvar/98009 ^@ NM_000021.3(PSEN1):c.286G>T (p.Val96Phe) http://identifiers.org/clinvar/98010 ^@ NM_000021.3(PSEN1):c.289G>T (p.Val97Leu) http://identifiers.org/clinvar/98011 ^@ NM_000021.3(PSEN1):c.313T>A (p.Phe105Ile) http://identifiers.org/clinvar/98012 ^@ NM_000021.3(PSEN1):c.315T>G (p.Phe105Leu) http://identifiers.org/clinvar/98013 ^@ NM_000021.3(PSEN1):c.338+1delG http://identifiers.org/clinvar/98014 ^@ NM_000021.3(PSEN1):c.343T>G (p.Tyr115Asp) http://identifiers.org/clinvar/98015 ^@ NM_000021.3(PSEN1):c.344A>G (p.Tyr115Cys) http://identifiers.org/clinvar/98016 ^@ NM_000021.3(PSEN1):c.347C>T (p.Thr116Ile) http://identifiers.org/clinvar/98017 ^@ NM_000021.3(PSEN1):c.349C>T (p.Pro117Ser) http://identifiers.org/clinvar/98018 ^@ NM_000021.3(PSEN1):c.350C>T (p.Pro117Leu) http://identifiers.org/clinvar/98019 ^@ NM_000021.3(PSEN1):c.358G>A (p.Glu120Lys) http://identifiers.org/clinvar/98020 ^@ NM_000021.3(PSEN1):c.367G>A (p.Glu123Lys) http://identifiers.org/clinvar/98021 ^@ NM_000021.3(PSEN1):c.403A>G (p.Asn135Asp) http://identifiers.org/clinvar/98022 ^@ NM_000021.3(PSEN1):c.404A>G (p.Asn135Ser) http://identifiers.org/clinvar/98023 ^@ NM_000021.3(PSEN1):c.416T>C (p.Met139Thr) http://identifiers.org/clinvar/98024 ^@ NM_000021.3(PSEN1):c.417G>A (p.Met139Ile) http://identifiers.org/clinvar/98025 ^@ NM_000021.3(PSEN1):c.427A>T (p.Ile143Phe) http://identifiers.org/clinvar/98026 ^@ NM_000021.3(PSEN1):c.428T>C (p.Ile143Thr) http://identifiers.org/clinvar/98027 ^@ NM_000021.3(PSEN1):c.429T>G (p.Ile143Met) http://identifiers.org/clinvar/98028 ^@ NM_000021.3(PSEN1):c.436A>T (p.Met146Leu) http://identifiers.org/clinvar/98029 ^@ NM_000021.3(PSEN1):c.438G>T (p.Met146Ile) http://identifiers.org/clinvar/98030 ^@ NM_000021.3(PSEN1):c.440C>T (p.Thr147Ile) http://identifiers.org/clinvar/98031 ^@ NM_000021.3(PSEN1):c.457C>G (p.Leu153Val) http://identifiers.org/clinvar/98032 ^@ NM_000021.3(PSEN1):c.460T>A (p.Tyr154Asn) http://identifiers.org/clinvar/98033 ^@ NM_000021.3(PSEN1):c.461A>G (p.Tyr154Cys) http://identifiers.org/clinvar/98034 ^@ NM_000021.3(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle) http://identifiers.org/clinvar/98035 ^@ NM_000021.3(PSEN1):c.493T>G (p.Trp165Gly) http://identifiers.org/clinvar/98036 ^@ NM_000021.3(PSEN1):c.495G>C (p.Trp165Cys) http://identifiers.org/clinvar/98037 ^@ NM_000021.3(PSEN1):c.496_498delCTT (p.Leu166del) http://identifiers.org/clinvar/98038 ^@ NM_000021.3(PSEN1):c.497T>G (p.Leu166Arg) http://identifiers.org/clinvar/98039 ^@ NM_000021.3(PSEN1):c.498_500delTAT (p.Ile168del) http://identifiers.org/clinvar/98040 ^@ NM_000021.3(PSEN1):c.505T>C (p.Ser169Pro) http://identifiers.org/clinvar/98041 ^@ NM_000021.3(PSEN1):c.506C>T (p.Ser169Leu) http://identifiers.org/clinvar/98042 ^@ NM_000021.3(PSEN1):c.512T>C (p.Leu171Pro) http://identifiers.org/clinvar/98043 ^@ NM_000021.3(PSEN1):c.518T>G (p.Leu173Trp) http://identifiers.org/clinvar/98044 ^@ NM_000021.3(PSEN1):c.521T>G (p.Leu174Arg) http://identifiers.org/clinvar/98045 ^@ NM_000021.3(PSEN1):c.524T>C (p.Phe175Ser) http://identifiers.org/clinvar/98046 ^@ NM_000021.3(PSEN1):c.529T>C (p.Phe177Leu) http://identifiers.org/clinvar/98047 ^@ NM_000021.3(PSEN1):c.530T>C (p.Phe177Ser) http://identifiers.org/clinvar/98048 ^@ NM_000021.3(PSEN1):c.532T>C (p.Ser178Pro) http://identifiers.org/clinvar/98049 ^@ NM_000021.3(PSEN1):c.552A>C (p.Glu184Asp) http://identifiers.org/clinvar/98050 ^@ NM_000021.3(PSEN1):c.616G>A (p.Gly206Ser) http://identifiers.org/clinvar/98051 ^@ NM_000021.3(PSEN1):c.617G>T (p.Gly206Val) http://identifiers.org/clinvar/98052 ^@ NM_000021.3(PSEN1):c.625G>A (p.Gly209Arg) http://identifiers.org/clinvar/98053 ^@ NM_000021.3(PSEN1):c.626G>T (p.Gly209Val) http://identifiers.org/clinvar/98054 ^@ NM_000021.3(PSEN1):c.637A>T (p.Ile213Phe) http://identifiers.org/clinvar/98055 ^@ NM_000021.3(PSEN1):c.638T>C (p.Ile213Thr) http://identifiers.org/clinvar/98056 ^@ NM_000021.3(PSEN1):c.640C>T (p.His214Tyr) http://identifiers.org/clinvar/98057 ^@ NM_000021.3(PSEN1):c.650G>A (p.Gly217Asp) http://identifiers.org/clinvar/98058 ^@ NM_000021.3(PSEN1):c.655C>T (p.Leu219Phe) http://identifiers.org/clinvar/98059 ^@ NM_000021.3(PSEN1):c.656T>C (p.Leu219Pro) http://identifiers.org/clinvar/98060 ^@ NM_000021.3(PSEN1):c.665A>G (p.Gln222Arg) http://identifiers.org/clinvar/98061 ^@ NM_000021.3(PSEN1):c.666G>C (p.Gln222His) http://identifiers.org/clinvar/98062 ^@ NM_000021.3(PSEN1):c.676C>T (p.Leu226Phe) http://identifiers.org/clinvar/98063 ^@ NM_000021.3(PSEN1):c.677T>G (p.Leu226Arg) http://identifiers.org/clinvar/98064 ^@ NM_000021.3(PSEN1):c.685A>T (p.Ile229Phe) http://identifiers.org/clinvar/98065 ^@ NM_000021.3(PSEN1):c.691G>A (p.Ala231Thr) http://identifiers.org/clinvar/98066 ^@ NM_000021.3(PSEN1):c.692C>T (p.Ala231Val) http://identifiers.org/clinvar/98067 ^@ NM_000021.3(PSEN1):c.697A>T (p.Met233Leu) http://identifiers.org/clinvar/98068 ^@ NM_000021.3(PSEN1):c.698T>C (p.Met233Thr) http://identifiers.org/clinvar/98069 ^@ NM_000021.3(PSEN1):c.699G>C (p.Met233Ile) http://identifiers.org/clinvar/98070 ^@ NM_000021.3(PSEN1):c.703C>G (p.Leu235Val) http://identifiers.org/clinvar/98071 ^@ NM_000021.3(PSEN1):c.704T>C (p.Leu235Pro) http://identifiers.org/clinvar/98072 ^@ NM_000021.3(PSEN1):c.709T>C (p.Phe237Leu) http://identifiers.org/clinvar/98073 ^@ NM_000021.3(PSEN1):c.733A>C (p.Thr245Pro) http://identifiers.org/clinvar/98074 ^@ NM_000021.3(PSEN1):c.748T>G (p.Leu250Val) http://identifiers.org/clinvar/98075 ^@ NM_000021.3(PSEN1):c.779C>T (p.Ala260Val) http://identifiers.org/clinvar/98076 ^@ NM_000021.3(PSEN1):c.781G>T (p.Val261Phe) http://identifiers.org/clinvar/98077 ^@ NM_000021.3(PSEN1):c.786G>C (p.Leu262Phe) http://identifiers.org/clinvar/98078 ^@ NM_000021.3(PSEN1):c.787T>C (p.Cys263Arg) http://identifiers.org/clinvar/98079 ^@ NM_000021.3(PSEN1):c.788G>T (p.Cys263Phe) http://identifiers.org/clinvar/98080 ^@ NM_000021.3(PSEN1):c.791C>T (p.Pro264Leu) http://identifiers.org/clinvar/98081 ^@ NM_000021.3(PSEN1):c.800C>T (p.Pro267Leu) http://identifiers.org/clinvar/98082 ^@ NM_000021.3(PSEN1):c.805C>G (p.Arg269Gly) http://identifiers.org/clinvar/98083 ^@ NM_000021.3(PSEN1):c.815T>C (p.Val272Ala) http://identifiers.org/clinvar/98084 ^@ NM_000021.3(PSEN1):c.818A>C (p.Glu273Ala) http://identifiers.org/clinvar/98085 ^@ NM_000021.3(PSEN1):c.821C>G (p.Thr274Arg) http://identifiers.org/clinvar/98086 ^@ NM_000021.3(PSEN1):c.834A>C (p.Arg278Ser) http://identifiers.org/clinvar/98087 ^@ NM_000021.3(PSEN1):c.844C>G (p.Leu282Val) http://identifiers.org/clinvar/98088 ^@ NM_000021.3(PSEN1):c.845T>G (p.Leu282Arg) http://identifiers.org/clinvar/98089 ^@ NM_000021.3(PSEN1):c.850C>T (p.Pro284Ser) http://identifiers.org/clinvar/98090 ^@ NM_000021.3(PSEN1):c.851C>T (p.Pro284Leu) http://identifiers.org/clinvar/98091 ^@ NM_000021.3(PSEN1):c.854C>T (p.Ala285Val) http://identifiers.org/clinvar/98092 ^@ NM_000021.3(PSEN1):c.869-1G>T http://identifiers.org/clinvar/98093 ^@ NM_000021.3(PSEN1):c.871A>C (p.Thr291Pro) http://identifiers.org/clinvar/98094 ^@ NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) http://identifiers.org/clinvar/98095 ^@ NM_000021.3(PSEN1):c.1053_1055dupTCG (p.Arg352_Ser353insArg) http://identifiers.org/clinvar/98096 ^@ NM_000021.3(PSEN1):c.1061C>T (p.Thr354Ile) http://identifiers.org/clinvar/98097 ^@ NM_000021.3(PSEN1):c.1073G>A (p.Arg358Gln) http://identifiers.org/clinvar/98098 ^@ NM_000021.3(PSEN1):c.1094C>A (p.Ser365Tyr) http://identifiers.org/clinvar/98099 ^@ NM_000021.3(PSEN1):c.1130G>T (p.Arg377Met) http://identifiers.org/clinvar/98100 ^@ NM_000021.3(PSEN1):c.1133G>T (p.Gly378Val) http://identifiers.org/clinvar/98101 ^@ NM_000021.3(PSEN1):c.1141C>G (p.Leu381Val) http://identifiers.org/clinvar/98102 ^@ NM_000021.3(PSEN1):c.1151G>C (p.Gly384Ala) http://identifiers.org/clinvar/98103 ^@ NM_000021.3(PSEN1):c.1157T>C (p.Phe386Ser) http://identifiers.org/clinvar/98104 ^@ NM_000021.3(PSEN1):c.1169G>T (p.Ser390Ile) http://identifiers.org/clinvar/98105 ^@ NM_000021.3(PSEN1):c.1171G>T (p.Val391Phe) http://identifiers.org/clinvar/98106 ^@ NM_000021.3(PSEN1):c.1174C>G (p.Leu392Val) http://identifiers.org/clinvar/98107 ^@ NM_000021.3(PSEN1):c.1181G>T (p.Gly394Val) http://identifiers.org/clinvar/98108 ^@ NM_000021.3(PSEN1):c.1214A>G (p.Asn405Ser) http://identifiers.org/clinvar/98109 ^@ NM_000021.3(PSEN1):c.1225G>A (p.Ala409Thr) http://identifiers.org/clinvar/98110 ^@ NM_000021.3(PSEN1):c.1254G>T (p.Leu418Phe) http://identifiers.org/clinvar/98111 ^@ NM_000021.3(PSEN1):c.1259T>G (p.Leu420Arg) http://identifiers.org/clinvar/98112 ^@ NM_000021.3(PSEN1):c.1271T>G (p.Leu424Arg) http://identifiers.org/clinvar/98113 ^@ NM_000021.3(PSEN1):c.1292C>T (p.Ala431Val) http://identifiers.org/clinvar/98114 ^@ NM_000021.3(PSEN1):c.1303C>T (p.Leu435Phe) http://identifiers.org/clinvar/98115 ^@ NM_000021.3(PSEN1):c.1306C>T (p.Pro436Ser) http://identifiers.org/clinvar/98116 ^@ NM_000021.3(PSEN1):c.1315A>G (p.Ile439Val) http://identifiers.org/clinvar/98117 ^@ NM_000021.3(PSEN1):c.1318_1320delACC (p.Thr440del) http://identifiers.org/clinvar/98118 ^@ NM_002087.3(GRN):c.-8+3A>T http://identifiers.org/clinvar/98119 ^@ NM_002087.3(GRN):c.-8+5G>C http://identifiers.org/clinvar/98120 ^@ NM_002087.3(GRN):c.55C>T (p.Arg19Trp) http://identifiers.org/clinvar/98121 ^@ NM_002087.3(GRN):c.63_64insC (p.Asp22Argfs) http://identifiers.org/clinvar/98122 ^@ NM_002087.3(GRN):c.87_90dupCTGC (p.Cys31Leufs) http://identifiers.org/clinvar/98123 ^@ NM_002087.3(GRN):c.99C>T (p.Asp33=) http://identifiers.org/clinvar/98124 ^@ NM_002087.3(GRN):c.102C>T (p.Pro34=) http://identifiers.org/clinvar/98125 ^@ NM_002087.3(GRN):c.102delC (p.Gly35Glufs) http://identifiers.org/clinvar/98126 ^@ NM_002087.3(GRN):c.138+1G>A http://identifiers.org/clinvar/98127 ^@ NM_002087.3(GRN):c.154delA (p.Thr52Hisfs) http://identifiers.org/clinvar/98128 ^@ NM_002087.3(GRN):c.158T>C (p.Leu53Pro) http://identifiers.org/clinvar/98129 ^@ NM_002087.3(GRN):c.243delC (p.Ser82Valfs) http://identifiers.org/clinvar/98130 ^@ NM_002087.3(GRN):c.264G>A (p.Glu88=) http://identifiers.org/clinvar/98131 ^@ NM_002087.3(GRN):c.279G>A (p.Gly93=) http://identifiers.org/clinvar/98132 ^@ NM_002087.3(GRN):c.313T>C (p.Cys105Arg) http://identifiers.org/clinvar/98133 ^@ NM_002087.3(GRN):c.317G>A (p.Ser106Asn) http://identifiers.org/clinvar/98134 ^@ NM_002087.3(GRN):c.328C>T (p.Arg110Ter) http://identifiers.org/clinvar/98135 ^@ NM_002087.3(GRN):c.359C>A (p.Ser120Tyr) http://identifiers.org/clinvar/98136 ^@ NM_002087.3(GRN):c.361delG (p.Val121Trpfs) http://identifiers.org/clinvar/98137 ^@ NM_002087.3(GRN):c.384T>C (p.Asp128=) http://identifiers.org/clinvar/98138 ^@ NM_002087.3(GRN):c.384_387delTAGT (p.Gln130Serfs) http://identifiers.org/clinvar/98140 ^@ NM_002087.3(GRN):c.421G>A (p.Val141Ile) http://identifiers.org/clinvar/98141 ^@ NM_002087.3(GRN):c.463-1G>A http://identifiers.org/clinvar/98142 ^@ NM_002087.3(GRN):c.468_474delCTGCTGT (p.Cys157Lysfs) http://identifiers.org/clinvar/98143 ^@ NM_002087.3(GRN):c.473G>A (p.Cys158Tyr) http://identifiers.org/clinvar/98144 ^@ NM_002087.3(GRN):c.545C>T (p.Thr182Met) http://identifiers.org/clinvar/98145 ^@ NM_002087.3(GRN):c.635G>A (p.Arg212Gln) http://identifiers.org/clinvar/98146 ^@ NM_002087.3(GRN):c.658A>T (p.Thr220Ser) http://identifiers.org/clinvar/98147 ^@ NM_002087.3(GRN):c.698C>A (p.Pro233Gln) http://identifiers.org/clinvar/98148 ^@ NM_002087.3(GRN):c.708C>T (p.Asn236=) http://identifiers.org/clinvar/98149 ^@ NM_002087.3(GRN):c.708+1G>C http://identifiers.org/clinvar/98150 ^@ NM_002087.3(GRN):c.709-2A>G http://identifiers.org/clinvar/98151 ^@ NM_002087.3(GRN):c.743C>T (p.Pro248Leu) http://identifiers.org/clinvar/98152 ^@ NM_002087.3(GRN):c.759_760delTG (p.Cys253Terfs) http://identifiers.org/clinvar/98153 ^@ NM_002087.3(GRN):c.773G>A (p.Ser258Asn) http://identifiers.org/clinvar/98154 ^@ NM_002087.3(GRN):c.781C>A (p.Leu261Ile) http://identifiers.org/clinvar/98155 ^@ NM_002087.3(GRN):c.804G>A (p.Thr268=) http://identifiers.org/clinvar/98156 ^@ NM_002087.3(GRN):c.835_835+1insCTGA http://identifiers.org/clinvar/98157 ^@ NM_002087.3(GRN):c.836-1G>C http://identifiers.org/clinvar/98158 ^@ NM_002087.3(GRN):c.861G>C (p.Glu287Asp) http://identifiers.org/clinvar/98159 ^@ NM_002087.3(GRN):c.903G>A (p.Ser301=) http://identifiers.org/clinvar/98160 ^@ NM_002087.3(GRN):c.909delC (p.Trp304Glyfs) http://identifiers.org/clinvar/98161 ^@ NM_002087.3(GRN):c.910_911insTG (p.Trp304Leufs) http://identifiers.org/clinvar/98162 ^@ NM_002087.3(GRN):c.911G>A (p.Trp304Ter) http://identifiers.org/clinvar/98163 ^@ NM_002087.3(GRN):c.933+1G>A http://identifiers.org/clinvar/98164 ^@ NM_002087.3(GRN):c.942C>A (p.Cys314Ter) http://identifiers.org/clinvar/98165 ^@ NM_002087.3(GRN):c.970G>A (p.Ala324Thr) http://identifiers.org/clinvar/98166 ^@ NM_002087.3(GRN):c.996G>A (p.Lys332=) http://identifiers.org/clinvar/98167 ^@ NM_002087.3(GRN):c.998delG (p.Gly333Valfs) http://identifiers.org/clinvar/98168 ^@ NM_002087.3(GRN):c.1009C>T (p.Gln337Ter) http://identifiers.org/clinvar/98169 ^@ NM_002087.3(GRN):c.1144dupA (p.Thr382Asnfs) http://identifiers.org/clinvar/98170 ^@ NM_002087.3(GRN):c.1145delC (p.Thr382Serfs) http://identifiers.org/clinvar/98171 ^@ NM_002087.3(GRN):c.1157G>A (p.Trp386Ter) http://identifiers.org/clinvar/98172 ^@ NM_002087.3(GRN):c.1176A>C (p.Pro392=) http://identifiers.org/clinvar/98173 ^@ NM_002087.3(GRN):c.1201C>T (p.Gln401Ter) http://identifiers.org/clinvar/98174 ^@ NM_002087.3(GRN):c.1231_1232delGT (p.Val411Serfs) http://identifiers.org/clinvar/98175 ^@ NM_002087.3(GRN):c.1231_1232dupGT (p.Ala412Terfs) http://identifiers.org/clinvar/98176 ^@ NM_002087.3(GRN):c.1241G>T (p.Gly414Val) http://identifiers.org/clinvar/98177 ^@ NM_002087.3(GRN):c.1252C>T (p.Arg418Ter) http://identifiers.org/clinvar/98178 ^@ NM_002087.3(GRN):c.1253G>A (p.Arg418Gln) http://identifiers.org/clinvar/98179 ^@ NM_002087.3(GRN):c.1294C>T (p.Arg432Cys) http://identifiers.org/clinvar/98180 ^@ NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) http://identifiers.org/clinvar/98181 ^@ NM_002087.3(GRN):c.1341C>T (p.His447=) http://identifiers.org/clinvar/98182 ^@ NM_002087.3(GRN):c.1373C>T (p.Pro458Leu) http://identifiers.org/clinvar/98183 ^@ NM_002087.3(GRN):c.1395dupC (p.Cys466Leufs) http://identifiers.org/clinvar/98184 ^@ NM_002087.3(GRN):c.1402C>T (p.Gln468Ter) http://identifiers.org/clinvar/98185 ^@ NM_002087.3(GRN):c.1409C>T (p.Pro470Leu) http://identifiers.org/clinvar/98186 ^@ NM_002087.3(GRN):c.1422C>T (p.Cys474=) http://identifiers.org/clinvar/98187 ^@ NM_002087.3(GRN):c.1425C>T (p.Cys475=) http://identifiers.org/clinvar/98188 ^@ NM_002087.3(GRN):c.1485C>T (p.Cys495=) http://identifiers.org/clinvar/98189 ^@ NM_002087.3(GRN):c.1544G>C (p.Gly515Ala) http://identifiers.org/clinvar/98190 ^@ NM_002087.3(GRN):c.1623G>C (p.Trp541Cys) http://identifiers.org/clinvar/98191 ^@ NM_002087.3(GRN):c.1648G>A (p.Val550Ile) http://identifiers.org/clinvar/98192 ^@ NM_002087.3(GRN):c.1666C>T (p.Arg556Cys) http://identifiers.org/clinvar/98193 ^@ NM_002087.3(GRN):c.1695C>T (p.Cys565=) http://identifiers.org/clinvar/98194 ^@ NM_016835.4(MAPT):c.54C>T (p.Tyr18=) http://identifiers.org/clinvar/98195 ^@ NM_016835.4(MAPT):c.117G>A (p.Thr39=) http://identifiers.org/clinvar/98196 ^@ NM_016835.4(MAPT):c.256G>A (p.Gly86Ser) http://identifiers.org/clinvar/98197 ^@ NM_001123066.3(MAPT):c.689A>G (p.Gln230Arg) http://identifiers.org/clinvar/98198 ^@ NM_001123066.3(MAPT):c.853G>A (p.Asp285Asn) http://identifiers.org/clinvar/98199 ^@ NM_001123066.3(MAPT):c.855C>T (p.Asp285=) http://identifiers.org/clinvar/98200 ^@ NM_001123066.3(MAPT):c.866T>C (p.Val289Ala) http://identifiers.org/clinvar/98201 ^@ NM_016835.4(MAPT):c.1107C>T (p.Ser369=) http://identifiers.org/clinvar/98202 ^@ NM_001123066.3(MAPT):c.1321T>C (p.Tyr441His) http://identifiers.org/clinvar/98203 ^@ NM_001123066.3(MAPT):c.1339T>C (p.Ser447Pro) http://identifiers.org/clinvar/98204 ^@ NM_001123066.3(MAPT):c.1479G>A (p.Pro493=) http://identifiers.org/clinvar/98205 ^@ NM_001123066.3(MAPT):c.1483G>A (p.Ala495Thr) http://identifiers.org/clinvar/98206 ^@ NM_001123066.3(MAPT):c.1512T>C (p.Thr504=) http://identifiers.org/clinvar/98207 ^@ NM_001123066.3(MAPT):c.1686A>G (p.Ala562=) http://identifiers.org/clinvar/98208 ^@ NM_005910.5(MAPT):c.715G>A (p.Ala239Thr) http://identifiers.org/clinvar/98209 ^@ NM_001123066.3(MAPT):c.1770T>C (p.Asn590=) http://identifiers.org/clinvar/98210 ^@ NM_016835.4(MAPT):c.1729A>G (p.Ile577Val) http://identifiers.org/clinvar/98211 ^@ NM_001123066.3(MAPT):c.1815G>A (p.Pro605=) http://identifiers.org/clinvar/98212 ^@ NM_016835.4(MAPT):c.1774-10G>T http://identifiers.org/clinvar/98213 ^@ NM_016835.4(MAPT):c.1792_1794delAAG (p.Lys598del) http://identifiers.org/clinvar/98214 ^@ NM_016835.4(MAPT):c.1803T>C (p.Leu601=) http://identifiers.org/clinvar/98215 ^@ NM_016835.4(MAPT):c.1837A>C (p.Asn613His) http://identifiers.org/clinvar/98216 ^@ NM_005910.5(MAPT):c.903G>A (p.Pro301=) http://identifiers.org/clinvar/98217 ^@ NM_016835.4(MAPT):c.1866T>C (p.Ser622=) http://identifiers.org/clinvar/98218 ^@ NM_016835.4(MAPT):c.1866+3G>A http://identifiers.org/clinvar/98219 ^@ NM_016835.4(MAPT):c.1866+11T>C http://identifiers.org/clinvar/98220 ^@ NM_016835.4(MAPT):c.1866+12C>T http://identifiers.org/clinvar/98221 ^@ NM_016835.4(MAPT):c.1866+13A>G http://identifiers.org/clinvar/98222 ^@ NM_016835.4(MAPT):c.1866+16C>T http://identifiers.org/clinvar/98223 ^@ NM_016835.4(MAPT):c.1866+19C>G http://identifiers.org/clinvar/98224 ^@ NM_016835.4(MAPT):c.1866+25C>T http://identifiers.org/clinvar/98225 ^@ NM_016835.4(MAPT):c.1866+29G>A http://identifiers.org/clinvar/98226 ^@ NM_016835.4(MAPT):c.1895T>G (p.Leu632Arg) http://identifiers.org/clinvar/98227 ^@ NM_016835.4(MAPT):c.1896G>A (p.Leu632=) http://identifiers.org/clinvar/98228 ^@ NM_016835.4(MAPT):c.1954G>A (p.Gly652Ser) http://identifiers.org/clinvar/98229 ^@ NM_016835.4(MAPT):c.1955G>T (p.Gly652Val) http://identifiers.org/clinvar/98230 ^@ NM_016835.4(MAPT):c.1958A>G (p.Gln653Arg) http://identifiers.org/clinvar/98231 ^@ NM_016835.4(MAPT):c.2038G>A (p.Val680Ile) http://identifiers.org/clinvar/98232 ^@ NM_016835.4(MAPT):c.2116G>C (p.Gly706Arg) http://identifiers.org/clinvar/98233 ^@ NM_016835.4(MAPT):c.2221C>A (p.Gln741Lys) http://identifiers.org/clinvar/98234 ^@ NM_016835.4(MAPT):c.2231C>T (p.Thr744Met) http://identifiers.org/clinvar/98235 ^@ NM_000484.3(APP):c.2030A>G (p.His677Arg) http://identifiers.org/clinvar/98236 ^@ NM_000484.3(APP):c.2032G>A (p.Asp678Asn) http://identifiers.org/clinvar/98237 ^@ NM_000484.3(APP):c.2138C>T (p.Ala713Val) http://identifiers.org/clinvar/98238 ^@ NM_000484.3(APP):c.2144T>C (p.Val715Ala) http://identifiers.org/clinvar/98239 ^@ NM_000484.3(APP):c.2145G>A (p.Val715=) http://identifiers.org/clinvar/98240 ^@ NM_000484.3(APP):c.2147T>C (p.Ile716Thr) http://identifiers.org/clinvar/98241 ^@ NM_000484.3(APP):c.2168T>C (p.Leu723Pro) http://identifiers.org/clinvar/98242 ^@ NM_000484.3(APP):c.2172G>C (p.Lys724Asn) http://identifiers.org/clinvar/98243 ^@ NM_016835.4(MAPT):c.1838_1840delATA (p.Asn613del) http://identifiers.org/clinvar/98244 ^@ NM_001123066.3(MAPT):c.605C>T (p.Pro202Leu) http://identifiers.org/clinvar/98245 ^@ NM_002087.3(GRN):c.380_381delCT (p.Pro127Argfs) http://identifiers.org/clinvar/98246 ^@ NM_002087.3(GRN):c.675_676delCA (p.Ser226Trpfs) http://identifiers.org/clinvar/98247 ^@ NM_002087.3(GRN):c.1095_1096delCT (p.Cys366Terfs) http://identifiers.org/clinvar/98248 ^@ NM_002087.3(GRN):c.234_235delAG (p.Gly79Aspfs) http://identifiers.org/clinvar/98300 ^@ NM_000744.6(CHRNA4):c.1001C>T (p.Ser334Leu) http://identifiers.org/clinvar/98301 ^@ NM_000744.6(CHRNA4):c.1002G>A (p.Ser334=) http://identifiers.org/clinvar/98302 ^@ NM_000744.6(CHRNA4):c.1054G>A (p.Val352Met) http://identifiers.org/clinvar/98303 ^@ NM_000744.6(CHRNA4):c.1066C>T (p.Leu356Phe) http://identifiers.org/clinvar/98304 ^@ NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met) http://identifiers.org/clinvar/98305 ^@ NM_000744.6(CHRNA4):c.1109G>A (p.Arg370Gln) http://identifiers.org/clinvar/98306 ^@ NM_000744.6(CHRNA4):c.1169G>A (p.Gly390Glu) http://identifiers.org/clinvar/98307 ^@ NM_000744.6(CHRNA4):c.1184C>T (p.Thr395Met) http://identifiers.org/clinvar/98308 ^@ NM_000744.6(CHRNA4):c.1200C>T (p.Ser400=) http://identifiers.org/clinvar/98309 ^@ NM_000744.6(CHRNA4):c.1224C>T (p.Phe408=) http://identifiers.org/clinvar/98310 ^@ NM_000744.6(CHRNA4):c.1228G>A (p.Val410Ile) http://identifiers.org/clinvar/98311 ^@ NM_000744.6(CHRNA4):c.1265G>A (p.Cys422Tyr) http://identifiers.org/clinvar/98312 ^@ NM_000744.6(CHRNA4):c.1266C>T (p.Cys422=) http://identifiers.org/clinvar/98313 ^@ NM_000744.6(CHRNA4):c.1311T>C (p.Ala437=) http://identifiers.org/clinvar/98314 ^@ NM_000744.6(CHRNA4):c.1359C>T (p.His453=) http://identifiers.org/clinvar/98315 ^@ NM_000744.6(CHRNA4):c.1373C>T (p.Pro458Leu) http://identifiers.org/clinvar/98316 ^@ NM_000744.6(CHRNA4):c.1402G>A (p.Val468Ile) http://identifiers.org/clinvar/98317 ^@ NM_000744.6(CHRNA4):c.1425C>T (p.Gly475=) http://identifiers.org/clinvar/98318 ^@ NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) http://identifiers.org/clinvar/98319 ^@ NM_000744.6(CHRNA4):c.1625C>T (p.Pro542Leu) http://identifiers.org/clinvar/98320 ^@ NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) http://identifiers.org/clinvar/98321 ^@ NM_000744.6(CHRNA4):c.1635G>A (p.Thr545=) http://identifiers.org/clinvar/98322 ^@ NM_000744.6(CHRNA4):c.1662G>A (p.Pro554=) http://identifiers.org/clinvar/98323 ^@ NM_000744.6(CHRNA4):c.1711G>A (p.Val571Ile) http://identifiers.org/clinvar/98324 ^@ NM_000744.6(CHRNA4):c.442C>T (p.Arg148Trp) http://identifiers.org/clinvar/98325 ^@ NM_000744.6(CHRNA4):c.461C>T (p.Pro154Leu) http://identifiers.org/clinvar/98326 ^@ NM_000744.6(CHRNA4):c.462G>A (p.Pro154=) http://identifiers.org/clinvar/98327 ^@ NM_000744.6(CHRNA4):c.504C>T (p.Phe168=) http://identifiers.org/clinvar/98328 ^@ NM_000744.6(CHRNA4):c.510C>T (p.Phe170=) http://identifiers.org/clinvar/98329 ^@ NM_000744.6(CHRNA4):c.585C>G (p.His195Gln) http://identifiers.org/clinvar/98330 ^@ NM_000744.6(CHRNA4):c.617G>C (p.Ser206Thr) http://identifiers.org/clinvar/98331 ^@ NM_000744.6(CHRNA4):c.693G>A (p.Pro231=) http://identifiers.org/clinvar/98332 ^@ NM_000744.6(CHRNA4):c.705T>C (p.Tyr235=) http://identifiers.org/clinvar/98333 ^@ NM_000744.6(CHRNA4):c.707C>T (p.Ala236Val) http://identifiers.org/clinvar/98334 ^@ NM_000744.6(CHRNA4):c.729G>A (p.Pro243=) http://identifiers.org/clinvar/98335 ^@ NM_000744.6(CHRNA4):c.753C>T (p.Ile251=) http://identifiers.org/clinvar/98336 ^@ NM_000744.6(CHRNA4):c.775T>C (p.Cys259Arg) http://identifiers.org/clinvar/98337 ^@ NM_000744.6(CHRNA4):c.799C>T (p.Leu267=) http://identifiers.org/clinvar/98338 ^@ NM_000744.6(CHRNA4):c.858C>T (p.Thr286=) http://identifiers.org/clinvar/98339 ^@ NM_000744.6(CHRNA4):c.915C>T (p.Leu305=) http://identifiers.org/clinvar/98340 ^@ NM_000744.6(CHRNA4):c.948C>T (p.Phe316=) http://identifiers.org/clinvar/98341 ^@ NM_000744.6(CHRNA4):c.953C>T (p.Thr318Ile) http://identifiers.org/clinvar/98342 ^@ NM_018662.2(DISC1):c.54G>A (p.Val18=) http://identifiers.org/clinvar/98343 ^@ NM_018662.2(DISC1):c.340A>T (p.Thr114Ser) http://identifiers.org/clinvar/98344 ^@ NM_018662.2(DISC1):c.472G>A (p.Ala158Thr) http://identifiers.org/clinvar/98345 ^@ NM_018662.2(DISC1):c.768C>T (p.His256=) http://identifiers.org/clinvar/98346 ^@ NM_018662.2(DISC1):c.791G>A (p.Arg264Gln) http://identifiers.org/clinvar/98347 ^@ NM_018662.2(DISC1):c.841G>A (p.Ala281Thr) http://identifiers.org/clinvar/98348 ^@ NM_018662.2(DISC1):c.1286C>G (p.Thr429Ser) http://identifiers.org/clinvar/98349 ^@ NM_018662.2(DISC1):c.1291A>G (p.Thr431Ala) http://identifiers.org/clinvar/98350 ^@ NM_018662.2(DISC1):c.1363C>T (p.Arg455Ter) http://identifiers.org/clinvar/98351 ^@ NM_018662.2(DISC1):c.1401A>G (p.Lys467=) http://identifiers.org/clinvar/98352 ^@ NM_018662.2(DISC1):c.1518A>G (p.Pro506=) http://identifiers.org/clinvar/98353 ^@ NM_018662.2(DISC1):c.1718C>T (p.Thr573Ile) http://identifiers.org/clinvar/98354 ^@ NM_018662.2(DISC1):c.1729A>G (p.Lys577Glu) http://identifiers.org/clinvar/98355 ^@ NM_018662.2(DISC1):c.1819C>T (p.Leu607Phe) http://identifiers.org/clinvar/98356 ^@ NM_018662.2(DISC1):c.2063G>A (p.Gly688Glu) http://identifiers.org/clinvar/98357 ^@ NM_018662.2(DISC1):c.2157G>A (p.Glu719=) http://identifiers.org/clinvar/98358 ^@ NM_018662.2(DISC1):c.2215G>A (p.Glu739Lys) http://identifiers.org/clinvar/98359 ^@ NM_018662.2(DISC1):c.2221A>G (p.Lys741Glu) http://identifiers.org/clinvar/98360 ^@ NM_018662.2(DISC1):c.2295T>A (p.Gly765=) http://identifiers.org/clinvar/98361 ^@ NM_018662.2(DISC1):c.2543G>A (p.Gly848Asp) http://identifiers.org/clinvar/98362 ^@ NM_018662.2(DISC1):c.2550C>T (p.His850=) http://identifiers.org/clinvar/98363 ^@ NM_206876.1(PPP1CB):c.6G>A (p.Ala2=) http://identifiers.org/clinvar/98364 ^@ NM_206876.1(PPP1CB):c.10G>A (p.Gly4Arg) http://identifiers.org/clinvar/98365 ^@ NM_206876.1(PPP1CB):c.114T>C (p.Cys38=) http://identifiers.org/clinvar/98366 ^@ NM_001135179.1(ZDHHC3):c.617G>C (p.Ser206Thr) http://identifiers.org/clinvar/98367 ^@ NM_001135179.1(ZDHHC3):c.147C>T (p.Ile49=) http://identifiers.org/clinvar/98368 ^@ NM_001135179.1(ZDHHC3):c.86A>G (p.Tyr29Cys) http://identifiers.org/clinvar/98369 ^@ NM_002037.5(FYN):c.1347G>A (p.Val449=) http://identifiers.org/clinvar/98370 ^@ NM_002037.5(FYN):c.984G>A (p.Gln328=) http://identifiers.org/clinvar/98371 ^@ NM_002037.5(FYN):c.944C>G (p.Ala315Gly) http://identifiers.org/clinvar/98372 ^@ NM_153047.3(FYN):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/98373 ^@ NM_002037.5(FYN):c.573T>C (p.Asp191=) http://identifiers.org/clinvar/98374 ^@ NM_002037.5(FYN):c.333A>G (p.Ile111Met) http://identifiers.org/clinvar/98375 ^@ NM_032122.4(DTNBP1):c.1020G>C (p.Glu340Asp) http://identifiers.org/clinvar/98376 ^@ NM_032122.4(DTNBP1):c.1019A>G (p.Glu340Gly) http://identifiers.org/clinvar/98377 ^@ NM_032122.4(DTNBP1):c.950C>G (p.Pro317Arg) http://identifiers.org/clinvar/98378 ^@ NM_032122.4(DTNBP1):c.654T>G (p.Ile218Met) http://identifiers.org/clinvar/98379 ^@ NM_032122.4(DTNBP1):c.324C>T (p.Ile108=) http://identifiers.org/clinvar/98380 ^@ NM_013962.2(NRG1):c.11G>A (p.Arg4Gln) http://identifiers.org/clinvar/98381 ^@ NM_013962.2(NRG1):c.11G>C (p.Arg4Pro) http://identifiers.org/clinvar/98382 ^@ NM_013962.2(NRG1):c.26G>A (p.Arg9His) http://identifiers.org/clinvar/98383 ^@ NM_013962.2(NRG1):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/98384 ^@ NM_013962.2(NRG1):c.108G>A (p.Leu36=) http://identifiers.org/clinvar/98385 ^@ NM_013962.2(NRG1):c.123C>A (p.Thr41=) http://identifiers.org/clinvar/98386 ^@ NM_013962.2(NRG1):c.191C>T (p.Ser64Leu) http://identifiers.org/clinvar/98387 ^@ NM_013962.2(NRG1):c.312G>A (p.Ala104=) http://identifiers.org/clinvar/98388 ^@ NM_013962.2(NRG1):c.350C>T (p.Pro117Leu) http://identifiers.org/clinvar/98389 ^@ NM_013962.2(NRG1):c.360G>T (p.Ala120=) http://identifiers.org/clinvar/98390 ^@ NM_001160002.1(NRG1):c.30A>C (p.Lys10Asn) http://identifiers.org/clinvar/98391 ^@ NM_013962.2(NRG1):c.785C>T (p.Ser262Leu) http://identifiers.org/clinvar/98392 ^@ NM_001159996.1(NRG1):c.217A>G (p.Met73Val) http://identifiers.org/clinvar/98393 ^@ NM_001159995.1(NRG1):c.720G>T (p.Lys240Asn) http://identifiers.org/clinvar/98394 ^@ NM_001159995.1(NRG1):c.736C>G (p.Arg246Gly) http://identifiers.org/clinvar/98395 ^@ NM_001159995.1(NRG1):c.758G>A (p.Arg253Gln) http://identifiers.org/clinvar/98396 ^@ NM_001159995.1(NRG1):c.794A>G (p.His265Arg) http://identifiers.org/clinvar/98397 ^@ NM_001159995.1(NRG1):c.906T>C (p.Ser302=) http://identifiers.org/clinvar/98398 ^@ NM_001159995.1(NRG1):c.1223C>T (p.Thr408Met) http://identifiers.org/clinvar/98399 ^@ NM_001159995.1(NRG1):c.1439C>T (p.Pro480Leu) http://identifiers.org/clinvar/98400 ^@ NM_007327.3(GRIN1):c.813C>T (p.Leu271=) http://identifiers.org/clinvar/98401 ^@ NM_007327.3(GRIN1):c.1325C>T (p.Thr442Met) http://identifiers.org/clinvar/98402 ^@ NM_007327.3(GRIN1):c.1866C>A (p.Gly622=) http://identifiers.org/clinvar/98403 ^@ NM_007327.3(GRIN1):c.2064C>G (p.Ser688=) http://identifiers.org/clinvar/98404 ^@ NM_007327.3(GRIN1):c.2214C>T (p.Phe738=) http://identifiers.org/clinvar/98405 ^@ NM_007327.3(GRIN1):c.2445G>A (p.Gly815=) http://identifiers.org/clinvar/98406 ^@ NM_007327.3(GRIN1):c.2563G>A (p.Val855Ile) http://identifiers.org/clinvar/98407 ^@ NM_007327.3(GRIN1):c.2637A>G (p.Thr879=) http://identifiers.org/clinvar/98408 ^@ NM_001039970.1(PTPN5):c.1488G>A (p.Thr496=) http://identifiers.org/clinvar/98409 ^@ NM_001039970.1(PTPN5):c.1242T>A (p.Thr414=) http://identifiers.org/clinvar/98410 ^@ NM_001039970.1(PTPN5):c.1235G>A (p.Ser412Asn) http://identifiers.org/clinvar/98411 ^@ NM_001039970.1(PTPN5):c.1157C>T (p.Ala386Val) http://identifiers.org/clinvar/98412 ^@ NM_001039970.1(PTPN5):c.1107C>T (p.Ile369=) http://identifiers.org/clinvar/98413 ^@ NM_001039970.1(PTPN5):c.989A>G (p.Tyr330Cys) http://identifiers.org/clinvar/98414 ^@ NM_001039970.1(PTPN5):c.770A>G (p.Glu257Gly) http://identifiers.org/clinvar/98415 ^@ NM_001039970.1(PTPN5):c.712C>T (p.Arg238Cys) http://identifiers.org/clinvar/98416 ^@ NM_001039970.1(PTPN5):c.672G>A (p.Pro224=) http://identifiers.org/clinvar/98417 ^@ NM_001039970.1(PTPN5):c.531C>T (p.Asp177=) http://identifiers.org/clinvar/98418 ^@ NM_001039970.1(PTPN5):c.507C>T (p.Ile169=) http://identifiers.org/clinvar/98419 ^@ NM_001039970.1(PTPN5):c.371T>C (p.Val124Ala) http://identifiers.org/clinvar/98420 ^@ NM_001039970.1(PTPN5):c.132C>T (p.Asp44=) http://identifiers.org/clinvar/98421 ^@ NM_001039970.1(PTPN5):c.116T>C (p.Val39Ala) http://identifiers.org/clinvar/98422 ^@ NM_001039970.1(PTPN5):c.111G>A (p.Pro37=) http://identifiers.org/clinvar/98423 ^@ NM_001039970.1(PTPN5):c.103C>A (p.Pro35Thr) http://identifiers.org/clinvar/98424 ^@ NM_001008709.1(PPP1CA):c.519G>A (p.Ala173=) http://identifiers.org/clinvar/98425 ^@ NM_001008709.1(PPP1CA):c.441C>T (p.Phe147=) http://identifiers.org/clinvar/98426 ^@ NM_001008709.1(PPP1CA):c.319A>C (p.Arg107=) http://identifiers.org/clinvar/98427 ^@ NM_001244974.1(PPP1CC):c.963G>A (p.Pro321=) http://identifiers.org/clinvar/98428 ^@ NM_002710.3(PPP1CC):c.76A>G (p.Lys26Glu) http://identifiers.org/clinvar/98429 ^@ NM_002710.3(PPP1CC):c.6G>T (p.Ala2=) http://identifiers.org/clinvar/98430 ^@ NM_000834.3(GRIN2B):c.4240G>T (p.Ala1414Ser) http://identifiers.org/clinvar/98431 ^@ NM_000834.3(GRIN2B):c.4218C>T (p.Phe1406=) http://identifiers.org/clinvar/98432 ^@ NM_000834.3(GRIN2B):c.4197T>C (p.His1399=) http://identifiers.org/clinvar/98433 ^@ NM_000834.3(GRIN2B):c.3648C>T (p.Arg1216=) http://identifiers.org/clinvar/98434 ^@ NM_000834.3(GRIN2B):c.3562G>A (p.Gly1188Ser) http://identifiers.org/clinvar/98435 ^@ NM_000834.3(GRIN2B):c.2712G>A (p.Thr904=) http://identifiers.org/clinvar/98436 ^@ NM_000834.3(GRIN2B):c.2691C>T (p.Asn897=) http://identifiers.org/clinvar/98437 ^@ NM_000834.3(GRIN2B):c.2664C>T (p.Thr888=) http://identifiers.org/clinvar/98438 ^@ NM_000834.3(GRIN2B):c.2313G>A (p.Gly771=) http://identifiers.org/clinvar/98439 ^@ NM_000834.3(GRIN2B):c.1833T>C (p.Gly611=) http://identifiers.org/clinvar/98440 ^@ NM_000834.3(GRIN2B):c.1341C>T (p.Asp447=) http://identifiers.org/clinvar/98441 ^@ NM_000834.3(GRIN2B):c.465C>A (p.Ser155=) http://identifiers.org/clinvar/98442 ^@ NM_000834.3(GRIN2B):c.15G>A (p.Ala5=) http://identifiers.org/clinvar/98443 ^@ NM_000834.3(GRIN2B):c.14C>T (p.Ala5Val) http://identifiers.org/clinvar/98444 ^@ NM_172370.4(DAOA):c.89G>A (p.Arg30Lys) http://identifiers.org/clinvar/98445 ^@ NM_172370.4(DAOA):c.126C>G (p.Asn42Lys) http://identifiers.org/clinvar/98446 ^@ NM_001161814.1(DAOA):c.40G>T (p.Val14Phe) http://identifiers.org/clinvar/98447 ^@ NM_001161814.1(DAOA):c.58C>T (p.Pro20Ser) http://identifiers.org/clinvar/98448 ^@ NM_001161814.1(DAOA):c.221A>G (p.Lys74Arg) http://identifiers.org/clinvar/98449 ^@ NM_000833.4(GRIN2A):c.989C>T (p.Pro330Leu) http://identifiers.org/clinvar/98450 ^@ NM_000833.4(GRIN2A):c.909A>G (p.Ala303=) http://identifiers.org/clinvar/98451 ^@ NM_000833.4(GRIN2A):c.810A>G (p.Lys270=) http://identifiers.org/clinvar/98452 ^@ NM_000833.4(GRIN2A):c.730C>T (p.Arg244Cys) http://identifiers.org/clinvar/98453 ^@ NM_000833.4(GRIN2A):c.623C>T (p.Thr208Ile) http://identifiers.org/clinvar/98454 ^@ NM_000833.4(GRIN2A):c.426T>G (p.Ser142=) http://identifiers.org/clinvar/98455 ^@ NM_000833.4(GRIN2A):c.420G>A (p.Pro140=) http://identifiers.org/clinvar/98456 ^@ NM_000833.4(GRIN2A):c.264C>T (p.Asp88=) http://identifiers.org/clinvar/98457 ^@ NM_000833.4(GRIN2A):c.205G>A (p.Val69Met) http://identifiers.org/clinvar/98458 ^@ NM_000833.4(GRIN2A):c.80C>T (p.Ala27Val) http://identifiers.org/clinvar/98459 ^@ NM_000833.4(GRIN2A):c.60T>C (p.Gly20=) http://identifiers.org/clinvar/98460 ^@ NM_000833.4(GRIN2A):c.38C>T (p.Pro13Leu) http://identifiers.org/clinvar/98461 ^@ NM_000833.4(GRIN2A):c.3854G>A (p.Arg1285Lys) http://identifiers.org/clinvar/98462 ^@ NM_000833.4(GRIN2A):c.3700T>G (p.Phe1234Val) http://identifiers.org/clinvar/98463 ^@ NM_000833.4(GRIN2A):c.3647G>C (p.Ser1216Thr) http://identifiers.org/clinvar/98464 ^@ NM_000833.4(GRIN2A):c.3413A>T (p.Asn1138Ile) http://identifiers.org/clinvar/98465 ^@ NM_000833.4(GRIN2A):c.2657A>G (p.Asn886Ser) http://identifiers.org/clinvar/98466 ^@ NM_000833.4(GRIN2A):c.2639A>G (p.Lys880Arg) http://identifiers.org/clinvar/98467 ^@ NM_000833.4(GRIN2A):c.2202C>G (p.Val734=) http://identifiers.org/clinvar/98468 ^@ NM_000833.4(GRIN2A):c.2199A>G (p.Ala733=) http://identifiers.org/clinvar/98469 ^@ NM_000833.4(GRIN2A):c.1780C>T (p.Pro594Ser) http://identifiers.org/clinvar/98470 ^@ NM_000833.4(GRIN2A):c.1749A>G (p.Gly583=) http://identifiers.org/clinvar/98471 ^@ NM_000833.4(GRIN2A):c.1698C>T (p.Leu566=) http://identifiers.org/clinvar/98472 ^@ NM_000833.4(GRIN2A):c.1557T>C (p.Ser519=) http://identifiers.org/clinvar/98473 ^@ NM_000833.4(GRIN2A):c.1362A>G (p.Lys454=) http://identifiers.org/clinvar/98474 ^@ NM_000833.4(GRIN2A):c.1340A>T (p.Asn447Ile) http://identifiers.org/clinvar/98475 ^@ NM_000833.4(GRIN2A):c.1161C>T (p.His387=) http://identifiers.org/clinvar/98476 ^@ NM_032192.3(PPP1R1B):c.72G>A (p.Gln24=) http://identifiers.org/clinvar/98477 ^@ NM_032192.3(PPP1R1B):c.86G>A (p.Arg29Gln) http://identifiers.org/clinvar/98478 ^@ NM_032192.3(PPP1R1B):c.393G>A (p.Glu131=) http://identifiers.org/clinvar/98479 ^@ NM_032192.3(PPP1R1B):c.493C>A (p.Arg165Ser) http://identifiers.org/clinvar/98480 ^@ NM_032595.4(PPP1R9B):c.2358G>A (p.Ser786=) http://identifiers.org/clinvar/98481 ^@ NM_032595.4(PPP1R9B):c.2238G>A (p.Ala746=) http://identifiers.org/clinvar/98482 ^@ NM_032595.4(PPP1R9B):c.2199G>T (p.Leu733=) http://identifiers.org/clinvar/98483 ^@ NM_032595.4(PPP1R9B):c.1916C>T (p.Pro639Leu) http://identifiers.org/clinvar/98484 ^@ NM_032595.4(PPP1R9B):c.1590C>T (p.Thr530=) http://identifiers.org/clinvar/98485 ^@ NM_032595.4(PPP1R9B):c.1582G>A (p.Val528Ile) http://identifiers.org/clinvar/98486 ^@ NM_032595.4(PPP1R9B):c.1509C>T (p.Ser503=) http://identifiers.org/clinvar/98487 ^@ NM_032595.4(PPP1R9B):c.1332C>T (p.Ala444=) http://identifiers.org/clinvar/98488 ^@ NM_032595.4(PPP1R9B):c.1137A>G (p.Val379=) http://identifiers.org/clinvar/98489 ^@ NM_032595.4(PPP1R9B):c.1131G>A (p.Glu377=) http://identifiers.org/clinvar/98490 ^@ NM_032595.4(PPP1R9B):c.1112C>T (p.Ala371Val) http://identifiers.org/clinvar/98491 ^@ NM_032595.4(PPP1R9B):c.1092G>A (p.Arg364=) http://identifiers.org/clinvar/98492 ^@ NM_032595.4(PPP1R9B):c.1077A>G (p.Val359=) http://identifiers.org/clinvar/98493 ^@ NM_032595.4(PPP1R9B):c.1074G>C (p.Ala358=) http://identifiers.org/clinvar/98494 ^@ NM_032595.4(PPP1R9B):c.1071G>A (p.Ala357=) http://identifiers.org/clinvar/98495 ^@ NM_032595.4(PPP1R9B):c.1059G>C (p.Glu353Asp) http://identifiers.org/clinvar/98496 ^@ NM_032595.4(PPP1R9B):c.1047A>G (p.Gln349=) http://identifiers.org/clinvar/98497 ^@ NM_032595.4(PPP1R9B):c.815G>C (p.Cys272Ser) http://identifiers.org/clinvar/98498 ^@ NM_032595.4(PPP1R9B):c.777C>G (p.Pro259=) http://identifiers.org/clinvar/98499 ^@ NM_032595.4(PPP1R9B):c.729G>A (p.Leu243=) http://identifiers.org/clinvar/98500 ^@ NM_032595.4(PPP1R9B):c.631C>T (p.Leu211Phe) http://identifiers.org/clinvar/98501 ^@ NM_032595.4(PPP1R9B):c.579C>G (p.Thr193=) http://identifiers.org/clinvar/98502 ^@ NM_032595.4(PPP1R9B):c.513G>A (p.Leu171=) http://identifiers.org/clinvar/98503 ^@ NM_032595.4(PPP1R9B):c.506G>A (p.Arg169Gln) http://identifiers.org/clinvar/98504 ^@ NM_032595.4(PPP1R9B):c.462C>T (p.Ser154=) http://identifiers.org/clinvar/98505 ^@ NM_032595.4(PPP1R9B):c.416A>C (p.His139Pro) http://identifiers.org/clinvar/98506 ^@ NM_032595.4(PPP1R9B):c.336G>A (p.Lys112=) http://identifiers.org/clinvar/98507 ^@ NM_032595.4(PPP1R9B):c.253C>T (p.Arg85Trp) http://identifiers.org/clinvar/98508 ^@ NM_032595.4(PPP1R9B):c.198G>C (p.Thr66=) http://identifiers.org/clinvar/98509 ^@ NM_002739.4(PRKCG):c.534C>T (p.Gly178=) http://identifiers.org/clinvar/98510 ^@ NM_002739.4(PRKCG):c.613C>T (p.Arg205Trp) http://identifiers.org/clinvar/98511 ^@ NM_002739.4(PRKCG):c.683T>C (p.Val228Ala) http://identifiers.org/clinvar/98512 ^@ NM_002739.4(PRKCG):c.714C>T (p.Arg238=) http://identifiers.org/clinvar/98513 ^@ NM_002739.4(PRKCG):c.807G>A (p.Ala269=) http://identifiers.org/clinvar/98514 ^@ NM_002739.4(PRKCG):c.861T>C (p.Asn287=) http://identifiers.org/clinvar/98515 ^@ NM_002739.4(PRKCG):c.862G>A (p.Val288Met) http://identifiers.org/clinvar/98516 ^@ NM_002739.4(PRKCG):c.955C>A (p.Pro319Thr) http://identifiers.org/clinvar/98517 ^@ NM_002739.4(PRKCG):c.1029A>G (p.Pro343=) http://identifiers.org/clinvar/98518 ^@ NM_002739.4(PRKCG):c.1608C>T (p.Val536=) http://identifiers.org/clinvar/98519 ^@ NM_002739.4(PRKCG):c.1746C>T (p.Ala582=) http://identifiers.org/clinvar/98520 ^@ NM_002739.4(PRKCG):c.1862G>A (p.Arg621Gln) http://identifiers.org/clinvar/98521 ^@ NM_002739.4(PRKCG):c.1899C>T (p.Pro633=) http://identifiers.org/clinvar/98522 ^@ NM_002739.4(PRKCG):c.1948G>T (p.Ala650Ser) http://identifiers.org/clinvar/98523 ^@ NM_198291.2(SRC):c.12C>T (p.Asn4=) http://identifiers.org/clinvar/98524 ^@ NM_198291.2(SRC):c.61G>A (p.Ala21Thr) http://identifiers.org/clinvar/98525 ^@ NM_198291.2(SRC):c.85G>T (p.Gly29Trp) http://identifiers.org/clinvar/98526 ^@ NM_198291.2(SRC):c.642C>T (p.Gly214=) http://identifiers.org/clinvar/98527 ^@ NM_198291.2(SRC):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/98528 ^@ NM_198291.2(SRC):c.846C>T (p.Gly282=) http://identifiers.org/clinvar/98529 ^@ NM_198291.2(SRC):c.1200C>T (p.Asn400=) http://identifiers.org/clinvar/98530 ^@ NM_198291.2(SRC):c.1239C>T (p.Leu413=) http://identifiers.org/clinvar/98531 ^@ NM_198291.2(SRC):c.1263G>A (p.Ala421=) http://identifiers.org/clinvar/98532 ^@ NM_198291.2(SRC):c.1323C>A (p.Arg441=) http://identifiers.org/clinvar/98533 ^@ NM_198291.2(SRC):c.1387C>T (p.Arg463Trp) http://identifiers.org/clinvar/98534 ^@ NM_198291.2(SRC):c.1474G>A (p.Glu492Lys) http://identifiers.org/clinvar/98535 ^@ NM_000180.3(GUCY2D):c.1026+171delG http://identifiers.org/clinvar/98536 ^@ NM_000180.3(GUCY2D):c.1052A>G (p.Tyr351Cys) http://identifiers.org/clinvar/98537 ^@ NM_000180.3(GUCY2D):c.1084G>T (p.Ala362Ser) http://identifiers.org/clinvar/98538 ^@ NM_000180.3(GUCY2D):c.121C>T (p.Leu41Phe) http://identifiers.org/clinvar/98539 ^@ NM_000180.3(GUCY2D):c.1236C>T (p.Asp412=) http://identifiers.org/clinvar/98540 ^@ NM_000180.3(GUCY2D):c.1343C>A (p.Ser448Ter) http://identifiers.org/clinvar/98541 ^@ NM_000180.3(GUCY2D):c.1379-28A>G http://identifiers.org/clinvar/98542 ^@ NM_000180.3(GUCY2D):c.1424_1431dupGGATGGGG (p.Leu478Glyfs) http://identifiers.org/clinvar/98543 ^@ NM_000180.3(GUCY2D):c.1537C>T (p.Leu513Phe) http://identifiers.org/clinvar/98544 ^@ NM_000180.3(GUCY2D):c.1566+2T>C http://identifiers.org/clinvar/98545 ^@ NM_000180.3(GUCY2D):c.1615A>G (p.Ile539Val) http://identifiers.org/clinvar/98546 ^@ NM_000180.3(GUCY2D):c.1618C>T (p.Arg540Cys) http://identifiers.org/clinvar/98547 ^@ NM_000180.3(GUCY2D):c.1717A>G (p.Ile573Val) http://identifiers.org/clinvar/98548 ^@ NM_000180.3(GUCY2D):c.1724C>T (p.Pro575Leu) http://identifiers.org/clinvar/98549 ^@ NM_000180.3(GUCY2D):c.1806_1830del25 (p.Ala604Argfs) http://identifiers.org/clinvar/98550 ^@ NM_000180.3(GUCY2D):c.1956+2T>A http://identifiers.org/clinvar/98551 ^@ NM_000180.3(GUCY2D):c.1957-1G>A http://identifiers.org/clinvar/98552 ^@ NM_000180.3(GUCY2D):c.1957-1G>T http://identifiers.org/clinvar/98553 ^@ NM_000180.3(GUCY2D):c.1957G>A (p.Gly653Arg) http://identifiers.org/clinvar/98554 ^@ NM_000180.3(GUCY2D):c.1978C>T (p.Arg660Ter) http://identifiers.org/clinvar/98555 ^@ NM_000180.3(GUCY2D):c.1979G>A (p.Arg660Gln) http://identifiers.org/clinvar/98556 ^@ NM_000180.3(GUCY2D):c.2078_2085delCACAGAAG (p.Ala693Glyfs) http://identifiers.org/clinvar/98557 ^@ NM_000180.3(GUCY2D):c.2080C>A (p.Gln694Lys) http://identifiers.org/clinvar/98558 ^@ NM_000180.3(GUCY2D):c.2101C>T (p.Pro701Ser) http://identifiers.org/clinvar/98559 ^@ NM_000180.3(GUCY2D):c.2109G>A (p.Ala703=) http://identifiers.org/clinvar/98560 ^@ NM_000180.3(GUCY2D):c.2237A>G (p.Tyr746Cys) http://identifiers.org/clinvar/98561 ^@ NM_000180.3(GUCY2D):c.2248G>T (p.Glu750Ter) http://identifiers.org/clinvar/98562 ^@ NM_000180.3(GUCY2D):c.226_239delGCCGCCCGCCTGGC (p.Ala76Argfs) http://identifiers.org/clinvar/98563 ^@ NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) http://identifiers.org/clinvar/98564 ^@ NM_000180.3(GUCY2D):c.2317A>C (p.Met773Leu) http://identifiers.org/clinvar/98565 ^@ NM_000180.3(GUCY2D):c.2346C>A (p.Leu782=) http://identifiers.org/clinvar/98566 ^@ NM_000180.3(GUCY2D):c.2384G>T (p.Arg795Leu) http://identifiers.org/clinvar/98570 ^@ NM_000180.3(GUCY2D):c.2566A>G (p.Met856Val) http://identifiers.org/clinvar/98571 ^@ NM_000180.3(GUCY2D):c.2572C>T (p.Pro858Ser) http://identifiers.org/clinvar/98572 ^@ NM_000180.3(GUCY2D):c.2576+37G>T http://identifiers.org/clinvar/98573 ^@ NM_000180.3(GUCY2D):c.2745C>T (p.Ile915=) http://identifiers.org/clinvar/98574 ^@ NM_000180.3(GUCY2D):c.2749G>C (p.Gly917Arg) http://identifiers.org/clinvar/98575 ^@ NM_000180.3(GUCY2D):c.2800G>C (p.Ala934Pro) http://identifiers.org/clinvar/98576 ^@ NM_000180.3(GUCY2D):c.2837C>T (p.Ala946Val) http://identifiers.org/clinvar/98577 ^@ NM_000180.3(GUCY2D):c.2849C>T (p.Ala950Val) http://identifiers.org/clinvar/98578 ^@ NM_000180.3(GUCY2D):c.2861T>C (p.Leu954Pro) http://identifiers.org/clinvar/98579 ^@ NM_000180.3(GUCY2D):c.2899delC (p.His967Ilefs) http://identifiers.org/clinvar/98580 ^@ NM_000180.3(GUCY2D):c.289G>C (p.Glu97Gln) http://identifiers.org/clinvar/98581 ^@ NM_000180.3(GUCY2D):c.2927G>T (p.Arg976Leu) http://identifiers.org/clinvar/98582 ^@ NM_000180.3(GUCY2D):c.2943delG (p.Gly982Valfs) http://identifiers.org/clinvar/98583 ^@ NM_000180.3(GUCY2D):c.2951G>A (p.Cys984Tyr) http://identifiers.org/clinvar/98584 ^@ NM_000180.3(GUCY2D):c.2983C>T (p.Arg995Trp) http://identifiers.org/clinvar/98585 ^@ NM_000180.3(GUCY2D):c.2T>A (p.Met1Lys) http://identifiers.org/clinvar/98586 ^@ NM_000180.3(GUCY2D):c.3025A>T (p.Met1009Leu) http://identifiers.org/clinvar/98587 ^@ NM_000180.3(GUCY2D):c.3043+4A>T http://identifiers.org/clinvar/98588 ^@ NM_000180.3(GUCY2D):c.3055C>A (p.His1019Asn) http://identifiers.org/clinvar/98589 ^@ NM_000180.3(GUCY2D):c.3078_3079delGA (p.Ile1027Serfs) http://identifiers.org/clinvar/98590 ^@ NM_000180.3(GUCY2D):c.307G>A (p.Glu103Lys) http://identifiers.org/clinvar/98591 ^@ NM_000180.3(GUCY2D):c.3106C>T (p.Gln1036Ter) http://identifiers.org/clinvar/98592 ^@ NM_000180.3(GUCY2D):c.3108G>T (p.Gln1036His) http://identifiers.org/clinvar/98593 ^@ NM_000180.3(GUCY2D):c.3118C>G (p.Arg1040Gly) http://identifiers.org/clinvar/98594 ^@ NM_000180.3(GUCY2D):c.3118C>T (p.Arg1040Ter) http://identifiers.org/clinvar/98595 ^@ NM_000180.3(GUCY2D):c.314G>A (p.Cys105Tyr) http://identifiers.org/clinvar/98596 ^@ NM_000180.3(GUCY2D):c.3181G>A (p.Gly1061Ser) http://identifiers.org/clinvar/98597 ^@ NM_000180.3(GUCY2D):c.3205delC (p.Pro1069Argfs) http://identifiers.org/clinvar/98598 ^@ NM_000180.3(GUCY2D):c.3235_3236insACCA (p.Gly1080Glnfs) http://identifiers.org/clinvar/98599 ^@ NM_000180.3(GUCY2D):c.3282G>T (p.Leu1094=) http://identifiers.org/clinvar/98600 ^@ NM_000180.3(GUCY2D):c.341T>C (p.Val114Ala) http://identifiers.org/clinvar/98601 ^@ NM_000180.3(GUCY2D):c.387C>A (p.Asn129Lys) http://identifiers.org/clinvar/98602 ^@ NM_000180.3(GUCY2D):c.387delC (p.Pro130Leufs) http://identifiers.org/clinvar/98603 ^@ NM_000180.3(GUCY2D):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/98604 ^@ NM_000180.3(GUCY2D):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/98605 ^@ NM_000180.3(GUCY2D):c.52_99dup48 (p.Leu33_Pro34insGlyProAlaTrpTrpAlaProSerLeuProArgLeuProArgAlaLeu) http://identifiers.org/clinvar/98606 ^@ NM_000180.3(GUCY2D):c.577C>T (p.Leu193=) http://identifiers.org/clinvar/98607 ^@ NM_000180.3(GUCY2D):c.620delC (p.Arg208Glyfs) http://identifiers.org/clinvar/98608 ^@ NM_000180.3(GUCY2D):c.779T>C (p.Leu260Pro) http://identifiers.org/clinvar/98609 ^@ NM_000180.3(GUCY2D):c.87dupC (p.Arg31Profs) http://identifiers.org/clinvar/98610 ^@ NM_000180.3(GUCY2D):c.935C>T (p.Thr312Met) http://identifiers.org/clinvar/98611 ^@ NM_000180.3(GUCY2D):c.937C>T (p.Arg313Cys) http://identifiers.org/clinvar/98612 ^@ NM_000180.3(GUCY2D):c.974T>C (p.Leu325Pro) http://identifiers.org/clinvar/98613 ^@ NM_000273.2(GPR143):c.116T>G (p.Leu39Arg) http://identifiers.org/clinvar/98614 ^@ NM_000273.2(GPR143):c.13C>T (p.Arg5Cys) http://identifiers.org/clinvar/98615 ^@ NM_000273.2(GPR143):c.151_157delGGCCGCC (p.Arg52Profs) http://identifiers.org/clinvar/98616 ^@ NM_000273.2(GPR143):c.165_193del29 (p.Pro57Leufs) http://identifiers.org/clinvar/98617 ^@ NM_000273.2(GPR143):c.174_175insC (p.Ser59Leufs) http://identifiers.org/clinvar/98618 ^@ NM_000273.2(GPR143):c.175delT (p.Ser59Profs) http://identifiers.org/clinvar/98619 ^@ NM_000273.2(GPR143):c.215_231del17 (p.Ala73Profs) http://identifiers.org/clinvar/98620 ^@ NM_000273.2(GPR143):c.232G>A (p.Asp78Asn) http://identifiers.org/clinvar/98621 ^@ NM_000273.2(GPR143):c.233A>T (p.Asp78Val) http://identifiers.org/clinvar/98622 ^@ NM_000273.2(GPR143):c.250G>C (p.Gly84Arg) http://identifiers.org/clinvar/98623 ^@ NM_000273.2(GPR143):c.251-1G>C http://identifiers.org/clinvar/98624 ^@ NM_000273.2(GPR143):c.251G>A (p.Gly84Asp) http://identifiers.org/clinvar/98625 ^@ NM_000273.2(GPR143):c.310delG (p.Asp104Ilefs) http://identifiers.org/clinvar/98626 ^@ NM_000273.2(GPR143):c.346T>C (p.Cys116Arg) http://identifiers.org/clinvar/98627 ^@ NM_000273.2(GPR143):c.347G>C (p.Cys116Ser) http://identifiers.org/clinvar/98628 ^@ NM_000273.2(GPR143):c.353G>A (p.Gly118Glu) http://identifiers.org/clinvar/98629 ^@ NM_000273.2(GPR143):c.360+13C>G http://identifiers.org/clinvar/98630 ^@ NM_000273.2(GPR143):c.360+5G>C http://identifiers.org/clinvar/98631 ^@ NM_000273.2(GPR143):c.360G>A (p.Ala120=) http://identifiers.org/clinvar/98632 ^@ NM_000273.2(GPR143):c.371A>G (p.Gln124Arg) http://identifiers.org/clinvar/98633 ^@ NM_000273.2(GPR143):c.402delG (p.Cys136Alafs) http://identifiers.org/clinvar/98634 ^@ NM_000273.2(GPR143):c.413C>T (p.Ala138Val) http://identifiers.org/clinvar/98635 ^@ NM_000273.2(GPR143):c.444_445insAGATCGG (p.Ala149Argfs) http://identifiers.org/clinvar/98636 ^@ NM_000273.2(GPR143):c.455+1G>C http://identifiers.org/clinvar/98637 ^@ NM_000273.2(GPR143):c.518C>A (p.Ala173Asp) http://identifiers.org/clinvar/98638 ^@ NM_000273.2(GPR143):c.676delG (p.Gly226Glufs) http://identifiers.org/clinvar/98639 ^@ NM_000273.2(GPR143):c.686G>T (p.Gly229Val) http://identifiers.org/clinvar/98640 ^@ NM_000273.2(GPR143):c.697G>A (p.Glu233Lys) http://identifiers.org/clinvar/98641 ^@ NM_000273.2(GPR143):c.705G>A (p.Glu235=) http://identifiers.org/clinvar/98642 ^@ NM_000273.2(GPR143):c.730A>G (p.Ile244Val) http://identifiers.org/clinvar/98643 ^@ NM_000273.2(GPR143):c.754_767delGTTTTAATTATTTG (p.Val252Leufs) http://identifiers.org/clinvar/98644 ^@ NM_000273.2(GPR143):c.779A>T (p.Asn260Ile) http://identifiers.org/clinvar/98645 ^@ NM_000273.2(GPR143):c.812A>G (p.Glu271Gly) http://identifiers.org/clinvar/98646 ^@ NM_000273.2(GPR143):c.868_870delACC (p.Thr291del) http://identifiers.org/clinvar/98647 ^@ NM_000273.2(GPR143):c.874T>G (p.Trp292Gly) http://identifiers.org/clinvar/98648 ^@ NM_000273.2(GPR143):c.876G>A (p.Trp292Ter) http://identifiers.org/clinvar/98649 ^@ NM_000273.2(GPR143):c.876G>T (p.Trp292Cys) http://identifiers.org/clinvar/98650 ^@ NM_000273.2(GPR143):c.885+1G>A http://identifiers.org/clinvar/98651 ^@ NM_000273.2(GPR143):c.931_932insCG (p.Tyr311Serfs) http://identifiers.org/clinvar/98653 ^@ NM_000322.4(PRPH2):c.133C>T (p.Leu45Phe) http://identifiers.org/clinvar/98654 ^@ NM_000322.4(PRPH2):c.*850_*853delAGAC http://identifiers.org/clinvar/98655 ^@ NM_000322.4(PRPH2):c.198_202delGATGGinsAAGACAGA (p.Met67_Gly68delinsArgGlnArg) http://identifiers.org/clinvar/98656 ^@ NM_000322.4(PRPH2):c.199_201delATG (p.Met67del) http://identifiers.org/clinvar/98657 ^@ NM_000322.4(PRPH2):c.202G>A (p.Gly68Arg) http://identifiers.org/clinvar/98658 ^@ NM_000322.4(PRPH2):c.249C>T (p.Tyr83=) http://identifiers.org/clinvar/98659 ^@ NM_000322.4(PRPH2):c.303C>T (p.Tyr101=) http://identifiers.org/clinvar/98661 ^@ NM_000322.4(PRPH2):c.371delG (p.Gly124Alafs) http://identifiers.org/clinvar/98662 ^@ NM_000322.4(PRPH2):c.376C>G (p.Leu126Val) http://identifiers.org/clinvar/98663 ^@ NM_000322.4(PRPH2):c.37C>A (p.Arg13=) http://identifiers.org/clinvar/98664 ^@ NM_000322.4(PRPH2):c.37C>T (p.Arg13Trp) http://identifiers.org/clinvar/98665 ^@ NM_000322.4(PRPH2):c.421T>C (p.Tyr141His) http://identifiers.org/clinvar/98666 ^@ NM_000322.4(PRPH2):c.422A>G (p.Tyr141Cys) http://identifiers.org/clinvar/98667 ^@ NM_000322.4(PRPH2):c.423_424insTACT (p.Arg142Tyrfs) http://identifiers.org/clinvar/98668 ^@ NM_000322.4(PRPH2):c.441delT (p.Gly148Alafs) http://identifiers.org/clinvar/98669 ^@ NM_000322.4(PRPH2):c.458A>G (p.Lys153Arg) http://identifiers.org/clinvar/98671 ^@ NM_000322.4(PRPH2):c.469G>A (p.Asp157Asn) http://identifiers.org/clinvar/98672 ^@ NM_000322.4(PRPH2):c.494G>A (p.Cys165Tyr) http://identifiers.org/clinvar/98673 ^@ NM_000322.4(PRPH2):c.505_507delAAC (p.Asn169del) http://identifiers.org/clinvar/98674 ^@ NM_000322.4(PRPH2):c.508G>A (p.Gly170Ser) http://identifiers.org/clinvar/98675 ^@ NM_000322.4(PRPH2):c.514C>G (p.Arg172Gly) http://identifiers.org/clinvar/98676 ^@ NM_000322.4(PRPH2):c.533A>G (p.Gln178Arg) http://identifiers.org/clinvar/98677 ^@ NM_000322.4(PRPH2):c.535T>C (p.Trp179Arg) http://identifiers.org/clinvar/98678 ^@ NM_000322.4(PRPH2):c.551A>C (p.Tyr184Ser) http://identifiers.org/clinvar/98679 ^@ NM_000322.4(PRPH2):c.577_579delAAA (p.Lys193del) http://identifiers.org/clinvar/98680 ^@ NM_000322.4(PRPH2):c.578_579delAA (p.Lys193Argfs) http://identifiers.org/clinvar/98681 ^@ NM_000322.4(PRPH2):c.589A>G (p.Lys197Glu) http://identifiers.org/clinvar/98682 ^@ NM_000322.4(PRPH2):c.599T>A (p.Val200Glu) http://identifiers.org/clinvar/98683 ^@ NM_000322.4(PRPH2):c.609_625del17 (p.Tyr204Profs) http://identifiers.org/clinvar/98684 ^@ NM_000322.4(PRPH2):c.616_627delGTGGACGGCGTC (p.Val206_Val209del) http://identifiers.org/clinvar/98685 ^@ NM_000322.4(PRPH2):c.623dupG (p.Val209Argfs) http://identifiers.org/clinvar/98686 ^@ NM_000322.4(PRPH2):c.628C>T (p.Pro210Ser) http://identifiers.org/clinvar/98687 ^@ NM_000322.4(PRPH2):c.629C>T (p.Pro210Leu) http://identifiers.org/clinvar/98688 ^@ NM_000322.4(PRPH2):c.633C>A (p.Phe211Leu) http://identifiers.org/clinvar/98689 ^@ NM_000322.4(PRPH2):c.634A>G (p.Ser212Gly) http://identifiers.org/clinvar/98690 ^@ NM_000322.4(PRPH2):c.635G>C (p.Ser212Thr) http://identifiers.org/clinvar/98691 ^@ NM_000322.4(PRPH2):c.637T>C (p.Cys213Arg) http://identifiers.org/clinvar/98692 ^@ NM_000322.4(PRPH2):c.638G>A (p.Cys213Tyr) http://identifiers.org/clinvar/98693 ^@ NM_000322.4(PRPH2):c.641G>A (p.Cys214Tyr) http://identifiers.org/clinvar/98694 ^@ NM_000322.4(PRPH2):c.641G>C (p.Cys214Ser) http://identifiers.org/clinvar/98695 ^@ NM_000322.4(PRPH2):c.646C>T (p.Pro216Ser) http://identifiers.org/clinvar/98696 ^@ NM_000322.4(PRPH2):c.656C>G (p.Pro219Arg) http://identifiers.org/clinvar/98697 ^@ NM_000322.4(PRPH2):c.656_658delCAC (p.Pro219del) http://identifiers.org/clinvar/98698 ^@ NM_000322.4(PRPH2):c.658C>T (p.Arg220Trp) http://identifiers.org/clinvar/98699 ^@ NM_000322.4(PRPH2):c.659G>A (p.Arg220Gln) http://identifiers.org/clinvar/98700 ^@ NM_000322.4(PRPH2):c.676C>G (p.Gln226Glu) http://identifiers.org/clinvar/98701 ^@ NM_000322.4(PRPH2):c.700dupT (p.Tyr234Leufs) http://identifiers.org/clinvar/98702 ^@ NM_000322.4(PRPH2):c.708C>T (p.Tyr236=) http://identifiers.org/clinvar/98703 ^@ NM_000322.4(PRPH2):c.715C>T (p.Gln239Ter) http://identifiers.org/clinvar/98704 ^@ NM_000322.4(PRPH2):c.730A>C (p.Asn244His) http://identifiers.org/clinvar/98705 ^@ NM_000322.4(PRPH2):c.732C>G (p.Asn244Lys) http://identifiers.org/clinvar/98706 ^@ NM_000322.4(PRPH2):c.736T>C (p.Trp246Arg) http://identifiers.org/clinvar/98707 ^@ NM_000322.4(PRPH2):c.73_74delTG (p.Trp25Valfs) http://identifiers.org/clinvar/98708 ^@ NM_000322.4(PRPH2):c.773A>C (p.Tyr258Ser) http://identifiers.org/clinvar/98709 ^@ NM_000322.4(PRPH2):c.797G>A (p.Gly266Asp) http://identifiers.org/clinvar/98710 ^@ NM_000322.4(PRPH2):c.802G>A (p.Val268Ile) http://identifiers.org/clinvar/98711 ^@ NM_000322.4(PRPH2):c.80C>T (p.Ser27Phe) http://identifiers.org/clinvar/98712 ^@ NM_000322.4(PRPH2):c.824_825delTC (p.Phe275Terfs) http://identifiers.org/clinvar/98713 ^@ NM_000322.4(PRPH2):c.828+3A>T http://identifiers.org/clinvar/98714 ^@ NM_000322.4(PRPH2):c.855C>A (p.Tyr285Ter) http://identifiers.org/clinvar/98715 ^@ NM_000322.4(PRPH2):c.866C>T (p.Ser289Leu) http://identifiers.org/clinvar/98717 ^@ NM_000322.4(PRPH2):c.904G>T (p.Glu302Ter) http://identifiers.org/clinvar/98718 ^@ NM_000322.4(PRPH2):c.914G>A (p.Gly305Asp) http://identifiers.org/clinvar/98719 ^@ NM_000322.4(PRPH2):c.914_922delGCTGGCTGC (p.Gly305_Leu308delinsVal) http://identifiers.org/clinvar/98720 ^@ NM_000322.4(PRPH2):c.920delT (p.Leu307Argfs) http://identifiers.org/clinvar/98721 ^@ NM_000322.4(PRPH2):c.938C>T (p.Pro313Leu) http://identifiers.org/clinvar/98722 ^@ NM_000322.4(PRPH2):c.94A>G (p.Ile32Val) http://identifiers.org/clinvar/98723 ^@ NM_000322.4(PRPH2):c.96dupC (p.Ile33Hisfs) http://identifiers.org/clinvar/98724 ^@ NM_000322.4(PRPH2):c.991C>T (p.Gln331Ter) http://identifiers.org/clinvar/98725 ^@ NM_000328.2(RPGR):c.1033A>G (p.Asn345Asp) http://identifiers.org/clinvar/98726 ^@ NM_000328.2(RPGR):c.106G>T (p.Val36Phe) http://identifiers.org/clinvar/98727 ^@ NM_000328.2(RPGR):c.1088dupT (p.Ala365Cysfs) http://identifiers.org/clinvar/98728 ^@ NM_000328.2(RPGR):c.1099delC (p.Pro367Leufs) http://identifiers.org/clinvar/98729 ^@ NM_000328.2(RPGR):c.1120G>T (p.Glu374Ter) http://identifiers.org/clinvar/98730 ^@ NM_000328.2(RPGR):c.1243_1244dupAG (p.Glu416Glyfs) http://identifiers.org/clinvar/98731 ^@ NM_000328.2(RPGR):c.1245+16A>G http://identifiers.org/clinvar/98732 ^@ NM_000328.2(RPGR):c.1245+3A>G http://identifiers.org/clinvar/98733 ^@ NM_000328.2(RPGR):c.1261_1279del19 (p.Ser421Hisfs) http://identifiers.org/clinvar/98734 ^@ NM_000328.2(RPGR):c.1274G>A (p.Arg425Lys) http://identifiers.org/clinvar/98735 ^@ NM_000328.2(RPGR):c.127G>A (p.Gly43Arg) http://identifiers.org/clinvar/98736 ^@ NM_000328.2(RPGR):c.128G>A (p.Gly43Glu) http://identifiers.org/clinvar/98737 ^@ NM_000328.2(RPGR):c.1291A>G (p.Ile431Val) http://identifiers.org/clinvar/98738 ^@ NM_000328.2(RPGR):c.1307G>A (p.Gly436Asp) http://identifiers.org/clinvar/98739 ^@ NM_000328.2(RPGR):c.1376_1377delTC (p.Leu460Ilefs) http://identifiers.org/clinvar/98740 ^@ NM_000328.2(RPGR):c.1402_1405delCCAG (p.Pro468Argfs) http://identifiers.org/clinvar/98741 ^@ NM_000328.2(RPGR):c.141T>G (p.Ser47=) http://identifiers.org/clinvar/98742 ^@ NM_000328.2(RPGR):c.1476delC (p.Gly494Glufs) http://identifiers.org/clinvar/98743 ^@ NM_000328.2(RPGR):c.1478T>A (p.Leu493His) http://identifiers.org/clinvar/98744 ^@ NM_000328.2(RPGR):c.1507-68T>C http://identifiers.org/clinvar/98745 ^@ NM_000328.2(RPGR):c.1507-97T>C http://identifiers.org/clinvar/98746 ^@ NM_000328.2(RPGR):c.1508_1509delCA (p.Ile505Hisfs) http://identifiers.org/clinvar/98747 ^@ NM_000328.2(RPGR):c.154G>T (p.Gly52Ter) http://identifiers.org/clinvar/98748 ^@ NM_000328.2(RPGR):c.1573-1G>A http://identifiers.org/clinvar/98749 ^@ NM_000328.2(RPGR):c.1573-2A>G http://identifiers.org/clinvar/98750 ^@ NM_000328.2(RPGR):c.1573-8A>G http://identifiers.org/clinvar/98751 ^@ NM_000328.2(RPGR):c.1575_1578delACAA (p.Lys525Asnfs) http://identifiers.org/clinvar/98753 ^@ NM_000328.2(RPGR):c.1747G>T (p.Glu583Ter) http://identifiers.org/clinvar/98754 ^@ NM_000328.2(RPGR):c.1832dupA (p.Asn612Lysfs) http://identifiers.org/clinvar/98755 ^@ NM_000328.2(RPGR):c.2055A>G (p.Arg685=) http://identifiers.org/clinvar/98756 ^@ NM_000328.2(RPGR):c.2080A>T (p.Thr694Ser) http://identifiers.org/clinvar/98757 ^@ NM_000328.2(RPGR):c.2226G>A (p.Met742Ile) http://identifiers.org/clinvar/98758 ^@ NM_000328.2(RPGR):c.2259A>T (p.Arg753Ser) http://identifiers.org/clinvar/98759 ^@ NM_000328.2(RPGR):c.2260G>T (p.Val754Phe) http://identifiers.org/clinvar/98760 ^@ NM_000328.2(RPGR):c.2311delG (p.Glu771Argfs) http://identifiers.org/clinvar/98761 ^@ NM_000328.2(RPGR):c.2356_2357delAA (p.Lys786Argfs) http://identifiers.org/clinvar/98762 ^@ NM_000328.2(RPGR):c.2357_2375del19 (p.Lys786Thrfs) http://identifiers.org/clinvar/98763 ^@ NM_000328.2(RPGR):c.237_238delAT (p.Val81Glnfs) http://identifiers.org/clinvar/98764 ^@ NM_000328.2(RPGR):c.2447_*13delAAATATATATTTATG http://identifiers.org/clinvar/98765 ^@ NM_000328.2(RPGR):c.248-2A>G http://identifiers.org/clinvar/98766 ^@ NM_000328.2(RPGR):c.248-6T>A http://identifiers.org/clinvar/98767 ^@ NM_000328.2(RPGR):c.*74delA http://identifiers.org/clinvar/98768 ^@ NM_000328.2(RPGR):c.*93_*113del21 http://identifiers.org/clinvar/98769 ^@ NM_000328.2(RPGR):c.*157_*171delTATTTATGCTAATAT http://identifiers.org/clinvar/98770 ^@ NM_000328.2(RPGR):c.*177dupA http://identifiers.org/clinvar/98771 ^@ NM_000328.2(RPGR):c.28+1G>A http://identifiers.org/clinvar/98772 ^@ NM_000328.2(RPGR):c.28+5G>A http://identifiers.org/clinvar/98773 ^@ NM_000328.2(RPGR):c.*372_*392dup21 http://identifiers.org/clinvar/98774 ^@ NM_000328.2(RPGR):c.*477_*497dup http://identifiers.org/clinvar/98775 ^@ NM_000328.2(RPGR):c.294C>A (p.His98Gln) http://identifiers.org/clinvar/98776 ^@ NM_000328.2(RPGR):c.295_296insCA (p.Leu100Profs) http://identifiers.org/clinvar/98777 ^@ NM_000328.2(RPGR):c.*624_*635del http://identifiers.org/clinvar/98778 ^@ NM_000328.2(RPGR):c.*638_*649del http://identifiers.org/clinvar/98779 ^@ NM_000328.2(RPGR):c.310+1G>C http://identifiers.org/clinvar/98780 ^@ NM_000328.2(RPGR):c.310+3A>G http://identifiers.org/clinvar/98781 ^@ NM_000328.2(RPGR):c.*874_*875insA http://identifiers.org/clinvar/98782 ^@ NM_000328.2(RPGR):c.355delT (p.Leu119Trpfs) http://identifiers.org/clinvar/98783 ^@ NM_000328.2(RPGR):c.371delC (p.Glu125Lysfs) http://identifiers.org/clinvar/98784 ^@ NM_000328.2(RPGR):c.379A>G (p.Arg127Gly) http://identifiers.org/clinvar/98785 ^@ NM_000328.2(RPGR):c.415G>T (p.Glu139Ter) http://identifiers.org/clinvar/98786 ^@ NM_000328.2(RPGR):c.469+1G>A http://identifiers.org/clinvar/98787 ^@ NM_000328.2(RPGR):c.482_483delTT (p.Phe162Tyrfs) http://identifiers.org/clinvar/98788 ^@ NM_000328.2(RPGR):c.482delT (p.Phe162Leufs) http://identifiers.org/clinvar/98789 ^@ NM_000328.2(RPGR):c.492G>A (p.Trp164Ter) http://identifiers.org/clinvar/98790 ^@ NM_000328.2(RPGR):c.581G>A (p.Trp194Ter) http://identifiers.org/clinvar/98791 ^@ NM_000328.2(RPGR):c.605C>A (p.Ser202Ter) http://identifiers.org/clinvar/98792 ^@ NM_000328.2(RPGR):c.619+5G>A http://identifiers.org/clinvar/98793 ^@ NM_000328.2(RPGR):c.620-41T>C http://identifiers.org/clinvar/98794 ^@ NM_000328.2(RPGR):c.644G>T (p.Gly215Val) http://identifiers.org/clinvar/98795 ^@ NM_000328.2(RPGR):c.706C>T (p.Gln236Ter) http://identifiers.org/clinvar/98796 ^@ NM_000328.2(RPGR):c.730A>T (p.Lys244Ter) http://identifiers.org/clinvar/98797 ^@ NM_000328.2(RPGR):c.732G>A (p.Lys244=) http://identifiers.org/clinvar/98798 ^@ NM_000328.2(RPGR):c.747delC (p.Cys250Valfs) http://identifiers.org/clinvar/98799 ^@ NM_000328.2(RPGR):c.748T>C (p.Cys250Arg) http://identifiers.org/clinvar/98800 ^@ NM_000328.2(RPGR):c.750_751delTG (p.Cys250Trpfs) http://identifiers.org/clinvar/98801 ^@ NM_000328.2(RPGR):c.778+5G>A http://identifiers.org/clinvar/98802 ^@ NM_000328.2(RPGR):c.779-1G>A http://identifiers.org/clinvar/98803 ^@ NM_000328.2(RPGR):c.833_836delCTTT (p.Thr278Ilefs) http://identifiers.org/clinvar/98804 ^@ NM_000328.2(RPGR):c.834_835delTT (p.Phe279Serfs) http://identifiers.org/clinvar/98805 ^@ NM_000328.2(RPGR):c.834delT (p.Leu280Phefs) http://identifiers.org/clinvar/98806 ^@ NM_000328.2(RPGR):c.865A>G (p.Ile289Val) http://identifiers.org/clinvar/98807 ^@ NM_000328.2(RPGR):c.869delA (p.Glu290Glyfs) http://identifiers.org/clinvar/98808 ^@ NM_000328.2(RPGR):c.886_900delACAATAAGTTATATT (p.Thr296_Ile300del) http://identifiers.org/clinvar/98809 ^@ NM_000328.2(RPGR):c.904T>C (p.Cys302Arg) http://identifiers.org/clinvar/98810 ^@ NM_000328.2(RPGR):c.905G>A (p.Cys302Tyr) http://identifiers.org/clinvar/98811 ^@ NM_000328.2(RPGR):c.931A>G (p.Thr311Ala) http://identifiers.org/clinvar/98812 ^@ NM_000328.2(RPGR):c.934+1G>A http://identifiers.org/clinvar/98813 ^@ NM_000328.2(RPGR):c.934+1G>C http://identifiers.org/clinvar/98814 ^@ NM_000328.2(RPGR):c.958G>A (p.Gly320Arg) http://identifiers.org/clinvar/98815 ^@ NM_000328.2(RPGR):c.97delA (p.Asn34Metfs) http://identifiers.org/clinvar/98816 ^@ NM_000328.2(RPGR):c.980T>G (p.Leu327Ter) http://identifiers.org/clinvar/98817 ^@ NM_000328.2(RPGR):c.994G>T (p.Glu332Ter) http://identifiers.org/clinvar/98818 ^@ NM_000329.2(RPE65):c.1046_1047insTGG (p.Asn349_Trp350insGly) http://identifiers.org/clinvar/98819 ^@ NM_000329.2(RPE65):c.1053A>G (p.Glu351=) http://identifiers.org/clinvar/98820 ^@ NM_000329.2(RPE65):c.1056G>A (p.Glu352=) http://identifiers.org/clinvar/98821 ^@ NM_000329.2(RPE65):c.1067delA (p.Asn356Metfs) http://identifiers.org/clinvar/98822 ^@ NM_000329.2(RPE65):c.106_114delCTCTGGCTC (p.Leu36_Leu38del) http://identifiers.org/clinvar/98823 ^@ NM_000329.2(RPE65):c.1078G>C (p.Ala360Pro) http://identifiers.org/clinvar/98824 ^@ NM_000329.2(RPE65):c.11+34T>A http://identifiers.org/clinvar/98825 ^@ NM_000329.2(RPE65):c.11+5G>A http://identifiers.org/clinvar/98826 ^@ NM_000329.2(RPE65):c.1103A>G (p.Tyr368Cys) http://identifiers.org/clinvar/98827 ^@ NM_000329.2(RPE65):c.1120delA (p.Ile374Leufs) http://identifiers.org/clinvar/98828 ^@ NM_000329.2(RPE65):c.1155G>A (p.Thr385=) http://identifiers.org/clinvar/98829 ^@ NM_000329.2(RPE65):c.1178C>G (p.Ala393Gly) http://identifiers.org/clinvar/98830 ^@ NM_000329.2(RPE65):c.118G>A (p.Gly40Ser) http://identifiers.org/clinvar/98831 ^@ NM_000329.2(RPE65):c.1207_1210dupCTGG (p.Glu404Alafs) http://identifiers.org/clinvar/98832 ^@ NM_000329.2(RPE65):c.1208T>C (p.Leu403Pro) http://identifiers.org/clinvar/98833 ^@ NM_000329.2(RPE65):c.1220T>C (p.Val407Ala) http://identifiers.org/clinvar/98834 ^@ NM_000329.2(RPE65):c.1223T>C (p.Leu408Pro) http://identifiers.org/clinvar/98835 ^@ NM_000329.2(RPE65):c.1249G>C (p.Glu417Gln) http://identifiers.org/clinvar/98836 ^@ NM_000329.2(RPE65):c.1301C>T (p.Ala434Val) http://identifiers.org/clinvar/98837 ^@ NM_000329.2(RPE65):c.1302G>C (p.Ala434=) http://identifiers.org/clinvar/98838 ^@ NM_000329.2(RPE65):c.1304A>G (p.Tyr435Cys) http://identifiers.org/clinvar/98839 ^@ NM_000329.2(RPE65):c.1307G>T (p.Gly436Val) http://identifiers.org/clinvar/98840 ^@ NM_000329.2(RPE65):c.131G>A (p.Arg44Gln) http://identifiers.org/clinvar/98841 ^@ NM_000329.2(RPE65):c.1338+20A>C http://identifiers.org/clinvar/98842 ^@ NM_000329.2(RPE65):c.1350G>T (p.Leu450=) http://identifiers.org/clinvar/98843 ^@ NM_000329.2(RPE65):c.136delG (p.Pro47Glnfs) http://identifiers.org/clinvar/98844 ^@ NM_000329.2(RPE65):c.1370C>A (p.Thr457Asn) http://identifiers.org/clinvar/98845 ^@ NM_000329.2(RPE65):c.1384G>T (p.Glu462Ter) http://identifiers.org/clinvar/98846 ^@ NM_000329.2(RPE65):c.1418T>A (p.Val473Asp) http://identifiers.org/clinvar/98847 ^@ NM_000329.2(RPE65):c.1451-22C>T http://identifiers.org/clinvar/98848 ^@ NM_000329.2(RPE65):c.1451G>A (p.Gly484Asp) http://identifiers.org/clinvar/98849 ^@ NM_000329.2(RPE65):c.1559T>C (p.Ile520Thr) http://identifiers.org/clinvar/98850 ^@ NM_000329.2(RPE65):c.1590delC (p.Phe530Leufs) http://identifiers.org/clinvar/98851 ^@ NM_000329.2(RPE65):c.202C>T (p.His68Tyr) http://identifiers.org/clinvar/98852 ^@ NM_000329.2(RPE65):c.208_209delTTinsGG (p.Phe70Gly) http://identifiers.org/clinvar/98853 ^@ NM_000329.2(RPE65):c.231C>A (p.Val77=) http://identifiers.org/clinvar/98854 ^@ NM_000329.2(RPE65):c.235T>C (p.Tyr79His) http://identifiers.org/clinvar/98855 ^@ NM_000329.2(RPE65):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/98856 ^@ NM_000329.2(RPE65):c.271_272insA (p.Arg91Glnfs) http://identifiers.org/clinvar/98857 ^@ NM_000329.2(RPE65):c.272G>A (p.Arg91Gln) http://identifiers.org/clinvar/98858 ^@ NM_000329.2(RPE65):c.272G>C (p.Arg91Pro) http://identifiers.org/clinvar/98859 ^@ NM_000329.2(RPE65):c.283G>C (p.Glu95Gln) http://identifiers.org/clinvar/98860 ^@ NM_000329.2(RPE65):c.290_309del20 (p.Ile98Hisfs) http://identifiers.org/clinvar/98861 ^@ NM_000329.2(RPE65):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/98862 ^@ NM_000329.2(RPE65):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/98863 ^@ NM_000329.2(RPE65):c.304G>T (p.Glu102Ter) http://identifiers.org/clinvar/98864 ^@ NM_000329.2(RPE65):c.311G>T (p.Gly104Val) http://identifiers.org/clinvar/98865 ^@ NM_000329.2(RPE65):c.353+1G>T http://identifiers.org/clinvar/98866 ^@ NM_000329.2(RPE65):c.370C>T (p.Arg124Ter) http://identifiers.org/clinvar/98867 ^@ NM_000329.2(RPE65):c.399T>C (p.Leu133=) http://identifiers.org/clinvar/98868 ^@ NM_000329.2(RPE65):c.430T>G (p.Tyr144Asp) http://identifiers.org/clinvar/98869 ^@ NM_000329.2(RPE65):c.432C>T (p.Tyr144=) http://identifiers.org/clinvar/98870 ^@ NM_000329.2(RPE65):c.444G>T (p.Glu148Asp) http://identifiers.org/clinvar/98871 ^@ NM_000329.2(RPE65):c.48T>C (p.Phe16=) http://identifiers.org/clinvar/98872 ^@ NM_000329.2(RPE65):c.495_495+1insG http://identifiers.org/clinvar/98873 ^@ NM_000329.2(RPE65):c.499G>T (p.Asp167Tyr) http://identifiers.org/clinvar/98874 ^@ NM_000329.2(RPE65):c.544C>A (p.His182Asn) http://identifiers.org/clinvar/98875 ^@ NM_000329.2(RPE65):c.544C>T (p.His182Tyr) http://identifiers.org/clinvar/98876 ^@ NM_000329.2(RPE65):c.570C>T (p.Tyr190=) http://identifiers.org/clinvar/98877 ^@ NM_000329.2(RPE65):c.57_58delGG (p.Glu20Glyfs) http://identifiers.org/clinvar/98878 ^@ NM_000329.2(RPE65):c.609C>T (p.Ala203=) http://identifiers.org/clinvar/98879 ^@ NM_000329.2(RPE65):c.614A>G (p.Asn205Ser) http://identifiers.org/clinvar/98880 ^@ NM_000329.2(RPE65):c.615_616delCA (p.Ile206Cysfs) http://identifiers.org/clinvar/98881 ^@ NM_000329.2(RPE65):c.643+1G>C http://identifiers.org/clinvar/98882 ^@ NM_000329.2(RPE65):c.643+5G>A http://identifiers.org/clinvar/98883 ^@ NM_000329.2(RPE65):c.644-1G>T http://identifiers.org/clinvar/98884 ^@ NM_000329.2(RPE65):c.644-2A>T http://identifiers.org/clinvar/98885 ^@ NM_000329.2(RPE65):c.644-42delT http://identifiers.org/clinvar/98886 ^@ NM_000329.2(RPE65):c.644-43delA http://identifiers.org/clinvar/98887 ^@ NM_000329.2(RPE65):c.644A>G (p.Asp215Gly) http://identifiers.org/clinvar/98888 ^@ NM_000329.2(RPE65):c.65T>C (p.Leu22Pro) http://identifiers.org/clinvar/98889 ^@ NM_000329.2(RPE65):c.715T>G (p.Tyr239Asp) http://identifiers.org/clinvar/98890 ^@ NM_000329.2(RPE65):c.725+4A>G http://identifiers.org/clinvar/98891 ^@ NM_000329.2(RPE65):c.777_784delTAACCTGT (p.Asn260Glnfs) http://identifiers.org/clinvar/98892 ^@ NM_000329.2(RPE65):c.858+1G>A http://identifiers.org/clinvar/98893 ^@ NM_000329.2(RPE65):c.858+1G>T http://identifiers.org/clinvar/98894 ^@ NM_000329.2(RPE65):c.858+4A>G http://identifiers.org/clinvar/98895 ^@ NM_000329.2(RPE65):c.859G>T (p.Val287Phe) http://identifiers.org/clinvar/98897 ^@ NM_000329.2(RPE65):c.894delG (p.Lys298Asnfs) http://identifiers.org/clinvar/98898 ^@ NM_000329.2(RPE65):c.89dupT (p.Thr31Asnfs) http://identifiers.org/clinvar/98899 ^@ NM_000329.2(RPE65):c.95-2A>T http://identifiers.org/clinvar/98900 ^@ NM_000329.2(RPE65):c.952T>A (p.Tyr318Asn) http://identifiers.org/clinvar/98901 ^@ NM_000329.2(RPE65):c.95G>T (p.Gly32Val) http://identifiers.org/clinvar/98902 ^@ NM_000329.2(RPE65):c.962dupA (p.Asn321Lysfs) http://identifiers.org/clinvar/98903 ^@ NM_000329.2(RPE65):c.978G>T (p.Val326=) http://identifiers.org/clinvar/98904 ^@ NM_000329.2(RPE65):c.989G>A (p.Cys330Tyr) http://identifiers.org/clinvar/98905 ^@ NM_000330.3(RS1):c.120C>A (p.Cys40Ter) http://identifiers.org/clinvar/98906 ^@ NM_000330.3(RS1):c.163_164insGCCA (p.Thr55Serfs) http://identifiers.org/clinvar/98907 ^@ NM_000330.3(RS1):c.163delA (p.Thr55Profs) http://identifiers.org/clinvar/98908 ^@ NM_000330.3(RS1):c.175T>A (p.Cys59Ser) http://identifiers.org/clinvar/98909 ^@ NM_000330.3(RS1):c.184+1G>C http://identifiers.org/clinvar/98910 ^@ NM_000330.3(RS1):c.185-1G>C http://identifiers.org/clinvar/98911 ^@ NM_000330.3(RS1):c.194A>G (p.Tyr65Cys) http://identifiers.org/clinvar/98912 ^@ NM_000330.3(RS1):c.194delA (p.Tyr65Phefs) http://identifiers.org/clinvar/98913 ^@ NM_000330.3(RS1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/98914 ^@ NM_000330.3(RS1):c.208G>C (p.Gly70Arg) http://identifiers.org/clinvar/98915 ^@ NM_000330.3(RS1):c.209G>A (p.Gly70Asp) http://identifiers.org/clinvar/98916 ^@ NM_000330.3(RS1):c.214G>C (p.Glu72Gln) http://identifiers.org/clinvar/98917 ^@ NM_000330.3(RS1):c.217T>C (p.Ser73Pro) http://identifiers.org/clinvar/98918 ^@ NM_000330.3(RS1):c.219delA (p.Glu75Argfs) http://identifiers.org/clinvar/98919 ^@ NM_000330.3(RS1):c.223G>T (p.Glu75Ter) http://identifiers.org/clinvar/98920 ^@ NM_000330.3(RS1):c.242T>A (p.Ile81Asn) http://identifiers.org/clinvar/98921 ^@ NM_000330.3(RS1):c.253_255delAAC (p.Asn85del) http://identifiers.org/clinvar/98922 ^@ NM_000330.3(RS1):c.262C>T (p.Gln88Ter) http://identifiers.org/clinvar/98923 ^@ NM_000330.3(RS1):c.266A>G (p.Tyr89Cys) http://identifiers.org/clinvar/98924 ^@ NM_000330.3(RS1):c.267T>A (p.Tyr89Ter) http://identifiers.org/clinvar/98925 ^@ NM_000330.3(RS1):c.276G>C (p.Trp92Cys) http://identifiers.org/clinvar/98926 ^@ NM_000330.3(RS1):c.288G>A (p.Trp96Ter) http://identifiers.org/clinvar/98927 ^@ NM_000330.3(RS1):c.293C>A (p.Ala98Glu) http://identifiers.org/clinvar/98928 ^@ NM_000330.3(RS1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/98929 ^@ NM_000330.3(RS1):c.301G>C (p.Ala101Pro) http://identifiers.org/clinvar/98930 ^@ NM_000330.3(RS1):c.301delG (p.Ala101Profs) http://identifiers.org/clinvar/98931 ^@ NM_000330.3(RS1):c.308T>G (p.Leu103Arg) http://identifiers.org/clinvar/98932 ^@ NM_000330.3(RS1):c.312C>G (p.Asn104Lys) http://identifiers.org/clinvar/98933 ^@ NM_000330.3(RS1):c.317dupA (p.Gly107Argfs) http://identifiers.org/clinvar/98934 ^@ NM_000330.3(RS1):c.323T>G (p.Phe108Cys) http://identifiers.org/clinvar/98935 ^@ NM_000330.3(RS1):c.325G>T (p.Gly109Trp) http://identifiers.org/clinvar/98936 ^@ NM_000330.3(RS1):c.326+1G>A http://identifiers.org/clinvar/98937 ^@ NM_000330.3(RS1):c.326G>A (p.Gly109Glu) http://identifiers.org/clinvar/98938 ^@ NM_000330.3(RS1):c.329G>A (p.Cys110Tyr) http://identifiers.org/clinvar/98939 ^@ NM_000330.3(RS1):c.330T>A (p.Cys110Ter) http://identifiers.org/clinvar/98940 ^@ NM_000330.3(RS1):c.330T>C (p.Cys110=) http://identifiers.org/clinvar/98941 ^@ NM_000330.3(RS1):c.336G>C (p.Trp112Cys) http://identifiers.org/clinvar/98942 ^@ NM_000330.3(RS1):c.336G>T (p.Trp112Cys) http://identifiers.org/clinvar/98943 ^@ NM_000330.3(RS1):c.337C>T (p.Leu113Phe) http://identifiers.org/clinvar/98944 ^@ NM_000330.3(RS1):c.33_36delACTT (p.Leu11Phefs) http://identifiers.org/clinvar/98945 ^@ NM_000330.3(RS1):c.349_350insT (p.Gln117Leufs) http://identifiers.org/clinvar/98946 ^@ NM_000330.3(RS1):c.35T>A (p.Leu12His) http://identifiers.org/clinvar/98947 ^@ NM_000330.3(RS1):c.366G>C (p.Trp122Cys) http://identifiers.org/clinvar/98948 ^@ NM_000330.3(RS1):c.375_378delAGAT (p.Asp126Terfs) http://identifiers.org/clinvar/98949 ^@ NM_000330.3(RS1):c.380T>C (p.Leu127Pro) http://identifiers.org/clinvar/98950 ^@ NM_000330.3(RS1):c.392_393delAA (p.Lys131Serfs) http://identifiers.org/clinvar/98951 ^@ NM_000330.3(RS1):c.397A>T (p.Ile133Phe) http://identifiers.org/clinvar/98952 ^@ NM_000330.3(RS1):c.404G>T (p.Gly135Val) http://identifiers.org/clinvar/98953 ^@ NM_000330.3(RS1):c.407T>C (p.Ile136Thr) http://identifiers.org/clinvar/98954 ^@ NM_000330.3(RS1):c.412A>G (p.Thr138Ala) http://identifiers.org/clinvar/98955 ^@ NM_000330.3(RS1):c.416delA (p.Gln139Argfs) http://identifiers.org/clinvar/98956 ^@ NM_000330.3(RS1):c.418G>A (p.Gly140Arg) http://identifiers.org/clinvar/98957 ^@ NM_000330.3(RS1):c.419G>A (p.Gly140Glu) http://identifiers.org/clinvar/98958 ^@ NM_000330.3(RS1):c.421C>G (p.Arg141Gly) http://identifiers.org/clinvar/98959 ^@ NM_000330.3(RS1):c.421C>T (p.Arg141Cys) http://identifiers.org/clinvar/98960 ^@ NM_000330.3(RS1):c.422G>A (p.Arg141His) http://identifiers.org/clinvar/98961 ^@ NM_000330.3(RS1):c.426T>C (p.Cys142=) http://identifiers.org/clinvar/98962 ^@ NM_000330.3(RS1):c.426T>G (p.Cys142Trp) http://identifiers.org/clinvar/98963 ^@ NM_000330.3(RS1):c.426_427delTG (p.Cys142Terfs) http://identifiers.org/clinvar/98964 ^@ NM_000330.3(RS1):c.428A>T (p.Asp143Val) http://identifiers.org/clinvar/98965 ^@ NM_000330.3(RS1):c.436G>A (p.Glu146Lys) http://identifiers.org/clinvar/98966 ^@ NM_000330.3(RS1):c.438G>C (p.Glu146Asp) http://identifiers.org/clinvar/98967 ^@ NM_000330.3(RS1):c.460C>T (p.Gln154Ter) http://identifiers.org/clinvar/98968 ^@ NM_000330.3(RS1):c.464A>G (p.Tyr155Cys) http://identifiers.org/clinvar/98969 ^@ NM_000330.3(RS1):c.472G>A (p.Asp158Asn) http://identifiers.org/clinvar/98970 ^@ NM_000330.3(RS1):c.489G>A (p.Trp163Ter) http://identifiers.org/clinvar/98971 ^@ NM_000330.3(RS1):c.489G>T (p.Trp163Cys) http://identifiers.org/clinvar/98972 ^@ NM_000330.3(RS1):c.499A>T (p.Lys167Ter) http://identifiers.org/clinvar/98973 ^@ NM_000330.3(RS1):c.501G>C (p.Lys167Asn) http://identifiers.org/clinvar/98974 ^@ NM_000330.3(RS1):c.52+1G>A http://identifiers.org/clinvar/98975 ^@ NM_000330.3(RS1):c.52+1G>T http://identifiers.org/clinvar/98976 ^@ NM_000330.3(RS1):c.52+1_52+2insT http://identifiers.org/clinvar/98977 ^@ NM_000330.3(RS1):c.52+2T>C http://identifiers.org/clinvar/98978 ^@ NM_000330.3(RS1):c.52+5G>C http://identifiers.org/clinvar/98979 ^@ NM_000330.3(RS1):c.522+1G>A http://identifiers.org/clinvar/98980 ^@ NM_000330.3(RS1):c.522+1G>T http://identifiers.org/clinvar/98981 ^@ NM_000330.3(RS1):c.522+5G>A http://identifiers.org/clinvar/98982 ^@ NM_000330.3(RS1):c.523-2A>G http://identifiers.org/clinvar/98983 ^@ NM_000330.3(RS1):c.533G>A (p.Gly178Asp) http://identifiers.org/clinvar/98984 ^@ NM_000330.3(RS1):c.535A>G (p.Asn179Asp) http://identifiers.org/clinvar/98985 ^@ NM_000330.3(RS1):c.53_77del25 (p.Ala18Glyfs) http://identifiers.org/clinvar/98986 ^@ NM_000330.3(RS1):c.544C>T (p.Arg182Cys) http://identifiers.org/clinvar/98987 ^@ NM_000330.3(RS1):c.548_549insCC (p.Ser184Profs) http://identifiers.org/clinvar/98988 ^@ NM_000330.3(RS1):c.554C>T (p.Thr185Met) http://identifiers.org/clinvar/98989 ^@ NM_000330.3(RS1):c.574C>A (p.Pro192Thr) http://identifiers.org/clinvar/98990 ^@ NM_000330.3(RS1):c.574C>T (p.Pro192Ser) http://identifiers.org/clinvar/98991 ^@ NM_000330.3(RS1):c.575C>G (p.Pro192Arg) http://identifiers.org/clinvar/98992 ^@ NM_000330.3(RS1):c.576_577insT (p.Pro193Serfs) http://identifiers.org/clinvar/98993 ^@ NM_000330.3(RS1):c.577C>T (p.Pro193Ser) http://identifiers.org/clinvar/98994 ^@ NM_000330.3(RS1):c.578C>T (p.Pro193Leu) http://identifiers.org/clinvar/98995 ^@ NM_000330.3(RS1):c.579dupC (p.Ile194Hisfs) http://identifiers.org/clinvar/98996 ^@ NM_000330.3(RS1):c.589C>T (p.Arg197Cys) http://identifiers.org/clinvar/98997 ^@ NM_000330.3(RS1):c.590G>A (p.Arg197His) http://identifiers.org/clinvar/98998 ^@ NM_000330.3(RS1):c.590G>C (p.Arg197Pro) http://identifiers.org/clinvar/98999 ^@ NM_000330.3(RS1):c.596T>C (p.Ile199Thr) http://identifiers.org/clinvar/99000 ^@ NM_000330.3(RS1):c.598C>T (p.Arg200Cys) http://identifiers.org/clinvar/99001 ^@ NM_000330.3(RS1):c.599G>A (p.Arg200His) http://identifiers.org/clinvar/99002 ^@ NM_000330.3(RS1):c.606C>T (p.Ile202=) http://identifiers.org/clinvar/99003 ^@ NM_000330.3(RS1):c.618G>A (p.Trp206Ter) http://identifiers.org/clinvar/99004 ^@ NM_000330.3(RS1):c.621C>G (p.His207Gln) http://identifiers.org/clinvar/99005 ^@ NM_000330.3(RS1):c.625C>G (p.Arg209Gly) http://identifiers.org/clinvar/99006 ^@ NM_000330.3(RS1):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/99007 ^@ NM_000330.3(RS1):c.626G>A (p.Arg209His) http://identifiers.org/clinvar/99008 ^@ NM_000330.3(RS1):c.631G>A (p.Ala211Thr) http://identifiers.org/clinvar/99009 ^@ NM_000330.3(RS1):c.637C>T (p.Arg213Trp) http://identifiers.org/clinvar/99010 ^@ NM_000330.3(RS1):c.638G>A (p.Arg213Gln) http://identifiers.org/clinvar/99011 ^@ NM_000330.3(RS1):c.639delG (p.Met214Trpfs) http://identifiers.org/clinvar/99012 ^@ NM_000330.3(RS1):c.643G>A (p.Glu215Lys) http://identifiers.org/clinvar/99013 ^@ NM_000330.3(RS1):c.643G>C (p.Glu215Gln) http://identifiers.org/clinvar/99014 ^@ NM_000330.3(RS1):c.647T>C (p.Leu216Pro) http://identifiers.org/clinvar/99015 ^@ NM_000330.3(RS1):c.655T>C (p.Cys219Arg) http://identifiers.org/clinvar/99016 ^@ NM_000330.3(RS1):c.655T>G (p.Cys219Gly) http://identifiers.org/clinvar/99017 ^@ NM_000330.3(RS1):c.655_*4del25 http://identifiers.org/clinvar/99018 ^@ NM_000330.3(RS1):c.655delT (p.Cys219Alafs) http://identifiers.org/clinvar/99019 ^@ NM_000330.3(RS1):c.666G>C (p.Lys222Asn) http://identifiers.org/clinvar/99020 ^@ NM_000330.3(RS1):c.68C>A (p.Ser23Ter) http://identifiers.org/clinvar/99021 ^@ NM_000330.3(RS1):c.76G>T (p.Glu26Ter) http://identifiers.org/clinvar/99022 ^@ NM_000330.3(RS1):c.78+1G>A http://identifiers.org/clinvar/99023 ^@ NM_000330.3(RS1):c.79-2A>G http://identifiers.org/clinvar/99024 ^@ NM_000350.2(ABCA4):c.1007C>G (p.Ser336Cys) http://identifiers.org/clinvar/99025 ^@ NM_000350.2(ABCA4):c.1015T>G (p.Trp339Gly) http://identifiers.org/clinvar/99026 ^@ NM_000350.2(ABCA4):c.1025_1038delACAATAACTATAAG (p.Asp342Glyfs) http://identifiers.org/clinvar/99027 ^@ NM_000350.2(ABCA4):c.1036A>T (p.Lys346Ter) http://identifiers.org/clinvar/99028 ^@ NM_000350.2(ABCA4):c.1037A>C (p.Lys346Thr) http://identifiers.org/clinvar/99029 ^@ NM_000350.2(ABCA4):c.1066A>T (p.Lys356Ter) http://identifiers.org/clinvar/99030 ^@ NM_000350.2(ABCA4):c.106delT (p.Leu37Trpfs) http://identifiers.org/clinvar/99031 ^@ NM_000350.2(ABCA4):c.1086T>G (p.Tyr362Ter) http://identifiers.org/clinvar/99032 ^@ NM_000350.2(ABCA4):c.1100-14T>C http://identifiers.org/clinvar/99033 ^@ NM_000350.2(ABCA4):c.1140T>A (p.Asn380Lys) http://identifiers.org/clinvar/99034 ^@ NM_000350.2(ABCA4):c.1220C>T (p.Ala407Val) http://identifiers.org/clinvar/99035 ^@ NM_000350.2(ABCA4):c.1222C>T (p.Arg408Ter) http://identifiers.org/clinvar/99036 ^@ NM_000350.2(ABCA4):c.122G>A (p.Trp41Ter) http://identifiers.org/clinvar/99037 ^@ NM_000350.2(ABCA4):c.1240-14C>T http://identifiers.org/clinvar/99038 ^@ NM_000350.2(ABCA4):c.1248A>C (p.Ser416=) http://identifiers.org/clinvar/99039 ^@ NM_000350.2(ABCA4):c.1268A>C (p.His423Pro) http://identifiers.org/clinvar/99040 ^@ NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) http://identifiers.org/clinvar/99041 ^@ NM_000350.2(ABCA4):c.1269C>T (p.His423=) http://identifiers.org/clinvar/99042 ^@ NM_000350.2(ABCA4):c.1272T>C (p.Val424=) http://identifiers.org/clinvar/99043 ^@ NM_000350.2(ABCA4):c.1317G>A (p.Trp439Ter) http://identifiers.org/clinvar/99044 ^@ NM_000350.2(ABCA4):c.1325T>C (p.Phe442Ser) http://identifiers.org/clinvar/99045 ^@ NM_000350.2(ABCA4):c.1335C>G (p.Ser445Arg) http://identifiers.org/clinvar/99046 ^@ NM_000350.2(ABCA4):c.1341delG (p.Met448Terfs) http://identifiers.org/clinvar/99047 ^@ NM_000350.2(ABCA4):c.1344delG (p.Met448Ilefs) http://identifiers.org/clinvar/99048 ^@ NM_000350.2(ABCA4):c.1356+5_1356+6insC http://identifiers.org/clinvar/99049 ^@ NM_000350.2(ABCA4):c.1356+5delG http://identifiers.org/clinvar/99050 ^@ NM_000350.2(ABCA4):c.1356+6G>C http://identifiers.org/clinvar/99051 ^@ NM_000350.2(ABCA4):c.1387_1388delTT (p.Leu464Glufs) http://identifiers.org/clinvar/99052 ^@ NM_000350.2(ABCA4):c.1411G>A (p.Glu471Lys) http://identifiers.org/clinvar/99053 ^@ NM_000350.2(ABCA4):c.141G>A (p.Pro47=) http://identifiers.org/clinvar/99054 ^@ NM_000350.2(ABCA4):c.1506_1514delATTTAACAT (p.Phe503_Ile505del) http://identifiers.org/clinvar/99055 ^@ NM_000350.2(ABCA4):c.1513_1517delATCAC (p.Ile505Terfs) http://identifiers.org/clinvar/99056 ^@ NM_000350.2(ABCA4):c.1526delC (p.Leu510Serfs) http://identifiers.org/clinvar/99057 ^@ NM_000350.2(ABCA4):c.1554+1G>A http://identifiers.org/clinvar/99058 ^@ NM_000350.2(ABCA4):c.1555-1G>A http://identifiers.org/clinvar/99059 ^@ NM_000350.2(ABCA4):c.1569T>G (p.Asp523Glu) http://identifiers.org/clinvar/99060 ^@ NM_000350.2(ABCA4):c.1575T>G (p.Phe525Leu) http://identifiers.org/clinvar/99061 ^@ NM_000350.2(ABCA4):c.160+1G>A http://identifiers.org/clinvar/99062 ^@ NM_000350.2(ABCA4):c.1609C>T (p.Arg537Cys) http://identifiers.org/clinvar/99063 ^@ NM_000350.2(ABCA4):c.161-45G>T http://identifiers.org/clinvar/99064 ^@ NM_000350.2(ABCA4):c.1610G>A (p.Arg537His) http://identifiers.org/clinvar/99065 ^@ NM_000350.2(ABCA4):c.161G>A (p.Cys54Tyr) http://identifiers.org/clinvar/99066 ^@ NM_000350.2(ABCA4):c.161G>T (p.Cys54Phe) http://identifiers.org/clinvar/99068 ^@ NM_000350.2(ABCA4):c.1623A>G (p.Leu541=) http://identifiers.org/clinvar/99069 ^@ NM_000350.2(ABCA4):c.1645G>C (p.Ala549Pro) http://identifiers.org/clinvar/99070 ^@ NM_000350.2(ABCA4):c.1648G>A (p.Gly550Arg) http://identifiers.org/clinvar/99071 ^@ NM_000350.2(ABCA4):c.1653G>A (p.Val551=) http://identifiers.org/clinvar/99072 ^@ NM_000350.2(ABCA4):c.1659C>G (p.Phe553Leu) http://identifiers.org/clinvar/99073 ^@ NM_000350.2(ABCA4):c.1715G>C (p.Arg572Pro) http://identifiers.org/clinvar/99074 ^@ NM_000350.2(ABCA4):c.174C>G (p.Asn58Lys) http://identifiers.org/clinvar/99075 ^@ NM_000350.2(ABCA4):c.1760+22G>T http://identifiers.org/clinvar/99076 ^@ NM_000350.2(ABCA4):c.1760+2T>G http://identifiers.org/clinvar/99077 ^@ NM_000350.2(ABCA4):c.1761-37G>A http://identifiers.org/clinvar/99078 ^@ NM_000350.2(ABCA4):c.1761-50G>A http://identifiers.org/clinvar/99079 ^@ NM_000350.2(ABCA4):c.1761-54G>A http://identifiers.org/clinvar/99080 ^@ NM_000350.2(ABCA4):c.1789C>T (p.Pro597Ser) http://identifiers.org/clinvar/99081 ^@ NM_000350.2(ABCA4):c.178G>A (p.Ala60Thr) http://identifiers.org/clinvar/99082 ^@ NM_000350.2(ABCA4):c.1798G>T (p.Asp600Tyr) http://identifiers.org/clinvar/99083 ^@ NM_000350.2(ABCA4):c.179C>T (p.Ala60Val) http://identifiers.org/clinvar/99084 ^@ NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) http://identifiers.org/clinvar/99085 ^@ NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) http://identifiers.org/clinvar/99086 ^@ NM_000350.2(ABCA4):c.1811T>G (p.Ile604Ser) http://identifiers.org/clinvar/99087 ^@ NM_000350.2(ABCA4):c.1819G>A (p.Gly607Arg) http://identifiers.org/clinvar/99088 ^@ NM_000350.2(ABCA4):c.1819G>T (p.Gly607Trp) http://identifiers.org/clinvar/99089 ^@ NM_000350.2(ABCA4):c.1822T>C (p.Phe608Leu) http://identifiers.org/clinvar/99090 ^@ NM_000350.2(ABCA4):c.1823T>A (p.Phe608Tyr) http://identifiers.org/clinvar/99092 ^@ NM_000350.2(ABCA4):c.1853G>A (p.Gly618Glu) http://identifiers.org/clinvar/99093 ^@ NM_000350.2(ABCA4):c.1878G>A (p.Ala626=) http://identifiers.org/clinvar/99094 ^@ NM_000350.2(ABCA4):c.1894delA (p.Ile632Serfs) http://identifiers.org/clinvar/99095 ^@ NM_000350.2(ABCA4):c.1903C>A (p.Gln635Lys) http://identifiers.org/clinvar/99096 ^@ NM_000350.2(ABCA4):c.1903C>T (p.Gln635Ter) http://identifiers.org/clinvar/99097 ^@ NM_000350.2(ABCA4):c.1908G>T (p.Gln636His) http://identifiers.org/clinvar/99098 ^@ NM_000350.2(ABCA4):c.1917C>A (p.Tyr639Ter) http://identifiers.org/clinvar/99099 ^@ NM_000350.2(ABCA4):c.1917C>T (p.Tyr639=) http://identifiers.org/clinvar/99100 ^@ NM_000350.2(ABCA4):c.1922G>C (p.Cys641Ser) http://identifiers.org/clinvar/99101 ^@ NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) http://identifiers.org/clinvar/99102 ^@ NM_000350.2(ABCA4):c.1928T>G (p.Val643Gly) http://identifiers.org/clinvar/99103 ^@ NM_000350.2(ABCA4):c.1933G>A (p.Asp645Asn) http://identifiers.org/clinvar/99104 ^@ NM_000350.2(ABCA4):c.1937+1G>A http://identifiers.org/clinvar/99105 ^@ NM_000350.2(ABCA4):c.1937+2T>C http://identifiers.org/clinvar/99106 ^@ NM_000350.2(ABCA4):c.1938-1G>A http://identifiers.org/clinvar/99107 ^@ NM_000350.2(ABCA4):c.194G>A (p.Gly65Glu) http://identifiers.org/clinvar/99108 ^@ NM_000350.2(ABCA4):c.1957C>T (p.Arg653Cys) http://identifiers.org/clinvar/99109 ^@ NM_000350.2(ABCA4):c.1989G>A (p.Trp663Ter) http://identifiers.org/clinvar/99110 ^@ NM_000350.2(ABCA4):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/99111 ^@ NM_000350.2(ABCA4):c.2005_2006delAT (p.Met669Aspfs) http://identifiers.org/clinvar/99112 ^@ NM_000350.2(ABCA4):c.203C>G (p.Pro68Arg) http://identifiers.org/clinvar/99113 ^@ NM_000350.2(ABCA4):c.203C>T (p.Pro68Leu) http://identifiers.org/clinvar/99114 ^@ NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) http://identifiers.org/clinvar/99115 ^@ NM_000350.2(ABCA4):c.2057T>C (p.Leu686Ser) http://identifiers.org/clinvar/99116 ^@ NM_000350.2(ABCA4):c.2090G>A (p.Trp697Ter) http://identifiers.org/clinvar/99117 ^@ NM_000350.2(ABCA4):c.2099G>A (p.Trp700Ter) http://identifiers.org/clinvar/99118 ^@ NM_000350.2(ABCA4):c.2127G>A (p.Ser709=) http://identifiers.org/clinvar/99119 ^@ NM_000350.2(ABCA4):c.2147C>T (p.Thr716Met) http://identifiers.org/clinvar/99120 ^@ NM_000350.2(ABCA4):c.214G>A (p.Gly72Arg) http://identifiers.org/clinvar/99121 ^@ NM_000350.2(ABCA4):c.2160+1G>C http://identifiers.org/clinvar/99122 ^@ NM_000350.2(ABCA4):c.223T>G (p.Cys75Gly) http://identifiers.org/clinvar/99123 ^@ NM_000350.2(ABCA4):c.2291G>A (p.Cys764Tyr) http://identifiers.org/clinvar/99124 ^@ NM_000350.2(ABCA4):c.2292delT (p.Cys764Terfs) http://identifiers.org/clinvar/99125 ^@ NM_000350.2(ABCA4):c.2294G>A (p.Ser765Asn) http://identifiers.org/clinvar/99126 ^@ NM_000350.2(ABCA4):c.2295T>G (p.Ser765Arg) http://identifiers.org/clinvar/99127 ^@ NM_000350.2(ABCA4):c.2300T>A (p.Val767Asp) http://identifiers.org/clinvar/99128 ^@ NM_000350.2(ABCA4):c.230T>A (p.Val77Glu) http://identifiers.org/clinvar/99129 ^@ NM_000350.2(ABCA4):c.2337C>A (p.Cys779Ter) http://identifiers.org/clinvar/99130 ^@ NM_000350.2(ABCA4):c.234C>T (p.Asn78=) http://identifiers.org/clinvar/99131 ^@ NM_000350.2(ABCA4):c.2383-10C>G http://identifiers.org/clinvar/99132 ^@ NM_000350.2(ABCA4):c.2385_2400del16 (p.Ser795Argfs) http://identifiers.org/clinvar/99133 ^@ NM_000350.2(ABCA4):c.2390T>C (p.Leu797Pro) http://identifiers.org/clinvar/99134 ^@ NM_000350.2(ABCA4):c.2409_2410delAT (p.Phe804Trpfs) http://identifiers.org/clinvar/99135 ^@ NM_000350.2(ABCA4):c.2453G>A (p.Gly818Glu) http://identifiers.org/clinvar/99136 ^@ NM_000350.2(ABCA4):c.2461T>A (p.Trp821Arg) http://identifiers.org/clinvar/99137 ^@ NM_000350.2(ABCA4):c.2472C>T (p.Ile824=) http://identifiers.org/clinvar/99138 ^@ NM_000350.2(ABCA4):c.247_250delCAAA (p.Gln83Alafs) http://identifiers.org/clinvar/99139 ^@ NM_000350.2(ABCA4):c.249_250insCAAA (p.Ser84Glnfs) http://identifiers.org/clinvar/99140 ^@ NM_000350.2(ABCA4):c.2536G>C (p.Asp846His) http://identifiers.org/clinvar/99141 ^@ NM_000350.2(ABCA4):c.2546T>C (p.Val849Ala) http://identifiers.org/clinvar/99142 ^@ NM_000350.2(ABCA4):c.2552G>A (p.Gly851Asp) http://identifiers.org/clinvar/99143 ^@ NM_000350.2(ABCA4):c.2560G>A (p.Ala854Thr) http://identifiers.org/clinvar/99144 ^@ NM_000350.2(ABCA4):c.2564G>A (p.Trp855Ter) http://identifiers.org/clinvar/99145 ^@ NM_000350.2(ABCA4):c.2571delT (p.Asp858Ilefs) http://identifiers.org/clinvar/99146 ^@ NM_000350.2(ABCA4):c.2585C>T (p.Pro862Leu) http://identifiers.org/clinvar/99147 ^@ NM_000350.2(ABCA4):c.2587+1G>A http://identifiers.org/clinvar/99148 ^@ NM_000350.2(ABCA4):c.2588-12C>G http://identifiers.org/clinvar/99149 ^@ NM_000350.2(ABCA4):c.2617T>C (p.Phe873Leu) http://identifiers.org/clinvar/99150 ^@ NM_000350.2(ABCA4):c.2653+60G>C http://identifiers.org/clinvar/99151 ^@ NM_000350.2(ABCA4):c.2654-21A>T http://identifiers.org/clinvar/99152 ^@ NM_000350.2(ABCA4):c.2654-48G>C http://identifiers.org/clinvar/99153 ^@ NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) http://identifiers.org/clinvar/99154 ^@ NM_000350.2(ABCA4):c.2692G>A (p.Glu898Lys) http://identifiers.org/clinvar/99155 ^@ NM_000350.2(ABCA4):c.2701A>G (p.Thr901Ala) http://identifiers.org/clinvar/99156 ^@ NM_000350.2(ABCA4):c.2703A>G (p.Thr901=) http://identifiers.org/clinvar/99157 ^@ NM_000350.2(ABCA4):c.2703A>T (p.Thr901=) http://identifiers.org/clinvar/99158 ^@ NM_000350.2(ABCA4):c.2744-38delC http://identifiers.org/clinvar/99159 ^@ NM_000350.2(ABCA4):c.2804T>C (p.Val935Ala) http://identifiers.org/clinvar/99160 ^@ NM_000350.2(ABCA4):c.2820C>G (p.Pro940=) http://identifiers.org/clinvar/99161 ^@ NM_000350.2(ABCA4):c.2827C>G (p.Arg943Gly) http://identifiers.org/clinvar/99162 ^@ NM_000350.2(ABCA4):c.2827C>T (p.Arg943Trp) http://identifiers.org/clinvar/99163 ^@ NM_000350.2(ABCA4):c.2827delC (p.Arg943Glyfs) http://identifiers.org/clinvar/99164 ^@ NM_000350.2(ABCA4):c.2860T>G (p.Tyr954Asp) http://identifiers.org/clinvar/99165 ^@ NM_000350.2(ABCA4):c.286A>C (p.Asn96His) http://identifiers.org/clinvar/99166 ^@ NM_000350.2(ABCA4):c.286A>G (p.Asn96Asp) http://identifiers.org/clinvar/99167 ^@ NM_000350.2(ABCA4):c.2870A>G (p.Gln957Arg) http://identifiers.org/clinvar/99168 ^@ NM_000350.2(ABCA4):c.2876C>T (p.Thr959Ile) http://identifiers.org/clinvar/99169 ^@ NM_000350.2(ABCA4):c.2877C>T (p.Thr959=) http://identifiers.org/clinvar/99170 ^@ NM_000350.2(ABCA4):c.2884delC (p.Leu962Trpfs) http://identifiers.org/clinvar/99172 ^@ NM_000350.2(ABCA4):c.2893A>G (p.Asn965Asp) http://identifiers.org/clinvar/99173 ^@ NM_000350.2(ABCA4):c.2912C>A (p.Thr971Asn) http://identifiers.org/clinvar/99174 ^@ NM_000350.2(ABCA4):c.2915C>A (p.Thr972Asn) http://identifiers.org/clinvar/99175 ^@ NM_000350.2(ABCA4):c.2920T>C (p.Ser974Pro) http://identifiers.org/clinvar/99176 ^@ NM_000350.2(ABCA4):c.2932G>T (p.Gly978Cys) http://identifiers.org/clinvar/99177 ^@ NM_000350.2(ABCA4):c.2933G>A (p.Gly978Asp) http://identifiers.org/clinvar/99178 ^@ NM_000350.2(ABCA4):c.2948C>T (p.Thr983Ile) http://identifiers.org/clinvar/99179 ^@ NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) http://identifiers.org/clinvar/99180 ^@ NM_000350.2(ABCA4):c.2966T>C (p.Val989Ala) http://identifiers.org/clinvar/99181 ^@ NM_000350.2(ABCA4):c.296dupA (p.Asn99Lysfs) http://identifiers.org/clinvar/99182 ^@ NM_000350.2(ABCA4):c.2971G>C (p.Gly991Arg) http://identifiers.org/clinvar/99183 ^@ NM_000350.2(ABCA4):c.2971G>T (p.Gly991Ter) http://identifiers.org/clinvar/99184 ^@ NM_000350.2(ABCA4):c.2977_2984delGACATTGA (p.Asp993Asnfs) http://identifiers.org/clinvar/99185 ^@ NM_000350.2(ABCA4):c.298T>C (p.Ser100Pro) http://identifiers.org/clinvar/99186 ^@ NM_000350.2(ABCA4):c.2992C>T (p.Leu998=) http://identifiers.org/clinvar/99187 ^@ NM_000350.2(ABCA4):c.302+1G>A http://identifiers.org/clinvar/99188 ^@ NM_000350.2(ABCA4):c.302+20C>T http://identifiers.org/clinvar/99189 ^@ NM_000350.2(ABCA4):c.302+26A>G http://identifiers.org/clinvar/99190 ^@ NM_000350.2(ABCA4):c.303-71delA http://identifiers.org/clinvar/99191 ^@ NM_000350.2(ABCA4):c.3041T>G (p.Leu1014Arg) http://identifiers.org/clinvar/99192 ^@ NM_000350.2(ABCA4):c.3050+5G>A http://identifiers.org/clinvar/99193 ^@ NM_000350.2(ABCA4):c.3051-14T>A http://identifiers.org/clinvar/99194 ^@ NM_000350.2(ABCA4):c.3055A>G (p.Thr1019Ala) http://identifiers.org/clinvar/99195 ^@ NM_000350.2(ABCA4):c.3057G>T (p.Thr1019=) http://identifiers.org/clinvar/99196 ^@ NM_000350.2(ABCA4):c.3064G>A (p.Glu1022Lys) http://identifiers.org/clinvar/99197 ^@ NM_000350.2(ABCA4):c.3085C>T (p.Gln1029Ter) http://identifiers.org/clinvar/99198 ^@ NM_000350.2(ABCA4):c.3091A>G (p.Lys1031Glu) http://identifiers.org/clinvar/99199 ^@ NM_000350.2(ABCA4):c.3149G>A (p.Gly1050Asp) http://identifiers.org/clinvar/99200 ^@ NM_000350.2(ABCA4):c.3163C>T (p.Arg1055Trp) http://identifiers.org/clinvar/99201 ^@ NM_000350.2(ABCA4):c.3187T>C (p.Ser1063Pro) http://identifiers.org/clinvar/99202 ^@ NM_000350.2(ABCA4):c.3190+1G>T http://identifiers.org/clinvar/99203 ^@ NM_000350.2(ABCA4):c.3190+83A>T http://identifiers.org/clinvar/99204 ^@ NM_000350.2(ABCA4):c.3191-20C>T http://identifiers.org/clinvar/99205 ^@ NM_000350.2(ABCA4):c.3191-2A>G http://identifiers.org/clinvar/99206 ^@ NM_000350.2(ABCA4):c.3205_3206dupAA (p.Leu1070Serfs) http://identifiers.org/clinvar/99208 ^@ NM_000350.2(ABCA4):c.3212C>T (p.Ser1071Leu) http://identifiers.org/clinvar/99209 ^@ NM_000350.2(ABCA4):c.3216T>C (p.Val1072=) http://identifiers.org/clinvar/99210 ^@ NM_000350.2(ABCA4):c.324dupT (p.Gln110Serfs) http://identifiers.org/clinvar/99211 ^@ NM_000350.2(ABCA4):c.3259G>A (p.Glu1087Lys) http://identifiers.org/clinvar/99212 ^@ NM_000350.2(ABCA4):c.3261A>C (p.Glu1087Asp) http://identifiers.org/clinvar/99213 ^@ NM_000350.2(ABCA4):c.3272G>A (p.Gly1091Glu) http://identifiers.org/clinvar/99214 ^@ NM_000350.2(ABCA4):c.3278A>G (p.Asp1093Gly) http://identifiers.org/clinvar/99215 ^@ NM_000350.2(ABCA4):c.3291A>G (p.Arg1097=) http://identifiers.org/clinvar/99216 ^@ NM_000350.2(ABCA4):c.3295T>C (p.Ser1099Pro) http://identifiers.org/clinvar/99217 ^@ NM_000350.2(ABCA4):c.32T>C (p.Leu11Pro) http://identifiers.org/clinvar/99218 ^@ NM_000350.2(ABCA4):c.3303G>A (p.Trp1101Ter) http://identifiers.org/clinvar/99219 ^@ NM_000350.2(ABCA4):c.3323G>A (p.Arg1108His) http://identifiers.org/clinvar/99220 ^@ NM_000350.2(ABCA4):c.3323G>T (p.Arg1108Leu) http://identifiers.org/clinvar/99221 ^@ NM_000350.2(ABCA4):c.3329-34A>G http://identifiers.org/clinvar/99222 ^@ NM_000350.2(ABCA4):c.3335C>A (p.Thr1112Asn) http://identifiers.org/clinvar/99223 ^@ NM_000350.2(ABCA4):c.3366G>C (p.Glu1122Asp) http://identifiers.org/clinvar/99224 ^@ NM_000350.2(ABCA4):c.3386G>T (p.Arg1129Leu) http://identifiers.org/clinvar/99225 ^@ NM_000350.2(ABCA4):c.3392delC (p.Ile1132Serfs) http://identifiers.org/clinvar/99226 ^@ NM_000350.2(ABCA4):c.3438delC (p.Leu1147Terfs) http://identifiers.org/clinvar/99227 ^@ NM_000350.2(ABCA4):c.3523-12C>T http://identifiers.org/clinvar/99228 ^@ NM_000350.2(ABCA4):c.3523-28T>C http://identifiers.org/clinvar/99229 ^@ NM_000350.2(ABCA4):c.3527_3528insTGCA (p.Cys1177Alafs) http://identifiers.org/clinvar/99230 ^@ NM_000350.2(ABCA4):c.3531C>A (p.Cys1177Ter) http://identifiers.org/clinvar/99231 ^@ NM_000350.2(ABCA4):c.3607+1G>A http://identifiers.org/clinvar/99232 ^@ NM_000350.2(ABCA4):c.3607+32G>A http://identifiers.org/clinvar/99233 ^@ NM_000350.2(ABCA4):c.3608-16T>A http://identifiers.org/clinvar/99234 ^@ NM_000350.2(ABCA4):c.3610G>A (p.Asp1204Asn) http://identifiers.org/clinvar/99235 ^@ NM_000350.2(ABCA4):c.3696T>G (p.Leu1232=) http://identifiers.org/clinvar/99236 ^@ NM_000350.2(ABCA4):c.3703A>G (p.Asn1235Asp) http://identifiers.org/clinvar/99237 ^@ NM_000350.2(ABCA4):c.3749T>C (p.Leu1250Pro) http://identifiers.org/clinvar/99238 ^@ NM_000350.2(ABCA4):c.3754G>T (p.Glu1252Ter) http://identifiers.org/clinvar/99239 ^@ NM_000350.2(ABCA4):c.3758C>T (p.Thr1253Met) http://identifiers.org/clinvar/99240 ^@ NM_000350.2(ABCA4):c.3808G>T (p.Glu1270Ter) http://identifiers.org/clinvar/99241 ^@ NM_000350.2(ABCA4):c.3819dupT (p.Leu1274Serfs) http://identifiers.org/clinvar/99243 ^@ NM_000350.2(ABCA4):c.3862+1G>A http://identifiers.org/clinvar/99244 ^@ NM_000350.2(ABCA4):c.3874C>T (p.Gln1292Ter) http://identifiers.org/clinvar/99245 ^@ NM_000350.2(ABCA4):c.3898C>T (p.Arg1300Ter) http://identifiers.org/clinvar/99246 ^@ NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) http://identifiers.org/clinvar/99247 ^@ NM_000350.2(ABCA4):c.38_46delAGAACTGGA (p.Lys13_Trp15del) http://identifiers.org/clinvar/99248 ^@ NM_000350.2(ABCA4):c.3940C>A (p.Pro1314Thr) http://identifiers.org/clinvar/99249 ^@ NM_000350.2(ABCA4):c.3994C>T (p.Gln1332Ter) http://identifiers.org/clinvar/99250 ^@ NM_000350.2(ABCA4):c.4035_4036dupCA (p.Gly1347Argfs) http://identifiers.org/clinvar/99251 ^@ NM_000350.2(ABCA4):c.4073T>C (p.Leu1358Pro) http://identifiers.org/clinvar/99252 ^@ NM_000350.2(ABCA4):c.4129-35A>T http://identifiers.org/clinvar/99253 ^@ NM_000350.2(ABCA4):c.4129-71A>T http://identifiers.org/clinvar/99254 ^@ NM_000350.2(ABCA4):c.4163T>C (p.Leu1388Pro) http://identifiers.org/clinvar/99255 ^@ NM_000350.2(ABCA4):c.4169T>C (p.Leu1390Pro) http://identifiers.org/clinvar/99256 ^@ NM_000350.2(ABCA4):c.4195G>A (p.Glu1399Lys) http://identifiers.org/clinvar/99257 ^@ NM_000350.2(ABCA4):c.4200C>T (p.Tyr1400=) http://identifiers.org/clinvar/99258 ^@ NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) http://identifiers.org/clinvar/99259 ^@ NM_000350.2(ABCA4):c.4216C>T (p.His1406Tyr) http://identifiers.org/clinvar/99260 ^@ NM_000350.2(ABCA4):c.4222T>C (p.Trp1408Arg) http://identifiers.org/clinvar/99261 ^@ NM_000350.2(ABCA4):c.4223G>T (p.Trp1408Leu) http://identifiers.org/clinvar/99262 ^@ NM_000350.2(ABCA4):c.4231_4232insTATG (p.Gly1411Valfs) http://identifiers.org/clinvar/99263 ^@ NM_000350.2(ABCA4):c.4234C>T (p.Gln1412Ter) http://identifiers.org/clinvar/99264 ^@ NM_000350.2(ABCA4):c.4253+1G>T http://identifiers.org/clinvar/99265 ^@ NM_000350.2(ABCA4):c.4253+43G>A http://identifiers.org/clinvar/99266 ^@ NM_000350.2(ABCA4):c.4253+4C>T http://identifiers.org/clinvar/99267 ^@ NM_000350.2(ABCA4):c.4253+5G>T http://identifiers.org/clinvar/99268 ^@ NM_000350.2(ABCA4):c.4254-2A>G http://identifiers.org/clinvar/99269 ^@ NM_000350.2(ABCA4):c.4254-38G>A http://identifiers.org/clinvar/99270 ^@ NM_000350.2(ABCA4):c.4254-47T>C http://identifiers.org/clinvar/99271 ^@ NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) http://identifiers.org/clinvar/99272 ^@ NM_000350.2(ABCA4):c.4286T>C (p.Val1429Ala) http://identifiers.org/clinvar/99273 ^@ NM_000350.2(ABCA4):c.428C>T (p.Pro143Leu) http://identifiers.org/clinvar/99274 ^@ NM_000350.2(ABCA4):c.4297G>A (p.Val1433Ile) http://identifiers.org/clinvar/99275 ^@ NM_000350.2(ABCA4):c.4316G>A (p.Gly1439Asp) http://identifiers.org/clinvar/99276 ^@ NM_000350.2(ABCA4):c.4318T>G (p.Phe1440Val) http://identifiers.org/clinvar/99277 ^@ NM_000350.2(ABCA4):c.4319T>C (p.Phe1440Ser) http://identifiers.org/clinvar/99278 ^@ NM_000350.2(ABCA4):c.4328G>A (p.Arg1443His) http://identifiers.org/clinvar/99279 ^@ NM_000350.2(ABCA4):c.4346G>A (p.Trp1449Ter) http://identifiers.org/clinvar/99280 ^@ NM_000350.2(ABCA4):c.4352+13G>A http://identifiers.org/clinvar/99281 ^@ NM_000350.2(ABCA4):c.4353-1G>T http://identifiers.org/clinvar/99282 ^@ NM_000350.2(ABCA4):c.4436G>A (p.Trp1479Ter) http://identifiers.org/clinvar/99283 ^@ NM_000350.2(ABCA4):c.4457C>T (p.Pro1486Leu) http://identifiers.org/clinvar/99284 ^@ NM_000350.2(ABCA4):c.4462T>C (p.Cys1488Arg) http://identifiers.org/clinvar/99285 ^@ NM_000350.2(ABCA4):c.4463G>A (p.Cys1488Tyr) http://identifiers.org/clinvar/99286 ^@ NM_000350.2(ABCA4):c.4463G>T (p.Cys1488Phe) http://identifiers.org/clinvar/99287 ^@ NM_000350.2(ABCA4):c.4468T>A (p.Cys1490Ser) http://identifiers.org/clinvar/99288 ^@ NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) http://identifiers.org/clinvar/99289 ^@ NM_000350.2(ABCA4):c.4506C>A (p.Cys1502Ter) http://identifiers.org/clinvar/99290 ^@ NM_000350.2(ABCA4):c.4506C>T (p.Cys1502=) http://identifiers.org/clinvar/99291 ^@ NM_000350.2(ABCA4):c.4535C>G (p.Pro1512Arg) http://identifiers.org/clinvar/99292 ^@ NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) http://identifiers.org/clinvar/99293 ^@ NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) http://identifiers.org/clinvar/99294 ^@ NM_000350.2(ABCA4):c.4539+1G>T http://identifiers.org/clinvar/99295 ^@ NM_000350.2(ABCA4):c.4539+21delG http://identifiers.org/clinvar/99296 ^@ NM_000350.2(ABCA4):c.4539+35G>C http://identifiers.org/clinvar/99297 ^@ NM_000350.2(ABCA4):c.4539+3A>G http://identifiers.org/clinvar/99298 ^@ NM_000350.2(ABCA4):c.4539+40C>T http://identifiers.org/clinvar/99299 ^@ NM_000350.2(ABCA4):c.4549C>A (p.Arg1517Ser) http://identifiers.org/clinvar/99300 ^@ NM_000350.2(ABCA4):c.454C>T (p.Arg152Ter) http://identifiers.org/clinvar/99301 ^@ NM_000350.2(ABCA4):c.455G>A (p.Arg152Gln) http://identifiers.org/clinvar/99302 ^@ NM_000350.2(ABCA4):c.4574T>C (p.Leu1525Pro) http://identifiers.org/clinvar/99303 ^@ NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) http://identifiers.org/clinvar/99304 ^@ NM_000350.2(ABCA4):c.4594G>A (p.Asp1532Asn) http://identifiers.org/clinvar/99305 ^@ NM_000350.2(ABCA4):c.45G>A (p.Trp15Ter) http://identifiers.org/clinvar/99306 ^@ NM_000350.2(ABCA4):c.4610C>T (p.Thr1537Met) http://identifiers.org/clinvar/99307 ^@ NM_000350.2(ABCA4):c.4667+2T>C http://identifiers.org/clinvar/99308 ^@ NM_000350.2(ABCA4):c.4668-15C>T http://identifiers.org/clinvar/99309 ^@ NM_000350.2(ABCA4):c.4668-38C>T http://identifiers.org/clinvar/99310 ^@ NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) http://identifiers.org/clinvar/99311 ^@ NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) http://identifiers.org/clinvar/99312 ^@ NM_000350.2(ABCA4):c.4707delC (p.Ile1571Serfs) http://identifiers.org/clinvar/99313 ^@ NM_000350.2(ABCA4):c.4714A>T (p.Thr1572Ser) http://identifiers.org/clinvar/99314 ^@ NM_000350.2(ABCA4):c.4732G>A (p.Gly1578Arg) http://identifiers.org/clinvar/99315 ^@ NM_000350.2(ABCA4):c.4746C>T (p.Asp1582=) http://identifiers.org/clinvar/99316 ^@ NM_000350.2(ABCA4):c.4748T>C (p.Leu1583Pro) http://identifiers.org/clinvar/99317 ^@ NM_000350.2(ABCA4):c.4773+1G>T http://identifiers.org/clinvar/99318 ^@ NM_000350.2(ABCA4):c.4773+2T>C http://identifiers.org/clinvar/99319 ^@ NM_000350.2(ABCA4):c.4773+48C>T http://identifiers.org/clinvar/99320 ^@ NM_000350.2(ABCA4):c.4774-2A>C http://identifiers.org/clinvar/99321 ^@ NM_000350.2(ABCA4):c.4793C>A (p.Ala1598Asp) http://identifiers.org/clinvar/99322 ^@ NM_000350.2(ABCA4):c.481G>A (p.Glu161Lys) http://identifiers.org/clinvar/99323 ^@ NM_000350.2(ABCA4):c.4838delA (p.Asp1613Alafs) http://identifiers.org/clinvar/99324 ^@ NM_000350.2(ABCA4):c.4849-1G>C http://identifiers.org/clinvar/99325 ^@ NM_000350.2(ABCA4):c.4854G>A (p.Trp1618Ter) http://identifiers.org/clinvar/99326 ^@ NM_000350.2(ABCA4):c.4867G>A (p.Gly1623Ser) http://identifiers.org/clinvar/99327 ^@ NM_000350.2(ABCA4):c.4875T>A (p.His1625Gln) http://identifiers.org/clinvar/99328 ^@ NM_000350.2(ABCA4):c.4892T>C (p.Leu1631Pro) http://identifiers.org/clinvar/99329 ^@ NM_000350.2(ABCA4):c.4909G>A (p.Ala1637Thr) http://identifiers.org/clinvar/99330 ^@ NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) http://identifiers.org/clinvar/99331 ^@ NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln) http://identifiers.org/clinvar/99332 ^@ NM_000350.2(ABCA4):c.4926C>G (p.Ser1642Arg) http://identifiers.org/clinvar/99334 ^@ NM_000350.2(ABCA4):c.4954T>G (p.Tyr1652Asp) http://identifiers.org/clinvar/99335 ^@ NM_000350.2(ABCA4):c.4956T>G (p.Tyr1652Ter) http://identifiers.org/clinvar/99336 ^@ NM_000350.2(ABCA4):c.4999C>A (p.Gln1667Lys) http://identifiers.org/clinvar/99337 ^@ NM_000350.2(ABCA4):c.5018+2T>A http://identifiers.org/clinvar/99338 ^@ NM_000350.2(ABCA4):c.5018+2T>C http://identifiers.org/clinvar/99339 ^@ NM_000350.2(ABCA4):c.5019-32G>A http://identifiers.org/clinvar/99340 ^@ NM_000350.2(ABCA4):c.5041_5055delGTGGTTGCCATCTGC (p.Val1682_Val1686del) http://identifiers.org/clinvar/99341 ^@ NM_000350.2(ABCA4):c.5056G>A (p.Val1686Met) http://identifiers.org/clinvar/99342 ^@ NM_000350.2(ABCA4):c.5065T>C (p.Ser1689Pro) http://identifiers.org/clinvar/99343 ^@ NM_000350.2(ABCA4):c.5077G>A (p.Val1693Ile) http://identifiers.org/clinvar/99344 ^@ NM_000350.2(ABCA4):c.5087G>A (p.Ser1696Asn) http://identifiers.org/clinvar/99345 ^@ NM_000350.2(ABCA4):c.5107C>G (p.Gln1703Glu) http://identifiers.org/clinvar/99346 ^@ NM_000350.2(ABCA4):c.5114G>T (p.Arg1705Leu) http://identifiers.org/clinvar/99347 ^@ NM_000350.2(ABCA4):c.514G>A (p.Gly172Ser) http://identifiers.org/clinvar/99349 ^@ NM_000350.2(ABCA4):c.5161_5162delAC (p.Thr1721Hisfs) http://identifiers.org/clinvar/99350 ^@ NM_000350.2(ABCA4):c.5186T>C (p.Leu1729Pro) http://identifiers.org/clinvar/99351 ^@ NM_000350.2(ABCA4):c.5196+1G>A http://identifiers.org/clinvar/99352 ^@ NM_000350.2(ABCA4):c.5196+1_5196+4del http://identifiers.org/clinvar/99353 ^@ NM_000350.2(ABCA4):c.5196+1_5196+6del http://identifiers.org/clinvar/99354 ^@ NM_000350.2(ABCA4):c.5196+20G>A http://identifiers.org/clinvar/99355 ^@ NM_000350.2(ABCA4):c.5196+2T>C http://identifiers.org/clinvar/99356 ^@ NM_000350.2(ABCA4):c.5196+2T>G http://identifiers.org/clinvar/99357 ^@ NM_000350.2(ABCA4):c.5206T>C (p.Ser1736Pro) http://identifiers.org/clinvar/99358 ^@ NM_000350.2(ABCA4):c.5212_5222delAGTGCTGGGCT (p.Ser1738Glyfs) http://identifiers.org/clinvar/99359 ^@ NM_000350.2(ABCA4):c.5222_5232delTGGTGGTGGGC (p.Leu1741Hisfs) http://identifiers.org/clinvar/99360 ^@ NM_000350.2(ABCA4):c.5223_5233delGGTGGTGGGCA (p.Val1742Leufs) http://identifiers.org/clinvar/99361 ^@ NM_000350.2(ABCA4):c.5242G>A (p.Gly1748Arg) http://identifiers.org/clinvar/99362 ^@ NM_000350.2(ABCA4):c.5248C>T (p.Gln1750Ter) http://identifiers.org/clinvar/99364 ^@ NM_000350.2(ABCA4):c.5281_5289delCCTGCCCTT (p.Pro1761_Leu1763del) http://identifiers.org/clinvar/99365 ^@ NM_000350.2(ABCA4):c.5288T>C (p.Leu1763Pro) http://identifiers.org/clinvar/99366 ^@ NM_000350.2(ABCA4):c.5312+45G>T http://identifiers.org/clinvar/99367 ^@ NM_000350.2(ABCA4):c.5316G>A (p.Trp1772Ter) http://identifiers.org/clinvar/99368 ^@ NM_000350.2(ABCA4):c.5327_5328delCCinsTG (p.Pro1776Leu) http://identifiers.org/clinvar/99369 ^@ NM_000350.2(ABCA4):c.5337C>A (p.Tyr1779Ter) http://identifiers.org/clinvar/99370 ^@ NM_000350.2(ABCA4):c.5337C>G (p.Tyr1779Ter) http://identifiers.org/clinvar/99371 ^@ NM_000350.2(ABCA4):c.5381C>A (p.Ala1794Asp) http://identifiers.org/clinvar/99372 ^@ NM_000350.2(ABCA4):c.5395A>G (p.Asn1799Asp) http://identifiers.org/clinvar/99373 ^@ NM_000350.2(ABCA4):c.5413A>G (p.Asn1805Asp) http://identifiers.org/clinvar/99374 ^@ NM_000350.2(ABCA4):c.5459G>C (p.Arg1820Pro) http://identifiers.org/clinvar/99375 ^@ NM_000350.2(ABCA4):c.5460+1G>A http://identifiers.org/clinvar/99376 ^@ NM_000350.2(ABCA4):c.5461-38delT http://identifiers.org/clinvar/99377 ^@ NM_000350.2(ABCA4):c.5461-50_5461-49insA http://identifiers.org/clinvar/99378 ^@ NM_000350.2(ABCA4):c.5461-51_5461-50insG http://identifiers.org/clinvar/99379 ^@ NM_000350.2(ABCA4):c.5461-52delG http://identifiers.org/clinvar/99380 ^@ NM_000350.2(ABCA4):c.5512C>G (p.His1838Asp) http://identifiers.org/clinvar/99381 ^@ NM_000350.2(ABCA4):c.5512C>T (p.His1838Tyr) http://identifiers.org/clinvar/99382 ^@ NM_000350.2(ABCA4):c.5527C>T (p.Arg1843Trp) http://identifiers.org/clinvar/99383 ^@ NM_000350.2(ABCA4):c.5537T>C (p.Ile1846Thr) http://identifiers.org/clinvar/99384 ^@ NM_000350.2(ABCA4):c.5584+5G>A http://identifiers.org/clinvar/99385 ^@ NM_000350.2(ABCA4):c.5584+6T>C http://identifiers.org/clinvar/99386 ^@ NM_000350.2(ABCA4):c.5585-10T>C http://identifiers.org/clinvar/99387 ^@ NM_000350.2(ABCA4):c.5585-17T>A http://identifiers.org/clinvar/99388 ^@ NM_000350.2(ABCA4):c.5585-1G>A http://identifiers.org/clinvar/99389 ^@ NM_000350.2(ABCA4):c.5585-70C>T http://identifiers.org/clinvar/99390 ^@ NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) http://identifiers.org/clinvar/99391 ^@ NM_000350.2(ABCA4):c.5644A>G (p.Met1882Val) http://identifiers.org/clinvar/99392 ^@ NM_000350.2(ABCA4):c.5651T>A (p.Val1884Glu) http://identifiers.org/clinvar/99393 ^@ NM_000350.2(ABCA4):c.5653G>A (p.Glu1885Lys) http://identifiers.org/clinvar/99394 ^@ NM_000350.2(ABCA4):c.5657G>A (p.Gly1886Glu) http://identifiers.org/clinvar/99395 ^@ NM_000350.2(ABCA4):c.5668_5670delTTC (p.Phe1890del) http://identifiers.org/clinvar/99396 ^@ NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) http://identifiers.org/clinvar/99397 ^@ NM_000350.2(ABCA4):c.5687T>A (p.Val1896Asp) http://identifiers.org/clinvar/99398 ^@ NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) http://identifiers.org/clinvar/99399 ^@ NM_000350.2(ABCA4):c.570G>C (p.Gln190His) http://identifiers.org/clinvar/99400 ^@ NM_000350.2(ABCA4):c.571-1G>T http://identifiers.org/clinvar/99401 ^@ NM_000350.2(ABCA4):c.571-29G>T http://identifiers.org/clinvar/99402 ^@ NM_000350.2(ABCA4):c.571-2A>G http://identifiers.org/clinvar/99403 ^@ NM_000350.2(ABCA4):c.5714+5G>A http://identifiers.org/clinvar/99404 ^@ NM_000350.2(ABCA4):c.5715-25A>C http://identifiers.org/clinvar/99405 ^@ NM_000350.2(ABCA4):c.574G>A (p.Ala192Thr) http://identifiers.org/clinvar/99406 ^@ NM_000350.2(ABCA4):c.5761G>A (p.Val1921Met) http://identifiers.org/clinvar/99407 ^@ NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) http://identifiers.org/clinvar/99408 ^@ NM_000350.2(ABCA4):c.5836-11G>A http://identifiers.org/clinvar/99409 ^@ NM_000350.2(ABCA4):c.5836-16_5836-15insT http://identifiers.org/clinvar/99410 ^@ NM_000350.2(ABCA4):c.5836-2delA http://identifiers.org/clinvar/99411 ^@ NM_000350.2(ABCA4):c.5836-36_5836-35dupTC http://identifiers.org/clinvar/99412 ^@ NM_000350.2(ABCA4):c.5836-40C>A http://identifiers.org/clinvar/99413 ^@ NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) http://identifiers.org/clinvar/99414 ^@ NM_000350.2(ABCA4):c.5868C>T (p.Asp1956=) http://identifiers.org/clinvar/99415 ^@ NM_000350.2(ABCA4):c.5886T>C (p.Val1962=) http://identifiers.org/clinvar/99416 ^@ NM_000350.2(ABCA4):c.5888delG (p.Arg1963Profs) http://identifiers.org/clinvar/99417 ^@ NM_000350.2(ABCA4):c.5898+1G>T http://identifiers.org/clinvar/99418 ^@ NM_000350.2(ABCA4):c.5914G>A (p.Gly1972Arg) http://identifiers.org/clinvar/99419 ^@ NM_000350.2(ABCA4):c.5917delG (p.Val1973Terfs) http://identifiers.org/clinvar/99420 ^@ NM_000350.2(ABCA4):c.5923G>C (p.Gly1975Arg) http://identifiers.org/clinvar/99421 ^@ NM_000350.2(ABCA4):c.5929G>A (p.Gly1977Ser) http://identifiers.org/clinvar/99422 ^@ NM_000350.2(ABCA4):c.5936C>T (p.Thr1979Ile) http://identifiers.org/clinvar/99423 ^@ NM_000350.2(ABCA4):c.5951_5952delTGinsCA (p.Met1984Thr) http://identifiers.org/clinvar/99424 ^@ NM_000350.2(ABCA4):c.5961_5964delGGAC (p.Asp1988Profs) http://identifiers.org/clinvar/99425 ^@ NM_000350.2(ABCA4):c.6005+1G>T http://identifiers.org/clinvar/99426 ^@ NM_000350.2(ABCA4):c.6006-16G>A http://identifiers.org/clinvar/99427 ^@ NM_000350.2(ABCA4):c.6076C>T (p.Leu2026=) http://identifiers.org/clinvar/99428 ^@ NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln) http://identifiers.org/clinvar/99429 ^@ NM_000350.2(ABCA4):c.6104T>C (p.Leu2035Pro) http://identifiers.org/clinvar/99430 ^@ NM_000350.2(ABCA4):c.6112C>T (p.Arg2038Trp) http://identifiers.org/clinvar/99431 ^@ NM_000350.2(ABCA4):c.6118C>T (p.Arg2040Ter) http://identifiers.org/clinvar/99432 ^@ NM_000350.2(ABCA4):c.6166A>T (p.Lys2056Ter) http://identifiers.org/clinvar/99433 ^@ NM_000350.2(ABCA4):c.6179T>G (p.Leu2060Arg) http://identifiers.org/clinvar/99434 ^@ NM_000350.2(ABCA4):c.618C>G (p.Ser206Arg) http://identifiers.org/clinvar/99435 ^@ NM_000350.2(ABCA4):c.6190G>C (p.Ala2064Pro) http://identifiers.org/clinvar/99436 ^@ NM_000350.2(ABCA4):c.6213C>T (p.Tyr2071=) http://identifiers.org/clinvar/99437 ^@ NM_000350.2(ABCA4):c.6229C>G (p.Arg2077Gly) http://identifiers.org/clinvar/99438 ^@ NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) http://identifiers.org/clinvar/99439 ^@ NM_000350.2(ABCA4):c.6238_6239delTC (p.Ser2080Hisfs) http://identifiers.org/clinvar/99440 ^@ NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) http://identifiers.org/clinvar/99441 ^@ NM_000350.2(ABCA4):c.6255C>T (p.Leu2085=) http://identifiers.org/clinvar/99442 ^@ NM_000350.2(ABCA4):c.6276G>A (p.Val2092=) http://identifiers.org/clinvar/99443 ^@ NM_000350.2(ABCA4):c.6282+7G>A http://identifiers.org/clinvar/99444 ^@ NM_000350.2(ABCA4):c.6285T>C (p.Asp2095=) http://identifiers.org/clinvar/99445 ^@ NM_000350.2(ABCA4):c.6286G>A (p.Glu2096Lys) http://identifiers.org/clinvar/99446 ^@ NM_000350.2(ABCA4):c.6300delG (p.Met2101Trpfs) http://identifiers.org/clinvar/99447 ^@ NM_000350.2(ABCA4):c.6316C>T (p.Arg2106Cys) http://identifiers.org/clinvar/99448 ^@ NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) http://identifiers.org/clinvar/99449 ^@ NM_000350.2(ABCA4):c.6320G>C (p.Arg2107Pro) http://identifiers.org/clinvar/99450 ^@ NM_000350.2(ABCA4):c.6329G>A (p.Trp2110Ter) http://identifiers.org/clinvar/99451 ^@ NM_000350.2(ABCA4):c.6339C>G (p.Ile2113Met) http://identifiers.org/clinvar/99452 ^@ NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) http://identifiers.org/clinvar/99453 ^@ NM_000350.2(ABCA4):c.6352delA (p.Arg2118Glufs) http://identifiers.org/clinvar/99454 ^@ NM_000350.2(ABCA4):c.635G>A (p.Arg212His) http://identifiers.org/clinvar/99455 ^@ NM_000350.2(ABCA4):c.6383A>G (p.His2128Arg) http://identifiers.org/clinvar/99456 ^@ NM_000350.2(ABCA4):c.6386+2C>G http://identifiers.org/clinvar/99457 ^@ NM_000350.2(ABCA4):c.6391G>A (p.Glu2131Lys) http://identifiers.org/clinvar/99458 ^@ NM_000350.2(ABCA4):c.6415C>T (p.Arg2139Trp) http://identifiers.org/clinvar/99459 ^@ NM_000350.2(ABCA4):c.6437G>A (p.Gly2146Asp) http://identifiers.org/clinvar/99460 ^@ NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) http://identifiers.org/clinvar/99461 ^@ NM_000350.2(ABCA4):c.6446G>T (p.Arg2149Leu) http://identifiers.org/clinvar/99462 ^@ NM_000350.2(ABCA4):c.6448T>C (p.Cys2150Arg) http://identifiers.org/clinvar/99463 ^@ NM_000350.2(ABCA4):c.6449G>A (p.Cys2150Tyr) http://identifiers.org/clinvar/99464 ^@ NM_000350.2(ABCA4):c.6479A>G (p.Lys2160Arg) http://identifiers.org/clinvar/99465 ^@ NM_000350.2(ABCA4):c.6498C>G (p.Ile2166Met) http://identifiers.org/clinvar/99466 ^@ NM_000350.2(ABCA4):c.6519_6529delCCCGAAGGACG (p.Lys2175Alafs) http://identifiers.org/clinvar/99467 ^@ NM_000350.2(ABCA4):c.6543_6578del36 (p.Leu2182_Phe2193del) http://identifiers.org/clinvar/99468 ^@ NM_000350.2(ABCA4):c.6563T>C (p.Phe2188Ser) http://identifiers.org/clinvar/99469 ^@ NM_000350.2(ABCA4):c.6568delC (p.Gln2190Argfs) http://identifiers.org/clinvar/99470 ^@ NM_000350.2(ABCA4):c.656G>C (p.Arg219Thr) http://identifiers.org/clinvar/99471 ^@ NM_000350.2(ABCA4):c.658C>T (p.Arg220Cys) http://identifiers.org/clinvar/99472 ^@ NM_000350.2(ABCA4):c.6601_6602delAG (p.Arg2201Alafs) http://identifiers.org/clinvar/99473 ^@ NM_000350.2(ABCA4):c.6609C>A (p.Tyr2203Ter) http://identifiers.org/clinvar/99476 ^@ NM_000350.2(ABCA4):c.6658C>T (p.Gln2220Ter) http://identifiers.org/clinvar/99477 ^@ NM_000350.2(ABCA4):c.666_676delAAAGACGGTGC (p.Lys223Leufs) http://identifiers.org/clinvar/99478 ^@ NM_000350.2(ABCA4):c.666_678delAAAGACGGTGCGC (p.Lys223Metfs) http://identifiers.org/clinvar/99479 ^@ NM_000350.2(ABCA4):c.667_678delAAGACGGTGCGC (p.Lys223_Arg226del) http://identifiers.org/clinvar/99480 ^@ NM_000350.2(ABCA4):c.667_680delAAGACGGTGCGCTA (p.Lys223Cysfs) http://identifiers.org/clinvar/99481 ^@ NM_000350.2(ABCA4):c.6686T>C (p.Leu2229Pro) http://identifiers.org/clinvar/99482 ^@ NM_000350.2(ABCA4):c.6693C>T (p.Ile2231=) http://identifiers.org/clinvar/99483 ^@ NM_000350.2(ABCA4):c.6707_6714delTCACACAG (p.Val2236Aspfs) http://identifiers.org/clinvar/99484 ^@ NM_000350.2(ABCA4):c.6708_6709insG (p.Thr2237Aspfs) http://identifiers.org/clinvar/99485 ^@ NM_000350.2(ABCA4):c.6709dupA (p.Thr2237Asnfs) http://identifiers.org/clinvar/99486 ^@ NM_000350.2(ABCA4):c.671delC (p.Thr224Argfs) http://identifiers.org/clinvar/99487 ^@ NM_000350.2(ABCA4):c.6721C>G (p.Leu2241Val) http://identifiers.org/clinvar/99488 ^@ NM_000350.2(ABCA4):c.6729+1G>A http://identifiers.org/clinvar/99489 ^@ NM_000350.2(ABCA4):c.6729+21C>T http://identifiers.org/clinvar/99490 ^@ NM_000350.2(ABCA4):c.6730-27C>G http://identifiers.org/clinvar/99491 ^@ NM_000350.2(ABCA4):c.6730-3T>C http://identifiers.org/clinvar/99492 ^@ NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) http://identifiers.org/clinvar/99493 ^@ NM_000350.2(ABCA4):c.6748delA (p.Lys2250Asnfs) http://identifiers.org/clinvar/99494 ^@ NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) http://identifiers.org/clinvar/99495 ^@ NM_000350.2(ABCA4):c.6788G>T (p.Arg2263Leu) http://identifiers.org/clinvar/99496 ^@ NM_000350.2(ABCA4):c.6813C>T (p.Ala2271=) http://identifiers.org/clinvar/99497 ^@ NM_000350.2(ABCA4):c.70C>T (p.Arg24Cys) http://identifiers.org/clinvar/99498 ^@ NM_000350.2(ABCA4):c.71G>A (p.Arg24His) http://identifiers.org/clinvar/99499 ^@ NM_000350.2(ABCA4):c.730_731delCT (p.Leu244Valfs) http://identifiers.org/clinvar/99500 ^@ NM_000350.2(ABCA4):c.731T>C (p.Leu244Pro) http://identifiers.org/clinvar/99501 ^@ NM_000350.2(ABCA4):c.740A>G (p.Asn247Ser) http://identifiers.org/clinvar/99502 ^@ NM_000350.2(ABCA4):c.740A>T (p.Asn247Ile) http://identifiers.org/clinvar/99503 ^@ NM_000350.2(ABCA4):c.746A>G (p.Asp249Gly) http://identifiers.org/clinvar/99504 ^@ NM_000350.2(ABCA4):c.763C>G (p.Arg255Gly) http://identifiers.org/clinvar/99505 ^@ NM_000350.2(ABCA4):c.768G>T (p.Val256=) http://identifiers.org/clinvar/99506 ^@ NM_000350.2(ABCA4):c.769-1G>T http://identifiers.org/clinvar/99507 ^@ NM_000350.2(ABCA4):c.769-32T>C http://identifiers.org/clinvar/99508 ^@ NM_000350.2(ABCA4):c.769-5T>G http://identifiers.org/clinvar/99509 ^@ NM_000350.2(ABCA4):c.832delT (p.Ser278Leufs) http://identifiers.org/clinvar/99510 ^@ NM_000350.2(ABCA4):c.859-11C>T http://identifiers.org/clinvar/99511 ^@ NM_000350.2(ABCA4):c.873G>A (p.Pro291=) http://identifiers.org/clinvar/99512 ^@ NM_000350.2(ABCA4):c.899C>A (p.Thr300Asn) http://identifiers.org/clinvar/99513 ^@ NM_000350.2(ABCA4):c.926C>G (p.Pro309Arg) http://identifiers.org/clinvar/99514 ^@ NM_000350.2(ABCA4):c.928G>C (p.Glu310Gln) http://identifiers.org/clinvar/99515 ^@ NM_000350.2(ABCA4):c.933C>T (p.Thr311=) http://identifiers.org/clinvar/99516 ^@ NM_000350.2(ABCA4):c.981C>T (p.Pro327=) http://identifiers.org/clinvar/99517 ^@ NM_000350.2(ABCA4):c.982G>T (p.Glu328Ter) http://identifiers.org/clinvar/99518 ^@ NM_000350.2(ABCA4):c.983A>T (p.Glu328Val) http://identifiers.org/clinvar/99519 ^@ NM_000350.2(ABCA4):c.989G>A (p.Gly330Asp) http://identifiers.org/clinvar/99520 ^@ NM_000350.2(ABCA4):c.997C>T (p.Arg333Trp) http://identifiers.org/clinvar/99521 ^@ NM_000372.4(TYR):c.-683_-682insG http://identifiers.org/clinvar/99522 ^@ NM_000372.4(TYR):c.-692_-691insC http://identifiers.org/clinvar/99523 ^@ NM_000372.4(TYR):c.-802_-801insGAGAGGGAGA http://identifiers.org/clinvar/99524 ^@ NM_000372.4(TYR):c.1015A>G (p.Ser339Gly) http://identifiers.org/clinvar/99525 ^@ NM_000372.4(TYR):c.1018T>C (p.Phe340Leu) http://identifiers.org/clinvar/99526 ^@ NM_000372.4(TYR):c.1037-1G>A http://identifiers.org/clinvar/99527 ^@ NM_000372.4(TYR):c.1037-7T>A http://identifiers.org/clinvar/99528 ^@ NM_000372.4(TYR):c.1063G>C (p.Ala355Pro) http://identifiers.org/clinvar/99529 ^@ NM_000372.4(TYR):c.1075C>T (p.Gln359Ter) http://identifiers.org/clinvar/99530 ^@ NM_000372.4(TYR):c.107G>A (p.Cys36Tyr) http://identifiers.org/clinvar/99531 ^@ NM_000372.4(TYR):c.1081A>C (p.Ser361Arg) http://identifiers.org/clinvar/99532 ^@ NM_000372.4(TYR):c.1100A>G (p.His367Arg) http://identifiers.org/clinvar/99533 ^@ NM_000372.4(TYR):c.1109T>C (p.Met370Thr) http://identifiers.org/clinvar/99534 ^@ NM_000372.4(TYR):c.1111A>T (p.Asn371Tyr) http://identifiers.org/clinvar/99535 ^@ NM_000372.4(TYR):c.1126C>T (p.Gln376Ter) http://identifiers.org/clinvar/99536 ^@ NM_000372.4(TYR):c.1132C>T (p.Gln378Ter) http://identifiers.org/clinvar/99537 ^@ NM_000372.4(TYR):c.1138T>C (p.Ser380Pro) http://identifiers.org/clinvar/99538 ^@ NM_000372.4(TYR):c.1161delT (p.Leu388Phefs) http://identifiers.org/clinvar/99539 ^@ NM_000372.4(TYR):c.1168C>G (p.His390Asp) http://identifiers.org/clinvar/99540 ^@ NM_000372.4(TYR):c.1183A>G (p.Ser395Gly) http://identifiers.org/clinvar/99541 ^@ NM_000372.4(TYR):c.1199G>T (p.Trp400Leu) http://identifiers.org/clinvar/99542 ^@ NM_000372.4(TYR):c.1204C>T (p.Arg402Ter) http://identifiers.org/clinvar/99543 ^@ NM_000372.4(TYR):c.1211A>C (p.His404Pro) http://identifiers.org/clinvar/99544 ^@ NM_000372.4(TYR):c.1292C>T (p.Pro431Leu) http://identifiers.org/clinvar/99545 ^@ NM_000372.4(TYR):c.1314_1317delCTTT (p.Phe438Leufs) http://identifiers.org/clinvar/99546 ^@ NM_000372.4(TYR):c.1315T>G (p.Phe439Val) http://identifiers.org/clinvar/99547 ^@ NM_000372.4(TYR):c.1357C>T (p.Gln453Ter) http://identifiers.org/clinvar/99548 ^@ NM_000372.4(TYR):c.1366+4A>G http://identifiers.org/clinvar/99549 ^@ NM_000372.4(TYR):c.1366+5A>G http://identifiers.org/clinvar/99550 ^@ NM_000372.4(TYR):c.149C>G (p.Ser50Ter) http://identifiers.org/clinvar/99551 ^@ NM_000372.4(TYR):c.155G>T (p.Arg52Ile) http://identifiers.org/clinvar/99552 ^@ NM_000372.4(TYR):c.223delG (p.Asp75Metfs) http://identifiers.org/clinvar/99553 ^@ NM_000372.4(TYR):c.229C>T (p.Arg77Trp) http://identifiers.org/clinvar/99554 ^@ NM_000372.4(TYR):c.231_232insGGG (p.Arg77_Glu78insGly) http://identifiers.org/clinvar/99555 ^@ NM_000372.4(TYR):c.232G>T (p.Glu78Ter) http://identifiers.org/clinvar/99556 ^@ NM_000372.4(TYR):c.238T>C (p.Trp80Arg) http://identifiers.org/clinvar/99557 ^@ NM_000372.4(TYR):c.240G>A (p.Trp80Ter) http://identifiers.org/clinvar/99558 ^@ NM_000372.4(TYR):c.25delC (p.Leu9Cysfs) http://identifiers.org/clinvar/99560 ^@ NM_000372.4(TYR):c.289G>A (p.Gly97Arg) http://identifiers.org/clinvar/99561 ^@ NM_000372.4(TYR):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/99562 ^@ NM_000372.4(TYR):c.325G>A (p.Gly109Arg) http://identifiers.org/clinvar/99563 ^@ NM_000372.4(TYR):c.336_337delCA (p.Thr113Argfs) http://identifiers.org/clinvar/99564 ^@ NM_000372.4(TYR):c.340_341delGA (p.Arg115Thrfs) http://identifiers.org/clinvar/99565 ^@ NM_000372.4(TYR):c.346C>T (p.Arg116Ter) http://identifiers.org/clinvar/99566 ^@ NM_000372.4(TYR):c.456C>T (p.Pro152=) http://identifiers.org/clinvar/99567 ^@ NM_000372.4(TYR):c.458dupT (p.Gly154Argfs) http://identifiers.org/clinvar/99568 ^@ NM_000372.4(TYR):c.526T>A (p.Phe176Ile) http://identifiers.org/clinvar/99569 ^@ NM_000372.4(TYR):c.52delG (p.Gly18Alafs) http://identifiers.org/clinvar/99570 ^@ NM_000372.4(TYR):c.572delG (p.Gly191Aspfs) http://identifiers.org/clinvar/99571 ^@ NM_000372.4(TYR):c.57T>A (p.His19Gln) http://identifiers.org/clinvar/99572 ^@ NM_000372.4(TYR):c.613C>A (p.Pro205Thr) http://identifiers.org/clinvar/99573 ^@ NM_000372.4(TYR):c.649C>G (p.Arg217Gly) http://identifiers.org/clinvar/99574 ^@ NM_000372.4(TYR):c.649delC (p.Arg217Glyfs) http://identifiers.org/clinvar/99575 ^@ NM_000372.4(TYR):c.650G>A (p.Arg217Gln) http://identifiers.org/clinvar/99576 ^@ NM_000372.4(TYR):c.678_680delAGG (p.Gly227del) http://identifiers.org/clinvar/99577 ^@ NM_000372.4(TYR):c.707G>C (p.Trp236Ser) http://identifiers.org/clinvar/99579 ^@ NM_000372.4(TYR):c.757G>A (p.Gly253Arg) http://identifiers.org/clinvar/99580 ^@ NM_000372.4(TYR):c.766C>T (p.His256Tyr) http://identifiers.org/clinvar/99581 ^@ NM_000372.4(TYR):c.816G>C (p.Trp272Cys) http://identifiers.org/clinvar/99582 ^@ NM_000372.4(TYR):c.820-3C>G http://identifiers.org/clinvar/99583 ^@ NM_000372.4(TYR):c.832C>T (p.Arg278Ter) http://identifiers.org/clinvar/99584 ^@ NM_000372.4(TYR):c.841delG (p.Glu281Serfs) http://identifiers.org/clinvar/99585 ^@ NM_000372.4(TYR):c.875C>T (p.Thr292Met) http://identifiers.org/clinvar/99586 ^@ NM_000372.4(TYR):c.891A>G (p.Leu297=) http://identifiers.org/clinvar/99587 ^@ NM_000372.4(TYR):c.895C>A (p.Arg299Ser) http://identifiers.org/clinvar/99588 ^@ NM_000372.4(TYR):c.934C>G (p.Leu312Val) http://identifiers.org/clinvar/99589 ^@ NM_000372.4(TYR):c.938C>G (p.Pro313Arg) http://identifiers.org/clinvar/99590 ^@ NM_000372.4(TYR):c.973A>G (p.Thr325Ala) http://identifiers.org/clinvar/99591 ^@ NM_000372.4(TYR):c.982G>C (p.Glu328Gln) http://identifiers.org/clinvar/99592 ^@ NM_000554.5(CRX):c.100+12C>T http://identifiers.org/clinvar/99593 ^@ NM_000554.5(CRX):c.100+2T>C http://identifiers.org/clinvar/99594 ^@ NM_000554.5(CRX):c.101-13C>G http://identifiers.org/clinvar/99595 ^@ NM_000554.5(CRX):c.101-65A>T http://identifiers.org/clinvar/99596 ^@ NM_000554.5(CRX):c.166G>A (p.Ala56Thr) http://identifiers.org/clinvar/99597 ^@ NM_000554.5(CRX):c.196G>A (p.Val66Ile) http://identifiers.org/clinvar/99598 ^@ NM_000554.5(CRX):c.21dupG (p.Pro9Alafs) http://identifiers.org/clinvar/99599 ^@ NM_000554.5(CRX):c.238G>A (p.Glu80Lys) http://identifiers.org/clinvar/99600 ^@ NM_000554.5(CRX):c.253-15G>A http://identifiers.org/clinvar/99601 ^@ NM_000554.5(CRX):c.253-18T>A http://identifiers.org/clinvar/99602 ^@ NM_000554.5(CRX):c.335C>T (p.Ala112Val) http://identifiers.org/clinvar/99603 ^@ NM_000554.5(CRX):c.351dupC (p.Lys118Glnfs) http://identifiers.org/clinvar/99604 ^@ NM_000554.5(CRX):c.365G>A (p.Gly122Asp) http://identifiers.org/clinvar/99605 ^@ NM_000554.5(CRX):c.425A>G (p.Tyr142Cys) http://identifiers.org/clinvar/99606 ^@ NM_000554.5(CRX):c.436_447delCTGCCCGGCCCC (p.Leu146_Pro149del) http://identifiers.org/clinvar/99607 ^@ NM_000554.5(CRX):c.444dupC (p.Ser150Leufs) http://identifiers.org/clinvar/99608 ^@ NM_000554.5(CRX):c.472G>A (p.Ala158Thr) http://identifiers.org/clinvar/99609 ^@ NM_000554.5(CRX):c.501_502delAG (p.Glu168Valfs) http://identifiers.org/clinvar/99610 ^@ NM_000554.5(CRX):c.505delT (p.Ser169Profs) http://identifiers.org/clinvar/99611 ^@ NM_000554.5(CRX):c.520delG (p.Ala174Argfs) http://identifiers.org/clinvar/99612 ^@ NM_000554.5(CRX):c.541delG (p.Ala181Profs) http://identifiers.org/clinvar/99613 ^@ NM_000554.5(CRX):c.549G>A (p.Gly183=) http://identifiers.org/clinvar/99614 ^@ NM_000554.5(CRX):c.571delT (p.Tyr191Metfs) http://identifiers.org/clinvar/99615 ^@ NM_000554.5(CRX):c.585dupC (p.Ala196Argfs) http://identifiers.org/clinvar/99616 ^@ NM_000554.5(CRX):c.587_590delCCCC (p.Ala196Glyfs) http://identifiers.org/clinvar/99617 ^@ NM_000554.5(CRX):c.597C>T (p.Ser199=) http://identifiers.org/clinvar/99618 ^@ NM_000554.5(CRX):c.615delC (p.Ser206Profs) http://identifiers.org/clinvar/99619 ^@ NM_000554.5(CRX):c.650delG (p.Gly217Alafs) http://identifiers.org/clinvar/99620 ^@ NM_000554.5(CRX):c.709delC (p.Leu237Serfs) http://identifiers.org/clinvar/99621 ^@ NM_000554.5(CRX):c.724G>A (p.Val242Met) http://identifiers.org/clinvar/99622 ^@ NM_000554.5(CRX):c.753delC (p.Ser252Profs) http://identifiers.org/clinvar/99623 ^@ NM_000554.5(CRX):c.789delC (p.Val264Trpfs) http://identifiers.org/clinvar/99624 ^@ NM_000554.5(CRX):c.818C>T (p.Thr273Met) http://identifiers.org/clinvar/99625 ^@ NM_000843.3(GRM6):c.1131C>T (p.Asp377=) http://identifiers.org/clinvar/99626 ^@ NM_000843.3(GRM6):c.1227C>T (p.Tyr409=) http://identifiers.org/clinvar/99627 ^@ NM_000843.3(GRM6):c.1353T>C (p.Asn451=) http://identifiers.org/clinvar/99628 ^@ NM_000843.3(GRM6):c.1392A>G (p.Gly464=) http://identifiers.org/clinvar/99629 ^@ NM_000843.3(GRM6):c.1500+23A>G http://identifiers.org/clinvar/99630 ^@ NM_000843.3(GRM6):c.1566C>T (p.Cys522=) http://identifiers.org/clinvar/99631 ^@ NM_000843.3(GRM6):c.172G>C (p.Gly58Arg) http://identifiers.org/clinvar/99632 ^@ NM_000843.3(GRM6):c.1732C>T (p.Arg578Cys) http://identifiers.org/clinvar/99633 ^@ NM_000843.3(GRM6):c.1748C>T (p.Ser583Phe) http://identifiers.org/clinvar/99634 ^@ NM_000843.3(GRM6):c.1766C>T (p.Pro589Leu) http://identifiers.org/clinvar/99635 ^@ NM_000843.3(GRM6):c.1848C>T (p.Val616=) http://identifiers.org/clinvar/99636 ^@ NM_000843.3(GRM6):c.1887C>T (p.Thr629=) http://identifiers.org/clinvar/99637 ^@ NM_000843.3(GRM6):c.1944G>T (p.Ala648=) http://identifiers.org/clinvar/99638 ^@ NM_000843.3(GRM6):c.1953C>T (p.Ala651=) http://identifiers.org/clinvar/99639 ^@ NM_000843.3(GRM6):c.1956C>T (p.Ala652=) http://identifiers.org/clinvar/99640 ^@ NM_000843.3(GRM6):c.1958G>A (p.Arg653His) http://identifiers.org/clinvar/99641 ^@ NM_000843.3(GRM6):c.2092C>G (p.Leu698Val) http://identifiers.org/clinvar/99642 ^@ NM_000843.3(GRM6):c.2134A>G (p.Met712Val) http://identifiers.org/clinvar/99643 ^@ NM_000843.3(GRM6):c.2196G>A (p.Thr732=) http://identifiers.org/clinvar/99644 ^@ NM_000843.3(GRM6):c.2397C>T (p.Phe799=) http://identifiers.org/clinvar/99645 ^@ NM_000843.3(GRM6):c.2420C>T (p.Ala807Val) http://identifiers.org/clinvar/99646 ^@ NM_000843.3(GRM6):c.2436+46A>C http://identifiers.org/clinvar/99647 ^@ NM_000843.3(GRM6):c.2436+55G>A http://identifiers.org/clinvar/99648 ^@ NM_000843.3(GRM6):c.2437-6G>A http://identifiers.org/clinvar/99649 ^@ NM_000843.3(GRM6):c.261C>T (p.Pro87=) http://identifiers.org/clinvar/99650 ^@ NM_000843.3(GRM6):c.336C>T (p.Phe112=) http://identifiers.org/clinvar/99651 ^@ NM_000843.3(GRM6):c.352C>A (p.Arg118Ser) http://identifiers.org/clinvar/99652 ^@ NM_000843.3(GRM6):c.504+66A>C http://identifiers.org/clinvar/99653 ^@ NM_000843.3(GRM6):c.57_75dup19 (p.Leu26Valfs) http://identifiers.org/clinvar/99654 ^@ NM_000843.3(GRM6):c.664G>A (p.Glu222Lys) http://identifiers.org/clinvar/99655 ^@ NM_000843.3(GRM6):c.686G>A (p.Gly229Glu) http://identifiers.org/clinvar/99656 ^@ NM_000843.3(GRM6):c.721+83G>T http://identifiers.org/clinvar/99657 ^@ NM_000843.3(GRM6):c.727G>T (p.Val243Phe) http://identifiers.org/clinvar/99658 ^@ NM_000843.3(GRM6):c.727dupG (p.Val243Glyfs) http://identifiers.org/clinvar/99659 ^@ NM_000843.3(GRM6):c.733A>G (p.Ile245Val) http://identifiers.org/clinvar/99660 ^@ NM_000843.3(GRM6):c.83G>A (p.Arg28His) http://identifiers.org/clinvar/99661 ^@ NM_003322.5(TULP1):c.1362G>A (p.Thr454=) http://identifiers.org/clinvar/99662 ^@ NM_003322.5(TULP1):c.1375A>C (p.Ile459Leu) http://identifiers.org/clinvar/99663 ^@ NM_003322.5(TULP1):c.1466A>G (p.Lys489Arg) http://identifiers.org/clinvar/99664 ^@ NM_003322.5(TULP1):c.1486G>A (p.Ala496Thr) http://identifiers.org/clinvar/99665 ^@ NM_003322.5(TULP1):c.1495+1G>A http://identifiers.org/clinvar/99666 ^@ NM_003322.5(TULP1):c.1496-6C>A http://identifiers.org/clinvar/99667 ^@ NM_003322.5(TULP1):c.350-2_350delAGA http://identifiers.org/clinvar/99669 ^@ NM_003322.5(TULP1):c.719-19T>A http://identifiers.org/clinvar/99670 ^@ NM_003322.5(TULP1):c.734C>T (p.Ala245Val) http://identifiers.org/clinvar/99671 ^@ NM_003322.5(TULP1):c.776T>C (p.Ile259Thr) http://identifiers.org/clinvar/99672 ^@ NM_003322.5(TULP1):c.805A>C (p.Lys269Gln) http://identifiers.org/clinvar/99673 ^@ NM_003322.5(TULP1):c.823-4A>C http://identifiers.org/clinvar/99674 ^@ NM_003322.5(TULP1):c.897delC (p.Gln301Argfs) http://identifiers.org/clinvar/99675 ^@ NM_003322.5(TULP1):c.99+1G>A http://identifiers.org/clinvar/99676 ^@ NM_004183.3(BEST1):c.1023C>T (p.Pro341=) http://identifiers.org/clinvar/99677 ^@ NM_004183.3(BEST1):c.1026G>A (p.Glu342=) http://identifiers.org/clinvar/99678 ^@ NM_004183.3(BEST1):c.109T>C (p.Leu37=) http://identifiers.org/clinvar/99680 ^@ NM_004183.3(BEST1):c.1557C>T (p.Ser519=) http://identifiers.org/clinvar/99681 ^@ NM_004183.3(BEST1):c.1574A>C (p.Glu525Ala) http://identifiers.org/clinvar/99682 ^@ NM_004183.3(BEST1):c.1608T>C (p.Thr536=) http://identifiers.org/clinvar/99683 ^@ NM_004183.3(BEST1):c.165G>A (p.Thr55=) http://identifiers.org/clinvar/99684 ^@ NM_004183.3(BEST1):c.1669G>A (p.Glu557Lys) http://identifiers.org/clinvar/99685 ^@ NM_004183.3(BEST1):c.1681A>G (p.Thr561Ala) http://identifiers.org/clinvar/99686 ^@ NM_004183.3(BEST1):c.1699C>T (p.Leu567Phe) http://identifiers.org/clinvar/99687 ^@ NM_004183.3(BEST1):c.173A>T (p.Gln58Leu) http://identifiers.org/clinvar/99688 ^@ NM_004183.3(BEST1):c.1740-27T>C http://identifiers.org/clinvar/99689 ^@ NM_004183.3(BEST1):c.17C>G (p.Thr6Arg) http://identifiers.org/clinvar/99690 ^@ NM_004183.3(BEST1):c.*88_*89insG http://identifiers.org/clinvar/99691 ^@ NM_004183.3(BEST1):c.201G>C (p.Leu67=) http://identifiers.org/clinvar/99692 ^@ NM_004183.3(BEST1):c.217A>C (p.Ile73Leu) http://identifiers.org/clinvar/99693 ^@ NM_004183.3(BEST1):c.219C>A (p.Ile73=) http://identifiers.org/clinvar/99694 ^@ NM_004183.3(BEST1):c.222G>A (p.Gln74=) http://identifiers.org/clinvar/99695 ^@ NM_004183.3(BEST1):c.240C>A (p.Phe80Leu) http://identifiers.org/clinvar/99696 ^@ NM_004183.3(BEST1):c.244C>G (p.Leu82Val) http://identifiers.org/clinvar/99697 ^@ NM_004183.3(BEST1):c.248-12C>T http://identifiers.org/clinvar/99698 ^@ NM_004183.3(BEST1):c.248-26C>T http://identifiers.org/clinvar/99699 ^@ NM_004183.3(BEST1):c.248-32C>T http://identifiers.org/clinvar/99700 ^@ NM_004183.3(BEST1):c.26T>C (p.Val9Ala) http://identifiers.org/clinvar/99701 ^@ NM_004183.3(BEST1):c.272C>T (p.Thr91Ile) http://identifiers.org/clinvar/99702 ^@ NM_004183.3(BEST1):c.274C>A (p.Arg92Ser) http://identifiers.org/clinvar/99703 ^@ NM_004183.3(BEST1):c.274C>T (p.Arg92Cys) http://identifiers.org/clinvar/99704 ^@ NM_004183.3(BEST1):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/99705 ^@ NM_004183.3(BEST1):c.288G>C (p.Gln96His) http://identifiers.org/clinvar/99706 ^@ NM_004183.3(BEST1):c.28G>A (p.Ala10Thr) http://identifiers.org/clinvar/99707 ^@ NM_004183.3(BEST1):c.297C>A (p.Asn99Lys) http://identifiers.org/clinvar/99708 ^@ NM_004183.3(BEST1):c.299T>G (p.Leu100Arg) http://identifiers.org/clinvar/99709 ^@ NM_004183.3(BEST1):c.29C>T (p.Ala10Val) http://identifiers.org/clinvar/99710 ^@ NM_004183.3(BEST1):c.301C>A (p.Pro101Thr) http://identifiers.org/clinvar/99711 ^@ NM_004183.3(BEST1):c.304T>C (p.Trp102Arg) http://identifiers.org/clinvar/99712 ^@ NM_004183.3(BEST1):c.310G>C (p.Asp104His) http://identifiers.org/clinvar/99713 ^@ NM_004183.3(BEST1):c.312C>A (p.Asp104Glu) http://identifiers.org/clinvar/99714 ^@ NM_004183.3(BEST1):c.313C>T (p.Arg105Cys) http://identifiers.org/clinvar/99715 ^@ NM_004183.3(BEST1):c.32A>T (p.Asn11Ile) http://identifiers.org/clinvar/99716 ^@ NM_004183.3(BEST1):c.33T>C (p.Asn11=) http://identifiers.org/clinvar/99717 ^@ NM_004183.3(BEST1):c.38G>A (p.Arg13His) http://identifiers.org/clinvar/99718 ^@ NM_004183.3(BEST1):c.399C>G (p.Asn133Lys) http://identifiers.org/clinvar/99719 ^@ NM_004183.3(BEST1):c.403G>A (p.Gly135Ser) http://identifiers.org/clinvar/99720 ^@ NM_004183.3(BEST1):c.419T>G (p.Leu140Arg) http://identifiers.org/clinvar/99721 ^@ NM_004183.3(BEST1):c.421C>A (p.Arg141Ser) http://identifiers.org/clinvar/99722 ^@ NM_004183.3(BEST1):c.445A>T (p.Lys149Ter) http://identifiers.org/clinvar/99723 ^@ NM_004183.3(BEST1):c.47C>T (p.Ser16Phe) http://identifiers.org/clinvar/99724 ^@ NM_004183.3(BEST1):c.50T>G (p.Phe17Cys) http://identifiers.org/clinvar/99725 ^@ NM_004183.3(BEST1):c.584C>T (p.Ala195Val) http://identifiers.org/clinvar/99726 ^@ NM_004183.3(BEST1):c.602T>C (p.Ile201Thr) http://identifiers.org/clinvar/99727 ^@ NM_004183.3(BEST1):c.619C>A (p.Leu207Ile) http://identifiers.org/clinvar/99728 ^@ NM_004183.3(BEST1):c.61C>G (p.Leu21Val) http://identifiers.org/clinvar/99729 ^@ NM_004183.3(BEST1):c.624G>A (p.Gln208=) http://identifiers.org/clinvar/99730 ^@ NM_004183.3(BEST1):c.626G>A (p.Ser209Asn) http://identifiers.org/clinvar/99731 ^@ NM_004183.3(BEST1):c.636+1G>C http://identifiers.org/clinvar/99732 ^@ NM_004183.3(BEST1):c.637-6C>T http://identifiers.org/clinvar/99733 ^@ NM_004183.3(BEST1):c.647C>T (p.Thr216Ile) http://identifiers.org/clinvar/99734 ^@ NM_004183.3(BEST1):c.652C>A (p.Arg218Ser) http://identifiers.org/clinvar/99735 ^@ NM_004183.3(BEST1):c.652C>T (p.Arg218Cys) http://identifiers.org/clinvar/99736 ^@ NM_004183.3(BEST1):c.653G>A (p.Arg218His) http://identifiers.org/clinvar/99737 ^@ NM_004183.3(BEST1):c.654T>C (p.Arg218=) http://identifiers.org/clinvar/99738 ^@ NM_004183.3(BEST1):c.663T>G (p.Cys221Trp) http://identifiers.org/clinvar/99739 ^@ NM_004183.3(BEST1):c.665G>T (p.Gly222Val) http://identifiers.org/clinvar/99740 ^@ NM_004183.3(BEST1):c.670C>A (p.Leu224Met) http://identifiers.org/clinvar/99741 ^@ NM_004183.3(BEST1):c.671T>C (p.Leu224Pro) http://identifiers.org/clinvar/99742 ^@ NM_004183.3(BEST1):c.693T>G (p.Ser231Arg) http://identifiers.org/clinvar/99743 ^@ NM_004183.3(BEST1):c.696C>A (p.Ile232=) http://identifiers.org/clinvar/99744 ^@ NM_004183.3(BEST1):c.703G>A (p.Val235Met) http://identifiers.org/clinvar/99745 ^@ NM_004183.3(BEST1):c.703G>C (p.Val235Leu) http://identifiers.org/clinvar/99746 ^@ NM_004183.3(BEST1):c.710C>G (p.Thr237Arg) http://identifiers.org/clinvar/99747 ^@ NM_004183.3(BEST1):c.720G>C (p.Val240=) http://identifiers.org/clinvar/99748 ^@ NM_004183.3(BEST1):c.722C>A (p.Thr241Asn) http://identifiers.org/clinvar/99749 ^@ NM_004183.3(BEST1):c.727G>A (p.Ala243Thr) http://identifiers.org/clinvar/99750 ^@ NM_004183.3(BEST1):c.72G>T (p.Trp24Cys) http://identifiers.org/clinvar/99751 ^@ NM_004183.3(BEST1):c.73C>T (p.Arg25Trp) http://identifiers.org/clinvar/99752 ^@ NM_004183.3(BEST1):c.74G>A (p.Arg25Gln) http://identifiers.org/clinvar/99753 ^@ NM_004183.3(BEST1):c.81C>G (p.Ser27Arg) http://identifiers.org/clinvar/99754 ^@ NM_004183.3(BEST1):c.823G>A (p.Val275Ile) http://identifiers.org/clinvar/99755 ^@ NM_004183.3(BEST1):c.828C>G (p.Phe276Leu) http://identifiers.org/clinvar/99756 ^@ NM_004183.3(BEST1):c.847_849delTTC (p.Phe283del) http://identifiers.org/clinvar/99757 ^@ NM_004183.3(BEST1):c.85T>C (p.Tyr29His) http://identifiers.org/clinvar/99758 ^@ NM_004183.3(BEST1):c.877C>A (p.Gln293Lys) http://identifiers.org/clinvar/99759 ^@ NM_004183.3(BEST1):c.87C>T (p.Tyr29=) http://identifiers.org/clinvar/99760 ^@ NM_004183.3(BEST1):c.880C>G (p.Leu294Val) http://identifiers.org/clinvar/99762 ^@ NM_004183.3(BEST1):c.884T>C (p.Ile295Thr) http://identifiers.org/clinvar/99763 ^@ NM_004183.3(BEST1):c.886A>C (p.Asn296His) http://identifiers.org/clinvar/99764 ^@ NM_004183.3(BEST1):c.887A>G (p.Asn296Ser) http://identifiers.org/clinvar/99765 ^@ NM_004183.3(BEST1):c.889C>G (p.Pro297Ala) http://identifiers.org/clinvar/99766 ^@ NM_004183.3(BEST1):c.889C>T (p.Pro297Ser) http://identifiers.org/clinvar/99767 ^@ NM_004183.3(BEST1):c.893T>C (p.Phe298Ser) http://identifiers.org/clinvar/99768 ^@ NM_004183.3(BEST1):c.898G>A (p.Glu300Lys) http://identifiers.org/clinvar/99769 ^@ NM_004183.3(BEST1):c.89A>G (p.Lys30Arg) http://identifiers.org/clinvar/99770 ^@ NM_004183.3(BEST1):c.900G>C (p.Glu300Asp) http://identifiers.org/clinvar/99771 ^@ NM_004183.3(BEST1):c.901G>A (p.Asp301Asn) http://identifiers.org/clinvar/99772 ^@ NM_004183.3(BEST1):c.901_903delGAT (p.Asp304del) http://identifiers.org/clinvar/99773 ^@ NM_004183.3(BEST1):c.903T>G (p.Asp301Glu) http://identifiers.org/clinvar/99774 ^@ NM_004183.3(BEST1):c.904G>C (p.Asp302His) http://identifiers.org/clinvar/99775 ^@ NM_004183.3(BEST1):c.905A>G (p.Asp302Gly) http://identifiers.org/clinvar/99776 ^@ NM_004183.3(BEST1):c.905A>T (p.Asp302Val) http://identifiers.org/clinvar/99777 ^@ NM_004183.3(BEST1):c.909T>A (p.Asp303Glu) http://identifiers.org/clinvar/99778 ^@ NM_004183.3(BEST1):c.914T>C (p.Phe305Ser) http://identifiers.org/clinvar/99779 ^@ NM_004183.3(BEST1):c.917A>G (p.Glu306Gly) http://identifiers.org/clinvar/99780 ^@ NM_004183.3(BEST1):c.918G>C (p.Glu306Asp) http://identifiers.org/clinvar/99781 ^@ NM_004183.3(BEST1):c.919A>G (p.Thr307Ala) http://identifiers.org/clinvar/99782 ^@ NM_004183.3(BEST1):c.920C>T (p.Thr307Ile) http://identifiers.org/clinvar/99783 ^@ NM_004183.3(BEST1):c.923A>G (p.Asn308Ser) http://identifiers.org/clinvar/99784 ^@ NM_004183.3(BEST1):c.929T>C (p.Ile310Thr) http://identifiers.org/clinvar/99785 ^@ NM_004183.3(BEST1):c.933C>T (p.Val311=) http://identifiers.org/clinvar/99786 ^@ NM_004183.3(BEST1):c.934G>A (p.Asp312Asn) http://identifiers.org/clinvar/99787 ^@ NM_004183.3(BEST1):c.949-21delT http://identifiers.org/clinvar/99788 ^@ NM_004744.4(LRAT):c.342G>A (p.Glu114=) http://identifiers.org/clinvar/99789 ^@ NM_014336.4(AIPL1):c.111C>T (p.Phe37=) http://identifiers.org/clinvar/99790 ^@ NM_014336.4(AIPL1):c.157C>T (p.Arg53Trp) http://identifiers.org/clinvar/99791 ^@ NM_014336.4(AIPL1):c.234C>T (p.Ser78=) http://identifiers.org/clinvar/99792 ^@ NM_014336.4(AIPL1):c.236T>C (p.Met79Thr) http://identifiers.org/clinvar/99793 ^@ NM_014336.4(AIPL1):c.264G>A (p.Trp88Ter) http://identifiers.org/clinvar/99794 ^@ NM_014336.4(AIPL1):c.268G>C (p.Asp90His) http://identifiers.org/clinvar/99795 ^@ NM_014336.4(AIPL1):c.276+66G>C http://identifiers.org/clinvar/99796 ^@ NM_014336.4(AIPL1):c.277-10A>C http://identifiers.org/clinvar/99797 ^@ NM_014336.4(AIPL1):c.277-14G>A http://identifiers.org/clinvar/99798 ^@ NM_014336.4(AIPL1):c.277-2A>G http://identifiers.org/clinvar/99799 ^@ NM_014336.4(AIPL1):c.277-88C>T http://identifiers.org/clinvar/99800 ^@ NM_014336.4(AIPL1):c.286G>A (p.Val96Ile) http://identifiers.org/clinvar/99801 ^@ NM_014336.4(AIPL1):c.341C>T (p.Thr114Ile) http://identifiers.org/clinvar/99802 ^@ NM_014336.4(AIPL1):c.466-22T>C http://identifiers.org/clinvar/99803 ^@ NM_014336.4(AIPL1):c.466-25C>T http://identifiers.org/clinvar/99804 ^@ NM_014336.4(AIPL1):c.487C>T (p.Gln163Ter) http://identifiers.org/clinvar/99805 ^@ NM_014336.4(AIPL1):c.651A>G (p.Pro217=) http://identifiers.org/clinvar/99806 ^@ NM_014336.4(AIPL1):c.765T>C (p.Asp255=) http://identifiers.org/clinvar/99807 ^@ NM_014336.4(AIPL1):c.784+18G>A http://identifiers.org/clinvar/99808 ^@ NM_014336.4(AIPL1):c.97-9G>A http://identifiers.org/clinvar/99809 ^@ NM_020366.3(RPGRIP1):c.1103delA (p.Glu370Asnfs) http://identifiers.org/clinvar/99810 ^@ NM_020366.3(RPGRIP1):c.1525C>T (p.Gln509Ter) http://identifiers.org/clinvar/99811 ^@ NM_020366.3(RPGRIP1):c.1707T>G (p.Asn569Lys) http://identifiers.org/clinvar/99812 ^@ NM_020366.3(RPGRIP1):c.1797G>A (p.Pro599=) http://identifiers.org/clinvar/99813 ^@ NM_020366.3(RPGRIP1):c.195G>A (p.Trp65Ter) http://identifiers.org/clinvar/99814 ^@ NM_020366.3(RPGRIP1):c.2237G>A (p.Gly746Glu) http://identifiers.org/clinvar/99815 ^@ NM_020366.3(RPGRIP1):c.2565_2566insTT (p.Leu856Phefs) http://identifiers.org/clinvar/99816 ^@ NM_020366.3(RPGRIP1):c.256C>T (p.Arg86Trp) http://identifiers.org/clinvar/99817 ^@ NM_020366.3(RPGRIP1):c.2627A>G (p.Asp876Gly) http://identifiers.org/clinvar/99818 ^@ NM_020366.3(RPGRIP1):c.2759dupA (p.Val921Serfs) http://identifiers.org/clinvar/99819 ^@ NM_020366.3(RPGRIP1):c.287C>A (p.Pro96Gln) http://identifiers.org/clinvar/99820 ^@ NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) http://identifiers.org/clinvar/99821 ^@ NM_020366.3(RPGRIP1):c.3609delT (p.Gln1204Lysfs) http://identifiers.org/clinvar/99822 ^@ NM_020366.3(RPGRIP1):c.3628_3629insG (p.Thr1210Serfs) http://identifiers.org/clinvar/99823 ^@ NM_020366.3(RPGRIP1):c.3780A>T (p.Ile1260=) http://identifiers.org/clinvar/99824 ^@ NM_020366.3(RPGRIP1):c.3835_3837delGAG (p.Glu1279del) http://identifiers.org/clinvar/99825 ^@ NM_020366.3(RPGRIP1):c.511delT (p.Tyr171Thrfs) http://identifiers.org/clinvar/99826 ^@ NM_020366.3(RPGRIP1):c.525A>G (p.Pro175=) http://identifiers.org/clinvar/99827 ^@ NM_020366.3(RPGRIP1):c.574A>G (p.Lys192Glu) http://identifiers.org/clinvar/99828 ^@ NM_022567.2(NYX):c.1040T>C (p.Leu347Pro) http://identifiers.org/clinvar/99829 ^@ NM_022567.2(NYX):c.1109G>T (p.Gly370Val) http://identifiers.org/clinvar/99830 ^@ NM_022567.2(NYX):c.340_354delGAGCTGCGCCTGGCG (p.Glu114_Ala118del) http://identifiers.org/clinvar/99831 ^@ NM_022567.2(NYX):c.427G>C (p.Ala143Pro) http://identifiers.org/clinvar/99832 ^@ NM_022567.2(NYX):c.452C>T (p.Pro151Leu) http://identifiers.org/clinvar/99833 ^@ NM_022567.2(NYX):c.524C>G (p.Pro175Arg) http://identifiers.org/clinvar/99834 ^@ NM_022567.2(NYX):c.551T>C (p.Leu184Pro) http://identifiers.org/clinvar/99835 ^@ NM_022567.2(NYX):c.638T>A (p.Leu213Gln) http://identifiers.org/clinvar/99836 ^@ NM_022567.2(NYX):c.647A>T (p.Asn216Ile) http://identifiers.org/clinvar/99837 ^@ NM_022567.2(NYX):c.695T>C (p.Leu232Pro) http://identifiers.org/clinvar/99838 ^@ NM_022567.2(NYX):c.727_738delGCCGAGCTCCCG (p.Glu244_Ala247del) http://identifiers.org/clinvar/99839 ^@ NM_022567.2(NYX):c.792C>G (p.Asn264Lys) http://identifiers.org/clinvar/99840 ^@ NM_022567.2(NYX):c.854T>C (p.Leu285Pro) http://identifiers.org/clinvar/99841 ^@ NM_022567.2(NYX):c.85_108del24 (p.Arg29_Ala36del) http://identifiers.org/clinvar/99842 ^@ NM_022567.2(NYX):c.893T>C (p.Phe298Ser) http://identifiers.org/clinvar/99843 ^@ NM_022567.2(NYX):c.92G>C (p.Cys31Ser) http://identifiers.org/clinvar/99844 ^@ NM_022567.2(NYX):c.935A>G (p.Asn312Ser) http://identifiers.org/clinvar/99845 ^@ NM_025114.3(CEP290):c.1550delT (p.Leu517Terfs) http://identifiers.org/clinvar/99846 ^@ NM_025114.3(CEP290):c.181-1G>T http://identifiers.org/clinvar/99847 ^@ NM_025114.3(CEP290):c.2118_2122dupTCAGC (p.Thr709Serfs) http://identifiers.org/clinvar/99848 ^@ NM_025114.3(CEP290):c.2218-4_2222del http://identifiers.org/clinvar/99849 ^@ NM_025114.3(CEP290):c.265dupA (p.Thr89Asnfs) http://identifiers.org/clinvar/99850 ^@ NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) http://identifiers.org/clinvar/99851 ^@ NM_025114.3(CEP290):c.3176dupT (p.Thr1060Asnfs) http://identifiers.org/clinvar/99852 ^@ NM_025114.3(CEP290):c.3814C>T (p.Arg1272Ter) http://identifiers.org/clinvar/99853 ^@ NM_025114.3(CEP290):c.4115_4116delTA (p.Ile1372Lysfs) http://identifiers.org/clinvar/99854 ^@ NM_025114.3(CEP290):c.4656delA (p.Glu1553Lysfs) http://identifiers.org/clinvar/99855 ^@ NM_025114.3(CEP290):c.4732G>T (p.Glu1578Ter) http://identifiers.org/clinvar/99856 ^@ NM_025114.3(CEP290):c.4771C>T (p.Gln1591Ter) http://identifiers.org/clinvar/99857 ^@ NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) http://identifiers.org/clinvar/99858 ^@ NM_025114.3(CEP290):c.5424T>C (p.Ser1808=) http://identifiers.org/clinvar/99859 ^@ NM_025114.3(CEP290):c.5515_5518delGAGA (p.Glu1839Lysfs) http://identifiers.org/clinvar/99860 ^@ NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) http://identifiers.org/clinvar/99861 ^@ NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) http://identifiers.org/clinvar/99862 ^@ NM_025114.3(CEP290):c.6331C>T (p.Gln2111Ter) http://identifiers.org/clinvar/99863 ^@ NM_025114.3(CEP290):c.679_680delGA (p.Glu227Serfs) http://identifiers.org/clinvar/99864 ^@ NM_025114.3(CEP290):c.7341dupA (p.Leu2448Thrfs) http://identifiers.org/clinvar/99865 ^@ NM_201253.2(CRB1):c.111delT (p.Ser38Leufs) http://identifiers.org/clinvar/99866 ^@ NM_201253.2(CRB1):c.1148G>A (p.Cys383Tyr) http://identifiers.org/clinvar/99867 ^@ NM_201253.2(CRB1):c.1208C>G (p.Ser403Ter) http://identifiers.org/clinvar/99868 ^@ NM_201253.2(CRB1):c.1298A>G (p.Tyr433Cys) http://identifiers.org/clinvar/99869 ^@ NM_201253.2(CRB1):c.1428C>T (p.Thr476=) http://identifiers.org/clinvar/99870 ^@ NM_201253.2(CRB1):c.1438T>C (p.Cys480Arg) http://identifiers.org/clinvar/99871 ^@ NM_201253.2(CRB1):c.1439G>A (p.Cys480Tyr) http://identifiers.org/clinvar/99872 ^@ NM_201253.2(CRB1):c.1647T>C (p.Asn549=) http://identifiers.org/clinvar/99873 ^@ NM_201253.2(CRB1):c.2035C>G (p.Gln679Glu) http://identifiers.org/clinvar/99874 ^@ NM_201253.2(CRB1):c.2042G>A (p.Cys681Tyr) http://identifiers.org/clinvar/99875 ^@ NM_201253.2(CRB1):c.2128G>C (p.Glu710Gln) http://identifiers.org/clinvar/99876 ^@ NM_201253.2(CRB1):c.2222T>C (p.Met741Thr) http://identifiers.org/clinvar/99877 ^@ NM_201253.2(CRB1):c.2244_2246delATC (p.Ser749del) http://identifiers.org/clinvar/99878 ^@ NM_201253.2(CRB1):c.2306G>A (p.Arg769His) http://identifiers.org/clinvar/99879 ^@ NM_201253.2(CRB1):c.2441T>A (p.Leu814Gln) http://identifiers.org/clinvar/99880 ^@ NM_201253.2(CRB1):c.2479G>T (p.Gly827Ter) http://identifiers.org/clinvar/99881 ^@ NM_201253.2(CRB1):c.2509G>C (p.Asp837His) http://identifiers.org/clinvar/99882 ^@ NM_201253.2(CRB1):c.2548_2551delGGCT (p.Gly850Valfs) http://identifiers.org/clinvar/99883 ^@ NM_201253.2(CRB1):c.2555T>C (p.Ile852Thr) http://identifiers.org/clinvar/99884 ^@ NM_201253.2(CRB1):c.256_257dupGT (p.Asn87Terfs) http://identifiers.org/clinvar/99885 ^@ NM_201253.2(CRB1):c.2613dupT (p.Ala872Cysfs) http://identifiers.org/clinvar/99886 ^@ NM_201253.2(CRB1):c.2671T>G (p.Cys891Gly) http://identifiers.org/clinvar/99887 ^@ NM_201253.2(CRB1):c.2681A>G (p.Asn894Ser) http://identifiers.org/clinvar/99888 ^@ NM_201253.2(CRB1):c.2688T>A (p.Cys896Ter) http://identifiers.org/clinvar/99889 ^@ NM_201253.2(CRB1):c.2823G>A (p.Pro941=) http://identifiers.org/clinvar/99890 ^@ NM_201253.2(CRB1):c.2842T>A (p.Cys948Ser) http://identifiers.org/clinvar/99891 ^@ NM_201253.2(CRB1):c.2853dupT (p.Ala952Cysfs) http://identifiers.org/clinvar/99892 ^@ NM_201253.2(CRB1):c.2882_2884delTAT (p.Leu962del) http://identifiers.org/clinvar/99893 ^@ NM_201253.2(CRB1):c.3074G>T (p.Ser1025Ile) http://identifiers.org/clinvar/99894 ^@ NM_201253.2(CRB1):c.3171C>T (p.Asn1057=) http://identifiers.org/clinvar/99895 ^@ NM_201253.2(CRB1):c.3212T>C (p.Leu1071Pro) http://identifiers.org/clinvar/99896 ^@ NM_201253.2(CRB1):c.3299T>C (p.Ile1100Thr) http://identifiers.org/clinvar/99897 ^@ NM_201253.2(CRB1):c.3320T>C (p.Leu1107Pro) http://identifiers.org/clinvar/99898 ^@ NM_201253.2(CRB1):c.3320T>G (p.Leu1107Arg) http://identifiers.org/clinvar/99899 ^@ NM_201253.2(CRB1):c.3331G>T (p.Glu1111Ter) http://identifiers.org/clinvar/99900 ^@ NM_201253.2(CRB1):c.3345delT (p.Phe1116Serfs) http://identifiers.org/clinvar/99901 ^@ NM_201253.2(CRB1):c.3614G>A (p.Gly1205Glu) http://identifiers.org/clinvar/99902 ^@ NM_201253.2(CRB1):c.3879G>A (p.Trp1293Ter) http://identifiers.org/clinvar/99903 ^@ NM_201253.2(CRB1):c.3949A>C (p.Asn1317His) http://identifiers.org/clinvar/99904 ^@ NM_201253.2(CRB1):c.3961T>A (p.Cys1321Ser) http://identifiers.org/clinvar/99905 ^@ NM_201253.2(CRB1):c.3961_3970delTGCCTCTGTG (p.Cys1321Metfs) http://identifiers.org/clinvar/99906 ^@ NM_201253.2(CRB1):c.3992G>A (p.Arg1331His) http://identifiers.org/clinvar/99908 ^@ NM_201253.2(CRB1):c.428_432delGATTC (p.Arg143Metfs) http://identifiers.org/clinvar/99909 ^@ NM_201253.2(CRB1):c.430T>G (p.Phe144Val) http://identifiers.org/clinvar/99910 ^@ NM_201253.2(CRB1):c.478dupG (p.Ala161Glyfs) http://identifiers.org/clinvar/99911 ^@ NM_201253.2(CRB1):c.482C>T (p.Ala161Val) http://identifiers.org/clinvar/99913 ^@ NM_201253.2(CRB1):c.613_619delATAGGAA (p.Ile205Aspfs) http://identifiers.org/clinvar/99914 ^@ NM_201253.2(CRB1):c.614T>C (p.Ile205Thr) http://identifiers.org/clinvar/99915 ^@ NM_201253.2(CRB1):c.616_621delGGAAGA (p.Gly206_Arg207del) http://identifiers.org/clinvar/99916 ^@ NM_201253.2(CRB1):c.750T>G (p.Cys250Trp) http://identifiers.org/clinvar/99917 ^@ NM_201253.2(CRB1):c.866C>T (p.Thr289Met) http://identifiers.org/clinvar/99919 ^@ NM_133433.3(NIPBL):c.1212C>T (p.Pro404=) http://identifiers.org/clinvar/99920 ^@ NM_133433.3(NIPBL):c.133C>T (p.Arg45Ter) http://identifiers.org/clinvar/99921 ^@ NM_015384.4(NIPBL):c.1445_1448delGAGA (p.Arg482Asnfs) http://identifiers.org/clinvar/99922 ^@ NM_133433.3(NIPBL):c.1526C>G (p.Ser509Cys) http://identifiers.org/clinvar/99923 ^@ NM_015384.4(NIPBL):c.192delG (p.Gln64Hisfs) http://identifiers.org/clinvar/99924 ^@ NM_133433.3(NIPBL):c.1965G>T (p.Glu655Asp) http://identifiers.org/clinvar/99925 ^@ NM_133433.3(NIPBL):c.2592T>A (p.Asp864Glu) http://identifiers.org/clinvar/99926 ^@ NM_133433.3(NIPBL):c.3445C>T (p.Arg1149Ter) http://identifiers.org/clinvar/99927 ^@ NM_015384.4(NIPBL):c.3897T>C (p.Leu1299=) http://identifiers.org/clinvar/99928 ^@ NM_015384.4(NIPBL):c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) http://identifiers.org/clinvar/99929 ^@ NM_133433.3(NIPBL):c.4422G>T (p.Arg1474Ser) http://identifiers.org/clinvar/99930 ^@ NM_133433.3(NIPBL):c.4511T>A (p.Leu1504Ter) http://identifiers.org/clinvar/99931 ^@ NM_015384.4(NIPBL):c.4806_4807delGA (p.Glu1602Aspfs) http://identifiers.org/clinvar/99932 ^@ NM_133433.3(NIPBL):c.5366G>A (p.Arg1789Gln) http://identifiers.org/clinvar/99933 ^@ NM_133433.3(NIPBL):c.5456G>A (p.Arg1819Gln) http://identifiers.org/clinvar/99934 ^@ NM_133433.3(NIPBL):c.5566A>G (p.Arg1856Gly) http://identifiers.org/clinvar/99935 ^@ NM_133433.3(NIPBL):c.585C>G (p.Tyr195Ter) http://identifiers.org/clinvar/99936 ^@ NM_133433.3(NIPBL):c.6631G>T (p.Glu2211Ter) http://identifiers.org/clinvar/99937 ^@ NM_015384.4(NIPBL):c.6641_6647delATCTATA (p.Asn2214Ilefs) http://identifiers.org/clinvar/99938 ^@ NM_133433.3(NIPBL):c.6892C>G (p.Arg2298Gly) http://identifiers.org/clinvar/99939 ^@ NM_133433.3(NIPBL):c.7301A>G (p.Asn2434Ser) http://identifiers.org/clinvar/99940 ^@ NM_133433.3(NIPBL):c.7327C>T (p.Gln2443Ter) http://identifiers.org/clinvar/99941 ^@ NM_133433.3(NIPBL):c.7727A>G (p.Tyr2576Cys) http://identifiers.org/clinvar/99942 ^@ NM_133433.3(NIPBL):c.7789delC (p.Leu2597Cysfs) http://identifiers.org/clinvar/99943 ^@ NM_015384.4(NIPBL):c.7806dupT (p.Asn2603Terfs) http://identifiers.org/clinvar/99944 ^@ NM_001142459.1(ASB10):c.224C>A (p.Ala75Glu) http://identifiers.org/clinvar/99945 ^@ NM_001142459.1(ASB10):c.271G>T (p.Asp91Tyr) http://identifiers.org/clinvar/99946 ^@ NM_080871.3(ASB10):c.1001T>C (p.Val334Ala) http://identifiers.org/clinvar/99947 ^@ NM_080871.3(ASB10):c.1033C>T (p.Arg345Cys) http://identifiers.org/clinvar/99948 ^@ NM_080871.3(ASB10):c.1051C>T (p.Leu351Phe) http://identifiers.org/clinvar/99949 ^@ NM_080871.3(ASB10):c.115C>T (p.Arg39Trp) http://identifiers.org/clinvar/99950 ^@ NM_080871.3(ASB10):c.116G>A (p.Arg39Gln) http://identifiers.org/clinvar/99951 ^@ NM_080871.3(ASB10):c.1227G>A (p.Ser409=) http://identifiers.org/clinvar/99952 ^@ NM_080871.3(ASB10):c.1273A>G (p.Ser425Gly) http://identifiers.org/clinvar/99953 ^@ NM_080871.3(ASB10):c.176T>C (p.Leu59Pro) http://identifiers.org/clinvar/99954 ^@ NM_080871.3(ASB10):c.204G>T (p.Pro68=) http://identifiers.org/clinvar/99955 ^@ NM_080871.3(ASB10):c.425C>T (p.Ala142Val) http://identifiers.org/clinvar/99956 ^@ NM_080871.3(ASB10):c.442T>A (p.Cys148Ser) http://identifiers.org/clinvar/99957 ^@ NM_080871.3(ASB10):c.471C>T (p.Ala157=) http://identifiers.org/clinvar/99958 ^@ NM_080871.3(ASB10):c.479A>C (p.Asn160Thr) http://identifiers.org/clinvar/99959 ^@ NM_080871.3(ASB10):c.520C>T (p.Arg174Trp) http://identifiers.org/clinvar/99960 ^@ NM_080871.3(ASB10):c.55C>T (p.Pro19Ser) http://identifiers.org/clinvar/99961 ^@ NM_080871.3(ASB10):c.56C>G (p.Pro19Arg) http://identifiers.org/clinvar/99962 ^@ NM_080871.3(ASB10):c.60C>T (p.Ser20=) http://identifiers.org/clinvar/99963 ^@ NM_080871.3(ASB10):c.686G>A (p.Arg229His) http://identifiers.org/clinvar/99964 ^@ NM_080871.3(ASB10):c.692C>A (p.Ala231Asp) http://identifiers.org/clinvar/99965 ^@ NM_080871.3(ASB10):c.863G>A (p.Arg288His) http://identifiers.org/clinvar/99966 ^@ NM_080871.3(ASB10):c.865C>T (p.Arg289Cys) http://identifiers.org/clinvar/99967 ^@ NM_080871.3(ASB10):c.941C>T (p.Thr314Met) http://identifiers.org/clinvar/99968 ^@ NM_080871.3(ASB10):c.94C>A (p.Arg32Ser) http://identifiers.org/clinvar/99969 ^@ NM_080871.3(ASB10):c.951C>G (p.His317Gln) http://identifiers.org/clinvar/99970 ^@ NM_001142459.1(ASB10):c.105T>G (p.Ser35=) http://identifiers.org/clinvar/99971 ^@ NM_001142459.1(ASB10):c.143C>G (p.Thr48Ser) http://identifiers.org/clinvar/99972 ^@ NM_001142459.1(ASB10):c.199G>A (p.Val67Met) http://identifiers.org/clinvar/99973 ^@ NM_001142459.1(ASB10):c.204C>G (p.Gly68=) http://identifiers.org/clinvar/99974 ^@ NM_001142459.1(ASB10):c.225G>A (p.Ala75=) http://identifiers.org/clinvar/99975 ^@ NM_001142459.1(ASB10):c.263A>T (p.Asp88Val) http://identifiers.org/clinvar/99976 ^@ NM_001142459.1(ASB10):c.281G>A (p.Arg94Gln) http://identifiers.org/clinvar/99977 ^@ NM_001142459.1(ASB10):c.291T>A (p.Asp97Glu) http://identifiers.org/clinvar/99978 ^@ NM_080871.3(ASB10):c.1021C>T (p.His341Tyr) http://identifiers.org/clinvar/99979 ^@ NM_080871.3(ASB10):c.1034G>A (p.Arg345His) http://identifiers.org/clinvar/99980 ^@ NM_080871.3(ASB10):c.1047G>T (p.Gly349=) http://identifiers.org/clinvar/99981 ^@ NM_080871.3(ASB10):c.204G>A (p.Pro68=) http://identifiers.org/clinvar/99982 ^@ NM_080871.3(ASB10):c.470C>T (p.Ala157Val) http://identifiers.org/clinvar/99983 ^@ NM_080871.3(ASB10):c.502C>T (p.Arg168Cys) http://identifiers.org/clinvar/99984 ^@ NM_080871.3(ASB10):c.545C>T (p.Ala182Val) http://identifiers.org/clinvar/99985 ^@ NM_080871.3(ASB10):c.583C>A (p.Arg195=) http://identifiers.org/clinvar/99986 ^@ NM_080871.3(ASB10):c.669G>A (p.Gly223=) http://identifiers.org/clinvar/99987 ^@ NM_080871.3(ASB10):c.770G>A (p.Arg257His) http://identifiers.org/clinvar/99988 ^@ NM_080871.3(ASB10):c.839A>T (p.Gln280Leu) http://identifiers.org/clinvar/99989 ^@ NM_080871.3(ASB10):c.913G>A (p.Ala305Thr) http://identifiers.org/clinvar/99990 ^@ NM_080871.3(ASB10):c.979C>T (p.Leu327=) http://identifiers.org/clinvar/99991 ^@ NM_001142459.1(ASB10):c.194G>A (p.Gly65Glu) http://identifiers.org/clinvar/100061 ^@ NM_000110.3(DPYD):c.*961A>G http://identifiers.org/clinvar/100062 ^@ NM_000110.3(DPYD):c.*911A>G http://identifiers.org/clinvar/100063 ^@ NM_000110.3(DPYD):c.*900T>C http://identifiers.org/clinvar/100064 ^@ NM_000110.3(DPYD):c.*780C>T http://identifiers.org/clinvar/100065 ^@ NM_000110.3(DPYD):c.*768G>A http://identifiers.org/clinvar/100066 ^@ NM_000110.3(DPYD):c.*736A>T http://identifiers.org/clinvar/100067 ^@ NM_000110.3(DPYD):c.*573G>A http://identifiers.org/clinvar/100068 ^@ NM_000110.3(DPYD):c.*173T>C http://identifiers.org/clinvar/100069 ^@ NM_000110.3(DPYD):c.3067C>A (p.Pro1023Thr) http://identifiers.org/clinvar/100070 ^@ NM_000110.3(DPYD):c.2987G>A (p.Cys996Tyr) http://identifiers.org/clinvar/100071 ^@ NM_000110.3(DPYD):c.2766+19A>G http://identifiers.org/clinvar/100072 ^@ NM_000110.3(DPYD):c.2598A>G (p.Pro866=) http://identifiers.org/clinvar/100073 ^@ NM_000110.3(DPYD):c.2532A>G (p.Glu844=) http://identifiers.org/clinvar/100074 ^@ NM_000110.3(DPYD):c.2329G>T (p.Ala777Ser) http://identifiers.org/clinvar/100075 ^@ NM_000110.3(DPYD):c.2301G>T (p.Gly767=) http://identifiers.org/clinvar/100076 ^@ NM_000110.3(DPYD):c.2300-39G>A http://identifiers.org/clinvar/100077 ^@ NM_000110.3(DPYD):c.2300-40G>T http://identifiers.org/clinvar/100078 ^@ NM_000110.3(DPYD):c.2300-109T>C http://identifiers.org/clinvar/100079 ^@ NM_000110.3(DPYD):c.2299+100C>T http://identifiers.org/clinvar/100080 ^@ NM_000110.3(DPYD):c.2194G>A (p.Val732Ile) http://identifiers.org/clinvar/100081 ^@ NM_000110.3(DPYD):c.2180-44T>C http://identifiers.org/clinvar/100082 ^@ NM_000110.3(DPYD):c.2161G>A (p.Ala721Thr) http://identifiers.org/clinvar/100083 ^@ NM_000110.3(DPYD):c.2058+42A>G http://identifiers.org/clinvar/100084 ^@ NM_000110.3(DPYD):c.2049C>G (p.Ala683=) http://identifiers.org/clinvar/100086 ^@ NM_000110.3(DPYD):c.1974+75A>G http://identifiers.org/clinvar/100087 ^@ NM_000110.3(DPYD):c.1905C>T (p.Asn635=) http://identifiers.org/clinvar/100088 ^@ NM_000110.3(DPYD):c.1896T>C (p.Phe632=) http://identifiers.org/clinvar/100089 ^@ NM_000110.3(DPYD):c.1741-65C>T http://identifiers.org/clinvar/100090 ^@ NM_000110.3(DPYD):c.1740+40A>G http://identifiers.org/clinvar/100091 ^@ NM_000110.3(DPYD):c.1740+39C>T http://identifiers.org/clinvar/100092 ^@ NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) http://identifiers.org/clinvar/100093 ^@ NM_000110.3(DPYD):c.1615G>A (p.Gly539Arg) http://identifiers.org/clinvar/100094 ^@ NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) http://identifiers.org/clinvar/100095 ^@ NM_000110.3(DPYD):c.1555C>T (p.Pro519Ser) http://identifiers.org/clinvar/100096 ^@ NM_000110.3(DPYD):c.1524+16C>A http://identifiers.org/clinvar/100097 ^@ NM_000110.3(DPYD):c.1371C>T (p.Asn457=) http://identifiers.org/clinvar/100098 ^@ NM_000110.3(DPYD):c.1358C>G (p.Pro453Arg) http://identifiers.org/clinvar/100099 ^@ NM_000110.3(DPYD):c.1340-106T>A http://identifiers.org/clinvar/100100 ^@ NM_000110.3(DPYD):c.1236G>A (p.Glu412=) http://identifiers.org/clinvar/100101 ^@ NM_000110.3(DPYD):c.1218G>A (p.Met406Ile) http://identifiers.org/clinvar/100102 ^@ NM_000110.3(DPYD):c.1129-11T>G http://identifiers.org/clinvar/100103 ^@ NM_000110.3(DPYD):c.1129-15T>C http://identifiers.org/clinvar/100104 ^@ NM_000110.3(DPYD):c.959-51T>C http://identifiers.org/clinvar/100105 ^@ NM_000110.3(DPYD):c.958+134T>G http://identifiers.org/clinvar/100106 ^@ NM_000110.3(DPYD):c.958+36A>G http://identifiers.org/clinvar/100107 ^@ NM_000110.3(DPYD):c.887G>A (p.Gly296Asp) http://identifiers.org/clinvar/100108 ^@ NM_000110.3(DPYD):c.869A>G (p.Lys290Arg) http://identifiers.org/clinvar/100109 ^@ NM_000110.3(DPYD):c.851-31C>T http://identifiers.org/clinvar/100110 ^@ NM_000110.3(DPYD):c.850+90T>C http://identifiers.org/clinvar/100111 ^@ NM_000110.3(DPYD):c.850+41T>C http://identifiers.org/clinvar/100112 ^@ NM_000110.3(DPYD):c.763-118A>G http://identifiers.org/clinvar/100113 ^@ NM_000110.3(DPYD):c.557A>G (p.Tyr186Cys) http://identifiers.org/clinvar/100114 ^@ NM_000110.3(DPYD):c.542A>C (p.Lys181Thr) http://identifiers.org/clinvar/100115 ^@ NM_000110.3(DPYD):c.525G>A (p.Ser175=) http://identifiers.org/clinvar/100116 ^@ NM_000110.3(DPYD):c.496A>G (p.Met166Val) http://identifiers.org/clinvar/100117 ^@ NM_000110.3(DPYD):c.483+18G>A http://identifiers.org/clinvar/100118 ^@ NM_000110.3(DPYD):c.269G>T (p.Ser90Ile) http://identifiers.org/clinvar/100119 ^@ NM_000110.3(DPYD):c.265A>T (p.Lys89Ter) http://identifiers.org/clinvar/100120 ^@ NM_000110.3(DPYD):c.234-81G>A http://identifiers.org/clinvar/100121 ^@ NM_000110.3(DPYD):c.233+36T>C http://identifiers.org/clinvar/100122 ^@ NM_000110.3(DPYD):c.151-69G>A http://identifiers.org/clinvar/100123 ^@ NM_000110.3(DPYD):c.85T= (p.Cys29=) http://identifiers.org/clinvar/100124 ^@ NM_000373.3(UMPS):c.-110A>G http://identifiers.org/clinvar/100125 ^@ NM_000373.3(UMPS):c.-67T>C http://identifiers.org/clinvar/100126 ^@ NM_000373.3(UMPS):c.-28A>G http://identifiers.org/clinvar/100127 ^@ NM_000373.3(UMPS):c.638G>C (p.Gly213Ala) http://identifiers.org/clinvar/100128 ^@ NM_000373.3(UMPS):c.983-55C>G http://identifiers.org/clinvar/100129 ^@ NM_000373.3(UMPS):c.1050T>A (p.Val350=) http://identifiers.org/clinvar/100130 ^@ NM_000373.3(UMPS):c.1274-52G>C http://identifiers.org/clinvar/100131 ^@ NM_000373.3(UMPS):c.1408G>T (p.Ala470Ser) http://identifiers.org/clinvar/100132 ^@ NM_001385.2(DPYS):c.1506delC (p.Arg503Glufs) http://identifiers.org/clinvar/100133 ^@ NM_001385.2(DPYS):c.1412A>G (p.Tyr471Cys) http://identifiers.org/clinvar/100134 ^@ NM_001385.2(DPYS):c.1307T>C (p.Val436Ala) http://identifiers.org/clinvar/100135 ^@ NM_001385.2(DPYS):c.1093-47C>A http://identifiers.org/clinvar/100136 ^@ NM_001385.2(DPYS):c.1092+38C>T http://identifiers.org/clinvar/100137 ^@ NM_001385.2(DPYS):c.1092+9C>T http://identifiers.org/clinvar/100138 ^@ NM_001385.2(DPYS):c.1062T>C (p.Asp354=) http://identifiers.org/clinvar/100139 ^@ NM_001385.2(DPYS):c.1029C>G (p.Thr343=) http://identifiers.org/clinvar/100140 ^@ NM_001385.2(DPYS):c.1002G>A (p.Gln334=) http://identifiers.org/clinvar/100141 ^@ NM_001385.2(DPYS):c.765T>C (p.Ala255=) http://identifiers.org/clinvar/100142 ^@ NM_001385.2(DPYS):c.541C>T (p.Arg181Trp) http://identifiers.org/clinvar/100143 ^@ NM_001385.2(DPYS):c.424-62G>T http://identifiers.org/clinvar/100144 ^@ NM_001385.2(DPYS):c.265-58T>C http://identifiers.org/clinvar/100145 ^@ NM_001385.2(DPYS):c.264+34C>G http://identifiers.org/clinvar/100146 ^@ NM_001385.2(DPYS):c.264+30G>A http://identifiers.org/clinvar/100147 ^@ NM_001385.2(DPYS):c.264+5C>T http://identifiers.org/clinvar/100148 ^@ NM_001385.2(DPYS):c.216C>T (p.Phe72=) http://identifiers.org/clinvar/100149 ^@ NM_001385.2(DPYS):c.19C>G (p.Leu7Val) http://identifiers.org/clinvar/100150 ^@ NM_001385.2(DPYS):c.15G>A (p.Ser5=) http://identifiers.org/clinvar/100151 ^@ NM_001385.2(DPYS):c.-1T>C http://identifiers.org/clinvar/100152 ^@ NM_001385.2(DPYS):c.-104T>C http://identifiers.org/clinvar/100153 ^@ NM_001385.2(DPYS):c.-154C>G http://identifiers.org/clinvar/100154 ^@ NM_016327.2(UPB1):c.-80C>G http://identifiers.org/clinvar/100155 ^@ NM_016327.2(UPB1):c.-17A>T http://identifiers.org/clinvar/100156 ^@ NM_016327.2(UPB1):c.105-61A>G http://identifiers.org/clinvar/100157 ^@ NM_016327.2(UPB1):c.143C>G (p.Ser48Cys) http://identifiers.org/clinvar/100158 ^@ NM_016327.2(UPB1):c.365-67G>A http://identifiers.org/clinvar/100159 ^@ NM_016327.2(UPB1):c.702C>T (p.Tyr234=) http://identifiers.org/clinvar/100160 ^@ NM_016327.2(UPB1):c.846C>T (p.Phe282=) http://identifiers.org/clinvar/100161 ^@ NM_016327.2(UPB1):c.873+9C>T http://identifiers.org/clinvar/100162 ^@ NM_016327.2(UPB1):c.874-64A>G http://identifiers.org/clinvar/100163 ^@ NM_016327.2(UPB1):c.957G>A (p.Val319=) http://identifiers.org/clinvar/100164 ^@ NM_016327.2(UPB1):c.976C>A (p.Arg326=) http://identifiers.org/clinvar/100166 ^@ NM_000552.4(VWF):c.-250-1563A>G http://identifiers.org/clinvar/100167 ^@ NM_000552.4(VWF):c.-250-1586C>T http://identifiers.org/clinvar/100168 ^@ NM_000552.4(VWF):c.-250-2018T>G http://identifiers.org/clinvar/100169 ^@ NM_000552.4(VWF):c.-250-2305A>G http://identifiers.org/clinvar/100170 ^@ NM_000552.4(VWF):c.100C>G (p.Arg34Gly) http://identifiers.org/clinvar/100171 ^@ NM_000552.4(VWF):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/100172 ^@ NM_000552.4(VWF):c.1093C>T (p.Arg365Ter) http://identifiers.org/clinvar/100173 ^@ NM_000552.4(VWF):c.1109+2T>C http://identifiers.org/clinvar/100174 ^@ NM_000552.4(VWF):c.1110-1G>A http://identifiers.org/clinvar/100175 ^@ NM_000552.4(VWF):c.1117C>T (p.Arg373Ter) http://identifiers.org/clinvar/100176 ^@ NM_000552.4(VWF):c.1131G>T (p.Trp377Cys) http://identifiers.org/clinvar/100177 ^@ NM_000552.4(VWF):c.1212_1213insAATCCC (p.Phe404_Thr405insAsnPro) http://identifiers.org/clinvar/100178 ^@ NM_000552.4(VWF):c.1280T>A (p.Ile427Asn) http://identifiers.org/clinvar/100179 ^@ NM_000552.4(VWF):c.1309_1326del18 (p.Asp437_Arg442del) http://identifiers.org/clinvar/100180 ^@ NM_000552.4(VWF):c.139G>C (p.Asp47His) http://identifiers.org/clinvar/100181 ^@ NM_000552.4(VWF):c.147C>A (p.Ser49Arg) http://identifiers.org/clinvar/100182 ^@ NM_000552.4(VWF):c.1533+15G>A http://identifiers.org/clinvar/100183 ^@ NM_000552.4(VWF):c.1534-3C>A http://identifiers.org/clinvar/100184 ^@ NM_000552.4(VWF):c.1573G>A (p.Gly525Arg) http://identifiers.org/clinvar/100185 ^@ NM_000552.4(VWF):c.1657dupT (p.Trp553Leufs) http://identifiers.org/clinvar/100186 ^@ NM_000552.4(VWF):c.1709G>C (p.Cys570Ser) http://identifiers.org/clinvar/100187 ^@ NM_000552.4(VWF):c.171C>A (p.Cys57Ter) http://identifiers.org/clinvar/100188 ^@ NM_000552.4(VWF):c.1728G>T (p.Met576Ile) http://identifiers.org/clinvar/100189 ^@ NM_000552.4(VWF):c.1730-2A>G http://identifiers.org/clinvar/100190 ^@ NM_000552.4(VWF):c.1781C>G (p.Ala594Gly) http://identifiers.org/clinvar/100191 ^@ NM_000552.4(VWF):c.1830C>A (p.Tyr610Ter) http://identifiers.org/clinvar/100192 ^@ NM_000552.4(VWF):c.1858G>T (p.Glu620Ter) http://identifiers.org/clinvar/100193 ^@ NM_000552.4(VWF):c.1869C>G (p.Cys623Trp) http://identifiers.org/clinvar/100194 ^@ NM_000552.4(VWF):c.1873_1874insGCG (p.Gly624_Ala625insGly) http://identifiers.org/clinvar/100195 ^@ NM_000552.4(VWF):c.191delG (p.Gly64Alafs) http://identifiers.org/clinvar/100196 ^@ NM_000552.4(VWF):c.1922C>T (p.Ala641Val) http://identifiers.org/clinvar/100197 ^@ NM_000552.4(VWF):c.1926G>A (p.Trp642Ter) http://identifiers.org/clinvar/100198 ^@ NM_000552.4(VWF):c.1930G>T (p.Glu644Ter) http://identifiers.org/clinvar/100199 ^@ NM_000552.4(VWF):c.1946-4C>T http://identifiers.org/clinvar/100200 ^@ NM_000552.4(VWF):c.2016_2019delCTCT (p.Ser673Thrfs) http://identifiers.org/clinvar/100201 ^@ NM_000552.4(VWF):c.2072delC (p.Pro691Glnfs) http://identifiers.org/clinvar/100202 ^@ NM_000552.4(VWF):c.2116C>T (p.Gln706Ter) http://identifiers.org/clinvar/100203 ^@ NM_000552.4(VWF):c.2124_2125delCT (p.Cys709Leufs) http://identifiers.org/clinvar/100204 ^@ NM_000552.4(VWF):c.212C>A (p.Ser71Ter) http://identifiers.org/clinvar/100205 ^@ NM_000552.4(VWF):c.2157delA (p.Asp720Thrfs) http://identifiers.org/clinvar/100206 ^@ NM_000552.4(VWF):c.2220G>A (p.Met740Ile) http://identifiers.org/clinvar/100207 ^@ NM_000552.4(VWF):c.2269_2270delCT (p.Leu757Valfs) http://identifiers.org/clinvar/100208 ^@ NM_000552.4(VWF):c.2278C>T (p.Arg760Cys) http://identifiers.org/clinvar/100209 ^@ NM_000552.4(VWF):c.2284A>G (p.Lys762Glu) http://identifiers.org/clinvar/100210 ^@ NM_000552.4(VWF):c.2287A>G (p.Arg763Gly) http://identifiers.org/clinvar/100211 ^@ NM_000552.4(VWF):c.2313G>T (p.Met771Ile) http://identifiers.org/clinvar/100212 ^@ NM_000552.4(VWF):c.2344C>T (p.Arg782Trp) http://identifiers.org/clinvar/100213 ^@ NM_000552.4(VWF):c.2345G>A (p.Arg782Gln) http://identifiers.org/clinvar/100214 ^@ NM_000552.4(VWF):c.2354G>A (p.Gly785Glu) http://identifiers.org/clinvar/100215 ^@ NM_000552.4(VWF):c.2359G>A (p.Glu787Lys) http://identifiers.org/clinvar/100216 ^@ NM_000552.4(VWF):c.2362T>C (p.Cys788Arg) http://identifiers.org/clinvar/100217 ^@ NM_000552.4(VWF):c.2363G>A (p.Cys788Tyr) http://identifiers.org/clinvar/100218 ^@ NM_000552.4(VWF):c.2365A>C (p.Thr789Pro) http://identifiers.org/clinvar/100219 ^@ NM_000552.4(VWF):c.2398A>G (p.Met800Val) http://identifiers.org/clinvar/100220 ^@ NM_000552.4(VWF):c.2435C>T (p.Pro812Leu) http://identifiers.org/clinvar/100222 ^@ NM_000552.4(VWF):c.2443-1G>C http://identifiers.org/clinvar/100223 ^@ NM_000552.4(VWF):c.2447G>A (p.Arg816Gln) http://identifiers.org/clinvar/100224 ^@ NM_000552.4(VWF):c.2451T>A (p.His817Gln) http://identifiers.org/clinvar/100225 ^@ NM_000552.4(VWF):c.2515delG (p.Gly839Glufs) http://identifiers.org/clinvar/100226 ^@ NM_000552.4(VWF):c.253T>C (p.Ser85Pro) http://identifiers.org/clinvar/100227 ^@ NM_000552.4(VWF):c.2540dupA (p.Asn847Lysfs) http://identifiers.org/clinvar/100228 ^@ NM_000552.4(VWF):c.2560C>T (p.Arg854Trp) http://identifiers.org/clinvar/100229 ^@ NM_000552.4(VWF):c.2573G>T (p.Cys858Phe) http://identifiers.org/clinvar/100230 ^@ NM_000552.4(VWF):c.260A>C (p.Tyr87Ser) http://identifiers.org/clinvar/100231 ^@ NM_000552.4(VWF):c.2635G>A (p.Asp879Asn) http://identifiers.org/clinvar/100232 ^@ NM_000552.4(VWF):c.2641delC (p.Leu881Serfs) http://identifiers.org/clinvar/100233 ^@ NM_000552.4(VWF):c.2685+2T>C http://identifiers.org/clinvar/100234 ^@ NM_000552.4(VWF):c.2686-1G>C http://identifiers.org/clinvar/100235 ^@ NM_000552.4(VWF):c.2686-2A>G http://identifiers.org/clinvar/100236 ^@ NM_000552.4(VWF):c.2734_2735insT (p.Lys912Ilefs) http://identifiers.org/clinvar/100237 ^@ NM_000552.4(VWF):c.276dupT (p.Asp93Terfs) http://identifiers.org/clinvar/100238 ^@ NM_000552.4(VWF):c.276delT (p.Phe92Leufs) http://identifiers.org/clinvar/100239 ^@ NM_000552.4(VWF):c.2770C>T (p.Arg924Trp) http://identifiers.org/clinvar/100240 ^@ NM_000552.4(VWF):c.2771G>A (p.Arg924Gln) http://identifiers.org/clinvar/100241 ^@ NM_000552.4(VWF):c.2820+1G>A http://identifiers.org/clinvar/100242 ^@ NM_000552.4(VWF):c.2820+1G>C http://identifiers.org/clinvar/100243 ^@ NM_000552.4(VWF):c.2936G>A (p.Ser979Asn) http://identifiers.org/clinvar/100244 ^@ NM_000552.4(VWF):c.2986T>G (p.Cys996Gly) http://identifiers.org/clinvar/100245 ^@ NM_000552.4(VWF):c.3072delC (p.Trp1025Glyfs) http://identifiers.org/clinvar/100246 ^@ NM_000552.4(VWF):c.3108+5G>A http://identifiers.org/clinvar/100247 ^@ NM_000552.4(VWF):c.3159G>T (p.Gln1053His) http://identifiers.org/clinvar/100248 ^@ NM_000552.4(VWF):c.3179G>A (p.Cys1060Tyr) http://identifiers.org/clinvar/100249 ^@ NM_000552.4(VWF):c.3212G>T (p.Cys1071Phe) http://identifiers.org/clinvar/100250 ^@ NM_000552.4(VWF):c.3232G>A (p.Glu1078Lys) http://identifiers.org/clinvar/100251 ^@ NM_000552.4(VWF):c.3281T>C (p.Ile1094Thr) http://identifiers.org/clinvar/100252 ^@ NM_000552.4(VWF):c.3301T>C (p.Cys1101Arg) http://identifiers.org/clinvar/100253 ^@ NM_000552.4(VWF):c.3303C>G (p.Cys1101Trp) http://identifiers.org/clinvar/100254 ^@ NM_000552.4(VWF):c.3320A>G (p.Tyr1107Cys) http://identifiers.org/clinvar/100255 ^@ NM_000552.4(VWF):c.3332G>A (p.Cys1111Tyr) http://identifiers.org/clinvar/100256 ^@ NM_000552.4(VWF):c.3359G>C (p.Trp1120Ser) http://identifiers.org/clinvar/100257 ^@ NM_000552.4(VWF):c.3379+1G>A http://identifiers.org/clinvar/100258 ^@ NM_000552.4(VWF):c.3385_3386delAG (p.Ser1129Leufs) http://identifiers.org/clinvar/100259 ^@ NM_000552.4(VWF):c.3388T>C (p.Cys1130Arg) http://identifiers.org/clinvar/100260 ^@ NM_000552.4(VWF):c.3388T>G (p.Cys1130Gly) http://identifiers.org/clinvar/100261 ^@ NM_000552.4(VWF):c.3389G>T (p.Cys1130Phe) http://identifiers.org/clinvar/100262 ^@ NM_000552.4(VWF):c.3430T>G (p.Trp1144Gly) http://identifiers.org/clinvar/100263 ^@ NM_000552.4(VWF):c.3460C>T (p.Gln1154Ter) http://identifiers.org/clinvar/100264 ^@ NM_000552.4(VWF):c.3467C>T (p.Thr1156Met) http://identifiers.org/clinvar/100265 ^@ NM_000552.4(VWF):c.3470G>T (p.Cys1157Phe) http://identifiers.org/clinvar/100266 ^@ NM_000552.4(VWF):c.3511G>C (p.Glu1171Gln) http://identifiers.org/clinvar/100267 ^@ NM_000552.4(VWF):c.3538+1G>A http://identifiers.org/clinvar/100268 ^@ NM_000552.4(VWF):c.3538G>A (p.Gly1180Arg) http://identifiers.org/clinvar/100269 ^@ NM_000552.4(VWF):c.3568T>C (p.Cys1190Arg) http://identifiers.org/clinvar/100270 ^@ NM_000552.4(VWF):c.3586T>C (p.Cys1196Arg) http://identifiers.org/clinvar/100271 ^@ NM_000552.4(VWF):c.3614G>T (p.Arg1205Leu) http://identifiers.org/clinvar/100272 ^@ NM_000552.4(VWF):c.3673T>G (p.Cys1225Gly) http://identifiers.org/clinvar/100273 ^@ NM_000552.4(VWF):c.3679T>C (p.Cys1227Arg) http://identifiers.org/clinvar/100274 ^@ NM_000552.4(VWF):c.3686T>G (p.Val1229Gly) http://identifiers.org/clinvar/100275 ^@ NM_000552.4(VWF):c.3692A>C (p.Asn1231Thr) http://identifiers.org/clinvar/100276 ^@ NM_000552.4(VWF):c.3702T>G (p.Cys1234Trp) http://identifiers.org/clinvar/100277 ^@ NM_000552.4(VWF):c.374_387delGGTACTACAAGCTG (p.Gly125Valfs) http://identifiers.org/clinvar/100278 ^@ NM_000552.4(VWF):c.375_376delGTinsC (p.Tyr126Thrfs) http://identifiers.org/clinvar/100279 ^@ NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) http://identifiers.org/clinvar/100280 ^@ NM_000552.4(VWF):c.3802C>A (p.His1268Asn) http://identifiers.org/clinvar/100281 ^@ NM_000552.4(VWF):c.3802C>G (p.His1268Asp) http://identifiers.org/clinvar/100282 ^@ NM_000552.4(VWF):c.3814T>G (p.Cys1272Gly) http://identifiers.org/clinvar/100283 ^@ NM_000552.4(VWF):c.3814_3815insATTTCTACT (p.Tyr1271_Cys1272insTyrPheTyr) http://identifiers.org/clinvar/100284 ^@ NM_000552.4(VWF):c.3815G>C (p.Cys1272Ser) http://identifiers.org/clinvar/100285 ^@ NM_000552.4(VWF):c.3815G>T (p.Cys1272Phe) http://identifiers.org/clinvar/100286 ^@ NM_000552.4(VWF):c.3827T>C (p.Leu1276Pro) http://identifiers.org/clinvar/100287 ^@ NM_000552.4(VWF):c.3831_3833delCCT (p.Asp1277_Leu1278delinsGlu) http://identifiers.org/clinvar/100288 ^@ NM_000552.4(VWF):c.3835G>A (p.Val1279Ile) http://identifiers.org/clinvar/100289 ^@ NM_000552.4(VWF):c.3835G>T (p.Val1279Phe) http://identifiers.org/clinvar/100290 ^@ NM_000552.4(VWF):c.3839_3845dupTCCTGCT (p.Asp1283Profs) http://identifiers.org/clinvar/100291 ^@ NM_000552.4(VWF):c.3845T>G (p.Leu1282Arg) http://identifiers.org/clinvar/100292 ^@ NM_000552.4(VWF):c.3853T>C (p.Ser1285Pro) http://identifiers.org/clinvar/100293 ^@ NM_000552.4(VWF):c.385C>A (p.Leu129Met) http://identifiers.org/clinvar/100294 ^@ NM_000552.4(VWF):c.3863T>G (p.Leu1288Arg) http://identifiers.org/clinvar/100295 ^@ NM_000552.4(VWF):c.3877T>C (p.Phe1293Leu) http://identifiers.org/clinvar/100296 ^@ NM_000552.4(VWF):c.3887T>C (p.Leu1296Pro) http://identifiers.org/clinvar/100297 ^@ NM_000552.4(VWF):c.3905A>G (p.Asp1302Gly) http://identifiers.org/clinvar/100298 ^@ NM_000552.4(VWF):c.3910A>G (p.Met1304Val) http://identifiers.org/clinvar/100299 ^@ NM_000552.4(VWF):c.3912_3913insATG (p.Met1304_Glu1305insMet) http://identifiers.org/clinvar/100300 ^@ NM_000552.4(VWF):c.3917G>A (p.Arg1306Gln) http://identifiers.org/clinvar/100301 ^@ NM_000552.4(VWF):c.3917G>T (p.Arg1306Leu) http://identifiers.org/clinvar/100302 ^@ NM_000552.4(VWF):c.3920T>C (p.Leu1307Pro) http://identifiers.org/clinvar/100303 ^@ NM_000552.4(VWF):c.3923G>A (p.Arg1308His) http://identifiers.org/clinvar/100304 ^@ NM_000552.4(VWF):c.3923G>C (p.Arg1308Pro) http://identifiers.org/clinvar/100305 ^@ NM_000552.4(VWF):c.3925A>G (p.Ile1309Val) http://identifiers.org/clinvar/100306 ^@ NM_000552.4(VWF):c.3929C>T (p.Ser1310Phe) http://identifiers.org/clinvar/100307 ^@ NM_000552.4(VWF):c.3931C>T (p.Gln1311Ter) http://identifiers.org/clinvar/100308 ^@ NM_000552.4(VWF):c.3940G>T (p.Val1314Phe) http://identifiers.org/clinvar/100309 ^@ NM_000552.4(VWF):c.3941T>A (p.Val1314Asp) http://identifiers.org/clinvar/100310 ^@ NM_000552.4(VWF):c.3943C>T (p.Arg1315Cys) http://identifiers.org/clinvar/100311 ^@ NM_000552.4(VWF):c.3944G>A (p.Arg1315His) http://identifiers.org/clinvar/100312 ^@ NM_000552.4(VWF):c.3944G>T (p.Arg1315Leu) http://identifiers.org/clinvar/100313 ^@ NM_000552.4(VWF):c.3971G>C (p.Gly1324Ala) http://identifiers.org/clinvar/100314 ^@ NM_000552.4(VWF):c.4010C>T (p.Pro1337Leu) http://identifiers.org/clinvar/100315 ^@ NM_000552.4(VWF):c.4013C>G (p.Ser1338Ter) http://identifiers.org/clinvar/100316 ^@ NM_000552.4(VWF):c.4021C>T (p.Arg1341Trp) http://identifiers.org/clinvar/100317 ^@ NM_000552.4(VWF):c.4022G>C (p.Arg1341Pro) http://identifiers.org/clinvar/100318 ^@ NM_000552.4(VWF):c.4022G>T (p.Arg1341Leu) http://identifiers.org/clinvar/100319 ^@ NM_000552.4(VWF):c.4027A>G (p.Ile1343Val) http://identifiers.org/clinvar/100320 ^@ NM_000552.4(VWF):c.4036C>T (p.Gln1346Ter) http://identifiers.org/clinvar/100321 ^@ NM_000552.4(VWF):c.4075G>A (p.Glu1359Lys) http://identifiers.org/clinvar/100322 ^@ NM_000552.4(VWF):c.4079T>C (p.Val1360Ala) http://identifiers.org/clinvar/100323 ^@ NM_000552.4(VWF):c.4082T>C (p.Leu1361Ser) http://identifiers.org/clinvar/100324 ^@ NM_000552.4(VWF):c.4085A>C (p.Lys1362Thr) http://identifiers.org/clinvar/100325 ^@ NM_000552.4(VWF):c.4092_4093delAC (p.Leu1365Valfs) http://identifiers.org/clinvar/100326 ^@ NM_000552.4(VWF):c.4105T>A (p.Phe1369Ile) http://identifiers.org/clinvar/100327 ^@ NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) http://identifiers.org/clinvar/100328 ^@ NM_000552.4(VWF):c.4120C>A (p.Arg1374Ser) http://identifiers.org/clinvar/100329 ^@ NM_000552.4(VWF):c.4120C>T (p.Arg1374Cys) http://identifiers.org/clinvar/100330 ^@ NM_000552.4(VWF):c.4121G>A (p.Arg1374His) http://identifiers.org/clinvar/100331 ^@ NM_000552.4(VWF):c.4121G>T (p.Arg1374Leu) http://identifiers.org/clinvar/100332 ^@ NM_000552.4(VWF):c.4133C>T (p.Ser1378Phe) http://identifiers.org/clinvar/100333 ^@ NM_000552.4(VWF):c.4135C>T (p.Arg1379Cys) http://identifiers.org/clinvar/100334 ^@ NM_000552.4(VWF):c.4148T>C (p.Leu1383Pro) http://identifiers.org/clinvar/100335 ^@ NM_000552.4(VWF):c.4148T>G (p.Leu1383Arg) http://identifiers.org/clinvar/100336 ^@ NM_000552.4(VWF):c.4173_4205del33 (p.Arg1392_Gln1402del) http://identifiers.org/clinvar/100337 ^@ NM_000552.4(VWF):c.4195C>T (p.Arg1399Cys) http://identifiers.org/clinvar/100338 ^@ NM_000552.4(VWF):c.421G>A (p.Asp141Asn) http://identifiers.org/clinvar/100339 ^@ NM_000552.4(VWF):c.421G>T (p.Asp141Tyr) http://identifiers.org/clinvar/100340 ^@ NM_000552.4(VWF):c.4222_4224delAAG (p.Lys1408del) http://identifiers.org/clinvar/100341 ^@ NM_000552.4(VWF):c.422A>G (p.Asp141Gly) http://identifiers.org/clinvar/100342 ^@ NM_000552.4(VWF):c.4238C>T (p.Pro1413Leu) http://identifiers.org/clinvar/100343 ^@ NM_000552.4(VWF):c.4244G>A (p.Gly1415Asp) http://identifiers.org/clinvar/100344 ^@ NM_000552.4(VWF):c.4247T>A (p.Ile1416Asn) http://identifiers.org/clinvar/100345 ^@ NM_000552.4(VWF):c.4263C>G (p.Asn1421Lys) http://identifiers.org/clinvar/100346 ^@ NM_000552.4(VWF):c.4273A>T (p.Ile1425Phe) http://identifiers.org/clinvar/100347 ^@ NM_000552.4(VWF):c.4309G>A (p.Ala1437Thr) http://identifiers.org/clinvar/100348 ^@ NM_000552.4(VWF):c.4339G>C (p.Glu1447Gln) http://identifiers.org/clinvar/100349 ^@ NM_000552.4(VWF):c.4368C>A (p.Tyr1456Ter) http://identifiers.org/clinvar/100350 ^@ NM_000552.4(VWF):c.4368C>G (p.Tyr1456Ter) http://identifiers.org/clinvar/100351 ^@ NM_000552.4(VWF):c.4373G>A (p.Cys1458Tyr) http://identifiers.org/clinvar/100352 ^@ NM_000552.4(VWF):c.4378C>G (p.Leu1460Val) http://identifiers.org/clinvar/100353 ^@ NM_000552.4(VWF):c.4382C>A (p.Ala1461Asp) http://identifiers.org/clinvar/100354 ^@ NM_000552.4(VWF):c.4382C>T (p.Ala1461Val) http://identifiers.org/clinvar/100355 ^@ NM_000552.4(VWF):c.4384C>G (p.Pro1462Ala) http://identifiers.org/clinvar/100356 ^@ NM_000552.4(VWF):c.4399C>T (p.Pro1467Ser) http://identifiers.org/clinvar/100357 ^@ NM_000552.4(VWF):c.4414dupG (p.Asp1472Glyfs) http://identifiers.org/clinvar/100358 ^@ NM_000552.4(VWF):c.4415_4416insG (p.Asp1472Glufs) http://identifiers.org/clinvar/100359 ^@ NM_000552.4(VWF):c.4423C>T (p.Gln1475Ter) http://identifiers.org/clinvar/100360 ^@ NM_000552.4(VWF):c.4453delG (p.Val1485Phefs) http://identifiers.org/clinvar/100361 ^@ NM_000552.4(VWF):c.4499C>A (p.Ala1500Glu) http://identifiers.org/clinvar/100362 ^@ NM_000552.4(VWF):c.449T>A (p.Leu150Gln) http://identifiers.org/clinvar/100363 ^@ NM_000552.4(VWF):c.449T>C (p.Leu150Pro) http://identifiers.org/clinvar/100364 ^@ NM_000552.4(VWF):c.4508T>A (p.Leu1503Gln) http://identifiers.org/clinvar/100365 ^@ NM_000552.4(VWF):c.4508T>C (p.Leu1503Pro) http://identifiers.org/clinvar/100366 ^@ NM_000552.4(VWF):c.4508T>G (p.Leu1503Arg) http://identifiers.org/clinvar/100367 ^@ NM_000552.4(VWF):c.4513G>C (p.Gly1505Arg) http://identifiers.org/clinvar/100368 ^@ NM_000552.4(VWF):c.4514G>A (p.Gly1505Glu) http://identifiers.org/clinvar/100369 ^@ NM_000552.4(VWF):c.4517C>T (p.Ser1506Leu) http://identifiers.org/clinvar/100370 ^@ NM_000552.4(VWF):c.4552A>G (p.Lys1518Glu) http://identifiers.org/clinvar/100371 ^@ NM_000552.4(VWF):c.4570delG (p.Val1524Terfs) http://identifiers.org/clinvar/100372 ^@ NM_000552.4(VWF):c.4604_4612delTCCACGTCA (p.Ile1535_Val1537del) http://identifiers.org/clinvar/100373 ^@ NM_000552.4(VWF):c.4616T>A (p.Val1539Glu) http://identifiers.org/clinvar/100374 ^@ NM_000552.4(VWF):c.4619T>C (p.Leu1540Pro) http://identifiers.org/clinvar/100375 ^@ NM_000552.4(VWF):c.4626C>G (p.Tyr1542Ter) http://identifiers.org/clinvar/100376 ^@ NM_000552.4(VWF):c.4628C>T (p.Ser1543Phe) http://identifiers.org/clinvar/100377 ^@ NM_000552.4(VWF):c.4635delG (p.Val1546Terfs) http://identifiers.org/clinvar/100378 ^@ NM_000552.4(VWF):c.4637_4645delTGACTGTGG (p.Val1546_Val1548del) http://identifiers.org/clinvar/100379 ^@ NM_000552.4(VWF):c.4645G>A (p.Glu1549Lys) http://identifiers.org/clinvar/100380 ^@ NM_000552.4(VWF):c.4667A>G (p.Gln1556Arg) http://identifiers.org/clinvar/100381 ^@ NM_000552.4(VWF):c.4685T>C (p.Leu1562Pro) http://identifiers.org/clinvar/100382 ^@ NM_000552.4(VWF):c.4696C>T (p.Arg1566Ter) http://identifiers.org/clinvar/100383 ^@ NM_000552.4(VWF):c.4703T>A (p.Ile1568Asn) http://identifiers.org/clinvar/100384 ^@ NM_000552.4(VWF):c.4717G>A (p.Gly1573Ser) http://identifiers.org/clinvar/100385 ^@ NM_000552.4(VWF):c.4735G>A (p.Gly1579Arg) http://identifiers.org/clinvar/100386 ^@ NM_000552.4(VWF):c.4738C>G (p.Leu1580Val) http://identifiers.org/clinvar/100387 ^@ NM_000552.4(VWF):c.4739T>C (p.Leu1580Pro) http://identifiers.org/clinvar/100388 ^@ NM_000552.4(VWF):c.4747C>T (p.Arg1583Trp) http://identifiers.org/clinvar/100389 ^@ NM_000552.4(VWF):c.4789C>G (p.Arg1597Gly) http://identifiers.org/clinvar/100390 ^@ NM_000552.4(VWF):c.478G>T (p.Gly160Trp) http://identifiers.org/clinvar/100391 ^@ NM_000552.4(VWF):c.4790G>A (p.Arg1597Gln) http://identifiers.org/clinvar/100392 ^@ NM_000552.4(VWF):c.4790G>T (p.Arg1597Leu) http://identifiers.org/clinvar/100393 ^@ NM_000552.4(VWF):c.4808T>C (p.Leu1603Pro) http://identifiers.org/clinvar/100394 ^@ NM_000552.4(VWF):c.4810G>T (p.Val1604Phe) http://identifiers.org/clinvar/100395 ^@ NM_000552.4(VWF):c.4825G>A (p.Gly1609Arg) http://identifiers.org/clinvar/100396 ^@ NM_000552.4(VWF):c.4841A>G (p.Asp1614Gly) http://identifiers.org/clinvar/100397 ^@ NM_000552.4(VWF):c.4880C>A (p.Pro1627His) http://identifiers.org/clinvar/100398 ^@ NM_000552.4(VWF):c.4885G>A (p.Gly1629Arg) http://identifiers.org/clinvar/100401 ^@ NM_000552.4(VWF):c.4886delG (p.Gly1629Glufs) http://identifiers.org/clinvar/100402 ^@ NM_000552.4(VWF):c.4889T>A (p.Val1630Glu) http://identifiers.org/clinvar/100403 ^@ NM_000552.4(VWF):c.4912G>A (p.Glu1638Lys) http://identifiers.org/clinvar/100404 ^@ NM_000552.4(VWF):c.4916T>C (p.Leu1639Pro) http://identifiers.org/clinvar/100405 ^@ NM_000552.4(VWF):c.4942C>T (p.Pro1648Ser) http://identifiers.org/clinvar/100406 ^@ NM_000552.4(VWF):c.4943C>G (p.Pro1648Arg) http://identifiers.org/clinvar/100407 ^@ NM_000552.4(VWF):c.4944delT (p.Ile1649Serfs) http://identifiers.org/clinvar/100408 ^@ NM_000552.4(VWF):c.4969C>A (p.Leu1657Ile) http://identifiers.org/clinvar/100409 ^@ NM_000552.4(VWF):c.4970T>A (p.Leu1657His) http://identifiers.org/clinvar/100410 ^@ NM_000552.4(VWF):c.4971dupC (p.Arg1659Profs) http://identifiers.org/clinvar/100411 ^@ NM_000552.4(VWF):c.497A>T (p.Asn166Ile) http://identifiers.org/clinvar/100412 ^@ NM_000552.4(VWF):c.4994T>A (p.Val1665Glu) http://identifiers.org/clinvar/100413 ^@ NM_000552.4(VWF):c.5004G>T (p.Arg1668Ser) http://identifiers.org/clinvar/100414 ^@ NM_000552.4(VWF):c.5014G>A (p.Gly1672Arg) http://identifiers.org/clinvar/100415 ^@ NM_000552.4(VWF):c.5023_5024delCTinsTA (p.Leu1675Ter) http://identifiers.org/clinvar/100416 ^@ NM_000552.4(VWF):c.5053+1G>A http://identifiers.org/clinvar/100417 ^@ NM_000552.4(VWF):c.5053+1G>T http://identifiers.org/clinvar/100418 ^@ NM_000552.4(VWF):c.5170+10C>T http://identifiers.org/clinvar/100419 ^@ NM_000552.4(VWF):c.5180_5181insTT (p.Thr1728Serfs) http://identifiers.org/clinvar/100420 ^@ NM_000552.4(VWF):c.5191T>A (p.Ser1731Thr) http://identifiers.org/clinvar/100421 ^@ NM_000552.4(VWF):c.5235G>T (p.Trp1745Cys) http://identifiers.org/clinvar/100422 ^@ NM_000552.4(VWF):c.5278G>A (p.Val1760Ile) http://identifiers.org/clinvar/100423 ^@ NM_000552.4(VWF):c.5321T>C (p.Leu1774Ser) http://identifiers.org/clinvar/100424 ^@ NM_000552.4(VWF):c.533-2A>G http://identifiers.org/clinvar/100425 ^@ NM_000552.4(VWF):c.5335C>T (p.Arg1779Ter) http://identifiers.org/clinvar/100426 ^@ NM_000552.4(VWF):c.5356C>G (p.His1786Asp) http://identifiers.org/clinvar/100427 ^@ NM_000552.4(VWF):c.5380A>G (p.Lys1794Glu) http://identifiers.org/clinvar/100428 ^@ NM_000552.4(VWF):c.5453A>G (p.Asn1818Ser) http://identifiers.org/clinvar/100429 ^@ NM_000552.4(VWF):c.5465T>G (p.Val1822Gly) http://identifiers.org/clinvar/100430 ^@ NM_000552.4(VWF):c.5471C>A (p.Pro1824His) http://identifiers.org/clinvar/100431 ^@ NM_000552.4(VWF):c.5545G>A (p.Val1849Met) http://identifiers.org/clinvar/100432 ^@ NM_000552.4(VWF):c.55G>A (p.Gly19Arg) http://identifiers.org/clinvar/100433 ^@ NM_000552.4(VWF):c.5890C>A (p.Gln1964Lys) http://identifiers.org/clinvar/100434 ^@ NM_000552.4(VWF):c.5941G>T (p.Glu1981Ter) http://identifiers.org/clinvar/100435 ^@ NM_000552.4(VWF):c.6182delT (p.Phe2061Serfs) http://identifiers.org/clinvar/100436 ^@ NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) http://identifiers.org/clinvar/100437 ^@ NM_000552.4(VWF):c.6311C>T (p.Thr2104Ile) http://identifiers.org/clinvar/100438 ^@ NM_000552.4(VWF):c.6385G>T (p.Glu2129Ter) http://identifiers.org/clinvar/100439 ^@ NM_000552.4(VWF):c.6433C>T (p.Pro2145Ser) http://identifiers.org/clinvar/100440 ^@ NM_000552.4(VWF):c.6520T>G (p.Cys2174Gly) http://identifiers.org/clinvar/100441 ^@ NM_000552.4(VWF):c.652C>T (p.Gln218Ter) http://identifiers.org/clinvar/100442 ^@ NM_000552.4(VWF):c.6536C>T (p.Ser2179Phe) http://identifiers.org/clinvar/100443 ^@ NM_000552.4(VWF):c.6554G>A (p.Arg2185Gln) http://identifiers.org/clinvar/100444 ^@ NM_000552.4(VWF):c.6599-20A>T http://identifiers.org/clinvar/100445 ^@ NM_000552.4(VWF):c.6620T>C (p.Leu2207Pro) http://identifiers.org/clinvar/100446 ^@ NM_000552.4(VWF):c.666G>A (p.Trp222Ter) http://identifiers.org/clinvar/100447 ^@ NM_000552.4(VWF):c.6697G>C (p.Glu2233Gln) http://identifiers.org/clinvar/100448 ^@ NM_000552.4(VWF):c.6769T>A (p.Cys2257Ser) http://identifiers.org/clinvar/100449 ^@ NM_000552.4(VWF):c.6798+1G>T http://identifiers.org/clinvar/100450 ^@ NM_000552.4(VWF):c.6859C>T (p.Arg2287Trp) http://identifiers.org/clinvar/100451 ^@ NM_000552.4(VWF):c.6911G>A (p.Cys2304Tyr) http://identifiers.org/clinvar/100452 ^@ NM_000552.4(VWF):c.6932G>A (p.Arg2311His) http://identifiers.org/clinvar/100453 ^@ NM_000552.4(VWF):c.6938G>A (p.Arg2313His) http://identifiers.org/clinvar/100454 ^@ NM_000552.4(VWF):c.6977-1G>C http://identifiers.org/clinvar/100455 ^@ NM_000552.4(VWF):c.7018T>C (p.Cys2340Arg) http://identifiers.org/clinvar/100456 ^@ NM_000552.4(VWF):c.7028G>T (p.Gly2343Val) http://identifiers.org/clinvar/100457 ^@ NM_000552.4(VWF):c.7082-2A>G http://identifiers.org/clinvar/100459 ^@ NM_000552.4(VWF):c.7130dupC (p.His2378Alafs) http://identifiers.org/clinvar/100460 ^@ NM_000552.4(VWF):c.7135C>T (p.Arg2379Cys) http://identifiers.org/clinvar/100461 ^@ NM_000552.4(VWF):c.7137dupT (p.Leu2380Phefs) http://identifiers.org/clinvar/100462 ^@ NM_000552.4(VWF):c.7176T>G (p.Tyr2392Ter) http://identifiers.org/clinvar/100463 ^@ NM_000552.4(VWF):c.7294_7295delGT (p.Val2432Profs) http://identifiers.org/clinvar/100464 ^@ NM_000552.4(VWF):c.7300C>T (p.Arg2434Ter) http://identifiers.org/clinvar/100465 ^@ NM_000552.4(VWF):c.7321G>T (p.Gly2441Cys) http://identifiers.org/clinvar/100466 ^@ NM_000552.4(VWF):c.7377_7393dup17 (p.Val2465Alafs) http://identifiers.org/clinvar/100467 ^@ NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) http://identifiers.org/clinvar/100468 ^@ NM_000552.4(VWF):c.7405T>C (p.Ser2469Pro) http://identifiers.org/clinvar/100469 ^@ NM_000552.4(VWF):c.7408C>T (p.Gln2470Ter) http://identifiers.org/clinvar/100470 ^@ NM_000552.4(VWF):c.7430G>A (p.Cys2477Tyr) http://identifiers.org/clinvar/100471 ^@ NM_000552.4(VWF):c.7430G>C (p.Cys2477Ser) http://identifiers.org/clinvar/100472 ^@ NM_000552.4(VWF):c.7437+1G>A http://identifiers.org/clinvar/100473 ^@ NM_000552.4(VWF):c.7437G>A (p.Ser2479=) http://identifiers.org/clinvar/100474 ^@ NM_000552.4(VWF):c.7449_7450insA (p.Val2484Serfs) http://identifiers.org/clinvar/100475 ^@ NM_000552.4(VWF):c.7489T>C (p.Ser2497Pro) http://identifiers.org/clinvar/100476 ^@ NM_000552.4(VWF):c.7552G>A (p.Gly2518Ser) http://identifiers.org/clinvar/100477 ^@ NM_000552.4(VWF):c.7559A>C (p.Gln2520Pro) http://identifiers.org/clinvar/100478 ^@ NM_000552.4(VWF):c.7599T>A (p.Cys2533Ter) http://identifiers.org/clinvar/100479 ^@ NM_000552.4(VWF):c.7630C>T (p.Gln2544Ter) http://identifiers.org/clinvar/100480 ^@ NM_000552.4(VWF):c.7636A>T (p.Asn2546Tyr) http://identifiers.org/clinvar/100481 ^@ NM_000552.4(VWF):c.7664_7665insAG (p.Cys2557Serfs) http://identifiers.org/clinvar/100482 ^@ NM_000552.4(VWF):c.7674dupC (p.Ser2559Leufs) http://identifiers.org/clinvar/100483 ^@ NM_000552.4(VWF):c.7683delT (p.Gln2562Serfs) http://identifiers.org/clinvar/100484 ^@ NM_000552.4(VWF):c.7729+7C>T http://identifiers.org/clinvar/100485 ^@ NM_000552.4(VWF):c.7730-1G>C http://identifiers.org/clinvar/100486 ^@ NM_000552.4(VWF):c.788_811del24 (p.Cys263_Glu270del) http://identifiers.org/clinvar/100487 ^@ NM_000552.4(VWF):c.7940C>T (p.Thr2647Met) http://identifiers.org/clinvar/100488 ^@ NM_000552.4(VWF):c.8012G>A (p.Cys2671Tyr) http://identifiers.org/clinvar/100489 ^@ NM_000552.4(VWF):c.8078G>A (p.Cys2693Tyr) http://identifiers.org/clinvar/100490 ^@ NM_000552.4(VWF):c.8155+3G>C http://identifiers.org/clinvar/100491 ^@ NM_000552.4(VWF):c.8155+3G>T http://identifiers.org/clinvar/100492 ^@ NM_000552.4(VWF):c.8164C>G (p.Pro2722Ala) http://identifiers.org/clinvar/100493 ^@ NM_000552.4(VWF):c.817C>T (p.Arg273Trp) http://identifiers.org/clinvar/100494 ^@ NM_000552.4(VWF):c.8187_8194delCAGGCTGC (p.Arg2730Valfs) http://identifiers.org/clinvar/100495 ^@ NM_000552.4(VWF):c.8216G>A (p.Cys2739Tyr) http://identifiers.org/clinvar/100496 ^@ NM_000552.4(VWF):c.823T>A (p.Cys275Ser) http://identifiers.org/clinvar/100497 ^@ NM_000552.4(VWF):c.823T>C (p.Cys275Arg) http://identifiers.org/clinvar/100498 ^@ NM_000552.4(VWF):c.8241_8249delCCACTACTG (p.His2748_Cys2750del) http://identifiers.org/clinvar/100499 ^@ NM_000552.4(VWF):c.8262T>G (p.Cys2754Trp) http://identifiers.org/clinvar/100500 ^@ NM_000552.4(VWF):c.8311T>A (p.Cys2771Ser) http://identifiers.org/clinvar/100501 ^@ NM_000552.4(VWF):c.8312G>A (p.Cys2771Tyr) http://identifiers.org/clinvar/100502 ^@ NM_000552.4(VWF):c.8316delC (p.Cys2773Alafs) http://identifiers.org/clinvar/100503 ^@ NM_000552.4(VWF):c.8318G>C (p.Cys2773Ser) http://identifiers.org/clinvar/100504 ^@ NM_000552.4(VWF):c.8327C>T (p.Pro2776Leu) http://identifiers.org/clinvar/100505 ^@ NM_000552.4(VWF):c.8341C>T (p.Pro2781Ser) http://identifiers.org/clinvar/100506 ^@ NM_000552.4(VWF):c.8402C>A (p.Ala2801Asp) http://identifiers.org/clinvar/100507 ^@ NM_000552.4(VWF):c.8411G>A (p.Cys2804Tyr) http://identifiers.org/clinvar/100508 ^@ NM_000552.4(VWF):c.8412_8413insTCCCC (p.Lys2805Serfs) http://identifiers.org/clinvar/100509 ^@ NM_000552.4(VWF):c.8416T>C (p.Cys2806Arg) http://identifiers.org/clinvar/100510 ^@ NM_000552.4(VWF):c.874+1G>A http://identifiers.org/clinvar/100511 ^@ NM_000552.4(VWF):c.893dupG (p.Met299Tyrfs) http://identifiers.org/clinvar/100512 ^@ NM_000552.4(VWF):c.970C>T (p.Arg324Ter) http://identifiers.org/clinvar/100513 ^@ NM_000552.4(VWF):c.971G>A (p.Arg324Gln) http://identifiers.org/clinvar/100514 ^@ NM_000552.4(VWF):c.988dupA (p.Ser330Lysfs) http://identifiers.org/clinvar/100515 ^@ NM_003590.4(CUL3):c.1207-12T>G http://identifiers.org/clinvar/100516 ^@ NM_003590.4(CUL3):c.1207-1G>A http://identifiers.org/clinvar/100517 ^@ NM_003590.4(CUL3):c.1207-26A>G http://identifiers.org/clinvar/100518 ^@ NM_003590.4(CUL3):c.1207-28T>G http://identifiers.org/clinvar/100519 ^@ NM_003590.4(CUL3):c.1207-3C>T http://identifiers.org/clinvar/100520 ^@ NM_003590.4(CUL3):c.1207-5T>A http://identifiers.org/clinvar/100521 ^@ NM_003590.4(CUL3):c.1236G>A (p.Leu412=) http://identifiers.org/clinvar/100522 ^@ NM_003590.4(CUL3):c.1376A>G (p.Lys459Arg) http://identifiers.org/clinvar/100523 ^@ NM_003590.4(CUL3):c.1376_1377+4delAGGTAA http://identifiers.org/clinvar/100524 ^@ NM_003590.4(CUL3):c.1377dupG (p.Thr460Aspfs) http://identifiers.org/clinvar/100525 ^@ NM_003590.4(CUL3):c.1377+1G>C http://identifiers.org/clinvar/100526 ^@ NM_003590.4(CUL3):c.1377+3A>G http://identifiers.org/clinvar/100527 ^@ NM_017415.2(KLHL3):c.1410G>A (p.Trp470Ter) http://identifiers.org/clinvar/100528 ^@ NM_017415.2(KLHL3):c.721delC (p.Leu241Phefs) http://identifiers.org/clinvar/100529 ^@ NM_017415.2(KLHL3):c.753+1G>A http://identifiers.org/clinvar/100530 ^@ NM_017415.2(KLHL3):c.1019C>T (p.Ala340Val) http://identifiers.org/clinvar/100531 ^@ NM_017415.2(KLHL3):c.1480G>A (p.Ala494Thr) http://identifiers.org/clinvar/100532 ^@ NM_017415.2(KLHL3):c.230C>A (p.Ala77Glu) http://identifiers.org/clinvar/100533 ^@ NM_017415.2(KLHL3):c.491G>T (p.Cys164Phe) http://identifiers.org/clinvar/100534 ^@ NM_017415.2(KLHL3):c.254A>C (p.Glu85Ala) http://identifiers.org/clinvar/100536 ^@ NM_017415.2(KLHL3):c.1160T>C (p.Leu387Pro) http://identifiers.org/clinvar/100537 ^@ NM_017415.2(KLHL3):c.1280T>C (p.Met427Thr) http://identifiers.org/clinvar/100538 ^@ NM_017415.2(KLHL3):c.232A>G (p.Met78Val) http://identifiers.org/clinvar/100539 ^@ NM_017415.2(KLHL3):c.1501C>A (p.Pro501Thr) http://identifiers.org/clinvar/100540 ^@ NM_017415.2(KLHL3):c.430C>T (p.Gln144Ter) http://identifiers.org/clinvar/100541 ^@ NM_017415.2(KLHL3):c.926A>G (p.Gln309Arg) http://identifiers.org/clinvar/100544 ^@ NM_017415.2(KLHL3):c.1151G>A (p.Arg384Gln) http://identifiers.org/clinvar/100545 ^@ NM_017415.2(KLHL3):c.1292G>A (p.Arg431Gln) http://identifiers.org/clinvar/100548 ^@ NM_017415.2(KLHL3):c.1723C>T (p.Arg575Trp) http://identifiers.org/clinvar/100550 ^@ NM_017415.2(KLHL3):c.1295G>A (p.Ser432Asn) http://identifiers.org/clinvar/100553 ^@ NM_000180.3(GUCY2D):c.1720C>T (p.Arg574Cys) http://identifiers.org/clinvar/100554 ^@ NM_000322.4(PRPH2):c.933C>T (p.Ser311=) http://identifiers.org/clinvar/100555 ^@ NM_000350.2(ABCA4):c.3595C>T (p.Gln1199Ter) http://identifiers.org/clinvar/100556 ^@ NM_000440.2(PDE6A):c.1546C>G (p.Leu516Val) http://identifiers.org/clinvar/100557 ^@ NM_000440.2(PDE6A):c.879G>A (p.Pro293=) http://identifiers.org/clinvar/100558 ^@ NM_000717.4(CA4):c.700G>A (p.Val234Ile) http://identifiers.org/clinvar/100559 ^@ NM_000717.4(CA4):c.716G>A (p.Arg239Gln) http://identifiers.org/clinvar/100560 ^@ NM_001034853.1(RPGR):c.223A>G (p.Ile75Val) http://identifiers.org/clinvar/100561 ^@ NM_001077182.2(FSCN2):c.49G>A (p.Val17Ile) http://identifiers.org/clinvar/100562 ^@ NM_001139443.1(BEST1):c.1748C>T (p.Ser583Leu) http://identifiers.org/clinvar/100563 ^@ NM_001145291.1(PDE6B):c.143G>A (p.Arg48Gln) http://identifiers.org/clinvar/100564 ^@ NM_001178007.1(BBS12):c.1381A>C (p.Asn461His) http://identifiers.org/clinvar/100565 ^@ NM_001178007.1(BBS12):c.1847G>A (p.Ser616Asn) http://identifiers.org/clinvar/100566 ^@ NM_001297.4(CNGB1):c.1473G>A (p.Pro491=) http://identifiers.org/clinvar/100567 ^@ NM_001297.4(CNGB1):c.1604T>C (p.Val535Ala) http://identifiers.org/clinvar/100568 ^@ NM_001297.4(CNGB1):c.2747G>A (p.Arg916His) http://identifiers.org/clinvar/100569 ^@ NM_001297.4(CNGB1):c.2882C>T (p.Ala961Val) http://identifiers.org/clinvar/100570 ^@ NM_001793.5(CDH3):c.1285G>A (p.Val429Ile) http://identifiers.org/clinvar/100571 ^@ NM_002098.5(GUCA1B):c.253G>A (p.Val85Met) http://identifiers.org/clinvar/100572 ^@ NM_002775.4(HTRA1):c.753C>T (p.Ile251=) http://identifiers.org/clinvar/100573 ^@ NM_002921.3(RGR):c.734C>T (p.Ser245Phe) http://identifiers.org/clinvar/100574 ^@ NM_004744.4(LRAT):c.74T>A (p.Phe25Tyr) http://identifiers.org/clinvar/100575 ^@ NM_005183.3(CACNA1F):c.4161G>T (p.Glu1387Asp) http://identifiers.org/clinvar/100576 ^@ NM_005183.3(CACNA1F):c.5789G>A (p.Arg1930His) http://identifiers.org/clinvar/100577 ^@ NM_006017.2(PROM1):c.1557C>A (p.Tyr519Ter) http://identifiers.org/clinvar/100578 ^@ NM_006017.2(PROM1):c.1768-5C>T http://identifiers.org/clinvar/100579 ^@ NM_006269.1(RP1):c.2255C>T (p.Thr752Met) http://identifiers.org/clinvar/100580 ^@ NM_006269.1(RP1):c.6055G>A (p.Gly2019Ser) http://identifiers.org/clinvar/100581 ^@ NM_006343.2(MERTK):c.2608G>A (p.Val870Ile) http://identifiers.org/clinvar/100582 ^@ NM_006343.2(MERTK):c.878G>A (p.Arg293His) http://identifiers.org/clinvar/100583 ^@ NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) http://identifiers.org/clinvar/100585 ^@ NM_014336.4(AIPL1):c.937G>T (p.Ala313Ser) http://identifiers.org/clinvar/100586 ^@ NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) http://identifiers.org/clinvar/100587 ^@ NM_019098.4(CNGB3):c.384C>T (p.Ala128=) http://identifiers.org/clinvar/100588 ^@ NM_019098.4(CNGB3):c.80A>G (p.Asn27Ser) http://identifiers.org/clinvar/100589 ^@ NM_020366.3(RPGRIP1):c.3358A>G (p.Ile1120Val) http://identifiers.org/clinvar/100590 ^@ NM_022124.5(CDH23):c.8411A>G (p.Lys2804Arg) http://identifiers.org/clinvar/100591 ^@ NM_024649.4(BBS1):c.316C>G (p.Leu106Val) http://identifiers.org/clinvar/100592 ^@ NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) http://identifiers.org/clinvar/100593 ^@ NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) http://identifiers.org/clinvar/100594 ^@ NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) http://identifiers.org/clinvar/100595 ^@ NM_031885.3(BBS2):c.1511C>T (p.Ala504Val) http://identifiers.org/clinvar/100596 ^@ NM_031935.2(HMCN1):c.13313-4G>A http://identifiers.org/clinvar/100597 ^@ NM_031935.2(HMCN1):c.14158G>A (p.Ala4720Thr) http://identifiers.org/clinvar/100598 ^@ NM_031935.2(HMCN1):c.5482A>G (p.Ile1828Val) http://identifiers.org/clinvar/100599 ^@ NM_031935.2(HMCN1):c.6917G>A (p.Arg2306Gln) http://identifiers.org/clinvar/100600 ^@ NM_031935.2(HMCN1):c.9397A>G (p.Ile3133Val) http://identifiers.org/clinvar/100601 ^@ NM_032119.3(ADGRV1):c.16308C>A (p.Thr5436=) http://identifiers.org/clinvar/100602 ^@ NM_032119.3(ADGRV1):c.18273A>G (p.Ala6091=) http://identifiers.org/clinvar/100603 ^@ NM_133497.3(KCNV2):c.-2C>T http://identifiers.org/clinvar/100604 ^@ NM_138554.4(TLR4):c.842G>A (p.Cys281Tyr) http://identifiers.org/clinvar/100605 ^@ NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) http://identifiers.org/clinvar/100606 ^@ NM_172364.4(CACNA2D4):c.2065A>G (p.Ile689Val) http://identifiers.org/clinvar/100607 ^@ NM_172364.4(CACNA2D4):c.2517G>A (p.Ala839=) http://identifiers.org/clinvar/100608 ^@ NM_198310.3(TTC8):c.505-5C>T http://identifiers.org/clinvar/100609 ^@ NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) http://identifiers.org/clinvar/100610 ^@ NM_206933.2(USH2A):c.14792-2A>G http://identifiers.org/clinvar/100611 ^@ NM_207352.3(CYP4V2):c.1114G>A (p.Val372Ile) http://identifiers.org/clinvar/100612 ^@ NM_004102.4(FABP3):c.246+16_246+17del http://identifiers.org/clinvar/100613 ^@ NM_004102.4(FABP3):c.349-14_349-13del http://identifiers.org/clinvar/100616 ^@ NM_000552.4(VWF):c.4024C>T (p.Arg1342Cys) http://identifiers.org/clinvar/100625 ^@ NM_001021.4(RPS17):c.159T>G (p.Tyr53Ter) http://identifiers.org/clinvar/100626 ^@ NM_000073.2(CD3G):c.205A>T (p.Lys69Ter) http://identifiers.org/clinvar/100627 ^@ NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) http://identifiers.org/clinvar/100628 ^@ NC_000023.11:g.(68839265_68839268)_(68847656_68847659)del http://identifiers.org/clinvar/100629 ^@ NM_004366.5(CLCN2):c.1709G>A (p.Trp570Ter) http://identifiers.org/clinvar/100630 ^@ NM_004366.5(CLCN2):c.430_435delCTCATC (p.Leu144_Ile145del) http://identifiers.org/clinvar/100631 ^@ NM_004366.5(CLCN2):c.1499C>T (p.Ala500Val) http://identifiers.org/clinvar/100632 ^@ NM_004366.5(CLCN2):c.828dupG (p.Arg277Alafs) http://identifiers.org/clinvar/100633 ^@ NM_004608.3(TBX6):c.1311A>T (p.Ter437Cys) http://identifiers.org/clinvar/100634 ^@ NM_003859.2(DPM1):c.742T>C (p.Ser248Pro) http://identifiers.org/clinvar/100635 ^@ NM_003859.2(DPM1):c.373-5T>A http://identifiers.org/clinvar/100636 ^@ NM_003859.2(DPM1):c.455G>T (p.Gly152Val) http://identifiers.org/clinvar/100637 ^@ NG_008923.1:g.(8339_14860)_(22659_27261)del http://identifiers.org/clinvar/100638 ^@ NM_000969.3(RPL5):c.244G>T (p.Glu82Ter) http://identifiers.org/clinvar/100639 ^@ NM_000969.3(RPL5):c.664C>T (p.Gln222Ter) http://identifiers.org/clinvar/100640 ^@ NM_000975.3(RPL11):c.476_477delAA (p.Lys159Argfs) http://identifiers.org/clinvar/100641 ^@ NM_000975.3(RPL11):c.204delT (p.Ile68Metfs) http://identifiers.org/clinvar/100642 ^@ NM_005763.3(AASS):c.2662+1_2662+5delGTAAGinsTT http://identifiers.org/clinvar/100643 ^@ NM_005763.3(AASS):c.874A>G (p.Ile292Val) http://identifiers.org/clinvar/100644 ^@ NM_005763.3(AASS):c.976_977delCA (p.Gln326Glufs) http://identifiers.org/clinvar/100645 ^@ NM_005763.3(AASS):c.1925C>G (p.Ser642Ter) http://identifiers.org/clinvar/100646 ^@ NM_005763.3(AASS):c.194G>A (p.Arg65Gln) http://identifiers.org/clinvar/100647 ^@ NM_005763.3(AASS):c.1256T>G (p.Leu419Arg) http://identifiers.org/clinvar/100648 ^@ NM_016373.3(WWOX):c.1114G>C (p.Gly372Arg) http://identifiers.org/clinvar/100649 ^@ NM_016373.3(WWOX):c.139C>A (p.Pro47Thr) http://identifiers.org/clinvar/100650 ^@ NM_004826.3(ECEL1):c.2278T>C (p.Cys760Arg) http://identifiers.org/clinvar/100651 ^@ NM_004826.3(ECEL1):c.1649C>G (p.Ser550Ter) http://identifiers.org/clinvar/100652 ^@ NM_004826.3(ECEL1):c.1685+1G>T http://identifiers.org/clinvar/100653 ^@ NM_020919.3(ALS2):c.2761C>T (p.Arg921Ter) http://identifiers.org/clinvar/100654 ^@ NM_144672.3(OTOA):c.1352G>A (p.Gly451Asp) http://identifiers.org/clinvar/100655 ^@ NM_144672.3(OTOA):c.1879C>T (p.Pro627Ser) http://identifiers.org/clinvar/100656 ^@ NM_013266.3(CTNNA3):c.281T>A (p.Val94Asp) http://identifiers.org/clinvar/100657 ^@ NM_013266.3(CTNNA3):c.2296_2298delTTG (p.Leu766del) http://identifiers.org/clinvar/100659 ^@ NM_138395.3(MARS2):c.682_949del268 (p.Gly228Profs) http://identifiers.org/clinvar/100660 ^@ DUP1 http://identifiers.org/clinvar/100661 ^@ MARS2, DUP2 http://identifiers.org/clinvar/100662 ^@ NM_025233.6(COASY):c.1495C>T (p.Arg499Cys) http://identifiers.org/clinvar/100663 ^@ NM_025233.6(COASY):c.175C>T (p.Gln59Ter) http://identifiers.org/clinvar/100664 ^@ NM_014908.3(DOLK):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/100665 ^@ NM_020800.2(IFT80):c.721G>A (p.Gly241Arg) http://identifiers.org/clinvar/100666 ^@ NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) http://identifiers.org/clinvar/100667 ^@ NM_024790.6(CSPP1):c.2244_2245delAA (p.Glu750Glyfs) http://identifiers.org/clinvar/100668 ^@ NM_024790.6(CSPP1):c.2280delA (p.Glu761Lysfs) http://identifiers.org/clinvar/100669 ^@ NM_024790.6(CSPP1):c.3212dupA (p.Tyr1071Terfs) http://identifiers.org/clinvar/100670 ^@ NM_024790.6(CSPP1):c.2953+1G>A http://identifiers.org/clinvar/100671 ^@ NM_024790.6(CSPP1):c.2527_2528delAT (p.Met843Glufs) http://identifiers.org/clinvar/100672 ^@ NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) http://identifiers.org/clinvar/100673 ^@ NM_024790.6(CSPP1):c.363_364delTA (p.His121Glnfs) http://identifiers.org/clinvar/100674 ^@ NM_024790.6(CSPP1):c.2244_2247delAAGA (p.Glu750Lysfs) http://identifiers.org/clinvar/100675 ^@ NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter) http://identifiers.org/clinvar/100676 ^@ NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter) http://identifiers.org/clinvar/100677 ^@ NM_001199107.1(TBC1D24):c.208G>T (p.Asp70Tyr) http://identifiers.org/clinvar/100678 ^@ NM_001199107.1(TBC1D24):c.878G>C (p.Arg293Pro) http://identifiers.org/clinvar/100679 ^@ NM_007059.3(KPTN):c.776C>A (p.Ser259Ter) http://identifiers.org/clinvar/100680 ^@ NM_007059.3(KPTN):c.714_731dup18 (p.Gln246_Asp247insMetTrpSerValLeuGln) http://identifiers.org/clinvar/100687 ^@ NM_001453.2(FOXC1):c.141C>G (p.Tyr47Ter) http://identifiers.org/clinvar/100688 ^@ NM_001453.2(FOXC1):c.377T>G (p.Ile126Ser) http://identifiers.org/clinvar/100690 ^@ NM_170707.3(LMNA):c.1620G>A (p.Met540Ile) http://identifiers.org/clinvar/100691 ^@ NM_000255.3(MUT):c.-39-13T>G http://identifiers.org/clinvar/100692 ^@ NM_000255.3(MUT):c.-39-9delT http://identifiers.org/clinvar/100693 ^@ NM_000255.3(MUT):c.-39-3T>A http://identifiers.org/clinvar/100694 ^@ NM_000255.3(MUT):c.-39-3delT http://identifiers.org/clinvar/100695 ^@ NM_000255.3(MUT):c.-39-1_-39insA http://identifiers.org/clinvar/100696 ^@ NM_000255.3(MUT):c.-37C>A http://identifiers.org/clinvar/100697 ^@ NM_000255.3(MUT):c.-35G>T http://identifiers.org/clinvar/100698 ^@ NM_000255.3(MUT):c.-34T>A http://identifiers.org/clinvar/100699 ^@ NM_000255.3(MUT):c.-34_-33insA http://identifiers.org/clinvar/100700 ^@ NM_000255.3(MUT):c.-17T>A http://identifiers.org/clinvar/100701 ^@ NM_000255.3(MUT):c.-13T>A http://identifiers.org/clinvar/100702 ^@ NM_000255.3(MUT):c.-11C>A http://identifiers.org/clinvar/100703 ^@ NM_000255.3(MUT):c.-6T>A http://identifiers.org/clinvar/100704 ^@ NM_000255.3(MUT):c.7delA (p.Arg3Glufs) http://identifiers.org/clinvar/100705 ^@ NM_000255.3(MUT):c.15G>A (p.Lys5=) http://identifiers.org/clinvar/100706 ^@ NM_000255.3(MUT):c.165C>A (p.Asn55Lys) http://identifiers.org/clinvar/100707 ^@ NM_000255.3(MUT):c.323G>A (p.Arg108His) http://identifiers.org/clinvar/100708 ^@ NM_000255.3(MUT):c.385+9T>C http://identifiers.org/clinvar/100709 ^@ NM_000255.3(MUT):c.385+18_385+19insT http://identifiers.org/clinvar/100710 ^@ NM_000255.3(MUT):c.385+29delT http://identifiers.org/clinvar/100711 ^@ NM_000255.3(MUT):c.385+30A>C http://identifiers.org/clinvar/100712 ^@ NM_000255.3(MUT):c.385+31delT http://identifiers.org/clinvar/100713 ^@ NM_000255.3(MUT):c.385+33A>C http://identifiers.org/clinvar/100714 ^@ NM_000255.3(MUT):c.385+34_385+35insC http://identifiers.org/clinvar/100715 ^@ NM_000255.3(MUT):c.385+43delT http://identifiers.org/clinvar/100716 ^@ NM_000255.3(MUT):c.385+46delC http://identifiers.org/clinvar/100718 ^@ NM_000046.3:c.384_386delCTC http://identifiers.org/clinvar/100719 ^@ NM_000086.2(CLN3):c.371_372insT (p.Ser125Glnfs) http://identifiers.org/clinvar/100720 ^@ NM_000147.4(FUCA1):c.464C>T (p.Ser155Phe) http://identifiers.org/clinvar/100721 ^@ NM_000147.4(FUCA1):c.790C>T (p.Arg264Ter) http://identifiers.org/clinvar/100722 ^@ NM_000181.3(GUSB):c.530C>T (p.Thr177Ile) http://identifiers.org/clinvar/100723 ^@ NM_000203.4(IDUA):c.1874A>G (p.Tyr625Cys) http://identifiers.org/clinvar/100724 ^@ NM_000308.3(CTSA):c.284delC (p.Pro95Leufs) http://identifiers.org/clinvar/100725 ^@ NM_000404.3(GLB1):c.1188dupG (p.Pro397Alafs) http://identifiers.org/clinvar/100726 ^@ NM_000404.2:c.672_673delAT http://identifiers.org/clinvar/100727 ^@ NM_000404.3(GLB1):c.922T>C (p.Phe308Leu) http://identifiers.org/clinvar/100728 ^@ NM_000405.4(GM2A):c.333delC (p.Cys112Valfs) http://identifiers.org/clinvar/100729 ^@ NM_000520.5(HEXA):c.1305C>T (p.Tyr435=) http://identifiers.org/clinvar/100730 ^@ NM_000520.5(HEXA):c.718_719insT (p.Lys240Ilefs) http://identifiers.org/clinvar/100731 ^@ NM_000543.4(SMPD1):c.739G>A (p.Gly247Ser) http://identifiers.org/clinvar/100732 ^@ NM_001909.4(CTSD):c.470C>T (p.Ser157Leu) http://identifiers.org/clinvar/100733 ^@ NM_001909.4:c.486-12G>A http://identifiers.org/clinvar/100734 ^@ NM_006432.3(NPC2):c.441+1G>A http://identifiers.org/clinvar/100735 ^@ NM_012434.4(SLC17A5):c.500T>C (p.Leu167Pro) http://identifiers.org/clinvar/100736 ^@ NM_018941.3(CLN8):c.792C>G (p.Asn264Lys) http://identifiers.org/clinvar/100737 ^@ NM_024312.4(GNPTAB):c.1774G>A (p.Ala592Thr) http://identifiers.org/clinvar/100738 ^@ NM_024312.4(GNPTAB):c.2354T>G (p.Leu785Trp) http://identifiers.org/clinvar/100744 ^@ NM_000211.4(ITGB2):c.1030G>T (p.Glu344Ter) http://identifiers.org/clinvar/100745 ^@ NM_000211.4(ITGB2):c.1062T= (p.His354=) http://identifiers.org/clinvar/100746 ^@ NM_000211.4(ITGB2):c.1101C>A (p.Val367=) http://identifiers.org/clinvar/100747 ^@ NM_000211.4(ITGB2):c.1143delC (p.Tyr382Thrfs) http://identifiers.org/clinvar/100748 ^@ NM_000211.4(ITGB2):c.1877+2T>C http://identifiers.org/clinvar/100749 ^@ NM_000211.4(ITGB2):c.1878-41dup http://identifiers.org/clinvar/100750 ^@ NM_000211.4(ITGB2):c.1907delA (p.Lys636Argfs) http://identifiers.org/clinvar/100751 ^@ NM_000211.4(ITGB2):c.2247+57C>T http://identifiers.org/clinvar/100752 ^@ NM_000211.4(ITGB2):c.2248-127G>C http://identifiers.org/clinvar/100753 ^@ NM_000211.4(ITGB2):c.24G>T (p.Leu8=) http://identifiers.org/clinvar/100754 ^@ NM_000211.4(ITGB2):c.329-6C>T http://identifiers.org/clinvar/100755 ^@ NM_000211.4(ITGB2):c.381C>T (p.Ile127=) http://identifiers.org/clinvar/100756 ^@ NM_000211.4(ITGB2):c.500-11G>T http://identifiers.org/clinvar/100757 ^@ NM_000211.4(ITGB2):c.576dupC (p.Asn193Glnfs) http://identifiers.org/clinvar/100758 ^@ NM_000211.4(ITGB2):c.58+12G>A http://identifiers.org/clinvar/100759 ^@ NM_000211.4(ITGB2):c.706G>A (p.Gly236Arg) http://identifiers.org/clinvar/100760 ^@ NM_000211.4(ITGB2):c.742-13G>A http://identifiers.org/clinvar/100761 ^@ NM_000211.4(ITGB2):c.819G>A (p.Gly273=) http://identifiers.org/clinvar/100762 ^@ NM_000211.4(ITGB2):c.843delC (p.Asn282Thrfs) http://identifiers.org/clinvar/100763 ^@ NM_000211.4(ITGB2):c.897+1G>A http://identifiers.org/clinvar/100764 ^@ NM_000211.4(ITGB2):c.897+1G>T http://identifiers.org/clinvar/100765 ^@ NM_000211.4(ITGB2):c.994-47G>A http://identifiers.org/clinvar/100766 ^@ NM_203330.2(CD59):c.146delA (p.Asp49Valfs) http://identifiers.org/clinvar/100767 ^@ NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly) http://identifiers.org/clinvar/100768 ^@ NM_021252.4(RAB18):c.284C>G (p.Thr95Arg) http://identifiers.org/clinvar/100769 ^@ NM_001172435.1(RAB3GAP1):c.899+1G>A http://identifiers.org/clinvar/100770 ^@ NM_001172435.1(RAB3GAP1):c.2037_2055dup19 (p.Phe686Alafs) http://identifiers.org/clinvar/100771 ^@ NM_001172435.1(RAB3GAP1):c.52A>C (p.Thr18Pro) http://identifiers.org/clinvar/100772 ^@ NM_001172435.1(RAB3GAP1):c.71A>T (p.Glu24Val) http://identifiers.org/clinvar/100773 ^@ NM_002601.3(PDE6D):c.140-1G>A http://identifiers.org/clinvar/100774 ^@ NM_144628.3(TBC1D20):c.199C>T (p.Arg67Ter) http://identifiers.org/clinvar/100775 ^@ NM_144628.3(TBC1D20):c.292C>T (p.Gln98Ter) http://identifiers.org/clinvar/100776 ^@ NM_144628.3(TBC1D20):c.352_353delCA (p.Gln118Glufs) http://identifiers.org/clinvar/100777 ^@ NM_144628.3(TBC1D20):c.672G>A (p.Trp224Ter) http://identifiers.org/clinvar/100778 ^@ NM_144628.2(TBC1D20):c.71-?_*1+?del http://identifiers.org/clinvar/100781 ^@ NM_001830.3(CLCN4):c.1630G>A (p.Gly544Arg) http://identifiers.org/clinvar/100782 ^@ NM_001958.3(EEF1A2):c.208G>A (p.Gly70Ser) http://identifiers.org/clinvar/100783 ^@ NM_001407.2(CELSR3):c.6407G>A (p.Gly2136Asp) http://identifiers.org/clinvar/100784 ^@ NM_139318.4(KCNH5):c.980G>A (p.Arg327His) http://identifiers.org/clinvar/100785 ^@ NM_001174051.2(CACNA2D2):c.1295delA (p.Asn432Thrfs) http://identifiers.org/clinvar/100786 ^@ NM_025014.1(ARHGEF15):c.1810C>T (p.Arg604Cys) http://identifiers.org/clinvar/100787 ^@ NM_012414.3(RAB3GAP2):c.1276C>T (p.Arg426Cys) http://identifiers.org/clinvar/100788 ^@ NM_012414.3(RAB3GAP2):c.1434G>A (p.Trp478Ter) http://identifiers.org/clinvar/100789 ^@ NM_012414.3(RAB3GAP2):c.3637C>T (p.Arg1213Ter) http://identifiers.org/clinvar/100790 ^@ NM_012414.3(RAB3GAP2):c.3085G>T (p.Glu1029Ter) http://identifiers.org/clinvar/100796 ^@ NM_006563.4(KLF1):c.1001C>G (p.Thr334Arg) http://identifiers.org/clinvar/100797 ^@ NM_006563.4(KLF1):c.1022G>A (p.Cys341Tyr) http://identifiers.org/clinvar/100798 ^@ NM_006563.4(KLF1):c.13G>A (p.Glu5Lys) http://identifiers.org/clinvar/100799 ^@ NM_006563.4(KLF1):c.519_525dupCGGCGCC (p.Gly176Argfs) http://identifiers.org/clinvar/100800 ^@ NM_006563.4(KLF1):c.895C>G (p.His299Asp) http://identifiers.org/clinvar/100801 ^@ NM_006563.4(KLF1):c.913+1G>A http://identifiers.org/clinvar/100802 ^@ NM_000043.5(FAS):c.785T>C (p.Ile262Thr) http://identifiers.org/clinvar/100803 ^@ NM_000053.3(ATP7B):c.2672G>C (p.Gly891Ala) http://identifiers.org/clinvar/100804 ^@ NM_000244.3(MEN1):c.1762T>G (p.Ser588Ala) http://identifiers.org/clinvar/100805 ^@ NM_000259.3(MYO5A):c.2573G>T (p.Arg858Leu) http://identifiers.org/clinvar/100806 ^@ NM_000274.3(OAT):c.293T>C (p.Val98Ala) http://identifiers.org/clinvar/100807 ^@ NM_000299.3(PKP1):c.1199C>T (p.Pro400Leu) http://identifiers.org/clinvar/100808 ^@ NM_000321.2(RB1):c.1960G>A (p.Val654Met) http://identifiers.org/clinvar/100809 ^@ NM_000321.2(RB1):c.1994T>G (p.Leu665Arg) http://identifiers.org/clinvar/100810 ^@ NM_000392.4(ABCC2):c.2352A>G (p.Leu784=) http://identifiers.org/clinvar/100811 ^@ NM_000419.4(ITGA2B):c.798G>A (p.Trp266Ter) http://identifiers.org/clinvar/100812 ^@ NM_000439.4(PCSK1):c.700A>G (p.Lys234Glu) http://identifiers.org/clinvar/100813 ^@ NM_000466.2(PEX1):c.3645A>T (p.Glu1215Asp) http://identifiers.org/clinvar/100814 ^@ NM_000546.5(TP53):c.587G>T (p.Arg196Leu) http://identifiers.org/clinvar/100815 ^@ NM_000546.5(TP53):c.736A>G (p.Met246Val) http://identifiers.org/clinvar/100816 ^@ NM_000546.5(TP53):c.887A>G (p.His296Arg) http://identifiers.org/clinvar/100817 ^@ NM_000896.2(CYP4F3):c.824G>A (p.Arg275His) http://identifiers.org/clinvar/100818 ^@ NM_001003841.2(SLC6A19):c.1540T>G (p.Phe514Val) http://identifiers.org/clinvar/100819 ^@ NM_001005463.2(EBF3):c.534A>T (p.Ser178=) http://identifiers.org/clinvar/100820 ^@ NM_001009613.2(SPANXN4):c.169A>G (p.Arg57Gly) http://identifiers.org/clinvar/100821 ^@ NM_001033855.2(DCLRE1C):c.1342A>G (p.Asn448Asp) http://identifiers.org/clinvar/100822 ^@ NM_001076683.1(UBTF):c.2053G>T (p.Asp685Tyr) http://identifiers.org/clinvar/100823 ^@ NM_001081.3(CUBN):c.4268C>T (p.Thr1423Met) http://identifiers.org/clinvar/100824 ^@ NM_001081550.1(THOC2):c.278T>C (p.Ile93Thr) http://identifiers.org/clinvar/100825 ^@ NM_001105568.2(KIF13A):c.2511T>C (p.Arg837=) http://identifiers.org/clinvar/100826 ^@ NM_001122821.1(SET):c.319G>C (p.Ala107Pro) http://identifiers.org/clinvar/100827 ^@ NM_001135774.1(SYN3):c.1247C>T (p.Ala416Val) http://identifiers.org/clinvar/100828 ^@ NM_001146312.2(MYOCD):c.543C>T (p.Asp181=) http://identifiers.org/clinvar/100829 ^@ NM_001193582.1(NRCAM):c.3485T>G (p.Leu1162Arg) http://identifiers.org/clinvar/100830 ^@ NM_001270974.2(HYDIN):c.6449T>G (p.Val2150Gly) http://identifiers.org/clinvar/100831 ^@ NM_001277115.1(DNAH11):c.4072G>A (p.Val1358Ile) http://identifiers.org/clinvar/100832 ^@ NM_001278.4(CHUK):c.1270C>G (p.Arg424Gly) http://identifiers.org/clinvar/100833 ^@ NM_001363.4(DKC1):c.1147G>A (p.Gly383Ser) http://identifiers.org/clinvar/100834 ^@ NM_001457.3(FLNB):c.7455C>A (p.Thr2485=) http://identifiers.org/clinvar/100835 ^@ NM_001780.5(CD63):c.486G>A (p.Lys162=) http://identifiers.org/clinvar/100836 ^@ NM_001830.3(CLCN4):c.2183C>T (p.Thr728Met) http://identifiers.org/clinvar/100837 ^@ NM_001904.3(CTNNB1):c.723G>A (p.Val241=) http://identifiers.org/clinvar/100838 ^@ NM_002293.3(LAMC1):c.814T>C (p.Ser272Pro) http://identifiers.org/clinvar/100839 ^@ NM_002471.3(MYH6):c.5036G>T (p.Arg1679Leu) http://identifiers.org/clinvar/100840 ^@ NM_002472.2(MYH8):c.398G>T (p.Trp133Leu) http://identifiers.org/clinvar/100841 ^@ NM_002499.3(NEO1):c.2935C>G (p.Pro979Ala) http://identifiers.org/clinvar/100842 ^@ NM_002851.2(PTPRZ1):c.663G>T (p.Leu221=) http://identifiers.org/clinvar/100843 ^@ NM_003153.4(STAT6):c.278T>G (p.Leu93Arg) http://identifiers.org/clinvar/100844 ^@ NM_003571.3(BFSP2):c.861G>A (p.Arg287=) http://identifiers.org/clinvar/100845 ^@ NM_003630.2(PEX3):c.184C>A (p.Gln62Lys) http://identifiers.org/clinvar/100846 ^@ NM_003705.4(SLC25A12):c.1417C>T (p.Arg473Trp) http://identifiers.org/clinvar/100847 ^@ NM_003844.3(TNFRSF10A):c.355G>A (p.Gly119Ser) http://identifiers.org/clinvar/100848 ^@ NM_003896.3(ST3GAL5):c.714T>C (p.Thr238=) http://identifiers.org/clinvar/100849 ^@ NM_004961.3(GABRE):c.975C>A (p.Thr325=) http://identifiers.org/clinvar/100850 ^@ NM_005235.2(ERBB4):c.2706C>T (p.Asp902=) http://identifiers.org/clinvar/100851 ^@ NM_005417.4(SRC):c.1200C>G (p.Asn400Lys) http://identifiers.org/clinvar/100852 ^@ NM_005968.4(HNRNPM):c.2129G>A (p.Arg710Gln) http://identifiers.org/clinvar/100853 ^@ NM_006031.5(PCNT):c.2167C>G (p.Leu723Val) http://identifiers.org/clinvar/100854 ^@ NM_006277.2(ITSN2):c.4732G>T (p.Ala1578Ser) http://identifiers.org/clinvar/100855 ^@ NM_006594.4(AP4B1):c.165G>A (p.Lys55=) http://identifiers.org/clinvar/100856 ^@ NM_006749.4(SLC20A2):c.353T>C (p.Ile118Thr) http://identifiers.org/clinvar/100857 ^@ NM_007329.2(DMBT1):c.1012T>C (p.Ser338Pro) http://identifiers.org/clinvar/100858 ^@ NM_013427.2(ARHGAP6):c.1675G>T (p.Gly559Ter) http://identifiers.org/clinvar/100859 ^@ NM_014244.4(ADAMTS2):c.997G>A (p.Gly333Arg) http://identifiers.org/clinvar/100860 ^@ NM_014476.5(PDLIM3):c.925C>T (p.Arg309Trp) http://identifiers.org/clinvar/100861 ^@ NM_015185.2(ARHGEF9):c.1045C>A (p.Leu349Ile) http://identifiers.org/clinvar/100862 ^@ NM_015340.3(LARS2):c.1584G>C (p.Trp528Cys) http://identifiers.org/clinvar/100863 ^@ NM_015506.2(MMACHC):c.649G>T (p.Glu217Ter) http://identifiers.org/clinvar/100864 ^@ NM_015600.4(ABHD12):c.935T>G (p.Phe312Cys) http://identifiers.org/clinvar/100865 ^@ NM_017433.4(MYO3A):c.2845G>T (p.Val949Phe) http://identifiers.org/clinvar/100866 ^@ NM_017662.4(TRPM6):c.5600A>G (p.His1867Arg) http://identifiers.org/clinvar/100867 ^@ NM_017752.2(TBC1D8B):c.528T>C (p.Gly176=) http://identifiers.org/clinvar/100868 ^@ NM_018031.4(WDR6):c.2047T>G (p.Cys683Gly) http://identifiers.org/clinvar/100869 ^@ NM_018081.2(WRAP53):c.1510T>C (p.Ser504Pro) http://identifiers.org/clinvar/100870 ^@ NM_018230.2(NUP133):c.3432G>C (p.Leu1144Phe) http://identifiers.org/clinvar/100871 ^@ NM_018328.4(MBD5):c.904A>G (p.Thr302Ala) http://identifiers.org/clinvar/100872 ^@ NM_018451.4(CENPJ):c.3725G>A (p.Arg1242Lys) http://identifiers.org/clinvar/100873 ^@ NM_019045.4(WDR44):c.1837C>T (p.Leu613Phe) http://identifiers.org/clinvar/100874 ^@ NM_020366.3(RPGRIP1):c.1978G>T (p.Asp660Tyr) http://identifiers.org/clinvar/100875 ^@ NM_022458.3(LMBR1):c.460C>A (p.Leu154Ile) http://identifiers.org/clinvar/100876 ^@ NM_024753.4(TTC21B):c.2240A>G (p.Gln747Arg) http://identifiers.org/clinvar/100877 ^@ NM_024885.3(TAF7L):c.213C>T (p.Ala71=) http://identifiers.org/clinvar/100878 ^@ NM_025114.3(CEP290):c.1104C>T (p.Thr368=) http://identifiers.org/clinvar/100879 ^@ NM_031892.2(SH3KBP1):c.1258A>G (p.Arg420Gly) http://identifiers.org/clinvar/100880 ^@ NM_031935.2(HMCN1):c.4673C>A (p.Ser1558Ter) http://identifiers.org/clinvar/100881 ^@ NM_031935.2(HMCN1):c.6295C>T (p.Arg2099Ter) http://identifiers.org/clinvar/100882 ^@ NM_032632.4(PAPOLA):c.1464A>G (p.Val488=) http://identifiers.org/clinvar/100883 ^@ NM_032866.4(CGNL1):c.2322T>C (p.His774=) http://identifiers.org/clinvar/100884 ^@ NM_033028.4(BBS4):c.1316C>T (p.Pro439Leu) http://identifiers.org/clinvar/100885 ^@ NM_033033.3(KRT82):c.630G>C (p.Glu210Asp) http://identifiers.org/clinvar/100886 ^@ NM_033223.4(GABRG3):c.336A>G (p.Thr112=) http://identifiers.org/clinvar/100887 ^@ NM_052859.3(RFT1):c.1102G>A (p.Gly368Ser) http://identifiers.org/clinvar/100888 ^@ NM_080632.2(UPF3B):c.772G>C (p.Glu258Gln) http://identifiers.org/clinvar/100889 ^@ NM_144773.3(PROKR2):c.742C>T (p.Arg248Trp) http://identifiers.org/clinvar/100890 ^@ NM_145861.2(EDARADD):c.587G>A (p.Arg196His) http://identifiers.org/clinvar/100891 ^@ NM_152281.2(GORAB):c.1029G>C (p.Val343=) http://identifiers.org/clinvar/100892 ^@ NM_173495.2(PTCHD1):c.1230C>A (p.Ile410=) http://identifiers.org/clinvar/100893 ^@ NM_176824.2(BBS7):c.1135T>G (p.Phe379Val) http://identifiers.org/clinvar/100894 ^@ NM_198253.2(TERT):c.2354C>A (p.Pro785Gln) http://identifiers.org/clinvar/100895 ^@ NM_198270.3(NHS):c.1048G>T (p.Val350Phe) http://identifiers.org/clinvar/100896 ^@ NM_199355.3(ADAMTS18):c.1453T>A (p.Phe485Ile) http://identifiers.org/clinvar/100897 ^@ NM_207197.2(ADAM15):c.2307C>T (p.Pro769=) http://identifiers.org/clinvar/100898 ^@ NM_213647.2(FGFR4):c.1684C>T (p.Leu562=) http://identifiers.org/clinvar/100899 ^@ NM_213656.3(KRT39):c.1461A>C (p.Arg487Ser) http://identifiers.org/clinvar/100900 ^@ NM_194442.2(LBR):c.1639A>G (p.Asn547Asp) http://identifiers.org/clinvar/100901 ^@ NM_194442.2(LBR):c.1748G>A (p.Arg583Gln) http://identifiers.org/clinvar/100902 ^@ NM_194442.2(LBR):c.32_35delTGGT (p.Val11Glufs) http://identifiers.org/clinvar/100903 ^@ NM_194442.2(LBR):c.1402delT (p.Tyr468Thrfs) http://identifiers.org/clinvar/100904 ^@ NM_012229.4(NT5C2):c.85C>T (p.Arg29Ter) http://identifiers.org/clinvar/100905 ^@ NM_012229.4(NT5C2):c.1225delA (p.Ser409Valfs) http://identifiers.org/clinvar/100906 ^@ NM_012229.4(NT5C2):c.989-1G>T http://identifiers.org/clinvar/100907 ^@ NM_012229.4(NT5C2):c.445A>T (p.Arg149Ter) http://identifiers.org/clinvar/100908 ^@ NM_012229.4(NT5C2):c.175+1G>A http://identifiers.org/clinvar/100909 ^@ NM_001007565.2(TFG):c.316C>T (p.Arg106Cys) http://identifiers.org/clinvar/100921 ^@ NM_000488.3(SERPINC1):c.-11G>A http://identifiers.org/clinvar/100922 ^@ NM_000488.3(SERPINC1):c.-35C>T http://identifiers.org/clinvar/100923 ^@ NM_000488.3(SERPINC1):c.1016G>A (p.Trp339Ter) http://identifiers.org/clinvar/100924 ^@ NM_000488.3(SERPINC1):c.1033_1035delGAG (p.Glu345del) http://identifiers.org/clinvar/100925 ^@ NM_000488.3(SERPINC1):c.1154-7C>A http://identifiers.org/clinvar/100926 ^@ NM_000488.3(SERPINC1):c.116_123delTCTGCACA (p.Ile39Serfs) http://identifiers.org/clinvar/100927 ^@ NM_000488.3(SERPINC1):c.1213C>A (p.Leu405Ile) http://identifiers.org/clinvar/100928 ^@ NM_000488.3(SERPINC1):c.409-24A>C http://identifiers.org/clinvar/100929 ^@ NM_000488.3(SERPINC1):c.42-12G>A http://identifiers.org/clinvar/100930 ^@ NM_000488.3(SERPINC1):c.458T>A (p.Phe153Tyr) http://identifiers.org/clinvar/100931 ^@ NM_000488.3(SERPINC1):c.486_487delCT (p.Tyr163Serfs) http://identifiers.org/clinvar/100932 ^@ NM_000488.3(SERPINC1):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/100933 ^@ NM_000488.3(SERPINC1):c.506C>T (p.Ser169Phe) http://identifiers.org/clinvar/100934 ^@ NM_000488.3(SERPINC1):c.536T>A (p.Phe179Tyr) http://identifiers.org/clinvar/100935 ^@ NM_000488.3(SERPINC1):c.598G>C (p.Ala200Pro) http://identifiers.org/clinvar/100936 ^@ NM_000488.3(SERPINC1):c.624+11G>A http://identifiers.org/clinvar/100937 ^@ NM_000488.3(SERPINC1):c.641C>A (p.Ser214Tyr) http://identifiers.org/clinvar/100938 ^@ NM_000488.3(SERPINC1):c.849_853dupGATGT (p.Tyr285Terfs) http://identifiers.org/clinvar/100939 ^@ NM_014588.5(VSX1):c.432C>G (p.Asp144Glu) http://identifiers.org/clinvar/100940 ^@ NM_014588.5(VSX1):c.546A>G (p.Ala182=) http://identifiers.org/clinvar/101034 ^@ NM_006767.3(LZTR1):c.264-13G>A http://identifiers.org/clinvar/101035 ^@ NM_006767.3(LZTR1):c.365C>T (p.Ser122Leu) http://identifiers.org/clinvar/101036 ^@ NM_006767.3(LZTR1):c.2062C>T (p.Arg688Cys) http://identifiers.org/clinvar/101037 ^@ NM_006767.3(LZTR1):c.2348_2351delCGCA (p.Thr783Argfs) http://identifiers.org/clinvar/101038 ^@ NM_006767.3(LZTR1):c.1397G>A (p.Arg466Gln) http://identifiers.org/clinvar/101039 ^@ NM_006702.4(PNPLA6):c.3029C>T (p.Thr1010Ile) http://identifiers.org/clinvar/101040 ^@ NM_001166111.1(PNPLA6):c.2212-1G>C http://identifiers.org/clinvar/101041 ^@ NM_006702.4(PNPLA6):c.3184G>A (p.Val1062Met) http://identifiers.org/clinvar/101042 ^@ NM_006702.4(PNPLA6):c.3053T>C (p.Phe1018Ser) http://identifiers.org/clinvar/101043 ^@ NM_001166111.1(PNPLA6):c.787G>A (p.Val263Ile) http://identifiers.org/clinvar/101044 ^@ NM_006702.4(PNPLA6):c.2375G>A (p.Gly792Glu) http://identifiers.org/clinvar/101045 ^@ NM_006077.3(MICU1):c.1078-1G>C http://identifiers.org/clinvar/101046 ^@ NM_006077.3(MICU1):c.741+1G>A http://identifiers.org/clinvar/101047 ^@ NM_176787.4(PIGN):c.808T>C (p.Ser270Pro) http://identifiers.org/clinvar/101048 ^@ NM_176787.4(PIGN):c.963G>A (p.Gln321=) http://identifiers.org/clinvar/101049 ^@ NC_000009.12:g.(34644530_34645704)_(34650749_34653250)del http://identifiers.org/clinvar/101050 ^@ NM_000435.2(NOTCH3):c.451C>G (p.Gln151Glu) http://identifiers.org/clinvar/101052 ^@ NM_001165899.1(PDE4D):c.494T>G (p.Phe165Cys) http://identifiers.org/clinvar/101053 ^@ NM_001165899.1(PDE4D):c.1850T>C (p.Ile617Thr) http://identifiers.org/clinvar/101054 ^@ DCXR, 1-BP DEL, 583C http://identifiers.org/clinvar/101055 ^@ NM_016286.3(DCXR):c.52+1G>A http://identifiers.org/clinvar/101057 ^@ NM_005017.3(PCYT1A):c.296C>T (p.Ala99Val) http://identifiers.org/clinvar/101058 ^@ NM_005017.3(PCYT1A):c.448C>G (p.Pro150Ala) http://identifiers.org/clinvar/101059 ^@ NM_005017.3(PCYT1A):c.295G>A (p.Ala99Thr) http://identifiers.org/clinvar/101060 ^@ NM_005017.3(PCYT1A):c.847C>T (p.Arg283Ter) http://identifiers.org/clinvar/101061 ^@ NM_005017.3(PCYT1A):c.990delC (p.Ser331Profs) http://identifiers.org/clinvar/101062 ^@ NM_005017.3(PCYT1A):c.669G>C (p.Arg223Ser) http://identifiers.org/clinvar/101063 ^@ NM_005017.3(PCYT1A):c.385G>A (p.Glu129Lys) http://identifiers.org/clinvar/101064 ^@ NM_005017.3(PCYT1A):c.571T>C (p.Phe191Leu) http://identifiers.org/clinvar/101065 ^@ NM_005017.3(PCYT1A):c.968dupG (p.Ser323Argfs) http://identifiers.org/clinvar/101066 ^@ NM_006612.5(KIF1C):c.2191C>T (p.Arg731Ter) http://identifiers.org/clinvar/101067 ^@ NM_006612.5(KIF1C):c.505C>T (p.Arg169Trp) http://identifiers.org/clinvar/101068 ^@ NM_006612.5(KIF1C):c.183G>A (p.Ser61=) http://identifiers.org/clinvar/101069 ^@ NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del http://identifiers.org/clinvar/101070 ^@ NM_018076.4(ARMC4):c.1972G>T (p.Glu658Ter) http://identifiers.org/clinvar/101075 ^@ NM_001257360.1(AMPD2):c.319delT (p.Cys107Alafs) http://identifiers.org/clinvar/101076 ^@ ENTPD1, GLY217ARG http://identifiers.org/clinvar/101077 ^@ NM_001098175.1(ENTPD1):c.541G>T (p.Glu181Ter) http://identifiers.org/clinvar/101078 ^@ NM_001128610.2(USP8):c.928C>A (p.Gln310Lys) http://identifiers.org/clinvar/101079 ^@ NM_015161.2(ARL6IP1):c.577_580delAAAC (p.Lys193Phefs) http://identifiers.org/clinvar/101080 ^@ ARSI, 1-BP INS, 1641A http://identifiers.org/clinvar/101081 ^@ NM_024989.3(PGAP1):c.1952+1G>T http://identifiers.org/clinvar/101082 ^@ WDR48, 3-BP DEL, 1879AAG http://identifiers.org/clinvar/101083 ^@ NM_015214.2(DDHD2):c.1057+5C>G http://identifiers.org/clinvar/101084 ^@ NM_016107.4(ZFR):c.956T>C (p.Leu319Pro) http://identifiers.org/clinvar/101101 ^@ NM_000090.3(COL3A1):c.2977G>T (p.Gly993Cys) http://identifiers.org/clinvar/101102 ^@ NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp) http://identifiers.org/clinvar/101103 ^@ NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp) http://identifiers.org/clinvar/101104 ^@ NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg) http://identifiers.org/clinvar/101105 ^@ NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp) http://identifiers.org/clinvar/101106 ^@ NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp) http://identifiers.org/clinvar/101107 ^@ NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu) http://identifiers.org/clinvar/101108 ^@ NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del) http://identifiers.org/clinvar/101109 ^@ NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del) http://identifiers.org/clinvar/101110 ^@ NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28) http://identifiers.org/clinvar/101111 ^@ NM_000090.3(COL3A1):c.951_951+14del (p.Gly300_Ala317del) http://identifiers.org/clinvar/101112 ^@ NM_000090.3(COL3A1):c.951+2T>A (p.Gly300_Ala317del) http://identifiers.org/clinvar/101113 ^@ NM_000090.3(COL3A1):c.800G>T (p.Gly267Val) http://identifiers.org/clinvar/101114 ^@ NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val) http://identifiers.org/clinvar/101115 ^@ NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del) http://identifiers.org/clinvar/101116 ^@ NM_000090.3(COL3A1):c.1744G>C (p.Gly582Arg) http://identifiers.org/clinvar/101117 ^@ NM_000090.3(COL3A1):c.1189_1194+23del (p.Gly384_Met398del) http://identifiers.org/clinvar/101118 ^@ NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) http://identifiers.org/clinvar/101119 ^@ NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp) http://identifiers.org/clinvar/101120 ^@ NM_000090.3(COL3A1):c.1987G>C (p.Gly663Arg) http://identifiers.org/clinvar/101121 ^@ NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu) http://identifiers.org/clinvar/101122 ^@ NM_000090.3(COL3A1):c.1915G>C (p.Gly639Arg) http://identifiers.org/clinvar/101123 ^@ NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg) http://identifiers.org/clinvar/101124 ^@ NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg) http://identifiers.org/clinvar/101125 ^@ NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) http://identifiers.org/clinvar/101126 ^@ NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg) http://identifiers.org/clinvar/101127 ^@ NM_000090.3(COL3A1):c.899G>T (p.Gly300Val) http://identifiers.org/clinvar/101128 ^@ NM_000090.3(COL3A1):c.656G>C (p.Gly219Ala) http://identifiers.org/clinvar/101129 ^@ NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala) http://identifiers.org/clinvar/101131 ^@ NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg) http://identifiers.org/clinvar/101132 ^@ NM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+) http://identifiers.org/clinvar/101133 ^@ NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val) http://identifiers.org/clinvar/101134 ^@ NM_000090.3(COL3A1):c.1455+133_1978-178del (p.Gly486_Pro659del) http://identifiers.org/clinvar/101135 ^@ NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser) http://identifiers.org/clinvar/101136 ^@ NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg) http://identifiers.org/clinvar/101137 ^@ NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+) http://identifiers.org/clinvar/101138 ^@ NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg) http://identifiers.org/clinvar/101139 ^@ NM_000090.3(COL3A1):c.2771G>A (p.Gly924Asp) http://identifiers.org/clinvar/101140 ^@ NM_000090.3(COL3A1):c.951+2T>C (p.Gly300_Ala317del) http://identifiers.org/clinvar/101141 ^@ NM_000090.3(COL3A1):c.555delT (p.Gly186Valfs) http://identifiers.org/clinvar/101142 ^@ NM_000090.3(COL3A1):c.951+3G>T (p.Gly300_Ala317del) http://identifiers.org/clinvar/101143 ^@ NM_000090.3(COL3A1):c.899G>A (p.Gly300Asp) http://identifiers.org/clinvar/101144 ^@ NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) http://identifiers.org/clinvar/101145 ^@ NM_000090.3(COL3A1):c.1988G>A (p.Gly663Asp) http://identifiers.org/clinvar/101146 ^@ NM_000090.3(COL3A1):c.766delA (p.Ile256Tyrfs) http://identifiers.org/clinvar/101147 ^@ NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg) http://identifiers.org/clinvar/101148 ^@ NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp) http://identifiers.org/clinvar/101149 ^@ NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del) http://identifiers.org/clinvar/101150 ^@ NM_000090.3(COL3A1):c.2069G>T (p.Gly690Val) http://identifiers.org/clinvar/101151 ^@ NM_000090.3(COL3A1):c.1194+1G>C (p.Gly384_Met398del) http://identifiers.org/clinvar/101152 ^@ NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu) http://identifiers.org/clinvar/140778 ^@ NM_000251.2(MSH2):c.-68-72G>T http://identifiers.org/clinvar/140779 ^@ NM_000179.2(MSH6):c.107C>T (p.Ala36Val) http://identifiers.org/clinvar/140780 ^@ NM_000179.2(MSH6):c.749T>C (p.Val250Ala) http://identifiers.org/clinvar/140781 ^@ NM_004360.4(CDH1):c.2064_2065delTG (p.Cys688Terfs) http://identifiers.org/clinvar/140782 ^@ NM_000546.5(TP53):c.21T>A (p.Asp7Glu) http://identifiers.org/clinvar/140783 ^@ NM_000314.6(PTEN):c.-1170C>A http://identifiers.org/clinvar/140784 ^@ NM_004360.4(CDH1):c.48+5C>G http://identifiers.org/clinvar/140785 ^@ NM_000251.2(MSH2):c.2576_2584delAATCGCAAG (p.Glu859_Gln861del) http://identifiers.org/clinvar/140786 ^@ NM_000546.5(TP53):c.319T>C (p.Tyr107His) http://identifiers.org/clinvar/140787 ^@ NM_005732.3(RAD50):c.2923-5dupT http://identifiers.org/clinvar/140788 ^@ NM_007194.3(CHEK2):c.444+3A>G http://identifiers.org/clinvar/140789 ^@ NM_024675.3(PALB2):c.2890G>A (p.Gly964Arg) http://identifiers.org/clinvar/140790 ^@ NM_000051.3(ATM):c.5948G>A (p.Ser1983Asn) http://identifiers.org/clinvar/140791 ^@ NM_001128425.1(MUTYH):c.1250G>A (p.Arg417His) http://identifiers.org/clinvar/140792 ^@ NM_000535.6(PMS2):c.874A>T (p.Ile292Phe) http://identifiers.org/clinvar/140794 ^@ NM_007194.3(CHEK2):c.684T>C (p.Ser228=) http://identifiers.org/clinvar/140795 ^@ NM_000465.3(BARD1):c.1075_1095del21 (p.Leu359_Pro365del) http://identifiers.org/clinvar/140796 ^@ NM_001128425.1(MUTYH):c.37-14T>G http://identifiers.org/clinvar/140797 ^@ NM_000249.3(MLH1):c.1039-6dupA http://identifiers.org/clinvar/140798 ^@ NM_004360.4(CDH1):c.1475G>C (p.Arg492Thr) http://identifiers.org/clinvar/140799 ^@ NM_058216.2(RAD51C):c.955C>T (p.Arg319Ter) http://identifiers.org/clinvar/140800 ^@ NM_000038.5(APC):c.7468G>A (p.Asp2490Asn) http://identifiers.org/clinvar/140801 ^@ NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) http://identifiers.org/clinvar/140802 ^@ NM_000535.6(PMS2):c.1622A>G (p.Lys541Arg) http://identifiers.org/clinvar/140803 ^@ NM_004360.4(CDH1):c.521dupA (p.Asn174Lysfs) http://identifiers.org/clinvar/140804 ^@ NM_000179.2(MSH6):c.190G>A (p.Ala64Thr) http://identifiers.org/clinvar/140805 ^@ NM_002485.4(NBN):c.633T>A (p.Asp211Glu) http://identifiers.org/clinvar/140806 ^@ NM_004360.4(CDH1):c.1937-13T>C http://identifiers.org/clinvar/140807 ^@ NM_000314.6(PTEN):c.79+20C>G http://identifiers.org/clinvar/140808 ^@ NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) http://identifiers.org/clinvar/140809 ^@ NM_005591.3(MRE11):c.315-4delT http://identifiers.org/clinvar/140810 ^@ NM_000251.2(MSH2):c.775C>T (p.Pro259Ser) http://identifiers.org/clinvar/140811 ^@ NM_001128425.1(MUTYH):c.393G>A (p.Trp131Ter) http://identifiers.org/clinvar/140812 ^@ NM_007194.3(CHEK2):c.1542+11T>A http://identifiers.org/clinvar/140813 ^@ NM_000051.3(ATM):c.2418G>T (p.Leu806Phe) http://identifiers.org/clinvar/140814 ^@ NM_001128425.1(MUTYH):c.481G>C (p.Asp161His) http://identifiers.org/clinvar/140815 ^@ NM_000465.3(BARD1):c.27_41delCCGGCAGCCGAGGAT (p.Gln11_Arg15del) http://identifiers.org/clinvar/140816 ^@ NM_001128425.1(MUTYH):c.1303C>T (p.His435Tyr) http://identifiers.org/clinvar/140817 ^@ NM_032043.2(BRIP1):c.2753C>T (p.Thr918Ile) http://identifiers.org/clinvar/140818 ^@ NM_000051.3(ATM):c.6997dupA (p.Thr2333Asnfs) http://identifiers.org/clinvar/140819 ^@ NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) http://identifiers.org/clinvar/140820 ^@ NM_004360.4(CDH1):c.2519C>T (p.Ser840Phe) http://identifiers.org/clinvar/140821 ^@ NM_000546.5(TP53):c.844C>G (p.Arg282Gly) http://identifiers.org/clinvar/140822 ^@ NM_000179.2(MSH6):c.4068_4069insGATT (p.Ile1357Aspfs) http://identifiers.org/clinvar/140823 ^@ NM_000051.3(ATM):c.6047A>G (p.Asp2016Gly) http://identifiers.org/clinvar/140824 ^@ NM_000455.4(STK11):c.376T>C (p.Tyr126His) http://identifiers.org/clinvar/140825 ^@ NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) http://identifiers.org/clinvar/140826 ^@ NM_000051.3(ATM):c.2108A>G (p.Asn703Ser) http://identifiers.org/clinvar/140827 ^@ NM_001128425.1(MUTYH):c.289C>T (p.Arg97Ter) http://identifiers.org/clinvar/140828 ^@ NM_002485.4(NBN):c.306delT (p.Phe102Leufs) http://identifiers.org/clinvar/140829 ^@ NM_000179.2(MSH6):c.2591G>A (p.Gly864Glu) http://identifiers.org/clinvar/140830 ^@ NM_001128425.1(MUTYH):c.650G>A (p.Arg217His) http://identifiers.org/clinvar/140831 ^@ NM_000535.6(PMS2):c.-7T>C http://identifiers.org/clinvar/140832 ^@ NM_000051.3(ATM):c.133C>T (p.Arg45Trp) http://identifiers.org/clinvar/140833 ^@ NM_000546.5(TP53):c.250G>A (p.Ala84Thr) http://identifiers.org/clinvar/140834 ^@ NM_024675.3(PALB2):c.3290C>G (p.Pro1097Arg) http://identifiers.org/clinvar/140835 ^@ NM_007194.3(CHEK2):c.661A>G (p.Ile221Val) http://identifiers.org/clinvar/140836 ^@ NM_000179.2(MSH6):c.2281A>G (p.Arg761Gly) http://identifiers.org/clinvar/140837 ^@ NM_058216.2(RAD51C):c.80T>C (p.Leu27Pro) http://identifiers.org/clinvar/140838 ^@ NM_000249.3(MLH1):c.2060G>A (p.Arg687Gln) http://identifiers.org/clinvar/140839 ^@ NM_000038.5(APC):c.4732T>G (p.Cys1578Gly) http://identifiers.org/clinvar/140840 ^@ NM_004360.4(CDH1):c.2336G>A (p.Arg779Gln) http://identifiers.org/clinvar/140841 ^@ NM_004360.4(CDH1):c.2474C>T (p.Pro825Leu) http://identifiers.org/clinvar/140842 ^@ NM_000465.3(BARD1):c.1013C>A (p.Thr338Asn) http://identifiers.org/clinvar/140843 ^@ NM_000251.2(MSH2):c.1462T>G (p.Leu488Val) http://identifiers.org/clinvar/140844 ^@ NM_007294.3(BRCA1):c.1705A>G (p.Asn569Asp) http://identifiers.org/clinvar/140845 ^@ NM_000465.3(BARD1):c.2076T>G (p.Ile692Met) http://identifiers.org/clinvar/140846 ^@ NM_005591.3(MRE11):c.1032T>G (p.Leu344=) http://identifiers.org/clinvar/140847 ^@ NM_000535.6(PMS2):c.2095G>C (p.Asp699His) http://identifiers.org/clinvar/140848 ^@ NM_000179.2(MSH6):c.2776C>T (p.Leu926Phe) http://identifiers.org/clinvar/140849 ^@ NM_058216.2(RAD51C):c.577C>T (p.Arg193Ter) http://identifiers.org/clinvar/140850 ^@ NM_024675.3(PALB2):c.1190C>T (p.Thr397Ile) http://identifiers.org/clinvar/140851 ^@ NM_000051.3(ATM):c.4666T>C (p.Tyr1556His) http://identifiers.org/clinvar/140852 ^@ NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) http://identifiers.org/clinvar/140853 ^@ NM_004360.4(CDH1):c.546A>C (p.Lys182Asn) http://identifiers.org/clinvar/140854 ^@ NM_000038.5(APC):c.6977G>A (p.Arg2326Gln) http://identifiers.org/clinvar/140855 ^@ NM_005732.3(RAD50):c.3440T>C (p.Ile1147Thr) http://identifiers.org/clinvar/140856 ^@ NM_000051.3(ATM):c.7213A>G (p.Met2405Val) http://identifiers.org/clinvar/140857 ^@ NM_000051.3(ATM):c.7927+6dupT http://identifiers.org/clinvar/140858 ^@ NM_032043.2(BRIP1):c.1105T>C (p.Tyr369His) http://identifiers.org/clinvar/140859 ^@ NM_002485.4(NBN):c.1125-3C>T http://identifiers.org/clinvar/140861 ^@ NM_032043.2(BRIP1):c.3025G>A (p.Gly1009Arg) http://identifiers.org/clinvar/140862 ^@ NM_004360.4(CDH1):c.160A>G (p.Arg54Gly) http://identifiers.org/clinvar/140863 ^@ NM_000038.5(APC):c.5934_5937delAAAC (p.Asn1979Thrfs) http://identifiers.org/clinvar/140864 ^@ NM_000251.2(MSH2):c.1347G>C (p.Lys449Asn) http://identifiers.org/clinvar/140866 ^@ NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) http://identifiers.org/clinvar/140867 ^@ NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) http://identifiers.org/clinvar/140868 ^@ NM_004329.2(BMPR1A):c.1216C>T (p.Arg406Cys) http://identifiers.org/clinvar/140869 ^@ NM_002485.4(NBN):c.721G>A (p.Ala241Thr) http://identifiers.org/clinvar/140870 ^@ NM_000465.3(BARD1):c.1481A>G (p.Asn494Ser) http://identifiers.org/clinvar/140871 ^@ NM_004360.4(CDH1):c.2396C>G (p.Pro799Arg) http://identifiers.org/clinvar/140872 ^@ NM_004360.4(CDH1):c.224T>G (p.Phe75Cys) http://identifiers.org/clinvar/140873 ^@ NM_000059.3(BRCA2):c.7331A>T (p.Asp2444Val) http://identifiers.org/clinvar/140874 ^@ NM_001128425.1(MUTYH):c.1186+1G>A http://identifiers.org/clinvar/140875 ^@ NM_000465.3(BARD1):c.773T>C (p.Ile258Thr) http://identifiers.org/clinvar/140876 ^@ NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter) http://identifiers.org/clinvar/140877 ^@ NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) http://identifiers.org/clinvar/140878 ^@ NM_004360.4(CDH1):c.344C>T (p.Thr115Met) http://identifiers.org/clinvar/140879 ^@ NM_000051.3(ATM):c.2149C>T (p.Arg717Trp) http://identifiers.org/clinvar/140880 ^@ NM_000535.6(PMS2):c.904-2A>G http://identifiers.org/clinvar/140881 ^@ NM_007194.3(CHEK2):c.1561C>T (p.Arg521Trp) http://identifiers.org/clinvar/140883 ^@ NM_004329.2(BMPR1A):c.695A>G (p.Lys232Arg) http://identifiers.org/clinvar/140884 ^@ NM_000249.3(MLH1):c.2131T>C (p.Ser711Pro) http://identifiers.org/clinvar/140885 ^@ NM_005591.3(MRE11):c.244T>C (p.Tyr82His) http://identifiers.org/clinvar/140886 ^@ NM_000051.3(ATM):c.8047A>T (p.Ile2683Leu) http://identifiers.org/clinvar/140887 ^@ NM_005732.3(RAD50):c.194C>T (p.Thr65Ile) http://identifiers.org/clinvar/140888 ^@ NM_000251.2(MSH2):c.1429A>C (p.Asn477His) http://identifiers.org/clinvar/140889 ^@ NM_000051.3(ATM):c.1402_1403delAA (p.Lys468Glufs) http://identifiers.org/clinvar/140890 ^@ NM_000038.5(APC):c.4055T>C (p.Val1352Ala) http://identifiers.org/clinvar/140891 ^@ NM_000038.5(APC):c.2845A>G (p.Met949Val) http://identifiers.org/clinvar/140892 ^@ NM_000179.2(MSH6):c.2482G>A (p.Val828Ile) http://identifiers.org/clinvar/140893 ^@ NM_000038.5(APC):c.5257G>C (p.Ala1753Pro) http://identifiers.org/clinvar/140894 ^@ NM_024675.3(PALB2):c.1697G>C (p.Arg566Pro) http://identifiers.org/clinvar/140895 ^@ NM_004360.4(CDH1):c.2254G>A (p.Val752Ile) http://identifiers.org/clinvar/140896 ^@ NM_000051.3(ATM):c.2492A>T (p.Asp831Val) http://identifiers.org/clinvar/140897 ^@ NM_000051.3(ATM):c.8565_8566delTGinsAA (p.Ser2855_Val2856delinsArgIle) http://identifiers.org/clinvar/140898 ^@ NM_000314.6(PTEN):c.772_773delTT (p.Phe258Profs) http://identifiers.org/clinvar/140899 ^@ NM_005732.3(RAD50):c.399_400delTG (p.Ala134Argfs) http://identifiers.org/clinvar/140901 ^@ NM_000314.6(PTEN):c.-1033_-1029dupGCCCT http://identifiers.org/clinvar/140902 ^@ NM_000535.6(PMS2):c.922G>A (p.Glu308Lys) http://identifiers.org/clinvar/140903 ^@ NM_005359.5(SMAD4):c.1345C>T (p.Gln449Ter) http://identifiers.org/clinvar/140904 ^@ NM_000038.5(APC):c.1895T>C (p.Ile632Thr) http://identifiers.org/clinvar/140905 ^@ NM_000051.3(ATM):c.7358G>A (p.Arg2453His) http://identifiers.org/clinvar/140907 ^@ NM_000051.3(ATM):c.8473C>T (p.Gln2825Ter) http://identifiers.org/clinvar/140908 ^@ NM_005732.3(RAD50):c.610A>G (p.Lys204Glu) http://identifiers.org/clinvar/140909 ^@ NM_000038.5(APC):c.6818G>T (p.Gly2273Val) http://identifiers.org/clinvar/140910 ^@ NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) http://identifiers.org/clinvar/140911 ^@ NM_005732.3(RAD50):c.3037-3T>C http://identifiers.org/clinvar/140912 ^@ NM_000051.3(ATM):c.1624T>G (p.Leu542Val) http://identifiers.org/clinvar/140913 ^@ NM_058216.2(RAD51C):c.90G>A (p.Ala30=) http://identifiers.org/clinvar/140914 ^@ NM_007194.3(CHEK2):c.*5C>T http://identifiers.org/clinvar/140915 ^@ NM_000051.3(ATM):c.749G>A (p.Arg250Gln) http://identifiers.org/clinvar/140916 ^@ NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) http://identifiers.org/clinvar/140918 ^@ NM_002485.4(NBN):c.37+5G>A http://identifiers.org/clinvar/140919 ^@ NM_005732.3(RAD50):c.3857T>C (p.Phe1286Ser) http://identifiers.org/clinvar/140920 ^@ NM_000051.3(ATM):c.7882A>G (p.Ile2628Val) http://identifiers.org/clinvar/140921 ^@ NM_000546.5(TP53):c.328C>A (p.Arg110Ser) http://identifiers.org/clinvar/140922 ^@ NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) http://identifiers.org/clinvar/140923 ^@ NM_000251.2(MSH2):c.1341C>G (p.Phe447Leu) http://identifiers.org/clinvar/140924 ^@ NM_001128425.1(MUTYH):c.167G>T (p.Gly56Val) http://identifiers.org/clinvar/140925 ^@ NM_000051.3(ATM):c.5750G>C (p.Arg1917Thr) http://identifiers.org/clinvar/140926 ^@ NM_000051.3(ATM):c.496+4T>C http://identifiers.org/clinvar/140927 ^@ NM_000465.3(BARD1):c.1915T>C (p.Cys639Arg) http://identifiers.org/clinvar/140928 ^@ NM_007194.3(CHEK2):c.451G>T (p.Gly151Cys) http://identifiers.org/clinvar/140929 ^@ NM_005591.3(MRE11):c.1448G>A (p.Arg483Gln) http://identifiers.org/clinvar/140930 ^@ NM_005732.3(RAD50):c.3790C>T (p.Leu1264Phe) http://identifiers.org/clinvar/140931 ^@ NM_005732.3(RAD50):c.3836G>A (p.Arg1279His) http://identifiers.org/clinvar/140932 ^@ NM_007194.3(CHEK2):c.755G>A (p.Ser252Asn) http://identifiers.org/clinvar/140933 ^@ NM_007194.3(CHEK2):c.727T>C (p.Cys243Arg) http://identifiers.org/clinvar/140934 ^@ NM_002485.4(NBN):c.1456T>C (p.Ser486Pro) http://identifiers.org/clinvar/140936 ^@ NM_005591.3(MRE11):c.845+2T>A http://identifiers.org/clinvar/140937 ^@ NM_000535.6(PMS2):c.1288A>G (p.Thr430Ala) http://identifiers.org/clinvar/140938 ^@ NM_007194.3(CHEK2):c.1451C>T (p.Pro484Leu) http://identifiers.org/clinvar/140939 ^@ NM_005732.3(RAD50):c.1336A>G (p.Lys446Glu) http://identifiers.org/clinvar/140940 ^@ NM_058216.2(RAD51C):c.134A>G (p.Glu45Gly) http://identifiers.org/clinvar/140941 ^@ NM_005591.3(MRE11):c.1516G>T (p.Glu506Ter) http://identifiers.org/clinvar/140942 ^@ NM_001128425.1(MUTYH):c.1486G>A (p.Val496Met) http://identifiers.org/clinvar/140943 ^@ NM_000546.5(TP53):c.642T>G (p.His214Gln) http://identifiers.org/clinvar/140944 ^@ NM_032043.2(BRIP1):c.47A>G (p.Tyr16Cys) http://identifiers.org/clinvar/140945 ^@ NM_032043.2(BRIP1):c.262_264delTGT (p.Cys88del) http://identifiers.org/clinvar/140946 ^@ NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) http://identifiers.org/clinvar/140947 ^@ NM_000179.2(MSH6):c.4061T>C (p.Leu1354Pro) http://identifiers.org/clinvar/140948 ^@ NM_000179.2(MSH6):c.875G>T (p.Ser292Ile) http://identifiers.org/clinvar/140949 ^@ NM_000051.3(ATM):c.5512T>C (p.Cys1838Arg) http://identifiers.org/clinvar/140950 ^@ NM_000051.3(ATM):c.519G>T (p.Arg173Ser) http://identifiers.org/clinvar/140951 ^@ NM_000038.5(APC):c.2413C>G (p.Arg805Gly) http://identifiers.org/clinvar/140952 ^@ NM_000038.5(APC):c.637C>T (p.Arg213Ter) http://identifiers.org/clinvar/140953 ^@ NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter) http://identifiers.org/clinvar/140954 ^@ NM_000038.5(APC):c.8146G>A (p.Val2716Met) http://identifiers.org/clinvar/140955 ^@ NM_000038.5(APC):c.6779G>A (p.Ser2260Asn) http://identifiers.org/clinvar/140956 ^@ NM_000038.5(APC):c.2218G>C (p.Ala740Pro) http://identifiers.org/clinvar/140957 ^@ NM_000535.6(PMS2):c.1067delA (p.Lys356Argfs) http://identifiers.org/clinvar/140958 ^@ NM_000059.3(BRCA2):c.6287C>G (p.Pro2096Arg) http://identifiers.org/clinvar/140959 ^@ NM_007194.3(CHEK2):c.1141A>G (p.Met381Val) http://identifiers.org/clinvar/140960 ^@ NM_000251.2(MSH2):c.894G>C (p.Gln298His) http://identifiers.org/clinvar/140961 ^@ NM_000179.2(MSH6):c.1634_1635delAA (p.Lys545Argfs) http://identifiers.org/clinvar/140962 ^@ NM_000059.3(BRCA2):c.1070A>C (p.Glu357Ala) http://identifiers.org/clinvar/140963 ^@ NM_000038.5(APC):c.5656G>A (p.Glu1886Lys) http://identifiers.org/clinvar/140964 ^@ NM_004360.4(CDH1):c.2117A>G (p.Gln706Arg) http://identifiers.org/clinvar/140965 ^@ NM_007194.3(CHEK2):c.73G>A (p.Val25Ile) http://identifiers.org/clinvar/140966 ^@ NM_000059.3(BRCA2):c.599C>T (p.Thr200Ile) http://identifiers.org/clinvar/140967 ^@ NM_000059.3(BRCA2):c.9058T>C (p.Ser3020Pro) http://identifiers.org/clinvar/140968 ^@ NM_004360.4(CDH1):c.233G>A (p.Gly78Asp) http://identifiers.org/clinvar/140969 ^@ NM_000038.5(APC):c.1914A>G (p.Ile638Met) http://identifiers.org/clinvar/140970 ^@ NM_000059.3(BRCA2):c.4109G>A (p.Gly1370Asp) http://identifiers.org/clinvar/140971 ^@ NM_004329.2(BMPR1A):c.1474-2A>G http://identifiers.org/clinvar/140972 ^@ NM_000179.2(MSH6):c.1407T>A (p.Tyr469Ter) http://identifiers.org/clinvar/140973 ^@ NM_005732.3(RAD50):c.3593G>A (p.Arg1198Gln) http://identifiers.org/clinvar/140974 ^@ NM_000465.3(BARD1):c.160A>G (p.Thr54Ala) http://identifiers.org/clinvar/140975 ^@ NM_000059.3(BRCA2):c.8168A>T (p.Asp2723Val) http://identifiers.org/clinvar/140976 ^@ NM_005732.3(RAD50):c.129+5G>A http://identifiers.org/clinvar/140978 ^@ NM_024675.3(PALB2):c.3507_3508delTC (p.His1170Phefs) http://identifiers.org/clinvar/140979 ^@ NM_005732.3(RAD50):c.3716G>A (p.Arg1239Gln) http://identifiers.org/clinvar/140980 ^@ NM_002485.4(NBN):c.227C>A (p.Thr76Asn) http://identifiers.org/clinvar/140981 ^@ NM_000051.3(ATM):c.9002G>C (p.Ser3001Thr) http://identifiers.org/clinvar/140982 ^@ NM_000051.3(ATM):c.8260A>G (p.Thr2754Ala) http://identifiers.org/clinvar/140983 ^@ NM_024675.3(PALB2):c.2705A>T (p.Asp902Val) http://identifiers.org/clinvar/140984 ^@ NM_032043.2(BRIP1):c.394dupA (p.Thr132Asnfs) http://identifiers.org/clinvar/140985 ^@ NM_032043.2(BRIP1):c.2948T>A (p.Ile983Asn) http://identifiers.org/clinvar/140986 ^@ NM_000455.4(STK11):c.1027G>A (p.Asp343Asn) http://identifiers.org/clinvar/140987 ^@ NM_000059.3(BRCA2):c.4567G>A (p.Gly1523Ser) http://identifiers.org/clinvar/140988 ^@ NM_000038.5(APC):c.2308T>C (p.Ser770Pro) http://identifiers.org/clinvar/140989 ^@ NM_000059.3(BRCA2):c.4068G>T (p.Leu1356Phe) http://identifiers.org/clinvar/140990 ^@ NM_007294.3(BRCA1):c.2119G>C (p.Gly707Arg) http://identifiers.org/clinvar/140991 ^@ NM_000059.3(BRCA2):c.837C>G (p.Cys279Trp) http://identifiers.org/clinvar/140992 ^@ NM_000059.3(BRCA2):c.9256_9256+1delGGinsTA http://identifiers.org/clinvar/140993 ^@ NM_007294.3(BRCA1):c.2621delA (p.Asn874Ilefs) http://identifiers.org/clinvar/140994 ^@ NM_000038.5(APC):c.6363_6365dupTGC (p.Ala2122_Cys2123insAla) http://identifiers.org/clinvar/140995 ^@ NM_032043.2(BRIP1):c.823A>G (p.Ile275Val) http://identifiers.org/clinvar/140996 ^@ NM_005732.3(RAD50):c.3882T>G (p.Asp1294Glu) http://identifiers.org/clinvar/140997 ^@ NM_000059.3(BRCA2):c.437T>C (p.Leu146Pro) http://identifiers.org/clinvar/140998 ^@ NM_007294.3(BRCA1):c.485dupT (p.Arg163Glufs) http://identifiers.org/clinvar/140999 ^@ NM_000059.3(BRCA2):c.5773C>G (p.Gln1925Glu) http://identifiers.org/clinvar/141000 ^@ NM_000535.6(PMS2):c.1438G>C (p.Gly480Arg) http://identifiers.org/clinvar/141001 ^@ NM_001042492.2(NF1):c.7006G>A (p.Ala2336Thr) http://identifiers.org/clinvar/141002 ^@ NM_024675.3(PALB2):c.1328A>G (p.Lys443Arg) http://identifiers.org/clinvar/141003 ^@ NM_000059.3(BRCA2):c.175C>A (p.Pro59Thr) http://identifiers.org/clinvar/141004 ^@ NM_000455.4(STK11):c.1190C>T (p.Ala397Val) http://identifiers.org/clinvar/141005 ^@ NM_000465.3(BARD1):c.733C>T (p.Gln245Ter) http://identifiers.org/clinvar/141006 ^@ NM_001042492.2(NF1):c.8479G>T (p.Ala2827Ser) http://identifiers.org/clinvar/141007 ^@ NM_007194.3(CHEK2):c.1567C>T (p.Arg523Cys) http://identifiers.org/clinvar/141008 ^@ NM_000059.3(BRCA2):c.6024G>C (p.Lys2008Asn) http://identifiers.org/clinvar/141009 ^@ NM_000059.3(BRCA2):c.869T>G (p.Val290Gly) http://identifiers.org/clinvar/141010 ^@ NM_004360.4(CDH1):c.1132A>C (p.Thr378Pro) http://identifiers.org/clinvar/141011 ^@ NM_000546.5(TP53):c.766A>G (p.Thr256Ala) http://identifiers.org/clinvar/141012 ^@ NM_000059.3(BRCA2):c.9169T>G (p.Phe3057Val) http://identifiers.org/clinvar/141013 ^@ NM_000059.3(BRCA2):c.6745G>A (p.Ala2249Thr) http://identifiers.org/clinvar/141014 ^@ NM_004360.4(CDH1):c.1568A>G (p.Tyr523Cys) http://identifiers.org/clinvar/141015 ^@ NM_000059.3(BRCA2):c.3351delA (p.Leu1118Terfs) http://identifiers.org/clinvar/141016 ^@ NM_004360.4(CDH1):c.2363C>T (p.Ala788Val) http://identifiers.org/clinvar/141017 ^@ NM_000059.3(BRCA2):c.671A>C (p.Asp224Ala) http://identifiers.org/clinvar/141018 ^@ NM_000455.4(STK11):c.103A>G (p.Ile35Val) http://identifiers.org/clinvar/141019 ^@ NM_002485.4(NBN):c.1115C>G (p.Ala372Gly) http://identifiers.org/clinvar/141020 ^@ NM_005591.3(MRE11):c.1306T>C (p.Tyr436His) http://identifiers.org/clinvar/141021 ^@ NM_000038.5(APC):c.5290C>G (p.Gln1764Glu) http://identifiers.org/clinvar/141022 ^@ NM_004329.2(BMPR1A):c.478A>G (p.Met160Val) http://identifiers.org/clinvar/141023 ^@ NM_005591.3(MRE11):c.1081C>G (p.Pro361Ala) http://identifiers.org/clinvar/141024 ^@ NM_058216.2(RAD51C):c.92G>A (p.Gly31Glu) http://identifiers.org/clinvar/141025 ^@ NM_005591.3(MRE11):c.1960_1979dup20 (p.Lys661Thrfs) http://identifiers.org/clinvar/141026 ^@ NM_000251.2(MSH2):c.-68-250A>T http://identifiers.org/clinvar/141027 ^@ NM_000465.3(BARD1):c.1877A>G (p.Asn626Ser) http://identifiers.org/clinvar/141028 ^@ NM_001128425.1(MUTYH):c.377G>A (p.Arg126Gln) http://identifiers.org/clinvar/141029 ^@ NM_001042492.2(NF1):c.4508A>G (p.Asn1503Ser) http://identifiers.org/clinvar/141030 ^@ NM_005591.3(MRE11):c.19C>T (p.Leu7Phe) http://identifiers.org/clinvar/141031 ^@ NM_000051.3(ATM):c.2338A>T (p.Met780Leu) http://identifiers.org/clinvar/141032 ^@ NM_000251.2(MSH2):c.260C>G (p.Ser87Cys) http://identifiers.org/clinvar/141033 ^@ NM_001042492.2(NF1):c.8151G>A (p.Pro2717=) http://identifiers.org/clinvar/141034 ^@ NM_007294.3(BRCA1):c.2068A>G (p.Lys690Glu) http://identifiers.org/clinvar/141035 ^@ NM_000465.3(BARD1):c.1067A>T (p.Asn356Ile) http://identifiers.org/clinvar/141036 ^@ NM_000051.3(ATM):c.8965C>G (p.Gln2989Glu) http://identifiers.org/clinvar/141037 ^@ NM_000051.3(ATM):c.378delT (p.Asp126Glufs) http://identifiers.org/clinvar/141038 ^@ NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) http://identifiers.org/clinvar/141039 ^@ NM_002485.4(NBN):c.89A>G (p.Asn30Ser) http://identifiers.org/clinvar/141040 ^@ NM_000038.5(APC):c.935dupT (p.Glu313Glyfs) http://identifiers.org/clinvar/141041 ^@ NM_000038.5(APC):c.3412G>C (p.Asp1138His) http://identifiers.org/clinvar/141042 ^@ NM_000251.2(MSH2):c.2556G>C (p.Glu852Asp) http://identifiers.org/clinvar/141043 ^@ NM_000249.3(MLH1):c.790+1G>T http://identifiers.org/clinvar/141044 ^@ NM_000551.3(VHL):c.376G>A (p.Asp126Asn) http://identifiers.org/clinvar/141045 ^@ NM_005732.3(RAD50):c.2165dupA (p.Glu723Glyfs) http://identifiers.org/clinvar/141046 ^@ NM_007194.3(CHEK2):c.1423T>A (p.Phe475Ile) http://identifiers.org/clinvar/141047 ^@ NM_000038.5(APC):c.8383G>A (p.Ala2795Thr) http://identifiers.org/clinvar/141048 ^@ NM_001042492.2(NF1):c.107C>G (p.Thr36Ser) http://identifiers.org/clinvar/141049 ^@ NM_000059.3(BRCA2):c.5593A>G (p.Ile1865Val) http://identifiers.org/clinvar/141050 ^@ NM_000465.3(BARD1):c.2161G>A (p.Ala721Thr) http://identifiers.org/clinvar/141051 ^@ NM_000465.3(BARD1):c.835T>C (p.Ser279Pro) http://identifiers.org/clinvar/141052 ^@ NM_005732.3(RAD50):c.1402G>A (p.Glu468Lys) http://identifiers.org/clinvar/141053 ^@ NM_024675.3(PALB2):c.2712G>A (p.Trp904Ter) http://identifiers.org/clinvar/141054 ^@ NM_000179.2(MSH6):c.2882G>T (p.Arg961Ile) http://identifiers.org/clinvar/141055 ^@ NM_000249.3(MLH1):c.-43C>T http://identifiers.org/clinvar/141056 ^@ NM_000546.5(TP53):c.144C>A (p.Asp48Glu) http://identifiers.org/clinvar/141057 ^@ NM_005591.3(MRE11):c.1718G>A (p.Gly573Glu) http://identifiers.org/clinvar/141058 ^@ NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) http://identifiers.org/clinvar/141059 ^@ NM_032043.2(BRIP1):c.1286A>C (p.Asn429Thr) http://identifiers.org/clinvar/141060 ^@ NM_004329.2(BMPR1A):c.1420G>C (p.Val474Leu) http://identifiers.org/clinvar/141061 ^@ NM_000038.5(APC):c.811A>G (p.Met271Val) http://identifiers.org/clinvar/141062 ^@ NM_000314.6(PTEN):c.-1256G>A http://identifiers.org/clinvar/141063 ^@ NM_024675.3(PALB2):c.2417C>T (p.Pro806Leu) http://identifiers.org/clinvar/141064 ^@ NM_000059.3(BRCA2):c.6600T>G (p.Phe2200Leu) http://identifiers.org/clinvar/141065 ^@ NM_000059.3(BRCA2):c.7436-8T>C http://identifiers.org/clinvar/141066 ^@ NM_000059.3(BRCA2):c.4550A>G (p.Lys1517Arg) http://identifiers.org/clinvar/141067 ^@ NM_000038.5(APC):c.2422_2424delGAT (p.Asp808del) http://identifiers.org/clinvar/141068 ^@ NM_000059.3(BRCA2):c.6331_6332delAA (p.Lys2111Glufs) http://identifiers.org/clinvar/141069 ^@ NM_000251.2(MSH2):c.-68-111C>T http://identifiers.org/clinvar/141070 ^@ NM_000059.3(BRCA2):c.2339C>G (p.Ser780Ter) http://identifiers.org/clinvar/141071 ^@ NM_007294.3(BRCA1):c.5002T>A (p.Phe1668Ile) http://identifiers.org/clinvar/141072 ^@ NM_000059.3(BRCA2):c.8464_8466delATT (p.Ile2822del) http://identifiers.org/clinvar/141073 ^@ NM_000455.4(STK11):c.977C>T (p.Pro326Leu) http://identifiers.org/clinvar/141074 ^@ NM_000059.3(BRCA2):c.3119C>T (p.Thr1040Ile) http://identifiers.org/clinvar/141075 ^@ NM_000059.3(BRCA2):c.6439C>T (p.His2147Tyr) http://identifiers.org/clinvar/141076 ^@ NM_007294.3(BRCA1):c.5014C>T (p.His1672Tyr) http://identifiers.org/clinvar/141077 ^@ NM_007294.3(BRCA1):c.5089T>A (p.Cys1697Ser) http://identifiers.org/clinvar/141078 ^@ NM_000179.2(MSH6):c.2105C>T (p.Ser702Leu) http://identifiers.org/clinvar/141079 ^@ NM_000251.2(MSH2):c.-68-5G>A http://identifiers.org/clinvar/141080 ^@ NM_000179.2(MSH6):c.2309G>A (p.Gly770Asp) http://identifiers.org/clinvar/141081 ^@ NM_001042492.2(NF1):c.7108C>T (p.His2370Tyr) http://identifiers.org/clinvar/141082 ^@ NM_000059.3(BRCA2):c.6836_6837delTAinsCTTTGTGGTAAGTTT (p.Leu2279Serfs) http://identifiers.org/clinvar/141084 ^@ NM_000059.3(BRCA2):c.2274T>G (p.Ser758Arg) http://identifiers.org/clinvar/141085 ^@ NM_000179.2(MSH6):c.3600A>G (p.Ile1200Met) http://identifiers.org/clinvar/141086 ^@ NM_000059.3(BRCA2):c.2473A>G (p.Asn825Asp) http://identifiers.org/clinvar/141087 ^@ NM_000059.3(BRCA2):c.705T>G (p.Asn235Lys) http://identifiers.org/clinvar/141088 ^@ NM_000059.3(BRCA2):c.7630G>A (p.Gly2544Ser) http://identifiers.org/clinvar/141089 ^@ NM_000455.4(STK11):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/141090 ^@ NM_000059.3(BRCA2):c.681+2dupT http://identifiers.org/clinvar/141091 ^@ NM_007294.3(BRCA1):c.512dupT (p.Gln172Thrfs) http://identifiers.org/clinvar/141092 ^@ NM_000059.3(BRCA2):c.4140T>G (p.Ile1380Met) http://identifiers.org/clinvar/141093 ^@ NM_007294.3(BRCA1):c.179A>G (p.Gln60Arg) http://identifiers.org/clinvar/141094 ^@ NM_000535.6(PMS2):c.2317A>G (p.Ser773Gly) http://identifiers.org/clinvar/141095 ^@ NM_058216.2(RAD51C):c.502A>T (p.Arg168Ter) http://identifiers.org/clinvar/141096 ^@ NM_007294.3(BRCA1):c.359A>G (p.Asp120Gly) http://identifiers.org/clinvar/141097 ^@ NM_007294.3(BRCA1):c.2750T>C (p.Ile917Thr) http://identifiers.org/clinvar/141098 ^@ NM_000546.5(TP53):c.358A>G (p.Lys120Glu) http://identifiers.org/clinvar/141099 ^@ NM_000059.3(BRCA2):c.9071A>C (p.Asn3024Thr) http://identifiers.org/clinvar/141100 ^@ NM_000059.3(BRCA2):c.8651A>G (p.Tyr2884Cys) http://identifiers.org/clinvar/141101 ^@ NM_000546.5(TP53):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/141102 ^@ NM_000546.5(TP53):c.935C>G (p.Thr312Ser) http://identifiers.org/clinvar/141103 ^@ NM_007294.3(BRCA1):c.799T>C (p.Ser267Pro) http://identifiers.org/clinvar/141104 ^@ NM_000059.3(BRCA2):c.9043A>G (p.Lys3015Glu) http://identifiers.org/clinvar/141105 ^@ NM_024675.3(PALB2):c.438A>C (p.Arg146Ser) http://identifiers.org/clinvar/141106 ^@ NM_005732.3(RAD50):c.214G>A (p.Val72Ile) http://identifiers.org/clinvar/141107 ^@ NM_001042492.2(NF1):c.2902A>G (p.Met968Val) http://identifiers.org/clinvar/141108 ^@ NM_000038.5(APC):c.2780C>G (p.Ala927Gly) http://identifiers.org/clinvar/141109 ^@ NM_024675.3(PALB2):c.2743G>A (p.Ala915Thr) http://identifiers.org/clinvar/141110 ^@ NM_000314.6(PTEN):c.-1056C>T http://identifiers.org/clinvar/141111 ^@ NM_000077.4(CDKN2A):c.122C>A (p.Pro41Gln) http://identifiers.org/clinvar/141112 ^@ NM_001042492.2(NF1):c.7841A>G (p.Lys2614Arg) http://identifiers.org/clinvar/141113 ^@ NM_004329.2(BMPR1A):c.1333A>G (p.Ile445Val) http://identifiers.org/clinvar/141114 ^@ NM_000546.5(TP53):c.314G>A (p.Gly105Asp) http://identifiers.org/clinvar/141115 ^@ NM_000249.3(MLH1):c.704A>T (p.Asp235Val) http://identifiers.org/clinvar/141116 ^@ NM_001042492.2(NF1):c.231A>T (p.Lys77Asn) http://identifiers.org/clinvar/141117 ^@ NM_000051.3(ATM):c.3628A>G (p.Met1210Val) http://identifiers.org/clinvar/141118 ^@ NM_000059.3(BRCA2):c.7877G>A (p.Trp2626Ter) http://identifiers.org/clinvar/141119 ^@ NM_000465.3(BARD1):c.1580G>C (p.Gly527Ala) http://identifiers.org/clinvar/141120 ^@ NM_000179.2(MSH6):c.1235A>C (p.Lys412Thr) http://identifiers.org/clinvar/141121 ^@ NM_000249.3(MLH1):c.622C>T (p.Pro208Ser) http://identifiers.org/clinvar/141122 ^@ NM_000179.2(MSH6):c.905G>C (p.Arg302Thr) http://identifiers.org/clinvar/141123 ^@ NM_000051.3(ATM):c.967A>G (p.Ile323Val) http://identifiers.org/clinvar/141124 ^@ NM_000038.5(APC):c.4828A>G (p.Ser1610Gly) http://identifiers.org/clinvar/141125 ^@ NM_000059.3(BRCA2):c.1232T>C (p.Ile411Thr) http://identifiers.org/clinvar/141126 ^@ NM_000059.3(BRCA2):c.752C>G (p.Thr251Arg) http://identifiers.org/clinvar/141127 ^@ NM_000059.3(BRCA2):c.9443C>T (p.Ala3148Val) http://identifiers.org/clinvar/141128 ^@ NM_000455.4(STK11):c.566C>T (p.Thr189Ile) http://identifiers.org/clinvar/141129 ^@ NM_000059.3(BRCA2):c.6702delT (p.Phe2234Leufs) http://identifiers.org/clinvar/141130 ^@ NM_001042492.2(NF1):c.7910G>A (p.Arg2637Gln) http://identifiers.org/clinvar/141131 ^@ NM_001042492.2(NF1):c.889-1G>T http://identifiers.org/clinvar/141132 ^@ NM_000249.3(MLH1):c.207+5G>C http://identifiers.org/clinvar/141133 ^@ NM_007194.3(CHEK2):c.1596delC (p.Thr533Glnfs) http://identifiers.org/clinvar/141134 ^@ NM_000465.3(BARD1):c.587A>G (p.Lys196Arg) http://identifiers.org/clinvar/141135 ^@ NM_001128425.1(MUTYH):c.920G>A (p.Arg307Gln) http://identifiers.org/clinvar/141136 ^@ NM_007194.3(CHEK2):c.1175C>T (p.Ala392Val) http://identifiers.org/clinvar/141137 ^@ NM_000051.3(ATM):c.6739A>G (p.Ile2247Val) http://identifiers.org/clinvar/141138 ^@ NM_004329.2(BMPR1A):c.1215A>C (p.Lys405Asn) http://identifiers.org/clinvar/141139 ^@ NM_001042492.2(NF1):c.8495G>A (p.Arg2832His) http://identifiers.org/clinvar/141140 ^@ NM_000314.6(PTEN):c.-1029T>G http://identifiers.org/clinvar/141141 ^@ NM_000546.5(TP53):c.842A>G (p.Asp281Gly) http://identifiers.org/clinvar/141142 ^@ NM_007294.3(BRCA1):c.5153-16_5156del20insAATA http://identifiers.org/clinvar/141143 ^@ NM_002878.3(RAD51D):c.649_655delGGAGGTCinsTGAGGTT (p.Gly217Ter) http://identifiers.org/clinvar/141144 ^@ NM_001128425.1(MUTYH):c.512A>G (p.Asn171Ser) http://identifiers.org/clinvar/141145 ^@ NM_001128425.1(MUTYH):c.749G>A (p.Gly250Asp) http://identifiers.org/clinvar/141146 ^@ NM_002485.4(NBN):c.119C>T (p.Ser40Leu) http://identifiers.org/clinvar/141147 ^@ NM_000251.2(MSH2):c.1697delA (p.Asn566Ilefs) http://identifiers.org/clinvar/141148 ^@ NM_000251.2(MSH2):c.-68G>A http://identifiers.org/clinvar/141149 ^@ NM_002485.4(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle) http://identifiers.org/clinvar/141150 ^@ NM_001128425.1(MUTYH):c.1235C>T (p.Ser412Leu) http://identifiers.org/clinvar/141151 ^@ NM_005732.3(RAD50):c.1677C>G (p.His559Gln) http://identifiers.org/clinvar/141152 ^@ NM_000059.3(BRCA2):c.4556C>G (p.Pro1519Arg) http://identifiers.org/clinvar/141153 ^@ NM_000059.3(BRCA2):c.2490C>A (p.Asn830Lys) http://identifiers.org/clinvar/141154 ^@ NM_000314.6(PTEN):c.190C>T (p.His64Tyr) http://identifiers.org/clinvar/141155 ^@ NM_000059.3(BRCA2):c.5590G>A (p.Asp1864Asn) http://identifiers.org/clinvar/141156 ^@ NM_000455.4(STK11):c.1283C>G (p.Ser428Trp) http://identifiers.org/clinvar/141157 ^@ NM_000314.6(PTEN):c.596T>C (p.Met199Thr) http://identifiers.org/clinvar/141158 ^@ NM_000059.3(BRCA2):c.6120A>G (p.Ile2040Met) http://identifiers.org/clinvar/141159 ^@ NM_000546.5(TP53):c.1003C>T (p.Arg335Cys) http://identifiers.org/clinvar/141160 ^@ NM_004360.4(CDH1):c.1988A>G (p.Tyr663Cys) http://identifiers.org/clinvar/141161 ^@ NM_004360.4(CDH1):c.1927A>G (p.Asn643Asp) http://identifiers.org/clinvar/141162 ^@ NM_000059.3(BRCA2):c.9041C>G (p.Ser3014Ter) http://identifiers.org/clinvar/141163 ^@ NM_000535.6(PMS2):c.494C>T (p.Thr165Ile) http://identifiers.org/clinvar/141164 ^@ NM_001042492.2(NF1):c.4579G>T (p.Asp1527Tyr) http://identifiers.org/clinvar/141165 ^@ NM_000059.3(BRCA2):c.9793T>C (p.Cys3265Arg) http://identifiers.org/clinvar/141166 ^@ NM_000179.2(MSH6):c.3416delG (p.Gly1139Alafs) http://identifiers.org/clinvar/141167 ^@ NM_000051.3(ATM):c.283C>T (p.Gln95Ter) http://identifiers.org/clinvar/141168 ^@ NM_000038.5(APC):c.5879C>T (p.Pro1960Leu) http://identifiers.org/clinvar/141169 ^@ NM_002485.4(NBN):c.1925A>G (p.Lys642Arg) http://identifiers.org/clinvar/141170 ^@ NM_000314.6(PTEN):c.-1172G>C http://identifiers.org/clinvar/141171 ^@ NM_002485.4(NBN):c.451G>T (p.Val151Phe) http://identifiers.org/clinvar/141172 ^@ NM_000251.2(MSH2):c.961A>C (p.Thr321Pro) http://identifiers.org/clinvar/141173 ^@ NM_000251.2(MSH2):c.-68-162G>A http://identifiers.org/clinvar/141174 ^@ NM_000059.3(BRCA2):c.5984A>G (p.Asn1995Ser) http://identifiers.org/clinvar/141175 ^@ NM_058216.2(RAD51C):c.778C>T (p.Arg260Trp) http://identifiers.org/clinvar/141176 ^@ NM_001042492.2(NF1):c.4421C>T (p.Ala1474Val) http://identifiers.org/clinvar/141177 ^@ NM_000249.3(MLH1):c.971dupA (p.Arg325Alafs) http://identifiers.org/clinvar/141178 ^@ NM_000465.3(BARD1):c.1070T>C (p.Ile357Thr) http://identifiers.org/clinvar/141179 ^@ NM_004329.2(BMPR1A):c.118G>A (p.Asp40Asn) http://identifiers.org/clinvar/141180 ^@ NM_000251.2(MSH2):c.1817T>A (p.Val606Asp) http://identifiers.org/clinvar/141181 ^@ NM_002485.4(NBN):c.1480C>A (p.Gln494Lys) http://identifiers.org/clinvar/141182 ^@ NM_000051.3(ATM):c.2921+1G>A http://identifiers.org/clinvar/141183 ^@ NM_000051.3(ATM):c.2021A>G (p.His674Arg) http://identifiers.org/clinvar/141184 ^@ NM_032043.2(BRIP1):c.1781T>C (p.Leu594Ser) http://identifiers.org/clinvar/141185 ^@ NM_024675.3(PALB2):c.1546delA (p.Arg516Glufs) http://identifiers.org/clinvar/141186 ^@ NM_007194.3(CHEK2):c.444+5G>A http://identifiers.org/clinvar/141187 ^@ NM_005732.3(RAD50):c.3257T>C (p.Ile1086Thr) http://identifiers.org/clinvar/141188 ^@ NM_000179.2(MSH6):c.3604A>G (p.Met1202Val) http://identifiers.org/clinvar/141189 ^@ NM_000051.3(ATM):c.6689T>C (p.Ile2230Thr) http://identifiers.org/clinvar/141190 ^@ NM_007194.3(CHEK2):c.609T>G (p.Asp203Glu) http://identifiers.org/clinvar/141191 ^@ NM_000038.5(APC):c.4072G>A (p.Ala1358Thr) http://identifiers.org/clinvar/141192 ^@ NM_000455.4(STK11):c.816C>T (p.Tyr272=) http://identifiers.org/clinvar/141193 ^@ NM_000546.5(TP53):c.838_848delAGAGACCGGCGinsCA (p.Arg280_Arg283delinsHis) http://identifiers.org/clinvar/141194 ^@ NM_007294.3(BRCA1):c.-1A>C http://identifiers.org/clinvar/141195 ^@ NM_000059.3(BRCA2):c.6349dupT (p.Cys2117Leufs) http://identifiers.org/clinvar/141196 ^@ NM_002485.4(NBN):c.2101C>T (p.His701Tyr) http://identifiers.org/clinvar/141197 ^@ NM_000179.2(MSH6):c.3155A>G (p.Glu1052Gly) http://identifiers.org/clinvar/141198 ^@ NM_000455.4(STK11):c.369G>A (p.Gln123=) http://identifiers.org/clinvar/141199 ^@ NM_000059.3(BRCA2):c.2918C>A (p.Ser973Ter) http://identifiers.org/clinvar/141200 ^@ NM_005732.3(RAD50):c.3655G>A (p.Glu1219Lys) http://identifiers.org/clinvar/141201 ^@ NM_000465.3(BARD1):c.76A>G (p.Met26Val) http://identifiers.org/clinvar/141202 ^@ NM_005732.3(RAD50):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/141203 ^@ NM_032043.2(BRIP1):c.2465A>G (p.Tyr822Cys) http://identifiers.org/clinvar/141204 ^@ NM_000059.3(BRCA2):c.4892A>T (p.Lys1631Ile) http://identifiers.org/clinvar/141205 ^@ NM_058216.2(RAD51C):c.862A>G (p.Thr288Ala) http://identifiers.org/clinvar/141206 ^@ NM_004360.4(CDH1):c.1565+1G>T http://identifiers.org/clinvar/141207 ^@ NM_000051.3(ATM):c.5270C>T (p.Thr1757Ile) http://identifiers.org/clinvar/141208 ^@ NM_005732.3(RAD50):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/141209 ^@ NM_001042492.2(NF1):c.2252-1G>C http://identifiers.org/clinvar/141210 ^@ NM_000455.4(STK11):c.598-12G>A http://identifiers.org/clinvar/141211 ^@ NM_000455.4(STK11):c.464+7G>A http://identifiers.org/clinvar/141212 ^@ NM_000059.3(BRCA2):c.5465A>T (p.Asn1822Ile) http://identifiers.org/clinvar/141213 ^@ NM_000059.3(BRCA2):c.6308C>G (p.Ser2103Ter) http://identifiers.org/clinvar/141214 ^@ NM_000059.3(BRCA2):c.4886C>T (p.Thr1629Ile) http://identifiers.org/clinvar/141215 ^@ NM_000051.3(ATM):c.1223A>G (p.Asp408Gly) http://identifiers.org/clinvar/141216 ^@ NM_000038.5(APC):c.4525C>G (p.Leu1509Val) http://identifiers.org/clinvar/141217 ^@ NM_000051.3(ATM):c.2377A>G (p.Lys793Glu) http://identifiers.org/clinvar/141218 ^@ NM_000051.3(ATM):c.6095+1G>A http://identifiers.org/clinvar/141219 ^@ NM_000059.3(BRCA2):c.5422_5423delAT (p.Ile1808Leufs) http://identifiers.org/clinvar/141220 ^@ NM_000038.5(APC):c.1171A>G (p.Ile391Val) http://identifiers.org/clinvar/141221 ^@ NM_000038.5(APC):c.146A>G (p.Lys49Arg) http://identifiers.org/clinvar/141222 ^@ NM_000059.3(BRCA2):c.1153A>G (p.Lys385Glu) http://identifiers.org/clinvar/141223 ^@ NM_007294.3(BRCA1):c.3167C>G (p.Ser1056Cys) http://identifiers.org/clinvar/141224 ^@ NM_000546.5(TP53):c.695T>C (p.Ile232Thr) http://identifiers.org/clinvar/141225 ^@ NM_005591.3(MRE11):c.37T>A (p.Phe13Ile) http://identifiers.org/clinvar/141226 ^@ NM_005591.3(MRE11):c.1458A>C (p.Lys486Asn) http://identifiers.org/clinvar/141227 ^@ NM_000465.3(BARD1):c.335G>A (p.Arg112Gln) http://identifiers.org/clinvar/141228 ^@ NM_000546.5(TP53):c.784G>A (p.Gly262Ser) http://identifiers.org/clinvar/141229 ^@ NM_000465.3(BARD1):c.1694G>T (p.Arg565Leu) http://identifiers.org/clinvar/141230 ^@ NM_005732.3(RAD50):c.1556G>T (p.Arg519Leu) http://identifiers.org/clinvar/141231 ^@ NM_007194.3(CHEK2):c.151C>T (p.Gln51Ter) http://identifiers.org/clinvar/141232 ^@ NM_000179.2(MSH6):c.3026A>T (p.Lys1009Ile) http://identifiers.org/clinvar/141233 ^@ NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) http://identifiers.org/clinvar/141234 ^@ NM_000059.3(BRCA2):c.971G>A (p.Arg324Lys) http://identifiers.org/clinvar/141235 ^@ NM_005359.5(SMAD4):c.1635T>G (p.Ile545Met) http://identifiers.org/clinvar/141236 ^@ NM_000251.2(MSH2):c.2348A>G (p.His783Arg) http://identifiers.org/clinvar/141237 ^@ NM_001042492.2(NF1):c.340C>T (p.Leu114=) http://identifiers.org/clinvar/141238 ^@ NM_000051.3(ATM):c.2189G>A (p.Cys730Tyr) http://identifiers.org/clinvar/141239 ^@ NM_000465.3(BARD1):c.1108C>T (p.Arg370Cys) http://identifiers.org/clinvar/141240 ^@ NM_000051.3(ATM):c.8505C>A (p.Cys2835Ter) http://identifiers.org/clinvar/141241 ^@ NM_000051.3(ATM):c.1290_1291delTG (p.Cys430Terfs) http://identifiers.org/clinvar/141242 ^@ NM_004168.3(SDHA):c.969C>T (p.Gly323=) http://identifiers.org/clinvar/141243 ^@ NM_000059.3(BRCA2):c.4969A>G (p.Asn1657Asp) http://identifiers.org/clinvar/141244 ^@ NM_000038.5(APC):c.5011G>C (p.Ala1671Pro) http://identifiers.org/clinvar/141245 ^@ NM_000077.4(CDKN2A):c.-2G>A http://identifiers.org/clinvar/141246 ^@ NM_001128425.1(MUTYH):c.1072T>C (p.Phe358Leu) http://identifiers.org/clinvar/141247 ^@ NM_000059.3(BRCA2):c.4252A>G (p.Ile1418Val) http://identifiers.org/clinvar/141248 ^@ NM_024675.3(PALB2):c.2514+3dupA http://identifiers.org/clinvar/141249 ^@ NM_000314.6(PTEN):c.-972C>T http://identifiers.org/clinvar/141250 ^@ NM_000179.2(MSH6):c.*1A>G http://identifiers.org/clinvar/141251 ^@ NM_000051.3(ATM):c.1888G>A (p.Val630Met) http://identifiers.org/clinvar/141253 ^@ NM_000038.5(APC):c.3079T>C (p.Tyr1027His) http://identifiers.org/clinvar/141254 ^@ NM_000059.3(BRCA2):c.9119T>C (p.Val3040Ala) http://identifiers.org/clinvar/141255 ^@ NM_000051.3(ATM):c.2258T>C (p.Met753Thr) http://identifiers.org/clinvar/141256 ^@ NM_024675.3(PALB2):c.101G>A (p.Arg34His) http://identifiers.org/clinvar/141257 ^@ NM_005732.3(RAD50):c.182C>G (p.Thr61Ser) http://identifiers.org/clinvar/141258 ^@ NM_000179.2(MSH6):c.3361G>A (p.Glu1121Lys) http://identifiers.org/clinvar/141259 ^@ NM_000059.3(BRCA2):c.6479A>G (p.Gln2160Arg) http://identifiers.org/clinvar/141260 ^@ NM_007294.3(BRCA1):c.4401delG (p.Asn1468Ilefs) http://identifiers.org/clinvar/141261 ^@ NM_004360.4(CDH1):c.1153C>A (p.Pro385Thr) http://identifiers.org/clinvar/141262 ^@ NM_007294.3(BRCA1):c.1813G>T (p.Ala605Ser) http://identifiers.org/clinvar/141263 ^@ NM_007294.3(BRCA1):c.1824_1826delGAA (p.Lys608del) http://identifiers.org/clinvar/141264 ^@ NM_004360.4(CDH1):c.1897G>A (p.Gly633Arg) http://identifiers.org/clinvar/141265 ^@ NM_000179.2(MSH6):c.1814C>G (p.Thr605Ser) http://identifiers.org/clinvar/141266 ^@ NM_000251.2(MSH2):c.1071G>C (p.Glu357Asp) http://identifiers.org/clinvar/141267 ^@ NM_005359.5(SMAD4):c.1308+1G>T http://identifiers.org/clinvar/141268 ^@ NM_000455.4(STK11):c.465-3C>T http://identifiers.org/clinvar/141269 ^@ NM_002485.4(NBN):c.172-3C>T http://identifiers.org/clinvar/141270 ^@ NM_000465.3(BARD1):c.1376A>G (p.His459Arg) http://identifiers.org/clinvar/141271 ^@ NM_000051.3(ATM):c.5488A>G (p.Met1830Val) http://identifiers.org/clinvar/141272 ^@ NM_007294.3(BRCA1):c.4790C>A (p.Thr1597Asn) http://identifiers.org/clinvar/141273 ^@ NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) http://identifiers.org/clinvar/141274 ^@ NM_000179.2(MSH6):c.3299C>G (p.Thr1100Arg) http://identifiers.org/clinvar/141275 ^@ NM_002485.4(NBN):c.115C>G (p.Gln39Glu) http://identifiers.org/clinvar/141276 ^@ NM_000038.5(APC):c.854A>G (p.Asp285Gly) http://identifiers.org/clinvar/141277 ^@ NM_004329.2(BMPR1A):c.713G>A (p.Arg238Gln) http://identifiers.org/clinvar/141278 ^@ NM_002485.4(NBN):c.1628A>G (p.Glu543Gly) http://identifiers.org/clinvar/141279 ^@ NM_005732.3(RAD50):c.94dupA (p.Thr32Asnfs) http://identifiers.org/clinvar/141280 ^@ NM_000535.6(PMS2):c.2500_2501delATinsG (p.Met834Glyfs) http://identifiers.org/clinvar/141281 ^@ NM_000251.2(MSH2):c.1360A>G (p.Ile454Val) http://identifiers.org/clinvar/141282 ^@ NM_001128425.1(MUTYH):c.1187-2A>G http://identifiers.org/clinvar/141283 ^@ NM_000059.3(BRCA2):c.1909+1G>A http://identifiers.org/clinvar/141284 ^@ NM_000051.3(ATM):c.9070A>C (p.Thr3024Pro) http://identifiers.org/clinvar/141285 ^@ NM_000455.4(STK11):c.598-17G>A http://identifiers.org/clinvar/141286 ^@ NM_007294.3(BRCA1):c.192T>A (p.Cys64Ter) http://identifiers.org/clinvar/141287 ^@ NM_000455.4(STK11):c.1208A>G (p.Lys403Arg) http://identifiers.org/clinvar/141288 ^@ NM_004360.4(CDH1):c.854C>T (p.Thr285Ile) http://identifiers.org/clinvar/141289 ^@ NM_000051.3(ATM):c.1905_1910delCCACCA (p.His635_His636del) http://identifiers.org/clinvar/141290 ^@ NM_000455.4(STK11):c.464+12G>T http://identifiers.org/clinvar/141291 ^@ NM_000535.6(PMS2):c.2465T>C (p.Leu822Pro) http://identifiers.org/clinvar/141292 ^@ NM_000051.3(ATM):c.3154-5C>T http://identifiers.org/clinvar/141293 ^@ NM_000038.5(APC):c.3824G>C (p.Ser1275Thr) http://identifiers.org/clinvar/141294 ^@ NM_000455.4(STK11):c.697G>A (p.Gly233Ser) http://identifiers.org/clinvar/141295 ^@ NM_032043.2(BRIP1):c.1082delA (p.Asp361Valfs) http://identifiers.org/clinvar/141296 ^@ NM_000179.2(MSH6):c.2906A>T (p.Tyr969Phe) http://identifiers.org/clinvar/141297 ^@ NM_000249.3(MLH1):c.1549G>C (p.Gly517Arg) http://identifiers.org/clinvar/141298 ^@ NM_005359.5(SMAD4):c.1448-5G>C http://identifiers.org/clinvar/141299 ^@ NM_000179.2(MSH6):c.3244C>T (p.Pro1082Ser) http://identifiers.org/clinvar/141300 ^@ NM_002878.3(RAD51D):c.751A>G (p.Ile251Val) http://identifiers.org/clinvar/141301 ^@ NM_007294.3(BRCA1):c.2905A>G (p.Asn969Asp) http://identifiers.org/clinvar/141302 ^@ NM_000546.5(TP53):c.337T>G (p.Phe113Val) http://identifiers.org/clinvar/141303 ^@ NM_007294.3(BRCA1):c.231G>C (p.Thr77=) http://identifiers.org/clinvar/141304 ^@ NM_000455.4(STK11):c.974G>T (p.Ser325Ile) http://identifiers.org/clinvar/141305 ^@ NM_032043.2(BRIP1):c.2689A>G (p.Lys897Glu) http://identifiers.org/clinvar/141306 ^@ NM_001128425.1(MUTYH):c.588G>C (p.Glu196Asp) http://identifiers.org/clinvar/141307 ^@ NM_005591.3(MRE11):c.1139G>A (p.Arg380His) http://identifiers.org/clinvar/141308 ^@ NM_000059.3(BRCA2):c.2014A>G (p.Arg672Gly) http://identifiers.org/clinvar/141309 ^@ NM_000059.3(BRCA2):c.9257-5_9278del27 http://identifiers.org/clinvar/141310 ^@ NM_002878.3(RAD51D):c.614T>C (p.Val205Ala) http://identifiers.org/clinvar/141311 ^@ NM_000179.2(MSH6):c.2125dupT (p.Tyr709Leufs) http://identifiers.org/clinvar/141312 ^@ NM_000038.5(APC):c.3970C>T (p.Pro1324Ser) http://identifiers.org/clinvar/141313 ^@ NM_001042492.2(NF1):c.7744C>A (p.Gln2582Lys) http://identifiers.org/clinvar/141314 ^@ NM_007194.3(CHEK2):c.485A>G (p.Asp162Gly) http://identifiers.org/clinvar/141315 ^@ NM_000051.3(ATM):c.4373delG (p.Gly1458Glufs) http://identifiers.org/clinvar/141316 ^@ NM_000051.3(ATM):c.2131A>G (p.Asn711Asp) http://identifiers.org/clinvar/141317 ^@ NM_005732.3(RAD50):c.1604G>A (p.Arg535His) http://identifiers.org/clinvar/141318 ^@ NM_032043.2(BRIP1):c.485G>A (p.Arg162Gln) http://identifiers.org/clinvar/141319 ^@ NM_032043.2(BRIP1):c.918+1G>A http://identifiers.org/clinvar/141320 ^@ NM_024675.3(PALB2):c.3508C>T (p.His1170Tyr) http://identifiers.org/clinvar/141321 ^@ NM_000051.3(ATM):c.2912_2916delAACCA (p.Lys971Thrfs) http://identifiers.org/clinvar/141322 ^@ NM_000179.2(MSH6):c.1267C>G (p.Leu423Val) http://identifiers.org/clinvar/141323 ^@ NM_001042492.2(NF1):c.4526G>A (p.Arg1509His) http://identifiers.org/clinvar/141324 ^@ NM_058216.2(RAD51C):c.640C>T (p.Arg214Cys) http://identifiers.org/clinvar/141325 ^@ NM_000051.3(ATM):c.2284_2285delCT (p.Leu762Valfs) http://identifiers.org/clinvar/141326 ^@ NM_000179.2(MSH6):c.2964dupC (p.Asn989Glnfs) http://identifiers.org/clinvar/141327 ^@ NM_000179.2(MSH6):c.4004A>C (p.Glu1335Ala) http://identifiers.org/clinvar/141328 ^@ NM_000179.2(MSH6):c.1120_1122delAAG (p.Lys374del) http://identifiers.org/clinvar/141329 ^@ NM_000051.3(ATM):c.126T>G (p.His42Gln) http://identifiers.org/clinvar/141330 ^@ NM_024675.3(PALB2):c.26delTinsCG (p.Leu9Profs) http://identifiers.org/clinvar/141331 ^@ NM_000546.5(TP53):c.1082G>A (p.Gly361Glu) http://identifiers.org/clinvar/141332 ^@ NM_000546.5(TP53):c.1101-2A>G http://identifiers.org/clinvar/141333 ^@ NM_007294.3(BRCA1):c.4858A>G (p.Thr1620Ala) http://identifiers.org/clinvar/141334 ^@ NM_000059.3(BRCA2):c.7855dupT (p.Trp2619Leufs) http://identifiers.org/clinvar/141335 ^@ NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) http://identifiers.org/clinvar/141336 ^@ NM_032043.2(BRIP1):c.3237T>G (p.Ile1079Met) http://identifiers.org/clinvar/141337 ^@ NM_007194.3(CHEK2):c.434G>A (p.Arg145Gln) http://identifiers.org/clinvar/141338 ^@ NM_001042492.2(NF1):c.888+5G>A http://identifiers.org/clinvar/141339 ^@ NM_001128425.1(MUTYH):c.1483C>T (p.Arg495Cys) http://identifiers.org/clinvar/141340 ^@ NM_007194.3(CHEK2):c.307T>C (p.Phe103Leu) http://identifiers.org/clinvar/141341 ^@ NM_001042492.2(NF1):c.575G>A (p.Arg192Gln) http://identifiers.org/clinvar/141342 ^@ NM_000465.3(BARD1):c.657_660delTTTA (p.Asn219Lysfs) http://identifiers.org/clinvar/141343 ^@ NM_002878.3(RAD51D):c.983C>T (p.Thr328Ile) http://identifiers.org/clinvar/141344 ^@ NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) http://identifiers.org/clinvar/141345 ^@ NM_000059.3(BRCA2):c.695A>G (p.Tyr232Cys) http://identifiers.org/clinvar/141346 ^@ NM_000179.2(MSH6):c.3111C>A (p.Phe1037Leu) http://identifiers.org/clinvar/141347 ^@ NM_000051.3(ATM):c.6784G>C (p.Ala2262Pro) http://identifiers.org/clinvar/141348 ^@ NM_001042492.2(NF1):c.1439A>C (p.Lys480Thr) http://identifiers.org/clinvar/141349 ^@ NM_005591.3(MRE11):c.526A>G (p.Ile176Val) http://identifiers.org/clinvar/141350 ^@ NM_032043.2(BRIP1):c.3590G>A (p.Gly1197Glu) http://identifiers.org/clinvar/141351 ^@ NM_000251.2(MSH2):c.2439G>A (p.Met813Ile) http://identifiers.org/clinvar/141352 ^@ NM_000051.3(ATM):c.4961T>C (p.Leu1654Ser) http://identifiers.org/clinvar/141353 ^@ NM_058216.2(RAD51C):c.563A>T (p.Lys188Met) http://identifiers.org/clinvar/141354 ^@ NM_000455.4(STK11):c.464+5G>A http://identifiers.org/clinvar/141355 ^@ NM_000143.3(FH):c.697C>T (p.Arg233Cys) http://identifiers.org/clinvar/141356 ^@ NM_000548.4(TSC2):c.2742+4G>A http://identifiers.org/clinvar/141357 ^@ NM_007294.3(BRCA1):c.2252T>C (p.Met751Thr) http://identifiers.org/clinvar/141358 ^@ NM_000059.3(BRCA2):c.2792G>A (p.Gly931Glu) http://identifiers.org/clinvar/141359 ^@ NM_000546.5(TP53):c.554G>A (p.Ser185Asn) http://identifiers.org/clinvar/141360 ^@ NM_005732.3(RAD50):c.2992A>C (p.Asn998His) http://identifiers.org/clinvar/141361 ^@ NM_001042492.2(NF1):c.6642+4T>C http://identifiers.org/clinvar/141362 ^@ NM_000051.3(ATM):c.427A>G (p.Asn143Asp) http://identifiers.org/clinvar/141363 ^@ NM_000059.3(BRCA2):c.8384_8395delTTCCTGACCCTA (p.Phe2795_Ser3133delinsTer) http://identifiers.org/clinvar/141364 ^@ NM_000179.2(MSH6):c.3557G>A (p.Gly1186Asp) http://identifiers.org/clinvar/141365 ^@ NM_000179.2(MSH6):c.742delC (p.Arg248Glufs) http://identifiers.org/clinvar/141366 ^@ NM_000038.5(APC):c.1564A>G (p.Met522Val) http://identifiers.org/clinvar/141367 ^@ NM_001042492.2(NF1):c.5064G>T (p.Glu1688Asp) http://identifiers.org/clinvar/141368 ^@ NM_000038.5(APC):c.147_150delACAA (p.Lys49Asnfs) http://identifiers.org/clinvar/141369 ^@ NM_001042492.2(NF1):c.1588G>A (p.Val530Ile) http://identifiers.org/clinvar/141370 ^@ NM_000038.5(APC):c.6145A>G (p.Lys2049Glu) http://identifiers.org/clinvar/141371 ^@ NM_004360.4(CDH1):c.1930G>A (p.Asp644Asn) http://identifiers.org/clinvar/141372 ^@ NM_024675.3(PALB2):c.654delA (p.Asp219Thrfs) http://identifiers.org/clinvar/141373 ^@ NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) http://identifiers.org/clinvar/141374 ^@ NM_007194.3(CHEK2):c.908+1G>A http://identifiers.org/clinvar/141375 ^@ NM_001042492.2(NF1):c.4110+4T>C http://identifiers.org/clinvar/141376 ^@ NM_004360.4(CDH1):c.2017C>A (p.Gln673Lys) http://identifiers.org/clinvar/141377 ^@ NM_000546.5(TP53):c.920-1G>A http://identifiers.org/clinvar/141378 ^@ NM_001128425.1(MUTYH):c.1055C>A (p.Thr352Asn) http://identifiers.org/clinvar/141379 ^@ NM_001128425.1(MUTYH):c.91delG (p.Ala31Profs) http://identifiers.org/clinvar/141380 ^@ NM_002485.4(NBN):c.671G>A (p.Gly224Glu) http://identifiers.org/clinvar/141381 ^@ NM_007194.3(CHEK2):c.216T>G (p.Tyr72Ter) http://identifiers.org/clinvar/141382 ^@ NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) http://identifiers.org/clinvar/141383 ^@ NM_000314.6(PTEN):c.-862G>T http://identifiers.org/clinvar/141384 ^@ NM_000465.3(BARD1):c.1652C>G (p.Ser551Ter) http://identifiers.org/clinvar/141385 ^@ NM_024675.3(PALB2):c.2568A>C (p.Gln856His) http://identifiers.org/clinvar/141386 ^@ NM_001042492.2(NF1):c.665A>C (p.Asn222Thr) http://identifiers.org/clinvar/141387 ^@ NM_007194.3(CHEK2):c.1591G>C (p.Glu531Gln) http://identifiers.org/clinvar/141388 ^@ NM_000051.3(ATM):c.9156G>T (p.Trp3052Cys) http://identifiers.org/clinvar/141389 ^@ NM_000051.3(ATM):c.4673C>T (p.Thr1558Met) http://identifiers.org/clinvar/141390 ^@ NM_000465.3(BARD1):c.38G>A (p.Arg13Lys) http://identifiers.org/clinvar/141391 ^@ NM_000059.3(BRCA2):c.10007G>C (p.Ser3336Thr) http://identifiers.org/clinvar/141392 ^@ NM_007294.3(BRCA1):c.1336A>G (p.Arg446Gly) http://identifiers.org/clinvar/141393 ^@ NM_001042492.2(NF1):c.5289A>G (p.Gln1763=) http://identifiers.org/clinvar/141394 ^@ NM_000535.6(PMS2):c.1688G>A (p.Arg563Gln) http://identifiers.org/clinvar/141395 ^@ NM_000535.6(PMS2):c.325delG (p.Glu109Lysfs) http://identifiers.org/clinvar/141396 ^@ NM_000251.2(MSH2):c.2551C>G (p.Leu851Val) http://identifiers.org/clinvar/141398 ^@ NM_002485.4(NBN):c.88_89delAA (p.Asn30Leufs) http://identifiers.org/clinvar/141399 ^@ NM_000059.3(BRCA2):c.8183T>C (p.Val2728Ala) http://identifiers.org/clinvar/141400 ^@ NM_001128425.1(MUTYH):c.608G>C (p.Arg203Pro) http://identifiers.org/clinvar/141401 ^@ NM_004168.3(SDHA):c.818C>T (p.Thr273Ile) http://identifiers.org/clinvar/141402 ^@ NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) http://identifiers.org/clinvar/141403 ^@ NM_005732.3(RAD50):c.354delT (p.Thr119Leufs) http://identifiers.org/clinvar/141404 ^@ NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) http://identifiers.org/clinvar/141405 ^@ NM_000075.3(CDK4):c.823A>T (p.Met275Leu) http://identifiers.org/clinvar/141406 ^@ NM_000251.2(MSH2):c.698C>G (p.Ser233Cys) http://identifiers.org/clinvar/141407 ^@ NM_001042492.2(NF1):c.3394C>T (p.Arg1132Cys) http://identifiers.org/clinvar/141408 ^@ NM_032043.2(BRIP1):c.1571A>G (p.Gln524Arg) http://identifiers.org/clinvar/141409 ^@ NM_000051.3(ATM):c.5893_5897delAAAAG (p.Lys1965Tyrfs) http://identifiers.org/clinvar/141410 ^@ NM_004464.3(FGF5):c.459+1delG http://identifiers.org/clinvar/141411 ^@ NM_004464.3(FGF5):c.160_161delAT (p.Met54Valfs) http://identifiers.org/clinvar/141412 ^@ NM_000465.3(BARD1):c.947T>G (p.Leu316Ter) http://identifiers.org/clinvar/141413 ^@ NM_004464.3(FGF5):c.520T>C (p.Tyr174His) http://identifiers.org/clinvar/141414 ^@ NM_005591.3(MRE11):c.305G>T (p.Gly102Val) http://identifiers.org/clinvar/141415 ^@ NM_004168.3(SDHA):c.1541G>C (p.Ser514Thr) http://identifiers.org/clinvar/141416 ^@ NM_000051.3(ATM):c.5712dupA (p.Ser1905Ilefs) http://identifiers.org/clinvar/141417 ^@ NM_000249.3(MLH1):c.-251G>T http://identifiers.org/clinvar/141418 ^@ NM_005732.3(RAD50):c.2686A>G (p.Thr896Ala) http://identifiers.org/clinvar/141419 ^@ NM_000077.4(CDKN2A):c.415G>A (p.Gly139Ser) http://identifiers.org/clinvar/141420 ^@ NM_020975.4(RET):c.1760-3C>T http://identifiers.org/clinvar/141421 ^@ NM_173851.2(SLC30A8):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/141422 ^@ NM_173851.2(SLC30A8):c.101_107delAAGATCA (p.Lys34Serfs) http://identifiers.org/clinvar/141423 ^@ NM_003000.2(SDHB):c.386C>G (p.Pro129Arg) http://identifiers.org/clinvar/141424 ^@ NM_001167734.1(VARS2):c.1135G>A (p.Ala379Thr) http://identifiers.org/clinvar/141425 ^@ NM_000546.5(TP53):c.1163A>C (p.Glu388Ala) http://identifiers.org/clinvar/141426 ^@ NM_001167734.1(VARS2):c.1877C>A (p.Ala626Asp) http://identifiers.org/clinvar/141427 ^@ NM_001167734.1(VARS2):c.1100C>T (p.Thr367Ile) http://identifiers.org/clinvar/141428 ^@ NM_007294.3(BRCA1):c.1016A>C (p.Lys339Thr) http://identifiers.org/clinvar/141429 ^@ NM_000059.3(BRCA2):c.67+5T>A http://identifiers.org/clinvar/141430 ^@ NM_000179.2(MSH6):c.2226C>G (p.Asn742Lys) http://identifiers.org/clinvar/141431 ^@ NM_005732.3(RAD50):c.3076A>C (p.Lys1026Gln) http://identifiers.org/clinvar/141432 ^@ NM_000051.3(ATM):c.379A>G (p.Thr127Ala) http://identifiers.org/clinvar/141433 ^@ NM_005732.3(RAD50):c.1794-1G>T http://identifiers.org/clinvar/141434 ^@ NM_000179.2(MSH6):c.2855T>C (p.Leu952Pro) http://identifiers.org/clinvar/141435 ^@ NM_032043.2(BRIP1):c.3071G>T (p.Gly1024Val) http://identifiers.org/clinvar/141436 ^@ NM_000038.5(APC):c.8389A>G (p.Ser2797Gly) http://identifiers.org/clinvar/141437 ^@ NM_000251.2(MSH2):c.797C>T (p.Ala266Val) http://identifiers.org/clinvar/141438 ^@ NM_000179.2(MSH6):c.4080_*20del24 http://identifiers.org/clinvar/141439 ^@ NM_001042492.2(NF1):c.2509T>A (p.Trp837Arg) http://identifiers.org/clinvar/141440 ^@ NM_002485.4(NBN):c.73G>A (p.Val25Ile) http://identifiers.org/clinvar/141441 ^@ NM_005732.3(RAD50):c.1522C>G (p.Gln508Glu) http://identifiers.org/clinvar/141442 ^@ NM_000249.3(MLH1):c.1007G>A (p.Gly336Asp) http://identifiers.org/clinvar/141443 ^@ NM_004360.4(CDH1):c.1184C>T (p.Thr395Ile) http://identifiers.org/clinvar/141444 ^@ NM_000051.3(ATM):c.3369delA (p.Tyr1124Thrfs) http://identifiers.org/clinvar/141445 ^@ NM_000051.3(ATM):c.1914A>C (p.Lys638Asn) http://identifiers.org/clinvar/141446 ^@ NM_000051.3(ATM):c.4938delA (p.Lys1646Asnfs) http://identifiers.org/clinvar/141447 ^@ NM_000051.3(ATM):c.3993+1G>A http://identifiers.org/clinvar/141448 ^@ NM_001042492.2(NF1):c.4219A>G (p.Ser1407Gly) http://identifiers.org/clinvar/141449 ^@ NM_000059.3(BRCA2):c.8948_8953+5delATTCAGGTAAG http://identifiers.org/clinvar/141450 ^@ NM_004360.4(CDH1):c.1019C>T (p.Thr340Met) http://identifiers.org/clinvar/141451 ^@ NM_001042492.2(NF1):c.3436G>A (p.Val1146Ile) http://identifiers.org/clinvar/141452 ^@ NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter) http://identifiers.org/clinvar/141453 ^@ NM_002878.3(RAD51D):c.145-4G>A http://identifiers.org/clinvar/141454 ^@ NM_001042492.2(NF1):c.367A>G (p.Thr123Ala) http://identifiers.org/clinvar/141455 ^@ NM_000548.4(TSC2):c.119T>C (p.Ile40Thr) http://identifiers.org/clinvar/141456 ^@ NM_004360.4(CDH1):c.994G>A (p.Gly332Arg) http://identifiers.org/clinvar/141457 ^@ NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) http://identifiers.org/clinvar/141458 ^@ NM_007294.3(BRCA1):c.535T>C (p.Tyr179His) http://identifiers.org/clinvar/141459 ^@ NM_000059.3(BRCA2):c.8782G>T (p.Ala2928Ser) http://identifiers.org/clinvar/141460 ^@ NM_000059.3(BRCA2):c.4987G>C (p.Val1663Leu) http://identifiers.org/clinvar/141461 ^@ NM_000059.3(BRCA2):c.7207A>G (p.Thr2403Ala) http://identifiers.org/clinvar/141462 ^@ NM_007294.3(BRCA1):c.3415A>C (p.Ser1139Arg) http://identifiers.org/clinvar/141463 ^@ NM_004360.4(CDH1):c.631A>T (p.Thr211Ser) http://identifiers.org/clinvar/141464 ^@ NM_000546.5(TP53):c.125A>G (p.Asp42Gly) http://identifiers.org/clinvar/141465 ^@ NM_007294.3(BRCA1):c.4231A>G (p.Met1411Val) http://identifiers.org/clinvar/141466 ^@ NM_007294.3(BRCA1):c.1097A>T (p.Asp366Val) http://identifiers.org/clinvar/141467 ^@ NM_007294.3(BRCA1):c.5321A>G (p.Asn1774Ser) http://identifiers.org/clinvar/141468 ^@ NM_007294.3(BRCA1):c.2679G>T (p.Lys893Asn) http://identifiers.org/clinvar/141469 ^@ NM_000059.3(BRCA2):c.9770_9773delAAGA (p.Lys3257Argfs) http://identifiers.org/clinvar/141470 ^@ NM_005591.3(MRE11):c.1501-4C>A http://identifiers.org/clinvar/141471 ^@ NM_017849.3(TMEM127):c.248delT (p.Phe83Serfs) http://identifiers.org/clinvar/141472 ^@ NM_000548.4(TSC2):c.3275C>T (p.Pro1092Leu) http://identifiers.org/clinvar/141473 ^@ NM_000251.2(MSH2):c.1073A>C (p.Glu358Ala) http://identifiers.org/clinvar/141474 ^@ NM_000051.3(ATM):c.1355delC (p.Thr452Asnfs) http://identifiers.org/clinvar/141475 ^@ NM_000179.2(MSH6):c.677A>G (p.Glu226Gly) http://identifiers.org/clinvar/141476 ^@ NM_000059.3(BRCA2):c.9572G>T (p.Trp3191Leu) http://identifiers.org/clinvar/141477 ^@ NM_004360.4(CDH1):c.980G>T (p.Ser327Ile) http://identifiers.org/clinvar/141478 ^@ NM_000059.3(BRCA2):c.4070T>G (p.Leu1357Arg) http://identifiers.org/clinvar/141479 ^@ NM_007294.3(BRCA1):c.3664_3666delGAG (p.Glu1222del) http://identifiers.org/clinvar/141480 ^@ NM_001042492.2(NF1):c.4904_4905insAAT (p.Tyr1635_Gln1969delinsTer) http://identifiers.org/clinvar/141481 ^@ NM_007294.3(BRCA1):c.2203C>G (p.Leu735Val) http://identifiers.org/clinvar/141482 ^@ NM_000548.4(TSC2):c.3323C>T (p.Ala1108Val) http://identifiers.org/clinvar/141483 ^@ NM_000546.5(TP53):c.892G>A (p.Glu298Lys) http://identifiers.org/clinvar/141484 ^@ NM_004360.4(CDH1):c.1300G>C (p.Gly434Arg) http://identifiers.org/clinvar/141485 ^@ NM_000314.6(PTEN):c.493-2A>G http://identifiers.org/clinvar/141486 ^@ NM_000051.3(ATM):c.4049C>T (p.Thr1350Met) http://identifiers.org/clinvar/141487 ^@ NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) http://identifiers.org/clinvar/141488 ^@ NM_000051.3(ATM):c.3831G>C (p.Glu1277Asp) http://identifiers.org/clinvar/141489 ^@ NM_000249.3(MLH1):c.486_488delGAG (p.Arg163del) http://identifiers.org/clinvar/141490 ^@ NM_000051.3(ATM):c.6477T>G (p.Cys2159Trp) http://identifiers.org/clinvar/141491 ^@ NM_001042492.2(NF1):c.4417G>A (p.Asp1473Asn) http://identifiers.org/clinvar/141492 ^@ NM_005591.3(MRE11):c.1724G>T (p.Gly575Val) http://identifiers.org/clinvar/141493 ^@ NM_001042492.2(NF1):c.7963C>A (p.Pro2655Thr) http://identifiers.org/clinvar/141494 ^@ NM_000059.3(BRCA2):c.9089C>T (p.Thr3030Ile) http://identifiers.org/clinvar/141495 ^@ NM_032043.2(BRIP1):c.2553T>G (p.Asn851Lys) http://identifiers.org/clinvar/141496 ^@ NM_000051.3(ATM):c.2260C>A (p.Gln754Lys) http://identifiers.org/clinvar/141497 ^@ NM_000249.3(MLH1):c.-252C>A http://identifiers.org/clinvar/141498 ^@ NM_000059.3(BRCA2):c.1666A>G (p.Asn556Asp) http://identifiers.org/clinvar/141499 ^@ NM_032043.2(BRIP1):c.2543G>A (p.Arg848His) http://identifiers.org/clinvar/141500 ^@ NM_000251.2(MSH2):c.409G>C (p.Gly137Arg) http://identifiers.org/clinvar/141501 ^@ NM_024675.3(PALB2):c.3201+1G>T http://identifiers.org/clinvar/141502 ^@ NM_000249.3(MLH1):c.1714G>A (p.Gly572Ser) http://identifiers.org/clinvar/141503 ^@ NM_032043.2(BRIP1):c.817A>C (p.Met273Leu) http://identifiers.org/clinvar/141504 ^@ NM_007294.3(BRCA1):c.302A>G (p.Tyr101Cys) http://identifiers.org/clinvar/141505 ^@ NM_000059.3(BRCA2):c.1376T>C (p.Leu459Ser) http://identifiers.org/clinvar/141506 ^@ NM_000059.3(BRCA2):c.8834A>G (p.Gln2945Arg) http://identifiers.org/clinvar/141507 ^@ NM_000059.3(BRCA2):c.1765A>C (p.Lys589Gln) http://identifiers.org/clinvar/141508 ^@ NM_000455.4(STK11):c.449T>C (p.Val150Ala) http://identifiers.org/clinvar/141509 ^@ NM_000059.3(BRCA2):c.6816_6820delAAGAG (p.Gly2274Alafs) http://identifiers.org/clinvar/141510 ^@ NM_000059.3(BRCA2):c.1428_1431delTCAT (p.His477Glnfs) http://identifiers.org/clinvar/141511 ^@ NM_000051.3(ATM):c.2882delT (p.Leu961Cysfs) http://identifiers.org/clinvar/141512 ^@ NM_000465.3(BARD1):c.438G>T (p.Trp146Cys) http://identifiers.org/clinvar/141513 ^@ NM_001042492.2(NF1):c.2033dupC (p.Ile679Aspfs) http://identifiers.org/clinvar/141514 ^@ NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) http://identifiers.org/clinvar/141515 ^@ NM_000038.5(APC):c.220+2T>A http://identifiers.org/clinvar/141516 ^@ NM_001128425.1(MUTYH):c.965G>T (p.Ser322Ile) http://identifiers.org/clinvar/141517 ^@ NM_000249.3(MLH1):c.2110G>C (p.Val704Leu) http://identifiers.org/clinvar/141518 ^@ NM_000051.3(ATM):c.2522A>G (p.Asp841Gly) http://identifiers.org/clinvar/141519 ^@ NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) http://identifiers.org/clinvar/141520 ^@ NM_000051.3(ATM):c.8665G>C (p.Asp2889His) http://identifiers.org/clinvar/141521 ^@ NM_000038.5(APC):c.4478C>T (p.Thr1493Met) http://identifiers.org/clinvar/141522 ^@ NM_000051.3(ATM):c.3284G>A (p.Arg1095Lys) http://identifiers.org/clinvar/141523 ^@ NM_000535.6(PMS2):c.823C>G (p.Gln275Glu) http://identifiers.org/clinvar/141524 ^@ NM_000038.5(APC):c.7858T>A (p.Phe2620Ile) http://identifiers.org/clinvar/141525 ^@ NM_000179.2(MSH6):c.535G>T (p.Ala179Ser) http://identifiers.org/clinvar/141526 ^@ NM_000548.4(TSC2):c.2257G>A (p.Ala753Thr) http://identifiers.org/clinvar/141527 ^@ NM_024675.3(PALB2):c.1037_1041delAAGAA (p.Lys346Thrfs) http://identifiers.org/clinvar/141528 ^@ NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) http://identifiers.org/clinvar/141529 ^@ NM_032043.2(BRIP1):c.3710C>T (p.Ser1237Phe) http://identifiers.org/clinvar/141530 ^@ NM_001042492.2(NF1):c.1261-4C>G http://identifiers.org/clinvar/141531 ^@ NM_001042492.2(NF1):c.1855A>G (p.Arg619Gly) http://identifiers.org/clinvar/141532 ^@ NM_058216.2(RAD51C):c.537C>A (p.His179Gln) http://identifiers.org/clinvar/141533 ^@ NM_005591.3(MRE11):c.1927-2A>G http://identifiers.org/clinvar/141534 ^@ NM_000051.3(ATM):c.3894dupT (p.Ala1299Cysfs) http://identifiers.org/clinvar/141535 ^@ NM_024675.3(PALB2):c.1364A>G (p.Asn455Ser) http://identifiers.org/clinvar/141536 ^@ NM_007294.3(BRCA1):c.5310_5311delGC (p.Pro1771Leufs) http://identifiers.org/clinvar/141537 ^@ NM_000059.3(BRCA2):c.5691G>T (p.Leu1897Phe) http://identifiers.org/clinvar/141538 ^@ NM_004360.4(CDH1):c.371G>A (p.Arg124His) http://identifiers.org/clinvar/141539 ^@ NM_000059.3(BRCA2):c.1993A>G (p.Thr665Ala) http://identifiers.org/clinvar/141540 ^@ NM_007294.3(BRCA1):c.3797G>T (p.Ser1266Ile) http://identifiers.org/clinvar/141541 ^@ NM_000535.6(PMS2):c.1424T>A (p.Val475Glu) http://identifiers.org/clinvar/141542 ^@ NM_005591.3(MRE11):c.923dupT (p.Met309Hisfs) http://identifiers.org/clinvar/141543 ^@ NM_000051.3(ATM):c.616A>C (p.Asn206His) http://identifiers.org/clinvar/141544 ^@ NM_005591.3(MRE11):c.1780A>G (p.Arg594Gly) http://identifiers.org/clinvar/141545 ^@ NM_032043.2(BRIP1):c.254C>T (p.Ser85Leu) http://identifiers.org/clinvar/141546 ^@ NM_000051.3(ATM):c.381delA (p.Val128Terfs) http://identifiers.org/clinvar/141547 ^@ NM_000546.5(TP53):c.221C>T (p.Ala74Val) http://identifiers.org/clinvar/141548 ^@ NM_000038.5(APC):c.5027G>C (p.Arg1676Thr) http://identifiers.org/clinvar/141549 ^@ NM_007294.3(BRCA1):c.766A>T (p.Arg256Trp) http://identifiers.org/clinvar/141550 ^@ NM_001042492.2(NF1):c.7737G>A (p.Met2579Ile) http://identifiers.org/clinvar/141551 ^@ NM_005591.3(MRE11):c.1883G>A (p.Arg628Lys) http://identifiers.org/clinvar/141552 ^@ NM_144997.5(FLCN):c.580C>T (p.Arg194Trp) http://identifiers.org/clinvar/141553 ^@ NM_007194.3(CHEK2):c.1212T>A (p.Tyr404Ter) http://identifiers.org/clinvar/141554 ^@ NM_024675.3(PALB2):c.3044C>T (p.Thr1015Ile) http://identifiers.org/clinvar/141555 ^@ NM_005732.3(RAD50):c.1456C>T (p.Arg486Cys) http://identifiers.org/clinvar/141556 ^@ NM_000051.3(ATM):c.8397delT (p.Gln2800Serfs) http://identifiers.org/clinvar/141557 ^@ NM_000051.3(ATM):c.7294A>T (p.Ile2432Phe) http://identifiers.org/clinvar/141558 ^@ NM_005591.3(MRE11):c.1609G>C (p.Ala537Pro) http://identifiers.org/clinvar/141559 ^@ NM_000051.3(ATM):c.7999A>G (p.Met2667Val) http://identifiers.org/clinvar/141560 ^@ NM_024675.3(PALB2):c.2964delA (p.Val989Terfs) http://identifiers.org/clinvar/141561 ^@ NM_000051.3(ATM):c.1379C>T (p.Thr460Met) http://identifiers.org/clinvar/141562 ^@ NM_000059.3(BRCA2):c.6997G>A (p.Val2333Ile) http://identifiers.org/clinvar/141563 ^@ NM_000059.3(BRCA2):c.7006C>G (p.Arg2336Gly) http://identifiers.org/clinvar/141564 ^@ NM_000059.3(BRCA2):c.9084_9086delAGC (p.Ala3029del) http://identifiers.org/clinvar/141565 ^@ NM_000059.3(BRCA2):c.7067T>A (p.Phe2356Tyr) http://identifiers.org/clinvar/141566 ^@ NM_000546.5(TP53):c.511G>A (p.Glu171Lys) http://identifiers.org/clinvar/141567 ^@ NM_000059.3(BRCA2):c.10033G>A (p.Ala3345Thr) http://identifiers.org/clinvar/141568 ^@ NM_000535.6(PMS2):c.164A>T (p.Asp55Val) http://identifiers.org/clinvar/141569 ^@ NM_000059.3(BRCA2):c.7049C>T (p.Thr2350Ile) http://identifiers.org/clinvar/141570 ^@ NM_004360.4(CDH1):c.1896C>T (p.His632=) http://identifiers.org/clinvar/141571 ^@ NM_000059.3(BRCA2):c.2947C>A (p.Pro983Thr) http://identifiers.org/clinvar/141572 ^@ NM_000059.3(BRCA2):c.5362dupT (p.Ser1788Phefs) http://identifiers.org/clinvar/141573 ^@ NM_000059.3(BRCA2):c.3411dupG (p.Gln1138Alafs) http://identifiers.org/clinvar/141574 ^@ NM_000038.5(APC):c.5501_5506delTCAGAG (p.Val1834_Arg1835del) http://identifiers.org/clinvar/141575 ^@ NM_000251.2(MSH2):c.2782T>G (p.Ser928Ala) http://identifiers.org/clinvar/141576 ^@ NM_032043.2(BRIP1):c.2725C>G (p.Leu909Val) http://identifiers.org/clinvar/141577 ^@ NM_000051.3(ATM):c.7596G>A (p.Met2532Ile) http://identifiers.org/clinvar/141578 ^@ NM_002878.3(RAD51D):c.196G>A (p.Val66Met) http://identifiers.org/clinvar/141579 ^@ NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) http://identifiers.org/clinvar/141580 ^@ NM_000051.3(ATM):c.2912A>T (p.Lys971Ile) http://identifiers.org/clinvar/141581 ^@ NM_000455.4(STK11):c.574delA (p.Ile192Serfs) http://identifiers.org/clinvar/141582 ^@ NM_000051.3(ATM):c.809G>A (p.Arg270Lys) http://identifiers.org/clinvar/141583 ^@ NM_000546.5(TP53):c.1120G>A (p.Gly374Ser) http://identifiers.org/clinvar/141584 ^@ NM_000059.3(BRCA2):c.7879A>G (p.Ile2627Val) http://identifiers.org/clinvar/141585 ^@ NM_000251.2(MSH2):c.2503A>G (p.Asn835Asp) http://identifiers.org/clinvar/141586 ^@ NM_001042492.2(NF1):c.4009C>T (p.Arg1337Trp) http://identifiers.org/clinvar/141587 ^@ NM_004360.4(CDH1):c.2201G>T (p.Arg734Ile) http://identifiers.org/clinvar/141588 ^@ NM_024675.3(PALB2):c.1042C>A (p.Gln348Lys) http://identifiers.org/clinvar/141589 ^@ NM_000179.2(MSH6):c.2600T>G (p.Val867Gly) http://identifiers.org/clinvar/141590 ^@ NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) http://identifiers.org/clinvar/141591 ^@ NM_000051.3(ATM):c.6571A>G (p.Arg2191Gly) http://identifiers.org/clinvar/141592 ^@ NM_004360.4(CDH1):c.208T>C (p.Ser70Pro) http://identifiers.org/clinvar/141593 ^@ NM_024675.3(PALB2):c.1160C>T (p.Ser387Phe) http://identifiers.org/clinvar/141594 ^@ NM_001042492.2(NF1):c.5257G>A (p.Val1753Ile) http://identifiers.org/clinvar/141595 ^@ NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) http://identifiers.org/clinvar/141596 ^@ NM_000051.3(ATM):c.5764C>T (p.Pro1922Ser) http://identifiers.org/clinvar/141597 ^@ NM_000546.5(TP53):c.107C>A (p.Pro36Gln) http://identifiers.org/clinvar/141598 ^@ NM_000314.6(PTEN):c.-1033_-1029del http://identifiers.org/clinvar/141599 ^@ NM_002485.4(NBN):c.715A>C (p.Ser239Arg) http://identifiers.org/clinvar/141600 ^@ NM_058195.3(CDKN2A):c.194-4G>C http://identifiers.org/clinvar/141601 ^@ NM_001042492.2(NF1):c.734G>A (p.Cys245Tyr) http://identifiers.org/clinvar/141602 ^@ NM_000075.3(CDK4):c.736C>T (p.Arg246Cys) http://identifiers.org/clinvar/141603 ^@ NM_000179.2(MSH6):c.3198_3199delTA (p.Tyr1066Terfs) http://identifiers.org/clinvar/141604 ^@ NM_000314.6(PTEN):c.-1080C>T http://identifiers.org/clinvar/141605 ^@ NM_000051.3(ATM):c.6673dupG (p.Ala2225Glyfs) http://identifiers.org/clinvar/141606 ^@ NM_000179.2(MSH6):c.984C>G (p.Ser328Arg) http://identifiers.org/clinvar/141607 ^@ NM_005591.3(MRE11):c.660-5T>G http://identifiers.org/clinvar/141608 ^@ NM_000465.3(BARD1):c.1448A>G (p.His483Arg) http://identifiers.org/clinvar/141609 ^@ NM_002878.3(RAD51D):c.431C>T (p.Ser144Phe) http://identifiers.org/clinvar/141610 ^@ NM_007294.3(BRCA1):c.4677G>C (p.Glu1559Asp) http://identifiers.org/clinvar/141611 ^@ NM_000038.5(APC):c.4447C>T (p.Pro1483Ser) http://identifiers.org/clinvar/141612 ^@ NM_002878.3(RAD51D):c.940T>C (p.Trp314Arg) http://identifiers.org/clinvar/141613 ^@ NM_007194.3(CHEK2):c.383C>T (p.Pro128Leu) http://identifiers.org/clinvar/141614 ^@ NM_001128425.1(MUTYH):c.1417G>A (p.Ala473Thr) http://identifiers.org/clinvar/141615 ^@ NM_007294.3(BRCA1):c.4466A>G (p.Lys1489Arg) http://identifiers.org/clinvar/141616 ^@ NM_002485.4(NBN):c.1202C>T (p.Pro401Leu) http://identifiers.org/clinvar/141617 ^@ NM_002485.4(NBN):c.1729G>T (p.Asp577Tyr) http://identifiers.org/clinvar/141618 ^@ NM_000038.5(APC):c.6639G>A (p.Met2213Ile) http://identifiers.org/clinvar/141619 ^@ NM_005732.3(RAD50):c.2791A>C (p.Asn931His) http://identifiers.org/clinvar/141620 ^@ NM_000314.6(PTEN):c.-771A>C http://identifiers.org/clinvar/141621 ^@ NM_004329.2(BMPR1A):c.1346T>C (p.Ile449Thr) http://identifiers.org/clinvar/141622 ^@ NM_000038.5(APC):c.4171A>G (p.Ser1391Gly) http://identifiers.org/clinvar/141623 ^@ NM_032043.2(BRIP1):c.3715T>C (p.Ser1239Pro) http://identifiers.org/clinvar/141624 ^@ NM_000465.3(BARD1):c.1571A>G (p.Asn524Ser) http://identifiers.org/clinvar/141625 ^@ NM_024675.3(PALB2):c.2104A>C (p.Ile702Leu) http://identifiers.org/clinvar/141626 ^@ NM_000059.3(BRCA2):c.8115C>G (p.Ser2705Arg) http://identifiers.org/clinvar/141627 ^@ NM_024675.3(PALB2):c.3267_3268delGT (p.Phe1090Serfs) http://identifiers.org/clinvar/141628 ^@ NM_000314.6(PTEN):c.-1070C>G http://identifiers.org/clinvar/141629 ^@ NM_000059.3(BRCA2):c.4090A>G (p.Ile1364Val) http://identifiers.org/clinvar/141630 ^@ NM_000059.3(BRCA2):c.4531G>A (p.Glu1511Lys) http://identifiers.org/clinvar/141631 ^@ NM_002485.4(NBN):c.123delC (p.Ser42Alafs) http://identifiers.org/clinvar/141632 ^@ NM_000249.3(MLH1):c.1401delC (p.Ser467Argfs) http://identifiers.org/clinvar/141633 ^@ NM_000059.3(BRCA2):c.8542G>C (p.Glu2848Gln) http://identifiers.org/clinvar/141634 ^@ NM_000051.3(ATM):c.9023G>A (p.Arg3008His) http://identifiers.org/clinvar/141635 ^@ NM_001042492.2(NF1):c.5523A>T (p.Gln1841His) http://identifiers.org/clinvar/141636 ^@ NM_000314.6(PTEN):c.551A>T (p.Asn184Ile) http://identifiers.org/clinvar/141637 ^@ NM_001042492.2(NF1):c.2224G>T (p.Ala742Ser) http://identifiers.org/clinvar/141638 ^@ NM_000051.3(ATM):c.7930G>C (p.Gly2644Arg) http://identifiers.org/clinvar/141639 ^@ NM_004360.4(CDH1):c.184G>A (p.Gly62Ser) http://identifiers.org/clinvar/141640 ^@ NM_001042492.2(NF1):c.2434A>C (p.Ile812Leu) http://identifiers.org/clinvar/141641 ^@ NM_001042492.2(NF1):c.3953G>A (p.Ser1318Asn) http://identifiers.org/clinvar/141642 ^@ NM_000059.3(BRCA2):c.9369C>A (p.Ser3123Arg) http://identifiers.org/clinvar/141643 ^@ NM_024675.3(PALB2):c.-2C>T http://identifiers.org/clinvar/141644 ^@ NM_000051.3(ATM):c.2495G>A (p.Arg832His) http://identifiers.org/clinvar/141645 ^@ NM_000038.5(APC):c.6606A>C (p.Lys2202Asn) http://identifiers.org/clinvar/141646 ^@ NM_005732.3(RAD50):c.1958C>A (p.Ser653Ter) http://identifiers.org/clinvar/141647 ^@ NM_000051.3(ATM):c.7517_7520delGAGA (p.Arg2506Thrfs) http://identifiers.org/clinvar/141648 ^@ NM_000059.3(BRCA2):c.1783C>T (p.His595Tyr) http://identifiers.org/clinvar/141649 ^@ NM_000051.3(ATM):c.1757A>T (p.Glu586Val) http://identifiers.org/clinvar/141650 ^@ NM_000535.6(PMS2):c.82T>C (p.Ser28Pro) http://identifiers.org/clinvar/141651 ^@ NM_000535.6(PMS2):c.2068A>C (p.Lys690Gln) http://identifiers.org/clinvar/141652 ^@ NM_000038.5(APC):c.2680_2686dupGTGTCAG (p.Ala896Glyfs) http://identifiers.org/clinvar/141653 ^@ NM_000051.3(ATM):c.3388G>T (p.Gly1130Ter) http://identifiers.org/clinvar/141654 ^@ NM_000314.6(PTEN):c.50_51delAA (p.Gln17Argfs) http://identifiers.org/clinvar/141655 ^@ NM_000535.6(PMS2):c.355G>T (p.Asp119Tyr) http://identifiers.org/clinvar/141656 ^@ NM_007294.3(BRCA1):c.2684A>G (p.Gln895Arg) http://identifiers.org/clinvar/141657 ^@ NM_000059.3(BRCA2):c.2522G>A (p.Arg841Lys) http://identifiers.org/clinvar/141658 ^@ NM_007294.3(BRCA1):c.135-5T>C http://identifiers.org/clinvar/141659 ^@ NM_000059.3(BRCA2):c.1994C>A (p.Thr665Lys) http://identifiers.org/clinvar/141660 ^@ NM_000535.6(PMS2):c.106A>C (p.Ser36Arg) http://identifiers.org/clinvar/141661 ^@ NM_004360.4(CDH1):c.387+1G>A http://identifiers.org/clinvar/141662 ^@ NM_000314.6(PTEN):c.-839C>G http://identifiers.org/clinvar/141663 ^@ NM_058216.2(RAD51C):c.620A>G (p.His207Arg) http://identifiers.org/clinvar/141664 ^@ NM_000535.6(PMS2):c.1557T>C (p.Tyr519=) http://identifiers.org/clinvar/141665 ^@ NM_000249.3(MLH1):c.-221C>G http://identifiers.org/clinvar/141666 ^@ NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) http://identifiers.org/clinvar/141667 ^@ NM_000179.2(MSH6):c.3312dupT (p.Gly1105Trpfs) http://identifiers.org/clinvar/141668 ^@ NM_005732.3(RAD50):c.3618+1G>A http://identifiers.org/clinvar/141669 ^@ NM_000249.3(MLH1):c.673A>G (p.Ser225Gly) http://identifiers.org/clinvar/141670 ^@ NM_000548.4(TSC2):c.1512C>G (p.Val504=) http://identifiers.org/clinvar/141671 ^@ NM_020975.4(RET):c.405C>T (p.Gly135=) http://identifiers.org/clinvar/141672 ^@ NM_000051.3(ATM):c.4776+2T>C http://identifiers.org/clinvar/141673 ^@ NM_004360.4(CDH1):c.574A>G (p.Ile192Val) http://identifiers.org/clinvar/141674 ^@ NM_004329.2(BMPR1A):c.826_827delGA (p.Glu276Asnfs) http://identifiers.org/clinvar/141675 ^@ NM_000249.3(MLH1):c.-288A>G http://identifiers.org/clinvar/141676 ^@ NM_000051.3(ATM):c.6975G>A (p.Ala2325=) http://identifiers.org/clinvar/141677 ^@ NM_005732.3(RAD50):c.2789_2792delTCAA (p.Ile930Thrfs) http://identifiers.org/clinvar/141678 ^@ NM_002382.4(MAX):c.233dupA (p.Asn78Lysfs) http://identifiers.org/clinvar/141679 ^@ NM_000179.2(MSH6):c.3802-6_3802-4delCTT http://identifiers.org/clinvar/141680 ^@ NM_001128425.1(MUTYH):c.685G>A (p.Gly229Ser) http://identifiers.org/clinvar/141681 ^@ NM_000038.5(APC):c.6782C>T (p.Pro2261Leu) http://identifiers.org/clinvar/141682 ^@ NM_001042492.2(NF1):c.2622_2623insA (p.Gly875Argfs) http://identifiers.org/clinvar/141683 ^@ NM_000535.6(PMS2):c.632G>A (p.Arg211Gln) http://identifiers.org/clinvar/141684 ^@ NM_000038.5(APC):c.4735A>G (p.Ile1579Val) http://identifiers.org/clinvar/141685 ^@ NM_001042492.2(NF1):c.2962A>G (p.Ile988Val) http://identifiers.org/clinvar/141686 ^@ NM_000051.3(ATM):c.251C>T (p.Ala84Val) http://identifiers.org/clinvar/141687 ^@ NM_000314.6(PTEN):c.-831G>A http://identifiers.org/clinvar/141688 ^@ NM_000038.5(APC):c.3625G>A (p.Glu1209Lys) http://identifiers.org/clinvar/141689 ^@ NM_002485.4(NBN):c.52C>A (p.Leu18Ile) http://identifiers.org/clinvar/141690 ^@ NM_000038.5(APC):c.8276G>A (p.Arg2759His) http://identifiers.org/clinvar/141691 ^@ NM_005732.3(RAD50):c.3327T>G (p.Ile1109Met) http://identifiers.org/clinvar/141692 ^@ NM_001042492.2(NF1):c.4249G>T (p.Ala1417Ser) http://identifiers.org/clinvar/141693 ^@ NM_004168.3(SDHA):c.63G>A (p.Ala21=) http://identifiers.org/clinvar/141694 ^@ NM_032043.2(BRIP1):c.820A>G (p.Thr274Ala) http://identifiers.org/clinvar/141695 ^@ NM_000059.3(BRCA2):c.7706G>A (p.Gly2569Asp) http://identifiers.org/clinvar/141696 ^@ NM_000051.3(ATM):c.4471T>C (p.Phe1491Leu) http://identifiers.org/clinvar/141697 ^@ NM_000059.3(BRCA2):c.429delT (p.Val144Leufs) http://identifiers.org/clinvar/141698 ^@ NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) http://identifiers.org/clinvar/141699 ^@ NM_000368.4(TSC1):c.1936A>G (p.Met646Val) http://identifiers.org/clinvar/141700 ^@ NM_000051.3(ATM):c.8187A>C (p.Gln2729His) http://identifiers.org/clinvar/141701 ^@ NM_005732.3(RAD50):c.821C>G (p.Ala274Gly) http://identifiers.org/clinvar/141702 ^@ NM_000465.3(BARD1):c.1921C>T (p.Arg641Ter) http://identifiers.org/clinvar/141703 ^@ NM_001128425.1(MUTYH):c.874C>T (p.Pro292Ser) http://identifiers.org/clinvar/141704 ^@ NM_000051.3(ATM):c.4198A>T (p.Lys1400Ter) http://identifiers.org/clinvar/141705 ^@ NM_005591.3(MRE11):c.1792G>T (p.Gly598Cys) http://identifiers.org/clinvar/141706 ^@ NM_144997.5(FLCN):c.943G>T (p.Glu315Ter) http://identifiers.org/clinvar/141707 ^@ NM_002878.3(RAD51D):c.911G>A (p.Gly304Asp) http://identifiers.org/clinvar/141708 ^@ NM_001128425.1(MUTYH):c.837C>A (p.Asn279Lys) http://identifiers.org/clinvar/141709 ^@ NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) http://identifiers.org/clinvar/141710 ^@ NM_004329.2(BMPR1A):c.253A>G (p.Ile85Val) http://identifiers.org/clinvar/141711 ^@ NM_001042492.2(NF1):c.4207G>A (p.Gly1403Ser) http://identifiers.org/clinvar/141712 ^@ NM_000179.2(MSH6):c.458-7delT http://identifiers.org/clinvar/141713 ^@ NM_000535.6(PMS2):c.961G>A (p.Val321Ile) http://identifiers.org/clinvar/141714 ^@ NM_000051.3(ATM):c.2446_2447delGCinsCT (p.Ala816Leu) http://identifiers.org/clinvar/141715 ^@ NM_000314.6(PTEN):c.36C>G (p.Asn12Lys) http://identifiers.org/clinvar/141716 ^@ NM_000535.6(PMS2):c.2194A>G (p.Thr732Ala) http://identifiers.org/clinvar/141717 ^@ NM_000314.6(PTEN):c.-930G>A http://identifiers.org/clinvar/141718 ^@ NM_007194.3(CHEK2):c.1513T>C (p.Ser505Pro) http://identifiers.org/clinvar/141719 ^@ NM_001042492.2(NF1):c.7343_7345delAAG (p.Glu2448del) http://identifiers.org/clinvar/141720 ^@ NM_005732.3(RAD50):c.1126A>G (p.Thr376Ala) http://identifiers.org/clinvar/141721 ^@ NM_000051.3(ATM):c.5858C>T (p.Thr1953Ile) http://identifiers.org/clinvar/141722 ^@ NM_032043.2(BRIP1):c.2615C>T (p.Ser872Leu) http://identifiers.org/clinvar/141723 ^@ NM_000059.3(BRCA2):c.6289A>G (p.Thr2097Ala) http://identifiers.org/clinvar/141724 ^@ NM_000455.4(STK11):c.952G>C (p.Ala318Pro) http://identifiers.org/clinvar/141725 ^@ NM_144997.5(FLCN):c.1269C>T (p.His423=) http://identifiers.org/clinvar/141726 ^@ NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) http://identifiers.org/clinvar/141727 ^@ NM_002485.4(NBN):c.940G>A (p.Val314Met) http://identifiers.org/clinvar/141728 ^@ NM_024675.3(PALB2):c.3542T>C (p.Phe1181Ser) http://identifiers.org/clinvar/141729 ^@ NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) http://identifiers.org/clinvar/141730 ^@ NM_005732.3(RAD50):c.2563G>T (p.Asp855Tyr) http://identifiers.org/clinvar/141731 ^@ NM_002485.4(NBN):c.1142delC (p.Pro381Glnfs) http://identifiers.org/clinvar/141732 ^@ NM_005732.3(RAD50):c.3507C>T (p.Ala1169=) http://identifiers.org/clinvar/141733 ^@ NM_000465.3(BARD1):c.1298A>G (p.His433Arg) http://identifiers.org/clinvar/141734 ^@ NM_000051.3(ATM):c.3381_3384delTCAG (p.Gln1128Lysfs) http://identifiers.org/clinvar/141735 ^@ NM_000038.5(APC):c.94A>G (p.Asn32Asp) http://identifiers.org/clinvar/141736 ^@ NM_000051.3(ATM):c.793A>G (p.Ile265Val) http://identifiers.org/clinvar/141737 ^@ NM_032043.2(BRIP1):c.2595delG (p.Gln866Serfs) http://identifiers.org/clinvar/141738 ^@ NM_024675.3(PALB2):c.563C>G (p.Ala188Gly) http://identifiers.org/clinvar/141739 ^@ NM_000465.3(BARD1):c.1409A>G (p.Asn470Ser) http://identifiers.org/clinvar/141740 ^@ NM_005359.5(SMAD4):c.175A>G (p.Thr59Ala) http://identifiers.org/clinvar/141741 ^@ NM_007294.3(BRCA1):c.1534C>G (p.Leu512Val) http://identifiers.org/clinvar/141742 ^@ NM_000051.3(ATM):c.790delT (p.Tyr264Ilefs) http://identifiers.org/clinvar/141743 ^@ NM_000251.2(MSH2):c.1601G>C (p.Arg534Pro) http://identifiers.org/clinvar/141744 ^@ NM_032043.2(BRIP1):c.2441G>A (p.Arg814His) http://identifiers.org/clinvar/141745 ^@ NM_000465.3(BARD1):c.26_40delACCGGCAGCCGAGGA (p.Asn9_Arg13del) http://identifiers.org/clinvar/141746 ^@ NM_005732.3(RAD50):c.661T>C (p.Cys221Arg) http://identifiers.org/clinvar/141747 ^@ NM_001042492.2(NF1):c.3604G>T (p.Ala1202Ser) http://identifiers.org/clinvar/141748 ^@ NM_000314.6(PTEN):c.-897C>G http://identifiers.org/clinvar/141749 ^@ NM_007194.3(CHEK2):c.350G>A (p.Arg117Lys) http://identifiers.org/clinvar/141750 ^@ NM_000051.3(ATM):c.646G>T (p.Ala216Ser) http://identifiers.org/clinvar/141751 ^@ NM_000179.2(MSH6):c.998C>T (p.Thr333Ile) http://identifiers.org/clinvar/141752 ^@ NM_000051.3(ATM):c.1053dupT (p.Ile352Tyrfs) http://identifiers.org/clinvar/141753 ^@ NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619Thrfs) http://identifiers.org/clinvar/141754 ^@ NM_032043.2(BRIP1):c.1652C>T (p.Ala551Val) http://identifiers.org/clinvar/141755 ^@ NM_024675.3(PALB2):c.72G>C (p.Leu24Phe) http://identifiers.org/clinvar/141756 ^@ NM_000546.5(TP53):c.808_817delTTTGAGGTGC (p.Phe270Valfs) http://identifiers.org/clinvar/141757 ^@ NM_000051.3(ATM):c.2386A>C (p.Asn796His) http://identifiers.org/clinvar/141758 ^@ NM_000251.2(MSH2):c.2459-3T>C http://identifiers.org/clinvar/141759 ^@ NM_004360.4(CDH1):c.646G>A (p.Val216Met) http://identifiers.org/clinvar/141760 ^@ NM_000051.3(ATM):c.8124T>A (p.Asp2708Glu) http://identifiers.org/clinvar/141761 ^@ NM_032043.2(BRIP1):c.628C>T (p.Pro210Ser) http://identifiers.org/clinvar/141762 ^@ NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) http://identifiers.org/clinvar/141763 ^@ NM_000051.3(ATM):c.2836A>G (p.Met946Val) http://identifiers.org/clinvar/141764 ^@ NM_000546.5(TP53):c.799C>T (p.Arg267Trp) http://identifiers.org/clinvar/141765 ^@ NM_000051.3(ATM):c.5637A>C (p.Gln1879His) http://identifiers.org/clinvar/141766 ^@ NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) http://identifiers.org/clinvar/141767 ^@ NM_004168.3(SDHA):c.146A>G (p.Asp49Gly) http://identifiers.org/clinvar/141768 ^@ NM_058216.2(RAD51C):c.905-2_905-1delAG http://identifiers.org/clinvar/141769 ^@ NM_000251.2(MSH2):c.2164G>A (p.Val722Ile) http://identifiers.org/clinvar/141770 ^@ NM_000251.2(MSH2):c.1386G>C (p.Gln462His) http://identifiers.org/clinvar/141771 ^@ NM_000314.6(PTEN):c.685T>A (p.Ser229Thr) http://identifiers.org/clinvar/141772 ^@ NM_000251.2(MSH2):c.-68-128G>A http://identifiers.org/clinvar/141773 ^@ NM_000465.3(BARD1):c.1475A>G (p.Tyr492Cys) http://identifiers.org/clinvar/141774 ^@ NM_000038.5(APC):c.3426T>A (p.Asn1142Lys) http://identifiers.org/clinvar/141775 ^@ NM_000051.3(ATM):c.8129A>G (p.Lys2710Arg) http://identifiers.org/clinvar/141776 ^@ NM_000038.5(APC):c.5424_5426delCAA (p.Asn1808del) http://identifiers.org/clinvar/141777 ^@ NM_000465.3(BARD1):c.1471G>A (p.Gly491Arg) http://identifiers.org/clinvar/141778 ^@ NM_000251.2(MSH2):c.167A>T (p.Glu56Val) http://identifiers.org/clinvar/141779 ^@ NM_024675.3(PALB2):c.424A>T (p.Lys142Ter) http://identifiers.org/clinvar/141780 ^@ NM_000059.3(BRCA2):c.9986A>G (p.Asn3329Ser) http://identifiers.org/clinvar/141781 ^@ NM_000546.5(TP53):c.859G>A (p.Glu287Lys) http://identifiers.org/clinvar/141782 ^@ NM_000059.3(BRCA2):c.5492T>C (p.Ile1831Thr) http://identifiers.org/clinvar/141783 ^@ NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) http://identifiers.org/clinvar/141784 ^@ NM_000465.3(BARD1):c.1615A>G (p.Met539Val) http://identifiers.org/clinvar/141785 ^@ NM_024675.3(PALB2):c.3146T>C (p.Met1049Thr) http://identifiers.org/clinvar/141786 ^@ NM_007294.3(BRCA1):c.3750G>C (p.Glu1250Asp) http://identifiers.org/clinvar/141787 ^@ NM_000059.3(BRCA2):c.8608C>T (p.Gln2870Ter) http://identifiers.org/clinvar/141788 ^@ NM_000059.3(BRCA2):c.5557delT (p.Cys1853Valfs) http://identifiers.org/clinvar/141789 ^@ NM_007294.3(BRCA1):c.4780C>G (p.Pro1594Ala) http://identifiers.org/clinvar/141790 ^@ NM_000059.3(BRCA2):c.4723G>A (p.Asp1575Asn) http://identifiers.org/clinvar/141791 ^@ NM_000059.3(BRCA2):c.2593G>C (p.Glu865Gln) http://identifiers.org/clinvar/141792 ^@ NM_000059.3(BRCA2):c.2660A>G (p.Glu887Gly) http://identifiers.org/clinvar/141793 ^@ NM_000059.3(BRCA2):c.1001A>G (p.His334Arg) http://identifiers.org/clinvar/141794 ^@ NM_007294.3(BRCA1):c.334A>G (p.Asn112Asp) http://identifiers.org/clinvar/141795 ^@ NM_000455.4(STK11):c.734+1G>T http://identifiers.org/clinvar/141796 ^@ NM_007294.3(BRCA1):c.5349G>A (p.Met1783Ile) http://identifiers.org/clinvar/141797 ^@ NM_000455.4(STK11):c.1109-5C>T http://identifiers.org/clinvar/141798 ^@ NM_000059.3(BRCA2):c.8902A>G (p.Thr2968Ala) http://identifiers.org/clinvar/141799 ^@ NM_000059.3(BRCA2):c.3176_3177delTG (p.Leu1059Glnfs) http://identifiers.org/clinvar/141800 ^@ NM_000051.3(ATM):c.5945A>G (p.Gln1982Arg) http://identifiers.org/clinvar/141801 ^@ NM_004360.4(CDH1):c.325A>C (p.Lys109Gln) http://identifiers.org/clinvar/141802 ^@ NM_004360.4(CDH1):c.2450C>T (p.Ala817Val) http://identifiers.org/clinvar/141803 ^@ NM_004360.4(CDH1):c.2572G>C (p.Asp858His) http://identifiers.org/clinvar/141804 ^@ NM_007294.3(BRCA1):c.5470A>G (p.Ile1824Val) http://identifiers.org/clinvar/141805 ^@ NM_004360.4(CDH1):c.724G>A (p.Val242Ile) http://identifiers.org/clinvar/141806 ^@ NM_007294.3(BRCA1):c.2396A>G (p.Asn799Ser) http://identifiers.org/clinvar/141807 ^@ NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) http://identifiers.org/clinvar/141808 ^@ NM_007294.3(BRCA1):c.2710G>C (p.Glu904Gln) http://identifiers.org/clinvar/141809 ^@ NM_000059.3(BRCA2):c.5650A>T (p.Ile1884Phe) http://identifiers.org/clinvar/141810 ^@ NM_004360.4(CDH1):c.1298A>G (p.Asp433Gly) http://identifiers.org/clinvar/141811 ^@ NM_000059.3(BRCA2):c.7777G>T (p.Gly2593Ter) http://identifiers.org/clinvar/141812 ^@ NM_032043.2(BRIP1):c.3505G>T (p.Asp1169Tyr) http://identifiers.org/clinvar/141813 ^@ NM_005591.3(MRE11):c.508C>T (p.Gln170Ter) http://identifiers.org/clinvar/141814 ^@ NM_000059.3(BRCA2):c.5444C>T (p.Thr1815Ile) http://identifiers.org/clinvar/141815 ^@ NM_000455.4(STK11):c.559G>A (p.Gly187Ser) http://identifiers.org/clinvar/141816 ^@ NM_002485.4(NBN):c.284A>G (p.Asp95Gly) http://identifiers.org/clinvar/141817 ^@ NM_007194.3(CHEK2):c.911T>C (p.Met304Thr) http://identifiers.org/clinvar/141818 ^@ NM_007194.3(CHEK2):c.1169A>C (p.Tyr390Ser) http://identifiers.org/clinvar/141819 ^@ NM_001042492.2(NF1):c.2022C>T (p.Ser674=) http://identifiers.org/clinvar/141820 ^@ NM_005732.3(RAD50):c.3122A>G (p.His1041Arg) http://identifiers.org/clinvar/141821 ^@ NM_000314.6(PTEN):c.-1287C>G http://identifiers.org/clinvar/141822 ^@ NM_000051.3(ATM):c.3778G>A (p.Val1260Met) http://identifiers.org/clinvar/141823 ^@ NM_058216.2(RAD51C):c.405-1G>C http://identifiers.org/clinvar/141824 ^@ NM_004168.3(SDHA):c.1776T>C (p.His592=) http://identifiers.org/clinvar/141825 ^@ NM_000051.3(ATM):c.4667A>G (p.Tyr1556Cys) http://identifiers.org/clinvar/141826 ^@ NM_000059.3(BRCA2):c.6737C>G (p.Pro2246Arg) http://identifiers.org/clinvar/141827 ^@ NM_032043.2(BRIP1):c.1189A>C (p.Asn397His) http://identifiers.org/clinvar/141828 ^@ NM_004360.4(CDH1):c.1178T>A (p.Ile393Asn) http://identifiers.org/clinvar/141829 ^@ NM_000465.3(BARD1):c.1406G>A (p.Cys469Tyr) http://identifiers.org/clinvar/141830 ^@ NM_001128425.1(MUTYH):c.376C>T (p.Arg126Trp) http://identifiers.org/clinvar/141831 ^@ NM_005591.3(MRE11):c.905A>G (p.His302Arg) http://identifiers.org/clinvar/141832 ^@ NM_000535.6(PMS2):c.2276-10A>G http://identifiers.org/clinvar/141833 ^@ NM_001128425.1(MUTYH):c.1306C>G (p.Leu436Val) http://identifiers.org/clinvar/141834 ^@ NM_004360.4(CDH1):c.1687G>T (p.Ala563Ser) http://identifiers.org/clinvar/141835 ^@ NM_058216.2(RAD51C):c.968T>G (p.Leu323Trp) http://identifiers.org/clinvar/141836 ^@ NM_000465.3(BARD1):c.2324_2325delTT (p.Leu775Argfs) http://identifiers.org/clinvar/141837 ^@ NM_001042492.2(NF1):c.5407A>G (p.Ile1803Val) http://identifiers.org/clinvar/141838 ^@ NM_032043.2(BRIP1):c.93+1G>T http://identifiers.org/clinvar/141839 ^@ NM_005591.3(MRE11):c.2070+5delA http://identifiers.org/clinvar/141840 ^@ NM_000051.3(ATM):c.8173G>C (p.Asp2725His) http://identifiers.org/clinvar/141841 ^@ NM_024675.3(PALB2):c.3476G>A (p.Trp1159Ter) http://identifiers.org/clinvar/141842 ^@ NM_005591.3(MRE11):c.758C>T (p.Pro253Leu) http://identifiers.org/clinvar/141843 ^@ NM_002878.3(RAD51D):c.166G>C (p.Val56Leu) http://identifiers.org/clinvar/141844 ^@ NM_001042492.2(NF1):c.7520C>T (p.Thr2507Ile) http://identifiers.org/clinvar/141845 ^@ NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?) http://identifiers.org/clinvar/141846 ^@ NM_000051.3(ATM):c.4227delC (p.Ser1411Alafs) http://identifiers.org/clinvar/141847 ^@ NM_000059.3(BRCA2):c.1880C>T (p.Ala627Val) http://identifiers.org/clinvar/141848 ^@ NM_000059.3(BRCA2):c.1279G>C (p.Asp427His) http://identifiers.org/clinvar/141849 ^@ NM_000455.4(STK11):c.250_252delAAG (p.Lys84del) http://identifiers.org/clinvar/141850 ^@ NM_000059.3(BRCA2):c.1078C>G (p.Pro360Ala) http://identifiers.org/clinvar/141851 ^@ NM_000455.4(STK11):c.1040C>G (p.Ala347Gly) http://identifiers.org/clinvar/141852 ^@ NM_000455.4(STK11):c.1238C>T (p.Pro413Leu) http://identifiers.org/clinvar/141853 ^@ NM_000059.3(BRCA2):c.5231G>T (p.Ser1744Ile) http://identifiers.org/clinvar/141854 ^@ NM_004360.4(CDH1):c.1684A>G (p.Thr562Ala) http://identifiers.org/clinvar/141855 ^@ NM_001042492.2(NF1):c.2553C>T (p.Cys851=) http://identifiers.org/clinvar/141856 ^@ NM_007194.3(CHEK2):c.1534C>G (p.Leu512Val) http://identifiers.org/clinvar/141857 ^@ NM_000059.3(BRCA2):c.2366A>G (p.Lys789Arg) http://identifiers.org/clinvar/141858 ^@ NM_001128425.1(MUTYH):c.1256C>A (p.Ala419Asp) http://identifiers.org/clinvar/141859 ^@ NM_002878.3(RAD51D):c.256A>T (p.Ile86Phe) http://identifiers.org/clinvar/141860 ^@ NM_024675.3(PALB2):c.2233A>G (p.Lys745Glu) http://identifiers.org/clinvar/141861 ^@ NM_032043.2(BRIP1):c.141delC (p.Thr48Glnfs) http://identifiers.org/clinvar/141862 ^@ NM_001128425.1(MUTYH):c.158-2A>G http://identifiers.org/clinvar/141863 ^@ NM_000059.3(BRCA2):c.5131G>A (p.Val1711Ile) http://identifiers.org/clinvar/141864 ^@ NM_000314.6(PTEN):c.-1137G>A http://identifiers.org/clinvar/141865 ^@ NM_144997.5(FLCN):c.499C>T (p.Gln167Ter) http://identifiers.org/clinvar/141866 ^@ NM_007194.3(CHEK2):c.279G>A (p.Trp93Ter) http://identifiers.org/clinvar/141867 ^@ NM_000059.3(BRCA2):c.1144A>C (p.Lys382Gln) http://identifiers.org/clinvar/141868 ^@ NM_000059.3(BRCA2):c.3775A>C (p.Ser1259Arg) http://identifiers.org/clinvar/141869 ^@ NM_000059.3(BRCA2):c.3329A>T (p.Glu1110Val) http://identifiers.org/clinvar/141870 ^@ NM_004360.4(CDH1):c.1024A>T (p.Thr342Ser) http://identifiers.org/clinvar/141871 ^@ NM_000535.6(PMS2):c.23+1G>T http://identifiers.org/clinvar/141872 ^@ NM_000059.3(BRCA2):c.5171_5172dupTA (p.Ala1725Terfs) http://identifiers.org/clinvar/141873 ^@ NM_000465.3(BARD1):c.1216C>G (p.Arg406Gly) http://identifiers.org/clinvar/141874 ^@ NM_000179.2(MSH6):c.25A>G (p.Ser9Gly) http://identifiers.org/clinvar/141875 ^@ NM_004168.3(SDHA):c.512G>A (p.Arg171His) http://identifiers.org/clinvar/141876 ^@ NM_004168.3(SDHA):c.667delG (p.Asp223Ilefs) http://identifiers.org/clinvar/141877 ^@ NM_005732.3(RAD50):c.1969+1G>A http://identifiers.org/clinvar/141878 ^@ NM_000314.6(PTEN):c.-1076G>C http://identifiers.org/clinvar/141879 ^@ NM_000051.3(ATM):c.839T>C (p.Ile280Thr) http://identifiers.org/clinvar/141880 ^@ NM_024675.3(PALB2):c.599delT (p.Leu200Terfs) http://identifiers.org/clinvar/141881 ^@ NM_000546.5(TP53):c.745A>T (p.Arg249Trp) http://identifiers.org/clinvar/141882 ^@ NM_058195.3(CDKN2A):c.193+5G>A http://identifiers.org/clinvar/141883 ^@ NM_003001.3(SDHC):c.292T>G (p.Ser98Ala) http://identifiers.org/clinvar/141884 ^@ NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) http://identifiers.org/clinvar/141885 ^@ NM_000179.2(MSH6):c.34C>A (p.Pro12Thr) http://identifiers.org/clinvar/141886 ^@ NM_000455.4(STK11):c.1036G>A (p.Gly346Ser) http://identifiers.org/clinvar/141887 ^@ NM_000051.3(ATM):c.1158delG (p.Lys387Argfs) http://identifiers.org/clinvar/141888 ^@ NM_002485.4(NBN):c.644G>A (p.Arg215Gln) http://identifiers.org/clinvar/141889 ^@ NM_001127500.2(MET):c.623A>G (p.Asp208Gly) http://identifiers.org/clinvar/141890 ^@ NM_024675.3(PALB2):c.2521A>G (p.Thr841Ala) http://identifiers.org/clinvar/141891 ^@ NM_000249.3(MLH1):c.979C>G (p.Gln327Glu) http://identifiers.org/clinvar/141892 ^@ NM_001042492.2(NF1):c.5839G>T (p.Glu1947Ter) http://identifiers.org/clinvar/141893 ^@ NM_000546.5(TP53):c.1015G>C (p.Glu339Gln) http://identifiers.org/clinvar/141894 ^@ NM_005591.3(MRE11):c.1226_1228delGAG (p.Gly409del) http://identifiers.org/clinvar/141895 ^@ NM_001042492.2(NF1):c.8041A>G (p.Ile2681Val) http://identifiers.org/clinvar/141896 ^@ NM_005732.3(RAD50):c.904G>T (p.Glu302Ter) http://identifiers.org/clinvar/141897 ^@ NM_000059.3(BRCA2):c.9206G>T (p.Cys3069Phe) http://identifiers.org/clinvar/141898 ^@ NM_004329.2(BMPR1A):c.989C>T (p.Ala330Val) http://identifiers.org/clinvar/141899 ^@ NM_000059.3(BRCA2):c.8332-3C>G http://identifiers.org/clinvar/141900 ^@ NM_007294.3(BRCA1):c.713A>G (p.His238Arg) http://identifiers.org/clinvar/141901 ^@ NM_000059.3(BRCA2):c.2312T>G (p.Leu771Ter) http://identifiers.org/clinvar/141902 ^@ NM_000455.4(STK11):c.290+4_290+7delAGTA http://identifiers.org/clinvar/141903 ^@ NM_007294.3(BRCA1):c.*1C>T http://identifiers.org/clinvar/141904 ^@ NM_000059.3(BRCA2):c.9981A>T (p.Lys3327Asn) http://identifiers.org/clinvar/141905 ^@ NM_005591.3(MRE11):c.1784-5A>G http://identifiers.org/clinvar/141906 ^@ NM_000059.3(BRCA2):c.1006G>A (p.Ala336Thr) http://identifiers.org/clinvar/141907 ^@ NM_000179.2(MSH6):c.394C>G (p.Gln132Glu) http://identifiers.org/clinvar/141908 ^@ NM_000179.2(MSH6):c.1007C>G (p.Thr336Ser) http://identifiers.org/clinvar/141909 ^@ NM_000051.3(ATM):c.3077G>A (p.Trp1026Ter) http://identifiers.org/clinvar/141910 ^@ NM_002878.3(RAD51D):c.712G>A (p.Ala238Thr) http://identifiers.org/clinvar/141911 ^@ NM_005591.3(MRE11):c.729G>C (p.Trp243Cys) http://identifiers.org/clinvar/141912 ^@ NM_005732.3(RAD50):c.1154G>A (p.Arg385His) http://identifiers.org/clinvar/141913 ^@ NM_000179.2(MSH6):c.369A>T (p.Lys123Asn) http://identifiers.org/clinvar/141914 ^@ NM_001042492.2(NF1):c.364C>T (p.His122Tyr) http://identifiers.org/clinvar/141915 ^@ NM_002485.4(NBN):c.1124+5A>T http://identifiers.org/clinvar/141916 ^@ NM_000179.2(MSH6):c.3832C>A (p.Pro1278Thr) http://identifiers.org/clinvar/141917 ^@ NM_000249.3(MLH1):c.-303C>T http://identifiers.org/clinvar/141918 ^@ NM_000179.2(MSH6):c.3476dupA (p.Tyr1159Terfs) http://identifiers.org/clinvar/141919 ^@ NM_000038.5(APC):c.4247G>A (p.Gly1416Asp) http://identifiers.org/clinvar/141920 ^@ NM_004360.4(CDH1):c.1423G>A (p.Val475Met) http://identifiers.org/clinvar/141921 ^@ NM_000051.3(ATM):c.6326G>A (p.Trp2109Ter) http://identifiers.org/clinvar/141922 ^@ NM_000455.4(STK11):c.316C>T (p.Arg106Trp) http://identifiers.org/clinvar/141923 ^@ NM_000535.6(PMS2):c.2276-3delT http://identifiers.org/clinvar/141924 ^@ NM_000179.2(MSH6):c.3689C>G (p.Ala1230Gly) http://identifiers.org/clinvar/141925 ^@ NM_001128425.1(MUTYH):c.1393C>G (p.Pro465Ala) http://identifiers.org/clinvar/141926 ^@ NM_002485.4(NBN):c.1460G>A (p.Cys487Tyr) http://identifiers.org/clinvar/141927 ^@ NM_000038.5(APC):c.646C>G (p.Arg216Gly) http://identifiers.org/clinvar/141928 ^@ NM_000038.5(APC):c.449A>G (p.Lys150Arg) http://identifiers.org/clinvar/141929 ^@ NM_000465.3(BARD1):c.1793C>T (p.Thr598Ile) http://identifiers.org/clinvar/141930 ^@ NM_001042492.2(NF1):c.7435C>T (p.His2479Tyr) http://identifiers.org/clinvar/141931 ^@ NM_000038.5(APC):c.5690A>C (p.His1897Pro) http://identifiers.org/clinvar/141932 ^@ NM_000051.3(ATM):c.5063T>C (p.Ile1688Thr) http://identifiers.org/clinvar/141933 ^@ NM_001128425.1(MUTYH):c.1310G>A (p.Arg437Gln) http://identifiers.org/clinvar/141934 ^@ NM_000051.3(ATM):c.1336C>A (p.Gln446Lys) http://identifiers.org/clinvar/141935 ^@ NM_000465.3(BARD1):c.1672T>C (p.Ser558Pro) http://identifiers.org/clinvar/141936 ^@ NM_024675.3(PALB2):c.3449T>G (p.Leu1150Arg) http://identifiers.org/clinvar/141937 ^@ NM_000465.3(BARD1):c.2083G>A (p.Val695Ile) http://identifiers.org/clinvar/141938 ^@ NM_007294.3(BRCA1):c.727A>G (p.Asn243Asp) http://identifiers.org/clinvar/141939 ^@ NM_000051.3(ATM):c.1898+2T>G http://identifiers.org/clinvar/141940 ^@ NM_000051.3(ATM):c.4909+4C>T http://identifiers.org/clinvar/141941 ^@ NM_000051.3(ATM):c.4358T>G (p.Ile1453Arg) http://identifiers.org/clinvar/141942 ^@ NM_004329.2(BMPR1A):c.733T>A (p.Tyr245Asn) http://identifiers.org/clinvar/141943 ^@ NM_000038.5(APC):c.7389A>C (p.Glu2463Asp) http://identifiers.org/clinvar/141944 ^@ NM_000051.3(ATM):c.2354G>A (p.Arg785His) http://identifiers.org/clinvar/141945 ^@ NM_002878.3(RAD51D):c.865G>A (p.Gly289Ser) http://identifiers.org/clinvar/141946 ^@ NM_002485.4(NBN):c.1474C>T (p.Gln492Ter) http://identifiers.org/clinvar/141947 ^@ NM_032043.2(BRIP1):c.380-5A>G http://identifiers.org/clinvar/141948 ^@ NM_001128425.1(MUTYH):c.482A>T (p.Asp161Val) http://identifiers.org/clinvar/141949 ^@ NM_000314.6(PTEN):c.-868G>C http://identifiers.org/clinvar/141950 ^@ NM_007294.3(BRCA1):c.2657C>G (p.Ser886Cys) http://identifiers.org/clinvar/141951 ^@ NM_004360.4(CDH1):c.2549_2550delCC (p.Ser850Phefs) http://identifiers.org/clinvar/141952 ^@ NM_000059.3(BRCA2):c.6607G>T (p.Val2203Phe) http://identifiers.org/clinvar/141953 ^@ NM_000059.3(BRCA2):c.11G>A (p.Gly4Glu) http://identifiers.org/clinvar/141954 ^@ NM_000455.4(STK11):c.1183A>G (p.Thr395Ala) http://identifiers.org/clinvar/141955 ^@ NM_000059.3(BRCA2):c.1700C>T (p.Thr567Ile) http://identifiers.org/clinvar/141956 ^@ NM_000546.5(TP53):c.248C>A (p.Ala83Glu) http://identifiers.org/clinvar/141957 ^@ NM_000059.3(BRCA2):c.1046A>C (p.Lys349Thr) http://identifiers.org/clinvar/141958 ^@ NM_000051.3(ATM):c.2005T>C (p.Cys669Arg) http://identifiers.org/clinvar/141959 ^@ NM_000059.3(BRCA2):c.2449A>C (p.Lys817Gln) http://identifiers.org/clinvar/141960 ^@ NM_007294.3(BRCA1):c.4655dupA (p.Tyr1552Terfs) http://identifiers.org/clinvar/141961 ^@ NM_000059.3(BRCA2):c.2233A>G (p.Lys745Glu) http://identifiers.org/clinvar/141962 ^@ NM_000455.4(STK11):c.992G>A (p.Arg331Gln) http://identifiers.org/clinvar/141963 ^@ NM_000546.5(TP53):c.473G>A (p.Arg158His) http://identifiers.org/clinvar/141964 ^@ NM_000251.2(MSH2):c.-68-67G>C http://identifiers.org/clinvar/141965 ^@ NM_000455.4(STK11):c.650C>T (p.Pro217Leu) http://identifiers.org/clinvar/141966 ^@ NM_002485.4(NBN):c.183delT (p.Asp61Glufs) http://identifiers.org/clinvar/141967 ^@ NM_000546.5(TP53):c.256G>A (p.Ala86Thr) http://identifiers.org/clinvar/141968 ^@ NM_000051.3(ATM):c.8810T>C (p.Val2937Ala) http://identifiers.org/clinvar/141969 ^@ NM_002878.3(RAD51D):c.629C>T (p.Ala210Val) http://identifiers.org/clinvar/141970 ^@ NM_001128425.1(MUTYH):c.966C>G (p.Ser322Arg) http://identifiers.org/clinvar/141971 ^@ NM_002485.4(NBN):c.1575T>A (p.Asp525Glu) http://identifiers.org/clinvar/141972 ^@ NM_024675.3(PALB2):c.1748T>G (p.Leu583Trp) http://identifiers.org/clinvar/141973 ^@ NM_007194.3(CHEK2):c.817G>A (p.Glu273Lys) http://identifiers.org/clinvar/141974 ^@ NM_024675.3(PALB2):c.3307G>C (p.Val1103Leu) http://identifiers.org/clinvar/141975 ^@ NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) http://identifiers.org/clinvar/141976 ^@ NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) http://identifiers.org/clinvar/141977 ^@ NM_007194.3(CHEK2):c.556A>C (p.Asn186His) http://identifiers.org/clinvar/141978 ^@ NM_000251.2(MSH2):c.-68-121T>C http://identifiers.org/clinvar/141979 ^@ NM_002485.4(NBN):c.1973A>G (p.Glu658Gly) http://identifiers.org/clinvar/141980 ^@ NM_000368.4(TSC1):c.941C>T (p.Thr314Met) http://identifiers.org/clinvar/141981 ^@ NM_032043.2(BRIP1):c.650G>T (p.Cys217Phe) http://identifiers.org/clinvar/141982 ^@ NM_001042492.2(NF1):c.1166A>G (p.His389Arg) http://identifiers.org/clinvar/141983 ^@ NM_000059.3(BRCA2):c.6428C>T (p.Ser2143Leu) http://identifiers.org/clinvar/141984 ^@ NM_004360.4(CDH1):c.371G>C (p.Arg124Pro) http://identifiers.org/clinvar/141985 ^@ NM_000059.3(BRCA2):c.4141_4143delAAA (p.Lys1381del) http://identifiers.org/clinvar/141986 ^@ NM_000059.3(BRCA2):c.2290G>C (p.Glu764Gln) http://identifiers.org/clinvar/141987 ^@ NM_000059.3(BRCA2):c.1381G>A (p.Glu461Lys) http://identifiers.org/clinvar/141988 ^@ NM_000546.5(TP53):c.391A>T (p.Asn131Tyr) http://identifiers.org/clinvar/141989 ^@ NM_000059.3(BRCA2):c.5583delA (p.Val1862Terfs) http://identifiers.org/clinvar/141990 ^@ NM_004360.4(CDH1):c.2398C>T (p.Arg800Cys) http://identifiers.org/clinvar/141991 ^@ NM_000455.4(STK11):c.1130C>T (p.Ala377Val) http://identifiers.org/clinvar/141992 ^@ NM_000051.3(ATM):c.3040G>A (p.Ala1014Thr) http://identifiers.org/clinvar/141993 ^@ NM_024675.3(PALB2):c.557A>T (p.Asn186Ile) http://identifiers.org/clinvar/141994 ^@ NM_001128425.1(MUTYH):c.451G>A (p.Gly151Arg) http://identifiers.org/clinvar/141995 ^@ NM_005591.3(MRE11):c.2042C>T (p.Ser681Leu) http://identifiers.org/clinvar/141996 ^@ NM_000249.3(MLH1):c.-279A>G http://identifiers.org/clinvar/141997 ^@ NM_001042492.2(NF1):c.7767G>C (p.Gln2589His) http://identifiers.org/clinvar/141998 ^@ NM_005591.3(MRE11):c.895A>T (p.Ile299Phe) http://identifiers.org/clinvar/141999 ^@ NM_058216.2(RAD51C):c.186_187delAA (p.Gln62Hisfs) http://identifiers.org/clinvar/142000 ^@ NM_000251.2(MSH2):c.-68-148C>G http://identifiers.org/clinvar/142001 ^@ NM_000179.2(MSH6):c.626_627+15delAGGTGGGACACGGCAAG http://identifiers.org/clinvar/142002 ^@ NM_007294.3(BRCA1):c.5371G>T (p.Val1791Leu) http://identifiers.org/clinvar/142003 ^@ NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) http://identifiers.org/clinvar/142004 ^@ NM_007294.3(BRCA1):c.301+1G>A http://identifiers.org/clinvar/142005 ^@ NM_000059.3(BRCA2):c.6818G>A (p.Arg2273Lys) http://identifiers.org/clinvar/142006 ^@ NM_000059.3(BRCA2):c.6143A>C (p.Asn2048Thr) http://identifiers.org/clinvar/142007 ^@ NM_000465.3(BARD1):c.216-14delT http://identifiers.org/clinvar/142008 ^@ NM_000535.6(PMS2):c.1264G>A (p.Glu422Lys) http://identifiers.org/clinvar/142009 ^@ NM_000535.6(PMS2):c.178G>T (p.Asp60Tyr) http://identifiers.org/clinvar/142010 ^@ NM_000038.5(APC):c.2476T>G (p.Leu826Val) http://identifiers.org/clinvar/142011 ^@ NM_004360.4(CDH1):c.808T>G (p.Ser270Ala) http://identifiers.org/clinvar/142012 ^@ NM_000546.5(TP53):c.644G>C (p.Ser215Thr) http://identifiers.org/clinvar/142013 ^@ NM_000051.3(ATM):c.361T>A (p.Leu121Ile) http://identifiers.org/clinvar/142014 ^@ NM_002485.4(NBN):c.224G>C (p.Gly75Ala) http://identifiers.org/clinvar/142015 ^@ NM_000038.5(APC):c.3691C>G (p.Leu1231Val) http://identifiers.org/clinvar/142016 ^@ NM_000038.5(APC):c.692T>C (p.Ile231Thr) http://identifiers.org/clinvar/142017 ^@ NM_000249.3(MLH1):c.36C>G (p.Asp12Glu) http://identifiers.org/clinvar/142018 ^@ NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) http://identifiers.org/clinvar/142019 ^@ NM_000059.3(BRCA2):c.5002G>A (p.Ala1668Thr) http://identifiers.org/clinvar/142020 ^@ NM_000059.3(BRCA2):c.6361G>A (p.Glu2121Lys) http://identifiers.org/clinvar/142021 ^@ NM_002485.4(NBN):c.-2C>A http://identifiers.org/clinvar/142022 ^@ NM_007194.3(CHEK2):c.1174G>C (p.Ala392Pro) http://identifiers.org/clinvar/142023 ^@ NM_000059.3(BRCA2):c.4373A>G (p.His1458Arg) http://identifiers.org/clinvar/142024 ^@ NM_004329.2(BMPR1A):c.1348G>A (p.Val450Met) http://identifiers.org/clinvar/142025 ^@ NM_000465.3(BARD1):c.1053G>C (p.Thr351=) http://identifiers.org/clinvar/142026 ^@ NM_000059.3(BRCA2):c.4957A>G (p.Thr1653Ala) http://identifiers.org/clinvar/142027 ^@ NM_000314.6(PTEN):c.48T>A (p.Tyr16Ter) http://identifiers.org/clinvar/142028 ^@ NM_007294.3(BRCA1):c.3535A>C (p.Lys1179Gln) http://identifiers.org/clinvar/142029 ^@ NM_004360.4(CDH1):c.1234G>A (p.Val412Ile) http://identifiers.org/clinvar/142030 ^@ NM_000059.3(BRCA2):c.3904A>G (p.Thr1302Ala) http://identifiers.org/clinvar/142031 ^@ NM_007294.3(BRCA1):c.3800T>C (p.Leu1267Ser) http://identifiers.org/clinvar/142032 ^@ NM_007194.3(CHEK2):c.1597A>G (p.Thr533Ala) http://identifiers.org/clinvar/142033 ^@ NM_000059.3(BRCA2):c.8314G>A (p.Glu2772Lys) http://identifiers.org/clinvar/142034 ^@ NM_000455.4(STK11):c.465-5C>T http://identifiers.org/clinvar/142035 ^@ NM_024675.3(PALB2):c.3257G>A (p.Arg1086Gln) http://identifiers.org/clinvar/142036 ^@ NM_000059.3(BRCA2):c.7507G>A (p.Val2503Ile) http://identifiers.org/clinvar/142037 ^@ NM_001042492.2(NF1):c.3498C>T (p.Gly1166=) http://identifiers.org/clinvar/142038 ^@ NM_000143.3(FH):c.105G>A (p.Ser35=) http://identifiers.org/clinvar/142039 ^@ NM_000051.3(ATM):c.3980T>G (p.Leu1327Ter) http://identifiers.org/clinvar/142040 ^@ NM_004360.4(CDH1):c.223T>C (p.Phe75Leu) http://identifiers.org/clinvar/142041 ^@ NM_007194.3(CHEK2):c.176C>A (p.Thr59Lys) http://identifiers.org/clinvar/142042 ^@ NM_000179.2(MSH6):c.3208G>T (p.Gly1070Cys) http://identifiers.org/clinvar/142043 ^@ NM_000051.3(ATM):c.3689A>G (p.Asn1230Ser) http://identifiers.org/clinvar/142044 ^@ NM_000038.5(APC):c.6637A>G (p.Met2213Val) http://identifiers.org/clinvar/142045 ^@ NM_005591.3(MRE11):c.2054A>G (p.Asp685Gly) http://identifiers.org/clinvar/142046 ^@ NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) http://identifiers.org/clinvar/142047 ^@ NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) http://identifiers.org/clinvar/142048 ^@ NM_024675.3(PALB2):c.1189A>T (p.Thr397Ser) http://identifiers.org/clinvar/142049 ^@ NM_007194.3(CHEK2):c.842A>G (p.Asn281Ser) http://identifiers.org/clinvar/142050 ^@ NM_000546.5(TP53):c.434T>C (p.Leu145Pro) http://identifiers.org/clinvar/142051 ^@ NM_000051.3(ATM):c.5910delA (p.Glu1971Argfs) http://identifiers.org/clinvar/142052 ^@ NM_000455.4(STK11):c.817G>A (p.Ala273Thr) http://identifiers.org/clinvar/142053 ^@ NM_024675.3(PALB2):c.1127G>C (p.Ser376Thr) http://identifiers.org/clinvar/142054 ^@ NM_000059.3(BRCA2):c.3494A>G (p.His1165Arg) http://identifiers.org/clinvar/142055 ^@ NM_000051.3(ATM):c.8546G>A (p.Arg2849Gln) http://identifiers.org/clinvar/142056 ^@ NM_017849.3(TMEM127):c.398A>G (p.His133Arg) http://identifiers.org/clinvar/142057 ^@ NM_000051.3(ATM):c.2921+1G>T http://identifiers.org/clinvar/142058 ^@ NM_000314.6(PTEN):c.-1083G>C http://identifiers.org/clinvar/142059 ^@ NM_001127500.2(MET):c.406G>A (p.Val136Ile) http://identifiers.org/clinvar/142060 ^@ NM_001127500.2(MET):c.2597T>C (p.Val866Ala) http://identifiers.org/clinvar/142061 ^@ NM_000077.4(CDKN2A):c.47_50delTGGC (p.Leu16Profs) http://identifiers.org/clinvar/142062 ^@ NM_000143.3(FH):c.208G>A (p.Ala70Thr) http://identifiers.org/clinvar/142063 ^@ NM_005591.3(MRE11):c.391G>A (p.Asp131Asn) http://identifiers.org/clinvar/142064 ^@ NM_001128425.1(MUTYH):c.42C>G (p.Ile14Met) http://identifiers.org/clinvar/142065 ^@ NM_005732.3(RAD50):c.3779G>A (p.Arg1260His) http://identifiers.org/clinvar/142066 ^@ NM_000535.6(PMS2):c.964G>A (p.Val322Ile) http://identifiers.org/clinvar/142067 ^@ NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) http://identifiers.org/clinvar/142068 ^@ NM_003002.3(SDHD):c.155C>A (p.Ser52Ter) http://identifiers.org/clinvar/142069 ^@ NM_001128425.1(MUTYH):c.1331A>G (p.His444Arg) http://identifiers.org/clinvar/142070 ^@ NM_024675.3(PALB2):c.2947A>T (p.Thr983Ser) http://identifiers.org/clinvar/142071 ^@ NM_000051.3(ATM):c.1601C>G (p.Pro534Arg) http://identifiers.org/clinvar/142072 ^@ NM_001042492.2(NF1):c.4859G>A (p.Gly1620Asp) http://identifiers.org/clinvar/142073 ^@ NM_000059.3(BRCA2):c.2999T>C (p.Ile1000Thr) http://identifiers.org/clinvar/142074 ^@ NM_000251.2(MSH2):c.2612A>G (p.Lys871Arg) http://identifiers.org/clinvar/142075 ^@ NM_000143.3(FH):c.580G>A (p.Ala194Thr) http://identifiers.org/clinvar/142076 ^@ NM_003000.2(SDHB):c.352G>T (p.Asp118Tyr) http://identifiers.org/clinvar/142077 ^@ NM_000143.3(FH):c.1000A>C (p.Ser334Arg) http://identifiers.org/clinvar/142078 ^@ NM_024675.3(PALB2):c.734C>T (p.Ala245Val) http://identifiers.org/clinvar/142079 ^@ NM_024675.3(PALB2):c.3492G>T (p.Trp1164Cys) http://identifiers.org/clinvar/142080 ^@ NM_001042492.2(NF1):c.3198-4T>C http://identifiers.org/clinvar/142081 ^@ NM_005732.3(RAD50):c.3844T>A (p.Tyr1282Asn) http://identifiers.org/clinvar/142082 ^@ NM_005732.3(RAD50):c.353T>C (p.Ile118Thr) http://identifiers.org/clinvar/142083 ^@ NM_032043.2(BRIP1):c.1114_1116delCTTinsAT (p.Leu372Ilefs) http://identifiers.org/clinvar/142084 ^@ NM_001042492.2(NF1):c.5426C>T (p.Pro1809Leu) http://identifiers.org/clinvar/142085 ^@ NM_002485.4(NBN):c.1866G>C (p.Lys622Asn) http://identifiers.org/clinvar/142086 ^@ NM_058216.2(RAD51C):c.379C>A (p.Pro127Thr) http://identifiers.org/clinvar/142087 ^@ NM_000059.3(BRCA2):c.2980G>A (p.Ala994Thr) http://identifiers.org/clinvar/142088 ^@ NM_000314.6(PTEN):c.1105G>A (p.Val369Ile) http://identifiers.org/clinvar/142089 ^@ NM_000051.3(ATM):c.7121A>C (p.Glu2374Ala) http://identifiers.org/clinvar/142090 ^@ NM_000051.3(ATM):c.1889T>C (p.Val630Ala) http://identifiers.org/clinvar/142091 ^@ NM_000075.3(CDK4):c.684-4A>T http://identifiers.org/clinvar/142092 ^@ NM_001128425.1(MUTYH):c.1477G>A (p.Val493Ile) http://identifiers.org/clinvar/142093 ^@ NM_058216.2(RAD51C):c.335G>C (p.Gly112Ala) http://identifiers.org/clinvar/142094 ^@ NM_002485.4(NBN):c.-2C>T http://identifiers.org/clinvar/142095 ^@ NM_000059.3(BRCA2):c.8954-1_8955delGTTinsAA http://identifiers.org/clinvar/142096 ^@ NM_000051.3(ATM):c.692A>G (p.His231Arg) http://identifiers.org/clinvar/142097 ^@ NM_000314.6(PTEN):c.-1079C>G http://identifiers.org/clinvar/142098 ^@ NM_004329.2(BMPR1A):c.559C>T (p.Arg187Cys) http://identifiers.org/clinvar/142099 ^@ NM_024675.3(PALB2):c.850dupA (p.Thr284Asnfs) http://identifiers.org/clinvar/142100 ^@ NM_001042492.2(NF1):c.1213A>G (p.Thr405Ala) http://identifiers.org/clinvar/142101 ^@ NM_000059.3(BRCA2):c.4147G>A (p.Asp1383Asn) http://identifiers.org/clinvar/142102 ^@ NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) http://identifiers.org/clinvar/142103 ^@ NM_000465.3(BARD1):c.1863G>T (p.Met621Ile) http://identifiers.org/clinvar/142104 ^@ NM_000051.3(ATM):c.5645G>A (p.Arg1882Gln) http://identifiers.org/clinvar/142105 ^@ NM_000546.5(TP53):c.1072G>A (p.Glu358Lys) http://identifiers.org/clinvar/142106 ^@ NM_032043.2(BRIP1):c.656G>A (p.Cys219Tyr) http://identifiers.org/clinvar/142107 ^@ NM_000051.3(ATM):c.5618G>T (p.Cys1873Phe) http://identifiers.org/clinvar/142108 ^@ NM_000059.3(BRCA2):c.5365A>G (p.Lys1789Glu) http://identifiers.org/clinvar/142109 ^@ NM_007294.3(BRCA1):c.3970A>T (p.Met1324Leu) http://identifiers.org/clinvar/142110 ^@ NM_000251.2(MSH2):c.1228G>T (p.Gly410Cys) http://identifiers.org/clinvar/142111 ^@ NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) http://identifiers.org/clinvar/142112 ^@ NM_000059.3(BRCA2):c.2558A>G (p.Gln853Arg) http://identifiers.org/clinvar/142113 ^@ NM_032043.2(BRIP1):c.2863A>C (p.Asn955His) http://identifiers.org/clinvar/142114 ^@ NM_007194.3(CHEK2):c.591delA (p.Val198Phefs) http://identifiers.org/clinvar/142115 ^@ NM_000455.4(STK11):c.842C>T (p.Pro281Leu) http://identifiers.org/clinvar/142116 ^@ NM_000249.3(MLH1):c.791A>T (p.His264Leu) http://identifiers.org/clinvar/142117 ^@ NM_000465.3(BARD1):c.2252G>A (p.Arg751Gln) http://identifiers.org/clinvar/142118 ^@ NM_032043.2(BRIP1):c.1226G>T (p.Ser409Ile) http://identifiers.org/clinvar/142119 ^@ NM_000465.3(BARD1):c.2192G>A (p.Arg731His) http://identifiers.org/clinvar/142120 ^@ NM_000059.3(BRCA2):c.6076A>G (p.Thr2026Ala) http://identifiers.org/clinvar/142121 ^@ NM_000051.3(ATM):c.7630-3_7630-2delCA http://identifiers.org/clinvar/142122 ^@ NM_007294.3(BRCA1):c.1488delT (p.Leu498Serfs) http://identifiers.org/clinvar/142123 ^@ NM_000465.3(BARD1):c.1868G>A (p.Gly623Glu) http://identifiers.org/clinvar/142124 ^@ NM_000314.6(PTEN):c.-835T>G http://identifiers.org/clinvar/142125 ^@ NM_002878.3(RAD51D):c.793G>A (p.Gly265Arg) http://identifiers.org/clinvar/142126 ^@ NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) http://identifiers.org/clinvar/142127 ^@ NM_032043.2(BRIP1):c.1650T>G (p.Ile550Met) http://identifiers.org/clinvar/142128 ^@ NM_000051.3(ATM):c.2414G>A (p.Arg805Gln) http://identifiers.org/clinvar/142129 ^@ NM_000251.2(MSH2):c.2564A>G (p.Gln855Arg) http://identifiers.org/clinvar/142130 ^@ NM_000051.3(ATM):c.936A>C (p.Leu312Phe) http://identifiers.org/clinvar/142131 ^@ NM_001128425.1(MUTYH):c.601A>G (p.Met201Val) http://identifiers.org/clinvar/142133 ^@ NM_024675.3(PALB2):c.584T>G (p.Ile195Arg) http://identifiers.org/clinvar/142134 ^@ NM_000546.5(TP53):c.770T>G (p.Leu257Arg) http://identifiers.org/clinvar/142135 ^@ NM_000465.3(BARD1):c.1933T>C (p.Cys645Arg) http://identifiers.org/clinvar/142136 ^@ NM_001128425.1(MUTYH):c.1114T>C (p.Ser372Pro) http://identifiers.org/clinvar/142137 ^@ NM_000051.3(ATM):c.3993+10C>T http://identifiers.org/clinvar/142138 ^@ NM_001128425.1(MUTYH):c.1465G>A (p.Ala489Thr) http://identifiers.org/clinvar/142139 ^@ NM_007194.3(CHEK2):c.252A>G (p.Glu84=) http://identifiers.org/clinvar/142140 ^@ NM_000051.3(ATM):c.1176C>G (p.Gly392=) http://identifiers.org/clinvar/142141 ^@ NM_000051.3(ATM):c.4777-20A>G http://identifiers.org/clinvar/142142 ^@ NM_000051.3(ATM):c.8742T>G (p.Ile2914Met) http://identifiers.org/clinvar/142143 ^@ NM_000249.3(MLH1):c.984_997delGCACATCGAGAGCA (p.His329Alafs) http://identifiers.org/clinvar/142144 ^@ NM_000546.5(TP53):c.916C>T (p.Arg306Ter) http://identifiers.org/clinvar/142145 ^@ NM_004360.4(CDH1):c.2253C>T (p.Asn751=) http://identifiers.org/clinvar/142146 ^@ NM_005591.3(MRE11):c.94A>G (p.Arg32Gly) http://identifiers.org/clinvar/142147 ^@ NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) http://identifiers.org/clinvar/142148 ^@ NM_000455.4(STK11):c.998G>A (p.Arg333His) http://identifiers.org/clinvar/142150 ^@ NM_005591.3(MRE11):c.1190A>C (p.His397Pro) http://identifiers.org/clinvar/142151 ^@ NM_007194.3(CHEK2):c.1053G>T (p.Glu351Asp) http://identifiers.org/clinvar/142152 ^@ NM_002485.4(NBN):c.1848A>G (p.Gln616=) http://identifiers.org/clinvar/142153 ^@ NM_005591.3(MRE11):c.1504C>T (p.Arg502Cys) http://identifiers.org/clinvar/142154 ^@ NM_058216.2(RAD51C):c.706-18T>C http://identifiers.org/clinvar/142155 ^@ NM_000179.2(MSH6):c.3656C>A (p.Thr1219Asn) http://identifiers.org/clinvar/142156 ^@ NM_000465.3(BARD1):c.346C>T (p.His116Tyr) http://identifiers.org/clinvar/142158 ^@ NM_000546.5(TP53):c.88_90delAAC (p.Asn30del) http://identifiers.org/clinvar/142159 ^@ NM_002878.3(RAD51D):c.494G>A (p.Arg165Gln) http://identifiers.org/clinvar/142160 ^@ NM_000038.5(APC):c.5998A>G (p.Ser2000Gly) http://identifiers.org/clinvar/142161 ^@ NM_000546.5(TP53):c.994-1G>A http://identifiers.org/clinvar/142162 ^@ NM_000051.3(ATM):c.3016A>G (p.Met1006Val) http://identifiers.org/clinvar/142163 ^@ NM_000249.3(MLH1):c.1309C>G (p.Pro437Ala) http://identifiers.org/clinvar/142164 ^@ NM_000051.3(ATM):c.5973A>C (p.Glu1991Asp) http://identifiers.org/clinvar/142165 ^@ NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser) http://identifiers.org/clinvar/142167 ^@ NM_000051.3(ATM):c.3994-2A>G http://identifiers.org/clinvar/142168 ^@ NM_000179.2(MSH6):c.2779dupA (p.Ile927Asnfs) http://identifiers.org/clinvar/142169 ^@ NM_000251.2(MSH2):c.1270C>T (p.His424Tyr) http://identifiers.org/clinvar/142170 ^@ NM_000465.3(BARD1):c.1693C>T (p.Arg565Cys) http://identifiers.org/clinvar/142171 ^@ NM_000051.3(ATM):c.2548G>T (p.Glu850Ter) http://identifiers.org/clinvar/142173 ^@ NM_005732.3(RAD50):c.2299G>A (p.Asp767Asn) http://identifiers.org/clinvar/142174 ^@ NM_000251.2(MSH2):c.297A>T (p.Arg99Ser) http://identifiers.org/clinvar/142175 ^@ NM_000179.2(MSH6):c.1673T>C (p.Val558Ala) http://identifiers.org/clinvar/142178 ^@ NM_032043.2(BRIP1):c.590C>T (p.Ser197Phe) http://identifiers.org/clinvar/142179 ^@ NM_032043.2(BRIP1):c.854A>G (p.His285Arg) http://identifiers.org/clinvar/142180 ^@ NM_000455.4(STK11):c.1120G>C (p.Glu374Gln) http://identifiers.org/clinvar/142181 ^@ NM_000179.2(MSH6):c.1364A>C (p.Asn455Thr) http://identifiers.org/clinvar/142182 ^@ NM_000051.3(ATM):c.7307+3_7307+4insGTTC http://identifiers.org/clinvar/142183 ^@ NM_000546.5(TP53):c.706T>G (p.Tyr236Asp) http://identifiers.org/clinvar/142184 ^@ NM_000465.3(BARD1):c.568G>A (p.Asp190Asn) http://identifiers.org/clinvar/142185 ^@ NM_002485.4(NBN):c.171+4T>C http://identifiers.org/clinvar/142186 ^@ NM_000455.4(STK11):c.1202G>A (p.Ser401Asn) http://identifiers.org/clinvar/142187 ^@ NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) http://identifiers.org/clinvar/142188 ^@ NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) http://identifiers.org/clinvar/142189 ^@ NM_000038.5(APC):c.423-3T>A http://identifiers.org/clinvar/142190 ^@ NM_005591.3(MRE11):c.482A>G (p.Lys161Arg) http://identifiers.org/clinvar/142191 ^@ NM_005732.3(RAD50):c.3146A>G (p.Gln1049Arg) http://identifiers.org/clinvar/142192 ^@ NM_058216.2(RAD51C):c.161A>C (p.Lys54Thr) http://identifiers.org/clinvar/142193 ^@ NM_002485.4(NBN):c.1871G>A (p.Arg624His) http://identifiers.org/clinvar/142194 ^@ NM_000051.3(ATM):c.2771G>A (p.Arg924Gln) http://identifiers.org/clinvar/142195 ^@ NM_007194.3(CHEK2):c.1286A>G (p.Glu429Gly) http://identifiers.org/clinvar/142196 ^@ NM_007194.3(CHEK2):c.428A>G (p.His143Arg) http://identifiers.org/clinvar/142197 ^@ NM_000038.5(APC):c.6386C>T (p.Ser2129Leu) http://identifiers.org/clinvar/142198 ^@ NM_000455.4(STK11):c.1012G>A (p.Val338Met) http://identifiers.org/clinvar/142199 ^@ NM_000038.5(APC):c.2004delC (p.Leu669Terfs) http://identifiers.org/clinvar/142201 ^@ NM_000038.5(APC):c.4765C>G (p.Arg1589Gly) http://identifiers.org/clinvar/142202 ^@ NM_000038.5(APC):c.3259_3260delCT (p.Leu1087Glnfs) http://identifiers.org/clinvar/142203 ^@ NM_002485.4(NBN):c.127C>T (p.Arg43Ter) http://identifiers.org/clinvar/142204 ^@ NM_000038.5(APC):c.3118A>T (p.Arg1040Trp) http://identifiers.org/clinvar/142205 ^@ NM_005732.3(RAD50):c.833G>A (p.Arg278Gln) http://identifiers.org/clinvar/142206 ^@ NM_000546.5(TP53):c.328C>T (p.Arg110Cys) http://identifiers.org/clinvar/142207 ^@ NM_000179.2(MSH6):c.4065_4066insTTGG (p.Ile1357Valfs) http://identifiers.org/clinvar/142208 ^@ NM_005591.3(MRE11):c.497C>T (p.Pro166Leu) http://identifiers.org/clinvar/142209 ^@ NM_007194.3(CHEK2):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/142210 ^@ NM_000179.2(MSH6):c.4054A>C (p.Lys1352Gln) http://identifiers.org/clinvar/142211 ^@ NM_000051.3(ATM):c.7328G>A (p.Arg2443Gln) http://identifiers.org/clinvar/142212 ^@ NM_000314.6(PTEN):c.1061C>T (p.Pro354Leu) http://identifiers.org/clinvar/142213 ^@ NM_005732.3(RAD50):c.2837A>T (p.Asp946Val) http://identifiers.org/clinvar/142214 ^@ NM_000038.5(APC):c.8161C>T (p.Arg2721Cys) http://identifiers.org/clinvar/142215 ^@ NM_000059.3(BRCA2):c.9364G>A (p.Ala3122Thr) http://identifiers.org/clinvar/142216 ^@ NM_000465.3(BARD1):c.308G>A (p.Ser103Asn) http://identifiers.org/clinvar/142217 ^@ NM_005591.3(MRE11):c.983T>G (p.Val328Gly) http://identifiers.org/clinvar/142218 ^@ NM_000179.2(MSH6):c.596C>T (p.Pro199Leu) http://identifiers.org/clinvar/142219 ^@ NM_000179.2(MSH6):c.-2G>T http://identifiers.org/clinvar/142220 ^@ NM_000314.6(PTEN):c.520T>A (p.Tyr174Asn) http://identifiers.org/clinvar/142221 ^@ NM_000051.3(ATM):c.8188C>A (p.Gln2730Lys) http://identifiers.org/clinvar/142222 ^@ NM_007194.3(CHEK2):c.1036C>T (p.Arg346Cys) http://identifiers.org/clinvar/142223 ^@ NM_000455.4(STK11):c.52A>C (p.Met18Leu) http://identifiers.org/clinvar/142224 ^@ NM_000051.3(ATM):c.1855A>C (p.Asn619His) http://identifiers.org/clinvar/142225 ^@ NM_000465.3(BARD1):c.659T>C (p.Leu220Ser) http://identifiers.org/clinvar/142226 ^@ NM_005732.3(RAD50):c.3626C>T (p.Ala1209Val) http://identifiers.org/clinvar/142227 ^@ NM_002485.4(NBN):c.278C>T (p.Ser93Leu) http://identifiers.org/clinvar/142228 ^@ NM_000059.3(BRCA2):c.5870T>C (p.Ile1957Thr) http://identifiers.org/clinvar/142229 ^@ NM_005591.3(MRE11):c.845+5G>A http://identifiers.org/clinvar/142230 ^@ NM_005732.3(RAD50):c.1294A>T (p.Ile432Leu) http://identifiers.org/clinvar/142231 ^@ NM_007194.3(CHEK2):c.61C>A (p.Pro21Thr) http://identifiers.org/clinvar/142232 ^@ NM_000179.2(MSH6):c.3014G>A (p.Arg1005Gln) http://identifiers.org/clinvar/142233 ^@ NM_000465.3(BARD1):c.946T>G (p.Leu316Val) http://identifiers.org/clinvar/142234 ^@ NM_000179.2(MSH6):c.3979dupA (p.Asn1327Lysfs) http://identifiers.org/clinvar/142235 ^@ NM_000179.2(MSH6):c.4075G>A (p.Glu1359Lys) http://identifiers.org/clinvar/142236 ^@ NM_000051.3(ATM):c.6508T>C (p.Tyr2170His) http://identifiers.org/clinvar/142237 ^@ NM_000051.3(ATM):c.433C>A (p.Leu145Ile) http://identifiers.org/clinvar/142238 ^@ NM_000038.5(APC):c.5274T>A (p.Ser1758=) http://identifiers.org/clinvar/142239 ^@ NM_004360.4(CDH1):c.670C>A (p.Arg224Ser) http://identifiers.org/clinvar/142240 ^@ NM_000038.5(APC):c.3205A>G (p.Arg1069Gly) http://identifiers.org/clinvar/142241 ^@ NM_000546.5(TP53):c.746G>A (p.Arg249Lys) http://identifiers.org/clinvar/142242 ^@ NM_002485.4(NBN):c.1591A>G (p.Ile531Val) http://identifiers.org/clinvar/142243 ^@ NM_000051.3(ATM):c.3919G>A (p.Gly1307Arg) http://identifiers.org/clinvar/142244 ^@ NM_000179.2(MSH6):c.1049C>T (p.Ala350Val) http://identifiers.org/clinvar/142245 ^@ NM_058216.2(RAD51C):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/142246 ^@ NM_000038.5(APC):c.4918C>T (p.Arg1640Trp) http://identifiers.org/clinvar/142247 ^@ NM_000465.3(BARD1):c.1127C>T (p.Ser376Leu) http://identifiers.org/clinvar/142248 ^@ NM_004329.2(BMPR1A):c.431-5G>A http://identifiers.org/clinvar/142249 ^@ NM_000051.3(ATM):c.8558C>T (p.Thr2853Met) http://identifiers.org/clinvar/142250 ^@ NM_000051.3(ATM):c.8850+4A>C http://identifiers.org/clinvar/142251 ^@ NM_000535.6(PMS2):c.2007-2A>C http://identifiers.org/clinvar/142252 ^@ NM_024675.3(PALB2):c.3286_3289delAACCins8 http://identifiers.org/clinvar/142253 ^@ NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) http://identifiers.org/clinvar/142254 ^@ NM_000051.3(ATM):c.3154-4G>A http://identifiers.org/clinvar/142255 ^@ NM_005732.3(RAD50):c.3880G>A (p.Asp1294Asn) http://identifiers.org/clinvar/142256 ^@ NM_007294.3(BRCA1):c.5498T>C (p.Val1833Ala) http://identifiers.org/clinvar/142257 ^@ NM_000535.6(PMS2):c.1379G>A (p.Gly460Asp) http://identifiers.org/clinvar/142258 ^@ NM_007294.3(BRCA1):c.3584A>G (p.His1195Arg) http://identifiers.org/clinvar/142259 ^@ NM_000314.6(PTEN):c.741dupA (p.Pro248Thrfs) http://identifiers.org/clinvar/142260 ^@ NM_000535.6(PMS2):c.2567T>G (p.Leu856Arg) http://identifiers.org/clinvar/142261 ^@ NM_000314.6(PTEN):c.314G>A (p.Cys105Tyr) http://identifiers.org/clinvar/142262 ^@ NM_002485.4(NBN):c.1550dupA (p.Asn517Lysfs) http://identifiers.org/clinvar/142263 ^@ NM_000314.6(PTEN):c.1066A>G (p.Asn356Asp) http://identifiers.org/clinvar/142264 ^@ NM_000179.2(MSH6):c.1376C>G (p.Ser459Cys) http://identifiers.org/clinvar/142265 ^@ NM_005732.3(RAD50):c.3824A>G (p.Glu1275Gly) http://identifiers.org/clinvar/142266 ^@ NM_007194.3(CHEK2):c.931G>A (p.Asp311Asn) http://identifiers.org/clinvar/142267 ^@ NM_000465.3(BARD1):c.2101C>G (p.Gln701Glu) http://identifiers.org/clinvar/142268 ^@ NM_000038.5(APC):c.4441G>A (p.Val1481Ile) http://identifiers.org/clinvar/142269 ^@ NM_000314.6(PTEN):c.737C>T (p.Pro246Leu) http://identifiers.org/clinvar/142270 ^@ NM_000179.2(MSH6):c.3197A>G (p.Tyr1066Cys) http://identifiers.org/clinvar/142271 ^@ NM_001128425.1(MUTYH):c.694A>G (p.Thr232Ala) http://identifiers.org/clinvar/142272 ^@ NM_000179.2(MSH6):c.1607G>A (p.Ser536Asn) http://identifiers.org/clinvar/142273 ^@ NM_000546.5(TP53):c.998G>A (p.Arg333His) http://identifiers.org/clinvar/142274 ^@ NM_000051.3(ATM):c.446T>A (p.Ile149Asn) http://identifiers.org/clinvar/142275 ^@ NM_005732.3(RAD50):c.1759A>C (p.Ile587Leu) http://identifiers.org/clinvar/142276 ^@ NM_000249.3(MLH1):c.1136A>G (p.Tyr379Cys) http://identifiers.org/clinvar/142277 ^@ NM_000251.2(MSH2):c.163C>G (p.Arg55Gly) http://identifiers.org/clinvar/142278 ^@ NM_000038.5(APC):c.848G>A (p.Arg283Gln) http://identifiers.org/clinvar/142279 ^@ NM_000251.2(MSH2):c.1530G>T (p.Gln510His) http://identifiers.org/clinvar/142280 ^@ NM_032043.2(BRIP1):c.2071A>C (p.Ile691Leu) http://identifiers.org/clinvar/142281 ^@ NM_000059.3(BRCA2):c.770A>C (p.Asn257Thr) http://identifiers.org/clinvar/142282 ^@ NM_000059.3(BRCA2):c.6938-15A>G http://identifiers.org/clinvar/142283 ^@ NM_000455.4(STK11):c.1168G>A (p.Val390Met) http://identifiers.org/clinvar/142285 ^@ NM_004360.4(CDH1):c.1118C>T (p.Pro373Leu) http://identifiers.org/clinvar/142286 ^@ NM_004360.4(CDH1):c.1433T>C (p.Leu478Pro) http://identifiers.org/clinvar/142287 ^@ NM_000314.6(PTEN):c.403A>G (p.Ile135Val) http://identifiers.org/clinvar/142288 ^@ NM_000059.3(BRCA2):c.2570dupT (p.Arg858Lysfs) http://identifiers.org/clinvar/142289 ^@ NM_000455.4(STK11):c.1147C>T (p.Arg383Cys) http://identifiers.org/clinvar/142290 ^@ NM_000059.3(BRCA2):c.6823G>A (p.Glu2275Lys) http://identifiers.org/clinvar/142291 ^@ NM_000059.3(BRCA2):c.7977-12T>C http://identifiers.org/clinvar/142292 ^@ NM_000455.4(STK11):c.1226G>A (p.Arg409Gln) http://identifiers.org/clinvar/142293 ^@ NM_000059.3(BRCA2):c.8099T>C (p.Ile2700Thr) http://identifiers.org/clinvar/142294 ^@ NM_004360.4(CDH1):c.49-3C>T http://identifiers.org/clinvar/142295 ^@ NM_000059.3(BRCA2):c.9435_9443delGTTTTCTGC (p.Phe3146_Ala3148del) http://identifiers.org/clinvar/142296 ^@ NM_002880.3(RAF1):c.1808T>C (p.Leu603Pro) http://identifiers.org/clinvar/142297 ^@ NM_007294.3(BRCA1):c.670+16G>A http://identifiers.org/clinvar/142298 ^@ NM_002880.3(RAF1):c.1922C>T (p.Thr641Met) http://identifiers.org/clinvar/142299 ^@ NM_002880.3(RAF1):c.709G>A (p.Ala237Thr) http://identifiers.org/clinvar/142300 ^@ NM_024675.3(PALB2):c.1481C>T (p.Thr494Ile) http://identifiers.org/clinvar/142301 ^@ NM_007294.3(BRCA1):c.4735C>G (p.Pro1579Ala) http://identifiers.org/clinvar/142302 ^@ NM_000455.4(STK11):c.464+20G>A http://identifiers.org/clinvar/142303 ^@ NM_007294.3(BRCA1):c.2638G>C (p.Glu880Gln) http://identifiers.org/clinvar/142304 ^@ NM_000455.4(STK11):c.290+7A>G http://identifiers.org/clinvar/142305 ^@ NM_000179.2(MSH6):c.650A>G (p.Asp217Gly) http://identifiers.org/clinvar/142306 ^@ NM_004360.4(CDH1):c.1244T>C (p.Ile415Thr) http://identifiers.org/clinvar/142307 ^@ NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) http://identifiers.org/clinvar/142308 ^@ NM_000059.3(BRCA2):c.10040T>C (p.Ile3347Thr) http://identifiers.org/clinvar/142309 ^@ NM_000059.3(BRCA2):c.3296C>A (p.Ser1099Ter) http://identifiers.org/clinvar/142310 ^@ NM_024675.3(PALB2):c.2027T>C (p.Ile676Thr) http://identifiers.org/clinvar/142311 ^@ NM_000251.2(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu) http://identifiers.org/clinvar/142312 ^@ NM_007294.3(BRCA1):c.4934G>C (p.Arg1645Thr) http://identifiers.org/clinvar/142313 ^@ NM_000059.3(BRCA2):c.5536A>G (p.Ile1846Val) http://identifiers.org/clinvar/142314 ^@ NM_004360.4(CDH1):c.-9C>T http://identifiers.org/clinvar/142315 ^@ NM_000059.3(BRCA2):c.6938-18A>G http://identifiers.org/clinvar/142316 ^@ NM_000059.3(BRCA2):c.9194_9195delTT (p.Phe3065Serfs) http://identifiers.org/clinvar/142317 ^@ NM_000455.4(STK11):c.608C>T (p.Pro203Leu) http://identifiers.org/clinvar/142318 ^@ NM_004360.4(CDH1):c.48+7C>T http://identifiers.org/clinvar/142319 ^@ NM_000455.4(STK11):c.618G>A (p.Ala206=) http://identifiers.org/clinvar/142320 ^@ NM_000546.5(TP53):c.542G>A (p.Arg181His) http://identifiers.org/clinvar/142321 ^@ NM_004360.4(CDH1):c.1685C>G (p.Thr562Arg) http://identifiers.org/clinvar/142322 ^@ NM_000051.3(ATM):c.2647A>G (p.Asn883Asp) http://identifiers.org/clinvar/142323 ^@ NM_000038.5(APC):c.1214G>A (p.Arg405Gln) http://identifiers.org/clinvar/142324 ^@ NM_000546.5(TP53):c.848G>A (p.Arg283His) http://identifiers.org/clinvar/142325 ^@ NM_005732.3(RAD50):c.366G>C (p.Lys122Asn) http://identifiers.org/clinvar/142326 ^@ NM_007194.3(CHEK2):c.449T>G (p.Val150Gly) http://identifiers.org/clinvar/142327 ^@ NM_000179.2(MSH6):c.2926C>T (p.Arg976Cys) http://identifiers.org/clinvar/142328 ^@ NM_024675.3(PALB2):c.2619T>G (p.Ser873Arg) http://identifiers.org/clinvar/142329 ^@ NM_004329.2(BMPR1A):c.371G>A (p.Cys124Tyr) http://identifiers.org/clinvar/142330 ^@ NM_004360.4(CDH1):c.48+16T>C http://identifiers.org/clinvar/142331 ^@ NM_007294.3(BRCA1):c.1636A>G (p.Met546Val) http://identifiers.org/clinvar/142332 ^@ NM_000546.5(TP53):c.907A>G (p.Ser303Gly) http://identifiers.org/clinvar/142333 ^@ NM_005591.3(MRE11):c.1852A>G (p.Met618Val) http://identifiers.org/clinvar/142334 ^@ NM_007294.3(BRCA1):c.4799dupT (p.Leu1600Phefs) http://identifiers.org/clinvar/142335 ^@ NM_000251.2(MSH2):c.1053G>C (p.Met351Ile) http://identifiers.org/clinvar/142336 ^@ NM_000465.3(BARD1):c.1835A>T (p.Asp612Val) http://identifiers.org/clinvar/142337 ^@ NM_000546.5(TP53):c.447_459delCACACCCCCGCCC (p.Thr150Alafs) http://identifiers.org/clinvar/142338 ^@ NM_004360.4(CDH1):c.2390A>G (p.Tyr797Cys) http://identifiers.org/clinvar/142339 ^@ NM_000051.3(ATM):c.3281A>G (p.Asn1094Ser) http://identifiers.org/clinvar/142340 ^@ NM_000465.3(BARD1):c.415A>G (p.Lys139Glu) http://identifiers.org/clinvar/142341 ^@ NM_000251.2(MSH2):c.2178G>C (p.Met726Ile) http://identifiers.org/clinvar/142342 ^@ NM_007194.3(CHEK2):c.663C>G (p.Ile221Met) http://identifiers.org/clinvar/142343 ^@ NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter) http://identifiers.org/clinvar/142344 ^@ NM_005591.3(MRE11):c.1286T>C (p.Val429Ala) http://identifiers.org/clinvar/142345 ^@ NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) http://identifiers.org/clinvar/142346 ^@ NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) http://identifiers.org/clinvar/142348 ^@ NM_000051.3(ATM):c.1703G>A (p.Arg568Lys) http://identifiers.org/clinvar/142349 ^@ NM_000249.3(MLH1):c.539T>C (p.Val180Ala) http://identifiers.org/clinvar/142350 ^@ NM_000051.3(ATM):c.8164C>G (p.Leu2722Val) http://identifiers.org/clinvar/142351 ^@ NM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter) http://identifiers.org/clinvar/142352 ^@ NM_007194.3(CHEK2):c.319+2T>A http://identifiers.org/clinvar/142353 ^@ NM_000038.5(APC):c.52A>G (p.Met18Val) http://identifiers.org/clinvar/142354 ^@ NM_000051.3(ATM):c.1110C>G (p.Tyr370Ter) http://identifiers.org/clinvar/142355 ^@ NM_000051.3(ATM):c.6976-2A>C http://identifiers.org/clinvar/142356 ^@ NM_001128425.1(MUTYH):c.10C>G (p.Leu4Val) http://identifiers.org/clinvar/142357 ^@ NM_004360.4(CDH1):c.1501G>A (p.Val501Met) http://identifiers.org/clinvar/142358 ^@ NM_032043.2(BRIP1):c.1643A>G (p.Tyr548Cys) http://identifiers.org/clinvar/142359 ^@ NM_000051.3(ATM):c.1685A>G (p.Asn562Ser) http://identifiers.org/clinvar/142360 ^@ NM_000179.2(MSH6):c.448C>T (p.Pro150Ser) http://identifiers.org/clinvar/142361 ^@ NM_007194.3(CHEK2):c.1582G>A (p.Glu528Lys) http://identifiers.org/clinvar/142362 ^@ NM_002485.4(NBN):c.584+3A>G http://identifiers.org/clinvar/142363 ^@ NM_004360.4(CDH1):c.2399G>A (p.Arg800His) http://identifiers.org/clinvar/142364 ^@ NM_000251.2(MSH2):c.792+2T>C http://identifiers.org/clinvar/142365 ^@ NM_002485.4(NBN):c.1285T>G (p.Tyr429Asp) http://identifiers.org/clinvar/142366 ^@ NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) http://identifiers.org/clinvar/142367 ^@ NM_002485.4(NBN):c.509C>T (p.Pro170Leu) http://identifiers.org/clinvar/142368 ^@ NM_007194.3(CHEK2):c.1567C>G (p.Arg523Gly) http://identifiers.org/clinvar/142369 ^@ NM_001128425.1(MUTYH):c.125A>G (p.Asn42Ser) http://identifiers.org/clinvar/142370 ^@ NM_005591.3(MRE11):c.471G>A (p.Met157Ile) http://identifiers.org/clinvar/142371 ^@ NM_007194.3(CHEK2):c.497A>G (p.Asn166Ser) http://identifiers.org/clinvar/142372 ^@ NM_000251.2(MSH2):c.367-5C>T http://identifiers.org/clinvar/142373 ^@ NM_000465.3(BARD1):c.2104A>G (p.Ile702Val) http://identifiers.org/clinvar/142374 ^@ NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) http://identifiers.org/clinvar/142375 ^@ NM_007194.3(CHEK2):c.1003G>A (p.Val335Met) http://identifiers.org/clinvar/142376 ^@ NM_007194.3(CHEK2):c.949A>G (p.Lys317Glu) http://identifiers.org/clinvar/142377 ^@ NM_000455.4(STK11):c.464+4C>T http://identifiers.org/clinvar/142378 ^@ NM_000051.3(ATM):c.8353G>A (p.Asp2785Asn) http://identifiers.org/clinvar/142379 ^@ NM_004329.2(BMPR1A):c.352C>G (p.Leu118Val) http://identifiers.org/clinvar/142380 ^@ NM_007194.3(CHEK2):c.704A>G (p.Lys235Arg) http://identifiers.org/clinvar/142381 ^@ NM_000546.5(TP53):c.1100+13A>G http://identifiers.org/clinvar/142382 ^@ NM_000455.4(STK11):c.297T>G (p.Ile99Met) http://identifiers.org/clinvar/142383 ^@ NM_000059.3(BRCA2):c.3556G>A (p.Val1186Ile) http://identifiers.org/clinvar/142384 ^@ NM_000455.4(STK11):c.464+14G>A http://identifiers.org/clinvar/142385 ^@ NM_000059.3(BRCA2):c.1352G>A (p.Ser451Asn) http://identifiers.org/clinvar/142386 ^@ NM_000546.5(TP53):c.217G>A (p.Val73Met) http://identifiers.org/clinvar/142389 ^@ NM_058216.2(RAD51C):c.1063T>C (p.Cys355Arg) http://identifiers.org/clinvar/142390 ^@ NM_032043.2(BRIP1):c.299T>C (p.Met100Thr) http://identifiers.org/clinvar/142391 ^@ NM_000059.3(BRCA2):c.9234C>T (p.Val3078=) http://identifiers.org/clinvar/142392 ^@ NM_000455.4(STK11):c.464+17G>A http://identifiers.org/clinvar/142393 ^@ NM_000455.4(STK11):c.464+19G>A http://identifiers.org/clinvar/142394 ^@ NM_000455.4(STK11):c.598-11C>T http://identifiers.org/clinvar/142395 ^@ NM_007294.3(BRCA1):c.5481G>A (p.Met1827Ile) http://identifiers.org/clinvar/142396 ^@ NM_000059.3(BRCA2):c.796T>C (p.Phe266Leu) http://identifiers.org/clinvar/142397 ^@ NM_000314.6(PTEN):c.210-7_210-3del5 http://identifiers.org/clinvar/142398 ^@ NM_000059.3(BRCA2):c.9593G>A (p.Cys3198Tyr) http://identifiers.org/clinvar/142399 ^@ NM_000455.4(STK11):c.464+11G>A http://identifiers.org/clinvar/142400 ^@ NM_000465.3(BARD1):c.1153G>T (p.Asp385Tyr) http://identifiers.org/clinvar/142401 ^@ NM_000465.3(BARD1):c.614A>G (p.Lys205Arg) http://identifiers.org/clinvar/142402 ^@ NM_001128425.1(MUTYH):c.1009G>A (p.Gly337Arg) http://identifiers.org/clinvar/142403 ^@ NM_024675.3(PALB2):c.2257C>T (p.Arg753Ter) http://identifiers.org/clinvar/142404 ^@ NM_000455.4(STK11):c.1265_1267delGCA (p.Ser422del) http://identifiers.org/clinvar/142405 ^@ NM_005732.3(RAD50):c.1378G>A (p.Val460Met) http://identifiers.org/clinvar/142406 ^@ NM_007194.3(CHEK2):c.1012C>T (p.Leu338Phe) http://identifiers.org/clinvar/142407 ^@ NM_000051.3(ATM):c.4267T>C (p.Cys1423Arg) http://identifiers.org/clinvar/142408 ^@ NM_024675.3(PALB2):c.226delA (p.Ile76Tyrfs) http://identifiers.org/clinvar/142410 ^@ NM_000455.4(STK11):c.464+10C>T http://identifiers.org/clinvar/142411 ^@ NM_000455.4(STK11):c.464+12G>A http://identifiers.org/clinvar/142412 ^@ NM_024675.3(PALB2):c.1258C>T (p.Gln420Ter) http://identifiers.org/clinvar/142413 ^@ NM_000179.2(MSH6):c.3203G>C (p.Arg1068Pro) http://identifiers.org/clinvar/142414 ^@ NM_000546.5(TP53):c.320A>C (p.Tyr107Ser) http://identifiers.org/clinvar/142415 ^@ NM_000051.3(ATM):c.7630-3C>G http://identifiers.org/clinvar/142416 ^@ NM_058216.2(RAD51C):c.1096C>T (p.Arg366Trp) http://identifiers.org/clinvar/142417 ^@ NM_005732.3(RAD50):c.1972A>G (p.Met658Val) http://identifiers.org/clinvar/142418 ^@ NM_000051.3(ATM):c.8624A>G (p.Asn2875Ser) http://identifiers.org/clinvar/142419 ^@ NM_000455.4(STK11):c.464+13G>A http://identifiers.org/clinvar/142420 ^@ NM_000455.4(STK11):c.464+18G>A http://identifiers.org/clinvar/142421 ^@ NM_000535.6(PMS2):c.2356C>A (p.Leu786Met) http://identifiers.org/clinvar/142422 ^@ NM_000059.3(BRCA2):c.2524G>C (p.Val842Leu) http://identifiers.org/clinvar/142423 ^@ NM_000314.6(PTEN):c.802-2A>T http://identifiers.org/clinvar/142424 ^@ NM_007294.3(BRCA1):c.5147A>G (p.Tyr1716Cys) http://identifiers.org/clinvar/142425 ^@ NM_005591.3(MRE11):c.1667A>G (p.Asn556Ser) http://identifiers.org/clinvar/142426 ^@ NM_000179.2(MSH6):c.491A>C (p.His164Pro) http://identifiers.org/clinvar/142427 ^@ NM_005591.3(MRE11):c.1238A>G (p.Asn413Ser) http://identifiers.org/clinvar/142428 ^@ NM_007294.3(BRCA1):c.3596C>T (p.Ala1199Val) http://identifiers.org/clinvar/142429 ^@ NM_058216.2(RAD51C):c.1027-3C>G http://identifiers.org/clinvar/142430 ^@ NM_007194.3(CHEK2):c.904G>A (p.Glu302Lys) http://identifiers.org/clinvar/142431 ^@ NM_000546.5(TP53):c.322G>A (p.Gly108Ser) http://identifiers.org/clinvar/142432 ^@ NM_024675.3(PALB2):c.18G>T (p.Gly6=) http://identifiers.org/clinvar/142433 ^@ NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) http://identifiers.org/clinvar/142434 ^@ NM_000051.3(ATM):c.1610C>A (p.Pro537His) http://identifiers.org/clinvar/142435 ^@ NM_004360.4(CDH1):c.2204C>T (p.Ala735Val) http://identifiers.org/clinvar/142436 ^@ NM_000465.3(BARD1):c.97G>C (p.Ala33Pro) http://identifiers.org/clinvar/142437 ^@ NM_004360.4(CDH1):c.2380G>A (p.Val794Ile) http://identifiers.org/clinvar/142438 ^@ NM_005732.3(RAD50):c.2091C>T (p.Val697=) http://identifiers.org/clinvar/142439 ^@ NM_000249.3(MLH1):c.1064C>T (p.Pro355Leu) http://identifiers.org/clinvar/142440 ^@ NM_001128425.1(MUTYH):c.1484G>A (p.Arg495His) http://identifiers.org/clinvar/142441 ^@ NM_005732.3(RAD50):c.2670G>A (p.Gln890=) http://identifiers.org/clinvar/142442 ^@ NM_000038.5(APC):c.7786T>G (p.Ser2596Ala) http://identifiers.org/clinvar/142443 ^@ NM_000455.4(STK11):c.614C>T (p.Ala205Val) http://identifiers.org/clinvar/142444 ^@ NM_000059.3(BRCA2):c.2667T>C (p.Asn889=) http://identifiers.org/clinvar/142445 ^@ NM_007194.3(CHEK2):c.1489G>A (p.Asp497Asn) http://identifiers.org/clinvar/142446 ^@ NM_000051.3(ATM):c.3530G>C (p.Cys1177Ser) http://identifiers.org/clinvar/142447 ^@ NM_000535.6(PMS2):c.1399G>A (p.Val467Ile) http://identifiers.org/clinvar/142448 ^@ NM_007194.3(CHEK2):c.707T>C (p.Leu236Pro) http://identifiers.org/clinvar/142449 ^@ NM_005591.3(MRE11):c.239G>T (p.Arg80Ile) http://identifiers.org/clinvar/142450 ^@ NM_000465.3(BARD1):c.253G>T (p.Val85Leu) http://identifiers.org/clinvar/142451 ^@ NM_000465.3(BARD1):c.1967G>A (p.Gly656Asp) http://identifiers.org/clinvar/142452 ^@ NM_000314.6(PTEN):c.598T>G (p.Phe200Val) http://identifiers.org/clinvar/142453 ^@ NM_058216.2(RAD51C):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/142454 ^@ NM_000465.3(BARD1):c.1054G>C (p.Val352Leu) http://identifiers.org/clinvar/142455 ^@ NM_004360.4(CDH1):c.41_46dupTGCTGC (p.Leu15_Gln16insLeuLeu) http://identifiers.org/clinvar/142456 ^@ NM_000465.3(BARD1):c.2129A>T (p.Asp710Val) http://identifiers.org/clinvar/142457 ^@ NM_000038.5(APC):c.6679G>T (p.Gly2227Cys) http://identifiers.org/clinvar/142458 ^@ NM_032043.2(BRIP1):c.317G>A (p.Arg106His) http://identifiers.org/clinvar/142459 ^@ NM_000038.5(APC):c.473A>T (p.Tyr158Phe) http://identifiers.org/clinvar/142460 ^@ NM_000051.3(ATM):c.6718G>C (p.Asp2240His) http://identifiers.org/clinvar/142461 ^@ NM_000535.6(PMS2):c.1551C>A (p.Ser517Arg) http://identifiers.org/clinvar/142462 ^@ NM_004360.4(CDH1):c.387+5G>A http://identifiers.org/clinvar/142463 ^@ NM_007194.3(CHEK2):c.958A>G (p.Lys320Glu) http://identifiers.org/clinvar/142464 ^@ NM_000251.2(MSH2):c.209C>T (p.Ala70Val) http://identifiers.org/clinvar/142465 ^@ NM_024675.3(PALB2):c.3320T>C (p.Leu1107Pro) http://identifiers.org/clinvar/142466 ^@ NM_000038.5(APC):c.6249A>G (p.Ile2083Met) http://identifiers.org/clinvar/142467 ^@ NM_000465.3(BARD1):c.575C>A (p.Ser192Tyr) http://identifiers.org/clinvar/142468 ^@ NM_024675.3(PALB2):c.10C>T (p.Pro4Ser) http://identifiers.org/clinvar/142469 ^@ NM_004360.4(CDH1):c.8C>G (p.Pro3Arg) http://identifiers.org/clinvar/142470 ^@ NM_000059.3(BRCA2):c.2341A>C (p.Asn781His) http://identifiers.org/clinvar/142471 ^@ NM_001128425.1(MUTYH):c.1310G>T (p.Arg437Leu) http://identifiers.org/clinvar/142472 ^@ NM_000051.3(ATM):c.4703A>G (p.His1568Arg) http://identifiers.org/clinvar/142473 ^@ NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) http://identifiers.org/clinvar/142474 ^@ NM_005591.3(MRE11):c.247T>G (p.Cys83Gly) http://identifiers.org/clinvar/142475 ^@ NM_000051.3(ATM):c.7927A>G (p.Lys2643Glu) http://identifiers.org/clinvar/142476 ^@ NM_005591.3(MRE11):c.469A>G (p.Met157Val) http://identifiers.org/clinvar/142478 ^@ NM_005591.3(MRE11):c.1858A>G (p.Ile620Val) http://identifiers.org/clinvar/142479 ^@ NM_007194.3(CHEK2):c.1510G>C (p.Glu504Gln) http://identifiers.org/clinvar/142480 ^@ NM_000546.5(TP53):c.328_339delCGTCTGGGCTTC (p.Arg110_Phe113del) http://identifiers.org/clinvar/142481 ^@ NM_000179.2(MSH6):c.3004G>A (p.Gly1002Ser) http://identifiers.org/clinvar/142482 ^@ NM_000179.2(MSH6):c.3190G>A (p.Ala1064Thr) http://identifiers.org/clinvar/142483 ^@ NM_000455.4(STK11):c.1160C>T (p.Pro387Leu) http://identifiers.org/clinvar/142484 ^@ NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) http://identifiers.org/clinvar/142485 ^@ NM_000038.5(APC):c.2442T>G (p.Phe814Leu) http://identifiers.org/clinvar/142486 ^@ NM_004329.2(BMPR1A):c.1324C>T (p.Arg442Cys) http://identifiers.org/clinvar/142487 ^@ NM_000051.3(ATM):c.8845G>A (p.Val2949Ile) http://identifiers.org/clinvar/142488 ^@ NM_024675.3(PALB2):c.997A>G (p.Thr333Ala) http://identifiers.org/clinvar/142489 ^@ NM_000465.3(BARD1):c.14G>C (p.Arg5Pro) http://identifiers.org/clinvar/142490 ^@ NM_000179.2(MSH6):c.622A>G (p.Met208Val) http://identifiers.org/clinvar/142491 ^@ NM_000535.6(PMS2):c.1480T>C (p.Ser494Pro) http://identifiers.org/clinvar/142492 ^@ NM_032043.2(BRIP1):c.485G>T (p.Arg162Leu) http://identifiers.org/clinvar/142493 ^@ NM_005732.3(RAD50):c.2348A>G (p.Glu783Gly) http://identifiers.org/clinvar/142494 ^@ NM_005732.3(RAD50):c.2464G>C (p.Asp822His) http://identifiers.org/clinvar/142495 ^@ NM_000179.2(MSH6):c.2827G>T (p.Asp943Tyr) http://identifiers.org/clinvar/142496 ^@ NM_000179.2(MSH6):c.2027A>G (p.Lys676Arg) http://identifiers.org/clinvar/142497 ^@ NM_002485.4(NBN):c.949A>G (p.Met317Val) http://identifiers.org/clinvar/142498 ^@ NM_000051.3(ATM):c.5879T>A (p.Ile1960Asn) http://identifiers.org/clinvar/142499 ^@ NM_000465.3(BARD1):c.1932_1933delAT (p.Cys645Terfs) http://identifiers.org/clinvar/142500 ^@ NM_000038.5(APC):c.6371_6374delTATC (p.Ser2125Aspfs) http://identifiers.org/clinvar/142501 ^@ NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) http://identifiers.org/clinvar/142502 ^@ NM_058216.2(RAD51C):c.835G>C (p.Ala279Pro) http://identifiers.org/clinvar/142503 ^@ NM_000051.3(ATM):c.2804C>T (p.Thr935Met) http://identifiers.org/clinvar/142504 ^@ NM_024675.3(PALB2):c.3296C>G (p.Thr1099Arg) http://identifiers.org/clinvar/142505 ^@ NM_005732.3(RAD50):c.2173C>T (p.Arg725Trp) http://identifiers.org/clinvar/142506 ^@ NM_005732.3(RAD50):c.3319A>G (p.Met1107Val) http://identifiers.org/clinvar/142507 ^@ NM_000051.3(ATM):c.439A>G (p.Lys147Glu) http://identifiers.org/clinvar/142508 ^@ NM_000179.2(MSH6):c.713C>A (p.Ser238Tyr) http://identifiers.org/clinvar/142509 ^@ NM_000179.2(MSH6):c.3489A>T (p.Glu1163Asp) http://identifiers.org/clinvar/142510 ^@ NM_058216.2(RAD51C):c.62C>T (p.Pro21Leu) http://identifiers.org/clinvar/142511 ^@ NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln) http://identifiers.org/clinvar/142512 ^@ NM_005591.3(MRE11):c.463C>T (p.Arg155Cys) http://identifiers.org/clinvar/142513 ^@ NM_000535.6(PMS2):c.938A>G (p.Tyr313Cys) http://identifiers.org/clinvar/142514 ^@ NM_032043.2(BRIP1):c.804T>G (p.Tyr268Ter) http://identifiers.org/clinvar/142515 ^@ NM_005732.3(RAD50):c.574C>T (p.Leu192Phe) http://identifiers.org/clinvar/142516 ^@ NM_000251.2(MSH2):c.965G>T (p.Gly322Val) http://identifiers.org/clinvar/142517 ^@ NM_000051.3(ATM):c.5690T>G (p.Phe1897Cys) http://identifiers.org/clinvar/142518 ^@ NM_004360.4(CDH1):c.1801_1803delTTC (p.Phe602del) http://identifiers.org/clinvar/142519 ^@ NM_000038.5(APC):c.4216C>T (p.Gln1406Ter) http://identifiers.org/clinvar/142520 ^@ NM_000059.3(BRCA2):c.8042C>G (p.Thr2681Arg) http://identifiers.org/clinvar/142521 ^@ NM_002485.4(NBN):c.1520A>G (p.His507Arg) http://identifiers.org/clinvar/142522 ^@ NM_000051.3(ATM):c.670A>G (p.Lys224Glu) http://identifiers.org/clinvar/142523 ^@ NM_005591.3(MRE11):c.1334A>G (p.Gln445Arg) http://identifiers.org/clinvar/142524 ^@ NM_007194.3(CHEK2):c.499G>A (p.Gly167Arg) http://identifiers.org/clinvar/142525 ^@ NM_000179.2(MSH6):c.698C>G (p.Pro233Arg) http://identifiers.org/clinvar/142526 ^@ NM_000051.3(ATM):c.2909T>A (p.Leu970Gln) http://identifiers.org/clinvar/142527 ^@ NM_000059.3(BRCA2):c.4695G>T (p.Lys1565Asn) http://identifiers.org/clinvar/142528 ^@ NM_005732.3(RAD50):c.1353T>A (p.Ser451Arg) http://identifiers.org/clinvar/142529 ^@ NM_032043.2(BRIP1):c.2542C>A (p.Arg848Ser) http://identifiers.org/clinvar/142530 ^@ NM_000251.2(MSH2):c.1343C>G (p.Ser448Cys) http://identifiers.org/clinvar/142531 ^@ NM_000051.3(ATM):c.8205_8206insAA (p.Asn2736Lysfs) http://identifiers.org/clinvar/142532 ^@ NM_000051.3(ATM):c.1030A>T (p.Asn344Tyr) http://identifiers.org/clinvar/142533 ^@ NM_007194.3(CHEK2):c.1216C>T (p.Arg406Cys) http://identifiers.org/clinvar/142534 ^@ NM_058216.2(RAD51C):c.97C>T (p.Gln33Ter) http://identifiers.org/clinvar/142535 ^@ NM_000051.3(ATM):c.5753G>C (p.Arg1918Thr) http://identifiers.org/clinvar/142536 ^@ NM_000546.5(TP53):c.1009C>T (p.Arg337Cys) http://identifiers.org/clinvar/142537 ^@ NM_000455.4(STK11):c.1151G>A (p.Arg384Gln) http://identifiers.org/clinvar/142538 ^@ NM_000251.2(MSH2):c.-68-93C>T http://identifiers.org/clinvar/142539 ^@ NM_000251.2(MSH2):c.900G>A (p.Met300Ile) http://identifiers.org/clinvar/142540 ^@ NM_024675.3(PALB2):c.661_662delGTinsTA (p.Val221Ter) http://identifiers.org/clinvar/142541 ^@ NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) http://identifiers.org/clinvar/142542 ^@ NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr) http://identifiers.org/clinvar/142543 ^@ NM_000051.3(ATM):c.5233A>C (p.Thr1745Pro) http://identifiers.org/clinvar/142544 ^@ NM_058216.2(RAD51C):c.158delC (p.Ser53Leufs) http://identifiers.org/clinvar/142545 ^@ NM_000465.3(BARD1):c.1975A>G (p.Arg659Gly) http://identifiers.org/clinvar/142546 ^@ NM_004360.4(CDH1):c.394G>A (p.Val132Ile) http://identifiers.org/clinvar/142547 ^@ NM_000059.3(BRCA2):c.1466C>G (p.Ser489Cys) http://identifiers.org/clinvar/142548 ^@ NM_004329.2(BMPR1A):c.1037A>G (p.His346Arg) http://identifiers.org/clinvar/142549 ^@ NM_000251.2(MSH2):c.675_678delAGAA (p.Arg227Lysfs) http://identifiers.org/clinvar/142551 ^@ NM_032043.2(BRIP1):c.2576-1G>A http://identifiers.org/clinvar/142552 ^@ NM_000546.5(TP53):c.1079G>T (p.Gly360Val) http://identifiers.org/clinvar/142554 ^@ NM_007194.3(CHEK2):c.1526C>T (p.Pro509Leu) http://identifiers.org/clinvar/142555 ^@ NM_032043.2(BRIP1):c.2380-3T>A http://identifiers.org/clinvar/142556 ^@ NM_005732.3(RAD50):c.1717dupA (p.Gln575Thrfs) http://identifiers.org/clinvar/142557 ^@ NM_000251.2(MSH2):c.-68-117C>A http://identifiers.org/clinvar/142558 ^@ NM_000051.3(ATM):c.1956T>G (p.Phe652Leu) http://identifiers.org/clinvar/142559 ^@ NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) http://identifiers.org/clinvar/142560 ^@ NM_000455.4(STK11):c.661C>T (p.Pro221Ser) http://identifiers.org/clinvar/142561 ^@ NM_000535.6(PMS2):c.1243G>A (p.Val415Met) http://identifiers.org/clinvar/142562 ^@ NM_000546.5(TP53):c.105G>C (p.Leu35Phe) http://identifiers.org/clinvar/142563 ^@ NM_000179.2(MSH6):c.4077_4080dupATTA (p.Ter1361Ilefs) http://identifiers.org/clinvar/142564 ^@ NM_000465.3(BARD1):c.1180A>G (p.Thr394Ala) http://identifiers.org/clinvar/142565 ^@ NM_004360.4(CDH1):c.2387G>A (p.Arg796Gln) http://identifiers.org/clinvar/142566 ^@ NM_005359.5(SMAD4):c.1447+4dupA http://identifiers.org/clinvar/142567 ^@ NM_000051.3(ATM):c.5081C>G (p.Ala1694Gly) http://identifiers.org/clinvar/142568 ^@ NM_032043.2(BRIP1):c.3508C>G (p.Leu1170Val) http://identifiers.org/clinvar/142569 ^@ NM_000535.6(PMS2):c.2033T>C (p.Ile678Thr) http://identifiers.org/clinvar/142570 ^@ NM_000051.3(ATM):c.6403_6404insCT (p.Leu2135Profs) http://identifiers.org/clinvar/142571 ^@ NM_000465.3(BARD1):c.2075T>C (p.Ile692Thr) http://identifiers.org/clinvar/142572 ^@ NM_000535.6(PMS2):c.2412G>C (p.Lys804Asn) http://identifiers.org/clinvar/142573 ^@ NM_032043.2(BRIP1):c.2247A>T (p.Lys749Asn) http://identifiers.org/clinvar/142574 ^@ NM_000038.5(APC):c.426_427delAT (p.Leu143Alafs) http://identifiers.org/clinvar/142575 ^@ NM_000051.3(ATM):c.8432delA (p.Lys2811Serfs) http://identifiers.org/clinvar/142576 ^@ NM_000535.6(PMS2):c.2156A>G (p.Gln719Arg) http://identifiers.org/clinvar/142577 ^@ NM_000535.6(PMS2):c.877A>G (p.Asn293Asp) http://identifiers.org/clinvar/142578 ^@ NM_004360.4(CDH1):c.304G>A (p.Ala102Thr) http://identifiers.org/clinvar/142579 ^@ NM_007194.3(CHEK2):c.445G>A (p.Glu149Lys) http://identifiers.org/clinvar/142580 ^@ NM_000251.2(MSH2):c.123_124insTTCT (p.Tyr43Phefs) http://identifiers.org/clinvar/142582 ^@ NM_005732.3(RAD50):c.1495A>G (p.Thr499Ala) http://identifiers.org/clinvar/142583 ^@ NM_001128425.1(MUTYH):c.1323G>A (p.Glu441=) http://identifiers.org/clinvar/142584 ^@ NM_007194.3(CHEK2):c.1013T>G (p.Leu338Arg) http://identifiers.org/clinvar/142585 ^@ NM_058216.2(RAD51C):c.1090A>G (p.Ser364Gly) http://identifiers.org/clinvar/142586 ^@ NM_024675.3(PALB2):c.3350+5G>A http://identifiers.org/clinvar/142587 ^@ NM_000251.2(MSH2):c.860G>C (p.Gly287Ala) http://identifiers.org/clinvar/142588 ^@ NM_000059.3(BRCA2):c.9493A>G (p.Thr3165Ala) http://identifiers.org/clinvar/142589 ^@ NM_005591.3(MRE11):c.981A>G (p.Lys327=) http://identifiers.org/clinvar/142590 ^@ NM_001128425.1(MUTYH):c.1013A>G (p.Gln338Arg) http://identifiers.org/clinvar/142591 ^@ NM_024675.3(PALB2):c.2931dupA (p.Val978Serfs) http://identifiers.org/clinvar/142592 ^@ NM_004360.4(CDH1):c.440C>G (p.Pro147Arg) http://identifiers.org/clinvar/142593 ^@ NM_000051.3(ATM):c.1236-3_1236-2del http://identifiers.org/clinvar/142594 ^@ NM_005732.3(RAD50):c.2294A>G (p.Lys765Arg) http://identifiers.org/clinvar/142595 ^@ NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) http://identifiers.org/clinvar/142596 ^@ NM_007194.3(CHEK2):c.1462-2A>G http://identifiers.org/clinvar/142597 ^@ NM_000179.2(MSH6):c.1474_1476delATG (p.Met492del) http://identifiers.org/clinvar/142598 ^@ NM_005732.3(RAD50):c.3496C>T (p.Arg1166Trp) http://identifiers.org/clinvar/142599 ^@ NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) http://identifiers.org/clinvar/142600 ^@ NM_024675.3(PALB2):c.2557G>A (p.Gly853Ser) http://identifiers.org/clinvar/142601 ^@ NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) http://identifiers.org/clinvar/142602 ^@ NM_000314.6(PTEN):c.-765G>A http://identifiers.org/clinvar/142603 ^@ NM_007294.3(BRCA1):c.5193+3_5193+15del13 http://identifiers.org/clinvar/142604 ^@ NM_001128425.1(MUTYH):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/142605 ^@ NM_000059.3(BRCA2):c.3770C>T (p.Pro1257Leu) http://identifiers.org/clinvar/142606 ^@ NM_000059.3(BRCA2):c.2623G>A (p.Val875Ile) http://identifiers.org/clinvar/142607 ^@ NM_000059.3(BRCA2):c.5624A>G (p.Lys1875Arg) http://identifiers.org/clinvar/142608 ^@ NM_000059.3(BRCA2):c.5159C>A (p.Ser1720Ter) http://identifiers.org/clinvar/142609 ^@ NM_000455.4(STK11):c.835G>A (p.Gly279Ser) http://identifiers.org/clinvar/142610 ^@ NM_004360.4(CDH1):c.1103C>T (p.Thr368Ile) http://identifiers.org/clinvar/142611 ^@ NM_007294.3(BRCA1):c.231G>A (p.Thr77=) http://identifiers.org/clinvar/142612 ^@ NM_000059.3(BRCA2):c.6938-5C>T http://identifiers.org/clinvar/142613 ^@ NM_000251.2(MSH2):c.265G>C (p.Val89Leu) http://identifiers.org/clinvar/142614 ^@ NM_000251.2(MSH2):c.1568T>C (p.Phe523Ser) http://identifiers.org/clinvar/142615 ^@ NM_000059.3(BRCA2):c.7849A>G (p.Arg2617Gly) http://identifiers.org/clinvar/142616 ^@ NM_000059.3(BRCA2):c.1936A>C (p.Ser646Arg) http://identifiers.org/clinvar/142617 ^@ NM_000059.3(BRCA2):c.425+1G>A http://identifiers.org/clinvar/142618 ^@ NM_000179.2(MSH6):c.686A>G (p.Glu229Gly) http://identifiers.org/clinvar/142619 ^@ NM_001042492.2(NF1):c.1801C>T (p.Arg601Trp) http://identifiers.org/clinvar/142620 ^@ NM_000179.2(MSH6):c.2653A>T (p.Lys885Ter) http://identifiers.org/clinvar/142621 ^@ NM_000059.3(BRCA2):c.6913A>G (p.Lys2305Glu) http://identifiers.org/clinvar/142622 ^@ NM_007294.3(BRCA1):c.2076T>A (p.His692Gln) http://identifiers.org/clinvar/142623 ^@ NM_000179.2(MSH6):c.1457C>G (p.Thr486Ser) http://identifiers.org/clinvar/142624 ^@ NM_000546.5(TP53):c.541C>T (p.Arg181Cys) http://identifiers.org/clinvar/142625 ^@ NM_000535.6(PMS2):c.1199A>C (p.Gln400Pro) http://identifiers.org/clinvar/142626 ^@ NM_000059.3(BRCA2):c.5903C>T (p.Ser1968Leu) http://identifiers.org/clinvar/142627 ^@ NM_007294.3(BRCA1):c.4679G>T (p.Gly1560Val) http://identifiers.org/clinvar/142628 ^@ NM_007294.3(BRCA1):c.889A>G (p.Met297Val) http://identifiers.org/clinvar/142629 ^@ NM_000059.3(BRCA2):c.5386_5387delGA (p.Asp1796Cysfs) http://identifiers.org/clinvar/142630 ^@ NM_000059.3(BRCA2):c.9395A>G (p.Lys3132Arg) http://identifiers.org/clinvar/142631 ^@ NM_000059.3(BRCA2):c.486_488delGAG (p.Ser163del) http://identifiers.org/clinvar/142632 ^@ NM_004360.4(CDH1):c.2634C>T (p.Gly878=) http://identifiers.org/clinvar/142633 ^@ NM_004360.4(CDH1):c.933C>G (p.Leu311=) http://identifiers.org/clinvar/142634 ^@ NM_000059.3(BRCA2):c.5498A>G (p.Asn1833Ser) http://identifiers.org/clinvar/142635 ^@ NM_000535.6(PMS2):c.1481C>T (p.Ser494Leu) http://identifiers.org/clinvar/142636 ^@ NM_000314.6(PTEN):c.493G>T (p.Gly165Ter) http://identifiers.org/clinvar/142637 ^@ NM_003000.2(SDHB):c.689G>A (p.Arg230His) http://identifiers.org/clinvar/142638 ^@ NM_000059.3(BRCA2):c.5470_5471delAA (p.Asn1824Cysfs) http://identifiers.org/clinvar/142639 ^@ NM_007294.3(BRCA1):c.4361T>C (p.Val1454Ala) http://identifiers.org/clinvar/142640 ^@ NM_000314.6(PTEN):c.822G>A (p.Trp274Ter) http://identifiers.org/clinvar/142641 ^@ NM_000455.4(STK11):c.877G>A (p.Glu293Lys) http://identifiers.org/clinvar/142642 ^@ NM_007294.3(BRCA1):c.2613G>A (p.Pro871=) http://identifiers.org/clinvar/142643 ^@ NM_000546.5(TP53):c.155_157dupAAT (p.Trp53_Thr387delinsTer) http://identifiers.org/clinvar/142644 ^@ NM_000059.3(BRCA2):c.8798G>A (p.Arg2933Lys) http://identifiers.org/clinvar/142645 ^@ NM_000038.5(APC):c.2707G>T (p.Asp903Tyr) http://identifiers.org/clinvar/142646 ^@ NM_000059.3(BRCA2):c.1447dupG (p.Ala483Glyfs) http://identifiers.org/clinvar/142647 ^@ NM_000059.3(BRCA2):c.9561T>A (p.Asn3187Lys) http://identifiers.org/clinvar/142648 ^@ NM_000059.3(BRCA2):c.3412C>T (p.Gln1138Ter) http://identifiers.org/clinvar/142649 ^@ NM_000059.3(BRCA2):c.10211G>A (p.Cys3404Tyr) http://identifiers.org/clinvar/142650 ^@ NM_000535.6(PMS2):c.88C>T (p.Gln30Ter) http://identifiers.org/clinvar/142651 ^@ NM_032043.2(BRIP1):c.3607_3608delGAinsAT (p.Glu1203Ile) http://identifiers.org/clinvar/142652 ^@ NM_000314.6(PTEN):c.-1179A>T http://identifiers.org/clinvar/142653 ^@ NM_003000.2(SDHB):c.607_616delGGAGACAAAT (p.Gly203Ilefs) http://identifiers.org/clinvar/142654 ^@ NM_000143.3(FH):c.557G>A (p.Ser186Asn) http://identifiers.org/clinvar/142655 ^@ NM_007294.3(BRCA1):c.380G>T (p.Ser127Ile) http://identifiers.org/clinvar/142656 ^@ NM_000059.3(BRCA2):c.8299C>T (p.Pro2767Ser) http://identifiers.org/clinvar/142657 ^@ NM_000546.5(TP53):c.427G>A (p.Val143Met) http://identifiers.org/clinvar/142658 ^@ NM_000249.3(MLH1):c.1775G>C (p.Ser592Thr) http://identifiers.org/clinvar/142659 ^@ NM_004360.4(CDH1):c.1385T>C (p.Phe462Ser) http://identifiers.org/clinvar/142660 ^@ NM_004360.4(CDH1):c.2600A>G (p.Asn867Ser) http://identifiers.org/clinvar/142662 ^@ NM_000059.3(BRCA2):c.6424T>C (p.Ser2142Pro) http://identifiers.org/clinvar/142663 ^@ NM_000179.2(MSH6):c.3452C>G (p.Ala1151Gly) http://identifiers.org/clinvar/142664 ^@ NM_000249.3(MLH1):c.1039-5T>C http://identifiers.org/clinvar/142665 ^@ NM_000251.2(MSH2):c.1846C>T (p.Pro616Ser) http://identifiers.org/clinvar/142666 ^@ NM_007294.3(BRCA1):c.2593A>T (p.Lys865Ter) http://identifiers.org/clinvar/142667 ^@ NM_005359.5(SMAD4):c.1139+2dupT http://identifiers.org/clinvar/142668 ^@ NM_007294.3(BRCA1):c.3127A>G (p.Asn1043Asp) http://identifiers.org/clinvar/142669 ^@ NM_000249.3(MLH1):c.-230G>C http://identifiers.org/clinvar/142670 ^@ NM_000535.6(PMS2):c.354-3C>T http://identifiers.org/clinvar/142671 ^@ NM_000535.6(PMS2):c.766G>A (p.Gly256Ser) http://identifiers.org/clinvar/142672 ^@ NM_000179.2(MSH6):c.3800T>C (p.Met1267Thr) http://identifiers.org/clinvar/142673 ^@ NM_007294.3(BRCA1):c.3956G>A (p.Gly1319Asp) http://identifiers.org/clinvar/142674 ^@ NM_000179.2(MSH6):c.1769C>T (p.Pro590Leu) http://identifiers.org/clinvar/142675 ^@ NM_000179.2(MSH6):c.727C>T (p.Arg243Cys) http://identifiers.org/clinvar/142676 ^@ NM_020975.4(RET):c.2498G>A (p.Arg833His) http://identifiers.org/clinvar/142677 ^@ NM_005732.3(RAD50):c.3443G>A (p.Arg1148His) http://identifiers.org/clinvar/142678 ^@ NM_000179.2(MSH6):c.1900_1901delTT (p.Leu634Glufs) http://identifiers.org/clinvar/142679 ^@ NM_001042492.2(NF1):c.3198-5T>C http://identifiers.org/clinvar/142680 ^@ NM_000535.6(PMS2):c.1253C>T (p.Ser418Phe) http://identifiers.org/clinvar/142681 ^@ NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys) http://identifiers.org/clinvar/142682 ^@ NM_000051.3(ATM):c.5056A>G (p.Ile1686Val) http://identifiers.org/clinvar/142683 ^@ NM_000251.2(MSH2):c.-68-125A>G http://identifiers.org/clinvar/142684 ^@ NM_000249.3(MLH1):c.-198G>A http://identifiers.org/clinvar/142685 ^@ NM_000251.2(MSH2):c.1772C>T (p.Pro591Leu) http://identifiers.org/clinvar/142686 ^@ NM_000059.3(BRCA2):c.5671G>A (p.Ala1891Thr) http://identifiers.org/clinvar/142687 ^@ NM_000059.3(BRCA2):c.3908G>A (p.Gly1303Asp) http://identifiers.org/clinvar/142688 ^@ NM_000535.6(PMS2):c.2559C>G (p.Ile853Met) http://identifiers.org/clinvar/142689 ^@ NM_000546.5(TP53):c.19G>C (p.Asp7His) http://identifiers.org/clinvar/142690 ^@ NM_000059.3(BRCA2):c.5732A>G (p.Asp1911Gly) http://identifiers.org/clinvar/142691 ^@ NM_000546.5(TP53):c.320A>G (p.Tyr107Cys) http://identifiers.org/clinvar/142692 ^@ NM_004360.4(CDH1):c.269G>A (p.Arg90Gln) http://identifiers.org/clinvar/142693 ^@ NM_007294.3(BRCA1):c.212+10T>C http://identifiers.org/clinvar/142694 ^@ NM_000059.3(BRCA2):c.1439G>A (p.Cys480Tyr) http://identifiers.org/clinvar/142695 ^@ NM_000251.2(MSH2):c.-68-39C>A http://identifiers.org/clinvar/142696 ^@ NM_000455.4(STK11):c.1016C>T (p.Pro339Leu) http://identifiers.org/clinvar/142697 ^@ NM_000546.5(TP53):c.137delCinsGT (p.Ser46Cysfs) http://identifiers.org/clinvar/142698 ^@ NM_000179.2(MSH6):c.1081C>T (p.Arg361Cys) http://identifiers.org/clinvar/142699 ^@ NM_024675.3(PALB2):c.560C>T (p.Pro187Leu) http://identifiers.org/clinvar/142700 ^@ NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) http://identifiers.org/clinvar/142701 ^@ NM_002485.4(NBN):c.1986_1999delGGTGATTAAAAACT (p.Val663Tyrfs) http://identifiers.org/clinvar/142702 ^@ NM_000546.5(TP53):c.910A>G (p.Thr304Ala) http://identifiers.org/clinvar/142703 ^@ NM_000051.3(ATM):c.5474A>C (p.Gln1825Pro) http://identifiers.org/clinvar/142704 ^@ NM_002485.4(NBN):c.1024C>T (p.Leu342Phe) http://identifiers.org/clinvar/142705 ^@ NM_024675.3(PALB2):c.1114A>G (p.Ser372Gly) http://identifiers.org/clinvar/142706 ^@ NM_024675.3(PALB2):c.740C>G (p.Thr247Arg) http://identifiers.org/clinvar/142707 ^@ NM_001042492.2(NF1):c.2015G>T (p.Gly672Val) http://identifiers.org/clinvar/142708 ^@ NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) http://identifiers.org/clinvar/142709 ^@ NM_000051.3(ATM):c.717_720delCCTC (p.Phe239Leufs) http://identifiers.org/clinvar/142710 ^@ NM_000059.3(BRCA2):c.4331A>G (p.Asn1444Ser) http://identifiers.org/clinvar/142711 ^@ NM_000465.3(BARD1):c.2171C>T (p.Ala724Val) http://identifiers.org/clinvar/142712 ^@ NM_007294.3(BRCA1):c.442-18_442-4del15 http://identifiers.org/clinvar/142713 ^@ NM_000455.4(STK11):c.1225C>G (p.Arg409Gly) http://identifiers.org/clinvar/142714 ^@ NM_000546.5(TP53):c.711G>A (p.Met237Ile) http://identifiers.org/clinvar/142715 ^@ NM_000535.6(PMS2):c.2438G>T (p.Arg813Leu) http://identifiers.org/clinvar/142716 ^@ NM_007294.3(BRCA1):c.335_338delATAA (p.Asn112Thrfs) http://identifiers.org/clinvar/142717 ^@ NM_000059.3(BRCA2):c.6703_6704delAT (p.Met2235Glyfs) http://identifiers.org/clinvar/142718 ^@ NM_000535.6(PMS2):c.836G>T (p.Gly279Val) http://identifiers.org/clinvar/142719 ^@ NM_005591.3(MRE11):c.402G>C (p.Gly134=) http://identifiers.org/clinvar/142720 ^@ NM_000059.3(BRCA2):c.3671G>T (p.Gly1224Val) http://identifiers.org/clinvar/142721 ^@ NM_000535.6(PMS2):c.2240G>C (p.Arg747Thr) http://identifiers.org/clinvar/142722 ^@ NM_000059.3(BRCA2):c.3358delG (p.Glu1120Asnfs) http://identifiers.org/clinvar/142723 ^@ NM_000465.3(BARD1):c.769G>A (p.Glu257Lys) http://identifiers.org/clinvar/142724 ^@ NM_000251.2(MSH2):c.-68-8G>A http://identifiers.org/clinvar/142725 ^@ NM_058195.3(CDKN2A):c.382G>A (p.Ala128Thr) http://identifiers.org/clinvar/142726 ^@ NM_000051.3(ATM):c.7531A>T (p.Ile2511Phe) http://identifiers.org/clinvar/142727 ^@ NM_005732.3(RAD50):c.2159A>G (p.Lys720Arg) http://identifiers.org/clinvar/142728 ^@ NM_000465.3(BARD1):c.95G>T (p.Gly32Val) http://identifiers.org/clinvar/142729 ^@ NM_000059.3(BRCA2):c.7580T>C (p.Val2527Ala) http://identifiers.org/clinvar/142730 ^@ NM_004360.4(CDH1):c.353C>G (p.Thr118Arg) http://identifiers.org/clinvar/142731 ^@ NM_000038.5(APC):c.4349G>A (p.Arg1450Gln) http://identifiers.org/clinvar/142732 ^@ NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) http://identifiers.org/clinvar/142733 ^@ NM_024675.3(PALB2):c.2052delC (p.Arg686Glyfs) http://identifiers.org/clinvar/142734 ^@ NM_000465.3(BARD1):c.1212C>G (p.Tyr404Ter) http://identifiers.org/clinvar/142735 ^@ NM_004329.2(BMPR1A):c.682C>T (p.Arg228Ter) http://identifiers.org/clinvar/142736 ^@ NM_001128425.1(MUTYH):c.347G>A (p.Arg116Gln) http://identifiers.org/clinvar/142737 ^@ NM_007194.3(CHEK2):c.1567delC (p.Arg523Valfs) http://identifiers.org/clinvar/142738 ^@ NM_000179.2(MSH6):c.3847A>G (p.Ile1283Val) http://identifiers.org/clinvar/142739 ^@ NM_005732.3(RAD50):c.511G>T (p.Ala171Ser) http://identifiers.org/clinvar/142740 ^@ NM_000249.3(MLH1):c.-261G>A http://identifiers.org/clinvar/142741 ^@ NM_001042492.2(NF1):c.475A>G (p.Thr159Ala) http://identifiers.org/clinvar/142742 ^@ NM_001042492.2(NF1):c.83A>C (p.Gln28Pro) http://identifiers.org/clinvar/142743 ^@ NM_000455.4(STK11):c.1276C>G (p.Arg426Gly) http://identifiers.org/clinvar/142744 ^@ NM_000051.3(ATM):c.3722A>T (p.Tyr1241Phe) http://identifiers.org/clinvar/142745 ^@ NM_000038.5(APC):c.3548A>G (p.Tyr1183Cys) http://identifiers.org/clinvar/142746 ^@ NM_024675.3(PALB2):c.2608G>A (p.Val870Ile) http://identifiers.org/clinvar/142747 ^@ NM_001128425.1(MUTYH):c.1228G>A (p.Glu410Lys) http://identifiers.org/clinvar/142748 ^@ NM_000059.3(BRCA2):c.977G>A (p.Ser326Asn) http://identifiers.org/clinvar/142749 ^@ NM_000051.3(ATM):c.7559T>G (p.Met2520Arg) http://identifiers.org/clinvar/142750 ^@ NM_000251.2(MSH2):c.942+2T>C http://identifiers.org/clinvar/142751 ^@ NM_001128425.1(MUTYH):c.80G>A (p.Arg27Lys) http://identifiers.org/clinvar/142752 ^@ NM_000059.3(BRCA2):c.5557_5558delTGinsCT (p.Cys1853Leu) http://identifiers.org/clinvar/142753 ^@ NM_001042492.2(NF1):c.6806G>A (p.Arg2269His) http://identifiers.org/clinvar/142754 ^@ NM_002878.3(RAD51D):c.547C>T (p.Gln183Ter) http://identifiers.org/clinvar/142755 ^@ NM_001042492.2(NF1):c.1553C>T (p.Thr518Ile) http://identifiers.org/clinvar/142756 ^@ NM_024675.3(PALB2):c.2507_2509delTCG (p.Val836del) http://identifiers.org/clinvar/142757 ^@ NM_058216.2(RAD51C):c.24T>A (p.Phe8Leu) http://identifiers.org/clinvar/142758 ^@ NM_058216.2(RAD51C):c.501_502dupTA (p.Arg168Ilefs) http://identifiers.org/clinvar/142759 ^@ NM_001042492.2(NF1):c.8378-4C>T http://identifiers.org/clinvar/142760 ^@ NM_007194.3(CHEK2):c.1217G>A (p.Arg406His) http://identifiers.org/clinvar/142761 ^@ NM_001042492.2(NF1):c.3402G>A (p.Met1134Ile) http://identifiers.org/clinvar/142762 ^@ NM_058216.2(RAD51C):c.904+5G>T http://identifiers.org/clinvar/142763 ^@ NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) http://identifiers.org/clinvar/142764 ^@ NM_003000.2(SDHB):c.72+1G>T http://identifiers.org/clinvar/142765 ^@ NM_000535.6(PMS2):c.2117delA (p.Lys706Serfs) http://identifiers.org/clinvar/142766 ^@ NM_000546.5(TP53):c.455C>T (p.Pro152Leu) http://identifiers.org/clinvar/142767 ^@ NM_000251.2(MSH2):c.1076G>C (p.Arg359Thr) http://identifiers.org/clinvar/142768 ^@ NM_000179.2(MSH6):c.1450G>C (p.Glu484Gln) http://identifiers.org/clinvar/142769 ^@ NM_000465.3(BARD1):c.1134G>C (p.Arg378Ser) http://identifiers.org/clinvar/142770 ^@ NM_004360.4(CDH1):c.2076T>C (p.Ala692=) http://identifiers.org/clinvar/142771 ^@ NM_000059.3(BRCA2):c.754G>A (p.Asp252Asn) http://identifiers.org/clinvar/142772 ^@ NM_007194.3(CHEK2):c.1502_1503dupAG (p.Glu502Argfs) http://identifiers.org/clinvar/142773 ^@ NM_000179.2(MSH6):c.3469G>T (p.Gly1157Cys) http://identifiers.org/clinvar/142774 ^@ NM_007294.3(BRCA1):c.4412G>C (p.Gly1471Ala) http://identifiers.org/clinvar/142775 ^@ NM_007294.3(BRCA1):c.3022A>C (p.Met1008Leu) http://identifiers.org/clinvar/142776 ^@ NM_007294.3(BRCA1):c.2056G>T (p.Glu686Ter) http://identifiers.org/clinvar/142777 ^@ NM_000535.6(PMS2):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/142778 ^@ NM_000535.6(PMS2):c.746_753delACTCCGTG (p.Asp249Valfs) http://identifiers.org/clinvar/142779 ^@ NM_000038.5(APC):c.7132C>G (p.Leu2378Val) http://identifiers.org/clinvar/142780 ^@ NM_005732.3(RAD50):c.2530A>C (p.Ser844Arg) http://identifiers.org/clinvar/142781 ^@ NM_000179.2(MSH6):c.3037_3041delAAGAA (p.Lys1013Valfs) http://identifiers.org/clinvar/142782 ^@ NM_000059.3(BRCA2):c.1714G>A (p.Val572Ile) http://identifiers.org/clinvar/142783 ^@ NM_000059.3(BRCA2):c.5228G>A (p.Ser1743Asn) http://identifiers.org/clinvar/142784 ^@ NM_000059.3(BRCA2):c.7685T>G (p.Phe2562Cys) http://identifiers.org/clinvar/142785 ^@ NM_000059.3(BRCA2):c.7643A>T (p.His2548Leu) http://identifiers.org/clinvar/142786 ^@ NM_001128425.1(MUTYH):c.1550_1551delGCinsAG (p.Cys517Ter) http://identifiers.org/clinvar/142787 ^@ NM_000059.3(BRCA2):c.6091dupA (p.Thr2031Asnfs) http://identifiers.org/clinvar/142788 ^@ NM_004360.4(CDH1):c.1351A>C (p.Ile451Leu) http://identifiers.org/clinvar/142789 ^@ NM_000059.3(BRCA2):c.3985A>G (p.Arg1329Gly) http://identifiers.org/clinvar/142790 ^@ NM_007294.3(BRCA1):c.3962C>A (p.Ser1321Tyr) http://identifiers.org/clinvar/142791 ^@ NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) http://identifiers.org/clinvar/142792 ^@ NM_000059.3(BRCA2):c.3772A>G (p.Ile1258Val) http://identifiers.org/clinvar/142793 ^@ NM_007294.3(BRCA1):c.2915G>A (p.Gly972Glu) http://identifiers.org/clinvar/142794 ^@ NM_000059.3(BRCA2):c.8656C>G (p.Pro2886Ala) http://identifiers.org/clinvar/142795 ^@ NM_000059.3(BRCA2):c.3723T>G (p.Phe1241Leu) http://identifiers.org/clinvar/142796 ^@ NM_007294.3(BRCA1):c.412C>G (p.Leu138Val) http://identifiers.org/clinvar/142797 ^@ NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) http://identifiers.org/clinvar/142798 ^@ NM_000455.4(STK11):c.1068C>G (p.Ile356Met) http://identifiers.org/clinvar/142799 ^@ NM_000535.6(PMS2):c.1610_1611ins18 (p.?) http://identifiers.org/clinvar/142800 ^@ NM_032043.2(BRIP1):c.2237_2240delTCAA (p.Ile746Asnfs) http://identifiers.org/clinvar/142801 ^@ NM_001128425.1(MUTYH):c.926G>A (p.Arg309His) http://identifiers.org/clinvar/142802 ^@ NM_004360.4(CDH1):c.794A>T (p.Glu265Val) http://identifiers.org/clinvar/142803 ^@ NM_000051.3(ATM):c.1378A>C (p.Thr460Pro) http://identifiers.org/clinvar/142804 ^@ NM_001042492.2(NF1):c.5513C>G (p.Ser1838Cys) http://identifiers.org/clinvar/142805 ^@ NM_001128425.1(MUTYH):c.504+2T>C http://identifiers.org/clinvar/142806 ^@ NM_032043.2(BRIP1):c.932A>G (p.Tyr311Cys) http://identifiers.org/clinvar/142807 ^@ NM_000059.3(BRCA2):c.8303T>A (p.Leu2768His) http://identifiers.org/clinvar/142808 ^@ NM_058216.2(RAD51C):c.916G>A (p.Gly306Arg) http://identifiers.org/clinvar/142809 ^@ NM_032043.2(BRIP1):c.326A>G (p.Asn109Ser) http://identifiers.org/clinvar/142810 ^@ NM_024675.3(PALB2):c.1552T>C (p.Ser518Pro) http://identifiers.org/clinvar/142811 ^@ NM_002878.3(RAD51D):c.140_141insAA (p.Tyr47Terfs) http://identifiers.org/clinvar/142812 ^@ NM_001128425.1(MUTYH):c.346C>T (p.Arg116Trp) http://identifiers.org/clinvar/142813 ^@ NM_000059.3(BRCA2):c.2389A>C (p.Lys797Gln) http://identifiers.org/clinvar/142814 ^@ NM_000059.3(BRCA2):c.5048A>T (p.Gln1683Leu) http://identifiers.org/clinvar/142815 ^@ NM_007294.3(BRCA1):c.1931_1933delGTT (p.Cys644del) http://identifiers.org/clinvar/142816 ^@ NM_000059.3(BRCA2):c.6106C>T (p.Pro2036Ser) http://identifiers.org/clinvar/142817 ^@ NM_000051.3(ATM):c.3772C>A (p.His1258Asn) http://identifiers.org/clinvar/142818 ^@ NM_005591.3(MRE11):c.826C>T (p.Pro276Ser) http://identifiers.org/clinvar/142819 ^@ NM_007294.3(BRCA1):c.2877A>C (p.Arg959Ser) http://identifiers.org/clinvar/142820 ^@ NM_000038.5(APC):c.1101delT (p.Val368Tyrfs) http://identifiers.org/clinvar/142821 ^@ NM_002485.4(NBN):c.1080_1082delTAC (p.Thr362del) http://identifiers.org/clinvar/142822 ^@ NM_002485.4(NBN):c.754A>G (p.Ile252Val) http://identifiers.org/clinvar/142823 ^@ NM_007294.3(BRCA1):c.527C>G (p.Thr176Arg) http://identifiers.org/clinvar/142824 ^@ NM_004329.2(BMPR1A):c.608G>A (p.Gly203Glu) http://identifiers.org/clinvar/142825 ^@ NM_007294.3(BRCA1):c.238_239delAGins22 (p.?) http://identifiers.org/clinvar/142826 ^@ NM_004360.4(CDH1):c.1921C>T (p.Gln641Ter) http://identifiers.org/clinvar/142827 ^@ NM_003000.2(SDHB):c.50C>A (p.Thr17Asn) http://identifiers.org/clinvar/142828 ^@ NM_000546.5(TP53):c.1010G>T (p.Arg337Leu) http://identifiers.org/clinvar/142829 ^@ NM_000059.3(BRCA2):c.5927G>T (p.Gly1976Val) http://identifiers.org/clinvar/142830 ^@ NM_007294.3(BRCA1):c.3449C>T (p.Pro1150Leu) http://identifiers.org/clinvar/142831 ^@ NM_000059.3(BRCA2):c.9997C>G (p.Leu3333Val) http://identifiers.org/clinvar/142832 ^@ NM_000059.3(BRCA2):c.4631A>G (p.Asn1544Ser) http://identifiers.org/clinvar/142833 ^@ NM_000059.3(BRCA2):c.4873G>A (p.Glu1625Lys) http://identifiers.org/clinvar/142834 ^@ NM_007294.3(BRCA1):c.5402G>A (p.Gly1801Asp) http://identifiers.org/clinvar/142835 ^@ NM_000059.3(BRCA2):c.1265A>C (p.Asn422Thr) http://identifiers.org/clinvar/142836 ^@ NM_007294.3(BRCA1):c.4389C>G (p.Tyr1463Ter) http://identifiers.org/clinvar/142837 ^@ NM_005591.3(MRE11):c.1972A>G (p.Thr658Ala) http://identifiers.org/clinvar/142838 ^@ NM_000535.6(PMS2):c.1058C>T (p.Ala353Val) http://identifiers.org/clinvar/142839 ^@ NM_004360.4(CDH1):c.2440-6_2440-4delCTT http://identifiers.org/clinvar/142840 ^@ NM_058216.2(RAD51C):c.431T>C (p.Ile144Thr) http://identifiers.org/clinvar/142841 ^@ NM_005591.3(MRE11):c.496C>G (p.Pro166Ala) http://identifiers.org/clinvar/142842 ^@ NM_000251.2(MSH2):c.116G>C (p.Arg39Pro) http://identifiers.org/clinvar/142843 ^@ NM_004329.2(BMPR1A):c.676-3A>C http://identifiers.org/clinvar/142844 ^@ NM_000314.6(PTEN):c.-1176T>G http://identifiers.org/clinvar/142845 ^@ NM_000051.3(ATM):c.3527T>G (p.Leu1176Arg) http://identifiers.org/clinvar/142846 ^@ NM_000546.5(TP53):c.1015G>A (p.Glu339Lys) http://identifiers.org/clinvar/142847 ^@ NM_000059.3(BRCA2):c.8225A>G (p.Asn2742Ser) http://identifiers.org/clinvar/142848 ^@ NM_000059.3(BRCA2):c.5341G>A (p.Asp1781Asn) http://identifiers.org/clinvar/142849 ^@ NM_001128425.1(MUTYH):c.845C>T (p.Ala282Val) http://identifiers.org/clinvar/142850 ^@ NM_024675.3(PALB2):c.2401G>A (p.Asp801Asn) http://identifiers.org/clinvar/142851 ^@ NM_007194.3(CHEK2):c.247delC (p.Gln83Lysfs) http://identifiers.org/clinvar/142852 ^@ NM_000465.3(BARD1):c.1989C>A (p.Asn663Lys) http://identifiers.org/clinvar/142853 ^@ NM_004360.4(CDH1):c.1663C>G (p.His555Asp) http://identifiers.org/clinvar/142854 ^@ NM_000546.5(TP53):c.214C>G (p.Pro72Ala) http://identifiers.org/clinvar/142855 ^@ NM_007294.3(BRCA1):c.1243G>A (p.Val415Ile) http://identifiers.org/clinvar/142856 ^@ NM_000249.3(MLH1):c.117-2A>G http://identifiers.org/clinvar/142857 ^@ NM_032043.2(BRIP1):c.992T>G (p.Met331Arg) http://identifiers.org/clinvar/142858 ^@ NM_001042492.2(NF1):c.241C>A (p.Leu81Ile) http://identifiers.org/clinvar/142859 ^@ NM_002485.4(NBN):c.935T>C (p.Leu312Ser) http://identifiers.org/clinvar/142860 ^@ NM_001128425.1(MUTYH):c.1075C>A (p.Pro359Thr) http://identifiers.org/clinvar/142861 ^@ NM_000059.3(BRCA2):c.8332-2A>G http://identifiers.org/clinvar/142862 ^@ NM_000059.3(BRCA2):c.6144T>G (p.Asn2048Lys) http://identifiers.org/clinvar/142863 ^@ NM_000546.5(TP53):c.171C>A (p.Asp57Glu) http://identifiers.org/clinvar/142864 ^@ NM_000251.2(MSH2):c.1210delT (p.Cys404Valfs) http://identifiers.org/clinvar/142865 ^@ NM_007294.3(BRCA1):c.5492C>G (p.Pro1831Arg) http://identifiers.org/clinvar/142866 ^@ NM_000059.3(BRCA2):c.9011A>G (p.Lys3004Arg) http://identifiers.org/clinvar/142867 ^@ NM_007294.3(BRCA1):c.733G>T (p.Asp245Tyr) http://identifiers.org/clinvar/142868 ^@ NM_000059.3(BRCA2):c.2059_2063delGATTA (p.Asp687Terfs) http://identifiers.org/clinvar/142869 ^@ NM_000059.3(BRCA2):c.8101T>C (p.Ser2701Pro) http://identifiers.org/clinvar/142870 ^@ NM_000059.3(BRCA2):c.1863A>C (p.Glu621Asp) http://identifiers.org/clinvar/142871 ^@ NM_000455.4(STK11):c.310A>T (p.Arg104Trp) http://identifiers.org/clinvar/142872 ^@ NM_000251.2(MSH2):c.131C>A (p.Thr44Lys) http://identifiers.org/clinvar/142873 ^@ NM_007294.3(BRCA1):c.1339G>A (p.Val447Ile) http://identifiers.org/clinvar/142874 ^@ NM_000059.3(BRCA2):c.8417C>T (p.Ser2806Leu) http://identifiers.org/clinvar/142875 ^@ NM_000535.6(PMS2):c.1211C>G (p.Pro404Arg) http://identifiers.org/clinvar/142876 ^@ NM_000251.2(MSH2):c.-68-48G>T http://identifiers.org/clinvar/142877 ^@ NM_000535.6(PMS2):c.2531C>A (p.Pro844His) http://identifiers.org/clinvar/142878 ^@ NM_000314.6(PTEN):c.1027-4C>G http://identifiers.org/clinvar/142879 ^@ NM_000535.6(PMS2):c.1204C>A (p.Gln402Lys) http://identifiers.org/clinvar/142880 ^@ NM_007294.3(BRCA1):c.1078T>C (p.Cys360Arg) http://identifiers.org/clinvar/142881 ^@ NM_000535.6(PMS2):c.676A>C (p.Asn226His) http://identifiers.org/clinvar/142882 ^@ NM_000077.4(CDKN2A):c.251A>C (p.Asp84Ala) http://identifiers.org/clinvar/142883 ^@ NM_000314.6(PTEN):c.-887T>C http://identifiers.org/clinvar/142884 ^@ NM_001128425.1(MUTYH):c.1494G>C (p.Gln498His) http://identifiers.org/clinvar/142885 ^@ NM_000059.3(BRCA2):c.428C>G (p.Pro143Arg) http://identifiers.org/clinvar/142886 ^@ NM_004360.4(CDH1):c.1435G>C (p.Asp479His) http://identifiers.org/clinvar/142887 ^@ NM_000077.4(CDKN2A):c.335G>A (p.Arg112His) http://identifiers.org/clinvar/142888 ^@ NM_004360.4(CDH1):c.1147C>T (p.Gln383Ter) http://identifiers.org/clinvar/142889 ^@ NM_000059.3(BRCA2):c.6226_6229delGTTA (p.Val2076Argfs) http://identifiers.org/clinvar/142890 ^@ NM_000249.3(MLH1):c.743A>G (p.Asn248Ser) http://identifiers.org/clinvar/142891 ^@ NM_000455.4(STK11):c.841C>A (p.Pro281Thr) http://identifiers.org/clinvar/142892 ^@ NM_000314.6(PTEN):c.-1133G>A http://identifiers.org/clinvar/142893 ^@ NM_000051.3(ATM):c.6296A>G (p.His2099Arg) http://identifiers.org/clinvar/142894 ^@ NM_001128425.1(MUTYH):c.1408C>G (p.Pro470Ala) http://identifiers.org/clinvar/142895 ^@ NM_000251.2(MSH2):c.586C>T (p.Pro196Ser) http://identifiers.org/clinvar/142896 ^@ NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) http://identifiers.org/clinvar/142897 ^@ NM_000179.2(MSH6):c.2147C>T (p.Thr716Ile) http://identifiers.org/clinvar/142898 ^@ NM_000465.3(BARD1):c.580A>T (p.Arg194Trp) http://identifiers.org/clinvar/142899 ^@ NM_001127500.2(MET):c.1051C>G (p.Pro351Ala) http://identifiers.org/clinvar/142900 ^@ NM_032043.2(BRIP1):c.3064G>A (p.Glu1022Lys) http://identifiers.org/clinvar/142901 ^@ NM_007194.3(CHEK2):c.1265G>C (p.Ser422Thr) http://identifiers.org/clinvar/142902 ^@ NM_005732.3(RAD50):c.3902A>G (p.Lys1301Arg) http://identifiers.org/clinvar/142903 ^@ NM_000179.2(MSH6):c.1290delG (p.Lys431Asnfs) http://identifiers.org/clinvar/142904 ^@ NM_003001.3(SDHC):c.436C>A (p.Pro146Thr) http://identifiers.org/clinvar/142905 ^@ NM_004360.4(CDH1):c.2439+5_2439+8delGTAA http://identifiers.org/clinvar/142906 ^@ NM_000314.6(PTEN):c.-994_-984dupTCGCCTCCCGC http://identifiers.org/clinvar/142907 ^@ NM_000251.2(MSH2):c.367-5C>G http://identifiers.org/clinvar/142908 ^@ NM_000051.3(ATM):c.5396delG (p.Ser1799Metfs) http://identifiers.org/clinvar/142909 ^@ NM_007194.3(CHEK2):c.608A>G (p.Asp203Gly) http://identifiers.org/clinvar/142910 ^@ NM_000465.3(BARD1):c.119C>T (p.Ala40Val) http://identifiers.org/clinvar/142911 ^@ NM_001042492.2(NF1):c.2589T>G (p.Tyr863Ter) http://identifiers.org/clinvar/142912 ^@ NM_000314.6(PTEN):c.865A>G (p.Lys289Glu) http://identifiers.org/clinvar/142913 ^@ NM_000051.3(ATM):c.94C>T (p.Arg32Cys) http://identifiers.org/clinvar/142914 ^@ NM_024675.3(PALB2):c.2716T>C (p.Trp906Arg) http://identifiers.org/clinvar/142915 ^@ NM_032043.2(BRIP1):c.1195G>A (p.Glu399Lys) http://identifiers.org/clinvar/142916 ^@ NM_000546.5(TP53):c.787A>G (p.Asn263Asp) http://identifiers.org/clinvar/142917 ^@ NM_007194.3(CHEK2):c.1153T>C (p.Cys385Arg) http://identifiers.org/clinvar/142918 ^@ NM_000059.3(BRCA2):c.2488A>G (p.Asn830Asp) http://identifiers.org/clinvar/142919 ^@ NM_058216.2(RAD51C):c.701C>G (p.Ser234Ter) http://identifiers.org/clinvar/142920 ^@ NM_001042492.2(NF1):c.6919_6921delAAG (p.Lys2307del) http://identifiers.org/clinvar/142921 ^@ NM_001042492.2(NF1):c.3689T>C (p.Val1230Ala) http://identifiers.org/clinvar/142922 ^@ NM_007294.3(BRCA1):c.3344_3346dupAAG (p.Glu1115_Val1116insGlu) http://identifiers.org/clinvar/142923 ^@ NM_000059.3(BRCA2):c.4672A>C (p.Ser1558Arg) http://identifiers.org/clinvar/142924 ^@ NM_004360.4(CDH1):c.2318A>G (p.His773Arg) http://identifiers.org/clinvar/142925 ^@ NM_007294.3(BRCA1):c.3579_3580insT (p.Thr1194Tyrfs) http://identifiers.org/clinvar/142926 ^@ NM_007294.3(BRCA1):c.4771G>A (p.Gly1591Ser) http://identifiers.org/clinvar/142927 ^@ NM_000535.6(PMS2):c.1057G>A (p.Ala353Thr) http://identifiers.org/clinvar/142928 ^@ NM_005732.3(RAD50):c.756+5C>T http://identifiers.org/clinvar/142929 ^@ NM_000535.6(PMS2):c.2476G>A (p.Glu826Lys) http://identifiers.org/clinvar/142930 ^@ NM_000059.3(BRCA2):c.9245T>G (p.Val3082Gly) http://identifiers.org/clinvar/142931 ^@ NM_000059.3(BRCA2):c.2920G>A (p.Asp974Asn) http://identifiers.org/clinvar/142932 ^@ NM_007194.3(CHEK2):c.445-1G>C http://identifiers.org/clinvar/142933 ^@ NM_000051.3(ATM):c.8810T>A (p.Val2937Glu) http://identifiers.org/clinvar/142934 ^@ NM_005732.3(RAD50):c.2174G>A (p.Arg725Gln) http://identifiers.org/clinvar/142935 ^@ NM_024675.3(PALB2):c.292A>G (p.Ile98Val) http://identifiers.org/clinvar/142936 ^@ NM_000535.6(PMS2):c.1232A>C (p.Glu411Ala) http://identifiers.org/clinvar/142937 ^@ NM_000535.6(PMS2):c.868T>C (p.Phe290Leu) http://identifiers.org/clinvar/142938 ^@ NM_007294.3(BRCA1):c.3969_3970delAA (p.Gln1323Hisfs) http://identifiers.org/clinvar/142939 ^@ NM_000455.4(STK11):c.1100C>T (p.Thr367Met) http://identifiers.org/clinvar/142940 ^@ NM_004329.2(BMPR1A):c.1414G>A (p.Glu472Lys) http://identifiers.org/clinvar/142941 ^@ NM_001128425.1(MUTYH):c.17C>A (p.Ser6Tyr) http://identifiers.org/clinvar/142942 ^@ NM_000465.3(BARD1):c.581G>A (p.Arg194Lys) http://identifiers.org/clinvar/142943 ^@ NM_004360.4(CDH1):c.1840A>G (p.Ile614Val) http://identifiers.org/clinvar/142944 ^@ NM_004360.4(CDH1):c.833-3C>T http://identifiers.org/clinvar/142945 ^@ NM_007194.3(CHEK2):c.1096-4T>C http://identifiers.org/clinvar/142946 ^@ NM_000249.3(MLH1):c.1489C>T (p.Arg497Trp) http://identifiers.org/clinvar/142947 ^@ NM_005732.3(RAD50):c.1672A>G (p.Arg558Gly) http://identifiers.org/clinvar/142948 ^@ NM_024675.3(PALB2):c.1361C>T (p.Ser454Phe) http://identifiers.org/clinvar/142949 ^@ NM_032043.2(BRIP1):c.2393G>A (p.Arg798Gln) http://identifiers.org/clinvar/142950 ^@ NM_007294.3(BRCA1):c.1920A>T (p.Gln640His) http://identifiers.org/clinvar/142951 ^@ NM_000051.3(ATM):c.1329delA (p.Gln445Asnfs) http://identifiers.org/clinvar/142952 ^@ NM_005591.3(MRE11):c.553C>G (p.Pro185Ala) http://identifiers.org/clinvar/142953 ^@ NM_000038.5(APC):c.2926A>G (p.Arg976Gly) http://identifiers.org/clinvar/142954 ^@ NM_000051.3(ATM):c.9047_9057delAACTGAAAGGA (p.Lys3016Serfs) http://identifiers.org/clinvar/142955 ^@ NM_002878.3(RAD51D):c.335G>A (p.Gly112Asp) http://identifiers.org/clinvar/142956 ^@ NM_007194.3(CHEK2):c.592+3A>T http://identifiers.org/clinvar/142957 ^@ NM_004360.4(CDH1):c.1898G>A (p.Gly633Glu) http://identifiers.org/clinvar/142958 ^@ NM_001042492.2(NF1):c.1392+5_1392+6delGAinsTT http://identifiers.org/clinvar/142959 ^@ NM_000535.6(PMS2):c.936G>A (p.Met312Ile) http://identifiers.org/clinvar/142960 ^@ NM_000535.6(PMS2):c.983A>G (p.Asp328Gly) http://identifiers.org/clinvar/142961 ^@ NM_000179.2(MSH6):c.4001+4_4001+8dupACTAA http://identifiers.org/clinvar/142962 ^@ NM_000249.3(MLH1):c.1878C>A (p.Phe626Leu) http://identifiers.org/clinvar/142963 ^@ NM_000059.3(BRCA2):c.4821_4823delTGAinsC (p.Glu1608Aspfs) http://identifiers.org/clinvar/142964 ^@ NM_000251.2(MSH2):c.66C>G (p.Phe22Leu) http://identifiers.org/clinvar/142965 ^@ NM_032043.2(BRIP1):c.1655T>C (p.Ile552Thr) http://identifiers.org/clinvar/142966 ^@ NM_000051.3(ATM):c.2887A>G (p.Met963Val) http://identifiers.org/clinvar/142967 ^@ NM_000059.3(BRCA2):c.3053A>G (p.Lys1018Arg) http://identifiers.org/clinvar/142968 ^@ NM_004360.4(CDH1):c.1136C>T (p.Thr379Met) http://identifiers.org/clinvar/142969 ^@ NM_000251.2(MSH2):c.228G>T (p.Gln76His) http://identifiers.org/clinvar/142970 ^@ NM_000179.2(MSH6):c.2561_2563delAGA (p.Lys854del) http://identifiers.org/clinvar/142971 ^@ NM_000059.3(BRCA2):c.9913G>A (p.Gly3305Ser) http://identifiers.org/clinvar/142972 ^@ NM_000059.3(BRCA2):c.8611G>C (p.Glu2871Gln) http://identifiers.org/clinvar/142973 ^@ NM_000051.3(ATM):c.3625delT (p.Phe1209Leufs) http://identifiers.org/clinvar/142974 ^@ NM_000179.2(MSH6):c.3020delG (p.Trp1007Terfs) http://identifiers.org/clinvar/142975 ^@ NM_000051.3(ATM):c.4359_4363delAAAAA (p.Ile1453Metfs) http://identifiers.org/clinvar/142976 ^@ NM_004360.4(CDH1):c.2095C>G (p.Gln699Glu) http://identifiers.org/clinvar/142977 ^@ NM_000051.3(ATM):c.569T>A (p.Ile190Lys) http://identifiers.org/clinvar/142978 ^@ NM_007294.3(BRCA1):c.3289A>T (p.Ser1097Cys) http://identifiers.org/clinvar/142979 ^@ NM_000465.3(BARD1):c.103G>A (p.Ala35Thr) http://identifiers.org/clinvar/142980 ^@ NM_000249.3(MLH1):c.626A>G (p.Asn209Ser) http://identifiers.org/clinvar/142981 ^@ NM_005732.3(RAD50):c.3476-10_3480del15 http://identifiers.org/clinvar/142982 ^@ NM_000314.6(PTEN):c.-1187_-1185delGCA http://identifiers.org/clinvar/142983 ^@ NM_000038.5(APC):c.1571G>C (p.Gly524Ala) http://identifiers.org/clinvar/142984 ^@ NM_004360.4(CDH1):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/142985 ^@ NM_007294.3(BRCA1):c.4177A>G (p.Thr1393Ala) http://identifiers.org/clinvar/142986 ^@ NM_000059.3(BRCA2):c.1849T>C (p.Ser617Pro) http://identifiers.org/clinvar/142987 ^@ NM_000059.3(BRCA2):c.35T>C (p.Phe12Ser) http://identifiers.org/clinvar/142988 ^@ NM_007294.3(BRCA1):c.5413C>T (p.His1805Tyr) http://identifiers.org/clinvar/142989 ^@ NM_000059.3(BRCA2):c.8473G>T (p.Ala2825Ser) http://identifiers.org/clinvar/142990 ^@ NM_000059.3(BRCA2):c.5344C>G (p.Gln1782Glu) http://identifiers.org/clinvar/142991 ^@ NM_000535.6(PMS2):c.1048C>T (p.Leu350Phe) http://identifiers.org/clinvar/142992 ^@ NM_000051.3(ATM):c.566G>A (p.Arg189Lys) http://identifiers.org/clinvar/142993 ^@ NM_000455.4(STK11):c.1249G>T (p.Ala417Ser) http://identifiers.org/clinvar/142994 ^@ NM_000059.3(BRCA2):c.7307A>G (p.Asn2436Ser) http://identifiers.org/clinvar/142995 ^@ NM_000546.5(TP53):c.119T>C (p.Met40Thr) http://identifiers.org/clinvar/142996 ^@ NM_007294.3(BRCA1):c.4250delT (p.Val1417Glyfs) http://identifiers.org/clinvar/142997 ^@ NM_000059.3(BRCA2):c.6115T>A (p.Leu2039Ile) http://identifiers.org/clinvar/142998 ^@ NM_000059.3(BRCA2):c.476-4_476-1delCCAGinsT http://identifiers.org/clinvar/142999 ^@ NM_000314.6(PTEN):c.-1214T>G http://identifiers.org/clinvar/143000 ^@ NM_007294.3(BRCA1):c.358G>A (p.Asp120Asn) http://identifiers.org/clinvar/143001 ^@ NM_000059.3(BRCA2):c.2258T>C (p.Phe753Ser) http://identifiers.org/clinvar/143002 ^@ NM_000249.3(MLH1):c.1172A>G (p.Gln391Arg) http://identifiers.org/clinvar/143003 ^@ NM_001128425.1(MUTYH):c.739C>T (p.Arg247Ter) http://identifiers.org/clinvar/143004 ^@ NM_000038.5(APC):c.1139G>A (p.Arg380Gln) http://identifiers.org/clinvar/143005 ^@ NM_007294.3(BRCA1):c.5476C>A (p.Gln1826Lys) http://identifiers.org/clinvar/143006 ^@ NM_000038.5(APC):c.4711_4713delGAT (p.Asp1571del) http://identifiers.org/clinvar/143007 ^@ NM_000179.2(MSH6):c.2161A>G (p.Arg721Gly) http://identifiers.org/clinvar/143008 ^@ NM_024675.3(PALB2):c.2852C>T (p.Ser951Phe) http://identifiers.org/clinvar/143009 ^@ NM_005732.3(RAD50):c.1832T>C (p.Ile611Thr) http://identifiers.org/clinvar/143010 ^@ NM_000251.2(MSH2):c.2375A>G (p.Asn792Ser) http://identifiers.org/clinvar/143011 ^@ NM_024675.3(PALB2):c.2205delA (p.Ala736Profs) http://identifiers.org/clinvar/143012 ^@ NM_000051.3(ATM):c.4477C>T (p.Leu1493Phe) http://identifiers.org/clinvar/143013 ^@ NM_001042492.2(NF1):c.8494C>T (p.Arg2832Cys) http://identifiers.org/clinvar/143014 ^@ NM_001042492.2(NF1):c.3932C>T (p.Ser1311Phe) http://identifiers.org/clinvar/143015 ^@ NM_005732.3(RAD50):c.2498_2499delAA (p.Gln833Argfs) http://identifiers.org/clinvar/143016 ^@ NM_000051.3(ATM):c.4921G>C (p.Asp1641His) http://identifiers.org/clinvar/143017 ^@ NM_000465.3(BARD1):c.1817_1818delAT (p.His606Argfs) http://identifiers.org/clinvar/143018 ^@ NM_000535.6(PMS2):c.851C>T (p.Ser284Leu) http://identifiers.org/clinvar/143019 ^@ NM_024675.3(PALB2):c.995T>A (p.Leu332His) http://identifiers.org/clinvar/143020 ^@ NM_000314.6(PTEN):c.1061C>A (p.Pro354Gln) http://identifiers.org/clinvar/143021 ^@ NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr) http://identifiers.org/clinvar/143022 ^@ NM_005732.3(RAD50):c.2314G>A (p.Glu772Lys) http://identifiers.org/clinvar/143023 ^@ NM_000179.2(MSH6):c.2189A>G (p.Tyr730Cys) http://identifiers.org/clinvar/143024 ^@ NM_000059.3(BRCA2):c.5715dupT (p.Asn1906Terfs) http://identifiers.org/clinvar/143025 ^@ NM_000051.3(ATM):c.826A>G (p.Lys276Glu) http://identifiers.org/clinvar/143026 ^@ NM_000455.4(STK11):c.1109-12T>C http://identifiers.org/clinvar/143027 ^@ NM_003000.2(SDHB):c.203G>A (p.Cys68Tyr) http://identifiers.org/clinvar/143028 ^@ NM_002485.4(NBN):c.992C>G (p.Thr331Arg) http://identifiers.org/clinvar/143043 ^@ NM_002592.2(PCNA):c.683G>T (p.Ser228Ile) http://identifiers.org/clinvar/143044 ^@ NM_020745.3(AARS2):c.647dupG (p.Cys218Leufs) http://identifiers.org/clinvar/143045 ^@ NM_020745.3(AARS2):c.149T>G (p.Phe50Cys) http://identifiers.org/clinvar/143046 ^@ NM_020745.3(AARS2):c.1561C>T (p.Arg521Ter) http://identifiers.org/clinvar/143047 ^@ NM_020745.3(AARS2):c.2893G>A (p.Gly965Arg) http://identifiers.org/clinvar/143048 ^@ NM_020745.3(AARS2):c.1213G>A (p.Glu405Lys) http://identifiers.org/clinvar/143049 ^@ NM_025150.4(TARS2):c.845C>T (p.Pro282Leu) http://identifiers.org/clinvar/143050 ^@ NM_025150.4(TARS2):c.695+3A>G http://identifiers.org/clinvar/143051 ^@ NM_017909.3(RMND1):c.1349G>C (p.Ter450Ser) http://identifiers.org/clinvar/143053 ^@ NM_003995.3(NPR2):c.2647G>A (p.Val883Met) http://identifiers.org/clinvar/143054 ^@ NM_003995.3(NPR2):c.1963C>T (p.Arg655Cys) http://identifiers.org/clinvar/143055 ^@ NM_003995.3(NPR2):c.1462G>C (p.Ala488Pro) http://identifiers.org/clinvar/143056 ^@ NM_022726.3(ELOVL4):c.504G>C (p.Leu168Phe) http://identifiers.org/clinvar/143057 ^@ NM_004697.4(PRPF4):c.944C>T (p.Pro315Leu) http://identifiers.org/clinvar/143058 ^@ NM_004697.4(PRPF4):c.-114_-97del18 http://identifiers.org/clinvar/143059 ^@ NM_001031734.3(FDX1L):c.10A>T (p.Met4Leu) http://identifiers.org/clinvar/143061 ^@ NM_000180.3(GUCY2D):c.164C>T (p.Thr55Met) http://identifiers.org/clinvar/143062 ^@ NM_000214.2(JAG1):c.1511A>G (p.Asn504Ser) http://identifiers.org/clinvar/143063 ^@ NM_000214.2(JAG1):c.765C>T (p.Tyr255=) http://identifiers.org/clinvar/143064 ^@ NM_000260.3(MYO7A):c.1667G>T (p.Gly556Val) http://identifiers.org/clinvar/143065 ^@ NM_000283.3(PDE6B):c.1467+1G>C http://identifiers.org/clinvar/143066 ^@ NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) http://identifiers.org/clinvar/143067 ^@ NM_000283.3(PDE6B):c.1604T>A (p.Ile535Asn) http://identifiers.org/clinvar/143068 ^@ NM_000283.3(PDE6B):c.993-1G>C http://identifiers.org/clinvar/143069 ^@ NM_000322.4(PRPH2):c.410G>A (p.Gly137Asp) http://identifiers.org/clinvar/143070 ^@ NM_000322.4(PRPH2):c.499G>A (p.Gly167Ser) http://identifiers.org/clinvar/143071 ^@ NM_000327.3(ROM1):c.331dupG (p.Leu114Alafs) http://identifiers.org/clinvar/143072 ^@ NM_000350.2(ABCA4):c.1294G>A (p.Glu432Lys) http://identifiers.org/clinvar/143073 ^@ NM_000350.2(ABCA4):c.1699G>A (p.Val567Met) http://identifiers.org/clinvar/143074 ^@ NM_000350.2(ABCA4):c.2798A>T (p.Asn933Ile) http://identifiers.org/clinvar/143075 ^@ NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) http://identifiers.org/clinvar/143076 ^@ NM_000350.2(ABCA4):c.6119G>A (p.Arg2040Gln) http://identifiers.org/clinvar/143077 ^@ NM_000350.2(ABCA4):c.763C>T (p.Arg255Cys) http://identifiers.org/clinvar/143078 ^@ NM_000390.3(CHM):c.808C>T (p.Arg270Ter) http://identifiers.org/clinvar/143079 ^@ NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) http://identifiers.org/clinvar/143080 ^@ NM_000539.3(RHO):c.520G>A (p.Gly174Ser) http://identifiers.org/clinvar/143081 ^@ NM_000539.3(RHO):c.562G>A (p.Gly188Arg) http://identifiers.org/clinvar/143082 ^@ NM_000539.3(RHO):c.891C>T (p.Ser297=) http://identifiers.org/clinvar/143083 ^@ NM_000539.3(RHO):c.977_980delACCC (p.Pro327Trpfs) http://identifiers.org/clinvar/143084 ^@ NM_000541.4(SAG):c.250C>T (p.Arg84Cys) http://identifiers.org/clinvar/143085 ^@ NM_000554.5(CRX):c.193G>C (p.Asp65His) http://identifiers.org/clinvar/143086 ^@ NM_000554.5(CRX):c.897G>C (p.Leu299Phe) http://identifiers.org/clinvar/143087 ^@ NM_001029883.2(C2orf71):c.2126delG (p.Gly709Glufs) http://identifiers.org/clinvar/143088 ^@ NM_001029883.2(C2orf71):c.2988dupC (p.Thr997Hisfs) http://identifiers.org/clinvar/143089 ^@ NM_001034853.1(RPGR):c.1087_1088insGTAG (p.Val363Glyfs) http://identifiers.org/clinvar/143090 ^@ NM_001034853.1(RPGR):c.1981G>T (p.Glu661Ter) http://identifiers.org/clinvar/143091 ^@ NM_001034853.1(RPGR):c.3396C>T (p.Asn1132=) http://identifiers.org/clinvar/143092 ^@ NM_001034853.1(RPGR):c.785C>G (p.Ala262Gly) http://identifiers.org/clinvar/143093 ^@ NM_000328.2(RPGR):c.894_895delTT (p.Ser298Argfs) http://identifiers.org/clinvar/143094 ^@ NM_001034853.1(RPGR):c.922G>C (p.Ala308Pro) http://identifiers.org/clinvar/143095 ^@ NM_001077620.2(PRCD):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/143096 ^@ NM_001142564.1(CNGA1):c.1046G>A (p.Arg349His) http://identifiers.org/clinvar/143097 ^@ NM_001142564.1(CNGA1):c.1196A>G (p.Asp399Gly) http://identifiers.org/clinvar/143098 ^@ NM_001142564.1(CNGA1):c.1840G>A (p.Gly614Ser) http://identifiers.org/clinvar/143099 ^@ NM_001142564.1(CNGA1):c.398delG (p.Gly133Valfs) http://identifiers.org/clinvar/143100 ^@ NM_001142800.1(EYS):c.1345A>T (p.Lys449Ter) http://identifiers.org/clinvar/143101 ^@ NM_001142800.1(EYS):c.1750G>T (p.Glu584Ter) http://identifiers.org/clinvar/143102 ^@ NM_001142800.1(EYS):c.3489T>A (p.Asn1163Lys) http://identifiers.org/clinvar/143103 ^@ NM_001142800.1(EYS):c.4387delA (p.Arg1463Glyfs) http://identifiers.org/clinvar/143104 ^@ NM_001142800.1(EYS):c.4402_4403insTCAAGAGG (p.Asp1468Valfs) http://identifiers.org/clinvar/143105 ^@ NM_001142800.1(EYS):c.4957dupA (p.Ser1653Lysfs) http://identifiers.org/clinvar/143106 ^@ NM_001142800.1(EYS):c.5014C>T (p.Gln1672Ter) http://identifiers.org/clinvar/143107 ^@ NM_001142800.1(EYS):c.5202_5203delGT (p.Phe1735Glnfs) http://identifiers.org/clinvar/143108 ^@ NM_001142800.1(EYS):c.6557G>A (p.Gly2186Glu) http://identifiers.org/clinvar/143109 ^@ NM_001142800.1(EYS):c.7048delT (p.Cys2350Alafs) http://identifiers.org/clinvar/143110 ^@ NM_001142800.1(EYS):c.7694delA (p.Asn2565Metfs) http://identifiers.org/clinvar/143111 ^@ NM_001142800.1(EYS):c.7793G>A (p.Gly2598Asp) http://identifiers.org/clinvar/143112 ^@ NM_001142800.1(EYS):c.7919G>A (p.Trp2640Ter) http://identifiers.org/clinvar/143113 ^@ NM_001142800.1(EYS):c.8012T>A (p.Leu2671Ter) http://identifiers.org/clinvar/143114 ^@ NM_001142800.1(EYS):c.8379_8380insTGCA (p.Glu2794Cysfs) http://identifiers.org/clinvar/143115 ^@ NM_001142800.1(EYS):c.8805C>A (p.Tyr2935Ter) http://identifiers.org/clinvar/143116 ^@ NM_001142800.1(EYS):c.9209T>C (p.Ile3070Thr) http://identifiers.org/clinvar/143117 ^@ NM_001171.5(ABCC6):c.1233T>C (p.Asn411=) http://identifiers.org/clinvar/143118 ^@ NM_001171.5(ABCC6):c.1760C>G (p.Ser587Cys) http://identifiers.org/clinvar/143119 ^@ NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) http://identifiers.org/clinvar/143120 ^@ NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) http://identifiers.org/clinvar/143121 ^@ NM_001242385.1(MAK):c.340dupG (p.Ala114Glyfs) http://identifiers.org/clinvar/143122 ^@ NM_001242385.1(MAK):c.496C>T (p.Arg166Cys) http://identifiers.org/clinvar/143123 ^@ NM_001242385.1(MAK):c.553G>A (p.Ala185Thr) http://identifiers.org/clinvar/143124 ^@ NM_001297.4(CNGB1):c.217+5G>C http://identifiers.org/clinvar/143125 ^@ NM_001297.4(CNGB1):c.2524dupA (p.Thr842Asnfs) http://identifiers.org/clinvar/143126 ^@ NM_003322.5(TULP1):c.349G>A (p.Glu117Lys) http://identifiers.org/clinvar/143127 ^@ NM_004183.3(BEST1):c.763C>T (p.Arg255Trp) http://identifiers.org/clinvar/143128 ^@ NM_004727.2(SLC24A1):c.2326G>C (p.Glu776Gln) http://identifiers.org/clinvar/143129 ^@ NM_004744.4(LRAT):c.163C>T (p.Arg55Trp) http://identifiers.org/clinvar/143130 ^@ NM_005802.4(TOPORS):c.2554_2557delGAGA (p.Glu852Glnfs) http://identifiers.org/clinvar/143131 ^@ NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) http://identifiers.org/clinvar/143132 ^@ NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) http://identifiers.org/clinvar/143133 ^@ NM_006177.3(NRL):c.23delT (p.Leu8Argfs) http://identifiers.org/clinvar/143134 ^@ NM_006269.1(RP1):c.1186C>T (p.Arg396Ter) http://identifiers.org/clinvar/143135 ^@ NM_006269.1(RP1):c.4876G>A (p.Gly1626Arg) http://identifiers.org/clinvar/143136 ^@ NM_006269.1(RP1):c.5797C>T (p.Arg1933Ter) http://identifiers.org/clinvar/143137 ^@ NM_006269.1(RP1):c.649delG (p.Gly217Glufs) http://identifiers.org/clinvar/143138 ^@ NM_006343.2(MERTK):c.1450G>A (p.Gly484Ser) http://identifiers.org/clinvar/143139 ^@ NM_006343.2(MERTK):c.225delA (p.Gly76Glufs) http://identifiers.org/clinvar/143140 ^@ NM_006343.2(MERTK):c.370C>T (p.Gln124Ter) http://identifiers.org/clinvar/143141 ^@ NM_012193.3(FZD4):c.205C>T (p.His69Tyr) http://identifiers.org/clinvar/143142 ^@ NM_012469.3(PRPF6):c.550G>C (p.Asp184His) http://identifiers.org/clinvar/143143 ^@ NM_014014.4(SNRNP200):c.1871G>A (p.Arg624Lys) http://identifiers.org/clinvar/143144 ^@ NM_014014.4(SNRNP200):c.2042G>A (p.Arg681His) http://identifiers.org/clinvar/143145 ^@ NM_014014.4(SNRNP200):c.2047G>T (p.Val683Leu) http://identifiers.org/clinvar/143146 ^@ NM_014249.3(NR2E3):c.361G>A (p.Glu121Lys) http://identifiers.org/clinvar/143147 ^@ NM_014249.3(NR2E3):c.364C>T (p.Arg122Cys) http://identifiers.org/clinvar/143148 ^@ NM_015629.3(PRPF31):c.562G>T (p.Glu188Ter) http://identifiers.org/clinvar/143149 ^@ NM_015629.3(PRPF31):c.615C>G (p.Tyr205Ter) http://identifiers.org/clinvar/143150 ^@ NM_015629.3(PRPF31):c.764A>T (p.Gln255Leu) http://identifiers.org/clinvar/143151 ^@ NM_016247.3(IMPG2):c.3262C>T (p.Arg1088Ter) http://identifiers.org/clinvar/143152 ^@ NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) http://identifiers.org/clinvar/143153 ^@ NM_018418.4(SPATA7):c.20_23delTCAG (p.Val7Glufs) http://identifiers.org/clinvar/143154 ^@ NM_019098.4(CNGB3):c.1208G>A (p.Arg403Gln) http://identifiers.org/clinvar/143155 ^@ NM_020366.3(RPGRIP1):c.2592T>C (p.Tyr864=) http://identifiers.org/clinvar/143156 ^@ NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) http://identifiers.org/clinvar/143157 ^@ NM_031433.3(MFRP):c.492C>T (p.Tyr164=) http://identifiers.org/clinvar/143158 ^@ NM_032119.3(ADGRV1):c.12403+1G>T http://identifiers.org/clinvar/143159 ^@ NM_032119.3(ADGRV1):c.15736C>T (p.Arg5246Ter) http://identifiers.org/clinvar/143160 ^@ NM_032119.3(ADGRV1):c.7006C>T (p.Arg2336Ter) http://identifiers.org/clinvar/143161 ^@ NM_033028.4(BBS4):c.1414A>G (p.Met472Val) http://identifiers.org/clinvar/143162 ^@ NM_133497.3(KCNV2):c.80G>A (p.Arg27His) http://identifiers.org/clinvar/143163 ^@ NM_152443.2(RDH12):c.776delG (p.Glu260Argfs) http://identifiers.org/clinvar/143164 ^@ NM_178857.5(RP1L1):c.1972C>T (p.Arg658Ter) http://identifiers.org/clinvar/143165 ^@ NM_178857.5(RP1L1):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/143166 ^@ NM_178857.5(RP1L1):c.4273G>C (p.Asp1425His) http://identifiers.org/clinvar/143167 ^@ NM_201253.2(CRB1):c.1576C>T (p.Arg526Ter) http://identifiers.org/clinvar/143168 ^@ NM_206933.2(USH2A):c.10246T>G (p.Cys3416Gly) http://identifiers.org/clinvar/143169 ^@ NM_206933.2(USH2A):c.10544A>G (p.Asp3515Gly) http://identifiers.org/clinvar/143170 ^@ NM_206933.2(USH2A):c.11156G>A (p.Arg3719His) http://identifiers.org/clinvar/143171 ^@ NM_206933.2(USH2A):c.12079C>T (p.Gln4027Ter) http://identifiers.org/clinvar/143172 ^@ NM_206933.2(USH2A):c.13010C>T (p.Thr4337Met) http://identifiers.org/clinvar/143173 ^@ NM_206933.2(USH2A):c.13466G>A (p.Gly4489Asp) http://identifiers.org/clinvar/143174 ^@ NM_206933.2(USH2A):c.13847G>T (p.Gly4616Val) http://identifiers.org/clinvar/143175 ^@ NM_206933.2(USH2A):c.14243C>T (p.Ser4748Phe) http://identifiers.org/clinvar/143176 ^@ NM_206933.2(USH2A):c.14450G>A (p.Gly4817Glu) http://identifiers.org/clinvar/143177 ^@ NM_206933.2(USH2A):c.15233C>G (p.Pro5078Arg) http://identifiers.org/clinvar/143178 ^@ NM_206933.2(USH2A):c.1722_1723insGA (p.Cys575Aspfs) http://identifiers.org/clinvar/143179 ^@ NM_206933.2(USH2A):c.2802T>G (p.Cys934Trp) http://identifiers.org/clinvar/143180 ^@ NM_206933.2(USH2A):c.2983C>T (p.Gln995Ter) http://identifiers.org/clinvar/143181 ^@ NM_206933.2(USH2A):c.3967delA (p.Met1323Terfs) http://identifiers.org/clinvar/143182 ^@ NM_206933.2(USH2A):c.490G>T (p.Val164Phe) http://identifiers.org/clinvar/143183 ^@ NM_206933.2(USH2A):c.6399G>A (p.Trp2133Ter) http://identifiers.org/clinvar/143184 ^@ NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs) http://identifiers.org/clinvar/143185 ^@ NM_206933.2(USH2A):c.9751T>C (p.Cys3251Arg) http://identifiers.org/clinvar/143186 ^@ NM_000124.3(ERCC6):c.543+4delA http://identifiers.org/clinvar/143187 ^@ NM_000263.3(NAGLU):c.1946G>T (p.Trp649Leu) http://identifiers.org/clinvar/143188 ^@ NM_000263.3(NAGLU):c.1949G>A (p.Gly650Glu) http://identifiers.org/clinvar/143189 ^@ NM_000834.3(GRIN2B):c.1238A>G (p.Glu413Gly) http://identifiers.org/clinvar/143190 ^@ NM_001349.3(DARS):c.839A>T (p.His280Leu) http://identifiers.org/clinvar/143191 ^@ NM_003156.3(STIM1):c.343A>T (p.Ile115Phe) http://identifiers.org/clinvar/143192 ^@ NM_004830.3(MED23):c.3638A>G (p.His1213Arg) http://identifiers.org/clinvar/143193 ^@ NM_004830.3(MED23):c.3988C>T (p.Arg1330Ter) http://identifiers.org/clinvar/143194 ^@ NM_015937.5(PIGT):c.1342C>T (p.Arg448Trp) http://identifiers.org/clinvar/143195 ^@ NM_015937.5(PIGT):c.918_919insT (p.Val307Cysfs) http://identifiers.org/clinvar/143196 ^@ NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp) http://identifiers.org/clinvar/143197 ^@ NM_030665.3(RAI1):c.2273G>A (p.Trp758Ter) http://identifiers.org/clinvar/143198 ^@ NM_000069.2(CACNA1S):c.2748C>G (p.His916Gln) http://identifiers.org/clinvar/143199 ^@ NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) http://identifiers.org/clinvar/143200 ^@ NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) http://identifiers.org/clinvar/143201 ^@ NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) http://identifiers.org/clinvar/143202 ^@ NM_001194958.2(KCNJ18):c.127C>T (p.Arg43Cys) http://identifiers.org/clinvar/143203 ^@ NM_001194958.2(KCNJ18):c.419C>T (p.Thr140Met) http://identifiers.org/clinvar/143205 ^@ NM_001194958.2(KCNJ18):c.502G>A (p.Val168Met) http://identifiers.org/clinvar/143206 ^@ NM_001194958.2(KCNJ18):c.598G>C (p.Ala200Pro) http://identifiers.org/clinvar/143207 ^@ NM_001194958.2(KCNJ18):c.1195C>T (p.Arg399Ter) http://identifiers.org/clinvar/143208 ^@ NM_001194958.2(KCNJ18):c.1219C>T (p.Gln407Ter) http://identifiers.org/clinvar/143209 ^@ NM_000257.3(MYH7):c.4442T>C (p.Leu1481Pro) http://identifiers.org/clinvar/143210 ^@ NM_000257.3(MYH7):c.4622A>C (p.Gln1541Pro) http://identifiers.org/clinvar/143211 ^@ NM_000257.3(MYH7):c.4795A>C (p.Thr1599Pro) http://identifiers.org/clinvar/143212 ^@ NM_000257.3(MYH7):c.4823G>C (p.Arg1608Pro) http://identifiers.org/clinvar/143213 ^@ NM_000257.3(MYH7):c.4835T>C (p.Leu1612Pro) http://identifiers.org/clinvar/143214 ^@ NM_000257.3(MYH7):c.4937T>C (p.Leu1646Pro) http://identifiers.org/clinvar/143215 ^@ NM_000257.3(MYH7):c.4985G>C (p.Arg1662Pro) http://identifiers.org/clinvar/143216 ^@ NM_000257.3(MYH7):c.5005_5007delGAG (p.Glu1669del) http://identifiers.org/clinvar/143217 ^@ NM_000257.3(MYH7):c.5186_5188dupAGA (p.Lys1729_Met1730insLys) http://identifiers.org/clinvar/143218 ^@ NM_000257.3(MYH7):c.5378_5380delTGC (p.Leu1793del) http://identifiers.org/clinvar/143219 ^@ NM_000257.3(MYH7):c.4906G>C (p.Ala1636Pro) http://identifiers.org/clinvar/143220 ^@ NM_004327.3(BCR):c.2699A>G (p.Asn900Ser) http://identifiers.org/clinvar/143221 ^@ NM_004327.3(BCR):c.2707+21G>T http://identifiers.org/clinvar/143222 ^@ NM_004327.3(BCR):c.2750T>A (p.Val917Asp) http://identifiers.org/clinvar/143223 ^@ NM_000558.4(HBA1):c.196_207dupGCGCTGACCAAC (p.Ala70_Val71insLeuThrAsnAla) http://identifiers.org/clinvar/143224 ^@ NM_021209.4(NLRC4):c.1022T>C (p.Val341Ala) http://identifiers.org/clinvar/143233 ^@ NM_004076.4(CRYBB3):c.581T>A (p.Val194Glu) http://identifiers.org/clinvar/143235 ^@ NM_015600.4(ABHD12):c.1116C>G (p.His372Gln) http://identifiers.org/clinvar/143236 ^@ NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter) http://identifiers.org/clinvar/143237 ^@ NM_015600.4(ABHD12):c.557G>C (p.Arg186Pro) http://identifiers.org/clinvar/143240 ^@ NM_001844.4(COL2A1):c.4387_4389delATT (p.Ile1463del) http://identifiers.org/clinvar/143245 ^@ NM_032888.3(COL27A1):c.2089G>C (p.Gly697Arg) http://identifiers.org/clinvar/143246 ^@ NM_000076.2(CDKN1C):c.*5+2T>C http://identifiers.org/clinvar/143247 ^@ NM_001844.4(COL2A1):c.3943T>G (p.Cys1315Gly) http://identifiers.org/clinvar/143248 ^@ NM_000041.3(APOE):c.291delG (p.Glu98Asnfs) http://identifiers.org/clinvar/143249 ^@ NM_004992.3(MECP2):c.*1134G>A http://identifiers.org/clinvar/143250 ^@ NM_004992.3(MECP2):c.*122delT http://identifiers.org/clinvar/143251 ^@ NM_004992.3(MECP2):c.*1237T>C http://identifiers.org/clinvar/143252 ^@ NM_004992.3(MECP2):c.*1368C>A http://identifiers.org/clinvar/143253 ^@ NM_004992.3(MECP2):c.*1737G>A http://identifiers.org/clinvar/143254 ^@ NM_004992.3(MECP2):c.*177G>C http://identifiers.org/clinvar/143255 ^@ NM_004992.3(MECP2):c.*204G>A http://identifiers.org/clinvar/143256 ^@ NM_004992.3(MECP2):c.*2556T>A http://identifiers.org/clinvar/143257 ^@ NM_004992.3(MECP2):c.*2657G>A http://identifiers.org/clinvar/143258 ^@ NM_004992.3(MECP2):c.*2706G>A http://identifiers.org/clinvar/143259 ^@ NM_004992.3(MECP2):c.*2956G>A http://identifiers.org/clinvar/143260 ^@ NM_004992.3(MECP2):c.*328G>A http://identifiers.org/clinvar/143261 ^@ NM_004992.3(MECP2):c.*3477G>A http://identifiers.org/clinvar/143262 ^@ NM_004992.3(MECP2):c.*359G>C http://identifiers.org/clinvar/143263 ^@ NM_004992.3(MECP2):c.*363G>C http://identifiers.org/clinvar/143264 ^@ NM_004992.3(MECP2):c.*3658C>T http://identifiers.org/clinvar/143265 ^@ NM_004992.3(MECP2):c.*3662A>G http://identifiers.org/clinvar/143266 ^@ NM_004992.3(MECP2):c.*36G>C http://identifiers.org/clinvar/143267 ^@ NM_004992.3(MECP2):c.*371G>C http://identifiers.org/clinvar/143268 ^@ NM_004992.3(MECP2):c.*3878G>C http://identifiers.org/clinvar/143269 ^@ NM_004992.3(MECP2):c.*393G>A http://identifiers.org/clinvar/143270 ^@ NM_004992.3(MECP2):c.*4086_*4087delGT http://identifiers.org/clinvar/143271 ^@ NM_004992.3(MECP2):c.*4576A>C http://identifiers.org/clinvar/143272 ^@ NM_004992.3(MECP2):c.*487G>C http://identifiers.org/clinvar/143273 ^@ NM_004992.3(MECP2):c.*489G>C http://identifiers.org/clinvar/143274 ^@ NM_004992.3(MECP2):c.*529G>T http://identifiers.org/clinvar/143275 ^@ NM_004992.3(MECP2):c.*5348T>C http://identifiers.org/clinvar/143276 ^@ NM_004992.3(MECP2):c.*544G>A http://identifiers.org/clinvar/143277 ^@ NM_004992.3(MECP2):c.*5486_*5487dupAT http://identifiers.org/clinvar/143278 ^@ NM_004992.3(MECP2):c.*554G>A http://identifiers.org/clinvar/143279 ^@ NM_004992.3(MECP2):c.*55C>G http://identifiers.org/clinvar/143280 ^@ NM_004992.3(MECP2):c.*5839C>T http://identifiers.org/clinvar/143281 ^@ NM_004992.3(MECP2):c.*767G>T http://identifiers.org/clinvar/143282 ^@ NM_004992.3(MECP2):c.*7748C>T http://identifiers.org/clinvar/143283 ^@ NM_004992.3(MECP2):c.*7856A>C http://identifiers.org/clinvar/143284 ^@ NM_004992.3(MECP2):c.*796_*822del27 http://identifiers.org/clinvar/143285 ^@ NM_004992.3(MECP2):c.*806G>A http://identifiers.org/clinvar/143286 ^@ NM_004992.3(MECP2):c.*831G>C http://identifiers.org/clinvar/143287 ^@ NM_004992.3(MECP2):c.*8500C>G http://identifiers.org/clinvar/143288 ^@ NM_004992.3(MECP2):c.*8503delC http://identifiers.org/clinvar/143289 ^@ NM_004992.3(MECP2):c.*8503dupC http://identifiers.org/clinvar/143290 ^@ NM_004992.3(MECP2):c.*861T>G http://identifiers.org/clinvar/143291 ^@ NM_004992.3(MECP2):c.*875dupA http://identifiers.org/clinvar/143292 ^@ NM_004992.3(MECP2):c.*878C>G http://identifiers.org/clinvar/143293 ^@ NM_004992.3(MECP2):c.*8C>T http://identifiers.org/clinvar/143294 ^@ NM_004992.3(MECP2):c.*92C>G http://identifiers.org/clinvar/143295 ^@ NM_004992.3(MECP2):c.*92C>T http://identifiers.org/clinvar/143296 ^@ NM_004992.3(MECP2):c.*93G>A http://identifiers.org/clinvar/143297 ^@ NM_004992.3(MECP2):c.*98dupA http://identifiers.org/clinvar/143298 ^@ NM_004992.3(MECP2):c.*9G>A http://identifiers.org/clinvar/143299 ^@ NM_004992.3(MECP2):c.-15C>T http://identifiers.org/clinvar/143300 ^@ NM_004992.3(MECP2):c.(?_-1)_(26_?)del http://identifiers.org/clinvar/143301 ^@ NM_004992.3(MECP2):c.1-?dup http://identifiers.org/clinvar/143302 ^@ NM_001110792.1(MECP2):c.1040_1073del34 (p.Gly347Alafs) http://identifiers.org/clinvar/143303 ^@ NM_004992.3(MECP2):c.1009_1027del19 (p.Lys337Glyfs) http://identifiers.org/clinvar/143304 ^@ NM_004992.3(MECP2):c.100_103delGATA (p.Asp34Argfs) http://identifiers.org/clinvar/143305 ^@ NM_001110792.1(MECP2):c.1050C>T (p.Thr350=) http://identifiers.org/clinvar/143306 ^@ NM_004992.3(MECP2):c.1015T>C (p.Cys339Arg) http://identifiers.org/clinvar/143307 ^@ NM_004992.3(MECP2):c.1029delG (p.Arg344Glyfs) http://identifiers.org/clinvar/143308 ^@ NM_001110792.1(MECP2):c.1065dupG (p.Arg356Alafs) http://identifiers.org/clinvar/143309 ^@ NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp) http://identifiers.org/clinvar/143310 ^@ NM_004992.3(MECP2):c.1038C>G (p.Ser346Arg) http://identifiers.org/clinvar/143311 ^@ NM_001110792.1(MECP2):c.1079_1092delAGAGCAGCCCCAAG (p.Glu360Glyfs) http://identifiers.org/clinvar/143312 ^@ NM_004992.3(MECP2):c.1048_1095del48 (p.Ser350_Glu365del) http://identifiers.org/clinvar/143313 ^@ NM_001110792.1(MECP2):c.1087_1090delCCCA (p.Pro363Argfs) http://identifiers.org/clinvar/143314 ^@ NM_001110792.1(MECP2):c.1087_1101delCCCAAGGGGCGCAGC (p.Pro363_Ser367del) http://identifiers.org/clinvar/143315 ^@ NM_001110792.1(MECP2):c.1095_1108delGCGCAGCAGCAGCG (p.Arg366Leufs) http://identifiers.org/clinvar/143316 ^@ NM_004992.3(MECP2):c.1061G>A (p.Arg354His) http://identifiers.org/clinvar/143317 ^@ NM_004992.3(MECP2):c.1061G>T (p.Arg354Leu) http://identifiers.org/clinvar/143318 ^@ NM_001110792.1(MECP2):c.1097_1110delGCAGCAGCAGCGCC (p.Arg366Leufs) http://identifiers.org/clinvar/143319 ^@ NM_004992.3(MECP2):c.1065C>T (p.Ser355=) http://identifiers.org/clinvar/143320 ^@ NM_004992.3(MECP2):c.1069_1071delAGC (p.Ser357del) http://identifiers.org/clinvar/143321 ^@ NM_004992.3(MECP2):c.1075T>C (p.Ser359Pro) http://identifiers.org/clinvar/143322 ^@ NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) http://identifiers.org/clinvar/143323 ^@ NM_004992.3(MECP2):c.107_108delAA (p.Lys36Argfs) http://identifiers.org/clinvar/143324 ^@ NM_001110792.1(MECP2):c.143_149delAAGAAGA (p.Lys48Argfs) http://identifiers.org/clinvar/143325 ^@ NM_004992.3(MECP2):c.1081C>G (p.Pro361Ala) http://identifiers.org/clinvar/143326 ^@ NM_004992.3(MECP2):c.1087A>T (p.Lys363Ter) http://identifiers.org/clinvar/143327 ^@ NM_001110792.1(MECP2):c.1124_1151del28 (p.Lys375Thrfs) http://identifiers.org/clinvar/143328 ^@ NM_004992.3(MECP2):c.108_111delAGAA (p.Glu37Argfs) http://identifiers.org/clinvar/143329 ^@ NM_004992.3(MECP2):c.1099_1118del20 (p.His367Argfs) http://identifiers.org/clinvar/143330 ^@ NM_001110792.1(MECP2):c.1140C>T (p.His380=) http://identifiers.org/clinvar/143331 ^@ NM_004992.3(MECP2):c.1104_1106delCCA (p.His372del) http://identifiers.org/clinvar/143332 ^@ NM_001110792.1(MECP2):c.1141_1152delCATCACCACCAC (p.His381_His384del) http://identifiers.org/clinvar/143333 ^@ NM_004992.3(MECP2):c.1105delC (p.His369Ilefs) http://identifiers.org/clinvar/143334 ^@ NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) http://identifiers.org/clinvar/143335 ^@ NM_001110792.1(MECP2):c.1161_1173delCCCAAAGGCCCCC (p.Pro388Cysfs) http://identifiers.org/clinvar/143336 ^@ NM_004992.3(MECP2):c.1127C>G (p.Pro376Arg) http://identifiers.org/clinvar/143337 ^@ NM_001110792.1(MECP2):c.1163_1173delCAAAGGCCCCC (p.Pro388Argfs) http://identifiers.org/clinvar/143338 ^@ NM_001110792.1(MECP2):c.1165_1169delAAGGCinsGAGT (p.Lys389Glufs) http://identifiers.org/clinvar/143339 ^@ NM_001110792.1(MECP2):c.1168_1195del28 (p.Ala390Profs) http://identifiers.org/clinvar/143340 ^@ NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly) http://identifiers.org/clinvar/143341 ^@ NM_004992.3(MECP2):c.1133C>T (p.Ala378Val) http://identifiers.org/clinvar/143342 ^@ NM_004992.3(MECP2):c.1135_1142delCCCGTGCC (p.Pro379Thrfs) http://identifiers.org/clinvar/143343 ^@ NM_001110792.1(MECP2):c.1172_1178delCCGTGCC (p.Pro391Hisfs) http://identifiers.org/clinvar/143344 ^@ NM_004992.3(MECP2):c.1138G>A (p.Val380Met) http://identifiers.org/clinvar/143345 ^@ NM_001110792.1(MECP2):c.1174_1199del26 (p.Val392Thrfs) http://identifiers.org/clinvar/143346 ^@ NM_004992.3(MECP2):c.1141C>G (p.Pro381Ala) http://identifiers.org/clinvar/143347 ^@ NM_004992.3(MECP2):c.1145_1194del50 (p.Leu382Profs) http://identifiers.org/clinvar/143348 ^@ NM_001110792.1(MECP2):c.1183_1212del30 (p.Leu395_Glu404del) http://identifiers.org/clinvar/143349 ^@ NM_004992.3(MECP2):c.1150_1192del43 (p.Pro384Thrfs) http://identifiers.org/clinvar/143350 ^@ NM_004992.3(MECP2):c.1151_1183del33 (p.Pro384_Ser395delinsArg) http://identifiers.org/clinvar/143351 ^@ NM_004992.3(MECP2):c.1151_1188del38 (p.Pro384Argfs) http://identifiers.org/clinvar/143352 ^@ NM_004992.3(MECP2):c.1151_1191del41 (p.Pro384Argfs) http://identifiers.org/clinvar/143353 ^@ NM_001110792.1(MECP2):c.1188_1191delACCC (p.Pro397Cysfs) http://identifiers.org/clinvar/143354 ^@ NM_004992.3(MECP2):c.1152_1195del44 (p.Pro385Hisfs) http://identifiers.org/clinvar/143355 ^@ NM_004992.3(MECP2):c.1153_1190del38 (p.Pro385Glyfs) http://identifiers.org/clinvar/143356 ^@ NM_004992.3(MECP2):c.1154_1185del32 (p.Pro385Leufs) http://identifiers.org/clinvar/143357 ^@ NM_004992.3(MECP2):c.1154_1197del44 (p.Pro385Hisfs) http://identifiers.org/clinvar/143358 ^@ NM_001110792.1(MECP2):c.1191_1208del18 (p.Leu398_Pro403del) http://identifiers.org/clinvar/143359 ^@ NM_004992.3(MECP2):c.1155_1183del29 (p.Pro387Argfs) http://identifiers.org/clinvar/143360 ^@ NM_004992.3(MECP2):c.1155_1200del46 (p.Leu386Alafs) http://identifiers.org/clinvar/143361 ^@ NM_004992.3(MECP2):c.1156_1157dupCT (p.Pro387Cysfs) http://identifiers.org/clinvar/143362 ^@ NM_004992.3(MECP2):c.1156_1172del17 (p.Leu386Terfs) http://identifiers.org/clinvar/143363 ^@ NM_004992.3(MECP2):c.1156_1197del42 (p.Leu386_Pro399del) http://identifiers.org/clinvar/143364 ^@ NM_004992.3(MECP2):c.1156_1200del45 (p.Leu386_Thr400del) http://identifiers.org/clinvar/143365 ^@ NM_004992.3(MECP2):c.1157_1187del31 (p.Leu386Profs) http://identifiers.org/clinvar/143366 ^@ NM_004992.3(MECP2):c.1157_1188del32 (p.Leu386Argfs) http://identifiers.org/clinvar/143367 ^@ NM_004992.3(MECP2):c.1157_1191del35 (p.Leu386Argfs) http://identifiers.org/clinvar/143368 ^@ NM_004992.3(MECP2):c.1157_1192del36 (p.Leu386_Asp398delinsHis) http://identifiers.org/clinvar/143369 ^@ NM_004992.3(MECP2):c.1157_1197del41 (p.Leu386Hisfs) http://identifiers.org/clinvar/143371 ^@ NM_004992.3(MECP2):c.1157_1199del43 (p.Leu386Profs) http://identifiers.org/clinvar/143372 ^@ NM_004992.3(MECP2):c.1157_1200del44 (p.Leu386Glnfs) http://identifiers.org/clinvar/143373 ^@ NM_001110792.1(MECP2):c.1194_1203delGCCCCCACCT (p.Pro399Hisfs) http://identifiers.org/clinvar/143374 ^@ NM_004992.3(MECP2):c.1158_1186del29 (p.Pro387Argfs) http://identifiers.org/clinvar/143375 ^@ NM_004992.3(MECP2):c.1158_1186del29insCCA (p.Pro387Hisfs) http://identifiers.org/clinvar/143376 ^@ NM_004992.3(MECP2):c.1158_1198del41 (p.Pro387Glnfs) http://identifiers.org/clinvar/143377 ^@ NM_004992.3(MECP2):c.1158_1200del43 (p.Pro387Alafs) http://identifiers.org/clinvar/143379 ^@ NM_004992.3(MECP2):c.1159_1160delCCinsT (p.Pro387Serfs) http://identifiers.org/clinvar/143380 ^@ NM_001110792.1(MECP2):c.1195_1210del16 (p.Pro399Serfs) http://identifiers.org/clinvar/143382 ^@ NM_004992.3(MECP2):c.1159_1201del43 (p.Pro387Alafs) http://identifiers.org/clinvar/143383 ^@ NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) http://identifiers.org/clinvar/143384 ^@ NM_004992.3(MECP2):c.1160_1166delCCCCACC (p.Pro387Leufs) http://identifiers.org/clinvar/143385 ^@ NM_004992.3(MECP2):c.1160_1180del21 (p.Pro387_Glu394delinsGln) http://identifiers.org/clinvar/143386 ^@ NM_004992.3(MECP2):c.1160_1185del26 (p.Pro387Leufs) http://identifiers.org/clinvar/143387 ^@ NM_004992.3(MECP2):c.1160_1188del29 (p.Pro387Argfs) http://identifiers.org/clinvar/143388 ^@ NM_004992.3(MECP2):c.1160_1200del41 (p.Pro387Glnfs) http://identifiers.org/clinvar/143389 ^@ NM_001110792.1(MECP2):c.1197_1199delCCC (p.Pro403del) http://identifiers.org/clinvar/143390 ^@ NM_001110792.1(MECP2):c.1197_1202delCCCACC (p.Pro402_Pro403del) http://identifiers.org/clinvar/143391 ^@ NM_001110792.1(MECP2):c.1197_1205delCCCACCTCC (p.Pro401_Pro403del) http://identifiers.org/clinvar/143392 ^@ NM_004992.3(MECP2):c.1161_1205del45insA (p.Pro389Terfs) http://identifiers.org/clinvar/143393 ^@ NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) http://identifiers.org/clinvar/143394 ^@ NM_004992.3(MECP2):c.1162_1163delCC (p.Pro388Thrfs) http://identifiers.org/clinvar/143395 ^@ NM_001110792.1(MECP2):c.1198_1199delCCinsTA (p.Pro400Ter) http://identifiers.org/clinvar/143396 ^@ NM_004992.3(MECP2):c.1162_1179del18 (p.Pro388_Pro393del) http://identifiers.org/clinvar/143397 ^@ NM_004992.3(MECP2):c.1162_1191del30 (p.Pro388_Glu397del) http://identifiers.org/clinvar/143398 ^@ NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) http://identifiers.org/clinvar/143399 ^@ NM_001110792.1(MECP2):c.1199_1209delCACCTCCACCT (p.Pro400Argfs) http://identifiers.org/clinvar/143400 ^@ NM_004992.3(MECP2):c.1163_1179del17 (p.Pro388Argfs) http://identifiers.org/clinvar/143401 ^@ NM_004992.3(MECP2):c.1163_1188del26 (p.Pro388Argfs) http://identifiers.org/clinvar/143402 ^@ NM_004992.3(MECP2):c.1163_1197del35 (p.Pro388Hisfs) http://identifiers.org/clinvar/143403 ^@ NM_004992.3(MECP2):c.1163_1201del39 (p.Pro388_Ser401delinsArg) http://identifiers.org/clinvar/143404 ^@ NM_001110792.1(MECP2):c.1200_1208delACCTCCACC (p.Pro401_Pro403del) http://identifiers.org/clinvar/143405 ^@ NM_004992.3(MECP2):c.1164_1206del43 (p.Pro389Leufs) http://identifiers.org/clinvar/143406 ^@ NM_004992.3(MECP2):c.1164_1207del44 (p.Pro389Terfs) http://identifiers.org/clinvar/143407 ^@ NM_004992.3(MECP2):c.1164_1208del45 (p.Pro389_Pro403del) http://identifiers.org/clinvar/143408 ^@ NM_004992.3(MECP2):c.1164delA (p.Pro389Leufs) http://identifiers.org/clinvar/143409 ^@ NM_004992.3(MECP2):c.1165_1190del26 (p.Pro389Glyfs) http://identifiers.org/clinvar/143410 ^@ NM_001110792.1(MECP2):c.1203_1212delTCCACCTGAG (p.Pro403Argfs) http://identifiers.org/clinvar/143411 ^@ NM_004992.3(MECP2):c.1167_1200del34 (p.Pro390Alafs) http://identifiers.org/clinvar/143412 ^@ NM_004992.3(MECP2):c.1168_1173delCCACCT (p.Pro390_Pro391del) http://identifiers.org/clinvar/143413 ^@ NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?)) http://identifiers.org/clinvar/143414 ^@ NM_004992.3(MECP2):c.1170_1207del38 (p.Pro391Terfs) http://identifiers.org/clinvar/143415 ^@ NM_001110792.1(MECP2):c.1209_1224del16 (p.Glu404Argfs) http://identifiers.org/clinvar/143416 ^@ NM_004992.3(MECP2):c.1176G>A (p.Glu392=) http://identifiers.org/clinvar/143417 ^@ NM_001110792.1(MECP2):c.1212_1229del18 (p.Glu404_Glu409del) http://identifiers.org/clinvar/143418 ^@ NM_001110792.1(MECP2):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/143419 ^@ NM_001110792.1(MECP2):c.1214_1221delCCGAGAGC (p.Pro405Leufs) http://identifiers.org/clinvar/143420 ^@ NM_004992.3(MECP2):c.117dupA (p.Glu40Argfs) http://identifiers.org/clinvar/143421 ^@ NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) http://identifiers.org/clinvar/143422 ^@ NM_004992.3(MECP2):c.1180_1205del26 (p.Glu394Profs) http://identifiers.org/clinvar/143423 ^@ NM_001110792.1(MECP2):c.1217_1227delAGAGCTCCGAG (p.Glu406Glyfs) http://identifiers.org/clinvar/143424 ^@ NM_001110792.1(MECP2):c.1221_1227delCTCCGAG (p.Ser407Argfs) http://identifiers.org/clinvar/143425 ^@ NM_004992.3(MECP2):c.1189G>T (p.Glu397Ter) http://identifiers.org/clinvar/143426 ^@ NM_001110792.1(MECP2):c.1225_1232delGAGGACCC (p.Glu409Hisfs) http://identifiers.org/clinvar/143427 ^@ NM_001110792.1(MECP2):c.1225_1267inv43 (p.Glu409Alafs) http://identifiers.org/clinvar/143428 ^@ NM_004992.3(MECP2):c.1190dupA (p.Asp398Glyfs) http://identifiers.org/clinvar/143429 ^@ NM_004992.3(MECP2):c.1194_1195insT (p.Pro399Serfs) http://identifiers.org/clinvar/143430 ^@ NM_004992.3(MECP2):c.1196C>T (p.Pro399Leu) http://identifiers.org/clinvar/143431 ^@ NM_001110792.1(MECP2):c.1233_1273inv41 (p.Thr412Glnfs) http://identifiers.org/clinvar/143432 ^@ NM_004992.3(MECP2):c.1197dupC (p.Thr400Hisfs) http://identifiers.org/clinvar/143433 ^@ NM_004992.3(MECP2):c.119_120delAG (p.Glu40Glyfs) http://identifiers.org/clinvar/143434 ^@ NM_004992.3(MECP2):c.1200dupC (p.Ser401Glnfs) http://identifiers.org/clinvar/143435 ^@ NM_004992.3(MECP2):c.1202G>A (p.Ser401Asn) http://identifiers.org/clinvar/143436 ^@ NM_004992.3(MECP2):c.1202dupG (p.Ser401Argfs) http://identifiers.org/clinvar/143437 ^@ NM_004992.3(MECP2):c.1206C>T (p.Pro402=) http://identifiers.org/clinvar/143438 ^@ NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) http://identifiers.org/clinvar/143439 ^@ NM_004992.3(MECP2):c.1214_1230del17 (p.Pro405Glnfs) http://identifiers.org/clinvar/143440 ^@ NM_004992.3(MECP2):c.1215C>T (p.Pro405=) http://identifiers.org/clinvar/143441 ^@ NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) http://identifiers.org/clinvar/143442 ^@ NM_004992.3(MECP2):c.1223_1265del43 (p.Leu408Serfs) http://identifiers.org/clinvar/143443 ^@ NM_004992.3(MECP2):c.1229G>A (p.Ser410Asn) http://identifiers.org/clinvar/143444 ^@ NM_001110792.1(MECP2):c.1268_1272delGCGTC (p.Ser423Metfs) http://identifiers.org/clinvar/143445 ^@ NM_001110792.1(MECP2):c.1268_1276delGCGTCTGCA (p.Ser423_Cys425del) http://identifiers.org/clinvar/143446 ^@ NM_004992.3(MECP2):c.1234G>A (p.Val412Ile) http://identifiers.org/clinvar/143447 ^@ NM_004992.3(MECP2):c.1235_1260del26 (p.Val412Glyfs) http://identifiers.org/clinvar/143448 ^@ NM_001110792.1(MECP2):c.1274_1302del29 (p.Cys425Phefs) http://identifiers.org/clinvar/143449 ^@ NM_004992.3(MECP2):c.1239C>T (p.Cys413=) http://identifiers.org/clinvar/143450 ^@ NM_004992.3(MECP2):c.1250A>T (p.Lys417Met) http://identifiers.org/clinvar/143451 ^@ NM_004992.3(MECP2):c.1265_1289del25insAGCGGCCG (p.Gly422Glufs) http://identifiers.org/clinvar/143452 ^@ NM_004992.3(MECP2):c.1266C>T (p.Gly422=) http://identifiers.org/clinvar/143453 ^@ NM_004992.3(MECP2):c.126dupG (p.His43Alafs) http://identifiers.org/clinvar/143454 ^@ NM_004992.3(MECP2):c.1278C>T (p.Ser426=) http://identifiers.org/clinvar/143455 ^@ NM_004992.3(MECP2):c.1284C>T (p.Gly428=) http://identifiers.org/clinvar/143456 ^@ NM_004992.3(MECP2):c.1288C>T (p.Pro430Ser) http://identifiers.org/clinvar/143457 ^@ NM_004992.3(MECP2):c.1308_1309delTC (p.Gln437Alafs) http://identifiers.org/clinvar/143458 ^@ NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) http://identifiers.org/clinvar/143459 ^@ NM_004992.3(MECP2):c.1320dupT (p.Ala441Cysfs) http://identifiers.org/clinvar/143460 ^@ NM_001110792.1(MECP2):c.1358_1366delCCACCGCCG (p.Thr457_Ala459del) http://identifiers.org/clinvar/143461 ^@ NM_004992.3(MECP2):c.1324A>G (p.Thr442Ala) http://identifiers.org/clinvar/143462 ^@ NM_004992.3(MECP2):c.1324_1364del41 (p.Thr442Glyfs) http://identifiers.org/clinvar/143463 ^@ NM_004992.3(MECP2):c.1326C>T (p.Thr442=) http://identifiers.org/clinvar/143464 ^@ NM_001110792.1(MECP2):c.1366_1378delGCCACGGCCGCAG (p.Ala456Lysfs) http://identifiers.org/clinvar/143465 ^@ NM_004992.3(MECP2):c.1339G>A (p.Ala447Thr) http://identifiers.org/clinvar/143466 ^@ NM_004992.3(MECP2):c.1340C>T (p.Ala447Val) http://identifiers.org/clinvar/143467 ^@ NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter) http://identifiers.org/clinvar/143468 ^@ NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) http://identifiers.org/clinvar/143469 ^@ NM_004992.3(MECP2):c.1364_1365insC (p.Glu455Aspfs) http://identifiers.org/clinvar/143470 ^@ NM_004992.3(MECP2):c.1372C>T (p.Arg458Cys) http://identifiers.org/clinvar/143471 ^@ NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?)) http://identifiers.org/clinvar/143472 ^@ NM_001110792.1(MECP2):c.1439_1444delGGCCAA (p.Arg480_Pro481del) http://identifiers.org/clinvar/143473 ^@ NM_004992.3(MECP2):c.140dupA (p.Pro48Alafs) http://identifiers.org/clinvar/143474 ^@ NM_004992.3(MECP2):c.1415_1416delAG (p.Glu472Glyfs) http://identifiers.org/clinvar/143475 ^@ NM_004992.3(MECP2):c.1430G>C (p.Ser477Thr) http://identifiers.org/clinvar/143476 ^@ NM_004992.3(MECP2):c.1436C>T (p.Thr479Met) http://identifiers.org/clinvar/143477 ^@ NM_004992.3(MECP2):c.1438C>T (p.Pro480Ser) http://identifiers.org/clinvar/143478 ^@ NM_004992.3(MECP2):c.1446C>T (p.Thr482=) http://identifiers.org/clinvar/143479 ^@ NM_001110792.1(MECP2):c.1484_*29del43 http://identifiers.org/clinvar/143480 ^@ NM_001110792.1(MECP2):c.1485G>C (p.Glu495Asp) http://identifiers.org/clinvar/143481 ^@ NM_004992.3(MECP2):c.1450_*12del24 http://identifiers.org/clinvar/143482 ^@ NM_004992.3(MECP2):c.1450_1453delAGAG (p.Arg484Leufs) http://identifiers.org/clinvar/143483 ^@ NM_004992.3(MECP2):c.1451G>C (p.Arg484Thr) http://identifiers.org/clinvar/143484 ^@ NM_001110792.1(MECP2):c.1488_1489dupAG (p.Val497Glufs) http://identifiers.org/clinvar/143485 ^@ NM_001110792.1(MECP2):c.1490_1493delTTAG (p.Val497Alafs) http://identifiers.org/clinvar/143486 ^@ NM_004992.3(MECP2):c.1455_1456dupTA (p.Ser486Ilefs) http://identifiers.org/clinvar/143487 ^@ NM_001110792.1(MECP2):c.1495T>C (p.Ter499Arg) http://identifiers.org/clinvar/143488 ^@ NM_001110792.1(MECP2):c.1496G>T (p.Ter499Leu) http://identifiers.org/clinvar/143489 ^@ NM_004992.3(MECP2):c.1461A>C (p.Ter487Cys) http://identifiers.org/clinvar/143490 ^@ NM_004992.3(MECP2):c.1461A>G (p.Ter487Trp) http://identifiers.org/clinvar/143491 ^@ NM_004992.3(MECP2):c.146C>A (p.Ser49Ter) http://identifiers.org/clinvar/143492 ^@ NM_004992.3(MECP2):c.146C>G (p.Ser49Ter) http://identifiers.org/clinvar/143493 ^@ NM_004992.3(MECP2):c.153C>G (p.His51Gln) http://identifiers.org/clinvar/143494 ^@ NM_004992.3(MECP2):c.155A>G (p.His52Arg) http://identifiers.org/clinvar/143496 ^@ NM_004992.3(MECP2):c.168C>T (p.Pro56=) http://identifiers.org/clinvar/143497 ^@ NM_004992.3(MECP2):c.189_190delGA (p.Glu63Aspfs) http://identifiers.org/clinvar/143498 ^@ NM_004992.3(MECP2):c.194C>G (p.Ser65Ter) http://identifiers.org/clinvar/143499 ^@ NM_004992.3(MECP2):c.201delG (p.Ser68Glnfs) http://identifiers.org/clinvar/143500 ^@ NM_004992.3(MECP2):c.203C>G (p.Ser68Ter) http://identifiers.org/clinvar/143501 ^@ NM_004992.3(MECP2):c.215C>T (p.Pro72Leu) http://identifiers.org/clinvar/143502 ^@ NM_004992.3(MECP2):c.215_216insT (p.Ala73Glyfs) http://identifiers.org/clinvar/143503 ^@ NM_004992.3(MECP2):c.215dupC (p.Ala73Glyfs) http://identifiers.org/clinvar/143504 ^@ NM_004992.3(MECP2):c.224C>T (p.Pro75Leu) http://identifiers.org/clinvar/143505 ^@ NM_004992.3(MECP2):c.225G>A (p.Pro75=) http://identifiers.org/clinvar/143506 ^@ NM_001110792.1(MECP2):c.265_274delGCTTCTGCCT (p.Ala89Profs) http://identifiers.org/clinvar/143507 ^@ NM_004992.3(MECP2):c.233delC (p.Ser78Leufs) http://identifiers.org/clinvar/143508 ^@ NM_004992.3(MECP2):c.243dupC (p.Lys82Glnfs) http://identifiers.org/clinvar/143509 ^@ NM_004992.3(MECP2):c.245A>G (p.Lys82Arg) http://identifiers.org/clinvar/143510 ^@ NM_004992.3(MECP2):c.257C>G (p.Ser86Cys) http://identifiers.org/clinvar/143511 ^@ NM_004992.3(MECP2):c.258_259delCA (p.Ile87Hisfs) http://identifiers.org/clinvar/143512 ^@ NM_004992.3(MECP2):c.274G>T (p.Gly92Ter) http://identifiers.org/clinvar/143513 ^@ NM_004992.3(MECP2):c.275dupG (p.Pro93Thrfs) http://identifiers.org/clinvar/143514 ^@ NM_001110792.1(MECP2):c.312_313insG (p.Pro105Alafs) http://identifiers.org/clinvar/143515 ^@ NM_004992.3(MECP2):c.277C>T (p.Pro93Ser) http://identifiers.org/clinvar/143516 ^@ NM_004992.3(MECP2):c.279C>T (p.Pro93=) http://identifiers.org/clinvar/143517 ^@ NM_004992.3(MECP2):c.289G>T (p.Asp97Tyr) http://identifiers.org/clinvar/143518 ^@ NM_004992.3(MECP2):c.28G>C (p.Glu10Gln) http://identifiers.org/clinvar/143519 ^@ NM_004992.3(MECP2):c.28G>T (p.Glu10Ter) http://identifiers.org/clinvar/143520 ^@ NM_004992.3(MECP2):c.291C>A (p.Asp97Glu) http://identifiers.org/clinvar/143521 ^@ NM_004992.3(MECP2):c.295_297delACC (p.Thr99del) http://identifiers.org/clinvar/143522 ^@ NM_004992.3(MECP2):c.297C>G (p.Thr99=) http://identifiers.org/clinvar/143523 ^@ NM_004992.3(MECP2):c.299T>G (p.Leu100Arg) http://identifiers.org/clinvar/143524 ^@ NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) http://identifiers.org/clinvar/143525 ^@ NM_004992.3(MECP2):c.302C>A (p.Pro101His) http://identifiers.org/clinvar/143526 ^@ NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) http://identifiers.org/clinvar/143527 ^@ NM_004992.3(MECP2):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/143528 ^@ NM_004992.3(MECP2):c.308G>A (p.Gly103Asp) http://identifiers.org/clinvar/143529 ^@ NM_004992.3(MECP2):c.310T>C (p.Trp104Arg) http://identifiers.org/clinvar/143530 ^@ NM_004992.3(MECP2):c.311G>A (p.Trp104Ter) http://identifiers.org/clinvar/143531 ^@ NM_001110792.1(MECP2):c.347_359delGGACACGGAAGCT (p.Trp116Leufs) http://identifiers.org/clinvar/143532 ^@ NM_004992.3(MECP2):c.315dupA (p.Arg106Thrfs) http://identifiers.org/clinvar/143533 ^@ NM_004992.3(MECP2):c.316C>G (p.Arg106Gly) http://identifiers.org/clinvar/143534 ^@ NM_004992.3(MECP2):c.317G>A (p.Arg106Gln) http://identifiers.org/clinvar/143535 ^@ NM_004992.3(MECP2):c.317G>T (p.Arg106Leu) http://identifiers.org/clinvar/143536 ^@ NM_004992.3(MECP2):c.323T>A (p.Leu108His) http://identifiers.org/clinvar/143537 ^@ NM_004992.3(MECP2):c.326dupA (p.Gln110Alafs) http://identifiers.org/clinvar/143538 ^@ NM_004992.3(MECP2):c.331A>G (p.Arg111Gly) http://identifiers.org/clinvar/143539 ^@ NM_001110792.1(MECP2):c.370A>T (p.Lys124Ter) http://identifiers.org/clinvar/143540 ^@ NM_004992.3(MECP2):c.341G>C (p.Gly114Ala) http://identifiers.org/clinvar/143541 ^@ NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) http://identifiers.org/clinvar/143542 ^@ NM_004992.3(MECP2):c.345delC (p.Ser116Leufs) http://identifiers.org/clinvar/143543 ^@ NM_004992.3(MECP2):c.358T>G (p.Tyr120Asp) http://identifiers.org/clinvar/143544 ^@ NM_001110792.1(MECP2):c.71_78dupAGTCAGAA (p.Asp27Serfs) http://identifiers.org/clinvar/143545 ^@ NM_004992.3(MECP2):c.362A>G (p.Asp121Gly) http://identifiers.org/clinvar/143546 ^@ NM_004992.3(MECP2):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/143547 ^@ NM_004992.3(MECP2):c.365T>C (p.Val122Ala) http://identifiers.org/clinvar/143548 ^@ NM_004992.3(MECP2):c.36G>C (p.Lys12Asn) http://identifiers.org/clinvar/143549 ^@ NM_004992.3(MECP2):c.372G>C (p.Leu124Phe) http://identifiers.org/clinvar/143550 ^@ NM_004992.3(MECP2):c.372G>T (p.Leu124Phe) http://identifiers.org/clinvar/143551 ^@ NM_004992.3(MECP2):c.375delC (p.Asn126Ilefs) http://identifiers.org/clinvar/143552 ^@ NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) http://identifiers.org/clinvar/143553 ^@ NM_004992.3(MECP2):c.382C>T (p.Gln128Ter) http://identifiers.org/clinvar/143554 ^@ NM_004992.3(MECP2):c.383A>C (p.Gln128Pro) http://identifiers.org/clinvar/143555 ^@ NM_004992.3(MECP2):c.386G>T (p.Gly129Val) http://identifiers.org/clinvar/143556 ^@ NM_004992.3(MECP2):c.392C>A (p.Ala131Asp) http://identifiers.org/clinvar/143557 ^@ NM_004992.3(MECP2):c.393C>G (p.Ala131=) http://identifiers.org/clinvar/143558 ^@ NM_004992.3(MECP2):c.397C>G (p.Arg133Gly) http://identifiers.org/clinvar/143559 ^@ NM_004992.3(MECP2):c.398G>A (p.Arg133His) http://identifiers.org/clinvar/143560 ^@ NM_004992.3(MECP2):c.398G>T (p.Arg133Leu) http://identifiers.org/clinvar/143561 ^@ NM_004992.3(MECP2):c.400T>C (p.Ser134Pro) http://identifiers.org/clinvar/143562 ^@ NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) http://identifiers.org/clinvar/143563 ^@ NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) http://identifiers.org/clinvar/143564 ^@ NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) http://identifiers.org/clinvar/143565 ^@ NM_004992.3(MECP2):c.411delG (p.Glu137Aspfs) http://identifiers.org/clinvar/143566 ^@ NM_004992.3(MECP2):c.413T>A (p.Leu138Ter) http://identifiers.org/clinvar/143567 ^@ NM_004992.3(MECP2):c.413T>C (p.Leu138Ser) http://identifiers.org/clinvar/143568 ^@ NM_004992.3(MECP2):c.420delG (p.Tyr141Thrfs) http://identifiers.org/clinvar/143569 ^@ NM_004992.3(MECP2):c.422A>G (p.Tyr141Cys) http://identifiers.org/clinvar/143570 ^@ NM_004992.3(MECP2):c.422dupA (p.Tyr141Terfs) http://identifiers.org/clinvar/143571 ^@ NM_004992.3(MECP2):c.428_429insT (p.Glu143Aspfs) http://identifiers.org/clinvar/143572 ^@ NM_004992.3(MECP2):c.430A>T (p.Lys144Ter) http://identifiers.org/clinvar/143573 ^@ NM_004992.3(MECP2):c.431delA (p.Lys144Argfs) http://identifiers.org/clinvar/143574 ^@ NM_001110792.1(MECP2):c.474C>T (p.Gly158=) http://identifiers.org/clinvar/143575 ^@ NM_004992.3(MECP2):c.439G>A (p.Asp147Asn) http://identifiers.org/clinvar/143576 ^@ NM_004992.3(MECP2):c.439delG (p.Asp147Thrfs) http://identifiers.org/clinvar/143577 ^@ NM_004992.3(MECP2):c.451delG (p.Asp151Thrfs) http://identifiers.org/clinvar/143578 ^@ NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) http://identifiers.org/clinvar/143579 ^@ NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) http://identifiers.org/clinvar/143580 ^@ NM_004992.3(MECP2):c.463T>A (p.Phe155Ile) http://identifiers.org/clinvar/143581 ^@ NM_004992.3(MECP2):c.464T>G (p.Phe155Cys) http://identifiers.org/clinvar/143582 ^@ NM_004992.3(MECP2):c.467A>C (p.Asp156Ala) http://identifiers.org/clinvar/143583 ^@ NM_004992.3(MECP2):c.467A>G (p.Asp156Gly) http://identifiers.org/clinvar/143584 ^@ NM_001110792.1(MECP2):c.504C>T (p.Asp168=) http://identifiers.org/clinvar/143585 ^@ NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) http://identifiers.org/clinvar/143586 ^@ NM_004992.3(MECP2):c.46C>T (p.Gln16Ter) http://identifiers.org/clinvar/143587 ^@ NM_004992.3(MECP2):c.470_471delTC (p.Phe157Tyrfs) http://identifiers.org/clinvar/143588 ^@ NM_004992.3(MECP2):c.470dupT (p.Thr158Hisfs) http://identifiers.org/clinvar/143589 ^@ NM_004992.3(MECP2):c.471C>G (p.Phe157Leu) http://identifiers.org/clinvar/143590 ^@ NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) http://identifiers.org/clinvar/143591 ^@ NM_004992.3(MECP2):c.474G>A (p.Thr158=) http://identifiers.org/clinvar/143592 ^@ NM_004992.3(MECP2):c.475delG (p.Val159Terfs) http://identifiers.org/clinvar/143593 ^@ NM_004992.3(MECP2):c.479C>G (p.Thr160Ser) http://identifiers.org/clinvar/143594 ^@ NM_004992.3(MECP2):c.480_481delTG (p.Gly161Glufs) http://identifiers.org/clinvar/143595 ^@ NM_004992.3(MECP2):c.480delT (p.Arg162Glufs) http://identifiers.org/clinvar/143596 ^@ NM_004992.3(MECP2):c.481G>T (p.Gly161Trp) http://identifiers.org/clinvar/143597 ^@ NM_004992.3(MECP2):c.482G>A (p.Gly161Glu) http://identifiers.org/clinvar/143598 ^@ NM_004992.3(MECP2):c.482G>T (p.Gly161Val) http://identifiers.org/clinvar/143599 ^@ NM_004992.3(MECP2):c.483delG (p.Arg162Glufs) http://identifiers.org/clinvar/143600 ^@ NM_004992.3(MECP2):c.484dupA (p.Arg162Lysfs) http://identifiers.org/clinvar/143601 ^@ NM_004992.3(MECP2):c.488_489delGG (p.Gly163Glufs) http://identifiers.org/clinvar/143602 ^@ NM_004992.3(MECP2):c.495delC (p.Ser166Profs) http://identifiers.org/clinvar/143603 ^@ NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) http://identifiers.org/clinvar/143604 ^@ NM_004992.3(MECP2):c.508C>T (p.Gln170Ter) http://identifiers.org/clinvar/143605 ^@ NM_004992.3(MECP2):c.50dupA (p.Asp17Glufs) http://identifiers.org/clinvar/143606 ^@ NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) http://identifiers.org/clinvar/143607 ^@ NM_004992.3(MECP2):c.515C>T (p.Pro172Leu) http://identifiers.org/clinvar/143608 ^@ NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) http://identifiers.org/clinvar/143609 ^@ NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) http://identifiers.org/clinvar/143610 ^@ NM_004992.3(MECP2):c.523A>T (p.Lys175Ter) http://identifiers.org/clinvar/143611 ^@ NM_004992.3(MECP2):c.527C>G (p.Pro176Arg) http://identifiers.org/clinvar/143612 ^@ NM_001110792.1(MECP2):c.564C>G (p.Pro188=) http://identifiers.org/clinvar/143613 ^@ NM_004992.3(MECP2):c.529A>T (p.Lys177Ter) http://identifiers.org/clinvar/143614 ^@ NM_004992.3(MECP2):c.531delA (p.Lys177Asnfs) http://identifiers.org/clinvar/143615 ^@ NM_004992.3(MECP2):c.538A>T (p.Lys180Ter) http://identifiers.org/clinvar/143616 ^@ NM_004992.3(MECP2):c.542C>T (p.Ala181Val) http://identifiers.org/clinvar/143617 ^@ NM_004992.3(MECP2):c.543_544delTC (p.Pro182Argfs) http://identifiers.org/clinvar/143618 ^@ NM_004992.3(MECP2):c.547G>C (p.Gly183Arg) http://identifiers.org/clinvar/143619 ^@ NM_004992.3(MECP2):c.554delG (p.Gly185Alafs) http://identifiers.org/clinvar/143620 ^@ NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) http://identifiers.org/clinvar/143621 ^@ NM_004992.3(MECP2):c.566delG (p.Gly189Aspfs) http://identifiers.org/clinvar/143622 ^@ NM_004992.3(MECP2):c.566dupG (p.Arg190Thrfs) http://identifiers.org/clinvar/143623 ^@ NM_004992.3(MECP2):c.567dupA (p.Arg190Thrfs) http://identifiers.org/clinvar/143624 ^@ NM_004992.3(MECP2):c.56dupA (p.Leu21Profs) http://identifiers.org/clinvar/143625 ^@ NM_004992.3(MECP2):c.573C>T (p.Pro191=) http://identifiers.org/clinvar/143626 ^@ NM_004992.3(MECP2):c.585C>T (p.Gly195=) http://identifiers.org/clinvar/143627 ^@ NM_004992.3(MECP2):c.587C>G (p.Thr196Ser) http://identifiers.org/clinvar/143628 ^@ NM_004992.3(MECP2):c.591G>A (p.Thr197=) http://identifiers.org/clinvar/143629 ^@ NM_004992.3(MECP2):c.592A>T (p.Arg198Ter) http://identifiers.org/clinvar/143630 ^@ NM_004992.3(MECP2):c.596C>A (p.Pro199His) http://identifiers.org/clinvar/143631 ^@ NM_004992.3(MECP2):c.598A>T (p.Lys200Ter) http://identifiers.org/clinvar/143632 ^@ NM_004992.3(MECP2):c.601dupG (p.Ala201Glyfs) http://identifiers.org/clinvar/143633 ^@ NM_004992.3(MECP2):c.608_609insA (p.Ser204Valfs) http://identifiers.org/clinvar/143634 ^@ NM_004992.3(MECP2):c.609G>A (p.Thr203=) http://identifiers.org/clinvar/143635 ^@ NM_001110792.1(MECP2):c.647_648delCAinsAG (p.Ser216Ter) http://identifiers.org/clinvar/143636 ^@ NM_004992.3(MECP2):c.613G>T (p.Glu205Ter) http://identifiers.org/clinvar/143637 ^@ NM_001110792.1(MECP2):c.653G>A (p.Gly218Asp) http://identifiers.org/clinvar/143638 ^@ NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) http://identifiers.org/clinvar/143639 ^@ NM_004992.3(MECP2):c.617delG (p.Gly206Valfs) http://identifiers.org/clinvar/143640 ^@ NM_004992.3(MECP2):c.620dupT (p.Gln208Alafs) http://identifiers.org/clinvar/143641 ^@ NM_004992.3(MECP2):c.622C>T (p.Gln208Ter) http://identifiers.org/clinvar/143642 ^@ NM_004992.3(MECP2):c.629A>T (p.Lys210Ile) http://identifiers.org/clinvar/143643 ^@ NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?)) http://identifiers.org/clinvar/143644 ^@ NM_004992.3(MECP2):c.633G>C (p.Arg211Ser) http://identifiers.org/clinvar/143645 ^@ NM_004992.3(MECP2):c.635_655del21 (p.Val212_Lys219delinsGlu) http://identifiers.org/clinvar/143646 ^@ NM_001110792.1(MECP2):c.677_689delAGAAAAGTCCTGG (p.Glu226Glyfs) http://identifiers.org/clinvar/143647 ^@ NM_004992.3(MECP2):c.64A>T (p.Lys22Ter) http://identifiers.org/clinvar/143648 ^@ NM_004992.3(MECP2):c.651_652delTG (p.Gly218Glufs) http://identifiers.org/clinvar/143649 ^@ NM_004992.3(MECP2):c.654_657delGAAG (p.Lys219Serfs) http://identifiers.org/clinvar/143650 ^@ NM_004992.3(MECP2):c.660C>T (p.Leu220=) http://identifiers.org/clinvar/143651 ^@ NM_004992.3(MECP2):c.666C>G (p.Val222=) http://identifiers.org/clinvar/143652 ^@ NM_004992.3(MECP2):c.673C>A (p.Pro225Thr) http://identifiers.org/clinvar/143653 ^@ NM_004992.3(MECP2):c.674C>G (p.Pro225Arg) http://identifiers.org/clinvar/143654 ^@ NM_004992.3(MECP2):c.676_677insA (p.Phe226Tyrfs) http://identifiers.org/clinvar/143655 ^@ NM_004992.3(MECP2):c.677_678insA (p.Phe226Leufs) http://identifiers.org/clinvar/143656 ^@ NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) http://identifiers.org/clinvar/143657 ^@ NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) http://identifiers.org/clinvar/143658 ^@ NM_004992.3(MECP2):c.686C>A (p.Ser229Ter) http://identifiers.org/clinvar/143659 ^@ NM_004992.3(MECP2):c.686C>T (p.Ser229Leu) http://identifiers.org/clinvar/143660 ^@ NM_004992.3(MECP2):c.690A>C (p.Pro230=) http://identifiers.org/clinvar/143661 ^@ NM_004992.3(MECP2):c.695G>C (p.Gly232Ala) http://identifiers.org/clinvar/143662 ^@ NM_004992.3(MECP2):c.695delG (p.Gly232Alafs) http://identifiers.org/clinvar/143663 ^@ NM_004992.3(MECP2):c.695dupG (p.Lys233Glnfs) http://identifiers.org/clinvar/143664 ^@ NM_004992.3(MECP2):c.696delC (p.Lys233Argfs) http://identifiers.org/clinvar/143665 ^@ NM_001110792.1(MECP2):c.746G>T (p.Gly249Val) http://identifiers.org/clinvar/143666 ^@ NM_004992.3(MECP2):c.710dupG (p.Gly238Trpfs) http://identifiers.org/clinvar/143667 ^@ NM_004992.3(MECP2):c.715delG (p.Ala239Profs) http://identifiers.org/clinvar/143668 ^@ NM_004992.3(MECP2):c.720C>G (p.Thr240=) http://identifiers.org/clinvar/143669 ^@ NM_004992.3(MECP2):c.720C>T (p.Thr240=) http://identifiers.org/clinvar/143670 ^@ NM_004992.3(MECP2):c.720dupC (p.Thr241Hisfs) http://identifiers.org/clinvar/143671 ^@ NM_004992.3(MECP2):c.734_759del26 (p.Val245Glufs) http://identifiers.org/clinvar/143672 ^@ NM_004992.3(MECP2):c.736_737insAT (p.Met246Asnfs) http://identifiers.org/clinvar/143673 ^@ NM_001110792.1(MECP2):c.772_779delATGGTGATinsGTG (p.Met258Valfs) http://identifiers.org/clinvar/143674 ^@ NM_004992.3(MECP2):c.739delG (p.Val247Terfs) http://identifiers.org/clinvar/143675 ^@ NM_001110792.1(MECP2):c.783_787dupACGCC (p.Pro263Hisfs) http://identifiers.org/clinvar/143676 ^@ NM_004992.3(MECP2):c.748_749insT (p.Arg250Leufs) http://identifiers.org/clinvar/143677 ^@ NM_001110792.1(MECP2):c.784_789delCGCCCCinsGGCCG (p.Arg262Glyfs) http://identifiers.org/clinvar/143678 ^@ NM_004992.3(MECP2):c.748dupC (p.Arg250Profs) http://identifiers.org/clinvar/143679 ^@ NM_004992.3(MECP2):c.749G>A (p.Arg250His) http://identifiers.org/clinvar/143680 ^@ NM_004992.3(MECP2):c.750C>A (p.Arg250=) http://identifiers.org/clinvar/143681 ^@ NM_004992.3(MECP2):c.750C>T (p.Arg250=) http://identifiers.org/clinvar/143682 ^@ NM_001110792.1(MECP2):c.786delCinsTCAGGAAGCTT (p.Pro263Glnfs) http://identifiers.org/clinvar/143683 ^@ NM_004992.3(MECP2):c.752C>T (p.Pro251Leu) http://identifiers.org/clinvar/143684 ^@ NM_004992.3(MECP2):c.752_753dupCC (p.Gly252Profs) http://identifiers.org/clinvar/143686 ^@ NM_004992.3(MECP2):c.753C>T (p.Pro251=) http://identifiers.org/clinvar/143687 ^@ NM_004992.3(MECP2):c.753delC (p.Gly252Alafs) http://identifiers.org/clinvar/143688 ^@ NM_004992.3(MECP2):c.753dupC (p.Gly252Argfs) http://identifiers.org/clinvar/143689 ^@ NM_004992.3(MECP2):c.755delG (p.Gly252Alafs) http://identifiers.org/clinvar/143690 ^@ NM_004992.3(MECP2):c.755dupG (p.Arg253Glnfs) http://identifiers.org/clinvar/143691 ^@ NM_004992.3(MECP2):c.756_759delCAGG (p.Arg253Serfs) http://identifiers.org/clinvar/143692 ^@ NM_001110792.1(MECP2):c.792_799dupCAGGAAGC (p.Arg267Profs) http://identifiers.org/clinvar/143693 ^@ NM_004992.3(MECP2):c.760A>T (p.Lys254Ter) http://identifiers.org/clinvar/143694 ^@ NM_001110792.1(MECP2):c.802_815dupAAAGCTGAGGCCGA (p.Asp272Glufs) http://identifiers.org/clinvar/143695 ^@ NM_004992.3(MECP2):c.76delC (p.Leu26Serfs) http://identifiers.org/clinvar/143696 ^@ NM_004992.3(MECP2):c.784C>T (p.Gln262Ter) http://identifiers.org/clinvar/143697 ^@ NM_004992.3(MECP2):c.792_793delTC (p.Pro265Glnfs) http://identifiers.org/clinvar/143698 ^@ NM_004992.3(MECP2):c.795C>G (p.Pro265=) http://identifiers.org/clinvar/143699 ^@ NM_004992.3(MECP2):c.799A>T (p.Lys267Ter) http://identifiers.org/clinvar/143700 ^@ NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) http://identifiers.org/clinvar/143701 ^@ NM_001110792.1(MECP2):c.844C>G (p.Arg282Gly) http://identifiers.org/clinvar/143702 ^@ NM_004992.3(MECP2):c.808delC (p.Arg270Glufs) http://identifiers.org/clinvar/143703 ^@ NM_004992.3(MECP2):c.810_813delAAAG (p.Lys271Argfs) http://identifiers.org/clinvar/143704 ^@ NM_001110792.1(MECP2):c.848_854delAGCCGGG (p.Lys283Argfs) http://identifiers.org/clinvar/143705 ^@ NM_004992.3(MECP2):c.816_832del17 (p.Gly273Argfs) http://identifiers.org/clinvar/143706 ^@ NM_004992.3(MECP2):c.819G>T (p.Gly273=) http://identifiers.org/clinvar/143707 ^@ NM_004992.3(MECP2):c.819delG (p.Ser274Valfs) http://identifiers.org/clinvar/143708 ^@ NM_004992.3(MECP2):c.830delC (p.Ala277Glufs) http://identifiers.org/clinvar/143709 ^@ NM_004992.3(MECP2):c.834C>T (p.Ala278=) http://identifiers.org/clinvar/143710 ^@ NM_004992.3(MECP2):c.836C>T (p.Ala279Val) http://identifiers.org/clinvar/143711 ^@ NM_001110792.1(MECP2):c.885C>G (p.Ala295=) http://identifiers.org/clinvar/143712 ^@ NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) http://identifiers.org/clinvar/143713 ^@ NM_004992.3(MECP2):c.854dupA (p.Lys286Glufs) http://identifiers.org/clinvar/143714 ^@ NM_004992.3(MECP2):c.856_859delAAAG (p.Lys286Profs) http://identifiers.org/clinvar/143715 ^@ NM_004992.3(MECP2):c.857A>G (p.Lys286Arg) http://identifiers.org/clinvar/143716 ^@ NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) http://identifiers.org/clinvar/143717 ^@ NM_004992.3(MECP2):c.864dupG (p.Lys289Glufs) http://identifiers.org/clinvar/143718 ^@ NM_004992.3(MECP2):c.865A>T (p.Lys289Ter) http://identifiers.org/clinvar/143719 ^@ NM_004992.3(MECP2):c.865_866delAA (p.Lys289Glyfs) http://identifiers.org/clinvar/143720 ^@ NM_004992.3(MECP2):c.869dupA (p.Ser291Valfs) http://identifiers.org/clinvar/143721 ^@ NM_004992.3(MECP2):c.871T>G (p.Ser291Ala) http://identifiers.org/clinvar/143722 ^@ NM_004992.3(MECP2):c.874_875insA (p.Ser292Tyrfs) http://identifiers.org/clinvar/143723 ^@ NM_001110792.1(MECP2):c.916_920delCGATC (p.Arg306Cysfs) http://identifiers.org/clinvar/143724 ^@ NM_004992.3(MECP2):c.881G>C (p.Arg294Pro) http://identifiers.org/clinvar/143725 ^@ NM_004992.3(MECP2):c.881_902del22 (p.Arg294Profs) http://identifiers.org/clinvar/143726 ^@ NM_004992.3(MECP2):c.883delT (p.Ser295Leufs) http://identifiers.org/clinvar/143727 ^@ NM_004992.3(MECP2):c.889C>T (p.Gln297Ter) http://identifiers.org/clinvar/143728 ^@ NM_001110792.1(MECP2):c.934_937delGTAC (p.Val312Serfs) http://identifiers.org/clinvar/143729 ^@ NM_001110792.1(MECP2):c.934_940delGTACTCC (p.Val312Profs) http://identifiers.org/clinvar/143730 ^@ NM_004992.3(MECP2):c.898delG (p.Val300Tyrfs) http://identifiers.org/clinvar/143731 ^@ NM_001110792.1(MECP2):c.936_944delACTCCCCAT (p.Leu313_Ile315del) http://identifiers.org/clinvar/143732 ^@ NM_004992.3(MECP2):c.903C>T (p.Leu301=) http://identifiers.org/clinvar/143733 ^@ NM_004992.3(MECP2):c.904C>A (p.Pro302Thr) http://identifiers.org/clinvar/143734 ^@ NM_004992.3(MECP2):c.904C>G (p.Pro302Ala) http://identifiers.org/clinvar/143735 ^@ NM_004992.3(MECP2):c.904C>T (p.Pro302Ser) http://identifiers.org/clinvar/143736 ^@ NM_004992.3(MECP2):c.905C>A (p.Pro302His) http://identifiers.org/clinvar/143737 ^@ NM_004992.3(MECP2):c.905C>G (p.Pro302Arg) http://identifiers.org/clinvar/143738 ^@ NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) http://identifiers.org/clinvar/143739 ^@ NM_004992.3(MECP2):c.906C>G (p.Pro302=) http://identifiers.org/clinvar/143740 ^@ NM_004992.3(MECP2):c.906delC (p.Ile303Serfs) http://identifiers.org/clinvar/143741 ^@ NM_004992.3(MECP2):c.908T>G (p.Ile303Ser) http://identifiers.org/clinvar/143742 ^@ NM_004992.3(MECP2):c.910A>G (p.Lys304Glu) http://identifiers.org/clinvar/143743 ^@ NM_004992.3(MECP2):c.911A>G (p.Lys304Arg) http://identifiers.org/clinvar/143744 ^@ NM_004992.3(MECP2):c.913A>G (p.Lys305Glu) http://identifiers.org/clinvar/143745 ^@ NM_004992.3(MECP2):c.914A>G (p.Lys305Arg) http://identifiers.org/clinvar/143746 ^@ NM_004992.3(MECP2):c.917G>A (p.Arg306His) http://identifiers.org/clinvar/143747 ^@ NM_001110792.1(MECP2):c.953G>T (p.Arg318Leu) http://identifiers.org/clinvar/143748 ^@ NM_004992.3(MECP2):c.91delG (p.Val31Terfs) http://identifiers.org/clinvar/143749 ^@ NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) http://identifiers.org/clinvar/143750 ^@ NM_004992.3(MECP2):c.942C>T (p.Ile314=) http://identifiers.org/clinvar/143751 ^@ NM_004992.3(MECP2):c.948C>G (p.Val316=) http://identifiers.org/clinvar/143752 ^@ NM_004992.3(MECP2):c.953A>C (p.Glu318Ala) http://identifiers.org/clinvar/143753 ^@ NM_004992.3(MECP2):c.964C>G (p.Pro322Ala) http://identifiers.org/clinvar/143754 ^@ NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) http://identifiers.org/clinvar/143755 ^@ NM_001110792.1(MECP2):c.1001_1006delCCCTGC (p.Pro334_Leu335del) http://identifiers.org/clinvar/143756 ^@ NM_004992.3(MECP2):c.982C>G (p.Leu328Val) http://identifiers.org/clinvar/143757 ^@ NM_004992.3(MECP2):c.984C>A (p.Leu328=) http://identifiers.org/clinvar/143758 ^@ NM_004992.3(MECP2):c.984C>T (p.Leu328=) http://identifiers.org/clinvar/143759 ^@ NM_004992.3(MECP2):c.985G>A (p.Gly329Ser) http://identifiers.org/clinvar/143760 ^@ NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) http://identifiers.org/clinvar/143761 ^@ NM_004992.3(MECP2):c.992A>G (p.Lys331Arg) http://identifiers.org/clinvar/143762 ^@ NM_001110792.1(MECP2):c.1028_1030delAGA (p.Lys343del) http://identifiers.org/clinvar/143763 ^@ NM_004992.3(MECP2):c.994_998delAGCGG (p.Ser332Glufs) http://identifiers.org/clinvar/143764 ^@ NM_004992.3(MECP2):c.996C>T (p.Ser332=) http://identifiers.org/clinvar/143765 ^@ NM_004992.3(MECP2):c.999G>T (p.Gly333=) http://identifiers.org/clinvar/143766 ^@ NM_003159.2(CDKL5):c.*15C>T http://identifiers.org/clinvar/143767 ^@ NM_003159.2(CDKL5):c.1039C>T (p.Gln347Ter) http://identifiers.org/clinvar/143768 ^@ NM_003159.2(CDKL5):c.1079delT (p.Leu360Profs) http://identifiers.org/clinvar/143769 ^@ NM_003159.2(CDKL5):c.1082dupC (p.Ala362Cysfs) http://identifiers.org/clinvar/143770 ^@ NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) http://identifiers.org/clinvar/143771 ^@ NM_003159.2(CDKL5):c.1238C>G (p.Ser413Ter) http://identifiers.org/clinvar/143772 ^@ NM_003159.2(CDKL5):c.125A>G (p.Lys42Arg) http://identifiers.org/clinvar/143773 ^@ NM_003159.2(CDKL5):c.1278A>C (p.Ser426=) http://identifiers.org/clinvar/143774 ^@ NM_003159.2(CDKL5):c.1311dupC (p.Ser438Glnfs) http://identifiers.org/clinvar/143775 ^@ NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) http://identifiers.org/clinvar/143776 ^@ NM_003159.2(CDKL5):c.1382A>G (p.Asn461Ser) http://identifiers.org/clinvar/143777 ^@ NM_003159.2(CDKL5):c.1400A>C (p.His467Pro) http://identifiers.org/clinvar/143778 ^@ NM_003159.2(CDKL5):c.1523T>C (p.Ile508Thr) http://identifiers.org/clinvar/143779 ^@ NM_003159.2(CDKL5):c.163_166delGAAA (p.Glu55Argfs) http://identifiers.org/clinvar/143780 ^@ NM_003159.2(CDKL5):c.1648C>T (p.Arg550Ter) http://identifiers.org/clinvar/143781 ^@ NM_003159.2(CDKL5):c.1675C>T (p.Arg559Ter) http://identifiers.org/clinvar/143782 ^@ NM_003159.2(CDKL5):c.1708G>T (p.Glu570Ter) http://identifiers.org/clinvar/143783 ^@ NM_003159.2(CDKL5):c.175C>T (p.Arg59Ter) http://identifiers.org/clinvar/143784 ^@ NM_003159.2(CDKL5):c.1767C>T (p.His589=) http://identifiers.org/clinvar/143785 ^@ NM_003159.2(CDKL5):c.183delT (p.Met63Cysfs) http://identifiers.org/clinvar/143786 ^@ NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) http://identifiers.org/clinvar/143787 ^@ NM_003159.2(CDKL5):c.1892_1893dupTA (p.Gly632Terfs) http://identifiers.org/clinvar/143788 ^@ NM_003159.2(CDKL5):c.191T>C (p.Leu64Pro) http://identifiers.org/clinvar/143789 ^@ NM_003159.2(CDKL5):c.194G>A (p.Arg65Gln) http://identifiers.org/clinvar/143790 ^@ NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter) http://identifiers.org/clinvar/143791 ^@ NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) http://identifiers.org/clinvar/143792 ^@ NM_003159.2(CDKL5):c.2016delC (p.Ser673Leufs) http://identifiers.org/clinvar/143793 ^@ NM_003159.2(CDKL5):c.2016dupC (p.Ser673Leufs) http://identifiers.org/clinvar/143794 ^@ NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?) http://identifiers.org/clinvar/143795 ^@ NM_003159.2(CDKL5):c.2066delC (p.Pro689Hisfs) http://identifiers.org/clinvar/143796 ^@ NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) http://identifiers.org/clinvar/143797 ^@ NM_003159.2(CDKL5):c.215T>A (p.Ile72Asn) http://identifiers.org/clinvar/143798 ^@ NM_003159.2(CDKL5):c.216T>A (p.Ile72=) http://identifiers.org/clinvar/143799 ^@ NM_003159.2(CDKL5):c.229_232delGAAG (p.Glu77Hisfs) http://identifiers.org/clinvar/143800 ^@ NM_003159.2(CDKL5):c.2325_2326delGA (p.Lys776Alafs) http://identifiers.org/clinvar/143801 ^@ NM_003159.2(CDKL5):c.2343delG (p.Arg781Serfs) http://identifiers.org/clinvar/143802 ^@ NM_003159.2(CDKL5):c.2363_2367delAGAAA (p.Lys788Ilefs) http://identifiers.org/clinvar/143803 ^@ NM_003159.2(CDKL5):c.2378T>C (p.Val793Ala) http://identifiers.org/clinvar/143804 ^@ NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) http://identifiers.org/clinvar/143805 ^@ NM_003159.2(CDKL5):c.2504delC (p.Pro835Hisfs) http://identifiers.org/clinvar/143806 ^@ NM_003159.2(CDKL5):c.2529delA (p.Leu843Phefs) http://identifiers.org/clinvar/143807 ^@ NM_003159.2(CDKL5):c.2572delC (p.Arg858Alafs) http://identifiers.org/clinvar/143808 ^@ NM_003159.2(CDKL5):c.2593C>T (p.Gln865Ter) http://identifiers.org/clinvar/143809 ^@ NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) http://identifiers.org/clinvar/143810 ^@ NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) http://identifiers.org/clinvar/143811 ^@ NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) http://identifiers.org/clinvar/143812 ^@ NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) http://identifiers.org/clinvar/143813 ^@ NM_003159.2(CDKL5):c.2984T>G (p.Phe995Cys) http://identifiers.org/clinvar/143814 ^@ NM_003159.2(CDKL5):c.3003C>G (p.His1001Gln) http://identifiers.org/clinvar/143815 ^@ NM_003159.2(CDKL5):c.3012G>T (p.Arg1004Ser) http://identifiers.org/clinvar/143816 ^@ NM_003159.2(CDKL5):c.3084G>C (p.Thr1028=) http://identifiers.org/clinvar/143817 ^@ NM_003159.2(CDKL5):c.352C>T (p.Gln118Ter) http://identifiers.org/clinvar/143818 ^@ NM_003159.2(CDKL5):c.380A>G (p.His127Arg) http://identifiers.org/clinvar/143819 ^@ NM_003159.2(CDKL5):c.39delT (p.Phe13Leufs) http://identifiers.org/clinvar/143820 ^@ NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter) http://identifiers.org/clinvar/143821 ^@ NM_003159.2(CDKL5):c.425T>A (p.Leu142Ter) http://identifiers.org/clinvar/143822 ^@ NM_003159.2(CDKL5):c.513C>A (p.Tyr171Ter) http://identifiers.org/clinvar/143823 ^@ NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) http://identifiers.org/clinvar/143824 ^@ NM_003159.2(CDKL5):c.539C>T (p.Pro180Leu) http://identifiers.org/clinvar/143825 ^@ NM_003159.2(CDKL5):c.549dupA (p.Leu184Thrfs) http://identifiers.org/clinvar/143826 ^@ NM_003159.2(CDKL5):c.578A>G (p.Asp193Gly) http://identifiers.org/clinvar/143827 ^@ NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu) http://identifiers.org/clinvar/143828 ^@ NM_003159.2(CDKL5):c.58G>C (p.Gly20Arg) http://identifiers.org/clinvar/143829 ^@ NM_003159.2(CDKL5):c.607G>T (p.Glu203Ter) http://identifiers.org/clinvar/143830 ^@ NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) http://identifiers.org/clinvar/143831 ^@ NM_003159.2(CDKL5):c.65dupG (p.Ala23Serfs) http://identifiers.org/clinvar/143832 ^@ NM_003159.2(CDKL5):c.680T>G (p.Leu227Arg) http://identifiers.org/clinvar/143833 ^@ NM_003159.2(CDKL5):c.801_802delTA (p.Asn267Lysfs) http://identifiers.org/clinvar/143834 ^@ NM_003159.2(CDKL5):c.838_847delTTGGACCCAG (p.Asp281Thrfs) http://identifiers.org/clinvar/143835 ^@ NM_003159.2(CDKL5):c.855A>C (p.Arg285Ser) http://identifiers.org/clinvar/143836 ^@ NM_003159.2(CDKL5):c.867dupA (p.Gln290Thrfs) http://identifiers.org/clinvar/143837 ^@ NM_003159.2(CDKL5):c.884delC (p.Pro295Leufs) http://identifiers.org/clinvar/143838 ^@ NM_003159.2(CDKL5):c.902_903dupGA (p.Leu302Aspfs) http://identifiers.org/clinvar/143839 ^@ NM_003159.2(CDKL5):c.904C>T (p.Leu302Phe) http://identifiers.org/clinvar/143840 ^@ NM_003159.2(CDKL5):c.964dupA (p.Thr322Asnfs) http://identifiers.org/clinvar/143841 ^@ NM_000151.3(G6PC):c.665G>A (p.Gly222Glu) http://identifiers.org/clinvar/143857 ^@ NM_012216.3(MID2):c.1040G>A (p.Arg347Gln) http://identifiers.org/clinvar/143858 ^@ NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) http://identifiers.org/clinvar/143859 ^@ NM_001122955.3(BSCL2):c.538G>T (p.Glu180Ter) http://identifiers.org/clinvar/143861 ^@ NM_198282.3(TMEM173):c.461A>G (p.Asn154Ser) http://identifiers.org/clinvar/143862 ^@ NM_198282.3(TMEM173):c.463G>A (p.Val155Met) http://identifiers.org/clinvar/143863 ^@ NM_198282.3(TMEM173):c.439G>C (p.Val147Leu) http://identifiers.org/clinvar/143864 ^@ NC_012920.1:m.14743A>G http://identifiers.org/clinvar/143865 ^@ NC_012920.1:m.14753C>T http://identifiers.org/clinvar/143866 ^@ NC_012920.1:m.14784T>C http://identifiers.org/clinvar/143867 ^@ NC_012920.1:m.14800C>T http://identifiers.org/clinvar/143868 ^@ NC_012920.1:m.14891C>G http://identifiers.org/clinvar/143869 ^@ NC_012920.1:m.14950C>T http://identifiers.org/clinvar/143870 ^@ NC_012920.1:m.14968T>C http://identifiers.org/clinvar/143871 ^@ NC_012920.1:m.14974C>G http://identifiers.org/clinvar/143872 ^@ NC_012920.1:m.15001T>C http://identifiers.org/clinvar/143873 ^@ NC_012920.1:m.15049C>T http://identifiers.org/clinvar/143874 ^@ NC_012920.1:m.15058C>T http://identifiers.org/clinvar/143875 ^@ NC_012920.1:m.15098A>G http://identifiers.org/clinvar/143876 ^@ NC_012920.1:m.15214T>C http://identifiers.org/clinvar/143877 ^@ NC_012920.1:m.15226A>G http://identifiers.org/clinvar/143878 ^@ NC_012920.1:m.15289T>C http://identifiers.org/clinvar/143879 ^@ NC_012920.1:m.15314G>A http://identifiers.org/clinvar/143880 ^@ NC_012920.1:m.15323G>A http://identifiers.org/clinvar/143881 ^@ NC_012920.1:m.15328A>G http://identifiers.org/clinvar/143882 ^@ NC_012920.1:m.15334C>T http://identifiers.org/clinvar/143883 ^@ NC_012920.1:m.15346G>A http://identifiers.org/clinvar/143884 ^@ NC_012920.1:m.15349C>A http://identifiers.org/clinvar/143885 ^@ NC_012920.1:m.15349C>T http://identifiers.org/clinvar/143886 ^@ NC_012920.1:m.15355G>A http://identifiers.org/clinvar/143887 ^@ NC_012920.1:m.15363A>G http://identifiers.org/clinvar/143888 ^@ NC_012920.1:m.15385C>T http://identifiers.org/clinvar/143889 ^@ NC_012920.1:m.15453T>C http://identifiers.org/clinvar/143890 ^@ NC_012920.1:m.15458T>C http://identifiers.org/clinvar/143891 ^@ NC_012920.1:m.15459C>T http://identifiers.org/clinvar/143892 ^@ NC_012920.1:m.15470T>C http://identifiers.org/clinvar/143893 ^@ NC_012920.1:m.15511T>C http://identifiers.org/clinvar/143894 ^@ NC_012920.1:m.15553G>A http://identifiers.org/clinvar/143895 ^@ NC_012920.1:m.15637C>T http://identifiers.org/clinvar/143896 ^@ NC_012920.1:m.15649A>G http://identifiers.org/clinvar/143897 ^@ NC_012920.1:m.15682A>G http://identifiers.org/clinvar/143898 ^@ NC_012920.1:m.15758A>G http://identifiers.org/clinvar/143899 ^@ NC_012920.1:m.15784T>C http://identifiers.org/clinvar/143900 ^@ NC_012920.1:m.15884G>A http://identifiers.org/clinvar/143901 ^@ NC_012920.1:m.15890C>A http://identifiers.org/clinvar/143902 ^@ NC_012920.1:m.15927G>A http://identifiers.org/clinvar/143903 ^@ NC_012920.1:m.15928G>A http://identifiers.org/clinvar/143904 ^@ NC_012920.1:m.15932T>G http://identifiers.org/clinvar/143905 ^@ NC_012920.1:m.15943T>C http://identifiers.org/clinvar/143910 ^@ NM_000767.4(CYP2B6):c.186T>A (p.Tyr62Ter) http://identifiers.org/clinvar/143911 ^@ NM_000767.4(CYP2B6):c.1132C>T (p.Arg378Ter) http://identifiers.org/clinvar/143912 ^@ NM_000767.4(CYP2B6):c.593T>C (p.Met198Thr) http://identifiers.org/clinvar/143913 ^@ NM_000367.4(TPMT):c.420-4G>A http://identifiers.org/clinvar/143915 ^@ NM_032018.6(SPRTN):c.718_718+3delGGTA http://identifiers.org/clinvar/143916 ^@ NM_032018.6(SPRTN):c.350A>G (p.Tyr117Cys) http://identifiers.org/clinvar/143918 ^@ NC_012920.1:m.14732A>G http://identifiers.org/clinvar/143919 ^@ NC_012920.1:m.14905G>A http://identifiers.org/clinvar/143920 ^@ NC_012920.1:m.14935T>C http://identifiers.org/clinvar/143921 ^@ NC_012920.1:m.15061A>G http://identifiers.org/clinvar/143922 ^@ NC_012920.1:m.15148G>A http://identifiers.org/clinvar/143923 ^@ NC_012920.1:m.15259C>T http://identifiers.org/clinvar/143924 ^@ NC_012920.1:m.15431G>A http://identifiers.org/clinvar/143925 ^@ NC_012920.1:m.15452C>A http://identifiers.org/clinvar/143926 ^@ NC_012920.1:m.15607A>G http://identifiers.org/clinvar/143927 ^@ NC_012920.1:m.15670T>C http://identifiers.org/clinvar/143931 ^@ NM_006767.3(LZTR1):c.27delG (p.Gln10Argfs) http://identifiers.org/clinvar/143932 ^@ NM_001080449.2(DNA2):c.3114+6delC http://identifiers.org/clinvar/143933 ^@ NM_001166111.1(PNPLA6):c.1732G>T (p.Gly578Trp) http://identifiers.org/clinvar/143934 ^@ NM_006831.2(CLP1):c.419G>A (p.Arg140His) http://identifiers.org/clinvar/143945 ^@ NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln) http://identifiers.org/clinvar/143946 ^@ NM_005407.2(SALL2):c.85G>T (p.Glu29Ter) http://identifiers.org/clinvar/143947 ^@ NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) http://identifiers.org/clinvar/143960 ^@ NC_000001.11:g.231487317_231487320delATTT http://identifiers.org/clinvar/143961 ^@ NM_024675.3(PALB2):c.1108C>T (p.Gln370Ter) http://identifiers.org/clinvar/143962 ^@ NM_024675.3(PALB2):c.1431delC (p.Ser478Leufs) http://identifiers.org/clinvar/143963 ^@ NM_024675.3(PALB2):c.156delA (p.Glu53Lysfs) http://identifiers.org/clinvar/143964 ^@ NM_024675.3(PALB2):c.1571C>G (p.Ser524Ter) http://identifiers.org/clinvar/143965 ^@ NM_024675.3(PALB2):c.1591_1600delTTGCCAACTT (p.Pro532Alafs) http://identifiers.org/clinvar/143966 ^@ NM_024675.3(PALB2):c.2074C>T (p.Gln692Ter) http://identifiers.org/clinvar/143967 ^@ NM_024675.3(PALB2):c.2787_2788delTA (p.Tyr929Terfs) http://identifiers.org/clinvar/143968 ^@ NM_024675.3(PALB2):c.2834+1G>T http://identifiers.org/clinvar/143969 ^@ NM_024675.3(PALB2):c.2888delC (p.Ser963Leufs) http://identifiers.org/clinvar/143972 ^@ NM_024675.3(PALB2):c.3201+1G>C http://identifiers.org/clinvar/143974 ^@ NM_024675.3(PALB2):c.3426dupA (p.Leu1143Thrfs) http://identifiers.org/clinvar/143975 ^@ NM_024675.3(PALB2):c.3497_3498delGT (p.Gly1166Aspfs) http://identifiers.org/clinvar/143977 ^@ NM_024675.3(PALB2):c.451C>T (p.Gln151Ter) http://identifiers.org/clinvar/143978 ^@ NM_024675.3(PALB2):c.48G>A (p.Lys16=) http://identifiers.org/clinvar/143979 ^@ NM_024675.3(PALB2):c.886delA (p.Met296Terfs) http://identifiers.org/clinvar/143980 ^@ NM_024675.3(PALB2):c.956_962delCTAATTT (p.Ser319Terfs) http://identifiers.org/clinvar/143981 ^@ NM_001759.3(CCND2):c.838A>G (p.Thr280Ala) http://identifiers.org/clinvar/143982 ^@ NM_001759.3(CCND2):c.808A>T (p.Lys270Ter) http://identifiers.org/clinvar/143983 ^@ NM_001759.3(CCND2):c.839C>A (p.Thr280Asn) http://identifiers.org/clinvar/143984 ^@ NM_001759.3(CCND2):c.841C>T (p.Pro281Ser) http://identifiers.org/clinvar/143985 ^@ NM_001759.3(CCND2):c.842C>G (p.Pro281Arg) http://identifiers.org/clinvar/143986 ^@ NM_001759.3(CCND2):c.842C>T (p.Pro281Leu) http://identifiers.org/clinvar/143989 ^@ NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) http://identifiers.org/clinvar/143990 ^@ NM_005027.3(PIK3R2):c.1202T>C (p.Leu401Pro) http://identifiers.org/clinvar/143991 ^@ NM_173596.2(SLC39A5):c.141C>G (p.Tyr47Ter) http://identifiers.org/clinvar/143992 ^@ NM_173596.2(SLC39A5):c.911T>C (p.Met304Thr) http://identifiers.org/clinvar/143993 ^@ NM_022773.2(LMF1):c.1391G>A (p.Trp464Ter) http://identifiers.org/clinvar/143995 ^@ NM_000506.4(F2):c.*96C>T http://identifiers.org/clinvar/143996 ^@ NM_000506.4(F2):c.1726-59G>A http://identifiers.org/clinvar/144003 ^@ NM_001256849.1(POLD1):c.1421T>C (p.Leu474Pro) http://identifiers.org/clinvar/144004 ^@ NM_007315.3(STAT1):c.537C>A (p.Asn179Lys) http://identifiers.org/clinvar/144005 ^@ NM_007315.3(STAT1):c.854A>G (p.Gln285Arg) http://identifiers.org/clinvar/144006 ^@ NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) http://identifiers.org/clinvar/144007 ^@ NM_012281.2(KCND2):c.1210G>A (p.Val404Met) http://identifiers.org/clinvar/144008 ^@ NM_198935.2(SS18L1):c.1162C>T (p.Gln388Ter) http://identifiers.org/clinvar/144009 ^@ NM_198935.2(SS18L1):c.369T>G (p.Ile123Met) http://identifiers.org/clinvar/144010 ^@ NM_198935.2(SS18L1):c.660_668delCAGCCAGGG (p.Gln222_Ser224del) http://identifiers.org/clinvar/144011 ^@ NM_080860.3(RSPH1):c.281G>A (p.Trp94Ter) http://identifiers.org/clinvar/144012 ^@ NM_178172.5(GPIHBP1):c.166G>C (p.Gly56Arg) http://identifiers.org/clinvar/144013 ^@ NM_178172.5(GPIHBP1):c.344A>C (p.Gln115Pro) http://identifiers.org/clinvar/144014 ^@ NM_178172.5(GPIHBP1):c.194G>C (p.Cys65Ser) http://identifiers.org/clinvar/144015 ^@ NM_178172.5(GPIHBP1):c.202T>G (p.Cys68Gly) http://identifiers.org/clinvar/144016 ^@ NM_178172.5(GPIHBP1):c.523G>C (p.Gly175Arg) http://identifiers.org/clinvar/144017 ^@ NM_178172.5(GPIHBP1):c.266G>T (p.Cys89Phe) http://identifiers.org/clinvar/144018 ^@ NM_178172.5(GPIHBP1):c.331A>C (p.Thr111Pro) http://identifiers.org/clinvar/144019 ^@ NM_178172.5(GPIHBP1):c.417_433del17 (p.Pro140Serfs) http://identifiers.org/clinvar/144020 ^@ NM_178172.5(GPIHBP1):c.194G>A (p.Cys65Tyr) http://identifiers.org/clinvar/144021 ^@ NM_178172.5(GPIHBP1):c.320C>G (p.Ser107Cys) http://identifiers.org/clinvar/144022 ^@ GPIHBP1, DEL http://identifiers.org/clinvar/144023 ^@ NM_001080510.4(METTL23):c.169_172delCACT (p.His57Valfs) http://identifiers.org/clinvar/144024 ^@ NM_001080510.4(METTL23):c.282_286delAGATA (p.Gln94Hisfs) http://identifiers.org/clinvar/144025 ^@ NM_001080510.4(METTL23):c.397C>T (p.Gln133Ter) http://identifiers.org/clinvar/144030 ^@ NM_139276.2(STAT3):c.1175A>G (p.Lys392Arg) http://identifiers.org/clinvar/144031 ^@ NM_003150.3(STAT3):c.1938C>G (p.Asn646Lys) http://identifiers.org/clinvar/144032 ^@ NM_003150.3(STAT3):c.1974G>C (p.Lys658Asn) http://identifiers.org/clinvar/144033 ^@ NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) http://identifiers.org/clinvar/144034 ^@ NM_016495.5(TBC1D7):c.18_21delGAGA (p.Arg7Thrfs) http://identifiers.org/clinvar/144036 ^@ COA6, TRP59CYS http://identifiers.org/clinvar/144037 ^@ NM_001206641.2(COA6):c.349G>T (p.Glu117Ter) http://identifiers.org/clinvar/144038 ^@ NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter) http://identifiers.org/clinvar/144039 ^@ NM_001286577.1(C2CD3):c.3085T>G (p.Cys1029Gly) http://identifiers.org/clinvar/144040 ^@ NM_015531.5(C2CD3):c.3911-2A>T http://identifiers.org/clinvar/144046 ^@ NM_018389.4(SLC35C1):c.503_505delTCT (p.Phe168del) http://identifiers.org/clinvar/144049 ^@ NM_006662.2(SRCAP):c.7000C>T (p.Gln2334Ter) http://identifiers.org/clinvar/183661 ^@ NM_017534.5(MYH2):c.904+1G>A http://identifiers.org/clinvar/183662 ^@ NM_017534.5(MYH2):c.2347C>T (p.Arg783Ter) http://identifiers.org/clinvar/183663 ^@ NM_017534.5(MYH2):c.1975-2A>G http://identifiers.org/clinvar/183664 ^@ NM_017534.5(MYH2):c.2405T>A (p.Leu802Ter) http://identifiers.org/clinvar/183665 ^@ NM_017534.5(MYH2):c.2400delG (p.Phe801Serfs) http://identifiers.org/clinvar/183666 ^@ NM_017534.5(MYH2):c.706G>A (p.Ala236Thr) http://identifiers.org/clinvar/183667 ^@ NM_017534.5(MYH2):c.533C>T (p.Thr178Ile) http://identifiers.org/clinvar/183668 ^@ NM_138691.2(TMC1):c.1253T>A (p.Met418Lys) http://identifiers.org/clinvar/183669 ^@ NM_000086.2(CLN3):c.494G>A (p.Gly165Glu) http://identifiers.org/clinvar/183670 ^@ NM_030973.3(MED25):c.418C>T (p.Arg140Trp) http://identifiers.org/clinvar/183671 ^@ NM_015330.4(SPECC1L):c.1189A>C (p.Thr397Pro) http://identifiers.org/clinvar/183672 ^@ NM_015330.4(SPECC1L):c.3247G>A (p.Gly1083Ser) http://identifiers.org/clinvar/183677 ^@ NM_001025295.2(IFITM5):c.119C>T (p.Ser40Leu) http://identifiers.org/clinvar/183678 ^@ NM_001429.3(EP300):c.4933C>T (p.Arg1645Ter) http://identifiers.org/clinvar/183682 ^@ NM_003263.3(TLR1):c.1547T>A (p.Met516Lys) http://identifiers.org/clinvar/183681 ^@ NM_003263.3(TLR1):c.1504G>A (p.Val502Ile) http://identifiers.org/clinvar/183680 ^@ NM_003263.3(TLR1):c.1414G>A (p.Glu472Lys) http://identifiers.org/clinvar/183679 ^@ NM_003263.3(TLR1):c.798G>A (p.Gln266=) http://identifiers.org/clinvar/183684 ^@ NM_001059.2(TACR3):c.692C>T (p.Thr231Ile) http://identifiers.org/clinvar/183685 ^@ NM_023110.2(FGFR1):c.565C>T (p.Arg189Cys) http://identifiers.org/clinvar/183683 ^@ NM_000216.3(ANOS1):c.1420G>A (p.Gly474Arg) http://identifiers.org/clinvar/183686 ^@ NM_000245.3(MET):c.2521T>G (p.Phe841Val) http://identifiers.org/clinvar/183687 ^@ NM_002427.3(MMP13):c.619T>G (p.Trp207Gly) http://identifiers.org/clinvar/183688 ^@ NM_002427.3(MMP13):c.325C>T (p.Arg109Ter) http://identifiers.org/clinvar/183689 ^@ NM_016519.5(AMBN):c.294+139_531+478del http://identifiers.org/clinvar/183691 ^@ PNPLA6, GLY1129ARG http://identifiers.org/clinvar/183692 ^@ NM_006702.4(PNPLA6):c.3382G>A (p.Gly1128Ser) http://identifiers.org/clinvar/183693 ^@ NM_006702.4(PNPLA6):c.3152G>A (p.Arg1051Gln) http://identifiers.org/clinvar/183694 ^@ PNPLA6, GLY776ARG http://identifiers.org/clinvar/184591 ^@ NM_003001.3(SDHC):c.15G>T (p.Leu5Phe) http://identifiers.org/clinvar/187333 ^@ NM_003001.3(SDHC):c.32G>T (p.Arg11Leu) http://identifiers.org/clinvar/185473 ^@ NM_003001.3(SDHC):c.78-1G>A http://identifiers.org/clinvar/185317 ^@ NM_003001.3(SDHC):c.165C>T (p.His55=) http://identifiers.org/clinvar/187084 ^@ NM_003001.3(SDHC):c.380A>G (p.His127Arg) http://identifiers.org/clinvar/183753 ^@ NM_003001.3(SDHC):c.397C>T (p.Arg133Ter) http://identifiers.org/clinvar/187709 ^@ NM_003001.3(SDHC):c.402C>T (p.His134=) http://identifiers.org/clinvar/184753 ^@ NM_003001.3(SDHC):c.460delG (p.Val154Leufs) http://identifiers.org/clinvar/184146 ^@ NM_003001.3(SDHC):c.490A>T (p.Met164Leu) http://identifiers.org/clinvar/183795 ^@ NM_003000.2(SDHB):c.758G>A (p.Cys253Tyr) http://identifiers.org/clinvar/186827 ^@ NM_003000.2(SDHB):c.724C>T (p.Arg242Cys) http://identifiers.org/clinvar/186390 ^@ NM_003000.2(SDHB):c.701T>A (p.Leu234Gln) http://identifiers.org/clinvar/184933 ^@ NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) http://identifiers.org/clinvar/185077 ^@ NM_003000.2(SDHB):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/183735 ^@ NM_003000.2(SDHB):c.649C>T (p.Arg217Cys) http://identifiers.org/clinvar/183747 ^@ NM_003000.2(SDHB):c.600G>T (p.Trp200Cys) http://identifiers.org/clinvar/186150 ^@ NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) http://identifiers.org/clinvar/187655 ^@ NM_003000.2(SDHB):c.554A>G (p.Glu185Gly) http://identifiers.org/clinvar/183925 ^@ NM_003000.2(SDHB):c.541-2A>G http://identifiers.org/clinvar/186513 ^@ NM_003000.2(SDHB):c.423C>T (p.Pro141=) http://identifiers.org/clinvar/187177 ^@ NM_003000.2(SDHB):c.412G>T (p.Asp138Tyr) http://identifiers.org/clinvar/183814 ^@ NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) http://identifiers.org/clinvar/187145 ^@ NM_003000.2(SDHB):c.374C>A (p.Ser125Ter) http://identifiers.org/clinvar/184177 ^@ NM_003000.2(SDHB):c.311delAinsGG (p.Asn104Argfs) http://identifiers.org/clinvar/183757 ^@ NM_003000.2(SDHB):c.286+1G>A http://identifiers.org/clinvar/185809 ^@ NM_003000.2(SDHB):c.268C>G (p.Arg90Gly) http://identifiers.org/clinvar/185456 ^@ NM_003000.2(SDHB):c.193C>T (p.Leu65Phe) http://identifiers.org/clinvar/185342 ^@ NM_003000.2(SDHB):c.166_170delCCTCA (p.Pro56Tyrfs) http://identifiers.org/clinvar/184148 ^@ NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) http://identifiers.org/clinvar/183793 ^@ NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) http://identifiers.org/clinvar/186518 ^@ NM_003000.2(SDHB):c.88delC (p.Gln30Argfs) http://identifiers.org/clinvar/187527 ^@ NM_003000.2(SDHB):c.26T>A (p.Leu9Ter) http://identifiers.org/clinvar/184192 ^@ NM_003000.2(SDHB):c.24C>T (p.Ser8=) http://identifiers.org/clinvar/183749 ^@ NM_003000.2(SDHB):c.21C>T (p.Leu7=) http://identifiers.org/clinvar/185472 ^@ NM_000143.3(FH):c.1434T>C (p.Asn478=) http://identifiers.org/clinvar/184590 ^@ NM_000143.3(FH):c.1428C>T (p.His476=) http://identifiers.org/clinvar/185496 ^@ NM_000143.3(FH):c.786_806del21 (p.Lys263_Ile269del) http://identifiers.org/clinvar/186733 ^@ NM_000143.3(FH):c.785T>G (p.Ile262Arg) http://identifiers.org/clinvar/184555 ^@ NM_000143.3(FH):c.700A>G (p.Thr234Ala) http://identifiers.org/clinvar/186384 ^@ NM_000143.3(FH):c.597_599delTGC (p.Ala200del) http://identifiers.org/clinvar/185946 ^@ NM_000143.3(FH):c.534C>T (p.Asn178=) http://identifiers.org/clinvar/186519 ^@ NM_000143.3(FH):c.437G>A (p.Gly146Glu) http://identifiers.org/clinvar/186284 ^@ NM_000143.3(FH):c.404A>G (p.His135Arg) http://identifiers.org/clinvar/187279 ^@ NM_000143.3(FH):c.358A>G (p.Ile120Val) http://identifiers.org/clinvar/185591 ^@ NM_000143.3(FH):c.305C>T (p.Ala102Val) http://identifiers.org/clinvar/184137 ^@ NM_000143.3(FH):c.217G>A (p.Val73Met) http://identifiers.org/clinvar/184518 ^@ NM_000143.3(FH):c.122C>T (p.Ala41Val) http://identifiers.org/clinvar/187176 ^@ NM_000143.3(FH):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/184570 ^@ NM_000143.3(FH):c.6C>T (p.Tyr2=) http://identifiers.org/clinvar/185177 ^@ NM_001128425.1(MUTYH):c.1622C>T (p.Ala541Val) http://identifiers.org/clinvar/184193 ^@ NM_001128425.1(MUTYH):c.1617T>C (p.Thr539=) http://identifiers.org/clinvar/184712 ^@ NM_001128425.1(MUTYH):c.1600C>A (p.Arg534=) http://identifiers.org/clinvar/186948 ^@ NM_001128425.1(MUTYH):c.1588G>C (p.Asp530His) http://identifiers.org/clinvar/185573 ^@ NM_001128425.1(MUTYH):c.1567C>T (p.Arg523Cys) http://identifiers.org/clinvar/187354 ^@ NM_001128425.1(MUTYH):c.1555C>T (p.Arg519Trp) http://identifiers.org/clinvar/184566 ^@ NM_001128425.1(MUTYH):c.1548G>A (p.Pro516=) http://identifiers.org/clinvar/183791 ^@ NM_001128425.1(MUTYH):c.1530G>A (p.Arg510=) http://identifiers.org/clinvar/187040 ^@ NM_001128425.1(MUTYH):c.1476+2C>T http://identifiers.org/clinvar/184281 ^@ NM_001128425.1(MUTYH):c.1464C>T (p.Thr488=) http://identifiers.org/clinvar/186129 ^@ NM_001128425.1(MUTYH):c.1435G>A (p.Glu479Lys) http://identifiers.org/clinvar/183787 ^@ NM_001128425.1(MUTYH):c.1431G>C (p.Thr477=) http://identifiers.org/clinvar/187172 ^@ NM_001128425.1(MUTYH):c.1421G>A (p.Arg474His) http://identifiers.org/clinvar/186417 ^@ NM_001128425.1(MUTYH):c.1414G>C (p.Gly472Arg) http://identifiers.org/clinvar/185966 ^@ NM_001128425.1(MUTYH):c.1414G>A (p.Gly472Ser) http://identifiers.org/clinvar/186410 ^@ NM_001128425.1(MUTYH):c.1409C>T (p.Pro470Leu) http://identifiers.org/clinvar/186723 ^@ NM_001128425.1(MUTYH):c.1405G>A (p.Val469Ile) http://identifiers.org/clinvar/187067 ^@ NM_001128425.1(MUTYH):c.1404C>T (p.Thr468=) http://identifiers.org/clinvar/187485 ^@ NM_001128425.1(MUTYH):c.1395A>C (p.Pro465=) http://identifiers.org/clinvar/186260 ^@ NM_001128425.1(MUTYH):c.1392C>T (p.Thr464=) http://identifiers.org/clinvar/185383 ^@ NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) http://identifiers.org/clinvar/185327 ^@ NM_001128425.1(MUTYH):c.1302G>A (p.Thr434=) http://identifiers.org/clinvar/187408 ^@ NM_001128425.1(MUTYH):c.1293C>G (p.Leu431=) http://identifiers.org/clinvar/186486 ^@ NM_001128425.1(MUTYH):c.1277G>C (p.Arg426Pro) http://identifiers.org/clinvar/185395 ^@ NM_001128425.1(MUTYH):c.1251C>T (p.Arg417=) http://identifiers.org/clinvar/185272 ^@ NM_001128425.1(MUTYH):c.1249C>T (p.Arg417Cys) http://identifiers.org/clinvar/184102 ^@ NM_001128425.1(MUTYH):c.1191G>T (p.Leu397=) http://identifiers.org/clinvar/185504 ^@ NM_001128425.1(MUTYH):c.1187-5C>A http://identifiers.org/clinvar/185529 ^@ NM_001128425.1(MUTYH):c.1146C>T (p.Ala382=) http://identifiers.org/clinvar/185770 ^@ NM_001128425.1(MUTYH):c.1101dupC (p.Arg368Glnfs) http://identifiers.org/clinvar/185683 ^@ NM_001128425.1(MUTYH):c.1079G>C (p.Arg360Thr) http://identifiers.org/clinvar/186251 ^@ NM_001128425.1(MUTYH):c.1038G>A (p.Ser346=) http://identifiers.org/clinvar/185982 ^@ NM_001128425.1(MUTYH):c.1037C>G (p.Ser346Trp) http://identifiers.org/clinvar/187041 ^@ NM_001128425.1(MUTYH):c.1035C>G (p.Pro345=) http://identifiers.org/clinvar/183823 ^@ NM_001128425.1(MUTYH):c.1000C>G (p.Pro334Ala) http://identifiers.org/clinvar/187309 ^@ NM_001128425.1(MUTYH):c.998-5C>G http://identifiers.org/clinvar/184935 ^@ NM_001128425.1(MUTYH):c.985G>T (p.Val329Leu) http://identifiers.org/clinvar/186405 ^@ NM_001128425.1(MUTYH):c.919C>T (p.Arg307Trp) http://identifiers.org/clinvar/183965 ^@ NM_001128425.1(MUTYH):c.886C>T (p.Leu296=) http://identifiers.org/clinvar/185242 ^@ NM_001128425.1(MUTYH):c.884C>T (p.Pro295Leu) http://identifiers.org/clinvar/186766 ^@ NM_001128425.1(MUTYH):c.867G>A (p.Val289=) http://identifiers.org/clinvar/186749 ^@ NM_001128425.1(MUTYH):c.819C>G (p.Ala273=) http://identifiers.org/clinvar/184896 ^@ NM_001128425.1(MUTYH):c.814C>T (p.Pro272Ser) http://identifiers.org/clinvar/186651 ^@ NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter) http://identifiers.org/clinvar/186750 ^@ NM_001128425.1(MUTYH):c.797C>G (p.Ala266Gly) http://identifiers.org/clinvar/187305 ^@ NM_001128425.1(MUTYH):c.758C>A (p.Pro253His) http://identifiers.org/clinvar/184657 ^@ NM_001128425.1(MUTYH):c.750T>C (p.Gly250=) http://identifiers.org/clinvar/187136 ^@ NM_001128425.1(MUTYH):c.747T>C (p.Ile249=) http://identifiers.org/clinvar/185462 ^@ NM_001128425.1(MUTYH):c.724G>T (p.Val242Leu) http://identifiers.org/clinvar/185274 ^@ NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp) http://identifiers.org/clinvar/187628 ^@ NM_001128425.1(MUTYH):c.715G>A (p.Val239Ile) http://identifiers.org/clinvar/184309 ^@ NM_001128425.1(MUTYH):c.714C>T (p.Asn238=) http://identifiers.org/clinvar/184547 ^@ NM_001128425.1(MUTYH):c.696C>T (p.Thr232=) http://identifiers.org/clinvar/186889 ^@ NM_001128425.1(MUTYH):c.686G>A (p.Gly229Asp) http://identifiers.org/clinvar/185072 ^@ NM_001128425.1(MUTYH):c.676A>G (p.Ile226Val) http://identifiers.org/clinvar/183989 ^@ NM_001128425.1(MUTYH):c.657A>C (p.Thr219=) http://identifiers.org/clinvar/184447 ^@ NM_001128425.1(MUTYH):c.649C>T (p.Arg217Cys) http://identifiers.org/clinvar/184952 ^@ NM_001128425.1(MUTYH):c.643G>A (p.Val215Met) http://identifiers.org/clinvar/185309 ^@ NM_001128425.1(MUTYH):c.613G>A (p.Ala205Thr) http://identifiers.org/clinvar/187351 ^@ NM_001128425.1(MUTYH):c.607C>G (p.Arg203Gly) http://identifiers.org/clinvar/183746 ^@ NM_001128425.1(MUTYH):c.577-5A>G http://identifiers.org/clinvar/186056 ^@ NM_001128425.1(MUTYH):c.571C>T (p.Arg191Trp) http://identifiers.org/clinvar/185772 ^@ NM_001128425.1(MUTYH):c.560A>G (p.Gln187Arg) http://identifiers.org/clinvar/187723 ^@ NM_001128425.1(MUTYH):c.551G>A (p.Arg184Gln) http://identifiers.org/clinvar/187318 ^@ NM_001128425.1(MUTYH):c.550C>T (p.Arg184Trp) http://identifiers.org/clinvar/185441 ^@ NM_001128425.1(MUTYH):c.545G>T (p.Arg182Leu) http://identifiers.org/clinvar/187280 ^@ NM_001128425.1(MUTYH):c.544C>T (p.Arg182Cys) http://identifiers.org/clinvar/184238 ^@ NM_001128425.1(MUTYH):c.525T>C (p.Ala175=) http://identifiers.org/clinvar/186535 ^@ NM_001128425.1(MUTYH):c.511A>G (p.Asn171Asp) http://identifiers.org/clinvar/186777 ^@ NM_001128425.1(MUTYH):c.508G>T (p.Val170Leu) http://identifiers.org/clinvar/186709 ^@ NM_001128425.1(MUTYH):c.505-2A>C http://identifiers.org/clinvar/185959 ^@ NM_001128425.1(MUTYH):c.493G>A (p.Ala165Thr) http://identifiers.org/clinvar/184965 ^@ NM_001128425.1(MUTYH):c.474A>T (p.Thr158=) http://identifiers.org/clinvar/185653 ^@ NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu) http://identifiers.org/clinvar/185648 ^@ NM_001128425.1(MUTYH):c.462+3G>A http://identifiers.org/clinvar/187674 ^@ NM_001128425.1(MUTYH):c.450C>T (p.Thr150=) http://identifiers.org/clinvar/185033 ^@ NM_001128425.1(MUTYH):c.449C>T (p.Thr150Ile) http://identifiers.org/clinvar/186207 ^@ NM_001128425.1(MUTYH):c.440A>G (p.Asn147Ser) http://identifiers.org/clinvar/184168 ^@ NM_001128425.1(MUTYH):c.409C>T (p.Leu137=) http://identifiers.org/clinvar/185604 ^@ NM_001128425.1(MUTYH):c.394G>A (p.Val132Ile) http://identifiers.org/clinvar/186819 ^@ NM_001128425.1(MUTYH):c.389-1G>A http://identifiers.org/clinvar/186778 ^@ NM_001128425.1(MUTYH):c.358delG (p.Glu120Argfs) http://identifiers.org/clinvar/183896 ^@ NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/184976 ^@ NM_001128425.1(MUTYH):c.309G>A (p.Trp103Ter) http://identifiers.org/clinvar/185512 ^@ NM_001128425.1(MUTYH):c.290G>A (p.Arg97Gln) http://identifiers.org/clinvar/184392 ^@ NM_001128425.1(MUTYH):c.258A>G (p.Leu86=) http://identifiers.org/clinvar/187750 ^@ NM_001128425.1(MUTYH):c.249A>T (p.Ser83=) http://identifiers.org/clinvar/187549 ^@ NM_001128425.1(MUTYH):c.222G>A (p.Glu74=) http://identifiers.org/clinvar/184132 ^@ NM_001128425.1(MUTYH):c.216G>A (p.Pro72=) http://identifiers.org/clinvar/186959 ^@ NM_001128425.1(MUTYH):c.206C>T (p.Ala69Val) http://identifiers.org/clinvar/186772 ^@ NM_001128425.1(MUTYH):c.192C>T (p.Ala64=) http://identifiers.org/clinvar/185629 ^@ NM_001128425.1(MUTYH):c.167G>A (p.Gly56Glu) http://identifiers.org/clinvar/185870 ^@ NM_001128425.1(MUTYH):c.155A>G (p.Asp52Gly) http://identifiers.org/clinvar/186592 ^@ NM_001128425.1(MUTYH):c.142C>A (p.Pro48Thr) http://identifiers.org/clinvar/183816 ^@ NM_001128425.1(MUTYH):c.129C>T (p.Asn43=) http://identifiers.org/clinvar/187371 ^@ NM_001128425.1(MUTYH):c.126C>A (p.Asn42Lys) http://identifiers.org/clinvar/184418 ^@ NM_001128425.1(MUTYH):c.120T>A (p.Ala40=) http://identifiers.org/clinvar/186378 ^@ NM_001128425.1(MUTYH):c.95G>T (p.Ser32Ile) http://identifiers.org/clinvar/186978 ^@ NM_001128425.1(MUTYH):c.78C>T (p.His26=) http://identifiers.org/clinvar/186528 ^@ NM_001128425.1(MUTYH):c.63C>T (p.Ala21=) http://identifiers.org/clinvar/185106 ^@ NM_001128425.1(MUTYH):c.13G>C (p.Val5Leu) http://identifiers.org/clinvar/186958 ^@ NM_000465.3(BARD1):c.2332T>C (p.Ter778Arg) http://identifiers.org/clinvar/184291 ^@ NM_000465.3(BARD1):c.2280G>A (p.Ser760=) http://identifiers.org/clinvar/185366 ^@ NM_000465.3(BARD1):c.2268G>A (p.Trp756Ter) http://identifiers.org/clinvar/187014 ^@ NM_000465.3(BARD1):c.2257G>A (p.Gly753Ser) http://identifiers.org/clinvar/184883 ^@ NM_000465.3(BARD1):c.2255A>G (p.Gln752Arg) http://identifiers.org/clinvar/183946 ^@ NM_000465.3(BARD1):c.2253G>T (p.Arg751=) http://identifiers.org/clinvar/186572 ^@ NM_000465.3(BARD1):c.2253G>A (p.Arg751=) http://identifiers.org/clinvar/184919 ^@ NM_000465.3(BARD1):c.2235T>C (p.Tyr745=) http://identifiers.org/clinvar/184266 ^@ NM_000465.3(BARD1):c.2202A>G (p.Thr734=) http://identifiers.org/clinvar/187551 ^@ NM_000465.3(BARD1):c.2191C>T (p.Arg731Cys) http://identifiers.org/clinvar/186822 ^@ NM_000465.3(BARD1):c.2172G>T (p.Ala724=) http://identifiers.org/clinvar/183847 ^@ NM_000465.3(BARD1):c.2169T>C (p.His723=) http://identifiers.org/clinvar/186249 ^@ NM_000465.3(BARD1):c.2163A>G (p.Ala721=) http://identifiers.org/clinvar/186747 ^@ NM_000465.3(BARD1):c.2158G>T (p.Val720Phe) http://identifiers.org/clinvar/187542 ^@ NM_000465.3(BARD1):c.2148_2149delCA (p.Ile717Glnfs) http://identifiers.org/clinvar/187132 ^@ NM_000465.3(BARD1):c.2139G>C (p.Val713=) http://identifiers.org/clinvar/186019 ^@ NM_000465.3(BARD1):c.2137G>A (p.Val713Met) http://identifiers.org/clinvar/187104 ^@ NM_000465.3(BARD1):c.2126C>T (p.Pro709Leu) http://identifiers.org/clinvar/184617 ^@ NM_000465.3(BARD1):c.2091A>T (p.Ala697=) http://identifiers.org/clinvar/186324 ^@ NM_000465.3(BARD1):c.2082C>T (p.Leu694=) http://identifiers.org/clinvar/187289 ^@ NM_000465.3(BARD1):c.2015T>C (p.Phe672Ser) http://identifiers.org/clinvar/184714 ^@ NM_000465.3(BARD1):c.2013G>A (p.Leu671=) http://identifiers.org/clinvar/185794 ^@ NM_000465.3(BARD1):c.1992A>C (p.Arg664Ser) http://identifiers.org/clinvar/187445 ^@ NM_000465.3(BARD1):c.1970delC (p.Pro657Hisfs) http://identifiers.org/clinvar/187488 ^@ NM_000465.3(BARD1):c.1963G>C (p.Glu655Gln) http://identifiers.org/clinvar/185508 ^@ NM_000465.3(BARD1):c.1940A>G (p.Gln647Arg) http://identifiers.org/clinvar/185522 ^@ NM_000465.3(BARD1):c.1920A>G (p.Leu640=) http://identifiers.org/clinvar/185614 ^@ NM_000465.3(BARD1):c.1904-5G>A http://identifiers.org/clinvar/187361 ^@ NM_000465.3(BARD1):c.1858T>C (p.Cys620Arg) http://identifiers.org/clinvar/184356 ^@ NM_000465.3(BARD1):c.1818T>C (p.His606=) http://identifiers.org/clinvar/185858 ^@ NM_000465.3(BARD1):c.1817A>C (p.His606Pro) http://identifiers.org/clinvar/185067 ^@ NM_000465.3(BARD1):c.1754T>C (p.Leu585Pro) http://identifiers.org/clinvar/185865 ^@ NM_000465.3(BARD1):c.1733C>T (p.Ser578Phe) http://identifiers.org/clinvar/186969 ^@ NM_000465.3(BARD1):c.1635A>G (p.Leu545=) http://identifiers.org/clinvar/187397 ^@ NM_000465.3(BARD1):c.1633C>T (p.Leu545=) http://identifiers.org/clinvar/184584 ^@ NM_000465.3(BARD1):c.1626A>G (p.Leu542=) http://identifiers.org/clinvar/186171 ^@ NM_000465.3(BARD1):c.1613G>A (p.Ser538Asn) http://identifiers.org/clinvar/185567 ^@ NM_000465.3(BARD1):c.1600A>C (p.Thr534Pro) http://identifiers.org/clinvar/185716 ^@ NM_000465.3(BARD1):c.1594G>A (p.Asp532Asn) http://identifiers.org/clinvar/184366 ^@ NM_000465.3(BARD1):c.1587G>A (p.Arg529=) http://identifiers.org/clinvar/187625 ^@ NM_000465.3(BARD1):c.1586G>A (p.Arg529Gln) http://identifiers.org/clinvar/185032 ^@ NM_000465.3(BARD1):c.1585C>T (p.Arg529Trp) http://identifiers.org/clinvar/186247 ^@ NM_000465.3(BARD1):c.1554C>T (p.Ala518=) http://identifiers.org/clinvar/184384 ^@ NM_000465.3(BARD1):c.1542T>G (p.Leu514=) http://identifiers.org/clinvar/184892 ^@ NM_000465.3(BARD1):c.1535T>C (p.Leu512Pro) http://identifiers.org/clinvar/183704 ^@ NM_000465.3(BARD1):c.1518T>C (p.His506=) http://identifiers.org/clinvar/184616 ^@ NM_000465.3(BARD1):c.1491A>G (p.Pro497=) http://identifiers.org/clinvar/184095 ^@ NM_000465.3(BARD1):c.1473G>A (p.Gly491=) http://identifiers.org/clinvar/184172 ^@ NM_000465.3(BARD1):c.1470C>T (p.Thr490=) http://identifiers.org/clinvar/186616 ^@ NM_000465.3(BARD1):c.1439T>C (p.Leu480Ser) http://identifiers.org/clinvar/186788 ^@ NM_000465.3(BARD1):c.1438T>C (p.Leu480=) http://identifiers.org/clinvar/187102 ^@ NM_000465.3(BARD1):c.1419C>T (p.His473=) http://identifiers.org/clinvar/186741 ^@ NM_000465.3(BARD1):c.1317C>T (p.Gly439=) http://identifiers.org/clinvar/187274 ^@ NM_000465.3(BARD1):c.1308T>A (p.Ser436=) http://identifiers.org/clinvar/187135 ^@ NM_000465.3(BARD1):c.1276C>G (p.His426Asp) http://identifiers.org/clinvar/187034 ^@ NM_000465.3(BARD1):c.1268A>G (p.Lys423Arg) http://identifiers.org/clinvar/187182 ^@ NM_000465.3(BARD1):c.1264_1267delGTGAinsATG (p.Val422Metfs) http://identifiers.org/clinvar/186783 ^@ NM_000465.3(BARD1):c.1259T>A (p.Met420Lys) http://identifiers.org/clinvar/186922 ^@ NM_000465.3(BARD1):c.1233C>T (p.Pro411=) http://identifiers.org/clinvar/187561 ^@ NM_000465.3(BARD1):c.1231C>G (p.Pro411Ala) http://identifiers.org/clinvar/185502 ^@ NM_000465.3(BARD1):c.1226C>G (p.Ser409Cys) http://identifiers.org/clinvar/186710 ^@ NM_000465.3(BARD1):c.1206A>G (p.Ser402=) http://identifiers.org/clinvar/184869 ^@ NM_000465.3(BARD1):c.1203T>C (p.Ser401=) http://identifiers.org/clinvar/187646 ^@ NM_000465.3(BARD1):c.1198delA (p.Ser400Valfs) http://identifiers.org/clinvar/186845 ^@ NM_000465.3(BARD1):c.1194A>G (p.Thr398=) http://identifiers.org/clinvar/186719 ^@ NM_000465.3(BARD1):c.1159T>C (p.Phe387Leu) http://identifiers.org/clinvar/186580 ^@ NM_000465.3(BARD1):c.1153G>A (p.Asp385Asn) http://identifiers.org/clinvar/184858 ^@ NM_000465.3(BARD1):c.1152C>T (p.Ser384=) http://identifiers.org/clinvar/185039 ^@ NM_000465.3(BARD1):c.1148T>A (p.Met383Lys) http://identifiers.org/clinvar/186863 ^@ NM_000465.3(BARD1):c.1136A>G (p.Lys379Arg) http://identifiers.org/clinvar/184930 ^@ NM_000465.3(BARD1):c.1084T>G (p.Cys362Gly) http://identifiers.org/clinvar/185677 ^@ NM_000465.3(BARD1):c.1071A>C (p.Ile357=) http://identifiers.org/clinvar/185916 ^@ NM_000465.3(BARD1):c.1061C>G (p.Ser354Ter) http://identifiers.org/clinvar/185563 ^@ NM_000465.3(BARD1):c.1059C>G (p.Pro353=) http://identifiers.org/clinvar/184394 ^@ NM_000465.3(BARD1):c.1059C>A (p.Pro353=) http://identifiers.org/clinvar/185570 ^@ NM_000465.3(BARD1):c.1046A>G (p.Lys349Arg) http://identifiers.org/clinvar/186669 ^@ NM_000465.3(BARD1):c.964C>T (p.Arg322Cys) http://identifiers.org/clinvar/187028 ^@ NM_000465.3(BARD1):c.944C>T (p.Pro315Leu) http://identifiers.org/clinvar/186835 ^@ NM_000465.3(BARD1):c.913A>C (p.Lys305Gln) http://identifiers.org/clinvar/184076 ^@ NM_000465.3(BARD1):c.882G>A (p.Arg294=) http://identifiers.org/clinvar/185015 ^@ NM_000465.3(BARD1):c.860_861delAG (p.Glu287Valfs) http://identifiers.org/clinvar/185922 ^@ NM_000465.3(BARD1):c.842C>T (p.Pro281Leu) http://identifiers.org/clinvar/184791 ^@ NM_000465.3(BARD1):c.747C>T (p.Ile249=) http://identifiers.org/clinvar/183870 ^@ NM_000465.3(BARD1):c.735A>G (p.Gln245=) http://identifiers.org/clinvar/186349 ^@ NM_000465.3(BARD1):c.702A>G (p.Glu234=) http://identifiers.org/clinvar/185150 ^@ NM_000465.3(BARD1):c.669A>G (p.Glu223=) http://identifiers.org/clinvar/186995 ^@ NM_000465.3(BARD1):c.662A>G (p.Glu221Gly) http://identifiers.org/clinvar/186869 ^@ NM_000465.3(BARD1):c.651A>G (p.Lys217=) http://identifiers.org/clinvar/184301 ^@ NM_000465.3(BARD1):c.644A>G (p.Asn215Ser) http://identifiers.org/clinvar/186956 ^@ NM_000465.3(BARD1):c.632T>C (p.Leu211Ser) http://identifiers.org/clinvar/186570 ^@ NM_000465.3(BARD1):c.601A>G (p.Arg201Gly) http://identifiers.org/clinvar/185352 ^@ NM_000465.3(BARD1):c.565G>A (p.Ala189Thr) http://identifiers.org/clinvar/186576 ^@ NM_000465.3(BARD1):c.539_540delAT (p.Tyr180Terfs) http://identifiers.org/clinvar/186447 ^@ NM_000465.3(BARD1):c.537A>T (p.Ser179=) http://identifiers.org/clinvar/183813 ^@ NM_000465.3(BARD1):c.531A>G (p.Gln177=) http://identifiers.org/clinvar/185846 ^@ NM_000465.3(BARD1):c.496C>T (p.Gln166Ter) http://identifiers.org/clinvar/186797 ^@ NM_000465.3(BARD1):c.476G>A (p.Ser159Asn) http://identifiers.org/clinvar/185139 ^@ NM_000465.3(BARD1):c.334C>T (p.Arg112Ter) http://identifiers.org/clinvar/185079 ^@ NM_000465.3(BARD1):c.298C>T (p.Gln100Ter) http://identifiers.org/clinvar/183769 ^@ NM_000465.3(BARD1):c.279A>G (p.Gln93=) http://identifiers.org/clinvar/184114 ^@ NM_000465.3(BARD1):c.267G>A (p.Pro89=) http://identifiers.org/clinvar/187030 ^@ NM_000465.3(BARD1):c.266C>T (p.Pro89Leu) http://identifiers.org/clinvar/186070 ^@ NM_000465.3(BARD1):c.252A>T (p.Pro84=) http://identifiers.org/clinvar/186195 ^@ NM_000465.3(BARD1):c.225A>T (p.Val75=) http://identifiers.org/clinvar/186245 ^@ NM_000465.3(BARD1):c.159T>C (p.Cys53=) http://identifiers.org/clinvar/185459 ^@ NM_000465.3(BARD1):c.152C>T (p.Ser51Leu) http://identifiers.org/clinvar/184583 ^@ NM_000465.3(BARD1):c.144G>A (p.Leu48=) http://identifiers.org/clinvar/185657 ^@ NM_000465.3(BARD1):c.121C>T (p.Leu41Phe) http://identifiers.org/clinvar/185557 ^@ NM_000465.3(BARD1):c.117C>T (p.Ala39=) http://identifiers.org/clinvar/187330 ^@ NM_000465.3(BARD1):c.104C>T (p.Ala35Val) http://identifiers.org/clinvar/185506 ^@ NM_000465.3(BARD1):c.73G>C (p.Ala25Pro) http://identifiers.org/clinvar/183698 ^@ NM_000465.3(BARD1):c.70C>T (p.Pro24Ser) http://identifiers.org/clinvar/186013 ^@ NM_000465.3(BARD1):c.49G>A (p.Gly17Arg) http://identifiers.org/clinvar/184322 ^@ NM_000465.3(BARD1):c.45C>T (p.Arg15=) http://identifiers.org/clinvar/187331 ^@ NM_000465.3(BARD1):c.35C>T (p.Pro12Leu) http://identifiers.org/clinvar/184470 ^@ NM_000465.3(BARD1):c.-4G>A http://identifiers.org/clinvar/183700 ^@ NM_002354.2(EPCAM):c.344T>C (p.Met115Thr) http://identifiers.org/clinvar/187758 ^@ NM_000251.2(MSH2):c.-68-248G>A http://identifiers.org/clinvar/187160 ^@ NM_000251.2(MSH2):c.-68-246G>C http://identifiers.org/clinvar/183734 ^@ NM_000251.2(MSH2):c.-68-242C>G http://identifiers.org/clinvar/186140 ^@ NM_000251.2(MSH2):c.-68-231G>C http://identifiers.org/clinvar/186034 ^@ NM_000251.2(MSH2):c.-68-218A>T http://identifiers.org/clinvar/184264 ^@ NM_000251.2(MSH2):c.-68-186G>C http://identifiers.org/clinvar/186931 ^@ NM_000251.2(MSH2):c.-68-172C>T http://identifiers.org/clinvar/186008 ^@ NM_000251.2(MSH2):c.-68-147T>C http://identifiers.org/clinvar/185533 ^@ NM_000251.2(MSH2):c.-68-145A>T http://identifiers.org/clinvar/185782 ^@ NM_000251.2(MSH2):c.-68-140A>G http://identifiers.org/clinvar/184789 ^@ NM_000251.2(MSH2):c.-68-118G>A http://identifiers.org/clinvar/184792 ^@ NM_000251.2(MSH2):c.-68-113G>A http://identifiers.org/clinvar/185605 ^@ NM_000251.2(MSH2):c.-68-108C>G http://identifiers.org/clinvar/185086 ^@ NM_000251.2(MSH2):c.-68-105A>T http://identifiers.org/clinvar/184476 ^@ NM_000251.2(MSH2):c.-68-80C>T http://identifiers.org/clinvar/186156 ^@ NM_000251.2(MSH2):c.-68-75A>T http://identifiers.org/clinvar/187432 ^@ NM_000251.2(MSH2):c.-68-73C>G http://identifiers.org/clinvar/186689 ^@ NM_000251.2(MSH2):c.-68-46G>A http://identifiers.org/clinvar/186353 ^@ NM_000251.2(MSH2):c.-68-38G>C http://identifiers.org/clinvar/184385 ^@ NM_000251.2(MSH2):c.-68-34T>C http://identifiers.org/clinvar/187297 ^@ NM_000251.2(MSH2):c.-68-30C>T http://identifiers.org/clinvar/186295 ^@ NM_000251.2(MSH2):c.-68-26C>T http://identifiers.org/clinvar/186182 ^@ NM_000251.2(MSH2):c.-68-15G>A http://identifiers.org/clinvar/185115 ^@ NM_000251.2(MSH2):c.-68-6A>G http://identifiers.org/clinvar/186298 ^@ NM_000251.2(MSH2):c.5C>A (p.Ala2Glu) http://identifiers.org/clinvar/186799 ^@ NM_000251.2(MSH2):c.30G>T (p.Gln10His) http://identifiers.org/clinvar/183934 ^@ NM_000251.2(MSH2):c.42G>A (p.Ala14=) http://identifiers.org/clinvar/186237 ^@ NM_000251.2(MSH2):c.51C>A (p.Val17=) http://identifiers.org/clinvar/185668 ^@ NM_000251.2(MSH2):c.73G>T (p.Gly25Cys) http://identifiers.org/clinvar/184810 ^@ NM_000251.2(MSH2):c.74G>A (p.Gly25Asp) http://identifiers.org/clinvar/185297 ^@ NM_000251.2(MSH2):c.80C>T (p.Pro27Leu) http://identifiers.org/clinvar/187558 ^@ NM_000251.2(MSH2):c.88C>A (p.Pro30Thr) http://identifiers.org/clinvar/185140 ^@ NM_000251.2(MSH2):c.89C>T (p.Pro30Leu) http://identifiers.org/clinvar/185640 ^@ NM_000251.2(MSH2):c.115C>A (p.Arg39=) http://identifiers.org/clinvar/186463 ^@ NM_000251.2(MSH2):c.123C>G (p.Asp41Glu) http://identifiers.org/clinvar/186149 ^@ NM_000251.2(MSH2):c.127T>C (p.Tyr43His) http://identifiers.org/clinvar/185641 ^@ NM_000251.2(MSH2):c.154C>T (p.Leu52=) http://identifiers.org/clinvar/186226 ^@ NM_000251.2(MSH2):c.159C>T (p.Ala53=) http://identifiers.org/clinvar/185536 ^@ NM_000251.2(MSH2):c.160G>T (p.Ala54Ser) http://identifiers.org/clinvar/184265 ^@ NM_000251.2(MSH2):c.186G>A (p.Gly62=) http://identifiers.org/clinvar/183770 ^@ NM_000251.2(MSH2):c.212-4delT http://identifiers.org/clinvar/185765 ^@ NM_000251.2(MSH2):c.234T>G (p.Val78=) http://identifiers.org/clinvar/185476 ^@ NM_000251.2(MSH2):c.237G>T (p.Val79=) http://identifiers.org/clinvar/185257 ^@ NM_000251.2(MSH2):c.251delA (p.Asn84Ilefs) http://identifiers.org/clinvar/185322 ^@ NM_000251.2(MSH2):c.350G>C (p.Trp117Ser) http://identifiers.org/clinvar/186849 ^@ NM_000251.2(MSH2):c.376G>A (p.Gly126Ser) http://identifiers.org/clinvar/187103 ^@ NM_000251.2(MSH2):c.403C>G (p.Leu135Val) http://identifiers.org/clinvar/186918 ^@ NM_000251.2(MSH2):c.437G>T (p.Gly146Val) http://identifiers.org/clinvar/187293 ^@ NM_000251.2(MSH2):c.438T>G (p.Gly146=) http://identifiers.org/clinvar/186685 ^@ NM_000251.2(MSH2):c.447T>C (p.Gly149=) http://identifiers.org/clinvar/186400 ^@ NM_000251.2(MSH2):c.476G>T (p.Arg159Ile) http://identifiers.org/clinvar/187520 ^@ NM_000251.2(MSH2):c.530A>T (p.Glu177Val) http://identifiers.org/clinvar/185514 ^@ NM_000251.2(MSH2):c.552C>T (p.Phe184=) http://identifiers.org/clinvar/183725 ^@ NM_000251.2(MSH2):c.594A>G (p.Glu198=) http://identifiers.org/clinvar/183729 ^@ NM_000251.2(MSH2):c.606C>G (p.Pro202=) http://identifiers.org/clinvar/186041 ^@ NM_000251.2(MSH2):c.624A>C (p.Gly208=) http://identifiers.org/clinvar/186641 ^@ NM_000251.2(MSH2):c.647T>C (p.Ile216Thr) http://identifiers.org/clinvar/184609 ^@ NM_000251.2(MSH2):c.747G>A (p.Lys249=) http://identifiers.org/clinvar/185397 ^@ NM_000251.2(MSH2):c.749G>A (p.Gly250Glu) http://identifiers.org/clinvar/185118 ^@ NM_000251.2(MSH2):c.781A>T (p.Met261Leu) http://identifiers.org/clinvar/187433 ^@ NM_000251.2(MSH2):c.820A>G (p.Ile274Val) http://identifiers.org/clinvar/187038 ^@ NM_000251.2(MSH2):c.830T>G (p.Leu277Ter) http://identifiers.org/clinvar/186431 ^@ NM_000251.2(MSH2):c.906G>A (p.Leu302=) http://identifiers.org/clinvar/185540 ^@ NM_000251.2(MSH2):c.912T>C (p.Ile304=) http://identifiers.org/clinvar/187273 ^@ NM_000251.2(MSH2):c.913dupG (p.Ala305Glyfs) http://identifiers.org/clinvar/187358 ^@ NM_000251.2(MSH2):c.964G>A (p.Gly322Ser) http://identifiers.org/clinvar/187194 ^@ NM_000251.2(MSH2):c.968C>T (p.Ser323Phe) http://identifiers.org/clinvar/184194 ^@ NM_000251.2(MSH2):c.1014A>C (p.Gly338=) http://identifiers.org/clinvar/184688 ^@ NM_000251.2(MSH2):c.1032G>C (p.Gln344His) http://identifiers.org/clinvar/187660 ^@ NM_000251.2(MSH2):c.1043A>G (p.Gln348Arg) http://identifiers.org/clinvar/186955 ^@ NM_000251.2(MSH2):c.1125_1126insAT (p.Leu376Ilefs) http://identifiers.org/clinvar/185256 ^@ NM_000251.2(MSH2):c.1131A>G (p.Gln377=) http://identifiers.org/clinvar/187607 ^@ NM_000251.2(MSH2):c.1166G>A (p.Arg389Gln) http://identifiers.org/clinvar/183915 ^@ NM_000251.2(MSH2):c.1248T>C (p.Asn416=) http://identifiers.org/clinvar/185599 ^@ NM_000251.2(MSH2):c.1253T>C (p.Ile418Thr) http://identifiers.org/clinvar/183858 ^@ NM_000251.2(MSH2):c.1314T>C (p.Thr438=) http://identifiers.org/clinvar/186652 ^@ NM_000251.2(MSH2):c.1315C>T (p.Pro439Ser) http://identifiers.org/clinvar/186014 ^@ NM_000251.2(MSH2):c.1341C>T (p.Phe447=) http://identifiers.org/clinvar/183761 ^@ NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter) http://identifiers.org/clinvar/186760 ^@ NM_000251.2(MSH2):c.1374A>G (p.Leu458=) http://identifiers.org/clinvar/185353 ^@ NM_000251.2(MSH2):c.1386+3A>G http://identifiers.org/clinvar/183938 ^@ NM_000251.2(MSH2):c.1387-4G>C http://identifiers.org/clinvar/186853 ^@ NM_000251.2(MSH2):c.1413A>C (p.Lys471Asn) http://identifiers.org/clinvar/186554 ^@ NM_000251.2(MSH2):c.1442T>G (p.Leu481Ter) http://identifiers.org/clinvar/185360 ^@ NM_000251.2(MSH2):c.1484C>T (p.Thr495Ile) http://identifiers.org/clinvar/187376 ^@ NM_000251.2(MSH2):c.1485A>G (p.Thr495=) http://identifiers.org/clinvar/186123 ^@ NM_000251.2(MSH2):c.1523G>C (p.Gly508Ala) http://identifiers.org/clinvar/186484 ^@ NM_000251.2(MSH2):c.1597C>G (p.Leu533Val) http://identifiers.org/clinvar/183882 ^@ NM_000251.2(MSH2):c.1647T>C (p.Val549=) http://identifiers.org/clinvar/187594 ^@ NM_000251.2(MSH2):c.1686G>C (p.Glu562Asp) http://identifiers.org/clinvar/186874 ^@ NM_000251.2(MSH2):c.1692C>G (p.Thr564=) http://identifiers.org/clinvar/183783 ^@ NM_000251.2(MSH2):c.1706A>G (p.Glu569Gly) http://identifiers.org/clinvar/184475 ^@ NM_000251.2(MSH2):c.1746C>T (p.Val582=) http://identifiers.org/clinvar/186297 ^@ NM_000251.2(MSH2):c.1760-3C>T http://identifiers.org/clinvar/187608 ^@ NM_000251.2(MSH2):c.1764T>C (p.Tyr588=) http://identifiers.org/clinvar/187502 ^@ NM_000251.2(MSH2):c.1770A>G (p.Glu590=) http://identifiers.org/clinvar/187650 ^@ NM_000251.2(MSH2):c.1773A>G (p.Pro591=) http://identifiers.org/clinvar/184645 ^@ NM_000251.2(MSH2):c.1784T>G (p.Leu595Arg) http://identifiers.org/clinvar/183758 ^@ NM_000251.2(MSH2):c.1790A>C (p.Asp597Ala) http://identifiers.org/clinvar/186224 ^@ NM_000251.2(MSH2):c.1793delT (p.Val598Glyfs) http://identifiers.org/clinvar/187400 ^@ NM_000251.2(MSH2):c.1803dupG (p.Leu602Alafs) http://identifiers.org/clinvar/184308 ^@ NM_000251.2(MSH2):c.1828C>T (p.His610Tyr) http://identifiers.org/clinvar/187451 ^@ NM_000251.2(MSH2):c.1854A>G (p.Pro618=) http://identifiers.org/clinvar/186655 ^@ NM_000251.2(MSH2):c.1863A>T (p.Arg621=) http://identifiers.org/clinvar/186899 ^@ NM_000251.2(MSH2):c.1864C>G (p.Pro622Ala) http://identifiers.org/clinvar/186060 ^@ NM_000251.2(MSH2):c.1884A>T (p.Gly628=) http://identifiers.org/clinvar/183977 ^@ NM_000251.2(MSH2):c.1897A>G (p.Ile633Val) http://identifiers.org/clinvar/186196 ^@ NM_000251.2(MSH2):c.1939G>C (p.Glu647Gln) http://identifiers.org/clinvar/184961 ^@ NM_000251.2(MSH2):c.1945G>A (p.Ala649Thr) http://identifiers.org/clinvar/183719 ^@ NM_000251.2(MSH2):c.2006-4G>A http://identifiers.org/clinvar/183743 ^@ NM_000251.2(MSH2):c.2010C>T (p.Pro670=) http://identifiers.org/clinvar/186664 ^@ NM_000251.2(MSH2):c.2015T>G (p.Met672Arg) http://identifiers.org/clinvar/186656 ^@ NM_000251.2(MSH2):c.2022T>C (p.Gly674=) http://identifiers.org/clinvar/187690 ^@ NM_000251.2(MSH2):c.2031A>G (p.Thr677=) http://identifiers.org/clinvar/186199 ^@ NM_000251.2(MSH2):c.2038C>G (p.Arg680Gly) http://identifiers.org/clinvar/184207 ^@ NM_000251.2(MSH2):c.2043A>G (p.Gln681=) http://identifiers.org/clinvar/185944 ^@ NM_000251.2(MSH2):c.2061C>G (p.Leu687=) http://identifiers.org/clinvar/184881 ^@ NM_000251.2(MSH2):c.2082T>C (p.Phe694=) http://identifiers.org/clinvar/187518 ^@ NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) http://identifiers.org/clinvar/183845 ^@ NM_000251.2(MSH2):c.2106G>A (p.Val702=) http://identifiers.org/clinvar/183956 ^@ NM_000251.2(MSH2):c.2271C>T (p.Tyr757=) http://identifiers.org/clinvar/186404 ^@ NM_000251.2(MSH2):c.2295T>A (p.Ala765=) http://identifiers.org/clinvar/186151 ^@ NM_000251.2(MSH2):c.2296A>G (p.Ile766Val) http://identifiers.org/clinvar/185569 ^@ NM_000251.2(MSH2):c.2354A>C (p.His785Pro) http://identifiers.org/clinvar/185735 ^@ NM_000251.2(MSH2):c.2367C>T (p.Ala789=) http://identifiers.org/clinvar/186636 ^@ NM_000251.2(MSH2):c.2392A>G (p.Asn798Asp) http://identifiers.org/clinvar/184388 ^@ NM_000251.2(MSH2):c.2397T>C (p.Asn799=) http://identifiers.org/clinvar/185672 ^@ NM_000251.2(MSH2):c.2408C>T (p.Thr803Ile) http://identifiers.org/clinvar/186694 ^@ NM_000251.2(MSH2):c.2528G>A (p.Cys843Tyr) http://identifiers.org/clinvar/187553 ^@ NM_000251.2(MSH2):c.2566T>C (p.Tyr856His) http://identifiers.org/clinvar/187208 ^@ NM_000251.2(MSH2):c.2684C>G (p.Pro895Arg) http://identifiers.org/clinvar/186607 ^@ NM_000251.2(MSH2):c.2691T>C (p.Thr897=) http://identifiers.org/clinvar/186495 ^@ NM_000251.2(MSH2):c.2700A>G (p.Ser900=) http://identifiers.org/clinvar/187449 ^@ NM_000251.2(MSH2):c.2717T>G (p.Ile906Arg) http://identifiers.org/clinvar/185819 ^@ NM_000251.2(MSH2):c.2789dupT (p.Val932Serfs) http://identifiers.org/clinvar/187255 ^@ NM_000251.2(MSH2):c.2800A>T (p.Thr934Ser) http://identifiers.org/clinvar/183723 ^@ NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) http://identifiers.org/clinvar/185016 ^@ NM_000179.2(MSH6):c.30C>G (p.Phe10Leu) http://identifiers.org/clinvar/185320 ^@ NM_000179.2(MSH6):c.30C>T (p.Phe10=) http://identifiers.org/clinvar/186416 ^@ NM_000179.2(MSH6):c.33C>G (p.Phe11Leu) http://identifiers.org/clinvar/184992 ^@ NM_000179.2(MSH6):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/184777 ^@ NM_000179.2(MSH6):c.71C>T (p.Ser24Leu) http://identifiers.org/clinvar/185732 ^@ NM_000179.2(MSH6):c.81C>G (p.Ala27=) http://identifiers.org/clinvar/183756 ^@ NM_000179.2(MSH6):c.102C>A (p.Ala34=) http://identifiers.org/clinvar/186859 ^@ NM_000179.2(MSH6):c.108T>C (p.Ala36=) http://identifiers.org/clinvar/184795 ^@ NM_000179.2(MSH6):c.114C>T (p.Pro38=) http://identifiers.org/clinvar/184181 ^@ NM_000179.2(MSH6):c.147C>T (p.Ala49=) http://identifiers.org/clinvar/187071 ^@ NM_000179.2(MSH6):c.148T>C (p.Trp50Arg) http://identifiers.org/clinvar/184901 ^@ NM_000179.2(MSH6):c.166_171dupGGGCCC (p.Pro57_Arg58insGlyPro) http://identifiers.org/clinvar/186734 ^@ NM_000179.2(MSH6):c.192G>T (p.Ala64=) http://identifiers.org/clinvar/184742 ^@ NM_000179.2(MSH6):c.207G>A (p.Ala69=) http://identifiers.org/clinvar/185075 ^@ NM_000179.2(MSH6):c.214C>G (p.Leu72Val) http://identifiers.org/clinvar/185622 ^@ NM_000179.2(MSH6):c.225G>A (p.Gly75=) http://identifiers.org/clinvar/184546 ^@ NM_000179.2(MSH6):c.246T>C (p.Pro82=) http://identifiers.org/clinvar/184666 ^@ NM_000179.2(MSH6):c.255C>G (p.Pro85=) http://identifiers.org/clinvar/185712 ^@ NM_000179.2(MSH6):c.283T>G (p.Leu95Val) http://identifiers.org/clinvar/186204 ^@ NM_000179.2(MSH6):c.333C>T (p.Tyr111=) http://identifiers.org/clinvar/187109 ^@ NM_000179.2(MSH6):c.370G>C (p.Gly124Arg) http://identifiers.org/clinvar/186078 ^@ NM_000179.2(MSH6):c.393A>C (p.Val131=) http://identifiers.org/clinvar/185466 ^@ NM_000179.2(MSH6):c.397_410delTTTTTTGATGACAG (p.Phe133Profs) http://identifiers.org/clinvar/184099 ^@ NM_000179.2(MSH6):c.423C>G (p.Gly141=) http://identifiers.org/clinvar/186097 ^@ NM_000179.2(MSH6):c.471G>A (p.Lys157=) http://identifiers.org/clinvar/187329 ^@ NM_000179.2(MSH6):c.480G>T (p.Gln160His) http://identifiers.org/clinvar/185008 ^@ NM_000179.2(MSH6):c.503C>G (p.Ala168Gly) http://identifiers.org/clinvar/183854 ^@ NM_000179.2(MSH6):c.513A>G (p.Glu171=) http://identifiers.org/clinvar/187570 ^@ NM_000179.2(MSH6):c.526A>G (p.Met176Val) http://identifiers.org/clinvar/187367 ^@ NM_000179.2(MSH6):c.552T>C (p.Asn184=) http://identifiers.org/clinvar/187264 ^@ NM_000179.2(MSH6):c.565A>T (p.Lys189Ter) http://identifiers.org/clinvar/183724 ^@ NM_000179.2(MSH6):c.578delT (p.Leu193Trpfs) http://identifiers.org/clinvar/184608 ^@ NM_000179.2(MSH6):c.609A>G (p.Glu203=) http://identifiers.org/clinvar/184819 ^@ NM_000179.2(MSH6):c.659A>C (p.Glu220Ala) http://identifiers.org/clinvar/186380 ^@ NM_000179.2(MSH6):c.679A>G (p.Ser227Gly) http://identifiers.org/clinvar/184990 ^@ NM_000179.2(MSH6):c.743G>A (p.Arg248Gln) http://identifiers.org/clinvar/185923 ^@ NM_000179.2(MSH6):c.772A>G (p.Ile258Val) http://identifiers.org/clinvar/187020 ^@ NM_000179.2(MSH6):c.813_815delGGA (p.Glu272del) http://identifiers.org/clinvar/184864 ^@ NM_000179.2(MSH6):c.818G>A (p.Gly273Glu) http://identifiers.org/clinvar/187266 ^@ NM_000179.2(MSH6):c.884A>T (p.Lys295Ile) http://identifiers.org/clinvar/186227 ^@ NM_000179.2(MSH6):c.893G>A (p.Arg298Gln) http://identifiers.org/clinvar/187031 ^@ NM_000179.2(MSH6):c.899G>T (p.Arg300Leu) http://identifiers.org/clinvar/184781 ^@ NM_000179.2(MSH6):c.909G>T (p.Met303Ile) http://identifiers.org/clinvar/186984 ^@ NM_000179.2(MSH6):c.960C>T (p.Pro320=) http://identifiers.org/clinvar/184803 ^@ NM_000179.2(MSH6):c.980C>G (p.Thr327Ser) http://identifiers.org/clinvar/186304 ^@ NM_000179.2(MSH6):c.989C>A (p.Ser330Ter) http://identifiers.org/clinvar/187718 ^@ NM_000179.2(MSH6):c.1037C>T (p.Ser346Phe) http://identifiers.org/clinvar/184171 ^@ NM_000179.2(MSH6):c.1053C>T (p.His351=) http://identifiers.org/clinvar/185642 ^@ NM_000179.2(MSH6):c.1059_1063delTGGAG (p.Ser353Argfs) http://identifiers.org/clinvar/183789 ^@ NM_000179.2(MSH6):c.1068T>C (p.Gly356=) http://identifiers.org/clinvar/186763 ^@ NM_000179.2(MSH6):c.1113A>G (p.Glu371=) http://identifiers.org/clinvar/187697 ^@ NM_000179.2(MSH6):c.1122G>A (p.Lys374=) http://identifiers.org/clinvar/185986 ^@ NM_000179.2(MSH6):c.1129A>C (p.Lys377Gln) http://identifiers.org/clinvar/184471 ^@ NM_000179.2(MSH6):c.1147A>C (p.Arg383=) http://identifiers.org/clinvar/184833 ^@ NM_000179.2(MSH6):c.1153A>C (p.Arg385=) http://identifiers.org/clinvar/183954 ^@ NM_000179.2(MSH6):c.1163A>C (p.His388Pro) http://identifiers.org/clinvar/186238 ^@ NM_000179.2(MSH6):c.1170T>C (p.Asp390=) http://identifiers.org/clinvar/186009 ^@ NM_000179.2(MSH6):c.1188C>G (p.Leu396=) http://identifiers.org/clinvar/184081 ^@ NM_000179.2(MSH6):c.1191T>C (p.Tyr397=) http://identifiers.org/clinvar/186409 ^@ NM_000179.2(MSH6):c.1194G>A (p.Val398=) http://identifiers.org/clinvar/187573 ^@ NM_000179.2(MSH6):c.1224T>G (p.Pro408=) http://identifiers.org/clinvar/183736 ^@ NM_000179.2(MSH6):c.1238G>A (p.Trp413Ter) http://identifiers.org/clinvar/186190 ^@ NM_000179.2(MSH6):c.1245G>A (p.Gln415=) http://identifiers.org/clinvar/186660 ^@ NM_000179.2(MSH6):c.1275C>A (p.Ile425=) http://identifiers.org/clinvar/183760 ^@ NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) http://identifiers.org/clinvar/187530 ^@ NM_000179.2(MSH6):c.1305G>T (p.Leu435=) http://identifiers.org/clinvar/185673 ^@ NM_000179.2(MSH6):c.1316A>G (p.Asp439Gly) http://identifiers.org/clinvar/184880 ^@ NM_000179.2(MSH6):c.1347G>A (p.Leu449=) http://identifiers.org/clinvar/186337 ^@ NM_000179.2(MSH6):c.1386T>C (p.Pro462=) http://identifiers.org/clinvar/184393 ^@ NM_000179.2(MSH6):c.1444C>A (p.Arg482=) http://identifiers.org/clinvar/185382 ^@ NM_000179.2(MSH6):c.1446A>G (p.Arg482=) http://identifiers.org/clinvar/184915 ^@ NM_000179.2(MSH6):c.1452A>G (p.Glu484=) http://identifiers.org/clinvar/184850 ^@ NM_000179.2(MSH6):c.1482A>G (p.Ala494=) http://identifiers.org/clinvar/185071 ^@ NM_000179.2(MSH6):c.1509C>T (p.Ser503=) http://identifiers.org/clinvar/187118 ^@ NM_000179.2(MSH6):c.1528A>G (p.Arg510Gly) http://identifiers.org/clinvar/184451 ^@ NM_000179.2(MSH6):c.1554C>T (p.Thr518=) http://identifiers.org/clinvar/187702 ^@ NM_000179.2(MSH6):c.1560T>C (p.Gly520=) http://identifiers.org/clinvar/187083 ^@ NM_000179.2(MSH6):c.1586G>A (p.Gly529Asp) http://identifiers.org/clinvar/185151 ^@ NM_000179.2(MSH6):c.1586G>T (p.Gly529Val) http://identifiers.org/clinvar/187493 ^@ NM_000179.2(MSH6):c.1611G>A (p.Lys537=) http://identifiers.org/clinvar/185467 ^@ NM_000179.2(MSH6):c.1732C>T (p.His578Tyr) http://identifiers.org/clinvar/186142 ^@ NM_000179.2(MSH6):c.1763A>G (p.His588Arg) http://identifiers.org/clinvar/185350 ^@ NM_000179.2(MSH6):c.1772delC (p.Pro591Glnfs) http://identifiers.org/clinvar/183715 ^@ NM_000179.2(MSH6):c.1776A>T (p.Val592=) http://identifiers.org/clinvar/183993 ^@ NM_000179.2(MSH6):c.1794A>G (p.Lys598=) http://identifiers.org/clinvar/184765 ^@ NM_000179.2(MSH6):c.1820C>G (p.Thr607Arg) http://identifiers.org/clinvar/184240 ^@ NM_000179.2(MSH6):c.1827A>G (p.Leu609=) http://identifiers.org/clinvar/186038 ^@ NM_000179.2(MSH6):c.1844G>T (p.Cys615Phe) http://identifiers.org/clinvar/186521 ^@ NM_000179.2(MSH6):c.1875C>A (p.Ser625=) http://identifiers.org/clinvar/185463 ^@ NM_000179.2(MSH6):c.1915G>A (p.Glu639Lys) http://identifiers.org/clinvar/183801 ^@ NM_000179.2(MSH6):c.1917G>A (p.Glu639=) http://identifiers.org/clinvar/187139 ^@ NM_000179.2(MSH6):c.1917G>C (p.Glu639Asp) http://identifiers.org/clinvar/187749 ^@ NM_000179.2(MSH6):c.1921_1923delGAA (p.Glu641del) http://identifiers.org/clinvar/187096 ^@ NM_000179.2(MSH6):c.1963T>A (p.Leu655Ile) http://identifiers.org/clinvar/185132 ^@ NM_000179.2(MSH6):c.1994A>G (p.Glu665Gly) http://identifiers.org/clinvar/183869 ^@ NM_000179.2(MSH6):c.2025G>A (p.Glu675=) http://identifiers.org/clinvar/186833 ^@ NM_000179.2(MSH6):c.2035T>C (p.Leu679=) http://identifiers.org/clinvar/186541 ^@ NM_000179.2(MSH6):c.2040C>T (p.Ala680=) http://identifiers.org/clinvar/187516 ^@ NM_000179.2(MSH6):c.2079dupA (p.Cys694Metfs) http://identifiers.org/clinvar/184669 ^@ NM_000179.2(MSH6):c.2142T>C (p.Ser714=) http://identifiers.org/clinvar/183913 ^@ NM_000179.2(MSH6):c.2154C>T (p.Ser718=) http://identifiers.org/clinvar/187147 ^@ NM_000179.2(MSH6):c.2168G>C (p.Gly723Ala) http://identifiers.org/clinvar/183739 ^@ NM_000179.2(MSH6):c.2230dupG (p.Glu744Glyfs) http://identifiers.org/clinvar/185379 ^@ NM_000179.2(MSH6):c.2256T>C (p.Gly752=) http://identifiers.org/clinvar/183899 ^@ NM_000179.2(MSH6):c.2271C>T (p.Thr757=) http://identifiers.org/clinvar/184444 ^@ NM_000179.2(MSH6):c.2291C>A (p.Thr764Asn) http://identifiers.org/clinvar/184701 ^@ NM_000179.2(MSH6):c.2314C>A (p.Arg772=) http://identifiers.org/clinvar/185830 ^@ NM_000179.2(MSH6):c.2371C>T (p.Arg791Cys) http://identifiers.org/clinvar/183917 ^@ NM_000179.2(MSH6):c.2418C>T (p.Ser806=) http://identifiers.org/clinvar/187283 ^@ NM_000179.2(MSH6):c.2452C>G (p.Leu818Val) http://identifiers.org/clinvar/183929 ^@ NM_000179.2(MSH6):c.2508C>T (p.Asn836=) http://identifiers.org/clinvar/186127 ^@ NM_000179.2(MSH6):c.2520C>T (p.Ser840=) http://identifiers.org/clinvar/186376 ^@ NM_000179.2(MSH6):c.2526T>G (p.Ala842=) http://identifiers.org/clinvar/185020 ^@ NM_000179.2(MSH6):c.2532G>A (p.Met844Ile) http://identifiers.org/clinvar/186657 ^@ NM_000179.2(MSH6):c.2550C>A (p.Tyr850Ter) http://identifiers.org/clinvar/184831 ^@ NM_000179.2(MSH6):c.2579C>T (p.Ser860Phe) http://identifiers.org/clinvar/185159 ^@ NM_000179.2(MSH6):c.2624T>C (p.Met875Thr) http://identifiers.org/clinvar/183741 ^@ NM_000179.2(MSH6):c.2658C>T (p.Ile886=) http://identifiers.org/clinvar/186012 ^@ NM_000179.2(MSH6):c.2668G>C (p.Val890Leu) http://identifiers.org/clinvar/183829 ^@ NM_000179.2(MSH6):c.2673C>T (p.Ile891=) http://identifiers.org/clinvar/186675 ^@ NM_000179.2(MSH6):c.2677C>T (p.Leu893=) http://identifiers.org/clinvar/186538 ^@ NM_000179.2(MSH6):c.2701C>T (p.Arg901Cys) http://identifiers.org/clinvar/187677 ^@ NM_000179.2(MSH6):c.2795G>A (p.Gly932Asp) http://identifiers.org/clinvar/186654 ^@ NM_000179.2(MSH6):c.2808T>G (p.Asp936Glu) http://identifiers.org/clinvar/186374 ^@ NM_000179.2(MSH6):c.2875C>T (p.Arg959Cys) http://identifiers.org/clinvar/186181 ^@ NM_000179.2(MSH6):c.2876G>A (p.Arg959His) http://identifiers.org/clinvar/184156 ^@ NM_000179.2(MSH6):c.2877C>T (p.Arg959=) http://identifiers.org/clinvar/184311 ^@ NM_000179.2(MSH6):c.2904C>G (p.Val968=) http://identifiers.org/clinvar/187691 ^@ NM_000179.2(MSH6):c.2906_2907delAT (p.Tyr969Leufs) http://identifiers.org/clinvar/184273 ^@ NM_000179.2(MSH6):c.2946T>G (p.Pro982=) http://identifiers.org/clinvar/186492 ^@ NM_000179.2(MSH6):c.2950A>C (p.Asn984His) http://identifiers.org/clinvar/186981 ^@ NM_000179.2(MSH6):c.2959A>G (p.Thr987Ala) http://identifiers.org/clinvar/185070 ^@ NM_000179.2(MSH6):c.2964C>T (p.Arg988=) http://identifiers.org/clinvar/187717 ^@ NM_000179.2(MSH6):c.2971C>G (p.Pro991Ala) http://identifiers.org/clinvar/183936 ^@ NM_000179.2(MSH6):c.2982C>T (p.Tyr994=) http://identifiers.org/clinvar/184986 ^@ NM_000179.2(MSH6):c.3084A>T (p.Ser1028=) http://identifiers.org/clinvar/186021 ^@ NM_000179.2(MSH6):c.3113A>G (p.Tyr1038Cys) http://identifiers.org/clinvar/184018 ^@ NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) http://identifiers.org/clinvar/186757 ^@ NM_000179.2(MSH6):c.3183G>T (p.Leu1061=) http://identifiers.org/clinvar/186046 ^@ NM_000179.2(MSH6):c.3198T>C (p.Tyr1066=) http://identifiers.org/clinvar/187384 ^@ NM_000179.2(MSH6):c.3215G>T (p.Gly1072Val) http://identifiers.org/clinvar/186361 ^@ NM_000179.2(MSH6):c.3227G>A (p.Arg1076His) http://identifiers.org/clinvar/187394 ^@ NM_000179.2(MSH6):c.3228C>T (p.Arg1076=) http://identifiers.org/clinvar/184530 ^@ NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) http://identifiers.org/clinvar/186212 ^@ NM_000179.2(MSH6):c.3246G>C (p.Pro1082=) http://identifiers.org/clinvar/187568 ^@ NM_000179.2(MSH6):c.3255C>G (p.Thr1085=) http://identifiers.org/clinvar/186739 ^@ NM_000179.2(MSH6):c.3260C>T (p.Pro1087Leu) http://identifiers.org/clinvar/183834 ^@ NM_000179.2(MSH6):c.3261C>G (p.Pro1087=) http://identifiers.org/clinvar/186503 ^@ NM_000179.2(MSH6):c.3261C>T (p.Pro1087=) http://identifiers.org/clinvar/185357 ^@ NM_000179.2(MSH6):c.3265T>C (p.Leu1089=) http://identifiers.org/clinvar/187409 ^@ NM_000179.2(MSH6):c.3267_3268insC (p.Glu1090Argfs) http://identifiers.org/clinvar/183923 ^@ NM_000179.2(MSH6):c.3282A>T (p.Ser1094=) http://identifiers.org/clinvar/183932 ^@ NM_000179.2(MSH6):c.3285C>T (p.Arg1095=) http://identifiers.org/clinvar/185358 ^@ NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) http://identifiers.org/clinvar/184673 ^@ NM_000179.2(MSH6):c.3300G>C (p.Thr1100=) http://identifiers.org/clinvar/187114 ^@ NM_000179.2(MSH6):c.3328C>T (p.Pro1110Ser) http://identifiers.org/clinvar/185269 ^@ NM_000179.2(MSH6):c.3339T>G (p.Ile1113Met) http://identifiers.org/clinvar/186280 ^@ NM_000179.2(MSH6):c.3349T>C (p.Cys1117Arg) http://identifiers.org/clinvar/186300 ^@ NM_000179.2(MSH6):c.3375C>G (p.Gly1125=) http://identifiers.org/clinvar/185818 ^@ NM_000179.2(MSH6):c.3381C>G (p.Ala1127=) http://identifiers.org/clinvar/183717 ^@ NM_000179.2(MSH6):c.3399T>C (p.Thr1133=) http://identifiers.org/clinvar/183742 ^@ NM_000179.2(MSH6):c.3416dupG (p.Lys1140Glnfs) http://identifiers.org/clinvar/186296 ^@ NM_000179.2(MSH6):c.3461C>A (p.Ala1154Asp) http://identifiers.org/clinvar/185611 ^@ NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) http://identifiers.org/clinvar/184794 ^@ NM_000179.2(MSH6):c.3478G>T (p.Val1160Phe) http://identifiers.org/clinvar/184296 ^@ NM_000179.2(MSH6):c.3480C>A (p.Val1160=) http://identifiers.org/clinvar/187746 ^@ NM_000179.2(MSH6):c.3526A>C (p.Arg1176=) http://identifiers.org/clinvar/185718 ^@ NM_000179.2(MSH6):c.3537C>G (p.Ala1179=) http://identifiers.org/clinvar/183970 ^@ NM_000179.2(MSH6):c.3540A>C (p.Ser1180=) http://identifiers.org/clinvar/186209 ^@ NM_000179.2(MSH6):c.3553T>G (p.Ser1185Ala) http://identifiers.org/clinvar/186929 ^@ NM_000179.2(MSH6):c.3562_3565dupAGTA (p.Thr1189Lysfs) http://identifiers.org/clinvar/185436 ^@ NM_000179.2(MSH6):c.3618A>G (p.Ala1206=) http://identifiers.org/clinvar/187154 ^@ NM_000179.2(MSH6):c.3619C>G (p.His1207Asp) http://identifiers.org/clinvar/186359 ^@ NM_000179.2(MSH6):c.3695T>A (p.Val1232Asp) http://identifiers.org/clinvar/184788 ^@ NM_000179.2(MSH6):c.3711G>A (p.Glu1237=) http://identifiers.org/clinvar/185296 ^@ NM_000179.2(MSH6):c.3713C>G (p.Thr1238Ser) http://identifiers.org/clinvar/187550 ^@ NM_000179.2(MSH6):c.3716T>C (p.Ile1239Thr) http://identifiers.org/clinvar/186837 ^@ NM_000179.2(MSH6):c.3720A>G (p.Lys1240=) http://identifiers.org/clinvar/183754 ^@ NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) http://identifiers.org/clinvar/183794 ^@ NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249Leufs) http://identifiers.org/clinvar/185667 ^@ NM_000179.2(MSH6):c.3782C>T (p.Ala1261Val) http://identifiers.org/clinvar/186104 ^@ NM_000179.2(MSH6):c.3790C>T (p.Leu1264=) http://identifiers.org/clinvar/185280 ^@ NM_000179.2(MSH6):c.3792A>G (p.Leu1264=) http://identifiers.org/clinvar/185429 ^@ NM_000179.2(MSH6):c.3795A>G (p.Gly1265=) http://identifiers.org/clinvar/186876 ^@ NM_000179.2(MSH6):c.3801+5G>A http://identifiers.org/clinvar/186432 ^@ NM_000179.2(MSH6):c.3808A>G (p.Met1270Val) http://identifiers.org/clinvar/185867 ^@ NM_000179.2(MSH6):c.3893A>G (p.Tyr1298Cys) http://identifiers.org/clinvar/185639 ^@ NM_000179.2(MSH6):c.3912G>T (p.Arg1304Ser) http://identifiers.org/clinvar/185374 ^@ NM_000179.2(MSH6):c.3948A>T (p.Gly1316=) http://identifiers.org/clinvar/187682 ^@ NM_000179.2(MSH6):c.3951T>G (p.His1317Gln) http://identifiers.org/clinvar/187326 ^@ NM_000179.2(MSH6):c.3976A>C (p.Met1326Leu) http://identifiers.org/clinvar/185321 ^@ NM_000179.2(MSH6):c.3978G>A (p.Met1326Ile) http://identifiers.org/clinvar/184998 ^@ NM_000179.2(MSH6):c.3980_3983dupATCA (p.Leu1330Valfs) http://identifiers.org/clinvar/184389 ^@ NM_000179.2(MSH6):c.4000C>T (p.Arg1334Trp) http://identifiers.org/clinvar/185601 ^@ NM_000179.2(MSH6):c.4001+5C>G http://identifiers.org/clinvar/184807 ^@ NM_000179.2(MSH6):c.4002-4T>C http://identifiers.org/clinvar/187446 ^@ NM_000179.2(MSH6):c.4044A>C (p.Glu1348Asp) http://identifiers.org/clinvar/185259 ^@ NM_000179.2(MSH6):c.4062_4065dupGACT (p.Leu1356Aspfs) http://identifiers.org/clinvar/187324 ^@ NM_000179.2(MSH6):c.4068G>A (p.Leu1356=) http://identifiers.org/clinvar/186897 ^@ NM_000179.2(MSH6):c.*3T>C http://identifiers.org/clinvar/184272 ^@ NM_017849.3(TMEM127):c.565C>T (p.Leu189=) http://identifiers.org/clinvar/186727 ^@ NM_017849.3(TMEM127):c.394G>A (p.Ala132Thr) http://identifiers.org/clinvar/184568 ^@ NM_017849.3(TMEM127):c.324C>T (p.Leu108=) http://identifiers.org/clinvar/184865 ^@ NM_017849.3(TMEM127):c.288C>T (p.Ile96=) http://identifiers.org/clinvar/186566 ^@ NM_017849.3(TMEM127):c.253A>G (p.Met85Val) http://identifiers.org/clinvar/185610 ^@ NM_017849.3(TMEM127):c.13G>A (p.Gly5Arg) http://identifiers.org/clinvar/186635 ^@ NM_000551.3(VHL):c.95A>G (p.Glu32Gly) http://identifiers.org/clinvar/186316 ^@ NM_000551.3(VHL):c.209A>G (p.Glu70Gly) http://identifiers.org/clinvar/186220 ^@ NM_000551.3(VHL):c.238A>G (p.Ser80Gly) http://identifiers.org/clinvar/184664 ^@ NM_000551.3(VHL):c.275A>T (p.Asp92Val) http://identifiers.org/clinvar/184592 ^@ NM_000551.3(VHL):c.601C>T (p.Leu201=) http://identifiers.org/clinvar/186425 ^@ NM_000249.3(MLH1):c.-248C>G http://identifiers.org/clinvar/185671 ^@ NM_000249.3(MLH1):c.-244C>T http://identifiers.org/clinvar/185544 ^@ NM_000249.3(MLH1):c.-221C>T http://identifiers.org/clinvar/186388 ^@ NM_000249.3(MLH1):c.-205G>T http://identifiers.org/clinvar/185790 ^@ NM_000249.3(MLH1):c.9C>G (p.Phe3Leu) http://identifiers.org/clinvar/185608 ^@ NM_000249.3(MLH1):c.18G>A (p.Gly6=) http://identifiers.org/clinvar/184449 ^@ NM_000249.3(MLH1):c.24T>A (p.Ile8=) http://identifiers.org/clinvar/186982 ^@ NM_000249.3(MLH1):c.27G>A (p.Arg9=) http://identifiers.org/clinvar/186462 ^@ NM_000249.3(MLH1):c.108T>C (p.Ile36=) http://identifiers.org/clinvar/186115 ^@ NM_000249.3(MLH1):c.208-2A>C http://identifiers.org/clinvar/186967 ^@ NM_000249.3(MLH1):c.235A>C (p.Arg79=) http://identifiers.org/clinvar/187452 ^@ NM_000249.3(MLH1):c.241A>G (p.Thr81Ala) http://identifiers.org/clinvar/185633 ^@ NM_000249.3(MLH1):c.245_247delCTA (p.Thr82del) http://identifiers.org/clinvar/184486 ^@ NM_000249.3(MLH1):c.290A>G (p.Tyr97Cys) http://identifiers.org/clinvar/184174 ^@ NM_000249.3(MLH1):c.351G>A (p.Thr117=) http://identifiers.org/clinvar/185670 ^@ NM_000249.3(MLH1):c.410C>T (p.Ala137Val) http://identifiers.org/clinvar/187211 ^@ NM_000249.3(MLH1):c.415C>G (p.Pro139Ala) http://identifiers.org/clinvar/184545 ^@ NM_000249.3(MLH1):c.423A>G (p.Pro141=) http://identifiers.org/clinvar/185839 ^@ NM_000249.3(MLH1):c.449T>A (p.Ile150Asn) http://identifiers.org/clinvar/186027 ^@ NM_000249.3(MLH1):c.452C>T (p.Thr151Met) http://identifiers.org/clinvar/184683 ^@ NM_000249.3(MLH1):c.454G>A (p.Val152Met) http://identifiers.org/clinvar/185369 ^@ NM_000249.3(MLH1):c.534A>G (p.Glu178=) http://identifiers.org/clinvar/185186 ^@ NM_000249.3(MLH1):c.539_541delTTG (p.Val180del) http://identifiers.org/clinvar/185903 ^@ NM_000249.3(MLH1):c.554T>A (p.Val185Glu) http://identifiers.org/clinvar/185258 ^@ NM_000249.3(MLH1):c.568A>G (p.Ile190Val) http://identifiers.org/clinvar/186017 ^@ NM_000249.3(MLH1):c.601G>C (p.Val201Leu) http://identifiers.org/clinvar/184491 ^@ NM_000249.3(MLH1):c.636C>T (p.Thr212=) http://identifiers.org/clinvar/186389 ^@ NM_000249.3(MLH1):c.672T>C (p.Val224=) http://identifiers.org/clinvar/186965 ^@ NM_000249.3(MLH1):c.678A>T (p.Arg226=) http://identifiers.org/clinvar/184050 ^@ NM_000249.3(MLH1):c.682C>A (p.Leu228Met) http://identifiers.org/clinvar/186461 ^@ NM_000249.3(MLH1):c.695G>A (p.Gly232Glu) http://identifiers.org/clinvar/184022 ^@ NM_000249.3(MLH1):c.696A>T (p.Gly232=) http://identifiers.org/clinvar/186639 ^@ NM_000249.3(MLH1):c.748A>C (p.Asn250His) http://identifiers.org/clinvar/185876 ^@ NM_000249.3(MLH1):c.761A>G (p.Lys254Arg) http://identifiers.org/clinvar/187425 ^@ NM_000249.3(MLH1):c.786C>G (p.Ile262Met) http://identifiers.org/clinvar/187415 ^@ NM_000249.3(MLH1):c.790+4A>C http://identifiers.org/clinvar/187298 ^@ NM_000249.3(MLH1):c.805T>C (p.Ser269Pro) http://identifiers.org/clinvar/187629 ^@ NM_000249.3(MLH1):c.863C>T (p.Thr288Ile) http://identifiers.org/clinvar/185469 ^@ NM_000249.3(MLH1):c.919G>A (p.Val307Met) http://identifiers.org/clinvar/185359 ^@ NM_000249.3(MLH1):c.944A>C (p.His315Pro) http://identifiers.org/clinvar/187486 ^@ NM_000249.3(MLH1):c.954C>A (p.His318Gln) http://identifiers.org/clinvar/183730 ^@ NM_000249.3(MLH1):c.954C>T (p.His318=) http://identifiers.org/clinvar/186715 ^@ NM_000249.3(MLH1):c.1010C>G (p.Ser337Cys) http://identifiers.org/clinvar/184525 ^@ NM_000249.3(MLH1):c.1020C>G (p.Ser340=) http://identifiers.org/clinvar/185023 ^@ NM_000249.3(MLH1):c.1081A>G (p.Lys361Glu) http://identifiers.org/clinvar/183738 ^@ NM_000249.3(MLH1):c.1103C>T (p.Ser368Leu) http://identifiers.org/clinvar/184661 ^@ NM_000249.3(MLH1):c.1104G>A (p.Ser368=) http://identifiers.org/clinvar/186843 ^@ NM_000249.3(MLH1):c.1117G>A (p.Gly373Arg) http://identifiers.org/clinvar/187221 ^@ NM_000249.3(MLH1):c.1136A>C (p.Tyr379Ser) http://identifiers.org/clinvar/184677 ^@ NM_000249.3(MLH1):c.1140C>T (p.Ala380=) http://identifiers.org/clinvar/187024 ^@ NM_000249.3(MLH1):c.1178T>G (p.Leu393Arg) http://identifiers.org/clinvar/186075 ^@ NM_000249.3(MLH1):c.1191G>A (p.Leu397=) http://identifiers.org/clinvar/186968 ^@ NM_000249.3(MLH1):c.1200G>A (p.Leu400=) http://identifiers.org/clinvar/184239 ^@ NM_000249.3(MLH1):c.1230C>T (p.Ala410=) http://identifiers.org/clinvar/185131 ^@ NM_000249.3(MLH1):c.1232T>G (p.Ile411Ser) http://identifiers.org/clinvar/184416 ^@ NM_000249.3(MLH1):c.1236C>T (p.Val412=) http://identifiers.org/clinvar/186854 ^@ NM_000249.3(MLH1):c.1239A>G (p.Thr413=) http://identifiers.org/clinvar/187648 ^@ NM_000249.3(MLH1):c.1257_1273del17 (p.Ile419Metfs) http://identifiers.org/clinvar/183955 ^@ NM_000249.3(MLH1):c.1284T>C (p.Asp428=) http://identifiers.org/clinvar/186401 ^@ NM_000249.3(MLH1):c.1303C>A (p.Pro435Thr) http://identifiers.org/clinvar/186860 ^@ NM_000249.3(MLH1):c.1368A>G (p.Ser456=) http://identifiers.org/clinvar/186810 ^@ NM_000249.3(MLH1):c.1370A>T (p.Glu457Val) http://identifiers.org/clinvar/186483 ^@ NM_000249.3(MLH1):c.1393A>G (p.Thr465Ala) http://identifiers.org/clinvar/187313 ^@ NM_000249.3(MLH1):c.1400G>A (p.Ser467Asn) http://identifiers.org/clinvar/183714 ^@ NM_000249.3(MLH1):c.1415G>A (p.Arg472Lys) http://identifiers.org/clinvar/187668 ^@ NM_000249.3(MLH1):c.1432G>T (p.Asp478Tyr) http://identifiers.org/clinvar/185027 ^@ NM_000249.3(MLH1):c.1487C>T (p.Pro496Leu) http://identifiers.org/clinvar/186200 ^@ NM_000249.3(MLH1):c.1497G>T (p.Arg499Ser) http://identifiers.org/clinvar/185154 ^@ NM_000249.3(MLH1):c.1514G>A (p.Ser505Asn) http://identifiers.org/clinvar/186875 ^@ NM_000249.3(MLH1):c.1551A>G (p.Gly517=) http://identifiers.org/clinvar/187689 ^@ NM_000249.3(MLH1):c.1558+4C>T http://identifiers.org/clinvar/187310 ^@ NM_000249.3(MLH1):c.1572G>T (p.Met524Ile) http://identifiers.org/clinvar/185728 ^@ NM_000249.3(MLH1):c.1620G>A (p.Leu540=) http://identifiers.org/clinvar/187383 ^@ NM_000249.3(MLH1):c.1642T>C (p.Tyr548His) http://identifiers.org/clinvar/187733 ^@ NM_000249.3(MLH1):c.1665T>C (p.Leu555=) http://identifiers.org/clinvar/185187 ^@ NM_000249.3(MLH1):c.1667G>C (p.Ser556Thr) http://identifiers.org/clinvar/184562 ^@ NM_000249.3(MLH1):c.1677G>A (p.Leu559=) http://identifiers.org/clinvar/186100 ^@ NM_000249.3(MLH1):c.1690C>T (p.Leu564Phe) http://identifiers.org/clinvar/185937 ^@ NM_000249.3(MLH1):c.1743G>A (p.Pro581=) http://identifiers.org/clinvar/185757 ^@ NM_000249.3(MLH1):c.1755T>C (p.Leu585=) http://identifiers.org/clinvar/184860 ^@ NM_000249.3(MLH1):c.1770A>C (p.Leu590Phe) http://identifiers.org/clinvar/184889 ^@ NM_000249.3(MLH1):c.1779A>G (p.Pro593=) http://identifiers.org/clinvar/186026 ^@ NM_000249.3(MLH1):c.1854G>A (p.Lys618=) http://identifiers.org/clinvar/187082 ^@ NM_000249.3(MLH1):c.1858delG (p.Glu620Argfs) http://identifiers.org/clinvar/185190 ^@ NM_000249.3(MLH1):c.1890dupT (p.Asp631Terfs) http://identifiers.org/clinvar/184115 ^@ NM_000249.3(MLH1):c.1893T>C (p.Asp631=) http://identifiers.org/clinvar/185711 ^@ NM_000249.3(MLH1):c.1901G>T (p.Gly634Val) http://identifiers.org/clinvar/186206 ^@ NM_000249.3(MLH1):c.1938T>C (p.Tyr646=) http://identifiers.org/clinvar/185279 ^@ NM_000249.3(MLH1):c.1973T>C (p.Leu658Pro) http://identifiers.org/clinvar/186421 ^@ NM_000249.3(MLH1):c.1991T>G (p.Val664Gly) http://identifiers.org/clinvar/187389 ^@ NM_000249.3(MLH1):c.2002G>A (p.Glu668Lys) http://identifiers.org/clinvar/185758 ^@ NM_000249.3(MLH1):c.2094A>G (p.Ser698=) http://identifiers.org/clinvar/186481 ^@ NM_000249.3(MLH1):c.2107G>C (p.Glu703Gln) http://identifiers.org/clinvar/185561 ^@ NM_000249.3(MLH1):c.2148_2168del21ins5 http://identifiers.org/clinvar/186721 ^@ NM_000249.3(MLH1):c.2155A>G (p.Ile719Val) http://identifiers.org/clinvar/186198 ^@ NM_000249.3(MLH1):c.2162delA (p.Tyr721Leufs) http://identifiers.org/clinvar/187049 ^@ NM_000249.3(MLH1):c.2172_2173delGCinsAG (p.Arg725Gly) http://identifiers.org/clinvar/187247 ^@ NM_000249.3(MLH1):c.2221C>A (p.Leu741Met) http://identifiers.org/clinvar/187193 ^@ NM_000249.3(MLH1):c.2242G>A (p.Asp748Asn) http://identifiers.org/clinvar/185483 ^@ NM_000249.3(MLH1):c.2247A>C (p.Leu749=) http://identifiers.org/clinvar/185628 ^@ NM_000249.3(MLH1):c.2248_2249delTA (p.Tyr750Glnfs) http://identifiers.org/clinvar/185596 ^@ NM_000038.5(APC):c.18T>C (p.Tyr6=) http://identifiers.org/clinvar/186670 ^@ NM_000038.5(APC):c.60C>T (p.Asn20=) http://identifiers.org/clinvar/184702 ^@ NM_000038.5(APC):c.70C>T (p.Arg24Ter) http://identifiers.org/clinvar/185378 ^@ NM_000038.5(APC):c.79C>T (p.Leu27=) http://identifiers.org/clinvar/187036 ^@ NM_000038.5(APC):c.117T>C (p.Thr39=) http://identifiers.org/clinvar/185951 ^@ NM_000038.5(APC):c.154C>A (p.Gln52Lys) http://identifiers.org/clinvar/187228 ^@ NM_000038.5(APC):c.166G>C (p.Glu56Gln) http://identifiers.org/clinvar/185188 ^@ NM_000038.5(APC):c.181G>A (p.Ala61Thr) http://identifiers.org/clinvar/184117 ^@ NM_000038.5(APC):c.221-2A>G http://identifiers.org/clinvar/185837 ^@ NM_000038.5(APC):c.288T>C (p.Tyr96=) http://identifiers.org/clinvar/185623 ^@ NM_000038.5(APC):c.332G>A (p.Ser111Asn) http://identifiers.org/clinvar/186996 ^@ NM_000038.5(APC):c.372A>G (p.Val124=) http://identifiers.org/clinvar/184585 ^@ NM_000038.5(APC):c.393T>C (p.Thr131=) http://identifiers.org/clinvar/186272 ^@ NM_000038.5(APC):c.460G>A (p.Glu154Lys) http://identifiers.org/clinvar/187344 ^@ NM_000038.5(APC):c.537C>A (p.Ser179=) http://identifiers.org/clinvar/183974 ^@ NM_000038.5(APC):c.564A>G (p.Gln188=) http://identifiers.org/clinvar/185659 ^@ NM_000038.5(APC):c.645+2T>G http://identifiers.org/clinvar/184601 ^@ NM_000038.5(APC):c.669A>C (p.Gln223His) http://identifiers.org/clinvar/186663 ^@ NM_000038.5(APC):c.730-3C>T http://identifiers.org/clinvar/183928 ^@ NM_000038.5(APC):c.756C>T (p.Thr252=) http://identifiers.org/clinvar/185590 ^@ NM_000038.5(APC):c.759C>G (p.Gly253=) http://identifiers.org/clinvar/184329 ^@ NM_000038.5(APC):c.789T>A (p.Gly263=) http://identifiers.org/clinvar/187097 ^@ NM_000038.5(APC):c.794G>A (p.Gly265Glu) http://identifiers.org/clinvar/184696 ^@ NM_000038.5(APC):c.822T>C (p.Ser274=) http://identifiers.org/clinvar/185141 ^@ NM_000038.5(APC):c.835-3T>C http://identifiers.org/clinvar/184999 ^@ NM_000038.5(APC):c.847C>T (p.Arg283Ter) http://identifiers.org/clinvar/186754 ^@ NM_000038.5(APC):c.979A>G (p.Lys327Glu) http://identifiers.org/clinvar/186413 ^@ NM_000038.5(APC):c.993G>A (p.Ser331=) http://identifiers.org/clinvar/184937 ^@ NM_000038.5(APC):c.994C>T (p.Arg332Ter) http://identifiers.org/clinvar/187754 ^@ NM_000038.5(APC):c.995G>A (p.Arg332Gln) http://identifiers.org/clinvar/184983 ^@ NM_000038.5(APC):c.1031G>C (p.Cys344Ser) http://identifiers.org/clinvar/185193 ^@ NM_000038.5(APC):c.1121G>A (p.Arg374Gln) http://identifiers.org/clinvar/185636 ^@ NM_000038.5(APC):c.1197A>G (p.Arg399=) http://identifiers.org/clinvar/184925 ^@ NM_000038.5(APC):c.1293G>A (p.Met431Ile) http://identifiers.org/clinvar/185572 ^@ NM_000038.5(APC):c.1295A>G (p.Asp432Gly) http://identifiers.org/clinvar/186336 ^@ NM_000038.5(APC):c.1331A>G (p.His444Arg) http://identifiers.org/clinvar/187417 ^@ NM_000038.5(APC):c.1378G>A (p.Glu460Lys) http://identifiers.org/clinvar/187424 ^@ NM_000038.5(APC):c.1426G>A (p.Ala476Thr) http://identifiers.org/clinvar/185576 ^@ NM_000038.5(APC):c.1500T>C (p.Tyr500=) http://identifiers.org/clinvar/183927 ^@ NM_000038.5(APC):c.1557A>G (p.Leu519=) http://identifiers.org/clinvar/183784 ^@ NM_000038.5(APC):c.1686G>A (p.Thr562=) http://identifiers.org/clinvar/183766 ^@ NM_000038.5(APC):c.1695A>G (p.Glu565=) http://identifiers.org/clinvar/184100 ^@ NM_000038.5(APC):c.1722A>G (p.Glu574=) http://identifiers.org/clinvar/186647 ^@ NM_000038.5(APC):c.1908T>C (p.Gly636=) http://identifiers.org/clinvar/186530 ^@ NM_000038.5(APC):c.1982G>A (p.Cys661Tyr) http://identifiers.org/clinvar/186679 ^@ NM_000038.5(APC):c.2043T>C (p.Cys681=) http://identifiers.org/clinvar/185391 ^@ NM_000038.5(APC):c.2110G>A (p.Val704Ile) http://identifiers.org/clinvar/185647 ^@ NM_000038.5(APC):c.2148A>G (p.Lys716=) http://identifiers.org/clinvar/183919 ^@ NM_000038.5(APC):c.2205G>A (p.Ala735=) http://identifiers.org/clinvar/184580 ^@ NM_000038.5(APC):c.2222A>G (p.Asn741Ser) http://identifiers.org/clinvar/184078 ^@ NM_000038.5(APC):c.2232T>G (p.Ser744=) http://identifiers.org/clinvar/185733 ^@ NM_000038.5(APC):c.2465T>C (p.Leu822Pro) http://identifiers.org/clinvar/187390 ^@ NM_000038.5(APC):c.2483C>T (p.Thr828Ile) http://identifiers.org/clinvar/187018 ^@ NM_000038.5(APC):c.2500T>C (p.Ser834Pro) http://identifiers.org/clinvar/184116 ^@ NM_000038.5(APC):c.2631T>A (p.Gly877=) http://identifiers.org/clinvar/186817 ^@ NM_000038.5(APC):c.2645C>T (p.Thr882Ile) http://identifiers.org/clinvar/185738 ^@ NM_000038.5(APC):c.2739T>C (p.His913=) http://identifiers.org/clinvar/186058 ^@ NM_000038.5(APC):c.2805C>G (p.Tyr935Ter) http://identifiers.org/clinvar/183962 ^@ NM_000038.5(APC):c.2838A>G (p.Thr946=) http://identifiers.org/clinvar/185093 ^@ NM_000038.5(APC):c.2946G>A (p.Ser982=) http://identifiers.org/clinvar/185191 ^@ NM_000038.5(APC):c.2948T>C (p.Ile983Thr) http://identifiers.org/clinvar/186494 ^@ NM_000038.5(APC):c.2971G>T (p.Glu991Ter) http://identifiers.org/clinvar/184251 ^@ NM_000038.5(APC):c.3123A>G (p.Gln1041=) http://identifiers.org/clinvar/187683 ^@ NM_000038.5(APC):c.3125G>C (p.Ser1042Thr) http://identifiers.org/clinvar/186271 ^@ NM_000038.5(APC):c.3166A>G (p.Ile1056Val) http://identifiers.org/clinvar/183831 ^@ NM_000038.5(APC):c.3258C>T (p.His1086=) http://identifiers.org/clinvar/183897 ^@ NM_000038.5(APC):c.3342A>G (p.Arg1114=) http://identifiers.org/clinvar/186532 ^@ NM_000038.5(APC):c.3471_3474delGAGA (p.Glu1157Aspfs) http://identifiers.org/clinvar/185656 ^@ NM_000038.5(APC):c.3486_3487delTA (p.Tyr1162Terfs) http://identifiers.org/clinvar/187453 ^@ NM_000038.5(APC):c.3510A>G (p.Lys1170=) http://identifiers.org/clinvar/187434 ^@ NM_000038.5(APC):c.3535T>C (p.Tyr1179His) http://identifiers.org/clinvar/183865 ^@ NM_000038.5(APC):c.3555A>G (p.Thr1185=) http://identifiers.org/clinvar/187189 ^@ NM_000038.5(APC):c.3563C>T (p.Pro1188Leu) http://identifiers.org/clinvar/187505 ^@ NM_000038.5(APC):c.3653C>T (p.Thr1218Met) http://identifiers.org/clinvar/187529 ^@ NM_000038.5(APC):c.3677A>G (p.Lys1226Arg) http://identifiers.org/clinvar/183767 ^@ NM_000038.5(APC):c.3732A>G (p.Gln1244=) http://identifiers.org/clinvar/184543 ^@ NM_000038.5(APC):c.3739G>A (p.Ala1247Thr) http://identifiers.org/clinvar/187473 ^@ NM_000038.5(APC):c.3807_3808delAT (p.Ile1269Metfs) http://identifiers.org/clinvar/184023 ^@ NM_000038.5(APC):c.3909A>G (p.Gln1303=) http://identifiers.org/clinvar/186133 ^@ NM_000038.5(APC):c.3910A>G (p.Ile1304Val) http://identifiers.org/clinvar/184173 ^@ NM_000038.5(APC):c.3963C>T (p.Ser1321=) http://identifiers.org/clinvar/184249 ^@ NM_000038.5(APC):c.4005C>T (p.Ser1335=) http://identifiers.org/clinvar/184973 ^@ NM_000038.5(APC):c.4160G>A (p.Cys1387Tyr) http://identifiers.org/clinvar/184325 ^@ NM_000038.5(APC):c.4200G>C (p.Ser1400=) http://identifiers.org/clinvar/184586 ^@ NM_000038.5(APC):c.4260C>A (p.Pro1420=) http://identifiers.org/clinvar/186951 ^@ NM_000038.5(APC):c.4311A>G (p.Lys1437=) http://identifiers.org/clinvar/186279 ^@ NM_000038.5(APC):c.4334C>T (p.Thr1445Ile) http://identifiers.org/clinvar/186724 ^@ NM_000038.5(APC):c.4416A>T (p.Val1472=) http://identifiers.org/clinvar/186197 ^@ NM_000038.5(APC):c.4424C>T (p.Ala1475Val) http://identifiers.org/clinvar/184098 ^@ NM_000038.5(APC):c.4434G>A (p.Arg1478=) http://identifiers.org/clinvar/185626 ^@ NM_000038.5(APC):c.4463T>C (p.Leu1488Ser) http://identifiers.org/clinvar/186645 ^@ NM_000038.5(APC):c.4534G>A (p.Asp1512Asn) http://identifiers.org/clinvar/183948 ^@ NM_000038.5(APC):c.4614A>G (p.Glu1538=) http://identifiers.org/clinvar/184934 ^@ NM_000038.5(APC):c.4621C>T (p.Gln1541Ter) http://identifiers.org/clinvar/185024 ^@ NM_000038.5(APC):c.4640A>G (p.Glu1547Gly) http://identifiers.org/clinvar/183857 ^@ NM_000038.5(APC):c.4669_4670delAT (p.Ile1557Terfs) http://identifiers.org/clinvar/184904 ^@ NM_000038.5(APC):c.4800A>T (p.Lys1600Asn) http://identifiers.org/clinvar/185562 ^@ NM_000038.5(APC):c.4824_4827delACCAinsTAC (p.Lys1608Asnfs) http://identifiers.org/clinvar/184169 ^@ NM_000038.5(APC):c.5105G>A (p.Gly1702Glu) http://identifiers.org/clinvar/185092 ^@ NM_000038.5(APC):c.5151_5152insATT (p.Lys1717_Ala1718insIle) http://identifiers.org/clinvar/184975 ^@ NM_000038.5(APC):c.5178A>G (p.Glu1726=) http://identifiers.org/clinvar/184596 ^@ NM_000038.5(APC):c.5216A>G (p.Lys1739Arg) http://identifiers.org/clinvar/185312 ^@ NM_000038.5(APC):c.5236A>G (p.Ile1746Val) http://identifiers.org/clinvar/184668 ^@ NM_000038.5(APC):c.5250C>T (p.Val1750=) http://identifiers.org/clinvar/186436 ^@ NM_000038.5(APC):c.5257G>T (p.Ala1753Ser) http://identifiers.org/clinvar/186718 ^@ NM_000038.5(APC):c.5268T>A (p.Ser1756=) http://identifiers.org/clinvar/184535 ^@ NM_000038.5(APC):c.5271T>C (p.Ser1757=) http://identifiers.org/clinvar/186448 ^@ NM_000038.5(APC):c.5441A>G (p.Gln1814Arg) http://identifiers.org/clinvar/187460 ^@ NM_000038.5(APC):c.5485A>T (p.Asn1829Tyr) http://identifiers.org/clinvar/183888 ^@ NM_000038.5(APC):c.5571A>C (p.Ser1857=) http://identifiers.org/clinvar/184835 ^@ NM_000038.5(APC):c.5603A>G (p.Asp1868Gly) http://identifiers.org/clinvar/187611 ^@ NM_000038.5(APC):c.5608G>A (p.Asp1870Asn) http://identifiers.org/clinvar/184440 ^@ NM_000038.5(APC):c.5685C>G (p.Thr1895=) http://identifiers.org/clinvar/185869 ^@ NM_000038.5(APC):c.5715A>G (p.Gln1905=) http://identifiers.org/clinvar/183880 ^@ NM_000038.5(APC):c.5757delT (p.Arg1920Glufs) http://identifiers.org/clinvar/185443 ^@ NM_000038.5(APC):c.5759G>A (p.Arg1920Gln) http://identifiers.org/clinvar/184255 ^@ NM_000038.5(APC):c.5790A>G (p.Gln1930=) http://identifiers.org/clinvar/183878 ^@ NM_000038.5(APC):c.5805G>A (p.Gln1935=) http://identifiers.org/clinvar/185564 ^@ NM_000038.5(APC):c.5816A>T (p.Asp1939Val) http://identifiers.org/clinvar/185103 ^@ NM_000038.5(APC):c.5839A>G (p.Thr1947Ala) http://identifiers.org/clinvar/187543 ^@ NM_000038.5(APC):c.5907G>C (p.Leu1969=) http://identifiers.org/clinvar/187282 ^@ NM_000038.5(APC):c.5912C>G (p.Ser1971Cys) http://identifiers.org/clinvar/186043 ^@ NM_000038.5(APC):c.6028A>G (p.Lys2010Glu) http://identifiers.org/clinvar/186942 ^@ NM_000038.5(APC):c.6063C>T (p.Phe2021=) http://identifiers.org/clinvar/187711 ^@ NM_000038.5(APC):c.6090T>C (p.Leu2030=) http://identifiers.org/clinvar/184130 ^@ NM_000038.5(APC):c.6117G>T (p.Leu2039Phe) http://identifiers.org/clinvar/186536 ^@ NM_000038.5(APC):c.6126_6141del16 (p.Ile2043Glnfs) http://identifiers.org/clinvar/185089 ^@ NM_000038.5(APC):c.6136G>A (p.Ala2046Thr) http://identifiers.org/clinvar/183832 ^@ NM_000038.5(APC):c.6219T>G (p.Gly2073=) http://identifiers.org/clinvar/187281 ^@ NM_000038.5(APC):c.6232C>G (p.Leu2078Val) http://identifiers.org/clinvar/186466 ^@ NM_000038.5(APC):c.6257C>G (p.Pro2086Arg) http://identifiers.org/clinvar/184052 ^@ NM_000038.5(APC):c.6358G>T (p.Ala2120Ser) http://identifiers.org/clinvar/183971 ^@ NM_000038.5(APC):c.6387G>A (p.Ser2129=) http://identifiers.org/clinvar/187631 ^@ NM_000038.5(APC):c.6431T>C (p.Leu2144Pro) http://identifiers.org/clinvar/185017 ^@ NM_000038.5(APC):c.6446A>C (p.His2149Pro) http://identifiers.org/clinvar/186613 ^@ NM_000038.5(APC):c.6474C>G (p.Pro2158=) http://identifiers.org/clinvar/184071 ^@ NM_000038.5(APC):c.6510A>C (p.Pro2170=) http://identifiers.org/clinvar/187662 ^@ NM_000038.5(APC):c.6560G>T (p.Gly2187Val) http://identifiers.org/clinvar/186972 ^@ NM_000038.5(APC):c.6680G>T (p.Gly2227Val) http://identifiers.org/clinvar/186493 ^@ NM_000038.5(APC):c.6684G>A (p.Arg2228=) http://identifiers.org/clinvar/185231 ^@ NM_000038.5(APC):c.6700C>T (p.Pro2234Ser) http://identifiers.org/clinvar/187612 ^@ NM_000038.5(APC):c.6709C>T (p.Arg2237Ter) http://identifiers.org/clinvar/186829 ^@ NM_000038.5(APC):c.6757C>G (p.Leu2253Val) http://identifiers.org/clinvar/186999 ^@ NM_000038.5(APC):c.6811_6813delCCT (p.Pro2271del) http://identifiers.org/clinvar/186385 ^@ NM_000038.5(APC):c.6828A>G (p.Pro2276=) http://identifiers.org/clinvar/184244 ^@ NM_000038.5(APC):c.6844T>C (p.Leu2282=) http://identifiers.org/clinvar/187423 ^@ NM_000038.5(APC):c.6942G>A (p.Gln2314=) http://identifiers.org/clinvar/184234 ^@ NM_000038.5(APC):c.6945A>G (p.Gln2315=) http://identifiers.org/clinvar/184671 ^@ NM_000038.5(APC):c.7032A>G (p.Gln2344=) http://identifiers.org/clinvar/186039 ^@ NM_000038.5(APC):c.7039A>G (p.Arg2347Gly) http://identifiers.org/clinvar/186208 ^@ NM_000038.5(APC):c.7077A>G (p.Ser2359=) http://identifiers.org/clinvar/185631 ^@ NM_000038.5(APC):c.7098T>C (p.Tyr2366=) http://identifiers.org/clinvar/187494 ^@ NM_000038.5(APC):c.7130A>G (p.Asn2377Ser) http://identifiers.org/clinvar/184824 ^@ NM_000038.5(APC):c.7178G>A (p.Arg2393Lys) http://identifiers.org/clinvar/187294 ^@ NM_000038.5(APC):c.7269A>G (p.Lys2423=) http://identifiers.org/clinvar/184414 ^@ NM_000038.5(APC):c.7281T>C (p.Ser2427=) http://identifiers.org/clinvar/184494 ^@ NM_000038.5(APC):c.7290T>C (p.Asp2430=) http://identifiers.org/clinvar/186808 ^@ NM_000038.5(APC):c.7396T>C (p.Ser2466Pro) http://identifiers.org/clinvar/184474 ^@ NM_000038.5(APC):c.7402T>C (p.Ser2468Pro) http://identifiers.org/clinvar/187181 ^@ NM_000038.5(APC):c.7444C>G (p.Pro2482Ala) http://identifiers.org/clinvar/184756 ^@ NM_000038.5(APC):c.7472T>C (p.Met2491Thr) http://identifiers.org/clinvar/186722 ^@ NM_000038.5(APC):c.7531C>T (p.Leu2511Phe) http://identifiers.org/clinvar/187664 ^@ NM_000038.5(APC):c.7558G>A (p.Gly2520Arg) http://identifiers.org/clinvar/184763 ^@ NM_000038.5(APC):c.7574G>A (p.Arg2525His) http://identifiers.org/clinvar/184604 ^@ NM_000038.5(APC):c.7578T>C (p.His2526=) http://identifiers.org/clinvar/186116 ^@ NM_000038.5(APC):c.7610C>G (p.Ser2537Cys) http://identifiers.org/clinvar/183807 ^@ NM_000038.5(APC):c.7629G>A (p.Arg2543=) http://identifiers.org/clinvar/184665 ^@ NM_000038.5(APC):c.7821C>T (p.Ser2607=) http://identifiers.org/clinvar/184082 ^@ NM_000038.5(APC):c.7878T>G (p.Thr2626=) http://identifiers.org/clinvar/185449 ^@ NM_000038.5(APC):c.7929A>G (p.Leu2643=) http://identifiers.org/clinvar/184432 ^@ NM_000038.5(APC):c.7986G>A (p.Glu2662=) http://identifiers.org/clinvar/184540 ^@ NM_000038.5(APC):c.8010A>G (p.Arg2670=) http://identifiers.org/clinvar/184254 ^@ NM_000038.5(APC):c.8043G>C (p.Pro2681=) http://identifiers.org/clinvar/184147 ^@ NM_000038.5(APC):c.8100T>C (p.Asn2700=) http://identifiers.org/clinvar/184361 ^@ NM_000038.5(APC):c.8208T>G (p.Thr2736=) http://identifiers.org/clinvar/184410 ^@ NM_000038.5(APC):c.8235T>A (p.Pro2745=) http://identifiers.org/clinvar/185492 ^@ NM_000038.5(APC):c.8247_8248delAGinsTA (p.Glu2750Lys) http://identifiers.org/clinvar/186894 ^@ NM_000038.5(APC):c.8250G>A (p.Glu2750=) http://identifiers.org/clinvar/187373 ^@ NM_000038.5(APC):c.8282C>G (p.Pro2761Arg) http://identifiers.org/clinvar/184457 ^@ NM_000038.5(APC):c.8367C>T (p.Ser2789=) http://identifiers.org/clinvar/185372 ^@ NM_000038.5(APC):c.8405C>T (p.Pro2802Leu) http://identifiers.org/clinvar/186379 ^@ NM_000038.5(APC):c.8429A>G (p.Asn2810Ser) http://identifiers.org/clinvar/186890 ^@ NM_000038.5(APC):c.8434A>G (p.Asn2812Asp) http://identifiers.org/clinvar/185984 ^@ NM_005732.3(RAD50):c.24C>T (p.Ser8=) http://identifiers.org/clinvar/184128 ^@ NM_005732.3(RAD50):c.39G>A (p.Arg13=) http://identifiers.org/clinvar/187528 ^@ NM_005732.3(RAD50):c.126G>A (p.Lys42=) http://identifiers.org/clinvar/185431 ^@ NM_005732.3(RAD50):c.134T>C (p.Ile45Thr) http://identifiers.org/clinvar/184336 ^@ NM_005732.3(RAD50):c.204C>T (p.His68=) http://identifiers.org/clinvar/186347 ^@ NM_005732.3(RAD50):c.205G>A (p.Asp69Asn) http://identifiers.org/clinvar/184793 ^@ NM_005732.3(RAD50):c.220C>G (p.Gln74Glu) http://identifiers.org/clinvar/184899 ^@ NM_005732.3(RAD50):c.259C>T (p.Arg87Cys) http://identifiers.org/clinvar/185400 ^@ NM_005732.3(RAD50):c.281T>C (p.Ile94Thr) http://identifiers.org/clinvar/186303 ^@ NM_005732.3(RAD50):c.282A>G (p.Ile94Met) http://identifiers.org/clinvar/186438 ^@ NM_005732.3(RAD50):c.344A>G (p.Glu115Gly) http://identifiers.org/clinvar/185377 ^@ NM_005732.3(RAD50):c.366G>A (p.Lys122=) http://identifiers.org/clinvar/184970 ^@ NM_005732.3(RAD50):c.395A>G (p.Lys132Arg) http://identifiers.org/clinvar/184916 ^@ NM_005732.3(RAD50):c.398G>T (p.Cys133Phe) http://identifiers.org/clinvar/184885 ^@ NM_005732.3(RAD50):c.411C>T (p.Asp137=) http://identifiers.org/clinvar/187117 ^@ NM_005732.3(RAD50):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/184520 ^@ NM_005732.3(RAD50):c.426T>C (p.Ser142=) http://identifiers.org/clinvar/184750 ^@ NM_005732.3(RAD50):c.454A>T (p.Asn152Tyr) http://identifiers.org/clinvar/184565 ^@ NM_005732.3(RAD50):c.459T>C (p.Asn153=) http://identifiers.org/clinvar/187635 ^@ NM_005732.3(RAD50):c.496T>G (p.Leu166Val) http://identifiers.org/clinvar/184550 ^@ NM_005732.3(RAD50):c.541dupT (p.Ser181Phefs) http://identifiers.org/clinvar/184144 ^@ NM_005732.3(RAD50):c.549A>T (p.Thr183=) http://identifiers.org/clinvar/185942 ^@ NM_005732.3(RAD50):c.556A>T (p.Ile186Phe) http://identifiers.org/clinvar/187500 ^@ NM_005732.3(RAD50):c.564C>T (p.Ala188=) http://identifiers.org/clinvar/185513 ^@ NM_005732.3(RAD50):c.581A>T (p.Gln194Leu) http://identifiers.org/clinvar/184289 ^@ NM_005732.3(RAD50):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/184663 ^@ NM_005732.3(RAD50):c.612A>G (p.Lys204=) http://identifiers.org/clinvar/186583 ^@ NM_005732.3(RAD50):c.667A>G (p.Ile223Val) http://identifiers.org/clinvar/187068 ^@ NM_005732.3(RAD50):c.680T>G (p.Ile227Ser) http://identifiers.org/clinvar/185010 ^@ NM_005732.3(RAD50):c.687delT (p.Ser229Argfs) http://identifiers.org/clinvar/185142 ^@ NM_005732.3(RAD50):c.695C>A (p.Ala232Asp) http://identifiers.org/clinvar/184804 ^@ NM_005732.3(RAD50):c.705A>G (p.Thr235=) http://identifiers.org/clinvar/184834 ^@ NM_005732.3(RAD50):c.740A>G (p.Glu247Gly) http://identifiers.org/clinvar/185080 ^@ NM_005732.3(RAD50):c.741A>G (p.Glu247=) http://identifiers.org/clinvar/185222 ^@ NM_005732.3(RAD50):c.756+2T>C http://identifiers.org/clinvar/187507 ^@ NM_005732.3(RAD50):c.760C>T (p.Arg254Cys) http://identifiers.org/clinvar/186620 ^@ NM_005732.3(RAD50):c.771A>G (p.Glu257=) http://identifiers.org/clinvar/185329 ^@ NM_005732.3(RAD50):c.785T>G (p.Leu262Arg) http://identifiers.org/clinvar/186705 ^@ NM_005732.3(RAD50):c.871G>A (p.Glu291Lys) http://identifiers.org/clinvar/184312 ^@ NM_005732.3(RAD50):c.921A>G (p.Leu307=) http://identifiers.org/clinvar/187179 ^@ NM_005732.3(RAD50):c.922T>C (p.Tyr308His) http://identifiers.org/clinvar/184390 ^@ NM_005732.3(RAD50):c.927C>T (p.His309=) http://identifiers.org/clinvar/187012 ^@ NM_005732.3(RAD50):c.965delT (p.Leu322Trpfs) http://identifiers.org/clinvar/185520 ^@ NM_005732.3(RAD50):c.985C>T (p.Leu329=) http://identifiers.org/clinvar/184960 ^@ NM_005732.3(RAD50):c.1011G>A (p.Arg337=) http://identifiers.org/clinvar/184672 ^@ NM_005732.3(RAD50):c.1026A>G (p.Glu342=) http://identifiers.org/clinvar/186201 ^@ NM_005732.3(RAD50):c.1052-5A>T http://identifiers.org/clinvar/186055 ^@ NM_005732.3(RAD50):c.1055G>A (p.Arg352His) http://identifiers.org/clinvar/183846 ^@ NM_005732.3(RAD50):c.1059A>G (p.Leu353=) http://identifiers.org/clinvar/186310 ^@ NM_005732.3(RAD50):c.1068A>G (p.Gln356=) http://identifiers.org/clinvar/185007 ^@ NM_005732.3(RAD50):c.1094G>T (p.Arg365Leu) http://identifiers.org/clinvar/186305 ^@ NM_005732.3(RAD50):c.1131G>A (p.Gln377=) http://identifiers.org/clinvar/185855 ^@ NM_005732.3(RAD50):c.1132C>A (p.Leu378Ile) http://identifiers.org/clinvar/187731 ^@ NM_005732.3(RAD50):c.1190A>T (p.His397Leu) http://identifiers.org/clinvar/187535 ^@ NM_005732.3(RAD50):c.1199T>A (p.Val400Glu) http://identifiers.org/clinvar/187339 ^@ NM_005732.3(RAD50):c.1206_1209delGAGA (p.Glu402Aspfs) http://identifiers.org/clinvar/187490 ^@ NM_005732.3(RAD50):c.1208_1209dupGA (p.Gln404Aspfs) http://identifiers.org/clinvar/184469 ^@ NM_005732.3(RAD50):c.1237C>T (p.Gln413Ter) http://identifiers.org/clinvar/184271 ^@ NM_005732.3(RAD50):c.1239A>G (p.Gln413=) http://identifiers.org/clinvar/184246 ^@ NM_005732.3(RAD50):c.1255G>A (p.Ala419Thr) http://identifiers.org/clinvar/187444 ^@ NM_005732.3(RAD50):c.1270_1271delCT (p.Leu424Glufs) http://identifiers.org/clinvar/183910 ^@ NM_005732.3(RAD50):c.1284G>A (p.Gln428=) http://identifiers.org/clinvar/186117 ^@ NM_005732.3(RAD50):c.1311T>C (p.Thr437=) http://identifiers.org/clinvar/184939 ^@ NM_005732.3(RAD50):c.1340C>T (p.Ser447Leu) http://identifiers.org/clinvar/184945 ^@ NM_005732.3(RAD50):c.1394A>G (p.Gln465Arg) http://identifiers.org/clinvar/183908 ^@ NM_005732.3(RAD50):c.1540T>C (p.Leu514=) http://identifiers.org/clinvar/186695 ^@ NM_005732.3(RAD50):c.1544_1547delACAG (p.Asp515Glyfs) http://identifiers.org/clinvar/187548 ^@ NM_005732.3(RAD50):c.1554G>C (p.Leu518=) http://identifiers.org/clinvar/184760 ^@ NM_005732.3(RAD50):c.1555C>T (p.Arg519Cys) http://identifiers.org/clinvar/184618 ^@ NM_005732.3(RAD50):c.1602A>G (p.Thr534=) http://identifiers.org/clinvar/185655 ^@ NM_005732.3(RAD50):c.1623G>A (p.Leu541=) http://identifiers.org/clinvar/187267 ^@ NM_005732.3(RAD50):c.1624A>G (p.Thr542Ala) http://identifiers.org/clinvar/185145 ^@ NM_005732.3(RAD50):c.1636-4A>G http://identifiers.org/clinvar/186938 ^@ NM_005732.3(RAD50):c.1636G>A (p.Ala546Thr) http://identifiers.org/clinvar/187751 ^@ NM_005732.3(RAD50):c.1648G>C (p.Glu550Gln) http://identifiers.org/clinvar/186084 ^@ NM_005732.3(RAD50):c.1677C>T (p.His559=) http://identifiers.org/clinvar/187658 ^@ NM_005732.3(RAD50):c.1680T>G (p.Ser560Arg) http://identifiers.org/clinvar/184321 ^@ NM_005732.3(RAD50):c.1686A>G (p.Glu562=) http://identifiers.org/clinvar/186391 ^@ NM_005732.3(RAD50):c.1713C>T (p.Pro571=) http://identifiers.org/clinvar/185682 ^@ NM_005732.3(RAD50):c.1715A>G (p.Asn572Ser) http://identifiers.org/clinvar/186054 ^@ NM_005732.3(RAD50):c.1720A>C (p.Lys574Gln) http://identifiers.org/clinvar/187510 ^@ NM_005732.3(RAD50):c.1752A>G (p.Ser584=) http://identifiers.org/clinvar/184658 ^@ NM_005732.3(RAD50):c.1755A>G (p.Lys585=) http://identifiers.org/clinvar/187651 ^@ NM_005732.3(RAD50):c.1769C>G (p.Thr590Ser) http://identifiers.org/clinvar/187438 ^@ NM_005732.3(RAD50):c.1803A>G (p.Leu601=) http://identifiers.org/clinvar/186331 ^@ NM_005732.3(RAD50):c.1860G>A (p.Glu620=) http://identifiers.org/clinvar/183960 ^@ NM_005732.3(RAD50):c.1875C>T (p.Tyr625=) http://identifiers.org/clinvar/187441 ^@ NM_005732.3(RAD50):c.1924T>G (p.Leu642Val) http://identifiers.org/clinvar/185432 ^@ NM_005732.3(RAD50):c.1932G>A (p.Arg644=) http://identifiers.org/clinvar/186163 ^@ NM_005732.3(RAD50):c.1965G>A (p.Gln655=) http://identifiers.org/clinvar/186977 ^@ NM_005732.3(RAD50):c.1967G>A (p.Arg656Gln) http://identifiers.org/clinvar/187332 ^@ NM_005732.3(RAD50):c.1982G>C (p.Gly661Ala) http://identifiers.org/clinvar/184681 ^@ NM_005732.3(RAD50):c.1986C>T (p.Ala662=) http://identifiers.org/clinvar/184849 ^@ NM_005732.3(RAD50):c.1988C>T (p.Thr663Ile) http://identifiers.org/clinvar/183912 ^@ NM_005732.3(RAD50):c.1992A>G (p.Ala664=) http://identifiers.org/clinvar/186932 ^@ NM_005732.3(RAD50):c.2024A>G (p.Asp675Gly) http://identifiers.org/clinvar/183827 ^@ NM_005732.3(RAD50):c.2046C>T (p.Pro682=) http://identifiers.org/clinvar/185548 ^@ NM_005732.3(RAD50):c.2047G>A (p.Val683Ile) http://identifiers.org/clinvar/186275 ^@ NM_005732.3(RAD50):c.2092A>G (p.Ile698Val) http://identifiers.org/clinvar/184096 ^@ NM_005732.3(RAD50):c.2121T>C (p.Leu707=) http://identifiers.org/clinvar/184902 ^@ NM_005732.3(RAD50):c.2163A>G (p.Lys721=) http://identifiers.org/clinvar/184252 ^@ NM_005732.3(RAD50):c.2196T>A (p.Leu732=) http://identifiers.org/clinvar/184917 ^@ NM_005732.3(RAD50):c.2202delC (p.Met735Terfs) http://identifiers.org/clinvar/185454 ^@ NM_005732.3(RAD50):c.2203A>C (p.Met735Leu) http://identifiers.org/clinvar/187622 ^@ NM_005732.3(RAD50):c.2209C>G (p.Gln737Glu) http://identifiers.org/clinvar/184615 ^@ NM_005732.3(RAD50):c.2217A>T (p.Ile739=) http://identifiers.org/clinvar/185613 ^@ NM_005732.3(RAD50):c.2260C>A (p.Leu754Met) http://identifiers.org/clinvar/187638 ^@ NM_005732.3(RAD50):c.2262G>A (p.Leu754=) http://identifiers.org/clinvar/183881 ^@ NM_005732.3(RAD50):c.2298C>T (p.Asn766=) http://identifiers.org/clinvar/183862 ^@ NM_005732.3(RAD50):c.2313A>G (p.Gln771=) http://identifiers.org/clinvar/187078 ^@ NM_005732.3(RAD50):c.2336T>C (p.Met779Thr) http://identifiers.org/clinvar/183904 ^@ NM_005732.3(RAD50):c.2352T>C (p.Ser784=) http://identifiers.org/clinvar/184797 ^@ NM_005732.3(RAD50):c.2454A>T (p.Gly818=) http://identifiers.org/clinvar/186866 ^@ NM_005732.3(RAD50):c.2500G>C (p.Glu834Gln) http://identifiers.org/clinvar/185451 ^@ NM_005732.3(RAD50):c.2516T>A (p.Leu839Ter) http://identifiers.org/clinvar/185058 ^@ NM_005732.3(RAD50):c.2517dupA (p.Asp840Argfs) http://identifiers.org/clinvar/186121 ^@ NM_005732.3(RAD50):c.2596A>G (p.Thr866Ala) http://identifiers.org/clinvar/185330 ^@ NM_005732.3(RAD50):c.2603A>G (p.Asn868Ser) http://identifiers.org/clinvar/185843 ^@ NM_005732.3(RAD50):c.2604T>G (p.Asn868Lys) http://identifiers.org/clinvar/187249 ^@ NM_005732.3(RAD50):c.2617G>A (p.Glu873Lys) http://identifiers.org/clinvar/186924 ^@ NM_005732.3(RAD50):c.2648G>A (p.Arg883His) http://identifiers.org/clinvar/186441 ^@ NM_005732.3(RAD50):c.2688T>C (p.Thr896=) http://identifiers.org/clinvar/185227 ^@ NM_005732.3(RAD50):c.2790C>A (p.Ile930=) http://identifiers.org/clinvar/185519 ^@ NM_005732.3(RAD50):c.2805A>G (p.Thr935=) http://identifiers.org/clinvar/185919 ^@ NM_005732.3(RAD50):c.2823G>A (p.Gln941=) http://identifiers.org/clinvar/187269 ^@ NM_005732.3(RAD50):c.2839A>G (p.Ile947Val) http://identifiers.org/clinvar/184725 ^@ NM_005732.3(RAD50):c.2844A>G (p.Lys948=) http://identifiers.org/clinvar/186771 ^@ NM_005732.3(RAD50):c.2891A>T (p.Tyr964Phe) http://identifiers.org/clinvar/184957 ^@ NM_005732.3(RAD50):c.2903G>A (p.Gly968Glu) http://identifiers.org/clinvar/187321 ^@ NM_005732.3(RAD50):c.3021T>A (p.Asp1007Glu) http://identifiers.org/clinvar/184269 ^@ NM_005732.3(RAD50):c.3027T>C (p.Asp1009=) http://identifiers.org/clinvar/186445 ^@ NM_005732.3(RAD50):c.3061A>G (p.Asn1021Asp) http://identifiers.org/clinvar/187019 ^@ NM_005732.3(RAD50):c.3080G>T (p.Arg1027Ile) http://identifiers.org/clinvar/183883 ^@ NM_005732.3(RAD50):c.3087G>A (p.Glu1029=) http://identifiers.org/clinvar/185471 ^@ NM_005732.3(RAD50):c.3087_3089delGGA (p.Glu1030del) http://identifiers.org/clinvar/183821 ^@ NM_005732.3(RAD50):c.3153G>A (p.Leu1051=) http://identifiers.org/clinvar/185510 ^@ NM_005732.3(RAD50):c.3164G>A (p.Ser1055Asn) http://identifiers.org/clinvar/187532 ^@ NM_005732.3(RAD50):c.3164+1G>A http://identifiers.org/clinvar/187599 ^@ NM_005732.3(RAD50):c.3164+1G>T http://identifiers.org/clinvar/186191 ^@ NM_005732.3(RAD50):c.3177G>C (p.Lys1059Asn) http://identifiers.org/clinvar/185172 ^@ NM_005732.3(RAD50):c.3195C>T (p.Asp1065=) http://identifiers.org/clinvar/187399 ^@ NM_005732.3(RAD50):c.3204A>C (p.Lys1068Asn) http://identifiers.org/clinvar/185458 ^@ NM_005732.3(RAD50):c.3209delA (p.Asn1070Ilefs) http://identifiers.org/clinvar/187670 ^@ NM_005732.3(RAD50):c.3334A>T (p.Arg1112Trp) http://identifiers.org/clinvar/186970 ^@ NM_005732.3(RAD50):c.3342A>G (p.Thr1114=) http://identifiers.org/clinvar/187497 ^@ NM_005732.3(RAD50):c.3345A>C (p.Glu1115Asp) http://identifiers.org/clinvar/185949 ^@ NM_005732.3(RAD50):c.3389+5G>A http://identifiers.org/clinvar/184019 ^@ NM_005732.3(RAD50):c.3408C>T (p.His1136=) http://identifiers.org/clinvar/186241 ^@ NM_005732.3(RAD50):c.3466C>T (p.Arg1156Cys) http://identifiers.org/clinvar/187402 ^@ NM_005732.3(RAD50):c.3514A>G (p.Asn1172Asp) http://identifiers.org/clinvar/184956 ^@ NM_005732.3(RAD50):c.3546T>C (p.Tyr1182=) http://identifiers.org/clinvar/184898 ^@ NM_005732.3(RAD50):c.3585G>A (p.Leu1195=) http://identifiers.org/clinvar/184879 ^@ NM_005732.3(RAD50):c.3598C>T (p.Arg1200Ter) http://identifiers.org/clinvar/185730 ^@ NM_005732.3(RAD50):c.3601T>C (p.Cys1201Arg) http://identifiers.org/clinvar/184890 ^@ NM_005732.3(RAD50):c.3621A>G (p.Val1207=) http://identifiers.org/clinvar/186088 ^@ NM_005732.3(RAD50):c.3641G>T (p.Arg1214Leu) http://identifiers.org/clinvar/186259 ^@ NM_005732.3(RAD50):c.3669C>G (p.Leu1223=) http://identifiers.org/clinvar/185221 ^@ NM_005732.3(RAD50):c.3671A>G (p.Asn1224Ser) http://identifiers.org/clinvar/186665 ^@ NM_005732.3(RAD50):c.3767G>A (p.Arg1256His) http://identifiers.org/clinvar/183984 ^@ NM_005732.3(RAD50):c.3769T>G (p.Ser1257Ala) http://identifiers.org/clinvar/185537 ^@ NM_005732.3(RAD50):c.3779delG (p.Arg1260Leufs) http://identifiers.org/clinvar/186780 ^@ NM_005732.3(RAD50):c.3786C>G (p.Phe1262Leu) http://identifiers.org/clinvar/184946 ^@ NM_005732.3(RAD50):c.3835C>T (p.Arg1279Cys) http://identifiers.org/clinvar/185783 ^@ NM_005732.3(RAD50):c.3839C>G (p.Ser1280Cys) http://identifiers.org/clinvar/183705 ^@ NM_005732.3(RAD50):c.3846T>C (p.Tyr1282=) http://identifiers.org/clinvar/187523 ^@ NM_005732.3(RAD50):c.3863G>T (p.Arg1288Met) http://identifiers.org/clinvar/185847 ^@ NM_005732.3(RAD50):c.3929A>G (p.Asn1310Ser) http://identifiers.org/clinvar/184359 ^@ NM_001127500.2(MET):c.146A>G (p.Glu49Gly) http://identifiers.org/clinvar/186144 ^@ NM_001127500.2(MET):c.599C>A (p.Thr200Asn) http://identifiers.org/clinvar/186588 ^@ NM_001127500.2(MET):c.640A>G (p.Ile214Val) http://identifiers.org/clinvar/187100 ^@ NM_001127500.2(MET):c.693C>T (p.Asp231=) http://identifiers.org/clinvar/187365 ^@ NM_001127500.2(MET):c.732T>G (p.Ser244=) http://identifiers.org/clinvar/185606 ^@ NM_001127500.2(MET):c.1081G>T (p.Ala361Ser) http://identifiers.org/clinvar/184639 ^@ NM_001127500.2(MET):c.1263C>T (p.Thr421=) http://identifiers.org/clinvar/186953 ^@ NM_001127500.2(MET):c.1497T>C (p.Asn499=) http://identifiers.org/clinvar/184358 ^@ NM_001127500.2(MET):c.1669A>G (p.Thr557Ala) http://identifiers.org/clinvar/185515 ^@ NM_001127500.2(MET):c.2215C>G (p.Arg739Gly) http://identifiers.org/clinvar/184524 ^@ NM_001127500.2(MET):c.2304A>G (p.Leu768=) http://identifiers.org/clinvar/185464 ^@ NM_001127500.2(MET):c.2332A>G (p.Ile778Val) http://identifiers.org/clinvar/184921 ^@ NM_001127500.2(MET):c.2447T>G (p.Ile816Arg) http://identifiers.org/clinvar/187360 ^@ NM_001127500.2(MET):c.2509G>A (p.Ala837Thr) http://identifiers.org/clinvar/186678 ^@ NM_001127500.2(MET):c.2879C>T (p.Ser960Leu) http://identifiers.org/clinvar/186141 ^@ NM_001127500.2(MET):c.3328G>A (p.Val1110Ile) http://identifiers.org/clinvar/184430 ^@ NM_001127500.2(MET):c.3531C>T (p.Tyr1177=) http://identifiers.org/clinvar/184678 ^@ NM_001127500.2(MET):c.3738C>T (p.Asp1246=) http://identifiers.org/clinvar/184563 ^@ NM_001127500.2(MET):c.3852+5T>C http://identifiers.org/clinvar/185828 ^@ NM_000535.6(PMS2):c.*3G>A http://identifiers.org/clinvar/187618 ^@ NM_000535.6(PMS2):c.*2C>T http://identifiers.org/clinvar/184059 ^@ NM_000535.6(PMS2):c.2559C>T (p.Ile853=) http://identifiers.org/clinvar/184993 ^@ NM_000535.6(PMS2):c.2543C>T (p.Pro848Leu) http://identifiers.org/clinvar/183718 ^@ NM_000535.6(PMS2):c.2506G>T (p.Glu836Ter) http://identifiers.org/clinvar/186908 ^@ NM_000535.6(PMS2):c.2457G>T (p.Gly819=) http://identifiers.org/clinvar/186346 ^@ NM_000535.6(PMS2):c.2453T>C (p.Ile818Thr) http://identifiers.org/clinvar/184485 ^@ NM_000535.6(PMS2):c.2445G>A (p.Ser815=) http://identifiers.org/clinvar/186626 ^@ NM_000535.6(PMS2):c.2418G>A (p.Met806Ile) http://identifiers.org/clinvar/187578 ^@ NM_000535.6(PMS2):c.2384G>A (p.Gly795Glu) http://identifiers.org/clinvar/184746 ^@ NM_000535.6(PMS2):c.2358G>C (p.Leu786=) http://identifiers.org/clinvar/185820 ^@ NM_000535.6(PMS2):c.2347G>A (p.Val783Ile) http://identifiers.org/clinvar/185879 ^@ NM_000535.6(PMS2):c.2343G>A (p.Gln781=) http://identifiers.org/clinvar/184401 ^@ NM_000535.6(PMS2):c.2289A>G (p.Glu763=) http://identifiers.org/clinvar/185928 ^@ NM_000535.6(PMS2):c.2247T>A (p.Asn749Lys) http://identifiers.org/clinvar/186183 ^@ NM_000535.6(PMS2):c.2226T>C (p.Asn742=) http://identifiers.org/clinvar/185475 ^@ NM_000535.6(PMS2):c.2179C>G (p.Gln727Glu) http://identifiers.org/clinvar/185339 ^@ NM_000535.6(PMS2):c.2174C>T (p.Ala725Val) http://identifiers.org/clinvar/183894 ^@ NM_000535.6(PMS2):c.2160G>A (p.Gly720=) http://identifiers.org/clinvar/183755 ^@ NM_000535.6(PMS2):c.2156delA (p.Gln719Argfs) http://identifiers.org/clinvar/186681 ^@ NM_000535.6(PMS2):c.2148C>T (p.Thr716=) http://identifiers.org/clinvar/187369 ^@ NM_000535.6(PMS2):c.2112C>T (p.Asp704=) http://identifiers.org/clinvar/186614 ^@ NM_000535.6(PMS2):c.2109G>A (p.Thr703=) http://identifiers.org/clinvar/185559 ^@ NM_000535.6(PMS2):c.2106C>T (p.Ala702=) http://identifiers.org/clinvar/184866 ^@ NM_000535.6(PMS2):c.2070A>T (p.Lys690Asn) http://identifiers.org/clinvar/185215 ^@ NM_000535.6(PMS2):c.2055A>G (p.Gly685=) http://identifiers.org/clinvar/184622 ^@ NM_000535.6(PMS2):c.2049C>T (p.Asn683=) http://identifiers.org/clinvar/186068 ^@ NM_000535.6(PMS2):c.2047A>T (p.Asn683Tyr) http://identifiers.org/clinvar/186882 ^@ NM_000535.6(PMS2):c.1995A>G (p.Arg665=) http://identifiers.org/clinvar/185743 ^@ NM_000535.6(PMS2):c.1981G>T (p.Glu661Ter) http://identifiers.org/clinvar/184644 ^@ NM_000535.6(PMS2):c.1980C>T (p.Ala660=) http://identifiers.org/clinvar/186625 ^@ NM_000535.6(PMS2):c.1975G>A (p.Ala659Thr) http://identifiers.org/clinvar/186287 ^@ NM_000535.6(PMS2):c.1956T>A (p.Ile652=) http://identifiers.org/clinvar/187540 ^@ NM_000535.6(PMS2):c.1954A>T (p.Ile652Phe) http://identifiers.org/clinvar/183780 ^@ NM_000535.6(PMS2):c.1944T>C (p.Phe648=) http://identifiers.org/clinvar/184851 ^@ NM_000535.6(PMS2):c.1935C>T (p.Tyr645=) http://identifiers.org/clinvar/186598 ^@ NM_000535.6(PMS2):c.1934A>G (p.Tyr645Cys) http://identifiers.org/clinvar/186985 ^@ NM_000535.6(PMS2):c.1929G>T (p.Gln643His) http://identifiers.org/clinvar/186658 ^@ NM_000535.6(PMS2):c.1877C>A (p.Ala626Asp) http://identifiers.org/clinvar/186596 ^@ NM_000535.6(PMS2):c.1874delT (p.Leu625Terfs) http://identifiers.org/clinvar/187737 ^@ NM_000535.6(PMS2):c.1863T>C (p.Ser621=) http://identifiers.org/clinvar/187190 ^@ NM_000535.6(PMS2):c.1732C>A (p.Arg578Ser) http://identifiers.org/clinvar/185184 ^@ NM_000535.6(PMS2):c.1729A>G (p.Lys577Glu) http://identifiers.org/clinvar/183997 ^@ NM_000535.6(PMS2):c.1717A>T (p.Thr573Ser) http://identifiers.org/clinvar/187471 ^@ NM_000535.6(PMS2):c.1715C>T (p.Ala572Val) http://identifiers.org/clinvar/186044 ^@ NM_000535.6(PMS2):c.1714G>A (p.Ala572Thr) http://identifiers.org/clinvar/185029 ^@ NM_000535.6(PMS2):c.1705A>G (p.Thr569Ala) http://identifiers.org/clinvar/186338 ^@ NM_000535.6(PMS2):c.1693T>G (p.Leu565Val) http://identifiers.org/clinvar/186134 ^@ NM_000535.6(PMS2):c.1673C>T (p.Thr558Ile) http://identifiers.org/clinvar/186049 ^@ NM_000535.6(PMS2):c.1666G>C (p.Glu556Gln) http://identifiers.org/clinvar/185030 ^@ NM_000535.6(PMS2):c.1656T>C (p.His552=) http://identifiers.org/clinvar/184703 ^@ NM_000535.6(PMS2):c.1644T>C (p.Asp548=) http://identifiers.org/clinvar/187057 ^@ NM_000535.6(PMS2):c.1632C>A (p.Asp544Glu) http://identifiers.org/clinvar/184497 ^@ NM_000535.6(PMS2):c.1629C>T (p.Asp543=) http://identifiers.org/clinvar/183892 ^@ NM_000535.6(PMS2):c.1617G>A (p.Ala539=) http://identifiers.org/clinvar/184812 ^@ NM_000535.6(PMS2):c.1587G>A (p.Ser529=) http://identifiers.org/clinvar/187056 ^@ NM_000535.6(PMS2):c.1577A>G (p.Asp526Gly) http://identifiers.org/clinvar/186139 ^@ NM_000535.6(PMS2):c.1576G>T (p.Asp526Tyr) http://identifiers.org/clinvar/185185 ^@ NM_000535.6(PMS2):c.1559C>T (p.Ala520Val) http://identifiers.org/clinvar/185560 ^@ NM_000535.6(PMS2):c.1549A>T (p.Ser517Cys) http://identifiers.org/clinvar/186435 ^@ NM_000535.6(PMS2):c.1539T>C (p.Ser513=) http://identifiers.org/clinvar/186001 ^@ NM_000535.6(PMS2):c.1533G>A (p.Thr511=) http://identifiers.org/clinvar/186340 ^@ NM_000535.6(PMS2):c.1519A>G (p.Ser507Gly) http://identifiers.org/clinvar/187541 ^@ NM_000535.6(PMS2):c.1500C>T (p.Ser500=) http://identifiers.org/clinvar/186599 ^@ NM_000535.6(PMS2):c.1470G>A (p.Val490=) http://identifiers.org/clinvar/186053 ^@ NM_000535.6(PMS2):c.1455G>A (p.Thr485=) http://identifiers.org/clinvar/187150 ^@ NM_000535.6(PMS2):c.1444A>G (p.Ser482Gly) http://identifiers.org/clinvar/187192 ^@ NM_000535.6(PMS2):c.1437C>T (p.His479=) http://identifiers.org/clinvar/186428 ^@ NM_000535.6(PMS2):c.1432A>G (p.Ser478Gly) http://identifiers.org/clinvar/187042 ^@ NM_000535.6(PMS2):c.1417G>A (p.Glu473Lys) http://identifiers.org/clinvar/187043 ^@ NM_000535.6(PMS2):c.1411C>T (p.Gln471Ter) http://identifiers.org/clinvar/186045 ^@ NM_000535.6(PMS2):c.1394A>G (p.Lys465Arg) http://identifiers.org/clinvar/187743 ^@ NM_000535.6(PMS2):c.1386C>T (p.Ile462=) http://identifiers.org/clinvar/185006 ^@ NM_000535.6(PMS2):c.1372A>C (p.Thr458Pro) http://identifiers.org/clinvar/187347 ^@ NM_000535.6(PMS2):c.1364C>T (p.Ser455Phe) http://identifiers.org/clinvar/186430 ^@ NM_000535.6(PMS2):c.1356T>C (p.Gly452=) http://identifiers.org/clinvar/185217 ^@ NM_000535.6(PMS2):c.1344A>T (p.Gly448=) http://identifiers.org/clinvar/187470 ^@ NM_000535.6(PMS2):c.1342G>C (p.Gly448Arg) http://identifiers.org/clinvar/186551 ^@ NM_000535.6(PMS2):c.1338T>C (p.Pro446=) http://identifiers.org/clinvar/185547 ^@ NM_000535.6(PMS2):c.1309C>T (p.Pro437Ser) http://identifiers.org/clinvar/185267 ^@ NM_000535.6(PMS2):c.1303C>T (p.His435Tyr) http://identifiers.org/clinvar/185424 ^@ NM_000535.6(PMS2):c.1280G>A (p.Arg427His) http://identifiers.org/clinvar/186233 ^@ NM_000535.6(PMS2):c.1268C>T (p.Ala423Val) http://identifiers.org/clinvar/184994 ^@ NM_000535.6(PMS2):c.1268C>G (p.Ala423Gly) http://identifiers.org/clinvar/183779 ^@ NM_000535.6(PMS2):c.1266G>A (p.Glu422=) http://identifiers.org/clinvar/187191 ^@ NM_000535.6(PMS2):c.1242C>T (p.Asp414=) http://identifiers.org/clinvar/186339 ^@ NM_000535.6(PMS2):c.1231_1232delGAinsTT (p.Glu411Leu) http://identifiers.org/clinvar/186504 ^@ NM_000535.6(PMS2):c.1209C>T (p.Ser403=) http://identifiers.org/clinvar/184060 ^@ NM_000535.6(PMS2):c.1197G>A (p.Lys399=) http://identifiers.org/clinvar/186114 ^@ NM_000535.6(PMS2):c.1187T>C (p.Met396Thr) http://identifiers.org/clinvar/185100 ^@ NM_000535.6(PMS2):c.1170G>A (p.Ala390=) http://identifiers.org/clinvar/186188 ^@ NM_000535.6(PMS2):c.1080A>G (p.Ile360Met) http://identifiers.org/clinvar/185416 ^@ NM_000535.6(PMS2):c.1026A>C (p.Gln342His) http://identifiers.org/clinvar/187489 ^@ NM_000535.6(PMS2):c.1004A>T (p.Asn335Ile) http://identifiers.org/clinvar/184092 ^@ NM_000535.6(PMS2):c.944G>A (p.Arg315Gln) http://identifiers.org/clinvar/185926 ^@ NM_000535.6(PMS2):c.934A>G (p.Met312Val) http://identifiers.org/clinvar/185925 ^@ NM_000535.6(PMS2):c.924G>C (p.Glu308Asp) http://identifiers.org/clinvar/185028 ^@ NM_000535.6(PMS2):c.917T>C (p.Val306Ala) http://identifiers.org/clinvar/187323 ^@ NM_000535.6(PMS2):c.915C>G (p.Leu305=) http://identifiers.org/clinvar/184682 ^@ NM_000535.6(PMS2):c.885G>A (p.Arg295=) http://identifiers.org/clinvar/183860 ^@ NM_000535.6(PMS2):c.857_864delACAGACAG (p.Asp286Valfs) http://identifiers.org/clinvar/185282 ^@ NM_000535.6(PMS2):c.831G>A (p.Thr277=) http://identifiers.org/clinvar/183732 ^@ NM_000535.6(PMS2):c.809C>G (p.Ser270Ter) http://identifiers.org/clinvar/187306 ^@ NM_000535.6(PMS2):c.784G>A (p.Ala262Thr) http://identifiers.org/clinvar/183710 ^@ NM_000535.6(PMS2):c.780C>T (p.Ser260=) http://identifiers.org/clinvar/183716 ^@ NM_000535.6(PMS2):c.765C>A (p.Tyr255Ter) http://identifiers.org/clinvar/186807 ^@ NM_000535.6(PMS2):c.750C>T (p.Ser250=) http://identifiers.org/clinvar/186505 ^@ NM_000535.6(PMS2):c.735G>T (p.Leu245=) http://identifiers.org/clinvar/186234 ^@ NM_000535.6(PMS2):c.706-2A>C http://identifiers.org/clinvar/184507 ^@ NM_000535.6(PMS2):c.687T>C (p.Ser229=) http://identifiers.org/clinvar/184464 ^@ NM_000535.6(PMS2):c.681C>A (p.Ile227=) http://identifiers.org/clinvar/187684 ^@ NM_000535.6(PMS2):c.619G>A (p.Gly207Arg) http://identifiers.org/clinvar/186883 ^@ NM_000535.6(PMS2):c.608C>G (p.Thr203Ser) http://identifiers.org/clinvar/187514 ^@ NM_000535.6(PMS2):c.595C>T (p.Arg199Cys) http://identifiers.org/clinvar/185940 ^@ NM_000535.6(PMS2):c.502G>A (p.Val168Met) http://identifiers.org/clinvar/184621 ^@ NM_000535.6(PMS2):c.477G>A (p.Val159=) http://identifiers.org/clinvar/183774 ^@ NM_000535.6(PMS2):c.396A>G (p.Gly132=) http://identifiers.org/clinvar/187459 ^@ NM_000535.6(PMS2):c.378C>T (p.His126=) http://identifiers.org/clinvar/185323 ^@ NM_000535.6(PMS2):c.364A>C (p.Ile122Leu) http://identifiers.org/clinvar/186067 ^@ NM_000535.6(PMS2):c.354C>T (p.Ser118=) http://identifiers.org/clinvar/187726 ^@ NM_000535.6(PMS2):c.354-1G>A http://identifiers.org/clinvar/185340 ^@ NM_000535.6(PMS2):c.354-2A>G http://identifiers.org/clinvar/184628 ^@ NM_000535.6(PMS2):c.348A>C (p.Ala116=) http://identifiers.org/clinvar/185927 ^@ NM_000535.6(PMS2):c.322G>C (p.Gly108Arg) http://identifiers.org/clinvar/186285 ^@ NM_000535.6(PMS2):c.309T>G (p.Thr103=) http://identifiers.org/clinvar/186187 ^@ NM_000535.6(PMS2):c.299A>C (p.Gln100Pro) http://identifiers.org/clinvar/186286 ^@ NM_000535.6(PMS2):c.296C>T (p.Thr99Ile) http://identifiers.org/clinvar/183893 ^@ NM_000535.6(PMS2):c.251-2A>T http://identifiers.org/clinvar/185939 ^@ NM_000535.6(PMS2):c.197T>C (p.Ile66Thr) http://identifiers.org/clinvar/186531 ^@ NM_000535.6(PMS2):c.191A>G (p.Asp64Gly) http://identifiers.org/clinvar/186597 ^@ NM_000535.6(PMS2):c.189G>A (p.Val63=) http://identifiers.org/clinvar/187572 ^@ NM_000535.6(PMS2):c.178G>A (p.Asp60Asn) http://identifiers.org/clinvar/186061 ^@ NM_000535.6(PMS2):c.164-1G>C http://identifiers.org/clinvar/186832 ^@ NM_000535.6(PMS2):c.146C>G (p.Ala49Gly) http://identifiers.org/clinvar/186069 ^@ NM_000535.6(PMS2):c.130G>C (p.Glu44Gln) http://identifiers.org/clinvar/185895 ^@ NM_000535.6(PMS2):c.118A>G (p.Lys40Glu) http://identifiers.org/clinvar/185546 ^@ NM_000535.6(PMS2):c.114G>A (p.Ala38=) http://identifiers.org/clinvar/187605 ^@ NM_000535.6(PMS2):c.113C>T (p.Ala38Val) http://identifiers.org/clinvar/186945 ^@ NM_000535.6(PMS2):c.101G>T (p.Ser34Ile) http://identifiers.org/clinvar/187477 ^@ NM_000535.6(PMS2):c.91G>T (p.Val31Leu) http://identifiers.org/clinvar/185474 ^@ NM_000535.6(PMS2):c.89A>G (p.Gln30Arg) http://identifiers.org/clinvar/187134 ^@ NM_000535.6(PMS2):c.71A>C (p.His24Pro) http://identifiers.org/clinvar/183773 ^@ NM_000535.6(PMS2):c.51T>C (p.Pro17=) http://identifiers.org/clinvar/185695 ^@ NM_000535.6(PMS2):c.25A>G (p.Thr9Ala) http://identifiers.org/clinvar/186903 ^@ NM_000535.6(PMS2):c.-4A>G http://identifiers.org/clinvar/185558 ^@ NM_000535.6(PMS2):c.-5C>A http://identifiers.org/clinvar/183886 ^@ NM_002485.4(NBN):c.2247T>C (p.Tyr749=) http://identifiers.org/clinvar/185026 ^@ NM_002485.4(NBN):c.2234+2T>G http://identifiers.org/clinvar/186646 ^@ NM_002485.4(NBN):c.2190A>G (p.Gln730=) http://identifiers.org/clinvar/186173 ^@ NM_002485.4(NBN):c.2163G>A (p.Glu721=) http://identifiers.org/clinvar/184232 ^@ NM_002485.4(NBN):c.2139T>C (p.Ala713=) http://identifiers.org/clinvar/186356 ^@ NM_002485.4(NBN):c.2134C>A (p.His712Asn) http://identifiers.org/clinvar/185152 ^@ NM_002485.4(NBN):c.2071-1G>C http://identifiers.org/clinvar/186791 ^@ NM_002485.4(NBN):c.2070+2T>G http://identifiers.org/clinvar/187686 ^@ NM_002485.4(NBN):c.2056A>T (p.Lys686Ter) http://identifiers.org/clinvar/183696 ^@ NM_002485.4(NBN):c.2016A>G (p.Pro672=) http://identifiers.org/clinvar/183863 ^@ NM_002485.4(NBN):c.1989G>A (p.Val663=) http://identifiers.org/clinvar/184121 ^@ NM_002485.4(NBN):c.1986G>A (p.Leu662=) http://identifiers.org/clinvar/187411 ^@ NM_002485.4(NBN):c.1919A>G (p.Asn640Ser) http://identifiers.org/clinvar/185635 ^@ NM_002485.4(NBN):c.1913C>A (p.Ser638Tyr) http://identifiers.org/clinvar/186796 ^@ NM_002485.4(NBN):c.1816G>A (p.Glu606Lys) http://identifiers.org/clinvar/185174 ^@ NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) http://identifiers.org/clinvar/185955 ^@ NM_002485.4(NBN):c.1756G>C (p.Asp586His) http://identifiers.org/clinvar/184862 ^@ NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) http://identifiers.org/clinvar/183810 ^@ NM_002485.4(NBN):c.1629A>G (p.Glu543=) http://identifiers.org/clinvar/186736 ^@ NM_002485.4(NBN):c.1483_1484delCCinsA (p.Pro495Metfs) http://identifiers.org/clinvar/184816 ^@ NM_002485.4(NBN):c.1465C>G (p.Leu489Val) http://identifiers.org/clinvar/184719 ^@ NM_002485.4(NBN):c.1455G>A (p.Thr485=) http://identifiers.org/clinvar/184371 ^@ NM_002485.4(NBN):c.1443A>G (p.Ala481=) http://identifiers.org/clinvar/185245 ^@ NM_002485.4(NBN):c.1436A>G (p.Lys479Arg) http://identifiers.org/clinvar/187081 ^@ NM_002485.4(NBN):c.1405G>A (p.Asp469Asn) http://identifiers.org/clinvar/186671 ^@ NM_002485.4(NBN):c.1313G>T (p.Ser438Ile) http://identifiers.org/clinvar/185019 ^@ NM_002485.4(NBN):c.1301C>T (p.Thr434Ile) http://identifiers.org/clinvar/187536 ^@ NM_002485.4(NBN):c.1301C>A (p.Thr434Asn) http://identifiers.org/clinvar/185597 ^@ NM_002485.4(NBN):c.1282A>G (p.Asn428Asp) http://identifiers.org/clinvar/185430 ^@ NM_002485.4(NBN):c.1248G>T (p.Met416Ile) http://identifiers.org/clinvar/187410 ^@ NM_002485.4(NBN):c.1204A>G (p.Thr402Ala) http://identifiers.org/clinvar/183701 ^@ NM_002485.4(NBN):c.1197T>C (p.Asp399=) http://identifiers.org/clinvar/186274 ^@ NM_002485.4(NBN):c.1173A>G (p.Gln391=) http://identifiers.org/clinvar/186477 ^@ NM_002485.4(NBN):c.1008_1010dupAAC (p.Thr337_Pro338insThr) http://identifiers.org/clinvar/184687 ^@ NM_002485.4(NBN):c.1008A>T (p.Thr336=) http://identifiers.org/clinvar/184004 ^@ NM_002485.4(NBN):c.966C>T (p.Tyr322=) http://identifiers.org/clinvar/186328 ^@ NM_002485.4(NBN):c.936G>A (p.Leu312=) http://identifiers.org/clinvar/183861 ^@ NM_002485.4(NBN):c.930T>A (p.Ile310=) http://identifiers.org/clinvar/187162 ^@ NM_002485.4(NBN):c.880A>T (p.Met294Leu) http://identifiers.org/clinvar/186422 ^@ NM_002485.4(NBN):c.873G>A (p.Gln291=) http://identifiers.org/clinvar/185976 ^@ NM_002485.4(NBN):c.845T>C (p.Ile282Thr) http://identifiers.org/clinvar/185618 ^@ NM_002485.4(NBN):c.820G>A (p.Gly274Arg) http://identifiers.org/clinvar/185833 ^@ NM_002485.4(NBN):c.808_809delGT (p.Val270Cysfs) http://identifiers.org/clinvar/183781 ^@ NM_002485.4(NBN):c.804G>A (p.Thr268=) http://identifiers.org/clinvar/185571 ^@ NM_002485.4(NBN):c.786C>A (p.Phe262Leu) http://identifiers.org/clinvar/186988 ^@ NM_002485.4(NBN):c.773A>G (p.Glu258Gly) http://identifiers.org/clinvar/186830 ^@ NM_002485.4(NBN):c.727G>T (p.Val243Phe) http://identifiers.org/clinvar/183990 ^@ NM_002485.4(NBN):c.720C>T (p.Ser240=) http://identifiers.org/clinvar/186350 ^@ NM_002485.4(NBN):c.683T>G (p.Ile228Arg) http://identifiers.org/clinvar/185147 ^@ NM_002485.4(NBN):c.663C>T (p.Ile221=) http://identifiers.org/clinvar/185527 ^@ NM_002485.4(NBN):c.653G>T (p.Arg218Ile) http://identifiers.org/clinvar/185038 ^@ NM_002485.4(NBN):c.648G>A (p.Gln216=) http://identifiers.org/clinvar/186781 ^@ NM_002485.4(NBN):c.614T>C (p.Ile205Thr) http://identifiers.org/clinvar/186444 ^@ NM_002485.4(NBN):c.588T>C (p.Phe196=) http://identifiers.org/clinvar/187348 ^@ NM_002485.4(NBN):c.585-1_585delGTinsC http://identifiers.org/clinvar/186682 ^@ NM_002485.4(NBN):c.506G>A (p.Arg169His) http://identifiers.org/clinvar/184055 ^@ NM_002485.4(NBN):c.490G>T (p.Ala164Ser) http://identifiers.org/clinvar/186805 ^@ NM_002485.4(NBN):c.483A>G (p.Thr161=) http://identifiers.org/clinvar/187563 ^@ NM_002485.4(NBN):c.480+3A>G http://identifiers.org/clinvar/187661 ^@ NM_002485.4(NBN):c.459A>G (p.Val153=) http://identifiers.org/clinvar/186872 ^@ NM_002485.4(NBN):c.459A>C (p.Val153=) http://identifiers.org/clinvar/184528 ^@ NM_002485.4(NBN):c.426T>C (p.Asn142=) http://identifiers.org/clinvar/186755 ^@ NM_002485.4(NBN):c.420A>G (p.Val140=) http://identifiers.org/clinvar/185980 ^@ NM_002485.4(NBN):c.415A>G (p.Thr139Ala) http://identifiers.org/clinvar/184328 ^@ NM_002485.4(NBN):c.393T>G (p.Ala131=) http://identifiers.org/clinvar/187287 ^@ NM_002485.4(NBN):c.367T>G (p.Ser123Ala) http://identifiers.org/clinvar/187336 ^@ NM_002485.4(NBN):c.364G>A (p.Val122Ile) http://identifiers.org/clinvar/183765 ^@ NM_002485.4(NBN):c.333G>A (p.Glu111=) http://identifiers.org/clinvar/185055 ^@ NM_002485.4(NBN):c.302T>C (p.Val101Ala) http://identifiers.org/clinvar/185392 ^@ NM_002485.4(NBN):c.301G>A (p.Val101Met) http://identifiers.org/clinvar/184749 ^@ NM_002485.4(NBN):c.266G>C (p.Arg89Pro) http://identifiers.org/clinvar/187236 ^@ NM_002485.4(NBN):c.260T>C (p.Phe87Ser) http://identifiers.org/clinvar/187687 ^@ NM_002485.4(NBN):c.243A>G (p.Glu81=) http://identifiers.org/clinvar/185324 ^@ NM_002485.4(NBN):c.242A>G (p.Glu81Gly) http://identifiers.org/clinvar/186176 ^@ NM_002485.4(NBN):c.235A>G (p.Asn79Asp) http://identifiers.org/clinvar/185838 ^@ NM_002485.4(NBN):c.210_211delTA (p.Asp70Glufs) http://identifiers.org/clinvar/184932 ^@ NM_002485.4(NBN):c.204A>T (p.Leu68Phe) http://identifiers.org/clinvar/186540 ^@ NM_002485.4(NBN):c.181_182delGA (p.Asp61Terfs) http://identifiers.org/clinvar/184454 ^@ NM_002485.4(NBN):c.120G>T (p.Ser40=) http://identifiers.org/clinvar/183697 ^@ NM_002485.4(NBN):c.102G>A (p.Leu34=) http://identifiers.org/clinvar/186314 ^@ NM_002485.4(NBN):c.37+1G>A http://identifiers.org/clinvar/186794 ^@ NM_002485.4(NBN):c.35G>A (p.Gly12Glu) http://identifiers.org/clinvar/184307 ^@ NM_002485.4(NBN):c.18C>T (p.Pro6=) http://identifiers.org/clinvar/184529 ^@ NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) http://identifiers.org/clinvar/184790 ^@ NM_000368.4(TSC1):c.3408T>A (p.Asp1136Glu) http://identifiers.org/clinvar/184208 ^@ NM_000368.4(TSC1):c.3210G>A (p.Ala1070=) http://identifiers.org/clinvar/187656 ^@ NM_000368.4(TSC1):c.3048T>C (p.Gly1016=) http://identifiers.org/clinvar/186511 ^@ NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) http://identifiers.org/clinvar/184417 ^@ NM_000368.4(TSC1):c.2922C>T (p.Leu974=) http://identifiers.org/clinvar/186711 ^@ NM_000368.4(TSC1):c.2577C>T (p.Asn859=) http://identifiers.org/clinvar/186836 ^@ NM_000368.4(TSC1):c.2514T>C (p.Ser838=) http://identifiers.org/clinvar/185435 ^@ NM_000368.4(TSC1):c.2312T>C (p.Met771Thr) http://identifiers.org/clinvar/186515 ^@ NM_000368.4(TSC1):c.2236G>T (p.Asp746Tyr) http://identifiers.org/clinvar/185109 ^@ NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) http://identifiers.org/clinvar/184442 ^@ NM_000368.4(TSC1):c.2057A>G (p.Asp686Gly) http://identifiers.org/clinvar/187525 ^@ NM_000368.4(TSC1):c.1751G>C (p.Ser584Thr) http://identifiers.org/clinvar/186320 ^@ NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) http://identifiers.org/clinvar/184443 ^@ NM_000368.4(TSC1):c.1580A>G (p.Gln527Arg) http://identifiers.org/clinvar/187413 ^@ NM_000368.4(TSC1):c.1239G>A (p.Gln413=) http://identifiers.org/clinvar/186282 ^@ NM_000368.4(TSC1):c.574T>C (p.Tyr192His) http://identifiers.org/clinvar/184670 ^@ NM_000368.4(TSC1):c.379G>A (p.Val127Ile) http://identifiers.org/clinvar/186839 ^@ NM_000368.4(TSC1):c.21C>T (p.Val7=) http://identifiers.org/clinvar/184564 ^@ NM_000077.4(CDKN2A):c.425A>G (p.His142Arg) http://identifiers.org/clinvar/184241 ^@ NM_000077.4(CDKN2A):c.384G>A (p.Arg128=) http://identifiers.org/clinvar/183759 ^@ NM_000077.4(CDKN2A):c.335_337dupGTC (p.Arg112_Leu113insArg) http://identifiers.org/clinvar/187515 ^@ NM_000077.4(CDKN2A):c.261G>A (p.Arg87=) http://identifiers.org/clinvar/185936 ^@ NM_000077.4(CDKN2A):c.209C>G (p.Pro70Arg) http://identifiers.org/clinvar/186615 ^@ NM_000077.4(CDKN2A):c.206A>G (p.Glu69Gly) http://identifiers.org/clinvar/186731 ^@ NM_058195.3(CDKN2A):c.229G>C (p.Ala77Pro) http://identifiers.org/clinvar/186239 ^@ NM_000077.4(CDKN2A):c.179C>A (p.Ala60Glu) http://identifiers.org/clinvar/187272 ^@ NM_000077.4(CDKN2A):c.170C>G (p.Ala57Gly) http://identifiers.org/clinvar/187713 ^@ NM_000077.4(CDKN2A):c.149A>C (p.Gln50Pro) http://identifiers.org/clinvar/184680 ^@ NM_000077.4(CDKN2A):c.147C>A (p.Ile49=) http://identifiers.org/clinvar/185104 ^@ NM_000077.4(CDKN2A):c.39T>G (p.Ala13=) http://identifiers.org/clinvar/187508 ^@ NM_000077.4(CDKN2A):c.38C>T (p.Ala13Val) http://identifiers.org/clinvar/187095 ^@ NM_058195.3(CDKN2A):c.136G>A (p.Val46Met) http://identifiers.org/clinvar/184814 ^@ NM_058195.3(CDKN2A):c.90C>T (p.Leu30=) http://identifiers.org/clinvar/185912 ^@ NM_058195.3(CDKN2A):c.48C>T (p.Gly16=) http://identifiers.org/clinvar/184368 ^@ NM_020975.4(RET):c.225G>A (p.Thr75=) http://identifiers.org/clinvar/184536 ^@ NM_020975.4(RET):c.604G>A (p.Val202Met) http://identifiers.org/clinvar/186971 ^@ NM_020975.4(RET):c.682G>T (p.Ala228Ser) http://identifiers.org/clinvar/187325 ^@ NM_020975.4(RET):c.699G>A (p.Gln233=) http://identifiers.org/clinvar/184139 ^@ NM_020975.4(RET):c.957C>A (p.Leu319=) http://identifiers.org/clinvar/187498 ^@ NM_020975.4(RET):c.1051G>A (p.Val351Ile) http://identifiers.org/clinvar/184610 ^@ NM_020975.4(RET):c.1197G>A (p.Pro399=) http://identifiers.org/clinvar/187665 ^@ NM_020975.4(RET):c.1352C>T (p.Thr451Met) http://identifiers.org/clinvar/184923 ^@ NM_020975.4(RET):c.1405G>C (p.Asp469His) http://identifiers.org/clinvar/185968 ^@ NM_020975.4(RET):c.1765A>C (p.Ser589Arg) http://identifiers.org/clinvar/186071 ^@ NM_020975.4(RET):c.1884A>T (p.Pro628=) http://identifiers.org/clinvar/187701 ^@ NM_020975.4(RET):c.2225C>T (p.Thr742Met) http://identifiers.org/clinvar/184140 ^@ NM_020975.4(RET):c.2523G>T (p.Pro841=) http://identifiers.org/clinvar/184537 ^@ NM_020975.4(RET):c.3138C>A (p.Ala1046=) http://identifiers.org/clinvar/183744 ^@ NM_020975.4(RET):c.3253A>G (p.Thr1085Ala) http://identifiers.org/clinvar/186704 ^@ NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/186157 ^@ NM_004329.2(BMPR1A):c.30A>G (p.Leu10=) http://identifiers.org/clinvar/186702 ^@ NM_004329.2(BMPR1A):c.124A>G (p.Lys42Glu) http://identifiers.org/clinvar/186884 ^@ NM_004329.2(BMPR1A):c.140G>A (p.Gly47Glu) http://identifiers.org/clinvar/183711 ^@ NM_004329.2(BMPR1A):c.176delT (p.Leu59Terfs) http://identifiers.org/clinvar/184498 ^@ NM_004329.2(BMPR1A):c.216dupT (p.Asn73Terfs) http://identifiers.org/clinvar/184920 ^@ NM_004329.2(BMPR1A):c.227G>A (p.Cys76Tyr) http://identifiers.org/clinvar/186487 ^@ NM_004329.2(BMPR1A):c.383A>G (p.Asn128Ser) http://identifiers.org/clinvar/185387 ^@ NM_004329.2(BMPR1A):c.393C>G (p.Asn131Lys) http://identifiers.org/clinvar/184822 ^@ NM_004329.2(BMPR1A):c.420delT (p.Val141Leufs) http://identifiers.org/clinvar/183708 ^@ NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) http://identifiers.org/clinvar/187206 ^@ NM_004329.2(BMPR1A):c.499A>T (p.Met167Leu) http://identifiers.org/clinvar/186036 ^@ NM_004329.2(BMPR1A):c.504C>G (p.Ile168Met) http://identifiers.org/clinvar/183788 ^@ NM_004329.2(BMPR1A):c.510C>T (p.Phe170=) http://identifiers.org/clinvar/187666 ^@ NM_004329.2(BMPR1A):c.524G>A (p.Cys175Tyr) http://identifiers.org/clinvar/184370 ^@ NM_004329.2(BMPR1A):c.682C>A (p.Arg228=) http://identifiers.org/clinvar/183851 ^@ NM_004329.2(BMPR1A):c.765C>T (p.Gly255=) http://identifiers.org/clinvar/184634 ^@ NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) http://identifiers.org/clinvar/184817 ^@ NM_004329.2(BMPR1A):c.990C>T (p.Ala330=) http://identifiers.org/clinvar/186278 ^@ NM_004329.2(BMPR1A):c.993G>A (p.Leu331=) http://identifiers.org/clinvar/183728 ^@ NM_004329.2(BMPR1A):c.1081C>T (p.Arg361Ter) http://identifiers.org/clinvar/187301 ^@ NM_004329.2(BMPR1A):c.1146C>A (p.Gly382=) http://identifiers.org/clinvar/184210 ^@ NM_004329.2(BMPR1A):c.1173A>T (p.Thr391=) http://identifiers.org/clinvar/185792 ^@ NM_004329.2(BMPR1A):c.1191C>G (p.Pro397=) http://identifiers.org/clinvar/185988 ^@ NM_004329.2(BMPR1A):c.1231G>A (p.Glu411Lys) http://identifiers.org/clinvar/186273 ^@ NM_004329.2(BMPR1A):c.1266C>T (p.Phe422=) http://identifiers.org/clinvar/185192 ^@ NM_004329.2(BMPR1A):c.1379T>C (p.Met460Thr) http://identifiers.org/clinvar/183709 ^@ NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) http://identifiers.org/clinvar/183720 ^@ NM_004329.2(BMPR1A):c.1480C>T (p.Arg494Ter) http://identifiers.org/clinvar/186644 ^@ NM_000314.6(PTEN):c.-1235C>T http://identifiers.org/clinvar/186991 ^@ NM_000314.6(PTEN):c.-1216C>T http://identifiers.org/clinvar/187362 ^@ NM_000314.6(PTEN):c.-1154G>A http://identifiers.org/clinvar/187000 ^@ NM_000314.6(PTEN):c.-1145A>C http://identifiers.org/clinvar/185541 ^@ NM_000314.6(PTEN):c.-1079C>T http://identifiers.org/clinvar/183706 ^@ NM_000314.6(PTEN):c.-1027C>A http://identifiers.org/clinvar/185812 ^@ NM_000314.6(PTEN):c.-1002C>A http://identifiers.org/clinvar/185338 ^@ NM_000314.6(PTEN):c.-987C>T http://identifiers.org/clinvar/187184 ^@ NM_000314.6(PTEN):c.-979C>G http://identifiers.org/clinvar/187183 ^@ NM_000314.6(PTEN):c.-934G>C http://identifiers.org/clinvar/187033 ^@ NM_000314.6(PTEN):c.-933G>A http://identifiers.org/clinvar/187364 ^@ NM_000314.6(PTEN):c.-921G>A http://identifiers.org/clinvar/185062 ^@ NM_000314.6(PTEN):c.-837C>T http://identifiers.org/clinvar/185862 ^@ NM_000314.6(PTEN):c.-770G>A http://identifiers.org/clinvar/186219 ^@ NM_000314.6(PTEN):c.42delG (p.Arg15Aspfs) http://identifiers.org/clinvar/184205 ^@ NM_000314.6(PTEN):c.66C>T (p.Asp22=) http://identifiers.org/clinvar/185200 ^@ NM_000314.6(PTEN):c.70G>A (p.Asp24Asn) http://identifiers.org/clinvar/186005 ^@ NM_000314.6(PTEN):c.70G>C (p.Asp24His) http://identifiers.org/clinvar/184505 ^@ NM_000314.6(PTEN):c.75G>A (p.Leu25=) http://identifiers.org/clinvar/184104 ^@ NM_000314.6(PTEN):c.78C>T (p.Thr26=) http://identifiers.org/clinvar/187107 ^@ NM_000314.6(PTEN):c.81_82insCT (p.Ile28Leufs) http://identifiers.org/clinvar/184734 ^@ NM_000314.6(PTEN):c.99T>C (p.Ile33=) http://identifiers.org/clinvar/185863 ^@ NM_000314.6(PTEN):c.105_106delGGinsAC (p.Met35_Gly36delinsIleArg) http://identifiers.org/clinvar/184068 ^@ NM_000314.6(PTEN):c.114T>G (p.Pro38=) http://identifiers.org/clinvar/186369 ^@ NM_000314.6(PTEN):c.131_134dupGCGT (p.Tyr46Argfs) http://identifiers.org/clinvar/186980 ^@ NM_000314.6(PTEN):c.158T>A (p.Val53Glu) http://identifiers.org/clinvar/184020 ^@ NM_000314.6(PTEN):c.159A>G (p.Val53=) http://identifiers.org/clinvar/187590 ^@ NM_000314.6(PTEN):c.165-1G>A http://identifiers.org/clinvar/185713 ^@ NM_000314.6(PTEN):c.170T>G (p.Leu57Trp) http://identifiers.org/clinvar/186386 ^@ NM_000314.6(PTEN):c.204C>T (p.Tyr68=) http://identifiers.org/clinvar/185989 ^@ NM_000314.6(PTEN):c.209+3A>T http://identifiers.org/clinvar/187128 ^@ NM_000314.6(PTEN):c.261A>G (p.Gln87=) http://identifiers.org/clinvar/186427 ^@ NM_000314.6(PTEN):c.304A>C (p.Lys102Gln) http://identifiers.org/clinvar/184413 ^@ NM_000314.6(PTEN):c.321T>C (p.Asp107=) http://identifiers.org/clinvar/185102 ^@ NM_000314.6(PTEN):c.330A>G (p.Gln110=) http://identifiers.org/clinvar/185588 ^@ NM_000314.6(PTEN):c.349A>C (p.Asn117His) http://identifiers.org/clinvar/186161 ^@ NM_000314.6(PTEN):c.364A>G (p.Ile122Val) http://identifiers.org/clinvar/185817 ^@ NM_000314.6(PTEN):c.370T>G (p.Cys124Gly) http://identifiers.org/clinvar/183726 ^@ NM_000314.6(PTEN):c.406T>C (p.Cys136Arg) http://identifiers.org/clinvar/186082 ^@ NM_000314.6(PTEN):c.411A>G (p.Ala137=) http://identifiers.org/clinvar/185276 ^@ NM_000314.6(PTEN):c.428G>A (p.Gly143Asp) http://identifiers.org/clinvar/185952 ^@ NM_000314.6(PTEN):c.456A>G (p.Leu152=) http://identifiers.org/clinvar/186094 ^@ NM_000314.6(PTEN):c.475A>G (p.Arg159Gly) http://identifiers.org/clinvar/186180 ^@ NM_000314.6(PTEN):c.488A>G (p.Lys163Arg) http://identifiers.org/clinvar/187015 ^@ NM_000314.6(PTEN):c.496G>A (p.Val166Ile) http://identifiers.org/clinvar/185195 ^@ NM_000314.6(PTEN):c.518G>C (p.Arg173Pro) http://identifiers.org/clinvar/185014 ^@ NM_000314.6(PTEN):c.522T>C (p.Tyr174=) http://identifiers.org/clinvar/185585 ^@ NM_000314.6(PTEN):c.527A>G (p.Tyr176Cys) http://identifiers.org/clinvar/186153 ^@ NM_000314.6(PTEN):c.540C>G (p.Tyr180Ter) http://identifiers.org/clinvar/186205 ^@ NM_000314.6(PTEN):c.618C>T (p.Phe206=) http://identifiers.org/clinvar/184844 ^@ NM_000314.6(PTEN):c.700C>T (p.Arg234Trp) http://identifiers.org/clinvar/185877 ^@ NM_000314.6(PTEN):c.706dupG (p.Asp236Glyfs) http://identifiers.org/clinvar/184878 ^@ NM_000314.6(PTEN):c.715A>G (p.Met239Val) http://identifiers.org/clinvar/183876 ^@ NM_000314.6(PTEN):c.720C>T (p.Tyr240=) http://identifiers.org/clinvar/186396 ^@ NM_000314.6(PTEN):c.733C>T (p.Gln245Ter) http://identifiers.org/clinvar/184913 ^@ NM_000314.6(PTEN):c.750T>C (p.Cys250=) http://identifiers.org/clinvar/184277 ^@ NM_000314.6(PTEN):c.830C>T (p.Thr277Ile) http://identifiers.org/clinvar/184466 ^@ NM_000314.6(PTEN):c.841C>G (p.Pro281Ala) http://identifiers.org/clinvar/186293 ^@ NM_000314.6(PTEN):c.850G>T (p.Glu284Ter) http://identifiers.org/clinvar/183799 ^@ NM_000314.6(PTEN):c.855A>G (p.Glu285=) http://identifiers.org/clinvar/185480 ^@ NM_000314.6(PTEN):c.886T>C (p.Cys296Arg) http://identifiers.org/clinvar/187657 ^@ NM_000314.6(PTEN):c.892C>T (p.Gln298Ter) http://identifiers.org/clinvar/184295 ^@ NM_000314.6(PTEN):c.900C>T (p.Ile300=) http://identifiers.org/clinvar/187604 ^@ NM_000314.6(PTEN):c.916A>G (p.Ile306Val) http://identifiers.org/clinvar/185517 ^@ NM_000314.6(PTEN):c.919G>C (p.Glu307Gln) http://identifiers.org/clinvar/184506 ^@ NM_000314.6(PTEN):c.923G>A (p.Arg308His) http://identifiers.org/clinvar/185213 ^@ NM_000314.6(PTEN):c.964A>T (p.Lys322Ter) http://identifiers.org/clinvar/184304 ^@ NM_000314.6(PTEN):c.966A>G (p.Lys322=) http://identifiers.org/clinvar/184954 ^@ NM_000314.6(PTEN):c.1008C>T (p.Tyr336=) http://identifiers.org/clinvar/185586 ^@ NM_000314.6(PTEN):c.1018A>G (p.Asn340Asp) http://identifiers.org/clinvar/183722 ^@ NM_000314.6(PTEN):c.1026+1G>A http://identifiers.org/clinvar/186178 ^@ NM_000314.6(PTEN):c.1062G>A (p.Pro354=) http://identifiers.org/clinvar/185298 ^@ NM_000314.6(PTEN):c.1104T>A (p.Asp368Glu) http://identifiers.org/clinvar/186450 ^@ NM_000314.6(PTEN):c.1130A>T (p.Tyr377Phe) http://identifiers.org/clinvar/187673 ^@ NM_000314.6(PTEN):c.1171C>T (p.Pro391Ser) http://identifiers.org/clinvar/185293 ^@ NM_000314.6(PTEN):c.1188G>A (p.Gln396=) http://identifiers.org/clinvar/185739 ^@ NM_000314.6(PTEN):c.1197A>G (p.Gln399=) http://identifiers.org/clinvar/187213 ^@ NM_000051.3(ATM):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/187275 ^@ NM_000051.3(ATM):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/184259 ^@ NM_000051.3(ATM):c.12A>G (p.Val4=) http://identifiers.org/clinvar/185977 ^@ NM_000051.3(ATM):c.37C>T (p.Arg13Cys) http://identifiers.org/clinvar/183841 ^@ NM_000051.3(ATM):c.42A>G (p.Gln14=) http://identifiers.org/clinvar/187693 ^@ NM_000051.3(ATM):c.54T>C (p.Asp18=) http://identifiers.org/clinvar/186439 ^@ NM_000051.3(ATM):c.78A>T (p.Glu26Asp) http://identifiers.org/clinvar/185887 ^@ NM_000051.3(ATM):c.79G>A (p.Val27Ile) http://identifiers.org/clinvar/183805 ^@ NM_000051.3(ATM):c.103C>A (p.Arg35=) http://identifiers.org/clinvar/184988 ^@ NM_000051.3(ATM):c.115A>G (p.Thr39Ala) http://identifiers.org/clinvar/186855 ^@ NM_000051.3(ATM):c.127C>G (p.Leu43Val) http://identifiers.org/clinvar/186471 ^@ NM_000051.3(ATM):c.131A>G (p.Asp44Gly) http://identifiers.org/clinvar/186975 ^@ NM_000051.3(ATM):c.138_141delTTCA (p.His46Glnfs) http://identifiers.org/clinvar/187642 ^@ NM_000051.3(ATM):c.151C>T (p.Gln51Ter) http://identifiers.org/clinvar/184276 ^@ NM_000051.3(ATM):c.180T>G (p.Val60=) http://identifiers.org/clinvar/186585 ^@ NM_000051.3(ATM):c.182T>C (p.Phe61Ser) http://identifiers.org/clinvar/187119 ^@ NM_000051.3(ATM):c.241A>G (p.Asn81Asp) http://identifiers.org/clinvar/183884 ^@ NM_000051.3(ATM):c.276A>G (p.Lys92=) http://identifiers.org/clinvar/186520 ^@ NM_000051.3(ATM):c.290T>C (p.Ile97Thr) http://identifiers.org/clinvar/186467 ^@ NM_000051.3(ATM):c.332-3T>C http://identifiers.org/clinvar/185849 ^@ NM_000051.3(ATM):c.372C>A (p.Ile124=) http://identifiers.org/clinvar/185907 ^@ NM_000051.3(ATM):c.373A>G (p.Met125Val) http://identifiers.org/clinvar/186169 ^@ NM_000051.3(ATM):c.379A>T (p.Thr127Ser) http://identifiers.org/clinvar/187595 ^@ NM_000051.3(ATM):c.394T>C (p.Ser132Pro) http://identifiers.org/clinvar/186081 ^@ NM_000051.3(ATM):c.401G>A (p.Gly134Asp) http://identifiers.org/clinvar/183922 ^@ NM_000051.3(ATM):c.411C>T (p.Tyr137=) http://identifiers.org/clinvar/186033 ^@ NM_000051.3(ATM):c.477A>G (p.Ile159Met) http://identifiers.org/clinvar/185501 ^@ NM_000051.3(ATM):c.478_482delTCTCA (p.Ser160Alafs) http://identifiers.org/clinvar/183797 ^@ NM_000051.3(ATM):c.497-4dupT http://identifiers.org/clinvar/183775 ^@ NM_000051.3(ATM):c.497-4delT http://identifiers.org/clinvar/184009 ^@ NM_000051.3(ATM):c.507T>C (p.Ser169=) http://identifiers.org/clinvar/186214 ^@ NM_000051.3(ATM):c.508G>T (p.Val170Leu) http://identifiers.org/clinvar/186725 ^@ NM_000051.3(ATM):c.510G>A (p.Val170=) http://identifiers.org/clinvar/184787 ^@ NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) http://identifiers.org/clinvar/184674 ^@ NM_000051.3(ATM):c.514T>C (p.Phe172Leu) http://identifiers.org/clinvar/184942 ^@ NM_000051.3(ATM):c.532C>T (p.Pro178Ser) http://identifiers.org/clinvar/186308 ^@ NM_000051.3(ATM):c.566G>C (p.Arg189Thr) http://identifiers.org/clinvar/186862 ^@ NM_000051.3(ATM):c.668A>G (p.Glu223Gly) http://identifiers.org/clinvar/187140 ^@ NM_000051.3(ATM):c.695T>C (p.Ile232Thr) http://identifiers.org/clinvar/186210 ^@ NM_000051.3(ATM):c.712A>G (p.Ile238Val) http://identifiers.org/clinvar/187667 ^@ NM_000051.3(ATM):c.716T>C (p.Phe239Ser) http://identifiers.org/clinvar/185337 ^@ NM_000051.3(ATM):c.728T>C (p.Leu243Ser) http://identifiers.org/clinvar/183707 ^@ NM_000051.3(ATM):c.735C>T (p.Val245=) http://identifiers.org/clinvar/183768 ^@ NM_000051.3(ATM):c.771A>G (p.Glu257=) http://identifiers.org/clinvar/187021 ^@ NM_000051.3(ATM):c.781A>T (p.Thr261Ser) http://identifiers.org/clinvar/185146 ^@ NM_000051.3(ATM):c.858A>G (p.Gln286=) http://identifiers.org/clinvar/186761 ^@ NM_000051.3(ATM):c.901+1G>A http://identifiers.org/clinvar/186593 ^@ NM_000051.3(ATM):c.901+3A>T http://identifiers.org/clinvar/187115 ^@ NM_000051.3(ATM):c.936A>G (p.Leu312=) http://identifiers.org/clinvar/187006 ^@ NM_000051.3(ATM):c.975T>C (p.His325=) http://identifiers.org/clinvar/185277 ^@ NM_000051.3(ATM):c.993G>A (p.Lys331=) http://identifiers.org/clinvar/186470 ^@ NM_000051.3(ATM):c.1065+1G>T http://identifiers.org/clinvar/183806 ^@ NM_000051.3(ATM):c.1104A>G (p.Gln368=) http://identifiers.org/clinvar/186640 ^@ NM_000051.3(ATM):c.1110C>T (p.Tyr370=) http://identifiers.org/clinvar/184435 ^@ NM_000051.3(ATM):c.1119A>T (p.Thr373=) http://identifiers.org/clinvar/187601 ^@ NM_000051.3(ATM):c.1139A>G (p.Tyr380Cys) http://identifiers.org/clinvar/187270 ^@ NM_000051.3(ATM):c.1141A>G (p.Ser381Gly) http://identifiers.org/clinvar/183905 ^@ NM_000051.3(ATM):c.1146C>T (p.Val382=) http://identifiers.org/clinvar/184335 ^@ NM_000051.3(ATM):c.1149T>C (p.Pro383=) http://identifiers.org/clinvar/186092 ^@ NM_000051.3(ATM):c.1159A>C (p.Lys387Gln) http://identifiers.org/clinvar/185680 ^@ NM_000051.3(ATM):c.1161G>A (p.Lys387=) http://identifiers.org/clinvar/183875 ^@ NM_000051.3(ATM):c.1197C>T (p.His399=) http://identifiers.org/clinvar/184526 ^@ NM_000051.3(ATM):c.1212G>A (p.Gln404=) http://identifiers.org/clinvar/187547 ^@ NM_000051.3(ATM):c.1225C>T (p.Leu409Phe) http://identifiers.org/clinvar/186690 ^@ NM_000051.3(ATM):c.1235+4A>G http://identifiers.org/clinvar/183771 ^@ NM_000051.3(ATM):c.1236-3delT http://identifiers.org/clinvar/187355 ^@ NM_000051.3(ATM):c.1242G>T (p.Gln414His) http://identifiers.org/clinvar/186714 ^@ NM_000051.3(ATM):c.1249delA (p.Thr417Profs) http://identifiers.org/clinvar/186145 ^@ NM_000051.3(ATM):c.1261T>C (p.Ser421Pro) http://identifiers.org/clinvar/185031 ^@ NM_000051.3(ATM):c.1271C>A (p.Pro424His) http://identifiers.org/clinvar/185779 ^@ NM_000051.3(ATM):c.1303T>C (p.Leu435=) http://identifiers.org/clinvar/184641 ^@ NM_000051.3(ATM):c.1332C>A (p.Pro444=) http://identifiers.org/clinvar/185437 ^@ NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) http://identifiers.org/clinvar/187385 ^@ NM_000051.3(ATM):c.1359A>G (p.Pro453=) http://identifiers.org/clinvar/183817 ^@ NM_000051.3(ATM):c.1392G>A (p.Leu464=) http://identifiers.org/clinvar/184785 ^@ NM_000051.3(ATM):c.1416A>G (p.Leu472=) http://identifiers.org/clinvar/187204 ^@ NM_000051.3(ATM):c.1424C>G (p.Ser475Ter) http://identifiers.org/clinvar/184049 ^@ NM_000051.3(ATM):c.1428A>G (p.Gln476=) http://identifiers.org/clinvar/186322 ^@ NM_000051.3(ATM):c.1440A>C (p.Leu480Phe) http://identifiers.org/clinvar/185509 ^@ NM_000051.3(ATM):c.1481G>A (p.Gly494Asp) http://identifiers.org/clinvar/185158 ^@ NM_000051.3(ATM):c.1483A>G (p.Ile495Val) http://identifiers.org/clinvar/187442 ^@ NM_000051.3(ATM):c.1503A>G (p.Gln501=) http://identifiers.org/clinvar/186926 ^@ NM_000051.3(ATM):c.1524T>C (p.Leu508=) http://identifiers.org/clinvar/185468 ^@ NM_000051.3(ATM):c.1547T>C (p.Leu516Ser) http://identifiers.org/clinvar/185335 ^@ NM_000051.3(ATM):c.1596C>T (p.Cys532=) http://identifiers.org/clinvar/184054 ^@ NM_000051.3(ATM):c.1629T>G (p.Thr543=) http://identifiers.org/clinvar/185076 ^@ NM_000051.3(ATM):c.1631T>C (p.Leu544Ser) http://identifiers.org/clinvar/187235 ^@ NM_000051.3(ATM):c.1640C>T (p.Thr547Ile) http://identifiers.org/clinvar/185780 ^@ NM_000051.3(ATM):c.1648A>G (p.Ile550Val) http://identifiers.org/clinvar/186202 ^@ NM_000051.3(ATM):c.1670T>C (p.Met557Thr) http://identifiers.org/clinvar/185802 ^@ NM_000051.3(ATM):c.1689G>A (p.Met563Ile) http://identifiers.org/clinvar/186801 ^@ NM_000051.3(ATM):c.1700A>G (p.Asn567Ser) http://identifiers.org/clinvar/184782 ^@ NM_000051.3(ATM):c.1737G>A (p.Trp579Ter) http://identifiers.org/clinvar/184969 ^@ NM_000051.3(ATM):c.1794T>C (p.Ile598=) http://identifiers.org/clinvar/186552 ^@ NM_000051.3(ATM):c.1803-5T>C http://identifiers.org/clinvar/186407 ^@ NM_000051.3(ATM):c.1813C>T (p.His605Tyr) http://identifiers.org/clinvar/187501 ^@ NM_000051.3(ATM):c.1844T>C (p.Leu615Pro) http://identifiers.org/clinvar/185810 ^@ NM_000051.3(ATM):c.1880dupT (p.Gln628Profs) http://identifiers.org/clinvar/187338 ^@ NM_000051.3(ATM):c.1906C>T (p.His636Tyr) http://identifiers.org/clinvar/184448 ^@ NM_000051.3(ATM):c.1926A>G (p.Glu642=) http://identifiers.org/clinvar/185857 ^@ NM_000051.3(ATM):c.1945G>A (p.Glu649Lys) http://identifiers.org/clinvar/186174 ^@ NM_000051.3(ATM):c.1989A>G (p.Leu663=) http://identifiers.org/clinvar/185852 ^@ NM_000051.3(ATM):c.2012T>A (p.Ile671Lys) http://identifiers.org/clinvar/186533 ^@ NM_000051.3(ATM):c.2019G>A (p.Lys673=) http://identifiers.org/clinvar/187600 ^@ NM_000051.3(ATM):c.2028C>T (p.Ser676=) http://identifiers.org/clinvar/186816 ^@ NM_000051.3(ATM):c.2051A>G (p.Gln684Arg) http://identifiers.org/clinvar/184571 ^@ NM_000051.3(ATM):c.2064A>G (p.Glu688=) http://identifiers.org/clinvar/184752 ^@ NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) http://identifiers.org/clinvar/185505 ^@ NM_000051.3(ATM):c.2085G>A (p.Leu695=) http://identifiers.org/clinvar/186167 ^@ NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) http://identifiers.org/clinvar/185607 ^@ NM_000051.3(ATM):c.2117C>T (p.Ser706Leu) http://identifiers.org/clinvar/187534 ^@ NM_000051.3(ATM):c.2129delC (p.Thr710Lysfs) http://identifiers.org/clinvar/185153 ^@ NM_000051.3(ATM):c.2148C>G (p.Val716=) http://identifiers.org/clinvar/185013 ^@ NM_000051.3(ATM):c.2218G>A (p.Ala740Thr) http://identifiers.org/clinvar/184290 ^@ NM_000051.3(ATM):c.2220A>G (p.Ala740=) http://identifiers.org/clinvar/187260 ^@ NM_000051.3(ATM):c.2238C>T (p.Phe746=) http://identifiers.org/clinvar/186418 ^@ NM_000051.3(ATM):c.2251-4A>G http://identifiers.org/clinvar/185861 ^@ NM_000051.3(ATM):c.2254C>G (p.Leu752Val) http://identifiers.org/clinvar/185556 ^@ NM_000051.3(ATM):c.2276G>A (p.Ser759Asn) http://identifiers.org/clinvar/187556 ^@ NM_000051.3(ATM):c.2426C>A (p.Ser809Ter) http://identifiers.org/clinvar/185268 ^@ NM_000051.3(ATM):c.2442C>T (p.Asp814=) http://identifiers.org/clinvar/186901 ^@ NM_000051.3(ATM):c.2450A>G (p.Asp817Gly) http://identifiers.org/clinvar/186216 ^@ NM_000051.3(ATM):c.2466+1delG http://identifiers.org/clinvar/186370 ^@ NM_000051.3(ATM):c.2467G>T (p.Ala823Ser) http://identifiers.org/clinvar/186873 ^@ NM_000051.3(ATM):c.2472C>T (p.Ser824=) http://identifiers.org/clinvar/187178 ^@ NM_000051.3(ATM):c.2492A>G (p.Asp831Gly) http://identifiers.org/clinvar/185978 ^@ NM_000051.3(ATM):c.2519A>T (p.Asp840Val) http://identifiers.org/clinvar/184552 ^@ NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) http://identifiers.org/clinvar/183830 ^@ NM_000051.3(ATM):c.2532A>G (p.Gly844=) http://identifiers.org/clinvar/184982 ^@ NM_000051.3(ATM):c.2606C>G (p.Ala869Gly) http://identifiers.org/clinvar/186608 ^@ NM_000051.3(ATM):c.2606C>T (p.Ala869Val) http://identifiers.org/clinvar/186472 ^@ NM_000051.3(ATM):c.2615C>T (p.Pro872Leu) http://identifiers.org/clinvar/184455 ^@ NM_000051.3(ATM):c.2679A>G (p.Gln893=) http://identifiers.org/clinvar/186473 ^@ NM_000051.3(ATM):c.2697C>T (p.Asp899=) http://identifiers.org/clinvar/185598 ^@ NM_000051.3(ATM):c.2698A>G (p.Met900Val) http://identifiers.org/clinvar/185390 ^@ NM_000051.3(ATM):c.2720G>T (p.Cys907Phe) http://identifiers.org/clinvar/186103 ^@ NM_000051.3(ATM):c.2720_2723delGTGT (p.Cys907Terfs) http://identifiers.org/clinvar/186728 ^@ NM_000051.3(ATM):c.2725A>T (p.Thr909Ser) http://identifiers.org/clinvar/186637 ^@ NM_000051.3(ATM):c.2743A>G (p.Thr915Ala) http://identifiers.org/clinvar/185985 ^@ NM_000051.3(ATM):c.2754delT (p.Phe918Leufs) http://identifiers.org/clinvar/184759 ^@ NM_000051.3(ATM):c.2764G>C (p.Asp922His) http://identifiers.org/clinvar/184118 ^@ NM_000051.3(ATM):c.2778A>G (p.Lys926=) http://identifiers.org/clinvar/186898 ^@ NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) http://identifiers.org/clinvar/185083 ^@ NM_000051.3(ATM):c.2804C>G (p.Thr935Arg) http://identifiers.org/clinvar/186773 ^@ NM_000051.3(ATM):c.2808A>G (p.Leu936=) http://identifiers.org/clinvar/187342 ^@ NM_000051.3(ATM):c.2824C>T (p.Leu942Phe) http://identifiers.org/clinvar/185405 ^@ NM_000051.3(ATM):c.2839-3_2839delTAGTinsGATACTA http://identifiers.org/clinvar/186574 ^@ NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) http://identifiers.org/clinvar/187284 ^@ NM_000051.3(ATM):c.2921C>G (p.Ser974Cys) http://identifiers.org/clinvar/186354 ^@ NM_000051.3(ATM):c.2921C>T (p.Ser974Phe) http://identifiers.org/clinvar/187123 ^@ NM_000051.3(ATM):c.2927T>C (p.Val976Ala) http://identifiers.org/clinvar/184551 ^@ NM_000051.3(ATM):c.2934T>G (p.Ser978=) http://identifiers.org/clinvar/184953 ^@ NM_000051.3(ATM):c.2945G>A (p.Arg982His) http://identifiers.org/clinvar/187188 ^@ NM_000051.3(ATM):c.2965delA (p.Thr989Leufs) http://identifiers.org/clinvar/184783 ^@ NM_000051.3(ATM):c.3003A>G (p.Leu1001=) http://identifiers.org/clinvar/187555 ^@ NM_000051.3(ATM):c.3048A>G (p.Gly1016=) http://identifiers.org/clinvar/185714 ^@ NM_000051.3(ATM):c.3062T>G (p.Val1021Gly) http://identifiers.org/clinvar/185803 ^@ NM_000051.3(ATM):c.3064A>G (p.Ile1022Val) http://identifiers.org/clinvar/184554 ^@ NM_000051.3(ATM):c.3135C>T (p.Cys1045=) http://identifiers.org/clinvar/186558 ^@ NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) http://identifiers.org/clinvar/186789 ^@ NM_000051.3(ATM):c.3213T>C (p.Asn1071=) http://identifiers.org/clinvar/184040 ^@ NM_000051.3(ATM):c.3219A>G (p.Val1073=) http://identifiers.org/clinvar/186923 ^@ NM_000051.3(ATM):c.3273G>A (p.Glu1091=) http://identifiers.org/clinvar/186152 ^@ NM_000051.3(ATM):c.3328G>A (p.Ala1110Thr) http://identifiers.org/clinvar/185137 ^@ NM_000051.3(ATM):c.3349C>T (p.Gln1117Ter) http://identifiers.org/clinvar/185554 ^@ NM_000051.3(ATM):c.3354A>G (p.Thr1118=) http://identifiers.org/clinvar/185136 ^@ NM_000051.3(ATM):c.3355G>T (p.Ala1119Ser) http://identifiers.org/clinvar/185308 ^@ NM_000051.3(ATM):c.3378A>G (p.Lys1126=) http://identifiers.org/clinvar/187380 ^@ NM_000051.3(ATM):c.3402+3A>G http://identifiers.org/clinvar/187143 ^@ NM_000051.3(ATM):c.3407A>G (p.His1136Arg) http://identifiers.org/clinvar/184330 ^@ NM_000051.3(ATM):c.3411T>C (p.Ser1137=) http://identifiers.org/clinvar/186567 ^@ NM_000051.3(ATM):c.3415G>C (p.Glu1139Gln) http://identifiers.org/clinvar/185632 ^@ NM_000051.3(ATM):c.3447T>C (p.Asn1149=) http://identifiers.org/clinvar/183992 ^@ NM_000051.3(ATM):c.3448A>C (p.Arg1150=) http://identifiers.org/clinvar/183918 ^@ NM_000051.3(ATM):c.3467C>T (p.Thr1156Met) http://identifiers.org/clinvar/183906 ^@ NM_000051.3(ATM):c.3468G>A (p.Thr1156=) http://identifiers.org/clinvar/186729 ^@ NM_000051.3(ATM):c.3505G>A (p.Glu1169Lys) http://identifiers.org/clinvar/186387 ^@ NM_000051.3(ATM):c.3528G>T (p.Leu1176=) http://identifiers.org/clinvar/186973 ^@ NM_000051.3(ATM):c.3577G>A (p.Val1193Ile) http://identifiers.org/clinvar/184211 ^@ NM_000051.3(ATM):c.3588A>G (p.Lys1196=) http://identifiers.org/clinvar/186589 ^@ NM_000051.3(ATM):c.3611G>A (p.Arg1204Lys) http://identifiers.org/clinvar/183907 ^@ NM_000051.3(ATM):c.3618A>G (p.Leu1206=) http://identifiers.org/clinvar/187552 ^@ NM_000051.3(ATM):c.3626_3627delTT (p.Phe1209Tyrfs) http://identifiers.org/clinvar/186997 ^@ NM_000051.3(ATM):c.3693_3695delATC (p.Leu1231_Ser1232delinsPhe) http://identifiers.org/clinvar/186372 ^@ NM_000051.3(ATM):c.3710T>G (p.Ile1237Ser) http://identifiers.org/clinvar/184764 ^@ NM_000051.3(ATM):c.3712_3716delTTATT (p.Leu1238Lysfs) http://identifiers.org/clinvar/185042 ^@ NM_000051.3(ATM):c.3754_3756delTATinsCA (p.Tyr1252Glnfs) http://identifiers.org/clinvar/187146 ^@ NM_000051.3(ATM):c.3760delG (p.Val1254Phefs) http://identifiers.org/clinvar/186649 ^@ NM_000051.3(ATM):c.3774T>A (p.His1258Gln) http://identifiers.org/clinvar/186102 ^@ NM_000051.3(ATM):c.3780dupG (p.Ile1261Aspfs) http://identifiers.org/clinvar/187291 ^@ NM_000051.3(ATM):c.3785G>T (p.Arg1262Ile) http://identifiers.org/clinvar/187620 ^@ NM_000051.3(ATM):c.3793T>C (p.Phe1265Leu) http://identifiers.org/clinvar/184894 ^@ NM_000051.3(ATM):c.3793T>G (p.Phe1265Val) http://identifiers.org/clinvar/185981 ^@ NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) http://identifiers.org/clinvar/184808 ^@ NM_000051.3(ATM):c.3831G>A (p.Glu1277=) http://identifiers.org/clinvar/187138 ^@ NM_000051.3(ATM):c.3895delG (p.Ala1299Profs) http://identifiers.org/clinvar/186870 ^@ NM_000051.3(ATM):c.3896C>T (p.Ala1299Val) http://identifiers.org/clinvar/186895 ^@ NM_000051.3(ATM):c.3965T>A (p.Leu1322His) http://identifiers.org/clinvar/186087 ^@ NM_000051.3(ATM):c.3978C>A (p.Asn1326Lys) http://identifiers.org/clinvar/183935 ^@ NM_000051.3(ATM):c.4008C>T (p.Phe1336=) http://identifiers.org/clinvar/186770 ^@ NM_000051.3(ATM):c.4050G>A (p.Thr1350=) http://identifiers.org/clinvar/185658 ^@ NM_000051.3(ATM):c.4052delT (p.Leu1351Tyrfs) http://identifiers.org/clinvar/185171 ^@ NM_000051.3(ATM):c.4079G>A (p.Ser1360Asn) http://identifiers.org/clinvar/185234 ^@ NM_000051.3(ATM):c.4082A>G (p.Gln1361Arg) http://identifiers.org/clinvar/185723 ^@ NM_000051.3(ATM):c.4127C>G (p.Pro1376Arg) http://identifiers.org/clinvar/185040 ^@ NM_000051.3(ATM):c.4146A>G (p.Pro1382=) http://identifiers.org/clinvar/183939 ^@ NM_000051.3(ATM):c.4149G>A (p.Ser1383=) http://identifiers.org/clinvar/187474 ^@ NM_000051.3(ATM):c.4196C>A (p.Thr1399Asn) http://identifiers.org/clinvar/184971 ^@ NM_000051.3(ATM):c.4210A>G (p.Ile1404Val) http://identifiers.org/clinvar/187606 ^@ NM_000051.3(ATM):c.4306C>T (p.His1436Tyr) http://identifiers.org/clinvar/185311 ^@ NM_000051.3(ATM):c.4329C>A (p.His1443Gln) http://identifiers.org/clinvar/184635 ^@ NM_000051.3(ATM):c.4332G>A (p.Leu1444=) http://identifiers.org/clinvar/184588 ^@ NM_000051.3(ATM):c.4345T>C (p.Leu1449=) http://identifiers.org/clinvar/186032 ^@ NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) http://identifiers.org/clinvar/184024 ^@ NM_000051.3(ATM):c.4398A>G (p.Arg1466=) http://identifiers.org/clinvar/183820 ^@ NM_000051.3(ATM):c.4416G>A (p.Leu1472=) http://identifiers.org/clinvar/185644 ^@ NM_000051.3(ATM):c.4442_4444delCTT (p.Ser1481del) http://identifiers.org/clinvar/185247 ^@ NM_000051.3(ATM):c.4445G>A (p.Cys1482Tyr) http://identifiers.org/clinvar/187428 ^@ NM_000051.3(ATM):c.4449C>T (p.Ile1483=) http://identifiers.org/clinvar/187503 ^@ NM_000051.3(ATM):c.4451T>C (p.Met1484Thr) http://identifiers.org/clinvar/186957 ^@ NM_000051.3(ATM):c.4456G>C (p.Val1486Leu) http://identifiers.org/clinvar/184493 ^@ NM_000051.3(ATM):c.4492T>C (p.Leu1498=) http://identifiers.org/clinvar/187509 ^@ NM_000051.3(ATM):c.4499A>G (p.Gln1500Arg) http://identifiers.org/clinvar/184538 ^@ NM_000051.3(ATM):c.4515C>T (p.Ala1505=) http://identifiers.org/clinvar/186073 ^@ NM_000051.3(ATM):c.4562T>C (p.Val1521Ala) http://identifiers.org/clinvar/186834 ^@ NM_000051.3(ATM):c.4575A>T (p.Ile1525=) http://identifiers.org/clinvar/186217 ^@ NM_000051.3(ATM):c.4626G>A (p.Leu1542=) http://identifiers.org/clinvar/184293 ^@ NM_000051.3(ATM):c.4665C>T (p.Leu1555=) http://identifiers.org/clinvar/185766 ^@ NM_000051.3(ATM):c.4702C>T (p.His1568Tyr) http://identifiers.org/clinvar/187725 ^@ NM_000051.3(ATM):c.4716G>C (p.Lys1572Asn) http://identifiers.org/clinvar/185156 ^@ NM_000051.3(ATM):c.4731T>C (p.Thr1577=) http://identifiers.org/clinvar/185808 ^@ NM_000051.3(ATM):c.4759C>G (p.Pro1587Ala) http://identifiers.org/clinvar/186464 ^@ NM_000051.3(ATM):c.4776G>C (p.Glu1592Asp) http://identifiers.org/clinvar/187163 ^@ NM_000051.3(ATM):c.4814C>T (p.Ala1605Val) http://identifiers.org/clinvar/187216 ^@ NM_000051.3(ATM):c.4821A>G (p.Pro1607=) http://identifiers.org/clinvar/184382 ^@ NM_000051.3(ATM):c.4833T>G (p.Leu1611=) http://identifiers.org/clinvar/187207 ^@ NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter) http://identifiers.org/clinvar/184966 ^@ NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) http://identifiers.org/clinvar/186527 ^@ NM_000051.3(ATM):c.4868T>C (p.Leu1623Pro) http://identifiers.org/clinvar/187337 ^@ NM_000051.3(ATM):c.4878T>C (p.Asp1626=) http://identifiers.org/clinvar/187603 ^@ NM_000051.3(ATM):c.4880A>T (p.Gln1627Leu) http://identifiers.org/clinvar/185836 ^@ NM_000051.3(ATM):c.4910-4C>T http://identifiers.org/clinvar/184755 ^@ NM_000051.3(ATM):c.4941A>G (p.Leu1647=) http://identifiers.org/clinvar/184141 ^@ NM_000051.3(ATM):c.4953G>A (p.Leu1651=) http://identifiers.org/clinvar/184002 ^@ NM_000051.3(ATM):c.4964C>A (p.Ser1655Tyr) http://identifiers.org/clinvar/187106 ^@ NM_000051.3(ATM):c.5088T>C (p.Tyr1696=) http://identifiers.org/clinvar/185911 ^@ NM_000051.3(ATM):c.5101A>G (p.Lys1701Glu) http://identifiers.org/clinvar/186976 ^@ NM_000051.3(ATM):c.5136C>T (p.Phe1712=) http://identifiers.org/clinvar/186194 ^@ NM_000051.3(ATM):c.5145G>A (p.Leu1715=) http://identifiers.org/clinvar/186831 ^@ NM_000051.3(ATM):c.5157T>C (p.Asn1719=) http://identifiers.org/clinvar/187672 ^@ NM_000051.3(ATM):c.5162C>T (p.Thr1721Ile) http://identifiers.org/clinvar/184675 ^@ NM_000051.3(ATM):c.5190A>G (p.Arg1730=) http://identifiers.org/clinvar/186974 ^@ NM_000051.3(ATM):c.5267C>G (p.Thr1756Arg) http://identifiers.org/clinvar/184798 ^@ NM_000051.3(ATM):c.5292A>G (p.Leu1764=) http://identifiers.org/clinvar/183764 ^@ NM_000051.3(ATM):c.5352C>T (p.Asn1784=) http://identifiers.org/clinvar/186433 ^@ NM_000051.3(ATM):c.5417T>C (p.Ile1806Thr) http://identifiers.org/clinvar/186119 ^@ NM_000051.3(ATM):c.5496+5G>T http://identifiers.org/clinvar/187521 ^@ NM_000051.3(ATM):c.5497-2A>G http://identifiers.org/clinvar/184944 ^@ NM_000051.3(ATM):c.5544T>C (p.Asp1848=) http://identifiers.org/clinvar/184456 ^@ NM_000051.3(ATM):c.5550A>G (p.Leu1850=) http://identifiers.org/clinvar/183866 ^@ NM_000051.3(ATM):c.5553C>G (p.Leu1851=) http://identifiers.org/clinvar/187659 ^@ NM_000051.3(ATM):c.5589T>C (p.Ser1863=) http://identifiers.org/clinvar/186612 ^@ NM_000051.3(ATM):c.5636A>G (p.Gln1879Arg) http://identifiers.org/clinvar/185625 ^@ NM_000051.3(ATM):c.5728C>A (p.Leu1910Ile) http://identifiers.org/clinvar/186262 ^@ NM_000051.3(ATM):c.5765delC (p.Pro1922Leufs) http://identifiers.org/clinvar/187366 ^@ NM_000051.3(ATM):c.5776_5790delACAATTTTTAATGAT (p.Thr1926_Asp1930del) http://identifiers.org/clinvar/187356 ^@ NM_000051.3(ATM):c.5812T>A (p.Tyr1938Asn) http://identifiers.org/clinvar/186146 ^@ NM_000051.3(ATM):c.5892G>C (p.Lys1964Asn) http://identifiers.org/clinvar/185328 ^@ NM_000051.3(ATM):c.5917A>G (p.Arg1973Gly) http://identifiers.org/clinvar/187479 ^@ NM_000051.3(ATM):c.5938G>A (p.Gly1980Arg) http://identifiers.org/clinvar/187013 ^@ NM_000051.3(ATM):c.5971G>A (p.Glu1991Lys) http://identifiers.org/clinvar/185229 ^@ NM_000051.3(ATM):c.6006+1G>A http://identifiers.org/clinvar/185967 ^@ NM_000051.3(ATM):c.6040G>C (p.Glu2014Gln) http://identifiers.org/clinvar/184453 ^@ NM_000051.3(ATM):c.6042G>A (p.Glu2014=) http://identifiers.org/clinvar/187704 ^@ NM_000051.3(ATM):c.6097C>T (p.Leu2033=) http://identifiers.org/clinvar/185724 ^@ NM_000051.3(ATM):c.6108T>C (p.Tyr2036=) http://identifiers.org/clinvar/187634 ^@ NM_000051.3(ATM):c.6114C>T (p.His2038=) http://identifiers.org/clinvar/187481 ^@ NM_000051.3(ATM):c.6145T>G (p.Tyr2049Asp) http://identifiers.org/clinvar/187461 ^@ NM_000051.3(ATM):c.6147T>C (p.Tyr2049=) http://identifiers.org/clinvar/186941 ^@ NM_000051.3(ATM):c.6198G>C (p.Gln2066His) http://identifiers.org/clinvar/185332 ^@ NM_000051.3(ATM):c.6198+3A>G http://identifiers.org/clinvar/186516 ^@ NM_000051.3(ATM):c.6228delT (p.Leu2077Phefs) http://identifiers.org/clinvar/184079 ^@ NM_000051.3(ATM):c.6234C>T (p.Ser2078=) http://identifiers.org/clinvar/183983 ^@ NM_000051.3(ATM):c.6250T>C (p.Leu2084=) http://identifiers.org/clinvar/184258 ^@ NM_000051.3(ATM):c.6323A>G (p.Gln2108Arg) http://identifiers.org/clinvar/186642 ^@ NM_000051.3(ATM):c.6382T>C (p.Leu2128=) http://identifiers.org/clinvar/184369 ^@ NM_000051.3(ATM):c.6396A>G (p.Leu2132=) http://identifiers.org/clinvar/185549 ^@ NM_000051.3(ATM):c.6433_6445delGAAAGTCTCAAAT (p.Glu2145Metfs) http://identifiers.org/clinvar/185624 ^@ NM_000051.3(ATM):c.6436dupA (p.Ser2146Lysfs) http://identifiers.org/clinvar/184230 ^@ NM_000051.3(ATM):c.6465G>A (p.Val2155=) http://identifiers.org/clinvar/185236 ^@ NM_000051.3(ATM):c.6482G>A (p.Arg2161His) http://identifiers.org/clinvar/187165 ^@ NM_000051.3(ATM):c.6504G>A (p.Ser2168=) http://identifiers.org/clinvar/186408 ^@ NM_000051.3(ATM):c.6522C>A (p.Ser2174Arg) http://identifiers.org/clinvar/186221 ^@ NM_000051.3(ATM):c.6537T>G (p.Ile2179Met) http://identifiers.org/clinvar/186753 ^@ NM_000051.3(ATM):c.6552C>T (p.Ser2184=) http://identifiers.org/clinvar/187010 ^@ NM_000051.3(ATM):c.6585T>C (p.His2195=) http://identifiers.org/clinvar/185367 ^@ NM_000051.3(ATM):c.6678A>G (p.Leu2226=) http://identifiers.org/clinvar/186856 ^@ NM_000051.3(ATM):c.6700C>T (p.Leu2234=) http://identifiers.org/clinvar/185950 ^@ NM_000051.3(ATM):c.6722A>G (p.Asn2241Ser) http://identifiers.org/clinvar/186930 ^@ NM_000051.3(ATM):c.6758A>C (p.Lys2253Thr) http://identifiers.org/clinvar/185334 ^@ NM_000051.3(ATM):c.6776C>G (p.Ser2259Cys) http://identifiers.org/clinvar/185894 ^@ NM_000051.3(ATM):c.6846T>C (p.Asn2282=) http://identifiers.org/clinvar/186571 ^@ NM_000051.3(ATM):c.6857G>A (p.Cys2286Tyr) http://identifiers.org/clinvar/185012 ^@ NM_000051.3(ATM):c.6860G>A (p.Gly2287Glu) http://identifiers.org/clinvar/183995 ^@ NM_000051.3(ATM):c.6888A>T (p.Ala2296=) http://identifiers.org/clinvar/183966 ^@ NM_000051.3(ATM):c.6925C>T (p.Leu2309=) http://identifiers.org/clinvar/186148 ^@ NM_000051.3(ATM):c.6983C>T (p.Pro2328Leu) http://identifiers.org/clinvar/187035 ^@ NM_000051.3(ATM):c.7000_7003delTACA (p.Tyr2334Glnfs) http://identifiers.org/clinvar/186867 ^@ NM_000051.3(ATM):c.7004C>T (p.Thr2335Ile) http://identifiers.org/clinvar/186841 ^@ NM_000051.3(ATM):c.7038A>T (p.Ala2346=) http://identifiers.org/clinvar/184489 ^@ NM_000051.3(ATM):c.7062G>A (p.Ala2354=) http://identifiers.org/clinvar/187526 ^@ NM_000051.3(ATM):c.7116T>C (p.Asp2372=) http://identifiers.org/clinvar/186547 ^@ NM_000051.3(ATM):c.7131T>C (p.Asp2377=) http://identifiers.org/clinvar/186475 ^@ NM_000051.3(ATM):c.7135C>G (p.Leu2379Val) http://identifiers.org/clinvar/187391 ^@ NM_000051.3(ATM):c.7157C>A (p.Ala2386Glu) http://identifiers.org/clinvar/186868 ^@ NM_000051.3(ATM):c.7174C>T (p.Arg2392Trp) http://identifiers.org/clinvar/185034 ^@ NM_000051.3(ATM):c.7221A>G (p.Ser2407=) http://identifiers.org/clinvar/186904 ^@ NM_000051.3(ATM):c.7235A>G (p.Asn2412Ser) http://identifiers.org/clinvar/185600 ^@ NM_000051.3(ATM):c.7248C>T (p.Leu2416=) http://identifiers.org/clinvar/186315 ^@ NM_000051.3(ATM):c.7289A>G (p.His2430Arg) http://identifiers.org/clinvar/187003 ^@ NM_000051.3(ATM):c.7307G>A (p.Arg2436Lys) http://identifiers.org/clinvar/185361 ^@ NM_000051.3(ATM):c.7316T>C (p.Val2439Ala) http://identifiers.org/clinvar/184569 ^@ NM_000051.3(ATM):c.7359T>G (p.Arg2453=) http://identifiers.org/clinvar/185539 ^@ NM_000051.3(ATM):c.7365G>C (p.Leu2455=) http://identifiers.org/clinvar/185845 ^@ NM_000051.3(ATM):c.7375C>T (p.Arg2459Cys) http://identifiers.org/clinvar/187037 ^@ NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) http://identifiers.org/clinvar/187439 ^@ NM_000051.3(ATM):c.7465_7466delTC (p.Ser2489Profs) http://identifiers.org/clinvar/183877 ^@ NM_000051.3(ATM):c.7521C>T (p.Asp2507=) http://identifiers.org/clinvar/187265 ^@ NM_000051.3(ATM):c.7522G>A (p.Gly2508Arg) http://identifiers.org/clinvar/184103 ^@ NM_000051.3(ATM):c.7533T>C (p.Ile2511=) http://identifiers.org/clinvar/186244 ^@ NM_000051.3(ATM):c.7536A>G (p.Pro2512=) http://identifiers.org/clinvar/187253 ^@ NM_000051.3(ATM):c.7542T>C (p.Tyr2514=) http://identifiers.org/clinvar/187613 ^@ NM_000051.3(ATM):c.7570G>C (p.Ala2524Pro) http://identifiers.org/clinvar/187478 ^@ NM_000051.3(ATM):c.7593G>A (p.Met2531Ile) http://identifiers.org/clinvar/186579 ^@ NM_000051.3(ATM):c.7629+2T>C http://identifiers.org/clinvar/185440 ^@ NM_000051.3(ATM):c.7654C>A (p.His2552Asn) http://identifiers.org/clinvar/187335 ^@ NM_000051.3(ATM):c.7663C>A (p.His2555Asn) http://identifiers.org/clinvar/184715 ^@ NM_000051.3(ATM):c.7701C>T (p.Asn2567=) http://identifiers.org/clinvar/185241 ^@ NM_000051.3(ATM):c.7774T>C (p.Ser2592Pro) http://identifiers.org/clinvar/186713 ^@ NM_000051.3(ATM):c.7775C>G (p.Ser2592Cys) http://identifiers.org/clinvar/187077 ^@ NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) http://identifiers.org/clinvar/187566 ^@ NM_000051.3(ATM):c.7816_7818delATA (p.Ile2606del) http://identifiers.org/clinvar/187688 ^@ NM_000051.3(ATM):c.7865C>G (p.Ala2622Gly) http://identifiers.org/clinvar/185495 ^@ NM_000051.3(ATM):c.7948G>A (p.Asp2650Asn) http://identifiers.org/clinvar/187295 ^@ NM_000051.3(ATM):c.7961C>T (p.Thr2654Ile) http://identifiers.org/clinvar/184187 ^@ NM_000051.3(ATM):c.7983T>C (p.Asp2661=) http://identifiers.org/clinvar/186318 ^@ NM_000051.3(ATM):c.8026G>A (p.Glu2676Lys) http://identifiers.org/clinvar/185795 ^@ NM_000051.3(ATM):c.8036_8051del16 (p.Asn2679Serfs) http://identifiers.org/clinvar/187232 ^@ NM_000051.3(ATM):c.8094A>G (p.Leu2698=) http://identifiers.org/clinvar/183972 ^@ NM_000051.3(ATM):c.8100A>G (p.Lys2700=) http://identifiers.org/clinvar/184572 ^@ NM_000051.3(ATM):c.8112T>C (p.Cys2704=) http://identifiers.org/clinvar/185736 ^@ NM_000051.3(ATM):c.8154C>T (p.Gly2718=) http://identifiers.org/clinvar/185832 ^@ NM_000051.3(ATM):c.8155C>T (p.Arg2719Cys) http://identifiers.org/clinvar/185555 ^@ NM_000051.3(ATM):c.8199G>A (p.Gln2733=) http://identifiers.org/clinvar/187086 ^@ NM_000051.3(ATM):c.8217G>A (p.Leu2739=) http://identifiers.org/clinvar/184010 ^@ NM_000051.3(ATM):c.8229G>A (p.Thr2743=) http://identifiers.org/clinvar/186768 ^@ NM_000051.3(ATM):c.8231A>C (p.Glu2744Ala) http://identifiers.org/clinvar/186624 ^@ NM_000051.3(ATM):c.8234C>T (p.Thr2745Ile) http://identifiers.org/clinvar/185368 ^@ NM_000051.3(ATM):c.8251_8254delACTA (p.Thr2751Serfs) http://identifiers.org/clinvar/186351 ^@ NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) http://identifiers.org/clinvar/187755 ^@ NM_000051.3(ATM):c.8299C>T (p.Leu2767Phe) http://identifiers.org/clinvar/185616 ^@ NM_000051.3(ATM):c.8305_8317delTGGTGCACAGGAA (p.Trp2769Leufs) http://identifiers.org/clinvar/186915 ^@ NM_000051.3(ATM):c.8318C>A (p.Thr2773Asn) http://identifiers.org/clinvar/185742 ^@ NM_000051.3(ATM):c.8367delAinsTT (p.Lys2789Asnfs) http://identifiers.org/clinvar/186242 ^@ NM_000051.3(ATM):c.8395_8404delTTTCAGTGCC (p.Phe2799Lysfs) http://identifiers.org/clinvar/187619 ^@ NM_000051.3(ATM):c.8424G>T (p.Val2808=) http://identifiers.org/clinvar/187124 ^@ NM_000051.3(ATM):c.8432dupA (p.Ser2812Valfs) http://identifiers.org/clinvar/185684 ^@ NM_000051.3(ATM):c.8434T>C (p.Ser2812Pro) http://identifiers.org/clinvar/186852 ^@ NM_000051.3(ATM):c.8476_8477dupAA (p.Asn2826Lysfs) http://identifiers.org/clinvar/186122 ^@ NM_000051.3(ATM):c.8479T>A (p.Phe2827Ile) http://identifiers.org/clinvar/186523 ^@ NM_000051.3(ATM):c.8521G>T (p.Asp2841Tyr) http://identifiers.org/clinvar/187621 ^@ NM_000051.3(ATM):c.8530A>G (p.Ile2844Val) http://identifiers.org/clinvar/184399 ^@ NM_000051.3(ATM):c.8556T>C (p.Tyr2852=) http://identifiers.org/clinvar/186569 ^@ NM_000051.3(ATM):c.8571T>C (p.Ala2857=) http://identifiers.org/clinvar/187026 ^@ NM_000051.3(ATM):c.8574T>C (p.Thr2858=) http://identifiers.org/clinvar/187196 ^@ NM_000051.3(ATM):c.8576C>G (p.Ser2859Cys) http://identifiers.org/clinvar/185078 ^@ NM_000051.3(ATM):c.8588G>T (p.Gly2863Val) http://identifiers.org/clinvar/185499 ^@ NM_000051.3(ATM):c.8593A>G (p.Ile2865Val) http://identifiers.org/clinvar/186482 ^@ NM_000051.3(ATM):c.8596C>G (p.Leu2866Val) http://identifiers.org/clinvar/185299 ^@ NM_000051.3(ATM):c.8656_8658delGTAinsATT (p.Val2886Ile) http://identifiers.org/clinvar/186276 ^@ NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) http://identifiers.org/clinvar/186415 ^@ NM_000051.3(ATM):c.8715A>G (p.Thr2905=) http://identifiers.org/clinvar/186851 ^@ NM_000051.3(ATM):c.8731A>G (p.Thr2911Ala) http://identifiers.org/clinvar/187320 ^@ NM_000051.3(ATM):c.8741T>C (p.Ile2914Thr) http://identifiers.org/clinvar/184323 ^@ NM_000051.3(ATM):c.8751C>G (p.Gly2917=) http://identifiers.org/clinvar/184226 ^@ NM_000051.3(ATM):c.8763G>A (p.Thr2921=) http://identifiers.org/clinvar/186575 ^@ NM_000051.3(ATM):c.8768T>A (p.Val2923Asp) http://identifiers.org/clinvar/187060 ^@ NM_000051.3(ATM):c.8786+1G>C http://identifiers.org/clinvar/184741 ^@ NM_000051.3(ATM):c.8786+1G>T http://identifiers.org/clinvar/187681 ^@ NM_000051.3(ATM):c.8809G>A (p.Val2937Met) http://identifiers.org/clinvar/185135 ^@ NM_000051.3(ATM):c.8820C>T (p.Asn2940=) http://identifiers.org/clinvar/187144 ^@ NM_000051.3(ATM):c.8833C>G (p.Leu2945Val) http://identifiers.org/clinvar/186546 ^@ NM_000051.3(ATM):c.8833_8834delCT (p.Leu2945Valfs) http://identifiers.org/clinvar/185902 ^@ NM_000051.3(ATM):c.8835_8836delGT (p.Leu2946Asnfs) http://identifiers.org/clinvar/187285 ^@ NM_000051.3(ATM):c.8919G>A (p.Arg2973=) http://identifiers.org/clinvar/185650 ^@ NM_000051.3(ATM):c.8928T>C (p.Asp2976=) http://identifiers.org/clinvar/187422 ^@ NM_000051.3(ATM):c.8938C>A (p.Leu2980Ile) http://identifiers.org/clinvar/187627 ^@ NM_000051.3(ATM):c.8942A>G (p.His2981Arg) http://identifiers.org/clinvar/187121 ^@ NM_000051.3(ATM):c.8942delA (p.His2981Profs) http://identifiers.org/clinvar/186330 ^@ NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) http://identifiers.org/clinvar/184922 ^@ NM_000051.3(ATM):c.8983C>A (p.Leu2995Ile) http://identifiers.org/clinvar/187308 ^@ NM_000051.3(ATM):c.8987+1G>C http://identifiers.org/clinvar/184495 ^@ NM_000051.3(ATM):c.8987+3G>A http://identifiers.org/clinvar/185326 ^@ NM_000051.3(ATM):c.8988-2A>G http://identifiers.org/clinvar/183808 ^@ NM_000051.3(ATM):c.9006C>T (p.Phe3002=) http://identifiers.org/clinvar/186935 ^@ NM_000051.3(ATM):c.9045G>A (p.Glu3015=) http://identifiers.org/clinvar/186742 ^@ NM_000051.3(ATM):c.9071C>T (p.Thr3024Ile) http://identifiers.org/clinvar/186774 ^@ NM_000051.3(ATM):c.9084T>C (p.Val3028=) http://identifiers.org/clinvar/187317 ^@ NM_000051.3(ATM):c.9119T>C (p.Ile3040Thr) http://identifiers.org/clinvar/184557 ^@ NM_003002.3(SDHD):c.282C>G (p.Ser94=) http://identifiers.org/clinvar/186590 ^@ NM_003002.3(SDHD):c.298_301delACTC (p.Thr100Phefs) http://identifiers.org/clinvar/185719 ^@ NM_003002.3(SDHD):c.304C>A (p.His102Asn) http://identifiers.org/clinvar/185859 ^@ NM_003002.3(SDHD):c.338A>T (p.Asp113Val) http://identifiers.org/clinvar/187700 ^@ NM_003002.3(SDHD):c.412G>A (p.Gly138Arg) http://identifiers.org/clinvar/187214 ^@ NM_017841.2(SDHAF2):c.286C>T (p.His96Tyr) http://identifiers.org/clinvar/187237 ^@ NM_005591.3(MRE11):c.2109_2117delAAGAAGAAA (p.Leu703_Asn706delinsPhe) http://identifiers.org/clinvar/183941 ^@ NM_005591.3(MRE11):c.2115A>G (p.Arg705=) http://identifiers.org/clinvar/186502 ^@ NM_005591.3(MRE11):c.2083_2085dupGAT (p.Asp695_Pro696insAsp) http://identifiers.org/clinvar/184593 ^@ NM_005591.3(MRE11):c.2076T>A (p.Asp692Glu) http://identifiers.org/clinvar/186243 ^@ NM_005591.3(MRE11):c.2070+2T>A http://identifiers.org/clinvar/183959 ^@ NM_005591.3(MRE11):c.2052T>C (p.Val684=) http://identifiers.org/clinvar/186158 ^@ NM_005591.3(MRE11):c.2049G>A (p.Gly683=) http://identifiers.org/clinvar/187596 ^@ NM_005591.3(MRE11):c.2047G>A (p.Gly683Arg) http://identifiers.org/clinvar/187676 ^@ NM_005591.3(MRE11):c.2037A>G (p.Gln679=) http://identifiers.org/clinvar/187614 ^@ NM_005591.3(MRE11):c.1995-5C>A http://identifiers.org/clinvar/183898 ^@ NM_005591.3(MRE11):c.1887G>A (p.Gln629=) http://identifiers.org/clinvar/187499 ^@ NM_005591.3(MRE11):c.1880C>T (p.Thr627Ile) http://identifiers.org/clinvar/187174 ^@ NM_005591.3(MRE11):c.1867+2T>C http://identifiers.org/clinvar/185389 ^@ NM_005591.3(MRE11):c.1834G>C (p.Val612Leu) http://identifiers.org/clinvar/186348 ^@ NM_005591.3(MRE11):c.1833T>G (p.Ala611=) http://identifiers.org/clinvar/186446 ^@ NM_005591.3(MRE11):c.1809C>G (p.Thr603=) http://identifiers.org/clinvar/186961 ^@ NM_005591.3(MRE11):c.1783G>C (p.Ala595Pro) http://identifiers.org/clinvar/186844 ^@ NM_005591.3(MRE11):c.1758G>A (p.Ser586=) http://identifiers.org/clinvar/186079 ^@ NM_005591.3(MRE11):c.1757C>T (p.Ser586Leu) http://identifiers.org/clinvar/184724 ^@ NM_005591.3(MRE11):c.1746G>A (p.Gln582=) http://identifiers.org/clinvar/184445 ^@ NM_005591.3(MRE11):c.1726C>T (p.Arg576Ter) http://identifiers.org/clinvar/186717 ^@ NM_005591.3(MRE11):c.1726C>G (p.Arg576Gly) http://identifiers.org/clinvar/185085 ^@ NM_005591.3(MRE11):c.1715G>A (p.Arg572Gln) http://identifiers.org/clinvar/186602 ^@ NM_005591.3(MRE11):c.1699A>G (p.Asn567Asp) http://identifiers.org/clinvar/184754 ^@ NM_005591.3(MRE11):c.1676A>G (p.Asp559Gly) http://identifiers.org/clinvar/187234 ^@ NM_005591.3(MRE11):c.1671C>T (p.Asp557=) http://identifiers.org/clinvar/187353 ^@ NM_005591.3(MRE11):c.1639A>C (p.Ser547Arg) http://identifiers.org/clinvar/185715 ^@ NM_005591.3(MRE11):c.1586T>G (p.Leu529Arg) http://identifiers.org/clinvar/185426 ^@ NM_005591.3(MRE11):c.1574G>A (p.Arg525Lys) http://identifiers.org/clinvar/187448 ^@ NM_005591.3(MRE11):c.1563+3A>G http://identifiers.org/clinvar/187447 ^@ NM_005591.3(MRE11):c.1559G>A (p.Arg520His) http://identifiers.org/clinvar/186164 ^@ NM_005591.3(MRE11):c.1516G>A (p.Glu506Lys) http://identifiers.org/clinvar/185281 ^@ NM_005591.3(MRE11):c.1500G>C (p.Glu500Asp) http://identifiers.org/clinvar/186707 ^@ NM_005591.3(MRE11):c.1499A>T (p.Glu500Val) http://identifiers.org/clinvar/187624 ^@ NM_005591.3(MRE11):c.1497G>A (p.Glu499=) http://identifiers.org/clinvar/184438 ^@ NM_005591.3(MRE11):c.1491C>T (p.Ile497=) http://identifiers.org/clinvar/186706 ^@ NM_005591.3(MRE11):c.1478T>G (p.Leu493Arg) http://identifiers.org/clinvar/185720 ^@ NM_005591.3(MRE11):c.1476C>T (p.Ala492=) http://identifiers.org/clinvar/184821 ^@ NM_005591.3(MRE11):c.1470T>C (p.Ile490=) http://identifiers.org/clinvar/184056 ^@ NM_005591.3(MRE11):c.1463G>A (p.Arg488His) http://identifiers.org/clinvar/187462 ^@ NM_005591.3(MRE11):c.1462C>G (p.Arg488Gly) http://identifiers.org/clinvar/186907 ^@ NM_005591.3(MRE11):c.1445_1446delAGinsTTAA (p.Gln482Leufs) http://identifiers.org/clinvar/186802 ^@ NM_005591.3(MRE11):c.1443A>G (p.Thr481=) http://identifiers.org/clinvar/186650 ^@ NM_005591.3(MRE11):c.1404T>C (p.Asp468=) http://identifiers.org/clinvar/187370 ^@ NM_005591.3(MRE11):c.1336delC (p.Leu446Serfs) http://identifiers.org/clinvar/185166 ^@ NM_005591.3(MRE11):c.1318G>A (p.Ala440Thr) http://identifiers.org/clinvar/187070 ^@ NM_005591.3(MRE11):c.1280T>C (p.Leu427Ser) http://identifiers.org/clinvar/183763 ^@ NM_005591.3(MRE11):c.1275A>C (p.Thr425=) http://identifiers.org/clinvar/184556 ^@ NM_005591.3(MRE11):c.1222dupA (p.Thr408Asnfs) http://identifiers.org/clinvar/186168 ^@ NM_005591.3(MRE11):c.1203T>C (p.His401=) http://identifiers.org/clinvar/186128 ^@ NM_005591.3(MRE11):c.1200G>T (p.Arg400Ser) http://identifiers.org/clinvar/184903 ^@ NM_005591.3(MRE11):c.1167A>G (p.Val389=) http://identifiers.org/clinvar/187636 ^@ NM_005591.3(MRE11):c.1162C>T (p.Arg388Trp) http://identifiers.org/clinvar/184955 ^@ NM_005591.3(MRE11):c.1154T>C (p.Phe385Ser) http://identifiers.org/clinvar/186437 ^@ NM_005591.3(MRE11):c.1150A>C (p.Lys384Gln) http://identifiers.org/clinvar/186193 ^@ NM_005591.3(MRE11):c.1135dupC (p.Leu379Profs) http://identifiers.org/clinvar/183980 ^@ NM_005591.3(MRE11):c.1097G>A (p.Arg366Gln) http://identifiers.org/clinvar/187219 ^@ NM_005591.3(MRE11):c.1091G>A (p.Arg364Gln) http://identifiers.org/clinvar/186775 ^@ NM_005591.3(MRE11):c.1090C>A (p.Arg364=) http://identifiers.org/clinvar/184963 ^@ NM_005591.3(MRE11):c.1089A>G (p.Val363=) http://identifiers.org/clinvar/184478 ^@ NM_005591.3(MRE11):c.1086T>C (p.Leu362=) http://identifiers.org/clinvar/185161 ^@ NM_005591.3(MRE11):c.1051C>T (p.Arg351Cys) http://identifiers.org/clinvar/185179 ^@ NM_005591.3(MRE11):c.1024G>A (p.Glu342Lys) http://identifiers.org/clinvar/185232 ^@ NM_005591.3(MRE11):c.999A>G (p.Gln333=) http://identifiers.org/clinvar/186804 ^@ NM_005591.3(MRE11):c.971A>G (p.Asp324Gly) http://identifiers.org/clinvar/184740 ^@ NM_005591.3(MRE11):c.968C>T (p.Pro323Leu) http://identifiers.org/clinvar/184270 ^@ NM_005591.3(MRE11):c.940C>T (p.Leu314=) http://identifiers.org/clinvar/185198 ^@ NM_005591.3(MRE11):c.912G>A (p.Val304=) http://identifiers.org/clinvar/186023 ^@ NM_005591.3(MRE11):c.880A>G (p.Met294Val) http://identifiers.org/clinvar/185050 ^@ NM_005591.3(MRE11):c.869A>G (p.Lys290Arg) http://identifiers.org/clinvar/184582 ^@ NM_005591.3(MRE11):c.840A>G (p.Val280=) http://identifiers.org/clinvar/187591 ^@ NM_005591.3(MRE11):c.835G>A (p.Ala279Thr) http://identifiers.org/clinvar/185250 ^@ NM_005591.3(MRE11):c.821_823delTTTinsA (p.Leu274Hisfs) http://identifiers.org/clinvar/186591 ^@ NM_005591.3(MRE11):c.789C>G (p.Ile263Met) http://identifiers.org/clinvar/184487 ^@ NM_005591.3(MRE11):c.777G>A (p.Gln259=) http://identifiers.org/clinvar/187002 ^@ NM_005591.3(MRE11):c.773A>G (p.Gln258Arg) http://identifiers.org/clinvar/187699 ^@ NM_005591.3(MRE11):c.739dupC (p.His247Profs) http://identifiers.org/clinvar/187747 ^@ NM_005591.3(MRE11):c.718C>G (p.Leu240Val) http://identifiers.org/clinvar/187506 ^@ NM_005591.3(MRE11):c.690A>G (p.Pro230=) http://identifiers.org/clinvar/186277 ^@ NM_005591.3(MRE11):c.689C>T (p.Pro230Leu) http://identifiers.org/clinvar/187025 ^@ NM_005591.3(MRE11):c.645G>C (p.Val215=) http://identifiers.org/clinvar/186917 ^@ NM_005591.3(MRE11):c.640T>C (p.Phe214Leu) http://identifiers.org/clinvar/185117 ^@ NM_005591.3(MRE11):c.634A>G (p.Asn212Asp) http://identifiers.org/clinvar/184391 ^@ NM_005591.3(MRE11):c.618T>C (p.Asp206=) http://identifiers.org/clinvar/186806 ^@ NM_005591.3(MRE11):c.588A>G (p.Lys196=) http://identifiers.org/clinvar/185763 ^@ NM_005591.3(MRE11):c.534A>G (p.Leu178=) http://identifiers.org/clinvar/185948 ^@ NM_005591.3(MRE11):c.531G>C (p.Ala177=) http://identifiers.org/clinvar/184931 ^@ NM_005591.3(MRE11):c.530C>T (p.Ala177Val) http://identifiers.org/clinvar/185530 ^@ NM_005591.3(MRE11):c.504_511delGCTTCAAA (p.Leu169Argfs) http://identifiers.org/clinvar/187212 ^@ NM_005591.3(MRE11):c.492T>C (p.Ile164=) http://identifiers.org/clinvar/187574 ^@ NM_005591.3(MRE11):c.485T>C (p.Ile162Thr) http://identifiers.org/clinvar/184166 ^@ NM_005591.3(MRE11):c.462A>G (p.Gly154=) http://identifiers.org/clinvar/184544 ^@ NM_005591.3(MRE11):c.432A>G (p.Leu144=) http://identifiers.org/clinvar/186412 ^@ NM_005591.3(MRE11):c.358A>G (p.Ile120Val) http://identifiers.org/clinvar/186809 ^@ NM_005591.3(MRE11):c.346C>T (p.Leu116Phe) http://identifiers.org/clinvar/183762 ^@ NM_005591.3(MRE11):c.315-4dupT http://identifiers.org/clinvar/183943 ^@ NM_005591.3(MRE11):c.303T>C (p.Phe101=) http://identifiers.org/clinvar/187116 ^@ NM_005591.3(MRE11):c.297C>T (p.Val99=) http://identifiers.org/clinvar/187072 ^@ NM_005591.3(MRE11):c.294A>C (p.Ser98=) http://identifiers.org/clinvar/185603 ^@ NM_005591.3(MRE11):c.259C>T (p.Arg87Trp) http://identifiers.org/clinvar/186790 ^@ NM_005591.3(MRE11):c.250A>G (p.Met84Val) http://identifiers.org/clinvar/185333 ^@ NM_005591.3(MRE11):c.228C>T (p.Leu76=) http://identifiers.org/clinvar/186312 ^@ NM_005591.3(MRE11):c.218A>G (p.His73Arg) http://identifiers.org/clinvar/185114 ^@ NM_005591.3(MRE11):c.201C>T (p.Pro67=) http://identifiers.org/clinvar/187248 ^@ NM_005591.3(MRE11):c.188A>G (p.His63Arg) http://identifiers.org/clinvar/186847 ^@ NM_005591.3(MRE11):c.181C>G (p.Leu61Val) http://identifiers.org/clinvar/184597 ^@ NM_005591.3(MRE11):c.177T>C (p.Gly59=) http://identifiers.org/clinvar/185962 ^@ NM_005591.3(MRE11):c.154-5A>T http://identifiers.org/clinvar/187250 ^@ NM_005591.3(MRE11):c.141C>T (p.Ala47=) http://identifiers.org/clinvar/186371 ^@ NM_005591.3(MRE11):c.112G>T (p.Val38Leu) http://identifiers.org/clinvar/185511 ^@ NM_005591.3(MRE11):c.107C>T (p.Thr36Met) http://identifiers.org/clinvar/185786 ^@ NM_005591.3(MRE11):c.106A>G (p.Thr36Ala) http://identifiers.org/clinvar/184731 ^@ NM_005591.3(MRE11):c.81G>A (p.Glu27=) http://identifiers.org/clinvar/187735 ^@ NM_005591.3(MRE11):c.64C>T (p.His22Tyr) http://identifiers.org/clinvar/184884 ^@ NM_005591.3(MRE11):c.45A>G (p.Ile15Met) http://identifiers.org/clinvar/186037 ^@ NM_000075.3(CDK4):c.887A>G (p.His296Arg) http://identifiers.org/clinvar/186377 ^@ NM_000075.3(CDK4):c.805G>A (p.Ala269Thr) http://identifiers.org/clinvar/184333 ^@ NM_000075.3(CDK4):c.764G>A (p.Arg255His) http://identifiers.org/clinvar/187602 ^@ NM_000075.3(CDK4):c.718C>A (p.Arg240=) http://identifiers.org/clinvar/184151 ^@ NM_000075.3(CDK4):c.696G>A (p.Leu232=) http://identifiers.org/clinvar/186813 ^@ NM_000075.3(CDK4):c.549C>T (p.Pro183=) http://identifiers.org/clinvar/184906 ^@ NM_000075.3(CDK4):c.520G>A (p.Val174Met) http://identifiers.org/clinvar/186526 ^@ NM_000075.3(CDK4):c.477delT (p.Phe159Leufs) http://identifiers.org/clinvar/184152 ^@ NM_000075.3(CDK4):c.447A>G (p.Thr149=) http://identifiers.org/clinvar/187472 ^@ NM_000075.3(CDK4):c.381C>T (p.Gly127=) http://identifiers.org/clinvar/184409 ^@ NM_000075.3(CDK4):c.306A>G (p.Thr102=) http://identifiers.org/clinvar/186686 ^@ NM_000075.3(CDK4):c.84T>C (p.Ser28=) http://identifiers.org/clinvar/186740 ^@ NM_000075.3(CDK4):c.42C>T (p.Val14=) http://identifiers.org/clinvar/187296 ^@ NM_000059.3(BRCA2):c.11G>C (p.Gly4Ala) http://identifiers.org/clinvar/184405 ^@ NM_000059.3(BRCA2):c.27A>G (p.Pro9=) http://identifiers.org/clinvar/186603 ^@ NM_000059.3(BRCA2):c.28A>G (p.Thr10Ala) http://identifiers.org/clinvar/184598 ^@ NM_000059.3(BRCA2):c.52C>T (p.Arg18Cys) http://identifiers.org/clinvar/184893 ^@ NM_000059.3(BRCA2):c.68-3T>G http://identifiers.org/clinvar/187538 ^@ NM_000059.3(BRCA2):c.68-2A>G http://identifiers.org/clinvar/184029 ^@ NM_000059.3(BRCA2):c.90T>C (p.Asn30=) http://identifiers.org/clinvar/185211 ^@ NM_000059.3(BRCA2):c.93G>C (p.Trp31Cys) http://identifiers.org/clinvar/184823 ^@ NM_000059.3(BRCA2):c.122C>T (p.Pro41Leu) http://identifiers.org/clinvar/184911 ^@ NM_000059.3(BRCA2):c.123C>G (p.Pro41=) http://identifiers.org/clinvar/184579 ^@ NM_000059.3(BRCA2):c.183A>G (p.Leu61=) http://identifiers.org/clinvar/185098 ^@ NM_000059.3(BRCA2):c.273C>T (p.Tyr91=) http://identifiers.org/clinvar/185084 ^@ NM_000059.3(BRCA2):c.316G>A (p.Gly106Arg) http://identifiers.org/clinvar/185890 ^@ NM_000059.3(BRCA2):c.316+1G>T http://identifiers.org/clinvar/184303 ^@ NM_000059.3(BRCA2):c.324T>C (p.Asn108=) http://identifiers.org/clinvar/186582 ^@ NM_000059.3(BRCA2):c.339A>G (p.Arg113=) http://identifiers.org/clinvar/184648 ^@ NM_000059.3(BRCA2):c.378A>G (p.Gln126=) http://identifiers.org/clinvar/187094 ^@ NM_000059.3(BRCA2):c.379G>A (p.Ala127Thr) http://identifiers.org/clinvar/186118 ^@ NM_000059.3(BRCA2):c.381A>G (p.Ala127=) http://identifiers.org/clinvar/185208 ^@ NM_000059.3(BRCA2):c.397C>A (p.Pro133Thr) http://identifiers.org/clinvar/187244 ^@ NM_000059.3(BRCA2):c.425+4T>G http://identifiers.org/clinvar/184705 ^@ NM_000059.3(BRCA2):c.459A>C (p.Pro153=) http://identifiers.org/clinvar/184419 ^@ NM_000059.3(BRCA2):c.493T>C (p.Phe165Leu) http://identifiers.org/clinvar/186091 ^@ NM_000059.3(BRCA2):c.545A>G (p.Glu182Gly) http://identifiers.org/clinvar/185415 ^@ NM_000059.3(BRCA2):c.593_596delTAGCinsAGG (p.Leu198Terfs) http://identifiers.org/clinvar/185207 ^@ NM_000059.3(BRCA2):c.604C>T (p.Pro202Ser) http://identifiers.org/clinvar/186155 ^@ NM_000059.3(BRCA2):c.620C>T (p.Thr207Ile) http://identifiers.org/clinvar/185119 ^@ NM_000059.3(BRCA2):c.627C>A (p.Leu209=) http://identifiers.org/clinvar/185781 ^@ NM_000059.3(BRCA2):c.632-3C>A http://identifiers.org/clinvar/187739 ^@ NM_000059.3(BRCA2):c.639T>A (p.Asn213Lys) http://identifiers.org/clinvar/184021 ^@ NM_000059.3(BRCA2):c.708T>C (p.His236=) http://identifiers.org/clinvar/185997 ^@ NM_000059.3(BRCA2):c.756C>T (p.Asp252=) http://identifiers.org/clinvar/185584 ^@ NM_000059.3(BRCA2):c.774_780delAAGAGAAinsT (p.Gln258_Glu260delinsHis) http://identifiers.org/clinvar/186230 ^@ NM_000059.3(BRCA2):c.799G>T (p.Gly267Ter) http://identifiers.org/clinvar/184826 ^@ NM_000059.3(BRCA2):c.807A>G (p.Thr269=) http://identifiers.org/clinvar/184667 ^@ NM_000059.3(BRCA2):c.819A>G (p.Ser273=) http://identifiers.org/clinvar/184315 ^@ NM_000059.3(BRCA2):c.867T>C (p.Asn289=) http://identifiers.org/clinvar/187641 ^@ NM_000059.3(BRCA2):c.897T>C (p.Val299=) http://identifiers.org/clinvar/184704 ^@ NM_000059.3(BRCA2):c.918T>C (p.Asp306=) http://identifiers.org/clinvar/186501 ^@ NM_000059.3(BRCA2):c.981G>A (p.Lys327=) http://identifiers.org/clinvar/186064 ^@ NM_000059.3(BRCA2):c.1026A>G (p.Glu342=) http://identifiers.org/clinvar/185263 ^@ NM_000059.3(BRCA2):c.1037A>T (p.Asn346Ile) http://identifiers.org/clinvar/187583 ^@ NM_000059.3(BRCA2):c.1040A>C (p.Gln347Pro) http://identifiers.org/clinvar/186166 ^@ NM_000059.3(BRCA2):c.1041A>G (p.Gln347=) http://identifiers.org/clinvar/185121 ^@ NM_000059.3(BRCA2):c.1044G>A (p.Val348=) http://identifiers.org/clinvar/187741 ^@ NM_000059.3(BRCA2):c.1054T>C (p.Tyr352His) http://identifiers.org/clinvar/185001 ^@ NM_000059.3(BRCA2):c.1056C>T (p.Tyr352=) http://identifiers.org/clinvar/186628 ^@ NM_000059.3(BRCA2):c.1131G>C (p.Glu377Asp) http://identifiers.org/clinvar/186223 ^@ NM_000059.3(BRCA2):c.1163_1166dupTACC (p.Ser390Thrfs) http://identifiers.org/clinvar/184355 ^@ NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) http://identifiers.org/clinvar/184036 ^@ NM_000059.3(BRCA2):c.1179T>C (p.Cys393=) http://identifiers.org/clinvar/184423 ^@ NM_000059.3(BRCA2):c.1197C>G (p.Thr399=) http://identifiers.org/clinvar/187406 ^@ NM_000059.3(BRCA2):c.1246A>G (p.Ile416Val) http://identifiers.org/clinvar/184739 ^@ NM_000059.3(BRCA2):c.1259A>G (p.Asp420Gly) http://identifiers.org/clinvar/187152 ^@ NM_000059.3(BRCA2):c.1273G>A (p.Glu425Lys) http://identifiers.org/clinvar/187437 ^@ NM_000059.3(BRCA2):c.1282C>A (p.Leu428Ile) http://identifiers.org/clinvar/184288 ^@ NM_000059.3(BRCA2):c.1293A>G (p.Thr431=) http://identifiers.org/clinvar/185130 ^@ NM_000059.3(BRCA2):c.1308_1309delGA (p.Lys437Argfs) http://identifiers.org/clinvar/185685 ^@ NM_000059.3(BRCA2):c.1334C>A (p.Ser445Tyr) http://identifiers.org/clinvar/184119 ^@ NM_000059.3(BRCA2):c.1354C>T (p.Leu452=) http://identifiers.org/clinvar/185816 ^@ NM_000059.3(BRCA2):c.1371G>A (p.Lys457=) http://identifiers.org/clinvar/185897 ^@ NM_000059.3(BRCA2):c.1397A>G (p.Asn466Ser) http://identifiers.org/clinvar/186423 ^@ NM_000059.3(BRCA2):c.1403G>A (p.Arg468Lys) http://identifiers.org/clinvar/184367 ^@ NM_000059.3(BRCA2):c.1452A>G (p.Val484=) http://identifiers.org/clinvar/186393 ^@ NM_000059.3(BRCA2):c.1478C>T (p.Pro493Leu) http://identifiers.org/clinvar/185478 ^@ NM_000059.3(BRCA2):c.1481T>C (p.Val494Ala) http://identifiers.org/clinvar/186512 ^@ NM_000059.3(BRCA2):c.1510T>C (p.Ser504Pro) http://identifiers.org/clinvar/186550 ^@ NM_000059.3(BRCA2):c.1543A>G (p.Thr515Ala) http://identifiers.org/clinvar/185398 ^@ NM_000059.3(BRCA2):c.1544C>T (p.Thr515Ile) http://identifiers.org/clinvar/185418 ^@ NM_000059.3(BRCA2):c.1545T>C (p.Thr515=) http://identifiers.org/clinvar/185180 ^@ NM_000059.3(BRCA2):c.1552delG (p.Ala518Glnfs) http://identifiers.org/clinvar/184477 ^@ NM_000059.3(BRCA2):c.1554A>T (p.Ala518=) http://identifiers.org/clinvar/185899 ^@ NM_000059.3(BRCA2):c.1569T>C (p.His523=) http://identifiers.org/clinvar/187157 ^@ NM_000059.3(BRCA2):c.1598C>T (p.Thr533Ile) http://identifiers.org/clinvar/186449 ^@ NM_000059.3(BRCA2):c.1627C>T (p.His543Tyr) http://identifiers.org/clinvar/187345 ^@ NM_000059.3(BRCA2):c.1641A>G (p.Ser547=) http://identifiers.org/clinvar/187398 ^@ NM_000059.3(BRCA2):c.1646A>G (p.Lys549Arg) http://identifiers.org/clinvar/184223 ^@ NM_000059.3(BRCA2):c.1659A>G (p.Leu553=) http://identifiers.org/clinvar/185406 ^@ NM_000059.3(BRCA2):c.1660T>G (p.Cys554Gly) http://identifiers.org/clinvar/185407 ^@ NM_000059.3(BRCA2):c.1669T>A (p.Leu557Ile) http://identifiers.org/clinvar/186910 ^@ NM_000059.3(BRCA2):c.1760C>G (p.Thr587Arg) http://identifiers.org/clinvar/187202 ^@ NM_000059.3(BRCA2):c.1771A>G (p.Ile591Val) http://identifiers.org/clinvar/183776 ^@ NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) http://identifiers.org/clinvar/185457 ^@ NM_000059.3(BRCA2):c.1824C>G (p.Asp608Glu) http://identifiers.org/clinvar/186184 ^@ NM_000059.3(BRCA2):c.1855delC (p.Gln619Serfs) http://identifiers.org/clinvar/186698 ^@ NM_000059.3(BRCA2):c.1880C>G (p.Ala627Gly) http://identifiers.org/clinvar/185052 ^@ NM_000059.3(BRCA2):c.1908A>G (p.Ser636=) http://identifiers.org/clinvar/185669 ^@ NM_000059.3(BRCA2):c.1922C>T (p.Ser641Phe) http://identifiers.org/clinvar/187587 ^@ NM_000059.3(BRCA2):c.1960G>T (p.Glu654Ter) http://identifiers.org/clinvar/185652 ^@ NM_000059.3(BRCA2):c.1988T>C (p.Phe663Ser) http://identifiers.org/clinvar/184412 ^@ NM_000059.3(BRCA2):c.2004G>A (p.Arg668=) http://identifiers.org/clinvar/184028 ^@ NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) http://identifiers.org/clinvar/185994 ^@ NM_000059.3(BRCA2):c.2035A>T (p.Asn679Tyr) http://identifiers.org/clinvar/186684 ^@ NM_000059.3(BRCA2):c.2043A>G (p.Val681=) http://identifiers.org/clinvar/184623 ^@ NM_000059.3(BRCA2):c.2109C>T (p.Thr703=) http://identifiers.org/clinvar/184775 ^@ NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) http://identifiers.org/clinvar/185999 ^@ NM_000059.3(BRCA2):c.2133C>T (p.Cys711=) http://identifiers.org/clinvar/183871 ^@ NM_000059.3(BRCA2):c.2175A>G (p.Lys725=) http://identifiers.org/clinvar/184287 ^@ NM_000059.3(BRCA2):c.2211A>G (p.Ala737=) http://identifiers.org/clinvar/185181 ^@ NM_000059.3(BRCA2):c.2224C>A (p.Gln742Lys) http://identifiers.org/clinvar/184184 ^@ NM_000059.3(BRCA2):c.2226A>G (p.Gln742=) http://identifiers.org/clinvar/187129 ^@ NM_000059.3(BRCA2):c.2231C>T (p.Ser744Leu) http://identifiers.org/clinvar/186565 ^@ NM_000059.3(BRCA2):c.2248G>C (p.Asp750His) http://identifiers.org/clinvar/184350 ^@ NM_000059.3(BRCA2):c.2256C>T (p.Asp752=) http://identifiers.org/clinvar/184404 ^@ NM_000059.3(BRCA2):c.2274T>C (p.Ser758=) http://identifiers.org/clinvar/185503 ^@ NM_000059.3(BRCA2):c.2286T>C (p.Asp762=) http://identifiers.org/clinvar/185230 ^@ NM_000059.3(BRCA2):c.2330A>G (p.Asp777Gly) http://identifiers.org/clinvar/187537 ^@ NM_000059.3(BRCA2):c.2348T>G (p.Val783Gly) http://identifiers.org/clinvar/187316 ^@ NM_000059.3(BRCA2):c.2380A>G (p.Met794Val) http://identifiers.org/clinvar/187546 ^@ NM_000059.3(BRCA2):c.2443A>G (p.Met815Val) http://identifiers.org/clinvar/186256 ^@ NM_000059.3(BRCA2):c.2489A>G (p.Asn830Ser) http://identifiers.org/clinvar/187581 ^@ NM_000059.3(BRCA2):c.2490C>T (p.Asn830=) http://identifiers.org/clinvar/186345 ^@ NM_000059.3(BRCA2):c.2494G>T (p.Glu832Ter) http://identifiers.org/clinvar/184465 ^@ NM_000059.3(BRCA2):c.2496G>A (p.Glu832=) http://identifiers.org/clinvar/185410 ^@ NM_000059.3(BRCA2):c.2526A>G (p.Val842=) http://identifiers.org/clinvar/185347 ^@ NM_000059.3(BRCA2):c.2545G>T (p.Val849Leu) http://identifiers.org/clinvar/185306 ^@ NM_000059.3(BRCA2):c.2578A>G (p.Ile860Val) http://identifiers.org/clinvar/187740 ^@ NM_000059.3(BRCA2):c.2612C>G (p.Ser871Ter) http://identifiers.org/clinvar/187468 ^@ NM_000059.3(BRCA2):c.2629C>T (p.Pro877Ser) http://identifiers.org/clinvar/187322 ^@ NM_000059.3(BRCA2):c.2679A>G (p.Gln893=) http://identifiers.org/clinvar/186564 ^@ NM_000059.3(BRCA2):c.2683G>A (p.Ala895Thr) http://identifiers.org/clinvar/186909 ^@ NM_000059.3(BRCA2):c.2683G>T (p.Ala895Ser) http://identifiers.org/clinvar/184698 ^@ NM_000059.3(BRCA2):c.2703T>A (p.Leu901=) http://identifiers.org/clinvar/186457 ^@ NM_000059.3(BRCA2):c.2704G>C (p.Ala902Pro) http://identifiers.org/clinvar/185531 ^@ NM_000059.3(BRCA2):c.2723A>C (p.Glu908Ala) http://identifiers.org/clinvar/186229 ^@ NM_000059.3(BRCA2):c.2744C>G (p.Thr915Ser) http://identifiers.org/clinvar/184041 ^@ NM_000059.3(BRCA2):c.2751A>G (p.Val917=) http://identifiers.org/clinvar/185351 ^@ NM_000059.3(BRCA2):c.2754C>T (p.Asn918=) http://identifiers.org/clinvar/184978 ^@ NM_000059.3(BRCA2):c.2779A>G (p.Met927Val) http://identifiers.org/clinvar/184175 ^@ NM_000059.3(BRCA2):c.2793A>G (p.Gly931=) http://identifiers.org/clinvar/184871 ^@ NM_000059.3(BRCA2):c.2807A>G (p.Lys936Arg) http://identifiers.org/clinvar/186294 ^@ NM_000059.3(BRCA2):c.2817C>T (p.Thr939=) http://identifiers.org/clinvar/185394 ^@ NM_000059.3(BRCA2):c.2881C>G (p.Gln961Glu) http://identifiers.org/clinvar/186253 ^@ NM_000059.3(BRCA2):c.2886T>C (p.His962=) http://identifiers.org/clinvar/185688 ^@ NM_000059.3(BRCA2):c.2898T>C (p.Thr966=) http://identifiers.org/clinvar/185423 ^@ NM_000059.3(BRCA2):c.2900T>C (p.Leu967Pro) http://identifiers.org/clinvar/187256 ^@ NM_000059.3(BRCA2):c.3003A>T (p.Ser1001=) http://identifiers.org/clinvar/184600 ^@ NM_000059.3(BRCA2):c.3051C>T (p.Ile1017=) http://identifiers.org/clinvar/185691 ^@ NM_000059.3(BRCA2):c.3068A>G (p.Asn1023Ser) http://identifiers.org/clinvar/187582 ^@ NM_000059.3(BRCA2):c.3071_3073delTTA (p.Ile1024del) http://identifiers.org/clinvar/186456 ^@ NM_000059.3(BRCA2):c.3111A>G (p.Gln1037=) http://identifiers.org/clinvar/187185 ^@ NM_000059.3(BRCA2):c.3180C>T (p.Ser1060=) http://identifiers.org/clinvar/187407 ^@ NM_000059.3(BRCA2):c.3199A>G (p.Thr1067Ala) http://identifiers.org/clinvar/184180 ^@ NM_000059.3(BRCA2):c.3225T>C (p.Ser1075=) http://identifiers.org/clinvar/185945 ^@ NM_000059.3(BRCA2):c.3304A>C (p.Asn1102His) http://identifiers.org/clinvar/187760 ^@ NM_000059.3(BRCA2):c.3309A>G (p.Leu1103=) http://identifiers.org/clinvar/186927 ^@ NM_000059.3(BRCA2):c.3353_3355delTAG (p.Leu1118_Lys1453delinsTer) http://identifiers.org/clinvar/186983 ^@ NM_000059.3(BRCA2):c.3354A>G (p.Leu1118=) http://identifiers.org/clinvar/185422 ^@ NM_000059.3(BRCA2):c.3365delG (p.Gly1122Glufs) http://identifiers.org/clinvar/186459 ^@ NM_000059.3(BRCA2):c.3383C>T (p.Thr1128Ile) http://identifiers.org/clinvar/185755 ^@ NM_000059.3(BRCA2):c.3397C>T (p.Pro1133Ser) http://identifiers.org/clinvar/185486 ^@ NM_000059.3(BRCA2):c.3461C>T (p.Thr1154Ile) http://identifiers.org/clinvar/186024 ^@ NM_000059.3(BRCA2):c.3462C>G (p.Thr1154=) http://identifiers.org/clinvar/184176 ^@ NM_000059.3(BRCA2):c.3462C>T (p.Thr1154=) http://identifiers.org/clinvar/187721 ^@ NM_000059.3(BRCA2):c.3495T>C (p.His1165=) http://identifiers.org/clinvar/186700 ^@ NM_000059.3(BRCA2):c.3497T>A (p.Val1166Asp) http://identifiers.org/clinvar/185420 ^@ NM_000059.3(BRCA2):c.3532A>G (p.Ser1178Gly) http://identifiers.org/clinvar/185827 ^@ NM_000059.3(BRCA2):c.3553A>G (p.Thr1185Ala) http://identifiers.org/clinvar/186964 ^@ NM_000059.3(BRCA2):c.3600T>C (p.Cys1200=) http://identifiers.org/clinvar/186489 ^@ NM_000059.3(BRCA2):c.3630T>C (p.Asp1210=) http://identifiers.org/clinvar/187469 ^@ NM_000059.3(BRCA2):c.3667C>T (p.His1223Tyr) http://identifiers.org/clinvar/186291 ^@ NM_000059.3(BRCA2):c.3683A>G (p.Asn1228Ser) http://identifiers.org/clinvar/187187 ^@ NM_000059.3(BRCA2):c.3685G>A (p.Val1229Ile) http://identifiers.org/clinvar/184343 ^@ NM_000059.3(BRCA2):c.3711T>C (p.Ala1237=) http://identifiers.org/clinvar/185331 ^@ NM_000059.3(BRCA2):c.3730A>G (p.Ile1244Val) http://identifiers.org/clinvar/184867 ^@ NM_000059.3(BRCA2):c.3762G>A (p.Glu1254=) http://identifiers.org/clinvar/184757 ^@ NM_000059.3(BRCA2):c.3771A>G (p.Pro1257=) http://identifiers.org/clinvar/187186 ^@ NM_000059.3(BRCA2):c.3836dupA (p.Asn1279Lysfs) http://identifiers.org/clinvar/184196 ^@ NM_000059.3(BRCA2):c.3840T>C (p.Asp1280=) http://identifiers.org/clinvar/185122 ^@ NM_000059.3(BRCA2):c.3865A>G (p.Lys1289Glu) http://identifiers.org/clinvar/184035 ^@ NM_000059.3(BRCA2):c.3880T>C (p.Leu1294=) http://identifiers.org/clinvar/186508 ^@ NM_000059.3(BRCA2):c.3894T>A (p.Ile1298=) http://identifiers.org/clinvar/184832 ^@ NM_000059.3(BRCA2):c.3930T>C (p.Thr1310=) http://identifiers.org/clinvar/186966 ^@ NM_000059.3(BRCA2):c.3987A>T (p.Arg1329Ser) http://identifiers.org/clinvar/184439 ^@ NM_000059.3(BRCA2):c.4062G>A (p.Thr1354=) http://identifiers.org/clinvar/185175 ^@ NM_000059.3(BRCA2):c.4101A>G (p.Lys1367=) http://identifiers.org/clinvar/186065 ^@ NM_000059.3(BRCA2):c.4109G>C (p.Gly1370Ala) http://identifiers.org/clinvar/187108 ^@ NM_000059.3(BRCA2):c.4116T>G (p.Phe1372Leu) http://identifiers.org/clinvar/187258 ^@ NM_000059.3(BRCA2):c.4152G>A (p.Leu1384=) http://identifiers.org/clinvar/184549 ^@ NM_000059.3(BRCA2):c.4179G>A (p.Ala1393=) http://identifiers.org/clinvar/186940 ^@ NM_000059.3(BRCA2):c.4211_4215delCAAAT (p.Ser1404Terfs) http://identifiers.org/clinvar/186334 ^@ NM_000059.3(BRCA2):c.4216_4218delAAA (p.Lys1406del) http://identifiers.org/clinvar/186914 ^@ NM_000059.3(BRCA2):c.4232C>G (p.Ala1411Gly) http://identifiers.org/clinvar/184218 ^@ NM_000059.3(BRCA2):c.4242G>T (p.Thr1414=) http://identifiers.org/clinvar/183848 ^@ NM_000059.3(BRCA2):c.4245G>A (p.Glu1415=) http://identifiers.org/clinvar/185745 ^@ NM_000059.3(BRCA2):c.4246C>T (p.Gln1416Ter) http://identifiers.org/clinvar/185043 ^@ NM_000059.3(BRCA2):c.4248A>G (p.Gln1416=) http://identifiers.org/clinvar/184800 ^@ NM_000059.3(BRCA2):c.4263T>C (p.Phe1421=) http://identifiers.org/clinvar/184283 ^@ NM_000059.3(BRCA2):c.4269T>C (p.Thr1423=) http://identifiers.org/clinvar/184517 ^@ NM_000059.3(BRCA2):c.4293A>G (p.Ala1431=) http://identifiers.org/clinvar/186343 ^@ NM_000059.3(BRCA2):c.4312G>A (p.Val1438Ile) http://identifiers.org/clinvar/186877 ^@ NM_000059.3(BRCA2):c.4333A>G (p.Lys1445Glu) http://identifiers.org/clinvar/184611 ^@ NM_000059.3(BRCA2):c.4369T>C (p.Leu1457=) http://identifiers.org/clinvar/184037 ^@ NM_000059.3(BRCA2):c.4371G>A (p.Leu1457=) http://identifiers.org/clinvar/187580 ^@ NM_000059.3(BRCA2):c.4410A>C (p.Ile1470=) http://identifiers.org/clinvar/185249 ^@ NM_000059.3(BRCA2):c.4410_4412delAAGinsCAT (p.Arg1471Ile) http://identifiers.org/clinvar/187579 ^@ NM_000059.3(BRCA2):c.4412G>T (p.Arg1471Ile) http://identifiers.org/clinvar/184342 ^@ NM_000059.3(BRCA2):c.4434A>G (p.Leu1478=) http://identifiers.org/clinvar/184236 ^@ NM_000059.3(BRCA2):c.4461A>G (p.Lys1487=) http://identifiers.org/clinvar/187450 ^@ NM_000059.3(BRCA2):c.4464C>A (p.His1488Gln) http://identifiers.org/clinvar/187125 ^@ NM_000059.3(BRCA2):c.4477_4478delGA (p.Glu1493Lysfs) http://identifiers.org/clinvar/184407 ^@ NM_000059.3(BRCA2):c.4494T>A (p.Gly1498=) http://identifiers.org/clinvar/186478 ^@ NM_000059.3(BRCA2):c.4546A>C (p.Ile1516Leu) http://identifiers.org/clinvar/185047 ^@ NM_000059.3(BRCA2):c.4561C>T (p.Leu1521=) http://identifiers.org/clinvar/184353 ^@ NM_000059.3(BRCA2):c.4578A>G (p.Thr1526=) http://identifiers.org/clinvar/184855 ^@ NM_000059.3(BRCA2):c.4608G>A (p.Lys1536=) http://identifiers.org/clinvar/185609 ^@ NM_000059.3(BRCA2):c.4611A>C (p.Glu1537Asp) http://identifiers.org/clinvar/184567 ^@ NM_000059.3(BRCA2):c.4677T>C (p.Phe1559=) http://identifiers.org/clinvar/186633 ^@ NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) http://identifiers.org/clinvar/185126 ^@ NM_000059.3(BRCA2):c.4699C>T (p.Leu1567=) http://identifiers.org/clinvar/184480 ^@ NM_000059.3(BRCA2):c.4725C>T (p.Asp1575=) http://identifiers.org/clinvar/186987 ^@ NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr) http://identifiers.org/clinvar/185254 ^@ NM_000059.3(BRCA2):c.4767A>G (p.Pro1589=) http://identifiers.org/clinvar/183953 ^@ NM_000059.3(BRCA2):c.4784A>C (p.Gln1595Pro) http://identifiers.org/clinvar/184842 ^@ NM_000059.3(BRCA2):c.4791T>C (p.Ser1597=) http://identifiers.org/clinvar/186113 ^@ NM_000059.3(BRCA2):c.4795A>G (p.Asn1599Asp) http://identifiers.org/clinvar/183942 ^@ NM_000059.3(BRCA2):c.4813G>A (p.Val1605Ile) http://identifiers.org/clinvar/186879 ^@ NM_000059.3(BRCA2):c.4830G>T (p.Val1610=) http://identifiers.org/clinvar/185574 ^@ NM_000059.3(BRCA2):c.4858T>C (p.Leu1620=) http://identifiers.org/clinvar/184284 ^@ NM_000059.3(BRCA2):c.4881C>G (p.Leu1627=) http://identifiers.org/clinvar/187127 ^@ NM_000059.3(BRCA2):c.4914dupA (p.Val1639Serfs) http://identifiers.org/clinvar/185525 ^@ NM_000059.3(BRCA2):c.4942G>A (p.Ala1648Thr) http://identifiers.org/clinvar/186255 ^@ NM_000059.3(BRCA2):c.4969A>C (p.Asn1657His) http://identifiers.org/clinvar/185266 ^@ NM_000059.3(BRCA2):c.4986A>C (p.Ser1662=) http://identifiers.org/clinvar/184360 ^@ NM_000059.3(BRCA2):c.5023T>C (p.Cys1675Arg) http://identifiers.org/clinvar/186066 ^@ NM_000059.3(BRCA2):c.5025T>C (p.Cys1675=) http://identifiers.org/clinvar/187418 ^@ NM_000059.3(BRCA2):c.5026A>C (p.Ser1676Arg) http://identifiers.org/clinvar/186231 ^@ NM_000059.3(BRCA2):c.5080A>G (p.Arg1694Gly) http://identifiers.org/clinvar/187482 ^@ NM_000059.3(BRCA2):c.5081G>C (p.Arg1694Thr) http://identifiers.org/clinvar/185662 ^@ NM_000059.3(BRCA2):c.5120C>T (p.Thr1707Ile) http://identifiers.org/clinvar/186288 ^@ NM_000059.3(BRCA2):c.5126A>C (p.Asp1709Ala) http://identifiers.org/clinvar/185482 ^@ NM_000059.3(BRCA2):c.5195T>C (p.Leu1732Pro) http://identifiers.org/clinvar/185896 ^@ NM_000059.3(BRCA2):c.5200G>A (p.Glu1734Lys) http://identifiers.org/clinvar/183996 ^@ NM_000059.3(BRCA2):c.5217T>C (p.Tyr1739=) http://identifiers.org/clinvar/186936 ^@ NM_000059.3(BRCA2):c.5220A>C (p.Leu1740Phe) http://identifiers.org/clinvar/186235 ^@ NM_000059.3(BRCA2):c.5221_5225delAGTAAinsC (p.Ser1741Profs) http://identifiers.org/clinvar/185479 ^@ NM_000059.3(BRCA2):c.5233A>G (p.Met1745Val) http://identifiers.org/clinvar/184997 ^@ NM_000059.3(BRCA2):c.5265G>A (p.Glu1755=) http://identifiers.org/clinvar/185693 ^@ NM_000059.3(BRCA2):c.5272_5274delAAT (p.Asn1758del) http://identifiers.org/clinvar/187575 ^@ NM_000059.3(BRCA2):c.5321C>T (p.Pro1774Leu) http://identifiers.org/clinvar/185362 ^@ NM_000059.3(BRCA2):c.5345A>C (p.Gln1782Pro) http://identifiers.org/clinvar/185709 ^@ NM_000059.3(BRCA2):c.5353A>G (p.Thr1785Ala) http://identifiers.org/clinvar/185697 ^@ NM_000059.3(BRCA2):c.5353delA (p.Thr1785Leufs) http://identifiers.org/clinvar/185699 ^@ NM_000059.3(BRCA2):c.5379T>C (p.Asn1793=) http://identifiers.org/clinvar/184431 ^@ NM_000059.3(BRCA2):c.5490C>T (p.Ser1830=) http://identifiers.org/clinvar/187597 ^@ NM_000059.3(BRCA2):c.5496dupT (p.Asn1833Terfs) http://identifiers.org/clinvar/185203 ^@ NM_000059.3(BRCA2):c.5535G>C (p.Arg1845Ser) http://identifiers.org/clinvar/185708 ^@ NM_000059.3(BRCA2):c.5537T>C (p.Ile1846Thr) http://identifiers.org/clinvar/184063 ^@ NM_000059.3(BRCA2):c.5553C>T (p.Ile1851=) http://identifiers.org/clinvar/186254 ^@ NM_000059.3(BRCA2):c.5591A>G (p.Asp1864Gly) http://identifiers.org/clinvar/185421 ^@ NM_000059.3(BRCA2):c.5626G>A (p.Glu1876Lys) http://identifiers.org/clinvar/184553 ^@ NM_000059.3(BRCA2):c.5631C>T (p.Asn1877=) http://identifiers.org/clinvar/184090 ^@ NM_000059.3(BRCA2):c.5634C>T (p.Asn1878=) http://identifiers.org/clinvar/185961 ^@ NM_000059.3(BRCA2):c.5635G>T (p.Glu1879Ter) http://identifiers.org/clinvar/187088 ^@ NM_000059.3(BRCA2):c.5652T>C (p.Ile1884=) http://identifiers.org/clinvar/185995 ^@ NM_000059.3(BRCA2):c.5659A>G (p.Thr1887Ala) http://identifiers.org/clinvar/187720 ^@ NM_000059.3(BRCA2):c.5674G>A (p.Gly1892Ser) http://identifiers.org/clinvar/186838 ^@ NM_000059.3(BRCA2):c.5677T>G (p.Cys1893Gly) http://identifiers.org/clinvar/184134 ^@ NM_000059.3(BRCA2):c.5688A>G (p.Ala1896=) http://identifiers.org/clinvar/187227 ^@ NM_000059.3(BRCA2):c.5697T>C (p.Asp1899=) http://identifiers.org/clinvar/187246 ^@ NM_000059.3(BRCA2):c.5702A>T (p.Glu1901Val) http://identifiers.org/clinvar/187744 ^@ NM_000059.3(BRCA2):c.5704G>T (p.Asp1902Tyr) http://identifiers.org/clinvar/187375 ^@ NM_000059.3(BRCA2):c.5733T>C (p.Asp1911=) http://identifiers.org/clinvar/184017 ^@ NM_000059.3(BRCA2):c.5745G>A (p.Thr1915=) http://identifiers.org/clinvar/185292 ^@ NM_000059.3(BRCA2):c.5763delT (p.Phe1921Leufs) http://identifiers.org/clinvar/185500 ^@ NM_000059.3(BRCA2):c.5766T>C (p.Ala1922=) http://identifiers.org/clinvar/185452 ^@ NM_000059.3(BRCA2):c.5778T>A (p.Ser1926Arg) http://identifiers.org/clinvar/185956 ^@ NM_000059.3(BRCA2):c.5787T>C (p.Ile1929=) http://identifiers.org/clinvar/185886 ^@ NM_000059.3(BRCA2):c.5792A>G (p.Gln1931Arg) http://identifiers.org/clinvar/184732 ^@ NM_000059.3(BRCA2):c.5793A>G (p.Gln1931=) http://identifiers.org/clinvar/187155 ^@ NM_000059.3(BRCA2):c.5796T>A (p.His1932Gln) http://identifiers.org/clinvar/185665 ^@ NM_000059.3(BRCA2):c.5808G>A (p.Met1936Ile) http://identifiers.org/clinvar/186109 ^@ NM_000059.3(BRCA2):c.5862_5863delTT (p.Ser1955Argfs) http://identifiers.org/clinvar/186232 ^@ NM_000059.3(BRCA2):c.5880T>C (p.Cys1960=) http://identifiers.org/clinvar/184463 ^@ NM_000059.3(BRCA2):c.5895T>C (p.Leu1965=) http://identifiers.org/clinvar/184344 ^@ NM_000059.3(BRCA2):c.5907C>G (p.Val1969=) http://identifiers.org/clinvar/187728 ^@ NM_000059.3(BRCA2):c.5919T>C (p.Asn1973=) http://identifiers.org/clinvar/184515 ^@ NM_000059.3(BRCA2):c.5922T>C (p.Thr1974=) http://identifiers.org/clinvar/184080 ^@ NM_000059.3(BRCA2):c.5928G>T (p.Gly1976=) http://identifiers.org/clinvar/184827 ^@ NM_000059.3(BRCA2):c.5934T>C (p.Phe1978=) http://identifiers.org/clinvar/184841 ^@ NM_000059.3(BRCA2):c.5934dupT (p.Ser1979Terfs) http://identifiers.org/clinvar/184859 ^@ NM_000059.3(BRCA2):c.5952A>G (p.Lys1984=) http://identifiers.org/clinvar/184341 ^@ NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) http://identifiers.org/clinvar/187639 ^@ NM_000059.3(BRCA2):c.5987C>G (p.Ala1996Gly) http://identifiers.org/clinvar/185301 ^@ NM_000059.3(BRCA2):c.5993A>C (p.Gln1998Pro) http://identifiers.org/clinvar/184354 ^@ NM_000059.3(BRCA2):c.6012A>G (p.Glu2004=) http://identifiers.org/clinvar/184197 ^@ NM_000059.3(BRCA2):c.6030C>T (p.Val2010=) http://identifiers.org/clinvar/185748 ^@ NM_000059.3(BRCA2):c.6062A>G (p.His2021Arg) http://identifiers.org/clinvar/184216 ^@ NM_000059.3(BRCA2):c.6078A>G (p.Thr2026=) http://identifiers.org/clinvar/186865 ^@ NM_000059.3(BRCA2):c.6094G>A (p.Ala2032Thr) http://identifiers.org/clinvar/186111 ^@ NM_000059.3(BRCA2):c.6095C>T (p.Ala2032Val) http://identifiers.org/clinvar/186557 ^@ NM_000059.3(BRCA2):c.6113A>G (p.His2038Arg) http://identifiers.org/clinvar/187268 ^@ NM_000059.3(BRCA2):c.6114T>C (p.His2038=) http://identifiers.org/clinvar/185793 ^@ NM_000059.3(BRCA2):c.6155C>A (p.Ser2052Ter) http://identifiers.org/clinvar/187483 ^@ NM_000059.3(BRCA2):c.6160G>A (p.Ala2054Thr) http://identifiers.org/clinvar/185993 ^@ NM_000059.3(BRCA2):c.6192G>A (p.Lys2064=) http://identifiers.org/clinvar/184339 ^@ NM_000059.3(BRCA2):c.6216C>G (p.Ser2072=) http://identifiers.org/clinvar/184468 ^@ NM_000059.3(BRCA2):c.6216C>T (p.Ser2072=) http://identifiers.org/clinvar/185761 ^@ NM_000059.3(BRCA2):c.6253T>G (p.Leu2085Val) http://identifiers.org/clinvar/185754 ^@ NM_000059.3(BRCA2):c.6291G>A (p.Thr2097=) http://identifiers.org/clinvar/187046 ^@ NM_000059.3(BRCA2):c.6367_6370dupGAAA (p.Lys2124Argfs) http://identifiers.org/clinvar/187545 ^@ NM_000059.3(BRCA2):c.6374C>T (p.Thr2125Ile) http://identifiers.org/clinvar/184379 ^@ NM_000059.3(BRCA2):c.6435T>C (p.Asn2145=) http://identifiers.org/clinvar/185224 ^@ NM_000059.3(BRCA2):c.6445A>G (p.Ile2149Val) http://identifiers.org/clinvar/187346 ^@ NM_000059.3(BRCA2):c.6458delC (p.Pro2153Hisfs) http://identifiers.org/clinvar/184876 ^@ NM_000059.3(BRCA2):c.6465C>T (p.Leu2155=) http://identifiers.org/clinvar/186342 ^@ NM_000059.3(BRCA2):c.6467C>T (p.Ser2156Phe) http://identifiers.org/clinvar/186784 ^@ NM_000059.3(BRCA2):c.6475C>T (p.Gln2159Ter) http://identifiers.org/clinvar/184861 ^@ NM_000059.3(BRCA2):c.6482A>G (p.Asp2161Gly) http://identifiers.org/clinvar/185932 ^@ NM_000059.3(BRCA2):c.6497T>C (p.Val2166Ala) http://identifiers.org/clinvar/185694 ^@ NM_000059.3(BRCA2):c.6528C>T (p.Asn2176=) http://identifiers.org/clinvar/186052 ^@ NM_000059.3(BRCA2):c.6531T>C (p.Ile2177=) http://identifiers.org/clinvar/185884 ^@ NM_000059.3(BRCA2):c.6553G>A (p.Ala2185Thr) http://identifiers.org/clinvar/184483 ^@ NM_000059.3(BRCA2):c.6567C>T (p.Asn2189=) http://identifiers.org/clinvar/185938 ^@ NM_000059.3(BRCA2):c.6603T>C (p.Ser2201=) http://identifiers.org/clinvar/185287 ^@ NM_000059.3(BRCA2):c.6624T>C (p.Asn2208=) http://identifiers.org/clinvar/185417 ^@ NM_000059.3(BRCA2):c.6663_6664insAAAG (p.Tyr2222Lysfs) http://identifiers.org/clinvar/187053 ^@ NM_000059.3(BRCA2):c.6674C>A (p.Thr2225Lys) http://identifiers.org/clinvar/187220 ^@ NM_000059.3(BRCA2):c.6691G>A (p.Ala2231Thr) http://identifiers.org/clinvar/185255 ^@ NM_000059.3(BRCA2):c.6693T>C (p.Ala2231=) http://identifiers.org/clinvar/185305 ^@ NM_000059.3(BRCA2):c.6694A>G (p.Lys2232Glu) http://identifiers.org/clinvar/186629 ^@ NM_000059.3(BRCA2):c.6695A>T (p.Lys2232Ile) http://identifiers.org/clinvar/186159 ^@ NM_000059.3(BRCA2):c.6714_6716delTGA (p.Asp2238del) http://identifiers.org/clinvar/185209 ^@ NM_000059.3(BRCA2):c.6724G>A (p.Asp2242Asn) http://identifiers.org/clinvar/184062 ^@ NM_000059.3(BRCA2):c.6738A>G (p.Pro2246=) http://identifiers.org/clinvar/184327 ^@ NM_000059.3(BRCA2):c.6747C>T (p.Ala2249=) http://identifiers.org/clinvar/186392 ^@ NM_000059.3(BRCA2):c.6761T>A (p.Phe2254Tyr) http://identifiers.org/clinvar/185717 ^@ NM_000059.3(BRCA2):c.6765A>G (p.Thr2255=) http://identifiers.org/clinvar/184113 ^@ NM_000059.3(BRCA2):c.6771C>T (p.Pro2257=) http://identifiers.org/clinvar/184513 ^@ NM_000059.3(BRCA2):c.6807T>C (p.Ile2269=) http://identifiers.org/clinvar/185489 ^@ NM_000059.3(BRCA2):c.6829C>T (p.Leu2277Phe) http://identifiers.org/clinvar/184467 ^@ NM_000059.3(BRCA2):c.6831T>C (p.Leu2277=) http://identifiers.org/clinvar/184690 ^@ NM_000059.3(BRCA2):c.6906A>G (p.Lys2302=) http://identifiers.org/clinvar/185063 ^@ NM_000059.3(BRCA2):c.6927C>T (p.Ser2309=) http://identifiers.org/clinvar/184160 ^@ NM_000059.3(BRCA2):c.6969T>C (p.His2323=) http://identifiers.org/clinvar/184053 ^@ NM_000059.3(BRCA2):c.6975T>C (p.Val2325=) http://identifiers.org/clinvar/183969 ^@ NM_000059.3(BRCA2):c.6987G>A (p.Pro2329=) http://identifiers.org/clinvar/185885 ^@ NM_000059.3(BRCA2):c.6995G>A (p.Cys2332Tyr) http://identifiers.org/clinvar/184514 ^@ NM_000059.3(BRCA2):c.6996T>C (p.Cys2332=) http://identifiers.org/clinvar/186292 ^@ NM_000059.3(BRCA2):c.7022G>T (p.Arg2341Leu) http://identifiers.org/clinvar/187200 ^@ NM_000059.3(BRCA2):c.7026delA (p.Glu2343Argfs) http://identifiers.org/clinvar/187126 ^@ NM_000059.3(BRCA2):c.7081C>T (p.His2361Tyr) http://identifiers.org/clinvar/185971 ^@ NM_000059.3(BRCA2):c.7097dupT (p.Thr2367Aspfs) http://identifiers.org/clinvar/186006 ^@ NM_000059.3(BRCA2):c.7119C>T (p.Ser2373=) http://identifiers.org/clinvar/185991 ^@ NM_000059.3(BRCA2):c.7196C>T (p.Thr2399Ile) http://identifiers.org/clinvar/186000 ^@ NM_000059.3(BRCA2):c.7270A>G (p.Arg2424Gly) http://identifiers.org/clinvar/184726 ^@ NM_000059.3(BRCA2):c.7278T>A (p.Ile2426=) http://identifiers.org/clinvar/185484 ^@ NM_000059.3(BRCA2):c.7287G>A (p.Glu2429=) http://identifiers.org/clinvar/186758 ^@ NM_000059.3(BRCA2):c.7299A>G (p.Gln2433=) http://identifiers.org/clinvar/185769 ^@ NM_000059.3(BRCA2):c.7301delA (p.Lys2434Serfs) http://identifiers.org/clinvar/185663 ^@ NM_000059.3(BRCA2):c.7304A>G (p.Gln2435Arg) http://identifiers.org/clinvar/185933 ^@ NM_000059.3(BRCA2):c.7339A>G (p.Asn2447Asp) http://identifiers.org/clinvar/185543 ^@ NM_000059.3(BRCA2):c.7373A>G (p.Asn2458Ser) http://identifiers.org/clinvar/184318 ^@ NM_000059.3(BRCA2):c.7404A>C (p.Val2468=) http://identifiers.org/clinvar/186341 ^@ NM_000059.3(BRCA2):c.7411A>G (p.Thr2471Ala) http://identifiers.org/clinvar/186136 ^@ NM_000059.3(BRCA2):c.7417T>C (p.Cys2473Arg) http://identifiers.org/clinvar/185664 ^@ NM_000059.3(BRCA2):c.7429C>A (p.Pro2477Thr) http://identifiers.org/clinvar/187467 ^@ NM_000059.3(BRCA2):c.7457A>G (p.Asn2486Ser) http://identifiers.org/clinvar/186621 ^@ NM_000059.3(BRCA2):c.7491G>A (p.Lys2497=) http://identifiers.org/clinvar/186586 ^@ NM_000059.3(BRCA2):c.7499G>A (p.Arg2500Lys) http://identifiers.org/clinvar/186878 ^@ NM_000059.3(BRCA2):c.7508T>A (p.Val2503Asp) http://identifiers.org/clinvar/184774 ^@ NM_000059.3(BRCA2):c.7509C>G (p.Val2503=) http://identifiers.org/clinvar/184061 ^@ NM_000059.3(BRCA2):c.7521A>G (p.Pro2507=) http://identifiers.org/clinvar/187168 ^@ NM_000059.3(BRCA2):c.7559G>T (p.Arg2520Leu) http://identifiers.org/clinvar/184689 ^@ NM_000059.3(BRCA2):c.7569G>A (p.Leu2523=) http://identifiers.org/clinvar/186674 ^@ NM_000059.3(BRCA2):c.7573G>A (p.Ala2525Thr) http://identifiers.org/clinvar/185753 ^@ NM_000059.3(BRCA2):c.7590A>C (p.Gln2530His) http://identifiers.org/clinvar/186011 ^@ NM_000059.3(BRCA2):c.7596C>G (p.Pro2532=) http://identifiers.org/clinvar/184502 ^@ NM_000059.3(BRCA2):c.7596C>T (p.Pro2532=) http://identifiers.org/clinvar/184977 ^@ NM_000059.3(BRCA2):c.7602G>A (p.Ala2534=) http://identifiers.org/clinvar/187589 ^@ NM_000059.3(BRCA2):c.7602G>C (p.Ala2534=) http://identifiers.org/clinvar/187112 ^@ NM_000059.3(BRCA2):c.7604G>A (p.Cys2535Tyr) http://identifiers.org/clinvar/185654 ^@ NM_000059.3(BRCA2):c.7638T>C (p.Ser2546=) http://identifiers.org/clinvar/186479 ^@ NM_000059.3(BRCA2):c.7650A>T (p.Ile2550=) http://identifiers.org/clinvar/184155 ^@ NM_000059.3(BRCA2):c.7683G>A (p.Gln2561=) http://identifiers.org/clinvar/187368 ^@ NM_000059.3(BRCA2):c.7718T>G (p.Leu2573Ter) http://identifiers.org/clinvar/185134 ^@ NM_000059.3(BRCA2):c.7720T>C (p.Trp2574Arg) http://identifiers.org/clinvar/184108 ^@ NM_000059.3(BRCA2):c.7749T>C (p.Asp2583=) http://identifiers.org/clinvar/185992 ^@ NM_000059.3(BRCA2):c.7769C>G (p.Ser2590Cys) http://identifiers.org/clinvar/185651 ^@ NM_000059.3(BRCA2):c.7802A>G (p.Tyr2601Cys) http://identifiers.org/clinvar/185875 ^@ NM_000059.3(BRCA2):c.7814G>A (p.Cys2605Tyr) http://identifiers.org/clinvar/184632 ^@ NM_000059.3(BRCA2):c.7830G>A (p.Val2610=) http://identifiers.org/clinvar/185344 ^@ NM_000059.3(BRCA2):c.7901T>C (p.Met2634Thr) http://identifiers.org/clinvar/187565 ^@ NM_000059.3(BRCA2):c.7914T>G (p.Phe2638Leu) http://identifiers.org/clinvar/186007 ^@ NM_000059.3(BRCA2):c.7915C>A (p.Pro2639Thr) http://identifiers.org/clinvar/186112 ^@ NM_000059.3(BRCA2):c.7939C>G (p.Leu2647Val) http://identifiers.org/clinvar/187076 ^@ NM_000059.3(BRCA2):c.7953G>T (p.Arg2651Ser) http://identifiers.org/clinvar/186135 ^@ NM_000059.3(BRCA2):c.7972T>C (p.Tyr2658His) http://identifiers.org/clinvar/183947 ^@ NM_000059.3(BRCA2):c.7976+5G>A http://identifiers.org/clinvar/184086 ^@ NM_000059.3(BRCA2):c.7980T>C (p.Tyr2660=) http://identifiers.org/clinvar/184089 ^@ NM_000059.3(BRCA2):c.7985C>T (p.Thr2662Met) http://identifiers.org/clinvar/184201 ^@ NM_000059.3(BRCA2):c.7989A>G (p.Glu2663=) http://identifiers.org/clinvar/184813 ^@ NM_000059.3(BRCA2):c.8001C>T (p.Ser2667=) http://identifiers.org/clinvar/183981 ^@ NM_000059.3(BRCA2):c.8007A>T (p.Arg2669Ser) http://identifiers.org/clinvar/183837 ^@ NM_000059.3(BRCA2):c.8010G>A (p.Ser2670=) http://identifiers.org/clinvar/185168 ^@ NM_000059.3(BRCA2):c.8011G>T (p.Ala2671Ser) http://identifiers.org/clinvar/184776 ^@ NM_000059.3(BRCA2):c.8061T>C (p.Val2687=) http://identifiers.org/clinvar/186319 ^@ NM_000059.3(BRCA2):c.8086T>C (p.Leu2696=) http://identifiers.org/clinvar/184499 ^@ NM_000059.3(BRCA2):c.8091C>T (p.Ser2697=) http://identifiers.org/clinvar/184162 ^@ NM_000059.3(BRCA2):c.8118T>C (p.Asn2706=) http://identifiers.org/clinvar/184206 ^@ NM_000059.3(BRCA2):c.8157T>C (p.Ile2719=) http://identifiers.org/clinvar/184856 ^@ NM_000059.3(BRCA2):c.8163T>C (p.Leu2721=) http://identifiers.org/clinvar/184718 ^@ NM_000059.3(BRCA2):c.8166A>C (p.Thr2722=) http://identifiers.org/clinvar/187092 ^@ NM_000059.3(BRCA2):c.8181_8189delTGTTAAGGC (p.Val2728_Ala2730del) http://identifiers.org/clinvar/184576 ^@ NM_000059.3(BRCA2):c.8214T>C (p.Ala2738=) http://identifiers.org/clinvar/184870 ^@ NM_000059.3(BRCA2):c.8233C>G (p.Leu2745Val) http://identifiers.org/clinvar/185291 ^@ NM_000059.3(BRCA2):c.8247G>A (p.Gln2749=) http://identifiers.org/clinvar/186962 ^@ NM_000059.3(BRCA2):c.8258T>C (p.Leu2753Pro) http://identifiers.org/clinvar/185461 ^@ NM_000059.3(BRCA2):c.8290G>A (p.Ala2764Thr) http://identifiers.org/clinvar/186355 ^@ NM_000059.3(BRCA2):c.8293T>G (p.Cys2765Gly) http://identifiers.org/clinvar/185163 ^@ NM_000059.3(BRCA2):c.8317T>C (p.Ser2773Pro) http://identifiers.org/clinvar/186858 ^@ NM_000059.3(BRCA2):c.8321T>G (p.Leu2774Arg) http://identifiers.org/clinvar/185300 ^@ NM_000059.3(BRCA2):c.8332-1G>T http://identifiers.org/clinvar/186632 ^@ NM_000059.3(BRCA2):c.8352G>A (p.Arg2784=) http://identifiers.org/clinvar/185579 ^@ NM_000059.3(BRCA2):c.8353C>A (p.Pro2785Thr) http://identifiers.org/clinvar/185253 ^@ NM_000059.3(BRCA2):c.8354C>T (p.Pro2785Leu) http://identifiers.org/clinvar/184836 ^@ NM_000059.3(BRCA2):c.8367T>C (p.Tyr2789=) http://identifiers.org/clinvar/187616 ^@ NM_000059.3(BRCA2):c.8422C>G (p.Leu2808Val) http://identifiers.org/clinvar/186455 ^@ NM_000059.3(BRCA2):c.8427C>T (p.Phe2809=) http://identifiers.org/clinvar/184949 ^@ NM_000059.3(BRCA2):c.8447G>A (p.Gly2816Asp) http://identifiers.org/clinvar/185196 ^@ NM_000059.3(BRCA2):c.8450G>T (p.Cys2817Phe) http://identifiers.org/clinvar/185825 ^@ NM_000059.3(BRCA2):c.8479C>T (p.Pro2827Ser) http://identifiers.org/clinvar/187245 ^@ NM_000059.3(BRCA2):c.8499G>A (p.Lys2833=) http://identifiers.org/clinvar/185477 ^@ NM_000059.3(BRCA2):c.8516A>G (p.Tyr2839Cys) http://identifiers.org/clinvar/185018 ^@ NM_000059.3(BRCA2):c.8544A>T (p.Glu2848Asp) http://identifiers.org/clinvar/184202 ^@ NM_000059.3(BRCA2):c.8562T>C (p.Tyr2854=) http://identifiers.org/clinvar/185880 ^@ NM_000059.3(BRCA2):c.8565G>A (p.Val2855=) http://identifiers.org/clinvar/184422 ^@ NM_000059.3(BRCA2):c.8607T>C (p.Ile2869=) http://identifiers.org/clinvar/186963 ^@ NM_000059.3(BRCA2):c.8633A>G (p.Glu2878Gly) http://identifiers.org/clinvar/185303 ^@ NM_000059.3(BRCA2):c.8649A>G (p.Pro2883=) http://identifiers.org/clinvar/184653 ^@ NM_000059.3(BRCA2):c.8653T>C (p.Leu2885=) http://identifiers.org/clinvar/187110 ^@ NM_000059.3(BRCA2):c.8667A>G (p.Ala2889=) http://identifiers.org/clinvar/184652 ^@ NM_000059.3(BRCA2):c.8694G>A (p.Leu2898=) http://identifiers.org/clinvar/187403 ^@ NM_000059.3(BRCA2):c.8697A>G (p.Gln2899=) http://identifiers.org/clinvar/183979 ^@ NM_000059.3(BRCA2):c.8700T>C (p.Asp2900=) http://identifiers.org/clinvar/185201 ^@ NM_000059.3(BRCA2):c.8739C>G (p.Asp2913Glu) http://identifiers.org/clinvar/186004 ^@ NM_000059.3(BRCA2):c.8829G>A (p.Gln2943=) http://identifiers.org/clinvar/184282 ^@ NM_000059.3(BRCA2):c.8853C>A (p.Ala2951=) http://identifiers.org/clinvar/184773 ^@ NM_000059.3(BRCA2):c.8874G>A (p.Lys2958=) http://identifiers.org/clinvar/186398 ^@ NM_000059.3(BRCA2):c.8875G>T (p.Glu2959Ter) http://identifiers.org/clinvar/187319 ^@ NM_000059.3(BRCA2):c.8901A>G (p.Thr2967=) http://identifiers.org/clinvar/185661 ^@ NM_000059.3(BRCA2):c.8996dupT (p.Leu3000Valfs) http://identifiers.org/clinvar/185746 ^@ NM_000059.3(BRCA2):c.9000A>G (p.Leu3000=) http://identifiers.org/clinvar/184425 ^@ NM_000059.3(BRCA2):c.9012G>A (p.Lys3004=) http://identifiers.org/clinvar/187238 ^@ NM_000059.3(BRCA2):c.9025delT (p.Tyr3009Ilefs) http://identifiers.org/clinvar/185294 ^@ NM_000059.3(BRCA2):c.9052_9057delAGTAAA (p.Lys3019_Ser3020del) http://identifiers.org/clinvar/183975 ^@ NM_000059.3(BRCA2):c.9063A>G (p.Glu3021=) http://identifiers.org/clinvar/185490 ^@ NM_000059.3(BRCA2):c.9106C>A (p.Gln3036Lys) http://identifiers.org/clinvar/186555 ^@ NM_000059.3(BRCA2):c.9108A>G (p.Gln3036=) http://identifiers.org/clinvar/186500 ^@ NM_000059.3(BRCA2):c.9125A>G (p.Asp3042Gly) http://identifiers.org/clinvar/187431 ^@ NM_000059.3(BRCA2):c.9146A>G (p.Tyr3049Cys) http://identifiers.org/clinvar/186525 ^@ NM_000059.3(BRCA2):c.9171C>G (p.Phe3057Leu) http://identifiers.org/clinvar/187734 ^@ NM_000059.3(BRCA2):c.9205T>C (p.Cys3069Arg) http://identifiers.org/clinvar/186691 ^@ NM_000059.3(BRCA2):c.9209C>T (p.Ser3070Phe) http://identifiers.org/clinvar/184636 ^@ NM_000059.3(BRCA2):c.9222A>G (p.Leu3074=) http://identifiers.org/clinvar/187585 ^@ NM_000059.3(BRCA2):c.9262delG (p.Ala3088Profs) http://identifiers.org/clinvar/184910 ^@ NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) http://identifiers.org/clinvar/187011 ^@ NM_000059.3(BRCA2):c.9338T>C (p.Ile3113Thr) http://identifiers.org/clinvar/186524 ^@ NM_000059.3(BRCA2):c.9351T>C (p.His3117=) http://identifiers.org/clinvar/186912 ^@ NM_000059.3(BRCA2):c.9352_9353delAT (p.Met3118Valfs) http://identifiers.org/clinvar/187130 ^@ NM_000059.3(BRCA2):c.9378G>A (p.Gln3126=) http://identifiers.org/clinvar/184747 ^@ NM_000059.3(BRCA2):c.9396A>G (p.Lys3132=) http://identifiers.org/clinvar/183987 ^@ NM_000059.3(BRCA2):c.9411T>G (p.Thr3137=) http://identifiers.org/clinvar/187151 ^@ NM_000059.3(BRCA2):c.9418G>C (p.Ala3140Pro) http://identifiers.org/clinvar/185125 ^@ NM_000059.3(BRCA2):c.9426T>C (p.Asp3142=) http://identifiers.org/clinvar/185206 ^@ NM_000059.3(BRCA2):c.9437T>C (p.Phe3146Ser) http://identifiers.org/clinvar/186126 ^@ NM_000059.3(BRCA2):c.9511A>T (p.Ile3171Leu) http://identifiers.org/clinvar/186429 ^@ NM_000059.3(BRCA2):c.9522_9523delTGinsAT (p.Asn3174_Glu3175delinsLysTer) http://identifiers.org/clinvar/185216 ^@ NM_000059.3(BRCA2):c.9567C>G (p.Pro3189=) http://identifiers.org/clinvar/184365 ^@ NM_000059.3(BRCA2):c.9576C>T (p.Ser3192=) http://identifiers.org/clinvar/184527 ^@ NM_000059.3(BRCA2):c.9603G>A (p.Gly3201=) http://identifiers.org/clinvar/185045 ^@ NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) http://identifiers.org/clinvar/184541 ^@ NM_000059.3(BRCA2):c.9606G>C (p.Pro3202=) http://identifiers.org/clinvar/186499 ^@ NM_000059.3(BRCA2):c.9649A>C (p.Met3217Leu) http://identifiers.org/clinvar/185878 ^@ NM_000059.3(BRCA2):c.9716C>A (p.Ser3239Tyr) http://identifiers.org/clinvar/184214 ^@ NM_000059.3(BRCA2):c.9738C>A (p.Ala3246=) http://identifiers.org/clinvar/186106 ^@ NM_000059.3(BRCA2):c.9758G>A (p.Cys3253Tyr) http://identifiers.org/clinvar/184626 ^@ NM_000059.3(BRCA2):c.9864A>G (p.Thr3288=) http://identifiers.org/clinvar/184027 ^@ NM_000059.3(BRCA2):c.9904A>C (p.Arg3302=) http://identifiers.org/clinvar/187584 ^@ NM_000059.3(BRCA2):c.9906G>T (p.Arg3302Ser) http://identifiers.org/clinvar/183957 ^@ NM_000059.3(BRCA2):c.9945A>G (p.Lys3315=) http://identifiers.org/clinvar/184620 ^@ NM_000059.3(BRCA2):c.9949C>T (p.Leu3317=) http://identifiers.org/clinvar/185824 ^@ NM_000059.3(BRCA2):c.9956C>T (p.Ser3319Phe) http://identifiers.org/clinvar/184729 ^@ NM_000059.3(BRCA2):c.9972A>G (p.Pro3324=) http://identifiers.org/clinvar/185307 ^@ NM_000059.3(BRCA2):c.10022A>G (p.Asp3341Gly) http://identifiers.org/clinvar/184877 ^@ NM_000059.3(BRCA2):c.10023C>T (p.Asp3341=) http://identifiers.org/clinvar/185750 ^@ NM_000059.3(BRCA2):c.10053T>C (p.Ala3351=) http://identifiers.org/clinvar/187022 ^@ NM_000059.3(BRCA2):c.10069A>G (p.Thr3357Ala) http://identifiers.org/clinvar/184484 ^@ NM_000059.3(BRCA2):c.10080A>G (p.Lys3360=) http://identifiers.org/clinvar/184472 ^@ NM_000059.3(BRCA2):c.10085T>C (p.Phe3362Ser) http://identifiers.org/clinvar/185235 ^@ NM_000059.3(BRCA2):c.10116T>G (p.Ala3372=) http://identifiers.org/clinvar/185931 ^@ NM_000059.3(BRCA2):c.10159A>T (p.Thr3387Ser) http://identifiers.org/clinvar/185864 ^@ NM_000059.3(BRCA2):c.10188T>C (p.Ser3396=) http://identifiers.org/clinvar/187059 ^@ NM_000059.3(BRCA2):c.10221T>C (p.Asn3407=) http://identifiers.org/clinvar/186630 ^@ NM_000059.3(BRCA2):c.10226A>G (p.Gln3409Arg) http://identifiers.org/clinvar/187544 ^@ NM_002382.4(MAX):c.339C>A (p.Thr113=) http://identifiers.org/clinvar/186993 ^@ NM_002382.4(MAX):c.295+1G>A http://identifiers.org/clinvar/187372 ^@ NM_002382.4(MAX):c.279T>C (p.Ala93=) http://identifiers.org/clinvar/185646 ^@ NM_002382.4(MAX):c.200C>A (p.Ala67Asp) http://identifiers.org/clinvar/186517 ^@ NM_002382.4(MAX):c.171+2T>A http://identifiers.org/clinvar/184186 ^@ NM_000548.4(TSC2):c.560A>G (p.Asn187Ser) http://identifiers.org/clinvar/184164 ^@ NM_000548.4(TSC2):c.628G>A (p.Ala210Thr) http://identifiers.org/clinvar/187388 ^@ NM_000548.4(TSC2):c.629C>T (p.Ala210Val) http://identifiers.org/clinvar/184237 ^@ NM_000548.4(TSC2):c.708C>T (p.Leu236=) http://identifiers.org/clinvar/184603 ^@ NM_000548.4(TSC2):c.775-4G>A http://identifiers.org/clinvar/184662 ^@ NM_000548.4(TSC2):c.837C>T (p.Leu279=) http://identifiers.org/clinvar/186143 ^@ NM_000548.4(TSC2):c.934C>G (p.Leu312Val) http://identifiers.org/clinvar/187173 ^@ NM_000548.4(TSC2):c.944C>T (p.Ser315Leu) http://identifiers.org/clinvar/184699 ^@ NM_000548.4(TSC2):c.1095C>T (p.Ile365=) http://identifiers.org/clinvar/184142 ^@ NM_000548.4(TSC2):c.1170G>A (p.Thr390=) http://identifiers.org/clinvar/184138 ^@ NM_000548.4(TSC2):c.1244C>T (p.Ala415Val) http://identifiers.org/clinvar/184607 ^@ NM_000548.4(TSC2):c.1245G>A (p.Ala415=) http://identifiers.org/clinvar/187099 ^@ NM_000548.4(TSC2):c.1588A>G (p.Ile530Val) http://identifiers.org/clinvar/185164 ^@ NM_000548.4(TSC2):c.1735C>T (p.Pro579Ser) http://identifiers.org/clinvar/186281 ^@ NM_000548.4(TSC2):c.1883G>A (p.Arg628His) http://identifiers.org/clinvar/184135 ^@ NM_000548.4(TSC2):c.2032G>A (p.Ala678Thr) http://identifiers.org/clinvar/185220 ^@ NM_000548.4(TSC2):c.2034C>T (p.Ala678=) http://identifiers.org/clinvar/184386 ^@ NM_000548.4(TSC2):c.2071C>T (p.Arg691Cys) http://identifiers.org/clinvar/186667 ^@ NM_000548.4(TSC2):c.2153G>A (p.Arg718His) http://identifiers.org/clinvar/185059 ^@ NM_000548.4(TSC2):c.2322C>T (p.Ile774=) http://identifiers.org/clinvar/184659 ^@ NM_000548.4(TSC2):c.2454C>T (p.Ile818=) http://identifiers.org/clinvar/185434 ^@ NM_000548.4(TSC2):c.2584G>A (p.Ala862Thr) http://identifiers.org/clinvar/184267 ^@ NM_000548.4(TSC2):c.2760C>T (p.Val920=) http://identifiers.org/clinvar/187511 ^@ NM_000548.4(TSC2):c.2837+5G>A http://identifiers.org/clinvar/186919 ^@ NM_000548.4(TSC2):c.2985C>T (p.Leu995=) http://identifiers.org/clinvar/186584 ^@ NM_000548.4(TSC2):c.3255G>A (p.Ser1085=) http://identifiers.org/clinvar/187001 ^@ NM_000548.4(TSC2):c.3324G>A (p.Ala1108=) http://identifiers.org/clinvar/184243 ^@ NM_000548.4(TSC2):c.3535G>A (p.Glu1179Lys) http://identifiers.org/clinvar/185446 ^@ NM_000548.4(TSC2):c.3777C>T (p.Ser1259=) http://identifiers.org/clinvar/187524 ^@ NM_000548.4(TSC2):c.4080G>A (p.Glu1360=) http://identifiers.org/clinvar/187598 ^@ NM_000548.4(TSC2):c.4527C>A (p.Phe1509Leu) http://identifiers.org/clinvar/184768 ^@ NM_000548.4(TSC2):c.4680C>T (p.Ala1560=) http://identifiers.org/clinvar/186842 ^@ NM_000548.4(TSC2):c.4870C>T (p.Leu1624=) http://identifiers.org/clinvar/186947 ^@ NM_000548.4(TSC2):c.4905C>T (p.Cys1635=) http://identifiers.org/clinvar/187484 ^@ NM_000548.4(TSC2):c.5204T>G (p.Ile1735Ser) http://identifiers.org/clinvar/184400 ^@ NM_000548.4(TSC2):c.5265C>T (p.Cys1755=) http://identifiers.org/clinvar/184396 ^@ NM_000548.4(TSC2):c.5275G>A (p.Ala1759Thr) http://identifiers.org/clinvar/185225 ^@ NM_000548.4(TSC2):c.5397G>A (p.Ser1799=) http://identifiers.org/clinvar/184450 ^@ NM_000548.4(TSC2):c.*5G>A http://identifiers.org/clinvar/187203 ^@ NM_024675.3(PALB2):c.3545T>C (p.Val1182Ala) http://identifiers.org/clinvar/183868 ^@ NM_024675.3(PALB2):c.3525A>G (p.Gln1175=) http://identifiers.org/clinvar/186939 ^@ NM_024675.3(PALB2):c.3520G>A (p.Gly1174Arg) http://identifiers.org/clinvar/187089 ^@ NM_024675.3(PALB2):c.3451C>T (p.Leu1151Phe) http://identifiers.org/clinvar/186101 ^@ NM_024675.3(PALB2):c.3433G>A (p.Gly1145Ser) http://identifiers.org/clinvar/185799 ^@ NM_024675.3(PALB2):c.3426_3429delACTT (p.Leu1142Phefs) http://identifiers.org/clinvar/183828 ^@ NM_024675.3(PALB2):c.3418T>G (p.Trp1140Gly) http://identifiers.org/clinvar/185518 ^@ NM_024675.3(PALB2):c.3367G>A (p.Val1123Met) http://identifiers.org/clinvar/186020 ^@ NM_024675.3(PALB2):c.3351-5A>C http://identifiers.org/clinvar/184415 ^@ NM_024675.3(PALB2):c.3297G>A (p.Thr1099=) http://identifiers.org/clinvar/183891 ^@ NM_024675.3(PALB2):c.3287A>G (p.Asn1096Ser) http://identifiers.org/clinvar/184242 ^@ NM_024675.3(PALB2):c.3282G>A (p.Val1094=) http://identifiers.org/clinvar/186946 ^@ NM_024675.3(PALB2):c.3244A>G (p.Ser1082Gly) http://identifiers.org/clinvar/185218 ^@ NM_024675.3(PALB2):c.3228_3244dup17 (p.Ser1082Ilefs) http://identifiers.org/clinvar/187105 ^@ NM_024675.3(PALB2):c.3204G>A (p.Gly1068=) http://identifiers.org/clinvar/185957 ^@ NM_024675.3(PALB2):c.3203G>C (p.Gly1068Ala) http://identifiers.org/clinvar/186712 ^@ NM_024675.3(PALB2):c.3201+2dupT http://identifiers.org/clinvar/187727 ^@ NM_024675.3(PALB2):c.3114-5C>T http://identifiers.org/clinvar/184257 ^@ NM_024675.3(PALB2):c.3069A>G (p.Gln1023=) http://identifiers.org/clinvar/187120 ^@ NM_024675.3(PALB2):c.3004_3007delGAAA (p.Glu1002Thrfs) http://identifiers.org/clinvar/187492 ^@ NM_024675.3(PALB2):c.2986G>T (p.Glu996Ter) http://identifiers.org/clinvar/186365 ^@ NM_024675.3(PALB2):c.2985A>T (p.Ala995=) http://identifiers.org/clinvar/184129 ^@ NM_024675.3(PALB2):c.2955T>G (p.Ser985=) http://identifiers.org/clinvar/184294 ^@ NM_024675.3(PALB2):c.2913C>A (p.Gly971=) http://identifiers.org/clinvar/186261 ^@ NM_024675.3(PALB2):c.2902G>A (p.Ala968Thr) http://identifiers.org/clinvar/186824 ^@ NM_024675.3(PALB2):c.2882T>C (p.Leu961Pro) http://identifiers.org/clinvar/186696 ^@ NM_024675.3(PALB2):c.2881C>T (p.Leu961=) http://identifiers.org/clinvar/187262 ^@ NM_024675.3(PALB2):c.2831T>A (p.Ile944Asn) http://identifiers.org/clinvar/186029 ^@ NM_024675.3(PALB2):c.2810G>A (p.Gly937Glu) http://identifiers.org/clinvar/186840 ^@ NM_024675.3(PALB2):c.2792T>G (p.Leu931Arg) http://identifiers.org/clinvar/185678 ^@ NM_024675.3(PALB2):c.2782G>A (p.Val928Met) http://identifiers.org/clinvar/187647 ^@ NM_024675.3(PALB2):c.2747_2748+4delAGGTAA http://identifiers.org/clinvar/186035 ^@ NM_024675.3(PALB2):c.2748+1G>T http://identifiers.org/clinvar/186534 ^@ NM_024675.3(PALB2):c.2701C>G (p.Leu901Val) http://identifiers.org/clinvar/185801 ^@ NM_024675.3(PALB2):c.2662A>T (p.Ile888Leu) http://identifiers.org/clinvar/186414 ^@ NM_024675.3(PALB2):c.2649A>G (p.Lys883=) http://identifiers.org/clinvar/184006 ^@ NM_024675.3(PALB2):c.2601C>T (p.Ser867=) http://identifiers.org/clinvar/186848 ^@ NM_024675.3(PALB2):c.2597G>A (p.Gly866Asp) http://identifiers.org/clinvar/184722 ^@ NM_024675.3(PALB2):c.2569T>C (p.Leu857=) http://identifiers.org/clinvar/186990 ^@ NM_024675.3(PALB2):c.2524_2535delGCAGAGCTTCCTinsTCAGA (p.Ala842Serfs) http://identifiers.org/clinvar/187271 ^@ NM_024675.3(PALB2):c.2508C>G (p.Val836=) http://identifiers.org/clinvar/185041 ^@ NM_024675.3(PALB2):c.2478C>T (p.Asn826=) http://identifiers.org/clinvar/185630 ^@ NM_024675.3(PALB2):c.2474G>C (p.Arg825Thr) http://identifiers.org/clinvar/183712 ^@ NM_024675.3(PALB2):c.2453T>C (p.Phe818Ser) http://identifiers.org/clinvar/183914 ^@ NM_024675.3(PALB2):c.2418G>A (p.Pro806=) http://identifiers.org/clinvar/187577 ^@ NM_024675.3(PALB2):c.2382G>A (p.Arg794=) http://identifiers.org/clinvar/187278 ^@ NM_024675.3(PALB2):c.2356C>T (p.His786Tyr) http://identifiers.org/clinvar/186885 ^@ NM_024675.3(PALB2):c.2344C>T (p.Pro782Ser) http://identifiers.org/clinvar/184735 ^@ NM_024675.3(PALB2):c.2337A>C (p.Ser779=) http://identifiers.org/clinvar/186458 ^@ NM_024675.3(PALB2):c.2336C>G (p.Ser779Ter) http://identifiers.org/clinvar/186302 ^@ NM_024675.3(PALB2):c.2311A>G (p.Ser771Gly) http://identifiers.org/clinvar/185872 ^@ NM_024675.3(PALB2):c.2277A>G (p.Gln759=) http://identifiers.org/clinvar/185160 ^@ NM_024675.3(PALB2):c.2271A>G (p.Thr757=) http://identifiers.org/clinvar/183792 ^@ NM_024675.3(PALB2):c.2253T>C (p.Ala751=) http://identifiers.org/clinvar/183967 ^@ NM_024675.3(PALB2):c.2244A>G (p.Thr748=) http://identifiers.org/clinvar/185182 ^@ NM_024675.3(PALB2):c.2228A>T (p.Tyr743Phe) http://identifiers.org/clinvar/184708 ^@ NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) http://identifiers.org/clinvar/185271 ^@ NM_024675.3(PALB2):c.2208C>A (p.Ala736=) http://identifiers.org/clinvar/186485 ^@ NM_024675.3(PALB2):c.2134G>C (p.Ala712Pro) http://identifiers.org/clinvar/184275 ^@ NM_024675.3(PALB2):c.2130G>A (p.Thr710=) http://identifiers.org/clinvar/184830 ^@ NM_024675.3(PALB2):c.2100A>T (p.Ser700=) http://identifiers.org/clinvar/183889 ^@ NM_024675.3(PALB2):c.2082A>G (p.Thr694=) http://identifiers.org/clinvar/185889 ^@ NM_024675.3(PALB2):c.2067G>A (p.Ser689=) http://identifiers.org/clinvar/187730 ^@ NM_024675.3(PALB2):c.1958G>A (p.Cys653Tyr) http://identifiers.org/clinvar/185767 ^@ NM_024675.3(PALB2):c.1930G>T (p.Gly644Ter) http://identifiers.org/clinvar/186818 ^@ NM_024675.3(PALB2):c.1914_1929del16 (p.Phe638Leufs) http://identifiers.org/clinvar/184802 ^@ NM_024675.3(PALB2):c.1920A>T (p.Ser640=) http://identifiers.org/clinvar/187715 ^@ NM_024675.3(PALB2):c.1881G>A (p.Val627=) http://identifiers.org/clinvar/186906 ^@ NM_024675.3(PALB2):c.1852G>A (p.Asp618Asn) http://identifiers.org/clinvar/185069 ^@ NM_024675.3(PALB2):c.1846G>C (p.Asp616His) http://identifiers.org/clinvar/186779 ^@ NM_024675.3(PALB2):c.1790T>G (p.Met597Arg) http://identifiers.org/clinvar/187669 ^@ NM_024675.3(PALB2):c.1766C>T (p.Thr589Met) http://identifiers.org/clinvar/186568 ^@ NM_024675.3(PALB2):c.1755T>C (p.Asp585=) http://identifiers.org/clinvar/186581 ^@ NM_024675.3(PALB2):c.1748T>C (p.Leu583Ser) http://identifiers.org/clinvar/185787 ^@ NM_024675.3(PALB2):c.1715C>T (p.Ser572Phe) http://identifiers.org/clinvar/187454 ^@ NM_024675.3(PALB2):c.1708G>A (p.Glu570Lys) http://identifiers.org/clinvar/184985 ^@ NM_024675.3(PALB2):c.1692A>G (p.Lys564=) http://identifiers.org/clinvar/186382 ^@ NM_024675.3(PALB2):c.1691A>G (p.Lys564Arg) http://identifiers.org/clinvar/185516 ^@ NM_024675.3(PALB2):c.1684G>A (p.Gly562Arg) http://identifiers.org/clinvar/186099 ^@ NM_024675.3(PALB2):c.1662A>G (p.Glu554=) http://identifiers.org/clinvar/187175 ^@ NM_024675.3(PALB2):c.1659C>G (p.His553Gln) http://identifiers.org/clinvar/184897 ^@ NM_024675.3(PALB2):c.1647_1648delCA (p.His549Glnfs) http://identifiers.org/clinvar/183745 ^@ NM_024675.3(PALB2):c.1623G>A (p.Arg541=) http://identifiers.org/clinvar/186949 ^@ NM_024675.3(PALB2):c.1616_1617dupTT (p.Asn540Leufs) http://identifiers.org/clinvar/183798 ^@ NM_024675.3(PALB2):c.1599T>C (p.Thr533=) http://identifiers.org/clinvar/185637 ^@ NM_024675.3(PALB2):c.1594C>T (p.Pro532Ser) http://identifiers.org/clinvar/187098 ^@ NM_024675.3(PALB2):c.1545A>G (p.Lys515=) http://identifiers.org/clinvar/186465 ^@ NM_024675.3(PALB2):c.1539A>T (p.Thr513=) http://identifiers.org/clinvar/186732 ^@ NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp) http://identifiers.org/clinvar/187090 ^@ NM_024675.3(PALB2):c.1510G>A (p.Val504Ile) http://identifiers.org/clinvar/186124 ^@ NM_024675.3(PALB2):c.1505A>G (p.Lys502Arg) http://identifiers.org/clinvar/186703 ^@ NM_024675.3(PALB2):c.1481C>A (p.Thr494Asn) http://identifiers.org/clinvar/186107 ^@ NM_024675.3(PALB2):c.1454C>T (p.Thr485Ile) http://identifiers.org/clinvar/187412 ^@ NM_024675.3(PALB2):c.1451T>A (p.Leu484Ter) http://identifiers.org/clinvar/187630 ^@ NM_024675.3(PALB2):c.1433C>T (p.Ser478Phe) http://identifiers.org/clinvar/184941 ^@ NM_024675.3(PALB2):c.1421G>A (p.Ser474Asn) http://identifiers.org/clinvar/185197 ^@ NM_024675.3(PALB2):c.1408A>G (p.Thr470Ala) http://identifiers.org/clinvar/186522 ^@ NM_024675.3(PALB2):c.1395G>A (p.Met465Ile) http://identifiers.org/clinvar/187141 ^@ NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) http://identifiers.org/clinvar/184531 ^@ NM_024675.3(PALB2):c.1311A>G (p.Lys437=) http://identifiers.org/clinvar/186577 ^@ NM_024675.3(PALB2):c.1291_1292delAG (p.His432Phefs) http://identifiers.org/clinvar/187458 ^@ NM_024675.3(PALB2):c.1273G>A (p.Val425Met) http://identifiers.org/clinvar/184383 ^@ NM_024675.3(PALB2):c.1272C>T (p.Ala424=) http://identifiers.org/clinvar/186469 ^@ NM_024675.3(PALB2):c.1272C>G (p.Ala424=) http://identifiers.org/clinvar/183796 ^@ NM_024675.3(PALB2):c.1257C>T (p.Cys419=) http://identifiers.org/clinvar/186426 ^@ NM_024675.3(PALB2):c.1252A>G (p.Asn418Asp) http://identifiers.org/clinvar/185091 ^@ NM_024675.3(PALB2):c.1222T>G (p.Tyr408Asp) http://identifiers.org/clinvar/185784 ^@ NM_024675.3(PALB2):c.1209G>A (p.Leu403=) http://identifiers.org/clinvar/187142 ^@ NM_024675.3(PALB2):c.1123C>A (p.Leu375Ile) http://identifiers.org/clinvar/185365 ^@ NM_024675.3(PALB2):c.1097A>G (p.Asn366Ser) http://identifiers.org/clinvar/187159 ^@ NM_024675.3(PALB2):c.1095G>A (p.Arg365=) http://identifiers.org/clinvar/185438 ^@ NM_024675.3(PALB2):c.1093A>G (p.Arg365Gly) http://identifiers.org/clinvar/187008 ^@ NM_024675.3(PALB2):c.1085_1086delTT (p.Leu362Argfs) http://identifiers.org/clinvar/184305 ^@ NM_024675.3(PALB2):c.1033T>C (p.Leu345=) http://identifiers.org/clinvar/186306 ^@ NM_024675.3(PALB2):c.1030A>G (p.Asn344Asp) http://identifiers.org/clinvar/186776 ^@ NM_024675.3(PALB2):c.1026C>G (p.Asn342Lys) http://identifiers.org/clinvar/184397 ^@ NM_024675.3(PALB2):c.1014A>G (p.Pro338=) http://identifiers.org/clinvar/186886 ^@ NM_024675.3(PALB2):c.993A>G (p.Glu331=) http://identifiers.org/clinvar/185906 ^@ NM_024675.3(PALB2):c.980G>A (p.Cys327Tyr) http://identifiers.org/clinvar/186605 ^@ NM_024675.3(PALB2):c.957T>C (p.Ser319=) http://identifiers.org/clinvar/185396 ^@ NM_024675.3(PALB2):c.950C>T (p.Thr317Ile) http://identifiers.org/clinvar/187557 ^@ NM_024675.3(PALB2):c.940C>T (p.Gln314Ter) http://identifiers.org/clinvar/187401 ^@ NM_024675.3(PALB2):c.900A>G (p.Thr300=) http://identifiers.org/clinvar/186823 ^@ NM_024675.3(PALB2):c.843_845delTAG (p.Arg282del) http://identifiers.org/clinvar/184334 ^@ NM_024675.3(PALB2):c.843T>C (p.Ile281=) http://identifiers.org/clinvar/186811 ^@ NM_024675.3(PALB2):c.829G>A (p.Asp277Asn) http://identifiers.org/clinvar/185844 ^@ NM_024675.3(PALB2):c.824C>T (p.Thr275Ile) http://identifiers.org/clinvar/186821 ^@ NM_024675.3(PALB2):c.813T>A (p.Ser271Arg) http://identifiers.org/clinvar/185553 ^@ NM_024675.3(PALB2):c.788A>G (p.Glu263Gly) http://identifiers.org/clinvar/184338 ^@ NM_024675.3(PALB2):c.768C>T (p.Ser256=) http://identifiers.org/clinvar/186559 ^@ NM_024675.3(PALB2):c.739A>G (p.Thr247Ala) http://identifiers.org/clinvar/187626 ^@ NM_024675.3(PALB2):c.637G>C (p.Val213Leu) http://identifiers.org/clinvar/187023 ^@ NM_024675.3(PALB2):c.610T>G (p.Ser204Ala) http://identifiers.org/clinvar/186268 ^@ NM_024675.3(PALB2):c.538G>A (p.Glu180Lys) http://identifiers.org/clinvar/187261 ^@ NM_024675.3(PALB2):c.503C>T (p.Ser168Leu) http://identifiers.org/clinvar/186120 ^@ NM_024675.3(PALB2):c.495C>T (p.Gly165=) http://identifiers.org/clinvar/186083 ^@ NM_024675.3(PALB2):c.423G>A (p.Gln141=) http://identifiers.org/clinvar/184637 ^@ NM_024675.3(PALB2):c.405T>C (p.Pro135=) http://identifiers.org/clinvar/185066 ^@ NM_024675.3(PALB2):c.372C>T (p.Thr124=) http://identifiers.org/clinvar/187567 ^@ NM_024675.3(PALB2):c.339A>C (p.Pro113=) http://identifiers.org/clinvar/184298 ^@ NM_024675.3(PALB2):c.312T>C (p.Pro104=) http://identifiers.org/clinvar/184918 ^@ NM_024675.3(PALB2):c.266A>G (p.Asp89Gly) http://identifiers.org/clinvar/187058 ^@ NM_024675.3(PALB2):c.242A>G (p.Lys81Arg) http://identifiers.org/clinvar/186040 ^@ NM_024675.3(PALB2):c.210A>C (p.Ser70=) http://identifiers.org/clinvar/184751 ^@ NM_024675.3(PALB2):c.195G>A (p.Pro65=) http://identifiers.org/clinvar/185393 ^@ NM_024675.3(PALB2):c.169T>A (p.Cys57Ser) http://identifiers.org/clinvar/186676 ^@ NM_024675.3(PALB2):c.142A>G (p.Ile48Val) http://identifiers.org/clinvar/185108 ^@ NM_024675.3(PALB2):c.109C>A (p.Arg37Ser) http://identifiers.org/clinvar/186920 ^@ NM_024675.3(PALB2):c.101G>T (p.Arg34Leu) http://identifiers.org/clinvar/185273 ^@ NM_024675.3(PALB2):c.100C>T (p.Arg34Cys) http://identifiers.org/clinvar/184820 ^@ NM_024675.3(PALB2):c.84C>T (p.Tyr28=) http://identifiers.org/clinvar/186820 ^@ NM_024675.3(PALB2):c.49-2A>T http://identifiers.org/clinvar/185246 ^@ NM_024675.3(PALB2):c.40A>G (p.Lys14Glu) http://identifiers.org/clinvar/185575 ^@ NM_024675.3(PALB2):c.36G>A (p.Glu12=) http://identifiers.org/clinvar/186265 ^@ NM_024675.3(PALB2):c.9G>T (p.Glu3Asp) http://identifiers.org/clinvar/185627 ^@ NM_024675.3(PALB2):c.9G>A (p.Glu3=) http://identifiers.org/clinvar/183998 ^@ NM_004360.4(CDH1):c.4G>A (p.Gly2Ser) http://identifiers.org/clinvar/184107 ^@ NM_004360.4(CDH1):c.6C>T (p.Gly2=) http://identifiers.org/clinvar/184111 ^@ NM_004360.4(CDH1):c.15C>T (p.Ser5=) http://identifiers.org/clinvar/184145 ^@ NM_004360.4(CDH1):c.18C>A (p.Arg6=) http://identifiers.org/clinvar/184065 ^@ NM_004360.4(CDH1):c.27G>A (p.Ser9=) http://identifiers.org/clinvar/184548 ^@ NM_004360.4(CDH1):c.42G>A (p.Leu14=) http://identifiers.org/clinvar/187239 ^@ NM_004360.4(CDH1):c.60G>A (p.Trp20Ter) http://identifiers.org/clinvar/186050 ^@ NM_004360.4(CDH1):c.69G>A (p.Gln23=) http://identifiers.org/clinvar/185752 ^@ NM_004360.4(CDH1):c.75G>A (p.Pro25=) http://identifiers.org/clinvar/183750 ^@ NM_004360.4(CDH1):c.76G>T (p.Glu26Ter) http://identifiers.org/clinvar/187063 ^@ NM_004360.4(CDH1):c.112A>G (p.Thr38Ala) http://identifiers.org/clinvar/184799 ^@ NM_004360.4(CDH1):c.114G>A (p.Thr38=) http://identifiers.org/clinvar/184482 ^@ NM_004360.4(CDH1):c.114G>C (p.Thr38=) http://identifiers.org/clinvar/184377 ^@ NM_004360.4(CDH1):c.120G>A (p.Thr40=) http://identifiers.org/clinvar/183853 ^@ NM_004360.4(CDH1):c.120G>C (p.Thr40=) http://identifiers.org/clinvar/185797 ^@ NM_004360.4(CDH1):c.121G>A (p.Val41Met) http://identifiers.org/clinvar/184072 ^@ NM_004360.4(CDH1):c.150C>T (p.Arg50=) http://identifiers.org/clinvar/184075 ^@ NM_004360.4(CDH1):c.153C>T (p.Val51=) http://identifiers.org/clinvar/186186 ^@ NM_004360.4(CDH1):c.163+4_163+6dupAGG http://identifiers.org/clinvar/185577 ^@ NM_004360.4(CDH1):c.164-4G>A http://identifiers.org/clinvar/185930 ^@ NM_004360.4(CDH1):c.173A>T (p.Glu58Val) http://identifiers.org/clinvar/184720 ^@ NM_004360.4(CDH1):c.183C>T (p.Thr61=) http://identifiers.org/clinvar/187429 ^@ NM_004360.4(CDH1):c.185G>T (p.Gly62Val) http://identifiers.org/clinvar/185408 ^@ NM_004360.4(CDH1):c.202delT (p.Tyr68Ilefs) http://identifiers.org/clinvar/184558 ^@ NM_004360.4(CDH1):c.213C>T (p.Leu71=) http://identifiers.org/clinvar/185707 ^@ NM_004360.4(CDH1):c.286A>T (p.Ile96Phe) http://identifiers.org/clinvar/184437 ^@ NM_004360.4(CDH1):c.300C>G (p.Val100=) http://identifiers.org/clinvar/183867 ^@ NM_004360.4(CDH1):c.303C>T (p.Tyr101=) http://identifiers.org/clinvar/187729 ^@ NM_004360.4(CDH1):c.304G>T (p.Ala102Ser) http://identifiers.org/clinvar/186096 ^@ NM_004360.4(CDH1):c.305C>T (p.Ala102Val) http://identifiers.org/clinvar/185000 ^@ NM_004360.4(CDH1):c.318C>T (p.Thr106=) http://identifiers.org/clinvar/187593 ^@ NM_004360.4(CDH1):c.355G>A (p.Val119Met) http://identifiers.org/clinvar/186228 ^@ NM_004360.4(CDH1):c.368A>G (p.His123Arg) http://identifiers.org/clinvar/186880 ^@ NM_004360.4(CDH1):c.369C>G (p.His123Gln) http://identifiers.org/clinvar/184510 ^@ NM_004360.4(CDH1):c.372C>A (p.Arg124=) http://identifiers.org/clinvar/184629 ^@ NM_004360.4(CDH1):c.377C>T (p.Pro126Leu) http://identifiers.org/clinvar/184503 ^@ NM_004360.4(CDH1):c.378G>A (p.Pro126=) http://identifiers.org/clinvar/184908 ^@ NM_004360.4(CDH1):c.393C>G (p.Ser131=) http://identifiers.org/clinvar/184085 ^@ NM_004360.4(CDH1):c.393C>T (p.Ser131=) http://identifiers.org/clinvar/184375 ^@ NM_004360.4(CDH1):c.420C>G (p.Leu140=) http://identifiers.org/clinvar/186787 ^@ NM_004360.4(CDH1):c.446T>C (p.Leu149Pro) http://identifiers.org/clinvar/187327 ^@ NM_004360.4(CDH1):c.456G>C (p.Gln152His) http://identifiers.org/clinvar/184088 ^@ NM_004360.4(CDH1):c.522C>T (p.Asn174=) http://identifiers.org/clinvar/186403 ^@ NM_004360.4(CDH1):c.582C>T (p.Gly194=) http://identifiers.org/clinvar/184575 ^@ NM_004360.4(CDH1):c.627A>G (p.Arg209=) http://identifiers.org/clinvar/187304 ^@ NM_004360.4(CDH1):c.636A>G (p.Gly212=) http://identifiers.org/clinvar/186769 ^@ NM_004360.4(CDH1):c.674T>C (p.Ile225Thr) http://identifiers.org/clinvar/185747 ^@ NM_004360.4(CDH1):c.687+5G>C http://identifiers.org/clinvar/184143 ^@ NM_004360.4(CDH1):c.780C>T (p.Pro260=) http://identifiers.org/clinvar/186326 ^@ NM_004360.4(CDH1):c.820G>A (p.Gly274Ser) http://identifiers.org/clinvar/185381 ^@ NM_004360.4(CDH1):c.832+5A>G http://identifiers.org/clinvar/185674 ^@ NM_004360.4(CDH1):c.850G>A (p.Val284Ile) http://identifiers.org/clinvar/183900 ^@ NM_004360.4(CDH1):c.867G>A (p.Ala289=) http://identifiers.org/clinvar/185112 ^@ NM_004360.4(CDH1):c.870C>T (p.Asp290=) http://identifiers.org/clinvar/185260 ^@ NM_004360.4(CDH1):c.873T>C (p.Asp291=) http://identifiers.org/clinvar/185751 ^@ NM_004360.4(CDH1):c.879G>A (p.Val293=) http://identifiers.org/clinvar/183838 ^@ NM_004360.4(CDH1):c.894C>T (p.Ala298=) http://identifiers.org/clinvar/185831 ^@ NM_004360.4(CDH1):c.897C>T (p.Ala299=) http://identifiers.org/clinvar/185413 ^@ NM_004360.4(CDH1):c.901G>A (p.Ala301Thr) http://identifiers.org/clinvar/185727 ^@ NM_004360.4(CDH1):c.909C>T (p.Thr303=) http://identifiers.org/clinvar/185800 ^@ NM_004360.4(CDH1):c.957T>A (p.Ile319=) http://identifiers.org/clinvar/186460 ^@ NM_004360.4(CDH1):c.982G>A (p.Val328Met) http://identifiers.org/clinvar/187430 ^@ NM_004360.4(CDH1):c.990C>T (p.Thr330=) http://identifiers.org/clinvar/183727 ^@ NM_004360.4(CDH1):c.1009_1010delAG (p.Ser337Phefs) http://identifiers.org/clinvar/184101 ^@ NM_004360.4(CDH1):c.1017T>C (p.Pro339=) http://identifiers.org/clinvar/183964 ^@ NM_004360.4(CDH1):c.1107C>T (p.Asn369=) http://identifiers.org/clinvar/184559 ^@ NM_004360.4(CDH1):c.1119G>A (p.Pro373=) http://identifiers.org/clinvar/186267 ^@ NM_004360.4(CDH1):c.1137+2T>C http://identifiers.org/clinvar/184346 ^@ NM_004360.4(CDH1):c.1138-3C>T http://identifiers.org/clinvar/185856 ^@ NM_004360.4(CDH1):c.1149G>C (p.Gln383His) http://identifiers.org/clinvar/184387 ^@ NM_004360.4(CDH1):c.1161C>T (p.Asn387=) http://identifiers.org/clinvar/184069 ^@ NM_004360.4(CDH1):c.1170C>T (p.Asn390=) http://identifiers.org/clinvar/184651 ^@ NM_004360.4(CDH1):c.1171G>A (p.Val391Ile) http://identifiers.org/clinvar/184772 ^@ NM_004360.4(CDH1):c.1200T>C (p.Asp400=) http://identifiers.org/clinvar/184038 ^@ NM_004360.4(CDH1):c.1203T>C (p.Ala401=) http://identifiers.org/clinvar/184347 ^@ NM_004360.4(CDH1):c.1239C>T (p.Tyr413=) http://identifiers.org/clinvar/184801 ^@ NM_004360.4(CDH1):c.1241C>A (p.Thr414Asn) http://identifiers.org/clinvar/185286 ^@ NM_004360.4(CDH1):c.1250A>G (p.Asn417Ser) http://identifiers.org/clinvar/185874 ^@ NM_004360.4(CDH1):c.1266A>G (p.Gln422=) http://identifiers.org/clinvar/185244 ^@ NM_004360.4(CDH1):c.1267T>C (p.Phe423Leu) http://identifiers.org/clinvar/186937 ^@ NM_004360.4(CDH1):c.1296C>G (p.Asn432Lys) http://identifiers.org/clinvar/185290 ^@ NM_004360.4(CDH1):c.1296C>T (p.Asn432=) http://identifiers.org/clinvar/184984 ^@ NM_004360.4(CDH1):c.1309A>C (p.Lys437Gln) http://identifiers.org/clinvar/183833 ^@ NM_004360.4(CDH1):c.1314A>G (p.Thr438=) http://identifiers.org/clinvar/184950 ^@ NM_004360.4(CDH1):c.1315G>A (p.Ala439Thr) http://identifiers.org/clinvar/186160 ^@ NM_004360.4(CDH1):c.1323C>A (p.Gly441=) http://identifiers.org/clinvar/186857 ^@ NM_004360.4(CDH1):c.1341G>A (p.Lys447=) http://identifiers.org/clinvar/185953 ^@ NM_004360.4(CDH1):c.1348T>A (p.Tyr450Asn) http://identifiers.org/clinvar/184324 ^@ NM_004360.4(CDH1):c.1359C>T (p.His453=) http://identifiers.org/clinvar/186028 ^@ NM_004360.4(CDH1):c.1374T>C (p.Asn458=) http://identifiers.org/clinvar/184067 ^@ NM_004360.4(CDH1):c.1392C>T (p.Val464=) http://identifiers.org/clinvar/185314 ^@ NM_004360.4(CDH1):c.1402A>G (p.Thr468Ala) http://identifiers.org/clinvar/183812 ^@ NM_004360.4(CDH1):c.1422C>T (p.Thr474=) http://identifiers.org/clinvar/186076 ^@ NM_004360.4(CDH1):c.1438G>A (p.Val480Met) http://identifiers.org/clinvar/184679 ^@ NM_004360.4(CDH1):c.1455C>T (p.Ile485=) http://identifiers.org/clinvar/185854 ^@ NM_004360.4(CDH1):c.1465C>T (p.Pro489Ser) http://identifiers.org/clinvar/185725 ^@ NM_004360.4(CDH1):c.1478T>C (p.Val493Ala) http://identifiers.org/clinvar/185821 ^@ NM_004360.4(CDH1):c.1484T>C (p.Val495Ala) http://identifiers.org/clinvar/184488 ^@ NM_004360.4(CDH1):c.1488C>T (p.Ser496=) http://identifiers.org/clinvar/183803 ^@ NM_004360.4(CDH1):c.1500C>T (p.Gly500=) http://identifiers.org/clinvar/184150 ^@ NM_004360.4(CDH1):c.1524C>T (p.Tyr508=) http://identifiers.org/clinvar/187340 ^@ NM_004360.4(CDH1):c.1550T>A (p.Met517Lys) http://identifiers.org/clinvar/185005 ^@ NM_004360.4(CDH1):c.1565+5G>A http://identifiers.org/clinvar/184348 ^@ NM_004360.4(CDH1):c.1570C>G (p.Arg524Gly) http://identifiers.org/clinvar/183824 ^@ NM_004360.4(CDH1):c.1572G>C (p.Arg524=) http://identifiers.org/clinvar/186165 ^@ NM_004360.4(CDH1):c.1585A>C (p.Thr529Pro) http://identifiers.org/clinvar/184940 ^@ NM_004360.4(CDH1):c.1590C>T (p.Ala530=) http://identifiers.org/clinvar/183790 ^@ NM_004360.4(CDH1):c.1623C>T (p.Ala541=) http://identifiers.org/clinvar/185349 ^@ NM_004360.4(CDH1):c.1630A>T (p.Thr544Ser) http://identifiers.org/clinvar/183731 ^@ NM_004360.4(CDH1):c.1680G>A (p.Thr560=) http://identifiers.org/clinvar/184222 ^@ NM_004360.4(CDH1):c.1690C>T (p.Leu564=) http://identifiers.org/clinvar/185204 ^@ NM_004360.4(CDH1):c.1697T>C (p.Ile566Thr) http://identifiers.org/clinvar/186125 ^@ NM_004360.4(CDH1):c.1703C>T (p.Thr568Ile) http://identifiers.org/clinvar/185583 ^@ NM_004360.4(CDH1):c.1711G>A (p.Gly571Ser) http://identifiers.org/clinvar/186618 ^@ NM_004360.4(CDH1):c.1711+2_1711+7delTAAGGG http://identifiers.org/clinvar/187170 ^@ NM_004360.4(CDH1):c.1728T>C (p.Thr576=) http://identifiers.org/clinvar/184624 ^@ NM_004360.4(CDH1):c.1774G>T (p.Ala592Ser) http://identifiers.org/clinvar/185289 ^@ NM_004360.4(CDH1):c.1775C>G (p.Ala592Gly) http://identifiers.org/clinvar/186627 ^@ NM_004360.4(CDH1):c.1789C>A (p.Pro597Thr) http://identifiers.org/clinvar/185105 ^@ NM_004360.4(CDH1):c.1797T>G (p.Thr599=) http://identifiers.org/clinvar/186454 ^@ NM_004360.4(CDH1):c.1834A>G (p.Ile612Val) http://identifiers.org/clinvar/185044 ^@ NM_004360.4(CDH1):c.1858C>A (p.Pro620Thr) http://identifiers.org/clinvar/185453 ^@ NM_004360.4(CDH1):c.1858C>T (p.Pro620Ser) http://identifiers.org/clinvar/184198 ^@ NM_004360.4(CDH1):c.1860T>G (p.Pro620=) http://identifiers.org/clinvar/184770 ^@ NM_004360.4(CDH1):c.1866T>C (p.Asn622=) http://identifiers.org/clinvar/183885 ^@ NM_004360.4(CDH1):c.1869A>G (p.Thr623=) http://identifiers.org/clinvar/184421 ^@ NM_004360.4(CDH1):c.1893A>C (p.Thr631=) http://identifiers.org/clinvar/187456 ^@ NM_004360.4(CDH1):c.1902G>A (p.Ala634=) http://identifiers.org/clinvar/184158 ^@ NM_004360.4(CDH1):c.1929C>T (p.Asn643=) http://identifiers.org/clinvar/186317 ^@ NM_004360.4(CDH1):c.1949T>C (p.Ile650Thr) http://identifiers.org/clinvar/185620 ^@ NM_004360.4(CDH1):c.1950C>T (p.Ile650=) http://identifiers.org/clinvar/184595 ^@ NM_004360.4(CDH1):c.1977G>A (p.Glu659=) http://identifiers.org/clinvar/185638 ^@ NM_004360.4(CDH1):c.1996A>C (p.Asn666His) http://identifiers.org/clinvar/185252 ^@ NM_004360.4(CDH1):c.1999delC (p.Leu667Serfs) http://identifiers.org/clinvar/184406 ^@ NM_004360.4(CDH1):c.2046G>A (p.Glu682=) http://identifiers.org/clinvar/186798 ^@ NM_004360.4(CDH1):c.2052C>T (p.Ser684=) http://identifiers.org/clinvar/183737 ^@ NM_004360.4(CDH1):c.2073C>T (p.Ala691=) http://identifiers.org/clinvar/184654 ^@ NM_004360.4(CDH1):c.2079C>T (p.Gly693=) http://identifiers.org/clinvar/184748 ^@ NM_004360.4(CDH1):c.2124T>A (p.Pro708=) http://identifiers.org/clinvar/184043 ^@ NM_004360.4(CDH1):c.2205G>A (p.Ala735=) http://identifiers.org/clinvar/186510 ^@ NM_004360.4(CDH1):c.2227C>T (p.Pro743Ser) http://identifiers.org/clinvar/186609 ^@ NM_004360.4(CDH1):c.2229C>G (p.Pro743=) http://identifiers.org/clinvar/185915 ^@ NM_004360.4(CDH1):c.2261A>G (p.Tyr754Cys) http://identifiers.org/clinvar/186218 ^@ NM_004360.4(CDH1):c.2272G>A (p.Glu758Lys) http://identifiers.org/clinvar/183864 ^@ NM_004360.4(CDH1):c.2280C>T (p.Gly760=) http://identifiers.org/clinvar/187198 ^@ NM_004360.4(CDH1):c.2295+3G>A http://identifiers.org/clinvar/185205 ^@ NM_004360.4(CDH1):c.2302G>A (p.Asp768Asn) http://identifiers.org/clinvar/184854 ^@ NM_004360.4(CDH1):c.2322G>A (p.Arg774=) http://identifiers.org/clinvar/184091 ^@ NM_004360.4(CDH1):c.2331C>T (p.Asp777=) http://identifiers.org/clinvar/184599 ^@ NM_004360.4(CDH1):c.2343A>G (p.Glu781=) http://identifiers.org/clinvar/184996 ^@ NM_004360.4(CDH1):c.2352T>C (p.Arg784=) http://identifiers.org/clinvar/186367 ^@ NM_004360.4(CDH1):c.2355C>T (p.Asn785=) http://identifiers.org/clinvar/186394 ^@ NM_004360.4(CDH1):c.2359G>A (p.Val787Ile) http://identifiers.org/clinvar/185969 ^@ NM_004360.4(CDH1):c.2371C>T (p.Leu791Phe) http://identifiers.org/clinvar/186668 ^@ NM_004360.4(CDH1):c.2379T>G (p.Ser793Arg) http://identifiers.org/clinvar/187242 ^@ NM_004360.4(CDH1):c.2382C>T (p.Val794=) http://identifiers.org/clinvar/184825 ^@ NM_004360.4(CDH1):c.2400C>T (p.Arg800=) http://identifiers.org/clinvar/183811 ^@ NM_004360.4(CDH1):c.2412C>T (p.Pro804=) http://identifiers.org/clinvar/184577 ^@ NM_004360.4(CDH1):c.2421T>C (p.Ile807=) http://identifiers.org/clinvar/187464 ^@ NM_004360.4(CDH1):c.2430delT (p.Phe810Leufs) http://identifiers.org/clinvar/183842 ^@ NM_004360.4(CDH1):c.2451G>A (p.Ala817=) http://identifiers.org/clinvar/185692 ^@ NM_004360.4(CDH1):c.2493C>T (p.Leu831=) http://identifiers.org/clinvar/185990 ^@ NM_004360.4(CDH1):c.2505T>C (p.Tyr835=) http://identifiers.org/clinvar/184105 ^@ NM_004360.4(CDH1):c.2514C>T (p.Ser838=) http://identifiers.org/clinvar/187491 ^@ NM_004360.4(CDH1):c.2524G>C (p.Ala842Pro) http://identifiers.org/clinvar/185587 ^@ NM_004360.4(CDH1):c.2558C>T (p.Ser853Leu) http://identifiers.org/clinvar/185129 ^@ NM_004360.4(CDH1):c.2571G>A (p.Gln857=) http://identifiers.org/clinvar/184868 ^@ NM_004360.4(CDH1):c.2577T>C (p.Tyr859=) http://identifiers.org/clinvar/184005 ^@ NM_004360.4(CDH1):c.2637C>T (p.Gly879=) http://identifiers.org/clinvar/184838 ^@ NM_004360.4(CDH1):c.2638G>A (p.Glu880Lys) http://identifiers.org/clinvar/183778 ^@ NM_004360.4(CDH1):c.2643C>T (p.Asp881=) http://identifiers.org/clinvar/184907 ^@ NM_144997.5(FLCN):c.1692C>T (p.His564=) http://identifiers.org/clinvar/184253 ^@ NM_144997.5(FLCN):c.1635C>G (p.Asp545Glu) http://identifiers.org/clinvar/185811 ^@ NM_144997.5(FLCN):c.1459G>T (p.Glu487Ter) http://identifiers.org/clinvar/186735 ^@ NM_144997.5(FLCN):c.1432+5G>C http://identifiers.org/clinvar/184619 ^@ NM_144997.5(FLCN):c.1283C>A (p.Pro428His) http://identifiers.org/clinvar/184767 ^@ NM_144997.5(FLCN):c.1278C>T (p.Ile426=) http://identifiers.org/clinvar/186952 ^@ NM_144997.5(FLCN):c.1274A>G (p.Gln425Arg) http://identifiers.org/clinvar/185892 ^@ NM_144997.5(FLCN):c.1215C>G (p.Tyr405Ter) http://identifiers.org/clinvar/185442 ^@ NM_144997.5(FLCN):c.1107C>T (p.Leu369=) http://identifiers.org/clinvar/186648 ^@ NM_144997.5(FLCN):c.1059G>A (p.Arg353=) http://identifiers.org/clinvar/186764 ^@ NM_144997.5(FLCN):c.804G>T (p.Arg268=) http://identifiers.org/clinvar/187695 ^@ NM_144997.5(FLCN):c.711C>T (p.Ala237=) http://identifiers.org/clinvar/186785 ^@ NM_144997.5(FLCN):c.469_471delTTC (p.Phe157del) http://identifiers.org/clinvar/185318 ^@ NM_144997.5(FLCN):c.250-1G>A http://identifiers.org/clinvar/184250 ^@ NM_144997.5(FLCN):c.246C>T (p.Cys82=) http://identifiers.org/clinvar/187016 ^@ NM_144997.5(FLCN):c.139G>C (p.Glu47Gln) http://identifiers.org/clinvar/184633 ^@ NM_144997.5(FLCN):c.135G>A (p.Ala45=) http://identifiers.org/clinvar/187615 ^@ NM_001042492.2(NF1):c.36C>T (p.Ala12=) http://identifiers.org/clinvar/186896 ^@ NM_001042492.2(NF1):c.55G>T (p.Glu19Ter) http://identifiers.org/clinvar/186329 ^@ NM_001042492.2(NF1):c.91C>T (p.His31Tyr) http://identifiers.org/clinvar/186861 ^@ NM_001042492.2(NF1):c.99A>G (p.Lys33=) http://identifiers.org/clinvar/186105 ^@ NM_001042492.2(NF1):c.100G>A (p.Val34Ile) http://identifiers.org/clinvar/186556 ^@ NM_001042492.2(NF1):c.122A>C (p.Glu41Ala) http://identifiers.org/clinvar/184126 ^@ NM_001042492.2(NF1):c.168C>T (p.Ser56=) http://identifiers.org/clinvar/187703 ^@ NM_001042492.2(NF1):c.212T>C (p.Phe71Ser) http://identifiers.org/clinvar/186333 ^@ NM_001042492.2(NF1):c.239A>G (p.Tyr80Cys) http://identifiers.org/clinvar/184845 ^@ NM_001042492.2(NF1):c.321G>A (p.Thr107=) http://identifiers.org/clinvar/185589 ^@ NM_001042492.2(NF1):c.354C>T (p.Cys118=) http://identifiers.org/clinvar/184262 ^@ NM_001042492.2(NF1):c.369C>G (p.Thr123=) http://identifiers.org/clinvar/185081 ^@ NM_001042492.2(NF1):c.378A>C (p.Glu126Asp) http://identifiers.org/clinvar/185776 ^@ NM_001042492.2(NF1):c.393A>C (p.Ala131=) http://identifiers.org/clinvar/187087 ^@ NM_001042492.2(NF1):c.433C>G (p.Leu145Val) http://identifiers.org/clinvar/185947 ^@ NM_001042492.2(NF1):c.475A>C (p.Thr159Pro) http://identifiers.org/clinvar/186745 ^@ NM_001042492.2(NF1):c.493A>G (p.Thr165Ala) http://identifiers.org/clinvar/185021 ^@ NM_001042492.2(NF1):c.499_502delTGTT (p.Cys167Glnfs) http://identifiers.org/clinvar/187007 ^@ NM_001042492.2(NF1):c.512A>G (p.Asn171Ser) http://identifiers.org/clinvar/184989 ^@ NM_001042492.2(NF1):c.582G>A (p.Leu194=) http://identifiers.org/clinvar/187312 ^@ NM_001042492.2(NF1):c.624G>T (p.Ala208=) http://identifiers.org/clinvar/187069 ^@ NM_001042492.2(NF1):c.625C>T (p.Gln209Ter) http://identifiers.org/clinvar/184279 ^@ NM_001042492.2(NF1):c.696A>G (p.Thr232=) http://identifiers.org/clinvar/183825 ^@ NM_001042492.2(NF1):c.702G>A (p.Leu234=) http://identifiers.org/clinvar/186943 ^@ NM_001042492.2(NF1):c.705C>G (p.Tyr235Ter) http://identifiers.org/clinvar/187276 ^@ NM_001042492.2(NF1):c.757G>C (p.Val253Leu) http://identifiers.org/clinvar/185788 ^@ NM_001042492.2(NF1):c.805C>T (p.Leu269=) http://identifiers.org/clinvar/185796 ^@ NM_001042492.2(NF1):c.823A>C (p.Ile275Leu) http://identifiers.org/clinvar/187663 ^@ NM_001042492.2(NF1):c.826T>C (p.Leu276=) http://identifiers.org/clinvar/184123 ^@ NM_001042492.2(NF1):c.846G>A (p.Gln282=) http://identifiers.org/clinvar/184914 ^@ NM_001042492.2(NF1):c.861C>T (p.Asp287=) http://identifiers.org/clinvar/184857 ^@ NM_001042492.2(NF1):c.864G>C (p.Val288=) http://identifiers.org/clinvar/186258 ^@ NM_001042492.2(NF1):c.876C>T (p.Asn292=) http://identifiers.org/clinvar/185696 ^@ NM_001042492.2(NF1):c.889A>C (p.Lys297Gln) http://identifiers.org/clinvar/185099 ^@ NM_001042492.2(NF1):c.898C>T (p.Leu300=) http://identifiers.org/clinvar/186172 ^@ NM_001042492.2(NF1):c.905G>A (p.Ser302Asn) http://identifiers.org/clinvar/187722 ^@ NM_001042492.2(NF1):c.910C>T (p.Arg304Ter) http://identifiers.org/clinvar/187066 ^@ NM_001042492.2(NF1):c.942G>A (p.Arg314=) http://identifiers.org/clinvar/187496 ^@ NM_001042492.2(NF1):c.960T>A (p.Ala320=) http://identifiers.org/clinvar/184436 ^@ NM_001042492.2(NF1):c.969C>T (p.Ala323=) http://identifiers.org/clinvar/184560 ^@ NM_001042492.2(NF1):c.1005T>C (p.Asn335=) http://identifiers.org/clinvar/184189 ^@ NM_001042492.2(NF1):c.1032A>G (p.Leu344=) http://identifiers.org/clinvar/186131 ^@ NM_001042492.2(NF1):c.1089A>G (p.Pro363=) http://identifiers.org/clinvar/184737 ^@ NM_001042492.2(NF1):c.1113A>C (p.Ala371=) http://identifiers.org/clinvar/184363 ^@ NM_001042492.2(NF1):c.1137C>T (p.Cys379=) http://identifiers.org/clinvar/184613 ^@ NM_001042492.2(NF1):c.1173C>T (p.Asn391=) http://identifiers.org/clinvar/185943 ^@ NM_001042492.2(NF1):c.1182T>C (p.Phe394=) http://identifiers.org/clinvar/185113 ^@ NM_001042492.2(NF1):c.1190G>C (p.Cys397Ser) http://identifiers.org/clinvar/185401 ^@ NM_001042492.2(NF1):c.1264G>A (p.Ala422Thr) http://identifiers.org/clinvar/184829 ^@ NM_001042492.2(NF1):c.1305C>T (p.His435=) http://identifiers.org/clinvar/185065 ^@ NM_001042492.2(NF1):c.1308G>A (p.Ser436=) http://identifiers.org/clinvar/186192 ^@ NM_001042492.2(NF1):c.1370A>T (p.His457Leu) http://identifiers.org/clinvar/186095 ^@ NM_001042492.2(NF1):c.1392G>A (p.Pro464=) http://identifiers.org/clinvar/186619 ^@ NM_001042492.2(NF1):c.1410A>C (p.Glu470Asp) http://identifiers.org/clinvar/184522 ^@ NM_001042492.2(NF1):c.1495C>T (p.Leu499=) http://identifiers.org/clinvar/185734 ^@ NM_001042492.2(NF1):c.1548C>T (p.Pro516=) http://identifiers.org/clinvar/186560 ^@ NM_001042492.2(NF1):c.1587C>T (p.Leu529=) http://identifiers.org/clinvar/186578 ^@ NM_001042492.2(NF1):c.1593A>G (p.Gln531=) http://identifiers.org/clinvar/184523 ^@ NM_001042492.2(NF1):c.1599C>G (p.Val533=) http://identifiers.org/clinvar/187609 ^@ NM_001042492.2(NF1):c.1609C>T (p.His537Tyr) http://identifiers.org/clinvar/186553 ^@ NM_001042492.2(NF1):c.1620G>T (p.Glu540Asp) http://identifiers.org/clinvar/185470 ^@ NM_001042492.2(NF1):c.1642-4T>C http://identifiers.org/clinvar/187554 ^@ NM_001042492.2(NF1):c.1701A>G (p.Val567=) http://identifiers.org/clinvar/185910 ^@ NM_001042492.2(NF1):c.1740C>T (p.Tyr580=) http://identifiers.org/clinvar/186215 ^@ NM_001042492.2(NF1):c.1756_1759delACTA (p.Thr586Valfs) http://identifiers.org/clinvar/186812 ^@ NM_001042492.2(NF1):c.1775G>A (p.Ser592Asn) http://identifiers.org/clinvar/185162 ^@ NM_001042492.2(NF1):c.1803G>T (p.Arg601=) http://identifiers.org/clinvar/186321 ^@ NM_001042492.2(NF1):c.1806A>G (p.Glu602=) http://identifiers.org/clinvar/184133 ^@ NM_001042492.2(NF1):c.1810T>C (p.Leu604=) http://identifiers.org/clinvar/184167 ^@ NM_001042492.2(NF1):c.1884C>T (p.Tyr628=) http://identifiers.org/clinvar/184452 ^@ NM_001042492.2(NF1):c.1891G>A (p.Gly631Arg) http://identifiers.org/clinvar/184758 ^@ NM_001042492.2(NF1):c.1926A>G (p.Gln642=) http://identifiers.org/clinvar/185762 ^@ NM_001042492.2(NF1):c.1954C>T (p.Arg652Cys) http://identifiers.org/clinvar/186846 ^@ NM_001042492.2(NF1):c.1974C>T (p.Leu658=) http://identifiers.org/clinvar/184227 ^@ NM_001042492.2(NF1):c.1975C>T (p.Arg659Trp) http://identifiers.org/clinvar/184221 ^@ NM_001042492.2(NF1):c.1976G>A (p.Arg659Gln) http://identifiers.org/clinvar/184278 ^@ NM_001042492.2(NF1):c.1987G>A (p.Gly663Arg) http://identifiers.org/clinvar/186476 ^@ NM_001042492.2(NF1):c.1999A>G (p.Met667Val) http://identifiers.org/clinvar/187352 ^@ NM_001042492.2(NF1):c.2002-4_2002-3delTC http://identifiers.org/clinvar/185768 ^@ NM_001042492.2(NF1):c.2010A>G (p.Ala670=) http://identifiers.org/clinvar/186954 ^@ NM_001042492.2(NF1):c.2013A>G (p.Ala671=) http://identifiers.org/clinvar/186018 ^@ NM_001042492.2(NF1):c.2014G>A (p.Gly672Arg) http://identifiers.org/clinvar/184886 ^@ NM_001042492.2(NF1):c.2019C>T (p.Cys673=) http://identifiers.org/clinvar/186638 ^@ NM_001042492.2(NF1):c.2032C>A (p.Pro678Thr) http://identifiers.org/clinvar/185532 ^@ NM_001042492.2(NF1):c.2032C>T (p.Pro678Ser) http://identifiers.org/clinvar/183826 ^@ NM_001042492.2(NF1):c.2034G>A (p.Pro678=) http://identifiers.org/clinvar/184891 ^@ NM_001042492.2(NF1):c.2042G>A (p.Arg681Gln) http://identifiers.org/clinvar/187039 ^@ NM_001042492.2(NF1):c.2073G>C (p.Leu691=) http://identifiers.org/clinvar/184381 ^@ NM_001042492.2(NF1):c.2133C>T (p.Arg711=) http://identifiers.org/clinvar/184280 ^@ NM_001042492.2(NF1):c.2178G>C (p.Val726=) http://identifiers.org/clinvar/186442 ^@ NM_001042492.2(NF1):c.2178delG (p.Ser727Glnfs) http://identifiers.org/clinvar/186662 ^@ NM_001042492.2(NF1):c.2188A>T (p.Asn730Tyr) http://identifiers.org/clinvar/185893 ^@ NM_001042492.2(NF1):c.2191C>T (p.Leu731Phe) http://identifiers.org/clinvar/184972 ^@ NM_001042492.2(NF1):c.2230G>A (p.Val744Ile) http://identifiers.org/clinvar/185011 ^@ NM_001042492.2(NF1):c.2233A>G (p.Ser745Gly) http://identifiers.org/clinvar/185815 ^@ NM_001042492.2(NF1):c.2244G>A (p.Met748Ile) http://identifiers.org/clinvar/185917 ^@ NM_001042492.2(NF1):c.2248A>G (p.Thr750Ala) http://identifiers.org/clinvar/185107 ^@ NM_001042492.2(NF1):c.2251+5A>G http://identifiers.org/clinvar/185850 ^@ NM_001042492.2(NF1):c.2281G>C (p.Ala761Pro) http://identifiers.org/clinvar/187197 ^@ NM_001042492.2(NF1):c.2306C>G (p.Pro769Arg) http://identifiers.org/clinvar/186468 ^@ NM_001042492.2(NF1):c.2408A>G (p.Gln803Arg) http://identifiers.org/clinvar/184779 ^@ NM_001042492.2(NF1):c.2421C>T (p.Ser807=) http://identifiers.org/clinvar/185592 ^@ NM_001042492.2(NF1):c.2456A>C (p.His819Pro) http://identifiers.org/clinvar/185170 ^@ NM_001042492.2(NF1):c.2458G>A (p.Val820Met) http://identifiers.org/clinvar/184700 ^@ NM_001042492.2(NF1):c.2490C>T (p.Asp830=) http://identifiers.org/clinvar/183949 ^@ NM_001042492.2(NF1):c.2544G>A (p.Gly848=) http://identifiers.org/clinvar/184331 ^@ NM_001042492.2(NF1):c.2547A>C (p.Gly849=) http://identifiers.org/clinvar/187414 ^@ NM_001042492.2(NF1):c.2564G>C (p.Arg855Thr) http://identifiers.org/clinvar/185364 ^@ NM_001042492.2(NF1):c.2573C>G (p.Ser858Cys) http://identifiers.org/clinvar/186610 ^@ NM_001042492.2(NF1):c.2594C>T (p.Pro865Leu) http://identifiers.org/clinvar/184534 ^@ NM_001042492.2(NF1):c.2622G>A (p.Lys874=) http://identifiers.org/clinvar/185771 ^@ NM_001042492.2(NF1):c.2640G>A (p.Val880=) http://identifiers.org/clinvar/184887 ^@ NM_001042492.2(NF1):c.2652G>A (p.Glu884=) http://identifiers.org/clinvar/184587 ^@ NM_001042492.2(NF1):c.2658C>T (p.Asn886=) http://identifiers.org/clinvar/187315 ^@ NM_001042492.2(NF1):c.2712T>C (p.Cys904=) http://identifiers.org/clinvar/186030 ^@ NM_001042492.2(NF1):c.2736A>G (p.Gln912=) http://identifiers.org/clinvar/184962 ^@ NM_001042492.2(NF1):c.2803A>C (p.Asn935His) http://identifiers.org/clinvar/185759 ^@ NM_001042492.2(NF1):c.2921A>G (p.Asn974Ser) http://identifiers.org/clinvar/184057 ^@ NM_001042492.2(NF1):c.2985G>C (p.Leu995=) http://identifiers.org/clinvar/186250 ^@ NM_001042492.2(NF1):c.2999G>T (p.Arg1000Leu) http://identifiers.org/clinvar/187513 ^@ NM_001042492.2(NF1):c.3009G>T (p.Gly1003=) http://identifiers.org/clinvar/186307 ^@ NM_001042492.2(NF1):c.3024A>G (p.Ala1008=) http://identifiers.org/clinvar/186673 ^@ NM_001042492.2(NF1):c.3038C>T (p.Thr1013Met) http://identifiers.org/clinvar/187341 ^@ NM_001042492.2(NF1):c.3070G>A (p.Ala1024Thr) http://identifiers.org/clinvar/184805 ^@ NM_001042492.2(NF1):c.3111T>C (p.Phe1037=) http://identifiers.org/clinvar/185239 ^@ NM_001042492.2(NF1):c.3208C>T (p.Gln1070Ter) http://identifiers.org/clinvar/185313 ^@ NM_001042492.2(NF1):c.3213A>G (p.Ala1071=) http://identifiers.org/clinvar/184233 ^@ NM_001042492.2(NF1):c.3270A>C (p.Gly1090=) http://identifiers.org/clinvar/186480 ^@ NM_001042492.2(NF1):c.3375G>A (p.Ala1125=) http://identifiers.org/clinvar/184927 ^@ NM_001042492.2(NF1):c.3375G>T (p.Ala1125=) http://identifiers.org/clinvar/185963 ^@ NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs) http://identifiers.org/clinvar/186659 ^@ NM_001042492.2(NF1):c.3461A>G (p.Asn1154Ser) http://identifiers.org/clinvar/184364 ^@ NM_001042492.2(NF1):c.3468C>T (p.Asn1156=) http://identifiers.org/clinvar/186264 ^@ NM_001042492.2(NF1):c.3478G>T (p.Gly1160Cys) http://identifiers.org/clinvar/185921 ^@ NM_001042492.2(NF1):c.3496+5G>C http://identifiers.org/clinvar/187343 ^@ NM_001042492.2(NF1):c.3538A>G (p.Met1180Val) http://identifiers.org/clinvar/187649 ^@ NM_001042492.2(NF1):c.3621A>G (p.Arg1207=) http://identifiers.org/clinvar/184274 ^@ NM_001042492.2(NF1):c.3636C>A (p.Val1212=) http://identifiers.org/clinvar/185096 ^@ NM_001042492.2(NF1):c.3686A>G (p.Asn1229Ser) http://identifiers.org/clinvar/186368 ^@ NM_001042492.2(NF1):c.3690G>A (p.Val1230=) http://identifiers.org/clinvar/187226 ^@ NM_001042492.2(NF1):c.3722G>A (p.Arg1241Gln) http://identifiers.org/clinvar/186782 ^@ NM_001042492.2(NF1):c.3732T>A (p.Val1244=) http://identifiers.org/clinvar/187288 ^@ NM_001042492.2(NF1):c.3733A>T (p.Thr1245Ser) http://identifiers.org/clinvar/184300 ^@ NM_001042492.2(NF1):c.3765A>G (p.Gln1255=) http://identifiers.org/clinvar/184727 ^@ NM_001042492.2(NF1):c.3786T>C (p.Ser1262=) http://identifiers.org/clinvar/184260 ^@ NM_001042492.2(NF1):c.3801G>A (p.Leu1267=) http://identifiers.org/clinvar/187286 ^@ NM_001042492.2(NF1):c.3821dupT (p.Phe1275Leufs) http://identifiers.org/clinvar/187377 ^@ NM_001042492.2(NF1):c.3867C>G (p.Phe1289Leu) http://identifiers.org/clinvar/184320 ^@ NM_001042492.2(NF1):c.3867C>T (p.Phe1289=) http://identifiers.org/clinvar/185777 ^@ NM_001042492.2(NF1):c.3883A>G (p.Thr1295Ala) http://identifiers.org/clinvar/187148 ^@ NM_001042492.2(NF1):c.3893A>G (p.Gln1298Arg) http://identifiers.org/clinvar/187137 ^@ NM_001042492.2(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302Tyrfs) http://identifiers.org/clinvar/184818 ^@ NM_001042492.2(NF1):c.3906T>G (p.Asp1302Glu) http://identifiers.org/clinvar/187350 ^@ NM_001042492.2(NF1):c.3970A>G (p.Thr1324Ala) http://identifiers.org/clinvar/185507 ^@ NM_001042492.2(NF1):c.3975-5dupT http://identifiers.org/clinvar/184987 ^@ NM_001042492.2(NF1):c.4043A>G (p.His1348Arg) http://identifiers.org/clinvar/186716 ^@ NM_001042492.2(NF1):c.4059C>A (p.Ser1353=) http://identifiers.org/clinvar/185493 ^@ NM_001042492.2(NF1):c.4111-4G>A http://identifiers.org/clinvar/186488 ^@ NM_001042492.2(NF1):c.4118G>A (p.Cys1373Tyr) http://identifiers.org/clinvar/185155 ^@ NM_001042492.2(NF1):c.4120C>T (p.His1374Tyr) http://identifiers.org/clinvar/185974 ^@ NM_001042492.2(NF1):c.4174-3T>C http://identifiers.org/clinvar/185056 ^@ NM_001042492.2(NF1):c.4227G>C (p.Met1409Ile) http://identifiers.org/clinvar/186072 ^@ NM_001042492.2(NF1):c.4230C>T (p.Phe1410=) http://identifiers.org/clinvar/187392 ^@ NM_001042492.2(NF1):c.4252A>G (p.Ile1418Val) http://identifiers.org/clinvar/185237 ^@ NM_001042492.2(NF1):c.4263G>A (p.Pro1421=) http://identifiers.org/clinvar/184231 ^@ NM_001042492.2(NF1):c.4269A>G (p.Glu1423=) http://identifiers.org/clinvar/184429 ^@ NM_001042492.2(NF1):c.4321T>C (p.Leu1441=) http://identifiers.org/clinvar/187252 ^@ NM_001042492.2(NF1):c.4385G>A (p.Arg1462Gln) http://identifiers.org/clinvar/185835 ^@ NM_001042492.2(NF1):c.4394A>G (p.Asn1465Ser) http://identifiers.org/clinvar/185497 ^@ NM_001042492.2(NF1):c.4495A>G (p.Ile1499Val) http://identifiers.org/clinvar/184707 ^@ NM_001042492.2(NF1):c.4500T>C (p.Ser1500=) http://identifiers.org/clinvar/186666 ^@ NM_001042492.2(NF1):c.4503C>T (p.Asp1501=) http://identifiers.org/clinvar/186998 ^@ NM_001042492.2(NF1):c.4546G>C (p.Glu1516Gln) http://identifiers.org/clinvar/184428 ^@ NM_001042492.2(NF1):c.4665A>C (p.Ala1555=) http://identifiers.org/clinvar/184594 ^@ NM_001042492.2(NF1):c.4749A>G (p.Glu1583=) http://identifiers.org/clinvar/185617 ^@ NM_001042492.2(NF1):c.4803T>C (p.Ala1601=) http://identifiers.org/clinvar/184157 ^@ NM_001042492.2(NF1):c.4835+5G>C http://identifiers.org/clinvar/184766 ^@ NM_001042492.2(NF1):c.4836-3T>C http://identifiers.org/clinvar/184492 ^@ NM_001042492.2(NF1):c.4851A>G (p.Gln1617=) http://identifiers.org/clinvar/184058 ^@ NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) http://identifiers.org/clinvar/186332 ^@ NM_001042492.2(NF1):c.4904A>G (p.Tyr1635Cys) http://identifiers.org/clinvar/184149 ^@ NM_001042492.2(NF1):c.4929G>A (p.Val1643=) http://identifiers.org/clinvar/186765 ^@ NM_001042492.2(NF1):c.4944C>T (p.Thr1648=) http://identifiers.org/clinvar/187405 ^@ NM_001042492.2(NF1):c.4975C>G (p.Leu1659Val) http://identifiers.org/clinvar/186756 ^@ NM_001042492.2(NF1):c.5019C>T (p.Asn1673=) http://identifiers.org/clinvar/186815 ^@ NM_001042492.2(NF1):c.5032T>C (p.Tyr1678His) http://identifiers.org/clinvar/184710 ^@ NM_001042492.2(NF1):c.5049C>T (p.Asn1683=) http://identifiers.org/clinvar/186093 ^@ NM_001042492.2(NF1):c.5087T>C (p.Leu1696Pro) http://identifiers.org/clinvar/187231 ^@ NM_001042492.2(NF1):c.5088G>A (p.Leu1696=) http://identifiers.org/clinvar/185450 ^@ NM_001042492.2(NF1):c.5139G>A (p.Gly1713=) http://identifiers.org/clinvar/184131 ^@ NM_001042492.2(NF1):c.5235G>A (p.Lys1745=) http://identifiers.org/clinvar/187517 ^@ NM_001042492.2(NF1):c.5381T>C (p.Val1794Ala) http://identifiers.org/clinvar/184959 ^@ NM_001042492.2(NF1):c.5424G>A (p.Thr1808=) http://identifiers.org/clinvar/185791 ^@ NM_001042492.2(NF1):c.5458A>C (p.Ile1820Leu) http://identifiers.org/clinvar/185445 ^@ NM_001042492.2(NF1):c.5503C>G (p.Gln1835Glu) http://identifiers.org/clinvar/185914 ^@ NM_001042492.2(NF1):c.5508C>T (p.Pro1836=) http://identifiers.org/clinvar/184716 ^@ NM_001042492.2(NF1):c.5520C>A (p.Pro1840=) http://identifiers.org/clinvar/187233 ^@ NM_001042492.2(NF1):c.5521C>A (p.Gln1841Lys) http://identifiers.org/clinvar/187027 ^@ NM_001042492.2(NF1):c.5572G>A (p.Ala1858Thr) http://identifiers.org/clinvar/185354 ^@ NM_001042492.2(NF1):c.5609G>A (p.Arg1870Gln) http://identifiers.org/clinvar/186934 ^@ NM_001042492.2(NF1):c.5619C>G (p.Ala1873=) http://identifiers.org/clinvar/186905 ^@ NM_001042492.2(NF1):c.5724T>C (p.Ile1908=) http://identifiers.org/clinvar/185542 ^@ NM_001042492.2(NF1):c.5731A>G (p.Ile1911Val) http://identifiers.org/clinvar/186792 ^@ NM_001042492.2(NF1):c.5753A>G (p.Asn1918Ser) http://identifiers.org/clinvar/184188 ^@ NM_001042492.2(NF1):c.5757G>A (p.Glu1919=) http://identifiers.org/clinvar/187560 ^@ NM_001042492.2(NF1):c.5768C>T (p.Thr1923Met) http://identifiers.org/clinvar/187652 ^@ NM_001042492.2(NF1):c.5782G>T (p.Glu1928Ter) http://identifiers.org/clinvar/185958 ^@ NM_001042492.2(NF1):c.5787G>C (p.Glu1929Asp) http://identifiers.org/clinvar/187736 ^@ NM_001042492.2(NF1):c.5793T>C (p.Ile1931=) http://identifiers.org/clinvar/184711 ^@ NM_001042492.2(NF1):c.5883G>A (p.Lys1961=) http://identifiers.org/clinvar/185913 ^@ NM_001042492.2(NF1):c.5906A>T (p.Gln1969Leu) http://identifiers.org/clinvar/185840 ^@ NM_001042492.2(NF1):c.5925T>C (p.Leu1975=) http://identifiers.org/clinvar/184761 ^@ NM_001042492.2(NF1):c.5931G>A (p.Lys1977=) http://identifiers.org/clinvar/187307 ^@ NM_001042492.2(NF1):c.5961G>A (p.Gln1987=) http://identifiers.org/clinvar/185095 ^@ NM_001042492.2(NF1):c.6022G>A (p.Asp2008Asn) http://identifiers.org/clinvar/186544 ^@ NM_001042492.2(NF1):c.6033A>G (p.Leu2011=) http://identifiers.org/clinvar/186545 ^@ NM_001042492.2(NF1):c.6171A>T (p.Ile2057=) http://identifiers.org/clinvar/185551 ^@ NM_001042492.2(NF1):c.6264G>A (p.Leu2088=) http://identifiers.org/clinvar/187195 ^@ NM_001042492.2(NF1):c.6288G>A (p.Val2096=) http://identifiers.org/clinvar/186916 ^@ NM_001042492.2(NF1):c.6315C>T (p.His2105=) http://identifiers.org/clinvar/187303 ^@ NM_001042492.2(NF1):c.6325T>A (p.Phe2109Ile) http://identifiers.org/clinvar/185087 ^@ NM_001042492.2(NF1):c.6345G>A (p.Pro2115=) http://identifiers.org/clinvar/184762 ^@ NM_001042492.2(NF1):c.6375G>A (p.Leu2125=) http://identifiers.org/clinvar/186601 ^@ NM_001042492.2(NF1):c.6387C>T (p.Ile2129=) http://identifiers.org/clinvar/184228 ^@ NM_001042492.2(NF1):c.6393C>T (p.His2131=) http://identifiers.org/clinvar/185376 ^@ NM_001042492.2(NF1):c.6428-3C>T http://identifiers.org/clinvar/187533 ^@ NM_001042492.2(NF1):c.6520_6538del19 (p.Ala2174Profs) http://identifiers.org/clinvar/184643 ^@ NM_001042492.2(NF1):c.6528T>C (p.Ile2176=) http://identifiers.org/clinvar/185148 ^@ NM_001042492.2(NF1):c.6552C>T (p.Asp2184=) http://identifiers.org/clinvar/186748 ^@ NM_001042492.2(NF1):c.6555G>A (p.Arg2185=) http://identifiers.org/clinvar/184684 ^@ NM_001042492.2(NF1):c.6558A>C (p.Ser2186=) http://identifiers.org/clinvar/184846 ^@ NM_001042492.2(NF1):c.6624T>C (p.Ala2208=) http://identifiers.org/clinvar/184213 ^@ NM_001042492.2(NF1):c.6628T>C (p.Leu2210=) http://identifiers.org/clinvar/187569 ^@ NM_001042492.2(NF1):c.6657T>G (p.Asp2219Glu) http://identifiers.org/clinvar/185829 ^@ NM_001042492.2(NF1):c.6664A>G (p.Thr2222Ala) http://identifiers.org/clinvar/186514 ^@ NM_001042492.2(NF1):c.6665C>T (p.Thr2222Met) http://identifiers.org/clinvar/186677 ^@ NM_001042492.2(NF1):c.6666G>C (p.Thr2222=) http://identifiers.org/clinvar/185805 ^@ NM_001042492.2(NF1):c.6704+3A>G http://identifiers.org/clinvar/185248 ^@ NM_001042492.2(NF1):c.6773G>A (p.Arg2258Gln) http://identifiers.org/clinvar/185082 ^@ NM_001042492.2(NF1):c.6855C>A (p.Tyr2285Ter) http://identifiers.org/clinvar/207526 ^@ NM_001083962.1(TCF4):c.1929G>C (p.Glu643Asp) http://identifiers.org/clinvar/207525 ^@ NM_001083962.1(TCF4):c.1704G>A (p.Glu568=) http://identifiers.org/clinvar/207535 ^@ NM_001083962.1(TCF4):c.1586C>T (p.Ser529Leu) http://identifiers.org/clinvar/207534 ^@ NM_001083962.1(TCF4):c.1570C>T (p.Gln524Ter) http://identifiers.org/clinvar/207543 ^@ NM_001083962.1(TCF4):c.1505_1518delAGGGGCAGAGTGTC (p.Gln502Leufs) http://identifiers.org/clinvar/207547 ^@ NM_001083962.1(TCF4):c.1316C>T (p.Thr439Ile) http://identifiers.org/clinvar/207542 ^@ NM_001083962.1(TCF4):c.736_738delTCT (p.Ser246del) http://identifiers.org/clinvar/207541 ^@ NM_001083962.1(TCF4):c.680_682delGGAinsT (p.Trp227Leufs) http://identifiers.org/clinvar/207546 ^@ NM_001083962.1(TCF4):c.584A>G (p.Asn195Ser) http://identifiers.org/clinvar/207540 ^@ NM_001083962.1(TCF4):c.516_517dupAG (p.Val173Glufs) http://identifiers.org/clinvar/207533 ^@ NM_001083962.1(TCF4):c.508A>G (p.Thr170Ala) http://identifiers.org/clinvar/207532 ^@ NM_001083962.1(TCF4):c.413C>G (p.Thr138Ser) http://identifiers.org/clinvar/207531 ^@ NM_001083962.1(TCF4):c.410G>A (p.Gly137Glu) http://identifiers.org/clinvar/207530 ^@ NM_001083962.1(TCF4):c.389A>G (p.Asp130Gly) http://identifiers.org/clinvar/207523 ^@ NM_001083962.1(TCF4):c.370-14T>C http://identifiers.org/clinvar/207529 ^@ NM_001083962.1(TCF4):c.305G>A (p.Ser102Asn) http://identifiers.org/clinvar/207539 ^@ NM_001083962.1(TCF4):c.124A>G (p.Ser42Gly) http://identifiers.org/clinvar/207522 ^@ NM_001083962.1(TCF4):c.-29G>A http://identifiers.org/clinvar/207521 ^@ NM_001083962.1(TCF4):c.-37C>T http://identifiers.org/clinvar/205596 ^@ NM_000156.5(GAMT):c.707G>C (p.Gly236Ala) http://identifiers.org/clinvar/205595 ^@ NM_000156.5(GAMT):c.689C>T (p.Thr230Met) http://identifiers.org/clinvar/205594 ^@ NM_000156.5(GAMT):c.677C>T (p.Pro226Leu) http://identifiers.org/clinvar/205593 ^@ NM_000156.5(GAMT):c.670G>A (p.Ala224Thr) http://identifiers.org/clinvar/205569 ^@ NM_000156.5(GAMT):c.655G>A (p.Asp219Asn) http://identifiers.org/clinvar/205592 ^@ NM_000156.5(GAMT):c.650C>T (p.Pro217Leu) http://identifiers.org/clinvar/205590 ^@ NM_000156.5(GAMT):c.608G>A (p.Arg203Gln) http://identifiers.org/clinvar/205589 ^@ NM_000156.5(GAMT):c.601G>A (p.Gly201Ser) http://identifiers.org/clinvar/205568 ^@ NM_000156.5(GAMT):c.600C>T (p.Ala200=) http://identifiers.org/clinvar/205588 ^@ NM_000156.5(GAMT):c.587C>T (p.Ala196Val) http://identifiers.org/clinvar/205606 ^@ NM_000156.5(GAMT):c.581T>C (p.Val194Ala) http://identifiers.org/clinvar/205582 ^@ NM_000156.5(GAMT):c.575C>T (p.Thr192Met) http://identifiers.org/clinvar/205587 ^@ NM_000156.5(GAMT):c.527A>C (p.Glu176Ala) http://identifiers.org/clinvar/205586 ^@ NM_000156.5(GAMT):c.526G>T (p.Glu176Ter) http://identifiers.org/clinvar/205585 ^@ NM_000156.5(GAMT):c.523G>C (p.Gly175Arg) http://identifiers.org/clinvar/205584 ^@ NM_000156.5(GAMT):c.522G>A (p.Trp174Ter) http://identifiers.org/clinvar/205583 ^@ NM_000156.5(GAMT):c.511C>G (p.Leu171Val) http://identifiers.org/clinvar/205581 ^@ NM_000156.5(GAMT):c.491G>A (p.Gly164Asp) http://identifiers.org/clinvar/205567 ^@ NM_000156.5(GAMT):c.379G>A (p.Gly127Ser) http://identifiers.org/clinvar/205566 ^@ NM_000156.5(GAMT):c.331A>C (p.Ile111Leu) http://identifiers.org/clinvar/205580 ^@ NM_000156.5(GAMT):c.328G>T (p.Val110Phe) http://identifiers.org/clinvar/205565 ^@ NM_000156.5(GAMT):c.312A>G (p.Pro104=) http://identifiers.org/clinvar/205579 ^@ NM_000156.5(GAMT):c.298C>T (p.Arg100Trp) http://identifiers.org/clinvar/205578 ^@ NM_000156.5(GAMT):c.291G>T (p.Gln97His) http://identifiers.org/clinvar/205607 ^@ NM_000156.5(GAMT):c.265_267delATC (p.Ile89del) http://identifiers.org/clinvar/205577 ^@ NM_000156.5(GAMT):c.248T>A (p.Ile83Asn) http://identifiers.org/clinvar/205576 ^@ NM_000156.5(GAMT):c.242C>T (p.Ala81Val) http://identifiers.org/clinvar/205604 ^@ NM_000156.5(GAMT):c.169_171dupGCC (p.Ala57_Ser58insAla) http://identifiers.org/clinvar/205603 ^@ NM_000156.5(GAMT):c.154_155delGCinsTT (p.Ala52Leu) http://identifiers.org/clinvar/205602 ^@ NM_000156.5(GAMT):c.128A>G (p.Glu43Gly) http://identifiers.org/clinvar/205601 ^@ NM_000156.5(GAMT):c.124A>G (p.Met42Val) http://identifiers.org/clinvar/205599 ^@ NM_000156.5(GAMT):c.68C>T (p.Ala23Val) http://identifiers.org/clinvar/205598 ^@ NM_000156.5(GAMT):c.22C>A (p.Pro8Thr) http://identifiers.org/clinvar/205597 ^@ NM_000156.5(GAMT):c.17C>T (p.Ala6Val) http://identifiers.org/clinvar/205575 ^@ NM_000156.5(GAMT):c.7G>T (p.Ala3Ser) http://identifiers.org/clinvar/205573 ^@ NM_000156.5(GAMT):c.-23C>T http://identifiers.org/clinvar/205572 ^@ NM_000156.5(GAMT):c.-27A>C http://identifiers.org/clinvar/205571 ^@ NM_000156.5(GAMT):c.-31A>G http://identifiers.org/clinvar/205570 ^@ NM_000156.5(GAMT):c.-44C>T http://identifiers.org/clinvar/206420 ^@ NM_007254.3(PNKP):c.1545C>G (p.Tyr515Ter) http://identifiers.org/clinvar/206432 ^@ NM_007254.3(PNKP):c.1524G>C (p.Glu508Asp) http://identifiers.org/clinvar/206419 ^@ NM_007254.3(PNKP):c.1510C>G (p.Arg504Gly) http://identifiers.org/clinvar/206377 ^@ NM_007254.3(PNKP):c.1449-19C>A http://identifiers.org/clinvar/206376 ^@ NM_007254.3(PNKP):c.1441G>A (p.Gly481Ser) http://identifiers.org/clinvar/206418 ^@ NM_007254.3(PNKP):c.1432G>A (p.Val478Ile) http://identifiers.org/clinvar/206417 ^@ NM_007254.3(PNKP):c.1429A>G (p.Met477Val) http://identifiers.org/clinvar/206416 ^@ NM_007254.3(PNKP):c.1412A>T (p.His471Leu) http://identifiers.org/clinvar/206415 ^@ NM_007254.3(PNKP):c.1391G>C (p.Arg464Pro) http://identifiers.org/clinvar/206375 ^@ NM_007254.3(PNKP):c.1387-3_1387-2del http://identifiers.org/clinvar/206414 ^@ NM_007254.3(PNKP):c.1385G>C (p.Arg462Pro) http://identifiers.org/clinvar/206430 ^@ NM_007254.3(PNKP):c.1381_1383delAAC (p.Asn461del) http://identifiers.org/clinvar/206374 ^@ NM_007254.3(PNKP):c.1329C>T (p.Val443=) http://identifiers.org/clinvar/206413 ^@ NM_007254.3(PNKP):c.1324G>A (p.Gly442Ser) http://identifiers.org/clinvar/206412 ^@ NM_007254.3(PNKP):c.1322C>G (p.Ala441Gly) http://identifiers.org/clinvar/206429 ^@ NM_007254.3(PNKP):c.1317_1321dupAGCCG (p.Ala441Glufs) http://identifiers.org/clinvar/206411 ^@ NM_007254.3(PNKP):c.1308G>C (p.Gln436His) http://identifiers.org/clinvar/206428 ^@ NM_007254.3(PNKP):c.1286_1298+6dup19 http://identifiers.org/clinvar/206427 ^@ NM_007254.3(PNKP):c.1293_1298+2dupCGCCAGGT http://identifiers.org/clinvar/206426 ^@ NM_007254.3(PNKP):c.1288_1294dupAGCCGCG (p.Ala432Glufs) http://identifiers.org/clinvar/206410 ^@ NM_007254.3(PNKP):c.1274A>G (p.Asn425Ser) http://identifiers.org/clinvar/206409 ^@ NM_007254.3(PNKP):c.1258G>T (p.Ala420Ser) http://identifiers.org/clinvar/206408 ^@ NM_007254.3(PNKP):c.1256T>A (p.Val419Asp) http://identifiers.org/clinvar/206407 ^@ NM_007254.3(PNKP):c.1255G>A (p.Val419Ile) http://identifiers.org/clinvar/206406 ^@ NM_007254.3(PNKP):c.1189-2A>C http://identifiers.org/clinvar/206405 ^@ NM_007254.3(PNKP):c.1145T>C (p.Leu382Pro) http://identifiers.org/clinvar/206404 ^@ NM_007254.3(PNKP):c.1129G>A (p.Gly377Arg) http://identifiers.org/clinvar/206425 ^@ NM_007254.3(PNKP):c.1126+3_1126+4dupAA http://identifiers.org/clinvar/206434 ^@ NM_007254.3(PNKP):c.1074_1085delGGCCCTCCTGAG (p.Arg358_Leu361del) http://identifiers.org/clinvar/206401 ^@ NM_007254.3(PNKP):c.1029+2T>C http://identifiers.org/clinvar/206400 ^@ NM_007254.3(PNKP):c.1029G>A (p.Pro343=) http://identifiers.org/clinvar/206399 ^@ NM_007254.3(PNKP):c.1003G>T (p.Gly335Cys) http://identifiers.org/clinvar/206398 ^@ NM_007254.3(PNKP):c.992G>A (p.Trp331Ter) http://identifiers.org/clinvar/206371 ^@ NM_007254.3(PNKP):c.936+17dupC http://identifiers.org/clinvar/206397 ^@ NM_007254.3(PNKP):c.883G>A (p.Ala295Thr) http://identifiers.org/clinvar/206396 ^@ NM_007254.3(PNKP):c.767G>A (p.Gly256Asp) http://identifiers.org/clinvar/206395 ^@ NM_007254.3(PNKP):c.758C>T (p.Thr253Met) http://identifiers.org/clinvar/206394 ^@ NM_007254.3(PNKP):c.736C>T (p.Pro246Ser) http://identifiers.org/clinvar/206393 ^@ NM_007254.3(PNKP):c.713C>T (p.Ala238Val) http://identifiers.org/clinvar/206392 ^@ NM_007254.3(PNKP):c.673G>A (p.Gly225Arg) http://identifiers.org/clinvar/206391 ^@ NM_007254.3(PNKP):c.670C>T (p.Arg224Cys) http://identifiers.org/clinvar/206390 ^@ NM_007254.3(PNKP):c.668G>T (p.Gly223Val) http://identifiers.org/clinvar/206389 ^@ NM_007254.3(PNKP):c.666C>G (p.Ile222Met) http://identifiers.org/clinvar/206388 ^@ NM_007254.3(PNKP):c.610C>T (p.Arg204Ter) http://identifiers.org/clinvar/206424 ^@ NM_007254.3(PNKP):c.603dupT (p.Lys202Terfs) http://identifiers.org/clinvar/206387 ^@ NM_007254.3(PNKP):c.490C>T (p.Gln164Ter) http://identifiers.org/clinvar/206386 ^@ NM_007254.3(PNKP):c.422G>A (p.Arg141Gln) http://identifiers.org/clinvar/206385 ^@ NM_007254.3(PNKP):c.407C>T (p.Pro136Leu) http://identifiers.org/clinvar/206384 ^@ NM_007254.3(PNKP):c.406C>G (p.Pro136Ala) http://identifiers.org/clinvar/206382 ^@ NM_007254.3(PNKP):c.235T>G (p.Leu79Val) http://identifiers.org/clinvar/206431 ^@ NM_007254.3(PNKP):c.203G>C (p.Gly68Ala) http://identifiers.org/clinvar/206381 ^@ NM_007254.3(PNKP):c.179G>A (p.Arg60Gln) http://identifiers.org/clinvar/206423 ^@ NM_007254.3(PNKP):c.83G>A (p.Gly28Glu) http://identifiers.org/clinvar/206422 ^@ NM_007254.3(PNKP):c.47C>A (p.Pro16His) http://identifiers.org/clinvar/206403 ^@ NM_007254.3(PNKP):c.30G>T (p.Leu10Phe) http://identifiers.org/clinvar/206421 ^@ NM_007254.3(PNKP):c.19C>T (p.Pro7Ser) http://identifiers.org/clinvar/206380 ^@ NM_007254.3(PNKP):c.-3A>G http://identifiers.org/clinvar/206379 ^@ NM_007254.3(PNKP):c.-4C>G http://identifiers.org/clinvar/206378 ^@ NM_007254.3(PNKP):c.-11C>T http://identifiers.org/clinvar/206402 ^@ NM_007254.3(PNKP):c.-14+1G>T http://identifiers.org/clinvar/206373 ^@ NM_007254.3(PNKP):c.-32G>A http://identifiers.org/clinvar/206372 ^@ NM_007254.3(PNKP):c.-35T>C http://identifiers.org/clinvar/205041 ^@ NM_000744.6(CHRNA4):c.1861C>A (p.Pro621Thr) http://identifiers.org/clinvar/205055 ^@ NM_000744.6(CHRNA4):c.1859C>T (p.Pro620Leu) http://identifiers.org/clinvar/205054 ^@ NM_000744.6(CHRNA4):c.1847G>T (p.Gly616Val) http://identifiers.org/clinvar/205040 ^@ NM_000744.6(CHRNA4):c.1825G>A (p.Val609Ile) http://identifiers.org/clinvar/205039 ^@ NM_000744.6(CHRNA4):c.1757C>T (p.Ser586Leu) http://identifiers.org/clinvar/205038 ^@ NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His) http://identifiers.org/clinvar/205037 ^@ NM_000744.6(CHRNA4):c.1715A>G (p.Gln572Arg) http://identifiers.org/clinvar/205036 ^@ NM_000744.6(CHRNA4):c.1700C>T (p.Ala567Val) http://identifiers.org/clinvar/205035 ^@ NM_000744.6(CHRNA4):c.1700C>G (p.Ala567Gly) http://identifiers.org/clinvar/205004 ^@ NM_000744.6(CHRNA4):c.1645C>T (p.Arg549Cys) http://identifiers.org/clinvar/205052 ^@ NM_000744.6(CHRNA4):c.1645C>G (p.Arg549Gly) http://identifiers.org/clinvar/205003 ^@ NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) http://identifiers.org/clinvar/205002 ^@ NM_000744.6(CHRNA4):c.1560C>T (p.Leu520=) http://identifiers.org/clinvar/205001 ^@ NM_000744.6(CHRNA4):c.1550C>T (p.Ser517Leu) http://identifiers.org/clinvar/205000 ^@ NM_000744.6(CHRNA4):c.1532C>T (p.Ala511Val) http://identifiers.org/clinvar/205017 ^@ NM_000744.6(CHRNA4):c.1531G>T (p.Ala511Ser) http://identifiers.org/clinvar/205033 ^@ NM_000744.6(CHRNA4):c.1520C>T (p.Ala507Val) http://identifiers.org/clinvar/205032 ^@ NM_000744.6(CHRNA4):c.1510G>A (p.Gly504Ser) http://identifiers.org/clinvar/205031 ^@ NM_000744.6(CHRNA4):c.1448G>A (p.Arg483Gln) http://identifiers.org/clinvar/205030 ^@ NM_000744.6(CHRNA4):c.1430C>T (p.Ala477Val) http://identifiers.org/clinvar/205029 ^@ NM_000744.6(CHRNA4):c.1421C>G (p.Pro474Arg) http://identifiers.org/clinvar/205028 ^@ NM_000744.6(CHRNA4):c.1403T>C (p.Val468Ala) http://identifiers.org/clinvar/204998 ^@ NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser) http://identifiers.org/clinvar/204997 ^@ NM_000744.6(CHRNA4):c.1334C>T (p.Ser445Leu) http://identifiers.org/clinvar/205027 ^@ NM_000744.6(CHRNA4):c.1327C>G (p.His443Asp) http://identifiers.org/clinvar/205026 ^@ NM_000744.6(CHRNA4):c.1316A>C (p.Lys439Thr) http://identifiers.org/clinvar/205025 ^@ NM_000744.6(CHRNA4):c.1232C>A (p.Pro411His) http://identifiers.org/clinvar/205024 ^@ NM_000744.6(CHRNA4):c.1160A>G (p.Glu387Gly) http://identifiers.org/clinvar/205048 ^@ NM_000744.6(CHRNA4):c.1158_1160delCGAinsGGG (p.Glu387Gly) http://identifiers.org/clinvar/205023 ^@ NM_000744.6(CHRNA4):c.1145C>T (p.Pro382Leu) http://identifiers.org/clinvar/204996 ^@ NM_000744.6(CHRNA4):c.1116C>T (p.Ile372=) http://identifiers.org/clinvar/205022 ^@ NM_000744.6(CHRNA4):c.1108C>T (p.Arg370Trp) http://identifiers.org/clinvar/204995 ^@ NM_000744.6(CHRNA4):c.1095G>A (p.Lys365=) http://identifiers.org/clinvar/205021 ^@ NM_000744.6(CHRNA4):c.1012C>G (p.His338Asp) http://identifiers.org/clinvar/205020 ^@ NM_000744.6(CHRNA4):c.1006C>T (p.Arg336Cys) http://identifiers.org/clinvar/205019 ^@ NM_000744.6(CHRNA4):c.919G>A (p.Gly307Ser) http://identifiers.org/clinvar/205018 ^@ NM_000744.6(CHRNA4):c.622G>A (p.Glu208Lys) http://identifiers.org/clinvar/205016 ^@ NM_000744.6(CHRNA4):c.621C>T (p.Gly207=) http://identifiers.org/clinvar/205015 ^@ NM_000744.6(CHRNA4):c.560C>G (p.Ala187Gly) http://identifiers.org/clinvar/205014 ^@ NM_000744.6(CHRNA4):c.544T>C (p.Trp182Arg) http://identifiers.org/clinvar/205013 ^@ NM_000744.6(CHRNA4):c.521A>G (p.Asn174Ser) http://identifiers.org/clinvar/205012 ^@ NM_000744.6(CHRNA4):c.506C>G (p.Pro169Arg) http://identifiers.org/clinvar/205049 ^@ NM_000744.6(CHRNA4):c.400G>A (p.Ala134Thr) http://identifiers.org/clinvar/205046 ^@ NM_000744.6(CHRNA4):c.358C>T (p.Arg120Trp) http://identifiers.org/clinvar/205045 ^@ NM_000744.6(CHRNA4):c.296G>A (p.Arg99His) http://identifiers.org/clinvar/205044 ^@ NM_000744.6(CHRNA4):c.283G>A (p.Asp95Asn) http://identifiers.org/clinvar/205043 ^@ NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) http://identifiers.org/clinvar/205042 ^@ NM_000744.6(CHRNA4):c.88G>A (p.Val30Met) http://identifiers.org/clinvar/205010 ^@ NM_000744.6(CHRNA4):c.53T>G (p.Leu18Arg) http://identifiers.org/clinvar/205009 ^@ NM_000744.6(CHRNA4):c.41C>T (p.Pro14Leu) http://identifiers.org/clinvar/205008 ^@ NM_000744.6(CHRNA4):c.38C>G (p.Pro13Arg) http://identifiers.org/clinvar/205007 ^@ NM_000744.6(CHRNA4):c.16C>T (p.Pro6Ser) http://identifiers.org/clinvar/205047 ^@ NM_000744.6(CHRNA4):c.-1C>T http://identifiers.org/clinvar/205006 ^@ NM_000744.6(CHRNA4):c.-28C>T http://identifiers.org/clinvar/205938 ^@ NM_172107.3(KCNQ2):c.2584T>C (p.Phe862Leu) http://identifiers.org/clinvar/205937 ^@ NM_172107.3(KCNQ2):c.2572G>A (p.Gly858Ser) http://identifiers.org/clinvar/205853 ^@ NM_172107.3(KCNQ2):c.2571C>T (p.Thr857=) http://identifiers.org/clinvar/205936 ^@ NM_172107.3(KCNQ2):c.2555C>T (p.Pro852Leu) http://identifiers.org/clinvar/205935 ^@ NM_172107.3(KCNQ2):c.2543C>T (p.Pro848Leu) http://identifiers.org/clinvar/205852 ^@ NM_172107.3(KCNQ2):c.2535C>G (p.Leu845=) http://identifiers.org/clinvar/205934 ^@ NM_172107.3(KCNQ2):c.2465C>T (p.Ala822Val) http://identifiers.org/clinvar/205933 ^@ NM_172107.3(KCNQ2):c.2446G>A (p.Ala816Thr) http://identifiers.org/clinvar/205932 ^@ NM_172107.3(KCNQ2):c.2404T>C (p.Phe802Leu) http://identifiers.org/clinvar/205851 ^@ NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) http://identifiers.org/clinvar/205850 ^@ NM_172107.3(KCNQ2):c.2329C>T (p.Pro777Ser) http://identifiers.org/clinvar/205849 ^@ NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) http://identifiers.org/clinvar/205931 ^@ NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) http://identifiers.org/clinvar/205945 ^@ NM_172107.3(KCNQ2):c.2126_2127delCT (p.Pro709Argfs) http://identifiers.org/clinvar/205944 ^@ NM_172107.3(KCNQ2):c.2102_2104delTCT (p.Phe701del) http://identifiers.org/clinvar/205930 ^@ NM_172107.3(KCNQ2):c.2072G>A (p.Arg691His) http://identifiers.org/clinvar/205848 ^@ NM_172107.3(KCNQ2):c.2065A>C (p.Ile689Leu) http://identifiers.org/clinvar/205928 ^@ NM_172107.3(KCNQ2):c.2050G>A (p.Gly684Ser) http://identifiers.org/clinvar/205951 ^@ NM_172107.3(KCNQ2):c.1955C>T (p.Pro652Leu) http://identifiers.org/clinvar/205925 ^@ NM_172107.3(KCNQ2):c.1937A>G (p.Gln646Arg) http://identifiers.org/clinvar/205943 ^@ NM_172107.3(KCNQ2):c.1930dupT (p.Tyr644Leufs) http://identifiers.org/clinvar/205946 ^@ NM_172107.3(KCNQ2):c.1888delG (p.Val630Serfs) http://identifiers.org/clinvar/205950 ^@ NM_172107.3(KCNQ2):c.1887+1G>T http://identifiers.org/clinvar/205847 ^@ NM_172107.3(KCNQ2):c.1832C>T (p.Ala611Val) http://identifiers.org/clinvar/205924 ^@ NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) http://identifiers.org/clinvar/205923 ^@ NM_172107.3(KCNQ2):c.1810C>T (p.Arg604Cys) http://identifiers.org/clinvar/205922 ^@ NM_172107.3(KCNQ2):c.1793C>T (p.Ala598Val) http://identifiers.org/clinvar/205910 ^@ NM_172107.3(KCNQ2):c.1764-1G>C http://identifiers.org/clinvar/205921 ^@ NM_172107.3(KCNQ2):c.1757A>C (p.Gln586Pro) http://identifiers.org/clinvar/205920 ^@ NM_172107.3(KCNQ2):c.1742G>T (p.Arg581Leu) http://identifiers.org/clinvar/205942 ^@ NM_172107.3(KCNQ2):c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) http://identifiers.org/clinvar/205919 ^@ NM_172107.3(KCNQ2):c.1734G>C (p.Met578Ile) http://identifiers.org/clinvar/205917 ^@ NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn) http://identifiers.org/clinvar/205916 ^@ NM_172107.3(KCNQ2):c.1682C>T (p.Pro561Leu) http://identifiers.org/clinvar/205915 ^@ NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) http://identifiers.org/clinvar/205914 ^@ NM_172107.3(KCNQ2):c.1666A>G (p.Lys556Glu) http://identifiers.org/clinvar/205913 ^@ NM_172107.3(KCNQ2):c.1657C>T (p.Arg553Trp) http://identifiers.org/clinvar/205912 ^@ NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) http://identifiers.org/clinvar/205911 ^@ NM_172107.3(KCNQ2):c.1633G>A (p.Val545Ile) http://identifiers.org/clinvar/205909 ^@ NM_172107.3(KCNQ2):c.1632-1G>A http://identifiers.org/clinvar/205949 ^@ NM_172107.3(KCNQ2):c.1625C>T (p.Ala542Val) http://identifiers.org/clinvar/205907 ^@ NM_172107.3(KCNQ2):c.1573T>A (p.Cys525Ser) http://identifiers.org/clinvar/205948 ^@ NM_172107.3(KCNQ2):c.1540G>A (p.Gly514Arg) http://identifiers.org/clinvar/205906 ^@ NM_172107.3(KCNQ2):c.1505C>T (p.Ala502Val) http://identifiers.org/clinvar/205905 ^@ NM_172107.3(KCNQ2):c.1405G>A (p.Ala469Thr) http://identifiers.org/clinvar/205845 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGTT http://identifiers.org/clinvar/205846 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTTTC http://identifiers.org/clinvar/205839 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insCGTCTGTC http://identifiers.org/clinvar/205840 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insTGCCTGTC http://identifiers.org/clinvar/205841 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCCGTC http://identifiers.org/clinvar/205842 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTCTC http://identifiers.org/clinvar/205844 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC http://identifiers.org/clinvar/205843 ^@ NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGAC http://identifiers.org/clinvar/205838 ^@ NM_172107.3(KCNQ2):c.1302-20_1302-19insTCTGTCTG http://identifiers.org/clinvar/205837 ^@ NM_172107.3(KCNQ2):c.1302-20_1302-19insCCTGTCTG http://identifiers.org/clinvar/205904 ^@ NM_172107.3(KCNQ2):c.1301+5C>T http://identifiers.org/clinvar/205903 ^@ NM_172107.3(KCNQ2):c.1259C>G (p.Pro420Arg) http://identifiers.org/clinvar/205902 ^@ NM_172107.3(KCNQ2):c.1253G>T (p.Gly418Val) http://identifiers.org/clinvar/205901 ^@ NM_172107.3(KCNQ2):c.1198A>G (p.Lys400Glu) http://identifiers.org/clinvar/205900 ^@ NM_172107.3(KCNQ2):c.1172T>C (p.Leu391Pro) http://identifiers.org/clinvar/205836 ^@ NM_172107.3(KCNQ2):c.1161G>A (p.Pro387=) http://identifiers.org/clinvar/205929 ^@ NM_172107.3(KCNQ2):c.1160delC (p.Pro387Argfs) http://identifiers.org/clinvar/205835 ^@ NM_172107.3(KCNQ2):c.1149-20C>T http://identifiers.org/clinvar/205834 ^@ NM_172107.3(KCNQ2):c.1118+53A>G http://identifiers.org/clinvar/205833 ^@ NM_172107.3(KCNQ2):c.1065C>T (p.Asp355=) http://identifiers.org/clinvar/205899 ^@ NM_172107.3(KCNQ2):c.1058G>A (p.Arg353His) http://identifiers.org/clinvar/205898 ^@ NM_172107.3(KCNQ2):c.1057C>T (p.Arg353Cys) http://identifiers.org/clinvar/205897 ^@ NM_172107.3(KCNQ2):c.1049A>T (p.Asn350Ile) http://identifiers.org/clinvar/205832 ^@ NM_172107.3(KCNQ2):c.1024-6C>G http://identifiers.org/clinvar/205896 ^@ NM_172107.3(KCNQ2):c.1020C>G (p.Ile340Met) http://identifiers.org/clinvar/205894 ^@ NM_172107.3(KCNQ2):c.1010C>G (p.Ala337Gly) http://identifiers.org/clinvar/205893 ^@ NM_172107.3(KCNQ2):c.1009G>A (p.Ala337Thr) http://identifiers.org/clinvar/205892 ^@ NM_172107.3(KCNQ2):c.1004C>T (p.Pro335Leu) http://identifiers.org/clinvar/205891 ^@ NM_172107.3(KCNQ2):c.995G>A (p.Arg332Lys) http://identifiers.org/clinvar/205890 ^@ NM_172107.3(KCNQ2):c.937G>T (p.Gly313Trp) http://identifiers.org/clinvar/205888 ^@ NM_172107.3(KCNQ2):c.916G>C (p.Ala306Pro) http://identifiers.org/clinvar/205887 ^@ NM_172107.3(KCNQ2):c.915C>A (p.Phe305Leu) http://identifiers.org/clinvar/205886 ^@ NM_172107.3(KCNQ2):c.881C>T (p.Ala294Val) http://identifiers.org/clinvar/205941 ^@ NM_172107.3(KCNQ2):c.875_876delTCinsCCT (p.Leu292Profs) http://identifiers.org/clinvar/205885 ^@ NM_172107.3(KCNQ2):c.848A>G (p.Lys283Arg) http://identifiers.org/clinvar/205884 ^@ NM_172107.3(KCNQ2):c.844G>A (p.Asp282Asn) http://identifiers.org/clinvar/205883 ^@ NM_172107.3(KCNQ2):c.818T>A (p.Ile273Asn) http://identifiers.org/clinvar/205882 ^@ NM_172107.3(KCNQ2):c.809G>A (p.Trp270Ter) http://identifiers.org/clinvar/205881 ^@ NM_172107.3(KCNQ2):c.806G>T (p.Trp269Leu) http://identifiers.org/clinvar/205831 ^@ NM_172107.3(KCNQ2):c.804C>T (p.Leu268=) http://identifiers.org/clinvar/205880 ^@ NM_172107.3(KCNQ2):c.790T>A (p.Tyr264Asn) http://identifiers.org/clinvar/205879 ^@ NM_172107.3(KCNQ2):c.782T>C (p.Phe261Ser) http://identifiers.org/clinvar/205878 ^@ NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu) http://identifiers.org/clinvar/205877 ^@ NM_172107.3(KCNQ2):c.716G>T (p.Gly239Val) http://identifiers.org/clinvar/205876 ^@ NM_172107.3(KCNQ2):c.692A>G (p.Glu231Gly) http://identifiers.org/clinvar/205816 ^@ NM_172107.3(KCNQ2):c.691-13G>A http://identifiers.org/clinvar/205874 ^@ NM_172107.3(KCNQ2):c.636C>A (p.Asp212Glu) http://identifiers.org/clinvar/205873 ^@ NM_172107.3(KCNQ2):c.628C>T (p.Arg210Cys) http://identifiers.org/clinvar/205872 ^@ NM_172107.3(KCNQ2):c.612G>T (p.Gln204His) http://identifiers.org/clinvar/205871 ^@ NM_172107.3(KCNQ2):c.612G>C (p.Gln204His) http://identifiers.org/clinvar/205870 ^@ NM_172107.3(KCNQ2):c.611A>G (p.Gln204Arg) http://identifiers.org/clinvar/205869 ^@ NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) http://identifiers.org/clinvar/205868 ^@ NM_172107.3(KCNQ2):c.599T>C (p.Leu200Pro) http://identifiers.org/clinvar/205867 ^@ NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/205866 ^@ NM_172107.3(KCNQ2):c.583T>C (p.Ser195Pro) http://identifiers.org/clinvar/205865 ^@ NM_172107.3(KCNQ2):c.578C>A (p.Ala193Asp) http://identifiers.org/clinvar/205864 ^@ NM_172107.3(KCNQ2):c.431G>A (p.Arg144Gln) http://identifiers.org/clinvar/205863 ^@ NM_172107.3(KCNQ2):c.380A>G (p.Tyr127Cys) http://identifiers.org/clinvar/205862 ^@ NM_172107.3(KCNQ2):c.338C>T (p.Ser113Phe) http://identifiers.org/clinvar/205940 ^@ NM_172107.3(KCNQ2):c.333_334delGT (p.Ser113Hisfs) http://identifiers.org/clinvar/205861 ^@ NM_172107.3(KCNQ2):c.297-2A>G http://identifiers.org/clinvar/205860 ^@ NM_172107.3(KCNQ2):c.294C>G (p.Tyr98Ter) http://identifiers.org/clinvar/205859 ^@ NM_172107.3(KCNQ2):c.222C>G (p.Tyr74Ter) http://identifiers.org/clinvar/205858 ^@ NM_172107.3(KCNQ2):c.190G>T (p.Ala64Ser) http://identifiers.org/clinvar/205857 ^@ NM_172107.3(KCNQ2):c.185C>T (p.Ala62Val) http://identifiers.org/clinvar/205939 ^@ NM_172107.3(KCNQ2):c.128C>T (p.Ala43Val) http://identifiers.org/clinvar/205856 ^@ NM_172107.3(KCNQ2):c.-15C>A http://identifiers.org/clinvar/205855 ^@ NM_172107.3(KCNQ2):c.-32A>G http://identifiers.org/clinvar/205854 ^@ NM_172107.3(KCNQ2):c.-46C>G http://identifiers.org/clinvar/205369 ^@ NM_025219.2(DNAJC5):c.31A>G (p.Thr11Ala) http://identifiers.org/clinvar/205364 ^@ NM_025219.2(DNAJC5):c.45A>G (p.Ser15=) http://identifiers.org/clinvar/205370 ^@ NM_025219.2(DNAJC5):c.58C>T (p.Leu20Phe) http://identifiers.org/clinvar/205365 ^@ NM_025219.2(DNAJC5):c.107+10C>T http://identifiers.org/clinvar/205371 ^@ NM_025219.2(DNAJC5):c.107+12A>G http://identifiers.org/clinvar/205372 ^@ NM_025219.2(DNAJC5):c.108-6T>G http://identifiers.org/clinvar/205377 ^@ NM_025219.2(DNAJC5):c.108-3C>T http://identifiers.org/clinvar/205366 ^@ NM_025219.2(DNAJC5):c.132C>T (p.Pro44=) http://identifiers.org/clinvar/205367 ^@ NM_025219.2(DNAJC5):c.153G>T (p.Pro51=) http://identifiers.org/clinvar/205373 ^@ NM_025219.2(DNAJC5):c.187G>A (p.Ala63Thr) http://identifiers.org/clinvar/205374 ^@ NM_025219.2(DNAJC5):c.419C>T (p.Ala140Val) http://identifiers.org/clinvar/205375 ^@ NM_025219.2(DNAJC5):c.448G>C (p.Val150Leu) http://identifiers.org/clinvar/205368 ^@ NM_025219.2(DNAJC5):c.456C>T (p.Pro152=) http://identifiers.org/clinvar/205376 ^@ NM_025219.2(DNAJC5):c.491G>A (p.Arg164Lys) http://identifiers.org/clinvar/205329 ^@ NM_000100.3(CSTB):c.274C>T (p.His92Tyr) http://identifiers.org/clinvar/205328 ^@ NM_000100.3(CSTB):c.214T>C (p.Ser72Pro) http://identifiers.org/clinvar/205323 ^@ NM_000100.3(CSTB):c.193G>A (p.Val65Ile) http://identifiers.org/clinvar/205330 ^@ NM_000100.3(CSTB):c.169G>A (p.Val57Met) http://identifiers.org/clinvar/205327 ^@ NM_000100.3(CSTB):c.155A>T (p.Asn52Ile) http://identifiers.org/clinvar/205326 ^@ NM_000100.3(CSTB):c.146C>T (p.Ala49Val) http://identifiers.org/clinvar/205325 ^@ NM_000100.3(CSTB):c.54C>T (p.His18=) http://identifiers.org/clinvar/205324 ^@ NM_000100.3(CSTB):c.-13C>G http://identifiers.org/clinvar/204817 ^@ NM_000026.3(ADSL):c.-35G>A http://identifiers.org/clinvar/204818 ^@ NM_000026.3(ADSL):c.-22C>T http://identifiers.org/clinvar/204808 ^@ NM_000026.3(ADSL):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/204809 ^@ NM_000026.3(ADSL):c.40C>T (p.Arg14Cys) http://identifiers.org/clinvar/204810 ^@ NM_000026.3(ADSL):c.113C>G (p.Thr38Arg) http://identifiers.org/clinvar/204805 ^@ NM_000026.3(ADSL):c.197A>T (p.Lys66Ile) http://identifiers.org/clinvar/204806 ^@ NM_000026.3(ADSL):c.263T>C (p.Val88Ala) http://identifiers.org/clinvar/204807 ^@ NM_000026.3(ADSL):c.340T>C (p.Tyr114His) http://identifiers.org/clinvar/204811 ^@ NM_000026.3(ADSL):c.377A>G (p.Asn126Ser) http://identifiers.org/clinvar/204815 ^@ NM_000026.3(ADSL):c.421C>T (p.Arg141Trp) http://identifiers.org/clinvar/204812 ^@ NM_000026.3(ADSL):c.482A>G (p.Gln161Arg) http://identifiers.org/clinvar/204814 ^@ NM_000026.3(ADSL):c.568C>T (p.Arg190Ter) http://identifiers.org/clinvar/204784 ^@ NM_000026.3(ADSL):c.616G>T (p.Ala206Ser) http://identifiers.org/clinvar/204786 ^@ NM_000026.3(ADSL):c.775G>T (p.Gly259Trp) http://identifiers.org/clinvar/204787 ^@ NM_000026.3(ADSL):c.828G>C (p.Lys276Asn) http://identifiers.org/clinvar/204788 ^@ NM_000026.3(ADSL):c.853C>T (p.Gln285Ter) http://identifiers.org/clinvar/204790 ^@ NM_000026.3(ADSL):c.880T>C (p.Tyr294His) http://identifiers.org/clinvar/204791 ^@ NM_000026.3(ADSL):c.925C>T (p.Arg309Cys) http://identifiers.org/clinvar/204792 ^@ NM_000026.3(ADSL):c.953C>T (p.Pro318Leu) http://identifiers.org/clinvar/204789 ^@ NM_000026.3(ADSL):c.1009C>T (p.Arg337Ter) http://identifiers.org/clinvar/204793 ^@ NM_000026.3(ADSL):c.1061C>T (p.Thr354Met) http://identifiers.org/clinvar/204794 ^@ NM_000026.3(ADSL):c.1115G>A (p.Arg372His) http://identifiers.org/clinvar/204795 ^@ NM_000026.3(ADSL):c.1128G>C (p.Glu376Asp) http://identifiers.org/clinvar/204796 ^@ NM_000026.3(ADSL):c.1187G>A (p.Arg396His) http://identifiers.org/clinvar/204797 ^@ NM_000026.3(ADSL):c.1262A>G (p.Asn421Ser) http://identifiers.org/clinvar/204798 ^@ NM_000026.3(ADSL):c.1276C>T (p.Arg426Cys) http://identifiers.org/clinvar/204800 ^@ NM_000026.3(ADSL):c.1291G>A (p.Ala431Thr) http://identifiers.org/clinvar/204801 ^@ NM_000026.3(ADSL):c.1339T>C (p.Ser447Pro) http://identifiers.org/clinvar/204813 ^@ NM_000026.3(ADSL):c.1343_1345delCTT (p.Ser448del) http://identifiers.org/clinvar/204816 ^@ NM_000026.3(ADSL):c.1349C>G (p.Thr450Ser) http://identifiers.org/clinvar/204802 ^@ NM_000026.3(ADSL):c.1391A>T (p.Glu464Val) http://identifiers.org/clinvar/204803 ^@ NM_000026.3(ADSL):c.1439C>G (p.Ala480Gly) http://identifiers.org/clinvar/204804 ^@ NM_000026.3(ADSL):c.1447T>C (p.Cys483Arg) http://identifiers.org/clinvar/206288 ^@ NM_001184880.1(PCDH19):c.3439G>A (p.Val1147Ile) http://identifiers.org/clinvar/206287 ^@ NM_001184880.1(PCDH19):c.3415G>A (p.Gly1139Ser) http://identifiers.org/clinvar/206308 ^@ NM_001184880.1(PCDH19):c.3353G>A (p.Ser1118Asn) http://identifiers.org/clinvar/206306 ^@ NM_001184880.1(PCDH19):c.3262G>A (p.Ala1088Thr) http://identifiers.org/clinvar/206286 ^@ NM_001184880.1(PCDH19):c.3235C>A (p.Pro1079Thr) http://identifiers.org/clinvar/206285 ^@ NM_001184880.1(PCDH19):c.3127A>T (p.Ile1043Phe) http://identifiers.org/clinvar/206305 ^@ NM_001184880.1(PCDH19):c.3095C>T (p.Thr1032Ile) http://identifiers.org/clinvar/206304 ^@ NM_001184880.1(PCDH19):c.3079G>A (p.Ala1027Thr) http://identifiers.org/clinvar/206284 ^@ NM_001184880.1(PCDH19):c.3037C>T (p.Arg1013Trp) http://identifiers.org/clinvar/206283 ^@ NM_001184880.1(PCDH19):c.2939G>A (p.Arg980His) http://identifiers.org/clinvar/206362 ^@ NM_001184880.1(PCDH19):c.2873G>A (p.Arg958Gln) http://identifiers.org/clinvar/206344 ^@ NM_001184880.1(PCDH19):c.2687T>C (p.Phe896Ser) http://identifiers.org/clinvar/206343 ^@ NM_001184880.1(PCDH19):c.2668A>G (p.Ile890Val) http://identifiers.org/clinvar/206341 ^@ NM_001184880.1(PCDH19):c.2656C>T (p.Arg886Ter) http://identifiers.org/clinvar/206303 ^@ NM_001184880.1(PCDH19):c.2588T>G (p.Leu863Arg) http://identifiers.org/clinvar/206347 ^@ NM_001184880.1(PCDH19):c.2564G>A (p.Ser855Asn) http://identifiers.org/clinvar/206302 ^@ NM_001184880.1(PCDH19):c.2522G>A (p.Arg841His) http://identifiers.org/clinvar/206360 ^@ NM_001105243.1(PCDH19):c.2258delA (p.Asn753Thrfs) http://identifiers.org/clinvar/206370 ^@ NM_001105243.1(PCDH19):c.2243delA (p.Glu748Glyfs) http://identifiers.org/clinvar/206345 ^@ NM_001184880.1(PCDH19):c.2319G>T (p.Lys773Asn) http://identifiers.org/clinvar/206342 ^@ NM_001184880.1(PCDH19):c.2289-11C>G http://identifiers.org/clinvar/206301 ^@ NM_001184880.1(PCDH19):c.2024T>G (p.Val675Gly) http://identifiers.org/clinvar/206300 ^@ NM_001184880.1(PCDH19):c.1968T>A (p.Ala656=) http://identifiers.org/clinvar/206359 ^@ NM_001105243.1(PCDH19):c.1958_1959dupCT (p.Ala654Leufs) http://identifiers.org/clinvar/206369 ^@ NM_001105243.1(PCDH19):c.1956_1959delCTCT (p.Ser653Profs) http://identifiers.org/clinvar/206358 ^@ NM_001105243.1(PCDH19):c.1952dupC (p.Leu652Serfs) http://identifiers.org/clinvar/206299 ^@ NM_001184880.1(PCDH19):c.1890C>T (p.Phe630=) http://identifiers.org/clinvar/206298 ^@ NM_001184880.1(PCDH19):c.1877C>T (p.Thr626Ile) http://identifiers.org/clinvar/206340 ^@ NM_001184880.1(PCDH19):c.1873A>G (p.Arg625Gly) http://identifiers.org/clinvar/206338 ^@ NM_001184880.1(PCDH19):c.1855C>T (p.Gln619Ter) http://identifiers.org/clinvar/206339 ^@ NM_001184880.1(PCDH19):c.1820T>C (p.Met607Thr) http://identifiers.org/clinvar/206357 ^@ NM_001105243.1(PCDH19):c.1752_1759delCTACCTGG (p.Tyr585Aspfs) http://identifiers.org/clinvar/206297 ^@ NM_001184880.1(PCDH19):c.1740C>G (p.Asn580Lys) http://identifiers.org/clinvar/206356 ^@ NM_001105243.1(PCDH19):c.1683_1696delGGTCATCACAGCCC (p.Val562Thrfs) http://identifiers.org/clinvar/206337 ^@ NM_001184880.1(PCDH19):c.1682C>G (p.Pro561Arg) http://identifiers.org/clinvar/206335 ^@ NM_001184880.1(PCDH19):c.1625C>G (p.Ser542Ter) http://identifiers.org/clinvar/206334 ^@ NM_001184880.1(PCDH19):c.1618C>T (p.Leu540Phe) http://identifiers.org/clinvar/206333 ^@ NM_001184880.1(PCDH19):c.1382T>C (p.Ile461Thr) http://identifiers.org/clinvar/206352 ^@ NM_001105243.1(PCDH19):c.1376delA (p.Gln459Argfs) http://identifiers.org/clinvar/206332 ^@ NM_001184880.1(PCDH19):c.1351C>T (p.Pro451Ser) http://identifiers.org/clinvar/206331 ^@ NM_001184880.1(PCDH19):c.1335C>A (p.Asp445Glu) http://identifiers.org/clinvar/206296 ^@ NM_001184880.1(PCDH19):c.1330A>G (p.Thr444Ala) http://identifiers.org/clinvar/206366 ^@ NM_001184880.1(PCDH19):c.1321G>C (p.Val441Leu) http://identifiers.org/clinvar/206355 ^@ NM_001105243.1(PCDH19):c.1308delC (p.Lys437Serfs) http://identifiers.org/clinvar/206295 ^@ NM_001184880.1(PCDH19):c.1294A>G (p.Met432Val) http://identifiers.org/clinvar/206330 ^@ NM_001184880.1(PCDH19):c.1241A>T (p.Glu414Val) http://identifiers.org/clinvar/206294 ^@ NM_001184880.1(PCDH19):c.1209C>T (p.Ser403=) http://identifiers.org/clinvar/206328 ^@ NM_001184880.1(PCDH19):c.1164G>T (p.Leu388Phe) http://identifiers.org/clinvar/206354 ^@ NM_001105243.1(PCDH19):c.1134delA (p.Gly379Alafs) http://identifiers.org/clinvar/206327 ^@ NM_001184880.1(PCDH19):c.1114C>T (p.Arg372Trp) http://identifiers.org/clinvar/206353 ^@ NM_001184880.1(PCDH19):c.1091dupC (p.Tyr366Leufs) http://identifiers.org/clinvar/206351 ^@ NM_001105243.1(PCDH19):c.1059_1062delTGAG (p.Glu354Leufs) http://identifiers.org/clinvar/206326 ^@ NM_001184880.1(PCDH19):c.1031C>T (p.Pro344Leu) http://identifiers.org/clinvar/206364 ^@ NM_001184880.1(PCDH19):c.1019A>G (p.Asn340Ser) http://identifiers.org/clinvar/206325 ^@ NM_001184880.1(PCDH19):c.1004G>A (p.Ser335Asn) http://identifiers.org/clinvar/206368 ^@ NM_001105243.1(PCDH19):c.966dupG (p.Pro323Alafs) http://identifiers.org/clinvar/206350 ^@ NM_001105243.1(PCDH19):c.805delA (p.Thr269Profs) http://identifiers.org/clinvar/206324 ^@ NM_001184880.1(PCDH19):c.750C>G (p.Asn250Lys) http://identifiers.org/clinvar/206323 ^@ NM_001184880.1(PCDH19):c.718G>C (p.Glu240Gln) http://identifiers.org/clinvar/206322 ^@ NM_001184880.1(PCDH19):c.696T>A (p.Asn232Lys) http://identifiers.org/clinvar/206321 ^@ NM_001184880.1(PCDH19):c.695A>G (p.Asn232Ser) http://identifiers.org/clinvar/206320 ^@ NM_001184880.1(PCDH19):c.634G>C (p.Asp212His) http://identifiers.org/clinvar/206319 ^@ NM_001184880.1(PCDH19):c.625A>C (p.Thr209Pro) http://identifiers.org/clinvar/206318 ^@ NM_001184880.1(PCDH19):c.623T>A (p.Ile208Asn) http://identifiers.org/clinvar/206316 ^@ NM_001184880.1(PCDH19):c.619C>T (p.Arg207Ter) http://identifiers.org/clinvar/206317 ^@ NM_001105243.1(PCDH19):c.539C>G (p.Thr180Arg) http://identifiers.org/clinvar/206349 ^@ NM_001105243.1(PCDH19):c.524delG (p.Gly175Alafs) http://identifiers.org/clinvar/206293 ^@ NM_001184880.1(PCDH19):c.513C>T (p.Asn171=) http://identifiers.org/clinvar/206361 ^@ NM_001184880.1(PCDH19):c.498C>G (p.Tyr166Ter) http://identifiers.org/clinvar/206315 ^@ NM_001184880.1(PCDH19):c.473C>G (p.Ser158Ter) http://identifiers.org/clinvar/206314 ^@ NM_001184880.1(PCDH19):c.463G>A (p.Asp155Asn) http://identifiers.org/clinvar/206313 ^@ NM_001184880.1(PCDH19):c.437C>G (p.Thr146Arg) http://identifiers.org/clinvar/206312 ^@ NM_001184880.1(PCDH19):c.424G>C (p.Ala142Pro) http://identifiers.org/clinvar/206311 ^@ NM_001184880.1(PCDH19):c.370G>T (p.Asp124Tyr) http://identifiers.org/clinvar/206310 ^@ NM_001184880.1(PCDH19):c.369C>A (p.Asn123Lys) http://identifiers.org/clinvar/206309 ^@ NM_001184880.1(PCDH19):c.361G>C (p.Asp121His) http://identifiers.org/clinvar/206348 ^@ NM_001184880.1(PCDH19):c.301_303delATC (p.Ile101del) http://identifiers.org/clinvar/206363 ^@ NM_001184880.1(PCDH19):c.298A>T (p.Ile100Phe) http://identifiers.org/clinvar/206292 ^@ NM_001184880.1(PCDH19):c.224A>G (p.Asn75Ser) http://identifiers.org/clinvar/206367 ^@ NM_001105243.1(PCDH19):c.218_219insG (p.Asp73Glufs) http://identifiers.org/clinvar/206365 ^@ NM_001105243.1(PCDH19):c.199_207delTCGGCTCCA (p.Ser67_Pro69del) http://identifiers.org/clinvar/206307 ^@ NM_001184880.1(PCDH19):c.91G>T (p.Glu31Ter) http://identifiers.org/clinvar/206291 ^@ NM_001105243.1(PCDH19):c.34_36delCTG (p.Leu12del) http://identifiers.org/clinvar/206290 ^@ NM_001184880.1(PCDH19):c.-9C>T http://identifiers.org/clinvar/206289 ^@ NM_001184880.1(PCDH19):c.-38G>T http://identifiers.org/clinvar/207385 ^@ NM_014467.2(SRPX2):c.-37A>G http://identifiers.org/clinvar/207398 ^@ NM_014467.2(SRPX2):c.127G>A (p.Glu43Lys) http://identifiers.org/clinvar/207387 ^@ NM_014467.2(SRPX2):c.224A>T (p.Lys75Met) http://identifiers.org/clinvar/207388 ^@ NM_014467.2(SRPX2):c.248T>C (p.Leu83Pro) http://identifiers.org/clinvar/207399 ^@ NM_014467.2(SRPX2):c.256C>T (p.Arg86Cys) http://identifiers.org/clinvar/207389 ^@ NM_014467.2(SRPX2):c.257G>A (p.Arg86His) http://identifiers.org/clinvar/207390 ^@ NM_014467.2(SRPX2):c.277C>T (p.Arg93Trp) http://identifiers.org/clinvar/207371 ^@ NM_014467.2(SRPX2):c.481C>A (p.Arg161=) http://identifiers.org/clinvar/207391 ^@ NM_014467.2(SRPX2):c.533-1G>A http://identifiers.org/clinvar/207382 ^@ NM_014467.2(SRPX2):c.660-16delA http://identifiers.org/clinvar/207392 ^@ NM_014467.2(SRPX2):c.751G>A (p.Ala251Thr) http://identifiers.org/clinvar/207383 ^@ NM_014467.2(SRPX2):c.809C>T (p.Pro270Leu) http://identifiers.org/clinvar/207393 ^@ NM_014467.2(SRPX2):c.893G>A (p.Arg298His) http://identifiers.org/clinvar/207400 ^@ NM_014467.2(SRPX2):c.928C>T (p.Arg310Cys) http://identifiers.org/clinvar/207394 ^@ NM_014467.2(SRPX2):c.943T>C (p.Ser315Pro) http://identifiers.org/clinvar/207395 ^@ NM_014467.2(SRPX2):c.1030C>A (p.Leu344Ile) http://identifiers.org/clinvar/207396 ^@ NM_014467.2(SRPX2):c.1177C>T (p.Arg393Trp) http://identifiers.org/clinvar/207384 ^@ NM_014467.2(SRPX2):c.1199A>G (p.Asn400Ser) http://identifiers.org/clinvar/207397 ^@ NM_014467.2(SRPX2):c.1202T>C (p.Ile401Thr) http://identifiers.org/clinvar/207386 ^@ NM_014467.2(SRPX2):c.1229G>A (p.Arg410His) http://identifiers.org/clinvar/207235 ^@ NM_006359.2(SLC9A6):c.67A>G (p.Arg23Gly) http://identifiers.org/clinvar/207236 ^@ NM_006359.2(SLC9A6):c.76C>G (p.Arg26Gly) http://identifiers.org/clinvar/207250 ^@ NM_006359.2(SLC9A6):c.141_143dupCGG (p.Gly48_Glu49insGly) http://identifiers.org/clinvar/207247 ^@ NM_006359.2(SLC9A6):c.148G>T (p.Ala50Ser) http://identifiers.org/clinvar/207251 ^@ NM_001042537.1(SLC9A6):c.346dupC (p.Leu116Profs) http://identifiers.org/clinvar/207248 ^@ NM_006359.2(SLC9A6):c.430-9_430-5delTTTTA http://identifiers.org/clinvar/207238 ^@ NM_006359.2(SLC9A6):c.508A>G (p.Arg170Gly) http://identifiers.org/clinvar/207233 ^@ NM_006359.2(SLC9A6):c.512A>T (p.His171Leu) http://identifiers.org/clinvar/207239 ^@ NM_006359.2(SLC9A6):c.547G>A (p.Ala183Thr) http://identifiers.org/clinvar/207249 ^@ NM_006359.2(SLC9A6):c.585dupG (p.Ser196Valfs) http://identifiers.org/clinvar/207252 ^@ NM_006359.2(SLC9A6):c.623C>T (p.Thr208Met) http://identifiers.org/clinvar/207255 ^@ NM_006359.2(SLC9A6):c.857_858delCA (p.Thr286Serfs) http://identifiers.org/clinvar/207244 ^@ NM_006359.2(SLC9A6):c.1130G>C (p.Arg377Thr) http://identifiers.org/clinvar/207234 ^@ NM_006359.2(SLC9A6):c.1347A>G (p.Gln449=) http://identifiers.org/clinvar/207253 ^@ NM_006359.2(SLC9A6):c.1558C>A (p.Pro520Thr) http://identifiers.org/clinvar/207241 ^@ NM_006359.2(SLC9A6):c.1631+1G>A http://identifiers.org/clinvar/207246 ^@ NM_006359.2(SLC9A6):c.1721G>A (p.Ser574Asn) http://identifiers.org/clinvar/204913 ^@ NM_005765.2(ATP6AP2):c.-46C>A http://identifiers.org/clinvar/204914 ^@ NM_005765.2(ATP6AP2):c.19C>T (p.Leu7Phe) http://identifiers.org/clinvar/204915 ^@ NM_005765.2(ATP6AP2):c.217C>T (p.Arg73Trp) http://identifiers.org/clinvar/204916 ^@ NM_005765.2(ATP6AP2):c.232G>T (p.Val78Leu) http://identifiers.org/clinvar/204917 ^@ NM_005765.2(ATP6AP2):c.315T>G (p.Ser105Arg) http://identifiers.org/clinvar/204911 ^@ NM_005765.2(ATP6AP2):c.463C>T (p.Arg155Cys) http://identifiers.org/clinvar/204912 ^@ NM_005765.2(ATP6AP2):c.490G>A (p.Val164Ile) http://identifiers.org/clinvar/204918 ^@ NM_005765.2(ATP6AP2):c.596G>A (p.Arg199His) http://identifiers.org/clinvar/204919 ^@ NM_005765.2(ATP6AP2):c.778G>A (p.Val260Met) http://identifiers.org/clinvar/204920 ^@ NM_005765.2(ATP6AP2):c.940A>T (p.Met314Leu) http://identifiers.org/clinvar/207464 ^@ NM_133499.2(SYN1):c.1968G>A (p.Pro656=) http://identifiers.org/clinvar/207477 ^@ NM_133499.2(SYN1):c.1961G>A (p.Gly654Glu) http://identifiers.org/clinvar/207476 ^@ NM_133499.2(SYN1):c.1943C>T (p.Ala648Val) http://identifiers.org/clinvar/207475 ^@ NM_133499.2(SYN1):c.1665G>T (p.Gln555His) http://identifiers.org/clinvar/207474 ^@ NM_133499.2(SYN1):c.1543C>G (p.Pro515Ala) http://identifiers.org/clinvar/207479 ^@ NM_133499.2(SYN1):c.1473_1475delGCA (p.Gln491del) http://identifiers.org/clinvar/207472 ^@ NM_133499.2(SYN1):c.1372C>G (p.Gln458Glu) http://identifiers.org/clinvar/207471 ^@ NM_133499.2(SYN1):c.1345T>A (p.Ser449Thr) http://identifiers.org/clinvar/207470 ^@ NM_133499.2(SYN1):c.1297C>T (p.His433Tyr) http://identifiers.org/clinvar/207469 ^@ NM_133499.2(SYN1):c.1264C>T (p.Arg422Ter) http://identifiers.org/clinvar/207463 ^@ NM_133499.2(SYN1):c.1110C>T (p.Cys370=) http://identifiers.org/clinvar/207468 ^@ NM_133499.2(SYN1):c.1025C>T (p.Ala342Val) http://identifiers.org/clinvar/207467 ^@ NM_133499.2(SYN1):c.844G>A (p.Val282Ile) http://identifiers.org/clinvar/207466 ^@ NM_133499.2(SYN1):c.526C>T (p.Arg176Trp) http://identifiers.org/clinvar/207480 ^@ NM_133499.2(SYN1):c.439G>A (p.Glu147Lys) http://identifiers.org/clinvar/207459 ^@ NM_133499.2(SYN1):c.426A>G (p.Lys142=) http://identifiers.org/clinvar/207478 ^@ NM_133499.2(SYN1):c.364C>T (p.Pro122Ser) http://identifiers.org/clinvar/207465 ^@ NM_133499.2(SYN1):c.189G>T (p.Pro63=) http://identifiers.org/clinvar/207798 ^@ NM_015100.3(POGZ):c.3041delA (p.Gln1014Argfs) http://identifiers.org/clinvar/207797 ^@ NM_015100.3(POGZ):c.2750dupC (p.Pro918Thrfs) http://identifiers.org/clinvar/207796 ^@ NM_015100.3(POGZ):c.2641delA (p.Thr881Leufs) http://identifiers.org/clinvar/207801 ^@ NM_015100.3(POGZ):c.2514dupC (p.Ser839Leufs) http://identifiers.org/clinvar/207800 ^@ NM_015100.3(POGZ):c.2195_2196delCT (p.Pro732Argfs) http://identifiers.org/clinvar/207799 ^@ NM_015100.3(POGZ):c.2094_2097dupAACT (p.Val700Asnfs) http://identifiers.org/clinvar/207823 ^@ NM_152641.3(ARID2):c.2536delG (p.Val846Leufs) http://identifiers.org/clinvar/207813 ^@ NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) http://identifiers.org/clinvar/207809 ^@ NM_001193416.2(DDX3X):c.1321delG (p.Asp441Ilefs) http://identifiers.org/clinvar/207817 ^@ NM_001193416.2(DDX3X):c.1463G>A (p.Arg488His) http://identifiers.org/clinvar/207812 ^@ NM_001193416.2(DDX3X):c.1535_1536delAT (p.His512Argfs) http://identifiers.org/clinvar/207808 ^@ NM_001193416.2(DDX3X):c.1541T>C (p.Ile514Thr) http://identifiers.org/clinvar/207828 ^@ NM_145207.2(SPATA5):c.989_991delCAA (p.Thr330del) http://identifiers.org/clinvar/207827 ^@ NM_145207.2(SPATA5):c.1677C>A (p.Tyr559Ter) http://identifiers.org/clinvar/207926 ^@ NM_001010985.2(MYBPHL):c.475G>A (p.Gly159Ser) http://identifiers.org/clinvar/207864 ^@ NM_001010898.3(SLC6A17):c.2021G>A (p.Arg674His) http://identifiers.org/clinvar/207948 ^@ NM_014697.2(NOS1AP):c.824C>T (p.Ser275Phe) http://identifiers.org/clinvar/207947 ^@ NM_014697.2(NOS1AP):c.1276G>A (p.Val426Met) http://identifiers.org/clinvar/207842 ^@ NM_020765.2(UBR4):c.6397G>A (p.Ala2133Thr) http://identifiers.org/clinvar/207957 ^@ NM_020765.2(UBR4):c.1557G>C (p.Gln519His) http://identifiers.org/clinvar/207956 ^@ NM_020765.2(UBR4):c.1349G>T (p.Arg450Leu) http://identifiers.org/clinvar/207955 ^@ NM_020765.2(UBR4):c.1097A>G (p.Lys366Arg) http://identifiers.org/clinvar/207916 ^@ NM_205860.2(NR5A2):c.1052A>T (p.Gln351Leu) http://identifiers.org/clinvar/207846 ^@ NM_017596.3(KIF21B):c.3601C>T (p.Arg1201Trp) http://identifiers.org/clinvar/207960 ^@ NM_017596.3(KIF21B):c.2224G>A (p.Glu742Lys) http://identifiers.org/clinvar/207845 ^@ NM_018040.4(GPATCH2):c.1526delG (p.Gly509Aspfs) http://identifiers.org/clinvar/207831 ^@ NM_025160.6(WDR26):c.612G>T (p.Leu204Phe) http://identifiers.org/clinvar/207962 ^@ NM_001115113.2(WDR26):c.59G>A (p.Gly20Glu) http://identifiers.org/clinvar/207949 ^@ NM_001035.2(RYR2):c.497C>G (p.Ser166Cys) http://identifiers.org/clinvar/207950 ^@ NM_001035.2(RYR2):c.5278C>T (p.Arg1760Trp) http://identifiers.org/clinvar/207951 ^@ NM_001035.2(RYR2):c.8470C>T (p.Arg2824Trp) http://identifiers.org/clinvar/207952 ^@ NM_001035.2(RYR2):c.11017C>T (p.Arg3673Trp) http://identifiers.org/clinvar/207953 ^@ NM_001035.2(RYR2):c.12438G>C (p.Glu4146Asp) http://identifiers.org/clinvar/207954 ^@ NM_001035.2(RYR2):c.13780A>C (p.Lys4594Gln) http://identifiers.org/clinvar/207859 ^@ NM_003039.2(SLC2A5):c.808C>T (p.Arg270Trp) http://identifiers.org/clinvar/207920 ^@ NM_004257.5(TGFBRAP1):c.642G>C (p.Lys214Asn) http://identifiers.org/clinvar/207908 ^@ NM_173651.3(FSIP2):c.3943G>A (p.Glu1315Lys) http://identifiers.org/clinvar/207901 ^@ NM_001006946.1(SDC1):c.188C>T (p.Ser63Phe) http://identifiers.org/clinvar/207838 ^@ NM_138964.3(PROKR1):c.689A>C (p.Lys230Thr) http://identifiers.org/clinvar/207934 ^@ NM_017699.2(SIDT1):c.2194A>G (p.Lys732Glu) http://identifiers.org/clinvar/207923 ^@ NM_001199161.1(USP19):c.1134G>T (p.Glu378Asp) http://identifiers.org/clinvar/207882 ^@ NM_033337.2(CAV3):c.37A>T (p.Ile13Phe) http://identifiers.org/clinvar/207910 ^@ NM_001174150.1(ARL13B):c.379G>T (p.Val127Leu) http://identifiers.org/clinvar/207942 ^@ NM_001148.4(ANK2):c.4876A>G (p.Lys1626Glu) http://identifiers.org/clinvar/207943 ^@ NM_001148.4(ANK2):c.6149T>C (p.Ile2050Thr) http://identifiers.org/clinvar/207944 ^@ NM_001148.4(ANK2):c.8123T>C (p.Val2708Ala) http://identifiers.org/clinvar/207852 ^@ NM_003619.3(PRSS12):c.1516G>A (p.Glu506Lys) http://identifiers.org/clinvar/207863 ^@ NM_002006.4(FGF2):c.326G>A (p.Gly109Asp) http://identifiers.org/clinvar/207854 ^@ NM_153702.3(ELMOD2):c.674A>G (p.Lys225Arg) http://identifiers.org/clinvar/207860 ^@ NM_006726.4(LRBA):c.6157G>A (p.Glu2053Lys) http://identifiers.org/clinvar/207935 ^@ NM_024949.5(WWC2):c.3260T>C (p.Leu1087Pro) http://identifiers.org/clinvar/207915 ^@ NM_021927.2(GUF1):c.655G>T (p.Asp219Tyr) http://identifiers.org/clinvar/207871 ^@ NM_018401.2(STK32B):c.487A>G (p.Thr163Ala) http://identifiers.org/clinvar/207855 ^@ NM_002115.2(HK3):c.2035G>A (p.Glu679Lys) http://identifiers.org/clinvar/207895 ^@ NM_001164443.1(ANKRD31):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/207936 ^@ NM_016442.4(ERAP1):c.955A>G (p.Met319Val) http://identifiers.org/clinvar/207879 ^@ NM_001012418.4(MYLK4):c.451G>A (p.Glu151Lys) http://identifiers.org/clinvar/207913 ^@ NM_001025091.1(ABCF1):c.2275C>T (p.Arg759Trp) http://identifiers.org/clinvar/207872 ^@ NM_001010870.2(TDRD6):c.4720T>G (p.Cys1574Gly) http://identifiers.org/clinvar/207937 ^@ NM_014989.5(RIMS1):c.1477G>C (p.Glu493Gln) http://identifiers.org/clinvar/207856 ^@ NM_014611.2(MDN1):c.9722T>C (p.Phe3241Ser) http://identifiers.org/clinvar/207896 ^@ NM_002649.3(PIK3CG):c.574G>A (p.Asp192Asn) http://identifiers.org/clinvar/207881 ^@ NM_014390.3(SND1):c.1871A>C (p.Glu624Ala) http://identifiers.org/clinvar/207924 ^@ NM_001099220.2(ZNF862):c.637T>G (p.Trp213Gly) http://identifiers.org/clinvar/207940 ^@ NM_000238.3(KCNH2):c.1849T>C (p.Phe617Leu) http://identifiers.org/clinvar/207941 ^@ NM_000238.3(KCNH2):c.307+2T>A http://identifiers.org/clinvar/207939 ^@ NM_003364.3(UPP1):c.280C>T (p.Arg94Cys) http://identifiers.org/clinvar/207945 ^@ NM_147185.2(AKAP9):c.2295T>A (p.Asp765Glu) http://identifiers.org/clinvar/207946 ^@ NM_147185.2(AKAP9):c.5341T>A (p.Ser1781Thr) http://identifiers.org/clinvar/242570 ^@ NM_015902.5(UBR5):c.5837A>G (p.His1946Arg) http://identifiers.org/clinvar/242569 ^@ NM_015902.5(UBR5):c.3752G>A (p.Arg1251His) http://identifiers.org/clinvar/207958 ^@ NM_015902.5(UBR5):c.2965C>T (p.Arg989Trp) http://identifiers.org/clinvar/207907 ^@ NM_002514.3(NOV):c.605C>G (p.Ser202Ter) http://identifiers.org/clinvar/207857 ^@ NM_017864.3(INTS8):c.484A>C (p.Lys162Gln) http://identifiers.org/clinvar/207897 ^@ NM_003086.3(SNAPC4):c.3935G>A (p.Arg1312Gln) http://identifiers.org/clinvar/207858 ^@ NM_001135052.3(SYK):c.154G>T (p.Ala52Ser) http://identifiers.org/clinvar/207917 ^@ NM_002417.4(MKI67):c.7106T>C (p.Val2369Ala) http://identifiers.org/clinvar/207832 ^@ NM_014263.3(YME1L1):c.859G>A (p.Val287Met) http://identifiers.org/clinvar/207877 ^@ NM_021226.3(ARHGAP22):c.14A>C (p.Lys5Thr) http://identifiers.org/clinvar/207847 ^@ NM_001047160.2(NET1):c.583C>T (p.Leu195Phe) http://identifiers.org/clinvar/207927 ^@ NM_001080449.2(DNA2):c.811G>A (p.Gly271Arg) http://identifiers.org/clinvar/207898 ^@ NM_025130.3(HKDC1):c.1001T>A (p.Ile334Asn) http://identifiers.org/clinvar/207836 ^@ NM_004523.3(KIF11):c.205G>A (p.Asp69Asn) http://identifiers.org/clinvar/207834 ^@ NM_015631.5(TCTN3):c.152C>A (p.Ser51Ter) http://identifiers.org/clinvar/207861 ^@ NM_024618.3(NLRX1):c.2252G>A (p.Arg751His) http://identifiers.org/clinvar/207876 ^@ NM_000218.2(KCNQ1):c.683+2T>G http://identifiers.org/clinvar/207833 ^@ NM_015459.4(ATL3):c.955C>T (p.Arg319Trp) http://identifiers.org/clinvar/207865 ^@ NM_001206999.1(CIT):c.5786C>A (p.Ser1929Tyr) http://identifiers.org/clinvar/207961 ^@ NM_001206999.1(CIT):c.5783C>T (p.Ala1928Val) http://identifiers.org/clinvar/207843 ^@ NM_013381.2(TRHDE):c.2047A>T (p.Ile683Phe) http://identifiers.org/clinvar/242568 ^@ NM_002864.2(PZP):c.3325G>A (p.Ala1109Thr) http://identifiers.org/clinvar/242567 ^@ NM_002864.2(PZP):c.1504G>A (p.Val502Ile) http://identifiers.org/clinvar/242566 ^@ NM_001146197.1(CCDC168):c.9652A>G (p.Met3218Val) http://identifiers.org/clinvar/242565 ^@ NM_001146197.1(CCDC168):c.3838G>A (p.Glu1280Lys) http://identifiers.org/clinvar/207867 ^@ NM_001161476.1(WDR25):c.840C>A (p.Asp280Glu) http://identifiers.org/clinvar/207899 ^@ NM_014990.2(RALGAPA1):c.5996G>C (p.Arg1999Pro) http://identifiers.org/clinvar/207868 ^@ NM_175748.3(UBR7):c.293G>A (p.Arg98His) http://identifiers.org/clinvar/207880 ^@ NM_006049.3(SNAPC5):c.223A>G (p.Thr75Ala) http://identifiers.org/clinvar/207869 ^@ NM_025240.2(CD276):c.338G>A (p.Arg113His) http://identifiers.org/clinvar/207884 ^@ NM_022566.2(MESDC1):c.845A>G (p.Lys282Arg) http://identifiers.org/clinvar/207918 ^@ NM_001199097.1(BAIAP3):c.2563G>C (p.Ala855Pro) http://identifiers.org/clinvar/207844 ^@ NM_003450.2(ZNF174):c.1204C>T (p.Arg402Ter) http://identifiers.org/clinvar/207886 ^@ NM_001907.2(CTRL):c.217G>A (p.Ala73Thr) http://identifiers.org/clinvar/207928 ^@ NM_052892.3(PKD1L2):c.1089C>A (p.Cys363Ter) http://identifiers.org/clinvar/207835 ^@ NM_001067.3(TOP2A):c.263T>C (p.Ile88Thr) http://identifiers.org/clinvar/207849 ^@ NM_005858.3(AKAP8):c.787G>C (p.Gly263Arg) http://identifiers.org/clinvar/207888 ^@ NM_016539.3(SIRT6):c.742C>T (p.Arg248Cys) http://identifiers.org/clinvar/207930 ^@ NM_017432.4(PTOV1):c.635A>T (p.Lys212Met) http://identifiers.org/clinvar/207900 ^@ NM_176810.2(NLRP13):c.190G>A (p.Asp64Asn) http://identifiers.org/clinvar/207890 ^@ NM_005035.3(POLRMT):c.2698G>A (p.Glu900Lys) http://identifiers.org/clinvar/207874 ^@ NM_214710.4(PRSS57):c.92G>T (p.Gly31Val) http://identifiers.org/clinvar/207892 ^@ NM_025061.5(LRRC8E):c.1777G>A (p.Gly593Arg) http://identifiers.org/clinvar/207931 ^@ NM_031203.3(HNRNPM):c.76G>A (p.Gly26Ser) http://identifiers.org/clinvar/207909 ^@ NM_014588.5(VSX1):c.310G>C (p.Ala104Pro) http://identifiers.org/clinvar/207903 ^@ NM_014012.5(REM1):c.577G>A (p.Val193Met) http://identifiers.org/clinvar/207894 ^@ NM_032819.4(ZNF341):c.2143C>T (p.Arg715Cys) http://identifiers.org/clinvar/207870 ^@ NM_003823.3(TNFRSF6B):c.649G>A (p.Asp217Asn) http://identifiers.org/clinvar/207904 ^@ NM_001172646.1(PLCB4):c.448C>T (p.His150Tyr) http://identifiers.org/clinvar/207911 ^@ NM_003489.3(NRIP1):c.640A>G (p.Arg214Gly) http://identifiers.org/clinvar/207922 ^@ NM_206889.2(DIP2A):c.2654G>A (p.Arg885Gln) http://identifiers.org/clinvar/207851 ^@ NM_001670.2(ARVCF):c.1792G>A (p.Gly598Arg) http://identifiers.org/clinvar/207959 ^@ NM_058004.3(PI4KA):c.912C>G (p.Ile304Met) http://identifiers.org/clinvar/207932 ^@ NM_058004.3(PI4KA):c.421G>A (p.Asp141Asn) http://identifiers.org/clinvar/207933 ^@ NM_018006.4(TRMU):c.1007A>C (p.Gln336Pro) http://identifiers.org/clinvar/207905 ^@ NM_014246.1(CELSR1):c.3406G>A (p.Asp1136Asn) http://identifiers.org/clinvar/207875 ^@ NM_033517.1(SHANK3):c.2143G>A (p.Asp715Asn) http://identifiers.org/clinvar/207963 ^@ NM_000070.2(CAPN3):c.795_800delCATTGA (p.Ile266_Asp267del) http://identifiers.org/clinvar/207974 ^@ NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) http://identifiers.org/clinvar/207969 ^@ NM_000218.2(KCNQ1):c.443delA (p.Tyr148Leufs) http://identifiers.org/clinvar/207967 ^@ NM_000218.2(KCNQ1):c.557G>A (p.Gly186Asp) http://identifiers.org/clinvar/207971 ^@ NM_000218.2(KCNQ1):c.758C>G (p.Ser253Cys) http://identifiers.org/clinvar/207968 ^@ NM_000218.2(KCNQ1):c.1051T>C (p.Phe351Leu) http://identifiers.org/clinvar/207972 ^@ NM_000218.2(KCNQ1):c.1480dupG (p.Glu494Glyfs) http://identifiers.org/clinvar/207973 ^@ NM_000218.2(KCNQ1):c.1686-2A>G http://identifiers.org/clinvar/207970 ^@ NM_000218.2(KCNQ1):c.1733-1G>C http://identifiers.org/clinvar/207977 ^@ NM_022167.3(XYLT2):c.692dupC (p.Val232Glyfs) http://identifiers.org/clinvar/207978 ^@ NM_022167.3(XYLT2):c.520delG (p.Ala174Profs) http://identifiers.org/clinvar/207986 ^@ NM_052859.3(RFT1):c.454A>G (p.Lys152Glu) http://identifiers.org/clinvar/207987 ^@ NM_052859.3(RFT1):c.892G>A (p.Glu298Lys) http://identifiers.org/clinvar/207988 ^@ NM_052859.3(RFT1):c.887T>A (p.Ile296Lys) http://identifiers.org/clinvar/207989 ^@ NM_052859.3(RFT1):c.887T>G (p.Ile296Arg) http://identifiers.org/clinvar/207990 ^@ NM_052859.3(RFT1):c.1222A>G (p.Met408Val) http://identifiers.org/clinvar/207991 ^@ NM_052859.3(RFT1):c.1325G>A (p.Arg442Gln) http://identifiers.org/clinvar/208009 ^@ NG_008638.1:g.(16327)_24584del http://identifiers.org/clinvar/208017 ^@ NC_000023.11:g.(?_126549383)_(129592556_?)del http://identifiers.org/clinvar/208015 ^@ NM_000276.3(OCRL):c.-165-?_199+?del http://identifiers.org/clinvar/208016 ^@ NM_000276.3(OCRL):c.-165-?_238+?del http://identifiers.org/clinvar/208011 ^@ NM_000276.3(OCRL):c.-165-?_*2286+?del http://identifiers.org/clinvar/208001 ^@ NG_007159.3:g.(?_162979)_(164232_?)del http://identifiers.org/clinvar/208010 ^@ NG_008638.1:g.23614_27859del4246 http://identifiers.org/clinvar/207994 ^@ NM_000084.4(CLCN5):c.100C>T (p.Arg34Ter) http://identifiers.org/clinvar/207995 ^@ NM_000084.4(CLCN5):c.836G>A (p.Trp279Ter) http://identifiers.org/clinvar/207996 ^@ NM_000084.4(CLCN5):c.1039C>T (p.Arg347Ter) http://identifiers.org/clinvar/207997 ^@ NM_000084.4(CLCN5):c.1399C>T (p.Arg467Ter) http://identifiers.org/clinvar/207998 ^@ NM_000084.4(CLCN5):c.1546C>T (p.Arg516Trp) http://identifiers.org/clinvar/207999 ^@ NM_000084.4(CLCN5):c.1909C>T (p.Arg637Ter) http://identifiers.org/clinvar/208000 ^@ NM_000084.4(CLCN5):c.2152C>T (p.Arg718Ter) http://identifiers.org/clinvar/208002 ^@ NM_001127899.3(CLCN5):c.2393_2415del23 (p.Val798Glyfs) http://identifiers.org/clinvar/208003 ^@ NC_000023.11:g.(?_49922616)_(50099235_?)del http://identifiers.org/clinvar/208004 ^@ NC_000023.11:g.(?_49922616)_(50099235_?)del http://identifiers.org/clinvar/208005 ^@ NC_000023.11:g.(?_49922616)_(50099235_?)del http://identifiers.org/clinvar/208012 ^@ NM_000276.3:c.2140_*2286del http://identifiers.org/clinvar/208013 ^@ NM_000276.3:c.120_238del http://identifiers.org/clinvar/208019 ^@ NM_194248.2(OTOF):c.4467dupC (p.Ile1490Hisfs) http://identifiers.org/clinvar/208026 ^@ NM_020533.2(MCOLN1):c.163_197del35insTCA (p.Lys55Serfs) http://identifiers.org/clinvar/208042 ^@ NM_020533.2(MCOLN1):c.235C>T (p.Gln79Ter) http://identifiers.org/clinvar/208037 ^@ NM_020533.2(MCOLN1):c.236_237insNC_012920.1:m.12435_12527 (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer) http://identifiers.org/clinvar/208038 ^@ NM_020533.2(MCOLN1):c.302_303delTC (p.Phe101Serfs) http://identifiers.org/clinvar/208031 ^@ NM_020533.2(MCOLN1):c.317T>C (p.Leu106Pro) http://identifiers.org/clinvar/208027 ^@ NM_020533.2(MCOLN1):c.473_474delCC (p.Thr158Lysfs) http://identifiers.org/clinvar/208032 ^@ NM_020533.2(MCOLN1):c.497G>T (p.Cys166Phe) http://identifiers.org/clinvar/208030 ^@ NM_020533.2(MCOLN1):c.514C>T (p.Arg172Ter) http://identifiers.org/clinvar/208021 ^@ NM_020533.2(MCOLN1):c.694A>C (p.Thr232Pro) http://identifiers.org/clinvar/208039 ^@ NM_020533.2(MCOLN1):c.920delT (p.Leu307Profs) http://identifiers.org/clinvar/208028 ^@ NM_020533.2(MCOLN1):c.1210dupT (p.Tyr404Leufs) http://identifiers.org/clinvar/208022 ^@ NM_020533.2(MCOLN1):c.1221_1223delCTT (p.Phe408del) http://identifiers.org/clinvar/208033 ^@ NM_020533.2(MCOLN1):c.1336G>T (p.Val446Leu) http://identifiers.org/clinvar/208034 ^@ NM_020533.2(MCOLN1):c.1340T>C (p.Leu447Pro) http://identifiers.org/clinvar/208036 ^@ NM_020533.2(MCOLN1):c.1388G>A (p.Cys463Tyr) http://identifiers.org/clinvar/208035 ^@ NM_020533.2(MCOLN1):c.1395C>G (p.Phe465Leu) http://identifiers.org/clinvar/208023 ^@ NM_020533.2(MCOLN1):c.1406A>G (p.Asn469Ser) http://identifiers.org/clinvar/208029 ^@ NM_020533.2(MCOLN1):c.1453_1463dupGGCCGCAGCAG (p.Ser488Argfs) http://identifiers.org/clinvar/208025 ^@ NM_020533.2(MCOLN1):c.1615delG (p.Ala539Profs) http://identifiers.org/clinvar/208024 ^@ NM_020533.2(MCOLN1):c.1704A>T (p.Gly568=) http://identifiers.org/clinvar/208020 ^@ AF287270:g.511_6943del http://identifiers.org/clinvar/208041 ^@ AF287270.1:g.12426A>T http://identifiers.org/clinvar/208047 ^@ NM_004421.2(DVL1):c.1615delA (p.Ser539Alafs) http://identifiers.org/clinvar/208050 ^@ NM_004421.2(DVL1):c.1576_1583delCCTGCCTAinsG (p.Pro526Alafs) http://identifiers.org/clinvar/208043 ^@ NM_004421.2(DVL1):c.1570_1571delTTinsC (p.Phe524Profs) http://identifiers.org/clinvar/208049 ^@ NM_004421.2(DVL1):c.1562delC (p.Pro521Hisfs) http://identifiers.org/clinvar/208048 ^@ NM_004421.2(DVL1):c.1529delG (p.Gly510Valfs) http://identifiers.org/clinvar/208045 ^@ NM_004421.2(DVL1):c.1519delT (p.Trp507Glyfs) http://identifiers.org/clinvar/208044 ^@ NM_004421.2(DVL1):c.1505_1517delACCCGGCTGCCCC (p.His502Profs) http://identifiers.org/clinvar/208046 ^@ NM_004421.2(DVL1):c.1508delC (p.Pro503Argfs) http://identifiers.org/clinvar/208064 ^@ NM_000296.3(PKD1):c.445delC (p.Gln149Serfs) http://identifiers.org/clinvar/208069 ^@ NM_000435.2(NOTCH3):c.6247A>T (p.Lys2083Ter) http://identifiers.org/clinvar/208070 ^@ NM_005589.3(ALDH6A1):c.785C>A (p.Ser262Tyr) http://identifiers.org/clinvar/208071 ^@ NM_005589.3(ALDH6A1):c.184C>T (p.Pro62Ser) http://identifiers.org/clinvar/208072 ^@ NM_005589.3(ALDH6A1):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/208073 ^@ NM_005589.3(ALDH6A1):c.514T>C (p.Tyr172His) http://identifiers.org/clinvar/208074 ^@ NM_012096.2(APPL1):c.1655T>A (p.Leu552Ter) http://identifiers.org/clinvar/208075 ^@ NM_012096.2(APPL1):c.280G>A (p.Asp94Asn) http://identifiers.org/clinvar/208076 ^@ NM_057179.2(TWIST2):c.224A>C (p.Glu75Ala) http://identifiers.org/clinvar/208077 ^@ NM_057179.2(TWIST2):c.223G>A (p.Glu75Lys) http://identifiers.org/clinvar/208078 ^@ NM_057179.2(TWIST2):c.223G>C (p.Glu75Gln) http://identifiers.org/clinvar/208079 ^@ NM_057179.2(TWIST2):c.229_234dupCAGCGC (p.Arg78_Thr79insGlnArg) http://identifiers.org/clinvar/208080 ^@ NM_000891.2(KCNJ2):c.271_282delGCTTTCGTCCTG (p.Ala91_Leu94del) http://identifiers.org/clinvar/208081 ^@ NM_000891.2(KCNJ2):c.966G>C (p.Trp322Cys) http://identifiers.org/clinvar/208082 ^@ NM_003722.4(TP63):c.1963delC (p.Arg655Glufs) http://identifiers.org/clinvar/208083 ^@ NM_000083.2(CLCN1):c.1283T>C (p.Phe428Ser) http://identifiers.org/clinvar/208084 ^@ NM_000083.2(CLCN1):c.1649C>T (p.Thr550Met) http://identifiers.org/clinvar/208085 ^@ NM_004456.4(EZH2):c.458A>G (p.Tyr153Cys) http://identifiers.org/clinvar/208122 ^@ NM_005866.3(SIGMAR1):c.*31A>G http://identifiers.org/clinvar/208123 ^@ NM_005866.3(SIGMAR1):c.151+1G>T http://identifiers.org/clinvar/208124 ^@ NM_032753.3(RAX2):c.465_475delCGCAGATGGCT (p.Ala156Argfs) http://identifiers.org/clinvar/208125 ^@ NM_005097.3(LGI1):c.1013T>C (p.Phe338Ser) http://identifiers.org/clinvar/208140 ^@ NM_001009944.2(PKD1):c.9988dupA (p.Ser3330Lysfs) http://identifiers.org/clinvar/208141 ^@ NM_007315.3(STAT1):c.832A>G (p.Lys278Glu) http://identifiers.org/clinvar/208142 ^@ NM_007315.3(STAT1):c.1151G>A (p.Gly384Asp) http://identifiers.org/clinvar/208143 ^@ NM_003839.3(TNFRSF11A):c.45_62dup18 (p.Leu21_Ala22insLeuLeuCysAlaLeuLeu) http://identifiers.org/clinvar/208144 ^@ NM_003839.3(TNFRSF11A):c.49_63dupCTCTGCGCGCTGCTC (p.Leu21_Ala22insLeuCysAlaLeuLeu) http://identifiers.org/clinvar/208145 ^@ NM_014722.4(RIPOR2):c.102-1G>A http://identifiers.org/clinvar/208149 ^@ NM_000530.7(MPZ):c.499G>A (p.Gly167Arg) http://identifiers.org/clinvar/208148 ^@ NM_000530.7(MPZ):c.487G>A (p.Gly163Arg) http://identifiers.org/clinvar/208146 ^@ NM_000530.7(MPZ):c.181G>A (p.Asp61Asn) http://identifiers.org/clinvar/208150 ^@ NC_000008.11:g.(6203133_6203648)_(6453217_6459745)del http://identifiers.org/clinvar/208153 ^@ NM_000050.4(ASS1):c.571G>A (p.Glu191Lys) http://identifiers.org/clinvar/208151 ^@ NM_001698.2(AUH):c.373C>T (p.Arg125Trp) http://identifiers.org/clinvar/208152 ^@ NM_000538.3(RFXAP):c.323T>A (p.Leu108Ter) http://identifiers.org/clinvar/208157 ^@ NM_001029882.3(AHDC1):c.3809delA (p.Gln1270Argfs) http://identifiers.org/clinvar/208159 ^@ NM_001029882.3(AHDC1):c.2529_2545del17 (p.Asp845Argfs) http://identifiers.org/clinvar/208158 ^@ NM_001029882.3(AHDC1):c.1945delG (p.Ala649Profs) http://identifiers.org/clinvar/208156 ^@ NM_001029882.3(AHDC1):c.1881delG (p.Gln627Hisfs) http://identifiers.org/clinvar/208155 ^@ NM_001029882.3(AHDC1):c.1122dupC (p.Gly375Argfs) http://identifiers.org/clinvar/208161 ^@ NM_001244008.1(KIF1A):c.647G>A (p.Arg216His) http://identifiers.org/clinvar/208160 ^@ NM_001244008.1(KIF1A):c.646C>T (p.Arg216Cys) http://identifiers.org/clinvar/208162 ^@ NM_006424.2(SLC34A2):c.212_224delACCTACCCACTCT (p.Asn71Ilefs) http://identifiers.org/clinvar/208168 ^@ NM_004836.6(EIF2AK3):c.1192C>T (p.Gln398Ter) http://identifiers.org/clinvar/208163 ^@ NM_001114978.1(TP63):c.740A>G (p.His247Arg) http://identifiers.org/clinvar/208165 ^@ NM_001015051.3(RUNX2):c.476G>A (p.Gly159Asp) http://identifiers.org/clinvar/208166 ^@ NM_152998.2(EZH2):c.149T>C (p.Leu50Ser) http://identifiers.org/clinvar/208170 ^@ NM_014112.4(TRPS1):c.1693C>T (p.Gln565Ter) http://identifiers.org/clinvar/208164 ^@ NM_001174146.1(LMX1B):c.306C>G (p.Tyr102Ter) http://identifiers.org/clinvar/208169 ^@ NM_001844.4(COL2A1):c.3301G>A (p.Gly1101Arg) http://identifiers.org/clinvar/208167 ^@ NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) http://identifiers.org/clinvar/208171 ^@ NM_007348.3(ATF6):c.355dupG (p.Glu119Glyfs) http://identifiers.org/clinvar/208172 ^@ NM_007348.3(ATF6):c.970C>T (p.Arg324Cys) http://identifiers.org/clinvar/208176 ^@ NM_007348.3(ATF6):c.1699T>A (p.Tyr567Asn) http://identifiers.org/clinvar/208195 ^@ NM_005957.4(MTHFR):c.1611T>A (p.Asn537Lys) http://identifiers.org/clinvar/208194 ^@ NM_005957.4(MTHFR):c.1606G>A (p.Val536Ile) http://identifiers.org/clinvar/208196 ^@ NM_005957.4(MTHFR):c.197C>T (p.Pro66Leu) http://identifiers.org/clinvar/208189 ^@ NM_004421.2(DVL1):c.1432+1_1433-1del http://identifiers.org/clinvar/208197 ^@ NM_015506.2(MMACHC):c.766_771delGCCCCC (p.Ala256_Pro257del) http://identifiers.org/clinvar/208199 ^@ NM_172250.2(MMAA):c.370C>T (p.Gln124Ter) http://identifiers.org/clinvar/208186 ^@ NM_001003841.2(SLC6A19):c.146G>A (p.Cys49Tyr) http://identifiers.org/clinvar/208188 ^@ NM_001713.2(BHMT):c.1196delA (p.Lys400Asnfs) http://identifiers.org/clinvar/208178 ^@ NM_000168.5(GLI3):c.1812+3A>T http://identifiers.org/clinvar/208187 ^@ NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) http://identifiers.org/clinvar/208185 ^@ NM_000783.3(CYP26A1):c.905A>G (p.His302Arg) http://identifiers.org/clinvar/208192 ^@ NM_005142.2(GIF):c.435_437delGAA (p.Lys145del) http://identifiers.org/clinvar/208191 ^@ NM_005142.2(GIF):c.346C>T (p.Gln116Ter) http://identifiers.org/clinvar/208190 ^@ NM_005142.2(GIF):c.-376A>T http://identifiers.org/clinvar/208179 ^@ NM_000277.1(PAH):c.1025C>A (p.Ala342Glu) http://identifiers.org/clinvar/208182 ^@ NM_000277.1(PAH):c.895T>C (p.Phe299Leu) http://identifiers.org/clinvar/208181 ^@ NM_000277.1(PAH):c.836C>T (p.Pro279Leu) http://identifiers.org/clinvar/208180 ^@ NM_000277.1(PAH):c.242C>A (p.Thr81Asn) http://identifiers.org/clinvar/208198 ^@ NM_052845.3(MMAB):c.37_54del18 (p.Gly13_Leu18del) http://identifiers.org/clinvar/208193 ^@ NM_005956.3(MTHFD1):c.826G>C (p.Gly276Arg) http://identifiers.org/clinvar/208177 ^@ NM_000071.2(CBS):c.362G>T (p.Arg121Leu) http://identifiers.org/clinvar/208183 ^@ NM_000355.3(TCN2):c.626C>G (p.Ser209Ter) http://identifiers.org/clinvar/208201 ^@ NM_001495.4(GFRA2):c.725C>T (p.Ser242Phe) http://identifiers.org/clinvar/208203 ^@ NM_001173984.2(BRD7):c.1837C>T (p.Arg613Ter) http://identifiers.org/clinvar/208207 ^@ NM_015404.3(WHRN):c.2423delG (p.Gly808Aspfs) http://identifiers.org/clinvar/208208 ^@ RARS2, -2A-G http://identifiers.org/clinvar/208237 ^@ NC_000014.9:g.95696766_96390792dup694027 http://identifiers.org/clinvar/208246 ^@ NM_004862.3(LITAF):c.404C>G (p.Pro135Arg) http://identifiers.org/clinvar/208245 ^@ NM_004862.3(LITAF):c.385G>A (p.Ala129Thr) http://identifiers.org/clinvar/208243 ^@ NM_000304.3(PMP22):c.117G>C (p.Trp39Cys) http://identifiers.org/clinvar/208244 ^@ NP_000521.1(MPZ):p.Asn116Ser http://identifiers.org/clinvar/208249 ^@ NM_005689.2(ABCB6):c.1663C>A (p.Gln555Lys) http://identifiers.org/clinvar/208281 ^@ NM_000528.3(MAN2B1):c.2999T>C (p.Phe1000Ser) http://identifiers.org/clinvar/208280 ^@ NM_000528.3(MAN2B1):c.2867T>G (p.Leu956Arg) http://identifiers.org/clinvar/208279 ^@ NM_000528.3(MAN2B1):c.2849G>C (p.Arg950Pro) http://identifiers.org/clinvar/208278 ^@ NM_000528.3(MAN2B1):c.2747G>A (p.Arg916His) http://identifiers.org/clinvar/208277 ^@ NM_000528.3(MAN2B1):c.2746C>T (p.Arg916Cys) http://identifiers.org/clinvar/208276 ^@ NM_000528.3(MAN2B1):c.2675T>C (p.Leu892Pro) http://identifiers.org/clinvar/208275 ^@ NM_000528.3(MAN2B1):c.2671G>A (p.Gly891Arg) http://identifiers.org/clinvar/208285 ^@ NM_000528.3(MAN2B1):c.2402G>A (p.Gly801Asp) http://identifiers.org/clinvar/208274 ^@ NM_000528.3(MAN2B1):c.2398G>T (p.Gly800Trp) http://identifiers.org/clinvar/208273 ^@ NM_000528.3(MAN2B1):c.2398G>C (p.Gly800Arg) http://identifiers.org/clinvar/208272 ^@ NM_000528.3(MAN2B1):c.2234C>G (p.Thr745Arg) http://identifiers.org/clinvar/208284 ^@ NM_000528.3(MAN2B1):c.2140T>C (p.Trp714Arg) http://identifiers.org/clinvar/208271 ^@ NM_000528.3(MAN2B1):c.1694T>C (p.Leu565Pro) http://identifiers.org/clinvar/208270 ^@ NM_000528.3(MAN2B1):c.1501T>A (p.Cys501Ser) http://identifiers.org/clinvar/208269 ^@ NM_000528.3(MAN2B1):c.1370T>A (p.Val457Glu) http://identifiers.org/clinvar/208268 ^@ NM_000528.3(MAN2B1):c.1358C>T (p.Ser453Phe) http://identifiers.org/clinvar/208267 ^@ NM_000528.3(MAN2B1):c.1358C>A (p.Ser453Tyr) http://identifiers.org/clinvar/208266 ^@ NM_000528.3(MAN2B1):c.1351G>T (p.Gly451Cys) http://identifiers.org/clinvar/208265 ^@ NM_000528.3(MAN2B1):c.1333C>T (p.His445Tyr) http://identifiers.org/clinvar/208264 ^@ NM_000528.3(MAN2B1):c.1259G>T (p.Gly420Val) http://identifiers.org/clinvar/208283 ^@ NM_000528.3(MAN2B1):c.1204G>A (p.Glu402Lys) http://identifiers.org/clinvar/208263 ^@ NM_000528.3(MAN2B1):c.1168G>T (p.Gly390Cys) http://identifiers.org/clinvar/208262 ^@ NM_000528.3(MAN2B1):c.1136C>T (p.Pro379Leu) http://identifiers.org/clinvar/208282 ^@ NM_000528.3(MAN2B1):c.1063A>C (p.Thr355Pro) http://identifiers.org/clinvar/208261 ^@ NM_000528.3(MAN2B1):c.1055T>C (p.Leu352Pro) http://identifiers.org/clinvar/208260 ^@ NM_000528.3(MAN2B1):c.953C>T (p.Ser318Leu) http://identifiers.org/clinvar/208259 ^@ NM_000528.3(MAN2B1):c.788C>T (p.Pro263Leu) http://identifiers.org/clinvar/208258 ^@ NM_000528.3(MAN2B1):c.685C>T (p.Arg229Trp) http://identifiers.org/clinvar/208257 ^@ NM_000528.3(MAN2B1):c.605G>C (p.Arg202Pro) http://identifiers.org/clinvar/208256 ^@ NM_000528.3(MAN2B1):c.599A>T (p.His200Leu) http://identifiers.org/clinvar/208255 ^@ NM_000528.3(MAN2B1):c.598C>A (p.His200Asn) http://identifiers.org/clinvar/208254 ^@ NM_000528.3(MAN2B1):c.590C>G (p.Pro197Arg) http://identifiers.org/clinvar/208253 ^@ NM_000528.3(MAN2B1):c.475G>A (p.Asp159Asn) http://identifiers.org/clinvar/208252 ^@ NM_000528.3(MAN2B1):c.283G>C (p.Ala95Pro) http://identifiers.org/clinvar/208251 ^@ NM_000528.3(MAN2B1):c.222C>A (p.Asp74Glu) http://identifiers.org/clinvar/208250 ^@ NM_000528.3(MAN2B1):c.164G>T (p.Cys55Phe) http://identifiers.org/clinvar/208335 ^@ NM_017431.2(PRKAG3):c.1019G>A (p.Arg340Gln) http://identifiers.org/clinvar/208334 ^@ NM_017431.2(PRKAG3):c.919C>T (p.Arg307Cys) http://identifiers.org/clinvar/208333 ^@ NM_017431.2(PRKAG3):c.806T>C (p.Ile269Thr) http://identifiers.org/clinvar/208332 ^@ NM_017431.2(PRKAG3):c.674G>A (p.Arg225Gln) http://identifiers.org/clinvar/208331 ^@ NM_017431.2(PRKAG3):c.631G>C (p.Glu211Gln) http://identifiers.org/clinvar/208330 ^@ NM_017431.2(PRKAG3):c.590T>C (p.Met197Thr) http://identifiers.org/clinvar/208329 ^@ NM_017431.2(PRKAG3):c.538G>A (p.Gly180Ser) http://identifiers.org/clinvar/208328 ^@ NM_017431.2(PRKAG3):c.338G>T (p.Gly113Val) http://identifiers.org/clinvar/208327 ^@ NM_017431.2(PRKAG3):c.308A>G (p.Asp103Gly) http://identifiers.org/clinvar/208326 ^@ NM_017431.2(PRKAG3):c.226G>C (p.Glu76Gln) http://identifiers.org/clinvar/208286 ^@ NM_012208.3(HARS2):c.1102G>T (p.Val368Leu) http://identifiers.org/clinvar/208292 ^@ NM_002900.2(RBP3):c.53G>T (p.Gly18Val) http://identifiers.org/clinvar/208293 ^@ NM_002900.2(RBP3):c.365G>A (p.Arg122His) http://identifiers.org/clinvar/208294 ^@ NM_002900.2(RBP3):c.463G>A (p.Val155Met) http://identifiers.org/clinvar/208295 ^@ NM_002900.2(RBP3):c.487T>C (p.Ser163Pro) http://identifiers.org/clinvar/208296 ^@ NM_002900.2(RBP3):c.586G>A (p.Val196Met) http://identifiers.org/clinvar/208297 ^@ NM_002900.2(RBP3):c.800G>A (p.Arg267Gln) http://identifiers.org/clinvar/208298 ^@ NM_002900.2(RBP3):c.844G>A (p.Val282Met) http://identifiers.org/clinvar/208299 ^@ NM_002900.2(RBP3):c.962C>T (p.Thr321Ile) http://identifiers.org/clinvar/208300 ^@ NM_002900.2(RBP3):c.1037G>A (p.Arg346His) http://identifiers.org/clinvar/208301 ^@ NM_002900.2(RBP3):c.1135G>A (p.Ala379Thr) http://identifiers.org/clinvar/208304 ^@ NM_002900.2(RBP3):c.1298C>T (p.Ser433Leu) http://identifiers.org/clinvar/208305 ^@ NM_002900.2(RBP3):c.1327C>A (p.Arg443Ser) http://identifiers.org/clinvar/208306 ^@ NM_002900.2(RBP3):c.1553A>G (p.Gln518Arg) http://identifiers.org/clinvar/208307 ^@ NM_002900.2(RBP3):c.1569C>G (p.His523Gln) http://identifiers.org/clinvar/208308 ^@ NM_002900.2(RBP3):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/208309 ^@ NM_002900.2(RBP3):c.1778T>C (p.Val593Ala) http://identifiers.org/clinvar/208310 ^@ NM_002900.2(RBP3):c.1795A>G (p.Ile599Val) http://identifiers.org/clinvar/208311 ^@ NM_002900.2(RBP3):c.1844C>T (p.Ala615Val) http://identifiers.org/clinvar/208312 ^@ NM_002900.2(RBP3):c.2024C>T (p.Thr675Ile) http://identifiers.org/clinvar/208313 ^@ NM_002900.2(RBP3):c.2063C>T (p.Ala688Val) http://identifiers.org/clinvar/208314 ^@ NM_002900.2(RBP3):c.2077G>A (p.Val693Met) http://identifiers.org/clinvar/208315 ^@ NM_002900.2(RBP3):c.2221G>A (p.Gly741Ser) http://identifiers.org/clinvar/208316 ^@ NM_002900.2(RBP3):c.2239C>T (p.Arg747Cys) http://identifiers.org/clinvar/208317 ^@ NM_002900.2(RBP3):c.2355C>A (p.Asn785Lys) http://identifiers.org/clinvar/208318 ^@ NM_002900.2(RBP3):c.2497C>T (p.Arg833Cys) http://identifiers.org/clinvar/208319 ^@ NM_002900.2(RBP3):c.2503G>A (p.Gly835Ser) http://identifiers.org/clinvar/208320 ^@ NM_002900.2(RBP3):c.2708C>G (p.Thr903Arg) http://identifiers.org/clinvar/208321 ^@ NM_002900.2(RBP3):c.2763C>A (p.Ser921Arg) http://identifiers.org/clinvar/208322 ^@ NM_002900.2(RBP3):c.2866G>A (p.Glu956Lys) http://identifiers.org/clinvar/208323 ^@ NM_002900.2(RBP3):c.2888C>T (p.Thr963Ile) http://identifiers.org/clinvar/208324 ^@ NM_002900.2(RBP3):c.3175G>A (p.Val1059Ile) http://identifiers.org/clinvar/208325 ^@ NM_002900.2(RBP3):c.3581C>T (p.Thr1194Met) http://identifiers.org/clinvar/208291 ^@ NM_000153.3(GALC):c.2041G>A (p.Val681Met) http://identifiers.org/clinvar/208302 ^@ NM_004863.3(SPTLC2):c.544G>C (p.Ala182Pro) http://identifiers.org/clinvar/208336 ^@ NM_001080432.2(FTO):c.956C>T (p.Ser319Phe) http://identifiers.org/clinvar/208339 ^@ NM_156039.3(CSF3R):c.1853C>T (p.Thr618Ile) http://identifiers.org/clinvar/208338 ^@ NM_175629.2(DNMT3A):c.1204C>T (p.Gln402Ter) http://identifiers.org/clinvar/208337 ^@ NM_017617.4(NOTCH1):c.4775T>G (p.Phe1592Cys) http://identifiers.org/clinvar/208340 ^@ NM_000502.5(EPX):c.1942G>A (p.Asp648Asn) http://identifiers.org/clinvar/208341 ^@ ACAT1, 1-BP DEL, 149C http://identifiers.org/clinvar/208353 ^@ NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) http://identifiers.org/clinvar/208352 ^@ NM_000240.3(MAOA):c.749_750insT (p.Ser251Lysfs) http://identifiers.org/clinvar/208354 ^@ NM_000125.3(ESR1):c.908A>G (p.Lys303Arg) http://identifiers.org/clinvar/208355 ^@ NM_003995.3(NPR2):c.1092delT (p.Ile364Metfs) http://identifiers.org/clinvar/208356 ^@ NM_003995.3(NPR2):c.2455C>T (p.Arg819Cys) http://identifiers.org/clinvar/208357 ^@ NM_003995.3(NPR2):c.226T>C (p.Ser76Pro) http://identifiers.org/clinvar/208358 ^@ NM_003995.3(NPR2):c.788G>C (p.Arg263Pro) http://identifiers.org/clinvar/208359 ^@ NM_003995.3(NPR2):c.328C>T (p.Arg110Cys) http://identifiers.org/clinvar/208360 ^@ NM_003995.3(NPR2):c.1249C>G (p.Gln417Glu) http://identifiers.org/clinvar/208361 ^@ NM_005982.3(SIX1):c.373G>A (p.Glu125Lys) http://identifiers.org/clinvar/208363 ^@ NM_033498.2(HK1):c.-249-3838G>C http://identifiers.org/clinvar/208364 ^@ NM_004700.3(KCNQ4):c.228_229dupGC (p.His77Argfs) http://identifiers.org/clinvar/208365 ^@ NM_004700.3(KCNQ4):c.689T>A (p.Val230Glu) http://identifiers.org/clinvar/208366 ^@ NM_004700.3(KCNQ4):c.806_808delCCT (p.Ser269del) http://identifiers.org/clinvar/208367 ^@ NM_004700.3(KCNQ4):c.808T>C (p.Tyr270His) http://identifiers.org/clinvar/208368 ^@ NM_004700.3(KCNQ4):c.823T>C (p.Trp275Arg) http://identifiers.org/clinvar/208369 ^@ NM_004700.3(KCNQ4):c.871C>T (p.Pro291Ser) http://identifiers.org/clinvar/208370 ^@ NM_004700.3(KCNQ4):c.872C>T (p.Pro291Leu) http://identifiers.org/clinvar/208371 ^@ NM_004700.3(KCNQ4):c.891G>T (p.Arg297Ser) http://identifiers.org/clinvar/208372 ^@ NM_004700.3(KCNQ4):c.1044_1051delTGCCTGGC (p.Ala349Profs) http://identifiers.org/clinvar/208373 ^@ NM_004700.3(KCNQ4):c.2039C>T (p.Ser680Phe) http://identifiers.org/clinvar/208375 ^@ NM_000143.3(FH):c.1210G>T (p.Glu404Ter) http://identifiers.org/clinvar/208374 ^@ NM_000143.3(FH):c.905-1G>A http://identifiers.org/clinvar/208389 ^@ NM_005529.6(HSPG2):c.4233C>T (p.Tyr1411=) http://identifiers.org/clinvar/208396 ^@ NM_001035.2(RYR2):c.2236C>T (p.Gln746Ter) http://identifiers.org/clinvar/208397 ^@ NM_001035.2(RYR2):c.2238A>C (p.Gln746His) http://identifiers.org/clinvar/208391 ^@ NM_207370.3(GPR153):c.217C>T (p.Arg73Cys) http://identifiers.org/clinvar/208387 ^@ NM_001079818.2(ITGA6):c.3186_3188delAGA (p.Glu1063del) http://identifiers.org/clinvar/208395 ^@ NM_015009.2(PDZRN3):c.820G>A (p.Asp274Asn) http://identifiers.org/clinvar/208398 ^@ NM_032538.2(TTBK1):c.773G>A (p.Arg258Gln) http://identifiers.org/clinvar/208394 ^@ NM_177524.2(MEST):c.532C>T (p.Pro178Ser) http://identifiers.org/clinvar/208388 ^@ NM_001199207.1(GTF2IRD1):c.1069C>T (p.Arg357Cys) http://identifiers.org/clinvar/208401 ^@ NM_021975.3(RELA):c.329T>C (p.Ile110Thr) http://identifiers.org/clinvar/208399 ^@ NM_138706.4(B3GNT6):c.552C>G (p.Asp184Glu) http://identifiers.org/clinvar/208386 ^@ NM_001199781.1(POC1B-GALNT4):c.1185C>T (p.Asn395=) http://identifiers.org/clinvar/208382 ^@ NM_207361.5(FREM2):c.8351G>A (p.Arg2784Lys) http://identifiers.org/clinvar/208406 ^@ NM_015316.2(PPP1R13B):c.215G>A (p.Arg72Gln) http://identifiers.org/clinvar/208383 ^@ NM_178860.4(SEZ6):c.678_686delTACCACCAC (p.Thr227_Thr229del) http://identifiers.org/clinvar/208390 ^@ NM_198993.3(STAC2):c.257G>A (p.Arg86Lys) http://identifiers.org/clinvar/208393 ^@ NM_001040025.2(ARL16):c.32G>T (p.Arg11Leu) http://identifiers.org/clinvar/208384 ^@ NM_001277126.1(NLRP12):c.858C>G (p.Pro286=) http://identifiers.org/clinvar/208402 ^@ NM_000961.3(PTGIS):c.824G>A (p.Arg275Gln) http://identifiers.org/clinvar/208404 ^@ NM_014338.3(PISD):c.45G>A (p.Ala15=) http://identifiers.org/clinvar/208405 ^@ NM_017514.4(PLXNA3):c.1847G>A (p.Arg616Gln) http://identifiers.org/clinvar/208411 ^@ NM_001165963.1(SCN1A):c.5744_5748delAGGAA (p.Glu1915Glyfs) http://identifiers.org/clinvar/208410 ^@ NM_001165963.1(SCN1A):c.5504_5512delTTGAACCGC (p.Leu1835_Pro1837del) http://identifiers.org/clinvar/208409 ^@ NM_001165963.1(SCN1A):c.5020_5025delGGCCTC (p.Gly1674_Leu1675del) http://identifiers.org/clinvar/208412 ^@ NM_001165963.1(SCN1A):c.2946+2T>G http://identifiers.org/clinvar/208408 ^@ NM_001165963.1(SCN1A):c.2686_2694delGTCTTGGCC (p.Val896_Ala898del) http://identifiers.org/clinvar/208413 ^@ NM_001199107.1(TBC1D24):c.1327G>A (p.Glu443Lys) http://identifiers.org/clinvar/208407 ^@ NM_000100.3(CSTB):c.-36_-24delGAGTCCCCTCGCC http://identifiers.org/clinvar/208414 ^@ NM_032436.3(CHAMP1):c.635delC (p.Pro212Leufs) http://identifiers.org/clinvar/208415 ^@ NM_032436.3(CHAMP1):c.1192C>T (p.Arg398Ter) http://identifiers.org/clinvar/208416 ^@ NM_032436.3(CHAMP1):c.1768C>T (p.Gln590Ter) http://identifiers.org/clinvar/208417 ^@ NM_032436.3(CHAMP1):c.1866_1867delCA (p.Asp622Glufs) http://identifiers.org/clinvar/208418 ^@ NM_003722.4(TP63):c.1037C>G (p.Ala346Gly) http://identifiers.org/clinvar/208419 ^@ NM_001042383.1(CEP63):c.686_687delGCinsTT (p.Arg229Leu) http://identifiers.org/clinvar/208421 ^@ NM_000059.3(BRCA2):c.5595_5596delATinsC (p.Phe1866Leufs) http://identifiers.org/clinvar/208427 ^@ NM_021939.3(FKBP10):c.877_879delTAC (p.Tyr293del) http://identifiers.org/clinvar/208428 ^@ NM_015025.3(MYT1L):c.2636+1G>A http://identifiers.org/clinvar/208429 ^@ NM_015025.3(MYT1L):c.1917T>G (p.Tyr639Ter) http://identifiers.org/clinvar/208448 ^@ NM_004369.3(COL6A3):c.6283-2A>C http://identifiers.org/clinvar/208449 ^@ NM_033071.3(SYNE1):c.4520T>A (p.Ile1507Asn) http://identifiers.org/clinvar/208450 ^@ NM_058004.3(PI4KA):c.2386C>T (p.Arg796Ter) http://identifiers.org/clinvar/208451 ^@ NM_058004.3(PI4KA):c.5560G>A (p.Asp1854Asn) http://identifiers.org/clinvar/208453 ^@ NM_004473.3(FOXE1):c.743C>G (p.Ala248Gly) http://identifiers.org/clinvar/208454 ^@ NM_001571.5(IRF3):c.854G>A (p.Arg285Gln) http://identifiers.org/clinvar/208455 ^@ NM_002204.3(ITGA3):c.1387C>T (p.Arg463Trp) http://identifiers.org/clinvar/208456 ^@ NM_020762.3(SRGAP1):c.447A>C (p.Gln149His) http://identifiers.org/clinvar/208457 ^@ NM_020762.3(SRGAP1):c.823G>A (p.Ala275Thr) http://identifiers.org/clinvar/208458 ^@ NM_020762.3(SRGAP1):c.1849C>T (p.Arg617Cys) http://identifiers.org/clinvar/208459 ^@ NM_016097.4(IER3IP1):c.80delT (p.Phe27Serfs) http://identifiers.org/clinvar/208464 ^@ NM_003047.4(SLC9A1):c.1391C>T (p.Ser464Phe) http://identifiers.org/clinvar/208465 ^@ NM_032856.3(WDR73):c.703C>T (p.Gln235Ter) http://identifiers.org/clinvar/208466 ^@ NM_032856.3(WDR73):c.400_401delAG (p.Trp136Alafs) http://identifiers.org/clinvar/208467 ^@ NM_032856.3(WDR73):c.1039C>T (p.His347Tyr) http://identifiers.org/clinvar/208468 ^@ NM_032856.3(WDR73):c.68T>A (p.Leu23Gln) http://identifiers.org/clinvar/208469 ^@ NM_032856.3(WDR73):c.940C>T (p.Gln314Ter) http://identifiers.org/clinvar/208470 ^@ NM_032856.3(WDR73):c.287G>A (p.Arg96Lys) http://identifiers.org/clinvar/208472 ^@ NM_005213.3(CSTA):c.64A>T (p.Lys22Ter) http://identifiers.org/clinvar/208473 ^@ NM_005213.3(CSTA):c.172C>T (p.Arg58Ter) http://identifiers.org/clinvar/242564 ^@ NM_016124.4(RHD):c.697G>C (p.Glu233Gln) http://identifiers.org/clinvar/242563 ^@ NM_016124.4(RHD):c.733G>C (p.Val245Leu) http://identifiers.org/clinvar/242562 ^@ NM_020485.4(RHCE):c.1117G>A (p.Ala373Thr) http://identifiers.org/clinvar/208483 ^@ NM_005045.3(RELN):c.2531C>T (p.Pro844Leu) http://identifiers.org/clinvar/208482 ^@ NM_005045.3(RELN):c.2168A>G (p.Tyr723Cys) http://identifiers.org/clinvar/208481 ^@ NM_005045.3(RELN):c.2015C>T (p.Pro672Leu) http://identifiers.org/clinvar/208475 ^@ NM_005097.3(LGI1):c.124T>C (p.Cys42Arg) http://identifiers.org/clinvar/208476 ^@ NM_005097.3(LGI1):c.124T>G (p.Cys42Gly) http://identifiers.org/clinvar/208477 ^@ NM_005097.3(LGI1):c.758delC (p.Ala253Valfs) http://identifiers.org/clinvar/208480 ^@ NM_005097.3(LGI1):c.1418C>T (p.Ser473Leu) http://identifiers.org/clinvar/208478 ^@ NM_005097.3(LGI1):c.1420C>T (p.Arg474Ter) http://identifiers.org/clinvar/208479 ^@ NC_000010.11:g.(93704376_?)_(?_93785619)del http://identifiers.org/clinvar/208496 ^@ NM_005572.3(LMNA):c.936+2T>C http://identifiers.org/clinvar/208486 ^@ NM_000393.4(COL5A2):c.4163C>A (p.Thr1388Asn) http://identifiers.org/clinvar/208485 ^@ NM_183357.2(ADCY5):c.2088+1G>T http://identifiers.org/clinvar/242561 ^@ NM_000404.3(GLB1):c.1285C>T (p.Pro429Ser) http://identifiers.org/clinvar/242560 ^@ NM_000404.3(GLB1):c.1097C>A (p.Pro366His) http://identifiers.org/clinvar/208499 ^@ NM_006772.2(SYNGAP1):c.388-2A>G http://identifiers.org/clinvar/242559 ^@ NM_001075098.3(MOCS1):c.1015C>T (p.Arg339Trp) http://identifiers.org/clinvar/242558 ^@ NM_005943.5(MOCS1):c.853G>A (p.Glu285Lys) http://identifiers.org/clinvar/208491 ^@ NM_001160224.1(RNF170):c.490G>A (p.Gly164Arg) http://identifiers.org/clinvar/208484 ^@ NM_003482.3(KMT2D):c.4237-2A>C http://identifiers.org/clinvar/208490 ^@ NM_006009.3(TUBA1A):c.1226T>C (p.Val409Ala) http://identifiers.org/clinvar/208500 ^@ NM_014191.3(SCN8A):c.2300C>T (p.Thr767Ile) http://identifiers.org/clinvar/208489 ^@ NM_001127713.1(ATL1):c.596T>A (p.Leu199Gln) http://identifiers.org/clinvar/208502 ^@ NM_000833.4(GRIN2A):c.314A>G (p.Asp105Gly) http://identifiers.org/clinvar/208487 ^@ NM_001083962.1(TCF4):c.968C>T (p.Ala323Val) http://identifiers.org/clinvar/208501 ^@ NM_000435.2(NOTCH3):c.457C>T (p.Arg153Cys) http://identifiers.org/clinvar/208492 ^@ NM_001972.3(ELANE):c.52G>C (p.Ala18Pro) http://identifiers.org/clinvar/208494 ^@ NM_001972.3(ELANE):c.561C>A (p.Cys187Ter) http://identifiers.org/clinvar/242557 ^@ NM_000026.3(ADSL):c.994G>C (p.Asp332His) http://identifiers.org/clinvar/208498 ^@ NM_001429.3(EP300):c.3573T>A (p.Tyr1191Ter) http://identifiers.org/clinvar/208493 ^@ NM_000292.2(PHKA2):c.883C>T (p.Arg295Cys) http://identifiers.org/clinvar/208503 ^@ NM_000397.3(CYBB):c.66C>A (p.Asn22Lys) http://identifiers.org/clinvar/208504 ^@ NM_000159.3(GCDH):c.*165A>G http://identifiers.org/clinvar/208505 ^@ NM_000159.3(GCDH):c.*288G>T http://identifiers.org/clinvar/208506 ^@ GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) http://identifiers.org/clinvar/208515 ^@ NM_022550.3(XRCC4):c.25delC (p.His9Thrfs) http://identifiers.org/clinvar/208516 ^@ NM_022406.3(XRCC4):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/208517 ^@ NM_022550.3(XRCC4):c.-10-1G>T http://identifiers.org/clinvar/208518 ^@ NM_022406.3(XRCC4):c.673C>T (p.Arg225Ter) http://identifiers.org/clinvar/208519 ^@ NM_022406.3(XRCC4):c.481C>T (p.Arg161Ter) http://identifiers.org/clinvar/208520 ^@ NM_022406.3(XRCC4):c.246T>G (p.Asp82Glu) http://identifiers.org/clinvar/208521 ^@ NM_022406.3(XRCC4):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/208522 ^@ NM_022406.3(XRCC4):c.760delG (p.Asp254Metfs) http://identifiers.org/clinvar/208523 ^@ NM_001081550.1(THOC2):c.1313T>C (p.Leu438Pro) http://identifiers.org/clinvar/208524 ^@ NM_001081550.1(THOC2):c.937C>T (p.Leu313Phe) http://identifiers.org/clinvar/208525 ^@ NM_001081550.1(THOC2):c.3034T>C (p.Ser1012Pro) http://identifiers.org/clinvar/208526 ^@ NM_001081550.1(THOC2):c.2399T>C (p.Ile800Thr) http://identifiers.org/clinvar/208527 ^@ NM_001080508.2(TBX18):c.1010delG (p.Gly337Valfs) http://identifiers.org/clinvar/208528 ^@ NM_001080508.2(TBX18):c.1570C>T (p.His524Tyr) http://identifiers.org/clinvar/208529 ^@ NM_001080508.2(TBX18):c.487A>G (p.Lys163Glu) http://identifiers.org/clinvar/208531 ^@ NM_014362.3(HIBCH):c.129dupA (p.Gly44Argfs) http://identifiers.org/clinvar/208532 ^@ NM_014362.3(HIBCH):c.1033G>A (p.Gly345Ser) http://identifiers.org/clinvar/208538 ^@ NM_020769.2(RTL9):c.3362C>T (p.Ser1121Leu) http://identifiers.org/clinvar/208535 ^@ NM_152424.3(AMER1):c.1034C>T (p.Ala345Val) http://identifiers.org/clinvar/208536 ^@ NM_001013627.2(NHSL2):c.586G>A (p.Glu196Lys) http://identifiers.org/clinvar/208537 ^@ NM_001172436.1(PHKA1):c.2228G>A (p.Arg743Gln) http://identifiers.org/clinvar/208533 ^@ NM_001271696.1(ABCB7):c.2044G>A (p.Gly682Ser) http://identifiers.org/clinvar/208534 ^@ NC_000023.10:g.77190006_77231471del41466 http://identifiers.org/clinvar/208540 ^@ NM_001165928.3(DAG1):c.220G>A (p.Val74Ile) http://identifiers.org/clinvar/208541 ^@ NM_001165928.3(DAG1):c.331G>A (p.Asp111Asn) http://identifiers.org/clinvar/208542 ^@ NM_001165928.3(DAG1):c.2006G>T (p.Cys669Phe) http://identifiers.org/clinvar/208543 ^@ NM_001165928.3(DAG1):c.743delC (p.Ala248Glufs) http://identifiers.org/clinvar/208544 ^@ NOS1, TYR1202TER http://identifiers.org/clinvar/208546 ^@ NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr) http://identifiers.org/clinvar/208547 ^@ NM_001356.4(DDX3X):c.977G>A (p.Arg326His) http://identifiers.org/clinvar/208548 ^@ NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter) http://identifiers.org/clinvar/208549 ^@ NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys) http://identifiers.org/clinvar/208550 ^@ NM_145020.4(CFAP53):c.121C>T (p.Arg41Ter) http://identifiers.org/clinvar/208553 ^@ NM_020919.3(ALS2):c.3529G>T (p.Gly1177Ter) http://identifiers.org/clinvar/208554 ^@ NM_020919.3(ALS2):c.3624+5G>C http://identifiers.org/clinvar/208582 ^@ NM_002016.1(FLG):c.2143C>T (p.Gln715Ter) http://identifiers.org/clinvar/208625 ^@ NM_206933.2(USH2A):c.4405C>T (p.Gln1469Ter) http://identifiers.org/clinvar/208607 ^@ NM_012414.3(RAB3GAP2):c.713-2A>G http://identifiers.org/clinvar/208574 ^@ NM_145861.2(EDARADD):c.299_300insAAC (p.Cys100_Phe215del) http://identifiers.org/clinvar/208561 ^@ NM_001103.3(ACTN2):c.1839+5G>C http://identifiers.org/clinvar/208599 ^@ NM_004543.4(NEB):c.18640-1G>C http://identifiers.org/clinvar/208602 ^@ NM_016953.3(PDE11A):c.171delT (p.Thr58Profs) http://identifiers.org/clinvar/208622 ^@ NM_133378.4(TTN):c.91330A>T (p.Lys30444Ter) http://identifiers.org/clinvar/208589 ^@ NM_015662.2(IFT172):c.112C>T (p.Arg38Ter) http://identifiers.org/clinvar/208585 ^@ NM_001244710.1(GFPT1):c.*22C>A http://identifiers.org/clinvar/208567 ^@ NM_001298.2(CNGA3):c.101+1G>A http://identifiers.org/clinvar/208570 ^@ NM_006371.4(CRTAP):c.471+2C>A http://identifiers.org/clinvar/208598 ^@ NM_199069.1(NDUFAF3):c.180_181insT (p.Asp61Terfs) http://identifiers.org/clinvar/208562 ^@ NM_001164712.1(AMT):c.870G>A (p.Trp290Ter) http://identifiers.org/clinvar/208584 ^@ NM_000158.3(GBE1):c.691+2T>C http://identifiers.org/clinvar/208605 ^@ NM_006017.2(PROM1):c.1177_1178delAT (p.Ile393Argfs) http://identifiers.org/clinvar/208600 ^@ NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter) http://identifiers.org/clinvar/208615 ^@ NM_001127698.1(SPINK5):c.2812_2813delGT (p.Val938Cysfs) http://identifiers.org/clinvar/208565 ^@ NM_000065.3(C6):c.1786C>T (p.Arg596Ter) http://identifiers.org/clinvar/208577 ^@ NM_004100.4(EYA4):c.1739-1G>A http://identifiers.org/clinvar/208588 ^@ NM_000416.2(IFNGR1):c.523delT (p.Tyr175Metfs) http://identifiers.org/clinvar/208616 ^@ NM_182961.3(SYNE1):c.3930_3931insGG (p.His1311Glyfs) http://identifiers.org/clinvar/208621 ^@ NM_019105.6(TNXB):c.4996C>T (p.Arg1666Ter) http://identifiers.org/clinvar/208604 ^@ NM_138694.3(PKHD1):c.9559delT (p.Ser3187Leufs) http://identifiers.org/clinvar/208578 ^@ NM_001142800.1(EYS):c.6528C>A (p.Tyr2176Ter) http://identifiers.org/clinvar/208579 ^@ NM_001142800.1(EYS):c.881C>G (p.Ser294Ter) http://identifiers.org/clinvar/208592 ^@ NM_001017361.2(KHDC3L):c.334C>T (p.Gln112Ter) http://identifiers.org/clinvar/208573 ^@ NM_001277115.1(DNAH11):c.7508_7509insTTG (p.Lys2504_Val2837delinsTer) http://identifiers.org/clinvar/208572 ^@ NM_001277115.1(DNAH11):c.8746C>T (p.Gln2916Ter) http://identifiers.org/clinvar/208619 ^@ NM_003235.4(TG):c.5184C>A (p.Cys1728Ter) http://identifiers.org/clinvar/208623 ^@ NM_000370.3(TTPA):c.19delC (p.Gln7Serfs) http://identifiers.org/clinvar/208595 ^@ NM_003829.4(MPDZ):c.4906C>T (p.Arg1636Ter) http://identifiers.org/clinvar/208587 ^@ NM_000197.1(HSD17B3):c.277+4A>T http://identifiers.org/clinvar/208569 ^@ NM_000494.3(COL17A1):c.2435-6_2440delTTTCAGAGGGGT http://identifiers.org/clinvar/208603 ^@ NM_006214.3(PHYH):c.766_767delGT (p.Val256Phefs) http://identifiers.org/clinvar/208601 ^@ NM_001015880.1(PAPSS2):c.1662_1666delATTCC (p.Phe555Serfs) http://identifiers.org/clinvar/208594 ^@ NM_000235.3(LIPA):c.253C>T (p.Gln85Ter) http://identifiers.org/clinvar/208618 ^@ NM_015631.5(TCTN3):c.877C>T (p.Gln293Ter) http://identifiers.org/clinvar/208557 ^@ NM_000392.4(ABCC2):c.3741+1G>A http://identifiers.org/clinvar/208620 ^@ NM_000360.3(TH):c.283delG (p.Ala95Argfs) http://identifiers.org/clinvar/208581 ^@ NM_022725.3(FANCF):c.690delT (p.Gly231Glufs) http://identifiers.org/clinvar/208590 ^@ NM_004517.3(ILK):c.211delC (p.Leu71Cysfs) http://identifiers.org/clinvar/208566 ^@ NM_172364.4(CACNA2D4):c.1882C>T (p.Arg628Ter) http://identifiers.org/clinvar/208608 ^@ NM_002905.3(RDH5):c.285G>A (p.Trp95Ter) http://identifiers.org/clinvar/208576 ^@ NM_000123.3(ERCC5):c.3238C>T (p.Arg1080Ter) http://identifiers.org/clinvar/208611 ^@ NM_000231.2(SGCG):c.195+4_195+7delAGTA http://identifiers.org/clinvar/208563 ^@ NM_001243182.1(ATP7B):c.383delG (p.Gly128Glufs) http://identifiers.org/clinvar/208597 ^@ NM_000257.3(MYH7):c.4031G>A (p.Arg1344Gln) http://identifiers.org/clinvar/208575 ^@ NM_014239.3(EIF2B2):c.599G>T (p.Gly200Val) http://identifiers.org/clinvar/208624 ^@ NM_174916.2(UBR1):c.4107T>A (p.Cys1369Ter) http://identifiers.org/clinvar/208593 ^@ NM_198525.2(KIF7):c.2944G>T (p.Glu982Ter) http://identifiers.org/clinvar/208558 ^@ NM_001171.5(ABCC6):c.3306+1delG http://identifiers.org/clinvar/208564 ^@ NM_031885.3(BBS2):c.661delC (p.Leu221Phefs) http://identifiers.org/clinvar/208612 ^@ NM_000339.2(SLC12A3):c.2221G>A (p.Gly741Arg) http://identifiers.org/clinvar/208568 ^@ NM_015386.2(COG4):c.529C>T (p.Arg177Ter) http://identifiers.org/clinvar/208580 ^@ NM_000135.2(FANCA):c.987_990delTCAC (p.His330Alafs) http://identifiers.org/clinvar/208596 ^@ NM_017534.5(MYH2):c.3002delA (p.Glu1001Glyfs) http://identifiers.org/clinvar/208559 ^@ NM_000789.3(ACE):c.12_31del20 (p.Ser5Alafs) http://identifiers.org/clinvar/208591 ^@ NM_000213.4(ITGB4):c.2783-2A>G http://identifiers.org/clinvar/208560 ^@ NM_004035.6(ACOX1):c.1851delT (p.Gly618Alafs) http://identifiers.org/clinvar/208614 ^@ NM_014270.4(SLC7A9):c.1399+4_1399+7delAGTA http://identifiers.org/clinvar/208606 ^@ NM_181882.2(PRX):c.2289delT (p.Asp765Thrfs) http://identifiers.org/clinvar/208613 ^@ NM_001174089.1(SLC4A11):c.425_433delGCTTCGCCAinsC (p.Arg142Profs) http://identifiers.org/clinvar/208571 ^@ NM_000782.4(CYP24A1):c.1039C>T (p.Gln347Ter) http://identifiers.org/clinvar/208586 ^@ NM_024747.5(HPS6):c.238dupG (p.Asp80Glyfs) http://identifiers.org/clinvar/208609 ^@ NM_015272.4(RPGRIP1L):c.3300_3301insTC (p.Ala1101Serfs) http://identifiers.org/clinvar/208610 ^@ NM_032861.3(SERAC1):c.265_265+1insCATG http://identifiers.org/clinvar/208617 ^@ NM_006755.1(TALDO1):c.516dupC http://identifiers.org/clinvar/208627 ^@ NM_006306.3(SMC1A):c.3549_3552dupGGCC (p.Ile1185Glyfs) http://identifiers.org/clinvar/208626 ^@ NM_006306.3(SMC1A):c.2853_2856delTCAG (p.Ser951Argfs) http://identifiers.org/clinvar/208628 ^@ NM_005932.3(MIPEP):c.1745T>G (p.Leu582Arg) http://identifiers.org/clinvar/208629 ^@ NM_005932.3(MIPEP):c.212T>A (p.Leu71Gln) http://identifiers.org/clinvar/208630 ^@ NM_005932.3(MIPEP):c.916C>T (p.Leu306Phe) http://identifiers.org/clinvar/208631 ^@ NM_005932.3(MIPEP):c.1804G>T (p.Glu602Ter) http://identifiers.org/clinvar/208632 ^@ NM_005932.3(MIPEP):c.1027A>G (p.Lys343Glu) http://identifiers.org/clinvar/208633 ^@ NM_005932.3(MIPEP):c.1534C>G (p.His512Asp) http://identifiers.org/clinvar/208642 ^@ NM_000553.4(WRN):c.487_488delGA (p.Asp163Cysfs) http://identifiers.org/clinvar/208636 ^@ NM_000051.3(ATM):c.4111delG (p.Asp1371Ilefs) http://identifiers.org/clinvar/208640 ^@ NM_020937.3(FANCM):c.1491dupA (p.Gln498Thrfs) http://identifiers.org/clinvar/208641 ^@ NM_001040108.1(MLH3):c.2116delA (p.Thr706Glnfs) http://identifiers.org/clinvar/208639 ^@ NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) http://identifiers.org/clinvar/208637 ^@ NM_001287246.1(BLM):c.3014_3015insTATCA (p.Met1006Ilefs) http://identifiers.org/clinvar/208638 ^@ NM_000135.2(FANCA):c.4015delC (p.Leu1339Serfs) http://identifiers.org/clinvar/208789 ^@ NM_014849.4(SV2A):c.1148G>A (p.Arg383Gln) http://identifiers.org/clinvar/208665 ^@ NM_005850.4(SF3B4):c.164-1G>A http://identifiers.org/clinvar/208765 ^@ NM_000530.7(MPZ):c.380G>C (p.Cys127Ser) http://identifiers.org/clinvar/208722 ^@ NM_002074.4(GNB1):c.239T>C (p.Ile80Thr) http://identifiers.org/clinvar/208731 ^@ NM_001039802.1(CDC42):c.68A>G (p.Tyr23Cys) http://identifiers.org/clinvar/208668 ^@ NM_001039802.1(CDC42):c.196A>G (p.Arg66Gly) http://identifiers.org/clinvar/208652 ^@ NM_021180.3(GRHL3):c.1810C>G (p.Leu604Val) http://identifiers.org/clinvar/208690 ^@ NM_205768.2(ZBTB18):c.1382A>G (p.Asn461Ser) http://identifiers.org/clinvar/208751 ^@ NM_004964.2(HDAC1):c.461A>G (p.Asn154Ser) http://identifiers.org/clinvar/208693 ^@ NM_003579.3(RAD54L):c.1033G>T (p.Gly345Cys) http://identifiers.org/clinvar/208754 ^@ NM_006922.3(SCN3A):c.1318C>T (p.Gln440Ter) http://identifiers.org/clinvar/208771 ^@ NM_021007.2(SCN2A):c.3637T>G (p.Phe1213Val) http://identifiers.org/clinvar/208746 ^@ NM_021007.2(SCN2A):c.4940G>A (p.Arg1647His) http://identifiers.org/clinvar/208781 ^@ NM_001165963.1(SCN1A):c.4521C>G (p.Tyr1507Ter) http://identifiers.org/clinvar/208778 ^@ NM_001165963.1(SCN1A):c.4013A>C (p.Asn1338Thr) http://identifiers.org/clinvar/208673 ^@ NM_015265.3(SATB2):c.847C>T (p.Arg283Ter) http://identifiers.org/clinvar/208757 ^@ NM_020919.3(ALS2):c.4897C>T (p.Gln1633Ter) http://identifiers.org/clinvar/208716 ^@ NM_212482.2(FN1):c.3051G>T (p.Trp1017Cys) http://identifiers.org/clinvar/208649 ^@ NM_004321.7(KIF1A):c.3365C>T (p.Thr1122Met) http://identifiers.org/clinvar/208711 ^@ NM_001035256.2(POMC):c.20_21ins25 http://identifiers.org/clinvar/208714 ^@ NM_175629.2(DNMT3A):c.892G>T (p.Gly298Trp) http://identifiers.org/clinvar/208756 ^@ NM_007046.3(EMILIN1):c.64G>A (p.Ala22Thr) http://identifiers.org/clinvar/208644 ^@ NM_014946.3(SPAST):c.1168A>G (p.Met390Val) http://identifiers.org/clinvar/208707 ^@ NM_006196.3(PCBP1):c.550C>T (p.Gln184Ter) http://identifiers.org/clinvar/208792 ^@ NM_001615.3(ACTG2):c.770G>A (p.Arg257His) http://identifiers.org/clinvar/208752 ^@ NM_080916.2(DGUOK):c.211C>G (p.Pro71Ala) http://identifiers.org/clinvar/208670 ^@ NM_183357.2(ADCY5):c.1425C>G (p.Ile475Met) http://identifiers.org/clinvar/208762 ^@ NM_002662.4(PLD1):c.2531A>G (p.His844Arg) http://identifiers.org/clinvar/208674 ^@ NM_001904.3(CTNNB1):c.1723G>A (p.Gly575Arg) http://identifiers.org/clinvar/208786 ^@ NM_002222.5(ITPR1):c.800C>T (p.Thr267Met) http://identifiers.org/clinvar/208679 ^@ NM_000094.3(COL7A1):c.6724G>C (p.Gly2242Arg) http://identifiers.org/clinvar/208782 ^@ NM_001080517.2(SETD5):c.1783-2A>T http://identifiers.org/clinvar/208701 ^@ NM_000142.4(FGFR3):c.1078G>A (p.Glu360Lys) http://identifiers.org/clinvar/208715 ^@ NM_004787.3(SLIT2):c.4220A>G (p.Asp1407Gly) http://identifiers.org/clinvar/208661 ^@ NM_005859.4(PURA):c.472G>T (p.Asp158Tyr) http://identifiers.org/clinvar/208768 ^@ NM_005859.4(PURA):c.927_940delCACCCTGCTACTGC (p.Thr310Glyfs) http://identifiers.org/clinvar/208692 ^@ NM_002609.3(PDGFRB):c.1996A>C (p.Asn666His) http://identifiers.org/clinvar/208654 ^@ NM_020732.3(ARID1B):c.4171_4172delAT (p.Met1391Valfs) http://identifiers.org/clinvar/208730 ^@ NM_080680.2(COL11A2):c.2268+1G>T http://identifiers.org/clinvar/208669 ^@ NM_001753.4(CAV1):c.479_480delTT (p.Phe160Terfs) http://identifiers.org/clinvar/208650 ^@ NM_002047.3(GARS):c.373G>A (p.Glu125Lys) http://identifiers.org/clinvar/208776 ^@ NM_001101.3(ACTB):c.537C>G (p.Asp179Glu) http://identifiers.org/clinvar/208775 ^@ NM_000089.3(COL1A2):c.1361G>T (p.Gly454Val) http://identifiers.org/clinvar/208733 ^@ NM_014112.4(TRPS1):c.2627C>T (p.Ser876Phe) http://identifiers.org/clinvar/208735 ^@ NM_017780.3(CHD7):c.5166dupC (p.Gln1723Profs) http://identifiers.org/clinvar/208726 ^@ NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) http://identifiers.org/clinvar/208686 ^@ NM_003165.3(STXBP1):c.875G>T (p.Arg292Leu) http://identifiers.org/clinvar/208743 ^@ NM_007327.3(GRIN1):c.2443G>A (p.Gly815Arg) http://identifiers.org/clinvar/208737 ^@ NM_001003800.1(BICD2):c.1589T>C (p.Phe530Ser) http://identifiers.org/clinvar/208656 ^@ NM_005445.3(SMC3):c.2750A>C (p.His917Pro) http://identifiers.org/clinvar/208648 ^@ NM_006624.5(ZMYND11):c.1798C>T (p.Arg600Trp) http://identifiers.org/clinvar/208700 ^@ NM_012330.3(KAT6B):c.4101dupG (p.Glu1368Glyfs) http://identifiers.org/clinvar/208723 ^@ NM_000314.6(PTEN):c.71A>G (p.Asp24Gly) http://identifiers.org/clinvar/208790 ^@ NM_001931.4(DLAT):c.470T>G (p.Val157Gly) http://identifiers.org/clinvar/208760 ^@ NM_001197104.1(KMT2A):c.1868delA (p.Lys623Serfs) http://identifiers.org/clinvar/208741 ^@ NM_000190.3(HMBS):c.427G>A (p.Val143Met) http://identifiers.org/clinvar/208740 ^@ NM_006946.2(SPTBN2):c.1915G>T (p.Glu639Ter) http://identifiers.org/clinvar/208784 ^@ NM_002335.3(LRP5):c.500G>C (p.Trp167Ser) http://identifiers.org/clinvar/208717 ^@ NM_001145308.4(LRTOMT):c.613_614insAGCT (p.Ser207Alafs) http://identifiers.org/clinvar/208729 ^@ NM_130466.3(UBE3B):c.2990G>C (p.Arg997Pro) http://identifiers.org/clinvar/208643 ^@ NM_000834.3(GRIN2B):c.2459G>C (p.Gly820Ala) http://identifiers.org/clinvar/208749 ^@ NM_000834.3(GRIN2B):c.1916C>T (p.Ala639Val) http://identifiers.org/clinvar/208682 ^@ NM_000719.6(CACNA1C):c.3497T>C (p.Ile1166Thr) http://identifiers.org/clinvar/208748 ^@ NM_000217.2(KCNA1):c.1202C>T (p.Ala401Val) http://identifiers.org/clinvar/208666 ^@ NM_005419.3(STAT2):c.989G>A (p.Arg330Gln) http://identifiers.org/clinvar/208663 ^@ NM_001845.5(COL4A1):c.2494G>A (p.Gly832Arg) http://identifiers.org/clinvar/208773 ^@ NM_001846.3(COL4A2):c.4147G>A (p.Gly1383Arg) http://identifiers.org/clinvar/208709 ^@ NM_001376.4(DYNC1H1):c.4700G>A (p.Arg1567Gln) http://identifiers.org/clinvar/208734 ^@ NM_001376.4(DYNC1H1):c.9754_9756delAAG (p.Lys3254del) http://identifiers.org/clinvar/208747 ^@ NM_001376.4(DYNC1H1):c.10033G>A (p.Glu3345Lys) http://identifiers.org/clinvar/208645 ^@ NM_001376.4(DYNC1H1):c.12211A>G (p.Ile4071Val) http://identifiers.org/clinvar/208647 ^@ NM_001170629.1(CHD8):c.2831_2835delGTGTT (p.Cys944Tyrfs) http://identifiers.org/clinvar/208788 ^@ NM_000369.2(TSHR):c.1342G>A (p.Val448Ile) http://identifiers.org/clinvar/208684 ^@ NM_019066.4(MAGEL2):c.1912C>T (p.Gln638Ter) http://identifiers.org/clinvar/208713 ^@ NM_130838.1(UBE3A):c.1254_1342del89 (p.Lys418Asnfs) http://identifiers.org/clinvar/208725 ^@ NM_001271.3(CHD2):c.5035C>T (p.Arg1679Ter) http://identifiers.org/clinvar/208710 ^@ NM_000296.3(PKD1):c.7546C>T (p.Arg2516Cys) http://identifiers.org/clinvar/208772 ^@ NM_004608.3(TBX6):c.512G>A (p.Arg171His) http://identifiers.org/clinvar/208655 ^@ NM_004380.2(CREBBP):c.4409A>G (p.His1470Arg) http://identifiers.org/clinvar/208774 ^@ NM_018206.5(VPS35):c.1463A>G (p.Gln488Arg) http://identifiers.org/clinvar/208677 ^@ NM_138736.2(GNAO1):c.626G>A (p.Arg209His) http://identifiers.org/clinvar/208777 ^@ NM_020988.2(GNAO1):c.736G>A (p.Glu246Lys) http://identifiers.org/clinvar/208728 ^@ NM_024306.4(FA2H):c.565C>T (p.Arg189Ter) http://identifiers.org/clinvar/208785 ^@ NM_001077416.2(TMEM231):c.949G>A (p.Glu317Lys) http://identifiers.org/clinvar/208708 ^@ NM_013275.5(ANKRD11):c.7825C>T (p.Gln2609Ter) http://identifiers.org/clinvar/208695 ^@ NM_013275.5(ANKRD11):c.7569+1G>A http://identifiers.org/clinvar/208780 ^@ NM_017534.5(MYH2):c.5282C>T (p.Ala1761Val) http://identifiers.org/clinvar/208736 ^@ NM_002470.3(MYH3):c.5605_5659-47del http://identifiers.org/clinvar/208766 ^@ NM_001042492.2(NF1):c.4729C>T (p.Gln1577Ter) http://identifiers.org/clinvar/208767 ^@ NM_002878.3(RAD51D):c.47T>C (p.Met16Thr) http://identifiers.org/clinvar/208662 ^@ NM_005557.3(KRT16):c.887T>C (p.Met296Thr) http://identifiers.org/clinvar/208646 ^@ NM_021939.3(FKBP10):c.1343_1344delTG (p.Val448Glyfs) http://identifiers.org/clinvar/208689 ^@ NM_018896.4(CACNA1G):c.2128A>T (p.Ser710Cys) http://identifiers.org/clinvar/208688 ^@ NM_004859.3(CLTC):c.2737_2738dupGA (p.Asp913Glufs) http://identifiers.org/clinvar/208680 ^@ NM_005964.3(MYH10):c.2722G>T (p.Glu908Ter) http://identifiers.org/clinvar/208683 ^@ NM_001003652.3(SMAD2):c.935G>C (p.Cys312Ser) http://identifiers.org/clinvar/208764 ^@ NM_005559.3(LAMA1):c.7870T>C (p.Tyr2624His) http://identifiers.org/clinvar/208651 ^@ NM_001128849.1(SMARCA4):c.2859+1G>C http://identifiers.org/clinvar/208724 ^@ NM_002501.3(NFIX):c.361C>T (p.Arg121Cys) http://identifiers.org/clinvar/208697 ^@ NM_001001563.3(TIMM50):c.1114G>A (p.Gly372Ser) http://identifiers.org/clinvar/208704 ^@ NM_152296.4(ATP1A3):c.971A>G (p.Glu324Gly) http://identifiers.org/clinvar/208699 ^@ NM_015125.4(CIC):c.3482C>T (p.Thr1161Ile) http://identifiers.org/clinvar/208763 ^@ NM_006179.4(NTF4):c.521A>G (p.Gln174Arg) http://identifiers.org/clinvar/208671 ^@ NM_004977.2(KCNC3):c.1268G>A (p.Arg423His) http://identifiers.org/clinvar/208672 ^@ NM_130811.3(SNAP25):c.142G>T (p.Val48Phe) http://identifiers.org/clinvar/208787 ^@ NM_000214.2(JAG1):c.806C>T (p.Pro269Leu) http://identifiers.org/clinvar/208702 ^@ NM_000516.5(GNAS):c.163A>G (p.Thr55Ala) http://identifiers.org/clinvar/208681 ^@ NM_207034.2(EDN3):c.472C>A (p.Arg158Ser) http://identifiers.org/clinvar/208758 ^@ NM_172107.3(KCNQ2):c.710A>G (p.Tyr237Cys) http://identifiers.org/clinvar/208761 ^@ NM_172107.3(KCNQ2):c.693G>C (p.Glu231Asp) http://identifiers.org/clinvar/208698 ^@ NM_002745.4(MAPK1):c.404G>C (p.Arg135Thr) http://identifiers.org/clinvar/208712 ^@ NM_003560.2(PLA2G6):c.1019_1025delGGGCCAA (p.Gly340Alafs) http://identifiers.org/clinvar/208759 ^@ NM_033517.1(SHANK3):c.3679dupG (p.Ala1227Glyfs) http://identifiers.org/clinvar/208675 ^@ NM_001099922.2(ALG13):c.2106T>G (p.Ser702Arg) http://identifiers.org/clinvar/208727 ^@ NM_004541.3(NDUFA1):c.127T>C (p.Tyr43His) http://identifiers.org/clinvar/208657 ^@ NM_003588.3(CUL4B):c.1906+1G>A http://identifiers.org/clinvar/208718 ^@ NM_032458.2(PHF6):c.915_916delTGinsAA (p.Cys305Ter) http://identifiers.org/clinvar/208732 ^@ NM_003611.2(OFD1):c.929T>C (p.Phe310Ser) http://identifiers.org/clinvar/208769 ^@ NM_003611.2(OFD1):c.2789_2793delTAAAA (p.Ile930Lysfs) http://identifiers.org/clinvar/208720 ^@ NM_001017980.3(VMA21):c.163+4A>G http://identifiers.org/clinvar/208742 ^@ NM_002641.3(PIGA):c.98A>G (p.His33Arg) http://identifiers.org/clinvar/208664 ^@ NM_003491.3(NAA10):c.247C>T (p.Arg83Cys) http://identifiers.org/clinvar/208691 ^@ NM_005334.2(HCFC1):c.5860G>A (p.Gly1954Arg) http://identifiers.org/clinvar/208779 ^@ NM_005334.2(HCFC1):c.3356C>T (p.Thr1119Ile) http://identifiers.org/clinvar/208770 ^@ NM_198270.3(NHS):c.1112G>A (p.Arg371Gln) http://identifiers.org/clinvar/208653 ^@ NM_003159.2(CDKL5):c.514G>A (p.Val172Ile) http://identifiers.org/clinvar/208738 ^@ NM_000292.2(PHKA2):c.3383T>C (p.Leu1128Pro) http://identifiers.org/clinvar/208676 ^@ NM_000292.2(PHKA2):c.884G>A (p.Arg295His) http://identifiers.org/clinvar/208783 ^@ NM_000284.3(PDHA1):c.784G>A (p.Val262Ile) http://identifiers.org/clinvar/208739 ^@ NM_173495.2(PTCHD1):c.1835_1839delTGTTGinsGAA (p.Met612Argfs) http://identifiers.org/clinvar/208685 ^@ NM_003688.3(CASK):c.2471A>G (p.Gln824Arg) http://identifiers.org/clinvar/208659 ^@ NM_012280.3(FTSJ1):c.34T>A (p.Tyr12Asn) http://identifiers.org/clinvar/208678 ^@ NM_003179.2(SYP):c.520G>A (p.Glu174Lys) http://identifiers.org/clinvar/208753 ^@ NM_001111125.2(IQSEC2):c.2582G>C (p.Ser861Thr) http://identifiers.org/clinvar/208694 ^@ NM_001111125.2(IQSEC2):c.2052_2053delCG (p.Cys684Terfs) http://identifiers.org/clinvar/208703 ^@ NM_006306.3(SMC1A):c.3196C>T (p.Arg1066Cys) http://identifiers.org/clinvar/208791 ^@ NM_031407.6(HUWE1):c.6632A>G (p.Asn2211Ser) http://identifiers.org/clinvar/208658 ^@ NM_018684.3(ZC4H2):c.148C>T (p.Gln50Ter) http://identifiers.org/clinvar/208745 ^@ NM_031206.4(LAS1L):c.1430G>A (p.Ser477Asn) http://identifiers.org/clinvar/208705 ^@ NM_181672.2(OGT):c.775G>A (p.Ala259Thr) http://identifiers.org/clinvar/208660 ^@ NM_000489.4(ATRX):c.740A>G (p.Asn247Ser) http://identifiers.org/clinvar/208793 ^@ AFP, -55C-A http://identifiers.org/clinvar/208796 ^@ NM_003588.3(CUL4B):c.1906+1G>T http://identifiers.org/clinvar/208797 ^@ NM_003588.3(CUL4B):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/208798 ^@ NM_001017980.3(VMA21):c.54-27A>C http://identifiers.org/clinvar/208799 ^@ NM_001017980.3(VMA21):c.54-27A>T http://identifiers.org/clinvar/208801 ^@ NM_001017980.3(VMA21):c.164-7T>G http://identifiers.org/clinvar/208802 ^@ NM_001017980.3(VMA21):c.272G>C (p.Gly91Ala) http://identifiers.org/clinvar/208803 ^@ NM_001017980.3(VMA21):c.*6A>G http://identifiers.org/clinvar/208804 ^@ NM_001017980.3(VMA21):c.164-6T>G http://identifiers.org/clinvar/208805 ^@ NM_001017980.3(VMA21):c.*13_*104del http://identifiers.org/clinvar/208806 ^@ NM_001017980.3(VMA21):c.54-16_54-8del http://identifiers.org/clinvar/208808 ^@ TNFRSF11B, 245-KB DEL http://identifiers.org/clinvar/208809 ^@ NM_002546.3(TNFRSF11B):c.226A>C (p.Thr76Pro) http://identifiers.org/clinvar/208810 ^@ NM_032485.5(MCM8):c.1954-1G>A http://identifiers.org/clinvar/208811 ^@ NM_032485.5(MCM8):c.1470_1471insTA (p.Leu491Tyrfs) http://identifiers.org/clinvar/208812 ^@ NM_001244189.1(KIAA0586):c.230C>G (p.Ser77Ter) http://identifiers.org/clinvar/208813 ^@ NM_001244189.1(KIAA0586):c.1815G>A (p.Gln605=) http://identifiers.org/clinvar/208814 ^@ NM_152419.2(HGSNAT):c.398G>C (p.Gly133Ala) http://identifiers.org/clinvar/208815 ^@ NM_152419.2(HGSNAT):c.370A>T (p.Arg124Trp) http://identifiers.org/clinvar/208816 ^@ NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) http://identifiers.org/clinvar/208817 ^@ NM_152419.2(HGSNAT):c.1209G>T (p.Trp403Cys) http://identifiers.org/clinvar/208821 ^@ NM_005228.4(EGFR):c.2305G>A (p.Val769Met) http://identifiers.org/clinvar/208822 ^@ NM_005228.4(EGFR):c.2512C>G (p.Leu838Val) http://identifiers.org/clinvar/208823 ^@ NM_152906.6(TANGO2):c.460G>A (p.Gly154Arg) http://identifiers.org/clinvar/208824 ^@ NM_152906.6(TANGO2):c.605+1G>A http://identifiers.org/clinvar/208827 ^@ NM_005850.4(SF3B4):c.1252_1258delCTTCGAG (p.Leu418Alafs) http://identifiers.org/clinvar/208828 ^@ NM_005850.4(SF3B4):c.1232delC (p.Pro411Glnfs) http://identifiers.org/clinvar/208829 ^@ NM_005850.4(SF3B4):c.1199delC (p.Pro400Leufs) http://identifiers.org/clinvar/208830 ^@ NM_005850.4(SF3B4):c.1148dupA (p.His383Glnfs) http://identifiers.org/clinvar/208831 ^@ NM_005850.4(SF3B4):c.1060dupC (p.Arg354Profs) http://identifiers.org/clinvar/208833 ^@ NM_005850.4(SF3B4):c.864delT (p.His288Glnfs) http://identifiers.org/clinvar/208834 ^@ NM_005850.4(SF3B4):c.836_837insGGGTATG (p.Thr280Glyfs) http://identifiers.org/clinvar/208835 ^@ NM_005850.4(SF3B4):c.827dupC (p.Ser277Ilefs) http://identifiers.org/clinvar/208836 ^@ NM_005850.4(SF3B4):c.796dupA (p.Met266Asnfs) http://identifiers.org/clinvar/208837 ^@ NM_005850.4(SF3B4):c.769delA (p.Ile257Tyrfs) http://identifiers.org/clinvar/208838 ^@ NM_005850.4(SF3B4):c.661_664dupCCCA (p.Asn222Thrfs) http://identifiers.org/clinvar/208839 ^@ NM_005850.4(SF3B4):c.625C>T (p.Gln209Ter) http://identifiers.org/clinvar/208840 ^@ NM_005850.4(SF3B4):c.452C>A (p.Ser151Ter) http://identifiers.org/clinvar/208841 ^@ NM_005850.4(SF3B4):c.88delT (p.Trp30Glyfs) http://identifiers.org/clinvar/208842 ^@ NM_001318245.1(MYO18B):c.6908C>A (p.Ser2303Ter) http://identifiers.org/clinvar/208843 ^@ NM_001105.4(ACVR1):c.587T>C (p.Leu196Pro) http://identifiers.org/clinvar/208844 ^@ NM_003793.3(CTSF):c.213+1G>C http://identifiers.org/clinvar/208847 ^@ NM_018139.2(DNAAF2):c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) http://identifiers.org/clinvar/208846 ^@ NP_000539.2(TSC2):p.Gln1579Pro http://identifiers.org/clinvar/208848 ^@ NM_001909.4(CTSD):c.446G>T (p.Gly149Val) http://identifiers.org/clinvar/208849 ^@ NM_001909.4(CTSD):c.1196G>A (p.Arg399His) http://identifiers.org/clinvar/208850 ^@ NM_001023.3(RPS20):c.147dupA (p.Val50Serfs) http://identifiers.org/clinvar/208851 ^@ NM_002185.3(IL7R):c.333T>A (p.Val111=) http://identifiers.org/clinvar/208852 ^@ NM_000208.3(INSR):c.394G>A (p.Gly132Ser) http://identifiers.org/clinvar/208856 ^@ NM_000267.3(NF1):c.5425C>A (p.Arg1809Ser) http://identifiers.org/clinvar/208857 ^@ NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) http://identifiers.org/clinvar/208853 ^@ NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) http://identifiers.org/clinvar/208855 ^@ NM_000267.3(NF1):c.5426G>C (p.Arg1809Pro) http://identifiers.org/clinvar/208854 ^@ NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) http://identifiers.org/clinvar/208858 ^@ NM_001111125.2(IQSEC2):c.3116-3_3116-2delCA http://identifiers.org/clinvar/208859 ^@ NM_003922.3(HERC1):c.4906-2A>C http://identifiers.org/clinvar/208860 ^@ NM_000445.4(PLEC):c.1486C>T (p.Gln496Ter) http://identifiers.org/clinvar/208947 ^@ NM_001267550.2(TTN):c.1051G>A (p.Val351Met) http://identifiers.org/clinvar/208865 ^@ NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) http://identifiers.org/clinvar/208941 ^@ NM_001287395.1(MROH2A):c.1961G>A (p.Arg654Gln) http://identifiers.org/clinvar/208942 ^@ NM_001287395.1(MROH2A):c.2844_2845insGG (p.Leu950Glyfs) http://identifiers.org/clinvar/208950 ^@ NM_001271643.1(THADA):c.2468C>T (p.Ser823Leu) http://identifiers.org/clinvar/208951 ^@ NM_001271643.1(THADA):c.362G>A (p.Arg121His) http://identifiers.org/clinvar/208920 ^@ NM_001134456.1(NXPE3):c.452_459delTCAAGCTG (p.Leu151Profs) http://identifiers.org/clinvar/208921 ^@ NM_001134456.1(NXPE3):c.462delG (p.Ala155Leufs) http://identifiers.org/clinvar/208922 ^@ NM_001134456.1(NXPE3):c.956G>C (p.Gly319Ala) http://identifiers.org/clinvar/208929 ^@ NM_017554.2(PARP14):c.1455T>A (p.Ser485Arg) http://identifiers.org/clinvar/208930 ^@ NM_017554.2(PARP14):c.2083C>A (p.Pro695Thr) http://identifiers.org/clinvar/208959 ^@ NM_001010938.1(TNK2):c.1966G>A (p.Val656Met) http://identifiers.org/clinvar/208960 ^@ NM_001010938.1(TNK2):c.955C>T (p.Arg319Cys) http://identifiers.org/clinvar/242556 ^@ NM_006514.3(SCN10A):c.2530C>T (p.Arg844Cys) http://identifiers.org/clinvar/242555 ^@ NM_006514.3(SCN10A):c.597G>T (p.Leu199=) http://identifiers.org/clinvar/208954 ^@ NM_001177387.1(ATXN7):c.211T>G (p.Ser71Ala) http://identifiers.org/clinvar/208955 ^@ NM_001177387.1(ATXN7):c.844G>A (p.Val282Met) http://identifiers.org/clinvar/208927 ^@ NM_018323.3(PI4K2B):c.10C>A (p.Pro4Thr) http://identifiers.org/clinvar/208928 ^@ NM_018323.3(PI4K2B):c.861G>T (p.Gln287His) http://identifiers.org/clinvar/208867 ^@ NM_006068.4(TLR6):c.1729_1730delAT (p.Met577Valfs) http://identifiers.org/clinvar/208873 ^@ NM_001024611.2(LRRC66):c.1823delG (p.Gly608Alafs) http://identifiers.org/clinvar/242554 ^@ NM_001447.2(FAT2):c.2773T>C (p.Cys925Arg) http://identifiers.org/clinvar/242553 ^@ NM_001447.2(FAT2):c.930T>G (p.Asn310Lys) http://identifiers.org/clinvar/208872 ^@ NM_033274.4(ADAM19):c.2563C>T (p.Pro855Ser) http://identifiers.org/clinvar/208968 ^@ NM_052909.3(PLEKHG4B):c.1567G>A (p.Glu523Lys) http://identifiers.org/clinvar/208969 ^@ NM_052909.3(PLEKHG4B):c.2762G>A (p.Arg921Gln) http://identifiers.org/clinvar/208874 ^@ NM_013235.4(DROSHA):c.755G>A (p.Arg252Gln) http://identifiers.org/clinvar/208938 ^@ NM_002116.7(HLA-A):c.383G>A (p.Gly128Glu) http://identifiers.org/clinvar/208939 ^@ NM_002116.7(HLA-A):c.658G>C (p.Asp220His) http://identifiers.org/clinvar/208956 ^@ NM_015687.4(FILIP1):c.3316G>C (p.Gly1106Arg) http://identifiers.org/clinvar/208957 ^@ NM_015687.4(FILIP1):c.1483A>G (p.Lys495Glu) http://identifiers.org/clinvar/208958 ^@ NM_015687.4(FILIP1):c.923C>T (p.Ser308Leu) http://identifiers.org/clinvar/242552 ^@ NM_005045.3(RELN):c.9427T>G (p.Tyr3143Asp) http://identifiers.org/clinvar/242551 ^@ NM_005045.3(RELN):c.2213G>A (p.Cys738Tyr) http://identifiers.org/clinvar/208971 ^@ NM_022444.3(SLC13A1):c.838A>G (p.Asn280Asp) http://identifiers.org/clinvar/208972 ^@ NM_022444.3(SLC13A1):c.277A>C (p.Ile93Leu) http://identifiers.org/clinvar/242550 ^@ NM_133436.3(ASNS):c.1439C>T (p.Ser480Phe) http://identifiers.org/clinvar/242549 ^@ NM_017890.4(VPS13B):c.3582delT (p.Thr1195Argfs) http://identifiers.org/clinvar/242548 ^@ NM_017890.4(VPS13B):c.6370_6371delAT (p.Met2124Valfs) http://identifiers.org/clinvar/208963 ^@ NM_001141917.1(FAM205A):c.3986A>C (p.Asn1329Thr) http://identifiers.org/clinvar/208964 ^@ NM_001141917.1(FAM205A):c.3619A>C (p.Thr1207Pro) http://identifiers.org/clinvar/208965 ^@ NM_001141917.1(FAM205A):c.2939A>T (p.Asn980Ile) http://identifiers.org/clinvar/208966 ^@ NM_001141917.1(FAM205A):c.2554G>A (p.Val852Ile) http://identifiers.org/clinvar/208967 ^@ NM_001141917.1(FAM205A):c.2452G>T (p.Val818Leu) http://identifiers.org/clinvar/208925 ^@ NM_001256876.1(KANK1):c.5delC (p.Ala2Valfs) http://identifiers.org/clinvar/208926 ^@ NM_001256876.1(KANK1):c.3992C>G (p.Ser1331Cys) http://identifiers.org/clinvar/208863 ^@ NM_018706.6(DHTKD1):c.2402+1G>C http://identifiers.org/clinvar/208923 ^@ NM_017551.2(GRID1):c.442C>T (p.Arg148Cys) http://identifiers.org/clinvar/208924 ^@ NM_017551.2(GRID1):c.437C>T (p.Pro146Leu) http://identifiers.org/clinvar/242547 ^@ NM_015959.3(TMX2):c.326A>G (p.Asp109Gly) http://identifiers.org/clinvar/242546 ^@ NM_015959.3(TMX2):c.691C>T (p.Arg231Trp) http://identifiers.org/clinvar/277675 ^@ NM_005371.5(METTL1):c.542T>C (p.Leu181Pro) http://identifiers.org/clinvar/208908 ^@ NM_005371.5(METTL1):c.542T>C (p.Leu181Pro) http://identifiers.org/clinvar/208862 ^@ NM_001376.4(DYNC1H1):c.1738G>A (p.Glu580Lys) http://identifiers.org/clinvar/208974 ^@ NM_138420.2(AHNAK2):c.5025G>C (p.Lys1675Asn) http://identifiers.org/clinvar/208975 ^@ NM_138420.2(AHNAK2):c.2695G>T (p.Val899Leu) http://identifiers.org/clinvar/208869 ^@ NM_001206670.1(PLA2G4E):c.1717A>G (p.Met573Val) http://identifiers.org/clinvar/208871 ^@ NM_032857.4(LACTB):c.46G>C (p.Gly16Arg) http://identifiers.org/clinvar/208861 ^@ NM_181877.3(ZSCAN2):c.152_153delCT (p.Pro51Argfs) http://identifiers.org/clinvar/242544 ^@ NM_032856.3(WDR73):c.333delG (p.Trp111Cysfs) http://identifiers.org/clinvar/242543 ^@ NM_032856.3(WDR73):c.293T>C (p.Leu98Pro) http://identifiers.org/clinvar/208931 ^@ NM_001308172.1(ACSM2A):c.72C>G (p.Tyr24Ter) http://identifiers.org/clinvar/208932 ^@ NM_001308172.1(ACSM2A):c.1414C>T (p.Arg472Trp) http://identifiers.org/clinvar/208866 ^@ NM_001033055.2(AIPL1):c.824C>A (p.Pro275His) http://identifiers.org/clinvar/208945 ^@ NM_001988.3(EVPL):c.4126G>T (p.Val1376Leu) http://identifiers.org/clinvar/208946 ^@ NM_001988.3(EVPL):c.314G>A (p.Arg105Gln) http://identifiers.org/clinvar/208909 ^@ NM_002918.4(RFX1):c.2695G>A (p.Gly899Ser) http://identifiers.org/clinvar/208948 ^@ NM_001252641.1(URI1):c.33C>A (p.His11Gln) http://identifiers.org/clinvar/208949 ^@ NM_001252641.1(URI1):c.644C>T (p.Thr215Ile) http://identifiers.org/clinvar/277674 ^@ NM_001083961.1(WDR62):c.2030T>C (p.Leu677Pro) http://identifiers.org/clinvar/208910 ^@ NM_001083961.1(WDR62):c.2030T>C (p.Leu677Pro) http://identifiers.org/clinvar/242540 ^@ NM_001083961.1(WDR62):c.2515C>T (p.Arg839Trp) http://identifiers.org/clinvar/242539 ^@ NM_001083961.1(WDR62):c.3304C>T (p.Gln1102Ter) http://identifiers.org/clinvar/208934 ^@ NM_022835.2(PLEKHG2):c.1230C>A (p.Phe410Leu) http://identifiers.org/clinvar/208935 ^@ NM_022835.2(PLEKHG2):c.4073T>C (p.Leu1358Ser) http://identifiers.org/clinvar/277673 ^@ NM_001828.5(CLC):c.389T>G (p.Ile130Ser) http://identifiers.org/clinvar/208912 ^@ NM_001828.5(CLC):c.389T>G (p.Ile130Ser) http://identifiers.org/clinvar/277672 ^@ NM_006484.2(DYRK1B):c.625G>A (p.Val209Ile) http://identifiers.org/clinvar/208913 ^@ NM_006484.2(DYRK1B):c.625G>A (p.Val209Ile) http://identifiers.org/clinvar/277671 ^@ NM_020160.2(MEIS3):c.202C>A (p.Leu68Ile) http://identifiers.org/clinvar/208914 ^@ NM_020160.2(MEIS3):c.202C>A (p.Leu68Ile) http://identifiers.org/clinvar/208868 ^@ NM_020719.2(PRR12):c.4397_4398insCCCTCA (p.Pro1467_Gln1468insHisPro) http://identifiers.org/clinvar/208943 ^@ NM_024690.2(MUC16):c.26366C>T (p.Pro8789Leu) http://identifiers.org/clinvar/208915 ^@ NM_024690.2(MUC16):c.26180C>T (p.Ala8727Val) http://identifiers.org/clinvar/208916 ^@ NM_024690.2(MUC16):c.10300T>C (p.Ser3434Pro) http://identifiers.org/clinvar/208917 ^@ NM_024690.2(MUC16):c.6979delT (p.Ser2327Profs) http://identifiers.org/clinvar/208918 ^@ NM_024690.2(MUC16):c.6955A>G (p.Ile2319Val) http://identifiers.org/clinvar/208944 ^@ NM_024690.2(MUC16):c.2500_2501delAG (p.Pro835Terfs) http://identifiers.org/clinvar/208864 ^@ NM_133170.3(PTPRT):c.4297C>T (p.Arg1433Cys) http://identifiers.org/clinvar/208936 ^@ NM_014246.1(CELSR1):c.7268C>T (p.Thr2423Met) http://identifiers.org/clinvar/208937 ^@ NM_014246.1(CELSR1):c.6224C>T (p.Ala2075Val) http://identifiers.org/clinvar/208887 ^@ NM_001256155.2(ARMCX4):c.574A>T (p.Thr192Ser) http://identifiers.org/clinvar/208893 ^@ NM_001011657.3(ZMAT1):c.1813C>T (p.Pro605Ser) http://identifiers.org/clinvar/208895 ^@ NM_001168399.1(BEX2):c.32G>A (p.Cys11Tyr) http://identifiers.org/clinvar/208902 ^@ NM_032428.1(FRMPD3):c.2603G>T (p.Arg868Leu) http://identifiers.org/clinvar/208897 ^@ NM_016024.2(RBMX2):c.860G>A (p.Arg287His) http://identifiers.org/clinvar/208888 ^@ NM_007131.4(ZNF75D):c.1100G>A (p.Cys367Tyr) http://identifiers.org/clinvar/208899 ^@ NM_080701.3(TREX2):c.259C>T (p.Arg87Ter) http://identifiers.org/clinvar/208878 ^@ NM_001110556.1(FLNA):c.7903G>A (p.Glu2635Lys) http://identifiers.org/clinvar/208885 ^@ NM_000292.2(PHKA2):c.2951T>C (p.Ile984Thr) http://identifiers.org/clinvar/208889 ^@ NM_015884.3(MBTPS2):c.1013A>T (p.His338Leu) http://identifiers.org/clinvar/208879 ^@ NM_003918.2(GYG2):c.433G>A (p.Asp145Asn) http://identifiers.org/clinvar/208903 ^@ NM_203408.3(FAM47A):c.1310C>T (p.Thr437Met) http://identifiers.org/clinvar/208884 ^@ NM_203408.3(FAM47A):c.127A>G (p.Met43Val) http://identifiers.org/clinvar/208880 ^@ NM_001304548.1(CFAP47):c.8311A>G (p.Met2771Val) http://identifiers.org/clinvar/208875 ^@ NM_007130.3(ZNF41):c.677A>T (p.His226Leu) http://identifiers.org/clinvar/208881 ^@ NM_033518.3(SLC38A5):c.806T>C (p.Phe269Ser) http://identifiers.org/clinvar/208904 ^@ NM_002536.3(TBC1D25):c.1145T>G (p.Leu382Arg) http://identifiers.org/clinvar/208882 ^@ NM_006044.3(HDAC6):c.1538G>A (p.Arg513His) http://identifiers.org/clinvar/208890 ^@ NM_005183.3(CACNA1F):c.1568G>A (p.Arg523His) http://identifiers.org/clinvar/208877 ^@ NM_001171192.1(GDPD2):c.395C>T (p.Ala132Val) http://identifiers.org/clinvar/208883 ^@ NM_021963.3(NAP1L2):c.508T>C (p.Ser170Pro) http://identifiers.org/clinvar/208900 ^@ NM_004650.2(PNPLA4):c.224G>A (p.Arg75Lys) http://identifiers.org/clinvar/208891 ^@ NM_053281.3(DACH2):c.1261C>T (p.Pro421Ser) http://identifiers.org/clinvar/208906 ^@ NM_004538.5(NAP1L3):c.1310C>G (p.Ala437Gly) http://identifiers.org/clinvar/208977 ^@ NM_000494.3(COL17A1):c.2816C>T (p.Thr939Ile) http://identifiers.org/clinvar/208978 ^@ NM_000494.3(COL17A1):c.3156C>T (p.Gly1052=) http://identifiers.org/clinvar/208979 ^@ LMNB2, TYR232HIS http://identifiers.org/clinvar/208980 ^@ NM_032737.3(LMNB2):c.469C>T (p.His157Tyr) http://identifiers.org/clinvar/208981 ^@ NC_000012.12:g.55845043_55851177[3] http://identifiers.org/clinvar/208982 ^@ NM_004287.4(GOSR2):c.491_493delAGA (p.Lys164del) http://identifiers.org/clinvar/208983 ^@ NM_001082486.1(ACD):c.508_510delAAG (p.Lys170del) http://identifiers.org/clinvar/208984 ^@ NM_001082486.1(ACD):c.1471C>A (p.Pro491Thr) http://identifiers.org/clinvar/208987 ^@ NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) http://identifiers.org/clinvar/208985 ^@ NM_000410.3(HFE):c.506G>A (p.Trp169Ter) http://identifiers.org/clinvar/208986 ^@ NP_055400.1(SLC40A1):p.Gln248His http://identifiers.org/clinvar/209005 ^@ NM_015512.4(DNAH1):c.3460A>C (p.Lys1154Gln) http://identifiers.org/clinvar/208992 ^@ NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter) http://identifiers.org/clinvar/209009 ^@ NM_001190787.1(MCIDAS):c.1142G>A (p.Arg381His) http://identifiers.org/clinvar/209008 ^@ NM_001190787.1(MCIDAS):c.1097G>A (p.Gly366Asp) http://identifiers.org/clinvar/209007 ^@ NM_001190787.1(MCIDAS):c.441C>A (p.Cys147Ter) http://identifiers.org/clinvar/209004 ^@ NM_021147.4(CCNO):c.716A>G (p.His239Arg) http://identifiers.org/clinvar/208994 ^@ NM_001010892.2(RSPH4A):c.166dupC (p.Arg56Profs) http://identifiers.org/clinvar/209010 ^@ NM_031924.5(RSPH3):c.631-2A>G http://identifiers.org/clinvar/209000 ^@ NM_172218.2(SPAG1):c.902_906delAAGTA (p.Lys301Thrfs) http://identifiers.org/clinvar/208996 ^@ NM_012472.5(LRRC6):c.630delG (p.Trp210Cysfs) http://identifiers.org/clinvar/208997 ^@ NM_018076.4(ARMC4):c.1669G>T (p.Glu557Ter) http://identifiers.org/clinvar/208993 ^@ NM_018139.2(DNAAF2):c.31delG (p.Glu11Argfs) http://identifiers.org/clinvar/209002 ^@ NM_021254.2(C21orf59):c.735C>G (p.Tyr245Ter) http://identifiers.org/clinvar/208999 ^@ NM_080860.3(RSPH1):c.727+5G>A (p.Ala244ValfsTer22) http://identifiers.org/clinvar/208998 ^@ NM_080860.3(RSPH1):c.366G>A (p.Arg122=) http://identifiers.org/clinvar/209003 ^@ NP_149115.2:p.Ile293ProfsTer2 http://identifiers.org/clinvar/209019 ^@ NM_001135244.1(TCOF1):c.-59G>A http://identifiers.org/clinvar/209021 ^@ NM_001135244.1(TCOF1):c.108+62_108+68del http://identifiers.org/clinvar/209024 ^@ NM_001135244.1(TCOF1):c.109-28T>C http://identifiers.org/clinvar/209035 ^@ NM_001135244.1(TCOF1):c.305-52A>G http://identifiers.org/clinvar/209036 ^@ NM_001135244.1(TCOF1):c.579G>A (p.Ala193=) http://identifiers.org/clinvar/209020 ^@ NM_001135244.1(TCOF1):c.1028G>A (p.Ser343Asn) http://identifiers.org/clinvar/209022 ^@ NM_001135244.1(TCOF1):c.1083+39G>A http://identifiers.org/clinvar/209023 ^@ NM_001135244.1(TCOF1):c.1086G>A (p.Ala362=) http://identifiers.org/clinvar/209025 ^@ NM_001135244.1(TCOF1):c.1242C>T (p.Ser414=) http://identifiers.org/clinvar/209026 ^@ NM_001135244.1(TCOF1):c.1278+60G>C http://identifiers.org/clinvar/209027 ^@ NM_001135244.1(TCOF1):c.1281G>A (p.Ala427=) http://identifiers.org/clinvar/209028 ^@ NM_001135244.1(TCOF1):c.1854G>A (p.Ala618=) http://identifiers.org/clinvar/209029 ^@ NM_001135244.1(TCOF1):c.1953T>C (p.Thr651=) http://identifiers.org/clinvar/209030 ^@ NM_001135244.1(TCOF1):c.2142+22C>T http://identifiers.org/clinvar/209031 ^@ NM_001135244.1(TCOF1):c.2762C>T (p.Pro921Leu) http://identifiers.org/clinvar/209032 ^@ NM_001135244.1(TCOF1):c.2859+26A>G http://identifiers.org/clinvar/209033 ^@ NM_001135244.1(TCOF1):c.2859+3303G>A http://identifiers.org/clinvar/209034 ^@ NM_001135244.1(TCOF1):c.2859+3389G>T http://identifiers.org/clinvar/209011 ^@ NM_000356.3(TCOF1):c.3297C>T (p.Pro1099=) http://identifiers.org/clinvar/209012 ^@ NM_000356.3(TCOF1):c.3369+64dupT http://identifiers.org/clinvar/209013 ^@ NM_000356.3(TCOF1):c.3550+8A>G http://identifiers.org/clinvar/209014 ^@ NM_000356.3(TCOF1):c.3711A>C (p.Ser1237=) http://identifiers.org/clinvar/209015 ^@ NM_000356.3(TCOF1):c.4064_4065delATinsGA (p.Asp1355Gly) http://identifiers.org/clinvar/209016 ^@ NM_000356.3(TCOF1):c.4146_4148delGAA (p.Lys1383del) http://identifiers.org/clinvar/209017 ^@ NM_000356.3(TCOF1):c.4209+106G>T http://identifiers.org/clinvar/209018 ^@ NM_000356.3(TCOF1):c.4209+108C>A http://identifiers.org/clinvar/209038 ^@ NM_006579.2(EBP):c.33C>A (p.Tyr11Ter) http://identifiers.org/clinvar/209039 ^@ NM_006579.2(EBP):c.224T>A (p.Ile75Asn) http://identifiers.org/clinvar/209040 ^@ NM_006579.2(EBP):c.139T>C (p.Trp47Arg) http://identifiers.org/clinvar/209041 ^@ NM_004177.4(STX3):c.122A>G (p.Glu41Gly) http://identifiers.org/clinvar/209042 ^@ NM_031885.3(BBS2):c.98C>A (p.Ala33Asp) http://identifiers.org/clinvar/209043 ^@ NM_031885.3(BBS2):c.401C>G (p.Pro134Arg) http://identifiers.org/clinvar/209059 ^@ NM_000492.3(CFTR):c.1117-1G>A http://identifiers.org/clinvar/242535 ^@ NM_000492.3(CFTR):c.1210-12[5] http://identifiers.org/clinvar/209061 ^@ NM_000492.3(CFTR):c.1365_1366delGG (p.Val456Cysfs) http://identifiers.org/clinvar/209066 ^@ NM_000492.3(CFTR):c.2053dupC (p.Gln685Profs) http://identifiers.org/clinvar/209046 ^@ NM_000492.3(CFTR):c.2423_2424dupAT (p.Ser809Ilefs) http://identifiers.org/clinvar/209044 ^@ NM_000492.3(CFTR):c.2462_2463delGT (p.Ser821Argfs) http://identifiers.org/clinvar/209045 ^@ NM_000492.3(CFTR):c.2658-1G>C http://identifiers.org/clinvar/209057 ^@ NM_000492.3(CFTR):c.3294G>A (p.Trp1098Ter) http://identifiers.org/clinvar/209056 ^@ NM_000492.3(CFTR):c.3747delG (p.Lys1250Argfs) http://identifiers.org/clinvar/209054 ^@ NM_000492.3(CFTR):c.3899dupT (p.Arg1301Terfs) http://identifiers.org/clinvar/209048 ^@ NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del http://identifiers.org/clinvar/209049 ^@ NM_000492.3(CFTR):c.(53+1_54-1)_(164+1_165-1)del http://identifiers.org/clinvar/209050 ^@ NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del http://identifiers.org/clinvar/209051 ^@ NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del http://identifiers.org/clinvar/209052 ^@ NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del http://identifiers.org/clinvar/209053 ^@ NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup http://identifiers.org/clinvar/209055 ^@ NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del http://identifiers.org/clinvar/209058 ^@ NM_000492.3(CFTR):c.(3468+1_3469-1)_(3717+1_3718-1)del http://identifiers.org/clinvar/209060 ^@ NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del http://identifiers.org/clinvar/209062 ^@ NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del http://identifiers.org/clinvar/209063 ^@ NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del http://identifiers.org/clinvar/209064 ^@ NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del http://identifiers.org/clinvar/209065 ^@ NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del http://identifiers.org/clinvar/209067 ^@ NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del http://identifiers.org/clinvar/209069 ^@ NM_001110556.1(FLNA):c.622G>C (p.Gly208Arg) http://identifiers.org/clinvar/209076 ^@ NM_001114636.1(FANCL):c.268delC (p.Leu90Phefs) http://identifiers.org/clinvar/209077 ^@ NM_001114636.1(FANCL):c.430delT (p.Ser144Leufs) http://identifiers.org/clinvar/209085 ^@ NM_173495.2(PTCHD1):c.2128delC (p.Leu710Cysfs) http://identifiers.org/clinvar/209086 ^@ NM_173495.2(PTCHD1):c.1796dupA (p.Asn599Lysfs) http://identifiers.org/clinvar/209087 ^@ NM_173495.2(PTCHD1):c.1444delC (p.Leu482Tyrfs) http://identifiers.org/clinvar/209088 ^@ NM_006767.3(LZTR1):c.742G>A (p.Gly248Arg) http://identifiers.org/clinvar/209089 ^@ NM_006767.3(LZTR1):c.850C>T (p.Arg284Cys) http://identifiers.org/clinvar/209090 ^@ NM_006767.3(LZTR1):c.740G>A (p.Ser247Asn) http://identifiers.org/clinvar/209091 ^@ NM_006939.3(SOS2):c.1127C>G (p.Thr376Ser) http://identifiers.org/clinvar/209092 ^@ NM_006939.3(SOS2):c.800T>A (p.Met267Lys) http://identifiers.org/clinvar/209093 ^@ NM_015450.2(POT1):c.283G>T (p.Gly95Cys) http://identifiers.org/clinvar/209094 ^@ NM_015450.2(POT1):c.1348G>T (p.Glu450Ter) http://identifiers.org/clinvar/209095 ^@ NM_015450.2(POT1):c.1851_1852delTA (p.Asp617Glufs) http://identifiers.org/clinvar/209096 ^@ NM_007348.3(ATF6):c.82+5G>T http://identifiers.org/clinvar/209097 ^@ NM_007348.3(ATF6):c.353delC (p.Pro118Leufs) http://identifiers.org/clinvar/209100 ^@ NM_007348.3(ATF6):c.797dupC (p.Asn267Terfs) http://identifiers.org/clinvar/209101 ^@ NM_007348.3(ATF6):c.1110dupA (p.Val371Serfs) http://identifiers.org/clinvar/209098 ^@ NM_007348.3(ATF6):c.1187+5G>C http://identifiers.org/clinvar/209099 ^@ NM_007348.3(ATF6):c.1533+1G>C http://identifiers.org/clinvar/209103 ^@ NM_000157.3(GBA):c.1440G>C (p.Lys480Asn) http://identifiers.org/clinvar/209104 ^@ NM_000157.3(GBA):c.1277C>T (p.Pro426Leu) http://identifiers.org/clinvar/209102 ^@ NM_000157.3(GBA):c.221G>C (p.Gly74Ala) http://identifiers.org/clinvar/209106 ^@ NM_001753.4(CAV1):c.424C>T (p.Gln142Ter) http://identifiers.org/clinvar/209107 ^@ NM_001376.4(DYNC1H1):c.926G>A (p.Arg309His) http://identifiers.org/clinvar/209108 ^@ NM_001376.4(DYNC1H1):c.1706G>C (p.Arg569Pro) http://identifiers.org/clinvar/209105 ^@ NM_007294.3(BRCA1):c.594_597delTGTG (p.Ser198Argfs) http://identifiers.org/clinvar/209109 ^@ NC_000023.10:g.71681853_72434328del752476 http://identifiers.org/clinvar/209110 ^@ NM_006280.2(SSR4):c.316delT (p.Phe106Serfs) http://identifiers.org/clinvar/209111 ^@ NM_001830.3(CLCN4):c.635T>G (p.Val212Gly) http://identifiers.org/clinvar/209112 ^@ NM_001830.3(CLCN4):c.662T>C (p.Leu221Pro) http://identifiers.org/clinvar/209113 ^@ NM_001830.3(CLCN4):c.1601C>T (p.Ser534Leu) http://identifiers.org/clinvar/209114 ^@ NC_000023.10:g.(10182428_10187807)_(10189796_10201480)del http://identifiers.org/clinvar/209115 ^@ NM_001830.3(CLCN4):c.1664C>T (p.Ala555Val) http://identifiers.org/clinvar/209116 ^@ NM_001830.3(CLCN4):c.2152C>T (p.Arg718Trp) http://identifiers.org/clinvar/209117 ^@ NM_001830.3(CLCN4):c.823G>A (p.Val275Met) http://identifiers.org/clinvar/209118 ^@ NM_001830.3(CLCN4):c.1876dupA (p.Ile626Asnfs) http://identifiers.org/clinvar/209127 ^@ NM_004168.3(SDHA):c.223C>T (p.Arg75Ter) http://identifiers.org/clinvar/209128 ^@ NM_000933.3(PLCB4):c.986A>C (p.Asn329Thr) http://identifiers.org/clinvar/209177 ^@ NM_001012331.1(NTRK1):c.360-2A>C http://identifiers.org/clinvar/209178 ^@ NM_001012331.1(NTRK1):c.1040G>C (p.Arg347Pro) http://identifiers.org/clinvar/209136 ^@ NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg) http://identifiers.org/clinvar/209135 ^@ NM_022089.3(ATP13A2):c.348-9_351del http://identifiers.org/clinvar/209137 ^@ NM_000069.2(CACNA1S):c.3526-2A>G http://identifiers.org/clinvar/209203 ^@ NM_206933.2(USH2A):c.10342G>A (p.Glu3448Lys) http://identifiers.org/clinvar/209202 ^@ NM_206933.2(USH2A):c.6670G>T (p.Gly2224Cys) http://identifiers.org/clinvar/209161 ^@ NM_005529.6(HSPG2):c.2357A>G (p.Asn786Ser) http://identifiers.org/clinvar/209146 ^@ NM_025000.3(DCAF17):c.436delC (p.Ala147Hisfs) http://identifiers.org/clinvar/209147 ^@ NM_001039550.1(DNAJB2):c.343G>T (p.Glu115Ter) http://identifiers.org/clinvar/209165 ^@ NM_004321.7(KIF1A):c.38G>A (p.Arg13His) http://identifiers.org/clinvar/209184 ^@ NM_033109.4(PNPT1):c.1592C>G (p.Thr531Arg) http://identifiers.org/clinvar/209185 ^@ NM_033109.4(PNPT1):c.1525G>A (p.Val509Ile) http://identifiers.org/clinvar/209144 ^@ NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg) http://identifiers.org/clinvar/209199 ^@ NM_016381.5(TREX1):c.377_378delTG (p.Val126Glyfs) http://identifiers.org/clinvar/209198 ^@ NM_033629.4(TREX1):c.340C>T (p.Arg114Cys) http://identifiers.org/clinvar/209186 ^@ NM_198859.3(PRICKLE2):c.380delG (p.Gly127Glufs) http://identifiers.org/clinvar/209149 ^@ NM_173660.4(DOK7):c.1138dupG (p.Ala380Glyfs) http://identifiers.org/clinvar/209148 ^@ NM_173660.4(DOK7):c.1476_1485dupTCCAGTCTGT (p.Gly496Serfs) http://identifiers.org/clinvar/209206 ^@ NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) http://identifiers.org/clinvar/209207 ^@ NM_006005.3(WFS1):c.2648_2651delTCTT (p.Phe883Serfs) http://identifiers.org/clinvar/209132 ^@ NM_058172.5(ANTXR2):c.1305delC (p.Thr436Hisfs) http://identifiers.org/clinvar/209133 ^@ NM_058172.5(ANTXR2):c.241T>C (p.Ser81Pro) http://identifiers.org/clinvar/209175 ^@ NM_022455.4(NSD1):c.5950C>T (p.Arg1984Ter) http://identifiers.org/clinvar/209176 ^@ NM_022455.4(NSD1):c.7966C>T (p.Gln2656Ter) http://identifiers.org/clinvar/209182 ^@ NM_181523.2(PIK3R1):c.1460T>C (p.Phe487Ser) http://identifiers.org/clinvar/209171 ^@ NM_002397.4(MEF2C):c.68A>G (p.Lys23Arg) http://identifiers.org/clinvar/209196 ^@ NM_019105.6(TNXB):c.9655G>A (p.Val3219Met) http://identifiers.org/clinvar/209197 ^@ NM_019105.6(TNXB):c.9631A>G (p.Arg3211Gly) http://identifiers.org/clinvar/209153 ^@ NM_012160.4(FBXL4):c.64C>T (p.Arg22Ter) http://identifiers.org/clinvar/209130 ^@ NM_018238.3(AGK):c.409C>T (p.Arg137Ter) http://identifiers.org/clinvar/209129 ^@ NM_018238.3(AGK):c.424-3C>G http://identifiers.org/clinvar/209138 ^@ NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) http://identifiers.org/clinvar/209139 ^@ NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) http://identifiers.org/clinvar/209157 ^@ NM_002047.3(GARS):c.1904C>T (p.Ser635Leu) http://identifiers.org/clinvar/209170 ^@ NM_001145715.2(KPNA7):c.1046T>C (p.Leu349Pro) http://identifiers.org/clinvar/209169 ^@ NM_001145715.2(KPNA7):c.106C>T (p.Arg36Ter) http://identifiers.org/clinvar/209189 ^@ NM_015046.5(SETX):c.6038T>G (p.Val2013Gly) http://identifiers.org/clinvar/209188 ^@ NM_015046.5(SETX):c.5821_5830delGCAATAGAAA (p.Ala1941Leufs) http://identifiers.org/clinvar/209143 ^@ NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) http://identifiers.org/clinvar/209159 ^@ NM_007327.3(GRIN1):c.1858G>C (p.Gly620Arg) http://identifiers.org/clinvar/209152 ^@ NM_024757.4(EHMT1):c.391delG (p.Ala131Profs) http://identifiers.org/clinvar/209190 ^@ NM_005866.3(SIGMAR1):c.283dupC (p.Leu95Profs) http://identifiers.org/clinvar/209194 ^@ NM_006415.3(SPTLC1):c.1072G>C (p.Glu358Gln) http://identifiers.org/clinvar/209193 ^@ NM_005445.3(SMC3):c.587T>C (p.Ile196Thr) http://identifiers.org/clinvar/209187 ^@ NM_000314.6(PTEN):c.1048dupA (p.Thr350Asnfs) http://identifiers.org/clinvar/209134 ^@ NM_000051.3(ATM):c.6049dupA (p.Ser2017Lysfs) http://identifiers.org/clinvar/209168 ^@ NM_001197104.1(KMT2A):c.5494C>A (p.Pro1832Thr) http://identifiers.org/clinvar/209172 ^@ NM_031433.3(MFRP):c.958C>T (p.Gln320Ter) http://identifiers.org/clinvar/209181 ^@ NM_004813.2(PEX16):c.995_997delTCT (p.Phe332del) http://identifiers.org/clinvar/209209 ^@ NM_001040436.2(YARS2):c.751A>G (p.Ile251Val) http://identifiers.org/clinvar/209208 ^@ NM_001040436.2(YARS2):c.359dupG (p.Asp121Argfs) http://identifiers.org/clinvar/209200 ^@ NM_006009.3(TUBA1A):c.1224C>A (p.Tyr408Ter) http://identifiers.org/clinvar/209141 ^@ NM_001845.5(COL4A1):c.2662G>A (p.Gly888Arg) http://identifiers.org/clinvar/209179 ^@ NM_025152.2(NUBPL):c.311T>C (p.Leu104Pro) http://identifiers.org/clinvar/209210 ^@ NM_015346.3(ZFYVE26):c.4181G>A (p.Trp1394Ter) http://identifiers.org/clinvar/209204 ^@ NM_003384.2(VRK1):c.356A>G (p.His119Arg) http://identifiers.org/clinvar/209205 ^@ NM_003384.2(VRK1):c.961C>T (p.Arg321Cys) http://identifiers.org/clinvar/209156 ^@ NM_000814.5(GABRB3):c.695G>C (p.Arg232Pro) http://identifiers.org/clinvar/209160 ^@ NM_000520.5(HEXA):c.806-7G>A http://identifiers.org/clinvar/209145 ^@ NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val) http://identifiers.org/clinvar/209191 ^@ NM_000339.2(SLC12A3):c.815T>C (p.Leu272Pro) http://identifiers.org/clinvar/209131 ^@ NM_013275.5(ANKRD11):c.2398_2401delGAAA (p.Glu800Asnfs) http://identifiers.org/clinvar/209180 ^@ NM_000430.3(PAFAH1B1):c.523A>T (p.Lys175Ter) http://identifiers.org/clinvar/209164 ^@ NM_001193466.1(KANSL1):c.3125delT (p.Leu1042Argfs) http://identifiers.org/clinvar/209162 ^@ NM_002204.3(ITGA3):c.1973C>G (p.Thr658Arg) http://identifiers.org/clinvar/209163 ^@ NM_002204.3(ITGA3):c.2070+1G>A http://identifiers.org/clinvar/209140 ^@ NM_000088.3(COL1A1):c.2866G>A (p.Gly956Arg) http://identifiers.org/clinvar/209166 ^@ NM_006612.5(KIF1C):c.2099C>T (p.Pro700Leu) http://identifiers.org/clinvar/209167 ^@ NM_006612.5(KIF1C):c.2734C>T (p.Arg912Trp) http://identifiers.org/clinvar/209195 ^@ NM_001083962.1(TCF4):c.1069+1G>T http://identifiers.org/clinvar/209174 ^@ NM_002501.3(NFIX):c.338_342dupAGATC (p.Arg116Serfs) http://identifiers.org/clinvar/209201 ^@ NM_006087.3(TUBB4A):c.1164G>C (p.Met388Ile) http://identifiers.org/clinvar/209158 ^@ NM_000516.5(GNAS):c.34C>T (p.Gln12Ter) http://identifiers.org/clinvar/209151 ^@ NM_001396.4(DYRK1A):c.1162dupG (p.Ala388Glyfs) http://identifiers.org/clinvar/209150 ^@ NM_001396.3(DYRK1A):c.1400G>A (p.Arg467Gln) http://identifiers.org/clinvar/209155 ^@ NM_006657.2(FTCD):c.1358C>T (p.Thr453Met) http://identifiers.org/clinvar/209183 ^@ NM_000533.4(PLP1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/209142 ^@ NM_000495.4(COL4A5):c.3998-1G>A http://identifiers.org/clinvar/209154 ^@ NM_001456.3(FLNA):c.4726G>A (p.Gly1576Arg) http://identifiers.org/clinvar/209192 ^@ NM_006306.3(SMC1A):c.2547delA (p.Ile849Metfs) http://identifiers.org/clinvar/209173 ^@ NC_012920.1:m.14597A>G http://identifiers.org/clinvar/209211 ^@ NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del http://identifiers.org/clinvar/209212 ^@ NC_012920.1:m.5782_13922del8141 http://identifiers.org/clinvar/209213 ^@ NC_012920.1:m.5794_14876del9083 http://identifiers.org/clinvar/209214 ^@ NC_000015.9:g.(?_23730704)_(28530182_?)del http://identifiers.org/clinvar/209215 ^@ NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del http://identifiers.org/clinvar/209597 ^@ NM_000059.3(BRCA2):c.-764A>G http://identifiers.org/clinvar/209598 ^@ NM_000059.3(BRCA2):c.-481G>A http://identifiers.org/clinvar/209599 ^@ NM_000059.3(BRCA2):c.-175C>T http://identifiers.org/clinvar/209600 ^@ NM_000059.3(BRCA2):c.-52A>G http://identifiers.org/clinvar/209930 ^@ NM_000059.3(BRCA2):c.-40+164G>A http://identifiers.org/clinvar/209601 ^@ NM_000059.3(BRCA2):c.-40+222C>T http://identifiers.org/clinvar/209602 ^@ NM_000059.3(BRCA2):c.-40+360G>A http://identifiers.org/clinvar/209603 ^@ NM_000059.3(BRCA2):c.-39-332G>T http://identifiers.org/clinvar/209604 ^@ NM_000059.3(BRCA2):c.67+326G>C http://identifiers.org/clinvar/209605 ^@ NM_000059.3(BRCA2):c.67+641T>C http://identifiers.org/clinvar/209606 ^@ NM_000059.3(BRCA2):c.67+788_67+791del http://identifiers.org/clinvar/209607 ^@ NM_000059.3(BRCA2):c.67+1042A>G http://identifiers.org/clinvar/209608 ^@ NM_000059.3(BRCA2):c.67+1102T>C http://identifiers.org/clinvar/209609 ^@ NM_000059.3(BRCA2):c.67+1134T>C http://identifiers.org/clinvar/209610 ^@ NM_000059.3(BRCA2):c.67+1224dupT http://identifiers.org/clinvar/209611 ^@ NM_000059.3(BRCA2):c.67+1266C>T http://identifiers.org/clinvar/209931 ^@ NM_000059.3(BRCA2):c.68-997C>T http://identifiers.org/clinvar/209612 ^@ NM_000059.3(BRCA2):c.68-973_68-971del http://identifiers.org/clinvar/209613 ^@ NM_000059.3(BRCA2):c.68-545C>T http://identifiers.org/clinvar/209614 ^@ NM_000059.3(BRCA2):c.68-520G>T http://identifiers.org/clinvar/209932 ^@ NM_000059.3(BRCA2):c.68-479T>C http://identifiers.org/clinvar/209615 ^@ NM_000059.3(BRCA2):c.68-454A>C http://identifiers.org/clinvar/209616 ^@ NM_000059.3(BRCA2):c.68-394T>C http://identifiers.org/clinvar/209617 ^@ NM_000059.3(BRCA2):c.68-339G>A http://identifiers.org/clinvar/209618 ^@ NM_000059.3(BRCA2):c.68-329G>A http://identifiers.org/clinvar/209619 ^@ NM_000059.3(BRCA2):c.316+262G>A http://identifiers.org/clinvar/209933 ^@ NM_000059.3(BRCA2):c.316+329A>G http://identifiers.org/clinvar/209620 ^@ NM_000059.3(BRCA2):c.316+361A>G http://identifiers.org/clinvar/209621 ^@ NM_000059.3(BRCA2):c.316+446A>G http://identifiers.org/clinvar/209622 ^@ NM_000059.3(BRCA2):c.316+860G>A http://identifiers.org/clinvar/209623 ^@ NM_000059.3(BRCA2):c.316+1022G>A http://identifiers.org/clinvar/209624 ^@ NM_000059.3(BRCA2):c.316+1276G>A http://identifiers.org/clinvar/209625 ^@ NM_000059.3(BRCA2):c.316+1343A>T http://identifiers.org/clinvar/209626 ^@ NM_000059.3(BRCA2):c.316+1403T>C http://identifiers.org/clinvar/209627 ^@ NM_000059.3(BRCA2):c.316+1482G>A http://identifiers.org/clinvar/209628 ^@ NM_000059.3(BRCA2):c.316+1515C>T http://identifiers.org/clinvar/209934 ^@ NM_000059.3(BRCA2):c.316+1915G>C http://identifiers.org/clinvar/209629 ^@ NM_000059.3(BRCA2):c.316+1919T>C http://identifiers.org/clinvar/209630 ^@ NM_000059.3(BRCA2):c.316+2212C>T http://identifiers.org/clinvar/209631 ^@ NM_000059.3(BRCA2):c.316+2611T>C http://identifiers.org/clinvar/209632 ^@ NM_000059.3(BRCA2):c.316+2827C>T http://identifiers.org/clinvar/209633 ^@ NM_000059.3(BRCA2):c.317-2537G>A http://identifiers.org/clinvar/209634 ^@ NM_000059.3(BRCA2):c.317-2491C>T http://identifiers.org/clinvar/209635 ^@ NM_000059.3(BRCA2):c.317-2367G>A http://identifiers.org/clinvar/209636 ^@ NM_000059.3(BRCA2):c.317-2070A>G http://identifiers.org/clinvar/209637 ^@ NM_000059.3(BRCA2):c.317-1875G>A http://identifiers.org/clinvar/209638 ^@ NM_000059.3(BRCA2):c.317-1671G>A http://identifiers.org/clinvar/209639 ^@ NM_000059.3(BRCA2):c.317-975G>A http://identifiers.org/clinvar/209640 ^@ NM_000059.3(BRCA2):c.317-579G>A http://identifiers.org/clinvar/209641 ^@ NM_000059.3(BRCA2):c.317-383A>G http://identifiers.org/clinvar/209642 ^@ NM_000059.3(BRCA2):c.425+123C>T http://identifiers.org/clinvar/209643 ^@ NM_000059.3(BRCA2):c.425+147G>T http://identifiers.org/clinvar/209644 ^@ NM_000059.3(BRCA2):c.425+246G>C http://identifiers.org/clinvar/209645 ^@ NM_000059.3(BRCA2):c.425+277_425+280del http://identifiers.org/clinvar/209646 ^@ NM_000059.3(BRCA2):c.426-400C>T http://identifiers.org/clinvar/209647 ^@ NM_000059.3(BRCA2):c.426-391T>G http://identifiers.org/clinvar/209935 ^@ NM_000059.3(BRCA2):c.426-360C>T http://identifiers.org/clinvar/209648 ^@ NM_000059.3(BRCA2):c.426-351T>C http://identifiers.org/clinvar/209649 ^@ NM_000059.3(BRCA2):c.426-339G>A http://identifiers.org/clinvar/209650 ^@ NM_000059.3(BRCA2):c.426-336T>C http://identifiers.org/clinvar/209651 ^@ NM_000059.3(BRCA2):c.426-232C>T http://identifiers.org/clinvar/209652 ^@ NM_000059.3(BRCA2):c.631+183T>A http://identifiers.org/clinvar/209653 ^@ NM_000059.3(BRCA2):c.631+541T>C http://identifiers.org/clinvar/209654 ^@ NM_000059.3(BRCA2):c.631+679_631+680insC http://identifiers.org/clinvar/209655 ^@ NM_000059.3(BRCA2):c.631+680A>C http://identifiers.org/clinvar/209656 ^@ NM_000059.3(BRCA2):c.631+981C>T http://identifiers.org/clinvar/209657 ^@ NM_000059.3(BRCA2):c.631+1317A>G http://identifiers.org/clinvar/209658 ^@ NM_000059.3(BRCA2):c.631+1330T>C http://identifiers.org/clinvar/209659 ^@ NM_000059.3(BRCA2):c.632-1186T>C http://identifiers.org/clinvar/209660 ^@ NM_000059.3(BRCA2):c.632-1133C>T http://identifiers.org/clinvar/209661 ^@ NM_000059.3(BRCA2):c.632-803G>A http://identifiers.org/clinvar/209662 ^@ NM_000059.3(BRCA2):c.632-771A>T http://identifiers.org/clinvar/209663 ^@ NM_000059.3(BRCA2):c.681+195T>G http://identifiers.org/clinvar/209664 ^@ NM_000059.3(BRCA2):c.681+209C>T http://identifiers.org/clinvar/209665 ^@ NM_000059.3(BRCA2):c.681+298T>A http://identifiers.org/clinvar/209666 ^@ NM_000059.3(BRCA2):c.681+670A>G http://identifiers.org/clinvar/209667 ^@ NM_000059.3(BRCA2):c.682-262dupT http://identifiers.org/clinvar/209936 ^@ NM_000059.3(BRCA2):c.793+98G>A http://identifiers.org/clinvar/209668 ^@ NM_000059.3(BRCA2):c.793+105C>T http://identifiers.org/clinvar/209669 ^@ NM_000059.3(BRCA2):c.793+401G>T http://identifiers.org/clinvar/209670 ^@ NM_000059.3(BRCA2):c.793+461C>A http://identifiers.org/clinvar/209671 ^@ NM_000059.3(BRCA2):c.794-494T>C http://identifiers.org/clinvar/209672 ^@ NM_000059.3(BRCA2):c.794-411A>G http://identifiers.org/clinvar/209673 ^@ NM_000059.3(BRCA2):c.794-172G>C http://identifiers.org/clinvar/209674 ^@ NM_000059.3(BRCA2):c.1909+92_1909+96del http://identifiers.org/clinvar/209675 ^@ NM_000059.3(BRCA2):c.1909+243C>T http://identifiers.org/clinvar/209676 ^@ NM_000059.3(BRCA2):c.1909+332A>G http://identifiers.org/clinvar/209937 ^@ NM_000059.3(BRCA2):c.1909+582A>G http://identifiers.org/clinvar/209677 ^@ NM_000059.3(BRCA2):c.1909+823C>T http://identifiers.org/clinvar/209678 ^@ NM_000059.3(BRCA2):c.1909+1105A>G http://identifiers.org/clinvar/209679 ^@ NM_000059.3(BRCA2):c.1909+1301del http://identifiers.org/clinvar/209680 ^@ NM_000059.3(BRCA2):c.1910-1124_1910-1121del http://identifiers.org/clinvar/209681 ^@ NM_000059.3(BRCA2):c.1910-952C>T http://identifiers.org/clinvar/209682 ^@ NM_000059.3(BRCA2):c.1910-787G>C http://identifiers.org/clinvar/209683 ^@ NM_000059.3(BRCA2):c.1910-542T>C http://identifiers.org/clinvar/209684 ^@ NM_000059.3(BRCA2):c.1910-436del http://identifiers.org/clinvar/209685 ^@ NM_000059.3(BRCA2):c.1910-346T>G http://identifiers.org/clinvar/209686 ^@ NM_000059.3(BRCA2):c.1910-300T>C http://identifiers.org/clinvar/209687 ^@ NM_000059.3(BRCA2):c.1910-74T>C http://identifiers.org/clinvar/209688 ^@ NM_000059.3(BRCA2):c.1910-51G>T http://identifiers.org/clinvar/209689 ^@ NM_000059.3(BRCA2):c.1910-43T>C http://identifiers.org/clinvar/209216 ^@ NM_000059.3(BRCA2):c.3156A>C (p.Ala1052=) http://identifiers.org/clinvar/209217 ^@ NM_000059.3(BRCA2):c.3793T>A (p.Cys1265Ser) http://identifiers.org/clinvar/209218 ^@ NM_000059.3(BRCA2):c.4609G>A (p.Glu1537Lys) http://identifiers.org/clinvar/209691 ^@ NM_000059.3(BRCA2):c.6841+191C>A http://identifiers.org/clinvar/209692 ^@ NM_000059.3(BRCA2):c.6841+225T>C http://identifiers.org/clinvar/209693 ^@ NM_000059.3(BRCA2):c.6841+473A>G http://identifiers.org/clinvar/209694 ^@ NM_000059.3(BRCA2):c.6841+640C>G http://identifiers.org/clinvar/209695 ^@ NM_000059.3(BRCA2):c.6841+964C>A http://identifiers.org/clinvar/209696 ^@ NM_000059.3(BRCA2):c.6841+1029A>G http://identifiers.org/clinvar/209697 ^@ NM_000059.3(BRCA2):c.6841+1037A>T http://identifiers.org/clinvar/209698 ^@ NM_000059.3(BRCA2):c.6841+1344G>T http://identifiers.org/clinvar/209699 ^@ NM_000059.3(BRCA2):c.6841+1456A>G http://identifiers.org/clinvar/209700 ^@ NM_000059.3(BRCA2):c.6842-1559A>G http://identifiers.org/clinvar/209701 ^@ NM_000059.3(BRCA2):c.6842-1351T>C http://identifiers.org/clinvar/209702 ^@ NM_000059.3(BRCA2):c.6842-473A>G http://identifiers.org/clinvar/209703 ^@ NM_000059.3(BRCA2):c.6842-214T>A http://identifiers.org/clinvar/209704 ^@ NM_000059.3(BRCA2):c.6937+151A>G http://identifiers.org/clinvar/209705 ^@ NM_000059.3(BRCA2):c.6937+177G>A http://identifiers.org/clinvar/209706 ^@ NM_000059.3(BRCA2):c.6937+440C>T http://identifiers.org/clinvar/209707 ^@ NM_000059.3(BRCA2):c.6937+736A>T http://identifiers.org/clinvar/209708 ^@ NM_000059.3(BRCA2):c.6937+847T>G http://identifiers.org/clinvar/209709 ^@ NM_000059.3(BRCA2):c.6937+978A>T http://identifiers.org/clinvar/209938 ^@ NM_000059.3(BRCA2):c.6938-948G>A http://identifiers.org/clinvar/209710 ^@ NM_000059.3(BRCA2):c.6938-843C>T http://identifiers.org/clinvar/209711 ^@ NM_000059.3(BRCA2):c.6938-642dupT http://identifiers.org/clinvar/209712 ^@ NM_000059.3(BRCA2):c.6938-624G>T http://identifiers.org/clinvar/209713 ^@ NM_000059.3(BRCA2):c.6938-515G>C http://identifiers.org/clinvar/209714 ^@ NM_000059.3(BRCA2):c.6938-346G>A http://identifiers.org/clinvar/209715 ^@ NM_000059.3(BRCA2):c.6938-313C>T http://identifiers.org/clinvar/209939 ^@ NM_000059.3(BRCA2):c.6938-120T>C http://identifiers.org/clinvar/209717 ^@ NM_000059.3(BRCA2):c.7007+157C>T http://identifiers.org/clinvar/209718 ^@ NM_000059.3(BRCA2):c.7007+273G>A http://identifiers.org/clinvar/209719 ^@ NM_000059.3(BRCA2):c.7007+329T>C http://identifiers.org/clinvar/209720 ^@ NM_000059.3(BRCA2):c.7007+503A>G http://identifiers.org/clinvar/209721 ^@ NM_000059.3(BRCA2):c.7007+688G>A http://identifiers.org/clinvar/209722 ^@ NM_000059.3(BRCA2):c.7007+905A>G http://identifiers.org/clinvar/209723 ^@ NM_000059.3(BRCA2):c.7007+911A>G http://identifiers.org/clinvar/209724 ^@ NM_000059.3(BRCA2):c.7007+1103C>T http://identifiers.org/clinvar/209725 ^@ NM_000059.3(BRCA2):c.7007+1153dupA http://identifiers.org/clinvar/209726 ^@ NM_000059.3(BRCA2):c.7007+1171_7007+1173del http://identifiers.org/clinvar/209727 ^@ NM_000059.3(BRCA2):c.7007+1298A>C http://identifiers.org/clinvar/209728 ^@ NM_000059.3(BRCA2):c.7007+2097G>T http://identifiers.org/clinvar/209729 ^@ NM_000059.3(BRCA2):c.7007+2427dupA http://identifiers.org/clinvar/209730 ^@ NM_000059.3(BRCA2):c.7007+2427_7007+2428insC http://identifiers.org/clinvar/209731 ^@ NM_000059.3(BRCA2):c.7007+2428A>C http://identifiers.org/clinvar/209732 ^@ NM_000059.3(BRCA2):c.7007+2532G>A http://identifiers.org/clinvar/209733 ^@ NM_000059.3(BRCA2):c.7007+2657C>T http://identifiers.org/clinvar/209734 ^@ NM_000059.3(BRCA2):c.7007+2777C>T http://identifiers.org/clinvar/209735 ^@ NM_000059.3(BRCA2):c.7007+2955A>G http://identifiers.org/clinvar/209736 ^@ NM_000059.3(BRCA2):c.7007+3159A>G http://identifiers.org/clinvar/209737 ^@ NM_000059.3(BRCA2):c.7007+3614G>C http://identifiers.org/clinvar/209738 ^@ NM_000059.3(BRCA2):c.7007+3851C>T http://identifiers.org/clinvar/209739 ^@ NM_000059.3(BRCA2):c.7007+3936C>T http://identifiers.org/clinvar/209740 ^@ NM_000059.3(BRCA2):c.7008-3741C>A http://identifiers.org/clinvar/209741 ^@ NM_000059.3(BRCA2):c.7008-3523T>C http://identifiers.org/clinvar/209742 ^@ NM_000059.3(BRCA2):c.7008-3078_7008-3077insATTTT http://identifiers.org/clinvar/209743 ^@ NM_000059.3(BRCA2):c.7008-2952C>G http://identifiers.org/clinvar/209744 ^@ NM_000059.3(BRCA2):c.7008-2344T>G http://identifiers.org/clinvar/209745 ^@ NM_000059.3(BRCA2):c.7008-2337C>T http://identifiers.org/clinvar/209746 ^@ NM_000059.3(BRCA2):c.7008-2054A>G http://identifiers.org/clinvar/209747 ^@ NM_000059.3(BRCA2):c.7008-1981G>A http://identifiers.org/clinvar/209749 ^@ NM_000059.3(BRCA2):c.7008-1393_7008-1392del http://identifiers.org/clinvar/209750 ^@ NM_000059.3(BRCA2):c.7008-1259T>C http://identifiers.org/clinvar/209751 ^@ NM_000059.3(BRCA2):c.7008-1104C>T http://identifiers.org/clinvar/209752 ^@ NM_000059.3(BRCA2):c.7008-886G>A http://identifiers.org/clinvar/209753 ^@ NM_000059.3(BRCA2):c.7008-796A>G http://identifiers.org/clinvar/209940 ^@ NM_000059.3(BRCA2):c.7008-681T>C http://identifiers.org/clinvar/209754 ^@ NM_000059.3(BRCA2):c.7008-594T>C http://identifiers.org/clinvar/209941 ^@ NM_000059.3(BRCA2):c.7008-590G>A http://identifiers.org/clinvar/209755 ^@ NM_000059.3(BRCA2):c.7436-191T>A http://identifiers.org/clinvar/209756 ^@ NM_000059.3(BRCA2):c.7436-131C>T http://identifiers.org/clinvar/209757 ^@ NM_000059.3(BRCA2):c.7617+148G>A http://identifiers.org/clinvar/209758 ^@ NM_000059.3(BRCA2):c.7617+549G>A http://identifiers.org/clinvar/209759 ^@ NM_000059.3(BRCA2):c.7618-250G>A http://identifiers.org/clinvar/209760 ^@ NM_000059.3(BRCA2):c.7805+539C>G http://identifiers.org/clinvar/209761 ^@ NM_000059.3(BRCA2):c.7805+671T>C http://identifiers.org/clinvar/209762 ^@ NM_000059.3(BRCA2):c.7805+926G>T http://identifiers.org/clinvar/209763 ^@ NM_000059.3(BRCA2):c.7805+956G>T http://identifiers.org/clinvar/209764 ^@ NM_000059.3(BRCA2):c.7805+1373A>G http://identifiers.org/clinvar/209765 ^@ NM_000059.3(BRCA2):c.7805+1860A>G http://identifiers.org/clinvar/209942 ^@ NM_000059.3(BRCA2):c.7805+1871A>G http://identifiers.org/clinvar/209766 ^@ NM_000059.3(BRCA2):c.7806-2229G>A http://identifiers.org/clinvar/209767 ^@ NM_000059.3(BRCA2):c.7806-2150T>A http://identifiers.org/clinvar/209768 ^@ NM_000059.3(BRCA2):c.7806-2105G>A http://identifiers.org/clinvar/209769 ^@ NM_000059.3(BRCA2):c.7806-2002G>A http://identifiers.org/clinvar/209770 ^@ NM_000059.3(BRCA2):c.7806-1749G>A http://identifiers.org/clinvar/209771 ^@ NM_000059.3(BRCA2):c.7806-1650C>T http://identifiers.org/clinvar/209772 ^@ NM_000059.3(BRCA2):c.7806-1254T>C http://identifiers.org/clinvar/209773 ^@ NM_000059.3(BRCA2):c.7806-1175C>T http://identifiers.org/clinvar/209774 ^@ NM_000059.3(BRCA2):c.7806-1019G>A http://identifiers.org/clinvar/209775 ^@ NM_000059.3(BRCA2):c.7806-429C>G http://identifiers.org/clinvar/209776 ^@ NM_000059.3(BRCA2):c.7806-288G>A http://identifiers.org/clinvar/209777 ^@ NM_000059.3(BRCA2):c.8331+109G>A http://identifiers.org/clinvar/209778 ^@ NM_000059.3(BRCA2):c.8331+333A>G http://identifiers.org/clinvar/209779 ^@ NM_000059.3(BRCA2):c.8331+503A>C http://identifiers.org/clinvar/209780 ^@ NM_000059.3(BRCA2):c.8331+705dupT http://identifiers.org/clinvar/209781 ^@ NM_000059.3(BRCA2):c.8331+782A>G http://identifiers.org/clinvar/209782 ^@ NM_000059.3(BRCA2):c.8331+999T>A http://identifiers.org/clinvar/209783 ^@ NM_000059.3(BRCA2):c.8331+1086dupT http://identifiers.org/clinvar/209784 ^@ NM_000059.3(BRCA2):c.8331+1211A>G http://identifiers.org/clinvar/209785 ^@ NM_000059.3(BRCA2):c.8331+1315C>T http://identifiers.org/clinvar/209786 ^@ NM_000059.3(BRCA2):c.8331+1415C>T http://identifiers.org/clinvar/209787 ^@ NM_000059.3(BRCA2):c.8331+1616T>G http://identifiers.org/clinvar/209788 ^@ NM_000059.3(BRCA2):c.8331+1632G>A http://identifiers.org/clinvar/209943 ^@ NM_000059.3(BRCA2):c.8331+1644C>T http://identifiers.org/clinvar/209789 ^@ NM_000059.3(BRCA2):c.8331+2609G>A http://identifiers.org/clinvar/209944 ^@ NM_000059.3(BRCA2):c.8331+2675C>A http://identifiers.org/clinvar/209790 ^@ NM_000059.3(BRCA2):c.8331+2724A>C http://identifiers.org/clinvar/209791 ^@ NM_000059.3(BRCA2):c.8331+3218C>T http://identifiers.org/clinvar/209793 ^@ NM_000059.3(BRCA2):c.8332-3423G>T http://identifiers.org/clinvar/209794 ^@ NM_000059.3(BRCA2):c.8332-3394A>G http://identifiers.org/clinvar/209795 ^@ NM_000059.3(BRCA2):c.8332-3243G>T http://identifiers.org/clinvar/209796 ^@ NM_000059.3(BRCA2):c.8332-3098C>T http://identifiers.org/clinvar/209797 ^@ NM_000059.3(BRCA2):c.8332-2916A>G http://identifiers.org/clinvar/209798 ^@ NM_000059.3(BRCA2):c.8332-2823_8332-2822insGATGGCTTG http://identifiers.org/clinvar/209799 ^@ NM_000059.3(BRCA2):c.8332-2756T>G http://identifiers.org/clinvar/209800 ^@ NM_000059.3(BRCA2):c.8332-2438C>T http://identifiers.org/clinvar/209801 ^@ NM_000059.3(BRCA2):c.8332-2102T>G http://identifiers.org/clinvar/209802 ^@ NM_000059.3(BRCA2):c.8332-1949T>C http://identifiers.org/clinvar/209803 ^@ NM_000059.3(BRCA2):c.8332-1824C>T http://identifiers.org/clinvar/209804 ^@ NM_000059.3(BRCA2):c.8332-1595_8332-1594insG http://identifiers.org/clinvar/209805 ^@ NM_000059.3(BRCA2):c.8332-1467C>T http://identifiers.org/clinvar/209806 ^@ NM_000059.3(BRCA2):c.8332-1404C>T http://identifiers.org/clinvar/209807 ^@ NM_000059.3(BRCA2):c.8332-1361C>G http://identifiers.org/clinvar/209808 ^@ NM_000059.3(BRCA2):c.8332-1196_8332-1195del http://identifiers.org/clinvar/209809 ^@ NM_000059.3(BRCA2):c.8332-790C>A http://identifiers.org/clinvar/209810 ^@ NM_000059.3(BRCA2):c.8332-757C>T http://identifiers.org/clinvar/209811 ^@ NM_000059.3(BRCA2):c.8332-703G>A http://identifiers.org/clinvar/209812 ^@ NM_000059.3(BRCA2):c.8332-483G>T http://identifiers.org/clinvar/209813 ^@ NM_000059.3(BRCA2):c.8332-441G>A http://identifiers.org/clinvar/209814 ^@ NM_000059.3(BRCA2):c.8488-108C>T http://identifiers.org/clinvar/209815 ^@ NM_000059.3(BRCA2):c.8632+132dupC http://identifiers.org/clinvar/209816 ^@ NM_000059.3(BRCA2):c.8632+300A>T http://identifiers.org/clinvar/209817 ^@ NM_000059.3(BRCA2):c.8632+332T>A http://identifiers.org/clinvar/209818 ^@ NM_000059.3(BRCA2):c.8632+374C>T http://identifiers.org/clinvar/209819 ^@ NM_000059.3(BRCA2):c.8632+392T>C http://identifiers.org/clinvar/209820 ^@ NM_000059.3(BRCA2):c.8632+480A>G http://identifiers.org/clinvar/209821 ^@ NM_000059.3(BRCA2):c.8632+695C>T http://identifiers.org/clinvar/209822 ^@ NM_000059.3(BRCA2):c.8632+742A>T http://identifiers.org/clinvar/209945 ^@ NM_000059.3(BRCA2):c.8632+774A>G http://identifiers.org/clinvar/209823 ^@ NM_000059.3(BRCA2):c.8632+982G>A http://identifiers.org/clinvar/209946 ^@ NM_000059.3(BRCA2):c.8632+1178C>T http://identifiers.org/clinvar/209824 ^@ NM_000059.3(BRCA2):c.8632+1183A>G http://identifiers.org/clinvar/209825 ^@ NM_000059.3(BRCA2):c.8632+1568G>A http://identifiers.org/clinvar/209826 ^@ NM_000059.3(BRCA2):c.8632+2231C>T http://identifiers.org/clinvar/209827 ^@ NM_000059.3(BRCA2):c.8632+2423A>T http://identifiers.org/clinvar/209828 ^@ NM_000059.3(BRCA2):c.8632+2424A>T http://identifiers.org/clinvar/209829 ^@ NM_000059.3(BRCA2):c.8632+2617C>G http://identifiers.org/clinvar/209830 ^@ NM_000059.3(BRCA2):c.8633-2542A>G http://identifiers.org/clinvar/209947 ^@ NM_000059.3(BRCA2):c.8633-1425T>C http://identifiers.org/clinvar/209831 ^@ NM_000059.3(BRCA2):c.8633-1274A>G http://identifiers.org/clinvar/209832 ^@ NM_000059.3(BRCA2):c.8633-1140C>G http://identifiers.org/clinvar/209833 ^@ NM_000059.3(BRCA2):c.8633-952G>A http://identifiers.org/clinvar/209948 ^@ NM_000059.3(BRCA2):c.8633-550A>G http://identifiers.org/clinvar/209835 ^@ NM_000059.3(BRCA2):c.8754+169A>G http://identifiers.org/clinvar/209836 ^@ NM_000059.3(BRCA2):c.8754+183A>C http://identifiers.org/clinvar/209837 ^@ NM_000059.3(BRCA2):c.8754+187C>T http://identifiers.org/clinvar/209838 ^@ NM_000059.3(BRCA2):c.8754+249G>A http://identifiers.org/clinvar/209839 ^@ NM_000059.3(BRCA2):c.8754+526C>T http://identifiers.org/clinvar/209840 ^@ NM_000059.3(BRCA2):c.8754+668A>C http://identifiers.org/clinvar/209841 ^@ NM_000059.3(BRCA2):c.8755-1098T>C http://identifiers.org/clinvar/209842 ^@ NM_000059.3(BRCA2):c.8755-1008G>C http://identifiers.org/clinvar/209843 ^@ NM_000059.3(BRCA2):c.8755-969A>G http://identifiers.org/clinvar/209844 ^@ NM_000059.3(BRCA2):c.8755-841T>C http://identifiers.org/clinvar/209845 ^@ NM_000059.3(BRCA2):c.8755-272A>G http://identifiers.org/clinvar/209846 ^@ NM_000059.3(BRCA2):c.8755-189G>A http://identifiers.org/clinvar/209847 ^@ NM_000059.3(BRCA2):c.9256+139C>T http://identifiers.org/clinvar/209949 ^@ NM_000059.3(BRCA2):c.9256+279G>A http://identifiers.org/clinvar/209848 ^@ NM_000059.3(BRCA2):c.9256+414G>A http://identifiers.org/clinvar/209950 ^@ NM_000059.3(BRCA2):c.9256+459T>A http://identifiers.org/clinvar/209849 ^@ NM_000059.3(BRCA2):c.9256+630C>T http://identifiers.org/clinvar/209850 ^@ NM_000059.3(BRCA2):c.9256+631G>A http://identifiers.org/clinvar/209951 ^@ NM_000059.3(BRCA2):c.9256+1115C>T http://identifiers.org/clinvar/209851 ^@ NM_000059.3(BRCA2):c.9256+1418T>A http://identifiers.org/clinvar/209852 ^@ NM_000059.3(BRCA2):c.9256+1507G>T http://identifiers.org/clinvar/209853 ^@ NM_000059.3(BRCA2):c.9256+1827G>A http://identifiers.org/clinvar/209854 ^@ NM_000059.3(BRCA2):c.9256+1862G>C http://identifiers.org/clinvar/209855 ^@ NM_000059.3(BRCA2):c.9256+1888T>G http://identifiers.org/clinvar/209856 ^@ NM_000059.3(BRCA2):c.9256+2001G>A http://identifiers.org/clinvar/209857 ^@ NM_000059.3(BRCA2):c.9256+2454dupG http://identifiers.org/clinvar/209858 ^@ NM_000059.3(BRCA2):c.9256+2475G>A http://identifiers.org/clinvar/209859 ^@ NM_000059.3(BRCA2):c.9256+3032G>A http://identifiers.org/clinvar/209860 ^@ NM_000059.3(BRCA2):c.9256+3537G>A http://identifiers.org/clinvar/209861 ^@ NM_000059.3(BRCA2):c.9256+3690G>C http://identifiers.org/clinvar/209862 ^@ NM_000059.3(BRCA2):c.9256+3870G>A http://identifiers.org/clinvar/209863 ^@ NM_000059.3(BRCA2):c.9256+4184T>G http://identifiers.org/clinvar/209864 ^@ NM_000059.3(BRCA2):c.9256+4367G>A http://identifiers.org/clinvar/209865 ^@ NM_000059.3(BRCA2):c.9256+4541G>A http://identifiers.org/clinvar/209866 ^@ NM_000059.3(BRCA2):c.9256+4605G>A http://identifiers.org/clinvar/209867 ^@ NM_000059.3(BRCA2):c.9256+4715G>A http://identifiers.org/clinvar/209952 ^@ NM_000059.3(BRCA2):c.9256+4917C>T http://identifiers.org/clinvar/209868 ^@ NM_000059.3(BRCA2):c.9256+4954C>T http://identifiers.org/clinvar/209869 ^@ NM_000059.3(BRCA2):c.9256+4958C>A http://identifiers.org/clinvar/209870 ^@ NM_000059.3(BRCA2):c.9256+5252A>G http://identifiers.org/clinvar/209871 ^@ NM_000059.3(BRCA2):c.9256+5256G>A http://identifiers.org/clinvar/209872 ^@ NM_000059.3(BRCA2):c.9256+5507T>C http://identifiers.org/clinvar/209953 ^@ NM_000059.3(BRCA2):c.9256+5557A>C http://identifiers.org/clinvar/209873 ^@ NM_000059.3(BRCA2):c.9256+5762T>C http://identifiers.org/clinvar/209954 ^@ NM_000059.3(BRCA2):c.9256+6081T>G http://identifiers.org/clinvar/209874 ^@ NM_000059.3(BRCA2):c.9256+6386C>T http://identifiers.org/clinvar/209875 ^@ NM_000059.3(BRCA2):c.9256+6415A>G http://identifiers.org/clinvar/209876 ^@ NM_000059.3(BRCA2):c.9256+6706A>G http://identifiers.org/clinvar/209877 ^@ NM_000059.3(BRCA2):c.9256+6908del http://identifiers.org/clinvar/209878 ^@ NM_000059.3(BRCA2):c.9256+7215C>T http://identifiers.org/clinvar/209879 ^@ NM_000059.3(BRCA2):c.9257-7242C>T http://identifiers.org/clinvar/209955 ^@ NM_000059.3(BRCA2):c.9257-6781A>C http://identifiers.org/clinvar/209956 ^@ NM_000059.3(BRCA2):c.9257-6738C>T http://identifiers.org/clinvar/209880 ^@ NM_000059.3(BRCA2):c.9257-6626C>T http://identifiers.org/clinvar/209957 ^@ NM_000059.3(BRCA2):c.9257-6508T>C http://identifiers.org/clinvar/209881 ^@ NM_000059.3(BRCA2):c.9257-6283A>G http://identifiers.org/clinvar/209882 ^@ NM_000059.3(BRCA2):c.9257-6147T>A http://identifiers.org/clinvar/209883 ^@ NM_000059.3(BRCA2):c.9257-6141C>T http://identifiers.org/clinvar/209884 ^@ NM_000059.3(BRCA2):c.9257-5297C>G http://identifiers.org/clinvar/209958 ^@ NM_000059.3(BRCA2):c.9257-5119C>T http://identifiers.org/clinvar/209885 ^@ NM_000059.3(BRCA2):c.9257-4988A>G http://identifiers.org/clinvar/209886 ^@ NM_000059.3(BRCA2):c.9257-4893T>C http://identifiers.org/clinvar/209887 ^@ NM_000059.3(BRCA2):c.9257-4879A>G http://identifiers.org/clinvar/209888 ^@ NM_000059.3(BRCA2):c.9257-4643G>A http://identifiers.org/clinvar/209889 ^@ NM_000059.3(BRCA2):c.9257-4424G>T http://identifiers.org/clinvar/209890 ^@ NM_000059.3(BRCA2):c.9257-4327C>T http://identifiers.org/clinvar/209891 ^@ NM_000059.3(BRCA2):c.9257-4322C>T http://identifiers.org/clinvar/209892 ^@ NM_000059.3(BRCA2):c.9257-4185T>C http://identifiers.org/clinvar/209893 ^@ NM_000059.3(BRCA2):c.9257-3516G>A http://identifiers.org/clinvar/209959 ^@ NM_000059.3(BRCA2):c.9257-3175T>C http://identifiers.org/clinvar/209894 ^@ NM_000059.3(BRCA2):c.9257-3062C>T http://identifiers.org/clinvar/209895 ^@ NM_000059.3(BRCA2):c.9257-3031A>T http://identifiers.org/clinvar/209896 ^@ NM_000059.3(BRCA2):c.9257-2746T>C http://identifiers.org/clinvar/209897 ^@ NM_000059.3(BRCA2):c.9257-2158G>A http://identifiers.org/clinvar/209898 ^@ NM_000059.3(BRCA2):c.9257-2144G>A http://identifiers.org/clinvar/209899 ^@ NM_000059.3(BRCA2):c.9257-1658del http://identifiers.org/clinvar/209900 ^@ NM_000059.3(BRCA2):c.9257-1580A>C http://identifiers.org/clinvar/209901 ^@ NM_000059.3(BRCA2):c.9257-1523A>G http://identifiers.org/clinvar/209902 ^@ NM_000059.3(BRCA2):c.9257-1451del http://identifiers.org/clinvar/209960 ^@ NM_000059.3(BRCA2):c.9257-1360A>G http://identifiers.org/clinvar/209903 ^@ NM_000059.3(BRCA2):c.9257-1017C>G http://identifiers.org/clinvar/209904 ^@ NM_000059.3(BRCA2):c.9257-815T>C http://identifiers.org/clinvar/209905 ^@ NM_000059.3(BRCA2):c.9257-543G>A http://identifiers.org/clinvar/209906 ^@ NM_000059.3(BRCA2):c.9257-536C>G http://identifiers.org/clinvar/209907 ^@ NM_000059.3(BRCA2):c.9257-517A>G http://identifiers.org/clinvar/209908 ^@ NM_000059.3(BRCA2):c.9257-276G>A http://identifiers.org/clinvar/209961 ^@ NM_000059.3(BRCA2):c.9257-235G>A http://identifiers.org/clinvar/209962 ^@ NM_000059.3(BRCA2):c.9257-219A>G http://identifiers.org/clinvar/209909 ^@ NM_000059.3(BRCA2):c.9257-143T>A http://identifiers.org/clinvar/209910 ^@ NM_000059.3(BRCA2):c.9257-113T>G http://identifiers.org/clinvar/209911 ^@ NM_000059.3(BRCA2):c.9501+178A>G http://identifiers.org/clinvar/209912 ^@ NM_000059.3(BRCA2):c.9501+961T>C http://identifiers.org/clinvar/209913 ^@ NM_000059.3(BRCA2):c.9502-980T>G http://identifiers.org/clinvar/209914 ^@ NM_000059.3(BRCA2):c.9502-934T>C http://identifiers.org/clinvar/209915 ^@ NM_000059.3(BRCA2):c.9502-650A>G http://identifiers.org/clinvar/209916 ^@ NM_000059.3(BRCA2):c.9502-602G>A http://identifiers.org/clinvar/209917 ^@ NM_000059.3(BRCA2):c.9502-449A>G http://identifiers.org/clinvar/209918 ^@ NM_000059.3(BRCA2):c.9502-436A>G http://identifiers.org/clinvar/209963 ^@ NM_000059.3(BRCA2):c.9502-299G>C http://identifiers.org/clinvar/209964 ^@ NM_000059.3(BRCA2):c.9648+244T>C http://identifiers.org/clinvar/209920 ^@ NM_000059.3(BRCA2):c.9648+409A>G http://identifiers.org/clinvar/209921 ^@ NM_000059.3(BRCA2):c.9648+526dupT http://identifiers.org/clinvar/209922 ^@ NM_000059.3(BRCA2):c.9649-243T>G http://identifiers.org/clinvar/209923 ^@ NM_000059.3(BRCA2):c.*295C>G http://identifiers.org/clinvar/209924 ^@ NM_000059.3(BRCA2):c.*369A>G http://identifiers.org/clinvar/209925 ^@ NM_000059.3(BRCA2):c.*373delA http://identifiers.org/clinvar/209926 ^@ NM_000059.3(BRCA2):c.*390A>G http://identifiers.org/clinvar/209927 ^@ NM_000059.3(BRCA2):c.*397C>A http://identifiers.org/clinvar/209928 ^@ NM_000059.3(BRCA2):c.*532A>G http://identifiers.org/clinvar/209219 ^@ NM_007294.3(BRCA1):c.*6207C>T http://identifiers.org/clinvar/209220 ^@ NM_007294.3(BRCA1):c.*5860C>T http://identifiers.org/clinvar/209221 ^@ NM_007294.3(BRCA1):c.*5678_*5679insAT http://identifiers.org/clinvar/209222 ^@ NM_007294.3(BRCA1):c.*5513G>A http://identifiers.org/clinvar/209223 ^@ NM_007294.3(BRCA1):c.*4549G>C http://identifiers.org/clinvar/209224 ^@ NM_007294.3(BRCA1):c.*4271T>A http://identifiers.org/clinvar/209225 ^@ NM_007294.3(BRCA1):c.*4056C>A http://identifiers.org/clinvar/209226 ^@ NM_007294.3(BRCA1):c.*3785T>A http://identifiers.org/clinvar/209227 ^@ NM_007294.3(BRCA1):c.*2810A>G http://identifiers.org/clinvar/209228 ^@ NM_007294.3(BRCA1):c.*2670A>T http://identifiers.org/clinvar/209229 ^@ NM_007294.3(BRCA1):c.*2602C>T http://identifiers.org/clinvar/209230 ^@ NM_007294.3(BRCA1):c.*1984C>G http://identifiers.org/clinvar/209231 ^@ NM_007294.3(BRCA1):c.*1922T>C http://identifiers.org/clinvar/209232 ^@ NM_007294.3(BRCA1):c.*1332G>A http://identifiers.org/clinvar/209233 ^@ NM_007294.3(BRCA1):c.*1113G>A http://identifiers.org/clinvar/209234 ^@ NM_007294.3(BRCA1):c.*421G>T http://identifiers.org/clinvar/209235 ^@ NM_007294.3(BRCA1):c.*228A>G http://identifiers.org/clinvar/209236 ^@ NM_007294.3(BRCA1):c.5468-268A>C http://identifiers.org/clinvar/209237 ^@ NM_007294.3(BRCA1):c.5468-451C>T http://identifiers.org/clinvar/209238 ^@ NM_007294.3(BRCA1):c.5468-802T>C http://identifiers.org/clinvar/209239 ^@ NM_007294.3(BRCA1):c.5467+712C>G http://identifiers.org/clinvar/209240 ^@ NM_007294.3(BRCA1):c.5467+658G>A http://identifiers.org/clinvar/209241 ^@ NM_007294.3(BRCA1):c.5467+537A>G http://identifiers.org/clinvar/209242 ^@ NM_007294.3(BRCA1):c.5467+482C>T http://identifiers.org/clinvar/209243 ^@ NM_007294.3(BRCA1):c.5407-193A>G http://identifiers.org/clinvar/209244 ^@ NM_007294.3(BRCA1):c.5407-389A>G http://identifiers.org/clinvar/209245 ^@ NM_007294.3(BRCA1):c.5406+613_5406+614del http://identifiers.org/clinvar/209246 ^@ NM_007294.3(BRCA1):c.5406+601_5406+602insG http://identifiers.org/clinvar/209247 ^@ NM_007294.3(BRCA1):c.5406+601A>G http://identifiers.org/clinvar/209248 ^@ NM_007294.3(BRCA1):c.5333-153A>G http://identifiers.org/clinvar/209249 ^@ NM_007294.3(BRCA1):c.5333-221C>A http://identifiers.org/clinvar/209250 ^@ NM_007294.3(BRCA1):c.5333-254A>G http://identifiers.org/clinvar/209251 ^@ NM_007294.3(BRCA1):c.5333-304G>A http://identifiers.org/clinvar/209252 ^@ NM_007294.3(BRCA1):c.5333-491G>A http://identifiers.org/clinvar/209253 ^@ NM_007294.3(BRCA1):c.5332+501C>T http://identifiers.org/clinvar/209254 ^@ NM_007294.3(BRCA1):c.5332+490T>A http://identifiers.org/clinvar/209255 ^@ NM_007294.3(BRCA1):c.5332+454del http://identifiers.org/clinvar/209256 ^@ NM_007294.3(BRCA1):c.5332+392C>T http://identifiers.org/clinvar/209257 ^@ NM_007294.3(BRCA1):c.5332+185A>C http://identifiers.org/clinvar/209258 ^@ NM_007294.3(BRCA1):c.5332+182dupA http://identifiers.org/clinvar/209259 ^@ NM_007294.3(BRCA1):c.5278-191A>T http://identifiers.org/clinvar/209260 ^@ NM_007294.3(BRCA1):c.5278-457A>G http://identifiers.org/clinvar/209261 ^@ NM_007294.3(BRCA1):c.5278-573C>T http://identifiers.org/clinvar/209262 ^@ NM_007294.3(BRCA1):c.5278-866G>C http://identifiers.org/clinvar/209263 ^@ NM_007294.3(BRCA1):c.5278-884A>G http://identifiers.org/clinvar/209264 ^@ NM_007294.3(BRCA1):c.5278-1071G>A http://identifiers.org/clinvar/209265 ^@ NM_007294.3(BRCA1):c.5278-1227C>T http://identifiers.org/clinvar/209266 ^@ NM_007294.3(BRCA1):c.5278-1243T>C http://identifiers.org/clinvar/209267 ^@ NM_007294.3(BRCA1):c.5278-1256A>G http://identifiers.org/clinvar/209268 ^@ NM_007294.3(BRCA1):c.5278-1519A>G http://identifiers.org/clinvar/209269 ^@ NM_007294.3(BRCA1):c.5278-1644A>G http://identifiers.org/clinvar/209270 ^@ NM_007294.3(BRCA1):c.5278-1722C>T http://identifiers.org/clinvar/209271 ^@ NM_007294.3(BRCA1):c.5278-1766A>C http://identifiers.org/clinvar/209272 ^@ NM_007294.3(BRCA1):c.5278-1874G>A http://identifiers.org/clinvar/209273 ^@ NM_007294.3(BRCA1):c.5278-1918G>A http://identifiers.org/clinvar/209274 ^@ NM_007294.3(BRCA1):c.5278-2237del http://identifiers.org/clinvar/209275 ^@ NM_007294.3(BRCA1):c.5278-2498G>A http://identifiers.org/clinvar/209276 ^@ NM_007294.3(BRCA1):c.5278-2587C>T http://identifiers.org/clinvar/209277 ^@ NM_007294.3(BRCA1):c.5278-2638C>T http://identifiers.org/clinvar/209278 ^@ NM_007294.3(BRCA1):c.5278-2807T>C http://identifiers.org/clinvar/209279 ^@ NM_007294.3(BRCA1):c.5278-2922A>G http://identifiers.org/clinvar/209280 ^@ NM_007294.3(BRCA1):c.5278-2963G>A http://identifiers.org/clinvar/209281 ^@ NM_007294.3(BRCA1):c.5277+2439T>A http://identifiers.org/clinvar/209282 ^@ NM_007294.3(BRCA1):c.5277+2217A>G http://identifiers.org/clinvar/209283 ^@ NM_007294.3(BRCA1):c.5277+1607G>T http://identifiers.org/clinvar/209284 ^@ NM_007294.3(BRCA1):c.5277+1409G>A http://identifiers.org/clinvar/209285 ^@ NM_007294.3(BRCA1):c.5277+853T>G http://identifiers.org/clinvar/209286 ^@ NM_007294.3(BRCA1):c.5277+764G>A http://identifiers.org/clinvar/209287 ^@ NM_007294.3(BRCA1):c.5277+602T>C http://identifiers.org/clinvar/209288 ^@ NM_007294.3(BRCA1):c.5277+365del http://identifiers.org/clinvar/209289 ^@ NM_007294.3(BRCA1):c.5194-221T>C http://identifiers.org/clinvar/209290 ^@ NM_007294.3(BRCA1):c.5194-423C>T http://identifiers.org/clinvar/209291 ^@ NM_007294.3(BRCA1):c.5194-426A>G http://identifiers.org/clinvar/209292 ^@ NM_007294.3(BRCA1):c.5194-466G>A http://identifiers.org/clinvar/209293 ^@ NM_007294.3(BRCA1):c.5194-475G>T http://identifiers.org/clinvar/209294 ^@ NM_007294.3(BRCA1):c.5194-1179G>T http://identifiers.org/clinvar/209295 ^@ NM_007294.3(BRCA1):c.5194-1242T>G http://identifiers.org/clinvar/209296 ^@ NM_007294.3(BRCA1):c.5194-1244T>G http://identifiers.org/clinvar/209297 ^@ NM_007294.3(BRCA1):c.5194-1264A>G http://identifiers.org/clinvar/209298 ^@ NM_007294.3(BRCA1):c.5194-1450A>G http://identifiers.org/clinvar/209299 ^@ NM_007294.3(BRCA1):c.5194-2072G>A http://identifiers.org/clinvar/209300 ^@ NM_007294.3(BRCA1):c.5194-2216G>T http://identifiers.org/clinvar/209301 ^@ NM_007294.3(BRCA1):c.5194-2501T>C http://identifiers.org/clinvar/209302 ^@ NM_007294.3(BRCA1):c.5194-2801A>G http://identifiers.org/clinvar/209303 ^@ NM_007294.3(BRCA1):c.5194-3017G>A http://identifiers.org/clinvar/209304 ^@ NM_007294.3(BRCA1):c.5194-3028G>A http://identifiers.org/clinvar/209305 ^@ NM_007294.3(BRCA1):c.5193+3012T>G http://identifiers.org/clinvar/209306 ^@ NM_007294.3(BRCA1):c.5193+2803G>A http://identifiers.org/clinvar/209307 ^@ NM_007294.3(BRCA1):c.5193+2588C>T http://identifiers.org/clinvar/209308 ^@ NM_007294.3(BRCA1):c.5193+2545G>A http://identifiers.org/clinvar/209309 ^@ NM_007294.3(BRCA1):c.5193+2337G>A http://identifiers.org/clinvar/209310 ^@ NM_007294.3(BRCA1):c.5193+2256C>G http://identifiers.org/clinvar/209311 ^@ NM_007294.3(BRCA1):c.5193+2230C>G http://identifiers.org/clinvar/209312 ^@ NM_007294.3(BRCA1):c.5193+2032G>A http://identifiers.org/clinvar/209313 ^@ NM_007294.3(BRCA1):c.5193+1724C>A http://identifiers.org/clinvar/209314 ^@ NM_007294.3(BRCA1):c.5193+1690A>G http://identifiers.org/clinvar/209315 ^@ NM_007294.3(BRCA1):c.5193+1602A>G http://identifiers.org/clinvar/209316 ^@ NM_007294.3(BRCA1):c.5193+1590G>A http://identifiers.org/clinvar/209317 ^@ NM_007294.3(BRCA1):c.5193+1457G>A http://identifiers.org/clinvar/209318 ^@ NM_007294.3(BRCA1):c.5193+1354G>A http://identifiers.org/clinvar/209319 ^@ NM_007294.3(BRCA1):c.5193+1271A>G http://identifiers.org/clinvar/209320 ^@ NM_007294.3(BRCA1):c.5193+1139_5193+1140del http://identifiers.org/clinvar/209321 ^@ NM_007294.3(BRCA1):c.5193+730A>T http://identifiers.org/clinvar/209322 ^@ NM_007294.3(BRCA1):c.5075-237C>A http://identifiers.org/clinvar/209323 ^@ NM_007294.3(BRCA1):c.5075-238A>G http://identifiers.org/clinvar/209324 ^@ NM_007294.3(BRCA1):c.5075-373C>T http://identifiers.org/clinvar/209325 ^@ NM_007294.3(BRCA1):c.5075-376C>T http://identifiers.org/clinvar/209326 ^@ NM_007294.3(BRCA1):c.5075-745A>T http://identifiers.org/clinvar/209327 ^@ NM_007294.3(BRCA1):c.5075-965A>G http://identifiers.org/clinvar/209328 ^@ NM_007294.3(BRCA1):c.5075-1073C>A http://identifiers.org/clinvar/209329 ^@ NM_007294.3(BRCA1):c.5075-1135G>A http://identifiers.org/clinvar/209330 ^@ NM_007294.3(BRCA1):c.5075-1139del http://identifiers.org/clinvar/209331 ^@ NM_007294.3(BRCA1):c.5075-1143G>A http://identifiers.org/clinvar/209332 ^@ NM_007294.3(BRCA1):c.5075-1412T>C http://identifiers.org/clinvar/209333 ^@ NM_007294.3(BRCA1):c.5075-1546A>G http://identifiers.org/clinvar/209334 ^@ NM_007294.3(BRCA1):c.5075-1584T>G http://identifiers.org/clinvar/209335 ^@ NM_007294.3(BRCA1):c.5074+1751G>A http://identifiers.org/clinvar/209336 ^@ NM_007294.3(BRCA1):c.5074+1292C>T http://identifiers.org/clinvar/209337 ^@ NM_007294.3(BRCA1):c.5074+1253T>C http://identifiers.org/clinvar/209338 ^@ NM_007294.3(BRCA1):c.5074+1199C>G http://identifiers.org/clinvar/209339 ^@ NM_007294.3(BRCA1):c.5074+1158G>A http://identifiers.org/clinvar/209340 ^@ NM_007294.3(BRCA1):c.5074+1053A>G http://identifiers.org/clinvar/209341 ^@ NM_007294.3(BRCA1):c.5074+1010T>G http://identifiers.org/clinvar/209342 ^@ NM_007294.3(BRCA1):c.5074+918G>A http://identifiers.org/clinvar/209343 ^@ NM_007294.3(BRCA1):c.5074+909C>T http://identifiers.org/clinvar/209344 ^@ NM_007294.3(BRCA1):c.5074+878G>A http://identifiers.org/clinvar/209345 ^@ NM_007294.3(BRCA1):c.5074+820T>C http://identifiers.org/clinvar/209346 ^@ NM_007294.3(BRCA1):c.5074+265G>A http://identifiers.org/clinvar/209347 ^@ NM_007294.3(BRCA1):c.5074+228C>T http://identifiers.org/clinvar/209348 ^@ NM_007294.3(BRCA1):c.5074+221A>G http://identifiers.org/clinvar/209349 ^@ NM_007294.3(BRCA1):c.5074+205G>A http://identifiers.org/clinvar/209350 ^@ NM_007294.3(BRCA1):c.4987-511T>C http://identifiers.org/clinvar/209351 ^@ NM_007294.3(BRCA1):c.4987-576G>A http://identifiers.org/clinvar/209352 ^@ NM_007294.3(BRCA1):c.4987-608G>T http://identifiers.org/clinvar/209353 ^@ NM_007294.3(BRCA1):c.4987-1060G>A http://identifiers.org/clinvar/209354 ^@ NM_007294.3(BRCA1):c.4987-1466G>A http://identifiers.org/clinvar/209355 ^@ NM_007294.3(BRCA1):c.4986+1349G>T http://identifiers.org/clinvar/209356 ^@ NM_007294.3(BRCA1):c.4986+846G>A http://identifiers.org/clinvar/209357 ^@ NM_007294.3(BRCA1):c.4986+484A>T http://identifiers.org/clinvar/209358 ^@ NM_007294.3(BRCA1):c.4986+483T>C http://identifiers.org/clinvar/209359 ^@ NM_007294.3(BRCA1):c.4986+222A>G http://identifiers.org/clinvar/209360 ^@ NM_007294.3(BRCA1):c.4676-777del http://identifiers.org/clinvar/209361 ^@ NM_007294.3(BRCA1):c.4676-1011G>A http://identifiers.org/clinvar/209362 ^@ NM_007294.3(BRCA1):c.4676-1025G>A http://identifiers.org/clinvar/209363 ^@ NM_007294.3(BRCA1):c.4675+1515C>G http://identifiers.org/clinvar/209364 ^@ NM_007294.3(BRCA1):c.4675+903C>T http://identifiers.org/clinvar/209365 ^@ NM_007294.3(BRCA1):c.4675+693del http://identifiers.org/clinvar/209366 ^@ NM_007294.3(BRCA1):c.4675+581T>C http://identifiers.org/clinvar/209367 ^@ NM_007294.3(BRCA1):c.4675+569T>A http://identifiers.org/clinvar/209368 ^@ NM_007294.3(BRCA1):c.4675+567T>A http://identifiers.org/clinvar/209369 ^@ NM_007294.3(BRCA1):c.4675+565T>A http://identifiers.org/clinvar/209370 ^@ NM_007294.3(BRCA1):c.4675+563A>T http://identifiers.org/clinvar/209371 ^@ NM_007294.3(BRCA1):c.4675+509A>G http://identifiers.org/clinvar/209372 ^@ NM_007294.3(BRCA1):c.4675+315A>C http://identifiers.org/clinvar/209373 ^@ NM_007294.3(BRCA1):c.4675+105G>A http://identifiers.org/clinvar/209374 ^@ NM_007294.3(BRCA1):c.4485-63C>G http://identifiers.org/clinvar/209375 ^@ NM_007294.3(BRCA1):c.4485-137T>A http://identifiers.org/clinvar/209376 ^@ NM_007294.3(BRCA1):c.4485-203_4485-199del http://identifiers.org/clinvar/209377 ^@ NM_007294.3(BRCA1):c.4485-340G>A http://identifiers.org/clinvar/209378 ^@ NM_007294.3(BRCA1):c.4485-546_4485-545insTTCC http://identifiers.org/clinvar/209379 ^@ NM_007294.3(BRCA1):c.4484+899C>T http://identifiers.org/clinvar/209380 ^@ NM_007294.3(BRCA1):c.4484+463C>T http://identifiers.org/clinvar/209381 ^@ NM_007294.3(BRCA1):c.4484+385A>G http://identifiers.org/clinvar/209382 ^@ NM_007294.3(BRCA1):c.4358-755A>G http://identifiers.org/clinvar/209383 ^@ NM_007294.3(BRCA1):c.4358-1130del http://identifiers.org/clinvar/209384 ^@ NM_007294.3(BRCA1):c.4358-1147dupA http://identifiers.org/clinvar/209385 ^@ NM_007294.3(BRCA1):c.4358-1181T>C http://identifiers.org/clinvar/209386 ^@ NM_007294.3(BRCA1):c.4358-1226C>T http://identifiers.org/clinvar/209387 ^@ NM_007294.3(BRCA1):c.4358-1277A>T http://identifiers.org/clinvar/209388 ^@ NM_007294.3(BRCA1):c.4358-1413C>T http://identifiers.org/clinvar/209389 ^@ NM_007294.3(BRCA1):c.4358-1597C>T http://identifiers.org/clinvar/209390 ^@ NM_007294.3(BRCA1):c.4358-1705T>C http://identifiers.org/clinvar/209391 ^@ NM_007294.3(BRCA1):c.4358-1745T>C http://identifiers.org/clinvar/209392 ^@ NM_007294.3(BRCA1):c.4358-1893A>C http://identifiers.org/clinvar/209393 ^@ NM_007294.3(BRCA1):c.4358-1906T>A http://identifiers.org/clinvar/209394 ^@ NM_007294.3(BRCA1):c.4358-2324C>T http://identifiers.org/clinvar/209395 ^@ NM_007294.3(BRCA1):c.4358-2351G>A http://identifiers.org/clinvar/209396 ^@ NM_007294.3(BRCA1):c.4358-2359T>C http://identifiers.org/clinvar/209397 ^@ NM_007294.3(BRCA1):c.4358-2455C>T http://identifiers.org/clinvar/209398 ^@ NM_007294.3(BRCA1):c.4358-2590T>G http://identifiers.org/clinvar/209399 ^@ NM_007294.3(BRCA1):c.4358-2885G>A http://identifiers.org/clinvar/209400 ^@ NM_007294.3(BRCA1):c.4357+2723C>G http://identifiers.org/clinvar/209401 ^@ NM_007294.3(BRCA1):c.4357+2519C>T http://identifiers.org/clinvar/209402 ^@ NM_007294.3(BRCA1):c.4357+2128T>C http://identifiers.org/clinvar/209929 ^@ NM_007294.3(BRCA1):c.4357+2077C>G http://identifiers.org/clinvar/209403 ^@ NM_007294.3(BRCA1):c.4357+2045G>T http://identifiers.org/clinvar/209404 ^@ NM_007294.3(BRCA1):c.4357+1723G>A http://identifiers.org/clinvar/209405 ^@ NM_007294.3(BRCA1):c.4357+1563T>G http://identifiers.org/clinvar/209406 ^@ NM_007294.3(BRCA1):c.4357+1513dupT http://identifiers.org/clinvar/209407 ^@ NM_007294.3(BRCA1):c.4357+1386T>C http://identifiers.org/clinvar/209408 ^@ NM_007294.3(BRCA1):c.4357+1212T>C http://identifiers.org/clinvar/209409 ^@ NM_007294.3(BRCA1):c.4357+877C>G http://identifiers.org/clinvar/209410 ^@ NM_007294.3(BRCA1):c.4357+794G>A http://identifiers.org/clinvar/209411 ^@ NM_007294.3(BRCA1):c.4357+380A>G http://identifiers.org/clinvar/209412 ^@ NM_007294.3(BRCA1):c.4186-514T>C http://identifiers.org/clinvar/209413 ^@ NM_007294.3(BRCA1):c.4186-1207C>T http://identifiers.org/clinvar/209414 ^@ NM_007294.3(BRCA1):c.4186-1247A>T http://identifiers.org/clinvar/209415 ^@ NM_007294.3(BRCA1):c.4186-1451C>T http://identifiers.org/clinvar/209416 ^@ NM_007294.3(BRCA1):c.4186-2050A>G http://identifiers.org/clinvar/209417 ^@ NM_007294.3(BRCA1):c.4186-2483A>G http://identifiers.org/clinvar/209418 ^@ NM_007294.3(BRCA1):c.4186-2852T>C http://identifiers.org/clinvar/209419 ^@ NM_007294.3(BRCA1):c.4186-3102dupT http://identifiers.org/clinvar/209420 ^@ NM_007294.3(BRCA1):c.4186-3361C>T http://identifiers.org/clinvar/209421 ^@ NM_007294.3(BRCA1):c.4186-3420A>T http://identifiers.org/clinvar/209422 ^@ NM_007294.3(BRCA1):c.4186-3910T>C http://identifiers.org/clinvar/209423 ^@ NM_007294.3(BRCA1):c.4186-4027G>A http://identifiers.org/clinvar/209424 ^@ NM_007294.3(BRCA1):c.4185+3489C>T http://identifiers.org/clinvar/209425 ^@ NM_007294.3(BRCA1):c.4185+3470A>G http://identifiers.org/clinvar/209426 ^@ NM_007294.3(BRCA1):c.4185+3333T>C http://identifiers.org/clinvar/209427 ^@ NM_007294.3(BRCA1):c.4185+2684A>G http://identifiers.org/clinvar/209428 ^@ NM_007294.3(BRCA1):c.4185+2361G>A http://identifiers.org/clinvar/209429 ^@ NM_007294.3(BRCA1):c.4185+2211C>T http://identifiers.org/clinvar/209430 ^@ NM_007294.3(BRCA1):c.4185+2046T>C http://identifiers.org/clinvar/209431 ^@ NM_007294.3(BRCA1):c.4185+1787T>G http://identifiers.org/clinvar/209432 ^@ NM_007294.3(BRCA1):c.4185+1571G>T http://identifiers.org/clinvar/209433 ^@ NM_007294.3(BRCA1):c.4185+1458A>G http://identifiers.org/clinvar/209434 ^@ NM_007294.3(BRCA1):c.4185+1393_4185+1394insGA http://identifiers.org/clinvar/209435 ^@ NM_007294.3(BRCA1):c.4185+1392_4185+1393insG http://identifiers.org/clinvar/209436 ^@ NM_007294.3(BRCA1):c.4185+883_4185+885del http://identifiers.org/clinvar/209437 ^@ NM_007294.3(BRCA1):c.4185+880del http://identifiers.org/clinvar/209438 ^@ NM_007294.3(BRCA1):c.4185+879del http://identifiers.org/clinvar/209439 ^@ NM_007294.3(BRCA1):c.4185+676A>C http://identifiers.org/clinvar/209440 ^@ NM_007294.3(BRCA1):c.4185+563A>G http://identifiers.org/clinvar/209441 ^@ NM_007294.3(BRCA1):c.4185+355C>T http://identifiers.org/clinvar/209443 ^@ NM_007294.3(BRCA1):c.4185+112C>A http://identifiers.org/clinvar/209444 ^@ NM_007294.3(BRCA1):c.671-178G>A http://identifiers.org/clinvar/209445 ^@ NM_007294.3(BRCA1):c.671-244_671-243insGTA http://identifiers.org/clinvar/209447 ^@ NM_007294.3(BRCA1):c.670+259T>G http://identifiers.org/clinvar/209448 ^@ NM_007294.3(BRCA1):c.670+256T>G http://identifiers.org/clinvar/209449 ^@ NM_007294.3(BRCA1):c.594-225G>A http://identifiers.org/clinvar/209450 ^@ NM_007294.3(BRCA1):c.594-545C>G http://identifiers.org/clinvar/209451 ^@ NM_007294.3(BRCA1):c.593+167T>C http://identifiers.org/clinvar/209452 ^@ NM_007294.3(BRCA1):c.548-80T>C http://identifiers.org/clinvar/209453 ^@ NM_007294.3(BRCA1):c.548-293G>A http://identifiers.org/clinvar/209454 ^@ NM_007294.3(BRCA1):c.548-721C>G http://identifiers.org/clinvar/209455 ^@ NM_007294.3(BRCA1):c.548-916del http://identifiers.org/clinvar/209456 ^@ NM_007294.3(BRCA1):c.548-1135A>G http://identifiers.org/clinvar/209457 ^@ NM_007294.3(BRCA1):c.547+1209G>A http://identifiers.org/clinvar/209458 ^@ NM_007294.3(BRCA1):c.547+1113_547+1114insA http://identifiers.org/clinvar/209459 ^@ NM_007294.3(BRCA1):c.547+898C>G http://identifiers.org/clinvar/209460 ^@ NM_007294.3(BRCA1):c.547+869A>G http://identifiers.org/clinvar/209461 ^@ NM_007294.3(BRCA1):c.547+364_547+365del http://identifiers.org/clinvar/209462 ^@ NM_007294.3(BRCA1):c.547+322A>G http://identifiers.org/clinvar/209463 ^@ NM_007294.3(BRCA1):c.547+297G>C http://identifiers.org/clinvar/209464 ^@ NM_007294.3(BRCA1):c.547+284C>T http://identifiers.org/clinvar/209466 ^@ NM_007294.3(BRCA1):c.442-678C>T http://identifiers.org/clinvar/209465 ^@ NM_007294.3(BRCA1):c.442-680_442-679del http://identifiers.org/clinvar/209467 ^@ NM_007294.3(BRCA1):c.442-680T>C http://identifiers.org/clinvar/209469 ^@ NM_007294.3(BRCA1):c.442-707_442-706del http://identifiers.org/clinvar/209470 ^@ NM_007294.3(BRCA1):c.442-714T>C http://identifiers.org/clinvar/209471 ^@ NM_007294.3(BRCA1):c.442-715A>T http://identifiers.org/clinvar/209472 ^@ NM_007294.3(BRCA1):c.442-716A>G http://identifiers.org/clinvar/209473 ^@ NM_007294.3(BRCA1):c.442-730_442-729insAT http://identifiers.org/clinvar/209474 ^@ NM_007294.3(BRCA1):c.442-983G>A http://identifiers.org/clinvar/209475 ^@ NM_007294.3(BRCA1):c.442-1431G>A http://identifiers.org/clinvar/209476 ^@ NM_007294.3(BRCA1):c.442-1770C>G http://identifiers.org/clinvar/209477 ^@ NM_007294.3(BRCA1):c.441+1990C>T http://identifiers.org/clinvar/209478 ^@ NM_007294.3(BRCA1):c.441+1965T>C http://identifiers.org/clinvar/209479 ^@ NM_007294.3(BRCA1):c.441+1653A>C http://identifiers.org/clinvar/209480 ^@ NM_007294.3(BRCA1):c.441+1416C>T http://identifiers.org/clinvar/209481 ^@ NM_007294.3(BRCA1):c.441+1379G>T http://identifiers.org/clinvar/209482 ^@ NM_007294.3(BRCA1):c.441+1321G>A http://identifiers.org/clinvar/209483 ^@ NM_007294.3(BRCA1):c.441+1037T>C http://identifiers.org/clinvar/209484 ^@ NM_007294.3(BRCA1):c.441+1028T>A http://identifiers.org/clinvar/209485 ^@ NM_007294.3(BRCA1):c.441+868C>T http://identifiers.org/clinvar/209486 ^@ NM_007294.3(BRCA1):c.441+280G>A http://identifiers.org/clinvar/209487 ^@ NM_007294.3(BRCA1):c.302-70G>A http://identifiers.org/clinvar/209488 ^@ NM_007294.3(BRCA1):c.213-266A>G http://identifiers.org/clinvar/209489 ^@ NM_007294.3(BRCA1):c.213-485T>G http://identifiers.org/clinvar/209490 ^@ NM_007294.3(BRCA1):c.212+657A>G http://identifiers.org/clinvar/209491 ^@ NM_007294.3(BRCA1):c.212+430G>A http://identifiers.org/clinvar/209492 ^@ NM_007294.3(BRCA1):c.212+325T>C http://identifiers.org/clinvar/209493 ^@ NM_007294.3(BRCA1):c.135-396A>G http://identifiers.org/clinvar/209494 ^@ NM_007294.3(BRCA1):c.135-499G>A http://identifiers.org/clinvar/209495 ^@ NM_007294.3(BRCA1):c.135-766C>T http://identifiers.org/clinvar/209496 ^@ NM_007294.3(BRCA1):c.135-925T>C http://identifiers.org/clinvar/209497 ^@ NM_007294.3(BRCA1):c.135-1006G>A http://identifiers.org/clinvar/209498 ^@ NM_007294.3(BRCA1):c.135-1231G>A http://identifiers.org/clinvar/209499 ^@ NM_007294.3(BRCA1):c.135-2258T>C http://identifiers.org/clinvar/209500 ^@ NM_007294.3(BRCA1):c.135-2435C>G http://identifiers.org/clinvar/209501 ^@ NM_007294.3(BRCA1):c.135-2458G>A http://identifiers.org/clinvar/209502 ^@ NM_007294.3(BRCA1):c.135-2555C>G http://identifiers.org/clinvar/209503 ^@ NM_007294.3(BRCA1):c.135-2683G>A http://identifiers.org/clinvar/209504 ^@ NM_007294.3(BRCA1):c.135-3013T>A http://identifiers.org/clinvar/209505 ^@ NM_007294.3(BRCA1):c.135-3551G>A http://identifiers.org/clinvar/209506 ^@ NM_007294.3(BRCA1):c.135-3552C>T http://identifiers.org/clinvar/209507 ^@ NM_007294.3(BRCA1):c.135-3641C>T http://identifiers.org/clinvar/209508 ^@ NM_007294.3(BRCA1):c.135-3759A>G http://identifiers.org/clinvar/209509 ^@ NM_007294.3(BRCA1):c.135-3807T>C http://identifiers.org/clinvar/209510 ^@ NM_007294.3(BRCA1):c.135-3999C>T http://identifiers.org/clinvar/209511 ^@ NM_007294.3(BRCA1):c.135-4161C>G http://identifiers.org/clinvar/209512 ^@ NM_007294.3(BRCA1):c.135-4494T>C http://identifiers.org/clinvar/209513 ^@ NM_007294.3(BRCA1):c.135-4533T>C http://identifiers.org/clinvar/209514 ^@ NM_007294.3(BRCA1):c.134+4313C>T http://identifiers.org/clinvar/209515 ^@ NM_007294.3(BRCA1):c.134+4294A>T http://identifiers.org/clinvar/209516 ^@ NM_007294.3(BRCA1):c.134+4177A>G http://identifiers.org/clinvar/209517 ^@ NM_007294.3(BRCA1):c.134+4133C>T http://identifiers.org/clinvar/209518 ^@ NM_007294.3(BRCA1):c.134+3898T>G http://identifiers.org/clinvar/209519 ^@ NM_007294.3(BRCA1):c.134+3597C>T http://identifiers.org/clinvar/209520 ^@ NM_007294.3(BRCA1):c.134+3404C>T http://identifiers.org/clinvar/209521 ^@ NM_007294.3(BRCA1):c.134+3379T>C http://identifiers.org/clinvar/209522 ^@ NM_007294.3(BRCA1):c.134+2672A>G http://identifiers.org/clinvar/209523 ^@ NM_007294.3(BRCA1):c.134+2570A>C http://identifiers.org/clinvar/209524 ^@ NM_007294.3(BRCA1):c.134+1967T>C http://identifiers.org/clinvar/209525 ^@ NM_007294.3(BRCA1):c.134+1936C>G http://identifiers.org/clinvar/209526 ^@ NM_007294.3(BRCA1):c.134+1788C>T http://identifiers.org/clinvar/209527 ^@ NM_007294.3(BRCA1):c.134+1704dupG http://identifiers.org/clinvar/209528 ^@ NM_007294.3(BRCA1):c.134+1632C>A http://identifiers.org/clinvar/209529 ^@ NM_007294.3(BRCA1):c.134+1391C>T http://identifiers.org/clinvar/209530 ^@ NM_007294.3(BRCA1):c.134+746G>A http://identifiers.org/clinvar/209531 ^@ NM_007294.3(BRCA1):c.134+693C>T http://identifiers.org/clinvar/209532 ^@ NM_007294.3(BRCA1):c.134+563G>A http://identifiers.org/clinvar/209533 ^@ NM_007294.3(BRCA1):c.134+296C>T http://identifiers.org/clinvar/209534 ^@ NM_007294.3(BRCA1):c.134+202A>T http://identifiers.org/clinvar/209535 ^@ NM_007294.3(BRCA1):c.134+111C>T http://identifiers.org/clinvar/209536 ^@ NM_007294.3(BRCA1):c.81-189A>T http://identifiers.org/clinvar/209537 ^@ NM_007294.3(BRCA1):c.81-410T>G http://identifiers.org/clinvar/209538 ^@ NM_007294.3(BRCA1):c.81-672C>G http://identifiers.org/clinvar/209539 ^@ NM_007294.3(BRCA1):c.81-802G>A http://identifiers.org/clinvar/209540 ^@ NM_007294.3(BRCA1):c.81-950C>T http://identifiers.org/clinvar/209541 ^@ NM_007294.3(BRCA1):c.81-1202T>A http://identifiers.org/clinvar/209542 ^@ NM_007294.3(BRCA1):c.81-1384G>A http://identifiers.org/clinvar/209543 ^@ NM_007294.3(BRCA1):c.81-1519G>A http://identifiers.org/clinvar/209544 ^@ NM_007294.3(BRCA1):c.81-2286A>G http://identifiers.org/clinvar/209545 ^@ NM_007294.3(BRCA1):c.81-2433A>C http://identifiers.org/clinvar/209546 ^@ NM_007294.3(BRCA1):c.81-2439C>T http://identifiers.org/clinvar/209547 ^@ NM_007294.3(BRCA1):c.81-2481G>A http://identifiers.org/clinvar/209548 ^@ NM_007294.3(BRCA1):c.81-2559A>G http://identifiers.org/clinvar/209549 ^@ NM_007294.3(BRCA1):c.81-2622C>G http://identifiers.org/clinvar/209550 ^@ NM_007294.3(BRCA1):c.81-2646C>T http://identifiers.org/clinvar/209551 ^@ NM_007294.3(BRCA1):c.81-2667C>T http://identifiers.org/clinvar/209552 ^@ NM_007294.3(BRCA1):c.81-2870G>T http://identifiers.org/clinvar/209553 ^@ NM_007294.3(BRCA1):c.81-3255C>T http://identifiers.org/clinvar/209554 ^@ NM_007294.3(BRCA1):c.81-3426G>A http://identifiers.org/clinvar/209555 ^@ NM_007294.3(BRCA1):c.80+3724C>G http://identifiers.org/clinvar/209556 ^@ NM_007294.3(BRCA1):c.80+3207A>G http://identifiers.org/clinvar/209557 ^@ NM_007294.3(BRCA1):c.80+3038C>T http://identifiers.org/clinvar/209558 ^@ NM_007294.3(BRCA1):c.80+3011C>T http://identifiers.org/clinvar/209559 ^@ NM_007294.3(BRCA1):c.80+2939C>T http://identifiers.org/clinvar/209560 ^@ NM_007294.3(BRCA1):c.80+2786G>A http://identifiers.org/clinvar/209561 ^@ NM_007294.3(BRCA1):c.80+2686A>G http://identifiers.org/clinvar/209562 ^@ NM_007294.3(BRCA1):c.80+2655C>G http://identifiers.org/clinvar/209563 ^@ NM_007294.3(BRCA1):c.80+2612G>A http://identifiers.org/clinvar/209564 ^@ NM_007294.3(BRCA1):c.80+2497T>G http://identifiers.org/clinvar/209565 ^@ NM_007294.3(BRCA1):c.80+1256C>T http://identifiers.org/clinvar/209566 ^@ NM_007294.3(BRCA1):c.80+1245G>A http://identifiers.org/clinvar/209568 ^@ NM_007294.3(BRCA1):c.80+1128C>T http://identifiers.org/clinvar/209567 ^@ NM_007294.3(BRCA1):c.80+1128del http://identifiers.org/clinvar/209569 ^@ NM_007294.3(BRCA1):c.80+952dupT http://identifiers.org/clinvar/209570 ^@ NM_007294.3(BRCA1):c.80+883C>G http://identifiers.org/clinvar/209571 ^@ NM_007294.3(BRCA1):c.80+389T>C http://identifiers.org/clinvar/209572 ^@ NM_007294.3(BRCA1):c.80+379C>T http://identifiers.org/clinvar/209573 ^@ NM_007294.3(BRCA1):c.80+202C>T http://identifiers.org/clinvar/209574 ^@ NM_007294.3(BRCA1):c.-19-216A>G http://identifiers.org/clinvar/209575 ^@ NM_007294.3(BRCA1):c.-19-361C>T http://identifiers.org/clinvar/209576 ^@ NM_007294.3(BRCA1):c.-20+530G>A http://identifiers.org/clinvar/209577 ^@ NM_007294.3(BRCA1):c.-20+336C>T http://identifiers.org/clinvar/209578 ^@ NM_007294.3(BRCA1):c.-20+185T>G http://identifiers.org/clinvar/209579 ^@ NM_007294.3(BRCA1):c.-192T>C http://identifiers.org/clinvar/209580 ^@ NM_007294.3(BRCA1):c.-273G>A http://identifiers.org/clinvar/209581 ^@ NM_007294.3(BRCA1):c.-728A>G http://identifiers.org/clinvar/209582 ^@ NM_007294.3(BRCA1):c.-848A>G http://identifiers.org/clinvar/209583 ^@ NM_007294.3(BRCA1):c.-1109C>T http://identifiers.org/clinvar/209584 ^@ NM_007294.3(BRCA1):c.-1457G>C http://identifiers.org/clinvar/209585 ^@ NM_007294.3(BRCA1):c.-1465G>A http://identifiers.org/clinvar/209586 ^@ NM_007294.3(BRCA1):c.-1619G>A http://identifiers.org/clinvar/209587 ^@ NM_007294.3(BRCA1):c.-1648T>C http://identifiers.org/clinvar/209588 ^@ NM_007294.3(BRCA1):c.-1959C>T http://identifiers.org/clinvar/209589 ^@ NM_007294.3(BRCA1):c.-2030T>C http://identifiers.org/clinvar/209590 ^@ NM_007294.3(BRCA1):c.-2261T>C http://identifiers.org/clinvar/209591 ^@ NM_007294.3(BRCA1):c.-2266G>A http://identifiers.org/clinvar/209592 ^@ NM_007294.3(BRCA1):c.-2293C>G http://identifiers.org/clinvar/209593 ^@ NM_007294.3(BRCA1):c.-2502T>C http://identifiers.org/clinvar/209594 ^@ NM_007294.3(BRCA1):c.-2569G>T http://identifiers.org/clinvar/209595 ^@ NM_007294.3(BRCA1):c.-2614T>C http://identifiers.org/clinvar/209596 ^@ NM_007294.3(BRCA1):c.-2617_-2616del http://identifiers.org/clinvar/209967 ^@ NM_018249.5(CDK5RAP2):c.4604+1G>C http://identifiers.org/clinvar/209966 ^@ NM_018249.5(CDK5RAP2):c.3097delG (p.Val1033Serfs) http://identifiers.org/clinvar/209968 ^@ GRCh37/hg19 7q31.1(chr7:113925160..113934427)x1 http://identifiers.org/clinvar/209971 ^@ NM_001012509.3(SLC45A2):c.1273delC (p.Leu425Trpfs) http://identifiers.org/clinvar/209972 ^@ NM_032024.4(C10orf11):c.267C>A (p.Asn89Lys) http://identifiers.org/clinvar/209969 ^@ NM_000275.2(OCA2):c.1969G>C (p.Gly657Arg) http://identifiers.org/clinvar/209970 ^@ NM_000275.2(OCA2):c.1044+1G>T http://identifiers.org/clinvar/209978 ^@ NM_000123.3(ERCC5):c.2766dupA (p.Leu923Thrfs) http://identifiers.org/clinvar/209979 ^@ NM_001297.4(CNGB1):c.1589C>G (p.Pro530Arg) http://identifiers.org/clinvar/209980 ^@ NM_004722.3(AP4M1):c.1012C>T (p.Arg338Ter) http://identifiers.org/clinvar/209982 ^@ AP4B1, 1-BP DEL, 869C http://identifiers.org/clinvar/209986 ^@ NM_207352.3(CYP4V2):c.1396A>G (p.Asn466Asp) http://identifiers.org/clinvar/209988 ^@ NM_005559.3(LAMA1):c.8557-1G>C http://identifiers.org/clinvar/209987 ^@ NM_005559.3(LAMA1):c.6701delC (p.Pro2234Leufs) http://identifiers.org/clinvar/209991 ^@ NM_005559.3(LAMA1):c.6345+3G>C http://identifiers.org/clinvar/209992 ^@ NG_034251.1:g.71879_84006del12128 http://identifiers.org/clinvar/209989 ^@ NM_005559.3(LAMA1):c.768+1G>A http://identifiers.org/clinvar/209990 ^@ NM_005559.3:c.2988_2989delA http://identifiers.org/clinvar/209994 ^@ NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/209995 ^@ NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) http://identifiers.org/clinvar/209998 ^@ NM_000285.3(PEPD):c.1103T>G (p.Leu368Arg) http://identifiers.org/clinvar/209997 ^@ NM_000285.3(PEPD):c.634G>C (p.Ala212Pro) http://identifiers.org/clinvar/209999 ^@ NM_001256071.2(RNF213):c.1587_1589delCGC (p.Ala531del) http://identifiers.org/clinvar/210000 ^@ NM_001256071.2(RNF213):c.11765G>A (p.Arg3922Gln) http://identifiers.org/clinvar/210006 ^@ NM_001256071.2(RNF213):c.11990G>A (p.Cys3997Tyr) http://identifiers.org/clinvar/210007 ^@ NM_001256071.2(RNF213):c.12055C>T (p.Arg4019Cys) http://identifiers.org/clinvar/210008 ^@ NM_001256071.2(RNF213):c.12226A>G (p.Ile4076Val) http://identifiers.org/clinvar/210001 ^@ NM_001256071.2(RNF213):c.12343_12345delAAA (p.Lys4115del) http://identifiers.org/clinvar/210002 ^@ NM_001256071.2(RNF213):c.12711C>G (p.Asp4237Glu) http://identifiers.org/clinvar/210003 ^@ NM_001256071.2(RNF213):c.14195A>C (p.Lys4732Thr) http://identifiers.org/clinvar/210004 ^@ NM_001256071.2(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln) http://identifiers.org/clinvar/210005 ^@ NM_001256071.2(RNF213):c.15487G>A (p.Val5163Ile) http://identifiers.org/clinvar/210010 ^@ NM_001098512.2(PRKG1):c.1421A>T (p.Tyr474Phe) http://identifiers.org/clinvar/210009 ^@ NM_001098512.2(PRKG1):c.1997G>C (p.Gly666Ala) http://identifiers.org/clinvar/210037 ^@ NM_024531.4(SLC52A2):c.92G>C (p.Trp31Ser) http://identifiers.org/clinvar/210038 ^@ NM_024531.4(SLC52A2):c.383C>T (p.Ser128Leu) http://identifiers.org/clinvar/210039 ^@ NM_024531.4(SLC52A2):c.700C>T (p.Gln234Ter) http://identifiers.org/clinvar/210040 ^@ NM_024531.4(SLC52A2):c.865C>T (p.Leu289=) http://identifiers.org/clinvar/210041 ^@ NM_024531.4(SLC52A2):c.935T>C (p.Leu312Pro) http://identifiers.org/clinvar/210042 ^@ NM_024531.4(SLC52A2):c.1088C>T (p.Pro363Leu) http://identifiers.org/clinvar/210043 ^@ NM_024531.4(SLC52A2):c.1258G>A (p.Ala420Thr) http://identifiers.org/clinvar/210029 ^@ NM_033409.3(SLC52A3):c.1371C>G (p.Phe457Leu) http://identifiers.org/clinvar/210027 ^@ NM_033409.3(SLC52A3):c.1296C>A (p.Cys432Ter) http://identifiers.org/clinvar/210035 ^@ NM_033409.3(SLC52A3):c.1255G>A (p.Val419Met) http://identifiers.org/clinvar/210025 ^@ NM_033409.3(SLC52A3):c.1198-2A>C http://identifiers.org/clinvar/210024 ^@ NM_033409.3(SLC52A3):c.1048T>A (p.Leu350Met) http://identifiers.org/clinvar/210023 ^@ NM_033409.3(SLC52A3):c.989G>T (p.Gly330Val) http://identifiers.org/clinvar/210022 ^@ NM_033409.3(SLC52A3):c.955C>T (p.Pro319Ser) http://identifiers.org/clinvar/210021 ^@ NM_033409.3(SLC52A3):c.935C>T (p.Ala312Val) http://identifiers.org/clinvar/210020 ^@ NM_033409.3(SLC52A3):c.796C>T (p.Arg266Trp) http://identifiers.org/clinvar/210033 ^@ NM_033409.3(SLC52A3):c.671T>G (p.Phe224Cys) http://identifiers.org/clinvar/210019 ^@ NM_033409.3(SLC52A3):c.659C>A (p.Pro220His) http://identifiers.org/clinvar/210018 ^@ NM_033409.3(SLC52A3):c.639C>G (p.Tyr213Ter) http://identifiers.org/clinvar/210032 ^@ NM_033409.3(SLC52A3):c.634C>T (p.Arg212Cys) http://identifiers.org/clinvar/210031 ^@ NM_033409.3(SLC52A3):c.403A>G (p.Thr135Ala) http://identifiers.org/clinvar/210030 ^@ NM_033409.3(SLC52A3):c.374C>A (p.Thr125Asn) http://identifiers.org/clinvar/210016 ^@ NM_033409.3(SLC52A3):c.224T>C (p.Ile75Thr) http://identifiers.org/clinvar/210015 ^@ NM_033409.3(SLC52A3):c.211G>A (p.Glu71Lys) http://identifiers.org/clinvar/210014 ^@ NM_033409.3(SLC52A3):c.173T>A (p.Val58Asp) http://identifiers.org/clinvar/210013 ^@ NM_033409.3(SLC52A3):c.160G>A (p.Gly54Arg) http://identifiers.org/clinvar/210012 ^@ NM_033409.3(SLC52A3):c.62A>G (p.Asn21Ser) http://identifiers.org/clinvar/210011 ^@ NM_033409.3(SLC52A3):c.49T>C (p.Trp17Arg) http://identifiers.org/clinvar/210017 ^@ NM_033409.3:c.568-19_-18insCTGATTGAC http://identifiers.org/clinvar/210028 ^@ NM_033409.3:c.1325_1326delTG http://identifiers.org/clinvar/210034 ^@ NM_033409.3:c.1128-1129_insT http://identifiers.org/clinvar/210036 ^@ NM_033409.3:c.1294G>A http://identifiers.org/clinvar/210045 ^@ NM_000516.5(GNAS):c.602G>T (p.Arg201Leu) http://identifiers.org/clinvar/210046 ^@ NM_000516.5(GNAS):c.679C>A (p.Gln227Lys) http://identifiers.org/clinvar/210047 ^@ NM_000516.5(GNAS):c.680A>T (p.Gln227Leu) http://identifiers.org/clinvar/210048 ^@ NM_000516.5(GNAS):c.681G>T (p.Gln227His) http://identifiers.org/clinvar/210049 ^@ NM_032436.3(CHAMP1):c.1002G>A (p.Trp334Ter) http://identifiers.org/clinvar/210050 ^@ NM_032436.3(CHAMP1):c.1489C>T (p.Arg497Ter) http://identifiers.org/clinvar/210056 ^@ NM_003998.3(NFKB1):c.730+4A>G http://identifiers.org/clinvar/210057 ^@ NM_003998.3(NFKB1):c.835+2T>G http://identifiers.org/clinvar/210058 ^@ NM_003998.3(NFKB1):c.465dupA (p.Ala156Serfs) http://identifiers.org/clinvar/210059 ^@ NM_017662.4(TRPM6):c.3173A>G (p.Tyr1058Cys) http://identifiers.org/clinvar/210824 ^@ NM_001918.3(DBT):c.327C>T (p.Thr109=) http://identifiers.org/clinvar/210825 ^@ NM_001918.3(DBT):c.37A>G (p.Asn13Asp) http://identifiers.org/clinvar/210112 ^@ NM_198576.3(AGRN):c.67G>C (p.Val23Leu) http://identifiers.org/clinvar/210111 ^@ NM_198576.3(AGRN):c.526C>T (p.Leu176=) http://identifiers.org/clinvar/210106 ^@ NM_198576.3(AGRN):c.1993G>A (p.Glu665Lys) http://identifiers.org/clinvar/210107 ^@ NM_198576.3(AGRN):c.2473C>T (p.Arg825Cys) http://identifiers.org/clinvar/210108 ^@ NM_198576.3(AGRN):c.3732C>T (p.His1244=) http://identifiers.org/clinvar/210109 ^@ NM_198576.3(AGRN):c.3752-6C>T http://identifiers.org/clinvar/210110 ^@ NM_198576.3(AGRN):c.4116C>T (p.Ala1372=) http://identifiers.org/clinvar/211100 ^@ NM_013296.4(GPSM2):c.1909C>T (p.Arg637Trp) http://identifiers.org/clinvar/210137 ^@ NM_004037.7(AMPD2):c.385-4C>T http://identifiers.org/clinvar/210136 ^@ NM_004037.7(AMPD2):c.1404C>T (p.Tyr468=) http://identifiers.org/clinvar/210134 ^@ NM_006492.2(ALX3):c.748C>G (p.Pro250Ala) http://identifiers.org/clinvar/211216 ^@ NM_004980.4(KCND3):c.1034G>T (p.Gly345Val) http://identifiers.org/clinvar/212183 ^@ NM_003051.3(SLC16A1):c.1063G>A (p.Gly355Arg) http://identifiers.org/clinvar/212185 ^@ NM_003051.3(SLC16A1):c.762C>T (p.Asp254=) http://identifiers.org/clinvar/212184 ^@ NM_003051.3(SLC16A1):c.362-22_362-11delTATTTATTTATT http://identifiers.org/clinvar/210194 ^@ NM_006594.4(AP4B1):c.2035T>G (p.Trp679Gly) http://identifiers.org/clinvar/210193 ^@ NM_006594.4(AP4B1):c.1703G>A (p.Gly568Asp) http://identifiers.org/clinvar/210191 ^@ NM_006594.4(AP4B1):c.1111A>G (p.Ile371Val) http://identifiers.org/clinvar/210196 ^@ NM_006594.4(AP4B1):c.670C>T (p.Arg224Cys) http://identifiers.org/clinvar/210195 ^@ NM_006594.4(AP4B1):c.311_312delTGinsC (p.Leu104Profs) http://identifiers.org/clinvar/210192 ^@ NM_006594.4(AP4B1):c.114-10C>T http://identifiers.org/clinvar/211686 ^@ NM_002524.4(NRAS):c.317C>T (p.Ser106Leu) http://identifiers.org/clinvar/212156 ^@ NM_005850.4(SF3B4):c.1230_1249del20 (p.Pro411Thrfs) http://identifiers.org/clinvar/212155 ^@ NM_005850.4(SF3B4):c.1088-3C>G http://identifiers.org/clinvar/212154 ^@ NM_005850.4(SF3B4):c.1058C>A (p.Pro353His) http://identifiers.org/clinvar/212159 ^@ NM_005850.4(SF3B4):c.731_743delCACCCCCAGTGCC (p.Pro244Hisfs) http://identifiers.org/clinvar/212160 ^@ NM_005850.4(SF3B4):c.732A>C (p.Pro244=) http://identifiers.org/clinvar/212157 ^@ NM_005850.4(SF3B4):c.193G>T (p.Glu65Ter) http://identifiers.org/clinvar/212158 ^@ NM_005850.4(SF3B4):c.45_46delGT (p.Tyr16Argfs) http://identifiers.org/clinvar/211067 ^@ NM_020699.3(GATAD2B):c.1753A>G (p.Ile585Val) http://identifiers.org/clinvar/211066 ^@ NM_020699.3(GATAD2B):c.1469C>T (p.Ala490Val) http://identifiers.org/clinvar/211065 ^@ NM_020699.3(GATAD2B):c.1229C>G (p.Ala410Gly) http://identifiers.org/clinvar/211069 ^@ NM_020699.3(GATAD2B):c.981delG (p.Thr328Argfs) http://identifiers.org/clinvar/211068 ^@ NM_020699.3(GATAD2B):c.544C>T (p.Leu182=) http://identifiers.org/clinvar/212412 ^@ NM_152263.3(TPM3):c.734G>T (p.Arg245Ile) http://identifiers.org/clinvar/212413 ^@ NM_152263.3(TPM3):c.92A>C (p.Lys31Thr) http://identifiers.org/clinvar/211387 ^@ NM_005572.3(LMNA):c.1189C>T (p.Arg397Cys) http://identifiers.org/clinvar/211218 ^@ NM_002241.4(KCNJ10):c.76C>T (p.Arg26Ter) http://identifiers.org/clinvar/210381 ^@ NM_022089.3(ATP13A2):c.2859G>A (p.Thr953=) http://identifiers.org/clinvar/210380 ^@ NM_022089.3(ATP13A2):c.1352G>A (p.Arg451Gln) http://identifiers.org/clinvar/210379 ^@ NM_022089.3(ATP13A2):c.106-8G>A http://identifiers.org/clinvar/210340 ^@ NM_018136.4(ASPM):c.*158T>C http://identifiers.org/clinvar/210342 ^@ NM_018136.4(ASPM):c.*78C>G http://identifiers.org/clinvar/210341 ^@ NM_018136.4(ASPM):c.*60C>T http://identifiers.org/clinvar/210344 ^@ NM_018136.4(ASPM):c.10161+13_10161+16del http://identifiers.org/clinvar/210343 ^@ NM_018136.4(ASPM):c.10060C>T (p.Arg3354Ter) http://identifiers.org/clinvar/210362 ^@ NM_018136.4(ASPM):c.8987+43_8987+46del http://identifiers.org/clinvar/210361 ^@ NM_018136.4(ASPM):c.8683G>A (p.Ala2895Thr) http://identifiers.org/clinvar/210360 ^@ NM_018136.4(ASPM):c.7857dupA (p.Gln2620Thrfs) http://identifiers.org/clinvar/210359 ^@ NM_018136.4(ASPM):c.7308dupT (p.Val2437Cysfs) http://identifiers.org/clinvar/210358 ^@ NM_018136.4(ASPM):c.5532T>G (p.Tyr1844Ter) http://identifiers.org/clinvar/210357 ^@ NM_018136.4(ASPM):c.4436A>G (p.Lys1479Arg) http://identifiers.org/clinvar/210356 ^@ NM_018136.4(ASPM):c.4214G>A (p.Arg1405His) http://identifiers.org/clinvar/210355 ^@ NM_018136.4(ASPM):c.3960_3961insA (p.Val1321Serfs) http://identifiers.org/clinvar/210354 ^@ NM_018136.4(ASPM):c.3776G>A (p.Arg1259Lys) http://identifiers.org/clinvar/210353 ^@ NM_018136.4(ASPM):c.3390+3_3390+6del http://identifiers.org/clinvar/210352 ^@ NM_018136.4(ASPM):c.3320A>G (p.Glu1107Gly) http://identifiers.org/clinvar/210351 ^@ NM_018136.4(ASPM):c.3100A>G (p.Lys1034Glu) http://identifiers.org/clinvar/210350 ^@ NM_018136.4(ASPM):c.2936dupT (p.Arg980Alafs) http://identifiers.org/clinvar/210349 ^@ NM_018136.4(ASPM):c.1995C>T (p.Ser665=) http://identifiers.org/clinvar/210348 ^@ NM_018136.4(ASPM):c.1840G>C (p.Val614Leu) http://identifiers.org/clinvar/210347 ^@ NM_018136.4(ASPM):c.1385A>G (p.Tyr462Cys) http://identifiers.org/clinvar/210346 ^@ NM_018136.4(ASPM):c.1192A>G (p.Lys398Glu) http://identifiers.org/clinvar/210345 ^@ NM_018136.4(ASPM):c.1174T>A (p.Ser392Thr) http://identifiers.org/clinvar/210363 ^@ NM_018136.4(ASPM):c.933C>G (p.Ser311Arg) http://identifiers.org/clinvar/212360 ^@ NM_001146261.2(SYT14):c.810_812delAGA (p.Glu270del) http://identifiers.org/clinvar/211989 ^@ NM_012414.3(RAB3GAP2):c.4060A>G (p.Ile1354Val) http://identifiers.org/clinvar/211988 ^@ NM_012414.3(RAB3GAP2):c.3924G>C (p.Thr1308=) http://identifiers.org/clinvar/211987 ^@ NM_012414.3(RAB3GAP2):c.3525C>T (p.Thr1175=) http://identifiers.org/clinvar/211986 ^@ NM_012414.3(RAB3GAP2):c.2648C>T (p.Thr883Ile) http://identifiers.org/clinvar/211985 ^@ NM_012414.3(RAB3GAP2):c.2522C>T (p.Ala841Val) http://identifiers.org/clinvar/211984 ^@ NM_012414.3(RAB3GAP2):c.2008C>G (p.Leu670Val) http://identifiers.org/clinvar/211991 ^@ NM_012414.3(RAB3GAP2):c.504C>T (p.Tyr168=) http://identifiers.org/clinvar/211990 ^@ NM_012414.3(RAB3GAP2):c.465C>T (p.Cys155=) http://identifiers.org/clinvar/210096 ^@ NM_020247.4(COQ8A):c.1334_1335delCA (p.Thr445Argfs) http://identifiers.org/clinvar/210097 ^@ NM_020247.4(COQ8A):c.1532C>T (p.Thr511Met) http://identifiers.org/clinvar/210091 ^@ NM_001100.3(ACTA1):c.867C>T (p.Ile289=) http://identifiers.org/clinvar/210090 ^@ NM_001100.3(ACTA1):c.246T>C (p.Asp82=) http://identifiers.org/clinvar/211090 ^@ NM_014236.3(GNPAT):c.555A>T (p.Ile185=) http://identifiers.org/clinvar/211091 ^@ NM_014236.3(GNPAT):c.569-11del http://identifiers.org/clinvar/210513 ^@ NM_152490.4(B3GALNT2):c.439G>C (p.Val147Leu) http://identifiers.org/clinvar/211414 ^@ NM_000081.3(LYST):c.9017A>G (p.Lys3006Arg) http://identifiers.org/clinvar/211413 ^@ NM_000081.3(LYST):c.8151T>C (p.Ile2717=) http://identifiers.org/clinvar/211412 ^@ NM_000081.3(LYST):c.7467C>T (p.Pro2489=) http://identifiers.org/clinvar/211411 ^@ NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) http://identifiers.org/clinvar/211410 ^@ NM_000081.3(LYST):c.5945C>T (p.Thr1982Ile) http://identifiers.org/clinvar/211409 ^@ NM_000081.3(LYST):c.5461-3dupT http://identifiers.org/clinvar/211407 ^@ NM_000081.3(LYST):c.2363+4T>C http://identifiers.org/clinvar/211406 ^@ NM_000081.3(LYST):c.1848C>T (p.Asn616=) http://identifiers.org/clinvar/211408 ^@ NM_000081.3(LYST):c.281C>T (p.Thr94Ile) http://identifiers.org/clinvar/212139 ^@ NM_006642.3(SDCCAG8):c.221-2A>G http://identifiers.org/clinvar/212140 ^@ NM_006642.3(SDCCAG8):c.481C>T (p.Gln161Ter) http://identifiers.org/clinvar/212141 ^@ NM_006642.3(SDCCAG8):c.567G>A (p.Trp189Ter) http://identifiers.org/clinvar/212138 ^@ NM_006642.3(SDCCAG8):c.1501G>C (p.Asp501His) http://identifiers.org/clinvar/212148 ^@ NM_020451.2(SELENON):c.415G>A (p.Ala139Thr) http://identifiers.org/clinvar/212149 ^@ NM_020451.2(SELENON):c.827_829dupCCT (p.Ala276_Cys277insSer) http://identifiers.org/clinvar/212146 ^@ NM_020451.2(SELENON):c.1092+6C>G http://identifiers.org/clinvar/212147 ^@ NM_020451.2(SELENON):c.1350C>G (p.Ile450Met) http://identifiers.org/clinvar/210259 ^@ NM_006015.4(ARID1A):c.394delG (p.Val132Trpfs) http://identifiers.org/clinvar/210263 ^@ NM_006015.4(ARID1A):c.735_737dupGGC (p.Ala247_Gly248insAla) http://identifiers.org/clinvar/210257 ^@ NM_006015.4(ARID1A):c.1329C>T (p.Gly443=) http://identifiers.org/clinvar/210260 ^@ NM_006015.4(ARID1A):c.5138T>C (p.Leu1713Pro) http://identifiers.org/clinvar/210261 ^@ NM_006015.4(ARID1A):c.5779G>C (p.Ala1927Pro) http://identifiers.org/clinvar/210262 ^@ NM_006015.4(ARID1A):c.6586C>T (p.Leu2196=) http://identifiers.org/clinvar/211685 ^@ NM_021969.2(NR0B2):c.532G>A (p.Asp178Asn) http://identifiers.org/clinvar/210791 ^@ NM_000760.3(CSF3R):c.1319G>A (p.Arg440Gln) http://identifiers.org/clinvar/212203 ^@ NM_006516.2(SLC2A1):c.1395C>T (p.Ser465=) http://identifiers.org/clinvar/212202 ^@ NM_006516.2(SLC2A1):c.1034C>T (p.Ala345Val) http://identifiers.org/clinvar/212201 ^@ NM_006516.2(SLC2A1):c.1023C>G (p.Leu341=) http://identifiers.org/clinvar/212204 ^@ NM_006516.2(SLC2A1):c.229A>G (p.Met77Val) http://identifiers.org/clinvar/211522 ^@ NM_005373.2(MPL):c.210G>A (p.Pro70=) http://identifiers.org/clinvar/212362 ^@ NM_015284.3(SZT2):c.1272A>G (p.Gln424=) http://identifiers.org/clinvar/212363 ^@ NM_015284.3(SZT2):c.4476C>T (p.Gly1492=) http://identifiers.org/clinvar/212364 ^@ NM_015284.3(SZT2):c.5145A>G (p.Glu1715=) http://identifiers.org/clinvar/212365 ^@ NM_015284.3(SZT2):c.5601G>T (p.Leu1867=) http://identifiers.org/clinvar/212366 ^@ NM_015284.3(SZT2):c.6209A>T (p.Tyr2070Phe) http://identifiers.org/clinvar/212367 ^@ NM_015284.3(SZT2):c.8745+8G>A http://identifiers.org/clinvar/212317 ^@ NM_174963.3(ST3GAL3):c.375C>T (p.Ser125=) http://identifiers.org/clinvar/212318 ^@ NM_174968.3(ST3GAL3):c.477A>G (p.Pro159=) http://identifiers.org/clinvar/212319 ^@ NM_174963.3(ST3GAL3):c.825C>T (p.Arg275=) http://identifiers.org/clinvar/212311 ^@ NM_174963.3(ST3GAL3):c.1047C>T (p.Ala349=) http://identifiers.org/clinvar/212312 ^@ NM_174963.3(ST3GAL3):c.1152C>T (p.Asp384=) http://identifiers.org/clinvar/212313 ^@ NM_174963.3(ST3GAL3):c.1197C>T (p.Asn399=) http://identifiers.org/clinvar/212314 ^@ NM_174963.3(ST3GAL3):c.1245+8del http://identifiers.org/clinvar/212315 ^@ NM_174963.3(ST3GAL3):c.1298A>G (p.Lys433Arg) http://identifiers.org/clinvar/212316 ^@ NM_174963.3(ST3GAL3):c.1304G>A (p.Arg435His) http://identifiers.org/clinvar/210933 ^@ NM_020365.4(EIF2B3):c.833A>G (p.Tyr278Cys) http://identifiers.org/clinvar/211940 ^@ NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) http://identifiers.org/clinvar/211939 ^@ NM_017739.3(POMGNT1):c.1413+1G>C http://identifiers.org/clinvar/211938 ^@ NM_017739.3(POMGNT1):c.1285-6C>T http://identifiers.org/clinvar/211937 ^@ NM_017739.3(POMGNT1):c.1142A>G (p.Asn381Ser) http://identifiers.org/clinvar/211941 ^@ NM_017739.3(POMGNT1):c.38T>C (p.Phe13Ser) http://identifiers.org/clinvar/212323 ^@ NM_003035.2(STIL):c.3578C>T (p.Pro1193Leu) http://identifiers.org/clinvar/211800 ^@ NM_004153.3(ORC1):c.2571G>A (p.Ala857=) http://identifiers.org/clinvar/211799 ^@ NM_004153.3(ORC1):c.1517G>A (p.Cys506Tyr) http://identifiers.org/clinvar/211798 ^@ NM_004153.3(ORC1):c.1318T>C (p.Ser440Pro) http://identifiers.org/clinvar/211797 ^@ NM_004153.3(ORC1):c.1186C>T (p.Arg396Trp) http://identifiers.org/clinvar/211796 ^@ NM_004153.3(ORC1):c.1083-4G>C http://identifiers.org/clinvar/211803 ^@ NM_004153.3(ORC1):c.943C>T (p.Arg315Cys) http://identifiers.org/clinvar/211802 ^@ NM_004153.3(ORC1):c.703A>G (p.Lys235Glu) http://identifiers.org/clinvar/211801 ^@ NM_004153.3(ORC1):c.403-7A>C http://identifiers.org/clinvar/210120 ^@ NM_013339.3(ALG6):c.536T>G (p.Leu179Arg) http://identifiers.org/clinvar/210121 ^@ NM_013339.3(ALG6):c.950T>C (p.Ile317Thr) http://identifiers.org/clinvar/210119 ^@ NM_013339.3(ALG6):c.1314T>C (p.Ile438=) http://identifiers.org/clinvar/210560 ^@ NM_015215.3(CAMTA1):c.2568G>A (p.Ser856=) http://identifiers.org/clinvar/211078 ^@ NM_005263.3(GFI1):c.465C>T (p.Cys155=) http://identifiers.org/clinvar/211080 ^@ NM_005270.4(GLI2):c.2304G>A (p.Leu768=) http://identifiers.org/clinvar/210527 ^@ NM_139343.2(BIN1):c.1263+11C>T http://identifiers.org/clinvar/211982 ^@ NM_012233.2(RAB3GAP1):c.301A>G (p.Met101Val) http://identifiers.org/clinvar/211983 ^@ NM_012233.2(RAB3GAP1):c.816C>T (p.Cys272=) http://identifiers.org/clinvar/211978 ^@ NM_012233.2(RAB3GAP1):c.1006C>T (p.Arg336Cys) http://identifiers.org/clinvar/211979 ^@ NM_012233.2(RAB3GAP1):c.2642T>G (p.Leu881Ter) http://identifiers.org/clinvar/211980 ^@ NM_012233.2(RAB3GAP1):c.2676G>T (p.Arg892Ser) http://identifiers.org/clinvar/211981 ^@ NM_012233.2(RAB3GAP1):c.2810G>A (p.Arg937Gln) http://identifiers.org/clinvar/212636 ^@ NM_014795.3(ZEB2):c.3137C>A (p.Ser1046Ter) http://identifiers.org/clinvar/212635 ^@ NM_014795.3(ZEB2):c.2894T>A (p.Leu965Ter) http://identifiers.org/clinvar/212634 ^@ NM_014795.3(ZEB2):c.2404_2407delACTC (p.Thr802Glnfs) http://identifiers.org/clinvar/212633 ^@ NM_014795.3(ZEB2):c.2061delT (p.Phe687Leufs) http://identifiers.org/clinvar/212632 ^@ NM_014795.3(ZEB2):c.1106T>A (p.Leu369Ter) http://identifiers.org/clinvar/212638 ^@ NM_014795.3(ZEB2):c.808-4A>G http://identifiers.org/clinvar/212637 ^@ NM_014795.3(ZEB2):c.674C>A (p.Ser225Ter) http://identifiers.org/clinvar/211805 ^@ NM_002552.4(ORC4):c.1226delC (p.Thr409Ilefs) http://identifiers.org/clinvar/211804 ^@ NM_002552.4(ORC4):c.1136T>C (p.Leu379Ser) http://identifiers.org/clinvar/211806 ^@ NM_002552.4(ORC4):c.353T>C (p.Leu118Ser) http://identifiers.org/clinvar/211437 ^@ NM_018328.4(MBD5):c.267T>C (p.Asp89=) http://identifiers.org/clinvar/211441 ^@ NM_018328.4(MBD5):c.908T>G (p.Leu303Trp) http://identifiers.org/clinvar/211435 ^@ NM_018328.4(MBD5):c.1141T>C (p.Phe381Leu) http://identifiers.org/clinvar/211436 ^@ NM_018328.4(MBD5):c.2173G>T (p.Ala725Ser) http://identifiers.org/clinvar/211438 ^@ NM_018328.4(MBD5):c.2789A>C (p.Gln930Pro) http://identifiers.org/clinvar/211439 ^@ NM_018328.4(MBD5):c.3972T>C (p.Ser1324=) http://identifiers.org/clinvar/211440 ^@ NM_018328.4(MBD5):c.4158C>T (p.Gly1386=) http://identifiers.org/clinvar/211585 ^@ NM_004543.4(NEB):c.18546+10_18546+11del http://identifiers.org/clinvar/211584 ^@ NM_004543.4(NEB):c.14995C>A (p.Leu4999Ile) http://identifiers.org/clinvar/211583 ^@ NM_001271208.1(NEB):c.18597delA (p.Tyr6200Metfs) http://identifiers.org/clinvar/211590 ^@ NM_004543.4(NEB):c.5905T>C (p.Tyr1969His) http://identifiers.org/clinvar/211589 ^@ NM_004543.4(NEB):c.4664G>A (p.Arg1555Lys) http://identifiers.org/clinvar/211588 ^@ NM_004543.4(NEB):c.3774+1G>A http://identifiers.org/clinvar/211587 ^@ NM_004543.4(NEB):c.3593A>G (p.Asn1198Ser) http://identifiers.org/clinvar/211586 ^@ NM_004543.4(NEB):c.2211+5G>T http://identifiers.org/clinvar/210558 ^@ NM_000726.4(CACNB4):c.50C>G (p.Ser17Cys) http://identifiers.org/clinvar/212132 ^@ NM_021007.2(SCN2A):c.960T>C (p.Ile320=) http://identifiers.org/clinvar/212121 ^@ NM_021007.2(SCN2A):c.1578G>A (p.Ser526=) http://identifiers.org/clinvar/212122 ^@ NM_021007.2(SCN2A):c.1725G>A (p.Ala575=) http://identifiers.org/clinvar/212123 ^@ NM_021007.2(SCN2A):c.1966C>T (p.Leu656=) http://identifiers.org/clinvar/212124 ^@ NM_021007.2(SCN2A):c.2563-4C>A http://identifiers.org/clinvar/212125 ^@ NM_021007.2(SCN2A):c.2567G>A (p.Arg856Gln) http://identifiers.org/clinvar/212126 ^@ NM_021007.2(SCN2A):c.2673C>T (p.Ile891=) http://identifiers.org/clinvar/212127 ^@ NM_021007.2(SCN2A):c.3598A>G (p.Thr1200Ala) http://identifiers.org/clinvar/212128 ^@ NM_021007.2(SCN2A):c.4552-9T>C http://identifiers.org/clinvar/212129 ^@ NM_021007.2(SCN2A):c.4841T>C (p.Leu1614Pro) http://identifiers.org/clinvar/212130 ^@ NM_021007.2(SCN2A):c.5397T>C (p.Tyr1799=) http://identifiers.org/clinvar/212131 ^@ NM_021007.2(SCN2A):c.5468A>C (p.Asp1823Ala) http://identifiers.org/clinvar/212119 ^@ NM_001165963.1(SCN1A):c.5336A>G (p.Asn1779Ser) http://identifiers.org/clinvar/212118 ^@ NM_001165963.1(SCN1A):c.3165C>T (p.Asn1055=) http://identifiers.org/clinvar/212117 ^@ NM_001165963.1(SCN1A):c.1410C>T (p.Ser470=) http://identifiers.org/clinvar/212120 ^@ NM_001165963.1(SCN1A):c.719T>C (p.Leu240Pro) http://identifiers.org/clinvar/212137 ^@ NM_002977.3(SCN9A):c.4115A>G (p.Lys1372Arg) http://identifiers.org/clinvar/211393 ^@ NM_004525.2(LRP2):c.13685T>C (p.Val4562Ala) http://identifiers.org/clinvar/211392 ^@ NM_004525.2(LRP2):c.13610A>C (p.Gln4537Pro) http://identifiers.org/clinvar/211391 ^@ NM_004525.2(LRP2):c.13139delC (p.Pro4380Hisfs) http://identifiers.org/clinvar/211390 ^@ NM_004525.2(LRP2):c.12725A>G (p.Asp4242Gly) http://identifiers.org/clinvar/211389 ^@ NM_004525.2(LRP2):c.12296-4G>A http://identifiers.org/clinvar/211403 ^@ NM_004525.2(LRP2):c.8892G>A (p.Arg2964=) http://identifiers.org/clinvar/211402 ^@ NM_004525.2(LRP2):c.8169C>T (p.Asn2723=) http://identifiers.org/clinvar/211401 ^@ NM_004525.2(LRP2):c.7715+3A>T http://identifiers.org/clinvar/211400 ^@ NM_004525.2(LRP2):c.6442C>T (p.Arg2148Trp) http://identifiers.org/clinvar/211399 ^@ NM_004525.2(LRP2):c.5209C>T (p.Leu1737Phe) http://identifiers.org/clinvar/211398 ^@ NM_004525.2(LRP2):c.4351G>T (p.Val1451Phe) http://identifiers.org/clinvar/211396 ^@ NM_004525.2(LRP2):c.3973T>C (p.Cys1325Arg) http://identifiers.org/clinvar/211395 ^@ NM_004525.2(LRP2):c.3110G>A (p.Arg1037Lys) http://identifiers.org/clinvar/211394 ^@ NM_004525.2(LRP2):c.2485C>T (p.Arg829Trp) http://identifiers.org/clinvar/211388 ^@ NM_004525.2(LRP2):c.1018C>G (p.His340Asp) http://identifiers.org/clinvar/211404 ^@ NM_004525.2(LRP2):c.987G>A (p.Ala329=) http://identifiers.org/clinvar/211397 ^@ NM_004525.2(LRP2):c.39C>T (p.Leu13=) http://identifiers.org/clinvar/210728 ^@ NM_000079.3(CHRNA1):c.643G>A (p.Asp215Asn) http://identifiers.org/clinvar/212459 ^@ NM_133378.4(TTN):c.100024G>A (p.Glu33342Lys) http://identifiers.org/clinvar/212486 ^@ NM_133378.4(TTN):c.95427C>T (p.Gly31809=) http://identifiers.org/clinvar/212485 ^@ NM_133378.4(TTN):c.93909G>A (p.Arg31303=) http://identifiers.org/clinvar/212484 ^@ NM_133378.4(TTN):c.91877C>T (p.Pro30626Leu) http://identifiers.org/clinvar/212483 ^@ NM_133378.4(TTN):c.87746T>C (p.Val29249Ala) http://identifiers.org/clinvar/212482 ^@ NM_001267550.2(TTN):c.87619_87621delGAA (p.Glu29207del) http://identifiers.org/clinvar/212480 ^@ NM_133378.4(TTN):c.66987A>G (p.Ser22329=) http://identifiers.org/clinvar/212479 ^@ NM_133378.4(TTN):c.66290C>T (p.Thr22097Met) http://identifiers.org/clinvar/212478 ^@ NM_133378.4(TTN):c.55481T>C (p.Ile18494Thr) http://identifiers.org/clinvar/212476 ^@ NM_133378.4(TTN):c.51240T>G (p.Cys17080Trp) http://identifiers.org/clinvar/212475 ^@ NM_133378.4(TTN):c.50368C>T (p.Arg16790Cys) http://identifiers.org/clinvar/212474 ^@ NM_133378.4(TTN):c.49369G>A (p.Val16457Ile) http://identifiers.org/clinvar/212473 ^@ NM_133378.4(TTN):c.49259-3C>T http://identifiers.org/clinvar/212472 ^@ NM_133378.4(TTN):c.47109T>G (p.Phe15703Leu) http://identifiers.org/clinvar/212471 ^@ NM_133378.4(TTN):c.45509A>T (p.Asp15170Val) http://identifiers.org/clinvar/212470 ^@ NM_133378.4(TTN):c.44183G>A (p.Arg14728His) http://identifiers.org/clinvar/212469 ^@ NM_133378.4(TTN):c.40630C>G (p.Leu13544Val) http://identifiers.org/clinvar/212468 ^@ NM_001267550.2(TTN):c.42486_42489delTTGT (p.Cys14163Asnfs) http://identifiers.org/clinvar/212466 ^@ NM_133378.4(TTN):c.30909A>C (p.Lys10303Asn) http://identifiers.org/clinvar/212465 ^@ NM_133378.4(TTN):c.25665C>T (p.Gly8555=) http://identifiers.org/clinvar/212464 ^@ NM_133378.4(TTN):c.25022-9C>T http://identifiers.org/clinvar/212463 ^@ NM_001267550.2(TTN):c.23903_23904delGCinsA (p.Gly7968Glufs) http://identifiers.org/clinvar/212462 ^@ NM_133378.4(TTN):c.16623G>A (p.Ser5541=) http://identifiers.org/clinvar/212461 ^@ NM_133378.4(TTN):c.13495C>T (p.Arg4499Trp) http://identifiers.org/clinvar/212460 ^@ NM_133378.4(TTN):c.10182A>G (p.Gln3394=) http://identifiers.org/clinvar/212481 ^@ NM_133378.4(TTN):c.7570A>T (p.Thr2524Ser) http://identifiers.org/clinvar/212477 ^@ NM_133378.4(TTN):c.5397T>G (p.Ser1799Arg) http://identifiers.org/clinvar/212467 ^@ NM_133378.4(TTN):c.3475C>A (p.Arg1159Ser) http://identifiers.org/clinvar/212590 ^@ NM_001006657.1(WDR35):c.2099G>A (p.Arg700His) http://identifiers.org/clinvar/212589 ^@ NM_001006657.1(WDR35):c.1468A>G (p.Met490Val) http://identifiers.org/clinvar/212588 ^@ NM_001006657.1(WDR35):c.1409G>A (p.Arg470Gln) http://identifiers.org/clinvar/212405 ^@ NM_001044385.2(TMEM237):c.1065C>G (p.Leu355=) http://identifiers.org/clinvar/210222 ^@ NM_000384.2(APOB):c.13025delC (p.Pro4342Hisfs) http://identifiers.org/clinvar/210758 ^@ NM_001875.4(CPS1):c.3626T>C (p.Met1209Thr) http://identifiers.org/clinvar/211594 ^@ NM_024782.2(NHEJ1):c.258C>T (p.Asp86=) http://identifiers.org/clinvar/212194 ^@ NM_025243.3(SLC19A3):c.544G>A (p.Val182Met) http://identifiers.org/clinvar/212193 ^@ NM_025243.3(SLC19A3):c.187T>C (p.Tyr63His) http://identifiers.org/clinvar/210909 ^@ NM_004826.3(ECEL1):c.2229-7A>C http://identifiers.org/clinvar/210908 ^@ NM_004826.3(ECEL1):c.1656G>A (p.Lys552=) http://identifiers.org/clinvar/210907 ^@ NM_004826.3(ECEL1):c.1507-9G>A http://identifiers.org/clinvar/210910 ^@ NM_004826.3(ECEL1):c.997C>T (p.Arg333Ter) http://identifiers.org/clinvar/210730 ^@ NM_000751.2(CHRND):c.932+5G>A http://identifiers.org/clinvar/210729 ^@ NM_000751.2(CHRND):c.1371+7G>T http://identifiers.org/clinvar/212544 ^@ NM_000463.2(UGT1A1):c.238_239insGTAC (p.Pro80Argfs) http://identifiers.org/clinvar/212545 ^@ NM_000463.2(UGT1A1):c.722_723delAG (p.Glu241Glyfs) http://identifiers.org/clinvar/212543 ^@ NM_000463.2(UGT1A1):c.1091C>T (p.Pro364Leu) http://identifiers.org/clinvar/210753 ^@ NM_004369.3(COL6A3):c.7359G>A (p.Glu2453=) http://identifiers.org/clinvar/210752 ^@ NM_004369.3(COL6A3):c.6181C>T (p.Arg2061Ter) http://identifiers.org/clinvar/210751 ^@ NM_004369.3(COL6A3):c.4888C>T (p.Pro1630Ser) http://identifiers.org/clinvar/211295 ^@ NM_004321.7(KIF1A):c.5019C>T (p.Ala1673=) http://identifiers.org/clinvar/211294 ^@ NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=) http://identifiers.org/clinvar/211293 ^@ NM_004321.7(KIF1A):c.4718+1G>C http://identifiers.org/clinvar/211292 ^@ NM_004321.7(KIF1A):c.4624G>A (p.Asp1542Asn) http://identifiers.org/clinvar/211291 ^@ NM_004321.7(KIF1A):c.4572G>A (p.Pro1524=) http://identifiers.org/clinvar/211290 ^@ NM_004321.7(KIF1A):c.4478C>T (p.Ser1493Leu) http://identifiers.org/clinvar/211289 ^@ NM_004321.7(KIF1A):c.4335C>T (p.Asn1445=) http://identifiers.org/clinvar/211288 ^@ NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) http://identifiers.org/clinvar/211287 ^@ NM_004321.7(KIF1A):c.4282G>A (p.Ala1428Thr) http://identifiers.org/clinvar/211286 ^@ NM_004321.7(KIF1A):c.3595G>A (p.Val1199Met) http://identifiers.org/clinvar/211285 ^@ NM_004321.7(KIF1A):c.3165C>T (p.Ile1055=) http://identifiers.org/clinvar/211284 ^@ NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) http://identifiers.org/clinvar/211283 ^@ NM_004321.7(KIF1A):c.2943C>T (p.Ala981=) http://identifiers.org/clinvar/211281 ^@ NM_004321.7(KIF1A):c.2655G>C (p.Val885=) http://identifiers.org/clinvar/211280 ^@ NM_004321.7(KIF1A):c.2595C>G (p.Pro865=) http://identifiers.org/clinvar/211282 ^@ NM_001244008.1(KIF1A):c.2748_2753delGGAGGA (p.Glu916_Glu917del) http://identifiers.org/clinvar/211279 ^@ NM_004321.7(KIF1A):c.2505C>T (p.Thr835=) http://identifiers.org/clinvar/211278 ^@ NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) http://identifiers.org/clinvar/211277 ^@ NM_004321.7(KIF1A):c.2105G>A (p.Arg702Gln) http://identifiers.org/clinvar/211276 ^@ NM_004321.7(KIF1A):c.1835C>T (p.Thr612Met) http://identifiers.org/clinvar/211300 ^@ NM_004321.7(KIF1A):c.883-3C>T http://identifiers.org/clinvar/211299 ^@ NM_004321.7(KIF1A):c.849C>T (p.Ser283=) http://identifiers.org/clinvar/211298 ^@ NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) http://identifiers.org/clinvar/211297 ^@ NM_004321.7(KIF1A):c.666C>T (p.Asn222=) http://identifiers.org/clinvar/211296 ^@ NM_004321.7(KIF1A):c.609-8C>T http://identifiers.org/clinvar/210818 ^@ NM_152783.4(D2HGDH):c.281G>C (p.Arg94Pro) http://identifiers.org/clinvar/210819 ^@ NM_152783.4(D2HGDH):c.327G>A (p.Ser109=) http://identifiers.org/clinvar/210820 ^@ NM_152783.4(D2HGDH):c.821C>T (p.Pro274Leu) http://identifiers.org/clinvar/210821 ^@ NM_152783.4(D2HGDH):c.896G>A (p.Cys299Tyr) http://identifiers.org/clinvar/210822 ^@ NM_152783.4(D2HGDH):c.921G>T (p.Leu307=) http://identifiers.org/clinvar/210809 ^@ NM_152783.4(D2HGDH):c.1027delT (p.Ser343Glnfs) http://identifiers.org/clinvar/210810 ^@ NM_152783.4(D2HGDH):c.1063G>A (p.Gly355Ser) http://identifiers.org/clinvar/210811 ^@ NM_152783.4(D2HGDH):c.1105G>A (p.Asp369Asn) http://identifiers.org/clinvar/210812 ^@ NM_152783.4(D2HGDH):c.1122C>T (p.Thr374=) http://identifiers.org/clinvar/210813 ^@ NM_152783.4(D2HGDH):c.1140+8G>A http://identifiers.org/clinvar/210814 ^@ NM_152783.4(D2HGDH):c.1272G>A (p.Pro424=) http://identifiers.org/clinvar/210815 ^@ NM_152783.4(D2HGDH):c.1306+2T>C http://identifiers.org/clinvar/210816 ^@ NM_152783.4(D2HGDH):c.1413C>T (p.Ser471=) http://identifiers.org/clinvar/210817 ^@ NM_152783.4(D2HGDH):c.1535A>G (p.Asn512Ser) http://identifiers.org/clinvar/211936 ^@ NM_001035256.2(POMC):c.641A>G (p.Glu214Gly) http://identifiers.org/clinvar/211935 ^@ NM_001035256.2(POMC):c.289_297dupAGCAGCGGC (p.Gly99_Ala100insSerSerGly) http://identifiers.org/clinvar/212290 ^@ NM_014946.3(SPAST):c.1735A>C (p.Asn579His) http://identifiers.org/clinvar/212291 ^@ NM_014946.3(SPAST):c.1813A>G (p.Ile605Val) http://identifiers.org/clinvar/212072 ^@ NM_001011.3(RPS7):c.148-79G>A http://identifiers.org/clinvar/212289 ^@ NM_005633.3(SOS1):c.*2244_*2245dupTA http://identifiers.org/clinvar/212288 ^@ NM_005633.3(SOS1):c.*1606delT http://identifiers.org/clinvar/211693 ^@ NM_001135659.2(NRXN1):c.4368G>A (p.Pro1456=) http://identifiers.org/clinvar/211692 ^@ NM_001135659.2(NRXN1):c.4287C>G (p.Pro1429=) http://identifiers.org/clinvar/211691 ^@ NM_001135659.2(NRXN1):c.3736A>G (p.Ile1246Val) http://identifiers.org/clinvar/211690 ^@ NM_001135659.2(NRXN1):c.2657A>C (p.Asn886Thr) http://identifiers.org/clinvar/211689 ^@ NM_001135659.2(NRXN1):c.2195G>A (p.Arg732Lys) http://identifiers.org/clinvar/211688 ^@ NM_001135659.2(NRXN1):c.1869C>T (p.Asp623=) http://identifiers.org/clinvar/211687 ^@ NM_001135659.2(NRXN1):c.1544A>C (p.Asn515Thr) http://identifiers.org/clinvar/211695 ^@ NM_001135659.2(NRXN1):c.773-9C>G http://identifiers.org/clinvar/211694 ^@ NM_001135659.2(NRXN1):c.772+9del http://identifiers.org/clinvar/210988 ^@ NM_018062.3(FANCL):c.1096_1099dupATTA (p.Thr367Asnfs) http://identifiers.org/clinvar/210899 ^@ NM_003494.3(DYSF):c.3423G>A (p.Thr1141=) http://identifiers.org/clinvar/210900 ^@ NM_003494.3(DYSF):c.4748A>G (p.Tyr1583Cys) http://identifiers.org/clinvar/210131 ^@ NM_015120.4(ALMS1):c.80_88delAGGAGGAGG (p.Glu27_Glu29del) http://identifiers.org/clinvar/210123 ^@ NM_015120.4(ALMS1):c.1571_1572insTTC (p.Ser525_Pro526insSer) http://identifiers.org/clinvar/210124 ^@ NM_015120.4(ALMS1):c.1577_1579delCTC (p.Pro526del) http://identifiers.org/clinvar/210125 ^@ NM_015120.4(ALMS1):c.1870T>C (p.Ser624Pro) http://identifiers.org/clinvar/210126 ^@ NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) http://identifiers.org/clinvar/210127 ^@ NM_015120.4(ALMS1):c.4156dupA (p.Thr1386Asnfs) http://identifiers.org/clinvar/210128 ^@ NM_015120.4(ALMS1):c.5248A>G (p.Thr1750Ala) http://identifiers.org/clinvar/254215 ^@ NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) http://identifiers.org/clinvar/210129 ^@ NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) http://identifiers.org/clinvar/210132 ^@ NM_015120.4(ALMS1):c.8456C>T (p.Thr2819Ile) http://identifiers.org/clinvar/210122 ^@ NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter) http://identifiers.org/clinvar/212322 ^@ NM_201647.2(STAMBP):c.997T>G (p.Trp333Gly) http://identifiers.org/clinvar/212320 ^@ NM_201647.2(STAMBP):c.1119-6T>G http://identifiers.org/clinvar/212321 ^@ NM_201647.2(STAMBP):c.1172G>C (p.Arg391Pro) http://identifiers.org/clinvar/212328 ^@ NM_003849.3(SUCLG1):c.507delG (p.Asn171Thrfs) http://identifiers.org/clinvar/210932 ^@ NM_004836.6(EIF2AK3):c.1564_1565delTG (p.Trp522Glufs) http://identifiers.org/clinvar/210978 ^@ NM_033084.4(FANCD2):c.1947+69del http://identifiers.org/clinvar/210979 ^@ NM_033084.4(FANCD2):c.2021+31C>T http://identifiers.org/clinvar/210980 ^@ NM_033084.4(FANCD2):c.2801C>G (p.Ser934Cys) http://identifiers.org/clinvar/211954 ^@ NM_015869.4(PPARG):c.669G>A (p.Ala223=) http://identifiers.org/clinvar/212443 ^@ NM_025265.3(TSEN2):c.141_143delCAA (p.Asn48del) http://identifiers.org/clinvar/212444 ^@ NM_025265.3(TSEN2):c.431A>G (p.Asn144Ser) http://identifiers.org/clinvar/212445 ^@ NM_025265.3(TSEN2):c.872A>G (p.Tyr291Cys) http://identifiers.org/clinvar/212441 ^@ NM_025265.3(TSEN2):c.1063G>T (p.Val355Leu) http://identifiers.org/clinvar/212442 ^@ NM_025265.3(TSEN2):c.1337A>G (p.Gln446Arg) http://identifiers.org/clinvar/212549 ^@ NM_144639.2(UROC1):c.40C>T (p.Arg14Trp) http://identifiers.org/clinvar/211061 ^@ NM_032638.4(GATA2):c.1054T>C (p.Cys352Arg) http://identifiers.org/clinvar/211062 ^@ NM_032638.4(GATA2):c.857C>T (p.Ala286Val) http://identifiers.org/clinvar/211179 ^@ NM_052985.3(IFT122):c.2061T>C (p.Ile687=) http://identifiers.org/clinvar/211180 ^@ NM_052985.3(IFT122):c.2146-8C>T http://identifiers.org/clinvar/211181 ^@ NM_052985.3(IFT122):c.3585C>T (p.Ile1195=) http://identifiers.org/clinvar/211684 ^@ NM_153240.4(NPHP3):c.2089-9C>T http://identifiers.org/clinvar/210704 ^@ NM_025180.3(CEP63):c.282G>A (p.Met94Ile) http://identifiers.org/clinvar/210705 ^@ NM_025180.3(CEP63):c.989_992delACAG (p.Asp330Valfs) http://identifiers.org/clinvar/210698 ^@ NM_025180.3(CEP63):c.1068-1G>A http://identifiers.org/clinvar/210699 ^@ NM_025180.3(CEP63):c.1069T>C (p.Leu357=) http://identifiers.org/clinvar/210700 ^@ NM_025180.3(CEP63):c.1604A>G (p.Lys535Arg) http://identifiers.org/clinvar/210701 ^@ NM_025180.3(CEP63):c.1673+12dup http://identifiers.org/clinvar/210702 ^@ NM_025180.3(CEP63):c.1829G>T (p.Arg610Met) http://identifiers.org/clinvar/210703 ^@ NM_025180.3(CEP63):c.1933C>G (p.Gln645Glu) http://identifiers.org/clinvar/210492 ^@ NM_001184.3(ATR):c.5739-11_5739-4del http://identifiers.org/clinvar/210491 ^@ NM_001184.3(ATR):c.5305G>C (p.Glu1769Gln) http://identifiers.org/clinvar/210490 ^@ NM_001184.3(ATR):c.4764C>T (p.Leu1588=) http://identifiers.org/clinvar/210489 ^@ NM_001184.3(ATR):c.4677C>T (p.Asp1559=) http://identifiers.org/clinvar/210488 ^@ NM_001184.3(ATR):c.4641+1G>T http://identifiers.org/clinvar/210487 ^@ NM_001184.3(ATR):c.195C>T (p.Ser65=) http://identifiers.org/clinvar/210756 ^@ NM_000096.3(CP):c.2571C>T (p.Tyr857=) http://identifiers.org/clinvar/210755 ^@ NM_000096.3(CP):c.1430C>T (p.Pro477Leu) http://identifiers.org/clinvar/210757 ^@ NM_000096.3(CP):c.737T>G (p.Val246Gly) http://identifiers.org/clinvar/210754 ^@ NM_005677.3(COLQ):c.117C>A (p.Ser39Arg) http://identifiers.org/clinvar/210936 ^@ NM_005442.3(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla) http://identifiers.org/clinvar/210759 ^@ NM_016302.3(CRBN):c.1274C>T (p.Thr425Met) http://identifiers.org/clinvar/210765 ^@ NM_016302.3(CRBN):c.937G>C (p.Asp313His) http://identifiers.org/clinvar/210763 ^@ NM_016302.3(CRBN):c.654A>G (p.Gln218=) http://identifiers.org/clinvar/210762 ^@ NM_016302.3(CRBN):c.377+13A>C http://identifiers.org/clinvar/210760 ^@ NM_016302.3(CRBN):c.286A>G (p.Thr96Ala) http://identifiers.org/clinvar/210764 ^@ NM_016302.3(CRBN):c.88G>A (p.Glu30Lys) http://identifiers.org/clinvar/210761 ^@ NM_016302.3(CRBN):c.34C>T (p.His12Tyr) http://identifiers.org/clinvar/210806 ^@ NM_001904.3(CTNNB1):c.486C>T (p.Asp162=) http://identifiers.org/clinvar/210804 ^@ NM_001904.3(CTNNB1):c.2182G>C (p.Ala728Pro) http://identifiers.org/clinvar/210805 ^@ NM_001904.3(CTNNB1):c.2320C>T (p.Leu774=) http://identifiers.org/clinvar/211942 ^@ NM_032806.5(POMGNT2):c.364G>A (p.Val122Met) http://identifiers.org/clinvar/210185 ^@ NM_018075.4(ANO10):c.1669-2A>T http://identifiers.org/clinvar/210186 ^@ NM_018075.4(ANO10):c.337+1G>A http://identifiers.org/clinvar/211213 ^@ NM_002222.5(ITPR1):c.2129A>C (p.Lys710Thr) http://identifiers.org/clinvar/210823 ^@ NM_004393.5(DAG1):c.2065C>T (p.Arg689Trp) http://identifiers.org/clinvar/211926 ^@ NM_015426.4(POC1A):c.784C>T (p.Arg262Trp) http://identifiers.org/clinvar/211925 ^@ NM_015426.4(POC1A):c.159C>T (p.Arg53=) http://identifiers.org/clinvar/211041 ^@ NM_032682.5(FOXP1):c.1709A>G (p.Asn570Ser) http://identifiers.org/clinvar/211040 ^@ NM_032682.5(FOXP1):c.1541G>A (p.Arg514His) http://identifiers.org/clinvar/211039 ^@ NM_032682.5(FOXP1):c.1510C>G (p.Arg504Gly) http://identifiers.org/clinvar/211038 ^@ NM_032682.5(FOXP1):c.1507C>T (p.Arg503Ter) http://identifiers.org/clinvar/211037 ^@ NM_032682.5(FOXP1):c.1413A>G (p.Ala471=) http://identifiers.org/clinvar/211035 ^@ NM_032682.5(FOXP1):c.1236C>A (p.Ala412=) http://identifiers.org/clinvar/211042 ^@ NM_032682.5(FOXP1):c.181-4C>T http://identifiers.org/clinvar/211043 ^@ NM_032682.5(FOXP1):c.44C>T (p.Ala15Val) http://identifiers.org/clinvar/211036 ^@ NM_032682.5(FOXP1):c.13T>C (p.Ser5Pro) http://identifiers.org/clinvar/211070 ^@ NM_000158.3(GBE1):c.1521T>C (p.Thr507=) http://identifiers.org/clinvar/211371 ^@ NM_015454.1(LARP7):c.802_1142+267del http://identifiers.org/clinvar/211125 ^@ NM_005327.4(HADH):c.132+7G>T http://identifiers.org/clinvar/211126 ^@ NM_005327.4(HADH):c.275T>G (p.Phe92Cys) http://identifiers.org/clinvar/211127 ^@ NM_005327.4(HADH):c.456G>T (p.Gln152His) http://identifiers.org/clinvar/211128 ^@ NM_005327.4(HADH):c.579A>G (p.Thr193=) http://identifiers.org/clinvar/211960 ^@ NM_003619.3(PRSS12):c.2320+6G>C http://identifiers.org/clinvar/211959 ^@ NM_003619.3(PRSS12):c.1946G>A (p.Arg649Gln) http://identifiers.org/clinvar/211958 ^@ NM_003619.3(PRSS12):c.1492T>A (p.Phe498Ile) http://identifiers.org/clinvar/211957 ^@ NM_003619.3(PRSS12):c.1490-7G>A http://identifiers.org/clinvar/211965 ^@ NM_003619.3(PRSS12):c.907A>G (p.Thr303Ala) http://identifiers.org/clinvar/211964 ^@ NM_003619.3(PRSS12):c.523G>A (p.Gly175Ser) http://identifiers.org/clinvar/211962 ^@ NM_003619.3(PRSS12):c.309G>C (p.Thr103=) http://identifiers.org/clinvar/211961 ^@ NM_003619.3(PRSS12):c.243G>C (p.Gln81His) http://identifiers.org/clinvar/211963 ^@ NM_003619.3(PRSS12):c.51A>G (p.Glu17=) http://identifiers.org/clinvar/211495 ^@ NM_152778.2(MFSD8):c.935T>C (p.Ile312Thr) http://identifiers.org/clinvar/211809 ^@ NM_001102653.1(OTUD4):c.2808T>A (p.Ala936=) http://identifiers.org/clinvar/210613 ^@ NM_001080522.2(CC2D2A):c.891T>C (p.Tyr297=) http://identifiers.org/clinvar/210608 ^@ NM_001080522.2(CC2D2A):c.1978G>A (p.Val660Ile) http://identifiers.org/clinvar/210609 ^@ NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) http://identifiers.org/clinvar/210610 ^@ NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) http://identifiers.org/clinvar/210611 ^@ NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) http://identifiers.org/clinvar/210612 ^@ NM_001080522.2(CC2D2A):c.4465_4468delGACA (p.Asp1489Lysfs) http://identifiers.org/clinvar/211004 ^@ NM_000142.4(FGFR3):c.393G>A (p.Ser131=) http://identifiers.org/clinvar/211003 ^@ NM_000142.4(FGFR3):c.1056G>A (p.Ala352=) http://identifiers.org/clinvar/212151 ^@ NM_016955.3(SEPSECS):c.1271C>A (p.Ser424Ter) http://identifiers.org/clinvar/212150 ^@ NM_016955.3(SEPSECS):c.115-4dup http://identifiers.org/clinvar/210856 ^@ NM_173660.4(DOK7):c.596delT (p.Ile199Thrfs) http://identifiers.org/clinvar/212302 ^@ NM_024592.4(SRD5A3):c.480C>T (p.Val160=) http://identifiers.org/clinvar/212303 ^@ NM_024592.4(SRD5A3):c.566A>C (p.Tyr189Ser) http://identifiers.org/clinvar/210677 ^@ NM_025009.4(CEP135):c.203T>C (p.Leu68Ser) http://identifiers.org/clinvar/210683 ^@ NM_025009.4(CEP135):c.636A>C (p.Glu212Asp) http://identifiers.org/clinvar/210684 ^@ NM_025009.4(CEP135):c.700-10A>G http://identifiers.org/clinvar/210672 ^@ NM_025009.4(CEP135):c.1004_1006delAAG (p.Glu335del) http://identifiers.org/clinvar/210673 ^@ NM_025009.4(CEP135):c.1254A>G (p.Arg418=) http://identifiers.org/clinvar/210674 ^@ NM_025009.4(CEP135):c.1412G>A (p.Arg471Lys) http://identifiers.org/clinvar/210675 ^@ NM_025009.4(CEP135):c.1740A>G (p.Arg580=) http://identifiers.org/clinvar/210676 ^@ NM_025009.4(CEP135):c.1866C>G (p.Ser622Arg) http://identifiers.org/clinvar/210678 ^@ NM_025009.4(CEP135):c.2534T>C (p.Val845Ala) http://identifiers.org/clinvar/210679 ^@ NM_025009.4(CEP135):c.2767G>A (p.Glu923Lys) http://identifiers.org/clinvar/210680 ^@ NM_025009.4(CEP135):c.3156C>T (p.His1052=) http://identifiers.org/clinvar/210681 ^@ NM_025009.4(CEP135):c.3265T>A (p.Leu1089Ile) http://identifiers.org/clinvar/210682 ^@ NM_025009.4(CEP135):c.3320G>A (p.Arg1107Gln) http://identifiers.org/clinvar/212307 ^@ NM_006947.3(SRP72):c.883G>A (p.Glu295Lys) http://identifiers.org/clinvar/212308 ^@ NM_006947.3(SRP72):c.892C>T (p.Leu298Phe) http://identifiers.org/clinvar/212305 ^@ NM_006947.3(SRP72):c.1589T>C (p.Ile530Thr) http://identifiers.org/clinvar/212306 ^@ NM_006947.3(SRP72):c.1871C>T (p.Thr624Ile) http://identifiers.org/clinvar/212304 ^@ NM_006947.3(SRP72):c.*1018A>G http://identifiers.org/clinvar/212616 ^@ NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) http://identifiers.org/clinvar/212610 ^@ NM_006005.3(WFS1):c.1142T>C (p.Leu381Pro) http://identifiers.org/clinvar/212611 ^@ NM_006005.3(WFS1):c.1240_1242delTTC (p.Phe414del) http://identifiers.org/clinvar/212612 ^@ NM_006005.3(WFS1):c.1698_1703delCCTCTT (p.Leu567_Phe568del) http://identifiers.org/clinvar/212613 ^@ NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn) http://identifiers.org/clinvar/212614 ^@ NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) http://identifiers.org/clinvar/212615 ^@ NM_006005.3(WFS1):c.2424C>T (p.Ser808=) http://identifiers.org/clinvar/211434 ^@ NM_002753.4(MAPK10):c.339C>T (p.Val113=) http://identifiers.org/clinvar/211433 ^@ NM_002753.4(MAPK10):c.21C>A (p.Tyr7Ter) http://identifiers.org/clinvar/212208 ^@ NM_001003841.2(SLC6A19):c.828C>T (p.Phe276=) http://identifiers.org/clinvar/212401 ^@ NM_198253.2(TERT):c.3032+69G>A http://identifiers.org/clinvar/210116 ^@ NM_001182.4(ALDH7A1):c.1489+4C>T http://identifiers.org/clinvar/210118 ^@ NM_001182.4(ALDH7A1):c.998C>T (p.Ala333Val) http://identifiers.org/clinvar/210117 ^@ NM_001182.4(ALDH7A1):c.201G>T (p.Thr67=) http://identifiers.org/clinvar/212400 ^@ NM_198253.2(TERT):c.1990G>C (p.Val664Leu) http://identifiers.org/clinvar/212399 ^@ NM_198253.2(TERT):c.1620C>G (p.Ile540Met) http://identifiers.org/clinvar/211002 ^@ NM_001999.3(FBN2):c.8247A>G (p.Thr2749=) http://identifiers.org/clinvar/211001 ^@ NM_001999.3(FBN2):c.7547C>T (p.Ser2516Leu) http://identifiers.org/clinvar/211000 ^@ NM_001999.3(FBN2):c.7205G>A (p.Arg2402His) http://identifiers.org/clinvar/210999 ^@ NM_001999.3(FBN2):c.7181T>C (p.Ile2394Thr) http://identifiers.org/clinvar/210998 ^@ NM_001999.3(FBN2):c.6551A>T (p.Asn2184Ile) http://identifiers.org/clinvar/210997 ^@ NM_001999.3(FBN2):c.4461A>T (p.Arg1487Ser) http://identifiers.org/clinvar/210996 ^@ NM_001999.3(FBN2):c.4141C>A (p.His1381Asn) http://identifiers.org/clinvar/210995 ^@ NM_001999.3(FBN2):c.3690A>G (p.Gly1230=) http://identifiers.org/clinvar/210993 ^@ NM_001999.3(FBN2):c.1040G>A (p.Arg347His) http://identifiers.org/clinvar/210994 ^@ NM_001999.3(FBN2):c.158G>A (p.Gly53Asp) http://identifiers.org/clinvar/212398 ^@ NM_198253.2(TERT):c.1323_1325delGGA (p.Glu441del) http://identifiers.org/clinvar/212383 ^@ NM_001135243.1(TCOF1):c.122C>T (p.Ala41Val) http://identifiers.org/clinvar/212384 ^@ NM_000356.3(TCOF1):c.386_387delCA (p.Thr129Argfs) http://identifiers.org/clinvar/211057 ^@ NM_000806.5(GABRA1):c.442A>T (p.Ile148Phe) http://identifiers.org/clinvar/211668 ^@ NM_004387.3(NKX2-5):c.*61G>T http://identifiers.org/clinvar/211673 ^@ NM_004387.3(NKX2-5):c.635C>A (p.Pro212Gln) http://identifiers.org/clinvar/211672 ^@ NM_004387.3(NKX2-5):c.554G>T (p.Trp185Leu) http://identifiers.org/clinvar/211671 ^@ NM_004387.3(NKX2-5):c.512T>G (p.Leu171Arg) http://identifiers.org/clinvar/211670 ^@ NM_004387.3(NKX2-5):c.478_480delCAGinsGTACCGTT (p.Gln160Valfs) http://identifiers.org/clinvar/211669 ^@ NM_004387.3(NKX2-5):c.114G>A (p.Glu38=) http://identifiers.org/clinvar/211523 ^@ NM_002449.4(MSX2):c.375G>T (p.Pro125=) http://identifiers.org/clinvar/211715 ^@ NM_022455.4(NSD1):c.-8G>A http://identifiers.org/clinvar/211717 ^@ NM_022455.4(NSD1):c.1264dupG (p.Glu422Glyfs) http://identifiers.org/clinvar/211718 ^@ NM_022455.4(NSD1):c.1802dupA (p.Cys602Valfs) http://identifiers.org/clinvar/211719 ^@ NM_022455.4(NSD1):c.1805G>A (p.Cys602Tyr) http://identifiers.org/clinvar/211720 ^@ NM_022455.4(NSD1):c.2167dupA (p.Thr723Asnfs) http://identifiers.org/clinvar/211721 ^@ NM_022455.4(NSD1):c.2190_2191delCTinsG (p.Ser731Leufs) http://identifiers.org/clinvar/211722 ^@ NM_022455.4(NSD1):c.2859dupT (p.Lys954Terfs) http://identifiers.org/clinvar/211723 ^@ NM_022455.4(NSD1):c.3146dupA (p.Thr1050Aspfs) http://identifiers.org/clinvar/211724 ^@ NM_022455.4(NSD1):c.3259_3265delAAAGAGG (p.Lys1087Ilefs) http://identifiers.org/clinvar/211725 ^@ NM_022455.4(NSD1):c.3316dupT (p.Ser1106Phefs) http://identifiers.org/clinvar/211726 ^@ NM_022455.4(NSD1):c.3549dupT (p.Glu1184Terfs) http://identifiers.org/clinvar/211727 ^@ NM_022455.4(NSD1):c.3578dupG (p.Ser1193Argfs) http://identifiers.org/clinvar/211728 ^@ NM_022455.4(NSD1):c.3939dupA (p.Glu1314Argfs) http://identifiers.org/clinvar/211729 ^@ NM_022455.4(NSD1):c.4020delA (p.Glu1341Serfs) http://identifiers.org/clinvar/211730 ^@ NM_022455.4(NSD1):c.4282dupG (p.Asp1428Glyfs) http://identifiers.org/clinvar/211731 ^@ NM_022455.4(NSD1):c.4301dupA (p.Cys1435Valfs) http://identifiers.org/clinvar/211732 ^@ NM_022455.4(NSD1):c.4479_4488dupAGAGATTCCA (p.Gly1497Argfs) http://identifiers.org/clinvar/211733 ^@ NM_022455.4(NSD1):c.4732dupA (p.Arg1578Lysfs) http://identifiers.org/clinvar/211734 ^@ NM_022455.4(NSD1):c.4882_4883insAA (p.Met1628Lysfs) http://identifiers.org/clinvar/211735 ^@ NM_022455.4(NSD1):c.5408_5411delACTAins9 http://identifiers.org/clinvar/211736 ^@ NM_022455.4(NSD1):c.5407_5410dupGACT (p.Tyr1804Terfs) http://identifiers.org/clinvar/211737 ^@ NM_022455.4(NSD1):c.5790dupC (p.Cys1931Leufs) http://identifiers.org/clinvar/211738 ^@ NM_022455.4(NSD1):c.5990A>G (p.Tyr1997Cys) http://identifiers.org/clinvar/211739 ^@ NM_022455.4(NSD1):c.6094_6095dupTG (p.Trp2032Cysfs) http://identifiers.org/clinvar/211740 ^@ NM_022455.4(NSD1):c.6112dupA (p.Thr2038Asnfs) http://identifiers.org/clinvar/211741 ^@ NM_022455.4(NSD1):c.6218dupG (p.Ala2074Serfs) http://identifiers.org/clinvar/211742 ^@ NM_022455.4(NSD1):c.6290dupA (p.Lys2098Glufs) http://identifiers.org/clinvar/211743 ^@ NM_022455.4(NSD1):c.6307_6308insTGTGC (p.Gln2103Leufs) http://identifiers.org/clinvar/211744 ^@ NM_022455.4(NSD1):c.6344dupA (p.Glu2116Glyfs) http://identifiers.org/clinvar/211745 ^@ NM_022455.4(NSD1):c.6459_6463+5del http://identifiers.org/clinvar/211746 ^@ NM_022455.4(NSD1):c.6541_6543dupTCC (p.Ser2181_Phe2182insSer) http://identifiers.org/clinvar/211747 ^@ NM_022455.4(NSD1):c.7783A>T (p.Lys2595Ter) http://identifiers.org/clinvar/210842 ^@ NM_016222.3(DDX41):c.1293A>C (p.Thr431=) http://identifiers.org/clinvar/210843 ^@ NM_016222.3(DDX41):c.415_418dupGATG (p.Asp140Glyfs) http://identifiers.org/clinvar/211582 ^@ NM_004553.4(NDUFS6):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/212205 ^@ NM_016180.4(SLC45A2):c.1325C>T (p.Pro442Leu) http://identifiers.org/clinvar/212206 ^@ NM_016180.4(SLC45A2):c.578T>G (p.Leu193Arg) http://identifiers.org/clinvar/210135 ^@ NM_014324.5(AMACR):c.844G>C (p.Glu282Gln) http://identifiers.org/clinvar/211625 ^@ NM_015384.4(NIPBL):c.212_213dupAG (p.Val72Argfs) http://identifiers.org/clinvar/211629 ^@ NM_133433.3(NIPBL):c.286_287insG (p.Leu96Cysfs) http://identifiers.org/clinvar/211631 ^@ NM_015384.4(NIPBL):c.314dupA (p.Asn105Lysfs) http://identifiers.org/clinvar/211639 ^@ NM_133433.3(NIPBL):c.458+1_458+2dup http://identifiers.org/clinvar/211620 ^@ NM_015384.4(NIPBL):c.1146dupT (p.Ser383Terfs) http://identifiers.org/clinvar/211621 ^@ NM_133433.3(NIPBL):c.1164T>C (p.Asn388=) http://identifiers.org/clinvar/211622 ^@ NM_015384.4(NIPBL):c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs) http://identifiers.org/clinvar/211623 ^@ NM_133433.3(NIPBL):c.1496-8A>G http://identifiers.org/clinvar/211624 ^@ NM_015384.4(NIPBL):c.1992dupC (p.Glu665Argfs) http://identifiers.org/clinvar/211626 ^@ NM_015384.4(NIPBL):c.2394_2397dupTGAA (p.Ala800Terfs) http://identifiers.org/clinvar/211627 ^@ NM_015384.4(NIPBL):c.2464delC (p.Gln822Lysfs) http://identifiers.org/clinvar/211628 ^@ NM_133433.3(NIPBL):c.2521C>T (p.Arg841Ter) http://identifiers.org/clinvar/211630 ^@ NM_015384.4(NIPBL):c.2965dupA (p.Ile989Asnfs) http://identifiers.org/clinvar/211632 ^@ NM_015384.4(NIPBL):c.3264delC (p.Ser1089Valfs) http://identifiers.org/clinvar/211633 ^@ NM_133433.3(NIPBL):c.3856-7_3856-5del http://identifiers.org/clinvar/211634 ^@ NM_133433.3(NIPBL):c.4320+2dup http://identifiers.org/clinvar/211635 ^@ NM_133433.3(NIPBL):c.4422-12del http://identifiers.org/clinvar/211636 ^@ NM_133433.3(NIPBL):c.4495C>T (p.Gln1499Ter) http://identifiers.org/clinvar/211637 ^@ NM_133433.3(NIPBL):c.4529dupA (p.Asp1510Glufs) http://identifiers.org/clinvar/211638 ^@ NM_015384.4(NIPBL):c.4532_4533delCT (p.Ser1511Terfs) http://identifiers.org/clinvar/211640 ^@ NM_133433.3(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs) http://identifiers.org/clinvar/211641 ^@ NM_133433.3(NIPBL):c.4776+4A>G http://identifiers.org/clinvar/211642 ^@ NM_015384.4(NIPBL):c.4893dupA (p.Gly1632Argfs) http://identifiers.org/clinvar/211643 ^@ NM_133433.3(NIPBL):c.4965_4972delGCTTGATT (p.Asp1657Glyfs) http://identifiers.org/clinvar/211644 ^@ NM_015384.4(NIPBL):c.4988_4991dupCTGA (p.Glu1664Aspfs) http://identifiers.org/clinvar/211645 ^@ NM_133433.3(NIPBL):c.5044C>T (p.Arg1682Ter) http://identifiers.org/clinvar/211646 ^@ NM_133433.3(NIPBL):c.5046_5047insTG (p.Asp1683Trpfs) http://identifiers.org/clinvar/211647 ^@ NM_133433.3(NIPBL):c.5580dupT (p.Gly1861Trpfs) http://identifiers.org/clinvar/211648 ^@ NM_015384.4(NIPBL):c.5679dupT (p.Arg1894Serfs) http://identifiers.org/clinvar/211649 ^@ NM_015384.4(NIPBL):c.5739_5740delCT (p.Trp1914Valfs) http://identifiers.org/clinvar/211650 ^@ NM_133433.3(NIPBL):c.5863-12_5863-11insAT http://identifiers.org/clinvar/211651 ^@ NM_133433.3(NIPBL):c.5863-12_5863-11insATAT http://identifiers.org/clinvar/211652 ^@ NM_133433.3(NIPBL):c.5863-12_5863-11insTGTATATA http://identifiers.org/clinvar/211653 ^@ NM_133433.3(NIPBL):c.6108+2T>C http://identifiers.org/clinvar/211654 ^@ NM_133433.3(NIPBL):c.6249+2dup http://identifiers.org/clinvar/211655 ^@ NM_133433.3(NIPBL):c.6263G>A (p.Cys2088Tyr) http://identifiers.org/clinvar/211656 ^@ NM_015384.4(NIPBL):c.6707dupA (p.Asn2236Lysfs) http://identifiers.org/clinvar/211657 ^@ NM_133433.3(NIPBL):c.6800T>G (p.Met2267Arg) http://identifiers.org/clinvar/211658 ^@ NM_015384.4(NIPBL):c.6811dupT (p.Ser2271Phefs) http://identifiers.org/clinvar/211659 ^@ NM_133433.3(NIPBL):c.7263+4A>C http://identifiers.org/clinvar/211660 ^@ NM_015384.4(NIPBL):c.7301_7308delATCTAGCCins13 (p.?) http://identifiers.org/clinvar/211661 ^@ NM_015384.4(NIPBL):c.7816dupA (p.Ile2606Asnfs) http://identifiers.org/clinvar/211662 ^@ NM_015384.4(NIPBL):c.7841_7842dupTA (p.Val2615Terfs) http://identifiers.org/clinvar/211663 ^@ NM_015384.4(NIPBL):c.7912dupG (p.Glu2638Glyfs) http://identifiers.org/clinvar/211664 ^@ NM_015384.4(NIPBL):c.7913dupA (p.Val2639Glyfs) http://identifiers.org/clinvar/211665 ^@ NM_133433.3(NIPBL):c.8275_8276dupCT (p.Val2760Trpfs) http://identifiers.org/clinvar/211666 ^@ NM_133433.3(NIPBL):c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) http://identifiers.org/clinvar/211667 ^@ NM_133433.3(NIPBL):c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs) http://identifiers.org/clinvar/211619 ^@ NM_133433.3(NIPBL):c.*84dupA http://identifiers.org/clinvar/210554 ^@ NM_023073.3(C5orf42):c.8628C>T (p.Ser2876=) http://identifiers.org/clinvar/210553 ^@ NM_023073.3(C5orf42):c.4517A>G (p.His1506Arg) http://identifiers.org/clinvar/211761 ^@ NM_017755.5(NSUN2):c.2300G>A (p.Arg767Gln) http://identifiers.org/clinvar/211760 ^@ NM_017755.5(NSUN2):c.2272T>C (p.Cys758Arg) http://identifiers.org/clinvar/211759 ^@ NM_017755.5(NSUN2):c.2259C>T (p.Asp753=) http://identifiers.org/clinvar/211757 ^@ NM_017755.5(NSUN2):c.2143G>A (p.Val715Ile) http://identifiers.org/clinvar/211756 ^@ NM_017755.5(NSUN2):c.2022C>T (p.Pro674=) http://identifiers.org/clinvar/211755 ^@ NM_017755.5(NSUN2):c.1998-8A>G http://identifiers.org/clinvar/211754 ^@ NM_017755.5(NSUN2):c.1932G>T (p.Glu644Asp) http://identifiers.org/clinvar/211753 ^@ NM_017755.5(NSUN2):c.1185G>A (p.Pro395=) http://identifiers.org/clinvar/211762 ^@ NM_017755.5(NSUN2):c.915C>T (p.Arg305=) http://identifiers.org/clinvar/211758 ^@ NM_017755.5(NSUN2):c.222C>T (p.Leu74=) http://identifiers.org/clinvar/211763 ^@ NM_017755.5(NSUN2):c.97-10C>T http://identifiers.org/clinvar/211905 ^@ NM_181523.2(PIK3R1):c.*3C>T http://identifiers.org/clinvar/211775 ^@ NM_002538.3(OCLN):c.173_194del22 (p.Trp58Phefs) http://identifiers.org/clinvar/211776 ^@ NM_002538.3(OCLN):c.197G>T (p.Arg66Leu) http://identifiers.org/clinvar/211773 ^@ NM_002538.3(OCLN):c.1004G>A (p.Arg335Gln) http://identifiers.org/clinvar/211774 ^@ NM_002538.3(OCLN):c.1037+5G>A http://identifiers.org/clinvar/211144 ^@ NM_000521.3(HEXB):c.127G>T (p.Ala43Ser) http://identifiers.org/clinvar/210190 ^@ NM_003664.4(AP3B1):c.2673G>T (p.Gln891His) http://identifiers.org/clinvar/210189 ^@ NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) http://identifiers.org/clinvar/210188 ^@ NM_003664.4(AP3B1):c.2613C>T (p.His871=) http://identifiers.org/clinvar/210187 ^@ NM_003664.4(AP3B1):c.1933G>A (p.Asp645Asn) http://identifiers.org/clinvar/211493 ^@ NM_002397.4(MEF2C):c.1207A>G (p.Thr403Ala) http://identifiers.org/clinvar/211492 ^@ NM_002397.4(MEF2C):c.1021G>A (p.Ala341Thr) http://identifiers.org/clinvar/211494 ^@ NM_002397.4(MEF2C):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/211098 ^@ NM_032119.3(ADGRV1):c.2021A>G (p.Tyr674Cys) http://identifiers.org/clinvar/211099 ^@ NM_032119.3(ADGRV1):c.2734+8A>G http://identifiers.org/clinvar/211097 ^@ NM_032119.3(ADGRV1):c.10697T>C (p.Ile3566Thr) http://identifiers.org/clinvar/211105 ^@ NM_021956.4(GRIK2):c.672T>C (p.Phe224=) http://identifiers.org/clinvar/211106 ^@ NM_021956.4(GRIK2):c.724-7del http://identifiers.org/clinvar/211102 ^@ NM_021956.4(GRIK2):c.1065C>T (p.Phe355=) http://identifiers.org/clinvar/211103 ^@ NM_021956.4(GRIK2):c.1265C>T (p.Ala422Val) http://identifiers.org/clinvar/211104 ^@ NM_021956.4(GRIK2):c.2487C>T (p.Ala829=) http://identifiers.org/clinvar/212279 ^@ NM_018013.3(SOBP):c.219C>T (p.His73=) http://identifiers.org/clinvar/212286 ^@ NM_018013.3(SOBP):c.265G>A (p.Glu89Lys) http://identifiers.org/clinvar/212287 ^@ NM_018013.3(SOBP):c.573+12G>A http://identifiers.org/clinvar/212276 ^@ NM_018013.3(SOBP):c.1321C>T (p.Pro441Ser) http://identifiers.org/clinvar/212277 ^@ NM_018013.3(SOBP):c.1416C>A (p.Pro472=) http://identifiers.org/clinvar/212278 ^@ NM_018013.3(SOBP):c.1896C>T (p.Gly632=) http://identifiers.org/clinvar/212280 ^@ NM_018013.3(SOBP):c.2247_2252dupGCCGCC (p.Pro751_Ala752insProPro) http://identifiers.org/clinvar/212281 ^@ NM_018013.3(SOBP):c.2250_2252delGCC (p.Pro751del) http://identifiers.org/clinvar/212282 ^@ NM_018013.3(SOBP):c.2349C>T (p.Asp783=) http://identifiers.org/clinvar/212283 ^@ NM_018013.3(SOBP):c.2412G>A (p.Pro804=) http://identifiers.org/clinvar/212284 ^@ NM_018013.3(SOBP):c.2560C>G (p.Pro854Ala) http://identifiers.org/clinvar/212285 ^@ NM_018013.3(SOBP):c.2586A>T (p.Lys862Asn) http://identifiers.org/clinvar/212051 ^@ NM_173560.3(RFX6):c.1829T>C (p.Leu610Pro) http://identifiers.org/clinvar/212052 ^@ NM_173560.3(RFX6):c.2039C>A (p.Thr680Lys) http://identifiers.org/clinvar/211350 ^@ NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) http://identifiers.org/clinvar/211351 ^@ NM_000426.3(LAMA2):c.3110T>C (p.Ile1037Thr) http://identifiers.org/clinvar/211352 ^@ NM_000426.3(LAMA2):c.3279C>T (p.Cys1093=) http://identifiers.org/clinvar/211353 ^@ NM_000426.3(LAMA2):c.5021G>A (p.Arg1674Lys) http://identifiers.org/clinvar/211354 ^@ NM_000426.3(LAMA2):c.5670G>T (p.Val1890=) http://identifiers.org/clinvar/211355 ^@ NM_000426.3(LAMA2):c.7369A>C (p.Asn2457His) http://identifiers.org/clinvar/211488 ^@ NM_015979.3(MED23):c.3878A>G (p.His1293Arg) http://identifiers.org/clinvar/211487 ^@ NM_015979.3(MED23):c.3837G>A (p.Ala1279=) http://identifiers.org/clinvar/211486 ^@ NM_015979.3(MED23):c.3825+5A>G http://identifiers.org/clinvar/211485 ^@ NM_015979.3(MED23):c.3428T>A (p.Val1143Glu) http://identifiers.org/clinvar/211491 ^@ NM_015979.3(MED23):c.970G>A (p.Glu324Lys) http://identifiers.org/clinvar/211490 ^@ NM_015979.3(MED23):c.495+1G>A http://identifiers.org/clinvar/211489 ^@ NM_015979.3(MED23):c.452C>G (p.Thr151Arg) http://identifiers.org/clinvar/211484 ^@ NM_015979.3(MED23):c.235C>T (p.Leu79Phe) http://identifiers.org/clinvar/210114 ^@ NM_017651.4(AHI1):c.2087A>G (p.His696Arg) http://identifiers.org/clinvar/210113 ^@ NM_017651.4(AHI1):c.1861G>T (p.Gly621Ter) http://identifiers.org/clinvar/212342 ^@ NM_033071.3(SYNE1):c.24865C>T (p.Gln8289Ter) http://identifiers.org/clinvar/212341 ^@ NM_033071.3(SYNE1):c.24602G>A (p.Arg8201Gln) http://identifiers.org/clinvar/212340 ^@ NM_033071.3(SYNE1):c.19814G>A (p.Arg6605Gln) http://identifiers.org/clinvar/212339 ^@ NM_033071.3(SYNE1):c.16208C>A (p.Ser5403Ter) http://identifiers.org/clinvar/212338 ^@ NM_033071.3(SYNE1):c.15581A>G (p.Gln5194Arg) http://identifiers.org/clinvar/212337 ^@ NM_033071.3(SYNE1):c.14122G>T (p.Ala4708Ser) http://identifiers.org/clinvar/212336 ^@ NM_033071.3(SYNE1):c.13118G>A (p.Arg4373Gln) http://identifiers.org/clinvar/212335 ^@ NM_033071.3(SYNE1):c.10381G>T (p.Ala3461Ser) http://identifiers.org/clinvar/212344 ^@ NM_033071.3(SYNE1):c.6898delG (p.Glu2300Lysfs) http://identifiers.org/clinvar/212343 ^@ NM_033071.3(SYNE1):c.2910C>T (p.His970=) http://identifiers.org/clinvar/210858 ^@ NM_032122.4(DTNBP1):c.702C>T (p.Asn234=) http://identifiers.org/clinvar/210857 ^@ NM_032122.4(DTNBP1):c.162G>A (p.Arg54=) http://identifiers.org/clinvar/210264 ^@ NM_020732.3(ARID1B):c.-3A>G http://identifiers.org/clinvar/210283 ^@ NM_020732.3(ARID1B):c.34G>A (p.Gly12Ser) http://identifiers.org/clinvar/210267 ^@ NM_020732.3(ARID1B):c.121_123delTCC (p.Ser41del) http://identifiers.org/clinvar/210272 ^@ NM_020732.3(ARID1B):c.197A>G (p.Asn66Ser) http://identifiers.org/clinvar/210284 ^@ NM_020732.3(ARID1B):c.357_362dupGCAGCA (p.Gln131_His132insGlnGln) http://identifiers.org/clinvar/210285 ^@ NM_020732.3(ARID1B):c.363_371delACAGCAGCA (p.Gln129_Gln131del) http://identifiers.org/clinvar/210286 ^@ NM_020732.3(ARID1B):c.363_374delACAGCAGCAGCA (p.Gln128_Gln131del) http://identifiers.org/clinvar/210288 ^@ NM_020732.3(ARID1B):c.384_386delGCA (p.Gln131del) http://identifiers.org/clinvar/210289 ^@ NM_020732.3(ARID1B):c.384_386dupGCA (p.Gln131_His132insGln) http://identifiers.org/clinvar/210307 ^@ NM_020732.3(ARID1B):c.637C>T (p.Pro213Ser) http://identifiers.org/clinvar/210310 ^@ NM_020732.3(ARID1B):c.736G>A (p.Gly246Ser) http://identifiers.org/clinvar/210311 ^@ NM_020732.3(ARID1B):c.887A>C (p.Asn296Thr) http://identifiers.org/clinvar/210312 ^@ NM_020732.3(ARID1B):c.939_944dupCGGCGG (p.Gly319_Ser320insGlyGly) http://identifiers.org/clinvar/210313 ^@ NM_020732.3(ARID1B):c.942_944dupCGG (p.Gly319_Ser320insGly) http://identifiers.org/clinvar/210314 ^@ NM_020732.3(ARID1B):c.983_985dupGAG (p.Gly328_Ala329insGly) http://identifiers.org/clinvar/210315 ^@ NM_020732.3(ARID1B):c.998_1006delGAGCAGGAG (p.Gly333_Gly335del) http://identifiers.org/clinvar/210265 ^@ NM_020732.3(ARID1B):c.1049_1051dupCAG (p.Ala350_Gly351insAla) http://identifiers.org/clinvar/210266 ^@ NM_020732.3(ARID1B):c.1069_1071delGGC (p.Gly357del) http://identifiers.org/clinvar/210268 ^@ NM_020732.3(ARID1B):c.1379C>T (p.Ala460Val) http://identifiers.org/clinvar/210269 ^@ NM_020732.3(ARID1B):c.1592T>C (p.Met531Thr) http://identifiers.org/clinvar/210270 ^@ NM_020732.3(ARID1B):c.1932G>A (p.Met644Ile) http://identifiers.org/clinvar/210271 ^@ NM_020732.3(ARID1B):c.1977C>T (p.Pro659=) http://identifiers.org/clinvar/210273 ^@ NM_020732.3(ARID1B):c.1995A>T (p.Glu665Asp) http://identifiers.org/clinvar/210274 ^@ NM_020732.3(ARID1B):c.2001G>A (p.Leu667=) http://identifiers.org/clinvar/210275 ^@ NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter) http://identifiers.org/clinvar/210276 ^@ NM_020732.3(ARID1B):c.2169T>C (p.His723=) http://identifiers.org/clinvar/210277 ^@ NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter) http://identifiers.org/clinvar/210278 ^@ NM_020732.3(ARID1B):c.2895C>T (p.Pro965=) http://identifiers.org/clinvar/210279 ^@ NM_020732.3(ARID1B):c.2985G>A (p.Pro995=) http://identifiers.org/clinvar/210280 ^@ NM_020732.3(ARID1B):c.3025+6C>T http://identifiers.org/clinvar/210281 ^@ NM_020732.3(ARID1B):c.3309C>T (p.Leu1103=) http://identifiers.org/clinvar/210282 ^@ NM_020732.3(ARID1B):c.3312C>T (p.Tyr1104=) http://identifiers.org/clinvar/210287 ^@ NM_020732.3(ARID1B):c.3796A>G (p.Met1266Val) http://identifiers.org/clinvar/210290 ^@ NM_020732.3(ARID1B):c.3945C>T (p.Ser1315=) http://identifiers.org/clinvar/210291 ^@ NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) http://identifiers.org/clinvar/210292 ^@ NM_020732.3(ARID1B):c.4140C>T (p.Tyr1380=) http://identifiers.org/clinvar/210293 ^@ NM_020732.3(ARID1B):c.4336C>T (p.Gln1446Ter) http://identifiers.org/clinvar/210294 ^@ NM_020732.3(ARID1B):c.4658C>T (p.Ala1553Val) http://identifiers.org/clinvar/210295 ^@ NM_020732.3(ARID1B):c.4941T>C (p.Leu1647=) http://identifiers.org/clinvar/210296 ^@ NM_020732.3(ARID1B):c.4956G>T (p.Thr1652=) http://identifiers.org/clinvar/210297 ^@ NM_020732.3(ARID1B):c.5015A>G (p.Asn1672Ser) http://identifiers.org/clinvar/210298 ^@ NM_020732.3(ARID1B):c.5056dupT (p.Tyr1686Leufs) http://identifiers.org/clinvar/210299 ^@ NM_020732.3(ARID1B):c.5151delG (p.Lys1718Argfs) http://identifiers.org/clinvar/210300 ^@ NM_020732.3(ARID1B):c.5153delA (p.Lys1718Argfs) http://identifiers.org/clinvar/210301 ^@ NM_020732.3(ARID1B):c.5309C>T (p.Ala1770Val) http://identifiers.org/clinvar/210302 ^@ NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter) http://identifiers.org/clinvar/210303 ^@ NM_020732.3(ARID1B):c.5680C>T (p.Pro1894Ser) http://identifiers.org/clinvar/210304 ^@ NM_020732.3(ARID1B):c.5802C>T (p.Ile1934=) http://identifiers.org/clinvar/210305 ^@ NM_020732.3(ARID1B):c.5889C>G (p.Ala1963=) http://identifiers.org/clinvar/210306 ^@ NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) http://identifiers.org/clinvar/210308 ^@ NM_020732.3(ARID1B):c.6594G>A (p.Ala2198=) http://identifiers.org/clinvar/210309 ^@ NM_020732.3(ARID1B):c.6654C>T (p.His2218=) http://identifiers.org/clinvar/210507 ^@ NM_000332.3(ATXN1):c.636G>T (p.Gln212His) http://identifiers.org/clinvar/210506 ^@ NM_000332.3(ATXN1):c.633_635delTCA (p.His211del) http://identifiers.org/clinvar/210505 ^@ NM_000332.3(ATXN1):c.630G>T (p.Gln210His) http://identifiers.org/clinvar/210503 ^@ NM_000332.3(ATXN1):c.624_626delGCA (p.Gln208del) http://identifiers.org/clinvar/210504 ^@ NM_000332.3(ATXN1):c.624G>T (p.Gln208His) http://identifiers.org/clinvar/210502 ^@ NM_000332.3(ATXN1):c.621G>T (p.Gln207His) http://identifiers.org/clinvar/212374 ^@ NM_003194.4(TBP):c.223_281del59ins50 (p.?) http://identifiers.org/clinvar/212639 ^@ NM_001109809.2(ZFP57):c.1545C>G (p.Gly515=) http://identifiers.org/clinvar/212495 ^@ NM_001069.2(TUBB2A):c.1033A>T (p.Ile345Phe) http://identifiers.org/clinvar/212496 ^@ NM_001069.2(TUBB2A):c.504C>T (p.Ser168=) http://identifiers.org/clinvar/212497 ^@ NM_178012.4(TUBB2B):c.292G>A (p.Gly98Arg) http://identifiers.org/clinvar/212357 ^@ NM_006772.2(SYNGAP1):c.586T>C (p.Leu196=) http://identifiers.org/clinvar/212358 ^@ NM_006772.2(SYNGAP1):c.762+1G>T http://identifiers.org/clinvar/212346 ^@ NM_006772.2(SYNGAP1):c.1300G>A (p.Val434Ile) http://identifiers.org/clinvar/212347 ^@ NM_006772.2(SYNGAP1):c.1455C>T (p.Arg485=) http://identifiers.org/clinvar/212348 ^@ NM_006772.2(SYNGAP1):c.1576delG (p.Val526Terfs) http://identifiers.org/clinvar/212349 ^@ NM_006772.2(SYNGAP1):c.2066_2071delTCTCCAinsC (p.Leu689Profs) http://identifiers.org/clinvar/212350 ^@ NM_006772.2(SYNGAP1):c.2324G>A (p.Arg775Gln) http://identifiers.org/clinvar/212351 ^@ NM_006772.2(SYNGAP1):c.2583G>A (p.Ser861=) http://identifiers.org/clinvar/212352 ^@ NM_006772.2(SYNGAP1):c.2845G>A (p.Gly949Ser) http://identifiers.org/clinvar/212353 ^@ NM_006772.2(SYNGAP1):c.3324C>T (p.Ser1108=) http://identifiers.org/clinvar/212354 ^@ NM_006772.2(SYNGAP1):c.3592delT (p.Tyr1198Thrfs) http://identifiers.org/clinvar/212355 ^@ NM_006772.2(SYNGAP1):c.3834C>T (p.Pro1278=) http://identifiers.org/clinvar/212356 ^@ NM_006772.2(SYNGAP1):c.3902C>A (p.Pro1301His) http://identifiers.org/clinvar/210982 ^@ NM_021922.2(FANCE):c.736_738delGGA (p.Gly246del) http://identifiers.org/clinvar/210981 ^@ NM_021922.2(FANCE):c.1510-11C>T http://identifiers.org/clinvar/211929 ^@ NM_203290.3(POLR1C):c.79A>G (p.Thr27Ala) http://identifiers.org/clinvar/211928 ^@ NM_203290.3(POLR1C):c.591C>T (p.Ile197=) http://identifiers.org/clinvar/210911 ^@ NM_018100.3(EFHC1):c.647G>A (p.Arg216Gln) http://identifiers.org/clinvar/210912 ^@ NM_018100.3(EFHC1):c.826C>T (p.Arg276Ter) http://identifiers.org/clinvar/210935 ^@ NM_021814.4(ELOVL5):c.698A>G (p.Tyr233Cys) http://identifiers.org/clinvar/211976 ^@ NM_183227.2(RAB23):c.218C>T (p.Ala73Val) http://identifiers.org/clinvar/210515 ^@ NM_000056.4(BCKDHB):c.1119delA (p.Phe374Serfs) http://identifiers.org/clinvar/212016 ^@ NM_020320.4(RARS2):c.1054_1055delAA (p.Lys352Alafs) http://identifiers.org/clinvar/212017 ^@ NM_020320.4(RARS2):c.726A>G (p.Gln242=) http://identifiers.org/clinvar/210211 ^@ NM_004722.3(AP4M1):c.32delA (p.Lys11Argfs) http://identifiers.org/clinvar/210208 ^@ NM_004722.3(AP4M1):c.189C>T (p.Gly63=) http://identifiers.org/clinvar/210209 ^@ NM_004722.3(AP4M1):c.228C>T (p.Pro76=) http://identifiers.org/clinvar/210210 ^@ NM_004722.3(AP4M1):c.279C>T (p.Tyr93=) http://identifiers.org/clinvar/210212 ^@ NM_004722.3(AP4M1):c.333A>C (p.Glu111Asp) http://identifiers.org/clinvar/210213 ^@ NM_004722.3(AP4M1):c.458G>A (p.Gly153Asp) http://identifiers.org/clinvar/210214 ^@ NM_004722.3(AP4M1):c.762G>A (p.Ser254=) http://identifiers.org/clinvar/210215 ^@ NM_004722.3(AP4M1):c.777G>A (p.Val259=) http://identifiers.org/clinvar/210216 ^@ NM_004722.3(AP4M1):c.955T>C (p.Cys319Arg) http://identifiers.org/clinvar/210206 ^@ NM_004722.3(AP4M1):c.1128C>T (p.Gly376=) http://identifiers.org/clinvar/210207 ^@ NM_004722.3(AP4M1):c.1342G>A (p.Ala448Thr) http://identifiers.org/clinvar/212050 ^@ NM_005045.3(RELN):c.9708C>T (p.Ser3236=) http://identifiers.org/clinvar/212049 ^@ NM_005045.3(RELN):c.9531C>T (p.Ala3177=) http://identifiers.org/clinvar/212047 ^@ NM_005045.3(RELN):c.7644G>A (p.Ser2548=) http://identifiers.org/clinvar/212046 ^@ NM_005045.3(RELN):c.7538C>G (p.Ser2513Cys) http://identifiers.org/clinvar/212045 ^@ NM_005045.3(RELN):c.7093G>A (p.Val2365Met) http://identifiers.org/clinvar/212044 ^@ NM_005045.3(RELN):c.6939T>C (p.Ile2313=) http://identifiers.org/clinvar/212043 ^@ NM_005045.3(RELN):c.6078C>T (p.Asn2026=) http://identifiers.org/clinvar/212042 ^@ NM_005045.3(RELN):c.5790T>C (p.Tyr1930=) http://identifiers.org/clinvar/212041 ^@ NM_005045.3(RELN):c.5587C>T (p.Gln1863Ter) http://identifiers.org/clinvar/212040 ^@ NM_005045.3(RELN):c.4755T>C (p.His1585=) http://identifiers.org/clinvar/212039 ^@ NM_005045.3(RELN):c.4746T>C (p.His1582=) http://identifiers.org/clinvar/212038 ^@ NM_005045.3(RELN):c.4484C>T (p.Thr1495Met) http://identifiers.org/clinvar/212037 ^@ NM_005045.3(RELN):c.3712-5A>G http://identifiers.org/clinvar/212033 ^@ NM_005045.3(RELN):c.2112C>T (p.Ser704=) http://identifiers.org/clinvar/212032 ^@ NM_005045.3(RELN):c.1483A>G (p.Ile495Val) http://identifiers.org/clinvar/212031 ^@ NM_005045.3(RELN):c.1277G>A (p.Ser426Asn) http://identifiers.org/clinvar/212030 ^@ NM_005045.3(RELN):c.1144-15T>C http://identifiers.org/clinvar/212029 ^@ NM_005045.3(RELN):c.1108G>C (p.Gly370Arg) http://identifiers.org/clinvar/212028 ^@ NM_005045.3(RELN):c.1075G>A (p.Val359Ile) http://identifiers.org/clinvar/212048 ^@ NM_005045.3(RELN):c.795A>G (p.Gln265=) http://identifiers.org/clinvar/212035 ^@ NM_005045.3(RELN):c.329dupT (p.Gly111Argfs) http://identifiers.org/clinvar/212034 ^@ NM_005045.3(RELN):c.246C>G (p.Thr82=) http://identifiers.org/clinvar/212036 ^@ NM_005045.3(RELN):c.32T>G (p.Phe11Cys) http://identifiers.org/clinvar/211359 ^@ NM_002291.2(LAMB1):c.4221C>T (p.Ser1407=) http://identifiers.org/clinvar/211358 ^@ NM_002291.2(LAMB1):c.4067T>C (p.Val1356Ala) http://identifiers.org/clinvar/211357 ^@ NM_002291.2(LAMB1):c.1698+9G>C http://identifiers.org/clinvar/211356 ^@ NM_002291.2(LAMB1):c.1422C>G (p.Ser474=) http://identifiers.org/clinvar/211044 ^@ NM_014491.3(FOXP2):c.282G>T (p.Met94Ile) http://identifiers.org/clinvar/211026 ^@ NM_001458.4(FLNC):c.8003T>C (p.Met2668Thr) http://identifiers.org/clinvar/210744 ^@ NM_014141.5(CNTNAP2):c.718C>T (p.Leu240=) http://identifiers.org/clinvar/210740 ^@ NM_014141.5(CNTNAP2):c.2238C>T (p.Asp746=) http://identifiers.org/clinvar/210741 ^@ NM_014141.5(CNTNAP2):c.2340A>G (p.Ser780=) http://identifiers.org/clinvar/210742 ^@ NM_014141.5(CNTNAP2):c.2717G>A (p.Arg906His) http://identifiers.org/clinvar/210743 ^@ NM_014141.5(CNTNAP2):c.3595G>A (p.Ala1199Thr) http://identifiers.org/clinvar/210967 ^@ NM_004456.4(EZH2):c.2187dupT (p.Asp730Terfs) http://identifiers.org/clinvar/210966 ^@ NM_004456.4(EZH2):c.118-4delT http://identifiers.org/clinvar/212618 ^@ NM_005431.1(XRCC2):c.*1925A>C http://identifiers.org/clinvar/211505 ^@ NM_005515.3(MNX1):c.399_401dupCGC (p.Ala134_Gly135insAla) http://identifiers.org/clinvar/211504 ^@ NM_005515.3(MNX1):c.396_401dupCGCCGC (p.Ala134_Gly135insAlaAla) http://identifiers.org/clinvar/211210 ^@ NM_001101426.3(ISPD):c.1234C>G (p.Leu412Val) http://identifiers.org/clinvar/210514 ^@ NM_198428.2(BBS9):c.2216C>T (p.Ala739Val) http://identifiers.org/clinvar/211083 ^@ NM_000168.5(GLI3):c.3695A>C (p.His1232Pro) http://identifiers.org/clinvar/211082 ^@ NM_000168.5(GLI3):c.1242+8G>A http://identifiers.org/clinvar/211081 ^@ NM_000168.5(GLI3):c.1207G>A (p.Val403Ile) http://identifiers.org/clinvar/211076 ^@ NM_000162.3(GCK):c.835G>C (p.Glu279Gln) http://identifiers.org/clinvar/211075 ^@ NM_000162.3(GCK):c.784G>A (p.Asp262Asn) http://identifiers.org/clinvar/211074 ^@ NM_000162.3(GCK):c.735G>A (p.Glu245=) http://identifiers.org/clinvar/211073 ^@ NM_000162.3(GCK):c.370G>A (p.Asp124Asn) http://identifiers.org/clinvar/211072 ^@ NM_000162.3(GCK):c.333C>T (p.Pro111=) http://identifiers.org/clinvar/211071 ^@ NM_000162.3(GCK):c.317_333del17 (p.Gln106Argfs) http://identifiers.org/clinvar/210221 ^@ NM_014855.2(AP5Z1):c.1600G>T (p.Ala534Ser) http://identifiers.org/clinvar/210065 ^@ NM_152701.4(ABCA13):c.11473+2T>C http://identifiers.org/clinvar/212058 ^@ NM_207111.3(RNF216):c.201A>G (p.Glu67=) http://identifiers.org/clinvar/211953 ^@ NM_000941.2(POR):c.571G>C (p.Val191Leu) http://identifiers.org/clinvar/211952 ^@ NM_000941.2(POR):c.1248+10del http://identifiers.org/clinvar/211418 ^@ NM_012301.3(MAGI2):c.4183_4188dupGGCGGC (p.Gly1396_Ser1397insGlyGly) http://identifiers.org/clinvar/210641 ^@ NM_001259.6(CDK6):c.949A>T (p.Ser317Cys) http://identifiers.org/clinvar/210339 ^@ NM_133436.3(ASNS):c.478delG (p.Glu160Lysfs) http://identifiers.org/clinvar/210338 ^@ NM_133436.3(ASNS):c.413A>T (p.Asp138Val) http://identifiers.org/clinvar/210528 ^@ NM_001715.2(BLK):c.713G>A (p.Arg238Gln) http://identifiers.org/clinvar/211992 ^@ NM_006265.2(RAD21):c.1162-6delT http://identifiers.org/clinvar/211996 ^@ NM_006265.2(RAD21):c.735C>T (p.Pro245=) http://identifiers.org/clinvar/211995 ^@ NM_006265.2(RAD21):c.592_593dupAG (p.Ser198Argfs) http://identifiers.org/clinvar/211994 ^@ NM_006265.2(RAD21):c.579dupA (p.Glu194Argfs) http://identifiers.org/clinvar/211997 ^@ NM_006265.2(RAD21):c.93T>C (p.His31=) http://identifiers.org/clinvar/211993 ^@ NM_006265.2(RAD21):c.56_62delTAGCGGC (p.Leu19Profs) http://identifiers.org/clinvar/211238 ^@ NM_004519.3(KCNQ3):c.2492G>A (p.Arg831Gln) http://identifiers.org/clinvar/211237 ^@ NM_004519.3(KCNQ3):c.1995G>A (p.Ser665=) http://identifiers.org/clinvar/212434 ^@ NM_031466.7(TRAPPC9):c.3586G>C (p.Gly1196Arg) http://identifiers.org/clinvar/212433 ^@ NM_031466.7(TRAPPC9):c.3572C>T (p.Ala1191Val) http://identifiers.org/clinvar/212432 ^@ NM_031466.7(TRAPPC9):c.3469G>A (p.Ala1157Thr) http://identifiers.org/clinvar/212431 ^@ NM_031466.7(TRAPPC9):c.3442C>T (p.Arg1148Trp) http://identifiers.org/clinvar/212429 ^@ NM_031466.7(TRAPPC9):c.3363C>T (p.Asp1121=) http://identifiers.org/clinvar/212428 ^@ NM_031466.7(TRAPPC9):c.3306C>T (p.Asn1102=) http://identifiers.org/clinvar/212427 ^@ NM_031466.7(TRAPPC9):c.3215G>A (p.Arg1072Gln) http://identifiers.org/clinvar/212426 ^@ NM_031466.7(TRAPPC9):c.3176C>T (p.Ala1059Val) http://identifiers.org/clinvar/212425 ^@ NM_031466.7(TRAPPC9):c.2891C>T (p.Pro964Leu) http://identifiers.org/clinvar/212423 ^@ NM_031466.7(TRAPPC9):c.2331G>A (p.Pro777=) http://identifiers.org/clinvar/212421 ^@ NM_031466.7(TRAPPC9):c.2192C>T (p.Ala731Val) http://identifiers.org/clinvar/212420 ^@ NM_031466.7(TRAPPC9):c.2039G>C (p.Gly680Ala) http://identifiers.org/clinvar/212419 ^@ NM_031466.7(TRAPPC9):c.1987G>A (p.Val663Met) http://identifiers.org/clinvar/212418 ^@ NM_031466.7(TRAPPC9):c.1897A>T (p.Thr633Ser) http://identifiers.org/clinvar/212417 ^@ NM_031466.7(TRAPPC9):c.1858G>A (p.Ala620Thr) http://identifiers.org/clinvar/212416 ^@ NM_031466.7(TRAPPC9):c.1620G>A (p.Ser540=) http://identifiers.org/clinvar/212415 ^@ NM_031466.7(TRAPPC9):c.1471G>A (p.Glu491Lys) http://identifiers.org/clinvar/212414 ^@ NM_031466.7(TRAPPC9):c.1458C>T (p.Tyr486=) http://identifiers.org/clinvar/212440 ^@ NM_031466.7(TRAPPC9):c.947T>A (p.Met316Lys) http://identifiers.org/clinvar/212438 ^@ NM_031466.7(TRAPPC9):c.882T>C (p.His294=) http://identifiers.org/clinvar/212437 ^@ NM_031466.7(TRAPPC9):c.563A>G (p.Lys188Arg) http://identifiers.org/clinvar/212436 ^@ NM_031466.7(TRAPPC9):c.557C>T (p.Ser186Leu) http://identifiers.org/clinvar/212435 ^@ NM_031466.7(TRAPPC9):c.453C>T (p.Leu151=) http://identifiers.org/clinvar/212430 ^@ NM_031466.7(TRAPPC9):c.338C>T (p.Thr113Met) http://identifiers.org/clinvar/212424 ^@ NM_031466.7(TRAPPC9):c.284+6C>T http://identifiers.org/clinvar/212422 ^@ NM_031466.7(TRAPPC9):c.222G>C (p.Ala74=) http://identifiers.org/clinvar/212439 ^@ NM_031466.7(TRAPPC9):c.92G>C (p.Arg31Pro) http://identifiers.org/clinvar/211915 ^@ NM_000445.4(PLEC):c.6394G>A (p.Ala2132Thr) http://identifiers.org/clinvar/211914 ^@ NM_000445.4(PLEC):c.5842C>T (p.Arg1948Trp) http://identifiers.org/clinvar/212207 ^@ NM_024531.4(SLC52A2):c.505C>T (p.Arg169Cys) http://identifiers.org/clinvar/212027 ^@ NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val) http://identifiers.org/clinvar/212519 ^@ NM_006765.3(TUSC3):c.484A>G (p.Arg162Gly) http://identifiers.org/clinvar/210736 ^@ NM_018941.3(CLN8):c.470A>G (p.His157Arg) http://identifiers.org/clinvar/210960 ^@ NM_001017420.2(ESCO2):c.862-15del http://identifiers.org/clinvar/210961 ^@ NM_001017420.2(ESCO2):c.894delAinsTTTTAT (p.Glu298Aspfs) http://identifiers.org/clinvar/210962 ^@ NM_001017420.2(ESCO2):c.911dupA (p.Asn304Lysfs) http://identifiers.org/clinvar/210958 ^@ NM_007175.6(ERLIN2):c.740-5C>G http://identifiers.org/clinvar/210959 ^@ NM_007175.6(ERLIN2):c.819+3A>G http://identifiers.org/clinvar/210957 ^@ NM_007175.6(ERLIN2):c.1002_1007delGGCCAC (p.Ala335_Thr336del) http://identifiers.org/clinvar/210840 ^@ NM_015214.2(DDHD2):c.226_227delGGinsTA (p.Gly76Tyr) http://identifiers.org/clinvar/210841 ^@ NM_015214.2(DDHD2):c.387G>C (p.Ser129=) http://identifiers.org/clinvar/210838 ^@ NM_015214.2(DDHD2):c.1127A>G (p.Asp376Gly) http://identifiers.org/clinvar/210839 ^@ NM_015214.2(DDHD2):c.1924A>G (p.Lys642Glu) http://identifiers.org/clinvar/210555 ^@ NM_004056.5(CA8):c.795C>A (p.Gly265=) http://identifiers.org/clinvar/210720 ^@ NM_017780.3(CHD7):c.528dupG (p.Pro177Alafs) http://identifiers.org/clinvar/210725 ^@ NM_017780.3(CHD7):c.694C>A (p.Pro232Thr) http://identifiers.org/clinvar/210712 ^@ NM_017780.3(CHD7):c.1678dupG (p.Glu560Glyfs) http://identifiers.org/clinvar/210714 ^@ NM_017780.3(CHD7):c.2502_2509dupTTATCTTC (p.His837Leufs) http://identifiers.org/clinvar/210715 ^@ NM_017780.3(CHD7):c.2614-14delT http://identifiers.org/clinvar/210716 ^@ NM_017780.3(CHD7):c.2642dupA (p.Tyr881Terfs) http://identifiers.org/clinvar/210717 ^@ NM_017780.3(CHD7):c.2835+8T>C http://identifiers.org/clinvar/210718 ^@ NM_017780.3(CHD7):c.3201+5del http://identifiers.org/clinvar/210719 ^@ NM_017780.3(CHD7):c.5023C>T (p.Gln1675Ter) http://identifiers.org/clinvar/210721 ^@ NM_017780.3(CHD7):c.5638dupG (p.Glu1880Glyfs) http://identifiers.org/clinvar/210722 ^@ NM_017780.3(CHD7):c.6446delG (p.Gly2149Aspfs) http://identifiers.org/clinvar/210723 ^@ NM_017780.3(CHD7):c.6526delG (p.Glu2176Argfs) http://identifiers.org/clinvar/210724 ^@ NM_017780.3(CHD7):c.6825dupC (p.Met2276Hisfs) http://identifiers.org/clinvar/210726 ^@ NM_017780.3(CHD7):c.7940_7941dupTG (p.Pro2648Cysfs) http://identifiers.org/clinvar/212487 ^@ NM_000370.3(TTPA):c.755T>C (p.Met252Thr) http://identifiers.org/clinvar/211448 ^@ NM_024596.4(MCPH1):c.664T>C (p.Cys222Arg) http://identifiers.org/clinvar/211449 ^@ NM_024596.4(MCPH1):c.783T>A (p.Asp261Glu) http://identifiers.org/clinvar/211444 ^@ NM_024596.4(MCPH1):c.1186C>A (p.His396Asn) http://identifiers.org/clinvar/211445 ^@ NM_024596.4(MCPH1):c.1193C>T (p.Ala398Val) http://identifiers.org/clinvar/211446 ^@ NM_024596.4(MCPH1):c.1458A>G (p.Lys486=) http://identifiers.org/clinvar/211447 ^@ NM_024596.4(MCPH1):c.2274C>T (p.Asp758=) http://identifiers.org/clinvar/210792 ^@ NM_024790.6(CSPP1):c.1049+5A>C http://identifiers.org/clinvar/211575 ^@ NM_002485.4(NBN):c.1888T>C (p.Ser630Pro) http://identifiers.org/clinvar/212406 ^@ NM_153704.5(TMEM67):c.271G>A (p.Gly91Arg) http://identifiers.org/clinvar/212409 ^@ NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn) http://identifiers.org/clinvar/212407 ^@ NM_153704.5(TMEM67):c.2806G>A (p.Glu936Lys) http://identifiers.org/clinvar/212408 ^@ NM_153704.5(TMEM67):c.2900A>C (p.Gln967Pro) http://identifiers.org/clinvar/211581 ^@ NM_152416.3(NDUFAF6):c.738T>C (p.Phe246=) http://identifiers.org/clinvar/212575 ^@ NM_017890.4(VPS13B):c.358A>G (p.Ile120Val) http://identifiers.org/clinvar/212581 ^@ NM_017890.4(VPS13B):c.723A>C (p.Thr241=) http://identifiers.org/clinvar/212572 ^@ NM_017890.4(VPS13B):c.1569A>G (p.Thr523=) http://identifiers.org/clinvar/212573 ^@ NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) http://identifiers.org/clinvar/212574 ^@ NM_017890.4(VPS13B):c.3366G>C (p.Lys1122Asn) http://identifiers.org/clinvar/212576 ^@ NM_017890.4(VPS13B):c.5452C>T (p.Arg1818Cys) http://identifiers.org/clinvar/212577 ^@ NM_017890.4(VPS13B):c.5592G>A (p.Gln1864=) http://identifiers.org/clinvar/212578 ^@ NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) http://identifiers.org/clinvar/212579 ^@ NM_017890.4(VPS13B):c.7006A>G (p.Met2336Val) http://identifiers.org/clinvar/212580 ^@ NM_017890.4(VPS13B):c.7226C>T (p.Pro2409Leu) http://identifiers.org/clinvar/212582 ^@ NM_017890.4(VPS13B):c.8572A>G (p.Ile2858Val) http://identifiers.org/clinvar/212583 ^@ NM_017890.4(VPS13B):c.8814G>T (p.Gly2938=) http://identifiers.org/clinvar/212584 ^@ NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter) http://identifiers.org/clinvar/212585 ^@ NM_017890.4(VPS13B):c.9668G>A (p.Arg3223Gln) http://identifiers.org/clinvar/212567 ^@ NM_017890.4(VPS13B):c.10597G>A (p.Val3533Met) http://identifiers.org/clinvar/212568 ^@ NM_017890.4(VPS13B):c.10624A>G (p.Lys3542Glu) http://identifiers.org/clinvar/212569 ^@ NM_017890.4(VPS13B):c.10738G>A (p.Val3580Met) http://identifiers.org/clinvar/212570 ^@ NM_017890.4(VPS13B):c.10920C>T (p.Ala3640=) http://identifiers.org/clinvar/212571 ^@ NM_017890.4(VPS13B):c.11350C>G (p.Gln3784Glu) http://identifiers.org/clinvar/211009 ^@ NM_001079802.1(FKTN):c.370-7G>A http://identifiers.org/clinvar/211542 ^@ NM_005592.3(MUSK):c.79+2T>G http://identifiers.org/clinvar/211541 ^@ NM_005592.3(MUSK):c.374G>T (p.Arg125Leu) http://identifiers.org/clinvar/210639 ^@ NM_018249.5(CDK5RAP2):c.5641G>C (p.Ala1881Pro) http://identifiers.org/clinvar/210638 ^@ NM_018249.5(CDK5RAP2):c.4730C>T (p.Ala1577Val) http://identifiers.org/clinvar/210637 ^@ NM_018249.5(CDK5RAP2):c.4207C>T (p.Arg1403Ter) http://identifiers.org/clinvar/210636 ^@ NM_018249.5(CDK5RAP2):c.4005G>A (p.Arg1335=) http://identifiers.org/clinvar/210635 ^@ NM_018249.5(CDK5RAP2):c.3558C>T (p.Leu1186=) http://identifiers.org/clinvar/210634 ^@ NM_018249.5(CDK5RAP2):c.2003A>G (p.Tyr668Cys) http://identifiers.org/clinvar/210633 ^@ NM_018249.5(CDK5RAP2):c.1906T>G (p.Cys636Gly) http://identifiers.org/clinvar/210632 ^@ NM_018249.5(CDK5RAP2):c.1892C>G (p.Ser631Cys) http://identifiers.org/clinvar/210631 ^@ NM_018249.5(CDK5RAP2):c.1018delG (p.Glu340Lysfs) http://identifiers.org/clinvar/210640 ^@ NM_018249.5(CDK5RAP2):c.66T>C (p.Leu22=) http://identifiers.org/clinvar/212526 ^@ NM_000550.2(TYRP1):c.1138G>T (p.Ala380Ser) http://identifiers.org/clinvar/212527 ^@ NM_000550.2(TYRP1):c.1145T>C (p.Leu382Pro) http://identifiers.org/clinvar/212528 ^@ NM_000550.2(TYRP1):c.1411C>T (p.Arg471Trp) http://identifiers.org/clinvar/212326 ^@ NM_003165.3(STXBP1):c.1029+1G>C http://identifiers.org/clinvar/212327 ^@ NM_003165.3(STXBP1):c.1231T>C (p.Tyr411His) http://identifiers.org/clinvar/212295 ^@ NM_001130438.2(SPTAN1):c.237+4C>T http://identifiers.org/clinvar/212296 ^@ NM_001130438.2(SPTAN1):c.3042T>G (p.Gly1014=) http://identifiers.org/clinvar/212297 ^@ NM_001130438.2(SPTAN1):c.3156-10C>T http://identifiers.org/clinvar/212298 ^@ NM_001130438.2(SPTAN1):c.3579+3_3579+4dup http://identifiers.org/clinvar/211368 ^@ NM_006059.3(LAMC3):c.517C>T (p.Arg173Trp) http://identifiers.org/clinvar/211360 ^@ NM_006059.3(LAMC3):c.1907G>A (p.Arg636His) http://identifiers.org/clinvar/211361 ^@ NM_006059.3(LAMC3):c.1915G>A (p.Val639Ile) http://identifiers.org/clinvar/211362 ^@ NM_006059.3(LAMC3):c.1939G>A (p.Gly647Ser) http://identifiers.org/clinvar/211363 ^@ NM_006059.3(LAMC3):c.2351G>A (p.Arg784Gln) http://identifiers.org/clinvar/211364 ^@ NM_006059.3(LAMC3):c.2352G>A (p.Arg784=) http://identifiers.org/clinvar/211365 ^@ NM_006059.3(LAMC3):c.2949C>T (p.Cys983=) http://identifiers.org/clinvar/211366 ^@ NM_006059.3(LAMC3):c.4130C>T (p.Thr1377Ile) http://identifiers.org/clinvar/211367 ^@ NM_006059.3(LAMC3):c.4160C>T (p.Ala1387Val) http://identifiers.org/clinvar/211519 ^@ NM_003829.4(MPDZ):c.5636G>A (p.Arg1879Lys) http://identifiers.org/clinvar/211518 ^@ NM_003829.4(MPDZ):c.5547T>C (p.Ala1849=) http://identifiers.org/clinvar/211517 ^@ NM_003829.4(MPDZ):c.4810A>G (p.Thr1604Ala) http://identifiers.org/clinvar/211516 ^@ NM_003829.4(MPDZ):c.4807+14A>G http://identifiers.org/clinvar/211515 ^@ NM_003829.4(MPDZ):c.4558-8C>A http://identifiers.org/clinvar/211514 ^@ NM_003829.4(MPDZ):c.4341A>G (p.Val1447=) http://identifiers.org/clinvar/211513 ^@ NM_003829.4(MPDZ):c.3893C>T (p.Pro1298Leu) http://identifiers.org/clinvar/211943 ^@ NM_007171.3(POMT1):c.1002G>T (p.Gly334=) http://identifiers.org/clinvar/211944 ^@ NM_007171.3(POMT1):c.1052+9A>G http://identifiers.org/clinvar/211945 ^@ NM_007171.3(POMT1):c.2125G>A (p.Ala709Thr) http://identifiers.org/clinvar/211946 ^@ NM_007171.3(POMT1):c.2233C>T (p.Arg745Ter) http://identifiers.org/clinvar/211947 ^@ NM_007171.3(POMT1):c.2244G>A (p.Ter748=) http://identifiers.org/clinvar/211512 ^@ NM_003829.4(MPDZ):c.2914C>T (p.Pro972Ser) http://identifiers.org/clinvar/211511 ^@ NM_003829.4(MPDZ):c.2602G>A (p.Gly868Ser) http://identifiers.org/clinvar/211510 ^@ NM_003829.4(MPDZ):c.2580A>G (p.Leu860=) http://identifiers.org/clinvar/211509 ^@ NM_003829.4(MPDZ):c.2105A>T (p.Glu702Val) http://identifiers.org/clinvar/211508 ^@ NM_003829.4(MPDZ):c.2104G>A (p.Glu702Lys) http://identifiers.org/clinvar/211507 ^@ NM_003829.4(MPDZ):c.1197A>G (p.Lys399=) http://identifiers.org/clinvar/211506 ^@ NM_003829.4(MPDZ):c.1041G>C (p.Leu347Phe) http://identifiers.org/clinvar/211521 ^@ NM_003829.4(MPDZ):c.755G>A (p.Trp252Ter) http://identifiers.org/clinvar/211520 ^@ NM_003829.4(MPDZ):c.663C>T (p.Ala221=) http://identifiers.org/clinvar/211239 ^@ NM_020822.2(KCNT1):c.1134C>T (p.Val378=) http://identifiers.org/clinvar/211240 ^@ NM_020822.2(KCNT1):c.1510+4C>T http://identifiers.org/clinvar/211241 ^@ NM_020822.2(KCNT1):c.1533G>A (p.Glu511=) http://identifiers.org/clinvar/211242 ^@ NM_020822.2(KCNT1):c.3157-8C>T http://identifiers.org/clinvar/211243 ^@ NM_020822.2(KCNT1):c.3340C>T (p.Arg1114Trp) http://identifiers.org/clinvar/211244 ^@ NM_020822.2(KCNT1):c.3641G>A (p.Arg1214Gln) http://identifiers.org/clinvar/211184 ^@ NM_019892.5(INPP5E):c.1732G>A (p.Gly578Arg) http://identifiers.org/clinvar/211183 ^@ NM_019892.5(INPP5E):c.1191C>T (p.Ile397=) http://identifiers.org/clinvar/211185 ^@ NM_019892.5(INPP5E):c.875G>A (p.Arg292His) http://identifiers.org/clinvar/210105 ^@ NM_006412.3(AGPAT2):c.475C>T (p.Arg159Cys) http://identifiers.org/clinvar/210104 ^@ NM_006412.3(AGPAT2):c.406G>A (p.Gly136Arg) http://identifiers.org/clinvar/211427 ^@ NM_016219.4(MAN1B1):c.213C>G (p.Cys71Trp) http://identifiers.org/clinvar/211428 ^@ NM_016219.4(MAN1B1):c.466-4A>G http://identifiers.org/clinvar/211429 ^@ NM_016219.4(MAN1B1):c.530_542delTGAAGGATGGGAC (p.Leu177Profs) http://identifiers.org/clinvar/211430 ^@ NM_016219.4(MAN1B1):c.635T>G (p.Val212Gly) http://identifiers.org/clinvar/211431 ^@ NM_016219.4(MAN1B1):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/211419 ^@ NM_016219.4(MAN1B1):c.1287C>T (p.His429=) http://identifiers.org/clinvar/211420 ^@ NM_016219.4(MAN1B1):c.1433A>G (p.Lys478Arg) http://identifiers.org/clinvar/211421 ^@ NM_016219.4(MAN1B1):c.1744C>T (p.Arg582Cys) http://identifiers.org/clinvar/211422 ^@ NM_016219.4(MAN1B1):c.1800C>T (p.Thr600=) http://identifiers.org/clinvar/211423 ^@ NM_016219.4(MAN1B1):c.1825C>T (p.Arg609Cys) http://identifiers.org/clinvar/211424 ^@ NM_016219.4(MAN1B1):c.1828G>A (p.Val610Ile) http://identifiers.org/clinvar/211425 ^@ NM_016219.4(MAN1B1):c.1883G>T (p.Ser628Ile) http://identifiers.org/clinvar/211426 ^@ NM_016219.4(MAN1B1):c.1980C>T (p.Phe660=) http://identifiers.org/clinvar/211110 ^@ NM_007327.3(GRIN1):c.255C>T (p.Ser85=) http://identifiers.org/clinvar/211111 ^@ NM_007327.3(GRIN1):c.357G>A (p.Leu119=) http://identifiers.org/clinvar/211112 ^@ NM_007327.3(GRIN1):c.768G>C (p.Gly256=) http://identifiers.org/clinvar/211107 ^@ NM_007327.3(GRIN1):c.1005T>C (p.Thr335=) http://identifiers.org/clinvar/211108 ^@ NM_007327.3(GRIN1):c.1437G>A (p.Val479=) http://identifiers.org/clinvar/211109 ^@ NM_007327.3(GRIN1):c.2499C>T (p.Ile833=) http://identifiers.org/clinvar/210917 ^@ NM_024757.4(EHMT1):c.159G>T (p.Glu53Asp) http://identifiers.org/clinvar/210928 ^@ NM_024757.4(EHMT1):c.576G>A (p.Pro192=) http://identifiers.org/clinvar/210929 ^@ NM_024757.4(EHMT1):c.797A>G (p.Tyr266Cys) http://identifiers.org/clinvar/210930 ^@ NM_024757.4(EHMT1):c.905A>G (p.Lys302Arg) http://identifiers.org/clinvar/210931 ^@ NM_024757.4(EHMT1):c.981+7G>A http://identifiers.org/clinvar/210916 ^@ NM_024757.4(EHMT1):c.1094A>G (p.Glu365Gly) http://identifiers.org/clinvar/210918 ^@ NM_024757.4(EHMT1):c.1950C>T (p.Thr650=) http://identifiers.org/clinvar/210919 ^@ NM_024757.4(EHMT1):c.2011A>G (p.Thr671Ala) http://identifiers.org/clinvar/210920 ^@ NM_024757.4(EHMT1):c.2642C>T (p.Thr881Ile) http://identifiers.org/clinvar/210921 ^@ NM_024757.4(EHMT1):c.2712+9G>A http://identifiers.org/clinvar/210922 ^@ NM_024757.4(EHMT1):c.2839G>A (p.Ala947Thr) http://identifiers.org/clinvar/210923 ^@ NM_024757.4(EHMT1):c.2996C>T (p.Ala999Val) http://identifiers.org/clinvar/210924 ^@ NM_024757.4(EHMT1):c.3028G>A (p.Val1010Met) http://identifiers.org/clinvar/210925 ^@ NM_024757.4(EHMT1):c.3123C>A (p.Val1041=) http://identifiers.org/clinvar/210926 ^@ NM_024757.4(EHMT1):c.3198C>T (p.Asp1066=) http://identifiers.org/clinvar/210927 ^@ NM_024757.4(EHMT1):c.3864C>T (p.Asp1288=) http://identifiers.org/clinvar/212229 ^@ NM_003070.4(SMARCA2):c.513C>A (p.Pro171=) http://identifiers.org/clinvar/212230 ^@ NM_003070.4(SMARCA2):c.693_707delGCAGCAGCAGCAGCA (p.Gln234_Gln238del) http://identifiers.org/clinvar/212231 ^@ NM_003070.4(SMARCA2):c.699_707delGCAGCAGCA (p.Gln236_Gln238del) http://identifiers.org/clinvar/212223 ^@ NM_003070.4(SMARCA2):c.1296G>C (p.Leu432=) http://identifiers.org/clinvar/212224 ^@ NM_003070.4(SMARCA2):c.1854C>T (p.Asp618=) http://identifiers.org/clinvar/212225 ^@ NM_003070.4(SMARCA2):c.2486C>T (p.Thr829Ile) http://identifiers.org/clinvar/212226 ^@ NM_003070.4(SMARCA2):c.3385G>C (p.Gly1129Arg) http://identifiers.org/clinvar/212227 ^@ NM_003070.4(SMARCA2):c.3493C>A (p.Gln1165Lys) http://identifiers.org/clinvar/212228 ^@ NM_003070.4(SMARCA2):c.4164C>T (p.Asn1388=) http://identifiers.org/clinvar/212557 ^@ NM_003383.4(VLDLR):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/212563 ^@ NM_003383.4(VLDLR):c.75C>T (p.Thr25=) http://identifiers.org/clinvar/212565 ^@ NM_003383.4(VLDLR):c.83-1G>A http://identifiers.org/clinvar/212558 ^@ NM_003383.4(VLDLR):c.315A>G (p.Pro105=) http://identifiers.org/clinvar/212559 ^@ NM_003383.4(VLDLR):c.494G>A (p.Arg165His) http://identifiers.org/clinvar/212560 ^@ NM_003383.4(VLDLR):c.583G>A (p.Ala195Thr) http://identifiers.org/clinvar/212561 ^@ NM_003383.4(VLDLR):c.732C>G (p.Ile244Met) http://identifiers.org/clinvar/212562 ^@ NM_003383.4(VLDLR):c.746G>A (p.Gly249Asp) http://identifiers.org/clinvar/212564 ^@ NM_003383.4(VLDLR):c.792C>T (p.Cys264=) http://identifiers.org/clinvar/212566 ^@ NM_003383.4(VLDLR):c.954C>T (p.Cys318=) http://identifiers.org/clinvar/212551 ^@ NM_003383.4(VLDLR):c.1132T>C (p.Tyr378His) http://identifiers.org/clinvar/212552 ^@ NM_003383.4(VLDLR):c.1162C>T (p.Leu388=) http://identifiers.org/clinvar/212553 ^@ NM_003383.4(VLDLR):c.1532A>G (p.Asn511Ser) http://identifiers.org/clinvar/212554 ^@ NM_003383.4(VLDLR):c.1782G>A (p.Leu594=) http://identifiers.org/clinvar/212555 ^@ NM_003383.4(VLDLR):c.1838G>A (p.Arg613His) http://identifiers.org/clinvar/212556 ^@ NM_003383.4(VLDLR):c.2322A>T (p.Gly774=) http://identifiers.org/clinvar/210965 ^@ NM_016042.3(EXOSC3):c.572G>A (p.Gly191Asp) http://identifiers.org/clinvar/210964 ^@ NM_016042.3(EXOSC3):c.328G>A (p.Val110Ile) http://identifiers.org/clinvar/210963 ^@ NM_016042.3(EXOSC3):c.193G>A (p.Val65Ile) http://identifiers.org/clinvar/211085 ^@ NM_152629.3(GLIS3):c.1694G>A (p.Arg565Gln) http://identifiers.org/clinvar/211084 ^@ NM_152629.3(GLIS3):c.1006G>A (p.Gly336Arg) http://identifiers.org/clinvar/212195 ^@ NM_004170.5(SLC1A1):c.269T>C (p.Ile90Thr) http://identifiers.org/clinvar/211055 ^@ NM_000144.4(FXN):c.179G>A (p.Arg60His) http://identifiers.org/clinvar/212059 ^@ NM_004560.3(ROR2):c.904C>T (p.Arg302Cys) http://identifiers.org/clinvar/210526 ^@ NM_001003800.1(BICD2):c.2080C>T (p.Arg694Cys) http://identifiers.org/clinvar/210975 ^@ NM_000136.2(FANCC):c.*450G>A http://identifiers.org/clinvar/210976 ^@ NM_000136.2(FANCC):c.1330-3C>T http://identifiers.org/clinvar/210977 ^@ NM_000136.2(FANCC):c.843+87T>C http://identifiers.org/clinvar/211155 ^@ NM_024747.5(HPS6):c.698T>G (p.Leu233Arg) http://identifiers.org/clinvar/212273 ^@ NM_005445.3(SMC3):c.859_861dupGAA (p.Glu287_Lys288insGlu) http://identifiers.org/clinvar/212271 ^@ NM_005445.3(SMC3):c.1433_1435dupCAG (p.Ala478_Glu479insAla) http://identifiers.org/clinvar/212272 ^@ NM_005445.3(SMC3):c.2636G>C (p.Arg879Pro) http://identifiers.org/clinvar/210184 ^@ NM_014915.2(ANKRD26):c.4259G>A (p.Cys1420Tyr) http://identifiers.org/clinvar/210182 ^@ NM_014915.2(ANKRD26):c.1571A>G (p.His524Arg) http://identifiers.org/clinvar/210183 ^@ NM_014915.2(ANKRD26):c.243-85_243-76del http://identifiers.org/clinvar/210181 ^@ NM_014915.2(ANKRD26):c.153C>G (p.His51Gln) http://identifiers.org/clinvar/211975 ^@ NM_021252.4(RAB18):c.406G>A (p.Gly136Ser) http://identifiers.org/clinvar/210955 ^@ NM_000124.3(ERCC6):c.2551T>C (p.Trp851Arg) http://identifiers.org/clinvar/210956 ^@ NM_000124.3(ERCC6):c.850_851insT (p.Glu284Valfs) http://identifiers.org/clinvar/210707 ^@ NM_020549.4(CHAT):c.745C>G (p.Leu249Val) http://identifiers.org/clinvar/210145 ^@ NM_020987.4(ANK3):c.13026C>A (p.Ser4342Arg) http://identifiers.org/clinvar/210143 ^@ NM_020987.4(ANK3):c.12752A>G (p.Asn4251Ser) http://identifiers.org/clinvar/210142 ^@ NM_020987.4(ANK3):c.11825A>G (p.Lys3942Arg) http://identifiers.org/clinvar/210141 ^@ NM_020987.4(ANK3):c.11683T>C (p.Ser3895Pro) http://identifiers.org/clinvar/210138 ^@ NM_020987.4(ANK3):c.10055A>G (p.Glu3352Gly) http://identifiers.org/clinvar/210179 ^@ NM_020987.4(ANK3):c.8884G>A (p.Val2962Ile) http://identifiers.org/clinvar/210178 ^@ NM_020987.4(ANK3):c.8746A>G (p.Ile2916Val) http://identifiers.org/clinvar/210177 ^@ NM_020987.4(ANK3):c.8573C>T (p.Ser2858Leu) http://identifiers.org/clinvar/210176 ^@ NM_020987.4(ANK3):c.8534G>A (p.Gly2845Glu) http://identifiers.org/clinvar/210175 ^@ NM_020987.4(ANK3):c.8508T>C (p.His2836=) http://identifiers.org/clinvar/210174 ^@ NM_020987.4(ANK3):c.8308G>A (p.Ala2770Thr) http://identifiers.org/clinvar/210173 ^@ NM_020987.4(ANK3):c.7672C>T (p.Arg2558Cys) http://identifiers.org/clinvar/210172 ^@ NM_020987.4(ANK3):c.7517T>C (p.Ile2506Thr) http://identifiers.org/clinvar/210171 ^@ NM_020987.4(ANK3):c.7469C>T (p.Pro2490Leu) http://identifiers.org/clinvar/210170 ^@ NM_020987.4(ANK3):c.7363G>C (p.Glu2455Gln) http://identifiers.org/clinvar/210169 ^@ NM_020987.4(ANK3):c.6955G>A (p.Asp2319Asn) http://identifiers.org/clinvar/210168 ^@ NM_020987.4(ANK3):c.6555G>T (p.Gln2185His) http://identifiers.org/clinvar/210167 ^@ NM_020987.4(ANK3):c.6121A>G (p.Ile2041Val) http://identifiers.org/clinvar/210166 ^@ NM_020987.4(ANK3):c.6073G>A (p.Glu2025Lys) http://identifiers.org/clinvar/210165 ^@ NM_020987.4(ANK3):c.6072C>T (p.Ser2024=) http://identifiers.org/clinvar/210164 ^@ NM_020987.4(ANK3):c.5667G>C (p.Leu1889Phe) http://identifiers.org/clinvar/210163 ^@ NM_020987.4(ANK3):c.5479G>C (p.Val1827Leu) http://identifiers.org/clinvar/210162 ^@ NM_020987.4(ANK3):c.4585T>C (p.Ser1529Pro) http://identifiers.org/clinvar/210161 ^@ NM_020987.4(ANK3):c.4465C>T (p.Pro1489Ser) http://identifiers.org/clinvar/210160 ^@ NM_020987.4(ANK3):c.4400A>G (p.Lys1467Arg) http://identifiers.org/clinvar/210159 ^@ NM_020987.4(ANK3):c.4110T>C (p.Tyr1370=) http://identifiers.org/clinvar/210158 ^@ NM_020987.4(ANK3):c.4029G>A (p.Glu1343=) http://identifiers.org/clinvar/210157 ^@ NM_020987.4(ANK3):c.3865C>A (p.His1289Asn) http://identifiers.org/clinvar/210156 ^@ NM_020987.4(ANK3):c.3105C>G (p.Pro1035=) http://identifiers.org/clinvar/210154 ^@ NM_020987.4(ANK3):c.2976G>A (p.Ala992=) http://identifiers.org/clinvar/210153 ^@ NM_020987.4(ANK3):c.2916T>C (p.Asn972=) http://identifiers.org/clinvar/210152 ^@ NM_020987.4(ANK3):c.2889C>T (p.Tyr963=) http://identifiers.org/clinvar/210151 ^@ NM_020987.4(ANK3):c.2457C>T (p.Thr819=) http://identifiers.org/clinvar/210150 ^@ NM_020987.4(ANK3):c.2385T>C (p.Asn795=) http://identifiers.org/clinvar/210149 ^@ NM_020987.4(ANK3):c.2322G>C (p.Gly774=) http://identifiers.org/clinvar/210148 ^@ NM_020987.4(ANK3):c.2103C>T (p.Leu701=) http://identifiers.org/clinvar/210146 ^@ NM_020987.4(ANK3):c.1690-5_1690-4dup http://identifiers.org/clinvar/210147 ^@ NM_020987.4(ANK3):c.1690-6_1690-4dup http://identifiers.org/clinvar/210144 ^@ NM_020987.4(ANK3):c.1290C>G (p.Thr430=) http://identifiers.org/clinvar/210140 ^@ NM_020987.4(ANK3):c.1077C>T (p.Pro359=) http://identifiers.org/clinvar/210139 ^@ NM_020987.4(ANK3):c.1047C>T (p.Cys349=) http://identifiers.org/clinvar/210155 ^@ NM_020987.4(ANK3):c.302A>T (p.Asp101Val) http://identifiers.org/clinvar/211259 ^@ NM_015634.3(KIF1BP):c.556C>T (p.Arg186Cys) http://identifiers.org/clinvar/211260 ^@ NM_015634.3(KIF1BP):c.562C>A (p.Leu188Ile) http://identifiers.org/clinvar/211258 ^@ NM_015634.3(KIF1BP):c.1326A>G (p.Arg442=) http://identifiers.org/clinvar/212200 ^@ NM_018344.5(SLC29A3):c.73C>T (p.Arg25Ter) http://identifiers.org/clinvar/211214 ^@ NM_012330.3(KAT6B):c.3310_3312delGAA (p.Glu1104del) http://identifiers.org/clinvar/211232 ^@ NM_002247.3(KCNMA1):c.2877C>T (p.Asp959=) http://identifiers.org/clinvar/211930 ^@ NM_007055.3(POLR3A):c.2938A>G (p.Ile980Val) http://identifiers.org/clinvar/211931 ^@ NM_007055.3(POLR3A):c.927C>T (p.Asp309=) http://identifiers.org/clinvar/211086 ^@ NM_005271.4(GLUD1):c.1498G>A (p.Ala500Thr) http://identifiers.org/clinvar/211087 ^@ NM_005271.4(GLUD1):c.445+7G>A http://identifiers.org/clinvar/211972 ^@ NM_000314.6(PTEN):c.900delC (p.Ile300Metfs) http://identifiers.org/clinvar/210992 ^@ NM_000043.5(FAS):c.369G>A (p.Gln123=) http://identifiers.org/clinvar/211271 ^@ NM_004523.3(KIF11):c.-1_2delCATinsAA http://identifiers.org/clinvar/211274 ^@ NM_004523.3(KIF11):c.436A>T (p.Lys146Ter) http://identifiers.org/clinvar/211275 ^@ NM_004523.3(KIF11):c.699-7_705del http://identifiers.org/clinvar/211272 ^@ NM_004523.3(KIF11):c.1879G>T (p.Val627Leu) http://identifiers.org/clinvar/211273 ^@ NM_004523.3(KIF11):c.2771-6T>A http://identifiers.org/clinvar/212391 ^@ NM_015631.5(TCTN3):c.1268G>A (p.Gly423Glu) http://identifiers.org/clinvar/212390 ^@ NM_015631.5(TCTN3):c.1030G>A (p.Gly344Arg) http://identifiers.org/clinvar/212392 ^@ NM_015631.5(TCTN3):c.224C>T (p.Ala75Val) http://identifiers.org/clinvar/212641 ^@ NM_001002261.3(ZFYVE27):c.800C>T (p.Thr267Met) http://identifiers.org/clinvar/211148 ^@ NM_000195.4(HPS1):c.2052C>T (p.Ala684=) http://identifiers.org/clinvar/211147 ^@ NM_000195.4(HPS1):c.1531C>A (p.Arg511=) http://identifiers.org/clinvar/211150 ^@ NM_000195.4(HPS1):c.557C>T (p.Ala186Val) http://identifiers.org/clinvar/211149 ^@ NM_000195.4(HPS1):c.478C>T (p.Arg160Trp) http://identifiers.org/clinvar/210372 ^@ NM_000051.3(ATM):c.1990A>G (p.Thr664Ala) http://identifiers.org/clinvar/212145 ^@ NM_003002.3(SDHD):c.312C>T (p.His104=) http://identifiers.org/clinvar/211313 ^@ NM_001197104.1(KMT2A):c.1504G>A (p.Glu502Lys) http://identifiers.org/clinvar/211314 ^@ NM_001197104.1(KMT2A):c.1810A>G (p.Met604Val) http://identifiers.org/clinvar/211315 ^@ NM_001197104.1(KMT2A):c.6811delA (p.Arg2271Glyfs) http://identifiers.org/clinvar/211312 ^@ NM_001197104.1(KMT2A):c.11084C>G (p.Ser3695Ter) http://identifiers.org/clinvar/210588 ^@ NM_005188.3(CBL):c.*559_*560insC http://identifiers.org/clinvar/210589 ^@ NM_005188.3(CBL):c.*560_*561insAT http://identifiers.org/clinvar/211305 ^@ NM_032531.3(KIRREL3):c.1991C>T (p.Ala664Val) http://identifiers.org/clinvar/211304 ^@ NM_032531.3(KIRREL3):c.1983G>A (p.Leu661=) http://identifiers.org/clinvar/211302 ^@ NM_032531.3(KIRREL3):c.1395G>A (p.Ser465=) http://identifiers.org/clinvar/211308 ^@ NM_032531.3(KIRREL3):c.870C>A (p.Ile290=) http://identifiers.org/clinvar/211307 ^@ NM_032531.3(KIRREL3):c.396C>T (p.Ala132=) http://identifiers.org/clinvar/211306 ^@ NM_032531.3(KIRREL3):c.207C>T (p.Cys69=) http://identifiers.org/clinvar/211303 ^@ NM_032531.3(KIRREL3):c.183G>A (p.Ser61=) http://identifiers.org/clinvar/211309 ^@ NM_032531.3(KIRREL3):c.88G>A (p.Val30Met) http://identifiers.org/clinvar/211222 ^@ NM_000525.3(KCNJ11):c.1140_1141insAAGCCC (p.Lys381_Phe382insProLys) http://identifiers.org/clinvar/211220 ^@ NM_000525.3(KCNJ11):c.1064T>C (p.Leu355Pro) http://identifiers.org/clinvar/211219 ^@ NM_000525.3(KCNJ11):c.1017G>T (p.Val339=) http://identifiers.org/clinvar/211231 ^@ NM_000525.3(KCNJ11):c.934G>A (p.Gly312Ser) http://identifiers.org/clinvar/211230 ^@ NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) http://identifiers.org/clinvar/211229 ^@ NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val) http://identifiers.org/clinvar/211228 ^@ NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala) http://identifiers.org/clinvar/211227 ^@ NM_000525.3(KCNJ11):c.843C>T (p.Leu281=) http://identifiers.org/clinvar/211225 ^@ NM_000525.3(KCNJ11):c.726C>T (p.Asn242=) http://identifiers.org/clinvar/211224 ^@ NM_000525.3(KCNJ11):c.567C>T (p.Ile189=) http://identifiers.org/clinvar/211223 ^@ NM_000525.3(KCNJ11):c.526C>T (p.Arg176Cys) http://identifiers.org/clinvar/211221 ^@ NM_000525.3(KCNJ11):c.108G>A (p.Val36=) http://identifiers.org/clinvar/211226 ^@ NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) http://identifiers.org/clinvar/210081 ^@ NM_000352.4(ABCC8):c.4516_4536dup21 (p.Asp1512_Met1513insGluAlaThrAlaSerIleAsp) http://identifiers.org/clinvar/210080 ^@ NM_000352.4(ABCC8):c.4482C>T (p.Ala1494=) http://identifiers.org/clinvar/210079 ^@ NM_000352.4(ABCC8):c.4314C>T (p.Asn1438=) http://identifiers.org/clinvar/210078 ^@ NM_000352.4(ABCC8):c.4119+1G>A http://identifiers.org/clinvar/210077 ^@ NM_000352.4(ABCC8):c.3755A>G (p.Glu1252Gly) http://identifiers.org/clinvar/210076 ^@ NM_000352.4(ABCC8):c.3544C>T (p.Arg1182Trp) http://identifiers.org/clinvar/210075 ^@ NM_000352.4(ABCC8):c.3345G>A (p.Thr1115=) http://identifiers.org/clinvar/210072 ^@ NM_000352.4(ABCC8):c.2117-1G>A http://identifiers.org/clinvar/210071 ^@ NM_000352.4(ABCC8):c.1858C>T (p.Arg620Cys) http://identifiers.org/clinvar/210070 ^@ NM_000352.4(ABCC8):c.1707C>T (p.Ala569=) http://identifiers.org/clinvar/210069 ^@ NM_000352.4(ABCC8):c.1532T>C (p.Leu511Pro) http://identifiers.org/clinvar/210068 ^@ NM_000352.4(ABCC8):c.1384A>G (p.Ile462Val) http://identifiers.org/clinvar/210067 ^@ NM_000352.4(ABCC8):c.1252T>C (p.Cys418Arg) http://identifiers.org/clinvar/210066 ^@ NM_000352.4(ABCC8):c.1063G>A (p.Ala355Thr) http://identifiers.org/clinvar/210084 ^@ NM_000352.4(ABCC8):c.947G>A (p.Gly316Glu) http://identifiers.org/clinvar/210083 ^@ NM_000352.4(ABCC8):c.806C>T (p.Ala269Val) http://identifiers.org/clinvar/210082 ^@ NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser) http://identifiers.org/clinvar/210074 ^@ NM_000352.4(ABCC8):c.331G>A (p.Gly111Arg) http://identifiers.org/clinvar/210073 ^@ NM_000352.4(ABCC8):c.239T>G (p.Met80Arg) http://identifiers.org/clinvar/212410 ^@ NM_003282.3(TNNI2):c.453+5G>A http://identifiers.org/clinvar/212411 ^@ NM_003282.3(TNNI2):c.525G>T (p.Lys175Asn) http://identifiers.org/clinvar/211186 ^@ NM_000207.2(INS):c.188-31G>A http://identifiers.org/clinvar/210983 ^@ NM_022725.3(FANCF):c.*1879T>C http://identifiers.org/clinvar/210647 ^@ NM_000076.2(CDKN1C):c.694C>T (p.Gln232Ter) http://identifiers.org/clinvar/211405 ^@ NM_002334.3(LRP4):c.3817C>A (p.Arg1273=) http://identifiers.org/clinvar/211973 ^@ NM_002843.3(PTPRJ):c.1253G>A (p.Arg418His) http://identifiers.org/clinvar/210545 ^@ NM_032667.6(BSCL2):c.839C>T (p.Ser280Phe) http://identifiers.org/clinvar/210544 ^@ NM_032667.6(BSCL2):c.813+4G>T http://identifiers.org/clinvar/211710 ^@ NM_138732.2(NRXN2):c.4412A>T (p.Asp1471Val) http://identifiers.org/clinvar/211709 ^@ NM_138732.2(NRXN2):c.4227C>T (p.Ala1409=) http://identifiers.org/clinvar/211708 ^@ NM_138732.2(NRXN2):c.3755C>T (p.Ala1252Val) http://identifiers.org/clinvar/211707 ^@ NM_138732.2(NRXN2):c.3637+9C>T http://identifiers.org/clinvar/211706 ^@ NM_138732.2(NRXN2):c.3283C>T (p.Pro1095Ser) http://identifiers.org/clinvar/211705 ^@ NM_138732.2(NRXN2):c.3093C>G (p.Leu1031=) http://identifiers.org/clinvar/211704 ^@ NM_138732.2(NRXN2):c.2798+6G>A http://identifiers.org/clinvar/211703 ^@ NM_138732.2(NRXN2):c.2763C>T (p.Asn921=) http://identifiers.org/clinvar/211702 ^@ NM_138732.2(NRXN2):c.2557A>G (p.Met853Val) http://identifiers.org/clinvar/211701 ^@ NM_138732.2(NRXN2):c.2417-8C>T http://identifiers.org/clinvar/211700 ^@ NM_138732.2(NRXN2):c.2343T>C (p.Asn781=) http://identifiers.org/clinvar/211699 ^@ NM_138732.2(NRXN2):c.2321C>T (p.Ala774Val) http://identifiers.org/clinvar/211698 ^@ NM_138732.2(NRXN2):c.2188A>T (p.Met730Leu) http://identifiers.org/clinvar/211697 ^@ NM_138732.2(NRXN2):c.1487A>G (p.Asn496Ser) http://identifiers.org/clinvar/211696 ^@ NM_138732.2(NRXN2):c.1193T>C (p.Ile398Thr) http://identifiers.org/clinvar/211714 ^@ NM_138732.2(NRXN2):c.822C>T (p.Phe274=) http://identifiers.org/clinvar/211713 ^@ NM_138732.2(NRXN2):c.670C>T (p.Pro224Ser) http://identifiers.org/clinvar/211712 ^@ NM_138732.2(NRXN2):c.598G>A (p.Ala200Thr) http://identifiers.org/clinvar/211711 ^@ NM_138732.2(NRXN2):c.49C>G (p.Leu17Val) http://identifiers.org/clinvar/211816 ^@ NM_018026.3(PACS1):c.83C>G (p.Ser28Cys) http://identifiers.org/clinvar/211810 ^@ NM_018026.3(PACS1):c.101_103dupCGC (p.Pro34_Gln35insPro) http://identifiers.org/clinvar/211811 ^@ NM_018026.3(PACS1):c.104A>C (p.Gln35Pro) http://identifiers.org/clinvar/211812 ^@ NM_018026.3(PACS1):c.135G>T (p.Pro45=) http://identifiers.org/clinvar/211813 ^@ NM_018026.3(PACS1):c.1803C>T (p.Ala601=) http://identifiers.org/clinvar/211814 ^@ NM_018026.3(PACS1):c.2139C>T (p.Tyr713=) http://identifiers.org/clinvar/211815 ^@ NM_018026.3(PACS1):c.2776+5G>A http://identifiers.org/clinvar/212299 ^@ NM_006946.2(SPTBN2):c.1043A>T (p.Asn348Ile) http://identifiers.org/clinvar/212300 ^@ NM_006946.2(SPTBN2):c.181A>G (p.Lys61Glu) http://identifiers.org/clinvar/212172 ^@ NM_133266.4(SHANK2):c.3711C>T (p.Leu1237=) http://identifiers.org/clinvar/212170 ^@ NM_133266.4(SHANK2):c.3387G>A (p.Met1129Ile) http://identifiers.org/clinvar/212169 ^@ NM_133266.4(SHANK2):c.3257C>T (p.Thr1086Met) http://identifiers.org/clinvar/212168 ^@ NM_133266.4(SHANK2):c.3227T>C (p.Ile1076Thr) http://identifiers.org/clinvar/212167 ^@ NM_133266.4(SHANK2):c.3162G>A (p.Pro1054=) http://identifiers.org/clinvar/212166 ^@ NM_133266.4(SHANK2):c.2431G>A (p.Val811Met) http://identifiers.org/clinvar/212165 ^@ NM_133266.4(SHANK2):c.2419C>T (p.Pro807Ser) http://identifiers.org/clinvar/212164 ^@ NM_133266.4(SHANK2):c.2366C>T (p.Ala789Val) http://identifiers.org/clinvar/212163 ^@ NM_133266.4(SHANK2):c.2196C>T (p.Asp732=) http://identifiers.org/clinvar/212162 ^@ NM_133266.4(SHANK2):c.2124G>A (p.Lys708=) http://identifiers.org/clinvar/212161 ^@ NM_133266.4(SHANK2):c.1535C>T (p.Pro512Leu) http://identifiers.org/clinvar/212174 ^@ NM_133266.4(SHANK2):c.689G>A (p.Arg230His) http://identifiers.org/clinvar/212173 ^@ NM_133266.4(SHANK2):c.504G>A (p.Leu168=) http://identifiers.org/clinvar/212171 ^@ NM_133266.4(SHANK2):c.358G>A (p.Gly120Arg) http://identifiers.org/clinvar/212542 ^@ NM_003355.2(UCP2):c.816-2A>G http://identifiers.org/clinvar/212541 ^@ NM_003355.2(UCP2):c.446G>A (p.Arg149Gln) http://identifiers.org/clinvar/212540 ^@ NM_003355.2(UCP2):c.156C>T (p.Arg52=) http://identifiers.org/clinvar/212539 ^@ NM_003355.2(UCP2):c.115G>A (p.Val39Ile) http://identifiers.org/clinvar/212199 ^@ NM_024698.5(SLC25A22):c.885C>T (p.Ile295=) http://identifiers.org/clinvar/212198 ^@ NM_024698.5(SLC25A22):c.418C>T (p.Gln140Ter) http://identifiers.org/clinvar/212522 ^@ NM_000372.4(TYR):c.446A>G (p.Tyr149Cys) http://identifiers.org/clinvar/212523 ^@ NM_000372.4(TYR):c.658C>T (p.Gln220Ter) http://identifiers.org/clinvar/212524 ^@ NM_000372.4(TYR):c.661G>A (p.Glu221Lys) http://identifiers.org/clinvar/212525 ^@ NM_000372.4(TYR):c.982G>A (p.Glu328Lys) http://identifiers.org/clinvar/212520 ^@ NM_000372.4(TYR):c.1064C>T (p.Ala355Val) http://identifiers.org/clinvar/212521 ^@ NM_000372.4(TYR):c.1234C>G (p.Pro412Ala) http://identifiers.org/clinvar/211482 ^@ NM_004268.4(MED17):c.390C>G (p.Val130=) http://identifiers.org/clinvar/211483 ^@ NM_004268.4(MED17):c.690C>T (p.Leu230=) http://identifiers.org/clinvar/211480 ^@ NM_004268.4(MED17):c.1449C>G (p.Gly483=) http://identifiers.org/clinvar/211481 ^@ NM_004268.4(MED17):c.1500G>A (p.Glu500=) http://identifiers.org/clinvar/212116 ^@ NM_030962.3(SBF2):c.4076C>T (p.Ala1359Val) http://identifiers.org/clinvar/211543 ^@ NM_002465.3(MYBPC1):c.129C>T (p.Ser43=) http://identifiers.org/clinvar/211545 ^@ NM_002465.3(MYBPC1):c.594T>C (p.Ser198=) http://identifiers.org/clinvar/211546 ^@ NM_002465.3(MYBPC1):c.608+9A>G http://identifiers.org/clinvar/211544 ^@ NM_002465.3(MYBPC1):c.1946T>C (p.Val649Ala) http://identifiers.org/clinvar/211932 ^@ NM_018082.5(POLR3B):c.1102C>T (p.Leu368Phe) http://identifiers.org/clinvar/211933 ^@ NM_018082.5(POLR3B):c.1612_1614delCTT (p.Leu538del) http://identifiers.org/clinvar/219121 ^@ NM_002582.3(PARN):c.962+295_1263-8706del http://identifiers.org/clinvar/219122 ^@ NM_001286209.1(GAS8):c.852C>A (p.Cys284Ter) http://identifiers.org/clinvar/219123 ^@ NM_001286209.1(GAS8):c.925C>T (p.Arg309Ter) http://identifiers.org/clinvar/219124 ^@ NM_001286209.1(GAS8):c.994C>T (p.Gln332Ter) http://identifiers.org/clinvar/219125 ^@ NM_006895.2(HNMT):c.179G>A (p.Gly60Asp) http://identifiers.org/clinvar/219126 ^@ NM_006895.2(HNMT):c.623T>C (p.Leu208Pro) http://identifiers.org/clinvar/219127 ^@ NM_020401.3(NUP107):c.2492A>C (p.Asp831Ala) http://identifiers.org/clinvar/219128 ^@ NM_020401.3(NUP107):c.1079_1083delAAGAG (p.Glu360Glyfs) http://identifiers.org/clinvar/219129 ^@ NM_020401.3(NUP107):c.969+1G>A http://identifiers.org/clinvar/219130 ^@ NM_020401.3(NUP107):c.469G>T (p.Asp157Tyr) http://identifiers.org/clinvar/219133 ^@ NM_001098816.2(TENM4):c.4100C>A (p.Thr1367Asn) http://identifiers.org/clinvar/219134 ^@ NM_001098816.2(TENM4):c.4324G>A (p.Ala1442Thr) http://identifiers.org/clinvar/219135 ^@ NM_001098816.2(TENM4):c.3412G>A (p.Val1138Met) http://identifiers.org/clinvar/219139 ^@ NM_100264.2(WAC):c.128_131delAGAG (p.Glu43Glyfs) http://identifiers.org/clinvar/219140 ^@ NM_100264.2(WAC):c.1586G>A (p.Trp529Ter) http://identifiers.org/clinvar/219141 ^@ NM_100264.2(WAC):c.132_133dupGG (p.Asp45Glyfs) http://identifiers.org/clinvar/219142 ^@ NM_100264.2(WAC):c.239C>A (p.Ser80Ter) http://identifiers.org/clinvar/219143 ^@ NM_100264.2(WAC):c.1717C>T (p.Gln573Ter) http://identifiers.org/clinvar/219144 ^@ NM_016628.4(WAC):c.112delA (p.Ser38Alafs) http://identifiers.org/clinvar/219151 ^@ NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) http://identifiers.org/clinvar/219152 ^@ NM_003000.2(SDHB):c.338G>C (p.Cys113Ser) http://identifiers.org/clinvar/219153 ^@ NM_003000.2(SDHB):c.251A>C (p.Asp84Ala) http://identifiers.org/clinvar/219154 ^@ NM_003000.2(SDHB):c.227T>G (p.Leu76Ter) http://identifiers.org/clinvar/219155 ^@ NM_003000.2(SDHB):c.131_139delTCTATCGAT (p.Ile44_Trp47delinsArg) http://identifiers.org/clinvar/219160 ^@ NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) http://identifiers.org/clinvar/219157 ^@ NM_000551.3(VHL):c.479A>T (p.Glu160Val) http://identifiers.org/clinvar/219159 ^@ NM_000551.3(VHL):c.509T>C (p.Val170Ala) http://identifiers.org/clinvar/219158 ^@ NM_000551.3(VHL):c.548C>G (p.Ser183Trp) http://identifiers.org/clinvar/219156 ^@ NM_000551.3(VHL):c.588_588dupA (p.Asp197Argfs) http://identifiers.org/clinvar/219161 ^@ NM_003002.3(SDHD):c.386delT http://identifiers.org/clinvar/219162 ^@ NM_005123.3(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys) http://identifiers.org/clinvar/219164 ^@ NM_005123.3(NR1H4):c.526C>T (p.Arg176Ter) http://identifiers.org/clinvar/219163 ^@ NC_000012.11:g.100886254_100917988del31735 http://identifiers.org/clinvar/219169 ^@ NM_004387.3(NKX2-5):c.443C>A (p.Ala148Glu) http://identifiers.org/clinvar/219168 ^@ NM_004387.3(NKX2-5):c.391G>A (p.Glu131Lys) http://identifiers.org/clinvar/219165 ^@ NM_004387.3(NKX2-5):c.335-1G>T http://identifiers.org/clinvar/219166 ^@ NM_004387.3(NKX2-5):c.335-12G>A http://identifiers.org/clinvar/219167 ^@ NM_004387.3(NKX2-5):c.335-20G>A http://identifiers.org/clinvar/219170 ^@ NM_004387.3(NKX2-5):c.182C>G (p.Ala61Gly) http://identifiers.org/clinvar/219171 ^@ NM_000350.2(ABCA4):c.1645G>A (p.Ala549Thr) http://identifiers.org/clinvar/219177 ^@ NM_000094.3(COL7A1):c.5000G>A (p.Gly1667Glu) http://identifiers.org/clinvar/219174 ^@ NM_001148.4(ANK2):c.10243A>G (p.Thr3415Ala) http://identifiers.org/clinvar/219175 ^@ NM_001006630.1(CHRM2):c.1189A>G (p.Ile397Val) http://identifiers.org/clinvar/219179 ^@ NM_033507.1(GCK):c.1033G>T (p.Asp345Tyr) http://identifiers.org/clinvar/219176 ^@ NM_017882.2(CLN6):c.775G>C (p.Gly259Arg) http://identifiers.org/clinvar/219172 ^@ NM_001270447.1(ACADVL):c.1768C>T (p.Arg590Trp) http://identifiers.org/clinvar/219173 ^@ NM_001169124.1(AFF2):c.*4554C>G http://identifiers.org/clinvar/219178 ^@ NM_021120.3(DLG3):c.532G>T (p.Gly178Trp) http://identifiers.org/clinvar/219181 ^@ NM_147127.4(EVC2):c.3141G>A (p.Trp1047Ter) http://identifiers.org/clinvar/219180 ^@ NM_147127.4(EVC2):c.2746delA (p.Ser916Alafs) http://identifiers.org/clinvar/219183 ^@ NM_025074.6(FRAS1):c.5664_5665+19delinsT http://identifiers.org/clinvar/219182 ^@ NM_025074.6(FRAS1):c.10287delC (p.Tyr3429Terfs) http://identifiers.org/clinvar/219187 ^@ NM_173630.3(RTTN):c.5750A>G (p.Asp1917Gly) http://identifiers.org/clinvar/219185 ^@ NM_173630.3(RTTN):c.3190A>C (p.Lys1064Gln) http://identifiers.org/clinvar/219184 ^@ NM_173630.3(RTTN):c.2885+8A>G http://identifiers.org/clinvar/219186 ^@ NM_173630.3(RTTN):c.1732G>C (p.Ala578Pro) http://identifiers.org/clinvar/219190 ^@ NM_032504.1(UNC80):c.565G>A (p.Val189Met) http://identifiers.org/clinvar/219189 ^@ NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) http://identifiers.org/clinvar/219188 ^@ NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) http://identifiers.org/clinvar/219191 ^@ NM_178526.4(SLC25A42):c.871A>G (p.Asn291Asp) http://identifiers.org/clinvar/219192 ^@ NM_002449.4(MSX2):c.443C>T (p.Pro148Leu) http://identifiers.org/clinvar/219193 ^@ NM_015570.3(AUTS2):c.857_858delAA (p.Lys286Argfs) http://identifiers.org/clinvar/219194 ^@ NC_000007.14:g.(70520857_70526873)_(70756273_70763034)del http://identifiers.org/clinvar/219195 ^@ NM_004817.3(TJP2):c.2668-1G>T http://identifiers.org/clinvar/219196 ^@ NM_004817.3(TJP2):c.2438dupT (p.Asn814Glnfs) http://identifiers.org/clinvar/219197 ^@ NM_004817.3(TJP2):c.817delG (p.Ala273Profs) http://identifiers.org/clinvar/219198 ^@ NM_001080517.2(SETD5):c.2302C>T (p.Arg768Ter) http://identifiers.org/clinvar/219199 ^@ NM_001080517.2(SETD5):c.547_567+60del http://identifiers.org/clinvar/219223 ^@ NM_004421.2(DVL1):c.1522delC (p.Pro508Leufs) http://identifiers.org/clinvar/219218 ^@ NM_004423.3(DVL3):c.1585delG (p.Ala529Profs) http://identifiers.org/clinvar/219219 ^@ NM_004423.3(DVL3):c.1715-2A>G http://identifiers.org/clinvar/219220 ^@ NM_004423.3(DVL3):c.1715-1G>A http://identifiers.org/clinvar/219221 ^@ NM_004423.3(DVL3):c.1716delC (p.Ser573Valfs) http://identifiers.org/clinvar/219222 ^@ NM_004423.3(DVL3):c.1749delC (p.Ser583Argfs) http://identifiers.org/clinvar/219224 ^@ NM_003361.3(UMOD):c.-1746T>C http://identifiers.org/clinvar/219226 ^@ NM_002052.4(GATA4):c.23C>A (p.Ala8Asp) http://identifiers.org/clinvar/219227 ^@ NM_002052.4(GATA4):c.25G>A (p.Ala9Thr) http://identifiers.org/clinvar/219231 ^@ NM_002052.4(GATA4):c.27C>A (p.Ala9=) http://identifiers.org/clinvar/219228 ^@ NM_002052.4(GATA4):c.383A>T (p.Glu128Val) http://identifiers.org/clinvar/219229 ^@ NM_002052.4(GATA4):c.397A>T (p.Ser133Cys) http://identifiers.org/clinvar/219230 ^@ NM_002052.4(GATA4):c.682T>A (p.Trp228Arg) http://identifiers.org/clinvar/219233 ^@ NM_002052.4(GATA4):c.997+2T>G http://identifiers.org/clinvar/219232 ^@ NM_002052.4(GATA4):c.1263C>T (p.Ser421=) http://identifiers.org/clinvar/219239 ^@ NM_172107.3(KCNQ2):c.2147C>T (p.Thr716Ile) http://identifiers.org/clinvar/219237 ^@ NM_172107.3(KCNQ2):c.943G>C (p.Gly315Arg) http://identifiers.org/clinvar/219235 ^@ NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) http://identifiers.org/clinvar/219234 ^@ NM_172107.3(KCNQ2):c.850T>G (p.Tyr284Asp) http://identifiers.org/clinvar/219236 ^@ NM_172107.3(KCNQ2):c.803T>C (p.Leu268Pro) http://identifiers.org/clinvar/219240 ^@ NM_172107.3(KCNQ2):c.775G>T (p.Asp259Tyr) http://identifiers.org/clinvar/219238 ^@ NM_172107.3(KCNQ2):c.388G>A (p.Glu130Lys) http://identifiers.org/clinvar/219241 ^@ NM_172107.3(KCNQ2):c.319C>T (p.Leu107Phe) http://identifiers.org/clinvar/219243 ^@ NM_198173.2(GRHL3):c.738C>T (p.Gly246=) http://identifiers.org/clinvar/219244 ^@ NM_198173.2(GRHL3):c.840+1G>T http://identifiers.org/clinvar/219245 ^@ NM_198173.2(GRHL3):c.916delCinsCC (p.Arg306Profs) http://identifiers.org/clinvar/219246 ^@ NM_198173.2(GRHL3):c.1285+2delT http://identifiers.org/clinvar/219249 ^@ NM_004230.3(S1PR2):c.419A>G (p.Tyr140Cys) http://identifiers.org/clinvar/219258 ^@ NM_001173464.1(KIF21A):c.84C>G (p.Cys28Trp) http://identifiers.org/clinvar/219254 ^@ NM_006086.3(TUBB3):c.185G>A (p.Arg62Gln) http://identifiers.org/clinvar/219255 ^@ NM_006086.3(TUBB3):c.211G>A (p.Gly71Arg) http://identifiers.org/clinvar/219256 ^@ NM_006086.3(TUBB3):c.785G>A (p.Arg262His) http://identifiers.org/clinvar/219257 ^@ NM_006086.3(TUBB3):c.1138C>T (p.Arg380Cys) http://identifiers.org/clinvar/219259 ^@ NM_004230.3(S1PR2):c.323G>C (p.Arg108Pro) http://identifiers.org/clinvar/219286 ^@ NM_016599.4(MYOZ2):c.247-3C>T http://identifiers.org/clinvar/219282 ^@ NM_000093.4(COL5A1):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/219281 ^@ NM_000093.4(COL5A1):c.431_432delCGinsAT (p.Thr144Asn) http://identifiers.org/clinvar/219283 ^@ NM_000093.4(COL5A1):c.1089C>G (p.Asn363Lys) http://identifiers.org/clinvar/219284 ^@ NM_000093.4(COL5A1):c.1163A>G (p.Asn388Ser) http://identifiers.org/clinvar/219285 ^@ NM_000093.4(COL5A1):c.1229G>A (p.Arg410Gln) http://identifiers.org/clinvar/219289 ^@ NM_016038.3(SBDS):c.98A>C (p.Lys33Thr) http://identifiers.org/clinvar/219295 ^@ NM_000251.2(MSH2):c.860_868delGACAGTTTG (p.Gly287_Phe289del) http://identifiers.org/clinvar/219294 ^@ NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) http://identifiers.org/clinvar/219291 ^@ NM_000249.3(MLH1):c.1178T>C (p.Leu393Pro) http://identifiers.org/clinvar/219290 ^@ NM_000249.3(MLH1):c.1676T>C (p.Leu559Pro) http://identifiers.org/clinvar/219292 ^@ NM_000249.3(MLH1):c.2263A>G (p.Arg755Gly) http://identifiers.org/clinvar/219293 ^@ NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup http://identifiers.org/clinvar/219296 ^@ NM_000044.4(AR):c.2105T>A (p.Leu702His) http://identifiers.org/clinvar/219297 ^@ NM_001012967.2(DDX60L):c.1633C>T (p.Arg545Trp) http://identifiers.org/clinvar/219298 ^@ NM_012397.3(SERPINB13):c.893C>T (p.Ala298Val) http://identifiers.org/clinvar/219299 ^@ NM_001197181.1(TUBB3):c.1072G>C (p.Ala358Pro) http://identifiers.org/clinvar/219300 ^@ NM_018715.3(RCC2):c.782G>C (p.Cys261Ser) http://identifiers.org/clinvar/219301 ^@ NM_001256865.1(DNAJC6):c.244C>T (p.Arg82Ter) http://identifiers.org/clinvar/219302 ^@ NM_002715.2(PPP2CA):c.922_924delTTC (p.Phe308del) http://identifiers.org/clinvar/219303 ^@ NM_004946.2(DOCK2):c.3352G>T (p.Glu1118Ter) http://identifiers.org/clinvar/219304 ^@ NM_002612.3(PDK4):c.59T>G (p.Val20Gly) http://identifiers.org/clinvar/219305 ^@ NM_004713.5(NEMF):c.2431_2432delCA (p.Gln811Glufs) http://identifiers.org/clinvar/219306 ^@ NM_014475.3(DHDH):c.611A>T (p.His204Leu) http://identifiers.org/clinvar/219307 ^@ NM_032127.3(FAM160A2):c.2584C>T (p.Arg862Cys) http://identifiers.org/clinvar/219308 ^@ NM_001290048.1(ATL3):c.1146G>T (p.Lys382Asn) http://identifiers.org/clinvar/219309 ^@ NM_001018072.1(BTBD11):c.148A>G (p.Ser50Gly) http://identifiers.org/clinvar/219310 ^@ NM_005225.2(E2F1):c.497G>A (p.Arg166His) http://identifiers.org/clinvar/219311 ^@ NM_001767.4(CD2):c.974G>C (p.Gly325Ala) http://identifiers.org/clinvar/219312 ^@ NM_001004434.2(SLC30A2):c.655G>A (p.Ala219Thr) http://identifiers.org/clinvar/219313 ^@ NM_152890.5(COL24A1):c.2341C>T (p.Gln781Ter) http://identifiers.org/clinvar/219314 ^@ NM_000696.3(ALDH9A1):c.265T>C (p.Trp89Arg) http://identifiers.org/clinvar/219315 ^@ NM_012161.3(FBXL5):c.1654delT (p.Cys552Valfs) http://identifiers.org/clinvar/219316 ^@ NM_001142564.1(CNGA1):c.1640G>A (p.Arg547His) http://identifiers.org/clinvar/219317 ^@ NM_017631.5(DDX60):c.1913A>G (p.Gln638Arg) http://identifiers.org/clinvar/219318 ^@ NM_001281471.2(PPIP5K2):c.2063-3_2063del http://identifiers.org/clinvar/219319 ^@ NM_001085377.1(MCC):c.800G>A (p.Arg267His) http://identifiers.org/clinvar/219320 ^@ NM_078488.2(VNN2):c.291C>A (p.Asp97Glu) http://identifiers.org/clinvar/219321 ^@ NM_001145514.1(SCRN1):c.238G>A (p.Asp80Asn) http://identifiers.org/clinvar/219322 ^@ NM_014916.3(LMTK2):c.649_650delTG (p.Cys217Terfs) http://identifiers.org/clinvar/219323 ^@ NM_001282426.1(PIK3CG):c.1414C>T (p.Arg472Cys) http://identifiers.org/clinvar/219324 ^@ NM_033427.2(CTTNBP2):c.3823G>A (p.Glu1275Lys) http://identifiers.org/clinvar/219325 ^@ NM_024940.7(DOCK5):c.5125G>T (p.Ala1709Ser) http://identifiers.org/clinvar/219326 ^@ NM_030780.4(SLC25A32):c.548A>G (p.Tyr183Cys) http://identifiers.org/clinvar/219327 ^@ NM_024045.1(DDX50):c.122C>T (p.Ser41Leu) http://identifiers.org/clinvar/219328 ^@ NM_017551.2(GRID1):c.884C>T (p.Thr295Met) http://identifiers.org/clinvar/219329 ^@ NM_003369.3(UVRAG):c.500A>G (p.Glu167Gly) http://identifiers.org/clinvar/219330 ^@ NM_016281.3(TAOK3):c.512T>C (p.Met171Thr) http://identifiers.org/clinvar/219331 ^@ NM_014708.4(KNTC1):c.6626C>T (p.Ser2209Leu) http://identifiers.org/clinvar/219332 ^@ NM_001002264.3(EPSTI1):c.350C>T (p.Thr117Ile) http://identifiers.org/clinvar/219333 ^@ NM_005845.4(ABCC4):c.2672G>T (p.Arg891Leu) http://identifiers.org/clinvar/219334 ^@ NM_014853.2(SGSM2):c.1696G>A (p.Val566Met) http://identifiers.org/clinvar/219335 ^@ NM_001346765.1(MYO18A):c.40G>A (p.Gly14Arg) http://identifiers.org/clinvar/219336 ^@ NM_001303533.1(RAPGEFL1):c.398A>G (p.Gln133Arg) http://identifiers.org/clinvar/219337 ^@ NM_001321381.1(RUNDC1):c.872G>C (p.Gly291Ala) http://identifiers.org/clinvar/219338 ^@ NM_001100621.2(C17orf80):c.973C>T (p.Arg325Trp) http://identifiers.org/clinvar/219339 ^@ NM_015208.4(ANKRD12):c.2593G>T (p.Asp865Tyr) http://identifiers.org/clinvar/219340 ^@ NM_004317.3(ASNA1):c.224C>G (p.Pro75Arg) http://identifiers.org/clinvar/219341 ^@ NM_001245.6(SIGLEC6):c.883G>T (p.Ala295Ser) http://identifiers.org/clinvar/219342 ^@ NM_001004416.2(UMODL1):c.3655G>A (p.Val1219Ile) http://identifiers.org/clinvar/219343 ^@ NM_007046.3(EMILIN1):c.197G>A (p.Arg66Gln) http://identifiers.org/clinvar/219344 ^@ NM_012120.2(CD2AP):c.560C>T (p.Pro187Leu) http://identifiers.org/clinvar/219345 ^@ NM_152635.2(OIT3):c.1598C>T (p.Thr533Met) http://identifiers.org/clinvar/219346 ^@ NM_001346516.1(LCOR):c.2564G>A (p.Arg855His) http://identifiers.org/clinvar/219347 ^@ NM_000921.4(PDE3A):c.2832G>C (p.Met944Ile) http://identifiers.org/clinvar/219348 ^@ NM_018071.4(ARHGEF40):c.1177C>G (p.Arg393Gly) http://identifiers.org/clinvar/219349 ^@ NM_001039840.2(CHIC1):c.331C>T (p.Pro111Ser) http://identifiers.org/clinvar/219350 ^@ NM_020731.4(AHRR):c.1472G>A (p.Arg491Gln) http://identifiers.org/clinvar/219351 ^@ NM_003075.4(SMARCC2):c.3577A>C (p.Thr1193Pro) http://identifiers.org/clinvar/219352 ^@ NM_002332.2(LRP1):c.2309G>A (p.Arg770Gln) http://identifiers.org/clinvar/219371 ^@ NM_001127701.1(SERPINA1):c.1208C>T (p.Thr403Ile) http://identifiers.org/clinvar/219360 ^@ NM_001127701.1(SERPINA1):c.1177C>A (p.Pro393Thr) http://identifiers.org/clinvar/219353 ^@ NM_001127701.1(SERPINA1):c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs) http://identifiers.org/clinvar/219357 ^@ NM_001127701.1(SERPINA1):c.1094A>T (p.Asp365Val) http://identifiers.org/clinvar/219370 ^@ NM_001127701.1(SERPINA1):c.1093G>T (p.Asp365Tyr) http://identifiers.org/clinvar/219369 ^@ NM_001127701.1(SERPINA1):c.1064A>G (p.Lys355Arg) http://identifiers.org/clinvar/219368 ^@ NM_001127701.1(SERPINA1):c.879C>G (p.His293Gln) http://identifiers.org/clinvar/219355 ^@ NM_001127701.1(SERPINA1):c.848A>T (p.Lys283Ile) http://identifiers.org/clinvar/219367 ^@ NM_001127701.1(SERPINA1):c.737A>C (p.Lys246Thr) http://identifiers.org/clinvar/219366 ^@ NM_001127701.1(SERPINA1):c.735G>A (p.Met245Ile) http://identifiers.org/clinvar/219372 ^@ NM_001127701.1(SERPINA1):c.707A>G (p.Gln236Arg) http://identifiers.org/clinvar/219365 ^@ NM_001127701.1(SERPINA1):c.631T>C (p.Tyr211His) http://identifiers.org/clinvar/219364 ^@ NM_000295.4(SERPINA1):c.538C>T (p.Gln180Ter) http://identifiers.org/clinvar/219359 ^@ NM_001127701.1(SERPINA1):c.236T>A (p.Val79Glu) http://identifiers.org/clinvar/219363 ^@ NM_001127701.1(SERPINA1):c.199C>A (p.His67Asn) http://identifiers.org/clinvar/219358 ^@ NM_001127701.1(SERPINA1):c.188G>T (p.Arg63Leu) http://identifiers.org/clinvar/219356 ^@ NM_001127701.1(SERPINA1):c.180C>G (p.Ser60Arg) http://identifiers.org/clinvar/219362 ^@ NM_001127701.1(SERPINA1):c.102G>T (p.Lys34Asn) http://identifiers.org/clinvar/219361 ^@ NM_001127701.1(SERPINA1):c.89A>T (p.Asp30Val) http://identifiers.org/clinvar/219373 ^@ NM_018668.4(VPS33B):c.1130G>C (p.Arg377Pro) http://identifiers.org/clinvar/219383 ^@ NM_017617.4(NOTCH1):c.6049_6050delTC (p.Ser2017Thrfs) http://identifiers.org/clinvar/219382 ^@ NM_017617.4(NOTCH1):c.5218G>T (p.Ala1740Ser) http://identifiers.org/clinvar/219381 ^@ NM_017617.4(NOTCH1):c.4739dupT (p.Met1580Ilefs) http://identifiers.org/clinvar/219380 ^@ NM_017617.4(NOTCH1):c.4663G>T (p.Glu1555Ter) http://identifiers.org/clinvar/219379 ^@ NM_017617.4(NOTCH1):c.4120T>C (p.Cys1374Arg) http://identifiers.org/clinvar/219378 ^@ NM_017617.4(NOTCH1):c.1649dupA (p.Tyr550Terfs) http://identifiers.org/clinvar/219377 ^@ NM_017617.4(NOTCH1):c.1367G>A (p.Cys456Tyr) http://identifiers.org/clinvar/219376 ^@ NM_017617.4(NOTCH1):c.1345T>C (p.Cys449Arg) http://identifiers.org/clinvar/219375 ^@ NM_017617.4(NOTCH1):c.1343G>A (p.Arg448Gln) http://identifiers.org/clinvar/219374 ^@ NM_017617.4(NOTCH1):c.1220C>G (p.Pro407Arg) http://identifiers.org/clinvar/220468 ^@ NM_015074.3(KIF1B):c.608+8dupA http://identifiers.org/clinvar/219797 ^@ NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) http://identifiers.org/clinvar/220407 ^@ NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) http://identifiers.org/clinvar/220727 ^@ NM_006594.4(AP4B1):c.1723A>G (p.Ile575Val) http://identifiers.org/clinvar/220333 ^@ NM_014874.3(MFN2):c.720C>A (p.Phe240Leu) http://identifiers.org/clinvar/220420 ^@ NM_014874.3(MFN2):c.723C>T (p.Phe241=) http://identifiers.org/clinvar/221059 ^@ NM_014874.3(MFN2):c.1268C>T (p.Thr423Met) http://identifiers.org/clinvar/219952 ^@ NM_014874.3(MFN2):c.1920C>G (p.Leu640=) http://identifiers.org/clinvar/219585 ^@ NM_213653.3(HFE2):c.204_206dupAGG (p.Gly69_Arg70insGly) http://identifiers.org/clinvar/220423 ^@ NM_213653.3(HFE2):c.98-6C>G http://identifiers.org/clinvar/220478 ^@ NM_213653.3(HFE2):c.9G>C (p.Glu3Asp) http://identifiers.org/clinvar/221065 ^@ NM_000530.7(MPZ):c.106A>T (p.Arg36Trp) http://identifiers.org/clinvar/220994 ^@ NM_003001.3(SDHC):c.6T>C (p.Ala2=) http://identifiers.org/clinvar/220915 ^@ NM_003000.2(SDHB):c.65G>C (p.Cys22Ser) http://identifiers.org/clinvar/220768 ^@ NM_000488.3(SERPINC1):c.995C>T (p.Thr332Ile) http://identifiers.org/clinvar/219483 ^@ NM_000488.3(SERPINC1):c.678C>T (p.Thr226=) http://identifiers.org/clinvar/221109 ^@ NM_024529.4(CDC73):c.*12C>A http://identifiers.org/clinvar/220793 ^@ NM_003036.3(SKI):c.1258G>A (p.Ala420Thr) http://identifiers.org/clinvar/219427 ^@ NM_001103.3(ACTN2):c.546T>C (p.Asp182=) http://identifiers.org/clinvar/220973 ^@ NM_001035.2(RYR2):c.11197G>A (p.Asp3733Asn) http://identifiers.org/clinvar/220649 ^@ NM_001035.2(RYR2):c.14733G>A (p.Gln4911=) http://identifiers.org/clinvar/220175 ^@ NM_003680.3(YARS):c.1571G>C (p.Gly524Ala) http://identifiers.org/clinvar/220895 ^@ NM_003680.3(YARS):c.1179C>T (p.Asp393=) http://identifiers.org/clinvar/221025 ^@ NM_022114.3(PRDM16):c.1071C>T (p.Arg357=) http://identifiers.org/clinvar/220733 ^@ NM_022114.3(PRDM16):c.2100C>T (p.Ala700=) http://identifiers.org/clinvar/219953 ^@ NM_001128425.1(MUTYH):c.1477G>T (p.Val493Phe) http://identifiers.org/clinvar/219673 ^@ NM_001128425.1(MUTYH):c.1411C>A (p.Pro471Thr) http://identifiers.org/clinvar/220923 ^@ NM_001128425.1(MUTYH):c.1258C>G (p.Leu420Val) http://identifiers.org/clinvar/220836 ^@ NM_001128425.1(MUTYH):c.1252A>G (p.Lys418Glu) http://identifiers.org/clinvar/219604 ^@ NM_001128425.1(MUTYH):c.1182C>T (p.Asn394=) http://identifiers.org/clinvar/220137 ^@ NM_001128425.1(MUTYH):c.997+3G>A http://identifiers.org/clinvar/219485 ^@ NM_001128425.1(MUTYH):c.737T>C (p.Val246Ala) http://identifiers.org/clinvar/219768 ^@ NM_001128425.1(MUTYH):c.513T>A (p.Asn171Lys) http://identifiers.org/clinvar/220270 ^@ NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val) http://identifiers.org/clinvar/219392 ^@ NM_001128425.1(MUTYH):c.388+6T>C http://identifiers.org/clinvar/219876 ^@ NM_001128425.1(MUTYH):c.300G>A (p.Leu100=) http://identifiers.org/clinvar/219610 ^@ NM_001128425.1(MUTYH):c.161G>A (p.Cys54Tyr) http://identifiers.org/clinvar/220304 ^@ NM_015102.4(NPHP4):c.3479C>T (p.Pro1160Leu) http://identifiers.org/clinvar/220869 ^@ NM_015102.4(NPHP4):c.3052G>A (p.Val1018Met) http://identifiers.org/clinvar/219984 ^@ NM_015102.4(NPHP4):c.1542G>A (p.Pro514=) http://identifiers.org/clinvar/220231 ^@ NM_015102.4(NPHP4):c.136-4delC http://identifiers.org/clinvar/219701 ^@ NM_000179.2(MSH6):c.458-?_3172+?del http://identifiers.org/clinvar/219983 ^@ NM_000272.3(NPHP1):c.2118G>A (p.Leu706=) http://identifiers.org/clinvar/219771 ^@ NM_000312.3(PROC):c.1299C>T (p.Gly433=) http://identifiers.org/clinvar/219735 ^@ NM_024753.4(TTC21B):c.3932G>A (p.Arg1311His) http://identifiers.org/clinvar/220095 ^@ NM_024753.4(TTC21B):c.2322+3A>G http://identifiers.org/clinvar/220200 ^@ NM_001165963.1(SCN1A):c.1852C>T (p.Arg618Cys) http://identifiers.org/clinvar/220650 ^@ NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) http://identifiers.org/clinvar/220679 ^@ NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) http://identifiers.org/clinvar/220854 ^@ NM_001267550.2(TTN):c.97204_97205delCCinsAG (p.Pro32402Arg) http://identifiers.org/clinvar/220984 ^@ NM_001267550.2(TTN):c.93585T>C (p.Ser31195=) http://identifiers.org/clinvar/220853 ^@ NM_001267550.2(TTN):c.77035A>C (p.Asn25679His) http://identifiers.org/clinvar/220680 ^@ NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) http://identifiers.org/clinvar/220885 ^@ NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly) http://identifiers.org/clinvar/220974 ^@ NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu) http://identifiers.org/clinvar/220852 ^@ NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala) http://identifiers.org/clinvar/220772 ^@ NM_001267550.2(TTN):c.37202-4T>C http://identifiers.org/clinvar/220962 ^@ NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser) http://identifiers.org/clinvar/220982 ^@ NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) http://identifiers.org/clinvar/221027 ^@ NM_001267550.2(TTN):c.36318A>G (p.Lys12106=) http://identifiers.org/clinvar/220702 ^@ NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala) http://identifiers.org/clinvar/220983 ^@ NM_001267550.2(TTN):c.538A>C (p.Asn180His) http://identifiers.org/clinvar/219557 ^@ NM_002156.4(HSPD1):c.697A>C (p.Lys233Gln) http://identifiers.org/clinvar/219636 ^@ NM_002156.4(HSPD1):c.603A>G (p.Val201=) http://identifiers.org/clinvar/220656 ^@ NM_020919.3(ALS2):c.3517G>A (p.Glu1173Lys) http://identifiers.org/clinvar/219805 ^@ NM_000465.3(BARD1):c.2145G>A (p.Gln715=) http://identifiers.org/clinvar/220993 ^@ NM_000465.3(BARD1):c.2117A>G (p.Lys706Arg) http://identifiers.org/clinvar/220100 ^@ NM_000465.3(BARD1):c.2057A>G (p.His686Arg) http://identifiers.org/clinvar/219763 ^@ NM_000465.3(BARD1):c.1904-2A>T http://identifiers.org/clinvar/220709 ^@ NM_000465.3(BARD1):c.1904-6T>C http://identifiers.org/clinvar/220350 ^@ NM_000465.3(BARD1):c.1811-7A>G http://identifiers.org/clinvar/220476 ^@ NM_000465.3(BARD1):c.1757G>T (p.Ser586Ile) http://identifiers.org/clinvar/220357 ^@ NM_000465.3(BARD1):c.1751_1756dupTGCTCA (p.Leu585_Ser586insMetLeu) http://identifiers.org/clinvar/219970 ^@ NM_000465.3(BARD1):c.1745A>G (p.Gln582Arg) http://identifiers.org/clinvar/220065 ^@ NM_000465.3(BARD1):c.1678A>G (p.Met560Val) http://identifiers.org/clinvar/220141 ^@ NM_000465.3(BARD1):c.1652C>T (p.Ser551Leu) http://identifiers.org/clinvar/219779 ^@ NM_000465.3(BARD1):c.1601C>T (p.Thr534Ile) http://identifiers.org/clinvar/221049 ^@ NM_000465.3(BARD1):c.1533G>A (p.Lys511=) http://identifiers.org/clinvar/219764 ^@ NM_000465.3(BARD1):c.1513G>C (p.Gly505Arg) http://identifiers.org/clinvar/220666 ^@ NM_000465.3(BARD1):c.1498G>A (p.Asp500Asn) http://identifiers.org/clinvar/220805 ^@ NM_000465.3(BARD1):c.1319A>G (p.Asp440Gly) http://identifiers.org/clinvar/219417 ^@ NM_000465.3(BARD1):c.1240A>T (p.Met414Leu) http://identifiers.org/clinvar/219888 ^@ NM_000465.3(BARD1):c.1136A>C (p.Lys379Thr) http://identifiers.org/clinvar/219861 ^@ NM_000465.3(BARD1):c.1077G>T (p.Leu359Phe) http://identifiers.org/clinvar/220253 ^@ NM_000465.3(BARD1):c.1014C>G (p.Thr338=) http://identifiers.org/clinvar/220446 ^@ NM_000465.3(BARD1):c.907G>C (p.Val303Leu) http://identifiers.org/clinvar/219583 ^@ NM_000465.3(BARD1):c.684A>G (p.Glu228=) http://identifiers.org/clinvar/220032 ^@ NM_000465.3(BARD1):c.643A>T (p.Asn215Tyr) http://identifiers.org/clinvar/219726 ^@ NM_000465.3(BARD1):c.627_628delAA (p.Lys209Asnfs) http://identifiers.org/clinvar/220256 ^@ NM_000465.3(BARD1):c.609A>G (p.Gly203=) http://identifiers.org/clinvar/220201 ^@ NM_000465.3(BARD1):c.600A>G (p.Ala200=) http://identifiers.org/clinvar/220889 ^@ NM_000465.3(BARD1):c.566C>T (p.Ala189Val) http://identifiers.org/clinvar/219631 ^@ NM_000465.3(BARD1):c.365-7C>T http://identifiers.org/clinvar/221102 ^@ NM_000465.3(BARD1):c.335G>C (p.Arg112Pro) http://identifiers.org/clinvar/219469 ^@ NM_000465.3(BARD1):c.293A>G (p.Asn98Ser) http://identifiers.org/clinvar/220741 ^@ NM_000465.3(BARD1):c.274A>T (p.Ile92Leu) http://identifiers.org/clinvar/220431 ^@ NM_000465.3(BARD1):c.159-7C>T http://identifiers.org/clinvar/219973 ^@ NM_000465.3(BARD1):c.127C>G (p.Arg43Gly) http://identifiers.org/clinvar/220225 ^@ NM_000465.3(BARD1):c.127C>A (p.Arg43Ser) http://identifiers.org/clinvar/220710 ^@ NM_000465.3(BARD1):c.107A>G (p.His36Arg) http://identifiers.org/clinvar/219681 ^@ NM_000465.3(BARD1):c.61C>G (p.Arg21Gly) http://identifiers.org/clinvar/220204 ^@ NM_000465.3(BARD1):c.51G>C (p.Gly17=) http://identifiers.org/clinvar/219745 ^@ NM_000465.3(BARD1):c.17A>G (p.Gln6Arg) http://identifiers.org/clinvar/220021 ^@ NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) http://identifiers.org/clinvar/219840 ^@ NM_014946.3(SPAST):c.879G>A (p.Pro293=) http://identifiers.org/clinvar/219966 ^@ NM_014946.3(SPAST):c.1115G>T (p.Arg372Ile) http://identifiers.org/clinvar/219826 ^@ NM_014946.3(SPAST):c.1437_1438delAG (p.Arg479Serfs) http://identifiers.org/clinvar/219575 ^@ NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) http://identifiers.org/clinvar/219608 ^@ NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) http://identifiers.org/clinvar/219445 ^@ NM_002354.2(EPCAM):c.38_58del21 (p.Thr17_Ala23del) http://identifiers.org/clinvar/220438 ^@ NM_002354.2(EPCAM):c.63C>G (p.Ala21=) http://identifiers.org/clinvar/220544 ^@ NM_002354.2(EPCAM):c.106G>A (p.Val36Ile) http://identifiers.org/clinvar/220236 ^@ NM_002354.2(EPCAM):c.125A>G (p.Asn42Ser) http://identifiers.org/clinvar/221097 ^@ NM_002354.2(EPCAM):c.194A>C (p.Lys65Thr) http://identifiers.org/clinvar/219617 ^@ NM_002354.2(EPCAM):c.288T>C (p.Asp96=) http://identifiers.org/clinvar/220795 ^@ NM_002354.2(EPCAM):c.297C>T (p.Cys99=) http://identifiers.org/clinvar/220748 ^@ NM_002354.2(EPCAM):c.299A>T (p.Asp100Val) http://identifiers.org/clinvar/220834 ^@ NM_002354.2(EPCAM):c.360C>T (p.Asn120=) http://identifiers.org/clinvar/221039 ^@ NM_002354.2(EPCAM):c.450C>G (p.His150Gln) http://identifiers.org/clinvar/220128 ^@ NM_002354.2(EPCAM):c.491+1G>T http://identifiers.org/clinvar/219824 ^@ NM_002354.2(EPCAM):c.533C>T (p.Pro178Leu) http://identifiers.org/clinvar/220762 ^@ NM_002354.2(EPCAM):c.555+7T>A http://identifiers.org/clinvar/219598 ^@ NM_002354.2(EPCAM):c.612G>C (p.Gln204His) http://identifiers.org/clinvar/220297 ^@ NM_002354.2(EPCAM):c.643T>A (p.Tyr215Asn) http://identifiers.org/clinvar/220291 ^@ NM_002354.2(EPCAM):c.690A>C (p.Lys230Asn) http://identifiers.org/clinvar/220206 ^@ NM_002354.2(EPCAM):c.729T>C (p.Asp243=) http://identifiers.org/clinvar/219397 ^@ NM_002354.2(EPCAM):c.739A>C (p.Thr247Pro) http://identifiers.org/clinvar/219439 ^@ NM_002354.2(EPCAM):c.766G>T (p.Ala256Ser) http://identifiers.org/clinvar/219866 ^@ NM_002354.2(EPCAM):c.866C>T (p.Ser289Phe) http://identifiers.org/clinvar/219971 ^@ NM_002354.2(EPCAM):c.904-6T>C http://identifiers.org/clinvar/220448 ^@ NM_000251.2(MSH2):c.164G>A (p.Arg55Gln) http://identifiers.org/clinvar/221155 ^@ NM_000251.2(MSH2):c.366+88G>A http://identifiers.org/clinvar/221178 ^@ NM_000251.2(MSH2):c.413A>G (p.Asn138Ser) http://identifiers.org/clinvar/220510 ^@ NM_000251.2(MSH2):c.421_422delAT (p.Met141Valfs) http://identifiers.org/clinvar/220154 ^@ NM_000251.2(MSH2):c.507A>G (p.Ile169Met) http://identifiers.org/clinvar/220157 ^@ NM_000251.2(MSH2):c.508C>G (p.Gln170Glu) http://identifiers.org/clinvar/219696 ^@ NM_000251.2(MSH2):c.556A>C (p.Asn186His) http://identifiers.org/clinvar/220102 ^@ NM_000251.2(MSH2):c.576C>T (p.Ile192=) http://identifiers.org/clinvar/220812 ^@ NM_000251.2(MSH2):c.589A>G (p.Lys197Glu) http://identifiers.org/clinvar/220000 ^@ NM_000251.2(MSH2):c.606C>T (p.Pro202=) http://identifiers.org/clinvar/220492 ^@ NM_000251.2(MSH2):c.641G>T (p.Arg214Ile) http://identifiers.org/clinvar/220712 ^@ NM_000251.2(MSH2):c.642A>G (p.Arg214=) http://identifiers.org/clinvar/220153 ^@ NM_000251.2(MSH2):c.646-3T>C http://identifiers.org/clinvar/219839 ^@ NM_000251.2(MSH2):c.735G>C (p.Leu245Phe) http://identifiers.org/clinvar/219627 ^@ NM_000251.2(MSH2):c.748G>T (p.Gly250Ter) http://identifiers.org/clinvar/220025 ^@ NM_000251.2(MSH2):c.812C>G (p.Ser271Cys) http://identifiers.org/clinvar/219810 ^@ NM_000251.2(MSH2):c.819_821delAATinsTG (p.Ile274Alafs) http://identifiers.org/clinvar/219909 ^@ NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) http://identifiers.org/clinvar/219619 ^@ NM_000251.2(MSH2):c.934C>G (p.Leu312Val) http://identifiers.org/clinvar/220628 ^@ NM_000251.2(MSH2):c.1013G>C (p.Gly338Ala) http://identifiers.org/clinvar/220006 ^@ NM_000251.2(MSH2):c.1023delT (p.Val342Leufs) http://identifiers.org/clinvar/220486 ^@ NM_000251.2(MSH2):c.1083T>C (p.Asn361=) http://identifiers.org/clinvar/219790 ^@ NM_000251.2(MSH2):c.1118G>A (p.Arg373Lys) http://identifiers.org/clinvar/220533 ^@ NM_000251.2(MSH2):c.1124C>T (p.Thr375Ile) http://identifiers.org/clinvar/220849 ^@ NM_000251.2(MSH2):c.1172C>T (p.Ala391Val) http://identifiers.org/clinvar/219599 ^@ NM_000251.2(MSH2):c.1276+7A>G http://identifiers.org/clinvar/219695 ^@ NM_000251.2(MSH2):c.1277-7C>A http://identifiers.org/clinvar/221162 ^@ NM_000251.2(MSH2):c.1511-41G>C http://identifiers.org/clinvar/220452 ^@ NM_000251.2(MSH2):c.1511-10_1511-7delGATT http://identifiers.org/clinvar/220417 ^@ NM_000251.2(MSH2):c.1563T>A (p.Tyr521Ter) http://identifiers.org/clinvar/219420 ^@ NM_000251.2(MSH2):c.1622C>T (p.Thr541Ile) http://identifiers.org/clinvar/220243 ^@ NM_000251.2(MSH2):c.1662-12_1677del http://identifiers.org/clinvar/219760 ^@ NM_000251.2(MSH2):c.1746C>A (p.Val582=) http://identifiers.org/clinvar/219780 ^@ NM_000251.2(MSH2):c.1789G>A (p.Asp597Asn) http://identifiers.org/clinvar/219605 ^@ NM_000251.2(MSH2):c.1802A>G (p.Gln601Arg) http://identifiers.org/clinvar/219668 ^@ NM_000251.2(MSH2):c.1804C>G (p.Leu602Val) http://identifiers.org/clinvar/220582 ^@ NM_000251.2(MSH2):c.1817T>C (p.Val606Ala) http://identifiers.org/clinvar/219446 ^@ NM_000251.2(MSH2):c.1898T>C (p.Ile633Thr) http://identifiers.org/clinvar/219499 ^@ NM_000251.2(MSH2):c.1963_1964delGT (p.Val655Ilefs) http://identifiers.org/clinvar/220151 ^@ NM_000251.2(MSH2):c.2096C>T (p.Ser699Leu) http://identifiers.org/clinvar/220779 ^@ NM_000251.2(MSH2):c.2150G>A (p.Ser717Asn) http://identifiers.org/clinvar/220074 ^@ NM_000251.2(MSH2):c.2190G>A (p.Leu730=) http://identifiers.org/clinvar/219939 ^@ NM_000251.2(MSH2):c.2248T>C (p.Leu750=) http://identifiers.org/clinvar/220156 ^@ NM_000251.2(MSH2):c.2309T>C (p.Ile770Thr) http://identifiers.org/clinvar/219534 ^@ NM_000251.2(MSH2):c.2417C>T (p.Thr806Ile) http://identifiers.org/clinvar/220549 ^@ NM_000251.2(MSH2):c.2458+9T>C http://identifiers.org/clinvar/220488 ^@ NM_000251.2(MSH2):c.2525A>T (p.Glu842Val) http://identifiers.org/clinvar/220024 ^@ NM_000251.2(MSH2):c.2542G>T (p.Ala848Ser) http://identifiers.org/clinvar/219489 ^@ NM_000251.2(MSH2):c.2782T>C (p.Ser928Pro) http://identifiers.org/clinvar/219577 ^@ NM_000179.2(MSH6):c.136G>A (p.Gly46Arg) http://identifiers.org/clinvar/220796 ^@ NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) http://identifiers.org/clinvar/220526 ^@ NM_000179.2(MSH6):c.204G>A (p.Lys68=) http://identifiers.org/clinvar/220220 ^@ NM_000179.2(MSH6):c.233G>A (p.Arg78Lys) http://identifiers.org/clinvar/219856 ^@ NM_000179.2(MSH6):c.240A>G (p.Val80=) http://identifiers.org/clinvar/219868 ^@ NM_000179.2(MSH6):c.253C>T (p.Pro85Ser) http://identifiers.org/clinvar/220279 ^@ NM_000179.2(MSH6):c.267C>G (p.Asp89Glu) http://identifiers.org/clinvar/220513 ^@ NM_000179.2(MSH6):c.272C>T (p.Ser91Leu) http://identifiers.org/clinvar/220150 ^@ NM_000179.2(MSH6):c.334A>G (p.Asn112Asp) http://identifiers.org/clinvar/219881 ^@ NM_000179.2(MSH6):c.361C>T (p.Arg121Cys) http://identifiers.org/clinvar/219706 ^@ NM_000179.2(MSH6):c.396G>C (p.Gln132His) http://identifiers.org/clinvar/220192 ^@ NM_000179.2(MSH6):c.647C>T (p.Thr216Ile) http://identifiers.org/clinvar/221144 ^@ NM_000179.2(MSH6):c.659A>G (p.Glu220Gly) http://identifiers.org/clinvar/220143 ^@ NM_000179.2(MSH6):c.733A>T (p.Ile245Leu) http://identifiers.org/clinvar/220584 ^@ NM_000179.2(MSH6):c.938A>G (p.Lys313Arg) http://identifiers.org/clinvar/220096 ^@ NM_000179.2(MSH6):c.1034A>G (p.Asn345Ser) http://identifiers.org/clinvar/220489 ^@ NM_000179.2(MSH6):c.1141G>A (p.Glu381Lys) http://identifiers.org/clinvar/219569 ^@ NM_000179.2(MSH6):c.1162C>G (p.His388Asp) http://identifiers.org/clinvar/220694 ^@ NM_000179.2(MSH6):c.1209C>G (p.Leu403=) http://identifiers.org/clinvar/219541 ^@ NM_000179.2(MSH6):c.1359A>G (p.Lys453=) http://identifiers.org/clinvar/220241 ^@ NM_000179.2(MSH6):c.1387G>T (p.Glu463Ter) http://identifiers.org/clinvar/221082 ^@ NM_000179.2(MSH6):c.1415C>G (p.Ser472Cys) http://identifiers.org/clinvar/220463 ^@ NM_000179.2(MSH6):c.1419G>T (p.Leu473=) http://identifiers.org/clinvar/220545 ^@ NM_000179.2(MSH6):c.1529G>A (p.Arg510Lys) http://identifiers.org/clinvar/220142 ^@ NM_000179.2(MSH6):c.1591C>A (p.Pro531Thr) http://identifiers.org/clinvar/219570 ^@ NM_000179.2(MSH6):c.1674G>A (p.Val558=) http://identifiers.org/clinvar/219551 ^@ NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) http://identifiers.org/clinvar/220633 ^@ NM_000179.2(MSH6):c.1708A>G (p.Ile570Val) http://identifiers.org/clinvar/219432 ^@ NM_000179.2(MSH6):c.2018C>T (p.Pro673Leu) http://identifiers.org/clinvar/219795 ^@ NM_000179.2(MSH6):c.2136delG (p.Asp713Ilefs) http://identifiers.org/clinvar/220238 ^@ NM_000179.2(MSH6):c.2156C>T (p.Thr719Ile) http://identifiers.org/clinvar/220247 ^@ NM_000179.2(MSH6):c.2241G>A (p.Leu747=) http://identifiers.org/clinvar/219913 ^@ NM_000179.2(MSH6):c.2268A>C (p.Gly756=) http://identifiers.org/clinvar/220570 ^@ NM_000179.2(MSH6):c.2308_2312delGGTAAinsT (p.Gly770Cysfs) http://identifiers.org/clinvar/220571 ^@ NM_000179.2(MSH6):c.2312A>T (p.Lys771Met) http://identifiers.org/clinvar/219956 ^@ NM_000179.2(MSH6):c.2320C>G (p.Leu774Val) http://identifiers.org/clinvar/220194 ^@ NM_000179.2(MSH6):c.2387A>G (p.Glu796Gly) http://identifiers.org/clinvar/220239 ^@ NM_000179.2(MSH6):c.2595C>G (p.Phe865Leu) http://identifiers.org/clinvar/220147 ^@ NM_000179.2(MSH6):c.2958C>T (p.Thr986=) http://identifiers.org/clinvar/220040 ^@ NM_000179.2(MSH6):c.2964C>A (p.Arg988=) http://identifiers.org/clinvar/219625 ^@ NM_000179.2(MSH6):c.2997C>G (p.Thr999=) http://identifiers.org/clinvar/220098 ^@ NM_000179.2(MSH6):c.3012A>G (p.Lys1004=) http://identifiers.org/clinvar/219808 ^@ NM_000179.2(MSH6):c.3203G>T (p.Arg1068Leu) http://identifiers.org/clinvar/220713 ^@ NM_000179.2(MSH6):c.3272T>G (p.Leu1091Arg) http://identifiers.org/clinvar/221123 ^@ NM_000179.2(MSH6):c.3312T>A (p.Phe1104Leu) http://identifiers.org/clinvar/219425 ^@ NM_000179.2(MSH6):c.3324T>C (p.Phe1108=) http://identifiers.org/clinvar/220784 ^@ NM_000179.2(MSH6):c.3334G>A (p.Asp1112Asn) http://identifiers.org/clinvar/220901 ^@ NM_000179.2(MSH6):c.3354G>A (p.Glu1118=) http://identifiers.org/clinvar/220619 ^@ NM_000179.2(MSH6):c.3431T>G (p.Met1144Arg) http://identifiers.org/clinvar/219708 ^@ NM_000179.2(MSH6):c.3515G>C (p.Arg1172Thr) http://identifiers.org/clinvar/220223 ^@ NM_000179.2(MSH6):c.3526A>T (p.Arg1176Ter) http://identifiers.org/clinvar/220315 ^@ NM_000179.2(MSH6):c.3557-2delA http://identifiers.org/clinvar/220745 ^@ NM_000179.2(MSH6):c.3598A>G (p.Ile1200Val) http://identifiers.org/clinvar/221107 ^@ NM_000179.2(MSH6):c.3634G>A (p.Val1212Met) http://identifiers.org/clinvar/221069 ^@ NM_000179.2(MSH6):c.3801+8C>A http://identifiers.org/clinvar/219656 ^@ NM_000179.2(MSH6):c.3802-8T>G http://identifiers.org/clinvar/220159 ^@ NM_000179.2(MSH6):c.3836G>A (p.Ser1279Asn) http://identifiers.org/clinvar/220107 ^@ NM_000179.2(MSH6):c.3843G>T (p.Glu1281Asp) http://identifiers.org/clinvar/219571 ^@ NM_000179.2(MSH6):c.3909A>G (p.Ala1303=) http://identifiers.org/clinvar/219946 ^@ NM_000179.2(MSH6):c.3969_4001+52dup http://identifiers.org/clinvar/220943 ^@ NM_000179.2(MSH6):c.3980A>G (p.Asn1327Ser) http://identifiers.org/clinvar/219465 ^@ NM_000179.2(MSH6):c.4002-9_4002-7delAAT http://identifiers.org/clinvar/219921 ^@ NM_000179.2(MSH6):c.4002-8A>C http://identifiers.org/clinvar/220947 ^@ NM_000179.2(MSH6):c.4034_4042delTAGATGCTG (p.Val1345_Ala1347del) http://identifiers.org/clinvar/221091 ^@ NM_018062.3(FANCL):c.1077T>C (p.Cys359=) http://identifiers.org/clinvar/220759 ^@ NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) http://identifiers.org/clinvar/219754 ^@ NM_018062.3(FANCL):c.706A>G (p.Ile236Val) http://identifiers.org/clinvar/219635 ^@ NM_018062.3(FANCL):c.693T>G (p.Gly231=) http://identifiers.org/clinvar/221092 ^@ NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) http://identifiers.org/clinvar/220870 ^@ NM_015910.5(WDPCP):c.2063A>G (p.Asn688Ser) http://identifiers.org/clinvar/220911 ^@ NM_015910.5(WDPCP):c.176T>A (p.Ile59Asn) http://identifiers.org/clinvar/221075 ^@ NM_015120.4(ALMS1):c.69_77delGGAGGAGGA (p.Glu27_Glu29del) http://identifiers.org/clinvar/220621 ^@ NM_015120.4(ALMS1):c.66_77dupGGAGGAGGAGGA (p.Glu29_Ala30insGluGluGluGlu) http://identifiers.org/clinvar/221018 ^@ NM_015120.4(ALMS1):c.674C>A (p.Pro225His) http://identifiers.org/clinvar/220730 ^@ NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) http://identifiers.org/clinvar/220880 ^@ NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) http://identifiers.org/clinvar/221014 ^@ NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) http://identifiers.org/clinvar/221186 ^@ NM_015120.4(ALMS1):c.1577_1579dupCTC (p.Pro526_Leu527insPro) http://identifiers.org/clinvar/220882 ^@ NM_015120.4(ALMS1):c.2322G>A (p.Leu774=) http://identifiers.org/clinvar/220883 ^@ NM_015120.4(ALMS1):c.2733C>T (p.His911=) http://identifiers.org/clinvar/221015 ^@ NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) http://identifiers.org/clinvar/221016 ^@ NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) http://identifiers.org/clinvar/220971 ^@ NM_015120.4(ALMS1):c.5362A>G (p.Asn1788Asp) http://identifiers.org/clinvar/221017 ^@ NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) http://identifiers.org/clinvar/221010 ^@ NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) http://identifiers.org/clinvar/221012 ^@ NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) http://identifiers.org/clinvar/221013 ^@ NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) http://identifiers.org/clinvar/221028 ^@ NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) http://identifiers.org/clinvar/220878 ^@ NM_015120.4(ALMS1):c.11269G>A (p.Gly3757Ser) http://identifiers.org/clinvar/220881 ^@ NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) http://identifiers.org/clinvar/219415 ^@ NM_022912.2(REEP1):c.486C>T (p.Asp162=) http://identifiers.org/clinvar/220728 ^@ NM_022912.2(REEP1):c.424G>C (p.Gly142Arg) http://identifiers.org/clinvar/220099 ^@ NM_000551.3(VHL):c.47A>C (p.Glu16Ala) http://identifiers.org/clinvar/220918 ^@ NM_000551.3(VHL):c.114C>T (p.Ser38=) http://identifiers.org/clinvar/220750 ^@ NM_000551.3(VHL):c.129C>T (p.Ser43=) http://identifiers.org/clinvar/220989 ^@ NM_000551.3(VHL):c.168C>G (p.Ala56=) http://identifiers.org/clinvar/220487 ^@ NM_000551.3(VHL):c.258delC (p.Val87Tyrfs) http://identifiers.org/clinvar/219823 ^@ NM_000551.3(VHL):c.307C>G (p.Pro103Ala) http://identifiers.org/clinvar/219995 ^@ NM_000551.3(VHL):c.321C>T (p.Arg107=) http://identifiers.org/clinvar/220414 ^@ NM_000551.3(VHL):c.337C>T (p.Arg113Ter) http://identifiers.org/clinvar/220751 ^@ NM_000551.3(VHL):c.345C>T (p.His115=) http://identifiers.org/clinvar/219470 ^@ NM_000551.3(VHL):c.387G>T (p.Leu129=) http://identifiers.org/clinvar/219929 ^@ NM_000551.3(VHL):c.434A>T (p.Gln145Leu) http://identifiers.org/clinvar/220655 ^@ NM_000551.3(VHL):c.544A>G (p.Arg182Gly) http://identifiers.org/clinvar/219886 ^@ NM_000551.3(VHL):c.549G>T (p.Ser183=) http://identifiers.org/clinvar/219472 ^@ NM_000551.3(VHL):c.555C>T (p.Tyr185=) http://identifiers.org/clinvar/220627 ^@ NM_000551.3(VHL):c.628C>T (p.Arg210Trp) http://identifiers.org/clinvar/220867 ^@ NM_001023570.3(IQCB1):c.1441G>A (p.Glu481Lys) http://identifiers.org/clinvar/219524 ^@ NM_001023570.3(IQCB1):c.1303C>T (p.Arg435Cys) http://identifiers.org/clinvar/219982 ^@ NM_001023570.3(IQCB1):c.424T>C (p.Phe142Leu) http://identifiers.org/clinvar/220791 ^@ NM_053025.3(MYLK):c.3438C>T (p.Leu1146=) http://identifiers.org/clinvar/220800 ^@ NM_053025.3(MYLK):c.2919G>A (p.Pro973=) http://identifiers.org/clinvar/221176 ^@ NM_053025.3(MYLK):c.957G>A (p.Glu319=) http://identifiers.org/clinvar/220830 ^@ NM_002880.3(RAF1):c.462C>G (p.Ile154Met) http://identifiers.org/clinvar/219480 ^@ NM_153240.4(NPHP3):c.3763C>T (p.Arg1255Trp) http://identifiers.org/clinvar/220868 ^@ NM_153240.4(NPHP3):c.2694-2_2694-1delAG http://identifiers.org/clinvar/220910 ^@ NM_020800.2(IFT80):c.2149G>A (p.Ala717Thr) http://identifiers.org/clinvar/220002 ^@ NM_020800.2(IFT80):c.1753A>T (p.Ile585Leu) http://identifiers.org/clinvar/220229 ^@ NM_020800.2(IFT80):c.933A>G (p.Thr311=) http://identifiers.org/clinvar/220946 ^@ NM_006218.3(PIK3CA):c.363C>T (p.Ile121=) http://identifiers.org/clinvar/221056 ^@ NM_021629.3(GNB4):c.196G>A (p.Asp66Asn) http://identifiers.org/clinvar/219718 ^@ NM_181426.1(CCDC39):c.2548A>G (p.Thr850Ala) http://identifiers.org/clinvar/219954 ^@ NM_181426.1(CCDC39):c.2299T>C (p.Leu767=) http://identifiers.org/clinvar/220134 ^@ NM_181426.1(CCDC39):c.2057A>G (p.Asn686Ser) http://identifiers.org/clinvar/221189 ^@ NM_181426.1(CCDC39):c.233G>A (p.Arg78His) http://identifiers.org/clinvar/220516 ^@ NM_000249.3(MLH1):c.-27C>T http://identifiers.org/clinvar/220936 ^@ NM_000249.3(MLH1):c.12G>A (p.Val4=) http://identifiers.org/clinvar/220598 ^@ NM_000249.3(MLH1):c.31C>G (p.Leu11Val) http://identifiers.org/clinvar/220145 ^@ NM_000249.3(MLH1):c.44T>C (p.Val15Ala) http://identifiers.org/clinvar/220346 ^@ NM_000249.3(MLH1):c.111G>T (p.Glu37Asp) http://identifiers.org/clinvar/219994 ^@ NM_000249.3(MLH1):c.261C>T (p.Ser87=) http://identifiers.org/clinvar/219740 ^@ NM_000249.3(MLH1):c.381-1G>A http://identifiers.org/clinvar/220186 ^@ NM_000249.3(MLH1):c.438A>G (p.Gln146=) http://identifiers.org/clinvar/220027 ^@ NM_000249.3(MLH1):c.552A>T (p.Ser184=) http://identifiers.org/clinvar/219679 ^@ NM_000249.3(MLH1):c.626A>C (p.Asn209Thr) http://identifiers.org/clinvar/220367 ^@ NM_000249.3(MLH1):c.650G>A (p.Arg217His) http://identifiers.org/clinvar/220286 ^@ NM_000249.3(MLH1):c.756A>C (p.Ser252=) http://identifiers.org/clinvar/220219 ^@ NM_000249.3(MLH1):c.884+10C>T http://identifiers.org/clinvar/220233 ^@ NM_000249.3(MLH1):c.939A>G (p.Glu313=) http://identifiers.org/clinvar/220640 ^@ NM_000249.3(MLH1):c.1035C>T (p.Thr345=) http://identifiers.org/clinvar/220818 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTA http://identifiers.org/clinvar/220835 ^@ NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTA http://identifiers.org/clinvar/219728 ^@ NM_000249.3(MLH1):c.1118G>A (p.Gly373Glu) http://identifiers.org/clinvar/219943 ^@ NM_000249.3(MLH1):c.1122T>G (p.Ser374Arg) http://identifiers.org/clinvar/220891 ^@ NM_000249.3(MLH1):c.1216A>G (p.Ser406Gly) http://identifiers.org/clinvar/220069 ^@ NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) http://identifiers.org/clinvar/220203 ^@ NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) http://identifiers.org/clinvar/219784 ^@ NM_000249.3(MLH1):c.1318G>A (p.Val440Met) http://identifiers.org/clinvar/219538 ^@ NM_000249.3(MLH1):c.1351A>G (p.Thr451Ala) http://identifiers.org/clinvar/220651 ^@ NM_000249.3(MLH1):c.1476A>C (p.Ala492=) http://identifiers.org/clinvar/220999 ^@ NM_000249.3(MLH1):c.1519T>C (p.Leu507=) http://identifiers.org/clinvar/220185 ^@ NM_000249.3(MLH1):c.1558+1G>A http://identifiers.org/clinvar/220454 ^@ NM_000249.3(MLH1):c.1738G>C (p.Ala580Pro) http://identifiers.org/clinvar/219961 ^@ NM_000249.3(MLH1):c.1775G>A (p.Ser592Asn) http://identifiers.org/clinvar/220846 ^@ NM_000249.3(MLH1):c.1906C>G (p.Leu636Val) http://identifiers.org/clinvar/219626 ^@ NM_000249.3(MLH1):c.2012A>G (p.Glu671Gly) http://identifiers.org/clinvar/221118 ^@ NM_000249.3(MLH1):c.2103+10_2103+14delTGATG http://identifiers.org/clinvar/220284 ^@ NM_000249.3(MLH1):c.2177C>G (p.Ser726Ter) http://identifiers.org/clinvar/219801 ^@ NM_000249.3(MLH1):c.2228T>G (p.Leu743Arg) http://identifiers.org/clinvar/220857 ^@ NM_000249.3(MLH1):c.2235C>T (p.Asn745=) http://identifiers.org/clinvar/220259 ^@ NM_000249.3(MLH1):c.2260G>A (p.Glu754Lys) http://identifiers.org/clinvar/219835 ^@ NM_198056.2(SCN5A):c.5707G>T (p.Val1903Leu) http://identifiers.org/clinvar/220250 ^@ NM_198056.2(SCN5A):c.3583C>T (p.Arg1195Cys) http://identifiers.org/clinvar/220355 ^@ NM_198056.2(SCN5A):c.274-25_274-24delGCinsAT http://identifiers.org/clinvar/220789 ^@ NM_006514.3(SCN10A):c.4568G>A (p.Cys1523Tyr) http://identifiers.org/clinvar/221068 ^@ NM_006514.3(SCN10A):c.3749G>A (p.Arg1250Gln) http://identifiers.org/clinvar/220957 ^@ NM_006514.3(SCN10A):c.3556C>A (p.Leu1186Met) http://identifiers.org/clinvar/220466 ^@ NM_000258.2(MYL3):c.508G>A (p.Glu170Lys) http://identifiers.org/clinvar/220780 ^@ NM_004656.3(BAP1):c.1026C>T (p.Ser342=) http://identifiers.org/clinvar/220641 ^@ NM_004656.3(BAP1):c.1002A>G (p.Leu334=) http://identifiers.org/clinvar/220590 ^@ NM_004656.3(BAP1):c.778C>T (p.Gln260Ter) http://identifiers.org/clinvar/220797 ^@ NM_003280.2(TNNC1):c.336C>T (p.Ile112=) http://identifiers.org/clinvar/221030 ^@ NM_003280.2(TNNC1):c.189G>T (p.Glu63Asp) http://identifiers.org/clinvar/220400 ^@ NM_000313.3(PROS1):c.1816G>A (p.Val606Ile) http://identifiers.org/clinvar/219837 ^@ NM_000313.3(PROS1):c.1681C>T (p.Arg561Trp) http://identifiers.org/clinvar/219922 ^@ NM_001148.4(ANK2):c.84+8G>A http://identifiers.org/clinvar/221140 ^@ NM_001148.4(ANK2):c.1417C>A (p.Arg473=) http://identifiers.org/clinvar/219766 ^@ NM_001148.4(ANK2):c.3255G>T (p.Ala1085=) http://identifiers.org/clinvar/219513 ^@ NM_001148.4(ANK2):c.5607G>A (p.Ala1869=) http://identifiers.org/clinvar/220038 ^@ NM_001148.4(ANK2):c.9996T>C (p.Ser3332=) http://identifiers.org/clinvar/220622 ^@ NM_001148.4(ANK2):c.10395G>A (p.Glu3465=) http://identifiers.org/clinvar/220044 ^@ NM_152618.2(BBS12):c.1257C>T (p.Ser419=) http://identifiers.org/clinvar/220303 ^@ NM_152618.2(BBS12):c.1574G>A (p.Arg525His) http://identifiers.org/clinvar/220235 ^@ NM_001166110.1(PALLD):c.15C>T (p.Ala5=) http://identifiers.org/clinvar/220678 ^@ NM_001166110.1(PALLD):c.41C>T (p.Ser14Phe) http://identifiers.org/clinvar/220583 ^@ NM_001166110.1(PALLD):c.90G>A (p.Gln30=) http://identifiers.org/clinvar/220214 ^@ NM_001166110.1(PALLD):c.118A>C (p.Thr40Pro) http://identifiers.org/clinvar/219522 ^@ NM_001166110.1(PALLD):c.254C>T (p.Ser85Leu) http://identifiers.org/clinvar/220482 ^@ NM_001166110.1(PALLD):c.270_275dupCCCGCC (p.Pro94_Val95insProPro) http://identifiers.org/clinvar/219436 ^@ NM_001166110.1(PALLD):c.273_278dupGCCACC (p.Pro94_Val95insProPro) http://identifiers.org/clinvar/219732 ^@ NM_001166110.1(PALLD):c.295A>C (p.Thr99Pro) http://identifiers.org/clinvar/220586 ^@ NM_001166110.1(PALLD):c.339A>C (p.Pro113=) http://identifiers.org/clinvar/219949 ^@ NM_001166110.1(PALLD):c.348G>A (p.Pro116=) http://identifiers.org/clinvar/219565 ^@ NM_001166110.1(PALLD):c.465C>T (p.Ala155=) http://identifiers.org/clinvar/220455 ^@ NM_001166110.1(PALLD):c.517_519delAAG (p.Lys173del) http://identifiers.org/clinvar/220606 ^@ NM_001166110.1(PALLD):c.547G>A (p.Asp183Asn) http://identifiers.org/clinvar/220716 ^@ NM_001166110.1(PALLD):c.669T>C (p.Arg223=) http://identifiers.org/clinvar/219960 ^@ NM_001166110.1(PALLD):c.702T>G (p.Phe234Leu) http://identifiers.org/clinvar/219755 ^@ NM_001166110.1(PALLD):c.821G>T (p.Gly274Val) http://identifiers.org/clinvar/220035 ^@ NM_001166110.1(PALLD):c.835T>G (p.Tyr279Asp) http://identifiers.org/clinvar/219932 ^@ NM_001166110.1(PALLD):c.1008C>A (p.His336Gln) http://identifiers.org/clinvar/220118 ^@ NM_001166110.1(PALLD):c.1064C>T (p.Thr355Ile) http://identifiers.org/clinvar/219554 ^@ NM_001166110.1(PALLD):c.1114C>T (p.Arg372Cys) http://identifiers.org/clinvar/220991 ^@ NM_001166110.1(PALLD):c.1665T>A (p.Phe555Leu) http://identifiers.org/clinvar/220349 ^@ NM_001166110.1(PALLD):c.1742G>A (p.Cys581Tyr) http://identifiers.org/clinvar/219672 ^@ NM_001166110.1(PALLD):c.1846+9C>G http://identifiers.org/clinvar/221101 ^@ NM_006206.4(PDGFRA):c.996C>T (p.Val332=) http://identifiers.org/clinvar/220810 ^@ NM_006206.4(PDGFRA):c.1133A>T (p.Lys378Ile) http://identifiers.org/clinvar/221146 ^@ NM_006206.4(PDGFRA):c.2323+9G>A http://identifiers.org/clinvar/221113 ^@ NM_006206.4(PDGFRA):c.2483A>G (p.Gln828Arg) http://identifiers.org/clinvar/220817 ^@ NM_006206.4(PDGFRA):c.2778C>T (p.Tyr926=) http://identifiers.org/clinvar/221041 ^@ NM_000222.2(KIT):c.67+4G>A http://identifiers.org/clinvar/220935 ^@ NM_000222.2(KIT):c.86T>A (p.Val29Glu) http://identifiers.org/clinvar/221126 ^@ NM_000222.2(KIT):c.123A>T (p.Pro41=) http://identifiers.org/clinvar/220764 ^@ NM_000222.2(KIT):c.252G>T (p.Thr84=) http://identifiers.org/clinvar/221047 ^@ NM_000222.2(KIT):c.1049A>G (p.Tyr350Cys) http://identifiers.org/clinvar/221149 ^@ NM_000222.2(KIT):c.1119C>T (p.Tyr373=) http://identifiers.org/clinvar/220839 ^@ NM_000222.2(KIT):c.1598C>G (p.Ala533Gly) http://identifiers.org/clinvar/220634 ^@ NM_000222.2(KIT):c.1674G>A (p.Lys558=) http://identifiers.org/clinvar/220914 ^@ NM_000222.2(KIT):c.1794A>T (p.Gly598=) http://identifiers.org/clinvar/220917 ^@ NM_000222.2(KIT):c.2622G>A (p.Pro874=) http://identifiers.org/clinvar/221133 ^@ NM_000222.2(KIT):c.2805T>A (p.Ile935=) http://identifiers.org/clinvar/219942 ^@ NM_000297.3(PKD2):c.289_291delGAG (p.Glu102del) http://identifiers.org/clinvar/220406 ^@ NM_000297.3(PKD2):c.901A>G (p.Thr301Ala) http://identifiers.org/clinvar/219481 ^@ NM_000297.3(PKD2):c.1445T>G (p.Phe482Cys) http://identifiers.org/clinvar/220269 ^@ NM_000297.3(PKD2):c.1555G>A (p.Val519Met) http://identifiers.org/clinvar/219985 ^@ NM_000297.3(PKD2):c.2398A>C (p.Met800Leu) http://identifiers.org/clinvar/220091 ^@ NM_000297.3(PKD2):c.2420G>A (p.Arg807Gln) http://identifiers.org/clinvar/219870 ^@ NM_000038.5(APC):c.36A>G (p.Gln12=) http://identifiers.org/clinvar/220546 ^@ NM_000038.5(APC):c.171T>C (p.Asp57=) http://identifiers.org/clinvar/220362 ^@ NM_000038.5(APC):c.220+10_220+12delAAA http://identifiers.org/clinvar/220276 ^@ NM_000038.5(APC):c.362G>T (p.Arg121Ile) http://identifiers.org/clinvar/220252 ^@ NM_000038.5(APC):c.422+6T>C http://identifiers.org/clinvar/220342 ^@ NM_000038.5(APC):c.459G>A (p.Lys153=) http://identifiers.org/clinvar/220129 ^@ NM_000038.5(APC):c.546A>G (p.Thr182=) http://identifiers.org/clinvar/219463 ^@ NM_000038.5(APC):c.582G>A (p.Arg194=) http://identifiers.org/clinvar/220905 ^@ NM_000038.5(APC):c.624G>A (p.Gln208=) http://identifiers.org/clinvar/220329 ^@ NM_000038.5(APC):c.715G>C (p.Ala239Pro) http://identifiers.org/clinvar/219991 ^@ NM_000038.5(APC):c.1050T>G (p.Ser350=) http://identifiers.org/clinvar/220086 ^@ NM_000038.5(APC):c.1443G>A (p.Val481=) http://identifiers.org/clinvar/219535 ^@ NM_000038.5(APC):c.1589T>C (p.Val530Ala) http://identifiers.org/clinvar/220470 ^@ NM_000038.5(APC):c.1989A>G (p.Gln663=) http://identifiers.org/clinvar/219859 ^@ NM_000038.5(APC):c.2441T>G (p.Phe814Cys) http://identifiers.org/clinvar/221081 ^@ NM_000038.5(APC):c.2627G>A (p.Arg876Gln) http://identifiers.org/clinvar/219437 ^@ NM_000038.5(APC):c.2642C>T (p.Ser881Phe) http://identifiers.org/clinvar/219792 ^@ NM_000038.5(APC):c.2687C>T (p.Ala896Val) http://identifiers.org/clinvar/220833 ^@ NM_000038.5(APC):c.2696C>G (p.Thr899Ser) http://identifiers.org/clinvar/220939 ^@ NM_000038.5(APC):c.2775C>G (p.Ser925Arg) http://identifiers.org/clinvar/219967 ^@ NM_000038.5(APC):c.2975G>C (p.Ser992Thr) http://identifiers.org/clinvar/220693 ^@ NM_000038.5(APC):c.2991T>C (p.Tyr997=) http://identifiers.org/clinvar/219621 ^@ NM_000038.5(APC):c.3025C>T (p.His1009Tyr) http://identifiers.org/clinvar/220569 ^@ NM_000038.5(APC):c.3029G>A (p.Ser1010Asn) http://identifiers.org/clinvar/219459 ^@ NM_000038.5(APC):c.3242G>A (p.Ser1081Asn) http://identifiers.org/clinvar/220262 ^@ NM_000038.5(APC):c.3279T>G (p.Phe1093Leu) http://identifiers.org/clinvar/220743 ^@ NM_000038.5(APC):c.3323A>G (p.Asn1108Ser) http://identifiers.org/clinvar/219434 ^@ NM_000038.5(APC):c.3404_3405delAT (p.Tyr1135Terfs) http://identifiers.org/clinvar/219466 ^@ NM_000038.5(APC):c.3595_3596delAA (p.Lys1199Glufs) http://identifiers.org/clinvar/219492 ^@ NM_000038.5(APC):c.3606T>C (p.Ser1202=) http://identifiers.org/clinvar/219657 ^@ NM_000038.5(APC):c.3612A>G (p.Gln1204=) http://identifiers.org/clinvar/220908 ^@ NM_000038.5(APC):c.3708A>G (p.Ala1236=) http://identifiers.org/clinvar/220089 ^@ NM_000038.5(APC):c.4018_4020dupTCT (p.Ser1341_Leu1342insSer) http://identifiers.org/clinvar/220144 ^@ NM_000038.5(APC):c.4074G>A (p.Ala1358=) http://identifiers.org/clinvar/219933 ^@ NM_000038.5(APC):c.4134G>A (p.Gln1378=) http://identifiers.org/clinvar/220326 ^@ NM_000038.5(APC):c.4332A>G (p.Gln1444=) http://identifiers.org/clinvar/220519 ^@ NM_000038.5(APC):c.4344C>T (p.Thr1448=) http://identifiers.org/clinvar/220814 ^@ NM_000038.5(APC):c.4962T>C (p.Ala1654=) http://identifiers.org/clinvar/219989 ^@ NM_000038.5(APC):c.4965A>G (p.Thr1655=) http://identifiers.org/clinvar/220587 ^@ NM_000038.5(APC):c.5115C>G (p.Thr1705=) http://identifiers.org/clinvar/219793 ^@ NM_000038.5(APC):c.5189C>T (p.Ser1730Phe) http://identifiers.org/clinvar/221112 ^@ NM_000038.5(APC):c.5240T>C (p.Met1747Thr) http://identifiers.org/clinvar/219794 ^@ NM_000038.5(APC):c.5282A>G (p.Asn1761Ser) http://identifiers.org/clinvar/219614 ^@ NM_000038.5(APC):c.5712A>G (p.Gln1904=) http://identifiers.org/clinvar/219739 ^@ NM_000038.5(APC):c.5752A>G (p.Ile1918Val) http://identifiers.org/clinvar/219743 ^@ NM_000038.5(APC):c.5826_5829delCAGA (p.Asp1942Glufs) http://identifiers.org/clinvar/220442 ^@ NM_000038.5(APC):c.5982C>G (p.Asp1994Glu) http://identifiers.org/clinvar/219927 ^@ NM_000038.5(APC):c.6109G>A (p.Asp2037Asn) http://identifiers.org/clinvar/220427 ^@ NM_000038.5(APC):c.6440C>T (p.Pro2147Leu) http://identifiers.org/clinvar/219930 ^@ NM_000038.5(APC):c.6514G>A (p.Glu2172Lys) http://identifiers.org/clinvar/219461 ^@ NM_000038.5(APC):c.6586A>G (p.Lys2196Glu) http://identifiers.org/clinvar/220514 ^@ NM_000038.5(APC):c.6794A>T (p.Gln2265Leu) http://identifiers.org/clinvar/220813 ^@ NM_000038.5(APC):c.7026A>G (p.Leu2342=) http://identifiers.org/clinvar/220060 ^@ NM_000038.5(APC):c.7079G>T (p.Gly2360Val) http://identifiers.org/clinvar/221147 ^@ NM_000038.5(APC):c.7089A>G (p.Lys2363=) http://identifiers.org/clinvar/220313 ^@ NM_000038.5(APC):c.7143A>C (p.Gln2381His) http://identifiers.org/clinvar/219987 ^@ NM_000038.5(APC):c.7166G>T (p.Ser2389Ile) http://identifiers.org/clinvar/219778 ^@ NM_000038.5(APC):c.7211T>A (p.Met2404Lys) http://identifiers.org/clinvar/219516 ^@ NM_000038.5(APC):c.7339G>A (p.Ala2447Thr) http://identifiers.org/clinvar/220127 ^@ NM_000038.5(APC):c.7557T>C (p.Asp2519=) http://identifiers.org/clinvar/219890 ^@ NM_000038.5(APC):c.7564C>A (p.Pro2522Thr) http://identifiers.org/clinvar/219895 ^@ NM_000038.5(APC):c.7577A>G (p.His2526Arg) http://identifiers.org/clinvar/220176 ^@ NM_000038.5(APC):c.7594C>T (p.His2532Tyr) http://identifiers.org/clinvar/219455 ^@ NM_000038.5(APC):c.7632A>G (p.Ser2544=) http://identifiers.org/clinvar/219776 ^@ NM_000038.5(APC):c.7945C>T (p.Pro2649Ser) http://identifiers.org/clinvar/220017 ^@ NM_000038.5(APC):c.8043G>A (p.Pro2681=) http://identifiers.org/clinvar/219678 ^@ NM_000038.5(APC):c.8140C>A (p.Arg2714Ser) http://identifiers.org/clinvar/219391 ^@ NM_000038.5(APC):c.8265T>C (p.Ser2755=) http://identifiers.org/clinvar/219781 ^@ NM_000038.5(APC):c.8433C>T (p.Asn2811=) http://identifiers.org/clinvar/219694 ^@ NM_000038.5(APC):c.8439A>C (p.Thr2813=) http://identifiers.org/clinvar/220319 ^@ NM_000038.5(APC):c.8484C>G (p.Thr2828=) http://identifiers.org/clinvar/220856 ^@ NM_000038.5(APC):c.*248A>G http://identifiers.org/clinvar/220511 ^@ NM_001182.4(ALDH7A1):c.1193G>T (p.Gly398Val) http://identifiers.org/clinvar/220512 ^@ NM_001182.4(ALDH7A1):c.986G>A (p.Arg329Lys) http://identifiers.org/clinvar/219413 ^@ NM_001182.4(ALDH7A1):c.584A>G (p.Asn195Ser) http://identifiers.org/clinvar/220686 ^@ NM_001999.3(FBN2):c.5917+9T>G http://identifiers.org/clinvar/220322 ^@ NM_005732.3(RAD50):c.127A>G (p.Thr43Ala) http://identifiers.org/clinvar/219931 ^@ NM_005732.3(RAD50):c.132C>G (p.Thr44=) http://identifiers.org/clinvar/220251 ^@ NM_005732.3(RAD50):c.160A>G (p.Thr54Ala) http://identifiers.org/clinvar/219474 ^@ NM_005732.3(RAD50):c.403G>A (p.Glu135Lys) http://identifiers.org/clinvar/219996 ^@ NM_005732.3(RAD50):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/220034 ^@ NM_005732.3(RAD50):c.642G>A (p.Lys214=) http://identifiers.org/clinvar/220841 ^@ NM_005732.3(RAD50):c.756+8G>T http://identifiers.org/clinvar/220625 ^@ NM_005732.3(RAD50):c.761G>A (p.Arg254His) http://identifiers.org/clinvar/220749 ^@ NM_005732.3(RAD50):c.790A>G (p.Lys264Glu) http://identifiers.org/clinvar/220537 ^@ NM_005732.3(RAD50):c.833G>T (p.Arg278Leu) http://identifiers.org/clinvar/221110 ^@ NM_005732.3(RAD50):c.908A>C (p.Gln303Pro) http://identifiers.org/clinvar/219495 ^@ NM_005732.3(RAD50):c.915T>C (p.Asn305=) http://identifiers.org/clinvar/220087 ^@ NM_005732.3(RAD50):c.1005A>G (p.Glu335=) http://identifiers.org/clinvar/220873 ^@ NM_005732.3(RAD50):c.1051+10A>G http://identifiers.org/clinvar/219813 ^@ NM_005732.3(RAD50):c.1192A>G (p.Lys398Glu) http://identifiers.org/clinvar/219574 ^@ NM_005732.3(RAD50):c.1356G>A (p.Lys452=) http://identifiers.org/clinvar/219490 ^@ NM_005732.3(RAD50):c.1592A>G (p.His531Arg) http://identifiers.org/clinvar/219842 ^@ NM_005732.3(RAD50):c.1679G>T (p.Ser560Ile) http://identifiers.org/clinvar/220806 ^@ NM_005732.3(RAD50):c.1815_1816delGCinsAA (p.Gln606Lys) http://identifiers.org/clinvar/219689 ^@ NM_005732.3(RAD50):c.1831A>G (p.Ile611Val) http://identifiers.org/clinvar/220719 ^@ NM_005732.3(RAD50):c.1875C>G (p.Tyr625Ter) http://identifiers.org/clinvar/220807 ^@ NM_005732.3(RAD50):c.2079G>C (p.Glu693Asp) http://identifiers.org/clinvar/220136 ^@ NM_005732.3(RAD50):c.2260_2266delCTGCAGA (p.Leu754Metfs) http://identifiers.org/clinvar/219777 ^@ NM_005732.3(RAD50):c.2372A>G (p.Asp791Gly) http://identifiers.org/clinvar/220005 ^@ NM_005732.3(RAD50):c.2595T>C (p.Ser865=) http://identifiers.org/clinvar/220227 ^@ NM_005732.3(RAD50):c.2713A>G (p.Ile905Val) http://identifiers.org/clinvar/219774 ^@ NM_005732.3(RAD50):c.2892T>C (p.Tyr964=) http://identifiers.org/clinvar/221088 ^@ NM_005732.3(RAD50):c.2914T>C (p.Tyr972His) http://identifiers.org/clinvar/220197 ^@ NM_005732.3(RAD50):c.3048G>T (p.Arg1016Ser) http://identifiers.org/clinvar/220636 ^@ NM_005732.3(RAD50):c.3178T>A (p.Leu1060Met) http://identifiers.org/clinvar/220536 ^@ NM_005732.3(RAD50):c.3293G>A (p.Arg1098Gln) http://identifiers.org/clinvar/219419 ^@ NM_005732.3(RAD50):c.3486C>T (p.Tyr1162=) http://identifiers.org/clinvar/219874 ^@ NM_005732.3(RAD50):c.3660G>A (p.Thr1220=) http://identifiers.org/clinvar/220951 ^@ NM_005732.3(RAD50):c.3752+3A>G http://identifiers.org/clinvar/220457 ^@ NM_005732.3(RAD50):c.3752+12_3752+41del30 http://identifiers.org/clinvar/219611 ^@ NM_005732.3(RAD50):c.3756A>C (p.Ile1252=) http://identifiers.org/clinvar/219421 ^@ NM_005732.3(RAD50):c.3766C>A (p.Arg1256Ser) http://identifiers.org/clinvar/219653 ^@ NM_001369.2(DNAH5):c.13778C>T (p.Thr4593Met) http://identifiers.org/clinvar/219652 ^@ NM_001369.2(DNAH5):c.12379C>T (p.Arg4127Cys) http://identifiers.org/clinvar/220051 ^@ NM_001369.2(DNAH5):c.12251G>A (p.Arg4084Gln) http://identifiers.org/clinvar/219734 ^@ NM_001369.2(DNAH5):c.8999G>A (p.Arg3000Gln) http://identifiers.org/clinvar/220402 ^@ NM_001369.2(DNAH5):c.6335_6336insT (p.Gln2112Hisfs) http://identifiers.org/clinvar/220581 ^@ NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) http://identifiers.org/clinvar/220475 ^@ NM_001369.2(DNAH5):c.5281C>T (p.Arg1761Ter) http://identifiers.org/clinvar/220401 ^@ NM_001369.2(DNAH5):c.4605dupT (p.Ile1536Tyrfs) http://identifiers.org/clinvar/219733 ^@ NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) http://identifiers.org/clinvar/219719 ^@ NM_001369.2(DNAH5):c.574G>A (p.Ala192Thr) http://identifiers.org/clinvar/220045 ^@ NM_001369.2(DNAH5):c.88C>T (p.Arg30Trp) http://identifiers.org/clinvar/219799 ^@ NM_024577.3(SH3TC2):c.3847G>C (p.Gly1283Arg) http://identifiers.org/clinvar/219968 ^@ NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) http://identifiers.org/clinvar/221185 ^@ NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) http://identifiers.org/clinvar/220822 ^@ NM_024577.3(SH3TC2):c.3303delG (p.Arg1101Serfs) http://identifiers.org/clinvar/220408 ^@ NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) http://identifiers.org/clinvar/219705 ^@ NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) http://identifiers.org/clinvar/220505 ^@ NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) http://identifiers.org/clinvar/219388 ^@ NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) http://identifiers.org/clinvar/219800 ^@ NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) http://identifiers.org/clinvar/220821 ^@ NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) http://identifiers.org/clinvar/219741 ^@ NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) http://identifiers.org/clinvar/220296 ^@ NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) http://identifiers.org/clinvar/221062 ^@ NM_004168.3(SDHA):c.550G>A (p.Gly184Arg) http://identifiers.org/clinvar/221076 ^@ NM_004168.3(SDHA):c.704T>C (p.Ile235Thr) http://identifiers.org/clinvar/220782 ^@ NM_004168.3(SDHA):c.1951G>A (p.Glu651Lys) http://identifiers.org/clinvar/220428 ^@ NM_138694.3(PKHD1):c.8108-?_8173+?del http://identifiers.org/clinvar/220332 ^@ NM_014845.5(FIG4):c.66+10C>T http://identifiers.org/clinvar/219914 ^@ NM_014845.5(FIG4):c.1040-4T>C http://identifiers.org/clinvar/220189 ^@ NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) http://identifiers.org/clinvar/220851 ^@ NM_002667.4(PLN):c.-236C>G http://identifiers.org/clinvar/219476 ^@ NM_017651.4(AHI1):c.3589-5T>C http://identifiers.org/clinvar/220133 ^@ NM_017651.4(AHI1):c.2961+9A>T http://identifiers.org/clinvar/220132 ^@ NM_017651.4(AHI1):c.2961+6_2961+7insGAC http://identifiers.org/clinvar/220041 ^@ NM_017651.4(AHI1):c.2421G>A (p.Glu807=) http://identifiers.org/clinvar/219411 ^@ NM_000410.3(HFE):c.189T>C (p.His63=) http://identifiers.org/clinvar/221002 ^@ NM_021922.2(FANCE):c.1572G>A (p.Arg524=) http://identifiers.org/clinvar/220293 ^@ NM_152732.4(RSPH9):c.415C>T (p.Arg139Cys) http://identifiers.org/clinvar/220094 ^@ NM_138694.3(PKHD1):c.9577G>A (p.Val3193Ile) http://identifiers.org/clinvar/219442 ^@ NM_138694.3(PKHD1):c.6996G>A (p.Glu2332=) http://identifiers.org/clinvar/220460 ^@ NM_138694.3(PKHD1):c.5642C>A (p.Ser1881Tyr) http://identifiers.org/clinvar/220863 ^@ NM_138694.3(PKHD1):c.5587G>T (p.Gly1863Cys) http://identifiers.org/clinvar/220862 ^@ NM_138694.3(PKHD1):c.1063G>T (p.Val355Phe) http://identifiers.org/clinvar/220081 ^@ NM_138694.3(PKHD1):c.888A>T (p.Pro296=) http://identifiers.org/clinvar/219566 ^@ NM_138694.3(PKHD1):c.208C>T (p.Pro70Ser) http://identifiers.org/clinvar/220130 ^@ NM_001127500.2(MET):c.(?_-1)_1200+?dup http://identifiers.org/clinvar/219811 ^@ NM_000535.6(PMS2):c.538-?_903+?del http://identifiers.org/clinvar/221188 ^@ NM_003227.3(TFR2):c.2255G>A (p.Arg752His) http://identifiers.org/clinvar/219806 ^@ NM_003227.3(TFR2):c.2246G>A (p.Arg749Gln) http://identifiers.org/clinvar/220387 ^@ NM_003227.3(TFR2):c.2085G>C (p.Ser695=) http://identifiers.org/clinvar/221011 ^@ NM_003227.3(TFR2):c.1995+9G>C http://identifiers.org/clinvar/220212 ^@ NM_003227.3(TFR2):c.665A>T (p.Glu222Val) http://identifiers.org/clinvar/219710 ^@ NM_001127500.2(MET):c.36C>T (p.Leu12=) http://identifiers.org/clinvar/219723 ^@ NM_001127500.2(MET):c.141C>T (p.Thr47=) http://identifiers.org/clinvar/219395 ^@ NM_001127500.2(MET):c.798G>A (p.Arg266=) http://identifiers.org/clinvar/219769 ^@ NM_001127500.2(MET):c.1063G>A (p.Glu355Lys) http://identifiers.org/clinvar/220389 ^@ NM_001127500.2(MET):c.1279G>A (p.Val427Ile) http://identifiers.org/clinvar/219986 ^@ NM_001127500.2(MET):c.1896G>A (p.Lys632=) http://identifiers.org/clinvar/219460 ^@ NM_001127500.2(MET):c.2110A>G (p.Asn704Asp) http://identifiers.org/clinvar/219422 ^@ NM_001127500.2(MET):c.2609T>A (p.Met870Lys) http://identifiers.org/clinvar/220030 ^@ NM_001127500.2(MET):c.2622T>C (p.Asn874=) http://identifiers.org/clinvar/220897 ^@ NM_001127500.2(MET):c.2739G>A (p.Thr913=) http://identifiers.org/clinvar/220139 ^@ NM_001127500.2(MET):c.2785-8A>T http://identifiers.org/clinvar/219821 ^@ NM_001127500.2(MET):c.3253C>A (p.Gln1085Lys) http://identifiers.org/clinvar/220429 ^@ NM_001127500.2(MET):c.3314-4A>G http://identifiers.org/clinvar/221192 ^@ NM_001127500.2(MET):c.3350A>G (p.Asp1117Gly) http://identifiers.org/clinvar/219564 ^@ NM_001127500.2(MET):c.4071G>C (p.Ala1357=) http://identifiers.org/clinvar/219692 ^@ NM_001127500.2(MET):c.4096C>A (p.His1366Asn) http://identifiers.org/clinvar/220444 ^@ NM_001127500.2(MET):c.4154C>G (p.Ser1385Cys) http://identifiers.org/clinvar/220811 ^@ NM_001127500.2(MET):c.4176C>T (p.Asn1392=) http://identifiers.org/clinvar/220057 ^@ NM_001127500.2(MET):c.4199G>A (p.Arg1400Gln) http://identifiers.org/clinvar/219537 ^@ NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) http://identifiers.org/clinvar/220255 ^@ NM_004333.4(BRAF):c.72G>A (p.Glu24=) http://identifiers.org/clinvar/219924 ^@ NM_000238.3(KCNH2):c.3094delC (p.Arg1032Glyfs) http://identifiers.org/clinvar/219597 ^@ NM_000238.3(KCNH2):c.3060delC (p.Ser1021Alafs) http://identifiers.org/clinvar/220208 ^@ NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) http://identifiers.org/clinvar/219615 ^@ NM_000238.3(KCNH2):c.2127C>T (p.Asn709=) http://identifiers.org/clinvar/220202 ^@ NM_000238.3(KCNH2):c.1809C>T (p.Gly603=) http://identifiers.org/clinvar/220162 ^@ NM_000238.3(KCNH2):c.1582C>T (p.Arg528Trp) http://identifiers.org/clinvar/220070 ^@ NM_000238.3(KCNH2):c.853G>A (p.Ala285Thr) http://identifiers.org/clinvar/220543 ^@ NM_000238.3(KCNH2):c.621C>T (p.Ser207=) http://identifiers.org/clinvar/219562 ^@ NM_000238.3(KCNH2):c.348_350delGAA (p.Lys116del) http://identifiers.org/clinvar/221199 ^@ NM_001277115.1(DNAH11):c.693-9T>C http://identifiers.org/clinvar/220049 ^@ NM_001277115.1(DNAH11):c.1749T>A (p.Val583=) http://identifiers.org/clinvar/220228 ^@ NM_001277115.1(DNAH11):c.2542G>A (p.Val848Met) http://identifiers.org/clinvar/219978 ^@ NM_001277115.1(DNAH11):c.2576C>T (p.Ala859Val) http://identifiers.org/clinvar/221197 ^@ NM_001277115.1(DNAH11):c.3105G>A (p.Glu1035=) http://identifiers.org/clinvar/221193 ^@ NM_001277115.1(DNAH11):c.3384C>T (p.Ser1128=) http://identifiers.org/clinvar/219979 ^@ NM_001277115.1(DNAH11):c.4230G>T (p.Trp1410Cys) http://identifiers.org/clinvar/220718 ^@ NM_001277115.1(DNAH11):c.4501-7A>T http://identifiers.org/clinvar/220580 ^@ NM_001277115.1(DNAH11):c.4920C>T (p.Leu1640=) http://identifiers.org/clinvar/219477 ^@ NM_001277115.1(DNAH11):c.5132A>G (p.Gln1711Arg) http://identifiers.org/clinvar/221195 ^@ NM_001277115.1(DNAH11):c.5691C>T (p.Thr1897=) http://identifiers.org/clinvar/220082 ^@ NM_001277115.1(DNAH11):c.6295G>A (p.Asp2099Asn) http://identifiers.org/clinvar/221198 ^@ NM_001277115.1(DNAH11):c.6547-5C>G http://identifiers.org/clinvar/220425 ^@ NM_001277115.1(DNAH11):c.7294C>T (p.Arg2432Trp) http://identifiers.org/clinvar/220474 ^@ NM_001277115.1(DNAH11):c.8478C>T (p.His2826=) http://identifiers.org/clinvar/221006 ^@ NM_001277115.1(DNAH11):c.9468T>C (p.Asp3156=) http://identifiers.org/clinvar/219980 ^@ NM_001277115.1(DNAH11):c.9907A>G (p.Ile3303Val) http://identifiers.org/clinvar/221194 ^@ NM_001277115.1(DNAH11):c.12561T>G (p.Asp4187Glu) http://identifiers.org/clinvar/220048 ^@ NM_001277115.1(DNAH11):c.12632C>T (p.Pro4211Leu) http://identifiers.org/clinvar/221196 ^@ NM_001277115.1(DNAH11):c.13176G>C (p.Thr4392=) http://identifiers.org/clinvar/220422 ^@ NM_002047.3(GARS):c.11C>T (p.Pro4Leu) http://identifiers.org/clinvar/220645 ^@ NM_002047.3(GARS):c.1751T>A (p.Ile584Asn) http://identifiers.org/clinvar/219915 ^@ NM_002047.3(GARS):c.1962C>T (p.Ile654=) http://identifiers.org/clinvar/220123 ^@ NM_198428.2(BBS9):c.1487C>T (p.Thr496Ile) http://identifiers.org/clinvar/221007 ^@ NM_016616.4(NME8):c.1478_1479delTAinsCT (p.Ile493Thr) http://identifiers.org/clinvar/220657 ^@ NM_014855.2(AP5Z1):c.588C>T (p.Ser196=) http://identifiers.org/clinvar/220363 ^@ NM_000535.6(PMS2):c.2565C>T (p.Asn855=) http://identifiers.org/clinvar/219854 ^@ NM_000535.6(PMS2):c.2446-5C>T http://identifiers.org/clinvar/220740 ^@ NM_000535.6(PMS2):c.2380C>T (p.Pro794Ser) http://identifiers.org/clinvar/221164 ^@ NM_000535.6(PMS2):c.2373C>T (p.Ser791=) http://identifiers.org/clinvar/220273 ^@ NM_000535.6(PMS2):c.2265C>T (p.Ile755=) http://identifiers.org/clinvar/220760 ^@ NM_000535.6(PMS2):c.1864A>G (p.Met622Val) http://identifiers.org/clinvar/219903 ^@ NM_000535.6(PMS2):c.1850C>T (p.Pro617Leu) http://identifiers.org/clinvar/219450 ^@ NM_000535.6(PMS2):c.1849C>T (p.Pro617Ser) http://identifiers.org/clinvar/219671 ^@ NM_000535.6(PMS2):c.1803A>G (p.Ser601=) http://identifiers.org/clinvar/220605 ^@ NM_000535.6(PMS2):c.1750dupA (p.Ile584Asnfs) http://identifiers.org/clinvar/219612 ^@ NM_000535.6(PMS2):c.1552G>A (p.Glu518Lys) http://identifiers.org/clinvar/220368 ^@ NM_000535.6(PMS2):c.1507T>G (p.Ser503Ala) http://identifiers.org/clinvar/220155 ^@ NM_000535.6(PMS2):c.1482G>A (p.Ser494=) http://identifiers.org/clinvar/220433 ^@ NM_000535.6(PMS2):c.1438G>A (p.Gly480Arg) http://identifiers.org/clinvar/220557 ^@ NM_000535.6(PMS2):c.1423G>A (p.Val475Met) http://identifiers.org/clinvar/219964 ^@ NM_000535.6(PMS2):c.1373C>T (p.Thr458Ile) http://identifiers.org/clinvar/220502 ^@ NM_000535.6(PMS2):c.1225G>C (p.Gly409Arg) http://identifiers.org/clinvar/220597 ^@ NM_000535.6(PMS2):c.1191A>G (p.Val397=) http://identifiers.org/clinvar/219951 ^@ NM_000535.6(PMS2):c.1164T>A (p.His388Gln) http://identifiers.org/clinvar/219486 ^@ NM_000535.6(PMS2):c.1103A>G (p.Asn368Ser) http://identifiers.org/clinvar/219846 ^@ NM_000535.6(PMS2):c.962T>C (p.Val321Ala) http://identifiers.org/clinvar/219646 ^@ NM_000535.6(PMS2):c.903+4T>C http://identifiers.org/clinvar/219729 ^@ NM_000535.6(PMS2):c.738C>G (p.Pro246=) http://identifiers.org/clinvar/220374 ^@ NM_000535.6(PMS2):c.684C>T (p.Gly228=) http://identifiers.org/clinvar/220964 ^@ NM_000535.6(PMS2):c.641T>G (p.Val214Gly) http://identifiers.org/clinvar/219843 ^@ NM_000535.6(PMS2):c.537+4C>G http://identifiers.org/clinvar/219408 ^@ NM_000535.6(PMS2):c.537G>A (p.Lys179=) http://identifiers.org/clinvar/220437 ^@ NM_000535.6(PMS2):c.530T>C (p.Ile177Thr) http://identifiers.org/clinvar/219749 ^@ NM_000535.6(PMS2):c.331C>G (p.Leu111Val) http://identifiers.org/clinvar/220668 ^@ NM_000535.6(PMS2):c.256A>C (p.Lys86Gln) http://identifiers.org/clinvar/219847 ^@ NM_000535.6(PMS2):c.251C>G (p.Thr84Ser) http://identifiers.org/clinvar/220390 ^@ NM_000535.6(PMS2):c.203_208delTTTCAG (p.Val68_Ser69del) http://identifiers.org/clinvar/221108 ^@ NM_000535.6(PMS2):c.163+4A>G http://identifiers.org/clinvar/219785 ^@ NM_000535.6(PMS2):c.139C>G (p.Leu47Val) http://identifiers.org/clinvar/219674 ^@ NM_000535.6(PMS2):c.121G>T (p.Glu41Ter) http://identifiers.org/clinvar/220380 ^@ NM_001540.3(HSPB1):c.99C>T (p.Phe33=) http://identifiers.org/clinvar/220419 ^@ NM_001540.3(HSPB1):c.250G>C (p.Gly84Arg) http://identifiers.org/clinvar/220552 ^@ NM_000722.3(CACNA2D1):c.1530G>A (p.Gly510=) http://identifiers.org/clinvar/220682 ^@ NM_000722.3(CACNA2D1):c.355-6_355-5dupTT http://identifiers.org/clinvar/221019 ^@ NM_000722.3(CACNA2D1):c.355-5delT http://identifiers.org/clinvar/219401 ^@ NM_005751.4(AKAP9):c.747A>G (p.Glu249=) http://identifiers.org/clinvar/220956 ^@ NM_005751.4(AKAP9):c.1262G>A (p.Arg421Gln) http://identifiers.org/clinvar/220037 ^@ NM_005751.4(AKAP9):c.3072G>C (p.Val1024=) http://identifiers.org/clinvar/221111 ^@ NM_005751.4(AKAP9):c.3223T>C (p.Leu1075=) http://identifiers.org/clinvar/220501 ^@ NM_005751.4(AKAP9):c.5978-4A>G http://identifiers.org/clinvar/219512 ^@ NM_005751.4(AKAP9):c.8575G>T (p.Val2859Phe) http://identifiers.org/clinvar/221008 ^@ NM_172218.2(SPAG1):c.1059_1060insGAC (p.Lys353_Ser354insAsp) http://identifiers.org/clinvar/220979 ^@ NM_002052.4(GATA4):c.99G>T (p.Ala33=) http://identifiers.org/clinvar/219828 ^@ NM_014846.3(WASHC5):c.*3delG http://identifiers.org/clinvar/220896 ^@ NM_014846.3(WASHC5):c.1408+4A>C http://identifiers.org/clinvar/219414 ^@ NM_014846.3(WASHC5):c.867A>C (p.Val289=) http://identifiers.org/clinvar/219798 ^@ NM_006096.3(NDRG1):c.507G>A (p.Ala169=) http://identifiers.org/clinvar/220934 ^@ NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) http://identifiers.org/clinvar/219981 ^@ NM_003923.2(FOXH1):c.771C>A (p.Gly257=) http://identifiers.org/clinvar/220209 ^@ NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) http://identifiers.org/clinvar/220372 ^@ NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) http://identifiers.org/clinvar/219429 ^@ NM_006158.4(NEFL):c.65C>A (p.Pro22His) http://identifiers.org/clinvar/220418 ^@ NM_017780.3(CHD7):c.2376+4A>G http://identifiers.org/clinvar/220434 ^@ NM_017780.3(CHD7):c.3379-2A>C http://identifiers.org/clinvar/219545 ^@ NM_017780.3(CHD7):c.3835G>A (p.Asp1279Asn) http://identifiers.org/clinvar/220281 ^@ NM_017780.3(CHD7):c.4915delG (p.Val1639Terfs) http://identifiers.org/clinvar/219911 ^@ NM_004820.4(CYP7B1):c.1220T>C (p.Phe407Ser) http://identifiers.org/clinvar/219912 ^@ NM_004820.4(CYP7B1):c.334C>T (p.Arg112Ter) http://identifiers.org/clinvar/220699 ^@ NM_004820.4(CYP7B1):c.204G>A (p.Arg68=) http://identifiers.org/clinvar/219384 ^@ NM_004820.4(CYP7B1):c.59C>T (p.Pro20Leu) http://identifiers.org/clinvar/220379 ^@ NM_018972.2(GDAP1):c.579+1G>A http://identifiers.org/clinvar/220260 ^@ NM_002485.4(NBN):c.2246A>T (p.Tyr749Phe) http://identifiers.org/clinvar/219491 ^@ NM_002485.4(NBN):c.2184+7A>G http://identifiers.org/clinvar/219765 ^@ NM_002485.4(NBN):c.2155_2157dupCTA (p.Leu719_Glu720insLeu) http://identifiers.org/clinvar/219601 ^@ NM_002485.4(NBN):c.2071-4A>G http://identifiers.org/clinvar/219546 ^@ NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) http://identifiers.org/clinvar/220509 ^@ NM_002485.4(NBN):c.2037T>C (p.Tyr679=) http://identifiers.org/clinvar/220517 ^@ NM_002485.4(NBN):c.1825C>A (p.Pro609Thr) http://identifiers.org/clinvar/219584 ^@ NM_002485.4(NBN):c.1789A>G (p.Ile597Val) http://identifiers.org/clinvar/219533 ^@ NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) http://identifiers.org/clinvar/219993 ^@ NM_002485.4(NBN):c.1419_1431dupAGAAATGTCTTCA (p.Cys478Argfs) http://identifiers.org/clinvar/219677 ^@ NM_002485.4(NBN):c.1306T>C (p.Leu436=) http://identifiers.org/clinvar/219515 ^@ NM_002485.4(NBN):c.1242T>C (p.Asn414=) http://identifiers.org/clinvar/219698 ^@ NM_002485.4(NBN):c.1202C>A (p.Pro401His) http://identifiers.org/clinvar/219501 ^@ NM_002485.4(NBN):c.1133G>C (p.Ser378Thr) http://identifiers.org/clinvar/220295 ^@ NM_002485.4(NBN):c.1124+9T>G http://identifiers.org/clinvar/220356 ^@ NM_002485.4(NBN):c.1057A>C (p.Met353Leu) http://identifiers.org/clinvar/219418 ^@ NM_002485.4(NBN):c.1020A>G (p.Pro340=) http://identifiers.org/clinvar/219440 ^@ NM_002485.4(NBN):c.897-2A>T http://identifiers.org/clinvar/219488 ^@ NM_002485.4(NBN):c.836A>C (p.Gln279Pro) http://identifiers.org/clinvar/219906 ^@ NM_002485.4(NBN):c.827C>G (p.Thr276Arg) http://identifiers.org/clinvar/220473 ^@ NM_002485.4(NBN):c.794C>T (p.Ala265Val) http://identifiers.org/clinvar/220608 ^@ NM_002485.4(NBN):c.702+7A>G http://identifiers.org/clinvar/219786 ^@ NM_002485.4(NBN):c.585-3C>T http://identifiers.org/clinvar/220554 ^@ NM_002485.4(NBN):c.536A>T (p.Glu179Val) http://identifiers.org/clinvar/219848 ^@ NM_002485.4(NBN):c.471T>C (p.Val157=) http://identifiers.org/clinvar/219644 ^@ NM_002485.4(NBN):c.340G>T (p.Val114Phe) http://identifiers.org/clinvar/219877 ^@ NM_002485.4(NBN):c.321-3C>T http://identifiers.org/clinvar/221045 ^@ NM_002485.4(NBN):c.266G>A (p.Arg89Gln) http://identifiers.org/clinvar/220399 ^@ NM_002485.4(NBN):c.115delC (p.Gln39Serfs) http://identifiers.org/clinvar/219789 ^@ NM_002485.4(NBN):c.93_94delTG (p.Ala32Hisfs) http://identifiers.org/clinvar/221042 ^@ NM_002485.4(NBN):c.47A>C (p.Tyr16Ser) http://identifiers.org/clinvar/219997 ^@ NM_153704.5(TMEM67):c.517T>C (p.Cys173Arg) http://identifiers.org/clinvar/219998 ^@ NM_153704.5(TMEM67):c.934T>C (p.Ser312Pro) http://identifiers.org/clinvar/219667 ^@ NM_000136.2(FANCC):c.997-?_1154+?del http://identifiers.org/clinvar/220405 ^@ NM_014425.4(INVS):c.1945G>A (p.Val649Met) http://identifiers.org/clinvar/220826 ^@ NM_000118.3(ENG):c.640_643delGGCC (p.Gly214Thrfs) http://identifiers.org/clinvar/220765 ^@ NM_000368.4(TSC1):c.1794C>T (p.Ser598=) http://identifiers.org/clinvar/220985 ^@ NM_000093.4(COL5A1):c.4717A>G (p.Ile1573Val) http://identifiers.org/clinvar/220737 ^@ NM_017617.4(NOTCH1):c.5175C>T (p.Thr1725=) http://identifiers.org/clinvar/220735 ^@ NM_017617.4(NOTCH1):c.4536C>T (p.Ala1512=) http://identifiers.org/clinvar/221044 ^@ NM_017617.4(NOTCH1):c.4067G>A (p.Arg1356His) http://identifiers.org/clinvar/221096 ^@ NM_017617.4(NOTCH1):c.3315G>T (p.Ala1105=) http://identifiers.org/clinvar/220792 ^@ NM_017617.4(NOTCH1):c.3294C>T (p.Ser1098=) http://identifiers.org/clinvar/221043 ^@ NM_017617.4(NOTCH1):c.3171+9G>A http://identifiers.org/clinvar/220988 ^@ NM_017617.4(NOTCH1):c.2691C>T (p.Ala897=) http://identifiers.org/clinvar/220987 ^@ NM_017617.4(NOTCH1):c.2664C>T (p.His888=) http://identifiers.org/clinvar/220907 ^@ NM_017617.4(NOTCH1):c.1635C>T (p.Asp545=) http://identifiers.org/clinvar/220829 ^@ NM_000077.4(CDKN2A):c.369T>C (p.His123=) http://identifiers.org/clinvar/219905 ^@ NM_000077.4(CDKN2A):c.361C>G (p.Leu121Val) http://identifiers.org/clinvar/220535 ^@ NM_000077.4(CDKN2A):c.210C>T (p.Pro70=) http://identifiers.org/clinvar/220562 ^@ NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) http://identifiers.org/clinvar/220864 ^@ NM_000077.4(CDKN2A):c.150+1104C>A http://identifiers.org/clinvar/220711 ^@ NM_000077.4(CDKN2A):c.148C>T (p.Gln50Ter) http://identifiers.org/clinvar/220249 ^@ NM_000077.4(CDKN2A):c.117C>A (p.Asn39Lys) http://identifiers.org/clinvar/220344 ^@ NM_000077.4(CDKN2A):c.59C>G (p.Ala20Gly) http://identifiers.org/clinvar/219815 ^@ NM_000077.4(CDKN2A):c.47T>G (p.Leu16Arg) http://identifiers.org/clinvar/220777 ^@ NM_000077.4(CDKN2A):c.17G>T (p.Gly6Val) http://identifiers.org/clinvar/221032 ^@ NM_000077.4(CDKN2A):c.-14C>T http://identifiers.org/clinvar/220825 ^@ NM_012144.3(DNAI1):c.177T>C (p.Asp59=) http://identifiers.org/clinvar/220955 ^@ NM_012144.3(DNAI1):c.862C>T (p.Arg288Trp) http://identifiers.org/clinvar/221037 ^@ NM_004629.1(FANCG):c.722C>T (p.Pro241Leu) http://identifiers.org/clinvar/220199 ^@ NM_000136.2(FANCC):c.1627_1628delTCinsAA (p.Ser543Lys) http://identifiers.org/clinvar/220016 ^@ NM_000136.2(FANCC):c.1603C>T (p.Arg535Cys) http://identifiers.org/clinvar/220912 ^@ NM_000136.2(FANCC):c.1594A>C (p.Arg532=) http://identifiers.org/clinvar/220138 ^@ NM_000136.2(FANCC):c.1513G>A (p.Ala505Thr) http://identifiers.org/clinvar/220345 ^@ NM_000136.2(FANCC):c.1494T>C (p.Ala498=) http://identifiers.org/clinvar/219721 ^@ NM_000136.2(FANCC):c.1330-8T>C http://identifiers.org/clinvar/220432 ^@ NM_000136.2(FANCC):c.1300G>A (p.Asp434Asn) http://identifiers.org/clinvar/220495 ^@ NM_000136.2(FANCC):c.1290C>T (p.Tyr430=) http://identifiers.org/clinvar/219717 ^@ NM_000136.2(FANCC):c.1290C>A (p.Tyr430Ter) http://identifiers.org/clinvar/220410 ^@ NM_000136.2(FANCC):c.1256C>G (p.Pro419Arg) http://identifiers.org/clinvar/220210 ^@ NM_000136.2(FANCC):c.1162G>A (p.Gly388Arg) http://identifiers.org/clinvar/219624 ^@ NM_000136.2(FANCC):c.1081C>T (p.Arg361Trp) http://identifiers.org/clinvar/219639 ^@ NM_000136.2(FANCC):c.998T>C (p.Leu333Pro) http://identifiers.org/clinvar/220261 ^@ NM_000136.2(FANCC):c.993G>A (p.Lys331=) http://identifiers.org/clinvar/220360 ^@ NM_000136.2(FANCC):c.992A>G (p.Lys331Arg) http://identifiers.org/clinvar/219731 ^@ NM_000136.2(FANCC):c.924C>G (p.Ala308=) http://identifiers.org/clinvar/220578 ^@ NM_000136.2(FANCC):c.915C>T (p.Thr305=) http://identifiers.org/clinvar/219684 ^@ NM_000136.2(FANCC):c.875G>A (p.Arg292Gln) http://identifiers.org/clinvar/219407 ^@ NM_000136.2(FANCC):c.844-10_844-8delCCT http://identifiers.org/clinvar/220920 ^@ NM_000136.2(FANCC):c.843+4C>T http://identifiers.org/clinvar/219885 ^@ NM_000136.2(FANCC):c.823T>C (p.Phe275Leu) http://identifiers.org/clinvar/220568 ^@ NM_000136.2(FANCC):c.790A>G (p.Ser264Gly) http://identifiers.org/clinvar/219908 ^@ NM_000136.2(FANCC):c.733C>T (p.Arg245Trp) http://identifiers.org/clinvar/220447 ^@ NM_000136.2(FANCC):c.687G>A (p.Leu229=) http://identifiers.org/clinvar/220497 ^@ NM_000136.2(FANCC):c.679A>G (p.Ile227Val) http://identifiers.org/clinvar/219714 ^@ NM_000136.2(FANCC):c.609C>T (p.Leu203=) http://identifiers.org/clinvar/220308 ^@ NM_000136.2(FANCC):c.438T>C (p.Tyr146=) http://identifiers.org/clinvar/220563 ^@ NM_000136.2(FANCC):c.424C>G (p.Pro142Ala) http://identifiers.org/clinvar/221160 ^@ NM_000136.2(FANCC):c.399T>G (p.Leu133=) http://identifiers.org/clinvar/220022 ^@ NM_000136.2(FANCC):c.288T>C (p.Cys96=) http://identifiers.org/clinvar/220742 ^@ NM_000136.2(FANCC):c.248A>G (p.Tyr83Cys) http://identifiers.org/clinvar/219736 ^@ NM_000136.2(FANCC):c.202G>C (p.Gly68Arg) http://identifiers.org/clinvar/219433 ^@ NM_000136.2(FANCC):c.166-7T>C http://identifiers.org/clinvar/219747 ^@ NM_000136.2(FANCC):c.109C>G (p.His37Asp) http://identifiers.org/clinvar/219456 ^@ NM_000264.3(PTCH1):c.4328G>T (p.Gly1443Val) http://identifiers.org/clinvar/220426 ^@ NM_000264.3(PTCH1):c.4313A>G (p.Glu1438Gly) http://identifiers.org/clinvar/219394 ^@ NM_000264.3(PTCH1):c.4258T>C (p.Cys1420Arg) http://identifiers.org/clinvar/219882 ^@ NM_000264.3(PTCH1):c.4252G>A (p.Val1418Ile) http://identifiers.org/clinvar/220320 ^@ NM_000264.3(PTCH1):c.4218C>T (p.His1406=) http://identifiers.org/clinvar/220242 ^@ NM_000264.3(PTCH1):c.4137C>T (p.Val1379=) http://identifiers.org/clinvar/219907 ^@ NM_000264.3(PTCH1):c.4116G>T (p.Thr1372=) http://identifiers.org/clinvar/220534 ^@ NM_000264.3(PTCH1):c.4095C>T (p.Cys1365=) http://identifiers.org/clinvar/220282 ^@ NM_000264.3(PTCH1):c.4063A>G (p.Thr1355Ala) http://identifiers.org/clinvar/220391 ^@ NM_000264.3(PTCH1):c.4043A>G (p.Asn1348Ser) http://identifiers.org/clinvar/219471 ^@ NM_000264.3(PTCH1):c.4014_4034del21 (p.Trp1339_Arg1345del) http://identifiers.org/clinvar/220343 ^@ NM_000264.3(PTCH1):c.3917C>A (p.Pro1306His) http://identifiers.org/clinvar/219817 ^@ NM_000264.3(PTCH1):c.3752C>A (p.Ala1251Asp) http://identifiers.org/clinvar/219738 ^@ NM_000264.3(PTCH1):c.3739G>A (p.Ala1247Thr) http://identifiers.org/clinvar/219622 ^@ NM_000264.3(PTCH1):c.3642G>A (p.Thr1214=) http://identifiers.org/clinvar/220207 ^@ NM_000264.3(PTCH1):c.3634G>A (p.Gly1212Ser) http://identifiers.org/clinvar/220525 ^@ NM_000264.3(PTCH1):c.3631C>T (p.Pro1211Ser) http://identifiers.org/clinvar/221099 ^@ NM_000264.3(PTCH1):c.3606C>T (p.Pro1202=) http://identifiers.org/clinvar/220033 ^@ NM_000264.3(PTCH1):c.3575G>T (p.Arg1192Leu) http://identifiers.org/clinvar/219409 ^@ NM_000264.3(PTCH1):c.3573C>T (p.Asn1191=) http://identifiers.org/clinvar/220553 ^@ NM_000264.3(PTCH1):c.3567C>T (p.Gly1189=) http://identifiers.org/clinvar/220653 ^@ NM_000264.3(PTCH1):c.3564C>T (p.Asn1188=) http://identifiers.org/clinvar/219568 ^@ NM_000264.3(PTCH1):c.3527C>G (p.Ser1176Cys) http://identifiers.org/clinvar/219498 ^@ NM_000264.3(PTCH1):c.3488G>T (p.Gly1163Val) http://identifiers.org/clinvar/220370 ^@ NM_000264.3(PTCH1):c.3442A>G (p.Ile1148Val) http://identifiers.org/clinvar/220131 ^@ NM_000264.3(PTCH1):c.3372A>T (p.Ala1124=) http://identifiers.org/clinvar/220503 ^@ NM_000264.3(PTCH1):c.3338G>A (p.Arg1113His) http://identifiers.org/clinvar/219475 ^@ NM_000264.3(PTCH1):c.3317C>T (p.Thr1106Met) http://identifiers.org/clinvar/220012 ^@ NM_000264.3(PTCH1):c.3169-5T>C http://identifiers.org/clinvar/220385 ^@ NM_000264.3(PTCH1):c.3150C>T (p.Pro1050=) http://identifiers.org/clinvar/221158 ^@ NM_000264.3(PTCH1):c.3124G>A (p.Val1042Met) http://identifiers.org/clinvar/219683 ^@ NM_000264.3(PTCH1):c.3100G>A (p.Val1034Met) http://identifiers.org/clinvar/220559 ^@ NM_000264.3(PTCH1):c.3074G>A (p.Arg1025His) http://identifiers.org/clinvar/220652 ^@ NM_000264.3(PTCH1):c.3010C>G (p.Leu1004Val) http://identifiers.org/clinvar/220451 ^@ NM_000264.3(PTCH1):c.2937C>T (p.Asn979=) http://identifiers.org/clinvar/220439 ^@ NM_000264.3(PTCH1):c.2913T>C (p.Tyr971=) http://identifiers.org/clinvar/219438 ^@ NM_000264.3(PTCH1):c.2713C>A (p.Gln905Lys) http://identifiers.org/clinvar/219782 ^@ NM_000264.3(PTCH1):c.2704-4G>A http://identifiers.org/clinvar/220717 ^@ NM_000264.3(PTCH1):c.2671G>A (p.Gly891Ser) http://identifiers.org/clinvar/219901 ^@ NM_000264.3(PTCH1):c.2634C>T (p.Asp878=) http://identifiers.org/clinvar/220314 ^@ NM_000264.3(PTCH1):c.2610A>C (p.Pro870=) http://identifiers.org/clinvar/219974 ^@ NM_000264.3(PTCH1):c.2506G>A (p.Glu836Lys) http://identifiers.org/clinvar/221048 ^@ NM_000264.3(PTCH1):c.2469C>T (p.His823=) http://identifiers.org/clinvar/219887 ^@ NM_000264.3(PTCH1):c.2215_2216delCAinsTT (p.His739Phe) http://identifiers.org/clinvar/220182 ^@ NM_000264.3(PTCH1):c.1913G>A (p.Arg638His) http://identifiers.org/clinvar/221098 ^@ NM_000264.3(PTCH1):c.1854C>T (p.Cys618=) http://identifiers.org/clinvar/220369 ^@ NM_000264.3(PTCH1):c.1734G>A (p.Ala578=) http://identifiers.org/clinvar/219773 ^@ NM_000264.3(PTCH1):c.1728+8T>G http://identifiers.org/clinvar/220688 ^@ NM_000264.3(PTCH1):c.1716G>A (p.Ala572=) http://identifiers.org/clinvar/220341 ^@ NM_000264.3(PTCH1):c.1664A>G (p.Asn555Ser) http://identifiers.org/clinvar/219620 ^@ NM_000264.3(PTCH1):c.1629C>G (p.Arg543=) http://identifiers.org/clinvar/219879 ^@ NM_000264.3(PTCH1):c.1503+1G>C http://identifiers.org/clinvar/220126 ^@ NM_000264.3(PTCH1):c.1348-4G>A http://identifiers.org/clinvar/220079 ^@ NM_000264.3(PTCH1):c.1329delC (p.Ser444Alafs) http://identifiers.org/clinvar/220376 ^@ NM_000264.3(PTCH1):c.1119C>T (p.Tyr373=) http://identifiers.org/clinvar/220375 ^@ NM_000264.3(PTCH1):c.1074T>C (p.His358=) http://identifiers.org/clinvar/219509 ^@ NM_000264.3(PTCH1):c.869G>A (p.Gly290Asp) http://identifiers.org/clinvar/219707 ^@ NM_000264.3(PTCH1):c.727T>C (p.Ser243Pro) http://identifiers.org/clinvar/220471 ^@ NM_000264.3(PTCH1):c.624G>A (p.Glu208=) http://identifiers.org/clinvar/219468 ^@ NM_000264.3(PTCH1):c.531_533delACA (p.Gln177del) http://identifiers.org/clinvar/219807 ^@ NM_000264.3(PTCH1):c.420A>G (p.Leu140=) http://identifiers.org/clinvar/219834 ^@ NM_000264.3(PTCH1):c.404G>A (p.Arg135Gln) http://identifiers.org/clinvar/220567 ^@ NM_000264.3(PTCH1):c.270_304del35 (p.Tyr93Glyfs) http://identifiers.org/clinvar/220540 ^@ NM_000264.3(PTCH1):c.293G>A (p.Cys98Tyr) http://identifiers.org/clinvar/219697 ^@ NM_000264.3(PTCH1):c.258_259delCT (p.Leu87Ilefs) http://identifiers.org/clinvar/220331 ^@ NM_000264.3(PTCH1):c.202-6C>T http://identifiers.org/clinvar/220411 ^@ NM_000264.3(PTCH1):c.113G>C (p.Gly38Ala) http://identifiers.org/clinvar/221148 ^@ NM_000264.3(PTCH1):c.14G>C (p.Gly5Ala) http://identifiers.org/clinvar/219940 ^@ NM_000264.3(PTCH1):c.-15_-4delGGCGGCGGCGGC http://identifiers.org/clinvar/220845 ^@ NM_024642.4(GALNT12):c.566A>G (p.Asn189Ser) http://identifiers.org/clinvar/220637 ^@ NM_024642.4(GALNT12):c.776T>C (p.Val259Ala) http://identifiers.org/clinvar/220673 ^@ NM_024642.4(GALNT12):c.1392C>G (p.Pro464=) http://identifiers.org/clinvar/221077 ^@ NM_024642.4(GALNT12):c.1497C>T (p.Asn499=) http://identifiers.org/clinvar/220884 ^@ NM_001134363.2(RBM20):c.1988G>A (p.Gly663Asp) http://identifiers.org/clinvar/221067 ^@ NM_001134363.2(RBM20):c.3573+10C>T http://identifiers.org/clinvar/220874 ^@ NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) http://identifiers.org/clinvar/220969 ^@ NM_004281.3(BAG3):c.1586C>G (p.Ala529Gly) http://identifiers.org/clinvar/220377 ^@ NM_201590.2(CACNB2):c.52-6C>T http://identifiers.org/clinvar/220981 ^@ NM_006393.2(NEBL):c.1978C>A (p.Gln660Lys) http://identifiers.org/clinvar/221004 ^@ NM_018076.4(ARMC4):c.2342G>T (p.Gly781Val) http://identifiers.org/clinvar/220665 ^@ NM_020975.4(RET):c.159C>T (p.Val53=) http://identifiers.org/clinvar/220056 ^@ NM_020975.4(RET):c.517T>C (p.Ser173Pro) http://identifiers.org/clinvar/220254 ^@ NM_020975.4(RET):c.654G>A (p.Pro218=) http://identifiers.org/clinvar/220524 ^@ NM_020975.4(RET):c.682G>C (p.Ala228Pro) http://identifiers.org/clinvar/220298 ^@ NM_020975.4(RET):c.819C>T (p.Pro273=) http://identifiers.org/clinvar/220205 ^@ NM_020975.4(RET):c.832A>G (p.Thr278Ala) http://identifiers.org/clinvar/220722 ^@ NM_020975.4(RET):c.868-18G>A http://identifiers.org/clinvar/219685 ^@ NM_020975.4(RET):c.951G>A (p.Thr317=) http://identifiers.org/clinvar/220952 ^@ NM_020975.4(RET):c.1017G>A (p.Ser339=) http://identifiers.org/clinvar/219791 ^@ NM_020975.4(RET):c.1052T>A (p.Val351Glu) http://identifiers.org/clinvar/220068 ^@ NM_020975.4(RET):c.1064-6C>T http://identifiers.org/clinvar/220574 ^@ NM_020975.4(RET):c.1124T>A (p.Leu375Gln) http://identifiers.org/clinvar/220164 ^@ NM_020975.4(RET):c.1223A>T (p.Tyr408Phe) http://identifiers.org/clinvar/219872 ^@ NM_020975.4(RET):c.1253G>A (p.Arg418Gln) http://identifiers.org/clinvar/219396 ^@ NM_020975.4(RET):c.1253G>C (p.Arg418Pro) http://identifiers.org/clinvar/220306 ^@ NM_020975.4(RET):c.1264-5C>G http://identifiers.org/clinvar/219479 ^@ NM_020975.4(RET):c.1404T>C (p.Asn468=) http://identifiers.org/clinvar/219959 ^@ NM_020975.4(RET):c.1530C>T (p.Ala510=) http://identifiers.org/clinvar/220113 ^@ NM_020975.4(RET):c.1678C>T (p.Pro560Ser) http://identifiers.org/clinvar/220149 ^@ NM_020975.4(RET):c.1904G>A (p.Arg635His) http://identifiers.org/clinvar/220384 ^@ NM_020975.4(RET):c.1943T>C (p.Val648Ala) http://identifiers.org/clinvar/219590 ^@ NM_020630.4(RET):c.2136+9_2136+29del21 http://identifiers.org/clinvar/219390 ^@ NM_020975.4(RET):c.2137-10T>C http://identifiers.org/clinvar/220507 ^@ NM_020975.4(RET):c.2226G>A (p.Thr742=) http://identifiers.org/clinvar/220330 ^@ NM_020975.4(RET):c.2246G>C (p.Arg749Thr) http://identifiers.org/clinvar/220577 ^@ NM_020975.4(RET):c.2284+54C>A http://identifiers.org/clinvar/220687 ^@ NM_020975.4(RET):c.2298G>A (p.Pro766=) http://identifiers.org/clinvar/219833 ^@ NM_020975.4(RET):c.2393-9C>T http://identifiers.org/clinvar/220530 ^@ NM_020975.4(RET):c.2477A>C (p.Tyr826Ser) http://identifiers.org/clinvar/220266 ^@ NM_020975.4(RET):c.2544G>A (p.Met848Ile) http://identifiers.org/clinvar/220085 ^@ NM_020975.4(RET):c.2547C>T (p.Gly849=) http://identifiers.org/clinvar/219889 ^@ NM_020975.4(RET):c.2730+5C>T http://identifiers.org/clinvar/220609 ^@ NM_020975.4(RET):c.2887C>A (p.Leu963Ile) http://identifiers.org/clinvar/220521 ^@ NM_020975.4(RET):c.3206G>C (p.Trp1069Ser) http://identifiers.org/clinvar/220347 ^@ NM_020975.4(RET):c.3265A>C (p.Arg1089=) http://identifiers.org/clinvar/220623 ^@ NM_020975.4(RET):c.3279T>C (p.Asp1093=) http://identifiers.org/clinvar/220801 ^@ NM_006258.3(PRKG1):c.408G>A (p.Pro136=) http://identifiers.org/clinvar/219918 ^@ NM_000399.4(EGR2):c.1352G>T (p.Gly451Val) http://identifiers.org/clinvar/219844 ^@ NM_000399.4(EGR2):c.1226G>A (p.Arg409Gln) http://identifiers.org/clinvar/220977 ^@ NM_013266.3(CTNNA3):c.1303A>G (p.Met435Val) http://identifiers.org/clinvar/220976 ^@ NM_013266.3(CTNNA3):c.1231A>G (p.Ile411Val) http://identifiers.org/clinvar/220770 ^@ NM_013266.3(CTNNA3):c.348A>C (p.Pro116=) http://identifiers.org/clinvar/220980 ^@ NM_032578.3(MYPN):c.3017T>G (p.Ile1006Ser) http://identifiers.org/clinvar/220771 ^@ NM_032578.3(MYPN):c.3075+5_3075+13delAGACGCAGG http://identifiers.org/clinvar/220588 ^@ NM_004329.2(BMPR1A):c.33G>A (p.Leu11=) http://identifiers.org/clinvar/220321 ^@ NM_004329.2(BMPR1A):c.59G>A (p.Arg20His) http://identifiers.org/clinvar/219851 ^@ NM_004329.2(BMPR1A):c.230+7A>G http://identifiers.org/clinvar/220496 ^@ NM_004329.2(BMPR1A):c.377G>T (p.Arg126Leu) http://identifiers.org/clinvar/219715 ^@ NM_004329.2(BMPR1A):c.563G>A (p.Arg188His) http://identifiers.org/clinvar/220316 ^@ NM_004329.2(BMPR1A):c.583C>A (p.Gln195Lys) http://identifiers.org/clinvar/220618 ^@ NM_004329.2(BMPR1A):c.1044A>G (p.Glu348=) http://identifiers.org/clinvar/220527 ^@ NM_004329.2(BMPR1A):c.1141C>G (p.Leu381Val) http://identifiers.org/clinvar/219412 ^@ NM_004329.2(BMPR1A):c.1323_1325delTCG (p.Arg443del) http://identifiers.org/clinvar/220263 ^@ NM_004329.2(BMPR1A):c.1368A>G (p.Pro456=) http://identifiers.org/clinvar/221156 ^@ NM_004329.2(BMPR1A):c.1474-10T>C http://identifiers.org/clinvar/219600 ^@ NM_004329.2(BMPR1A):c.1587T>A (p.Asp529Glu) http://identifiers.org/clinvar/220007 ^@ NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) http://identifiers.org/clinvar/220275 ^@ NM_000314.6(PTEN):c.845delG (p.Gly282Aspfs) http://identifiers.org/clinvar/219453 ^@ NM_000314.6(PTEN):c.876T>C (p.Asn292=) http://identifiers.org/clinvar/220115 ^@ NM_000314.6(PTEN):c.987_996dupTAAAGACAAA (p.Ala333Terfs) http://identifiers.org/clinvar/220596 ^@ NM_000314.6(PTEN):c.1075G>T (p.Ala359Ser) http://identifiers.org/clinvar/220902 ^@ NM_000314.6(PTEN):c.1089T>C (p.Thr363=) http://identifiers.org/clinvar/220394 ^@ NM_001002261.3(ZFYVE27):c.62C>T (p.Ala21Val) http://identifiers.org/clinvar/220299 ^@ NM_000051.3(ATM):c.(?_-1)_4109+?dup http://identifiers.org/clinvar/219910 ^@ NM_000051.3(ATM):c.3403-?_*(1_?)del http://identifiers.org/clinvar/219725 ^@ NM_000256.3(MYBPC3):c.1091-?_2308+?del http://identifiers.org/clinvar/220042 ^@ NM_001080463.1(DYNC2H1):c.1757T>G (p.Val586Gly) http://identifiers.org/clinvar/220458 ^@ NM_001080463.1(DYNC2H1):c.1944G>A (p.Gln648=) http://identifiers.org/clinvar/220043 ^@ NM_001080463.1(DYNC2H1):c.2702+1G>A http://identifiers.org/clinvar/220459 ^@ NM_001080463.1(DYNC2H1):c.3665G>A (p.Gly1222Glu) http://identifiers.org/clinvar/220052 ^@ NM_001080463.1(DYNC2H1):c.5442C>T (p.Pro1814=) http://identifiers.org/clinvar/220053 ^@ NM_001080463.1(DYNC2H1):c.7198A>G (p.Ile2400Val) http://identifiers.org/clinvar/219478 ^@ NM_001080463.1(DYNC2H1):c.9841-2A>G http://identifiers.org/clinvar/220403 ^@ NM_001080463.1(DYNC2H1):c.10855G>C (p.Asp3619His) http://identifiers.org/clinvar/220090 ^@ NM_001080463.1(DYNC2H1):c.10885C>A (p.Arg3629=) http://identifiers.org/clinvar/220631 ^@ NM_000051.3(ATM):c.138T>C (p.His46=) http://identifiers.org/clinvar/220177 ^@ NM_000051.3(ATM):c.185+1G>A http://identifiers.org/clinvar/220412 ^@ NM_000051.3(ATM):c.221G>A (p.Cys74Tyr) http://identifiers.org/clinvar/221134 ^@ NM_000051.3(ATM):c.280A>G (p.Met94Val) http://identifiers.org/clinvar/220396 ^@ NM_000051.3(ATM):c.319T>C (p.Cys107Arg) http://identifiers.org/clinvar/221086 ^@ NM_000051.3(ATM):c.483G>C (p.Gln161His) http://identifiers.org/clinvar/220323 ^@ NM_000051.3(ATM):c.662+8_662+12delAATCT http://identifiers.org/clinvar/220692 ^@ NM_000051.3(ATM):c.702A>G (p.Ala234=) http://identifiers.org/clinvar/219578 ^@ NM_000051.3(ATM):c.785T>A (p.Leu262Ter) http://identifiers.org/clinvar/220121 ^@ NM_000051.3(ATM):c.824delT (p.Leu275Terfs) http://identifiers.org/clinvar/220613 ^@ NM_000051.3(ATM):c.854T>G (p.Leu285Arg) http://identifiers.org/clinvar/219398 ^@ NM_000051.3(ATM):c.879A>G (p.Lys293=) http://identifiers.org/clinvar/220453 ^@ NM_000051.3(ATM):c.946T>C (p.Tyr316His) http://identifiers.org/clinvar/220766 ^@ NM_000051.3(ATM):c.1147C>T (p.Pro383Ser) http://identifiers.org/clinvar/220493 ^@ NM_000051.3(ATM):c.1222G>A (p.Asp408Asn) http://identifiers.org/clinvar/219386 ^@ NM_000051.3(ATM):c.1271C>T (p.Pro424Leu) http://identifiers.org/clinvar/219999 ^@ NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) http://identifiers.org/clinvar/219530 ^@ NM_000051.3(ATM):c.1370G>T (p.Arg457Leu) http://identifiers.org/clinvar/220272 ^@ NM_000051.3(ATM):c.1511A>G (p.Asn504Ser) http://identifiers.org/clinvar/220450 ^@ NM_000051.3(ATM):c.1518C>T (p.Gly506=) http://identifiers.org/clinvar/219814 ^@ NM_000051.3(ATM):c.1579T>C (p.Phe527Leu) http://identifiers.org/clinvar/220170 ^@ NM_000051.3(ATM):c.1584T>C (p.Thr528=) http://identifiers.org/clinvar/220555 ^@ NM_000051.3(ATM):c.1607+1G>T http://identifiers.org/clinvar/219526 ^@ NM_000051.3(ATM):c.1641C>A (p.Thr547=) http://identifiers.org/clinvar/219864 ^@ NM_000051.3(ATM):c.1649T>G (p.Ile550Arg) http://identifiers.org/clinvar/219767 ^@ NM_000051.3(ATM):c.1688T>G (p.Met563Arg) http://identifiers.org/clinvar/220196 ^@ NM_000051.3(ATM):c.1914_1929dup16 (p.Ser644Argfs) http://identifiers.org/clinvar/221183 ^@ NM_000051.3(ATM):c.2052G>C (p.Gln684His) http://identifiers.org/clinvar/219803 ^@ NM_000051.3(ATM):c.2125A>G (p.Ile709Val) http://identifiers.org/clinvar/220354 ^@ NM_000051.3(ATM):c.2127T>G (p.Ile709Met) http://identifiers.org/clinvar/219884 ^@ NM_000051.3(ATM):c.2147T>G (p.Val716Gly) http://identifiers.org/clinvar/220365 ^@ NM_000051.3(ATM):c.2187C>T (p.Tyr729=) http://identifiers.org/clinvar/220612 ^@ NM_000051.3(ATM):c.2376+17_2376+19delCTT http://identifiers.org/clinvar/219746 ^@ NM_000051.3(ATM):c.2386A>T (p.Asn796Tyr) http://identifiers.org/clinvar/220178 ^@ NM_000051.3(ATM):c.2463T>G (p.Ser821Arg) http://identifiers.org/clinvar/219510 ^@ NM_000051.3(ATM):c.2541G>A (p.Met847Ile) http://identifiers.org/clinvar/220929 ^@ NM_000051.3(ATM):c.2736G>A (p.Gln912=) http://identifiers.org/clinvar/220615 ^@ NM_000051.3(ATM):c.2815A>G (p.Thr939Ala) http://identifiers.org/clinvar/219648 ^@ NM_000051.3(ATM):c.2831T>G (p.Leu944Arg) http://identifiers.org/clinvar/220494 ^@ NM_000051.3(ATM):c.2848C>T (p.Leu950Phe) http://identifiers.org/clinvar/221187 ^@ NM_000051.3(ATM):c.2879C>A (p.Pro960His) http://identifiers.org/clinvar/219567 ^@ NM_000051.3(ATM):c.2954A>T (p.Asp985Val) http://identifiers.org/clinvar/220335 ^@ NM_000051.3(ATM):c.2958T>G (p.Val986=) http://identifiers.org/clinvar/220080 ^@ NM_000051.3(ATM):c.3059C>T (p.Thr1020Ile) http://identifiers.org/clinvar/220036 ^@ NM_000051.3(ATM):c.3077+1G>A http://identifiers.org/clinvar/220572 ^@ NM_000051.3(ATM):c.3081T>A (p.His1027Gln) http://identifiers.org/clinvar/219744 ^@ NM_000051.3(ATM):c.3237T>C (p.Ala1079=) http://identifiers.org/clinvar/219508 ^@ NM_000051.3(ATM):c.3284+1G>A http://identifiers.org/clinvar/219829 ^@ NM_000051.3(ATM):c.3415G>A (p.Glu1139Lys) http://identifiers.org/clinvar/219452 ^@ NM_000051.3(ATM):c.3489C>T (p.Ser1163=) http://identifiers.org/clinvar/220538 ^@ NM_000051.3(ATM):c.3577-7C>T http://identifiers.org/clinvar/220809 ^@ NM_000051.3(ATM):c.3601T>A (p.Phe1201Ile) http://identifiers.org/clinvar/220120 ^@ NM_000051.3(ATM):c.3627T>C (p.Phe1209=) http://identifiers.org/clinvar/220358 ^@ NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) http://identifiers.org/clinvar/220775 ^@ NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) http://identifiers.org/clinvar/219517 ^@ NM_000051.3(ATM):c.3934A>G (p.Arg1312Gly) http://identifiers.org/clinvar/221142 ^@ NM_000051.3(ATM):c.3993G>C (p.Gln1331His) http://identifiers.org/clinvar/220483 ^@ NM_000051.3(ATM):c.3994-159A>G http://identifiers.org/clinvar/219675 ^@ NM_000051.3(ATM):c.4001A>G (p.His1334Arg) http://identifiers.org/clinvar/220998 ^@ NM_000051.3(ATM):c.4420C>A (p.His1474Asn) http://identifiers.org/clinvar/220328 ^@ NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) http://identifiers.org/clinvar/220188 ^@ NM_000051.3(ATM):c.4677T>A (p.Ile1559=) http://identifiers.org/clinvar/219580 ^@ NM_000051.3(ATM):c.4736dupA (p.Ile1581Asnfs) http://identifiers.org/clinvar/219873 ^@ NM_000051.3(ATM):c.4804_4805delGT (p.Val1602Leufs) http://identifiers.org/clinvar/220290 ^@ NM_000051.3(ATM):c.4820C>G (p.Pro1607Arg) http://identifiers.org/clinvar/220386 ^@ NM_000051.3(ATM):c.5002C>T (p.Leu1668=) http://identifiers.org/clinvar/220820 ^@ NM_000051.3(ATM):c.5015delG (p.Gly1672Glufs) http://identifiers.org/clinvar/220828 ^@ NM_000051.3(ATM):c.5124T>G (p.Leu1708=) http://identifiers.org/clinvar/219503 ^@ NM_000051.3(ATM):c.5300T>G (p.Phe1767Cys) http://identifiers.org/clinvar/221061 ^@ NM_000051.3(ATM):c.5320-10T>C http://identifiers.org/clinvar/220114 ^@ NM_000051.3(ATM):c.5320-6_5320-3delTTCT http://identifiers.org/clinvar/219484 ^@ NM_000051.3(ATM):c.5375T>C (p.Ile1792Thr) http://identifiers.org/clinvar/219462 ^@ NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) http://identifiers.org/clinvar/219506 ^@ NM_000051.3(ATM):c.5712A>G (p.Lys1904=) http://identifiers.org/clinvar/219891 ^@ NM_000051.3(ATM):c.5856T>C (p.Phe1952=) http://identifiers.org/clinvar/219542 ^@ NM_000051.3(ATM):c.5887G>A (p.Asp1963Asn) http://identifiers.org/clinvar/219883 ^@ NM_000051.3(ATM):c.6053T>C (p.Leu2018Ser) http://identifiers.org/clinvar/219787 ^@ NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) http://identifiers.org/clinvar/219654 ^@ NM_000051.3(ATM):c.6198+5A>G http://identifiers.org/clinvar/221060 ^@ NM_000051.3(ATM):c.6318T>C (p.Asn2106=) http://identifiers.org/clinvar/220071 ^@ NM_000051.3(ATM):c.6348-2A>G http://identifiers.org/clinvar/220763 ^@ NM_000051.3(ATM):c.6404_6405insTT (p.Arg2136Terfs) http://identifiers.org/clinvar/219904 ^@ NM_000051.3(ATM):c.6452+5T>A http://identifiers.org/clinvar/220531 ^@ NM_000051.3(ATM):c.6503C>T (p.Ser2168Leu) http://identifiers.org/clinvar/219963 ^@ NM_000051.3(ATM):c.6650_6657delTTAGTTTT (p.Phe2217Serfs) http://identifiers.org/clinvar/220592 ^@ NM_000051.3(ATM):c.6966C>T (p.Ser2322=) http://identifiers.org/clinvar/220607 ^@ NM_000051.3(ATM):c.6975+13dupT http://identifiers.org/clinvar/221114 ^@ NM_000051.3(ATM):c.6975+13delT http://identifiers.org/clinvar/220198 ^@ NM_000051.3(ATM):c.7010_7011delGT (p.Cys2337Serfs) http://identifiers.org/clinvar/220756 ^@ NM_000051.3(ATM):c.7036G>A (p.Ala2346Thr) http://identifiers.org/clinvar/220312 ^@ NM_000051.3(ATM):c.7269A>T (p.Glu2423Asp) http://identifiers.org/clinvar/220522 ^@ NM_000051.3(ATM):c.7291A>G (p.Lys2431Glu) http://identifiers.org/clinvar/220378 ^@ NM_000051.3(ATM):c.7566A>G (p.Gln2522=) http://identifiers.org/clinvar/220893 ^@ NM_000051.3(ATM):c.7598G>A (p.Gly2533Glu) http://identifiers.org/clinvar/220518 ^@ NM_000051.3(ATM):c.7658C>A (p.Pro2553His) http://identifiers.org/clinvar/220072 ^@ NM_000051.3(ATM):c.7658C>T (p.Pro2553Leu) http://identifiers.org/clinvar/220550 ^@ NM_000051.3(ATM):c.7705_7706delGA (p.Asp2569Terfs) http://identifiers.org/clinvar/220244 ^@ NM_000051.3(ATM):c.7770A>G (p.Gln2590=) http://identifiers.org/clinvar/219629 ^@ NM_000051.3(ATM):c.7789-3T>G http://identifiers.org/clinvar/220064 ^@ NM_000051.3(ATM):c.7880A>G (p.Tyr2627Cys) http://identifiers.org/clinvar/220528 ^@ NM_000051.3(ATM):c.7902T>G (p.Asp2634Glu) http://identifiers.org/clinvar/220626 ^@ NM_000051.3(ATM):c.7928-2A>T http://identifiers.org/clinvar/219594 ^@ NM_000051.3(ATM):c.7996A>G (p.Thr2666Ala) http://identifiers.org/clinvar/220283 ^@ NM_000051.3(ATM):c.8100A>T (p.Lys2700Asn) http://identifiers.org/clinvar/220257 ^@ NM_000051.3(ATM):c.8120C>G (p.Ser2707Cys) http://identifiers.org/clinvar/220614 ^@ NM_000051.3(ATM):c.8393C>A (p.Ala2798Asp) http://identifiers.org/clinvar/219709 ^@ NM_000051.3(ATM):c.8427A>G (p.Gln2809=) http://identifiers.org/clinvar/220111 ^@ NM_000051.3(ATM):c.8450A>G (p.Tyr2817Cys) http://identifiers.org/clinvar/221124 ^@ NM_000051.3(ATM):c.8520G>C (p.Leu2840Phe) http://identifiers.org/clinvar/219596 ^@ NM_000051.3(ATM):c.8660A>C (p.His2887Pro) http://identifiers.org/clinvar/220610 ^@ NM_000051.3(ATM):c.8850+4A>G http://identifiers.org/clinvar/220831 ^@ NM_000051.3(ATM):c.8873_8874delTT (p.Phe2958Terfs) http://identifiers.org/clinvar/219587 ^@ NM_000051.3(ATM):c.8988-1G>A http://identifiers.org/clinvar/220664 ^@ NM_000051.3(ATM):c.9060G>T (p.Val3020=) http://identifiers.org/clinvar/221021 ^@ NM_000890.3(KCNJ5):c.667G>A (p.Asp223Asn) http://identifiers.org/clinvar/219547 ^@ NM_000890.3(KCNJ5):c.825C>A (p.Ile275=) http://identifiers.org/clinvar/219444 ^@ NM_003476.4(CSRP3):c.449G>A (p.Cys150Tyr) http://identifiers.org/clinvar/219473 ^@ NM_003476.4(CSRP3):c.15C>A (p.Gly5=) http://identifiers.org/clinvar/220309 ^@ NM_000218.2(KCNQ1):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/220083 ^@ NM_000218.2(KCNQ1):c.701A>G (p.Gln234Arg) http://identifiers.org/clinvar/219923 ^@ NM_000218.2(KCNQ1):c.1343C>A (p.Pro448Gln) http://identifiers.org/clinvar/220039 ^@ NM_000218.2(KCNQ1):c.1456G>C (p.Ala486Pro) http://identifiers.org/clinvar/220872 ^@ NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) http://identifiers.org/clinvar/219400 ^@ NM_000256.3(MYBPC3):c.2540A>C (p.Tyr847Ser) http://identifiers.org/clinvar/219403 ^@ NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) http://identifiers.org/clinvar/221024 ^@ NM_000256.3(MYBPC3):c.1020C>T (p.Tyr340=) http://identifiers.org/clinvar/219660 ^@ NM_000256.3(MYBPC3):c.906-36G>A http://identifiers.org/clinvar/219730 ^@ NM_000256.3(MYBPC3):c.162delG (p.Lys54Asnfs) http://identifiers.org/clinvar/220174 ^@ NM_032667.6(BSCL2):c.857G>A (p.Arg286Gln) http://identifiers.org/clinvar/220698 ^@ NM_032667.6(BSCL2):c.813+8G>T http://identifiers.org/clinvar/220211 ^@ NM_032667.6(BSCL2):c.449A>G (p.His150Arg) http://identifiers.org/clinvar/220467 ^@ NM_032667.6(BSCL2):c.396C>T (p.Cys132=) http://identifiers.org/clinvar/220647 ^@ NM_130799.2(MEN1):c.1739delC (p.Thr580Argfs) http://identifiers.org/clinvar/220599 ^@ NM_130799.2(MEN1):c.1578C>A (p.Ala526=) http://identifiers.org/clinvar/220721 ^@ NM_130799.2(MEN1):c.1443G>A (p.Arg481=) http://identifiers.org/clinvar/221159 ^@ NM_130799.2(MEN1):c.1299C>T (p.His433=) http://identifiers.org/clinvar/220643 ^@ NM_130799.2(MEN1):c.1213C>T (p.Gln405Ter) http://identifiers.org/clinvar/220268 ^@ NM_130799.2(MEN1):c.1166G>A (p.Arg389Gln) http://identifiers.org/clinvar/220084 ^@ NM_130799.2(MEN1):c.1157G>A (p.Gly386Asp) http://identifiers.org/clinvar/219447 ^@ NM_130799.2(MEN1):c.1080C>T (p.Ile360=) http://identifiers.org/clinvar/220116 ^@ NM_130799.2(MEN1):c.655-6C>A http://identifiers.org/clinvar/219831 ^@ NM_130799.2(MEN1):c.640G>A (p.Gly214Ser) http://identifiers.org/clinvar/219958 ^@ NM_130799.2(MEN1):c.621G>A (p.Arg207=) http://identifiers.org/clinvar/219603 ^@ NM_130799.2(MEN1):c.585G>A (p.Glu195=) http://identifiers.org/clinvar/219613 ^@ NM_130799.2(MEN1):c.513G>C (p.Arg171=) http://identifiers.org/clinvar/219669 ^@ NM_130799.2(MEN1):c.282C>T (p.Thr94=) http://identifiers.org/clinvar/219693 ^@ NM_130799.2(MEN1):c.-2C>T http://identifiers.org/clinvar/219663 ^@ NM_005591.3(MRE11):c.2113A>G (p.Arg705Gly) http://identifiers.org/clinvar/219630 ^@ NM_005591.3(MRE11):c.2053G>T (p.Asp685Tyr) http://identifiers.org/clinvar/220430 ^@ NM_005591.3(MRE11):c.1995-19_1995-8delTGTTTTTGTTTT http://identifiers.org/clinvar/221127 ^@ NM_005591.3(MRE11):c.1994+10G>A http://identifiers.org/clinvar/220226 ^@ NM_005591.3(MRE11):c.1918T>A (p.Tyr640Asn) http://identifiers.org/clinvar/219945 ^@ NM_005591.3(MRE11):c.1902T>C (p.Asn634=) http://identifiers.org/clinvar/220576 ^@ NM_005591.3(MRE11):c.1783+10G>C http://identifiers.org/clinvar/220059 ^@ NM_005591.3(MRE11):c.1783+7A>G http://identifiers.org/clinvar/219449 ^@ NM_005591.3(MRE11):c.1741G>A (p.Gly581Arg) http://identifiers.org/clinvar/220076 ^@ NM_005591.3(MRE11):c.1736G>A (p.Gly579Glu) http://identifiers.org/clinvar/220769 ^@ NM_005591.3(MRE11):c.1724G>A (p.Gly575Asp) http://identifiers.org/clinvar/221161 ^@ NM_005591.3(MRE11):c.1718G>T (p.Gly573Val) http://identifiers.org/clinvar/220146 ^@ NM_005591.3(MRE11):c.1687T>C (p.Ser563Pro) http://identifiers.org/clinvar/220556 ^@ NM_005591.3(MRE11):c.1508G>A (p.Arg503His) http://identifiers.org/clinvar/220551 ^@ NM_005591.3(MRE11):c.1338C>G (p.Leu446=) http://identifiers.org/clinvar/220421 ^@ NM_005591.3(MRE11):c.1226-12_1226-10delCTT http://identifiers.org/clinvar/219595 ^@ NM_005591.3(MRE11):c.1225+8A>T http://identifiers.org/clinvar/219926 ^@ NM_005591.3(MRE11):c.1129A>G (p.Ser377Gly) http://identifiers.org/clinvar/220877 ^@ NM_005591.3(MRE11):c.1046G>A (p.Arg349Gln) http://identifiers.org/clinvar/220327 ^@ NM_005591.3(MRE11):c.855T>C (p.Gly285=) http://identifiers.org/clinvar/220364 ^@ NM_005591.3(MRE11):c.761C>T (p.Thr254Ile) http://identifiers.org/clinvar/219920 ^@ NM_005591.3(MRE11):c.535T>C (p.Tyr179His) http://identifiers.org/clinvar/220311 ^@ NM_005591.3(MRE11):c.498G>A (p.Pro166=) http://identifiers.org/clinvar/220013 ^@ NM_005591.3(MRE11):c.475G>A (p.Val159Met) http://identifiers.org/clinvar/220181 ^@ NM_005591.3(MRE11):c.314+6T>C http://identifiers.org/clinvar/219553 ^@ NM_005591.3(MRE11):c.21-11_21-8delTCTT http://identifiers.org/clinvar/219937 ^@ NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) http://identifiers.org/clinvar/220725 ^@ NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) http://identifiers.org/clinvar/220381 ^@ NM_030962.3(SBF2):c.4465G>A (p.Glu1489Lys) http://identifiers.org/clinvar/219812 ^@ NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) http://identifiers.org/clinvar/220646 ^@ NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) http://identifiers.org/clinvar/220352 ^@ NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) http://identifiers.org/clinvar/220575 ^@ NM_030962.3(SBF2):c.1173A>G (p.Ala391=) http://identifiers.org/clinvar/219845 ^@ NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) http://identifiers.org/clinvar/220190 ^@ NM_021625.4(TRPV4):c.810G>A (p.Gly270=) http://identifiers.org/clinvar/220469 ^@ NM_021625.4(TRPV4):c.593C>G (p.Ala198Gly) http://identifiers.org/clinvar/220125 ^@ NM_001082538.2(TCTN1):c.890C>T (p.Thr297Met) http://identifiers.org/clinvar/219525 ^@ NM_000432.3(MYL2):c.403-4G>C http://identifiers.org/clinvar/220171 ^@ NM_002834.4(PTPN11):c.624A>G (p.Thr208=) http://identifiers.org/clinvar/221175 ^@ NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) http://identifiers.org/clinvar/220909 ^@ NM_006231.3(POLE):c.6714C>T (p.Cys2238=) http://identifiers.org/clinvar/220842 ^@ NM_006231.3(POLE):c.6675C>T (p.Arg2225=) http://identifiers.org/clinvar/220967 ^@ NM_006231.3(POLE):c.6658-7C>A http://identifiers.org/clinvar/220704 ^@ NM_006231.3(POLE):c.6563C>G (p.Ser2188Cys) http://identifiers.org/clinvar/220837 ^@ NM_006231.3(POLE):c.6494G>A (p.Arg2165His) http://identifiers.org/clinvar/221143 ^@ NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) http://identifiers.org/clinvar/220866 ^@ NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) http://identifiers.org/clinvar/220739 ^@ NM_006231.3(POLE):c.6004+5G>T http://identifiers.org/clinvar/221083 ^@ NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) http://identifiers.org/clinvar/221106 ^@ NM_006231.3(POLE):c.5678+4C>T http://identifiers.org/clinvar/221105 ^@ NM_006231.3(POLE):c.5570A>G (p.Lys1857Arg) http://identifiers.org/clinvar/221104 ^@ NM_006231.3(POLE):c.5135C>T (p.Ala1712Val) http://identifiers.org/clinvar/220635 ^@ NM_006231.3(POLE):c.4635C>T (p.Leu1545=) http://identifiers.org/clinvar/220758 ^@ NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) http://identifiers.org/clinvar/220928 ^@ NM_006231.3(POLE):c.3670_3671delGCinsTT (p.Ala1224Leu) http://identifiers.org/clinvar/220924 ^@ NM_006231.3(POLE):c.3582+5C>T http://identifiers.org/clinvar/220916 ^@ NM_006231.3(POLE):c.3046G>A (p.Val1016Met) http://identifiers.org/clinvar/221094 ^@ NM_006231.3(POLE):c.2706+5G>A http://identifiers.org/clinvar/220683 ^@ NM_006231.3(POLE):c.2561+6T>C http://identifiers.org/clinvar/221167 ^@ NM_006231.3(POLE):c.2550C>T (p.Ile850=) http://identifiers.org/clinvar/220755 ^@ NM_006231.3(POLE):c.2487G>A (p.Met829Ile) http://identifiers.org/clinvar/221103 ^@ NM_006231.3(POLE):c.2468+10C>T http://identifiers.org/clinvar/221153 ^@ NM_006231.3(POLE):c.2427G>A (p.Lys809=) http://identifiers.org/clinvar/220785 ^@ NM_006231.3(POLE):c.2174-8G>A http://identifiers.org/clinvar/220705 ^@ NM_006231.3(POLE):c.2089C>A (p.Pro697Thr) http://identifiers.org/clinvar/221179 ^@ NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) http://identifiers.org/clinvar/221157 ^@ NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) http://identifiers.org/clinvar/220802 ^@ NM_006231.3(POLE):c.1470C>T (p.Asp490=) http://identifiers.org/clinvar/221145 ^@ NM_006231.3(POLE):c.1359+9G>A http://identifiers.org/clinvar/221066 ^@ NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) http://identifiers.org/clinvar/221168 ^@ NM_006231.3(POLE):c.1307C>G (p.Pro436Arg) http://identifiers.org/clinvar/221000 ^@ NM_006231.3(POLE):c.861T>A (p.Asp287Glu) http://identifiers.org/clinvar/220642 ^@ NM_006231.3(POLE):c.779G>A (p.Arg260Gln) http://identifiers.org/clinvar/221085 ^@ NM_006231.3(POLE):c.776G>A (p.Arg259His) http://identifiers.org/clinvar/221119 ^@ NM_006231.3(POLE):c.724C>T (p.His242Tyr) http://identifiers.org/clinvar/221120 ^@ NM_006231.3(POLE):c.555C>T (p.Asp185=) http://identifiers.org/clinvar/220670 ^@ NM_006231.3(POLE):c.272G>A (p.Gly91Glu) http://identifiers.org/clinvar/220689 ^@ NM_006231.3(POLE):c.241G>A (p.Ala81Thr) http://identifiers.org/clinvar/221182 ^@ NM_006231.3(POLE):c.91G>T (p.Ala31Ser) http://identifiers.org/clinvar/221023 ^@ NM_004982.3(KCNJ8):c.855G>A (p.Leu285=) http://identifiers.org/clinvar/221022 ^@ NM_004982.3(KCNJ8):c.793T>C (p.Leu265=) http://identifiers.org/clinvar/220348 ^@ NM_000719.6(CACNA1C):c.3114G>C (p.Leu1038=) http://identifiers.org/clinvar/219519 ^@ NM_000719.6(CACNA1C):c.5217C>T (p.Asp1739=) http://identifiers.org/clinvar/219520 ^@ NM_000719.6(CACNA1C):c.5408G>A (p.Arg1803Gln) http://identifiers.org/clinvar/220944 ^@ NM_004572.3(PKP2):c.1419C>T (p.Gly473=) http://identifiers.org/clinvar/220953 ^@ NM_033124.4(CCDC65):c.1026+8_1026+9delAG http://identifiers.org/clinvar/220940 ^@ NM_000020.2(ACVRL1):c.626-59delG http://identifiers.org/clinvar/219607 ^@ NM_004984.2(KIF5A):c.129+9C>T http://identifiers.org/clinvar/219405 ^@ NM_004984.2(KIF5A):c.714+8G>A http://identifiers.org/clinvar/219549 ^@ NM_004984.2(KIF5A):c.2199-4G>A http://identifiers.org/clinvar/219965 ^@ NM_000075.3(CDK4):c.834T>C (p.Phe278=) http://identifiers.org/clinvar/219393 ^@ NM_000075.3(CDK4):c.771G>A (p.Val257=) http://identifiers.org/clinvar/220063 ^@ NM_000075.3(CDK4):c.752C>G (p.Pro251Arg) http://identifiers.org/clinvar/220677 ^@ NM_000075.3(CDK4):c.701C>T (p.Pro234Leu) http://identifiers.org/clinvar/220339 ^@ NM_000075.3(CDK4):c.689T>C (p.Ile230Thr) http://identifiers.org/clinvar/220383 ^@ NM_000075.3(CDK4):c.609C>A (p.Ile203=) http://identifiers.org/clinvar/220009 ^@ NM_000075.3(CDK4):c.561G>T (p.Leu187=) http://identifiers.org/clinvar/220499 ^@ NM_000075.3(CDK4):c.409G>C (p.Val137Leu) http://identifiers.org/clinvar/219858 ^@ NM_000075.3(CDK4):c.348G>A (p.Thr116=) http://identifiers.org/clinvar/219640 ^@ NM_000075.3(CDK4):c.245G>A (p.Arg82Gln) http://identifiers.org/clinvar/220050 ^@ NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT http://identifiers.org/clinvar/220215 ^@ NM_000059.3(BRCA2):c.7806-?_8331+?del http://identifiers.org/clinvar/219410 ^@ NM_000059.3(BRCA2):c.8633-?_9256+?del http://identifiers.org/clinvar/219687 ^@ NM_000059.3(BRCA2):c.30A>G (p.Thr10=) http://identifiers.org/clinvar/220440 ^@ NM_000059.3(BRCA2):c.67+16A>G http://identifiers.org/clinvar/220292 ^@ NM_000059.3(BRCA2):c.82A>G (p.Ser28Gly) http://identifiers.org/clinvar/220237 ^@ NM_000059.3(BRCA2):c.144delA (p.Glu49Asnfs) http://identifiers.org/clinvar/219849 ^@ NM_000059.3(BRCA2):c.296A>G (p.Asp99Gly) http://identifiers.org/clinvar/221003 ^@ NM_000059.3(BRCA2):c.426-17G>T http://identifiers.org/clinvar/219928 ^@ NM_000059.3(BRCA2):c.568C>G (p.Pro190Ala) http://identifiers.org/clinvar/219761 ^@ NM_000059.3(BRCA2):c.569C>T (p.Pro190Leu) http://identifiers.org/clinvar/219916 ^@ NM_000059.3(BRCA2):c.578C>T (p.Ser193Phe) http://identifiers.org/clinvar/219896 ^@ NM_000059.3(BRCA2):c.632-3C>G http://identifiers.org/clinvar/220004 ^@ NM_000059.3(BRCA2):c.633C>T (p.Val211=) http://identifiers.org/clinvar/219430 ^@ NM_000059.3(BRCA2):c.682-15C>T http://identifiers.org/clinvar/219700 ^@ NM_000059.3(BRCA2):c.969A>T (p.Val323=) http://identifiers.org/clinvar/219579 ^@ NM_000059.3(BRCA2):c.987G>A (p.Arg329=) http://identifiers.org/clinvar/220158 ^@ NM_000059.3(BRCA2):c.1291A>C (p.Thr431Pro) http://identifiers.org/clinvar/219664 ^@ NM_000059.3(BRCA2):c.1383G>A (p.Glu461=) http://identifiers.org/clinvar/219539 ^@ NM_000059.3(BRCA2):c.1441A>G (p.Ile481Val) http://identifiers.org/clinvar/220031 ^@ NM_000059.3(BRCA2):c.1462A>C (p.Ile488Leu) http://identifiers.org/clinvar/220894 ^@ NM_000059.3(BRCA2):c.1561T>C (p.Ser521Pro) http://identifiers.org/clinvar/219900 ^@ NM_000059.3(BRCA2):c.1780A>T (p.Ile594Leu) http://identifiers.org/clinvar/220876 ^@ NM_000059.3(BRCA2):c.1909+22dupT http://identifiers.org/clinvar/219593 ^@ NM_000059.3(BRCA2):c.1996A>G (p.Ile666Val) http://identifiers.org/clinvar/220324 ^@ NM_000059.3(BRCA2):c.2596G>C (p.Glu866Gln) http://identifiers.org/clinvar/220166 ^@ NM_000059.3(BRCA2):c.2616A>G (p.Lys872=) http://identifiers.org/clinvar/220008 ^@ NM_000059.3(BRCA2):c.3188A>G (p.Gln1063Arg) http://identifiers.org/clinvar/220624 ^@ NM_000059.3(BRCA2):c.3191C>G (p.Ser1064Ter) http://identifiers.org/clinvar/220844 ^@ NM_000059.3(BRCA2):c.3201delT (p.Val1068Tyrfs) http://identifiers.org/clinvar/219602 ^@ NM_000059.3(BRCA2):c.3327A>G (p.Ala1109=) http://identifiers.org/clinvar/219682 ^@ NM_000059.3(BRCA2):c.3329A>C (p.Glu1110Ala) http://identifiers.org/clinvar/220061 ^@ NM_000059.3(BRCA2):c.3540G>C (p.Lys1180Asn) http://identifiers.org/clinvar/219514 ^@ NM_000059.3(BRCA2):c.3649delA (p.Arg1217Glyfs) http://identifiers.org/clinvar/220558 ^@ NM_000059.3(BRCA2):c.3693T>C (p.Thr1231=) http://identifiers.org/clinvar/220287 ^@ NM_000059.3(BRCA2):c.3835_3837delAAT (p.Asn1279del) http://identifiers.org/clinvar/219589 ^@ NM_000059.3(BRCA2):c.4114T>A (p.Phe1372Ile) http://identifiers.org/clinvar/219505 ^@ NM_000059.3(BRCA2):c.4120A>G (p.Lys1374Glu) http://identifiers.org/clinvar/219536 ^@ NM_000059.3(BRCA2):c.4338T>C (p.Ile1446=) http://identifiers.org/clinvar/219934 ^@ NM_000059.3(BRCA2):c.4445A>G (p.Glu1482Gly) http://identifiers.org/clinvar/220561 ^@ NM_000059.3(BRCA2):c.4527A>C (p.Gln1509His) http://identifiers.org/clinvar/220490 ^@ NM_000059.3(BRCA2):c.4688G>T (p.Trp1563Leu) http://identifiers.org/clinvar/220160 ^@ NM_000059.3(BRCA2):c.4740_4741dupTG (p.Glu1581Valfs) http://identifiers.org/clinvar/220221 ^@ NM_000059.3(BRCA2):c.4814T>C (p.Val1605Ala) http://identifiers.org/clinvar/220222 ^@ NM_000059.3(BRCA2):c.4865G>C (p.Arg1622Thr) http://identifiers.org/clinvar/220054 ^@ NM_000059.3(BRCA2):c.4938A>G (p.Glu1646=) http://identifiers.org/clinvar/219406 ^@ NM_000059.3(BRCA2):c.5016C>G (p.Tyr1672Ter) http://identifiers.org/clinvar/220506 ^@ NM_000059.3(BRCA2):c.5030G>T (p.Arg1677Ile) http://identifiers.org/clinvar/220003 ^@ NM_000059.3(BRCA2):c.5214T>G (p.Thr1738=) http://identifiers.org/clinvar/220028 ^@ NM_000059.3(BRCA2):c.5396C>T (p.Ala1799Val) http://identifiers.org/clinvar/220409 ^@ NM_000059.3(BRCA2):c.5733T>G (p.Asp1911Glu) http://identifiers.org/clinvar/220443 ^@ NM_000059.3(BRCA2):c.5932T>G (p.Phe1978Val) http://identifiers.org/clinvar/220001 ^@ NM_000059.3(BRCA2):c.6011A>G (p.Glu2004Gly) http://identifiers.org/clinvar/220395 ^@ NM_000059.3(BRCA2):c.6054T>C (p.Ser2018=) http://identifiers.org/clinvar/221080 ^@ NM_000059.3(BRCA2):c.6111A>T (p.Glu2037Asp) http://identifiers.org/clinvar/221125 ^@ NM_000059.3(BRCA2):c.6236T>A (p.Val2079Glu) http://identifiers.org/clinvar/220413 ^@ NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) http://identifiers.org/clinvar/219426 ^@ NM_000059.3(BRCA2):c.6254T>G (p.Leu2085Ter) http://identifiers.org/clinvar/219757 ^@ NM_000059.3(BRCA2):c.6264T>C (p.Thr2088=) http://identifiers.org/clinvar/219680 ^@ NM_000059.3(BRCA2):c.6638C>T (p.Ser2213Phe) http://identifiers.org/clinvar/220265 ^@ NM_000059.3(BRCA2):c.6750A>C (p.Thr2250=) http://identifiers.org/clinvar/220366 ^@ NM_000059.3(BRCA2):c.6810A>G (p.Gly2270=) http://identifiers.org/clinvar/219496 ^@ NM_000059.3(BRCA2):c.6998dupT (p.Pro2334Thrfs) http://identifiers.org/clinvar/220504 ^@ NM_000059.3(BRCA2):c.7007+10_7007+12delGTT http://identifiers.org/clinvar/219852 ^@ NM_000059.3(BRCA2):c.7007+18T>A http://identifiers.org/clinvar/220661 ^@ NM_000059.3(BRCA2):c.7540A>G (p.Lys2514Glu) http://identifiers.org/clinvar/220547 ^@ NM_000059.3(BRCA2):c.7618-10T>G http://identifiers.org/clinvar/220672 ^@ NM_000059.3(BRCA2):c.7805+9T>A http://identifiers.org/clinvar/220500 ^@ NM_000059.3(BRCA2):c.7874G>A (p.Arg2625Lys) http://identifiers.org/clinvar/220644 ^@ NM_000059.3(BRCA2):c.8332-4C>G http://identifiers.org/clinvar/220746 ^@ NM_000059.3(BRCA2):c.8569G>C (p.Ala2857Pro) http://identifiers.org/clinvar/220790 ^@ NM_000059.3(BRCA2):c.8646A>T (p.Lys2882Asn) http://identifiers.org/clinvar/219869 ^@ NM_000059.3(BRCA2):c.8718A>G (p.Glu2906=) http://identifiers.org/clinvar/220353 ^@ NM_000059.3(BRCA2):c.8754+4A>T http://identifiers.org/clinvar/221071 ^@ NM_000059.3(BRCA2):c.8902_8913delACCGTGTGGAAGinsTCCC (p.Thr2968Serfs) http://identifiers.org/clinvar/220336 ^@ NM_000059.3(BRCA2):c.8904C>T (p.Thr2968=) http://identifiers.org/clinvar/219665 ^@ NM_000059.3(BRCA2):c.8987T>A (p.Leu2996Ter) http://identifiers.org/clinvar/220925 ^@ NM_000059.3(BRCA2):c.9022A>G (p.Ile3008Val) http://identifiers.org/clinvar/220532 ^@ NM_000059.3(BRCA2):c.9027T>G (p.Tyr3009Ter) http://identifiers.org/clinvar/220564 ^@ NM_000059.3(BRCA2):c.9096A>C (p.Lys3032Asn) http://identifiers.org/clinvar/220639 ^@ NM_000059.3(BRCA2):c.9365C>T (p.Ala3122Val) http://identifiers.org/clinvar/220108 ^@ NM_000059.3(BRCA2):c.9369C>T (p.Ser3123=) http://identifiers.org/clinvar/220169 ^@ NM_000059.3(BRCA2):c.9507T>C (p.Ile3169=) http://identifiers.org/clinvar/219818 ^@ NM_000059.3(BRCA2):c.9649-18T>C http://identifiers.org/clinvar/221009 ^@ NM_000059.3(BRCA2):c.9824G>A (p.Ser3275Asn) http://identifiers.org/clinvar/221089 ^@ NM_000059.3(BRCA2):c.10171A>G (p.Ile3391Val) http://identifiers.org/clinvar/220161 ^@ NM_000059.3(BRCA2):c.10232C>T (p.Thr3411Ile) http://identifiers.org/clinvar/220931 ^@ NM_001376.4(DYNC1H1):c.7539G>C (p.Glu2513Asp) http://identifiers.org/clinvar/220729 ^@ NM_014844.4(TECPR2):c.1802C>T (p.Pro601Leu) http://identifiers.org/clinvar/221132 ^@ NM_014844.4(TECPR2):c.3275C>T (p.Ser1092Leu) http://identifiers.org/clinvar/220815 ^@ NM_005163.2(AKT1):c.1394G>A (p.Arg465His) http://identifiers.org/clinvar/221141 ^@ NM_005163.2(AKT1):c.1251C>T (p.Tyr417=) http://identifiers.org/clinvar/220941 ^@ NM_005163.2(AKT1):c.958-7C>T http://identifiers.org/clinvar/220701 ^@ NM_002471.3(MYH6):c.5001C>T (p.Asp1667=) http://identifiers.org/clinvar/220788 ^@ NM_002471.3(MYH6):c.3979-9_3979-8delCC http://identifiers.org/clinvar/220731 ^@ NM_002471.3(MYH6):c.1087A>T (p.Met363Leu) http://identifiers.org/clinvar/219836 ^@ NM_000257.3(MYH7):c.1615A>C (p.Met539Leu) http://identifiers.org/clinvar/220106 ^@ NM_000257.3(MYH7):c.134A>G (p.Glu45Gly) http://identifiers.org/clinvar/219711 ^@ NM_018139.2(DNAAF2):c.1406G>A (p.Cys469Tyr) http://identifiers.org/clinvar/221191 ^@ NM_018139.2(DNAAF2):c.707C>T (p.Pro236Leu) http://identifiers.org/clinvar/220954 ^@ NM_018139.2(DNAAF2):c.676T>C (p.Tyr226His) http://identifiers.org/clinvar/221190 ^@ NM_018139.2(DNAAF2):c.78C>T (p.Ala26=) http://identifiers.org/clinvar/220424 ^@ NM_015915.4(ATL1):c.757G>A (p.Val253Ile) http://identifiers.org/clinvar/219428 ^@ NM_015915.4(ATL1):c.1193C>A (p.Ser398Tyr) http://identifiers.org/clinvar/219827 ^@ NM_015915.4(ATL1):c.1483C>T (p.Arg495Trp) http://identifiers.org/clinvar/221131 ^@ NM_001160147.1(DDHD1):c.331_336dupGGCGGC (p.Gly112_Ser113insGlyGly) http://identifiers.org/clinvar/220663 ^@ NM_015346.3(ZFYVE26):c.7232G>A (p.Arg2411His) http://identifiers.org/clinvar/220542 ^@ NM_015346.3(ZFYVE26):c.7150G>A (p.Val2384Ile) http://identifiers.org/clinvar/219560 ^@ NM_015346.3(ZFYVE26):c.5612G>A (p.Cys1871Tyr) http://identifiers.org/clinvar/219623 ^@ NM_015346.3(ZFYVE26):c.5260G>A (p.Ala1754Thr) http://identifiers.org/clinvar/219550 ^@ NM_015346.3(ZFYVE26):c.3044T>C (p.Leu1015Pro) http://identifiers.org/clinvar/220334 ^@ NM_015346.3(ZFYVE26):c.2826G>A (p.Met942Ile) http://identifiers.org/clinvar/220659 ^@ NM_015346.3(ZFYVE26):c.2615G>A (p.Arg872His) http://identifiers.org/clinvar/220992 ^@ NM_015346.3(ZFYVE26):c.2112C>T (p.Pro704=) http://identifiers.org/clinvar/219559 ^@ NM_015346.3(ZFYVE26):c.1844C>T (p.Ser615Phe) http://identifiers.org/clinvar/220660 ^@ NM_015346.3(ZFYVE26):c.597G>A (p.Lys199=) http://identifiers.org/clinvar/220484 ^@ NM_031427.3(DNAL1):c.81G>C (p.Glu27Asp) http://identifiers.org/clinvar/220963 ^@ NM_001040108.1(MLH3):c.2896T>C (p.Ser966Pro) http://identifiers.org/clinvar/220674 ^@ NM_001040108.1(MLH3):c.2533A>G (p.Ser845Gly) http://identifiers.org/clinvar/220781 ^@ NM_001040108.1(MLH3):c.691A>C (p.Lys231Gln) http://identifiers.org/clinvar/221151 ^@ NM_001040108.1(MLH3):c.444G>C (p.Val148=) http://identifiers.org/clinvar/221150 ^@ NM_001040108.1(MLH3):c.408T>C (p.Asp136=) http://identifiers.org/clinvar/220945 ^@ NM_177438.2(DICER1):c.5643T>C (p.Thr1881=) http://identifiers.org/clinvar/221050 ^@ NM_177438.2(DICER1):c.5145C>T (p.Leu1715=) http://identifiers.org/clinvar/221072 ^@ NM_177438.2(DICER1):c.4891T>G (p.Ser1631Ala) http://identifiers.org/clinvar/220773 ^@ NM_177438.2(DICER1):c.4874C>A (p.Ser1625Tyr) http://identifiers.org/clinvar/220667 ^@ NM_177438.2(DICER1):c.4773C>T (p.Leu1591=) http://identifiers.org/clinvar/221051 ^@ NM_177438.2(DICER1):c.4206+8_4206+9insTTGT http://identifiers.org/clinvar/220996 ^@ NM_177438.2(DICER1):c.4206+8_4206+9insTTGTGTGT http://identifiers.org/clinvar/220997 ^@ NM_177438.2(DICER1):c.4206+8_4206+9insTTGTGTGTGT http://identifiers.org/clinvar/221129 ^@ NM_177438.2(DICER1):c.4206+7_4206+8dupTT http://identifiers.org/clinvar/221087 ^@ NM_177438.2(DICER1):c.4014G>A (p.Ala1338=) http://identifiers.org/clinvar/220744 ^@ NM_177438.2(DICER1):c.3972G>A (p.Lys1324=) http://identifiers.org/clinvar/220926 ^@ NM_177438.2(DICER1):c.3519A>G (p.Thr1173=) http://identifiers.org/clinvar/221054 ^@ NM_177438.2(DICER1):c.3466T>G (p.Leu1156Val) http://identifiers.org/clinvar/220594 ^@ NM_177438.2(DICER1):c.3428T>C (p.Leu1143Pro) http://identifiers.org/clinvar/221128 ^@ NM_177438.2(DICER1):c.2370G>A (p.Arg790=) http://identifiers.org/clinvar/221180 ^@ NM_177438.2(DICER1):c.1935G>A (p.Pro645=) http://identifiers.org/clinvar/220593 ^@ NM_177438.2(DICER1):c.1510-4dupT http://identifiers.org/clinvar/220838 ^@ NM_177438.2(DICER1):c.1377-4T>G http://identifiers.org/clinvar/221115 ^@ NM_177438.2(DICER1):c.1377-9T>C http://identifiers.org/clinvar/220752 ^@ NM_177438.2(DICER1):c.1191C>T (p.Ser397=) http://identifiers.org/clinvar/220595 ^@ NM_177438.2(DICER1):c.924C>T (p.Ala308=) http://identifiers.org/clinvar/220676 ^@ NM_177438.2(DICER1):c.559C>T (p.Arg187Ter) http://identifiers.org/clinvar/220675 ^@ NM_177438.2(DICER1):c.489C>G (p.Tyr163Ter) http://identifiers.org/clinvar/220875 ^@ NM_177438.2(DICER1):c.366G>A (p.Gly122=) http://identifiers.org/clinvar/220307 ^@ NM_005159.4(ACTC1):c.333G>A (p.Pro111=) http://identifiers.org/clinvar/220213 ^@ NM_152594.2(SPRED1):c.51G>A (p.Val17=) http://identifiers.org/clinvar/220172 ^@ NM_152594.2(SPRED1):c.796_797delAT (p.Met266Valfs) http://identifiers.org/clinvar/219637 ^@ NM_025137.3(SPG11):c.7249_7251delGAAinsCTGTT (p.Glu2417Leufs) http://identifiers.org/clinvar/220388 ^@ NM_025137.3(SPG11):c.7197G>A (p.Lys2399=) http://identifiers.org/clinvar/220392 ^@ NM_025137.3(SPG11):c.6091C>G (p.Arg2031Gly) http://identifiers.org/clinvar/219558 ^@ NM_025137.3(SPG11):c.5059G>A (p.Ala1687Thr) http://identifiers.org/clinvar/219650 ^@ NM_025137.3(SPG11):c.3023A>C (p.Tyr1008Ser) http://identifiers.org/clinvar/220566 ^@ NM_025137.3(SPG11):c.2083G>A (p.Ala695Thr) http://identifiers.org/clinvar/219609 ^@ NM_025137.3(SPG11):c.1698T>G (p.Asp566Glu) http://identifiers.org/clinvar/220565 ^@ NM_025137.3(SPG11):c.1108G>A (p.Glu370Lys) http://identifiers.org/clinvar/219661 ^@ NM_025137.3(SPG11):c.177T>A (p.Ala59=) http://identifiers.org/clinvar/221117 ^@ NM_000138.4(FBN1):c.7169G>A (p.Cys2390Tyr) http://identifiers.org/clinvar/220855 ^@ NM_000138.4(FBN1):c.5555A>G (p.Glu1852Gly) http://identifiers.org/clinvar/220848 ^@ NM_001018005.1(TPM1):c.511A>C (p.Ile171Leu) http://identifiers.org/clinvar/220662 ^@ NM_016630.6(SPG21):c.843C>T (p.Tyr281=) http://identifiers.org/clinvar/221020 ^@ NM_005477.2(HCN4):c.2673G>A (p.Ser891=) http://identifiers.org/clinvar/221078 ^@ NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) http://identifiers.org/clinvar/220898 ^@ NM_001113378.1(FANCI):c.445G>A (p.Gly149Ser) http://identifiers.org/clinvar/219634 ^@ NM_001113378.1(FANCI):c.3623_3624delTG (p.Cys1209Leufs) http://identifiers.org/clinvar/221079 ^@ NM_001113378.1(FANCI):c.3924+1G>A http://identifiers.org/clinvar/220018 ^@ NM_000057.3(BLM):c.2580_2581delTA (p.His860Glnfs) http://identifiers.org/clinvar/220019 ^@ NM_000057.3(BLM):c.3558+1G>T http://identifiers.org/clinvar/219880 ^@ NM_024675.3(PALB2):c.3202-?_*(1_?)del http://identifiers.org/clinvar/219816 ^@ NM_024675.3(PALB2):c.3114-?_*(1_?)del http://identifiers.org/clinvar/220603 ^@ NM_004360.4(CDH1):c.388-?_*2042+?del http://identifiers.org/clinvar/221090 ^@ NM_004862.3(LITAF):c.479G>A (p.Arg160His) http://identifiers.org/clinvar/221057 ^@ NM_004862.3(LITAF):c.333C>T (p.Ala111=) http://identifiers.org/clinvar/219573 ^@ NM_004862.3(LITAF):c.330C>T (p.Asn110=) http://identifiers.org/clinvar/220753 ^@ NM_004862.3(LITAF):c.234G>A (p.Thr78=) http://identifiers.org/clinvar/220975 ^@ NM_001040113.1(MYH11):c.4459G>C (p.Glu1487Gln) http://identifiers.org/clinvar/221033 ^@ NM_001040113.1(MYH11):c.4218G>A (p.Lys1406=) http://identifiers.org/clinvar/221095 ^@ NM_001040113.1(MYH11):c.2120G>T (p.Arg707Leu) http://identifiers.org/clinvar/220799 ^@ NM_001040113.1(MYH11):c.2070C>T (p.His690=) http://identifiers.org/clinvar/221070 ^@ NM_000548.4(TSC2):c.2546-4G>A http://identifiers.org/clinvar/221121 ^@ NM_000548.4(TSC2):c.2838-6C>T http://identifiers.org/clinvar/220843 ^@ NM_000548.4(TSC2):c.4617A>G (p.Ser1539=) http://identifiers.org/clinvar/220803 ^@ NM_000548.4(TSC2):c.4716G>A (p.Thr1572=) http://identifiers.org/clinvar/220669 ^@ NM_024675.3(PALB2):c.3373G>T (p.Asp1125Tyr) http://identifiers.org/clinvar/219641 ^@ NM_024675.3(PALB2):c.3350+1G>A http://identifiers.org/clinvar/219647 ^@ NM_024675.3(PALB2):c.3331C>G (p.Pro1111Ala) http://identifiers.org/clinvar/220948 ^@ NM_024675.3(PALB2):c.3310G>A (p.Gly1104Ser) http://identifiers.org/clinvar/220310 ^@ NM_024675.3(PALB2):c.3286_3289delAACCinsGTTAATGA (p.Asn1096Valfs) http://identifiers.org/clinvar/219518 ^@ NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter) http://identifiers.org/clinvar/219857 ^@ NM_024675.3(PALB2):c.3103A>T (p.Ile1035Phe) http://identifiers.org/clinvar/220010 ^@ NM_024675.3(PALB2):c.3059A>G (p.Gln1020Arg) http://identifiers.org/clinvar/220436 ^@ NM_024675.3(PALB2):c.2899A>C (p.Lys967Gln) http://identifiers.org/clinvar/220338 ^@ NM_024675.3(PALB2):c.2834+2T>G http://identifiers.org/clinvar/220808 ^@ NM_024675.3(PALB2):c.2561A>G (p.Asn854Ser) http://identifiers.org/clinvar/220617 ^@ NM_024675.3(PALB2):c.2469C>G (p.Leu823=) http://identifiers.org/clinvar/221122 ^@ NM_024675.3(PALB2):c.2031T>C (p.Val677=) http://identifiers.org/clinvar/221170 ^@ NM_024675.3(PALB2):c.1805A>T (p.Gln602Leu) http://identifiers.org/clinvar/219588 ^@ NM_024675.3(PALB2):c.1794G>A (p.Leu598=) http://identifiers.org/clinvar/220529 ^@ NM_024675.3(PALB2):c.1758T>C (p.Asp586=) http://identifiers.org/clinvar/220449 ^@ NM_024675.3(PALB2):c.1647C>A (p.His549Gln) http://identifiers.org/clinvar/219591 ^@ NM_024675.3(PALB2):c.1563C>G (p.Thr521=) http://identifiers.org/clinvar/219875 ^@ NM_024675.3(PALB2):c.1457A>T (p.Lys486Ile) http://identifiers.org/clinvar/219990 ^@ NM_024675.3(PALB2):c.1178A>G (p.Lys393Arg) http://identifiers.org/clinvar/219897 ^@ NM_024675.3(PALB2):c.860dupT (p.Ser288Lysfs) http://identifiers.org/clinvar/220919 ^@ NM_024675.3(PALB2):c.761C>A (p.Ser254Ter) http://identifiers.org/clinvar/221034 ^@ NM_024675.3(PALB2):c.660T>C (p.Ser220=) http://identifiers.org/clinvar/220827 ^@ NM_024675.3(PALB2):c.554A>G (p.Lys185Arg) http://identifiers.org/clinvar/219855 ^@ NM_024675.3(PALB2):c.541G>C (p.Glu181Gln) http://identifiers.org/clinvar/220654 ^@ NM_024675.3(PALB2):c.508A>G (p.Arg170Gly) http://identifiers.org/clinvar/220173 ^@ NM_024675.3(PALB2):c.398G>T (p.Ser133Ile) http://identifiers.org/clinvar/220289 ^@ NM_024675.3(PALB2):c.393G>C (p.Arg131Ser) http://identifiers.org/clinvar/220168 ^@ NM_024675.3(PALB2):c.226A>G (p.Ile76Val) http://identifiers.org/clinvar/220112 ^@ NM_024675.3(PALB2):c.149A>C (p.Lys50Thr) http://identifiers.org/clinvar/220218 ^@ NM_024675.3(PALB2):c.109C>T (p.Arg37Cys) http://identifiers.org/clinvar/220371 ^@ NM_024675.3(PALB2):c.93dupA (p.Leu32Thrfs) http://identifiers.org/clinvar/220193 ^@ NM_032444.2(SLX4):c.3583_3585delATT (p.Ile1195del) http://identifiers.org/clinvar/220761 ^@ NM_032444.2(SLX4):c.2193C>T (p.Asp731=) http://identifiers.org/clinvar/220046 ^@ NM_032575.2(GLIS2):c.1180G>A (p.Gly394Ser) http://identifiers.org/clinvar/220093 ^@ NM_032575.2(GLIS2):c.1259C>T (p.Pro420Leu) http://identifiers.org/clinvar/220305 ^@ NM_015272.4(RPGRIP1L):c.3211G>A (p.Glu1071Lys) http://identifiers.org/clinvar/221174 ^@ NM_004360.4(CDH1):c.-71C>G http://identifiers.org/clinvar/221181 ^@ NM_004360.4(CDH1):c.-54G>C http://identifiers.org/clinvar/220798 ^@ NM_004360.4(CDH1):c.44_46dupTGC (p.Leu15_Gln16insLeu) http://identifiers.org/clinvar/219699 ^@ NM_004360.4(CDH1):c.102C>T (p.Ala34=) http://identifiers.org/clinvar/220373 ^@ NM_004360.4(CDH1):c.200C>A (p.Ala67Asp) http://identifiers.org/clinvar/219528 ^@ NM_004360.4(CDH1):c.208T>A (p.Ser70Thr) http://identifiers.org/clinvar/220325 ^@ NM_004360.4(CDH1):c.232G>A (p.Gly78Ser) http://identifiers.org/clinvar/219521 ^@ NM_004360.4(CDH1):c.251C>T (p.Thr84Ile) http://identifiers.org/clinvar/220611 ^@ NM_004360.4(CDH1):c.286A>G (p.Ile96Val) http://identifiers.org/clinvar/219497 ^@ NM_004360.4(CDH1):c.388-8C>T http://identifiers.org/clinvar/219863 ^@ NM_004360.4(CDH1):c.413A>G (p.Glu138Gly) http://identifiers.org/clinvar/219431 ^@ NM_004360.4(CDH1):c.499G>A (p.Glu167Lys) http://identifiers.org/clinvar/220776 ^@ NM_004360.4(CDH1):c.504delA (p.Gly169Alafs) http://identifiers.org/clinvar/219527 ^@ NM_004360.4(CDH1):c.650C>A (p.Thr217Lys) http://identifiers.org/clinvar/220520 ^@ NM_004360.4(CDH1):c.759C>T (p.Thr253=) http://identifiers.org/clinvar/220015 ^@ NM_004360.4(CDH1):c.829C>T (p.Pro277Ser) http://identifiers.org/clinvar/219957 ^@ NM_004360.4(CDH1):c.846G>A (p.Met282Ile) http://identifiers.org/clinvar/220191 ^@ NM_004360.4(CDH1):c.906C>T (p.Tyr302=) http://identifiers.org/clinvar/220109 ^@ NM_004360.4(CDH1):c.1223C>G (p.Ala408Gly) http://identifiers.org/clinvar/220738 ^@ NM_004360.4(CDH1):c.1303A>G (p.Ile435Val) http://identifiers.org/clinvar/219581 ^@ NM_004360.4(CDH1):c.1319A>G (p.Lys440Arg) http://identifiers.org/clinvar/219628 ^@ NM_004360.4(CDH1):c.1333G>C (p.Glu445Gln) http://identifiers.org/clinvar/220600 ^@ NM_004360.4(CDH1):c.1566-6G>A http://identifiers.org/clinvar/220445 ^@ NM_004360.4(CDH1):c.1585A>G (p.Thr529Ala) http://identifiers.org/clinvar/219399 ^@ NM_004360.4(CDH1):c.1615A>G (p.Thr539Ala) http://identifiers.org/clinvar/219975 ^@ NM_004360.4(CDH1):c.1689C>A (p.Ala563=) http://identifiers.org/clinvar/219727 ^@ NM_004360.4(CDH1):c.1711+9G>C http://identifiers.org/clinvar/220604 ^@ NM_004360.4(CDH1):c.1757C>T (p.Ser586Phe) http://identifiers.org/clinvar/219944 ^@ NM_004360.4(CDH1):c.1770C>A (p.Asp590Glu) http://identifiers.org/clinvar/220630 ^@ NM_004360.4(CDH1):c.1808G>C (p.Cys603Ser) http://identifiers.org/clinvar/220066 ^@ NM_004360.4(CDH1):c.1936+4G>A http://identifiers.org/clinvar/220382 ^@ NM_004360.4(CDH1):c.1993A>G (p.Ile665Val) http://identifiers.org/clinvar/220300 ^@ NM_004360.4(CDH1):c.2076_2077invTG (p.Gly693Argfs) http://identifiers.org/clinvar/219662 ^@ NM_004360.4(CDH1):c.2194C>T (p.Arg732Trp) http://identifiers.org/clinvar/220271 ^@ NM_004360.4(CDH1):c.2351G>A (p.Arg784His) http://identifiers.org/clinvar/220523 ^@ NM_004360.4(CDH1):c.2440-10T>C http://identifiers.org/clinvar/219925 ^@ NM_004360.4(CDH1):c.2486C>A (p.Ser829Tyr) http://identifiers.org/clinvar/219724 ^@ NM_004360.4(CDH1):c.2541C>T (p.Ser847=) http://identifiers.org/clinvar/220461 ^@ NM_004360.4(CDH1):c.2590G>C (p.Glu864Gln) http://identifiers.org/clinvar/220695 ^@ NM_004360.4(CDH1):c.2602C>T (p.Arg868Cys) http://identifiers.org/clinvar/219712 ^@ NM_004360.4(CDH1):c.2640G>A (p.Glu880=) http://identifiers.org/clinvar/220723 ^@ NM_001605.2(AARS):c.2900A>T (p.Lys967Met) http://identifiers.org/clinvar/220930 ^@ NM_001605.2(AARS):c.2459A>G (p.Lys820Arg) http://identifiers.org/clinvar/221031 ^@ NM_001605.2(AARS):c.2400+8C>T http://identifiers.org/clinvar/220481 ^@ NM_001605.2(AARS):c.849T>C (p.Val283=) http://identifiers.org/clinvar/220579 ^@ NM_178452.5(DNAAF1):c.1377T>A (p.Asp459Glu) http://identifiers.org/clinvar/219638 ^@ NM_003119.3(SPG7):c.656T>C (p.Ile219Thr) http://identifiers.org/clinvar/220393 ^@ NM_003119.3(SPG7):c.1904C>T (p.Ser635Leu) http://identifiers.org/clinvar/220101 ^@ NM_003119.3(SPG7):c.1948G>A (p.Asp650Asn) http://identifiers.org/clinvar/219448 ^@ NM_003119.3(SPG7):c.2084T>C (p.Leu695Pro) http://identifiers.org/clinvar/219753 ^@ NM_000135.2(FANCA):c.4069_4082delGCTGTGGACATGTA (p.Ala1357Leufs) http://identifiers.org/clinvar/219752 ^@ NM_000135.2(FANCA):c.3349A>G (p.Arg1117Gly) http://identifiers.org/clinvar/219633 ^@ NM_000135.2(FANCA):c.416_417delTG (p.Val139Glyfs) http://identifiers.org/clinvar/219632 ^@ NM_000135.2(FANCA):c.238delT (p.Cys80Valfs) http://identifiers.org/clinvar/219404 ^@ NM_000267.3(NF1):c.5944-?_6858+?del http://identifiers.org/clinvar/219561 ^@ NM_007294.3(BRCA1):c.5407-?_*(1_?)del http://identifiers.org/clinvar/219772 ^@ NM_007294.3(BRCA1):c.548-?_4185+?del http://identifiers.org/clinvar/220119 ^@ NM_007294.3(BRCA1):c.135-?_441+?dup http://identifiers.org/clinvar/219523 ^@ NM_007294.3(BRCA1):c.(?_-1)_80+?dup http://identifiers.org/clinvar/219702 ^@ NM_058216.2(RAD51C):c.(?_-1)_837+?del http://identifiers.org/clinvar/219825 ^@ NM_058216.2(RAD51C):c.572-?_*(1_?)del http://identifiers.org/clinvar/220726 ^@ NM_058216.2(RAD51C):c.572-?_*120+?del http://identifiers.org/clinvar/220591 ^@ NM_058216.2(RAD51C):c.706-?_*120+?del http://identifiers.org/clinvar/219988 ^@ NM_058216.2(RAD51C):c.966-?_1026+?del http://identifiers.org/clinvar/219676 ^@ NM_032043.2(BRIP1):c.1474-?_1628+?del http://identifiers.org/clinvar/220685 ^@ NM_018127.6(ELAC2):c.2376G>A (p.Ala792=) http://identifiers.org/clinvar/220978 ^@ NM_018127.6(ELAC2):c.1305-8_1305-7insTCTC http://identifiers.org/clinvar/220861 ^@ NM_000304.3(PMP22):c.280_281delGGinsT (p.Gly94Serfs) http://identifiers.org/clinvar/219616 ^@ NM_000304.3(PMP22):c.138delC (p.Ser47Glnfs) http://identifiers.org/clinvar/220767 ^@ NM_144997.5(FLCN):c.1252delC (p.Leu418Trpfs) http://identifiers.org/clinvar/220230 ^@ NM_178170.2(NEK8):c.2011G>A (p.Val671Met) http://identifiers.org/clinvar/219977 ^@ NM_000267.3(NF1):c.-8G>A http://identifiers.org/clinvar/219691 ^@ NM_000267.3(NF1):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/220180 ^@ NM_000267.3(NF1):c.403C>T (p.Arg135Trp) http://identifiers.org/clinvar/220456 ^@ NM_000267.3(NF1):c.456A>C (p.Ala152=) http://identifiers.org/clinvar/220294 ^@ NM_000267.3(NF1):c.703T>C (p.Tyr235His) http://identifiers.org/clinvar/220110 ^@ NM_000267.3(NF1):c.740A>G (p.Glu247Gly) http://identifiers.org/clinvar/219894 ^@ NM_000267.3(NF1):c.885T>A (p.Asn295Lys) http://identifiers.org/clinvar/220058 ^@ NM_000267.3(NF1):c.889-6delC http://identifiers.org/clinvar/219385 ^@ NM_000267.3(NF1):c.1042T>C (p.Ser348Pro) http://identifiers.org/clinvar/219467 ^@ NM_000267.3(NF1):c.1094C>A (p.Ser365Ter) http://identifiers.org/clinvar/219572 ^@ NM_000267.3(NF1):c.1185+1G>A http://identifiers.org/clinvar/219762 ^@ NM_000267.3(NF1):c.1389A>G (p.Ala463=) http://identifiers.org/clinvar/220921 ^@ NM_000267.3(NF1):c.1392+7T>C http://identifiers.org/clinvar/220187 ^@ NM_000267.3(NF1):c.1479C>G (p.Leu493=) http://identifiers.org/clinvar/220148 ^@ NM_000267.3(NF1):c.1888G>A (p.Val630Ile) http://identifiers.org/clinvar/220104 ^@ NM_000267.3(NF1):c.2002-9G>T http://identifiers.org/clinvar/220491 ^@ NM_000267.3(NF1):c.2126G>A (p.Cys709Tyr) http://identifiers.org/clinvar/220274 ^@ NM_000267.3(NF1):c.2232C>G (p.Val744=) http://identifiers.org/clinvar/219531 ^@ NM_000267.3(NF1):c.2251+2T>G http://identifiers.org/clinvar/220620 ^@ NM_000267.3(NF1):c.2284C>T (p.Leu762=) http://identifiers.org/clinvar/220840 ^@ NM_000267.3(NF1):c.2447G>A (p.Arg816Gln) http://identifiers.org/clinvar/219435 ^@ NM_000267.3(NF1):c.2541T>C (p.Leu847=) http://identifiers.org/clinvar/220990 ^@ NM_000267.3(NF1):c.2599A>G (p.Met867Val) http://identifiers.org/clinvar/220707 ^@ NM_000267.3(NF1):c.2666C>G (p.Thr889Arg) http://identifiers.org/clinvar/220708 ^@ NM_000267.3(NF1):c.2850+5A>G http://identifiers.org/clinvar/219976 ^@ NM_000267.3(NF1):c.3000T>C (p.Arg1000=) http://identifiers.org/clinvar/220267 ^@ NM_000267.3(NF1):c.3103A>G (p.Met1035Val) http://identifiers.org/clinvar/220515 ^@ NM_000267.3(NF1):c.3198-5_3198-4delTT http://identifiers.org/clinvar/220995 ^@ NM_000267.3(NF1):c.3198-3dupC http://identifiers.org/clinvar/220302 ^@ NM_000267.3(NF1):c.3198A>G (p.Arg1066=) http://identifiers.org/clinvar/220435 ^@ NM_000267.3(NF1):c.3417A>C (p.Ala1139=) http://identifiers.org/clinvar/219750 ^@ NM_000267.3(NF1):c.3484A>G (p.Met1162Val) http://identifiers.org/clinvar/219962 ^@ NM_000267.3(NF1):c.3939T>C (p.Asp1313=) http://identifiers.org/clinvar/220232 ^@ NM_000267.3(NF1):c.3975-2A>G http://identifiers.org/clinvar/219670 ^@ NM_000267.3(NF1):c.4012A>C (p.Asn1338His) http://identifiers.org/clinvar/219443 ^@ NM_000267.3(NF1):c.4085G>A (p.Arg1362Gln) http://identifiers.org/clinvar/221137 ^@ NM_000267.3(NF1):c.4111-8_4111-6delGTT http://identifiers.org/clinvar/219424 ^@ NM_000267.3(NF1):c.4124G>A (p.Arg1375His) http://identifiers.org/clinvar/219893 ^@ NM_000267.3(NF1):c.4130C>T (p.Pro1377Leu) http://identifiers.org/clinvar/220165 ^@ NM_000267.3(NF1):c.4143C>T (p.Ile1381=) http://identifiers.org/clinvar/220361 ^@ NM_000267.3(NF1):c.4233A>C (p.Pro1411=) http://identifiers.org/clinvar/219892 ^@ NM_000267.3(NF1):c.4299C>T (p.Leu1433=) http://identifiers.org/clinvar/220020 ^@ NM_000267.3(NF1):c.4462C>T (p.Arg1488Cys) http://identifiers.org/clinvar/220163 ^@ NM_000267.3(NF1):c.4477A>G (p.Asn1493Asp) http://identifiers.org/clinvar/220152 ^@ NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) http://identifiers.org/clinvar/220183 ^@ NM_000267.3(NF1):c.4661+3A>G http://identifiers.org/clinvar/219606 ^@ NM_000267.3(NF1):c.4661+7T>C http://identifiers.org/clinvar/221100 ^@ NM_000267.3(NF1):c.4797T>C (p.Gly1599=) http://identifiers.org/clinvar/220077 ^@ NM_000267.3(NF1):c.5106A>G (p.Gln1702=) http://identifiers.org/clinvar/219686 ^@ NM_000267.3(NF1):c.5162A>G (p.Asn1721Ser) http://identifiers.org/clinvar/220078 ^@ NM_000267.3(NF1):c.5192A>G (p.Lys1731Arg) http://identifiers.org/clinvar/220498 ^@ NM_000267.3(NF1):c.5205+5G>A http://identifiers.org/clinvar/220747 ^@ NM_000267.3(NF1):c.5259G>A (p.Gly1753=) http://identifiers.org/clinvar/220720 ^@ NM_000267.3(NF1):c.5373C>T (p.Phe1791=) http://identifiers.org/clinvar/219722 ^@ NM_000267.3(NF1):c.5434C>T (p.Leu1812=) http://identifiers.org/clinvar/220317 ^@ NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter) http://identifiers.org/clinvar/220757 ^@ NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) http://identifiers.org/clinvar/220602 ^@ NM_000267.3(NF1):c.6364+8C>T http://identifiers.org/clinvar/219972 ^@ NM_000267.3(NF1):c.6574A>G (p.Met2192Val) http://identifiers.org/clinvar/220055 ^@ NM_000267.3(NF1):c.6753C>T (p.Ser2251=) http://identifiers.org/clinvar/220397 ^@ NM_000267.3(NF1):c.6859-2A>G http://identifiers.org/clinvar/220479 ^@ NM_000267.3(NF1):c.6963G>T (p.Leu2321=) http://identifiers.org/clinvar/219389 ^@ NM_000267.3(NF1):c.6983G>A (p.Arg2328His) http://identifiers.org/clinvar/219867 ^@ NM_000267.3(NF1):c.6992A>G (p.Asn2331Ser) http://identifiers.org/clinvar/220301 ^@ NM_000267.3(NF1):c.6999+8A>G http://identifiers.org/clinvar/221040 ^@ NM_000267.3(NF1):c.7000-7_7000-6delTTinsC http://identifiers.org/clinvar/220715 ^@ NM_000267.3(NF1):c.7096_7101delAACTTT (p.Asn2366_Phe2367del) http://identifiers.org/clinvar/220340 ^@ NM_000267.3(NF1):c.7199A>G (p.Asn2400Ser) http://identifiers.org/clinvar/220819 ^@ NM_000267.3(NF1):c.7259-17C>T http://identifiers.org/clinvar/220184 ^@ NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) http://identifiers.org/clinvar/221093 ^@ NM_000267.3(NF1):c.7363T>C (p.Tyr2455His) http://identifiers.org/clinvar/219783 ^@ NM_000267.3(NF1):c.7403A>G (p.Lys2468Arg) http://identifiers.org/clinvar/219947 ^@ NM_000267.3(NF1):c.7416A>G (p.Pro2472=) http://identifiers.org/clinvar/220415 ^@ NM_000267.3(NF1):c.7533C>T (p.Ala2511=) http://identifiers.org/clinvar/219822 ^@ NM_000267.3(NF1):c.7580T>G (p.Ile2527Arg) http://identifiers.org/clinvar/220062 ^@ NM_000267.3(NF1):c.7726T>C (p.Ser2576Pro) http://identifiers.org/clinvar/219941 ^@ NM_000267.3(NF1):c.7806+6G>A http://identifiers.org/clinvar/220337 ^@ NM_000267.3(NF1):c.7807-8C>A http://identifiers.org/clinvar/219935 ^@ NM_000267.3(NF1):c.8233C>T (p.Leu2745=) http://identifiers.org/clinvar/221029 ^@ NM_002230.2(JUP):c.804C>T (p.Asp268=) http://identifiers.org/clinvar/220816 ^@ NM_007294.3(BRCA1):c.*58C>T http://identifiers.org/clinvar/219716 ^@ NM_007294.3(BRCA1):c.5525delT (p.Val1842Glufs) http://identifiers.org/clinvar/219775 ^@ NM_007294.3(BRCA1):c.5372T>C (p.Val1791Ala) http://identifiers.org/clinvar/220900 ^@ NM_007294.3(BRCA1):c.5332+13G>T http://identifiers.org/clinvar/219830 ^@ NM_007294.3(BRCA1):c.5310G>C (p.Gly1770=) http://identifiers.org/clinvar/220103 ^@ NM_007294.3(BRCA1):c.5277+20G>A http://identifiers.org/clinvar/219464 ^@ NM_007294.3(BRCA1):c.5225A>G (p.Asn1742Ser) http://identifiers.org/clinvar/220736 ^@ NM_007294.3(BRCA1):c.5152+5G>C http://identifiers.org/clinvar/219576 ^@ NM_007294.3(BRCA1):c.4971G>C (p.Leu1657=) http://identifiers.org/clinvar/219511 ^@ NM_007294.3(BRCA1):c.4709dupT (p.Phe1571Leufs) http://identifiers.org/clinvar/219819 ^@ NM_007294.3(BRCA1):c.4641G>T (p.Leu1547Phe) http://identifiers.org/clinvar/219563 ^@ NM_007294.3(BRCA1):c.4552C>G (p.Gln1518Glu) http://identifiers.org/clinvar/219494 ^@ NM_007294.3(BRCA1):c.4357+5_4357+6delGT http://identifiers.org/clinvar/220472 ^@ NM_007294.3(BRCA1):c.4182T>C (p.Thr1394=) http://identifiers.org/clinvar/219948 ^@ NM_007294.3(BRCA1):c.4047G>A (p.Thr1349=) http://identifiers.org/clinvar/219751 ^@ NM_007294.3(BRCA1):c.3931A>G (p.Asn1311Asp) http://identifiers.org/clinvar/220135 ^@ NM_007294.3(BRCA1):c.3929C>G (p.Thr1310Arg) http://identifiers.org/clinvar/219423 ^@ NM_007294.3(BRCA1):c.3573C>T (p.Ser1191=) http://identifiers.org/clinvar/219540 ^@ NM_007294.3(BRCA1):c.3468T>C (p.Asp1156=) http://identifiers.org/clinvar/220648 ^@ NM_007294.3(BRCA1):c.2841A>T (p.Lys947Asn) http://identifiers.org/clinvar/219899 ^@ NM_007294.3(BRCA1):c.2791G>T (p.Val931Leu) http://identifiers.org/clinvar/220573 ^@ NM_007294.3(BRCA1):c.2747A>T (p.Asn916Ile) http://identifiers.org/clinvar/220359 ^@ NM_007294.3(BRCA1):c.2604A>C (p.Ser868=) http://identifiers.org/clinvar/219500 ^@ NM_007294.3(BRCA1):c.2567A>G (p.Tyr856Cys) http://identifiers.org/clinvar/220539 ^@ NM_007294.3(BRCA1):c.2496A>T (p.Pro832=) http://identifiers.org/clinvar/220464 ^@ NM_007294.3(BRCA1):c.2378dupA (p.Ala794Glyfs) http://identifiers.org/clinvar/220277 ^@ NM_007294.3(BRCA1):c.1998A>G (p.Leu666=) http://identifiers.org/clinvar/219809 ^@ NM_007294.3(BRCA1):c.1873C>T (p.Leu625=) http://identifiers.org/clinvar/220280 ^@ NM_007294.3(BRCA1):c.1294C>T (p.Leu432=) http://identifiers.org/clinvar/221036 ^@ NM_007294.3(BRCA1):c.1135A>G (p.Ile379Val) http://identifiers.org/clinvar/219860 ^@ NM_007294.3(BRCA1):c.951A>G (p.Gln317=) http://identifiers.org/clinvar/219917 ^@ NM_007294.3(BRCA1):c.594-18T>C http://identifiers.org/clinvar/220026 ^@ NM_007294.3(BRCA1):c.531dupT (p.Val178Cysfs) http://identifiers.org/clinvar/219804 ^@ NM_007294.3(BRCA1):c.465A>C (p.Gln155His) http://identifiers.org/clinvar/220023 ^@ NM_007294.3(BRCA1):c.441G>C (p.Leu147Phe) http://identifiers.org/clinvar/219502 ^@ NM_007294.3(BRCA1):c.382A>G (p.Met128Val) http://identifiers.org/clinvar/221074 ^@ NM_007294.3(BRCA1):c.301+19A>G http://identifiers.org/clinvar/220258 ^@ NM_007294.3(BRCA1):c.287A>G (p.Asp96Gly) http://identifiers.org/clinvar/221064 ^@ NM_007294.3(BRCA1):c.212+17T>C http://identifiers.org/clinvar/219742 ^@ NM_007294.3(BRCA1):c.107C>A (p.Ser36Tyr) http://identifiers.org/clinvar/220462 ^@ NM_007294.3(BRCA1):c.81-18C>A http://identifiers.org/clinvar/220318 ^@ NM_007294.3(BRCA1):c.80+17G>A http://identifiers.org/clinvar/220047 ^@ NM_017777.3(MKS1):c.1609C>T (p.Arg537Cys) http://identifiers.org/clinvar/219658 ^@ NM_017777.3(MKS1):c.1175C>T (p.Pro392Leu) http://identifiers.org/clinvar/219548 ^@ NM_058216.2(RAD51C):c.-3G>A http://identifiers.org/clinvar/220288 ^@ NM_058216.2(RAD51C):c.78G>A (p.Lys26=) http://identifiers.org/clinvar/220560 ^@ NM_058216.2(RAD51C):c.443T>C (p.Phe148Ser) http://identifiers.org/clinvar/220285 ^@ NM_058216.2(RAD51C):c.485G>A (p.Gly162Glu) http://identifiers.org/clinvar/219853 ^@ NM_058216.2(RAD51C):c.520A>G (p.Thr174Ala) http://identifiers.org/clinvar/219586 ^@ NM_058216.2(RAD51C):c.710G>A (p.Arg237Gln) http://identifiers.org/clinvar/220508 ^@ NM_058216.2(RAD51C):c.748C>T (p.His250Tyr) http://identifiers.org/clinvar/220140 ^@ NM_058216.2(RAD51C):c.960G>C (p.Lys320Asn) http://identifiers.org/clinvar/220011 ^@ NM_058216.2(RAD51C):c.964A>C (p.Arg322=) http://identifiers.org/clinvar/220706 ^@ NM_058216.2(RAD51C):c.1126T>A (p.Leu376Ile) http://identifiers.org/clinvar/220245 ^@ NM_032043.2(BRIP1):c.3507C>A (p.Asp1169Glu) http://identifiers.org/clinvar/219832 ^@ NM_032043.2(BRIP1):c.3431A>G (p.Glu1144Gly) http://identifiers.org/clinvar/220899 ^@ NM_032043.2(BRIP1):c.3401delC (p.Pro1134Leufs) http://identifiers.org/clinvar/219402 ^@ NM_032043.2(BRIP1):c.3299A>T (p.Asp1100Val) http://identifiers.org/clinvar/219865 ^@ NM_032043.2(BRIP1):c.3266C>G (p.Ser1089Cys) http://identifiers.org/clinvar/219482 ^@ NM_032043.2(BRIP1):c.3227C>T (p.Ser1076Leu) http://identifiers.org/clinvar/219802 ^@ NM_032043.2(BRIP1):c.3117G>A (p.Glu1039=) http://identifiers.org/clinvar/220681 ^@ NM_032043.2(BRIP1):c.2929G>C (p.Ala977Pro) http://identifiers.org/clinvar/219645 ^@ NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser) http://identifiers.org/clinvar/219666 ^@ NM_032043.2(BRIP1):c.2609A>C (p.His870Pro) http://identifiers.org/clinvar/219556 ^@ NM_032043.2(BRIP1):c.2325T>G (p.Asn775Lys) http://identifiers.org/clinvar/219992 ^@ NM_032043.2(BRIP1):c.2268C>T (p.Leu756=) http://identifiers.org/clinvar/220629 ^@ NM_032043.2(BRIP1):c.2114_2118delAAGAA (p.Lys705Thrfs) http://identifiers.org/clinvar/221169 ^@ NM_032043.2(BRIP1):c.2098-10C>T http://identifiers.org/clinvar/220217 ^@ NM_032043.2(BRIP1):c.1946G>C (p.Gly649Ala) http://identifiers.org/clinvar/220248 ^@ NM_032043.2(BRIP1):c.1867T>A (p.Phe623Ile) http://identifiers.org/clinvar/220014 ^@ NM_032043.2(BRIP1):c.1838C>T (p.Thr613Ile) http://identifiers.org/clinvar/219555 ^@ NM_032043.2(BRIP1):c.1787C>T (p.Pro596Leu) http://identifiers.org/clinvar/219544 ^@ NM_032043.2(BRIP1):c.1652C>A (p.Ala551Glu) http://identifiers.org/clinvar/219688 ^@ NM_032043.2(BRIP1):c.1609C>G (p.Leu537Val) http://identifiers.org/clinvar/219552 ^@ NM_032043.2(BRIP1):c.1591T>G (p.Phe531Val) http://identifiers.org/clinvar/220601 ^@ NM_032043.2(BRIP1):c.1341-3C>G http://identifiers.org/clinvar/220216 ^@ NM_032043.2(BRIP1):c.1263A>G (p.Glu421=) http://identifiers.org/clinvar/220088 ^@ NM_032043.2(BRIP1):c.1059C>T (p.Tyr353=) http://identifiers.org/clinvar/219458 ^@ NM_032043.2(BRIP1):c.972A>T (p.Thr324=) http://identifiers.org/clinvar/219758 ^@ NM_032043.2(BRIP1):c.958delA (p.Ser320Valfs) http://identifiers.org/clinvar/219582 ^@ NM_032043.2(BRIP1):c.866delT (p.Val289Alafs) http://identifiers.org/clinvar/220398 ^@ NM_032043.2(BRIP1):c.630C>T (p.Pro210=) http://identifiers.org/clinvar/219850 ^@ NM_032043.2(BRIP1):c.508-1G>C http://identifiers.org/clinvar/219651 ^@ NM_032043.2(BRIP1):c.293A>G (p.Asn98Ser) http://identifiers.org/clinvar/220804 ^@ NM_032043.2(BRIP1):c.246A>G (p.Val82=) http://identifiers.org/clinvar/220937 ^@ NM_004655.3(AXIN2):c.2124G>C (p.Ser708=) http://identifiers.org/clinvar/220696 ^@ NM_004655.3(AXIN2):c.1713C>T (p.Gly571=) http://identifiers.org/clinvar/220783 ^@ NM_004655.3(AXIN2):c.1547A>G (p.His516Arg) http://identifiers.org/clinvar/219878 ^@ NM_000891.2(KCNJ2):c.407_409delCCAinsTTT (p.Ser136_Ile137delinsPhePhe) http://identifiers.org/clinvar/220903 ^@ NM_000546.5(TP53):c.1032G>A (p.Leu344=) http://identifiers.org/clinvar/220073 ^@ NM_000546.5(TP53):c.1023C>T (p.Phe341=) http://identifiers.org/clinvar/219969 ^@ NM_000546.5(TP53):c.932A>C (p.Asn311Thr) http://identifiers.org/clinvar/219416 ^@ NM_000546.5(TP53):c.782+6delG http://identifiers.org/clinvar/219796 ^@ NM_000546.5(TP53):c.732C>T (p.Gly244=) http://identifiers.org/clinvar/219759 ^@ NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) http://identifiers.org/clinvar/221184 ^@ NM_000546.5(TP53):c.673-36G>C http://identifiers.org/clinvar/219487 ^@ NM_000546.5(TP53):c.520A>G (p.Arg174Gly) http://identifiers.org/clinvar/220778 ^@ NM_000546.5(TP53):c.504C>T (p.His168=) http://identifiers.org/clinvar/219532 ^@ NM_000546.5(TP53):c.380C>G (p.Ser127Cys) http://identifiers.org/clinvar/219841 ^@ NM_000546.5(TP53):c.207T>C (p.Ala69=) http://identifiers.org/clinvar/220942 ^@ NM_000546.5(TP53):c.97-6C>T http://identifiers.org/clinvar/219955 ^@ NM_017950.3(CCDC40):c.1726C>G (p.Gln576Glu) http://identifiers.org/clinvar/220092 ^@ NM_017950.3(CCDC40):c.2608C>T (p.Arg870Cys) http://identifiers.org/clinvar/219643 ^@ NM_017950.3(CCDC40):c.3181-2A>G http://identifiers.org/clinvar/220732 ^@ NM_003803.3(MYOM1):c.4007A>T (p.Asp1336Val) http://identifiers.org/clinvar/220972 ^@ NM_024422.4(DSC2):c.818C>T (p.Pro273Leu) http://identifiers.org/clinvar/220589 ^@ NM_003803.3(MYOM1):c.2727G>A (p.Pro909=) http://identifiers.org/clinvar/219871 ^@ NM_005359.5(SMAD4):c.-9C>G http://identifiers.org/clinvar/219454 ^@ NM_005359.5(SMAD4):c.454+8A>T http://identifiers.org/clinvar/219690 ^@ NM_005359.5(SMAD4):c.460T>G (p.Ser154Ala) http://identifiers.org/clinvar/220122 ^@ NM_005359.5(SMAD4):c.606C>G (p.Ala202=) http://identifiers.org/clinvar/219504 ^@ NM_005359.5(SMAD4):c.910G>A (p.Val304Ile) http://identifiers.org/clinvar/220195 ^@ NM_005359.5(SMAD4):c.924T>C (p.Leu308=) http://identifiers.org/clinvar/219862 ^@ NM_005359.5(SMAD4):c.955+7G>A http://identifiers.org/clinvar/220224 ^@ NM_005359.5(SMAD4):c.1423G>C (p.Val475Leu) http://identifiers.org/clinvar/221073 ^@ NM_005359.5(SMAD4):c.1444A>G (p.Ile482Val) http://identifiers.org/clinvar/219788 ^@ NM_005359.5(SMAD4):c.1512delT (p.Phe505Leufs) http://identifiers.org/clinvar/219703 ^@ NM_001005360.2(DNM2):c.555C>T (p.Asp185=) http://identifiers.org/clinvar/220949 ^@ NM_001128849.1(SMARCA4):c.326C>T (p.Pro109Leu) http://identifiers.org/clinvar/220638 ^@ NM_001128849.1(SMARCA4):c.442G>A (p.Gly148Arg) http://identifiers.org/clinvar/220774 ^@ NM_001128849.1(SMARCA4):c.452G>T (p.Gly151Val) http://identifiers.org/clinvar/221046 ^@ NM_001128849.1(SMARCA4):c.859+7T>A http://identifiers.org/clinvar/220832 ^@ NM_001128849.1(SMARCA4):c.960C>T (p.Pro320=) http://identifiers.org/clinvar/220684 ^@ NM_001128849.1(SMARCA4):c.1006C>A (p.Pro336Thr) http://identifiers.org/clinvar/220616 ^@ NM_001128849.1(SMARCA4):c.1007C>T (p.Pro336Leu) http://identifiers.org/clinvar/220871 ^@ NM_001128849.1(SMARCA4):c.1060C>T (p.Pro354Ser) http://identifiers.org/clinvar/221154 ^@ NM_001128849.1(SMARCA4):c.1419+4C>T http://identifiers.org/clinvar/220892 ^@ NM_001128849.1(SMARCA4):c.2022G>T (p.Pro674=) http://identifiers.org/clinvar/220858 ^@ NM_001128849.1(SMARCA4):c.2388C>T (p.Leu796=) http://identifiers.org/clinvar/220824 ^@ NM_001128849.1(SMARCA4):c.3383-5G>A http://identifiers.org/clinvar/220922 ^@ NM_001128849.1(SMARCA4):c.4011C>T (p.Leu1337=) http://identifiers.org/clinvar/220887 ^@ NM_001128849.1(SMARCA4):c.4187A>T (p.Asp1396Val) http://identifiers.org/clinvar/220671 ^@ NM_001128849.1(SMARCA4):c.4284G>T (p.Thr1428=) http://identifiers.org/clinvar/221084 ^@ NM_001128849.1(SMARCA4):c.4368G>A (p.Pro1456=) http://identifiers.org/clinvar/220888 ^@ NM_001128849.1(SMARCA4):c.4398C>T (p.Asp1466=) http://identifiers.org/clinvar/221035 ^@ NM_001128849.1(SMARCA4):c.4406_4407delGCinsAA (p.Ser1469Lys) http://identifiers.org/clinvar/221005 ^@ NM_145045.4(CCDC151):c.173T>C (p.Phe58Ser) http://identifiers.org/clinvar/221001 ^@ NM_000455.4(STK11):c.85A>T (p.Ile29Phe) http://identifiers.org/clinvar/219618 ^@ NM_000455.4(STK11):c.227C>T (p.Ala76Val) http://identifiers.org/clinvar/219457 ^@ NM_000455.4(STK11):c.290+10G>C http://identifiers.org/clinvar/220927 ^@ NM_000455.4(STK11):c.291-3C>T http://identifiers.org/clinvar/219936 ^@ NM_000455.4(STK11):c.306G>C (p.Leu102=) http://identifiers.org/clinvar/220485 ^@ NM_000455.4(STK11):c.312G>C (p.Arg104Ser) http://identifiers.org/clinvar/219451 ^@ NM_000455.4(STK11):c.355A>G (p.Asn119Asp) http://identifiers.org/clinvar/220548 ^@ NM_000455.4(STK11):c.363G>A (p.Glu121=) http://identifiers.org/clinvar/220968 ^@ NM_000455.4(STK11):c.394delT (p.Cys132Alafs) http://identifiers.org/clinvar/219938 ^@ NM_000455.4(STK11):c.465-7C>T http://identifiers.org/clinvar/219507 ^@ NM_000455.4(STK11):c.735-3A>G http://identifiers.org/clinvar/220351 ^@ NM_000455.4(STK11):c.923G>T (p.Trp308Leu) http://identifiers.org/clinvar/219902 ^@ NM_000455.4(STK11):c.946G>C (p.Ala316Pro) http://identifiers.org/clinvar/220714 ^@ NM_000455.4(STK11):c.980A>G (p.Asp327Gly) http://identifiers.org/clinvar/219493 ^@ NM_000455.4(STK11):c.1031T>C (p.Leu344Pro) http://identifiers.org/clinvar/219713 ^@ NM_000455.4(STK11):c.1109-3C>T http://identifiers.org/clinvar/221135 ^@ NM_000455.4(STK11):c.1212C>A (p.Ser404=) http://identifiers.org/clinvar/220585 ^@ NM_000455.4(STK11):c.1217C>T (p.Ala406Val) http://identifiers.org/clinvar/219592 ^@ NM_000455.4(STK11):c.1230C>T (p.Ala410=) http://identifiers.org/clinvar/220264 ^@ NM_000455.4(STK11):c.1243C>G (p.Arg415Gly) http://identifiers.org/clinvar/219441 ^@ NM_000455.4(STK11):c.1264_1265delAGinsCC (p.Ser422Pro) http://identifiers.org/clinvar/220787 ^@ NM_145046.4(CALR3):c.861G>A (p.Thr287=) http://identifiers.org/clinvar/220700 ^@ NM_145046.4(CALR3):c.398-6T>C http://identifiers.org/clinvar/220404 ^@ NM_001492.5(GDF1):c.925T>C (p.Ser309Pro) http://identifiers.org/clinvar/219838 ^@ NM_021175.3(HAMP):c.150+6C>T http://identifiers.org/clinvar/219770 ^@ NM_021175.3(HAMP):c.252G>A (p.Thr84=) http://identifiers.org/clinvar/220167 ^@ NM_181882.2(PRX):c.3352G>T (p.Val1118Phe) http://identifiers.org/clinvar/220724 ^@ NM_181882.2(PRX):c.1216G>A (p.Ala406Thr) http://identifiers.org/clinvar/220690 ^@ NM_181882.2(PRX):c.1051C>T (p.Pro351Ser) http://identifiers.org/clinvar/220734 ^@ NM_017636.3(TRPM4):c.58T>A (p.Cys20Ser) http://identifiers.org/clinvar/220959 ^@ NM_017636.3(TRPM4):c.301G>A (p.Ala101Thr) http://identifiers.org/clinvar/220960 ^@ NM_017636.3(TRPM4):c.306T>G (p.Val102=) http://identifiers.org/clinvar/221063 ^@ NM_017636.3(TRPM4):c.322C>T (p.Arg108Cys) http://identifiers.org/clinvar/220961 ^@ NM_017636.3(TRPM4):c.783G>A (p.Lys261=) http://identifiers.org/clinvar/220541 ^@ NM_030973.3(MED25):c.247C>G (p.Gln83Glu) http://identifiers.org/clinvar/221177 ^@ NM_030973.3(MED25):c.1483-7C>T http://identifiers.org/clinvar/220933 ^@ NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) http://identifiers.org/clinvar/221058 ^@ NM_030973.3(MED25):c.2088G>A (p.Leu696=) http://identifiers.org/clinvar/221055 ^@ NM_001256849.1(POLD1):c.56G>A (p.Arg19His) http://identifiers.org/clinvar/221163 ^@ NM_002691.3(POLD1):c.88C>T (p.Arg30Trp) http://identifiers.org/clinvar/220913 ^@ NM_002691.3(POLD1):c.324G>T (p.Ala108=) http://identifiers.org/clinvar/220970 ^@ NM_002691.3(POLD1):c.371T>C (p.Val124Ala) http://identifiers.org/clinvar/221116 ^@ NM_002691.3(POLD1):c.376C>T (p.Arg126Cys) http://identifiers.org/clinvar/221130 ^@ NM_002691.3(POLD1):c.378C>T (p.Arg126=) http://identifiers.org/clinvar/220691 ^@ NM_002691.3(POLD1):c.384C>T (p.Phe128=) http://identifiers.org/clinvar/221138 ^@ NM_002691.3(POLD1):c.433G>A (p.Ala145Thr) http://identifiers.org/clinvar/221053 ^@ NM_002691.3(POLD1):c.463+8_463+9delGCinsTT http://identifiers.org/clinvar/221171 ^@ NM_002691.3(POLD1):c.496C>T (p.Arg166Trp) http://identifiers.org/clinvar/220850 ^@ NM_002691.3(POLD1):c.674G>A (p.Arg225His) http://identifiers.org/clinvar/220847 ^@ NM_002691.3(POLD1):c.714G>A (p.Thr238=) http://identifiers.org/clinvar/221166 ^@ NM_002691.3(POLD1):c.773C>T (p.Thr258Met) http://identifiers.org/clinvar/221152 ^@ NM_002691.3(POLD1):c.778A>G (p.Ile260Val) http://identifiers.org/clinvar/220697 ^@ NM_002691.3(POLD1):c.849G>T (p.Gln283His) http://identifiers.org/clinvar/221136 ^@ NM_002691.3(POLD1):c.961G>A (p.Gly321Ser) http://identifiers.org/clinvar/220754 ^@ NM_002691.3(POLD1):c.1138-8A>G http://identifiers.org/clinvar/220965 ^@ NM_002691.3(POLD1):c.1275C>T (p.Ala425=) http://identifiers.org/clinvar/220859 ^@ NM_002691.3(POLD1):c.1608G>A (p.Ala536=) http://identifiers.org/clinvar/220890 ^@ NM_002691.3(POLD1):c.1620C>T (p.Gly540=) http://identifiers.org/clinvar/220860 ^@ NM_002691.3(POLD1):c.1686+10C>T http://identifiers.org/clinvar/220950 ^@ NM_002691.3(POLD1):c.1761C>T (p.Ile587=) http://identifiers.org/clinvar/220886 ^@ NM_002691.3(POLD1):c.1795G>A (p.Ala599Thr) http://identifiers.org/clinvar/221165 ^@ NM_002691.3(POLD1):c.1977C>T (p.Ile659=) http://identifiers.org/clinvar/220938 ^@ NM_002691.3(POLD1):c.2017G>A (p.Glu673Lys) http://identifiers.org/clinvar/221139 ^@ NM_002691.3(POLD1):c.2100A>G (p.Val700=) http://identifiers.org/clinvar/221038 ^@ NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) http://identifiers.org/clinvar/221172 ^@ NM_002691.3(POLD1):c.2301G>A (p.Ser767=) http://identifiers.org/clinvar/220865 ^@ NM_002691.3(POLD1):c.2546G>A (p.Arg849His) http://identifiers.org/clinvar/220703 ^@ NM_002691.3(POLD1):c.2628C>T (p.Ile876=) http://identifiers.org/clinvar/221052 ^@ NM_002691.3(POLD1):c.2862G>C (p.Thr954=) http://identifiers.org/clinvar/220823 ^@ NM_002691.3(POLD1):c.2967G>A (p.Thr989=) http://identifiers.org/clinvar/221173 ^@ NM_002691.3(POLD1):c.3159C>T (p.Arg1053=) http://identifiers.org/clinvar/220966 ^@ NM_002691.3(POLD1):c.3218+9_3218+10invCA http://identifiers.org/clinvar/220958 ^@ NM_003098.2(SNTA1):c.828G>A (p.Lys276=) http://identifiers.org/clinvar/220441 ^@ NM_020433.4(JPH2):c.562C>T (p.Pro188Ser) http://identifiers.org/clinvar/220906 ^@ NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT (p.Gly279Glnfs) http://identifiers.org/clinvar/220786 ^@ NM_007194.3(CHEK2):c.684-?_*154+?dup http://identifiers.org/clinvar/219387 ^@ NM_007194.3(CHEK2):c.1623T>C (p.Ala541=) http://identifiers.org/clinvar/220105 ^@ NM_007194.3(CHEK2):c.1410T>C (p.Asp470=) http://identifiers.org/clinvar/220179 ^@ NM_007194.3(CHEK2):c.1154G>A (p.Cys385Tyr) http://identifiers.org/clinvar/220097 ^@ NM_007194.3(CHEK2):c.1070C>T (p.Ser357Phe) http://identifiers.org/clinvar/220465 ^@ NM_007194.3(CHEK2):c.1033C>T (p.His345Tyr) http://identifiers.org/clinvar/220075 ^@ NM_007194.3(CHEK2):c.1000G>A (p.Ala334Thr) http://identifiers.org/clinvar/219748 ^@ NM_007194.3(CHEK2):c.909-10T>G http://identifiers.org/clinvar/219655 ^@ NM_007194.3(CHEK2):c.908+6T>C http://identifiers.org/clinvar/219543 ^@ NM_007194.3(CHEK2):c.846+1G>C http://identifiers.org/clinvar/220480 ^@ NM_007194.3(CHEK2):c.792+2T>C http://identifiers.org/clinvar/219950 ^@ NM_007194.3(CHEK2):c.714C>T (p.Phe238=) http://identifiers.org/clinvar/219820 ^@ NM_007194.3(CHEK2):c.665T>C (p.Met222Thr) http://identifiers.org/clinvar/219529 ^@ NM_007194.3(CHEK2):c.557A>G (p.Asn186Ser) http://identifiers.org/clinvar/220904 ^@ NM_007194.3(CHEK2):c.533G>A (p.Gly178Glu) http://identifiers.org/clinvar/220278 ^@ NM_007194.3(CHEK2):c.480_483dupAGAA (p.Asp162Argfs) http://identifiers.org/clinvar/220029 ^@ NM_007194.3(CHEK2):c.473C>T (p.Ala158Val) http://identifiers.org/clinvar/220246 ^@ NM_007194.3(CHEK2):c.444+5G>C http://identifiers.org/clinvar/220477 ^@ NM_007194.3(CHEK2):c.377A>G (p.Asp126Gly) http://identifiers.org/clinvar/220632 ^@ NM_007194.3(CHEK2):c.320-1G>C http://identifiers.org/clinvar/220879 ^@ NM_007194.3(CHEK2):c.194C>G (p.Thr65Arg) http://identifiers.org/clinvar/219642 ^@ NM_007194.3(CHEK2):c.146C>T (p.Ser49Phe) http://identifiers.org/clinvar/220067 ^@ NM_007194.3(CHEK2):c.15G>A (p.Ser5=) http://identifiers.org/clinvar/220658 ^@ NM_000533.4(PLP1):c.-31C>T http://identifiers.org/clinvar/219649 ^@ NM_000533.4(PLP1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/219659 ^@ NM_003611.2(OFD1):c.355C>A (p.Pro119Thr) http://identifiers.org/clinvar/220124 ^@ NM_003611.2(OFD1):c.1007dupA (p.Ser337Glufs) http://identifiers.org/clinvar/220986 ^@ NM_001456.3(FLNA):c.7035T>G (p.Phe2345Leu) http://identifiers.org/clinvar/221026 ^@ NM_000116.4(TAZ):c.584-7delT http://identifiers.org/clinvar/220794 ^@ NM_005120.2(MED12):c.4028G>A (p.Arg1343His) http://identifiers.org/clinvar/220932 ^@ NM_000166.5(GJB1):c.235C>T (p.Leu79=) http://identifiers.org/clinvar/219704 ^@ NM_000166.5(GJB1):c.644G>C (p.Arg215Pro) http://identifiers.org/clinvar/221204 ^@ NM_000202.7(IDS):c.1433A>G (p.Asp478Gly) http://identifiers.org/clinvar/242445 ^@ NM_000202.7(IDS):c.1394A>T (p.Gln465Leu) http://identifiers.org/clinvar/221202 ^@ NM_000202.7(IDS):c.1393C>T (p.Gln465Ter) http://identifiers.org/clinvar/221218 ^@ NM_000202.7(IDS):c.1181-1G>A http://identifiers.org/clinvar/221201 ^@ NM_000202.7(IDS):c.1033T>A (p.Trp345Arg) http://identifiers.org/clinvar/221200 ^@ NM_000202.7(IDS):c.1016T>C (p.Leu339Pro) http://identifiers.org/clinvar/221213 ^@ NM_000202.7(IDS):c.935G>A (p.Gly312Asp) http://identifiers.org/clinvar/221217 ^@ NM_000202.7(IDS):c.908_909delCT (p.Ser303Cysfs) http://identifiers.org/clinvar/221212 ^@ NM_000202.7(IDS):c.884A>T (p.Lys295Ile) http://identifiers.org/clinvar/221214 ^@ NM_000202.7(IDS):c.820G>T (p.Glu274Ter) http://identifiers.org/clinvar/221221 ^@ NM_000202.7(IDS):c.708+1G>A http://identifiers.org/clinvar/221211 ^@ NM_000202.7(IDS):c.683C>A (p.Pro228Gln) http://identifiers.org/clinvar/221223 ^@ NM_000202.7(IDS):c.613G>C (p.Ala205Pro) http://identifiers.org/clinvar/221210 ^@ NM_000202.7(IDS):c.592G>A (p.Asp198Asn) http://identifiers.org/clinvar/221220 ^@ NM_000202.7(IDS):c.508-1G>A http://identifiers.org/clinvar/221209 ^@ NM_000202.7(IDS):c.469C>T (p.Pro157Ser) http://identifiers.org/clinvar/221208 ^@ NM_000202.7(IDS):c.425C>A (p.Ser142Tyr) http://identifiers.org/clinvar/221216 ^@ NM_000202.7(IDS):c.411delT (p.His138Thrfs) http://identifiers.org/clinvar/221207 ^@ NM_000202.7(IDS):c.401G>A (p.Gly134Glu) http://identifiers.org/clinvar/221206 ^@ NM_000202.7(IDS):c.359C>A (p.Pro120His) http://identifiers.org/clinvar/221219 ^@ NM_000202.7(IDS):c.241-5A>T http://identifiers.org/clinvar/221222 ^@ NM_000202.7(IDS):c.191T>A (p.Ile64Asn) http://identifiers.org/clinvar/221205 ^@ NM_000202.7(IDS):c.181T>C (p.Ser61Pro) http://identifiers.org/clinvar/221215 ^@ NM_000202.7(IDS):c.22_37del16 (p.Arg8Trpfs) http://identifiers.org/clinvar/221224 ^@ NC_000007.13:g.147518609_147807856del289248 http://identifiers.org/clinvar/221225 ^@ NM_002140.4(HNRNPK):c.931_932insTT (p.Pro311Leufs) http://identifiers.org/clinvar/221226 ^@ NM_001001438.2(LSS):c.1762G>A (p.Gly588Ser) http://identifiers.org/clinvar/221227 ^@ NM_001001438.2(LSS):c.1741T>C (p.Trp581Arg) http://identifiers.org/clinvar/221228 ^@ NM_002775.4(HTRA1):c.497G>T (p.Arg166Leu) http://identifiers.org/clinvar/221229 ^@ NM_002775.4(HTRA1):c.517G>C (p.Ala173Pro) http://identifiers.org/clinvar/221230 ^@ NM_002775.4(HTRA1):c.852C>A (p.Ser284Arg) http://identifiers.org/clinvar/221231 ^@ NM_002775.4(HTRA1):c.973_1005del33 http://identifiers.org/clinvar/221232 ^@ NM_005879.2(TRAIP):c.553C>T (p.Arg185Ter) http://identifiers.org/clinvar/221233 ^@ NM_005879.2(TRAIP):c.52C>T (p.Arg18Cys) http://identifiers.org/clinvar/221263 ^@ NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) http://identifiers.org/clinvar/221262 ^@ NM_000334.4(SCN4A):c.4342C>A (p.Arg1448Ser) http://identifiers.org/clinvar/221261 ^@ NM_000334.4(SCN4A):c.1320T>G (p.Asn440Lys) http://identifiers.org/clinvar/221267 ^@ NM_015073.2(SIPA1L3):c.442G>T (p.Asp148Tyr) http://identifiers.org/clinvar/221268 ^@ NM_177987.2(TUBB8):c.686T>C (p.Val229Ala) http://identifiers.org/clinvar/221269 ^@ NM_177987.2(TUBB8):c.1249G>A (p.Asp417Asn) http://identifiers.org/clinvar/221270 ^@ NM_177987.2(TUBB8):c.5G>A (p.Arg2Lys) http://identifiers.org/clinvar/221271 ^@ NM_001009994.2(RIPPLY2):c.238A>T (p.Arg80Ter) http://identifiers.org/clinvar/221272 ^@ NM_001009994.2(RIPPLY2):c.240-4T>G http://identifiers.org/clinvar/221274 ^@ NM_014704.3(CEP104):c.735+2T>C http://identifiers.org/clinvar/221275 ^@ NM_014704.3(CEP104):c.1328_1329insT (p.Tyr444Leufs) http://identifiers.org/clinvar/221276 ^@ NM_014704.3(CEP104):c.496C>T (p.Arg166Ter) http://identifiers.org/clinvar/221277 ^@ NM_014704.3(CEP104):c.2572-2A>G http://identifiers.org/clinvar/221278 ^@ NM_004656.3(BAP1):c.1717delC (p.Leu573Trpfs) http://identifiers.org/clinvar/242444 ^@ NM_022172.2(PC):c.2095G>T (p.Val699Leu) http://identifiers.org/clinvar/242443 ^@ NM_022172.2(PC):c.2095G>A (p.Val699Met) http://identifiers.org/clinvar/221280 ^@ NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) http://identifiers.org/clinvar/221281 ^@ NM_000520.5(HEXA):c.964G>T (p.Asp322Tyr) http://identifiers.org/clinvar/221282 ^@ NM_000391.3(TPP1):c.456G>C (p.Arg152Ser) http://identifiers.org/clinvar/221283 ^@ NM_007174.2(CIT):c.29_38delATCCTTTGGA (p.Asn10Metfs) http://identifiers.org/clinvar/221284 ^@ NM_004628.4(XPC):c.2034-1G>A http://identifiers.org/clinvar/221285 ^@ NM_003201.2(TFAM):c.533C>T (p.Pro178Leu) http://identifiers.org/clinvar/221286 ^@ NM_018699.3(PRDM5):c.877A>G (p.Lys293Glu) http://identifiers.org/clinvar/222952 ^@ NM_021939.3(FKBP10):c.976delA (p.Met326Trpfs) http://identifiers.org/clinvar/221288 ^@ NM_138281.2(DLX4):c.546delG (p.Gln183Argfs) http://identifiers.org/clinvar/221289 ^@ NM_020771.3(HACE1):c.655C>T (p.Arg219Ter) http://identifiers.org/clinvar/221290 ^@ NM_020771.3(HACE1):c.2242C>T (p.Arg748Ter) http://identifiers.org/clinvar/221291 ^@ NM_020771.3(HACE1):c.2019_2020insTTTAGGTATTTTTAGGTATT (p.Pro674Phefs) http://identifiers.org/clinvar/221292 ^@ NM_020771.3(HACE1):c.2490_2492delTCT (p.Leu832del) http://identifiers.org/clinvar/221293 ^@ NM_020771.3(HACE1):c.1852_1853delCA (p.Gln618Valfs) http://identifiers.org/clinvar/221294 ^@ NM_020771.3(HACE1):c.454C>T (p.Gln152Ter) http://identifiers.org/clinvar/221295 ^@ NM_020771.3(HACE1):c.805C>T (p.Arg269Ter) http://identifiers.org/clinvar/221296 ^@ NM_020771.3(HACE1):c.240C>A (p.Cys80Ter) http://identifiers.org/clinvar/221297 ^@ NM_203342.2(EPB41):c.444_450delGAATCAG (p.Asn149Profs) http://identifiers.org/clinvar/221298 ^@ NM_001270805.1(SYT6):c.1216G>A (p.Ala406Thr) http://identifiers.org/clinvar/221299 ^@ NM_020923.2(ZDBF2):c.5795G>A (p.Arg1932His) http://identifiers.org/clinvar/221300 ^@ NM_018023.4(YEATS2):c.3131C>T (p.Pro1044Leu) http://identifiers.org/clinvar/221301 ^@ NM_001304333.2(PHF24):c.242G>A (p.Arg81Gln) http://identifiers.org/clinvar/221302 ^@ NM_020893.3(CCDC180):c.1975C>G (p.Pro659Ala) http://identifiers.org/clinvar/221303 ^@ NM_020348.2(CNNM1):c.957G>C (p.Glu319Asp) http://identifiers.org/clinvar/221304 ^@ NM_014632.3(MICAL2):c.3131A>G (p.Asp1044Gly) http://identifiers.org/clinvar/221305 ^@ NM_001161630.1(KDM4E):c.1493A>G (p.Asn498Ser) http://identifiers.org/clinvar/221306 ^@ NM_004616.2(TSPAN8):c.528T>A (p.Asp176Glu) http://identifiers.org/clinvar/221307 ^@ NM_032854.3(CORO6):c.1348G>A (p.Val450Met) http://identifiers.org/clinvar/221308 ^@ NM_000435.2(NOTCH3):c.5161T>A (p.Trp1721Arg) http://identifiers.org/clinvar/221309 ^@ NM_015692.2(CPAMD8):c.4156G>A (p.Ala1386Thr) http://identifiers.org/clinvar/221310 ^@ NM_001329517.1(ZNF420):c.149A>G (p.Asn50Ser) http://identifiers.org/clinvar/221311 ^@ NM_015428.3(ZNF473):c.2359A>T (p.Arg787Ter) http://identifiers.org/clinvar/221312 ^@ NM_198696.2(KRTAP10-3):c.7A>G (p.Thr3Ala) http://identifiers.org/clinvar/221313 ^@ NM_175884.5(CCDC71L):c.478A>C (p.Ser160Arg) http://identifiers.org/clinvar/221314 ^@ NM_013247.4(HTRA2):c.695T>A (p.Leu232Gln) http://identifiers.org/clinvar/221315 ^@ NM_004744.4(LRAT):c.78T>A (p.Ser26Arg) http://identifiers.org/clinvar/221316 ^@ NM_006368.4(CREB3):c.823T>G (p.Tyr275Asp) http://identifiers.org/clinvar/221317 ^@ NM_000698.4(ALOX5):c.490T>G (p.Leu164Val) http://identifiers.org/clinvar/221318 ^@ NM_152643.7(KNDC1):c.2914G>T (p.Glu972Ter) http://identifiers.org/clinvar/221319 ^@ NM_033238.2(PML):c.2264G>C (p.Arg755Pro) http://identifiers.org/clinvar/221320 ^@ NM_004491.4(ARHGAP35):c.1959_1960delGCinsAA (p.Pro654Thr) http://identifiers.org/clinvar/221321 ^@ NM_003683.5(RRP1):c.340C>T (p.Arg114Cys) http://identifiers.org/clinvar/221322 ^@ NM_003902.4(FUBP1):c.1611G>A (p.Trp537Ter) http://identifiers.org/clinvar/221323 ^@ NM_001131034.3(RNF212):c.314T>C (p.Leu105Ser) http://identifiers.org/clinvar/221324 ^@ NM_198148.2(CPXM2):c.497G>A (p.Gly166Glu) http://identifiers.org/clinvar/221325 ^@ NM_000719.6(CACNA1C):c.5143C>T (p.Arg1715Trp) http://identifiers.org/clinvar/221326 ^@ NM_005691.3(ABCC9):c.2663G>T (p.Gly888Val) http://identifiers.org/clinvar/221327 ^@ NM_006183.4(NTS):c.185G>A (p.Cys62Tyr) http://identifiers.org/clinvar/221328 ^@ NM_021098.2(CACNA1H):c.1624G>A (p.Glu542Lys) http://identifiers.org/clinvar/221329 ^@ NM_001144.5(AMFR):c.1786C>T (p.Arg596Cys) http://identifiers.org/clinvar/221330 ^@ NM_015001.2(SPEN):c.6997_7012del16 (p.Gln2333Hisfs) http://identifiers.org/clinvar/221331 ^@ NM_003488.3(AKAP1):c.926_946del21 (p.Gly323_Glu329del) http://identifiers.org/clinvar/221332 ^@ NM_032229.2(SLITRK6):c.1915dupT (p.Tyr639Leufs) http://identifiers.org/clinvar/221333 ^@ NM_006269.1(RP1):c.5000delC (p.Arg1668Glyfs) http://identifiers.org/clinvar/221338 ^@ chr6:29910378..30075843 complex variant http://identifiers.org/clinvar/221344 ^@ chr14:104643721..105932775 complex variant http://identifiers.org/clinvar/221347 ^@ chr17:45008570..45994044 complex variant http://identifiers.org/clinvar/221350 ^@ chr19:19230868-24115369 complex variant http://identifiers.org/clinvar/221351 ^@ chr19:36674305-38652962 complex variant http://identifiers.org/clinvar/221352 ^@ chr19:44501518-45322744 complex variant http://identifiers.org/clinvar/221353 ^@ chr19:54754752-55624113 complex variant http://identifiers.org/clinvar/221354 ^@ chr19:56133299..57648277 complex variant http://identifiers.org/clinvar/221355 ^@ chr20:60885242-61929348 complex variant http://identifiers.org/clinvar/221356 ^@ chr21:45970718..47545826 complex variant http://identifiers.org/clinvar/221357 ^@ chr1:909238-16736132 complex variant http://identifiers.org/clinvar/221358 ^@ chr1:16902894-17264939 complex variant http://identifiers.org/clinvar/221359 ^@ chr1:17555508-24706269 complex variant http://identifiers.org/clinvar/221360 ^@ chr1:248525146-248525657 complex variant http://identifiers.org/clinvar/221361 ^@ chr2:130949553-130952725 complex variant http://identifiers.org/clinvar/221362 ^@ chr4:88537276..88537405 complex variant http://identifiers.org/clinvar/221363 ^@ chr6:29910602..29912297 complex variant http://identifiers.org/clinvar/221364 ^@ chr6:31237124-31378388 complex variant http://identifiers.org/clinvar/221365 ^@ chr6:32609097-32629809 complex variant http://identifiers.org/clinvar/221366 ^@ chr9:21187003-21228040 complex variant http://identifiers.org/clinvar/221367 ^@ chr11:1092954..1857751 complex variant http://identifiers.org/clinvar/221368 ^@ chr12:4920767-5603935 complex variant http://identifiers.org/clinvar/221369 ^@ chr12:10074776-18800953 complex variant http://identifiers.org/clinvar/221370 ^@ chr19:55143156-55294969 complex variant http://identifiers.org/clinvar/221371 ^@ chr20:61880169-61908597 complex variant http://identifiers.org/clinvar/221372 ^@ NC_000001.10:g.12780917_13910449del1129533 http://identifiers.org/clinvar/221373 ^@ NC_000001.10:g.16782351_17359598del577248 http://identifiers.org/clinvar/221374 ^@ NC_000001.10:g.21137304_21155703del18400 http://identifiers.org/clinvar/221375 ^@ NC_000001.10:g.26801111_26856444del55334 http://identifiers.org/clinvar/221376 ^@ NC_000001.10:g.160111098_160183245dup72148 http://identifiers.org/clinvar/221377 ^@ NC_000001.10:g.196577392_196971704del394313 http://identifiers.org/clinvar/221378 ^@ NC_000001.10:g.228336115_228559754del223640 http://identifiers.org/clinvar/221379 ^@ NC_000002.11:g.85598271_85843453dup245183 http://identifiers.org/clinvar/221380 ^@ NC_000002.11:g.233243739_233390952del147214 http://identifiers.org/clinvar/221381 ^@ NC_000003.11:g.4726822_5164213dup437392 http://identifiers.org/clinvar/221382 ^@ NC_000003.11:g.48600388_48624921del24534 http://identifiers.org/clinvar/221383 ^@ NC_000005.9:g.60240797_61658323dup1417527 http://identifiers.org/clinvar/221384 ^@ NC_000005.9:g.64817329_64847428dup30100 http://identifiers.org/clinvar/221385 ^@ NC_000006.11:g.10887364_11044463del157100 http://identifiers.org/clinvar/221386 ^@ NC_000007.13:g.149174751_149523266del348516 http://identifiers.org/clinvar/221387 ^@ NC_000009.11:g.138557731_138667209del109479 http://identifiers.org/clinvar/221388 ^@ NC_000011.9:g.850336_1491561del641226 http://identifiers.org/clinvar/221389 ^@ NC_000012.11:g.12419642_13256423dup836782 http://identifiers.org/clinvar/221390 ^@ NC_000016.9:g.97494_1257060dup1159567 http://identifiers.org/clinvar/221391 ^@ NC_000016.9:g.1279324_31926800dup30647477 http://identifiers.org/clinvar/221392 ^@ NC_000016.9:g.46615804_90142285del43526482 http://identifiers.org/clinvar/221393 ^@ NC_000017.10:g.7120452_7165252dup44801 http://identifiers.org/clinvar/221394 ^@ NC_000017.10:g.8017865_8135384dup117520 http://identifiers.org/clinvar/221395 ^@ NC_000017.10:g.9604499_11886670del2282172 http://identifiers.org/clinvar/221396 ^@ NC_000019.9:g.1508506_1510398del1893 http://identifiers.org/clinvar/221397 ^@ NC_000019.9:g.8661944_10104083del1442140 http://identifiers.org/clinvar/221398 ^@ NC_000019.9:g.35516999_35990896dup473898 http://identifiers.org/clinvar/221399 ^@ NC_000019.9:g.36227660_36268769dup41110 http://identifiers.org/clinvar/221400 ^@ NC_000019.9:g.36269222_36353884del84663 http://identifiers.org/clinvar/221401 ^@ NC_000019.9:g.36685995_38708166del2022172 http://identifiers.org/clinvar/221402 ^@ NC_000019.9:g.44466919_45029206del562288 http://identifiers.org/clinvar/221403 ^@ NC_000019.9:g.54647215_54705417dup58203 http://identifiers.org/clinvar/221404 ^@ NC_000019.9:g.54710237_55648526del938290 http://identifiers.org/clinvar/221405 ^@ NC_000019.9:g.56200298_57654005del1453708 http://identifiers.org/clinvar/221406 ^@ NC_000020.10:g.60882468_62045494del1163027 http://identifiers.org/clinvar/221407 ^@ NC_000021.8:g.47270005_47557201del287197 http://identifiers.org/clinvar/221408 ^@ NC_000022.10:g.50318056_50356682dup38627 http://identifiers.org/clinvar/221409 ^@ NC_000001.10:g.11850846_11867218dup16373 http://identifiers.org/clinvar/221410 ^@ NC_000001.10:g.61543299_61548462dup5164 http://identifiers.org/clinvar/221411 ^@ NC_000001.10:g.67327908_67519596dup191689 http://identifiers.org/clinvar/221412 ^@ NC_000001.10:g.84610138_84650825dup40688 http://identifiers.org/clinvar/221413 ^@ NC_000001.10:g.84662362_85035719dup373358 http://identifiers.org/clinvar/221414 ^@ NC_000001.10:g.108115974_108313305dup197332 http://identifiers.org/clinvar/221415 ^@ NC_000001.10:g.113134186_113265713dup131528 http://identifiers.org/clinvar/221416 ^@ NC_000001.10:g.145438928_145527669dup88742 http://identifiers.org/clinvar/221417 ^@ NC_000001.10:g.149783688_150049029dup265342 http://identifiers.org/clinvar/221418 ^@ NC_000001.10:g.150531540_150679158dup147619 http://identifiers.org/clinvar/221419 ^@ NC_000001.10:g.153412418_153604246dup191829 http://identifiers.org/clinvar/221420 ^@ NC_000001.10:g.153742283_153752391dup10109 http://identifiers.org/clinvar/221421 ^@ NC_000001.10:g.215747156_215751043dup3888 http://identifiers.org/clinvar/221422 ^@ NC_000002.11:g.53995091_54042035dup46945 http://identifiers.org/clinvar/221423 ^@ NC_000002.11:g.70043280_70315412dup272133 http://identifiers.org/clinvar/221424 ^@ NC_000002.11:g.71595585_71645751dup50167 http://identifiers.org/clinvar/221425 ^@ NC_000002.11:g.170009392_170072852dup63461 http://identifiers.org/clinvar/221426 ^@ NC_000002.11:g.172379152_172803266dup424115 http://identifiers.org/clinvar/221427 ^@ NC_000002.11:g.182756899_183051256dup294358 http://identifiers.org/clinvar/221428 ^@ NC_000002.11:g.211515125_215797412dup4282288 http://identifiers.org/clinvar/221429 ^@ NC_000002.11:g.219221864_219423299dup201436 http://identifiers.org/clinvar/221430 ^@ NC_000002.11:g.238305415_238742983dup437569 http://identifiers.org/clinvar/221431 ^@ NC_000003.11:g.4706901_5216065dup509165 http://identifiers.org/clinvar/221432 ^@ NC_000003.11:g.48501854_48541490dup39637 http://identifiers.org/clinvar/221433 ^@ NC_000003.11:g.49758015_49829191dup71177 http://identifiers.org/clinvar/221434 ^@ NC_000003.11:g.50273827_50403519dup129693 http://identifiers.org/clinvar/221435 ^@ NC_000003.11:g.172003745_172520446dup516702 http://identifiers.org/clinvar/221436 ^@ NC_000003.11:g.193333511_194338436dup1004926 http://identifiers.org/clinvar/221437 ^@ NC_000004.11:g.68488897_68562395dup73499 http://identifiers.org/clinvar/221438 ^@ NC_000004.11:g.104035661_104119449dup83789 http://identifiers.org/clinvar/221439 ^@ NC_000004.11:g.169325195_169379102dup53908 http://identifiers.org/clinvar/221440 ^@ NC_000004.11:g.170482863_170581561dup98699 http://identifiers.org/clinvar/221441 ^@ NC_000004.11:g.173873299_174090050dup216752 http://identifiers.org/clinvar/221442 ^@ NC_000004.11:g.174254726_174298418dup43693 http://identifiers.org/clinvar/221443 ^@ NC_000005.9:g.37000955_37014827dup13873 http://identifiers.org/clinvar/221444 ^@ NC_000005.9:g.85913910_87524304dup1610395 http://identifiers.org/clinvar/221445 ^@ NC_000005.9:g.121297746_121406237dup108492 http://identifiers.org/clinvar/221446 ^@ NC_000005.9:g.121409786_122337117dup927332 http://identifiers.org/clinvar/221447 ^@ NC_000005.9:g.127469912_127522256dup52345 http://identifiers.org/clinvar/221448 ^@ NC_000005.9:g.172097061_172421802dup324742 http://identifiers.org/clinvar/221449 ^@ NC_000005.9:g.173043321_174953690dup1910370 http://identifiers.org/clinvar/221450 ^@ NC_000006.11:g.26020923_26056336dup35414 http://identifiers.org/clinvar/221451 ^@ NC_000006.11:g.26104332_26365573dup261242 http://identifiers.org/clinvar/221452 ^@ NC_000006.11:g.26545571_27115102dup569532 http://identifiers.org/clinvar/221453 ^@ NC_000006.11:g.27775494_27861432dup85939 http://identifiers.org/clinvar/221454 ^@ NC_000006.11:g.30029374_30036983dup7610 http://identifiers.org/clinvar/221455 ^@ NC_000006.11:g.30698482_30853003dup154522 http://identifiers.org/clinvar/221456 ^@ NC_000006.11:g.33256191_33400523dup144333 http://identifiers.org/clinvar/221457 ^@ NC_000006.11:g.52616441_52622703del6263 http://identifiers.org/clinvar/221458 ^@ NC_000006.11:g.123319117_123837319dup518203 http://identifiers.org/clinvar/221459 ^@ NC_000006.11:g.167412952_167447412dup34461 http://identifiers.org/clinvar/221460 ^@ NC_000007.13:g.70163581_70255359dup91779 http://identifiers.org/clinvar/221461 ^@ NC_000007.13:g.73122969_73256410dup133442 http://identifiers.org/clinvar/221462 ^@ NC_000007.13:g.87840219_91707100dup3866882 http://identifiers.org/clinvar/221463 ^@ NC_000007.13:g.92818582_92963470dup144889 http://identifiers.org/clinvar/221464 ^@ NC_000007.13:g.94156496_94285902dup129407 http://identifiers.org/clinvar/221465 ^@ NC_000008.10:g.17793168_18457910dup664743 http://identifiers.org/clinvar/221466 ^@ NC_000008.10:g.39645687_39694694dup49008 http://identifiers.org/clinvar/221467 ^@ NC_000008.10:g.100871620_101253185dup381566 http://identifiers.org/clinvar/221468 ^@ NC_000009.11:g.79816302_79908341dup92040 http://identifiers.org/clinvar/221469 ^@ NC_000009.11:g.95051642_95264865dup213224 http://identifiers.org/clinvar/221470 ^@ NC_000009.11:g.123939453_123954476dup15024 http://identifiers.org/clinvar/221471 ^@ NC_000010.10:g.18439858_20357134dup1917277 http://identifiers.org/clinvar/221472 ^@ NC_000010.10:g.22193496_22634700dup441205 http://identifiers.org/clinvar/221473 ^@ NC_000010.10:g.27326892_27356151dup29260 http://identifiers.org/clinvar/221474 ^@ NC_000010.10:g.30728036_30900919dup172884 http://identifiers.org/clinvar/221475 ^@ NC_000010.10:g.32323692_37520394dup5196703 http://identifiers.org/clinvar/221476 ^@ NC_000010.10:g.94368870_94715405dup346536 http://identifiers.org/clinvar/221477 ^@ NC_000011.9:g.9042668_9165735dup123068 http://identifiers.org/clinvar/221478 ^@ NC_000011.9:g.22646794_22851268dup204475 http://identifiers.org/clinvar/221479 ^@ NC_000011.9:g.63995089_64012419dup17331 http://identifiers.org/clinvar/221480 ^@ NC_000011.9:g.94696615_95528715dup832101 http://identifiers.org/clinvar/221481 ^@ NC_000011.9:g.111735939_111784393dup48455 http://identifiers.org/clinvar/221482 ^@ NC_000011.9:g.111789713_111857622dup67910 http://identifiers.org/clinvar/221483 ^@ NC_000011.9:g.120169037_120308055dup139019 http://identifiers.org/clinvar/221484 ^@ NC_000011.9:g.124824717_124951727dup127011 http://identifiers.org/clinvar/221485 ^@ NC_000012.11:g.4627993_4665594dup37602 http://identifiers.org/clinvar/221486 ^@ NC_000012.11:g.4881687_5963259del1081573 http://identifiers.org/clinvar/221487 ^@ NC_000012.11:g.9906131_19671632del9765502 http://identifiers.org/clinvar/221488 ^@ NC_000012.11:g.46325342_46765019dup439678 http://identifiers.org/clinvar/221489 ^@ NC_000012.11:g.53421635_53645669dup224035 http://identifiers.org/clinvar/221490 ^@ NC_000012.11:g.76763038_76780400dup17363 http://identifiers.org/clinvar/221491 ^@ NC_000012.11:g.80927874_81503412dup575539 http://identifiers.org/clinvar/221492 ^@ NC_000012.11:g.96422898_98921728dup2498831 http://identifiers.org/clinvar/221493 ^@ NC_000012.11:g.115109877_115120812dup10936 http://identifiers.org/clinvar/221494 ^@ NC_000012.11:g.116399137_116714901dup315765 http://identifiers.org/clinvar/221495 ^@ NC_000014.8:g.20922785_20937690dup14906 http://identifiers.org/clinvar/221496 ^@ NC_000014.8:g.37145530_38064142dup918613 http://identifiers.org/clinvar/221497 ^@ NC_000014.8:g.105936477_105995652dup59176 http://identifiers.org/clinvar/221498 ^@ NC_000015.9:g.39874092_40492503dup618412 http://identifiers.org/clinvar/221499 ^@ NC_000015.9:g.44791968_44852484dup60517 http://identifiers.org/clinvar/221500 ^@ NC_000015.9:g.69079813_72040847dup2961035 http://identifiers.org/clinvar/221501 ^@ NC_000015.9:g.83332342_83495551del163210 http://identifiers.org/clinvar/221502 ^@ NC_000015.9:g.90770832_90777093dup6262 http://identifiers.org/clinvar/221503 ^@ NC_000015.9:g.90931601_90976990dup45390 http://identifiers.org/clinvar/221504 ^@ NC_000015.9:g.91475054_91478581dup3528 http://identifiers.org/clinvar/221505 ^@ NC_000015.9:g.93198718_93536159dup337442 http://identifiers.org/clinvar/221506 ^@ NC_000015.9:g.96869560_99486217dup2616658 http://identifiers.org/clinvar/221507 ^@ NC_000016.9:g.97494_323799dup226306 http://identifiers.org/clinvar/221508 ^@ NC_000016.9:g.324072_705832dup381761 http://identifiers.org/clinvar/221509 ^@ NC_000016.9:g.706802_772110dup65309 http://identifiers.org/clinvar/221510 ^@ NC_000016.9:g.772433_857560dup85128 http://identifiers.org/clinvar/221511 ^@ NC_000016.9:g.1274615_19073133dup17798519 http://identifiers.org/clinvar/221512 ^@ NC_000016.9:g.19083339_19586433dup503095 http://identifiers.org/clinvar/221513 ^@ NC_000016.9:g.19590412_29814175dup10223764 http://identifiers.org/clinvar/221514 ^@ NC_000016.9:g.29814850_29830976dup16127 http://identifiers.org/clinvar/221515 ^@ NC_000016.9:g.29841933_30381027dup539095 http://identifiers.org/clinvar/221516 ^@ NC_000016.9:g.30386180_30390806dup4627 http://identifiers.org/clinvar/221517 ^@ NC_000016.9:g.30391304_31122666dup731363 http://identifiers.org/clinvar/221518 ^@ NC_000016.9:g.31123271_31153163dup29893 http://identifiers.org/clinvar/221519 ^@ NC_000016.9:g.31154186_31926800dup772615 http://identifiers.org/clinvar/221520 ^@ NC_000016.9:g.46615804_47345238del729435 http://identifiers.org/clinvar/221521 ^@ NC_000016.9:g.47531355_48264417del733063 http://identifiers.org/clinvar/221522 ^@ NC_000016.9:g.48576994_53913828del5336835 http://identifiers.org/clinvar/221523 ^@ NC_000016.9:g.55359026_70884455del15525430 http://identifiers.org/clinvar/221524 ^@ NC_000016.9:g.70889105_71101244del212140 http://identifiers.org/clinvar/221525 ^@ NC_000016.9:g.71103288_72092204del988917 http://identifiers.org/clinvar/221526 ^@ NC_000016.9:g.72093050_72097158del4109 http://identifiers.org/clinvar/221527 ^@ NC_000016.9:g.72107834_90142285del18034452 http://identifiers.org/clinvar/221528 ^@ NC_000017.10:g.7121580_7186623dup65044 http://identifiers.org/clinvar/221529 ^@ NC_000017.10:g.7736464_7798352dup61889 http://identifiers.org/clinvar/221530 ^@ NC_000017.10:g.8020196_8157327dup137132 http://identifiers.org/clinvar/221531 ^@ NC_000017.10:g.11887472_12044521dup157050 http://identifiers.org/clinvar/221532 ^@ NC_000017.10:g.16052798_16062131dup9334 http://identifiers.org/clinvar/221533 ^@ NC_000017.10:g.17718204_17726877dup8674 http://identifiers.org/clinvar/221534 ^@ NC_000018.9:g.14748529_18690826dup3942298 http://identifiers.org/clinvar/221535 ^@ NC_000018.9:g.33611007_33722860dup111854 http://identifiers.org/clinvar/221536 ^@ NC_000019.9:g.1236038_1272435dup36398 http://identifiers.org/clinvar/221537 ^@ NC_000019.9:g.1453071_1481983del28913 http://identifiers.org/clinvar/221538 ^@ NC_000019.9:g.1997403_2076912dup79510 http://identifiers.org/clinvar/221539 ^@ NC_000019.9:g.5679382_5694843dup15462 http://identifiers.org/clinvar/221540 ^@ NC_000019.9:g.7682488_7698319dup15832 http://identifiers.org/clinvar/221541 ^@ NC_000019.9:g.36227660_36250792dup23133 http://identifiers.org/clinvar/221542 ^@ NC_000019.9:g.39879621_39944079dup64459 http://identifiers.org/clinvar/221543 ^@ NC_000020.10:g.3653457_3654264del808 http://identifiers.org/clinvar/221544 ^@ NC_000020.10:g.13714429_13789519dup75091 http://identifiers.org/clinvar/221545 ^@ NC_000020.10:g.19662569_20003113dup340545 http://identifiers.org/clinvar/221546 ^@ NC_000020.10:g.25284225_25371245dup87021 http://identifiers.org/clinvar/221547 ^@ NC_000020.10:g.43955980_44053178dup97199 http://identifiers.org/clinvar/221548 ^@ NC_000020.10:g.58444946_58533817dup88872 http://identifiers.org/clinvar/221549 ^@ NC_000020.10:g.61870834_62046368del175535 http://identifiers.org/clinvar/221550 ^@ NC_000022.10:g.50318056_50437748dup119693 http://identifiers.org/clinvar/221551 ^@ NC_000022.10:g.50964500_51016275dup51776 http://identifiers.org/clinvar/221553 ^@ NM_015160.2(PMPCA):c.1066G>A (p.Gly356Ser) http://identifiers.org/clinvar/221552 ^@ NM_015160.2(PMPCA):c.1129G>A (p.Ala377Thr) http://identifiers.org/clinvar/221554 ^@ NM_002315.2(LMO1):c.26-3357G>T http://identifiers.org/clinvar/221555 ^@ NM_015335.4(MED13L):c.1708_1709delAG (p.Ser570Phefs) http://identifiers.org/clinvar/221556 ^@ NM_015335.4(MED13L):c.6118_6125delGGCATATT (p.Gly2040Asnfs) http://identifiers.org/clinvar/221557 ^@ NM_015335.4(MED13L):c.480-1G>T http://identifiers.org/clinvar/221558 ^@ NC_000012.12:g.(?_115982183)_(116022795_?)del http://identifiers.org/clinvar/221559 ^@ NC_000012.12:g.(116046494_116060176)_(116243744_116257969)dup http://identifiers.org/clinvar/221560 ^@ NM_015335.4(MED13L):c.5949_5950delTC (p.Gln1984Alafs) http://identifiers.org/clinvar/221561 ^@ NM_015335.4(MED13L):c.3765delC (p.Cys1256Valfs) http://identifiers.org/clinvar/221562 ^@ NM_015335.4(MED13L):c.607dupT (p.Ser203Phefs) http://identifiers.org/clinvar/221564 ^@ NM_015160.2(PMPCA):c.287C>T (p.Ser96Leu) http://identifiers.org/clinvar/221565 ^@ NM_015160.2(PMPCA):c.1543G>A (p.Gly515Arg) http://identifiers.org/clinvar/221566 ^@ NM_015160.2(PMPCA):c.766G>A (p.Val256Met) http://identifiers.org/clinvar/221574 ^@ NM_003629.3(PIK3R3):c.797G>A (p.Arg266His) http://identifiers.org/clinvar/221575 ^@ NM_001127208.2(TET2):c.2131G>C (p.Glu711Gln) http://identifiers.org/clinvar/221572 ^@ NM_001080413.3(NOBOX):c.138C>A (p.Tyr46Ter) http://identifiers.org/clinvar/221570 ^@ NM_052997.2(ANKRD30A):c.3771_3772delTG (p.Glu1258Thrfs) http://identifiers.org/clinvar/221571 ^@ NM_024675.3(PALB2):c.1498T>C (p.Ser500Pro) http://identifiers.org/clinvar/221573 ^@ NM_006311.3(NCOR1):c.4707delT (p.Pro1570Glnfs) http://identifiers.org/clinvar/221618 ^@ NM_014171.5(CRIPT):c.8G>A (p.Cys3Tyr) http://identifiers.org/clinvar/221619 ^@ NM_014171.5(CRIPT):c.-422_17-582del http://identifiers.org/clinvar/221624 ^@ NM_002912.4(REV3L):c.559A>T (p.Arg187Trp) http://identifiers.org/clinvar/221623 ^@ NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) http://identifiers.org/clinvar/221622 ^@ NM_000136.2(FANCC):c.595dupC (p.Leu199Profs) http://identifiers.org/clinvar/221620 ^@ NM_000059.3(BRCA2):c.4963delT (p.Tyr1655Thrfs) http://identifiers.org/clinvar/221621 ^@ NM_032043.2(BRIP1):c.1702_1703delAA (p.Asn568Trpfs) http://identifiers.org/clinvar/221680 ^@ NM_000148.3(FUT1):c.349C>T (p.His117Tyr) http://identifiers.org/clinvar/221681 ^@ NM_012431.2(SEMA3E):c.1855C>T (p.Arg619Cys) http://identifiers.org/clinvar/221682 ^@ NC_000001.10:g.49100192_50081573del981382 http://identifiers.org/clinvar/221683 ^@ NC_000001.10:g.62212822_62422442del209621 http://identifiers.org/clinvar/221684 ^@ NC_000001.10:g.102673499_102843725del170227 http://identifiers.org/clinvar/221685 ^@ NC_000001.10:g.114616228_114720018del103791 http://identifiers.org/clinvar/221686 ^@ NC_000001.10:g.196712596_196882038del169443 http://identifiers.org/clinvar/221687 ^@ NC_000001.10:g.240371821_240561727del189907 http://identifiers.org/clinvar/221688 ^@ NC_000001.10:g.242529469_242554564del25096 http://identifiers.org/clinvar/221689 ^@ NC_000002.11:g.35398456_35666876del268421 http://identifiers.org/clinvar/221690 ^@ NC_000002.11:g.35819686_36087642del267957 http://identifiers.org/clinvar/221691 ^@ NC_000002.11:g.73828493_73900329del71837 http://identifiers.org/clinvar/221692 ^@ NC_000002.11:g.124242527_124306147del63621 http://identifiers.org/clinvar/221693 ^@ NC_000002.11:g.179071826_179188986del117161 http://identifiers.org/clinvar/221694 ^@ NC_000002.11:g.242917734_243034519del116786 http://identifiers.org/clinvar/221695 ^@ NC_000003.11:g.26021365_26121843del100479 http://identifiers.org/clinvar/221696 ^@ NC_000003.11:g.60089314_60237710del148397 http://identifiers.org/clinvar/221697 ^@ NC_000003.11:g.75419736_75636449del216714 http://identifiers.org/clinvar/221698 ^@ NC_000003.11:g.85477017_85608137del131121 http://identifiers.org/clinvar/221699 ^@ NC_000003.11:g.113576202_113620344del44143 http://identifiers.org/clinvar/221700 ^@ NC_000003.11:g.151514590_151574286del59697 http://identifiers.org/clinvar/221701 ^@ NC_000004.11:g.69492319_69512654del20336 http://identifiers.org/clinvar/221702 ^@ NC_000004.11:g.177006043_177109326del103284 http://identifiers.org/clinvar/221703 ^@ NC_000004.11:g.188088282_188269838del181557 http://identifiers.org/clinvar/221704 ^@ NC_000005.9:g.68720419_68875627del155209 http://identifiers.org/clinvar/221705 ^@ NC_000005.9:g.84386904_84543864del156961 http://identifiers.org/clinvar/221706 ^@ NC_000005.9:g.96523921_96663347del139427 http://identifiers.org/clinvar/221707 ^@ NC_000005.9:g.97048466_97099320del50855 http://identifiers.org/clinvar/221708 ^@ NC_000005.9:g.113503422_113616993del113572 http://identifiers.org/clinvar/221709 ^@ NC_000006.11:g.73697858_73935015del237158 http://identifiers.org/clinvar/221710 ^@ NC_000006.11:g.78972930_79029367del56438 http://identifiers.org/clinvar/221711 ^@ NC_000006.11:g.79029649_79086086del56438 http://identifiers.org/clinvar/221712 ^@ NC_000006.11:g.162093140_162459571del366432 http://identifiers.org/clinvar/221713 ^@ NC_000007.13:g.2302956_2377332del74377 http://identifiers.org/clinvar/221714 ^@ NC_000007.13:g.33639870_33730376del90507 http://identifiers.org/clinvar/221715 ^@ NC_000007.13:g.64727862_64964510del236649 http://identifiers.org/clinvar/221716 ^@ NC_000007.13:g.76289033_76557212del268180 http://identifiers.org/clinvar/221717 ^@ NC_000007.13:g.109782499_109987031del204533 http://identifiers.org/clinvar/221718 ^@ NC_000007.13:g.110879251_111059886del180636 http://identifiers.org/clinvar/221719 ^@ NC_000008.10:g.8131816_12249050del4117235 http://identifiers.org/clinvar/221720 ^@ NC_000008.10:g.8325448_8444891del119444 http://identifiers.org/clinvar/221721 ^@ NC_000008.10:g.15939341_16021468del82128 http://identifiers.org/clinvar/221722 ^@ NC_000008.10:g.113618413_113719181del100769 http://identifiers.org/clinvar/221723 ^@ NC_000008.10:g.137688230_137857327del169098 http://identifiers.org/clinvar/221724 ^@ NC_000009.11:g.11660139_11890045del229907 http://identifiers.org/clinvar/221725 ^@ NC_000009.11:g.19678269_19779172del100904 http://identifiers.org/clinvar/221726 ^@ NC_000009.11:g.28195206_28336185del140980 http://identifiers.org/clinvar/221727 ^@ NC_000009.11:g.95063947_95179836del115890 http://identifiers.org/clinvar/221728 ^@ NC_000009.11:g.104594799_104852073del257275 http://identifiers.org/clinvar/221729 ^@ NC_000009.11:g.105765465_105815502del50038 http://identifiers.org/clinvar/221730 ^@ NC_000009.11:g.114337013_114387135del50123 http://identifiers.org/clinvar/221731 ^@ NC_000009.11:g.119285144_119803933del518790 http://identifiers.org/clinvar/221732 ^@ NC_000010.10:g.3148116_3202491del54376 http://identifiers.org/clinvar/221733 ^@ NC_000010.10:g.47543322_47646751del103430 http://identifiers.org/clinvar/221734 ^@ NC_000010.10:g.68078481_68114481del36001 http://identifiers.org/clinvar/221735 ^@ NC_000010.10:g.96499710_96557335del57626 http://identifiers.org/clinvar/221736 ^@ NC_000010.10:g.107618048_107682005del63958 http://identifiers.org/clinvar/221737 ^@ NC_000010.10:g.135256762_135379710del122949 http://identifiers.org/clinvar/221738 ^@ NC_000011.9:g.48518893_48942781del423889 http://identifiers.org/clinvar/221739 ^@ NC_000011.9:g.55122337_55451045del328709 http://identifiers.org/clinvar/221740 ^@ NC_000011.9:g.56058474_56175671del117198 http://identifiers.org/clinvar/221741 ^@ NC_000011.9:g.134365462_134439273del73812 http://identifiers.org/clinvar/221742 ^@ NC_000012.11:g.8003758_8123306del119549 http://identifiers.org/clinvar/221743 ^@ NC_000012.11:g.63946056_64116159del170104 http://identifiers.org/clinvar/221744 ^@ NC_000012.11:g.73243456_73363957del120502 http://identifiers.org/clinvar/221745 ^@ NC_000013.10:g.51194405_51398466del204062 http://identifiers.org/clinvar/221746 ^@ NC_000013.10:g.97049100_97304003del254904 http://identifiers.org/clinvar/221747 ^@ NC_000013.10:g.108157430_108269796del112367 http://identifiers.org/clinvar/221748 ^@ NC_000014.8:g.44251087_44284324del33238 http://identifiers.org/clinvar/221749 ^@ NC_000014.8:g.46552854_46679281del126428 http://identifiers.org/clinvar/221750 ^@ NC_000015.9:g.24357212_24472278del115067 http://identifiers.org/clinvar/221751 ^@ NC_000015.9:g.28962131_30366247del1404117 http://identifiers.org/clinvar/221752 ^@ NC_000015.9:g.57667027_57734290del67264 http://identifiers.org/clinvar/221753 ^@ NC_000015.9:g.83213963_84811815del1597853 http://identifiers.org/clinvar/221754 ^@ NC_000015.9:g.101678725_101833366del154642 http://identifiers.org/clinvar/221755 ^@ NC_000016.9:g.12688896_12730650del41755 http://identifiers.org/clinvar/221756 ^@ NC_000016.9:g.78564441_78769788del205348 http://identifiers.org/clinvar/221757 ^@ NC_000016.9:g.81249929_81303891del53963 http://identifiers.org/clinvar/221758 ^@ NC_000017.10:g.11885_114669del102785 http://identifiers.org/clinvar/221759 ^@ NC_000017.10:g.14105874_15383769del1277896 http://identifiers.org/clinvar/221760 ^@ NC_000017.10:g.21539613_21874036del334424 http://identifiers.org/clinvar/221761 ^@ NC_000018.9:g.1715758_1833682del117925 http://identifiers.org/clinvar/221762 ^@ NC_000018.9:g.1898848_1963417del64570 http://identifiers.org/clinvar/221763 ^@ NC_000018.9:g.64086760_64334903del248144 http://identifiers.org/clinvar/221764 ^@ NC_000018.9:g.69080787_69229915del149129 http://identifiers.org/clinvar/221765 ^@ NC_000018.9:g.75539208_75656108del116901 http://identifiers.org/clinvar/221766 ^@ NC_000019.9:g.3804701_3835177del30477 http://identifiers.org/clinvar/221767 ^@ NC_000019.9:g.43372386_43539189del166804 http://identifiers.org/clinvar/221768 ^@ NC_000019.9:g.48063134_48282069del218936 http://identifiers.org/clinvar/221769 ^@ NC_000020.10:g.14781684_14823472del41789 http://identifiers.org/clinvar/221770 ^@ NC_000022.10:g.18738296_25914592del7176297 http://identifiers.org/clinvar/221771 ^@ NC_000022.10:g.25732697_25910879del178183 http://identifiers.org/clinvar/221772 ^@ NC_000022.10:g.43122720_43500212del377493 http://identifiers.org/clinvar/221773 ^@ NC_000023.10:g.2591887_2802568del210682 http://identifiers.org/clinvar/221774 ^@ NC_000023.10:g.22958001_23020021del62021 http://identifiers.org/clinvar/221775 ^@ NC_000023.10:g.47911871_47970727del58857 http://identifiers.org/clinvar/221776 ^@ NC_000023.10:g.99931059_120328627del20397569 http://identifiers.org/clinvar/221777 ^@ NC_000001.10:g.35570364_35656664dup86301 http://identifiers.org/clinvar/221778 ^@ NC_000001.10:g.59891821_61162222dup1270402 http://identifiers.org/clinvar/221779 ^@ NC_000001.10:g.103908591_104012569dup103979 http://identifiers.org/clinvar/221780 ^@ NC_000001.10:g.104103057_104357400dup254344 http://identifiers.org/clinvar/221781 ^@ NC_000001.10:g.121171208_121289118dup117911 http://identifiers.org/clinvar/221782 ^@ NC_000001.10:g.145020771_145640129dup619359 http://identifiers.org/clinvar/221783 ^@ NC_000001.10:g.173697478_174010664dup313187 http://identifiers.org/clinvar/221784 ^@ NC_000001.10:g.196794652_196882038dup87387 http://identifiers.org/clinvar/221785 ^@ NC_000001.10:g.237083719_237586469dup502751 http://identifiers.org/clinvar/221786 ^@ NC_000002.11:g.51572556_51729681dup157126 http://identifiers.org/clinvar/221787 ^@ NC_000002.11:g.90010895_90240473dup229579 http://identifiers.org/clinvar/221788 ^@ NC_000002.11:g.95444917_95977790dup532874 http://identifiers.org/clinvar/221789 ^@ NC_000002.11:g.124069523_124251487dup181965 http://identifiers.org/clinvar/221790 ^@ NC_000002.11:g.128368235_128405920dup37686 http://identifiers.org/clinvar/221791 ^@ NC_000002.11:g.130982377_131096727dup114351 http://identifiers.org/clinvar/221792 ^@ NC_000002.11:g.133584471_133902333dup317863 http://identifiers.org/clinvar/221793 ^@ NC_000002.11:g.170051329_170213930dup162602 http://identifiers.org/clinvar/221794 ^@ NC_000002.11:g.200250898_201845999dup1595102 http://identifiers.org/clinvar/221795 ^@ NC_000002.11:g.216629374_217251859dup622486 http://identifiers.org/clinvar/221796 ^@ NC_000003.11:g.66894_2552565dup2485672 http://identifiers.org/clinvar/221797 ^@ NC_000003.11:g.6224872_6598777dup373906 http://identifiers.org/clinvar/221798 ^@ NC_000003.11:g.35832877_35925872dup92996 http://identifiers.org/clinvar/221799 ^@ NC_000003.11:g.122964492_123080578dup116087 http://identifiers.org/clinvar/221800 ^@ NC_000003.11:g.173239453_173289281dup49829 http://identifiers.org/clinvar/221801 ^@ NC_000003.11:g.182896411_183198268dup301858 http://identifiers.org/clinvar/221802 ^@ NC_000004.11:g.10188326_11112475dup924150 http://identifiers.org/clinvar/221803 ^@ NC_000004.11:g.18303100_18412600dup109501 http://identifiers.org/clinvar/221804 ^@ NC_000004.11:g.57759221_57795328dup36108 http://identifiers.org/clinvar/221805 ^@ NC_000004.11:g.80179372_80566060dup386689 http://identifiers.org/clinvar/221806 ^@ NC_000004.11:g.127037075_127760876dup723802 http://identifiers.org/clinvar/221807 ^@ NC_000004.11:g.131965131_132354287dup389157 http://identifiers.org/clinvar/221808 ^@ NC_000004.11:g.188498590_189313688dup815099 http://identifiers.org/clinvar/221809 ^@ NC_000005.9:g.9529809_9990381dup460573 http://identifiers.org/clinvar/221810 ^@ NC_000005.9:g.32107381_32159517dup52137 http://identifiers.org/clinvar/221811 ^@ NC_000005.9:g.34003361_34663915dup660555 http://identifiers.org/clinvar/221812 ^@ NC_000005.9:g.129648250_130330467dup682218 http://identifiers.org/clinvar/221813 ^@ NC_000006.11:g.95354276_95676106dup321831 http://identifiers.org/clinvar/221814 ^@ NC_000006.11:g.137941485_138002056dup60572 http://identifiers.org/clinvar/221815 ^@ NC_000006.11:g.161362678_161469774dup107097 http://identifiers.org/clinvar/221816 ^@ NC_000006.11:g.168352586_168597242dup244657 http://identifiers.org/clinvar/221817 ^@ NC_000006.11:g.170713690_170890384dup176695 http://identifiers.org/clinvar/221818 ^@ NC_000007.13:g.37445_68920dup31476 http://identifiers.org/clinvar/221819 ^@ NC_000007.13:g.132529_162448dup29920 http://identifiers.org/clinvar/221820 ^@ NC_000007.13:g.13193276_13244473dup51198 http://identifiers.org/clinvar/221821 ^@ NC_000007.13:g.17584021_17640215dup56195 http://identifiers.org/clinvar/221822 ^@ NC_000007.13:g.21483605_21589243dup105639 http://identifiers.org/clinvar/221823 ^@ NC_000007.13:g.29209361_29535998dup326638 http://identifiers.org/clinvar/221824 ^@ NC_000007.13:g.37741319_37885121dup143803 http://identifiers.org/clinvar/221825 ^@ NC_000007.13:g.57481104_57621951dup140848 http://identifiers.org/clinvar/221826 ^@ NC_000007.13:g.62043624_62336389dup292766 http://identifiers.org/clinvar/221827 ^@ NC_000007.13:g.76289033_76476970dup187938 http://identifiers.org/clinvar/221828 ^@ NC_000007.13:g.76432653_76476970dup44318 http://identifiers.org/clinvar/221829 ^@ NC_000007.13:g.100968363_101127455dup159093 http://identifiers.org/clinvar/221830 ^@ NC_000007.13:g.140070378_140129626dup59249 http://identifiers.org/clinvar/221831 ^@ NC_000008.10:g.11745820_11860259dup114440 http://identifiers.org/clinvar/221832 ^@ NC_000008.10:g.104996667_105229526dup232860 http://identifiers.org/clinvar/221833 ^@ NC_000008.10:g.130866512_131107094dup240583 http://identifiers.org/clinvar/221834 ^@ NC_000009.11:g.46587_262191dup215605 http://identifiers.org/clinvar/221835 ^@ NC_000009.11:g.244457_262191dup17735 http://identifiers.org/clinvar/221836 ^@ NC_000009.11:g.4287179_5579213dup1292035 http://identifiers.org/clinvar/221837 ^@ NC_000009.11:g.104819532_104883836dup64305 http://identifiers.org/clinvar/221838 ^@ NC_000009.11:g.138149166_138237120dup87955 http://identifiers.org/clinvar/221839 ^@ NC_000010.10:g.47013328_47703946dup690619 http://identifiers.org/clinvar/221840 ^@ NC_000010.10:g.132547998_133057358dup509361 http://identifiers.org/clinvar/221841 ^@ NC_000010.10:g.135252347_135378802dup126456 http://identifiers.org/clinvar/221842 ^@ NC_000011.9:g.34642823_34796804dup153982 http://identifiers.org/clinvar/221843 ^@ NC_000011.9:g.50023832_50682188dup658357 http://identifiers.org/clinvar/221844 ^@ NC_000011.9:g.107554267_108004957dup450691 http://identifiers.org/clinvar/221845 ^@ NC_000011.9:g.133433026_133716356dup283331 http://identifiers.org/clinvar/221846 ^@ NC_000011.9:g.134369417_134714635dup345219 http://identifiers.org/clinvar/221847 ^@ NC_000012.11:g.7895024_8014573dup119550 http://identifiers.org/clinvar/221848 ^@ NC_000012.11:g.31157554_31391194dup233641 http://identifiers.org/clinvar/221849 ^@ NC_000012.11:g.36702406_37120187dup417782 http://identifiers.org/clinvar/221850 ^@ NC_000012.11:g.38416139_38653605dup237467 http://identifiers.org/clinvar/221851 ^@ NC_000012.11:g.63946056_64116159dup170104 http://identifiers.org/clinvar/221852 ^@ NC_000012.11:g.100307887_100452062dup144176 http://identifiers.org/clinvar/221853 ^@ NC_000012.11:g.104908843_105074764dup165922 http://identifiers.org/clinvar/221854 ^@ NC_000012.11:g.109547668_109661414dup113747 http://identifiers.org/clinvar/221855 ^@ NC_000012.11:g.125260645_125321461dup60817 http://identifiers.org/clinvar/221856 ^@ NC_000012.11:g.129806980_130480186dup673207 http://identifiers.org/clinvar/221857 ^@ NC_000013.10:g.23368834_24815661dup1446828 http://identifiers.org/clinvar/221858 ^@ NC_000013.10:g.24936847_25010174dup73328 http://identifiers.org/clinvar/221859 ^@ NC_000013.10:g.66172692_66345298dup172607 http://identifiers.org/clinvar/221860 ^@ NC_000013.10:g.68194708_68272196dup77489 http://identifiers.org/clinvar/221861 ^@ NC_000013.10:g.90387808_90490883dup103076 http://identifiers.org/clinvar/221862 ^@ NC_000013.10:g.95937149_96030662dup93514 http://identifiers.org/clinvar/221863 ^@ NC_000013.10:g.111676920_111746149dup69230 http://identifiers.org/clinvar/221864 ^@ NC_000014.8:g.20213937_20420338dup206402 http://identifiers.org/clinvar/221865 ^@ NC_000014.8:g.49463484_49657524dup194041 http://identifiers.org/clinvar/221866 ^@ NC_000014.8:g.106124720_106949307dup824588 http://identifiers.org/clinvar/221867 ^@ NC_000015.9:g.22076598_22219100dup142503 http://identifiers.org/clinvar/221868 ^@ NC_000015.9:g.32049125_32418038dup368914 http://identifiers.org/clinvar/221869 ^@ NC_000015.9:g.34800595_35026251dup225657 http://identifiers.org/clinvar/221870 ^@ NC_000015.9:g.82429837_82691453dup261617 http://identifiers.org/clinvar/221871 ^@ NC_000015.9:g.100988564_101401627dup413064 http://identifiers.org/clinvar/221872 ^@ NC_000015.9:g.102251993_102461162dup209170 http://identifiers.org/clinvar/221873 ^@ NC_000016.9:g.9194963_9356311dup161349 http://identifiers.org/clinvar/221874 ^@ NC_000016.9:g.13889247_14163635dup274389 http://identifiers.org/clinvar/221875 ^@ NC_000016.9:g.29779861_29980031dup200171 http://identifiers.org/clinvar/221876 ^@ NC_000016.9:g.75539436_75577559dup38124 http://identifiers.org/clinvar/221877 ^@ NC_000017.10:g.34815551_36220373dup1404823 http://identifiers.org/clinvar/221878 ^@ NC_000017.10:g.44249096_44293020dup43925 http://identifiers.org/clinvar/221879 ^@ NC_000017.10:g.77365534_77394037dup28504 http://identifiers.org/clinvar/221880 ^@ NC_000018.9:g.9450518_9547947dup97430 http://identifiers.org/clinvar/221881 ^@ NC_000018.9:g.14774429_15375878dup601450 http://identifiers.org/clinvar/221882 ^@ NC_000018.9:g.65274155_65597947dup323793 http://identifiers.org/clinvar/221883 ^@ NC_000019.9:g.20835290_20987550dup152261 http://identifiers.org/clinvar/221884 ^@ NC_000019.9:g.34480641_34687560dup206920 http://identifiers.org/clinvar/221885 ^@ NC_000019.9:g.48085766_48160500dup74735 http://identifiers.org/clinvar/221886 ^@ NC_000019.9:g.52272131_52588718dup316588 http://identifiers.org/clinvar/221887 ^@ NC_000020.10:g.23619740_23727830dup108091 http://identifiers.org/clinvar/221888 ^@ NC_000021.8:g.19888645_25594975dup5706331 http://identifiers.org/clinvar/221889 ^@ NC_000021.8:g.27502468_27849346dup346879 http://identifiers.org/clinvar/221890 ^@ NC_000022.10:g.18892575_19026403dup133829 http://identifiers.org/clinvar/221891 ^@ NC_000022.10:g.20220764_21024880dup804117 http://identifiers.org/clinvar/221892 ^@ NC_000022.10:g.22312879_22556358dup243480 http://identifiers.org/clinvar/221893 ^@ NC_000022.10:g.25661725_25910879dup249155 http://identifiers.org/clinvar/221894 ^@ NC_000022.10:g.37485062_37618530dup133469 http://identifiers.org/clinvar/221895 ^@ NC_000023.10:g.6497085_6596639dup99555 http://identifiers.org/clinvar/221896 ^@ NC_000023.10:g.6516735_8135053dup1618319 http://identifiers.org/clinvar/221897 ^@ NC_000023.10:g.22818110_22862852dup44743 http://identifiers.org/clinvar/221898 ^@ NC_000023.10:g.31453403_31560484dup107082 http://identifiers.org/clinvar/221899 ^@ NC_000023.10:g.38490844_38624791dup133948 http://identifiers.org/clinvar/221900 ^@ NC_000023.10:g.66905875_67475065dup569191 http://identifiers.org/clinvar/221901 ^@ NC_000023.10:g.134292131_134852104dup559974 http://identifiers.org/clinvar/221902 ^@ NM_012452.2(TNFRSF13B):c.453G>C (p.Pro151=) http://identifiers.org/clinvar/221909 ^@ NM_000159.3(GCDH):c.795_796insCTATGATCATC (p.Met266Leufs) http://identifiers.org/clinvar/221908 ^@ NM_000159.3(GCDH):c.852+223C>T http://identifiers.org/clinvar/221907 ^@ NM_000159.3(GCDH):c.1031C>T (p.Thr344Ile) http://identifiers.org/clinvar/221905 ^@ NM_000159.3(GCDH):c.*331T>C http://identifiers.org/clinvar/221906 ^@ NM_000159.3(GCDH):c.*332C>A http://identifiers.org/clinvar/221904 ^@ NM_000159.3(GCDH):c.*340G>A http://identifiers.org/clinvar/221912 ^@ NM_000051.3(ATM):c.1924G>T (p.Glu642Ter) http://identifiers.org/clinvar/221911 ^@ NM_000051.3(ATM):c.6198+1G>A http://identifiers.org/clinvar/221910 ^@ NM_133509.3(RAD51B):c.84G>A (p.Gln28=) http://identifiers.org/clinvar/221913 ^@ NM_000051.3(ATM):c.3747-1G>A http://identifiers.org/clinvar/221914 ^@ NM_024675.3(PALB2):c.1042C>T (p.Gln348Ter) http://identifiers.org/clinvar/221936 ^@ NM_205860.2(NR5A2):c.884C>T (p.Thr295Met) http://identifiers.org/clinvar/221961 ^@ NM_001309193.1(EPHB2):c.787G>A (p.Val263Ile) http://identifiers.org/clinvar/221922 ^@ NM_021080.3(DAB1):c.1075G>A (p.Gly359Arg) http://identifiers.org/clinvar/221952 ^@ NM_005270.4(GLI2):c.1859C>T (p.Thr620Met) http://identifiers.org/clinvar/221941 ^@ NM_025202.3(EFHD1):c.245C>T (p.Thr82Met) http://identifiers.org/clinvar/221929 ^@ NM_015662.2(IFT172):c.5133delC (p.Trp1712Glyfs) http://identifiers.org/clinvar/221925 ^@ NM_015662.2(IFT172):c.3880C>T (p.Arg1294Cys) http://identifiers.org/clinvar/221930 ^@ NM_012476.2(VAX2):c.398C>T (p.Thr133Ile) http://identifiers.org/clinvar/221955 ^@ NM_003183.5(ADAM17):c.847C>T (p.Arg283Cys) http://identifiers.org/clinvar/221918 ^@ NM_004189.3(SOX14):c.722delA (p.Ter241Tyrfs) http://identifiers.org/clinvar/221926 ^@ NM_004625.3(WNT7A):c.232C>T (p.Arg78Cys) http://identifiers.org/clinvar/221946 ^@ NM_001304472.1(CHRD):c.1370C>G (p.Thr457Ser) http://identifiers.org/clinvar/221940 ^@ NM_198159.2(MITF):c.736G>A (p.Asp246Asn) http://identifiers.org/clinvar/221921 ^@ NM_001291285.1(FAT4):c.131A>C (p.Glu44Ala) http://identifiers.org/clinvar/221915 ^@ NM_024582.4(FAT4):c.7960A>C (p.Lys2654Gln) http://identifiers.org/clinvar/221956 ^@ NM_003013.2(SFRP2):c.626A>G (p.Asp209Gly) http://identifiers.org/clinvar/221944 ^@ NM_000142.4(FGFR3):c.1879G>A (p.Glu627Lys) http://identifiers.org/clinvar/221920 ^@ NM_005245.3(FAT1):c.4336G>A (p.Val1446Ile) http://identifiers.org/clinvar/221949 ^@ NM_001166133.1(FRAS1):c.3700G>A (p.Ala1234Thr) http://identifiers.org/clinvar/221951 ^@ NM_005921.1(MAP3K1):c.1420A>G (p.Ile474Val) http://identifiers.org/clinvar/221935 ^@ NM_004557.3(NOTCH4):c.2443T>G (p.Cys815Gly) http://identifiers.org/clinvar/221945 ^@ NM_001128204.1(SULF1):c.529G>A (p.Gly177Ser) http://identifiers.org/clinvar/221939 ^@ NM_017617.4(NOTCH1):c.2434G>A (p.Gly812Arg) http://identifiers.org/clinvar/221942 ^@ NM_017617.4(NOTCH1):c.68G>T (p.Arg23Leu) http://identifiers.org/clinvar/221954 ^@ NM_001042413.1(GLIS3):c.2710G>C (p.Gly904Arg) http://identifiers.org/clinvar/221931 ^@ NM_000264.3(PTCH1):c.3191C>T (p.Thr1064Met) http://identifiers.org/clinvar/221968 ^@ NM_000264.3(PTCH1):c.2695A>G (p.Ile899Val) http://identifiers.org/clinvar/221969 ^@ NM_000264.3(PTCH1):c.2332A>C (p.Thr778Pro) http://identifiers.org/clinvar/221923 ^@ NM_001083603.1(PTCH1):c.4delG (p.Glu2Asnfs) http://identifiers.org/clinvar/221934 ^@ NM_002627.4(PFKP):c.740dupG (p.Trp248Leufs) http://identifiers.org/clinvar/221958 ^@ NM_001242307.1(PITRM1):c.2423A>G (p.Lys808Arg) http://identifiers.org/clinvar/221965 ^@ NM_003635.3(NDST2):c.199C>T (p.Arg67Trp) http://identifiers.org/clinvar/221964 ^@ NM_003635.3(NDST2):c.25C>T (p.Arg9Cys) http://identifiers.org/clinvar/221928 ^@ NM_183374.2(CYP26C1):c.1243C>G (p.His415Asp) http://identifiers.org/clinvar/221953 ^@ NM_001173464.1(KIF21A):c.2287G>A (p.Val763Met) http://identifiers.org/clinvar/221938 ^@ NM_181711.3(GRASP):c.1084G>A (p.Gly362Ser) http://identifiers.org/clinvar/221960 ^@ NM_000966.5(RARG):c.245C>T (p.Pro82Leu) http://identifiers.org/clinvar/221924 ^@ NM_005761.2(PLXNC1):c.3649T>C (p.Cys1217Arg) http://identifiers.org/clinvar/221937 ^@ NM_020366.3(RPGRIP1):c.808A>G (p.Ile270Val) http://identifiers.org/clinvar/221933 ^@ NM_020366.3(RPGRIP1):c.2424C>G (p.Cys808Trp) http://identifiers.org/clinvar/221948 ^@ NM_016651.5(DACT1):c.2010G>C (p.Lys670Asn) http://identifiers.org/clinvar/221962 ^@ NM_182894.2(VSX2):c.71dupG (p.Ala25Argfs) http://identifiers.org/clinvar/221963 ^@ NM_182894.2(VSX2):c.667G>A (p.Gly223Arg) http://identifiers.org/clinvar/221950 ^@ NM_177438.2(DICER1):c.2191G>A (p.Glu731Lys) http://identifiers.org/clinvar/221967 ^@ NM_022369.3(STRA6):c.1913G>C (p.Arg638Pro) http://identifiers.org/clinvar/221927 ^@ NM_022369.3(STRA6):c.1735C>G (p.Pro579Ala) http://identifiers.org/clinvar/221966 ^@ NM_022369.3(STRA6):c.1313A>G (p.Gln438Arg) http://identifiers.org/clinvar/221932 ^@ NM_001243332.1(SEZ6L2):c.323C>T (p.Thr108Ile) http://identifiers.org/clinvar/221947 ^@ NM_024533.4(CHST5):c.737T>C (p.Ile246Thr) http://identifiers.org/clinvar/221916 ^@ NM_001080779.1(MYO1C):c.391C>T (p.Arg131Cys) http://identifiers.org/clinvar/221959 ^@ NM_006445.3(PRPF8):c.3527C>T (p.Ser1176Phe) http://identifiers.org/clinvar/221917 ^@ NM_171999.3(SALL3):c.2254G>A (p.Val752Met) http://identifiers.org/clinvar/221919 ^@ NM_173485.5(TSHZ2):c.247T>G (p.Ser83Ala) http://identifiers.org/clinvar/221957 ^@ NM_173485.5(TSHZ2):c.1289A>T (p.Gln430Leu) http://identifiers.org/clinvar/221943 ^@ NM_004312.2(ARR3):c.1052C>T (p.Pro351Leu) http://identifiers.org/clinvar/221976 ^@ NM_000202.7(IDS):c.1463delT (p.Met488Argfs) http://identifiers.org/clinvar/221975 ^@ NM_000202.7(IDS):c.1132_1133delTT (p.Phe378Profs) http://identifiers.org/clinvar/221972 ^@ NM_000202.7(IDS):c.1025A>C (p.His342Pro) http://identifiers.org/clinvar/221978 ^@ NM_000202.7(IDS):c.1006+1G>T http://identifiers.org/clinvar/221971 ^@ NM_000202.7(IDS):c.1003C>T (p.His335Tyr) http://identifiers.org/clinvar/221974 ^@ NM_000202.7(IDS):c.754_767delGATCCCGAGGTCCC (p.Asp252Terfs) http://identifiers.org/clinvar/221977 ^@ NM_000202.7(IDS):c.508-1G>C http://identifiers.org/clinvar/221973 ^@ NM_000202.7(IDS):c.463_464delTTinsCCGTATAGCTGG (p.Phe155Profs) http://identifiers.org/clinvar/221970 ^@ NM_000202.7(IDS):c.133G>C (p.Asp45His) http://identifiers.org/clinvar/221979 ^@ NM_000202.7(IDS):c.-217_103del320 http://identifiers.org/clinvar/221980 ^@ NM_024757.4(EHMT1):c.3413G>A (p.Trp1138Ter) http://identifiers.org/clinvar/221981 ^@ NM_018896.4(CACNA1G):c.5144G>A (p.Arg1715His) http://identifiers.org/clinvar/221982 ^@ NM_001002020.2(PUS1):c.799C>T (p.Arg267Trp) http://identifiers.org/clinvar/221983 ^@ NM_024549.5(TCTN1):c.856C>T (p.Arg286Ter) http://identifiers.org/clinvar/221984 ^@ NC_000024.9:g.(?_1531361)_(1921039_?)dup http://identifiers.org/clinvar/221985 ^@ NC_000019.9:g.(?_24029621)_(24503818_?)dup http://identifiers.org/clinvar/221986 ^@ NC_000023.10:g.(?_39031508)_(39794957_?)dup http://identifiers.org/clinvar/221987 ^@ NC_000023.10:g.(?_13911950)_(14708620_?)dup http://identifiers.org/clinvar/221988 ^@ NC_000024.9:g.(?_10814)_(487179_?)dup http://identifiers.org/clinvar/221989 ^@ NC_000001.10:g.(?_236224569)_(237379105_?)dup http://identifiers.org/clinvar/221990 ^@ NC_000013.10:g.(?_92520462)_(92715040_?)del http://identifiers.org/clinvar/221991 ^@ NC_000004.11:g.(?_149135444)_(149320303_?)dup http://identifiers.org/clinvar/221992 ^@ NC_000012.11:g.(?_31886971)_(50360461_?)dup http://identifiers.org/clinvar/221993 ^@ NC_000016.9:g.(?_21771016)_(22409463_?)del http://identifiers.org/clinvar/221994 ^@ NC_000007.13:g.(?_72722981)_(74141840_?)del http://identifiers.org/clinvar/221995 ^@ NC_000015.9:g.(?_22750305)_(23702085_?)del http://identifiers.org/clinvar/221996 ^@ NC_000022.10:g.(?_35680095)_(38098981_?)del http://identifiers.org/clinvar/222001 ^@ NM_005572.3(LMNA):c.1228C>T (p.Gln410Ter) http://identifiers.org/clinvar/222000 ^@ NM_004444.4(EPHB4):c.980C>T (p.Pro327Leu) http://identifiers.org/clinvar/221997 ^@ NM_017617.4(NOTCH1):c.3765C>A (p.Cys1255Ter) http://identifiers.org/clinvar/221998 ^@ NM_017617.4(NOTCH1):c.2439C>G (p.Tyr813Ter) http://identifiers.org/clinvar/221999 ^@ NM_017617.4(NOTCH1):c.578G>A (p.Gly193Asp) http://identifiers.org/clinvar/222002 ^@ NM_005612.4(REST):c.831_832delAT (p.Cys278Trpfs) http://identifiers.org/clinvar/222003 ^@ NM_005612.4(REST):c.773_776delTGAG (p.Val258Alafs) http://identifiers.org/clinvar/222004 ^@ NM_005612.4(REST):c.965A>G (p.His322Arg) http://identifiers.org/clinvar/222005 ^@ NM_013447.3(ADGRE2):c.1475G>A (p.Cys492Tyr) http://identifiers.org/clinvar/222006 ^@ NM_173471.3(SLC25A26):c.443T>G (p.Val148Gly) http://identifiers.org/clinvar/222007 ^@ NM_173471.3(SLC25A26):c.305C>T (p.Ala102Val) http://identifiers.org/clinvar/222008 ^@ NM_173471.3(SLC25A26):c.596C>T (p.Pro199Leu) http://identifiers.org/clinvar/222009 ^@ NM_173471.3(SLC25A26):c.33+1G>A http://identifiers.org/clinvar/222010 ^@ NM_032504.1(UNC80):c.5098C>T (p.Pro1700Ser) http://identifiers.org/clinvar/222011 ^@ NM_032504.1(UNC80):c.7607G>C (p.Arg2536Thr) http://identifiers.org/clinvar/222012 ^@ NM_032504.1(UNC80):c.2033delA (p.Asn678Thrfs) http://identifiers.org/clinvar/222013 ^@ NM_032504.1(UNC80):c.7757T>A (p.Leu2586Ter) http://identifiers.org/clinvar/222017 ^@ NM_032504.1(UNC80):c.151C>T (p.Arg51Ter) http://identifiers.org/clinvar/222018 ^@ NC_000012.12:g.23484745_23564581del http://identifiers.org/clinvar/222019 ^@ NC_000012.12:g.23488792_23626279del http://identifiers.org/clinvar/222020 ^@ NC_000012.12:g.23771866_23888764del http://identifiers.org/clinvar/222021 ^@ NC_000012.11:g.23979791_24033225del53435 http://identifiers.org/clinvar/222022 ^@ NM_152989.4(SOX5):c.1021G>T (p.Gly341Ter) http://identifiers.org/clinvar/222023 ^@ NM_012473.3(TXN2):c.71G>A (p.Trp24Ter) http://identifiers.org/clinvar/222024 ^@ NM_001042616.2(PIGY):c.137T>C (p.Leu46Pro) http://identifiers.org/clinvar/222025 ^@ NM_001042616.2(PIGY):c.-540G>A http://identifiers.org/clinvar/222026 ^@ NM_001143986.1(TLE6):c.1529C>A (p.Ser510Tyr) http://identifiers.org/clinvar/222028 ^@ NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) http://identifiers.org/clinvar/222029 ^@ NC_000011.10:g.66257086_66257302del http://identifiers.org/clinvar/222030 ^@ NM_032833.4(PPP1R15B):c.1972C>T (p.Arg658Cys) http://identifiers.org/clinvar/222032 ^@ NM_005842.3(SPRY2):c.355C>T (p.Arg119Trp) http://identifiers.org/clinvar/222033 ^@ NM_001199563.1(BVES):c.602C>T (p.Ser201Phe) http://identifiers.org/clinvar/222034 ^@ NM_017545.2(HAO1):c.814_972del159 http://identifiers.org/clinvar/222035 ^@ NM_018027.4(FRMD4A):c.2134_2146dupCTGGAGTCCCAGG (p.Gly716Alafs) http://identifiers.org/clinvar/222055 ^@ NM_000092.4(COL4A4):c.2986G>A (p.Gly996Arg) http://identifiers.org/clinvar/242442 ^@ NM_000092.4(COL4A4):c.2320G>C (p.Gly774Arg) http://identifiers.org/clinvar/242441 ^@ NM_000092.4(COL4A4):c.1320_1369+2del http://identifiers.org/clinvar/222056 ^@ NM_000092.4(COL4A4):c.1100-2A>C http://identifiers.org/clinvar/242440 ^@ NM_000091.4(COL4A3):c.687G>A (p.Arg229=) http://identifiers.org/clinvar/222053 ^@ NM_000091.4(COL4A3):c.765G>T (p.Thr255=) http://identifiers.org/clinvar/222051 ^@ NM_000091.4(COL4A3):c.765+2T>C http://identifiers.org/clinvar/222052 ^@ NM_000091.4(COL4A3):c.3410G>A (p.Gly1137Asp) http://identifiers.org/clinvar/242439 ^@ NM_000091.4(COL4A3):c.3490G>T (p.Gly1164Cys) http://identifiers.org/clinvar/222061 ^@ NM_033380.2(COL4A5):c.82G>T (p.Ala28Ser) http://identifiers.org/clinvar/222062 ^@ NM_033380.2(COL4A5):c.1010G>T (p.Gly337Val) http://identifiers.org/clinvar/222058 ^@ NM_033380.2(COL4A5):c.1033-6A>G http://identifiers.org/clinvar/222057 ^@ NM_033380.2(COL4A5):c.1780-1G>T http://identifiers.org/clinvar/222059 ^@ NM_033380.2(COL4A5):c.2395+1G>A http://identifiers.org/clinvar/222060 ^@ NM_033380.2(COL4A5):c.2741G>A (p.Gly914Asp) http://identifiers.org/clinvar/222063 ^@ NM_001012339.2(DNAJC21):c.94C>G (p.Pro32Ala) http://identifiers.org/clinvar/222066 ^@ NM_001012339.2(DNAJC21):c.983+1G>A http://identifiers.org/clinvar/222064 ^@ NM_001012339.2(DNAJC21):c.517C>T (p.Arg173Ter) http://identifiers.org/clinvar/222065 ^@ NM_001012339.2(DNAJC21):c.793G>T (p.Glu265Ter) http://identifiers.org/clinvar/222069 ^@ NM_020821.2(VPS13C):c.9568G>T (p.Glu3190Ter) http://identifiers.org/clinvar/222067 ^@ NM_020821.2(VPS13C):c.8445+2T>G http://identifiers.org/clinvar/222071 ^@ NM_020821.2(VPS13C):c.4777delC (p.Gln1593Lysfs) http://identifiers.org/clinvar/222070 ^@ NM_020821.2(VPS13C):c.4165G>C (p.Gly1389Arg) http://identifiers.org/clinvar/222068 ^@ NM_020821.2(VPS13C):c.806_807insCAGA (p.Arg269Serfs) http://identifiers.org/clinvar/222072 ^@ NC_000010.10:g.(?_116476)_(450983_?)del http://identifiers.org/clinvar/222073 ^@ NM_052867.2(NALCN):c.3390G>A (p.Pro1130=) http://identifiers.org/clinvar/222074 ^@ NM_002755.3(MAP2K1):c.175_177delAAG (p.Lys59del) http://identifiers.org/clinvar/222075 ^@ NM_004985.4(KRAS):c.175G>T (p.Ala59Ser) http://identifiers.org/clinvar/222076 ^@ NM_005343.3(HRAS):c.36C>T (p.Gly12=) http://identifiers.org/clinvar/222077 ^@ NM_004333.4(BRAF):c.1574T>C (p.Leu525Pro) http://identifiers.org/clinvar/222078 ^@ NM_000702.3(ATP1A2):c.571G>A (p.Val191Met) http://identifiers.org/clinvar/222080 ^@ NM_016474.4(CCDC174):c.1404A>G (p.Ter468Trp) http://identifiers.org/clinvar/222081 ^@ NM_001145408.1(NONO):c.1131G>A (p.Ala377=) http://identifiers.org/clinvar/222082 ^@ NM_001145408.1(NONO):c.1394dupC (p.Asn466Lysfs) http://identifiers.org/clinvar/222083 ^@ NM_001145408.1(NONO):c.1093C>T (p.Arg365Ter) http://identifiers.org/clinvar/222156 ^@ NM_000169.2(GLA):c.1191T>C (p.Tyr397=) http://identifiers.org/clinvar/222145 ^@ NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) http://identifiers.org/clinvar/222143 ^@ NM_000169.2(GLA):c.1095T>C (p.Tyr365=) http://identifiers.org/clinvar/222141 ^@ NM_000169.2(GLA):c.1088G>A (p.Arg363His) http://identifiers.org/clinvar/222130 ^@ NM_000169.2(GLA):c.1046G>C (p.Trp349Ser) http://identifiers.org/clinvar/222112 ^@ NM_000169.2(GLA):c.1000-22C>T http://identifiers.org/clinvar/222460 ^@ NM_000169.2(GLA):c.967C>A (p.Pro323Thr) http://identifiers.org/clinvar/222459 ^@ NM_000169.2(GLA):c.966C>A (p.Asp322Glu) http://identifiers.org/clinvar/222442 ^@ NM_000169.2(GLA):c.890C>G (p.Ser297Cys) http://identifiers.org/clinvar/222316 ^@ NM_000169.2(GLA):c.607G>A (p.Glu203Lys) http://identifiers.org/clinvar/222314 ^@ NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) http://identifiers.org/clinvar/222253 ^@ NM_000169.2(GLA):c.416A>G (p.Asn139Ser) http://identifiers.org/clinvar/222240 ^@ NM_000169.2(GLA):c.370-81_370-77del http://identifiers.org/clinvar/222224 ^@ NM_000169.2(GLA):c.369T>C (p.Tyr123=) http://identifiers.org/clinvar/222170 ^@ NM_000169.2(GLA):c.123C>T (p.Thr41=) http://identifiers.org/clinvar/222100 ^@ NM_000169.2(GLA):c.-44C>G http://identifiers.org/clinvar/222092 ^@ NM_000169.2(GLA):c.-105A>G http://identifiers.org/clinvar/222091 ^@ NM_000169.2(GLA):c.-125T>G http://identifiers.org/clinvar/222469 ^@ PIK3CA, GLU545ALA AND 2-BP DEL/1-BP INS, NT1658 http://identifiers.org/clinvar/223000 ^@ NM_152464.2(TMEM199):c.40G>C (p.Ala14Pro) http://identifiers.org/clinvar/223001 ^@ NM_152464.2(TMEM199):c.376-1G>A http://identifiers.org/clinvar/222666 ^@ NM_004980.4(KCND3):c.817G>A (p.Gly273Ser) http://identifiers.org/clinvar/222665 ^@ NM_004980.4(KCND3):c.641A>G (p.Lys214Arg) http://identifiers.org/clinvar/222522 ^@ NM_001232.3(CASQ2):c.546delT (p.Phe182Leufs) http://identifiers.org/clinvar/222690 ^@ NM_170707.3(LMNA):c.263C>G (p.Ala88Gly) http://identifiers.org/clinvar/222695 ^@ NM_170707.3(LMNA):c.354_355delGCinsAG (p.Arg119Gly) http://identifiers.org/clinvar/222691 ^@ NM_170707.3(LMNA):c.378C>G (p.Asp126Glu) http://identifiers.org/clinvar/222692 ^@ NM_001282625.1(LMNA):c.448A>G (p.Thr150Ala) http://identifiers.org/clinvar/222693 ^@ NM_170707.3(LMNA):c.661C>T (p.Arg221Cys) http://identifiers.org/clinvar/222694 ^@ NM_170707.3(LMNA):c.937-8C>A http://identifiers.org/clinvar/222762 ^@ NM_014625.3(NPHS2):c.353C>T (p.Pro118Leu) http://identifiers.org/clinvar/222842 ^@ NM_001276347.1(TNNT2):c.635T>A (p.Leu212Gln) http://identifiers.org/clinvar/222841 ^@ NM_000364.3(TNNT2):c.572T>G (p.Met191Arg) http://identifiers.org/clinvar/222834 ^@ NM_001135599.3(TGFB2):c.454dupA (p.Arg152Lysfs) http://identifiers.org/clinvar/222832 ^@ NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) http://identifiers.org/clinvar/222833 ^@ NM_001135599.3(TGFB2):c.1321T>A (p.Cys441Ser) http://identifiers.org/clinvar/222819 ^@ NM_003036.3(SKI):c.352G>A (p.Glu118Lys) http://identifiers.org/clinvar/222820 ^@ NM_003036.3(SKI):c.1081G>A (p.Gly361Ser) http://identifiers.org/clinvar/222821 ^@ NM_003036.3(SKI):c.1243G>A (p.Val415Met) http://identifiers.org/clinvar/222822 ^@ NM_003036.3(SKI):c.*1_*3delATT http://identifiers.org/clinvar/222484 ^@ NM_001278343.1(ACTN2):c.1906G>A (p.Glu636Lys) http://identifiers.org/clinvar/222485 ^@ NM_001278343.1(ACTN2):c.2387G>T (p.Arg796Leu) http://identifiers.org/clinvar/222486 ^@ NM_001103.3(ACTN2):c.2416C>T (p.Gln806Ter) http://identifiers.org/clinvar/222783 ^@ NM_001035.2(RYR2):c.378T>A (p.Ser126Arg) http://identifiers.org/clinvar/222784 ^@ NM_001035.2(RYR2):c.1238C>T (p.Ser413Leu) http://identifiers.org/clinvar/222785 ^@ NM_001035.2(RYR2):c.1604A>G (p.Glu535Gly) http://identifiers.org/clinvar/222786 ^@ NM_001035.2(RYR2):c.3839C>G (p.Ser1280Cys) http://identifiers.org/clinvar/222787 ^@ NM_001035.2(RYR2):c.5204G>A (p.Ser1735Asn) http://identifiers.org/clinvar/222788 ^@ NM_001035.2(RYR2):c.5663G>A (p.Arg1888Gln) http://identifiers.org/clinvar/222789 ^@ NM_001035.2(RYR2):c.6022+5G>A http://identifiers.org/clinvar/222790 ^@ NM_001035.2(RYR2):c.6203G>T (p.Arg2068Leu) http://identifiers.org/clinvar/222791 ^@ NM_001035.2(RYR2):c.8018C>T (p.Ala2673Val) http://identifiers.org/clinvar/222792 ^@ NM_001035.2(RYR2):c.10096C>T (p.Leu3366Phe) http://identifiers.org/clinvar/222793 ^@ NM_001035.2(RYR2):c.10471C>G (p.Leu3491Val) http://identifiers.org/clinvar/222794 ^@ NM_001035.2(RYR2):c.12837G>A (p.Met4279Ile) http://identifiers.org/clinvar/222795 ^@ NM_001035.2(RYR2):c.13130C>T (p.Ser4377Leu) http://identifiers.org/clinvar/222798 ^@ NM_001035.2(RYR2):c.13282_13284delGAA (p.Glu4428del) http://identifiers.org/clinvar/222796 ^@ NM_001035.2(RYR2):c.13285A>T (p.Lys4429Ter) http://identifiers.org/clinvar/222797 ^@ NM_001035.2(RYR2):c.14172G>C (p.Trp4724Cys) http://identifiers.org/clinvar/222849 ^@ NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) http://identifiers.org/clinvar/222848 ^@ NM_032588.3(TRIM63):c.325T>A (p.Cys109Ser) http://identifiers.org/clinvar/222847 ^@ NM_032588.3(TRIM63):c.224G>A (p.Cys75Tyr) http://identifiers.org/clinvar/222753 ^@ NM_144573.3(NEXN):c.1400T>C (p.Ile467Thr) http://identifiers.org/clinvar/222754 ^@ NM_144573.3(NEXN):c.1589_1590delGA (p.Arg530Lysfs) http://identifiers.org/clinvar/222640 ^@ NM_201555.1(FHL2):c.815G>A (p.Cys272Tyr) http://identifiers.org/clinvar/222639 ^@ NM_201555.1(FHL2):c.715T>G (p.Phe239Val) http://identifiers.org/clinvar/222638 ^@ NM_201555.1(FHL2):c.340A>G (p.Lys114Glu) http://identifiers.org/clinvar/222637 ^@ NM_201555.1(FHL2):c.236C>T (p.Pro79Leu) http://identifiers.org/clinvar/222864 ^@ NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) http://identifiers.org/clinvar/222863 ^@ NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) http://identifiers.org/clinvar/222875 ^@ NM_001267550.2(TTN):c.94249delG (p.Val31417Serfs) http://identifiers.org/clinvar/222862 ^@ NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) http://identifiers.org/clinvar/222874 ^@ NM_001267550.2(TTN):c.87849delA (p.Leu29283Phefs) http://identifiers.org/clinvar/222879 ^@ NM_001267550.2(TTN):c.83789_83790delAA (p.Glu27930Glyfs) http://identifiers.org/clinvar/222861 ^@ NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) http://identifiers.org/clinvar/222873 ^@ NM_001267550.2(TTN):c.76373delC (p.Pro25458Glnfs) http://identifiers.org/clinvar/222878 ^@ NM_001267550.2(TTN):c.75314dupA (p.Val25106Glyfs) http://identifiers.org/clinvar/222877 ^@ NM_001267550.2(TTN):c.69639dupT (p.Val23214Cysfs) http://identifiers.org/clinvar/222860 ^@ NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) http://identifiers.org/clinvar/222869 ^@ NM_001267550.2(TTN):c.67637-2A>G http://identifiers.org/clinvar/222868 ^@ NM_001267550.2(TTN):c.65576-2A>G http://identifiers.org/clinvar/222859 ^@ NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) http://identifiers.org/clinvar/222872 ^@ NM_001267550.2(TTN):c.54990dupT (p.Thr18331Tyrfs) http://identifiers.org/clinvar/222867 ^@ NM_001267550.2(TTN):c.45896-2A>G http://identifiers.org/clinvar/222871 ^@ NM_001267550.2(TTN):c.34132delC (p.Leu11378Tyrfs) http://identifiers.org/clinvar/222866 ^@ NM_001267550.2(TTN):c.29962+1G>T http://identifiers.org/clinvar/222876 ^@ NM_001267550.2(TTN):c.12870dupA (p.Val4291Serfs) http://identifiers.org/clinvar/222870 ^@ NM_133379.4(TTN):c.13939delG (p.Glu4647Lysfs) http://identifiers.org/clinvar/222858 ^@ NM_133379.4(TTN):c.11794G>T (p.Glu3932Ter) http://identifiers.org/clinvar/222857 ^@ NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) http://identifiers.org/clinvar/222865 ^@ NM_001267550.2(TTN):c.7330+5G>C http://identifiers.org/clinvar/222523 ^@ NM_000090.3(COL3A1):c.3755A>T (p.Asp1252Val) http://identifiers.org/clinvar/222529 ^@ NM_000393.4(COL5A2):c.989G>A (p.Gly330Asp) http://identifiers.org/clinvar/222528 ^@ NM_000393.4(COL5A2):c.463C>T (p.Arg155Cys) http://identifiers.org/clinvar/222527 ^@ NM_000393.4(COL5A2):c.430G>A (p.Gly144Arg) http://identifiers.org/clinvar/222513 ^@ NM_001204.6(BMPR2):c.439C>T (p.Arg147Ter) http://identifiers.org/clinvar/222514 ^@ NM_001204.6(BMPR2):c.1276G>C (p.Gly426Arg) http://identifiers.org/clinvar/222541 ^@ NM_001927.3(DES):c.212C>T (p.Ala71Val) http://identifiers.org/clinvar/222542 ^@ NM_001927.3(DES):c.643G>A (p.Val215Met) http://identifiers.org/clinvar/222543 ^@ NM_001927.3(DES):c.1234G>A (p.Glu412Lys) http://identifiers.org/clinvar/222544 ^@ NM_001927.3(DES):c.1297C>A (p.Pro433Thr) http://identifiers.org/clinvar/222478 ^@ NM_022436.2(ABCG5):c.978delA (p.Glu326Aspfs) http://identifiers.org/clinvar/222741 ^@ NM_053025.3(MYLK):c.5447G>A (p.Arg1816His) http://identifiers.org/clinvar/222740 ^@ NM_053025.3(MYLK):c.4790C>T (p.Thr1597Met) http://identifiers.org/clinvar/222776 ^@ NM_002880.3(RAF1):c.1537-3T>C http://identifiers.org/clinvar/222775 ^@ NM_002880.3(RAF1):c.1220T>A (p.Leu407His) http://identifiers.org/clinvar/222774 ^@ NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) http://identifiers.org/clinvar/222840 ^@ NM_024334.2(TMEM43):c.803G>T (p.Arg268Leu) http://identifiers.org/clinvar/222838 ^@ NM_003242.5(TGFBR2):c.773T>A (p.Val258Asp) http://identifiers.org/clinvar/222839 ^@ NM_003242.5(TGFBR2):c.1052G>A (p.Gly351Asp) http://identifiers.org/clinvar/222645 ^@ NM_015141.3(GPD1L):c.692G>A (p.Arg231His) http://identifiers.org/clinvar/222813 ^@ NM_001099404.1(SCN5A):c.5075T>C (p.Phe1692Ser) http://identifiers.org/clinvar/222812 ^@ NM_198056.2(SCN5A):c.4675A>G (p.Ile1559Val) http://identifiers.org/clinvar/222811 ^@ NM_198056.2(SCN5A):c.4517C>T (p.Pro1506Leu) http://identifiers.org/clinvar/222814 ^@ NM_198056.2(SCN5A):c.4477_4479delAAG (p.Lys1493del) http://identifiers.org/clinvar/222810 ^@ NM_001099404.1(SCN5A):c.4267G>A (p.Asp1423Asn) http://identifiers.org/clinvar/222809 ^@ NM_001099404.1(SCN5A):c.4132G>A (p.Val1378Met) http://identifiers.org/clinvar/222808 ^@ NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) http://identifiers.org/clinvar/222807 ^@ NM_198056.2(SCN5A):c.2399G>A (p.Arg800His) http://identifiers.org/clinvar/222815 ^@ NM_198056.2(SCN5A):c.2176_2177dupTG (p.Ile727Alafs) http://identifiers.org/clinvar/222806 ^@ NM_001099405.1(SCN5A):c.1671C>G (p.His557Gln) http://identifiers.org/clinvar/222805 ^@ NM_001099404.1(SCN5A):c.1252G>T (p.Glu418Ter) http://identifiers.org/clinvar/222804 ^@ NM_000335.4(SCN5A):c.1036G>A (p.Glu346Lys) http://identifiers.org/clinvar/222803 ^@ NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) http://identifiers.org/clinvar/222802 ^@ NM_000335.4(SCN5A):c.725C>T (p.Ala242Val) http://identifiers.org/clinvar/222801 ^@ NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) http://identifiers.org/clinvar/222738 ^@ NM_000258.2(MYL3):c.571C>G (p.His191Asp) http://identifiers.org/clinvar/222739 ^@ NM_000258.2(MYL3):c.560-3C>T http://identifiers.org/clinvar/222737 ^@ NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) http://identifiers.org/clinvar/222736 ^@ NM_000258.2(MYL3):c.383G>A (p.Gly128Asp) http://identifiers.org/clinvar/222684 ^@ NM_002292.3(LAMB2):c.1682G>A (p.Arg561Gln) http://identifiers.org/clinvar/222824 ^@ NM_007159.4(SLMAP):c.1918+1G>A http://identifiers.org/clinvar/222495 ^@ NM_001148.4(ANK2):c.343G>A (p.Val115Ile) http://identifiers.org/clinvar/222496 ^@ NM_001148.4(ANK2):c.478A>T (p.Thr160Ser) http://identifiers.org/clinvar/222498 ^@ NM_001148.4(ANK2):c.5509G>A (p.Ala1837Thr) http://identifiers.org/clinvar/222499 ^@ NM_001148.4(ANK2):c.5609C>T (p.Ser1870Leu) http://identifiers.org/clinvar/222500 ^@ NM_001148.4(ANK2):c.6461G>A (p.Arg2154His) http://identifiers.org/clinvar/222501 ^@ NM_001148.4(ANK2):c.7247G>A (p.Arg2416Gln) http://identifiers.org/clinvar/222502 ^@ NM_001148.4(ANK2):c.7458C>G (p.His2486Gln) http://identifiers.org/clinvar/222503 ^@ NM_001148.4(ANK2):c.7577C>T (p.Ser2526Leu) http://identifiers.org/clinvar/222504 ^@ NM_001148.4(ANK2):c.9853A>C (p.Ile3285Leu) http://identifiers.org/clinvar/222505 ^@ NM_001148.4(ANK2):c.9871C>T (p.Pro3291Ser) http://identifiers.org/clinvar/222497 ^@ NM_020977.3(ANK2):c.4626T>G (p.His1542Gln) http://identifiers.org/clinvar/222763 ^@ NM_001114107.4(PDLIM3):c.599G>A (p.Arg200His) http://identifiers.org/clinvar/222631 ^@ NM_001999.3(FBN2):c.8376C>T (p.Ile2792=) http://identifiers.org/clinvar/222630 ^@ NM_001999.3(FBN2):c.7771A>G (p.Thr2591Ala) http://identifiers.org/clinvar/222629 ^@ NM_001999.3(FBN2):c.3344A>T (p.Asp1115Val) http://identifiers.org/clinvar/222628 ^@ NM_001999.3(FBN2):c.3295C>T (p.Arg1099Cys) http://identifiers.org/clinvar/222627 ^@ NM_001999.3(FBN2):c.3160C>T (p.Arg1054Cys) http://identifiers.org/clinvar/222633 ^@ NM_001999.3(FBN2):c.2065_2066delGCinsAA (p.Ala689Asn) http://identifiers.org/clinvar/222626 ^@ NM_001999.3(FBN2):c.1961G>A (p.Arg654His) http://identifiers.org/clinvar/222632 ^@ NM_001999.3(FBN2):c.1849+8A>G http://identifiers.org/clinvar/222817 ^@ NM_004168.3(SDHA):c.830C>T (p.Thr277Met) http://identifiers.org/clinvar/222683 ^@ NM_002290.4(LAMA4):c.3542T>G (p.Leu1181Arg) http://identifiers.org/clinvar/222682 ^@ NM_001105206.2(LAMA4):c.2493G>A (p.Lys831=) http://identifiers.org/clinvar/222681 ^@ NM_002290.4(LAMA4):c.2168G>A (p.Arg723His) http://identifiers.org/clinvar/222680 ^@ NM_001105206.2(LAMA4):c.1962G>A (p.Ala654=) http://identifiers.org/clinvar/222679 ^@ NM_001105206.2(LAMA4):c.1121G>A (p.Ser374Asn) http://identifiers.org/clinvar/222599 ^@ NM_172103.3(EYA4):c.593G>A (p.Ser198Asn) http://identifiers.org/clinvar/222826 ^@ NM_182961.3(SYNE1):c.16923G>T (p.Leu5641Phe) http://identifiers.org/clinvar/222650 ^@ NM_000410.3(HFE):c.200G>T (p.Arg67Leu) http://identifiers.org/clinvar/222651 ^@ NM_000410.3(HFE):c.502G>C (p.Glu168Gln) http://identifiers.org/clinvar/222570 ^@ NM_004415.3(DSP):c.55C>T (p.Arg19Cys) http://identifiers.org/clinvar/222571 ^@ NM_004415.3(DSP):c.265G>A (p.Val89Met) http://identifiers.org/clinvar/222589 ^@ NM_004415.3(DSP):c.598-4G>A http://identifiers.org/clinvar/222590 ^@ NM_004415.3(DSP):c.1140+2T>G http://identifiers.org/clinvar/222572 ^@ NM_004415.3(DSP):c.1348C>G (p.Pro450Ala) http://identifiers.org/clinvar/222573 ^@ NM_004415.3(DSP):c.1901C>G (p.Thr634Arg) http://identifiers.org/clinvar/222574 ^@ NM_004415.3(DSP):c.2047G>A (p.Glu683Lys) http://identifiers.org/clinvar/222575 ^@ NM_004415.3(DSP):c.2432T>C (p.Leu811Pro) http://identifiers.org/clinvar/222576 ^@ NM_004415.3(DSP):c.2597G>A (p.Arg866His) http://identifiers.org/clinvar/222577 ^@ NM_004415.3(DSP):c.3134G>A (p.Arg1045Gln) http://identifiers.org/clinvar/222578 ^@ NM_004415.3(DSP):c.4803G>A (p.Met1601Ile) http://identifiers.org/clinvar/222579 ^@ NM_004415.3(DSP):c.4808G>A (p.Arg1603Lys) http://identifiers.org/clinvar/222580 ^@ NM_004415.3(DSP):c.5066T>C (p.Ile1689Thr) http://identifiers.org/clinvar/222591 ^@ NM_004415.3(DSP):c.5379+8C>G http://identifiers.org/clinvar/222581 ^@ NM_004415.3(DSP):c.5617C>T (p.Arg1873Cys) http://identifiers.org/clinvar/222592 ^@ NM_004415.3(DSP):c.5725delA (p.Ile1909Leufs) http://identifiers.org/clinvar/222582 ^@ NM_004415.3(DSP):c.5851C>T (p.Arg1951Ter) http://identifiers.org/clinvar/222583 ^@ NM_004415.3(DSP):c.6859A>T (p.Thr2287Ser) http://identifiers.org/clinvar/222584 ^@ NM_004415.3(DSP):c.7213C>A (p.Leu2405Ile) http://identifiers.org/clinvar/222585 ^@ NM_004415.3(DSP):c.7249G>T (p.Asp2417Tyr) http://identifiers.org/clinvar/222586 ^@ NM_004415.3(DSP):c.7855A>G (p.Ile2619Val) http://identifiers.org/clinvar/222587 ^@ NM_004415.3(DSP):c.7924G>A (p.Val2642Ile) http://identifiers.org/clinvar/222588 ^@ NM_004415.3(DSP):c.7934T>C (p.Ile2645Thr) http://identifiers.org/clinvar/222673 ^@ NM_000238.3(KCNH2):c.2692+8G>A http://identifiers.org/clinvar/222671 ^@ NM_000238.3(KCNH2):c.2236G>T (p.Ala746Ser) http://identifiers.org/clinvar/222670 ^@ NM_000238.3(KCNH2):c.2216A>G (p.His739Arg) http://identifiers.org/clinvar/222669 ^@ NM_000238.3(KCNH2):c.1888G>A (p.Val630Ile) http://identifiers.org/clinvar/222668 ^@ NM_172056.2(KCNH2):c.1874T>C (p.Val625Ala) http://identifiers.org/clinvar/222675 ^@ NM_000238.3(KCNH2):c.1402dupC (p.Leu468Profs) http://identifiers.org/clinvar/222674 ^@ NM_000238.3(KCNH2):c.774dupC (p.Asp259Argfs) http://identifiers.org/clinvar/222667 ^@ NM_000238.3(KCNH2):c.448C>T (p.Pro150Ser) http://identifiers.org/clinvar/222672 ^@ NM_000238.3(KCNH2):c.77-5C>T http://identifiers.org/clinvar/222771 ^@ NM_016203.3(PRKAG2):c.1475T>A (p.Ile492Asn) http://identifiers.org/clinvar/222770 ^@ NM_016203.3(PRKAG2):c.1310C>G (p.Ala437Gly) http://identifiers.org/clinvar/222769 ^@ NM_016203.3(PRKAG2):c.868A>G (p.Lys290Glu) http://identifiers.org/clinvar/222768 ^@ NM_016203.3(PRKAG2):c.410A>T (p.Asn137Ile) http://identifiers.org/clinvar/222553 ^@ NM_001039350.2(DPP6):c.482C>T (p.Pro161Leu) http://identifiers.org/clinvar/222554 ^@ NM_001039350.2(DPP6):c.847G>A (p.Ala283Thr) http://identifiers.org/clinvar/222555 ^@ NM_001039350.2(DPP6):c.1885C>T (p.Arg629Trp) http://identifiers.org/clinvar/222518 ^@ NM_000722.3(CACNA2D1):c.439C>T (p.Pro147Ser) http://identifiers.org/clinvar/222487 ^@ NM_005751.4(AKAP9):c.1067A>T (p.Asp356Val) http://identifiers.org/clinvar/222488 ^@ NM_005751.4(AKAP9):c.5272G>C (p.Asp1758His) http://identifiers.org/clinvar/222489 ^@ NM_005751.4(AKAP9):c.8656A>G (p.Ile2886Val) http://identifiers.org/clinvar/222490 ^@ NM_005751.4(AKAP9):c.9112C>T (p.Arg3038Cys) http://identifiers.org/clinvar/222494 ^@ NM_005751.4(AKAP9):c.9338dupA (p.Ser3114Glufs) http://identifiers.org/clinvar/222491 ^@ NM_005751.4(AKAP9):c.10163G>C (p.Arg3388Thr) http://identifiers.org/clinvar/222492 ^@ NM_005751.4(AKAP9):c.11276C>T (p.Pro3759Leu) http://identifiers.org/clinvar/222493 ^@ NM_005751.4(AKAP9):c.11498C>G (p.Ser3833Ter) http://identifiers.org/clinvar/222524 ^@ NM_000093.4(COL5A1):c.4126T>C (p.Ser1376Pro) http://identifiers.org/clinvar/222525 ^@ NM_000093.4(COL5A1):c.4909C>T (p.Arg1637Cys) http://identifiers.org/clinvar/222526 ^@ NM_000093.4(COL5A1):c.5217C>A (p.His1739Gln) http://identifiers.org/clinvar/222759 ^@ NM_017617.4(NOTCH1):c.6422C>T (p.Ser2141Leu) http://identifiers.org/clinvar/222758 ^@ NM_017617.4(NOTCH1):c.6205G>A (p.Ala2069Thr) http://identifiers.org/clinvar/222757 ^@ NM_017617.4(NOTCH1):c.5014C>T (p.Arg1672Cys) http://identifiers.org/clinvar/222756 ^@ NM_017617.4(NOTCH1):c.1342C>T (p.Arg448Ter) http://identifiers.org/clinvar/222755 ^@ NM_017617.4(NOTCH1):c.695C>A (p.Thr232Asn) http://identifiers.org/clinvar/222836 ^@ NM_004612.3(TGFBR1):c.222A>C (p.Glu74Asp) http://identifiers.org/clinvar/222837 ^@ NM_004612.3(TGFBR1):c.935G>A (p.Gly312Asp) http://identifiers.org/clinvar/222777 ^@ NM_001134363.2(RBM20):c.611C>T (p.Pro204Leu) http://identifiers.org/clinvar/222778 ^@ NM_001134363.2(RBM20):c.1281G>A (p.Trp427Ter) http://identifiers.org/clinvar/222779 ^@ NM_001134363.2(RBM20):c.1606A>G (p.Ile536Val) http://identifiers.org/clinvar/222780 ^@ NM_001134363.2(RBM20):c.2173G>A (p.Glu725Lys) http://identifiers.org/clinvar/222781 ^@ NM_001134363.2(RBM20):c.2338G>C (p.Gly780Arg) http://identifiers.org/clinvar/222782 ^@ NM_001134363.2(RBM20):c.3496T>C (p.Cys1166Arg) http://identifiers.org/clinvar/222818 ^@ NM_007373.3(SHOC2):c.1582C>T (p.Pro528Ser) http://identifiers.org/clinvar/222509 ^@ NM_004281.3(BAG3):c.55C>T (p.Arg19Cys) http://identifiers.org/clinvar/222510 ^@ NM_004281.3(BAG3):c.284C>T (p.Pro95Leu) http://identifiers.org/clinvar/222511 ^@ NM_004281.3(BAG3):c.668C>G (p.Pro223Arg) http://identifiers.org/clinvar/222512 ^@ NM_004281.3(BAG3):c.909+1G>A http://identifiers.org/clinvar/222521 ^@ NM_000724.3(CACNB2):c.169-8C>T http://identifiers.org/clinvar/222519 ^@ NM_201596.2(CACNB2):c.1399C>T (p.Pro467Ser) http://identifiers.org/clinvar/222520 ^@ NM_000724.3(CACNB2):c.1429T>G (p.Ser477Ala) http://identifiers.org/clinvar/222752 ^@ NM_006393.2(NEBL):c.2616G>T (p.Lys872Asn) http://identifiers.org/clinvar/222751 ^@ NM_006393.2(NEBL):c.1255G>T (p.Glu419Ter) http://identifiers.org/clinvar/222750 ^@ NM_006393.2(NEBL):c.658G>A (p.Val220Met) http://identifiers.org/clinvar/222772 ^@ NM_001098512.2(PRKG1):c.1031A>G (p.Lys344Arg) http://identifiers.org/clinvar/222773 ^@ NM_006258.3(PRKG1):c.1423A>G (p.Thr475Ala) http://identifiers.org/clinvar/222540 ^@ NM_013266.3(CTNNA3):c.2430delA (p.Ala811Profs) http://identifiers.org/clinvar/222539 ^@ NM_013266.3(CTNNA3):c.2053A>G (p.Ser685Gly) http://identifiers.org/clinvar/222538 ^@ NM_013266.3(CTNNA3):c.1073C>A (p.Thr358Asn) http://identifiers.org/clinvar/222537 ^@ NM_013266.3(CTNNA3):c.622C>T (p.Arg208Ter) http://identifiers.org/clinvar/222536 ^@ NM_013266.3(CTNNA3):c.232C>T (p.Gln78Ter) http://identifiers.org/clinvar/222747 ^@ NM_032578.3(MYPN):c.35T>C (p.Ile12Thr) http://identifiers.org/clinvar/222748 ^@ NM_001256267.1(MYPN):c.757G>C (p.Gly253Arg) http://identifiers.org/clinvar/222749 ^@ NM_001256267.1(MYPN):c.2981T>G (p.Met994Arg) http://identifiers.org/clinvar/222887 ^@ NM_014000.2(VCL):c.565G>A (p.Val189Met) http://identifiers.org/clinvar/222888 ^@ NM_014000.2(VCL):c.1559G>A (p.Arg520Gln) http://identifiers.org/clinvar/222889 ^@ NM_014000.2(VCL):c.2468G>A (p.Arg823Gln) http://identifiers.org/clinvar/222686 ^@ NM_007078.2(LDB3):c.494G>A (p.Arg165Gln) http://identifiers.org/clinvar/222687 ^@ NM_007078.2(LDB3):c.1049C>T (p.Thr350Ile) http://identifiers.org/clinvar/222480 ^@ NM_001141945.2(ACTA2):c.146T>A (p.Met49Lys) http://identifiers.org/clinvar/222479 ^@ NM_001141945.2(ACTA2):c.142G>T (p.Gly48Ter) http://identifiers.org/clinvar/222508 ^@ NM_014391.2(ANKRD1):c.896C>A (p.Thr299Asn) http://identifiers.org/clinvar/222507 ^@ NM_014391.2(ANKRD1):c.612G>T (p.Leu204Phe) http://identifiers.org/clinvar/222506 ^@ NM_014391.2(ANKRD1):c.229C>G (p.Gln77Glu) http://identifiers.org/clinvar/222850 ^@ NM_004621.5(TRPC6):c.523C>T (p.Arg175Trp) http://identifiers.org/clinvar/222531 ^@ NM_001885.2(CRYAB):c.31C>T (p.Arg11Cys) http://identifiers.org/clinvar/222530 ^@ NM_001885.2(CRYAB):c.22C>T (p.Pro8Ser) http://identifiers.org/clinvar/222800 ^@ NM_018400.3(SCN3B):c.587C>G (p.Ser196Cys) http://identifiers.org/clinvar/222799 ^@ NM_018400.3(SCN3B):c.60T>G (p.Ser20Arg) http://identifiers.org/clinvar/222533 ^@ NM_003476.4(CSRP3):c.388G>C (p.Ala130Pro) http://identifiers.org/clinvar/222532 ^@ NM_003476.4(CSRP3):c.353A>G (p.Glu118Gly) http://identifiers.org/clinvar/222534 ^@ NM_003476.4(CSRP3):c.112+1G>A http://identifiers.org/clinvar/222535 ^@ NM_003476.4(CSRP3):c.49delG (p.Val17Serfs) http://identifiers.org/clinvar/222890 ^@ NM_024426.4(WT1):c.1250G>T (p.Gly417Val) http://identifiers.org/clinvar/222711 ^@ NM_000256.3(MYBPC3):c.3814+2T>C http://identifiers.org/clinvar/222710 ^@ NM_000256.3(MYBPC3):c.3331-2A>C http://identifiers.org/clinvar/222702 ^@ NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) http://identifiers.org/clinvar/222709 ^@ NM_000256.3(MYBPC3):c.3043dupG (p.Ala1015Glyfs) http://identifiers.org/clinvar/222701 ^@ NM_000256.3(MYBPC3):c.2097delA (p.Asp700Metfs) http://identifiers.org/clinvar/222708 ^@ NM_000256.3(MYBPC3):c.1927+2T>C http://identifiers.org/clinvar/222707 ^@ NM_000256.3(MYBPC3):c.1625-1G>A http://identifiers.org/clinvar/222700 ^@ NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) http://identifiers.org/clinvar/222706 ^@ NM_000256.3(MYBPC3):c.1153_1168del16 (p.Val385Metfs) http://identifiers.org/clinvar/222705 ^@ NM_000256.3(MYBPC3):c.441_442delTG (p.Gly148Serfs) http://identifiers.org/clinvar/222704 ^@ NM_000256.3(MYBPC3):c.357delA (p.Ala120Profs) http://identifiers.org/clinvar/222699 ^@ NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) http://identifiers.org/clinvar/222703 ^@ NM_000256.3(MYBPC3):c.145_150delATCAGCinsTGATGAG (p.Ile49Terfs) http://identifiers.org/clinvar/222652 ^@ NM_001014795.2(ILK):c.446G>A (p.Arg149Gln) http://identifiers.org/clinvar/222653 ^@ NM_001014795.2(ILK):c.734T>A (p.Phe245Tyr) http://identifiers.org/clinvar/222735 ^@ NM_000432.3(MYL2):c.262G>A (p.Glu88Lys) http://identifiers.org/clinvar/222678 ^@ NM_004982.3(KCNJ8):c.83G>C (p.Arg28Pro) http://identifiers.org/clinvar/222475 ^@ NM_020297.3(ABCC9):c.4637G>T (p.Arg1546Leu) http://identifiers.org/clinvar/222477 ^@ NM_005691.3(ABCC9):c.4570_4572delTTAinsAAAT (p.Leu1524Lysfs) http://identifiers.org/clinvar/222474 ^@ NM_020297.3(ABCC9):c.3284G>A (p.Arg1095His) http://identifiers.org/clinvar/222473 ^@ NM_020297.3(ABCC9):c.1985T>C (p.Leu662Pro) http://identifiers.org/clinvar/222476 ^@ NM_020297.3(ABCC9):c.1884delT (p.Phe628Leufs) http://identifiers.org/clinvar/222515 ^@ NM_001129835.1(CACNA1C):c.2570C>T (p.Pro857Leu) http://identifiers.org/clinvar/222516 ^@ NM_001129838.1(CACNA1C):c.5558C>T (p.Thr1853Met) http://identifiers.org/clinvar/222517 ^@ NM_000719.6(CACNA1C):c.5626A>G (p.Lys1876Glu) http://identifiers.org/clinvar/222765 ^@ NM_004572.3(PKP2):c.2482G>A (p.Gly828Ser) http://identifiers.org/clinvar/222766 ^@ NM_004572.3(PKP2):c.1034+1G>A http://identifiers.org/clinvar/222764 ^@ NM_004572.3(PKP2):c.980G>T (p.Gly327Val) http://identifiers.org/clinvar/222767 ^@ NM_004572.3(PKP2):c.926_928dupCCG (p.Ala309_Val310insAla) http://identifiers.org/clinvar/222856 ^@ NM_005726.5(TSFM):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/222718 ^@ NM_002471.3(MYH6):c.5336C>A (p.Ala1779Asp) http://identifiers.org/clinvar/222717 ^@ NM_002471.3(MYH6):c.4918G>A (p.Glu1640Lys) http://identifiers.org/clinvar/222716 ^@ NM_002471.3(MYH6):c.3133A>G (p.Lys1045Glu) http://identifiers.org/clinvar/222715 ^@ NM_002471.3(MYH6):c.2612G>A (p.Arg871His) http://identifiers.org/clinvar/222714 ^@ NM_002471.3(MYH6):c.1171C>A (p.Leu391Met) http://identifiers.org/clinvar/222713 ^@ NM_002471.3(MYH6):c.1048G>A (p.Val350Ile) http://identifiers.org/clinvar/222719 ^@ NM_002471.3(MYH6):c.1002+3G>A http://identifiers.org/clinvar/222734 ^@ NM_000257.3(MYH7):c.5741_5744delAGTCinsT (p.Glu1914_Ser1915delinsVal) http://identifiers.org/clinvar/222731 ^@ NM_000257.3(MYH7):c.5071G>A (p.Val1691Met) http://identifiers.org/clinvar/222730 ^@ NM_000257.3(MYH7):c.4901G>A (p.Arg1634His) http://identifiers.org/clinvar/222729 ^@ NM_000257.3(MYH7):c.4717G>A (p.Glu1573Lys) http://identifiers.org/clinvar/222728 ^@ NM_000257.3(MYH7):c.4510A>T (p.Asn1504Tyr) http://identifiers.org/clinvar/222727 ^@ NM_000257.3(MYH7):c.3929A>C (p.Gln1310Pro) http://identifiers.org/clinvar/222733 ^@ NM_000257.3(MYH7):c.3853+1G>A http://identifiers.org/clinvar/222726 ^@ NM_000257.3(MYH7):c.3830G>C (p.Arg1277Pro) http://identifiers.org/clinvar/222725 ^@ NM_000257.3(MYH7):c.3622G>A (p.Asp1208Asn) http://identifiers.org/clinvar/222724 ^@ NM_000257.3(MYH7):c.2613G>T (p.Lys871Asn) http://identifiers.org/clinvar/222723 ^@ NM_000257.3(MYH7):c.1820G>A (p.Gly607Asp) http://identifiers.org/clinvar/222722 ^@ NM_000257.3(MYH7):c.1396G>A (p.Glu466Lys) http://identifiers.org/clinvar/222721 ^@ NM_000257.3(MYH7):c.1178C>T (p.Ala393Val) http://identifiers.org/clinvar/222732 ^@ NM_000257.3(MYH7):c.733-3C>T http://identifiers.org/clinvar/222720 ^@ NM_000257.3(MYH7):c.536A>C (p.Glu179Ala) http://identifiers.org/clinvar/222827 ^@ NM_182914.2(SYNE2):c.14407delT (p.Ser4803Leufs) http://identifiers.org/clinvar/222828 ^@ NM_182914.2(SYNE2):c.19459G>A (p.Glu6487Lys) http://identifiers.org/clinvar/222835 ^@ NM_003239.4(TGFB3):c.521T>A (p.Leu174His) http://identifiers.org/clinvar/222483 ^@ NM_005159.4(ACTC1):c.1124A>G (p.Lys375Arg) http://identifiers.org/clinvar/222482 ^@ NM_005159.4(ACTC1):c.854T>C (p.Met285Thr) http://identifiers.org/clinvar/222481 ^@ NM_005159.4(ACTC1):c.191G>A (p.Arg64Lys) http://identifiers.org/clinvar/222616 ^@ NM_000138.4(FBN1):c.8339T>C (p.Leu2780Pro) http://identifiers.org/clinvar/222615 ^@ NM_000138.4(FBN1):c.8148C>G (p.Tyr2716Ter) http://identifiers.org/clinvar/222614 ^@ NM_000138.4(FBN1):c.7769G>A (p.Cys2590Tyr) http://identifiers.org/clinvar/222613 ^@ NM_000138.4(FBN1):c.7421A>G (p.Tyr2474Cys) http://identifiers.org/clinvar/222623 ^@ NM_000138.4(FBN1):c.7259delA (p.Asn2420Metfs) http://identifiers.org/clinvar/222622 ^@ NM_000138.4(FBN1):c.7151_7152delTG (p.Val2384Glyfs) http://identifiers.org/clinvar/222612 ^@ NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) http://identifiers.org/clinvar/222621 ^@ NM_000138.4(FBN1):c.7109delG (p.Gly2370Alafs) http://identifiers.org/clinvar/222611 ^@ NM_000138.4(FBN1):c.6865T>C (p.Cys2289Arg) http://identifiers.org/clinvar/222610 ^@ NM_000138.4(FBN1):c.6820T>C (p.Cys2274Arg) http://identifiers.org/clinvar/222618 ^@ NM_000138.4(FBN1):c.6739+1G>A http://identifiers.org/clinvar/222609 ^@ NM_000138.4(FBN1):c.6694T>C (p.Cys2232Arg) http://identifiers.org/clinvar/222608 ^@ NM_000138.4(FBN1):c.6038A>T (p.Asp2013Val) http://identifiers.org/clinvar/222617 ^@ NM_000138.4(FBN1):c.5918-2A>G http://identifiers.org/clinvar/222607 ^@ NM_000138.4(FBN1):c.5806A>G (p.Ser1936Gly) http://identifiers.org/clinvar/222625 ^@ NM_000138.4(FBN1):c.5016dupT (p.Ile1673Tyrfs) http://identifiers.org/clinvar/222606 ^@ NM_000138.4(FBN1):c.4815A>G (p.Glu1605=) http://identifiers.org/clinvar/222605 ^@ NM_000138.4(FBN1):c.4429G>A (p.Glu1477Lys) http://identifiers.org/clinvar/222604 ^@ NM_000138.4(FBN1):c.4330T>A (p.Cys1444Ser) http://identifiers.org/clinvar/222620 ^@ NM_000138.4(FBN1):c.4197delC (p.Phe1400Serfs) http://identifiers.org/clinvar/222624 ^@ NM_000138.4(FBN1):c.3893dupA (p.Asn1298Lysfs) http://identifiers.org/clinvar/222603 ^@ NM_000138.4(FBN1):c.3571G>A (p.Asp1191Asn) http://identifiers.org/clinvar/222602 ^@ NM_000138.4(FBN1):c.2695G>A (p.Gly899Arg) http://identifiers.org/clinvar/222601 ^@ NM_000138.4(FBN1):c.1909T>C (p.Cys637Arg) http://identifiers.org/clinvar/222619 ^@ NM_000138.4(FBN1):c.1744_1745delTG (p.Cys582Profs) http://identifiers.org/clinvar/222600 ^@ NM_000138.4(FBN1):c.338C>G (p.Ser113Cys) http://identifiers.org/clinvar/222843 ^@ NM_001018005.1(TPM1):c.44A>G (p.Lys15Arg) http://identifiers.org/clinvar/222845 ^@ NM_001018007.1(TPM1):c.175C>T (p.Arg59Trp) http://identifiers.org/clinvar/222844 ^@ NM_001018008.1(TPM1):c.70G>A (p.Ala24Thr) http://identifiers.org/clinvar/222846 ^@ NM_001018005.1(TPM1):c.257C>G (p.Ala86Gly) http://identifiers.org/clinvar/222649 ^@ NM_005477.2(HCN4):c.2261A>G (p.His754Arg) http://identifiers.org/clinvar/222648 ^@ NM_005477.2(HCN4):c.2197G>A (p.Val733Ile) http://identifiers.org/clinvar/222647 ^@ NM_005477.2(HCN4):c.1732C>T (p.Arg578Trp) http://identifiers.org/clinvar/222646 ^@ NM_005477.2(HCN4):c.559G>A (p.Ala187Thr) http://identifiers.org/clinvar/222712 ^@ NM_001040114.1(MYH11):c.2566C>T (p.Arg856Trp) http://identifiers.org/clinvar/222830 ^@ NM_003673.3(TCAP):c.49C>T (p.Arg17Cys) http://identifiers.org/clinvar/222831 ^@ NM_003673.3(TCAP):c.448G>A (p.Gly150Ser) http://identifiers.org/clinvar/222664 ^@ NM_002230.2(JUP):c.1550C>T (p.Pro517Leu) http://identifiers.org/clinvar/222663 ^@ NM_002230.2(JUP):c.1500A>T (p.Ala500=) http://identifiers.org/clinvar/222662 ^@ NM_002230.2(JUP):c.902A>G (p.Glu301Gly) http://identifiers.org/clinvar/222661 ^@ NM_002230.2(JUP):c.578T>C (p.Met193Thr) http://identifiers.org/clinvar/222660 ^@ NM_002230.2(JUP):c.560C>T (p.Ala187Val) http://identifiers.org/clinvar/222676 ^@ NM_000891.2(KCNJ2):c.211G>C (p.Asp71His) http://identifiers.org/clinvar/222677 ^@ NM_000891.2(KCNJ2):c.1268G>A (p.Arg423Gln) http://identifiers.org/clinvar/222696 ^@ NM_020774.3(MIB1):c.37G>C (p.Gly13Arg) http://identifiers.org/clinvar/222697 ^@ NM_020774.3(MIB1):c.376C>T (p.Arg126Ter) http://identifiers.org/clinvar/222698 ^@ NM_020774.3(MIB1):c.742A>G (p.Ile248Val) http://identifiers.org/clinvar/222746 ^@ NM_003803.3(MYOM1):c.4799C>T (p.Pro1600Leu) http://identifiers.org/clinvar/222745 ^@ NM_003803.3(MYOM1):c.3708C>A (p.Ser1236Arg) http://identifiers.org/clinvar/222559 ^@ NM_024422.4(DSC2):c.2012_2013delGCinsCT (p.Cys671Ser) http://identifiers.org/clinvar/222560 ^@ NM_024422.4(DSC2):c.1264-4G>A http://identifiers.org/clinvar/222558 ^@ NM_024422.4(DSC2):c.1219G>T (p.Val407Leu) http://identifiers.org/clinvar/222557 ^@ NM_024422.4(DSC2):c.824C>T (p.Thr275Met) http://identifiers.org/clinvar/222556 ^@ NM_024422.4(DSC2):c.47G>C (p.Arg16Pro) http://identifiers.org/clinvar/222744 ^@ NM_003803.3(MYOM1):c.3190C>T (p.His1064Tyr) http://identifiers.org/clinvar/222743 ^@ NM_003803.3(MYOM1):c.2138G>A (p.Arg713His) http://identifiers.org/clinvar/222561 ^@ NM_001943.4(DSG2):c.653G>A (p.Gly218Glu) http://identifiers.org/clinvar/222562 ^@ NM_001943.4(DSG2):c.792T>A (p.Asp264Glu) http://identifiers.org/clinvar/222563 ^@ NM_001943.4(DSG2):c.2110A>G (p.Ile704Val) http://identifiers.org/clinvar/222564 ^@ NM_001943.4(DSG2):c.2188A>G (p.Thr730Ala) http://identifiers.org/clinvar/222565 ^@ NM_001943.4(DSG2):c.2192A>C (p.Gln731Pro) http://identifiers.org/clinvar/222569 ^@ NM_001943.4(DSG2):c.2335-7A>G http://identifiers.org/clinvar/222566 ^@ NM_001943.4(DSG2):c.2623A>G (p.Met875Val) http://identifiers.org/clinvar/222567 ^@ NM_001943.4(DSG2):c.2664C>A (p.Phe888Leu) http://identifiers.org/clinvar/222568 ^@ NM_001943.4(DSG2):c.3265G>A (p.Gly1089Ser) http://identifiers.org/clinvar/222593 ^@ NM_001198942.1(DTNA):c.265G>T (p.Ala89Ser) http://identifiers.org/clinvar/222596 ^@ NM_032975.3(DTNA):c.1713G>A (p.Met571Ile) http://identifiers.org/clinvar/222594 ^@ NM_001198942.1(DTNA):c.1214C>T (p.Thr405Met) http://identifiers.org/clinvar/222595 ^@ NM_001198942.1(DTNA):c.1246G>A (p.Asp416Asn) http://identifiers.org/clinvar/222688 ^@ NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) http://identifiers.org/clinvar/222689 ^@ NM_000527.4(LDLR):c.1486_1487delGG (p.Gly496Hisfs) http://identifiers.org/clinvar/222761 ^@ NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) http://identifiers.org/clinvar/222760 ^@ NM_004646.3(NPHS1):c.528T>C (p.Ser176=) http://identifiers.org/clinvar/222552 ^@ NM_001081563.2(DMPK):c.612-6G>C http://identifiers.org/clinvar/222551 ^@ NM_001081563.2(DMPK):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/222851 ^@ NM_017636.3(TRPM4):c.308A>G (p.Tyr103Cys) http://identifiers.org/clinvar/222852 ^@ NM_017636.3(TRPM4):c.1069C>T (p.Arg357Trp) http://identifiers.org/clinvar/222853 ^@ NM_017636.3(TRPM4):c.1826C>G (p.Ala609Gly) http://identifiers.org/clinvar/222855 ^@ NM_017636.3(TRPM4):c.3337C>G (p.Leu1113Val) http://identifiers.org/clinvar/222854 ^@ NM_001195227.1(TRPM4):c.3077G>A (p.Arg1026His) http://identifiers.org/clinvar/222742 ^@ NM_033118.3(MYLK2):c.1582C>T (p.Arg528Trp) http://identifiers.org/clinvar/222825 ^@ NM_003098.2(SNTA1):c.452C>T (p.Ala151Val) http://identifiers.org/clinvar/222659 ^@ NM_020433.4(JPH2):c.1564C>T (p.Arg522Trp) http://identifiers.org/clinvar/222658 ^@ NM_020433.4(JPH2):c.1540G>A (p.Gly514Ser) http://identifiers.org/clinvar/222657 ^@ NM_020433.4(JPH2):c.1282C>T (p.Gln428Ter) http://identifiers.org/clinvar/222656 ^@ NM_020433.4(JPH2):c.1227C>G (p.Asn409Lys) http://identifiers.org/clinvar/222655 ^@ NM_020433.4(JPH2):c.559G>A (p.Gly187Ser) http://identifiers.org/clinvar/222654 ^@ NM_020433.4(JPH2):c.502A>C (p.Ser168Arg) http://identifiers.org/clinvar/222823 ^@ NM_030777.3(SLC2A10):c.462C>G (p.Asn154Lys) http://identifiers.org/clinvar/222642 ^@ NM_080473.4(GATA5):c.767G>A (p.Arg256Gln) http://identifiers.org/clinvar/222641 ^@ NM_080473.4(GATA5):c.143G>T (p.Gly48Val) http://identifiers.org/clinvar/222886 ^@ NM_006440.4(TXNRD2):c.1331C>G (p.Ser444Cys) http://identifiers.org/clinvar/222885 ^@ NM_006440.4(TXNRD2):c.1322G>A (p.Arg441Gln) http://identifiers.org/clinvar/222884 ^@ NM_001282512.1(TXNRD2):c.896G>A (p.Ser299Asn) http://identifiers.org/clinvar/222883 ^@ NM_001282512.1(TXNRD2):c.337T>C (p.Tyr113His) http://identifiers.org/clinvar/222882 ^@ NM_006440.4(TXNRD2):c.236G>A (p.Arg79Gln) http://identifiers.org/clinvar/222881 ^@ NM_006440.4(TXNRD2):c.174C>T (p.Ala58=) http://identifiers.org/clinvar/222880 ^@ NM_001282512.1(TXNRD2):c.14C>T (p.Ala5Val) http://identifiers.org/clinvar/222816 ^@ NM_001169109.1(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6Glnfs) http://identifiers.org/clinvar/222643 ^@ NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) http://identifiers.org/clinvar/222644 ^@ NM_000169.2(GLA):c.823delC (p.Leu275Serfs) http://identifiers.org/clinvar/222685 ^@ NM_002294.2(LAMP2):c.1135A>G (p.Ile379Val) http://identifiers.org/clinvar/222634 ^@ NM_001159702.2(FHL1):c.292T>A (p.Ser98Thr) http://identifiers.org/clinvar/222635 ^@ NM_001167819.1(FHL1):c.764G>C (p.Cys255Ser) http://identifiers.org/clinvar/222636 ^@ NM_001159702.2(FHL1):c.965C>G (p.Ala322Gly) http://identifiers.org/clinvar/222597 ^@ NM_000117.2(EMD):c.23C>G (p.Ser8Trp) http://identifiers.org/clinvar/222598 ^@ NM_000117.2(EMD):c.406G>C (p.Asp136His) http://identifiers.org/clinvar/222829 ^@ NM_000116.4(TAZ):c.700-5C>T http://identifiers.org/clinvar/222548 ^@ NM_004006.2(DMD):c.8851C>T (p.Arg2951Cys) http://identifiers.org/clinvar/222547 ^@ NM_004009.3(DMD):c.4772C>A (p.Thr1591Lys) http://identifiers.org/clinvar/222546 ^@ NM_004006.2(DMD):c.3892G>A (p.Gly1298Arg) http://identifiers.org/clinvar/222549 ^@ NM_004006.2(DMD):c.3163-3C>A http://identifiers.org/clinvar/222545 ^@ NM_004006.2(DMD):c.2628A>T (p.Glu876Asp) http://identifiers.org/clinvar/222550 ^@ NM_004006.2(DMD):c.531-11_531-6del http://identifiers.org/clinvar/222897 ^@ NM_005957.4(MTHFR):c.1593delG (p.Lys531Asnfs) http://identifiers.org/clinvar/222896 ^@ NM_005957.4(MTHFR):c.1033C>T (p.Arg345Cys) http://identifiers.org/clinvar/222895 ^@ NM_005957.4(MTHFR):c.662delG (p.Gly221Glufs) http://identifiers.org/clinvar/222894 ^@ NM_005957.4(MTHFR):c.604C>A (p.Pro202Thr) http://identifiers.org/clinvar/222893 ^@ NM_005957.4(MTHFR):c.416C>T (p.Thr139Met) http://identifiers.org/clinvar/222892 ^@ NM_005957.4(MTHFR):c.236+1G>A http://identifiers.org/clinvar/222899 ^@ NM_007294.3(BRCA1):c.4647_4648dupAA (p.Thr1550Lysfs) http://identifiers.org/clinvar/242438 ^@ NM_001161404.1(LIMS2):c.261C>G (p.Asn87Lys) http://identifiers.org/clinvar/242437 ^@ NM_001161404.1(LIMS2):c.275C>T (p.Pro92Leu) http://identifiers.org/clinvar/222902 ^@ NM_001161404.1(LIMS2):c.953T>C (p.Leu318Pro) http://identifiers.org/clinvar/222943 ^@ NM_000255.3(MUT):c.2200C>T (p.Gln734Ter) http://identifiers.org/clinvar/222942 ^@ NM_000255.3(MUT):c.2194_2197delGCCGinsTGGAA (p.Ala732Trpfs) http://identifiers.org/clinvar/222941 ^@ NM_000255.3(MUT):c.2193_2196dupTGCC (p.Val733Cysfs) http://identifiers.org/clinvar/222940 ^@ NM_000255.3(MUT):c.2078delG (p.Gly693Aspfs) http://identifiers.org/clinvar/222939 ^@ NM_000255.3(MUT):c.1975C>T (p.Gln659Ter) http://identifiers.org/clinvar/222938 ^@ NM_000255.3(MUT):c.1874A>G (p.Asp625Gly) http://identifiers.org/clinvar/222937 ^@ NM_000255.3(MUT):c.1853T>C (p.Leu618Pro) http://identifiers.org/clinvar/222936 ^@ NM_000255.3(MUT):c.1677_1747dup71 (p.Val583Aspfs) http://identifiers.org/clinvar/222935 ^@ NM_000255.3(MUT):c.1655C>T (p.Ala552Val) http://identifiers.org/clinvar/222934 ^@ NM_000255.3(MUT):c.1489G>T (p.Glu497Ter) http://identifiers.org/clinvar/222933 ^@ NM_000255.3(MUT):c.1333-24_1333-13del http://identifiers.org/clinvar/222932 ^@ NM_000255.3(MUT):c.1277G>A (p.Gly426Glu) http://identifiers.org/clinvar/222931 ^@ NM_000255.3(MUT):c.1271C>T (p.Pro424Leu) http://identifiers.org/clinvar/222930 ^@ NM_000255.3(MUT):c.1181dupT (p.Leu394Phefs) http://identifiers.org/clinvar/222929 ^@ NM_000255.3(MUT):c.1164T>A (p.Asn388Lys) http://identifiers.org/clinvar/222927 ^@ NM_000255.3(MUT):c.1084-1G>A http://identifiers.org/clinvar/222928 ^@ NM_000255.3(MUT):c.1084-2A>G http://identifiers.org/clinvar/222926 ^@ NM_000255.3(MUT):c.977G>A (p.Arg326Lys) http://identifiers.org/clinvar/222925 ^@ NM_000255.3(MUT):c.974G>A (p.Gly325Asp) http://identifiers.org/clinvar/222924 ^@ NM_000255.3(MUT):c.927G>A (p.Trp309Ter) http://identifiers.org/clinvar/222923 ^@ NM_000255.3(MUT):c.851G>A (p.Gly284Glu) http://identifiers.org/clinvar/222922 ^@ NM_000255.3(MUT):c.850G>A (p.Gly284Arg) http://identifiers.org/clinvar/222921 ^@ NM_000255.3(MUT):c.828G>C (p.Glu276Asp) http://identifiers.org/clinvar/222920 ^@ NM_000255.3(MUT):c.693C>G (p.Tyr231Ter) http://identifiers.org/clinvar/222919 ^@ NM_000255.3(MUT):c.692dupA (p.Tyr231Terfs) http://identifiers.org/clinvar/222918 ^@ NM_000255.3(MUT):c.689C>G (p.Thr230Arg) http://identifiers.org/clinvar/222917 ^@ NM_000255.3(MUT):c.630delA (p.Glu211Argfs) http://identifiers.org/clinvar/222916 ^@ NM_000255.3(MUT):c.613_615delGAA (p.Glu205del) http://identifiers.org/clinvar/222915 ^@ NM_000255.3(MUT):c.566A>T (p.Asn189Ile) http://identifiers.org/clinvar/222914 ^@ NM_000255.3(MUT):c.560C>G (p.Thr187Ser) http://identifiers.org/clinvar/222913 ^@ NM_000255.3(MUT):c.467A>T (p.Asp156Val) http://identifiers.org/clinvar/222912 ^@ NM_000255.3(MUT):c.415G>A (p.Asp139Asn) http://identifiers.org/clinvar/222911 ^@ NM_000255.3(MUT):c.397G>A (p.Gly133Arg) http://identifiers.org/clinvar/222910 ^@ NM_000255.3(MUT):c.378C>A (p.Asn126Lys) http://identifiers.org/clinvar/222909 ^@ NM_000255.3(MUT):c.330T>G (p.Tyr110Ter) http://identifiers.org/clinvar/222908 ^@ NM_000255.3(MUT):c.129G>A (p.Trp43Ter) http://identifiers.org/clinvar/222907 ^@ NM_000255.3(MUT):c.88C>T (p.Gln30Ter) http://identifiers.org/clinvar/222906 ^@ NM_000255.3(MUT):c.55dupG (p.Val19Glyfs) http://identifiers.org/clinvar/222904 ^@ NM_000255.3(MUT):c.30dupA (p.Leu11Thrfs) http://identifiers.org/clinvar/222903 ^@ NM_000255.3(MUT):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/222905 ^@ NM_000255.3(MUT):c.-39-1G>A http://identifiers.org/clinvar/222945 ^@ NM_004425.3(ECM1):c.506dupC (p.Gly170Trpfs) http://identifiers.org/clinvar/222947 ^@ NM_004425.3(ECM1):c.507delT (p.Arg171Glyfs) http://identifiers.org/clinvar/222948 ^@ NM_004425.3(ECM1):c.658T>G (p.Cys220Gly) http://identifiers.org/clinvar/222946 ^@ NM_004425.3(ECM1):c.727C>T (p.Arg243Ter) http://identifiers.org/clinvar/222944 ^@ NM_004425.3(ECM1):c.826C>T (p.Gln276Ter) http://identifiers.org/clinvar/222949 ^@ NM_004425.3(ECM1):c.93_94delGCinsTT (p.Arg31_Gln32delinsSerTer) http://identifiers.org/clinvar/222951 ^@ NM_001079.3(ZAP70):c.574C>T (p.Arg192Trp) http://identifiers.org/clinvar/222950 ^@ NM_001079.3(ZAP70):c.1079G>C (p.Arg360Pro) http://identifiers.org/clinvar/222953 ^@ NM_014159.6(SETD2):c.6341delA (p.Asn2114Ilefs) http://identifiers.org/clinvar/222954 ^@ NM_014159.6(SETD2):c.5444T>G (p.Leu1815Trp) http://identifiers.org/clinvar/222955 ^@ NM_014159.6(SETD2):c.820C>T (p.Gln274Ter) http://identifiers.org/clinvar/222956 ^@ NM_014159.6(SETD2):c.2028delT (p.Pro677Leufs) http://identifiers.org/clinvar/222957 ^@ NM_000222.2(KIT):c.1669_1674delTGGAAG (p.Trp557_Lys558del) http://identifiers.org/clinvar/222958 ^@ NM_004054.3(C3AR1):c.355_356dupGA (p.Asp119Glufs) http://identifiers.org/clinvar/223003 ^@ NM_024408.3(NOTCH2):c.6909dupC (p.Ile2304HisfsTer9) http://identifiers.org/clinvar/222963 ^@ NM_017945.4(SLC35A5):c.353T>G (p.Leu118Arg) http://identifiers.org/clinvar/222964 ^@ NM_130446.3(KLHL6):c.268C>G (p.Leu90Val) http://identifiers.org/clinvar/222965 ^@ NM_130446.3(KLHL6):c.247T>C (p.Phe83Leu) http://identifiers.org/clinvar/222966 ^@ NM_000038.5(APC):c.2158A>G (p.Met720Val) http://identifiers.org/clinvar/222967 ^@ NM_017510.5(TMED9):c.77T>A (p.Leu26Gln) http://identifiers.org/clinvar/222968 ^@ NM_003112.4(SP4):c.2068C>T (p.Arg690Trp) http://identifiers.org/clinvar/222969 ^@ NM_198679.1(RAPGEF1):c.1715A>G (p.Tyr572Cys) http://identifiers.org/clinvar/222970 ^@ NM_002003.4(FCN1):c.454G>A (p.Gly152Arg) http://identifiers.org/clinvar/222959 ^@ NM_030938.4(VMP1):c.331_332delCT (p.Leu111Phefs) http://identifiers.org/clinvar/222960 ^@ NM_001033571.1(AMZ2):c.521C>A (p.Thr174Lys) http://identifiers.org/clinvar/222961 ^@ NM_003003.3(SEC14L1):c.100C>G (p.Pro34Ala) http://identifiers.org/clinvar/222962 ^@ NM_018959.3(DAZAP1):c.1213T>C (p.Tyr405His) http://identifiers.org/clinvar/222971 ^@ NM_002524.4(NRAS):c.71T>A (p.Ile24Asn) http://identifiers.org/clinvar/222972 ^@ NM_002834.4(PTPN11):c.181_183delGAT (p.Asp61del) http://identifiers.org/clinvar/222973 ^@ NM_004074.2(COX8A):c.115-1G>C http://identifiers.org/clinvar/222974 ^@ NM_006745.4(MSMO1):c.519T>A (p.His173Gln) http://identifiers.org/clinvar/222975 ^@ NM_006745.4(MSMO1):c.731A>G (p.Tyr244Cys) http://identifiers.org/clinvar/222976 ^@ NM_006745.4(MSMO1):c.736G>C (p.Gly246Arg) http://identifiers.org/clinvar/222977 ^@ NM_024989.3(PGAP1):c.1572T>A (p.Tyr524Ter) http://identifiers.org/clinvar/222978 ^@ NM_024989.3(PGAP1):c.1396C>T (p.Gln466Ter) http://identifiers.org/clinvar/222979 ^@ NM_024989.3(PGAP1):c.274_276delCCT (p.Pro92del) http://identifiers.org/clinvar/222980 ^@ NM_024989.3(PGAP1):c.921_925delTAAAC (p.Lys308Asnfs) http://identifiers.org/clinvar/222981 ^@ NM_024989.3(PGAP1):c.1090-2A>G http://identifiers.org/clinvar/222985 ^@ NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) http://identifiers.org/clinvar/222986 ^@ NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) http://identifiers.org/clinvar/222987 ^@ NM_001304764.1(ZNF687):c.2810C>G (p.Pro937Arg) http://identifiers.org/clinvar/222988 ^@ NM_001304764.1(ZNF687):c.725G>T (p.Ser242Ile) http://identifiers.org/clinvar/222994 ^@ NM_000203.4(IDUA):c.386-2A>G http://identifiers.org/clinvar/222996 ^@ NM_000203.4(IDUA):c.590-7G>A http://identifiers.org/clinvar/222995 ^@ NM_000203.4(IDUA):c.653T>C (p.Leu218Pro) http://identifiers.org/clinvar/222992 ^@ NM_000203.4(IDUA):c.965T>A (p.Val322Glu) http://identifiers.org/clinvar/222997 ^@ NM_000203.4(IDUA):c.1029C>A (p.Tyr343Ter) http://identifiers.org/clinvar/222993 ^@ NM_000203.4(IDUA):c.223G>A (p.Ala75Thr) http://identifiers.org/clinvar/222991 ^@ NM_000203.4(IDUA):c.236C>T (p.Ala79Val) http://identifiers.org/clinvar/222998 ^@ NM_013416.3(NCF4):c.143_152dupAAGGAGGATC (p.Lys52Argfs) http://identifiers.org/clinvar/223004 ^@ c.647C>T http://identifiers.org/clinvar/223005 ^@ c.831G>A http://identifiers.org/clinvar/223006 ^@ c.966T>C http://identifiers.org/clinvar/223007 ^@ c.972T>C http://identifiers.org/clinvar/223008 ^@ c.1069A>G http://identifiers.org/clinvar/223009 ^@ c.1284T>A http://identifiers.org/clinvar/223010 ^@ c.1393G>A http://identifiers.org/clinvar/223011 ^@ c.1401C>T http://identifiers.org/clinvar/223012 ^@ c.1412C>T http://identifiers.org/clinvar/223013 ^@ c.1432C>T http://identifiers.org/clinvar/223014 ^@ c.112G>T http://identifiers.org/clinvar/223015 ^@ c.128A>C http://identifiers.org/clinvar/223016 ^@ c.131G>A http://identifiers.org/clinvar/223017 ^@ c.146T>G http://identifiers.org/clinvar/223018 ^@ c.162C>G http://identifiers.org/clinvar/223019 ^@ c.228G>A http://identifiers.org/clinvar/223020 ^@ c.261G>C http://identifiers.org/clinvar/223021 ^@ c.261G>T http://identifiers.org/clinvar/223022 ^@ c.275C>A http://identifiers.org/clinvar/223023 ^@ c.328C>T http://identifiers.org/clinvar/223024 ^@ c.340G>A http://identifiers.org/clinvar/223025 ^@ c.398T>C http://identifiers.org/clinvar/223026 ^@ c.401C>A http://identifiers.org/clinvar/223027 ^@ c.433G>A http://identifiers.org/clinvar/223028 ^@ c.457G>A http://identifiers.org/clinvar/223029 ^@ c.467A>G http://identifiers.org/clinvar/223030 ^@ c.478T>C http://identifiers.org/clinvar/223031 ^@ c.518T>G http://identifiers.org/clinvar/223032 ^@ c.530T>C http://identifiers.org/clinvar/223033 ^@ c.605G>A http://identifiers.org/clinvar/223034 ^@ c.605G>C http://identifiers.org/clinvar/223035 ^@ c.622G>A http://identifiers.org/clinvar/223036 ^@ c.623T>G http://identifiers.org/clinvar/223037 ^@ c.665A>G http://identifiers.org/clinvar/223038 ^@ c.707T>C http://identifiers.org/clinvar/223039 ^@ c.715G>A http://identifiers.org/clinvar/223040 ^@ c.760A>C http://identifiers.org/clinvar/223041 ^@ c.847C>G http://identifiers.org/clinvar/223042 ^@ c.854T>C http://identifiers.org/clinvar/223043 ^@ c.856G>A http://identifiers.org/clinvar/223044 ^@ c.865G>A http://identifiers.org/clinvar/223045 ^@ c.866A>C http://identifiers.org/clinvar/223046 ^@ c.893G>A http://identifiers.org/clinvar/223047 ^@ c.931G>C http://identifiers.org/clinvar/223048 ^@ c.931G>A http://identifiers.org/clinvar/223049 ^@ c.931G>T http://identifiers.org/clinvar/223050 ^@ c.938T>C http://identifiers.org/clinvar/223051 ^@ c.1067T>C http://identifiers.org/clinvar/223052 ^@ c.1112T>C http://identifiers.org/clinvar/223053 ^@ c.1159G>A http://identifiers.org/clinvar/223054 ^@ c.1160G>A http://identifiers.org/clinvar/223055 ^@ c.1282G>A http://identifiers.org/clinvar/223056 ^@ c.1311G>A http://identifiers.org/clinvar/223057 ^@ c.1360G>C http://identifiers.org/clinvar/223058 ^@ c.1412C>A http://identifiers.org/clinvar/223059 ^@ c.1-11G>C http://identifiers.org/clinvar/223060 ^@ c.215-1G>C http://identifiers.org/clinvar/223061 ^@ c.516+2T>C http://identifiers.org/clinvar/223062 ^@ c.928+1G>A http://identifiers.org/clinvar/223063 ^@ c.929-3G>A http://identifiers.org/clinvar/223064 ^@ c.1160-1G>A http://identifiers.org/clinvar/223065 ^@ c.1159+2T>A http://identifiers.org/clinvar/223066 ^@ c.1160-1G>C http://identifiers.org/clinvar/223067 ^@ c.1160-2A>C http://identifiers.org/clinvar/223068 ^@ c.1160-2A>G http://identifiers.org/clinvar/223069 ^@ c.1300+1G>A http://identifiers.org/clinvar/223070 ^@ c.1300+2T>A http://identifiers.org/clinvar/223071 ^@ c.1301-1G>A http://identifiers.org/clinvar/223072 ^@ c.99insC http://identifiers.org/clinvar/223073 ^@ c.994_1011dup http://identifiers.org/clinvar/223074 ^@ c.1211insT http://identifiers.org/clinvar/223075 ^@ c.1319insG http://identifiers.org/clinvar/223076 ^@ c.1351insC http://identifiers.org/clinvar/223077 ^@ c.1431insT http://identifiers.org/clinvar/223078 ^@ c.52_53delCT http://identifiers.org/clinvar/223079 ^@ c.263_264delCC http://identifiers.org/clinvar/223080 ^@ c.720delC http://identifiers.org/clinvar/223081 ^@ c.784delC http://identifiers.org/clinvar/223083 ^@ c.1088delG http://identifiers.org/clinvar/223084 ^@ c.1193_1198delCGCTGG http://identifiers.org/clinvar/223085 ^@ c.1311delG http://identifiers.org/clinvar/223086 ^@ c.1327_1346delGACGCCCCCGCGCTCAGCGG http://identifiers.org/clinvar/223087 ^@ c.1394_1400delGCCATT http://identifiers.org/clinvar/223088 ^@ c.1010_1019del_insAA http://identifiers.org/clinvar/223091 ^@ NM_001135055.2(TKT):c.952C>T (p.Arg318Cys) http://identifiers.org/clinvar/223090 ^@ NM_001135055.2(TKT):c.769_770insCTACCTCCTTATCTTCTG (p.Trp257delinsSerThrSerLeuSerSerGly) http://identifiers.org/clinvar/223089 ^@ NM_001135055.2(TKT):c.633G>A (p.Trp211Ter) http://identifiers.org/clinvar/223092 ^@ NM_032824.2(TMEM87B):c.1366A>G (p.Asn456Asp) http://identifiers.org/clinvar/223093 ^@ NC_000002.12:g.(?_110649261)_(112345017_?)del http://identifiers.org/clinvar/223094 ^@ NM_001039590.2(USP9X):c.2554C>T (p.Arg852Ter) http://identifiers.org/clinvar/223095 ^@ NM_001039590.2(USP9X):c.3028_3148del121 http://identifiers.org/clinvar/223096 ^@ NM_001039590.2(USP9X):c.2644_2645insA (p.Arg882Glnfs) http://identifiers.org/clinvar/223097 ^@ NM_001039590.2(USP9X):c.3763C>T (p.Gln1255Ter) http://identifiers.org/clinvar/223098 ^@ NM_001039590.2(USP9X):c.1111C>T (p.Arg371Ter) http://identifiers.org/clinvar/223099 ^@ NM_174912.3(FAAH2):c.1372G>T (p.Ala458Ser) http://identifiers.org/clinvar/223100 ^@ NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) http://identifiers.org/clinvar/223101 ^@ NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro) http://identifiers.org/clinvar/223105 ^@ NM_030780.4(SLC25A32):c.425G>A (p.Trp142Ter) http://identifiers.org/clinvar/223106 ^@ NM_030780.4(SLC25A32):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/223109 ^@ NC_000015.9:g.(?_30941572)_(32509926_?)del http://identifiers.org/clinvar/223110 ^@ NC_000015.9:g.(?_32024192)_(32509926_?)dup http://identifiers.org/clinvar/223111 ^@ NC_000015.9:g.(?_31956036)_(32511581_?)dup http://identifiers.org/clinvar/223112 ^@ NC_000016.10:g.(?_29685652)_(30180586_?)dup http://identifiers.org/clinvar/223113 ^@ NC_000016.10:g.(?_29506378)_(30180574_?)dup http://identifiers.org/clinvar/223114 ^@ NC_000016.10:g.(?_29602174)_(30178709_?)dup http://identifiers.org/clinvar/223115 ^@ NC_000016.10:g.(?_29390980)_(30215610_?)dup http://identifiers.org/clinvar/223116 ^@ NC_000016.10:g.(?_29506378)_(30180574_?)del http://identifiers.org/clinvar/223117 ^@ NC_000022.10:g.(?_51027581)_(51234443_?)del http://identifiers.org/clinvar/223118 ^@ NC_000022.10:g.(?_50282986)_(51304566_?)del http://identifiers.org/clinvar/223119 ^@ NC_000022.10:g.(?_49033233)_(51193680_?)del http://identifiers.org/clinvar/223120 ^@ NC_000002.12:g.(?_109696399)_(110327308_?)dup http://identifiers.org/clinvar/223121 ^@ NC_000015.9:g.(?_22410242)_(23222284_?)del http://identifiers.org/clinvar/223122 ^@ NC_000004.12:g.(?_186013132)_(186215992_?)dup http://identifiers.org/clinvar/223123 ^@ NC_000011.10:g.(?_48359351)_(48946475_?)del http://identifiers.org/clinvar/223124 ^@ NC_000007.13:g.(?_57260919)_(57882330_?)dup http://identifiers.org/clinvar/223125 ^@ NC_000017.11:g.(?_27647231)_(27748498_?)del http://identifiers.org/clinvar/223126 ^@ NM_032564.4(DGAT2):c.667T>C (p.Tyr223His) http://identifiers.org/clinvar/223127 ^@ NM_001142864.3(PIEZO1):c.2263G>T (p.Glu755Ter) http://identifiers.org/clinvar/223128 ^@ NM_001142864.3(PIEZO1):c.4888G>T (p.Glu1630Ter) http://identifiers.org/clinvar/223129 ^@ NM_001142864.3(PIEZO1):c.6682C>T (p.Gln2228Ter) http://identifiers.org/clinvar/223130 ^@ NM_001142864.3(PIEZO1):c.3700_3796del97 http://identifiers.org/clinvar/223131 ^@ NM_001142864.3(PIEZO1):c.6511G>T (p.Val2171Phe) http://identifiers.org/clinvar/223132 ^@ NM_001142864.3(PIEZO1):c.1669+1G>A http://identifiers.org/clinvar/223133 ^@ NM_001142864.3(PIEZO1):c.7289C>T (p.Pro2430Leu) http://identifiers.org/clinvar/223134 ^@ NM_181705.3(LYRM7):c.163_244del82 http://identifiers.org/clinvar/223135 ^@ NM_181705.3(LYRM7):c.193_195dupTTA (p.Leu66_Arg67insLeu) http://identifiers.org/clinvar/223136 ^@ NM_181705.3(LYRM7):c.214C>T (p.Gln72Ter) http://identifiers.org/clinvar/223137 ^@ NM_181705.3(LYRM7):c.37delA (p.Thr13Hisfs) http://identifiers.org/clinvar/223139 ^@ NM_004333.4(BRAF):c.1408_1410delACA (p.Thr470del) http://identifiers.org/clinvar/223138 ^@ NM_004333.4(BRAF):c.1399T>G (p.Ser467Ala) http://identifiers.org/clinvar/223140 ^@ NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) http://identifiers.org/clinvar/223141 ^@ NM_213595.3(ISCU):c.418+382G>C http://identifiers.org/clinvar/223142 ^@ NM_000314.6(PTEN):c.740T>C (p.Leu247Ser) http://identifiers.org/clinvar/223145 ^@ NM_177987.2(TUBB8):c.1088T>C (p.Met363Thr) http://identifiers.org/clinvar/223146 ^@ NM_177987.2(TUBB8):c.900G>A (p.Met300Ile) http://identifiers.org/clinvar/223144 ^@ NM_177987.2(TUBB8):c.785G>A (p.Arg262Gln) http://identifiers.org/clinvar/223143 ^@ NM_177987.2(TUBB8):c.527C>T (p.Ser176Leu) http://identifiers.org/clinvar/223147 ^@ 9q21.13 deletion http://identifiers.org/clinvar/223149 ^@ NM_000267.3(NF1):c.286delG (p.Gln97Asnfs) http://identifiers.org/clinvar/223148 ^@ NM_000267.3(NF1):c.6889dupG (p.Val2297Glyfs) http://identifiers.org/clinvar/223153 ^@ NM_018129.3(PNPO):c.674G>A (p.Arg225His) http://identifiers.org/clinvar/223155 ^@ NM_001203.2(BMPR1B):c.447-1G>A http://identifiers.org/clinvar/223156 ^@ NM_001203.2(BMPR1B):c.975A>C (p.Lys325Asn) http://identifiers.org/clinvar/223159 ^@ NM_000551.3(VHL):c.163dupG (p.Glu55Glyfs) http://identifiers.org/clinvar/223205 ^@ NM_000551.3(VHL):c.189_192delGCGC (p.Ser65Terfs) http://identifiers.org/clinvar/223160 ^@ NM_000551.3(VHL):c.193T>G (p.Ser65Ala) http://identifiers.org/clinvar/223161 ^@ NM_000551.3(VHL):c.194C>A (p.Ser65Ter) http://identifiers.org/clinvar/223162 ^@ NM_000551.3(VHL):c.203C>A (p.Ser68Ter) http://identifiers.org/clinvar/223163 ^@ NM_000551.3(VHL):c.214T>C (p.Ser72Pro) http://identifiers.org/clinvar/223164 ^@ NM_000551.3(VHL):c.217C>T (p.Gln73Ter) http://identifiers.org/clinvar/223165 ^@ NM_000551.3(VHL):c.221delT (p.Val74Alafs) http://identifiers.org/clinvar/223166 ^@ NM_000551.3(VHL):c.227_229delTCT (p.Phe76del) http://identifiers.org/clinvar/223167 ^@ NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) http://identifiers.org/clinvar/223168 ^@ NM_000551.3(VHL):c.233A>C (p.Asn78Thr) http://identifiers.org/clinvar/223169 ^@ NM_000551.3(VHL):c.233A>T (p.Asn78Ile) http://identifiers.org/clinvar/223170 ^@ NM_000551.3(VHL):c.257C>G (p.Pro86Arg) http://identifiers.org/clinvar/223171 ^@ NM_000551.3(VHL):c.264G>T (p.Trp88Cys) http://identifiers.org/clinvar/223172 ^@ NM_000551.3(VHL):c.269A>T (p.Asn90Ile) http://identifiers.org/clinvar/223173 ^@ NM_000551.3(VHL):c.269delA (p.Asn90Thrfs) http://identifiers.org/clinvar/223174 ^@ NM_000551.3(VHL):c.277G>C (p.Gly93Arg) http://identifiers.org/clinvar/223175 ^@ NM_000551.3(VHL):c.277G>T (p.Gly93Cys) http://identifiers.org/clinvar/223176 ^@ NM_000551.3(VHL):c.293A>G (p.Tyr98Cys) http://identifiers.org/clinvar/223177 ^@ NM_000551.3(VHL):c.293dupA (p.Tyr98Terfs) http://identifiers.org/clinvar/223178 ^@ NM_000551.3(VHL):c.296dupC (p.Thr100Asnfs) http://identifiers.org/clinvar/223179 ^@ NM_000551.3(VHL):c.300dupG (p.Leu101Alafs) http://identifiers.org/clinvar/223180 ^@ NM_000551.3(VHL):c.309delT (p.Gly104Alafs) http://identifiers.org/clinvar/223181 ^@ NM_000551.3(VHL):c.309dupT (p.Gly104Trpfs) http://identifiers.org/clinvar/223183 ^@ NM_000551.3(VHL):c.311G>T (p.Gly104Val) http://identifiers.org/clinvar/223182 ^@ NM_000551.3(VHL):c.311_340+20del http://identifiers.org/clinvar/223184 ^@ NM_000551.3(VHL):c.320G>A (p.Arg107His) http://identifiers.org/clinvar/223186 ^@ NM_000551.3(VHL):c.332G>A (p.Ser111Asn) http://identifiers.org/clinvar/223185 ^@ NM_000551.3(VHL):c.332G>T (p.Ser111Ile) http://identifiers.org/clinvar/223187 ^@ NM_000551.3(VHL):c.333C>G (p.Ser111Arg) http://identifiers.org/clinvar/223189 ^@ NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) http://identifiers.org/clinvar/223188 ^@ NM_000551.3(VHL):c.335_340+5del11 http://identifiers.org/clinvar/223193 ^@ NM_000551.3(VHL):c.340G>C (p.Gly114Arg) http://identifiers.org/clinvar/223190 ^@ NM_000551.3(VHL):c.340+1G>A http://identifiers.org/clinvar/223191 ^@ NM_000551.3(VHL):c.340+2_340+6del http://identifiers.org/clinvar/223192 ^@ NM_000551.3(VHL):c.340+7G>C http://identifiers.org/clinvar/223196 ^@ NM_000551.3(VHL):c.341-21_341-17delAACCT http://identifiers.org/clinvar/223194 ^@ NM_000551.3(VHL):c.341-2A>G http://identifiers.org/clinvar/223195 ^@ NM_000551.3(VHL):c.341delG (p.Gly114Valfs) http://identifiers.org/clinvar/223197 ^@ NM_000551.3(VHL):c.351delG (p.Trp117Cysfs) http://identifiers.org/clinvar/223198 ^@ NM_000551.3(VHL):c.352_353insA (p.Leu118Hisfs) http://identifiers.org/clinvar/223199 ^@ NM_000551.3(VHL):c.358A>G (p.Arg120Gly) http://identifiers.org/clinvar/223200 ^@ NM_000551.3(VHL):c.362A>G (p.Asp121Gly) http://identifiers.org/clinvar/223201 ^@ NM_000551.3(VHL):c.374A>C (p.His125Pro) http://identifiers.org/clinvar/223202 ^@ NM_000551.3(VHL):c.374_375delAC (p.His125Argfs) http://identifiers.org/clinvar/223203 ^@ NM_000551.3(VHL):c.381_382delGCinsTT (p.Leu128Phe) http://identifiers.org/clinvar/223204 ^@ NM_000551.3(VHL):c.402delA (p.Glu134Aspfs) http://identifiers.org/clinvar/223206 ^@ NM_000551.3(VHL):c.414A>G (p.Pro138=) http://identifiers.org/clinvar/223207 ^@ NM_000551.3(VHL):c.419_420delTC (p.Leu140Glnfs) http://identifiers.org/clinvar/223208 ^@ NM_000551.3(VHL):c.430G>T (p.Gly144Ter) http://identifiers.org/clinvar/223209 ^@ NM_000551.3(VHL):c.431delG (p.Gly144Aspfs) http://identifiers.org/clinvar/223210 ^@ NM_000551.3(VHL):c.435_436delGC (p.Gln145Hisfs) http://identifiers.org/clinvar/223212 ^@ NM_000551.3(VHL):c.444delT (p.Phe148Leufs) http://identifiers.org/clinvar/223211 ^@ NM_000551.3(VHL):c.444dupT (p.Ala149Cysfs) http://identifiers.org/clinvar/223213 ^@ NM_000551.3(VHL):c.445G>A (p.Ala149Thr) http://identifiers.org/clinvar/223214 ^@ NM_000551.3(VHL):c.445G>C (p.Ala149Pro) http://identifiers.org/clinvar/223215 ^@ NM_000551.3(VHL):c.452T>G (p.Ile151Ser) http://identifiers.org/clinvar/223216 ^@ NM_000551.3(VHL):c.454_463+17del http://identifiers.org/clinvar/223219 ^@ NM_000551.3(VHL):c.463G>A (p.Val155Met) http://identifiers.org/clinvar/223217 ^@ NM_000551.3(VHL):c.463+1G>C http://identifiers.org/clinvar/223218 ^@ NM_000551.3(VHL):c.463+37_463+39del http://identifiers.org/clinvar/223222 ^@ NM_000551.3(VHL):c.464-2A>G http://identifiers.org/clinvar/223220 ^@ NM_000551.3(VHL):c.464-1G>C http://identifiers.org/clinvar/223221 ^@ NM_000551.3(VHL):c.464-1G>T http://identifiers.org/clinvar/223223 ^@ NM_000551.3(VHL):c.470C>T (p.Thr157Ile) http://identifiers.org/clinvar/223224 ^@ NM_000551.3(VHL):c.471dupT (p.Leu158Serfs) http://identifiers.org/clinvar/223225 ^@ NM_000551.3(VHL):c.485G>A (p.Cys162Tyr) http://identifiers.org/clinvar/223226 ^@ NM_000551.3(VHL):c.486C>A (p.Cys162Ter) http://identifiers.org/clinvar/223227 ^@ NM_000551.3(VHL):c.486C>G (p.Cys162Trp) http://identifiers.org/clinvar/223228 ^@ NM_000551.3(VHL):c.490C>T (p.Gln164Ter) http://identifiers.org/clinvar/223229 ^@ NM_000551.3(VHL):c.496_506delGTCCGGAGCCT (p.Val166Serfs) http://identifiers.org/clinvar/223230 ^@ NM_000551.3(VHL):c.540_543delCGTC (p.Val181Glyfs) http://identifiers.org/clinvar/223231 ^@ NM_000551.3(VHL):c.546delG (p.Arg182Serfs) http://identifiers.org/clinvar/223232 ^@ NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) http://identifiers.org/clinvar/223233 ^@ NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) http://identifiers.org/clinvar/223234 ^@ NM_000551.3(VHL):c.587_590dupAAGA (p.Asp197Glufs) http://identifiers.org/clinvar/223235 ^@ NM_000551.3(VHL):c.593T>C (p.Leu198Pro) http://identifiers.org/clinvar/223236 ^@ NM_000551.3(VHL):c.641G>T (p.Ter214Leu) http://identifiers.org/clinvar/223240 ^@ NM_173560.3(RFX6):c.2176C>T (p.Arg726Ter) http://identifiers.org/clinvar/223241 ^@ NM_173560.3(RFX6):c.2596C>T (p.Arg866Ter) http://identifiers.org/clinvar/223242 ^@ NM_015073.2(SIPA1L3):c.4489C>T (p.Arg1497Ter) http://identifiers.org/clinvar/223246 ^@ NM_023110.2(FGFR1):c.1884T>G (p.Asn628Lys) http://identifiers.org/clinvar/223245 ^@ NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) http://identifiers.org/clinvar/223244 ^@ NM_023110.2(FGFR1):c.1468G>C (p.Gly490Arg) http://identifiers.org/clinvar/223243 ^@ NM_023110.2(FGFR1):c.572T>C (p.Leu191Ser) http://identifiers.org/clinvar/223248 ^@ NM_015040.3(PIKFYVE):c.3150dupA (p.Asp1051Argfs) http://identifiers.org/clinvar/223249 ^@ NM_015040.3(PIKFYVE):c.2008_2190del183 http://identifiers.org/clinvar/223251 ^@ NM_001267550.2(TTN):c.1245+3A>G http://identifiers.org/clinvar/223252 ^@ NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter) http://identifiers.org/clinvar/223253 ^@ NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) http://identifiers.org/clinvar/223254 ^@ NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter) http://identifiers.org/clinvar/223255 ^@ NM_001267550.2(TTN):c.15776-1G>T http://identifiers.org/clinvar/223256 ^@ NM_001267550.2(TTN):c.40558+1G>A http://identifiers.org/clinvar/223257 ^@ NM_001267550.2(TTN):c.52128delT (p.Phe17376Leufs) http://identifiers.org/clinvar/223258 ^@ NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) http://identifiers.org/clinvar/223259 ^@ NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter) http://identifiers.org/clinvar/223260 ^@ NM_001267550.2(TTN):c.87716delG (p.Gly29239Aspfs) http://identifiers.org/clinvar/223261 ^@ NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) http://identifiers.org/clinvar/223262 ^@ NM_133379.4(TTN):c.10443delA (p.Lys3481Asnfs) http://identifiers.org/clinvar/223263 ^@ NM_133379.4(TTN):c.13660dupA (p.Ile4554Asnfs) http://identifiers.org/clinvar/223264 ^@ NM_133379.4(TTN):c.13705G>T (p.Glu4569Ter) http://identifiers.org/clinvar/223265 ^@ NM_133379.4(TTN):c.15305delC (p.Thr5102Ilefs) http://identifiers.org/clinvar/223266 ^@ NM_001267550.2(TTN):c.8307_8308delTG (p.Ala2770Hisfs) http://identifiers.org/clinvar/223267 ^@ NM_001267550.2(TTN):c.12643_12644delCA (p.Gln4215Valfs) http://identifiers.org/clinvar/223268 ^@ NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter) http://identifiers.org/clinvar/223269 ^@ NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys) http://identifiers.org/clinvar/223270 ^@ NM_001267550.2(TTN):c.29062delG (p.Ala9688Glnfs) http://identifiers.org/clinvar/223271 ^@ NM_001267550.2(TTN):c.32888-1delG http://identifiers.org/clinvar/223272 ^@ NM_001267550.2(TTN):c.33418+1G>A http://identifiers.org/clinvar/223273 ^@ NM_001267550.2(TTN):c.41447delG (p.Gly13816Alafs) http://identifiers.org/clinvar/223274 ^@ NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) http://identifiers.org/clinvar/223275 ^@ NM_001267550.2(TTN):c.43792delG (p.Val14598Terfs) http://identifiers.org/clinvar/223276 ^@ NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter) http://identifiers.org/clinvar/223277 ^@ NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) http://identifiers.org/clinvar/223278 ^@ NM_001267550.2(TTN):c.47875+1G>A http://identifiers.org/clinvar/223279 ^@ NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter) http://identifiers.org/clinvar/223280 ^@ NM_001267550.2(TTN):c.52035_52036insTT (p.Leu17346Phefs) http://identifiers.org/clinvar/223281 ^@ NM_001267550.2(TTN):c.52223_52227dupAGAAA (p.Asp17410Argfs) http://identifiers.org/clinvar/223282 ^@ NM_001267550.2(TTN):c.53881+1G>T http://identifiers.org/clinvar/223283 ^@ NM_001267550.2(TTN):c.53881+5G>A http://identifiers.org/clinvar/223284 ^@ NM_001267550.2(TTN):c.55303-1G>A http://identifiers.org/clinvar/223285 ^@ NM_001267550.2(TTN):c.55525_55531delGACAGGA (p.Asp18509Serfs) http://identifiers.org/clinvar/223286 ^@ NM_001267550.2(TTN):c.57544+4A>G http://identifiers.org/clinvar/223287 ^@ NM_001267550.2(TTN):c.58732+2T>C http://identifiers.org/clinvar/223288 ^@ NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) http://identifiers.org/clinvar/223289 ^@ NM_001267550.2(TTN):c.69630C>A (p.Tyr23210Ter) http://identifiers.org/clinvar/223290 ^@ NM_001267550.2(TTN):c.74306dupA (p.Asn24769Lysfs) http://identifiers.org/clinvar/223291 ^@ NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) http://identifiers.org/clinvar/223292 ^@ NM_001267550.2(TTN):c.78507delT (p.Gly26170Valfs) http://identifiers.org/clinvar/223293 ^@ NM_001267550.2(TTN):c.81262_81269delCAGATGCT (p.Gln27088Cysfs) http://identifiers.org/clinvar/223294 ^@ NM_001267550.2(TTN):c.82513delA (p.Ile27505Phefs) http://identifiers.org/clinvar/223295 ^@ NM_003319.4(TTN):c.57895C>T (p.Arg19299Ter) http://identifiers.org/clinvar/223296 ^@ NM_001267550.2(TTN):c.86641delC (p.His28881Thrfs) http://identifiers.org/clinvar/223297 ^@ NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter) http://identifiers.org/clinvar/223298 ^@ NM_001267550.2(TTN):c.89750dupG (p.Val29918Serfs) http://identifiers.org/clinvar/223299 ^@ NM_001267550.2(TTN):c.90087_90088delAG (p.Glu30029Aspfs) http://identifiers.org/clinvar/223300 ^@ NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) http://identifiers.org/clinvar/223301 ^@ NM_001267550.2(TTN):c.94852_94858delGCCCGAT (p.Ala31618Tyrfs) http://identifiers.org/clinvar/223302 ^@ NM_001267550.2(TTN):c.95415_95416+2delCAGT http://identifiers.org/clinvar/223303 ^@ NM_001267550.2(TTN):c.98265_98268dupAACA (p.His32757Asnfs) http://identifiers.org/clinvar/223304 ^@ NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) http://identifiers.org/clinvar/223305 ^@ NM_001267550.2(TTN):c.106629delA (p.Ala35544Profs) http://identifiers.org/clinvar/223306 ^@ NM_133379.4(TTN):c.13022C>G (p.Ser4341Ter) http://identifiers.org/clinvar/223307 ^@ NM_001267550.2(TTN):c.44281+1G>A http://identifiers.org/clinvar/223309 ^@ NM_001267550.2(TTN):c.49346-1G>A http://identifiers.org/clinvar/223310 ^@ NM_001267550.2(TTN):c.50247delT (p.Phe16749Leufs) http://identifiers.org/clinvar/223311 ^@ NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter) http://identifiers.org/clinvar/223312 ^@ NM_001267550.2(TTN):c.58172delA (p.Asp19391Alafs) http://identifiers.org/clinvar/223313 ^@ NM_001267550.2(TTN):c.59627-1G>A http://identifiers.org/clinvar/223314 ^@ NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) http://identifiers.org/clinvar/223315 ^@ NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) http://identifiers.org/clinvar/223316 ^@ NM_001267550.2(TTN):c.69412+1G>A http://identifiers.org/clinvar/223317 ^@ NM_001267550.2(TTN):c.69843delA (p.Val23282Terfs) http://identifiers.org/clinvar/223318 ^@ NM_001267550.2(TTN):c.70791delA (p.Gly23598Glufs) http://identifiers.org/clinvar/223319 ^@ NM_001267550.2(TTN):c.76116_76117insA (p.His25373Thrfs) http://identifiers.org/clinvar/223320 ^@ NM_001267550.2(TTN):c.76383_76386delTAAT (p.Asn25462Lysfs) http://identifiers.org/clinvar/223321 ^@ NM_001267550.2(TTN):c.81518delC (p.Pro27173Hisfs) http://identifiers.org/clinvar/223322 ^@ NM_001267550.2(TTN):c.86459_86460delCT (p.Ser28820Trpfs) http://identifiers.org/clinvar/223323 ^@ NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) http://identifiers.org/clinvar/223324 ^@ NM_001267550.2(TTN):c.89900_89903delATTA (p.Asn29967Metfs) http://identifiers.org/clinvar/223325 ^@ NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108Valfs) http://identifiers.org/clinvar/223326 ^@ NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) http://identifiers.org/clinvar/223327 ^@ NM_001267550.2(TTN):c.94562dupC (p.Thr31522Asnfs) http://identifiers.org/clinvar/223328 ^@ NM_001267550.2(TTN):c.96460dupA (p.Thr32154Asnfs) http://identifiers.org/clinvar/223329 ^@ NM_003319.4(TTN):c.71311C>T (p.Arg23771Ter) http://identifiers.org/clinvar/223330 ^@ NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter) http://identifiers.org/clinvar/223331 ^@ NM_001267550.2(TTN):c.101021_101022delGA (p.Arg33674Ilefs) http://identifiers.org/clinvar/223332 ^@ NM_133379.4(TTN):c.14460_14470dupCACACTCCATA (p.Arg4824Thrfs) http://identifiers.org/clinvar/223333 ^@ NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter) http://identifiers.org/clinvar/223334 ^@ NM_001267550.2(TTN):c.30803-2A>G http://identifiers.org/clinvar/223335 ^@ NM_001267550.2(TTN):c.32095+5G>A http://identifiers.org/clinvar/223336 ^@ NM_001267550.2(TTN):c.32554+1G>C http://identifiers.org/clinvar/223337 ^@ NM_001267550.2(TTN):c.45391delA (p.Ile15131Tyrfs) http://identifiers.org/clinvar/223338 ^@ NM_001267550.2(TTN):c.67159delA (p.Ile22387Terfs) http://identifiers.org/clinvar/223341 ^@ NM_001267550.2(TTN):c.2494G>T (p.Ala832Ser) http://identifiers.org/clinvar/223342 ^@ NM_001267550.2(TTN):c.2841G>T (p.Ser947=) http://identifiers.org/clinvar/223343 ^@ NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) http://identifiers.org/clinvar/223344 ^@ NM_001267550.2(TTN):c.9164-2A>T http://identifiers.org/clinvar/223345 ^@ NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter) http://identifiers.org/clinvar/223346 ^@ NM_001267550.2(TTN):c.11113delA (p.Arg3705Aspfs) http://identifiers.org/clinvar/223347 ^@ NM_001267550.2(TTN):c.14093-1G>A http://identifiers.org/clinvar/223348 ^@ NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter) http://identifiers.org/clinvar/223349 ^@ NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe) http://identifiers.org/clinvar/223350 ^@ NM_001267550.2(TTN):c.39895+1G>T http://identifiers.org/clinvar/223351 ^@ NM_001267550.2(TTN):c.75123T>A (p.Tyr25041Ter) http://identifiers.org/clinvar/223352 ^@ NM_001267550.2(TTN):c.85008_85011delTAGT (p.Glu28338Hisfs) http://identifiers.org/clinvar/223353 ^@ NM_001267550.2(TTN):c.91715dupA (p.Asn30572Lysfs) http://identifiers.org/clinvar/223354 ^@ NM_001267550.2(TTN):c.92284_92288dupAAAAG (p.Ser30763Argfs) http://identifiers.org/clinvar/223355 ^@ NM_001267550.2(TTN):c.97192+4A>G http://identifiers.org/clinvar/223356 ^@ NM_001267550.2(TTN):c.102630delA (p.Val34211Terfs) http://identifiers.org/clinvar/223357 ^@ NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter) http://identifiers.org/clinvar/223358 ^@ NM_001267550.2(TTN):c.106374+1delG http://identifiers.org/clinvar/223359 ^@ NM_133379.4(TTN):c.13410dupA (p.Gly4471Argfs) http://identifiers.org/clinvar/223360 ^@ NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) http://identifiers.org/clinvar/223361 ^@ NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile) http://identifiers.org/clinvar/223362 ^@ NM_001267550.2(TTN):c.96892C>T (p.Gln32298Ter) http://identifiers.org/clinvar/223363 ^@ NM_133379.4(TTN):c.16529delT (p.Val5510Glyfs) http://identifiers.org/clinvar/223364 ^@ NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) http://identifiers.org/clinvar/223365 ^@ NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) http://identifiers.org/clinvar/223366 ^@ NM_001267550.2(TTN):c.14056delA (p.Thr4686Glnfs) http://identifiers.org/clinvar/223367 ^@ NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter) http://identifiers.org/clinvar/223368 ^@ NM_001267550.2(TTN):c.42636delA (p.Ala14213Leufs) http://identifiers.org/clinvar/223369 ^@ NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) http://identifiers.org/clinvar/223370 ^@ NM_001267550.2(TTN):c.47142_47143dupTG (p.Glu15715Valfs) http://identifiers.org/clinvar/223371 ^@ NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) http://identifiers.org/clinvar/223372 ^@ NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter) http://identifiers.org/clinvar/223373 ^@ NM_001267550.2(TTN):c.56206delA (p.Thr18736Profs) http://identifiers.org/clinvar/223374 ^@ NM_001267550.2(TTN):c.56834delG (p.Gly18945Valfs) http://identifiers.org/clinvar/223375 ^@ NM_001267550.2(TTN):c.59352delT (p.Glu19785Serfs) http://identifiers.org/clinvar/223376 ^@ NM_001267550.2(TTN):c.59411dupT (p.Arg19805Lysfs) http://identifiers.org/clinvar/223377 ^@ NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) http://identifiers.org/clinvar/223378 ^@ NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter) http://identifiers.org/clinvar/223379 ^@ NM_001267550.2(TTN):c.69491_69492delTG (p.Val23164Glyfs) http://identifiers.org/clinvar/223380 ^@ NM_001267550.2(TTN):c.69877G>T (p.Gly23293Ter) http://identifiers.org/clinvar/223381 ^@ NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) http://identifiers.org/clinvar/223382 ^@ NM_001267550.2(TTN):c.74880_74883dupAACA (p.Pro24962Asnfs) http://identifiers.org/clinvar/223383 ^@ NM_001267550.2(TTN):c.76115dupA (p.Asn25372Lysfs) http://identifiers.org/clinvar/223384 ^@ NM_001267550.2(TTN):c.78095_78098delGAAA (p.Arg26032Thrfs) http://identifiers.org/clinvar/223385 ^@ NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) http://identifiers.org/clinvar/223386 ^@ NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) http://identifiers.org/clinvar/223387 ^@ NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) http://identifiers.org/clinvar/223388 ^@ NM_001267550.2(TTN):c.87887_87890delACTT (p.His29296Profs) http://identifiers.org/clinvar/223389 ^@ NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) http://identifiers.org/clinvar/223390 ^@ NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700Valfs) http://identifiers.org/clinvar/223392 ^@ NM_000038.5(APC):c.-19+968C>T http://identifiers.org/clinvar/223393 ^@ NM_000038.5(APC):c.1408+1262T>A http://identifiers.org/clinvar/223394 ^@ NM_000038.5(APC):c.-19+985A>G http://identifiers.org/clinvar/223395 ^@ NM_001127511.2(APC):c.165+370A>G http://identifiers.org/clinvar/223396 ^@ NM_000038.5(APC):c.645+655A>G http://identifiers.org/clinvar/223397 ^@ NM_001127511.2(APC):c.165+636G>C http://identifiers.org/clinvar/223398 ^@ NM_000038.5(APC):c.-18-112A>G http://identifiers.org/clinvar/223399 ^@ NM_001127511.2(APC):c.165+434T>C http://identifiers.org/clinvar/223400 ^@ NM_000038.5(APC):c.135+1150C>G http://identifiers.org/clinvar/223401 ^@ NM_000038.5(APC):c.-18-931T>C http://identifiers.org/clinvar/223402 ^@ NM_000038.5(APC):c.1959-121A>T http://identifiers.org/clinvar/223403 ^@ NM_000038.5(APC):c.729+183C>T http://identifiers.org/clinvar/223404 ^@ NM_000038.5(APC):c.-18-1815T>G http://identifiers.org/clinvar/223405 ^@ NM_000038.5(APC):c.645+663G>C http://identifiers.org/clinvar/223406 ^@ NM_000038.5(APC):c.1549-208A>G http://identifiers.org/clinvar/223407 ^@ NM_000038.5(APC):c.-19+2392A>G http://identifiers.org/clinvar/223408 ^@ NM_000038.5(APC):c.-18-952T>C http://identifiers.org/clinvar/223409 ^@ NM_000038.5(APC):c.646-1462G>A http://identifiers.org/clinvar/223410 ^@ NM_000038.5(APC):c.1409-320T>G http://identifiers.org/clinvar/223411 ^@ NM_000038.5(APC):c.532-1605T>G http://identifiers.org/clinvar/223412 ^@ NM_000038.5(APC):c.-18-93T>C http://identifiers.org/clinvar/223413 ^@ NM_001127511.2(APC):c.165+16249G>A http://identifiers.org/clinvar/223414 ^@ NM_000038.5(APC):c.645+691A>C http://identifiers.org/clinvar/223415 ^@ NM_000038.5(APC):c.934-219A>G http://identifiers.org/clinvar/223416 ^@ NM_000038.5(APC):c.220+208C>A http://identifiers.org/clinvar/255647 ^@ NM_000259.3(MYO5A):c.3414A>G (p.Ser1138=) http://identifiers.org/clinvar/255646 ^@ NM_000259.3(MYO5A):c.3309+18delG http://identifiers.org/clinvar/255645 ^@ NM_000259.3(MYO5A):c.3207C>T (p.Leu1069=) http://identifiers.org/clinvar/255644 ^@ NM_000259.3(MYO5A):c.2817+3G>A http://identifiers.org/clinvar/255643 ^@ NM_000259.3(MYO5A):c.2814G>A (p.Glu938=) http://identifiers.org/clinvar/255642 ^@ NM_000259.3(MYO5A):c.2730C>T (p.Ile910=) http://identifiers.org/clinvar/255640 ^@ NM_000259.3(MYO5A):c.1880T>C (p.Met627Thr) http://identifiers.org/clinvar/255639 ^@ NM_000259.3(MYO5A):c.1543-13T>C http://identifiers.org/clinvar/255658 ^@ NM_000259.3(MYO5A):c.947-16C>T http://identifiers.org/clinvar/255657 ^@ NM_000259.3(MYO5A):c.696T>C (p.Tyr232=) http://identifiers.org/clinvar/255654 ^@ NM_000259.3(MYO5A):c.456-4A>G http://identifiers.org/clinvar/255641 ^@ NM_000259.3(MYO5A):c.201A>T (p.Ile67=) http://identifiers.org/clinvar/262999 ^@ NM_182758.3(WDR72):c.2455C>T (p.Leu819Phe) http://identifiers.org/clinvar/262998 ^@ NM_182758.3(WDR72):c.1407T>C (p.Tyr469=) http://identifiers.org/clinvar/263003 ^@ NM_182758.3(WDR72):c.917C>T (p.Pro306Leu) http://identifiers.org/clinvar/263002 ^@ NM_182758.3(WDR72):c.339+9A>G http://identifiers.org/clinvar/263001 ^@ NM_182758.3(WDR72):c.298A>G (p.Met100Val) http://identifiers.org/clinvar/263000 ^@ NM_182758.3(WDR72):c.261-8delT http://identifiers.org/clinvar/259442 ^@ NM_004580.4(RAB27A):c.*14C>T http://identifiers.org/clinvar/259445 ^@ NM_004580.4(RAB27A):c.343+33A>G http://identifiers.org/clinvar/259444 ^@ NM_004580.4(RAB27A):c.240-21A>G http://identifiers.org/clinvar/259443 ^@ NM_004580.4(RAB27A):c.154-40G>C http://identifiers.org/clinvar/262314 ^@ NM_130810.3(DNAAF4):c.1259C>G (p.Ser420Cys) http://identifiers.org/clinvar/262315 ^@ NM_130810.3(DNAAF4):c.572A>G (p.Glu191Gly) http://identifiers.org/clinvar/263283 ^@ NM_207036.1(TCF12):c.76-18A>G http://identifiers.org/clinvar/263277 ^@ NM_207036.1(TCF12):c.135A>G (p.Gln45=) http://identifiers.org/clinvar/263280 ^@ NM_207036.1(TCF12):c.297A>G (p.Pro99=) http://identifiers.org/clinvar/263281 ^@ NM_207036.1(TCF12):c.579+11A>G http://identifiers.org/clinvar/263282 ^@ NM_207036.1(TCF12):c.580-12T>C http://identifiers.org/clinvar/263284 ^@ NM_207036.1(TCF12):c.898G>A (p.Gly300Ser) http://identifiers.org/clinvar/263278 ^@ NM_207036.1(TCF12):c.1894T>C (p.Leu632=) http://identifiers.org/clinvar/263279 ^@ NM_207036.1(TCF12):c.1950C>T (p.Val650=) http://identifiers.org/clinvar/257060 ^@ NM_001018020.1(TPM1):c.*31G>A http://identifiers.org/clinvar/257449 ^@ NM_001101362.2(KBTBD13):c.-13C>T http://identifiers.org/clinvar/257459 ^@ NM_001101362.2(KBTBD13):c.89G>A (p.Gly30Asp) http://identifiers.org/clinvar/257452 ^@ NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) http://identifiers.org/clinvar/257453 ^@ NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) http://identifiers.org/clinvar/257454 ^@ NM_001101362.2(KBTBD13):c.214C>T (p.Leu72=) http://identifiers.org/clinvar/257455 ^@ NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) http://identifiers.org/clinvar/257456 ^@ NM_001101362.2(KBTBD13):c.295C>T (p.His99Tyr) http://identifiers.org/clinvar/257457 ^@ NM_001101362.2(KBTBD13):c.876G>A (p.Pro292=) http://identifiers.org/clinvar/257458 ^@ NM_001101362.2(KBTBD13):c.880C>G (p.Pro294Ala) http://identifiers.org/clinvar/257450 ^@ NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) http://identifiers.org/clinvar/257451 ^@ NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) http://identifiers.org/clinvar/259525 ^@ NM_004727.2(SLC24A1):c.109A>T (p.Thr37Ser) http://identifiers.org/clinvar/259527 ^@ NM_004727.2(SLC24A1):c.937T>G (p.Leu313Val) http://identifiers.org/clinvar/259526 ^@ NM_004727.2(SLC24A1):c.1822G>A (p.Val608Ile) http://identifiers.org/clinvar/258797 ^@ NM_002755.3(MAP2K1):c.1023-20C>T http://identifiers.org/clinvar/259888 ^@ NM_005902.3(SMAD3):c.657G>C (p.Leu219Phe) http://identifiers.org/clinvar/259889 ^@ NM_005902.3(SMAD3):c.990C>T (p.Thr330=) http://identifiers.org/clinvar/260366 ^@ NM_014249.3(NR2E3):c.119-28T>C http://identifiers.org/clinvar/260367 ^@ NM_014249.3(NR2E3):c.505C>T (p.Leu169=) http://identifiers.org/clinvar/260368 ^@ NM_014249.3(NR2E3):c.694G>A (p.Val232Ile) http://identifiers.org/clinvar/260369 ^@ NM_014249.3(NR2E3):c.954G>A (p.Thr318=) http://identifiers.org/clinvar/256350 ^@ NM_000520.5(HEXA):c.1331-46G>A http://identifiers.org/clinvar/256349 ^@ NM_000520.5(HEXA):c.1074-43C>G http://identifiers.org/clinvar/256353 ^@ NM_000520.5(HEXA):c.806-48G>T http://identifiers.org/clinvar/256352 ^@ NM_000520.5(HEXA):c.759G>A (p.Val253=) http://identifiers.org/clinvar/256351 ^@ NM_000520.5(HEXA):c.672+30T>G http://identifiers.org/clinvar/262133 ^@ NM_033028.4(BBS4):c.-38C>A http://identifiers.org/clinvar/262138 ^@ NM_033028.4(BBS4):c.12G>A (p.Glu4=) http://identifiers.org/clinvar/262143 ^@ NM_033028.4(BBS4):c.77-6G>A http://identifiers.org/clinvar/262139 ^@ NM_033028.4(BBS4):c.405+17C>T http://identifiers.org/clinvar/262140 ^@ NM_033028.4(BBS4):c.642+14_642+20delTGTACTC http://identifiers.org/clinvar/262141 ^@ NM_033028.4(BBS4):c.712-17C>G http://identifiers.org/clinvar/262142 ^@ NM_033028.4(BBS4):c.748G>A (p.Gly250Arg) http://identifiers.org/clinvar/262144 ^@ NM_033028.4(BBS4):c.865-22G>C http://identifiers.org/clinvar/262135 ^@ NM_033028.4(BBS4):c.1106+3A>G http://identifiers.org/clinvar/262134 ^@ NM_033028.4(BBS4):c.1106+20T>C http://identifiers.org/clinvar/262136 ^@ NM_033028.4(BBS4):c.1236A>T (p.Glu412Asp) http://identifiers.org/clinvar/262137 ^@ NM_033028.4(BBS4):c.1249-35G>C http://identifiers.org/clinvar/259779 ^@ NM_005477.2(HCN4):c.1979-41A>G http://identifiers.org/clinvar/261578 ^@ NM_022369.3(STRA6):c.1581G>A (p.Met527Ile) http://identifiers.org/clinvar/261577 ^@ NM_022369.3(STRA6):c.1167-10C>G http://identifiers.org/clinvar/258656 ^@ NM_002435.2(MPI):c.1053+31G>A http://identifiers.org/clinvar/259210 ^@ NM_003978.4(PSTPIP1):c.36+15T>C http://identifiers.org/clinvar/259208 ^@ NM_003978.4(PSTPIP1):c.147G>A (p.Ala49=) http://identifiers.org/clinvar/259209 ^@ NM_003978.4(PSTPIP1):c.355-17C>T http://identifiers.org/clinvar/259211 ^@ NM_003978.4(PSTPIP1):c.773G>C (p.Gly258Ala) http://identifiers.org/clinvar/259212 ^@ NM_003978.4(PSTPIP1):c.915C>T (p.Cys305=) http://identifiers.org/clinvar/259207 ^@ NM_003978.4(PSTPIP1):c.1098G>A (p.Ala366=) http://identifiers.org/clinvar/259970 ^@ NM_006383.3(CIB2):c.192G>A (p.Glu64=) http://identifiers.org/clinvar/255283 ^@ NM_000137.2(FAH):c.81+38dupG http://identifiers.org/clinvar/255279 ^@ NM_000137.2(FAH):c.193-23T>C http://identifiers.org/clinvar/255280 ^@ NM_000137.2(FAH):c.314+49G>A http://identifiers.org/clinvar/255281 ^@ NM_000137.2(FAH):c.455+29G>A http://identifiers.org/clinvar/255282 ^@ NM_000137.2(FAH):c.553+33A>G http://identifiers.org/clinvar/255284 ^@ NM_000137.2(FAH):c.961-35C>A http://identifiers.org/clinvar/255278 ^@ NM_000137.2(FAH):c.1180+4A>G http://identifiers.org/clinvar/255276 ^@ NM_000137.2(FAH):c.*38A>C http://identifiers.org/clinvar/255277 ^@ NM_000137.2(FAH):c.*40C>T http://identifiers.org/clinvar/257480 ^@ NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) http://identifiers.org/clinvar/257484 ^@ NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) http://identifiers.org/clinvar/257486 ^@ NM_001113378.1(FANCI):c.288+37G>A http://identifiers.org/clinvar/257490 ^@ NM_001113378.1(FANCI):c.545+19C>T http://identifiers.org/clinvar/257491 ^@ NM_001113378.1(FANCI):c.545+30G>A http://identifiers.org/clinvar/257481 ^@ NM_001113378.1(FANCI):c.1698+15C>T http://identifiers.org/clinvar/257482 ^@ NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) http://identifiers.org/clinvar/257483 ^@ NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) http://identifiers.org/clinvar/257485 ^@ NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) http://identifiers.org/clinvar/257487 ^@ NM_001113378.1(FANCI):c.3006+15A>C http://identifiers.org/clinvar/257488 ^@ NM_001113378.1(FANCI):c.3651+19G>A http://identifiers.org/clinvar/257489 ^@ NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) http://identifiers.org/clinvar/258790 ^@ NM_002693.2(POLG):c.2220C>T (p.Asn740=) http://identifiers.org/clinvar/258789 ^@ NM_002693.2(POLG):c.1149G>A (p.Lys383=) http://identifiers.org/clinvar/263153 ^@ NM_198525.2(KIF7):c.3960T>A (p.Pro1320=) http://identifiers.org/clinvar/263152 ^@ NM_198525.2(KIF7):c.3665-18C>T http://identifiers.org/clinvar/263151 ^@ NM_198525.2(KIF7):c.3589C>T (p.Leu1197=) http://identifiers.org/clinvar/263150 ^@ NM_198525.2(KIF7):c.3582G>A (p.Glu1194=) http://identifiers.org/clinvar/263149 ^@ NM_198525.2(KIF7):c.3518-17C>T http://identifiers.org/clinvar/263148 ^@ NM_198525.2(KIF7):c.3201G>A (p.Gln1067=) http://identifiers.org/clinvar/263147 ^@ NM_198525.2(KIF7):c.3192A>T (p.Thr1064=) http://identifiers.org/clinvar/263145 ^@ NM_198525.2(KIF7):c.3112-11_3112-10insCT http://identifiers.org/clinvar/263146 ^@ NM_198525.2(KIF7):c.3112-17C>T http://identifiers.org/clinvar/263143 ^@ NM_198525.2(KIF7):c.2776C>A (p.Arg926=) http://identifiers.org/clinvar/263142 ^@ NM_198525.2(KIF7):c.2592+11C>A http://identifiers.org/clinvar/263141 ^@ NM_198525.2(KIF7):c.2192-13C>T http://identifiers.org/clinvar/263140 ^@ NM_198525.2(KIF7):c.2079C>A (p.Val693=) http://identifiers.org/clinvar/263139 ^@ NM_198525.2(KIF7):c.1885G>A (p.Glu629Lys) http://identifiers.org/clinvar/263138 ^@ NM_198525.2(KIF7):c.1788+13T>C http://identifiers.org/clinvar/263137 ^@ NM_198525.2(KIF7):c.1086G>A (p.Glu362=) http://identifiers.org/clinvar/263155 ^@ NM_198525.2(KIF7):c.660C>A (p.Val220=) http://identifiers.org/clinvar/263154 ^@ NM_198525.2(KIF7):c.636C>T (p.His212=) http://identifiers.org/clinvar/263144 ^@ NM_198525.2(KIF7):c.294A>G (p.Ser98=) http://identifiers.org/clinvar/263156 ^@ NM_198525.2(KIF7):c.96C>T (p.His32=) http://identifiers.org/clinvar/257238 ^@ NM_001039958.1(MESP2):c.-11G>A http://identifiers.org/clinvar/257239 ^@ NM_001039958.1(MESP2):c.412G>A (p.Val138Met) http://identifiers.org/clinvar/257240 ^@ NM_001039958.1(MESP2):c.498C>G (p.Pro166=) http://identifiers.org/clinvar/257241 ^@ NM_001039958.1(MESP2):c.531G>A (p.Ala177=) http://identifiers.org/clinvar/257242 ^@ NM_001039958.1(MESP2):c.547_582del36 (p.Gln194_Gly205del) http://identifiers.org/clinvar/257243 ^@ NM_001039958.1(MESP2):c.558G>A (p.Gln186=) http://identifiers.org/clinvar/257244 ^@ NM_001039958.1(MESP2):c.559_582del24 (p.Gln198_Gly205del) http://identifiers.org/clinvar/257245 ^@ NM_001039958.1(MESP2):c.571_582delGGGCAGGGGCAA (p.Gln202_Gly205del) http://identifiers.org/clinvar/257246 ^@ NM_001039958.1(MESP2):c.595_606delGGACAGGGGCAA (p.Gln202_Gly205del) http://identifiers.org/clinvar/257247 ^@ NM_001039958.1(MESP2):c.671C>T (p.Ser224Phe) http://identifiers.org/clinvar/257248 ^@ NM_001039958.1(MESP2):c.885G>C (p.Thr295=) http://identifiers.org/clinvar/257249 ^@ NM_001039958.1(MESP2):c.908T>C (p.Leu303Pro) http://identifiers.org/clinvar/257250 ^@ NM_001039958.1(MESP2):c.957G>A (p.Ser319=) http://identifiers.org/clinvar/254781 ^@ NM_000057.3(BLM):c.759G>A (p.Gln253=) http://identifiers.org/clinvar/254778 ^@ NM_000057.3(BLM):c.2308-50G>A http://identifiers.org/clinvar/254779 ^@ NM_000057.3(BLM):c.3210+44delT http://identifiers.org/clinvar/254780 ^@ NM_000057.3(BLM):c.3358+32T>G http://identifiers.org/clinvar/261044 ^@ NM_018668.4(VPS33B):c.1671A>G (p.Glu557=) http://identifiers.org/clinvar/261043 ^@ NM_018668.4(VPS33B):c.1658-36G>A http://identifiers.org/clinvar/261042 ^@ NM_018668.4(VPS33B):c.1656A>T (p.Thr552=) http://identifiers.org/clinvar/261041 ^@ NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) http://identifiers.org/clinvar/261039 ^@ NM_018668.4(VPS33B):c.1405+36G>A http://identifiers.org/clinvar/261038 ^@ NM_018668.4(VPS33B):c.1392C>T (p.Thr464=) http://identifiers.org/clinvar/261037 ^@ NM_018668.4(VPS33B):c.1105+9C>T http://identifiers.org/clinvar/261048 ^@ NM_018668.4(VPS33B):c.852+13G>A http://identifiers.org/clinvar/261047 ^@ NM_018668.4(VPS33B):c.648C>T (p.Gly216=) http://identifiers.org/clinvar/261046 ^@ NM_018668.4(VPS33B):c.597C>T (p.Cys199=) http://identifiers.org/clinvar/261045 ^@ NM_018668.4(VPS33B):c.240-13_240-12delTT http://identifiers.org/clinvar/261040 ^@ NM_018668.4(VPS33B):c.151C>A (p.Arg51=) http://identifiers.org/clinvar/257714 ^@ NM_001271.3(CHD2):c.608A>G (p.Lys203Arg) http://identifiers.org/clinvar/257715 ^@ NM_001271.3(CHD2):c.693-20C>T http://identifiers.org/clinvar/257706 ^@ NM_001271.3(CHD2):c.2049A>G (p.Glu683=) http://identifiers.org/clinvar/257707 ^@ NM_001271.3(CHD2):c.2577+7T>C http://identifiers.org/clinvar/257708 ^@ NM_001271.3(CHD2):c.2718A>G (p.Gln906=) http://identifiers.org/clinvar/257709 ^@ NM_001271.3(CHD2):c.3564C>T (p.Tyr1188=) http://identifiers.org/clinvar/257710 ^@ NM_001271.3(CHD2):c.3596-20G>A http://identifiers.org/clinvar/257711 ^@ NM_001271.3(CHD2):c.4527C>T (p.Ile1509=) http://identifiers.org/clinvar/257712 ^@ NM_001271.3(CHD2):c.4721G>C (p.Gly1574Ala) http://identifiers.org/clinvar/257713 ^@ NM_001271.3(CHD2):c.5416A>C (p.Arg1806=) http://identifiers.org/clinvar/258093 ^@ NM_001424.5(EMP2):c.170-14C>T http://identifiers.org/clinvar/262082 ^@ NM_032520.4(GNPTG):c.233+35C>T http://identifiers.org/clinvar/262083 ^@ NM_032520.4(GNPTG):c.411+15G>A http://identifiers.org/clinvar/259683 ^@ NM_005236.2(ERCC4):c.207+11G>A http://identifiers.org/clinvar/259686 ^@ NM_005236.2(ERCC4):c.974-7G>A http://identifiers.org/clinvar/259684 ^@ NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) http://identifiers.org/clinvar/259685 ^@ NM_005236.2(ERCC4):c.2724C>T (p.Val908=) http://identifiers.org/clinvar/259682 ^@ NM_005236.2(ERCC4):c.*11C>T http://identifiers.org/clinvar/257947 ^@ NM_001287.5(CLCN7):c.*19A>G http://identifiers.org/clinvar/257955 ^@ NM_001287.5(CLCN7):c.2073+16C>T http://identifiers.org/clinvar/257954 ^@ NM_001287.5(CLCN7):c.1798-8G>A http://identifiers.org/clinvar/257953 ^@ NM_001287.5(CLCN7):c.1798-10C>T http://identifiers.org/clinvar/257952 ^@ NM_001287.5(CLCN7):c.1797+16G>A http://identifiers.org/clinvar/257951 ^@ NM_001287.5(CLCN7):c.1614G>A (p.Ala538=) http://identifiers.org/clinvar/257950 ^@ NM_001287.5(CLCN7):c.1245T>C (p.Ile415=) http://identifiers.org/clinvar/257949 ^@ NM_001287.5(CLCN7):c.1170A>T (p.Ala390=) http://identifiers.org/clinvar/257948 ^@ NM_001287.5(CLCN7):c.1128G>A (p.Pro376=) http://identifiers.org/clinvar/257958 ^@ NM_001287.5(CLCN7):c.870C>T (p.Ser290=) http://identifiers.org/clinvar/257957 ^@ NM_001287.5(CLCN7):c.660C>T (p.His220=) http://identifiers.org/clinvar/257956 ^@ NM_001287.5(CLCN7):c.485-10T>C http://identifiers.org/clinvar/257254 ^@ NM_001040113.1(MYH11):c.*5C>G http://identifiers.org/clinvar/257262 ^@ NM_001040113.1(MYH11):c.5807+11C>T http://identifiers.org/clinvar/257261 ^@ NM_001040113.1(MYH11):c.5192+9C>T http://identifiers.org/clinvar/257260 ^@ NM_001040113.1(MYH11):c.4812+16G>T http://identifiers.org/clinvar/257259 ^@ NM_001040113.1(MYH11):c.4104C>T (p.Asn1368=) http://identifiers.org/clinvar/257258 ^@ NM_001040113.1(MYH11):c.3918C>T (p.Ala1306=) http://identifiers.org/clinvar/257257 ^@ NM_001040113.1(MYH11):c.3123T>C (p.Ser1041=) http://identifiers.org/clinvar/257256 ^@ NM_001040113.1(MYH11):c.3019-20C>T http://identifiers.org/clinvar/257255 ^@ NM_001040113.1(MYH11):c.3018+14G>A http://identifiers.org/clinvar/257263 ^@ NM_001040113.1(MYH11):c.742C>A (p.Arg248=) http://identifiers.org/clinvar/259046 ^@ NM_003361.3(UMOD):c.264C>T (p.Gly88=) http://identifiers.org/clinvar/256623 ^@ NM_000548.4(TSC2):c.225+12C>A http://identifiers.org/clinvar/256624 ^@ NM_000548.4(TSC2):c.226-13C>T http://identifiers.org/clinvar/256628 ^@ NM_000548.4(TSC2):c.337-26G>C http://identifiers.org/clinvar/256636 ^@ NM_000548.4(TSC2):c.649-35G>T http://identifiers.org/clinvar/256637 ^@ NM_000548.4(TSC2):c.726C>T (p.Thr242=) http://identifiers.org/clinvar/256638 ^@ NM_000548.4(TSC2):c.849-6T>G http://identifiers.org/clinvar/256639 ^@ NM_000548.4(TSC2):c.945G>A (p.Ser315=) http://identifiers.org/clinvar/256618 ^@ NM_000548.4(TSC2):c.1332C>T (p.Asn444=) http://identifiers.org/clinvar/256619 ^@ NM_000548.4(TSC2):c.1716+48C>G http://identifiers.org/clinvar/256620 ^@ NM_000548.4(TSC2):c.1731C>G (p.Thr577=) http://identifiers.org/clinvar/256621 ^@ NM_000548.4(TSC2):c.1791C>G (p.His597Gln) http://identifiers.org/clinvar/256622 ^@ NM_000548.4(TSC2):c.1824C>T (p.Ser608=) http://identifiers.org/clinvar/256625 ^@ NM_000548.4(TSC2):c.2545+9C>G http://identifiers.org/clinvar/256626 ^@ NM_000548.4(TSC2):c.2568C>G (p.Leu856=) http://identifiers.org/clinvar/256627 ^@ NM_000548.4(TSC2):c.2946G>C (p.Val982=) http://identifiers.org/clinvar/256630 ^@ NM_000548.4(TSC2):c.3884-37A>T http://identifiers.org/clinvar/256629 ^@ NM_000548.4(TSC2):c.3884-32C>T http://identifiers.org/clinvar/256631 ^@ NM_000548.4(TSC2):c.4968C>T (p.Asp1656=) http://identifiers.org/clinvar/256632 ^@ NM_000548.4(TSC2):c.5175G>A (p.Val1725=) http://identifiers.org/clinvar/256633 ^@ NM_000548.4(TSC2):c.5199C>T (p.Thr1733=) http://identifiers.org/clinvar/256634 ^@ NM_000548.4(TSC2):c.5259+25C>T http://identifiers.org/clinvar/256635 ^@ NM_000548.4(TSC2):c.5260-40C>T http://identifiers.org/clinvar/256617 ^@ NM_000548.4(TSC2):c.*35G>A http://identifiers.org/clinvar/256884 ^@ NM_001009944.2(PKD1):c.*15G>A http://identifiers.org/clinvar/256922 ^@ NM_001009944.2(PKD1):c.12768C>T (p.Ala4256=) http://identifiers.org/clinvar/256921 ^@ NM_001009944.2(PKD1):c.12630T>C (p.Pro4210=) http://identifiers.org/clinvar/256920 ^@ NM_001009944.2(PKD1):c.12444+15G>C http://identifiers.org/clinvar/256919 ^@ NM_001009944.2(PKD1):c.12436G>A (p.Val4146Ile) http://identifiers.org/clinvar/256918 ^@ NM_001009944.2(PKD1):c.12409C>T (p.Leu4137=) http://identifiers.org/clinvar/256917 ^@ NM_001009944.2(PKD1):c.12276A>G (p.Ala4092=) http://identifiers.org/clinvar/256915 ^@ NM_001009944.2(PKD1):c.12176C>T (p.Ala4059Val) http://identifiers.org/clinvar/256914 ^@ NM_001009944.2(PKD1):c.12139-5C>T http://identifiers.org/clinvar/256913 ^@ NM_001009944.2(PKD1):c.12133A>G (p.Ile4045Val) http://identifiers.org/clinvar/256912 ^@ NM_001009944.2(PKD1):c.11976C>G (p.Ala3992=) http://identifiers.org/clinvar/256911 ^@ NM_001009944.2(PKD1):c.11961C>T (p.Ala3987=) http://identifiers.org/clinvar/256910 ^@ NM_001009944.2(PKD1):c.11934C>T (p.Asp3978=) http://identifiers.org/clinvar/256909 ^@ NM_001009944.2(PKD1):c.11916C>T (p.Arg3972=) http://identifiers.org/clinvar/256908 ^@ NM_001009944.2(PKD1):c.11682C>T (p.Ser3894=) http://identifiers.org/clinvar/256907 ^@ NM_001009944.2(PKD1):c.11577G>T (p.Pro3859=) http://identifiers.org/clinvar/256906 ^@ NM_001009944.2(PKD1):c.11538-4G>T http://identifiers.org/clinvar/256904 ^@ NM_001009944.2(PKD1):c.11538-10C>T http://identifiers.org/clinvar/256905 ^@ NM_001009944.2(PKD1):c.11538-11C>T http://identifiers.org/clinvar/256903 ^@ NM_001009944.2(PKD1):c.11537+3_11537+5dupGGG http://identifiers.org/clinvar/256902 ^@ NM_001009944.2(PKD1):c.11523C>T (p.Asn3841=) http://identifiers.org/clinvar/256901 ^@ NM_001009944.2(PKD1):c.11346C>T (p.Asp3782=) http://identifiers.org/clinvar/256900 ^@ NM_001009944.2(PKD1):c.11337C>G (p.Ser3779Arg) http://identifiers.org/clinvar/256899 ^@ NM_001009944.2(PKD1):c.11316C>G (p.Ala3772=) http://identifiers.org/clinvar/256898 ^@ NM_001009944.2(PKD1):c.11156+13G>A http://identifiers.org/clinvar/256897 ^@ NM_001009944.2(PKD1):c.10822-8delC http://identifiers.org/clinvar/256896 ^@ NM_001009944.2(PKD1):c.10822-14C>T http://identifiers.org/clinvar/256894 ^@ NM_001009944.2(PKD1):c.10768C>T (p.Leu3590=) http://identifiers.org/clinvar/256893 ^@ NM_001009944.2(PKD1):c.10535C>T (p.Ala3512Val) http://identifiers.org/clinvar/256892 ^@ NM_001009944.2(PKD1):c.10531C>G (p.Leu3511Val) http://identifiers.org/clinvar/256891 ^@ NM_001009944.2(PKD1):c.10529C>T (p.Thr3510Met) http://identifiers.org/clinvar/256890 ^@ NM_001009944.2(PKD1):c.10406-4C>T http://identifiers.org/clinvar/256889 ^@ NM_001009944.2(PKD1):c.10368C>T (p.Ala3456=) http://identifiers.org/clinvar/256888 ^@ NM_001009944.2(PKD1):c.10304G>A (p.Arg3435Gln) http://identifiers.org/clinvar/256886 ^@ NM_001009944.2(PKD1):c.10225G>C (p.Val3409Leu) http://identifiers.org/clinvar/256885 ^@ NM_001009944.2(PKD1):c.10050+10G>C http://identifiers.org/clinvar/257047 ^@ NM_001009944.2(PKD1):c.9957C>T (p.Ser3319=) http://identifiers.org/clinvar/257046 ^@ NM_001009944.2(PKD1):c.9923+9C>T http://identifiers.org/clinvar/257045 ^@ NM_001009944.2(PKD1):c.9690G>A (p.Val3230=) http://identifiers.org/clinvar/257044 ^@ NM_001009944.2(PKD1):c.9669G>A (p.Thr3223=) http://identifiers.org/clinvar/257043 ^@ NM_001009944.2(PKD1):c.9569-13T>C http://identifiers.org/clinvar/257042 ^@ NM_001009944.2(PKD1):c.9330T>C (p.Pro3110=) http://identifiers.org/clinvar/257041 ^@ NM_001009944.2(PKD1):c.9270C>T (p.Val3090=) http://identifiers.org/clinvar/257040 ^@ NM_001009944.2(PKD1):c.9196T>C (p.Phe3066Leu) http://identifiers.org/clinvar/257038 ^@ NM_001009944.2(PKD1):c.9195_9196delGTinsCC (p.Phe3066Leu) http://identifiers.org/clinvar/257039 ^@ NM_001009944.2(PKD1):c.9195G>C (p.Val3065=) http://identifiers.org/clinvar/257037 ^@ NM_001009944.2(PKD1):c.9123C>T (p.Ala3041=) http://identifiers.org/clinvar/257036 ^@ NM_001009944.2(PKD1):c.8964G>A (p.Ala2988=) http://identifiers.org/clinvar/257034 ^@ NM_001009944.2(PKD1):c.8949-17A>G http://identifiers.org/clinvar/257035 ^@ NM_001009944.2(PKD1):c.8949-20G>A http://identifiers.org/clinvar/257033 ^@ NM_001009944.2(PKD1):c.8948+17A>G http://identifiers.org/clinvar/257032 ^@ NM_001009944.2(PKD1):c.8948+11C>T http://identifiers.org/clinvar/257031 ^@ NM_001009944.2(PKD1):c.8913T>C (p.Ala2971=) http://identifiers.org/clinvar/257030 ^@ NM_001009944.2(PKD1):c.8898G>C (p.Glu2966Asp) http://identifiers.org/clinvar/257029 ^@ NM_001009944.2(PKD1):c.8751G>A (p.Ala2917=) http://identifiers.org/clinvar/257028 ^@ NM_001009944.2(PKD1):c.8713G>A (p.Val2905Ile) http://identifiers.org/clinvar/257027 ^@ NM_001009944.2(PKD1):c.8712C>T (p.Ser2904=) http://identifiers.org/clinvar/257026 ^@ NM_001009944.2(PKD1):c.8679C>G (p.Ser2893=) http://identifiers.org/clinvar/257025 ^@ NM_001009944.2(PKD1):c.8644T>A (p.Trp2882Arg) http://identifiers.org/clinvar/257024 ^@ NM_001009944.2(PKD1):c.8619C>T (p.Thr2873=) http://identifiers.org/clinvar/257022 ^@ NM_001009944.2(PKD1):c.8442G>C (p.Gly2814=) http://identifiers.org/clinvar/257021 ^@ NM_001009944.2(PKD1):c.8440G>A (p.Gly2814Arg) http://identifiers.org/clinvar/257020 ^@ NM_001009944.2(PKD1):c.8439C>T (p.Ser2813=) http://identifiers.org/clinvar/257018 ^@ NM_001009944.2(PKD1):c.8364G>A (p.Ser2788=) http://identifiers.org/clinvar/257017 ^@ NM_001009944.2(PKD1):c.8298C>T (p.Ser2766=) http://identifiers.org/clinvar/257016 ^@ NM_001009944.2(PKD1):c.8235T>G (p.Ser2745=) http://identifiers.org/clinvar/257015 ^@ NM_001009944.2(PKD1):c.8187G>A (p.Ser2729=) http://identifiers.org/clinvar/257012 ^@ NM_001009944.2(PKD1):c.8161+12C>T http://identifiers.org/clinvar/257014 ^@ NM_001009944.2(PKD1):c.8161+8G>A http://identifiers.org/clinvar/257013 ^@ NM_001009944.2(PKD1):c.8161+5C>T http://identifiers.org/clinvar/257011 ^@ NM_001009944.2(PKD1):c.8123C>T (p.Thr2708Met) http://identifiers.org/clinvar/257010 ^@ NM_001009944.2(PKD1):c.8109C>T (p.Thr2703=) http://identifiers.org/clinvar/257009 ^@ NM_001009944.2(PKD1):c.8020C>T (p.Pro2674Ser) http://identifiers.org/clinvar/257008 ^@ NM_001009944.2(PKD1):c.7913A>G (p.His2638Arg) http://identifiers.org/clinvar/257007 ^@ NM_001009944.2(PKD1):c.7863+13T>C http://identifiers.org/clinvar/257006 ^@ NM_001009944.2(PKD1):c.7863+11C>T http://identifiers.org/clinvar/257005 ^@ NM_001009944.2(PKD1):c.7767C>T (p.His2589=) http://identifiers.org/clinvar/257004 ^@ NM_001009944.2(PKD1):c.7708T>C (p.Leu2570=) http://identifiers.org/clinvar/257003 ^@ NM_001009944.2(PKD1):c.7683C>T (p.Ala2561=) http://identifiers.org/clinvar/257002 ^@ NM_001009944.2(PKD1):c.7642G>C (p.Glu2548Gln) http://identifiers.org/clinvar/257001 ^@ NM_001009944.2(PKD1):c.7441C>T (p.Leu2481=) http://identifiers.org/clinvar/257000 ^@ NM_001009944.2(PKD1):c.7429C>T (p.Arg2477Cys) http://identifiers.org/clinvar/256999 ^@ NM_001009944.2(PKD1):c.7275C>T (p.Gly2425=) http://identifiers.org/clinvar/256998 ^@ NM_001009944.2(PKD1):c.7210-10C>A http://identifiers.org/clinvar/256997 ^@ NM_001009944.2(PKD1):c.7165T>C (p.Leu2389=) http://identifiers.org/clinvar/256996 ^@ NM_001009944.2(PKD1):c.7077G>C (p.Arg2359=) http://identifiers.org/clinvar/256995 ^@ NM_001009944.2(PKD1):c.7066-5G>A http://identifiers.org/clinvar/256994 ^@ NM_001009944.2(PKD1):c.6927C>T (p.Gly2309=) http://identifiers.org/clinvar/256993 ^@ NM_001009944.2(PKD1):c.6915+19C>T http://identifiers.org/clinvar/256992 ^@ NM_001009944.2(PKD1):c.6621C>G (p.Pro2207=) http://identifiers.org/clinvar/256991 ^@ NM_001009944.2(PKD1):c.6606G>A (p.Ala2202=) http://identifiers.org/clinvar/256990 ^@ NM_001009944.2(PKD1):c.6598C>T (p.Arg2200Cys) http://identifiers.org/clinvar/256989 ^@ NM_001009944.2(PKD1):c.6496C>T (p.Arg2166Cys) http://identifiers.org/clinvar/256988 ^@ NM_001009944.2(PKD1):c.6363C>T (p.Arg2121=) http://identifiers.org/clinvar/256987 ^@ NM_001009944.2(PKD1):c.6219C>T (p.Thr2073=) http://identifiers.org/clinvar/256986 ^@ NM_001009944.2(PKD1):c.6078C>T (p.Val2026=) http://identifiers.org/clinvar/256984 ^@ NM_001009944.2(PKD1):c.5851C>A (p.Arg1951=) http://identifiers.org/clinvar/256983 ^@ NM_001009944.2(PKD1):c.5847C>T (p.Ser1949=) http://identifiers.org/clinvar/256982 ^@ NM_001009944.2(PKD1):c.5827G>A (p.Val1943Ile) http://identifiers.org/clinvar/256981 ^@ NM_001009944.2(PKD1):c.5763G>A (p.Leu1921=) http://identifiers.org/clinvar/256980 ^@ NM_001009944.2(PKD1):c.5682C>T (p.Ala1894=) http://identifiers.org/clinvar/256979 ^@ NM_001009944.2(PKD1):c.5611G>A (p.Ala1871Thr) http://identifiers.org/clinvar/256978 ^@ NM_001009944.2(PKD1):c.5454G>A (p.Ala1818=) http://identifiers.org/clinvar/256977 ^@ NM_001009944.2(PKD1):c.5373C>T (p.Asn1791=) http://identifiers.org/clinvar/256976 ^@ NM_001009944.2(PKD1):c.5307T>C (p.His1769=) http://identifiers.org/clinvar/256975 ^@ NM_001009944.2(PKD1):c.5220C>T (p.Ala1740=) http://identifiers.org/clinvar/256974 ^@ NM_001009944.2(PKD1):c.5172C>T (p.Ala1724=) http://identifiers.org/clinvar/256973 ^@ NM_001009944.2(PKD1):c.5064C>T (p.Leu1688=) http://identifiers.org/clinvar/256972 ^@ NM_001009944.2(PKD1):c.5051C>T (p.Ser1684Leu) http://identifiers.org/clinvar/256971 ^@ NM_001009944.2(PKD1):c.4917C>T (p.Gly1639=) http://identifiers.org/clinvar/256970 ^@ NM_001009944.2(PKD1):c.4845C>T (p.Asn1615=) http://identifiers.org/clinvar/256969 ^@ NM_001009944.2(PKD1):c.4674G>A (p.Thr1558=) http://identifiers.org/clinvar/256968 ^@ NM_001009944.2(PKD1):c.4665A>C (p.Ala1555=) http://identifiers.org/clinvar/256967 ^@ NM_001009944.2(PKD1):c.4546G>A (p.Ala1516Thr) http://identifiers.org/clinvar/256966 ^@ NM_001009944.2(PKD1):c.4495C>T (p.Leu1499=) http://identifiers.org/clinvar/256965 ^@ NM_001009944.2(PKD1):c.4302C>T (p.Ile1434=) http://identifiers.org/clinvar/256964 ^@ NM_001009944.2(PKD1):c.4264G>A (p.Ala1422Thr) http://identifiers.org/clinvar/256963 ^@ NM_001009944.2(PKD1):c.4263C>T (p.Ala1421=) http://identifiers.org/clinvar/256962 ^@ NM_001009944.2(PKD1):c.4195T>C (p.Trp1399Arg) http://identifiers.org/clinvar/256961 ^@ NM_001009944.2(PKD1):c.4071G>T (p.Leu1357=) http://identifiers.org/clinvar/256960 ^@ NM_001009944.2(PKD1):c.4018C>T (p.Arg1340Trp) http://identifiers.org/clinvar/256959 ^@ NM_001009944.2(PKD1):c.3975C>T (p.Leu1325=) http://identifiers.org/clinvar/256958 ^@ NM_001009944.2(PKD1):c.3948C>T (p.Tyr1316=) http://identifiers.org/clinvar/256957 ^@ NM_001009944.2(PKD1):c.3930C>T (p.Asp1310=) http://identifiers.org/clinvar/256955 ^@ NM_001009944.2(PKD1):c.3525G>A (p.Pro1175=) http://identifiers.org/clinvar/256954 ^@ NM_001009944.2(PKD1):c.3513C>G (p.Thr1171=) http://identifiers.org/clinvar/256953 ^@ NM_001009944.2(PKD1):c.3502C>T (p.Pro1168Ser) http://identifiers.org/clinvar/256952 ^@ NM_001009944.2(PKD1):c.3489C>T (p.Phe1163=) http://identifiers.org/clinvar/256951 ^@ NM_001009944.2(PKD1):c.3384C>G (p.Ser1128=) http://identifiers.org/clinvar/256950 ^@ NM_001009944.2(PKD1):c.3375C>T (p.Ser1125=) http://identifiers.org/clinvar/256949 ^@ NM_001009944.2(PKD1):c.3372C>T (p.Ala1124=) http://identifiers.org/clinvar/256948 ^@ NM_001009944.2(PKD1):c.3296-15G>A http://identifiers.org/clinvar/256947 ^@ NM_001009944.2(PKD1):c.3275T>C (p.Met1092Thr) http://identifiers.org/clinvar/256946 ^@ NM_001009944.2(PKD1):c.3228G>A (p.Pro1076=) http://identifiers.org/clinvar/256945 ^@ NM_001009944.2(PKD1):c.3183G>A (p.Glu1061=) http://identifiers.org/clinvar/256944 ^@ NM_001009944.2(PKD1):c.3111A>G (p.Leu1037=) http://identifiers.org/clinvar/256943 ^@ NM_001009944.2(PKD1):c.3087C>T (p.Ala1029=) http://identifiers.org/clinvar/256942 ^@ NM_001009944.2(PKD1):c.3063T>C (p.Gly1021=) http://identifiers.org/clinvar/256941 ^@ NM_001009944.2(PKD1):c.3030C>T (p.Asn1010=) http://identifiers.org/clinvar/256940 ^@ NM_001009944.2(PKD1):c.3006G>C (p.Val1002=) http://identifiers.org/clinvar/256939 ^@ NM_001009944.2(PKD1):c.2986-15C>T http://identifiers.org/clinvar/256938 ^@ NM_001009944.2(PKD1):c.2854-5C>T http://identifiers.org/clinvar/256937 ^@ NM_001009944.2(PKD1):c.2730C>T (p.Asp910=) http://identifiers.org/clinvar/256936 ^@ NM_001009944.2(PKD1):c.2700G>A (p.Pro900=) http://identifiers.org/clinvar/256935 ^@ NM_001009944.2(PKD1):c.2694A>C (p.Ala898=) http://identifiers.org/clinvar/256934 ^@ NM_001009944.2(PKD1):c.2655C>T (p.Cys885=) http://identifiers.org/clinvar/256933 ^@ NM_001009944.2(PKD1):c.2319A>G (p.Ala773=) http://identifiers.org/clinvar/256932 ^@ NM_001009944.2(PKD1):c.2235C>G (p.Ala745=) http://identifiers.org/clinvar/256931 ^@ NM_001009944.2(PKD1):c.2214C>G (p.Pro738=) http://identifiers.org/clinvar/256930 ^@ NM_001009944.2(PKD1):c.2039A>T (p.Tyr680Phe) http://identifiers.org/clinvar/256929 ^@ NM_001009944.2(PKD1):c.1850-4A>G http://identifiers.org/clinvar/256927 ^@ NM_001009944.2(PKD1):c.1714C>T (p.Pro572Ser) http://identifiers.org/clinvar/256926 ^@ NM_001009944.2(PKD1):c.1710C>T (p.His570=) http://identifiers.org/clinvar/256925 ^@ NM_001009944.2(PKD1):c.1539C>T (p.Pro513=) http://identifiers.org/clinvar/256924 ^@ NM_001009944.2(PKD1):c.1385+5C>T http://identifiers.org/clinvar/256923 ^@ NM_001009944.2(PKD1):c.1323G>A (p.Gly441=) http://identifiers.org/clinvar/256916 ^@ NM_001009944.2(PKD1):c.1221C>T (p.Pro407=) http://identifiers.org/clinvar/256887 ^@ NM_001009944.2(PKD1):c.1023C>T (p.Ala341=) http://identifiers.org/clinvar/257023 ^@ NM_001009944.2(PKD1):c.858T>C (p.Ser286=) http://identifiers.org/clinvar/257019 ^@ NM_001009944.2(PKD1):c.837G>A (p.Gly279=) http://identifiers.org/clinvar/256985 ^@ NM_001009944.2(PKD1):c.588C>T (p.Ser196=) http://identifiers.org/clinvar/256956 ^@ NM_001009944.2(PKD1):c.360-18C>T http://identifiers.org/clinvar/256928 ^@ NM_001009944.2(PKD1):c.182C>T (p.Pro61Leu) http://identifiers.org/clinvar/256895 ^@ NM_001009944.2(PKD1):c.107C>A (p.Pro36His) http://identifiers.org/clinvar/262526 ^@ NM_144672.3(OTOA):c.1320+19C>T http://identifiers.org/clinvar/255865 ^@ NM_000336.2(SCNN1B):c.1299C>T (p.Ser433=) http://identifiers.org/clinvar/255866 ^@ NM_000336.2(SCNN1B):c.1543-17C>T http://identifiers.org/clinvar/255867 ^@ NM_000336.2(SCNN1B):c.1782G>A (p.Thr594=) http://identifiers.org/clinvar/259448 ^@ NM_004608.3(TBX6):c.1227G>A (p.Pro409=) http://identifiers.org/clinvar/259450 ^@ NM_004608.3(TBX6):c.840-20_840-18delTCA http://identifiers.org/clinvar/259449 ^@ NM_004608.3(TBX6):c.744C>T (p.Ser248=) http://identifiers.org/clinvar/259447 ^@ NM_004608.3(TBX6):c.118+6C>T http://identifiers.org/clinvar/260018 ^@ NM_006662.2(SRCAP):c.493-20C>T http://identifiers.org/clinvar/260016 ^@ NM_006662.2(SRCAP):c.3168C>T (p.Ala1056=) http://identifiers.org/clinvar/260017 ^@ NM_006662.2(SRCAP):c.3302C>A (p.Thr1101Lys) http://identifiers.org/clinvar/260019 ^@ NM_006662.2(SRCAP):c.5343C>T (p.Ala1781=) http://identifiers.org/clinvar/260020 ^@ NM_006662.2(SRCAP):c.5705A>G (p.Glu1902Gly) http://identifiers.org/clinvar/255784 ^@ NM_000294.2(PHKG2):c.36C>T (p.Pro12=) http://identifiers.org/clinvar/255786 ^@ NM_000294.2(PHKG2):c.96-10G>T http://identifiers.org/clinvar/255781 ^@ NM_000294.2(PHKG2):c.174A>T (p.Thr58=) http://identifiers.org/clinvar/255782 ^@ NM_000294.2(PHKG2):c.271+38C>T http://identifiers.org/clinvar/255783 ^@ NM_000294.2(PHKG2):c.288C>T (p.Ser96=) http://identifiers.org/clinvar/255785 ^@ NM_000294.2(PHKG2):c.585G>A (p.Ala195=) http://identifiers.org/clinvar/255780 ^@ NM_000294.2(PHKG2):c.1137T>C (p.Pro379=) http://identifiers.org/clinvar/261871 ^@ NM_025193.3(HSD3B7):c.167-7C>A http://identifiers.org/clinvar/261872 ^@ NM_025193.3(HSD3B7):c.167-7C>T http://identifiers.org/clinvar/261873 ^@ NM_025193.3(HSD3B7):c.748A>G (p.Thr250Ala) http://identifiers.org/clinvar/261874 ^@ NM_025193.3(HSD3B7):c.804C>T (p.Tyr268=) http://identifiers.org/clinvar/261875 ^@ NM_025193.3(HSD3B7):c.856G>A (p.Ala286Thr) http://identifiers.org/clinvar/261876 ^@ NM_025193.3(HSD3B7):c.975C>T (p.Ala325=) http://identifiers.org/clinvar/261869 ^@ NM_025193.3(HSD3B7):c.1040T>C (p.Leu347Pro) http://identifiers.org/clinvar/261870 ^@ NM_025193.3(HSD3B7):c.1068T>C (p.Arg356=) http://identifiers.org/clinvar/259887 ^@ NM_005881.3(BCKDK):c.561C>A (p.Arg187=) http://identifiers.org/clinvar/259594 ^@ NM_004960.3(FUS):c.147C>A (p.Gly49=) http://identifiers.org/clinvar/259595 ^@ NM_004960.3(FUS):c.153C>T (p.Gly51=) http://identifiers.org/clinvar/259596 ^@ NM_004960.3(FUS):c.190+9T>C http://identifiers.org/clinvar/259597 ^@ NM_004960.3(FUS):c.191-41T>C http://identifiers.org/clinvar/259598 ^@ NM_004960.3(FUS):c.291C>T (p.Tyr97=) http://identifiers.org/clinvar/259599 ^@ NM_004960.3(FUS):c.524-21T>C http://identifiers.org/clinvar/259592 ^@ NM_004960.3(FUS):c.1394-16G>T http://identifiers.org/clinvar/259593 ^@ NM_004960.3(FUS):c.1464C>T (p.Gly488=) http://identifiers.org/clinvar/255615 ^@ NM_000243.2(MEFV):c.1428A>G (p.Gln476=) http://identifiers.org/clinvar/262029 ^@ NM_032444.2(SLX4):c.*8A>G http://identifiers.org/clinvar/262054 ^@ NM_032444.2(SLX4):c.4581G>A (p.Pro1527=) http://identifiers.org/clinvar/262053 ^@ NM_032444.2(SLX4):c.4500T>C (p.Asn1500=) http://identifiers.org/clinvar/262052 ^@ NM_032444.2(SLX4):c.4359C>T (p.Ser1453=) http://identifiers.org/clinvar/262051 ^@ NM_032444.2(SLX4):c.3868C>A (p.His1290Asn) http://identifiers.org/clinvar/262050 ^@ NM_032444.2(SLX4):c.3812C>T (p.Ser1271Phe) http://identifiers.org/clinvar/262049 ^@ NM_032444.2(SLX4):c.3783G>A (p.Pro1261=) http://identifiers.org/clinvar/262048 ^@ NM_032444.2(SLX4):c.3662C>T (p.Ala1221Val) http://identifiers.org/clinvar/262047 ^@ NM_032444.2(SLX4):c.3365C>T (p.Pro1122Leu) http://identifiers.org/clinvar/262046 ^@ NM_032444.2(SLX4):c.3162G>A (p.Ser1054=) http://identifiers.org/clinvar/262045 ^@ NM_032444.2(SLX4):c.2855C>T (p.Ala952Val) http://identifiers.org/clinvar/262044 ^@ NM_032444.2(SLX4):c.2854G>A (p.Ala952Thr) http://identifiers.org/clinvar/262043 ^@ NM_032444.2(SLX4):c.2844G>A (p.Ala948=) http://identifiers.org/clinvar/262042 ^@ NM_032444.2(SLX4):c.2160+50C>T http://identifiers.org/clinvar/262041 ^@ NM_032444.2(SLX4):c.2013+23G>A http://identifiers.org/clinvar/262040 ^@ NM_032444.2(SLX4):c.2012T>C (p.Leu671Ser) http://identifiers.org/clinvar/262039 ^@ NM_032444.2(SLX4):c.1925-30G>A http://identifiers.org/clinvar/262038 ^@ NM_032444.2(SLX4):c.1803G>A (p.Ser601=) http://identifiers.org/clinvar/262037 ^@ NM_032444.2(SLX4):c.1755C>T (p.Pro585=) http://identifiers.org/clinvar/262036 ^@ NM_032444.2(SLX4):c.1563T>C (p.Pro521=) http://identifiers.org/clinvar/262035 ^@ NM_032444.2(SLX4):c.1371T>G (p.Asn457Lys) http://identifiers.org/clinvar/262034 ^@ NM_032444.2(SLX4):c.1366+11T>C http://identifiers.org/clinvar/262033 ^@ NM_032444.2(SLX4):c.1163+10C>T http://identifiers.org/clinvar/262032 ^@ NM_032444.2(SLX4):c.1156A>G (p.Met386Val) http://identifiers.org/clinvar/262031 ^@ NM_032444.2(SLX4):c.1153C>A (p.Pro385Thr) http://identifiers.org/clinvar/262030 ^@ NM_032444.2(SLX4):c.1152A>G (p.Pro384=) http://identifiers.org/clinvar/262058 ^@ NM_032444.2(SLX4):c.753G>A (p.Ala251=) http://identifiers.org/clinvar/262057 ^@ NM_032444.2(SLX4):c.678C>T (p.His226=) http://identifiers.org/clinvar/262056 ^@ NM_032444.2(SLX4):c.610C>T (p.Arg204Cys) http://identifiers.org/clinvar/262055 ^@ NM_032444.2(SLX4):c.555C>T (p.Asp185=) http://identifiers.org/clinvar/260710 ^@ NM_016292.2(TRAP1):c.919C>G (p.Arg307Gly) http://identifiers.org/clinvar/260709 ^@ NM_016292.2(TRAP1):c.705-14T>C http://identifiers.org/clinvar/259360 ^@ NM_004380.2(CREBBP):c.4133+19T>C http://identifiers.org/clinvar/259359 ^@ NM_004380.2(CREBBP):c.1216+20C>A http://identifiers.org/clinvar/262084 ^@ NM_032575.2(GLIS2):c.-11G>A http://identifiers.org/clinvar/262085 ^@ NM_032575.2(GLIS2):c.223G>T (p.Ala75Ser) http://identifiers.org/clinvar/262086 ^@ NM_032575.2(GLIS2):c.775+20C>T http://identifiers.org/clinvar/260387 ^@ NM_014321.3(ORC6):c.-47G>A http://identifiers.org/clinvar/260386 ^@ NM_014321.3(ORC6):c.-20T>C http://identifiers.org/clinvar/257177 ^@ NM_001031835.2(PHKB):c.284+11G>T http://identifiers.org/clinvar/257178 ^@ NM_001031835.2(PHKB):c.297T>C (p.Asp99=) http://identifiers.org/clinvar/257179 ^@ NM_001031835.2(PHKB):c.754-6G>C http://identifiers.org/clinvar/257170 ^@ NM_001031835.2(PHKB):c.1106-14A>G http://identifiers.org/clinvar/257171 ^@ NM_001031835.2(PHKB):c.1342+13G>T http://identifiers.org/clinvar/257172 ^@ NM_001031835.2(PHKB):c.1782G>A (p.Ala594=) http://identifiers.org/clinvar/257173 ^@ NM_001031835.2(PHKB):c.1860-52_1860-49delAATT http://identifiers.org/clinvar/257174 ^@ NM_001031835.2(PHKB):c.2223C>G (p.Leu741=) http://identifiers.org/clinvar/257175 ^@ NM_001031835.2(PHKB):c.2288A>G (p.Tyr763Cys) http://identifiers.org/clinvar/257176 ^@ NM_001031835.2(PHKB):c.2438_2440delAAG (p.Glu813del) http://identifiers.org/clinvar/261744 ^@ NM_024589.2(ROGDI):c.646-5C>T http://identifiers.org/clinvar/261743 ^@ NM_024589.2(ROGDI):c.433-15C>T http://identifiers.org/clinvar/261742 ^@ NM_024589.2(ROGDI):c.393C>G (p.Asp131Glu) http://identifiers.org/clinvar/260537 ^@ NM_015069.4(ZNF423):c.3826-9C>T http://identifiers.org/clinvar/260536 ^@ NM_015069.4(ZNF423):c.3493-18T>C http://identifiers.org/clinvar/260535 ^@ NM_015069.4(ZNF423):c.3337G>A (p.Ala1113Thr) http://identifiers.org/clinvar/260534 ^@ NM_015069.4(ZNF423):c.3327G>A (p.Pro1109=) http://identifiers.org/clinvar/260533 ^@ NM_015069.4(ZNF423):c.3202C>A (p.Leu1068Met) http://identifiers.org/clinvar/260532 ^@ NM_015069.4(ZNF423):c.3140C>T (p.Ala1047Val) http://identifiers.org/clinvar/260530 ^@ NM_015069.4(ZNF423):c.2679G>A (p.Ala893=) http://identifiers.org/clinvar/260529 ^@ NM_015069.4(ZNF423):c.2673T>C (p.Cys891=) http://identifiers.org/clinvar/260528 ^@ NM_015069.4(ZNF423):c.2538C>A (p.Pro846=) http://identifiers.org/clinvar/260527 ^@ NM_015069.4(ZNF423):c.2511C>T (p.Thr837=) http://identifiers.org/clinvar/260526 ^@ NM_015069.4(ZNF423):c.2304C>T (p.His768=) http://identifiers.org/clinvar/260525 ^@ NM_015069.4(ZNF423):c.2109G>A (p.Ser703=) http://identifiers.org/clinvar/260524 ^@ NM_015069.4(ZNF423):c.1886A>G (p.Asn629Ser) http://identifiers.org/clinvar/260523 ^@ NM_015069.4(ZNF423):c.1845G>A (p.Pro615=) http://identifiers.org/clinvar/260522 ^@ NM_015069.4(ZNF423):c.1545T>C (p.Asn515=) http://identifiers.org/clinvar/260521 ^@ NM_015069.4(ZNF423):c.1206G>A (p.Gln402=) http://identifiers.org/clinvar/260520 ^@ NM_015069.4(ZNF423):c.1170G>A (p.Pro390=) http://identifiers.org/clinvar/260519 ^@ NM_015069.4(ZNF423):c.1107C>T (p.Ser369=) http://identifiers.org/clinvar/260538 ^@ NM_015069.4(ZNF423):c.543T>C (p.Arg181=) http://identifiers.org/clinvar/260531 ^@ NM_015069.4(ZNF423):c.288C>T (p.Asp96=) http://identifiers.org/clinvar/260539 ^@ NM_015069.4(ZNF423):c.76+13G>A http://identifiers.org/clinvar/260705 ^@ NM_016256.3(NAGPA):c.1485C>T (p.Asn495=) http://identifiers.org/clinvar/260704 ^@ NM_016256.3(NAGPA):c.1394C>T (p.Thr465Ile) http://identifiers.org/clinvar/260703 ^@ NM_016256.3(NAGPA):c.1175-22_1175-16delTCCTCCC http://identifiers.org/clinvar/260708 ^@ NM_016256.3(NAGPA):c.920+40A>G http://identifiers.org/clinvar/260707 ^@ NM_016256.3(NAGPA):c.683-29G>A http://identifiers.org/clinvar/260706 ^@ NM_016256.3(NAGPA):c.333A>G (p.Gly111=) http://identifiers.org/clinvar/258871 ^@ NM_002968.2(SALL1):c.3823G>A (p.Val1275Ile) http://identifiers.org/clinvar/258869 ^@ NM_002968.2(SALL1):c.3535-32_3535-31delCT http://identifiers.org/clinvar/258868 ^@ NM_002968.2(SALL1):c.3456C>T (p.His1152=) http://identifiers.org/clinvar/258867 ^@ NM_002968.2(SALL1):c.2967C>T (p.Leu989=) http://identifiers.org/clinvar/258866 ^@ NM_002968.2(SALL1):c.2574C>T (p.Leu858=) http://identifiers.org/clinvar/258865 ^@ NM_002968.2(SALL1):c.2544A>G (p.Gln848=) http://identifiers.org/clinvar/258864 ^@ NM_002968.2(SALL1):c.2343G>C (p.Leu781=) http://identifiers.org/clinvar/258863 ^@ NM_002968.2(SALL1):c.2310C>T (p.Ile770=) http://identifiers.org/clinvar/258862 ^@ NM_002968.2(SALL1):c.2178G>A (p.Arg726=) http://identifiers.org/clinvar/258861 ^@ NM_002968.2(SALL1):c.1904C>T (p.Pro635Leu) http://identifiers.org/clinvar/258877 ^@ NM_002968.2(SALL1):c.487_489dupGGC (p.Gly163_Ser164insGly) http://identifiers.org/clinvar/258876 ^@ NM_002968.2(SALL1):c.478G>A (p.Gly160Ser) http://identifiers.org/clinvar/258874 ^@ NM_002968.2(SALL1):c.475_477dupAGC (p.Ser159_Gly160insSer) http://identifiers.org/clinvar/258875 ^@ NM_002968.2(SALL1):c.475A>G (p.Ser159Gly) http://identifiers.org/clinvar/258873 ^@ NM_002968.2(SALL1):c.472A>G (p.Ser158Gly) http://identifiers.org/clinvar/258872 ^@ NM_002968.2(SALL1):c.390G>A (p.Pro130=) http://identifiers.org/clinvar/258870 ^@ NM_002968.2(SALL1):c.379G>C (p.Val127Leu) http://identifiers.org/clinvar/258860 ^@ NM_002968.2(SALL1):c.129C>T (p.His43=) http://identifiers.org/clinvar/258878 ^@ NM_002968.2(SALL1):c.76+36_76+37delAC http://identifiers.org/clinvar/260609 ^@ NM_015272.4(RPGRIP1L):c.3836-13C>G http://identifiers.org/clinvar/260608 ^@ NM_015272.4(RPGRIP1L):c.3624C>T (p.Tyr1208=) http://identifiers.org/clinvar/260607 ^@ NM_015272.4(RPGRIP1L):c.3451A>C (p.Ile1151Leu) http://identifiers.org/clinvar/260606 ^@ NM_015272.4(RPGRIP1L):c.3450G>T (p.Arg1150=) http://identifiers.org/clinvar/260605 ^@ NM_015272.4(RPGRIP1L):c.3432+37C>T http://identifiers.org/clinvar/260604 ^@ NM_015272.4(RPGRIP1L):c.3312C>T (p.Pro1104=) http://identifiers.org/clinvar/260603 ^@ NM_015272.4(RPGRIP1L):c.3249T>C (p.Ser1083=) http://identifiers.org/clinvar/260602 ^@ NM_015272.4(RPGRIP1L):c.2959-31A>G http://identifiers.org/clinvar/260600 ^@ NM_015272.4(RPGRIP1L):c.2874+31A>T http://identifiers.org/clinvar/260601 ^@ NM_015272.4(RPGRIP1L):c.2874+8T>C http://identifiers.org/clinvar/260599 ^@ NM_015272.4(RPGRIP1L):c.2658G>A (p.Ser886=) http://identifiers.org/clinvar/260598 ^@ NM_015272.4(RPGRIP1L):c.1401+29C>T http://identifiers.org/clinvar/260597 ^@ NM_015272.4(RPGRIP1L):c.1072T>C (p.Leu358=) http://identifiers.org/clinvar/260612 ^@ NM_015272.4(RPGRIP1L):c.883-32_883-30delAAT http://identifiers.org/clinvar/260611 ^@ NM_015272.4(RPGRIP1L):c.639C>T (p.Asn213=) http://identifiers.org/clinvar/260610 ^@ NM_015272.4(RPGRIP1L):c.632+16delT http://identifiers.org/clinvar/261976 ^@ NM_031885.3(BBS2):c.*13C>T http://identifiers.org/clinvar/261980 ^@ NM_031885.3(BBS2):c.1659+3A>G http://identifiers.org/clinvar/261983 ^@ NM_031885.3(BBS2):c.718-34G>A http://identifiers.org/clinvar/261982 ^@ NM_031885.3(BBS2):c.612+42T>C http://identifiers.org/clinvar/261981 ^@ NM_031885.3(BBS2):c.367A>G (p.Ile123Val) http://identifiers.org/clinvar/261979 ^@ NM_031885.3(BBS2):c.117+27C>T http://identifiers.org/clinvar/261977 ^@ NM_031885.3(BBS2):c.-40T>C http://identifiers.org/clinvar/261978 ^@ NM_031885.3(BBS2):c.-42T>G http://identifiers.org/clinvar/255886 ^@ NM_000339.2(SLC12A3):c.249G>T (p.Arg83=) http://identifiers.org/clinvar/255892 ^@ NM_000339.2(SLC12A3):c.366A>G (p.Ala122=) http://identifiers.org/clinvar/255876 ^@ NM_000339.2(SLC12A3):c.1023C>T (p.Phe341=) http://identifiers.org/clinvar/255877 ^@ NM_000339.2(SLC12A3):c.1210G>A (p.Val404Ile) http://identifiers.org/clinvar/255878 ^@ NM_000339.2(SLC12A3):c.1392C>A (p.Ala464=) http://identifiers.org/clinvar/255879 ^@ NM_000339.2(SLC12A3):c.1395C>T (p.Thr465=) http://identifiers.org/clinvar/255880 ^@ NM_000339.2(SLC12A3):c.1670-8T>C http://identifiers.org/clinvar/255881 ^@ NM_000339.2(SLC12A3):c.1825+9C>A http://identifiers.org/clinvar/255882 ^@ NM_000339.2(SLC12A3):c.1865A>G (p.Asn622Ser) http://identifiers.org/clinvar/255883 ^@ NM_000339.2(SLC12A3):c.1884G>A (p.Ser628=) http://identifiers.org/clinvar/255884 ^@ NM_000339.2(SLC12A3):c.2142C>T (p.Ala714=) http://identifiers.org/clinvar/255885 ^@ NM_000339.2(SLC12A3):c.2179-8C>T http://identifiers.org/clinvar/255887 ^@ NM_000339.2(SLC12A3):c.2625C>T (p.Gly875=) http://identifiers.org/clinvar/255888 ^@ NM_000339.2(SLC12A3):c.2738G>A (p.Arg913Gln) http://identifiers.org/clinvar/255889 ^@ NM_000339.2(SLC12A3):c.2748-13T>C http://identifiers.org/clinvar/255890 ^@ NM_000339.2(SLC12A3):c.2884-17G>A http://identifiers.org/clinvar/255891 ^@ NM_000339.2(SLC12A3):c.2951+13C>T http://identifiers.org/clinvar/259867 ^@ NM_005682.6(ADGRG1):c.132C>T (p.Ser44=) http://identifiers.org/clinvar/259868 ^@ NM_005682.6(ADGRG1):c.249C>T (p.Asp83=) http://identifiers.org/clinvar/259869 ^@ NM_005682.6(ADGRG1):c.733G>A (p.Gly245Ser) http://identifiers.org/clinvar/259864 ^@ NM_005682.6(ADGRG1):c.*19C>A http://identifiers.org/clinvar/259865 ^@ NM_005682.6(ADGRG1):c.*38T>G http://identifiers.org/clinvar/259866 ^@ NM_005682.6(ADGRG1):c.*48C>T http://identifiers.org/clinvar/257960 ^@ NM_001297.4(CNGB1):c.1958-14A>C http://identifiers.org/clinvar/257959 ^@ NM_001297.4(CNGB1):c.159+14C>T http://identifiers.org/clinvar/258163 ^@ NM_001538.3(HSF4):c.123+9C>T http://identifiers.org/clinvar/259292 ^@ NM_004360.4(CDH1):c.2164+17dupA http://identifiers.org/clinvar/259293 ^@ NM_004360.4(CDH1):c.2439+22C>T http://identifiers.org/clinvar/255935 ^@ NM_000353.2(TAT):c.309G>A (p.Ser103=) http://identifiers.org/clinvar/257967 ^@ NM_001361.4(DHODH):c.294C>T (p.Asp98=) http://identifiers.org/clinvar/257968 ^@ NM_001361.4(DHODH):c.573G>A (p.Ala191=) http://identifiers.org/clinvar/257159 ^@ NM_001031737.2(CCDC78):c.*2G>A http://identifiers.org/clinvar/257161 ^@ NM_001031737.2(CCDC78):c.1134-9C>T http://identifiers.org/clinvar/257160 ^@ NM_001031737.2(CCDC78):c.1133+7G>A http://identifiers.org/clinvar/257169 ^@ NM_001031737.2(CCDC78):c.766-11G>A http://identifiers.org/clinvar/257168 ^@ NM_001031737.2(CCDC78):c.493-16C>T http://identifiers.org/clinvar/257167 ^@ NM_001031737.2(CCDC78):c.490G>A (p.Gly164Ser) http://identifiers.org/clinvar/257166 ^@ NM_001031737.2(CCDC78):c.304C>T (p.Leu102=) http://identifiers.org/clinvar/257165 ^@ NM_001031737.2(CCDC78):c.180+19C>G http://identifiers.org/clinvar/257164 ^@ NM_001031737.2(CCDC78):c.180+12G>T http://identifiers.org/clinvar/257162 ^@ NM_001031737.2(CCDC78):c.180+11_180+12delinsTT http://identifiers.org/clinvar/257163 ^@ NM_001031737.2(CCDC78):c.180+11G>T http://identifiers.org/clinvar/257328 ^@ NM_001077416.2(TMEM231):c.*8A>G http://identifiers.org/clinvar/257332 ^@ NM_001077416.2(TMEM231):c.742-20A>T http://identifiers.org/clinvar/257331 ^@ NM_001077416.2(TMEM231):c.741+17T>A http://identifiers.org/clinvar/257329 ^@ NM_001077416.2(TMEM231):c.271C>G (p.Arg91Gly) http://identifiers.org/clinvar/257330 ^@ NM_001077416.2(TMEM231):c.57G>C (p.Arg19=) http://identifiers.org/clinvar/260735 ^@ NM_016373.3(WWOX):c.-5C>T http://identifiers.org/clinvar/260737 ^@ NM_016373.3(WWOX):c.108-12G>T http://identifiers.org/clinvar/260738 ^@ NM_016373.3(WWOX):c.409+16A>C http://identifiers.org/clinvar/260739 ^@ NM_016373.3(WWOX):c.516+6T>C http://identifiers.org/clinvar/260740 ^@ NM_016373.3(WWOX):c.535G>A (p.Ala179Thr) http://identifiers.org/clinvar/260741 ^@ NM_016373.3(WWOX):c.547G>A (p.Asp183Asn) http://identifiers.org/clinvar/260742 ^@ NM_016373.3(WWOX):c.606-17G>A http://identifiers.org/clinvar/260743 ^@ NM_016373.3(WWOX):c.613C>A (p.His205Asn) http://identifiers.org/clinvar/260744 ^@ NM_016373.3(WWOX):c.646C>G (p.Leu216Val) http://identifiers.org/clinvar/260745 ^@ NM_016373.3(WWOX):c.844C>G (p.Pro282Ala) http://identifiers.org/clinvar/260746 ^@ NM_016373.3(WWOX):c.941G>A (p.Arg314His) http://identifiers.org/clinvar/260736 ^@ NM_016373.3(WWOX):c.1057-14T>C http://identifiers.org/clinvar/259754 ^@ NM_005360.4(MAF):c.882G>A (p.Arg294=) http://identifiers.org/clinvar/259753 ^@ NM_005360.4(MAF):c.702A>C (p.Gly234=) http://identifiers.org/clinvar/259752 ^@ NM_005360.4(MAF):c.-9_-7delGGC http://identifiers.org/clinvar/259751 ^@ NM_005360.4(MAF):c.-15_-7delGGCGGCGGC http://identifiers.org/clinvar/261481 ^@ NM_022041.3(GAN):c.156C>T (p.Ser52=) http://identifiers.org/clinvar/261482 ^@ NM_022041.3(GAN):c.167+12G>C http://identifiers.org/clinvar/261483 ^@ NM_022041.3(GAN):c.168-48C>G http://identifiers.org/clinvar/261484 ^@ NM_022041.3(GAN):c.283-14T>C http://identifiers.org/clinvar/261478 ^@ NM_022041.3(GAN):c.1086+9C>G http://identifiers.org/clinvar/261479 ^@ NM_022041.3(GAN):c.1239C>T (p.Ile413=) http://identifiers.org/clinvar/261480 ^@ NM_022041.3(GAN):c.1287C>G (p.Gly429=) http://identifiers.org/clinvar/257644 ^@ NM_001220488.1(CDH13):c.163C>T (p.Pro55Ser) http://identifiers.org/clinvar/257646 ^@ NM_001220488.1(CDH13):c.186+20T>G http://identifiers.org/clinvar/257648 ^@ NM_001220488.1(CDH13):c.257A>G (p.Asn86Ser) http://identifiers.org/clinvar/257649 ^@ NM_001220488.1(CDH13):c.348G>A (p.Ser116=) http://identifiers.org/clinvar/257650 ^@ NM_001220488.1(CDH13):c.923-4G>A http://identifiers.org/clinvar/257641 ^@ NM_001220488.1(CDH13):c.1243-6T>C http://identifiers.org/clinvar/257642 ^@ NM_001220488.1(CDH13):c.1267G>A (p.Ala423Thr) http://identifiers.org/clinvar/257643 ^@ NM_001220488.1(CDH13):c.1500C>T (p.Asp500=) http://identifiers.org/clinvar/257645 ^@ NM_001220488.1(CDH13):c.1822+8C>G http://identifiers.org/clinvar/257647 ^@ NM_001220488.1(CDH13):c.2217A>G (p.Ala739=) http://identifiers.org/clinvar/262934 ^@ NM_178452.5(DNAAF1):c.-19C>T http://identifiers.org/clinvar/262951 ^@ NM_178452.5(DNAAF1):c.303G>C (p.Lys101Asn) http://identifiers.org/clinvar/262952 ^@ NM_178452.5(DNAAF1):c.352+17G>C http://identifiers.org/clinvar/262953 ^@ NM_178452.5(DNAAF1):c.352+30G>A http://identifiers.org/clinvar/262954 ^@ NM_178452.5(DNAAF1):c.432C>T (p.Ile144=) http://identifiers.org/clinvar/262955 ^@ NM_178452.5(DNAAF1):c.507G>C (p.Leu169=) http://identifiers.org/clinvar/262956 ^@ NM_178452.5(DNAAF1):c.574+27C>G http://identifiers.org/clinvar/262957 ^@ NM_178452.5(DNAAF1):c.685C>T (p.His229Tyr) http://identifiers.org/clinvar/262958 ^@ NM_178452.5(DNAAF1):c.736G>A (p.Asp246Asn) http://identifiers.org/clinvar/262935 ^@ NM_178452.5(DNAAF1):c.1030+14C>T http://identifiers.org/clinvar/262936 ^@ NM_178452.5(DNAAF1):c.1030+15G>A http://identifiers.org/clinvar/262937 ^@ NM_178452.5(DNAAF1):c.1197G>A (p.Pro399=) http://identifiers.org/clinvar/262938 ^@ NM_178452.5(DNAAF1):c.1227T>G (p.Gly409=) http://identifiers.org/clinvar/262939 ^@ NM_178452.5(DNAAF1):c.1299C>T (p.Asp433=) http://identifiers.org/clinvar/262940 ^@ NM_178452.5(DNAAF1):c.1317G>A (p.Glu439=) http://identifiers.org/clinvar/262941 ^@ NM_178452.5(DNAAF1):c.1496C>T (p.Pro499Leu) http://identifiers.org/clinvar/262942 ^@ NM_178452.5(DNAAF1):c.1529-11_1529-9delTTG http://identifiers.org/clinvar/262943 ^@ NM_178452.5(DNAAF1):c.1616T>C (p.Leu539Pro) http://identifiers.org/clinvar/262944 ^@ NM_178452.5(DNAAF1):c.1699-41T>C http://identifiers.org/clinvar/262945 ^@ NM_178452.5(DNAAF1):c.1718T>C (p.Ile573Thr) http://identifiers.org/clinvar/262946 ^@ NM_178452.5(DNAAF1):c.1750G>A (p.Asp584Asn) http://identifiers.org/clinvar/262947 ^@ NM_178452.5(DNAAF1):c.1820T>C (p.Phe607Ser) http://identifiers.org/clinvar/262948 ^@ NM_178452.5(DNAAF1):c.1989C>G (p.Pro663=) http://identifiers.org/clinvar/262949 ^@ NM_178452.5(DNAAF1):c.2065+9G>C http://identifiers.org/clinvar/262950 ^@ NM_178452.5(DNAAF1):c.2107G>A (p.Gly703Arg) http://identifiers.org/clinvar/262932 ^@ NM_178452.5(DNAAF1):c.*18T>C http://identifiers.org/clinvar/262933 ^@ NM_178452.5(DNAAF1):c.*36C>T http://identifiers.org/clinvar/259691 ^@ NM_005251.2(FOXC2):c.108C>T (p.Ser36=) http://identifiers.org/clinvar/259694 ^@ NM_005251.2(FOXC2):c.351G>A (p.Gln117=) http://identifiers.org/clinvar/259695 ^@ NM_005251.2(FOXC2):c.411C>T (p.Asp137=) http://identifiers.org/clinvar/259696 ^@ NM_005251.2(FOXC2):c.435C>T (p.Tyr145=) http://identifiers.org/clinvar/259692 ^@ NM_005251.2(FOXC2):c.1308C>T (p.Pro436=) http://identifiers.org/clinvar/259693 ^@ NM_005251.2(FOXC2):c.1482C>T (p.Tyr494=) http://identifiers.org/clinvar/255805 ^@ NM_000303.2(PMM2):c.347+40G>A http://identifiers.org/clinvar/255806 ^@ NM_000303.2(PMM2):c.384C>T (p.Asn128=) http://identifiers.org/clinvar/255807 ^@ NM_000303.2(PMM2):c.447+22T>A http://identifiers.org/clinvar/255127 ^@ NM_000101.3(CYBA):c.381T>C (p.Arg127=) http://identifiers.org/clinvar/255126 ^@ NM_000101.3(CYBA):c.237G>C (p.Leu79=) http://identifiers.org/clinvar/261939 ^@ NM_030928.3(CDT1):c.933+13C>T http://identifiers.org/clinvar/256330 ^@ NM_000512.4(GALNS):c.*36G>A http://identifiers.org/clinvar/256332 ^@ NM_000512.4(GALNS):c.1483-32G>C http://identifiers.org/clinvar/256331 ^@ NM_000512.4(GALNS):c.1003-42C>T http://identifiers.org/clinvar/256339 ^@ NM_000512.4(GALNS):c.898+42G>C http://identifiers.org/clinvar/256338 ^@ NM_000512.4(GALNS):c.898+25C>G http://identifiers.org/clinvar/256337 ^@ NM_000512.4(GALNS):c.858G>A (p.Thr286=) http://identifiers.org/clinvar/256336 ^@ NM_000512.4(GALNS):c.758+22C>T http://identifiers.org/clinvar/256335 ^@ NM_000512.4(GALNS):c.723C>T (p.Ala241=) http://identifiers.org/clinvar/256334 ^@ NM_000512.4(GALNS):c.633+22T>C http://identifiers.org/clinvar/256333 ^@ NM_000512.4(GALNS):c.318C>T (p.Asn106=) http://identifiers.org/clinvar/258910 ^@ NM_003119.3(SPG7):c.618+12T>C http://identifiers.org/clinvar/258911 ^@ NM_003119.3(SPG7):c.987+5A>G http://identifiers.org/clinvar/258906 ^@ NM_003119.3(SPG7):c.1422C>T (p.His474=) http://identifiers.org/clinvar/258907 ^@ NM_003119.3(SPG7):c.1449+19G>A http://identifiers.org/clinvar/258908 ^@ NM_003119.3(SPG7):c.1450-16C>T http://identifiers.org/clinvar/258909 ^@ NM_003119.3(SPG7):c.1764G>A (p.Thr588=) http://identifiers.org/clinvar/258905 ^@ NM_003119.3(SPG7):c.*7G>A http://identifiers.org/clinvar/255268 ^@ NM_000135.2(FANCA):c.4332T>G (p.Pro1444=) http://identifiers.org/clinvar/255266 ^@ NM_000135.2(FANCA):c.4260+29T>C http://identifiers.org/clinvar/255265 ^@ NM_000135.2(FANCA):c.4167+46C>T http://identifiers.org/clinvar/255264 ^@ NM_000135.2(FANCA):c.3935-16C>T http://identifiers.org/clinvar/255263 ^@ NM_000135.2(FANCA):c.3807G>C (p.Leu1269=) http://identifiers.org/clinvar/255262 ^@ NM_000135.2(FANCA):c.3765+37G>A http://identifiers.org/clinvar/255261 ^@ NM_000135.2(FANCA):c.3654A>G (p.Pro1218=) http://identifiers.org/clinvar/255260 ^@ NM_000135.2(FANCA):c.3591G>A (p.Leu1197=) http://identifiers.org/clinvar/255259 ^@ NM_000135.2(FANCA):c.3408+45G>A http://identifiers.org/clinvar/255258 ^@ NM_000135.2(FANCA):c.3408+42G>A http://identifiers.org/clinvar/255257 ^@ NM_000135.2(FANCA):c.3408+33T>C http://identifiers.org/clinvar/255256 ^@ NM_000135.2(FANCA):c.3348+29C>T http://identifiers.org/clinvar/255255 ^@ NM_000135.2(FANCA):c.3348+18A>G http://identifiers.org/clinvar/255254 ^@ NM_000135.2(FANCA):c.3240-42G>A http://identifiers.org/clinvar/255253 ^@ NM_000135.2(FANCA):c.3067-4T>C http://identifiers.org/clinvar/255252 ^@ NM_000135.2(FANCA):c.3067-23G>A http://identifiers.org/clinvar/255251 ^@ NM_000135.2(FANCA):c.2901C>T (p.Ser967=) http://identifiers.org/clinvar/255250 ^@ NM_000135.2(FANCA):c.2779-7T>C http://identifiers.org/clinvar/255247 ^@ NM_000135.2(FANCA):c.2602-19G>C http://identifiers.org/clinvar/255248 ^@ NM_000135.2(FANCA):c.2602-36G>T http://identifiers.org/clinvar/255249 ^@ NM_000135.2(FANCA):c.2602-46T>A http://identifiers.org/clinvar/255246 ^@ NM_000135.2(FANCA):c.2391G>A (p.Ala797=) http://identifiers.org/clinvar/255245 ^@ NM_000135.2(FANCA):c.2151+8T>C http://identifiers.org/clinvar/255244 ^@ NM_000135.2(FANCA):c.2015-5C>T http://identifiers.org/clinvar/255243 ^@ NM_000135.2(FANCA):c.1941G>A (p.Glu647=) http://identifiers.org/clinvar/255242 ^@ NM_000135.2(FANCA):c.1826+30_1826+31insGT http://identifiers.org/clinvar/255241 ^@ NM_000135.2(FANCA):c.1826+15T>C http://identifiers.org/clinvar/255239 ^@ NM_000135.2(FANCA):c.1777-29T>C http://identifiers.org/clinvar/255240 ^@ NM_000135.2(FANCA):c.1777-41_1777-38delTTTC http://identifiers.org/clinvar/255238 ^@ NM_000135.2(FANCA):c.1627-32T>C http://identifiers.org/clinvar/255237 ^@ NM_000135.2(FANCA):c.1626+29C>T http://identifiers.org/clinvar/255236 ^@ NM_000135.2(FANCA):c.1626+16C>T http://identifiers.org/clinvar/255235 ^@ NM_000135.2(FANCA):c.1626+15G>C http://identifiers.org/clinvar/255234 ^@ NM_000135.2(FANCA):c.1471-12A>G http://identifiers.org/clinvar/255233 ^@ NM_000135.2(FANCA):c.1290G>A (p.Ala430=) http://identifiers.org/clinvar/255232 ^@ NM_000135.2(FANCA):c.1226-20A>G http://identifiers.org/clinvar/255231 ^@ NM_000135.2(FANCA):c.1143G>T (p.Thr381=) http://identifiers.org/clinvar/255229 ^@ NM_000135.2(FANCA):c.1084-29A>G http://identifiers.org/clinvar/255230 ^@ NM_000135.2(FANCA):c.1084-49G>C http://identifiers.org/clinvar/255271 ^@ NM_000135.2(FANCA):c.918G>A (p.Thr306=) http://identifiers.org/clinvar/255270 ^@ NM_000135.2(FANCA):c.894-8A>G http://identifiers.org/clinvar/255269 ^@ NM_000135.2(FANCA):c.710-12A>G http://identifiers.org/clinvar/255267 ^@ NM_000135.2(FANCA):c.427-25T>A http://identifiers.org/clinvar/255228 ^@ NM_000135.2(FANCA):c.-18G>A http://identifiers.org/clinvar/258651 ^@ NM_002386.3(MC1R):c.466G>C (p.Val156Leu) http://identifiers.org/clinvar/258652 ^@ NM_002386.3(MC1R):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/258653 ^@ NM_002386.3(MC1R):c.795C>G (p.Val265=) http://identifiers.org/clinvar/258654 ^@ NM_002386.3(MC1R):c.900C>T (p.Phe300=) http://identifiers.org/clinvar/258655 ^@ NM_002386.3(MC1R):c.942A>G (p.Thr314=) http://identifiers.org/clinvar/258650 ^@ NM_002386.3(MC1R):c.*12G>A http://identifiers.org/clinvar/258723 ^@ NM_002472.2(MYH8):c.5484G>A (p.Glu1828=) http://identifiers.org/clinvar/258722 ^@ NM_002472.2(MYH8):c.5464G>A (p.Val1822Ile) http://identifiers.org/clinvar/258721 ^@ NM_002472.2(MYH8):c.5463+20T>C http://identifiers.org/clinvar/258720 ^@ NM_002472.2(MYH8):c.4379A>G (p.Lys1460Arg) http://identifiers.org/clinvar/258719 ^@ NM_002472.2(MYH8):c.3108+20C>A http://identifiers.org/clinvar/258718 ^@ NM_002472.2(MYH8):c.2652A>G (p.Leu884=) http://identifiers.org/clinvar/258717 ^@ NM_002472.2(MYH8):c.2274A>G (p.Gln758=) http://identifiers.org/clinvar/258716 ^@ NM_002472.2(MYH8):c.225G>C (p.Arg75Ser) http://identifiers.org/clinvar/260827 ^@ NM_017534.5(MYH2):c.5472+33G>T http://identifiers.org/clinvar/260826 ^@ NM_017534.5(MYH2):c.5034C>T (p.Ala1678=) http://identifiers.org/clinvar/260825 ^@ NM_017534.5(MYH2):c.4774C>A (p.Leu1592Met) http://identifiers.org/clinvar/260823 ^@ NM_017534.5(MYH2):c.3354+24C>T http://identifiers.org/clinvar/260822 ^@ NM_017534.5(MYH2):c.3263+15A>G http://identifiers.org/clinvar/260820 ^@ NM_017534.5(MYH2):c.3117+32C>T http://identifiers.org/clinvar/260819 ^@ NM_017534.5(MYH2):c.3048G>A (p.Leu1016=) http://identifiers.org/clinvar/260818 ^@ NM_017534.5(MYH2):c.2697+25A>G http://identifiers.org/clinvar/260817 ^@ NM_017534.5(MYH2):c.2062+22G>C http://identifiers.org/clinvar/260816 ^@ NM_017534.5(MYH2):c.1975-9G>A http://identifiers.org/clinvar/260815 ^@ NM_017534.5(MYH2):c.1975-47A>G http://identifiers.org/clinvar/260814 ^@ NM_017534.5(MYH2):c.1898-3C>T http://identifiers.org/clinvar/260813 ^@ NM_017534.5(MYH2):c.1416+40G>C http://identifiers.org/clinvar/260829 ^@ NM_017534.5(MYH2):c.904+10G>A http://identifiers.org/clinvar/260828 ^@ NM_017534.5(MYH2):c.742-30A>C http://identifiers.org/clinvar/260824 ^@ NM_017534.5(MYH2):c.399T>A (p.Pro133=) http://identifiers.org/clinvar/260821 ^@ NM_017534.5(MYH2):c.324A>G (p.Glu108=) http://identifiers.org/clinvar/258702 ^@ NM_002470.3(MYH3):c.5796+32delC http://identifiers.org/clinvar/258701 ^@ NM_002470.3(MYH3):c.5796+30C>T http://identifiers.org/clinvar/258700 ^@ NM_002470.3(MYH3):c.5796+29C>G http://identifiers.org/clinvar/258699 ^@ NM_002470.3(MYH3):c.5658+49G>A http://identifiers.org/clinvar/258697 ^@ NM_002470.3(MYH3):c.5457+29T>C http://identifiers.org/clinvar/258698 ^@ NM_002470.3(MYH3):c.5457+9dupA http://identifiers.org/clinvar/258694 ^@ NM_002470.3(MYH3):c.5160+30G>T http://identifiers.org/clinvar/258693 ^@ NM_002470.3(MYH3):c.5109G>A (p.Ala1703=) http://identifiers.org/clinvar/258691 ^@ NM_002470.3(MYH3):c.4957-16G>C http://identifiers.org/clinvar/258690 ^@ NM_002470.3(MYH3):c.4956+32C>T http://identifiers.org/clinvar/258687 ^@ NM_002470.3(MYH3):c.4647+27G>A http://identifiers.org/clinvar/258688 ^@ NM_002470.3(MYH3):c.4647+6T>G http://identifiers.org/clinvar/258686 ^@ NM_002470.3(MYH3):c.4523-42C>T http://identifiers.org/clinvar/258685 ^@ NM_002470.3(MYH3):c.4488T>G (p.Leu1496=) http://identifiers.org/clinvar/258684 ^@ NM_002470.3(MYH3):c.4356+11C>T http://identifiers.org/clinvar/258680 ^@ NM_002470.3(MYH3):c.3409C>T (p.Arg1137Cys) http://identifiers.org/clinvar/258679 ^@ NM_002470.3(MYH3):c.3078C>T (p.Ser1026=) http://identifiers.org/clinvar/258678 ^@ NM_002470.3(MYH3):c.3072C>G (p.Thr1024=) http://identifiers.org/clinvar/258677 ^@ NM_002470.3(MYH3):c.2926-8C>T http://identifiers.org/clinvar/258676 ^@ NM_002470.3(MYH3):c.2926-12A>G http://identifiers.org/clinvar/258675 ^@ NM_002470.3(MYH3):c.2883C>A (p.Thr961=) http://identifiers.org/clinvar/258674 ^@ NM_002470.3(MYH3):c.2683-4T>C http://identifiers.org/clinvar/258673 ^@ NM_002470.3(MYH3):c.2166-15A>G http://identifiers.org/clinvar/258671 ^@ NM_002470.3(MYH3):c.1581+13A>C http://identifiers.org/clinvar/258670 ^@ NM_002470.3(MYH3):c.1575C>T (p.Ile525=) http://identifiers.org/clinvar/258669 ^@ NM_002470.3(MYH3):c.1446C>T (p.Thr482=) http://identifiers.org/clinvar/258668 ^@ NM_002470.3(MYH3):c.1141+32G>A http://identifiers.org/clinvar/258667 ^@ NM_002470.3(MYH3):c.1003-22C>T http://identifiers.org/clinvar/258705 ^@ NM_002470.3(MYH3):c.899-37C>T http://identifiers.org/clinvar/258704 ^@ NM_002470.3(MYH3):c.774G>A (p.Lys258=) http://identifiers.org/clinvar/258703 ^@ NM_002470.3(MYH3):c.690C>G (p.Ala230=) http://identifiers.org/clinvar/258696 ^@ NM_002470.3(MYH3):c.543C>T (p.Ser181=) http://identifiers.org/clinvar/258695 ^@ NM_002470.3(MYH3):c.534-44T>C http://identifiers.org/clinvar/258692 ^@ NM_002470.3(MYH3):c.505+7T>C http://identifiers.org/clinvar/258689 ^@ NM_002470.3(MYH3):c.483C>T (p.Asn161=) http://identifiers.org/clinvar/258683 ^@ NM_002470.3(MYH3):c.349-7C>T http://identifiers.org/clinvar/258681 ^@ NM_002470.3(MYH3):c.349-36A>G http://identifiers.org/clinvar/258682 ^@ NM_002470.3(MYH3):c.349-43C>T http://identifiers.org/clinvar/258672 ^@ NM_002470.3(MYH3):c.208C>T (p.Leu70=) http://identifiers.org/clinvar/260034 ^@ NM_006761.4(YWHAE):c.282G>A (p.Lys94=) http://identifiers.org/clinvar/260033 ^@ NM_006761.4(YWHAE):c.265-23A>T http://identifiers.org/clinvar/260259 ^@ NM_012452.2(TNFRSF13B):c.831T>C (p.Ser277=) http://identifiers.org/clinvar/260258 ^@ NM_012452.2(TNFRSF13B):c.291T>G (p.Pro97=) http://identifiers.org/clinvar/262547 ^@ NM_144997.5(FLCN):c.1176+14T>A http://identifiers.org/clinvar/262549 ^@ NM_144997.5(FLCN):c.872-13A>G http://identifiers.org/clinvar/262548 ^@ NM_144997.5(FLCN):c.779+10G>A http://identifiers.org/clinvar/256836 ^@ NM_000934.3(SERPINF2):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/256837 ^@ NM_000934.3(SERPINF2):c.97C>T (p.Arg33Trp) http://identifiers.org/clinvar/256835 ^@ NM_000934.3(SERPINF2):c.186C>T (p.Ala62=) http://identifiers.org/clinvar/256833 ^@ NM_000934.3(SERPINF2):c.1107C>T (p.Ser369=) http://identifiers.org/clinvar/256834 ^@ NM_000934.3(SERPINF2):c.1301G>A (p.Arg434Lys) http://identifiers.org/clinvar/261934 ^@ NM_030665.3(RAI1):c.1500G>A (p.Pro500=) http://identifiers.org/clinvar/261935 ^@ NM_030665.3(RAI1):c.2907C>T (p.Asp969=) http://identifiers.org/clinvar/261936 ^@ NM_030665.3(RAI1):c.4295C>T (p.Pro1432Leu) http://identifiers.org/clinvar/260700 ^@ NM_016239.3(MYO15A):c.54G>A (p.Lys18=) http://identifiers.org/clinvar/260699 ^@ NM_016239.3(MYO15A):c.1854C>T (p.Asp618=) http://identifiers.org/clinvar/260701 ^@ NM_016239.3(MYO15A):c.6046+18G>A http://identifiers.org/clinvar/260702 ^@ NM_016239.3(MYO15A):c.7655-17G>A http://identifiers.org/clinvar/260676 ^@ NM_015681.4(B9D1):c.580T>C (p.Leu194=) http://identifiers.org/clinvar/260675 ^@ NM_015681.4(B9D1):c.472+28C>T http://identifiers.org/clinvar/260674 ^@ NM_015681.4(B9D1):c.376T>A (p.Ser126Thr) http://identifiers.org/clinvar/260673 ^@ NM_015681.4(B9D1):c.244+19T>C http://identifiers.org/clinvar/260672 ^@ NM_015681.4(B9D1):c.237C>G (p.Pro79=) http://identifiers.org/clinvar/260671 ^@ NM_015681.4(B9D1):c.181C>T (p.Arg61Trp) http://identifiers.org/clinvar/256109 ^@ NM_000430.3(PAFAH1B1):c.118-14T>C http://identifiers.org/clinvar/256110 ^@ NM_000430.3(PAFAH1B1):c.192+43T>C http://identifiers.org/clinvar/256111 ^@ NM_000430.3(PAFAH1B1):c.192+49C>T http://identifiers.org/clinvar/259652 ^@ NM_005148.3(UNC119):c.*1C>T http://identifiers.org/clinvar/262928 ^@ NM_178170.2(NEK8):c.1170T>C (p.Gly390=) http://identifiers.org/clinvar/262929 ^@ NM_178170.2(NEK8):c.1770C>T (p.His590=) http://identifiers.org/clinvar/259673 ^@ NM_005208.4(CRYBA1):c.74C>T (p.Pro25Leu) http://identifiers.org/clinvar/259671 ^@ NM_005208.4(CRYBA1):c.215+16C>T http://identifiers.org/clinvar/259672 ^@ NM_005208.4(CRYBA1):c.456C>T (p.Gly152=) http://identifiers.org/clinvar/257274 ^@ NM_001042492.2(NF1):c.-22G>C http://identifiers.org/clinvar/257283 ^@ NM_001042492.2(NF1):c.288+41G>A http://identifiers.org/clinvar/257296 ^@ NM_001042492.2(NF1):c.655-29T>C http://identifiers.org/clinvar/257309 ^@ NM_001042492.2(NF1):c.889-25_889-21delTTATC http://identifiers.org/clinvar/257276 ^@ NM_001042492.2(NF1):c.1393-32T>C http://identifiers.org/clinvar/257275 ^@ NM_001042492.2(NF1):c.1393-31G>A http://identifiers.org/clinvar/257277 ^@ NM_001042492.2(NF1):c.1528-29dupT http://identifiers.org/clinvar/257278 ^@ NM_001042492.2(NF1):c.1641+39T>C http://identifiers.org/clinvar/257279 ^@ NM_001042492.2(NF1):c.1846-39C>T http://identifiers.org/clinvar/257280 ^@ NM_001042492.2(NF1):c.2544G>C (p.Gly848=) http://identifiers.org/clinvar/257281 ^@ NM_001042492.2(NF1):c.2803A>G (p.Asn935Asp) http://identifiers.org/clinvar/257282 ^@ NM_001042492.2(NF1):c.2851-16T>C http://identifiers.org/clinvar/257284 ^@ NM_001042492.2(NF1):c.3496+19T>C http://identifiers.org/clinvar/257285 ^@ NM_001042492.2(NF1):c.3496+33C>A http://identifiers.org/clinvar/257286 ^@ NM_001042492.2(NF1):c.3974+38T>G http://identifiers.org/clinvar/257287 ^@ NM_001042492.2(NF1):c.4119C>T (p.Cys1373=) http://identifiers.org/clinvar/257288 ^@ NM_001042492.2(NF1):c.4257C>T (p.Val1419=) http://identifiers.org/clinvar/257290 ^@ NM_001042492.2(NF1):c.4431-46G>C http://identifiers.org/clinvar/257289 ^@ NM_001042492.2(NF1):c.4431-21_4431-19dup http://identifiers.org/clinvar/257291 ^@ NM_001042492.2(NF1):c.4578-39A>G http://identifiers.org/clinvar/257292 ^@ NM_001042492.2(NF1):c.4835+36T>C http://identifiers.org/clinvar/257293 ^@ NM_001042492.2(NF1):c.5268+23T>C http://identifiers.org/clinvar/257294 ^@ NM_001042492.2(NF1):c.5609+19T>A http://identifiers.org/clinvar/257295 ^@ NM_001042492.2(NF1):c.5813-40_5813-39dupTT http://identifiers.org/clinvar/257297 ^@ NM_001042492.2(NF1):c.6642+45T>A http://identifiers.org/clinvar/257298 ^@ NM_001042492.2(NF1):c.6921+40A>G http://identifiers.org/clinvar/257299 ^@ NM_001042492.2(NF1):c.6922-14_6922-13delAT http://identifiers.org/clinvar/257300 ^@ NM_001042492.2(NF1):c.7189+37C>G http://identifiers.org/clinvar/257301 ^@ NM_001042492.2(NF1):c.7190-19_7190-8delGTTTGTTTGTTT http://identifiers.org/clinvar/257302 ^@ NM_001042492.2(NF1):c.7321+19_7321+22delCAAA http://identifiers.org/clinvar/257303 ^@ NM_001042492.2(NF1):c.7458-29G>A http://identifiers.org/clinvar/257304 ^@ NM_001042492.2(NF1):c.7738+46G>A http://identifiers.org/clinvar/257305 ^@ NM_001042492.2(NF1):c.7971-19G>T http://identifiers.org/clinvar/257306 ^@ NM_001042492.2(NF1):c.8113+20G>A http://identifiers.org/clinvar/257307 ^@ NM_001042492.2(NF1):c.8161-45A>C http://identifiers.org/clinvar/257308 ^@ NM_001042492.2(NF1):c.8478C>T (p.Ser2826=) http://identifiers.org/clinvar/257153 ^@ NM_001031681.2(CTNS):c.462T>C (p.Ser154=) http://identifiers.org/clinvar/257154 ^@ NM_001031681.2(CTNS):c.504G>A (p.Thr168=) http://identifiers.org/clinvar/257155 ^@ NM_001031681.2(CTNS):c.554A>G (p.Tyr185Cys) http://identifiers.org/clinvar/257156 ^@ NM_001031681.2(CTNS):c.561+4C>T http://identifiers.org/clinvar/257157 ^@ NM_001031681.2(CTNS):c.779C>T (p.Thr260Ile) http://identifiers.org/clinvar/257158 ^@ NM_001031681.2(CTNS):c.970+15G>A http://identifiers.org/clinvar/257152 ^@ NM_001031681.2(CTNS):c.1138C>G (p.Pro380Ala) http://identifiers.org/clinvar/256210 ^@ NM_000458.3(HNF1B):c.810-17C>T http://identifiers.org/clinvar/256209 ^@ NM_000458.3(HNF1B):c.684C>G (p.Asn228Lys) http://identifiers.org/clinvar/259121 ^@ NM_003673.3(TCAP):c.110+7G>A http://identifiers.org/clinvar/259120 ^@ NM_003673.3(TCAP):c.110+48C>T http://identifiers.org/clinvar/259122 ^@ NM_003673.3(TCAP):c.349C>T (p.Leu117=) http://identifiers.org/clinvar/259020 ^@ NM_003250.5(THRA):c.351C>T (p.Ala117=) http://identifiers.org/clinvar/259021 ^@ NM_003250.5(THRA):c.738C>T (p.Asp246=) http://identifiers.org/clinvar/256363 ^@ NM_000526.4(KRT14):c.202G>A (p.Gly68Ser) http://identifiers.org/clinvar/256364 ^@ NM_000526.4(KRT14):c.6C>T (p.Thr2=) http://identifiers.org/clinvar/261475 ^@ NM_021991.2(JUP):c.2046+22A>G http://identifiers.org/clinvar/261474 ^@ NM_021991.2(JUP):c.1774-34C>A http://identifiers.org/clinvar/261477 ^@ NM_021991.2(JUP):c.909+49T>C http://identifiers.org/clinvar/258593 ^@ NM_002230.2(JUP):c.909+17T>C http://identifiers.org/clinvar/261476 ^@ NM_021991.2(JUP):c.469-48C>T http://identifiers.org/clinvar/261438 ^@ NM_021939.3(FKBP10):c.590A>G (p.Lys197Arg) http://identifiers.org/clinvar/261437 ^@ NM_021939.3(FKBP10):c.1400-4C>G http://identifiers.org/clinvar/262464 ^@ NM_139276.2(STAT3):c.2144+20C>T http://identifiers.org/clinvar/262025 ^@ NM_032387.4(WNK4):c.3432-20T>C http://identifiers.org/clinvar/255351 ^@ NM_000151.3(G6PC):c.340+42C>T http://identifiers.org/clinvar/255350 ^@ NM_000151.3(G6PC):c.*23T>C http://identifiers.org/clinvar/259424 ^@ NM_004527.3(MEOX1):c.80C>T (p.Ser27Leu) http://identifiers.org/clinvar/259423 ^@ NM_004527.3(MEOX1):c.11C>T (p.Ala4Val) http://identifiers.org/clinvar/262689 ^@ NM_153006.2(NAGS):c.915+29C>T http://identifiers.org/clinvar/262687 ^@ NM_153006.2(NAGS):c.1096+20C>G http://identifiers.org/clinvar/262688 ^@ NM_153006.2(NAGS):c.1451+9T>C http://identifiers.org/clinvar/262686 ^@ NM_153006.2(NAGS):c.*3C>T http://identifiers.org/clinvar/262365 ^@ NM_138387.3(G6PC3):c.219-50C>G http://identifiers.org/clinvar/262366 ^@ NM_138387.3(G6PC3):c.381G>A (p.Thr127=) http://identifiers.org/clinvar/262367 ^@ NM_138387.3(G6PC3):c.566G>A (p.Arg189Gln) http://identifiers.org/clinvar/255901 ^@ NM_000342.3(SLC4A1):c.*12_*17delAGGCCC http://identifiers.org/clinvar/255913 ^@ NM_000342.3(SLC4A1):c.2712C>T (p.Tyr904=) http://identifiers.org/clinvar/255912 ^@ NM_000342.3(SLC4A1):c.2688T>C (p.Asp896=) http://identifiers.org/clinvar/255911 ^@ NM_000342.3(SLC4A1):c.2584G>A (p.Val862Ile) http://identifiers.org/clinvar/255910 ^@ NM_000342.3(SLC4A1):c.2311+19G>A http://identifiers.org/clinvar/255909 ^@ NM_000342.3(SLC4A1):c.1953C>T (p.His651=) http://identifiers.org/clinvar/255908 ^@ NM_000342.3(SLC4A1):c.1800+12C>T http://identifiers.org/clinvar/255907 ^@ NM_000342.3(SLC4A1):c.1770G>A (p.Lys590=) http://identifiers.org/clinvar/255905 ^@ NM_000342.3(SLC4A1):c.1323G>A (p.Leu441=) http://identifiers.org/clinvar/255904 ^@ NM_000342.3(SLC4A1):c.1249C>T (p.Leu417=) http://identifiers.org/clinvar/255915 ^@ NM_000342.3(SLC4A1):c.924G>A (p.Leu308=) http://identifiers.org/clinvar/255914 ^@ NM_000342.3(SLC4A1):c.539G>A (p.Arg180His) http://identifiers.org/clinvar/255903 ^@ NM_000342.3(SLC4A1):c.113A>C (p.Asp38Ala) http://identifiers.org/clinvar/255906 ^@ NM_000342.3(SLC4A1):c.16-14G>A http://identifiers.org/clinvar/255902 ^@ NM_000342.3(SLC4A1):c.-3G>A http://identifiers.org/clinvar/258552 ^@ NM_002087.3(GRN):c.546G>A (p.Thr182=) http://identifiers.org/clinvar/258553 ^@ NM_002087.3(GRN):c.835+7G>A http://identifiers.org/clinvar/258551 ^@ NM_002087.3(GRN):c.1227G>A (p.Thr409=) http://identifiers.org/clinvar/256040 ^@ NM_000419.4(ITGA2B):c.3063C>T (p.Val1021=) http://identifiers.org/clinvar/256039 ^@ NM_000419.4(ITGA2B):c.2188-7C>G http://identifiers.org/clinvar/256038 ^@ NM_000419.4(ITGA2B):c.2094+13C>T http://identifiers.org/clinvar/259255 ^@ NM_004247.3(EFTUD2):c.2715+18G>C http://identifiers.org/clinvar/259254 ^@ NM_004247.3(EFTUD2):c.1638T>C (p.Ala546=) http://identifiers.org/clinvar/259253 ^@ NM_004247.3(EFTUD2):c.1608-17A>T http://identifiers.org/clinvar/259250 ^@ NM_004247.3(EFTUD2):c.1058+3_1058+7delAAGTA http://identifiers.org/clinvar/259256 ^@ NM_004247.3(EFTUD2):c.994+7G>A http://identifiers.org/clinvar/259252 ^@ NM_004247.3(EFTUD2):c.133G>A (p.Val45Ile) http://identifiers.org/clinvar/259251 ^@ NM_004247.3(EFTUD2):c.106-17C>T http://identifiers.org/clinvar/263318 ^@ NM_213607.2(CCDC103):c.276+6T>C http://identifiers.org/clinvar/263319 ^@ NM_213607.2(CCDC103):c.303G>A (p.Thr101=) http://identifiers.org/clinvar/263320 ^@ NM_213607.2(CCDC103):c.618C>T (p.Ser206=) http://identifiers.org/clinvar/263317 ^@ NM_213607.2(CCDC103):c.*4G>A http://identifiers.org/clinvar/257501 ^@ NM_001123066.3(MAPT):c.-13A>G http://identifiers.org/clinvar/257503 ^@ NM_001123066.3(MAPT):c.220+18C>T http://identifiers.org/clinvar/257504 ^@ NM_001123066.3(MAPT):c.307+9A>G http://identifiers.org/clinvar/257505 ^@ NM_001123066.3(MAPT):c.953C>T (p.Ser318Leu) http://identifiers.org/clinvar/257502 ^@ NM_001123066.3(MAPT):c.1108C>T (p.Arg370Trp) http://identifiers.org/clinvar/259264 ^@ NM_004287.4(GOSR2):c.405C>T (p.Asn135=) http://identifiers.org/clinvar/255534 ^@ NM_000212.2(ITGB3):c.-7G>C http://identifiers.org/clinvar/255540 ^@ NM_000212.2(ITGB3):c.342T>C (p.Ile114=) http://identifiers.org/clinvar/255541 ^@ NM_000212.2(ITGB3):c.882T>C (p.Pro294=) http://identifiers.org/clinvar/255535 ^@ NM_000212.2(ITGB3):c.1143A>C (p.Val381=) http://identifiers.org/clinvar/255536 ^@ NM_000212.2(ITGB3):c.1533A>G (p.Glu511=) http://identifiers.org/clinvar/255537 ^@ NM_000212.2(ITGB3):c.1545G>A (p.Arg515=) http://identifiers.org/clinvar/255538 ^@ NM_000212.2(ITGB3):c.1914-19T>C http://identifiers.org/clinvar/255539 ^@ NM_000212.2(ITGB3):c.2301+9C>T http://identifiers.org/clinvar/261005 ^@ NM_018129.3(PNPO):c.139-4C>G http://identifiers.org/clinvar/254885 ^@ NM_000080.3(CHRNE):c.*43T>C http://identifiers.org/clinvar/254884 ^@ NM_000080.3(CHRNE):c.*37G>A http://identifiers.org/clinvar/254886 ^@ NM_000080.3(CHRNE):c.*5C>T http://identifiers.org/clinvar/254893 ^@ NM_000080.3(CHRNE):c.1425C>T (p.Leu475=) http://identifiers.org/clinvar/254892 ^@ NM_000080.3(CHRNE):c.1416C>T (p.Leu472=) http://identifiers.org/clinvar/254891 ^@ NM_000080.3(CHRNE):c.1220-45C>T http://identifiers.org/clinvar/254890 ^@ NM_000080.3(CHRNE):c.1219+17_1219+22delTGGCCC http://identifiers.org/clinvar/254889 ^@ NM_000080.3(CHRNE):c.1032+8C>T http://identifiers.org/clinvar/254904 ^@ NM_000080.3(CHRNE):c.966C>T (p.Cys322=) http://identifiers.org/clinvar/254903 ^@ NM_000080.3(CHRNE):c.917+15C>G http://identifiers.org/clinvar/254902 ^@ NM_000080.3(CHRNE):c.803-6_803-3delCTCC http://identifiers.org/clinvar/254900 ^@ NM_000080.3(CHRNE):c.500+49C>T http://identifiers.org/clinvar/254899 ^@ NM_000080.3(CHRNE):c.500+39G>A http://identifiers.org/clinvar/254898 ^@ NM_000080.3(CHRNE):c.465C>T (p.Phe155=) http://identifiers.org/clinvar/254897 ^@ NM_000080.3(CHRNE):c.420T>C (p.Pro140=) http://identifiers.org/clinvar/254896 ^@ NM_000080.3(CHRNE):c.344+18C>T http://identifiers.org/clinvar/254895 ^@ NM_000080.3(CHRNE):c.235-25C>T http://identifiers.org/clinvar/254894 ^@ NM_000080.3(CHRNE):c.174G>A (p.Thr58=) http://identifiers.org/clinvar/254901 ^@ NM_000080.3(CHRNE):c.6A>G (p.Ala2=) http://identifiers.org/clinvar/254888 ^@ NM_000080.3(CHRNE):c.-8G>A http://identifiers.org/clinvar/254887 ^@ NM_000080.3(CHRNE):c.-70C>T http://identifiers.org/clinvar/255460 ^@ NM_000173.6(GP1BA):c.-5T>C http://identifiers.org/clinvar/255462 ^@ NM_000173.6(GP1BA):c.106A>G (p.Arg36Gly) http://identifiers.org/clinvar/255469 ^@ NM_000173.6(GP1BA):c.774C>T (p.Asn258=) http://identifiers.org/clinvar/255461 ^@ NM_000173.6(GP1BA):c.1068A>C (p.Pro356=) http://identifiers.org/clinvar/255463 ^@ NM_000173.6(GP1BA):c.1074A>G (p.Arg358=) http://identifiers.org/clinvar/255464 ^@ NM_000173.6(GP1BA):c.1232C>T (p.Pro411Leu) http://identifiers.org/clinvar/255465 ^@ NM_000173.6(GP1BA):c.1305C>T (p.Thr435=) http://identifiers.org/clinvar/255467 ^@ NM_000173.6(GP1BA):c.1311A>G (p.Pro437=) http://identifiers.org/clinvar/255466 ^@ NM_000173.6(GP1BA):c.1311_1349del39 (p.Ser441_Thr453del) http://identifiers.org/clinvar/255468 ^@ NM_000173.6(GP1BA):c.1321_1359del39 (p.Ser441_Thr453del) http://identifiers.org/clinvar/259607 ^@ NM_005022.3(PFN1):c.334C>T (p.Leu112=) http://identifiers.org/clinvar/259676 ^@ NM_005220.2(DLX3):c.402G>A (p.Thr134=) http://identifiers.org/clinvar/259675 ^@ NM_005220.2(DLX3):c.138C>T (p.Pro46=) http://identifiers.org/clinvar/254719 ^@ NM_000023.3(SGCA):c.37+23G>A http://identifiers.org/clinvar/254720 ^@ NM_000023.3(SGCA):c.62C>T (p.Thr21Ile) http://identifiers.org/clinvar/254717 ^@ NM_000023.3(SGCA):c.158-4C>A http://identifiers.org/clinvar/254718 ^@ NM_000023.3(SGCA):c.313-39C>A http://identifiers.org/clinvar/254721 ^@ NM_000023.3(SGCA):c.662G>A (p.Arg221His) http://identifiers.org/clinvar/254722 ^@ NM_000023.3(SGCA):c.957-43G>A http://identifiers.org/clinvar/254948 ^@ NM_000088.3(COL1A1):c.2560-18C>G http://identifiers.org/clinvar/254947 ^@ NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) http://identifiers.org/clinvar/254946 ^@ NM_000088.3(COL1A1):c.1930-14T>C http://identifiers.org/clinvar/254951 ^@ NM_000088.3(COL1A1):c.859-14T>G http://identifiers.org/clinvar/254950 ^@ NM_000088.3(COL1A1):c.642+18A>C http://identifiers.org/clinvar/254949 ^@ NM_000088.3(COL1A1):c.299-20C>G http://identifiers.org/clinvar/254945 ^@ NM_000088.3(COL1A1):c.177G>T (p.Arg59=) http://identifiers.org/clinvar/259116 ^@ NM_003647.2(DGKE):c.579A>C (p.Thr193=) http://identifiers.org/clinvar/260883 ^@ NM_017777.3(MKS1):c.1600C>A (p.Arg534=) http://identifiers.org/clinvar/260882 ^@ NM_017777.3(MKS1):c.1588+12C>G http://identifiers.org/clinvar/260881 ^@ NM_017777.3(MKS1):c.1273+39C>T http://identifiers.org/clinvar/260880 ^@ NM_017777.3(MKS1):c.1273+11G>A http://identifiers.org/clinvar/260879 ^@ NM_017777.3(MKS1):c.1063A>G (p.Thr355Ala) http://identifiers.org/clinvar/260878 ^@ NM_017777.3(MKS1):c.1014G>A (p.Leu338=) http://identifiers.org/clinvar/260889 ^@ NM_017777.3(MKS1):c.915+19_915+21delTGC http://identifiers.org/clinvar/260888 ^@ NM_017777.3(MKS1):c.874A>G (p.Lys292Glu) http://identifiers.org/clinvar/260887 ^@ NM_017777.3(MKS1):c.771G>A (p.Lys257=) http://identifiers.org/clinvar/260886 ^@ NM_017777.3(MKS1):c.644+14C>T http://identifiers.org/clinvar/260885 ^@ NM_017777.3(MKS1):c.515+12C>T http://identifiers.org/clinvar/260884 ^@ NM_017777.3(MKS1):c.468C>T (p.Val156=) http://identifiers.org/clinvar/260877 ^@ NM_017777.3(MKS1):c.-18C>G http://identifiers.org/clinvar/262303 ^@ NM_058216.2(RAD51C):c.706-46_706-44delATT http://identifiers.org/clinvar/259103 ^@ NM_003620.3(PPM1D):c.456C>T (p.Ala152=) http://identifiers.org/clinvar/259102 ^@ NM_003620.3(PPM1D):c.1486A>G (p.Ile496Val) http://identifiers.org/clinvar/261034 ^@ NM_018488.3(TBX4):c.402-8G>A http://identifiers.org/clinvar/261035 ^@ NM_018488.3(TBX4):c.941C>T (p.Ala314Val) http://identifiers.org/clinvar/261033 ^@ NM_018488.3(TBX4):c.1446C>T (p.Val482=) http://identifiers.org/clinvar/262005 ^@ NM_032043.2(BRIP1):c.1795-47G>C http://identifiers.org/clinvar/262007 ^@ NM_032043.2(BRIP1):c.508-31C>G http://identifiers.org/clinvar/262006 ^@ NM_032043.2(BRIP1):c.438A>C (p.Ile146=) http://identifiers.org/clinvar/262008 ^@ NM_032043.2(BRIP1):c.94-18T>G http://identifiers.org/clinvar/256809 ^@ NM_000789.3(ACE):c.582C>T (p.Asn194=) http://identifiers.org/clinvar/256810 ^@ NM_000789.3(ACE):c.655+13C>T http://identifiers.org/clinvar/256799 ^@ NM_000789.3(ACE):c.1215C>T (p.Pro405=) http://identifiers.org/clinvar/256800 ^@ NM_000789.3(ACE):c.2193A>G (p.Ala731=) http://identifiers.org/clinvar/256802 ^@ NM_000789.3(ACE):c.2306-19G>C http://identifiers.org/clinvar/256801 ^@ NM_000789.3(ACE):c.2306-11A>C http://identifiers.org/clinvar/256803 ^@ NM_000789.3(ACE):c.2328G>A (p.Thr776=) http://identifiers.org/clinvar/256804 ^@ NM_000789.3(ACE):c.3387T>C (p.Phe1129=) http://identifiers.org/clinvar/256805 ^@ NM_000789.3(ACE):c.3691+5C>T http://identifiers.org/clinvar/256806 ^@ NM_000789.3(ACE):c.3692-6G>A http://identifiers.org/clinvar/256807 ^@ NM_000789.3(ACE):c.3836G>A (p.Arg1279Gln) http://identifiers.org/clinvar/256808 ^@ NM_000789.3(ACE):c.3856C>A (p.Arg1286Ser) http://identifiers.org/clinvar/255859 ^@ NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) http://identifiers.org/clinvar/255855 ^@ NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) http://identifiers.org/clinvar/255854 ^@ NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) http://identifiers.org/clinvar/255853 ^@ NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) http://identifiers.org/clinvar/255851 ^@ NM_000334.4(SCN4A):c.4017+15G>T http://identifiers.org/clinvar/255849 ^@ NM_000334.4(SCN4A):c.3720+10A>G http://identifiers.org/clinvar/255850 ^@ NM_000334.4(SCN4A):c.3720+9G>T http://identifiers.org/clinvar/255848 ^@ NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) http://identifiers.org/clinvar/255847 ^@ NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) http://identifiers.org/clinvar/255845 ^@ NM_000334.4(SCN4A):c.1606+20G>A http://identifiers.org/clinvar/255844 ^@ NM_000334.4(SCN4A):c.1453-23C>T http://identifiers.org/clinvar/255843 ^@ NM_000334.4(SCN4A):c.1243-41A>G http://identifiers.org/clinvar/255842 ^@ NM_000334.4(SCN4A):c.1100+7G>A http://identifiers.org/clinvar/255863 ^@ NM_000334.4(SCN4A):c.855G>A (p.Pro285=) http://identifiers.org/clinvar/255862 ^@ NM_000334.4(SCN4A):c.726C>T (p.Ala242=) http://identifiers.org/clinvar/255861 ^@ NM_000334.4(SCN4A):c.703+6G>A http://identifiers.org/clinvar/255860 ^@ NM_000334.4(SCN4A):c.612-17delC http://identifiers.org/clinvar/255858 ^@ NM_000334.4(SCN4A):c.489C>G (p.Thr163=) http://identifiers.org/clinvar/255857 ^@ NM_000334.4(SCN4A):c.483-9C>A http://identifiers.org/clinvar/255856 ^@ NM_000334.4(SCN4A):c.483-25T>C http://identifiers.org/clinvar/255852 ^@ NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) http://identifiers.org/clinvar/255846 ^@ NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) http://identifiers.org/clinvar/255864 ^@ NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) http://identifiers.org/clinvar/260388 ^@ NM_014336.4(AIPL1):c.-17C>A http://identifiers.org/clinvar/260154 ^@ NM_007215.3(POLG2):c.1191+7dupT http://identifiers.org/clinvar/261947 ^@ NM_031220.3(PITPNM3):c.2620-19C>A http://identifiers.org/clinvar/261946 ^@ NM_031220.3(PITPNM3):c.2430T>C (p.Asp810=) http://identifiers.org/clinvar/261944 ^@ NM_031220.3(PITPNM3):c.2307-5A>G http://identifiers.org/clinvar/261943 ^@ NM_031220.3(PITPNM3):c.2156+20C>T http://identifiers.org/clinvar/261942 ^@ NM_031220.3(PITPNM3):c.1773+19C>T http://identifiers.org/clinvar/261951 ^@ NM_031220.3(PITPNM3):c.705C>T (p.Thr235=) http://identifiers.org/clinvar/261950 ^@ NM_031220.3(PITPNM3):c.699C>T (p.Val233=) http://identifiers.org/clinvar/261948 ^@ NM_031220.3(PITPNM3):c.477C>T (p.Ser159=) http://identifiers.org/clinvar/261945 ^@ NM_031220.3(PITPNM3):c.238G>A (p.Ala80Thr) http://identifiers.org/clinvar/261949 ^@ NM_031220.3(PITPNM3):c.49C>T (p.Pro17Ser) http://identifiers.org/clinvar/259514 ^@ NM_004655.3(AXIN2):c.2062C>T (p.Leu688=) http://identifiers.org/clinvar/259513 ^@ NM_004655.3(AXIN2):c.1907+39T>A http://identifiers.org/clinvar/259512 ^@ NM_004655.3(AXIN2):c.1712+19G>T http://identifiers.org/clinvar/259510 ^@ NM_004655.3(AXIN2):c.1386C>T (p.Pro462=) http://identifiers.org/clinvar/259509 ^@ NM_004655.3(AXIN2):c.1365A>G (p.Pro455=) http://identifiers.org/clinvar/259516 ^@ NM_004655.3(AXIN2):c.956+16A>G http://identifiers.org/clinvar/259515 ^@ NM_004655.3(AXIN2):c.432T>C (p.Ile144=) http://identifiers.org/clinvar/259511 ^@ NM_004655.3(AXIN2):c.148C>T (p.Pro50Ser) http://identifiers.org/clinvar/260830 ^@ NM_017565.3(FAM20A):c.1589T>C (p.Leu530Ser) http://identifiers.org/clinvar/260833 ^@ NM_017565.3(FAM20A):c.996C>A (p.Asn332Lys) http://identifiers.org/clinvar/260831 ^@ NM_017565.3(FAM20A):c.345G>A (p.Ser115=) http://identifiers.org/clinvar/260832 ^@ NM_017565.3(FAM20A):c.39G>A (p.Leu13=) http://identifiers.org/clinvar/254699 ^@ NM_000018.3(ACADVL):c.277+6G>A http://identifiers.org/clinvar/254700 ^@ NM_000018.3(ACADVL):c.308A>G (p.Lys103Arg) http://identifiers.org/clinvar/254701 ^@ NM_000018.3(ACADVL):c.478-22_478-21delCA http://identifiers.org/clinvar/254702 ^@ NM_000018.3(ACADVL):c.552C>T (p.Ile184=) http://identifiers.org/clinvar/254703 ^@ NM_000018.3(ACADVL):c.693T>C (p.Ser231=) http://identifiers.org/clinvar/254704 ^@ NM_000018.3(ACADVL):c.756T>C (p.Asn252=) http://identifiers.org/clinvar/254705 ^@ NM_000018.3(ACADVL):c.822C>T (p.Ala274=) http://identifiers.org/clinvar/254695 ^@ NM_000018.3(ACADVL):c.1533G>A (p.Arg511=) http://identifiers.org/clinvar/254696 ^@ NM_000018.3(ACADVL):c.1755C>T (p.Ala585=) http://identifiers.org/clinvar/254697 ^@ NM_000018.3(ACADVL):c.1828-4C>G http://identifiers.org/clinvar/254698 ^@ NM_000018.3(ACADVL):c.1839G>A (p.Arg613=) http://identifiers.org/clinvar/261649 ^@ NM_023036.4(DNAI2):c.43G>A (p.Gly15Arg) http://identifiers.org/clinvar/261650 ^@ NM_023036.4(DNAI2):c.45G>A (p.Gly15=) http://identifiers.org/clinvar/261647 ^@ NM_023036.4(DNAI2):c.258C>T (p.Asn86=) http://identifiers.org/clinvar/261648 ^@ NM_023036.4(DNAI2):c.345+27A>G http://identifiers.org/clinvar/261651 ^@ NM_023036.4(DNAI2):c.467+10T>C http://identifiers.org/clinvar/261652 ^@ NM_023036.4(DNAI2):c.468-28C>T http://identifiers.org/clinvar/261653 ^@ NM_023036.4(DNAI2):c.610+31G>A http://identifiers.org/clinvar/261654 ^@ NM_023036.4(DNAI2):c.725-27C>T http://identifiers.org/clinvar/261655 ^@ NM_023036.4(DNAI2):c.747C>T (p.Gly249=) http://identifiers.org/clinvar/261656 ^@ NM_023036.4(DNAI2):c.754G>A (p.Val252Met) http://identifiers.org/clinvar/261657 ^@ NM_023036.4(DNAI2):c.865-18C>T http://identifiers.org/clinvar/261658 ^@ NM_023036.4(DNAI2):c.933G>A (p.Lys311=) http://identifiers.org/clinvar/261659 ^@ NM_023036.4(DNAI2):c.981T>C (p.Ser327=) http://identifiers.org/clinvar/261637 ^@ NM_023036.4(DNAI2):c.1011C>T (p.Thr337=) http://identifiers.org/clinvar/261638 ^@ NM_023036.4(DNAI2):c.1053G>A (p.Thr351=) http://identifiers.org/clinvar/261639 ^@ NM_023036.4(DNAI2):c.1131G>A (p.Pro377=) http://identifiers.org/clinvar/261640 ^@ NM_023036.4(DNAI2):c.1348-34_1348-33delTC http://identifiers.org/clinvar/261641 ^@ NM_023036.4(DNAI2):c.1380G>T (p.Val460=) http://identifiers.org/clinvar/261642 ^@ NM_023036.4(DNAI2):c.1446G>T (p.Ser482=) http://identifiers.org/clinvar/261643 ^@ NM_023036.4(DNAI2):c.1572G>A (p.Lys524=) http://identifiers.org/clinvar/261644 ^@ NM_023036.4(DNAI2):c.1715C>T (p.Pro572Leu) http://identifiers.org/clinvar/261645 ^@ NM_023036.4(DNAI2):c.1722+34G>A http://identifiers.org/clinvar/261646 ^@ NM_023036.4(DNAI2):c.1722+41C>T http://identifiers.org/clinvar/261635 ^@ NM_023036.4(DNAI2):c.*18C>T http://identifiers.org/clinvar/261636 ^@ NM_023036.4(DNAI2):c.*22G>A http://identifiers.org/clinvar/256777 ^@ NM_000747.2(CHRNB1):c.84T>C (p.Gly28=) http://identifiers.org/clinvar/256774 ^@ NM_000747.2(CHRNB1):c.198+36G>T http://identifiers.org/clinvar/256775 ^@ NM_000747.2(CHRNB1):c.720C>T (p.Ile240=) http://identifiers.org/clinvar/256776 ^@ NM_000747.2(CHRNB1):c.821-16C>G http://identifiers.org/clinvar/256771 ^@ NM_000747.2(CHRNB1):c.1044+25C>A http://identifiers.org/clinvar/256772 ^@ NM_000747.2(CHRNB1):c.1217+28G>A http://identifiers.org/clinvar/256773 ^@ NM_000747.2(CHRNB1):c.1365+17T>C http://identifiers.org/clinvar/256770 ^@ NM_000747.2(CHRNB1):c.*18C>T http://identifiers.org/clinvar/263292 ^@ NM_207346.2(TSEN54):c.222-40C>G http://identifiers.org/clinvar/263291 ^@ NM_207346.2(TSEN54):c.222-18C>T http://identifiers.org/clinvar/263293 ^@ NM_207346.2(TSEN54):c.286-41_286-33delGCCCTCCCT http://identifiers.org/clinvar/263294 ^@ NM_207346.2(TSEN54):c.468+47A>T http://identifiers.org/clinvar/263296 ^@ NM_207346.2(TSEN54):c.624-31A>G http://identifiers.org/clinvar/263295 ^@ NM_207346.2(TSEN54):c.624-10C>T http://identifiers.org/clinvar/255542 ^@ NM_000213.4(ITGB4):c.4521C>G (p.Pro1507=) http://identifiers.org/clinvar/255543 ^@ NM_000213.4(ITGB4):c.5336T>C (p.Leu1779Pro) http://identifiers.org/clinvar/263241 ^@ NM_199242.2(UNC13D):c.3252T>C (p.His1084=) http://identifiers.org/clinvar/263240 ^@ NM_199242.2(UNC13D):c.3198A>G (p.Glu1066=) http://identifiers.org/clinvar/263239 ^@ NM_199242.2(UNC13D):c.3078C>T (p.Pro1026=) http://identifiers.org/clinvar/263238 ^@ NM_199242.2(UNC13D):c.2943G>A (p.Glu981=) http://identifiers.org/clinvar/263237 ^@ NM_199242.2(UNC13D):c.2896C>T (p.Arg966Trp) http://identifiers.org/clinvar/263236 ^@ NM_199242.2(UNC13D):c.2830+37C>G http://identifiers.org/clinvar/263234 ^@ NM_199242.2(UNC13D):c.2782C>T (p.Arg928Cys) http://identifiers.org/clinvar/263233 ^@ NM_199242.2(UNC13D):c.2709+48C>T http://identifiers.org/clinvar/263232 ^@ NM_199242.2(UNC13D):c.2625+38G>A http://identifiers.org/clinvar/263228 ^@ NM_199242.2(UNC13D):c.2599A>G (p.Lys867Glu) http://identifiers.org/clinvar/263226 ^@ NM_199242.2(UNC13D):c.2448-8dupC http://identifiers.org/clinvar/263225 ^@ NM_199242.2(UNC13D):c.2299-46C>T http://identifiers.org/clinvar/263224 ^@ NM_199242.2(UNC13D):c.2298+15C>T http://identifiers.org/clinvar/263223 ^@ NM_199242.2(UNC13D):c.2052C>G (p.Leu684=) http://identifiers.org/clinvar/263221 ^@ NM_199242.2(UNC13D):c.1992+11T>C http://identifiers.org/clinvar/263222 ^@ NM_199242.2(UNC13D):c.1992+5G>A http://identifiers.org/clinvar/263220 ^@ NM_199242.2(UNC13D):c.1977C>T (p.Thr659=) http://identifiers.org/clinvar/263218 ^@ NM_199242.2(UNC13D):c.1744C>T (p.Leu582=) http://identifiers.org/clinvar/263217 ^@ NM_199242.2(UNC13D):c.1728-48T>C http://identifiers.org/clinvar/263216 ^@ NM_199242.2(UNC13D):c.1611G>A (p.Val537=) http://identifiers.org/clinvar/263215 ^@ NM_199242.2(UNC13D):c.1596+36A>G http://identifiers.org/clinvar/263213 ^@ NM_199242.2(UNC13D):c.1390-38T>C http://identifiers.org/clinvar/263212 ^@ NM_199242.2(UNC13D):c.1389+36G>A http://identifiers.org/clinvar/263210 ^@ NM_199242.2(UNC13D):c.1056-13C>T http://identifiers.org/clinvar/263209 ^@ NM_199242.2(UNC13D):c.1055+47C>T http://identifiers.org/clinvar/263248 ^@ NM_199242.2(UNC13D):c.951+13T>G http://identifiers.org/clinvar/263247 ^@ NM_199242.2(UNC13D):c.888G>C (p.Pro296=) http://identifiers.org/clinvar/263246 ^@ NM_199242.2(UNC13D):c.847A>G (p.Ile283Val) http://identifiers.org/clinvar/263244 ^@ NM_199242.2(UNC13D):c.754-31C>T http://identifiers.org/clinvar/263245 ^@ NM_199242.2(UNC13D):c.754-49G>A http://identifiers.org/clinvar/263243 ^@ NM_199242.2(UNC13D):c.684-31C>T http://identifiers.org/clinvar/263242 ^@ NM_199242.2(UNC13D):c.594G>A (p.Ala198=) http://identifiers.org/clinvar/263235 ^@ NM_199242.2(UNC13D):c.279C>T (p.Pro93=) http://identifiers.org/clinvar/263231 ^@ NM_199242.2(UNC13D):c.262-7C>T http://identifiers.org/clinvar/263230 ^@ NM_199242.2(UNC13D):c.262-17G>A http://identifiers.org/clinvar/263229 ^@ NM_199242.2(UNC13D):c.261+26C>G http://identifiers.org/clinvar/263219 ^@ NM_199242.2(UNC13D):c.175G>A (p.Ala59Thr) http://identifiers.org/clinvar/263214 ^@ NM_199242.2(UNC13D):c.154-19G>A http://identifiers.org/clinvar/263211 ^@ NM_199242.2(UNC13D):c.117+30G>A http://identifiers.org/clinvar/263249 ^@ NM_199242.2(UNC13D):c.99G>A (p.Pro33=) http://identifiers.org/clinvar/263227 ^@ NM_199242.2(UNC13D):c.24G>A (p.Pro8=) http://identifiers.org/clinvar/259558 ^@ NM_004870.3(MPDU1):c.302+21C>T http://identifiers.org/clinvar/259559 ^@ NM_004870.3(MPDU1):c.507+44G>C http://identifiers.org/clinvar/259221 ^@ NM_004035.6(ACOX1):c.1771C>T (p.Arg591Cys) http://identifiers.org/clinvar/259220 ^@ NM_004035.6(ACOX1):c.1320T>C (p.Asp440=) http://identifiers.org/clinvar/259223 ^@ NM_004035.6(ACOX1):c.936C>G (p.Ile312Met) http://identifiers.org/clinvar/259222 ^@ NM_004035.6(ACOX1):c.921G>A (p.Arg307=) http://identifiers.org/clinvar/256601 ^@ NM_000546.5(TP53):c.1083G>A (p.Gly361=) http://identifiers.org/clinvar/256603 ^@ NM_000546.5(TP53):c.672+62A>G http://identifiers.org/clinvar/256602 ^@ NM_000546.5(TP53):c.559+8G>A http://identifiers.org/clinvar/256604 ^@ NM_000546.5(TP53):c.97-29C>A http://identifiers.org/clinvar/261001 ^@ NM_018081.2(WRAP53):c.202C>G (p.Arg68Gly) http://identifiers.org/clinvar/261002 ^@ NM_018081.2(WRAP53):c.407C>G (p.Pro136Arg) http://identifiers.org/clinvar/261003 ^@ NM_018081.2(WRAP53):c.450C>T (p.Phe150=) http://identifiers.org/clinvar/260995 ^@ NM_018081.2(WRAP53):c.1223G>A (p.Gly408Asp) http://identifiers.org/clinvar/260996 ^@ NM_018081.2(WRAP53):c.1308T>C (p.Ala436=) http://identifiers.org/clinvar/260997 ^@ NM_018081.2(WRAP53):c.1359C>T (p.Pro453=) http://identifiers.org/clinvar/260998 ^@ NM_018081.2(WRAP53):c.1482A>G (p.Glu494=) http://identifiers.org/clinvar/260999 ^@ NM_018081.2(WRAP53):c.1565C>G (p.Ala522Gly) http://identifiers.org/clinvar/261000 ^@ NM_018081.2(WRAP53):c.1641G>T (p.Leu547=) http://identifiers.org/clinvar/260946 ^@ NM_017950.3(CCDC40):c.-49C>A http://identifiers.org/clinvar/260945 ^@ NM_017950.3(CCDC40):c.-36C>T http://identifiers.org/clinvar/260981 ^@ NM_017950.3(CCDC40):c.93+18C>A http://identifiers.org/clinvar/255479 ^@ NM_000180.3(GUCY2D):c.726G>A (p.Val242=) http://identifiers.org/clinvar/260950 ^@ NM_017950.3(CCDC40):c.141C>T (p.Val47=) http://identifiers.org/clinvar/260973 ^@ NM_017950.3(CCDC40):c.384A>G (p.Ala128=) http://identifiers.org/clinvar/260974 ^@ NM_017950.3(CCDC40):c.470C>T (p.Thr157Ile) http://identifiers.org/clinvar/260976 ^@ NM_017950.3(CCDC40):c.553-41A>G http://identifiers.org/clinvar/260975 ^@ NM_017950.3(CCDC40):c.553-17G>C http://identifiers.org/clinvar/260977 ^@ NM_017950.3(CCDC40):c.677-3delC http://identifiers.org/clinvar/260978 ^@ NM_017950.3(CCDC40):c.699T>C (p.Asp233=) http://identifiers.org/clinvar/260979 ^@ NM_017950.3(CCDC40):c.850G>C (p.Asp284His) http://identifiers.org/clinvar/260980 ^@ NM_017950.3(CCDC40):c.856-18G>A http://identifiers.org/clinvar/260982 ^@ NM_017950.3(CCDC40):c.946G>A (p.Ala316Thr) http://identifiers.org/clinvar/260947 ^@ NM_017950.3(CCDC40):c.1038G>A (p.Glu346=) http://identifiers.org/clinvar/260948 ^@ NM_017950.3(CCDC40):c.1132G>A (p.Ala378Thr) http://identifiers.org/clinvar/260949 ^@ NM_017950.3(CCDC40):c.1220T>C (p.Ile407Thr) http://identifiers.org/clinvar/260951 ^@ NM_017950.3(CCDC40):c.1440+16G>A http://identifiers.org/clinvar/260952 ^@ NM_017950.3(CCDC40):c.1441-18C>G http://identifiers.org/clinvar/260953 ^@ NM_017950.3(CCDC40):c.1531G>C (p.Glu511Gln) http://identifiers.org/clinvar/260954 ^@ NM_017950.3(CCDC40):c.1562+33G>A http://identifiers.org/clinvar/260955 ^@ NM_017950.3(CCDC40):c.1722C>A (p.Thr574=) http://identifiers.org/clinvar/260956 ^@ NM_017950.3(CCDC40):c.2163C>A (p.Ile721=) http://identifiers.org/clinvar/260957 ^@ NM_017950.3(CCDC40):c.2227G>A (p.Glu743Lys) http://identifiers.org/clinvar/260958 ^@ NM_017950.3(CCDC40):c.2251C>A (p.Pro751Thr) http://identifiers.org/clinvar/260959 ^@ NM_017950.3(CCDC40):c.2332C>T (p.Leu778=) http://identifiers.org/clinvar/260960 ^@ NM_017950.3(CCDC40):c.2449+19G>A http://identifiers.org/clinvar/260961 ^@ NM_017950.3(CCDC40):c.2619+25G>A http://identifiers.org/clinvar/260962 ^@ NM_017950.3(CCDC40):c.2682G>A (p.Ala894=) http://identifiers.org/clinvar/260963 ^@ NM_017950.3(CCDC40):c.2832+20G>A http://identifiers.org/clinvar/260964 ^@ NM_017950.3(CCDC40):c.2892G>A (p.Ala964=) http://identifiers.org/clinvar/260965 ^@ NM_017950.3(CCDC40):c.2900G>A (p.Arg967His) http://identifiers.org/clinvar/260966 ^@ NM_017950.3(CCDC40):c.3021+24_3021+25delAG http://identifiers.org/clinvar/260968 ^@ NM_017950.3(CCDC40):c.3022-48C>T http://identifiers.org/clinvar/260967 ^@ NM_017950.3(CCDC40):c.3022-28G>A http://identifiers.org/clinvar/260969 ^@ NM_017950.3(CCDC40):c.3027C>T (p.Thr1009=) http://identifiers.org/clinvar/260970 ^@ NM_017950.3(CCDC40):c.3046G>A (p.Val1016Ile) http://identifiers.org/clinvar/260971 ^@ NM_017950.3(CCDC40):c.3109C>G (p.Leu1037Val) http://identifiers.org/clinvar/260972 ^@ NM_017950.3(CCDC40):c.3180+45A>G http://identifiers.org/clinvar/260944 ^@ NM_017950.3(CCDC40):c.*17C>T http://identifiers.org/clinvar/255362 ^@ NM_000152.4(GAA):c.32G>A (p.Arg11Gln) http://identifiers.org/clinvar/255363 ^@ NM_000152.4(GAA):c.547-39T>G http://identifiers.org/clinvar/255364 ^@ NM_000152.4(GAA):c.600C>T (p.Val200=) http://identifiers.org/clinvar/255365 ^@ NM_000152.4(GAA):c.658G>T (p.Val220Leu) http://identifiers.org/clinvar/255366 ^@ NM_000152.4(GAA):c.693-49C>T http://identifiers.org/clinvar/255367 ^@ NM_000152.4(GAA):c.859-18G>A http://identifiers.org/clinvar/255368 ^@ NM_000152.4(GAA):c.876C>T (p.Tyr292=) http://identifiers.org/clinvar/255352 ^@ NM_000152.4(GAA):c.1551+49C>A http://identifiers.org/clinvar/255353 ^@ NM_000152.4(GAA):c.1552-13G>A http://identifiers.org/clinvar/255354 ^@ NM_000152.4(GAA):c.1599C>T (p.Cys533=) http://identifiers.org/clinvar/255355 ^@ NM_000152.4(GAA):c.1636+43G>T http://identifiers.org/clinvar/255356 ^@ NM_000152.4(GAA):c.1830C>T (p.Ala610=) http://identifiers.org/clinvar/255357 ^@ NM_000152.4(GAA):c.1888+21G>A http://identifiers.org/clinvar/255358 ^@ NM_000152.4(GAA):c.1920T>G (p.Pro640=) http://identifiers.org/clinvar/255359 ^@ NM_000152.4(GAA):c.2331+24T>C http://identifiers.org/clinvar/255360 ^@ NM_000152.4(GAA):c.2526C>G (p.Ala842=) http://identifiers.org/clinvar/255361 ^@ NM_000152.4(GAA):c.2668G>C (p.Val890Leu) http://identifiers.org/clinvar/255475 ^@ NM_000180.3(GUCY2D):c.2345T>A (p.Leu782His) http://identifiers.org/clinvar/255476 ^@ NM_000180.3(GUCY2D):c.2763C>A (p.Val921=) http://identifiers.org/clinvar/255477 ^@ NM_000180.3(GUCY2D):c.3043+20G>C http://identifiers.org/clinvar/255478 ^@ NM_000180.3(GUCY2D):c.3044-7G>T http://identifiers.org/clinvar/255514 ^@ NM_000199.3(SGSH):c.1182G>T (p.Met394Ile) http://identifiers.org/clinvar/255513 ^@ NM_000199.3(SGSH):c.1116G>A (p.Met372Ile) http://identifiers.org/clinvar/255512 ^@ NM_000199.3(SGSH):c.1002C>T (p.Ala334=) http://identifiers.org/clinvar/255517 ^@ NM_000199.3(SGSH):c.664-36T>C http://identifiers.org/clinvar/255518 ^@ NM_000199.3(SGSH):c.664-39_664-38delCT http://identifiers.org/clinvar/255519 ^@ NM_000199.3(SGSH):c.664-50G>A http://identifiers.org/clinvar/255516 ^@ NM_000199.3(SGSH):c.507-7C>T http://identifiers.org/clinvar/255515 ^@ NM_000199.3(SGSH):c.250-26C>T http://identifiers.org/clinvar/255520 ^@ NM_000199.3(SGSH):c.89-39G>A http://identifiers.org/clinvar/255521 ^@ NM_000199.3(SGSH):c.89-45G>A http://identifiers.org/clinvar/257554 ^@ NM_001139.2(ALOX12B):c.650+7C>G http://identifiers.org/clinvar/261424 ^@ NM_021628.2(ALOXE3):c.2124C>T (p.Ser708=) http://identifiers.org/clinvar/261423 ^@ NM_021628.2(ALOXE3):c.1785+17C>A http://identifiers.org/clinvar/261422 ^@ NM_021628.2(ALOXE3):c.1392+17G>A http://identifiers.org/clinvar/261425 ^@ NM_021628.2(ALOXE3):c.785-14C>T http://identifiers.org/clinvar/262089 ^@ NM_032580.3(HES7):c.387A>G (p.Lys129=) http://identifiers.org/clinvar/262088 ^@ NM_032580.3(HES7):c.175T>C (p.Leu59=) http://identifiers.org/clinvar/262087 ^@ NM_032580.3(HES7):c.123G>A (p.Glu41=) http://identifiers.org/clinvar/261822 ^@ NM_025099.5(CTC1):c.435+3A>G http://identifiers.org/clinvar/257557 ^@ NM_001142633.2(PIK3R5):c.2299+18T>G http://identifiers.org/clinvar/257556 ^@ NM_001142633.2(PIK3R5):c.2299+13G>A http://identifiers.org/clinvar/257555 ^@ NM_001142633.2(PIK3R5):c.1572C>T (p.Ser524=) http://identifiers.org/clinvar/261531 ^@ NM_022068.3(PIEZO2):c.7911A>T (p.Gly2637=) http://identifiers.org/clinvar/261530 ^@ NM_022068.3(PIEZO2):c.7387G>A (p.Val2463Ile) http://identifiers.org/clinvar/261528 ^@ NM_022068.3(PIEZO2):c.7010+8G>A http://identifiers.org/clinvar/261527 ^@ NM_022068.3(PIEZO2):c.7010+7C>T http://identifiers.org/clinvar/261526 ^@ NM_022068.3(PIEZO2):c.6876C>T (p.Ala2292=) http://identifiers.org/clinvar/261525 ^@ NM_022068.3(PIEZO2):c.6696G>A (p.Pro2232=) http://identifiers.org/clinvar/261524 ^@ NM_022068.3(PIEZO2):c.6552C>T (p.Ser2184=) http://identifiers.org/clinvar/261523 ^@ NM_022068.3(PIEZO2):c.6261C>T (p.Phe2087=) http://identifiers.org/clinvar/261522 ^@ NM_022068.3(PIEZO2):c.6191G>C (p.Arg2064Thr) http://identifiers.org/clinvar/261521 ^@ NM_022068.3(PIEZO2):c.6149C>A (p.Ala2050Asp) http://identifiers.org/clinvar/261520 ^@ NM_022068.3(PIEZO2):c.5814C>T (p.Ala1938=) http://identifiers.org/clinvar/261519 ^@ NM_022068.3(PIEZO2):c.5692G>C (p.Glu1898Gln) http://identifiers.org/clinvar/261518 ^@ NM_022068.3(PIEZO2):c.5673C>T (p.Asp1891=) http://identifiers.org/clinvar/261517 ^@ NM_022068.3(PIEZO2):c.5538C>T (p.Asp1846=) http://identifiers.org/clinvar/261516 ^@ NM_022068.3(PIEZO2):c.5259G>T (p.Thr1753=) http://identifiers.org/clinvar/261515 ^@ NM_022068.3(PIEZO2):c.5259G>A (p.Thr1753=) http://identifiers.org/clinvar/261514 ^@ NM_022068.3(PIEZO2):c.5250C>T (p.Ser1750=) http://identifiers.org/clinvar/261513 ^@ NM_022068.3(PIEZO2):c.4856-15G>T http://identifiers.org/clinvar/261512 ^@ NM_022068.3(PIEZO2):c.4855+15G>C http://identifiers.org/clinvar/261511 ^@ NM_022068.3(PIEZO2):c.4832G>A (p.Arg1611Gln) http://identifiers.org/clinvar/261510 ^@ NM_022068.3(PIEZO2):c.4633+18C>T http://identifiers.org/clinvar/261509 ^@ NM_022068.3(PIEZO2):c.4215T>A (p.Leu1405=) http://identifiers.org/clinvar/261508 ^@ NM_022068.3(PIEZO2):c.4060G>A (p.Val1354Ile) http://identifiers.org/clinvar/261507 ^@ NM_022068.3(PIEZO2):c.3792C>T (p.Asn1264=) http://identifiers.org/clinvar/261506 ^@ NM_022068.3(PIEZO2):c.3443G>T (p.Cys1148Phe) http://identifiers.org/clinvar/261505 ^@ NM_022068.3(PIEZO2):c.3006C>T (p.Leu1002=) http://identifiers.org/clinvar/261504 ^@ NM_022068.3(PIEZO2):c.2961A>G (p.Thr987=) http://identifiers.org/clinvar/261503 ^@ NM_022068.3(PIEZO2):c.2305C>T (p.Leu769=) http://identifiers.org/clinvar/261502 ^@ NM_022068.3(PIEZO2):c.2226T>C (p.Ile742=) http://identifiers.org/clinvar/261501 ^@ NM_022068.3(PIEZO2):c.1758+17C>T http://identifiers.org/clinvar/261500 ^@ NM_022068.3(PIEZO2):c.1698T>C (p.Pro566=) http://identifiers.org/clinvar/261498 ^@ NM_022068.3(PIEZO2):c.1527+10A>C http://identifiers.org/clinvar/261497 ^@ NM_022068.3(PIEZO2):c.1239+13T>A http://identifiers.org/clinvar/261496 ^@ NM_022068.3(PIEZO2):c.1201-19C>G http://identifiers.org/clinvar/261495 ^@ NM_022068.3(PIEZO2):c.1023G>A (p.Leu341=) http://identifiers.org/clinvar/261529 ^@ NM_022068.3(PIEZO2):c.717G>A (p.Pro239=) http://identifiers.org/clinvar/261499 ^@ NM_022068.3(PIEZO2):c.164A>C (p.His55Pro) http://identifiers.org/clinvar/255700 ^@ NM_000271.4(NPC1):c.3754+34A>G http://identifiers.org/clinvar/255699 ^@ NM_000271.4(NPC1):c.3592-42G>C http://identifiers.org/clinvar/255698 ^@ NM_000271.4(NPC1):c.3561G>A (p.Ala1187=) http://identifiers.org/clinvar/255697 ^@ NM_000271.4(NPC1):c.3477+15A>G http://identifiers.org/clinvar/255696 ^@ NM_000271.4(NPC1):c.3217G>A (p.Gly1073Ser) http://identifiers.org/clinvar/255695 ^@ NM_000271.4(NPC1):c.2911+28T>C http://identifiers.org/clinvar/255694 ^@ NM_000271.4(NPC1):c.2397C>T (p.Cys799=) http://identifiers.org/clinvar/255693 ^@ NM_000271.4(NPC1):c.2100C>T (p.Asp700=) http://identifiers.org/clinvar/255692 ^@ NM_000271.4(NPC1):c.1947+13_1947+14insT http://identifiers.org/clinvar/255691 ^@ NM_000271.4(NPC1):c.1170G>A (p.Leu390=) http://identifiers.org/clinvar/255690 ^@ NM_000271.4(NPC1):c.1088C>T (p.Ala363Val) http://identifiers.org/clinvar/255703 ^@ NM_000271.4(NPC1):c.956-11C>T http://identifiers.org/clinvar/255702 ^@ NM_000271.4(NPC1):c.881+37C>G http://identifiers.org/clinvar/255701 ^@ NM_000271.4(NPC1):c.66A>G (p.Ser22=) http://identifiers.org/clinvar/255689 ^@ NM_000271.4(NPC1):c.-22A>C http://identifiers.org/clinvar/255574 ^@ NM_000227.4(LAMA3):c.150T>C (p.Tyr50=) http://identifiers.org/clinvar/255581 ^@ NM_000227.4(LAMA3):c.495C>T (p.Phe165=) http://identifiers.org/clinvar/255573 ^@ NM_000227.4(LAMA3):c.1320C>G (p.Ala440=) http://identifiers.org/clinvar/255575 ^@ NM_000227.4(LAMA3):c.3618C>A (p.Asn1206Lys) http://identifiers.org/clinvar/255576 ^@ NM_000227.4(LAMA3):c.3673G= (p.Gly1225=) http://identifiers.org/clinvar/255577 ^@ NM_000227.4(LAMA3):c.3749+7G>C http://identifiers.org/clinvar/255578 ^@ NM_000227.4(LAMA3):c.3904C>T (p.Leu1302=) http://identifiers.org/clinvar/255579 ^@ NM_000227.4(LAMA3):c.4384-21C>T http://identifiers.org/clinvar/255580 ^@ NM_000227.4(LAMA3):c.4525-7G>A http://identifiers.org/clinvar/260632 ^@ NM_015295.2(SMCHD1):c.174G>C (p.Ala58=) http://identifiers.org/clinvar/260642 ^@ NM_015295.2(SMCHD1):c.288C>T (p.Thr96=) http://identifiers.org/clinvar/260646 ^@ NM_015295.2(SMCHD1):c.399T>C (p.Tyr133=) http://identifiers.org/clinvar/260649 ^@ NM_015295.2(SMCHD1):c.424+10C>T http://identifiers.org/clinvar/260629 ^@ NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) http://identifiers.org/clinvar/260630 ^@ NM_015295.2(SMCHD1):c.1608A>G (p.Lys536=) http://identifiers.org/clinvar/260631 ^@ NM_015295.2(SMCHD1):c.1689G>A (p.Leu563=) http://identifiers.org/clinvar/260633 ^@ NM_015295.2(SMCHD1):c.1851A>G (p.Thr617=) http://identifiers.org/clinvar/260634 ^@ NM_015295.2(SMCHD1):c.1956+7C>T http://identifiers.org/clinvar/260635 ^@ NM_015295.2(SMCHD1):c.1957-3C>T http://identifiers.org/clinvar/260636 ^@ NM_015295.2(SMCHD1):c.2063+20G>T http://identifiers.org/clinvar/260637 ^@ NM_015295.2(SMCHD1):c.2122G>A (p.Val708Ile) http://identifiers.org/clinvar/260638 ^@ NM_015295.2(SMCHD1):c.2147-7C>T http://identifiers.org/clinvar/260639 ^@ NM_015295.2(SMCHD1):c.2604-7delT http://identifiers.org/clinvar/260640 ^@ NM_015295.2(SMCHD1):c.2637A>T (p.Lys879Asn) http://identifiers.org/clinvar/260641 ^@ NM_015295.2(SMCHD1):c.2878A>G (p.Ile960Val) http://identifiers.org/clinvar/260643 ^@ NM_015295.2(SMCHD1):c.3528A>G (p.Thr1176=) http://identifiers.org/clinvar/260644 ^@ NM_015295.2(SMCHD1):c.3612A>T (p.Ser1204=) http://identifiers.org/clinvar/260645 ^@ NM_015295.2(SMCHD1):c.3802-16T>G http://identifiers.org/clinvar/260647 ^@ NM_015295.2(SMCHD1):c.4104C>T (p.Pro1368=) http://identifiers.org/clinvar/260648 ^@ NM_015295.2(SMCHD1):c.4137A>G (p.Ala1379=) http://identifiers.org/clinvar/260650 ^@ NM_015295.2(SMCHD1):c.4629C>T (p.Gly1543=) http://identifiers.org/clinvar/260651 ^@ NM_015295.2(SMCHD1):c.4695C>T (p.Phe1565=) http://identifiers.org/clinvar/260652 ^@ NM_015295.2(SMCHD1):c.4967-15G>T http://identifiers.org/clinvar/260653 ^@ NM_015295.2(SMCHD1):c.5126C>T (p.Ser1709Leu) http://identifiers.org/clinvar/260654 ^@ NM_015295.2(SMCHD1):c.5476+10A>G http://identifiers.org/clinvar/260656 ^@ NM_015295.2(SMCHD1):c.5878+8T>G http://identifiers.org/clinvar/260655 ^@ NM_015295.2(SMCHD1):c.5878+12C>G http://identifiers.org/clinvar/260433 ^@ NM_014646.2(LPIN2):c.*3C>T http://identifiers.org/clinvar/261707 ^@ NM_024422.4(DSC2):c.2251-49T>C http://identifiers.org/clinvar/261706 ^@ NM_024422.4(DSC2):c.1269G>A (p.Leu423=) http://identifiers.org/clinvar/258495 ^@ NM_001943.4(DSG2):c.828+16C>A http://identifiers.org/clinvar/258493 ^@ NM_001943.4(DSG2):c.1014+27G>A http://identifiers.org/clinvar/258494 ^@ NM_001943.4(DSG2):c.1479C>T (p.Asn493=) http://identifiers.org/clinvar/259013 ^@ NM_003244.3(TGIF1):c.-33C>A http://identifiers.org/clinvar/259014 ^@ NM_003244.3(TGIF1):c.123C>T (p.Asn41=) http://identifiers.org/clinvar/259015 ^@ NM_003244.3(TGIF1):c.420A>G (p.Pro140=) http://identifiers.org/clinvar/259016 ^@ NM_003244.3(TGIF1):c.487C>T (p.Pro163Ser) http://identifiers.org/clinvar/259017 ^@ NM_003244.3(TGIF1):c.488C>T (p.Pro163Leu) http://identifiers.org/clinvar/259018 ^@ NM_003244.3(TGIF1):c.576C>T (p.Val192=) http://identifiers.org/clinvar/259019 ^@ NM_003244.3(TGIF1):c.657T>G (p.Thr219=) http://identifiers.org/clinvar/257519 ^@ NM_001198942.1(DTNA):c.192G>A (p.Leu64=) http://identifiers.org/clinvar/262524 ^@ NM_144612.6(LOXHD1):c.5997-11delG http://identifiers.org/clinvar/262523 ^@ NM_144612.6(LOXHD1):c.5028C>T (p.Gly1676=) http://identifiers.org/clinvar/262522 ^@ NM_144612.6(LOXHD1):c.4611C>T (p.Cys1537=) http://identifiers.org/clinvar/262521 ^@ NM_144612.6(LOXHD1):c.4531-19C>T http://identifiers.org/clinvar/262520 ^@ NM_144612.6(LOXHD1):c.4089C>T (p.Ile1363=) http://identifiers.org/clinvar/262519 ^@ NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) http://identifiers.org/clinvar/262518 ^@ NM_144612.6(LOXHD1):c.2841C>T (p.Asp947=) http://identifiers.org/clinvar/262525 ^@ NM_144612.6(LOXHD1):c.759+11C>T http://identifiers.org/clinvar/262562 ^@ NM_145020.4(CFAP53):c.945A>G (p.Gln315=) http://identifiers.org/clinvar/262561 ^@ NM_145020.4(CFAP53):c.939C>T (p.Leu313=) http://identifiers.org/clinvar/262560 ^@ NM_145020.4(CFAP53):c.880G>A (p.Glu294Lys) http://identifiers.org/clinvar/262559 ^@ NM_145020.4(CFAP53):c.798T>A (p.Ile266=) http://identifiers.org/clinvar/262558 ^@ NM_145020.4(CFAP53):c.789C>T (p.Asn263=) http://identifiers.org/clinvar/262557 ^@ NM_145020.4(CFAP53):c.778-12A>T http://identifiers.org/clinvar/262556 ^@ NM_145020.4(CFAP53):c.691C>T (p.Arg231Cys) http://identifiers.org/clinvar/262555 ^@ NM_145020.4(CFAP53):c.615G>C (p.Trp205Cys) http://identifiers.org/clinvar/262553 ^@ NM_145020.4(CFAP53):c.474-18T>C http://identifiers.org/clinvar/262552 ^@ NM_145020.4(CFAP53):c.433A>C (p.Arg145=) http://identifiers.org/clinvar/262551 ^@ NM_145020.4(CFAP53):c.305G>A (p.Arg102His) http://identifiers.org/clinvar/262550 ^@ NM_145020.4(CFAP53):c.115A>C (p.Arg39=) http://identifiers.org/clinvar/262554 ^@ NM_145020.4(CFAP53):c.57A>G (p.Lys19=) http://identifiers.org/clinvar/259750 ^@ NM_005359.5(SMAD4):c.455-43A>T http://identifiers.org/clinvar/255312 ^@ NM_000140.3(FECH):c.921A>G (p.Pro307=) http://identifiers.org/clinvar/255311 ^@ NM_000140.3(FECH):c.798C>G (p.Pro266=) http://identifiers.org/clinvar/255310 ^@ NM_000140.3(FECH):c.-252A>G http://identifiers.org/clinvar/259814 ^@ NM_005603.4(ATP8B1):c.*11C>T http://identifiers.org/clinvar/259825 ^@ NM_005603.4(ATP8B1):c.3744C>A (p.Thr1248=) http://identifiers.org/clinvar/259824 ^@ NM_005603.4(ATP8B1):c.3699G>A (p.Pro1233=) http://identifiers.org/clinvar/259823 ^@ NM_005603.4(ATP8B1):c.3532-15C>T http://identifiers.org/clinvar/259822 ^@ NM_005603.4(ATP8B1):c.3531+8G>T http://identifiers.org/clinvar/259821 ^@ NM_005603.4(ATP8B1):c.3477C>T (p.Pro1159=) http://identifiers.org/clinvar/259820 ^@ NM_005603.4(ATP8B1):c.2855G>A (p.Arg952Gln) http://identifiers.org/clinvar/259819 ^@ NM_005603.4(ATP8B1):c.2789G>A (p.Arg930Gln) http://identifiers.org/clinvar/259817 ^@ NM_005603.4(ATP8B1):c.2021T>C (p.Met674Thr) http://identifiers.org/clinvar/259816 ^@ NM_005603.4(ATP8B1):c.1729A>G (p.Ile577Val) http://identifiers.org/clinvar/259815 ^@ NM_005603.4(ATP8B1):c.1177A>G (p.Ile393Val) http://identifiers.org/clinvar/259828 ^@ NM_005603.4(ATP8B1):c.811A>C (p.Arg271=) http://identifiers.org/clinvar/259827 ^@ NM_005603.4(ATP8B1):c.698+20C>T http://identifiers.org/clinvar/259826 ^@ NM_005603.4(ATP8B1):c.696T>C (p.Asp232=) http://identifiers.org/clinvar/259818 ^@ NM_005603.4(ATP8B1):c.234C>G (p.His78Gln) http://identifiers.org/clinvar/260310 ^@ NM_013435.2(RAX):c.882A>G (p.Gln294=) http://identifiers.org/clinvar/260309 ^@ NM_013435.2(RAX):c.132C>A (p.Asp44Glu) http://identifiers.org/clinvar/259794 ^@ NM_005570.3(LMAN1):c.1461G>A (p.Val487=) http://identifiers.org/clinvar/259793 ^@ NM_005570.3(LMAN1):c.1374+20C>T http://identifiers.org/clinvar/259792 ^@ NM_005570.3(LMAN1):c.1228A>T (p.Met410Leu) http://identifiers.org/clinvar/259797 ^@ NM_005570.3(LMAN1):c.539+11_539+12delGT http://identifiers.org/clinvar/259796 ^@ NM_005570.3(LMAN1):c.399G>A (p.Leu133=) http://identifiers.org/clinvar/259795 ^@ NM_005570.3(LMAN1):c.351A>G (p.Arg117=) http://identifiers.org/clinvar/259791 ^@ NM_005570.3(LMAN1):c.116T>C (p.Val39Ala) http://identifiers.org/clinvar/262349 ^@ NM_133459.3(CCBE1):c.*14C>T http://identifiers.org/clinvar/262357 ^@ NM_133459.3(CCBE1):c.988-10A>G http://identifiers.org/clinvar/262356 ^@ NM_133459.3(CCBE1):c.837C>T (p.Pro279=) http://identifiers.org/clinvar/262355 ^@ NM_133459.3(CCBE1):c.775+12A>G http://identifiers.org/clinvar/262354 ^@ NM_133459.3(CCBE1):c.499C>T (p.Arg167Trp) http://identifiers.org/clinvar/262353 ^@ NM_133459.3(CCBE1):c.401-29T>C http://identifiers.org/clinvar/262352 ^@ NM_133459.3(CCBE1):c.266-30T>C http://identifiers.org/clinvar/262351 ^@ NM_133459.3(CCBE1):c.265+28G>C http://identifiers.org/clinvar/262350 ^@ NM_133459.3(CCBE1):c.265+26C>A http://identifiers.org/clinvar/259890 ^@ NM_005912.2(MC4R):c.594C>T (p.Ile198=) http://identifiers.org/clinvar/259177 ^@ NM_003839.3(TNFRSF11A):c.-39G>A http://identifiers.org/clinvar/259181 ^@ NM_003839.3(TNFRSF11A):c.522-39T>A http://identifiers.org/clinvar/259180 ^@ NM_003839.3(TNFRSF11A):c.522-17C>T http://identifiers.org/clinvar/259182 ^@ NM_003839.3(TNFRSF11A):c.575C>T (p.Ala192Val) http://identifiers.org/clinvar/259183 ^@ NM_003839.3(TNFRSF11A):c.933A>G (p.Thr311=) http://identifiers.org/clinvar/259179 ^@ NM_003839.3(TNFRSF11A):c.1568-43C>T http://identifiers.org/clinvar/259178 ^@ NM_003839.3(TNFRSF11A):c.1568-42G>T http://identifiers.org/clinvar/259524 ^@ NM_004715.4(CTDP1):c.863+398C>T http://identifiers.org/clinvar/259522 ^@ NM_004715.4(CTDP1):c.1019C>T (p.Thr340Met) http://identifiers.org/clinvar/259523 ^@ NM_004715.4(CTDP1):c.2069-20C>T http://identifiers.org/clinvar/257541 ^@ NM_001130823.2(DNMT1):c.3939C>T (p.Gly1313=) http://identifiers.org/clinvar/257540 ^@ NM_001130823.2(DNMT1):c.3117-8G>A http://identifiers.org/clinvar/257538 ^@ NM_001130823.2(DNMT1):c.1832+14A>G http://identifiers.org/clinvar/257537 ^@ NM_001130823.2(DNMT1):c.1782A>G (p.Thr594=) http://identifiers.org/clinvar/257536 ^@ NM_001130823.2(DNMT1):c.1389A>G (p.Pro463=) http://identifiers.org/clinvar/257544 ^@ NM_001130823.2(DNMT1):c.768+18C>A http://identifiers.org/clinvar/257543 ^@ NM_001130823.2(DNMT1):c.768+12T>A http://identifiers.org/clinvar/257542 ^@ NM_001130823.2(DNMT1):c.493+8C>T http://identifiers.org/clinvar/257539 ^@ NM_001130823.2(DNMT1):c.290A>G (p.His97Arg) http://identifiers.org/clinvar/259044 ^@ NM_003331.4(TYK2):c.3201-8C>T http://identifiers.org/clinvar/259043 ^@ NM_003331.4(TYK2):c.2051T>G (p.Ile684Ser) http://identifiers.org/clinvar/259042 ^@ NM_003331.4(TYK2):c.1953C>T (p.Ile651=) http://identifiers.org/clinvar/259041 ^@ NM_003331.4(TYK2):c.1669+7T>C http://identifiers.org/clinvar/259040 ^@ NM_003331.4(TYK2):c.1084G>T (p.Val362Phe) http://identifiers.org/clinvar/259045 ^@ NM_003331.4(TYK2):c.588C>A (p.Leu196=) http://identifiers.org/clinvar/256866 ^@ NM_001005360.2(DNM2):c.236-29C>G http://identifiers.org/clinvar/256867 ^@ NM_001005360.2(DNM2):c.236-8C>G http://identifiers.org/clinvar/256869 ^@ NM_001005360.2(DNM2):c.519T>C (p.Ala173=) http://identifiers.org/clinvar/256870 ^@ NM_001005360.2(DNM2):c.882G>A (p.Pro294=) http://identifiers.org/clinvar/256863 ^@ NM_001005360.2(DNM2):c.1129-40C>T http://identifiers.org/clinvar/256864 ^@ NM_001005360.2(DNM2):c.1545+14C>G http://identifiers.org/clinvar/256865 ^@ NM_001005360.2(DNM2):c.1545+41C>T http://identifiers.org/clinvar/256868 ^@ NM_001005360.2(DNM2):c.2391C>T (p.Pro797=) http://identifiers.org/clinvar/257530 ^@ NM_001128849.1(SMARCA4):c.1944-19G>T http://identifiers.org/clinvar/256367 ^@ NM_000527.4(LDLR):c.324G>T (p.Thr108=) http://identifiers.org/clinvar/256365 ^@ NM_000527.4(LDLR):c.1167G>A (p.Thr389=) http://identifiers.org/clinvar/256366 ^@ NM_000527.4(LDLR):c.1359-13C>T http://identifiers.org/clinvar/261358 ^@ NM_020812.3(DOCK6):c.5361+4C>T http://identifiers.org/clinvar/261357 ^@ NM_020812.3(DOCK6):c.4548G>A (p.Thr1516=) http://identifiers.org/clinvar/261359 ^@ NM_020812.3(DOCK6):c.749C>T (p.Pro250Leu) http://identifiers.org/clinvar/261356 ^@ NM_020812.3(DOCK6):c.377+12T>A http://identifiers.org/clinvar/258794 ^@ NM_002743.3(PRKCSH):c.350+10T>C http://identifiers.org/clinvar/258795 ^@ NM_002743.3(PRKCSH):c.405C>T (p.Arg135=) http://identifiers.org/clinvar/258796 ^@ NM_002743.3(PRKCSH):c.549T>C (p.Ala183=) http://identifiers.org/clinvar/258791 ^@ NM_002743.3(PRKCSH):c.1265+14A>G http://identifiers.org/clinvar/258792 ^@ NM_002743.3(PRKCSH):c.1338T>C (p.Leu446=) http://identifiers.org/clinvar/258793 ^@ NM_002743.3(PRKCSH):c.1357A>G (p.Ile453Val) http://identifiers.org/clinvar/257479 ^@ NM_001111035.2(ACP5):c.598G>A (p.Val200Met) http://identifiers.org/clinvar/257478 ^@ NM_001111035.2(ACP5):c.442G>A (p.Val148Met) http://identifiers.org/clinvar/257477 ^@ NM_001111035.2(ACP5):c.225C>T (p.Phe75=) http://identifiers.org/clinvar/256203 ^@ NM_000455.4(STK11):c.290+36G>T http://identifiers.org/clinvar/256204 ^@ NM_000455.4(STK11):c.374+24G>T http://identifiers.org/clinvar/256205 ^@ NM_000455.4(STK11):c.375-49G>A http://identifiers.org/clinvar/256206 ^@ NM_000455.4(STK11):c.464+40_464+46dupGGGGGCC http://identifiers.org/clinvar/256207 ^@ NM_000455.4(STK11):c.726G>T (p.Gly242=) http://identifiers.org/clinvar/256208 ^@ NM_000455.4(STK11):c.920+32G>A http://identifiers.org/clinvar/259971 ^@ NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) http://identifiers.org/clinvar/259972 ^@ NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) http://identifiers.org/clinvar/259973 ^@ NM_006397.2(RNASEH2A):c.550-11T>C http://identifiers.org/clinvar/259974 ^@ NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) http://identifiers.org/clinvar/260001 ^@ NM_006563.4(KLF1):c.304T>C (p.Ser102Pro) http://identifiers.org/clinvar/255394 ^@ NM_000159.3(GCDH):c.127+48T>C http://identifiers.org/clinvar/255396 ^@ NM_000159.3(GCDH):c.505+32G>A http://identifiers.org/clinvar/255395 ^@ NM_000159.3(GCDH):c.1299G>A (p.Ala433=) http://identifiers.org/clinvar/257513 ^@ NM_001127222.1(CACNA1A):c.7431C>T (p.Tyr2477=) http://identifiers.org/clinvar/257512 ^@ NM_001127222.1(CACNA1A):c.6837G>A (p.Pro2279=) http://identifiers.org/clinvar/257511 ^@ NM_001127222.1(CACNA1A):c.5401-14C>T http://identifiers.org/clinvar/257510 ^@ NM_001127222.1(CACNA1A):c.2173-12C>T http://identifiers.org/clinvar/257509 ^@ NM_001127222.1(CACNA1A):c.1914-4G>A http://identifiers.org/clinvar/257508 ^@ NM_001127222.1(CACNA1A):c.1518T>C (p.Val506=) http://identifiers.org/clinvar/257507 ^@ NM_001127222.1(CACNA1A):c.1345+7C>T http://identifiers.org/clinvar/256154 ^@ NM_000435.2(NOTCH3):c.6813T>C (p.Pro2271=) http://identifiers.org/clinvar/256153 ^@ NM_000435.2(NOTCH3):c.6753C>T (p.Ser2251=) http://identifiers.org/clinvar/256152 ^@ NM_000435.2(NOTCH3):c.6668C>T (p.Ala2223Val) http://identifiers.org/clinvar/256151 ^@ NM_000435.2(NOTCH3):c.6438G>A (p.Ala2146=) http://identifiers.org/clinvar/256150 ^@ NM_000435.2(NOTCH3):c.6221C>T (p.Pro2074Leu) http://identifiers.org/clinvar/256149 ^@ NM_000435.2(NOTCH3):c.6102C>T (p.Pro2034=) http://identifiers.org/clinvar/256147 ^@ NM_000435.2(NOTCH3):c.6031G>A (p.Val2011Ile) http://identifiers.org/clinvar/256146 ^@ NM_000435.2(NOTCH3):c.5854G>A (p.Val1952Met) http://identifiers.org/clinvar/256145 ^@ NM_000435.2(NOTCH3):c.5816-8T>C http://identifiers.org/clinvar/256144 ^@ NM_000435.2(NOTCH3):c.5526T>C (p.Ala1842=) http://identifiers.org/clinvar/256143 ^@ NM_000435.2(NOTCH3):c.5400G>T (p.Gly1800=) http://identifiers.org/clinvar/256142 ^@ NM_000435.2(NOTCH3):c.5370C>T (p.Phe1790=) http://identifiers.org/clinvar/256141 ^@ NM_000435.2(NOTCH3):c.5363-17C>T http://identifiers.org/clinvar/256140 ^@ NM_000435.2(NOTCH3):c.5362+3T>C http://identifiers.org/clinvar/256139 ^@ NM_000435.2(NOTCH3):c.4679G>C (p.Arg1560Pro) http://identifiers.org/clinvar/256138 ^@ NM_000435.2(NOTCH3):c.4563A>G (p.Pro1521=) http://identifiers.org/clinvar/256137 ^@ NM_000435.2(NOTCH3):c.4552C>A (p.Leu1518Met) http://identifiers.org/clinvar/256136 ^@ NM_000435.2(NOTCH3):c.4191G>T (p.Gly1397=) http://identifiers.org/clinvar/256135 ^@ NM_000435.2(NOTCH3):c.4044C>T (p.Gly1348=) http://identifiers.org/clinvar/256134 ^@ NM_000435.2(NOTCH3):c.3639C>T (p.Ala1213=) http://identifiers.org/clinvar/256133 ^@ NM_000435.2(NOTCH3):c.3547G>A (p.Val1183Met) http://identifiers.org/clinvar/256132 ^@ NM_000435.2(NOTCH3):c.3399C>A (p.His1133Gln) http://identifiers.org/clinvar/256130 ^@ NM_000435.2(NOTCH3):c.2742A>G (p.Pro914=) http://identifiers.org/clinvar/256129 ^@ NM_000435.2(NOTCH3):c.2538C>T (p.Cys846=) http://identifiers.org/clinvar/256128 ^@ NM_000435.2(NOTCH3):c.2411-4C>G http://identifiers.org/clinvar/256127 ^@ NM_000435.2(NOTCH3):c.2300G>A (p.Arg767His) http://identifiers.org/clinvar/256126 ^@ NM_000435.2(NOTCH3):c.2202C>T (p.Ala734=) http://identifiers.org/clinvar/256125 ^@ NM_000435.2(NOTCH3):c.2039G>A (p.Arg680His) http://identifiers.org/clinvar/256124 ^@ NM_000435.2(NOTCH3):c.1840+19G>A http://identifiers.org/clinvar/256123 ^@ NM_000435.2(NOTCH3):c.1782C>T (p.Gly594=) http://identifiers.org/clinvar/256122 ^@ NM_000435.2(NOTCH3):c.1725G>A (p.Thr575=) http://identifiers.org/clinvar/256121 ^@ NM_000435.2(NOTCH3):c.1490C>T (p.Ser497Leu) http://identifiers.org/clinvar/256120 ^@ NM_000435.2(NOTCH3):c.1487C>T (p.Pro496Leu) http://identifiers.org/clinvar/256118 ^@ NM_000435.2(NOTCH3):c.1192+15A>G http://identifiers.org/clinvar/256117 ^@ NM_000435.2(NOTCH3):c.1140T>C (p.Pro380=) http://identifiers.org/clinvar/256148 ^@ NM_000435.2(NOTCH3):c.606A>G (p.Ala202=) http://identifiers.org/clinvar/256131 ^@ NM_000435.2(NOTCH3):c.303C>T (p.Thr101=) http://identifiers.org/clinvar/256119 ^@ NM_000435.2(NOTCH3):c.120C>G (p.Ala40=) http://identifiers.org/clinvar/262835 ^@ NM_173483.3(CYP4F22):c.582G>A (p.Ala194=) http://identifiers.org/clinvar/256200 ^@ NM_000453.2(SLC5A5):c.839+11C>T http://identifiers.org/clinvar/256195 ^@ NM_000453.2(SLC5A5):c.1326A>C (p.Thr442=) http://identifiers.org/clinvar/256196 ^@ NM_000453.2(SLC5A5):c.1329+18A>G http://identifiers.org/clinvar/256198 ^@ NM_000453.2(SLC5A5):c.1330-18C>G http://identifiers.org/clinvar/256197 ^@ NM_000453.2(SLC5A5):c.1330-15C>T http://identifiers.org/clinvar/256199 ^@ NM_000453.2(SLC5A5):c.1652-9G>A http://identifiers.org/clinvar/255117 ^@ NM_000095.2(COMP):c.*1G>C http://identifiers.org/clinvar/255124 ^@ NM_000095.2(COMP):c.2267A>G (p.Gln756Arg) http://identifiers.org/clinvar/255123 ^@ NM_000095.2(COMP):c.2228-40T>C http://identifiers.org/clinvar/255121 ^@ NM_000095.2(COMP):c.1915-45C>T http://identifiers.org/clinvar/255120 ^@ NM_000095.2(COMP):c.1755G>T (p.Thr585=) http://identifiers.org/clinvar/255119 ^@ NM_000095.2(COMP):c.1755G>A (p.Thr585=) http://identifiers.org/clinvar/255125 ^@ NM_000095.2(COMP):c.762+12C>A http://identifiers.org/clinvar/255122 ^@ NM_000095.2(COMP):c.218-14C>T http://identifiers.org/clinvar/255118 ^@ NM_000095.2(COMP):c.165+41G>C http://identifiers.org/clinvar/258161 ^@ NM_001492.5(GDF1):c.388G>A (p.Val130Ile) http://identifiers.org/clinvar/258160 ^@ NM_001492.5(GDF1):c.353C>T (p.Ala118Val) http://identifiers.org/clinvar/258162 ^@ NM_001492.5(GDF1):c.55C>G (p.Leu19Val) http://identifiers.org/clinvar/258159 ^@ NM_001492.5(GDF1):c.-11C>T http://identifiers.org/clinvar/258545 ^@ NM_002067.4(GNA11):c.189C>T (p.His63=) http://identifiers.org/clinvar/258546 ^@ NM_002067.4(GNA11):c.321+18T>G http://identifiers.org/clinvar/258547 ^@ NM_002067.4(GNA11):c.736-20T>G http://identifiers.org/clinvar/258548 ^@ NM_002067.4(GNA11):c.771C>T (p.Thr257=) http://identifiers.org/clinvar/258549 ^@ NM_002067.4(GNA11):c.889+8G>C http://identifiers.org/clinvar/259294 ^@ NM_004364.4(CEBPA):c.573C>T (p.His191=) http://identifiers.org/clinvar/255472 ^@ NM_000175.4(GPI):c.489A>G (p.Gly163=) http://identifiers.org/clinvar/257220 ^@ NM_001037.4(SCN1B):c.591-14C>A http://identifiers.org/clinvar/257219 ^@ NM_001037.4(SCN1B):c.*5+7C>T http://identifiers.org/clinvar/259501 ^@ NM_004646.3(NPHS1):c.3595-9G>T http://identifiers.org/clinvar/259499 ^@ NM_004646.3(NPHS1):c.3482-7A>T http://identifiers.org/clinvar/259498 ^@ NM_004646.3(NPHS1):c.3418C>A (p.Arg1140Ser) http://identifiers.org/clinvar/259497 ^@ NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) http://identifiers.org/clinvar/259496 ^@ NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) http://identifiers.org/clinvar/259495 ^@ NM_004646.3(NPHS1):c.3165A>T (p.Ser1055=) http://identifiers.org/clinvar/259494 ^@ NM_004646.3(NPHS1):c.3110-8C>T http://identifiers.org/clinvar/259493 ^@ NM_004646.3(NPHS1):c.2971G>C (p.Val991Leu) http://identifiers.org/clinvar/259491 ^@ NM_004646.3(NPHS1):c.2746G>T (p.Ala916Ser) http://identifiers.org/clinvar/259490 ^@ NM_004646.3(NPHS1):c.2622T>C (p.Thr874=) http://identifiers.org/clinvar/259489 ^@ NM_004646.3(NPHS1):c.2289C>T (p.Val763=) http://identifiers.org/clinvar/259488 ^@ NM_004646.3(NPHS1):c.2223C>T (p.Thr741=) http://identifiers.org/clinvar/259486 ^@ NM_004646.3(NPHS1):c.1930+12G>A http://identifiers.org/clinvar/259485 ^@ NM_004646.3(NPHS1):c.1930+10C>T http://identifiers.org/clinvar/259484 ^@ NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) http://identifiers.org/clinvar/259482 ^@ NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) http://identifiers.org/clinvar/259481 ^@ NM_004646.3(NPHS1):c.1175T>C (p.Leu392Pro) http://identifiers.org/clinvar/259480 ^@ NM_004646.3(NPHS1):c.1170+8G>A http://identifiers.org/clinvar/259508 ^@ NM_004646.3(NPHS1):c.881C>T (p.Thr294Ile) http://identifiers.org/clinvar/259507 ^@ NM_004646.3(NPHS1):c.840+7dupG http://identifiers.org/clinvar/259506 ^@ NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) http://identifiers.org/clinvar/259505 ^@ NM_004646.3(NPHS1):c.597G>A (p.Glu199=) http://identifiers.org/clinvar/259500 ^@ NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) http://identifiers.org/clinvar/259492 ^@ NM_004646.3(NPHS1):c.294C>T (p.Ile98=) http://identifiers.org/clinvar/259487 ^@ NM_004646.3(NPHS1):c.216C>A (p.Gly72=) http://identifiers.org/clinvar/259483 ^@ NM_004646.3(NPHS1):c.128T>C (p.Val43Ala) http://identifiers.org/clinvar/259504 ^@ NM_004646.3(NPHS1):c.59-5C>G http://identifiers.org/clinvar/259503 ^@ NM_004646.3(NPHS1):c.59-19C>A http://identifiers.org/clinvar/259502 ^@ NM_004646.3(NPHS1):c.43G>C (p.Gly15Arg) http://identifiers.org/clinvar/262317 ^@ NM_133261.2(GIPC3):c.57G>T (p.Ala19=) http://identifiers.org/clinvar/263265 ^@ NM_201636.2(TBXA2R):c.1052T>C (p.Leu351Pro) http://identifiers.org/clinvar/263264 ^@ NM_201636.2(TBXA2R):c.1026G>A (p.Thr342=) http://identifiers.org/clinvar/263269 ^@ NM_201636.2(TBXA2R):c.924T>C (p.Tyr308=) http://identifiers.org/clinvar/263268 ^@ NM_201636.2(TBXA2R):c.795C>T (p.Ile265=) http://identifiers.org/clinvar/263267 ^@ NM_201636.2(TBXA2R):c.435G>A (p.Ser145=) http://identifiers.org/clinvar/263266 ^@ NM_201636.2(TBXA2R):c.243C>T (p.Thr81=) http://identifiers.org/clinvar/262101 ^@ NM_032753.3(RAX2):c.432G>A (p.Ala144=) http://identifiers.org/clinvar/256385 ^@ NM_000540.2(RYR1):c.-37C>G http://identifiers.org/clinvar/256511 ^@ NM_000540.2(RYR1):c.45+32C>A http://identifiers.org/clinvar/256512 ^@ NM_000540.2(RYR1):c.46-4G>T http://identifiers.org/clinvar/256406 ^@ NM_000540.2(RYR1):c.114C>T (p.Ala38=) http://identifiers.org/clinvar/256458 ^@ NM_000540.2(RYR1):c.153T>C (p.Thr51=) http://identifiers.org/clinvar/256460 ^@ NM_000540.2(RYR1):c.165+38G>A http://identifiers.org/clinvar/256462 ^@ NM_000540.2(RYR1):c.166-45G>T http://identifiers.org/clinvar/256461 ^@ NM_000540.2(RYR1):c.166-44G>C http://identifiers.org/clinvar/256470 ^@ NM_000540.2(RYR1):c.216G>T (p.Leu72=) http://identifiers.org/clinvar/256474 ^@ NM_000540.2(RYR1):c.255G>T (p.Val85=) http://identifiers.org/clinvar/256504 ^@ NM_000540.2(RYR1):c.425-19A>G http://identifiers.org/clinvar/256531 ^@ NM_000540.2(RYR1):c.631+39dupC http://identifiers.org/clinvar/256532 ^@ NM_000540.2(RYR1):c.631+49C>T http://identifiers.org/clinvar/256533 ^@ NM_000540.2(RYR1):c.632-11C>T http://identifiers.org/clinvar/256550 ^@ NM_000540.2(RYR1):c.725+43G>A http://identifiers.org/clinvar/256586 ^@ NM_000540.2(RYR1):c.958-11delT http://identifiers.org/clinvar/256408 ^@ NM_000540.2(RYR1):c.1152C>T (p.Asp384=) http://identifiers.org/clinvar/256421 ^@ NM_000540.2(RYR1):c.1245-29C>T http://identifiers.org/clinvar/256445 ^@ NM_000540.2(RYR1):c.1440+8C>G http://identifiers.org/clinvar/256444 ^@ NM_000540.2(RYR1):c.1440+47G>A http://identifiers.org/clinvar/256447 ^@ NM_000540.2(RYR1):c.1441-32T>C http://identifiers.org/clinvar/256446 ^@ NM_000540.2(RYR1):c.1441-31A>G http://identifiers.org/clinvar/256457 ^@ NM_000540.2(RYR1):c.1533C>T (p.Ala511=) http://identifiers.org/clinvar/256459 ^@ NM_000540.2(RYR1):c.1576+6G>A http://identifiers.org/clinvar/256463 ^@ NM_000540.2(RYR1):c.1839A>G (p.Val613=) http://identifiers.org/clinvar/256464 ^@ NM_000540.2(RYR1):c.1866G>A (p.Glu622=) http://identifiers.org/clinvar/256465 ^@ NM_000540.2(RYR1):c.1923C>G (p.Thr641=) http://identifiers.org/clinvar/256466 ^@ NM_000540.2(RYR1):c.1925+35A>G http://identifiers.org/clinvar/256467 ^@ NM_000540.2(RYR1):c.1926-29C>G http://identifiers.org/clinvar/256468 ^@ NM_000540.2(RYR1):c.2004C>T (p.Asp668=) http://identifiers.org/clinvar/256469 ^@ NM_000540.2(RYR1):c.2168-30C>T http://identifiers.org/clinvar/256471 ^@ NM_000540.2(RYR1):c.2241G>A (p.Leu747=) http://identifiers.org/clinvar/256472 ^@ NM_000540.2(RYR1):c.2361-42A>G http://identifiers.org/clinvar/256473 ^@ NM_000540.2(RYR1):c.2415T>C (p.Pro805=) http://identifiers.org/clinvar/256475 ^@ NM_000540.2(RYR1):c.2577+25T>C http://identifiers.org/clinvar/256476 ^@ NM_000540.2(RYR1):c.2577+31G>C http://identifiers.org/clinvar/256478 ^@ NM_000540.2(RYR1):c.2578-50G>A http://identifiers.org/clinvar/256477 ^@ NM_000540.2(RYR1):c.2578-19A>G http://identifiers.org/clinvar/256479 ^@ NM_000540.2(RYR1):c.2622G>A (p.Ala874=) http://identifiers.org/clinvar/256480 ^@ NM_000540.2(RYR1):c.2634C>T (p.His878=) http://identifiers.org/clinvar/256481 ^@ NM_000540.2(RYR1):c.2679C>T (p.Gly893=) http://identifiers.org/clinvar/256483 ^@ NM_000540.2(RYR1):c.2682+7G>A http://identifiers.org/clinvar/256482 ^@ NM_000540.2(RYR1):c.2682+24G>A http://identifiers.org/clinvar/256484 ^@ NM_000540.2(RYR1):c.2683-46G>T http://identifiers.org/clinvar/256485 ^@ NM_000540.2(RYR1):c.2786+45G>A http://identifiers.org/clinvar/256486 ^@ NM_000540.2(RYR1):c.2787-41C>G http://identifiers.org/clinvar/256487 ^@ NM_000540.2(RYR1):c.2870+19G>A http://identifiers.org/clinvar/256488 ^@ NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) http://identifiers.org/clinvar/256489 ^@ NM_000540.2(RYR1):c.3144C>T (p.Tyr1048=) http://identifiers.org/clinvar/256490 ^@ NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) http://identifiers.org/clinvar/256491 ^@ NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) http://identifiers.org/clinvar/256492 ^@ NM_000540.2(RYR1):c.3382-36C>T http://identifiers.org/clinvar/256493 ^@ NM_000540.2(RYR1):c.3420C>T (p.Arg1140=) http://identifiers.org/clinvar/256494 ^@ NM_000540.2(RYR1):c.3505A>C (p.Met1169Leu) http://identifiers.org/clinvar/256495 ^@ NM_000540.2(RYR1):c.3567C>T (p.Pro1189=) http://identifiers.org/clinvar/256496 ^@ NM_000540.2(RYR1):c.3765+24C>T http://identifiers.org/clinvar/256497 ^@ NM_000540.2(RYR1):c.3766-34G>A http://identifiers.org/clinvar/256498 ^@ NM_000540.2(RYR1):c.3873C>T (p.Ser1291=) http://identifiers.org/clinvar/256499 ^@ NM_000540.2(RYR1):c.3966C>G (p.Ala1322=) http://identifiers.org/clinvar/256500 ^@ NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) http://identifiers.org/clinvar/256501 ^@ NM_000540.2(RYR1):c.4101G>A (p.Ala1367=) http://identifiers.org/clinvar/256502 ^@ NM_000540.2(RYR1):c.4160+34G>A http://identifiers.org/clinvar/256503 ^@ NM_000540.2(RYR1):c.4161-21C>T http://identifiers.org/clinvar/256505 ^@ NM_000540.2(RYR1):c.4269C>G (p.Pro1423=) http://identifiers.org/clinvar/256506 ^@ NM_000540.2(RYR1):c.4294-4C>T http://identifiers.org/clinvar/256507 ^@ NM_000540.2(RYR1):c.4454+27G>T http://identifiers.org/clinvar/256508 ^@ NM_000540.2(RYR1):c.4455-17delG http://identifiers.org/clinvar/256509 ^@ NM_000540.2(RYR1):c.4455-5T>C http://identifiers.org/clinvar/256510 ^@ NM_000540.2(RYR1):c.4488C>T (p.Gly1496=) http://identifiers.org/clinvar/256516 ^@ NM_000540.2(RYR1):c.4621-43C>T http://identifiers.org/clinvar/256515 ^@ NM_000540.2(RYR1):c.4621-36C>T http://identifiers.org/clinvar/256514 ^@ NM_000540.2(RYR1):c.4621-34C>T http://identifiers.org/clinvar/256513 ^@ NM_000540.2(RYR1):c.4621-12C>T http://identifiers.org/clinvar/256517 ^@ NM_000540.2(RYR1):c.4650C>T (p.Ala1550=) http://identifiers.org/clinvar/256518 ^@ NM_000540.2(RYR1):c.4758G>A (p.Pro1586=) http://identifiers.org/clinvar/256519 ^@ NM_000540.2(RYR1):c.4764G>A (p.Pro1588=) http://identifiers.org/clinvar/256520 ^@ NM_000540.2(RYR1):c.4776G>A (p.Pro1592=) http://identifiers.org/clinvar/256521 ^@ NM_000540.2(RYR1):c.4902C>G (p.Thr1634=) http://identifiers.org/clinvar/256522 ^@ NM_000540.2(RYR1):c.4934+45C>T http://identifiers.org/clinvar/256523 ^@ NM_000540.2(RYR1):c.4935-29T>C http://identifiers.org/clinvar/256524 ^@ NM_000540.2(RYR1):c.4971C>T (p.Asp1657=) http://identifiers.org/clinvar/256525 ^@ NM_000540.2(RYR1):c.5037C>G (p.Arg1679=) http://identifiers.org/clinvar/256526 ^@ NM_000540.2(RYR1):c.5046C>T (p.His1682=) http://identifiers.org/clinvar/256527 ^@ NM_000540.2(RYR1):c.5469G>A (p.Gly1823=) http://identifiers.org/clinvar/256528 ^@ NM_000540.2(RYR1):c.5565C>T (p.Gly1855=) http://identifiers.org/clinvar/256529 ^@ NM_000540.2(RYR1):c.5814+35C>G http://identifiers.org/clinvar/256530 ^@ NM_000540.2(RYR1):c.6127+3A>G http://identifiers.org/clinvar/256534 ^@ NM_000540.2(RYR1):c.6516C>G (p.Pro2172=) http://identifiers.org/clinvar/256535 ^@ NM_000540.2(RYR1):c.6548+43G>A http://identifiers.org/clinvar/256536 ^@ NM_000540.2(RYR1):c.6549-45C>T http://identifiers.org/clinvar/256537 ^@ NM_000540.2(RYR1):c.6612C>T (p.His2204=) http://identifiers.org/clinvar/256538 ^@ NM_000540.2(RYR1):c.6639C>T (p.Asn2213=) http://identifiers.org/clinvar/256539 ^@ NM_000540.2(RYR1):c.6664-32A>G http://identifiers.org/clinvar/256540 ^@ NM_000540.2(RYR1):c.6732G>A (p.Arg2244=) http://identifiers.org/clinvar/256542 ^@ NM_000540.2(RYR1):c.6797-50A>G http://identifiers.org/clinvar/256541 ^@ NM_000540.2(RYR1):c.6797-48G>A http://identifiers.org/clinvar/256543 ^@ NM_000540.2(RYR1):c.6797-9C>T http://identifiers.org/clinvar/256544 ^@ NM_000540.2(RYR1):c.6892-14C>T http://identifiers.org/clinvar/256545 ^@ NM_000540.2(RYR1):c.7020C>T (p.Phe2340=) http://identifiers.org/clinvar/256546 ^@ NM_000540.2(RYR1):c.7026C>T (p.Asn2342=) http://identifiers.org/clinvar/256547 ^@ NM_000540.2(RYR1):c.7028-22dupC http://identifiers.org/clinvar/256548 ^@ NM_000540.2(RYR1):c.7173G>A (p.Ala2391=) http://identifiers.org/clinvar/256549 ^@ NM_000540.2(RYR1):c.7215-14C>T http://identifiers.org/clinvar/256551 ^@ NM_000540.2(RYR1):c.7444+34T>G http://identifiers.org/clinvar/256552 ^@ NM_000540.2(RYR1):c.7524T>G (p.Arg2508=) http://identifiers.org/clinvar/256553 ^@ NM_000540.2(RYR1):c.7584C>G (p.Pro2528=) http://identifiers.org/clinvar/256554 ^@ NM_000540.2(RYR1):c.7615-7G>A http://identifiers.org/clinvar/256555 ^@ NM_000540.2(RYR1):c.7692G>A (p.Lys2564=) http://identifiers.org/clinvar/256556 ^@ NM_000540.2(RYR1):c.7835+27G>C http://identifiers.org/clinvar/256563 ^@ NM_000540.2(RYR1):c.7836-40C>T http://identifiers.org/clinvar/256562 ^@ NM_000540.2(RYR1):c.7836-29G>C http://identifiers.org/clinvar/256561 ^@ NM_000540.2(RYR1):c.7836-28dupA http://identifiers.org/clinvar/256560 ^@ NM_000540.2(RYR1):c.7836-25C>T http://identifiers.org/clinvar/256559 ^@ NM_000540.2(RYR1):c.7836-19C>T http://identifiers.org/clinvar/256558 ^@ NM_000540.2(RYR1):c.7836-17T>C http://identifiers.org/clinvar/256557 ^@ NM_000540.2(RYR1):c.7836-13C>G http://identifiers.org/clinvar/256564 ^@ NM_000540.2(RYR1):c.7860G>A (p.Gln2620=) http://identifiers.org/clinvar/256565 ^@ NM_000540.2(RYR1):c.7876C>T (p.Leu2626=) http://identifiers.org/clinvar/256566 ^@ NM_000540.2(RYR1):c.7890G>C (p.Val2630=) http://identifiers.org/clinvar/256567 ^@ NM_000540.2(RYR1):c.7926+10A>G http://identifiers.org/clinvar/256568 ^@ NM_000540.2(RYR1):c.7927-46G>A http://identifiers.org/clinvar/256569 ^@ NM_000540.2(RYR1):c.7938C>T (p.Asn2646=) http://identifiers.org/clinvar/256571 ^@ NM_000540.2(RYR1):c.8068-35C>T http://identifiers.org/clinvar/256570 ^@ NM_000540.2(RYR1):c.8068-29_8068-27delCCT http://identifiers.org/clinvar/256572 ^@ NM_000540.2(RYR1):c.8311-16T>C http://identifiers.org/clinvar/256573 ^@ NM_000540.2(RYR1):c.8313C>A (p.Ile2771=) http://identifiers.org/clinvar/256574 ^@ NM_000540.2(RYR1):c.8361C>T (p.Thr2787=) http://identifiers.org/clinvar/256575 ^@ NM_000540.2(RYR1):c.8616+43G>C http://identifiers.org/clinvar/256576 ^@ NM_000540.2(RYR1):c.8932+34dupC http://identifiers.org/clinvar/256577 ^@ NM_000540.2(RYR1):c.8932+41A>G http://identifiers.org/clinvar/256579 ^@ NM_000540.2(RYR1):c.8933-42C>T http://identifiers.org/clinvar/256578 ^@ NM_000540.2(RYR1):c.8933-20C>A http://identifiers.org/clinvar/256580 ^@ NM_000540.2(RYR1):c.9001-14C>A http://identifiers.org/clinvar/256581 ^@ NM_000540.2(RYR1):c.9123-25C>T http://identifiers.org/clinvar/256582 ^@ NM_000540.2(RYR1):c.9360C>T (p.Thr3120=) http://identifiers.org/clinvar/256583 ^@ NM_000540.2(RYR1):c.9472+30C>T http://identifiers.org/clinvar/256584 ^@ NM_000540.2(RYR1):c.9555-31C>T http://identifiers.org/clinvar/256585 ^@ NM_000540.2(RYR1):c.9555-9G>A http://identifiers.org/clinvar/256587 ^@ NM_000540.2(RYR1):c.9771C>T (p.Ala3257=) http://identifiers.org/clinvar/256588 ^@ NM_000540.2(RYR1):c.9789C>T (p.Tyr3263=) http://identifiers.org/clinvar/256589 ^@ NM_000540.2(RYR1):c.9861C>T (p.Arg3287=) http://identifiers.org/clinvar/256386 ^@ NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) http://identifiers.org/clinvar/256387 ^@ NM_000540.2(RYR1):c.10254C>T (p.Asn3418=) http://identifiers.org/clinvar/256388 ^@ NM_000540.2(RYR1):c.10259+17T>C http://identifiers.org/clinvar/256389 ^@ NM_000540.2(RYR1):c.10350C>T (p.Asn3450=) http://identifiers.org/clinvar/256390 ^@ NM_000540.2(RYR1):c.10441-49C>T http://identifiers.org/clinvar/256391 ^@ NM_000540.2(RYR1):c.10578G>A (p.Ala3526=) http://identifiers.org/clinvar/256392 ^@ NM_000540.2(RYR1):c.10687-34C>T http://identifiers.org/clinvar/256395 ^@ NM_000540.2(RYR1):c.10825-45G>A http://identifiers.org/clinvar/256394 ^@ NM_000540.2(RYR1):c.10825-13A>T http://identifiers.org/clinvar/256393 ^@ NM_000540.2(RYR1):c.10825-11C>A http://identifiers.org/clinvar/256396 ^@ NM_000540.2(RYR1):c.10938-17A>G http://identifiers.org/clinvar/256397 ^@ NM_000540.2(RYR1):c.10938-9C>T http://identifiers.org/clinvar/256398 ^@ NM_000540.2(RYR1):c.11193+38T>C http://identifiers.org/clinvar/256399 ^@ NM_000540.2(RYR1):c.11259+17G>A http://identifiers.org/clinvar/256400 ^@ NM_000540.2(RYR1):c.11259+36G>A http://identifiers.org/clinvar/256401 ^@ NM_000540.2(RYR1):c.11260-13C>T http://identifiers.org/clinvar/256402 ^@ NM_000540.2(RYR1):c.11359+23A>G http://identifiers.org/clinvar/256404 ^@ NM_000540.2(RYR1):c.11439+9G>A http://identifiers.org/clinvar/256403 ^@ NM_000540.2(RYR1):c.11439+21T>G http://identifiers.org/clinvar/256405 ^@ NM_000540.2(RYR1):c.11440-12C>T http://identifiers.org/clinvar/256407 ^@ NM_000540.2(RYR1):c.11517-41G>A http://identifiers.org/clinvar/256409 ^@ NM_000540.2(RYR1):c.11556C>T (p.Ala3852=) http://identifiers.org/clinvar/256411 ^@ NM_000540.2(RYR1):c.11609-17C>G http://identifiers.org/clinvar/256410 ^@ NM_000540.2(RYR1):c.11609-13C>T http://identifiers.org/clinvar/256412 ^@ NM_000540.2(RYR1):c.11778+13G>A http://identifiers.org/clinvar/256413 ^@ NM_000540.2(RYR1):c.11907+22G>A http://identifiers.org/clinvar/256414 ^@ NM_000540.2(RYR1):c.11907+50C>T http://identifiers.org/clinvar/256415 ^@ NM_000540.2(RYR1):c.11908-21dupA http://identifiers.org/clinvar/256416 ^@ NM_000540.2(RYR1):c.12012+18C>A http://identifiers.org/clinvar/256417 ^@ NM_000540.2(RYR1):c.12012+19T>C http://identifiers.org/clinvar/256418 ^@ NM_000540.2(RYR1):c.12095-37G>T http://identifiers.org/clinvar/256419 ^@ NM_000540.2(RYR1):c.12183C>T (p.Phe4061=) http://identifiers.org/clinvar/256420 ^@ NM_000540.2(RYR1):c.12282+17G>A http://identifiers.org/clinvar/256422 ^@ NM_000540.2(RYR1):c.12624+10C>T http://identifiers.org/clinvar/256423 ^@ NM_000540.2(RYR1):c.12672C>T (p.Gly4224=) http://identifiers.org/clinvar/256424 ^@ NM_000540.2(RYR1):c.12759C>T (p.Pro4253=) http://identifiers.org/clinvar/256425 ^@ NM_000540.2(RYR1):c.13188G>A (p.Pro4396=) http://identifiers.org/clinvar/256426 ^@ NM_000540.2(RYR1):c.13341G>A (p.Arg4447=) http://identifiers.org/clinvar/256427 ^@ NM_000540.2(RYR1):c.13437+15G>C http://identifiers.org/clinvar/256428 ^@ NM_000540.2(RYR1):c.13512C>T (p.Ala4504=) http://identifiers.org/clinvar/256429 ^@ NM_000540.2(RYR1):c.13518C>T (p.Ala4506=) http://identifiers.org/clinvar/256431 ^@ NM_000540.2(RYR1):c.13660-35G>A http://identifiers.org/clinvar/256430 ^@ NM_000540.2(RYR1):c.13660-10T>C http://identifiers.org/clinvar/256432 ^@ NM_000540.2(RYR1):c.13746+41A>G http://identifiers.org/clinvar/256433 ^@ NM_000540.2(RYR1):c.13847C>A (p.Ala4616Asp) http://identifiers.org/clinvar/256434 ^@ NM_000540.2(RYR1):c.13863G>A (p.Glu4621=) http://identifiers.org/clinvar/256435 ^@ NM_000540.2(RYR1):c.13998+35T>A http://identifiers.org/clinvar/256436 ^@ NM_000540.2(RYR1):c.13998+43G>A http://identifiers.org/clinvar/256437 ^@ NM_000540.2(RYR1):c.13999-41A>G http://identifiers.org/clinvar/256438 ^@ NM_000540.2(RYR1):c.14004C>T (p.Pro4668=) http://identifiers.org/clinvar/256439 ^@ NM_000540.2(RYR1):c.14058C>G (p.Gly4686=) http://identifiers.org/clinvar/256440 ^@ NM_000540.2(RYR1):c.14130-8_14130-5delCTCT http://identifiers.org/clinvar/256441 ^@ NM_000540.2(RYR1):c.14157G>A (p.Lys4719=) http://identifiers.org/clinvar/256442 ^@ NM_000540.2(RYR1):c.14303+17C>G http://identifiers.org/clinvar/256443 ^@ NM_000540.2(RYR1):c.14364+38G>A http://identifiers.org/clinvar/256448 ^@ NM_000540.2(RYR1):c.14469G>T (p.Thr4823=) http://identifiers.org/clinvar/256449 ^@ NM_000540.2(RYR1):c.14512-31C>T http://identifiers.org/clinvar/256450 ^@ NM_000540.2(RYR1):c.14647-36G>A http://identifiers.org/clinvar/256451 ^@ NM_000540.2(RYR1):c.14869-41G>T http://identifiers.org/clinvar/256452 ^@ NM_000540.2(RYR1):c.14969+16G>A http://identifiers.org/clinvar/256453 ^@ NM_000540.2(RYR1):c.14969+32G>C http://identifiers.org/clinvar/256454 ^@ NM_000540.2(RYR1):c.15015G>A (p.Thr5005=) http://identifiers.org/clinvar/256455 ^@ NM_000540.2(RYR1):c.15021+37G>T http://identifiers.org/clinvar/256456 ^@ NM_000540.2(RYR1):c.15099T>C (p.Tyr5033=) http://identifiers.org/clinvar/259575 ^@ NM_004924.5(ACTN4):c.246C>T (p.Leu82=) http://identifiers.org/clinvar/259578 ^@ NM_004924.5(ACTN4):c.369C>T (p.Gly123=) http://identifiers.org/clinvar/259579 ^@ NM_004924.5(ACTN4):c.398-16C>T http://identifiers.org/clinvar/259580 ^@ NM_004924.5(ACTN4):c.536C>T (p.Pro179Leu) http://identifiers.org/clinvar/259581 ^@ NM_004924.5(ACTN4):c.537G>A (p.Pro179=) http://identifiers.org/clinvar/259582 ^@ NM_004924.5(ACTN4):c.546C>T (p.Asn182=) http://identifiers.org/clinvar/259583 ^@ NM_004924.5(ACTN4):c.929G>A (p.Arg310Gln) http://identifiers.org/clinvar/259584 ^@ NM_004924.5(ACTN4):c.978G>A (p.Gln326=) http://identifiers.org/clinvar/259566 ^@ NM_004924.5(ACTN4):c.1144-11C>A http://identifiers.org/clinvar/259567 ^@ NM_004924.5(ACTN4):c.1608C>T (p.Arg536=) http://identifiers.org/clinvar/259568 ^@ NM_004924.5(ACTN4):c.1611G>A (p.Ala537=) http://identifiers.org/clinvar/259569 ^@ NM_004924.5(ACTN4):c.1692+10C>G http://identifiers.org/clinvar/259570 ^@ NM_004924.5(ACTN4):c.1770C>T (p.Ile590=) http://identifiers.org/clinvar/259571 ^@ NM_004924.5(ACTN4):c.1977T>C (p.Asn659=) http://identifiers.org/clinvar/259572 ^@ NM_004924.5(ACTN4):c.1998G>A (p.Gln666=) http://identifiers.org/clinvar/259573 ^@ NM_004924.5(ACTN4):c.2316G>A (p.Ala772=) http://identifiers.org/clinvar/259574 ^@ NM_004924.5(ACTN4):c.2401G>A (p.Val801Met) http://identifiers.org/clinvar/259576 ^@ NM_004924.5(ACTN4):c.2563T>C (p.Leu855=) http://identifiers.org/clinvar/259577 ^@ NM_004924.5(ACTN4):c.2670C>A (p.Asp890Glu) http://identifiers.org/clinvar/260775 ^@ NM_016941.3(DLL3):c.153C>T (p.Ser51=) http://identifiers.org/clinvar/260778 ^@ NM_016941.3(DLL3):c.352-18C>G http://identifiers.org/clinvar/260779 ^@ NM_016941.3(DLL3):c.410-40C>T http://identifiers.org/clinvar/260780 ^@ NM_016941.3(DLL3):c.546C>G (p.Ala182=) http://identifiers.org/clinvar/260772 ^@ NM_016941.3(DLL3):c.1029C>T (p.Pro343=) http://identifiers.org/clinvar/260773 ^@ NM_016941.3(DLL3):c.1152G>A (p.Ala384=) http://identifiers.org/clinvar/260774 ^@ NM_016941.3(DLL3):c.1307G>A (p.Arg436His) http://identifiers.org/clinvar/260776 ^@ NM_016941.3(DLL3):c.1562C>T (p.Ser521Phe) http://identifiers.org/clinvar/260777 ^@ NM_016941.3(DLL3):c.1674-10C>T http://identifiers.org/clinvar/261928 ^@ NM_030662.3(MAP2K2):c.1074G>A (p.Ala358=) http://identifiers.org/clinvar/261933 ^@ NM_030662.3(MAP2K2):c.804C>T (p.Pro268=) http://identifiers.org/clinvar/261932 ^@ NM_030662.3(MAP2K2):c.529-5T>C http://identifiers.org/clinvar/261931 ^@ NM_030662.3(MAP2K2):c.529-15C>T http://identifiers.org/clinvar/261930 ^@ NM_030662.3(MAP2K2):c.528+46C>T http://identifiers.org/clinvar/261929 ^@ NM_030662.3(MAP2K2):c.516A>G (p.Lys172=) http://identifiers.org/clinvar/256753 ^@ NM_000660.6(TGFB1):c.861-20C>T http://identifiers.org/clinvar/261879 ^@ NM_030578.3(B9D2):c.*18G>A http://identifiers.org/clinvar/261882 ^@ NM_030578.3(B9D2):c.513C>T (p.Tyr171=) http://identifiers.org/clinvar/261880 ^@ NM_030578.3(B9D2):c.215-16C>G http://identifiers.org/clinvar/261883 ^@ NM_030578.3(B9D2):c.88+6C>T http://identifiers.org/clinvar/261881 ^@ NM_030578.3(B9D2):c.33A>G (p.Ile11Met) http://identifiers.org/clinvar/260385 ^@ NM_014297.4(ETHE1):c.6G>A (p.Ala2=) http://identifiers.org/clinvar/257226 ^@ NM_001039213.3(CEACAM16):c.1268-16C>T http://identifiers.org/clinvar/256019 ^@ NM_000400.3(ERCC2):c.2190+12G>A http://identifiers.org/clinvar/256018 ^@ NM_000400.3(ERCC2):c.2133C>T (p.Asp711=) http://identifiers.org/clinvar/256016 ^@ NM_000400.3(ERCC2):c.1758+32C>G http://identifiers.org/clinvar/256015 ^@ NM_000400.3(ERCC2):c.1737C>T (p.Val579=) http://identifiers.org/clinvar/256014 ^@ NM_000400.3(ERCC2):c.1377+16C>T http://identifiers.org/clinvar/256023 ^@ NM_000400.3(ERCC2):c.949+27dupC http://identifiers.org/clinvar/256022 ^@ NM_000400.3(ERCC2):c.477+9A>C http://identifiers.org/clinvar/256021 ^@ NM_000400.3(ERCC2):c.468A>C (p.Arg156=) http://identifiers.org/clinvar/256020 ^@ NM_000400.3(ERCC2):c.247-35G>A http://identifiers.org/clinvar/256017 ^@ NM_000400.3(ERCC2):c.184-16C>T http://identifiers.org/clinvar/262913 ^@ NM_175875.4(SIX5):c.2077G>A (p.Val693Met) http://identifiers.org/clinvar/262912 ^@ NM_175875.4(SIX5):c.1903C>T (p.Pro635Ser) http://identifiers.org/clinvar/262004 ^@ NM_032040.4(CCDC8):c.1521G>C (p.Lys507Asn) http://identifiers.org/clinvar/262003 ^@ NM_032040.4(CCDC8):c.1141G>A (p.Asp381Asn) http://identifiers.org/clinvar/261690 ^@ NM_024301.4(FKRP):c.486G>A (p.Thr162=) http://identifiers.org/clinvar/261691 ^@ NM_024301.4(FKRP):c.567C>T (p.Pro189=) http://identifiers.org/clinvar/261692 ^@ NM_024301.4(FKRP):c.708G>A (p.Leu236=) http://identifiers.org/clinvar/261689 ^@ NM_024301.4(FKRP):c.1056C>T (p.Arg352=) http://identifiers.org/clinvar/259227 ^@ NM_004069.4(AP2S1):c.267+5G>A http://identifiers.org/clinvar/262481 ^@ NM_144577.3(CCDC114):c.*15A>G http://identifiers.org/clinvar/262497 ^@ NM_144577.3(CCDC114):c.1913C>T (p.Ser638Leu) http://identifiers.org/clinvar/262496 ^@ NM_144577.3(CCDC114):c.1908T>C (p.Ser636=) http://identifiers.org/clinvar/262495 ^@ NM_144577.3(CCDC114):c.1863C>T (p.Gly621=) http://identifiers.org/clinvar/262494 ^@ NM_144577.3(CCDC114):c.1626C>T (p.Pro542=) http://identifiers.org/clinvar/262493 ^@ NM_144577.3(CCDC114):c.1561G>A (p.Ala521Thr) http://identifiers.org/clinvar/262492 ^@ NM_144577.3(CCDC114):c.1539C>T (p.Asp513=) http://identifiers.org/clinvar/262491 ^@ NM_144577.3(CCDC114):c.1495G>T (p.Ala499Ser) http://identifiers.org/clinvar/262490 ^@ NM_144577.3(CCDC114):c.1471-16T>C http://identifiers.org/clinvar/262489 ^@ NM_144577.3(CCDC114):c.1403C>T (p.Pro468Leu) http://identifiers.org/clinvar/262488 ^@ NM_144577.3(CCDC114):c.1370C>T (p.Pro457Leu) http://identifiers.org/clinvar/262485 ^@ NM_144577.3(CCDC114):c.1293+20C>A http://identifiers.org/clinvar/262486 ^@ NM_144577.3(CCDC114):c.1293+8A>G http://identifiers.org/clinvar/262484 ^@ NM_144577.3(CCDC114):c.1164C>T (p.Asp388=) http://identifiers.org/clinvar/262483 ^@ NM_144577.3(CCDC114):c.1065G>A (p.Ser355=) http://identifiers.org/clinvar/262482 ^@ NM_144577.3(CCDC114):c.1032G>A (p.Lys344=) http://identifiers.org/clinvar/262510 ^@ NM_144577.3(CCDC114):c.986G>A (p.Arg329His) http://identifiers.org/clinvar/262509 ^@ NM_144577.3(CCDC114):c.960G>A (p.Glu320=) http://identifiers.org/clinvar/262508 ^@ NM_144577.3(CCDC114):c.877+11C>A http://identifiers.org/clinvar/262507 ^@ NM_144577.3(CCDC114):c.807C>T (p.Asp269=) http://identifiers.org/clinvar/262505 ^@ NM_144577.3(CCDC114):c.745G>A (p.Gly249Arg) http://identifiers.org/clinvar/262504 ^@ NM_144577.3(CCDC114):c.585G>T (p.Leu195=) http://identifiers.org/clinvar/262503 ^@ NM_144577.3(CCDC114):c.555-4G>A http://identifiers.org/clinvar/262502 ^@ NM_144577.3(CCDC114):c.555-15G>T http://identifiers.org/clinvar/262501 ^@ NM_144577.3(CCDC114):c.515G>A (p.Ser172Asn) http://identifiers.org/clinvar/262500 ^@ NM_144577.3(CCDC114):c.487-5C>A http://identifiers.org/clinvar/262499 ^@ NM_144577.3(CCDC114):c.471C>T (p.Asp157=) http://identifiers.org/clinvar/262498 ^@ NM_144577.3(CCDC114):c.249+18G>T http://identifiers.org/clinvar/262487 ^@ NM_144577.3(CCDC114):c.136C>T (p.Arg46Trp) http://identifiers.org/clinvar/262506 ^@ NM_144577.3(CCDC114):c.74G>A (p.Arg25His) http://identifiers.org/clinvar/260834 ^@ NM_017636.3(TRPM4):c.-12G>A http://identifiers.org/clinvar/257574 ^@ NM_001145809.1(MYH14):c.2355-17C>T http://identifiers.org/clinvar/257575 ^@ NM_001145809.1(MYH14):c.4752+15C>T http://identifiers.org/clinvar/257576 ^@ NM_001145809.1(MYH14):c.4752+16G>A http://identifiers.org/clinvar/257577 ^@ NM_001145809.1(MYH14):c.5128-11G>A http://identifiers.org/clinvar/257578 ^@ NM_001145809.1(MYH14):c.5469+16C>T http://identifiers.org/clinvar/258787 ^@ NM_002691.3(POLD1):c.1485C>T (p.Thr495=) http://identifiers.org/clinvar/258788 ^@ NM_002691.3(POLD1):c.2953+12C>T http://identifiers.org/clinvar/259563 ^@ NM_004917.4(KLK4):c.*19C>T http://identifiers.org/clinvar/259564 ^@ NM_004917.4(KLK4):c.591A= (p.Gln197=) http://identifiers.org/clinvar/259565 ^@ NM_004917.4(KLK4):c.66G>T (p.Ser22=) http://identifiers.org/clinvar/262531 ^@ NM_144687.3(NLRP12):c.2469C>T (p.Leu823=) http://identifiers.org/clinvar/262530 ^@ NM_144687.3(NLRP12):c.2469C>A (p.Leu823=) http://identifiers.org/clinvar/262529 ^@ NM_144687.3(NLRP12):c.1206C>G (p.Phe402Leu) http://identifiers.org/clinvar/262533 ^@ NM_144687.3(NLRP12):c.969T>G (p.Leu323=) http://identifiers.org/clinvar/262532 ^@ NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) http://identifiers.org/clinvar/262528 ^@ NM_144687.3(NLRP12):c.116G>T (p.Gly39Val) http://identifiers.org/clinvar/262527 ^@ NM_144687.3(NLRP12):c.-12C>T http://identifiers.org/clinvar/261679 ^@ NM_024075.4(TSEN34):c.*29G>A http://identifiers.org/clinvar/257416 ^@ NM_001083899.2(GP6):c.1816T>C (p.Phe606Leu) http://identifiers.org/clinvar/257415 ^@ NM_001083899.2(GP6):c.1805C>T (p.Thr602Met) http://identifiers.org/clinvar/257414 ^@ NM_001083899.2(GP6):c.1727G>A (p.Arg576Lys) http://identifiers.org/clinvar/257413 ^@ NM_001083899.2(GP6):c.1717A>G (p.Arg573Gly) http://identifiers.org/clinvar/257412 ^@ NM_001083899.2(GP6):c.1495G>A (p.Gly499Ser) http://identifiers.org/clinvar/257411 ^@ NM_001083899.2(GP6):c.1419C>T (p.Pro473=) http://identifiers.org/clinvar/257410 ^@ NM_001083899.2(GP6):c.1206_1209dupTCTG (p.Pro404Serfs) http://identifiers.org/clinvar/257428 ^@ NM_001083899.2(GP6):c.968A>C (p.Lys323Thr) http://identifiers.org/clinvar/257427 ^@ NM_001083899.2(GP6):c.954T>A (p.Ala318=) http://identifiers.org/clinvar/257426 ^@ NM_001083899.2(GP6):c.940C>G (p.Pro314Ala) http://identifiers.org/clinvar/257425 ^@ NM_001083899.2(GP6):c.885G>A (p.Pro295=) http://identifiers.org/clinvar/257424 ^@ NM_001083899.2(GP6):c.745G>A (p.Ala249Thr) http://identifiers.org/clinvar/257423 ^@ NM_001083899.2(GP6):c.709G>A (p.Glu237Lys) http://identifiers.org/clinvar/257422 ^@ NM_001083899.2(GP6):c.655C>T (p.Pro219Ser) http://identifiers.org/clinvar/257421 ^@ NM_001083899.2(GP6):c.576A>G (p.Ser192=) http://identifiers.org/clinvar/257420 ^@ NM_001083899.2(GP6):c.507G>A (p.Thr169=) http://identifiers.org/clinvar/257419 ^@ NM_001083899.2(GP6):c.495T>C (p.Phe165=) http://identifiers.org/clinvar/257418 ^@ NM_001083899.2(GP6):c.484A>C (p.Arg162=) http://identifiers.org/clinvar/257417 ^@ NM_001083899.2(GP6):c.35-19C>T http://identifiers.org/clinvar/259028 ^@ NM_003283.5(TNNT1):c.*12C>T http://identifiers.org/clinvar/259035 ^@ NM_003283.5(TNNT1):c.751-5C>T http://identifiers.org/clinvar/259033 ^@ NM_003283.5(TNNT1):c.751-16T>C http://identifiers.org/clinvar/259034 ^@ NM_003283.5(TNNT1):c.751-42_751-35delGTCCCCAC http://identifiers.org/clinvar/259030 ^@ NM_003283.5(TNNT1):c.193-42C>G http://identifiers.org/clinvar/259029 ^@ NM_003283.5(TNNT1):c.128+17T>G http://identifiers.org/clinvar/259032 ^@ NM_003283.5(TNNT1):c.73+45dupG http://identifiers.org/clinvar/259031 ^@ NM_003283.5(TNNT1):c.47-6C>G http://identifiers.org/clinvar/255944 ^@ NM_000363.4(TNNI3):c.108+21G>A http://identifiers.org/clinvar/257685 ^@ NM_001256714.1(DNAAF3):c.1449G>A (p.Val483=) http://identifiers.org/clinvar/257684 ^@ NM_001256714.1(DNAAF3):c.1440-8A>G http://identifiers.org/clinvar/257682 ^@ NM_001256714.1(DNAAF3):c.1365-14C>T http://identifiers.org/clinvar/257683 ^@ NM_001256714.1(DNAAF3):c.1365-15C>T http://identifiers.org/clinvar/257681 ^@ NM_001256714.1(DNAAF3):c.1257G>C (p.Pro419=) http://identifiers.org/clinvar/257680 ^@ NM_001256714.1(DNAAF3):c.1257G>A (p.Pro419=) http://identifiers.org/clinvar/257679 ^@ NM_001256714.1(DNAAF3):c.1205T>C (p.Leu402Pro) http://identifiers.org/clinvar/257678 ^@ NM_001256714.1(DNAAF3):c.1117-8A>G http://identifiers.org/clinvar/257677 ^@ NM_001256714.1(DNAAF3):c.1117-13C>T http://identifiers.org/clinvar/257676 ^@ NM_001256714.1(DNAAF3):c.1079A>G (p.Glu360Gly) http://identifiers.org/clinvar/257695 ^@ NM_001256714.1(DNAAF3):c.994-14C>T http://identifiers.org/clinvar/257694 ^@ NM_001256714.1(DNAAF3):c.870T>C (p.Ala290=) http://identifiers.org/clinvar/257693 ^@ NM_001256714.1(DNAAF3):c.868-9C>T http://identifiers.org/clinvar/257692 ^@ NM_001256714.1(DNAAF3):c.816C>T (p.Ala272=) http://identifiers.org/clinvar/257691 ^@ NM_001256714.1(DNAAF3):c.733G>A (p.Gly245Ser) http://identifiers.org/clinvar/257689 ^@ NM_001256714.1(DNAAF3):c.714A>G (p.Val238=) http://identifiers.org/clinvar/257688 ^@ NM_001256714.1(DNAAF3):c.531A>G (p.Arg177=) http://identifiers.org/clinvar/257687 ^@ NM_001256714.1(DNAAF3):c.527-4delG http://identifiers.org/clinvar/257686 ^@ NM_001256714.1(DNAAF3):c.527-17T>G http://identifiers.org/clinvar/257690 ^@ NM_001256714.1(DNAAF3):c.72C>T (p.His24=) http://identifiers.org/clinvar/259425 ^@ NM_004558.4(NRTN):c.144C>T (p.Asp48=) http://identifiers.org/clinvar/259426 ^@ NM_004558.4(NRTN):c.170-18C>T http://identifiers.org/clinvar/259427 ^@ NM_004558.4(NRTN):c.175G>A (p.Ala59Thr) http://identifiers.org/clinvar/259428 ^@ NM_004558.4(NRTN):c.474G>C (p.Arg158=) http://identifiers.org/clinvar/261323 ^@ NM_020533.2(MCOLN1):c.966A>C (p.Arg322=) http://identifiers.org/clinvar/261324 ^@ NM_020533.2(MCOLN1):c.984C>T (p.Asn328=) http://identifiers.org/clinvar/260081 ^@ NM_006949.3(STXBP2):c.-38delG http://identifiers.org/clinvar/260103 ^@ NM_006949.3(STXBP2):c.38-30A>C http://identifiers.org/clinvar/260104 ^@ NM_006949.3(STXBP2):c.38-7C>T http://identifiers.org/clinvar/260106 ^@ NM_006949.3(STXBP2):c.49G>A (p.Gly17Arg) http://identifiers.org/clinvar/260096 ^@ NM_006949.3(STXBP2):c.165C>T (p.Ile55=) http://identifiers.org/clinvar/260098 ^@ NM_006949.3(STXBP2):c.169+12C>T http://identifiers.org/clinvar/260105 ^@ NM_006949.3(STXBP2):c.495C>T (p.Arg165=) http://identifiers.org/clinvar/260107 ^@ NM_006949.3(STXBP2):c.609C>T (p.His203=) http://identifiers.org/clinvar/260108 ^@ NM_006949.3(STXBP2):c.663+10C>T http://identifiers.org/clinvar/260109 ^@ NM_006949.3(STXBP2):c.816C>T (p.Ser272=) http://identifiers.org/clinvar/260110 ^@ NM_006949.3(STXBP2):c.849G>A (p.Glu283=) http://identifiers.org/clinvar/260082 ^@ NM_006949.3(STXBP2):c.1026+35G>A http://identifiers.org/clinvar/260083 ^@ NM_006949.3(STXBP2):c.1108-46T>C http://identifiers.org/clinvar/260084 ^@ NM_006949.3(STXBP2):c.1167C>T (p.Ile389=) http://identifiers.org/clinvar/260085 ^@ NM_006949.3(STXBP2):c.1191G>A (p.Ala397=) http://identifiers.org/clinvar/260087 ^@ NM_006949.3(STXBP2):c.1247-43T>C http://identifiers.org/clinvar/260086 ^@ NM_006949.3(STXBP2):c.1247-10C>T http://identifiers.org/clinvar/260088 ^@ NM_006949.3(STXBP2):c.1356+18A>G http://identifiers.org/clinvar/260089 ^@ NM_006949.3(STXBP2):c.1443T>C (p.Asp481=) http://identifiers.org/clinvar/260090 ^@ NM_006949.3(STXBP2):c.1538+10C>T http://identifiers.org/clinvar/260091 ^@ NM_006949.3(STXBP2):c.1538+17G>A http://identifiers.org/clinvar/260092 ^@ NM_006949.3(STXBP2):c.1538+28C>T http://identifiers.org/clinvar/260093 ^@ NM_006949.3(STXBP2):c.1539-47G>A http://identifiers.org/clinvar/260094 ^@ NM_006949.3(STXBP2):c.1576A>G (p.Ile526Val) http://identifiers.org/clinvar/260095 ^@ NM_006949.3(STXBP2):c.1590G>A (p.Ala530=) http://identifiers.org/clinvar/260097 ^@ NM_006949.3(STXBP2):c.1663A>G (p.Arg555Gly) http://identifiers.org/clinvar/260099 ^@ NM_006949.3(STXBP2):c.1696+20A>G http://identifiers.org/clinvar/260100 ^@ NM_006949.3(STXBP2):c.1696+28G>C http://identifiers.org/clinvar/260101 ^@ NM_006949.3(STXBP2):c.1696+46C>T http://identifiers.org/clinvar/260102 ^@ NM_006949.3(STXBP2):c.1697-26T>G http://identifiers.org/clinvar/260080 ^@ NM_006949.3(STXBP2):c.*12G>A http://identifiers.org/clinvar/258502 ^@ NM_001972.3(ELANE):c.99C>T (p.Gly33=) http://identifiers.org/clinvar/258497 ^@ NM_001972.3(ELANE):c.171C>T (p.Ala57=) http://identifiers.org/clinvar/258498 ^@ NM_001972.3(ELANE):c.390C>T (p.Asn130=) http://identifiers.org/clinvar/258499 ^@ NM_001972.3(ELANE):c.654C>T (p.Phe218=) http://identifiers.org/clinvar/258500 ^@ NM_001972.3(ELANE):c.742C>T (p.Arg248Cys) http://identifiers.org/clinvar/258501 ^@ NM_001972.3(ELANE):c.770C>T (p.Pro257Leu) http://identifiers.org/clinvar/262567 ^@ NM_145045.4(CCDC151):c.366+7A>G http://identifiers.org/clinvar/261058 ^@ NM_018848.3(MKKS):c.*46G>T http://identifiers.org/clinvar/261057 ^@ NM_018848.3(MKKS):c.*38A>G http://identifiers.org/clinvar/261059 ^@ NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr) http://identifiers.org/clinvar/261061 ^@ NM_018848.3(MKKS):c.986-29A>T http://identifiers.org/clinvar/261060 ^@ NM_018848.3(MKKS):c.985+33G>C http://identifiers.org/clinvar/255558 ^@ NM_000214.2(JAG1):c.3048+30_3048+32delATT http://identifiers.org/clinvar/255556 ^@ NM_000214.2(JAG1):c.2917-30A>G http://identifiers.org/clinvar/255555 ^@ NM_000214.2(JAG1):c.2916+27delT http://identifiers.org/clinvar/255554 ^@ NM_000214.2(JAG1):c.2724C>T (p.His908=) http://identifiers.org/clinvar/255553 ^@ NM_000214.2(JAG1):c.2573-16C>T http://identifiers.org/clinvar/255552 ^@ NM_000214.2(JAG1):c.2459-17A>C http://identifiers.org/clinvar/255551 ^@ NM_000214.2(JAG1):c.2458+30A>G http://identifiers.org/clinvar/255550 ^@ NM_000214.2(JAG1):c.1720+5C>T http://identifiers.org/clinvar/255549 ^@ NM_000214.2(JAG1):c.1578C>T (p.Ile526=) http://identifiers.org/clinvar/255548 ^@ NM_000214.2(JAG1):c.1570-28C>G http://identifiers.org/clinvar/255547 ^@ NM_000214.2(JAG1):c.1349-11T>G http://identifiers.org/clinvar/255546 ^@ NM_000214.2(JAG1):c.1234+21_1234+22delGT http://identifiers.org/clinvar/255545 ^@ NM_000214.2(JAG1):c.1195G>A (p.Val399Met) http://identifiers.org/clinvar/255544 ^@ NM_000214.2(JAG1):c.1007-16A>G http://identifiers.org/clinvar/255562 ^@ NM_000214.2(JAG1):c.886+19A>T http://identifiers.org/clinvar/255561 ^@ NM_000214.2(JAG1):c.435C>T (p.Thr145=) http://identifiers.org/clinvar/255560 ^@ NM_000214.2(JAG1):c.400T>C (p.Leu134=) http://identifiers.org/clinvar/255559 ^@ NM_000214.2(JAG1):c.388-43C>T http://identifiers.org/clinvar/255557 ^@ NM_000214.2(JAG1):c.294C>T (p.Ser98=) http://identifiers.org/clinvar/257616 ^@ NM_001195.4(BFSP1):c.1926C>T (p.Thr642=) http://identifiers.org/clinvar/257615 ^@ NM_001195.4(BFSP1):c.1749A>G (p.Pro583=) http://identifiers.org/clinvar/257614 ^@ NM_001195.4(BFSP1):c.1500G>A (p.Ala500=) http://identifiers.org/clinvar/257612 ^@ NM_001195.4(BFSP1):c.1033G>A (p.Gly345Ser) http://identifiers.org/clinvar/257617 ^@ NM_001195.4(BFSP1):c.804C>T (p.Asn268=) http://identifiers.org/clinvar/257613 ^@ NM_001195.4(BFSP1):c.106_107delGCinsTT (p.Ala36Phe) http://identifiers.org/clinvar/262249 ^@ NM_052865.3(MGME1):c.846T>C (p.Asp282=) http://identifiers.org/clinvar/259967 ^@ NM_006363.4(SEC23B):c.816T>C (p.Ile272=) http://identifiers.org/clinvar/259964 ^@ NM_006363.4(SEC23B):c.1484G>A (p.Arg495His) http://identifiers.org/clinvar/259965 ^@ NM_006363.4(SEC23B):c.1491C>T (p.Arg497=) http://identifiers.org/clinvar/259966 ^@ NM_006363.4(SEC23B):c.1649G>A (p.Arg550Gln) http://identifiers.org/clinvar/257655 ^@ NM_001242581.1(RIN2):c.736T>A (p.Ser246Thr) http://identifiers.org/clinvar/257654 ^@ NM_001242581.1(RIN2):c.1965C>T (p.His655=) http://identifiers.org/clinvar/260423 ^@ NM_014588.5(VSX1):c.18G>T (p.Ser6=) http://identifiers.org/clinvar/261999 ^@ NM_032034.3(SLC4A11):c.2437-9C>T http://identifiers.org/clinvar/261998 ^@ NM_032034.3(SLC4A11):c.2241-18C>T http://identifiers.org/clinvar/261997 ^@ NM_032034.3(SLC4A11):c.1659C>T (p.Asn553=) http://identifiers.org/clinvar/261996 ^@ NM_032034.3(SLC4A11):c.1389G>A (p.Thr463=) http://identifiers.org/clinvar/261994 ^@ NM_032034.3(SLC4A11):c.1331-11C>T http://identifiers.org/clinvar/261993 ^@ NM_032034.3(SLC4A11):c.1091-15A>C http://identifiers.org/clinvar/262002 ^@ NM_032034.3(SLC4A11):c.639G>A (p.Ser213=) http://identifiers.org/clinvar/262001 ^@ NM_032034.3(SLC4A11):c.481A>C (p.Arg161=) http://identifiers.org/clinvar/262000 ^@ NM_032034.3(SLC4A11):c.405G>A (p.Ala135=) http://identifiers.org/clinvar/261995 ^@ NM_032034.3(SLC4A11):c.137-8G>T http://identifiers.org/clinvar/258904 ^@ NM_003098.2(SNTA1):c.229C>T (p.Leu77=) http://identifiers.org/clinvar/262917 ^@ NM_176812.4(CHMP4B):c.480C>T (p.Asp160=) http://identifiers.org/clinvar/262916 ^@ NM_176812.4(CHMP4B):c.*1T>C http://identifiers.org/clinvar/255474 ^@ NM_000178.3(GSS):c.275+20T>G http://identifiers.org/clinvar/255473 ^@ NM_000178.3(GSS):c.275+20delT http://identifiers.org/clinvar/256714 ^@ NM_000557.4(GDF5):c.1309T>C (p.Leu437=) http://identifiers.org/clinvar/256713 ^@ NM_000557.4(GDF5):c.1017A= (p.Lys339=) http://identifiers.org/clinvar/256716 ^@ NM_000557.4(GDF5):c.826G= (p.Ala276=) http://identifiers.org/clinvar/256715 ^@ NM_000557.4(GDF5):c.388G>A (p.Gly130Arg) http://identifiers.org/clinvar/256712 ^@ NM_000557.4(GDF5):c.-48C= http://identifiers.org/clinvar/262914 ^@ NM_175914.4(HNF4A):c.319+19C>T http://identifiers.org/clinvar/262915 ^@ NM_175914.4(HNF4A):c.670+18C>A http://identifiers.org/clinvar/254716 ^@ NM_000022.3(ADA):c.534A>G (p.Val178=) http://identifiers.org/clinvar/254715 ^@ NM_000022.3(ADA):c.445C>A (p.Arg149=) http://identifiers.org/clinvar/261938 ^@ NM_030777.3(SLC2A10):c.633G>A (p.Pro211=) http://identifiers.org/clinvar/261937 ^@ NM_030777.3(SLC2A10):c.1371G>A (p.Ala457=) http://identifiers.org/clinvar/259981 ^@ NM_006420.2(ARFGEF2):c.839-20A>G http://identifiers.org/clinvar/259979 ^@ NM_006420.2(ARFGEF2):c.2277-16G>A http://identifiers.org/clinvar/259980 ^@ NM_006420.2(ARFGEF2):c.4755+19A>G http://identifiers.org/clinvar/259186 ^@ NM_003859.2(DPM1):c.22C>T (p.Arg8Cys) http://identifiers.org/clinvar/261263 ^@ NM_020436.4(SALL4):c.2640G>C (p.Ser880=) http://identifiers.org/clinvar/261262 ^@ NM_020436.4(SALL4):c.2392A>C (p.Ile798Leu) http://identifiers.org/clinvar/261261 ^@ NM_020436.4(SALL4):c.2037C>T (p.Thr679=) http://identifiers.org/clinvar/261260 ^@ NM_020436.4(SALL4):c.1860A>G (p.Thr620=) http://identifiers.org/clinvar/261259 ^@ NM_020436.4(SALL4):c.1520T>G (p.Leu507Arg) http://identifiers.org/clinvar/261258 ^@ NM_020436.4(SALL4):c.1056G>A (p.Ala352=) http://identifiers.org/clinvar/261266 ^@ NM_020436.4(SALL4):c.990C>T (p.Leu330=) http://identifiers.org/clinvar/261265 ^@ NM_020436.4(SALL4):c.645C>G (p.Leu215=) http://identifiers.org/clinvar/261264 ^@ NM_020436.4(SALL4):c.540T>C (p.Asn180=) http://identifiers.org/clinvar/259537 ^@ NM_004738.4(VAPB):c.315+35C>T http://identifiers.org/clinvar/259538 ^@ NM_004738.4(VAPB):c.390T>G (p.Asp130Glu) http://identifiers.org/clinvar/260868 ^@ NM_017671.4(FERMT1):c.1695T>C (p.Phe565=) http://identifiers.org/clinvar/260867 ^@ NM_017671.4(FERMT1):c.1577G>A (p.Arg526Lys) http://identifiers.org/clinvar/260866 ^@ NM_017671.4(FERMT1):c.1575A>G (p.Lys525=) http://identifiers.org/clinvar/260865 ^@ NM_017671.4(FERMT1):c.152-4G>A http://identifiers.org/clinvar/260864 ^@ NM_017671.4(FERMT1):c.114T>C (p.His38=) http://identifiers.org/clinvar/260863 ^@ NM_017671.4(FERMT1):c.-18-11T>G http://identifiers.org/clinvar/258421 ^@ NM_001853.3(COL9A3):c.255+18_255+20dupTCC http://identifiers.org/clinvar/258422 ^@ NM_001853.3(COL9A3):c.280C>T (p.Pro94Ser) http://identifiers.org/clinvar/258423 ^@ NM_001853.3(COL9A3):c.346-22G>A http://identifiers.org/clinvar/258424 ^@ NM_001853.3(COL9A3):c.410T>C (p.Leu137Pro) http://identifiers.org/clinvar/258425 ^@ NM_001853.3(COL9A3):c.477+33G>A http://identifiers.org/clinvar/258426 ^@ NM_001853.3(COL9A3):c.520-6C>T http://identifiers.org/clinvar/258427 ^@ NM_001853.3(COL9A3):c.537G>A (p.Pro179=) http://identifiers.org/clinvar/258428 ^@ NM_001853.3(COL9A3):c.546C>T (p.Pro182=) http://identifiers.org/clinvar/258429 ^@ NM_001853.3(COL9A3):c.631-45G>A http://identifiers.org/clinvar/258430 ^@ NM_001853.3(COL9A3):c.685-4G>T http://identifiers.org/clinvar/258431 ^@ NM_001853.3(COL9A3):c.738+8C>T http://identifiers.org/clinvar/258432 ^@ NM_001853.3(COL9A3):c.755G>A (p.Arg252Gln) http://identifiers.org/clinvar/258433 ^@ NM_001853.3(COL9A3):c.792+19G>A http://identifiers.org/clinvar/258434 ^@ NM_001853.3(COL9A3):c.793-46A>T http://identifiers.org/clinvar/258435 ^@ NM_001853.3(COL9A3):c.847-16C>T http://identifiers.org/clinvar/258436 ^@ NM_001853.3(COL9A3):c.887C>T (p.Pro296Leu) http://identifiers.org/clinvar/258437 ^@ NM_001853.3(COL9A3):c.909G>A (p.Pro303=) http://identifiers.org/clinvar/258402 ^@ NM_001853.3(COL9A3):c.1008+10C>T http://identifiers.org/clinvar/258403 ^@ NM_001853.3(COL9A3):c.1008+12G>C http://identifiers.org/clinvar/258404 ^@ NM_001853.3(COL9A3):c.1215+36dupG http://identifiers.org/clinvar/258405 ^@ NM_001853.3(COL9A3):c.1327A>G (p.Ile443Val) http://identifiers.org/clinvar/258406 ^@ NM_001853.3(COL9A3):c.1368+24G>A http://identifiers.org/clinvar/258407 ^@ NM_001853.3(COL9A3):c.1401+13C>T http://identifiers.org/clinvar/258408 ^@ NM_001853.3(COL9A3):c.1402-9C>T http://identifiers.org/clinvar/258409 ^@ NM_001853.3(COL9A3):c.1427C>G (p.Pro476Arg) http://identifiers.org/clinvar/258410 ^@ NM_001853.3(COL9A3):c.1476C>T (p.Pro492=) http://identifiers.org/clinvar/258411 ^@ NM_001853.3(COL9A3):c.1485C>T (p.Pro495=) http://identifiers.org/clinvar/258412 ^@ NM_001853.3(COL9A3):c.1548+16G>A http://identifiers.org/clinvar/258413 ^@ NM_001853.3(COL9A3):c.1549-30A>G http://identifiers.org/clinvar/258414 ^@ NM_001853.3(COL9A3):c.1549-4C>A http://identifiers.org/clinvar/258415 ^@ NM_001853.3(COL9A3):c.1603+14G>C http://identifiers.org/clinvar/258416 ^@ NM_001853.3(COL9A3):c.1621G>A (p.Ala541Thr) http://identifiers.org/clinvar/258417 ^@ NM_001853.3(COL9A3):c.1740T>C (p.Pro580=) http://identifiers.org/clinvar/258418 ^@ NM_001853.3(COL9A3):c.1816G>A (p.Ala606Thr) http://identifiers.org/clinvar/258419 ^@ NM_001853.3(COL9A3):c.1896C>T (p.Asp632=) http://identifiers.org/clinvar/258420 ^@ NM_001853.3(COL9A3):c.2044C>A (p.Arg682=) http://identifiers.org/clinvar/258401 ^@ NM_001853.3(COL9A3):c.*9G>A http://identifiers.org/clinvar/261031 ^@ NM_018419.2(SOX18):c.801G>A (p.Ala267=) http://identifiers.org/clinvar/261030 ^@ NM_018419.2(SOX18):c.358+34A>C http://identifiers.org/clinvar/261029 ^@ NM_018419.2(SOX18):c.243C>T (p.Asp81=) http://identifiers.org/clinvar/257621 ^@ NM_001200.3(BMP2):c.630C>T (p.Thr210=) http://identifiers.org/clinvar/257620 ^@ NM_001200.3(BMP2):c.1161C>T (p.Asp387=) http://identifiers.org/clinvar/262227 ^@ NM_033409.3(SLC52A3):c.*16delC http://identifiers.org/clinvar/262230 ^@ NM_033409.3(SLC52A3):c.1233T>C (p.Ser411=) http://identifiers.org/clinvar/262229 ^@ NM_033409.3(SLC52A3):c.1073+21A>T http://identifiers.org/clinvar/262241 ^@ NM_033409.3(SLC52A3):c.907A>G (p.Ile303Val) http://identifiers.org/clinvar/262240 ^@ NM_033409.3(SLC52A3):c.833C>T (p.Thr278Met) http://identifiers.org/clinvar/262239 ^@ NM_033409.3(SLC52A3):c.800C>T (p.Pro267Leu) http://identifiers.org/clinvar/262238 ^@ NM_033409.3(SLC52A3):c.765C>T (p.Leu255=) http://identifiers.org/clinvar/262237 ^@ NM_033409.3(SLC52A3):c.645C>T (p.Pro215=) http://identifiers.org/clinvar/262236 ^@ NM_033409.3(SLC52A3):c.600C>T (p.Pro200=) http://identifiers.org/clinvar/262235 ^@ NM_033409.3(SLC52A3):c.568-16_568-15insATTGACCTG http://identifiers.org/clinvar/262234 ^@ NM_033409.3(SLC52A3):c.456C>T (p.Pro152=) http://identifiers.org/clinvar/262233 ^@ NM_033409.3(SLC52A3):c.321C>T (p.Ala107=) http://identifiers.org/clinvar/262232 ^@ NM_033409.3(SLC52A3):c.240C>T (p.Gly80=) http://identifiers.org/clinvar/262231 ^@ NM_033409.3(SLC52A3):c.222C>G (p.Ile74Met) http://identifiers.org/clinvar/262242 ^@ NM_033409.3(SLC52A3):c.9C>T (p.Phe3=) http://identifiers.org/clinvar/262228 ^@ NM_033409.3(SLC52A3):c.-14_-6delGGGCAGATA http://identifiers.org/clinvar/260593 ^@ NM_015192.3(PLCB1):c.1167+16G>A http://identifiers.org/clinvar/260594 ^@ NM_015192.3(PLCB1):c.1491C>T (p.Phe497=) http://identifiers.org/clinvar/260595 ^@ NM_015192.3(PLCB1):c.1581+15C>T http://identifiers.org/clinvar/260596 ^@ NM_015192.3(PLCB1):c.2711-18C>T http://identifiers.org/clinvar/256202 ^@ NM_000454.4(SOD1):c.239+34A>C http://identifiers.org/clinvar/256201 ^@ NM_000454.4(SOD1):c.*2C>T http://identifiers.org/clinvar/262799 ^@ NM_172201.1(KCNE2):c.-12-16A>G http://identifiers.org/clinvar/258181 ^@ NM_001754.4(RUNX1):c.*44C>G http://identifiers.org/clinvar/258180 ^@ NM_001754.4(RUNX1):c.*27C>A http://identifiers.org/clinvar/258184 ^@ NM_001754.4(RUNX1):c.1389C>G (p.Pro463=) http://identifiers.org/clinvar/258183 ^@ NM_001754.4(RUNX1):c.1275G>A (p.Pro425=) http://identifiers.org/clinvar/258182 ^@ NM_001754.4(RUNX1):c.1044C>T (p.His348=) http://identifiers.org/clinvar/258187 ^@ NM_001754.4(RUNX1):c.984A>G (p.Thr328=) http://identifiers.org/clinvar/258186 ^@ NM_001754.4(RUNX1):c.614-34C>T http://identifiers.org/clinvar/258185 ^@ NM_001754.4(RUNX1):c.351+15A>G http://identifiers.org/clinvar/257579 ^@ NM_001146077.1(CLDN14):c.450G>A (p.Pro150=) http://identifiers.org/clinvar/256033 ^@ NM_000411.6(HLCS):c.*40A>G http://identifiers.org/clinvar/256035 ^@ NM_000411.6(HLCS):c.1681-30G>A http://identifiers.org/clinvar/256036 ^@ NM_000411.6(HLCS):c.1681-35G>A http://identifiers.org/clinvar/256034 ^@ NM_000411.6(HLCS):c.1452-46G>T http://identifiers.org/clinvar/256037 ^@ NM_000411.6(HLCS):c.997-36G>A http://identifiers.org/clinvar/261351 ^@ NM_020639.2(RIPK4):c.2331G>A (p.Thr777=) http://identifiers.org/clinvar/261350 ^@ NM_020639.2(RIPK4):c.1996A>G (p.Met666Val) http://identifiers.org/clinvar/261349 ^@ NM_020639.2(RIPK4):c.1548C>T (p.Asp516=) http://identifiers.org/clinvar/261348 ^@ NM_020639.2(RIPK4):c.1476G>A (p.Ala492=) http://identifiers.org/clinvar/261347 ^@ NM_020639.2(RIPK4):c.1203C>T (p.Gly401=) http://identifiers.org/clinvar/261346 ^@ NM_020639.2(RIPK4):c.1005G>T (p.Leu335=) http://identifiers.org/clinvar/254878 ^@ NM_000071.2(CBS):c.1358+15C>G http://identifiers.org/clinvar/256010 ^@ NM_000394.3(CRYAA):c.6C>T (p.Asp2=) http://identifiers.org/clinvar/256008 ^@ NM_000394.3(CRYAA):c.327C>T (p.Tyr109=) http://identifiers.org/clinvar/256009 ^@ NM_000394.3(CRYAA):c.444T>A (p.Thr148=) http://identifiers.org/clinvar/255971 ^@ NM_000383.3(AIRE):c.1476C>T (p.Pro492=) http://identifiers.org/clinvar/259589 ^@ NM_004928.2(C21orf2):c.707A>G (p.Gln236Arg) http://identifiers.org/clinvar/259588 ^@ NM_004928.2(C21orf2):c.684T>C (p.Asp228=) http://identifiers.org/clinvar/259587 ^@ NM_004928.2(C21orf2):c.449C>T (p.Thr150Ile) http://identifiers.org/clinvar/259585 ^@ NM_004928.2(C21orf2):c.172G>T (p.Val58Leu) http://identifiers.org/clinvar/259586 ^@ NM_004928.2(C21orf2):c.33G>A (p.Arg11=) http://identifiers.org/clinvar/261919 ^@ NM_030582.3(COL18A1):c.639A>G (p.Pro213=) http://identifiers.org/clinvar/261885 ^@ NM_030582.3(COL18A1):c.1192-42A>G http://identifiers.org/clinvar/261886 ^@ NM_030582.3(COL18A1):c.1377C>G (p.Pro459=) http://identifiers.org/clinvar/261887 ^@ NM_030582.3(COL18A1):c.1386G>T (p.Thr462=) http://identifiers.org/clinvar/261888 ^@ NM_030582.3(COL18A1):c.1455G>T (p.Val485=) http://identifiers.org/clinvar/261889 ^@ NM_030582.3(COL18A1):c.1683G>A (p.Ala561=) http://identifiers.org/clinvar/261890 ^@ NM_030582.3(COL18A1):c.1852-37G>A http://identifiers.org/clinvar/261891 ^@ NM_030582.3(COL18A1):c.1939-48C>G http://identifiers.org/clinvar/261892 ^@ NM_030582.3(COL18A1):c.2214+34A>C http://identifiers.org/clinvar/261893 ^@ NM_030582.3(COL18A1):c.2215-6G>A http://identifiers.org/clinvar/261894 ^@ NM_030582.3(COL18A1):c.2374-23C>A http://identifiers.org/clinvar/261895 ^@ NM_030582.3(COL18A1):c.2460T>C (p.Leu820=) http://identifiers.org/clinvar/261896 ^@ NM_030582.3(COL18A1):c.2490G>A (p.Pro830=) http://identifiers.org/clinvar/261897 ^@ NM_030582.3(COL18A1):c.2521G>A (p.Val841Ile) http://identifiers.org/clinvar/261898 ^@ NM_030582.3(COL18A1):c.2657C>G (p.Pro886Arg) http://identifiers.org/clinvar/261899 ^@ NM_030582.3(COL18A1):c.2736G>A (p.Pro912=) http://identifiers.org/clinvar/261900 ^@ NM_030582.3(COL18A1):c.2754+35_2754+36insCCACTGCCCTCCCG http://identifiers.org/clinvar/261901 ^@ NM_030582.3(COL18A1):c.2892+28A>G http://identifiers.org/clinvar/261902 ^@ NM_030582.3(COL18A1):c.3117+37delC http://identifiers.org/clinvar/261903 ^@ NM_030582.3(COL18A1):c.3160+29C>T http://identifiers.org/clinvar/261904 ^@ NM_030582.3(COL18A1):c.3224-28C>T http://identifiers.org/clinvar/261905 ^@ NM_030582.3(COL18A1):c.3268-8G>A http://identifiers.org/clinvar/261906 ^@ NM_030582.3(COL18A1):c.3321C>T (p.Pro1107=) http://identifiers.org/clinvar/261907 ^@ NM_030582.3(COL18A1):c.3618+9_3618+10delCT http://identifiers.org/clinvar/261908 ^@ NM_030582.3(COL18A1):c.3762A>G (p.Thr1254=) http://identifiers.org/clinvar/261909 ^@ NM_030582.3(COL18A1):c.3781-15G>A http://identifiers.org/clinvar/261910 ^@ NM_030582.3(COL18A1):c.3978G>A (p.Ala1326=) http://identifiers.org/clinvar/261911 ^@ NM_030582.3(COL18A1):c.4026+38C>G http://identifiers.org/clinvar/261912 ^@ NM_030582.3(COL18A1):c.4059A>G (p.Ser1353=) http://identifiers.org/clinvar/261913 ^@ NM_030582.3(COL18A1):c.4110G>A (p.Ala1370=) http://identifiers.org/clinvar/261914 ^@ NM_030582.3(COL18A1):c.4141G>A (p.Ala1381Thr) http://identifiers.org/clinvar/261917 ^@ NM_030582.3(COL18A1):c.4225-33A>C http://identifiers.org/clinvar/261916 ^@ NM_030582.3(COL18A1):c.4225-32C>A http://identifiers.org/clinvar/261915 ^@ NM_030582.3(COL18A1):c.4225-16_4225-15dupAC http://identifiers.org/clinvar/261918 ^@ NM_030582.3(COL18A1):c.4341-20C>T http://identifiers.org/clinvar/261884 ^@ NM_030582.3(COL18A1):c.*16G>A http://identifiers.org/clinvar/258282 ^@ NM_001848.2(COL6A1):c.-8C>A http://identifiers.org/clinvar/258311 ^@ NM_001848.2(COL6A1):c.97+20G>A http://identifiers.org/clinvar/258301 ^@ NM_001848.2(COL6A1):c.423C>T (p.Leu141=) http://identifiers.org/clinvar/258302 ^@ NM_001848.2(COL6A1):c.429-30C>T http://identifiers.org/clinvar/258303 ^@ NM_001848.2(COL6A1):c.579C>T (p.Pro193=) http://identifiers.org/clinvar/258304 ^@ NM_001848.2(COL6A1):c.717+33G>A http://identifiers.org/clinvar/258305 ^@ NM_001848.2(COL6A1):c.759+16G>A http://identifiers.org/clinvar/258306 ^@ NM_001848.2(COL6A1):c.777G>A (p.Pro259=) http://identifiers.org/clinvar/258307 ^@ NM_001848.2(COL6A1):c.805-36G>A http://identifiers.org/clinvar/258308 ^@ NM_001848.2(COL6A1):c.930+14G>A http://identifiers.org/clinvar/258309 ^@ NM_001848.2(COL6A1):c.930+30T>C http://identifiers.org/clinvar/258310 ^@ NM_001848.2(COL6A1):c.931-4G>A http://identifiers.org/clinvar/258312 ^@ NM_001848.2(COL6A1):c.993C>T (p.Asp331=) http://identifiers.org/clinvar/258283 ^@ NM_001848.2(COL6A1):c.1003-15delT http://identifiers.org/clinvar/258284 ^@ NM_001848.2(COL6A1):c.1186C>G (p.Gln396Glu) http://identifiers.org/clinvar/258285 ^@ NM_001848.2(COL6A1):c.1336-17G>A http://identifiers.org/clinvar/258286 ^@ NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) http://identifiers.org/clinvar/258287 ^@ NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) http://identifiers.org/clinvar/258288 ^@ NM_001848.2(COL6A1):c.1611+20C>T http://identifiers.org/clinvar/258289 ^@ NM_001848.2(COL6A1):c.1611+48C>T http://identifiers.org/clinvar/258290 ^@ NM_001848.2(COL6A1):c.1671C>T (p.Asp557=) http://identifiers.org/clinvar/258291 ^@ NM_001848.2(COL6A1):c.1674+15G>A http://identifiers.org/clinvar/258292 ^@ NM_001848.2(COL6A1):c.1674+46_1674+47dupCA http://identifiers.org/clinvar/258293 ^@ NM_001848.2(COL6A1):c.1776+13C>T http://identifiers.org/clinvar/258294 ^@ NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) http://identifiers.org/clinvar/258295 ^@ NM_001848.2(COL6A1):c.2464+11C>T http://identifiers.org/clinvar/258296 ^@ NM_001848.2(COL6A1):c.2464+18C>T http://identifiers.org/clinvar/258297 ^@ NM_001848.2(COL6A1):c.2480C>T (p.Pro827Leu) http://identifiers.org/clinvar/258298 ^@ NM_001848.2(COL6A1):c.2512G>A (p.Ala838Thr) http://identifiers.org/clinvar/258299 ^@ NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) http://identifiers.org/clinvar/258300 ^@ NM_001848.2(COL6A1):c.2874C>T (p.Ala958=) http://identifiers.org/clinvar/258332 ^@ NM_001849.3(COL6A2):c.402C>T (p.Thr134=) http://identifiers.org/clinvar/258333 ^@ NM_001849.3(COL6A2):c.528G>A (p.Gln176=) http://identifiers.org/clinvar/258334 ^@ NM_001849.3(COL6A2):c.802-45C>T http://identifiers.org/clinvar/258313 ^@ NM_001849.3(COL6A2):c.1116+39C>T http://identifiers.org/clinvar/258314 ^@ NM_001849.3(COL6A2):c.1269+32C>G http://identifiers.org/clinvar/258315 ^@ NM_001849.3(COL6A2):c.1269+32C>T http://identifiers.org/clinvar/258316 ^@ NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) http://identifiers.org/clinvar/258317 ^@ NM_001849.3(COL6A2):c.1609-46A>G http://identifiers.org/clinvar/258320 ^@ NM_001849.3(COL6A2):c.1672-45T>A http://identifiers.org/clinvar/258319 ^@ NM_001849.3(COL6A2):c.1672-25C>T http://identifiers.org/clinvar/258318 ^@ NM_001849.3(COL6A2):c.1672-12G>A http://identifiers.org/clinvar/258321 ^@ NM_001849.3(COL6A2):c.2031C>T (p.Asp677=) http://identifiers.org/clinvar/258322 ^@ NM_001849.3(COL6A2):c.2043C>T (p.Ile681=) http://identifiers.org/clinvar/258323 ^@ NM_001849.3(COL6A2):c.2200C>T (p.Arg734Cys) http://identifiers.org/clinvar/258325 ^@ NM_001849.3(COL6A2):c.2423-48C>T http://identifiers.org/clinvar/258324 ^@ NM_001849.3(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCC http://identifiers.org/clinvar/258326 ^@ NM_001849.3(COL6A2):c.2461+11G>A http://identifiers.org/clinvar/258327 ^@ NM_001849.3(COL6A2):c.2461+42G>A http://identifiers.org/clinvar/262301 ^@ NM_058174.2(COL6A2):c.2462-12G>A http://identifiers.org/clinvar/262302 ^@ NM_058174.2(COL6A2):c.2649C>T (p.Phe883=) http://identifiers.org/clinvar/262300 ^@ NM_058174.2(COL6A2):c.*5C>T http://identifiers.org/clinvar/258328 ^@ NM_001849.3(COL6A2):c.2462-12G>A http://identifiers.org/clinvar/258329 ^@ NM_001849.3(COL6A2):c.2499C>T (p.Asp833=) http://identifiers.org/clinvar/258330 ^@ NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln) http://identifiers.org/clinvar/258331 ^@ NM_001849.3(COL6A2):c.2607C>T (p.Asp869=) http://identifiers.org/clinvar/256031 ^@ NM_000407.4(GP1BB):c.399C>T (p.Ala133=) http://identifiers.org/clinvar/256785 ^@ NM_000754.3(COMT):c.186C>T (p.His62=) http://identifiers.org/clinvar/256786 ^@ NM_000754.3(COMT):c.408C>G (p.Leu136=) http://identifiers.org/clinvar/256784 ^@ NM_000754.3(COMT):c.*10dupC http://identifiers.org/clinvar/259228 ^@ NM_004076.4(CRYBB3):c.314G>A (p.Arg105Gln) http://identifiers.org/clinvar/259229 ^@ NM_004076.4(CRYBB3):c.337C>G (p.His113Asp) http://identifiers.org/clinvar/259230 ^@ NM_004076.4(CRYBB3):c.471-6C>T http://identifiers.org/clinvar/256281 ^@ NM_000496.2(CRYBB2):c.193G>T (p.Ala65Ser) http://identifiers.org/clinvar/256282 ^@ NM_000496.2(CRYBB2):c.449+9G>A http://identifiers.org/clinvar/256283 ^@ NM_000496.2(CRYBB2):c.483G>A (p.Gly161=) http://identifiers.org/clinvar/261535 ^@ NM_022081.5(HPS4):c.1962C>T (p.Ala654=) http://identifiers.org/clinvar/261534 ^@ NM_022081.5(HPS4):c.1956-32T>C http://identifiers.org/clinvar/261533 ^@ NM_022081.5(HPS4):c.1847-47A>G http://identifiers.org/clinvar/261532 ^@ NM_022081.5(HPS4):c.1060_1061delTCinsAG (p.Ser354=) http://identifiers.org/clinvar/261539 ^@ NM_022081.5(HPS4):c.710C>T (p.Ala237Val) http://identifiers.org/clinvar/261538 ^@ NM_022081.5(HPS4):c.707-28T>C http://identifiers.org/clinvar/261537 ^@ NM_022081.5(HPS4):c.706+39G>T http://identifiers.org/clinvar/261536 ^@ NM_022081.5(HPS4):c.42-49G>A http://identifiers.org/clinvar/258485 ^@ NM_001886.2(CRYBA4):c.106G>A (p.Val36Met) http://identifiers.org/clinvar/258486 ^@ NM_001886.2(CRYBA4):c.159-20A>G http://identifiers.org/clinvar/258487 ^@ NM_001886.2(CRYBA4):c.171T>C (p.Phe57=) http://identifiers.org/clinvar/258488 ^@ NM_001886.2(CRYBA4):c.300+3A>G http://identifiers.org/clinvar/258489 ^@ NM_001886.2(CRYBA4):c.444-18G>A http://identifiers.org/clinvar/262991 ^@ NM_181832.2(NF2):c.-18G>A http://identifiers.org/clinvar/262993 ^@ NM_181832.2(NF2):c.364-39A>C http://identifiers.org/clinvar/262994 ^@ NM_181832.2(NF2):c.448-17C>T http://identifiers.org/clinvar/262995 ^@ NM_181832.2(NF2):c.465C>T (p.Pro155=) http://identifiers.org/clinvar/262992 ^@ NM_181832.2(NF2):c.1470G>A (p.Pro490=) http://identifiers.org/clinvar/257662 ^@ NM_001242896.1(DEPDC5):c.364-10C>T http://identifiers.org/clinvar/257663 ^@ NM_001242896.1(DEPDC5):c.885A>G (p.Gln295=) http://identifiers.org/clinvar/257657 ^@ NM_001242896.1(DEPDC5):c.1095T>C (p.Asp365=) http://identifiers.org/clinvar/257658 ^@ NM_001242896.1(DEPDC5):c.1323A>C (p.Thr441=) http://identifiers.org/clinvar/257659 ^@ NM_001242896.1(DEPDC5):c.1922C>T (p.Ala641Val) http://identifiers.org/clinvar/257660 ^@ NM_001242896.1(DEPDC5):c.2170+11G>A http://identifiers.org/clinvar/257661 ^@ NM_001242896.1(DEPDC5):c.3358A>G (p.Met1120Val) http://identifiers.org/clinvar/257656 ^@ NM_001242896.1(DEPDC5):c.*14_*15insAGGGTTAGAAGGCTGCACC http://identifiers.org/clinvar/255943 ^@ NM_000362.4(TIMP3):c.249T>C (p.His83=) http://identifiers.org/clinvar/259532 ^@ NM_004737.5(LARGE1):c.2073+12G>T http://identifiers.org/clinvar/259530 ^@ NM_004737.5(LARGE1):c.1611G>A (p.Glu537=) http://identifiers.org/clinvar/259529 ^@ NM_004737.5(LARGE1):c.1451+38C>T http://identifiers.org/clinvar/259536 ^@ NM_004737.5(LARGE1):c.788-29A>G http://identifiers.org/clinvar/259534 ^@ NM_004737.5(LARGE1):c.409-19C>T http://identifiers.org/clinvar/259535 ^@ NM_004737.5(LARGE1):c.409-21C>T http://identifiers.org/clinvar/259533 ^@ NM_004737.5(LARGE1):c.408+7G>A http://identifiers.org/clinvar/259531 ^@ NM_004737.5(LARGE1):c.16A>C (p.Arg6=) http://identifiers.org/clinvar/258761 ^@ NM_002473.5(MYH9):c.5817C>T (p.Ala1939=) http://identifiers.org/clinvar/258760 ^@ NM_002473.5(MYH9):c.5766-5C>T http://identifiers.org/clinvar/258759 ^@ NM_002473.5(MYH9):c.5765+7C>T http://identifiers.org/clinvar/258758 ^@ NM_002473.5(MYH9):c.5709C>T (p.Ala1903=) http://identifiers.org/clinvar/258757 ^@ NM_002473.5(MYH9):c.5484-36G>A http://identifiers.org/clinvar/258755 ^@ NM_002473.5(MYH9):c.5277C>T (p.Ile1759=) http://identifiers.org/clinvar/258754 ^@ NM_002473.5(MYH9):c.5247C>T (p.Asn1749=) http://identifiers.org/clinvar/258752 ^@ NM_002473.5(MYH9):c.5136C>T (p.Asn1712=) http://identifiers.org/clinvar/258751 ^@ NM_002473.5(MYH9):c.5061+30C>T http://identifiers.org/clinvar/258749 ^@ NM_002473.5(MYH9):c.4276C>T (p.Leu1426=) http://identifiers.org/clinvar/258748 ^@ NM_002473.5(MYH9):c.3942+11C>T http://identifiers.org/clinvar/258747 ^@ NM_002473.5(MYH9):c.3876C>T (p.Ser1292=) http://identifiers.org/clinvar/258746 ^@ NM_002473.5(MYH9):c.3837+37G>A http://identifiers.org/clinvar/258745 ^@ NM_002473.5(MYH9):c.3837+25C>T http://identifiers.org/clinvar/258744 ^@ NM_002473.5(MYH9):c.3837+18A>G http://identifiers.org/clinvar/258742 ^@ NM_002473.5(MYH9):c.3486-31G>C http://identifiers.org/clinvar/258743 ^@ NM_002473.5(MYH9):c.3486-32G>A http://identifiers.org/clinvar/258741 ^@ NM_002473.5(MYH9):c.3273-25C>T http://identifiers.org/clinvar/258740 ^@ NM_002473.5(MYH9):c.3272+11C>T http://identifiers.org/clinvar/258739 ^@ NM_002473.5(MYH9):c.3101-5T>C http://identifiers.org/clinvar/258738 ^@ NM_002473.5(MYH9):c.2977-35C>G http://identifiers.org/clinvar/258737 ^@ NM_002473.5(MYH9):c.2871C>T (p.Ser957=) http://identifiers.org/clinvar/258736 ^@ NM_002473.5(MYH9):c.2808G>A (p.Ala936=) http://identifiers.org/clinvar/258735 ^@ NM_002473.5(MYH9):c.2205C>T (p.Asp735=) http://identifiers.org/clinvar/258734 ^@ NM_002473.5(MYH9):c.2160-37A>T http://identifiers.org/clinvar/258733 ^@ NM_002473.5(MYH9):c.2159+39C>A http://identifiers.org/clinvar/258732 ^@ NM_002473.5(MYH9):c.2037+43G>T http://identifiers.org/clinvar/258731 ^@ NM_002473.5(MYH9):c.1728+47G>T http://identifiers.org/clinvar/258730 ^@ NM_002473.5(MYH9):c.1728+37_1728+44delTCACAGGA http://identifiers.org/clinvar/258728 ^@ NM_002473.5(MYH9):c.1344C>T (p.Ile448=) http://identifiers.org/clinvar/258727 ^@ NM_002473.5(MYH9):c.1228-16C>T http://identifiers.org/clinvar/258726 ^@ NM_002473.5(MYH9):c.1149C>T (p.Thr383=) http://identifiers.org/clinvar/258725 ^@ NM_002473.5(MYH9):c.1108+38G>A http://identifiers.org/clinvar/258724 ^@ NM_002473.5(MYH9):c.1108+19C>T http://identifiers.org/clinvar/258767 ^@ NM_002473.5(MYH9):c.769+30C>A http://identifiers.org/clinvar/258766 ^@ NM_002473.5(MYH9):c.769+15C>G http://identifiers.org/clinvar/258765 ^@ NM_002473.5(MYH9):c.720C>T (p.Arg240=) http://identifiers.org/clinvar/258764 ^@ NM_002473.5(MYH9):c.705+15G>A http://identifiers.org/clinvar/258763 ^@ NM_002473.5(MYH9):c.645C>T (p.Asn215=) http://identifiers.org/clinvar/258762 ^@ NM_002473.5(MYH9):c.613-32C>T http://identifiers.org/clinvar/258756 ^@ NM_002473.5(MYH9):c.543G>A (p.Thr181=) http://identifiers.org/clinvar/258753 ^@ NM_002473.5(MYH9):c.518+23A>G http://identifiers.org/clinvar/258750 ^@ NM_002473.5(MYH9):c.450C>T (p.Ile150=) http://identifiers.org/clinvar/258729 ^@ NM_002473.5(MYH9):c.165C>T (p.Ile55=) http://identifiers.org/clinvar/260306 ^@ NM_013416.3(NCF4):c.69G>A (p.Ser23=) http://identifiers.org/clinvar/260304 ^@ NM_013416.3(NCF4):c.528+18G>C http://identifiers.org/clinvar/260305 ^@ NM_013416.3(NCF4):c.628-14C>A http://identifiers.org/clinvar/260307 ^@ NM_013416.3(NCF4):c.735C>T (p.Tyr245=) http://identifiers.org/clinvar/260308 ^@ NM_013416.3(NCF4):c.815T>C (p.Leu272Pro) http://identifiers.org/clinvar/260303 ^@ NM_013416.3(NCF4):c.*95G>A http://identifiers.org/clinvar/262727 ^@ NM_153609.3(TMPRSS6):c.2383G>A (p.Val795Ile) http://identifiers.org/clinvar/262726 ^@ NM_153609.3(TMPRSS6):c.2217C>T (p.Tyr739=) http://identifiers.org/clinvar/262725 ^@ NM_153609.3(TMPRSS6):c.2207T>C (p.Val736Ala) http://identifiers.org/clinvar/262724 ^@ NM_153609.3(TMPRSS6):c.1869-6_1869-2delCCCCA http://identifiers.org/clinvar/262722 ^@ NM_153609.3(TMPRSS6):c.1563C>T (p.Asp521=) http://identifiers.org/clinvar/262721 ^@ NM_153609.3(TMPRSS6):c.1468+10C>T http://identifiers.org/clinvar/262720 ^@ NM_153609.3(TMPRSS6):c.1254C>T (p.Tyr418=) http://identifiers.org/clinvar/262719 ^@ NM_153609.3(TMPRSS6):c.1083G>A (p.Ser361=) http://identifiers.org/clinvar/262728 ^@ NM_153609.3(TMPRSS6):c.757A>G (p.Lys253Glu) http://identifiers.org/clinvar/262729 ^@ NM_153609.3(TMPRSS6):c.99G>A (p.Pro33=) http://identifiers.org/clinvar/262723 ^@ NM_153609.3(TMPRSS6):c.15C>T (p.Phe5=) http://identifiers.org/clinvar/257221 ^@ NM_001039141.2(TRIOBP):c.4419G>A (p.Pro1473=) http://identifiers.org/clinvar/257222 ^@ NM_001039141.2(TRIOBP):c.5764C>T (p.Arg1922Trp) http://identifiers.org/clinvar/257223 ^@ NM_001039141.2(TRIOBP):c.6472+14G>T http://identifiers.org/clinvar/257224 ^@ NM_001039141.2(TRIOBP):c.6472+15_6472+16insC http://identifiers.org/clinvar/257225 ^@ NM_001039141.2(TRIOBP):c.6472+19dupG http://identifiers.org/clinvar/254723 ^@ NM_000026.3(ADSL):c.270T>C (p.Ala90=) http://identifiers.org/clinvar/258098 ^@ NM_001429.3(EP300):c.95-16T>C http://identifiers.org/clinvar/258094 ^@ NM_001429.3(EP300):c.1168+18G>A http://identifiers.org/clinvar/258095 ^@ NM_001429.3(EP300):c.2359G>A (p.Gly787Ser) http://identifiers.org/clinvar/258096 ^@ NM_001429.3(EP300):c.5440C>A (p.Arg1814=) http://identifiers.org/clinvar/258097 ^@ NM_001429.3(EP300):c.6660A>G (p.Pro2220=) http://identifiers.org/clinvar/257431 ^@ NM_001098.2(ACO2):c.72A>G (p.Ser24=) http://identifiers.org/clinvar/257432 ^@ NM_001098.2(ACO2):c.84A>G (p.Gln28=) http://identifiers.org/clinvar/257430 ^@ NM_001098.2(ACO2):c.546G>T (p.Ala182=) http://identifiers.org/clinvar/257429 ^@ NM_001098.2(ACO2):c.1953+16T>C http://identifiers.org/clinvar/256011 ^@ NM_000398.6(CYB5R3):c.132G>A (p.Pro44=) http://identifiers.org/clinvar/256012 ^@ NM_000398.6(CYB5R3):c.22-18C>A http://identifiers.org/clinvar/261688 ^@ NM_024105.3(ALG12):c.768+42T>C http://identifiers.org/clinvar/261687 ^@ NM_024105.3(ALG12):c.664+27T>G http://identifiers.org/clinvar/261686 ^@ NM_024105.3(ALG12):c.469+13C>T http://identifiers.org/clinvar/262456 ^@ NM_139202.2(MLC1):c.*48A>G http://identifiers.org/clinvar/260572 ^@ NM_015166.3(MLC1):c.*45A>G http://identifiers.org/clinvar/262463 ^@ NM_139202.2(MLC1):c.979G>A (p.Val327Met) http://identifiers.org/clinvar/262462 ^@ NM_139202.2(MLC1):c.932T>A (p.Val311Glu) http://identifiers.org/clinvar/262461 ^@ NM_139202.2(MLC1):c.895-23C>T http://identifiers.org/clinvar/262459 ^@ NM_139202.2(MLC1):c.772-34G>A http://identifiers.org/clinvar/262460 ^@ NM_139202.2(MLC1):c.772-35C>T http://identifiers.org/clinvar/262458 ^@ NM_139202.2(MLC1):c.714+28G>A http://identifiers.org/clinvar/260574 ^@ NM_015166.3(MLC1):c.525+22G>A http://identifiers.org/clinvar/260573 ^@ NM_015166.3(MLC1):c.321+50T>C http://identifiers.org/clinvar/262457 ^@ NM_139202.2(MLC1):c.216G>A (p.Leu72=) http://identifiers.org/clinvar/258881 ^@ NM_002972.3(SBF1):c.5559T>C (p.Thr1853=) http://identifiers.org/clinvar/258880 ^@ NM_002972.3(SBF1):c.5452-13_5452-12delTG http://identifiers.org/clinvar/258879 ^@ NM_002972.3(SBF1):c.3987G>A (p.Ala1329=) http://identifiers.org/clinvar/258496 ^@ NM_001953.4(TYMP):c.516+4C>T http://identifiers.org/clinvar/259661 ^@ NM_005198.4(CHKB):c.670A>C (p.Asn224His) http://identifiers.org/clinvar/259660 ^@ NM_005198.4(CHKB):c.582-13_582-11delCTT http://identifiers.org/clinvar/259659 ^@ NM_005198.4(CHKB):c.457T>C (p.Leu153=) http://identifiers.org/clinvar/256246 ^@ NM_000487.5(ARSA):c.624T>C (p.His208=) http://identifiers.org/clinvar/256245 ^@ NM_000487.5(ARSA):c.466-18G>A http://identifiers.org/clinvar/254784 ^@ NM_000061.2(BTK):c.1899C>T (p.Cys633=) http://identifiers.org/clinvar/256377 ^@ NM_000533.4(PLP1):c.622+15G>A http://identifiers.org/clinvar/258280 ^@ NM_001847.3(COL4A6):c.4815+8C>T http://identifiers.org/clinvar/258279 ^@ NM_001847.3(COL4A6):c.4528+14C>G http://identifiers.org/clinvar/258278 ^@ NM_001847.3(COL4A6):c.4085T>C (p.Leu1362Pro) http://identifiers.org/clinvar/258277 ^@ NM_001847.3(COL4A6):c.3858G>A (p.Ser1286=) http://identifiers.org/clinvar/258276 ^@ NM_001847.3(COL4A6):c.3763G>T (p.Ala1255Ser) http://identifiers.org/clinvar/258275 ^@ NM_001847.3(COL4A6):c.3484A>G (p.Ile1162Val) http://identifiers.org/clinvar/258274 ^@ NM_001847.3(COL4A6):c.3405C>T (p.Ala1135=) http://identifiers.org/clinvar/258273 ^@ NM_001847.3(COL4A6):c.3376C>T (p.Pro1126Ser) http://identifiers.org/clinvar/258272 ^@ NM_001847.3(COL4A6):c.3142-4G>A http://identifiers.org/clinvar/258271 ^@ NM_001847.3(COL4A6):c.3081C>T (p.Gly1027=) http://identifiers.org/clinvar/258270 ^@ NM_001847.3(COL4A6):c.2811T>C (p.Arg937=) http://identifiers.org/clinvar/258269 ^@ NM_001847.3(COL4A6):c.2135-6G>T http://identifiers.org/clinvar/258268 ^@ NM_001847.3(COL4A6):c.2135-6G>A http://identifiers.org/clinvar/258267 ^@ NM_001847.3(COL4A6):c.1363T>C (p.Ser455Pro) http://identifiers.org/clinvar/258281 ^@ NM_001847.3(COL4A6):c.607T>C (p.Leu203=) http://identifiers.org/clinvar/256277 ^@ NM_000495.4(COL4A5):c.1289C>A (p.Ala430Asp) http://identifiers.org/clinvar/256278 ^@ NM_000495.4(COL4A5):c.3107-11A>T http://identifiers.org/clinvar/256279 ^@ NM_000495.4(COL4A5):c.3426C>T (p.Pro1142=) http://identifiers.org/clinvar/256280 ^@ NM_000495.4(COL4A5):c.3519T>G (p.Gly1173=) http://identifiers.org/clinvar/257558 ^@ NM_001143981.1(CHRDL1):c.954A>G (p.Lys318=) http://identifiers.org/clinvar/262927 ^@ NM_178153.2(DCX):c.932-46T>C http://identifiers.org/clinvar/262926 ^@ NM_178153.2(DCX):c.705+48A>G http://identifiers.org/clinvar/262925 ^@ NM_178153.2(DCX):c.705+29G>A http://identifiers.org/clinvar/262997 ^@ NM_182680.1(AMELX):c.261C>T (p.His87=) http://identifiers.org/clinvar/257589 ^@ NM_001167.3(XIAP):c.1268A>C (p.Gln423Pro) http://identifiers.org/clinvar/257592 ^@ NM_001170961.1(IGSF1):c.3594C>T (p.Val1198=) http://identifiers.org/clinvar/257591 ^@ NM_001170961.1(IGSF1):c.2571T>C (p.Tyr857=) http://identifiers.org/clinvar/257590 ^@ NM_001170961.1(IGSF1):c.1347A>G (p.Glu449=) http://identifiers.org/clinvar/257593 ^@ NM_001170961.1(IGSF1):c.948G>A (p.Val316=) http://identifiers.org/clinvar/263088 ^@ NM_194277.2(FRMD7):c.1533T>C (p.Ile511=) http://identifiers.org/clinvar/263087 ^@ NM_194277.2(FRMD7):c.1403G>A (p.Arg468His) http://identifiers.org/clinvar/263086 ^@ NM_194277.2(FRMD7):c.1101T>C (p.Asn367=) http://identifiers.org/clinvar/263090 ^@ NM_194277.2(FRMD7):c.842C>T (p.Ser281Leu) http://identifiers.org/clinvar/263089 ^@ NM_194277.2(FRMD7):c.69C>T (p.Ser23=) http://identifiers.org/clinvar/259405 ^@ NM_004484.3(GPC3):c.1500T>C (p.Asp500=) http://identifiers.org/clinvar/259406 ^@ NM_004484.3(GPC3):c.176-40G>C http://identifiers.org/clinvar/259100 ^@ NM_003611.2(OFD1):c.517+20T>C http://identifiers.org/clinvar/259101 ^@ NM_003611.2(OFD1):c.675C>G (p.Thr225=) http://identifiers.org/clinvar/259094 ^@ NM_003611.2(OFD1):c.1130-5_1130-4delTT http://identifiers.org/clinvar/259047 ^@ NM_003413.3(ZIC3):c.159_161dupCGC (p.Ala55_Phe56insAla) http://identifiers.org/clinvar/259048 ^@ NM_003413.3(ZIC3):c.630C>T (p.Tyr210=) http://identifiers.org/clinvar/259049 ^@ NM_003413.3(ZIC3):c.783G>A (p.Leu261=) http://identifiers.org/clinvar/259095 ^@ NM_003611.2(OFD1):c.1543-19C>G http://identifiers.org/clinvar/259096 ^@ NM_003611.2(OFD1):c.1654+14T>A http://identifiers.org/clinvar/259097 ^@ NM_003611.2(OFD1):c.2260+8A>G http://identifiers.org/clinvar/259098 ^@ NM_003611.2(OFD1):c.2929-18C>T http://identifiers.org/clinvar/259099 ^@ NM_003611.2(OFD1):c.2996+25C>G http://identifiers.org/clinvar/255227 ^@ NM_000133.3(F9):c.839-20dupA http://identifiers.org/clinvar/255226 ^@ NM_000133.3(F9):c.1032C>T (p.Ile344=) http://identifiers.org/clinvar/257062 ^@ NM_001018113.2(FANCB):c.1004G>A (p.Gly335Glu) http://identifiers.org/clinvar/255621 ^@ NM_000252.2(MTM1):c.1260+17A>G http://identifiers.org/clinvar/256048 ^@ NM_000425.4(L1CAM):c.3458-34C>T http://identifiers.org/clinvar/256047 ^@ NM_000425.4(L1CAM):c.3322+19G>A http://identifiers.org/clinvar/256045 ^@ NM_000425.4(L1CAM):c.1704-34G>C http://identifiers.org/clinvar/256049 ^@ NM_000425.4(L1CAM):c.992-32C>T http://identifiers.org/clinvar/256046 ^@ NM_000425.4(L1CAM):c.294G>A (p.Thr98=) http://identifiers.org/clinvar/254771 ^@ NM_000054.4(AVPR2):c.12G>A (p.Ala4=) http://identifiers.org/clinvar/254772 ^@ NM_000054.4(AVPR2):c.26-6T>G http://identifiers.org/clinvar/254773 ^@ NM_000054.4(AVPR2):c.35G>A (p.Gly12Glu) http://identifiers.org/clinvar/254774 ^@ NM_000054.4(AVPR2):c.440C>T (p.Ala147Val) http://identifiers.org/clinvar/254775 ^@ NM_000054.4(AVPR2):c.927A>G (p.Leu309=) http://identifiers.org/clinvar/254776 ^@ NM_000054.4(AVPR2):c.993C>T (p.Ser331=) http://identifiers.org/clinvar/259602 ^@ NM_004992.3(MECP2):c.54C>A (p.Leu18=) http://identifiers.org/clinvar/257472 ^@ NM_001110556.1(FLNA):c.2023-4C>G http://identifiers.org/clinvar/257473 ^@ NM_001110556.1(FLNA):c.543G>A (p.Pro181=) http://identifiers.org/clinvar/255225 ^@ NM_000132.3(F8):c.6381T>C (p.Asp2127=) http://identifiers.org/clinvar/255224 ^@ NM_000132.3(F8):c.5219+12T>C http://identifiers.org/clinvar/255223 ^@ NM_000132.3(F8):c.4500G>A (p.Pro1500=) http://identifiers.org/clinvar/255222 ^@ NM_000132.3(F8):c.2214C>T (p.Tyr738=) http://identifiers.org/clinvar/258978 ^@ NM_003159.2(CDKL5):c.2445C>T (p.Ser815=) http://identifiers.org/clinvar/258979 ^@ NM_003159.2(CDKL5):c.2466C>G (p.Arg822=) http://identifiers.org/clinvar/255841 ^@ NM_000330.3(RS1):c.597C>A (p.Ile199=) http://identifiers.org/clinvar/255840 ^@ NM_000330.3(RS1):c.576C>T (p.Pro192=) http://identifiers.org/clinvar/255777 ^@ NM_000292.2(PHKA2):c.3705A>G (p.Gln1235=) http://identifiers.org/clinvar/255776 ^@ NM_000292.2(PHKA2):c.3027+48C>A http://identifiers.org/clinvar/255775 ^@ NM_000292.2(PHKA2):c.2807-46G>A http://identifiers.org/clinvar/255774 ^@ NM_000292.2(PHKA2):c.2532G>A (p.Leu844=) http://identifiers.org/clinvar/255773 ^@ NM_000292.2(PHKA2):c.2436G>A (p.Gly812=) http://identifiers.org/clinvar/255772 ^@ NM_000292.2(PHKA2):c.2361-12A>C http://identifiers.org/clinvar/255771 ^@ NM_000292.2(PHKA2):c.2077A>G (p.Ile693Val) http://identifiers.org/clinvar/255770 ^@ NM_000292.2(PHKA2):c.1952C>A (p.Thr651Asn) http://identifiers.org/clinvar/255769 ^@ NM_000292.2(PHKA2):c.1758T>C (p.Ile586=) http://identifiers.org/clinvar/255779 ^@ NM_000292.2(PHKA2):c.849T>A (p.Ile283=) http://identifiers.org/clinvar/255778 ^@ NM_000292.2(PHKA2):c.718-3C>T http://identifiers.org/clinvar/255768 ^@ NM_000292.2(PHKA2):c.112G>C (p.Glu38Gln) http://identifiers.org/clinvar/256167 ^@ NM_000444.5(PHEX):c.1769-10C>T http://identifiers.org/clinvar/254741 ^@ NM_000047.2(ARSE):c.-8_-5delGAGA http://identifiers.org/clinvar/256225 ^@ NM_000475.4(NR0B1):c.498G>A (p.Arg166=) http://identifiers.org/clinvar/256224 ^@ NM_000475.4(NR0B1):c.114C>T (p.Cys38=) http://identifiers.org/clinvar/259218 ^@ NM_004006.2(DMD):c.8926G>A (p.Glu2976Lys) http://identifiers.org/clinvar/259217 ^@ NM_004006.2(DMD):c.8847G>A (p.Lys2949=) http://identifiers.org/clinvar/259216 ^@ NM_004006.2(DMD):c.6132T>C (p.Ser2044=) http://identifiers.org/clinvar/259215 ^@ NM_004006.2(DMD):c.3567T>A (p.Thr1189=) http://identifiers.org/clinvar/259219 ^@ NM_004006.2(DMD):c.960+9A>G http://identifiers.org/clinvar/255835 ^@ NM_000328.2(RPGR):c.2302C>A (p.Pro768Thr) http://identifiers.org/clinvar/255834 ^@ NM_000328.2(RPGR):c.2149+46C>T http://identifiers.org/clinvar/257196 ^@ NM_001034853.1(RPGR):c.2667_2669delGGA (p.Glu890del) http://identifiers.org/clinvar/257194 ^@ NM_001034853.1(RPGR):c.2541_2561dup21 (p.Gly856_Lys857insGluGluGluGluGlyGluGly) http://identifiers.org/clinvar/257195 ^@ NM_001034853.1(RPGR):c.2541G>A (p.Gly847=) http://identifiers.org/clinvar/257193 ^@ NM_001034853.1(RPGR):c.2341G>A (p.Ala781Thr) http://identifiers.org/clinvar/257192 ^@ NM_001034853.1(RPGR):c.2223G>A (p.Glu741=) http://identifiers.org/clinvar/255832 ^@ NM_000328.2(RPGR):c.1296A>T (p.Glu432Asp) http://identifiers.org/clinvar/255831 ^@ NM_000328.2(RPGR):c.1245+6A>G http://identifiers.org/clinvar/255830 ^@ NM_000328.2(RPGR):c.1200T>C (p.Asn400=) http://identifiers.org/clinvar/255829 ^@ NM_000328.2(RPGR):c.1084G>A (p.Val362Ile) http://identifiers.org/clinvar/257191 ^@ NM_001034853.1(RPGR):c.1059+25T>C http://identifiers.org/clinvar/255828 ^@ NM_000328.2(RPGR):c.1059+6G>A http://identifiers.org/clinvar/255837 ^@ NM_000328.2(RPGR):c.905G>C (p.Cys302Ser) http://identifiers.org/clinvar/255836 ^@ NM_000328.2(RPGR):c.552G>T (p.Gln184His) http://identifiers.org/clinvar/255833 ^@ NM_000328.2(RPGR):c.155-13delT http://identifiers.org/clinvar/256369 ^@ NM_000531.5(OTC):c.299-34dupT http://identifiers.org/clinvar/256368 ^@ NM_000531.5(OTC):c.299-18C>T http://identifiers.org/clinvar/256370 ^@ NM_000531.5(OTC):c.429T>C (p.Tyr143=) http://identifiers.org/clinvar/256371 ^@ NM_000531.5(OTC):c.663+50A>G http://identifiers.org/clinvar/256372 ^@ NM_000531.5(OTC):c.867+35T>G http://identifiers.org/clinvar/257506 ^@ NM_001123383.1(BCOR):c.978G>A (p.Pro326=) http://identifiers.org/clinvar/255688 ^@ NM_000266.3(NDP):c.*715T>C http://identifiers.org/clinvar/261407 ^@ NM_021140.3(KDM6A):c.624A>G (p.Gln208=) http://identifiers.org/clinvar/261406 ^@ NM_021140.3(KDM6A):c.1527+3G>A http://identifiers.org/clinvar/261405 ^@ NM_021140.3(KDM6A):c.1741A>G (p.Thr581Ala) http://identifiers.org/clinvar/260003 ^@ NM_006579.2(EBP):c.301+5G>C http://identifiers.org/clinvar/255963 ^@ NM_000377.2(WAS):c.210G>A (p.Gly70=) http://identifiers.org/clinvar/255964 ^@ NM_000377.2(WAS):c.273+11dupC http://identifiers.org/clinvar/255965 ^@ NM_000377.2(WAS):c.873C>T (p.Tyr291=) http://identifiers.org/clinvar/255962 ^@ NM_000377.2(WAS):c.1453+16C>T http://identifiers.org/clinvar/258540 ^@ NM_002049.3(GATA1):c.-19-5C>T http://identifiers.org/clinvar/258542 ^@ NM_002049.3(GATA1):c.174G>A (p.Ala58=) http://identifiers.org/clinvar/258541 ^@ NM_002049.3(GATA1):c.1173G>A (p.Thr391=) http://identifiers.org/clinvar/259657 ^@ NM_005183.3(CACNA1F):c.1903G>A (p.Val635Ile) http://identifiers.org/clinvar/260313 ^@ NM_014009.3(FOXP3):c.*673G>A http://identifiers.org/clinvar/259774 ^@ NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) http://identifiers.org/clinvar/259775 ^@ NM_005448.2(BMP15):c.786_788dupTCT (p.Leu263_Arg264insLeu) http://identifiers.org/clinvar/259776 ^@ NM_005448.2(BMP15):c.819A>C (p.Ser273=) http://identifiers.org/clinvar/259777 ^@ NM_005448.2(BMP15):c.852C>T (p.Ser284=) http://identifiers.org/clinvar/259773 ^@ NM_005448.2(BMP15):c.*13G>A http://identifiers.org/clinvar/259962 ^@ NM_006306.3(SMC1A):c.2973+45G>A http://identifiers.org/clinvar/259963 ^@ NM_006306.3(SMC1A):c.298+12T>C http://identifiers.org/clinvar/259403 ^@ NM_004463.2(FGD1):c.2015+48G>C http://identifiers.org/clinvar/259402 ^@ NM_004463.2(FGD1):c.1636+21C>T http://identifiers.org/clinvar/259404 ^@ NM_004463.2(FGD1):c.659+27T>C http://identifiers.org/clinvar/254728 ^@ NM_000032.4(ALAS2):c.1563C>T (p.Ser521=) http://identifiers.org/clinvar/260311 ^@ NM_013444.3(UBQLN2):c.1461C>A (p.Thr487=) http://identifiers.org/clinvar/254737 ^@ NM_000044.4(AR):c.639G>A (p.Glu213=) http://identifiers.org/clinvar/254735 ^@ NM_000044.4(AR):c.1746C>T (p.Val582=) http://identifiers.org/clinvar/254736 ^@ NM_000044.4(AR):c.1886-60G>A http://identifiers.org/clinvar/258088 ^@ NM_001399.4(EDA):c.381C>T (p.Ser127=) http://identifiers.org/clinvar/259633 ^@ NM_005120.2(MED12):c.205-38C>T http://identifiers.org/clinvar/259634 ^@ NM_005120.2(MED12):c.2422+30C>T http://identifiers.org/clinvar/259635 ^@ NM_005120.2(MED12):c.3354+26A>G http://identifiers.org/clinvar/259636 ^@ NM_005120.2(MED12):c.3354+27G>C http://identifiers.org/clinvar/259637 ^@ NM_005120.2(MED12):c.4415+29T>C http://identifiers.org/clinvar/259638 ^@ NM_005120.2(MED12):c.4416-48T>C http://identifiers.org/clinvar/259639 ^@ NM_005120.2(MED12):c.5401-25C>T http://identifiers.org/clinvar/259640 ^@ NM_005120.2(MED12):c.6045-24C>T http://identifiers.org/clinvar/255410 ^@ NM_001097642.2(GJB1):c.-16-697G>A http://identifiers.org/clinvar/258784 ^@ NM_002637.3(PHKA1):c.2462G>A (p.Arg821His) http://identifiers.org/clinvar/258783 ^@ NM_002637.3(PHKA1):c.1794-13_1794-11delCTC http://identifiers.org/clinvar/258782 ^@ NM_002637.3(PHKA1):c.1324+15dupT http://identifiers.org/clinvar/258786 ^@ NM_002637.3(PHKA1):c.538-25T>C http://identifiers.org/clinvar/258785 ^@ NM_002637.3(PHKA1):c.429C>T (p.Leu143=) http://identifiers.org/clinvar/254755 ^@ NM_000052.6(ATP7A):c.2131G>C (p.Val711Leu) http://identifiers.org/clinvar/254756 ^@ NM_000052.6(ATP7A):c.2407-184G>T http://identifiers.org/clinvar/254757 ^@ NM_000052.6(ATP7A):c.2782-29C>A http://identifiers.org/clinvar/254758 ^@ NM_000052.6(ATP7A):c.2916+2402delT http://identifiers.org/clinvar/255564 ^@ NM_000216.3(ANOS1):c.1833C>T (p.Ile611=) http://identifiers.org/clinvar/255563 ^@ NM_000216.3(ANOS1):c.1600G>A (p.Val534Ile) http://identifiers.org/clinvar/255991 ^@ NM_000390.3(CHM):c.351A>G (p.Ala117=) http://identifiers.org/clinvar/255710 ^@ NM_000273.2(GPR143):c.1120+16C>T http://identifiers.org/clinvar/255712 ^@ NM_000273.2(GPR143):c.767+10C>G http://identifiers.org/clinvar/255711 ^@ NM_000273.2(GPR143):c.456-9G>C http://identifiers.org/clinvar/258964 ^@ NM_003140.2(SRY):c.*13A>G http://identifiers.org/clinvar/256191 ^@ NM_000451.3(SHOX):c.*16_*26dupCCCGCGCGCCC http://identifiers.org/clinvar/256192 ^@ NM_000451.3(SHOX):c.120G>A (p.Glu40=) http://identifiers.org/clinvar/256193 ^@ NM_000451.3(SHOX):c.273A>T (p.Ala91=) http://identifiers.org/clinvar/256194 ^@ NM_000451.3(SHOX):c.278-15C>A http://identifiers.org/clinvar/264072 ^@ NM_004980.4(KCND3):c.855C>G (p.Ala285=) http://identifiers.org/clinvar/264530 ^@ NM_004980.4(KCND3):c.1646G>A (p.Arg549His) http://identifiers.org/clinvar/264292 ^@ NM_000302.3(PLOD1):c.30G>C (p.Leu10=) http://identifiers.org/clinvar/264381 ^@ NM_000302.3(PLOD1):c.95C>T (p.Thr32Met) http://identifiers.org/clinvar/263887 ^@ NM_000302.3(PLOD1):c.177C>T (p.Gly59=) http://identifiers.org/clinvar/264148 ^@ NM_004980.4(KCND3):c.627G>C (p.Thr209=) http://identifiers.org/clinvar/263938 ^@ NM_000302.3(PLOD1):c.250G>A (p.Ala84Thr) http://identifiers.org/clinvar/263963 ^@ NM_000302.3(PLOD1):c.555G>T (p.Lys185Asn) http://identifiers.org/clinvar/264618 ^@ NM_000302.3(PLOD1):c.265G>T (p.Ala89Ser) http://identifiers.org/clinvar/263947 ^@ NM_000302.3(PLOD1):c.936C>T (p.His312=) http://identifiers.org/clinvar/263885 ^@ NM_000302.3(PLOD1):c.1141G>A (p.Val381Met) http://identifiers.org/clinvar/264138 ^@ NM_000302.3(PLOD1):c.1685C>T (p.Thr562Met) http://identifiers.org/clinvar/264119 ^@ NM_000302.3(PLOD1):c.404_423del20 (p.Asp135Valfs) http://identifiers.org/clinvar/264284 ^@ NM_000302.3(PLOD1):c.804C>T (p.Thr268=) http://identifiers.org/clinvar/264103 ^@ NM_000302.3(PLOD1):c.1140C>T (p.Ser380=) http://identifiers.org/clinvar/263957 ^@ NM_000302.3(PLOD1):c.1927G>A (p.Val643Ile) http://identifiers.org/clinvar/263718 ^@ NM_005572.3(LMNA):c.111G>A (p.Glu37=) http://identifiers.org/clinvar/263889 ^@ NM_000302.3(PLOD1):c.2133C>G (p.Leu711=) http://identifiers.org/clinvar/263892 ^@ NM_000302.3(PLOD1):c.1788G>T (p.Val596=) http://identifiers.org/clinvar/264283 ^@ NM_000302.3(PLOD1):c.1299C>T (p.Asp433=) http://identifiers.org/clinvar/264626 ^@ NM_170707.3(LMNA):c.658C>T (p.Arg220Cys) http://identifiers.org/clinvar/263886 ^@ NM_000302.3(PLOD1):c.2124T>C (p.His708=) http://identifiers.org/clinvar/263601 ^@ NM_005572.3(LMNA):c.1566C>A (p.Cys522Ter) http://identifiers.org/clinvar/263426 ^@ NM_005572.3(LMNA):c.207G>C (p.Val69=) http://identifiers.org/clinvar/264073 ^@ NM_170707.3(LMNA):c.1426G>T (p.Asp476Tyr) http://identifiers.org/clinvar/264128 ^@ NM_001001430.2(TNNT2):c.208T>C (p.Phe70Leu) http://identifiers.org/clinvar/264271 ^@ NM_170707.3(LMNA):c.1157G>C (p.Arg386Thr) http://identifiers.org/clinvar/264318 ^@ NM_001001430.2(TNNT2):c.279G>T (p.Lys93Asn) http://identifiers.org/clinvar/263454 ^@ NM_170707.3(LMNA):c.1890G>C (p.Gly630=) http://identifiers.org/clinvar/264177 ^@ NM_000302.3(PLOD1):c.2181C>T (p.Pro727=) http://identifiers.org/clinvar/263661 ^@ NM_005572.3(LMNA):c.927C>A (p.Leu309=) http://identifiers.org/clinvar/263973 ^@ NM_170707.3(LMNA):c.1637C>T (p.Ser546Leu) http://identifiers.org/clinvar/263896 ^@ NM_001135599.3(TGFB2):c.877A>G (p.Lys293Glu) http://identifiers.org/clinvar/264471 ^@ NM_003036.3(SKI):c.249_251dupGCC (p.Pro84_Val85insPro) http://identifiers.org/clinvar/264449 ^@ NM_003238.4(TGFB2):c.588C>T (p.Gly196=) http://identifiers.org/clinvar/264417 ^@ NM_003036.3(SKI):c.311T>C (p.Val104Ala) http://identifiers.org/clinvar/264172 ^@ NM_003036.3(SKI):c.625C>A (p.Leu209Met) http://identifiers.org/clinvar/264423 ^@ NM_003036.3(SKI):c.393G>A (p.Leu131=) http://identifiers.org/clinvar/264492 ^@ NM_003036.3(SKI):c.844C>A (p.Arg282=) http://identifiers.org/clinvar/264199 ^@ NM_003036.3(SKI):c.964C>T (p.Pro322Ser) http://identifiers.org/clinvar/263895 ^@ NM_003036.3(SKI):c.1309G>A (p.Ala437Thr) http://identifiers.org/clinvar/263904 ^@ NM_003036.3(SKI):c.1263C>T (p.Leu421=) http://identifiers.org/clinvar/263761 ^@ NM_001103.3(ACTN2):c.439T>C (p.Ser147Pro) http://identifiers.org/clinvar/263792 ^@ NM_001103.3(ACTN2):c.667C>T (p.Leu223=) http://identifiers.org/clinvar/263547 ^@ NM_001103.3(ACTN2):c.979C>T (p.Arg327Cys) http://identifiers.org/clinvar/264452 ^@ NM_001103.3(ACTN2):c.745G>A (p.Val249Ile) http://identifiers.org/clinvar/263457 ^@ NM_001103.3(ACTN2):c.1236G>A (p.Thr412=) http://identifiers.org/clinvar/263707 ^@ NM_001103.3(ACTN2):c.1311G>A (p.Val437=) http://identifiers.org/clinvar/264330 ^@ NM_001103.3(ACTN2):c.1323G>A (p.Leu441=) http://identifiers.org/clinvar/264337 ^@ NM_001103.3(ACTN2):c.1333G>A (p.Glu445Lys) http://identifiers.org/clinvar/263482 ^@ NM_001103.3(ACTN2):c.1972G>C (p.Glu658Gln) http://identifiers.org/clinvar/263591 ^@ NM_001103.3(ACTN2):c.2658C>T (p.Ser886=) http://identifiers.org/clinvar/263552 ^@ NM_001035.2(RYR2):c.4489G>A (p.Gly1497Arg) http://identifiers.org/clinvar/263677 ^@ NM_001035.2(RYR2):c.383T>C (p.Met128Thr) http://identifiers.org/clinvar/264621 ^@ NM_001035.2(RYR2):c.4902G>A (p.Glu1634=) http://identifiers.org/clinvar/263982 ^@ NM_001035.2(RYR2):c.6280G>A (p.Gly2094Ser) http://identifiers.org/clinvar/264184 ^@ NM_001035.2(RYR2):c.7233C>T (p.Ala2411=) http://identifiers.org/clinvar/263678 ^@ NM_001035.2(RYR2):c.7314C>T (p.Ile2438=) http://identifiers.org/clinvar/263777 ^@ NM_001035.2(RYR2):c.7443A>G (p.Gln2481=) http://identifiers.org/clinvar/263737 ^@ NM_001035.2(RYR2):c.8028G>A (p.Leu2676=) http://identifiers.org/clinvar/264296 ^@ NM_001035.2(RYR2):c.9942C>G (p.Leu3314=) http://identifiers.org/clinvar/263612 ^@ NM_001035.2(RYR2):c.9750G>T (p.Trp3250Cys) http://identifiers.org/clinvar/264295 ^@ NM_001035.2(RYR2):c.10035G>A (p.Arg3345=) http://identifiers.org/clinvar/264154 ^@ NM_001035.2(RYR2):c.10700G>A (p.Arg3567His) http://identifiers.org/clinvar/264573 ^@ NM_001035.2(RYR2):c.11587G>A (p.Gly3863Ser) http://identifiers.org/clinvar/264589 ^@ NM_001035.2(RYR2):c.11152G>A (p.Glu3718Lys) http://identifiers.org/clinvar/264185 ^@ NM_001035.2(RYR2):c.11605A>G (p.Asn3869Asp) http://identifiers.org/clinvar/264421 ^@ NM_001035.2(RYR2):c.12056T>C (p.Met4019Thr) http://identifiers.org/clinvar/264437 ^@ NM_001035.2(RYR2):c.13689G>A (p.Glu4563=) http://identifiers.org/clinvar/264585 ^@ NM_001035.2(RYR2):c.14220C>T (p.Ala4740=) http://identifiers.org/clinvar/263346 ^@ NM_001035.2(RYR2):c.12627G>A (p.Ser4209=) http://identifiers.org/clinvar/263627 ^@ NM_001035.2(RYR2):c.14493C>T (p.Ile4831=) http://identifiers.org/clinvar/264631 ^@ NM_001035.2(RYR2):c.13984G>A (p.Gly4662Ser) http://identifiers.org/clinvar/263679 ^@ NM_001035.2(RYR2):c.14711G>A (p.Gly4904Asp) http://identifiers.org/clinvar/264483 ^@ NM_001035.2(RYR2):c.14848G>C (p.Glu4950Gln) http://identifiers.org/clinvar/264597 ^@ NM_144573.3(NEXN):c.392A>C (p.Gln131Pro) http://identifiers.org/clinvar/263645 ^@ NM_144573.3(NEXN):c.817C>T (p.Arg273Cys) http://identifiers.org/clinvar/263611 ^@ NM_144573.3(NEXN):c.634T>A (p.Tyr212Asn) http://identifiers.org/clinvar/264504 ^@ NM_144573.3(NEXN):c.1785C>T (p.Asp595=) http://identifiers.org/clinvar/264042 ^@ NM_003319.4(TTN):c.79266T>A (p.Ser26422Arg) http://identifiers.org/clinvar/263407 ^@ NM_133378.4(TTN):c.98511C>T (p.Thr32837=) http://identifiers.org/clinvar/264486 ^@ NM_003319.4(TTN):c.77087G>A (p.Arg25696Gln) http://identifiers.org/clinvar/263435 ^@ NM_133378.4(TTN):c.95906G>A (p.Arg31969Gln) http://identifiers.org/clinvar/264531 ^@ NM_003319.4(TTN):c.76245C>T (p.Thr25415=) http://identifiers.org/clinvar/264010 ^@ NM_003319.4(TTN):c.74978G>A (p.Arg24993Lys) http://identifiers.org/clinvar/264498 ^@ NM_003319.4(TTN):c.75690T>C (p.Gly25230=) http://identifiers.org/clinvar/263363 ^@ NM_133378.4(TTN):c.91971A>C (p.Val30657=) http://identifiers.org/clinvar/263362 ^@ NM_133378.4(TTN):c.92541A>C (p.Pro30847=) http://identifiers.org/clinvar/264023 ^@ NM_003319.4(TTN):c.72855C>A (p.Thr24285=) http://identifiers.org/clinvar/263714 ^@ NM_133378.4(TTN):c.91863C>G (p.Leu30621=) http://identifiers.org/clinvar/264274 ^@ NM_003319.4(TTN):c.72326T>C (p.Ile24109Thr) http://identifiers.org/clinvar/263491 ^@ NM_133378.4(TTN):c.91792G>T (p.Glu30598Ter) http://identifiers.org/clinvar/264135 ^@ NM_003319.4(TTN):c.71349C>G (p.Ser23783=) http://identifiers.org/clinvar/264588 ^@ NM_003319.4(TTN):c.71010A>C (p.Ile23670=) http://identifiers.org/clinvar/264362 ^@ NM_003319.4(TTN):c.72226C>T (p.Leu24076Phe) http://identifiers.org/clinvar/263602 ^@ NM_133378.4(TTN):c.89875G>A (p.Gly29959Ser) http://identifiers.org/clinvar/263531 ^@ NM_133378.4(TTN):c.90534T>C (p.Ser30178=) http://identifiers.org/clinvar/263486 ^@ NM_133378.4(TTN):c.89874C>G (p.Asp29958Glu) http://identifiers.org/clinvar/263592 ^@ NM_133378.4(TTN):c.89669C>T (p.Thr29890Met) http://identifiers.org/clinvar/263723 ^@ NM_133378.4(TTN):c.88263C>T (p.Asn29421=) http://identifiers.org/clinvar/263715 ^@ NM_133378.4(TTN):c.87846G>A (p.Lys29282=) http://identifiers.org/clinvar/264220 ^@ NM_003319.4(TTN):c.68169T>C (p.Tyr22723=) http://identifiers.org/clinvar/263493 ^@ NM_133378.4(TTN):c.87601G>A (p.Val29201Ile) http://identifiers.org/clinvar/264404 ^@ NM_003319.4(TTN):c.65436dupG (p.Lys21813Glufs) http://identifiers.org/clinvar/264171 ^@ NM_003319.4(TTN):c.68238C>T (p.Pro22746=) http://identifiers.org/clinvar/263633 ^@ NM_133378.4(TTN):c.83680C>T (p.Arg27894Trp) http://identifiers.org/clinvar/263445 ^@ NM_001267550.2(TTN):c.94655_94657delGAG (p.Gly31552del) http://identifiers.org/clinvar/263456 ^@ NM_133378.4(TTN):c.82542A>G (p.Ile27514Met) http://identifiers.org/clinvar/263626 ^@ NM_001267550.2(TTN):c.95851_95853delAAG (p.Lys31951del) http://identifiers.org/clinvar/264170 ^@ NM_003319.4(TTN):c.68140A>C (p.Ile22714Leu) http://identifiers.org/clinvar/263651 ^@ NM_133378.4(TTN):c.83141C>T (p.Thr27714Met) http://identifiers.org/clinvar/263942 ^@ NM_003319.4(TTN):c.64739T>A (p.Leu21580His) http://identifiers.org/clinvar/264301 ^@ NM_003319.4(TTN):c.62964A>C (p.Lys20988Asn) http://identifiers.org/clinvar/263764 ^@ NM_133378.4(TTN):c.81313C>T (p.Arg27105Ter) http://identifiers.org/clinvar/264141 ^@ NM_003319.4(TTN):c.61903_61905delGAA (p.Glu20635del) http://identifiers.org/clinvar/263406 ^@ NM_133378.4(TTN):c.80868C>T (p.Ala26956=) http://identifiers.org/clinvar/263408 ^@ NM_133378.4(TTN):c.80868C>A (p.Ala26956=) http://identifiers.org/clinvar/264210 ^@ NM_003319.4(TTN):c.60620A>G (p.Tyr20207Cys) http://identifiers.org/clinvar/263791 ^@ NM_133378.4(TTN):c.79967T>C (p.Ile26656Thr) http://identifiers.org/clinvar/264476 ^@ NM_003319.4(TTN):c.59846G>A (p.Arg19949Gln) http://identifiers.org/clinvar/264600 ^@ NM_003319.4(TTN):c.59678G>A (p.Ser19893Asn) http://identifiers.org/clinvar/264316 ^@ NM_003319.4(TTN):c.59779T>C (p.Cys19927Arg) http://identifiers.org/clinvar/263479 ^@ NM_133378.4(TTN):c.78299T>A (p.Ile26100Lys) http://identifiers.org/clinvar/263671 ^@ NM_133378.4(TTN):c.77876G>A (p.Gly25959Asp) http://identifiers.org/clinvar/263596 ^@ NM_133378.4(TTN):c.77564G>A (p.Arg25855Gln) http://identifiers.org/clinvar/263608 ^@ NM_133378.4(TTN):c.77688T>C (p.Thr25896=) http://identifiers.org/clinvar/264324 ^@ NM_003319.4(TTN):c.57781C>T (p.Arg19261Trp) http://identifiers.org/clinvar/264136 ^@ NM_003319.4(TTN):c.57398G>C (p.Ser19133Thr) http://identifiers.org/clinvar/263759 ^@ NM_133378.4(TTN):c.76559G>C (p.Ser25520Thr) http://identifiers.org/clinvar/263551 ^@ NM_133378.4(TTN):c.76702G>A (p.Gly25568Arg) http://identifiers.org/clinvar/264347 ^@ NM_003319.4(TTN):c.56376C>T (p.Pro18792=) http://identifiers.org/clinvar/264249 ^@ NM_003319.4(TTN):c.55996T>C (p.Leu18666=) http://identifiers.org/clinvar/263483 ^@ NM_133378.4(TTN):c.75100G>A (p.Val25034Ile) http://identifiers.org/clinvar/264558 ^@ NM_003319.4(TTN):c.55878T>C (p.Ala18626=) http://identifiers.org/clinvar/264455 ^@ NM_003319.4(TTN):c.55602C>T (p.Gly18534=) http://identifiers.org/clinvar/264244 ^@ NM_003319.4(TTN):c.55532A>G (p.Asn18511Ser) http://identifiers.org/clinvar/264516 ^@ NM_003319.4(TTN):c.54889A>G (p.Ile18297Val) http://identifiers.org/clinvar/264059 ^@ NM_003319.4(TTN):c.54753T>C (p.Leu18251=) http://identifiers.org/clinvar/263802 ^@ NM_133378.4(TTN):c.73636_73640delAAGAA (p.Lys24546Glnfs) http://identifiers.org/clinvar/264466 ^@ NM_003319.4(TTN):c.52666A>G (p.Thr17556Ala) http://identifiers.org/clinvar/264625 ^@ NM_003319.4(TTN):c.52252dupG (p.Asp17418Glyfs) http://identifiers.org/clinvar/263459 ^@ NM_133378.4(TTN):c.71887G>A (p.Glu23963Lys) http://identifiers.org/clinvar/264202 ^@ NM_003319.4(TTN):c.51298G>A (p.Ala17100Thr) http://identifiers.org/clinvar/264020 ^@ NM_003319.4(TTN):c.51908G>T (p.Gly17303Val) http://identifiers.org/clinvar/264586 ^@ NM_003319.4(TTN):c.51749G>C (p.Gly17250Ala) http://identifiers.org/clinvar/264259 ^@ NM_003319.4(TTN):c.49292C>G (p.Pro16431Arg) http://identifiers.org/clinvar/263410 ^@ NM_133378.4(TTN):c.66486T>G (p.Gly22162=) http://identifiers.org/clinvar/263658 ^@ NM_133378.4(TTN):c.69929A>G (p.Gln23310Arg) http://identifiers.org/clinvar/263537 ^@ NM_133378.4(TTN):c.67488T>C (p.Thr22496=) http://identifiers.org/clinvar/263529 ^@ NM_001267550.2(TTN):c.73508delA (p.Asn24503Ilefs) http://identifiers.org/clinvar/264617 ^@ NM_003319.4(TTN):c.46173T>C (p.Pro15391=) http://identifiers.org/clinvar/264576 ^@ NM_003319.4(TTN):c.48501T>C (p.Asp16167=) http://identifiers.org/clinvar/263675 ^@ NM_001267550.2(TTN):c.75451_75453delGAG (p.Glu25151del) http://identifiers.org/clinvar/263616 ^@ NM_133378.4(TTN):c.65933A>T (p.Asp21978Val) http://identifiers.org/clinvar/263494 ^@ NM_133378.4(TTN):c.66338A>G (p.Gln22113Arg) http://identifiers.org/clinvar/264186 ^@ NM_003319.4(TTN):c.44173C>T (p.Arg14725Cys) http://identifiers.org/clinvar/264122 ^@ NM_003319.4(TTN):c.44306A>C (p.Gln14769Pro) http://identifiers.org/clinvar/263624 ^@ NM_133378.4(TTN):c.65520G>A (p.Gly21840=) http://identifiers.org/clinvar/263730 ^@ NM_133378.4(TTN):c.62556G>A (p.Pro20852=) http://identifiers.org/clinvar/263375 ^@ NM_133378.4(TTN):c.60777C>A (p.Gly20259=) http://identifiers.org/clinvar/264228 ^@ NM_003319.4(TTN):c.44879A>C (p.Glu14960Ala) http://identifiers.org/clinvar/263570 ^@ NM_133378.4(TTN):c.59310C>A (p.Asn19770Lys) http://identifiers.org/clinvar/263724 ^@ NM_133378.4(TTN):c.63294A>G (p.Thr21098=) http://identifiers.org/clinvar/263509 ^@ NM_133378.4(TTN):c.59933-1G>C http://identifiers.org/clinvar/263357 ^@ NM_133378.4(TTN):c.58377G>T (p.Gln19459His) http://identifiers.org/clinvar/264080 ^@ NM_003319.4(TTN):c.40888G>A (p.Ala13630Thr) http://identifiers.org/clinvar/263782 ^@ NM_133378.4(TTN):c.58823C>T (p.Ser19608Phe) http://identifiers.org/clinvar/263588 ^@ NM_133378.4(TTN):c.63400G>T (p.Gly21134Trp) http://identifiers.org/clinvar/263672 ^@ NM_133378.4(TTN):c.58777G>A (p.Ala19593Thr) http://identifiers.org/clinvar/264208 ^@ NM_003319.4(TTN):c.41023C>T (p.Pro13675Ser) http://identifiers.org/clinvar/263775 ^@ NM_133378.4(TTN):c.57782A>G (p.Gln19261Arg) http://identifiers.org/clinvar/263495 ^@ NM_133378.4(TTN):c.57554C>T (p.Thr19185Ile) http://identifiers.org/clinvar/263662 ^@ NM_133378.4(TTN):c.55412A>C (p.Lys18471Thr) http://identifiers.org/clinvar/264218 ^@ NM_003319.4(TTN):c.34442dupA (p.Tyr11482Valfs) http://identifiers.org/clinvar/264601 ^@ NM_003319.4(TTN):c.34397G>A (p.Arg11466His) http://identifiers.org/clinvar/264523 ^@ NM_003319.4(TTN):c.39707A>G (p.Asn13236Ser) http://identifiers.org/clinvar/263610 ^@ NM_133378.4(TTN):c.54720C>T (p.Asp18240=) http://identifiers.org/clinvar/264599 ^@ NM_003319.4(TTN):c.38720G>A (p.Arg12907His) http://identifiers.org/clinvar/263442 ^@ NM_133378.4(TTN):c.54843G>A (p.Thr18281=) http://identifiers.org/clinvar/263530 ^@ NM_133378.4(TTN):c.53240G>A (p.Gly17747Asp) http://identifiers.org/clinvar/264246 ^@ NM_003319.4(TTN):c.33947A>G (p.Lys11316Arg) http://identifiers.org/clinvar/263575 ^@ NM_133378.4(TTN):c.53083A>G (p.Thr17695Ala) http://identifiers.org/clinvar/264221 ^@ NM_003319.4(TTN):c.33071T>C (p.Val11024Ala) http://identifiers.org/clinvar/263757 ^@ NM_133378.4(TTN):c.52304G>A (p.Arg17435His) http://identifiers.org/clinvar/263721 ^@ NM_133378.4(TTN):c.52145G>A (p.Arg17382Gln) http://identifiers.org/clinvar/264060 ^@ NM_003319.4(TTN):c.32156_32157delCT (p.Pro10719Argfs) http://identifiers.org/clinvar/263776 ^@ NM_133378.4(TTN):c.51243G>A (p.Gln17081=) http://identifiers.org/clinvar/263609 ^@ NM_133378.4(TTN):c.50315T>A (p.Leu16772His) http://identifiers.org/clinvar/263477 ^@ NM_001267550.2(TTN):c.57462_57464delGAGinsAAA (p.Arg19155Lys) http://identifiers.org/clinvar/264456 ^@ NM_003319.4(TTN):c.30665G>A (p.Arg10222His) http://identifiers.org/clinvar/263665 ^@ NM_133378.4(TTN):c.47955G>A (p.Val15985=) http://identifiers.org/clinvar/263669 ^@ NM_133378.4(TTN):c.46411G>A (p.Asp15471Asn) http://identifiers.org/clinvar/263635 ^@ NM_133378.4(TTN):c.46970G>T (p.Gly15657Val) http://identifiers.org/clinvar/263622 ^@ NM_133378.4(TTN):c.46656T>C (p.Thr15552=) http://identifiers.org/clinvar/263538 ^@ NM_133378.4(TTN):c.44801T>C (p.Leu14934Ser) http://identifiers.org/clinvar/263758 ^@ NM_133378.4(TTN):c.47151G>A (p.Thr15717=) http://identifiers.org/clinvar/264123 ^@ NM_003319.4(TTN):c.22956G>C (p.Glu7652Asp) http://identifiers.org/clinvar/264297 ^@ NM_003319.4(TTN):c.26095G>A (p.Val8699Ile) http://identifiers.org/clinvar/263496 ^@ NM_133378.4(TTN):c.41871G>A (p.Val13957=) http://identifiers.org/clinvar/264232 ^@ NM_003319.4(TTN):c.24857T>C (p.Val8286Ala) http://identifiers.org/clinvar/263752 ^@ NM_133378.4(TTN):c.44613A>G (p.Lys14871=) http://identifiers.org/clinvar/263745 ^@ NM_133378.4(TTN):c.42335G>T (p.Gly14112Val) http://identifiers.org/clinvar/264137 ^@ NM_003319.4(TTN):c.22888C>A (p.Arg7630=) http://identifiers.org/clinvar/263751 ^@ NM_133378.4(TTN):c.45246A>G (p.Ala15082=) http://identifiers.org/clinvar/264124 ^@ NM_003319.4(TTN):c.21796_21798delATT (p.Ile7266del) http://identifiers.org/clinvar/263747 ^@ NM_133378.4(TTN):c.41691C>T (p.Asp13897=) http://identifiers.org/clinvar/263497 ^@ NM_133378.4(TTN):c.41123T>C (p.Ile13708Thr) http://identifiers.org/clinvar/264187 ^@ NM_003319.4(TTN):c.23927A>G (p.Asn7976Ser) http://identifiers.org/clinvar/264279 ^@ NM_003319.4(TTN):c.21256A>G (p.Thr7086Ala) http://identifiers.org/clinvar/264517 ^@ NM_003319.4(TTN):c.20299C>T (p.Arg6767Ter) http://identifiers.org/clinvar/263364 ^@ NM_133378.4(TTN):c.41945-4G>T http://identifiers.org/clinvar/263512 ^@ NM_133378.4(TTN):c.41199G>C (p.Gln13733His) http://identifiers.org/clinvar/263376 ^@ NM_133378.4(TTN):c.39042C>A (p.Gly13014=) http://identifiers.org/clinvar/264057 ^@ NM_003319.4(TTN):c.20022C>T (p.Gly6674=) http://identifiers.org/clinvar/264134 ^@ NM_003319.4(TTN):c.18785G>A (p.Arg6262His) http://identifiers.org/clinvar/264445 ^@ NM_003319.4(TTN):c.20083G>A (p.Gly6695Ser) http://identifiers.org/clinvar/263732 ^@ NM_133378.4(TTN):c.36506G>T (p.Arg12169Leu) http://identifiers.org/clinvar/263615 ^@ NM_133378.4(TTN):c.38357A>G (p.Tyr12786Cys) http://identifiers.org/clinvar/264325 ^@ NM_003319.4(TTN):c.19942_19943delAG (p.Ser6648Leufs) http://identifiers.org/clinvar/263648 ^@ NM_133378.4(TTN):c.36826G>A (p.Ala12276Thr) http://identifiers.org/clinvar/263727 ^@ NM_133378.4(TTN):c.35021C>T (p.Ala11674Val) http://identifiers.org/clinvar/263673 ^@ NM_133378.4(TTN):c.29766T>C (p.Leu9922=) http://identifiers.org/clinvar/263941 ^@ NM_003319.4(TTN):c.16641A>G (p.Ala5547=) http://identifiers.org/clinvar/263564 ^@ NM_133378.4(TTN):c.38044A>T (p.Ser12682Cys) http://identifiers.org/clinvar/264051 ^@ NM_003319.4(TTN):c.13386A>G (p.Glu4462=) http://identifiers.org/clinvar/263536 ^@ NM_133378.4(TTN):c.36671T>A (p.Ile12224Asn) http://identifiers.org/clinvar/263480 ^@ NM_133378.4(TTN):c.36282T>G (p.Asp12094Glu) http://identifiers.org/clinvar/263674 ^@ NM_133378.4(TTN):c.26228T>A (p.Ile8743Asn) http://identifiers.org/clinvar/264389 ^@ NM_003319.4(TTN):c.16086T>C (p.Phe5362=) http://identifiers.org/clinvar/263795 ^@ NM_133378.4(TTN):c.24323T>C (p.Leu8108Ser) http://identifiers.org/clinvar/263498 ^@ NM_133378.4(TTN):c.23634C>T (p.Ser7878=) http://identifiers.org/clinvar/264603 ^@ NM_003319.4(TTN):c.14508T>C (p.Thr4836=) http://identifiers.org/clinvar/263565 ^@ NM_133378.4(TTN):c.26981A>G (p.Lys8994Arg) http://identifiers.org/clinvar/263365 ^@ NM_133378.4(TTN):c.24282C>A (p.Gly8094=) http://identifiers.org/clinvar/263597 ^@ NM_133378.4(TTN):c.32853C>T (p.Ser10951=) http://identifiers.org/clinvar/263703 ^@ NM_133378.4(TTN):c.22645A>G (p.Thr7549Ala) http://identifiers.org/clinvar/263539 ^@ NM_133378.4(TTN):c.23129C>A (p.Pro7710Gln) http://identifiers.org/clinvar/263716 ^@ NM_133378.4(TTN):c.20858C>T (p.Thr6953Ile) http://identifiers.org/clinvar/263625 ^@ NM_133378.4(TTN):c.24388A>G (p.Thr8130Ala) http://identifiers.org/clinvar/263344 ^@ NM_133378.4(TTN):c.22384G>A (p.Asp7462Asn) http://identifiers.org/clinvar/263492 ^@ NM_133378.4(TTN):c.20207-4A>G http://identifiers.org/clinvar/263748 ^@ NM_133378.4(TTN):c.23140T>C (p.Ser7714Pro) http://identifiers.org/clinvar/263713 ^@ NM_133378.4(TTN):c.17559T>A (p.Asn5853Lys) http://identifiers.org/clinvar/263438 ^@ NM_133378.4(TTN):c.14563C>T (p.Leu4855Phe) http://identifiers.org/clinvar/263481 ^@ NM_133378.4(TTN):c.22205G>A (p.Arg7402His) http://identifiers.org/clinvar/263504 ^@ NM_133378.4(TTN):c.21415A>G (p.Ile7139Val) http://identifiers.org/clinvar/263653 ^@ NM_133378.4(TTN):c.16873G>C (p.Glu5625Gln) http://identifiers.org/clinvar/263546 ^@ NM_133378.4(TTN):c.13452A>G (p.Glu4484=) http://identifiers.org/clinvar/263728 ^@ NM_133378.4(TTN):c.11830C>A (p.Gln3944Lys) http://identifiers.org/clinvar/263490 ^@ NM_133378.4(TTN):c.11166T>C (p.Ala3722=) http://identifiers.org/clinvar/263799 ^@ NM_133378.4(TTN):c.20169T>G (p.Val6723=) http://identifiers.org/clinvar/263621 ^@ NM_133378.4(TTN):c.16665G>A (p.Arg5555=) http://identifiers.org/clinvar/263720 ^@ NM_133378.4(TTN):c.19943T>C (p.Ile6648Thr) http://identifiers.org/clinvar/263593 ^@ NM_133378.4(TTN):c.12325C>A (p.Arg4109=) http://identifiers.org/clinvar/263532 ^@ NM_133378.4(TTN):c.10969A>G (p.Ile3657Val) http://identifiers.org/clinvar/263663 ^@ NM_133378.4(TTN):c.14988A>G (p.Arg4996=) http://identifiers.org/clinvar/263652 ^@ NM_133378.4(TTN):c.12129G>A (p.Thr4043=) http://identifiers.org/clinvar/264496 ^@ NM_003319.4(TTN):c.10870A>G (p.Ile3624Val) http://identifiers.org/clinvar/263366 ^@ NM_133378.4(TTN):c.10032A>C (p.Pro3344=) http://identifiers.org/clinvar/263726 ^@ NM_133378.4(TTN):c.9512A>G (p.Asn3171Ser) http://identifiers.org/clinvar/263377 ^@ NM_133378.4(TTN):c.9129A>G (p.Gly3043=) http://identifiers.org/clinvar/264459 ^@ NM_003319.4(TTN):c.12788C>A (p.Thr4263Lys) http://identifiers.org/clinvar/263368 ^@ NM_133378.4(TTN):c.9669A>G (p.Gly3223=) http://identifiers.org/clinvar/264293 ^@ NM_003319.4(TTN):c.7819T>C (p.Leu2607=) http://identifiers.org/clinvar/263691 ^@ NM_001267550.2(TTN):c.8223_8224delCAinsTC (p.Lys2742Gln) http://identifiers.org/clinvar/263649 ^@ NM_133378.4(TTN):c.8043C>T (p.Thr2681=) http://identifiers.org/clinvar/263756 ^@ NM_133378.4(TTN):c.10907C>T (p.Ala3636Val) http://identifiers.org/clinvar/263487 ^@ NM_133378.4(TTN):c.9812C>T (p.Ser3271Phe) http://identifiers.org/clinvar/264315 ^@ NM_003319.4(TTN):c.8514T>A (p.Ile2838=) http://identifiers.org/clinvar/264475 ^@ NM_003319.4(TTN):c.6682C>G (p.Gln2228Glu) http://identifiers.org/clinvar/264009 ^@ NM_003319.4(TTN):c.6576G>A (p.Thr2192=) http://identifiers.org/clinvar/263666 ^@ NM_133378.4(TTN):c.6593C>T (p.Thr2198Ile) http://identifiers.org/clinvar/263548 ^@ NM_133378.4(TTN):c.6321C>T (p.Pro2107=) http://identifiers.org/clinvar/264326 ^@ NM_003319.4(TTN):c.5438G>T (p.Arg1813Met) http://identifiers.org/clinvar/264323 ^@ NM_003319.4(TTN):c.5301A>G (p.Leu1767=) http://identifiers.org/clinvar/263762 ^@ NM_133378.4(TTN):c.5268A>G (p.Glu1756=) http://identifiers.org/clinvar/263594 ^@ NM_133378.4(TTN):c.3940A>G (p.Met1314Val) http://identifiers.org/clinvar/263753 ^@ NM_133378.4(TTN):c.2760C>T (p.His920=) http://identifiers.org/clinvar/264610 ^@ NM_003319.4(TTN):c.3730G>A (p.Glu1244Lys) http://identifiers.org/clinvar/263700 ^@ NM_133378.4(TTN):c.204C>T (p.Pro68=) http://identifiers.org/clinvar/263452 ^@ NM_133378.4(TTN):c.2629C>A (p.Pro877Thr) http://identifiers.org/clinvar/263853 ^@ NM_000090.3(COL3A1):c.52C>T (p.Pro18Ser) http://identifiers.org/clinvar/264052 ^@ NM_003319.4(TTN):c.3019G>A (p.Glu1007Lys) http://identifiers.org/clinvar/263844 ^@ NM_000090.3(COL3A1):c.217G>C (p.Asp73His) http://identifiers.org/clinvar/263780 ^@ NM_133378.4(TTN):c.1421C>T (p.Thr474Ile) http://identifiers.org/clinvar/263595 ^@ NM_133378.4(TTN):c.2599A>G (p.Ser867Gly) http://identifiers.org/clinvar/264258 ^@ NM_000090.3(COL3A1):c.121G>A (p.Asp41Asn) http://identifiers.org/clinvar/263523 ^@ NM_000090.3(COL3A1):c.528+5G>A http://identifiers.org/clinvar/263816 ^@ NM_000090.3(COL3A1):c.1156C>T (p.Pro386Ser) http://identifiers.org/clinvar/263835 ^@ NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) http://identifiers.org/clinvar/263818 ^@ NM_000090.3(COL3A1):c.508G>A (p.Ala170Thr) http://identifiers.org/clinvar/263640 ^@ NM_000090.3(COL3A1):c.531C>A (p.Gly177=) http://identifiers.org/clinvar/263619 ^@ NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) http://identifiers.org/clinvar/263946 ^@ NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) http://identifiers.org/clinvar/263468 ^@ NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) http://identifiers.org/clinvar/263466 ^@ NM_000090.3(COL3A1):c.1348-5_1348-4delTT http://identifiers.org/clinvar/263861 ^@ NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) http://identifiers.org/clinvar/264567 ^@ NM_000090.3(COL3A1):c.897+4A>G http://identifiers.org/clinvar/263923 ^@ NM_000090.3(COL3A1):c.554C>G (p.Pro185Arg) http://identifiers.org/clinvar/263829 ^@ NM_000090.3(COL3A1):c.1241G>A (p.Gly414Asp) http://identifiers.org/clinvar/263581 ^@ NM_000090.3(COL3A1):c.1727G>A (p.Gly576Asp) http://identifiers.org/clinvar/263854 ^@ NM_000090.3(COL3A1):c.1303G>A (p.Gly435Ser) http://identifiers.org/clinvar/263573 ^@ NM_000090.3(COL3A1):c.2489C>T (p.Pro830Leu) http://identifiers.org/clinvar/263987 ^@ NM_000090.3(COL3A1):c.2801C>T (p.Ser934Leu) http://identifiers.org/clinvar/263586 ^@ NM_000090.3(COL3A1):c.3205C>T (p.Pro1069Ser) http://identifiers.org/clinvar/263630 ^@ NM_000090.3(COL3A1):c.2022+4G>A http://identifiers.org/clinvar/264434 ^@ NM_000090.3(COL3A1):c.1813C>G (p.Gln605Glu) http://identifiers.org/clinvar/263465 ^@ NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) http://identifiers.org/clinvar/263931 ^@ NM_000090.3(COL3A1):c.2394T>C (p.Gly798=) http://identifiers.org/clinvar/263828 ^@ NM_000090.3(COL3A1):c.2927T>C (p.Val976Ala) http://identifiers.org/clinvar/263324 ^@ NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) http://identifiers.org/clinvar/263689 ^@ NM_000090.3(COL3A1):c.2519G>T (p.Gly840Val) http://identifiers.org/clinvar/263793 ^@ NM_000090.3(COL3A1):c.3500_3501delGTinsAA (p.Gly1167Glu) http://identifiers.org/clinvar/263809 ^@ NM_000090.3(COL3A1):c.2802G>A (p.Ser934=) http://identifiers.org/clinvar/263774 ^@ NM_000090.3(COL3A1):c.2642delC (p.Pro881Leufs) http://identifiers.org/clinvar/263685 ^@ NM_000090.3(COL3A1):c.3229G>A (p.Gly1077Ser) http://identifiers.org/clinvar/264160 ^@ NM_000090.3(COL3A1):c.4003G>A (p.Gly1335Ser) http://identifiers.org/clinvar/264159 ^@ NM_000090.3(COL3A1):c.3200G>A (p.Ser1067Asn) http://identifiers.org/clinvar/263525 ^@ NM_000090.3(COL3A1):c.3806A>G (p.His1269Arg) http://identifiers.org/clinvar/263915 ^@ NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) http://identifiers.org/clinvar/263935 ^@ NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) http://identifiers.org/clinvar/264167 ^@ NM_000393.4(COL5A2):c.4423A>G (p.Ile1475Val) http://identifiers.org/clinvar/263683 ^@ NM_000090.3(COL3A1):c.3859T>C (p.Leu1287=) http://identifiers.org/clinvar/263557 ^@ NM_000090.3(COL3A1):c.4073G>A (p.Arg1358Gln) http://identifiers.org/clinvar/263882 ^@ NM_000090.3(COL3A1):c.4300C>T (p.Arg1434Cys) http://identifiers.org/clinvar/264502 ^@ NM_000393.4(COL5A2):c.3222G>A (p.Gly1074=) http://identifiers.org/clinvar/264579 ^@ NM_000393.4(COL5A2):c.1073C>T (p.Ala358Val) http://identifiers.org/clinvar/264616 ^@ NM_000393.4(COL5A2):c.2988C>T (p.Gly996=) http://identifiers.org/clinvar/264358 ^@ NM_000393.4(COL5A2):c.4409C>T (p.Ala1470Val) http://identifiers.org/clinvar/263921 ^@ NM_000393.4(COL5A2):c.2884C>A (p.Pro962Thr) http://identifiers.org/clinvar/263925 ^@ NM_000090.3(COL3A1):c.4080C>G (p.Leu1360=) http://identifiers.org/clinvar/264413 ^@ NM_000393.4(COL5A2):c.587C>A (p.Ala196Asp) http://identifiers.org/clinvar/264063 ^@ NM_000393.4(COL5A2):c.894G>C (p.Leu298=) http://identifiers.org/clinvar/263554 ^@ NM_001927.3(DES):c.286G>T (p.Ala96Ser) http://identifiers.org/clinvar/264388 ^@ NM_000393.4(COL5A2):c.4316T>C (p.Ile1439Thr) http://identifiers.org/clinvar/264206 ^@ NM_000393.4(COL5A2):c.1394G>T (p.Gly465Val) http://identifiers.org/clinvar/264129 ^@ NM_001927.3(DES):c.609A>C (p.Glu203Asp) http://identifiers.org/clinvar/264441 ^@ NM_001927.3(DES):c.109C>T (p.Arg37Trp) http://identifiers.org/clinvar/264262 ^@ NM_053025.3(MYLK):c.4520G>A (p.Arg1507Gln) http://identifiers.org/clinvar/264543 ^@ NM_053025.3(MYLK):c.4645C>T (p.Arg1549Cys) http://identifiers.org/clinvar/264399 ^@ NM_053025.3(MYLK):c.4915G>C (p.Gly1639Arg) http://identifiers.org/clinvar/263932 ^@ NM_053025.3(MYLK):c.4119A>G (p.Ser1373=) http://identifiers.org/clinvar/264291 ^@ NM_053025.3(MYLK):c.4349G>A (p.Arg1450Gln) http://identifiers.org/clinvar/263361 ^@ NM_001927.3(DES):c.438C>G (p.Arg146=) http://identifiers.org/clinvar/263899 ^@ NM_053025.3(MYLK):c.4336G>A (p.Glu1446Lys) http://identifiers.org/clinvar/264105 ^@ NM_053025.3(MYLK):c.3755G>A (p.Gly1252Glu) http://identifiers.org/clinvar/264287 ^@ NM_053025.3(MYLK):c.4026C>T (p.Asp1342=) http://identifiers.org/clinvar/264396 ^@ NM_053025.3(MYLK):c.4082G>A (p.Ser1361Asn) http://identifiers.org/clinvar/264548 ^@ NM_053025.3(MYLK):c.3681C>T (p.Ala1227=) http://identifiers.org/clinvar/264013 ^@ NM_053025.3(MYLK):c.3750C>T (p.Arg1250=) http://identifiers.org/clinvar/264335 ^@ NM_053025.3(MYLK):c.4620-4G>A http://identifiers.org/clinvar/263960 ^@ NM_053025.3(MYLK):c.4293G>A (p.Pro1431=) http://identifiers.org/clinvar/264126 ^@ NM_053025.3(MYLK):c.3969C>T (p.Val1323=) http://identifiers.org/clinvar/263940 ^@ NM_053025.3(MYLK):c.3611G>A (p.Arg1204Gln) http://identifiers.org/clinvar/264565 ^@ NM_053025.3(MYLK):c.3242A>G (p.His1081Arg) http://identifiers.org/clinvar/264198 ^@ NM_053025.3(MYLK):c.3183C>T (p.Ser1061=) http://identifiers.org/clinvar/264305 ^@ NM_053025.3(MYLK):c.2799G>A (p.Val933=) http://identifiers.org/clinvar/264352 ^@ NM_053025.3(MYLK):c.3048T>C (p.Asn1016=) http://identifiers.org/clinvar/264351 ^@ NM_053025.3(MYLK):c.2474C>T (p.Pro825Leu) http://identifiers.org/clinvar/264001 ^@ NM_053025.3(MYLK):c.1802A>C (p.His601Pro) http://identifiers.org/clinvar/264383 ^@ NM_053025.3(MYLK):c.1314C>T (p.Ser438=) http://identifiers.org/clinvar/264553 ^@ NM_053025.3(MYLK):c.1496G>C (p.Ser499Thr) http://identifiers.org/clinvar/264402 ^@ NM_053025.3(MYLK):c.1219G>T (p.Gly407Cys) http://identifiers.org/clinvar/264322 ^@ NM_053025.3(MYLK):c.1134T>C (p.Arg378=) http://identifiers.org/clinvar/264282 ^@ NM_053025.3(MYLK):c.1133G>A (p.Arg378His) http://identifiers.org/clinvar/263952 ^@ NM_053025.3(MYLK):c.1110G>A (p.Glu370=) http://identifiers.org/clinvar/264267 ^@ NM_053025.3(MYLK):c.1075C>A (p.Pro359Thr) http://identifiers.org/clinvar/263916 ^@ NM_053025.3(MYLK):c.993G>A (p.Thr331=) http://identifiers.org/clinvar/264468 ^@ NM_053025.3(MYLK):c.619G>A (p.Val207Met) http://identifiers.org/clinvar/263951 ^@ NM_053025.3(MYLK):c.435A>C (p.Ser145=) http://identifiers.org/clinvar/264342 ^@ NM_053025.3(MYLK):c.382G>A (p.Ala128Thr) http://identifiers.org/clinvar/264312 ^@ NM_053025.3(MYLK):c.455G>A (p.Arg152His) http://identifiers.org/clinvar/263637 ^@ NM_002880.3(RAF1):c.1710T>C (p.Leu570=) http://identifiers.org/clinvar/264012 ^@ NM_053025.3(MYLK):c.333C>T (p.Gly111=) http://identifiers.org/clinvar/264209 ^@ NM_024334.2(TMEM43):c.-4C>T http://identifiers.org/clinvar/264174 ^@ NM_053025.3(MYLK):c.257G>A (p.Arg86Gln) http://identifiers.org/clinvar/264563 ^@ NM_002880.3(RAF1):c.1611A>G (p.Val537=) http://identifiers.org/clinvar/263911 ^@ NM_053025.3(MYLK):c.399G>T (p.Gln133His) http://identifiers.org/clinvar/263976 ^@ NM_053025.3(MYLK):c.24C>G (p.Ala8=) http://identifiers.org/clinvar/263617 ^@ NM_024334.2(TMEM43):c.91G>A (p.Glu31Lys) http://identifiers.org/clinvar/264100 ^@ NM_003242.5(TGFBR2):c.106A>G (p.Met36Val) http://identifiers.org/clinvar/264142 ^@ NM_002880.3(RAF1):c.142C>G (p.Leu48Val) http://identifiers.org/clinvar/264054 ^@ NM_024334.2(TMEM43):c.564C>T (p.Gly188=) http://identifiers.org/clinvar/263839 ^@ NM_003242.5(TGFBR2):c.649G>C (p.Ala217Pro) http://identifiers.org/clinvar/263589 ^@ NM_002880.3(RAF1):c.853A>G (p.Ser285Gly) http://identifiers.org/clinvar/264109 ^@ NM_024334.2(TMEM43):c.861C>G (p.His287Gln) http://identifiers.org/clinvar/264584 ^@ NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) http://identifiers.org/clinvar/263936 ^@ NM_003242.5(TGFBR2):c.678C>T (p.Asp226=) http://identifiers.org/clinvar/263881 ^@ NM_003242.5(TGFBR2):c.927G>A (p.Thr309=) http://identifiers.org/clinvar/263567 ^@ NM_003242.5(TGFBR2):c.1116G>A (p.Lys372=) http://identifiers.org/clinvar/263842 ^@ NM_003242.5(TGFBR2):c.594T>C (p.Ser198=) http://identifiers.org/clinvar/263412 ^@ NM_003242.5(TGFBR2):c.831G>T (p.Lys277Asn) http://identifiers.org/clinvar/263908 ^@ NM_001024847.2(TGFBR2):c.822G>A (p.Leu274=) http://identifiers.org/clinvar/264397 ^@ NM_003242.5(TGFBR2):c.1189G>A (p.Asp397Asn) http://identifiers.org/clinvar/263559 ^@ NM_003242.5(TGFBR2):c.1136A>T (p.Asp379Val) http://identifiers.org/clinvar/263413 ^@ NM_003242.5(TGFBR2):c.1458C>T (p.Ser486=) http://identifiers.org/clinvar/263878 ^@ NM_003242.5(TGFBR2):c.1153A>G (p.Ile385Val) http://identifiers.org/clinvar/264260 ^@ NM_003242.5(TGFBR2):c.1178G>A (p.Cys393Tyr) http://identifiers.org/clinvar/263399 ^@ NM_003242.5(TGFBR2):c.1261A>G (p.Thr421Ala) http://identifiers.org/clinvar/263822 ^@ NM_003242.5(TGFBR2):c.1334C>A (p.Thr445Asn) http://identifiers.org/clinvar/263867 ^@ NM_001024847.2(TGFBR2):c.1282C>T (p.Arg428Cys) http://identifiers.org/clinvar/263656 ^@ NM_015141.3(GPD1L):c.465C>T (p.Ala155=) http://identifiers.org/clinvar/263334 ^@ NM_003242.5(TGFBR2):c.1565A>T (p.Asp522Val) http://identifiers.org/clinvar/263948 ^@ NM_198056.2(SCN5A):c.5796G>C (p.Ala1932=) http://identifiers.org/clinvar/263423 ^@ NM_198056.2(SCN5A):c.4719C>T (p.Gly1573=) http://identifiers.org/clinvar/264276 ^@ NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter) http://identifiers.org/clinvar/264236 ^@ NM_198056.2(SCN5A):c.4018G>C (p.Val1340Leu) http://identifiers.org/clinvar/263970 ^@ NM_198056.2(SCN5A):c.4404C>T (p.Val1468=) http://identifiers.org/clinvar/264629 ^@ NM_015141.3(GPD1L):c.651C>T (p.Asp217=) http://identifiers.org/clinvar/263971 ^@ NM_198056.2(SCN5A):c.1902G>A (p.Ser634=) http://identifiers.org/clinvar/264039 ^@ NM_198056.2(SCN5A):c.4423delC (p.Gln1475Asnfs) http://identifiers.org/clinvar/263711 ^@ NM_000258.2(MYL3):c.477G>A (p.Thr159=) http://identifiers.org/clinvar/264329 ^@ NM_198056.2(SCN5A):c.3192G>A (p.Glu1064=) http://identifiers.org/clinvar/264627 ^@ NM_198056.2(SCN5A):c.3318C>T (p.Ala1106=) http://identifiers.org/clinvar/264251 ^@ NM_001148.4(ANK2):c.130C>G (p.Leu44Val) http://identifiers.org/clinvar/264144 ^@ NM_198056.2(SCN5A):c.1335C>T (p.His445=) http://identifiers.org/clinvar/264022 ^@ NM_198056.2(SCN5A):c.1035C>T (p.Gly345=) http://identifiers.org/clinvar/264162 ^@ NM_000258.2(MYL3):c.400G>A (p.Val134Met) http://identifiers.org/clinvar/264493 ^@ NM_001148.4(ANK2):c.645C>T (p.Asp215=) http://identifiers.org/clinvar/264378 ^@ NM_000258.2(MYL3):c.286C>T (p.Leu96=) http://identifiers.org/clinvar/264393 ^@ NM_198056.2(SCN5A):c.2184A>T (p.Val728=) http://identifiers.org/clinvar/264488 ^@ NM_001148.4(ANK2):c.997C>T (p.Leu333=) http://identifiers.org/clinvar/264406 ^@ NM_198056.2(SCN5A):c.681G>A (p.Leu227=) http://identifiers.org/clinvar/264372 ^@ NM_001148.4(ANK2):c.1995A>G (p.Pro665=) http://identifiers.org/clinvar/264147 ^@ NM_033337.2(CAV3):c.110T>C (p.Val37Ala) http://identifiers.org/clinvar/264395 ^@ NM_001148.4(ANK2):c.2063T>A (p.Ile688Asn) http://identifiers.org/clinvar/264571 ^@ NM_001148.4(ANK2):c.2127T>C (p.Asn709=) http://identifiers.org/clinvar/264458 ^@ NM_001148.4(ANK2):c.2424C>T (p.Ser808=) http://identifiers.org/clinvar/263741 ^@ NM_001148.4(ANK2):c.4883A>G (p.Lys1628Arg) http://identifiers.org/clinvar/264572 ^@ NM_001148.4(ANK2):c.2712C>T (p.Ser904=) http://identifiers.org/clinvar/264074 ^@ NM_001148.4(ANK2):c.1173G>A (p.Pro391=) http://identifiers.org/clinvar/263473 ^@ NM_001148.4(ANK2):c.3136C>T (p.Leu1046=) http://identifiers.org/clinvar/263475 ^@ NM_001148.4(ANK2):c.2337C>T (p.Val779=) http://identifiers.org/clinvar/263709 ^@ NM_001148.4(ANK2):c.4456G>C (p.Val1486Leu) http://identifiers.org/clinvar/264303 ^@ NM_001148.4(ANK2):c.5231C>A (p.Ala1744Asp) http://identifiers.org/clinvar/263614 ^@ NM_001148.4(ANK2):c.5240C>G (p.Pro1747Arg) http://identifiers.org/clinvar/263628 ^@ NM_001148.4(ANK2):c.5985G>A (p.Lys1995=) http://identifiers.org/clinvar/264575 ^@ NM_001148.4(ANK2):c.5313G>A (p.Lys1771=) http://identifiers.org/clinvar/263680 ^@ NM_001148.4(ANK2):c.6629T>G (p.Val2210Gly) http://identifiers.org/clinvar/263766 ^@ NM_001148.4(ANK2):c.6906C>T (p.Thr2302=) http://identifiers.org/clinvar/264526 ^@ NM_001148.4(ANK2):c.7685C>T (p.Pro2562Leu) http://identifiers.org/clinvar/263767 ^@ NM_001148.4(ANK2):c.8658A>G (p.Leu2886=) http://identifiers.org/clinvar/263620 ^@ NM_001148.4(ANK2):c.5017A>G (p.Arg1673Gly) http://identifiers.org/clinvar/264392 ^@ NM_001148.4(ANK2):c.5754C>T (p.Pro1918=) http://identifiers.org/clinvar/263654 ^@ NM_001148.4(ANK2):c.7834A>G (p.Lys2612Glu) http://identifiers.org/clinvar/264281 ^@ NM_001148.4(ANK2):c.7245C>T (p.Ser2415=) http://identifiers.org/clinvar/264511 ^@ NM_001148.4(ANK2):c.8727C>T (p.Pro2909=) http://identifiers.org/clinvar/264239 ^@ NM_001148.4(ANK2):c.8892C>G (p.Ile2964Met) http://identifiers.org/clinvar/263786 ^@ NM_001148.4(ANK2):c.9704C>T (p.Pro3235Leu) http://identifiers.org/clinvar/263634 ^@ NM_001148.4(ANK2):c.9825T>G (p.Asp3275Glu) http://identifiers.org/clinvar/263533 ^@ NM_001148.4(ANK2):c.9968G>A (p.Ser3323Asn) http://identifiers.org/clinvar/263514 ^@ NM_001148.4(ANK2):c.9438T>C (p.Asp3146=) http://identifiers.org/clinvar/264478 ^@ NM_001148.4(ANK2):c.10310T>C (p.Ile3437Thr) http://identifiers.org/clinvar/264145 ^@ NM_001148.4(ANK2):c.10805G>A (p.Arg3602Gln) http://identifiers.org/clinvar/264094 ^@ NM_001148.4(ANK2):c.11587G>A (p.Asp3863Asn) http://identifiers.org/clinvar/263471 ^@ NM_001999.3(FBN2):c.8597G>T (p.Gly2866Val) http://identifiers.org/clinvar/263810 ^@ NM_001999.3(FBN2):c.8513A>G (p.Gln2838Arg) http://identifiers.org/clinvar/263395 ^@ NM_001999.3(FBN2):c.8589C>T (p.Leu2863=) http://identifiers.org/clinvar/263929 ^@ NM_001999.3(FBN2):c.8481C>G (p.Pro2827=) http://identifiers.org/clinvar/264120 ^@ NM_001999.3(FBN2):c.8196C>T (p.His2732=) http://identifiers.org/clinvar/264179 ^@ NM_001999.3(FBN2):c.8119A>C (p.Asn2707His) http://identifiers.org/clinvar/264027 ^@ NM_001999.3(FBN2):c.8193-4A>G http://identifiers.org/clinvar/263329 ^@ NM_001999.3(FBN2):c.8035G>T (p.Ala2679Ser) http://identifiers.org/clinvar/264359 ^@ NM_001999.3(FBN2):c.7963G>A (p.Glu2655Lys) http://identifiers.org/clinvar/263521 ^@ NM_001999.3(FBN2):c.7938C>T (p.His2646=) http://identifiers.org/clinvar/264343 ^@ NM_001999.3(FBN2):c.7879G>A (p.Gly2627Ser) http://identifiers.org/clinvar/263687 ^@ NM_001999.3(FBN2):c.7653G>C (p.Leu2551=) http://identifiers.org/clinvar/263894 ^@ NM_001999.3(FBN2):c.7418G>A (p.Arg2473Gln) http://identifiers.org/clinvar/264176 ^@ NM_001999.3(FBN2):c.7824C>T (p.Thr2608=) http://identifiers.org/clinvar/264344 ^@ NM_001999.3(FBN2):c.6903G>T (p.Gly2301=) http://identifiers.org/clinvar/263827 ^@ NM_001999.3(FBN2):c.7250G>T (p.Gly2417Val) http://identifiers.org/clinvar/263569 ^@ NM_001999.3(FBN2):c.7212C>T (p.Leu2404=) http://identifiers.org/clinvar/263995 ^@ NM_001999.3(FBN2):c.7565T>C (p.Val2522Ala) http://identifiers.org/clinvar/264587 ^@ NM_001999.3(FBN2):c.6638-2A>C http://identifiers.org/clinvar/263964 ^@ NM_001999.3(FBN2):c.6989G>A (p.Arg2330Lys) http://identifiers.org/clinvar/264615 ^@ NM_001999.3(FBN2):c.6687C>T (p.Thr2229=) http://identifiers.org/clinvar/264450 ^@ NM_001999.3(FBN2):c.5787G>A (p.Gln1929=) http://identifiers.org/clinvar/263522 ^@ NM_001999.3(FBN2):c.6834G>A (p.Thr2278=) http://identifiers.org/clinvar/263684 ^@ NM_001999.3(FBN2):c.4829T>C (p.Leu1610Pro) http://identifiers.org/clinvar/263464 ^@ NM_001999.3(FBN2):c.6118A>G (p.Arg2040Gly) http://identifiers.org/clinvar/263342 ^@ NM_001999.3(FBN2):c.4994A>G (p.Asn1665Ser) http://identifiers.org/clinvar/264412 ^@ NM_001999.3(FBN2):c.6764A>G (p.Asn2255Ser) http://identifiers.org/clinvar/263328 ^@ NM_001999.3(FBN2):c.5531T>C (p.Leu1844Pro) http://identifiers.org/clinvar/263771 ^@ NM_001999.3(FBN2):c.4495A>C (p.Asn1499His) http://identifiers.org/clinvar/263401 ^@ NM_001999.3(FBN2):c.6077C>T (p.Ser2026Phe) http://identifiers.org/clinvar/264519 ^@ NM_001999.3(FBN2):c.4402G>A (p.Val1468Ile) http://identifiers.org/clinvar/263332 ^@ NM_001999.3(FBN2):c.4559G>T (p.Gly1520Val) http://identifiers.org/clinvar/264422 ^@ NM_001999.3(FBN2):c.4316G>A (p.Gly1439Asp) http://identifiers.org/clinvar/263579 ^@ NM_001999.3(FBN2):c.4938C>T (p.Ile1646=) http://identifiers.org/clinvar/264121 ^@ NM_001999.3(FBN2):c.3884A>G (p.Asp1295Gly) http://identifiers.org/clinvar/264532 ^@ NM_001999.3(FBN2):c.4311C>T (p.Ser1437=) http://identifiers.org/clinvar/263838 ^@ NM_001999.3(FBN2):c.4407G>A (p.Pro1469=) http://identifiers.org/clinvar/263905 ^@ NM_001999.3(FBN2):c.3144C>T (p.Tyr1048=) http://identifiers.org/clinvar/263631 ^@ NM_001999.3(FBN2):c.3958A>G (p.Met1320Val) http://identifiers.org/clinvar/263821 ^@ NM_001999.3(FBN2):c.4184G>T (p.Cys1395Phe) http://identifiers.org/clinvar/263934 ^@ NM_001999.3(FBN2):c.2777C>A (p.Ala926Asp) http://identifiers.org/clinvar/263857 ^@ NM_001999.3(FBN2):c.1720A>G (p.Ile574Val) http://identifiers.org/clinvar/264140 ^@ NM_001999.3(FBN2):c.3490C>T (p.Arg1164Cys) http://identifiers.org/clinvar/264004 ^@ NM_001999.3(FBN2):c.3702G>A (p.Thr1234=) http://identifiers.org/clinvar/263966 ^@ NM_001999.3(FBN2):c.2978G>A (p.Arg993His) http://identifiers.org/clinvar/263830 ^@ NM_001999.3(FBN2):c.2856G>A (p.Thr952=) http://identifiers.org/clinvar/263840 ^@ NM_001999.3(FBN2):c.3342G>A (p.Thr1114=) http://identifiers.org/clinvar/264426 ^@ NM_001999.3(FBN2):c.2557A>C (p.Ile853Leu) http://identifiers.org/clinvar/263337 ^@ NM_001999.3(FBN2):c.1180C>T (p.Arg394Cys) http://identifiers.org/clinvar/263817 ^@ NM_001999.3(FBN2):c.1466-4G>A http://identifiers.org/clinvar/263387 ^@ NM_001999.3(FBN2):c.891C>A (p.Gly297=) http://identifiers.org/clinvar/263906 ^@ NM_001999.3(FBN2):c.2365G>A (p.Gly789Ser) http://identifiers.org/clinvar/264520 ^@ NM_001999.3(FBN2):c.1423G>A (p.Gly475Ser) http://identifiers.org/clinvar/263852 ^@ NM_001999.3(FBN2):c.2836G>T (p.Ala946Ser) http://identifiers.org/clinvar/264096 ^@ NM_001999.3(FBN2):c.761G>C (p.Cys254Ser) http://identifiers.org/clinvar/263489 ^@ NM_001999.3(FBN2):c.1804delT (p.Cys602Alafs) http://identifiers.org/clinvar/263417 ^@ NM_001999.3(FBN2):c.671T>C (p.Met224Thr) http://identifiers.org/clinvar/264204 ^@ NM_001999.3(FBN2):c.362A>G (p.Asp121Gly) http://identifiers.org/clinvar/264225 ^@ NM_001999.3(FBN2):c.1194C>T (p.Ile398=) http://identifiers.org/clinvar/263836 ^@ NM_001999.3(FBN2):c.523T>C (p.Cys175Arg) http://identifiers.org/clinvar/264428 ^@ NM_001999.3(FBN2):c.244G>A (p.Val82Met) http://identifiers.org/clinvar/263643 ^@ NM_001999.3(FBN2):c.756G>T (p.Glu252Asp) http://identifiers.org/clinvar/264038 ^@ NM_002290.4(LAMA4):c.5384C>A (p.Pro1795Gln) http://identifiers.org/clinvar/264264 ^@ NM_002290.4(LAMA4):c.4214T>C (p.Leu1405Pro) http://identifiers.org/clinvar/264165 ^@ NM_001999.3(FBN2):c.294C>T (p.Cys98=) http://identifiers.org/clinvar/264592 ^@ NM_002290.4(LAMA4):c.3683G>C (p.Arg1228Pro) http://identifiers.org/clinvar/264298 ^@ NM_002290.4(LAMA4):c.4113-1G>A http://identifiers.org/clinvar/264217 ^@ NM_002290.4(LAMA4):c.1179C>T (p.Asn393=) http://identifiers.org/clinvar/264250 ^@ NM_002290.4(LAMA4):c.3573C>A (p.Phe1191Leu) http://identifiers.org/clinvar/264241 ^@ NM_006073.3(TRDN):c.1282C>G (p.Arg428Gly) http://identifiers.org/clinvar/264327 ^@ NM_006073.3(TRDN):c.911C>T (p.Pro304Leu) http://identifiers.org/clinvar/264376 ^@ NM_006073.3(TRDN):c.375C>T (p.Asp125=) http://identifiers.org/clinvar/264319 ^@ NM_002290.4(LAMA4):c.3351T>C (p.Asp1117=) http://identifiers.org/clinvar/264605 ^@ NM_004100.4(EYA4):c.550A>G (p.Thr184Ala) http://identifiers.org/clinvar/264484 ^@ NM_002290.4(LAMA4):c.853G>A (p.Glu285Lys) http://identifiers.org/clinvar/264447 ^@ NM_004100.4(EYA4):c.131G>A (p.Gly44Asp) http://identifiers.org/clinvar/264151 ^@ NM_006073.3(TRDN):c.1011G>A (p.Lys337=) http://identifiers.org/clinvar/263729 ^@ NM_004415.3(DSP):c.1090A>G (p.Ile364Val) http://identifiers.org/clinvar/264130 ^@ NM_006073.3(TRDN):c.367G>A (p.Asp123Asn) http://identifiers.org/clinvar/263984 ^@ NM_006073.3(TRDN):c.482A>G (p.Lys161Arg) http://identifiers.org/clinvar/263420 ^@ NM_004100.4(EYA4):c.179G>T (p.Ser60Ile) http://identifiers.org/clinvar/264110 ^@ NM_004415.3(DSP):c.667G>A (p.Gly223Ser) http://identifiers.org/clinvar/264203 ^@ NM_004415.3(DSP):c.774G>C (p.Leu258=) http://identifiers.org/clinvar/264336 ^@ NM_004100.4(EYA4):c.1078C>A (p.Pro360Thr) http://identifiers.org/clinvar/264019 ^@ NM_004415.3(DSP):c.2122G>A (p.Glu708Lys) http://identifiers.org/clinvar/264035 ^@ NM_004415.3(DSP):c.3922C>T (p.Arg1308Trp) http://identifiers.org/clinvar/264015 ^@ NM_004415.3(DSP):c.4353_4357delGAGAC (p.Arg1452Serfs) http://identifiers.org/clinvar/264133 ^@ NM_004415.3(DSP):c.4836C>T (p.Ile1612=) http://identifiers.org/clinvar/264195 ^@ NM_004415.3(DSP):c.6496C>A (p.Arg2166=) http://identifiers.org/clinvar/264512 ^@ NM_004415.3(DSP):c.3195C>G (p.Tyr1065Ter) http://identifiers.org/clinvar/263436 ^@ NM_004415.3(DSP):c.5542A>G (p.Arg1848Gly) http://identifiers.org/clinvar/263657 ^@ NM_004415.3(DSP):c.3877A>G (p.Ile1293Val) http://identifiers.org/clinvar/263534 ^@ NM_004415.3(DSP):c.6772A>G (p.Ser2258Gly) http://identifiers.org/clinvar/264442 ^@ NM_004415.3(DSP):c.7644A>T (p.Arg2548=) http://identifiers.org/clinvar/264394 ^@ NM_004415.3(DSP):c.7738G>T (p.Asp2580Tyr) http://identifiers.org/clinvar/263576 ^@ NM_004415.3(DSP):c.4401A>G (p.Gln1467=) http://identifiers.org/clinvar/264254 ^@ NM_004415.3(DSP):c.5991G>A (p.Gly1997=) http://identifiers.org/clinvar/263528 ^@ NM_004415.3(DSP):c.6902T>C (p.Ile2301Thr) http://identifiers.org/clinvar/264550 ^@ NM_004415.3(DSP):c.4752G>A (p.Ala1584=) http://identifiers.org/clinvar/263733 ^@ NM_004415.3(DSP):c.6441C>T (p.Val2147=) http://identifiers.org/clinvar/263803 ^@ NM_004415.3(DSP):c.8188delC (p.Gln2730Serfs) http://identifiers.org/clinvar/264265 ^@ NM_004415.3(DSP):c.6927G>A (p.Arg2309=) http://identifiers.org/clinvar/263736 ^@ NM_000238.3(KCNH2):c.2595C>T (p.Thr865=) http://identifiers.org/clinvar/264446 ^@ NM_000238.3(KCNH2):c.695G>T (p.Arg232Leu) http://identifiers.org/clinvar/264155 ^@ NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) http://identifiers.org/clinvar/264098 ^@ NM_000238.3(KCNH2):c.1557+1G>A http://identifiers.org/clinvar/264025 ^@ NM_000238.3(KCNH2):c.980A>G (p.Tyr327Cys) http://identifiers.org/clinvar/264521 ^@ NM_000238.3(KCNH2):c.212G>A (p.Gly71Glu) http://identifiers.org/clinvar/264633 ^@ NM_000238.3(KCNH2):c.2343C>G (p.Phe781Leu) http://identifiers.org/clinvar/263384 ^@ NM_016203.3(PRKAG2):c.66C>G (p.Gly22=) http://identifiers.org/clinvar/263739 ^@ NM_000238.3(KCNH2):c.156C>T (p.Cys52=) http://identifiers.org/clinvar/264104 ^@ NM_000238.3(KCNH2):c.234_241delTGCCGCGC (p.Ala79Aspfs) http://identifiers.org/clinvar/263797 ^@ NM_000722.3(CACNA2D1):c.3134A>C (p.Asp1045Ala) http://identifiers.org/clinvar/264507 ^@ NM_000722.3(CACNA2D1):c.3218T>C (p.Ile1073Thr) http://identifiers.org/clinvar/263754 ^@ NM_000722.3(CACNA2D1):c.1919A>G (p.Asn640Ser) http://identifiers.org/clinvar/264385 ^@ NM_001077653.2(TBX20):c.414G>A (p.Ser138=) http://identifiers.org/clinvar/264191 ^@ NM_000722.3(CACNA2D1):c.1416A>G (p.Gln472=) http://identifiers.org/clinvar/263618 ^@ NM_000722.3(CACNA2D1):c.2673A>G (p.Val891=) http://identifiers.org/clinvar/264275 ^@ NM_000722.3(CACNA2D1):c.1259G>A (p.Arg420Lys) http://identifiers.org/clinvar/263381 ^@ NM_005751.4(AKAP9):c.876_878delAGA (p.Glu292del) http://identifiers.org/clinvar/264506 ^@ NM_005751.4(AKAP9):c.2301A>G (p.Gln767=) http://identifiers.org/clinvar/264371 ^@ NM_000722.3(CACNA2D1):c.960C>T (p.Asp320=) http://identifiers.org/clinvar/263455 ^@ NM_005751.4(AKAP9):c.1890A>G (p.Leu630=) http://identifiers.org/clinvar/264510 ^@ NM_005751.4(AKAP9):c.1651A>G (p.Ile551Val) http://identifiers.org/clinvar/264556 ^@ NM_000722.3(CACNA2D1):c.2333C>T (p.Ser778Leu) http://identifiers.org/clinvar/263722 ^@ NM_000722.3(CACNA2D1):c.1141A>G (p.Lys381Glu) http://identifiers.org/clinvar/263785 ^@ NM_005751.4(AKAP9):c.948A>G (p.Val316=) http://identifiers.org/clinvar/264418 ^@ NM_005751.4(AKAP9):c.2475T>G (p.Leu825=) http://identifiers.org/clinvar/263768 ^@ NM_005751.4(AKAP9):c.2782T>C (p.Leu928=) http://identifiers.org/clinvar/264338 ^@ NM_005751.4(AKAP9):c.2793T>A (p.Gly931=) http://identifiers.org/clinvar/264113 ^@ NM_005751.4(AKAP9):c.2865G>A (p.Leu955=) http://identifiers.org/clinvar/264595 ^@ NM_005751.4(AKAP9):c.3068T>A (p.Val1023Asp) http://identifiers.org/clinvar/264112 ^@ NM_005751.4(AKAP9):c.4360G>A (p.Ala1454Thr) http://identifiers.org/clinvar/263742 ^@ NM_005751.4(AKAP9):c.4396G>A (p.Gly1466Arg) http://identifiers.org/clinvar/264084 ^@ NM_005751.4(AKAP9):c.4696C>A (p.His1566Asn) http://identifiers.org/clinvar/263600 ^@ NM_005751.4(AKAP9):c.4724A>T (p.Asp1575Val) http://identifiers.org/clinvar/264308 ^@ NM_005751.4(AKAP9):c.5271A>G (p.Leu1757=) http://identifiers.org/clinvar/264569 ^@ NM_005751.4(AKAP9):c.5568A>T (p.Lys1856Asn) http://identifiers.org/clinvar/263999 ^@ NM_005751.4(AKAP9):c.5616A>G (p.Lys1872=) http://identifiers.org/clinvar/263749 ^@ NM_005751.4(AKAP9):c.5911G>A (p.Glu1971Lys) http://identifiers.org/clinvar/264046 ^@ NM_005751.4(AKAP9):c.6696A>G (p.Gln2232=) http://identifiers.org/clinvar/263446 ^@ NM_005751.4(AKAP9):c.6921A>G (p.Gln2307=) http://identifiers.org/clinvar/263540 ^@ NM_005751.4(AKAP9):c.7243G>A (p.Val2415Ile) http://identifiers.org/clinvar/263743 ^@ NM_005751.4(AKAP9):c.7486A>G (p.Asn2496Asp) http://identifiers.org/clinvar/263437 ^@ NM_005751.4(AKAP9):c.7628T>C (p.Leu2543Pro) http://identifiers.org/clinvar/263985 ^@ NM_005751.4(AKAP9):c.7775T>A (p.Leu2592Gln) http://identifiers.org/clinvar/263787 ^@ NM_005751.4(AKAP9):c.8336C>T (p.Ala2779Val) http://identifiers.org/clinvar/263541 ^@ NM_005751.4(AKAP9):c.8485G>A (p.Glu2829Lys) http://identifiers.org/clinvar/264513 ^@ NM_005751.4(AKAP9):c.8688G>A (p.Gln2896=) http://identifiers.org/clinvar/264086 ^@ NM_005751.4(AKAP9):c.10406C>T (p.Thr3469Met) http://identifiers.org/clinvar/264457 ^@ NM_005751.4(AKAP9):c.10714-3C>T http://identifiers.org/clinvar/263485 ^@ NM_005751.4(AKAP9):c.10880G>A (p.Gly3627Glu) http://identifiers.org/clinvar/264384 ^@ NM_005751.4(AKAP9):c.11234G>A (p.Gly3745Glu) http://identifiers.org/clinvar/263701 ^@ NM_005751.4(AKAP9):c.11580T>G (p.Gly3860=) http://identifiers.org/clinvar/264373 ^@ NM_021167.4(GATAD1):c.431A>G (p.Tyr144Cys) http://identifiers.org/clinvar/264495 ^@ NM_005751.4(AKAP9):c.11617G>A (p.Asp3873Asn) http://identifiers.org/clinvar/264472 ^@ NM_002052.4(GATA4):c.628G>T (p.Asp210Tyr) http://identifiers.org/clinvar/263447 ^@ NM_002052.4(GATA4):c.420T>G (p.Gly140=) http://identifiers.org/clinvar/264150 ^@ NM_001079802.1(FKTN):c.22G>T (p.Val8Leu) http://identifiers.org/clinvar/264047 ^@ NM_002052.4(GATA4):c.723C>T (p.Cys241=) http://identifiers.org/clinvar/264590 ^@ NM_001079802.1(FKTN):c.895A>C (p.Ser299Arg) http://identifiers.org/clinvar/264299 ^@ NM_001079802.1(FKTN):c.681G>A (p.Leu227=) http://identifiers.org/clinvar/264196 ^@ NM_001079802.1(FKTN):c.382C>T (p.Arg128Trp) http://identifiers.org/clinvar/264205 ^@ NM_000093.4(COL5A1):c.825C>T (p.Tyr275=) http://identifiers.org/clinvar/264522 ^@ NM_001079802.1(FKTN):c.1249G>A (p.Glu417Lys) http://identifiers.org/clinvar/264093 ^@ NM_001079802.1(FKTN):c.625C>T (p.Arg209Cys) http://identifiers.org/clinvar/263930 ^@ NM_000093.4(COL5A1):c.1140C>T (p.Thr380=) http://identifiers.org/clinvar/264547 ^@ NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) http://identifiers.org/clinvar/264049 ^@ NM_000093.4(COL5A1):c.1024C>T (p.Pro342Ser) http://identifiers.org/clinvar/263968 ^@ NM_000093.4(COL5A1):c.295G>T (p.Asp99Tyr) http://identifiers.org/clinvar/264078 ^@ NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) http://identifiers.org/clinvar/264321 ^@ NM_000093.4(COL5A1):c.1333-3dupC http://identifiers.org/clinvar/264164 ^@ NM_000093.4(COL5A1):c.3600G>A (p.Pro1200=) http://identifiers.org/clinvar/264313 ^@ NM_000093.4(COL5A1):c.1430C>T (p.Ala477Val) http://identifiers.org/clinvar/264062 ^@ NM_000093.4(COL5A1):c.1754C>T (p.Pro585Leu) http://identifiers.org/clinvar/264028 ^@ NM_000093.4(COL5A1):c.2238C>T (p.Pro746=) http://identifiers.org/clinvar/264099 ^@ NM_000093.4(COL5A1):c.3096T>A (p.Ala1032=) http://identifiers.org/clinvar/264002 ^@ NM_000093.4(COL5A1):c.3987C>T (p.Pro1329=) http://identifiers.org/clinvar/264411 ^@ NM_000093.4(COL5A1):c.3649C>T (p.Pro1217Ser) http://identifiers.org/clinvar/264527 ^@ NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) http://identifiers.org/clinvar/263949 ^@ NM_000093.4(COL5A1):c.4554+3G>A http://identifiers.org/clinvar/264088 ^@ NM_000093.4(COL5A1):c.3014C>T (p.Thr1005Met) http://identifiers.org/clinvar/264544 ^@ NM_000093.4(COL5A1):c.3303C>T (p.Ile1101=) http://identifiers.org/clinvar/264503 ^@ NM_017617.4(NOTCH1):c.*5C>T http://identifiers.org/clinvar/264234 ^@ NM_000093.4(COL5A1):c.3698C>T (p.Pro1233Leu) http://identifiers.org/clinvar/264045 ^@ NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) http://identifiers.org/clinvar/263994 ^@ NM_000093.4(COL5A1):c.5280C>T (p.Tyr1760=) http://identifiers.org/clinvar/264535 ^@ NM_017617.4(NOTCH1):c.7289G>C (p.Gly2430Ala) http://identifiers.org/clinvar/264190 ^@ NM_000093.4(COL5A1):c.3753G>A (p.Pro1251=) http://identifiers.org/clinvar/263974 ^@ NM_017617.4(NOTCH1):c.7291C>T (p.Arg2431Trp) http://identifiers.org/clinvar/264594 ^@ NM_017617.4(NOTCH1):c.6685G>A (p.Val2229Met) http://identifiers.org/clinvar/264082 ^@ NM_017617.4(NOTCH1):c.6636C>T (p.Asp2212=) http://identifiers.org/clinvar/264439 ^@ NM_000093.4(COL5A1):c.4782C>T (p.Asp1594=) http://identifiers.org/clinvar/264349 ^@ NM_017617.4(NOTCH1):c.7363A>G (p.Thr2455Ala) http://identifiers.org/clinvar/264454 ^@ NM_017617.4(NOTCH1):c.7150C>G (p.Gln2384Glu) http://identifiers.org/clinvar/264007 ^@ NM_000093.4(COL5A1):c.5223C>T (p.Asn1741=) http://identifiers.org/clinvar/264003 ^@ NM_017617.4(NOTCH1):c.6521A>G (p.Lys2174Arg) http://identifiers.org/clinvar/264070 ^@ NM_017617.4(NOTCH1):c.7311G>T (p.Glu2437Asp) http://identifiers.org/clinvar/264614 ^@ NM_017617.4(NOTCH1):c.6397C>T (p.Pro2133Ser) http://identifiers.org/clinvar/264243 ^@ NM_017617.4(NOTCH1):c.6228C>T (p.Thr2076=) http://identifiers.org/clinvar/264050 ^@ NM_017617.4(NOTCH1):c.6222C>T (p.Tyr2074=) http://identifiers.org/clinvar/264290 ^@ NM_017617.4(NOTCH1):c.6054C>T (p.His2018=) http://identifiers.org/clinvar/264006 ^@ NM_017617.4(NOTCH1):c.6960G>A (p.Pro2320=) http://identifiers.org/clinvar/264008 ^@ NM_017617.4(NOTCH1):c.5967T>C (p.Asp1989=) http://identifiers.org/clinvar/264443 ^@ NM_017617.4(NOTCH1):c.6429C>T (p.Asn2143=) http://identifiers.org/clinvar/264419 ^@ NM_017617.4(NOTCH1):c.5776C>T (p.Arg1926Cys) http://identifiers.org/clinvar/263950 ^@ NM_017617.4(NOTCH1):c.5690C>T (p.Thr1897Met) http://identifiers.org/clinvar/263917 ^@ NM_017617.4(NOTCH1):c.6130G>A (p.Ala2044Thr) http://identifiers.org/clinvar/264552 ^@ NM_017617.4(NOTCH1):c.5723C>T (p.Ala1908Val) http://identifiers.org/clinvar/264031 ^@ NM_017617.4(NOTCH1):c.5500C>T (p.Leu1834=) http://identifiers.org/clinvar/263870 ^@ NM_017617.4(NOTCH1):c.4917C>T (p.Ala1639=) http://identifiers.org/clinvar/264333 ^@ NM_017617.4(NOTCH1):c.4652G>T (p.Ser1551Ile) http://identifiers.org/clinvar/264538 ^@ NM_017617.4(NOTCH1):c.4626C>T (p.Asp1542=) http://identifiers.org/clinvar/264030 ^@ NM_017617.4(NOTCH1):c.5673C>T (p.Ser1891=) http://identifiers.org/clinvar/264014 ^@ NM_017617.4(NOTCH1):c.4024G>A (p.Gly1342Ser) http://identifiers.org/clinvar/263902 ^@ NM_017617.4(NOTCH1):c.4887C>T (p.His1629=) http://identifiers.org/clinvar/263913 ^@ NM_017617.4(NOTCH1):c.4078G>A (p.Gly1360Ser) http://identifiers.org/clinvar/263919 ^@ NM_017617.4(NOTCH1):c.4746G>A (p.Pro1582=) http://identifiers.org/clinvar/264557 ^@ NM_017617.4(NOTCH1):c.3597C>T (p.Leu1199=) http://identifiers.org/clinvar/264173 ^@ NM_017617.4(NOTCH1):c.2441A>G (p.Lys814Arg) http://identifiers.org/clinvar/264469 ^@ NM_017617.4(NOTCH1):c.4238G>A (p.Arg1413His) http://identifiers.org/clinvar/264398 ^@ NM_017617.4(NOTCH1):c.4551C>T (p.Asp1517=) http://identifiers.org/clinvar/264061 ^@ NM_017617.4(NOTCH1):c.3638C>G (p.Thr1213Ser) http://identifiers.org/clinvar/264180 ^@ NM_017617.4(NOTCH1):c.3115G>A (p.Gly1039Ser) http://identifiers.org/clinvar/264613 ^@ NM_017617.4(NOTCH1):c.3970G>A (p.Val1324Met) http://identifiers.org/clinvar/264403 ^@ NM_017617.4(NOTCH1):c.1950C>T (p.Cys650=) http://identifiers.org/clinvar/263986 ^@ NM_017617.4(NOTCH1):c.2068G>A (p.Gly690Arg) http://identifiers.org/clinvar/264433 ^@ NM_017617.4(NOTCH1):c.1775G>A (p.Arg592His) http://identifiers.org/clinvar/264380 ^@ NM_017617.4(NOTCH1):c.3104C>T (p.Thr1035Ile) http://identifiers.org/clinvar/264540 ^@ NM_017617.4(NOTCH1):c.1914C>T (p.Cys638=) http://identifiers.org/clinvar/264541 ^@ NM_017617.4(NOTCH1):c.1981G>A (p.Gly661Ser) http://identifiers.org/clinvar/264528 ^@ NM_017617.4(NOTCH1):c.1787C>T (p.Thr596Met) http://identifiers.org/clinvar/264537 ^@ NM_017617.4(NOTCH1):c.2813G>A (p.Arg938Gln) http://identifiers.org/clinvar/264037 ^@ NM_017617.4(NOTCH1):c.1374G>A (p.Ser458=) http://identifiers.org/clinvar/264178 ^@ NM_017617.4(NOTCH1):c.1962C>T (p.Thr654=) http://identifiers.org/clinvar/263914 ^@ NM_017617.4(NOTCH1):c.1701C>G (p.Ile567Met) http://identifiers.org/clinvar/264032 ^@ NM_017617.4(NOTCH1):c.1778C>T (p.Pro593Leu) http://identifiers.org/clinvar/264564 ^@ NM_017617.4(NOTCH1):c.1038C>T (p.His346=) http://identifiers.org/clinvar/263606 ^@ NM_000144.4(FXN):c.11_12delTC (p.Leu4Argfs) http://identifiers.org/clinvar/264263 ^@ NM_017617.4(NOTCH1):c.558C>T (p.Pro186=) http://identifiers.org/clinvar/264460 ^@ NM_000144.4(FXN):c.534C>T (p.Asp178=) http://identifiers.org/clinvar/264451 ^@ NM_000144.4(FXN):c.118C>T (p.Arg40Cys) http://identifiers.org/clinvar/263873 ^@ NM_004612.3(TGFBR1):c.73_78delGCGGCG (p.Ala25_Ala26del) http://identifiers.org/clinvar/263928 ^@ NM_004612.3(TGFBR1):c.32G>C (p.Arg11Pro) http://identifiers.org/clinvar/263584 ^@ NM_004612.3(TGFBR1):c.282T>C (p.Ser94=) http://identifiers.org/clinvar/263978 ^@ NM_004612.3(TGFBR1):c.587T>G (p.Leu196Arg) http://identifiers.org/clinvar/264044 ^@ NM_017617.4(NOTCH1):c.775G>A (p.Asp259Asn) http://identifiers.org/clinvar/263542 ^@ NM_000144.4(FXN):c.226A>G (p.Met76Val) http://identifiers.org/clinvar/263391 ^@ NM_004612.3(TGFBR1):c.70_74delGCGGC (p.Ala24Glyfs) http://identifiers.org/clinvar/264166 ^@ NM_004612.3(TGFBR1):c.611C>T (p.Thr204Ile) http://identifiers.org/clinvar/263773 ^@ NM_004612.3(TGFBR1):c.757A>G (p.Met253Val) http://identifiers.org/clinvar/264407 ^@ NM_004612.3(TGFBR1):c.835G>C (p.Val279Leu) http://identifiers.org/clinvar/264034 ^@ NM_004612.3(TGFBR1):c.1041C>G (p.Cys347Trp) http://identifiers.org/clinvar/263993 ^@ NM_004612.3(TGFBR1):c.1136T>C (p.Met379Thr) http://identifiers.org/clinvar/264193 ^@ NM_004612.3(TGFBR1):c.1301C>G (p.Ser434Cys) http://identifiers.org/clinvar/263856 ^@ NM_004612.3(TGFBR1):c.1302_1303dupTG (p.Asp435Valfs) http://identifiers.org/clinvar/264499 ^@ NM_004612.3(TGFBR1):c.1457T>G (p.Leu486Trp) http://identifiers.org/clinvar/264341 ^@ NM_001134363.2(RBM20):c.1348C>T (p.Arg450Trp) http://identifiers.org/clinvar/263443 ^@ NM_001134363.2(RBM20):c.1455A>G (p.Ser485=) http://identifiers.org/clinvar/263763 ^@ NM_001134363.2(RBM20):c.1807G>A (p.Gly603Arg) http://identifiers.org/clinvar/263478 ^@ NM_001134363.2(RBM20):c.2131C>T (p.Arg711Cys) http://identifiers.org/clinvar/263676 ^@ NM_001134363.2(RBM20):c.2359G>A (p.Glu787Lys) http://identifiers.org/clinvar/263590 ^@ NM_001134363.2(RBM20):c.3023G>C (p.Arg1008Pro) http://identifiers.org/clinvar/263655 ^@ NM_001134363.2(RBM20):c.3171G>T (p.Arg1057=) http://identifiers.org/clinvar/264207 ^@ NM_001134363.2(RBM20):c.3595G>A (p.Glu1199Lys) http://identifiers.org/clinvar/264328 ^@ NM_001134363.2(RBM20):c.3648C>T (p.Ser1216=) http://identifiers.org/clinvar/264102 ^@ NM_004281.3(BAG3):c.481C>T (p.Gln161Ter) http://identifiers.org/clinvar/264058 ^@ NM_004281.3(BAG3):c.1262G>A (p.Gly421Glu) http://identifiers.org/clinvar/264497 ^@ NM_004281.3(BAG3):c.679C>G (p.Gln227Glu) http://identifiers.org/clinvar/264518 ^@ NM_004281.3(BAG3):c.1292dupA (p.Val432Glyfs) http://identifiers.org/clinvar/264169 ^@ NM_004281.3(BAG3):c.1362C>T (p.Ile454=) http://identifiers.org/clinvar/263347 ^@ NM_201590.2(CACNB2):c.57G>A (p.Ser19=) http://identifiers.org/clinvar/264132 ^@ NM_201590.2(CACNB2):c.253G>T (p.Ala85Ser) http://identifiers.org/clinvar/264257 ^@ NM_201590.2(CACNB2):c.460T>C (p.Leu154=) http://identifiers.org/clinvar/263499 ^@ NM_201590.2(CACNB2):c.847A>G (p.Ser283Gly) http://identifiers.org/clinvar/264300 ^@ NM_201590.2(CACNB2):c.978T>C (p.His326=) http://identifiers.org/clinvar/264509 ^@ NM_201590.2(CACNB2):c.1508C>G (p.Ser503Trp) http://identifiers.org/clinvar/263903 ^@ NM_006258.3(PRKG1):c.676G>A (p.Glu226Lys) http://identifiers.org/clinvar/263893 ^@ NM_006258.3(PRKG1):c.888T>C (p.Leu296=) http://identifiers.org/clinvar/263888 ^@ NM_006258.3(PRKG1):c.1008T>C (p.Phe336=) http://identifiers.org/clinvar/264425 ^@ NM_006258.3(PRKG1):c.1173+4G>A http://identifiers.org/clinvar/264245 ^@ NM_032578.3(MYPN):c.628_630delTCT (p.Ser210del) http://identifiers.org/clinvar/264092 ^@ NM_032578.3(MYPN):c.903-4G>T http://identifiers.org/clinvar/264097 ^@ NM_006258.3(PRKG1):c.1811A>C (p.Asn604Thr) http://identifiers.org/clinvar/264161 ^@ NM_032578.3(MYPN):c.2654G>A (p.Arg885Gln) http://identifiers.org/clinvar/263796 ^@ NM_032578.3(MYPN):c.2802T>A (p.His934Gln) http://identifiers.org/clinvar/264273 ^@ NM_032578.3(MYPN):c.2550A>G (p.Arg850=) http://identifiers.org/clinvar/264277 ^@ NM_032578.3(MYPN):c.3935G>A (p.Arg1312Gln) http://identifiers.org/clinvar/264029 ^@ NM_006258.3(PRKG1):c.1299C>T (p.Ser433=) http://identifiers.org/clinvar/263734 ^@ NM_032578.3(MYPN):c.3653G>A (p.Arg1218Lys) http://identifiers.org/clinvar/263474 ^@ NM_014000.2(VCL):c.731T>A (p.Ile244Lys) http://identifiers.org/clinvar/264420 ^@ NM_014000.2(VCL):c.1856C>A (p.Ala619Glu) http://identifiers.org/clinvar/263345 ^@ NM_014000.2(VCL):c.1621C>G (p.Leu541Val) http://identifiers.org/clinvar/263378 ^@ NM_014000.2(VCL):c.2418A>G (p.Gly806=) http://identifiers.org/clinvar/264514 ^@ NM_032578.3(MYPN):c.1977T>C (p.Asp659=) http://identifiers.org/clinvar/264524 ^@ NM_032578.3(MYPN):c.3086G>T (p.Ser1029Ile) http://identifiers.org/clinvar/263421 ^@ NM_014000.2(VCL):c.1382C>G (p.Ala461Gly) http://identifiers.org/clinvar/263962 ^@ NM_014000.2(VCL):c.2875A>C (p.Asn959His) http://identifiers.org/clinvar/263430 ^@ NM_001613.2(ACTA2):c.977C>A (p.Thr326Asn) http://identifiers.org/clinvar/263926 ^@ NM_001613.2(ACTA2):c.940C>T (p.Arg314Ter) http://identifiers.org/clinvar/263863 ^@ NM_001613.2(ACTA2):c.936C>T (p.Ala312=) http://identifiers.org/clinvar/263843 ^@ NM_001613.2(ACTA2):c.896A>G (p.Asn299Ser) http://identifiers.org/clinvar/264363 ^@ NM_001613.2(ACTA2):c.767G>A (p.Arg256His) http://identifiers.org/clinvar/263578 ^@ NM_001613.2(ACTA2):c.766C>T (p.Arg256Cys) http://identifiers.org/clinvar/264311 ^@ NM_001613.2(ACTA2):c.593G>A (p.Arg198His) http://identifiers.org/clinvar/264095 ^@ NM_001613.2(ACTA2):c.591G>T (p.Glu197Asp) http://identifiers.org/clinvar/263819 ^@ NM_001613.2(ACTA2):c.592C>T (p.Arg198Cys) http://identifiers.org/clinvar/263639 ^@ NM_001613.2(ACTA2):c.496C>A (p.Pro166Thr) http://identifiers.org/clinvar/264091 ^@ NM_001613.2(ACTA2):c.420G>A (p.Ala140=) http://identifiers.org/clinvar/263402 ^@ NM_001613.2(ACTA2):c.323C>T (p.Thr108Met) http://identifiers.org/clinvar/263583 ^@ NM_001613.2(ACTA2):c.83C>T (p.Ala28Val) http://identifiers.org/clinvar/263386 ^@ NM_001613.2(ACTA2):c.78C>T (p.Asp26=) http://identifiers.org/clinvar/264067 ^@ NM_014391.2(ANKRD1):c.949G>C (p.Ala317Pro) http://identifiers.org/clinvar/264542 ^@ NM_014391.2(ANKRD1):c.751-4C>A http://identifiers.org/clinvar/264598 ^@ NM_014391.2(ANKRD1):c.651+4T>A http://identifiers.org/clinvar/263990 ^@ NM_014391.2(ANKRD1):c.154C>G (p.Pro52Ala) http://identifiers.org/clinvar/264247 ^@ NM_001885.2(CRYAB):c.324G>C (p.Gln108His) http://identifiers.org/clinvar/264183 ^@ NM_174934.3(SCN4B):c.594-2A>G http://identifiers.org/clinvar/264461 ^@ NM_004588.4(SCN2B):c.478G>A (p.Val160Met) http://identifiers.org/clinvar/264285 ^@ NM_018400.3(SCN3B):c.390G>T (p.Ala130=) http://identifiers.org/clinvar/263670 ^@ NM_018400.3(SCN3B):c.363T>C (p.Asn121=) http://identifiers.org/clinvar/263681 ^@ NM_018400.3(SCN3B):c.105C>T (p.Ala35=) http://identifiers.org/clinvar/263453 ^@ NM_003476.4(CSRP3):c.575delA (p.Lys192Argfs) http://identifiers.org/clinvar/264125 ^@ NM_000218.2(KCNQ1):c.345G>A (p.Glu115=) http://identifiers.org/clinvar/263738 ^@ NM_000218.2(KCNQ1):c.564G>A (p.Trp188Ter) http://identifiers.org/clinvar/263972 ^@ NM_000218.2(KCNQ1):c.629T>C (p.Met210Thr) http://identifiers.org/clinvar/264508 ^@ NM_000218.2(KCNQ1):c.642C>T (p.Cys214=) http://identifiers.org/clinvar/264075 ^@ NM_000218.2(KCNQ1):c.800A>T (p.Tyr267Phe) http://identifiers.org/clinvar/264431 ^@ NM_000218.2(KCNQ1):c.984C>T (p.Ile328=) http://identifiers.org/clinvar/264157 ^@ NM_000218.2(KCNQ1):c.1340C>A (p.Pro447His) http://identifiers.org/clinvar/264237 ^@ NM_000218.2(KCNQ1):c.1716G>A (p.Leu572=) http://identifiers.org/clinvar/263510 ^@ NM_000256.3(MYBPC3):c.3347T>C (p.Leu1116Ser) http://identifiers.org/clinvar/263598 ^@ NM_000256.3(MYBPC3):c.2961C>T (p.Val987=) http://identifiers.org/clinvar/263373 ^@ NM_000256.3(MYBPC3):c.2859A>G (p.Gly953=) http://identifiers.org/clinvar/263484 ^@ NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) http://identifiers.org/clinvar/264065 ^@ NM_000256.3(MYBPC3):c.2158G>T (p.Glu720Ter) http://identifiers.org/clinvar/264066 ^@ NM_000256.3(MYBPC3):c.2125G>A (p.Asp709Asn) http://identifiers.org/clinvar/264604 ^@ NM_000256.3(MYBPC3):c.2064G>A (p.Thr688=) http://identifiers.org/clinvar/264356 ^@ NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) http://identifiers.org/clinvar/264307 ^@ NM_000256.3(MYBPC3):c.1457+4A>G http://identifiers.org/clinvar/263980 ^@ NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) http://identifiers.org/clinvar/263572 ^@ NM_000256.3(MYBPC3):c.654+5G>C http://identifiers.org/clinvar/264628 ^@ NM_000256.3(MYBPC3):c.505G>A (p.Gly169Ser) http://identifiers.org/clinvar/264580 ^@ NM_000256.3(MYBPC3):c.348C>A (p.Ala116=) http://identifiers.org/clinvar/264211 ^@ NM_005472.4(KCNE3):c.26C>T (p.Thr9Ile) http://identifiers.org/clinvar/264266 ^@ NM_000432.3(MYL2):c.483C>A (p.His161Gln) http://identifiers.org/clinvar/263505 ^@ NM_000432.3(MYL2):c.456C>T (p.Tyr152=) http://identifiers.org/clinvar/264577 ^@ NM_000432.3(MYL2):c.23A>G (p.Lys8Arg) http://identifiers.org/clinvar/264357 ^@ NM_002834.4(PTPN11):c.1404G>A (p.Thr468=) http://identifiers.org/clinvar/264163 ^@ NM_000192.3(TBX5):c.836G>A (p.Arg279Gln) http://identifiers.org/clinvar/264278 ^@ NM_000192.3(TBX5):c.576T>C (p.Asn192=) http://identifiers.org/clinvar/264346 ^@ NM_000192.3(TBX5):c.260A>G (p.Tyr87Cys) http://identifiers.org/clinvar/264111 ^@ NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) http://identifiers.org/clinvar/264470 ^@ NM_000719.6(CACNA1C):c.107C>T (p.Ala36Val) http://identifiers.org/clinvar/264632 ^@ NM_000719.6(CACNA1C):c.247C>T (p.Arg83Trp) http://identifiers.org/clinvar/264525 ^@ NM_000719.6(CACNA1C):c.459C>T (p.Asn153=) http://identifiers.org/clinvar/264182 ^@ NM_004982.3(KCNJ8):c.471G>C (p.Thr157=) http://identifiers.org/clinvar/263769 ^@ NM_004982.3(KCNJ8):c.6G>T (p.Leu2Phe) http://identifiers.org/clinvar/263571 ^@ NM_005691.3(ABCC9):c.3076A>G (p.Asn1026Asp) http://identifiers.org/clinvar/263708 ^@ NM_005691.3(ABCC9):c.3057A>G (p.Thr1019=) http://identifiers.org/clinvar/263712 ^@ NM_005691.3(ABCC9):c.2238-4T>C http://identifiers.org/clinvar/264611 ^@ NM_005691.3(ABCC9):c.1320+1G>A http://identifiers.org/clinvar/264317 ^@ NM_005691.3(ABCC9):c.971G>A (p.Arg324His) http://identifiers.org/clinvar/263798 ^@ NM_000719.6(CACNA1C):c.1290A>G (p.Leu430=) http://identifiers.org/clinvar/264146 ^@ NM_000719.6(CACNA1C):c.724C>T (p.Leu242=) http://identifiers.org/clinvar/263744 ^@ NM_000719.6(CACNA1C):c.1419C>T (p.Ser473=) http://identifiers.org/clinvar/264623 ^@ NM_000719.6(CACNA1C):c.1420G>A (p.Val474Ile) http://identifiers.org/clinvar/263710 ^@ NM_000719.6(CACNA1C):c.2427C>T (p.Ile809=) http://identifiers.org/clinvar/264156 ^@ NM_000719.6(CACNA1C):c.2988C>T (p.Ile996=) http://identifiers.org/clinvar/263778 ^@ NM_000719.6(CACNA1C):c.3736C>T (p.Leu1246=) http://identifiers.org/clinvar/263682 ^@ NM_000719.6(CACNA1C):c.3904G>A (p.Glu1302Lys) http://identifiers.org/clinvar/263449 ^@ NM_000719.6(CACNA1C):c.4393T>C (p.Phe1465Leu) http://identifiers.org/clinvar/263422 ^@ NM_000719.6(CACNA1C):c.5865A>C (p.Pro1955=) http://identifiers.org/clinvar/264240 ^@ NM_000719.6(CACNA1C):c.5499G>A (p.Gln1833=) http://identifiers.org/clinvar/263448 ^@ NM_000719.6(CACNA1C):c.4075-4C>A http://identifiers.org/clinvar/263515 ^@ NM_000719.6(CACNA1C):c.5747A>G (p.Gln1916Arg) http://identifiers.org/clinvar/264555 ^@ NM_000719.6(CACNA1C):c.4761G>A (p.Ala1587=) http://identifiers.org/clinvar/263604 ^@ NM_000719.6(CACNA1C):c.6213A>T (p.Ile2071=) http://identifiers.org/clinvar/263379 ^@ NM_000719.6(CACNA1C):c.5898A>C (p.Pro1966=) http://identifiers.org/clinvar/263770 ^@ NM_000719.6(CACNA1C):c.6007G>A (p.Gly2003Arg) http://identifiers.org/clinvar/263765 ^@ NM_004572.3(PKP2):c.1672G>A (p.Val558Ile) http://identifiers.org/clinvar/263367 ^@ NM_003276.2(TMPO):c.264A>C (p.Arg88=) http://identifiers.org/clinvar/263794 ^@ NM_004572.3(PKP2):c.1419_1421delCGCinsTGT (p.Ala474Val) http://identifiers.org/clinvar/264630 ^@ NM_000719.6(CACNA1C):c.5873C>T (p.Thr1958Ile) http://identifiers.org/clinvar/263354 ^@ NM_003276.2(TMPO):c.977T>C (p.Val326Ala) http://identifiers.org/clinvar/264387 ^@ NM_004572.3(PKP2):c.467C>T (p.Pro156Leu) http://identifiers.org/clinvar/264570 ^@ NM_004572.3(PKP2):c.2561A>T (p.His854Leu) http://identifiers.org/clinvar/263441 ^@ NM_003276.2(TMPO):c.24C>T (p.Pro8=) http://identifiers.org/clinvar/264622 ^@ NM_002471.3(MYH6):c.5767C>T (p.Arg1923Ter) http://identifiers.org/clinvar/263719 ^@ NM_002471.3(MYH6):c.5692T>G (p.Phe1898Val) http://identifiers.org/clinvar/264477 ^@ NM_003276.2(TMPO):c.1892C>T (p.Ala631Val) http://identifiers.org/clinvar/264214 ^@ NM_002471.3(MYH6):c.5519A>G (p.Lys1840Arg) http://identifiers.org/clinvar/264189 ^@ NM_002471.3(MYH6):c.5540G>A (p.Arg1847Gln) http://identifiers.org/clinvar/263508 ^@ NM_002471.3(MYH6):c.5348G>A (p.Arg1783His) http://identifiers.org/clinvar/264391 ^@ NM_003276.2(TMPO):c.1074A>G (p.Lys358=) http://identifiers.org/clinvar/263989 ^@ NM_002471.3(MYH6):c.5601G>A (p.Gln1867=) http://identifiers.org/clinvar/263944 ^@ NM_002471.3(MYH6):c.4685G>A (p.Arg1562Gln) http://identifiers.org/clinvar/263746 ^@ NM_002471.3(MYH6):c.4907G>A (p.Arg1636His) http://identifiers.org/clinvar/263451 ^@ NM_002471.3(MYH6):c.5137G>A (p.Glu1713Lys) http://identifiers.org/clinvar/264332 ^@ NM_002471.3(MYH6):c.4365G>T (p.Leu1455=) http://identifiers.org/clinvar/264374 ^@ NM_002471.3(MYH6):c.3612G>C (p.Glu1204Asp) http://identifiers.org/clinvar/264064 ^@ NM_002471.3(MYH6):c.4047C>T (p.Tyr1349=) http://identifiers.org/clinvar/263646 ^@ NM_002471.3(MYH6):c.3591G>A (p.Lys1197=) http://identifiers.org/clinvar/264294 ^@ NM_002471.3(MYH6):c.5192_5194delAGA (p.Lys1731del) http://identifiers.org/clinvar/263983 ^@ NM_002471.3(MYH6):c.4604T>G (p.Leu1535Arg) http://identifiers.org/clinvar/263704 ^@ NM_002471.3(MYH6):c.4651-4C>A http://identifiers.org/clinvar/263527 ^@ NM_002471.3(MYH6):c.4026C>T (p.Cys1342=) http://identifiers.org/clinvar/264465 ^@ NM_002471.3(MYH6):c.3980C>T (p.Ala1327Val) http://identifiers.org/clinvar/264390 ^@ NM_002471.3(MYH6):c.3140G>A (p.Arg1047His) http://identifiers.org/clinvar/264562 ^@ NM_002471.3(MYH6):c.2928G>A (p.Lys976=) http://identifiers.org/clinvar/264432 ^@ NM_002471.3(MYH6):c.2574C>T (p.Phe858=) http://identifiers.org/clinvar/264515 ^@ NM_002471.3(MYH6):c.3532C>T (p.Arg1178Trp) http://identifiers.org/clinvar/263991 ^@ NM_002471.3(MYH6):c.2554G>A (p.Ala852Thr) http://identifiers.org/clinvar/263779 ^@ NM_002471.3(MYH6):c.3177C>T (p.Gly1059=) http://identifiers.org/clinvar/264480 ^@ NM_002471.3(MYH6):c.2597A>G (p.Glu866Gly) http://identifiers.org/clinvar/263550 ^@ NM_002471.3(MYH6):c.2771T>A (p.Met924Lys) http://identifiers.org/clinvar/264253 ^@ NM_002471.3(MYH6):c.1520T>C (p.Ile507Thr) http://identifiers.org/clinvar/263988 ^@ NM_002471.3(MYH6):c.2430-4C>A http://identifiers.org/clinvar/263566 ^@ NM_002471.3(MYH6):c.1408G>A (p.Asp470Asn) http://identifiers.org/clinvar/264481 ^@ NM_002471.3(MYH6):c.2273A>G (p.Tyr758Cys) http://identifiers.org/clinvar/263705 ^@ NM_000257.3(MYH7):c.5727G>A (p.Arg1909=) http://identifiers.org/clinvar/264090 ^@ NM_002471.3(MYH6):c.633T>A (p.Asn211Lys) http://identifiers.org/clinvar/263945 ^@ NM_002471.3(MYH6):c.1185C>T (p.Asp395=) http://identifiers.org/clinvar/263507 ^@ NM_000257.3(MYH7):c.5624T>C (p.Val1875Ala) http://identifiers.org/clinvar/264017 ^@ NM_000257.3(MYH7):c.4965T>C (p.Ile1655=) http://identifiers.org/clinvar/263349 ^@ NM_000257.3(MYH7):c.4341G>A (p.Arg1447=) http://identifiers.org/clinvar/263348 ^@ NM_000257.3(MYH7):c.4347C>T (p.Phe1449=) http://identifiers.org/clinvar/264560 ^@ NM_002471.3(MYH6):c.643-3T>C http://identifiers.org/clinvar/264233 ^@ NM_000257.3(MYH7):c.3577C>A (p.Arg1193Ser) http://identifiers.org/clinvar/264365 ^@ NM_000257.3(MYH7):c.3373G>A (p.Glu1125Lys) http://identifiers.org/clinvar/263706 ^@ NM_000257.3(MYH7):c.2886delC (p.Val964Trpfs) http://identifiers.org/clinvar/264501 ^@ NM_000257.3(MYH7):c.2882T>G (p.Leu961Arg) http://identifiers.org/clinvar/263629 ^@ NM_000257.3(MYH7):c.3961_3963delGAGinsAAA (p.Glu1321Lys) http://identifiers.org/clinvar/264079 ^@ NM_000257.3(MYH7):c.5245A>C (p.Arg1749=) http://identifiers.org/clinvar/264011 ^@ NM_000257.3(MYH7):c.3261G>A (p.Leu1087=) http://identifiers.org/clinvar/264306 ^@ NM_000257.3(MYH7):c.4134C>T (p.Asp1378=) http://identifiers.org/clinvar/263955 ^@ NM_000257.3(MYH7):c.3320A>C (p.Lys1107Thr) http://identifiers.org/clinvar/264448 ^@ NM_000257.3(MYH7):c.2877G>A (p.Leu959=) http://identifiers.org/clinvar/264608 ^@ NM_000257.3(MYH7):c.2863G>A (p.Asp955Asn) http://identifiers.org/clinvar/263460 ^@ NM_000257.3(MYH7):c.2666T>A (p.Leu889His) http://identifiers.org/clinvar/264068 ^@ NM_000257.3(MYH7):c.2081G>A (p.Arg694His) http://identifiers.org/clinvar/263549 ^@ NM_000257.3(MYH7):c.1753A>T (p.Ile585Phe) http://identifiers.org/clinvar/264593 ^@ NM_000257.3(MYH7):c.1334C>T (p.Ala445Val) http://identifiers.org/clinvar/263543 ^@ NM_000257.3(MYH7):c.689T>C (p.Phe230Ser) http://identifiers.org/clinvar/264607 ^@ NM_000257.3(MYH7):c.1633G>A (p.Asp545Asn) http://identifiers.org/clinvar/264539 ^@ NM_000257.3(MYH7):c.2345G>A (p.Ser782Asn) http://identifiers.org/clinvar/263668 ^@ NM_005159.4(ACTC1):c.970C>T (p.Pro324Ser) http://identifiers.org/clinvar/264231 ^@ NM_000257.3(MYH7):c.1395C>G (p.Phe465Leu) http://identifiers.org/clinvar/264401 ^@ NM_005159.4(ACTC1):c.477T>G (p.Asp159Glu) http://identifiers.org/clinvar/263414 ^@ NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) http://identifiers.org/clinvar/263832 ^@ NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) http://identifiers.org/clinvar/263390 ^@ NM_000138.4(FBN1):c.8099C>T (p.Pro2700Leu) http://identifiers.org/clinvar/263910 ^@ NM_000138.4(FBN1):c.8433G>A (p.Gly2811=) http://identifiers.org/clinvar/263433 ^@ NM_000138.4(FBN1):c.8149G>T (p.Glu2717Ter) http://identifiers.org/clinvar/263644 ^@ NM_000138.4(FBN1):c.7939C>T (p.Gln2647Ter) http://identifiers.org/clinvar/263642 ^@ NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) http://identifiers.org/clinvar/263920 ^@ NM_000138.4(FBN1):c.7792C>T (p.Gln2598Ter) http://identifiers.org/clinvar/264272 ^@ NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) http://identifiers.org/clinvar/264444 ^@ NM_000138.4(FBN1):c.8130C>T (p.Leu2710=) http://identifiers.org/clinvar/263693 ^@ NM_000138.4(FBN1):c.7949A>G (p.Asn2650Ser) http://identifiers.org/clinvar/263432 ^@ NM_000138.4(FBN1):c.7820-3C>A http://identifiers.org/clinvar/264033 ^@ NM_000138.4(FBN1):c.8189G>A (p.Arg2730Gln) http://identifiers.org/clinvar/263562 ^@ NM_000138.4(FBN1):c.8080C>G (p.Arg2694Gly) http://identifiers.org/clinvar/263699 ^@ NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) http://identifiers.org/clinvar/263398 ^@ NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) http://identifiers.org/clinvar/263330 ^@ NM_000138.4(FBN1):c.7530A>G (p.Lys2510=) http://identifiers.org/clinvar/263859 ^@ NM_000138.4(FBN1):c.7092_7093delCT (p.Cys2364Trpfs) http://identifiers.org/clinvar/263901 ^@ NM_000138.4(FBN1):c.7067A>G (p.Asn2356Ser) http://identifiers.org/clinvar/263805 ^@ NM_000138.4(FBN1):c.7363T>C (p.Cys2455Arg) http://identifiers.org/clinvar/264152 ^@ NM_000138.4(FBN1):c.7113G>T (p.Trp2371Cys) http://identifiers.org/clinvar/263431 ^@ NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) http://identifiers.org/clinvar/263695 ^@ NM_000138.4(FBN1):c.6942C>T (p.Tyr2314=) http://identifiers.org/clinvar/264354 ^@ NM_000138.4(FBN1):c.6707A>G (p.Tyr2236Cys) http://identifiers.org/clinvar/264235 ^@ NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) http://identifiers.org/clinvar/264438 ^@ NM_000138.4(FBN1):c.6611G>A (p.Cys2204Tyr) http://identifiers.org/clinvar/263688 ^@ NM_000138.4(FBN1):c.6991T>A (p.Cys2331Ser) http://identifiers.org/clinvar/264000 ^@ NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) http://identifiers.org/clinvar/263837 ^@ NM_000138.4(FBN1):c.6430A>C (p.Asn2144His) http://identifiers.org/clinvar/263823 ^@ NM_000138.4(FBN1):c.6068T>C (p.Ile2023Thr) http://identifiers.org/clinvar/263849 ^@ NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) http://identifiers.org/clinvar/263898 ^@ NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) http://identifiers.org/clinvar/263922 ^@ NM_000138.4(FBN1):c.6583G>A (p.Gly2195Arg) http://identifiers.org/clinvar/264106 ^@ NM_000138.4(FBN1):c.6773G>A (p.Cys2258Tyr) http://identifiers.org/clinvar/263463 ^@ NM_000138.4(FBN1):c.6129G>C (p.Gly2043=) http://identifiers.org/clinvar/263864 ^@ NM_000138.4(FBN1):c.6492T>A (p.Cys2164Ter) http://identifiers.org/clinvar/264487 ^@ NM_000138.4(FBN1):c.5921T>C (p.Ile1974Thr) http://identifiers.org/clinvar/263865 ^@ NM_000138.4(FBN1):c.6080G>T (p.Gly2027Val) http://identifiers.org/clinvar/263804 ^@ NM_000138.4(FBN1):c.5825G>C (p.Cys1942Ser) http://identifiers.org/clinvar/263866 ^@ NM_000138.4(FBN1):c.5720delA (p.Asn1907Thrfs) http://identifiers.org/clinvar/263396 ^@ NM_000138.4(FBN1):c.5725A>C (p.Ile1909Leu) http://identifiers.org/clinvar/263415 ^@ NM_000138.4(FBN1):c.5301T>C (p.Ile1767=) http://identifiers.org/clinvar/263883 ^@ NM_000138.4(FBN1):c.5776_5778delAAT (p.Asn1926del) http://identifiers.org/clinvar/263403 ^@ NM_000138.4(FBN1):c.5789-2A>G http://identifiers.org/clinvar/263568 ^@ NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) http://identifiers.org/clinvar/263340 ^@ NM_000138.4(FBN1):c.5619T>G (p.Tyr1873Ter) http://identifiers.org/clinvar/264473 ^@ NM_000138.4(FBN1):c.5536delC (p.Gln1846Serfs) http://identifiers.org/clinvar/263524 ^@ NM_000138.4(FBN1):c.5155T>C (p.Cys1719Arg) http://identifiers.org/clinvar/263488 ^@ NM_000138.4(FBN1):c.5067_5073delTATGAGA (p.Asp1689Glufs) http://identifiers.org/clinvar/263927 ^@ NM_000138.4(FBN1):c.4956delT (p.Cys1652Trpfs) http://identifiers.org/clinvar/263692 ^@ NM_000138.4(FBN1):c.4935G>A (p.Val1645=) http://identifiers.org/clinvar/263556 ^@ NM_000138.4(FBN1):c.4412_4415delAGTG (p.Glu1471Valfs) http://identifiers.org/clinvar/263788 ^@ NM_000138.4(FBN1):c.4985C>A (p.Thr1662Lys) http://identifiers.org/clinvar/263806 ^@ NM_000138.4(FBN1):c.4209A>G (p.Thr1403=) http://identifiers.org/clinvar/263869 ^@ NM_000138.4(FBN1):c.4905C>T (p.Thr1635=) http://identifiers.org/clinvar/264314 ^@ NM_000138.4(FBN1):c.4577G>A (p.Cys1526Tyr) http://identifiers.org/clinvar/263868 ^@ NM_000138.4(FBN1):c.4337-3A>C http://identifiers.org/clinvar/263907 ^@ NM_000138.4(FBN1):c.4135_4141delGACTGCA (p.Asp1379Argfs) http://identifiers.org/clinvar/263831 ^@ NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) http://identifiers.org/clinvar/264424 ^@ NM_000138.4(FBN1):c.4951G>A (p.Glu1651Lys) http://identifiers.org/clinvar/263872 ^@ NM_000138.4(FBN1):c.4096G>C (p.Glu1366Gln) http://identifiers.org/clinvar/264077 ^@ NM_000138.4(FBN1):c.4562delC (p.Pro1521Glnfs) http://identifiers.org/clinvar/264533 ^@ NM_000138.4(FBN1):c.4316C>T (p.Ala1439Val) http://identifiers.org/clinvar/263875 ^@ NM_000138.4(FBN1):c.3962C>T (p.Thr1321Ile) http://identifiers.org/clinvar/264549 ^@ NM_000138.4(FBN1):c.3765_3767delAAAinsCTGTAC (p.Asn1256delinsCysThr) http://identifiers.org/clinvar/263388 ^@ NM_000138.4(FBN1):c.4007A>G (p.His1336Arg) http://identifiers.org/clinvar/264578 ^@ NM_000138.4(FBN1):c.3669T>A (p.Cys1223Ter) http://identifiers.org/clinvar/263427 ^@ NM_000138.4(FBN1):c.3584G>A (p.Cys1195Tyr) http://identifiers.org/clinvar/263998 ^@ NM_000138.4(FBN1):c.3503A>G (p.Asn1168Ser) http://identifiers.org/clinvar/263860 ^@ NM_000138.4(FBN1):c.3209-1G>C http://identifiers.org/clinvar/263470 ^@ NM_000138.4(FBN1):c.3197G>C (p.Arg1066Thr) http://identifiers.org/clinvar/264619 ^@ NM_000138.4(FBN1):c.3172G>A (p.Gly1058Ser) http://identifiers.org/clinvar/263632 ^@ NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) http://identifiers.org/clinvar/264289 ^@ NM_000138.4(FBN1):c.3123C>G (p.His1041Gln) http://identifiers.org/clinvar/263975 ^@ NM_000138.4(FBN1):c.3082+1G>C http://identifiers.org/clinvar/263789 ^@ NM_000138.4(FBN1):c.3689T>C (p.Met1230Thr) http://identifiers.org/clinvar/263660 ^@ NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) http://identifiers.org/clinvar/264131 ^@ NM_000138.4(FBN1):c.3159C>A (p.Cys1053Ter) http://identifiers.org/clinvar/264427 ^@ NM_000138.4(FBN1):c.2906delT (p.Leu969Argfs) http://identifiers.org/clinvar/264117 ^@ NM_000138.4(FBN1):c.2883G>A (p.Arg961=) http://identifiers.org/clinvar/264248 ^@ NM_000138.4(FBN1):c.2882G>A (p.Arg961Lys) http://identifiers.org/clinvar/263694 ^@ NM_000138.4(FBN1):c.2728+2T>C http://identifiers.org/clinvar/263434 ^@ NM_000138.4(FBN1):c.2725delG (p.Glu909Lysfs) http://identifiers.org/clinvar/263855 ^@ NM_000138.4(FBN1):c.2639G>A (p.Gly880Asp) http://identifiers.org/clinvar/264089 ^@ NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) http://identifiers.org/clinvar/263834 ^@ NM_000138.4(FBN1):c.2524A>T (p.Lys842Ter) http://identifiers.org/clinvar/263937 ^@ NM_000138.4(FBN1):c.2375G>T (p.Cys792Phe) http://identifiers.org/clinvar/263418 ^@ NM_000138.4(FBN1):c.2343T>C (p.Cys781=) http://identifiers.org/clinvar/263335 ^@ NM_000138.4(FBN1):c.2227delC (p.Arg743Valfs) http://identifiers.org/clinvar/264139 ^@ NM_000138.4(FBN1):c.2339A>T (p.Gln780Leu) http://identifiers.org/clinvar/263959 ^@ NM_000138.4(FBN1):c.2127A>C (p.Ala709=) http://identifiers.org/clinvar/263790 ^@ NM_000138.4(FBN1):c.2201G>A (p.Cys734Tyr) http://identifiers.org/clinvar/264197 ^@ NM_000138.4(FBN1):c.2093C>T (p.Pro698Leu) http://identifiers.org/clinvar/263918 ^@ NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?) http://identifiers.org/clinvar/264529 ^@ NM_000138.4(FBN1):c.2094G>T (p.Pro698=) http://identifiers.org/clinvar/264230 ^@ NM_000138.4(FBN1):c.1908A>G (p.Arg636=) http://identifiers.org/clinvar/263696 ^@ NM_000138.4(FBN1):c.1530G>T (p.Ser510=) http://identifiers.org/clinvar/263953 ^@ NM_000138.4(FBN1):c.1876G>A (p.Gly626Arg) http://identifiers.org/clinvar/263585 ^@ NM_000138.4(FBN1):c.1211dupC (p.Pro405Thrfs) http://identifiers.org/clinvar/263469 ^@ NM_000138.4(FBN1):c.1571delC (p.Thr524Serfs) http://identifiers.org/clinvar/264430 ^@ NM_000138.4(FBN1):c.1167C>T (p.Cys389=) http://identifiers.org/clinvar/263912 ^@ NM_000138.4(FBN1):c.1191dupG (p.Arg398Glufs) http://identifiers.org/clinvar/388452 ^@ NM_002693.2(POLG):c.1024-15G>A http://identifiers.org/clinvar/392200 ^@ NM_000834.3(GRIN2B):c.1372A>T (p.Lys458Ter) http://identifiers.org/clinvar/381479 ^@ NM_001009944.2(PKD1):c.4055G>A (p.Ser1352Asn) http://identifiers.org/clinvar/385674 ^@ NM_003366.3(UQCRC2):c.-32G>T http://identifiers.org/clinvar/381064 ^@ NM_002693.2(POLG):c.1002G>A (p.Arg334=) http://identifiers.org/clinvar/387877 ^@ NM_000834.3(GRIN2B):c.1099C>T (p.Leu367=) http://identifiers.org/clinvar/377943 ^@ NM_000834.3(GRIN2B):c.812C>T (p.Ala271Val) http://identifiers.org/clinvar/385447 ^@ NM_003366.3(UQCRC2):c.315A>T (p.Ala105=) http://identifiers.org/clinvar/385278 ^@ NM_000834.3(GRIN2B):c.630C>T (p.Asp210=) http://identifiers.org/clinvar/386435 ^@ NM_000834.3(GRIN2B):c.444A>G (p.Pro148=) http://identifiers.org/clinvar/386005 ^@ NM_000834.3(GRIN2B):c.153G>A (p.Lys51=) http://identifiers.org/clinvar/382034 ^@ NM_003366.3(UQCRC2):c.442C>A (p.Arg148Ser) http://identifiers.org/clinvar/389501 ^@ NM_016239.3(MYO15A):c.8088+6G>A http://identifiers.org/clinvar/390465 ^@ NM_000382.2(ALDH3A2):c.1144G>A (p.Gly382Ser) http://identifiers.org/clinvar/381521 ^@ NM_002693.2(POLG):c.926G>A (p.Arg309His) http://identifiers.org/clinvar/379490 ^@ NM_000382.2(ALDH3A2):c.1202G>A (p.Gly401Glu) http://identifiers.org/clinvar/379706 ^@ NM_004963.3(GUCY2C):c.2086G>T (p.Glu696Ter) http://identifiers.org/clinvar/390006 ^@ NM_002693.2(POLG):c.177G>T (p.Pro59=) http://identifiers.org/clinvar/391825 ^@ NM_002693.2(POLG):c.17G>C (p.Trp6Ser) http://identifiers.org/clinvar/380179 ^@ NM_003366.3(UQCRC2):c.1281G>A (p.Ala427=) http://identifiers.org/clinvar/381480 ^@ NM_000719.6(CACNA1C):c.75C>T (p.Pro25=) http://identifiers.org/clinvar/391023 ^@ NM_007202.3(AKAP10):c.1972A>G (p.Lys658Glu) http://identifiers.org/clinvar/382458 ^@ NM_153603.3(COG7):c.*14C>T http://identifiers.org/clinvar/385474 ^@ NM_001271.3(CHD2):c.-47A>G http://identifiers.org/clinvar/379079 ^@ NM_021957.3(GYS2):c.1791T>C (p.Asp597=) http://identifiers.org/clinvar/390552 ^@ NM_021957.3(GYS2):c.1359C>T (p.Thr453=) http://identifiers.org/clinvar/385208 ^@ NM_001271.3(CHD2):c.62+19C>A http://identifiers.org/clinvar/392048 ^@ NM_001271.3(CHD2):c.294+5C>T http://identifiers.org/clinvar/384013 ^@ NM_020297.3(ABCC9):c.4407T>G (p.Ile1469Met) http://identifiers.org/clinvar/386123 ^@ NM_001271.3(CHD2):c.551+5A>C http://identifiers.org/clinvar/382434 ^@ NM_153603.3(COG7):c.1410-17C>A http://identifiers.org/clinvar/392766 ^@ NM_020297.3(ABCC9):c.3831T>A (p.Gly1277=) http://identifiers.org/clinvar/379162 ^@ NM_000430.3(PAFAH1B1):c.1159+1G>A http://identifiers.org/clinvar/390672 ^@ NM_001271.3(CHD2):c.826+14G>A http://identifiers.org/clinvar/379390 ^@ NM_003593.2(FOXN1):c.124-20G>A http://identifiers.org/clinvar/390082 ^@ NM_003593.2(FOXN1):c.1425G>A (p.Pro475=) http://identifiers.org/clinvar/387946 ^@ NM_020297.3(ABCC9):c.3347G>T (p.Arg1116Leu) http://identifiers.org/clinvar/384086 ^@ NM_001271.3(CHD2):c.960A>T (p.Thr320=) http://identifiers.org/clinvar/384730 ^@ NM_001271.3(CHD2):c.1038C>T (p.Asp346=) http://identifiers.org/clinvar/382533 ^@ NM_020297.3(ABCC9):c.3309T>A (p.Ile1103=) http://identifiers.org/clinvar/381605 ^@ NM_000267.3(NF1):c.311T>G (p.Leu104Ter) http://identifiers.org/clinvar/387675 ^@ NM_001271.3(CHD2):c.1764G>A (p.Lys588=) http://identifiers.org/clinvar/388802 ^@ NM_000267.3(NF1):c.1393-20T>C http://identifiers.org/clinvar/379377 ^@ NM_001271.3(CHD2):c.1809+1G>A http://identifiers.org/clinvar/389617 ^@ NM_153603.3(COG7):c.1137+8C>T http://identifiers.org/clinvar/393177 ^@ NM_020297.3(ABCC9):c.2470C>T (p.Arg824Ter) http://identifiers.org/clinvar/384900 ^@ NM_153603.3(COG7):c.319-18C>A http://identifiers.org/clinvar/389265 ^@ NM_024675.3(PALB2):c.3113+12C>A http://identifiers.org/clinvar/382950 ^@ NM_002878.3(RAD51D):c.668-4G>T http://identifiers.org/clinvar/390744 ^@ NM_001271.3(CHD2):c.1998G>A (p.Glu666=) http://identifiers.org/clinvar/392667 ^@ NM_001271.3(CHD2):c.2358C>T (p.Leu786=) http://identifiers.org/clinvar/380537 ^@ NM_002878.3(RAD51D):c.667+20C>T http://identifiers.org/clinvar/388304 ^@ NM_024675.3(PALB2):c.3099C>T (p.Asn1033=) http://identifiers.org/clinvar/391506 ^@ NM_024675.3(PALB2):c.2655A>G (p.Pro885=) http://identifiers.org/clinvar/379333 ^@ NM_002878.3(RAD51D):c.481-11C>T http://identifiers.org/clinvar/385459 ^@ NM_024675.3(PALB2):c.1989C>T (p.Arg663=) http://identifiers.org/clinvar/383474 ^@ NM_020297.3(ABCC9):c.2378A>T (p.Asp793Val) http://identifiers.org/clinvar/386856 ^@ NM_001271.3(CHD2):c.2506-11T>G http://identifiers.org/clinvar/388549 ^@ NM_002878.3(RAD51D):c.480+6G>A http://identifiers.org/clinvar/386536 ^@ NM_020297.3(ABCC9):c.2198+6T>C http://identifiers.org/clinvar/383403 ^@ NM_001271.3(CHD2):c.2728-3C>T http://identifiers.org/clinvar/384322 ^@ NM_002878.3(RAD51D):c.478C>T (p.Gln160Ter) http://identifiers.org/clinvar/385740 ^@ NM_020297.3(ABCC9):c.2093-7T>G http://identifiers.org/clinvar/385497 ^@ NM_024675.3(PALB2):c.1974A>G (p.Glu658=) http://identifiers.org/clinvar/384789 ^@ NM_002878.3(RAD51D):c.145-4G>T http://identifiers.org/clinvar/390673 ^@ NM_001271.3(CHD2):c.2835C>T (p.Thr945=) http://identifiers.org/clinvar/383239 ^@ NM_001271.3(CHD2):c.2876+11G>A http://identifiers.org/clinvar/383194 ^@ NM_002878.3(RAD51D):c.-27C>A http://identifiers.org/clinvar/390312 ^@ NM_020297.3(ABCC9):c.2019+14C>T http://identifiers.org/clinvar/386582 ^@ NM_001271.3(CHD2):c.3315G>A (p.Thr1105=) http://identifiers.org/clinvar/384642 ^@ NM_001271.3(CHD2):c.3321C>T (p.Asp1107=) http://identifiers.org/clinvar/381235 ^@ NM_024675.3(PALB2):c.1746C>T (p.Ser582=) http://identifiers.org/clinvar/389983 ^@ NM_024675.3(PALB2):c.1685-14T>A http://identifiers.org/clinvar/381992 ^@ NM_002878.3(RAD51D):c.-28C>T http://identifiers.org/clinvar/391939 ^@ NM_002878.3(RAD51D):c.-43G>A http://identifiers.org/clinvar/387808 ^@ NM_001271.3(CHD2):c.3591C>T (p.Ser1197=) http://identifiers.org/clinvar/383095 ^@ NM_001271.3(CHD2):c.4138-15T>G http://identifiers.org/clinvar/383247 ^@ NM_001271.3(CHD2):c.4278+5T>C http://identifiers.org/clinvar/391510 ^@ NM_145068.3(TRPV3):c.1718G>T (p.Gly573Val) http://identifiers.org/clinvar/381871 ^@ NM_024675.3(PALB2):c.1684+10G>A http://identifiers.org/clinvar/386502 ^@ NM_024675.3(PALB2):c.1659C>T (p.His553=) http://identifiers.org/clinvar/382041 ^@ NM_020297.3(ABCC9):c.1619-7T>C http://identifiers.org/clinvar/385325 ^@ NM_001004334.3(GPR179):c.3454T>C (p.Ser1152Pro) http://identifiers.org/clinvar/383071 ^@ NM_003673.3(TCAP):c.111-17C>T http://identifiers.org/clinvar/384420 ^@ NM_002230.2(JUP):c.*312G>A http://identifiers.org/clinvar/383853 ^@ NM_020297.3(ABCC9):c.324C>T (p.Ala108=) http://identifiers.org/clinvar/379581 ^@ NM_024675.3(PALB2):c.1438A>T (p.Lys480Ter) http://identifiers.org/clinvar/383674 ^@ NM_001271.3(CHD2):c.4278+15C>T http://identifiers.org/clinvar/381360 ^@ NM_024675.3(PALB2):c.1110G>A (p.Gln370=) http://identifiers.org/clinvar/385336 ^@ NM_024675.3(PALB2):c.462A>G (p.Thr154=) http://identifiers.org/clinvar/384593 ^@ NM_024675.3(PALB2):c.309G>A (p.Gly103=) http://identifiers.org/clinvar/392309 ^@ NM_002230.2(JUP):c.2030C>T (p.Pro677Leu) http://identifiers.org/clinvar/385487 ^@ NM_001271.3(CHD2):c.4907-15T>A http://identifiers.org/clinvar/392152 ^@ NM_001271.3(CHD2):c.4976G>A (p.Ser1659Asn) http://identifiers.org/clinvar/385771 ^@ NM_024675.3(PALB2):c.212-7T>C http://identifiers.org/clinvar/378316 ^@ NM_024675.3(PALB2):c.211+14A>G http://identifiers.org/clinvar/391157 ^@ NM_002230.2(JUP):c.1945C>T (p.Leu649=) http://identifiers.org/clinvar/387388 ^@ NM_020297.3(ABCC9):c.142+19T>A http://identifiers.org/clinvar/379178 ^@ NM_000833.4(GRIN2A):c.172G>A (p.Glu58Lys) http://identifiers.org/clinvar/390340 ^@ NM_002230.2(JUP):c.1932C>T (p.Tyr644=) http://identifiers.org/clinvar/380690 ^@ NM_002230.2(JUP):c.1902G>T (p.Leu634=) http://identifiers.org/clinvar/390614 ^@ NM_024675.3(PALB2):c.109-4C>G http://identifiers.org/clinvar/381230 ^@ NM_024675.3(PALB2):c.66A>G (p.Ala22=) http://identifiers.org/clinvar/381085 ^@ NM_002230.2(JUP):c.1653+18G>A http://identifiers.org/clinvar/379556 ^@ NM_004985.4(KRAS):c.451-18A>G http://identifiers.org/clinvar/386697 ^@ NM_024675.3(PALB2):c.49-4C>T http://identifiers.org/clinvar/391031 ^@ NM_004985.4(KRAS):c.450+13G>A http://identifiers.org/clinvar/392274 ^@ NM_004862.3(LITAF):c.408C>A (p.Phe136Leu) http://identifiers.org/clinvar/383550 ^@ NM_021098.2(CACNA1H):c.908C>T (p.Ser303Leu) http://identifiers.org/clinvar/392982 ^@ NM_024675.3(PALB2):c.48+19G>C http://identifiers.org/clinvar/392350 ^@ NM_000719.6(CACNA1C):c.1555G>A (p.Ala519Thr) http://identifiers.org/clinvar/387044 ^@ NM_000719.6(CACNA1C):c.1620C>T (p.Thr540=) http://identifiers.org/clinvar/385959 ^@ NM_002230.2(JUP):c.1347C>T (p.Asp449=) http://identifiers.org/clinvar/377618 ^@ NM_021098.2(CACNA1H):c.3470G>A (p.Arg1157His) http://identifiers.org/clinvar/386266 ^@ NM_001199107.1(TBC1D24):c.27C>T (p.Phe9=) http://identifiers.org/clinvar/385179 ^@ NM_000719.6(CACNA1C):c.1669+15C>T http://identifiers.org/clinvar/381257 ^@ NM_001199107.1(TBC1D24):c.492C>G (p.Pro164=) http://identifiers.org/clinvar/387613 ^@ NM_021098.2(CACNA1H):c.4586C>T (p.Pro1529Leu) http://identifiers.org/clinvar/377604 ^@ NM_000719.6(CACNA1C):c.1674G>A (p.Thr558=) http://identifiers.org/clinvar/388738 ^@ NM_000719.6(CACNA1C):c.1800C>T (p.Ile600=) http://identifiers.org/clinvar/389513 ^@ NM_021098.2(CACNA1H):c.6159C>T (p.Gly2053=) http://identifiers.org/clinvar/382356 ^@ NM_002230.2(JUP):c.990C>T (p.Thr330=) http://identifiers.org/clinvar/392873 ^@ NM_016111.3(TELO2):c.194G>C (p.Cys65Ser) http://identifiers.org/clinvar/392872 ^@ NM_016111.3(TELO2):c.697G>A (p.Val233Met) http://identifiers.org/clinvar/391926 ^@ NM_001199107.1(TBC1D24):c.648G>C (p.Leu216=) http://identifiers.org/clinvar/378704 ^@ NM_001199107.1(TBC1D24):c.983+7C>T http://identifiers.org/clinvar/380617 ^@ NM_002230.2(JUP):c.708-6C>T http://identifiers.org/clinvar/389685 ^@ NM_002230.2(JUP):c.624C>T (p.Ile208=) http://identifiers.org/clinvar/384316 ^@ NM_002230.2(JUP):c.-9+9T>C http://identifiers.org/clinvar/382222 ^@ NM_001143979.1(NDE1):c.711C>T (p.Asp237=) http://identifiers.org/clinvar/378672 ^@ NM_139276.2(STAT3):c.1414A>G (p.Asn472Asp) http://identifiers.org/clinvar/386171 ^@ NM_001199107.1(TBC1D24):c.984-5C>G http://identifiers.org/clinvar/378706 ^@ NM_001199107.1(TBC1D24):c.1427C>A (p.Ala476Asp) http://identifiers.org/clinvar/386835 ^@ NM_000719.6(CACNA1C):c.1806G>A (p.Glu602=) http://identifiers.org/clinvar/382978 ^@ NM_025233.6(COASY):c.1302+7A>G http://identifiers.org/clinvar/387420 ^@ NM_001143979.1(NDE1):c.831C>T (p.Leu277=) http://identifiers.org/clinvar/381045 ^@ NM_002474.2(MYH11):c.*19G>A http://identifiers.org/clinvar/378436 ^@ NM_016556.3(PSMC3IP):c.136-10C>T http://identifiers.org/clinvar/390998 ^@ NM_001199107.1(TBC1D24):c.1449G>C (p.Leu483=) http://identifiers.org/clinvar/384028 ^@ NM_000719.6(CACNA1C):c.2461-3T>C http://identifiers.org/clinvar/392064 ^@ NM_002474.2(MYH11):c.5157T>C (p.Ser1719=) http://identifiers.org/clinvar/386478 ^@ NM_001199107.1(TBC1D24):c.1453G>A (p.Ala485Thr) http://identifiers.org/clinvar/384501 ^@ NM_001070.4(TUBG1):c.-49C>A http://identifiers.org/clinvar/387421 ^@ NM_001070.4(TUBG1):c.654G>A (p.Leu218=) http://identifiers.org/clinvar/392052 ^@ NM_001070.4(TUBG1):c.821C>T (p.Thr274Ile) http://identifiers.org/clinvar/377605 ^@ NM_000719.6(CACNA1C):c.2530+13C>T http://identifiers.org/clinvar/378208 ^@ NM_002474.2(MYH11):c.4792-6G>C http://identifiers.org/clinvar/379825 ^@ NM_003632.2(CNTNAP1):c.1282C>T (p.Arg428Ter) http://identifiers.org/clinvar/386837 ^@ NM_002474.2(MYH11):c.4659C>T (p.Asp1553=) http://identifiers.org/clinvar/377897 ^@ NM_000151.3(G6PC):c.132C>T (p.Tyr44=) http://identifiers.org/clinvar/392027 ^@ NM_001143979.1(NDE1):c.948-10T>G http://identifiers.org/clinvar/382005 ^@ NM_000719.6(CACNA1C):c.2961-5C>T http://identifiers.org/clinvar/386331 ^@ NM_002474.2(MYH11):c.3684G>A (p.Thr1228=) http://identifiers.org/clinvar/380752 ^@ NM_000719.6(CACNA1C):c.3111C>T (p.Thr1037=) http://identifiers.org/clinvar/385009 ^@ NM_000151.3(G6PC):c.231-18T>C http://identifiers.org/clinvar/378201 ^@ NM_002474.2(MYH11):c.2998-20C>G http://identifiers.org/clinvar/380962 ^@ NM_002474.2(MYH11):c.2742G>A (p.Ala914=) http://identifiers.org/clinvar/378709 ^@ NM_001199107.1(TBC1D24):c.1642G>A (p.Val548Met) http://identifiers.org/clinvar/377606 ^@ NM_000719.6(CACNA1C):c.3723C>T (p.Tyr1241=) http://identifiers.org/clinvar/390692 ^@ NM_000151.3(G6PC):c.954C>T (p.Val318=) http://identifiers.org/clinvar/383143 ^@ NM_000719.6(CACNA1C):c.4232+18T>G http://identifiers.org/clinvar/380253 ^@ NM_001042432.1(CLN3):c.1197+13C>T http://identifiers.org/clinvar/377898 ^@ NM_000151.3(G6PC):c.1002C>T (p.Pro334=) http://identifiers.org/clinvar/386642 ^@ NM_000719.6(CACNA1C):c.4860C>A (p.Ala1620=) http://identifiers.org/clinvar/381060 ^@ NM_007294.3(BRCA1):c.5475G>A (p.Gly1825=) http://identifiers.org/clinvar/385171 ^@ NM_000719.6(CACNA1C):c.5016T>C (p.Asp1672=) http://identifiers.org/clinvar/387506 ^@ NM_001042432.1(CLN3):c.125+3G>A http://identifiers.org/clinvar/382500 ^@ NM_002474.2(MYH11):c.1576-15A>G http://identifiers.org/clinvar/387146 ^@ NM_003321.4(TUFM):c.1242G>A (p.Arg414=) http://identifiers.org/clinvar/377612 ^@ NM_000719.6(CACNA1C):c.5091+17C>T http://identifiers.org/clinvar/379547 ^@ NM_003321.4(TUFM):c.922+16C>T http://identifiers.org/clinvar/381399 ^@ NM_007294.3(BRCA1):c.5467+12G>A http://identifiers.org/clinvar/379527 ^@ NM_003321.4(TUFM):c.558T>C (p.Ala186=) http://identifiers.org/clinvar/385099 ^@ NM_002474.2(MYH11):c.1575+17C>T http://identifiers.org/clinvar/389890 ^@ NM_000719.6(CACNA1C):c.5444+723C>T http://identifiers.org/clinvar/392864 ^@ NM_007294.3(BRCA1):c.5333-11G>A http://identifiers.org/clinvar/379110 ^@ NM_007294.3(BRCA1):c.5278-20C>T http://identifiers.org/clinvar/392193 ^@ NM_139241.3(FGD4):c.-236C>G http://identifiers.org/clinvar/385830 ^@ NM_173201.3(ATP2A1):c.114C>T (p.Leu38=) http://identifiers.org/clinvar/388346 ^@ NM_139241.3(FGD4):c.1191+13C>T http://identifiers.org/clinvar/388796 ^@ NM_002474.2(MYH11):c.1527C>T (p.Ile509=) http://identifiers.org/clinvar/387636 ^@ NM_012062.4(DNM1L):c.740+3T>C http://identifiers.org/clinvar/381193 ^@ NM_002474.2(MYH11):c.1413C>T (p.Phe471=) http://identifiers.org/clinvar/379862 ^@ NM_012062.4(DNM1L):c.1302G>T (p.Leu434=) http://identifiers.org/clinvar/378199 ^@ NM_002474.2(MYH11):c.1326A>G (p.Lys442=) http://identifiers.org/clinvar/378198 ^@ NM_002474.2(MYH11):c.405G>A (p.Ser135=) http://identifiers.org/clinvar/387884 ^@ NM_173201.3(ATP2A1):c.272C>T (p.Pro91Leu) http://identifiers.org/clinvar/392362 ^@ NM_007294.3(BRCA1):c.5194-4T>C http://identifiers.org/clinvar/393090 ^@ NM_173201.3(ATP2A1):c.640A>G (p.Ile214Val) http://identifiers.org/clinvar/380443 ^@ NM_012062.4(DNM1L):c.2082C>T (p.Ser694=) http://identifiers.org/clinvar/393278 ^@ NM_001040436.2(YARS2):c.280G>A (p.Ala94Thr) http://identifiers.org/clinvar/383546 ^@ NM_002474.2(MYH11):c.346-16G>C http://identifiers.org/clinvar/385942 ^@ NM_007294.3(BRCA1):c.5152+19C>T http://identifiers.org/clinvar/389436 ^@ NM_173201.3(ATP2A1):c.658T>C (p.Leu220=) http://identifiers.org/clinvar/392840 ^@ NM_004572.3(PKP2):c.2490-18A>G http://identifiers.org/clinvar/390036 ^@ NM_173201.3(ATP2A1):c.2458C>A (p.Pro820Thr) http://identifiers.org/clinvar/379464 ^@ NM_007294.3(BRCA1):c.4986+15A>G http://identifiers.org/clinvar/390035 ^@ NM_173201.3(ATP2A1):c.2862+20G>C http://identifiers.org/clinvar/381152 ^@ NM_001171.5(ABCC6):c.4042-29G>A http://identifiers.org/clinvar/388917 ^@ NM_145239.2(PRRT2):c.-25G>C http://identifiers.org/clinvar/378963 ^@ NM_007294.3(BRCA1):c.4719T>C (p.Asp1573=) http://identifiers.org/clinvar/384529 ^@ NM_007294.3(BRCA1):c.4242A>G (p.Leu1414=) http://identifiers.org/clinvar/377571 ^@ NM_007294.3(BRCA1):c.4155A>G (p.Leu1385=) http://identifiers.org/clinvar/381356 ^@ NM_145239.2(PRRT2):c.87A>G (p.Glu29=) http://identifiers.org/clinvar/389892 ^@ NM_004572.3(PKP2):c.963C>T (p.Val321=) http://identifiers.org/clinvar/379215 ^@ NM_001171.5(ABCC6):c.3871G>A (p.Ala1291Thr) http://identifiers.org/clinvar/379492 ^@ NM_004572.3(PKP2):c.927C>T (p.Ala309=) http://identifiers.org/clinvar/382814 ^@ NM_004572.3(PKP2):c.720G>A (p.Leu240=) http://identifiers.org/clinvar/390878 ^@ NM_001171.5(ABCC6):c.3735+18G>A http://identifiers.org/clinvar/385291 ^@ NM_007294.3(BRCA1):c.3885G>A (p.Leu1295=) http://identifiers.org/clinvar/388418 ^@ NM_007294.3(BRCA1):c.3714T>C (p.Pro1238=) http://identifiers.org/clinvar/381400 ^@ NM_007294.3(BRCA1):c.3540C>T (p.Ser1180=) http://identifiers.org/clinvar/381637 ^@ NM_001171.5(ABCC6):c.2848G>A (p.Ala950Thr) http://identifiers.org/clinvar/380237 ^@ NM_004572.3(PKP2):c.406G>A (p.Val136Met) http://identifiers.org/clinvar/386154 ^@ NM_145239.2(PRRT2):c.171C>T (p.Ala57=) http://identifiers.org/clinvar/388991 ^@ NM_001171.5(ABCC6):c.855C>T (p.Thr285=) http://identifiers.org/clinvar/380374 ^@ NM_001171.5(ABCC6):c.396A>G (p.Ser132=) http://identifiers.org/clinvar/388781 ^@ NM_145239.2(PRRT2):c.357T>G (p.Thr119=) http://identifiers.org/clinvar/382315 ^@ NM_007294.3(BRCA1):c.3378A>G (p.Pro1126=) http://identifiers.org/clinvar/384591 ^@ NM_003361.3(UMOD):c.254A>G (p.Asn85Ser) http://identifiers.org/clinvar/381500 ^@ NM_007294.3(BRCA1):c.3153T>C (p.Thr1051=) http://identifiers.org/clinvar/383160 ^@ NM_007294.3(BRCA1):c.2667T>C (p.Ser889=) http://identifiers.org/clinvar/380680 ^@ NM_004572.3(PKP2):c.-49C>G http://identifiers.org/clinvar/387561 ^@ NM_001843.3(CNTN1):c.1507+19G>T http://identifiers.org/clinvar/378432 ^@ NM_145239.2(PRRT2):c.645C>T (p.Pro215=) http://identifiers.org/clinvar/388444 ^@ NM_153026.2(PRICKLE1):c.2205C>T (p.Ala735=) http://identifiers.org/clinvar/387280 ^@ NM_000548.4(TSC2):c.450G>A (p.Gly150=) http://identifiers.org/clinvar/378434 ^@ NM_145239.2(PRRT2):c.*11C>T http://identifiers.org/clinvar/389240 ^@ NM_007294.3(BRCA1):c.1803C>T (p.His601=) http://identifiers.org/clinvar/380078 ^@ NM_000034.3(ALDOA):c.-959-19C>T http://identifiers.org/clinvar/383812 ^@ NM_000548.4(TSC2):c.482-17C>T http://identifiers.org/clinvar/389286 ^@ NM_007294.3(BRCA1):c.1761A>C (p.Ile587=) http://identifiers.org/clinvar/377570 ^@ NM_007294.3(BRCA1):c.1740C>T (p.Phe580=) http://identifiers.org/clinvar/385932 ^@ NM_007294.3(BRCA1):c.1248A>G (p.Leu416=) http://identifiers.org/clinvar/388112 ^@ NM_000548.4(TSC2):c.599+10G>C http://identifiers.org/clinvar/386986 ^@ NM_000548.4(TSC2):c.627C>T (p.Thr209=) http://identifiers.org/clinvar/381661 ^@ NM_007294.3(BRCA1):c.259T>C (p.Leu87=) http://identifiers.org/clinvar/384783 ^@ NM_007294.3(BRCA1):c.212+16A>G http://identifiers.org/clinvar/387989 ^@ NM_000034.3(ALDOA):c.-103-5C>T http://identifiers.org/clinvar/383265 ^@ NM_153026.2(PRICKLE1):c.2193C>T (p.Tyr731=) http://identifiers.org/clinvar/383372 ^@ NM_153026.2(PRICKLE1):c.1640-11C>T http://identifiers.org/clinvar/388609 ^@ NM_000548.4(TSC2):c.648+14C>T http://identifiers.org/clinvar/381467 ^@ NM_007294.3(BRCA1):c.69G>A (p.Glu23=) http://identifiers.org/clinvar/381705 ^@ NM_153026.2(PRICKLE1):c.1023G>C (p.Arg341=) http://identifiers.org/clinvar/386553 ^@ NM_153026.2(PRICKLE1):c.819C>T (p.His273=) http://identifiers.org/clinvar/389984 ^@ NM_000548.4(TSC2):c.721G>A (p.Val241Ile) http://identifiers.org/clinvar/385281 ^@ NM_000548.4(TSC2):c.861G>A (p.Glu287=) http://identifiers.org/clinvar/386055 ^@ NM_000034.3(ALDOA):c.30G>A (p.Pro10=) http://identifiers.org/clinvar/382616 ^@ NM_000034.3(ALDOA):c.63C>T (p.His21=) http://identifiers.org/clinvar/385620 ^@ NM_153026.2(PRICKLE1):c.588+17C>A http://identifiers.org/clinvar/389736 ^@ NM_000034.3(ALDOA):c.486C>G (p.Leu162=) http://identifiers.org/clinvar/390691 ^@ NM_000034.3(ALDOA):c.799+17T>C http://identifiers.org/clinvar/381254 ^@ NM_000548.4(TSC2):c.975+7C>T http://identifiers.org/clinvar/387249 ^@ NM_000034.3(ALDOA):c.800-20G>A http://identifiers.org/clinvar/387278 ^@ NM_007294.3(BRCA1):c.-26G>T http://identifiers.org/clinvar/390408 ^@ NM_000034.3(ALDOA):c.870C>T (p.Cys290=) http://identifiers.org/clinvar/378421 ^@ NM_153026.2(PRICKLE1):c.60C>A (p.Ser20=) http://identifiers.org/clinvar/380772 ^@ NM_001759.3(CCND2):c.570C>G (p.Thr190=) http://identifiers.org/clinvar/378773 ^@ NM_000548.4(TSC2):c.1029C>A (p.Thr343=) http://identifiers.org/clinvar/389168 ^@ NM_007294.3(BRCA1):c.-29C>G http://identifiers.org/clinvar/379944 ^@ NM_000034.3(ALDOA):c.999+17G>T http://identifiers.org/clinvar/392199 ^@ NM_152641.3(ARID2):c.2872C>T (p.Gln958Ter) http://identifiers.org/clinvar/386855 ^@ NM_000548.4(TSC2):c.1341G>A (p.Ala447=) http://identifiers.org/clinvar/378242 ^@ NM_005002.4(NDUFA9):c.655+17A>G http://identifiers.org/clinvar/393043 ^@ NM_007294.3(BRCA1):c.-37C>T http://identifiers.org/clinvar/381398 ^@ NM_005002.4(NDUFA9):c.795C>T (p.Phe265=) http://identifiers.org/clinvar/379386 ^@ NM_007074.3(CORO1A):c.336A>G (p.Pro112=) http://identifiers.org/clinvar/384121 ^@ NM_007294.3(BRCA1):c.-45G>C http://identifiers.org/clinvar/393179 ^@ NM_001844.4(COL2A1):c.4265G>A (p.Arg1422Gln) http://identifiers.org/clinvar/390559 ^@ NM_001844.4(COL2A1):c.3969C>T (p.Cys1323=) http://identifiers.org/clinvar/388753 ^@ NM_153006.2(NAGS):c.117G>C (p.Ala39=) http://identifiers.org/clinvar/381057 ^@ NM_000548.4(TSC2):c.1440T>C (p.Tyr480=) http://identifiers.org/clinvar/379625 ^@ NM_004247.3(EFTUD2):c.1732C>T (p.Arg578Ter) http://identifiers.org/clinvar/378777 ^@ NM_000548.4(TSC2):c.1443+14C>T http://identifiers.org/clinvar/392600 ^@ NM_005910.5(MAPT):c.412G>A (p.Asp138Asn) http://identifiers.org/clinvar/387239 ^@ NM_001193466.1(KANSL1):c.3260C>T (p.Pro1087Leu) http://identifiers.org/clinvar/391857 ^@ NM_001844.4(COL2A1):c.3490-18G>A http://identifiers.org/clinvar/379614 ^@ NM_001193466.1(KANSL1):c.3185G>A (p.Arg1062His) http://identifiers.org/clinvar/385342 ^@ NM_001844.4(COL2A1):c.2355+15G>A http://identifiers.org/clinvar/389794 ^@ NM_000294.2(PHKG2):c.802-17C>T http://identifiers.org/clinvar/384091 ^@ NM_001844.4(COL2A1):c.1734+3A>C http://identifiers.org/clinvar/392437 ^@ NM_001193466.1(KANSL1):c.3094G>T (p.Val1032Phe) http://identifiers.org/clinvar/387227 ^@ NM_001193466.1(KANSL1):c.3035A>G (p.His1012Arg) http://identifiers.org/clinvar/387002 ^@ NM_001193466.1(KANSL1):c.3019C>T (p.Arg1007Trp) http://identifiers.org/clinvar/391808 ^@ NM_052874.4(STX1B):c.755A>T (p.Lys252Ile) http://identifiers.org/clinvar/379373 ^@ NM_004380.2(CREBBP):c.2659C>T (p.Gln887Ter) http://identifiers.org/clinvar/380648 ^@ NM_001193466.1(KANSL1):c.2755G>A (p.Ala919Thr) http://identifiers.org/clinvar/380615 ^@ NM_004380.2(CREBBP):c.2616G>A (p.Thr872=) http://identifiers.org/clinvar/392976 ^@ NM_000548.4(TSC2):c.1473G>A (p.Ser491=) http://identifiers.org/clinvar/379852 ^@ NM_001193466.1(KANSL1):c.2077C>G (p.Pro693Ala) http://identifiers.org/clinvar/387908 ^@ NM_000548.4(TSC2):c.1800C>T (p.His600=) http://identifiers.org/clinvar/391706 ^@ NM_005430.3(WNT1):c.1051T>G (p.Trp351Gly) http://identifiers.org/clinvar/379327 ^@ NM_003482.3(KMT2D):c.1259-2A>G http://identifiers.org/clinvar/378781 ^@ NM_000548.4(TSC2):c.1932C>T (p.Cys644=) http://identifiers.org/clinvar/382751 ^@ NM_004380.2(CREBBP):c.458C>T (p.Pro153Leu) http://identifiers.org/clinvar/377992 ^@ NM_001193466.1(KANSL1):c.1738G>A (p.Val580Ile) http://identifiers.org/clinvar/378782 ^@ NM_000548.4(TSC2):c.1946+14C>T http://identifiers.org/clinvar/384472 ^@ NM_006009.3(TUBA1A):c.1257A>G (p.Ser419=) http://identifiers.org/clinvar/384782 ^@ NM_000293.2(PHKB):c.-45A>G http://identifiers.org/clinvar/384982 ^@ NM_000293.2(PHKB):c.870+17T>C http://identifiers.org/clinvar/391152 ^@ NM_001193466.1(KANSL1):c.1650C>T (p.Asn550=) http://identifiers.org/clinvar/386605 ^@ NM_000293.2(PHKB):c.1458+16A>G http://identifiers.org/clinvar/384225 ^@ NM_000293.2(PHKB):c.1609-20T>C http://identifiers.org/clinvar/392360 ^@ NM_000548.4(TSC2):c.2220+12G>A http://identifiers.org/clinvar/384198 ^@ NM_019109.4(ALG1):c.-10G>T http://identifiers.org/clinvar/391969 ^@ NM_000548.4(TSC2):c.2545A>G (p.Thr849Ala) http://identifiers.org/clinvar/380567 ^@ NM_001193466.1(KANSL1):c.1483T>C (p.Phe495Leu) http://identifiers.org/clinvar/381704 ^@ NM_001193466.1(KANSL1):c.1459C>G (p.Pro487Ala) http://identifiers.org/clinvar/381967 ^@ NM_001193466.1(KANSL1):c.1364A>G (p.His455Arg) http://identifiers.org/clinvar/380398 ^@ NM_001193466.1(KANSL1):c.1348A>C (p.Asn450His) http://identifiers.org/clinvar/384538 ^@ NM_006009.3(TUBA1A):c.1246G>A (p.Gly416Ser) http://identifiers.org/clinvar/379050 ^@ NM_006009.3(TUBA1A):c.1230G>T (p.Gly410=) http://identifiers.org/clinvar/384425 ^@ NM_000548.4(TSC2):c.2742+6C>G http://identifiers.org/clinvar/385000 ^@ NM_019109.4(ALG1):c.60G>A (p.Leu20=) http://identifiers.org/clinvar/389035 ^@ NM_019109.4(ALG1):c.391-15C>G http://identifiers.org/clinvar/385685 ^@ NM_001193466.1(KANSL1):c.1290-20C>T http://identifiers.org/clinvar/385050 ^@ NM_000548.4(TSC2):c.2998T>C (p.Leu1000=) http://identifiers.org/clinvar/386865 ^@ NM_000548.4(TSC2):c.3088A>G (p.Met1030Val) http://identifiers.org/clinvar/384255 ^@ NM_019109.4(ALG1):c.554T>G (p.Phe185Cys) http://identifiers.org/clinvar/378552 ^@ NM_014191.3(SCN8A):c.120C>T (p.Ala40=) http://identifiers.org/clinvar/387539 ^@ NM_014191.3(SCN8A):c.396-5T>C http://identifiers.org/clinvar/379183 ^@ NM_001193466.1(KANSL1):c.1126A>G (p.Ile376Val) http://identifiers.org/clinvar/381987 ^@ NM_000548.4(TSC2):c.3611-11C>T http://identifiers.org/clinvar/384559 ^@ NM_019109.4(ALG1):c.630-18G>A http://identifiers.org/clinvar/386821 ^@ NM_000548.4(TSC2):c.3611-4G>T http://identifiers.org/clinvar/383681 ^@ NM_014191.3(SCN8A):c.744G>A (p.Val248=) http://identifiers.org/clinvar/385558 ^@ NM_000548.4(TSC2):c.3618C>G (p.Thr1206=) http://identifiers.org/clinvar/383621 ^@ NM_019109.4(ALG1):c.863-15A>G http://identifiers.org/clinvar/379631 ^@ NM_000548.4(TSC2):c.3681C>A (p.Pro1227=) http://identifiers.org/clinvar/378787 ^@ NM_000548.4(TSC2):c.3780G>A (p.Thr1260=) http://identifiers.org/clinvar/386117 ^@ NM_000548.4(TSC2):c.4056G>C (p.Leu1352=) http://identifiers.org/clinvar/382048 ^@ NM_019109.4(ALG1):c.863-14T>C http://identifiers.org/clinvar/380644 ^@ NM_001193466.1(KANSL1):c.1118G>C (p.Ser373Thr) http://identifiers.org/clinvar/381357 ^@ NM_014191.3(SCN8A):c.804C>T (p.Ile268=) http://identifiers.org/clinvar/378792 ^@ NM_000548.4(TSC2):c.4989+15G>A http://identifiers.org/clinvar/379407 ^@ NM_002968.2(SALL1):c.3771C>T (p.Asn1257=) http://identifiers.org/clinvar/388298 ^@ NM_002968.2(SALL1):c.1405C>T (p.Arg469Cys) http://identifiers.org/clinvar/389489 ^@ NM_001193466.1(KANSL1):c.1059C>A (p.Ala353=) http://identifiers.org/clinvar/385488 ^@ NM_000548.4(TSC2):c.4990-5G>T http://identifiers.org/clinvar/390993 ^@ NM_001193466.1(KANSL1):c.862C>T (p.Leu288=) http://identifiers.org/clinvar/393050 ^@ NM_001009944.2(PKD1):c.1075C>G (p.Leu359Val) http://identifiers.org/clinvar/389372 ^@ NM_003366.3(UQCRC2):c.-35C>T http://identifiers.org/clinvar/389310 ^@ NM_015272.4(RPGRIP1L):c.3220+13T>C http://identifiers.org/clinvar/383713 ^@ NM_015272.4(RPGRIP1L):c.240C>G (p.Thr80=) http://identifiers.org/clinvar/383404 ^@ NM_001193466.1(KANSL1):c.845C>A (p.Thr282Lys) http://identifiers.org/clinvar/389207 ^@ NM_003366.3(UQCRC2):c.117+10A>G http://identifiers.org/clinvar/383046 ^@ NM_003366.3(UQCRC2):c.420C>G (p.Val140=) http://identifiers.org/clinvar/381528 ^@ NM_000339.2(SLC12A3):c.1196G>T (p.Arg399Leu) http://identifiers.org/clinvar/382720 ^@ NM_014191.3(SCN8A):c.814C>T (p.Leu272=) http://identifiers.org/clinvar/382280 ^@ NM_020312.3(COQ9):c.-16-2G>A http://identifiers.org/clinvar/382918 ^@ NM_001193466.1(KANSL1):c.682A>T (p.Thr228Ser) http://identifiers.org/clinvar/379666 ^@ NM_001193466.1(KANSL1):c.632C>T (p.Pro211Leu) http://identifiers.org/clinvar/383906 ^@ NM_153603.3(COG7):c.*9C>A http://identifiers.org/clinvar/380495 ^@ NM_153603.3(COG7):c.1888-17G>A http://identifiers.org/clinvar/384470 ^@ NM_005682.6(ADGRG1):c.66T>G (p.Gly22=) http://identifiers.org/clinvar/378557 ^@ NM_014191.3(SCN8A):c.1002A>G (p.Pro334=) http://identifiers.org/clinvar/388352 ^@ NM_153603.3(COG7):c.1887C>T (p.Asn629=) http://identifiers.org/clinvar/381530 ^@ NM_005682.6(ADGRG1):c.367C>T (p.Gln123Ter) http://identifiers.org/clinvar/379269 ^@ NM_001193466.1(KANSL1):c.617C>G (p.Thr206Ser) http://identifiers.org/clinvar/386664 ^@ NM_014191.3(SCN8A):c.1104C>A (p.Thr368=) http://identifiers.org/clinvar/377987 ^@ NM_001193466.1(KANSL1):c.585A>G (p.Gly195=) http://identifiers.org/clinvar/387524 ^@ NM_001082486.1(ACD):c.397C>G (p.His133Asp) http://identifiers.org/clinvar/385884 ^@ NM_004360.4(CDH1):c.-39C>T http://identifiers.org/clinvar/380442 ^@ NM_153603.3(COG7):c.366C>T (p.Ala122=) http://identifiers.org/clinvar/392281 ^@ NM_001193466.1(KANSL1):c.99T>C (p.Ser33=) http://identifiers.org/clinvar/380334 ^@ NM_004360.4(CDH1):c.-37C>A http://identifiers.org/clinvar/384067 ^@ NM_004360.4(CDH1):c.-29C>G http://identifiers.org/clinvar/379857 ^@ NM_004360.4(CDH1):c.-21G>C http://identifiers.org/clinvar/383614 ^@ NM_001193466.1(KANSL1):c.-89-17T>C http://identifiers.org/clinvar/388933 ^@ NM_001193466.1(KANSL1):c.-102G>A http://identifiers.org/clinvar/382862 ^@ NM_014191.3(SCN8A):c.1545G>T (p.Val515=) http://identifiers.org/clinvar/380961 ^@ NM_004360.4(CDH1):c.49-4C>A http://identifiers.org/clinvar/389335 ^@ NM_004287.4(GOSR2):c.-34C>T http://identifiers.org/clinvar/385916 ^@ NM_004287.4(GOSR2):c.95-17T>C http://identifiers.org/clinvar/377930 ^@ NM_004287.4(GOSR2):c.369A>G (p.Ser123=) http://identifiers.org/clinvar/380295 ^@ NM_001083614.1(EARS2):c.402C>T (p.Thr134=) http://identifiers.org/clinvar/378321 ^@ NM_024675.3(PALB2):c.3474T>C (p.His1158=) http://identifiers.org/clinvar/389104 ^@ NM_024675.3(PALB2):c.3220C>T (p.Leu1074=) http://identifiers.org/clinvar/379508 ^@ NM_004287.4(GOSR2):c.546C>T (p.Ile182=) http://identifiers.org/clinvar/383352 ^@ NM_004287.4(GOSR2):c.*1823C>T http://identifiers.org/clinvar/379831 ^@ NM_024675.3(PALB2):c.2992G>A (p.Gly998Arg) http://identifiers.org/clinvar/383343 ^@ NM_004360.4(CDH1):c.147C>T (p.Gly49=) http://identifiers.org/clinvar/388910 ^@ NM_018129.3(PNPO):c.138+13G>A http://identifiers.org/clinvar/387647 ^@ NM_024675.3(PALB2):c.2652G>A (p.Glu884=) http://identifiers.org/clinvar/389595 ^@ NM_024675.3(PALB2):c.2391A>G (p.Gln797=) http://identifiers.org/clinvar/389872 ^@ NM_024675.3(PALB2):c.2220A>G (p.Gln740=) http://identifiers.org/clinvar/378560 ^@ NM_014191.3(SCN8A):c.1998+15G>T http://identifiers.org/clinvar/379591 ^@ NM_004360.4(CDH1):c.163+17G>C http://identifiers.org/clinvar/378403 ^@ NM_018129.3(PNPO):c.147G>A (p.Glu49=) http://identifiers.org/clinvar/379566 ^@ NM_024675.3(PALB2):c.1685-1G>C http://identifiers.org/clinvar/388551 ^@ NM_024675.3(PALB2):c.1684+4A>C http://identifiers.org/clinvar/393169 ^@ NM_014191.3(SCN8A):c.2620G>T (p.Ala874Ser) http://identifiers.org/clinvar/391570 ^@ NM_018129.3(PNPO):c.399G>A (p.Trp133Ter) http://identifiers.org/clinvar/383545 ^@ NM_014191.3(SCN8A):c.2890G>C (p.Gly964Arg) http://identifiers.org/clinvar/388797 ^@ NM_004360.4(CDH1):c.388-16T>A http://identifiers.org/clinvar/384103 ^@ NM_004360.4(CDH1):c.417G>A (p.Leu139=) http://identifiers.org/clinvar/386627 ^@ NM_024675.3(PALB2):c.1123C>T (p.Leu375=) http://identifiers.org/clinvar/378404 ^@ NM_018129.3(PNPO):c.433C>T (p.Pro145Ser) http://identifiers.org/clinvar/389716 ^@ NM_024675.3(PALB2):c.297A>G (p.Thr99=) http://identifiers.org/clinvar/388842 ^@ NM_014191.3(SCN8A):c.3090G>A (p.Glu1030=) http://identifiers.org/clinvar/390128 ^@ NM_018129.3(PNPO):c.547-17C>G http://identifiers.org/clinvar/378315 ^@ NM_024675.3(PALB2):c.201A>G (p.Leu67=) http://identifiers.org/clinvar/392952 ^@ NM_000080.3(CHRNE):c.914G>A (p.Gly305Asp) http://identifiers.org/clinvar/390563 ^@ NM_053013.3(ENO3):c.-2-9G>C http://identifiers.org/clinvar/379621 ^@ NM_024675.3(PALB2):c.78G>A (p.Arg26=) http://identifiers.org/clinvar/384380 ^@ NM_053013.3(ENO3):c.86-10C>T http://identifiers.org/clinvar/381355 ^@ NM_001199107.1(TBC1D24):c.702G>C (p.Val234=) http://identifiers.org/clinvar/382778 ^@ NM_004360.4(CDH1):c.510A>C (p.Pro170=) http://identifiers.org/clinvar/382881 ^@ NM_001199107.1(TBC1D24):c.1305G>C (p.Leu435=) http://identifiers.org/clinvar/382198 ^@ NM_004360.4(CDH1):c.618T>C (p.Ile206=) http://identifiers.org/clinvar/378707 ^@ NM_001199107.1(TBC1D24):c.1526-13G>A http://identifiers.org/clinvar/378708 ^@ NM_001199107.1(TBC1D24):c.1620C>T (p.Ser540=) http://identifiers.org/clinvar/392542 ^@ NM_001199107.1(TBC1D24):c.1633A>G (p.Ile545Val) http://identifiers.org/clinvar/379484 ^@ NM_001199107.1(TBC1D24):c.1641C>A (p.Ala547=) http://identifiers.org/clinvar/381414 ^@ NM_053013.3(ENO3):c.240+17G>A http://identifiers.org/clinvar/388654 ^@ NM_053013.3(ENO3):c.249C>T (p.Ser83=) http://identifiers.org/clinvar/379539 ^@ NM_004360.4(CDH1):c.688-14C>T http://identifiers.org/clinvar/378561 ^@ NM_014191.3(SCN8A):c.3645+14G>C http://identifiers.org/clinvar/391356 ^@ NM_014191.3(SCN8A):c.3830T>A (p.Val1277Asp) http://identifiers.org/clinvar/387267 ^@ NM_004360.4(CDH1):c.774C>T (p.Asn258=) http://identifiers.org/clinvar/383986 ^@ NM_006612.5(KIF1C):c.-149+13G>C http://identifiers.org/clinvar/383662 ^@ NM_006612.5(KIF1C):c.153C>T (p.Thr51=) http://identifiers.org/clinvar/380914 ^@ NM_006612.5(KIF1C):c.231T>C (p.Ile77=) http://identifiers.org/clinvar/383987 ^@ NM_006612.5(KIF1C):c.941-17A>T http://identifiers.org/clinvar/382424 ^@ NM_004360.4(CDH1):c.833-17T>C http://identifiers.org/clinvar/388989 ^@ NM_014191.3(SCN8A):c.3943-17C>G http://identifiers.org/clinvar/380314 ^@ NM_014191.3(SCN8A):c.4725G>A (p.Ala1575=) http://identifiers.org/clinvar/377688 ^@ NM_001042432.1(CLN3):c.1197+13C>A http://identifiers.org/clinvar/380324 ^@ NM_004360.4(CDH1):c.1047C>T (p.Asp349=) http://identifiers.org/clinvar/380883 ^@ NM_006612.5(KIF1C):c.1293G>A (p.Thr431=) http://identifiers.org/clinvar/384054 ^@ NM_004360.4(CDH1):c.1083T>C (p.Ala361=) http://identifiers.org/clinvar/388021 ^@ NM_014191.3(SCN8A):c.5385C>T (p.Phe1795=) http://identifiers.org/clinvar/380316 ^@ NM_001042432.1(CLN3):c.1167C>T (p.Tyr389=) http://identifiers.org/clinvar/390366 ^@ NM_000023.3(SGCA):c.600G>A (p.Val200=) http://identifiers.org/clinvar/381525 ^@ NM_000020.2(ACVRL1):c.140G>C (p.Arg47Pro) http://identifiers.org/clinvar/389037 ^@ NM_000020.2(ACVRL1):c.772+6G>A http://identifiers.org/clinvar/377686 ^@ NM_001042432.1(CLN3):c.1057-11C>T http://identifiers.org/clinvar/390713 ^@ NM_000088.3(COL1A1):c.4017C>T (p.Gly1339=) http://identifiers.org/clinvar/378942 ^@ NM_001042432.1(CLN3):c.1056+8A>C http://identifiers.org/clinvar/392909 ^@ NM_000088.3(COL1A1):c.3979G>A (p.Gly1327Ser) http://identifiers.org/clinvar/385199 ^@ NM_004360.4(CDH1):c.1137+9A>C http://identifiers.org/clinvar/381040 ^@ NM_004360.4(CDH1):c.1254T>C (p.Asp418=) http://identifiers.org/clinvar/391269 ^@ NM_000088.3(COL1A1):c.3255C>T (p.Gly1085=) http://identifiers.org/clinvar/389578 ^@ NM_000088.3(COL1A1):c.3237C>A (p.Gly1079=) http://identifiers.org/clinvar/389056 ^@ NM_001042432.1(CLN3):c.777G>A (p.Pro259=) http://identifiers.org/clinvar/379433 ^@ NM_000088.3(COL1A1):c.3223G>A (p.Ala1075Thr) http://identifiers.org/clinvar/381910 ^@ NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) http://identifiers.org/clinvar/388368 ^@ NM_000088.3(COL1A1):c.2944C>A (p.Pro982Thr) http://identifiers.org/clinvar/384284 ^@ NM_004360.4(CDH1):c.1602G>A (p.Glu534=) http://identifiers.org/clinvar/391134 ^@ NM_000088.3(COL1A1):c.1668+16C>T http://identifiers.org/clinvar/392216 ^@ NM_000088.3(COL1A1):c.1300-9C>T http://identifiers.org/clinvar/393035 ^@ NM_001042432.1(CLN3):c.677+19G>A http://identifiers.org/clinvar/377641 ^@ NM_004360.4(CDH1):c.1710T>C (p.Asn570=) http://identifiers.org/clinvar/378063 ^@ NM_005554.3(KRT6A):c.1327C>T (p.Arg443Trp) http://identifiers.org/clinvar/389859 ^@ NM_001042432.1(CLN3):c.533+18G>A http://identifiers.org/clinvar/392158 ^@ NM_000088.3(COL1A1):c.501T>A (p.Tyr167Ter) http://identifiers.org/clinvar/387183 ^@ NM_004360.4(CDH1):c.1917C>T (p.Thr639=) http://identifiers.org/clinvar/377685 ^@ NM_001042432.1(CLN3):c.243G>A (p.Pro81=) http://identifiers.org/clinvar/377642 ^@ NM_004360.4(CDH1):c.2295+14A>G http://identifiers.org/clinvar/390205 ^@ NM_000088.3(COL1A1):c.165C>T (p.Pro55=) http://identifiers.org/clinvar/387794 ^@ NM_006612.5(KIF1C):c.2298C>T (p.His766=) http://identifiers.org/clinvar/385388 ^@ NM_001042432.1(CLN3):c.47-11C>A http://identifiers.org/clinvar/380490 ^@ NM_000424.3(KRT5):c.1474+3A>C http://identifiers.org/clinvar/382250 ^@ NM_004360.4(CDH1):c.2550C>G (p.Ser850=) http://identifiers.org/clinvar/382551 ^@ NM_004360.4(CDH1):c.2556G>A (p.Glu852=) http://identifiers.org/clinvar/390904 ^@ NM_006612.5(KIF1C):c.2376C>T (p.Pro792=) http://identifiers.org/clinvar/387760 ^@ NM_032382.4(COG8):c.1683G>A (p.Thr561=) http://identifiers.org/clinvar/387547 ^@ NM_002206.2(ITGA7):c.3372C>T (p.Pro1124=) http://identifiers.org/clinvar/382673 ^@ NM_002206.2(ITGA7):c.1568-18T>C http://identifiers.org/clinvar/390896 ^@ NM_003321.4(TUFM):c.817+16G>C http://identifiers.org/clinvar/384332 ^@ NM_018896.4(CACNA1G):c.262A>G (p.Met88Val) http://identifiers.org/clinvar/391562 ^@ NM_018896.4(CACNA1G):c.305G>A (p.Arg102Gln) http://identifiers.org/clinvar/385037 ^@ NM_003321.4(TUFM):c.-11G>A http://identifiers.org/clinvar/387724 ^@ NM_018896.4(CACNA1G):c.825C>T (p.Arg275=) http://identifiers.org/clinvar/389359 ^@ NM_002206.2(ITGA7):c.-9G>A http://identifiers.org/clinvar/382324 ^@ NM_018896.4(CACNA1G):c.2576T>G (p.Met859Arg) http://identifiers.org/clinvar/385805 ^@ NM_032382.4(COG8):c.585+11T>C http://identifiers.org/clinvar/391974 ^@ NM_012064.3(MIP):c.401A>C (p.Glu134Ala) http://identifiers.org/clinvar/391623 ^@ NM_001128159.2(VPS53):c.1266C>T (p.Ser422=) http://identifiers.org/clinvar/384556 ^@ NM_032382.4(COG8):c.151C>A (p.Arg51=) http://identifiers.org/clinvar/385578 ^@ NM_001605.2(AARS):c.1704C>T (p.Val568=) http://identifiers.org/clinvar/378457 ^@ NM_058216.2(RAD51C):c.-39C>G http://identifiers.org/clinvar/388660 ^@ NM_004990.3(MARS):c.490+14A>G http://identifiers.org/clinvar/387037 ^@ NM_058216.2(RAD51C):c.-24C>G http://identifiers.org/clinvar/382213 ^@ NM_058216.2(RAD51C):c.-7G>A http://identifiers.org/clinvar/384851 ^@ NM_173201.3(ATP2A1):c.-12G>A http://identifiers.org/clinvar/385145 ^@ NM_173201.3(ATP2A1):c.463+16G>A http://identifiers.org/clinvar/385405 ^@ NM_004990.3(MARS):c.873C>T (p.Ala291=) http://identifiers.org/clinvar/377398 ^@ NM_001605.2(AARS):c.1419C>G (p.Leu473=) http://identifiers.org/clinvar/389061 ^@ NM_001605.2(AARS):c.1275T>C (p.Thr425=) http://identifiers.org/clinvar/387826 ^@ NM_173201.3(ATP2A1):c.839A>G (p.Asn280Ser) http://identifiers.org/clinvar/387418 ^@ NM_173201.3(ATP2A1):c.870C>T (p.Arg290=) http://identifiers.org/clinvar/387405 ^@ NM_173201.3(ATP2A1):c.1815G>C (p.Lys605Asn) http://identifiers.org/clinvar/389734 ^@ NM_001605.2(AARS):c.962+12G>C http://identifiers.org/clinvar/385980 ^@ NM_173201.3(ATP2A1):c.1851C>T (p.Ala617=) http://identifiers.org/clinvar/392138 ^@ NM_004990.3(MARS):c.887+17G>A http://identifiers.org/clinvar/391691 ^@ NM_001605.2(AARS):c.817-7T>C http://identifiers.org/clinvar/389203 ^@ NM_004990.3(MARS):c.1689C>T (p.Val563=) http://identifiers.org/clinvar/388060 ^@ NM_173201.3(ATP2A1):c.1974C>T (p.Phe658=) http://identifiers.org/clinvar/385665 ^@ NM_001605.2(AARS):c.480-12C>G http://identifiers.org/clinvar/388944 ^@ NM_173201.3(ATP2A1):c.2862G>A (p.Pro954=) http://identifiers.org/clinvar/389267 ^@ NM_058216.2(RAD51C):c.93G>A (p.Gly31=) http://identifiers.org/clinvar/381365 ^@ NM_058216.2(RAD51C):c.404+16C>G http://identifiers.org/clinvar/379487 ^@ NM_001605.2(AARS):c.310T>C (p.Trp104Arg) http://identifiers.org/clinvar/383450 ^@ NM_145239.2(PRRT2):c.-32C>T http://identifiers.org/clinvar/388546 ^@ NM_058216.2(RAD51C):c.572-11T>G http://identifiers.org/clinvar/385362 ^@ NM_001605.2(AARS):c.-30C>T http://identifiers.org/clinvar/388643 ^@ NM_004990.3(MARS):c.2421T>C (p.Asn807=) http://identifiers.org/clinvar/388465 ^@ NM_058216.2(RAD51C):c.706-17A>G http://identifiers.org/clinvar/381407 ^@ NM_015386.2(COG4):c.2236-16A>G http://identifiers.org/clinvar/387893 ^@ NM_058216.2(RAD51C):c.819A>G (p.Ala273=) http://identifiers.org/clinvar/384207 ^@ NM_015386.2(COG4):c.1560C>T (p.Ala520=) http://identifiers.org/clinvar/380846 ^@ NM_004990.3(MARS):c.2532G>A (p.Ala844=) http://identifiers.org/clinvar/385059 ^@ NM_004984.2(KIF5A):c.2403C>T (p.Phe801=) http://identifiers.org/clinvar/381262 ^@ NM_145239.2(PRRT2):c.369G>T (p.Gly123=) http://identifiers.org/clinvar/384557 ^@ NM_015386.2(COG4):c.1167C>T (p.Asp389=) http://identifiers.org/clinvar/384068 ^@ NM_145239.2(PRRT2):c.519G>A (p.Glu173=) http://identifiers.org/clinvar/387791 ^@ NM_001478.4(B4GALNT1):c.*2G>A http://identifiers.org/clinvar/383588 ^@ NM_000075.3(CDK4):c.564G>A (p.Gln188=) http://identifiers.org/clinvar/380205 ^@ NM_015386.2(COG4):c.369+13G>T http://identifiers.org/clinvar/381893 ^@ NM_058216.2(RAD51C):c.1027-17T>C http://identifiers.org/clinvar/378433 ^@ NM_145239.2(PRRT2):c.880-11C>T http://identifiers.org/clinvar/380594 ^@ NM_145239.2(PRRT2):c.936A>T (p.Val312=) http://identifiers.org/clinvar/381622 ^@ NM_000075.3(CDK4):c.309T>C (p.Tyr103=) http://identifiers.org/clinvar/383732 ^@ NM_001031737.2(CCDC78):c.267+3G>A http://identifiers.org/clinvar/381395 ^@ NM_001172696.1(TSFM):c.-8C>A http://identifiers.org/clinvar/382669 ^@ NM_145239.2(PRRT2):c.1012+19C>T http://identifiers.org/clinvar/388253 ^@ NM_016077.4(PTRH2):c.51C>T (p.Leu17=) http://identifiers.org/clinvar/389053 ^@ NM_001172696.1(TSFM):c.634+11G>T http://identifiers.org/clinvar/381515 ^@ NM_024306.4(FA2H):c.337C>T (p.Arg113Trp) http://identifiers.org/clinvar/390275 ^@ NM_000034.3(ALDOA):c.-954G>A http://identifiers.org/clinvar/382104 ^@ NM_000034.3(ALDOA):c.-780+18G>C http://identifiers.org/clinvar/388648 ^@ NM_016077.4(PTRH2):c.-17G>A http://identifiers.org/clinvar/387069 ^@ NM_001172696.1(TSFM):c.717C>T (p.His239=) http://identifiers.org/clinvar/386142 ^@ NM_032043.2(BRIP1):c.3461G>C (p.Arg1154Thr) http://identifiers.org/clinvar/380494 ^@ NM_000034.3(ALDOA):c.-780+19G>A http://identifiers.org/clinvar/388874 ^@ NM_000034.3(ALDOA):c.325-9C>T http://identifiers.org/clinvar/378736 ^@ NM_001065.3(TNFRSF1A):c.988G>A (p.Ala330Thr) http://identifiers.org/clinvar/381252 ^@ NM_007074.3(CORO1A):c.804C>T (p.Ser268=) http://identifiers.org/clinvar/388646 ^@ NM_000294.2(PHKG2):c.360A>G (p.Thr120=) http://identifiers.org/clinvar/391575 ^@ NM_001065.3(TNFRSF1A):c.959G>A (p.Gly320Glu) http://identifiers.org/clinvar/381200 ^@ NM_000294.2(PHKG2):c.927+17C>G http://identifiers.org/clinvar/391475 ^@ NM_032043.2(BRIP1):c.3093T>C (p.Ser1031=) http://identifiers.org/clinvar/391095 ^@ NM_001065.3(TNFRSF1A):c.894C>G (p.Thr298=) http://identifiers.org/clinvar/383298 ^@ NM_000294.2(PHKG2):c.927+18A>G http://identifiers.org/clinvar/379405 ^@ NM_001077416.2(TMEM231):c.741+6A>G http://identifiers.org/clinvar/388315 ^@ NM_032043.2(BRIP1):c.2257+5C>T http://identifiers.org/clinvar/379902 ^@ NM_032043.2(BRIP1):c.2102T>G (p.Leu701Ter) http://identifiers.org/clinvar/379404 ^@ NM_001077416.2(TMEM231):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/391606 ^@ NM_025193.3(HSD3B7):c.385A>G (p.Ser129Gly) http://identifiers.org/clinvar/385987 ^@ NM_001077416.2(TMEM231):c.657G>A (p.Pro219=) http://identifiers.org/clinvar/392968 ^@ NM_001077416.2(TMEM231):c.468+19G>T http://identifiers.org/clinvar/391789 ^@ NM_000243.2(MEFV):c.401C>A (p.Pro134Gln) http://identifiers.org/clinvar/386581 ^@ NM_014254.2(TMEM5):c.825G>A (p.Thr275=) http://identifiers.org/clinvar/393129 ^@ NM_004380.2(CREBBP):c.5323T>C (p.Cys1775Arg) http://identifiers.org/clinvar/392653 ^@ NM_032043.2(BRIP1):c.1903C>T (p.Leu635=) http://identifiers.org/clinvar/377594 ^@ NM_032043.2(BRIP1):c.1794+19T>C http://identifiers.org/clinvar/392223 ^@ NM_003480.3(MFAP5):c.410-18G>A http://identifiers.org/clinvar/381191 ^@ NM_003480.3(MFAP5):c.172+5A>G http://identifiers.org/clinvar/390287 ^@ NM_032043.2(BRIP1):c.1767A>G (p.Leu589=) http://identifiers.org/clinvar/379761 ^@ NM_001077416.2(TMEM231):c.-28G>T http://identifiers.org/clinvar/390922 ^@ NM_003480.3(MFAP5):c.157G>A (p.Ala53Thr) http://identifiers.org/clinvar/393031 ^@ NM_213655.4(WNK1):c.2833C>T (p.Arg945Trp) http://identifiers.org/clinvar/390599 ^@ NM_032043.2(BRIP1):c.1629-14T>C http://identifiers.org/clinvar/382290 ^@ NM_032043.2(BRIP1):c.1628+18G>C http://identifiers.org/clinvar/383748 ^@ NM_145891.2(RBFOX1):c.413G>A (p.Arg138Gln) http://identifiers.org/clinvar/387576 ^@ NM_016373.3(WWOX):c.9G>C (p.Ala3=) http://identifiers.org/clinvar/383868 ^@ NM_016373.3(WWOX):c.231-20C>G http://identifiers.org/clinvar/392283 ^@ NM_032043.2(BRIP1):c.1443T>C (p.Gly481=) http://identifiers.org/clinvar/386272 ^@ NM_025114.3(CEP290):c.7219A>C (p.Lys2407Gln) http://identifiers.org/clinvar/379900 ^@ NM_032043.2(BRIP1):c.918+8A>C http://identifiers.org/clinvar/377591 ^@ NM_032043.2(BRIP1):c.628-16C>A http://identifiers.org/clinvar/383820 ^@ NM_016373.3(WWOX):c.332C>G (p.Thr111Ser) http://identifiers.org/clinvar/377590 ^@ NM_032043.2(BRIP1):c.628-20G>A http://identifiers.org/clinvar/383978 ^@ NM_016373.3(WWOX):c.409+16A>T http://identifiers.org/clinvar/389975 ^@ NM_032043.2(BRIP1):c.508-15G>T http://identifiers.org/clinvar/387416 ^@ NM_025114.3(CEP290):c.7034+10G>A http://identifiers.org/clinvar/391224 ^@ NM_025114.3(CEP290):c.6960+10G>A http://identifiers.org/clinvar/387089 ^@ NM_016373.3(WWOX):c.409+17G>A http://identifiers.org/clinvar/386950 ^@ NM_025114.3(CEP290):c.6092C>A (p.Ala2031Asp) http://identifiers.org/clinvar/388457 ^@ NM_016373.3(WWOX):c.410-3T>C http://identifiers.org/clinvar/379278 ^@ NM_032043.2(BRIP1):c.507+14A>G http://identifiers.org/clinvar/381032 ^@ NM_025114.3(CEP290):c.2183A>G (p.Asn728Ser) http://identifiers.org/clinvar/379365 ^@ NM_032043.2(BRIP1):c.-32A>G http://identifiers.org/clinvar/388113 ^@ NM_025114.3(CEP290):c.1729C>T (p.Leu577=) http://identifiers.org/clinvar/384551 ^@ NM_016373.3(WWOX):c.606-17G>C http://identifiers.org/clinvar/387105 ^@ NM_016373.3(WWOX):c.618G>A (p.Val206=) http://identifiers.org/clinvar/384672 ^@ NM_144670.5(A2ML1):c.1476+9G>A http://identifiers.org/clinvar/388700 ^@ NM_000293.2(PHKB):c.2689T>C (p.Leu897=) http://identifiers.org/clinvar/393130 ^@ NM_144670.5(A2ML1):c.2404C>T (p.Arg802Cys) http://identifiers.org/clinvar/384673 ^@ NM_144670.5(A2ML1):c.2909G>A (p.Cys970Tyr) http://identifiers.org/clinvar/387873 ^@ NM_016373.3(WWOX):c.669T>C (p.Asp223=) http://identifiers.org/clinvar/387982 ^@ NM_019109.4(ALG1):c.540-13T>C http://identifiers.org/clinvar/384182 ^@ NM_016373.3(WWOX):c.723G>A (p.Gln241=) http://identifiers.org/clinvar/382683 ^@ NM_016373.3(WWOX):c.876T>G (p.Ala292=) http://identifiers.org/clinvar/383783 ^@ NM_144670.5(A2ML1):c.3237G>A (p.Val1079=) http://identifiers.org/clinvar/384670 ^@ NM_144670.5(A2ML1):c.3769A>G (p.Met1257Val) http://identifiers.org/clinvar/380955 ^@ NM_016373.3(WWOX):c.957C>T (p.Asn319=) http://identifiers.org/clinvar/387131 ^@ NM_019109.4(ALG1):c.901A>C (p.Lys301Gln) http://identifiers.org/clinvar/385063 ^@ NM_001128159.2(VPS53):c.1089C>T (p.Ser363=) http://identifiers.org/clinvar/381822 ^@ NM_016360.3(TACO1):c.609A>C (p.Leu203=) http://identifiers.org/clinvar/381892 ^@ NM_016122.2(CEP83):c.1118A>T (p.Asp373Val) http://identifiers.org/clinvar/380391 ^@ NM_000334.4(SCN4A):c.4463T>C (p.Leu1488Pro) http://identifiers.org/clinvar/388276 ^@ NM_018838.4(NDUFA12):c.-11A>G http://identifiers.org/clinvar/391169 ^@ NM_016373.3(WWOX):c.1056+6A>T http://identifiers.org/clinvar/385855 ^@ NM_019109.4(ALG1):c.1222C>T (p.Leu408=) http://identifiers.org/clinvar/384521 ^@ NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) http://identifiers.org/clinvar/391689 ^@ NM_016373.3(WWOX):c.1066G>A (p.Ala356Thr) http://identifiers.org/clinvar/387392 ^@ NM_003276.2(TMPO):c.1155G>A (p.Leu385=) http://identifiers.org/clinvar/392079 ^@ NM_016373.3(WWOX):c.1077C>T (p.Thr359=) http://identifiers.org/clinvar/390740 ^@ NM_003276.2(TMPO):c.1563A>C (p.Pro521=) http://identifiers.org/clinvar/385755 ^@ NM_000334.4(SCN4A):c.3442-18G>T http://identifiers.org/clinvar/382759 ^@ NM_016373.3(WWOX):c.*3G>T http://identifiers.org/clinvar/388780 ^@ NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) http://identifiers.org/clinvar/388869 ^@ NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) http://identifiers.org/clinvar/387001 ^@ NM_016373.3(WWOX):c.*18T>C http://identifiers.org/clinvar/386296 ^@ NM_020312.3(COQ9):c.336C>T (p.Pro112=) http://identifiers.org/clinvar/387967 ^@ NM_020312.3(COQ9):c.342C>T (p.His114=) http://identifiers.org/clinvar/382748 ^@ NM_000334.4(SCN4A):c.2386C>T (p.Leu796=) http://identifiers.org/clinvar/390244 ^@ NM_022041.3(GAN):c.492C>T (p.Val164=) http://identifiers.org/clinvar/377744 ^@ NM_020312.3(COQ9):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/383923 ^@ NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) http://identifiers.org/clinvar/380666 ^@ NM_005682.6(ADGRG1):c.236G>A (p.Arg79Gln) http://identifiers.org/clinvar/389065 ^@ NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) http://identifiers.org/clinvar/389964 ^@ NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) http://identifiers.org/clinvar/381540 ^@ NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) http://identifiers.org/clinvar/383444 ^@ NM_022041.3(GAN):c.634-15T>C http://identifiers.org/clinvar/378597 ^@ NM_005888.3(SLC25A3):c.55C>T (p.Leu19=) http://identifiers.org/clinvar/377932 ^@ NM_005682.6(ADGRG1):c.1860C>T (p.Gly620=) http://identifiers.org/clinvar/389191 ^@ NM_007215.3(POLG2):c.624T>C (p.Leu208=) http://identifiers.org/clinvar/384234 ^@ NM_004614.4(TK2):c.727A>C (p.Arg243=) http://identifiers.org/clinvar/392123 ^@ NM_005888.3(SLC25A3):c.432T>C (p.Phe144=) http://identifiers.org/clinvar/387448 ^@ NM_000282.3(PCCA):c.1131T>G (p.Ala377=) http://identifiers.org/clinvar/382657 ^@ NM_022041.3(GAN):c.1502+11A>G http://identifiers.org/clinvar/390687 ^@ NM_007215.3(POLG2):c.563-18T>G http://identifiers.org/clinvar/383296 ^@ NM_000282.3(PCCA):c.1285-15C>T http://identifiers.org/clinvar/378408 ^@ NM_007215.3(POLG2):c.315G>A (p.Glu105=) http://identifiers.org/clinvar/383059 ^@ NM_012213.2(MLYCD):c.-7G>A http://identifiers.org/clinvar/379673 ^@ NM_004614.4(TK2):c.514A>G (p.Met172Val) http://identifiers.org/clinvar/388277 ^@ NM_004614.4(TK2):c.486G>T (p.Ser162=) http://identifiers.org/clinvar/383288 ^@ NM_000282.3(PCCA):c.1285-7C>T http://identifiers.org/clinvar/382482 ^@ NM_012213.2(MLYCD):c.12C>T (p.Phe4=) http://identifiers.org/clinvar/390892 ^@ NM_004614.4(TK2):c.125-10T>C http://identifiers.org/clinvar/382156 ^@ NM_006565.3(CTCF):c.2000-3C>T http://identifiers.org/clinvar/380431 ^@ NM_004655.3(AXIN2):c.2403T>C (p.Tyr801=) http://identifiers.org/clinvar/392751 ^@ NM_001846.3(COL4A2):c.3920C>G (p.Pro1307Arg) http://identifiers.org/clinvar/382251 ^@ NM_004360.4(CDH1):c.24C>T (p.Leu8=) http://identifiers.org/clinvar/382608 ^@ NM_024537.3(CARS2):c.1317+10C>T http://identifiers.org/clinvar/382065 ^@ NM_024537.3(CARS2):c.1132C>T (p.Arg378Cys) http://identifiers.org/clinvar/379889 ^@ NM_004004.5(GJB2):c.23C>T (p.Thr8Met) http://identifiers.org/clinvar/386040 ^@ NM_012213.2(MLYCD):c.375C>G (p.Ala125=) http://identifiers.org/clinvar/388075 ^@ NM_004360.4(CDH1):c.327G>A (p.Lys109=) http://identifiers.org/clinvar/390004 ^@ NM_012213.2(MLYCD):c.799-15G>A http://identifiers.org/clinvar/381236 ^@ NM_004360.4(CDH1):c.375C>A (p.Pro125=) http://identifiers.org/clinvar/379300 ^@ NM_004360.4(CDH1):c.531+17T>C http://identifiers.org/clinvar/378997 ^@ NM_004655.3(AXIN2):c.2103T>C (p.Cys701=) http://identifiers.org/clinvar/389227 ^@ NM_000231.2(SGCG):c.196-16T>C http://identifiers.org/clinvar/386403 ^@ NM_016529.5(ATP8A2):c.1286A>T (p.Lys429Met) http://identifiers.org/clinvar/379313 ^@ NM_004360.4(CDH1):c.833-17T>A http://identifiers.org/clinvar/384520 ^@ NM_004655.3(AXIN2):c.1907+20G>A http://identifiers.org/clinvar/391020 ^@ NM_004655.3(AXIN2):c.1712+14G>A http://identifiers.org/clinvar/382102 ^@ NM_012213.2(MLYCD):c.1074G>A (p.Ser358=) http://identifiers.org/clinvar/386354 ^@ NM_012213.2(MLYCD):c.1146C>T (p.Ser382=) http://identifiers.org/clinvar/393104 ^@ NM_004655.3(AXIN2):c.1665C>T (p.Cys555=) http://identifiers.org/clinvar/380244 ^@ NM_004360.4(CDH1):c.864C>T (p.Asp288=) http://identifiers.org/clinvar/387254 ^@ NM_012213.2(MLYCD):c.1191G>A (p.Pro397=) http://identifiers.org/clinvar/385192 ^@ NM_000209.3(PDX1):c.6C>T (p.Asn2=) http://identifiers.org/clinvar/382200 ^@ NM_004360.4(CDH1):c.1009-16G>A http://identifiers.org/clinvar/386025 ^@ NM_004655.3(AXIN2):c.1479G>C (p.Ser493=) http://identifiers.org/clinvar/377545 ^@ NM_004655.3(AXIN2):c.1327C>T (p.Leu443=) http://identifiers.org/clinvar/381246 ^@ NM_000059.3(BRCA2):c.141A>G (p.Ala47=) http://identifiers.org/clinvar/383461 ^@ NM_001080442.2(SLC38A8):c.913T>C (p.Ser305Pro) http://identifiers.org/clinvar/389161 ^@ NM_020686.5(ABAT):c.1394G>A (p.Gly465Asp) http://identifiers.org/clinvar/388645 ^@ NM_001739.1(CA5A):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/377639 ^@ NM_004360.4(CDH1):c.1009-8C>T http://identifiers.org/clinvar/379947 ^@ NM_001739.1(CA5A):c.143-9T>A http://identifiers.org/clinvar/389977 ^@ NM_004655.3(AXIN2):c.1293C>T (p.Tyr431=) http://identifiers.org/clinvar/381157 ^@ NM_000059.3(BRCA2):c.174A>G (p.Glu58=) http://identifiers.org/clinvar/381245 ^@ NM_004360.4(CDH1):c.2295+15C>T http://identifiers.org/clinvar/381764 ^@ NM_004360.4(CDH1):c.2296-15C>T http://identifiers.org/clinvar/390711 ^@ NM_004655.3(AXIN2):c.1266C>A (p.Pro422=) http://identifiers.org/clinvar/385599 ^@ NM_000059.3(BRCA2):c.240A>T (p.Ile80=) http://identifiers.org/clinvar/385786 ^@ NM_004360.4(CDH1):c.*17G>A http://identifiers.org/clinvar/386303 ^@ NM_004655.3(AXIN2):c.1201-19C>T http://identifiers.org/clinvar/377544 ^@ NM_004655.3(AXIN2):c.1200+20C>T http://identifiers.org/clinvar/380380 ^@ NM_000059.3(BRCA2):c.285A>C (p.Val95=) http://identifiers.org/clinvar/388256 ^@ NM_032382.4(COG8):c.1143A>G (p.Lys381=) http://identifiers.org/clinvar/380536 ^@ NM_001739.1(CA5A):c.138C>A (p.Asn46Lys) http://identifiers.org/clinvar/382281 ^@ NM_032382.4(COG8):c.15G>A (p.Ala5=) http://identifiers.org/clinvar/391652 ^@ NM_000059.3(BRCA2):c.600A>G (p.Thr200=) http://identifiers.org/clinvar/386407 ^@ NM_000059.3(BRCA2):c.606C>G (p.Pro202=) http://identifiers.org/clinvar/380517 ^@ NM_001739.1(CA5A):c.135T>A (p.Asn45Lys) http://identifiers.org/clinvar/392788 ^@ NM_004655.3(AXIN2):c.888C>T (p.Ser296=) http://identifiers.org/clinvar/382758 ^@ NM_001605.2(AARS):c.2547C>T (p.Ile849=) http://identifiers.org/clinvar/386600 ^@ NM_001605.2(AARS):c.2521-10T>C http://identifiers.org/clinvar/379257 ^@ NM_000303.2(PMM2):c.310C>G (p.Leu104Val) http://identifiers.org/clinvar/393246 ^@ NM_001127464.2(ZNF469):c.3079C>A (p.Arg1027Ser) http://identifiers.org/clinvar/381242 ^@ NM_000059.3(BRCA2):c.1839A>G (p.Leu613=) http://identifiers.org/clinvar/382284 ^@ NM_000059.3(BRCA2):c.2239G>A (p.Glu747Lys) http://identifiers.org/clinvar/377543 ^@ NM_004655.3(AXIN2):c.815+5G>A http://identifiers.org/clinvar/388683 ^@ NM_001605.2(AARS):c.2238C>T (p.Ala746=) http://identifiers.org/clinvar/378956 ^@ NM_004655.3(AXIN2):c.738C>T (p.Thr246=) http://identifiers.org/clinvar/385941 ^@ NM_000059.3(BRCA2):c.3642G>A (p.Val1214=) http://identifiers.org/clinvar/383074 ^@ NM_000059.3(BRCA2):c.3942G>A (p.Lys1314=) http://identifiers.org/clinvar/383383 ^@ NM_004655.3(AXIN2):c.435C>G (p.Val145=) http://identifiers.org/clinvar/384894 ^@ NM_004655.3(AXIN2):c.135C>T (p.Val45=) http://identifiers.org/clinvar/379934 ^@ NM_000059.3(BRCA2):c.3989A>G (p.Asn1330Ser) http://identifiers.org/clinvar/381226 ^@ NM_000059.3(BRCA2):c.4077T>C (p.Thr1359=) http://identifiers.org/clinvar/377399 ^@ NM_001605.2(AARS):c.2178-14G>A http://identifiers.org/clinvar/385590 ^@ NM_000059.3(BRCA2):c.5226C>T (p.Asn1742=) http://identifiers.org/clinvar/384819 ^@ NM_001127464.2(ZNF469):c.3689C>A (p.Ala1230Glu) http://identifiers.org/clinvar/382299 ^@ NM_004655.3(AXIN2):c.-7C>T http://identifiers.org/clinvar/392539 ^@ NM_001127464.2(ZNF469):c.8493C>T (p.Phe2831=) http://identifiers.org/clinvar/388284 ^@ NM_004655.3(AXIN2):c.-28C>G http://identifiers.org/clinvar/392225 ^@ NM_001127464.2(ZNF469):c.9077A>C (p.Glu3026Ala) http://identifiers.org/clinvar/388236 ^@ NM_001127464.2(ZNF469):c.10243G>C (p.Gly3415Arg) http://identifiers.org/clinvar/383479 ^@ NM_001605.2(AARS):c.1842C>T (p.Ala614=) http://identifiers.org/clinvar/393118 ^@ NM_001605.2(AARS):c.1812C>G (p.Asn604Lys) http://identifiers.org/clinvar/381469 ^@ NM_000059.3(BRCA2):c.5637G>A (p.Glu1879=) http://identifiers.org/clinvar/392226 ^@ NM_001127464.2(ZNF469):c.10388C>G (p.Pro3463Arg) http://identifiers.org/clinvar/388421 ^@ NM_000059.3(BRCA2):c.6096T>C (p.Ala2032=) http://identifiers.org/clinvar/392639 ^@ NM_004655.3(AXIN2):c.-116-16T>G http://identifiers.org/clinvar/392983 ^@ NM_000059.3(BRCA2):c.6493T>C (p.Leu2165=) http://identifiers.org/clinvar/387201 ^@ NM_001605.2(AARS):c.1405G>A (p.Ala469Thr) http://identifiers.org/clinvar/386072 ^@ NM_001605.2(AARS):c.882C>T (p.Ala294=) http://identifiers.org/clinvar/387276 ^@ NM_000059.3(BRCA2):c.6541G>A (p.Gly2181Arg) http://identifiers.org/clinvar/388243 ^@ NM_001605.2(AARS):c.621C>T (p.Asp207=) http://identifiers.org/clinvar/391183 ^@ NM_177550.4(SLC13A5):c.1576-13G>A http://identifiers.org/clinvar/385328 ^@ NM_000059.3(BRCA2):c.6717A>G (p.Glu2239=) http://identifiers.org/clinvar/380207 ^@ NM_177550.4(SLC13A5):c.1372G>A (p.Val458Met) http://identifiers.org/clinvar/386959 ^@ NM_177550.4(SLC13A5):c.1281G>A (p.Ser427=) http://identifiers.org/clinvar/386377 ^@ NM_001127464.2(ZNF469):c.10434G>A (p.Pro3478=) http://identifiers.org/clinvar/389957 ^@ NM_001127464.2(ZNF469):c.10572G>A (p.Pro3524=) http://identifiers.org/clinvar/388054 ^@ NM_177550.4(SLC13A5):c.1095C>G (p.Thr365=) http://identifiers.org/clinvar/392530 ^@ NM_001127464.2(ZNF469):c.10771G>A (p.Val3591Met) http://identifiers.org/clinvar/390671 ^@ NM_177550.4(SLC13A5):c.1017C>T (p.Pro339=) http://identifiers.org/clinvar/385892 ^@ NM_001605.2(AARS):c.581G>A (p.Arg194Gln) http://identifiers.org/clinvar/389416 ^@ NM_000303.2(PMM2):c.*18C>T http://identifiers.org/clinvar/379376 ^@ NM_000059.3(BRCA2):c.6783A>G (p.Glu2261=) http://identifiers.org/clinvar/381962 ^@ NM_001142864.3(PIEZO1):c.7500C>T (p.Tyr2500=) http://identifiers.org/clinvar/385104 ^@ NM_000059.3(BRCA2):c.6841+10C>T http://identifiers.org/clinvar/390157 ^@ NM_001605.2(AARS):c.145-17C>T http://identifiers.org/clinvar/386622 ^@ NM_000059.3(BRCA2):c.6979T>C (p.Leu2327=) http://identifiers.org/clinvar/392502 ^@ NM_015386.2(COG4):c.2348A>G (p.Asp783Gly) http://identifiers.org/clinvar/379301 ^@ NM_000059.3(BRCA2):c.7347T>C (p.Ile2449=) http://identifiers.org/clinvar/388732 ^@ NM_174917.4(ACSF3):c.-23T>C http://identifiers.org/clinvar/391654 ^@ NM_000059.3(BRCA2):c.7671A>G (p.Ala2557=) http://identifiers.org/clinvar/385007 ^@ NM_174917.4(ACSF3):c.411C>T (p.Val137=) http://identifiers.org/clinvar/383649 ^@ NM_015386.2(COG4):c.897G>A (p.Gly299=) http://identifiers.org/clinvar/387444 ^@ NM_000059.3(BRCA2):c.7839G>A (p.Lys2613=) http://identifiers.org/clinvar/381877 ^@ NM_174917.4(ACSF3):c.854C>T (p.Pro285Leu) http://identifiers.org/clinvar/388734 ^@ NM_174917.4(ACSF3):c.1239G>A (p.Lys413=) http://identifiers.org/clinvar/380899 ^@ NM_177550.4(SLC13A5):c.1005C>T (p.Pro335=) http://identifiers.org/clinvar/383661 ^@ NM_024306.4(FA2H):c.1039+16T>G http://identifiers.org/clinvar/377432 ^@ NM_174917.4(ACSF3):c.1470G>C (p.Glu490Asp) http://identifiers.org/clinvar/381844 ^@ NM_174917.4(ACSF3):c.1629G>A (p.Pro543=) http://identifiers.org/clinvar/380471 ^@ NM_001077416.2(TMEM231):c.878A>G (p.Asp293Gly) http://identifiers.org/clinvar/385284 ^@ NM_177550.4(SLC13A5):c.1005C>A (p.Pro335=) http://identifiers.org/clinvar/379008 ^@ NM_000059.3(BRCA2):c.8097T>C (p.Asn2699=) http://identifiers.org/clinvar/379890 ^@ NM_013275.5(ANKRD11):c.7570-1G>A http://identifiers.org/clinvar/380470 ^@ NM_001077416.2(TMEM231):c.69C>G (p.Arg23=) http://identifiers.org/clinvar/381831 ^@ NM_000059.3(BRCA2):c.8170G>T (p.Gly2724Trp) http://identifiers.org/clinvar/380365 ^@ NM_013275.5(ANKRD11):c.3573C>G (p.Ala1191=) http://identifiers.org/clinvar/385470 ^@ NM_016373.3(WWOX):c.414C>T (p.Phe138=) http://identifiers.org/clinvar/379009 ^@ NM_000059.3(BRCA2):c.8226T>C (p.Asn2742=) http://identifiers.org/clinvar/389363 ^@ NM_016373.3(WWOX):c.605+17A>C http://identifiers.org/clinvar/381939 ^@ NM_000059.3(BRCA2):c.8331+13G>A http://identifiers.org/clinvar/379782 ^@ NM_013275.5(ANKRD11):c.2825G>A (p.Arg942Lys) http://identifiers.org/clinvar/383394 ^@ NM_013275.5(ANKRD11):c.541G>A (p.Ala181Thr) http://identifiers.org/clinvar/378639 ^@ NM_003119.3(SPG7):c.244C>G (p.Gln82Glu) http://identifiers.org/clinvar/381026 ^@ NM_003119.3(SPG7):c.618+15G>A http://identifiers.org/clinvar/387801 ^@ NM_177550.4(SLC13A5):c.945G>A (p.Ala315=) http://identifiers.org/clinvar/392506 ^@ NM_003119.3(SPG7):c.1171C>T (p.Arg391Trp) http://identifiers.org/clinvar/385852 ^@ NM_000059.3(BRCA2):c.8349T>C (p.Thr2783=) http://identifiers.org/clinvar/383465 ^@ NM_177550.4(SLC13A5):c.801C>T (p.Phe267=) http://identifiers.org/clinvar/390271 ^@ NM_000059.3(BRCA2):c.8388T>C (p.Pro2796=) http://identifiers.org/clinvar/379616 ^@ NM_000059.3(BRCA2):c.8559A>G (p.Lys2853=) http://identifiers.org/clinvar/385137 ^@ NM_177550.4(SLC13A5):c.717-16C>T http://identifiers.org/clinvar/380943 ^@ NM_016373.3(WWOX):c.754C>G (p.Pro252Ala) http://identifiers.org/clinvar/379025 ^@ NM_000059.3(BRCA2):c.8754+19A>T http://identifiers.org/clinvar/379136 ^@ NM_003119.3(SPG7):c.1324+4187C>T http://identifiers.org/clinvar/389049 ^@ NM_003119.3(SPG7):c.2103+7C>T http://identifiers.org/clinvar/390119 ^@ NM_016373.3(WWOX):c.856G>T (p.Asp286Tyr) http://identifiers.org/clinvar/383224 ^@ NM_002768.4(CHMP1A):c.*95G>A http://identifiers.org/clinvar/380948 ^@ NM_002768.4(CHMP1A):c.*94C>T http://identifiers.org/clinvar/382727 ^@ NM_016373.3(WWOX):c.876T>C (p.Ala292=) http://identifiers.org/clinvar/390838 ^@ NM_002768.4(CHMP1A):c.7+13G>T http://identifiers.org/clinvar/380936 ^@ NM_177550.4(SLC13A5):c.716+11G>C http://identifiers.org/clinvar/388512 ^@ NM_000059.3(BRCA2):c.8979A>T (p.Ser2993=) http://identifiers.org/clinvar/378837 ^@ NM_006086.3(TUBB3):c.109G>A (p.Val37Met) http://identifiers.org/clinvar/386699 ^@ NM_000059.3(BRCA2):c.9597T>C (p.Thr3199=) http://identifiers.org/clinvar/388607 ^@ NM_177550.4(SLC13A5):c.663C>T (p.Thr221=) http://identifiers.org/clinvar/380203 ^@ NM_000059.3(BRCA2):c.9619A>T (p.Ile3207Phe) http://identifiers.org/clinvar/380877 ^@ NM_001128159.2(VPS53):c.219-11T>C http://identifiers.org/clinvar/392838 ^@ NM_000891.2(KCNJ2):c.-217+11C>T http://identifiers.org/clinvar/384476 ^@ NM_006086.3(TUBB3):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/389729 ^@ NM_000059.3(BRCA2):c.9648+18C>G http://identifiers.org/clinvar/385944 ^@ NM_000059.3(BRCA2):c.9993T>A (p.Ile3331=) http://identifiers.org/clinvar/392394 ^@ NM_000833.4(GRIN2A):c.4096C>T (p.Pro1366Ser) http://identifiers.org/clinvar/382145 ^@ NM_016373.3(WWOX):c.1179G>A (p.Thr393=) http://identifiers.org/clinvar/384616 ^@ NM_016373.3(WWOX):c.1197G>A (p.Ala399=) http://identifiers.org/clinvar/377585 ^@ NM_000059.3(BRCA2):c.9995C>G (p.Ser3332Cys) http://identifiers.org/clinvar/377939 ^@ NM_000833.4(GRIN2A):c.2007+16T>C http://identifiers.org/clinvar/378007 ^@ NM_000891.2(KCNJ2):c.1254C>G (p.Pro418=) http://identifiers.org/clinvar/377586 ^@ NM_000059.3(BRCA2):c.10035A>G (p.Ala3345=) http://identifiers.org/clinvar/382921 ^@ NM_016373.3(WWOX):c.*15G>A http://identifiers.org/clinvar/389206 ^@ NM_022041.3(GAN):c.159G>T (p.Pro53=) http://identifiers.org/clinvar/392305 ^@ NM_000346.3(SOX9):c.370G>C (p.Ala124Pro) http://identifiers.org/clinvar/391483 ^@ NM_207361.5(FREM2):c.2596T>A (p.Phe866Ile) http://identifiers.org/clinvar/391790 ^@ NM_020751.2(COG6):c.*3A>T http://identifiers.org/clinvar/389353 ^@ NM_000018.3(ACADVL):c.369C>T (p.Asp123=) http://identifiers.org/clinvar/385582 ^@ NM_000018.3(ACADVL):c.759G>A (p.Gly253=) http://identifiers.org/clinvar/392588 ^@ NM_022041.3(GAN):c.358C>T (p.Leu120=) http://identifiers.org/clinvar/385671 ^@ NM_000018.3(ACADVL):c.1236G>A (p.Gln412=) http://identifiers.org/clinvar/381203 ^@ NM_012213.2(MLYCD):c.-33G>C http://identifiers.org/clinvar/381315 ^@ NM_173477.4(USH1G):c.261C>T (p.Phe87=) http://identifiers.org/clinvar/390554 ^@ NM_012213.2(MLYCD):c.393C>T (p.Tyr131=) http://identifiers.org/clinvar/378148 ^@ NM_012213.2(MLYCD):c.507G>A (p.Leu169=) http://identifiers.org/clinvar/390265 ^@ NM_014252.3(SLC25A15):c.18T>C (p.Ala6=) http://identifiers.org/clinvar/377938 ^@ NM_000833.4(GRIN2A):c.1652-14C>G http://identifiers.org/clinvar/387075 ^@ NM_012213.2(MLYCD):c.894C>G (p.Leu298=) http://identifiers.org/clinvar/389180 ^@ NM_000303.2(PMM2):c.348-19G>A http://identifiers.org/clinvar/383004 ^@ NM_000833.4(GRIN2A):c.1593G>A (p.Thr531=) http://identifiers.org/clinvar/383617 ^@ NM_000833.4(GRIN2A):c.1329-9T>G http://identifiers.org/clinvar/386708 ^@ NM_000053.3(ATP7B):c.3405A>G (p.Ala1135=) http://identifiers.org/clinvar/381534 ^@ NM_000053.3(ATP7B):c.2905C>T (p.Arg969Trp) http://identifiers.org/clinvar/390699 ^@ NM_015971.3(MRPS7):c.27C>T (p.Ala9=) http://identifiers.org/clinvar/386031 ^@ NM_000053.3(ATP7B):c.1728G>A (p.Ala576=) http://identifiers.org/clinvar/387238 ^@ NM_000833.4(GRIN2A):c.687C>T (p.Leu229=) http://identifiers.org/clinvar/380587 ^@ NM_015971.3(MRPS7):c.47C>T (p.Ala16Val) http://identifiers.org/clinvar/388662 ^@ NM_004589.3(SCO1):c.620G>A (p.Arg207Lys) http://identifiers.org/clinvar/391599 ^@ NM_001042517.1(DIAPH3):c.3227G>A (p.Arg1076His) http://identifiers.org/clinvar/383692 ^@ NM_006493.2(CLN5):c.-11G>C http://identifiers.org/clinvar/392679 ^@ NM_001127464.2(ZNF469):c.1065C>A (p.Leu355=) http://identifiers.org/clinvar/377689 ^@ NM_006493.2(CLN5):c.54A>G (p.Gln18=) http://identifiers.org/clinvar/386432 ^@ NM_004589.3(SCO1):c.396C>G (p.Gly132=) http://identifiers.org/clinvar/390963 ^@ NM_001127464.2(ZNF469):c.1689C>T (p.Phe563=) http://identifiers.org/clinvar/380071 ^@ NM_015971.3(MRPS7):c.624G>A (p.Lys208=) http://identifiers.org/clinvar/386288 ^@ NM_021734.4(SLC25A19):c.642T>C (p.Asn214=) http://identifiers.org/clinvar/381715 ^@ NM_199242.2(UNC13D):c.753+3G>A http://identifiers.org/clinvar/380960 ^@ NM_000546.5(TP53):c.*13C>T http://identifiers.org/clinvar/382985 ^@ NM_018127.6(ELAC2):c.2109-17C>G http://identifiers.org/clinvar/385946 ^@ NM_000546.5(TP53):c.*6T>A http://identifiers.org/clinvar/379971 ^@ NM_018127.6(ELAC2):c.1560A>G (p.Thr520=) http://identifiers.org/clinvar/387112 ^@ NM_000546.5(TP53):c.1100+16C>T http://identifiers.org/clinvar/382777 ^@ NM_000546.5(TP53):c.1100+3G>C http://identifiers.org/clinvar/387082 ^@ NM_006493.2(CLN5):c.57C>A (p.Gly19=) http://identifiers.org/clinvar/379801 ^@ NM_000546.5(TP53):c.993+1G>C http://identifiers.org/clinvar/387733 ^@ NM_007129.3(ZIC2):c.459G>T (p.Ala153=) http://identifiers.org/clinvar/385681 ^@ NM_001376.4(DYNC1H1):c.256+4C>T http://identifiers.org/clinvar/383776 ^@ NM_001127464.2(ZNF469):c.2841G>A (p.Arg947=) http://identifiers.org/clinvar/378745 ^@ NM_000546.5(TP53):c.782+10C>T http://identifiers.org/clinvar/392330 ^@ NM_001127464.2(ZNF469):c.9161C>T (p.Ala3054Val) http://identifiers.org/clinvar/379595 ^@ NM_000546.5(TP53):c.673-19G>A http://identifiers.org/clinvar/393189 ^@ NM_001127464.2(ZNF469):c.9251G>A (p.Arg3084Gln) http://identifiers.org/clinvar/379969 ^@ NM_018127.6(ELAC2):c.1304+17A>T http://identifiers.org/clinvar/388419 ^@ NM_000546.5(TP53):c.483C>A (p.Ala161=) http://identifiers.org/clinvar/388749 ^@ NM_018127.6(ELAC2):c.738+17G>A http://identifiers.org/clinvar/384065 ^@ NM_000546.5(TP53):c.477C>T (p.Ala159=) http://identifiers.org/clinvar/382955 ^@ NM_018127.6(ELAC2):c.174G>A (p.Val58=) http://identifiers.org/clinvar/386420 ^@ NM_000546.5(TP53):c.471C>A (p.Val157=) http://identifiers.org/clinvar/387623 ^@ NM_000546.5(TP53):c.267C>A (p.Pro89=) http://identifiers.org/clinvar/384596 ^@ NM_000546.5(TP53):c.-11G>A http://identifiers.org/clinvar/384412 ^@ NM_001376.4(DYNC1H1):c.519-18T>C http://identifiers.org/clinvar/378872 ^@ NM_001127464.2(ZNF469):c.10241G>C (p.Arg3414Thr) http://identifiers.org/clinvar/393226 ^@ NM_001142864.3(PIEZO1):c.5891T>A (p.Met1964Lys) http://identifiers.org/clinvar/390279 ^@ NM_018127.6(ELAC2):c.-19T>C http://identifiers.org/clinvar/384805 ^@ NM_173628.3(DNAH17):c.6541+5C>T http://identifiers.org/clinvar/391853 ^@ NM_000152.4(GAA):c.59C>G (p.Ser20Cys) http://identifiers.org/clinvar/386720 ^@ NM_000152.4(GAA):c.297C>G (p.Thr99=) http://identifiers.org/clinvar/391394 ^@ NM_001376.4(DYNC1H1):c.852G>A (p.Ala284=) http://identifiers.org/clinvar/382672 ^@ NM_000152.4(GAA):c.972G>A (p.Pro324=) http://identifiers.org/clinvar/387757 ^@ NM_000152.4(GAA):c.1932C>T (p.Ala644=) http://identifiers.org/clinvar/377745 ^@ NM_001303.3(COX10):c.48C>T (p.Cys16=) http://identifiers.org/clinvar/393225 ^@ NM_001142864.3(PIEZO1):c.3699G>A (p.Ser1233=) http://identifiers.org/clinvar/390612 ^@ NM_001376.4(DYNC1H1):c.1827C>G (p.Ile609Met) http://identifiers.org/clinvar/383592 ^@ NM_001376.4(DYNC1H1):c.2160C>T (p.Ile720=) http://identifiers.org/clinvar/387758 ^@ NM_000152.4(GAA):c.2052G>A (p.Pro684=) http://identifiers.org/clinvar/383973 ^@ NM_001376.4(DYNC1H1):c.3157-11T>C http://identifiers.org/clinvar/389192 ^@ NM_001303.3(COX10):c.695+11G>A http://identifiers.org/clinvar/381006 ^@ NM_000152.4(GAA):c.2132C>G (p.Thr711Arg) http://identifiers.org/clinvar/387113 ^@ NM_001376.4(DYNC1H1):c.3565-10A>C http://identifiers.org/clinvar/379921 ^@ NM_000512.4(GALNS):c.871G>T (p.Ala291Ser) http://identifiers.org/clinvar/382801 ^@ NM_000152.4(GAA):c.2166C>T (p.Thr722=) http://identifiers.org/clinvar/382786 ^@ NM_000152.4(GAA):c.2571G>T (p.Leu857=) http://identifiers.org/clinvar/385074 ^@ NM_001376.4(DYNC1H1):c.4074+11A>T http://identifiers.org/clinvar/383967 ^@ NM_000199.3(SGSH):c.673T>C (p.Phe225Leu) http://identifiers.org/clinvar/377429 ^@ NM_174917.4(ACSF3):c.-193-14A>G http://identifiers.org/clinvar/388812 ^@ NM_001139.2(ALOX12B):c.1907G>T (p.Ser636Ile) http://identifiers.org/clinvar/386917 ^@ NM_174917.4(ACSF3):c.-22G>C http://identifiers.org/clinvar/382588 ^@ NM_001303.3(COX10):c.930C>T (p.Gly310=) http://identifiers.org/clinvar/387143 ^@ NM_174917.4(ACSF3):c.-20-6C>G http://identifiers.org/clinvar/379379 ^@ NM_001614.3(ACTG1):c.858C>T (p.Asp286=) http://identifiers.org/clinvar/389177 ^@ NM_174917.4(ACSF3):c.666+20G>A http://identifiers.org/clinvar/388888 ^@ NM_174917.4(ACSF3):c.756C>T (p.Asn252=) http://identifiers.org/clinvar/383070 ^@ NM_001376.4(DYNC1H1):c.4416T>A (p.Thr1472=) http://identifiers.org/clinvar/385847 ^@ NM_001376.4(DYNC1H1):c.4941C>T (p.Val1647=) http://identifiers.org/clinvar/391995 ^@ NM_001614.3(ACTG1):c.174C>G (p.Ala58=) http://identifiers.org/clinvar/390458 ^@ NM_001376.4(DYNC1H1):c.5239-13C>A http://identifiers.org/clinvar/388911 ^@ NM_000304.3(PMP22):c.471G>A (p.Arg157=) http://identifiers.org/clinvar/389043 ^@ NM_174917.4(ACSF3):c.852G>A (p.Thr284=) http://identifiers.org/clinvar/385559 ^@ NM_001614.3(ACTG1):c.165C>G (p.Gly55=) http://identifiers.org/clinvar/384327 ^@ NM_000304.3(PMP22):c.448G>C (p.Gly150Arg) http://identifiers.org/clinvar/378379 ^@ NM_000304.3(PMP22):c.396C>T (p.Tyr132=) http://identifiers.org/clinvar/384127 ^@ NM_001614.3(ACTG1):c.-26G>A http://identifiers.org/clinvar/383080 ^@ NM_000304.3(PMP22):c.320-4C>T http://identifiers.org/clinvar/385833 ^@ NM_001376.4(DYNC1H1):c.5239-10T>C http://identifiers.org/clinvar/387156 ^@ NM_144997.5(FLCN):c.1300+15G>A http://identifiers.org/clinvar/390278 ^@ NM_144997.5(FLCN):c.1300+12C>T http://identifiers.org/clinvar/389860 ^@ NM_144997.5(FLCN):c.1227C>T (p.Tyr409=) http://identifiers.org/clinvar/379428 ^@ NM_001614.3(ACTG1):c.-39C>T http://identifiers.org/clinvar/382760 ^@ NM_001614.3(ACTG1):c.-48C>A http://identifiers.org/clinvar/377817 ^@ NM_001376.4(DYNC1H1):c.5700G>T (p.Leu1900=) http://identifiers.org/clinvar/390065 ^@ NM_174917.4(ACSF3):c.978-6G>A http://identifiers.org/clinvar/392367 ^@ NM_006907.3(PYCR1):c.798-1G>A http://identifiers.org/clinvar/377877 ^@ NM_144997.5(FLCN):c.1227C>A (p.Tyr409Ter) http://identifiers.org/clinvar/379220 ^@ NM_144997.5(FLCN):c.1177-2A>G http://identifiers.org/clinvar/390184 ^@ NM_144997.5(FLCN):c.247G>A (p.Glu83Lys) http://identifiers.org/clinvar/390579 ^@ NM_006907.3(PYCR1):c.-4C>G http://identifiers.org/clinvar/385110 ^@ NM_004104.4(FASN):c.5103G>A (p.Ser1701=) http://identifiers.org/clinvar/385480 ^@ NM_001376.4(DYNC1H1):c.5978-19G>A http://identifiers.org/clinvar/393265 ^@ NM_030665.3(RAI1):c.1697C>T (p.Thr566Ile) http://identifiers.org/clinvar/382442 ^@ NM_001376.4(DYNC1H1):c.7290C>T (p.Asn2430=) http://identifiers.org/clinvar/382399 ^@ NM_174917.4(ACSF3):c.1126+4C>T http://identifiers.org/clinvar/385028 ^@ NM_174917.4(ACSF3):c.1131C>T (p.Ser377=) http://identifiers.org/clinvar/392375 ^@ NM_145691.3(ATPAF2):c.75T>G (p.Ala25=) http://identifiers.org/clinvar/389354 ^@ NM_174917.4(ACSF3):c.1501+11G>A http://identifiers.org/clinvar/382875 ^@ NM_001376.4(DYNC1H1):c.8771+6C>A http://identifiers.org/clinvar/391358 ^@ NM_016239.3(MYO15A):c.3641G>A (p.Arg1214Gln) http://identifiers.org/clinvar/392810 ^@ NM_016239.3(MYO15A):c.9876G>A (p.Trp3292Ter) http://identifiers.org/clinvar/377818 ^@ NM_001376.4(DYNC1H1):c.8886+13G>A http://identifiers.org/clinvar/381840 ^@ NM_174917.4(ACSF3):c.1614-10G>C http://identifiers.org/clinvar/380369 ^@ NM_013275.5(ANKRD11):c.6787C>T (p.Pro2263Ser) http://identifiers.org/clinvar/388102 ^@ NM_015681.4(B9D1):c.597C>G (p.Pro199=) http://identifiers.org/clinvar/388012 ^@ NM_001376.4(DYNC1H1):c.9643-7T>C http://identifiers.org/clinvar/387232 ^@ NM_001376.4(DYNC1H1):c.9643-5T>C http://identifiers.org/clinvar/392201 ^@ NM_025099.5(CTC1):c.1459A>G (p.Arg487Gly) http://identifiers.org/clinvar/385963 ^@ NM_016492.4(RANGRF):c.312C>G (p.Val104=) http://identifiers.org/clinvar/384931 ^@ NM_001376.4(DYNC1H1):c.10293C>T (p.Asn3431=) http://identifiers.org/clinvar/387816 ^@ NM_001376.4(DYNC1H1):c.10414-13G>A http://identifiers.org/clinvar/382036 ^@ NM_000430.3(PAFAH1B1):c.33-1G>C http://identifiers.org/clinvar/385949 ^@ NM_003593.2(FOXN1):c.123+11G>A http://identifiers.org/clinvar/380403 ^@ NM_001376.4(DYNC1H1):c.10522C>A (p.Leu3508Ile) http://identifiers.org/clinvar/387321 ^@ NM_013275.5(ANKRD11):c.4667C>G (p.Ala1556Gly) http://identifiers.org/clinvar/389365 ^@ NM_001376.4(DYNC1H1):c.10896C>A (p.Pro3632=) http://identifiers.org/clinvar/382015 ^@ NM_016492.4(RANGRF):c.437+20C>T http://identifiers.org/clinvar/392124 ^@ NM_005993.4(TBCD):c.2260+5G>A http://identifiers.org/clinvar/385335 ^@ NM_006796.2(AFG3L2):c.1064C>T (p.Thr355Met) http://identifiers.org/clinvar/379409 ^@ NM_003593.2(FOXN1):c.830+19A>G http://identifiers.org/clinvar/390378 ^@ NM_003119.3(SPG7):c.1447C>T (p.Gln483Ter) http://identifiers.org/clinvar/392391 ^@ NM_003119.3(SPG7):c.1593C>T (p.His531=) http://identifiers.org/clinvar/385990 ^@ NM_001376.4(DYNC1H1):c.10908+10G>A http://identifiers.org/clinvar/393059 ^@ NM_006796.2(AFG3L2):c.854T>G (p.Met285Arg) http://identifiers.org/clinvar/385499 ^@ NM_003119.3(SPG7):c.1890G>A (p.Leu630=) http://identifiers.org/clinvar/386895 ^@ NM_001376.4(DYNC1H1):c.12180C>G (p.Ala4060=) http://identifiers.org/clinvar/379097 ^@ NM_003119.3(SPG7):c.2103+8G>A http://identifiers.org/clinvar/392379 ^@ NM_003593.2(FOXN1):c.962A>G (p.His321Arg) http://identifiers.org/clinvar/382443 ^@ NM_001376.4(DYNC1H1):c.12354G>A (p.Pro4118=) http://identifiers.org/clinvar/392975 ^@ NM_006796.2(AFG3L2):c.344G>A (p.Gly115Asp) http://identifiers.org/clinvar/390081 ^@ NM_003593.2(FOXN1):c.1215C>T (p.Ser405=) http://identifiers.org/clinvar/382051 ^@ NM_003119.3(SPG7):c.2250G>A (p.Pro750=) http://identifiers.org/clinvar/389909 ^@ NM_002768.4(CHMP1A):c.*7C>T http://identifiers.org/clinvar/387817 ^@ NM_001376.4(DYNC1H1):c.12513+10T>G http://identifiers.org/clinvar/384619 ^@ NM_002768.4(CHMP1A):c.570-20G>C http://identifiers.org/clinvar/392518 ^@ NM_020774.3(MIB1):c.636+7A>C http://identifiers.org/clinvar/378270 ^@ NM_000267.3(NF1):c.46C>T (p.Arg16Cys) http://identifiers.org/clinvar/390802 ^@ NM_000267.3(NF1):c.153T>C (p.Phe51=) http://identifiers.org/clinvar/390779 ^@ NM_020774.3(MIB1):c.768C>T (p.Leu256=) http://identifiers.org/clinvar/390165 ^@ NM_020774.3(MIB1):c.933C>T (p.Leu311=) http://identifiers.org/clinvar/390544 ^@ NM_001376.4(DYNC1H1):c.12795C>T (p.Leu4265=) http://identifiers.org/clinvar/377822 ^@ NM_001376.4(DYNC1H1):c.13024A>G (p.Lys4342Glu) http://identifiers.org/clinvar/391038 ^@ NM_000267.3(NF1):c.681T>C (p.Tyr227=) http://identifiers.org/clinvar/392076 ^@ NM_001376.4(DYNC1H1):c.13349C>T (p.Thr4450Met) http://identifiers.org/clinvar/380321 ^@ NM_000135.2(FANCA):c.3468G>A (p.Leu1156=) http://identifiers.org/clinvar/379846 ^@ NM_020774.3(MIB1):c.1108G>A (p.Gly370Ser) http://identifiers.org/clinvar/392661 ^@ NM_000227.4(LAMA3):c.-11254C>T http://identifiers.org/clinvar/385598 ^@ NM_014646.2(LPIN2):c.2400G>A (p.Pro800=) http://identifiers.org/clinvar/392471 ^@ NM_001077350.2(NPRL3):c.1239G>A (p.Met413Ile) http://identifiers.org/clinvar/388705 ^@ NM_000267.3(NF1):c.1728A>G (p.Gln576=) http://identifiers.org/clinvar/380941 ^@ NM_014844.4(TECPR2):c.-2C>T http://identifiers.org/clinvar/389300 ^@ NM_000267.3(NF1):c.1845+14C>T http://identifiers.org/clinvar/391738 ^@ NM_006086.3(TUBB3):c.167-5C>G http://identifiers.org/clinvar/380873 ^@ NM_014844.4(TECPR2):c.958G>A (p.Val320Ile) http://identifiers.org/clinvar/384356 ^@ NM_000267.3(NF1):c.5750-14G>A http://identifiers.org/clinvar/379330 ^@ NM_000267.3(NF1):c.5779T>G (p.Tyr1927Asp) http://identifiers.org/clinvar/388438 ^@ NM_014844.4(TECPR2):c.2625T>C (p.Ala875=) http://identifiers.org/clinvar/380166 ^@ NM_032374.4(APOPT1):c.-11G>T http://identifiers.org/clinvar/385657 ^@ NM_014646.2(LPIN2):c.2371C>T (p.Leu791=) http://identifiers.org/clinvar/378095 ^@ NM_014646.2(LPIN2):c.1876C>T (p.Pro626Ser) http://identifiers.org/clinvar/378093 ^@ NM_014646.2(LPIN2):c.1169-3C>T http://identifiers.org/clinvar/389766 ^@ NM_000267.3(NF1):c.6858G>T (p.Lys2286Asn) http://identifiers.org/clinvar/391291 ^@ NM_006086.3(TUBB3):c.855C>T (p.Thr285=) http://identifiers.org/clinvar/380695 ^@ NM_006086.3(TUBB3):c.1317C>T (p.Asp439=) http://identifiers.org/clinvar/378092 ^@ NM_014646.2(LPIN2):c.540A>C (p.Thr180=) http://identifiers.org/clinvar/389259 ^@ NM_002878.3(RAD51D):c.921G>A (p.Glu307=) http://identifiers.org/clinvar/389631 ^@ NM_024422.4(DSC2):c.2251-13G>A http://identifiers.org/clinvar/387837 ^@ NM_000833.4(GRIN2A):c.4185G>A (p.Ala1395=) http://identifiers.org/clinvar/381798 ^@ NM_002878.3(RAD51D):c.654T>A (p.Gly218=) http://identifiers.org/clinvar/388072 ^@ NM_002878.3(RAD51D):c.576+19C>T http://identifiers.org/clinvar/389692 ^@ NM_000833.4(GRIN2A):c.3909C>T (p.Asp1303=) http://identifiers.org/clinvar/379942 ^@ NM_032374.4(APOPT1):c.79C>G (p.Pro27Ala) http://identifiers.org/clinvar/379196 ^@ NM_024422.4(DSC2):c.1323T>C (p.Ala441=) http://identifiers.org/clinvar/384168 ^@ NM_000833.4(GRIN2A):c.3030C>T (p.Pro1010=) http://identifiers.org/clinvar/390470 ^@ NM_002878.3(RAD51D):c.421C>T (p.Leu141=) http://identifiers.org/clinvar/387473 ^@ NM_024422.4(DSC2):c.1019C>A (p.Thr340Asn) http://identifiers.org/clinvar/385894 ^@ NM_000833.4(GRIN2A):c.2958T>G (p.Leu986=) http://identifiers.org/clinvar/383953 ^@ NM_024422.4(DSC2):c.70-18T>C http://identifiers.org/clinvar/389278 ^@ NM_000833.4(GRIN2A):c.2566C>A (p.Arg856=) http://identifiers.org/clinvar/392411 ^@ NM_000458.3(HNF1B):c.1561C>T (p.Gln521Ter) http://identifiers.org/clinvar/380922 ^@ NM_022489.3(INF2):c.-10+16C>A http://identifiers.org/clinvar/377941 ^@ NM_000833.4(GRIN2A):c.2325C>T (p.Ile775=) http://identifiers.org/clinvar/385467 ^@ NM_022489.3(INF2):c.519C>T (p.Ser173=) http://identifiers.org/clinvar/377967 ^@ NM_000458.3(HNF1B):c.948C>T (p.Asp316=) http://identifiers.org/clinvar/384034 ^@ NM_022489.3(INF2):c.973C>T (p.Leu325=) http://identifiers.org/clinvar/381896 ^@ NM_001943.4(DSG2):c.81+10C>T http://identifiers.org/clinvar/387690 ^@ NM_001943.4(DSG2):c.1280+18G>C http://identifiers.org/clinvar/380281 ^@ NM_000422.2(KRT17):c.-6G>C http://identifiers.org/clinvar/388522 ^@ NM_022489.3(INF2):c.2139-11G>A http://identifiers.org/clinvar/384108 ^@ NM_002230.2(JUP):c.1941C>T (p.Ala647=) http://identifiers.org/clinvar/386637 ^@ NM_001943.4(DSG2):c.1392A>G (p.Thr464=) http://identifiers.org/clinvar/377805 ^@ NM_001943.4(DSG2):c.2334+9G>A http://identifiers.org/clinvar/389548 ^@ NM_000371.3(TTR):c.70-19G>A http://identifiers.org/clinvar/383333 ^@ NM_000833.4(GRIN2A):c.2070G>A (p.Thr690=) http://identifiers.org/clinvar/382004 ^@ NM_001390.4(DTNA):c.-262451G>C http://identifiers.org/clinvar/377814 ^@ NM_001390.4(DTNA):c.-76404G>A http://identifiers.org/clinvar/380723 ^@ NM_001390.4(DTNA):c.657G>T (p.Pro219=) http://identifiers.org/clinvar/381758 ^@ NM_002230.2(JUP):c.1924+14G>T http://identifiers.org/clinvar/388190 ^@ NM_000833.4(GRIN2A):c.2049G>C (p.Gly683=) http://identifiers.org/clinvar/377940 ^@ NM_000833.4(GRIN2A):c.2008-14C>T http://identifiers.org/clinvar/385345 ^@ NM_001390.4(DTNA):c.877-8C>G http://identifiers.org/clinvar/392174 ^@ NM_001390.4(DTNA):c.2142T>G (p.Ser714=) http://identifiers.org/clinvar/381301 ^@ NM_002230.2(JUP):c.1017C>T (p.Ser339=) http://identifiers.org/clinvar/383882 ^@ NM_022489.3(INF2):c.2240-5T>C http://identifiers.org/clinvar/381787 ^@ NM_000833.4(GRIN2A):c.1728T>C (p.Phe576=) http://identifiers.org/clinvar/386155 ^@ NM_022489.3(INF2):c.3040+16A>G http://identifiers.org/clinvar/382850 ^@ NM_002230.2(JUP):c.942C>T (p.Ala314=) http://identifiers.org/clinvar/392175 ^@ NM_002230.2(JUP):c.257G>A (p.Arg86Gln) http://identifiers.org/clinvar/390764 ^@ NM_022489.3(INF2):c.3476G>A (p.Arg1159His) http://identifiers.org/clinvar/387456 ^@ NM_001390.4(DTNA):c.2146C>T (p.Arg716Trp) http://identifiers.org/clinvar/382584 ^@ NM_001001937.1(ATP5A1):c.1257C>T (p.Ser419=) http://identifiers.org/clinvar/382502 ^@ NM_002230.2(JUP):c.159C>T (p.Tyr53=) http://identifiers.org/clinvar/391026 ^@ NM_000270.3(PNP):c.653-4T>C http://identifiers.org/clinvar/381595 ^@ NM_139276.2(STAT3):c.1397A>C (p.Asn466Thr) http://identifiers.org/clinvar/382049 ^@ NM_001001937.1(ATP5A1):c.667A>G (p.Ile223Val) http://identifiers.org/clinvar/387174 ^@ NM_139276.2(STAT3):c.690C>T (p.Tyr230=) http://identifiers.org/clinvar/381684 ^@ NM_020366.3(RPGRIP1):c.3565C>T (p.Arg1189Ter) http://identifiers.org/clinvar/382347 ^@ NM_139276.2(STAT3):c.373-4G>C http://identifiers.org/clinvar/390288 ^@ NM_001170629.1(CHD8):c.3964G>C (p.Gly1322Arg) http://identifiers.org/clinvar/383064 ^@ NM_025233.6(COASY):c.-235C>G http://identifiers.org/clinvar/383701 ^@ NM_000833.4(GRIN2A):c.1652-6T>C http://identifiers.org/clinvar/386654 ^@ NM_000833.4(GRIN2A):c.1533G>A (p.Ser511=) http://identifiers.org/clinvar/386283 ^@ NM_025233.6(COASY):c.825C>T (p.Pro275=) http://identifiers.org/clinvar/377937 ^@ NM_000833.4(GRIN2A):c.1458C>A (p.Gly486=) http://identifiers.org/clinvar/377534 ^@ NM_001001937.1(ATP5A1):c.310-18A>G http://identifiers.org/clinvar/387460 ^@ NM_025233.6(COASY):c.1047+6C>T http://identifiers.org/clinvar/381143 ^@ NM_000833.4(GRIN2A):c.1437G>A (p.Leu479=) http://identifiers.org/clinvar/380441 ^@ NM_025233.6(COASY):c.1486-5C>G http://identifiers.org/clinvar/388836 ^@ NM_001070.4(TUBG1):c.844-19T>C http://identifiers.org/clinvar/392882 ^@ NM_001170629.1(CHD8):c.1690C>T (p.Arg564Ter) http://identifiers.org/clinvar/384267 ^@ NM_000833.4(GRIN2A):c.561C>T (p.Val187=) http://identifiers.org/clinvar/386085 ^@ NM_001001937.1(ATP5A1):c.267T>C (p.Asn89=) http://identifiers.org/clinvar/380438 ^@ NM_004589.3(SCO1):c.*18G>A http://identifiers.org/clinvar/383039 ^@ NM_004589.3(SCO1):c.672G>A (p.Leu224=) http://identifiers.org/clinvar/380086 ^@ NM_001001937.1(ATP5A1):c.140-4A>G http://identifiers.org/clinvar/387056 ^@ NM_001001937.1(ATP5A1):c.-31C>T http://identifiers.org/clinvar/391214 ^@ NM_001126106.2(SLC7A7):c.*8C>G http://identifiers.org/clinvar/386716 ^@ NM_001126106.2(SLC7A7):c.1281C>T (p.Cys427=) http://identifiers.org/clinvar/389991 ^@ NM_018127.6(ELAC2):c.2151G>A (p.Ala717=) http://identifiers.org/clinvar/379970 ^@ NM_018127.6(ELAC2):c.1305-8T>C http://identifiers.org/clinvar/380534 ^@ NM_001001937.1(ATP5A1):c.-32G>T http://identifiers.org/clinvar/393044 ^@ NM_144612.6(LOXHD1):c.4741-1G>A http://identifiers.org/clinvar/388624 ^@ NM_005359.5(SMAD4):c.-133G>A http://identifiers.org/clinvar/379968 ^@ NM_018127.6(ELAC2):c.1218+15C>T http://identifiers.org/clinvar/392233 ^@ NM_002471.3(MYH6):c.5696G>A (p.Arg1899His) http://identifiers.org/clinvar/380183 ^@ NM_018127.6(ELAC2):c.798-20G>T http://identifiers.org/clinvar/392010 ^@ NM_002471.3(MYH6):c.3469G>A (p.Gly1157Arg) http://identifiers.org/clinvar/380201 ^@ NM_005359.5(SMAD4):c.-20A>C http://identifiers.org/clinvar/380021 ^@ NM_018127.6(ELAC2):c.491-14T>C http://identifiers.org/clinvar/384867 ^@ NM_018127.6(ELAC2):c.95C>G (p.Pro32Arg) http://identifiers.org/clinvar/385686 ^@ NM_001070.4(TUBG1):c.1275G>A (p.Arg425=) http://identifiers.org/clinvar/388467 ^@ NM_005359.5(SMAD4):c.126T>C (p.Ser42=) http://identifiers.org/clinvar/379670 ^@ NM_001303.3(COX10):c.425G>A (p.Arg142Gln) http://identifiers.org/clinvar/377575 ^@ NM_007294.3(BRCA1):c.*4C>T http://identifiers.org/clinvar/384245 ^@ NM_001303.3(COX10):c.1305C>G (p.Gly435=) http://identifiers.org/clinvar/391888 ^@ NM_002471.3(MYH6):c.2430-8C>G http://identifiers.org/clinvar/385269 ^@ NM_000304.3(PMP22):c.-23G>T http://identifiers.org/clinvar/391914 ^@ NM_002471.3(MYH6):c.2141G>T (p.Arg714Leu) http://identifiers.org/clinvar/378626 ^@ NM_005359.5(SMAD4):c.787+15T>G http://identifiers.org/clinvar/391101 ^@ NM_005359.5(SMAD4):c.1533G>A (p.Pro511=) http://identifiers.org/clinvar/382220 ^@ NM_017775.3(TTC19):c.723C>T (p.Asp241=) http://identifiers.org/clinvar/383141 ^@ NM_007294.3(BRCA1):c.5475G>T (p.Gly1825=) http://identifiers.org/clinvar/387372 ^@ NM_007294.3(BRCA1):c.5406+17C>T http://identifiers.org/clinvar/382271 ^@ NM_002471.3(MYH6):c.1960C>A (p.Arg654=) http://identifiers.org/clinvar/390075 ^@ NM_144997.5(FLCN):c.1301-18G>A http://identifiers.org/clinvar/384824 ^@ NM_144997.5(FLCN):c.618+15G>T http://identifiers.org/clinvar/384807 ^@ NM_007294.3(BRCA1):c.5406+15C>A http://identifiers.org/clinvar/392796 ^@ NM_001163809.1(WDR81):c.1564C>T (p.Gln522Ter) http://identifiers.org/clinvar/386422 ^@ NM_007294.3(BRCA1):c.5332+16A>G http://identifiers.org/clinvar/389536 ^@ NM_002471.3(MYH6):c.1155G>A (p.Ser385=) http://identifiers.org/clinvar/378718 ^@ NM_001083962.1(TCF4):c.*5-18T>C http://identifiers.org/clinvar/379638 ^@ NM_015681.4(B9D1):c.473-93A>G http://identifiers.org/clinvar/392649 ^@ NM_001383.4(DPH1):c.763C>T (p.Arg255Trp) http://identifiers.org/clinvar/389033 ^@ NM_000267.3(NF1):c.7258+13A>G http://identifiers.org/clinvar/387752 ^@ NM_000267.3(NF1):c.7259-16A>G http://identifiers.org/clinvar/378958 ^@ NM_007294.3(BRCA1):c.5124G>A (p.Ala1708=) http://identifiers.org/clinvar/391456 ^@ NM_002471.3(MYH6):c.540C>T (p.Ser180=) http://identifiers.org/clinvar/378464 ^@ NM_002878.3(RAD51D):c.*7C>T http://identifiers.org/clinvar/380856 ^@ NM_007294.3(BRCA1):c.5052T>C (p.Thr1684=) http://identifiers.org/clinvar/385031 ^@ NM_002878.3(RAD51D):c.630G>A (p.Ala210=) http://identifiers.org/clinvar/378462 ^@ NM_002878.3(RAD51D):c.576+18C>T http://identifiers.org/clinvar/383202 ^@ NM_007294.3(BRCA1):c.4675+20A>G http://identifiers.org/clinvar/386841 ^@ NM_000257.3(MYH7):c.5638C>T (p.Arg1880Cys) http://identifiers.org/clinvar/386544 ^@ NM_007294.3(BRCA1):c.4428G>A (p.Lys1476=) http://identifiers.org/clinvar/383193 ^@ NM_007294.3(BRCA1):c.4358-9C>T http://identifiers.org/clinvar/392781 ^@ NM_002878.3(RAD51D):c.576+12G>C http://identifiers.org/clinvar/380266 ^@ NM_002878.3(RAD51D):c.346-16A>G http://identifiers.org/clinvar/388613 ^@ NM_007294.3(BRCA1):c.4323C>T (p.Asp1441=) http://identifiers.org/clinvar/386129 ^@ NM_002878.3(RAD51D):c.276G>C (p.Leu92=) http://identifiers.org/clinvar/392018 ^@ NM_001083962.1(TCF4):c.1879+13C>T http://identifiers.org/clinvar/381710 ^@ NM_001083962.1(TCF4):c.1773C>T (p.Leu591=) http://identifiers.org/clinvar/390471 ^@ NM_002878.3(RAD51D):c.264-4T>C http://identifiers.org/clinvar/381549 ^@ NM_001083962.1(TCF4):c.1727G>A (p.Arg576Gln) http://identifiers.org/clinvar/384118 ^@ NM_007294.3(BRCA1):c.4137T>C (p.Ser1379=) http://identifiers.org/clinvar/391078 ^@ NM_007294.3(BRCA1):c.3787T>C (p.Leu1263=) http://identifiers.org/clinvar/381350 ^@ NM_007294.3(BRCA1):c.3021A>G (p.Ser1007=) http://identifiers.org/clinvar/388548 ^@ NM_007294.3(BRCA1):c.3003A>G (p.Glu1001=) http://identifiers.org/clinvar/388852 ^@ NM_000257.3(MYH7):c.5500G>T (p.Ala1834Ser) http://identifiers.org/clinvar/384514 ^@ NM_002878.3(RAD51D):c.263+7G>A http://identifiers.org/clinvar/389936 ^@ NM_002878.3(RAD51D):c.83-19A>G http://identifiers.org/clinvar/389518 ^@ NM_002878.3(RAD51D):c.-7G>T http://identifiers.org/clinvar/378879 ^@ NM_000257.3(MYH7):c.5253T>C (p.Ala1751=) http://identifiers.org/clinvar/379811 ^@ NM_000458.3(HNF1B):c.1108G>A (p.Gly370Ser) http://identifiers.org/clinvar/378214 ^@ NM_000257.3(MYH7):c.4513C>T (p.Leu1505=) http://identifiers.org/clinvar/381483 ^@ NM_000257.3(MYH7):c.4353+6C>T http://identifiers.org/clinvar/390631 ^@ NM_000257.3(MYH7):c.4275C>T (p.Ile1425=) http://identifiers.org/clinvar/386487 ^@ NM_007294.3(BRCA1):c.2763G>A (p.Gln921=) http://identifiers.org/clinvar/386046 ^@ NM_000257.3(MYH7):c.3981C>T (p.Asn1327=) http://identifiers.org/clinvar/381601 ^@ NM_000458.3(HNF1B):c.182T>G (p.Val61Gly) http://identifiers.org/clinvar/380715 ^@ NM_000526.4(KRT14):c.1263C>T (p.Gly421=) http://identifiers.org/clinvar/385498 ^@ NM_007294.3(BRCA1):c.2712A>G (p.Glu904=) http://identifiers.org/clinvar/390306 ^@ NM_000257.3(MYH7):c.3177G>T (p.Leu1059=) http://identifiers.org/clinvar/386211 ^@ NM_002230.2(JUP):c.*14A>C http://identifiers.org/clinvar/386793 ^@ NM_007294.3(BRCA1):c.2674T>C (p.Leu892=) http://identifiers.org/clinvar/388952 ^@ NM_001083962.1(TCF4):c.1351-17T>A http://identifiers.org/clinvar/381239 ^@ NM_001083962.1(TCF4):c.923-17G>T http://identifiers.org/clinvar/378978 ^@ NM_000257.3(MYH7):c.2931C>T (p.Asn977=) http://identifiers.org/clinvar/382354 ^@ NM_000257.3(MYH7):c.519C>T (p.Ser173=) http://identifiers.org/clinvar/383475 ^@ NM_007294.3(BRCA1):c.1257A>T (p.Val419=) http://identifiers.org/clinvar/383427 ^@ NM_000257.3(MYH7):c.-16T>C http://identifiers.org/clinvar/378712 ^@ NM_001083962.1(TCF4):c.207+16C>G http://identifiers.org/clinvar/389424 ^@ NM_005249.4(FOXG1):c.-18C>T http://identifiers.org/clinvar/389738 ^@ NM_005603.4(ATP8B1):c.3655G>A (p.Asp1219Asn) http://identifiers.org/clinvar/391431 ^@ NM_005603.4(ATP8B1):c.2251G>A (p.Glu751Lys) http://identifiers.org/clinvar/384899 ^@ NM_005603.4(ATP8B1):c.1029+19A>C http://identifiers.org/clinvar/387087 ^@ NM_005249.4(FOXG1):c.256C>G (p.Gln86Glu) http://identifiers.org/clinvar/387602 ^@ NM_002230.2(JUP):c.1908C>T (p.Ser636=) http://identifiers.org/clinvar/390253 ^@ NM_005249.4(FOXG1):c.268G>T (p.Ala90Ser) http://identifiers.org/clinvar/381996 ^@ NM_002230.2(JUP):c.1851G>A (p.Ala617=) http://identifiers.org/clinvar/391067 ^@ NM_176787.4(PIGN):c.1694G>T (p.Arg565Leu) http://identifiers.org/clinvar/380546 ^@ NM_005249.4(FOXG1):c.420C>A (p.Val140=) http://identifiers.org/clinvar/383429 ^@ NM_005249.4(FOXG1):c.437A>G (p.Glu146Gly) http://identifiers.org/clinvar/384114 ^@ NM_007294.3(BRCA1):c.1212A>G (p.Glu404=) http://identifiers.org/clinvar/389874 ^@ NM_007294.3(BRCA1):c.696T>C (p.Asp232=) http://identifiers.org/clinvar/391068 ^@ NM_176787.4(PIGN):c.923-12T>A http://identifiers.org/clinvar/390216 ^@ NM_002230.2(JUP):c.1824G>T (p.Leu608=) http://identifiers.org/clinvar/383900 ^@ NM_007294.3(BRCA1):c.302-11G>A http://identifiers.org/clinvar/382526 ^@ NM_007294.3(BRCA1):c.212+13G>A http://identifiers.org/clinvar/379177 ^@ NM_002230.2(JUP):c.1371C>T (p.Cys457=) http://identifiers.org/clinvar/379116 ^@ NM_005249.4(FOXG1):c.504G>A (p.Gly168=) http://identifiers.org/clinvar/389884 ^@ NM_002230.2(JUP):c.1165C>T (p.Leu389=) http://identifiers.org/clinvar/383929 ^@ NM_005249.4(FOXG1):c.1190C>T (p.Ser397Phe) http://identifiers.org/clinvar/378361 ^@ NM_176787.4(PIGN):c.283C>T (p.Arg95Trp) http://identifiers.org/clinvar/380297 ^@ NM_005559.3(LAMA1):c.4665C>T (p.Ser1555=) http://identifiers.org/clinvar/392024 ^@ NM_005249.4(FOXG1):c.1320C>G (p.Ser440=) http://identifiers.org/clinvar/389985 ^@ NM_007294.3(BRCA1):c.171G>T (p.Gly57=) http://identifiers.org/clinvar/380343 ^@ NM_007294.3(BRCA1):c.81-16C>A http://identifiers.org/clinvar/381942 ^@ NM_005249.4(FOXG1):c.1392G>C (p.Thr464=) http://identifiers.org/clinvar/386468 ^@ NM_173630.3(RTTN):c.5541+16G>T http://identifiers.org/clinvar/378901 ^@ NM_007294.3(BRCA1):c.80+9G>C http://identifiers.org/clinvar/384935 ^@ NM_173630.3(RTTN):c.5212C>T (p.His1738Tyr) http://identifiers.org/clinvar/385189 ^@ NM_007294.3(BRCA1):c.-19-9G>C http://identifiers.org/clinvar/380721 ^@ NM_007294.3(BRCA1):c.-25G>A http://identifiers.org/clinvar/390379 ^@ NM_139276.2(STAT3):c.646-18G>A http://identifiers.org/clinvar/388359 ^@ NM_007294.3(BRCA1):c.-49G>A http://identifiers.org/clinvar/387844 ^@ NM_173630.3(RTTN):c.3003C>T (p.Tyr1001=) http://identifiers.org/clinvar/386255 ^@ NM_173630.3(RTTN):c.2568T>A (p.Ala856=) http://identifiers.org/clinvar/387973 ^@ NM_153006.2(NAGS):c.612A>G (p.Val204=) http://identifiers.org/clinvar/390090 ^@ NM_025233.6(COASY):c.81C>T (p.Thr27=) http://identifiers.org/clinvar/390792 ^@ NM_021914.7(CFL2):c.198C>T (p.Asp66=) http://identifiers.org/clinvar/388666 ^@ NM_153006.2(NAGS):c.1452-11C>T http://identifiers.org/clinvar/385905 ^@ NM_173630.3(RTTN):c.1458G>A (p.Thr486=) http://identifiers.org/clinvar/380938 ^@ NM_173630.3(RTTN):c.694-9T>G http://identifiers.org/clinvar/387137 ^@ NM_025233.6(COASY):c.825C>A (p.Pro275=) http://identifiers.org/clinvar/384711 ^@ NM_006939.3(SOS2):c.3813G>A (p.Pro1271=) http://identifiers.org/clinvar/392955 ^@ NM_173630.3(RTTN):c.61G>A (p.Ala21Thr) http://identifiers.org/clinvar/384710 ^@ NM_006939.3(SOS2):c.2232C>T (p.Asn744=) http://identifiers.org/clinvar/392673 ^@ NM_004247.3(EFTUD2):c.2347+1G>T http://identifiers.org/clinvar/384132 ^@ NM_173630.3(RTTN):c.-19T>G http://identifiers.org/clinvar/384796 ^@ NM_001130823.2(DNMT1):c.4599C>T (p.Leu1533=) http://identifiers.org/clinvar/379737 ^@ NM_004247.3(EFTUD2):c.1096C>T (p.Gln366Ter) http://identifiers.org/clinvar/389391 ^@ NM_006939.3(SOS2):c.1344G>A (p.Leu448=) http://identifiers.org/clinvar/386436 ^@ NM_001193466.1(KANSL1):c.3138C>G (p.Pro1046=) http://identifiers.org/clinvar/383779 ^@ NM_006939.3(SOS2):c.88-6T>C http://identifiers.org/clinvar/384290 ^@ NM_001130823.2(DNMT1):c.2587-18G>A http://identifiers.org/clinvar/379781 ^@ NM_024884.2(L2HGDH):c.256+1G>A http://identifiers.org/clinvar/390274 ^@ NM_007294.3(BRCA1):c.5451G>A (p.Glu1817=) http://identifiers.org/clinvar/377787 ^@ NM_001130823.2(DNMT1):c.1280+14C>G http://identifiers.org/clinvar/392273 ^@ NM_001193466.1(KANSL1):c.3053C>T (p.Thr1018Ile) http://identifiers.org/clinvar/379140 ^@ NM_001130823.2(DNMT1):c.1095C>T (p.His365=) http://identifiers.org/clinvar/391817 ^@ NM_015915.4(ATL1):c.1105A>C (p.Lys369Gln) http://identifiers.org/clinvar/387872 ^@ NM_001193466.1(KANSL1):c.3030G>A (p.Pro1010=) http://identifiers.org/clinvar/391323 ^@ NM_001160147.1(DDHD1):c.1815C>T (p.His605=) http://identifiers.org/clinvar/384462 ^@ NM_007294.3(BRCA1):c.5332+20C>A http://identifiers.org/clinvar/377574 ^@ NM_007294.3(BRCA1):c.5332+19C>T http://identifiers.org/clinvar/382077 ^@ NM_001160147.1(DDHD1):c.1077C>T (p.His359=) http://identifiers.org/clinvar/389458 ^@ NM_007294.3(BRCA1):c.5332+19C>G http://identifiers.org/clinvar/379187 ^@ NM_001193466.1(KANSL1):c.3002C>T (p.Pro1001Leu) http://identifiers.org/clinvar/380452 ^@ NM_001031734.3(FDX1L):c.210-14C>T http://identifiers.org/clinvar/388523 ^@ NM_001193466.1(KANSL1):c.2677G>A (p.Val893Ile) http://identifiers.org/clinvar/382499 ^@ NM_007294.3(BRCA1):c.5332+8C>T http://identifiers.org/clinvar/383564 ^@ NM_007294.3(BRCA1):c.5153-11G>T http://identifiers.org/clinvar/379972 ^@ NM_001031734.3(FDX1L):c.154+16G>A http://identifiers.org/clinvar/382602 ^@ NM_001160147.1(DDHD1):c.1008A>G (p.Lys336=) http://identifiers.org/clinvar/377573 ^@ NM_007294.3(BRCA1):c.5152+15A>G http://identifiers.org/clinvar/380446 ^@ NM_001160147.1(DDHD1):c.453G>A (p.Pro151=) http://identifiers.org/clinvar/384512 ^@ NM_007294.3(BRCA1):c.5075-3C>T http://identifiers.org/clinvar/379962 ^@ NM_001160147.1(DDHD1):c.354C>T (p.His118=) http://identifiers.org/clinvar/391123 ^@ NM_007294.3(BRCA1):c.5008A>C (p.Arg1670=) http://identifiers.org/clinvar/385265 ^@ NM_007294.3(BRCA1):c.4515T>C (p.Asp1505=) http://identifiers.org/clinvar/377993 ^@ NM_001193466.1(KANSL1):c.2661G>A (p.Thr887=) http://identifiers.org/clinvar/387633 ^@ NM_001160147.1(DDHD1):c.12G>A (p.Pro4=) http://identifiers.org/clinvar/388810 ^@ NM_007294.3(BRCA1):c.4096+18T>C http://identifiers.org/clinvar/380248 ^@ NM_007294.3(BRCA1):c.3822A>C (p.Val1274=) http://identifiers.org/clinvar/380631 ^@ NM_001193466.1(KANSL1):c.2524G>A (p.Val842Ile) http://identifiers.org/clinvar/391529 ^@ NM_001005360.2(DNM2):c.102C>A (p.Ile34=) http://identifiers.org/clinvar/388639 ^@ NM_001005360.2(DNM2):c.471G>A (p.Lys157=) http://identifiers.org/clinvar/380405 ^@ NM_001193466.1(KANSL1):c.2401C>A (p.His801Asn) http://identifiers.org/clinvar/388306 ^@ NM_001202.5(BMP4):c.898C>T (p.Arg300Trp) http://identifiers.org/clinvar/384467 ^@ NM_002892.3(ARID4A):c.907-3C>T http://identifiers.org/clinvar/386173 ^@ NM_001005360.2(DNM2):c.993-14C>T http://identifiers.org/clinvar/389454 ^@ NM_007294.3(BRCA1):c.2742G>A (p.Glu914=) http://identifiers.org/clinvar/392256 ^@ NM_015346.3(ZFYVE26):c.4854C>T (p.Leu1618=) http://identifiers.org/clinvar/388335 ^@ NM_001005360.2(DNM2):c.1423-13C>T http://identifiers.org/clinvar/379457 ^@ NM_001005360.2(DNM2):c.1782-7C>A http://identifiers.org/clinvar/389508 ^@ NM_015346.3(ZFYVE26):c.3846T>G (p.Pro1282=) http://identifiers.org/clinvar/379024 ^@ NM_007294.3(BRCA1):c.2727T>C (p.Asn909=) http://identifiers.org/clinvar/380667 ^@ NM_001005360.2(DNM2):c.2544-19G>A http://identifiers.org/clinvar/389324 ^@ NM_001128849.1(SMARCA4):c.335C>T (p.Pro112Leu) http://identifiers.org/clinvar/384078 ^@ NM_001193466.1(KANSL1):c.2322A>G (p.Pro774=) http://identifiers.org/clinvar/379763 ^@ NM_001193466.1(KANSL1):c.1652C>T (p.Thr551Ile) http://identifiers.org/clinvar/388269 ^@ NM_182476.2(COQ6):c.358-17T>C http://identifiers.org/clinvar/390270 ^@ NM_007294.3(BRCA1):c.1152G>A (p.Glu384=) http://identifiers.org/clinvar/392036 ^@ NM_007294.3(BRCA1):c.957C>T (p.Asn319=) http://identifiers.org/clinvar/388278 ^@ NM_005050.3(ABCD4):c.*5C>T http://identifiers.org/clinvar/378919 ^@ NM_007294.3(BRCA1):c.441+13G>A http://identifiers.org/clinvar/377990 ^@ NM_001193466.1(KANSL1):c.1431+13T>G http://identifiers.org/clinvar/383627 ^@ NM_005050.3(ABCD4):c.1753-18G>A http://identifiers.org/clinvar/391016 ^@ NM_001128849.1(SMARCA4):c.1017C>T (p.Pro339=) http://identifiers.org/clinvar/380254 ^@ NM_001193466.1(KANSL1):c.949A>G (p.Ile317Val) http://identifiers.org/clinvar/382994 ^@ NM_005050.3(ABCD4):c.1704G>A (p.Gln568=) http://identifiers.org/clinvar/380505 ^@ NM_005050.3(ABCD4):c.1560-12A>C http://identifiers.org/clinvar/380504 ^@ NM_005050.3(ABCD4):c.1533C>T (p.Gly511=) http://identifiers.org/clinvar/385067 ^@ NM_001193466.1(KANSL1):c.858T>C (p.Ala286=) http://identifiers.org/clinvar/380609 ^@ NM_007294.3(BRCA1):c.302-15C>G http://identifiers.org/clinvar/377988 ^@ NM_001193466.1(KANSL1):c.744A>G (p.Leu248=) http://identifiers.org/clinvar/390396 ^@ NM_005050.3(ABCD4):c.1093G>T (p.Gly365Cys) http://identifiers.org/clinvar/380515 ^@ NM_005050.3(ABCD4):c.1028+6G>T http://identifiers.org/clinvar/391724 ^@ NM_001128849.1(SMARCA4):c.2593A>G (p.Lys865Glu) http://identifiers.org/clinvar/381695 ^@ NM_001193466.1(KANSL1):c.736A>G (p.Ser246Gly) http://identifiers.org/clinvar/392782 ^@ NM_007294.3(BRCA1):c.-20+5T>C http://identifiers.org/clinvar/380260 ^@ NM_001193466.1(KANSL1):c.610G>A (p.Gly204Ser) http://identifiers.org/clinvar/380708 ^@ NM_001128849.1(SMARCA4):c.4170+17C>T http://identifiers.org/clinvar/386611 ^@ NM_153006.2(NAGS):c.246G>A (p.Pro82=) http://identifiers.org/clinvar/391153 ^@ NM_001128849.1(SMARCA4):c.4760C>T (p.Ser1587Leu) http://identifiers.org/clinvar/378228 ^@ NM_153006.2(NAGS):c.284C>T (p.Pro95Leu) http://identifiers.org/clinvar/380707 ^@ NM_001128849.1(SMARCA4):c.4864+16G>T http://identifiers.org/clinvar/384588 ^@ NM_004247.3(EFTUD2):c.422G>A (p.Gly141Asp) http://identifiers.org/clinvar/380370 ^@ NM_001193466.1(KANSL1):c.530A>G (p.Asn177Ser) http://identifiers.org/clinvar/378674 ^@ NM_000455.4(STK11):c.84C>T (p.Arg28=) http://identifiers.org/clinvar/384365 ^@ NM_000455.4(STK11):c.168G>C (p.Gly56=) http://identifiers.org/clinvar/382247 ^@ NM_000455.4(STK11):c.291-20C>G http://identifiers.org/clinvar/383018 ^@ NM_005050.3(ABCD4):c.867C>T (p.Ile289=) http://identifiers.org/clinvar/386273 ^@ NM_005050.3(ABCD4):c.752G>A (p.Arg251His) http://identifiers.org/clinvar/381258 ^@ NM_001193466.1(KANSL1):c.112G>A (p.Gly38Ser) http://identifiers.org/clinvar/379627 ^@ NM_004247.3(EFTUD2):c.103G>T (p.Glu35Ter) http://identifiers.org/clinvar/377928 ^@ NM_004287.4(GOSR2):c.-26G>C http://identifiers.org/clinvar/385540 ^@ NM_000455.4(STK11):c.300A>G (p.Gln100=) http://identifiers.org/clinvar/382479 ^@ NM_005050.3(ABCD4):c.751C>T (p.Arg251Cys) http://identifiers.org/clinvar/379314 ^@ NM_000455.4(STK11):c.465-15G>T http://identifiers.org/clinvar/391464 ^@ NM_001193466.1(KANSL1):c.*2C>T http://identifiers.org/clinvar/384754 ^@ NM_000455.4(STK11):c.759C>T (p.Tyr253=) http://identifiers.org/clinvar/380496 ^@ NM_005050.3(ABCD4):c.176A>G (p.Gln59Arg) http://identifiers.org/clinvar/380748 ^@ NM_000455.4(STK11):c.843G>A (p.Pro281=) http://identifiers.org/clinvar/377994 ^@ NM_001193466.1(KANSL1):c.3264C>T (p.Leu1088=) http://identifiers.org/clinvar/390120 ^@ NM_001193466.1(KANSL1):c.3158A>G (p.Gln1053Arg) http://identifiers.org/clinvar/387036 ^@ NM_000455.4(STK11):c.862+20G>T http://identifiers.org/clinvar/378678 ^@ NM_000455.4(STK11):c.863-14C>T http://identifiers.org/clinvar/386516 ^@ NM_000159.3(GCDH):c.-35G>A http://identifiers.org/clinvar/385906 ^@ NM_001193466.1(KANSL1):c.2985G>A (p.Pro995=) http://identifiers.org/clinvar/377929 ^@ NM_004287.4(GOSR2):c.72G>A (p.Thr24=) http://identifiers.org/clinvar/388893 ^@ NM_000159.3(GCDH):c.335-14C>T http://identifiers.org/clinvar/382722 ^@ NM_001193466.1(KANSL1):c.2837+8G>A http://identifiers.org/clinvar/390996 ^@ NM_001193466.1(KANSL1):c.2538A>G (p.Thr846=) http://identifiers.org/clinvar/379391 ^@ NM_004287.4(GOSR2):c.249G>T (p.Ala83=) http://identifiers.org/clinvar/383680 ^@ NM_001193466.1(KANSL1):c.2502A>G (p.Ala834=) http://identifiers.org/clinvar/380710 ^@ NM_001193466.1(KANSL1):c.2235G>C (p.Arg745Ser) http://identifiers.org/clinvar/388000 ^@ NM_001271043.2(NFIX):c.843-16T>C http://identifiers.org/clinvar/380547 ^@ NM_001193466.1(KANSL1):c.2106G>C (p.Lys702Asn) http://identifiers.org/clinvar/383916 ^@ NM_005050.3(ABCD4):c.57A>G (p.Gln19=) http://identifiers.org/clinvar/381206 ^@ NM_053013.3(ENO3):c.201G>A (p.Glu67=) http://identifiers.org/clinvar/390117 ^@ NM_001271043.2(NFIX):c.1427-15C>T http://identifiers.org/clinvar/379459 ^@ NM_001193466.1(KANSL1):c.1855C>T (p.Arg619Trp) http://identifiers.org/clinvar/391986 ^@ NM_001171167.1(CAMTA2):c.1834+1G>A http://identifiers.org/clinvar/382762 ^@ NM_001127221.1(CACNA1A):c.*214C>T http://identifiers.org/clinvar/390509 ^@ NM_006612.5(KIF1C):c.430-10T>C http://identifiers.org/clinvar/380915 ^@ NM_006612.5(KIF1C):c.1019+18A>G http://identifiers.org/clinvar/380513 ^@ NM_005050.3(ABCD4):c.10G>C (p.Ala4Pro) http://identifiers.org/clinvar/380555 ^@ NM_194279.3(ISCA2):c.-36C>A http://identifiers.org/clinvar/384496 ^@ NM_001127221.1(CACNA1A):c.6777C>T (p.His2259=) http://identifiers.org/clinvar/387200 ^@ NM_001127221.1(CACNA1A):c.6665C>T (p.Pro2222Leu) http://identifiers.org/clinvar/379692 ^@ NM_001193466.1(KANSL1):c.1781G>A (p.Arg594His) http://identifiers.org/clinvar/383881 ^@ NM_001127221.1(CACNA1A):c.6611A>G (p.Lys2204Arg) http://identifiers.org/clinvar/383890 ^@ NM_006612.5(KIF1C):c.1020-14C>G http://identifiers.org/clinvar/386754 ^@ NM_001127221.1(CACNA1A):c.6529+11C>G http://identifiers.org/clinvar/386507 ^@ NM_194279.3(ISCA2):c.130G>C (p.Glu44Gln) http://identifiers.org/clinvar/389120 ^@ NM_001127221.1(CACNA1A):c.6411C>T (p.Asp2137=) http://identifiers.org/clinvar/385724 ^@ NM_006612.5(KIF1C):c.1365C>T (p.Asn455=) http://identifiers.org/clinvar/387793 ^@ NM_006612.5(KIF1C):c.1656A>G (p.Pro552=) http://identifiers.org/clinvar/392631 ^@ NM_001127221.1(CACNA1A):c.6342+10G>C http://identifiers.org/clinvar/386799 ^@ NM_001127221.1(CACNA1A):c.6070G>A (p.Gly2024Ser) http://identifiers.org/clinvar/381117 ^@ NM_001193466.1(KANSL1):c.1606A>G (p.Thr536Ala) http://identifiers.org/clinvar/377991 ^@ NM_001193466.1(KANSL1):c.1574C>G (p.Pro525Arg) http://identifiers.org/clinvar/383723 ^@ NM_001127221.1(CACNA1A):c.6018C>T (p.Ala2006=) http://identifiers.org/clinvar/381587 ^@ NM_000088.3(COL1A1):c.3106C>T (p.Arg1036Cys) http://identifiers.org/clinvar/380561 ^@ NM_194279.3(ISCA2):c.290+10A>C http://identifiers.org/clinvar/390020 ^@ NM_001193466.1(KANSL1):c.1527T>G (p.Asp509Glu) http://identifiers.org/clinvar/392606 ^@ NM_003239.4(TGFB3):c.797G>A (p.Arg266His) http://identifiers.org/clinvar/383395 ^@ NM_000088.3(COL1A1):c.1785T>A (p.Ala595=) http://identifiers.org/clinvar/379317 ^@ NM_001193466.1(KANSL1):c.1343G>A (p.Arg448His) http://identifiers.org/clinvar/391451 ^@ NM_003239.4(TGFB3):c.517-16T>C http://identifiers.org/clinvar/387527 ^@ NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) http://identifiers.org/clinvar/389119 ^@ NM_001127221.1(CACNA1A):c.5943+15G>A http://identifiers.org/clinvar/388028 ^@ NM_001127221.1(CACNA1A):c.5843-16G>A http://identifiers.org/clinvar/386734 ^@ NM_001193466.1(KANSL1):c.1289+9A>C http://identifiers.org/clinvar/393245 ^@ NM_000088.3(COL1A1):c.964C>T (p.Arg322Cys) http://identifiers.org/clinvar/391265 ^@ NM_003239.4(TGFB3):c.351C>T (p.His117=) http://identifiers.org/clinvar/380699 ^@ NM_001193466.1(KANSL1):c.1277G>C (p.Arg426Pro) http://identifiers.org/clinvar/391868 ^@ NM_003239.4(TGFB3):c.11A>G (p.His4Arg) http://identifiers.org/clinvar/391159 ^@ NM_001127221.1(CACNA1A):c.5511C>T (p.Ala1837=) http://identifiers.org/clinvar/387307 ^@ NM_001193466.1(KANSL1):c.1227G>A (p.Gly409=) http://identifiers.org/clinvar/391380 ^@ NM_000088.3(COL1A1):c.801C>T (p.His267=) http://identifiers.org/clinvar/387708 ^@ NM_052873.2(IFT43):c.269C>T (p.Thr90Met) http://identifiers.org/clinvar/377989 ^@ NM_001193466.1(KANSL1):c.1128T>A (p.Ile376=) http://identifiers.org/clinvar/391949 ^@ NM_013382.5(POMT2):c.1785+20C>T http://identifiers.org/clinvar/390289 ^@ NM_001127221.1(CACNA1A):c.5424C>T (p.Ala1808=) http://identifiers.org/clinvar/381280 ^@ NM_006612.5(KIF1C):c.1937+11G>T http://identifiers.org/clinvar/391061 ^@ NM_001127221.1(CACNA1A):c.5208C>T (p.His1736=) http://identifiers.org/clinvar/383678 ^@ NM_001127221.1(CACNA1A):c.5115C>T (p.Ile1705=) http://identifiers.org/clinvar/391239 ^@ NM_013382.5(POMT2):c.1726-15G>C http://identifiers.org/clinvar/393029 ^@ NM_001193466.1(KANSL1):c.1021C>T (p.Arg341Trp) http://identifiers.org/clinvar/390510 ^@ NM_006612.5(KIF1C):c.2105C>T (p.Thr702Ile) http://identifiers.org/clinvar/385068 ^@ NM_001193466.1(KANSL1):c.876T>G (p.Ala292=) http://identifiers.org/clinvar/390925 ^@ NM_006612.5(KIF1C):c.3071G>A (p.Arg1024Gln) http://identifiers.org/clinvar/385744 ^@ NM_013382.5(POMT2):c.1332+19T>G http://identifiers.org/clinvar/386382 ^@ NM_001127221.1(CACNA1A):c.4594-4G>A http://identifiers.org/clinvar/380489 ^@ NM_018896.4(CACNA1G):c.1556C>T (p.Pro519Leu) http://identifiers.org/clinvar/392157 ^@ NM_004863.3(SPTLC2):c.1603T>C (p.Leu535=) http://identifiers.org/clinvar/383823 ^@ NM_004863.3(SPTLC2):c.1440-5T>G http://identifiers.org/clinvar/387551 ^@ NM_001127221.1(CACNA1A):c.4594-9C>G http://identifiers.org/clinvar/384073 ^@ NM_001193466.1(KANSL1):c.702C>A (p.Val234=) http://identifiers.org/clinvar/380694 ^@ NM_004863.3(SPTLC2):c.1227G>A (p.Thr409=) http://identifiers.org/clinvar/381162 ^@ NM_004863.3(SPTLC2):c.963G>A (p.Glu321=) http://identifiers.org/clinvar/383945 ^@ NM_018896.4(CACNA1G):c.1741G>A (p.Gly581Ser) http://identifiers.org/clinvar/380972 ^@ NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) http://identifiers.org/clinvar/382272 ^@ NM_018896.4(CACNA1G):c.4778A>G (p.Tyr1593Cys) http://identifiers.org/clinvar/379728 ^@ NM_004863.3(SPTLC2):c.619C>A (p.Arg207=) http://identifiers.org/clinvar/388053 ^@ NM_001127221.1(CACNA1A):c.3992+11T>C http://identifiers.org/clinvar/384528 ^@ NM_001193466.1(KANSL1):c.635A>C (p.His212Pro) http://identifiers.org/clinvar/387679 ^@ NM_018896.4(CACNA1G):c.6340A>T (p.Ile2114Phe) http://identifiers.org/clinvar/384342 ^@ NM_001127221.1(CACNA1A):c.3826-3C>T http://identifiers.org/clinvar/386241 ^@ NM_001193466.1(KANSL1):c.620A>T (p.Asn207Ile) http://identifiers.org/clinvar/388015 ^@ NM_017777.3(MKS1):c.-41C>T http://identifiers.org/clinvar/379465 ^@ NM_058216.2(RAD51C):c.-42-6G>T http://identifiers.org/clinvar/385571 ^@ NM_001193466.1(KANSL1):c.619A>G (p.Asn207Asp) http://identifiers.org/clinvar/387528 ^@ NM_001127221.1(CACNA1A):c.3806C>T (p.Pro1269Leu) http://identifiers.org/clinvar/380382 ^@ NM_001193466.1(KANSL1):c.353A>G (p.Tyr118Cys) http://identifiers.org/clinvar/390158 ^@ NM_001127221.1(CACNA1A):c.3786C>T (p.Ala1262=) http://identifiers.org/clinvar/384535 ^@ NM_058216.2(RAD51C):c.-36A>G http://identifiers.org/clinvar/389940 ^@ NM_004863.3(SPTLC2):c.432C>T (p.Ala144=) http://identifiers.org/clinvar/380362 ^@ NM_001193466.1(KANSL1):c.266C>T (p.Ser89Phe) http://identifiers.org/clinvar/386941 ^@ NM_058216.2(RAD51C):c.-24C>A http://identifiers.org/clinvar/387224 ^@ NM_001127221.1(CACNA1A):c.3534C>G (p.Pro1178=) http://identifiers.org/clinvar/392195 ^@ NM_058216.2(RAD51C):c.905-7C>T http://identifiers.org/clinvar/381334 ^@ NM_000153.3(GALC):c.226G>A (p.Glu76Lys) http://identifiers.org/clinvar/383361 ^@ NM_058216.2(RAD51C):c.1008A>T (p.Thr336=) http://identifiers.org/clinvar/392347 ^@ NM_006329.3(FBLN5):c.1062C>T (p.Asp354=) http://identifiers.org/clinvar/377986 ^@ NM_001193466.1(KANSL1):c.-97G>T http://identifiers.org/clinvar/383396 ^@ NM_004239.4(TRIP11):c.5056+11C>T http://identifiers.org/clinvar/383912 ^@ NM_058216.2(RAD51C):c.1026+13T>C http://identifiers.org/clinvar/377927 ^@ NM_004287.4(GOSR2):c.-29C>T http://identifiers.org/clinvar/391247 ^@ NM_001127221.1(CACNA1A):c.3416A>G (p.Lys1139Arg) http://identifiers.org/clinvar/389934 ^@ NM_058216.2(RAD51C):c.1027-16A>G http://identifiers.org/clinvar/391877 ^@ NM_001127221.1(CACNA1A):c.3268G>T (p.Gly1090Cys) http://identifiers.org/clinvar/385136 ^@ NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) http://identifiers.org/clinvar/384795 ^@ NM_001127221.1(CACNA1A):c.3120G>T (p.Val1040=) http://identifiers.org/clinvar/379646 ^@ NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) http://identifiers.org/clinvar/379839 ^@ NM_004287.4(GOSR2):c.203+3A>G http://identifiers.org/clinvar/385960 ^@ NM_004239.4(TRIP11):c.3264A>G (p.Gln1088=) http://identifiers.org/clinvar/385394 ^@ NM_018129.3(PNPO):c.-38G>C http://identifiers.org/clinvar/383506 ^@ NM_016077.4(PTRH2):c.-37G>A http://identifiers.org/clinvar/389476 ^@ NM_016417.2(GLRX5):c.-16C>T http://identifiers.org/clinvar/385372 ^@ NM_001128159.2(VPS53):c.1218A>G (p.Gln406=) http://identifiers.org/clinvar/380925 ^@ NM_001128159.2(VPS53):c.1124T>G (p.Leu375Arg) http://identifiers.org/clinvar/378405 ^@ NM_018129.3(PNPO):c.777T>C (p.Leu259=) http://identifiers.org/clinvar/382968 ^@ NM_016417.2(GLRX5):c.198G>A (p.Gln66=) http://identifiers.org/clinvar/380910 ^@ NM_000080.3(CHRNE):c.918-14T>C http://identifiers.org/clinvar/385054 ^@ NM_001127221.1(CACNA1A):c.2898G>C (p.Gly966=) http://identifiers.org/clinvar/387404 ^@ NM_001127221.1(CACNA1A):c.2870G>A (p.Arg957Gln) http://identifiers.org/clinvar/385274 ^@ NM_001127221.1(CACNA1A):c.2829C>T (p.Ser943=) http://identifiers.org/clinvar/388417 ^@ NM_032043.2(BRIP1):c.*15C>G http://identifiers.org/clinvar/386170 ^@ NM_001127221.1(CACNA1A):c.2721G>A (p.Arg907=) http://identifiers.org/clinvar/389917 ^@ NM_001127221.1(CACNA1A):c.2403C>T (p.Asp801=) http://identifiers.org/clinvar/387303 ^@ NM_003384.2(VRK1):c.846T>C (p.Ile282=) http://identifiers.org/clinvar/387136 ^@ NM_053013.3(ENO3):c.78G>A (p.Thr26=) http://identifiers.org/clinvar/383273 ^@ NM_053013.3(ENO3):c.182-15C>T http://identifiers.org/clinvar/386873 ^@ NM_001127221.1(CACNA1A):c.2175+16G>A http://identifiers.org/clinvar/391347 ^@ NM_138576.3(BCL11B):c.289A>C (p.Ser97Arg) http://identifiers.org/clinvar/381415 ^@ NM_053013.3(ENO3):c.1236-17C>T http://identifiers.org/clinvar/386552 ^@ NM_001127221.1(CACNA1A):c.1198+16C>A http://identifiers.org/clinvar/384347 ^@ NM_006612.5(KIF1C):c.720+17C>G http://identifiers.org/clinvar/380931 ^@ NM_144599.4(NIPA1):c.21A>G (p.Ala7=) http://identifiers.org/clinvar/388469 ^@ NM_006612.5(KIF1C):c.1666+5T>C http://identifiers.org/clinvar/385354 ^@ NM_006612.5(KIF1C):c.1666+12G>C http://identifiers.org/clinvar/381799 ^@ NM_005664.3(MKRN3):c.1046G>T (p.Ser349Ile) http://identifiers.org/clinvar/389559 ^@ NM_000023.3(SGCA):c.-23C>T http://identifiers.org/clinvar/386141 ^@ NM_032043.2(BRIP1):c.3389T>C (p.Ile1130Thr) http://identifiers.org/clinvar/379245 ^@ NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) http://identifiers.org/clinvar/383766 ^@ NM_000088.3(COL1A1):c.4113G>A (p.Lys1371=) http://identifiers.org/clinvar/387020 ^@ NM_001127221.1(CACNA1A):c.1191A>G (p.Ser397=) http://identifiers.org/clinvar/384184 ^@ NM_032043.2(BRIP1):c.2576-19G>T http://identifiers.org/clinvar/387880 ^@ NM_001127221.1(CACNA1A):c.784+10C>T http://identifiers.org/clinvar/391229 ^@ NM_001127221.1(CACNA1A):c.546G>A (p.Leu182=) http://identifiers.org/clinvar/388770 ^@ NM_000088.3(COL1A1):c.1876-6G>A http://identifiers.org/clinvar/388459 ^@ NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) http://identifiers.org/clinvar/386114 ^@ NM_130838.1(UBE3A):c.2221-20A>G http://identifiers.org/clinvar/384513 ^@ NM_032043.2(BRIP1):c.2388A>G (p.Leu796=) http://identifiers.org/clinvar/393200 ^@ NM_000088.3(COL1A1):c.865C>T (p.Pro289Ser) http://identifiers.org/clinvar/379814 ^@ NM_130838.1(UBE3A):c.2220+17C>T http://identifiers.org/clinvar/382453 ^@ NM_032043.2(BRIP1):c.2386C>T (p.Leu796=) http://identifiers.org/clinvar/386394 ^@ NM_130838.1(UBE3A):c.2064+8A>G http://identifiers.org/clinvar/386667 ^@ NM_130838.1(UBE3A):c.879A>G (p.Leu293=) http://identifiers.org/clinvar/382888 ^@ NM_001127221.1(CACNA1A):c.539+9C>T http://identifiers.org/clinvar/390135 ^@ NM_000088.3(COL1A1):c.-43C>T http://identifiers.org/clinvar/379014 ^@ NM_032043.2(BRIP1):c.2379+7C>T http://identifiers.org/clinvar/392638 ^@ NM_032043.2(BRIP1):c.2258-19C>T http://identifiers.org/clinvar/388837 ^@ NM_130838.1(UBE3A):c.594C>T (p.Asp198=) http://identifiers.org/clinvar/385048 ^@ NM_001127221.1(CACNA1A):c.62C>T (p.Ala21Val) http://identifiers.org/clinvar/392915 ^@ NM_032043.2(BRIP1):c.1795-18A>G http://identifiers.org/clinvar/385688 ^@ NM_001127221.1(CACNA1A):c.-27A>G http://identifiers.org/clinvar/389676 ^@ NM_032043.2(BRIP1):c.1773T>C (p.Phe591=) http://identifiers.org/clinvar/391351 ^@ NM_032043.2(BRIP1):c.1628+20A>G http://identifiers.org/clinvar/382687 ^@ NM_000814.5(GABRB3):c.1158C>T (p.Gly386=) http://identifiers.org/clinvar/387193 ^@ NM_000814.5(GABRB3):c.1110A>G (p.Thr370=) http://identifiers.org/clinvar/383277 ^@ NM_024407.4(NDUFS7):c.54-20C>T http://identifiers.org/clinvar/380673 ^@ NM_024407.4(NDUFS7):c.54-5G>A http://identifiers.org/clinvar/389047 ^@ NM_024407.4(NDUFS7):c.108C>T (p.Thr36=) http://identifiers.org/clinvar/388793 ^@ NM_032043.2(BRIP1):c.1473+19C>T http://identifiers.org/clinvar/384055 ^@ NM_000814.5(GABRB3):c.1104G>C (p.Leu368=) http://identifiers.org/clinvar/385057 ^@ NM_006612.5(KIF1C):c.1751-7T>A http://identifiers.org/clinvar/380827 ^@ NM_006612.5(KIF1C):c.2748A>G (p.Pro916=) http://identifiers.org/clinvar/383362 ^@ NM_032043.2(BRIP1):c.1045G>A (p.Ala349Thr) http://identifiers.org/clinvar/386722 ^@ NM_000814.5(GABRB3):c.836-20C>T http://identifiers.org/clinvar/384663 ^@ NM_032043.2(BRIP1):c.690G>C (p.Ser230=) http://identifiers.org/clinvar/379463 ^@ NM_032043.2(BRIP1):c.507+20A>C http://identifiers.org/clinvar/382408 ^@ NM_024407.4(NDUFS7):c.483C>T (p.His161=) http://identifiers.org/clinvar/387126 ^@ NM_018896.4(CACNA1G):c.77C>G (p.Ser26Trp) http://identifiers.org/clinvar/377588 ^@ NM_032043.2(BRIP1):c.205+16A>G http://identifiers.org/clinvar/389457 ^@ NM_018896.4(CACNA1G):c.3053A>C (p.Lys1018Thr) http://identifiers.org/clinvar/392423 ^@ NM_032043.2(BRIP1):c.94-20A>G http://identifiers.org/clinvar/393256 ^@ NM_000814.5(GABRB3):c.695G>A (p.Arg232Gln) http://identifiers.org/clinvar/380976 ^@ NM_000156.5(GAMT):c.*17G>A http://identifiers.org/clinvar/380323 ^@ NM_032043.2(BRIP1):c.-5G>A http://identifiers.org/clinvar/379976 ^@ NM_133644.3(GTPBP3):c.302-17C>G http://identifiers.org/clinvar/388647 ^@ NM_133644.3(GTPBP3):c.444C>T (p.Phe148=) http://identifiers.org/clinvar/387680 ^@ NM_018896.4(CACNA1G):c.4834T>C (p.Tyr1612His) http://identifiers.org/clinvar/382858 ^@ NM_018896.4(CACNA1G):c.6902G>A (p.Arg2301Gln) http://identifiers.org/clinvar/391579 ^@ NM_006852.3(TLK2):c.832T>C (p.Ser278Pro) http://identifiers.org/clinvar/382825 ^@ NM_000814.5(GABRB3):c.682+20A>G http://identifiers.org/clinvar/391054 ^@ NM_001128159.2(VPS53):c.2397G>A (p.Ser799=) http://identifiers.org/clinvar/389199 ^@ NM_133644.3(GTPBP3):c.603C>T (p.His201=) http://identifiers.org/clinvar/379977 ^@ NM_133644.3(GTPBP3):c.845T>C (p.Val282Ala) http://identifiers.org/clinvar/380895 ^@ NM_001128159.2(VPS53):c.2184C>T (p.Ile728=) http://identifiers.org/clinvar/392259 ^@ NM_000814.5(GABRB3):c.154C>T (p.Leu52=) http://identifiers.org/clinvar/385373 ^@ NM_001128159.2(VPS53):c.2130C>G (p.Leu710=) http://identifiers.org/clinvar/387765 ^@ NM_133644.3(GTPBP3):c.*6T>C http://identifiers.org/clinvar/385478 ^@ NM_000334.4(SCN4A):c.3774+7C>T http://identifiers.org/clinvar/381596 ^@ NM_000814.5(GABRB3):c.81-3C>T http://identifiers.org/clinvar/385909 ^@ NM_001128159.2(VPS53):c.2046C>T (p.Leu682=) http://identifiers.org/clinvar/382870 ^@ NM_000814.5(GABRB3):c.81-11C>T http://identifiers.org/clinvar/384309 ^@ NM_001128159.2(VPS53):c.1416C>T (p.Ala472=) http://identifiers.org/clinvar/387302 ^@ NM_017777.3(MKS1):c.1128G>A (p.Thr376=) http://identifiers.org/clinvar/379978 ^@ NM_133644.3(GTPBP3):c.*15G>T http://identifiers.org/clinvar/383410 ^@ NM_000814.5(GABRB3):c.-23C>G http://identifiers.org/clinvar/380847 ^@ NM_017777.3(MKS1):c.993C>T (p.Tyr331=) http://identifiers.org/clinvar/377904 ^@ NM_000814.5(GABRB3):c.-688C>T http://identifiers.org/clinvar/378456 ^@ NM_058216.2(RAD51C):c.-41T>A http://identifiers.org/clinvar/379144 ^@ NM_058216.2(RAD51C):c.-29C>T http://identifiers.org/clinvar/390524 ^@ NM_000334.4(SCN4A):c.612-18C>A http://identifiers.org/clinvar/390124 ^@ NM_133647.1(SLC12A6):c.2935-7A>G http://identifiers.org/clinvar/387888 ^@ NM_133647.1(SLC12A6):c.543+8C>G http://identifiers.org/clinvar/390763 ^@ NM_133647.1(SLC12A6):c.316+8A>T http://identifiers.org/clinvar/382604 ^@ NM_133644.3(GTPBP3):c.*18G>A http://identifiers.org/clinvar/385254 ^@ NM_058216.2(RAD51C):c.-28T>G http://identifiers.org/clinvar/385188 ^@ NM_000215.3(JAK3):c.1131C>T (p.His377=) http://identifiers.org/clinvar/381656 ^@ NM_000095.2(COMP):c.1112G>A (p.Cys371Tyr) http://identifiers.org/clinvar/390710 ^@ NM_058216.2(RAD51C):c.102T>G (p.Thr34=) http://identifiers.org/clinvar/389916 ^@ NM_058216.2(RAD51C):c.207C>T (p.Leu69=) http://identifiers.org/clinvar/379592 ^@ NM_058216.2(RAD51C):c.706-13C>G http://identifiers.org/clinvar/391898 ^@ NM_005159.4(ACTC1):c.431T>G (p.Leu144Arg) http://identifiers.org/clinvar/385603 ^@ NM_058216.2(RAD51C):c.706-6A>G http://identifiers.org/clinvar/391711 ^@ NM_000095.2(COMP):c.867+15A>G http://identifiers.org/clinvar/388864 ^@ NM_001037.4(SCN1B):c.207+10T>C http://identifiers.org/clinvar/379043 ^@ NM_005159.4(ACTC1):c.399C>T (p.Ala133=) http://identifiers.org/clinvar/389657 ^@ NM_005159.4(ACTC1):c.328G>A (p.Ala110Thr) http://identifiers.org/clinvar/377435 ^@ NM_005159.4(ACTC1):c.309C>A (p.His103Gln) http://identifiers.org/clinvar/381187 ^@ NM_001013703.3(EIF2AK4):c.*16G>A http://identifiers.org/clinvar/393242 ^@ NM_001037.4(SCN1B):c.405C>G (p.Asn135Lys) http://identifiers.org/clinvar/390479 ^@ NM_058216.2(RAD51C):c.838-15A>G http://identifiers.org/clinvar/390588 ^@ NM_130468.3(CHST14):c.-5G>A http://identifiers.org/clinvar/383447 ^@ NM_001037.4(SCN1B):c.448+278G>A http://identifiers.org/clinvar/385979 ^@ NM_001037.4(SCN1B):c.471C>T (p.Ile157=) http://identifiers.org/clinvar/389253 ^@ NM_001172630.1(ARHGAP33):c.421+5T>C http://identifiers.org/clinvar/392914 ^@ NM_004646.3(NPHS1):c.3455C>T (p.Thr1152Met) http://identifiers.org/clinvar/388828 ^@ NM_014336.4(AIPL1):c.796G>T (p.Ala266Ser) http://identifiers.org/clinvar/392385 ^@ NM_000070.2(CAPN3):c.1115+2T>C http://identifiers.org/clinvar/392130 ^@ NM_007215.3(POLG2):c.-35T>C http://identifiers.org/clinvar/380924 ^@ NM_001128159.2(VPS53):c.1117-3C>T http://identifiers.org/clinvar/381074 ^@ NM_001042631.2(SDHAF1):c.-37C>T http://identifiers.org/clinvar/385118 ^@ NM_004655.3(AXIN2):c.2430T>C (p.Asp810=) http://identifiers.org/clinvar/381348 ^@ NM_004655.3(AXIN2):c.2238-15C>T http://identifiers.org/clinvar/391937 ^@ NM_032043.2(BRIP1):c.*13C>T http://identifiers.org/clinvar/379711 ^@ NM_004655.3(AXIN2):c.1986G>A (p.Leu662=) http://identifiers.org/clinvar/386646 ^@ NM_032043.2(BRIP1):c.3552A>G (p.Glu1184=) http://identifiers.org/clinvar/390603 ^@ NM_174916.2(UBR1):c.677A>C (p.Tyr226Ser) http://identifiers.org/clinvar/383183 ^@ NM_032043.2(BRIP1):c.2767C>T (p.Leu923=) http://identifiers.org/clinvar/388887 ^@ NM_001042631.2(SDHAF1):c.309C>T (p.Asp103=) http://identifiers.org/clinvar/391508 ^@ NM_032043.2(BRIP1):c.2568T>C (p.Tyr856=) http://identifiers.org/clinvar/382897 ^@ NM_001083961.1(WDR62):c.269+19C>T http://identifiers.org/clinvar/388811 ^@ NM_153700.2(STRC):c.4845C>T (p.Ser1615=) http://identifiers.org/clinvar/378960 ^@ NM_032043.2(BRIP1):c.2322C>T (p.Asp774=) http://identifiers.org/clinvar/383955 ^@ NM_032043.2(BRIP1):c.2193A>G (p.Glu731=) http://identifiers.org/clinvar/382839 ^@ NM_004655.3(AXIN2):c.1887G>A (p.Gln629=) http://identifiers.org/clinvar/388180 ^@ NM_001083961.1(WDR62):c.700-15C>A http://identifiers.org/clinvar/377546 ^@ NM_004655.3(AXIN2):c.1491C>T (p.Cys497=) http://identifiers.org/clinvar/389924 ^@ NM_001083961.1(WDR62):c.1752C>T (p.Thr584=) http://identifiers.org/clinvar/391841 ^@ NM_025137.3(SPG11):c.3453+5A>G http://identifiers.org/clinvar/387040 ^@ NM_004655.3(AXIN2):c.1482G>T (p.Pro494=) http://identifiers.org/clinvar/385268 ^@ NM_001083961.1(WDR62):c.2739+16G>A http://identifiers.org/clinvar/379013 ^@ NM_032043.2(BRIP1):c.2098-3T>C http://identifiers.org/clinvar/390546 ^@ NM_001083961.1(WDR62):c.3480G>A (p.Lys1160=) http://identifiers.org/clinvar/386850 ^@ NM_032043.2(BRIP1):c.1628+18G>A http://identifiers.org/clinvar/386401 ^@ NM_001083961.1(WDR62):c.3702C>T (p.Leu1234=) http://identifiers.org/clinvar/392505 ^@ NM_000540.2(RYR1):c.2411C>T (p.Pro804Leu) http://identifiers.org/clinvar/386681 ^@ NM_025137.3(SPG11):c.257+17A>G http://identifiers.org/clinvar/392662 ^@ NM_014080.4(DUOX2):c.2564C>T (p.Ser855Phe) http://identifiers.org/clinvar/388722 ^@ NM_032043.2(BRIP1):c.1506A>G (p.Glu502=) http://identifiers.org/clinvar/391938 ^@ NM_004655.3(AXIN2):c.1275A>G (p.Leu425=) http://identifiers.org/clinvar/391770 ^@ NM_000540.2(RYR1):c.2544C>T (p.Thr848=) http://identifiers.org/clinvar/382493 ^@ NM_000540.2(RYR1):c.3381+5G>A http://identifiers.org/clinvar/380744 ^@ NM_001482.2(GATM):c.1159+19A>G http://identifiers.org/clinvar/380265 ^@ NM_004655.3(AXIN2):c.1201-7C>T http://identifiers.org/clinvar/389740 ^@ NM_032043.2(BRIP1):c.1380T>C (p.Asp460=) http://identifiers.org/clinvar/382697 ^@ NM_000540.2(RYR1):c.5132A>C (p.Tyr1711Ser) http://identifiers.org/clinvar/387568 ^@ NM_000540.2(RYR1):c.5439G>A (p.Arg1813=) http://identifiers.org/clinvar/387885 ^@ NM_000540.2(RYR1):c.6561C>T (p.Asn2187=) http://identifiers.org/clinvar/391772 ^@ NM_000540.2(RYR1):c.7740C>T (p.Asp2580=) http://identifiers.org/clinvar/379799 ^@ NM_004655.3(AXIN2):c.1060-10C>T http://identifiers.org/clinvar/386010 ^@ NM_032043.2(BRIP1):c.750A>G (p.Thr250=) http://identifiers.org/clinvar/393262 ^@ NM_000540.2(RYR1):c.7835+1G>A http://identifiers.org/clinvar/379597 ^@ NM_032043.2(BRIP1):c.507+19C>T http://identifiers.org/clinvar/382159 ^@ NM_004655.3(AXIN2):c.984C>T (p.Gly328=) http://identifiers.org/clinvar/388439 ^@ NM_001482.2(GATM):c.963C>T (p.Asp321=) http://identifiers.org/clinvar/384281 ^@ NM_001482.2(GATM):c.408G>A (p.Thr136=) http://identifiers.org/clinvar/386860 ^@ NM_001482.2(GATM):c.330A>C (p.Gln110His) http://identifiers.org/clinvar/387813 ^@ NM_000540.2(RYR1):c.7851G>A (p.Ser2617=) http://identifiers.org/clinvar/385109 ^@ NM_032043.2(BRIP1):c.507+11T>G http://identifiers.org/clinvar/382894 ^@ NM_000540.2(RYR1):c.8067+13G>A http://identifiers.org/clinvar/390787 ^@ NM_000540.2(RYR1):c.8816+16C>T http://identifiers.org/clinvar/390319 ^@ NM_000540.2(RYR1):c.9554+8G>A http://identifiers.org/clinvar/377589 ^@ NM_032043.2(BRIP1):c.379+8A>C http://identifiers.org/clinvar/392293 ^@ NM_032043.2(BRIP1):c.240T>G (p.Ala80=) http://identifiers.org/clinvar/385507 ^@ NM_001482.2(GATM):c.-13C>T http://identifiers.org/clinvar/383217 ^@ NM_000540.2(RYR1):c.10019-13C>T http://identifiers.org/clinvar/388481 ^@ NM_000138.4(FBN1):c.5788+14A>G http://identifiers.org/clinvar/387028 ^@ NM_000540.2(RYR1):c.12984G>A (p.Ala4328=) http://identifiers.org/clinvar/379371 ^@ NM_000540.2(RYR1):c.13190C>G (p.Ala4397Gly) http://identifiers.org/clinvar/379270 ^@ NM_004655.3(AXIN2):c.894C>T (p.Asn298=) http://identifiers.org/clinvar/381610 ^@ NM_000138.4(FBN1):c.5680G>A (p.Glu1894Lys) http://identifiers.org/clinvar/392910 ^@ NM_000138.4(FBN1):c.5285G>T (p.Gly1762Val) http://identifiers.org/clinvar/384904 ^@ NM_000138.4(FBN1):c.3903C>T (p.Gly1301=) http://identifiers.org/clinvar/377541 ^@ NM_004655.3(AXIN2):c.816-17T>C http://identifiers.org/clinvar/391676 ^@ NM_004655.3(AXIN2):c.681C>T (p.Thr227=) http://identifiers.org/clinvar/379719 ^@ NM_000540.2(RYR1):c.14495C>A (p.Thr4832Asn) http://identifiers.org/clinvar/378955 ^@ NM_004655.3(AXIN2):c.672T>C (p.Tyr224=) http://identifiers.org/clinvar/388984 ^@ NM_032043.2(BRIP1):c.30T>C (p.Ile10=) http://identifiers.org/clinvar/386019 ^@ NM_000138.4(FBN1):c.3162G>A (p.Arg1054=) http://identifiers.org/clinvar/392912 ^@ NM_004924.5(ACTN4):c.738C>G (p.Ile246Met) http://identifiers.org/clinvar/380906 ^@ NM_001128159.2(VPS53):c.982C>A (p.Leu328Ile) http://identifiers.org/clinvar/390615 ^@ NM_004655.3(AXIN2):c.600G>C (p.Val200=) http://identifiers.org/clinvar/390855 ^@ NM_000138.4(FBN1):c.2793G>T (p.Gly931=) http://identifiers.org/clinvar/383937 ^@ NM_004655.3(AXIN2):c.540G>A (p.Ser180=) http://identifiers.org/clinvar/389343 ^@ NM_000138.4(FBN1):c.2723G>C (p.Cys908Ser) http://identifiers.org/clinvar/385258 ^@ NM_004655.3(AXIN2):c.30C>A (p.Leu10=) http://identifiers.org/clinvar/386779 ^@ NM_004655.3(AXIN2):c.-116-20C>T http://identifiers.org/clinvar/382318 ^@ NM_004655.3(AXIN2):c.-130C>T http://identifiers.org/clinvar/384231 ^@ NM_017827.3(SARS2):c.636C>T (p.Leu212=) http://identifiers.org/clinvar/389690 ^@ NM_001128159.2(VPS53):c.688-3T>C http://identifiers.org/clinvar/384138 ^@ NM_177550.4(SLC13A5):c.1629T>C (p.Ala543=) http://identifiers.org/clinvar/384844 ^@ NM_177550.4(SLC13A5):c.1395C>T (p.Asn465=) http://identifiers.org/clinvar/378497 ^@ NM_017827.3(SARS2):c.576C>T (p.Val192=) http://identifiers.org/clinvar/392716 ^@ NM_016941.3(DLL3):c.309G>A (p.Leu103=) http://identifiers.org/clinvar/387785 ^@ NM_000138.4(FBN1):c.2540-13C>T http://identifiers.org/clinvar/379576 ^@ NM_000138.4(FBN1):c.2187A>C (p.Leu729=) http://identifiers.org/clinvar/388290 ^@ NM_000789.3(ACE):c.1052C>T (p.Pro351Leu) http://identifiers.org/clinvar/380942 ^@ NM_177550.4(SLC13A5):c.1101A>G (p.Leu367=) http://identifiers.org/clinvar/389411 ^@ NM_016360.3(TACO1):c.819G>A (p.Leu273=) http://identifiers.org/clinvar/385424 ^@ NM_016360.3(TACO1):c.885C>T (p.Asn295=) http://identifiers.org/clinvar/393192 ^@ NM_177550.4(SLC13A5):c.889G>A (p.Ala297Thr) http://identifiers.org/clinvar/386963 ^@ NM_000334.4(SCN4A):c.5277C>T (p.Asp1759=) http://identifiers.org/clinvar/385479 ^@ NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) http://identifiers.org/clinvar/386905 ^@ NM_000138.4(FBN1):c.1960+17G>A http://identifiers.org/clinvar/385275 ^@ NM_177550.4(SLC13A5):c.716+15G>A http://identifiers.org/clinvar/391561 ^@ NM_181882.2(PRX):c.3831C>G (p.Pro1277=) http://identifiers.org/clinvar/386663 ^@ NM_181882.2(PRX):c.2832T>C (p.Ala944=) http://identifiers.org/clinvar/385991 ^@ NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) http://identifiers.org/clinvar/388340 ^@ NM_181882.2(PRX):c.2164A>G (p.Met722Val) http://identifiers.org/clinvar/383606 ^@ NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) http://identifiers.org/clinvar/377859 ^@ NM_000138.4(FBN1):c.1838-6C>T http://identifiers.org/clinvar/391182 ^@ NM_177550.4(SLC13A5):c.690C>T (p.Asn230=) http://identifiers.org/clinvar/379671 ^@ NM_181882.2(PRX):c.540G>A (p.Pro180=) http://identifiers.org/clinvar/391923 ^@ NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu) http://identifiers.org/clinvar/377856 ^@ NM_000138.4(FBN1):c.273T>C (p.Asp91=) http://identifiers.org/clinvar/391630 ^@ NM_003573.2(LTBP4):c.1082-11G>C http://identifiers.org/clinvar/385359 ^@ NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) http://identifiers.org/clinvar/388606 ^@ NM_177550.4(SLC13A5):c.582G>A (p.Gly194=) http://identifiers.org/clinvar/383600 ^@ NM_177550.4(SLC13A5):c.459G>A (p.Glu153=) http://identifiers.org/clinvar/393072 ^@ NM_003573.2(LTBP4):c.4108C>G (p.Pro1370Ala) http://identifiers.org/clinvar/392998 ^@ NM_000138.4(FBN1):c.60C>A (p.Tyr20Ter) http://identifiers.org/clinvar/382737 ^@ NM_177550.4(SLC13A5):c.369-14C>T http://identifiers.org/clinvar/385381 ^@ NM_000138.4(FBN1):c.27C>T (p.Ile9=) http://identifiers.org/clinvar/386263 ^@ NM_177550.4(SLC13A5):c.232-11C>T http://identifiers.org/clinvar/392646 ^@ NM_024876.3(COQ8B):c.1209G>A (p.Glu403=) http://identifiers.org/clinvar/390536 ^@ NM_177550.4(SLC13A5):c.232-15C>T http://identifiers.org/clinvar/383354 ^@ NM_177550.4(SLC13A5):c.201C>T (p.Phe67=) http://identifiers.org/clinvar/391659 ^@ NM_004655.3(AXIN2):c.2112A>T (p.Leu704=) http://identifiers.org/clinvar/385697 ^@ NM_177550.4(SLC13A5):c.90G>T (p.Leu30=) http://identifiers.org/clinvar/390037 ^@ NM_177550.4(SLC13A5):c.18C>T (p.Ser6=) http://identifiers.org/clinvar/388544 ^@ NM_004655.3(AXIN2):c.2079G>A (p.Thr693=) http://identifiers.org/clinvar/393100 ^@ NM_004655.3(AXIN2):c.2064G>A (p.Leu688=) http://identifiers.org/clinvar/378429 ^@ NM_002734.4(PRKAR1A):c.440+15T>C http://identifiers.org/clinvar/379923 ^@ NM_002734.4(PRKAR1A):c.535C>T (p.Gln179Ter) http://identifiers.org/clinvar/389790 ^@ NM_007347.4(AP4E1):c.2258T>C (p.Val753Ala) http://identifiers.org/clinvar/384023 ^@ NM_001018005.1(TPM1):c.*5267C>T http://identifiers.org/clinvar/388422 ^@ NM_024876.3(COQ8B):c.1206C>T (p.Ile402=) http://identifiers.org/clinvar/387181 ^@ NM_004655.3(AXIN2):c.1816C>T (p.Leu606=) http://identifiers.org/clinvar/382505 ^@ NM_000891.2(KCNJ2):c.513C>T (p.Ile171=) http://identifiers.org/clinvar/386509 ^@ NM_139242.3(MTFMT):c.645+19C>G http://identifiers.org/clinvar/391532 ^@ NM_000891.2(KCNJ2):c.774C>T (p.Ile258=) http://identifiers.org/clinvar/380101 ^@ NM_024876.3(COQ8B):c.1055C>G (p.Thr352Arg) http://identifiers.org/clinvar/388466 ^@ NM_004655.3(AXIN2):c.1758G>A (p.Thr586=) http://identifiers.org/clinvar/386504 ^@ NM_004655.3(AXIN2):c.1149G>C (p.Leu383=) http://identifiers.org/clinvar/380894 ^@ NM_001128159.2(VPS53):c.81C>T (p.Ile27=) http://identifiers.org/clinvar/390848 ^@ NM_001128159.2(VPS53):c.69G>T (p.Val23=) http://identifiers.org/clinvar/382076 ^@ NM_139242.3(MTFMT):c.375G>A (p.Ser125=) http://identifiers.org/clinvar/391034 ^@ NM_139242.3(MTFMT):c.318C>T (p.Pro106=) http://identifiers.org/clinvar/379941 ^@ NM_024876.3(COQ8B):c.1035+7T>C http://identifiers.org/clinvar/389836 ^@ NM_001101362.2(KBTBD13):c.-17C>T http://identifiers.org/clinvar/379940 ^@ NM_024876.3(COQ8B):c.768G>A (p.Ala256=) http://identifiers.org/clinvar/378957 ^@ NM_004655.3(AXIN2):c.1020T>C (p.Ser340=) http://identifiers.org/clinvar/390071 ^@ NM_024876.3(COQ8B):c.534G>A (p.Arg178=) http://identifiers.org/clinvar/381932 ^@ NM_004655.3(AXIN2):c.956+19C>A http://identifiers.org/clinvar/387272 ^@ NM_000346.3(SOX9):c.480G>A (p.Arg160=) http://identifiers.org/clinvar/380045 ^@ NM_024876.3(COQ8B):c.9G>A (p.Leu3=) http://identifiers.org/clinvar/393161 ^@ NM_001101362.2(KBTBD13):c.197G>A (p.Arg66His) http://identifiers.org/clinvar/383208 ^@ NM_030662.3(MAP2K2):c.*2A>T http://identifiers.org/clinvar/388631 ^@ NM_030662.3(MAP2K2):c.581-20C>T http://identifiers.org/clinvar/391344 ^@ NM_000346.3(SOX9):c.1193A>G (p.Lys398Arg) http://identifiers.org/clinvar/380058 ^@ NM_000018.3(ACADVL):c.1182+17C>A http://identifiers.org/clinvar/385885 ^@ NM_004655.3(AXIN2):c.204G>C (p.Arg68=) http://identifiers.org/clinvar/388745 ^@ NM_000018.3(ACADVL):c.1569A>G (p.Gly523=) http://identifiers.org/clinvar/384908 ^@ NM_002755.3(MAP2K1):c.439-18T>C http://identifiers.org/clinvar/383320 ^@ NM_000747.2(CHRNB1):c.1044+20C>T http://identifiers.org/clinvar/392551 ^@ NM_030662.3(MAP2K2):c.475C>G (p.Leu159Val) http://identifiers.org/clinvar/383807 ^@ NM_000660.6(TGFB1):c.897C>G (p.Tyr299Ter) http://identifiers.org/clinvar/386929 ^@ NM_015971.3(MRPS7):c.84-8C>T http://identifiers.org/clinvar/382702 ^@ NM_004655.3(AXIN2):c.-21A>C http://identifiers.org/clinvar/382643 ^@ NM_015971.3(MRPS7):c.508-10T>C http://identifiers.org/clinvar/386052 ^@ NM_000709.3(BCKDHA):c.-28C>G http://identifiers.org/clinvar/382383 ^@ NM_000709.3(BCKDHA):c.117C>A (p.Pro39=) http://identifiers.org/clinvar/380658 ^@ NM_002755.3(MAP2K1):c.517-4C>T http://identifiers.org/clinvar/384178 ^@ NM_177550.4(SLC13A5):c.1584A>G (p.Thr528=) http://identifiers.org/clinvar/390295 ^@ NM_177550.4(SLC13A5):c.1438-4G>A http://identifiers.org/clinvar/378874 ^@ NM_002755.3(MAP2K1):c.834G>A (p.Gln278=) http://identifiers.org/clinvar/382372 ^@ NM_015971.3(MRPS7):c.645C>T (p.Asn215=) http://identifiers.org/clinvar/386706 ^@ NM_000709.3(BCKDHA):c.807C>T (p.Tyr269=) http://identifiers.org/clinvar/393145 ^@ NM_002755.3(MAP2K1):c.984A>C (p.Gly328=) http://identifiers.org/clinvar/382233 ^@ NM_021734.4(SLC25A19):c.460-14G>A http://identifiers.org/clinvar/382610 ^@ NM_004870.3(MPDU1):c.-34G>A http://identifiers.org/clinvar/390051 ^@ NM_000709.3(BCKDHA):c.1055A>G (p.Asn352Ser) http://identifiers.org/clinvar/389554 ^@ NM_000546.5(TP53):c.1065T>C (p.Ala355=) http://identifiers.org/clinvar/390133 ^@ NM_005902.3(SMAD3):c.207-11C>T http://identifiers.org/clinvar/385783 ^@ NM_000546.5(TP53):c.994-12C>T http://identifiers.org/clinvar/378621 ^@ NM_005902.3(SMAD3):c.441G>A (p.Pro147=) http://identifiers.org/clinvar/387427 ^@ NM_152296.4(ATP1A3):c.2896G>A (p.Val966Met) http://identifiers.org/clinvar/383254 ^@ NM_177550.4(SLC13A5):c.1156+9C>T http://identifiers.org/clinvar/384291 ^@ NM_001080510.4(METTL23):c.407+1G>C http://identifiers.org/clinvar/391390 ^@ NM_152296.4(ATP1A3):c.2689-3C>A http://identifiers.org/clinvar/389260 ^@ NM_005902.3(SMAD3):c.501C>T (p.Pro167=) http://identifiers.org/clinvar/386206 ^@ NM_152296.4(ATP1A3):c.2183G>A (p.Gly728Asp) http://identifiers.org/clinvar/393257 ^@ NM_177550.4(SLC13A5):c.714C>T (p.Asn238=) http://identifiers.org/clinvar/377531 ^@ NM_152296.4(ATP1A3):c.1387C>T (p.Arg463Cys) http://identifiers.org/clinvar/390352 ^@ NM_177550.4(SLC13A5):c.504C>T (p.Ala168=) http://identifiers.org/clinvar/390771 ^@ NM_005902.3(SMAD3):c.510C>T (p.Ile170=) http://identifiers.org/clinvar/388807 ^@ NM_152296.4(ATP1A3):c.756C>T (p.Gly252=) http://identifiers.org/clinvar/393281 ^@ NM_005357.3(LIPE):c.998G>A (p.Arg333Gln) http://identifiers.org/clinvar/379605 ^@ NM_014297.4(ETHE1):c.378G>A (p.Ala126=) http://identifiers.org/clinvar/383441 ^@ NM_177550.4(SLC13A5):c.369-17C>T http://identifiers.org/clinvar/391534 ^@ NM_005902.3(SMAD3):c.814G>C (p.Gly272Arg) http://identifiers.org/clinvar/387834 ^@ NM_177550.4(SLC13A5):c.232-14G>A http://identifiers.org/clinvar/384980 ^@ NM_014297.4(ETHE1):c.375+19C>A http://identifiers.org/clinvar/383664 ^@ NM_177550.4(SLC13A5):c.231+6C>A http://identifiers.org/clinvar/393069 ^@ NM_005902.3(SMAD3):c.956A>G (p.Asn319Ser) http://identifiers.org/clinvar/387119 ^@ NM_000546.5(TP53):c.933C>T (p.Asn311=) http://identifiers.org/clinvar/385509 ^@ NM_177550.4(SLC13A5):c.144C>T (p.Tyr48=) http://identifiers.org/clinvar/389164 ^@ NM_000546.5(TP53):c.831T>C (p.Cys277=) http://identifiers.org/clinvar/383326 ^@ NM_005619.4(RTN2):c.51A>G (p.Thr17=) http://identifiers.org/clinvar/384955 ^@ NM_017882.2(CLN6):c.873G>A (p.Pro291=) http://identifiers.org/clinvar/385614 ^@ NM_000546.5(TP53):c.717C>G (p.Asn239Lys) http://identifiers.org/clinvar/387858 ^@ NM_024301.4(FKRP):c.-39-16C>T http://identifiers.org/clinvar/378004 ^@ NM_000891.2(KCNJ2):c.51C>T (p.Asp17=) http://identifiers.org/clinvar/377695 ^@ NM_017882.2(CLN6):c.477G>A (p.Pro159=) http://identifiers.org/clinvar/383397 ^@ NM_000546.5(TP53):c.672+15T>G http://identifiers.org/clinvar/379312 ^@ NM_017882.2(CLN6):c.167G>A (p.Trp56Ter) http://identifiers.org/clinvar/383385 ^@ NM_000546.5(TP53):c.376-19C>T http://identifiers.org/clinvar/377694 ^@ NM_017882.2(CLN6):c.135C>T (p.Leu45=) http://identifiers.org/clinvar/391353 ^@ NM_024301.4(FKRP):c.-39-15G>A http://identifiers.org/clinvar/380385 ^@ NM_000546.5(TP53):c.97-11C>T http://identifiers.org/clinvar/378005 ^@ NM_000891.2(KCNJ2):c.867C>T (p.Asn289=) http://identifiers.org/clinvar/378006 ^@ NM_000891.2(KCNJ2):c.1044C>T (p.Tyr348=) http://identifiers.org/clinvar/379887 ^@ NM_024301.4(FKRP):c.264C>A (p.Tyr88Ter) http://identifiers.org/clinvar/380424 ^@ NM_017882.2(CLN6):c.89G>C (p.Gly30Ala) http://identifiers.org/clinvar/389094 ^@ NM_017882.2(CLN6):c.-29G>T http://identifiers.org/clinvar/392555 ^@ NM_024301.4(FKRP):c.399G>T (p.Ala133=) http://identifiers.org/clinvar/379311 ^@ NM_000520.5(HEXA):c.155C>A (p.Ser52Ter) http://identifiers.org/clinvar/382170 ^@ NM_005477.2(HCN4):c.3531G>T (p.Gly1177=) http://identifiers.org/clinvar/391769 ^@ NM_024301.4(FKRP):c.511C>G (p.Leu171Val) http://identifiers.org/clinvar/386889 ^@ NM_024301.4(FKRP):c.1405C>T (p.Leu469=) http://identifiers.org/clinvar/382997 ^@ NM_002103.4(GYS1):c.813G>A (p.Lys271=) http://identifiers.org/clinvar/381197 ^@ NM_017636.3(TRPM4):c.1151-20T>A http://identifiers.org/clinvar/392266 ^@ NM_000546.5(TP53):c.97-17T>C http://identifiers.org/clinvar/390839 ^@ NM_000891.2(KCNJ2):c.*20G>T http://identifiers.org/clinvar/380318 ^@ NM_000546.5(TP53):c.75-14C>T http://identifiers.org/clinvar/384049 ^@ NM_005477.2(HCN4):c.3327A>G (p.Ser1109=) http://identifiers.org/clinvar/381978 ^@ NM_000346.3(SOX9):c.948G>A (p.Thr316=) http://identifiers.org/clinvar/385958 ^@ NM_005477.2(HCN4):c.3171A>C (p.Ala1057=) http://identifiers.org/clinvar/392641 ^@ NM_018081.2(WRAP53):c.1226G>T (p.Arg409Leu) http://identifiers.org/clinvar/382800 ^@ NM_000152.4(GAA):c.-32-4G>A http://identifiers.org/clinvar/389667 ^@ NM_017636.3(TRPM4):c.1803C>G (p.Arg601=) http://identifiers.org/clinvar/384029 ^@ NM_005477.2(HCN4):c.3078C>T (p.Ser1026=) http://identifiers.org/clinvar/392319 ^@ NM_005477.2(HCN4):c.3031T>C (p.Ser1011Pro) http://identifiers.org/clinvar/388598 ^@ NM_000152.4(GAA):c.834G>A (p.Leu278=) http://identifiers.org/clinvar/387331 ^@ NM_017636.3(TRPM4):c.1873+13C>G http://identifiers.org/clinvar/381691 ^@ NM_017636.3(TRPM4):c.2561A>G (p.Gln854Arg) http://identifiers.org/clinvar/391911 ^@ NM_005477.2(HCN4):c.2875C>G (p.Leu959Val) http://identifiers.org/clinvar/388739 ^@ NM_005477.2(HCN4):c.2508G>A (p.Ala836=) http://identifiers.org/clinvar/388142 ^@ NM_000018.3(ACADVL):c.138+10C>G http://identifiers.org/clinvar/383030 ^@ NM_000152.4(GAA):c.2041-17C>T http://identifiers.org/clinvar/382517 ^@ NM_030973.3(MED25):c.526-16G>A http://identifiers.org/clinvar/389733 ^@ NM_000018.3(ACADVL):c.477+12C>G http://identifiers.org/clinvar/384066 ^@ NM_000152.4(GAA):c.2736G>A (p.Ala912=) http://identifiers.org/clinvar/386274 ^@ NM_000018.3(ACADVL):c.477+17G>A http://identifiers.org/clinvar/381685 ^@ NM_000199.3(SGSH):c.130G>A (p.Ala44Thr) http://identifiers.org/clinvar/379406 ^@ NM_001614.3(ACTG1):c.*18G>A http://identifiers.org/clinvar/384765 ^@ NM_001614.3(ACTG1):c.1053C>T (p.Thr351=) http://identifiers.org/clinvar/386658 ^@ NM_001614.3(ACTG1):c.666C>T (p.Asp222=) http://identifiers.org/clinvar/386405 ^@ NM_005477.2(HCN4):c.1978+8A>G http://identifiers.org/clinvar/389672 ^@ NM_000018.3(ACADVL):c.1146G>C (p.Lys382Asn) http://identifiers.org/clinvar/389588 ^@ NM_005477.2(HCN4):c.1812G>A (p.Val604=) http://identifiers.org/clinvar/379995 ^@ NM_015971.3(MRPS7):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/389546 ^@ NM_005477.2(HCN4):c.1729C>T (p.Leu577=) http://identifiers.org/clinvar/392647 ^@ NM_005477.2(HCN4):c.1437C>T (p.Ile479=) http://identifiers.org/clinvar/392927 ^@ NM_001614.3(ACTG1):c.637A>C (p.Lys213Gln) http://identifiers.org/clinvar/392688 ^@ NM_005477.2(HCN4):c.1338T>G (p.Pro446=) http://identifiers.org/clinvar/384823 ^@ NM_005477.2(HCN4):c.1303C>T (p.Leu435=) http://identifiers.org/clinvar/383360 ^@ NM_000126.3(ETFA):c.-40G>A http://identifiers.org/clinvar/383164 ^@ NM_007254.3(PNKP):c.1515A>G (p.Leu505=) http://identifiers.org/clinvar/387954 ^@ NM_001614.3(ACTG1):c.364-10C>T http://identifiers.org/clinvar/379531 ^@ NM_007254.3(PNKP):c.1386+1G>A http://identifiers.org/clinvar/385707 ^@ NM_007254.3(PNKP):c.1233A>G (p.Thr411=) http://identifiers.org/clinvar/386602 ^@ NM_004870.3(MPDU1):c.114C>G (p.Leu38=) http://identifiers.org/clinvar/391012 ^@ NM_003978.4(PSTPIP1):c.138-8T>C http://identifiers.org/clinvar/378437 ^@ NM_003978.4(PSTPIP1):c.488C>T (p.Ala163Val) http://identifiers.org/clinvar/385882 ^@ NM_000546.5(TP53):c.920-13G>C http://identifiers.org/clinvar/383110 ^@ NM_007254.3(PNKP):c.1207C>T (p.Gln403Ter) http://identifiers.org/clinvar/389540 ^@ NM_001614.3(ACTG1):c.364-20C>T http://identifiers.org/clinvar/382187 ^@ NM_001614.3(ACTG1):c.-24C>T http://identifiers.org/clinvar/379596 ^@ NM_000546.5(TP53):c.920-14T>C http://identifiers.org/clinvar/380473 ^@ NM_001614.3(ACTG1):c.-32C>T http://identifiers.org/clinvar/380447 ^@ NM_000137.2(FAH):c.82-19G>A http://identifiers.org/clinvar/388746 ^@ NM_000137.2(FAH):c.961-15G>A http://identifiers.org/clinvar/378746 ^@ NM_000546.5(TP53):c.919+9G>A http://identifiers.org/clinvar/385524 ^@ NM_001614.3(ACTG1):c.-42G>A http://identifiers.org/clinvar/392824 ^@ NM_007254.3(PNKP):c.1062C>T (p.Leu354=) http://identifiers.org/clinvar/381354 ^@ NM_007254.3(PNKP):c.1030-9C>T http://identifiers.org/clinvar/379336 ^@ NM_000546.5(TP53):c.673-1G>A http://identifiers.org/clinvar/390931 ^@ NM_020778.4(ALPK3):c.-30G>T http://identifiers.org/clinvar/392548 ^@ NM_016492.4(RANGRF):c.194+13C>T http://identifiers.org/clinvar/381366 ^@ NM_000546.5(TP53):c.672+9T>C http://identifiers.org/clinvar/392122 ^@ NM_005993.4(TBCD):c.1615G>A (p.Val539Ile) http://identifiers.org/clinvar/391407 ^@ NM_007254.3(PNKP):c.1009G>C (p.Glu337Gln) http://identifiers.org/clinvar/392070 ^@ NM_007254.3(PNKP):c.936+6G>A http://identifiers.org/clinvar/389853 ^@ NM_020778.4(ALPK3):c.1013C>T (p.Thr338Ile) http://identifiers.org/clinvar/393181 ^@ NM_005993.4(TBCD):c.1739G>A (p.Arg580Gln) http://identifiers.org/clinvar/391059 ^@ NM_020778.4(ALPK3):c.1254C>G (p.Leu418=) http://identifiers.org/clinvar/386369 ^@ NM_020778.4(ALPK3):c.2783A>G (p.Gln928Arg) http://identifiers.org/clinvar/384057 ^@ NM_000546.5(TP53):c.564G>A (p.Leu188=) http://identifiers.org/clinvar/381158 ^@ NM_022068.3(PIEZO2):c.7440C>G (p.Thr2480=) http://identifiers.org/clinvar/381792 ^@ NM_007254.3(PNKP):c.579-19C>T http://identifiers.org/clinvar/392700 ^@ NM_007254.3(PNKP):c.408G>T (p.Pro136=) http://identifiers.org/clinvar/377451 ^@ NM_006796.2(AFG3L2):c.1981-14T>C http://identifiers.org/clinvar/392576 ^@ NM_006796.2(AFG3L2):c.1646T>C (p.Ile549Thr) http://identifiers.org/clinvar/378393 ^@ NM_007254.3(PNKP):c.403C>T (p.Leu135=) http://identifiers.org/clinvar/392935 ^@ NM_006796.2(AFG3L2):c.1536A>C (p.Leu512Phe) http://identifiers.org/clinvar/389654 ^@ NM_020774.3(MIB1):c.2325G>A (p.Ser775=) http://identifiers.org/clinvar/378744 ^@ NM_000546.5(TP53):c.376-17C>T http://identifiers.org/clinvar/385441 ^@ NM_000546.5(TP53):c.375+16G>A http://identifiers.org/clinvar/384702 ^@ NM_020774.3(MIB1):c.2393+10A>G http://identifiers.org/clinvar/379461 ^@ NM_000546.5(TP53):c.375+13G>A http://identifiers.org/clinvar/392020 ^@ NM_020778.4(ALPK3):c.3149C>T (p.Pro1050Leu) http://identifiers.org/clinvar/389752 ^@ NM_000546.5(TP53):c.-12C>T http://identifiers.org/clinvar/387857 ^@ NM_007254.3(PNKP):c.357G>A (p.Pro119=) http://identifiers.org/clinvar/386363 ^@ NM_020778.4(ALPK3):c.3968A>G (p.Gln1323Arg) http://identifiers.org/clinvar/384674 ^@ NM_020778.4(ALPK3):c.4056T>C (p.Gly1352=) http://identifiers.org/clinvar/378743 ^@ NM_000546.5(TP53):c.-16C>T http://identifiers.org/clinvar/383786 ^@ NM_020778.4(ALPK3):c.4234C>T (p.Arg1412Trp) http://identifiers.org/clinvar/384675 ^@ NM_020778.4(ALPK3):c.4560G>A (p.Glu1520=) http://identifiers.org/clinvar/386376 ^@ NM_020774.3(MIB1):c.2445C>G (p.Thr815=) http://identifiers.org/clinvar/389762 ^@ NM_020778.4(ALPK3):c.4669G>A (p.Ala1557Thr) http://identifiers.org/clinvar/384728 ^@ NM_000546.5(TP53):c.-20C>G http://identifiers.org/clinvar/382549 ^@ NM_002894.2(RBBP8):c.153-3T>C http://identifiers.org/clinvar/384691 ^@ NM_020778.4(ALPK3):c.4865T>C (p.Leu1622Pro) http://identifiers.org/clinvar/392428 ^@ NM_002894.2(RBBP8):c.808-8T>C http://identifiers.org/clinvar/387676 ^@ NM_007254.3(PNKP):c.24C>T (p.Gly8=) http://identifiers.org/clinvar/379854 ^@ NM_007254.3(PNKP):c.-7A>C http://identifiers.org/clinvar/383818 ^@ NM_007254.3(PNKP):c.-26G>T http://identifiers.org/clinvar/380428 ^@ NM_002691.3(POLD1):c.-48G>A http://identifiers.org/clinvar/391008 ^@ NM_002691.3(POLD1):c.-1-7C>T http://identifiers.org/clinvar/392640 ^@ NM_018081.2(WRAP53):c.1075C>T (p.Pro359Ser) http://identifiers.org/clinvar/390450 ^@ NM_020778.4(ALPK3):c.5080G>A (p.Ala1694Thr) http://identifiers.org/clinvar/379568 ^@ NM_138793.3(CANT1):c.1172G>A (p.Gly391Glu) http://identifiers.org/clinvar/390237 ^@ NM_020778.4(ALPK3):c.5105+5G>C http://identifiers.org/clinvar/384676 ^@ NM_020778.4(ALPK3):c.*5C>T http://identifiers.org/clinvar/380488 ^@ NM_000271.4(NPC1):c.2778G>A (p.Ala926=) http://identifiers.org/clinvar/385305 ^@ NM_013227.3(ACAN):c.4639G>A (p.Gly1547Arg) http://identifiers.org/clinvar/386686 ^@ NM_013227.3(ACAN):c.5567G>A (p.Ser1856Asn) http://identifiers.org/clinvar/389474 ^@ NM_000152.4(GAA):c.-37A>G http://identifiers.org/clinvar/383797 ^@ NM_002691.3(POLD1):c.202+11G>A http://identifiers.org/clinvar/380633 ^@ NM_002691.3(POLD1):c.234C>G (p.Arg78=) http://identifiers.org/clinvar/386960 ^@ NM_000152.4(GAA):c.607C>T (p.Arg203Trp) http://identifiers.org/clinvar/383185 ^@ NM_002693.2(POLG):c.3527C>A (p.Ser1176Ter) http://identifiers.org/clinvar/380219 ^@ NM_002691.3(POLD1):c.324G>A (p.Ala108=) http://identifiers.org/clinvar/378417 ^@ NM_002693.2(POLG):c.3444C>T (p.Arg1148=) http://identifiers.org/clinvar/386070 ^@ NM_002691.3(POLD1):c.464-12C>T http://identifiers.org/clinvar/378276 ^@ NM_000271.4(NPC1):c.463+19A>G http://identifiers.org/clinvar/391039 ^@ NM_002693.2(POLG):c.3405C>T (p.Asp1135=) http://identifiers.org/clinvar/389242 ^@ NM_002691.3(POLD1):c.474C>T (p.Pro158=) http://identifiers.org/clinvar/391876 ^@ NM_002693.2(POLG):c.3340G>A (p.Val1114Met) http://identifiers.org/clinvar/391075 ^@ NM_002691.3(POLD1):c.495A>G (p.Gln165=) http://identifiers.org/clinvar/381517 ^@ NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) http://identifiers.org/clinvar/386312 ^@ NM_002691.3(POLD1):c.590-16C>T http://identifiers.org/clinvar/378416 ^@ NM_002693.2(POLG):c.3030C>T (p.Leu1010=) http://identifiers.org/clinvar/382531 ^@ NM_002693.2(POLG):c.2982-3C>T http://identifiers.org/clinvar/379570 ^@ NM_000227.4(LAMA3):c.-8160T>G http://identifiers.org/clinvar/388892 ^@ NM_000152.4(GAA):c.1092G>A (p.Pro364=) http://identifiers.org/clinvar/387742 ^@ NM_014646.2(LPIN2):c.2535A>C (p.Gly845=) http://identifiers.org/clinvar/390351 ^@ NM_002693.2(POLG):c.2734+16G>A http://identifiers.org/clinvar/391787 ^@ NM_014646.2(LPIN2):c.2327+9C>A http://identifiers.org/clinvar/388407 ^@ NM_002691.3(POLD1):c.783C>G (p.Val261=) http://identifiers.org/clinvar/383995 ^@ NM_000152.4(GAA):c.1194+17G>T http://identifiers.org/clinvar/386450 ^@ NM_014646.2(LPIN2):c.1347C>T (p.Ser449=) http://identifiers.org/clinvar/392282 ^@ NM_002693.2(POLG):c.2733T>G (p.His911Gln) http://identifiers.org/clinvar/378091 ^@ NM_014646.2(LPIN2):c.446C>T (p.Pro149Leu) http://identifiers.org/clinvar/383469 ^@ NM_000152.4(GAA):c.1551+12C>A http://identifiers.org/clinvar/393144 ^@ NM_002693.2(POLG):c.2727C>T (p.Gly909=) http://identifiers.org/clinvar/382403 ^@ NM_000152.4(GAA):c.1755-7A>G http://identifiers.org/clinvar/378413 ^@ NM_002693.2(POLG):c.2149C>T (p.Leu717=) http://identifiers.org/clinvar/386416 ^@ NM_002691.3(POLD1):c.841-10A>G http://identifiers.org/clinvar/380732 ^@ NM_024422.4(DSC2):c.2163G>A (p.Thr721=) http://identifiers.org/clinvar/391582 ^@ NM_000152.4(GAA):c.1758G>A (p.Ala586=) http://identifiers.org/clinvar/377803 ^@ NM_024422.4(DSC2):c.2157T>C (p.Ser719=) http://identifiers.org/clinvar/392862 ^@ NM_000152.4(GAA):c.2316G>T (p.Trp772Cys) http://identifiers.org/clinvar/380291 ^@ NM_002693.2(POLG):c.2121C>A (p.Asn707Lys) http://identifiers.org/clinvar/391089 ^@ NM_000152.4(GAA):c.2445C>T (p.Asn815=) http://identifiers.org/clinvar/389031 ^@ NM_002691.3(POLD1):c.867C>T (p.Asp289=) http://identifiers.org/clinvar/386771 ^@ NM_002691.3(POLD1):c.970+10C>T http://identifiers.org/clinvar/385101 ^@ NM_024422.4(DSC2):c.1938T>C (p.Tyr646=) http://identifiers.org/clinvar/378412 ^@ NM_002693.2(POLG):c.2070+14C>G http://identifiers.org/clinvar/387268 ^@ NM_002691.3(POLD1):c.1095T>A (p.Gly365=) http://identifiers.org/clinvar/383540 ^@ NM_002691.3(POLD1):c.1261C>T (p.Leu421=) http://identifiers.org/clinvar/378411 ^@ NM_002693.2(POLG):c.1905G>T (p.Pro635=) http://identifiers.org/clinvar/387045 ^@ NM_024422.4(DSC2):c.1077+11G>A http://identifiers.org/clinvar/380981 ^@ NM_002693.2(POLG):c.1764C>T (p.Gly588=) http://identifiers.org/clinvar/390709 ^@ NM_002691.3(POLD1):c.1464C>T (p.Asp488=) http://identifiers.org/clinvar/386092 ^@ NM_002691.3(POLD1):c.1489C>T (p.Leu497=) http://identifiers.org/clinvar/393014 ^@ NM_024422.4(DSC2):c.737A>G (p.Glu246Gly) http://identifiers.org/clinvar/377802 ^@ NM_024422.4(DSC2):c.70-20G>A http://identifiers.org/clinvar/385965 ^@ NM_002691.3(POLD1):c.1617T>C (p.Thr539=) http://identifiers.org/clinvar/382698 ^@ NM_002691.3(POLD1):c.1775+16G>A http://identifiers.org/clinvar/378410 ^@ NM_002693.2(POLG):c.1638C>T (p.Arg546=) http://identifiers.org/clinvar/386689 ^@ NM_001139.2(ALOX12B):c.1163C>T (p.Ala388Val) http://identifiers.org/clinvar/383417 ^@ NM_002691.3(POLD1):c.1785C>T (p.Asp595=) http://identifiers.org/clinvar/389606 ^@ NM_002691.3(POLD1):c.1869G>T (p.Arg623=) http://identifiers.org/clinvar/379385 ^@ NM_001614.3(ACTG1):c.486G>A (p.Thr162=) http://identifiers.org/clinvar/387972 ^@ NM_001614.3(ACTG1):c.180C>T (p.Ser60=) http://identifiers.org/clinvar/381078 ^@ NM_002693.2(POLG):c.1629C>T (p.Val543=) http://identifiers.org/clinvar/380399 ^@ NM_002693.2(POLG):c.1588C>T (p.Leu530Phe) http://identifiers.org/clinvar/388902 ^@ NM_002691.3(POLD1):c.1926C>T (p.Thr642=) http://identifiers.org/clinvar/387851 ^@ NM_024422.4(DSC2):c.-22C>T http://identifiers.org/clinvar/380703 ^@ NM_024422.4(DSC2):c.-25C>G http://identifiers.org/clinvar/382179 ^@ NM_002691.3(POLD1):c.2001G>A (p.Arg667=) http://identifiers.org/clinvar/381983 ^@ NM_002691.3(POLD1):c.2006+15T>C http://identifiers.org/clinvar/385516 ^@ NM_001614.3(ACTG1):c.39C>T (p.Gly13=) http://identifiers.org/clinvar/385287 ^@ NM_002693.2(POLG):c.1433+14G>C http://identifiers.org/clinvar/379796 ^@ NM_002693.2(POLG):c.694C>T (p.Arg232Cys) http://identifiers.org/clinvar/377801 ^@ NM_024422.4(DSC2):c.-31C>T http://identifiers.org/clinvar/389915 ^@ NM_002691.3(POLD1):c.2250+18G>A http://identifiers.org/clinvar/382911 ^@ NM_001614.3(ACTG1):c.-6-7C>T http://identifiers.org/clinvar/379096 ^@ NM_002693.2(POLG):c.489C>T (p.Pro163=) http://identifiers.org/clinvar/389987 ^@ NM_002691.3(POLD1):c.2313G>A (p.Ala771=) http://identifiers.org/clinvar/380121 ^@ NM_001942.3(DSG1):c.2828T>C (p.Leu943Ser) http://identifiers.org/clinvar/381505 ^@ NM_001614.3(ACTG1):c.-6-14C>G http://identifiers.org/clinvar/389075 ^@ NM_001943.4(DSG2):c.828+13C>T http://identifiers.org/clinvar/383899 ^@ NM_001943.4(DSG2):c.1410G>A (p.Val470=) http://identifiers.org/clinvar/386609 ^@ NM_000371.3(TTR):c.70-9T>C http://identifiers.org/clinvar/379758 ^@ NM_001614.3(ACTG1):c.-31G>C http://identifiers.org/clinvar/378834 ^@ NM_000371.3(TTR):c.267C>T (p.Tyr89=) http://identifiers.org/clinvar/385306 ^@ NM_030632.2(ASXL3):c.2152C>T (p.Pro718Ser) http://identifiers.org/clinvar/389938 ^@ NM_030632.2(ASXL3):c.2965C>G (p.Arg989Gly) http://identifiers.org/clinvar/392655 ^@ NM_002691.3(POLD1):c.2388+9C>G http://identifiers.org/clinvar/389076 ^@ NM_001390.4(DTNA):c.423A>G (p.Gly141=) http://identifiers.org/clinvar/381383 ^@ NM_002693.2(POLG):c.384G>T (p.Pro128=) http://identifiers.org/clinvar/390962 ^@ NM_001390.4(DTNA):c.449-12T>C http://identifiers.org/clinvar/385422 ^@ NM_002949.3(MRPL12):c.-46C>T http://identifiers.org/clinvar/380074 ^@ NM_002949.3(MRPL12):c.133T>C (p.Cys45Arg) http://identifiers.org/clinvar/383455 ^@ NM_002691.3(POLD1):c.2502G>A (p.Arg834=) http://identifiers.org/clinvar/385027 ^@ NM_002949.3(MRPL12):c.261+5C>T http://identifiers.org/clinvar/392973 ^@ NM_002693.2(POLG):c.381G>T (p.Leu127=) http://identifiers.org/clinvar/386495 ^@ NM_001390.4(DTNA):c.675G>A (p.Leu225=) http://identifiers.org/clinvar/381021 ^@ NM_001390.4(DTNA):c.1094+1787C>T http://identifiers.org/clinvar/384095 ^@ NM_002691.3(POLD1):c.2661G>A (p.Leu887=) http://identifiers.org/clinvar/383654 ^@ NM_002693.2(POLG):c.336C>G (p.Leu112=) http://identifiers.org/clinvar/392034 ^@ NM_002691.3(POLD1):c.2670G>A (p.Ala890=) http://identifiers.org/clinvar/387993 ^@ NM_002949.3(MRPL12):c.285C>T (p.Val95=) http://identifiers.org/clinvar/381522 ^@ NM_002693.2(POLG):c.264C>G (p.Phe88Leu) http://identifiers.org/clinvar/388815 ^@ NM_002691.3(POLD1):c.2676C>T (p.Ser892=) http://identifiers.org/clinvar/387577 ^@ NM_002693.2(POLG):c.186A>G (p.Leu62=) http://identifiers.org/clinvar/382312 ^@ NM_002691.3(POLD1):c.2727G>A (p.Lys909=) http://identifiers.org/clinvar/378909 ^@ NM_002693.2(POLG):c.150G>A (p.Gln50=) http://identifiers.org/clinvar/387391 ^@ NM_001390.4(DTNA):c.1662+2093G>A http://identifiers.org/clinvar/389646 ^@ NM_198525.2(KIF7):c.-18G>C http://identifiers.org/clinvar/380549 ^@ NM_002949.3(MRPL12):c.313T>C (p.Ser105Pro) http://identifiers.org/clinvar/390909 ^@ NM_002949.3(MRPL12):c.411G>A (p.Ala137=) http://identifiers.org/clinvar/383846 ^@ NM_001390.4(DTNA):c.1677C>T (p.Gly559=) http://identifiers.org/clinvar/389899 ^@ NM_006907.3(PYCR1):c.30G>A (p.Gln10=) http://identifiers.org/clinvar/392865 ^@ NM_002691.3(POLD1):c.2757C>T (p.Gly919=) http://identifiers.org/clinvar/381766 ^@ NM_002691.3(POLD1):c.2953+4C>T http://identifiers.org/clinvar/382321 ^@ NM_001390.4(DTNA):c.2072G>A (p.Arg691His) http://identifiers.org/clinvar/391703 ^@ NM_002691.3(POLD1):c.3118G>A (p.Glu1040Lys) http://identifiers.org/clinvar/388063 ^@ NM_001271.3(CHD2):c.63-19C>T http://identifiers.org/clinvar/386182 ^@ NM_001271.3(CHD2):c.295-20G>A http://identifiers.org/clinvar/392190 ^@ NM_020964.2(EPG5):c.6871A>G (p.Ser2291Gly) http://identifiers.org/clinvar/391015 ^@ NM_002691.3(POLD1):c.3204C>T (p.Asp1068=) http://identifiers.org/clinvar/392189 ^@ NM_020964.2(EPG5):c.6166C>T (p.Arg2056Trp) http://identifiers.org/clinvar/385694 ^@ NM_001271.3(CHD2):c.600A>G (p.Gly200=) http://identifiers.org/clinvar/382983 ^@ NM_001001937.1(ATP5A1):c.1581-20C>T http://identifiers.org/clinvar/389799 ^@ NM_001001937.1(ATP5A1):c.1567T>C (p.Leu523=) http://identifiers.org/clinvar/385017 ^@ NM_001001937.1(ATP5A1):c.1257C>A (p.Ser419=) http://identifiers.org/clinvar/386327 ^@ NM_002691.3(POLD1):c.3218+14C>T http://identifiers.org/clinvar/385491 ^@ NM_001271.3(CHD2):c.855G>A (p.Ala285=) http://identifiers.org/clinvar/386163 ^@ NM_001271.3(CHD2):c.891C>T (p.Asp297=) http://identifiers.org/clinvar/385198 ^@ NM_002691.3(POLD1):c.3258G>C (p.Arg1086=) http://identifiers.org/clinvar/388302 ^@ NM_004104.4(FASN):c.3273C>T (p.Gly1091=) http://identifiers.org/clinvar/377834 ^@ NM_001985.2(ETFB):c.519G>C (p.Leu173=) http://identifiers.org/clinvar/381409 ^@ NM_001001937.1(ATP5A1):c.94G>T (p.Ala32Ser) http://identifiers.org/clinvar/388590 ^@ NM_003283.5(TNNT1):c.611+12G>A http://identifiers.org/clinvar/392541 ^@ NM_016492.4(RANGRF):c.-19A>C http://identifiers.org/clinvar/382276 ^@ NM_001001937.1(ATP5A1):c.-39T>C http://identifiers.org/clinvar/387414 ^@ NM_003283.5(TNNT1):c.156G>A (p.Pro52=) http://identifiers.org/clinvar/392557 ^@ NM_003283.5(TNNT1):c.144T>A (p.Pro48=) http://identifiers.org/clinvar/384493 ^@ NM_003283.5(TNNT1):c.32+8C>T http://identifiers.org/clinvar/392818 ^@ NM_016492.4(RANGRF):c.27G>C (p.Leu9=) http://identifiers.org/clinvar/378739 ^@ NM_000363.4(TNNI3):c.432G>T (p.Leu144=) http://identifiers.org/clinvar/391132 ^@ NM_000363.4(TNNI3):c.373-16C>T http://identifiers.org/clinvar/384111 ^@ NM_000363.4(TNNI3):c.372+20C>T http://identifiers.org/clinvar/392547 ^@ NM_016492.4(RANGRF):c.77+5G>A http://identifiers.org/clinvar/380137 ^@ NM_175614.4(NDUFA11):c.*67+1743G>A http://identifiers.org/clinvar/379871 ^@ NM_016492.4(RANGRF):c.77+19C>G http://identifiers.org/clinvar/378972 ^@ NM_005359.5(SMAD4):c.60G>A (p.Val20=) http://identifiers.org/clinvar/391504 ^@ NM_022068.3(PIEZO2):c.3264C>G (p.Ala1088=) http://identifiers.org/clinvar/389714 ^@ NM_000064.3(C3):c.2861G>A (p.Arg954His) http://identifiers.org/clinvar/390139 ^@ NM_006702.4(PNPLA6):c.297-18C>T http://identifiers.org/clinvar/384240 ^@ NM_006796.2(AFG3L2):c.*16C>T http://identifiers.org/clinvar/385065 ^@ NM_006702.4(PNPLA6):c.1135+17C>A http://identifiers.org/clinvar/385549 ^@ NM_001271.3(CHD2):c.1220C>T (p.Pro407Leu) http://identifiers.org/clinvar/389397 ^@ NM_006796.2(AFG3L2):c.1761C>T (p.His587=) http://identifiers.org/clinvar/387876 ^@ NM_006702.4(PNPLA6):c.1509C>T (p.Phe503=) http://identifiers.org/clinvar/389316 ^@ NM_006702.4(PNPLA6):c.2068-15C>T http://identifiers.org/clinvar/379105 ^@ NM_006796.2(AFG3L2):c.1407C>T (p.Phe469=) http://identifiers.org/clinvar/380865 ^@ NM_006702.4(PNPLA6):c.2704-19A>G http://identifiers.org/clinvar/390868 ^@ NM_020774.3(MIB1):c.201C>T (p.Asp67=) http://identifiers.org/clinvar/389462 ^@ NM_005359.5(SMAD4):c.144G>A (p.Lys48=) http://identifiers.org/clinvar/390978 ^@ NM_020774.3(MIB1):c.736T>C (p.Leu246=) http://identifiers.org/clinvar/378402 ^@ NM_006702.4(PNPLA6):c.3096+20T>G http://identifiers.org/clinvar/379185 ^@ NM_006351.3(TIMM44):c.804C>T (p.Ser268=) http://identifiers.org/clinvar/382939 ^@ NM_001271.3(CHD2):c.1359C>T (p.Ile453=) http://identifiers.org/clinvar/391318 ^@ NM_001271.3(CHD2):c.1770C>T (p.Asn590=) http://identifiers.org/clinvar/393140 ^@ NM_005359.5(SMAD4):c.155A>T (p.Asp52Val) http://identifiers.org/clinvar/391539 ^@ NM_001271.3(CHD2):c.1810-3T>C http://identifiers.org/clinvar/385768 ^@ NM_005359.5(SMAD4):c.387T>C (p.Asn129=) http://identifiers.org/clinvar/382685 ^@ NM_001271.3(CHD2):c.2505+19T>C http://identifiers.org/clinvar/392730 ^@ NM_002894.2(RBBP8):c.139C>T (p.Gln47Ter) http://identifiers.org/clinvar/383090 ^@ NM_001271.3(CHD2):c.2730A>T (p.Val910=) http://identifiers.org/clinvar/378926 ^@ NM_005359.5(SMAD4):c.455-8C>T http://identifiers.org/clinvar/385613 ^@ NM_000271.4(NPC1):c.631+17C>T http://identifiers.org/clinvar/386414 ^@ NM_005359.5(SMAD4):c.510A>G (p.Pro170=) http://identifiers.org/clinvar/386974 ^@ NM_001271.3(CHD2):c.2877-15A>G http://identifiers.org/clinvar/386782 ^@ NM_014646.2(LPIN2):c.2484A>G (p.Arg828=) http://identifiers.org/clinvar/378731 ^@ NM_006351.3(TIMM44):c.423C>T (p.Leu141=) http://identifiers.org/clinvar/380411 ^@ NM_005359.5(SMAD4):c.582A>G (p.Thr194=) http://identifiers.org/clinvar/378094 ^@ NM_014646.2(LPIN2):c.1815G>A (p.Ser605=) http://identifiers.org/clinvar/378625 ^@ NM_005359.5(SMAD4):c.667+9T>C http://identifiers.org/clinvar/388405 ^@ NM_024422.4(DSC2):c.2509-118A>G http://identifiers.org/clinvar/377632 ^@ NM_016579.3(CD320):c.522G>T (p.Pro174=) http://identifiers.org/clinvar/382352 ^@ NM_024422.4(DSC2):c.2251-20G>A http://identifiers.org/clinvar/385763 ^@ NM_005359.5(SMAD4):c.1236C>T (p.Tyr412=) http://identifiers.org/clinvar/381943 ^@ NM_005359.5(SMAD4):c.1395G>A (p.Val465=) http://identifiers.org/clinvar/392696 ^@ NM_024422.4(DSC2):c.776-13T>G http://identifiers.org/clinvar/377595 ^@ NM_024120.4(NDUFAF5):c.216G>A (p.Lys72=) http://identifiers.org/clinvar/380755 ^@ NM_001943.4(DSG2):c.-22G>A http://identifiers.org/clinvar/382649 ^@ NM_001271.3(CHD2):c.3400G>A (p.Ala1134Thr) http://identifiers.org/clinvar/382929 ^@ NM_001271.3(CHD2):c.3413+16G>A http://identifiers.org/clinvar/377597 ^@ NM_024120.4(NDUFAF5):c.449A>G (p.Asn150Ser) http://identifiers.org/clinvar/385224 ^@ NM_001271.3(CHD2):c.3552A>G (p.Ala1184=) http://identifiers.org/clinvar/389140 ^@ NM_005359.5(SMAD4):c.1641C>T (p.Asp547=) http://identifiers.org/clinvar/388620 ^@ NM_001943.4(DSG2):c.-16C>G http://identifiers.org/clinvar/392870 ^@ NM_001083962.1(TCF4):c.1907G>A (p.Cys636Tyr) http://identifiers.org/clinvar/383704 ^@ NM_001271.3(CHD2):c.3903A>G (p.Thr1301=) http://identifiers.org/clinvar/377804 ^@ NM_001943.4(DSG2):c.2001+20A>G http://identifiers.org/clinvar/378713 ^@ NM_001083962.1(TCF4):c.369+12T>G http://identifiers.org/clinvar/387965 ^@ NM_024120.4(NDUFAF5):c.882T>C (p.Asp294=) http://identifiers.org/clinvar/382951 ^@ NM_024120.4(NDUFAF5):c.*7A>C http://identifiers.org/clinvar/388699 ^@ NM_052865.3(MGME1):c.735C>G (p.Gly245=) http://identifiers.org/clinvar/383902 ^@ NM_005603.4(ATP8B1):c.3016-19A>G http://identifiers.org/clinvar/389214 ^@ NM_001271.3(CHD2):c.3952T>C (p.Leu1318=) http://identifiers.org/clinvar/383293 ^@ NM_005603.4(ATP8B1):c.2546G>A (p.Arg849Gln) http://identifiers.org/clinvar/385374 ^@ NM_001271.3(CHD2):c.4078G>A (p.Gly1360Arg) http://identifiers.org/clinvar/391210 ^@ NM_005603.4(ATP8B1):c.-23+10G>C http://identifiers.org/clinvar/391359 ^@ NM_015277.5(NEDD4L):c.1189A>G (p.Ile397Val) http://identifiers.org/clinvar/390346 ^@ NM_018993.3(RIN2):c.85G>A (p.Gly29Arg) http://identifiers.org/clinvar/381801 ^@ NM_173630.3(RTTN):c.5745+13G>T http://identifiers.org/clinvar/387340 ^@ NM_018993.3(RIN2):c.375C>T (p.Thr125=) http://identifiers.org/clinvar/390937 ^@ NM_018993.3(RIN2):c.471C>T (p.Ser157=) http://identifiers.org/clinvar/378899 ^@ NM_001943.4(DSG2):c.2751G>A (p.Ala917=) http://identifiers.org/clinvar/386199 ^@ NM_001943.4(DSG2):c.3291T>C (p.Asn1097=) http://identifiers.org/clinvar/390898 ^@ NM_173630.3(RTTN):c.5647+10A>G http://identifiers.org/clinvar/391990 ^@ NM_000371.3(TTR):c.70-20C>T http://identifiers.org/clinvar/384179 ^@ NM_000371.3(TTR):c.78T>C (p.Gly26=) http://identifiers.org/clinvar/392326 ^@ NM_173630.3(RTTN):c.4748-7A>G http://identifiers.org/clinvar/385495 ^@ NM_001271.3(CHD2):c.4592+13G>A http://identifiers.org/clinvar/383091 ^@ NM_001271.3(CHD2):c.4592+18G>A http://identifiers.org/clinvar/390642 ^@ NM_018993.3(RIN2):c.629-19C>T http://identifiers.org/clinvar/384417 ^@ NM_001271.3(CHD2):c.4599A>G (p.Leu1533=) http://identifiers.org/clinvar/383523 ^@ NM_001390.4(DTNA):c.-262479C>A http://identifiers.org/clinvar/386455 ^@ NM_001271.3(CHD2):c.4644G>A (p.Leu1548=) http://identifiers.org/clinvar/391181 ^@ NM_001271.3(CHD2):c.4807C>T (p.Pro1603Ser) http://identifiers.org/clinvar/387424 ^@ NM_173630.3(RTTN):c.2815A>G (p.Ser939Gly) http://identifiers.org/clinvar/388458 ^@ NM_003244.3(TGIF1):c.-38A>G http://identifiers.org/clinvar/390362 ^@ NM_018993.3(RIN2):c.2031C>A (p.Val677=) http://identifiers.org/clinvar/391212 ^@ NM_032609.2(COX4I2):c.234C>T (p.Ala78=) http://identifiers.org/clinvar/381753 ^@ NM_033118.3(MYLK2):c.1233C>T (p.Asn411=) http://identifiers.org/clinvar/387608 ^@ NM_033118.3(MYLK2):c.1380C>T (p.Ser460=) http://identifiers.org/clinvar/387046 ^@ NM_033118.3(MYLK2):c.*1G>T http://identifiers.org/clinvar/385240 ^@ NM_001271.3(CHD2):c.4990C>G (p.Gln1664Glu) http://identifiers.org/clinvar/385924 ^@ NM_173630.3(RTTN):c.2309+12G>A http://identifiers.org/clinvar/386474 ^@ NM_173630.3(RTTN):c.885A>G (p.Ala295=) http://identifiers.org/clinvar/384954 ^@ NM_001271.3(CHD2):c.5049C>T (p.Ala1683=) http://identifiers.org/clinvar/385132 ^@ NM_001271.3(CHD2):c.5050C>T (p.His1684Tyr) http://identifiers.org/clinvar/377653 ^@ NM_001271.3(CHD2):c.5268G>C (p.Gln1756His) http://identifiers.org/clinvar/390320 ^@ NM_000875.4(IGF1R):c.2201+5C>G http://identifiers.org/clinvar/386702 ^@ NM_145728.2(SYNM):c.3114C>T (p.Ser1038=) http://identifiers.org/clinvar/386336 ^@ NM_033118.3(MYLK2):c.*9C>T http://identifiers.org/clinvar/389077 ^@ NM_001390.4(DTNA):c.-45526G>T http://identifiers.org/clinvar/390436 ^@ NM_001390.4(DTNA):c.1173-12G>T http://identifiers.org/clinvar/392399 ^@ NM_004715.4(CTDP1):c.440C>T (p.Thr147Met) http://identifiers.org/clinvar/378263 ^@ NM_021074.4(NDUFV2):c.-5C>A http://identifiers.org/clinvar/378631 ^@ NM_003098.2(SNTA1):c.1488C>A (p.Ala496=) http://identifiers.org/clinvar/386121 ^@ NM_000833.4(GRIN2A):c.306C>T (p.Asp102=) http://identifiers.org/clinvar/392390 ^@ NM_021074.4(NDUFV2):c.192G>A (p.Glu64=) http://identifiers.org/clinvar/384983 ^@ NM_021074.4(NDUFV2):c.324T>A (p.Pro108=) http://identifiers.org/clinvar/390641 ^@ NM_003098.2(SNTA1):c.1480C>T (p.Leu494=) http://identifiers.org/clinvar/391855 ^@ NM_003098.2(SNTA1):c.1157C>T (p.Pro386Leu) http://identifiers.org/clinvar/389304 ^@ NM_001130823.2(DNMT1):c.4734C>T (p.Thr1578=) http://identifiers.org/clinvar/377788 ^@ NM_001130823.2(DNMT1):c.4294-19G>C http://identifiers.org/clinvar/392800 ^@ NM_003098.2(SNTA1):c.1015C>T (p.Arg339Cys) http://identifiers.org/clinvar/387825 ^@ NM_001130823.2(DNMT1):c.4032G>A (p.Pro1344=) http://identifiers.org/clinvar/380892 ^@ NM_000833.4(GRIN2A):c.294C>T (p.Leu98=) http://identifiers.org/clinvar/381317 ^@ NM_001130823.2(DNMT1):c.3117-9C>T http://identifiers.org/clinvar/377815 ^@ NM_001390.4(DTNA):c.1354-19T>C http://identifiers.org/clinvar/381087 ^@ NM_001390.4(DTNA):c.1683C>T (p.Pro561=) http://identifiers.org/clinvar/391906 ^@ NM_003098.2(SNTA1):c.763G>C (p.Ala255Pro) http://identifiers.org/clinvar/382837 ^@ NM_001130823.2(DNMT1):c.2913C>T (p.Pro971=) http://identifiers.org/clinvar/385622 ^@ NM_000833.4(GRIN2A):c.-215G>T http://identifiers.org/clinvar/385825 ^@ NM_001390.4(DTNA):c.2076C>T (p.Gly692=) http://identifiers.org/clinvar/381309 ^@ NM_001130823.2(DNMT1):c.1722G>A (p.Val574=) http://identifiers.org/clinvar/385773 ^@ NM_021098.2(CACNA1H):c.1241G>A (p.Cys414Tyr) http://identifiers.org/clinvar/389248 ^@ NM_001390.4(DTNA):c.*2646T>C http://identifiers.org/clinvar/388460 ^@ NM_021098.2(CACNA1H):c.2662C>A (p.Leu888Met) http://identifiers.org/clinvar/381076 ^@ NM_001130823.2(DNMT1):c.1131C>T (p.Asp377=) http://identifiers.org/clinvar/392798 ^@ NM_003098.2(SNTA1):c.310+19G>A http://identifiers.org/clinvar/378572 ^@ NM_015559.2(SETBP1):c.2791G>A (p.Glu931Lys) http://identifiers.org/clinvar/381073 ^@ NM_001130823.2(DNMT1):c.1053A>G (p.Lys351=) http://identifiers.org/clinvar/382313 ^@ NM_021098.2(CACNA1H):c.3449G>A (p.Arg1150His) http://identifiers.org/clinvar/384778 ^@ NM_001031734.3(FDX1L):c.450G>A (p.Ser150=) http://identifiers.org/clinvar/380038 ^@ NM_001031734.3(FDX1L):c.168T>G (p.Ala56=) http://identifiers.org/clinvar/382982 ^@ NM_001001937.1(ATP5A1):c.1429+19C>A http://identifiers.org/clinvar/386308 ^@ NM_000687.3(AHCY):c.639C>T (p.Gly213=) http://identifiers.org/clinvar/384040 ^@ NM_021100.4(NFS1):c.1053C>T (p.Pro351=) http://identifiers.org/clinvar/380451 ^@ NM_001031734.3(FDX1L):c.154+4C>T http://identifiers.org/clinvar/385012 ^@ NM_021100.4(NFS1):c.166C>T (p.Leu56=) http://identifiers.org/clinvar/380450 ^@ NM_001031734.3(FDX1L):c.85A>G (p.Arg29Gly) http://identifiers.org/clinvar/385798 ^@ NM_001001937.1(ATP5A1):c.1177-20C>T http://identifiers.org/clinvar/387770 ^@ NM_001031734.3(FDX1L):c.-36C>T http://identifiers.org/clinvar/389143 ^@ NM_020433.4(JPH2):c.1722G>A (p.Thr574=) http://identifiers.org/clinvar/391037 ^@ NM_001031734.3(FDX1L):c.-44C>T http://identifiers.org/clinvar/389092 ^@ NM_021098.2(CACNA1H):c.3469C>T (p.Arg1157Cys) http://identifiers.org/clinvar/382547 ^@ NM_021098.2(CACNA1H):c.3655G>A (p.Gly1219Arg) http://identifiers.org/clinvar/392762 ^@ NM_020433.4(JPH2):c.1433C>T (p.Pro478Leu) http://identifiers.org/clinvar/382583 ^@ NM_001001937.1(ATP5A1):c.828G>A (p.Ser276=) http://identifiers.org/clinvar/389769 ^@ NM_021098.2(CACNA1H):c.6440C>T (p.Pro2147Leu) http://identifiers.org/clinvar/380529 ^@ NM_001001937.1(ATP5A1):c.-28A>G http://identifiers.org/clinvar/380062 ^@ NM_001001937.1(ATP5A1):c.-56A>G http://identifiers.org/clinvar/377983 ^@ NM_020433.4(JPH2):c.1107T>C (p.Ser369=) http://identifiers.org/clinvar/383414 ^@ NM_002582.3(PARN):c.1192+4C>T http://identifiers.org/clinvar/386332 ^@ NM_002474.2(MYH11):c.5787-4661C>T http://identifiers.org/clinvar/392894 ^@ NM_005359.5(SMAD4):c.-135G>A http://identifiers.org/clinvar/380662 ^@ NM_003331.4(TYK2):c.3330G>A (p.Glu1110=) http://identifiers.org/clinvar/386946 ^@ NM_003331.4(TYK2):c.2312-4C>G http://identifiers.org/clinvar/392743 ^@ NM_020433.4(JPH2):c.443C>T (p.Pro148Leu) http://identifiers.org/clinvar/390388 ^@ NM_005359.5(SMAD4):c.-39T>A http://identifiers.org/clinvar/385850 ^@ NM_005359.5(SMAD4):c.-11A>C http://identifiers.org/clinvar/386909 ^@ NM_020433.4(JPH2):c.72T>C (p.His24=) http://identifiers.org/clinvar/384457 ^@ NM_002474.2(MYH11):c.4953+15G>A http://identifiers.org/clinvar/385193 ^@ NM_003331.4(TYK2):c.2286G>A (p.Val762=) http://identifiers.org/clinvar/382652 ^@ NM_005359.5(SMAD4):c.132A>G (p.Val44=) http://identifiers.org/clinvar/390383 ^@ NM_003331.4(TYK2):c.708C>T (p.Asn236=) http://identifiers.org/clinvar/378623 ^@ NM_005359.5(SMAD4):c.250-15C>T http://identifiers.org/clinvar/393110 ^@ NM_175914.4(HNF4A):c.224+2T>C http://identifiers.org/clinvar/392789 ^@ NM_005359.5(SMAD4):c.366A>G (p.Lys122=) http://identifiers.org/clinvar/377441 ^@ NM_000022.3(ADA):c.7C>T (p.Gln3Ter) http://identifiers.org/clinvar/382353 ^@ NM_002474.2(MYH11):c.3669C>T (p.Asp1223=) http://identifiers.org/clinvar/383425 ^@ NM_144628.3(TBC1D20):c.-50C>T http://identifiers.org/clinvar/391476 ^@ NM_005359.5(SMAD4):c.667+20G>T http://identifiers.org/clinvar/378838 ^@ NM_003331.4(TYK2):c.157G>A (p.Ala53Thr) http://identifiers.org/clinvar/382168 ^@ NM_002474.2(MYH11):c.3195C>T (p.Ser1065=) http://identifiers.org/clinvar/381034 ^@ NM_001005360.2(DNM2):c.183A>G (p.Ser61=) http://identifiers.org/clinvar/391462 ^@ NM_030777.3(SLC2A10):c.792T>C (p.His264=) http://identifiers.org/clinvar/382046 ^@ NM_001005360.2(DNM2):c.1546-16C>T http://identifiers.org/clinvar/380352 ^@ NM_030777.3(SLC2A10):c.961G>A (p.Val321Met) http://identifiers.org/clinvar/378973 ^@ NM_005359.5(SMAD4):c.876G>A (p.Pro292=) http://identifiers.org/clinvar/391188 ^@ NM_001005360.2(DNM2):c.1584C>T (p.Ile528=) http://identifiers.org/clinvar/388366 ^@ NM_001005360.2(DNM2):c.1758C>T (p.Phe586=) http://identifiers.org/clinvar/380621 ^@ NM_001005360.2(DNM2):c.1781+17C>A http://identifiers.org/clinvar/382225 ^@ NM_006420.2(ARFGEF2):c.424-17G>A http://identifiers.org/clinvar/383541 ^@ NM_005359.5(SMAD4):c.956-5T>C http://identifiers.org/clinvar/393009 ^@ NM_006420.2(ARFGEF2):c.1289A>G (p.Asn430Ser) http://identifiers.org/clinvar/390439 ^@ NM_001005360.2(DNM2):c.1782-4G>C http://identifiers.org/clinvar/389702 ^@ NM_006420.2(ARFGEF2):c.2686-16C>A http://identifiers.org/clinvar/386447 ^@ NM_006420.2(ARFGEF2):c.3221+18C>T http://identifiers.org/clinvar/389307 ^@ NM_006420.2(ARFGEF2):c.3323C>T (p.Pro1108Leu) http://identifiers.org/clinvar/381815 ^@ NM_006420.2(ARFGEF2):c.4790C>T (p.Thr1597Met) http://identifiers.org/clinvar/388390 ^@ NM_004975.3(KCNB1):c.2250G>A (p.Ala750=) http://identifiers.org/clinvar/378974 ^@ NM_005359.5(SMAD4):c.1014A>G (p.Thr338=) http://identifiers.org/clinvar/387511 ^@ NM_004975.3(KCNB1):c.2055C>A (p.Leu685=) http://identifiers.org/clinvar/392965 ^@ NM_004975.3(KCNB1):c.1723C>T (p.Arg575Cys) http://identifiers.org/clinvar/385094 ^@ NM_002474.2(MYH11):c.1865-16T>G http://identifiers.org/clinvar/391756 ^@ NM_004975.3(KCNB1):c.1693A>G (p.Ile565Val) http://identifiers.org/clinvar/389210 ^@ NM_001005360.2(DNM2):c.1836C>T (p.Asp612=) http://identifiers.org/clinvar/383557 ^@ NM_005359.5(SMAD4):c.1140-16C>A http://identifiers.org/clinvar/382020 ^@ NM_002474.2(MYH11):c.1576-9C>T http://identifiers.org/clinvar/381470 ^@ NM_005359.5(SMAD4):c.1140-4T>C http://identifiers.org/clinvar/386218 ^@ NM_002474.2(MYH11):c.1575+8G>A http://identifiers.org/clinvar/378200 ^@ NM_002474.2(MYH11):c.1575+3G>A http://identifiers.org/clinvar/388904 ^@ NM_001128849.1(SMARCA4):c.828T>A (p.Pro276=) http://identifiers.org/clinvar/391823 ^@ NM_001128849.1(SMARCA4):c.1044G>A (p.Lys348=) http://identifiers.org/clinvar/387385 ^@ NM_002474.2(MYH11):c.1503C>G (p.Arg501=) http://identifiers.org/clinvar/391367 ^@ NM_001128849.1(SMARCA4):c.2506-14T>C http://identifiers.org/clinvar/385978 ^@ NM_004975.3(KCNB1):c.1367G>A (p.Arg456Gln) http://identifiers.org/clinvar/379669 ^@ NM_002474.2(MYH11):c.831C>T (p.Asp277=) http://identifiers.org/clinvar/381629 ^@ NM_001128849.1(SMARCA4):c.3380A>G (p.Asp1127Gly) http://identifiers.org/clinvar/383478 ^@ NM_002474.2(MYH11):c.633+1900G>A http://identifiers.org/clinvar/392897 ^@ NM_004975.3(KCNB1):c.1057G>A (p.Glu353Lys) http://identifiers.org/clinvar/381485 ^@ NM_002474.2(MYH11):c.585G>A (p.Leu195=) http://identifiers.org/clinvar/387936 ^@ NM_001128849.1(SMARCA4):c.3873+5G>C http://identifiers.org/clinvar/379588 ^@ NM_002474.2(MYH11):c.57C>T (p.Asn19=) http://identifiers.org/clinvar/385726 ^@ NM_004975.3(KCNB1):c.51G>A (p.Pro17=) http://identifiers.org/clinvar/388472 ^@ NM_001128849.1(SMARCA4):c.4654C>T (p.Arg1552Cys) http://identifiers.org/clinvar/392940 ^@ NM_177559.2(CSNK2A1):c.426+1G>T http://identifiers.org/clinvar/390679 ^@ NM_177559.2(CSNK2A1):c.6G>A (p.Ser2=) http://identifiers.org/clinvar/392306 ^@ NM_000527.4(LDLR):c.1060+18C>A http://identifiers.org/clinvar/385237 ^@ NM_003859.2(DPM1):c.*19T>A http://identifiers.org/clinvar/378975 ^@ NM_005359.5(SMAD4):c.1611C>T (p.Asp537=) http://identifiers.org/clinvar/392091 ^@ NM_000455.4(STK11):c.216G>T (p.Leu72=) http://identifiers.org/clinvar/387558 ^@ NM_003859.2(DPM1):c.1-42A>G http://identifiers.org/clinvar/381232 ^@ NM_000455.4(STK11):c.290+11C>T http://identifiers.org/clinvar/392918 ^@ NM_001853.3(COL9A3):c.388G>A (p.Gly130Ser) http://identifiers.org/clinvar/388706 ^@ NM_001171.5(ABCC6):c.3739C>T (p.Pro1247Ser) http://identifiers.org/clinvar/379499 ^@ NM_005359.5(SMAD4):c.*12G>A http://identifiers.org/clinvar/386590 ^@ NM_000455.4(STK11):c.303A>G (p.Leu101=) http://identifiers.org/clinvar/378717 ^@ NM_001083962.1(TCF4):c.1866G>A (p.Glu622=) http://identifiers.org/clinvar/385368 ^@ NM_001083962.1(TCF4):c.1848C>T (p.Ala616=) http://identifiers.org/clinvar/381636 ^@ NM_001171.5(ABCC6):c.3415G>A (p.Ala1139Thr) http://identifiers.org/clinvar/388872 ^@ NM_001853.3(COL9A3):c.1298G>T (p.Gly433Val) http://identifiers.org/clinvar/385572 ^@ NM_001083962.1(TCF4):c.1587G>A (p.Ser529=) http://identifiers.org/clinvar/384429 ^@ NM_000744.6(CHRNA4):c.1564C>T (p.Pro522Ser) http://identifiers.org/clinvar/387308 ^@ NM_001083962.1(TCF4):c.945C>T (p.Ala315=) http://identifiers.org/clinvar/377677 ^@ NM_000744.6(CHRNA4):c.1431G>A (p.Ala477=) http://identifiers.org/clinvar/381638 ^@ NM_001171.5(ABCC6):c.2420G>A (p.Arg807Gln) http://identifiers.org/clinvar/378715 ^@ NM_001083962.1(TCF4):c.891G>A (p.Thr297=) http://identifiers.org/clinvar/379930 ^@ NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro) http://identifiers.org/clinvar/388070 ^@ NM_000455.4(STK11):c.464+11G>C http://identifiers.org/clinvar/381849 ^@ NM_000455.4(STK11):c.579C>A (p.Ser193=) http://identifiers.org/clinvar/391142 ^@ NM_000744.6(CHRNA4):c.1062C>T (p.Arg354=) http://identifiers.org/clinvar/387197 ^@ NM_001083962.1(TCF4):c.807C>T (p.Ser269=) http://identifiers.org/clinvar/378714 ^@ NM_001083962.1(TCF4):c.790-19T>C http://identifiers.org/clinvar/379894 ^@ NM_001171.5(ABCC6):c.1675G>T (p.Glu559Ter) http://identifiers.org/clinvar/381059 ^@ NM_001083962.1(TCF4):c.305-15C>T http://identifiers.org/clinvar/379234 ^@ NM_001171.5(ABCC6):c.1077A>G (p.Ser359=) http://identifiers.org/clinvar/387832 ^@ NM_000744.6(CHRNA4):c.1044C>T (p.Phe348=) http://identifiers.org/clinvar/389643 ^@ NM_005603.4(ATP8B1):c.2932-3C>G http://identifiers.org/clinvar/392974 ^@ NM_005603.4(ATP8B1):c.2595C>T (p.Cys865=) http://identifiers.org/clinvar/379223 ^@ NM_001171.5(ABCC6):c.487G>A (p.Asp163Asn) http://identifiers.org/clinvar/381237 ^@ NM_000455.4(STK11):c.663G>T (p.Pro221=) http://identifiers.org/clinvar/381144 ^@ NM_000455.4(STK11):c.690C>T (p.Thr230=) http://identifiers.org/clinvar/386015 ^@ NM_005603.4(ATP8B1):c.1014C>T (p.Asn338=) http://identifiers.org/clinvar/388429 ^@ NM_000744.6(CHRNA4):c.858C>G (p.Thr286=) http://identifiers.org/clinvar/393060 ^@ NM_000744.6(CHRNA4):c.274-13C>G http://identifiers.org/clinvar/378676 ^@ NM_000455.4(STK11):c.711C>G (p.Asp237Glu) http://identifiers.org/clinvar/388146 ^@ NM_000548.4(TSC2):c.429C>T (p.Phe143=) http://identifiers.org/clinvar/382385 ^@ NM_005603.4(ATP8B1):c.698+6T>G http://identifiers.org/clinvar/384137 ^@ NM_000744.6(CHRNA4):c.105C>T (p.His35=) http://identifiers.org/clinvar/392668 ^@ NM_015277.5(NEDD4L):c.2033A>G (p.Asn678Ser) http://identifiers.org/clinvar/377668 ^@ NM_000744.6(CHRNA4):c.76+14C>A http://identifiers.org/clinvar/380342 ^@ NM_000455.4(STK11):c.734+19C>T http://identifiers.org/clinvar/379362 ^@ NM_000744.6(CHRNA4):c.42G>A (p.Pro14=) http://identifiers.org/clinvar/384597 ^@ NM_000744.6(CHRNA4):c.-39G>A http://identifiers.org/clinvar/378771 ^@ NM_000548.4(TSC2):c.649-20G>A http://identifiers.org/clinvar/381776 ^@ NM_172107.3(KCNQ2):c.2232G>A (p.Pro744=) http://identifiers.org/clinvar/379483 ^@ NM_172107.3(KCNQ2):c.1887+16C>A http://identifiers.org/clinvar/380613 ^@ NM_000455.4(STK11):c.735-17C>T http://identifiers.org/clinvar/379891 ^@ NM_172107.3(KCNQ2):c.1686C>A (p.Tyr562Ter) http://identifiers.org/clinvar/378679 ^@ NM_000455.4(STK11):c.863-6C>T http://identifiers.org/clinvar/386202 ^@ NM_000455.4(STK11):c.1032G>A (p.Leu344=) http://identifiers.org/clinvar/388950 ^@ NM_172107.3(KCNQ2):c.1247+9C>T http://identifiers.org/clinvar/387571 ^@ NM_172107.3(KCNQ2):c.1023+17C>G http://identifiers.org/clinvar/378772 ^@ NM_000548.4(TSC2):c.775-17C>T http://identifiers.org/clinvar/393264 ^@ NM_172107.3(KCNQ2):c.956A>G (p.Lys319Arg) http://identifiers.org/clinvar/384830 ^@ NM_172107.3(KCNQ2):c.690+3G>A http://identifiers.org/clinvar/383184 ^@ NM_000455.4(STK11):c.1108+12G>A http://identifiers.org/clinvar/391958 ^@ NM_172107.3(KCNQ2):c.657G>C (p.Lys219Asn) http://identifiers.org/clinvar/382887 ^@ NM_000548.4(TSC2):c.976-3C>T http://identifiers.org/clinvar/383954 ^@ NM_000455.4(STK11):c.1108+19C>T http://identifiers.org/clinvar/386457 ^@ NM_000548.4(TSC2):c.1120-16G>A http://identifiers.org/clinvar/381723 ^@ NM_005912.2(MC4R):c.281G>A (p.Ser94Asn) http://identifiers.org/clinvar/384354 ^@ NM_001958.3(EEF1A2):c.1382C>T (p.Ala461Val) http://identifiers.org/clinvar/378680 ^@ NM_000455.4(STK11):c.1109-14C>T http://identifiers.org/clinvar/383889 ^@ NM_001958.3(EEF1A2):c.1296G>A (p.Thr432=) http://identifiers.org/clinvar/387310 ^@ NM_001958.3(EEF1A2):c.1264+10G>T http://identifiers.org/clinvar/384477 ^@ NM_001958.3(EEF1A2):c.924C>T (p.Val308=) http://identifiers.org/clinvar/388557 ^@ NM_000455.4(STK11):c.1294C>T (p.Gln432Ter) http://identifiers.org/clinvar/378363 ^@ NM_176787.4(PIGN):c.2354G>A (p.Arg785His) http://identifiers.org/clinvar/381832 ^@ NM_000455.4(STK11):c.*16+14G>A http://identifiers.org/clinvar/384171 ^@ NM_173630.3(RTTN):c.4932T>G (p.Leu1644=) http://identifiers.org/clinvar/389695 ^@ NM_000548.4(TSC2):c.1240T>G (p.Cys414Gly) http://identifiers.org/clinvar/386678 ^@ NM_173630.3(RTTN):c.1929+3G>A http://identifiers.org/clinvar/378775 ^@ NM_000548.4(TSC2):c.1257+17G>T http://identifiers.org/clinvar/384947 ^@ NM_001958.3(EEF1A2):c.921C>T (p.Asn307=) http://identifiers.org/clinvar/386677 ^@ NM_173630.3(RTTN):c.841+11T>C http://identifiers.org/clinvar/378776 ^@ NM_000548.4(TSC2):c.1308G>A (p.Pro436=) http://identifiers.org/clinvar/390602 ^@ NM_000455.4(STK11):c.*16+20G>T http://identifiers.org/clinvar/384499 ^@ NM_001958.3(EEF1A2):c.912C>T (p.Pro304=) http://identifiers.org/clinvar/387550 ^@ NM_000548.4(TSC2):c.1317C>T (p.Asp439=) http://identifiers.org/clinvar/386890 ^@ NM_001958.3(EEF1A2):c.375G>A (p.Ala125=) http://identifiers.org/clinvar/388409 ^@ NM_000159.3(GCDH):c.-35+3A>G http://identifiers.org/clinvar/389376 ^@ NM_000548.4(TSC2):c.1362-10C>T http://identifiers.org/clinvar/383238 ^@ NM_000548.4(TSC2):c.1443+5G>A http://identifiers.org/clinvar/387011 ^@ NM_001958.3(EEF1A2):c.336A>G (p.Ala112=) http://identifiers.org/clinvar/378778 ^@ NM_000548.4(TSC2):c.1443+15G>A http://identifiers.org/clinvar/386467 ^@ NM_173630.3(RTTN):c.220-12T>C http://identifiers.org/clinvar/382718 ^@ NM_000548.4(TSC2):c.1626C>A (p.Pro542=) http://identifiers.org/clinvar/384628 ^@ NM_001958.3(EEF1A2):c.279C>T (p.Pro93=) http://identifiers.org/clinvar/380903 ^@ NM_001958.3(EEF1A2):c.207C>T (p.Arg69=) http://identifiers.org/clinvar/385217 ^@ NM_001958.3(EEF1A2):c.54C>G (p.Ser18=) http://identifiers.org/clinvar/391660 ^@ NM_000548.4(TSC2):c.1716+15C>T http://identifiers.org/clinvar/382665 ^@ NM_000548.4(TSC2):c.1815A>G (p.Pro605=) http://identifiers.org/clinvar/385710 ^@ NM_000548.4(TSC2):c.1868C>T (p.Ala623Val) http://identifiers.org/clinvar/392400 ^@ NM_004715.4(CTDP1):c.1042C>T (p.Arg348Ter) http://identifiers.org/clinvar/377917 ^@ NM_000159.3(GCDH):c.395G>A (p.Arg132Gln) http://identifiers.org/clinvar/385460 ^@ NM_000159.3(GCDH):c.531C>T (p.Phe177=) http://identifiers.org/clinvar/378783 ^@ NM_000548.4(TSC2):c.1946+15G>A http://identifiers.org/clinvar/380625 ^@ NM_021074.4(NDUFV2):c.-13A>G http://identifiers.org/clinvar/378784 ^@ NM_000548.4(TSC2):c.1946+20C>T http://identifiers.org/clinvar/377791 ^@ NM_001130823.2(DNMT1):c.4773+18C>T http://identifiers.org/clinvar/391102 ^@ NM_000159.3(GCDH):c.738G>A (p.Ser246=) http://identifiers.org/clinvar/382144 ^@ NM_001958.3(EEF1A2):c.-72+8C>A http://identifiers.org/clinvar/379529 ^@ NM_000159.3(GCDH):c.937C>T (p.Arg313Trp) http://identifiers.org/clinvar/384174 ^@ NM_025219.2(DNAJC5):c.-12+12G>T http://identifiers.org/clinvar/381077 ^@ NM_001130823.2(DNMT1):c.4116-9C>T http://identifiers.org/clinvar/390639 ^@ NM_025219.2(DNAJC5):c.66G>A (p.Leu22=) http://identifiers.org/clinvar/382438 ^@ NM_000159.3(GCDH):c.1143C>T (p.Ile381=) http://identifiers.org/clinvar/379878 ^@ NM_000159.3(GCDH):c.1156C>G (p.Arg386Gly) http://identifiers.org/clinvar/390170 ^@ NM_025219.2(DNAJC5):c.189G>A (p.Ala63=) http://identifiers.org/clinvar/387879 ^@ NM_025219.2(DNAJC5):c.321+9G>A http://identifiers.org/clinvar/381508 ^@ NM_025219.2(DNAJC5):c.321+14G>A http://identifiers.org/clinvar/387159 ^@ NM_000159.3(GCDH):c.1209C>T (p.His403=) http://identifiers.org/clinvar/386462 ^@ NM_001130823.2(DNMT1):c.1116C>T (p.Cys372=) http://identifiers.org/clinvar/386429 ^@ NM_000159.3(GCDH):c.1305G>A (p.Thr435=) http://identifiers.org/clinvar/377786 ^@ NM_001130823.2(DNMT1):c.117+19T>C http://identifiers.org/clinvar/379586 ^@ NM_025219.2(DNAJC5):c.322-5C>A http://identifiers.org/clinvar/380047 ^@ NM_000159.3(GCDH):c.*206G>A http://identifiers.org/clinvar/383285 ^@ NM_001031734.3(FDX1L):c.15C>A (p.Ala5=) http://identifiers.org/clinvar/380251 ^@ NM_000548.4(TSC2):c.2028C>T (p.Gly676=) http://identifiers.org/clinvar/388859 ^@ NM_000548.4(TSC2):c.2098-6T>C http://identifiers.org/clinvar/378839 ^@ NM_003331.4(TYK2):c.1960-15G>A http://identifiers.org/clinvar/381732 ^@ NM_000548.4(TSC2):c.2220+4C>G http://identifiers.org/clinvar/392722 ^@ NM_033409.3(SLC52A3):c.1223G>A (p.Gly408Asp) http://identifiers.org/clinvar/386564 ^@ NM_000548.4(TSC2):c.2511C>G (p.Ala837=) http://identifiers.org/clinvar/390624 ^@ NM_003331.4(TYK2):c.1670-19A>G http://identifiers.org/clinvar/388099 ^@ NM_001271043.2(NFIX):c.210C>G (p.Gly70=) http://identifiers.org/clinvar/387024 ^@ NM_001127221.1(CACNA1A):c.6587G>A (p.Arg2196Gln) http://identifiers.org/clinvar/390535 ^@ NM_000548.4(TSC2):c.2583C>T (p.Ala861=) http://identifiers.org/clinvar/380806 ^@ NM_001127221.1(CACNA1A):c.6530-16C>T http://identifiers.org/clinvar/392047 ^@ NM_001127221.1(CACNA1A):c.6220G>A (p.Asp2074Asn) http://identifiers.org/clinvar/389612 ^@ NM_003331.4(TYK2):c.1011+12G>A http://identifiers.org/clinvar/387548 ^@ NM_001005360.2(DNM2):c.386-6T>A http://identifiers.org/clinvar/387194 ^@ NM_000548.4(TSC2):c.2610C>T (p.Ala870=) http://identifiers.org/clinvar/384424 ^@ NM_000548.4(TSC2):c.2640-10C>G http://identifiers.org/clinvar/388971 ^@ NM_000219.5(KCNE1):c.-118A>C http://identifiers.org/clinvar/382721 ^@ NM_001005360.2(DNM2):c.1336-1085C>T http://identifiers.org/clinvar/391434 ^@ NM_001005360.2(DNM2):c.1518G>C (p.Leu506=) http://identifiers.org/clinvar/379040 ^@ NM_000219.5(KCNE1):c.-162+13G>A http://identifiers.org/clinvar/391042 ^@ NM_000411.6(HLCS):c.981A>G (p.Glu327=) http://identifiers.org/clinvar/389808 ^@ NM_000548.4(TSC2):c.2743-9C>T http://identifiers.org/clinvar/388525 ^@ NM_001005360.2(DNM2):c.1782-5C>T http://identifiers.org/clinvar/385307 ^@ NM_001127221.1(CACNA1A):c.5990C>T (p.Thr1997Met) http://identifiers.org/clinvar/383616 ^@ NM_001396.4(DYRK1A):c.11-15C>G http://identifiers.org/clinvar/381583 ^@ NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) http://identifiers.org/clinvar/388788 ^@ NM_001005360.2(DNM2):c.1893+10C>T http://identifiers.org/clinvar/391329 ^@ NM_001127221.1(CACNA1A):c.5760C>T (p.Asp1920=) http://identifiers.org/clinvar/385420 ^@ NM_001005360.2(DNM2):c.1893+17C>T http://identifiers.org/clinvar/388681 ^@ NM_001127221.1(CACNA1A):c.5734+20G>A http://identifiers.org/clinvar/382661 ^@ NM_001396.4(DYRK1A):c.261C>T (p.Asp87=) http://identifiers.org/clinvar/379256 ^@ NM_000548.4(TSC2):c.3131+2T>A http://identifiers.org/clinvar/384036 ^@ NM_001127221.1(CACNA1A):c.5653G>A (p.Val1885Ile) http://identifiers.org/clinvar/380632 ^@ NM_001128849.1(SMARCA4):c.222+18C>T http://identifiers.org/clinvar/383347 ^@ NM_001396.4(DYRK1A):c.831G>A (p.Ala277=) http://identifiers.org/clinvar/382882 ^@ NM_000548.4(TSC2):c.3284+20C>T http://identifiers.org/clinvar/381574 ^@ NM_001396.4(DYRK1A):c.932C>T (p.Ser311Phe) http://identifiers.org/clinvar/388543 ^@ NM_001128849.1(SMARCA4):c.1593+14T>A http://identifiers.org/clinvar/383473 ^@ NM_001396.4(DYRK1A):c.1066A>G (p.Thr356Ala) http://identifiers.org/clinvar/391821 ^@ NM_001128849.1(SMARCA4):c.2994C>T (p.Cys998=) http://identifiers.org/clinvar/383670 ^@ NM_001127221.1(CACNA1A):c.5471T>C (p.Leu1824Pro) http://identifiers.org/clinvar/389312 ^@ NM_001127221.1(CACNA1A):c.5418T>C (p.Phe1806=) http://identifiers.org/clinvar/392564 ^@ NM_001396.4(DYRK1A):c.1428C>T (p.His476=) http://identifiers.org/clinvar/392702 ^@ NM_001127221.1(CACNA1A):c.5403+18G>A http://identifiers.org/clinvar/392440 ^@ NM_001396.4(DYRK1A):c.1547-9A>G http://identifiers.org/clinvar/388948 ^@ NM_000548.4(TSC2):c.3815-18C>A http://identifiers.org/clinvar/387203 ^@ NM_001127221.1(CACNA1A):c.4929C>T (p.Thr1643=) http://identifiers.org/clinvar/393096 ^@ NM_001127221.1(CACNA1A):c.4839T>G (p.Cys1613Trp) http://identifiers.org/clinvar/387352 ^@ NM_001128849.1(SMARCA4):c.3168+13C>T http://identifiers.org/clinvar/385893 ^@ NM_001127221.1(CACNA1A):c.4647G>A (p.Pro1549=) http://identifiers.org/clinvar/380401 ^@ NM_000548.4(TSC2):c.3818C>T (p.Ala1273Val) http://identifiers.org/clinvar/384143 ^@ NM_001396.4(DYRK1A):c.1566C>T (p.Ser522=) http://identifiers.org/clinvar/385700 ^@ NM_001396.4(DYRK1A):c.1635C>T (p.Ala545=) http://identifiers.org/clinvar/389107 ^@ NM_001396.4(DYRK1A):c.1920C>T (p.Ser640=) http://identifiers.org/clinvar/389877 ^@ NM_001128849.1(SMARCA4):c.4532G>A (p.Arg1511His) http://identifiers.org/clinvar/387467 ^@ NM_001127221.1(CACNA1A):c.4629G>A (p.Pro1543=) http://identifiers.org/clinvar/384147 ^@ NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) http://identifiers.org/clinvar/389926 ^@ NM_001128849.1(SMARCA4):c.*9A>T http://identifiers.org/clinvar/386872 ^@ NM_000548.4(TSC2):c.4167C>G (p.Pro1389=) http://identifiers.org/clinvar/377631 ^@ NM_000071.2(CBS):c.*34G>A http://identifiers.org/clinvar/389175 ^@ NM_001128849.1(SMARCA4):c.*19C>T http://identifiers.org/clinvar/378791 ^@ NM_000548.4(TSC2):c.4602C>T (p.Leu1534=) http://identifiers.org/clinvar/389020 ^@ NM_000548.4(TSC2):c.4684C>T (p.Leu1562=) http://identifiers.org/clinvar/386981 ^@ NM_001127221.1(CACNA1A):c.3612G>A (p.Glu1204=) http://identifiers.org/clinvar/383932 ^@ NM_000455.4(STK11):c.-11C>T http://identifiers.org/clinvar/385458 ^@ NM_000455.4(STK11):c.-10T>G http://identifiers.org/clinvar/390106 ^@ NM_001127221.1(CACNA1A):c.3492C>T (p.Pro1164=) http://identifiers.org/clinvar/380605 ^@ NM_000455.4(STK11):c.163C>T (p.Leu55=) http://identifiers.org/clinvar/378675 ^@ NM_000455.4(STK11):c.290+15C>T http://identifiers.org/clinvar/386724 ^@ NM_001127221.1(CACNA1A):c.3165G>A (p.Leu1055=) http://identifiers.org/clinvar/382536 ^@ NM_000548.4(TSC2):c.4849+3A>G http://identifiers.org/clinvar/383435 ^@ NM_001127221.1(CACNA1A):c.2856G>A (p.Ala952=) http://identifiers.org/clinvar/392677 ^@ NM_000071.2(CBS):c.*28G>A http://identifiers.org/clinvar/391576 ^@ NM_000548.4(TSC2):c.4917C>T (p.Arg1639=) http://identifiers.org/clinvar/386004 ^@ NM_001127221.1(CACNA1A):c.2847C>G (p.Arg949=) http://identifiers.org/clinvar/386938 ^@ NM_000455.4(STK11):c.465-20C>T http://identifiers.org/clinvar/387697 ^@ NM_000455.4(STK11):c.544C>T (p.Leu182=) http://identifiers.org/clinvar/385591 ^@ NM_000455.4(STK11):c.726G>A (p.Gly242=) http://identifiers.org/clinvar/383050 ^@ NM_000455.4(STK11):c.863-17C>T http://identifiers.org/clinvar/380761 ^@ NM_000071.2(CBS):c.1626C>T (p.Phe542=) http://identifiers.org/clinvar/387032 ^@ NM_000071.2(CBS):c.1553-16C>T http://identifiers.org/clinvar/387779 ^@ NM_000071.2(CBS):c.1500G>A (p.Ser500=) http://identifiers.org/clinvar/379819 ^@ NM_000548.4(TSC2):c.5069-2A>C http://identifiers.org/clinvar/387396 ^@ NM_000071.2(CBS):c.1223+16C>G http://identifiers.org/clinvar/387753 ^@ NM_000548.4(TSC2):c.5355A>G (p.Thr1785=) http://identifiers.org/clinvar/391444 ^@ NM_000071.2(CBS):c.1125C>T (p.Pro375=) http://identifiers.org/clinvar/380999 ^@ NM_000071.2(CBS):c.451+20G>A http://identifiers.org/clinvar/387665 ^@ NM_001127221.1(CACNA1A):c.2757C>T (p.Gly919=) http://identifiers.org/clinvar/377757 ^@ NM_000100.3(CSTB):c.*7C>G http://identifiers.org/clinvar/380326 ^@ NM_000548.4(TSC2):c.5370G>C (p.Val1790=) http://identifiers.org/clinvar/392763 ^@ NM_001127221.1(CACNA1A):c.2048G>T (p.Gly683Val) http://identifiers.org/clinvar/383243 ^@ NM_001127221.1(CACNA1A):c.1892T>C (p.Leu631Ser) http://identifiers.org/clinvar/382893 ^@ NM_001127221.1(CACNA1A):c.1785-20C>T http://identifiers.org/clinvar/382295 ^@ NM_000100.3(CSTB):c.45G>A (p.Glu15=) http://identifiers.org/clinvar/386857 ^@ NM_001127221.1(CACNA1A):c.1293A>G (p.Thr431=) http://identifiers.org/clinvar/385320 ^@ NM_000455.4(STK11):c.921-4G>A http://identifiers.org/clinvar/391461 ^@ NM_001127221.1(CACNA1A):c.903C>T (p.Phe301=) http://identifiers.org/clinvar/381472 ^@ NM_000548.4(TSC2):c.5384G>A (p.Arg1795His) http://identifiers.org/clinvar/388334 ^@ NM_001127221.1(CACNA1A):c.539+17A>G http://identifiers.org/clinvar/379639 ^@ NM_000548.4(TSC2):c.*7G>A http://identifiers.org/clinvar/387523 ^@ NM_001009944.2(PKD1):c.11656C>A (p.Arg3886Ser) http://identifiers.org/clinvar/381477 ^@ NM_001009944.2(PKD1):c.7636C>T (p.His2546Tyr) http://identifiers.org/clinvar/385128 ^@ NM_001127221.1(CACNA1A):c.294-6C>T http://identifiers.org/clinvar/382158 ^@ NM_000455.4(STK11):c.1002C>T (p.Ser334=) http://identifiers.org/clinvar/387721 ^@ NM_001009944.2(PKD1):c.5501A>G (p.Asn1834Ser) http://identifiers.org/clinvar/384017 ^@ NM_000100.3(CSTB):c.-47G>T http://identifiers.org/clinvar/386949 ^@ NM_001848.2(COL6A1):c.510G>A (p.Gly170=) http://identifiers.org/clinvar/378255 ^@ NM_024407.4(NDUFS7):c.53+20G>C http://identifiers.org/clinvar/380198 ^@ NM_000455.4(STK11):c.1109-15C>A http://identifiers.org/clinvar/379510 ^@ NM_001848.2(COL6A1):c.957G>T (p.Lys319Asn) http://identifiers.org/clinvar/384402 ^@ NM_001848.2(COL6A1):c.1462-19G>A http://identifiers.org/clinvar/388813 ^@ NM_000455.4(STK11):c.1109-13G>T http://identifiers.org/clinvar/390007 ^@ NM_003366.3(UQCRC2):c.-22T>C http://identifiers.org/clinvar/378681 ^@ NM_000455.4(STK11):c.*11C>T http://identifiers.org/clinvar/386876 ^@ NM_001849.3(COL6A2):c.2422+7G>T http://identifiers.org/clinvar/382415 ^@ NM_024407.4(NDUFS7):c.354C>T (p.Asp118=) http://identifiers.org/clinvar/388272 ^@ NM_024407.4(NDUFS7):c.*17G>A http://identifiers.org/clinvar/380582 ^@ NM_003366.3(UQCRC2):c.548G>A (p.Arg183Gln) http://identifiers.org/clinvar/379090 ^@ NM_000156.5(GAMT):c.570+241G>C http://identifiers.org/clinvar/387755 ^@ NM_003366.3(UQCRC2):c.582C>T (p.Asp194=) http://identifiers.org/clinvar/386259 ^@ NM_000156.5(GAMT):c.459+17T>C http://identifiers.org/clinvar/380590 ^@ NM_003366.3(UQCRC2):c.761G>A (p.Arg254His) http://identifiers.org/clinvar/377908 ^@ NM_000156.5(GAMT):c.153C>T (p.His51=) http://identifiers.org/clinvar/379536 ^@ NM_173483.3(CYP4F22):c.1084C>T (p.Arg362Ter) http://identifiers.org/clinvar/389024 ^@ NM_003366.3(UQCRC2):c.967-9A>G http://identifiers.org/clinvar/384401 ^@ NM_006031.5(PCNT):c.2458C>T (p.Arg820Cys) http://identifiers.org/clinvar/383500 ^@ NM_133644.3(GTPBP3):c.115C>T (p.Leu39=) http://identifiers.org/clinvar/383083 ^@ NM_006031.5(PCNT):c.3108C>T (p.Thr1036=) http://identifiers.org/clinvar/381445 ^@ NM_003366.3(UQCRC2):c.1048-7G>C http://identifiers.org/clinvar/391791 ^@ NM_133644.3(GTPBP3):c.321T>C (p.Gly107=) http://identifiers.org/clinvar/378329 ^@ NM_006031.5(PCNT):c.6645G>A (p.Pro2215=) http://identifiers.org/clinvar/380068 ^@ NM_133644.3(GTPBP3):c.592-5G>T http://identifiers.org/clinvar/385153 ^@ NM_153603.3(COG7):c.1137+11A>G http://identifiers.org/clinvar/377982 ^@ NM_000215.3(JAK3):c.2806-13C>T http://identifiers.org/clinvar/381388 ^@ NM_006031.5(PCNT):c.7059G>A (p.Pro2353=) http://identifiers.org/clinvar/391793 ^@ NM_153603.3(COG7):c.1089C>T (p.Gly363=) http://identifiers.org/clinvar/390413 ^@ NM_000215.3(JAK3):c.862-2A>G http://identifiers.org/clinvar/380482 ^@ NM_000215.3(JAK3):c.631A>C (p.Arg211=) http://identifiers.org/clinvar/388638 ^@ NM_153603.3(COG7):c.69C>T (p.Ala23=) http://identifiers.org/clinvar/388223 ^@ NM_006031.5(PCNT):c.9334C>T (p.Pro3112Ser) http://identifiers.org/clinvar/384315 ^@ NM_018943.2(TUBA8):c.-7G>C http://identifiers.org/clinvar/378587 ^@ NM_005984.4(SLC25A1):c.202+17C>A http://identifiers.org/clinvar/386924 ^@ NM_001083614.1(EARS2):c.1209C>T (p.Leu403=) http://identifiers.org/clinvar/391215 ^@ NM_005984.4(SLC25A1):c.94+19C>T http://identifiers.org/clinvar/386625 ^@ NM_000455.4(STK11):c.*16+8G>A http://identifiers.org/clinvar/388262 ^@ NM_001083614.1(EARS2):c.-14C>A http://identifiers.org/clinvar/378683 ^@ NM_000455.4(STK11):c.*16+16G>C http://identifiers.org/clinvar/388087 ^@ NM_000455.4(STK11):c.*16+18C>T http://identifiers.org/clinvar/390708 ^@ NM_024675.3(PALB2):c.3432C>G (p.Leu1144=) http://identifiers.org/clinvar/381092 ^@ NM_000215.3(JAK3):c.48C>T (p.Cys16=) http://identifiers.org/clinvar/385592 ^@ NM_000455.4(STK11):c.*17-14C>T http://identifiers.org/clinvar/391935 ^@ NM_024675.3(PALB2):c.3351-9T>C http://identifiers.org/clinvar/382164 ^@ NM_024675.3(PALB2):c.3201+10G>A http://identifiers.org/clinvar/383460 ^@ NM_004750.4(CRLF1):c.266G>A (p.Arg89His) http://identifiers.org/clinvar/384662 ^@ NM_024675.3(PALB2):c.3113+11C>T http://identifiers.org/clinvar/379870 ^@ NM_024675.3(PALB2):c.2993G>C (p.Gly998Ala) http://identifiers.org/clinvar/381531 ^@ NM_000479.4(AMH):c.974A>G (p.Gln325Arg) http://identifiers.org/clinvar/382742 ^@ NM_001271043.2(NFIX):c.722-12C>T http://identifiers.org/clinvar/390061 ^@ NM_024675.3(PALB2):c.2901A>G (p.Lys967=) http://identifiers.org/clinvar/383246 ^@ NM_001127221.1(CACNA1A):c.6734G>A (p.Arg2245His) http://identifiers.org/clinvar/380881 ^@ NM_001031726.3(C19orf12):c.446A>G (p.Gln149Arg) http://identifiers.org/clinvar/389609 ^@ NM_001031726.3(C19orf12):c.24-5C>T http://identifiers.org/clinvar/378520 ^@ NM_001037.4(SCN1B):c.63C>T (p.Cys21=) http://identifiers.org/clinvar/384949 ^@ NM_001127221.1(CACNA1A):c.6375A>G (p.Ser2125=) http://identifiers.org/clinvar/378320 ^@ NM_024675.3(PALB2):c.2880A>G (p.Leu960=) http://identifiers.org/clinvar/389239 ^@ NM_080647.1(TBX1):c.546G>A (p.Ala182=) http://identifiers.org/clinvar/384743 ^@ NM_080647.1(TBX1):c.813C>T (p.Thr271=) http://identifiers.org/clinvar/388873 ^@ NM_053004.2(GNB1L):c.836T>C (p.Val279Ala) http://identifiers.org/clinvar/381294 ^@ NM_024675.3(PALB2):c.2514+18T>G http://identifiers.org/clinvar/384633 ^@ NM_001127221.1(CACNA1A):c.6342+11C>T http://identifiers.org/clinvar/391941 ^@ NM_024675.3(PALB2):c.2319T>G (p.Thr773=) http://identifiers.org/clinvar/391133 ^@ NM_006440.4(TXNRD2):c.1497A>G (p.Thr499=) http://identifiers.org/clinvar/387545 ^@ NM_001037.4(SCN1B):c.192T>C (p.Thr64=) http://identifiers.org/clinvar/386545 ^@ NM_024675.3(PALB2):c.1971G>A (p.Glu657=) http://identifiers.org/clinvar/386310 ^@ NM_001127221.1(CACNA1A):c.6163G>A (p.Asp2055Asn) http://identifiers.org/clinvar/385597 ^@ NM_024675.3(PALB2):c.1812G>A (p.Leu604=) http://identifiers.org/clinvar/386789 ^@ NM_001037.4(SCN1B):c.207+13C>T http://identifiers.org/clinvar/390776 ^@ NM_006440.4(TXNRD2):c.1276-15G>A http://identifiers.org/clinvar/389670 ^@ NM_006440.4(TXNRD2):c.1176C>T (p.Tyr392=) http://identifiers.org/clinvar/382860 ^@ NM_001127221.1(CACNA1A):c.6129G>A (p.Thr2043=) http://identifiers.org/clinvar/386521 ^@ NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met) http://identifiers.org/clinvar/392163 ^@ NM_006440.4(TXNRD2):c.816C>T (p.Gly272=) http://identifiers.org/clinvar/386110 ^@ NM_001127221.1(CACNA1A):c.5943+18C>G http://identifiers.org/clinvar/392373 ^@ NM_006440.4(TXNRD2):c.760C>T (p.Arg254Cys) http://identifiers.org/clinvar/378317 ^@ NM_024675.3(PALB2):c.1611G>A (p.Ser537=) http://identifiers.org/clinvar/392835 ^@ NM_006440.4(TXNRD2):c.449+4C>T http://identifiers.org/clinvar/388688 ^@ NM_001127221.1(CACNA1A):c.5531+16G>A http://identifiers.org/clinvar/392712 ^@ NM_001037.4(SCN1B):c.248A>T (p.Asp83Val) http://identifiers.org/clinvar/379275 ^@ NM_001037.4(SCN1B):c.448+30G>A http://identifiers.org/clinvar/389764 ^@ NM_006440.4(TXNRD2):c.374+17G>A http://identifiers.org/clinvar/380278 ^@ NM_001037.4(SCN1B):c.594G>A (p.Ser198=) http://identifiers.org/clinvar/389375 ^@ NM_001037.4(SCN1B):c.*23A>G http://identifiers.org/clinvar/391674 ^@ NM_024675.3(PALB2):c.1497G>A (p.Leu499=) http://identifiers.org/clinvar/390293 ^@ NM_001127221.1(CACNA1A):c.5397G>A (p.Ser1799=) http://identifiers.org/clinvar/379622 ^@ NM_024675.3(PALB2):c.1424C>A (p.Ser475Ter) http://identifiers.org/clinvar/377750 ^@ NM_001863.4(COX6B1):c.107-16A>G http://identifiers.org/clinvar/392251 ^@ NM_152906.6(TANGO2):c.32G>A (p.Arg11His) http://identifiers.org/clinvar/388046 ^@ NM_001127221.1(CACNA1A):c.5137-20G>A http://identifiers.org/clinvar/379653 ^@ NM_006767.3(LZTR1):c.2160C>T (p.Phe720=) http://identifiers.org/clinvar/379423 ^@ NM_006767.3(LZTR1):c.2253C>T (p.Phe751=) http://identifiers.org/clinvar/385913 ^@ NM_001127221.1(CACNA1A):c.4870-8C>T http://identifiers.org/clinvar/379951 ^@ NM_213720.2(CHCHD10):c.48A>C (p.Pro16=) http://identifiers.org/clinvar/392473 ^@ NM_004076.4(CRYBB3):c.329A>G (p.Asp110Gly) http://identifiers.org/clinvar/384394 ^@ NM_001083961.1(WDR62):c.4105C>A (p.Arg1369=) http://identifiers.org/clinvar/391585 ^@ NM_000540.2(RYR1):c.1673-11C>T http://identifiers.org/clinvar/382713 ^@ NM_024675.3(PALB2):c.903T>C (p.Asp301=) http://identifiers.org/clinvar/383094 ^@ NM_001127221.1(CACNA1A):c.4809C>T (p.Ile1603=) http://identifiers.org/clinvar/386503 ^@ NM_024675.3(PALB2):c.832C>T (p.Leu278=) http://identifiers.org/clinvar/383682 ^@ NM_001199107.1(TBC1D24):c.-121G>A http://identifiers.org/clinvar/388222 ^@ NM_000540.2(RYR1):c.2292G>A (p.Gln764=) http://identifiers.org/clinvar/387306 ^@ NM_001127221.1(CACNA1A):c.4758+12A>C http://identifiers.org/clinvar/385066 ^@ NM_001127221.1(CACNA1A):c.4413C>T (p.Asp1471=) http://identifiers.org/clinvar/386940 ^@ NM_007194.3(CHEK2):c.*16C>T http://identifiers.org/clinvar/388136 ^@ NM_007194.3(CHEK2):c.1590C>G (p.Ala530=) http://identifiers.org/clinvar/387229 ^@ NM_001199107.1(TBC1D24):c.-116+13G>C http://identifiers.org/clinvar/382259 ^@ NM_007194.3(CHEK2):c.1500T>C (p.Ser500=) http://identifiers.org/clinvar/391309 ^@ NM_001127221.1(CACNA1A):c.4391+19A>G http://identifiers.org/clinvar/391687 ^@ NM_001199107.1(TBC1D24):c.121C>T (p.Gln41Ter) http://identifiers.org/clinvar/390666 ^@ NM_000540.2(RYR1):c.2601G>A (p.Glu867=) http://identifiers.org/clinvar/384295 ^@ NM_000540.2(RYR1):c.3312G>A (p.Ala1104=) http://identifiers.org/clinvar/378701 ^@ NM_001199107.1(TBC1D24):c.243C>T (p.Ile81=) http://identifiers.org/clinvar/380771 ^@ NM_001127221.1(CACNA1A):c.3992+16A>G http://identifiers.org/clinvar/391688 ^@ NM_001199107.1(TBC1D24):c.321T>A (p.Asn107Lys) http://identifiers.org/clinvar/388795 ^@ NM_007194.3(CHEK2):c.1368A>T (p.Ser456=) http://identifiers.org/clinvar/389708 ^@ NM_000540.2(RYR1):c.3441C>T (p.Val1147=) http://identifiers.org/clinvar/387282 ^@ NM_001199107.1(TBC1D24):c.948C>T (p.Ile316=) http://identifiers.org/clinvar/380328 ^@ NM_001199107.1(TBC1D24):c.1022G>A (p.Arg341His) http://identifiers.org/clinvar/390385 ^@ NM_007194.3(CHEK2):c.1259+7A>G http://identifiers.org/clinvar/378705 ^@ NM_001199107.1(TBC1D24):c.1142+17C>A http://identifiers.org/clinvar/386583 ^@ NM_000540.2(RYR1):c.6549-9C>T http://identifiers.org/clinvar/384638 ^@ NM_001199107.1(TBC1D24):c.1482C>G (p.Thr494=) http://identifiers.org/clinvar/389106 ^@ NM_001127221.1(CACNA1A):c.3886-15T>C http://identifiers.org/clinvar/387525 ^@ NM_007194.3(CHEK2):c.1095+8A>G http://identifiers.org/clinvar/387805 ^@ NM_000540.2(RYR1):c.8616+18T>C http://identifiers.org/clinvar/392711 ^@ NM_007194.3(CHEK2):c.955C>T (p.Leu319=) http://identifiers.org/clinvar/390667 ^@ NM_000540.2(RYR1):c.9090C>T (p.His3030=) http://identifiers.org/clinvar/385466 ^@ NM_001127221.1(CACNA1A):c.3885+13T>C http://identifiers.org/clinvar/377659 ^@ NM_007194.3(CHEK2):c.908+10A>G http://identifiers.org/clinvar/392746 ^@ NM_000540.2(RYR1):c.11985C>T (p.Phe3995=) http://identifiers.org/clinvar/393165 ^@ NM_001127221.1(CACNA1A):c.3730C>T (p.Arg1244Cys) http://identifiers.org/clinvar/384003 ^@ NM_000540.2(RYR1):c.14091C>T (p.Asp4697=) http://identifiers.org/clinvar/379316 ^@ NM_007194.3(CHEK2):c.823G>T (p.Glu275Ter) http://identifiers.org/clinvar/383572 ^@ NM_007194.3(CHEK2):c.793-17T>C http://identifiers.org/clinvar/388238 ^@ NM_007194.3(CHEK2):c.593-9C>G http://identifiers.org/clinvar/387916 ^@ NM_017827.3(SARS2):c.342T>A (p.Thr114=) http://identifiers.org/clinvar/384872 ^@ NM_001127221.1(CACNA1A):c.3695+20A>G http://identifiers.org/clinvar/384324 ^@ NM_007194.3(CHEK2):c.593-15T>A http://identifiers.org/clinvar/385379 ^@ NM_001127221.1(CACNA1A):c.3532C>A (p.Pro1178Thr) http://identifiers.org/clinvar/388427 ^@ NM_001042432.1(CLN3):c.1198-17G>A http://identifiers.org/clinvar/386780 ^@ NM_016941.3(DLL3):c.543T>C (p.Pro181=) http://identifiers.org/clinvar/377656 ^@ NM_007194.3(CHEK2):c.444+20G>T http://identifiers.org/clinvar/385634 ^@ NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) http://identifiers.org/clinvar/382666 ^@ NM_001042432.1(CLN3):c.1150C>T (p.Leu384=) http://identifiers.org/clinvar/389170 ^@ NM_007194.3(CHEK2):c.-6-20T>C http://identifiers.org/clinvar/379731 ^@ NM_007194.3(CHEK2):c.-7+8A>G http://identifiers.org/clinvar/382311 ^@ NM_007194.3(CHEK2):c.-32T>C http://identifiers.org/clinvar/392867 ^@ NM_001127221.1(CACNA1A):c.3122C>T (p.Ser1041Leu) http://identifiers.org/clinvar/380469 ^@ NM_016941.3(DLL3):c.674G>A (p.Ser225Asn) http://identifiers.org/clinvar/378915 ^@ NM_001042432.1(CLN3):c.882C>T (p.Ala294=) http://identifiers.org/clinvar/387025 ^@ NM_001127221.1(CACNA1A):c.2963G>C (p.Arg988Pro) http://identifiers.org/clinvar/387542 ^@ NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) http://identifiers.org/clinvar/385370 ^@ NM_001127221.1(CACNA1A):c.2760G>A (p.Glu920=) http://identifiers.org/clinvar/392521 ^@ NM_001042432.1(CLN3):c.861C>T (p.Pro287=) http://identifiers.org/clinvar/386972 ^@ NM_181882.2(PRX):c.2967C>G (p.Leu989=) http://identifiers.org/clinvar/382325 ^@ NM_012179.3(FBXO7):c.1530C>T (p.Ser510=) http://identifiers.org/clinvar/393025 ^@ NM_001127221.1(CACNA1A):c.2658A>G (p.Gly886=) http://identifiers.org/clinvar/392594 ^@ NM_001127221.1(CACNA1A):c.2620G>C (p.Gly874Arg) http://identifiers.org/clinvar/392460 ^@ NM_004737.5(LARGE1):c.-92C>T http://identifiers.org/clinvar/381401 ^@ NM_181882.2(PRX):c.2268G>A (p.Pro756=) http://identifiers.org/clinvar/378454 ^@ NM_002872.4(RAC2):c.252C>T (p.Leu84=) http://identifiers.org/clinvar/385371 ^@ NM_001127221.1(CACNA1A):c.2524G>T (p.Ala842Ser) http://identifiers.org/clinvar/391698 ^@ NM_001042432.1(CLN3):c.814C>T (p.Arg272Trp) http://identifiers.org/clinvar/389423 ^@ NM_001042432.1(CLN3):c.791-6C>T http://identifiers.org/clinvar/378453 ^@ NM_002872.4(RAC2):c.35+16G>A http://identifiers.org/clinvar/387483 ^@ NM_181882.2(PRX):c.1725G>A (p.Pro575=) http://identifiers.org/clinvar/384266 ^@ NM_001042432.1(CLN3):c.-91C>G http://identifiers.org/clinvar/386230 ^@ NM_181882.2(PRX):c.445G>A (p.Ala149Thr) http://identifiers.org/clinvar/385996 ^@ NM_173201.3(ATP2A1):c.245A>G (p.Glu82Gly) http://identifiers.org/clinvar/387225 ^@ NM_001127221.1(CACNA1A):c.2438G>A (p.Arg813Gln) http://identifiers.org/clinvar/384410 ^@ NM_173201.3(ATP2A1):c.1167C>T (p.Tyr389=) http://identifiers.org/clinvar/390307 ^@ NM_001127221.1(CACNA1A):c.2176-11G>A http://identifiers.org/clinvar/392062 ^@ NM_003573.2(LTBP4):c.884-18C>A http://identifiers.org/clinvar/379331 ^@ NM_002608.3(PDGFB):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/391137 ^@ NM_003573.2(LTBP4):c.3561G>A (p.Pro1187=) http://identifiers.org/clinvar/387296 ^@ NM_173201.3(ATP2A1):c.2634G>A (p.Glu878=) http://identifiers.org/clinvar/384846 ^@ NM_173201.3(ATP2A1):c.2862+15G>A http://identifiers.org/clinvar/390226 ^@ NM_001127221.1(CACNA1A):c.1990-16C>A http://identifiers.org/clinvar/388567 ^@ NM_145239.2(PRRT2):c.-58C>T http://identifiers.org/clinvar/383530 ^@ NM_145239.2(PRRT2):c.912C>T (p.Asp304=) http://identifiers.org/clinvar/389385 ^@ NM_003573.2(LTBP4):c.3922+8C>T http://identifiers.org/clinvar/380448 ^@ NM_024876.3(COQ8B):c.1578C>T (p.Asp526=) http://identifiers.org/clinvar/380908 ^@ NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) http://identifiers.org/clinvar/382582 ^@ NM_000034.3(ALDOA):c.-975C>T http://identifiers.org/clinvar/388210 ^@ NM_000026.3(ADSL):c.-37C>G http://identifiers.org/clinvar/382430 ^@ NM_000034.3(ALDOA):c.-923-4C>G http://identifiers.org/clinvar/392083 ^@ NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) http://identifiers.org/clinvar/383901 ^@ NM_024876.3(COQ8B):c.718-8C>G http://identifiers.org/clinvar/387831 ^@ NM_001127221.1(CACNA1A):c.1308C>T (p.Pro436=) http://identifiers.org/clinvar/389402 ^@ NM_000034.3(ALDOA):c.-22+11A>C http://identifiers.org/clinvar/383167 ^@ NM_001127221.1(CACNA1A):c.1230C>T (p.Asp410=) http://identifiers.org/clinvar/382578 ^@ NM_000034.3(ALDOA):c.249A>G (p.Thr83=) http://identifiers.org/clinvar/388822 ^@ NM_001127221.1(CACNA1A):c.1083-11T>C http://identifiers.org/clinvar/383132 ^@ NM_000026.3(ADSL):c.32A>T (p.Asp11Val) http://identifiers.org/clinvar/388686 ^@ NM_001127221.1(CACNA1A):c.539+14G>A http://identifiers.org/clinvar/389044 ^@ NM_024876.3(COQ8B):c.663G>T (p.Gly221=) http://identifiers.org/clinvar/386000 ^@ NM_001127221.1(CACNA1A):c.297C>T (p.Pro99=) http://identifiers.org/clinvar/379129 ^@ NM_000026.3(ADSL):c.253C>T (p.Arg85Ter) http://identifiers.org/clinvar/389237 ^@ NM_001127221.1(CACNA1A):c.117C>T (p.Gly39=) http://identifiers.org/clinvar/384632 ^@ NM_001127221.1(CACNA1A):c.-11C>T http://identifiers.org/clinvar/385014 ^@ NM_000034.3(ALDOA):c.324+17C>G http://identifiers.org/clinvar/384272 ^@ NM_000034.3(ALDOA):c.1020A>G (p.Gln340=) http://identifiers.org/clinvar/386381 ^@ NM_000026.3(ADSL):c.271C>T (p.His91Tyr) http://identifiers.org/clinvar/388729 ^@ NM_024407.4(NDUFS7):c.591G>C (p.Leu197=) http://identifiers.org/clinvar/379939 ^@ NM_024876.3(COQ8B):c.521A>G (p.His174Arg) http://identifiers.org/clinvar/386294 ^@ NM_024876.3(COQ8B):c.289+13T>C http://identifiers.org/clinvar/377910 ^@ NM_000156.5(GAMT):c.*2C>G http://identifiers.org/clinvar/378903 ^@ NM_030662.3(MAP2K2):c.919+10G>A http://identifiers.org/clinvar/388426 ^@ NM_000026.3(ADSL):c.406G>A (p.Ala136Thr) http://identifiers.org/clinvar/387949 ^@ NM_030662.3(MAP2K2):c.581-19C>T http://identifiers.org/clinvar/381253 ^@ NM_000026.3(ADSL):c.483-15T>C http://identifiers.org/clinvar/379104 ^@ NM_030662.3(MAP2K2):c.580+15G>A http://identifiers.org/clinvar/387486 ^@ NM_000026.3(ADSL):c.587G>A (p.Arg196Gln) http://identifiers.org/clinvar/386261 ^@ NM_000156.5(GAMT):c.585C>T (p.Pro195=) http://identifiers.org/clinvar/378103 ^@ NM_030662.3(MAP2K2):c.327G>A (p.Pro109=) http://identifiers.org/clinvar/381503 ^@ NM_000156.5(GAMT):c.460-9C>T http://identifiers.org/clinvar/379432 ^@ NM_007074.3(CORO1A):c.1065+14G>A http://identifiers.org/clinvar/382334 ^@ NM_000026.3(ADSL):c.926G>A (p.Arg309His) http://identifiers.org/clinvar/386639 ^@ NM_030662.3(MAP2K2):c.42C>T (p.Ile14=) http://identifiers.org/clinvar/381950 ^@ NM_000026.3(ADSL):c.1191+16T>C http://identifiers.org/clinvar/386805 ^@ NM_000156.5(GAMT):c.270G>A (p.Glu90=) http://identifiers.org/clinvar/385227 ^@ NM_000156.5(GAMT):c.181+16C>A http://identifiers.org/clinvar/377426 ^@ NM_001098.2(ACO2):c.432+19T>C http://identifiers.org/clinvar/382409 ^@ NM_001098.2(ACO2):c.685-16G>A http://identifiers.org/clinvar/389641 ^@ NM_030662.3(MAP2K2):c.-9G>A http://identifiers.org/clinvar/386353 ^@ NM_133644.3(GTPBP3):c.693G>A (p.Lys231=) http://identifiers.org/clinvar/386281 ^@ NM_000294.2(PHKG2):c.921G>T (p.Arg307=) http://identifiers.org/clinvar/391611 ^@ NM_025193.3(HSD3B7):c.652C>T (p.Arg218Trp) http://identifiers.org/clinvar/384248 ^@ NM_133644.3(GTPBP3):c.867C>T (p.Pro289=) http://identifiers.org/clinvar/389804 ^@ NM_000709.3(BCKDHA):c.336T>G (p.Leu112=) http://identifiers.org/clinvar/378133 ^@ NM_000243.2(MEFV):c.2292G>T (p.Gly764=) http://identifiers.org/clinvar/380184 ^@ NM_133644.3(GTPBP3):c.1199G>A (p.Arg400His) http://identifiers.org/clinvar/385402 ^@ NM_001098.2(ACO2):c.714C>T (p.Leu238=) http://identifiers.org/clinvar/378132 ^@ NM_000243.2(MEFV):c.1459G>C (p.Val487Leu) http://identifiers.org/clinvar/392469 ^@ NM_000243.2(MEFV):c.489G>T (p.Glu163Asp) http://identifiers.org/clinvar/379672 ^@ NM_000709.3(BCKDHA):c.996-18C>T http://identifiers.org/clinvar/380170 ^@ NM_133644.3(GTPBP3):c.1462C>T (p.Leu488=) http://identifiers.org/clinvar/389294 ^@ NM_000215.3(JAK3):c.1899C>T (p.Tyr633=) http://identifiers.org/clinvar/382992 ^@ NM_000709.3(BCKDHA):c.1032G>A (p.Ala344=) http://identifiers.org/clinvar/388351 ^@ NM_001098.2(ACO2):c.1032+17C>G http://identifiers.org/clinvar/383213 ^@ NM_004380.2(CREBBP):c.3889C>T (p.His1297Tyr) http://identifiers.org/clinvar/379578 ^@ NM_004380.2(CREBBP):c.2302C>T (p.Arg768Ter) http://identifiers.org/clinvar/386059 ^@ NM_000293.2(PHKB):c.282C>T (p.Ala94=) http://identifiers.org/clinvar/382381 ^@ NM_000293.2(PHKB):c.305+11G>A http://identifiers.org/clinvar/390494 ^@ NM_024301.4(FKRP):c.-253+14G>A http://identifiers.org/clinvar/386913 ^@ NM_001098.2(ACO2):c.1033-20T>C http://identifiers.org/clinvar/382468 ^@ NM_001098.2(ACO2):c.1033-9T>G http://identifiers.org/clinvar/390467 ^@ NM_000479.4(AMH):c.616G>C (p.Ala206Pro) http://identifiers.org/clinvar/385150 ^@ NM_001098.2(ACO2):c.2226C>T (p.Ile742=) http://identifiers.org/clinvar/388249 ^@ NM_018006.4(TRMU):c.83-11C>A http://identifiers.org/clinvar/389594 ^@ NM_000293.2(PHKB):c.1446G>A (p.Arg482=) http://identifiers.org/clinvar/391378 ^@ NM_018006.4(TRMU):c.429C>T (p.His143=) http://identifiers.org/clinvar/387761 ^@ NM_001031726.3(C19orf12):c.-18C>T http://identifiers.org/clinvar/384263 ^@ NM_000293.2(PHKB):c.1693-3C>T http://identifiers.org/clinvar/379366 ^@ NM_001037.4(SCN1B):c.-26G>C http://identifiers.org/clinvar/389010 ^@ NM_001037.4(SCN1B):c.258C>T (p.Phe86=) http://identifiers.org/clinvar/388875 ^@ NM_000293.2(PHKB):c.2766-14G>T http://identifiers.org/clinvar/391158 ^@ NM_024301.4(FKRP):c.-195A>G http://identifiers.org/clinvar/383668 ^@ NM_018006.4(TRMU):c.1193G>A (p.Arg398His) http://identifiers.org/clinvar/390147 ^@ NM_024301.4(FKRP):c.555C>T (p.Ala185=) http://identifiers.org/clinvar/378521 ^@ NM_001037.4(SCN1B):c.448+7C>T http://identifiers.org/clinvar/378522 ^@ NM_001037.4(SCN1B):c.448+8G>A http://identifiers.org/clinvar/385584 ^@ NM_019109.4(ALG1):c.286+15A>C http://identifiers.org/clinvar/385146 ^@ NM_024301.4(FKRP):c.621C>T (p.Leu207=) http://identifiers.org/clinvar/382126 ^@ NM_005138.2(SCO2):c.738G>A (p.Ser246=) http://identifiers.org/clinvar/384254 ^@ NM_019109.4(ALG1):c.334A>C (p.Met112Leu) http://identifiers.org/clinvar/384577 ^@ NM_001953.4(TYMP):c.1389C>T (p.Asp463=) http://identifiers.org/clinvar/385715 ^@ NM_024301.4(FKRP):c.651G>A (p.Pro217=) http://identifiers.org/clinvar/389185 ^@ NM_002103.4(GYS1):c.1926G>T (p.Val642=) http://identifiers.org/clinvar/392241 ^@ NM_001037.4(SCN1B):c.449-10G>A http://identifiers.org/clinvar/390948 ^@ NM_017636.3(TRPM4):c.25-10C>T http://identifiers.org/clinvar/387855 ^@ NM_001037.4(SCN1B):c.546C>T (p.Tyr182=) http://identifiers.org/clinvar/390733 ^@ NM_017636.3(TRPM4):c.3329-13C>T http://identifiers.org/clinvar/381216 ^@ NM_017636.3(TRPM4):c.3641-19C>G http://identifiers.org/clinvar/386643 ^@ NM_001037.4(SCN1B):c.*17C>T http://identifiers.org/clinvar/382061 ^@ NM_019109.4(ALG1):c.539+16G>A http://identifiers.org/clinvar/382580 ^@ NM_019109.4(ALG1):c.867C>T (p.Asp289=) http://identifiers.org/clinvar/392906 ^@ NM_004646.3(NPHS1):c.3481+4A>T http://identifiers.org/clinvar/389111 ^@ NM_007254.3(PNKP):c.*17C>T http://identifiers.org/clinvar/379866 ^@ NM_001953.4(TYMP):c.-10-36G>T http://identifiers.org/clinvar/389434 ^@ NM_005198.4(CHKB):c.737-16C>T http://identifiers.org/clinvar/385703 ^@ NM_001083961.1(WDR62):c.3540C>T (p.Ser1180=) http://identifiers.org/clinvar/389560 ^@ NM_000540.2(RYR1):c.123C>T (p.Phe41=) http://identifiers.org/clinvar/384386 ^@ NM_007254.3(PNKP):c.1164G>T (p.Ser388=) http://identifiers.org/clinvar/388601 ^@ NM_000540.2(RYR1):c.3765+20A>G http://identifiers.org/clinvar/393147 ^@ NM_000540.2(RYR1):c.4879G>A (p.Val1627Met) http://identifiers.org/clinvar/381171 ^@ NM_019109.4(ALG1):c.1080G>A (p.Ala360=) http://identifiers.org/clinvar/384948 ^@ NM_007254.3(PNKP):c.1158C>G (p.Leu386=) http://identifiers.org/clinvar/382966 ^@ NM_019109.4(ALG1):c.1281T>C (p.Phe427=) http://identifiers.org/clinvar/378398 ^@ NM_007254.3(PNKP):c.1140C>T (p.Thr380=) http://identifiers.org/clinvar/382581 ^@ NM_019109.4(ALG1):c.1342C>T (p.Arg448Ter) http://identifiers.org/clinvar/384629 ^@ NM_007254.3(PNKP):c.1065C>T (p.Pro355=) http://identifiers.org/clinvar/389349 ^@ NM_000540.2(RYR1):c.5548-19C>G http://identifiers.org/clinvar/392731 ^@ NM_000540.2(RYR1):c.5942T>G (p.Ile1981Arg) http://identifiers.org/clinvar/382331 ^@ NM_007254.3(PNKP):c.937-20T>C http://identifiers.org/clinvar/391957 ^@ NM_002968.2(SALL1):c.3534+5C>T http://identifiers.org/clinvar/383069 ^@ NM_000540.2(RYR1):c.7028-11C>T http://identifiers.org/clinvar/388216 ^@ NM_005198.4(CHKB):c.597C>T (p.Ile199=) http://identifiers.org/clinvar/392622 ^@ NM_000487.5(ARSA):c.854+3A>G http://identifiers.org/clinvar/384862 ^@ NM_000540.2(RYR1):c.7830C>T (p.Leu2610=) http://identifiers.org/clinvar/378327 ^@ NM_001184880.1(PCDH19):c.3352A>G (p.Ser1118Gly) http://identifiers.org/clinvar/379119 ^@ NM_007254.3(PNKP):c.936+13C>T http://identifiers.org/clinvar/390965 ^@ NM_007254.3(PNKP):c.817-17A>G http://identifiers.org/clinvar/383641 ^@ NM_015272.4(RPGRIP1L):c.3701+14G>A http://identifiers.org/clinvar/393175 ^@ NM_000540.2(RYR1):c.7976C>T (p.Thr2659Met) http://identifiers.org/clinvar/379718 ^@ NM_000540.2(RYR1):c.11590+1G>T http://identifiers.org/clinvar/387556 ^@ NM_007254.3(PNKP):c.817-20C>G http://identifiers.org/clinvar/391386 ^@ NM_004614.4(TK2):c.-256T>A http://identifiers.org/clinvar/393107 ^@ NM_001184880.1(PCDH19):c.3204C>T (p.Pro1068=) http://identifiers.org/clinvar/385222 ^@ NM_000540.2(RYR1):c.13263C>T (p.Asp4421=) http://identifiers.org/clinvar/377636 ^@ NM_004360.4(CDH1):c.-32C>G http://identifiers.org/clinvar/385049 ^@ NM_007254.3(PNKP):c.759G>A (p.Thr253=) http://identifiers.org/clinvar/381359 ^@ NM_007254.3(PNKP):c.744+14G>A http://identifiers.org/clinvar/381238 ^@ NM_004360.4(CDH1):c.48+10A>G http://identifiers.org/clinvar/389432 ^@ NM_000540.2(RYR1):c.13773C>T (p.Asp4591=) http://identifiers.org/clinvar/390365 ^@ NM_000540.2(RYR1):c.14451C>T (p.Ile4817=) http://identifiers.org/clinvar/391234 ^@ NM_004360.4(CDH1):c.49-20C>T http://identifiers.org/clinvar/389441 ^@ NM_000540.2(RYR1):c.14523C>T (p.Thr4841=) http://identifiers.org/clinvar/386293 ^@ NM_017827.3(SARS2):c.589+7C>G http://identifiers.org/clinvar/378326 ^@ NM_001184880.1(PCDH19):c.3204C>A (p.Pro1068=) http://identifiers.org/clinvar/384788 ^@ NM_004360.4(CDH1):c.49-15T>A http://identifiers.org/clinvar/380720 ^@ NM_001184880.1(PCDH19):c.2790T>C (p.Ala930=) http://identifiers.org/clinvar/391971 ^@ NM_016941.3(DLL3):c.661C>T (p.Arg221Ter) http://identifiers.org/clinvar/390657 ^@ NM_007254.3(PNKP):c.408G>A (p.Pro136=) http://identifiers.org/clinvar/382637 ^@ NM_181882.2(PRX):c.3802G>C (p.Ala1268Pro) http://identifiers.org/clinvar/388959 ^@ NM_024729.3(MYH14):c.693+6C>T http://identifiers.org/clinvar/387538 ^@ NM_001184880.1(PCDH19):c.1485G>A (p.Ser495=) http://identifiers.org/clinvar/379558 ^@ NM_001184880.1(PCDH19):c.1353G>A (p.Pro451=) http://identifiers.org/clinvar/387465 ^@ NM_004360.4(CDH1):c.49-8C>T http://identifiers.org/clinvar/383810 ^@ NM_001184880.1(PCDH19):c.741G>T (p.Val247=) http://identifiers.org/clinvar/386662 ^@ NM_181882.2(PRX):c.381+18G>A http://identifiers.org/clinvar/382308 ^@ NM_002691.3(POLD1):c.-32A>G http://identifiers.org/clinvar/384930 ^@ NM_001184880.1(PCDH19):c.117T>A (p.Ile39=) http://identifiers.org/clinvar/387305 ^@ NM_181882.2(PRX):c.-19G>A http://identifiers.org/clinvar/390648 ^@ NM_003573.2(LTBP4):c.1668C>T (p.Arg556=) http://identifiers.org/clinvar/387682 ^@ NM_004360.4(CDH1):c.163+17G>T http://identifiers.org/clinvar/380247 ^@ NM_004360.4(CDH1):c.163+20G>A http://identifiers.org/clinvar/380310 ^@ NM_014467.2(SRPX2):c.449C>T (p.Ser150Phe) http://identifiers.org/clinvar/381632 ^@ NM_000061.2(BTK):c.1805C>T (p.Thr602Ile) http://identifiers.org/clinvar/379662 ^@ NM_000061.2(BTK):c.41C>A (p.Ser14Tyr) http://identifiers.org/clinvar/389552 ^@ NM_004360.4(CDH1):c.164-17T>C http://identifiers.org/clinvar/379288 ^@ NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) http://identifiers.org/clinvar/390730 ^@ NM_003573.2(LTBP4):c.2390-11A>T http://identifiers.org/clinvar/387274 ^@ NM_004360.4(CDH1):c.195G>A (p.Arg65=) http://identifiers.org/clinvar/389395 ^@ NM_003573.2(LTBP4):c.4500C>T (p.Cys1500=) http://identifiers.org/clinvar/384679 ^@ NM_004360.4(CDH1):c.375C>T (p.Pro125=) http://identifiers.org/clinvar/385117 ^@ NM_004360.4(CDH1):c.381C>T (p.Pro127=) http://identifiers.org/clinvar/384699 ^@ NM_003573.2(LTBP4):c.4610-18G>C http://identifiers.org/clinvar/386489 ^@ NM_004360.4(CDH1):c.388-7C>G http://identifiers.org/clinvar/386328 ^@ NM_000169.2(GLA):c.345T>C (p.His115=) http://identifiers.org/clinvar/390357 ^@ NM_000169.2(GLA):c.-32G>A http://identifiers.org/clinvar/380397 ^@ NM_004360.4(CDH1):c.753G>A (p.Thr251=) http://identifiers.org/clinvar/384531 ^@ NM_002691.3(POLD1):c.-31G>A http://identifiers.org/clinvar/393073 ^@ NM_003573.2(LTBP4):c.4685C>T (p.Ser1562Phe) http://identifiers.org/clinvar/382053 ^@ NM_024876.3(COQ8B):c.1365T>C (p.Tyr455=) http://identifiers.org/clinvar/391885 ^@ NM_000354.5(SERPINA7):c.1188G>T (p.Leu396Phe) http://identifiers.org/clinvar/385731 ^@ NM_004360.4(CDH1):c.833-20A>G http://identifiers.org/clinvar/381873 ^@ NM_024876.3(COQ8B):c.1305C>T (p.Ser435=) http://identifiers.org/clinvar/382624 ^@ NM_002764.3(PRPS1):c.288G>A (p.Arg96=) http://identifiers.org/clinvar/385574 ^@ NM_024876.3(COQ8B):c.1297-13C>T http://identifiers.org/clinvar/385984 ^@ NM_001099922.2(ALG13):c.-7C>T http://identifiers.org/clinvar/385863 ^@ NM_024876.3(COQ8B):c.1210-10G>A http://identifiers.org/clinvar/382246 ^@ NM_002691.3(POLD1):c.-1-5A>T http://identifiers.org/clinvar/382137 ^@ NM_001099922.2(ALG13):c.1152G>A (p.Ala384=) http://identifiers.org/clinvar/386698 ^@ NM_002691.3(POLD1):c.203-14C>T http://identifiers.org/clinvar/391577 ^@ NM_030662.3(MAP2K2):c.920-17T>A http://identifiers.org/clinvar/389988 ^@ NM_002691.3(POLD1):c.273A>G (p.Thr91=) http://identifiers.org/clinvar/381349 ^@ NM_004360.4(CDH1):c.833-20A>T http://identifiers.org/clinvar/378108 ^@ NM_030662.3(MAP2K2):c.813C>T (p.Asp271=) http://identifiers.org/clinvar/378976 ^@ NM_030662.3(MAP2K2):c.529-14G>A http://identifiers.org/clinvar/384471 ^@ NM_002691.3(POLD1):c.316+12G>T http://identifiers.org/clinvar/386580 ^@ NM_001099922.2(ALG13):c.1217C>T (p.Ala406Val) http://identifiers.org/clinvar/385295 ^@ NM_004360.4(CDH1):c.915C>T (p.Leu305=) http://identifiers.org/clinvar/384926 ^@ NM_001099922.2(ALG13):c.1813G>A (p.Gly605Ser) http://identifiers.org/clinvar/383197 ^@ NM_004360.4(CDH1):c.1020G>T (p.Thr340=) http://identifiers.org/clinvar/380781 ^@ NM_001099922.2(ALG13):c.2248-4A>G http://identifiers.org/clinvar/386077 ^@ NM_001099922.2(ALG13):c.2385A>G (p.Glu795=) http://identifiers.org/clinvar/382105 ^@ NM_001099922.2(ALG13):c.2401+12C>A http://identifiers.org/clinvar/388033 ^@ NM_004360.4(CDH1):c.1565+13A>G http://identifiers.org/clinvar/384527 ^@ NM_001099922.2(ALG13):c.2654T>C (p.Ile885Thr) http://identifiers.org/clinvar/381527 ^@ NM_001099922.2(ALG13):c.3221A>G (p.Tyr1074Cys) http://identifiers.org/clinvar/377466 ^@ NM_001099922.2(ALG13):c.3414A>C (p.Ter1138Tyr) http://identifiers.org/clinvar/384102 ^@ NM_004360.4(CDH1):c.2167C>T (p.Leu723=) http://identifiers.org/clinvar/390704 ^@ NM_002691.3(POLD1):c.333G>A (p.Val111=) http://identifiers.org/clinvar/383581 ^@ NM_004360.4(CDH1):c.2296-16C>T http://identifiers.org/clinvar/378106 ^@ NM_030662.3(MAP2K2):c.528+11C>T http://identifiers.org/clinvar/382527 ^@ NM_002691.3(POLD1):c.387G>C (p.Gly129=) http://identifiers.org/clinvar/380235 ^@ NM_002691.3(POLD1):c.463+9C>T http://identifiers.org/clinvar/378104 ^@ NM_030662.3(MAP2K2):c.450+12C>T http://identifiers.org/clinvar/386093 ^@ NM_004360.4(CDH1):c.2358C>T (p.Asp786=) http://identifiers.org/clinvar/377454 ^@ NM_000686.4(AGTR2):c.722C>T (p.Thr241Met) http://identifiers.org/clinvar/393081 ^@ NM_000686.4(AGTR2):c.930C>A (p.Asn310Lys) http://identifiers.org/clinvar/378913 ^@ NM_030662.3(MAP2K2):c.240G>A (p.Ala80=) http://identifiers.org/clinvar/381464 ^@ NM_004360.4(CDH1):c.2440-19T>C http://identifiers.org/clinvar/389674 ^@ NM_004360.4(CDH1):c.2648A>T (p.Ter883Leu) http://identifiers.org/clinvar/387212 ^@ NM_030662.3(MAP2K2):c.-23C>A http://identifiers.org/clinvar/381937 ^@ NM_002691.3(POLD1):c.666G>A (p.Pro222=) http://identifiers.org/clinvar/378939 ^@ NM_030662.3(MAP2K2):c.-47A>G http://identifiers.org/clinvar/382444 ^@ NM_000686.4(AGTR2):c.1012A>G (p.Thr338Ala) http://identifiers.org/clinvar/384774 ^@ NM_000709.3(BCKDHA):c.63C>G (p.Ala21=) http://identifiers.org/clinvar/384806 ^@ NM_002691.3(POLD1):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/386810 ^@ NM_002691.3(POLD1):c.758+4C>T http://identifiers.org/clinvar/382587 ^@ NM_032382.4(COG8):c.1839G>A (p.Ter613=) http://identifiers.org/clinvar/387612 ^@ NM_002294.2(LAMP2):c.865-9T>C http://identifiers.org/clinvar/388257 ^@ NM_002294.2(LAMP2):c.398-4A>G http://identifiers.org/clinvar/385595 ^@ NM_002691.3(POLD1):c.758+8C>G http://identifiers.org/clinvar/380227 ^@ NM_002691.3(POLD1):c.810T>C (p.Ala270=) http://identifiers.org/clinvar/383177 ^@ NM_152296.4(ATP1A3):c.2968G>A (p.Val990Ile) http://identifiers.org/clinvar/391032 ^@ NM_032382.4(COG8):c.996C>T (p.Thr332=) http://identifiers.org/clinvar/384763 ^@ NM_032382.4(COG8):c.603G>A (p.Val201=) http://identifiers.org/clinvar/390483 ^@ NM_152296.4(ATP1A3):c.757G>A (p.Asp253Asn) http://identifiers.org/clinvar/383834 ^@ NM_002691.3(POLD1):c.864G>A (p.Ala288=) http://identifiers.org/clinvar/383739 ^@ NM_000828.4(GRIA3):c.1957G>A (p.Ala653Thr) http://identifiers.org/clinvar/389403 ^@ NM_032382.4(COG8):c.522C>T (p.Ala174=) http://identifiers.org/clinvar/388743 ^@ NM_001605.2(AARS):c.2401-11A>C http://identifiers.org/clinvar/386626 ^@ NM_002691.3(POLD1):c.873G>A (p.Leu291=) http://identifiers.org/clinvar/383808 ^@ NM_000276.3(OCRL):c.1040G>A (p.Gly347Glu) http://identifiers.org/clinvar/379480 ^@ NM_000276.3(OCRL):c.1573A>C (p.Lys525Gln) http://identifiers.org/clinvar/390405 ^@ NM_001605.2(AARS):c.1671+10C>T http://identifiers.org/clinvar/387311 ^@ NM_001605.2(AARS):c.1546G>C (p.Val516Leu) http://identifiers.org/clinvar/391124 ^@ NM_002691.3(POLD1):c.1041G>A (p.Pro347=) http://identifiers.org/clinvar/382360 ^@ NM_001605.2(AARS):c.1428G>C (p.Arg476=) http://identifiers.org/clinvar/387720 ^@ NM_152296.4(ATP1A3):c.265G>A (p.Gly89Ser) http://identifiers.org/clinvar/383219 ^@ NM_003399.5(XPNPEP2):c.1017+11C>T http://identifiers.org/clinvar/392470 ^@ NM_001605.2(AARS):c.1399A>G (p.Ile467Val) http://identifiers.org/clinvar/384122 ^@ NM_002088.4(GRIK5):c.1698-4A>T http://identifiers.org/clinvar/387727 ^@ NM_001605.2(AARS):c.1060G>A (p.Val354Ile) http://identifiers.org/clinvar/393280 ^@ NM_005357.3(LIPE):c.3040G>A (p.Val1014Met) http://identifiers.org/clinvar/382316 ^@ NM_002691.3(POLD1):c.1212G>A (p.Pro404=) http://identifiers.org/clinvar/381159 ^@ NM_001605.2(AARS):c.962+18T>C http://identifiers.org/clinvar/383519 ^@ NM_014297.4(ETHE1):c.379T>C (p.Leu127=) http://identifiers.org/clinvar/384566 ^@ NM_014297.4(ETHE1):c.-20C>T http://identifiers.org/clinvar/390421 ^@ NM_015386.2(COG4):c.*7G>C http://identifiers.org/clinvar/387379 ^@ NM_021946.4(BCORL1):c.2903C>T (p.Pro968Leu) http://identifiers.org/clinvar/389604 ^@ NM_002691.3(POLD1):c.1243-7T>A http://identifiers.org/clinvar/381027 ^@ NM_014297.4(ETHE1):c.-24A>C http://identifiers.org/clinvar/391076 ^@ NM_002691.3(POLD1):c.1243-7T>C http://identifiers.org/clinvar/391341 ^@ NM_000400.3(ERCC2):c.950-13C>T http://identifiers.org/clinvar/380867 ^@ NM_005619.4(RTN2):c.79+7G>T http://identifiers.org/clinvar/384981 ^@ NM_004208.3(AIFM1):c.349+8T>G http://identifiers.org/clinvar/382448 ^@ NM_002691.3(POLD1):c.1338C>A (p.Thr446=) http://identifiers.org/clinvar/380636 ^@ NM_002691.3(POLD1):c.1539G>A (p.Leu513=) http://identifiers.org/clinvar/386291 ^@ NM_025136.3(OPA3):c.537A>G (p.Lys179=) http://identifiers.org/clinvar/380088 ^@ NM_015386.2(COG4):c.845-18T>C http://identifiers.org/clinvar/380637 ^@ NM_002691.3(POLD1):c.1548C>T (p.Ala516=) http://identifiers.org/clinvar/380059 ^@ NM_015386.2(COG4):c.544+19T>A http://identifiers.org/clinvar/388382 ^@ NM_016373.3(WWOX):c.-34G>A http://identifiers.org/clinvar/388463 ^@ NM_025136.3(OPA3):c.445C>T (p.Leu149=) http://identifiers.org/clinvar/380705 ^@ NM_002691.3(POLD1):c.1776-20C>T http://identifiers.org/clinvar/392785 ^@ NM_015649.2(IRF2BP1):c.1610C>T (p.Ala537Val) http://identifiers.org/clinvar/380638 ^@ NM_002691.3(POLD1):c.1860G>A (p.Thr620=) http://identifiers.org/clinvar/387468 ^@ NM_016373.3(WWOX):c.-27G>C http://identifiers.org/clinvar/387318 ^@ NM_174901.5(FAM9C):c.183-10T>C http://identifiers.org/clinvar/386692 ^@ NM_002691.3(POLD1):c.2007-14G>A http://identifiers.org/clinvar/386948 ^@ NM_002691.3(POLD1):c.2007-4G>C http://identifiers.org/clinvar/383964 ^@ NM_016373.3(WWOX):c.107+18G>A http://identifiers.org/clinvar/384051 ^@ NM_002691.3(POLD1):c.2169C>T (p.Phe723=) http://identifiers.org/clinvar/380228 ^@ NM_002691.3(POLD1):c.2244T>C (p.Ser748=) http://identifiers.org/clinvar/389811 ^@ NM_005184.3(CALM3):c.-6C>A http://identifiers.org/clinvar/388337 ^@ NM_016373.3(WWOX):c.231-17C>A http://identifiers.org/clinvar/387554 ^@ NM_016373.3(WWOX):c.552C>T (p.Leu184=) http://identifiers.org/clinvar/382514 ^@ NM_002691.3(POLD1):c.2289C>T (p.Phe763=) http://identifiers.org/clinvar/393032 ^@ NM_016373.3(WWOX):c.688C>G (p.Gln230Glu) http://identifiers.org/clinvar/389576 ^@ NM_005184.3(CALM3):c.395A>G (p.Asp132Gly) http://identifiers.org/clinvar/388013 ^@ NM_024301.4(FKRP):c.573C>T (p.Cys191=) http://identifiers.org/clinvar/380641 ^@ NM_002691.3(POLD1):c.2454C>G (p.Pro818=) http://identifiers.org/clinvar/384933 ^@ NM_004484.3(GPC3):c.39G>T (p.Ala13=) http://identifiers.org/clinvar/387353 ^@ NM_002691.3(POLD1):c.2691G>A (p.Lys897=) http://identifiers.org/clinvar/379120 ^@ NM_006359.2(SLC9A6):c.171C>G (p.Ile57Met) http://identifiers.org/clinvar/384940 ^@ NM_016373.3(WWOX):c.888C>G (p.Ser296=) http://identifiers.org/clinvar/389746 ^@ NM_002691.3(POLD1):c.2718-20G>A http://identifiers.org/clinvar/378618 ^@ NM_006359.2(SLC9A6):c.300C>T (p.His100=) http://identifiers.org/clinvar/379485 ^@ NM_006359.2(SLC9A6):c.698-5A>G http://identifiers.org/clinvar/380221 ^@ NM_002691.3(POLD1):c.2718-12A>G http://identifiers.org/clinvar/379113 ^@ NM_024301.4(FKRP):c.828A>G (p.Leu276=) http://identifiers.org/clinvar/386591 ^@ NM_002691.3(POLD1):c.2718-4G>A http://identifiers.org/clinvar/390658 ^@ NM_024301.4(FKRP):c.1191G>T (p.Ala397=) http://identifiers.org/clinvar/388432 ^@ NM_016373.3(WWOX):c.951G>A (p.Thr317=) http://identifiers.org/clinvar/379888 ^@ NM_024301.4(FKRP):c.1394A>C (p.Tyr465Ser) http://identifiers.org/clinvar/382745 ^@ NM_016373.3(WWOX):c.1035G>A (p.Ala345=) http://identifiers.org/clinvar/381924 ^@ NM_002691.3(POLD1):c.2760C>T (p.Asp920=) http://identifiers.org/clinvar/378619 ^@ NM_006359.2(SLC9A6):c.1494T>C (p.Thr498=) http://identifiers.org/clinvar/384469 ^@ NM_002691.3(POLD1):c.2763C>A (p.Arg921=) http://identifiers.org/clinvar/391631 ^@ NM_001449.4(FHL1):c.471G>A (p.Lys157=) http://identifiers.org/clinvar/391709 ^@ NM_001449.4(FHL1):c.689-520G>A http://identifiers.org/clinvar/385857 ^@ NM_002103.4(GYS1):c.1545A>G (p.Thr515=) http://identifiers.org/clinvar/387918 ^@ NM_002103.4(GYS1):c.792C>T (p.Ile264=) http://identifiers.org/clinvar/392841 ^@ NM_016373.3(WWOX):c.1044C>A (p.Phe348Leu) http://identifiers.org/clinvar/382413 ^@ NM_002103.4(GYS1):c.555C>T (p.Gly185=) http://identifiers.org/clinvar/384388 ^@ NM_016373.3(WWOX):c.1146C>T (p.Cys382=) http://identifiers.org/clinvar/383140 ^@ NM_002691.3(POLD1):c.2763C>T (p.Arg921=) http://identifiers.org/clinvar/389183 ^@ NM_002103.4(GYS1):c.300+7C>T http://identifiers.org/clinvar/382511 ^@ NM_002691.3(POLD1):c.2821-5C>T http://identifiers.org/clinvar/383113 ^@ NM_016373.3(WWOX):c.1203C>T (p.Ser401=) http://identifiers.org/clinvar/385602 ^@ NM_002691.3(POLD1):c.3006C>T (p.Leu1002=) http://identifiers.org/clinvar/377911 ^@ NM_022041.3(GAN):c.283-20T>C http://identifiers.org/clinvar/392822 ^@ NM_001449.4(FHL1):c.744C>T (p.Tyr248=) http://identifiers.org/clinvar/387522 ^@ NM_017636.3(TRPM4):c.23A>T (p.Gln8Leu) http://identifiers.org/clinvar/389832 ^@ NM_017636.3(TRPM4):c.24+6C>G http://identifiers.org/clinvar/381653 ^@ NM_000074.2(CD40LG):c.767T>C (p.Phe256Ser) http://identifiers.org/clinvar/386319 ^@ NM_017636.3(TRPM4):c.870C>T (p.Asn290=) http://identifiers.org/clinvar/391830 ^@ NM_022041.3(GAN):c.421G>T (p.Ala141Ser) http://identifiers.org/clinvar/384214 ^@ NM_012213.2(MLYCD):c.408C>G (p.Arg136=) http://identifiers.org/clinvar/378121 ^@ NM_001171876.1(MCF2):c.2008A>G (p.Asn670Asp) http://identifiers.org/clinvar/390329 ^@ NM_017636.3(TRPM4):c.1150+15C>G http://identifiers.org/clinvar/380611 ^@ NM_002025.3(AFF2):c.566C>T (p.Ser189Phe) http://identifiers.org/clinvar/384595 ^@ NM_002691.3(POLD1):c.3067+17A>C http://identifiers.org/clinvar/379914 ^@ NM_012213.2(MLYCD):c.946C>T (p.Gln316Ter) http://identifiers.org/clinvar/388161 ^@ NM_002691.3(POLD1):c.3120+13G>T http://identifiers.org/clinvar/388221 ^@ NM_000252.2(MTM1):c.-48G>C http://identifiers.org/clinvar/383962 ^@ NM_001080442.2(SLC38A8):c.388+5G>A http://identifiers.org/clinvar/391074 ^@ NM_002691.3(POLD1):c.3121-9C>T http://identifiers.org/clinvar/384661 ^@ NM_002691.3(POLD1):c.3219-11C>T http://identifiers.org/clinvar/389812 ^@ NM_017636.3(TRPM4):c.1215C>T (p.Arg405=) http://identifiers.org/clinvar/381217 ^@ NM_017636.3(TRPM4):c.2020-8C>T http://identifiers.org/clinvar/386204 ^@ NM_020686.5(ABAT):c.158C>T (p.Pro53Leu) http://identifiers.org/clinvar/390246 ^@ NM_002641.3(PIGA):c.198G>A (p.Lys66=) http://identifiers.org/clinvar/386820 ^@ NM_001001344.2(ATP2B3):c.3468C>G (p.Ile1156Met) http://identifiers.org/clinvar/391890 ^@ NM_017636.3(TRPM4):c.3450C>T (p.Arg1150=) http://identifiers.org/clinvar/386976 ^@ NM_005629.3(SLC6A8):c.-11C>T http://identifiers.org/clinvar/386942 ^@ NM_002691.3(POLD1):c.3249G>A (p.Lys1083=) http://identifiers.org/clinvar/379955 ^@ NM_001739.1(CA5A):c.807A>T (p.Ala269=) http://identifiers.org/clinvar/386292 ^@ NM_000303.2(PMM2):c.-15C>G http://identifiers.org/clinvar/379837 ^@ NM_015629.3(PRPF31):c.855+1G>A http://identifiers.org/clinvar/383122 ^@ NM_003283.5(TNNT1):c.310-14T>C http://identifiers.org/clinvar/381692 ^@ NM_017636.3(TRPM4):c.3611C>T (p.Pro1204Leu) http://identifiers.org/clinvar/379715 ^@ NM_000303.2(PMM2):c.157C>T (p.Gln53Ter) http://identifiers.org/clinvar/393208 ^@ NM_001127464.2(ZNF469):c.80C>T (p.Pro27Leu) http://identifiers.org/clinvar/391482 ^@ NM_001127464.2(ZNF469):c.1654G>A (p.Gly552Arg) http://identifiers.org/clinvar/389394 ^@ NM_017636.3(TRPM4):c.3641-17T>G http://identifiers.org/clinvar/389579 ^@ NM_001127464.2(ZNF469):c.6405G>A (p.Gln2135=) http://identifiers.org/clinvar/383149 ^@ NM_000363.4(TNNI3):c.493G>T (p.Glu165Ter) http://identifiers.org/clinvar/382522 ^@ NM_030973.3(MED25):c.597C>T (p.Ala199=) http://identifiers.org/clinvar/383165 ^@ NM_005629.3(SLC6A8):c.780C>T (p.Ile260=) http://identifiers.org/clinvar/383066 ^@ NM_005629.3(SLC6A8):c.807C>T (p.Tyr269=) http://identifiers.org/clinvar/382518 ^@ NM_030973.3(MED25):c.1128G>C (p.Val376=) http://identifiers.org/clinvar/379427 ^@ NM_005629.3(SLC6A8):c.813C>T (p.Val271=) http://identifiers.org/clinvar/390550 ^@ NM_175614.4(NDUFA11):c.313+10C>A http://identifiers.org/clinvar/386883 ^@ NM_005629.3(SLC6A8):c.819C>T (p.Val273=) http://identifiers.org/clinvar/381071 ^@ NM_175614.4(NDUFA11):c.-43C>T http://identifiers.org/clinvar/383888 ^@ NM_005629.3(SLC6A8):c.912+9G>A http://identifiers.org/clinvar/392660 ^@ NM_001127464.2(ZNF469):c.7382G>A (p.Arg2461Gln) http://identifiers.org/clinvar/385282 ^@ NM_005629.3(SLC6A8):c.1533C>T (p.Ile511=) http://identifiers.org/clinvar/386466 ^@ NM_005629.3(SLC6A8):c.1831G>A (p.Ala611Thr) http://identifiers.org/clinvar/392202 ^@ NM_001194.3(HCN2):c.433G>C (p.Gly145Arg) http://identifiers.org/clinvar/391673 ^@ NM_001194.3(HCN2):c.2167G>A (p.Val723Ile) http://identifiers.org/clinvar/386864 ^@ NM_007254.3(PNKP):c.1448+7T>C http://identifiers.org/clinvar/389954 ^@ NM_007254.3(PNKP):c.1386+19G>T http://identifiers.org/clinvar/393182 ^@ NM_000208.3(INSR):c.3071C>T (p.Thr1024Ile) http://identifiers.org/clinvar/379820 ^@ NM_007254.3(PNKP):c.1315C>T (p.Arg439Ter) http://identifiers.org/clinvar/386107 ^@ NM_007254.3(PNKP):c.1299-5C>T http://identifiers.org/clinvar/386530 ^@ NM_001127464.2(ZNF469):c.7591A>G (p.Lys2531Glu) http://identifiers.org/clinvar/386522 ^@ NM_001127464.2(ZNF469):c.7680G>A (p.Pro2560=) http://identifiers.org/clinvar/378396 ^@ NM_007254.3(PNKP):c.636+12C>T http://identifiers.org/clinvar/378395 ^@ NM_007254.3(PNKP):c.579-18G>A http://identifiers.org/clinvar/392043 ^@ NM_006702.4(PNPLA6):c.108A>G (p.Arg36=) http://identifiers.org/clinvar/385927 ^@ NM_000033.3(ABCD1):c.757C>T (p.Leu253Phe) http://identifiers.org/clinvar/393098 ^@ NM_006702.4(PNPLA6):c.1262C>T (p.Pro421Leu) http://identifiers.org/clinvar/378394 ^@ NM_007254.3(PNKP):c.564C>T (p.Gly188=) http://identifiers.org/clinvar/391913 ^@ NM_000033.3(ABCD1):c.1582G>A (p.Gly528Ser) http://identifiers.org/clinvar/381542 ^@ NM_000033.3(ABCD1):c.1790C>G (p.Ala597Gly) http://identifiers.org/clinvar/392934 ^@ NM_001204526.1(SSR4):c.450+15C>T http://identifiers.org/clinvar/390132 ^@ NM_001127464.2(ZNF469):c.9432C>T (p.Ala3144=) http://identifiers.org/clinvar/384508 ^@ NM_000425.4(L1CAM):c.2697C>T (p.Asn899=) http://identifiers.org/clinvar/384389 ^@ NM_007254.3(PNKP):c.199-15C>T http://identifiers.org/clinvar/391316 ^@ NM_003491.3(NAA10):c.235C>T (p.Arg79Cys) http://identifiers.org/clinvar/386975 ^@ NM_007254.3(PNKP):c.178C>A (p.Arg60=) http://identifiers.org/clinvar/382078 ^@ NM_005334.2(HCFC1):c.5298G>A (p.Pro1766=) http://identifiers.org/clinvar/383988 ^@ NM_006702.4(PNPLA6):c.2433G>A (p.Ser811=) http://identifiers.org/clinvar/388050 ^@ NM_007254.3(PNKP):c.-13-20C>T http://identifiers.org/clinvar/381268 ^@ NM_001142864.3(PIEZO1):c.4956-3T>C http://identifiers.org/clinvar/384194 ^@ NM_000512.4(GALNS):c.611A>G (p.Asn204Ser) http://identifiers.org/clinvar/386352 ^@ NM_005334.2(HCFC1):c.2394C>T (p.Ile798=) http://identifiers.org/clinvar/379509 ^@ NM_004992.3(MECP2):c.1204C>A (p.Pro402Thr) http://identifiers.org/clinvar/378392 ^@ NM_007254.3(PNKP):c.-21G>A http://identifiers.org/clinvar/381663 ^@ NM_000512.4(GALNS):c.181C>T (p.Arg61Trp) http://identifiers.org/clinvar/391603 ^@ NM_004977.2(KCNC3):c.1010T>C (p.Ile337Thr) http://identifiers.org/clinvar/380080 ^@ NM_174917.4(ACSF3):c.-193-5G>C http://identifiers.org/clinvar/377430 ^@ NM_174917.4(ACSF3):c.-15C>G http://identifiers.org/clinvar/391232 ^@ NM_002691.3(POLD1):c.-2+12G>A http://identifiers.org/clinvar/385427 ^@ NM_174917.4(ACSF3):c.1101C>T (p.Pro367=) http://identifiers.org/clinvar/392584 ^@ NM_004992.3(MECP2):c.687G>T (p.Ser229=) http://identifiers.org/clinvar/387601 ^@ NM_001456.3(FLNA):c.7671G>A (p.Leu2557=) http://identifiers.org/clinvar/385992 ^@ NM_006702.4(PNPLA6):c.2704-4C>T http://identifiers.org/clinvar/387186 ^@ NM_002691.3(POLD1):c.24C>T (p.Gly8=) http://identifiers.org/clinvar/383020 ^@ NM_174917.4(ACSF3):c.1467G>C (p.Val489=) http://identifiers.org/clinvar/386792 ^@ NM_002691.3(POLD1):c.102C>T (p.Phe34=) http://identifiers.org/clinvar/392335 ^@ NM_001456.3(FLNA):c.7604G>A (p.Cys2535Tyr) http://identifiers.org/clinvar/388393 ^@ NM_006702.4(PNPLA6):c.3492A>G (p.Leu1164=) http://identifiers.org/clinvar/386390 ^@ NM_006702.4(PNPLA6):c.3840C>T (p.Ala1280=) http://identifiers.org/clinvar/383201 ^@ NM_002691.3(POLD1):c.202+3A>G http://identifiers.org/clinvar/387071 ^@ NM_001171155.1(PET100):c.-19G>C http://identifiers.org/clinvar/385672 ^@ NM_001171155.1(PET100):c.139-15C>T http://identifiers.org/clinvar/391126 ^@ NM_002691.3(POLD1):c.316+13G>C http://identifiers.org/clinvar/388889 ^@ NM_174917.4(ACSF3):c.1502-18C>G http://identifiers.org/clinvar/383457 ^@ NM_001171155.1(PET100):c.199C>T (p.Arg67Cys) http://identifiers.org/clinvar/381299 ^@ NM_001456.3(FLNA):c.7529-10T>C http://identifiers.org/clinvar/382810 ^@ NM_001456.3(FLNA):c.7365G>A (p.Ser2455=) http://identifiers.org/clinvar/387920 ^@ NM_006351.3(TIMM44):c.771G>C (p.Arg257=) http://identifiers.org/clinvar/379920 ^@ NM_174917.4(ACSF3):c.1608G>A (p.Trp536Ter) http://identifiers.org/clinvar/392904 ^@ NM_001456.3(FLNA):c.6830T>C (p.Phe2277Ser) http://identifiers.org/clinvar/393077 ^@ NM_002691.3(POLD1):c.317-8C>T http://identifiers.org/clinvar/387189 ^@ NM_001456.3(FLNA):c.6746-16A>G http://identifiers.org/clinvar/380220 ^@ NM_002691.3(POLD1):c.356G>A (p.Arg119His) http://identifiers.org/clinvar/378730 ^@ NM_006351.3(TIMM44):c.363G>A (p.Lys121=) http://identifiers.org/clinvar/377633 ^@ NM_016579.3(CD320):c.772C>T (p.Arg258Cys) http://identifiers.org/clinvar/389465 ^@ NM_013275.5(ANKRD11):c.7806+4G>A http://identifiers.org/clinvar/379306 ^@ NM_013275.5(ANKRD11):c.7138C>T (p.Gln2380Ter) http://identifiers.org/clinvar/386549 ^@ NM_001456.3(FLNA):c.5949G>A (p.Ser1983=) http://identifiers.org/clinvar/382771 ^@ NM_001456.3(FLNA):c.5451C>T (p.Asp1817=) http://identifiers.org/clinvar/380634 ^@ NM_002691.3(POLD1):c.518G>A (p.Ser173Asn) http://identifiers.org/clinvar/382056 ^@ NM_016579.3(CD320):c.769G>A (p.Glu257Lys) http://identifiers.org/clinvar/387178 ^@ NM_002691.3(POLD1):c.522G>A (p.Arg174=) http://identifiers.org/clinvar/386135 ^@ NM_002691.3(POLD1):c.590-14T>C http://identifiers.org/clinvar/391049 ^@ NM_001456.3(FLNA):c.4143-20C>T http://identifiers.org/clinvar/388480 ^@ NM_001456.3(FLNA):c.3087T>C (p.Ser1029=) http://identifiers.org/clinvar/384515 ^@ NM_002691.3(POLD1):c.732C>T (p.Tyr244=) http://identifiers.org/clinvar/382678 ^@ NM_002691.3(POLD1):c.744C>T (p.Val248=) http://identifiers.org/clinvar/390193 ^@ NM_001972.3(ELANE):c.*15G>T http://identifiers.org/clinvar/385879 ^@ NM_002691.3(POLD1):c.774G>T (p.Thr258=) http://identifiers.org/clinvar/382396 ^@ NM_001456.3(FLNA):c.3036G>A (p.Ser1012=) http://identifiers.org/clinvar/393105 ^@ NM_002691.3(POLD1):c.900G>A (p.Pro300=) http://identifiers.org/clinvar/391605 ^@ NM_030957.3(ADAMTS10):c.2462G>A (p.Arg821His) http://identifiers.org/clinvar/389301 ^@ NM_002691.3(POLD1):c.933C>T (p.Arg311=) http://identifiers.org/clinvar/377883 ^@ NM_001456.3(FLNA):c.2472C>T (p.Phe824=) http://identifiers.org/clinvar/389283 ^@ NM_000214.2(JAG1):c.1349-16C>G http://identifiers.org/clinvar/389360 ^@ NM_002691.3(POLD1):c.951C>T (p.Ile317=) http://identifiers.org/clinvar/383186 ^@ NM_024120.4(NDUFAF5):c.245G>A (p.Arg82His) http://identifiers.org/clinvar/388542 ^@ NM_002691.3(POLD1):c.1113C>T (p.Tyr371=) http://identifiers.org/clinvar/377596 ^@ NM_024120.4(NDUFAF5):c.375+16A>G http://identifiers.org/clinvar/380366 ^@ NM_013275.5(ANKRD11):c.3822C>T (p.Ala1274=) http://identifiers.org/clinvar/389420 ^@ NM_013275.5(ANKRD11):c.1425G>T (p.Lys475Asn) http://identifiers.org/clinvar/385535 ^@ NM_002691.3(POLD1):c.1137+11C>T http://identifiers.org/clinvar/378640 ^@ NM_003119.3(SPG7):c.1325-6C>T http://identifiers.org/clinvar/377599 ^@ NM_024120.4(NDUFAF5):c.612G>A (p.Ala204=) http://identifiers.org/clinvar/393126 ^@ NM_001195.4(BFSP1):c.1372C>T (p.Pro458Ser) http://identifiers.org/clinvar/380706 ^@ NM_002691.3(POLD1):c.1173C>T (p.Asp391=) http://identifiers.org/clinvar/385442 ^@ NM_052865.3(MGME1):c.114G>A (p.Lys38=) http://identifiers.org/clinvar/380551 ^@ NM_052865.3(MGME1):c.270A>G (p.Gln90=) http://identifiers.org/clinvar/387157 ^@ NM_002691.3(POLD1):c.1243-14C>G http://identifiers.org/clinvar/392332 ^@ NM_018993.3(RIN2):c.447A>G (p.Ile149Met) http://identifiers.org/clinvar/387630 ^@ NM_002691.3(POLD1):c.1323G>C (p.Thr441=) http://identifiers.org/clinvar/391009 ^@ NM_002691.3(POLD1):c.1383+18G>A http://identifiers.org/clinvar/380416 ^@ NM_001456.3(FLNA):c.2389G>A (p.Ala797Thr) http://identifiers.org/clinvar/384713 ^@ NM_018993.3(RIN2):c.804C>T (p.Ala268=) http://identifiers.org/clinvar/388477 ^@ NM_001456.3(FLNA):c.2280+18G>A http://identifiers.org/clinvar/387346 ^@ NM_018993.3(RIN2):c.1044G>C (p.Leu348=) http://identifiers.org/clinvar/390689 ^@ NM_003119.3(SPG7):c.1553-6T>G http://identifiers.org/clinvar/381774 ^@ NM_002691.3(POLD1):c.1495-14G>A http://identifiers.org/clinvar/382779 ^@ NM_002691.3(POLD1):c.1536C>T (p.Cys512=) http://identifiers.org/clinvar/385607 ^@ NM_001042472.2(ABHD12):c.836G>A (p.Arg279His) http://identifiers.org/clinvar/387435 ^@ NM_001456.3(FLNA):c.1804A>G (p.Ile602Val) http://identifiers.org/clinvar/390933 ^@ NM_001456.3(FLNA):c.1761G>A (p.Glu587=) http://identifiers.org/clinvar/383400 ^@ NM_001456.3(FLNA):c.1367T>C (p.Val456Ala) http://identifiers.org/clinvar/377881 ^@ NM_001456.3(FLNA):c.1066-19C>T http://identifiers.org/clinvar/381332 ^@ NM_001456.3(FLNA):c.753C>T (p.Asn251=) http://identifiers.org/clinvar/386216 ^@ NM_002691.3(POLD1):c.1746G>A (p.Thr582=) http://identifiers.org/clinvar/389008 ^@ NM_001042472.2(ABHD12):c.212G>A (p.Arg71His) http://identifiers.org/clinvar/388270 ^@ NM_003119.3(SPG7):c.1953G>A (p.Leu651=) http://identifiers.org/clinvar/382585 ^@ NM_033118.3(MYLK2):c.1092C>T (p.Gly364=) http://identifiers.org/clinvar/388834 ^@ NM_001456.3(FLNA):c.374-12T>C http://identifiers.org/clinvar/392041 ^@ NM_002691.3(POLD1):c.1815G>A (p.Ser605=) http://identifiers.org/clinvar/385899 ^@ NM_001456.3(FLNA):c.90C>T (p.Ala30=) http://identifiers.org/clinvar/391884 ^@ NM_001456.3(FLNA):c.65A>G (p.Asp22Gly) http://identifiers.org/clinvar/384197 ^@ NM_001456.3(FLNA):c.9C>T (p.Ser3=) http://identifiers.org/clinvar/380949 ^@ NM_002768.4(CHMP1A):c.*100T>G http://identifiers.org/clinvar/390042 ^@ NM_002768.4(CHMP1A):c.408C>T (p.Ala136=) http://identifiers.org/clinvar/391987 ^@ NM_003098.2(SNTA1):c.815C>T (p.Thr272Met) http://identifiers.org/clinvar/384617 ^@ NM_002768.4(CHMP1A):c.-31C>T http://identifiers.org/clinvar/384329 ^@ NM_006086.3(TUBB3):c.862G>A (p.Glu288Lys) http://identifiers.org/clinvar/384456 ^@ NM_003098.2(SNTA1):c.630C>T (p.Ser210=) http://identifiers.org/clinvar/391419 ^@ NM_001456.3(FLNA):c.-36C>T http://identifiers.org/clinvar/383332 ^@ NM_000833.4(GRIN2A):c.4011G>A (p.Ser1337=) http://identifiers.org/clinvar/384352 ^@ NM_002691.3(POLD1):c.1872C>T (p.Pro624=) http://identifiers.org/clinvar/382185 ^@ NM_000117.2(EMD):c.-24C>T http://identifiers.org/clinvar/379342 ^@ NM_000117.2(EMD):c.166G>A (p.Ala56Thr) http://identifiers.org/clinvar/381223 ^@ NM_003098.2(SNTA1):c.552G>A (p.Ser184=) http://identifiers.org/clinvar/391591 ^@ NM_002691.3(POLD1):c.1892+10C>T http://identifiers.org/clinvar/386309 ^@ NM_000687.3(AHCY):c.1025G>T (p.Gly342Val) http://identifiers.org/clinvar/385350 ^@ NM_002691.3(POLD1):c.2006+16C>T http://identifiers.org/clinvar/380639 ^@ NM_002691.3(POLD1):c.2006+17G>A http://identifiers.org/clinvar/377828 ^@ NM_000117.2(EMD):c.400-20G>A http://identifiers.org/clinvar/383044 ^@ NM_000178.3(GSS):c.981T>C (p.Ala327=) http://identifiers.org/clinvar/381789 ^@ NM_000833.4(GRIN2A):c.3426C>T (p.Pro1142=) http://identifiers.org/clinvar/387263 ^@ NM_000116.4(TAZ):c.321G>A (p.Glu107=) http://identifiers.org/clinvar/388622 ^@ NM_000116.4(TAZ):c.594C>A (p.Arg198=) http://identifiers.org/clinvar/387719 ^@ NM_001493.2(GDI1):c.309G>A (p.Lys103=) http://identifiers.org/clinvar/377645 ^@ NM_003159.2(CDKL5):c.192T>G (p.Leu64=) http://identifiers.org/clinvar/382364 ^@ NM_000178.3(GSS):c.468C>T (p.Ala156=) http://identifiers.org/clinvar/386177 ^@ NM_000833.4(GRIN2A):c.3400C>A (p.Gln1134Lys) http://identifiers.org/clinvar/392115 ^@ NM_000178.3(GSS):c.399C>T (p.Ser133=) http://identifiers.org/clinvar/391450 ^@ NM_000833.4(GRIN2A):c.3276C>G (p.Ser1092=) http://identifiers.org/clinvar/377942 ^@ NM_000833.4(GRIN2A):c.2760A>G (p.Arg920=) http://identifiers.org/clinvar/391991 ^@ NM_020433.4(JPH2):c.*14+15C>T http://identifiers.org/clinvar/380643 ^@ NM_002691.3(POLD1):c.2007-15C>T http://identifiers.org/clinvar/390343 ^@ NM_020433.4(JPH2):c.1689C>T (p.Tyr563=) http://identifiers.org/clinvar/384088 ^@ NM_000833.4(GRIN2A):c.2735C>G (p.Ser912Cys) http://identifiers.org/clinvar/392860 ^@ NM_003159.2(CDKL5):c.419A>G (p.Asn140Ser) http://identifiers.org/clinvar/389651 ^@ NM_000833.4(GRIN2A):c.1842T>C (p.Asn614=) http://identifiers.org/clinvar/390507 ^@ NM_020433.4(JPH2):c.1635C>T (p.Ile545=) http://identifiers.org/clinvar/387696 ^@ NM_002691.3(POLD1):c.2251-9C>T http://identifiers.org/clinvar/380766 ^@ NM_000833.4(GRIN2A):c.1428C>T (p.Asp476=) http://identifiers.org/clinvar/382450 ^@ NM_002691.3(POLD1):c.2322G>C (p.Leu774=) http://identifiers.org/clinvar/380718 ^@ NM_000833.4(GRIN2A):c.1284G>A (p.Thr428=) http://identifiers.org/clinvar/389653 ^@ NM_020433.4(JPH2):c.1476G>T (p.Pro492=) http://identifiers.org/clinvar/381105 ^@ NM_020433.4(JPH2):c.1410G>T (p.Pro470=) http://identifiers.org/clinvar/377647 ^@ NM_003159.2(CDKL5):c.1730T>C (p.Met577Thr) http://identifiers.org/clinvar/389544 ^@ NM_020433.4(JPH2):c.1169+18G>C http://identifiers.org/clinvar/381134 ^@ NM_020433.4(JPH2):c.819C>A (p.Ala273=) http://identifiers.org/clinvar/380415 ^@ NM_000833.4(GRIN2A):c.963C>T (p.Tyr321=) http://identifiers.org/clinvar/385995 ^@ NM_003159.2(CDKL5):c.2497-10T>G http://identifiers.org/clinvar/377936 ^@ NM_000833.4(GRIN2A):c.882C>T (p.Asp294=) http://identifiers.org/clinvar/387924 ^@ NM_002691.3(POLD1):c.2371C>T (p.Arg791Trp) http://identifiers.org/clinvar/386269 ^@ NM_002691.3(POLD1):c.2388+4C>T http://identifiers.org/clinvar/379343 ^@ NM_020433.4(JPH2):c.702G>A (p.Glu234=) http://identifiers.org/clinvar/388135 ^@ NM_002691.3(POLD1):c.2389-15A>G http://identifiers.org/clinvar/385348 ^@ NM_020433.4(JPH2):c.531G>A (p.Pro177=) http://identifiers.org/clinvar/386693 ^@ NM_002691.3(POLD1):c.2389-8C>T http://identifiers.org/clinvar/387899 ^@ NM_002691.3(POLD1):c.2457C>T (p.Asp819=) http://identifiers.org/clinvar/391457 ^@ NM_000833.4(GRIN2A):c.487C>T (p.Gln163Ter) http://identifiers.org/clinvar/387700 ^@ NM_002691.3(POLD1):c.2493C>T (p.Ala831=) http://identifiers.org/clinvar/385777 ^@ NM_002691.3(POLD1):c.2580G>A (p.Ala860=) http://identifiers.org/clinvar/379264 ^@ NM_000330.3(RS1):c.279T>A (p.Tyr93Ter) http://identifiers.org/clinvar/391257 ^@ NM_002691.3(POLD1):c.2598C>T (p.Asp866=) http://identifiers.org/clinvar/386451 ^@ NM_175914.4(HNF4A):c.582+20G>C http://identifiers.org/clinvar/392264 ^@ NM_000022.3(ADA):c.780+7G>A http://identifiers.org/clinvar/386008 ^@ NM_002691.3(POLD1):c.2610C>T (p.Asp870=) http://identifiers.org/clinvar/377935 ^@ NM_000833.4(GRIN2A):c.447G>A (p.Ala149=) http://identifiers.org/clinvar/387026 ^@ NM_003159.2(CDKL5):c.2829G>A (p.Lys943=) http://identifiers.org/clinvar/381288 ^@ NM_144628.3(TBC1D20):c.236A>G (p.Asn79Ser) http://identifiers.org/clinvar/379856 ^@ NM_030777.3(SLC2A10):c.1008C>T (p.Thr336=) http://identifiers.org/clinvar/383142 ^@ NM_002691.3(POLD1):c.2820+7C>G http://identifiers.org/clinvar/381930 ^@ NM_002691.3(POLD1):c.2821-11T>C http://identifiers.org/clinvar/387652 ^@ NM_000833.4(GRIN2A):c.415-15T>C http://identifiers.org/clinvar/392718 ^@ NM_002691.3(POLD1):c.2832C>T (p.Phe944=) http://identifiers.org/clinvar/391398 ^@ NM_030777.3(SLC2A10):c.1269C>T (p.Phe423=) http://identifiers.org/clinvar/382184 ^@ NM_030777.3(SLC2A10):c.1412-13C>T http://identifiers.org/clinvar/386604 ^@ NM_018127.6(ELAC2):c.1908+16G>A http://identifiers.org/clinvar/390486 ^@ NM_002691.3(POLD1):c.2904C>T (p.Arg968=) http://identifiers.org/clinvar/384586 ^@ NM_000292.2(PHKA2):c.3243C>T (p.Pro1081=) http://identifiers.org/clinvar/382473 ^@ NM_018127.6(ELAC2):c.1692C>T (p.Arg564=) http://identifiers.org/clinvar/384246 ^@ NM_018127.6(ELAC2):c.1479G>A (p.Pro493=) http://identifiers.org/clinvar/382193 ^@ NM_002691.3(POLD1):c.2920C>T (p.Leu974=) http://identifiers.org/clinvar/391624 ^@ NM_030777.3(SLC2A10):c.1446C>T (p.Tyr482=) http://identifiers.org/clinvar/384592 ^@ NM_002691.3(POLD1):c.3067+6C>T http://identifiers.org/clinvar/389701 ^@ NM_006420.2(ARFGEF2):c.2100C>T (p.Ser700=) http://identifiers.org/clinvar/380508 ^@ NM_018127.6(ELAC2):c.1389C>T (p.Tyr463=) http://identifiers.org/clinvar/382794 ^@ NM_018127.6(ELAC2):c.1161C>T (p.Thr387=) http://identifiers.org/clinvar/385103 ^@ NM_002691.3(POLD1):c.3120+11C>T http://identifiers.org/clinvar/379967 ^@ NM_018127.6(ELAC2):c.297-11T>C http://identifiers.org/clinvar/377746 ^@ NM_001303.3(COX10):c.93C>A (p.Asp31Glu) http://identifiers.org/clinvar/385560 ^@ NM_006420.2(ARFGEF2):c.2106G>T (p.Arg702Ser) http://identifiers.org/clinvar/388065 ^@ NM_002691.3(POLD1):c.3198C>T (p.His1066=) http://identifiers.org/clinvar/384962 ^@ NM_002691.3(POLD1):c.3218+11T>G http://identifiers.org/clinvar/391745 ^@ NM_006420.2(ARFGEF2):c.3681C>T (p.Ala1227=) http://identifiers.org/clinvar/384244 ^@ NM_001303.3(COX10):c.1200C>T (p.Tyr400=) http://identifiers.org/clinvar/383707 ^@ NM_006420.2(ARFGEF2):c.4212C>T (p.His1404=) http://identifiers.org/clinvar/380824 ^@ NM_004975.3(KCNB1):c.2570G>A (p.Ser857Asn) http://identifiers.org/clinvar/392430 ^@ NM_004975.3(KCNB1):c.2442T>G (p.Ile814Met) http://identifiers.org/clinvar/384861 ^@ NM_000292.2(PHKA2):c.3187C>A (p.Arg1063=) http://identifiers.org/clinvar/388651 ^@ NM_000292.2(PHKA2):c.2670C>T (p.Leu890=) http://identifiers.org/clinvar/389169 ^@ NM_002691.3(POLD1):c.3219-20G>A http://identifiers.org/clinvar/381944 ^@ NM_002691.3(POLD1):c.3219-16C>T http://identifiers.org/clinvar/390369 ^@ NM_004975.3(KCNB1):c.2364G>A (p.Thr788=) http://identifiers.org/clinvar/384973 ^@ NM_004975.3(KCNB1):c.2334C>T (p.Leu778=) http://identifiers.org/clinvar/382636 ^@ NM_000304.3(PMP22):c.403G>A (p.Ala135Thr) http://identifiers.org/clinvar/388134 ^@ NM_002691.3(POLD1):c.3297C>T (p.Phe1099=) http://identifiers.org/clinvar/382723 ^@ NM_000304.3(PMP22):c.366G>T (p.Pro122=) http://identifiers.org/clinvar/384215 ^@ NM_001985.2(ETFB):c.702G>A (p.Thr234=) http://identifiers.org/clinvar/387754 ^@ NM_000292.2(PHKA2):c.2518-5C>T http://identifiers.org/clinvar/387909 ^@ NM_000292.2(PHKA2):c.1964-7A>G http://identifiers.org/clinvar/377833 ^@ NM_001985.2(ETFB):c.498C>T (p.Ile166=) http://identifiers.org/clinvar/387578 ^@ NM_000304.3(PMP22):c.177C>T (p.Asn59=) http://identifiers.org/clinvar/382641 ^@ NM_000304.3(PMP22):c.-23G>A http://identifiers.org/clinvar/381855 ^@ NM_000284.3(PDHA1):c.117+19T>A http://identifiers.org/clinvar/388156 ^@ NM_000284.3(PDHA1):c.900-10C>A http://identifiers.org/clinvar/381081 ^@ NM_017775.3(TTC19):c.-169C>A http://identifiers.org/clinvar/378796 ^@ NM_017775.3(TTC19):c.27G>C (p.Leu9=) http://identifiers.org/clinvar/390239 ^@ NM_024075.4(TSEN34):c.699C>T (p.Phe233=) http://identifiers.org/clinvar/387053 ^@ NM_144997.5(FLCN):c.*17G>T http://identifiers.org/clinvar/392203 ^@ NM_004586.2(RPS6KA3):c.1798G>A (p.Asp600Asn) http://identifiers.org/clinvar/380822 ^@ NM_004975.3(KCNB1):c.2058C>T (p.Pro686=) http://identifiers.org/clinvar/388510 ^@ NM_144997.5(FLCN):c.429C>G (p.Phe143Leu) http://identifiers.org/clinvar/379502 ^@ NM_000444.5(PHEX):c.58C>T (p.Arg20Ter) http://identifiers.org/clinvar/389601 ^@ NM_145691.3(ATPAF2):c.179-12T>G http://identifiers.org/clinvar/385537 ^@ NM_000363.4(TNNI3):c.309T>C (p.Arg103=) http://identifiers.org/clinvar/386519 ^@ NM_015681.4(B9D1):c.493G>T (p.Gly165Cys) http://identifiers.org/clinvar/392577 ^@ NM_003593.2(FOXN1):c.573T>C (p.His191=) http://identifiers.org/clinvar/379615 ^@ NM_000444.5(PHEX):c.185C>T (p.Ala62Val) http://identifiers.org/clinvar/381606 ^@ NM_000267.3(NF1):c.1062+3A>G http://identifiers.org/clinvar/378932 ^@ NM_000363.4(TNNI3):c.108+2T>G http://identifiers.org/clinvar/380823 ^@ NM_004975.3(KCNB1):c.1847C>G (p.Thr616Ser) http://identifiers.org/clinvar/384082 ^@ NM_000267.3(NF1):c.3611G>T (p.Arg1204Leu) http://identifiers.org/clinvar/382765 ^@ NM_004975.3(KCNB1):c.1576G>A (p.Val526Ile) http://identifiers.org/clinvar/389587 ^@ NM_000267.3(NF1):c.8414G>C (p.Ser2805Thr) http://identifiers.org/clinvar/387661 ^@ NM_004975.3(KCNB1):c.1296G>A (p.Arg432=) http://identifiers.org/clinvar/379283 ^@ NM_000444.5(PHEX):c.617T>G (p.Leu206Trp) http://identifiers.org/clinvar/381631 ^@ NM_000049.2(ASPA):c.368G>A (p.Gly123Glu) http://identifiers.org/clinvar/387377 ^@ NM_000444.5(PHEX):c.1482+16A>C http://identifiers.org/clinvar/378463 ^@ NM_002878.3(RAD51D):c.768C>T (p.Asp256=) http://identifiers.org/clinvar/385628 ^@ NM_004975.3(KCNB1):c.568-18A>G http://identifiers.org/clinvar/378359 ^@ NM_000444.5(PHEX):c.1736G>A (p.Gly579Glu) http://identifiers.org/clinvar/383570 ^@ NM_004793.3(LONP1):c.2008G>T (p.Ala670Ser) http://identifiers.org/clinvar/383093 ^@ NM_004975.3(KCNB1):c.568-20C>T http://identifiers.org/clinvar/387038 ^@ NM_002878.3(RAD51D):c.738+17G>A http://identifiers.org/clinvar/380821 ^@ NM_004975.3(KCNB1):c.198C>T (p.His66=) http://identifiers.org/clinvar/382040 ^@ NM_001142386.2(PDK3):c.376A>G (p.Met126Val) http://identifiers.org/clinvar/383855 ^@ NM_002878.3(RAD51D):c.738+13G>T http://identifiers.org/clinvar/384395 ^@ NM_139058.2(ARX):c.*20C>T http://identifiers.org/clinvar/392863 ^@ NM_002878.3(RAD51D):c.309T>C (p.Thr103=) http://identifiers.org/clinvar/392765 ^@ NM_004975.3(KCNB1):c.-29C>G http://identifiers.org/clinvar/388677 ^@ NM_139058.2(ARX):c.1599C>A (p.Ala533=) http://identifiers.org/clinvar/380544 ^@ NM_002878.3(RAD51D):c.145-13G>T http://identifiers.org/clinvar/385024 ^@ NM_003859.2(DPM1):c.296-12T>C http://identifiers.org/clinvar/386588 ^@ NM_004793.3(LONP1):c.1897-8G>A http://identifiers.org/clinvar/387228 ^@ NM_003859.2(DPM1):c.286T>C (p.Leu96=) http://identifiers.org/clinvar/393263 ^@ NM_139058.2(ARX):c.1597G>A (p.Ala533Thr) http://identifiers.org/clinvar/382045 ^@ NM_175614.4(NDUFA11):c.98-5C>T http://identifiers.org/clinvar/387925 ^@ NM_001853.3(COL9A3):c.505G>A (p.Ala169Thr) http://identifiers.org/clinvar/384736 ^@ NM_139058.2(ARX):c.1119+6C>T http://identifiers.org/clinvar/378461 ^@ NM_002878.3(RAD51D):c.-34A>G http://identifiers.org/clinvar/387903 ^@ NM_001853.3(COL9A3):c.1109G>A (p.Gly370Glu) http://identifiers.org/clinvar/380378 ^@ NM_000744.6(CHRNA4):c.1689C>T (p.Ala563=) http://identifiers.org/clinvar/384651 ^@ NM_000744.6(CHRNA4):c.1443C>T (p.Gly481=) http://identifiers.org/clinvar/386723 ^@ NM_000458.3(HNF1B):c.983C>T (p.Pro328Leu) http://identifiers.org/clinvar/383533 ^@ NM_139058.2(ARX):c.1105G>A (p.Glu369Lys) http://identifiers.org/clinvar/386567 ^@ NM_003673.3(TCAP):c.33G>A (p.Ser11=) http://identifiers.org/clinvar/392996 ^@ NM_139058.2(ARX):c.950G>A (p.Ser317Asn) http://identifiers.org/clinvar/387609 ^@ NM_003673.3(TCAP):c.195C>G (p.Pro65=) http://identifiers.org/clinvar/382206 ^@ NM_000744.6(CHRNA4):c.1245G>A (p.Pro415=) http://identifiers.org/clinvar/379078 ^@ NM_139058.2(ARX):c.808G>A (p.Ala270Thr) http://identifiers.org/clinvar/380377 ^@ NM_000744.6(CHRNA4):c.1188C>T (p.Ser396=) http://identifiers.org/clinvar/383608 ^@ NM_139058.2(ARX):c.674A>T (p.Asp225Val) http://identifiers.org/clinvar/388333 ^@ NM_139058.2(ARX):c.409G>A (p.Glu137Lys) http://identifiers.org/clinvar/377673 ^@ NM_000744.6(CHRNA4):c.591C>T (p.Arg197=) http://identifiers.org/clinvar/384133 ^@ NM_006087.3(TUBB4A):c.*3T>C http://identifiers.org/clinvar/393228 ^@ NM_033419.4(PGAP3):c.653G>A (p.Arg218His) http://identifiers.org/clinvar/382351 ^@ NM_002230.2(JUP):c.2139G>A (p.Pro713=) http://identifiers.org/clinvar/388461 ^@ NM_000744.6(CHRNA4):c.273+7G>A http://identifiers.org/clinvar/377670 ^@ NM_000744.6(CHRNA4):c.258C>T (p.Asn86=) http://identifiers.org/clinvar/390880 ^@ NM_006702.4(PNPLA6):c.888+14G>A http://identifiers.org/clinvar/383904 ^@ NM_003918.2(GYG2):c.-23C>G http://identifiers.org/clinvar/392155 ^@ NM_000744.6(CHRNA4):c.255G>A (p.Thr85=) http://identifiers.org/clinvar/386652 ^@ NM_000744.6(CHRNA4):c.229-11C>T http://identifiers.org/clinvar/380724 ^@ NM_002230.2(JUP):c.1924+18A>C http://identifiers.org/clinvar/392948 ^@ NM_000744.6(CHRNA4):c.140G>A (p.Gly47Asp) http://identifiers.org/clinvar/388843 ^@ NM_006702.4(PNPLA6):c.1818C>G (p.Arg606=) http://identifiers.org/clinvar/377985 ^@ NM_002230.2(JUP):c.1710C>T (p.Leu570=) http://identifiers.org/clinvar/388669 ^@ NM_172107.3(KCNQ2):c.2208C>T (p.His736=) http://identifiers.org/clinvar/381271 ^@ NM_016579.3(CD320):c.840G>A (p.Ser280=) http://identifiers.org/clinvar/379860 ^@ NM_032551.4(KISS1R):c.1155G>A (p.Ala385=) http://identifiers.org/clinvar/379983 ^@ NM_003918.2(GYG2):c.938A>G (p.His313Arg) http://identifiers.org/clinvar/381209 ^@ NM_003918.2(GYG2):c.963G>A (p.Ala321=) http://identifiers.org/clinvar/390358 ^@ NM_002230.2(JUP):c.1266C>T (p.Asn422=) http://identifiers.org/clinvar/381240 ^@ NM_172107.3(KCNQ2):c.2007G>A (p.Pro669=) http://identifiers.org/clinvar/383260 ^@ NM_172107.3(KCNQ2):c.1909C>T (p.Leu637=) http://identifiers.org/clinvar/391993 ^@ NM_002230.2(JUP):c.258G>A (p.Arg86=) http://identifiers.org/clinvar/378030 ^@ NM_172107.3(KCNQ2):c.1887+17G>A http://identifiers.org/clinvar/388640 ^@ NM_000047.2(ARSE):c.1686G>C (p.Leu562=) http://identifiers.org/clinvar/389034 ^@ NM_002230.2(JUP):c.-4C>T http://identifiers.org/clinvar/379112 ^@ NM_172107.3(KCNQ2):c.1887+16C>T http://identifiers.org/clinvar/389093 ^@ NM_000214.2(JAG1):c.1120+10A>G http://identifiers.org/clinvar/378028 ^@ NM_172107.3(KCNQ2):c.1631+18C>T http://identifiers.org/clinvar/387400 ^@ NM_000214.2(JAG1):c.1062C>T (p.Thr354=) http://identifiers.org/clinvar/390251 ^@ NM_000214.2(JAG1):c.399G>A (p.Thr133=) http://identifiers.org/clinvar/382021 ^@ NM_002230.2(JUP):c.-8-8G>T http://identifiers.org/clinvar/377984 ^@ NM_002230.2(JUP):c.-9+4C>G http://identifiers.org/clinvar/389063 ^@ NM_172107.3(KCNQ2):c.1512G>A (p.Arg504=) http://identifiers.org/clinvar/382472 ^@ NM_024120.4(NDUFAF5):c.89C>T (p.Thr30Ile) http://identifiers.org/clinvar/378673 ^@ NM_139276.2(STAT3):c.2281T>C (p.Leu761=) http://identifiers.org/clinvar/377598 ^@ NM_024120.4(NDUFAF5):c.450T>C (p.Asn150=) http://identifiers.org/clinvar/386943 ^@ NM_139276.2(STAT3):c.1281+11T>C http://identifiers.org/clinvar/378671 ^@ NM_139276.2(STAT3):c.225G>A (p.Ser75=) http://identifiers.org/clinvar/379956 ^@ NM_025233.6(COASY):c.164C>A (p.Ser55Tyr) http://identifiers.org/clinvar/379569 ^@ NM_000167.5(GK):c.514C>T (p.Arg172Ter) http://identifiers.org/clinvar/384274 ^@ NM_024120.4(NDUFAF5):c.863-16A>G http://identifiers.org/clinvar/379121 ^@ NM_004006.2(DMD):c.*59C>A http://identifiers.org/clinvar/386056 ^@ NM_025233.6(COASY):c.916-4C>G http://identifiers.org/clinvar/387687 ^@ NM_004006.2(DMD):c.10224-5T>C http://identifiers.org/clinvar/383192 ^@ NM_001195.4(BFSP1):c.377+5G>C http://identifiers.org/clinvar/379957 ^@ NM_025233.6(COASY):c.972A>G (p.Thr324=) http://identifiers.org/clinvar/380530 ^@ NM_025233.6(COASY):c.1587C>T (p.His529=) http://identifiers.org/clinvar/389389 ^@ NM_018993.3(RIN2):c.427C>T (p.Pro143Ser) http://identifiers.org/clinvar/380875 ^@ NM_001070.4(TUBG1):c.1029C>G (p.Arg343=) http://identifiers.org/clinvar/389498 ^@ NM_001070.4(TUBG1):c.1318C>T (p.Arg440Trp) http://identifiers.org/clinvar/389838 ^@ NM_172107.3(KCNQ2):c.1119-8C>G http://identifiers.org/clinvar/391330 ^@ NM_004006.2(DMD):c.9621T>C (p.Cys3207=) http://identifiers.org/clinvar/390580 ^@ NM_018993.3(RIN2):c.2069-8G>A http://identifiers.org/clinvar/389062 ^@ NM_172107.3(KCNQ2):c.1023+19C>T http://identifiers.org/clinvar/378938 ^@ NM_000151.3(G6PC):c.1068G>A (p.Ser356=) http://identifiers.org/clinvar/378023 ^@ NM_172107.3(KCNQ2):c.840C>T (p.Tyr280=) http://identifiers.org/clinvar/381339 ^@ NM_172107.3(KCNQ2):c.817-5C>T http://identifiers.org/clinvar/392705 ^@ NM_172107.3(KCNQ2):c.631A>G (p.Met211Val) http://identifiers.org/clinvar/393273 ^@ NM_018993.3(RIN2):c.2320C>T (p.Arg774Trp) http://identifiers.org/clinvar/392524 ^@ NM_172107.3(KCNQ2):c.603C>A (p.Arg201=) http://identifiers.org/clinvar/390785 ^@ NM_004006.2(DMD):c.9510C>T (p.Asn3170=) http://identifiers.org/clinvar/387169 ^@ NM_004006.2(DMD):c.9225-176C>A http://identifiers.org/clinvar/383136 ^@ NM_007294.3(BRCA1):c.*3G>T http://identifiers.org/clinvar/392366 ^@ NM_004006.2(DMD):c.8937+8C>G http://identifiers.org/clinvar/378021 ^@ NM_172107.3(KCNQ2):c.515-9G>A http://identifiers.org/clinvar/383398 ^@ NM_033118.3(MYLK2):c.879-7T>C http://identifiers.org/clinvar/379005 ^@ NM_007294.3(BRCA1):c.5502C>T (p.Thr1834=) http://identifiers.org/clinvar/380130 ^@ NM_004006.2(DMD):c.8766C>T (p.Ser2922=) http://identifiers.org/clinvar/390774 ^@ NM_033118.3(MYLK2):c.1248C>T (p.Asn416=) http://identifiers.org/clinvar/385604 ^@ NM_007294.3(BRCA1):c.5358G>C (p.Leu1786=) http://identifiers.org/clinvar/391566 ^@ NM_172107.3(KCNQ2):c.322G>A (p.Val108Met) http://identifiers.org/clinvar/380331 ^@ NM_033118.3(MYLK2):c.1577+9C>T http://identifiers.org/clinvar/389935 ^@ NM_007294.3(BRCA1):c.5277+6G>T http://identifiers.org/clinvar/387320 ^@ NM_015338.5(ASXL1):c.4421T>C (p.Leu1474Pro) http://identifiers.org/clinvar/383879 ^@ NM_001958.3(EEF1A2):c.1335C>T (p.Ser445=) http://identifiers.org/clinvar/379036 ^@ NM_003098.2(SNTA1):c.117G>A (p.Val39=) http://identifiers.org/clinvar/390156 ^@ NM_007294.3(BRCA1):c.5075-7T>C http://identifiers.org/clinvar/387365 ^@ NM_007294.3(BRCA1):c.4675+10C>T http://identifiers.org/clinvar/383053 ^@ NM_004006.2(DMD):c.8760G>C (p.Leu2920=) http://identifiers.org/clinvar/388835 ^@ NM_144628.3(TBC1D20):c.956+17C>G http://identifiers.org/clinvar/389535 ^@ NM_020433.4(JPH2):c.2011-15C>T http://identifiers.org/clinvar/380759 ^@ NM_020433.4(JPH2):c.1566G>A (p.Arg522=) http://identifiers.org/clinvar/377572 ^@ NM_007294.3(BRCA1):c.4635C>T (p.His1545=) http://identifiers.org/clinvar/392161 ^@ NM_020433.4(JPH2):c.1562G>A (p.Ser521Asn) http://identifiers.org/clinvar/384449 ^@ NM_020433.4(JPH2):c.1137C>A (p.Ile379=) http://identifiers.org/clinvar/383531 ^@ NM_001958.3(EEF1A2):c.1309G>T (p.Val437Phe) http://identifiers.org/clinvar/390333 ^@ NM_004006.2(DMD):c.8712A>G (p.Leu2904=) http://identifiers.org/clinvar/384115 ^@ NM_007294.3(BRCA1):c.4185+8G>A http://identifiers.org/clinvar/382135 ^@ NM_144628.3(TBC1D20):c.525-15A>C http://identifiers.org/clinvar/379171 ^@ NM_007294.3(BRCA1):c.3897G>A (p.Gln1299=) http://identifiers.org/clinvar/387394 ^@ NM_004006.2(DMD):c.8547+18C>T http://identifiers.org/clinvar/387783 ^@ NM_004006.2(DMD):c.7725G>A (p.Leu2575=) http://identifiers.org/clinvar/379872 ^@ NM_004006.2(DMD):c.5758C>T (p.Gln1920Ter) http://identifiers.org/clinvar/390491 ^@ NM_004006.2(DMD):c.3921+18C>G http://identifiers.org/clinvar/382795 ^@ NM_000022.3(ADA):c.575G>A (p.Ser192Asn) http://identifiers.org/clinvar/377634 ^@ NM_001250.5(CD40):c.403+20A>G http://identifiers.org/clinvar/383402 ^@ NM_004006.2(DMD):c.3678T>G (p.Ala1226=) http://identifiers.org/clinvar/388184 ^@ NM_004006.2(DMD):c.2858C>T (p.Thr953Ile) http://identifiers.org/clinvar/385957 ^@ NM_004006.2(DMD):c.2846G>A (p.Ser949Asn) http://identifiers.org/clinvar/382686 ^@ NM_001958.3(EEF1A2):c.1265-15C>T http://identifiers.org/clinvar/383693 ^@ NM_001958.3(EEF1A2):c.1263C>T (p.Leu421=) http://identifiers.org/clinvar/389325 ^@ NM_144628.3(TBC1D20):c.70+15C>T http://identifiers.org/clinvar/389912 ^@ NM_007294.3(BRCA1):c.3879T>C (p.Ala1293=) http://identifiers.org/clinvar/382670 ^@ NM_004006.2(DMD):c.2617T>C (p.Cys873Arg) http://identifiers.org/clinvar/386730 ^@ NM_001958.3(EEF1A2):c.1182G>T (p.Leu394=) http://identifiers.org/clinvar/391867 ^@ NM_030777.3(SLC2A10):c.1014G>C (p.Gln338His) http://identifiers.org/clinvar/382861 ^@ NM_001958.3(EEF1A2):c.1030-8G>A http://identifiers.org/clinvar/383578 ^@ NM_007294.3(BRCA1):c.3738C>T (p.Thr1246=) http://identifiers.org/clinvar/378600 ^@ NM_030777.3(SLC2A10):c.1289-6C>T http://identifiers.org/clinvar/382207 ^@ NM_007294.3(BRCA1):c.3213A>G (p.Glu1071=) http://identifiers.org/clinvar/377496 ^@ NM_006420.2(ARFGEF2):c.-27G>A http://identifiers.org/clinvar/385823 ^@ NM_004006.2(DMD):c.2557T>C (p.Leu853=) http://identifiers.org/clinvar/382676 ^@ NM_001958.3(EEF1A2):c.1029+12C>T http://identifiers.org/clinvar/383406 ^@ NM_001958.3(EEF1A2):c.843G>A (p.Ala281=) http://identifiers.org/clinvar/380259 ^@ NM_007294.3(BRCA1):c.2874C>T (p.Phe958=) http://identifiers.org/clinvar/385935 ^@ NM_007294.3(BRCA1):c.2142T>C (p.Asn714=) http://identifiers.org/clinvar/389373 ^@ NM_006420.2(ARFGEF2):c.955G>A (p.Glu319Lys) http://identifiers.org/clinvar/384296 ^@ NM_006420.2(ARFGEF2):c.2010G>A (p.Met670Ile) http://identifiers.org/clinvar/381308 ^@ NM_006420.2(ARFGEF2):c.2974-18A>G http://identifiers.org/clinvar/388356 ^@ NM_004006.2(DMD):c.1603-11C>T http://identifiers.org/clinvar/382214 ^@ NM_004006.2(DMD):c.1518G>T (p.Arg506Ser) http://identifiers.org/clinvar/387663 ^@ NM_004975.3(KCNB1):c.*17G>A http://identifiers.org/clinvar/391751 ^@ NM_004006.2(DMD):c.1462C>T (p.Arg488Cys) http://identifiers.org/clinvar/382142 ^@ NM_004975.3(KCNB1):c.2473C>T (p.Pro825Ser) http://identifiers.org/clinvar/380354 ^@ NM_007294.3(BRCA1):c.2004C>A (p.Leu668=) http://identifiers.org/clinvar/389713 ^@ NM_001958.3(EEF1A2):c.807C>T (p.Thr269=) http://identifiers.org/clinvar/385481 ^@ NM_004975.3(KCNB1):c.2472C>T (p.Gly824=) http://identifiers.org/clinvar/392072 ^@ NM_004006.2(DMD):c.1378T>C (p.Leu460=) http://identifiers.org/clinvar/384829 ^@ NM_001958.3(EEF1A2):c.783G>A (p.Thr261=) http://identifiers.org/clinvar/383525 ^@ NM_007294.3(BRCA1):c.1920A>G (p.Gln640=) http://identifiers.org/clinvar/380751 ^@ NM_004006.2(DMD):c.1374A>G (p.Lys458=) http://identifiers.org/clinvar/389171 ^@ NM_007294.3(BRCA1):c.594-5T>C http://identifiers.org/clinvar/385133 ^@ NM_004975.3(KCNB1):c.2376G>A (p.Ser792=) http://identifiers.org/clinvar/388687 ^@ NM_001958.3(EEF1A2):c.773-15C>T http://identifiers.org/clinvar/385517 ^@ NM_004006.2(DMD):c.960+11A>G http://identifiers.org/clinvar/381763 ^@ NM_007294.3(BRCA1):c.593+16C>G http://identifiers.org/clinvar/382300 ^@ NM_004006.2(DMD):c.76A>G (p.Asn26Asp) http://identifiers.org/clinvar/392139 ^@ NM_000531.5(OTC):c.87A>G (p.Gln29=) http://identifiers.org/clinvar/390714 ^@ NM_017745.5(BCOR):c.3839C>A (p.Ala1280Asp) http://identifiers.org/clinvar/386443 ^@ NM_004975.3(KCNB1):c.2136G>A (p.Thr712=) http://identifiers.org/clinvar/383226 ^@ NM_004975.3(KCNB1):c.1837C>T (p.Pro613Ser) http://identifiers.org/clinvar/379002 ^@ NM_007294.3(BRCA1):c.547+14G>A http://identifiers.org/clinvar/386408 ^@ NM_007294.3(BRCA1):c.302-10T>C http://identifiers.org/clinvar/389109 ^@ NM_001958.3(EEF1A2):c.714C>T (p.Pro238=) http://identifiers.org/clinvar/388047 ^@ NM_001958.3(EEF1A2):c.672C>T (p.Ser224=) http://identifiers.org/clinvar/390186 ^@ NM_005765.2(ATP6AP2):c.284C>T (p.Ser95Leu) http://identifiers.org/clinvar/390808 ^@ NM_007294.3(BRCA1):c.212+19A>G http://identifiers.org/clinvar/380340 ^@ NM_007294.3(BRCA1):c.-16A>G http://identifiers.org/clinvar/381053 ^@ NM_005765.2(ATP6AP2):c.822T>C (p.Ile274=) http://identifiers.org/clinvar/391824 ^@ NM_001039590.2(USP9X):c.643C>T (p.Arg215Ter) http://identifiers.org/clinvar/382001 ^@ NM_007294.3(BRCA1):c.-20+13C>T http://identifiers.org/clinvar/390174 ^@ NM_001958.3(EEF1A2):c.633C>T (p.Phe211=) http://identifiers.org/clinvar/384582 ^@ NM_153006.2(NAGS):c.1368C>G (p.Ser456=) http://identifiers.org/clinvar/381747 ^@ NM_000419.4(ITGA2B):c.2944G>A (p.Val982Met) http://identifiers.org/clinvar/381748 ^@ NM_000419.4(ITGA2B):c.1234G>A (p.Gly412Arg) http://identifiers.org/clinvar/389704 ^@ NM_001958.3(EEF1A2):c.477G>A (p.Glu159=) http://identifiers.org/clinvar/393125 ^@ NM_000419.4(ITGA2B):c.1061C>A (p.Ala354Asp) http://identifiers.org/clinvar/383373 ^@ NM_001193416.2(DDX3X):c.968C>T (p.Thr323Ile) http://identifiers.org/clinvar/384311 ^@ NM_004975.3(KCNB1):c.1305T>C (p.Ala435=) http://identifiers.org/clinvar/384177 ^@ NM_004975.3(KCNB1):c.938A>G (p.His313Arg) http://identifiers.org/clinvar/390568 ^@ NM_001193416.2(DDX3X):c.1226G>A (p.Gly409Asp) http://identifiers.org/clinvar/381968 ^@ NM_001193466.1(KANSL1):c.*3G>A http://identifiers.org/clinvar/386456 ^@ NM_001958.3(EEF1A2):c.357C>T (p.Gly119=) http://identifiers.org/clinvar/377995 ^@ NM_001193466.1(KANSL1):c.3306G>A (p.Pro1102=) http://identifiers.org/clinvar/388173 ^@ NM_001958.3(EEF1A2):c.342G>C (p.Leu114=) http://identifiers.org/clinvar/391144 ^@ NM_004975.3(KCNB1):c.900C>A (p.Arg300=) http://identifiers.org/clinvar/385075 ^@ NM_004975.3(KCNB1):c.855C>T (p.Ser285=) http://identifiers.org/clinvar/383878 ^@ NM_001958.3(EEF1A2):c.237G>A (p.Lys79=) http://identifiers.org/clinvar/387662 ^@ NM_004975.3(KCNB1):c.630G>A (p.Thr210=) http://identifiers.org/clinvar/383991 ^@ NM_004975.3(KCNB1):c.177G>A (p.Lys59=) http://identifiers.org/clinvar/381804 ^@ NM_001193416.2(DDX3X):c.1667T>C (p.Leu556Ser) http://identifiers.org/clinvar/386473 ^@ NM_001958.3(EEF1A2):c.183C>T (p.Asp61=) http://identifiers.org/clinvar/391536 ^@ NM_004975.3(KCNB1):c.39C>T (p.Thr13=) http://identifiers.org/clinvar/388823 ^@ NM_001193466.1(KANSL1):c.3305C>T (p.Pro1102Leu) http://identifiers.org/clinvar/383305 ^@ NM_001958.3(EEF1A2):c.117T>C (p.Ile39=) http://identifiers.org/clinvar/385210 ^@ NM_004975.3(KCNB1):c.-47G>A http://identifiers.org/clinvar/391218 ^@ NM_015339.4(ADNP):c.2213C>G (p.Ser738Ter) http://identifiers.org/clinvar/386594 ^@ NM_015339.4(ADNP):c.1855G>T (p.Val619Phe) http://identifiers.org/clinvar/388942 ^@ NM_001958.3(EEF1A2):c.-25G>T http://identifiers.org/clinvar/388914 ^@ NM_001193466.1(KANSL1):c.3236C>T (p.Ala1079Val) http://identifiers.org/clinvar/383872 ^@ NM_001958.3(EEF1A2):c.-25G>A http://identifiers.org/clinvar/381249 ^@ NM_001193466.1(KANSL1):c.3215C>T (p.Thr1072Ile) http://identifiers.org/clinvar/379730 ^@ NM_000516.5(GNAS):c.125G>A (p.Arg42His) http://identifiers.org/clinvar/382192 ^@ NM_001193466.1(KANSL1):c.3038T>C (p.Leu1013Ser) http://identifiers.org/clinvar/390566 ^@ NM_003688.3(CASK):c.2018C>T (p.Pro673Leu) http://identifiers.org/clinvar/390296 ^@ NM_003688.3(CASK):c.1503+15A>G http://identifiers.org/clinvar/378238 ^@ NM_000266.3(NDP):c.267C>G (p.Phe89Leu) http://identifiers.org/clinvar/377679 ^@ NM_000744.6(CHRNA4):c.*5G>C http://identifiers.org/clinvar/377678 ^@ NM_000744.6(CHRNA4):c.1665C>T (p.Pro555=) http://identifiers.org/clinvar/384761 ^@ NM_025219.2(DNAJC5):c.-45C>G http://identifiers.org/clinvar/386880 ^@ NM_001193466.1(KANSL1):c.3008C>T (p.Thr1003Ile) http://identifiers.org/clinvar/393180 ^@ NM_000744.6(CHRNA4):c.1609C>T (p.Pro537Ser) http://identifiers.org/clinvar/381697 ^@ NM_001193466.1(KANSL1):c.2837+14C>T http://identifiers.org/clinvar/388041 ^@ NM_001193466.1(KANSL1):c.2808G>A (p.Thr936=) http://identifiers.org/clinvar/392703 ^@ NM_003334.3(UBA1):c.1305C>T (p.Asp435=) http://identifiers.org/clinvar/384433 ^@ NM_003334.3(UBA1):c.2157G>A (p.Ser719=) http://identifiers.org/clinvar/377781 ^@ NM_025219.2(DNAJC5):c.282C>T (p.Asn94=) http://identifiers.org/clinvar/378696 ^@ NM_133499.2(SYN1):c.580C>T (p.Arg194Cys) http://identifiers.org/clinvar/379705 ^@ NM_000377.2(WAS):c.360+1G>T http://identifiers.org/clinvar/382944 ^@ NM_000933.3(PLCB4):c.453G>T (p.Trp151Cys) http://identifiers.org/clinvar/385889 ^@ NM_000744.6(CHRNA4):c.1395C>G (p.Ser465=) http://identifiers.org/clinvar/390670 ^@ NM_001193466.1(KANSL1):c.2724+17T>C http://identifiers.org/clinvar/388818 ^@ NM_001193466.1(KANSL1):c.2392+15A>G http://identifiers.org/clinvar/377676 ^@ NM_000744.6(CHRNA4):c.1212C>T (p.Pro404=) http://identifiers.org/clinvar/377999 ^@ NM_172201.1(KCNE2):c.222C>T (p.Ser74=) http://identifiers.org/clinvar/390888 ^@ NM_001042498.2(SLC35A2):c.594C>T (p.Asn198=) http://identifiers.org/clinvar/382011 ^@ NM_000219.5(KCNE1):c.189G>A (p.Leu63=) http://identifiers.org/clinvar/380716 ^@ NM_000744.6(CHRNA4):c.1065G>A (p.Leu355=) http://identifiers.org/clinvar/388451 ^@ NM_001193466.1(KANSL1):c.2371C>A (p.His791Asn) http://identifiers.org/clinvar/383300 ^@ NM_001042498.2(SLC35A2):c.561C>T (p.Ala187=) http://identifiers.org/clinvar/384400 ^@ NM_007075.3(WDR45):c.*19T>A http://identifiers.org/clinvar/381736 ^@ NM_000744.6(CHRNA4):c.618T>C (p.Ser206=) http://identifiers.org/clinvar/380630 ^@ NM_001193466.1(KANSL1):c.1979A>G (p.Gln660Arg) http://identifiers.org/clinvar/381952 ^@ NM_001193466.1(KANSL1):c.1830C>A (p.Ile610=) http://identifiers.org/clinvar/381706 ^@ NM_000744.6(CHRNA4):c.411C>T (p.His137=) http://identifiers.org/clinvar/388079 ^@ NM_000219.5(KCNE1):c.113G>A (p.Ser38Asn) http://identifiers.org/clinvar/384601 ^@ NM_001193466.1(KANSL1):c.1738G>C (p.Val580Leu) http://identifiers.org/clinvar/377671 ^@ NM_000744.6(CHRNA4):c.384-14C>G http://identifiers.org/clinvar/382840 ^@ NM_001193466.1(KANSL1):c.1270G>A (p.Glu424Lys) http://identifiers.org/clinvar/392311 ^@ NM_000219.5(KCNE1):c.42C>T (p.Thr14=) http://identifiers.org/clinvar/379252 ^@ NM_007075.3(WDR45):c.947A>C (p.Asn316Thr) http://identifiers.org/clinvar/388211 ^@ NM_007075.3(WDR45):c.570T>C (p.Asn190=) http://identifiers.org/clinvar/383408 ^@ NM_007075.3(WDR45):c.354C>T (p.Ile118=) http://identifiers.org/clinvar/391999 ^@ NM_000744.6(CHRNA4):c.162C>T (p.Pro54=) http://identifiers.org/clinvar/379065 ^@ NM_172107.3(KCNQ2):c.2560C>T (p.Arg854Cys) http://identifiers.org/clinvar/381949 ^@ NM_001193466.1(KANSL1):c.1248A>G (p.Glu416=) http://identifiers.org/clinvar/385250 ^@ NM_007075.3(WDR45):c.345-11G>C http://identifiers.org/clinvar/386334 ^@ NM_000219.5(KCNE1):c.-162+12G>A http://identifiers.org/clinvar/380645 ^@ NM_001193466.1(KANSL1):c.1141G>C (p.Glu381Gln) http://identifiers.org/clinvar/387981 ^@ NM_000411.6(HLCS):c.2097G>A (p.Gln699=) http://identifiers.org/clinvar/385756 ^@ NM_172107.3(KCNQ2):c.2344C>A (p.Arg782=) http://identifiers.org/clinvar/377962 ^@ NM_000411.6(HLCS):c.1680+11T>A http://identifiers.org/clinvar/387153 ^@ NM_007075.3(WDR45):c.344+18C>T http://identifiers.org/clinvar/389798 ^@ NM_000411.6(HLCS):c.726G>A (p.Lys242=) http://identifiers.org/clinvar/378031 ^@ NM_172107.3(KCNQ2):c.2244C>T (p.His748=) http://identifiers.org/clinvar/388748 ^@ NM_000411.6(HLCS):c.492C>T (p.Ile164=) http://identifiers.org/clinvar/389443 ^@ NM_001193466.1(KANSL1):c.1000A>G (p.Asn334Asp) http://identifiers.org/clinvar/387870 ^@ NM_172107.3(KCNQ2):c.1763+20G>A http://identifiers.org/clinvar/388430 ^@ NM_001396.4(DYRK1A):c.-16G>A http://identifiers.org/clinvar/380395 ^@ NM_001193466.1(KANSL1):c.706T>A (p.Ser236Thr) http://identifiers.org/clinvar/378026 ^@ NM_172107.3(KCNQ2):c.1525+12C>T http://identifiers.org/clinvar/379665 ^@ NM_001193466.1(KANSL1):c.520A>G (p.Thr174Ala) http://identifiers.org/clinvar/380345 ^@ NM_001193466.1(KANSL1):c.500A>C (p.His167Pro) http://identifiers.org/clinvar/385904 ^@ NM_001396.4(DYRK1A):c.519T>C (p.Val173=) http://identifiers.org/clinvar/385294 ^@ NM_172107.3(KCNQ2):c.1329C>G (p.Val443=) http://identifiers.org/clinvar/383355 ^@ NM_172107.3(KCNQ2):c.1137C>T (p.Tyr379=) http://identifiers.org/clinvar/380974 ^@ NM_001193466.1(KANSL1):c.439A>G (p.Thr147Ala) http://identifiers.org/clinvar/387543 ^@ NM_001396.4(DYRK1A):c.664+10C>A http://identifiers.org/clinvar/381241 ^@ NM_001193466.1(KANSL1):c.264A>G (p.Thr88=) http://identifiers.org/clinvar/378025 ^@ NM_172107.3(KCNQ2):c.1118+69C>T http://identifiers.org/clinvar/382194 ^@ NM_172107.3(KCNQ2):c.817-11C>T http://identifiers.org/clinvar/382152 ^@ NM_001193466.1(KANSL1):c.191G>A (p.Arg64Gln) http://identifiers.org/clinvar/384366 ^@ NM_172107.3(KCNQ2):c.792C>T (p.Tyr264=) http://identifiers.org/clinvar/390810 ^@ NM_005183.3(CACNA1F):c.3742-2A>C http://identifiers.org/clinvar/378022 ^@ NM_172107.3(KCNQ2):c.690+9C>T http://identifiers.org/clinvar/389264 ^@ NM_014008.4(CCDC22):c.910-5C>T http://identifiers.org/clinvar/380591 ^@ NM_001193466.1(KANSL1):c.56G>A (p.Arg19Gln) http://identifiers.org/clinvar/391516 ^@ NM_001396.4(DYRK1A):c.1002G>A (p.Leu334=) http://identifiers.org/clinvar/383232 ^@ NM_001396.4(DYRK1A):c.1287G>A (p.Val429=) http://identifiers.org/clinvar/379222 ^@ NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln) http://identifiers.org/clinvar/383134 ^@ NM_004187.3(KDM5C):c.4334G>A (p.Arg1445His) http://identifiers.org/clinvar/392775 ^@ NM_001193466.1(KANSL1):c.12G>A (p.Met4Ile) http://identifiers.org/clinvar/392510 ^@ NM_172107.3(KCNQ2):c.485A>G (p.Lys162Arg) http://identifiers.org/clinvar/380122 ^@ NM_172107.3(KCNQ2):c.426C>T (p.Phe142=) http://identifiers.org/clinvar/388931 ^@ NM_001111125.2(IQSEC2):c.3825G>A (p.Pro1275=) http://identifiers.org/clinvar/390873 ^@ NM_001193466.1(KANSL1):c.-100C>G http://identifiers.org/clinvar/387833 ^@ NM_172107.3(KCNQ2):c.321C>T (p.Leu107=) http://identifiers.org/clinvar/382869 ^@ NM_001396.4(DYRK1A):c.1416T>C (p.Tyr472=) http://identifiers.org/clinvar/383842 ^@ NM_004287.4(GOSR2):c.29+9C>T http://identifiers.org/clinvar/387651 ^@ NM_004287.4(GOSR2):c.94+12A>G http://identifiers.org/clinvar/387237 ^@ NM_001396.4(DYRK1A):c.1671+13G>A http://identifiers.org/clinvar/392472 ^@ NM_018129.3(PNPO):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/386165 ^@ NM_018129.3(PNPO):c.727T>C (p.Leu243=) http://identifiers.org/clinvar/381628 ^@ NM_000080.3(CHRNE):c.794C>T (p.Pro265Leu) http://identifiers.org/clinvar/386601 ^@ NM_053013.3(ENO3):c.310+13C>T http://identifiers.org/clinvar/388042 ^@ NM_001396.4(DYRK1A):c.1671+18T>C http://identifiers.org/clinvar/380523 ^@ NM_053013.3(ENO3):c.1067+18C>T http://identifiers.org/clinvar/386650 ^@ NM_172107.3(KCNQ2):c.288C>T (p.His96=) http://identifiers.org/clinvar/378020 ^@ NM_172107.3(KCNQ2):c.-42G>A http://identifiers.org/clinvar/390819 ^@ NM_001396.4(DYRK1A):c.1968A>G (p.Thr656=) http://identifiers.org/clinvar/389739 ^@ NM_053013.3(ENO3):c.1176+8T>C http://identifiers.org/clinvar/388376 ^@ NM_001396.4(DYRK1A):c.2112C>G (p.Val704=) http://identifiers.org/clinvar/388109 ^@ NM_001958.3(EEF1A2):c.1320C>T (p.Asn440=) http://identifiers.org/clinvar/390513 ^@ NM_006612.5(KIF1C):c.-149+16G>A http://identifiers.org/clinvar/388100 ^@ NM_000023.3(SGCA):c.312+19A>C http://identifiers.org/clinvar/382763 ^@ NM_001958.3(EEF1A2):c.1266C>A (p.Gly422=) http://identifiers.org/clinvar/384161 ^@ NM_001958.3(EEF1A2):c.1095A>C (p.Thr365=) http://identifiers.org/clinvar/387552 ^@ NM_001111125.2(IQSEC2):c.3669G>A (p.Pro1223=) http://identifiers.org/clinvar/387579 ^@ NM_001958.3(EEF1A2):c.621+9C>T http://identifiers.org/clinvar/380779 ^@ NM_001958.3(EEF1A2):c.480G>A (p.Pro160=) http://identifiers.org/clinvar/389132 ^@ NM_000023.3(SGCA):c.1035G>A (p.Arg345=) http://identifiers.org/clinvar/383947 ^@ NM_001111125.2(IQSEC2):c.3278-14C>T http://identifiers.org/clinvar/390164 ^@ NM_001111125.2(IQSEC2):c.2889+10T>C http://identifiers.org/clinvar/388575 ^@ NM_001958.3(EEF1A2):c.129G>A (p.Glu43=) http://identifiers.org/clinvar/380407 ^@ NM_001111125.2(IQSEC2):c.2816G>A (p.Arg939His) http://identifiers.org/clinvar/381714 ^@ NM_024022.2(TMPRSS3):c.316C>T (p.Arg106Cys) http://identifiers.org/clinvar/379751 ^@ NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) http://identifiers.org/clinvar/385234 ^@ NM_001111125.2(IQSEC2):c.2571C>A (p.Ile857=) http://identifiers.org/clinvar/386738 ^@ NM_001111125.2(IQSEC2):c.2508G>A (p.Ala836=) http://identifiers.org/clinvar/386775 ^@ NM_000071.2(CBS):c.1146-20G>A http://identifiers.org/clinvar/385169 ^@ NM_000071.2(CBS):c.1039+3G>A http://identifiers.org/clinvar/377715 ^@ NM_000088.3(COL1A1):c.2716G>A (p.Gly906Ser) http://identifiers.org/clinvar/377629 ^@ NM_000071.2(CBS):c.954+20C>T http://identifiers.org/clinvar/377978 ^@ NM_001111125.2(IQSEC2):c.2507C>T (p.Ala836Val) http://identifiers.org/clinvar/391141 ^@ NM_025219.2(DNAJC5):c.207C>T (p.Asp69=) http://identifiers.org/clinvar/392061 ^@ NM_000088.3(COL1A1):c.2559T>A (p.Ile853=) http://identifiers.org/clinvar/390160 ^@ NM_001111125.2(IQSEC2):c.2298-10C>T http://identifiers.org/clinvar/384937 ^@ NM_001111125.2(IQSEC2):c.2297+13C>T http://identifiers.org/clinvar/388709 ^@ NM_000071.2(CBS):c.348G>T (p.Gly116=) http://identifiers.org/clinvar/390034 ^@ NM_001111125.2(IQSEC2):c.2174C>T (p.Pro725Leu) http://identifiers.org/clinvar/391894 ^@ NM_025219.2(DNAJC5):c.237C>T (p.Tyr79=) http://identifiers.org/clinvar/388040 ^@ NM_001111125.2(IQSEC2):c.567G>A (p.Ser189=) http://identifiers.org/clinvar/382937 ^@ NM_001111125.2(IQSEC2):c.435C>T (p.Thr145=) http://identifiers.org/clinvar/390191 ^@ NM_000088.3(COL1A1):c.2181G>A (p.Gln727=) http://identifiers.org/clinvar/388576 ^@ NM_001111125.2(IQSEC2):c.214C>T (p.Leu72=) http://identifiers.org/clinvar/383229 ^@ NM_025219.2(DNAJC5):c.324C>G (p.Ala108=) http://identifiers.org/clinvar/377782 ^@ NM_025219.2(DNAJC5):c.494-18T>C http://identifiers.org/clinvar/379319 ^@ NM_000383.3(AIRE):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/388927 ^@ NM_001200.3(BMP2):c.460C>T (p.Arg154Ter) http://identifiers.org/clinvar/391496 ^@ NM_000484.3(APP):c.1076G>C (p.Arg359Pro) http://identifiers.org/clinvar/384652 ^@ NM_000383.3(AIRE):c.538+6C>T http://identifiers.org/clinvar/392573 ^@ NM_000088.3(COL1A1):c.1930G>A (p.Gly644Ser) http://identifiers.org/clinvar/392404 ^@ NM_000454.4(SOD1):c.106A>T (p.Ile36Phe) http://identifiers.org/clinvar/385127 ^@ NM_001111125.2(IQSEC2):c.120G>A (p.Gln40=) http://identifiers.org/clinvar/384321 ^@ NM_006306.3(SMC1A):c.3178G>A (p.Glu1060Lys) http://identifiers.org/clinvar/379226 ^@ NM_172201.1(KCNE2):c.317C>T (p.Ser106Leu) http://identifiers.org/clinvar/384752 ^@ NM_006306.3(SMC1A):c.1504G>A (p.Glu502Lys) http://identifiers.org/clinvar/377998 ^@ NM_000219.5(KCNE1):c.225C>T (p.Asn75=) http://identifiers.org/clinvar/392254 ^@ NM_000088.3(COL1A1):c.1875+8T>A http://identifiers.org/clinvar/387341 ^@ NM_000383.3(AIRE):c.1370G>A (p.Cys457Tyr) http://identifiers.org/clinvar/383940 ^@ NM_031407.6(HUWE1):c.7066C>T (p.Leu2356Phe) http://identifiers.org/clinvar/377981 ^@ NM_000211.4(ITGB2):c.148-16G>T http://identifiers.org/clinvar/389962 ^@ NM_001754.4(RUNX1):c.280A>C (p.Ser94Arg) http://identifiers.org/clinvar/390506 ^@ NM_000088.3(COL1A1):c.1515+6C>T http://identifiers.org/clinvar/381711 ^@ NM_001848.2(COL6A1):c.859G>A (p.Gly287Arg) http://identifiers.org/clinvar/377964 ^@ NM_000411.6(HLCS):c.*19C>T http://identifiers.org/clinvar/380457 ^@ NM_000088.3(COL1A1):c.588+16G>A http://identifiers.org/clinvar/392615 ^@ NM_031407.6(HUWE1):c.1528T>C (p.Ser510Pro) http://identifiers.org/clinvar/391315 ^@ NM_001848.2(COL6A1):c.1611+9G>A http://identifiers.org/clinvar/384159 ^@ NM_001848.2(COL6A1):c.1957-17C>T http://identifiers.org/clinvar/385064 ^@ NM_006612.5(KIF1C):c.1815G>A (p.Leu605=) http://identifiers.org/clinvar/388258 ^@ NM_000032.4(ALAS2):c.1647T>C (p.Asp549=) http://identifiers.org/clinvar/377963 ^@ NM_000411.6(HLCS):c.2010-19C>T http://identifiers.org/clinvar/392279 ^@ NM_001849.3(COL6A2):c.459C>T (p.Thr153=) http://identifiers.org/clinvar/380828 ^@ NM_006612.5(KIF1C):c.1938-4C>G http://identifiers.org/clinvar/387297 ^@ NM_001849.3(COL6A2):c.648C>T (p.Tyr216=) http://identifiers.org/clinvar/383663 ^@ NM_006612.5(KIF1C):c.2726C>A (p.Pro909Gln) http://identifiers.org/clinvar/377617 ^@ NM_018896.4(CACNA1G):c.1591C>A (p.Arg531=) http://identifiers.org/clinvar/389273 ^@ NM_001849.3(COL6A2):c.1117-9C>T http://identifiers.org/clinvar/379267 ^@ NM_000411.6(HLCS):c.1972A>G (p.Ser658Gly) http://identifiers.org/clinvar/390844 ^@ NM_001849.3(COL6A2):c.1770+11C>T http://identifiers.org/clinvar/387313 ^@ NM_001396.4(DYRK1A):c.-37C>T http://identifiers.org/clinvar/387883 ^@ NM_001849.3(COL6A2):c.2461+15C>T http://identifiers.org/clinvar/391285 ^@ NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) http://identifiers.org/clinvar/388475 ^@ NM_018896.4(CACNA1G):c.1771C>T (p.Pro591Ser) http://identifiers.org/clinvar/384341 ^@ NM_000032.4(ALAS2):c.1061C>T (p.Thr354Ile) http://identifiers.org/clinvar/383456 ^@ NM_000032.4(ALAS2):c.390A>G (p.Thr130=) http://identifiers.org/clinvar/383699 ^@ NM_015185.2(ARHGEF9):c.1485C>T (p.Thr495=) http://identifiers.org/clinvar/386994 ^@ NM_001396.4(DYRK1A):c.10+6T>G http://identifiers.org/clinvar/393153 ^@ NM_006657.2(FTCD):c.296T>C (p.Val99Ala) http://identifiers.org/clinvar/387354 ^@ NM_018896.4(CACNA1G):c.3553C>T (p.Arg1185Cys) http://identifiers.org/clinvar/385865 ^@ NM_006031.5(PCNT):c.1519C>G (p.Arg507Gly) http://identifiers.org/clinvar/391593 ^@ NM_015185.2(ARHGEF9):c.997G>A (p.Gly333Ser) http://identifiers.org/clinvar/383249 ^@ NM_001396.4(DYRK1A):c.390G>A (p.Lys130=) http://identifiers.org/clinvar/380879 ^@ NM_001128159.2(VPS53):c.2328+15A>G http://identifiers.org/clinvar/387659 ^@ NM_006031.5(PCNT):c.2991T>C (p.Phe997=) http://identifiers.org/clinvar/388569 ^@ NM_015185.2(ARHGEF9):c.726A>C (p.Pro242=) http://identifiers.org/clinvar/384134 ^@ NM_001128159.2(VPS53):c.1674G>A (p.Thr558=) http://identifiers.org/clinvar/380992 ^@ NM_006031.5(PCNT):c.3798C>T (p.Ala1266=) http://identifiers.org/clinvar/380878 ^@ NM_001128159.2(VPS53):c.1524C>T (p.Tyr508=) http://identifiers.org/clinvar/381277 ^@ NM_001396.4(DYRK1A):c.664+16A>G http://identifiers.org/clinvar/380300 ^@ NM_017777.3(MKS1):c.749+13A>G http://identifiers.org/clinvar/384006 ^@ NM_015185.2(ARHGEF9):c.562-18T>G http://identifiers.org/clinvar/389108 ^@ NM_015185.2(ARHGEF9):c.558G>A (p.Glu186=) http://identifiers.org/clinvar/389944 ^@ NM_015185.2(ARHGEF9):c.543A>T (p.Gly181=) http://identifiers.org/clinvar/389697 ^@ NM_015185.2(ARHGEF9):c.368A>G (p.Lys123Arg) http://identifiers.org/clinvar/389219 ^@ NM_001396.4(DYRK1A):c.822T>C (p.Leu274=) http://identifiers.org/clinvar/386184 ^@ NM_006031.5(PCNT):c.3924G>A (p.Lys1308=) http://identifiers.org/clinvar/383714 ^@ NM_006031.5(PCNT):c.4142C>T (p.Ala1381Val) http://identifiers.org/clinvar/388820 ^@ NM_001396.4(DYRK1A):c.952-8T>C http://identifiers.org/clinvar/386066 ^@ NM_058216.2(RAD51C):c.-42-7C>G http://identifiers.org/clinvar/388066 ^@ NM_058216.2(RAD51C):c.-22G>C http://identifiers.org/clinvar/383163 ^@ NM_001396.4(DYRK1A):c.1098+15G>A http://identifiers.org/clinvar/378458 ^@ NM_058216.2(RAD51C):c.-19G>A http://identifiers.org/clinvar/378459 ^@ NM_058216.2(RAD51C):c.-8A>G http://identifiers.org/clinvar/386399 ^@ NM_006031.5(PCNT):c.5115+11A>G http://identifiers.org/clinvar/388031 ^@ NM_001396.4(DYRK1A):c.1671+9G>A http://identifiers.org/clinvar/379474 ^@ NM_152424.3(AMER1):c.571G>T (p.Glu191Ter) http://identifiers.org/clinvar/381644 ^@ NM_000044.4(AR):c.2504A>G (p.Tyr835Cys) http://identifiers.org/clinvar/388844 ^@ NM_002547.2(OPHN1):c.1512A>C (p.Ile504=) http://identifiers.org/clinvar/380132 ^@ NM_006031.5(PCNT):c.7398G>A (p.Glu2466=) http://identifiers.org/clinvar/388116 ^@ NM_001396.4(DYRK1A):c.1672-12C>G http://identifiers.org/clinvar/380341 ^@ NM_058216.2(RAD51C):c.404+13G>A http://identifiers.org/clinvar/381897 ^@ NM_005120.2(MED12):c.100-19C>T http://identifiers.org/clinvar/392410 ^@ NM_005120.2(MED12):c.272G>T (p.Arg91Leu) http://identifiers.org/clinvar/378330 ^@ NM_006031.5(PCNT):c.8065-19G>A http://identifiers.org/clinvar/378971 ^@ NM_058216.2(RAD51C):c.453G>A (p.Val151=) http://identifiers.org/clinvar/390123 ^@ NM_006031.5(PCNT):c.8528T>G (p.Leu2843Arg) http://identifiers.org/clinvar/381160 ^@ NM_006031.5(PCNT):c.9352C>A (p.Pro3118Thr) http://identifiers.org/clinvar/385322 ^@ NM_058216.2(RAD51C):c.687C>T (p.Phe229=) http://identifiers.org/clinvar/388448 ^@ NM_018943.2(TUBA8):c.227-6T>C http://identifiers.org/clinvar/393133 ^@ NM_000071.2(CBS):c.1539C>G (p.His513Gln) http://identifiers.org/clinvar/392188 ^@ NM_016335.4(PRODH):c.1091A>G (p.Asp364Gly) http://identifiers.org/clinvar/377630 ^@ NM_000071.2(CBS):c.1223+13G>A http://identifiers.org/clinvar/381476 ^@ NM_000071.2(CBS):c.501C>T (p.Ile167=) http://identifiers.org/clinvar/386828 ^@ NM_005120.2(MED12):c.1349-11T>C http://identifiers.org/clinvar/385808 ^@ NM_005984.4(SLC25A1):c.786C>T (p.Cys262=) http://identifiers.org/clinvar/391849 ^@ NM_005120.2(MED12):c.1745-19C>T http://identifiers.org/clinvar/378460 ^@ NM_058216.2(RAD51C):c.705+14T>C http://identifiers.org/clinvar/382348 ^@ NM_000100.3(CSTB):c.180C>T (p.Gly60=) http://identifiers.org/clinvar/377458 ^@ NM_000383.3(AIRE):c.1345T>C (p.Cys449Arg) http://identifiers.org/clinvar/391620 ^@ NM_005120.2(MED12):c.1892C>T (p.Pro631Leu) http://identifiers.org/clinvar/377459 ^@ NM_000383.3(AIRE):c.1477G>A (p.Ala493Thr) http://identifiers.org/clinvar/388295 ^@ NM_058216.2(RAD51C):c.765G>C (p.Leu255=) http://identifiers.org/clinvar/381431 ^@ NM_005984.4(SLC25A1):c.95-70G>C http://identifiers.org/clinvar/381673 ^@ NM_000211.4(ITGB2):c.79A>T (p.Lys27Ter) http://identifiers.org/clinvar/387580 ^@ NM_001848.2(COL6A1):c.227+15C>T http://identifiers.org/clinvar/387929 ^@ NM_058216.2(RAD51C):c.966-12T>C http://identifiers.org/clinvar/383341 ^@ NM_015294.4(TRIM37):c.617-5A>G http://identifiers.org/clinvar/389277 ^@ NM_080647.1(TBX1):c.-3G>A http://identifiers.org/clinvar/382976 ^@ NM_016077.4(PTRH2):c.168A>G (p.Ala56=) http://identifiers.org/clinvar/384792 ^@ NM_001848.2(COL6A1):c.741C>A (p.Cys247Ter) http://identifiers.org/clinvar/392920 ^@ NM_003620.3(PPM1D):c.1267G>T (p.Glu423Ter) http://identifiers.org/clinvar/388801 ^@ NM_032043.2(BRIP1):c.3072G>A (p.Gly1024=) http://identifiers.org/clinvar/386569 ^@ NM_001848.2(COL6A1):c.930+20G>C http://identifiers.org/clinvar/381901 ^@ NM_005120.2(MED12):c.3699G>A (p.Ala1233=) http://identifiers.org/clinvar/388214 ^@ NM_001848.2(COL6A1):c.1675-16C>T http://identifiers.org/clinvar/380249 ^@ NM_032043.2(BRIP1):c.2906-15T>A http://identifiers.org/clinvar/391846 ^@ NM_032043.2(BRIP1):c.2847T>C (p.Pro949=) http://identifiers.org/clinvar/388036 ^@ NM_001848.2(COL6A1):c.1782C>T (p.Cys594=) http://identifiers.org/clinvar/379834 ^@ NM_053004.2(GNB1L):c.170G>A (p.Arg57Gln) http://identifiers.org/clinvar/379733 ^@ NM_001849.3(COL6A2):c.1572+1G>A http://identifiers.org/clinvar/381340 ^@ NM_032043.2(BRIP1):c.2576-7T>C http://identifiers.org/clinvar/389754 ^@ NM_006440.4(TXNRD2):c.1509G>A (p.Glu503=) http://identifiers.org/clinvar/387406 ^@ NM_001849.3(COL6A2):c.2423-18C>T http://identifiers.org/clinvar/385489 ^@ NM_001849.3(COL6A2):c.2754C>T (p.Gly918=) http://identifiers.org/clinvar/383565 ^@ NM_032043.2(BRIP1):c.2493-4C>G http://identifiers.org/clinvar/378933 ^@ NM_005120.2(MED12):c.3801C>T (p.Asn1267=) http://identifiers.org/clinvar/388088 ^@ NM_032043.2(BRIP1):c.2223G>T (p.Val741=) http://identifiers.org/clinvar/391127 ^@ NM_032043.2(BRIP1):c.2154G>A (p.Glu718=) http://identifiers.org/clinvar/388235 ^@ NM_006440.4(TXNRD2):c.1087-11C>T http://identifiers.org/clinvar/387164 ^@ NM_005120.2(MED12):c.3942T>C (p.Ser1314=) http://identifiers.org/clinvar/382577 ^@ NM_005120.2(MED12):c.4665G>A (p.Thr1555=) http://identifiers.org/clinvar/387218 ^@ NM_001849.3(COL6A2):c.2841C>T (p.Leu947=) http://identifiers.org/clinvar/382204 ^@ NM_005120.2(MED12):c.4831C>T (p.Arg1611Cys) http://identifiers.org/clinvar/377593 ^@ NM_032043.2(BRIP1):c.1566A>G (p.Ser522=) http://identifiers.org/clinvar/385565 ^@ NM_006031.5(PCNT):c.1640G>A (p.Gly547Glu) http://identifiers.org/clinvar/387436 ^@ NM_032043.2(BRIP1):c.1340+14T>C http://identifiers.org/clinvar/385736 ^@ NM_005120.2(MED12):c.4851G>A (p.Ala1617=) http://identifiers.org/clinvar/386398 ^@ NM_006031.5(PCNT):c.1761+14C>T http://identifiers.org/clinvar/377592 ^@ NM_032043.2(BRIP1):c.636C>A (p.Gly212=) http://identifiers.org/clinvar/381115 ^@ NM_032043.2(BRIP1):c.628-11C>G http://identifiers.org/clinvar/385615 ^@ NM_006031.5(PCNT):c.3553G>A (p.Glu1185Lys) http://identifiers.org/clinvar/381539 ^@ NM_005120.2(MED12):c.5659G>A (p.Gly1887Ser) http://identifiers.org/clinvar/380606 ^@ NM_000166.5(GJB1):c.-101C>T http://identifiers.org/clinvar/383958 ^@ NM_006031.5(PCNT):c.3647C>T (p.Pro1216Leu) http://identifiers.org/clinvar/385869 ^@ NM_006031.5(PCNT):c.3648G>A (p.Pro1216=) http://identifiers.org/clinvar/384718 ^@ NM_006440.4(TXNRD2):c.774+14C>A http://identifiers.org/clinvar/384473 ^@ NM_000166.5(GJB1):c.-77G>A http://identifiers.org/clinvar/380814 ^@ NM_000166.5(GJB1):c.-17+116C>T http://identifiers.org/clinvar/390757 ^@ NM_006440.4(TXNRD2):c.745C>T (p.Arg249Cys) http://identifiers.org/clinvar/384717 ^@ NM_006440.4(TXNRD2):c.662+13C>T http://identifiers.org/clinvar/387009 ^@ NM_002637.3(PHKA1):c.3540C>T (p.Pro1180=) http://identifiers.org/clinvar/378328 ^@ NM_006031.5(PCNT):c.5253C>G (p.His1751Gln) http://identifiers.org/clinvar/386317 ^@ NM_006440.4(TXNRD2):c.526G>C (p.Glu176Gln) http://identifiers.org/clinvar/387654 ^@ NM_002637.3(PHKA1):c.2637G>A (p.Leu879=) http://identifiers.org/clinvar/382740 ^@ NM_006031.5(PCNT):c.5710G>A (p.Ala1904Thr) http://identifiers.org/clinvar/389256 ^@ NM_032043.2(BRIP1):c.507+10G>A http://identifiers.org/clinvar/385161 ^@ NM_002637.3(PHKA1):c.1938T>C (p.Asn646=) http://identifiers.org/clinvar/382306 ^@ NM_032043.2(BRIP1):c.408A>C (p.Ala136=) http://identifiers.org/clinvar/386475 ^@ NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=) http://identifiers.org/clinvar/385718 ^@ NM_002637.3(PHKA1):c.1383C>T (p.Tyr461=) http://identifiers.org/clinvar/391710 ^@ NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) http://identifiers.org/clinvar/392988 ^@ NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu) http://identifiers.org/clinvar/379828 ^@ NM_002637.3(PHKA1):c.1079T>C (p.Ile360Thr) http://identifiers.org/clinvar/378699 ^@ NM_152906.6(TANGO2):c.77G>A (p.Arg26Lys) http://identifiers.org/clinvar/378700 ^@ NM_152906.6(TANGO2):c.94C>T (p.Arg32Ter) http://identifiers.org/clinvar/392534 ^@ NM_000334.4(SCN4A):c.2055G>A (p.Thr685=) http://identifiers.org/clinvar/389662 ^@ NM_006767.3(LZTR1):c.-11G>A http://identifiers.org/clinvar/379413 ^@ NM_006767.3(LZTR1):c.994-18T>C http://identifiers.org/clinvar/387494 ^@ NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) http://identifiers.org/clinvar/393238 ^@ NM_001008537.2(KIAA2022):c.4228C>T (p.Pro1410Ser) http://identifiers.org/clinvar/385870 ^@ NM_006031.5(PCNT):c.5736C>T (p.Ala1912=) http://identifiers.org/clinvar/391423 ^@ NM_004299.4(ABCB7):c.1640G>A (p.Arg547Lys) http://identifiers.org/clinvar/384271 ^@ NM_004299.4(ABCB7):c.364A>G (p.Ile122Val) http://identifiers.org/clinvar/391348 ^@ NM_006767.3(LZTR1):c.1250A>C (p.Tyr417Ser) http://identifiers.org/clinvar/379429 ^@ NM_006767.3(LZTR1):c.1683C>T (p.Arg561=) http://identifiers.org/clinvar/385410 ^@ NM_004299.4(ABCB7):c.111A>T (p.Ser37=) http://identifiers.org/clinvar/379953 ^@ NM_213720.2(CHCHD10):c.312C>T (p.Tyr104=) http://identifiers.org/clinvar/379952 ^@ NM_213720.2(CHCHD10):c.261+11A>G http://identifiers.org/clinvar/388178 ^@ NM_006031.5(PCNT):c.7162C>T (p.Arg2388Cys) http://identifiers.org/clinvar/388285 ^@ NM_007194.3(CHEK2):c.*19G>A http://identifiers.org/clinvar/387933 ^@ NM_000489.4(ATRX):c.4905G>T (p.Met1635Ile) http://identifiers.org/clinvar/387091 ^@ NM_000489.4(ATRX):c.3670C>G (p.Gln1224Glu) http://identifiers.org/clinvar/380133 ^@ NM_006031.5(PCNT):c.7914-5C>T http://identifiers.org/clinvar/382258 ^@ NM_007194.3(CHEK2):c.1611T>A (p.Ala537=) http://identifiers.org/clinvar/383864 ^@ NM_018943.2(TUBA8):c.468C>T (p.Arg156=) http://identifiers.org/clinvar/386248 ^@ NM_000334.4(SCN4A):c.1593C>T (p.Ser531=) http://identifiers.org/clinvar/385477 ^@ NM_000334.4(SCN4A):c.1453-4A>G http://identifiers.org/clinvar/388251 ^@ NM_007194.3(CHEK2):c.1542+16A>G http://identifiers.org/clinvar/385566 ^@ NM_018943.2(TUBA8):c.546G>A (p.Val182=) http://identifiers.org/clinvar/390054 ^@ NM_000489.4(ATRX):c.1478A>G (p.His493Arg) http://identifiers.org/clinvar/389089 ^@ NM_000489.4(ATRX):c.1236C>A (p.Asp412Glu) http://identifiers.org/clinvar/389803 ^@ NM_005984.4(SLC25A1):c.777G>C (p.Thr259=) http://identifiers.org/clinvar/389083 ^@ NM_007194.3(CHEK2):c.1299A>G (p.Gln433=) http://identifiers.org/clinvar/387402 ^@ NM_000052.6(ATP7A):c.278C>G (p.Thr93Arg) http://identifiers.org/clinvar/384209 ^@ NM_007215.3(POLG2):c.562+11C>T http://identifiers.org/clinvar/386499 ^@ NM_000052.6(ATP7A):c.1142T>G (p.Ile381Arg) http://identifiers.org/clinvar/389280 ^@ NM_000052.6(ATP7A):c.1534C>T (p.Arg512Trp) http://identifiers.org/clinvar/382317 ^@ NM_004655.3(AXIN2):c.*5T>G http://identifiers.org/clinvar/392682 ^@ NM_000052.6(ATP7A):c.1630G>C (p.Glu544Gln) http://identifiers.org/clinvar/384813 ^@ NM_000052.6(ATP7A):c.1737A>G (p.Val579=) http://identifiers.org/clinvar/387868 ^@ NM_000052.6(ATP7A):c.2939G>A (p.Arg980Gln) http://identifiers.org/clinvar/385102 ^@ NM_004655.3(AXIN2):c.2343G>A (p.Leu781=) http://identifiers.org/clinvar/377660 ^@ NM_007194.3(CHEK2):c.1197T>C (p.Val399=) http://identifiers.org/clinvar/383801 ^@ NM_007194.3(CHEK2):c.1009-4G>A http://identifiers.org/clinvar/386532 ^@ NM_004655.3(AXIN2):c.2100C>T (p.Ala700=) http://identifiers.org/clinvar/392652 ^@ NM_004655.3(AXIN2):c.1908-13A>T http://identifiers.org/clinvar/382960 ^@ NM_005984.4(SLC25A1):c.95-131C>G http://identifiers.org/clinvar/382757 ^@ NM_004655.3(AXIN2):c.1201-12C>T http://identifiers.org/clinvar/389212 ^@ NM_004655.3(AXIN2):c.1200+9G>T http://identifiers.org/clinvar/392215 ^@ NM_000052.6(ATP7A):c.3112G>A (p.Val1038Ile) http://identifiers.org/clinvar/379291 ^@ NM_000216.3(ANOS1):c.1283C>T (p.Pro428Leu) http://identifiers.org/clinvar/384120 ^@ NM_007194.3(CHEK2):c.978C>T (p.Leu326=) http://identifiers.org/clinvar/380543 ^@ NM_007194.3(CHEK2):c.908+19A>T http://identifiers.org/clinvar/389953 ^@ NM_000390.3(CHM):c.315-4441G>C http://identifiers.org/clinvar/388086 ^@ NM_004655.3(AXIN2):c.831C>T (p.Ser277=) http://identifiers.org/clinvar/377542 ^@ NM_004655.3(AXIN2):c.645C>T (p.Leu215=) http://identifiers.org/clinvar/377658 ^@ NM_007194.3(CHEK2):c.847-7T>G http://identifiers.org/clinvar/391425 ^@ NM_007194.3(CHEK2):c.846+12T>C http://identifiers.org/clinvar/381228 ^@ NM_004655.3(AXIN2):c.402C>T (p.Ile134=) http://identifiers.org/clinvar/382278 ^@ NM_005984.4(SLC25A1):c.-16C>T http://identifiers.org/clinvar/386270 ^@ NM_004655.3(AXIN2):c.-3A>G http://identifiers.org/clinvar/390917 ^@ NM_007194.3(CHEK2):c.593-16C>T http://identifiers.org/clinvar/389528 ^@ NM_001128159.2(VPS53):c.488+12C>T http://identifiers.org/clinvar/392937 ^@ NM_080647.1(TBX1):c.410+11C>T http://identifiers.org/clinvar/384727 ^@ NM_006440.4(TXNRD2):c.1347+20A>G http://identifiers.org/clinvar/383584 ^@ NM_177550.4(SLC13A5):c.1461G>A (p.Pro487=) http://identifiers.org/clinvar/392776 ^@ NM_006440.4(TXNRD2):c.1182+19C>T http://identifiers.org/clinvar/384716 ^@ NM_006440.4(TXNRD2):c.662+14G>A http://identifiers.org/clinvar/386647 ^@ NM_007194.3(CHEK2):c.433C>A (p.Arg145=) http://identifiers.org/clinvar/389515 ^@ NM_000216.3(ANOS1):c.463A>G (p.Asn155Asp) http://identifiers.org/clinvar/386145 ^@ NM_007194.3(CHEK2):c.390G>A (p.Leu130=) http://identifiers.org/clinvar/379873 ^@ NM_000390.3(CHM):c.133G>T (p.Gly45Ter) http://identifiers.org/clinvar/383133 ^@ NM_177550.4(SLC13A5):c.1365C>T (p.Leu455=) http://identifiers.org/clinvar/390224 ^@ NM_006440.4(TXNRD2):c.529-6C>T http://identifiers.org/clinvar/391339 ^@ NM_007194.3(CHEK2):c.319+8C>A http://identifiers.org/clinvar/392866 ^@ NM_007194.3(CHEK2):c.213C>G (p.Leu71=) http://identifiers.org/clinvar/386316 ^@ NM_006440.4(TXNRD2):c.375-19T>G http://identifiers.org/clinvar/381543 ^@ NM_007194.3(CHEK2):c.99A>G (p.Ser33=) http://identifiers.org/clinvar/380112 ^@ NM_007194.3(CHEK2):c.-7+10A>G http://identifiers.org/clinvar/389390 ^@ NM_006440.4(TXNRD2):c.103+19G>A http://identifiers.org/clinvar/381773 ^@ NM_007194.3(CHEK2):c.-28C>T http://identifiers.org/clinvar/379392 ^@ NM_006767.3(LZTR1):c.210G>A (p.Lys70=) http://identifiers.org/clinvar/391964 ^@ NM_000268.3(NF2):c.114+20G>T http://identifiers.org/clinvar/390570 ^@ NM_006767.3(LZTR1):c.320+13G>T http://identifiers.org/clinvar/383885 ^@ NM_177550.4(SLC13A5):c.1290C>T (p.Ser430=) http://identifiers.org/clinvar/385837 ^@ NM_177550.4(SLC13A5):c.1276-19C>A http://identifiers.org/clinvar/389225 ^@ NM_004737.5(LARGE1):c.492-8C>T http://identifiers.org/clinvar/382770 ^@ NM_004737.5(LARGE1):c.492-11A>G http://identifiers.org/clinvar/380900 ^@ NM_177550.4(SLC13A5):c.1092C>T (p.Ala364=) http://identifiers.org/clinvar/383100 ^@ NM_177550.4(SLC13A5):c.1055+15C>A http://identifiers.org/clinvar/387678 ^@ NM_177550.4(SLC13A5):c.681G>A (p.Thr227=) http://identifiers.org/clinvar/383927 ^@ NM_000026.3(ADSL):c.-8G>A http://identifiers.org/clinvar/391996 ^@ NM_006767.3(LZTR1):c.906G>A (p.Ala302=) http://identifiers.org/clinvar/389577 ^@ NM_003073.4(SMARCB1):c.461A>G (p.Asn154Ser) http://identifiers.org/clinvar/380738 ^@ NM_000026.3(ADSL):c.403-11C>T http://identifiers.org/clinvar/380898 ^@ NM_177550.4(SLC13A5):c.426G>A (p.Thr142=) http://identifiers.org/clinvar/388708 ^@ NM_003073.4(SMARCB1):c.1119-13A>G http://identifiers.org/clinvar/385204 ^@ NM_000026.3(ADSL):c.793-5C>A http://identifiers.org/clinvar/379159 ^@ NM_007194.3(CHEK2):c.*6G>A http://identifiers.org/clinvar/391166 ^@ NM_177550.4(SLC13A5):c.390C>A (p.Gly130=) http://identifiers.org/clinvar/392565 ^@ NM_177550.4(SLC13A5):c.120C>T (p.Tyr40=) http://identifiers.org/clinvar/383577 ^@ NM_007194.3(CHEK2):c.1543-20C>G http://identifiers.org/clinvar/381550 ^@ NM_000026.3(ADSL):c.1120C>T (p.Arg374Trp) http://identifiers.org/clinvar/380871 ^@ NM_177550.4(SLC13A5):c.-17A>C http://identifiers.org/clinvar/386442 ^@ NM_000026.3(ADSL):c.1191+9C>T http://identifiers.org/clinvar/386682 ^@ NM_000026.3(ADSL):c.1272A>T (p.Ile424=) http://identifiers.org/clinvar/391918 ^@ NM_000026.3(ADSL):c.1279A>G (p.Ile427Val) http://identifiers.org/clinvar/386125 ^@ NM_002734.4(PRKAR1A):c.-49G>T http://identifiers.org/clinvar/388240 ^@ NM_007194.3(CHEK2):c.1476G>A (p.Lys492=) http://identifiers.org/clinvar/392724 ^@ NM_017565.3(FAM20A):c.394C>G (p.Arg132Gly) http://identifiers.org/clinvar/384460 ^@ NM_007194.3(CHEK2):c.1461+8T>C http://identifiers.org/clinvar/389292 ^@ NM_000891.2(KCNJ2):c.858C>T (p.Asp286=) http://identifiers.org/clinvar/378921 ^@ NM_000891.2(KCNJ2):c.901A>C (p.Met301Leu) http://identifiers.org/clinvar/386147 ^@ NM_007194.3(CHEK2):c.1375+8T>A http://identifiers.org/clinvar/388769 ^@ NM_000026.3(ADSL):c.1340C>T (p.Ser447Phe) http://identifiers.org/clinvar/380893 ^@ NM_001128159.2(VPS53):c.-44G>A http://identifiers.org/clinvar/388313 ^@ NM_000026.3(ADSL):c.1369-17T>C http://identifiers.org/clinvar/379199 ^@ NM_007194.3(CHEK2):c.1362A>G (p.Glu454=) http://identifiers.org/clinvar/378637 ^@ NM_000346.3(SOX9):c.276G>T (p.Pro92=) http://identifiers.org/clinvar/382704 ^@ NM_007194.3(CHEK2):c.1116C>A (p.Ser372=) http://identifiers.org/clinvar/377424 ^@ NM_001098.2(ACO2):c.120C>T (p.Asn40=) http://identifiers.org/clinvar/383052 ^@ NM_000018.3(ACADVL):c.663C>T (p.Ser221=) http://identifiers.org/clinvar/379019 ^@ NM_007194.3(CHEK2):c.942G>A (p.Val314=) http://identifiers.org/clinvar/390390 ^@ NM_007194.3(CHEK2):c.918G>C (p.Gly306=) http://identifiers.org/clinvar/388724 ^@ NM_000018.3(ACADVL):c.1333-3T>C http://identifiers.org/clinvar/389993 ^@ NM_007194.3(CHEK2):c.792+17G>A http://identifiers.org/clinvar/378846 ^@ NM_006953.3(UPK3A):c.628G>A (p.Val210Ile) http://identifiers.org/clinvar/377657 ^@ NM_007194.3(CHEK2):c.684-20A>G http://identifiers.org/clinvar/379545 ^@ NM_000018.3(ACADVL):c.1751+18G>A http://identifiers.org/clinvar/393172 ^@ NM_018006.4(TRMU):c.246C>G (p.Phe82Leu) http://identifiers.org/clinvar/384235 ^@ NM_000018.3(ACADVL):c.1827+8T>C http://identifiers.org/clinvar/379145 ^@ NM_000018.3(ACADVL):c.1843C>T (p.Arg615Ter) http://identifiers.org/clinvar/382283 ^@ NM_007194.3(CHEK2):c.592+13T>C http://identifiers.org/clinvar/384785 ^@ NM_007194.3(CHEK2):c.592+9A>G http://identifiers.org/clinvar/388894 ^@ NM_015971.3(MRPS7):c.84-14T>C http://identifiers.org/clinvar/381959 ^@ NM_007194.3(CHEK2):c.504C>T (p.Thr168=) http://identifiers.org/clinvar/383965 ^@ NM_024105.3(ALG12):c.818G>A (p.Gly273Asp) http://identifiers.org/clinvar/387367 ^@ NM_005198.4(CHKB):c.447+12G>C http://identifiers.org/clinvar/379885 ^@ NM_007194.3(CHEK2):c.-20G>C http://identifiers.org/clinvar/382414 ^@ NM_015971.3(MRPS7):c.84-8C>G http://identifiers.org/clinvar/392386 ^@ NM_015971.3(MRPS7):c.117T>C (p.Pro39=) http://identifiers.org/clinvar/388744 ^@ NM_005198.4(CHKB):c.38C>T (p.Ala13Val) http://identifiers.org/clinvar/382075 ^@ NM_015971.3(MRPS7):c.508-4C>T http://identifiers.org/clinvar/383108 ^@ NM_001184880.1(PCDH19):c.2288+9G>T http://identifiers.org/clinvar/385881 ^@ NM_007194.3(CHEK2):c.-27G>A http://identifiers.org/clinvar/381090 ^@ NM_007194.3(CHEK2):c.-28C>A http://identifiers.org/clinvar/390564 ^@ NM_021734.4(SLC25A19):c.567C>T (p.Ala189=) http://identifiers.org/clinvar/388659 ^@ NM_021734.4(SLC25A19):c.133-5C>T http://identifiers.org/clinvar/391287 ^@ NM_001184880.1(PCDH19):c.2223G>A (p.Ser741=) http://identifiers.org/clinvar/380283 ^@ NM_001184880.1(PCDH19):c.1656C>G (p.Ile552Met) http://identifiers.org/clinvar/385259 ^@ NM_000268.3(NF2):c.705A>C (p.Gly235=) http://identifiers.org/clinvar/390549 ^@ NM_000268.3(NF2):c.795G>T (p.Ser265=) http://identifiers.org/clinvar/388858 ^@ NM_001184880.1(PCDH19):c.321C>T (p.Ser107=) http://identifiers.org/clinvar/390017 ^@ NM_001184880.1(PCDH19):c.51G>A (p.Thr17=) http://identifiers.org/clinvar/389197 ^@ NM_004870.3(MPDU1):c.12G>A (p.Glu4=) http://identifiers.org/clinvar/393183 ^@ NM_000268.3(NF2):c.1012C>T (p.Arg338Cys) http://identifiers.org/clinvar/378669 ^@ NM_014467.2(SRPX2):c.323G>A (p.Ser108Asn) http://identifiers.org/clinvar/387361 ^@ NM_004870.3(MPDU1):c.618+14C>T http://identifiers.org/clinvar/379478 ^@ NM_000061.2(BTK):c.669T>A (p.Tyr223Ter) http://identifiers.org/clinvar/391802 ^@ NM_001242896.1(DEPDC5):c.562+1G>A http://identifiers.org/clinvar/390677 ^@ NM_004737.5(LARGE1):c.787+14A>T http://identifiers.org/clinvar/384483 ^@ NM_004737.5(LARGE1):c.717C>T (p.Ile239=) http://identifiers.org/clinvar/384516 ^@ NM_000546.5(TP53):c.*15T>C http://identifiers.org/clinvar/383718 ^@ NM_004737.5(LARGE1):c.333C>T (p.Ser111=) http://identifiers.org/clinvar/381768 ^@ NM_000546.5(TP53):c.1101-3C>T http://identifiers.org/clinvar/378748 ^@ NM_000546.5(TP53):c.984C>T (p.Phe328=) http://identifiers.org/clinvar/378455 ^@ NM_002872.4(RAC2):c.449-18G>T http://identifiers.org/clinvar/381633 ^@ NM_000061.2(BTK):c.370T>C (p.Trp124Arg) http://identifiers.org/clinvar/385655 ^@ NM_000169.2(GLA):c.640-731G>A http://identifiers.org/clinvar/388913 ^@ NM_000546.5(TP53):c.920-11C>T http://identifiers.org/clinvar/381614 ^@ NM_003560.2(PLA2G6):c.404T>C (p.Phe135Ser) http://identifiers.org/clinvar/382336 ^@ NM_000026.3(ADSL):c.20A>G (p.His7Arg) http://identifiers.org/clinvar/378747 ^@ NM_000546.5(TP53):c.919+17A>G http://identifiers.org/clinvar/389753 ^@ NM_000546.5(TP53):c.919+15C>G http://identifiers.org/clinvar/387437 ^@ NM_000546.5(TP53):c.919+7A>C http://identifiers.org/clinvar/384686 ^@ NM_000546.5(TP53):c.900C>G (p.Pro300=) http://identifiers.org/clinvar/379148 ^@ NM_000169.2(GLA):c.-13G>C http://identifiers.org/clinvar/382330 ^@ NM_000026.3(ADSL):c.101A>G (p.Tyr34Cys) http://identifiers.org/clinvar/391633 ^@ NM_000026.3(ADSL):c.153+7G>A http://identifiers.org/clinvar/379471 ^@ NM_000546.5(TP53):c.880G>T (p.Glu294Ter) http://identifiers.org/clinvar/390250 ^@ NM_001830.3(CLCN4):c.144+6T>A http://identifiers.org/clinvar/389644 ^@ NM_000546.5(TP53):c.325T>G (p.Phe109Val) http://identifiers.org/clinvar/378139 ^@ NM_000381.3(MID1):c.1679A>G (p.Lys560Arg) http://identifiers.org/clinvar/390266 ^@ NM_000546.5(TP53):c.156A>G (p.Gln52=) http://identifiers.org/clinvar/383695 ^@ NM_000026.3(ADSL):c.358-5C>T http://identifiers.org/clinvar/379265 ^@ NM_000546.5(TP53):c.96+15T>C http://identifiers.org/clinvar/384756 ^@ NM_033380.2(COL4A5):c.3604G>T (p.Gly1202Cys) http://identifiers.org/clinvar/380722 ^@ NM_004458.2(ACSL4):c.616A>G (p.Met206Val) http://identifiers.org/clinvar/383011 ^@ NM_004458.2(ACSL4):c.556T>C (p.Tyr186His) http://identifiers.org/clinvar/393034 ^@ NM_000026.3(ADSL):c.563G>A (p.Arg188His) http://identifiers.org/clinvar/380780 ^@ NM_000026.3(ADSL):c.1089C>T (p.Val363=) http://identifiers.org/clinvar/390355 ^@ NM_000026.3(ADSL):c.1191+11C>A http://identifiers.org/clinvar/384414 ^@ NM_000152.4(GAA):c.-116C>T http://identifiers.org/clinvar/385251 ^@ NM_000152.4(GAA):c.867G>A (p.Ala289=) http://identifiers.org/clinvar/384621 ^@ NM_178153.2(DCX):c.96C>T (p.Ser32=) http://identifiers.org/clinvar/379593 ^@ NM_000152.4(GAA):c.1478C>T (p.Pro493Leu) http://identifiers.org/clinvar/383034 ^@ NM_000152.4(GAA):c.1754+17G>A http://identifiers.org/clinvar/387669 ^@ NM_001099922.2(ALG13):c.-27G>A http://identifiers.org/clinvar/383946 ^@ NM_000026.3(ADSL):c.1414T>C (p.Tyr472His) http://identifiers.org/clinvar/386700 ^@ NM_001099922.2(ALG13):c.59T>C (p.Val20Ala) http://identifiers.org/clinvar/380965 ^@ NM_001098.2(ACO2):c.1605+7G>A http://identifiers.org/clinvar/383976 ^@ NM_001099922.2(ALG13):c.150C>T (p.Pro50=) http://identifiers.org/clinvar/380511 ^@ NM_000152.4(GAA):c.1755-18T>C http://identifiers.org/clinvar/385875 ^@ NM_001099922.2(ALG13):c.273A>G (p.Glu91=) http://identifiers.org/clinvar/385206 ^@ NM_001099922.2(ALG13):c.355G>C (p.Glu119Gln) http://identifiers.org/clinvar/391302 ^@ NM_001099922.2(ALG13):c.360T>C (p.Gly120=) http://identifiers.org/clinvar/382136 ^@ NM_001099922.2(ALG13):c.383+1029A>G http://identifiers.org/clinvar/377428 ^@ NM_001098.2(ACO2):c.1605+12C>T http://identifiers.org/clinvar/384230 ^@ NM_018006.4(TRMU):c.-36C>G http://identifiers.org/clinvar/383301 ^@ NM_018006.4(TRMU):c.248+19A>C http://identifiers.org/clinvar/385135 ^@ NM_001099922.2(ALG13):c.486T>C (p.Phe162=) http://identifiers.org/clinvar/388414 ^@ NM_018006.4(TRMU):c.942G>A (p.Ala314=) http://identifiers.org/clinvar/381446 ^@ NM_001099922.2(ALG13):c.638G>A (p.Ser213Asn) http://identifiers.org/clinvar/392634 ^@ NM_000152.4(GAA):c.1882G>T (p.Val628Leu) http://identifiers.org/clinvar/389963 ^@ NM_001099922.2(ALG13):c.1831C>G (p.Leu611Val) http://identifiers.org/clinvar/378567 ^@ NM_005138.2(SCO2):c.537C>G (p.Arg179=) http://identifiers.org/clinvar/378841 ^@ NM_001953.4(TYMP):c.1071C>T (p.Ala357=) http://identifiers.org/clinvar/379699 ^@ NM_021628.2(ALOXE3):c.1786-2A>G http://identifiers.org/clinvar/382912 ^@ NM_001614.3(ACTG1):c.735C>T (p.Gly245=) http://identifiers.org/clinvar/383125 ^@ NM_001099922.2(ALG13):c.1922A>G (p.His641Arg) http://identifiers.org/clinvar/387582 ^@ NM_001099922.2(ALG13):c.2248-11C>T http://identifiers.org/clinvar/384855 ^@ NM_001099922.2(ALG13):c.2695+15G>C http://identifiers.org/clinvar/389526 ^@ NM_001099922.2(ALG13):c.2754A>G (p.Leu918=) http://identifiers.org/clinvar/379382 ^@ NM_001614.3(ACTG1):c.690C>T (p.Ala230=) http://identifiers.org/clinvar/386183 ^@ NM_001099922.2(ALG13):c.2898T>C (p.Tyr966=) http://identifiers.org/clinvar/382092 ^@ NM_001953.4(TYMP):c.215-8C>T http://identifiers.org/clinvar/379381 ^@ NM_001614.3(ACTG1):c.609G>A (p.Thr203=) http://identifiers.org/clinvar/383977 ^@ NM_001099922.2(ALG13):c.2933-15G>T http://identifiers.org/clinvar/386044 ^@ NM_005198.4(CHKB):c.648C>T (p.Tyr216=) http://identifiers.org/clinvar/390901 ^@ NM_001099922.2(ALG13):c.3008A>G (p.Tyr1003Cys) http://identifiers.org/clinvar/389981 ^@ NM_000686.4(AGTR2):c.298T>C (p.Trp100Arg) http://identifiers.org/clinvar/381155 ^@ NM_002294.2(LAMP2):c.1191T>C (p.Phe397=) http://identifiers.org/clinvar/379380 ^@ NM_001614.3(ACTG1):c.558C>T (p.Thr186=) http://identifiers.org/clinvar/383112 ^@ NM_005198.4(CHKB):c.354A>G (p.Leu118=) http://identifiers.org/clinvar/386148 ^@ NM_001614.3(ACTG1):c.534G>A (p.Leu178=) http://identifiers.org/clinvar/383214 ^@ NM_005198.4(CHKB):c.14C>T (p.Ala5Val) http://identifiers.org/clinvar/381734 ^@ NM_001184880.1(PCDH19):c.2147+16C>T http://identifiers.org/clinvar/382013 ^@ NM_002294.2(LAMP2):c.771T>C (p.Asn257=) http://identifiers.org/clinvar/379424 ^@ NM_001614.3(ACTG1):c.126C>T (p.Gly42=) http://identifiers.org/clinvar/382117 ^@ NM_001184880.1(PCDH19):c.1815C>T (p.Tyr605=) http://identifiers.org/clinvar/379589 ^@ NM_002294.2(LAMP2):c.204C>G (p.Asp68Glu) http://identifiers.org/clinvar/382898 ^@ NM_001614.3(ACTG1):c.105C>T (p.Val35=) http://identifiers.org/clinvar/386371 ^@ NM_001614.3(ACTG1):c.-6-16A>G http://identifiers.org/clinvar/383685 ^@ NM_001184880.1(PCDH19):c.1569C>T (p.His523=) http://identifiers.org/clinvar/392310 ^@ NM_002294.2(LAMP2):c.65-3C>T http://identifiers.org/clinvar/386761 ^@ NM_003588.3(CUL4B):c.26G>A (p.Gly9Glu) http://identifiers.org/clinvar/386710 ^@ NM_001614.3(ACTG1):c.-27C>T http://identifiers.org/clinvar/392675 ^@ NM_001614.3(ACTG1):c.-28C>T http://identifiers.org/clinvar/391361 ^@ NM_000828.4(GRIA3):c.1999A>G (p.Ser667Gly) http://identifiers.org/clinvar/379858 ^@ NM_001184880.1(PCDH19):c.825C>A (p.Tyr275Ter) http://identifiers.org/clinvar/383470 ^@ NM_021946.4(BCORL1):c.1487C>T (p.Ser496Phe) http://identifiers.org/clinvar/393037 ^@ NM_001184880.1(PCDH19):c.799G>T (p.Glu267Ter) http://identifiers.org/clinvar/384972 ^@ NM_021946.4(BCORL1):c.2863A>C (p.Ser955Arg) http://identifiers.org/clinvar/386901 ^@ NM_021946.4(BCORL1):c.3593A>C (p.Asp1198Ala) http://identifiers.org/clinvar/381960 ^@ NM_021946.4(BCORL1):c.4925G>A (p.Arg1642Gln) http://identifiers.org/clinvar/384952 ^@ NM_001614.3(ACTG1):c.-43T>A http://identifiers.org/clinvar/386118 ^@ NM_001184880.1(PCDH19):c.798C>T (p.Asp266=) http://identifiers.org/clinvar/382781 ^@ NM_004208.3(AIFM1):c.1075+20A>G http://identifiers.org/clinvar/391122 ^@ NM_032458.2(PHF6):c.399A>G (p.Lys133=) http://identifiers.org/clinvar/381093 ^@ NM_001184880.1(PCDH19):c.309C>G (p.Leu103=) http://identifiers.org/clinvar/383439 ^@ NM_006359.2(SLC9A6):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/380556 ^@ NM_002949.3(MRPL12):c.-30A>C http://identifiers.org/clinvar/384219 ^@ NM_002949.3(MRPL12):c.75-6G>A http://identifiers.org/clinvar/389942 ^@ NM_006359.2(SLC9A6):c.198C>T (p.Ser66=) http://identifiers.org/clinvar/381440 ^@ NM_002949.3(MRPL12):c.99C>T (p.Ala33=) http://identifiers.org/clinvar/390427 ^@ NM_002949.3(MRPL12):c.576C>T (p.Gly192=) http://identifiers.org/clinvar/379773 ^@ NM_006359.2(SLC9A6):c.213C>T (p.Ser71=) http://identifiers.org/clinvar/384101 ^@ NM_000061.2(BTK):c.1823A>G (p.Glu608Gly) http://identifiers.org/clinvar/384005 ^@ NM_000061.2(BTK):c.1697C>T (p.Pro566Leu) http://identifiers.org/clinvar/388591 ^@ NM_006359.2(SLC9A6):c.1203G>A (p.Leu401=) http://identifiers.org/clinvar/381260 ^@ NM_006359.2(SLC9A6):c.1520+14A>G http://identifiers.org/clinvar/379335 ^@ NM_000061.2(BTK):c.1580G>C (p.Cys527Ser) http://identifiers.org/clinvar/386764 ^@ NM_000169.2(GLA):c.984G>T (p.Gly328=) http://identifiers.org/clinvar/390572 ^@ NM_006907.3(PYCR1):c.798-6C>T http://identifiers.org/clinvar/391549 ^@ NM_001449.4(FHL1):c.689-9T>C http://identifiers.org/clinvar/381652 ^@ NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) http://identifiers.org/clinvar/386431 ^@ NM_002764.3(PRPS1):c.177T>A (p.Gly59=) http://identifiers.org/clinvar/392011 ^@ NM_002764.3(PRPS1):c.705-6C>T http://identifiers.org/clinvar/392087 ^@ NM_016492.4(RANGRF):c.-45A>C http://identifiers.org/clinvar/389299 ^@ NM_016492.4(RANGRF):c.351+10C>T http://identifiers.org/clinvar/392642 ^@ NM_022068.3(PIEZO2):c.3377C>A (p.Thr1126Asn) http://identifiers.org/clinvar/387251 ^@ NM_006796.2(AFG3L2):c.1933G>A (p.Gly645Ser) http://identifiers.org/clinvar/384755 ^@ NM_033380.2(COL4A5):c.3554-5G>C http://identifiers.org/clinvar/381189 ^@ NM_012282.3(KCNE5):c.97C>T (p.Pro33Ser) http://identifiers.org/clinvar/386505 ^@ NM_004458.2(ACSL4):c.1163A>G (p.Lys388Arg) http://identifiers.org/clinvar/392494 ^@ NM_006796.2(AFG3L2):c.1780G>A (p.Val594Ile) http://identifiers.org/clinvar/381396 ^@ NM_006796.2(AFG3L2):c.1318+7G>A http://identifiers.org/clinvar/380294 ^@ NM_006796.2(AFG3L2):c.841A>G (p.Thr281Ala) http://identifiers.org/clinvar/385029 ^@ NM_006796.2(AFG3L2):c.-42G>A http://identifiers.org/clinvar/388195 ^@ NM_001099922.2(ALG13):c.588T>G (p.Pro196=) http://identifiers.org/clinvar/388267 ^@ NM_001099922.2(ALG13):c.886-17A>G http://identifiers.org/clinvar/390188 ^@ NM_004840.2(ARHGEF6):c.2035+5G>C http://identifiers.org/clinvar/388325 ^@ NM_001099922.2(ALG13):c.886-16C>A http://identifiers.org/clinvar/387108 ^@ NM_004840.2(ARHGEF6):c.34A>T (p.Ile12Leu) http://identifiers.org/clinvar/390653 ^@ NM_001099922.2(ALG13):c.1087+18A>G http://identifiers.org/clinvar/391981 ^@ NM_000133.3(F9):c.637A>T (p.Asn213Tyr) http://identifiers.org/clinvar/387381 ^@ NM_002025.3(AFF2):c.1262+6T>C http://identifiers.org/clinvar/392832 ^@ NM_020774.3(MIB1):c.127G>T (p.Glu43Ter) http://identifiers.org/clinvar/383413 ^@ NM_002025.3(AFF2):c.3447G>A (p.Ser1149=) http://identifiers.org/clinvar/380439 ^@ NM_001099922.2(ALG13):c.1293A>G (p.Pro431=) http://identifiers.org/clinvar/383181 ^@ NM_000202.7(IDS):c.1393C>A (p.Gln465Lys) http://identifiers.org/clinvar/384817 ^@ NM_020774.3(MIB1):c.1479+18A>G http://identifiers.org/clinvar/377971 ^@ NM_000202.7(IDS):c.667G>A (p.Val223Ile) http://identifiers.org/clinvar/388563 ^@ NM_001099922.2(ALG13):c.1313C>A (p.Thr438Lys) http://identifiers.org/clinvar/389855 ^@ NM_000252.2(MTM1):c.-24G>T http://identifiers.org/clinvar/384701 ^@ NM_020774.3(MIB1):c.1962+17A>G http://identifiers.org/clinvar/390252 ^@ NM_005257.5(GATA6):c.1428+5G>A http://identifiers.org/clinvar/384353 ^@ NM_000252.2(MTM1):c.528+6A>G http://identifiers.org/clinvar/378929 ^@ NM_014646.2(LPIN2):c.2427T>C (p.Phe809=) http://identifiers.org/clinvar/389793 ^@ NM_014646.2(LPIN2):c.2327+14A>G http://identifiers.org/clinvar/392372 ^@ NM_014646.2(LPIN2):c.1281C>T (p.Pro427=) http://identifiers.org/clinvar/380440 ^@ NM_001099922.2(ALG13):c.1435+5A>T http://identifiers.org/clinvar/385140 ^@ NM_000252.2(MTM1):c.582C>T (p.Leu194=) http://identifiers.org/clinvar/390052 ^@ NM_002641.3(PIGA):c.113T>C (p.Val38Ala) http://identifiers.org/clinvar/387963 ^@ NM_001099922.2(ALG13):c.1591T>C (p.Leu531=) http://identifiers.org/clinvar/387670 ^@ NM_001099922.2(ALG13):c.1843C>T (p.Leu615=) http://identifiers.org/clinvar/387115 ^@ NM_001001344.2(ATP2B3):c.193A>G (p.Thr65Ala) http://identifiers.org/clinvar/383528 ^@ NM_024422.4(DSC2):c.2509-16T>C http://identifiers.org/clinvar/390919 ^@ NM_001099922.2(ALG13):c.2082T>C (p.Tyr694=) http://identifiers.org/clinvar/379800 ^@ NM_001099922.2(ALG13):c.2266A>G (p.Thr756Ala) http://identifiers.org/clinvar/384630 ^@ NM_001099922.2(ALG13):c.2309G>A (p.Gly770Glu) http://identifiers.org/clinvar/383513 ^@ NM_001099922.2(ALG13):c.3039A>G (p.Val1013=) http://identifiers.org/clinvar/383390 ^@ NM_001001344.2(ATP2B3):c.2315C>T (p.Thr772Ile) http://identifiers.org/clinvar/383411 ^@ NM_001099922.2(ALG13):c.3143C>G (p.Ala1048Gly) http://identifiers.org/clinvar/382242 ^@ NM_024422.4(DSC2):c.2259G>A (p.Ala753=) http://identifiers.org/clinvar/381907 ^@ NM_024422.4(DSC2):c.489G>A (p.Thr163=) http://identifiers.org/clinvar/386815 ^@ NM_001001344.2(ATP2B3):c.3342+4563T>C http://identifiers.org/clinvar/388617 ^@ NM_001943.4(DSG2):c.46-11T>C http://identifiers.org/clinvar/385148 ^@ NM_000686.4(AGTR2):c.559A>G (p.Ile187Val) http://identifiers.org/clinvar/378240 ^@ NM_004541.3(NDUFA1):c.-33A>C http://identifiers.org/clinvar/381491 ^@ NM_001943.4(DSG2):c.216+20A>C http://identifiers.org/clinvar/383655 ^@ NM_002294.2(LAMP2):c.150C>T (p.Phe50=) http://identifiers.org/clinvar/391597 ^@ NM_001943.4(DSG2):c.379-3C>T http://identifiers.org/clinvar/389999 ^@ NM_005629.3(SLC6A8):c.282C>T (p.Tyr94=) http://identifiers.org/clinvar/383236 ^@ NM_005629.3(SLC6A8):c.471T>C (p.Tyr157=) http://identifiers.org/clinvar/386740 ^@ NM_005629.3(SLC6A8):c.644+8C>T http://identifiers.org/clinvar/379135 ^@ NM_001943.4(DSG2):c.829-4G>A http://identifiers.org/clinvar/387363 ^@ NM_005629.3(SLC6A8):c.645-6C>T http://identifiers.org/clinvar/385820 ^@ NM_001943.4(DSG2):c.1110T>C (p.Pro370=) http://identifiers.org/clinvar/380584 ^@ NM_005629.3(SLC6A8):c.777+4C>T http://identifiers.org/clinvar/379398 ^@ NM_005629.3(SLC6A8):c.1016+9C>T http://identifiers.org/clinvar/390433 ^@ NM_001943.4(DSG2):c.1266A>G (p.Leu422=) http://identifiers.org/clinvar/387085 ^@ NM_003588.3(CUL4B):c.726+3A>G http://identifiers.org/clinvar/378627 ^@ NM_003069.4(SMARCA1):c.2116C>T (p.Arg706Cys) http://identifiers.org/clinvar/393270 ^@ NM_000276.3(OCRL):c.926C>T (p.Ala309Val) http://identifiers.org/clinvar/381750 ^@ NM_001943.4(DSG2):c.2628T>C (p.Val876=) http://identifiers.org/clinvar/384439 ^@ NM_000276.3(OCRL):c.1570C>T (p.His524Tyr) http://identifiers.org/clinvar/381457 ^@ NM_005629.3(SLC6A8):c.1141+18G>A http://identifiers.org/clinvar/392196 ^@ NM_001943.4(DSG2):c.3039C>A (p.Tyr1013Ter) http://identifiers.org/clinvar/389337 ^@ NM_005629.3(SLC6A8):c.1323C>T (p.Phe441=) http://identifiers.org/clinvar/388023 ^@ NM_021946.4(BCORL1):c.784C>T (p.Pro262Ser) http://identifiers.org/clinvar/389767 ^@ NM_021946.4(BCORL1):c.1495C>T (p.Leu499Phe) http://identifiers.org/clinvar/380603 ^@ NM_001943.4(DSG2):c.3056G>A (p.Arg1019Lys) http://identifiers.org/clinvar/389891 ^@ NM_001943.4(DSG2):c.3225G>A (p.Thr1075=) http://identifiers.org/clinvar/390173 ^@ NM_005629.3(SLC6A8):c.1495+8A>G http://identifiers.org/clinvar/383235 ^@ NM_005629.3(SLC6A8):c.1496-5C>T http://identifiers.org/clinvar/387736 ^@ NM_021946.4(BCORL1):c.2447G>A (p.Arg816Gln) http://identifiers.org/clinvar/393194 ^@ NM_030632.2(ASXL3):c.3043C>T (p.Gln1015Ter) http://identifiers.org/clinvar/379326 ^@ NM_021946.4(BCORL1):c.4129C>T (p.Arg1377Cys) http://identifiers.org/clinvar/389895 ^@ NM_001390.4(DTNA):c.537G>A (p.Thr179=) http://identifiers.org/clinvar/383599 ^@ NM_001390.4(DTNA):c.1227C>T (p.Ile409=) http://identifiers.org/clinvar/392261 ^@ NM_001390.4(DTNA):c.1244T>C (p.Met415Thr) http://identifiers.org/clinvar/379106 ^@ NM_004208.3(AIFM1):c.696+16G>A http://identifiers.org/clinvar/392270 ^@ NM_004484.3(GPC3):c.-19T>A http://identifiers.org/clinvar/386853 ^@ NM_005629.3(SLC6A8):c.1597-20C>T http://identifiers.org/clinvar/384044 ^@ NM_005629.3(SLC6A8):c.1614C>T (p.Asn538=) http://identifiers.org/clinvar/381899 ^@ NM_001390.4(DTNA):c.1464G>A (p.Gln488=) http://identifiers.org/clinvar/380491 ^@ NM_001001937.1(ATP5A1):c.564A>G (p.Pro188=) http://identifiers.org/clinvar/379401 ^@ NM_005629.3(SLC6A8):c.1719G>A (p.Pro573=) http://identifiers.org/clinvar/383694 ^@ NM_032458.2(PHF6):c.-47+8C>T http://identifiers.org/clinvar/386936 ^@ NM_000033.3(ABCD1):c.809C>T (p.Ala270Val) http://identifiers.org/clinvar/136401 ^@ NM_014391.2(ANKRD1):c.208-16C>T http://identifiers.org/clinvar/136402 ^@ NM_014391.2(ANKRD1):c.346-19T>A http://identifiers.org/clinvar/136403 ^@ NM_014391.2(ANKRD1):c.346-15T>A http://identifiers.org/clinvar/136404 ^@ NM_014391.2(ANKRD1):c.-17A>G http://identifiers.org/clinvar/136405 ^@ NM_000038.5(APC):c.1419G>A (p.Gln473=) http://identifiers.org/clinvar/136406 ^@ NM_000038.5(APC):c.1548+17T>C http://identifiers.org/clinvar/136407 ^@ NM_000038.5(APC):c.2322C>T (p.Asp774=) http://identifiers.org/clinvar/136408 ^@ NM_000038.5(APC):c.2805C>T (p.Tyr935=) http://identifiers.org/clinvar/136409 ^@ NM_000038.5(APC):c.3264G>A (p.Lys1088=) http://identifiers.org/clinvar/136410 ^@ NM_000038.5(APC):c.5250C>G (p.Val1750=) http://identifiers.org/clinvar/136411 ^@ NM_000038.5(APC):c.6921G>A (p.Ser2307=) http://identifiers.org/clinvar/136412 ^@ NM_000038.5(APC):c.-19+512G>A http://identifiers.org/clinvar/136413 ^@ NM_175073.2(APTX):c.318C>T (p.Asn106=) http://identifiers.org/clinvar/136414 ^@ NM_175073.2(APTX):c.431C>A (p.Ser144Tyr) http://identifiers.org/clinvar/136415 ^@ NM_175073.2(APTX):c.484-13G>T http://identifiers.org/clinvar/136416 ^@ NM_175073.2(APTX):c.971A>T (p.Gln324Leu) http://identifiers.org/clinvar/136417 ^@ NM_175073.2(APTX):c.-111+16G>T http://identifiers.org/clinvar/136418 ^@ NM_006420.2(ARFGEF2):c.424-16C>T http://identifiers.org/clinvar/136419 ^@ NM_000045.3(ARG1):c.270C>T (p.Asn90=) http://identifiers.org/clinvar/136420 ^@ NM_139058.2(ARX):c.543C>T (p.Pro181=) http://identifiers.org/clinvar/136421 ^@ NM_139058.2(ARX):c.1074-3T>C http://identifiers.org/clinvar/136422 ^@ NM_000048.3(ASL):c.556C>A (p.Arg186=) http://identifiers.org/clinvar/136423 ^@ NM_018136.4(ASPM):c.2419+12G>A http://identifiers.org/clinvar/136424 ^@ NM_018136.4(ASPM):c.2751C>T (p.Ala917=) http://identifiers.org/clinvar/136425 ^@ NM_018136.4(ASPM):c.644A>C (p.Glu215Ala) http://identifiers.org/clinvar/136426 ^@ NM_018136.4(ASPM):c.5206C>G (p.Gln1736Glu) http://identifiers.org/clinvar/136427 ^@ NM_018136.4(ASPM):c.7565T>G (p.Leu2522Ter) http://identifiers.org/clinvar/136428 ^@ NM_015915.4(ATL1):c.630+7G>A http://identifiers.org/clinvar/136429 ^@ NM_000051.3(ATM):c.7044G>A (p.Thr2348=) http://identifiers.org/clinvar/136430 ^@ NM_000051.3(ATM):c.7515+20A>G http://identifiers.org/clinvar/136431 ^@ NM_000051.3(ATM):c.7630-17T>C http://identifiers.org/clinvar/136432 ^@ NM_000051.3(ATM):c.8269-14A>T http://identifiers.org/clinvar/136433 ^@ NM_000051.3(ATM):c.8671+9T>G http://identifiers.org/clinvar/136434 ^@ NM_000051.3(ATM):c.1380G>C (p.Thr460=) http://identifiers.org/clinvar/136435 ^@ NM_000051.3(ATM):c.1773T>C (p.Asn591=) http://identifiers.org/clinvar/136436 ^@ NM_000051.3(ATM):c.2040C>T (p.Phe680=) http://identifiers.org/clinvar/136437 ^@ NM_000051.3(ATM):c.2466+7A>G http://identifiers.org/clinvar/136438 ^@ NM_000051.3(ATM):c.2922-21T>G http://identifiers.org/clinvar/136439 ^@ NM_000051.3(ATM):c.3153+20T>C http://identifiers.org/clinvar/136440 ^@ NM_000051.3(ATM):c.3402+17T>C http://identifiers.org/clinvar/136441 ^@ NM_000051.3(ATM):c.3403-15T>A http://identifiers.org/clinvar/136442 ^@ NM_000051.3(ATM):c.3517T>C (p.Leu1173=) http://identifiers.org/clinvar/136443 ^@ NM_000051.3(ATM):c.3577-13T>C http://identifiers.org/clinvar/136444 ^@ NM_000051.3(ATM):c.3993+5G>T http://identifiers.org/clinvar/136445 ^@ NM_000051.3(ATM):c.4167A>G (p.Thr1389=) http://identifiers.org/clinvar/136446 ^@ NM_000051.3(ATM):c.5497-15G>C http://identifiers.org/clinvar/136447 ^@ NM_000702.3(ATP1A2):c.1125G>A (p.Lys375=) http://identifiers.org/clinvar/136448 ^@ NM_000702.3(ATP1A2):c.1128G>A (p.Thr376=) http://identifiers.org/clinvar/136449 ^@ NM_000702.3(ATP1A2):c.1652-18C>A http://identifiers.org/clinvar/136450 ^@ NM_000702.3(ATP1A2):c.1652-7C>A http://identifiers.org/clinvar/136451 ^@ NM_000702.3(ATP1A2):c.1652-7C>G http://identifiers.org/clinvar/136452 ^@ NM_000702.3(ATP1A2):c.2115+14C>T http://identifiers.org/clinvar/136453 ^@ NM_000702.3(ATP1A2):c.2284+18G>T http://identifiers.org/clinvar/136454 ^@ NM_000702.3(ATP1A2):c.2514G>A (p.Thr838=) http://identifiers.org/clinvar/136455 ^@ NM_000702.3(ATP1A2):c.2709+11C>T http://identifiers.org/clinvar/136456 ^@ NM_000702.3(ATP1A2):c.2937G>T (p.Pro979=) http://identifiers.org/clinvar/136457 ^@ NM_000702.3(ATP1A2):c.2943-15C>T http://identifiers.org/clinvar/136458 ^@ NM_000702.3(ATP1A2):c.-48C>G http://identifiers.org/clinvar/136459 ^@ NM_006886.3(ATP5E):c.-46C>T http://identifiers.org/clinvar/136460 ^@ NM_006886.3(ATP5E):c.-25C>T http://identifiers.org/clinvar/136461 ^@ NM_006886.3(ATP5E):c.-7C>G http://identifiers.org/clinvar/136462 ^@ NM_006886.3(ATP5E):c.32+15C>T http://identifiers.org/clinvar/136463 ^@ NM_005765.2(ATP6AP2):c.189C>T (p.Leu63=) http://identifiers.org/clinvar/136464 ^@ NM_005765.2(ATP6AP2):c.-35G>C http://identifiers.org/clinvar/136465 ^@ NM_005765.2(ATP6AP2):c.38-5T>C http://identifiers.org/clinvar/136466 ^@ NM_145691.3(ATPAF2):c.346T>C (p.Leu116=) http://identifiers.org/clinvar/136467 ^@ NM_145691.3(ATPAF2):c.511G>A (p.Val171Met) http://identifiers.org/clinvar/136468 ^@ NM_145691.3(ATPAF2):c.738G>A (p.Gln246=) http://identifiers.org/clinvar/136469 ^@ NM_145691.3(ATPAF2):c.35G>A (p.Gly12Glu) http://identifiers.org/clinvar/136470 ^@ NM_001184.3(ATR):c.7274G>A (p.Arg2425Gln) http://identifiers.org/clinvar/136471 ^@ NM_001184.3(ATR):c.5460T>C (p.Tyr1820=) http://identifiers.org/clinvar/136472 ^@ NM_001698.2(AUH):c.678C>T (p.Arg226=) http://identifiers.org/clinvar/136473 ^@ NM_001698.2(AUH):c.927A>G (p.Glu309=) http://identifiers.org/clinvar/136474 ^@ NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) http://identifiers.org/clinvar/136475 ^@ NM_004655.3(AXIN2):c.1059+8C>T http://identifiers.org/clinvar/136476 ^@ NM_004655.3(AXIN2):c.1101C>T (p.Pro367=) http://identifiers.org/clinvar/136477 ^@ NM_004655.3(AXIN2):c.1235A>G (p.Asn412Ser) http://identifiers.org/clinvar/136478 ^@ NM_004655.3(AXIN2):c.1250C>T (p.Ala417Val) http://identifiers.org/clinvar/136479 ^@ NM_004655.3(AXIN2):c.1305G>A (p.Pro435=) http://identifiers.org/clinvar/136480 ^@ NM_004655.3(AXIN2):c.1410C>T (p.His470=) http://identifiers.org/clinvar/136481 ^@ NM_004655.3(AXIN2):c.1530G>A (p.Thr510=) http://identifiers.org/clinvar/136482 ^@ NM_004655.3(AXIN2):c.1545C>T (p.His515=) http://identifiers.org/clinvar/136483 ^@ NM_004655.3(AXIN2):c.1573C>G (p.Pro525Ala) http://identifiers.org/clinvar/136484 ^@ NM_004655.3(AXIN2):c.1615G>A (p.Val539Met) http://identifiers.org/clinvar/136485 ^@ NM_004655.3(AXIN2):c.1713-18G>A http://identifiers.org/clinvar/136486 ^@ NM_004655.3(AXIN2):c.1807G>C (p.Ala603Pro) http://identifiers.org/clinvar/136487 ^@ NM_004655.3(AXIN2):c.2052G>A (p.Ala684=) http://identifiers.org/clinvar/136488 ^@ NM_004655.3(AXIN2):c.2109G>A (p.Arg703=) http://identifiers.org/clinvar/136489 ^@ NM_004655.3(AXIN2):c.2282C>A (p.Ala761Asp) http://identifiers.org/clinvar/136490 ^@ NM_004655.3(AXIN2):c.270C>T (p.Asp90=) http://identifiers.org/clinvar/136491 ^@ NM_004281.3(BAG3):c.181-9T>A http://identifiers.org/clinvar/136492 ^@ NM_004281.3(BAG3):c.507+18T>C http://identifiers.org/clinvar/136493 ^@ NM_004281.3(BAG3):c.549C>G (p.Ser183=) http://identifiers.org/clinvar/136494 ^@ NM_004281.3(BAG3):c.-17G>A http://identifiers.org/clinvar/136495 ^@ NM_004281.3(BAG3):c.25A>G (p.Met9Val) http://identifiers.org/clinvar/136496 ^@ NM_000465.3(BARD1):c.609A>C (p.Gly203=) http://identifiers.org/clinvar/136497 ^@ NM_000465.3(BARD1):c.722C>G (p.Ser241Cys) http://identifiers.org/clinvar/136498 ^@ NM_000465.3(BARD1):c.738A>G (p.Pro246=) http://identifiers.org/clinvar/136499 ^@ NM_000465.3(BARD1):c.1738G>A (p.Glu580Lys) http://identifiers.org/clinvar/136500 ^@ NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys) http://identifiers.org/clinvar/136501 ^@ NM_000465.3(BARD1):c.2212A>G (p.Ile738Val) http://identifiers.org/clinvar/136502 ^@ NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn) http://identifiers.org/clinvar/136503 ^@ NM_004328.4(BCS1L):c.996C>T (p.Asn332=) http://identifiers.org/clinvar/136504 ^@ NM_004328.4(BCS1L):c.1007+16G>A http://identifiers.org/clinvar/136505 ^@ NM_004328.4(BCS1L):c.1017T>C (p.Pro339=) http://identifiers.org/clinvar/136506 ^@ NM_004328.4(BCS1L):c.-259+13A>G http://identifiers.org/clinvar/136507 ^@ NM_000057.3(BLM):c.174T>C (p.Pro58=) http://identifiers.org/clinvar/136508 ^@ NM_000057.3(BLM):c.465T>C (p.Asp155=) http://identifiers.org/clinvar/136509 ^@ NM_000057.3(BLM):c.615G>A (p.Lys205=) http://identifiers.org/clinvar/136510 ^@ NM_000057.3(BLM):c.1122T>C (p.His374=) http://identifiers.org/clinvar/136511 ^@ NM_000057.3(BLM):c.1722A>G (p.Leu574=) http://identifiers.org/clinvar/136512 ^@ NM_000057.3(BLM):c.2075-14T>C http://identifiers.org/clinvar/136513 ^@ NM_000057.3(BLM):c.2160C>T (p.Ile720=) http://identifiers.org/clinvar/136514 ^@ NM_000057.3(BLM):c.2268A>G (p.Lys756=) http://identifiers.org/clinvar/136515 ^@ NM_000057.3(BLM):c.-5+16G>C http://identifiers.org/clinvar/136516 ^@ NM_000057.3(BLM):c.3128C>A (p.Ala1043Asp) http://identifiers.org/clinvar/136517 ^@ NM_000057.3(BLM):c.3359-13A>G http://identifiers.org/clinvar/136518 ^@ NM_000057.3(BLM):c.3798T>G (p.Val1266=) http://identifiers.org/clinvar/136519 ^@ NM_000057.3(BLM):c.3960C>T (p.Pro1320=) http://identifiers.org/clinvar/136520 ^@ NM_000057.3(BLM):c.4076+4T>G http://identifiers.org/clinvar/136521 ^@ NM_000057.3(BLM):c.4077-10C>T http://identifiers.org/clinvar/136522 ^@ NM_005448.2(BMP15):c.-9C>G http://identifiers.org/clinvar/136523 ^@ NM_005448.2(BMP15):c.308A>G (p.Asn103Ser) http://identifiers.org/clinvar/136524 ^@ NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) http://identifiers.org/clinvar/136525 ^@ NM_004329.2(BMPR1A):c.1299C>T (p.Phe433=) http://identifiers.org/clinvar/136526 ^@ NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) http://identifiers.org/clinvar/136527 ^@ NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) http://identifiers.org/clinvar/136528 ^@ NM_001204.6(BMPR2):c.2324G>A (p.Ser775Asn) http://identifiers.org/clinvar/136529 ^@ NM_001204.6(BMPR2):c.2811G>A (p.Arg937=) http://identifiers.org/clinvar/136530 ^@ NM_212552.2(BOLA3):c.259-18T>G http://identifiers.org/clinvar/136531 ^@ NM_004333.4(BRAF):c.1141-19C>T http://identifiers.org/clinvar/136532 ^@ NM_004333.4(BRAF):c.1433-19A>G http://identifiers.org/clinvar/136533 ^@ NM_004333.4(BRAF):c.1433-5T>C http://identifiers.org/clinvar/136534 ^@ NM_004333.4(BRAF):c.1517+20T>C http://identifiers.org/clinvar/136535 ^@ NM_004333.4(BRAF):c.2128-16C>T http://identifiers.org/clinvar/136536 ^@ NM_004333.4(BRAF):c.-5A>G http://identifiers.org/clinvar/136537 ^@ NM_007294.3(BRCA1):c.21C>T (p.Arg7=) http://identifiers.org/clinvar/136538 ^@ NM_007294.3(BRCA1):c.528G>A (p.Thr176=) http://identifiers.org/clinvar/136539 ^@ NM_007294.3(BRCA1):c.671-8A>G http://identifiers.org/clinvar/136540 ^@ NM_007294.3(BRCA1):c.807G>A (p.Leu269=) http://identifiers.org/clinvar/136541 ^@ NM_007294.3(BRCA1):c.1392C>T (p.Thr464=) http://identifiers.org/clinvar/136542 ^@ NM_007294.3(BRCA1):c.1905T>C (p.Asn635=) http://identifiers.org/clinvar/136543 ^@ NM_007294.3(BRCA1):c.2352G>A (p.Ser784=) http://identifiers.org/clinvar/136544 ^@ NM_007294.3(BRCA1):c.3636A>G (p.Ser1212=) http://identifiers.org/clinvar/136545 ^@ NM_007294.3(BRCA1):c.3702A>G (p.Val1234=) http://identifiers.org/clinvar/136546 ^@ NM_007294.3(BRCA1):c.3804T>C (p.Asn1268=) http://identifiers.org/clinvar/136547 ^@ NM_007294.3(BRCA1):c.4113G>A (p.Gly1371=) http://identifiers.org/clinvar/136548 ^@ NM_007294.3(BRCA1):c.4358-2704C>T http://identifiers.org/clinvar/136549 ^@ NM_007294.3(BRCA1):c.4653T>C (p.Ser1551=) http://identifiers.org/clinvar/136550 ^@ NM_007294.3(BRCA1):c.4767T>G (p.Arg1589=) http://identifiers.org/clinvar/136551 ^@ NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) http://identifiers.org/clinvar/136552 ^@ NM_007294.3(BRCA1):c.5175A>G (p.Glu1725=) http://identifiers.org/clinvar/136553 ^@ NM_000059.3(BRCA2):c.67+19T>C http://identifiers.org/clinvar/136554 ^@ NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) http://identifiers.org/clinvar/136555 ^@ NM_000059.3(BRCA2):c.2208A>G (p.Ala736=) http://identifiers.org/clinvar/136556 ^@ NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) http://identifiers.org/clinvar/136557 ^@ NM_000059.3(BRCA2):c.2484T>C (p.Tyr828=) http://identifiers.org/clinvar/136558 ^@ NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) http://identifiers.org/clinvar/136559 ^@ NM_000059.3(BRCA2):c.3874C>T (p.Leu1292=) http://identifiers.org/clinvar/136560 ^@ NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) http://identifiers.org/clinvar/136561 ^@ NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) http://identifiers.org/clinvar/136562 ^@ NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) http://identifiers.org/clinvar/136563 ^@ NM_000059.3(BRCA2):c.6937+13T>G http://identifiers.org/clinvar/136564 ^@ NM_000059.3(BRCA2):c.6937+592A>G http://identifiers.org/clinvar/136565 ^@ NM_000059.3(BRCA2):c.6960G>A (p.Leu2320=) http://identifiers.org/clinvar/136566 ^@ NM_000059.3(BRCA2):c.7050C>T (p.Thr2350=) http://identifiers.org/clinvar/136567 ^@ NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) http://identifiers.org/clinvar/136568 ^@ NM_000059.3(BRCA2):c.316+12A>G http://identifiers.org/clinvar/136569 ^@ NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) http://identifiers.org/clinvar/136570 ^@ NM_000059.3(BRCA2):c.8332-6G>T http://identifiers.org/clinvar/136571 ^@ NM_000059.3(BRCA2):c.8850G>A (p.Lys2950=) http://identifiers.org/clinvar/136572 ^@ NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) http://identifiers.org/clinvar/136573 ^@ NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) http://identifiers.org/clinvar/136574 ^@ NM_032043.2(BRIP1):c.2257+19A>C http://identifiers.org/clinvar/136575 ^@ NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) http://identifiers.org/clinvar/136576 ^@ NM_032043.2(BRIP1):c.2310T>C (p.Asp770=) http://identifiers.org/clinvar/136577 ^@ NM_032043.2(BRIP1):c.380-17T>A http://identifiers.org/clinvar/136578 ^@ NM_032043.2(BRIP1):c.2576-8T>C http://identifiers.org/clinvar/136579 ^@ NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) http://identifiers.org/clinvar/136580 ^@ NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) http://identifiers.org/clinvar/136581 ^@ NM_032043.2(BRIP1):c.-30-3T>C http://identifiers.org/clinvar/136582 ^@ NM_032043.2(BRIP1):c.36G>T (p.Gly12=) http://identifiers.org/clinvar/136583 ^@ NM_032043.2(BRIP1):c.918+15T>A http://identifiers.org/clinvar/136584 ^@ NM_032043.2(BRIP1):c.1383T>C (p.Tyr461=) http://identifiers.org/clinvar/136585 ^@ NM_032043.2(BRIP1):c.-31+12G>A http://identifiers.org/clinvar/136586 ^@ NM_032043.2(BRIP1):c.1629-11T>C http://identifiers.org/clinvar/136587 ^@ NM_021830.4(TWNK):c.639C>T (p.Gly213=) http://identifiers.org/clinvar/136588 ^@ NM_021830.4(TWNK):c.1102G>A (p.Val368Ile) http://identifiers.org/clinvar/136589 ^@ NM_021830.4(TWNK):c.1593-5C>T http://identifiers.org/clinvar/136590 ^@ NM_021830.4(TWNK):c.1593-3T>C http://identifiers.org/clinvar/136591 ^@ NM_021830.4(TWNK):c.1734+16C>A http://identifiers.org/clinvar/136592 ^@ NM_021830.4(TWNK):c.1734+17G>A http://identifiers.org/clinvar/136593 ^@ NM_021830.4(TWNK):c.-605G>T http://identifiers.org/clinvar/136594 ^@ NM_021830.4(TWNK):c.1735-14C>A http://identifiers.org/clinvar/136595 ^@ NM_152269.4(C12orf65):c.243C>T (p.Cys81=) http://identifiers.org/clinvar/136596 ^@ NM_152269.4(C12orf65):c.413A>G (p.Lys138Arg) http://identifiers.org/clinvar/136597 ^@ NM_024120.4(NDUFAF5):c.486T>C (p.His162=) http://identifiers.org/clinvar/136598 ^@ NM_024120.4(NDUFAF5):c.779-17C>A http://identifiers.org/clinvar/136599 ^@ NM_024120.4(NDUFAF5):c.849G>A (p.Ala283=) http://identifiers.org/clinvar/136600 ^@ NM_024120.4(NDUFAF5):c.183G>C (p.Arg61=) http://identifiers.org/clinvar/136601 ^@ NM_024120.4(NDUFAF5):c.222+18C>T http://identifiers.org/clinvar/136602 ^@ NM_152416.3(NDUFAF6):c.581-4A>T http://identifiers.org/clinvar/136603 ^@ NM_152416.3(NDUFAF6):c.642C>T (p.Val214=) http://identifiers.org/clinvar/136604 ^@ NM_152416.3(NDUFAF6):c.663A>G (p.Pro221=) http://identifiers.org/clinvar/136605 ^@ NM_152416.3(NDUFAF6):c.838G>A (p.Val280Ile) http://identifiers.org/clinvar/136606 ^@ NM_152416.3(NDUFAF6):c.852A>C (p.Ala284=) http://identifiers.org/clinvar/136607 ^@ NM_152416.3(NDUFAF6):c.-16-15G>T http://identifiers.org/clinvar/136608 ^@ NM_152416.3(NDUFAF6):c.51C>A (p.Ile17=) http://identifiers.org/clinvar/136609 ^@ NM_152416.3(NDUFAF6):c.225C>T (p.Cys75=) http://identifiers.org/clinvar/136610 ^@ NM_000719.6(CACNA1C):c.478-19T>G http://identifiers.org/clinvar/136611 ^@ NM_000719.6(CACNA1C):c.618G>A (p.Gly206=) http://identifiers.org/clinvar/136612 ^@ NM_000719.6(CACNA1C):c.846C>T (p.Tyr282=) http://identifiers.org/clinvar/136613 ^@ NM_000719.6(CACNA1C):c.966C>T (p.His322=) http://identifiers.org/clinvar/136614 ^@ NM_000719.6(CACNA1C):c.1114-292C>T http://identifiers.org/clinvar/136615 ^@ NM_000719.6(CACNA1C):c.1794C>T (p.Gly598=) http://identifiers.org/clinvar/136616 ^@ NM_000719.6(CACNA1C):c.2339+20C>A http://identifiers.org/clinvar/136617 ^@ NM_000719.6(CACNA1C):c.2530+9C>T http://identifiers.org/clinvar/136618 ^@ NM_000719.6(CACNA1C):c.2637G>A (p.Ala879=) http://identifiers.org/clinvar/136619 ^@ NM_000719.6(CACNA1C):c.2712C>T (p.Asn904=) http://identifiers.org/clinvar/136620 ^@ NM_000719.6(CACNA1C):c.2793+10G>A http://identifiers.org/clinvar/136621 ^@ NM_000719.6(CACNA1C):c.3209+12T>C http://identifiers.org/clinvar/136622 ^@ NM_000719.6(CACNA1C):c.3933C>T (p.Cys1311=) http://identifiers.org/clinvar/136623 ^@ NM_000719.6(CACNA1C):c.4038C>T (p.Ile1346=) http://identifiers.org/clinvar/136624 ^@ NM_000719.6(CACNA1C):c.4074+14A>G http://identifiers.org/clinvar/136625 ^@ NM_000719.6(CACNA1C):c.4170C>T (p.Thr1390=) http://identifiers.org/clinvar/136626 ^@ NM_000719.6(CACNA1C):c.4527-20T>C http://identifiers.org/clinvar/136627 ^@ NM_000719.6(CACNA1C):c.4624-9C>T http://identifiers.org/clinvar/136628 ^@ NM_000719.6(CACNA1C):c.4659C>T (p.Asp1553=) http://identifiers.org/clinvar/136629 ^@ NM_000719.6(CACNA1C):c.4829-7G>A http://identifiers.org/clinvar/136630 ^@ NM_000719.6(CACNA1C):c.5064C>T (p.Ser1688=) http://identifiers.org/clinvar/136631 ^@ NM_000719.6(CACNA1C):c.5091+18G>A http://identifiers.org/clinvar/136632 ^@ NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) http://identifiers.org/clinvar/136633 ^@ NM_000719.6(CACNA1C):c.5292C>T (p.Asn1764=) http://identifiers.org/clinvar/136634 ^@ NM_000719.6(CACNA1C):c.5331C>T (p.Arg1777=) http://identifiers.org/clinvar/136635 ^@ NM_000719.6(CACNA1C):c.5360C>T (p.Thr1787Met) http://identifiers.org/clinvar/136636 ^@ NM_000719.6(CACNA1C):c.5424G>A (p.Ala1808=) http://identifiers.org/clinvar/136637 ^@ NM_000719.6(CACNA1C):c.371+17G>A http://identifiers.org/clinvar/136638 ^@ NM_000719.6(CACNA1C):c.5445-586C>T http://identifiers.org/clinvar/136639 ^@ NM_000719.6(CACNA1C):c.5445-584A>G http://identifiers.org/clinvar/136640 ^@ NM_000719.6(CACNA1C):c.5445-511A>G http://identifiers.org/clinvar/136641 ^@ NM_000719.6(CACNA1C):c.5529T>C (p.His1843=) http://identifiers.org/clinvar/136642 ^@ NM_000719.6(CACNA1C):c.375A>G (p.Pro125=) http://identifiers.org/clinvar/136643 ^@ NM_000719.6(CACNA1C):c.426G>A (p.Ala142=) http://identifiers.org/clinvar/136644 ^@ NM_201590.2(CACNB2):c.-190048T>G http://identifiers.org/clinvar/136645 ^@ NM_201590.2(CACNB2):c.-79602T>G http://identifiers.org/clinvar/136646 ^@ NM_201590.2(CACNB2):c.1356C>T (p.Arg452=) http://identifiers.org/clinvar/136647 ^@ NM_201590.2(CACNB2):c.1398T>C (p.Pro466=) http://identifiers.org/clinvar/136648 ^@ NM_201590.2(CACNB2):c.1623C>T (p.His541=) http://identifiers.org/clinvar/136649 ^@ NM_201590.2(CACNB2):c.1803T>G (p.Asp601Glu) http://identifiers.org/clinvar/136650 ^@ NM_000726.4(CACNB4):c.324C>T (p.Asp108=) http://identifiers.org/clinvar/136651 ^@ NM_000726.4(CACNB4):c.599-15G>A http://identifiers.org/clinvar/136652 ^@ NM_000726.4(CACNB4):c.655A>G (p.Met219Val) http://identifiers.org/clinvar/136653 ^@ NM_000726.4(CACNB4):c.771G>A (p.Thr257=) http://identifiers.org/clinvar/136654 ^@ NM_000726.4(CACNB4):c.1116+18T>C http://identifiers.org/clinvar/136655 ^@ NM_000726.4(CACNB4):c.1413G>A (p.Arg471=) http://identifiers.org/clinvar/136656 ^@ NM_000726.4(CACNB4):c.-25G>T http://identifiers.org/clinvar/136657 ^@ NM_001232.3(CASQ2):c.861C>A (p.Ile287=) http://identifiers.org/clinvar/136658 ^@ NM_001232.3(CASQ2):c.-21G>A http://identifiers.org/clinvar/136659 ^@ NM_033337.2(CAV3):c.201C>A (p.Val67=) http://identifiers.org/clinvar/136660 ^@ NM_033337.2(CAV3):c.-15C>A http://identifiers.org/clinvar/136661 ^@ NM_033337.2(CAV3):c.30G>A (p.Glu10=) http://identifiers.org/clinvar/136662 ^@ NM_005188.3(CBL):c.1095+18T>G http://identifiers.org/clinvar/136663 ^@ NM_005188.3(CBL):c.1287C>T (p.Ile429=) http://identifiers.org/clinvar/136664 ^@ NM_005188.3(CBL):c.1564-13C>T http://identifiers.org/clinvar/136665 ^@ NM_005188.3(CBL):c.2190G>C (p.Thr730=) http://identifiers.org/clinvar/136666 ^@ NM_000071.2(CBS):c.531+11G>A http://identifiers.org/clinvar/136667 ^@ NM_000071.2(CBS):c.573G>A (p.Thr191=) http://identifiers.org/clinvar/136668 ^@ NM_000071.2(CBS):c.636C>T (p.Asn212=) http://identifiers.org/clinvar/136669 ^@ NM_000071.2(CBS):c.829-14C>T http://identifiers.org/clinvar/136670 ^@ NM_000071.2(CBS):c.829-13G>A http://identifiers.org/clinvar/136671 ^@ NM_000071.2(CBS):c.829-12C>T http://identifiers.org/clinvar/136672 ^@ NM_000071.2(CBS):c.954+8G>A http://identifiers.org/clinvar/136673 ^@ NM_000071.2(CBS):c.1039+19C>T http://identifiers.org/clinvar/136674 ^@ NM_000071.2(CBS):c.1145+7C>T http://identifiers.org/clinvar/136676 ^@ NM_000071.2(CBS):c.*18G>A http://identifiers.org/clinvar/136677 ^@ NM_000071.2(CBS):c.304A>C (p.Lys102Gln) http://identifiers.org/clinvar/136678 ^@ NM_001080522.2(CC2D2A):c.541-20T>G http://identifiers.org/clinvar/136679 ^@ NM_016579.3(CD320):c.268+19T>G http://identifiers.org/clinvar/136680 ^@ NM_016579.3(CD320):c.447G>T (p.Thr149=) http://identifiers.org/clinvar/136681 ^@ NM_016579.3(CD320):c.483C>T (p.Ser161=) http://identifiers.org/clinvar/136682 ^@ NM_016579.3(CD320):c.-2G>A http://identifiers.org/clinvar/136683 ^@ NM_016579.3(CD320):c.23A>G (p.Gln8Arg) http://identifiers.org/clinvar/136684 ^@ NM_016579.3(CD320):c.658G>A (p.Gly220Arg) http://identifiers.org/clinvar/136685 ^@ NM_016579.3(CD320):c.707-15A>T http://identifiers.org/clinvar/136686 ^@ NM_016579.3(CD320):c.837C>G (p.Thr279=) http://identifiers.org/clinvar/136687 ^@ NM_016579.3(CD320):c.142+10G>C http://identifiers.org/clinvar/136688 ^@ NM_000732.4(CD3D):c.406+18G>A http://identifiers.org/clinvar/136689 ^@ NM_000733.3(CD3E):c.104-17C>T http://identifiers.org/clinvar/136690 ^@ NM_000733.3(CD3E):c.216T>C (p.Asp72=) http://identifiers.org/clinvar/136691 ^@ NM_004360.4(CDH1):c.324A>G (p.Arg108=) http://identifiers.org/clinvar/136692 ^@ NM_004360.4(CDH1):c.48+6C>T http://identifiers.org/clinvar/136693 ^@ NM_004360.4(CDH1):c.699C>T (p.His233=) http://identifiers.org/clinvar/136694 ^@ NM_004360.4(CDH1):c.833-16C>G http://identifiers.org/clinvar/136695 ^@ NM_004360.4(CDH1):c.1272C>T (p.Val424=) http://identifiers.org/clinvar/136696 ^@ NM_004360.4(CDH1):c.1353T>C (p.Ile451=) http://identifiers.org/clinvar/136697 ^@ NM_004360.4(CDH1):c.1680G>C (p.Thr560=) http://identifiers.org/clinvar/136698 ^@ NM_004360.4(CDH1):c.1744C>T (p.Leu582=) http://identifiers.org/clinvar/136699 ^@ NM_004360.4(CDH1):c.2292C>T (p.Asp764=) http://identifiers.org/clinvar/136700 ^@ NM_022124.5(CDH23):c.2060-19C>G http://identifiers.org/clinvar/136701 ^@ NM_022124.5(CDH23):c.4207-18T>C http://identifiers.org/clinvar/136702 ^@ NM_022124.5(CDH23):c.4359+11G>A http://identifiers.org/clinvar/136703 ^@ NM_022124.5(CDH23):c.4846-19G>C http://identifiers.org/clinvar/136704 ^@ NM_000075.3(CDK4):c.354+19C>T http://identifiers.org/clinvar/136705 ^@ NM_018249.5(CDK5RAP2):c.2274T>C (p.Asp758=) http://identifiers.org/clinvar/136706 ^@ NM_018249.5(CDK5RAP2):c.4041G>A (p.Leu1347=) http://identifiers.org/clinvar/136707 ^@ NM_018249.5(CDK5RAP2):c.480A>C (p.Leu160=) http://identifiers.org/clinvar/136708 ^@ NM_018249.5(CDK5RAP2):c.1093-14G>A http://identifiers.org/clinvar/136709 ^@ NM_003159.2(CDKL5):c.145+17A>G http://identifiers.org/clinvar/136710 ^@ NM_003159.2(CDKL5):c.283-12T>C http://identifiers.org/clinvar/136711 ^@ NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) http://identifiers.org/clinvar/136712 ^@ NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) http://identifiers.org/clinvar/136713 ^@ NM_003159.2(CDKL5):c.2372A>C (p.Gln791Pro) http://identifiers.org/clinvar/136714 ^@ NM_003159.2(CDKL5):c.2409G>A (p.Thr803=) http://identifiers.org/clinvar/136715 ^@ NM_003159.2(CDKL5):c.2797+19A>G http://identifiers.org/clinvar/136716 ^@ NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) http://identifiers.org/clinvar/136717 ^@ NM_000077.4(CDKN2A):c.-19436C>T http://identifiers.org/clinvar/136718 ^@ NM_018451.4(CENPJ):c.1560A>T (p.Thr520=) http://identifiers.org/clinvar/136719 ^@ NM_014985.3(CEP152):c.161C>T (p.Ser54Leu) http://identifiers.org/clinvar/136720 ^@ NM_014985.3(CEP152):c.691+9C>T http://identifiers.org/clinvar/136721 ^@ NM_014985.3(CEP152):c.2019-13G>A http://identifiers.org/clinvar/136722 ^@ NM_014985.3(CEP152):c.2378G>T (p.Ser793Ile) http://identifiers.org/clinvar/136723 ^@ NM_014985.3(CEP152):c.2740C>G (p.Leu914Val) http://identifiers.org/clinvar/136724 ^@ NM_014985.3(CEP152):c.-26A>T http://identifiers.org/clinvar/136725 ^@ NM_014985.3(CEP152):c.-25C>A http://identifiers.org/clinvar/136726 ^@ NM_014985.3(CEP152):c.-24A>T http://identifiers.org/clinvar/136727 ^@ NM_025114.3(CEP290):c.1624-5T>C http://identifiers.org/clinvar/136728 ^@ NM_025114.3(CEP290):c.2268G>A (p.Ser756=) http://identifiers.org/clinvar/136729 ^@ NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) http://identifiers.org/clinvar/136730 ^@ NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) http://identifiers.org/clinvar/136731 ^@ NM_032545.3(CFC1):c.61A>C (p.Asn21His) http://identifiers.org/clinvar/136732 ^@ NM_032545.3(CFC1):c.63T>C (p.Asn21=) http://identifiers.org/clinvar/136733 ^@ NM_032545.3(CFC1):c.140G>A (p.Arg47Gln) http://identifiers.org/clinvar/136734 ^@ NM_032545.3(CFC1):c.225C>A (p.Pro75=) http://identifiers.org/clinvar/136735 ^@ NM_032545.3(CFC1):c.433G>A (p.Ala145Thr) http://identifiers.org/clinvar/136736 ^@ NM_032545.3(CFC1):c.588C>A (p.Pro196=) http://identifiers.org/clinvar/136737 ^@ NM_032545.3(CFC1):c.600G>T (p.Arg200=) http://identifiers.org/clinvar/136738 ^@ NM_032545.3(CFC1):c.606G>C (p.Leu202=) http://identifiers.org/clinvar/136739 ^@ NM_032545.3(CFC1):c.615C>G (p.Ser205=) http://identifiers.org/clinvar/136740 ^@ NM_007194.3(CHEK2):c.444+19T>C http://identifiers.org/clinvar/136741 ^@ NM_007194.3(CHEK2):c.528G>C (p.Gly176=) http://identifiers.org/clinvar/136742 ^@ NM_007194.3(CHEK2):c.593-14C>T http://identifiers.org/clinvar/136743 ^@ NM_007194.3(CHEK2):c.847-17T>C http://identifiers.org/clinvar/136744 ^@ NM_007194.3(CHEK2):c.1407G>A (p.Val469=) http://identifiers.org/clinvar/136745 ^@ NM_007194.3(CHEK2):c.1497G>C (p.Leu499=) http://identifiers.org/clinvar/136746 ^@ NM_007194.3(CHEK2):c.-40G>T http://identifiers.org/clinvar/136747 ^@ NM_007194.3(CHEK2):c.*18C>T http://identifiers.org/clinvar/136748 ^@ NM_000742.3(CHRNA2):c.340-15C>A http://identifiers.org/clinvar/136749 ^@ NM_000742.3(CHRNA2):c.449+12T>C http://identifiers.org/clinvar/136750 ^@ NM_000742.3(CHRNA2):c.489C>T (p.Ala163=) http://identifiers.org/clinvar/136751 ^@ NM_000742.3(CHRNA2):c.930C>T (p.Phe310=) http://identifiers.org/clinvar/136752 ^@ NM_000742.3(CHRNA2):c.945T>C (p.Thr315=) http://identifiers.org/clinvar/136753 ^@ NM_000742.3(CHRNA2):c.1434C>A (p.Asp478Glu) http://identifiers.org/clinvar/136754 ^@ NM_000742.3(CHRNA2):c.-45C>A http://identifiers.org/clinvar/136755 ^@ NM_000744.6(CHRNA4):c.384-11T>G http://identifiers.org/clinvar/136756 ^@ NM_000744.6(CHRNA4):c.402G>A (p.Ala134=) http://identifiers.org/clinvar/136757 ^@ NM_000744.6(CHRNA4):c.978C>T (p.Phe326=) http://identifiers.org/clinvar/136758 ^@ NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) http://identifiers.org/clinvar/136759 ^@ NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) http://identifiers.org/clinvar/136760 ^@ NM_000744.6(CHRNA4):c.1524C>T (p.Gly508=) http://identifiers.org/clinvar/136761 ^@ NM_000744.6(CHRNA4):c.1584G>A (p.Pro528=) http://identifiers.org/clinvar/136762 ^@ NM_000744.6(CHRNA4):c.1758+11C>T http://identifiers.org/clinvar/136763 ^@ NM_000744.6(CHRNA4):c.1758+16G>A http://identifiers.org/clinvar/136764 ^@ NM_000744.6(CHRNA4):c.1759-14G>A http://identifiers.org/clinvar/136765 ^@ NM_000744.6(CHRNA4):c.77-4G>A http://identifiers.org/clinvar/136766 ^@ NM_000744.6(CHRNA4):c.383+7C>T http://identifiers.org/clinvar/136767 ^@ NM_000744.6(CHRNA4):c.9A>G (p.Leu3=) http://identifiers.org/clinvar/136768 ^@ NM_000744.6(CHRNA4):c.76+18G>T http://identifiers.org/clinvar/136769 ^@ NM_000748.2(CHRNB2):c.255+7G>C http://identifiers.org/clinvar/136770 ^@ NM_000748.2(CHRNB2):c.1233G>A (p.Ala411=) http://identifiers.org/clinvar/136771 ^@ NM_000748.2(CHRNB2):c.-49G>C http://identifiers.org/clinvar/136772 ^@ NM_000748.2(CHRNB2):c.1407C>G (p.Val469=) http://identifiers.org/clinvar/136773 ^@ NM_000748.2(CHRNB2):c.1482A>G (p.Ser494=) http://identifiers.org/clinvar/136774 ^@ NM_000748.2(CHRNB2):c.1485C>T (p.Asp495=) http://identifiers.org/clinvar/136780 ^@ NM_001042432.1(CLN3):c.831G>A (p.Val277=) http://identifiers.org/clinvar/136781 ^@ NM_001042432.1(CLN3):c.963-16C>G http://identifiers.org/clinvar/136782 ^@ NM_001042432.1(CLN3):c.975G>A (p.Leu325=) http://identifiers.org/clinvar/136783 ^@ NM_001042432.1(CLN3):c.45G>A (p.Glu15=) http://identifiers.org/clinvar/136784 ^@ NM_001042432.1(CLN3):c.1197+8T>C http://identifiers.org/clinvar/136785 ^@ NM_001042432.1(CLN3):c.1230G>A (p.Ala410=) http://identifiers.org/clinvar/136786 ^@ NM_001042432.1(CLN3):c.174C>T (p.Ala58=) http://identifiers.org/clinvar/136787 ^@ NM_001042432.1(CLN3):c.295-17C>T http://identifiers.org/clinvar/136788 ^@ NM_001042432.1(CLN3):c.318C>T (p.Leu106=) http://identifiers.org/clinvar/136789 ^@ NM_001042432.1(CLN3):c.516C>T (p.Leu172=) http://identifiers.org/clinvar/136790 ^@ NM_001042432.1(CLN3):c.771G>A (p.Glu257=) http://identifiers.org/clinvar/136791 ^@ NM_001042432.1(CLN3):c.790+16C>A http://identifiers.org/clinvar/136792 ^@ NM_006493.2(CLN5):c.852G>A (p.Val284=) http://identifiers.org/clinvar/136793 ^@ NM_006493.2(CLN5):c.144C>T (p.Ser48=) http://identifiers.org/clinvar/136794 ^@ NM_006493.2(CLN5):c.726C>A (p.Asn242Lys) http://identifiers.org/clinvar/136795 ^@ NM_017882.2(CLN6):c.84-18C>T http://identifiers.org/clinvar/136796 ^@ NM_017882.2(CLN6):c.282C>A (p.Pro94=) http://identifiers.org/clinvar/136797 ^@ NM_017882.2(CLN6):c.339G>A (p.Thr113=) http://identifiers.org/clinvar/136798 ^@ NM_017882.2(CLN6):c.487-15C>T http://identifiers.org/clinvar/136799 ^@ NM_017882.2(CLN6):c.585C>T (p.Gly195=) http://identifiers.org/clinvar/136800 ^@ NM_017882.2(CLN6):c.769A>G (p.Ser257Gly) http://identifiers.org/clinvar/136801 ^@ NM_017882.2(CLN6):c.822G>A (p.Ala274=) http://identifiers.org/clinvar/136802 ^@ NM_017882.2(CLN6):c.34G>A (p.Ala12Thr) http://identifiers.org/clinvar/136803 ^@ NM_018941.3(CLN8):c.777T>C (p.Asn259=) http://identifiers.org/clinvar/136804 ^@ NM_018941.3(CLN8):c.844C>A (p.Arg282=) http://identifiers.org/clinvar/136805 ^@ NM_018941.3(CLN8):c.-123-4T>C http://identifiers.org/clinvar/136806 ^@ NM_018941.3(CLN8):c.246G>A (p.Leu82=) http://identifiers.org/clinvar/136807 ^@ NM_018941.3(CLN8):c.290G>A (p.Arg97His) http://identifiers.org/clinvar/136808 ^@ NM_018941.3(CLN8):c.-126C>T http://identifiers.org/clinvar/136809 ^@ NM_014141.5(CNTNAP2):c.755-5C>T http://identifiers.org/clinvar/136810 ^@ NM_014141.5(CNTNAP2):c.834T>C (p.Ser278=) http://identifiers.org/clinvar/136811 ^@ NM_014141.5(CNTNAP2):c.940-17A>T http://identifiers.org/clinvar/136812 ^@ NM_014141.5(CNTNAP2):c.1137C>T (p.Asn379=) http://identifiers.org/clinvar/136813 ^@ NM_014141.5(CNTNAP2):c.1566G>A (p.Gln522=) http://identifiers.org/clinvar/136814 ^@ NM_014141.5(CNTNAP2):c.1777+13T>G http://identifiers.org/clinvar/136815 ^@ NM_014141.5(CNTNAP2):c.1897+18A>G http://identifiers.org/clinvar/136816 ^@ NM_014141.5(CNTNAP2):c.2099-15T>C http://identifiers.org/clinvar/136817 ^@ NM_014141.5(CNTNAP2):c.2190C>T (p.Cys730=) http://identifiers.org/clinvar/136818 ^@ NM_014141.5(CNTNAP2):c.2508T>C (p.Phe836=) http://identifiers.org/clinvar/136819 ^@ NM_014141.5(CNTNAP2):c.2609T>C (p.Val870Ala) http://identifiers.org/clinvar/136820 ^@ NM_014141.5(CNTNAP2):c.2895C>A (p.Gly965=) http://identifiers.org/clinvar/136821 ^@ NM_014141.5(CNTNAP2):c.3011-11C>T http://identifiers.org/clinvar/136822 ^@ NM_014141.5(CNTNAP2):c.3105C>T (p.Asn1035=) http://identifiers.org/clinvar/136823 ^@ NM_014141.5(CNTNAP2):c.3174C>G (p.Thr1058=) http://identifiers.org/clinvar/136824 ^@ NM_014141.5(CNTNAP2):c.3247+15A>G http://identifiers.org/clinvar/136825 ^@ NM_014141.5(CNTNAP2):c.3247+16C>T http://identifiers.org/clinvar/136826 ^@ NM_014141.5(CNTNAP2):c.3248-17T>A http://identifiers.org/clinvar/136827 ^@ NM_014141.5(CNTNAP2):c.3381+20T>C http://identifiers.org/clinvar/136828 ^@ NM_014141.5(CNTNAP2):c.3585G>A (p.Arg1195=) http://identifiers.org/clinvar/136829 ^@ NM_014141.5(CNTNAP2):c.3600G>A (p.Ser1200=) http://identifiers.org/clinvar/136830 ^@ NM_014141.5(CNTNAP2):c.3654G>A (p.Pro1218=) http://identifiers.org/clinvar/136831 ^@ NM_014141.5(CNTNAP2):c.3675G>A (p.Ser1225=) http://identifiers.org/clinvar/136832 ^@ NM_014141.5(CNTNAP2):c.3678C>T (p.Ser1226=) http://identifiers.org/clinvar/136833 ^@ NM_014141.5(CNTNAP2):c.3741A>C (p.Pro1247=) http://identifiers.org/clinvar/136834 ^@ NM_014141.5(CNTNAP2):c.3927C>T (p.Ala1309=) http://identifiers.org/clinvar/136835 ^@ NM_014141.5(CNTNAP2):c.*9T>C http://identifiers.org/clinvar/136836 ^@ NM_014141.5(CNTNAP2):c.402+8A>G http://identifiers.org/clinvar/136837 ^@ NM_014141.5(CNTNAP2):c.-49T>G http://identifiers.org/clinvar/136838 ^@ NM_014141.5(CNTNAP2):c.-32C>T http://identifiers.org/clinvar/136839 ^@ NM_014141.5(CNTNAP2):c.561T>C (p.Val187=) http://identifiers.org/clinvar/136840 ^@ NM_000090.3(COL3A1):c.80-16C>T http://identifiers.org/clinvar/136841 ^@ NM_000090.3(COL3A1):c.583-8C>T http://identifiers.org/clinvar/136842 ^@ NM_000090.3(COL3A1):c.1150-13T>C http://identifiers.org/clinvar/136843 ^@ NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) http://identifiers.org/clinvar/136844 ^@ NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) http://identifiers.org/clinvar/136845 ^@ NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) http://identifiers.org/clinvar/136846 ^@ NM_000090.3(COL3A1):c.1815+18A>G http://identifiers.org/clinvar/136847 ^@ NM_000090.3(COL3A1):c.1816-14G>C http://identifiers.org/clinvar/136848 ^@ NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) http://identifiers.org/clinvar/136849 ^@ NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) http://identifiers.org/clinvar/136850 ^@ NM_000090.3(COL3A1):c.1977+9C>T http://identifiers.org/clinvar/136851 ^@ NM_000090.3(COL3A1):c.1978-11C>T http://identifiers.org/clinvar/136852 ^@ NM_000090.3(COL3A1):c.2121+18C>A http://identifiers.org/clinvar/136853 ^@ NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) http://identifiers.org/clinvar/136854 ^@ NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) http://identifiers.org/clinvar/136855 ^@ NM_000090.3(COL3A1):c.3039+16T>G http://identifiers.org/clinvar/136856 ^@ NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) http://identifiers.org/clinvar/136857 ^@ NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) http://identifiers.org/clinvar/136858 ^@ NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) http://identifiers.org/clinvar/136859 ^@ NM_000093.4(COL5A1):c.1539C>T (p.Pro513=) http://identifiers.org/clinvar/136860 ^@ NM_000093.4(COL5A1):c.1566G>A (p.Leu522=) http://identifiers.org/clinvar/136861 ^@ NM_000093.4(COL5A1):c.1569+15C>T http://identifiers.org/clinvar/136862 ^@ NM_000093.4(COL5A1):c.1569+16A>G http://identifiers.org/clinvar/136863 ^@ NM_000093.4(COL5A1):c.1935+8T>G http://identifiers.org/clinvar/136864 ^@ NM_000093.4(COL5A1):c.2089-9C>T http://identifiers.org/clinvar/136865 ^@ NM_000093.4(COL5A1):c.2331+16G>A http://identifiers.org/clinvar/136866 ^@ NM_000093.4(COL5A1):c.2430+20C>T http://identifiers.org/clinvar/136867 ^@ NM_000093.4(COL5A1):c.2439C>T (p.Asp813=) http://identifiers.org/clinvar/136868 ^@ NM_000093.4(COL5A1):c.2592+16C>G http://identifiers.org/clinvar/136869 ^@ NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) http://identifiers.org/clinvar/136870 ^@ NM_000093.4(COL5A1):c.2745+15A>T http://identifiers.org/clinvar/136871 ^@ NM_000093.4(COL5A1):c.2799+4T>C http://identifiers.org/clinvar/136872 ^@ NM_000093.4(COL5A1):c.2799+11G>A http://identifiers.org/clinvar/136873 ^@ NM_000093.4(COL5A1):c.2799+13C>A http://identifiers.org/clinvar/136874 ^@ NM_000093.4(COL5A1):c.2800-18C>A http://identifiers.org/clinvar/136875 ^@ NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) http://identifiers.org/clinvar/136876 ^@ NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) http://identifiers.org/clinvar/136877 ^@ NM_000093.4(COL5A1):c.2952+11A>T http://identifiers.org/clinvar/136878 ^@ NM_000093.4(COL5A1):c.3114+12G>C http://identifiers.org/clinvar/136879 ^@ NM_000093.4(COL5A1):c.3474+7C>T http://identifiers.org/clinvar/136880 ^@ NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) http://identifiers.org/clinvar/136881 ^@ NM_000093.4(COL5A1):c.3745-18G>A http://identifiers.org/clinvar/136882 ^@ NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) http://identifiers.org/clinvar/136883 ^@ NM_000093.4(COL5A1):c.3888G>A (p.Pro1296=) http://identifiers.org/clinvar/136884 ^@ NM_000093.4(COL5A1):c.3906+10C>T http://identifiers.org/clinvar/136885 ^@ NM_000093.4(COL5A1):c.3906+20G>A http://identifiers.org/clinvar/136886 ^@ NM_000093.4(COL5A1):c.4015-19C>T http://identifiers.org/clinvar/136887 ^@ NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) http://identifiers.org/clinvar/136888 ^@ NM_000093.4(COL5A1):c.4068+7G>A http://identifiers.org/clinvar/136889 ^@ NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) http://identifiers.org/clinvar/136890 ^@ NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) http://identifiers.org/clinvar/136891 ^@ NM_000093.4(COL5A1):c.4176+9T>G http://identifiers.org/clinvar/136892 ^@ NM_000093.4(COL5A1):c.4230+5C>T http://identifiers.org/clinvar/136893 ^@ NM_000093.4(COL5A1):c.4230+6G>A http://identifiers.org/clinvar/136894 ^@ NM_000093.4(COL5A1):c.4231-12G>A http://identifiers.org/clinvar/136895 ^@ NM_000093.4(COL5A1):c.4383C>T (p.Pro1461=) http://identifiers.org/clinvar/136896 ^@ NM_000093.4(COL5A1):c.4393-17C>T http://identifiers.org/clinvar/136897 ^@ NM_000093.4(COL5A1):c.4393-9C>T http://identifiers.org/clinvar/136898 ^@ NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) http://identifiers.org/clinvar/136899 ^@ NM_000093.4(COL5A1):c.4482G>A (p.Pro1494=) http://identifiers.org/clinvar/136900 ^@ NM_000093.4(COL5A1):c.4482G>C (p.Pro1494=) http://identifiers.org/clinvar/136901 ^@ NM_000093.4(COL5A1):c.4560C>T (p.Ile1520=) http://identifiers.org/clinvar/136902 ^@ NM_000093.4(COL5A1):c.4683A>C (p.Gly1561=) http://identifiers.org/clinvar/136903 ^@ NM_000093.4(COL5A1):c.4698G>A (p.Pro1566=) http://identifiers.org/clinvar/136904 ^@ NM_000093.4(COL5A1):c.4699-6C>T http://identifiers.org/clinvar/136905 ^@ NM_000093.4(COL5A1):c.4955-16C>T http://identifiers.org/clinvar/136906 ^@ NM_000093.4(COL5A1):c.5034G>A (p.Ser1678=) http://identifiers.org/clinvar/136907 ^@ NM_000093.4(COL5A1):c.5067+20C>G http://identifiers.org/clinvar/136908 ^@ NM_000093.4(COL5A1):c.5068-7T>C http://identifiers.org/clinvar/136909 ^@ NM_000093.4(COL5A1):c.5137-12C>T http://identifiers.org/clinvar/136910 ^@ NM_000093.4(COL5A1):c.5137-11T>C http://identifiers.org/clinvar/136911 ^@ NM_000093.4(COL5A1):c.5151C>T (p.Asp1717=) http://identifiers.org/clinvar/136912 ^@ NM_000093.4(COL5A1):c.5190C>T (p.Phe1730=) http://identifiers.org/clinvar/136913 ^@ NM_000093.4(COL5A1):c.5250G>A (p.Val1750=) http://identifiers.org/clinvar/136914 ^@ NM_000093.4(COL5A1):c.5270C>T (p.Thr1757Met) http://identifiers.org/clinvar/136915 ^@ NM_000093.4(COL5A1):c.5407G>A (p.Asp1803Asn) http://identifiers.org/clinvar/136917 ^@ NM_000093.4(COL5A1):c.252C>T (p.Ser84=) http://identifiers.org/clinvar/136918 ^@ NM_000093.4(COL5A1):c.378G>T (p.Gln126His) http://identifiers.org/clinvar/136919 ^@ NM_000093.4(COL5A1):c.573C>T (p.Leu191=) http://identifiers.org/clinvar/136920 ^@ NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) http://identifiers.org/clinvar/136921 ^@ NM_000093.4(COL5A1):c.-37G>A http://identifiers.org/clinvar/136922 ^@ NM_000093.4(COL5A1):c.738C>T (p.Thr246=) http://identifiers.org/clinvar/136923 ^@ NM_000093.4(COL5A1):c.-15C>A http://identifiers.org/clinvar/136924 ^@ NM_000093.4(COL5A1):c.787-15G>A http://identifiers.org/clinvar/136925 ^@ NM_000093.4(COL5A1):c.924+14G>A http://identifiers.org/clinvar/136926 ^@ NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) http://identifiers.org/clinvar/136927 ^@ NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) http://identifiers.org/clinvar/136928 ^@ NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) http://identifiers.org/clinvar/136929 ^@ NM_000093.4(COL5A1):c.1333-8A>G http://identifiers.org/clinvar/136930 ^@ NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) http://identifiers.org/clinvar/136931 ^@ NM_000093.4(COL5A1):c.1432-5T>C http://identifiers.org/clinvar/136932 ^@ NM_000393.4(COL5A2):c.975C>T (p.Pro325=) http://identifiers.org/clinvar/136933 ^@ NM_000393.4(COL5A2):c.1006-9C>T http://identifiers.org/clinvar/136934 ^@ NM_000393.4(COL5A2):c.1035G>C (p.Gly345=) http://identifiers.org/clinvar/136935 ^@ NM_000393.4(COL5A2):c.1081A>C (p.Met361Leu) http://identifiers.org/clinvar/136936 ^@ NM_000393.4(COL5A2):c.1104+15T>C http://identifiers.org/clinvar/136937 ^@ NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) http://identifiers.org/clinvar/136938 ^@ NM_000393.4(COL5A2):c.1311A= (p.Pro437=) http://identifiers.org/clinvar/136939 ^@ NM_000393.4(COL5A2):c.1378C>T (p.Pro460Ser) http://identifiers.org/clinvar/136940 ^@ NM_000393.4(COL5A2):c.1400C>T (p.Pro467Leu) http://identifiers.org/clinvar/136941 ^@ NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) http://identifiers.org/clinvar/136942 ^@ NM_000393.4(COL5A2):c.1618-19C>G http://identifiers.org/clinvar/136943 ^@ NM_000393.4(COL5A2):c.2032-7G>A http://identifiers.org/clinvar/136944 ^@ NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) http://identifiers.org/clinvar/136945 ^@ NM_000393.4(COL5A2):c.2554-14A>G http://identifiers.org/clinvar/136946 ^@ NM_000393.4(COL5A2):c.2562C>T (p.Asp854=) http://identifiers.org/clinvar/136947 ^@ NM_000393.4(COL5A2):c.2661+20G>A http://identifiers.org/clinvar/136948 ^@ NM_000393.4(COL5A2):c.2867G>C (p.Arg956Pro) http://identifiers.org/clinvar/136949 ^@ NM_000393.4(COL5A2):c.3098C>T (p.Pro1033Leu) http://identifiers.org/clinvar/136950 ^@ NM_000393.4(COL5A2):c.3364-17C>T http://identifiers.org/clinvar/136951 ^@ NM_000393.4(COL5A2):c.3411T= (p.Gly1137=) http://identifiers.org/clinvar/136952 ^@ NM_000393.4(COL5A2):c.3689C>G (p.Thr1230Arg) http://identifiers.org/clinvar/136953 ^@ NM_000393.4(COL5A2):c.3690A>C (p.Thr1230=) http://identifiers.org/clinvar/136954 ^@ NM_000393.4(COL5A2):c.3720T>C (p.Tyr1240=) http://identifiers.org/clinvar/136955 ^@ NM_000393.4(COL5A2):c.3837T>C (p.Ile1279=) http://identifiers.org/clinvar/136956 ^@ NM_000393.4(COL5A2):c.4114-11T>C http://identifiers.org/clinvar/136957 ^@ NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) http://identifiers.org/clinvar/136958 ^@ NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) http://identifiers.org/clinvar/136959 ^@ NM_000393.4(COL5A2):c.4449C>T (p.Gly1483=) http://identifiers.org/clinvar/136960 ^@ NM_000393.4(COL5A2):c.98-12T>G http://identifiers.org/clinvar/136961 ^@ NM_000393.4(COL5A2):c.198T>C (p.Asn66=) http://identifiers.org/clinvar/136962 ^@ NM_000393.4(COL5A2):c.249C>T (p.Ala83=) http://identifiers.org/clinvar/136963 ^@ NM_000393.4(COL5A2):c.261G>A (p.Thr87=) http://identifiers.org/clinvar/136964 ^@ NM_000393.4(COL5A2):c.315C= (p.Thr105=) http://identifiers.org/clinvar/136965 ^@ NM_000393.4(COL5A2):c.322+8T>C http://identifiers.org/clinvar/136966 ^@ NM_000393.4(COL5A2):c.-50C>T http://identifiers.org/clinvar/136967 ^@ NM_000393.4(COL5A2):c.-34C>T http://identifiers.org/clinvar/136968 ^@ NM_000393.4(COL5A2):c.370-16C>T http://identifiers.org/clinvar/136969 ^@ NM_000393.4(COL5A2):c.403-16T>A http://identifiers.org/clinvar/136970 ^@ NM_000393.4(COL5A2):c.568-10G>A http://identifiers.org/clinvar/136971 ^@ NM_000393.4(COL5A2):c.852+14C>T http://identifiers.org/clinvar/136972 ^@ NM_015697.7(COQ2):c.574A>G (p.Thr192Ala) http://identifiers.org/clinvar/136973 ^@ NM_015697.7(COQ2):c.587A>G (p.Asn196Ser) http://identifiers.org/clinvar/136974 ^@ NM_015697.7(COQ2):c.912+14C>A http://identifiers.org/clinvar/136975 ^@ NM_015697.7(COQ2):c.1107C>T (p.Tyr369=) http://identifiers.org/clinvar/136976 ^@ NM_015697.7(COQ2):c.-23C>T http://identifiers.org/clinvar/136977 ^@ NM_015697.7(COQ2):c.64A>C (p.Arg22=) http://identifiers.org/clinvar/136978 ^@ NM_015697.7(COQ2):c.64A>T (p.Arg22Ter) http://identifiers.org/clinvar/136979 ^@ NM_015697.7(COQ2):c.73T>G (p.Leu25Val) http://identifiers.org/clinvar/136980 ^@ NM_015697.7(COQ2):c.339G>T (p.Val113=) http://identifiers.org/clinvar/136981 ^@ NM_182476.2(COQ6):c.163+11C>T http://identifiers.org/clinvar/136982 ^@ NM_182476.2(COQ6):c.1210+13A>G http://identifiers.org/clinvar/136983 ^@ NM_182476.2(COQ6):c.164-11C>T http://identifiers.org/clinvar/136984 ^@ NM_182476.2(COQ6):c.-254T>G http://identifiers.org/clinvar/136985 ^@ NM_182476.2(COQ6):c.-204G>T http://identifiers.org/clinvar/136986 ^@ NM_182476.2(COQ6):c.-200G>A http://identifiers.org/clinvar/136987 ^@ NM_182476.2(COQ6):c.-40G>T http://identifiers.org/clinvar/136988 ^@ NM_020312.3(COQ9):c.625C>G (p.Leu209Val) http://identifiers.org/clinvar/136989 ^@ NM_020312.3(COQ9):c.864G>C (p.Lys288Asn) http://identifiers.org/clinvar/136990 ^@ NM_020312.3(COQ9):c.921+11C>A http://identifiers.org/clinvar/136991 ^@ NM_020312.3(COQ9):c.921+13C>T http://identifiers.org/clinvar/136992 ^@ NM_020312.3(COQ9):c.74-13G>A http://identifiers.org/clinvar/136993 ^@ NM_020312.3(COQ9):c.102G>A (p.Pro34=) http://identifiers.org/clinvar/136994 ^@ NM_020312.3(COQ9):c.379-16G>C http://identifiers.org/clinvar/136995 ^@ NM_001303.3(COX10):c.699A>G (p.Pro233=) http://identifiers.org/clinvar/136996 ^@ NM_001303.3(COX10):c.738G>A (p.Pro246=) http://identifiers.org/clinvar/136997 ^@ NM_001303.3(COX10):c.773T>A (p.Leu258His) http://identifiers.org/clinvar/136998 ^@ NM_001303.3(COX10):c.928+12G>A http://identifiers.org/clinvar/136999 ^@ NM_001303.3(COX10):c.929-7C>T http://identifiers.org/clinvar/137000 ^@ NM_001303.3(COX10):c.981C>T (p.Asn327=) http://identifiers.org/clinvar/137001 ^@ NM_001303.3(COX10):c.1038G>A (p.Ser346=) http://identifiers.org/clinvar/137002 ^@ NM_001303.3(COX10):c.1096G>T (p.Val366Leu) http://identifiers.org/clinvar/137003 ^@ NM_001303.3(COX10):c.504G>A (p.Leu168=) http://identifiers.org/clinvar/137004 ^@ NM_001303.3(COX10):c.83C>T (p.Thr28Ile) http://identifiers.org/clinvar/137005 ^@ NM_001303.3(COX10):c.33C>T (p.Arg11=) http://identifiers.org/clinvar/137006 ^@ NM_001303.3(COX10):c.184A>T (p.Thr62Ser) http://identifiers.org/clinvar/137007 ^@ NM_001303.3(COX10):c.290A>G (p.Tyr97Cys) http://identifiers.org/clinvar/137008 ^@ NM_001303.3(COX10):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/137009 ^@ NM_001303.3(COX10):c.476G>A (p.Arg159Gln) http://identifiers.org/clinvar/137010 ^@ NM_001303.3(COX10):c.682C>T (p.Arg228Cys) http://identifiers.org/clinvar/137011 ^@ NM_004376.6(COX15):c.-23G>T http://identifiers.org/clinvar/137012 ^@ NM_004376.6(COX15):c.90+16G>A http://identifiers.org/clinvar/137013 ^@ NM_004376.6(COX15):c.988-8C>A http://identifiers.org/clinvar/137014 ^@ NM_004376.6(COX15):c.1102-1132T>C http://identifiers.org/clinvar/137016 ^@ NM_004376.6(COX15):c.548G>A (p.Arg183His) http://identifiers.org/clinvar/137017 ^@ NM_198076.5(COX20):c.157+13A>G http://identifiers.org/clinvar/137018 ^@ NM_198076.5(COX20):c.318C>T (p.Leu106=) http://identifiers.org/clinvar/137019 ^@ NM_198076.5(COX20):c.353A>G (p.Asn118Ser) http://identifiers.org/clinvar/137020 ^@ NM_198076.5(COX20):c.42+9G>A http://identifiers.org/clinvar/137021 ^@ NM_001863.4(COX6B1):c.228A>G (p.Gln76=) http://identifiers.org/clinvar/137022 ^@ NM_001863.4(COX6B1):c.42C>T (p.Thr14=) http://identifiers.org/clinvar/137023 ^@ NM_001875.4(CPS1):c.2193-15G>T http://identifiers.org/clinvar/137024 ^@ NM_001875.4(CPS1):c.2448C>T (p.Cys816=) http://identifiers.org/clinvar/137025 ^@ NM_001875.4(CPS1):c.2830-18A>G http://identifiers.org/clinvar/137026 ^@ NM_001875.4(CPS1):c.-78956G>A http://identifiers.org/clinvar/137027 ^@ NM_001876.3(CPT1A):c.1251C>T (p.Phe417=) http://identifiers.org/clinvar/137028 ^@ NM_000098.2(CPT2):c.302C>T (p.Ala101Val) http://identifiers.org/clinvar/137029 ^@ NM_015513.4(CRELD1):c.945G>A (p.Pro315=) http://identifiers.org/clinvar/137030 ^@ NM_015513.4(CRELD1):c.1049-393C>T http://identifiers.org/clinvar/137031 ^@ NM_015513.4(CRELD1):c.1049-376T>C http://identifiers.org/clinvar/137032 ^@ NM_015513.4(CRELD1):c.1104G>A (p.Gln368=) http://identifiers.org/clinvar/137033 ^@ NM_015513.4(CRELD1):c.37G>A (p.Val13Met) http://identifiers.org/clinvar/137034 ^@ NM_015513.4(CRELD1):c.912C>T (p.Leu304=) http://identifiers.org/clinvar/137035 ^@ NM_003476.4(CSRP3):c.162G>A (p.Ser54=) http://identifiers.org/clinvar/137036 ^@ NM_003476.4(CSRP3):c.-74A>C http://identifiers.org/clinvar/137037 ^@ NM_000100.3(CSTB):c.67-3T>C http://identifiers.org/clinvar/137038 ^@ NM_001909.4(CTSD):c.828-19A>C http://identifiers.org/clinvar/137039 ^@ NM_001909.4(CTSD):c.846G>A (p.Gly282=) http://identifiers.org/clinvar/137040 ^@ NM_001909.4(CTSD):c.912G>A (p.Pro304=) http://identifiers.org/clinvar/137041 ^@ NM_001909.4(CTSD):c.951C>T (p.Ala317=) http://identifiers.org/clinvar/137042 ^@ NM_001909.4(CTSD):c.1071+7G>A http://identifiers.org/clinvar/137043 ^@ NM_001909.4(CTSD):c.1071+12A>G http://identifiers.org/clinvar/137044 ^@ NM_001909.4(CTSD):c.1077G>A (p.Ser359=) http://identifiers.org/clinvar/137045 ^@ NM_001909.4(CTSD):c.1122C>T (p.Asp374=) http://identifiers.org/clinvar/137046 ^@ NM_001909.4(CTSD):c.*19G>A http://identifiers.org/clinvar/137047 ^@ NM_001909.4(CTSD):c.153C>T (p.Pro51=) http://identifiers.org/clinvar/137048 ^@ NM_001909.4(CTSD):c.228C>T (p.Asp76=) http://identifiers.org/clinvar/137049 ^@ NM_001909.4(CTSD):c.228+18G>T http://identifiers.org/clinvar/137050 ^@ NM_001909.4(CTSD):c.240C>T (p.Tyr80=) http://identifiers.org/clinvar/137051 ^@ NM_001909.4(CTSD):c.261G>A (p.Thr87=) http://identifiers.org/clinvar/137052 ^@ NM_001909.4(CTSD):c.270G>A (p.Gln90=) http://identifiers.org/clinvar/137053 ^@ NM_001909.4(CTSD):c.294G>A (p.Thr98=) http://identifiers.org/clinvar/137054 ^@ NM_001909.4(CTSD):c.353-17C>T http://identifiers.org/clinvar/137055 ^@ NM_001909.4(CTSD):c.353-12C>T http://identifiers.org/clinvar/137056 ^@ NM_001909.4(CTSD):c.353-11G>A http://identifiers.org/clinvar/137057 ^@ NM_001909.4(CTSD):c.432G>A (p.Ser144=) http://identifiers.org/clinvar/137058 ^@ NM_001909.4(CTSD):c.471+15G>C http://identifiers.org/clinvar/137059 ^@ NM_001909.4(CTSD):c.-24C>T http://identifiers.org/clinvar/137060 ^@ NM_001909.4(CTSD):c.639C>G (p.Pro213=) http://identifiers.org/clinvar/137061 ^@ NM_001909.4(CTSD):c.704+6C>T http://identifiers.org/clinvar/137062 ^@ NM_001909.4(CTSD):c.827+13T>C http://identifiers.org/clinvar/137063 ^@ NM_000102.3(CYP17A1):c.1139+19T>G http://identifiers.org/clinvar/137064 ^@ NM_031226.2(CYP19A1):c.790C>T (p.Arg264Cys) http://identifiers.org/clinvar/137065 ^@ NM_018122.4(DARS2):c.663+8T>C http://identifiers.org/clinvar/137066 ^@ NM_018122.4(DARS2):c.1642C>A (p.Leu548Met) http://identifiers.org/clinvar/137067 ^@ NM_018122.4(DARS2):c.1750+19T>G http://identifiers.org/clinvar/137068 ^@ NM_018122.4(DARS2):c.228-20T>C http://identifiers.org/clinvar/137069 ^@ NM_018122.4(DARS2):c.228-19C>T http://identifiers.org/clinvar/137070 ^@ NM_018122.4(DARS2):c.228-12C>G http://identifiers.org/clinvar/137071 ^@ NM_018122.4(DARS2):c.397-6T>G http://identifiers.org/clinvar/137072 ^@ NM_018122.4(DARS2):c.493-3T>C http://identifiers.org/clinvar/137073 ^@ NM_001033855.2(DCLRE1C):c.959C>G (p.Ser320Cys) http://identifiers.org/clinvar/137074 ^@ NM_001033855.2(DCLRE1C):c.1503T>C (p.Asp501=) http://identifiers.org/clinvar/137075 ^@ NM_001033855.2(DCLRE1C):c.1893C>T (p.Pro631=) http://identifiers.org/clinvar/137076 ^@ NM_001927.3(DES):c.897+16C>T http://identifiers.org/clinvar/137077 ^@ NM_001927.3(DES):c.324G>A (p.Glu108=) http://identifiers.org/clinvar/137078 ^@ NM_015404.3(WHRN):c.618+1058G>A http://identifiers.org/clinvar/137079 ^@ NM_015404.3(WHRN):c.1166+18G>A http://identifiers.org/clinvar/137080 ^@ NM_080916.2(DGUOK):c.159G>A (p.Thr53=) http://identifiers.org/clinvar/137081 ^@ NM_080916.2(DGUOK):c.423G>A (p.Glu141=) http://identifiers.org/clinvar/137082 ^@ NM_080916.2(DGUOK):c.509A>G (p.Gln170Arg) http://identifiers.org/clinvar/137083 ^@ NM_080916.2(DGUOK):c.*13A>T http://identifiers.org/clinvar/137084 ^@ NM_080916.2(DGUOK):c.-48G>A http://identifiers.org/clinvar/137085 ^@ NM_001931.4(DLAT):c.46G>A (p.Ala16Thr) http://identifiers.org/clinvar/137086 ^@ NM_001931.4(DLAT):c.55G>C (p.Glu19Gln) http://identifiers.org/clinvar/137087 ^@ NM_001931.4(DLAT):c.928G>A (p.Glu310Lys) http://identifiers.org/clinvar/137088 ^@ NM_001931.4(DLAT):c.506+11C>T http://identifiers.org/clinvar/137089 ^@ NM_001931.4(DLAT):c.570A>G (p.Gln190=) http://identifiers.org/clinvar/137090 ^@ NM_001931.4(DLAT):c.626A>G (p.Gln209Arg) http://identifiers.org/clinvar/137091 ^@ NM_001931.4(DLAT):c.693C>T (p.Thr231=) http://identifiers.org/clinvar/137092 ^@ NM_000108.4(DLD):c.249T>C (p.Val83=) http://identifiers.org/clinvar/137093 ^@ NM_000108.4(DLD):c.338-18T>A http://identifiers.org/clinvar/137094 ^@ NM_000108.4(DLD):c.439-7T>C http://identifiers.org/clinvar/137095 ^@ NM_000108.4(DLD):c.543A>T (p.Ile181=) http://identifiers.org/clinvar/137096 ^@ NM_000108.4(DLD):c.684+7G>A http://identifiers.org/clinvar/137097 ^@ NM_000108.4(DLD):c.685-14T>A http://identifiers.org/clinvar/137098 ^@ NM_000108.4(DLD):c.777A>G (p.Lys259=) http://identifiers.org/clinvar/137099 ^@ NM_000108.4(DLD):c.1236+13A>G http://identifiers.org/clinvar/137100 ^@ NM_000108.4(DLD):c.1351C>T (p.Leu451=) http://identifiers.org/clinvar/137101 ^@ NM_000108.4(DLD):c.1422A>C (p.Gly474=) http://identifiers.org/clinvar/137102 ^@ NM_000108.4(DLD):c.*18A>T http://identifiers.org/clinvar/137103 ^@ NM_000108.4(DLD):c.34G>A (p.Ala12Thr) http://identifiers.org/clinvar/137104 ^@ NM_004006.2(DMD):c.6614+3294G>A http://identifiers.org/clinvar/137105 ^@ NM_004006.2(DMD):c.7096C>A (p.Gln2366Lys) http://identifiers.org/clinvar/137106 ^@ NM_004006.2(DMD):c.8810A>G (p.Gln2937Arg) http://identifiers.org/clinvar/137107 ^@ NM_004006.2(DMD):c.9225-645T>C http://identifiers.org/clinvar/137108 ^@ NM_004006.2(DMD):c.9225-301T>C http://identifiers.org/clinvar/137109 ^@ NM_004006.2(DMD):c.38G>A (p.Arg13Lys) http://identifiers.org/clinvar/137110 ^@ NM_004006.2(DMD):c.-96261C>T http://identifiers.org/clinvar/137111 ^@ NM_004006.2(DMD):c.93+5593T>A http://identifiers.org/clinvar/137112 ^@ NM_004006.2(DMD):c.93+5601G>T http://identifiers.org/clinvar/137113 ^@ NM_004006.2(DMD):c.-72599T>C http://identifiers.org/clinvar/137114 ^@ NM_004006.2(DMD):c.-72567T>C http://identifiers.org/clinvar/137115 ^@ NM_004006.2(DMD):c.-72562A>G http://identifiers.org/clinvar/137116 ^@ NM_004006.2(DMD):c.2380+11G>A http://identifiers.org/clinvar/137117 ^@ NM_004006.2(DMD):c.2645G>A (p.Gly882Asp) http://identifiers.org/clinvar/137118 ^@ NM_001039550.1(DNAJB2):c.66-14C>T http://identifiers.org/clinvar/137119 ^@ NM_001039550.1(DNAJB2):c.230-10G>A http://identifiers.org/clinvar/137120 ^@ NM_145261.3(DNAJC19):c.69G>A (p.Leu23=) http://identifiers.org/clinvar/137121 ^@ NM_145261.3(DNAJC19):c.285A>C (p.Gly95=) http://identifiers.org/clinvar/137122 ^@ NM_145261.3(DNAJC19):c.-29G>T http://identifiers.org/clinvar/137123 ^@ NM_025219.2(DNAJC5):c.321+20C>T http://identifiers.org/clinvar/137124 ^@ NM_025219.2(DNAJC5):c.322-10C>T http://identifiers.org/clinvar/137125 ^@ NM_025219.2(DNAJC5):c.501A>G (p.Thr167=) http://identifiers.org/clinvar/137126 ^@ NM_012062.4(DNM1L):c.966C>T (p.Tyr322=) http://identifiers.org/clinvar/137127 ^@ NM_012062.4(DNM1L):c.1470A>G (p.Glu490=) http://identifiers.org/clinvar/137128 ^@ NM_012062.4(DNM1L):c.1968C>T (p.Leu656=) http://identifiers.org/clinvar/137129 ^@ NM_012062.4(DNM1L):c.-32G>T http://identifiers.org/clinvar/137130 ^@ NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) http://identifiers.org/clinvar/137131 ^@ NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) http://identifiers.org/clinvar/137132 ^@ NM_001130823.2(DNMT1):c.206G>A (p.Arg69His) http://identifiers.org/clinvar/137133 ^@ NM_001130823.2(DNMT1):c.979A>G (p.Ile327Val) http://identifiers.org/clinvar/137134 ^@ NM_001130823.2(DNMT1):c.1632C>A (p.Ile544=) http://identifiers.org/clinvar/137135 ^@ NM_203447.3(DOCK8):c.1692T>C (p.Tyr564=) http://identifiers.org/clinvar/137136 ^@ NM_203447.3(DOCK8):c.1790C>T (p.Ala597Val) http://identifiers.org/clinvar/137137 ^@ NM_203447.3(DOCK8):c.1812A>G (p.Lys604=) http://identifiers.org/clinvar/137138 ^@ NM_203447.3(DOCK8):c.2295C>T (p.Ser765=) http://identifiers.org/clinvar/137139 ^@ NM_203447.3(DOCK8):c.2340G>C (p.Leu780=) http://identifiers.org/clinvar/137140 ^@ NM_203447.3(DOCK8):c.2778+20G>A http://identifiers.org/clinvar/137141 ^@ NM_203447.3(DOCK8):c.2916C>T (p.Thr972=) http://identifiers.org/clinvar/137142 ^@ NM_203447.3(DOCK8):c.3021T>C (p.Phe1007=) http://identifiers.org/clinvar/137143 ^@ NM_203447.3(DOCK8):c.3208A>G (p.Asn1070Asp) http://identifiers.org/clinvar/137144 ^@ NM_203447.3(DOCK8):c.3230G>A (p.Ser1077Asn) http://identifiers.org/clinvar/137145 ^@ NM_203447.3(DOCK8):c.3234+8T>C http://identifiers.org/clinvar/137146 ^@ NM_203447.3(DOCK8):c.3234+16A>C http://identifiers.org/clinvar/137147 ^@ NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val) http://identifiers.org/clinvar/137148 ^@ NM_203447.3(DOCK8):c.5154C>T (p.Cys1718=) http://identifiers.org/clinvar/137149 ^@ NM_203447.3(DOCK8):c.5187A>G (p.Val1729=) http://identifiers.org/clinvar/137150 ^@ NM_203447.3(DOCK8):c.5211G>A (p.Glu1737=) http://identifiers.org/clinvar/137151 ^@ NM_203447.3(DOCK8):c.5491-7T>A http://identifiers.org/clinvar/137152 ^@ NM_203447.3(DOCK8):c.5818-14C>T http://identifiers.org/clinvar/137153 ^@ NM_203447.3(DOCK8):c.5832G>A (p.Pro1944=) http://identifiers.org/clinvar/137154 ^@ NM_203447.3(DOCK8):c.5908G>C (p.Ala1970Pro) http://identifiers.org/clinvar/137155 ^@ NM_203447.3(DOCK8):c.65C>T (p.Ala22Val) http://identifiers.org/clinvar/137156 ^@ NM_203447.3(DOCK8):c.187G>A (p.Asp63Asn) http://identifiers.org/clinvar/137157 ^@ NM_203447.3(DOCK8):c.699T>C (p.Asn233=) http://identifiers.org/clinvar/137158 ^@ NM_024422.4(DSC2):c.1719C>T (p.Asn573=) http://identifiers.org/clinvar/137159 ^@ NM_024422.4(DSC2):c.-45A>C http://identifiers.org/clinvar/137160 ^@ NM_001943.4(DSG2):c.57C>T (p.Asn19=) http://identifiers.org/clinvar/137161 ^@ NM_001943.4(DSG2):c.216+16G>A http://identifiers.org/clinvar/137162 ^@ NM_001943.4(DSG2):c.523+9C>T http://identifiers.org/clinvar/137164 ^@ NM_001943.4(DSG2):c.1491C>T (p.Pro497=) http://identifiers.org/clinvar/137165 ^@ NM_001943.4(DSG2):c.2703A>G (p.Lys901=) http://identifiers.org/clinvar/137166 ^@ NM_001943.4(DSG2):c.6G>A (p.Ala2=) http://identifiers.org/clinvar/137167 ^@ NM_004415.3(DSP):c.274-31T>C http://identifiers.org/clinvar/137168 ^@ NM_004415.3(DSP):c.1206G>A (p.Lys402=) http://identifiers.org/clinvar/137169 ^@ NM_004415.3(DSP):c.2630+18C>T http://identifiers.org/clinvar/137170 ^@ NM_004415.3(DSP):c.2986-6T>A http://identifiers.org/clinvar/137171 ^@ NM_004415.3(DSP):c.4588G>T (p.Val1530Phe) http://identifiers.org/clinvar/137172 ^@ NM_004415.3(DSP):c.7734C>T (p.Ser2578=) http://identifiers.org/clinvar/137173 ^@ NM_004415.3(DSP):c.8605A>G (p.Ile2869Val) http://identifiers.org/clinvar/137174 ^@ NM_001390.4(DTNA):c.-45571G>C http://identifiers.org/clinvar/137176 ^@ NM_001390.4(DTNA):c.1451+18T>C http://identifiers.org/clinvar/137178 ^@ NM_001198940.1(DTNA):c.1642+17T>C http://identifiers.org/clinvar/137181 ^@ NM_032975.3(DTNA):c.*2593G>A http://identifiers.org/clinvar/137182 ^@ NM_001376.4(DYNC1H1):c.3015+18C>T http://identifiers.org/clinvar/137183 ^@ NM_001083614.1(EARS2):c.606C>G (p.Val202=) http://identifiers.org/clinvar/137184 ^@ NM_001083614.1(EARS2):c.984G>A (p.Pro328=) http://identifiers.org/clinvar/137185 ^@ NM_001083614.1(EARS2):c.1068-5C>T http://identifiers.org/clinvar/137186 ^@ NM_001083614.1(EARS2):c.1369A>G (p.Ser457Gly) http://identifiers.org/clinvar/137187 ^@ NM_001083614.1(EARS2):c.1412A>C (p.Lys471Thr) http://identifiers.org/clinvar/137188 ^@ NM_001083614.1:c.+12T>G http://identifiers.org/clinvar/137189 ^@ NM_001083614.1(EARS2):c.15G>C (p.Leu5=) http://identifiers.org/clinvar/137190 ^@ NM_001083614.1(EARS2):c.16A>G (p.Arg6Gly) http://identifiers.org/clinvar/137191 ^@ NM_001083614.1(EARS2):c.264G>A (p.Ala88=) http://identifiers.org/clinvar/137192 ^@ NM_018100.3(EFHC1):c.887G>A (p.Arg296His) http://identifiers.org/clinvar/137193 ^@ NM_018100.3(EFHC1):c.64-5T>C http://identifiers.org/clinvar/137194 ^@ NM_018100.3(EFHC1):c.210A>G (p.Pro70=) http://identifiers.org/clinvar/137195 ^@ NM_018100.3(EFHC1):c.1069G>A (p.Glu357Lys) http://identifiers.org/clinvar/137196 ^@ NM_018100.3(EFHC1):c.1587G>A (p.Ala529=) http://identifiers.org/clinvar/137197 ^@ NM_018100.3(EFHC1):c.1893C>T (p.Tyr631=) http://identifiers.org/clinvar/137198 ^@ NM_001972.3(ELANE):c.126C>T (p.Pro42=) http://identifiers.org/clinvar/137199 ^@ NM_001972.3(ELANE):c.606C>A (p.Ser202=) http://identifiers.org/clinvar/137200 ^@ NM_001972.3(ELANE):c.606C>T (p.Ser202=) http://identifiers.org/clinvar/137201 ^@ NM_001972.3(ELANE):c.655G>A (p.Val219Ile) http://identifiers.org/clinvar/137202 ^@ NM_001972.3(ELANE):c.785C>T (p.Pro262Leu) http://identifiers.org/clinvar/137203 ^@ NM_001972.3(ELANE):c.-38-3C>A http://identifiers.org/clinvar/137204 ^@ NM_022726.3(ELOVL4):c.800T>C (p.Ile267Thr) http://identifiers.org/clinvar/137205 ^@ NM_022726.3(ELOVL4):c.814G>C (p.Glu272Gln) http://identifiers.org/clinvar/137206 ^@ NM_022726.3(ELOVL4):c.895A>G (p.Met299Val) http://identifiers.org/clinvar/137207 ^@ NM_000117.2(EMD):c.399+18C>T http://identifiers.org/clinvar/137208 ^@ NM_000118.3(ENG):c.207G>A (p.Leu69=) http://identifiers.org/clinvar/137209 ^@ NM_000118.3(ENG):c.1029C>T (p.Thr343=) http://identifiers.org/clinvar/137210 ^@ NM_000118.3(ENG):c.1060C>T (p.Leu354=) http://identifiers.org/clinvar/137211 ^@ NM_005442.3(EOMES):c.1866C>T (p.Pro622=) http://identifiers.org/clinvar/137212 ^@ NM_005442.3(EOMES):c.359C>G (p.Ala120Gly) http://identifiers.org/clinvar/137213 ^@ NM_002354.2(EPCAM):c.858G>A (p.Leu286=) http://identifiers.org/clinvar/137214 ^@ NM_002354.2(EPCAM):c.77-11T>A http://identifiers.org/clinvar/137215 ^@ NM_002354.2(EPCAM):c.491+19A>T http://identifiers.org/clinvar/137216 ^@ NM_002354.2(EPCAM):c.50C>A (p.Thr17Lys) http://identifiers.org/clinvar/137217 ^@ NM_005670.3(EPM2A):c.171G>T (p.Pro57=) http://identifiers.org/clinvar/137218 ^@ NM_005670.3(EPM2A):c.762G>A (p.Ala254=) http://identifiers.org/clinvar/137219 ^@ NM_005670.3(EPM2A):c.849T>C (p.Tyr283=) http://identifiers.org/clinvar/137220 ^@ NM_005670.3(EPM2A):c.903G>C (p.Pro301=) http://identifiers.org/clinvar/137221 ^@ NM_005670.3(EPM2A):c.-15C>A http://identifiers.org/clinvar/137222 ^@ NM_005670.3(EPM2A):c.24G>A (p.Val8=) http://identifiers.org/clinvar/137223 ^@ NM_005670.3(EPM2A):c.129C>G (p.Ala43=) http://identifiers.org/clinvar/137224 ^@ NM_000126.3(ETFA):c.351+17T>C http://identifiers.org/clinvar/137225 ^@ NM_000126.3(ETFA):c.734-20C>A http://identifiers.org/clinvar/137226 ^@ NM_001985.2(ETFB):c.58-212A>C http://identifiers.org/clinvar/137227 ^@ NM_001985.2(ETFB):c.58-176C>T http://identifiers.org/clinvar/137228 ^@ NM_001985.2(ETFB):c.58-142G>A http://identifiers.org/clinvar/137229 ^@ NM_001985.2(ETFB):c.58-96G>A http://identifiers.org/clinvar/137230 ^@ NM_001985.2(ETFB):c.438+20C>T http://identifiers.org/clinvar/137231 ^@ NM_001985.2(ETFB):c.-36G>C http://identifiers.org/clinvar/137232 ^@ NM_004453.3(ETFDH):c.684+13A>C http://identifiers.org/clinvar/137233 ^@ NM_004453.3(ETFDH):c.832-10T>G http://identifiers.org/clinvar/137234 ^@ NM_004453.3(ETFDH):c.1080A>G (p.Ala360=) http://identifiers.org/clinvar/137235 ^@ NM_004453.3(ETFDH):c.1533T>C (p.Asp511=) http://identifiers.org/clinvar/137236 ^@ NM_004453.3(ETFDH):c.1690+15C>T http://identifiers.org/clinvar/137237 ^@ NM_014297.4(ETHE1):c.227-9C>G http://identifiers.org/clinvar/137238 ^@ NM_014297.4(ETHE1):c.-47C>T http://identifiers.org/clinvar/137239 ^@ NM_014297.4(ETHE1):c.-45G>A http://identifiers.org/clinvar/137240 ^@ NM_014297.4(ETHE1):c.61G>T (p.Ala21Ser) http://identifiers.org/clinvar/137241 ^@ NM_198283.1(EYS):c.*741754A>G http://identifiers.org/clinvar/137247 ^@ NM_001142800.1(EYS):c.4093A>G (p.Lys1365Glu) http://identifiers.org/clinvar/137253 ^@ NM_001292009.1(EYS):c.5044G>T (p.Asp1682Tyr) http://identifiers.org/clinvar/137256 ^@ NM_001142800.1(EYS):c.5705A>T (p.Asn1902Ile) http://identifiers.org/clinvar/137257 ^@ NM_001142800.1(EYS):c.6119T>A (p.Val2040Asp) http://identifiers.org/clinvar/137259 ^@ NM_001142801.1(EYS):c.*1544162A>T http://identifiers.org/clinvar/137260 ^@ NM_198283.1(EYS):c.334G>A (p.Val112Ile) http://identifiers.org/clinvar/137261 ^@ NM_001142800.1(EYS):c.359C>T (p.Thr120Met) http://identifiers.org/clinvar/137262 ^@ NM_198283.1(EYS):c.1146T>C (p.Asn382=) http://identifiers.org/clinvar/137263 ^@ NM_001142800.1(EYS):c.1300-3C>T http://identifiers.org/clinvar/137264 ^@ NM_198283.1(EYS):c.1599+13T>C http://identifiers.org/clinvar/137265 ^@ NM_001142801.1(EYS):c.1712A>G (p.Gln571Arg) http://identifiers.org/clinvar/137266 ^@ NM_198283.1(EYS):c.*38884C>T http://identifiers.org/clinvar/137267 ^@ NM_001142801.1(EYS):c.*36329G>A http://identifiers.org/clinvar/137268 ^@ NM_001142800.1(EYS):c.1922A>T (p.Glu641Val) http://identifiers.org/clinvar/137269 ^@ NM_001142800.1(EYS):c.2024-14C>T http://identifiers.org/clinvar/137270 ^@ NM_001292009.1(EYS):c.2259+10C>T http://identifiers.org/clinvar/137272 ^@ NM_001142800.1(EYS):c.2733T>C (p.Asn911=) http://identifiers.org/clinvar/137273 ^@ NM_004456.4(EZH2):c.2110+6T>G http://identifiers.org/clinvar/137274 ^@ NM_001034850.2(RETREG1):c.603T>C (p.Cys201=) http://identifiers.org/clinvar/137275 ^@ NM_000136.2(FANCC):c.672C>T (p.Asn224=) http://identifiers.org/clinvar/137276 ^@ NM_000136.2(FANCC):c.705C>T (p.Pro235=) http://identifiers.org/clinvar/137277 ^@ NM_000136.2(FANCC):c.816C>T (p.Ile272=) http://identifiers.org/clinvar/137278 ^@ NM_000136.2(FANCC):c.840G>A (p.Ser280=) http://identifiers.org/clinvar/137279 ^@ NM_000136.2(FANCC):c.897-19C>T http://identifiers.org/clinvar/137280 ^@ NM_000136.2(FANCC):c.1073-5C>T http://identifiers.org/clinvar/137281 ^@ NM_000136.2(FANCC):c.1242G>A (p.Ser414=) http://identifiers.org/clinvar/137282 ^@ NM_000136.2(FANCC):c.1329+111C>T http://identifiers.org/clinvar/137283 ^@ NM_000136.2(FANCC):c.1329+212C>T http://identifiers.org/clinvar/137284 ^@ NM_000136.2(FANCC):c.1407G>A (p.Thr469=) http://identifiers.org/clinvar/137285 ^@ NM_000136.2(FANCC):c.1485G>A (p.Leu495=) http://identifiers.org/clinvar/137286 ^@ NM_000136.2(FANCC):c.*5C>T http://identifiers.org/clinvar/137287 ^@ NM_000136.2(FANCC):c.-29A>C http://identifiers.org/clinvar/137288 ^@ NM_006567.4(FARS2):c.102G>A (p.Ser34=) http://identifiers.org/clinvar/137289 ^@ NM_006567.4(FARS2):c.339C>T (p.Tyr113=) http://identifiers.org/clinvar/137290 ^@ NM_006567.4(FARS2):c.606G>A (p.Lys202=) http://identifiers.org/clinvar/137291 ^@ NM_006567.4(FARS2):c.737C>T (p.Thr246Met) http://identifiers.org/clinvar/137292 ^@ NM_006567.4(FARS2):c.839A>G (p.Asn280Ser) http://identifiers.org/clinvar/137293 ^@ NM_014929.3(FASTKD2):c.29G>C (p.Ser10Thr) http://identifiers.org/clinvar/137294 ^@ NM_014929.3(FASTKD2):c.*9T>C http://identifiers.org/clinvar/137295 ^@ NM_014929.3(FASTKD2):c.991-13G>A http://identifiers.org/clinvar/137296 ^@ NM_014929.3(FASTKD2):c.1254+9A>C http://identifiers.org/clinvar/137297 ^@ NM_014929.3(FASTKD2):c.-69C>T http://identifiers.org/clinvar/137298 ^@ NM_014929.3(FASTKD2):c.-51+93A>G http://identifiers.org/clinvar/137299 ^@ NM_000138.4(FBN1):c.1029G>A (p.Gly343=) http://identifiers.org/clinvar/137300 ^@ NM_000138.4(FBN1):c.-176A>T http://identifiers.org/clinvar/137301 ^@ NM_000138.4(FBN1):c.-35C>T http://identifiers.org/clinvar/137302 ^@ NM_000138.4(FBN1):c.2420-8T>C http://identifiers.org/clinvar/137303 ^@ NM_000138.4(FBN1):c.2678-15C>T http://identifiers.org/clinvar/137304 ^@ NM_000138.4(FBN1):c.3082+6A>G http://identifiers.org/clinvar/137305 ^@ NM_000138.4(FBN1):c.3464-5G>A http://identifiers.org/clinvar/137306 ^@ NM_000138.4(FBN1):c.3590-8T>C http://identifiers.org/clinvar/137307 ^@ NM_000138.4(FBN1):c.141T>G (p.Gly47=) http://identifiers.org/clinvar/137308 ^@ NM_000138.4(FBN1):c.4460-19A>G http://identifiers.org/clinvar/137309 ^@ NM_000138.4(FBN1):c.5296+14G>A http://identifiers.org/clinvar/137310 ^@ NM_000138.4(FBN1):c.6288C>T (p.Cys2096=) http://identifiers.org/clinvar/137311 ^@ NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) http://identifiers.org/clinvar/137312 ^@ NM_000138.4(FBN1):c.6997+17C>G http://identifiers.org/clinvar/137313 ^@ NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) http://identifiers.org/clinvar/137314 ^@ NM_000138.4(FBN1):c.306C>T (p.Cys102=) http://identifiers.org/clinvar/137315 ^@ NM_001999.3(FBN2):c.953-8T>G http://identifiers.org/clinvar/137316 ^@ NM_001999.3(FBN2):c.976C>T (p.Pro326Ser) http://identifiers.org/clinvar/137317 ^@ NM_001999.3(FBN2):c.1285A>G (p.Ser429Gly) http://identifiers.org/clinvar/137318 ^@ NM_001999.3(FBN2):c.1850-9C>T http://identifiers.org/clinvar/137319 ^@ NM_001999.3(FBN2):c.2427T>A (p.Ile809=) http://identifiers.org/clinvar/137320 ^@ NM_001999.3(FBN2):c.2508G>A (p.Thr836=) http://identifiers.org/clinvar/137321 ^@ NM_001999.3(FBN2):c.2555-7A>G http://identifiers.org/clinvar/137322 ^@ NM_001999.3(FBN2):c.2940C>T (p.Cys980=) http://identifiers.org/clinvar/137323 ^@ NM_001999.3(FBN2):c.3045C>T (p.Pro1015=) http://identifiers.org/clinvar/137324 ^@ NM_001999.3(FBN2):c.3166G>T (p.Ala1056Ser) http://identifiers.org/clinvar/137325 ^@ NM_001999.3(FBN2):c.3762C>T (p.Asp1254=) http://identifiers.org/clinvar/137326 ^@ NM_001999.3(FBN2):c.3848-10G>T http://identifiers.org/clinvar/137327 ^@ NM_001999.3(FBN2):c.255-18C>A http://identifiers.org/clinvar/137328 ^@ NM_001999.3(FBN2):c.255-15G>A http://identifiers.org/clinvar/137329 ^@ NM_001999.3(FBN2):c.4222+12A>G http://identifiers.org/clinvar/137330 ^@ NM_001999.3(FBN2):c.4312G>A (p.Glu1438Lys) http://identifiers.org/clinvar/137331 ^@ NM_001999.3(FBN2):c.4472-12T>A http://identifiers.org/clinvar/137332 ^@ NM_001999.3(FBN2):c.4551C>T (p.Cys1517=) http://identifiers.org/clinvar/137333 ^@ NM_001999.3(FBN2):c.4647C>T (p.Asn1549=) http://identifiers.org/clinvar/137334 ^@ NM_001999.3(FBN2):c.4718-13T>C http://identifiers.org/clinvar/137335 ^@ NM_001999.3(FBN2):c.4791C>T (p.Ile1597=) http://identifiers.org/clinvar/137336 ^@ NM_001999.3(FBN2):c.4983C>T (p.Cys1661=) http://identifiers.org/clinvar/137337 ^@ NM_001999.3(FBN2):c.5353+10C>T http://identifiers.org/clinvar/137338 ^@ NM_001999.3(FBN2):c.5353+11G>A http://identifiers.org/clinvar/137339 ^@ NM_001999.3(FBN2):c.5353+19C>T http://identifiers.org/clinvar/137340 ^@ NM_001999.3(FBN2):c.5448A>G (p.Pro1816=) http://identifiers.org/clinvar/137341 ^@ NM_001999.3(FBN2):c.5496C>T (p.Arg1832=) http://identifiers.org/clinvar/137342 ^@ NM_001999.3(FBN2):c.5674+7A>G http://identifiers.org/clinvar/137343 ^@ NM_001999.3(FBN2):c.6292+12C>A http://identifiers.org/clinvar/137344 ^@ NM_001999.3(FBN2):c.6511+5G>A http://identifiers.org/clinvar/137345 ^@ NM_001999.3(FBN2):c.6511+15A>G http://identifiers.org/clinvar/137346 ^@ NM_001999.3(FBN2):c.6840G>T (p.Pro2280=) http://identifiers.org/clinvar/137347 ^@ NM_001999.3(FBN2):c.6880+17G>A http://identifiers.org/clinvar/137348 ^@ NM_001999.3(FBN2):c.7013-7T>A http://identifiers.org/clinvar/137349 ^@ NM_001999.3(FBN2):c.7380C>T (p.Cys2460=) http://identifiers.org/clinvar/137350 ^@ NM_001999.3(FBN2):c.7650C>G (p.Thr2550=) http://identifiers.org/clinvar/137351 ^@ NM_001999.3(FBN2):c.7841-16G>T http://identifiers.org/clinvar/137352 ^@ NM_001999.3(FBN2):c.7878C>T (p.His2626=) http://identifiers.org/clinvar/137353 ^@ NM_001999.3(FBN2):c.8049G>A (p.Gly2683=) http://identifiers.org/clinvar/137354 ^@ NM_001999.3(FBN2):c.8304C>T (p.Asn2768=) http://identifiers.org/clinvar/137355 ^@ NM_001999.3(FBN2):c.8364+7A>T http://identifiers.org/clinvar/137356 ^@ NM_001999.3(FBN2):c.8469C>T (p.Pro2823=) http://identifiers.org/clinvar/137357 ^@ NM_001999.3(FBN2):c.8733C>G (p.Leu2911=) http://identifiers.org/clinvar/137358 ^@ NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) http://identifiers.org/clinvar/137359 ^@ NM_001999.3(FBN2):c.738G>A (p.Ala246=) http://identifiers.org/clinvar/137360 ^@ NM_001999.3(FBN2):c.436+16G>A http://identifiers.org/clinvar/137361 ^@ NM_001999.3(FBN2):c.-24G>C http://identifiers.org/clinvar/137362 ^@ NM_000507.3(FBP1):c.141G>C (p.Ser47=) http://identifiers.org/clinvar/137363 ^@ NM_000507.3(FBP1):c.237C>T (p.Asn79=) http://identifiers.org/clinvar/137364 ^@ NM_000507.3(FBP1):c.276G>T (p.Thr92=) http://identifiers.org/clinvar/137365 ^@ NM_000507.3(FBP1):c.697T>A (p.Phe233Ile) http://identifiers.org/clinvar/137366 ^@ NM_000507.3(FBP1):c.826-15G>A http://identifiers.org/clinvar/137367 ^@ NM_000507.3(FBP1):c.826-9G>C http://identifiers.org/clinvar/137368 ^@ NM_139241.3(FGD4):c.1305G>A (p.Arg435=) http://identifiers.org/clinvar/137369 ^@ NM_139241.3(FGD4):c.1518G>A (p.Ala506=) http://identifiers.org/clinvar/137370 ^@ NM_000143.3(FH):c.927G>A (p.Pro309=) http://identifiers.org/clinvar/137371 ^@ NM_000143.3(FH):c.1236+14C>T http://identifiers.org/clinvar/137372 ^@ NM_000143.3(FH):c.1302C>T (p.Cys434=) http://identifiers.org/clinvar/137373 ^@ NM_000143.3(FH):c.309C>T (p.Ala103=) http://identifiers.org/clinvar/137374 ^@ NM_014845.5(FIG4):c.67-7T>C http://identifiers.org/clinvar/137375 ^@ NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) http://identifiers.org/clinvar/137376 ^@ NM_014845.5(FIG4):c.27C>T (p.Ile9=) http://identifiers.org/clinvar/137377 ^@ NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) http://identifiers.org/clinvar/137378 ^@ NM_001004311.3:c.+5T>A http://identifiers.org/clinvar/137379 ^@ NM_001004311.3:c.+7A>G http://identifiers.org/clinvar/137380 ^@ NM_024301.4(FKRP):c.1177G>A (p.Val393Ile) http://identifiers.org/clinvar/137381 ^@ NM_024301.4(FKRP):c.-40+8C>G http://identifiers.org/clinvar/137382 ^@ NM_001079802.1(FKTN):c.-108A>T http://identifiers.org/clinvar/137383 ^@ NM_001079802.1(FKTN):c.-88-6T>C http://identifiers.org/clinvar/137384 ^@ NM_144997.5(FLCN):c.619-20C>T http://identifiers.org/clinvar/137385 ^@ NM_001456.3(FLNA):c.3805+15C>T http://identifiers.org/clinvar/137386 ^@ NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) http://identifiers.org/clinvar/137387 ^@ NM_016725.2(FOLR1):c.321C>T (p.Tyr107=) http://identifiers.org/clinvar/137388 ^@ NM_005249.4(FOXG1):c.201G>T (p.Pro67=) http://identifiers.org/clinvar/137389 ^@ NM_005249.4(FOXG1):c.447C>T (p.Ala149=) http://identifiers.org/clinvar/137390 ^@ NM_005249.4(FOXG1):c.489C>T (p.Gly163=) http://identifiers.org/clinvar/137391 ^@ NM_005249.4(FOXG1):c.1161G>A (p.Ser387=) http://identifiers.org/clinvar/137392 ^@ NM_005249.4(FOXG1):c.1323C>T (p.Ser441=) http://identifiers.org/clinvar/137394 ^@ NM_003923.2(FOXH1):c.363G>C (p.Arg121=) http://identifiers.org/clinvar/137395 ^@ NM_003923.2(FOXH1):c.450C>T (p.His150=) http://identifiers.org/clinvar/137396 ^@ NM_003923.2(FOXH1):c.771C>T (p.Gly257=) http://identifiers.org/clinvar/137397 ^@ NM_003923.2(FOXH1):c.1077G>A (p.Leu359=) http://identifiers.org/clinvar/137398 ^@ NM_017547.3(FOXRED1):c.417+16T>C http://identifiers.org/clinvar/137399 ^@ NM_017547.3(FOXRED1):c.433G>A (p.Val145Ile) http://identifiers.org/clinvar/137400 ^@ NM_017547.3(FOXRED1):c.9G>A (p.Arg3=) http://identifiers.org/clinvar/137401 ^@ NM_017547.3(FOXRED1):c.1020G>C (p.Pro340=) http://identifiers.org/clinvar/137402 ^@ NM_017547.3(FOXRED1):c.1139A>G (p.His380Arg) http://identifiers.org/clinvar/137403 ^@ NM_000145.3(FSHR):c.-29G>A http://identifiers.org/clinvar/137405 ^@ NM_000151.3(G6PC):c.-45G>A http://identifiers.org/clinvar/137406 ^@ NM_000806.5(GABRA1):c.-247-10T>C http://identifiers.org/clinvar/137407 ^@ NM_000806.5(GABRA1):c.-16+8C>A http://identifiers.org/clinvar/137408 ^@ NM_000806.5(GABRA1):c.255+12C>T http://identifiers.org/clinvar/137409 ^@ NM_000806.5(GABRA1):c.441G>T (p.Arg147=) http://identifiers.org/clinvar/137410 ^@ NM_000806.5(GABRA1):c.501G>A (p.Pro167=) http://identifiers.org/clinvar/137411 ^@ NM_000806.5(GABRA1):c.633T>C (p.Asp211=) http://identifiers.org/clinvar/137412 ^@ NM_000806.5(GABRA1):c.954C>T (p.Ala318=) http://identifiers.org/clinvar/137413 ^@ NM_000806.5(GABRA1):c.1086T>C (p.Ile362=) http://identifiers.org/clinvar/137414 ^@ NM_000806.5(GABRA1):c.1155C>A (p.Gly385=) http://identifiers.org/clinvar/137415 ^@ NM_000806.5(GABRA1):c.1284G>A (p.Pro428=) http://identifiers.org/clinvar/137416 ^@ NM_000806.5(GABRA1):c.1350A>G (p.Lys450=) http://identifiers.org/clinvar/137417 ^@ NM_000816.3(GABRG2):c.243T>A (p.Leu81=) http://identifiers.org/clinvar/137418 ^@ NM_000816.3(GABRG2):c.259+20G>A http://identifiers.org/clinvar/137419 ^@ NM_000816.3(GABRG2):c.327+12A>C http://identifiers.org/clinvar/137420 ^@ NM_000816.3(GABRG2):c.328-20T>G http://identifiers.org/clinvar/137421 ^@ NM_000816.3(GABRG2):c.360G>A (p.Thr120=) http://identifiers.org/clinvar/137422 ^@ NM_000816.3(GABRG2):c.631+18T>A http://identifiers.org/clinvar/137423 ^@ NM_000816.3(GABRG2):c.631+1283G>A http://identifiers.org/clinvar/137424 ^@ NM_000816.3(GABRG2):c.631+1284G>T http://identifiers.org/clinvar/137425 ^@ NM_000816.3(GABRG2):c.632-1262C>A http://identifiers.org/clinvar/137426 ^@ NM_198903.2(GABRG2):c.751+4C>T http://identifiers.org/clinvar/137427 ^@ NM_000816.3(GABRG2):c.768C>T (p.Ser256=) http://identifiers.org/clinvar/137428 ^@ NM_000816.3(GABRG2):c.769+20A>C http://identifiers.org/clinvar/137429 ^@ NM_000816.3(GABRG2):c.798T>C (p.Phe266=) http://identifiers.org/clinvar/137430 ^@ NM_000816.3(GABRG2):c.840T>C (p.Tyr280=) http://identifiers.org/clinvar/137431 ^@ NM_000816.3(GABRG2):c.922+20G>A http://identifiers.org/clinvar/137432 ^@ NM_000156.5(GAMT):c.182-18C>T http://identifiers.org/clinvar/137433 ^@ NM_000156.5(GAMT):c.225G>A (p.Ala75=) http://identifiers.org/clinvar/137434 ^@ NM_000156.5(GAMT):c.279C>T (p.Asp93=) http://identifiers.org/clinvar/137435 ^@ NM_000156.5(GAMT):c.348G>A (p.Leu116=) http://identifiers.org/clinvar/137436 ^@ NM_000156.5(GAMT):c.392-7C>T http://identifiers.org/clinvar/137437 ^@ NM_000156.5(GAMT):c.570+165G>A http://identifiers.org/clinvar/137439 ^@ NM_002047.3(GARS):c.222+5C>T http://identifiers.org/clinvar/137440 ^@ NM_002047.3(GARS):c.1062T>C (p.Phe354=) http://identifiers.org/clinvar/137441 ^@ NM_002047.3(GARS):c.1613+9T>C http://identifiers.org/clinvar/137442 ^@ NM_002047.3(GARS):c.1833T>C (p.Val611=) http://identifiers.org/clinvar/137443 ^@ NM_002047.3(GARS):c.2145A>G (p.Thr715=) http://identifiers.org/clinvar/137444 ^@ NM_002047.3(GARS):c.93G>C (p.Leu31=) http://identifiers.org/clinvar/137445 ^@ NM_021167.4(GATAD1):c.249+15C>T http://identifiers.org/clinvar/137446 ^@ NM_021167.4(GATAD1):c.249+20C>G http://identifiers.org/clinvar/137447 ^@ NM_021167.4(GATAD1):c.48G>A (p.Ser16=) http://identifiers.org/clinvar/137448 ^@ NM_021167.4(GATAD1):c.762G>A (p.Gly254=) http://identifiers.org/clinvar/137449 ^@ NM_001482.2(GATM):c.669T>C (p.Tyr223=) http://identifiers.org/clinvar/137450 ^@ NM_001482.2(GATM):c.1041C>T (p.Asp347=) http://identifiers.org/clinvar/137451 ^@ NM_001482.2(GATM):c.1239G>A (p.Arg413=) http://identifiers.org/clinvar/137452 ^@ NM_001482.2(GATM):c.-30T>G http://identifiers.org/clinvar/137453 ^@ NM_001482.2(GATM):c.48G>T (p.Ala16=) http://identifiers.org/clinvar/137454 ^@ NM_001482.2(GATM):c.69+13C>T http://identifiers.org/clinvar/137455 ^@ NM_001492.5(GDF1):c.-894A>G http://identifiers.org/clinvar/137456 ^@ NM_001492.5(GDF1):c.-422-11C>T http://identifiers.org/clinvar/137457 ^@ NM_001492.5(GDF1):c.325+20G>A http://identifiers.org/clinvar/137458 ^@ NM_001492.5(GDF1):c.-1089T>C http://identifiers.org/clinvar/137459 ^@ NM_005260.5(GDF9):c.546G>A (p.Glu182=) http://identifiers.org/clinvar/137460 ^@ NM_005262.2(GFER):c.269A>G (p.Lys90Arg) http://identifiers.org/clinvar/137461 ^@ NM_024996.5(GFM1):c.1083+6T>G http://identifiers.org/clinvar/137462 ^@ NM_024996.5(GFM1):c.127A>G (p.Asn43Asp) http://identifiers.org/clinvar/137463 ^@ NM_024996.5(GFM1):c.1601+9G>C http://identifiers.org/clinvar/137464 ^@ NM_024996.5(GFM1):c.476A>G (p.Asn159Ser) http://identifiers.org/clinvar/137465 ^@ NM_024996.5(GFM1):c.568A>C (p.Met190Leu) http://identifiers.org/clinvar/137466 ^@ NM_024996.5(GFM1):c.1990G>A (p.Val664Ile) http://identifiers.org/clinvar/137467 ^@ NM_024996.5(GFM1):c.2071-17A>G http://identifiers.org/clinvar/137468 ^@ NM_024996.5(GFM1):c.-38C>T http://identifiers.org/clinvar/137469 ^@ NM_024996.5(GFM1):c.-31A>G http://identifiers.org/clinvar/137470 ^@ NM_024996.5(GFM1):c.-11C>T http://identifiers.org/clinvar/137471 ^@ NM_032380.4(GFM2):c.459G>A (p.Glu153=) http://identifiers.org/clinvar/137472 ^@ NM_032380.4(GFM2):c.898A>T (p.Ser300Cys) http://identifiers.org/clinvar/137473 ^@ NM_032380.4(GFM2):c.915G>A (p.Leu305=) http://identifiers.org/clinvar/137474 ^@ NM_032380.4(GFM2):c.1188G>A (p.Gln396=) http://identifiers.org/clinvar/137475 ^@ NM_032380.4(GFM2):c.1221-3C>T http://identifiers.org/clinvar/137476 ^@ NM_032380.4(GFM2):c.1718G>A (p.Arg573His) http://identifiers.org/clinvar/137477 ^@ NM_032380.4(GFM2):c.1726+14C>T http://identifiers.org/clinvar/137478 ^@ NM_032380.4(GFM2):c.43A>G (p.Ile15Val) http://identifiers.org/clinvar/137479 ^@ NM_032380.4(GFM2):c.2230C>G (p.Arg744Gly) http://identifiers.org/clinvar/137480 ^@ NM_032380.4(GFM2):c.2321G>A (p.Arg774Gln) http://identifiers.org/clinvar/137481 ^@ NM_032380.4(GFM2):c.191A>G (p.Asn64Ser) http://identifiers.org/clinvar/137482 ^@ NM_000165.4(GJA1):c.717G>A (p.Arg239=) http://identifiers.org/clinvar/137483 ^@ NM_000165.4(GJA1):c.758C>T (p.Ala253Val) http://identifiers.org/clinvar/137484 ^@ NM_000168.5(GLI3):c.368-19G>A http://identifiers.org/clinvar/137485 ^@ NM_000168.5(GLI3):c.3083G>T (p.Ser1028Ile) http://identifiers.org/clinvar/137486 ^@ NM_000168.5(GLI3):c.3084C>T (p.Ser1028=) http://identifiers.org/clinvar/137487 ^@ NM_004287.4(GOSR2):c.-30G>C http://identifiers.org/clinvar/137488 ^@ NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) http://identifiers.org/clinvar/137489 ^@ NM_004287.4(GOSR2):c.29+8C>T http://identifiers.org/clinvar/137490 ^@ NM_004484.3(GPC3):c.1626A>G (p.Ala542=) http://identifiers.org/clinvar/137491 ^@ NM_015141.3(GPD1L):c.981G>A (p.Val327=) http://identifiers.org/clinvar/137492 ^@ NM_005682.6(ADGRG1):c.-137A>C http://identifiers.org/clinvar/137493 ^@ NM_005682.6(ADGRG1):c.843C>G (p.Ser281Arg) http://identifiers.org/clinvar/137494 ^@ NM_005682.6(ADGRG1):c.1286+6G>A http://identifiers.org/clinvar/137495 ^@ NM_005682.6(ADGRG1):c.1478T>C (p.Met493Thr) http://identifiers.org/clinvar/137496 ^@ NM_005682.6(ADGRG1):c.1573+15G>C http://identifiers.org/clinvar/137497 ^@ NM_032119.3(ADGRV1):c.14517+18A>G http://identifiers.org/clinvar/137498 ^@ NM_032119.3(ADGRV1):c.-44C>T http://identifiers.org/clinvar/137499 ^@ NM_032119.3(ADGRV1):c.18433-16T>C http://identifiers.org/clinvar/137500 ^@ NM_032119.3(ADGRV1):c.1849G>A (p.Val617Met) http://identifiers.org/clinvar/137501 ^@ NM_032119.3(ADGRV1):c.2112G>A (p.Pro704=) http://identifiers.org/clinvar/137502 ^@ NM_032119.3(ADGRV1):c.2241-19G>T http://identifiers.org/clinvar/137503 ^@ NM_032119.3(ADGRV1):c.4752+19G>T http://identifiers.org/clinvar/137504 ^@ NM_000833.4(GRIN2A):c.-34C>A http://identifiers.org/clinvar/137505 ^@ NM_000833.4(GRIN2A):c.900C>T (p.Thr300=) http://identifiers.org/clinvar/137506 ^@ NM_000833.4(GRIN2A):c.903C>T (p.Thr301=) http://identifiers.org/clinvar/137507 ^@ NM_000833.4(GRIN2A):c.1008-16C>G http://identifiers.org/clinvar/137508 ^@ NM_000833.4(GRIN2A):c.1251C>T (p.Val417=) http://identifiers.org/clinvar/137509 ^@ NM_000833.4(GRIN2A):c.1410T>G (p.Thr470=) http://identifiers.org/clinvar/137510 ^@ NM_000833.4(GRIN2A):c.1652-13T>C http://identifiers.org/clinvar/137511 ^@ NM_000833.4(GRIN2A):c.1777+6G>T http://identifiers.org/clinvar/137512 ^@ NM_000833.4(GRIN2A):c.1777+17G>A http://identifiers.org/clinvar/137513 ^@ NM_000833.4(GRIN2A):c.2694C>T (p.Leu898=) http://identifiers.org/clinvar/137514 ^@ NM_000834.3(GRIN2B):c.-15G>A http://identifiers.org/clinvar/137515 ^@ NM_000834.3(GRIN2B):c.228C>T (p.Thr76=) http://identifiers.org/clinvar/137516 ^@ NM_000834.3(GRIN2B):c.1125+20A>G http://identifiers.org/clinvar/137517 ^@ NM_000834.3(GRIN2B):c.1126-12A>G http://identifiers.org/clinvar/137518 ^@ NM_000834.3(GRIN2B):c.1338A>G (p.Thr446=) http://identifiers.org/clinvar/137519 ^@ NM_000834.3(GRIN2B):c.2628G>A (p.Ala876=) http://identifiers.org/clinvar/137520 ^@ NM_000834.3(GRIN2B):c.3117C>T (p.Tyr1039=) http://identifiers.org/clinvar/137521 ^@ NM_000834.3(GRIN2B):c.3807A>T (p.Pro1269=) http://identifiers.org/clinvar/137522 ^@ NM_021957.3(GYS2):c.280G>A (p.Ala94Thr) http://identifiers.org/clinvar/137523 ^@ NM_021957.3(GYS2):c.421G>A (p.Gly141Ser) http://identifiers.org/clinvar/137524 ^@ NM_021957.3(GYS2):c.1245C>G (p.Asp415Glu) http://identifiers.org/clinvar/137525 ^@ NM_021957.3(GYS2):c.1464A>G (p.Leu488=) http://identifiers.org/clinvar/137526 ^@ NM_021957.3(GYS2):c.1636A>G (p.Thr546Ala) http://identifiers.org/clinvar/137527 ^@ NM_021957.3(GYS2):c.1872A>G (p.Glu624=) http://identifiers.org/clinvar/137528 ^@ NM_021957.3(GYS2):c.1965G>C (p.Gln655His) http://identifiers.org/clinvar/137529 ^@ NM_021957.3(GYS2):c.2054T>C (p.Phe685Ser) http://identifiers.org/clinvar/137530 ^@ NM_021957.3(GYS2):c.2067C>T (p.His689=) http://identifiers.org/clinvar/137531 ^@ NM_000182.4(HADHA):c.1620+11G>C http://identifiers.org/clinvar/137532 ^@ NM_000183.2(HADHB):c.966G>A (p.Ala322=) http://identifiers.org/clinvar/137533 ^@ NM_000183.2(HADHB):c.1014-14A>G http://identifiers.org/clinvar/137534 ^@ NM_012208.3(HARS2):c.324T>C (p.Tyr108=) http://identifiers.org/clinvar/137535 ^@ NM_012208.3(HARS2):c.399+18G>A http://identifiers.org/clinvar/137536 ^@ NM_012208.3(HARS2):c.7C>G (p.Leu3Val) http://identifiers.org/clinvar/137537 ^@ NM_005477.2(HCN4):c.107G>A (p.Gly36Glu) http://identifiers.org/clinvar/137538 ^@ NM_005477.2(HCN4):c.1518C>T (p.Tyr506=) http://identifiers.org/clinvar/137539 ^@ NM_005477.2(HCN4):c.1558C>T (p.Leu520=) http://identifiers.org/clinvar/137540 ^@ NM_005477.2(HCN4):c.1591-19C>A http://identifiers.org/clinvar/137541 ^@ NM_005477.2(HCN4):c.1839C>T (p.Phe613=) http://identifiers.org/clinvar/137542 ^@ NM_005477.2(HCN4):c.2648C>G (p.Pro883Arg) http://identifiers.org/clinvar/137543 ^@ NM_005477.2(HCN4):c.3337A>G (p.Met1113Val) http://identifiers.org/clinvar/137544 ^@ NM_000411.6(HLCS):c.1519+16T>A http://identifiers.org/clinvar/137545 ^@ NM_000411.6(HLCS):c.1710C>T (p.Asn570=) http://identifiers.org/clinvar/137546 ^@ NM_000411.6(HLCS):c.1920C>T (p.Val640=) http://identifiers.org/clinvar/137547 ^@ NM_000411.6(HLCS):c.2174G>A (p.Arg725Gln) http://identifiers.org/clinvar/137548 ^@ NM_000411.6(HLCS):c.126G>T (p.Glu42Asp) http://identifiers.org/clinvar/137549 ^@ NM_000411.6(HLCS):c.285C>T (p.Pro95=) http://identifiers.org/clinvar/137550 ^@ NM_000411.6(HLCS):c.286G>A (p.Val96Ile) http://identifiers.org/clinvar/137551 ^@ NM_000411.6(HLCS):c.971G>A (p.Arg324His) http://identifiers.org/clinvar/137552 ^@ NM_000411.6(HLCS):c.-405T>C http://identifiers.org/clinvar/137553 ^@ NM_000411.6(HLCS):c.-393+11G>T http://identifiers.org/clinvar/137554 ^@ NM_000411.6(HLCS):c.-393+9391A>G http://identifiers.org/clinvar/137555 ^@ NM_001166107.1(HMGCS2):c.*6-16T>C http://identifiers.org/clinvar/137556 ^@ NM_005343.3(HRAS):c.-10C>T http://identifiers.org/clinvar/137557 ^@ NM_005343.3(HRAS):c.*1C>T http://identifiers.org/clinvar/137558 ^@ NM_176795.4(HRAS):c.*158C>A http://identifiers.org/clinvar/137559 ^@ NM_001540.3:c.+11C>T http://identifiers.org/clinvar/137560 ^@ NM_002156.4(HSPD1):c.-3+15C>T http://identifiers.org/clinvar/137561 ^@ NM_002156.4(HSPD1):c.1140C>T (p.Val380=) http://identifiers.org/clinvar/137562 ^@ NM_002156.4(HSPD1):c.1216-9C>T http://identifiers.org/clinvar/137563 ^@ NM_002156.4(HSPD1):c.1688G>C (p.Gly563Ala) http://identifiers.org/clinvar/137564 ^@ NM_002156.4(HSPD1):c.-2-20C>T http://identifiers.org/clinvar/137565 ^@ NM_002156.4(HSPD1):c.144C>T (p.Ala48=) http://identifiers.org/clinvar/137566 ^@ NM_002156.4(HSPD1):c.428-10G>A http://identifiers.org/clinvar/137567 ^@ NM_002156.4(HSPD1):c.-15C>T http://identifiers.org/clinvar/137568 ^@ NM_002180.2(IGHMBP2):c.256+9G>A http://identifiers.org/clinvar/137569 ^@ NM_003640.4(IKBKAP):c.751A>G (p.Ser251Gly) http://identifiers.org/clinvar/137570 ^@ NM_003640.4(IKBKAP):c.819C>T (p.Leu273=) http://identifiers.org/clinvar/137571 ^@ NM_003640.4(IKBKAP):c.934G>A (p.Glu312Lys) http://identifiers.org/clinvar/137572 ^@ NM_003640.4(IKBKAP):c.959-15C>T http://identifiers.org/clinvar/137573 ^@ NM_003640.4(IKBKAP):c.1230G>A (p.Pro410=) http://identifiers.org/clinvar/137574 ^@ NM_003640.4(IKBKAP):c.1574G>A (p.Arg525Gln) http://identifiers.org/clinvar/137575 ^@ NM_003640.4(IKBKAP):c.1926G>A (p.Thr642=) http://identifiers.org/clinvar/137576 ^@ NM_003640.4(IKBKAP):c.1965C>T (p.Thr655=) http://identifiers.org/clinvar/137577 ^@ NM_003640.4(IKBKAP):c.2294G>A (p.Gly765Glu) http://identifiers.org/clinvar/137578 ^@ NM_003640.4(IKBKAP):c.2446A>C (p.Ile816Leu) http://identifiers.org/clinvar/137579 ^@ NM_003640.4(IKBKAP):c.2490A>G (p.Ile830Met) http://identifiers.org/clinvar/137580 ^@ NM_003640.4(IKBKAP):c.2587+14C>T http://identifiers.org/clinvar/137581 ^@ NM_003640.4(IKBKAP):c.189C>T (p.Leu63=) http://identifiers.org/clinvar/137582 ^@ NM_003640.4(IKBKAP):c.3285+9C>T http://identifiers.org/clinvar/137583 ^@ NM_003640.4(IKBKAP):c.441G>A (p.Gln147=) http://identifiers.org/clinvar/137584 ^@ NM_003640.4(IKBKAP):c.-71G>C http://identifiers.org/clinvar/137585 ^@ NM_002185.3(IL7R):c.495C>T (p.His165=) http://identifiers.org/clinvar/137586 ^@ NM_002185.3(IL7R):c.538-14A>C http://identifiers.org/clinvar/137587 ^@ NM_002185.3(IL7R):c.561G>A (p.Lys187=) http://identifiers.org/clinvar/137588 ^@ NM_004517.3(ILK):c.297C>T (p.His99=) http://identifiers.org/clinvar/137589 ^@ NM_004517.3(ILK):c.-108T>C http://identifiers.org/clinvar/137590 ^@ NM_004517.3(ILK):c.819G>A (p.Pro273=) http://identifiers.org/clinvar/137591 ^@ NM_004517.3(ILK):c.918C>T (p.Ala306=) http://identifiers.org/clinvar/137592 ^@ NM_004517.3(ILK):c.1079-18C>T http://identifiers.org/clinvar/137593 ^@ NM_213595.3(ISCU):c.27G>T (p.Leu9=) http://identifiers.org/clinvar/137595 ^@ NM_000214.2(JAG1):c.3417T>C (p.Tyr1139=) http://identifiers.org/clinvar/137596 ^@ NM_000215.3(JAK3):c.1442-5C>T http://identifiers.org/clinvar/137597 ^@ NM_000215.3(JAK3):c.1701+9A>G http://identifiers.org/clinvar/137598 ^@ NM_000215.3(JAK3):c.2978+15C>T http://identifiers.org/clinvar/137599 ^@ NM_000215.3(JAK3):c.108G>C (p.Gly36=) http://identifiers.org/clinvar/137600 ^@ NM_000215.3(JAK3):c.297G>C (p.Leu99=) http://identifiers.org/clinvar/137601 ^@ NM_000215.3(JAK3):c.1142+13C>A http://identifiers.org/clinvar/137602 ^@ NM_020433.4(JPH2):c.156C>T (p.Tyr52=) http://identifiers.org/clinvar/137603 ^@ NM_020433.4(JPH2):c.380-9C>G http://identifiers.org/clinvar/137604 ^@ NM_020433.4(JPH2):c.380-6C>T http://identifiers.org/clinvar/137605 ^@ NM_020433.4(JPH2):c.642G>A (p.Ala214=) http://identifiers.org/clinvar/137606 ^@ NM_020433.4(JPH2):c.1179C>T (p.His393=) http://identifiers.org/clinvar/137607 ^@ NM_020433.4(JPH2):c.1186G>A (p.Ala396Thr) http://identifiers.org/clinvar/137608 ^@ NM_020433.4(JPH2):c.1289-7C>T http://identifiers.org/clinvar/137609 ^@ NM_020433.4(JPH2):c.1728C>G (p.Pro576=) http://identifiers.org/clinvar/137610 ^@ NM_020433.4(JPH2):c.1971G>A (p.Glu657=) http://identifiers.org/clinvar/137611 ^@ NM_020433.4(JPH2):c.2073T>C (p.Phe691=) http://identifiers.org/clinvar/137612 ^@ NM_002230.2(JUP):c.1281G>A (p.Thr427=) http://identifiers.org/clinvar/137613 ^@ NM_005676.4(RBM10):c.448C>T (p.Gln150Ter) http://identifiers.org/clinvar/137614 ^@ NM_004318.3(ASPH):c.1852_1856delAACCTinsGGG (p.Asn618Glyfs) http://identifiers.org/clinvar/137615 ^@ NM_004318.3(ASPH):c.2203C>T (p.Arg735Trp) http://identifiers.org/clinvar/137616 ^@ NM_000414.3(HSD17B4):c.101C>T (p.Ala34Val) http://identifiers.org/clinvar/137617 ^@ NM_000414.3(HSD17B4):c.1547T>C (p.Ile516Thr) http://identifiers.org/clinvar/137618 ^@ NM_000414.3(HSD17B4):c.1538C>T (p.Pro513Leu) http://identifiers.org/clinvar/137619 ^@ NM_000414.3(HSD17B4):c.1628G>C (p.Arg543Pro) http://identifiers.org/clinvar/137620 ^@ NM_001429.3(EP300):c.104_107delCTCT (p.Ser35Tyrfs) http://identifiers.org/clinvar/137621 ^@ NM_022168.3(IFIH1):c.2159G>A (p.Arg720Gln) http://identifiers.org/clinvar/137622 ^@ NM_022168.3(IFIH1):c.2336G>A (p.Arg779His) http://identifiers.org/clinvar/137623 ^@ NM_022168.3(IFIH1):c.1009A>G (p.Arg337Gly) http://identifiers.org/clinvar/137624 ^@ NM_022168.3(IFIH1):c.2335C>T (p.Arg779Cys) http://identifiers.org/clinvar/137625 ^@ NM_022168.3(IFIH1):c.1483G>A (p.Gly495Arg) http://identifiers.org/clinvar/137626 ^@ NM_022168.3(IFIH1):c.1178A>T (p.Asp393Val) http://identifiers.org/clinvar/137627 ^@ NM_018993.3(RIN2):c.1731dupC (p.Ile578Hisfs) http://identifiers.org/clinvar/137628 ^@ NM_022068.3(PIEZO2):c.8238_8245delGACTAGAG (p.Trp2746Terfs) http://identifiers.org/clinvar/137629 ^@ NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His) http://identifiers.org/clinvar/137630 ^@ NM_022068.3(PIEZO2):c.8056C>T (p.Arg2686Cys) http://identifiers.org/clinvar/137631 ^@ NM_022068.3(PIEZO2):c.8153G>T (p.Arg2718Leu) http://identifiers.org/clinvar/137632 ^@ NM_022068.3(PIEZO2):c.8153G>C (p.Arg2718Pro) http://identifiers.org/clinvar/137633 ^@ NM_022068.3(PIEZO2):c.2134A>G (p.Met712Val) http://identifiers.org/clinvar/137634 ^@ NM_022068.3(PIEZO2):c.8215T>C (p.Ser2739Pro) http://identifiers.org/clinvar/137635 ^@ NM_003242.5(TGFBR2):c.571G>A (p.Val191Ile) http://identifiers.org/clinvar/137636 ^@ NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) http://identifiers.org/clinvar/137637 ^@ NM_003242.5(TGFBR2):c.1602G>A (p.Val534=) http://identifiers.org/clinvar/137638 ^@ NM_201631.3(TGM5):c.314G>A (p.Cys105Tyr) http://identifiers.org/clinvar/137639 ^@ NM_201631.3(TGM5):c.326C>T (p.Thr109Met) http://identifiers.org/clinvar/137640 ^@ NM_006351.3(TIMM44):c.396C>T (p.Ser132=) http://identifiers.org/clinvar/137641 ^@ NM_006351.3(TIMM44):c.544-9C>T http://identifiers.org/clinvar/137642 ^@ NM_006351.3(TIMM44):c.573C>T (p.Asp191=) http://identifiers.org/clinvar/137643 ^@ NM_006351.3(TIMM44):c.683+16T>A http://identifiers.org/clinvar/137644 ^@ NM_006351.3(TIMM44):c.753C>G (p.Asn251Lys) http://identifiers.org/clinvar/137645 ^@ NM_006351.3(TIMM44):c.863-8C>T http://identifiers.org/clinvar/137646 ^@ NM_006351.3(TIMM44):c.924G>A (p.Pro308=) http://identifiers.org/clinvar/137647 ^@ NM_006351.3(TIMM44):c.1114A>G (p.Ile372Val) http://identifiers.org/clinvar/137648 ^@ NM_006351.3(TIMM44):c.1128+3A>G http://identifiers.org/clinvar/137649 ^@ NM_006351.3(TIMM44):c.1305C>T (p.Tyr435=) http://identifiers.org/clinvar/137650 ^@ NM_006351.3(TIMM44):c.*20T>G http://identifiers.org/clinvar/137651 ^@ NM_006351.3(TIMM44):c.46-8C>G http://identifiers.org/clinvar/137652 ^@ NM_006351.3(TIMM44):c.69A>G (p.Gln23=) http://identifiers.org/clinvar/137653 ^@ NM_006351.3(TIMM44):c.138A>G (p.Pro46=) http://identifiers.org/clinvar/137654 ^@ NM_006351.3(TIMM44):c.184G>A (p.Gly62Ser) http://identifiers.org/clinvar/137655 ^@ NM_006351.3(TIMM44):c.203A>G (p.Lys68Arg) http://identifiers.org/clinvar/137656 ^@ NM_006351.3(TIMM44):c.45+8G>A http://identifiers.org/clinvar/137657 ^@ NM_006351.3(TIMM44):c.313-15G>A http://identifiers.org/clinvar/137658 ^@ NM_006351.3(TIMM44):c.342G>A (p.Thr114=) http://identifiers.org/clinvar/137659 ^@ NM_004085.3(TIMM8A):c.-6C>T http://identifiers.org/clinvar/137660 ^@ NM_004614.4(TK2):c.156+15T>C http://identifiers.org/clinvar/137661 ^@ NM_004614.4(TK2):c.449+14A>C http://identifiers.org/clinvar/137662 ^@ NM_004614.4(TK2):c.539-20A>G http://identifiers.org/clinvar/137663 ^@ NM_004614.4(TK2):c.576G>A (p.Arg192=) http://identifiers.org/clinvar/137664 ^@ NM_004614.4(TK2):c.700-13G>A http://identifiers.org/clinvar/137665 ^@ NM_004614.4(TK2):c.-38A>G http://identifiers.org/clinvar/137666 ^@ NM_004614.4(TK2):c.-30C>G http://identifiers.org/clinvar/137667 ^@ NM_004614.4(TK2):c.157-12G>A http://identifiers.org/clinvar/137668 ^@ NM_004614.4(TK2):c.231+10C>T http://identifiers.org/clinvar/137669 ^@ NM_032273.3(TMEM126A):c.96T>G (p.Leu32=) http://identifiers.org/clinvar/137670 ^@ NM_032273.3(TMEM126A):c.191G>A (p.Arg64His) http://identifiers.org/clinvar/137671 ^@ NM_032273.3(TMEM126A):c.562T>A (p.Ser188Thr) http://identifiers.org/clinvar/137672 ^@ NM_152388.3(TMEM237):c.-4C>G http://identifiers.org/clinvar/137673 ^@ NM_024334.2(TMEM43):c.780+16A>G http://identifiers.org/clinvar/137675 ^@ NM_024334.2(TMEM43):c.392+16G>A http://identifiers.org/clinvar/137676 ^@ NM_024334.2(TMEM43):c.443-9C>T http://identifiers.org/clinvar/137677 ^@ NM_017866.5(TMEM70):c.211-6C>T http://identifiers.org/clinvar/137678 ^@ NM_017866.5(TMEM70):c.379A>G (p.Thr127Ala) http://identifiers.org/clinvar/137679 ^@ NM_017866.5(TMEM70):c.684C>G (p.Asn228Lys) http://identifiers.org/clinvar/137680 ^@ NM_001065.3(TNFRSF1A):c.645C>T (p.Pro215=) http://identifiers.org/clinvar/137681 ^@ NM_001065.3(TNFRSF1A):c.769-3C>T http://identifiers.org/clinvar/137682 ^@ NM_001065.3(TNFRSF1A):c.339G>A (p.Glu113=) http://identifiers.org/clinvar/137683 ^@ NM_003280.2(TNNC1):c.455-14C>A http://identifiers.org/clinvar/137684 ^@ NM_000363.4(TNNI3):c.109-17C>A http://identifiers.org/clinvar/137685 ^@ NM_000363.4(TNNI3):c.139T>C (p.Leu47=) http://identifiers.org/clinvar/137687 ^@ NM_000363.4(TNNI3):c.-35C>A http://identifiers.org/clinvar/137688 ^@ NM_000363.4(TNNI3):c.609C>T (p.Gly203=) http://identifiers.org/clinvar/137689 ^@ NM_001001430.2(TNNT2):c.265-19C>T http://identifiers.org/clinvar/137690 ^@ NM_001001430.2(TNNT2):c.68-1621C>T http://identifiers.org/clinvar/137691 ^@ NM_000546.5(TP53):c.74+38C>G http://identifiers.org/clinvar/137692 ^@ NM_000546.5(TP53):c.782+17C>T http://identifiers.org/clinvar/137693 ^@ NM_022445.3(TPK1):c.663C>T (p.Tyr221=) http://identifiers.org/clinvar/137694 ^@ NM_022445.3(TPK1):c.98G>A (p.Arg33His) http://identifiers.org/clinvar/137695 ^@ NM_001018005.1(TPM1):c.115-335G>T http://identifiers.org/clinvar/137696 ^@ NM_001018005.1(TPM1):c.851+33C>T http://identifiers.org/clinvar/137697 ^@ NM_001018005.1(TPM1):c.114+14C>T http://identifiers.org/clinvar/137698 ^@ NM_000391.3(TPP1):c.185C>T (p.Ser62Leu) http://identifiers.org/clinvar/137699 ^@ NM_000391.3(TPP1):c.513G>T (p.Gly171=) http://identifiers.org/clinvar/137700 ^@ NM_000391.3(TPP1):c.688-18C>T http://identifiers.org/clinvar/137701 ^@ NM_000391.3(TPP1):c.1117C>G (p.Gln373Glu) http://identifiers.org/clinvar/137702 ^@ NM_000391.3(TPP1):c.1125C>T (p.Arg375=) http://identifiers.org/clinvar/137703 ^@ NM_000391.3(TPP1):c.1253G>A (p.Arg418Gln) http://identifiers.org/clinvar/137704 ^@ NM_000391.3(TPP1):c.1396G>A (p.Val466Met) http://identifiers.org/clinvar/137705 ^@ NM_000391.3(TPP1):c.1426-10A>G http://identifiers.org/clinvar/137706 ^@ NM_000391.3(TPP1):c.1497T>C (p.Pro499=) http://identifiers.org/clinvar/137707 ^@ NM_000391.3(TPP1):c.42C>A (p.Ile14=) http://identifiers.org/clinvar/137708 ^@ NM_018006.4(TRMU):c.387A>G (p.Ala129=) http://identifiers.org/clinvar/137709 ^@ NM_018006.4(TRMU):c.442G>A (p.Glu148Lys) http://identifiers.org/clinvar/137710 ^@ NM_018006.4(TRMU):c.479C>T (p.Ala160Val) http://identifiers.org/clinvar/137711 ^@ NM_018006.4(TRMU):c.552C>T (p.Ala184=) http://identifiers.org/clinvar/137712 ^@ NM_018006.4(TRMU):c.652-16C>T http://identifiers.org/clinvar/137713 ^@ NM_018006.4(TRMU):c.864C>T (p.Asp288=) http://identifiers.org/clinvar/137714 ^@ NM_018006.4(TRMU):c.900G>T (p.Leu300=) http://identifiers.org/clinvar/137715 ^@ NM_018006.4(TRMU):c.1176G>A (p.Thr392=) http://identifiers.org/clinvar/137716 ^@ NM_018006.4(TRMU):c.1192C>T (p.Arg398Cys) http://identifiers.org/clinvar/137717 ^@ NM_018006.4(TRMU):c.*8G>C http://identifiers.org/clinvar/137718 ^@ NM_018006.4(TRMU):c.83-19T>C http://identifiers.org/clinvar/137719 ^@ NM_018006.4(TRMU):c.9C>G (p.Ala3=) http://identifiers.org/clinvar/137720 ^@ NM_018006.4(TRMU):c.10T>G (p.Leu4Val) http://identifiers.org/clinvar/137721 ^@ NM_018006.4(TRMU):c.75G>T (p.Arg25Ser) http://identifiers.org/clinvar/137722 ^@ NM_021625.4(TRPV4):c.789T>C (p.Asp263=) http://identifiers.org/clinvar/137723 ^@ NM_021625.4(TRPV4):c.795C>T (p.His265=) http://identifiers.org/clinvar/137724 ^@ NM_021625.4(TRPV4):c.1153-10C>T http://identifiers.org/clinvar/137725 ^@ NM_021625.4(TRPV4):c.2034C>T (p.Ile678=) http://identifiers.org/clinvar/137726 ^@ NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) http://identifiers.org/clinvar/137727 ^@ NM_000368.4(TSC1):c.-99C>T http://identifiers.org/clinvar/137728 ^@ NM_000368.4(TSC1):c.-68C>T http://identifiers.org/clinvar/137729 ^@ NM_000368.4(TSC1):c.201A>G (p.Pro67=) http://identifiers.org/clinvar/137730 ^@ NM_000368.4(TSC1):c.1701G>A (p.Ala567=) http://identifiers.org/clinvar/137731 ^@ NM_000368.4(TSC1):c.1977G>A (p.Ala659=) http://identifiers.org/clinvar/137732 ^@ NM_000368.4(TSC1):c.1998-19T>G http://identifiers.org/clinvar/137733 ^@ NM_000368.4(TSC1):c.2502+18A>C http://identifiers.org/clinvar/137734 ^@ NM_000548.4(TSC2):c.-29-10G>C http://identifiers.org/clinvar/137735 ^@ NM_000548.4(TSC2):c.1116C>T (p.Leu372=) http://identifiers.org/clinvar/137736 ^@ NM_000548.4(TSC2):c.138+14C>G http://identifiers.org/clinvar/137737 ^@ NM_000548.4(TSC2):c.1361+16T>G http://identifiers.org/clinvar/137738 ^@ NM_000548.4(TSC2):c.1361+18G>C http://identifiers.org/clinvar/137739 ^@ NM_000548.4(TSC2):c.1839+20G>A http://identifiers.org/clinvar/137740 ^@ NM_000548.4(TSC2):c.1869C>T (p.Ala623=) http://identifiers.org/clinvar/137741 ^@ NM_000548.4(TSC2):c.2565C>T (p.His855=) http://identifiers.org/clinvar/137742 ^@ NM_000548.4(TSC2):c.2640-13C>T http://identifiers.org/clinvar/137743 ^@ NM_000548.4(TSC2):c.2781C>T (p.Thr927=) http://identifiers.org/clinvar/137744 ^@ NM_000548.4(TSC2):c.2784C>T (p.Pro928=) http://identifiers.org/clinvar/137745 ^@ NM_000548.4(TSC2):c.3333G>A (p.Lys1111=) http://identifiers.org/clinvar/137746 ^@ NM_000548.4(TSC2):c.3815-20C>T http://identifiers.org/clinvar/137747 ^@ NM_000548.4(TSC2):c.4272C>T (p.Asp1424=) http://identifiers.org/clinvar/137748 ^@ NM_000548.4(TSC2):c.5094C>T (p.Ser1698=) http://identifiers.org/clinvar/137749 ^@ NM_025265.3(TSEN2):c.327G>A (p.Glu109=) http://identifiers.org/clinvar/137750 ^@ NM_025265.3(TSEN2):c.639T>C (p.Asp213=) http://identifiers.org/clinvar/137751 ^@ NM_025265.3(TSEN2):c.963G>A (p.Glu321=) http://identifiers.org/clinvar/137752 ^@ NM_025265.3(TSEN2):c.122G>A (p.Arg41His) http://identifiers.org/clinvar/137753 ^@ NM_025265.3(TSEN2):c.162G>A (p.Ala54=) http://identifiers.org/clinvar/137754 ^@ NM_024075.4(TSEN34):c.688C>A (p.Arg230=) http://identifiers.org/clinvar/137755 ^@ NM_207346.2(TSEN54):c.285+3G>A http://identifiers.org/clinvar/137756 ^@ NM_207346.2(TSEN54):c.333C>G (p.Arg111=) http://identifiers.org/clinvar/137757 ^@ NM_207346.2(TSEN54):c.370-19C>A http://identifiers.org/clinvar/137758 ^@ NM_207346.2(TSEN54):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/137759 ^@ NM_207346.2(TSEN54):c.1447C>G (p.Pro483Ala) http://identifiers.org/clinvar/137760 ^@ NM_207346.2(TSEN54):c.1573G>C (p.Gly525Arg) http://identifiers.org/clinvar/137761 ^@ NM_001172696.1(TSFM):c.817G>A (p.Val273Ile) http://identifiers.org/clinvar/137762 ^@ NM_001172696.1(TSFM):c.232-19T>G http://identifiers.org/clinvar/137763 ^@ NM_001172696.1(TSFM):c.361-12T>G http://identifiers.org/clinvar/137764 ^@ NM_001172696.1(TSFM):c.24C>T (p.Arg8=) http://identifiers.org/clinvar/137765 ^@ NM_001172696.1(TSFM):c.546+12A>G http://identifiers.org/clinvar/137766 ^@ NM_017775.3(TTC19):c.1041A>G (p.Gln347=) http://identifiers.org/clinvar/137767 ^@ NM_017775.3(TTC19):c.573G>A (p.Ala191=) http://identifiers.org/clinvar/137768 ^@ NM_017775.3(TTC19):c.-347C>A http://identifiers.org/clinvar/137769 ^@ NM_017775.3(TTC19):c.-340G>C http://identifiers.org/clinvar/137770 ^@ NM_017775.3(TTC19):c.-169C>G http://identifiers.org/clinvar/137771 ^@ NM_017775.3(TTC19):c.-107A>T http://identifiers.org/clinvar/137772 ^@ NM_017775.3(TTC19):c.-15G>A http://identifiers.org/clinvar/137773 ^@ NM_017775.3(TTC19):c.-1C>T http://identifiers.org/clinvar/137774 ^@ NM_001256850.1(TTN):c.28091-16G>A http://identifiers.org/clinvar/137775 ^@ NM_133379.4(TTN):c.*265+38403G>A http://identifiers.org/clinvar/137776 ^@ NM_001256850.1(TTN):c.28590C>T (p.Phe9530=) http://identifiers.org/clinvar/137777 ^@ NM_001256850.1(TTN):c.29560+19A>G http://identifiers.org/clinvar/137778 ^@ NM_001256850.1(TTN):c.29732-18C>T http://identifiers.org/clinvar/137779 ^@ NM_001256850.1(TTN):c.29937A>G (p.Lys9979=) http://identifiers.org/clinvar/137780 ^@ NM_001256850.1(TTN):c.30015C>T (p.Asp10005=) http://identifiers.org/clinvar/137781 ^@ NM_001256850.1(TTN):c.30896-17A>G http://identifiers.org/clinvar/137782 ^@ NM_001256850.1(TTN):c.32630-18T>C http://identifiers.org/clinvar/137783 ^@ NM_001256850.1(TTN):c.1246-16G>A http://identifiers.org/clinvar/137784 ^@ NM_001256850.1(TTN):c.1398+16C>T http://identifiers.org/clinvar/137785 ^@ NM_001256850.1(TTN):c.1398+18A>G http://identifiers.org/clinvar/137786 ^@ NM_001256850.1(TTN):c.34523-1944G>A http://identifiers.org/clinvar/137787 ^@ NM_001256850.1(TTN):c.1537-4G>A http://identifiers.org/clinvar/137788 ^@ NM_001256850.1(TTN):c.35863+15C>A http://identifiers.org/clinvar/137789 ^@ NM_001267550.2(TTN):c.41330-7T>A http://identifiers.org/clinvar/137790 ^@ NM_001256850.1(TTN):c.38337C>T (p.Phe12779=) http://identifiers.org/clinvar/137791 ^@ NM_001256850.1(TTN):c.40427-13T>C http://identifiers.org/clinvar/137792 ^@ NM_001256850.1(TTN):c.44109G>A (p.Val14703=) http://identifiers.org/clinvar/137793 ^@ NM_001256850.1(TTN):c.44725+16T>C http://identifiers.org/clinvar/137794 ^@ NM_001256850.1(TTN):c.45628+20C>T http://identifiers.org/clinvar/137795 ^@ NM_001256850.1(TTN):c.47483-16G>A http://identifiers.org/clinvar/137796 ^@ NM_133379.4(TTN):c.*265+137222A>G http://identifiers.org/clinvar/137797 ^@ NM_001256850.1(TTN):c.48243C>T (p.Asn16081=) http://identifiers.org/clinvar/137798 ^@ NM_133378.4(TTN):c.51461T>C (p.Val17154Ala) http://identifiers.org/clinvar/137799 ^@ NM_001267550.2(TTN):c.59344+3G>A http://identifiers.org/clinvar/137800 ^@ NM_133379.4(TTN):c.*265+161732T>G http://identifiers.org/clinvar/137801 ^@ NM_001267550.2(TTN):c.66051G>A (p.Val22017=) http://identifiers.org/clinvar/137802 ^@ NM_001256850.1(TTN):c.61237+16G>A http://identifiers.org/clinvar/137803 ^@ NM_001256850.1(TTN):c.62425+11G>C http://identifiers.org/clinvar/137804 ^@ NM_133379.4(TTN):c.*265+165910T>C http://identifiers.org/clinvar/137805 ^@ NM_001256850.1(TTN):c.63604+15G>A http://identifiers.org/clinvar/137806 ^@ NM_001267550.2(TTN):c.69716-5C>G http://identifiers.org/clinvar/137807 ^@ NM_001256850.1(TTN):c.70815A>G (p.Glu23605=) http://identifiers.org/clinvar/137808 ^@ NM_001256850.1(TTN):c.75799A>C (p.Arg25267=) http://identifiers.org/clinvar/137809 ^@ NM_001256850.1(TTN):c.78210G>A (p.Lys26070=) http://identifiers.org/clinvar/137810 ^@ NM_001256850.1(TTN):c.80325A>T (p.Thr26775=) http://identifiers.org/clinvar/137811 ^@ NM_001256850.1(TTN):c.83928C>G (p.Gly27976=) http://identifiers.org/clinvar/137812 ^@ NM_001256850.1(TTN):c.86634T>C (p.Asp28878=) http://identifiers.org/clinvar/137813 ^@ NM_001256850.1(TTN):c.90492C>A (p.Phe30164Leu) http://identifiers.org/clinvar/137814 ^@ NM_001256850.1(TTN):c.91761C>T (p.Tyr30587=) http://identifiers.org/clinvar/137815 ^@ NM_001256850.1(TTN):c.93175+11T>A http://identifiers.org/clinvar/137816 ^@ NM_001256850.1(TTN):c.93444G>A (p.Lys31148=) http://identifiers.org/clinvar/137817 ^@ NM_133379.4(TTN):c.*265+206277C>T http://identifiers.org/clinvar/137818 ^@ NM_001256850.1(TTN):c.98601C>T (p.Val32867=) http://identifiers.org/clinvar/137819 ^@ NM_001256850.1(TTN):c.99534C>T (p.Tyr33178=) http://identifiers.org/clinvar/137820 ^@ NM_001256850.1(TTN):c.100647A>G (p.Ser33549=) http://identifiers.org/clinvar/137821 ^@ NM_133379.4(TTN):c.*265+217591C>T http://identifiers.org/clinvar/137822 ^@ NM_001256850.1(TTN):c.4998A>T (p.Thr1666=) http://identifiers.org/clinvar/137823 ^@ NM_001256850.1(TTN):c.6790+12C>T http://identifiers.org/clinvar/137824 ^@ NM_001256850.1(TTN):c.7020C>T (p.Ile2340=) http://identifiers.org/clinvar/137825 ^@ NM_001256850.1(TTN):c.8116+19G>A http://identifiers.org/clinvar/137826 ^@ NM_133378.4(TTN):c.8887A>C (p.Thr2963Pro) http://identifiers.org/clinvar/137827 ^@ NM_001256850.1(TTN):c.8902+14T>A http://identifiers.org/clinvar/137828 ^@ NM_001256850.1(TTN):c.8902+16T>A http://identifiers.org/clinvar/137829 ^@ NM_001256850.1(TTN):c.9402C>T (p.Asn3134=) http://identifiers.org/clinvar/137830 ^@ NM_001256850.1(TTN):c.9789C>T (p.Ser3263=) http://identifiers.org/clinvar/137831 ^@ NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) http://identifiers.org/clinvar/137832 ^@ NM_133378.4(TTN):c.10303+2234G>A http://identifiers.org/clinvar/137833 ^@ NM_133378.4(TTN):c.10303+2439G>A http://identifiers.org/clinvar/137834 ^@ NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) http://identifiers.org/clinvar/137835 ^@ NM_001256850.1(TTN):c.11356T>C (p.Leu3786=) http://identifiers.org/clinvar/137836 ^@ NM_001256850.1(TTN):c.296-14T>C http://identifiers.org/clinvar/137837 ^@ NM_001256850.1(TTN):c.15066G>A (p.Val5022=) http://identifiers.org/clinvar/137838 ^@ NM_133379.4(TTN):c.*265+14930G>C http://identifiers.org/clinvar/137839 ^@ NM_001256850.1(TTN):c.18010A>G (p.Ile6004Val) http://identifiers.org/clinvar/137840 ^@ NM_001256850.1(TTN):c.20538C>G (p.Thr6846=) http://identifiers.org/clinvar/137841 ^@ NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) http://identifiers.org/clinvar/137842 ^@ NM_133379.4(TTN):c.*265+27655T>C http://identifiers.org/clinvar/137843 ^@ NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) http://identifiers.org/clinvar/137844 ^@ NM_001256850.1(TTN):c.24618C>T (p.Ala8206=) http://identifiers.org/clinvar/137845 ^@ NM_133379.4(TTN):c.*265+29847G>A http://identifiers.org/clinvar/137846 ^@ NM_133379.4(TTN):c.*265+30153C>T http://identifiers.org/clinvar/137847 ^@ NM_003319.4(TTN):c.13282+23115A>T http://identifiers.org/clinvar/137848 ^@ NM_000371.3(TTR):c.70-7C>T http://identifiers.org/clinvar/137849 ^@ NM_006009.3(TUBA1A):c.510T>C (p.Ser170=) http://identifiers.org/clinvar/137850 ^@ NM_006009.3(TUBA1A):c.522G>A (p.Ala174=) http://identifiers.org/clinvar/137851 ^@ NM_018943.2(TUBA8):c.748G>A (p.Val250Met) http://identifiers.org/clinvar/137852 ^@ NM_018943.2(TUBA8):c.897C>T (p.Asn299=) http://identifiers.org/clinvar/137853 ^@ NM_018943.2(TUBA8):c.1057-7C>T http://identifiers.org/clinvar/137854 ^@ NM_178012.4(TUBB2B):c.564G>T (p.Ser188=) http://identifiers.org/clinvar/137855 ^@ NM_178012.4(TUBB2B):c.609C>T (p.Asp203=) http://identifiers.org/clinvar/137856 ^@ NM_006086.3(TUBB3):c.277+8C>T http://identifiers.org/clinvar/137857 ^@ NM_006086.3(TUBB3):c.702C>T (p.Ser234=) http://identifiers.org/clinvar/137858 ^@ NM_006086.3(TUBB3):c.1215G>A (p.Glu405=) http://identifiers.org/clinvar/137859 ^@ NM_003321.4(TUFM):c.520-8A>T http://identifiers.org/clinvar/137860 ^@ NM_003321.4(TUFM):c.684+6C>T http://identifiers.org/clinvar/137861 ^@ NM_003321.4(TUFM):c.-34C>T http://identifiers.org/clinvar/137862 ^@ NM_003321.4(TUFM):c.198C>T (p.Ile66=) http://identifiers.org/clinvar/137863 ^@ NM_003331.4(TYK2):c.516C>T (p.Thr172=) http://identifiers.org/clinvar/137864 ^@ NM_003331.4(TYK2):c.1087G>A (p.Gly363Ser) http://identifiers.org/clinvar/137865 ^@ NM_003331.4(TYK2):c.1477-6T>C http://identifiers.org/clinvar/137866 ^@ NM_003331.4(TYK2):c.1774-4G>C http://identifiers.org/clinvar/137867 ^@ NM_003331.4(TYK2):c.2176-18C>G http://identifiers.org/clinvar/137868 ^@ NM_003331.4(TYK2):c.2311+11G>C http://identifiers.org/clinvar/137869 ^@ NM_003331.4(TYK2):c.3310C>G (p.Pro1104Ala) http://identifiers.org/clinvar/137870 ^@ NM_001953.4(TYMP):c.204C>T (p.Gly68=) http://identifiers.org/clinvar/137871 ^@ NM_001953.4(TYMP):c.214+13G>A http://identifiers.org/clinvar/137872 ^@ NM_001953.4(TYMP):c.242G>A (p.Arg81Gln) http://identifiers.org/clinvar/137873 ^@ NM_001953.4(TYMP):c.831G>A (p.Leu277=) http://identifiers.org/clinvar/137874 ^@ NM_001953.4(TYMP):c.1074A>G (p.Arg358=) http://identifiers.org/clinvar/137875 ^@ NM_001953.4(TYMP):c.1159+12G>A http://identifiers.org/clinvar/137876 ^@ NM_001953.4(TYMP):c.1284T>A (p.Gly428=) http://identifiers.org/clinvar/137877 ^@ NM_001953.4(TYMP):c.1290G>A (p.Arg430=) http://identifiers.org/clinvar/137878 ^@ NM_001953.4(TYMP):c.1393G>A (p.Ala465Thr) http://identifiers.org/clinvar/137879 ^@ NM_001953.4(TYMP):c.*3C>T http://identifiers.org/clinvar/137880 ^@ NM_001953.4(TYMP):c.*10G>A http://identifiers.org/clinvar/137881 ^@ NM_130838.1(UBE3A):c.-6498G>A http://identifiers.org/clinvar/137882 ^@ NM_130838.1(UBE3A):c.558A>T (p.Ala186=) http://identifiers.org/clinvar/137883 ^@ NM_130838.1(UBE3A):c.1119T>C (p.Asp373=) http://identifiers.org/clinvar/137884 ^@ NM_130838.1(UBE3A):c.1125A>G (p.Glu375=) http://identifiers.org/clinvar/137885 ^@ NM_130838.1(UBE3A):c.1344A>G (p.Thr448=) http://identifiers.org/clinvar/137886 ^@ NM_130838.1(UBE3A):c.1707C>T (p.Tyr569=) http://identifiers.org/clinvar/137887 ^@ NM_130838.1(UBE3A):c.2355T>C (p.Phe785=) http://identifiers.org/clinvar/137888 ^@ NM_006294.4(UQCRB):c.91+16G>C http://identifiers.org/clinvar/137889 ^@ NM_006294.4(UQCRB):c.195G>A (p.Arg65=) http://identifiers.org/clinvar/137890 ^@ NM_006294.4(UQCRB):c.-13C>T http://identifiers.org/clinvar/137891 ^@ NM_014402.4(UQCRQ):c.108C>G (p.Pro36=) http://identifiers.org/clinvar/137892 ^@ NM_014402.4(UQCRQ):c.154+17C>T http://identifiers.org/clinvar/137893 ^@ NM_005709.3(USH1C):c.387+17C>T http://identifiers.org/clinvar/137894 ^@ NM_206933.2(USH2A):c.4457A>G (p.Lys1486Arg) http://identifiers.org/clinvar/137895 ^@ NM_206933.2(USH2A):c.6317C>T (p.Thr2106Ile) http://identifiers.org/clinvar/137896 ^@ NM_206933.2(USH2A):c.6957+19A>G http://identifiers.org/clinvar/137897 ^@ NM_206933.2(USH2A):c.8681+18A>G http://identifiers.org/clinvar/137898 ^@ NM_206933.2(USH2A):c.12612G>A (p.Thr4204=) http://identifiers.org/clinvar/137899 ^@ NM_014000.2(VCL):c.2434+19T>C http://identifiers.org/clinvar/137900 ^@ NM_014000.2(VCL):c.2799G>A (p.Ala933=) http://identifiers.org/clinvar/137901 ^@ NM_014000.2(VCL):c.3333T>C (p.Ala1111=) http://identifiers.org/clinvar/137902 ^@ NM_014000.2(VCL):c.1290C>T (p.Asp430=) http://identifiers.org/clinvar/137903 ^@ NM_014000.2(VCL):c.1353-19G>A http://identifiers.org/clinvar/137904 ^@ NM_000551.3(VHL):c.-35G>A http://identifiers.org/clinvar/137905 ^@ NM_000551.3(VHL):c.246C>T (p.Arg82=) http://identifiers.org/clinvar/137906 ^@ NM_001083961.1(WDR62):c.700-18C>T http://identifiers.org/clinvar/137907 ^@ NM_001083961.1(WDR62):c.1642+8C>T http://identifiers.org/clinvar/137908 ^@ NM_001083961.1(WDR62):c.2281C>T (p.His761Tyr) http://identifiers.org/clinvar/137909 ^@ NM_001083961.1(WDR62):c.186C>T (p.Leu62=) http://identifiers.org/clinvar/137910 ^@ NM_001083961.1(WDR62):c.2991C>T (p.Ala997=) http://identifiers.org/clinvar/137911 ^@ NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/137912 ^@ NM_006005.3(WFS1):c.1158C>T (p.Pro386=) http://identifiers.org/clinvar/137913 ^@ NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) http://identifiers.org/clinvar/137914 ^@ NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) http://identifiers.org/clinvar/137915 ^@ NM_006005.3(WFS1):c.1797C>A (p.Val599=) http://identifiers.org/clinvar/137916 ^@ NM_006005.3(WFS1):c.1800C>T (p.Thr600=) http://identifiers.org/clinvar/137917 ^@ NM_006005.3(WFS1):c.2052G>A (p.Ala684=) http://identifiers.org/clinvar/137918 ^@ NM_006005.3(WFS1):c.2124C>T (p.Arg708=) http://identifiers.org/clinvar/137919 ^@ NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) http://identifiers.org/clinvar/137920 ^@ NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) http://identifiers.org/clinvar/137921 ^@ NM_006005.3(WFS1):c.-6+11C>T http://identifiers.org/clinvar/137922 ^@ NM_213655.4(WNK1):c.1401-11C>A http://identifiers.org/clinvar/137923 ^@ NM_213655.4(WNK1):c.1479T>C (p.Asp493=) http://identifiers.org/clinvar/137924 ^@ NM_213655.4(WNK1):c.1994C>T (p.Thr665Ile) http://identifiers.org/clinvar/137925 ^@ NM_213655.4(WNK1):c.4716C>T (p.Asn1572=) http://identifiers.org/clinvar/137926 ^@ NM_213655.4(WNK1):c.4800C>T (p.Thr1600=) http://identifiers.org/clinvar/137927 ^@ NM_213655.4(WNK1):c.421G>A (p.Ala141Thr) http://identifiers.org/clinvar/137928 ^@ NM_213655.4(WNK1):c.759+15A>C http://identifiers.org/clinvar/137929 ^@ NM_005431.1(XRCC2):c.40-16T>C http://identifiers.org/clinvar/137930 ^@ NM_005431.1(XRCC2):c.282A>G (p.Thr94=) http://identifiers.org/clinvar/137931 ^@ NM_005431.1(XRCC2):c.354G>A (p.Val118=) http://identifiers.org/clinvar/137932 ^@ NM_005431.1(XRCC2):c.477C>T (p.Arg159=) http://identifiers.org/clinvar/137933 ^@ NM_005431.1(XRCC2):c.-50G>A http://identifiers.org/clinvar/137934 ^@ NM_001040436.2(YARS2):c.456G>A (p.Ala152=) http://identifiers.org/clinvar/137935 ^@ NM_001040436.2(YARS2):c.1026G>A (p.Arg342=) http://identifiers.org/clinvar/137936 ^@ NM_001040436.2(YARS2):c.1103+18T>C http://identifiers.org/clinvar/137937 ^@ NM_001040436.2(YARS2):c.291C>T (p.Gly97=) http://identifiers.org/clinvar/137938 ^@ NM_001040436.2(YARS2):c.342C>T (p.Gly114=) http://identifiers.org/clinvar/137939 ^@ NM_001079.3(ZAP70):c.563+13C>G http://identifiers.org/clinvar/137940 ^@ NM_001079.3(ZAP70):c.1482+11G>T http://identifiers.org/clinvar/137941 ^@ NM_001079.3(ZAP70):c.1677G>A (p.Glu559=) http://identifiers.org/clinvar/137942 ^@ NM_014795.3(ZEB2):c.462G>A (p.Glu154=) http://identifiers.org/clinvar/137943 ^@ NM_014795.3(ZEB2):c.759C>T (p.Arg253=) http://identifiers.org/clinvar/137944 ^@ NM_014795.3(ZEB2):c.798G>C (p.Gly266=) http://identifiers.org/clinvar/137945 ^@ NM_014795.3(ZEB2):c.1533C>T (p.Val511=) http://identifiers.org/clinvar/137946 ^@ NM_014795.3(ZEB2):c.1587G>A (p.Thr529=) http://identifiers.org/clinvar/137947 ^@ NM_014795.3(ZEB2):c.1840C>T (p.Leu614=) http://identifiers.org/clinvar/137948 ^@ NM_014795.3(ZEB2):c.2142G>A (p.Pro714=) http://identifiers.org/clinvar/137949 ^@ NM_014795.3(ZEB2):c.2205T>C (p.Pro735=) http://identifiers.org/clinvar/137950 ^@ NM_014795.3(ZEB2):c.2361T>C (p.Asn787=) http://identifiers.org/clinvar/137951 ^@ NM_014795.3(ZEB2):c.2601G>A (p.Lys867=) http://identifiers.org/clinvar/137952 ^@ NM_014795.3(ZEB2):c.2766A>T (p.Pro922=) http://identifiers.org/clinvar/137953 ^@ NM_014795.3(ZEB2):c.2886+14T>C http://identifiers.org/clinvar/137954 ^@ NM_014795.3(ZEB2):c.2973C>T (p.Ile991=) http://identifiers.org/clinvar/137955 ^@ NM_014795.3(ZEB2):c.150C>T (p.Asp50=) http://identifiers.org/clinvar/137956 ^@ NM_014795.3(ZEB2):c.375G>A (p.Thr125=) http://identifiers.org/clinvar/137957 ^@ NM_014795.3(ZEB2):c.403+18C>T http://identifiers.org/clinvar/137958 ^@ NM_003413.3(ZIC3):c.162T>C (p.Ala54=) http://identifiers.org/clinvar/137959 ^@ NM_003413.3(ZIC3):c.861G>A (p.Val287=) http://identifiers.org/clinvar/137960 ^@ NM_002230.2(JUP):c.2025T>C (p.His675=) http://identifiers.org/clinvar/137961 ^@ NM_002230.2(JUP):c.2031G>A (p.Pro677=) http://identifiers.org/clinvar/137964 ^@ NM_002230.2(JUP):c.*21C>A http://identifiers.org/clinvar/137965 ^@ NM_001193466.1(KANSL1):c.1938C>T (p.Pro646=) http://identifiers.org/clinvar/137966 ^@ NM_001193466.1(KANSL1):c.2109A>G (p.Leu703=) http://identifiers.org/clinvar/137967 ^@ NM_001193466.1(KANSL1):c.2136G>A (p.Pro712=) http://identifiers.org/clinvar/137968 ^@ NM_001193466.1(KANSL1):c.2481C>T (p.Ser827=) http://identifiers.org/clinvar/137969 ^@ NM_001193466.1(KANSL1):c.2628C>T (p.Arg876=) http://identifiers.org/clinvar/137970 ^@ NM_001193466.1(KANSL1):c.2698G>A (p.Gly900Arg) http://identifiers.org/clinvar/137971 ^@ NM_001193466.1(KANSL1):c.2949C>T (p.Tyr983=) http://identifiers.org/clinvar/137972 ^@ NM_001193466.1(KANSL1):c.3091-18C>G http://identifiers.org/clinvar/137973 ^@ NM_001193466.1(KANSL1):c.-12T>C http://identifiers.org/clinvar/137974 ^@ NM_001193466.1(KANSL1):c.773T>C (p.Leu258Ser) http://identifiers.org/clinvar/137975 ^@ NM_001193466.1(KANSL1):c.1289+18A>G http://identifiers.org/clinvar/137976 ^@ NM_000219.5(KCNE1):c.-161-753T>G http://identifiers.org/clinvar/137977 ^@ NM_000219.5(KCNE1):c.24G>A (p.Ala8=) http://identifiers.org/clinvar/137978 ^@ NM_172201.1(KCNE2):c.261C>T (p.Tyr87=) http://identifiers.org/clinvar/137979 ^@ NM_005472.4(KCNE3):c.*17C>T http://identifiers.org/clinvar/137980 ^@ NM_005472.4(KCNE3):c.-190+14C>G http://identifiers.org/clinvar/137981 ^@ NM_002241.4(KCNJ10):c.1092A>G (p.Gln364=) http://identifiers.org/clinvar/137982 ^@ NM_002241.4(KCNJ10):c.-43G>A http://identifiers.org/clinvar/137983 ^@ NM_000891.2(KCNJ2):c.174C>T (p.Phe58=) http://identifiers.org/clinvar/137984 ^@ NM_000891.2(KCNJ2):c.372C>T (p.Ser124=) http://identifiers.org/clinvar/137985 ^@ NM_000891.2(KCNJ2):c.773T>C (p.Ile258Thr) http://identifiers.org/clinvar/137986 ^@ NM_000891.2(KCNJ2):c.1035C>T (p.His345=) http://identifiers.org/clinvar/137987 ^@ NM_000891.2(KCNJ2):c.1065T>G (p.Leu355=) http://identifiers.org/clinvar/137988 ^@ NM_000891.2(KCNJ2):c.1146C>T (p.Leu382=) http://identifiers.org/clinvar/137990 ^@ NM_000890.3(KCNJ5):c.171T>C (p.Ser57=) http://identifiers.org/clinvar/137991 ^@ NM_000890.3(KCNJ5):c.810T>G (p.Leu270=) http://identifiers.org/clinvar/137992 ^@ NM_000890.3(KCNJ5):c.834T>C (p.His278=) http://identifiers.org/clinvar/137993 ^@ NM_000890.3(KCNJ5):c.844C>G (p.Gln282Glu) http://identifiers.org/clinvar/137994 ^@ NM_000890.3(KCNJ5):c.937+7C>T http://identifiers.org/clinvar/137995 ^@ NM_000890.3(KCNJ5):c.938-10G>A http://identifiers.org/clinvar/137996 ^@ NM_004982.3(KCNJ8):c.-66A>T http://identifiers.org/clinvar/137997 ^@ NM_004982.3(KCNJ8):c.291C>G (p.Ala97=) http://identifiers.org/clinvar/137998 ^@ NM_004982.3(KCNJ8):c.1001T>C (p.Val334Ala) http://identifiers.org/clinvar/137999 ^@ NM_000218.2(KCNQ1):c.683+20T>C http://identifiers.org/clinvar/138001 ^@ NM_000218.2(KCNQ1):c.811C>T (p.Leu271=) http://identifiers.org/clinvar/138002 ^@ NM_000218.2(KCNQ1):c.1128+4C>T http://identifiers.org/clinvar/138003 ^@ NM_000218.2(KCNQ1):c.386+16216G>A http://identifiers.org/clinvar/138004 ^@ NM_000218.2(KCNQ1):c.1394-8C>T http://identifiers.org/clinvar/138005 ^@ NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) http://identifiers.org/clinvar/138006 ^@ NM_000218.2(KCNQ1):c.1794+11G>A http://identifiers.org/clinvar/138007 ^@ NM_000218.2(KCNQ1):c.1860C>T (p.His620=) http://identifiers.org/clinvar/138008 ^@ NM_000218.2(KCNQ1):c.1944C>T (p.Val648=) http://identifiers.org/clinvar/138009 ^@ NM_000218.2(KCNQ1):c.-5T>C http://identifiers.org/clinvar/138010 ^@ NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) http://identifiers.org/clinvar/138011 ^@ NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) http://identifiers.org/clinvar/138012 ^@ NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) http://identifiers.org/clinvar/138013 ^@ NM_172107.3(KCNQ2):c.297-18C>T http://identifiers.org/clinvar/138014 ^@ NM_172107.3(KCNQ2):c.303C>G (p.Leu101=) http://identifiers.org/clinvar/138015 ^@ NM_172107.3(KCNQ2):c.570C>T (p.Asn190=) http://identifiers.org/clinvar/138016 ^@ NM_172107.3(KCNQ2):c.754T>C (p.Leu252=) http://identifiers.org/clinvar/138017 ^@ NM_172107.3(KCNQ2):c.888C>T (p.Thr296=) http://identifiers.org/clinvar/138018 ^@ NM_172107.3(KCNQ2):c.1023+9A>G http://identifiers.org/clinvar/138019 ^@ NM_172107.3(KCNQ2):c.1118+69C>A http://identifiers.org/clinvar/138020 ^@ NM_172107.3(KCNQ2):c.1301+7C>T http://identifiers.org/clinvar/138021 ^@ NM_172107.3(KCNQ2):c.1302-11C>G http://identifiers.org/clinvar/138022 ^@ NM_172107.3(KCNQ2):c.1302-11C>T http://identifiers.org/clinvar/138023 ^@ NM_172107.3(KCNQ2):c.1419C>T (p.Leu473=) http://identifiers.org/clinvar/138024 ^@ NM_172107.3(KCNQ2):c.1458C>T (p.Phe486=) http://identifiers.org/clinvar/138025 ^@ NM_172107.3(KCNQ2):c.1632-18C>A http://identifiers.org/clinvar/138026 ^@ NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) http://identifiers.org/clinvar/138027 ^@ NM_172107.3(KCNQ2):c.1763+17C>A http://identifiers.org/clinvar/138028 ^@ NM_172107.3(KCNQ2):c.1827C>T (p.Ala609=) http://identifiers.org/clinvar/138029 ^@ NM_172107.3(KCNQ2):c.1833G>A (p.Ala611=) http://identifiers.org/clinvar/138030 ^@ NM_172107.3(KCNQ2):c.2106G>A (p.Ser702=) http://identifiers.org/clinvar/138031 ^@ NM_172107.3(KCNQ2):c.2385C>T (p.His795=) http://identifiers.org/clinvar/138032 ^@ NM_172107.3(KCNQ2):c.2529C>T (p.Ser843=) http://identifiers.org/clinvar/138033 ^@ NM_172107.3(KCNQ2):c.2544G>A (p.Pro848=) http://identifiers.org/clinvar/138034 ^@ NM_172107.3(KCNQ2):c.2556G>A (p.Pro852=) http://identifiers.org/clinvar/138036 ^@ NM_172109.2(KCNQ2):c.-42G>T http://identifiers.org/clinvar/138037 ^@ NM_172107.3(KCNQ2):c.-11C>T http://identifiers.org/clinvar/138038 ^@ NM_172107.3(KCNQ2):c.81G>A (p.Leu27=) http://identifiers.org/clinvar/138039 ^@ NM_001204824.1(KCNQ3):c.418-17A>C http://identifiers.org/clinvar/138040 ^@ NM_004519.3(KCNQ3):c.948C>T (p.Thr316=) http://identifiers.org/clinvar/138041 ^@ NM_001204824.1(KCNQ3):c.594C>A (p.Gly198=) http://identifiers.org/clinvar/138042 ^@ NM_004519.3(KCNQ3):c.1236-16C>T http://identifiers.org/clinvar/138043 ^@ NM_004519.3(KCNQ3):c.1568+12A>G http://identifiers.org/clinvar/138044 ^@ NM_004519.3(KCNQ3):c.1626T>C (p.Asp542=) http://identifiers.org/clinvar/138045 ^@ NM_004519.3(KCNQ3):c.1701-17C>T http://identifiers.org/clinvar/138046 ^@ NM_001204824.1(KCNQ3):c.1557C>T (p.Leu519=) http://identifiers.org/clinvar/138047 ^@ NM_001204824.1(KCNQ3):c.1575A>G (p.Gln525=) http://identifiers.org/clinvar/138048 ^@ NM_001204824.1(KCNQ3):c.1587G>A (p.Arg529=) http://identifiers.org/clinvar/138049 ^@ NM_001204824.1(KCNQ3):c.1737C>T (p.Phe579=) http://identifiers.org/clinvar/138050 ^@ NM_004519.3(KCNQ3):c.2168G>A (p.Gly723Glu) http://identifiers.org/clinvar/138051 ^@ NM_004519.3(KCNQ3):c.2306C>A (p.Pro769His) http://identifiers.org/clinvar/138052 ^@ NM_001204824.1(KCNQ3):c.1989G>A (p.Thr663=) http://identifiers.org/clinvar/138053 ^@ NM_001204824.1(KCNQ3):c.-33067G>A http://identifiers.org/clinvar/138054 ^@ NM_153033.4(KCTD7):c.687T>C (p.Asp229=) http://identifiers.org/clinvar/138055 ^@ NM_153033.4(KCTD7):c.*9G>T http://identifiers.org/clinvar/138056 ^@ NM_153033.4(KCTD7):c.-49C>T http://identifiers.org/clinvar/138057 ^@ NM_153033.4(KCTD7):c.384G>A (p.Glu128=) http://identifiers.org/clinvar/138058 ^@ NM_004321.7(KIF1A):c.3598+11T>C http://identifiers.org/clinvar/138059 ^@ NM_198525.2(KIF7):c.-5T>G http://identifiers.org/clinvar/138060 ^@ NM_004985.4(KRAS):c.451-14T>C http://identifiers.org/clinvar/138061 ^@ NM_004985.4(KRAS):c.90C>T (p.Asp30=) http://identifiers.org/clinvar/138062 ^@ NM_004985.4(KRAS):c.-48G>A http://identifiers.org/clinvar/138063 ^@ NM_004985.4(KRAS):c.-27C>T http://identifiers.org/clinvar/138064 ^@ NM_004985.4(KRAS):c.-12+18C>T http://identifiers.org/clinvar/138066 ^@ NM_002290.4(LAMA4):c.456T>A (p.Ala152=) http://identifiers.org/clinvar/138067 ^@ NM_002290.4(LAMA4):c.827A= (p.Asp276=) http://identifiers.org/clinvar/138068 ^@ NM_002290.4(LAMA4):c.828C= (p.Asp276=) http://identifiers.org/clinvar/138069 ^@ NM_002290.4(LAMA4):c.1833G>A (p.Gln611=) http://identifiers.org/clinvar/138070 ^@ NM_006059.3(LAMC3):c.-42C>G http://identifiers.org/clinvar/138071 ^@ NM_002294.2(LAMP2):c.1093+2450G>A http://identifiers.org/clinvar/138072 ^@ NM_002294.2(LAMP2):c.-33C>T http://identifiers.org/clinvar/138073 ^@ NM_002294.2(LAMP2):c.-27C>T http://identifiers.org/clinvar/138074 ^@ NM_002294.2(LAMP2):c.-10C>T http://identifiers.org/clinvar/138075 ^@ NM_004737.5(LARGE1):c.-63C>T http://identifiers.org/clinvar/138076 ^@ NM_004737.5(LARGE1):c.893-17C>G http://identifiers.org/clinvar/138077 ^@ NM_020117.10(LARS):c.245A>G (p.Lys82Arg) http://identifiers.org/clinvar/138078 ^@ NM_020117.10(LARS):c.294+8C>T http://identifiers.org/clinvar/138079 ^@ NM_020117.10(LARS):c.294+9G>A http://identifiers.org/clinvar/138080 ^@ NM_020117.10(LARS):c.295-11A>G http://identifiers.org/clinvar/138081 ^@ NM_020117.10(LARS):c.354A>G (p.Pro118=) http://identifiers.org/clinvar/138082 ^@ NM_020117.10(LARS):c.495C>T (p.Gly165=) http://identifiers.org/clinvar/138083 ^@ NM_020117.10(LARS):c.648A>C (p.Ser216=) http://identifiers.org/clinvar/138084 ^@ NM_020117.10(LARS):c.1692C>T (p.Thr564=) http://identifiers.org/clinvar/138085 ^@ NM_020117.10(LARS):c.1747C>T (p.Leu583=) http://identifiers.org/clinvar/138086 ^@ NM_020117.10(LARS):c.1860G>A (p.Glu620=) http://identifiers.org/clinvar/138087 ^@ NM_020117.10(LARS):c.2094C>T (p.Asp698=) http://identifiers.org/clinvar/138088 ^@ NM_020117.10(LARS):c.2149-16T>C http://identifiers.org/clinvar/138089 ^@ NM_020117.10(LARS):c.2212+13T>C http://identifiers.org/clinvar/138090 ^@ NM_020117.10(LARS):c.2488-7T>G http://identifiers.org/clinvar/138091 ^@ NM_020117.10(LARS):c.2578G>A (p.Ala860Thr) http://identifiers.org/clinvar/138092 ^@ NM_020117.10(LARS):c.2628+8C>T http://identifiers.org/clinvar/138093 ^@ NM_020117.10(LARS):c.2629-10T>C http://identifiers.org/clinvar/138094 ^@ NM_020117.10(LARS):c.2673T>G (p.Val891=) http://identifiers.org/clinvar/138095 ^@ NM_020117.10(LARS):c.2674A>G (p.Asn892Asp) http://identifiers.org/clinvar/138096 ^@ NM_020117.10(LARS):c.2775T>C (p.Thr925=) http://identifiers.org/clinvar/138097 ^@ NM_020117.10(LARS):c.2817T>C (p.Tyr939=) http://identifiers.org/clinvar/138098 ^@ NM_020117.10(LARS):c.2889C>T (p.Asn963=) http://identifiers.org/clinvar/138099 ^@ NM_020117.10(LARS):c.3263G>A (p.Arg1088Lys) http://identifiers.org/clinvar/138100 ^@ NM_007078.2(LDB3):c.465C>T (p.Leu155=) http://identifiers.org/clinvar/138101 ^@ NM_007078.2(LDB3):c.896+6731C>T http://identifiers.org/clinvar/138102 ^@ NM_007078.2(LDB3):c.1035C>T (p.Ile345=) http://identifiers.org/clinvar/138103 ^@ NM_007078.2(LDB3):c.1335C>T (p.Tyr445=) http://identifiers.org/clinvar/138104 ^@ NM_007078.2(LDB3):c.-146G>A http://identifiers.org/clinvar/138105 ^@ NM_007078.2(LDB3):c.-134A>G http://identifiers.org/clinvar/138106 ^@ NM_007078.2(LDB3):c.-114T>C http://identifiers.org/clinvar/138107 ^@ NM_003240.4(LEFTY2):c.324G>A (p.Pro108=) http://identifiers.org/clinvar/138108 ^@ NM_003240.4(LEFTY2):c.497+13C>G http://identifiers.org/clinvar/138109 ^@ NM_003240.4(LEFTY2):c.774C>T (p.Thr258=) http://identifiers.org/clinvar/138110 ^@ NM_003240.4(LEFTY2):c.857C>T (p.Pro286Leu) http://identifiers.org/clinvar/138111 ^@ NM_003240.4(LEFTY2):c.982G>A (p.Val328Ile) http://identifiers.org/clinvar/138112 ^@ NM_005097.3(LGI1):c.345A>G (p.Pro115=) http://identifiers.org/clinvar/138113 ^@ NM_005097.3(LGI1):c.717A>C (p.Ile239=) http://identifiers.org/clinvar/138114 ^@ NM_005097.3(LGI1):c.744G>A (p.Glu248=) http://identifiers.org/clinvar/138115 ^@ NM_005097.3(LGI1):c.1155A>C (p.Leu385=) http://identifiers.org/clinvar/138116 ^@ NM_000233.3(LHCGR):c.872A>G (p.Asn291Ser) http://identifiers.org/clinvar/138117 ^@ NM_006859.3(LIAS):c.884-14T>A http://identifiers.org/clinvar/138118 ^@ NM_006859.3(LIAS):c.306C>A (p.Leu102=) http://identifiers.org/clinvar/138119 ^@ NM_006859.3(LIAS):c.393+10G>A http://identifiers.org/clinvar/138120 ^@ NM_006859.3(LIAS):c.-35C>T http://identifiers.org/clinvar/138121 ^@ NM_006859.3(LIAS):c.-32A>T http://identifiers.org/clinvar/138122 ^@ NM_006859.3(LIAS):c.507A>G (p.Glu169=) http://identifiers.org/clinvar/138123 ^@ NM_006859.3(LIAS):c.737+13A>T http://identifiers.org/clinvar/138124 ^@ NM_018368.3(LMBRD1):c.1407T>A (p.Asp469Glu) http://identifiers.org/clinvar/138125 ^@ NM_170707.3(LMNA):c.357-4426G>A http://identifiers.org/clinvar/138127 ^@ NM_014646.2(LPIN2):c.120T>C (p.Asp40=) http://identifiers.org/clinvar/138128 ^@ NM_014646.2(LPIN2):c.147C>T (p.His49=) http://identifiers.org/clinvar/138129 ^@ NM_014646.2(LPIN2):c.1011C>T (p.Ser337=) http://identifiers.org/clinvar/138130 ^@ NM_014646.2(LPIN2):c.1410C>T (p.Thr470=) http://identifiers.org/clinvar/138131 ^@ NM_014646.2(LPIN2):c.1793+17C>T http://identifiers.org/clinvar/138132 ^@ NM_014646.2(LPIN2):c.1794-9G>A http://identifiers.org/clinvar/138133 ^@ NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) http://identifiers.org/clinvar/138134 ^@ NM_014646.2(LPIN2):c.2316C>T (p.Ser772=) http://identifiers.org/clinvar/138135 ^@ NM_014646.2(LPIN2):c.2327+11G>A http://identifiers.org/clinvar/138136 ^@ NM_014646.2(LPIN2):c.2328-13A>T http://identifiers.org/clinvar/138137 ^@ NM_014646.2(LPIN2):c.2443-9C>T http://identifiers.org/clinvar/138138 ^@ NM_014646.2(LPIN2):c.2568C>T (p.Leu856=) http://identifiers.org/clinvar/138139 ^@ NM_014646.2:c.+3C>T http://identifiers.org/clinvar/138140 ^@ NM_133259.3(LRPPRC):c.347-19A>G http://identifiers.org/clinvar/138141 ^@ NM_133259.3(LRPPRC):c.1432A>G (p.Thr478Ala) http://identifiers.org/clinvar/138142 ^@ NM_133259.3(LRPPRC):c.1488+16G>A http://identifiers.org/clinvar/138143 ^@ NM_133259.3(LRPPRC):c.1736-14G>A http://identifiers.org/clinvar/138144 ^@ NM_133259.3(LRPPRC):c.1888C>T (p.Leu630=) http://identifiers.org/clinvar/138145 ^@ NM_133259.3(LRPPRC):c.2325A>G (p.Lys775=) http://identifiers.org/clinvar/138146 ^@ NM_133259.3(LRPPRC):c.2481A>G (p.Pro827=) http://identifiers.org/clinvar/138147 ^@ NM_133259.3(LRPPRC):c.-11A>G http://identifiers.org/clinvar/138148 ^@ NM_133259.3(LRPPRC):c.41C>G (p.Ala14Gly) http://identifiers.org/clinvar/138149 ^@ NM_133259.3(LRPPRC):c.58C>T (p.Leu20Phe) http://identifiers.org/clinvar/138150 ^@ NM_133259.3(LRPPRC):c.64C>G (p.Leu22Val) http://identifiers.org/clinvar/138151 ^@ NM_133259.3(LRPPRC):c.149+19T>C http://identifiers.org/clinvar/138152 ^@ NM_133259.3(LRPPRC):c.149+20C>G http://identifiers.org/clinvar/138153 ^@ NM_133259.3(LRPPRC):c.3570-3C>T http://identifiers.org/clinvar/138154 ^@ NM_133259.3(LRPPRC):c.3825+15C>T http://identifiers.org/clinvar/138155 ^@ NM_002755.3(MAP2K1):c.69C>T (p.Thr23=) http://identifiers.org/clinvar/138156 ^@ NM_002755.3(MAP2K1):c.636C>T (p.Ser212=) http://identifiers.org/clinvar/138157 ^@ NM_030662.3(MAP2K2):c.529-12G>A http://identifiers.org/clinvar/138158 ^@ NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) http://identifiers.org/clinvar/138159 ^@ NM_030662.3(MAP2K2):c.690G>A (p.Thr230=) http://identifiers.org/clinvar/138160 ^@ NM_030662.3(MAP2K2):c.705+11G>C http://identifiers.org/clinvar/138161 ^@ NM_030662.3(MAP2K2):c.825G>A (p.Leu275=) http://identifiers.org/clinvar/138162 ^@ NM_030662.3(MAP2K2):c.1005C>T (p.Asn335=) http://identifiers.org/clinvar/138163 ^@ NM_030662.3(MAP2K2):c.1046+13G>A http://identifiers.org/clinvar/138164 ^@ NM_030662.3(MAP2K2):c.*19C>T http://identifiers.org/clinvar/138165 ^@ NM_030662.3(MAP2K2):c.93-20A>C http://identifiers.org/clinvar/138166 ^@ NM_030662.3(MAP2K2):c.303+11C>T http://identifiers.org/clinvar/138167 ^@ NM_138395.3(MARS2):c.471C>T (p.Arg157=) http://identifiers.org/clinvar/138168 ^@ NM_138395.3(MARS2):c.1580T>C (p.Val527Ala) http://identifiers.org/clinvar/138169 ^@ NM_138395.3(MARS2):c.12G>A (p.Thr4=) http://identifiers.org/clinvar/138170 ^@ NM_138395.3(MARS2):c.24C>G (p.Arg8=) http://identifiers.org/clinvar/138171 ^@ NM_018328.4(MBD5):c.-556-8T>C http://identifiers.org/clinvar/138172 ^@ NM_018328.4(MBD5):c.297A>G (p.Leu99=) http://identifiers.org/clinvar/138173 ^@ NM_018328.4(MBD5):c.398-12C>T http://identifiers.org/clinvar/138174 ^@ NM_018328.4(MBD5):c.1368G>T (p.Ser456=) http://identifiers.org/clinvar/138175 ^@ NM_018328.4(MBD5):c.1596A>G (p.Val532=) http://identifiers.org/clinvar/138176 ^@ NM_018328.4(MBD5):c.2519-18T>G http://identifiers.org/clinvar/138177 ^@ NM_018328.4(MBD5):c.3243T>A (p.Gly1081=) http://identifiers.org/clinvar/138178 ^@ NM_018328.4(MBD5):c.3310A>G (p.Ile1104Val) http://identifiers.org/clinvar/138179 ^@ NM_020166.4(MCCC1):c.726T>C (p.Asp242=) http://identifiers.org/clinvar/138180 ^@ NM_020166.4(MCCC1):c.-25C>A http://identifiers.org/clinvar/138181 ^@ NM_020166.4(MCCC1):c.2149G>A (p.Glu717Lys) http://identifiers.org/clinvar/138182 ^@ NM_032601.3(MCEE):c.227C>T (p.Ala76Val) http://identifiers.org/clinvar/138183 ^@ NM_032601.3(MCEE):c.311G>T (p.Arg104Leu) http://identifiers.org/clinvar/138184 ^@ NM_024596.4(MCPH1):c.513T>G (p.Ser171Arg) http://identifiers.org/clinvar/138185 ^@ NM_024596.4(MCPH1):c.1738A>G (p.Ser580Gly) http://identifiers.org/clinvar/138186 ^@ NM_004992.3(MECP2):c.210C>T (p.Ser70=) http://identifiers.org/clinvar/138187 ^@ NM_004992.3(MECP2):c.590C>T (p.Thr197Met) http://identifiers.org/clinvar/138188 ^@ NM_004992.3(MECP2):c.602C>T (p.Ala201Val) http://identifiers.org/clinvar/138189 ^@ NM_004992.3(MECP2):c.603G>A (p.Ala201=) http://identifiers.org/clinvar/138190 ^@ NM_004992.3(MECP2):c.840C>T (p.Ala280=) http://identifiers.org/clinvar/138191 ^@ NM_004992.3(MECP2):c.843C>T (p.Ala281=) http://identifiers.org/clinvar/138192 ^@ NM_004992.3(MECP2):c.870G>A (p.Glu290=) http://identifiers.org/clinvar/138193 ^@ NM_004992.3(MECP2):c.1035A>G (p.Lys345=) http://identifiers.org/clinvar/138194 ^@ NM_004992.3(MECP2):c.1140G>A (p.Val380=) http://identifiers.org/clinvar/138195 ^@ NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) http://identifiers.org/clinvar/138196 ^@ NM_004992.3(MECP2):c.1404G>A (p.Arg468=) http://identifiers.org/clinvar/138197 ^@ NM_004992.3(MECP2):c.1437G>A (p.Thr479=) http://identifiers.org/clinvar/138198 ^@ NM_005120.2(MED12):c.1248+15T>C http://identifiers.org/clinvar/138199 ^@ NM_030973.3(MED25):c.1674+19C>T http://identifiers.org/clinvar/138200 ^@ NM_030973.3(MED25):c.2031G>A (p.Ala677=) http://identifiers.org/clinvar/138201 ^@ NM_030973.3(MED25):c.-12A>G http://identifiers.org/clinvar/138202 ^@ NM_002397.4(MEF2C):c.312C>T (p.Asp104=) http://identifiers.org/clinvar/138203 ^@ NM_002397.4(MEF2C):c.642C>T (p.Asn214=) http://identifiers.org/clinvar/138204 ^@ NM_002397.4(MEF2C):c.811-12G>A http://identifiers.org/clinvar/138205 ^@ NM_002397.4(MEF2C):c.834+15C>T http://identifiers.org/clinvar/138206 ^@ NM_000243.2(MEFV):c.1764A>G (p.Pro588=) http://identifiers.org/clinvar/138207 ^@ NM_000243.2(MEFV):c.549G>A (p.Pro183=) http://identifiers.org/clinvar/138208 ^@ NM_000243.2(MEFV):c.42G>A (p.Glu14=) http://identifiers.org/clinvar/138209 ^@ NM_000243.2(MEFV):c.1356+12G>C http://identifiers.org/clinvar/138210 ^@ NM_014874.3(MFN2):c.408A>T (p.Val136=) http://identifiers.org/clinvar/138211 ^@ NM_014874.3(MFN2):c.744C>T (p.Leu248=) http://identifiers.org/clinvar/138212 ^@ NM_014874.3(MFN2):c.957C>T (p.Gly319=) http://identifiers.org/clinvar/138213 ^@ NM_014874.3(MFN2):c.1039-19G>A http://identifiers.org/clinvar/138214 ^@ NM_014874.3(MFN2):c.-149-15T>G http://identifiers.org/clinvar/138215 ^@ NM_014874.3(MFN2):c.1569C>T (p.Ser523=) http://identifiers.org/clinvar/138216 ^@ NM_014874.3(MFN2):c.1641C>T (p.Leu547=) http://identifiers.org/clinvar/138217 ^@ NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) http://identifiers.org/clinvar/138218 ^@ NM_014874.3(MFN2):c.2204+15T>C http://identifiers.org/clinvar/138219 ^@ NM_014874.3(MFN2):c.150C>A (p.Ile50=) http://identifiers.org/clinvar/138220 ^@ NM_014874.3(MFN2):c.165C>T (p.Thr55=) http://identifiers.org/clinvar/138221 ^@ NM_152778.2(MFSD8):c.199-8T>C http://identifiers.org/clinvar/138222 ^@ NM_152778.2(MFSD8):c.553+20C>T http://identifiers.org/clinvar/138223 ^@ NM_152778.2(MFSD8):c.1041A>G (p.Val347=) http://identifiers.org/clinvar/138224 ^@ NM_152778.2(MFSD8):c.1287C>T (p.Gly429=) http://identifiers.org/clinvar/138225 ^@ NM_152778.2(MFSD8):c.1311C>G (p.Ser437=) http://identifiers.org/clinvar/138226 ^@ NM_152778.2(MFSD8):c.1351-9C>A http://identifiers.org/clinvar/138227 ^@ NM_152778.2(MFSD8):c.1351-9C>T http://identifiers.org/clinvar/138228 ^@ NM_152778.2(MFSD8):c.153A>G (p.Val51=) http://identifiers.org/clinvar/138229 ^@ NM_000249.3(MLH1):c.116+220T>G http://identifiers.org/clinvar/138230 ^@ NM_000249.3(MLH1):c.579A>G (p.Ser193=) http://identifiers.org/clinvar/138231 ^@ NM_000249.3(MLH1):c.207+579C>G http://identifiers.org/clinvar/138232 ^@ NM_012213.2(MLYCD):c.850A>G (p.Thr284Ala) http://identifiers.org/clinvar/138233 ^@ NM_012213.2(MLYCD):c.925A>C (p.Lys309Gln) http://identifiers.org/clinvar/138234 ^@ NM_012213.2(MLYCD):c.31A>G (p.Arg11Gly) http://identifiers.org/clinvar/138235 ^@ NM_012213.2(MLYCD):c.732G>A (p.Ser244=) http://identifiers.org/clinvar/138236 ^@ NM_172250.2(MMAA):c.-56A>G http://identifiers.org/clinvar/138237 ^@ NM_172250.2(MMAA):c.747G>A (p.Ser249=) http://identifiers.org/clinvar/138238 ^@ NM_015506.2(MMACHC):c.178G>C (p.Asp60His) http://identifiers.org/clinvar/138239 ^@ NM_015506.2(MMACHC):c.738C>T (p.Pro246=) http://identifiers.org/clinvar/138240 ^@ NM_016098.3(MPC1):c.106C>A (p.Leu36Ile) http://identifiers.org/clinvar/138241 ^@ NM_016098.3(MPC1):c.303C>T (p.His101=) http://identifiers.org/clinvar/138242 ^@ NM_000530.7(MPZ):c.600G>A (p.Gly200=) http://identifiers.org/clinvar/138243 ^@ NM_022915.3(MRPL44):c.413C>T (p.Thr138Ile) http://identifiers.org/clinvar/138244 ^@ NM_022915.3(MRPL44):c.546A>G (p.Glu182=) http://identifiers.org/clinvar/138245 ^@ NM_022915.3(MRPL44):c.624T>C (p.Pro208=) http://identifiers.org/clinvar/138246 ^@ NM_022915.3(MRPL44):c.672T>A (p.Thr224=) http://identifiers.org/clinvar/138247 ^@ NM_022915.3(MRPL44):c.827+18C>T http://identifiers.org/clinvar/138248 ^@ NM_022915.3(MRPL44):c.828-13G>C http://identifiers.org/clinvar/138249 ^@ NM_016065.3(MRPS16):c.-8G>C http://identifiers.org/clinvar/138250 ^@ NM_020191.2(MRPS22):c.201A>G (p.Lys67=) http://identifiers.org/clinvar/138251 ^@ NM_020191.2(MRPS22):c.283A>C (p.Ile95Leu) http://identifiers.org/clinvar/138252 ^@ NM_020191.2(MRPS22):c.6G>A (p.Ala2=) http://identifiers.org/clinvar/138253 ^@ NM_000251.2(MSH2):c.1277-16T>C http://identifiers.org/clinvar/138254 ^@ NM_000251.2(MSH2):c.1560A>G (p.Gly520=) http://identifiers.org/clinvar/138255 ^@ NM_000251.2(MSH2):c.2205C>T (p.Ile735=) http://identifiers.org/clinvar/138256 ^@ NM_000179.2(MSH6):c.984C>T (p.Ser328=) http://identifiers.org/clinvar/138257 ^@ NM_000179.2(MSH6):c.1176T>C (p.Asp392=) http://identifiers.org/clinvar/138258 ^@ NM_000179.2(MSH6):c.1665A>G (p.Ala555=) http://identifiers.org/clinvar/138259 ^@ NM_000179.2(MSH6):c.2724A>G (p.Glu908=) http://identifiers.org/clinvar/138260 ^@ NM_000179.2(MSH6):c.3172+20T>C http://identifiers.org/clinvar/138261 ^@ NM_000179.2(MSH6):c.3173-18T>A http://identifiers.org/clinvar/138262 ^@ NM_000179.2(MSH6):c.4002-14T>C http://identifiers.org/clinvar/138263 ^@ NM_000179.2(MSH6):c.261-14C>A http://identifiers.org/clinvar/138264 ^@ NM_139242.3(MTFMT):c.796C>T (p.Arg266Cys) http://identifiers.org/clinvar/138265 ^@ NM_139242.3(MTFMT):c.906G>A (p.Thr302=) http://identifiers.org/clinvar/138266 ^@ NM_139242.3(MTFMT):c.1065G>A (p.Gln355=) http://identifiers.org/clinvar/138267 ^@ NM_139242.3(MTFMT):c.210-6A>C http://identifiers.org/clinvar/138268 ^@ NM_139242.3(MTFMT):c.-12G>C http://identifiers.org/clinvar/138269 ^@ NM_139242.3(MTFMT):c.14T>C (p.Val5Ala) http://identifiers.org/clinvar/138270 ^@ NM_139242.3(MTFMT):c.186G>C (p.Ala62=) http://identifiers.org/clinvar/138271 ^@ NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) http://identifiers.org/clinvar/138272 ^@ NM_016156.5(MTMR2):c.80+13C>T http://identifiers.org/clinvar/138273 ^@ NM_012123.3(MTO1):c.938+7G>A http://identifiers.org/clinvar/138274 ^@ NM_012123.3(MTO1):c.1180T>C (p.Leu394=) http://identifiers.org/clinvar/138275 ^@ NM_012123.3(MTO1):c.1368T>C (p.Thr456=) http://identifiers.org/clinvar/138276 ^@ NM_012123.3(MTO1):c.1785A>G (p.Gln595=) http://identifiers.org/clinvar/138277 ^@ NM_012123.3(MTO1):c.1894C>T (p.Leu632=) http://identifiers.org/clinvar/138278 ^@ NM_012123.3(MTO1):c.1918-7T>G http://identifiers.org/clinvar/138279 ^@ NM_018109.3(MTPAP):c.115G>T (p.Asp39Tyr) http://identifiers.org/clinvar/138280 ^@ NM_018109.3(MTPAP):c.157+20C>T http://identifiers.org/clinvar/138281 ^@ NM_018109.3(MTPAP):c.555+19C>T http://identifiers.org/clinvar/138282 ^@ NM_000254.2(MTR):c.3474G>A (p.Leu1158=) http://identifiers.org/clinvar/138283 ^@ NM_000254.2(MTR):c.3492C>A (p.Arg1164=) http://identifiers.org/clinvar/138284 ^@ NM_000254.2(MTR):c.3576C>T (p.Leu1192=) http://identifiers.org/clinvar/138285 ^@ NM_000254.2(MTR):c.3711+15G>T http://identifiers.org/clinvar/138286 ^@ NM_000254.2(MTR):c.3712-8T>C http://identifiers.org/clinvar/138287 ^@ NM_000254.2(MTR):c.340-6C>T http://identifiers.org/clinvar/138288 ^@ NM_000254.2(MTR):c.2594+15T>C http://identifiers.org/clinvar/138289 ^@ NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) http://identifiers.org/clinvar/138290 ^@ NM_000254.2(MTR):c.3144A>G (p.Ala1048=) http://identifiers.org/clinvar/138291 ^@ NM_002454.2(MTRR):c.1049A>G (p.Lys350Arg) http://identifiers.org/clinvar/138292 ^@ NM_002454.2(MTRR):c.1155G>A (p.Leu385=) http://identifiers.org/clinvar/138293 ^@ NM_002454.2(MTRR):c.1243C>T (p.Arg415Cys) http://identifiers.org/clinvar/138294 ^@ NM_002454.2(MTRR):c.1349C>G (p.Pro450Arg) http://identifiers.org/clinvar/138295 ^@ NM_002454.2(MTRR):c.1370+19G>A http://identifiers.org/clinvar/138296 ^@ NM_002454.2(MTRR):c.1464A>G (p.Val488=) http://identifiers.org/clinvar/138297 ^@ NM_002454.2(MTRR):c.1536C>T (p.Ser512=) http://identifiers.org/clinvar/138298 ^@ NM_002454.2(MTRR):c.1676+20A>G http://identifiers.org/clinvar/138299 ^@ NM_002454.2(MTRR):c.1761T>C (p.Tyr587=) http://identifiers.org/clinvar/138300 ^@ NM_002454.2(MTRR):c.1783C>T (p.His595Tyr) http://identifiers.org/clinvar/138301 ^@ NM_002454.2(MTRR):c.1875G>A (p.Val625=) http://identifiers.org/clinvar/138302 ^@ NM_002454.2(MTRR):c.1911G>A (p.Ala637=) http://identifiers.org/clinvar/138303 ^@ NM_002454.2(MTRR):c.-119T>C http://identifiers.org/clinvar/138304 ^@ NM_002454.2(MTRR):c.524C>T (p.Ser175Leu) http://identifiers.org/clinvar/138305 ^@ NM_002454.2(MTRR):c.537T>C (p.Leu179=) http://identifiers.org/clinvar/138306 ^@ NM_002454.2(MTRR):c.769T>A (p.Ser257Thr) http://identifiers.org/clinvar/138307 ^@ NM_001128425.1(MUTYH):c.42C>T (p.Ile14=) http://identifiers.org/clinvar/138308 ^@ NM_001128425.1(MUTYH):c.158-12C>T http://identifiers.org/clinvar/138309 ^@ NM_001128425.1(MUTYH):c.348+11G>A http://identifiers.org/clinvar/138310 ^@ NM_001128425.1(MUTYH):c.36+11C>T http://identifiers.org/clinvar/138311 ^@ NM_001128425.1(MUTYH):c.505-4A>G http://identifiers.org/clinvar/138312 ^@ NM_000431.3(MVK):c.632-18A>G http://identifiers.org/clinvar/138313 ^@ NM_000431.3(MVK):c.381G>A (p.Pro127=) http://identifiers.org/clinvar/138314 ^@ NM_000431.3(MVK):c.441C>T (p.Ala147=) http://identifiers.org/clinvar/138315 ^@ NM_000256.3(MYBPC3):c.1431A>G (p.Val477=) http://identifiers.org/clinvar/138316 ^@ NM_000256.3(MYBPC3):c.1457+20G>T http://identifiers.org/clinvar/138317 ^@ NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) http://identifiers.org/clinvar/138318 ^@ NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=) http://identifiers.org/clinvar/138319 ^@ NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) http://identifiers.org/clinvar/138320 ^@ NM_000256.3(MYBPC3):c.*26+14G>A http://identifiers.org/clinvar/138321 ^@ NM_000256.3(MYBPC3):c.506-17C>T http://identifiers.org/clinvar/138322 ^@ NM_000256.3(MYBPC3):c.909-20C>T http://identifiers.org/clinvar/138323 ^@ NM_000256.3(MYBPC3):c.909-19A>C http://identifiers.org/clinvar/138324 ^@ NM_000256.3(MYBPC3):c.909-13A>C http://identifiers.org/clinvar/138325 ^@ NM_000256.3(MYBPC3):c.1223+14T>G http://identifiers.org/clinvar/138326 ^@ NM_000256.3(MYBPC3):c.1224-19G>A http://identifiers.org/clinvar/138327 ^@ NM_002474.2(MYH11):c.1743T>C (p.Ala581=) http://identifiers.org/clinvar/138328 ^@ NM_002474.2(MYH11):c.2061C>T (p.Ser687=) http://identifiers.org/clinvar/138329 ^@ NM_002474.2(MYH11):c.2079C>T (p.Phe693=) http://identifiers.org/clinvar/138330 ^@ NM_002474.2(MYH11):c.2472C>T (p.Ala824=) http://identifiers.org/clinvar/138331 ^@ NM_002474.2(MYH11):c.2520+17A>G http://identifiers.org/clinvar/138332 ^@ NM_002474.2(MYH11):c.2961C>T (p.Ile987=) http://identifiers.org/clinvar/138333 ^@ NM_002474.2(MYH11):c.3310G>A (p.Ala1104Thr) http://identifiers.org/clinvar/138334 ^@ NM_001040113.1(MYH11):c.3721G>A (p.Ala1241Thr) http://identifiers.org/clinvar/138335 ^@ NM_002474.2(MYH11):c.3828G>A (p.Ala1276=) http://identifiers.org/clinvar/138336 ^@ NM_002474.2(MYH11):c.3858+16G>C http://identifiers.org/clinvar/138337 ^@ NM_002474.2(MYH11):c.3866T>C (p.Val1289Ala) http://identifiers.org/clinvar/138338 ^@ NM_001040113.1(MYH11):c.3988C>T (p.Leu1330=) http://identifiers.org/clinvar/138339 ^@ NM_002474.2(MYH11):c.4095C>T (p.His1365=) http://identifiers.org/clinvar/138340 ^@ NM_002474.2(MYH11):c.4116+12G>A http://identifiers.org/clinvar/138341 ^@ NM_002474.2(MYH11):c.4158C>T (p.Thr1386=) http://identifiers.org/clinvar/138342 ^@ NM_002474.2(MYH11):c.4242T>G (p.Ala1414=) http://identifiers.org/clinvar/138343 ^@ NM_001040113.1(MYH11):c.4422C>T (p.Tyr1474=) http://identifiers.org/clinvar/138344 ^@ NM_002474.2(MYH11):c.4506C>T (p.Leu1502=) http://identifiers.org/clinvar/138345 ^@ NM_002474.2(MYH11):c.4522A>G (p.Met1508Val) http://identifiers.org/clinvar/138346 ^@ NM_002474.2(MYH11):c.4578+3A>G http://identifiers.org/clinvar/138347 ^@ NM_002474.2(MYH11):c.4579-13G>A http://identifiers.org/clinvar/138348 ^@ NM_002474.2(MYH11):c.4791+4C>T http://identifiers.org/clinvar/138349 ^@ NM_002474.2(MYH11):c.5160C>T (p.Ser1720=) http://identifiers.org/clinvar/138350 ^@ NM_001040113.1(MYH11):c.5317-4C>T http://identifiers.org/clinvar/138351 ^@ NM_001143979.1(NDE1):c.948-6917G>A http://identifiers.org/clinvar/138352 ^@ NM_002474.2(MYH11):c.5379G>A (p.Gln1793=) http://identifiers.org/clinvar/138353 ^@ NM_001143979.1(NDE1):c.948-6986C>T http://identifiers.org/clinvar/138354 ^@ NM_001143979.1(NDE1):c.948-7025C>T http://identifiers.org/clinvar/138355 ^@ NM_002474.2(MYH11):c.5504+8G>C http://identifiers.org/clinvar/138356 ^@ NM_002474.2(MYH11):c.5517G>A (p.Ala1839=) http://identifiers.org/clinvar/138357 ^@ NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) http://identifiers.org/clinvar/138358 ^@ NM_002474.2(MYH11):c.5676G>C (p.Glu1892Asp) http://identifiers.org/clinvar/138359 ^@ NM_002474.2(MYH11):c.5691C>T (p.Asn1897=) http://identifiers.org/clinvar/138360 ^@ NM_002474.2(MYH11):c.5757C>T (p.Arg1919=) http://identifiers.org/clinvar/138362 ^@ NM_002474.2(MYH11):c.12G>A (p.Lys4=) http://identifiers.org/clinvar/138363 ^@ NM_002474.2(MYH11):c.135C>T (p.Phe45=) http://identifiers.org/clinvar/138364 ^@ NM_002474.2(MYH11):c.291C>T (p.Asn97=) http://identifiers.org/clinvar/138365 ^@ NM_002474.2(MYH11):c.387A>G (p.Lys129=) http://identifiers.org/clinvar/138366 ^@ NM_002474.2(MYH11):c.417C>T (p.Val139=) http://identifiers.org/clinvar/138367 ^@ NM_002474.2(MYH11):c.633+1942T>C http://identifiers.org/clinvar/138368 ^@ NM_002474.2(MYH11):c.792T>C (p.Tyr264=) http://identifiers.org/clinvar/138369 ^@ NM_002474.2(MYH11):c.987C>T (p.Thr329=) http://identifiers.org/clinvar/138370 ^@ NM_002474.2(MYH11):c.1212G>C (p.Gly404=) http://identifiers.org/clinvar/138371 ^@ NM_001040113.1(MYH11):c.1270-11G>C http://identifiers.org/clinvar/138372 ^@ NM_002474.2(MYH11):c.1419G>A (p.Gln473=) http://identifiers.org/clinvar/138373 ^@ NM_002474.2(MYH11):c.1512C>T (p.Ile504=) http://identifiers.org/clinvar/138374 ^@ NM_000257.3(MYH7):c.2184G>A (p.Ala728=) http://identifiers.org/clinvar/138375 ^@ NM_000257.3(MYH7):c.2679+7C>T http://identifiers.org/clinvar/138376 ^@ NM_000257.3(MYH7):c.2923-6C>T http://identifiers.org/clinvar/138377 ^@ NM_000257.3(MYH7):c.3402G>A (p.Lys1134=) http://identifiers.org/clinvar/138378 ^@ NM_000257.3(MYH7):c.3564T>C (p.Thr1188=) http://identifiers.org/clinvar/138379 ^@ NM_000257.3(MYH7):c.3603C>G (p.Ala1201=) http://identifiers.org/clinvar/138380 ^@ NM_000257.3(MYH7):c.3621C>T (p.Ile1207=) http://identifiers.org/clinvar/138381 ^@ NM_000257.3(MYH7):c.3993C>T (p.His1331=) http://identifiers.org/clinvar/138382 ^@ NM_000257.3(MYH7):c.4353+13T>G http://identifiers.org/clinvar/138383 ^@ NM_000257.3(MYH7):c.4827C>T (p.Asn1609=) http://identifiers.org/clinvar/138384 ^@ NM_000257.3(MYH7):c.5283+19C>T http://identifiers.org/clinvar/138385 ^@ NM_000257.3(MYH7):c.5560-12T>G http://identifiers.org/clinvar/138386 ^@ NM_000257.3(MYH7):c.5574G>A (p.Arg1858=) http://identifiers.org/clinvar/138387 ^@ NM_000257.3(MYH7):c.240C>T (p.Asn80=) http://identifiers.org/clinvar/138388 ^@ NM_000257.3(MYH7):c.540C>A (p.Ser180=) http://identifiers.org/clinvar/138389 ^@ NM_000257.3(MYH7):c.633G>A (p.Pro211=) http://identifiers.org/clinvar/138390 ^@ NM_000257.3(MYH7):c.714C>T (p.Asn238=) http://identifiers.org/clinvar/138391 ^@ NM_000257.3(MYH7):c.1119G>A (p.Ala373=) http://identifiers.org/clinvar/138392 ^@ NM_000257.3(MYH7):c.1230C>T (p.Tyr410=) http://identifiers.org/clinvar/138393 ^@ NM_000257.3(MYH7):c.1407T>C (p.Asp469=) http://identifiers.org/clinvar/138394 ^@ NM_000257.3(MYH7):c.1482T>C (p.Phe494=) http://identifiers.org/clinvar/138395 ^@ NM_000257.3(MYH7):c.1632C>T (p.Thr544=) http://identifiers.org/clinvar/138396 ^@ NM_000432.3(MYL2):c.-46G>A http://identifiers.org/clinvar/138397 ^@ NM_000432.3(MYL2):c.274+15G>C http://identifiers.org/clinvar/138398 ^@ NM_000432.3(MYL2):c.274+17G>C http://identifiers.org/clinvar/138399 ^@ NM_000432.3(MYL2):c.279G>A (p.Ala93=) http://identifiers.org/clinvar/138400 ^@ NM_000258.2(MYL3):c.482-17C>T http://identifiers.org/clinvar/138401 ^@ NM_000258.2(MYL3):c.559+19G>A http://identifiers.org/clinvar/138402 ^@ NM_000258.2(MYL3):c.-27C>T http://identifiers.org/clinvar/138403 ^@ NM_033118.3(MYLK2):c.1711-20C>G http://identifiers.org/clinvar/138404 ^@ NM_033118.3(MYLK2):c.627G>A (p.Glu209=) http://identifiers.org/clinvar/138405 ^@ NM_033118.3(MYLK2):c.-67T>C http://identifiers.org/clinvar/138406 ^@ NM_000260.3(MYO7A):c.4441+19T>C http://identifiers.org/clinvar/138407 ^@ NM_000260.3(MYO7A):c.5043+20C>T http://identifiers.org/clinvar/138408 ^@ NM_000260.3(MYO7A):c.5743-17C>T http://identifiers.org/clinvar/138409 ^@ NM_016599.4(MYOZ2):c.76+19C>T http://identifiers.org/clinvar/138410 ^@ NM_016599.4(MYOZ2):c.76+20G>A http://identifiers.org/clinvar/138411 ^@ NM_016599.4(MYOZ2):c.-42C>T http://identifiers.org/clinvar/138412 ^@ NM_032578.3(MYPN):c.903-7427G>A http://identifiers.org/clinvar/138413 ^@ NM_032578.3(MYPN):c.1079-18T>C http://identifiers.org/clinvar/138414 ^@ NM_032578.3(MYPN):c.1130+17G>A http://identifiers.org/clinvar/138415 ^@ NM_032578.3(MYPN):c.1134C>T (p.Ile378=) http://identifiers.org/clinvar/138416 ^@ NM_032578.3(MYPN):c.1245+17G>A http://identifiers.org/clinvar/138417 ^@ NM_032578.3(MYPN):c.1245+20A>G http://identifiers.org/clinvar/138418 ^@ NM_032578.3(MYPN):c.2447C>T (p.Pro816Leu) http://identifiers.org/clinvar/138419 ^@ NM_032578.3(MYPN):c.2703+17T>C http://identifiers.org/clinvar/138420 ^@ NM_032578.3(MYPN):c.-2+9C>T http://identifiers.org/clinvar/138421 ^@ NM_032578.3(MYPN):c.2886C>T (p.Val962=) http://identifiers.org/clinvar/138422 ^@ NM_032578.3(MYPN):c.2925+9G>C http://identifiers.org/clinvar/138423 ^@ NM_032578.3(MYPN):c.3078G>A (p.Gly1026=) http://identifiers.org/clinvar/138424 ^@ NM_032578.3(MYPN):c.3279C>T (p.Asp1093=) http://identifiers.org/clinvar/138425 ^@ NM_002485.4(NBN):c.38-10T>A http://identifiers.org/clinvar/138426 ^@ NM_002485.4(NBN):c.1124+6G>T http://identifiers.org/clinvar/138427 ^@ NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) http://identifiers.org/clinvar/138428 ^@ NM_002485.4(NBN):c.1914+10G>A http://identifiers.org/clinvar/138429 ^@ NM_002485.4(NBN):c.481-18A>G http://identifiers.org/clinvar/138430 ^@ NM_001143979.1(NDE1):c.572C>T (p.Thr191Ile) http://identifiers.org/clinvar/138431 ^@ NM_001143979.1(NDE1):c.837C>T (p.Tyr279=) http://identifiers.org/clinvar/138432 ^@ NM_001143979.1(NDE1):c.-94C>T http://identifiers.org/clinvar/138433 ^@ NM_006096.3(NDRG1):c.755+10T>C http://identifiers.org/clinvar/138434 ^@ NM_006096.3(NDRG1):c.756-5C>T http://identifiers.org/clinvar/138435 ^@ NM_004541.3(NDUFA1):c.141G>C (p.Leu47=) http://identifiers.org/clinvar/138436 ^@ NM_004544.3(NDUFA10):c.548-9A>G http://identifiers.org/clinvar/138437 ^@ NM_004544.3(NDUFA10):c.712G>A (p.Glu238Lys) http://identifiers.org/clinvar/138438 ^@ NM_004544.3(NDUFA10):c.749+3G>A http://identifiers.org/clinvar/138439 ^@ NM_004544.3(NDUFA10):c.245-19C>T http://identifiers.org/clinvar/138440 ^@ NM_004544.3(NDUFA10):c.24G>A (p.Leu8=) http://identifiers.org/clinvar/138441 ^@ NM_004544.3(NDUFA10):c.*2C>T http://identifiers.org/clinvar/138442 ^@ NM_175614.4(NDUFA11):c.*67+1461G>A http://identifiers.org/clinvar/138443 ^@ NM_175614.4(NDUFA11):c.48C>T (p.Thr16=) http://identifiers.org/clinvar/138444 ^@ NM_002488.4(NDUFA2):c.231C>T (p.Val77=) http://identifiers.org/clinvar/138445 ^@ NM_002488.4(NDUFA2):c.40C>G (p.Leu14Val) http://identifiers.org/clinvar/138446 ^@ NM_002488.4(NDUFA2):c.129G>A (p.Glu43=) http://identifiers.org/clinvar/138447 ^@ NM_005002.4(NDUFA9):c.411-9A>T http://identifiers.org/clinvar/138448 ^@ NM_005002.4(NDUFA9):c.552+11A>C http://identifiers.org/clinvar/138449 ^@ NM_005002.4(NDUFA9):c.553-17G>A http://identifiers.org/clinvar/138450 ^@ NM_005002.4(NDUFA9):c.13G>C (p.Ala5Pro) http://identifiers.org/clinvar/138451 ^@ NM_005002.4(NDUFA9):c.330G>T (p.Ala110=) http://identifiers.org/clinvar/138452 ^@ NM_016013.3(NDUFAF1):c.760-19A>T http://identifiers.org/clinvar/138453 ^@ NM_016013.3(NDUFAF1):c.-6T>G http://identifiers.org/clinvar/138454 ^@ NM_016013.3(NDUFAF1):c.526G>A (p.Glu176Lys) http://identifiers.org/clinvar/138455 ^@ NM_016013.3(NDUFAF1):c.558A>G (p.Ile186Met) http://identifiers.org/clinvar/138456 ^@ NM_174889.4(NDUFAF2):c.218-17A>T http://identifiers.org/clinvar/138457 ^@ NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=) http://identifiers.org/clinvar/138458 ^@ NM_199069.1(NDUFAF3):c.78-15C>G http://identifiers.org/clinvar/138459 ^@ NM_014165.3(NDUFAF4):c.111C>T (p.Asn37=) http://identifiers.org/clinvar/138460 ^@ NM_014165.3(NDUFAF4):c.280A>C (p.Arg94=) http://identifiers.org/clinvar/138461 ^@ NM_014165.3(NDUFAF4):c.120G>A (p.Leu40=) http://identifiers.org/clinvar/138462 ^@ NM_144736.4(NDUFAF7):c.115C>G (p.Pro39Ala) http://identifiers.org/clinvar/138463 ^@ NM_144736.4(NDUFAF7):c.525G>A (p.Pro175=) http://identifiers.org/clinvar/138464 ^@ NM_144736.4(NDUFAF7):c.790C>A (p.Gln264Lys) http://identifiers.org/clinvar/138465 ^@ NM_144736.4(NDUFAF7):c.1111-5T>C http://identifiers.org/clinvar/138466 ^@ NM_144736.4(NDUFAF7):c.-36G>C http://identifiers.org/clinvar/138467 ^@ NM_144736.4(NDUFAF7):c.50G>A (p.Arg17His) http://identifiers.org/clinvar/138468 ^@ NM_144736.4(NDUFAF7):c.408+16A>C http://identifiers.org/clinvar/138469 ^@ NM_005005.2(NDUFB9):c.436C>T (p.Pro146Ser) http://identifiers.org/clinvar/138470 ^@ NM_005005.2(NDUFB9):c.-43A>G http://identifiers.org/clinvar/138471 ^@ NM_005005.2(NDUFB9):c.-36C>G http://identifiers.org/clinvar/138472 ^@ NM_005005.2(NDUFB9):c.24C>T (p.Pro8=) http://identifiers.org/clinvar/138473 ^@ NM_005006.6(NDUFS1):c.414T>C (p.Asp138=) http://identifiers.org/clinvar/138474 ^@ NM_005006.6(NDUFS1):c.421-7A>G http://identifiers.org/clinvar/138475 ^@ NM_005006.6(NDUFS1):c.551+14C>A http://identifiers.org/clinvar/138476 ^@ NM_005006.6(NDUFS1):c.975C>T (p.Arg325=) http://identifiers.org/clinvar/138477 ^@ NM_005006.6(NDUFS1):c.1029T>G (p.Gly343=) http://identifiers.org/clinvar/138478 ^@ NM_005006.6(NDUFS1):c.1133+20G>A http://identifiers.org/clinvar/138479 ^@ NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) http://identifiers.org/clinvar/138480 ^@ NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=) http://identifiers.org/clinvar/138481 ^@ NM_005006.6(NDUFS1):c.2019+18A>T http://identifiers.org/clinvar/138482 ^@ NM_005006.6(NDUFS1):c.123C>T (p.Val41=) http://identifiers.org/clinvar/138483 ^@ NM_004550.4(NDUFS2):c.514+11C>T http://identifiers.org/clinvar/138484 ^@ NM_004550.4(NDUFS2):c.628-12C>T http://identifiers.org/clinvar/138485 ^@ NM_004550.4(NDUFS2):c.866+8G>A http://identifiers.org/clinvar/138486 ^@ NM_004550.4(NDUFS2):c.986+12A>G http://identifiers.org/clinvar/138487 ^@ NM_004550.4(NDUFS2):c.1354+5G>A http://identifiers.org/clinvar/138488 ^@ NM_004550.4(NDUFS2):c.-223C>G http://identifiers.org/clinvar/138489 ^@ NM_004550.4(NDUFS2):c.-20C>T http://identifiers.org/clinvar/138490 ^@ NM_004551.2(NDUFS3):c.591T>C (p.Pro197=) http://identifiers.org/clinvar/138491 ^@ NM_004551.2(NDUFS3):c.628-7C>T http://identifiers.org/clinvar/138492 ^@ NM_002495.3(NDUFS4):c.102G>A (p.Ser34=) http://identifiers.org/clinvar/138493 ^@ NM_004553.4(NDUFS6):c.-12C>T http://identifiers.org/clinvar/138494 ^@ NM_024407.4(NDUFS7):c.*13C>A http://identifiers.org/clinvar/138495 ^@ NM_024407.4(NDUFS7):c.54-18C>T http://identifiers.org/clinvar/138496 ^@ NM_024407.4(NDUFS7):c.123-20C>T http://identifiers.org/clinvar/138497 ^@ NM_024407.4(NDUFS7):c.153C>T (p.Ala51=) http://identifiers.org/clinvar/138498 ^@ NM_024407.4(NDUFS7):c.408+10G>T http://identifiers.org/clinvar/138499 ^@ NM_002496.3(NDUFS8):c.-45A>C http://identifiers.org/clinvar/138500 ^@ NM_007103.3(NDUFV1):c.348C>T (p.Asn116=) http://identifiers.org/clinvar/138501 ^@ NM_007103.3(NDUFV1):c.549C>G (p.Gly183=) http://identifiers.org/clinvar/138502 ^@ NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=) http://identifiers.org/clinvar/138503 ^@ NM_007103.3(NDUFV1):c.1163-16G>A http://identifiers.org/clinvar/138504 ^@ NM_007103.3(NDUFV1):c.72+15G>T http://identifiers.org/clinvar/138505 ^@ NM_021074.4(NDUFV2):c.118G>A (p.Val40Met) http://identifiers.org/clinvar/138506 ^@ NM_021074.4(NDUFV2):c.183+19T>A http://identifiers.org/clinvar/138507 ^@ NM_021074.4(NDUFV2):c.580-12T>A http://identifiers.org/clinvar/138508 ^@ NM_006393.2(NEBL):c.1008+18C>T http://identifiers.org/clinvar/138509 ^@ NM_006393.2(NEBL):c.2149-5G>A http://identifiers.org/clinvar/138510 ^@ NM_006158.4(NEFL):c.1170-13T>C http://identifiers.org/clinvar/138511 ^@ NM_144573.3(NEXN):c.1408G>C (p.Glu470Gln) http://identifiers.org/clinvar/138512 ^@ NM_144573.3(NEXN):c.1659+18C>G http://identifiers.org/clinvar/138513 ^@ NM_144573.3(NEXN):c.-58T>C http://identifiers.org/clinvar/138514 ^@ NM_001002755.2(NFU1):c.286C>T (p.Arg96Cys) http://identifiers.org/clinvar/138515 ^@ NM_001002755.2(NFU1):c.411T>C (p.Ile137=) http://identifiers.org/clinvar/138516 ^@ NM_001002755.2(NFU1):c.74T>A (p.Met25Lys) http://identifiers.org/clinvar/138517 ^@ NM_001002755.2(NFU1):c.-6A>G http://identifiers.org/clinvar/138518 ^@ NM_001002755.2(NFU1):c.62+9C>T http://identifiers.org/clinvar/138519 ^@ NM_001002755.2(NFU1):c.62+80T>C http://identifiers.org/clinvar/138520 ^@ NM_024782.2(NHEJ1):c.40G>A (p.Ala14Thr) http://identifiers.org/clinvar/138521 ^@ NM_024782.2(NHEJ1):c.706+7C>A http://identifiers.org/clinvar/138522 ^@ NM_198586.2(NHLRC1):c.303G>T (p.Pro101=) http://identifiers.org/clinvar/138523 ^@ NM_004387.3(NKX2-5):c.335-311A>T http://identifiers.org/clinvar/138524 ^@ NM_004387.3(NKX2-5):c.335-307T>A http://identifiers.org/clinvar/138525 ^@ NM_004387.3(NKX2-5):c.861C>T (p.Ala287=) http://identifiers.org/clinvar/138526 ^@ NM_004895.4(NLRP3):c.213C>T (p.Ala71=) http://identifiers.org/clinvar/138527 ^@ NM_004895.4(NLRP3):c.315T>C (p.Thr105=) http://identifiers.org/clinvar/138528 ^@ NM_004895.4(NLRP3):c.732G>A (p.Ala244=) http://identifiers.org/clinvar/138529 ^@ NM_004895.4(NLRP3):c.786G>A (p.Arg262=) http://identifiers.org/clinvar/138530 ^@ NM_004895.4(NLRP3):c.1050G>A (p.Thr350=) http://identifiers.org/clinvar/138531 ^@ NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) http://identifiers.org/clinvar/138532 ^@ NM_004895.4(NLRP3):c.1590C>T (p.Ala530=) http://identifiers.org/clinvar/138533 ^@ NM_004895.4(NLRP3):c.1926C>T (p.Phe642=) http://identifiers.org/clinvar/138534 ^@ NM_004895.4(NLRP3):c.2124C>T (p.Leu708=) http://identifiers.org/clinvar/138535 ^@ NM_001080413.3(NOBOX):c.1444G>A (p.Gly482Ser) http://identifiers.org/clinvar/138536 ^@ NM_001080413.3(NOBOX):c.42T>C (p.Gly14=) http://identifiers.org/clinvar/138537 ^@ NM_004959.4(NR5A1):c.516C>T (p.Ala172=) http://identifiers.org/clinvar/138538 ^@ NM_002524.4(NRAS):c.112-8A>G http://identifiers.org/clinvar/138539 ^@ NM_002524.4(NRAS):c.-50A>G http://identifiers.org/clinvar/138540 ^@ NM_001135659.2(NRXN1):c.-922+7A>C http://identifiers.org/clinvar/138541 ^@ NM_001135659.2(NRXN1):c.4336+17T>A http://identifiers.org/clinvar/138542 ^@ NM_001135659.2(NRXN1):c.897G>A (p.Ala299=) http://identifiers.org/clinvar/138543 ^@ NM_001135659.2(NRXN1):c.4337-16A>C http://identifiers.org/clinvar/138544 ^@ NM_001135659.2(NRXN1):c.4356C>T (p.Gly1452=) http://identifiers.org/clinvar/138545 ^@ NM_001135659.2(NRXN1):c.4395G>T (p.Arg1465=) http://identifiers.org/clinvar/138546 ^@ NM_001135659.2(NRXN1):c.4512T>C (p.His1504=) http://identifiers.org/clinvar/138547 ^@ NM_001135659.2(NRXN1):c.4593G>A (p.Ala1531=) http://identifiers.org/clinvar/138548 ^@ NM_001135659.2(NRXN1):c.-34C>A http://identifiers.org/clinvar/138549 ^@ NM_001135659.2(NRXN1):c.1485T>C (p.Leu495=) http://identifiers.org/clinvar/138550 ^@ NM_001135659.2(NRXN1):c.1695A>G (p.Arg565=) http://identifiers.org/clinvar/138551 ^@ NM_001135659.2(NRXN1):c.1880-16C>T http://identifiers.org/clinvar/138552 ^@ NM_001135659.2(NRXN1):c.2263+19A>G http://identifiers.org/clinvar/138553 ^@ NM_001135659.2(NRXN1):c.222C>T (p.Gly74=) http://identifiers.org/clinvar/138554 ^@ NM_001135659.2(NRXN1):c.2467+18C>A http://identifiers.org/clinvar/138555 ^@ NM_001135659.2(NRXN1):c.261C>A (p.Gly87=) http://identifiers.org/clinvar/138556 ^@ NM_001135659.2(NRXN1):c.498G>A (p.Ala166=) http://identifiers.org/clinvar/138557 ^@ NM_001135659.2(NRXN1):c.501C>G (p.Leu167=) http://identifiers.org/clinvar/138558 ^@ NM_001135659.2(NRXN1):c.2999+20A>G http://identifiers.org/clinvar/138559 ^@ NM_001135659.2(NRXN1):c.3485-109930G>T http://identifiers.org/clinvar/138560 ^@ NM_001135659.2(NRXN1):c.3485-109893G>A http://identifiers.org/clinvar/138561 ^@ NM_001135659.2(NRXN1):c.3485-109830G>A http://identifiers.org/clinvar/138562 ^@ NM_001135659.2(NRXN1):c.3485-109709A>G http://identifiers.org/clinvar/138563 ^@ NM_015537.4(NSMF):c.71+9G>A http://identifiers.org/clinvar/138564 ^@ NM_001012331.1(NTRK1):c.1869C>T (p.Ala623=) http://identifiers.org/clinvar/138565 ^@ NM_001012331.1(NTRK1):c.2029-16T>C http://identifiers.org/clinvar/138566 ^@ NM_001012331.1(NTRK1):c.2034A>G (p.Gly678=) http://identifiers.org/clinvar/138567 ^@ NM_025152.2(NUBPL):c.-1C>T http://identifiers.org/clinvar/138568 ^@ NM_002538.3(OCLN):c.699G>A (p.Leu233=) http://identifiers.org/clinvar/138570 ^@ NM_015560.2(OPA1):c.2715A>G (p.Arg905=) http://identifiers.org/clinvar/138571 ^@ NM_015560.2(OPA1):c.2808G>A (p.Ala936=) http://identifiers.org/clinvar/138572 ^@ NM_025136.3(OPA3):c.-38A>G http://identifiers.org/clinvar/138573 ^@ NM_002547.2(OPHN1):c.115G>A (p.Val39Ile) http://identifiers.org/clinvar/138574 ^@ NM_024675.3(PALB2):c.2163A>C (p.Thr721=) http://identifiers.org/clinvar/138575 ^@ NM_024675.3(PALB2):c.2742C>T (p.Phe914=) http://identifiers.org/clinvar/138576 ^@ NM_024675.3(PALB2):c.2834+18A>T http://identifiers.org/clinvar/138577 ^@ NM_024675.3(PALB2):c.1281T>C (p.Ala427=) http://identifiers.org/clinvar/138578 ^@ NM_000920.3(PC):c.2224-9T>G http://identifiers.org/clinvar/138579 ^@ NM_000920.3(PC):c.2249C>T (p.Thr750Met) http://identifiers.org/clinvar/138580 ^@ NM_000920.3(PC):c.2550C>T (p.Cys850=) http://identifiers.org/clinvar/138581 ^@ NM_000920.3(PC):c.2580C>T (p.Asp860=) http://identifiers.org/clinvar/138582 ^@ NM_000920.3(PC):c.1-35650G>A http://identifiers.org/clinvar/138583 ^@ NM_000920.3(PC):c.216G>A (p.Thr72=) http://identifiers.org/clinvar/138584 ^@ NM_000920.3(PC):c.904-17C>T http://identifiers.org/clinvar/138585 ^@ NM_000920.3(PC):c.1368+11G>A http://identifiers.org/clinvar/138586 ^@ NM_033056.3(PCDH15):c.3983+12T>C http://identifiers.org/clinvar/138587 ^@ NM_033056.3(PCDH15):c.*9048G>A http://identifiers.org/clinvar/138588 ^@ NM_033056.3:c.+15180G>A http://identifiers.org/clinvar/138589 ^@ NM_033056.3:c.+15212A>C http://identifiers.org/clinvar/138590 ^@ NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) http://identifiers.org/clinvar/138591 ^@ NM_001105243.1(PCDH19):c.2877C>T (p.Asp959=) http://identifiers.org/clinvar/138592 ^@ NM_001184880.1(PCDH19):c.3117C>T (p.Val1039=) http://identifiers.org/clinvar/138593 ^@ NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) http://identifiers.org/clinvar/138594 ^@ NM_001184880.1(PCDH19):c.3351T>C (p.Asp1117=) http://identifiers.org/clinvar/138595 ^@ NM_001184880.1(PCDH19):c.*8T>C http://identifiers.org/clinvar/138596 ^@ NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) http://identifiers.org/clinvar/138597 ^@ NM_001184880.1(PCDH19):c.717C>T (p.Ser239=) http://identifiers.org/clinvar/138598 ^@ NM_001184880.1(PCDH19):c.888C>T (p.Gly296=) http://identifiers.org/clinvar/138599 ^@ NM_001184880.1(PCDH19):c.1644G>A (p.Thr548=) http://identifiers.org/clinvar/138600 ^@ NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) http://identifiers.org/clinvar/138601 ^@ NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) http://identifiers.org/clinvar/138602 ^@ NM_006031.5(PCNT):c.7485C>T (p.Ile2495=) http://identifiers.org/clinvar/138603 ^@ NM_006031.5(PCNT):c.7536G>A (p.Pro2512=) http://identifiers.org/clinvar/138604 ^@ NM_006031.5(PCNT):c.7645G>A (p.Ala2549Thr) http://identifiers.org/clinvar/138605 ^@ NM_006031.5(PCNT):c.7652C>T (p.Ala2551Val) http://identifiers.org/clinvar/138606 ^@ NM_006031.5(PCNT):c.7800G>A (p.Ala2600=) http://identifiers.org/clinvar/138607 ^@ NM_006031.5(PCNT):c.7874G>A (p.Arg2625Gln) http://identifiers.org/clinvar/138608 ^@ NM_006031.5(PCNT):c.7913+9G>C http://identifiers.org/clinvar/138609 ^@ NM_006031.5(PCNT):c.8224G>C (p.Glu2742Gln) http://identifiers.org/clinvar/138610 ^@ NM_006031.5(PCNT):c.8258G>A (p.Arg2753His) http://identifiers.org/clinvar/138611 ^@ NM_006031.5(PCNT):c.8671G>A (p.Ala2891Thr) http://identifiers.org/clinvar/138612 ^@ NM_006031.5(PCNT):c.498A>G (p.Pro166=) http://identifiers.org/clinvar/138613 ^@ NM_006031.5(PCNT):c.520A>G (p.Ile174Val) http://identifiers.org/clinvar/138614 ^@ NM_006031.5(PCNT):c.9271A>G (p.Ser3091Gly) http://identifiers.org/clinvar/138615 ^@ NM_006031.5(PCNT):c.711T>G (p.His237Gln) http://identifiers.org/clinvar/138616 ^@ NM_006031.5(PCNT):c.2415C>G (p.Ala805=) http://identifiers.org/clinvar/138617 ^@ NM_006031.5(PCNT):c.-16G>T http://identifiers.org/clinvar/138618 ^@ NM_006031.5(PCNT):c.54+6C>T http://identifiers.org/clinvar/138619 ^@ NM_006031.5(PCNT):c.5322G>A (p.Glu1774=) http://identifiers.org/clinvar/138620 ^@ NM_006031.5(PCNT):c.5535G>A (p.Arg1845=) http://identifiers.org/clinvar/138621 ^@ NM_006031.5(PCNT):c.6290T>C (p.Leu2097Pro) http://identifiers.org/clinvar/138622 ^@ NM_006031.5(PCNT):c.6374A>C (p.His2125Pro) http://identifiers.org/clinvar/138623 ^@ NM_006031.5(PCNT):c.6384A>G (p.Thr2128=) http://identifiers.org/clinvar/138624 ^@ NM_006031.5(PCNT):c.6563T>G (p.Met2188Arg) http://identifiers.org/clinvar/138625 ^@ NM_006031.5(PCNT):c.6594T>C (p.Gly2198=) http://identifiers.org/clinvar/138626 ^@ NM_006031.5(PCNT):c.6715T>C (p.Trp2239Arg) http://identifiers.org/clinvar/138627 ^@ NM_006031.5(PCNT):c.6739C>T (p.His2247Tyr) http://identifiers.org/clinvar/138628 ^@ NM_006031.5(PCNT):c.6927A>G (p.Lys2309=) http://identifiers.org/clinvar/138629 ^@ NM_006031.5(PCNT):c.7074T>C (p.Pro2358=) http://identifiers.org/clinvar/138630 ^@ NM_006031.5(PCNT):c.7082A>G (p.Gln2361Arg) http://identifiers.org/clinvar/138631 ^@ NM_006031.5(PCNT):c.7130C>T (p.Pro2377Leu) http://identifiers.org/clinvar/138632 ^@ NM_000440.2(PDE6A):c.465C>T (p.Asn155=) http://identifiers.org/clinvar/138633 ^@ NM_000440.2(PDE6A):c.1086G>A (p.Ala362=) http://identifiers.org/clinvar/138634 ^@ NM_000440.2(PDE6A):c.1791C>T (p.Phe597=) http://identifiers.org/clinvar/138635 ^@ NM_000440.2(PDE6A):c.2337T>C (p.Phe779=) http://identifiers.org/clinvar/138636 ^@ NM_000440.2(PDE6A):c.2400C>T (p.Asp800=) http://identifiers.org/clinvar/138637 ^@ NM_000440.2(PDE6A):c.331A>C (p.Arg111=) http://identifiers.org/clinvar/138638 ^@ NM_000283.3(PDE6B):c.711+10C>T http://identifiers.org/clinvar/138639 ^@ NM_000283.3(PDE6B):c.873T>C (p.Ser291=) http://identifiers.org/clinvar/138640 ^@ NM_000283.3(PDE6B):c.915G>A (p.Thr305=) http://identifiers.org/clinvar/138641 ^@ NM_000283.3(PDE6B):c.1467+18G>A http://identifiers.org/clinvar/138642 ^@ NM_000283.3(PDE6B):c.1467+20C>T http://identifiers.org/clinvar/138643 ^@ NM_000283.3:c.+12A>G http://identifiers.org/clinvar/138644 ^@ NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) http://identifiers.org/clinvar/138645 ^@ NM_000284.3(PDHA1):c.604-15C>T http://identifiers.org/clinvar/138646 ^@ NM_000284.3(PDHA1):c.831+15C>T http://identifiers.org/clinvar/138647 ^@ NM_000284.3(PDHA1):c.899+12G>A http://identifiers.org/clinvar/138648 ^@ NM_000925.3(PDHB):c.132T>C (p.Asp44=) http://identifiers.org/clinvar/138649 ^@ NM_000925.3(PDHB):c.198A>G (p.Ala66=) http://identifiers.org/clinvar/138650 ^@ NM_000925.3(PDHB):c.288T>C (p.Ala96=) http://identifiers.org/clinvar/138651 ^@ NM_000925.3(PDHB):c.303+16T>C http://identifiers.org/clinvar/138652 ^@ NM_000925.3(PDHB):c.435G>A (p.Arg145=) http://identifiers.org/clinvar/138653 ^@ NM_000925.3(PDHB):c.-26G>A http://identifiers.org/clinvar/138654 ^@ NM_003477.2(PDHX):c.70C>G (p.Arg24Gly) http://identifiers.org/clinvar/138655 ^@ NM_003477.2(PDHX):c.160+15C>G http://identifiers.org/clinvar/138656 ^@ NM_003477.2(PDHX):c.241+3G>A http://identifiers.org/clinvar/138657 ^@ NM_003477.2(PDHX):c.339C>T (p.Ile113=) http://identifiers.org/clinvar/138658 ^@ NM_003477.2(PDHX):c.438C>T (p.Asp146=) http://identifiers.org/clinvar/138659 ^@ NM_003477.2(PDHX):c.507C>T (p.Ile169=) http://identifiers.org/clinvar/138660 ^@ NM_003477.2(PDHX):c.531C>T (p.Pro177=) http://identifiers.org/clinvar/138661 ^@ NM_003477.2(PDHX):c.566G>A (p.Arg189His) http://identifiers.org/clinvar/138662 ^@ NM_003477.2(PDHX):c.798T>C (p.Pro266=) http://identifiers.org/clinvar/138663 ^@ NM_003477.2(PDHX):c.957G>A (p.Leu319=) http://identifiers.org/clinvar/138664 ^@ NM_003477.2(PDHX):c.976G>C (p.Val326Leu) http://identifiers.org/clinvar/138665 ^@ NM_003477.2(PDHX):c.1188A>G (p.Leu396=) http://identifiers.org/clinvar/138666 ^@ NM_003477.2(PDHX):c.1331G>A (p.Arg444Lys) http://identifiers.org/clinvar/138667 ^@ NM_001142386.2(PDK3):c.-22T>C http://identifiers.org/clinvar/138668 ^@ NM_014476.5(PDLIM3):c.162C>T (p.Gly54=) http://identifiers.org/clinvar/138669 ^@ NM_014476.5(PDLIM3):c.387G>A (p.Pro129=) http://identifiers.org/clinvar/138670 ^@ NM_014476.5(PDLIM3):c.663-16C>T http://identifiers.org/clinvar/138671 ^@ NM_014476.5(PDLIM3):c.678G>A (p.Ser226=) http://identifiers.org/clinvar/138672 ^@ NM_014476.5(PDLIM3):c.831G>A (p.Pro277=) http://identifiers.org/clinvar/138673 ^@ NM_014476.5(PDLIM3):c.849C>T (p.Gly283=) http://identifiers.org/clinvar/138674 ^@ NM_014476.5(PDLIM3):c.906-18C>T http://identifiers.org/clinvar/138675 ^@ NM_014476.5(PDLIM3):c.906C>T (p.Val302=) http://identifiers.org/clinvar/138676 ^@ NM_014476.5(PDLIM3):c.*12C>T http://identifiers.org/clinvar/138677 ^@ NM_014476.5(PDLIM3):c.-29C>T http://identifiers.org/clinvar/138678 ^@ NM_014476.5(PDLIM3):c.42C>T (p.Gly14=) http://identifiers.org/clinvar/138679 ^@ NM_018444.3(PDP1):c.906C>T (p.Asp302=) http://identifiers.org/clinvar/138680 ^@ NM_018444.3(PDP1):c.1431C>T (p.Asn477=) http://identifiers.org/clinvar/138681 ^@ NM_014317.4(PDSS1):c.407T>G (p.Phe136Cys) http://identifiers.org/clinvar/138682 ^@ NM_014317.4(PDSS1):c.540T>C (p.Asp180=) http://identifiers.org/clinvar/138683 ^@ NM_014317.4(PDSS1):c.589A>G (p.Lys197Glu) http://identifiers.org/clinvar/138684 ^@ NM_014317.4(PDSS1):c.1107+17A>T http://identifiers.org/clinvar/138685 ^@ NM_014317.4(PDSS1):c.162+13A>G http://identifiers.org/clinvar/138686 ^@ NM_014317.4(PDSS1):c.-29C>T http://identifiers.org/clinvar/138687 ^@ NM_014317.4(PDSS1):c.89G>T (p.Gly30Val) http://identifiers.org/clinvar/138688 ^@ NM_020381.3(PDSS2):c.431+17C>T http://identifiers.org/clinvar/138689 ^@ NM_020381.3(PDSS2):c.7T>C (p.Phe3Leu) http://identifiers.org/clinvar/138690 ^@ NM_020381.3(PDSS2):c.11G>C (p.Arg4Pro) http://identifiers.org/clinvar/138691 ^@ NM_004572.3(PKP2):c.2615C>T (p.Thr872Ile) http://identifiers.org/clinvar/138693 ^@ NM_004572.3(PKP2):c.1511-18A>G http://identifiers.org/clinvar/138694 ^@ NM_004572.3(PKP2):c.1641T>C (p.Asn547=) http://identifiers.org/clinvar/138695 ^@ NM_004572.3(PKP2):c.2202C>G (p.Thr734=) http://identifiers.org/clinvar/138696 ^@ NM_020631.4(PLEKHG5):c.-88+5G>A http://identifiers.org/clinvar/138697 ^@ NM_000535.6(PMS2):c.765C>T (p.Tyr255=) http://identifiers.org/clinvar/138698 ^@ NM_000535.6(PMS2):c.988+11T>C http://identifiers.org/clinvar/138699 ^@ NM_000535.6(PMS2):c.1145-17C>T http://identifiers.org/clinvar/138700 ^@ NM_000535.6(PMS2):c.1560G>A (p.Ala520=) http://identifiers.org/clinvar/138701 ^@ NM_000535.6(PMS2):c.1609G>A (p.Glu537Lys) http://identifiers.org/clinvar/138702 ^@ NM_000535.6(PMS2):c.2007-16C>T http://identifiers.org/clinvar/138703 ^@ NM_000535.6(PMS2):c.2187C>G (p.Leu729=) http://identifiers.org/clinvar/138704 ^@ NM_000535.6(PMS2):c.17G>C (p.Ser6Thr) http://identifiers.org/clinvar/138705 ^@ NM_000535.6(PMS2):c.240C>T (p.Phe80=) http://identifiers.org/clinvar/138706 ^@ NM_000535.6(PMS2):c.353+9A>C http://identifiers.org/clinvar/138707 ^@ NM_007254.3(PNKP):c.151+11C>T http://identifiers.org/clinvar/138708 ^@ NM_007254.3(PNKP):c.519C>T (p.Asp173=) http://identifiers.org/clinvar/138709 ^@ NM_007254.3(PNKP):c.586T>A (p.Tyr196Asn) http://identifiers.org/clinvar/138710 ^@ NM_007254.3(PNKP):c.636+7G>A http://identifiers.org/clinvar/138711 ^@ NM_007254.3(PNKP):c.672C>T (p.Arg224=) http://identifiers.org/clinvar/138712 ^@ NM_007254.3(PNKP):c.783G>A (p.Pro261=) http://identifiers.org/clinvar/138713 ^@ NM_007254.3(PNKP):c.816+20C>T http://identifiers.org/clinvar/138714 ^@ NM_007254.3(PNKP):c.876A>G (p.Gly292=) http://identifiers.org/clinvar/138715 ^@ NM_007254.3(PNKP):c.-50G>C http://identifiers.org/clinvar/138716 ^@ NM_007254.3(PNKP):c.937-10C>T http://identifiers.org/clinvar/138717 ^@ NM_007254.3(PNKP):c.939T>C (p.Phe313=) http://identifiers.org/clinvar/138718 ^@ NM_007254.3(PNKP):c.1032G>A (p.Arg344=) http://identifiers.org/clinvar/138719 ^@ NM_007254.3(PNKP):c.1126+9C>T http://identifiers.org/clinvar/138720 ^@ NM_007254.3(PNKP):c.1257C>T (p.Val419=) http://identifiers.org/clinvar/138721 ^@ NM_007254.3(PNKP):c.1298+6G>A http://identifiers.org/clinvar/138722 ^@ NM_007254.3(PNKP):c.1299-6C>T http://identifiers.org/clinvar/138723 ^@ NM_007254.3(PNKP):c.1433T>G (p.Val478Gly) http://identifiers.org/clinvar/138724 ^@ NM_007254.3(PNKP):c.1495C>T (p.Leu499=) http://identifiers.org/clinvar/138725 ^@ NM_007254.3(PNKP):c.1522G>A (p.Glu508Lys) http://identifiers.org/clinvar/138726 ^@ NM_007254.3(PNKP):c.1557C>T (p.Ser519=) http://identifiers.org/clinvar/138727 ^@ NM_007254.3(PNKP):c.*15C>T http://identifiers.org/clinvar/138728 ^@ NM_000270.3(PNP):c.12-18A>T http://identifiers.org/clinvar/138729 ^@ NM_000270.3(PNP):c.60C>T (p.His20=) http://identifiers.org/clinvar/138730 ^@ NM_000270.3(PNP):c.171C>T (p.Pro57=) http://identifiers.org/clinvar/138731 ^@ NM_018129.3(PNPO):c.500T>C (p.Ile167Thr) http://identifiers.org/clinvar/138732 ^@ NM_018129.3(PNPO):c.546+15G>A http://identifiers.org/clinvar/138733 ^@ NM_018129.3(PNPO):c.723C>G (p.Ser241=) http://identifiers.org/clinvar/138734 ^@ NM_033109.4(PNPT1):c.566-6T>C http://identifiers.org/clinvar/138735 ^@ NM_033109.4(PNPT1):c.1074-19A>G http://identifiers.org/clinvar/138736 ^@ NM_033109.4(PNPT1):c.1074-15C>T http://identifiers.org/clinvar/138737 ^@ NM_033109.4(PNPT1):c.1390C>A (p.Arg464=) http://identifiers.org/clinvar/138738 ^@ NM_033109.4(PNPT1):c.1738+9G>C http://identifiers.org/clinvar/138739 ^@ NM_033109.4(PNPT1):c.1768A>G (p.Asn590Asp) http://identifiers.org/clinvar/138740 ^@ NM_033109.4(PNPT1):c.1938G>A (p.Thr646=) http://identifiers.org/clinvar/138741 ^@ NM_033109.4(PNPT1):c.2070-5T>C http://identifiers.org/clinvar/138742 ^@ NM_033109.4(PNPT1):c.361A>G (p.Ile121Val) http://identifiers.org/clinvar/138743 ^@ NM_002693.2(POLG):c.2028G>A (p.Ala676=) http://identifiers.org/clinvar/138744 ^@ NM_002693.2(POLG):c.2071-14T>G http://identifiers.org/clinvar/138745 ^@ NM_002693.2(POLG):c.2109C>T (p.Ala703=) http://identifiers.org/clinvar/138746 ^@ NM_002693.2(POLG):c.2157+11C>T http://identifiers.org/clinvar/138747 ^@ NM_002693.2(POLG):c.2481-7C>T http://identifiers.org/clinvar/138748 ^@ NM_002693.2(POLG):c.2541C>T (p.Ala847=) http://identifiers.org/clinvar/138749 ^@ NM_002693.2(POLG):c.2599-14C>T http://identifiers.org/clinvar/138750 ^@ NM_002693.2(POLG):c.2601T>C (p.Pro867=) http://identifiers.org/clinvar/138751 ^@ NM_002693.2(POLG):c.2735-15C>T http://identifiers.org/clinvar/138752 ^@ NM_002693.2(POLG):c.2735-7C>G http://identifiers.org/clinvar/138753 ^@ NM_002693.2(POLG):c.2853C>T (p.Tyr951=) http://identifiers.org/clinvar/138754 ^@ NM_002693.2(POLG):c.3105-11T>C http://identifiers.org/clinvar/138755 ^@ NM_002693.2(POLG):c.87C>T (p.Ser29=) http://identifiers.org/clinvar/138756 ^@ NM_002693.2(POLG):c.3198G>A (p.Thr1066=) http://identifiers.org/clinvar/138757 ^@ NM_002693.2(POLG):c.3216C>G (p.Thr1072=) http://identifiers.org/clinvar/138758 ^@ NM_002693.2(POLG):c.3274-19G>A http://identifiers.org/clinvar/138759 ^@ NM_002693.2(POLG):c.3294T>C (p.Asn1098=) http://identifiers.org/clinvar/138760 ^@ NM_002693.2(POLG):c.3482+6C>T http://identifiers.org/clinvar/138761 ^@ NM_002693.2(POLG):c.156G>A (p.Gln52=) http://identifiers.org/clinvar/138762 ^@ NM_002693.2(POLG):c.159A>G (p.Gln53=) http://identifiers.org/clinvar/138763 ^@ NM_002693.2(POLG):c.3483-19T>G http://identifiers.org/clinvar/138764 ^@ NM_002693.2(POLG):c.3483-14T>C http://identifiers.org/clinvar/138765 ^@ NM_002693.2(POLG):c.3564C>T (p.Cys1188=) http://identifiers.org/clinvar/138766 ^@ NM_002693.2(POLG):c.3597C>A (p.Thr1199=) http://identifiers.org/clinvar/138767 ^@ NM_002693.2(POLG):c.3700C>A (p.Arg1234=) http://identifiers.org/clinvar/138768 ^@ NM_002693.2(POLG):c.660-11A>G http://identifiers.org/clinvar/138769 ^@ NM_002693.2(POLG):c.798G>T (p.Val266=) http://identifiers.org/clinvar/138770 ^@ NM_002693.2(POLG):c.852C>T (p.Ile284=) http://identifiers.org/clinvar/138771 ^@ NM_002693.2(POLG):c.975C>A (p.Pro325=) http://identifiers.org/clinvar/138772 ^@ NM_002693.2(POLG):c.1066C>T (p.Leu356=) http://identifiers.org/clinvar/138773 ^@ NM_002693.2(POLG):c.1126C>T (p.Leu376=) http://identifiers.org/clinvar/138774 ^@ NM_002693.2(POLG):c.1275C>T (p.Ala425=) http://identifiers.org/clinvar/138775 ^@ NM_002693.2(POLG):c.1386G>A (p.Ser462=) http://identifiers.org/clinvar/138776 ^@ NM_002693.2(POLG):c.1585+11T>C http://identifiers.org/clinvar/138777 ^@ NM_002693.2(POLG):c.1712+10G>A http://identifiers.org/clinvar/138778 ^@ NM_002693.2(POLG):c.1713-5C>T http://identifiers.org/clinvar/138779 ^@ NM_002693.2(POLG):c.1743C>T (p.Asp581=) http://identifiers.org/clinvar/138780 ^@ NM_002693.2(POLG):c.1890C>T (p.Asn630=) http://identifiers.org/clinvar/138781 ^@ NM_002693.2(POLG):c.1949+20G>C http://identifiers.org/clinvar/138782 ^@ NM_007215.3(POLG2):c.505G>A (p.Ala169Thr) http://identifiers.org/clinvar/138783 ^@ NM_007215.3(POLG2):c.1247G>C (p.Gly416Ala) http://identifiers.org/clinvar/138784 ^@ NM_007215.3(POLG2):c.1269C>T (p.Ser423=) http://identifiers.org/clinvar/138785 ^@ NM_017739.3(POMGNT1):c.-11G>A http://identifiers.org/clinvar/138786 ^@ NM_013382.5(POMT2):c.1383A>G (p.Arg461=) http://identifiers.org/clinvar/138787 ^@ NM_013382.5(POMT2):c.2148-18A>G http://identifiers.org/clinvar/138788 ^@ NM_013382.5(POMT2):c.2175C>T (p.Tyr725=) http://identifiers.org/clinvar/138789 ^@ NM_000941.2(POR):c.1067-13C>G http://identifiers.org/clinvar/138790 ^@ NM_000941.2(POR):c.1455T>C (p.Ala485=) http://identifiers.org/clinvar/138791 ^@ NM_000310.3(PPT1):c.537-4A>G http://identifiers.org/clinvar/138792 ^@ NM_000310.3(PPT1):c.799-19A>C http://identifiers.org/clinvar/138793 ^@ NM_000310.3(PPT1):c.*3C>A http://identifiers.org/clinvar/138795 ^@ NM_000310.3(PPT1):c.*12T>C http://identifiers.org/clinvar/138796 ^@ NM_000310.3(PPT1):c.234+6G>A http://identifiers.org/clinvar/138797 ^@ NM_000310.3(PPT1):c.235-20C>A http://identifiers.org/clinvar/138798 ^@ NM_000310.3(PPT1):c.363-19A>G http://identifiers.org/clinvar/138799 ^@ NM_000310.3(PPT1):c.363-18C>G http://identifiers.org/clinvar/138800 ^@ NM_000310.3(PPT1):c.-29C>G http://identifiers.org/clinvar/138801 ^@ NM_000310.3(PPT1):c.124+18T>G http://identifiers.org/clinvar/138802 ^@ NM_153026.2(PRICKLE1):c.108C>T (p.Val36=) http://identifiers.org/clinvar/138803 ^@ NM_153026.2(PRICKLE1):c.177C>T (p.Tyr59=) http://identifiers.org/clinvar/138804 ^@ NM_153026.2(PRICKLE1):c.471C>T (p.Val157=) http://identifiers.org/clinvar/138805 ^@ NM_153026.2(PRICKLE1):c.775+20G>A http://identifiers.org/clinvar/138806 ^@ NM_153026.2(PRICKLE1):c.954C>G (p.Ser318=) http://identifiers.org/clinvar/138807 ^@ NM_153026.2(PRICKLE1):c.954C>T (p.Ser318=) http://identifiers.org/clinvar/138808 ^@ NM_153026.2(PRICKLE1):c.1461C>T (p.Ser487=) http://identifiers.org/clinvar/138809 ^@ NM_153026.2(PRICKLE1):c.-49+19C>T http://identifiers.org/clinvar/138810 ^@ NM_016203.3(PRKAG2):c.591C>T (p.Pro197=) http://identifiers.org/clinvar/138811 ^@ NM_016203.3(PRKAG2):c.1234-17G>A http://identifiers.org/clinvar/138812 ^@ NM_144773.3(PROKR2):c.525C>G (p.Ala175=) http://identifiers.org/clinvar/138813 ^@ NM_145239.2(PRRT2):c.439G>C (p.Asp147His) http://identifiers.org/clinvar/138814 ^@ NM_145239.2(PRRT2):c.612C>G (p.Pro204=) http://identifiers.org/clinvar/138815 ^@ NM_145239.2(PRRT2):c.751C>T (p.Leu251=) http://identifiers.org/clinvar/138816 ^@ NM_145239.2(PRRT2):c.880-14C>T http://identifiers.org/clinvar/138817 ^@ NM_181882.2(PRX):c.731C>T (p.Ala244Val) http://identifiers.org/clinvar/138818 ^@ NM_003978.4(PSTPIP1):c.204G>A (p.Thr68=) http://identifiers.org/clinvar/138819 ^@ NM_003978.4(PSTPIP1):c.212+12C>T http://identifiers.org/clinvar/138820 ^@ NM_003978.4(PSTPIP1):c.247+20G>A http://identifiers.org/clinvar/138821 ^@ NM_003978.4(PSTPIP1):c.354+10G>A http://identifiers.org/clinvar/138822 ^@ NM_003978.4(PSTPIP1):c.354+20C>T http://identifiers.org/clinvar/138823 ^@ NM_003978.4(PSTPIP1):c.563-8G>A http://identifiers.org/clinvar/138824 ^@ NM_003978.4(PSTPIP1):c.642+16G>A http://identifiers.org/clinvar/138825 ^@ NM_003978.4(PSTPIP1):c.747C>T (p.Tyr249=) http://identifiers.org/clinvar/138826 ^@ NM_003978.4(PSTPIP1):c.786C>T (p.Asp262=) http://identifiers.org/clinvar/138827 ^@ NM_003978.4(PSTPIP1):c.837C>T (p.Pro279=) http://identifiers.org/clinvar/138828 ^@ NM_003978.4(PSTPIP1):c.908C>T (p.Pro303Leu) http://identifiers.org/clinvar/138829 ^@ NM_003978.4(PSTPIP1):c.929+17C>T http://identifiers.org/clinvar/138830 ^@ NM_003978.4(PSTPIP1):c.985+6G>C http://identifiers.org/clinvar/138831 ^@ NM_003978.4(PSTPIP1):c.1116G>A (p.Ala372=) http://identifiers.org/clinvar/138832 ^@ NM_003978.4(PSTPIP1):c.1182T>C (p.Asp394=) http://identifiers.org/clinvar/138833 ^@ NM_003978.4(PSTPIP1):c.1206C>T (p.Asn402=) http://identifiers.org/clinvar/138834 ^@ NM_000264.3(PTCH1):c.1665T>C (p.Asn555=) http://identifiers.org/clinvar/138835 ^@ NM_000314.6(PTEN):c.1104T>C (p.Asp368=) http://identifiers.org/clinvar/138836 ^@ NM_000314.6(PTEN):c.-1026C>A http://identifiers.org/clinvar/138837 ^@ NM_000314.6(PTEN):c.-903G>A http://identifiers.org/clinvar/138838 ^@ NM_000314.6(PTEN):c.802-12T>C http://identifiers.org/clinvar/138839 ^@ NM_002834.4(PTPN11):c.1379+20C>T http://identifiers.org/clinvar/138840 ^@ NM_002834.4(PTPN11):c.1404G>C (p.Thr468=) http://identifiers.org/clinvar/138841 ^@ NM_002834.4(PTPN11):c.-45T>G http://identifiers.org/clinvar/138842 ^@ NM_002834.4(PTPN11):c.1620C>T (p.His540=) http://identifiers.org/clinvar/138843 ^@ NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) http://identifiers.org/clinvar/138844 ^@ NM_002834.3(PTPN11):c.*13A>G http://identifiers.org/clinvar/138845 ^@ NM_002834.4(PTPN11):c.*50C>T http://identifiers.org/clinvar/138846 ^@ NM_002838.4(PTPRC):c.3402C>T (p.Pro1134=) http://identifiers.org/clinvar/138847 ^@ NM_002838.4(PTPRC):c.367G>C (p.Asp123His) http://identifiers.org/clinvar/138848 ^@ NM_002838.4(PTPRC):c.886A>C (p.Ile296Leu) http://identifiers.org/clinvar/138849 ^@ NM_002838.4(PTPRC):c.1029G>A (p.Gln343=) http://identifiers.org/clinvar/138850 ^@ NM_002838.4(PTPRC):c.1710T>A (p.His570Gln) http://identifiers.org/clinvar/138851 ^@ NM_002838.4(PTPRC):c.1829+14T>A http://identifiers.org/clinvar/138852 ^@ NM_025215.5(PUS1):c.456C>G (p.Ala152=) http://identifiers.org/clinvar/138853 ^@ NM_025215.5(PUS1):c.999G>C (p.Leu333=) http://identifiers.org/clinvar/138854 ^@ NM_025215.5(PUS1):c.1197C>T (p.Phe399=) http://identifiers.org/clinvar/138855 ^@ NM_025215.5(PUS1):c.1221T>G (p.Gly407=) http://identifiers.org/clinvar/138857 ^@ NM_025215.5(PUS1):c.345C>T (p.Asp115=) http://identifiers.org/clinvar/138858 ^@ NM_025215.5(PUS1):c.364C>A (p.Arg122=) http://identifiers.org/clinvar/138859 ^@ NM_025215.5(PUS1):c.397G>A (p.Asp133Asn) http://identifiers.org/clinvar/138860 ^@ NM_012233.2(RAB3GAP1):c.2290-17C>T http://identifiers.org/clinvar/138861 ^@ NM_012414.3(RAB3GAP2):c.1041-18A>C http://identifiers.org/clinvar/138862 ^@ NM_004637.5(RAB7A):c.-29G>T http://identifiers.org/clinvar/138863 ^@ NM_004637.5(RAB7A):c.219C>T (p.Leu73=) http://identifiers.org/clinvar/138864 ^@ NM_002872.4(RAC2):c.477T>C (p.Ala159=) http://identifiers.org/clinvar/138865 ^@ NM_002872.4(RAC2):c.81C>G (p.Ala27=) http://identifiers.org/clinvar/138866 ^@ NM_002872.4(RAC2):c.107+20T>C http://identifiers.org/clinvar/138867 ^@ NM_058216.2(RAD51C):c.572-17G>T http://identifiers.org/clinvar/138868 ^@ NM_058216.2(RAD51C):c.837+13T>C http://identifiers.org/clinvar/138869 ^@ NM_058216.2(RAD51C):c.186A>G (p.Gln62=) http://identifiers.org/clinvar/138870 ^@ NM_058216.2(RAD51C):c.145+12T>G http://identifiers.org/clinvar/138871 ^@ NM_002878.3(RAD51D):c.481-7G>A http://identifiers.org/clinvar/138872 ^@ NM_002878.3(RAD51D):c.695G>A (p.Arg232Gln) http://identifiers.org/clinvar/138873 ^@ NM_002878.3(RAD51D):c.698A>G (p.Glu233Gly) http://identifiers.org/clinvar/138874 ^@ NM_002878.3(RAD51D):c.216C>T (p.Tyr72=) http://identifiers.org/clinvar/138875 ^@ NM_002878.3(RAD51D):c.771C>T (p.Ser257=) http://identifiers.org/clinvar/138876 ^@ NM_002878.3(RAD51D):c.873C>T (p.Arg291=) http://identifiers.org/clinvar/138877 ^@ NM_002878.3(RAD51D):c.904-3C>T http://identifiers.org/clinvar/138878 ^@ NM_002878.3(RAD51D):c.263+1570T>A http://identifiers.org/clinvar/138879 ^@ NM_002878.3(RAD51D):c.263+1588A>G http://identifiers.org/clinvar/138880 ^@ NM_002878.3(RAD51D):c.263+1605G>A http://identifiers.org/clinvar/138881 ^@ NM_002880.3(RAF1):c.1668+19G>T http://identifiers.org/clinvar/138882 ^@ NM_000448.2(RAG1):c.303G>A (p.Ala101=) http://identifiers.org/clinvar/138883 ^@ NM_000448.2(RAG1):c.746G>A (p.Arg249His) http://identifiers.org/clinvar/138884 ^@ NM_000448.2(RAG1):c.2638G>A (p.Glu880Lys) http://identifiers.org/clinvar/138885 ^@ NM_000536.3(RAG2):c.22G>A (p.Val8Ile) http://identifiers.org/clinvar/138886 ^@ NM_000536.3(RAG2):c.741G>A (p.Val247=) http://identifiers.org/clinvar/138887 ^@ NM_000536.3(RAG2):c.1158C>A (p.Phe386Leu) http://identifiers.org/clinvar/138888 ^@ NM_016492.4(RANGRF):c.437+16C>T http://identifiers.org/clinvar/138889 ^@ NM_016492.4(RANGRF):c.510G>A (p.Gln170=) http://identifiers.org/clinvar/138890 ^@ NM_020320.4(RARS2):c.111-20G>A http://identifiers.org/clinvar/138891 ^@ NM_020320.4(RARS2):c.456T>C (p.Asn152=) http://identifiers.org/clinvar/138892 ^@ NM_020320.4(RARS2):c.-34T>G http://identifiers.org/clinvar/138893 ^@ NM_020320.4(RARS2):c.-8A>C http://identifiers.org/clinvar/138894 ^@ NM_020320.4(RARS2):c.878+17A>G http://identifiers.org/clinvar/138895 ^@ NM_020320.4(RARS2):c.878+19T>G http://identifiers.org/clinvar/138896 ^@ NM_020320.4(RARS2):c.888G>C (p.Thr296=) http://identifiers.org/clinvar/138897 ^@ NM_020320.4(RARS2):c.975-14C>T http://identifiers.org/clinvar/138898 ^@ NM_020320.4(RARS2):c.1410C>A (p.Leu470=) http://identifiers.org/clinvar/138899 ^@ NM_001134363.2(RBM20):c.255A>C (p.Ser85=) http://identifiers.org/clinvar/138900 ^@ NM_001134363.2(RBM20):c.1986G>A (p.Pro662=) http://identifiers.org/clinvar/138901 ^@ NM_001134363.2(RBM20):c.2303C= (p.Ser768=) http://identifiers.org/clinvar/138902 ^@ NM_001134363.2(RBM20):c.2763C>T (p.Ile921=) http://identifiers.org/clinvar/138903 ^@ NM_001134363.2(RBM20):c.2904C>T (p.Ala968=) http://identifiers.org/clinvar/138904 ^@ NM_000322.4(PRPH2):c.910C>G (p.Gln304Glu) http://identifiers.org/clinvar/138905 ^@ NM_000322.4(PRPH2):c.929G>A (p.Arg310Lys) http://identifiers.org/clinvar/138906 ^@ NM_000322.4(PRPH2):c.1013A>G (p.Asp338Gly) http://identifiers.org/clinvar/138907 ^@ NM_000322.4:c.+13C>T http://identifiers.org/clinvar/138908 ^@ NM_000322.4(PRPH2):c.-11A>C http://identifiers.org/clinvar/138909 ^@ NM_022912.2(REEP1):c.596-19T>G http://identifiers.org/clinvar/138910 ^@ NM_005045.3(RELN):c.4588+14T>C http://identifiers.org/clinvar/138911 ^@ NM_005045.3(RELN):c.6072+17T>A http://identifiers.org/clinvar/138912 ^@ NM_017909.3(RMND1):c.689+17A>G http://identifiers.org/clinvar/138913 ^@ NM_017909.3(RMND1):c.783C>T (p.Ile261=) http://identifiers.org/clinvar/138914 ^@ NM_017909.3(RMND1):c.858A>T (p.Glu286Asp) http://identifiers.org/clinvar/138915 ^@ NM_017909.3(RMND1):c.1349G>A (p.Ter450=) http://identifiers.org/clinvar/138916 ^@ NM_017909.3(RMND1):c.-28C>T http://identifiers.org/clinvar/138917 ^@ NM_017909.3(RMND1):c.125G>T (p.Ser42Ile) http://identifiers.org/clinvar/138918 ^@ NM_017909.3(RMND1):c.395C>T (p.Thr132Met) http://identifiers.org/clinvar/138919 ^@ NM_017909.3(RMND1):c.447A>G (p.Lys149=) http://identifiers.org/clinvar/138922 ^@ NR_003051.3(RMRP):n.-47C>A http://identifiers.org/clinvar/138923 ^@ NR_003051.3(RMRP):n.157G>C http://identifiers.org/clinvar/138924 ^@ NR_003051.3(RMRP):n.178C>T http://identifiers.org/clinvar/138926 ^@ NM_000975.3(RPL11):c.-37C>G http://identifiers.org/clinvar/138927 ^@ NM_001022.3(RPS19):c.356+14G>A http://identifiers.org/clinvar/138928 ^@ NM_015713.4(RRM2B):c.48+265C>G http://identifiers.org/clinvar/138929 ^@ NM_015713.4(RRM2B):c.207C>T (p.Val69=) http://identifiers.org/clinvar/138930 ^@ NM_015713.4(RRM2B):c.790-8C>A http://identifiers.org/clinvar/138931 ^@ NM_015713.4(RRM2B):c.48+21T>G http://identifiers.org/clinvar/138932 ^@ NM_015713.4(RRM2B):c.48+64G>A http://identifiers.org/clinvar/138933 ^@ NM_015713.4(RRM2B):c.48+96G>C http://identifiers.org/clinvar/138934 ^@ NM_001035.2(RYR2):c.309+7C>T http://identifiers.org/clinvar/138935 ^@ NM_001035.2(RYR2):c.726C>T (p.Asp242=) http://identifiers.org/clinvar/138936 ^@ NM_001035.2(RYR2):c.1053A>G (p.Thr351=) http://identifiers.org/clinvar/138937 ^@ NM_001035.2(RYR2):c.1218G>A (p.Ser406=) http://identifiers.org/clinvar/138938 ^@ NM_001035.2(RYR2):c.1292+20C>T http://identifiers.org/clinvar/138939 ^@ NM_001035.2(RYR2):c.1296C>A (p.Gly432=) http://identifiers.org/clinvar/138940 ^@ NM_001035.2(RYR2):c.2589A>T (p.Thr863=) http://identifiers.org/clinvar/138941 ^@ NM_001035.2(RYR2):c.2613+16C>T http://identifiers.org/clinvar/138942 ^@ NM_001035.2(RYR2):c.3372G>A (p.Pro1124=) http://identifiers.org/clinvar/138943 ^@ NM_001035.2(RYR2):c.3888C>T (p.Asn1296=) http://identifiers.org/clinvar/138944 ^@ NM_001035.2(RYR2):c.4160+16G>A http://identifiers.org/clinvar/138945 ^@ NM_001035.2(RYR2):c.5571G>A (p.Pro1857=) http://identifiers.org/clinvar/138946 ^@ NM_001035.2(RYR2):c.5613C>T (p.Asp1871=) http://identifiers.org/clinvar/138947 ^@ NM_001035.2(RYR2):c.6440+20C>T http://identifiers.org/clinvar/138948 ^@ NM_001035.2(RYR2):c.6441-19C>T http://identifiers.org/clinvar/138949 ^@ NM_001035.2(RYR2):c.7161G>A (p.Ala2387=) http://identifiers.org/clinvar/138950 ^@ NM_001035.2(RYR2):c.7343-9C>T http://identifiers.org/clinvar/138951 ^@ NM_001035.2(RYR2):c.9672C>T (p.Ser3224=) http://identifiers.org/clinvar/138952 ^@ NM_001035.2(RYR2):c.10017C>T (p.His3339=) http://identifiers.org/clinvar/138953 ^@ NM_001035.2(RYR2):c.10221G>A (p.Ser3407=) http://identifiers.org/clinvar/138954 ^@ NM_001035.2(RYR2):c.10231-5C>T http://identifiers.org/clinvar/138955 ^@ NM_001035.2(RYR2):c.11634A>G (p.Leu3878=) http://identifiers.org/clinvar/138956 ^@ NM_001035.2(RYR2):c.11880+16G>A http://identifiers.org/clinvar/138957 ^@ NM_001035.2(RYR2):c.14809-20C>T http://identifiers.org/clinvar/138958 ^@ NM_017827.3(SARS2):c.590-5T>A http://identifiers.org/clinvar/138959 ^@ NM_017827.3(SARS2):c.273G>A (p.Ser91=) http://identifiers.org/clinvar/138960 ^@ NM_017827.3(SARS2):c.103A>G (p.Thr35Ala) http://identifiers.org/clinvar/138961 ^@ NM_017827.3(SARS2):c.248C>T (p.Ser83Leu) http://identifiers.org/clinvar/138962 ^@ NM_017827.3(SARS2):c.531C>T (p.Asp177=) http://identifiers.org/clinvar/138963 ^@ NM_030962.3(SBF2):c.909C>T (p.Pro303=) http://identifiers.org/clinvar/138964 ^@ NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) http://identifiers.org/clinvar/138965 ^@ NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) http://identifiers.org/clinvar/138966 ^@ NM_030962.3(SBF2):c.4933-15T>C http://identifiers.org/clinvar/138967 ^@ NM_005506.3(SCARB2):c.362G>A (p.Arg121Gln) http://identifiers.org/clinvar/138968 ^@ NM_005506.3(SCARB2):c.1113+14T>A http://identifiers.org/clinvar/138969 ^@ NM_005506.3(SCARB2):c.1239+14C>T http://identifiers.org/clinvar/138970 ^@ NM_005506.3(SCARB2):c.48G>C (p.Leu16=) http://identifiers.org/clinvar/138971 ^@ NM_001165963.1(SCN1A):c.333A>G (p.Leu111=) http://identifiers.org/clinvar/138972 ^@ NM_001165963.1(SCN1A):c.1377+10C>T http://identifiers.org/clinvar/138973 ^@ NM_001165963.1(SCN1A):c.1378-3T>C http://identifiers.org/clinvar/138974 ^@ NM_001165963.1(SCN1A):c.1539A>G (p.Glu513=) http://identifiers.org/clinvar/138975 ^@ NM_001165963.1(SCN1A):c.2292T>A (p.Val764=) http://identifiers.org/clinvar/138976 ^@ NM_001165963.1(SCN1A):c.3330T>C (p.Ser1110=) http://identifiers.org/clinvar/138977 ^@ NM_001165963.1(SCN1A):c.3498G>A (p.Gln1166=) http://identifiers.org/clinvar/138978 ^@ NM_001165963.1(SCN1A):c.3550+11G>T http://identifiers.org/clinvar/138979 ^@ NM_001165963.1(SCN1A):c.3886T>C (p.Leu1296=) http://identifiers.org/clinvar/138980 ^@ NM_001165963.1(SCN1A):c.3948G>A (p.Arg1316=) http://identifiers.org/clinvar/138981 ^@ NM_001165963.1(SCN1A):c.4386C>T (p.Tyr1462=) http://identifiers.org/clinvar/138982 ^@ NM_001165963.1(SCN1A):c.4393A>G (p.Ile1465Val) http://identifiers.org/clinvar/138983 ^@ NM_001165963.1(SCN1A):c.4506A>G (p.Glu1502=) http://identifiers.org/clinvar/138984 ^@ NM_001165963.1(SCN1A):c.4548G>A (p.Ser1516=) http://identifiers.org/clinvar/138985 ^@ NM_001165963.1(SCN1A):c.4557G>A (p.Pro1519=) http://identifiers.org/clinvar/138986 ^@ NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) http://identifiers.org/clinvar/138987 ^@ NM_001165963.1(SCN1A):c.5356C>T (p.Leu1786=) http://identifiers.org/clinvar/138988 ^@ NM_001165963.1(SCN1A):c.5766T>C (p.Ile1922=) http://identifiers.org/clinvar/138989 ^@ NM_001037.4(SCN1B):c.207+7G>A http://identifiers.org/clinvar/138990 ^@ NM_001037.4(SCN1B):c.207+14G>A http://identifiers.org/clinvar/138991 ^@ NM_001037.4(SCN1B):c.208-14C>T http://identifiers.org/clinvar/138992 ^@ NM_001037.4(SCN1B):c.267C>T (p.Arg89=) http://identifiers.org/clinvar/138993 ^@ NM_001037.4(SCN1B):c.300C>T (p.Asp100=) http://identifiers.org/clinvar/138994 ^@ NM_001037.4(SCN1B):c.348G>A (p.Ser116=) http://identifiers.org/clinvar/138995 ^@ NM_001037.4(SCN1B):c.351C>T (p.Gly117=) http://identifiers.org/clinvar/138996 ^@ NM_001037.4(SCN1B):c.448+8G>C http://identifiers.org/clinvar/138997 ^@ NM_001037.4(SCN1B):c.448+29C>T http://identifiers.org/clinvar/138998 ^@ NM_001037.4(SCN1B):c.448+181T>C http://identifiers.org/clinvar/138999 ^@ NM_001037.4(SCN1B):c.448+296C>A http://identifiers.org/clinvar/139000 ^@ NM_001037.4(SCN1B):c.448+301G>A http://identifiers.org/clinvar/139001 ^@ NM_001037.4(SCN1B):c.-40C>G http://identifiers.org/clinvar/139002 ^@ NM_001037.4(SCN1B):c.-9C>A http://identifiers.org/clinvar/139003 ^@ NM_001037.4(SCN1B):c.40+6T>C http://identifiers.org/clinvar/139004 ^@ NM_001037.4(SCN1B):c.561C>T (p.Ala187=) http://identifiers.org/clinvar/139005 ^@ NM_001037.4(SCN1B):c.588T>C (p.Asn196=) http://identifiers.org/clinvar/139006 ^@ NM_001037.4(SCN1B):c.590+16G>A http://identifiers.org/clinvar/139007 ^@ NM_021007.2(SCN2A):c.2389-18A>C http://identifiers.org/clinvar/139008 ^@ NM_021007.2(SCN2A):c.2859C>T (p.Val953=) http://identifiers.org/clinvar/139009 ^@ NM_021007.2(SCN2A):c.2955C>T (p.Ser985=) http://identifiers.org/clinvar/139010 ^@ NM_021007.2(SCN2A):c.3213A>C (p.Gly1071=) http://identifiers.org/clinvar/139011 ^@ NM_021007.2(SCN2A):c.3453C>T (p.Pro1151=) http://identifiers.org/clinvar/139012 ^@ NM_021007.2(SCN2A):c.3579C>A (p.Leu1193=) http://identifiers.org/clinvar/139013 ^@ NM_021007.2(SCN2A):c.3594G>A (p.Arg1198=) http://identifiers.org/clinvar/139014 ^@ NM_021007.2(SCN2A):c.3675+19A>G http://identifiers.org/clinvar/139015 ^@ NM_021007.2(SCN2A):c.3954C>A (p.Ser1318=) http://identifiers.org/clinvar/139016 ^@ NM_021007.2(SCN2A):c.4257C>T (p.Ala1419=) http://identifiers.org/clinvar/139017 ^@ NM_021007.2(SCN2A):c.4287T>C (p.Tyr1429=) http://identifiers.org/clinvar/139018 ^@ NM_021007.2(SCN2A):c.5229A>G (p.Lys1743=) http://identifiers.org/clinvar/139019 ^@ NM_021007.2(SCN2A):c.5326C>T (p.Leu1776=) http://identifiers.org/clinvar/139020 ^@ NM_021007.2(SCN2A):c.5388G>A (p.Glu1796=) http://identifiers.org/clinvar/139021 ^@ NM_021007.2(SCN2A):c.5757C>T (p.Tyr1919=) http://identifiers.org/clinvar/139022 ^@ NM_021007.2(SCN2A):c.24G>A (p.Pro8=) http://identifiers.org/clinvar/139023 ^@ NM_021007.2(SCN2A):c.386+17C>T http://identifiers.org/clinvar/139024 ^@ NM_021007.2(SCN2A):c.897A>G (p.Ser299=) http://identifiers.org/clinvar/139025 ^@ NM_021007.2(SCN2A):c.1137T>C (p.Arg379=) http://identifiers.org/clinvar/139026 ^@ NM_021007.2(SCN2A):c.1219C>T (p.Leu407=) http://identifiers.org/clinvar/139027 ^@ NM_021007.2(SCN2A):c.1416A>G (p.Arg472=) http://identifiers.org/clinvar/139028 ^@ NM_021007.2(SCN2A):c.1536A>G (p.Glu512=) http://identifiers.org/clinvar/139029 ^@ NM_021007.2(SCN2A):c.1959G>A (p.Val653=) http://identifiers.org/clinvar/139030 ^@ NM_021007.2(SCN2A):c.1971C>T (p.Val657=) http://identifiers.org/clinvar/139031 ^@ NM_021007.2(SCN2A):c.2019C>G (p.Gly673=) http://identifiers.org/clinvar/139032 ^@ NM_021007.2(SCN2A):c.2034A>G (p.Thr678=) http://identifiers.org/clinvar/139033 ^@ NM_018400.3(SCN3B):c.390G>A (p.Ala130=) http://identifiers.org/clinvar/139034 ^@ NM_018400.3(SCN3B):c.438C>A (p.Thr146=) http://identifiers.org/clinvar/139035 ^@ NM_018400.3(SCN3B):c.*22+16A>C http://identifiers.org/clinvar/139036 ^@ NM_174934.3(SCN4B):c.639C>T (p.Asn213=) http://identifiers.org/clinvar/139037 ^@ NM_174934.3(SCN4B):c.174C>T (p.Cys58=) http://identifiers.org/clinvar/139038 ^@ NM_198056.2(SCN5A):c.21T>A (p.Pro7=) http://identifiers.org/clinvar/139039 ^@ NM_198056.2(SCN5A):c.360C>T (p.Ile120=) http://identifiers.org/clinvar/139040 ^@ NM_198056.2(SCN5A):c.435C>T (p.Cys145=) http://identifiers.org/clinvar/139041 ^@ NM_198056.2(SCN5A):c.795C>T (p.Ala265=) http://identifiers.org/clinvar/139042 ^@ NM_198056.2(SCN5A):c.885G>A (p.Glu295=) http://identifiers.org/clinvar/139043 ^@ NM_198056.2(SCN5A):c.1008G>A (p.Pro336=) http://identifiers.org/clinvar/139044 ^@ NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) http://identifiers.org/clinvar/139045 ^@ NM_198056.2(SCN5A):c.1050C>T (p.His350=) http://identifiers.org/clinvar/139046 ^@ NM_198056.2(SCN5A):c.1065C>T (p.Phe355=) http://identifiers.org/clinvar/139047 ^@ NM_198056.2(SCN5A):c.1152C>T (p.Ser384=) http://identifiers.org/clinvar/139048 ^@ NM_198056.2(SCN5A):c.1236C>T (p.Val412=) http://identifiers.org/clinvar/139049 ^@ NM_198056.2(SCN5A):c.1281C>T (p.Thr427=) http://identifiers.org/clinvar/139050 ^@ NM_198056.2(SCN5A):c.1479G>A (p.Arg493=) http://identifiers.org/clinvar/139051 ^@ NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) http://identifiers.org/clinvar/139052 ^@ NM_198056.2(SCN5A):c.1755C>T (p.His585=) http://identifiers.org/clinvar/139053 ^@ NM_198056.2(SCN5A):c.2001C>T (p.Ser667=) http://identifiers.org/clinvar/139054 ^@ NM_198056.2(SCN5A):c.2437-5C>A http://identifiers.org/clinvar/139056 ^@ NM_198056.2(SCN5A):c.2787+17C>A http://identifiers.org/clinvar/139057 ^@ NM_198056.2(SCN5A):c.3511+12G>A http://identifiers.org/clinvar/139058 ^@ NM_198056.2(SCN5A):c.3621C>T (p.Phe1207=) http://identifiers.org/clinvar/139059 ^@ NM_198056.2(SCN5A):c.3667-7T>A http://identifiers.org/clinvar/139060 ^@ NM_198056.2(SCN5A):c.3810C>T (p.Ala1270=) http://identifiers.org/clinvar/139061 ^@ NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) http://identifiers.org/clinvar/139062 ^@ NM_198056.2(SCN5A):c.4056C>T (p.Gly1352=) http://identifiers.org/clinvar/139063 ^@ NM_198056.2(SCN5A):c.4302T>C (p.Tyr1434=) http://identifiers.org/clinvar/139064 ^@ NM_198056.2(SCN5A):c.4890A>T (p.Ile1630=) http://identifiers.org/clinvar/139065 ^@ NM_198056.2(SCN5A):c.5304T>C (p.Ile1768=) http://identifiers.org/clinvar/139066 ^@ NM_198056.2(SCN5A):c.5367C>T (p.Asp1789=) http://identifiers.org/clinvar/139067 ^@ NM_198056.2(SCN5A):c.5796G>A (p.Ala1932=) http://identifiers.org/clinvar/139068 ^@ NM_014191.3(SCN8A):c.928+9C>T http://identifiers.org/clinvar/139069 ^@ NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) http://identifiers.org/clinvar/139070 ^@ NM_014191.3(SCN8A):c.2371-6A>G http://identifiers.org/clinvar/139071 ^@ NM_014191.3(SCN8A):c.2632C>T (p.Leu878=) http://identifiers.org/clinvar/139072 ^@ NM_014191.3(SCN8A):c.3822C>T (p.Val1274=) http://identifiers.org/clinvar/139073 ^@ NM_014191.3(SCN8A):c.4281+13A>G http://identifiers.org/clinvar/139074 ^@ NM_014191.3(SCN8A):c.4795+11T>C http://identifiers.org/clinvar/139075 ^@ NM_014191.3(SCN8A):c.141C>T (p.Asp47=) http://identifiers.org/clinvar/139076 ^@ NM_002977.3(SCN9A):c.688+13T>C http://identifiers.org/clinvar/139077 ^@ NM_004589.3(SCO1):c.297A>G (p.Ala99=) http://identifiers.org/clinvar/139078 ^@ NM_004589.3(SCO1):c.16C>G (p.Leu6Val) http://identifiers.org/clinvar/139079 ^@ NM_004589.3(SCO1):c.594A>G (p.Pro198=) http://identifiers.org/clinvar/139080 ^@ NM_004589.3(SCO1):c.172C>T (p.Pro58Ser) http://identifiers.org/clinvar/139081 ^@ NM_005138.2(SCO2):c.-18G>A http://identifiers.org/clinvar/139082 ^@ NM_005138.2(SCO2):c.59G>C (p.Arg20Pro) http://identifiers.org/clinvar/139083 ^@ NM_005138.2(SCO2):c.201C>T (p.Phe67=) http://identifiers.org/clinvar/139084 ^@ NM_005138.2(SCO2):c.327C>T (p.His109=) http://identifiers.org/clinvar/139085 ^@ NM_005138.2(SCO2):c.582C>T (p.Ser194=) http://identifiers.org/clinvar/139086 ^@ NM_005138.2(SCO2):c.633A>C (p.Ala211=) http://identifiers.org/clinvar/139087 ^@ NM_005138.2(SCO2):c.763C>A (p.Arg255=) http://identifiers.org/clinvar/139088 ^@ NM_005138.2(SCO2):c.776C>T (p.Ala259Val) http://identifiers.org/clinvar/139089 ^@ NM_001042631.2(SDHAF1):c.333C>G (p.Arg111=) http://identifiers.org/clinvar/139090 ^@ NM_001042631.2(SDHAF1):c.334C>T (p.Pro112Ser) http://identifiers.org/clinvar/139091 ^@ NM_032861.3(SERAC1):c.89T>C (p.Ile30Thr) http://identifiers.org/clinvar/139092 ^@ NM_032861.3(SERAC1):c.139T>A (p.Phe47Ile) http://identifiers.org/clinvar/139093 ^@ NM_032861.3(SERAC1):c.249C>T (p.Asp83=) http://identifiers.org/clinvar/139094 ^@ NM_032861.3(SERAC1):c.355+11A>G http://identifiers.org/clinvar/139095 ^@ NM_032861.3(SERAC1):c.739-10T>G http://identifiers.org/clinvar/139096 ^@ NM_032861.3(SERAC1):c.1016-11C>T http://identifiers.org/clinvar/139097 ^@ NM_032861.3(SERAC1):c.1293G>A (p.Thr431=) http://identifiers.org/clinvar/139098 ^@ NM_032861.3(SERAC1):c.1403+12G>A http://identifiers.org/clinvar/139099 ^@ NM_000337.5(SGCD):c.144G>C (p.Val48=) http://identifiers.org/clinvar/139100 ^@ NM_000337.5(SGCD):c.3+20G>A http://identifiers.org/clinvar/139101 ^@ NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) http://identifiers.org/clinvar/139102 ^@ NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) http://identifiers.org/clinvar/139103 ^@ NM_007373.3(SHOC2):c.-228T>G http://identifiers.org/clinvar/139104 ^@ NM_007373.3(SHOC2):c.457C>T (p.Leu153=) http://identifiers.org/clinvar/139105 ^@ NM_007373.3(SHOC2):c.-244G>T http://identifiers.org/clinvar/139106 ^@ NM_007373.3(SHOC2):c.704-16G>T http://identifiers.org/clinvar/139107 ^@ NM_007373.3(SHOC2):c.841+12G>A http://identifiers.org/clinvar/139108 ^@ NM_007373.3(SHOC2):c.1302C>T (p.Asn434=) http://identifiers.org/clinvar/139109 ^@ NM_007373.3(SHOC2):c.1423-7C>T http://identifiers.org/clinvar/139110 ^@ NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) http://identifiers.org/clinvar/139111 ^@ NM_003036.3(SKI):c.456C>T (p.Arg152=) http://identifiers.org/clinvar/139112 ^@ NM_003036.3(SKI):c.99C>G (p.Gly33=) http://identifiers.org/clinvar/139113 ^@ NM_003036.3(SKI):c.185C>G (p.Ala62Gly) http://identifiers.org/clinvar/139114 ^@ NM_003036.3(SKI):c.1311C>T (p.Ala437=) http://identifiers.org/clinvar/139115 ^@ NM_003036.3(SKI):c.1446G>A (p.Ala482=) http://identifiers.org/clinvar/139116 ^@ NM_003036.3(SKI):c.1834C>T (p.Leu612=) http://identifiers.org/clinvar/139117 ^@ NM_003036.3(SKI):c.1974C>T (p.Arg658=) http://identifiers.org/clinvar/139118 ^@ NM_133647.1(SLC12A6):c.963C>T (p.Tyr321=) http://identifiers.org/clinvar/139119 ^@ NM_133647.1(SLC12A6):c.1236G>A (p.Ser412=) http://identifiers.org/clinvar/139120 ^@ NM_133647.1(SLC12A6):c.1333+20G>T http://identifiers.org/clinvar/139121 ^@ NM_133647.1(SLC12A6):c.1551G>C (p.Pro517=) http://identifiers.org/clinvar/139122 ^@ NM_025243.3(SLC19A3):c.-2-10A>G http://identifiers.org/clinvar/139123 ^@ NM_025243.3(SLC19A3):c.421G>A (p.Gly141Ser) http://identifiers.org/clinvar/139124 ^@ NM_025243.3(SLC19A3):c.756G>A (p.Leu252=) http://identifiers.org/clinvar/139125 ^@ NM_014252.3(SLC25A15):c.117G>A (p.Thr39=) http://identifiers.org/clinvar/139126 ^@ NM_014252.3(SLC25A15):c.333C>T (p.Ala111=) http://identifiers.org/clinvar/139127 ^@ NM_014252.3(SLC25A15):c.760A>T (p.Ile254Leu) http://identifiers.org/clinvar/139128 ^@ NM_024698.5(SLC25A22):c.-171C>T http://identifiers.org/clinvar/139129 ^@ NM_024698.5(SLC25A22):c.-151G>A http://identifiers.org/clinvar/139130 ^@ NM_024698.5(SLC25A22):c.132C>T (p.Arg44=) http://identifiers.org/clinvar/139131 ^@ NM_024698.5(SLC25A22):c.151G>A (p.Asp51Asn) http://identifiers.org/clinvar/139132 ^@ NM_024698.5(SLC25A22):c.202+14C>T http://identifiers.org/clinvar/139133 ^@ NM_024698.5(SLC25A22):c.294-13G>A http://identifiers.org/clinvar/139134 ^@ NM_024698.5(SLC25A22):c.327G>A (p.Ala109=) http://identifiers.org/clinvar/139135 ^@ NM_024698.5(SLC25A22):c.413-12C>T http://identifiers.org/clinvar/139136 ^@ NM_024698.5(SLC25A22):c.413-8G>C http://identifiers.org/clinvar/139137 ^@ NM_024698.5(SLC25A22):c.448C>G (p.Leu150Val) http://identifiers.org/clinvar/139138 ^@ NM_024698.5(SLC25A22):c.495C>T (p.Ala165=) http://identifiers.org/clinvar/139139 ^@ NM_024698.5(SLC25A22):c.570C>T (p.Leu190=) http://identifiers.org/clinvar/139140 ^@ NM_024698.5(SLC25A22):c.585C>T (p.Leu195=) http://identifiers.org/clinvar/139141 ^@ NM_024698.5(SLC25A22):c.618G>A (p.Pro206=) http://identifiers.org/clinvar/139142 ^@ NM_024698.5(SLC25A22):c.705T>C (p.Ala235=) http://identifiers.org/clinvar/139143 ^@ NM_024698.5(SLC25A22):c.742+19G>A http://identifiers.org/clinvar/139144 ^@ NM_024698.5(SLC25A22):c.743-12C>T http://identifiers.org/clinvar/139145 ^@ NM_024698.5(SLC25A22):c.876G>A (p.Ala292=) http://identifiers.org/clinvar/139146 ^@ NM_024698.5(SLC25A22):c.933G>A (p.Ala311=) http://identifiers.org/clinvar/139147 ^@ NM_024698.5(SLC25A22):c.*17A>C http://identifiers.org/clinvar/139148 ^@ NM_005888.3(SLC25A3):c.439T>C (p.Leu147=) http://identifiers.org/clinvar/139149 ^@ NM_005888.3(SLC25A3):c.598T>C (p.Leu200=) http://identifiers.org/clinvar/139150 ^@ NM_005888.3(SLC25A3):c.-38C>G http://identifiers.org/clinvar/139151 ^@ NM_005888.3(SLC25A3):c.928+4G>A http://identifiers.org/clinvar/139152 ^@ NM_001151.3(SLC25A4):c.681G>A (p.Val227=) http://identifiers.org/clinvar/139153 ^@ NM_001151.3(SLC25A4):c.-25G>A http://identifiers.org/clinvar/139154 ^@ NM_006516.2(SLC2A1):c.18+12G>T http://identifiers.org/clinvar/139155 ^@ NM_006516.2(SLC2A1):c.27G>A (p.Thr9=) http://identifiers.org/clinvar/139156 ^@ NM_006516.2(SLC2A1):c.276-9C>T http://identifiers.org/clinvar/139157 ^@ NM_006516.2(SLC2A1):c.276-7T>C http://identifiers.org/clinvar/139158 ^@ NM_006516.2(SLC2A1):c.507C>T (p.Leu169=) http://identifiers.org/clinvar/139159 ^@ NM_006516.2(SLC2A1):c.543C>T (p.Gly181=) http://identifiers.org/clinvar/139160 ^@ NM_006516.2(SLC2A1):c.679+4C>T http://identifiers.org/clinvar/139161 ^@ NM_006516.2(SLC2A1):c.679+7G>T http://identifiers.org/clinvar/139162 ^@ NM_006516.2(SLC2A1):c.680-12C>T http://identifiers.org/clinvar/139163 ^@ NM_006516.2(SLC2A1):c.894C>T (p.Phe298=) http://identifiers.org/clinvar/139164 ^@ NM_006516.2(SLC2A1):c.973-17A>G http://identifiers.org/clinvar/139165 ^@ NM_006516.2(SLC2A1):c.1023C>T (p.Leu341=) http://identifiers.org/clinvar/139166 ^@ NM_006516.2(SLC2A1):c.1170C>T (p.Ile390=) http://identifiers.org/clinvar/139167 ^@ NM_006516.2(SLC2A1):c.1372C>A (p.Arg458=) http://identifiers.org/clinvar/139168 ^@ NM_006516.2(SLC2A1):c.1437C>T (p.Pro479=) http://identifiers.org/clinvar/139169 ^@ NM_030777.3(SLC2A10):c.237C>T (p.Leu79=) http://identifiers.org/clinvar/139170 ^@ NM_030777.3(SLC2A10):c.316G>T (p.Ala106Ser) http://identifiers.org/clinvar/139171 ^@ NM_030777.3(SLC2A10):c.366C>T (p.Tyr122=) http://identifiers.org/clinvar/139172 ^@ NM_030777.3(SLC2A10):c.616G>A (p.Ala206Thr) http://identifiers.org/clinvar/139173 ^@ NM_030777.3(SLC2A10):c.816C>G (p.Ala272=) http://identifiers.org/clinvar/139174 ^@ NM_030777.3(SLC2A10):c.1154C>G (p.Ala385Gly) http://identifiers.org/clinvar/139175 ^@ NM_030777.3(SLC2A10):c.1288+10G>A http://identifiers.org/clinvar/139176 ^@ NM_030777.3(SLC2A10):c.1512G>A (p.Ser504=) http://identifiers.org/clinvar/139177 ^@ NM_030777.3(SLC2A10):c.1541A>G (p.Lys514Arg) http://identifiers.org/clinvar/139178 ^@ NM_030777.3(SLC2A10):c.1547+18T>G http://identifiers.org/clinvar/139179 ^@ NM_030777.3(SLC2A10):c.1548-19C>T http://identifiers.org/clinvar/139180 ^@ NM_030777.3(SLC2A10):c.1548-18G>A http://identifiers.org/clinvar/139181 ^@ NM_030777.3(SLC2A10):c.1552A>G (p.Thr518Ala) http://identifiers.org/clinvar/139182 ^@ NM_030777.3(SLC2A10):c.1609A>G (p.Ile537Val) http://identifiers.org/clinvar/139183 ^@ NM_030777.3(SLC2A10):c.1617G>A (p.Ala539=) http://identifiers.org/clinvar/139184 ^@ NM_030777.3(SLC2A10):c.-27C>T http://identifiers.org/clinvar/139185 ^@ NM_030777.3(SLC2A10):c.-15C>T http://identifiers.org/clinvar/139186 ^@ NM_001164277.1(SLC37A4):c.149-14A>G http://identifiers.org/clinvar/139187 ^@ NM_001164277.1(SLC37A4):c.183T>C (p.Ala61=) http://identifiers.org/clinvar/139188 ^@ NM_001164277.1(SLC37A4):c.593A>T (p.Asn198Ile) http://identifiers.org/clinvar/139189 ^@ NM_001164278.1(SLC37A4):c.625+14C>T http://identifiers.org/clinvar/139190 ^@ NM_001164277.1(SLC37A4):c.625+19C>T http://identifiers.org/clinvar/139191 ^@ NM_001164277.1(SLC37A4):c.1062C>T (p.Asn354=) http://identifiers.org/clinvar/139192 ^@ NM_001164277.1(SLC37A4):c.1224G>A (p.Thr408=) http://identifiers.org/clinvar/139193 ^@ NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) http://identifiers.org/clinvar/139194 ^@ NM_001164277.1(SLC37A4):c.1278G>A (p.Lys426=) http://identifiers.org/clinvar/139195 ^@ NM_001164277.1(SLC37A4):c.-516G>A http://identifiers.org/clinvar/139196 ^@ NM_001126106.2(SLC7A7):c.660T>C (p.Gly220=) http://identifiers.org/clinvar/139197 ^@ NM_001126106.2(SLC7A7):c.1527A>G (p.Lys509=) http://identifiers.org/clinvar/139198 ^@ NM_001126106.2(SLC7A7):c.159G>A (p.Ser53=) http://identifiers.org/clinvar/139199 ^@ NM_001126106.2(SLC7A7):c.498T>C (p.Ile166=) http://identifiers.org/clinvar/139200 ^@ NM_006359.2(SLC9A6):c.534T>C (p.Ser178=) http://identifiers.org/clinvar/139201 ^@ NM_001042537.1(SLC9A6):c.900-6C>T http://identifiers.org/clinvar/139202 ^@ NM_006359.2(SLC9A6):c.861G>A (p.Ala287=) http://identifiers.org/clinvar/139203 ^@ NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) http://identifiers.org/clinvar/139204 ^@ NM_006359.2(SLC9A6):c.1520+10A>G http://identifiers.org/clinvar/139205 ^@ NM_006359.2(SLC9A6):c.1551+11G>A http://identifiers.org/clinvar/139206 ^@ NM_001042537.1(SLC9A6):c.1648-3C>T http://identifiers.org/clinvar/139207 ^@ NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) http://identifiers.org/clinvar/139208 ^@ NM_001042537.1(SLC9A6):c.1728-4G>A http://identifiers.org/clinvar/139209 ^@ NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) http://identifiers.org/clinvar/139210 ^@ NM_006359.2(SLC9A6):c.*8A>T http://identifiers.org/clinvar/139211 ^@ NM_006359.2(SLC9A6):c.141C>T (p.Gly47=) http://identifiers.org/clinvar/139212 ^@ NM_005902.3(SMAD3):c.508A>G (p.Ile170Val) http://identifiers.org/clinvar/139213 ^@ NM_005902.3(SMAD3):c.870C>T (p.Ile290=) http://identifiers.org/clinvar/139214 ^@ NM_005902.3(SMAD3):c.-28C>T http://identifiers.org/clinvar/139215 ^@ NM_005902.3(SMAD3):c.-23C>T http://identifiers.org/clinvar/139216 ^@ NM_005902.3(SMAD3):c.-15G>A http://identifiers.org/clinvar/139217 ^@ NM_005902.3(SMAD3):c.309A>G (p.Leu103=) http://identifiers.org/clinvar/139218 ^@ NM_005359.5(SMAD4):c.455-6A>G http://identifiers.org/clinvar/139219 ^@ NM_005359.5(SMAD4):c.1140-10T>C http://identifiers.org/clinvar/139220 ^@ NM_005359.5(SMAD4):c.*11C>T http://identifiers.org/clinvar/139221 ^@ NM_003098.2(SNTA1):c.909+17G>T http://identifiers.org/clinvar/139222 ^@ NM_003098.2(SNTA1):c.984C>T (p.Pro328=) http://identifiers.org/clinvar/139224 ^@ NM_003098.2(SNTA1):c.166C>T (p.Pro56Ser) http://identifiers.org/clinvar/139225 ^@ NM_005633.3(SOS1):c.1953A>G (p.Pro651=) http://identifiers.org/clinvar/139226 ^@ NM_005633.3(SOS1):c.1962G>A (p.Glu654=) http://identifiers.org/clinvar/139227 ^@ NM_005633.3(SOS1):c.1989A>C (p.Ile663=) http://identifiers.org/clinvar/139228 ^@ NM_005633.3(SOS1):c.2238T>C (p.Asn746=) http://identifiers.org/clinvar/139229 ^@ NM_005633.3(SOS1):c.3585A>G (p.Arg1195=) http://identifiers.org/clinvar/139231 ^@ NM_005633.3(SOS1):c.-47C>G http://identifiers.org/clinvar/139232 ^@ NM_005633.3(SOS1):c.-9G>A http://identifiers.org/clinvar/139233 ^@ NM_005633.3(SOS1):c.213+16T>C http://identifiers.org/clinvar/139234 ^@ NM_005633.3(SOS1):c.345+15C>T http://identifiers.org/clinvar/139235 ^@ NM_005633.3(SOS1):c.1203-20T>C http://identifiers.org/clinvar/139236 ^@ NM_005633.3(SOS1):c.1647A>G (p.Thr549=) http://identifiers.org/clinvar/139237 ^@ NM_003119.3(SPG7):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/139238 ^@ NM_003119.3(SPG7):c.987+19G>A http://identifiers.org/clinvar/139239 ^@ NM_003119.3(SPG7):c.1032C>T (p.Gly344=) http://identifiers.org/clinvar/139240 ^@ NM_003119.3(SPG7):c.1324+10C>T http://identifiers.org/clinvar/139241 ^@ NM_003119.3(SPG7):c.1457G>A (p.Arg486Gln) http://identifiers.org/clinvar/139242 ^@ NM_003119.3(SPG7):c.1663+13C>T http://identifiers.org/clinvar/139243 ^@ NM_003119.3(SPG7):c.1664-15C>A http://identifiers.org/clinvar/139244 ^@ NM_003119.3(SPG7):c.1664-11C>A http://identifiers.org/clinvar/139245 ^@ NM_003119.3(SPG7):c.1770C>T (p.Ala590=) http://identifiers.org/clinvar/139246 ^@ NM_003119.3(SPG7):c.1936+12C>T http://identifiers.org/clinvar/139247 ^@ NM_003119.3(SPG7):c.1937-16C>G http://identifiers.org/clinvar/139248 ^@ NM_003119.3(SPG7):c.2037G>A (p.Ala679=) http://identifiers.org/clinvar/139249 ^@ NM_003119.3(SPG7):c.2280G>A (p.Pro760=) http://identifiers.org/clinvar/139250 ^@ NM_003119.3(SPG7):c.2292C>T (p.Ile764=) http://identifiers.org/clinvar/139251 ^@ NM_003119.3(SPG7):c.2295C>T (p.Asp765=) http://identifiers.org/clinvar/139252 ^@ NM_003119.3(SPG7):c.9G>T (p.Val3=) http://identifiers.org/clinvar/139253 ^@ NM_003119.3(SPG7):c.120G>A (p.Gly40=) http://identifiers.org/clinvar/139254 ^@ NM_006846.3(SPINK5):c.316G>A (p.Asp106Asn) http://identifiers.org/clinvar/139255 ^@ NM_006846.3(SPINK5):c.531G>A (p.Arg177=) http://identifiers.org/clinvar/139256 ^@ NM_006846.3(SPINK5):c.800A>G (p.Gln267Arg) http://identifiers.org/clinvar/139257 ^@ NM_006846.3(SPINK5):c.1004C>T (p.Ala335Val) http://identifiers.org/clinvar/139258 ^@ NM_006846.3(SPINK5):c.1156G>A (p.Asp386Asn) http://identifiers.org/clinvar/139259 ^@ NM_006846.3(SPINK5):c.1188T>C (p.His396=) http://identifiers.org/clinvar/139260 ^@ NM_006846.3(SPINK5):c.1552C>T (p.Arg518Cys) http://identifiers.org/clinvar/139261 ^@ NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) http://identifiers.org/clinvar/139262 ^@ NM_006846.3(SPINK5):c.2475G>T (p.Glu825Asp) http://identifiers.org/clinvar/139263 ^@ NM_006846.3(SPINK5):c.2667-13A>T http://identifiers.org/clinvar/139264 ^@ NM_001130438.2(SPTAN1):c.652-6G>A http://identifiers.org/clinvar/139265 ^@ NM_001130438.2(SPTAN1):c.774G>A (p.Gln258=) http://identifiers.org/clinvar/139266 ^@ NM_001130438.2(SPTAN1):c.930+17G>A http://identifiers.org/clinvar/139267 ^@ NM_001130438.2(SPTAN1):c.931-16C>T http://identifiers.org/clinvar/139268 ^@ NM_001130438.2(SPTAN1):c.1221+11C>T http://identifiers.org/clinvar/139269 ^@ NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) http://identifiers.org/clinvar/139270 ^@ NM_001130438.2(SPTAN1):c.1461+14A>C http://identifiers.org/clinvar/139271 ^@ NM_001130438.2(SPTAN1):c.1710C>T (p.Ala570=) http://identifiers.org/clinvar/139272 ^@ NM_001130438.2(SPTAN1):c.1737C>T (p.Phe579=) http://identifiers.org/clinvar/139273 ^@ NM_001130438.2(SPTAN1):c.1807-11T>C http://identifiers.org/clinvar/139274 ^@ NM_001130438.2(SPTAN1):c.2011+10G>A http://identifiers.org/clinvar/139275 ^@ NM_001130438.2(SPTAN1):c.2163C>A (p.Ala721=) http://identifiers.org/clinvar/139276 ^@ NM_001130438.2(SPTAN1):c.2194-13T>G http://identifiers.org/clinvar/139277 ^@ NM_001130438.2(SPTAN1):c.2343C>A (p.Ala781=) http://identifiers.org/clinvar/139278 ^@ NM_001130438.2(SPTAN1):c.2610A>G (p.Gln870=) http://identifiers.org/clinvar/139279 ^@ NM_001130438.2(SPTAN1):c.2700C>T (p.Asn900=) http://identifiers.org/clinvar/139280 ^@ NM_001130438.2(SPTAN1):c.2778+18G>A http://identifiers.org/clinvar/139281 ^@ NM_001130438.2(SPTAN1):c.2880G>A (p.Val960=) http://identifiers.org/clinvar/139282 ^@ NM_001130438.2(SPTAN1):c.3051G>A (p.Pro1017=) http://identifiers.org/clinvar/139283 ^@ NM_001130438.2(SPTAN1):c.3300G>A (p.Ala1100=) http://identifiers.org/clinvar/139284 ^@ NM_001130438.2(SPTAN1):c.3520-19T>G http://identifiers.org/clinvar/139285 ^@ NM_001130438.2(SPTAN1):c.3520-14C>G http://identifiers.org/clinvar/139286 ^@ NM_001130438.2(SPTAN1):c.3849G>A (p.Ala1283=) http://identifiers.org/clinvar/139287 ^@ NM_001130438.2(SPTAN1):c.3912C>T (p.Pro1304=) http://identifiers.org/clinvar/139288 ^@ NM_001130438.2(SPTAN1):c.3970C>T (p.Leu1324=) http://identifiers.org/clinvar/139289 ^@ NM_001130438.2(SPTAN1):c.4224C>T (p.His1408=) http://identifiers.org/clinvar/139290 ^@ NM_001130438.2(SPTAN1):c.4410C>T (p.Thr1470=) http://identifiers.org/clinvar/139291 ^@ NM_001130438.2(SPTAN1):c.4595+4G>T http://identifiers.org/clinvar/139292 ^@ NM_001130438.2(SPTAN1):c.4773+13T>A http://identifiers.org/clinvar/139293 ^@ NM_001130438.2(SPTAN1):c.4905+20G>A http://identifiers.org/clinvar/139294 ^@ NM_001130438.2(SPTAN1):c.5019G>A (p.Lys1673=) http://identifiers.org/clinvar/139295 ^@ NM_001130438.2(SPTAN1):c.5085G>A (p.Leu1695=) http://identifiers.org/clinvar/139296 ^@ NM_001130438.2(SPTAN1):c.5358-16C>T http://identifiers.org/clinvar/139297 ^@ NM_001130438.2(SPTAN1):c.5406C>T (p.Thr1802=) http://identifiers.org/clinvar/139298 ^@ NM_001130438.2(SPTAN1):c.5415G>A (p.Gln1805=) http://identifiers.org/clinvar/139299 ^@ NM_001130438.2(SPTAN1):c.5460G>A (p.Ala1820=) http://identifiers.org/clinvar/139300 ^@ NM_001130438.2(SPTAN1):c.5478+12G>A http://identifiers.org/clinvar/139301 ^@ NM_001130438.2(SPTAN1):c.5523C>T (p.Ile1841=) http://identifiers.org/clinvar/139302 ^@ NM_001130438.2(SPTAN1):c.5552C>T (p.Ala1851Val) http://identifiers.org/clinvar/139303 ^@ NM_001130438.2(SPTAN1):c.5775C>T (p.Thr1925=) http://identifiers.org/clinvar/139304 ^@ NM_001130438.2(SPTAN1):c.5790C>T (p.Arg1930=) http://identifiers.org/clinvar/139305 ^@ NM_001130438.2(SPTAN1):c.5925G>A (p.Ala1975=) http://identifiers.org/clinvar/139306 ^@ NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) http://identifiers.org/clinvar/139307 ^@ NM_001130438.2(SPTAN1):c.6159C>T (p.His2053=) http://identifiers.org/clinvar/139308 ^@ NM_001130438.2(SPTAN1):c.6234C>T (p.Ala2078=) http://identifiers.org/clinvar/139309 ^@ NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=) http://identifiers.org/clinvar/139310 ^@ NM_001130438.2(SPTAN1):c.6549C>A (p.Thr2183=) http://identifiers.org/clinvar/139311 ^@ NM_001130438.2(SPTAN1):c.6660C>T (p.Asn2220=) http://identifiers.org/clinvar/139312 ^@ NM_001130438.2(SPTAN1):c.6708-7C>T http://identifiers.org/clinvar/139313 ^@ NM_001130438.2(SPTAN1):c.6762+10C>A http://identifiers.org/clinvar/139314 ^@ NM_001130438.2(SPTAN1):c.7146G>A (p.Thr2382=) http://identifiers.org/clinvar/139315 ^@ NM_001130438.2(SPTAN1):c.7155G>A (p.Pro2385=) http://identifiers.org/clinvar/139316 ^@ NM_001130438.2(SPTAN1):c.7161-9C>T http://identifiers.org/clinvar/139317 ^@ NM_001130438.2(SPTAN1):c.7161-8G>A http://identifiers.org/clinvar/139318 ^@ NM_001130438.2(SPTAN1):c.7359C>T (p.Tyr2453=) http://identifiers.org/clinvar/139319 ^@ NM_001130438.2(SPTAN1):c.7365C>T (p.Asp2455=) http://identifiers.org/clinvar/139320 ^@ NM_001130438.2(SPTAN1):c.7389C>T (p.Thr2463=) http://identifiers.org/clinvar/139321 ^@ NM_006415.3(SPTLC1):c.560+16G>C http://identifiers.org/clinvar/139322 ^@ NM_006415.3(SPTLC1):c.781-6A>G http://identifiers.org/clinvar/139323 ^@ NM_014467.2(SRPX2):c.460C>G (p.His154Asp) http://identifiers.org/clinvar/139324 ^@ NM_014467.2(SRPX2):c.961+12C>T http://identifiers.org/clinvar/139325 ^@ NM_014467.2(SRPX2):c.1218-6C>T http://identifiers.org/clinvar/139326 ^@ NM_014467.2(SRPX2):c.1293C>T (p.Tyr431=) http://identifiers.org/clinvar/139327 ^@ NM_014467.2(SRPX2):c.163+12T>C http://identifiers.org/clinvar/139328 ^@ NM_139276.2(STAT3):c.1381G>C (p.Val461Leu) http://identifiers.org/clinvar/139329 ^@ NM_003035.2(STIL):c.2218-17G>A http://identifiers.org/clinvar/139330 ^@ NM_000455.4(STK11):c.375-7G>A http://identifiers.org/clinvar/139331 ^@ NM_000455.4(STK11):c.464+9G>A http://identifiers.org/clinvar/139332 ^@ NM_000455.4(STK11):c.465-18G>T http://identifiers.org/clinvar/139333 ^@ NM_000455.4(STK11):c.597+8C>T http://identifiers.org/clinvar/139334 ^@ NM_000455.4(STK11):c.734+20G>A http://identifiers.org/clinvar/139335 ^@ NM_000455.4(STK11):c.787T>C (p.Leu263=) http://identifiers.org/clinvar/139336 ^@ NM_000455.4(STK11):c.825G>A (p.Pro275=) http://identifiers.org/clinvar/139337 ^@ NM_000455.4(STK11):c.882G>A (p.Pro294=) http://identifiers.org/clinvar/139338 ^@ NM_000455.4(STK11):c.921-10G>A http://identifiers.org/clinvar/139339 ^@ NM_000455.4(STK11):c.1296G>A (p.Gln432=) http://identifiers.org/clinvar/139340 ^@ NM_000455.4(STK11):c.*8C>T http://identifiers.org/clinvar/139341 ^@ NM_000455.4(STK11):c.*16+10G>A http://identifiers.org/clinvar/139342 ^@ NM_000455.4(STK11):c.*34C>T http://identifiers.org/clinvar/139343 ^@ NM_001032221.3(STXBP1):c.38-3T>C http://identifiers.org/clinvar/139344 ^@ NM_003165.3(STXBP1):c.247-8A>G http://identifiers.org/clinvar/139345 ^@ NM_003165.3(STXBP1):c.326-8A>G http://identifiers.org/clinvar/139346 ^@ NM_003165.3(STXBP1):c.627C>T (p.Leu209=) http://identifiers.org/clinvar/139347 ^@ NM_003165.3(STXBP1):c.663+17C>T http://identifiers.org/clinvar/139348 ^@ NM_003165.3(STXBP1):c.846C>T (p.Asp282=) http://identifiers.org/clinvar/139349 ^@ NM_003165.3(STXBP1):c.888C>T (p.Ile296=) http://identifiers.org/clinvar/139350 ^@ NM_003165.3(STXBP1):c.902+15C>T http://identifiers.org/clinvar/139351 ^@ NM_003165.3(STXBP1):c.1356C>T (p.Thr452=) http://identifiers.org/clinvar/139352 ^@ NM_003165.3(STXBP1):c.1359+15C>T http://identifiers.org/clinvar/139353 ^@ NM_003165.3(STXBP1):c.6C>A (p.Ala2=) http://identifiers.org/clinvar/139354 ^@ NM_003165.3(STXBP1):c.1662C>T (p.Tyr554=) http://identifiers.org/clinvar/139355 ^@ NM_003165.3(STXBP1):c.1680C>T (p.Asn560=) http://identifiers.org/clinvar/139356 ^@ NM_003165.3(STXBP1):c.1702+10C>T http://identifiers.org/clinvar/139357 ^@ NM_003165.3(STXBP1):c.1702+11G>A http://identifiers.org/clinvar/139358 ^@ NM_003850.2(SUCLA2):c.371+9C>T http://identifiers.org/clinvar/139359 ^@ NM_003850.2(SUCLA2):c.510A>G (p.Ala170=) http://identifiers.org/clinvar/139360 ^@ NM_003850.2(SUCLA2):c.595T>A (p.Ser199Thr) http://identifiers.org/clinvar/139361 ^@ NM_003850.2(SUCLA2):c.789T>C (p.Asp263=) http://identifiers.org/clinvar/139362 ^@ NM_003850.2(SUCLA2):c.1099G>A (p.Asp367Asn) http://identifiers.org/clinvar/139363 ^@ NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) http://identifiers.org/clinvar/139364 ^@ NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) http://identifiers.org/clinvar/139366 ^@ NM_003850.2(SUCLA2):c.37G>A (p.Val13Met) http://identifiers.org/clinvar/139367 ^@ NM_003850.2(SUCLA2):c.45C>T (p.Thr15=) http://identifiers.org/clinvar/139368 ^@ NM_003849.3(SUCLG1):c.201+9A>G http://identifiers.org/clinvar/139369 ^@ NM_003849.3(SUCLG1):c.202-4T>C http://identifiers.org/clinvar/139370 ^@ NM_003849.3(SUCLG1):c.589+16A>G http://identifiers.org/clinvar/139371 ^@ NM_003849.3(SUCLG1):c.627A>C (p.Ala209=) http://identifiers.org/clinvar/139372 ^@ NM_003172.3(SURF1):c.167C>G (p.Ala56Gly) http://identifiers.org/clinvar/139373 ^@ NM_003172.3(SURF1):c.280T>C (p.Leu94=) http://identifiers.org/clinvar/139374 ^@ NM_003172.3(SURF1):c.573C>G (p.Thr191=) http://identifiers.org/clinvar/139375 ^@ NM_003172.3(SURF1):c.604G>C (p.Asp202His) http://identifiers.org/clinvar/139376 ^@ NM_003172.3(SURF1):c.751+6T>C http://identifiers.org/clinvar/139377 ^@ NM_003172.3(SURF1):c.-37C>T http://identifiers.org/clinvar/139378 ^@ NM_003172.3(SURF1):c.54+9C>G http://identifiers.org/clinvar/139379 ^@ NM_003172.3(SURF1):c.54+10G>A http://identifiers.org/clinvar/139380 ^@ NM_133499.2(SYN1):c.528-19C>T http://identifiers.org/clinvar/139381 ^@ NM_133499.2(SYN1):c.980+14C>T http://identifiers.org/clinvar/139382 ^@ NM_133499.2(SYN1):c.1055+12G>A http://identifiers.org/clinvar/139383 ^@ NM_133499.2(SYN1):c.1569G>A (p.Ala523=) http://identifiers.org/clinvar/139384 ^@ NM_133499.2(SYN1):c.152C>G (p.Ala51Gly) http://identifiers.org/clinvar/139385 ^@ NM_013251.3(TAC3):c.295T>C (p.Ser99Pro) http://identifiers.org/clinvar/139386 ^@ NM_016360.3(TACO1):c.433G>A (p.Gly145Ser) http://identifiers.org/clinvar/139387 ^@ NM_016360.3(TACO1):c.516-18T>A http://identifiers.org/clinvar/139388 ^@ NM_000116.4(TAZ):c.542-20C>T http://identifiers.org/clinvar/139389 ^@ NM_000116.4(TAZ):c.634C>T (p.Leu212=) http://identifiers.org/clinvar/139390 ^@ NM_000116.4(TAZ):c.646+14C>T http://identifiers.org/clinvar/139391 ^@ NM_001199107.1(TBC1D24):c.-31T>C http://identifiers.org/clinvar/139392 ^@ NM_001199107.1(TBC1D24):c.-7C>T http://identifiers.org/clinvar/139393 ^@ NM_001199107.1(TBC1D24):c.204G>A (p.Thr68=) http://identifiers.org/clinvar/139394 ^@ NM_001199107.1(TBC1D24):c.441C>T (p.Asp147=) http://identifiers.org/clinvar/139395 ^@ NM_001199107.1(TBC1D24):c.657G>A (p.Glu219=) http://identifiers.org/clinvar/139396 ^@ NM_020705.2(TBC1D24):c.885C>G (p.Phe295Leu) http://identifiers.org/clinvar/139397 ^@ NM_001199107.1(TBC1D24):c.1002C>T (p.Ala334=) http://identifiers.org/clinvar/139398 ^@ NM_001199107.1(TBC1D24):c.1074C>T (p.Pro358=) http://identifiers.org/clinvar/139399 ^@ NM_001199107.1(TBC1D24):c.1143-15G>A http://identifiers.org/clinvar/139400 ^@ NM_001199107.1(TBC1D24):c.1526-20C>T http://identifiers.org/clinvar/139401 ^@ NM_020705.2:c.+1C>T http://identifiers.org/clinvar/139402 ^@ NM_001083962.1(TCF4):c.208-8A>G http://identifiers.org/clinvar/139403 ^@ NM_001083962.1(TCF4):c.305-14G>A http://identifiers.org/clinvar/139404 ^@ NM_001083962.1(TCF4):c.504A>G (p.Val168=) http://identifiers.org/clinvar/139405 ^@ NM_001083962.1(TCF4):c.936C>T (p.Ser312=) http://identifiers.org/clinvar/139406 ^@ NM_001083962.1(TCF4):c.966T>C (p.Asp322=) http://identifiers.org/clinvar/139407 ^@ NM_001083962.1(TCF4):c.1299G>A (p.Leu433=) http://identifiers.org/clinvar/139408 ^@ NM_001083962.1(TCF4):c.1351-19G>A http://identifiers.org/clinvar/139409 ^@ NM_001083962.1(TCF4):c.1551C>T (p.Asp517=) http://identifiers.org/clinvar/139410 ^@ NM_001083962.1(TCF4):c.1650-14C>T http://identifiers.org/clinvar/139411 ^@ NM_001083962.1(TCF4):c.1905G>A (p.Ala635=) http://identifiers.org/clinvar/139412 ^@ NM_001083962.1(TCF4):c.1995G>A (p.Ser665=) http://identifiers.org/clinvar/139413 ^@ NM_001083962.1(TCF4):c.*5-10C>T http://identifiers.org/clinvar/139415 ^@ NM_001083962.1(TCF4):c.73-3T>C http://identifiers.org/clinvar/139416 ^@ NM_003238.4(TGFB2):c.643+7A>C http://identifiers.org/clinvar/139428 ^@ GLI2, 1256TER http://identifiers.org/clinvar/139429 ^@ NM_005270.4(GLI2):c.2362_2368delCTGTCGG (p.Leu788Serfs) http://identifiers.org/clinvar/139430 ^@ NM_005270.4(GLI2):c.2081_2084delTGAC (p.Leu694Argfs) http://identifiers.org/clinvar/139431 ^@ NM_005270.4(GLI2):c.1138G>T (p.Glu380Ter) http://identifiers.org/clinvar/139432 ^@ NM_000240.3(MAOA):c.797G>T (p.Cys266Phe) http://identifiers.org/clinvar/139433 ^@ NM_001242896.1(DEPDC5):c.3259C>T (p.Arg1087Ter) http://identifiers.org/clinvar/139434 ^@ NM_001242896.1(DEPDC5):c.1459C>T (p.Arg487Ter) http://identifiers.org/clinvar/139436 ^@ NM_001164342.2(ZBTB20):c.1768A>C (p.Lys590Gln) http://identifiers.org/clinvar/139437 ^@ NM_001164342.2(ZBTB20):c.1771C>G (p.Gln591Glu) http://identifiers.org/clinvar/139438 ^@ NM_001164342.2(ZBTB20):c.1787A>G (p.His596Arg) http://identifiers.org/clinvar/139439 ^@ NM_003072.3(SMARCA4):c.3533G>A (p.Trp1178Ter) http://identifiers.org/clinvar/139440 ^@ NM_001128845.1(SMARCA4):c.4071+1G>A http://identifiers.org/clinvar/139441 ^@ NM_001128849.1(SMARCA4):c.643C>T (p.Gln215Ter) http://identifiers.org/clinvar/139442 ^@ NM_001128845.1(SMARCA4):c.2617-3C>G http://identifiers.org/clinvar/139443 ^@ NM_001128849.1(SMARCA4):c.3239G>A (p.Gly1080Asp) http://identifiers.org/clinvar/139444 ^@ NM_001128159.2(VPS53):c.2084A>G (p.Gln695Arg) http://identifiers.org/clinvar/139445 ^@ NM_001128159.2(VPS53):c.1556+5G>A http://identifiers.org/clinvar/139446 ^@ NM_001164342.2(ZBTB20):c.1802C>T (p.Thr601Ile) http://identifiers.org/clinvar/139447 ^@ NM_001164342.2(ZBTB20):c.1805G>C (p.Gly602Ala) http://identifiers.org/clinvar/139448 ^@ NM_001164342.2(ZBTB20):c.1811A>C (p.Lys604Thr) http://identifiers.org/clinvar/139449 ^@ NM_001164342.2(ZBTB20):c.1861C>T (p.Leu621Phe) http://identifiers.org/clinvar/139450 ^@ NM_001164342.2(ZBTB20):c.1876G>A (p.Val626Met) http://identifiers.org/clinvar/139452 ^@ NM_006087.3(TUBB4A):c.5G>A (p.Arg2Gln) http://identifiers.org/clinvar/139453 ^@ NM_006087.3(TUBB4A):c.533C>G (p.Thr178Arg) http://identifiers.org/clinvar/139460 ^@ NM_000510.2(FSHB):c.-280G>T http://identifiers.org/clinvar/139461 ^@ NR_131224.1(H19):n.249+989C>T http://identifiers.org/clinvar/139462 ^@ NR_131224.1(H19):n.249+306C>T http://identifiers.org/clinvar/139512 ^@ NM_012079.5(DGAT1):c.751+2T>C http://identifiers.org/clinvar/139513 ^@ NM_015072.4(TTLL5):c.1586_1589delAGAG (p.Glu529Valfs) http://identifiers.org/clinvar/139514 ^@ NM_015072.4(TTLL5):c.401delT (p.Leu134Argfs) http://identifiers.org/clinvar/139515 ^@ NM_015072.4(TTLL5):c.3354G>A (p.Trp1118Ter) http://identifiers.org/clinvar/139516 ^@ NM_015072.4(TTLL5):c.1627G>T (p.Glu543Ter) http://identifiers.org/clinvar/139517 ^@ NM_015072.4(TTLL5):c.1627G>A (p.Glu543Lys) http://identifiers.org/clinvar/139519 ^@ NM_000361.2(THBD):c.-151G>T http://identifiers.org/clinvar/139520 ^@ NM_015450.2(POT1):c.266A>G (p.Tyr89Cys) http://identifiers.org/clinvar/139521 ^@ NM_015450.2(POT1):c.1687-1G>A http://identifiers.org/clinvar/139522 ^@ NM_015450.2(POT1):c.280C>G (p.Gln94Glu) http://identifiers.org/clinvar/139523 ^@ NM_015450.2(POT1):c.410G>A (p.Arg137His) http://identifiers.org/clinvar/139524 ^@ NM_015450.2(POT1):c.818G>T (p.Arg273Leu) http://identifiers.org/clinvar/139525 ^@ NM_015450.2(POT1):c.809G>A (p.Ser270Asn) http://identifiers.org/clinvar/139526 ^@ NM_015450.2(POT1):c.1869G>C (p.Gln623His) http://identifiers.org/clinvar/139527 ^@ NM_015450.2(POT1):c.670G>A (p.Asp224Asn) http://identifiers.org/clinvar/139529 ^@ NM_003108.3(SOX11):c.347A>G (p.Tyr116Cys) http://identifiers.org/clinvar/139530 ^@ NM_003108.3(SOX11):c.178T>C (p.Ser60Pro) http://identifiers.org/clinvar/139531 ^@ NM_001424.5(EMP2):c.184C>T (p.Gln62Ter) http://identifiers.org/clinvar/139532 ^@ NM_001424.5(EMP2):c.21C>G (p.Phe7Leu) http://identifiers.org/clinvar/139533 ^@ NM_001424.5(EMP2):c.28G>A (p.Ala10Thr) http://identifiers.org/clinvar/139534 ^@ NM_006623.3(PHGDH):c.418G>A (p.Gly140Arg) http://identifiers.org/clinvar/139535 ^@ NM_006623.3(PHGDH):c.488G>A (p.Arg163Gln) http://identifiers.org/clinvar/139536 ^@ NM_033407.3(DOCK7):c.2510delA (p.Asp837Alafs) http://identifiers.org/clinvar/139537 ^@ NM_033407.3(DOCK7):c.3616C>T (p.Arg1206Ter) http://identifiers.org/clinvar/139538 ^@ NM_033407.3(DOCK7):c.983C>G (p.Ser328Ter) http://identifiers.org/clinvar/139539 ^@ NM_033407.3(DOCK7):c.6172G>T (p.Glu2058Ter) http://identifiers.org/clinvar/139540 ^@ NM_016122.2(CEP83):c.121C>T (p.Arg41Ter) http://identifiers.org/clinvar/139541 ^@ NM_001042399.1(CEP83):c.335_352del18 (p.Pro112_Leu117del) http://identifiers.org/clinvar/139542 ^@ NM_016122.2(CEP83):c.241C>T (p.Gln81Ter) http://identifiers.org/clinvar/139543 ^@ NM_001042399.1(CEP83):c.2075_2077delAAC (p.Gln692del) http://identifiers.org/clinvar/139544 ^@ NM_016122.2(CEP83):c.1532G>C (p.Arg511Pro) http://identifiers.org/clinvar/139545 ^@ NM_016122.2(CEP83):c.625C>T (p.Arg209Ter) http://identifiers.org/clinvar/139546 ^@ NM_016122.2(CEP83):c.1530C>A (p.Cys510Ter) http://identifiers.org/clinvar/139557 ^@ NM_001015877.1(PHF6):c.914G>T (p.Cys305Phe) http://identifiers.org/clinvar/139560 ^@ NM_000040.1(APOC3):c.55+1G>A http://identifiers.org/clinvar/139561 ^@ NM_000040.1(APOC3):c.127G>A (p.Ala43Thr) http://identifiers.org/clinvar/139562 ^@ NM_000040.1(APOC3):c.179+1G>T http://identifiers.org/clinvar/139565 ^@ NM_001199835.1(SNX10):c.46C>T (p.Arg16Ter) http://identifiers.org/clinvar/139567 ^@ NM_000314.6(PTEN):c.338G>T (p.Ser113Ile) http://identifiers.org/clinvar/139568 ^@ NM_000314.6(PTEN):c.379G>A (p.Gly127Arg) http://identifiers.org/clinvar/139569 ^@ NM_000321.2(RB1):c.1421+12_1421+32del http://identifiers.org/clinvar/139570 ^@ NM_000321.2(RB1):c.1907delT (p.Phe636Serfs) http://identifiers.org/clinvar/139571 ^@ NM_021072.3(HCN1):c.1201G>C (p.Asp401His) http://identifiers.org/clinvar/139572 ^@ NM_021072.3(HCN1):c.299C>T (p.Ser100Phe) http://identifiers.org/clinvar/139573 ^@ NM_021072.3(HCN1):c.814T>C (p.Ser272Pro) http://identifiers.org/clinvar/139574 ^@ NM_021072.3(HCN1):c.890G>C (p.Arg297Thr) http://identifiers.org/clinvar/139575 ^@ NM_021072.3(HCN1):c.835C>T (p.His279Tyr) http://identifiers.org/clinvar/139576 ^@ NM_025216.2(WNT10A):c.637G>A (p.Gly213Ser) http://identifiers.org/clinvar/139577 ^@ NM_020435.3(GJC2):c.-170A>G http://identifiers.org/clinvar/139579 ^@ NM_152296.4(ATP1A3):c.2839G>C (p.Gly947Arg) http://identifiers.org/clinvar/139581 ^@ NG_013224.2:g.(?_4960)_(103567_105489)dup http://identifiers.org/clinvar/139587 ^@ NM_021116.2(ADCY1):c.3112C>T (p.Arg1038Ter) http://identifiers.org/clinvar/139588 ^@ NM_001079867.1(PEX2):c.279_283delGAGAT (p.Arg94Serfs) http://identifiers.org/clinvar/139589 ^@ NM_001079867.1(PEX2):c.739T>C (p.Cys247Arg) http://identifiers.org/clinvar/139590 ^@ NM_001079867.1(PEX2):c.669G>A (p.Trp223Ter) http://identifiers.org/clinvar/139591 ^@ NM_000192.3(TBX5):c.338G>A (p.Arg113Lys) http://identifiers.org/clinvar/139592 ^@ NM_000192.3(TBX5):c.663+36G>T http://identifiers.org/clinvar/139593 ^@ NM_002052.4(GATA4):c.*354A>C http://identifiers.org/clinvar/139594 ^@ NM_002052.4(GATA4):c.*426C>T http://identifiers.org/clinvar/139595 ^@ NM_002052.4(GATA4):c.909+25G>A http://identifiers.org/clinvar/139596 ^@ NM_002052.4(GATA4):c.997+56C>A http://identifiers.org/clinvar/139597 ^@ NM_021973.2(HAND2):c.390C>A (p.Pro130=) http://identifiers.org/clinvar/139598 ^@ NM_001369.2(DNAH5):c.986A>C (p.Glu329Ala) http://identifiers.org/clinvar/139599 ^@ NM_021147.4(CCNO):c.248_252dupTGCCC (p.Gly85Cysfs) http://identifiers.org/clinvar/139600 ^@ NM_021147.4(CCNO):c.258_262dupGGCCC (p.Gln88Argfs) http://identifiers.org/clinvar/139601 ^@ NM_021147.4(CCNO):c.926delC (p.Pro309Argfs) http://identifiers.org/clinvar/139602 ^@ NM_021147.4(CCNO):c.961C>T (p.Gln321Ter) http://identifiers.org/clinvar/139603 ^@ NM_021147.4(CCNO):c.263_267dupAGCCC (p.Val90Serfs) http://identifiers.org/clinvar/139604 ^@ NM_018672.4(ABCA5):c.4320+1G>C http://identifiers.org/clinvar/139605 ^@ NM_005609.3(PYGM):c.564C>A (p.Asn188Lys) http://identifiers.org/clinvar/139606 ^@ NM_005609.3(PYGM):c.1289C>T (p.Ser430Leu) http://identifiers.org/clinvar/139607 ^@ NM_005609.3(PYGM):c.1365C>T (p.Gly455=) http://identifiers.org/clinvar/139608 ^@ NM_005609.3(PYGM):c.255C>A (p.Tyr85Ter) http://identifiers.org/clinvar/139609 ^@ NM_005609.3(PYGM):c.2128_2130delTTC (p.Phe710del) http://identifiers.org/clinvar/139611 ^@ NM_021147.4(CCNO):c.481_482delCT (p.Leu161Glyfs) http://identifiers.org/clinvar/139612 ^@ NM_144643.3(SCLT1):c.290+2T>C http://identifiers.org/clinvar/139613 ^@ NM_152730.5(TBC1D32):c.1372+1G>T http://identifiers.org/clinvar/139615 ^@ NM_022552.4(DNMT3A):c.889_891delTGG (p.Trp297del) http://identifiers.org/clinvar/139616 ^@ NM_022552.4(DNMT3A):c.1943T>C (p.Leu648Pro) http://identifiers.org/clinvar/139617 ^@ NM_022552.4(DNMT3A):c.929T>A (p.Ile310Asn) http://identifiers.org/clinvar/139618 ^@ NM_022552.4(DNMT3A):c.1643T>A (p.Met548Lys) http://identifiers.org/clinvar/139619 ^@ NM_022552.4(DNMT3A):c.2705T>C (p.Phe902Ser) http://identifiers.org/clinvar/139620 ^@ NM_006439.4(MAB21L2):c.152G>A (p.Arg51His) http://identifiers.org/clinvar/139621 ^@ NM_006439.4(MAB21L2):c.151C>T (p.Arg51Cys) http://identifiers.org/clinvar/139622 ^@ NM_006439.4(MAB21L2):c.145G>A (p.Glu49Lys) http://identifiers.org/clinvar/139623 ^@ NM_006439.4(MAB21L2):c.740G>A (p.Arg247Gln) http://identifiers.org/clinvar/139624 ^@ NM_004771.3(MMP20):c.678T>A (p.His226Gln) http://identifiers.org/clinvar/139625 ^@ NM_004771.3(MMP20):c.102G>A (p.Trp34Ter) http://identifiers.org/clinvar/139626 ^@ NM_139314.2(ANGPTL4):c.649A>T (p.Lys217Ter) http://identifiers.org/clinvar/139627 ^@ NM_004817.3(TJP2):c.766_769delGCCT (p.Ala256Thrfs) http://identifiers.org/clinvar/139628 ^@ NM_004817.3(TJP2):c.885delC (p.Ser296Alafs) http://identifiers.org/clinvar/139629 ^@ NM_004817.3(TJP2):c.1361delC (p.Ala454Glyfs) http://identifiers.org/clinvar/139630 ^@ NM_004817.3(TJP2):c.1992-2A>G http://identifiers.org/clinvar/139631 ^@ NM_181442.3(ADNP):c.2491_2494delTTAA (p.Leu831Ilefs) http://identifiers.org/clinvar/139632 ^@ NM_015339.2(ADNP):c.2496_2499delTAAA (p.Asn832Lysfs) http://identifiers.org/clinvar/139633 ^@ NM_001282531.2(ADNP):c.1211C>A (p.Ser404Ter) http://identifiers.org/clinvar/139634 ^@ NM_001282531.2(ADNP):c.2808delC (p.Tyr936Terfs) http://identifiers.org/clinvar/139635 ^@ NM_015339.3(ADNP):c.2157C>G (p.Tyr719Ter) http://identifiers.org/clinvar/139638 ^@ NM_000982.3(RPL21):c.95G>A (p.Arg32Gln) http://identifiers.org/clinvar/139640 ^@ NM_032790.3(ORAI1):c.734C>T (p.Pro245Leu) http://identifiers.org/clinvar/139642 ^@ m.961_962delTinsC(n) http://identifiers.org/clinvar/139643 ^@ NM_003491.3(NAA10):c.319G>T (p.Val107Phe) http://identifiers.org/clinvar/139644 ^@ NM_003491.3(NAA10):c.346C>T (p.Arg116Trp) http://identifiers.org/clinvar/139647 ^@ NM_153819.1(RASGRP2):c.742G>T (p.Gly248Trp) http://identifiers.org/clinvar/139648 ^@ NM_017565.3(FAM20A):c.720-2A>G http://identifiers.org/clinvar/139649 ^@ NM_017565.3(FAM20A):c.1432C>T (p.Arg478Ter) http://identifiers.org/clinvar/139650 ^@ NM_017565.3(FAM20A):c.612delC (p.Leu205Cysfs) http://identifiers.org/clinvar/139651 ^@ NM_017841.2(SDHAF2):c.*12C>T http://identifiers.org/clinvar/139652 ^@ NM_001376.4(DYNC1H1):c.1792C>T (p.Arg598Cys) http://identifiers.org/clinvar/139654 ^@ NM_001814.5(CTSC):c.1056delT (p.Tyr352Terfs) http://identifiers.org/clinvar/139655 ^@ NM_001814.5(CTSC):c.96T>G (p.Tyr32Ter) http://identifiers.org/clinvar/139656 ^@ NM_001814.5(CTSC):c.815G>A (p.Arg272His) http://identifiers.org/clinvar/139657 ^@ NM_153648.3(SLC24A4):c.823C>T (p.Arg275Ter) http://identifiers.org/clinvar/139658 ^@ NM_153648.3(SLC24A4):c.1303A>T (p.Ser435Cys) http://identifiers.org/clinvar/139659 ^@ NM_153648.3(SLC24A4):c.245C>T (p.Ala82Val) http://identifiers.org/clinvar/139660 ^@ NM_001145715.2(KPNA7):c.1015C>G (p.Pro339Ala) http://identifiers.org/clinvar/139661 ^@ NM_001145715.2(KPNA7):c.1030G>C (p.Glu344Gln) http://identifiers.org/clinvar/139662 ^@ NM_000192.3(TBX5):c.301A>T (p.Ile101Phe) http://identifiers.org/clinvar/139663 ^@ NM_002471.3(MYH6):c.2033A>G (p.Asn678Ser) http://identifiers.org/clinvar/139664 ^@ NM_017617.4(NOTCH1):c.2014+1G>A http://identifiers.org/clinvar/139665 ^@ NM_017617.4(NOTCH1):c.5061G>T (p.Gln1687His) http://identifiers.org/clinvar/139666 ^@ NM_017617.4(NOTCH1):c.5281delC (p.Arg1761Glyfs) http://identifiers.org/clinvar/140168 ^@ NM_007294.3(BRCA1):c.5205delA (p.Val1736Serfs) http://identifiers.org/clinvar/140454 ^@ NM_001905.3(CTPS1):c.1692-1G>C http://identifiers.org/clinvar/140455 ^@ NM_005188.3(CBL):c.1228-1G>A http://identifiers.org/clinvar/140456 ^@ NM_001301231.1(HMGB3):c.540_541dupTA (p.Lys181Ilefs) http://identifiers.org/clinvar/140457 ^@ NM_003916.4(AP1S2):c.426+1G>T http://identifiers.org/clinvar/140458 ^@ NM_004204.3(PIGQ):c.690-2A>G http://identifiers.org/clinvar/140459 ^@ NM_022048.4(CSNK1G1):c.688C>T (p.Arg230Trp) http://identifiers.org/clinvar/140460 ^@ NM_033448.2(KRT71):c.422T>G (p.Phe141Cys) http://identifiers.org/clinvar/140462 ^@ NM_001177701.2(IFT27):c.299G>A (p.Cys100Tyr) http://identifiers.org/clinvar/140470 ^@ NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs) http://identifiers.org/clinvar/140471 ^@ NM_012330.3(KAT6B):c.3773dupA (p.Trp1259Valfs) http://identifiers.org/clinvar/140472 ^@ NM_012330.3(KAT6B):c.3788_3789delAA (p.Lys1263Argfs) http://identifiers.org/clinvar/140473 ^@ NM_012330.3(KAT6B):c.3877A>T (p.Lys1293Ter) http://identifiers.org/clinvar/140474 ^@ NM_012330.3(KAT6B):c.4360_4368delGAAAACCAGinsAAAAACCAAAA (p.Glu1454Lysfs) http://identifiers.org/clinvar/140476 ^@ NM_012330.3(KAT6B):c.4911_4921delAGTGCCATCTC (p.Val1638Alafs) http://identifiers.org/clinvar/140477 ^@ NM_012330.3(KAT6B):c.5030delC (p.Thr1677Metfs) http://identifiers.org/clinvar/140478 ^@ NM_012330.3(KAT6B):c.527dupA (p.Tyr176Terfs) http://identifiers.org/clinvar/140480 ^@ NM_012330.3(KAT6B):c.5734A>T (p.Arg1912Ter) http://identifiers.org/clinvar/140481 ^@ NM_003282.3(TNNI2):c.15+140C>A http://identifiers.org/clinvar/140482 ^@ NM_003282.3(TNNI2):c.15+21C>G http://identifiers.org/clinvar/140483 ^@ NM_003282.3(TNNI2):c.186+26G>A http://identifiers.org/clinvar/140484 ^@ NM_003289.3(TPM2):c.115-105A>G http://identifiers.org/clinvar/140485 ^@ NM_003289.3(TPM2):c.154_156dupGGG (p.Gly52_Thr53insGly) http://identifiers.org/clinvar/140486 ^@ NM_003289.3(TPM2):c.20_22delAGA (p.Lys7del) http://identifiers.org/clinvar/140487 ^@ NM_003289.3(TPM2):c.240+2T>G http://identifiers.org/clinvar/140488 ^@ NM_003289.3(TPM2):c.240+4_240+7del http://identifiers.org/clinvar/140489 ^@ NM_003289.3(TPM2):c.240+5G>A http://identifiers.org/clinvar/140490 ^@ NM_003289.3(TPM2):c.278A>G (p.Gln93Arg) http://identifiers.org/clinvar/140491 ^@ NM_003289.3(TPM2):c.398G>C (p.Arg133Pro) http://identifiers.org/clinvar/140492 ^@ NM_003289.3(TPM2):c.5A>T (p.Asp2Val) http://identifiers.org/clinvar/140493 ^@ NM_003289.3(TPM2):c.628C>T (p.Gln210Ter) http://identifiers.org/clinvar/140494 ^@ NM_003289.3(TPM2):c.654_656delAGA (p.Glu218del) http://identifiers.org/clinvar/140495 ^@ NM_003289.3(TPM2):c.699G>T (p.Lys233Asn) http://identifiers.org/clinvar/140496 ^@ NM_003289.3(TPM2):c.773-3C>A http://identifiers.org/clinvar/140497 ^@ NM_152263.3(TPM3):c.244-5T>C http://identifiers.org/clinvar/140498 ^@ NM_152263.3(TPM3):c.466G>A (p.Ala156Thr) http://identifiers.org/clinvar/140499 ^@ NM_152263.3(TPM3):c.521A>C (p.Glu174Ala) http://identifiers.org/clinvar/140500 ^@ NM_005857.4(ZMPSTE24):c.*723C>T http://identifiers.org/clinvar/140501 ^@ NM_005857.4(ZMPSTE24):c.*890A>G http://identifiers.org/clinvar/140502 ^@ NM_005857.4(ZMPSTE24):c.-211-938G>A http://identifiers.org/clinvar/140503 ^@ NM_005857.4(ZMPSTE24):c.-211-1058C>G http://identifiers.org/clinvar/140504 ^@ NM_005857.4(ZMPSTE24):c.-194A>G http://identifiers.org/clinvar/140505 ^@ NM_005857.4(ZMPSTE24):c.-211-115G>A http://identifiers.org/clinvar/140506 ^@ NM_005857.4(ZMPSTE24):c.-211-159G>T http://identifiers.org/clinvar/140507 ^@ NM_005857.4(ZMPSTE24):c.-211-311C>G http://identifiers.org/clinvar/140508 ^@ NM_005857.4(ZMPSTE24):c.-211-743G>C http://identifiers.org/clinvar/140509 ^@ NM_005857.4(ZMPSTE24):c.1020G>A (p.Trp340Ter) http://identifiers.org/clinvar/140510 ^@ NM_005857.4(ZMPSTE24):c.1035A>G (p.Thr345=) http://identifiers.org/clinvar/140511 ^@ NM_005857.4(ZMPSTE24):c.1059+61G>A http://identifiers.org/clinvar/140512 ^@ NM_005857.4(ZMPSTE24):c.1105C>T (p.Arg369Ter) http://identifiers.org/clinvar/140513 ^@ NM_005857.4(ZMPSTE24):c.1204-1G>A http://identifiers.org/clinvar/140514 ^@ NM_005857.4(ZMPSTE24):c.1204-5_1210del http://identifiers.org/clinvar/140515 ^@ NM_005857.4(ZMPSTE24):c.124-2A>C http://identifiers.org/clinvar/140516 ^@ NM_005857.4(ZMPSTE24):c.1249C>T (p.Gln417Ter) http://identifiers.org/clinvar/140517 ^@ NM_005857.4(ZMPSTE24):c.1263dupT (p.Ala422Cysfs) http://identifiers.org/clinvar/140518 ^@ NM_005857.4(ZMPSTE24):c.1312C>T (p.Leu438Phe) http://identifiers.org/clinvar/140519 ^@ NM_005857.4(ZMPSTE24):c.1356C>G (p.Phe452Leu) http://identifiers.org/clinvar/140520 ^@ NM_005857.4(ZMPSTE24):c.1385T>G (p.Leu462Arg) http://identifiers.org/clinvar/140521 ^@ NM_005857.4(ZMPSTE24):c.207_208delCT (p.Tyr70Serfs) http://identifiers.org/clinvar/140522 ^@ NM_005857.4(ZMPSTE24):c.209_210delAT (p.Tyr70Serfs) http://identifiers.org/clinvar/140523 ^@ NM_005857.4(ZMPSTE24):c.281T>C (p.Leu94Pro) http://identifiers.org/clinvar/140524 ^@ NM_005857.4(ZMPSTE24):c.296delC (p.Pro99Leufs) http://identifiers.org/clinvar/140525 ^@ NM_005857.4(ZMPSTE24):c.357+114A>G http://identifiers.org/clinvar/140526 ^@ NM_005857.4(ZMPSTE24):c.401delG (p.Ser134Metfs) http://identifiers.org/clinvar/140527 ^@ NM_005857.4(ZMPSTE24):c.474+83A>C http://identifiers.org/clinvar/140528 ^@ NM_005857.4(ZMPSTE24):c.475-2A>G http://identifiers.org/clinvar/140530 ^@ NM_005857.4(ZMPSTE24):c.592_593delAT (p.Ile198Leufs) http://identifiers.org/clinvar/140531 ^@ NM_005857.4(ZMPSTE24):c.627+18T>G http://identifiers.org/clinvar/140532 ^@ NM_005857.4(ZMPSTE24):c.627+1G>C http://identifiers.org/clinvar/140533 ^@ NM_005857.4(ZMPSTE24):c.628-2A>G http://identifiers.org/clinvar/140534 ^@ NM_005857.4(ZMPSTE24):c.628-50T>C http://identifiers.org/clinvar/140535 ^@ NM_005857.4(ZMPSTE24):c.628-50T>G http://identifiers.org/clinvar/140536 ^@ NM_005857.4(ZMPSTE24):c.691G>T (p.Glu231Ter) http://identifiers.org/clinvar/140537 ^@ NM_005857.4(ZMPSTE24):c.709G>T (p.Glu237Ter) http://identifiers.org/clinvar/140538 ^@ NM_005857.4(ZMPSTE24):c.769+4192C>T http://identifiers.org/clinvar/140539 ^@ NM_005857.4(ZMPSTE24):c.770-131T>C http://identifiers.org/clinvar/140540 ^@ NM_005857.4(ZMPSTE24):c.794A>G (p.Asn265Ser) http://identifiers.org/clinvar/140541 ^@ NM_005857.4(ZMPSTE24):c.826C>T (p.Arg276Ter) http://identifiers.org/clinvar/140542 ^@ NM_005857.4(ZMPSTE24):c.954+2T>A http://identifiers.org/clinvar/140543 ^@ NM_005857.4(ZMPSTE24):c.990C>T (p.Leu330=) http://identifiers.org/clinvar/140544 ^@ NM_213599.2(ANO5):c.-136G>C http://identifiers.org/clinvar/140545 ^@ NM_213599.2(ANO5):c.-162A>G http://identifiers.org/clinvar/140546 ^@ NM_213599.2(ANO5):c.1095A>G (p.Leu365=) http://identifiers.org/clinvar/140547 ^@ NM_213599.2(ANO5):c.138+169G>A http://identifiers.org/clinvar/140548 ^@ NM_213599.2(ANO5):c.138+206T>C http://identifiers.org/clinvar/140549 ^@ NM_213599.2(ANO5):c.1391delCinsAT (p.Ala464Aspfs) http://identifiers.org/clinvar/140550 ^@ NM_213599.2(ANO5):c.1545A>G (p.Ser515=) http://identifiers.org/clinvar/140551 ^@ NM_213599.2(ANO5):c.1630+181A>G http://identifiers.org/clinvar/140552 ^@ NM_213599.2(ANO5):c.1630+61T>G http://identifiers.org/clinvar/140553 ^@ NM_213599.2(ANO5):c.1733T>C (p.Phe578Ser) http://identifiers.org/clinvar/140554 ^@ NM_213599.2(ANO5):c.180+223G>A http://identifiers.org/clinvar/140555 ^@ NM_213599.2(ANO5):c.2018A>G (p.Tyr673Cys) http://identifiers.org/clinvar/140556 ^@ NM_213599.2(ANO5):c.2029+147A>G http://identifiers.org/clinvar/140557 ^@ NM_213599.2(ANO5):c.2520+25G>C http://identifiers.org/clinvar/140558 ^@ NM_213599.2(ANO5):c.2521-29G>A http://identifiers.org/clinvar/140559 ^@ NM_213599.2(ANO5):c.295-325A>G http://identifiers.org/clinvar/140560 ^@ NM_213599.2(ANO5):c.363+4A>G http://identifiers.org/clinvar/140561 ^@ NM_213599.2(ANO5):c.649-114T>G http://identifiers.org/clinvar/140562 ^@ NM_213599.2(ANO5):c.649-166A>G http://identifiers.org/clinvar/140563 ^@ NM_213599.2(ANO5):c.762+87G>A http://identifiers.org/clinvar/140564 ^@ NM_213599.2(ANO5):c.879-76T>A http://identifiers.org/clinvar/140571 ^@ NM_002764.3(PRPS1):c.337G>T (p.Ala113Ser) http://identifiers.org/clinvar/140572 ^@ NM_002764.3(PRPS1):c.343A>G (p.Met115Val) http://identifiers.org/clinvar/140573 ^@ NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) http://identifiers.org/clinvar/140575 ^@ NM_003896.3(ST3GAL5):c.1063G>A (p.Glu355Lys) http://identifiers.org/clinvar/140577 ^@ NM_001288953.1(TTC7A):c.727C>T (p.Gln243Ter) http://identifiers.org/clinvar/140578 ^@ NM_020458.3(TTC7A):c.1008C>G (p.Tyr336Ter) http://identifiers.org/clinvar/140579 ^@ NM_020458.3(TTC7A):c.1481delG (p.Gly494Valfs) http://identifiers.org/clinvar/140580 ^@ NM_020458.3(TTC7A):c.1673_1674insG (p.Leu559Profs) http://identifiers.org/clinvar/140581 ^@ NM_020458.3(TTC7A):c.1510+105T>A http://identifiers.org/clinvar/140582 ^@ NM_003673.3(TCAP):c.32C>A (p.Ser11Ter) http://identifiers.org/clinvar/140583 ^@ NM_000030.2(AGXT):c.33dupC (p.Lys12Glnfs) http://identifiers.org/clinvar/140584 ^@ NM_000030.2(AGXT):c.560C>T (p.Ser187Phe) http://identifiers.org/clinvar/140587 ^@ m.14766C>T http://identifiers.org/clinvar/140588 ^@ m.14783T>C http://identifiers.org/clinvar/140589 ^@ m.15043G>A http://identifiers.org/clinvar/140590 ^@ m.15287T>C http://identifiers.org/clinvar/140591 ^@ m.15301G>A http://identifiers.org/clinvar/140592 ^@ m.15326A>G http://identifiers.org/clinvar/140593 ^@ NM_004309.5(ARHGDIA):c.518G>T (p.Gly173Val) http://identifiers.org/clinvar/140594 ^@ NM_004309.5(ARHGDIA):c.358C>T (p.Arg120Ter) http://identifiers.org/clinvar/140595 ^@ NM_014003.3(DHX38):c.995G>A (p.Gly332Asp) http://identifiers.org/clinvar/140596 ^@ NM_018400.3(SCN3B):c.161T>G (p.Val54Gly) http://identifiers.org/clinvar/140597 ^@ NM_018400.3(SCN3B):c.389C>T (p.Ala130Val) http://identifiers.org/clinvar/140598 ^@ NM_018400.3(SCN3B):c.482T>C (p.Met161Thr) http://identifiers.org/clinvar/140599 ^@ NM_018400.3(SCN3B):c.17G>A (p.Arg6Lys) http://identifiers.org/clinvar/140600 ^@ NM_174934.3(SCN4B):c.485T>G (p.Val162Gly) http://identifiers.org/clinvar/140601 ^@ NM_174934.3(SCN4B):c.496A>C (p.Ile166Leu) http://identifiers.org/clinvar/140602 ^@ NM_181426.1(CCDC39):c.2540A>G (p.Glu847Gly) http://identifiers.org/clinvar/140603 ^@ NM_017950.3(CCDC40):c.2620-92C>T http://identifiers.org/clinvar/140604 ^@ NM_001369.2(DNAH5):c.5882+133A>G http://identifiers.org/clinvar/140605 ^@ NM_001369.2(DNAH5):c.11570+124G>C http://identifiers.org/clinvar/140608 ^@ NM_032822.2(FAM136A):c.226C>T (p.Gln76Ter) http://identifiers.org/clinvar/140609 ^@ NM_001198938.1(DTNA):c.1963G>T (p.Val655Phe) http://identifiers.org/clinvar/140610 ^@ NM_000406.2(GNRHR):c.392T>C (p.Met131Thr) http://identifiers.org/clinvar/140611 ^@ NM_000406.2(GNRHR):c.806C>T (p.Thr269Met) http://identifiers.org/clinvar/140612 ^@ NM_033163.3(FGF8):c.451G>A (p.Gly151Ser) http://identifiers.org/clinvar/140613 ^@ NM_033163.3(FGF8):c.237C>G (p.Leu79=) http://identifiers.org/clinvar/140614 ^@ NM_000216.3(ANOS1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/140615 ^@ NM_002085.4(GPX4):c.476+5G>A http://identifiers.org/clinvar/140616 ^@ NM_001039848.2(GPX4):c.588-8_588-4delTTTTC http://identifiers.org/clinvar/140617 ^@ NM_002085.4(GPX4):c.270C>A (p.Tyr90Ter) http://identifiers.org/clinvar/140623 ^@ NM_031229.3(RBCK1):c.553C>T (p.Gln185Ter) http://identifiers.org/clinvar/140624 ^@ NM_031229.3(RBCK1):c.121_122delCT (p.Leu41Glufs) http://identifiers.org/clinvar/140625 ^@ NM_031229.3(RBCK1):c.896_899delAGTG (p.Glu299Valfs) http://identifiers.org/clinvar/140626 ^@ NM_031229.3(RBCK1):c.1160A>G (p.Asn387Ser) http://identifiers.org/clinvar/140627 ^@ NM_031229.3(RBCK1):c.727G>T (p.Glu243Ter) http://identifiers.org/clinvar/140628 ^@ NM_031229.3(RBCK1):c.724_727dupGGCG (p.Glu243Glyfs) http://identifiers.org/clinvar/140629 ^@ NM_031229.3(RBCK1):c.790C>T (p.Gln264Ter) http://identifiers.org/clinvar/140630 ^@ NM_031229.3(RBCK1):c.697_703dupGACGAGG (p.Glu235Glyfs) http://identifiers.org/clinvar/140729 ^@ NM_012310.4(KIF4A):c.1489-8_1490delinsATAATGAAAG http://identifiers.org/clinvar/140732 ^@ NM_015599.2(PGM3):c.737A>G (p.Asn246Ser) http://identifiers.org/clinvar/140734 ^@ NM_015599.2(PGM3):c.737dupA (p.Asn246Lysfs) http://identifiers.org/clinvar/140735 ^@ NM_015599.2(PGM3):c.1352A>G (p.Gln451Arg) http://identifiers.org/clinvar/140736 ^@ NM_005429.4(VEGFC):c.571_572insTT (p.Pro191Leufs) http://identifiers.org/clinvar/140737 ^@ NM_005429.4(VEGFC):c.628C>T (p.Arg210Ter) http://identifiers.org/clinvar/140738 ^@ NM_001030001.2(RPS29):c.91A>T (p.Ile31Phe) http://identifiers.org/clinvar/140739 ^@ NM_001030001.2(RPS29):c.149T>C (p.Ile50Thr) http://identifiers.org/clinvar/140740 ^@ NM_004522.2(KIF5C):c.709G>A (p.Glu237Lys) http://identifiers.org/clinvar/140741 ^@ NM_012293.2(PXDN):c.2568delC (p.Cys857Alafs) http://identifiers.org/clinvar/140742 ^@ NM_012293.2(PXDN):c.2638C>T (p.Arg880Cys) http://identifiers.org/clinvar/140743 ^@ NM_012293.2(PXDN):c.1021C>T (p.Arg341Ter) http://identifiers.org/clinvar/140744 ^@ NM_012293.2(PXDN):c.2375_2397del23 (p.Leu792Hisfs) http://identifiers.org/clinvar/140745 ^@ NM_001301339.1(CHCHD10):c.176C>T (p.Ser59Leu) http://identifiers.org/clinvar/140750 ^@ NM_022168.3(IFIH1):c.1354G>A (p.Ala452Thr) http://identifiers.org/clinvar/140751 ^@ NM_022168.3(IFIH1):c.1114C>T (p.Leu372Phe) http://identifiers.org/clinvar/140752 ^@ NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) http://identifiers.org/clinvar/140753 ^@ NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met) http://identifiers.org/clinvar/140754 ^@ NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) http://identifiers.org/clinvar/140755 ^@ NM_152617.3(RNF168):c.391C>T (p.Arg131Ter) http://identifiers.org/clinvar/140756 ^@ NM_004360.4(CDH1):c.2264A>G (p.Tyr755Cys) http://identifiers.org/clinvar/140757 ^@ NM_000465.3(BARD1):c.1519G>A (p.Val507Met) http://identifiers.org/clinvar/140758 ^@ NM_000535.6(PMS2):c.2374G>A (p.Asp792Asn) http://identifiers.org/clinvar/140759 ^@ NM_000249.3(MLH1):c.1154G>A (p.Arg385His) http://identifiers.org/clinvar/140761 ^@ NM_000051.3(ATM):c.2193C>T (p.Tyr731=) http://identifiers.org/clinvar/140762 ^@ NM_000051.3(ATM):c.6572+12G>T http://identifiers.org/clinvar/140763 ^@ NM_000051.3(ATM):c.2639-17G>T http://identifiers.org/clinvar/140764 ^@ NM_000038.5(APC):c.1549-13A>T http://identifiers.org/clinvar/140766 ^@ NM_000051.3(ATM):c.6095+15T>C http://identifiers.org/clinvar/140767 ^@ NM_002485.4(NBN):c.2082T>G (p.Pro694=) http://identifiers.org/clinvar/140768 ^@ NM_005732.3(RAD50):c.2025C>T (p.Asp675=) http://identifiers.org/clinvar/140769 ^@ NM_000051.3(ATM):c.8419-19A>G http://identifiers.org/clinvar/140770 ^@ NM_000051.3(ATM):c.2685A>G (p.Leu895=) http://identifiers.org/clinvar/140771 ^@ NM_000465.3(BARD1):c.1568+15G>T http://identifiers.org/clinvar/140772 ^@ NM_007194.3(CHEK2):c.283C>T (p.Arg95Ter) http://identifiers.org/clinvar/140773 ^@ NM_003000.2(SDHB):c.286+2T>A http://identifiers.org/clinvar/140774 ^@ NM_000179.2(MSH6):c.3485_3487delCTG (p.Ala1162del) http://identifiers.org/clinvar/140775 ^@ NM_005591.3(MRE11):c.661A>C (p.Ser221Arg) http://identifiers.org/clinvar/140776 ^@ NM_005591.3(MRE11):c.1098+17T>C http://identifiers.org/clinvar/140777 ^@ NM_000314.6(PTEN):c.1078A>G (p.Ser360Gly) http://identifiers.org/clinvar/156230 ^@ NM_152292.4(TRMT10A):c.616G>A (p.Gly206Arg) http://identifiers.org/clinvar/156238 ^@ NM_152296.4(ATP1A3):c.2452G>A (p.Glu818Lys) http://identifiers.org/clinvar/156239 ^@ NM_001287341.1(NADK2):c.595C>T (p.Arg199Ter) http://identifiers.org/clinvar/156240 ^@ NM_024330.2(SLC27A3):c.1262-24C>T http://identifiers.org/clinvar/156241 ^@ NM_024330.2(SLC27A3):c.1545+5G>A http://identifiers.org/clinvar/156242 ^@ NM_024330.2(SLC27A3):c.1831+19G>A http://identifiers.org/clinvar/156243 ^@ NM_024330.2(SLC27A3):c.1831+1G>A http://identifiers.org/clinvar/156244 ^@ NM_024330.2(SLC27A3):c.2259+15C>A http://identifiers.org/clinvar/156245 ^@ NM_024330.2(SLC27A3):c.2260-11C>G http://identifiers.org/clinvar/156246 ^@ NM_024330.2(SLC27A3):c.572G>T (p.Gly191Val) http://identifiers.org/clinvar/156247 ^@ NM_024330.2(SLC27A3):c.1051+24C>T http://identifiers.org/clinvar/156248 ^@ NM_024330.2(SLC27A3):c.1052-24C>T http://identifiers.org/clinvar/156249 ^@ NM_005094.3(SLC27A4):c.1237G>A (p.Val413Met) http://identifiers.org/clinvar/156250 ^@ NM_005094.3(SLC27A4):c.13G>T (p.Ala5Ser) http://identifiers.org/clinvar/156251 ^@ NM_005094.3(SLC27A4):c.1440G>A (p.Lys480=) http://identifiers.org/clinvar/156252 ^@ NM_005094.3(SLC27A4):c.1462+25C>T http://identifiers.org/clinvar/156253 ^@ NM_005094.3(SLC27A4):c.1504C>T (p.Arg502Ter) http://identifiers.org/clinvar/156254 ^@ NM_005094.3(SLC27A4):c.1575C>T (p.Leu525=) http://identifiers.org/clinvar/156255 ^@ NM_005094.3(SLC27A4):c.1775-13C>T http://identifiers.org/clinvar/156256 ^@ NM_005094.3(SLC27A4):c.1881G>A (p.Pro627=) http://identifiers.org/clinvar/156257 ^@ NM_005094.3(SLC27A4):c.1904G>A (p.Arg635His) http://identifiers.org/clinvar/156258 ^@ NM_005094.3(SLC27A4):c.250G>A (p.Val84Ile) http://identifiers.org/clinvar/156259 ^@ NM_005094.3(SLC27A4):c.352C>T (p.Leu118=) http://identifiers.org/clinvar/156260 ^@ NM_005094.3(SLC27A4):c.513C>G (p.Thr171=) http://identifiers.org/clinvar/156261 ^@ NM_005094.3(SLC27A4):c.519C>T (p.Arg173=) http://identifiers.org/clinvar/156262 ^@ NM_005094.3(SLC27A4):c.523C>T (p.Arg175Trp) http://identifiers.org/clinvar/156263 ^@ NM_005094.3(SLC27A4):c.823C>T (p.Arg275Cys) http://identifiers.org/clinvar/156265 ^@ NM_002049.3(GATA1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/156266 ^@ NM_002049.3(GATA1):c.220G>C (p.Val74Leu) http://identifiers.org/clinvar/156267 ^@ NM_002049.3(GATA1):c.220+1delG http://identifiers.org/clinvar/156268 ^@ NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) http://identifiers.org/clinvar/156269 ^@ NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) http://identifiers.org/clinvar/156270 ^@ NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) http://identifiers.org/clinvar/156275 ^@ NM_000187.3(HGD):c.16-272_87+305del http://identifiers.org/clinvar/156278 ^@ NC_000014.9:g.105854468A>C http://identifiers.org/clinvar/156280 ^@ NM_139276.2(STAT3):c.1140-2A>C http://identifiers.org/clinvar/156281 ^@ NM_000053.3(ATP7B):c.2128G>A (p.Gly710Ser) http://identifiers.org/clinvar/156282 ^@ NM_000053.3(ATP7B):c.2299dupC (p.Met769Hisfs) http://identifiers.org/clinvar/156283 ^@ NM_000053.3(ATP7B):c.2332C>G (p.Arg778Gly) http://identifiers.org/clinvar/156284 ^@ NM_000053.3(ATP7B):c.2336G>A (p.Trp779Ter) http://identifiers.org/clinvar/156285 ^@ NM_000053.3(ATP7B):c.2337G>A (p.Trp779Ter) http://identifiers.org/clinvar/156287 ^@ NM_000053.3(ATP7B):c.3526G>T (p.Gly1176Ter) http://identifiers.org/clinvar/156288 ^@ NM_000069.2(CACNA1S):c.3256C>A (p.Arg1086Ser) http://identifiers.org/clinvar/156289 ^@ NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) http://identifiers.org/clinvar/156290 ^@ NM_000278.4(PAX2):c.115_120delCAGCGC (p.Gln39_Arg40del) http://identifiers.org/clinvar/156291 ^@ NM_000278.4(PAX2):c.231_232insCGGCAG (p.Ser77_Ile78insArgGln) http://identifiers.org/clinvar/156292 ^@ NM_000278.4(PAX2):c.44_46delCAG (p.Pro15_Gly16delinsArg) http://identifiers.org/clinvar/156293 ^@ NM_000278.4(PAX2):c.59delT (p.Val20Glyfs) http://identifiers.org/clinvar/156294 ^@ NM_000278.4(PAX2):c.685C>T (p.Arg229Ter) http://identifiers.org/clinvar/156295 ^@ NM_000278.4(PAX2):c.68delT (p.Leu23Profs) http://identifiers.org/clinvar/156296 ^@ NM_000278.4(PAX2):c.706C>T (p.Gln236Ter) http://identifiers.org/clinvar/156297 ^@ NM_003990.4(PAX2):c.76dupG (p.Val26Glyfs) http://identifiers.org/clinvar/156298 ^@ NM_000278.4(PAX2):c.798C>T (p.Asn266=) http://identifiers.org/clinvar/156299 ^@ NM_000278.4(PAX2):c.832delG (p.Asp278Metfs) http://identifiers.org/clinvar/156300 ^@ NM_000278.4(PAX2):c.909A>C (p.Pro303=) http://identifiers.org/clinvar/156301 ^@ NM_000278.4(PAX2):c.932C>T (p.Ala311Val) http://identifiers.org/clinvar/156302 ^@ NM_000307.4(POU3F4):c.651delG (p.Ala218Argfs) http://identifiers.org/clinvar/156303 ^@ NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) http://identifiers.org/clinvar/156304 ^@ NM_000442.4(PECAM1):c.373G>C (p.Val125Leu) http://identifiers.org/clinvar/156306 ^@ NM_000477.6(ALB):c.1013A>G (p.Asp338Gly) http://identifiers.org/clinvar/156307 ^@ NM_000477.6(ALB):c.1013A>T (p.Asp338Val) http://identifiers.org/clinvar/156308 ^@ NM_000477.6(ALB):c.1195G>C (p.Asp399His) http://identifiers.org/clinvar/156309 ^@ NM_000477.6(ALB):c.1275C>A (p.Tyr425Ter) http://identifiers.org/clinvar/156310 ^@ NM_000477.6(ALB):c.1300C>T (p.Arg434Cys) http://identifiers.org/clinvar/156311 ^@ NM_000477.6(ALB):c.1428+2T>C http://identifiers.org/clinvar/156312 ^@ NM_000477.6(ALB):c.1610delT (p.Ile537Asnfs) http://identifiers.org/clinvar/156313 ^@ NM_000477.6(ALB):c.1669G>A (p.Val557Met) http://identifiers.org/clinvar/156314 ^@ NM_000477.6(ALB):c.166C>T (p.Gln56Ter) http://identifiers.org/clinvar/156315 ^@ NM_000477.6(ALB):c.1721A>C (p.Asp574Ala) http://identifiers.org/clinvar/156316 ^@ NM_000477.6(ALB):c.1750A>G (p.Lys584Glu) http://identifiers.org/clinvar/156317 ^@ NM_000477.6(ALB):c.1786-15T>A http://identifiers.org/clinvar/156318 ^@ NM_000477.6(ALB):c.1794dupA (p.Leu599Thrfs) http://identifiers.org/clinvar/156319 ^@ NM_000477.6(ALB):c.228_229delAT (p.Val78Cysfs) http://identifiers.org/clinvar/156320 ^@ NM_000477.6(ALB):c.412C>T (p.Arg138Ter) http://identifiers.org/clinvar/156321 ^@ NM_000477.6(ALB):c.437T>A (p.Val146Glu) http://identifiers.org/clinvar/156322 ^@ NM_000477.6(ALB):c.597T>A (p.Ala199=) http://identifiers.org/clinvar/156323 ^@ NM_000477.6(ALB):c.714G>A (p.Trp238Ter) http://identifiers.org/clinvar/156324 ^@ NM_000477.6(ALB):c.802G>T (p.Glu268Ter) http://identifiers.org/clinvar/156325 ^@ NM_000486.5(AQP2):c.647C>T (p.Ser216Phe) http://identifiers.org/clinvar/156326 ^@ NM_000489.4(ATRX):c.6718C>T (p.Leu2240Phe) http://identifiers.org/clinvar/156327 ^@ NM_000492.3(CFTR):c.164+2T>A http://identifiers.org/clinvar/156328 ^@ NM_000518.4(HBB):c.435G>T (p.Lys145Asn) http://identifiers.org/clinvar/156329 ^@ NM_000552.3:c.221-977_532+7059del http://identifiers.org/clinvar/156330 ^@ NM_001127593.1(FCGR3A):c.194G>A (p.Ser65Asn) http://identifiers.org/clinvar/156331 ^@ NM_001127593.1(FCGR3A):c.316A>G (p.Ile106Val) http://identifiers.org/clinvar/156332 ^@ NM_001145026.1(PTPRQ):c.715A>G (p.Arg239Gly) http://identifiers.org/clinvar/156333 ^@ NM_001145026.1(PTPRQ):c.837T>A (p.Tyr279Ter) http://identifiers.org/clinvar/156334 ^@ NM_001146040.1(GLRA1):c.593G>C (p.Trp198Ser) http://identifiers.org/clinvar/156335 ^@ NM_001298.2(CNGA3):c.827A>G (p.Asn276Ser) http://identifiers.org/clinvar/156336 ^@ NM_004530.5(MMP2):c.1217G>A (p.Gly406Asp) http://identifiers.org/clinvar/156337 ^@ NM_004700.3(KCNQ4):c.859G>C (p.Gly287Arg) http://identifiers.org/clinvar/156338 ^@ NM_004985.4(KRAS):c.347A>G (p.Asn116Ser) http://identifiers.org/clinvar/156339 ^@ NM_004992.3(MECP2):c.1116_1201del86 (p.His372Glnfs) http://identifiers.org/clinvar/156341 ^@ NM_005609.3(PYGM):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/156342 ^@ NM_013953.3(PAX8):c.165T>G (p.His55Gln) http://identifiers.org/clinvar/156343 ^@ NM_014363.5(SACS):c.414C>G (p.Tyr138Ter) http://identifiers.org/clinvar/156344 ^@ NM_014363.5(SACS):c.5263_5264delAA (p.Lys1755Valfs) http://identifiers.org/clinvar/156345 ^@ NM_017866.5(TMEM70):c.494G>A (p.Gly165Asp) http://identifiers.org/clinvar/156346 ^@ NM_020975.4(RET):c.1896_1897delGCinsCG (p.Glu632_Leu633delinsAspVal) http://identifiers.org/clinvar/156347 ^@ NM_024598.3(USB1):c.243G>A (p.Trp81Ter) http://identifiers.org/clinvar/156348 ^@ NM_032581.3(FAM126A):c.414+1G>C http://identifiers.org/clinvar/156349 ^@ NM_000020.2(ACVRL1):c.145G>C (p.Ala49Pro) http://identifiers.org/clinvar/156350 ^@ NM_000020.2(ACVRL1):c.143G>A (p.Gly48Glu) http://identifiers.org/clinvar/156352 ^@ NM_000264.3(PTCH1):c.1093C>T (p.Gln365Ter) http://identifiers.org/clinvar/156353 ^@ NM_000553.4(WRN):c.373A>G (p.Lys125Glu) http://identifiers.org/clinvar/156357 ^@ NM_020485.4(RHCE):c.178C>A (p.Leu60Ile) http://identifiers.org/clinvar/156358 ^@ NM_020485.4(RHCE):c.307C>T (p.Pro103Ser) http://identifiers.org/clinvar/156359 ^@ NM_004577.3(PSPH):c.267delC (p.Gly90Alafs) http://identifiers.org/clinvar/156360 ^@ NM_006623.3(PHGDH):c.793G>A (p.Glu265Lys) http://identifiers.org/clinvar/156361 ^@ NM_006623.3(PHGDH):c.856G>C (p.Ala286Pro) http://identifiers.org/clinvar/156362 ^@ NM_058179.3(PSAT1):c.1023_1027delCCGGGinsAGACCT (p.Arg342Aspfs) http://identifiers.org/clinvar/156363 ^@ NM_058179.3(PSAT1):c.536C>T (p.Ser179Leu) http://identifiers.org/clinvar/156364 ^@ NM_058179.3(PSAT1):c.296C>T (p.Ala99Val) http://identifiers.org/clinvar/156365 ^@ NM_145045.4(CCDC151):c.925G>T (p.Glu309Ter) http://identifiers.org/clinvar/156366 ^@ NM_145045.4(CCDC151):c.1256C>A (p.Ser419Ter) http://identifiers.org/clinvar/156368 ^@ NM_177402.4(SYT2):c.920A>C (p.Asp307Ala) http://identifiers.org/clinvar/156369 ^@ NM_177402.4(SYT2):c.923C>T (p.Pro308Leu) http://identifiers.org/clinvar/156370 ^@ NM_004373.3(COX6A1):c.247-10_247-6delCACTC http://identifiers.org/clinvar/156371 ^@ NM_022340.3(RBSN):c.1273G>A (p.Gly425Arg) http://identifiers.org/clinvar/156374 ^@ NM_004360.4(CDH1):c.1023T>G (p.Tyr341Ter) http://identifiers.org/clinvar/156375 ^@ NC_012920.1:m.10134C>A http://identifiers.org/clinvar/156377 ^@ NM_025114.3(CEP290):c.1711+1G>A http://identifiers.org/clinvar/156378 ^@ NM_025114.3(CEP290):c.2248_2249delTT (p.Leu750Thrfs) http://identifiers.org/clinvar/156379 ^@ NM_001023570.3(IQCB1):c.1522_1523dupGA (p.Ala509Lysfs) http://identifiers.org/clinvar/156380 ^@ NM_020366.3(RPGRIP1):c.1892A>T (p.His631Leu) http://identifiers.org/clinvar/156381 ^@ NM_020366.3(RPGRIP1):c.3565_3571delCGAAGGC (p.Arg1189Glyfs) http://identifiers.org/clinvar/156382 ^@ NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) http://identifiers.org/clinvar/156383 ^@ NM_017651.4(AHI1):c.2598_2604delAGTGTAT (p.Ile866Metfs) http://identifiers.org/clinvar/156384 ^@ NM_201253.2(CRB1):c.998G>A (p.Gly333Asp) http://identifiers.org/clinvar/156385 ^@ NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) http://identifiers.org/clinvar/156386 ^@ NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) http://identifiers.org/clinvar/156387 ^@ NM_020366.3(RPGRIP1):c.832C>T (p.Arg278Ter) http://identifiers.org/clinvar/156388 ^@ NM_020366.3(RPGRIP1):c.2356C>T (p.Gln786Ter) http://identifiers.org/clinvar/156390 ^@ NM_002899.3(RBP1):c.387_400delTGGGAAGGAGTTTG (p.Lys131Glyfs) http://identifiers.org/clinvar/156391 ^@ NM_014989.5(RIMS1):c.3139delA (p.Thr1047Hisfs) http://identifiers.org/clinvar/156392 ^@ NM_153240.4(NPHP3):c.1735A>C (p.Thr579Pro) http://identifiers.org/clinvar/156393 ^@ NM_206933.2(USH2A):c.2414G>C (p.Gly805Ala) http://identifiers.org/clinvar/156394 ^@ NM_002335.3(LRP5):c.1697G>A (p.Arg566His) http://identifiers.org/clinvar/156395 ^@ NM_000272.3(NPHP1):c.625-3dupT http://identifiers.org/clinvar/156396 ^@ NM_206933.2(USH2A):c.4758+3A>G http://identifiers.org/clinvar/156397 ^@ NM_002098.5(GUCA1B):c.103G>A (p.Gly35Ser) http://identifiers.org/clinvar/156398 ^@ NM_015102.4(NPHP4):c.2360T>A (p.Val787Glu) http://identifiers.org/clinvar/156399 ^@ NM_015102.4(NPHP4):c.2198G>A (p.Gly733Asp) http://identifiers.org/clinvar/156400 ^@ NM_000135.2(FANCA):c.3066+1G>T http://identifiers.org/clinvar/156401 ^@ NM_022844.2(MYH11):c.3598A>T (p.Lys1200Ter) http://identifiers.org/clinvar/156403 ^@ NM_005859.4(PURA):c.812_814delTCT (p.Phe271del) http://identifiers.org/clinvar/156404 ^@ NM_005859.4(PURA):c.307_308delTC (p.Ser103Hisfs) http://identifiers.org/clinvar/156405 ^@ NM_005859.4(PURA):c.556C>T (p.Gln186Ter) http://identifiers.org/clinvar/156406 ^@ NM_005859.4(PURA):c.289A>G (p.Lys97Glu) http://identifiers.org/clinvar/156407 ^@ NM_005859.4(PURA):c.299T>C (p.Leu100Pro) http://identifiers.org/clinvar/156408 ^@ NM_005859.4(PURA):c.363C>G (p.Tyr121Ter) http://identifiers.org/clinvar/156409 ^@ NM_005859.4(PURA):c.783C>G (p.Tyr261Ter) http://identifiers.org/clinvar/156410 ^@ NM_005859.4(PURA):c.470T>A (p.Met157Lys) http://identifiers.org/clinvar/156411 ^@ NM_005859.4(PURA):c.265G>C (p.Ala89Pro) http://identifiers.org/clinvar/156412 ^@ NM_005859.4(PURA):c.263_265delTCG (p.Ile88_Ala89delinsThr) http://identifiers.org/clinvar/156413 ^@ NM_005859.4(PURA):c.596G>C (p.Arg199Pro) http://identifiers.org/clinvar/156414 ^@ NM_006594.4(AP4B1):c.1160_1161delCA (p.Thr387Argfs) http://identifiers.org/clinvar/156421 ^@ NM_032374.4(APOPT1):c.235C>T (p.Arg79Ter) http://identifiers.org/clinvar/156422 ^@ NM_032374.4(APOPT1):c.163-1G>A http://identifiers.org/clinvar/156423 ^@ NM_032374.4(APOPT1):c.353T>C (p.Phe118Ser) http://identifiers.org/clinvar/156424 ^@ NM_032374.4(APOPT1):c.370_372delGAA (p.Glu124del) http://identifiers.org/clinvar/156426 ^@ NM_004046.5(ATP5A1):c.962A>G (p.Tyr321Cys) http://identifiers.org/clinvar/156427 ^@ NM_000053.3(ATP7B):c.222G>C (p.Lys74Asn) http://identifiers.org/clinvar/156428 ^@ NM_000182.4(HADHA):c.2083G>A (p.Ala695Thr) http://identifiers.org/clinvar/156430 ^@ NM_000862.2(HSD3B1):c.712A>T (p.Arg238Trp) http://identifiers.org/clinvar/156431 ^@ NM_001093.3(ACACB):c.6964G>A (p.Ala2322Thr) http://identifiers.org/clinvar/156432 ^@ NM_002489.3(NDUFA4):c.77C>T (p.Ala26Val) http://identifiers.org/clinvar/156433 ^@ NM_004092.3(ECHS1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/156434 ^@ NM_004092.3(ECHS1):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/156435 ^@ NM_016417.2(GLRX5):c.129G>C (p.Glu43Asp) http://identifiers.org/clinvar/156436 ^@ NM_017547.3(FOXRED1):c.1341delC (p.Ile448Leufs) http://identifiers.org/clinvar/156437 ^@ NM_017990.4(PDPR):c.85A>G (p.Thr29Ala) http://identifiers.org/clinvar/156438 ^@ NM_153006.2(NAGS):c.505A>T (p.Met169Leu) http://identifiers.org/clinvar/156439 ^@ NM_000146.3(FTL):c.169G>A (p.Glu57Lys) http://identifiers.org/clinvar/156440 ^@ NM_000146.3(FTL):c.163T>C (p.Leu55=) http://identifiers.org/clinvar/156444 ^@ NM_001282386.1(IDH1):c.395G>A (p.Arg132His) http://identifiers.org/clinvar/156445 ^@ NM_001007565.2(TFG):c.806G>T (p.Gly269Val) http://identifiers.org/clinvar/156446 ^@ NM_006218.3(PIK3CA):c.353G>A (p.Gly118Asp) http://identifiers.org/clinvar/156447 ^@ NM_006218.3(PIK3CA):c.403G>A (p.Glu135Lys) http://identifiers.org/clinvar/156448 ^@ NM_006218.3(PIK3CA):c.652G>A (p.Glu218Lys) http://identifiers.org/clinvar/156449 ^@ NM_006218.3(PIK3CA):c.1066G>A (p.Val356Ile) http://identifiers.org/clinvar/156450 ^@ NM_006218.3(PIK3CA):c.1145G>A (p.Arg382Lys) http://identifiers.org/clinvar/156452 ^@ NM_006218.3(PIK3CA):c.1895T>G (p.Leu632Ter) http://identifiers.org/clinvar/156454 ^@ NM_001101426.3(ISPD):c.161G>C (p.Gly54Ala) http://identifiers.org/clinvar/156455 ^@ NM_001101426.3(ISPD):c.1114_1116delGTT (p.Val372del) http://identifiers.org/clinvar/156462 ^@ NM_001199138.1(NLRC4):c.1009A>T (p.Thr337Ser) http://identifiers.org/clinvar/156464 ^@ NM_015972.3(POLR1D):c.163C>G (p.Leu55Val) http://identifiers.org/clinvar/156465 ^@ NM_005094.3(SLC27A4):c.716-16C>T http://identifiers.org/clinvar/156466 ^@ NR_131224.1(H19):n.-297A>C http://identifiers.org/clinvar/156469 ^@ NM_005221.5(DLX5):c.115G>T (p.Glu39Ter) http://identifiers.org/clinvar/156471 ^@ NM_001199917.1(PGM3):c.1102_1104delGAA (p.Glu368del) http://identifiers.org/clinvar/156473 ^@ NM_002256.3(KISS1):c.220C>T (p.Pro74Ser) http://identifiers.org/clinvar/156474 ^@ NM_032551.4(KISS1R):c.937T>C (p.Tyr313His) http://identifiers.org/clinvar/156475 ^@ NM_000038.5(APC):c.3286C>T (p.Gln1096Ter) http://identifiers.org/clinvar/156476 ^@ NM_000038.5(APC):c.2107delG (p.Ala703Glnfs) http://identifiers.org/clinvar/156477 ^@ NM_000038.5(APC):c.4666delA (p.Thr1556Leufs) http://identifiers.org/clinvar/156478 ^@ NM_000038.5(APC):c.6748G>A (p.Gly2250Ser) http://identifiers.org/clinvar/156479 ^@ NM_000038.5(APC):c.3814delT (p.Ser1272Glnfs) http://identifiers.org/clinvar/156480 ^@ NM_000038.5(APC):c.1685C>T (p.Thr562Met) http://identifiers.org/clinvar/156481 ^@ NM_000038.5(APC):c.622C>A (p.Gln208Lys) http://identifiers.org/clinvar/156482 ^@ NM_000038.5(APC):c.1744-2A>G http://identifiers.org/clinvar/156483 ^@ NM_000038.5(APC):c.7550A>G (p.Tyr2517Cys) http://identifiers.org/clinvar/156484 ^@ NM_000057.3(BLM):c.3415C>T (p.Arg1139Ter) http://identifiers.org/clinvar/156485 ^@ NM_004329.2(BMPR1A):c.115_116insA (p.Ser39Tyrfs) http://identifiers.org/clinvar/156486 ^@ NM_007294.3(BRCA1):c.1767C>A (p.Ser589Arg) http://identifiers.org/clinvar/156487 ^@ NM_007294.3(BRCA1):c.144G>A (p.Met48Ile) http://identifiers.org/clinvar/156488 ^@ NM_007294.3(BRCA1):c.1666A>C (p.Lys556Gln) http://identifiers.org/clinvar/156489 ^@ NM_000059.3(BRCA2):c.6257T>C (p.Ile2086Thr) http://identifiers.org/clinvar/156490 ^@ NM_000059.3(BRCA2):c.2138A>C (p.Gln713Pro) http://identifiers.org/clinvar/156491 ^@ NM_000059.3(BRCA2):c.5035A>G (p.Thr1679Ala) http://identifiers.org/clinvar/156492 ^@ NM_000059.3(BRCA2):c.5982A>T (p.Gln1994His) http://identifiers.org/clinvar/156493 ^@ NM_000059.3(BRCA2):c.8423T>C (p.Leu2808Pro) http://identifiers.org/clinvar/156494 ^@ NM_032043.2(BRIP1):c.2364T>A (p.Asn788Lys) http://identifiers.org/clinvar/156495 ^@ NM_004360.4(CDH1):c.470T>C (p.Val157Ala) http://identifiers.org/clinvar/156496 ^@ NM_004360.4(CDH1):c.187C>T (p.Arg63Ter) http://identifiers.org/clinvar/156497 ^@ NM_004360.4(CDH1):c.2398delC (p.Arg800Alafs) http://identifiers.org/clinvar/156498 ^@ NM_004360.4(CDH1):c.1454T>G (p.Ile485Ser) http://identifiers.org/clinvar/156499 ^@ NM_004360.4(CDH1):c.1137G>A (p.Thr379=) http://identifiers.org/clinvar/156500 ^@ NM_007194.3(CHEK2):c.916G>A (p.Gly306Arg) http://identifiers.org/clinvar/156501 ^@ NM_007194.3(CHEK2):c.914A>G (p.Glu305Gly) http://identifiers.org/clinvar/156502 ^@ NM_000251.2(MSH2):c.2363_2364delCT (p.Thr788Serfs) http://identifiers.org/clinvar/156503 ^@ NM_000251.2(MSH2):c.1030C>A (p.Gln344Lys) http://identifiers.org/clinvar/156504 ^@ NM_000251.2(MSH2):c.2304delA (p.Glu768Aspfs) http://identifiers.org/clinvar/156505 ^@ NM_000251.2(MSH2):c.2789T>A (p.Ile930Lys) http://identifiers.org/clinvar/156506 ^@ NM_000251.2(MSH2):c.1271dupA (p.His424Glnfs) http://identifiers.org/clinvar/156507 ^@ NM_000179.2(MSH6):c.1705_1706delTT (p.Phe569Hisfs) http://identifiers.org/clinvar/156508 ^@ NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys) http://identifiers.org/clinvar/156509 ^@ NM_001128425.1(MUTYH):c.1171C>T (p.Gln391Ter) http://identifiers.org/clinvar/156510 ^@ NM_000535.6(PMS2):c.452G>A (p.Arg151His) http://identifiers.org/clinvar/156511 ^@ NM_000314.6(PTEN):c.968dupA (p.Asn323Lysfs) http://identifiers.org/clinvar/156512 ^@ NM_000314.6(PTEN):c.265C>T (p.Pro89Ser) http://identifiers.org/clinvar/156513 ^@ NM_005359.5(SMAD4):c.1547dupA (p.Ser517Glufs) http://identifiers.org/clinvar/156514 ^@ NM_000455.4(STK11):c.149T>G (p.Leu50Arg) http://identifiers.org/clinvar/156515 ^@ NM_000546.5(TP53):c.267delC (p.Ser90Profs) http://identifiers.org/clinvar/156516 ^@ NM_000546.5(TP53):c.322_324delGGT (p.Gly108del) http://identifiers.org/clinvar/156517 ^@ NM_000546.5(TP53):c.1165G>T (p.Gly389Trp) http://identifiers.org/clinvar/156518 ^@ NM_001258398.1(CCDC103):c.104G>C (p.Arg35Pro) http://identifiers.org/clinvar/156519 ^@ NM_001370.1(DNAH6):c.3167A>T (p.Asp1056Val) http://identifiers.org/clinvar/156521 ^@ NM_001481.2(GAS8):c.828C>G (p.Asn276Lys) http://identifiers.org/clinvar/156522 ^@ NM_206996.3(SPAG17):c.4445G>T (p.Arg1482Leu) http://identifiers.org/clinvar/156524 ^@ NM_007179.2(INSL6):c.262_263delCC (p.Pro88Glyfs) http://identifiers.org/clinvar/156527 ^@ NM_020765.2(UBR4):c.15272G>A (p.Arg5091His) http://identifiers.org/clinvar/156528 ^@ NM_006642.3(SDCCAG8):c.1627_1630delGATA (p.Asp543Alafs) http://identifiers.org/clinvar/156529 ^@ NM_006642.3(SDCCAG8):c.1444delA (p.Thr482Leufs) http://identifiers.org/clinvar/156530 ^@ NM_004281.3(BAG3):c.626C>A (p.Pro209Gln) http://identifiers.org/clinvar/156531 ^@ NM_005094.3(SLC27A4):c.*23C>T http://identifiers.org/clinvar/156532 ^@ NM_171998.3(RAB39B):c.503C>A (p.Thr168Lys) http://identifiers.org/clinvar/156533 ^@ NM_004975.3(KCNB1):c.1041C>A (p.Ser347Arg) http://identifiers.org/clinvar/156534 ^@ NM_004975.3(KCNB1):c.1121C>T (p.Thr374Ile) http://identifiers.org/clinvar/156535 ^@ NM_004975.3(KCNB1):c.1135G>A (p.Gly379Arg) http://identifiers.org/clinvar/156536 ^@ NM_001184.3(ATR):c.3477G>T (p.Met1159Ile) http://identifiers.org/clinvar/156537 ^@ NM_001184.3(ATR):c.6897+464C>G http://identifiers.org/clinvar/156538 ^@ NM_006702.4(PNPLA6):c.1126dupG (p.Asp376Glyfs) http://identifiers.org/clinvar/156539 ^@ NM_006702.4(PNPLA6):c.3295C>T (p.Arg1099Cys) http://identifiers.org/clinvar/156540 ^@ NC_000003.12:g.70992485_71180270del187786 http://identifiers.org/clinvar/156541 ^@ NM_032682.5(FOXP1):c.1600T>C (p.Trp534Arg) http://identifiers.org/clinvar/156542 ^@ NM_130384.2(ATRIP):c.2278C>T (p.Arg760Ter) http://identifiers.org/clinvar/156545 ^@ NM_000142.4(FGFR3):c.1637C>A (p.Thr546Lys) http://identifiers.org/clinvar/156546 ^@ NM_002860.3(ALDH18A1):c.2131delC (p.Leu711Cysfs) http://identifiers.org/clinvar/156547 ^@ NG_012258.1:g.47945_49467del1523 http://identifiers.org/clinvar/242639 ^@ NM_000751.2(CHRND):c.73G>T (p.Glu25Ter) http://identifiers.org/clinvar/242638 ^@ NM_000751.2(CHRND):c.1319A>G (p.Asp440Gly) http://identifiers.org/clinvar/156551 ^@ NM_018060.3(IARS2):c.1821G>A (p.Trp607Ter) http://identifiers.org/clinvar/156552 ^@ NM_018060.3(IARS2):c.2122G>A (p.Glu708Lys) http://identifiers.org/clinvar/156553 ^@ NM_018060.3(IARS2):c.2726C>T (p.Pro909Leu) http://identifiers.org/clinvar/156554 ^@ NM_001615.3(ACTG2):c.806_807delGCinsAA (p.Gly269Glu) http://identifiers.org/clinvar/156555 ^@ NM_001083111.1(GNRH1):c.87delA (p.Leu30Cysfs) http://identifiers.org/clinvar/156556 ^@ NM_001079855.1(GYG2):c.665G>C (p.Trp222Ser) http://identifiers.org/clinvar/156557 ^@ NM_001005336.2(DNM1):c.529G>C (p.Ala177Pro) http://identifiers.org/clinvar/156558 ^@ NM_001005336.2(DNM1):c.618G>C (p.Lys206Asn) http://identifiers.org/clinvar/156559 ^@ NM_001005336.2(DNM1):c.1076G>C (p.Gly359Ala) http://identifiers.org/clinvar/156560 ^@ NM_001126128.1(PROK2):c.70G>C (p.Ala24Pro) http://identifiers.org/clinvar/156561 ^@ NM_001126128.1(PROK2):c.101G>A (p.Cys34Tyr) http://identifiers.org/clinvar/156562 ^@ NM_144773.3(PROKR2):c.253C>T (p.Arg85Cys) http://identifiers.org/clinvar/156563 ^@ NM_144773.3(PROKR2):c.343G>A (p.Val115Met) http://identifiers.org/clinvar/156564 ^@ NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) http://identifiers.org/clinvar/156565 ^@ NM_144773.3(PROKR2):c.743G>A (p.Arg248Gln) http://identifiers.org/clinvar/156571 ^@ NM_000945.3(PPP3R1):c.4-1055_4-1051delATTAA http://identifiers.org/clinvar/156572 ^@ NM_000945.3(PPP3R1):c.-460_-459insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC http://identifiers.org/clinvar/156578 ^@ NM_022082.3(SLC17A9):c.932G>A (p.Arg311Gln) http://identifiers.org/clinvar/156579 ^@ NM_022082.3(SLC17A9):c.25C>T (p.Arg9Cys) http://identifiers.org/clinvar/156583 ^@ NM_012082.3(ZFPM2):c.1206T>A (p.Ser402Arg) http://identifiers.org/clinvar/156584 ^@ NM_012082.3(ZFPM2):c.779G>A (p.Arg260Gln) http://identifiers.org/clinvar/156586 ^@ NM_017696.2(MCM9):c.1533C>A (p.Tyr511Ter) http://identifiers.org/clinvar/156587 ^@ NM_017696.2(MCM9):c.1732+2T>C http://identifiers.org/clinvar/156588 ^@ NM_017696.2(MCM9):c.394C>T (p.Arg132Ter) http://identifiers.org/clinvar/242637 ^@ NM_130466.3(UBE3B):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/242636 ^@ NM_130466.3(UBE3B):c.1773delC (p.Gln592Serfs) http://identifiers.org/clinvar/156590 ^@ NM_003159.2(CDKL5):c.121A>T (p.Ile41Phe) http://identifiers.org/clinvar/156591 ^@ NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) http://identifiers.org/clinvar/156592 ^@ NM_003159.2(CDKL5):c.220G>T (p.Glu74Ter) http://identifiers.org/clinvar/156593 ^@ NM_003159.2(CDKL5):c.250A>T (p.Lys84Ter) http://identifiers.org/clinvar/156594 ^@ NM_003159.2(CDKL5):c.282+2T>G http://identifiers.org/clinvar/156596 ^@ NM_003159.2(CDKL5):c.351T>A (p.Tyr117Ter) http://identifiers.org/clinvar/156597 ^@ NM_003159.2(CDKL5):c.356T>G (p.Leu119Arg) http://identifiers.org/clinvar/156598 ^@ NM_003159.2(CDKL5):c.404-3C>A http://identifiers.org/clinvar/156599 ^@ NM_003159.2(CDKL5):c.404-2A>G http://identifiers.org/clinvar/156600 ^@ NM_003159.2(CDKL5):c.413C>T (p.Pro138Leu) http://identifiers.org/clinvar/156602 ^@ NM_003159.2(CDKL5):c.449A>G (p.Lys150Arg) http://identifiers.org/clinvar/156603 ^@ NM_003159.2(CDKL5):c.526T>A (p.Trp176Arg) http://identifiers.org/clinvar/156604 ^@ NM_003159.2(CDKL5):c.542A>C (p.Glu181Ala) http://identifiers.org/clinvar/156605 ^@ NM_003159.2(CDKL5):c.577G>A (p.Asp193Asn) http://identifiers.org/clinvar/156606 ^@ NM_003159.2(CDKL5):c.602T>C (p.Leu201Pro) http://identifiers.org/clinvar/156607 ^@ NM_003159.2(CDKL5):c.626C>G (p.Pro209Arg) http://identifiers.org/clinvar/156608 ^@ NM_003159.2(CDKL5):c.700C>T (p.Gln234Ter) http://identifiers.org/clinvar/156609 ^@ NM_004992.3(MECP2):c.275delG (p.Gly92Aspfs) http://identifiers.org/clinvar/156610 ^@ NM_004992.3(MECP2):c.819_820insCCGAAAGCCGGGG (p.Ser274Profs) http://identifiers.org/clinvar/156611 ^@ NM_001110792.1(MECP2):c.1043_1133del91insCTGTAAGTGCAC (p.Leu348Profs) http://identifiers.org/clinvar/156612 ^@ NM_004992.3(MECP2):c.1086delC (p.Lys363Argfs) http://identifiers.org/clinvar/156613 ^@ NM_001110792.1(MECP2):c.1121_1224del104insAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCC (p.Pro374Glnfs) http://identifiers.org/clinvar/156614 ^@ NM_004992.3(MECP2):c.1101_1106delCCACCA (p.His371_His372del) http://identifiers.org/clinvar/156615 ^@ NM_004992.3(MECP2):c.1129_1198del70 (p.Lys377Profs) http://identifiers.org/clinvar/156616 ^@ NM_004992.3(MECP2):c.1145_1171del27 (p.Leu382_Pro390del) http://identifiers.org/clinvar/156617 ^@ NM_004992.3(MECP2):c.1161_1266del106 (p.Pro388Hisfs) http://identifiers.org/clinvar/156618 ^@ NM_001110792.1(MECP2):c.1326dupC (p.Lys443Glnfs) http://identifiers.org/clinvar/156619 ^@ NM_139058.2(ARX):c.1141G>A (p.Ala381Thr) http://identifiers.org/clinvar/156620 ^@ NM_130838.1(UBE3A):c.2503C>T (p.Leu835Phe) http://identifiers.org/clinvar/156621 ^@ NM_130839.2(UBE3A):c.175C>T (p.Arg59Cys) http://identifiers.org/clinvar/156623 ^@ NM_130838.1(UBE3A):c.352A>G (p.Arg118Gly) http://identifiers.org/clinvar/156624 ^@ NM_130838.1(UBE3A):c.382C>T (p.Arg128Cys) http://identifiers.org/clinvar/156625 ^@ NM_130839.2(UBE3A):c.1305T>A (p.Asp435Glu) http://identifiers.org/clinvar/156626 ^@ NM_130839.2(UBE3A):c.2355G>A (p.Arg785=) http://identifiers.org/clinvar/156628 ^@ NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) http://identifiers.org/clinvar/156630 ^@ NM_004992.3(MECP2):c.1132G>T (p.Ala378Ser) http://identifiers.org/clinvar/156631 ^@ NM_004992.3(MECP2):c.1154C>A (p.Pro385His) http://identifiers.org/clinvar/156632 ^@ NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) http://identifiers.org/clinvar/156633 ^@ NM_004992.3(MECP2):c.1208C>T (p.Pro403Leu) http://identifiers.org/clinvar/156634 ^@ NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) http://identifiers.org/clinvar/156636 ^@ NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) http://identifiers.org/clinvar/156637 ^@ NM_003159.2(CDKL5):c.248delG (p.Gly83Glufs) http://identifiers.org/clinvar/156638 ^@ NM_003159.2(CDKL5):c.282+4delA http://identifiers.org/clinvar/156639 ^@ NM_003159.2(CDKL5):c.549_552delACTT (p.Leu184Alafs) http://identifiers.org/clinvar/156640 ^@ NM_003159.2(CDKL5):c.808dupC (p.Leu270Profs) http://identifiers.org/clinvar/156641 ^@ NM_003159.2(CDKL5):c.1345_1363del19 (p.Glu449Leufs) http://identifiers.org/clinvar/156642 ^@ NM_003159.2(CDKL5):c.1455_1460delGGCCAA (p.Ala486_Lys487del) http://identifiers.org/clinvar/156643 ^@ NM_003159.2(CDKL5):c.1671dupA (p.Arg558Thrfs) http://identifiers.org/clinvar/156644 ^@ NM_003159.2(CDKL5):c.1795dupA (p.Thr599Asnfs) http://identifiers.org/clinvar/156645 ^@ NM_003159.2(CDKL5):c.1885_1886dupTT (p.Leu629Phefs) http://identifiers.org/clinvar/156646 ^@ NM_003159.2(CDKL5):c.1909delG (p.Ala637Leufs) http://identifiers.org/clinvar/156647 ^@ NM_003159.2(CDKL5):c.2148_2149delCA (p.Tyr716Terfs) http://identifiers.org/clinvar/156648 ^@ NM_003159.2(CDKL5):c.2205_2206delAG (p.Arg735Serfs) http://identifiers.org/clinvar/156649 ^@ NM_003159.2(CDKL5):c.2254dupA (p.Arg752Lysfs) http://identifiers.org/clinvar/156650 ^@ NM_003159.2(CDKL5):c.2323_2326delGAGA (p.Glu775Serfs) http://identifiers.org/clinvar/156651 ^@ NM_003159.2(CDKL5):c.2360_2363delAGAA (p.Lys787Argfs) http://identifiers.org/clinvar/156652 ^@ NM_003159.2(CDKL5):c.2469delC (p.Glu824Argfs) http://identifiers.org/clinvar/156653 ^@ NM_003159.2(CDKL5):c.2549delA (p.Asn850Ilefs) http://identifiers.org/clinvar/156654 ^@ NM_003159.2(CDKL5):c.2608dupT (p.Ser870Phefs) http://identifiers.org/clinvar/156656 ^@ NM_001110792.1(MECP2):c.-27_-26delAG http://identifiers.org/clinvar/156657 ^@ NM_001110792.1(MECP2):c.18_23delCGCCGC (p.Ala7_Ala8del) http://identifiers.org/clinvar/156659 ^@ NM_003159.2(CDKL5):c.73G>A (p.Gly25Arg) http://identifiers.org/clinvar/156660 ^@ NM_003159.2(CDKL5):c.99+5G>A http://identifiers.org/clinvar/156661 ^@ NM_001110792.1(MECP2):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/156662 ^@ NM_004992.3(MECP2):c.-104G>C http://identifiers.org/clinvar/156663 ^@ NM_004992.3(MECP2):c.136G>A (p.Val46Met) http://identifiers.org/clinvar/156665 ^@ NM_004992.3(MECP2):c.553G>A (p.Gly185Ser) http://identifiers.org/clinvar/156666 ^@ NM_004992.3(MECP2):c.556A>T (p.Arg186Ter) http://identifiers.org/clinvar/156667 ^@ NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) http://identifiers.org/clinvar/156668 ^@ NM_004992.3(MECP2):c.605C>T (p.Ala202Val) http://identifiers.org/clinvar/156669 ^@ NM_004992.3(MECP2):c.691G>A (p.Gly231Arg) http://identifiers.org/clinvar/156670 ^@ NM_004992.3(MECP2):c.701C>G (p.Ala234Gly) http://identifiers.org/clinvar/156671 ^@ NM_004992.3(MECP2):c.879C>G (p.Ile293Met) http://identifiers.org/clinvar/156672 ^@ NM_139058.2(ARX):c.802G>T (p.Val268Leu) http://identifiers.org/clinvar/156673 ^@ NM_139058.2(ARX):c.1216G>A (p.Ala406Thr) http://identifiers.org/clinvar/156674 ^@ NM_139058.2(ARX):c.1259C>T (p.Pro420Leu) http://identifiers.org/clinvar/156675 ^@ NM_130839.2(UBE3A):c.63-5T>G http://identifiers.org/clinvar/156676 ^@ NM_003159.2(CDKL5):c.1670C>G (p.Ser557Ter) http://identifiers.org/clinvar/156677 ^@ NM_130839.2(UBE3A):c.199A>G (p.Ile67Val) http://identifiers.org/clinvar/156678 ^@ NM_130838.1(UBE3A):c.841A>G (p.Met281Val) http://identifiers.org/clinvar/156679 ^@ NM_130839.2(UBE3A):c.2420C>T (p.Thr807Met) http://identifiers.org/clinvar/156680 ^@ NM_003159.2(CDKL5):c.826-1G>C http://identifiers.org/clinvar/156681 ^@ NM_003159.2(CDKL5):c.1051G>A (p.Val351Ile) http://identifiers.org/clinvar/156682 ^@ NM_003159.2(CDKL5):c.1324C>T (p.Gln442Ter) http://identifiers.org/clinvar/156683 ^@ NM_003159.2(CDKL5):c.1500C>A (p.Asn500Lys) http://identifiers.org/clinvar/156685 ^@ NM_003159.2(CDKL5):c.1721C>T (p.Pro574Leu) http://identifiers.org/clinvar/156686 ^@ NM_003159.2(CDKL5):c.1818A>G (p.Gln606=) http://identifiers.org/clinvar/156687 ^@ NM_003159.2(CDKL5):c.1944+2T>G http://identifiers.org/clinvar/156690 ^@ NM_003159.2(CDKL5):c.2555C>T (p.Pro852Leu) http://identifiers.org/clinvar/156691 ^@ NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) http://identifiers.org/clinvar/156692 ^@ NM_003159.2(CDKL5):c.2671C>T (p.Gln891Ter) http://identifiers.org/clinvar/156693 ^@ NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) http://identifiers.org/clinvar/156694 ^@ NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) http://identifiers.org/clinvar/156695 ^@ NM_003159.2(CDKL5):c.3008T>C (p.Met1003Thr) http://identifiers.org/clinvar/156701 ^@ NM_004958.3(MTOR):c.5126G>A (p.Arg1709His) http://identifiers.org/clinvar/156702 ^@ NM_004958.3(MTOR):c.5930C>A (p.Thr1977Lys) http://identifiers.org/clinvar/156703 ^@ NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe) http://identifiers.org/clinvar/156704 ^@ NM_001105549.1(ZNF83):c.824A>C (p.His275Pro) http://identifiers.org/clinvar/156705 ^@ NM_001123376.2(TMEM72):c.413C>A (p.Ala138Asp) http://identifiers.org/clinvar/156706 ^@ NM_001164462.1(MUC12):c.8611G>A (p.Ala2871Thr) http://identifiers.org/clinvar/156707 ^@ NM_001452.1(FOXF2):c.899C>G (p.Ala300Gly) http://identifiers.org/clinvar/156708 ^@ NM_002111.8(HTT):c.110A>C (p.Gln37Pro) http://identifiers.org/clinvar/156709 ^@ NM_004958.3(MTOR):c.7255G>A (p.Glu2419Lys) http://identifiers.org/clinvar/156710 ^@ NM_005522.4(HOXA1):c.215A>C (p.His72Pro) http://identifiers.org/clinvar/156711 ^@ NM_005961.2(MUC6):c.4577A>T (p.His1526Leu) http://identifiers.org/clinvar/156712 ^@ NM_005961.2(MUC6):c.5911C>T (p.Pro1971Ser) http://identifiers.org/clinvar/156713 ^@ NM_006121.3(KRT1):c.1666G>C (p.Gly556Arg) http://identifiers.org/clinvar/156714 ^@ NM_013241.2(FHOD1):c.635C>T (p.Ala212Val) http://identifiers.org/clinvar/156715 ^@ NM_013447.3(ADGRE2):c.478C>G (p.Leu160Val) http://identifiers.org/clinvar/156716 ^@ NM_016141.3(DYNC1LI1):c.1441C>G (p.Pro481Ala) http://identifiers.org/clinvar/156717 ^@ NM_181334.5(PRR5-ARHGAP8):c.166C>A (p.Arg56Ser) http://identifiers.org/clinvar/156718 ^@ NM_001301131.1(POLR2F):c.294-27388_*10734del http://identifiers.org/clinvar/156719 ^@ NM_001301130.1(POLR2F):c.453-24294G>C http://identifiers.org/clinvar/156720 ^@ NM_001301130.1(POLR2F):c.453-24860G>A http://identifiers.org/clinvar/156721 ^@ NC_000001.11:g.1449831_1504291del54461 http://identifiers.org/clinvar/156723 ^@ NM_001110781.2(SLC35E2B):c.-40384_-148+4347del http://identifiers.org/clinvar/156724 ^@ NM_182838.2(SLC35E2):c.733-162_*35907del http://identifiers.org/clinvar/156725 ^@ NC_000001.11:g.2420707_2434877dup14171 http://identifiers.org/clinvar/156726 ^@ NC_000001.11:g.2427505_2438059dup10555 http://identifiers.org/clinvar/156727 ^@ NC_000001.11:g.3494849_3514671dup19823 http://identifiers.org/clinvar/156728 ^@ NC_000001.10:g.12880153_12913896del33744 http://identifiers.org/clinvar/156729 ^@ NC_000001.11:g.15457276_15470313del13038 http://identifiers.org/clinvar/156730 ^@ NC_000001.11:g.15467516_15487691del20176 http://identifiers.org/clinvar/156731 ^@ NC_000001.11:g.25271785_25329047del57263 http://identifiers.org/clinvar/156733 ^@ NC_000001.11:g.35902179_35922053del19875 http://identifiers.org/clinvar/156734 ^@ NC_000001.11:g.40877936_40912404dup34469 http://identifiers.org/clinvar/156736 ^@ NM_020883.1(ZSWIM5):c.595+26359_595+34536del http://identifiers.org/clinvar/156737 ^@ NC_000001.11:g.49462391_49524663del62273 http://identifiers.org/clinvar/156738 ^@ NC_000001.11:g.50397530_50409158del11629 http://identifiers.org/clinvar/156739 ^@ NM_002353.2(TACSTD2):c.-43393_*17422del http://identifiers.org/clinvar/156740 ^@ NC_000001.11:g.72545760_72620518del74759 http://identifiers.org/clinvar/156741 ^@ NC_000001.11:g.73494196_73528121dup33926 http://identifiers.org/clinvar/156742 ^@ NC_000001.11:g.94401500_94669347dup267848 http://identifiers.org/clinvar/156743 ^@ NC_000001.11:g.96970334_96988991del18658 http://identifiers.org/clinvar/156744 ^@ NC_000001.11:g.102201832_102380591del178760 http://identifiers.org/clinvar/156745 ^@ NC_000001.11:g.103587258_103668424del81167 http://identifiers.org/clinvar/156748 ^@ NC_000001.11:g.103611243_103668424del57182 http://identifiers.org/clinvar/156749 ^@ NC_000001.11:g.103611243_103613322del2080 http://identifiers.org/clinvar/156751 ^@ NC_000001.11:g.111383531_111391682del8152 http://identifiers.org/clinvar/156752 ^@ NC_000001.11:g.111383531_111401451del17921 http://identifiers.org/clinvar/156753 ^@ NC_000001.10:g.145625979_145762959del136981 http://identifiers.org/clinvar/156755 ^@ NC_000001.10:g.149039930_149201987del162058 http://identifiers.org/clinvar/156758 ^@ NC_000001.10:g.149060682_149201987del141306 http://identifiers.org/clinvar/156759 ^@ NC_000001.11:g.158783616_158907131del123516 http://identifiers.org/clinvar/156760 ^@ NM_002155.4(HSPA6):c.-1862_*5145del http://identifiers.org/clinvar/156761 ^@ NC_000001.11:g.191864689_191918605del53917 http://identifiers.org/clinvar/156762 ^@ NC_000001.11:g.193679513_193715041del35529 http://identifiers.org/clinvar/156763 ^@ NC_000001.11:g.196854170_196923192del69023 http://identifiers.org/clinvar/156764 ^@ NC_000001.11:g.196854170_196918327del64158 http://identifiers.org/clinvar/156765 ^@ NM_001201551.1(CFHR4):c.-33981_58+5231del http://identifiers.org/clinvar/156766 ^@ NC_000001.11:g.212826359_212838470del12112 http://identifiers.org/clinvar/156768 ^@ NC_000001.11:g.231573658_231727458dup153801 http://identifiers.org/clinvar/156769 ^@ NM_001164556.1(DISC1):c.-53210_67+50454dup http://identifiers.org/clinvar/156770 ^@ NM_001164556.1(DISC1):c.-51125_67+50454dup http://identifiers.org/clinvar/156771 ^@ NC_000001.11:g.236821262_236965080del143819 http://identifiers.org/clinvar/156772 ^@ NG_032046.2:g.169545_239936dup70392 http://identifiers.org/clinvar/156773 ^@ NC_000001.11:g.245473613_245484424del10812 http://identifiers.org/clinvar/156775 ^@ NM_018012.3(KIF26B):c.1166+53868_1166+59172del http://identifiers.org/clinvar/156776 ^@ NC_000002.11:g.18674_189972dup171299 http://identifiers.org/clinvar/156777 ^@ NC_000002.12:g.2860438_2913183dup52746 http://identifiers.org/clinvar/156778 ^@ NC_000002.11:g.4677905_5958997dup1281093 http://identifiers.org/clinvar/156779 ^@ NC_000002.12:g.13346653_13396647dup49995 http://identifiers.org/clinvar/156780 ^@ NC_000002.12:g.14215597_14245868dup30272 http://identifiers.org/clinvar/156781 ^@ NC_000002.12:g.35245661_35372253del126593 http://identifiers.org/clinvar/156782 ^@ NC_000002.12:g.35594620_35859993del265374 http://identifiers.org/clinvar/156783 ^@ NG_028007.1:g.80423_150708dup70286 http://identifiers.org/clinvar/156784 ^@ NC_000002.12:g.49630800_49638002del7203 http://identifiers.org/clinvar/156785 ^@ NM_001135659.2(NRXN1):c.4248+4348_4248+12181del http://identifiers.org/clinvar/156786 ^@ NC_000002.12:g.51118336_51183988del65653 http://identifiers.org/clinvar/156787 ^@ NR_135237.1(LOC730100):n.754-62628_754-62323del http://identifiers.org/clinvar/156791 ^@ NC_000002.12:g.64468759_64476152del7394 http://identifiers.org/clinvar/156792 ^@ NC_000002.12:g.76713923_76721975del8053 http://identifiers.org/clinvar/156793 ^@ NC_000002.11:g.89427986_90240473dup812488 http://identifiers.org/clinvar/156795 ^@ NC_000002.11:g.89427986_91820358dup2392373 http://identifiers.org/clinvar/156796 ^@ NC_000002.11:g.90010895_90240473dup229579 http://identifiers.org/clinvar/156797 ^@ NC_000002.11:g.90094257_90109261del15005 http://identifiers.org/clinvar/156800 ^@ NC_000002.12:g.99439044_99445701dup6658 http://identifiers.org/clinvar/156801 ^@ NC_000002.12:g.99439301_99445701dup6401 http://identifiers.org/clinvar/156803 ^@ NC_000002.12:g.123060720_123121016dup60297 http://identifiers.org/clinvar/156804 ^@ NC_000002.12:g.135214523_135473889dup259367 http://identifiers.org/clinvar/156805 ^@ NM_018557.2(LRP1B):c.344-65793_344-61550del http://identifiers.org/clinvar/156806 ^@ NC_000002.12:g.142241825_142285716del43892 http://identifiers.org/clinvar/156807 ^@ NC_000002.12:g.153307430_153342976dup35547 http://identifiers.org/clinvar/156808 ^@ NC_000002.12:g.153845295_154275106dup429812 http://identifiers.org/clinvar/156809 ^@ NM_001282805.1(MARCH7):c.-247472_-1723dup http://identifiers.org/clinvar/156810 ^@ NC_000002.12:g.183933099_183937882del4784 http://identifiers.org/clinvar/156812 ^@ NC_000002.12:g.187570916_187665851del94936 http://identifiers.org/clinvar/156813 ^@ NC_000002.12:g.200978777_201106301dup127525 http://identifiers.org/clinvar/156814 ^@ NC_000002.12:g.208170077_208185723del15647 http://identifiers.org/clinvar/156815 ^@ NC_000002.11:g.213173172_213192268del19097 http://identifiers.org/clinvar/156816 ^@ NC_000002.11:g.213183696_213192268del8573 http://identifiers.org/clinvar/156818 ^@ NC_000002.11:g.213183696_213190493del6798 http://identifiers.org/clinvar/156819 ^@ NC_000002.11:g.213187034_213191389del4356 http://identifiers.org/clinvar/156821 ^@ NC_000002.11:g.213188733_213190493del1761 http://identifiers.org/clinvar/156822 ^@ NC_000002.12:g.212770328_212792702del22375 http://identifiers.org/clinvar/156823 ^@ NC_000002.12:g.222698855_222723952del25098 http://identifiers.org/clinvar/156824 ^@ NC_000002.12:g.222933783_222958423dup24641 http://identifiers.org/clinvar/156825 ^@ NM_024795.3(TM4SF20):c.-14304_183+492dup http://identifiers.org/clinvar/156826 ^@ NC_000002.12:g.240619519_240637209dup17691 http://identifiers.org/clinvar/156828 ^@ NC_000002.11:g.242812080_243048760del236681 http://identifiers.org/clinvar/156829 ^@ NC_000002.12:g.241931649_242106609del174961 http://identifiers.org/clinvar/156831 ^@ NR_110592.1(LINC01238):n.972-495_131503del http://identifiers.org/clinvar/156834 ^@ NR_110592.1(LOC102723927):n.2507_131503del http://identifiers.org/clinvar/156835 ^@ NC_000002.12:g.241984230_242106609del122380 http://identifiers.org/clinvar/156836 ^@ NC_000003.11:g.61495_126209dup64715 http://identifiers.org/clinvar/156837 ^@ NC_000003.11:g.857325_1063826del206502 http://identifiers.org/clinvar/156838 ^@ NC_000003.12:g.1740840_1742201del1362 http://identifiers.org/clinvar/156839 ^@ NC_000003.11:g.5391554_5438374del46821 http://identifiers.org/clinvar/156840 ^@ NC_000003.12:g.8788186_8816277dup28092 http://identifiers.org/clinvar/156841 ^@ NC_000003.12:g.20535981_20542182dup6202 http://identifiers.org/clinvar/156842 ^@ NC_000003.12:g.22241799_22244070del2272 http://identifiers.org/clinvar/156844 ^@ NC_000003.12:g.28769097_28774591del5495 http://identifiers.org/clinvar/156845 ^@ NC_000003.12:g.35785215_35861393dup76179 http://identifiers.org/clinvar/156846 ^@ NM_001008392.1(CTDSPL):c.80-8666_80-2299del http://identifiers.org/clinvar/156849 ^@ NM_016329.3(SFMBT1):c.-130-31770_-130-30021del http://identifiers.org/clinvar/156852 ^@ NC_000003.11:g.62958569_62993083del34515 http://identifiers.org/clinvar/156854 ^@ NC_000003.12:g.65132272_65133087del816 http://identifiers.org/clinvar/156855 ^@ NC_000003.12:g.65206172_65228858del22687 http://identifiers.org/clinvar/156856 ^@ NC_000003.12:g.65206172_65230129del23958 http://identifiers.org/clinvar/156858 ^@ NC_000003.12:g.65206172_65220908del14737 http://identifiers.org/clinvar/156859 ^@ NC_000003.12:g.65206172_65226921del20750 http://identifiers.org/clinvar/156866 ^@ NC_000003.12:g.65220908_65226921dup6014 http://identifiers.org/clinvar/156867 ^@ NC_000003.12:g.66534498_66579341dup44844 http://identifiers.org/clinvar/156868 ^@ NC_000003.12:g.75379524_75556006del176483 http://identifiers.org/clinvar/156869 ^@ NR_031714.1(MIR1324):n.-251239_47012del http://identifiers.org/clinvar/156870 ^@ NC_000003.12:g.75379524_75420342del40819 http://identifiers.org/clinvar/156874 ^@ NG_023239.1:g.232893_265498del32606 http://identifiers.org/clinvar/156876 ^@ NC_000003.12:g.96585044_96601120del16077 http://identifiers.org/clinvar/156877 ^@ NC_000003.12:g.100632852_100719048dup86197 http://identifiers.org/clinvar/156879 ^@ NC_000003.12:g.128672946_128693181dup20236 http://identifiers.org/clinvar/156880 ^@ NC_000003.12:g.136430297_136541880dup111584 http://identifiers.org/clinvar/156881 ^@ NC_000003.12:g.149246905_149249548del2644 http://identifiers.org/clinvar/156882 ^@ NC_000003.12:g.151796802_151856498del59697 http://identifiers.org/clinvar/156883 ^@ NR_110202.1(AADACL2-AS1):n.320-53588_320-22137del http://identifiers.org/clinvar/156885 ^@ NC_000003.12:g.151958534_151963230del4697 http://identifiers.org/clinvar/156886 ^@ NC_000003.12:g.162413620_162424687del11068 http://identifiers.org/clinvar/156891 ^@ NC_000003.12:g.162413620_162421038del7419 http://identifiers.org/clinvar/156892 ^@ NC_000003.12:g.162414367_162424687dup10321 http://identifiers.org/clinvar/156893 ^@ NC_000003.12:g.163200599_163460990del260392 http://identifiers.org/clinvar/156894 ^@ NC_000003.12:g.163460990_163546098dup85109 http://identifiers.org/clinvar/156895 ^@ NC_000003.12:g.163943744_163946497del2754 http://identifiers.org/clinvar/156896 ^@ NR_125764.1(LINC01322):n.201-50931_201-19041del http://identifiers.org/clinvar/156899 ^@ NM_014932.3(NLGN1):c.-320-82616_-320-21032dup http://identifiers.org/clinvar/156900 ^@ NM_014932.3(NLGN1):c.-320-82616_-320-12230dup http://identifiers.org/clinvar/156901 ^@ NC_000003.12:g.176175294_176189554del14261 http://identifiers.org/clinvar/156902 ^@ NC_000003.12:g.186668987_186693287del24301 http://identifiers.org/clinvar/156903 ^@ NC_000003.12:g.186693287_186776633dup83347 http://identifiers.org/clinvar/156904 ^@ NM_004113.5(FGF12):c.13+132700_13+139762del http://identifiers.org/clinvar/156905 ^@ NC_000003.12:g.194505757_194525202del19446 http://identifiers.org/clinvar/156906 ^@ NC_000004.11:g.71566_134851dup63286 http://identifiers.org/clinvar/156907 ^@ NC_000004.12:g.2762361_2769045del6685 http://identifiers.org/clinvar/156908 ^@ NC_000004.12:g.10396803_10398532del1730 http://identifiers.org/clinvar/156909 ^@ NC_000004.12:g.16411476_16427207del15732 http://identifiers.org/clinvar/156911 ^@ NC_000004.12:g.22933066_23561480dup628415 http://identifiers.org/clinvar/156912 ^@ NM_018176.3(LGI2):c.-473617_-693dup http://identifiers.org/clinvar/156913 ^@ NC_000004.12:g.35148038_35149615del1578 http://identifiers.org/clinvar/156914 ^@ NC_000004.12:g.42695536_42706081del10546 http://identifiers.org/clinvar/156915 ^@ NC_000004.12:g.44974686_45000970dup26285 http://identifiers.org/clinvar/156916 ^@ NC_000004.12:g.45815310_45861251dup45942 http://identifiers.org/clinvar/156917 ^@ NC_000004.12:g.63200686_63214298del13613 http://identifiers.org/clinvar/156918 ^@ NC_000004.12:g.63272623_63284948del12326 http://identifiers.org/clinvar/156921 ^@ NC_000004.12:g.65719204_65764047dup44844 http://identifiers.org/clinvar/156922 ^@ NM_033214.2(GK2):c.-269359_*167228dup http://identifiers.org/clinvar/156923 ^@ NC_000004.12:g.79950778_80022534del71757 http://identifiers.org/clinvar/156924 ^@ NM_001025616.2(ARHGAP24):c.-186452_-21+35669dup http://identifiers.org/clinvar/156925 ^@ NM_001510.3(GRID2):c.245-219371_245-58043del http://identifiers.org/clinvar/156926 ^@ NC_000004.12:g.96387763_96470215del82453 http://identifiers.org/clinvar/156927 ^@ NC_000004.12:g.100647799_100695124del47326 http://identifiers.org/clinvar/156928 ^@ NC_000004.12:g.107144581_107160379del15799 http://identifiers.org/clinvar/156929 ^@ NM_024090.2(ELOVL6):c.-68192_89+40066dup http://identifiers.org/clinvar/156930 ^@ NC_000004.12:g.120472666_120536530del63865 http://identifiers.org/clinvar/156931 ^@ NM_198179.2(QRFPR):c.340+11600_340+16200del http://identifiers.org/clinvar/156932 ^@ NC_000004.12:g.121402957_121412610del9654 http://identifiers.org/clinvar/156933 ^@ NC_000004.12:g.128853220_129006649dup153430 http://identifiers.org/clinvar/156934 ^@ NC_000004.12:g.137182159_137269240del87082 http://identifiers.org/clinvar/156935 ^@ NC_000004.12:g.153660056_153664770del4715 http://identifiers.org/clinvar/156936 ^@ NC_000004.12:g.157509395_157558355del48961 http://identifiers.org/clinvar/156937 ^@ NC_000004.12:g.160140992_160149907del8916 http://identifiers.org/clinvar/156939 ^@ NC_000004.12:g.160668939_160725826dup56888 http://identifiers.org/clinvar/156940 ^@ NC_000004.12:g.161024150_161088373dup64224 http://identifiers.org/clinvar/156941 ^@ NC_000004.12:g.161031076_161088373dup57298 http://identifiers.org/clinvar/156942 ^@ NC_000004.12:g.161031076_161082472dup51397 http://identifiers.org/clinvar/156946 ^@ NC_000004.12:g.164655588_164665848del10261 http://identifiers.org/clinvar/156948 ^@ NC_000004.12:g.185479074_185493472del14399 http://identifiers.org/clinvar/156949 ^@ NC_000004.12:g.188212053_188237009del24957 http://identifiers.org/clinvar/156950 ^@ NC_000004.11:g.190438606_190915650dup477045 http://identifiers.org/clinvar/156951 ^@ NC_000005.10:g.788531_850931del62401 http://identifiers.org/clinvar/156952 ^@ NC_000005.10:g.788531_840602del52072 http://identifiers.org/clinvar/156953 ^@ NC_000005.10:g.788531_821611del33081 http://identifiers.org/clinvar/156954 ^@ NC_000005.10:g.788531_825223del36693 http://identifiers.org/clinvar/156955 ^@ NC_000005.10:g.7169738_7190961del21224 http://identifiers.org/clinvar/156957 ^@ NC_000005.10:g.7178531_7190961del12431 http://identifiers.org/clinvar/156958 ^@ NC_000005.10:g.7179438_7190961del11524 http://identifiers.org/clinvar/156959 ^@ NC_000005.10:g.8707907_8744445del36539 http://identifiers.org/clinvar/156963 ^@ NC_000005.10:g.8715248_8744445del29198 http://identifiers.org/clinvar/156965 ^@ NC_000005.10:g.8728762_8744445del15684 http://identifiers.org/clinvar/156966 ^@ NC_000005.10:g.9902291_9924485del22195 http://identifiers.org/clinvar/156969 ^@ NC_000005.10:g.18819837_18913028dup93192 http://identifiers.org/clinvar/156970 ^@ NC_000005.10:g.32101294_32159411dup58118 http://identifiers.org/clinvar/156972 ^@ NM_178140.2(PDZD2):c.8354-694_*51276dup http://identifiers.org/clinvar/156974 ^@ NC_000005.10:g.69461947_69532469dup70523 http://identifiers.org/clinvar/156975 ^@ NM_004536.2(NAIP):c.569-263_668+1406del http://identifiers.org/clinvar/156978 ^@ NC_000005.9:g.94264817_94316007dup51191 http://identifiers.org/clinvar/156979 ^@ NC_000005.10:g.97711949_97763616del51668 http://identifiers.org/clinvar/156980 ^@ NC_000005.10:g.97712762_97772855del60094 http://identifiers.org/clinvar/156982 ^@ NC_000005.10:g.97712762_97763616del50855 http://identifiers.org/clinvar/156985 ^@ NC_000005.10:g.97712762_97775819del63058 http://identifiers.org/clinvar/156986 ^@ NC_000005.10:g.98598184_98603912del5729 http://identifiers.org/clinvar/156987 ^@ NC_000005.10:g.99443826_99505551del61726 http://identifiers.org/clinvar/156988 ^@ NC_000005.10:g.100261825_100278897del17073 http://identifiers.org/clinvar/156989 ^@ NC_000005.10:g.104733861_105071251del337391 http://identifiers.org/clinvar/156990 ^@ NC_000005.10:g.106887835_106924986del37152 http://identifiers.org/clinvar/156991 ^@ NC_000005.10:g.110027474_110048605del21132 http://identifiers.org/clinvar/156992 ^@ NC_000005.10:g.110027474_110039779del12306 http://identifiers.org/clinvar/156993 ^@ NC_000005.10:g.113824793_113836231del11439 http://identifiers.org/clinvar/156994 ^@ NC_000005.10:g.114538439_114650526del112088 http://identifiers.org/clinvar/156995 ^@ NR_104610.1(LINC02208):n.2658-20171_2658-14266del http://identifiers.org/clinvar/156996 ^@ NG_008693.2:g.185513_191884del6372 http://identifiers.org/clinvar/156998 ^@ NC_000005.10:g.177964048_177973549del9502 http://identifiers.org/clinvar/156999 ^@ NC_000006.12:g.14839547_14845568del6022 http://identifiers.org/clinvar/157000 ^@ NC_000006.12:g.19045329_19048542del3214 http://identifiers.org/clinvar/157002 ^@ NR_038292.1(LINC01012):n.-29277_-1350dup http://identifiers.org/clinvar/157003 ^@ NM_030905.2(OR2J2):c.-46717_20023del http://identifiers.org/clinvar/157004 ^@ NR_001317.3(HCG4B):n.-1429_25883del http://identifiers.org/clinvar/157005 ^@ NC_000006.12:g.31253262_31261195del7934 http://identifiers.org/clinvar/157006 ^@ NC_000006.12:g.31370751_31373580del2830 http://identifiers.org/clinvar/157007 ^@ NR_002812.3(HCG26):n.-83887_14635dup http://identifiers.org/clinvar/157008 ^@ NM_002125.3(HLA-DRB5):c.-21004_-833del http://identifiers.org/clinvar/157009 ^@ NC_000006.12:g.48362073_48384836del22764 http://identifiers.org/clinvar/157010 ^@ NC_000006.12:g.55911787_56388992del477206 http://identifiers.org/clinvar/157011 ^@ NC_000006.12:g.55954564_55981729del27166 http://identifiers.org/clinvar/157012 ^@ NC_000006.12:g.55963929_55981729del17801 http://identifiers.org/clinvar/157013 ^@ NG_023443.2:g.511899_593266del81368 http://identifiers.org/clinvar/157014 ^@ NC_000006.12:g.65844189_65912453dup68265 http://identifiers.org/clinvar/157015 ^@ NC_000006.12:g.65883240_65912453dup29214 http://identifiers.org/clinvar/157016 ^@ NC_000006.12:g.66307601_66334538del26938 http://identifiers.org/clinvar/157017 ^@ NC_000006.12:g.66307601_66337401del29801 http://identifiers.org/clinvar/157018 ^@ NC_000006.12:g.66307601_66329847del22247 http://identifiers.org/clinvar/157021 ^@ NC_000006.12:g.83843759_83988634dup144876 http://identifiers.org/clinvar/157023 ^@ NC_000006.12:g.110075337_110089862del14526 http://identifiers.org/clinvar/157024 ^@ NC_000006.12:g.112634466_112647221dup12756 http://identifiers.org/clinvar/157025 ^@ NM_001040214.2(NKAIN2):c.55-199612_55-129556dup http://identifiers.org/clinvar/157026 ^@ NM_001040214.2(NKAIN2):c.55-187304_55-129556dup http://identifiers.org/clinvar/157027 ^@ NC_000006.12:g.128772127_128804039dup31913 http://identifiers.org/clinvar/157028 ^@ NC_000006.12:g.138588771_138608297del19527 http://identifiers.org/clinvar/157029 ^@ NC_000006.12:g.147348950_147402441dup53492 http://identifiers.org/clinvar/157030 ^@ NC_000006.12:g.147364344_147402441dup38098 http://identifiers.org/clinvar/157031 ^@ NM_005100.3(AKAP12):c.163-8647_163-5271del http://identifiers.org/clinvar/157032 ^@ NM_001145279.3(OPRM1):c.-8245_-1+9405del http://identifiers.org/clinvar/157033 ^@ NC_000006.12:g.160931666_161145877dup214212 http://identifiers.org/clinvar/157034 ^@ NC_000007.14:g.44935_63494dup18560 http://identifiers.org/clinvar/157035 ^@ NM_152744.3(SDK1):c.299-49000_299-30913del http://identifiers.org/clinvar/157036 ^@ NC_000007.14:g.9088440_9190252del101813 http://identifiers.org/clinvar/157037 ^@ NC_000007.13:g.9636392_9847642del211251 http://identifiers.org/clinvar/157038 ^@ NC_000007.13:g.9722307_9805492dup83186 http://identifiers.org/clinvar/157039 ^@ NC_000007.14:g.10779528_10905566del126039 http://identifiers.org/clinvar/157040 ^@ NC_000007.14:g.12378976_12383095del4120 http://identifiers.org/clinvar/157041 ^@ NC_000007.14:g.17386271_17413855del27585 http://identifiers.org/clinvar/157043 ^@ NC_000007.14:g.19166813_19172086del5274 http://identifiers.org/clinvar/157045 ^@ NM_001277115.1(DNAH11):c.*88_*70420dup http://identifiers.org/clinvar/157046 ^@ NG_009306.2:g.2215_22043dup19829 http://identifiers.org/clinvar/157047 ^@ NM_001077663.2(URGCP):c.15-7886_15-3360del http://identifiers.org/clinvar/157048 ^@ NC_000007.14:g.52061626_52063818dup2193 http://identifiers.org/clinvar/157049 ^@ NC_000007.13:g.52733291_52743803dup10513 http://identifiers.org/clinvar/157053 ^@ NC_000007.14:g.53130576_53138532del7957 http://identifiers.org/clinvar/157054 ^@ NC_000007.13:g.57481104_57621951dup140848 http://identifiers.org/clinvar/157055 ^@ NC_000007.13:g.61747794_62358419dup610626 http://identifiers.org/clinvar/157056 ^@ NC_000007.13:g.61747794_62838532dup1090739 http://identifiers.org/clinvar/157057 ^@ NC_000007.14:g.62533792_63268846dup735055 http://identifiers.org/clinvar/157058 ^@ NC_000007.14:g.62575192_62586730del11539 http://identifiers.org/clinvar/157059 ^@ NC_000007.14:g.76504886_76515243dup10358 http://identifiers.org/clinvar/157060 ^@ NC_000007.14:g.76514388_77008124dup493737 http://identifiers.org/clinvar/157061 ^@ NC_000007.14:g.76845597_77008124dup162528 http://identifiers.org/clinvar/157062 ^@ NM_181646.3(ZNF804B):c.108+198639_108+206656del http://identifiers.org/clinvar/157063 ^@ NC_000007.14:g.92425958_92439850del13893 http://identifiers.org/clinvar/157064 ^@ NC_000007.14:g.98304289_98528307dup224019 http://identifiers.org/clinvar/157065 ^@ NM_001193582.1(NRCAM):c.-331-26289_-331-18537del http://identifiers.org/clinvar/157066 ^@ NC_000007.14:g.109815648_109837120dup21473 http://identifiers.org/clinvar/157068 ^@ NM_001244606.1(IMMP2L):c.239+53584_239+101346del http://identifiers.org/clinvar/157069 ^@ NG_030016.1:g.41409_137628dup96220 http://identifiers.org/clinvar/157070 ^@ NC_000007.14:g.111611393_111648317del36925 http://identifiers.org/clinvar/157071 ^@ NC_000007.13:g.111433419_111630024del196606 http://identifiers.org/clinvar/157072 ^@ NG_033954.1:g.83612_102741del19130 http://identifiers.org/clinvar/157075 ^@ NG_033954.1:g.83612_92053del8442 http://identifiers.org/clinvar/157077 ^@ NC_000007.13:g.142137119_142152369del15251 http://identifiers.org/clinvar/157078 ^@ NC_000007.14:g.146096986_146099665del2680 http://identifiers.org/clinvar/157079 ^@ NG_007092.2:g.1309002_1337124dup28123 http://identifiers.org/clinvar/157080 ^@ NC_000007.14:g.150856387_150863234del6848 http://identifiers.org/clinvar/157081 ^@ NC_000007.14:g.151893200_151902418del9219 http://identifiers.org/clinvar/157082 ^@ NR_027387.1(LINC01003):n.-287356_116323dup http://identifiers.org/clinvar/157083 ^@ NC_000007.13:g.158845384_159119486dup274103 http://identifiers.org/clinvar/157084 ^@ NT_187576.1:g.377477_393747del16271 http://identifiers.org/clinvar/157085 ^@ NM_033225.5(CSMD1):c.818+66153_818+68882del http://identifiers.org/clinvar/157086 ^@ NC_000008.11:g.5705760_5730401del24642 http://identifiers.org/clinvar/157087 ^@ NC_000008.11:g.5741877_5747565del5689 http://identifiers.org/clinvar/157089 ^@ NC_000008.11:g.5741877_5750560del8684 http://identifiers.org/clinvar/157090 ^@ NC_000008.11:g.5741877_5750141del8265 http://identifiers.org/clinvar/157092 ^@ NC_000008.11:g.5741877_5750275del8399 http://identifiers.org/clinvar/157094 ^@ NC_000008.11:g.5743669_5747565del3897 http://identifiers.org/clinvar/157096 ^@ NC_000008.11:g.8725599_8730079del4481 http://identifiers.org/clinvar/157098 ^@ NM_001007090.2(C8orf48):c.-43622_*110542dup http://identifiers.org/clinvar/157099 ^@ NM_006765.3(TUSC3):c.-2796_138+12173del http://identifiers.org/clinvar/157100 ^@ NC_000008.11:g.16042179_16081673dup39495 http://identifiers.org/clinvar/157101 ^@ NC_000008.11:g.16090726_16168455del77730 http://identifiers.org/clinvar/157103 ^@ NC_000008.11:g.16405000_16410993del5994 http://identifiers.org/clinvar/157105 ^@ NM_001001924.2(MTUS1):c.2288-112_2449+390del http://identifiers.org/clinvar/157106 ^@ NM_001001924.2(MTUS1):c.2288-795_2449+390del http://identifiers.org/clinvar/157107 ^@ NM_001001924.2(MTUS1):c.2288-358_2449+390del http://identifiers.org/clinvar/157112 ^@ NC_000008.11:g.21094549_21293498del198950 http://identifiers.org/clinvar/157113 ^@ NC_000008.10:g.24604793_25028671dup423879 http://identifiers.org/clinvar/157114 ^@ NC_000008.11:g.40327353_40332030del4678 http://identifiers.org/clinvar/157116 ^@ NM_001287813.2(SNTG1):c.-27-79544_-27-75960del http://identifiers.org/clinvar/157117 ^@ NC_000008.11:g.82359160_82381637del22478 http://identifiers.org/clinvar/157119 ^@ NC_000008.11:g.83964460_83977869dup13410 http://identifiers.org/clinvar/157120 ^@ NC_000008.11:g.85911146_85978222del67077 http://identifiers.org/clinvar/157121 ^@ NC_000008.11:g.89203420_89246941del43522 http://identifiers.org/clinvar/157122 ^@ NC_000008.11:g.91116612_91168986del52375 http://identifiers.org/clinvar/157123 ^@ NC_000008.11:g.91116612_91185983del69372 http://identifiers.org/clinvar/157124 ^@ NC_000008.11:g.91116612_91171430del54819 http://identifiers.org/clinvar/157125 ^@ NC_000008.11:g.91263540_91282886del19347 http://identifiers.org/clinvar/157126 ^@ NR_036611.1:n.-8780_758del http://identifiers.org/clinvar/157127 ^@ NC_000008.11:g.136667562_136845084del177523 http://identifiers.org/clinvar/157128 ^@ NC_000008.11:g.136675987_136845084del169098 http://identifiers.org/clinvar/157129 ^@ NM_207305.4(FOXD4):c.-155989_*70213dup http://identifiers.org/clinvar/157130 ^@ NM_203447.3(DOCK8):c.1680-13684_1680-12225del http://identifiers.org/clinvar/157131 ^@ NM_153186.4(KANK1):c.-312435_-438+216dup http://identifiers.org/clinvar/157132 ^@ NC_000009.12:g.1447011_1450428del3418 http://identifiers.org/clinvar/157133 ^@ NC_000009.12:g.3628376_3747376del119001 http://identifiers.org/clinvar/157134 ^@ NM_006911.3(RLN1):c.339_*28427del http://identifiers.org/clinvar/157135 ^@ NM_002839.3(PTPRD):c.352+22804_352+51088dup http://identifiers.org/clinvar/157136 ^@ NC_000009.12:g.11414180_11463799del49620 http://identifiers.org/clinvar/157137 ^@ NC_000009.12:g.12046842_12163583del116742 http://identifiers.org/clinvar/157138 ^@ NC_000009.12:g.24502739_24515113del12375 http://identifiers.org/clinvar/157141 ^@ NC_000009.12:g.24754017_24785249del31233 http://identifiers.org/clinvar/157142 ^@ NC_000009.12:g.28309790_28342181del32392 http://identifiers.org/clinvar/157143 ^@ NC_000009.12:g.29919241_29928184dup8944 http://identifiers.org/clinvar/157144 ^@ NC_000009.12:g.30181747_30222008dup40262 http://identifiers.org/clinvar/157145 ^@ NC_000009.12:g.69485202_69500795del15594 http://identifiers.org/clinvar/157146 ^@ NG_047197.1:g.156970_159216dup2247 http://identifiers.org/clinvar/157147 ^@ NC_000009.12:g.83588331_83591428del3098 http://identifiers.org/clinvar/157151 ^@ NR_037472.1(MIR3910-1):n.-2474_315del http://identifiers.org/clinvar/157152 ^@ NM_139286.3(CDC26):c.*369_*91225dup http://identifiers.org/clinvar/157153 ^@ NM_001282658.1(CCDC3):c.-1-19898_-1-16075del http://identifiers.org/clinvar/157154 ^@ NM_001282658.1(CCDC3):c.-1-17946_-1-16075del http://identifiers.org/clinvar/157155 ^@ NC_000010.11:g.20553102_20568436del15335 http://identifiers.org/clinvar/157157 ^@ NC_000010.11:g.36620136_36660204dup40069 http://identifiers.org/clinvar/157158 ^@ NC_000010.11:g.42186685_42332503del145819 http://identifiers.org/clinvar/157159 ^@ NC_000010.11:g.44713993_44864035dup150043 http://identifiers.org/clinvar/157160 ^@ NC_000010.10:g.46283686_47703869dup1420184 http://identifiers.org/clinvar/157161 ^@ NC_000010.10:g.47049547_47940417dup890871 http://identifiers.org/clinvar/157163 ^@ NC_000010.10:g.47543322_47940417dup397096 http://identifiers.org/clinvar/157165 ^@ NC_000010.10:g.47543322_47703869dup160548 http://identifiers.org/clinvar/157166 ^@ NM_001098512.2(PRKG1):c.434-19849_434-16034del http://identifiers.org/clinvar/157167 ^@ NG_009191.2:g.786137_830589del44453 http://identifiers.org/clinvar/157168 ^@ NC_000010.11:g.55641989_55700656del58668 http://identifiers.org/clinvar/157169 ^@ NC_000010.11:g.57008559_57156999del148441 http://identifiers.org/clinvar/157170 ^@ NG_034072.1:g.1346469_1382469del36001 http://identifiers.org/clinvar/157172 ^@ NG_034072.1:g.1347355_1382469del35115 http://identifiers.org/clinvar/157174 ^@ NC_000010.11:g.76697830_76699453del1624 http://identifiers.org/clinvar/157175 ^@ NC_000010.11:g.81119963_81130424del10462 http://identifiers.org/clinvar/157178 ^@ NC_000010.11:g.81119963_81132532del12570 http://identifiers.org/clinvar/157179 ^@ NC_000010.11:g.81708902_81725269del16368 http://identifiers.org/clinvar/157180 ^@ NM_001010848.3(NRG3):c.824-173790_824-159316del http://identifiers.org/clinvar/157182 ^@ NM_017551.2(GRID1):c.520+7072_520+11519del http://identifiers.org/clinvar/157183 ^@ NC_000010.11:g.94739953_94804000del64048 http://identifiers.org/clinvar/157184 ^@ NC_000010.11:g.105858290_105921689del63400 http://identifiers.org/clinvar/157185 ^@ NC_000010.11:g.106224562_106255738del31177 http://identifiers.org/clinvar/157187 ^@ NM_030756.4(TCF7L2):c.483+46764_483+47838del http://identifiers.org/clinvar/157188 ^@ NC_000010.11:g.120320082_120334759del14678 http://identifiers.org/clinvar/157189 ^@ NC_000010.11:g.132776127_132855959dup79833 http://identifiers.org/clinvar/157190 ^@ NC_000010.11:g.133403671_133556028dup152358 http://identifiers.org/clinvar/157191 ^@ NC_000010.11:g.133438843_133565298dup126456 http://identifiers.org/clinvar/157193 ^@ NC_000011.10:g.264391_396308dup131918 http://identifiers.org/clinvar/157194 ^@ NC_000011.10:g.394005_419906dup25902 http://identifiers.org/clinvar/157195 ^@ NC_000011.10:g.8937473_8943391del5919 http://identifiers.org/clinvar/157196 ^@ NC_000011.10:g.18114095_18116606del2512 http://identifiers.org/clinvar/157197 ^@ NM_147199.3(MRGPRX1):c.-359_*6143del http://identifiers.org/clinvar/157198 ^@ NC_000011.10:g.25690753_25699159del8407 http://identifiers.org/clinvar/157200 ^@ NM_001752.3(CAT):c.-2331_66+85dup http://identifiers.org/clinvar/157201 ^@ NM_001752.3(CAT):c.-2331_66+78dup http://identifiers.org/clinvar/157202 ^@ NC_000011.10:g.37746927_37870122dup123196 http://identifiers.org/clinvar/157203 ^@ NC_000011.10:g.42129679_42164299dup34621 http://identifiers.org/clinvar/157204 ^@ NC_000011.9:g.49977336_50668400dup691065 http://identifiers.org/clinvar/157205 ^@ NM_001004708.1(OR4D6):c.-19514_20175del http://identifiers.org/clinvar/157206 ^@ NC_000011.10:g.67606198_67820541dup214344 http://identifiers.org/clinvar/157207 ^@ NM_001267803.1(PAAF1):c.*451_*70114dup http://identifiers.org/clinvar/157208 ^@ NC_000011.10:g.81787110_81806219del19110 http://identifiers.org/clinvar/157209 ^@ NC_000011.10:g.81792950_81806219del13270 http://identifiers.org/clinvar/157210 ^@ NC_000011.10:g.81792950_81815531del22582 http://identifiers.org/clinvar/157214 ^@ NC_000011.10:g.81794421_81806219del11799 http://identifiers.org/clinvar/157216 ^@ NC_000011.10:g.83147625_83165228dup17604 http://identifiers.org/clinvar/157217 ^@ NG_051805.1:g.2382_13134dup10753 http://identifiers.org/clinvar/157218 ^@ NM_000842.4(GRM5):c.1147+5785_1147+13628del http://identifiers.org/clinvar/157219 ^@ NC_000011.10:g.96458840_96510730dup51891 http://identifiers.org/clinvar/157220 ^@ NC_000011.9:g.97852498_98523074del670577 http://identifiers.org/clinvar/157221 ^@ NG_047156.1:g.490701_687983dup http://identifiers.org/clinvar/157222 ^@ NM_175566.2(CNTN5):c.55+98126_55+139782del http://identifiers.org/clinvar/157223 ^@ NC_000011.10:g.104495361_104501590del6230 http://identifiers.org/clinvar/157224 ^@ NG_028201.2:g.13127_19898del6772 http://identifiers.org/clinvar/157225 ^@ NC_000011.10:g.107782355_107812870dup30516 http://identifiers.org/clinvar/157226 ^@ NC_000011.10:g.107788298_107799502dup11205 http://identifiers.org/clinvar/157227 ^@ NC_000011.10:g.109241055_109286055del45001 http://identifiers.org/clinvar/157228 ^@ NC_000011.10:g.120686634_120759743del73110 http://identifiers.org/clinvar/157230 ^@ NC_000011.10:g.122815420_122878506del63087 http://identifiers.org/clinvar/157231 ^@ NC_000011.10:g.134478080_134850279dup372200 http://identifiers.org/clinvar/157232 ^@ NM_000719.6(CACNA1C):c.477+16040_477+23328del http://identifiers.org/clinvar/157236 ^@ NC_000012.12:g.7777575_7993566dup215992 http://identifiers.org/clinvar/157237 ^@ NC_000012.12:g.7777575_7949790dup172216 http://identifiers.org/clinvar/157238 ^@ NC_000012.12:g.7840720_7973149dup132430 http://identifiers.org/clinvar/157239 ^@ NC_000012.12:g.7848316_7961833dup113518 http://identifiers.org/clinvar/157240 ^@ NC_000012.12:g.7851162_7970710del119549 http://identifiers.org/clinvar/157241 ^@ NC_000012.12:g.15849688_15865952del16265 http://identifiers.org/clinvar/157242 ^@ NC_000012.12:g.16142127_16328015del185889 http://identifiers.org/clinvar/157243 ^@ NM_006446.4(SLCO1B1):c.-61-1114_84+4110dup http://identifiers.org/clinvar/157244 ^@ NM_001145728.2(LMNTD1):c.*22+2227_*22+7996del http://identifiers.org/clinvar/157245 ^@ NC_000012.12:g.31106438_31262270dup155833 http://identifiers.org/clinvar/157246 ^@ NC_000012.12:g.31106438_31253973dup147536 http://identifiers.org/clinvar/157247 ^@ NC_000012.12:g.31106438_31256844dup150407 http://identifiers.org/clinvar/157248 ^@ NC_000012.12:g.31106438_31256645dup150208 http://identifiers.org/clinvar/157250 ^@ NC_000012.12:g.31113353_31255762dup142410 http://identifiers.org/clinvar/157251 ^@ NC_000012.12:g.31113353_31253973dup140621 http://identifiers.org/clinvar/157252 ^@ NM_005555.3(KRT6B):c.-14123_-90del http://identifiers.org/clinvar/157253 ^@ NM_005555.3(KRT6B):c.-16752_-90del http://identifiers.org/clinvar/157254 ^@ NM_178539.4(FAM19A2):c.-1-11362_-1-8510del http://identifiers.org/clinvar/157255 ^@ NC_000012.12:g.63548869_63724778dup175910 http://identifiers.org/clinvar/157256 ^@ NM_001199302.1(CNOT2):c.48+7810_48+9760del http://identifiers.org/clinvar/157257 ^@ NM_001199302.1(CNOT2):c.48+8339_48+9760del http://identifiers.org/clinvar/157258 ^@ NC_000012.12:g.79761820_79766450dup4631 http://identifiers.org/clinvar/157259 ^@ NM_001320322.1(TMTC2):c.84-78853_84-44447del http://identifiers.org/clinvar/157260 ^@ NM_152788.4(ANKS1B):c.1272+40072_1272+46159del http://identifiers.org/clinvar/157261 ^@ NC_000012.12:g.109115044_109274670dup159627 http://identifiers.org/clinvar/157262 ^@ NG_028199.1:g.32059_92875dup60817 http://identifiers.org/clinvar/157263 ^@ NC_000012.12:g.128742228_128781951dup39724 http://identifiers.org/clinvar/157264 ^@ NC_000012.12:g.128744329_128749559del5231 http://identifiers.org/clinvar/157266 ^@ NC_000012.12:g.131246190_131340580del94391 http://identifiers.org/clinvar/157267 ^@ NC_000013.11:g.19895931_19935819dup39889 http://identifiers.org/clinvar/157268 ^@ NC_000013.11:g.22782997_22941414dup158418 http://identifiers.org/clinvar/157269 ^@ NC_000013.11:g.22972099_22979379del7281 http://identifiers.org/clinvar/157270 ^@ NC_000013.11:g.26440969_26443305del2337 http://identifiers.org/clinvar/157271 ^@ NM_001286272.1(TPT1):c.*1472_*277473dup http://identifiers.org/clinvar/157272 ^@ NC_000013.11:g.58019523_58024897del5375 http://identifiers.org/clinvar/157274 ^@ NR_046946.1(RNU6-81P):n.-14115_29574dup http://identifiers.org/clinvar/157275 ^@ NC_000013.11:g.68665989_68693849del27861 http://identifiers.org/clinvar/157277 ^@ NC_000013.11:g.68672890_68693849del20960 http://identifiers.org/clinvar/157279 ^@ NC_000013.11:g.68672890_68702607del29718 http://identifiers.org/clinvar/157282 ^@ NM_001286725.1(KLHL1):c.498-42937_498-30292del http://identifiers.org/clinvar/157283 ^@ NC_000013.11:g.70170750_70204085del33336 http://identifiers.org/clinvar/157284 ^@ NC_000013.11:g.80117217_80122297dup5081 http://identifiers.org/clinvar/157285 ^@ NC_000013.11:g.81345067_81378015dup32949 http://identifiers.org/clinvar/157286 ^@ NC_000013.11:g.83214607_83217480del2874 http://identifiers.org/clinvar/157287 ^@ NC_000013.11:g.83214607_83219840del5234 http://identifiers.org/clinvar/157288 ^@ NC_000013.11:g.83529572_83583792del54221 http://identifiers.org/clinvar/157290 ^@ NC_000013.11:g.85294188_85330291dup36104 http://identifiers.org/clinvar/157291 ^@ NC_000013.11:g.89118130_89187985del69856 http://identifiers.org/clinvar/157292 ^@ NC_000013.10:g.90387429_90490883dup103455 http://identifiers.org/clinvar/157293 ^@ NM_005845.4(ABCC4):c.-82315_74+19835dup http://identifiers.org/clinvar/157294 ^@ NM_005845.4(ABCC4):c.-29819_74+19835dup http://identifiers.org/clinvar/157295 ^@ NC_000013.11:g.95347485_95383629dup36145 http://identifiers.org/clinvar/157296 ^@ NM_000452.2(SLC10A2):c.920-603_*9014dup http://identifiers.org/clinvar/157297 ^@ NC_000013.11:g.105674274_106213814dup539541 http://identifiers.org/clinvar/157298 ^@ NC_000014.8:g.19327823_20426742dup1098920 http://identifiers.org/clinvar/157299 ^@ NC_000014.8:g.19327823_20626291dup1298469 http://identifiers.org/clinvar/157300 ^@ NC_000014.9:g.20903615_20925130del21516 http://identifiers.org/clinvar/157301 ^@ NC_000014.8:g.22376027_22737977del361951 http://identifiers.org/clinvar/157302 ^@ NC_000014.8:g.22719680_22795126del75447 http://identifiers.org/clinvar/157303 ^@ NM_001277864.1(DHRS4L1):c.-23423_-119+7390del http://identifiers.org/clinvar/157305 ^@ NC_000014.9:g.34641306_34691654del50349 http://identifiers.org/clinvar/157306 ^@ NC_000014.9:g.40385828_40389224del3397 http://identifiers.org/clinvar/157307 ^@ NC_000014.9:g.41384306_41415245del30940 http://identifiers.org/clinvar/157308 ^@ NR_102701.1(LINC00871):n.232+68453_232+78561del http://identifiers.org/clinvar/157309 ^@ NC_000014.9:g.58304914_58332643dup27730 http://identifiers.org/clinvar/157310 ^@ NC_000014.9:g.62187980_62268148del80169 http://identifiers.org/clinvar/157311 ^@ NC_000014.9:g.85818410_85843820del25411 http://identifiers.org/clinvar/157312 ^@ NC_000014.9:g.85821003_85843820del22818 http://identifiers.org/clinvar/157313 ^@ NC_000014.9:g.85821003_85866573del45571 http://identifiers.org/clinvar/157316 ^@ NC_000014.9:g.85992070_86015044del22975 http://identifiers.org/clinvar/157317 ^@ NC_000014.9:g.85994571_86015044del20474 http://identifiers.org/clinvar/157318 ^@ NC_000014.9:g.87933144_87953014del19871 http://identifiers.org/clinvar/157319 ^@ NC_000014.9:g.90292547_90335706dup43160 http://identifiers.org/clinvar/157320 ^@ NC_000014.9:g.90322590_90335706dup13117 http://identifiers.org/clinvar/157324 ^@ NC_000014.8:g.105951611_107287663dup1336053 http://identifiers.org/clinvar/157325 ^@ NC_000014.8:g.105998544_107287663dup1289120 http://identifiers.org/clinvar/157326 ^@ NC_000014.8:g.106326623_106866163dup539541 http://identifiers.org/clinvar/157327 ^@ NC_000015.9:g.20612840_22652330dup2039491 http://identifiers.org/clinvar/157328 ^@ NC_000015.9:g.23077857_23114374del36518 http://identifiers.org/clinvar/157329 ^@ NC_000015.9:g.23084443_23114374del29932 http://identifiers.org/clinvar/157330 ^@ NC_000015.10:g.23810341_23816350del6010 http://identifiers.org/clinvar/157332 ^@ NR_026647.1(PWRN2):n.-56949_57842del http://identifiers.org/clinvar/157333 ^@ NC_000015.10:g.24349669_24497505dup147837 http://identifiers.org/clinvar/157334 ^@ NC_000015.10:g.24349669_24422860dup73192 http://identifiers.org/clinvar/157336 ^@ NC_000015.10:g.24361585_24422860dup61276 http://identifiers.org/clinvar/157337 ^@ NR_003296.1(SNORD115-4):n.-1001_8265del http://identifiers.org/clinvar/157338 ^@ NC_000015.10:g.30077711_30797323del719613 http://identifiers.org/clinvar/157339 ^@ NC_000015.10:g.32217691_32222140dup4450 http://identifiers.org/clinvar/157340 ^@ NC_000015.10:g.34468447_34508394del39948 http://identifiers.org/clinvar/157342 ^@ NC_000015.10:g.35216947_35270381del53435 http://identifiers.org/clinvar/157343 ^@ NR_038251.1(DPH6-AS1):n.462+30243_462+32397del http://identifiers.org/clinvar/157344 ^@ NC_000015.10:g.37145047_37209649del64603 http://identifiers.org/clinvar/157345 ^@ NM_139265.3(EHD4):c.*803_*33733dup http://identifiers.org/clinvar/157346 ^@ NC_000015.10:g.43601620_43647444del45825 http://identifiers.org/clinvar/157348 ^@ NC_000015.10:g.53226269_53300821dup74553 http://identifiers.org/clinvar/157349 ^@ NC_000015.10:g.61395441_61400319del4879 http://identifiers.org/clinvar/157350 ^@ NM_001104554.1(PAQR5):c.*88_*39158dup http://identifiers.org/clinvar/157351 ^@ NC_000015.10:g.81685124_81795773dup110650 http://identifiers.org/clinvar/157352 ^@ NC_000015.10:g.85968459_85978252del9794 http://identifiers.org/clinvar/157353 ^@ NC_000015.10:g.87287915_87326793del38879 http://identifiers.org/clinvar/157354 ^@ NM_001001674.1(OR4F15):c.-19963_8460dup http://identifiers.org/clinvar/157355 ^@ NG_011812.1:g.117013_131708del14696 http://identifiers.org/clinvar/157356 ^@ NC_000016.10:g.12593060_12636793del43734 http://identifiers.org/clinvar/157357 ^@ NR_037466.1(MIR3180-4):n.-250198_93962del http://identifiers.org/clinvar/157358 ^@ NC_000016.10:g.20510474_20521192del10719 http://identifiers.org/clinvar/157359 ^@ NC_000016.10:g.20904964_20975184del70221 http://identifiers.org/clinvar/157360 ^@ NC_000016.10:g.22424490_22691448del266959 http://identifiers.org/clinvar/157361 ^@ NC_000016.10:g.28592568_28609431dup16864 http://identifiers.org/clinvar/157362 ^@ NM_001310136.1(NPIPB8):c.121-142529_121-137020dup http://identifiers.org/clinvar/157363 ^@ NC_000016.10:g.31209548_31215370del5823 http://identifiers.org/clinvar/157364 ^@ NC_000016.9:g.32165782_33795687del1629906 http://identifiers.org/clinvar/157365 ^@ NC_000016.9:g.32165782_33557021del1391240 http://identifiers.org/clinvar/157366 ^@ NC_000016.9:g.32608438_33557021del948584 http://identifiers.org/clinvar/157367 ^@ NC_000016.10:g.32597117_32637648del40532 http://identifiers.org/clinvar/157368 ^@ NC_000016.10:g.35069552_35582805dup513254 http://identifiers.org/clinvar/157369 ^@ NC_000016.10:g.63486872_63548847del61976 http://identifiers.org/clinvar/157370 ^@ NC_000016.10:g.72689714_72751404del61691 http://identifiers.org/clinvar/157371 ^@ NC_000016.10:g.75537351_75547087dup9737 http://identifiers.org/clinvar/157372 ^@ NC_000016.10:g.79218427_79239785del21359 http://identifiers.org/clinvar/157373 ^@ NM_001164405.1(BHLHA9):c.-56867_66089del http://identifiers.org/clinvar/157374 ^@ NC_000017.11:g.3602749_3678945del76197 http://identifiers.org/clinvar/157375 ^@ NC_000017.11:g.6388017_6406035dup18019 http://identifiers.org/clinvar/157376 ^@ NC_000017.11:g.6392639_6408947dup16309 http://identifiers.org/clinvar/157377 ^@ NC_000017.11:g.6398242_6408077dup9836 http://identifiers.org/clinvar/157378 ^@ NC_000017.11:g.19606768_19616131del9364 http://identifiers.org/clinvar/157379 ^@ NM_015194.2(MYO1D):c.2865-44956_2865-37036del http://identifiers.org/clinvar/157380 ^@ NM_144682.5(SLFN13):c.2109_*83579del http://identifiers.org/clinvar/157383 ^@ NT_187614.1:g.363601_383924dup20324 http://identifiers.org/clinvar/157384 ^@ NC_000017.10:g.44131767_44580136dup448370 http://identifiers.org/clinvar/157385 ^@ NC_000017.11:g.46084075_46502770dup418696 http://identifiers.org/clinvar/157386 ^@ NC_000017.11:g.46084075_46290846dup206772 http://identifiers.org/clinvar/157387 ^@ NC_000017.11:g.46092442_46290846dup198405 http://identifiers.org/clinvar/157388 ^@ NC_000017.11:g.46092442_46502770dup410329 http://identifiers.org/clinvar/157394 ^@ NC_000017.10:g.50949615_51314354del364740 http://identifiers.org/clinvar/157396 ^@ NC_000017.11:g.56083104_56094916del11813 http://identifiers.org/clinvar/157399 ^@ NG_046948.1:g.10588_38632del28045 http://identifiers.org/clinvar/157400 ^@ NC_000017.11:g.66387958_66508526del120569 http://identifiers.org/clinvar/157401 ^@ NM_002737.2(PRKCA):c.206-81404_206-10168del http://identifiers.org/clinvar/157402 ^@ NG_029809.1:g.20590_36033del15444 http://identifiers.org/clinvar/157403 ^@ NC_000017.11:g.79369452_79395919dup26468 http://identifiers.org/clinvar/157404 ^@ NC_000017.11:g.79371616_79400400dup28785 http://identifiers.org/clinvar/157405 ^@ NC_000017.11:g.79371616_79397955dup26340 http://identifiers.org/clinvar/157407 ^@ NC_000018.10:g.1725757_1841468del115712 http://identifiers.org/clinvar/157408 ^@ NC_000018.10:g.1725757_1839338del113582 http://identifiers.org/clinvar/157409 ^@ NC_000018.10:g.10433385_10439156dup5772 http://identifiers.org/clinvar/157410 ^@ NM_022068.3(PIEZO2):c.287-8763_287-2437del http://identifiers.org/clinvar/157411 ^@ NM_022068.3(PIEZO2):c.287-12958_287-4344del http://identifiers.org/clinvar/157412 ^@ NC_000018.10:g.30235355_30236003del649 http://identifiers.org/clinvar/157413 ^@ NC_000018.10:g.33322025_33429787dup107763 http://identifiers.org/clinvar/157414 ^@ NM_001144967.2(NEDD4L):c.297+16701_297+17823del http://identifiers.org/clinvar/157415 ^@ NC_000018.10:g.60434632_60453040del18409 http://identifiers.org/clinvar/157416 ^@ NC_000018.10:g.65529212_65551550dup22339 http://identifiers.org/clinvar/157417 ^@ NC_000018.10:g.66182443_66199550dup17108 http://identifiers.org/clinvar/157418 ^@ NC_000018.10:g.66241835_66245461del3627 http://identifiers.org/clinvar/157419 ^@ NC_000018.10:g.67581284_68022952dup441669 http://identifiers.org/clinvar/157420 ^@ NC_000018.10:g.69080331_69088271del7941 http://identifiers.org/clinvar/157423 ^@ NM_152721.5(DOK6):c.67-22582_67-14452del http://identifiers.org/clinvar/157427 ^@ NC_000019.10:g.1781880_1792998del11119 http://identifiers.org/clinvar/157428 ^@ NC_000019.10:g.5563331_5606248del42918 http://identifiers.org/clinvar/157429 ^@ NC_000019.10:g.6958123_7018858del60736 http://identifiers.org/clinvar/157430 ^@ NC_000019.9:g.20626179_20707568del81390 http://identifiers.org/clinvar/157433 ^@ NC_000019.9:g.20657781_20707568del49788 http://identifiers.org/clinvar/157434 ^@ NC_000019.9:g.20663314_20707568del44255 http://identifiers.org/clinvar/157435 ^@ NC_000019.9:g.20682055_20707568del25514 http://identifiers.org/clinvar/157436 ^@ NC_000019.9:g.20691114_20707568del16455 http://identifiers.org/clinvar/157440 ^@ NR_024561.1(HPN-AS1):n.-40_43+9498del http://identifiers.org/clinvar/157441 ^@ NR_024561.1(HPN-AS1):n.-3335_43+9498del http://identifiers.org/clinvar/157442 ^@ NC_000019.10:g.40844990_40873243dup28254 http://identifiers.org/clinvar/157443 ^@ NM_000762.5(CYP2A6):c.-22817_-420del http://identifiers.org/clinvar/157446 ^@ NC_000019.9:g.43270565_43699208del428644 http://identifiers.org/clinvar/157447 ^@ NC_000019.9:g.43328006_43556843del228838 http://identifiers.org/clinvar/157448 ^@ NC_000019.9:g.43328006_43537378del209373 http://identifiers.org/clinvar/157449 ^@ NC_000019.9:g.43328006_43559330del231325 http://identifiers.org/clinvar/157451 ^@ NC_000019.9:g.43371294_43699208del327915 http://identifiers.org/clinvar/157452 ^@ NC_000019.9:g.43372386_43468660del96275 http://identifiers.org/clinvar/157453 ^@ NC_000019.9:g.43372386_43802290del429905 http://identifiers.org/clinvar/157454 ^@ NC_000019.10:g.43131532_43195056del63525 http://identifiers.org/clinvar/157455 ^@ NC_000019.10:g.43162545_43331618del169074 http://identifiers.org/clinvar/157456 ^@ NM_001025778.1(VRK3):c.-376583_-65+1628dup http://identifiers.org/clinvar/157457 ^@ NC_000019.10:g.50757732_50760253dup2522 http://identifiers.org/clinvar/157458 ^@ NM_001005738.1(FPR2):c.*290_*344331dup http://identifiers.org/clinvar/157459 ^@ NM_021156.3(TMX4):c.*826_*5132dup http://identifiers.org/clinvar/157460 ^@ NC_000020.11:g.12826368_12908666dup82299 http://identifiers.org/clinvar/157461 ^@ NM_080676.5(MACROD2):c.418+128756_418+265581del http://identifiers.org/clinvar/157462 ^@ NC_000020.11:g.33218782_33226542del7761 http://identifiers.org/clinvar/157463 ^@ NC_000020.10:g.37026342_37045533dup19192 http://identifiers.org/clinvar/157464 ^@ NC_000020.11:g.45722782_45749534del26753 http://identifiers.org/clinvar/157465 ^@ NC_000020.11:g.60381103_60387318dup6216 http://identifiers.org/clinvar/157466 ^@ NM_002531.2(NTSR1):c.*2254_*20847del http://identifiers.org/clinvar/157467 ^@ NC_000021.9:g.10599016_10684924del85909 http://identifiers.org/clinvar/157468 ^@ NC_000021.9:g.20543803_20546102del2300 http://identifiers.org/clinvar/157469 ^@ NC_000021.8:g.24020223_24043069del22847 http://identifiers.org/clinvar/157470 ^@ NC_000021.8:g.35027142_35056247del29106 http://identifiers.org/clinvar/157471 ^@ NC_000021.9:g.43401987_43433979dup31993 http://identifiers.org/clinvar/157472 ^@ NR_024159.1(DGCR9):n.-160715_2762del http://identifiers.org/clinvar/157473 ^@ NC_000022.10:g.22314463_22573637dup259175 http://identifiers.org/clinvar/157474 ^@ NC_000022.10:g.25629682_25998204dup368523 http://identifiers.org/clinvar/157475 ^@ NC_000022.10:g.25669569_25914593del245025 http://identifiers.org/clinvar/157476 ^@ NR_033733.1:n.-11635_-170del http://identifiers.org/clinvar/157480 ^@ NM_152426.3(APOBEC3D):c.*598_*17235del http://identifiers.org/clinvar/157481 ^@ NC_000022.11:g.39653405_39669317del15913 http://identifiers.org/clinvar/157494 ^@ NM_001018005.1(TPM1):c.564-103G>A http://identifiers.org/clinvar/157495 ^@ NM_001018005.1(TPM1):c.620delT (p.Leu207Argfs) http://identifiers.org/clinvar/157496 ^@ NM_001018005.1(TPM1):c.639+81A>T http://identifiers.org/clinvar/157497 ^@ NM_001813.2(CENPE):c.2797G>A (p.Asp933Asn) http://identifiers.org/clinvar/157498 ^@ NM_001813.2(CENPE):c.4063A>G (p.Lys1355Glu) http://identifiers.org/clinvar/157499 ^@ NM_005228.4(EGFR):c.1283G>A (p.Gly428Asp) http://identifiers.org/clinvar/157500 ^@ NM_005740.2(DNAL4):c.153+2T>C http://identifiers.org/clinvar/157508 ^@ NM_001145306.1(CDK6):c.589G>A (p.Ala197Thr) http://identifiers.org/clinvar/157509 ^@ NM_007074.3(CORO1A):c.1078delC (p.Gln360Argfs) http://identifiers.org/clinvar/157510 ^@ NM_021994.2(ZNF277):c.466-2289_557+1772del http://identifiers.org/clinvar/157511 ^@ NM_014241.3(HACD1):c.744C>A (p.Tyr248Ter) http://identifiers.org/clinvar/157512 ^@ NM_023073.3(C5orf42):c.3150-1G>T http://identifiers.org/clinvar/157513 ^@ NM_023073.3(C5orf42):c.493delA (p.Ile165Tyrfs) http://identifiers.org/clinvar/157514 ^@ NM_023073.3(C5orf42):c.3290-2A>G http://identifiers.org/clinvar/157515 ^@ NM_023073.3(C5orf42):c.3380C>T (p.Ser1127Leu) http://identifiers.org/clinvar/157516 ^@ NM_023073.3(C5orf42):c.3859G>C (p.Asp1287His) http://identifiers.org/clinvar/157517 ^@ NM_182480.2(COQ6):c.547G>C (p.Asp183His) http://identifiers.org/clinvar/157518 ^@ NM_004064.4(CDKN1B):c.127delCinsTAA (p.Arg43Terfs) http://identifiers.org/clinvar/157519 ^@ NM_004064.4(CDKN1B):c.279_280insT (p.Pro94Serfs) http://identifiers.org/clinvar/157520 ^@ NM_004064.4(CDKN1B):c.334delA (p.Ser112Alafs) http://identifiers.org/clinvar/157521 ^@ NM_000166.5(GJB1):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/157522 ^@ NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) http://identifiers.org/clinvar/157523 ^@ NM_001113495.1(SEPT9):c.530G>A (p.Arg177His) http://identifiers.org/clinvar/157524 ^@ NM_015046.5(SETX):c.6792A>G (p.Ile2264Met) http://identifiers.org/clinvar/242635 ^@ NM_015046.5(SETX):c.59G>A (p.Arg20His) http://identifiers.org/clinvar/242634 ^@ NM_015046.5(SETX):c.3809C>T (p.Pro1270Leu) http://identifiers.org/clinvar/157527 ^@ NM_022041.3(GAN):c.730A>G (p.Ile244Val) http://identifiers.org/clinvar/242633 ^@ NM_001164731.1(REEP1):c.524A>G (p.Ter175Trp) http://identifiers.org/clinvar/242632 ^@ NM_015046.5(SETX):c.3075_3076insTGA (p.Arg1026_Lys1360delinsTer) http://identifiers.org/clinvar/157529 ^@ NM_001540.3(HSPB1):c.380G>T (p.Arg127Leu) http://identifiers.org/clinvar/157530 ^@ NM_022041.3(GAN):c.23C>G (p.Ser8Cys) http://identifiers.org/clinvar/157531 ^@ NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) http://identifiers.org/clinvar/157532 ^@ NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) http://identifiers.org/clinvar/157533 ^@ NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) http://identifiers.org/clinvar/157534 ^@ NM_001376.4(DYNC1H1):c.1700G>A (p.Arg567His) http://identifiers.org/clinvar/157535 ^@ NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) http://identifiers.org/clinvar/157536 ^@ NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) http://identifiers.org/clinvar/157537 ^@ NM_001605.2(AARS):c.497T>G (p.Ile166Ser) http://identifiers.org/clinvar/157538 ^@ NM_014629.3(ARHGEF10):c.2197C>T (p.His733Tyr) http://identifiers.org/clinvar/157539 ^@ NM_016156.5(MTMR2):c.*53G>A http://identifiers.org/clinvar/157542 ^@ NM_005276.3(GPD1):c.686G>C (p.Arg229Pro) http://identifiers.org/clinvar/157543 ^@ NM_004982.3(KCNJ8):c.1265C>T (p.Ser422Leu) http://identifiers.org/clinvar/157544 ^@ NM_004982.3(KCNJ8):c.193G>A (p.Val65Met) http://identifiers.org/clinvar/157545 ^@ NM_004982.3(KCNJ8):c.526T>A (p.Cys176Ser) http://identifiers.org/clinvar/157546 ^@ NM_022458.3(LMBR1):c.320-5565_423+10975dup http://identifiers.org/clinvar/157547 ^@ NG_009240.1:g.80271_127047dup46777 http://identifiers.org/clinvar/157548 ^@ NG_009240.1:g.44153_120123dup75971 http://identifiers.org/clinvar/157549 ^@ NM_015915.4(ATL1):c.353G>A (p.Arg118Gln) http://identifiers.org/clinvar/157550 ^@ NM_006624.5(ZMYND11):c.1759_1761delCAG (p.Gln587del) http://identifiers.org/clinvar/157551 ^@ NM_006624.5(ZMYND11):c.206dupT (p.Thr70Asnfs) http://identifiers.org/clinvar/157552 ^@ NM_006624.5(ZMYND11):c.976C>T (p.Gln326Ter) http://identifiers.org/clinvar/157553 ^@ NM_006624.5(ZMYND11):c.1246_1247delGA (p.Glu416Serfs) http://identifiers.org/clinvar/157554 ^@ NM_006624.5(ZMYND11):c.561delG (p.Met187Ilefs) http://identifiers.org/clinvar/157555 ^@ NM_015559.2(SETBP1):c.2464delA (p.Ile822Tyrfs) http://identifiers.org/clinvar/157556 ^@ NM_015559.2(SETBP1):c.1596G>A (p.Trp532Ter) http://identifiers.org/clinvar/157557 ^@ NM_015559.2(SETBP1):c.3032C>G (p.Ser1011Ter) http://identifiers.org/clinvar/157558 ^@ NM_015559.2(SETBP1):c.427delC (p.Arg143Valfs) http://identifiers.org/clinvar/157559 ^@ NM_015559.2(SETBP1):c.1873C>T (p.Arg625Ter) http://identifiers.org/clinvar/157560 ^@ NM_015559.2(SETBP1):c.1876C>T (p.Arg626Ter) http://identifiers.org/clinvar/157562 ^@ NM_000186.3(CFH):c.1507C>G (p.Pro503Ala) http://identifiers.org/clinvar/157563 ^@ NM_001264.4(CDSN):c.746delG (p.Gly249Valfs) http://identifiers.org/clinvar/157564 ^@ NM_001264.4(CDSN):c.164_167dupGCCT (p.Thr57Profs) http://identifiers.org/clinvar/157565 ^@ NM_001264.4(CDSN):c.424G>T (p.Gly142Ter) http://identifiers.org/clinvar/157566 ^@ NM_003784.3(SERPINB7):c.522dupT (p.Val175Cysfs) http://identifiers.org/clinvar/157567 ^@ NM_201631.3(TGM5):c.1335G>C (p.Lys445Asn) http://identifiers.org/clinvar/157568 ^@ NM_201631.3(TGM5):c.763T>C (p.Trp255Arg) http://identifiers.org/clinvar/157569 ^@ NM_201631.3(TGM5):c.122T>C (p.Leu41Pro) http://identifiers.org/clinvar/157570 ^@ NM_201631.3(TGM5):c.640delC (p.Leu214Cysfs) http://identifiers.org/clinvar/157571 ^@ NM_201631.3(TGM5):c.1811_1815delGCAGTinsTCCTTCA (p.Ser604Ilefs) http://identifiers.org/clinvar/157588 ^@ NM_194255.2(SLC19A1):c.80A>G (p.His27Arg) http://identifiers.org/clinvar/157589 ^@ NM_016724.2(FOLR1):c.-75+161G>A http://identifiers.org/clinvar/157590 ^@ NM_000791.3(DHFR):c.86+59_86+60insACCTGGGCGGGACGCGCCA http://identifiers.org/clinvar/157591 ^@ NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9] http://identifiers.org/clinvar/157592 ^@ NM_004169.4(SHMT1):c.1420C>T (p.Leu474Phe) http://identifiers.org/clinvar/157594 ^@ NM_013444.3(UBQLN2):c.1490C>T (p.Pro497Leu) http://identifiers.org/clinvar/157595 ^@ NM_001206927.1(DNAH8):c.2419C>T (p.Arg807Ter) http://identifiers.org/clinvar/157596 ^@ NM_002977.3(SCN9A):c.554G>A (p.Arg185His) http://identifiers.org/clinvar/157597 ^@ NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) http://identifiers.org/clinvar/157598 ^@ NM_002977.3(SCN9A):c.3993delGinsTT (p.Leu1331Phefs) http://identifiers.org/clinvar/157599 ^@ NM_014139.2(SCN11A):c.3473T>C (p.Leu1158Pro) http://identifiers.org/clinvar/157600 ^@ NM_014139.2(SCN11A):c.1142T>C (p.Ile381Thr) http://identifiers.org/clinvar/157603 ^@ NM_002354.2(EPCAM):c.556-14A>G http://identifiers.org/clinvar/157604 ^@ NM_002354.2(EPCAM):c.492-2A>G http://identifiers.org/clinvar/157605 ^@ NM_014927.4(CNKSR2):c.453dupA (p.Asp152Argfs) http://identifiers.org/clinvar/157606 ^@ NM_021999.4(ITM2B):c.782A>C (p.Glu261Ala) http://identifiers.org/clinvar/157607 ^@ NM_021102.3(SPINT2):c.502G>A (p.Gly168Ser) http://identifiers.org/clinvar/157608 ^@ NM_181503.2(EXOSC8):c.815G>C (p.Ser272Thr) http://identifiers.org/clinvar/157609 ^@ NM_181503.2(EXOSC8):c.5C>T (p.Ala2Val) http://identifiers.org/clinvar/157611 ^@ NM_001017361.2(KHDC3L):c.299_302delTCAA (p.Ile100Argfs) http://identifiers.org/clinvar/157612 ^@ NM_014832.4(TBC1D4):c.2050C>T (p.Arg684Ter) http://identifiers.org/clinvar/157613 ^@ NM_001302946.1(TRNT1):c.569G>T (p.Arg190Ile) http://identifiers.org/clinvar/157614 ^@ NM_001302946.1(TRNT1):c.668T>C (p.Ile223Thr) http://identifiers.org/clinvar/157615 ^@ NM_182916.2(TRNT1):c.1057-7C>G http://identifiers.org/clinvar/157616 ^@ NM_001302946.1(TRNT1):c.497T>C (p.Leu166Ser) http://identifiers.org/clinvar/157617 ^@ NM_001302946.1(TRNT1):c.461C>T (p.Thr154Ile) http://identifiers.org/clinvar/157618 ^@ NM_182916.2(TRNT1):c.1142_1143insATGT (p.Trp381Terfs) http://identifiers.org/clinvar/157630 ^@ NM_003981.3(PRC1):c.145-81A>T http://identifiers.org/clinvar/157631 ^@ NM_003981.3(PRC1):c.12-2765T>C http://identifiers.org/clinvar/157632 ^@ NM_003981.3(PRC1):c.282G>A (p.Thr94=) http://identifiers.org/clinvar/157633 ^@ NM_003981.3(PRC1):c.268-203A>G http://identifiers.org/clinvar/157634 ^@ NM_003981.3(PRC1):c.268-107G>A http://identifiers.org/clinvar/157635 ^@ NM_003981.3(PRC1):c.970+436G>A http://identifiers.org/clinvar/157636 ^@ NM_003981.3(PRC1):c.971-466T>C http://identifiers.org/clinvar/157637 ^@ NM_003981.3(PRC1):c.971-442C>T http://identifiers.org/clinvar/157638 ^@ NM_003981.3(PRC1):c.971-441G>A http://identifiers.org/clinvar/157639 ^@ NM_003981.3(PRC1):c.971-375A>G http://identifiers.org/clinvar/157640 ^@ NM_003981.3(PRC1):c.1350+35C>G http://identifiers.org/clinvar/157641 ^@ NM_003981.3(PRC1):c.1351-3C>T http://identifiers.org/clinvar/157642 ^@ NM_003981.3(PRC1):c.1462-1016G>A http://identifiers.org/clinvar/157643 ^@ NM_003981.3(PRC1):c.1532A>G (p.Tyr511Cys) http://identifiers.org/clinvar/157644 ^@ NM_003981.3(PRC1):c.1792-828T>C http://identifiers.org/clinvar/157645 ^@ NM_003981.3(PRC1):c.*627T>C http://identifiers.org/clinvar/157646 ^@ NM_003981.3(PRC1):c.*769A>G http://identifiers.org/clinvar/157647 ^@ NM_003981.3(PRC1):c.1351-124_1351-123insoAC068831.17:g.63209_63266 http://identifiers.org/clinvar/157648 ^@ NM_003981.3(PRC1):c.*342A>G http://identifiers.org/clinvar/157649 ^@ NM_003981.3(PRC1):c.*441C>A http://identifiers.org/clinvar/157650 ^@ NM_003981.3(PRC1):c.*733G>A http://identifiers.org/clinvar/157651 ^@ NM_003981.3(PRC1):c.*919G>T http://identifiers.org/clinvar/218177 ^@ NM_024537.3(CARS2):c.649_651delGAG (p.Glu217del) http://identifiers.org/clinvar/218178 ^@ NM_024537.3(CARS2):c.752C>T (p.Pro251Leu) http://identifiers.org/clinvar/157658 ^@ NM_033071.3(SYNE1):c.10789C>T (p.Arg3597Ter) http://identifiers.org/clinvar/157662 ^@ NM_000238.3(KCNH2):c.656A>T (p.Asp219Val) http://identifiers.org/clinvar/157663 ^@ NM_001556.2(IKBKB):c.814C>T (p.Arg272Ter) http://identifiers.org/clinvar/157665 ^@ NC_000023.11:g.(155246216_?)_(?_155288781)del http://identifiers.org/clinvar/157671 ^@ NM_004415.3(DSP):c.1817_1846dup30 (p.Ala615_Gln616insArgLysIleGlnSerGlnPheThrAspAla) http://identifiers.org/clinvar/157672 ^@ NM_004415.3(DSP):c.1790C>T (p.Ser597Leu) http://identifiers.org/clinvar/157673 ^@ NM_004415.3(DSP):c.1691C>T (p.Thr564Ile) http://identifiers.org/clinvar/157674 ^@ NM_006254.3(PRKCD):c.1528G>A (p.Gly510Ser) http://identifiers.org/clinvar/157675 ^@ NM_006254.3(PRKCD):c.1840C>T (p.Arg614Trp) http://identifiers.org/clinvar/157678 ^@ NM_003988.4(PAX2):c.1102A>T (p.Thr368Ser) http://identifiers.org/clinvar/157679 ^@ NM_003990.4(PAX2):c.1160G>A (p.Ser387Asn) http://identifiers.org/clinvar/157681 ^@ NM_000352.4(ABCC8):c.1158C>T (p.Asn386=) http://identifiers.org/clinvar/157682 ^@ NM_000352.4(ABCC8):c.1332+4delC http://identifiers.org/clinvar/157683 ^@ NM_000352.4(ABCC8):c.1562G>A (p.Arg521Gln) http://identifiers.org/clinvar/157684 ^@ NM_000352.4(ABCC8):c.1686C>T (p.His562=) http://identifiers.org/clinvar/157685 ^@ NM_000352.4(ABCC8):c.1926C>G (p.Pro642=) http://identifiers.org/clinvar/157686 ^@ NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) http://identifiers.org/clinvar/157687 ^@ NM_000352.4(ABCC8):c.207T>C (p.Pro69=) http://identifiers.org/clinvar/157688 ^@ NM_000352.4(ABCC8):c.2117-3C>T http://identifiers.org/clinvar/157689 ^@ NM_000352.4(ABCC8):c.2277C>T (p.Thr759=) http://identifiers.org/clinvar/157690 ^@ NM_000352.4(ABCC8):c.2292-34T>C http://identifiers.org/clinvar/157691 ^@ NM_000352.4(ABCC8):c.2485C>T (p.Leu829=) http://identifiers.org/clinvar/157692 ^@ NM_000352.4(ABCC8):c.2538C>T (p.His846=) http://identifiers.org/clinvar/157693 ^@ NM_000352.4(ABCC8):c.2556+22G>A http://identifiers.org/clinvar/157694 ^@ NM_000352.4(ABCC8):c.2820+17A>G http://identifiers.org/clinvar/157695 ^@ NM_000352.4(ABCC8):c.330C>T (p.Ala110=) http://identifiers.org/clinvar/157696 ^@ NM_000352.4(ABCC8):c.3509delT (p.Leu1170Argfs) http://identifiers.org/clinvar/157697 ^@ NM_000352.4(ABCC8):c.3612C>T (p.Ala1204=) http://identifiers.org/clinvar/157698 ^@ NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) http://identifiers.org/clinvar/157699 ^@ NM_000352.4(ABCC8):c.4105G>T (p.Ala1369Ser) http://identifiers.org/clinvar/157700 ^@ NM_000352.4(ABCC8):c.4120-27T>C http://identifiers.org/clinvar/157701 ^@ NM_000352.4(ABCC8):c.4174T>G (p.Phe1392Val) http://identifiers.org/clinvar/157702 ^@ NM_000352.4(ABCC8):c.423G>A (p.Val141=) http://identifiers.org/clinvar/157703 ^@ NM_000352.4(ABCC8):c.4431C>T (p.Gly1477=) http://identifiers.org/clinvar/157704 ^@ NM_000352.4(ABCC8):c.4609-40A>G http://identifiers.org/clinvar/157705 ^@ NM_000352.4(ABCC8):c.4714G>A (p.Val1572Ile) http://identifiers.org/clinvar/157706 ^@ NM_000352.4(ABCC8):c.4728C>T (p.Phe1576=) http://identifiers.org/clinvar/157707 ^@ NM_000352.4(ABCC8):c.579+14C>T http://identifiers.org/clinvar/157708 ^@ NM_000352.4(ABCC8):c.823-8C>T http://identifiers.org/clinvar/157709 ^@ NM_000352.4(ABCC8):c.878A>C (p.His293Pro) http://identifiers.org/clinvar/157710 ^@ NM_003659.3(AGPS):c.1173C>G (p.Gly391=) http://identifiers.org/clinvar/157711 ^@ NM_003659.3(AGPS):c.147C>T (p.Pro49=) http://identifiers.org/clinvar/157712 ^@ NM_003659.3(AGPS):c.207A>G (p.Ala69=) http://identifiers.org/clinvar/157713 ^@ NM_003659.3(AGPS):c.261-5A>C http://identifiers.org/clinvar/157714 ^@ NM_003916.4(AP1S2):c.288T>C (p.Ser96=) http://identifiers.org/clinvar/157715 ^@ NM_006594.4(AP4B1):c.-35G>C http://identifiers.org/clinvar/157716 ^@ NM_006594.4(AP4B1):c.1189A>G (p.Ile397Val) http://identifiers.org/clinvar/157717 ^@ NM_006594.4(AP4B1):c.1365T>C (p.Tyr455=) http://identifiers.org/clinvar/157718 ^@ NM_006594.4(AP4B1):c.1439T>C (p.Leu480Ser) http://identifiers.org/clinvar/157719 ^@ NM_006594.4(AP4B1):c.1793-9C>G http://identifiers.org/clinvar/157720 ^@ NM_006594.4(AP4B1):c.240A>G (p.Pro80=) http://identifiers.org/clinvar/157721 ^@ NM_006594.4(AP4B1):c.313delG (p.Ala105Argfs) http://identifiers.org/clinvar/157722 ^@ NM_006594.4(AP4B1):c.402A>C (p.Ser134=) http://identifiers.org/clinvar/157723 ^@ NM_006594.4(AP4B1):c.576C>T (p.Gly192=) http://identifiers.org/clinvar/157724 ^@ NM_006594.4(AP4B1):c.577G>A (p.Val193Ile) http://identifiers.org/clinvar/157725 ^@ NM_006594.4(AP4B1):c.618-13G>C http://identifiers.org/clinvar/157726 ^@ NM_006594.4(AP4B1):c.69A>G (p.Gln23=) http://identifiers.org/clinvar/157727 ^@ NM_006594.4(AP4B1):c.803A>G (p.His268Arg) http://identifiers.org/clinvar/157728 ^@ NM_000047.2(ARSE):c.1270G>A (p.Gly424Ser) http://identifiers.org/clinvar/157729 ^@ NM_000047.2(ARSE):c.157A>G (p.Ile53Val) http://identifiers.org/clinvar/157730 ^@ NM_000047.2(ARSE):c.1692C>T (p.Asn564=) http://identifiers.org/clinvar/157731 ^@ NM_000047.2(ARSE):c.1728G>A (p.Pro576=) http://identifiers.org/clinvar/157732 ^@ NM_000047.2(ARSE):c.337C>T (p.Leu113Phe) http://identifiers.org/clinvar/157733 ^@ NM_000047.2(ARSE):c.495T>G (p.His165Gln) http://identifiers.org/clinvar/157734 ^@ NM_000047.2(ARSE):c.548G>A (p.Arg183His) http://identifiers.org/clinvar/157735 ^@ NM_000047.2(ARSE):c.549C>T (p.Arg183=) http://identifiers.org/clinvar/157736 ^@ NM_000047.2(ARSE):c.786G>A (p.Thr262=) http://identifiers.org/clinvar/157737 ^@ NM_000047.2(ARSE):c.78A>G (p.Ala26=) http://identifiers.org/clinvar/157738 ^@ NM_000047.2(ARSE):c.867G>A (p.Gly289=) http://identifiers.org/clinvar/157739 ^@ NM_139058.2(ARX):c.1111C>T (p.Arg371Ter) http://identifiers.org/clinvar/157740 ^@ NM_139058.2(ARX):c.1121T>A (p.Val374Asp) http://identifiers.org/clinvar/157741 ^@ NM_139058.2(ARX):c.1134C>A (p.Asn378Lys) http://identifiers.org/clinvar/157742 ^@ NM_139058.2(ARX):c.1281C>T (p.Asp427=) http://identifiers.org/clinvar/157743 ^@ NM_139058.2(ARX):c.1318_1320dupGCC (p.Ala440_Phe441insAla) http://identifiers.org/clinvar/157744 ^@ NM_139058.2(ARX):c.1372delG (p.Ala458Argfs) http://identifiers.org/clinvar/157745 ^@ NM_139058.2(ARX):c.1400G>T (p.Gly467Val) http://identifiers.org/clinvar/157746 ^@ NM_139058.2(ARX):c.1414C>T (p.Arg472Ter) http://identifiers.org/clinvar/157747 ^@ NM_139058.2(ARX):c.1448G>A (p.Arg483Lys) http://identifiers.org/clinvar/157748 ^@ NM_139058.2(ARX):c.1465delG (p.Ala489Profs) http://identifiers.org/clinvar/157749 ^@ NM_139058.2(ARX):c.1544delG (p.Gly515Alafs) http://identifiers.org/clinvar/157750 ^@ NM_139058.2(ARX):c.172delG (p.Ala58Profs) http://identifiers.org/clinvar/157751 ^@ NM_139058.2(ARX):c.211A>T (p.Ser71Cys) http://identifiers.org/clinvar/157752 ^@ NM_139058.2(ARX):c.216C>A (p.Ser72Arg) http://identifiers.org/clinvar/157753 ^@ NM_139058.2(ARX):c.306G>T (p.Ala102=) http://identifiers.org/clinvar/157754 ^@ NM_139058.2(ARX):c.330_335delGGCGGC (p.Ala114_Ala115del) http://identifiers.org/clinvar/157755 ^@ NM_139058.2(ARX):c.333_335dupGGC (p.Ala115_Thr116insAla) http://identifiers.org/clinvar/157756 ^@ NM_139058.2(ARX):c.335_368del34 (p.Ala112Glyfs) http://identifiers.org/clinvar/157757 ^@ NM_139058.2(ARX):c.34G>T (p.Glu12Ter) http://identifiers.org/clinvar/157758 ^@ NM_139058.2(ARX):c.454G>A (p.Ala152Thr) http://identifiers.org/clinvar/157759 ^@ NM_139058.2(ARX):c.617delG (p.Gly206Alafs) http://identifiers.org/clinvar/157760 ^@ NM_139058.2(ARX):c.625G>C (p.Gly209Arg) http://identifiers.org/clinvar/157761 ^@ NM_139058.2(ARX):c.651G>T (p.Ala217=) http://identifiers.org/clinvar/157762 ^@ NM_139058.2(ARX):c.807C>T (p.Ala269=) http://identifiers.org/clinvar/157763 ^@ NM_139058.2(ARX):c.851C>A (p.Thr284Lys) http://identifiers.org/clinvar/157764 ^@ NM_139058.2(ARX):c.88G>T (p.Asp30Tyr) http://identifiers.org/clinvar/157765 ^@ NM_139058.2(ARX):c.995G>T (p.Arg332Leu) http://identifiers.org/clinvar/157766 ^@ NM_139058.2(ARX):c.998C>G (p.Thr333Ser) http://identifiers.org/clinvar/157767 ^@ NM_018136.4(ASPM):c.-110C>T http://identifiers.org/clinvar/157768 ^@ NM_018136.4(ASPM):c.-9G>T http://identifiers.org/clinvar/157769 ^@ NM_018136.4(ASPM):c.1007C>A (p.Thr336Lys) http://identifiers.org/clinvar/157770 ^@ NM_018136.4(ASPM):c.10100G>A (p.Ser3367Asn) http://identifiers.org/clinvar/157771 ^@ NM_018136.4(ASPM):c.10109C>G (p.Thr3370Arg) http://identifiers.org/clinvar/157772 ^@ NM_018136.4(ASPM):c.10162-7T>A http://identifiers.org/clinvar/157774 ^@ NM_018136.4(ASPM):c.10331+5G>A http://identifiers.org/clinvar/157775 ^@ NM_018136.4(ASPM):c.10331+8A>G http://identifiers.org/clinvar/157776 ^@ NM_018136.4(ASPM):c.112G>A (p.Val38Ile) http://identifiers.org/clinvar/157777 ^@ NM_018136.4(ASPM):c.1138C>T (p.Gln380Ter) http://identifiers.org/clinvar/157778 ^@ NM_018136.4(ASPM):c.117_118delGT (p.Leu41Glnfs) http://identifiers.org/clinvar/157779 ^@ NM_018136.4(ASPM):c.1201A>G (p.Met401Val) http://identifiers.org/clinvar/157780 ^@ NM_018136.4(ASPM):c.1388G>A (p.Ser463Asn) http://identifiers.org/clinvar/157781 ^@ NM_018136.4(ASPM):c.1451A>G (p.Asn484Ser) http://identifiers.org/clinvar/157782 ^@ NM_018136.4(ASPM):c.1495A>G (p.Lys499Glu) http://identifiers.org/clinvar/157783 ^@ NM_018136.4(ASPM):c.1671_1672delTT (p.Ser557Argfs) http://identifiers.org/clinvar/157784 ^@ NM_018136.4(ASPM):c.1717C>T (p.Arg573Trp) http://identifiers.org/clinvar/157785 ^@ NM_018136.4(ASPM):c.1726_1729delAAGA (p.Lys576Alafs) http://identifiers.org/clinvar/157786 ^@ NM_018136.4(ASPM):c.1740C>G (p.Ser580Arg) http://identifiers.org/clinvar/157787 ^@ NM_018136.4(ASPM):c.1922-14C>G http://identifiers.org/clinvar/157788 ^@ NM_018136.4(ASPM):c.1922-41G>A http://identifiers.org/clinvar/157789 ^@ NM_018136.4(ASPM):c.1949C>G (p.Ser650Cys) http://identifiers.org/clinvar/157790 ^@ NM_018136.4(ASPM):c.1987G>T (p.Ala663Ser) http://identifiers.org/clinvar/157791 ^@ NM_018136.4(ASPM):c.2195T>C (p.Leu732Ser) http://identifiers.org/clinvar/157792 ^@ NM_018136.4(ASPM):c.2218A>T (p.Ile740Leu) http://identifiers.org/clinvar/157793 ^@ NM_018136.4(ASPM):c.223G>A (p.Ala75Thr) http://identifiers.org/clinvar/157794 ^@ NM_018136.4(ASPM):c.2307A>G (p.Ala769=) http://identifiers.org/clinvar/157795 ^@ NM_018136.4(ASPM):c.2419+2T>C http://identifiers.org/clinvar/157796 ^@ NM_018136.4(ASPM):c.2724T>C (p.His908=) http://identifiers.org/clinvar/157797 ^@ NM_018136.4(ASPM):c.2791C>T (p.Arg931Ter) http://identifiers.org/clinvar/157798 ^@ NM_018136.4(ASPM):c.2914T>G (p.Leu972Val) http://identifiers.org/clinvar/157799 ^@ NM_018136.4(ASPM):c.2968delG (p.Asp990Thrfs) http://identifiers.org/clinvar/157800 ^@ NM_018136.4(ASPM):c.2968G>A (p.Asp990Asn) http://identifiers.org/clinvar/157801 ^@ NM_018136.4(ASPM):c.301A>G (p.Lys101Glu) http://identifiers.org/clinvar/157802 ^@ NM_018136.4(ASPM):c.309A>G (p.Lys103=) http://identifiers.org/clinvar/157803 ^@ NM_018136.4(ASPM):c.3327T>G (p.Tyr1109Ter) http://identifiers.org/clinvar/157804 ^@ NM_018136.4(ASPM):c.3391-14G>T http://identifiers.org/clinvar/157805 ^@ NM_018136.4(ASPM):c.3599-4A>G http://identifiers.org/clinvar/157806 ^@ NM_018136.4(ASPM):c.3698T>C (p.Met1233Thr) http://identifiers.org/clinvar/157807 ^@ NM_018136.4(ASPM):c.3714T>C (p.Asp1238=) http://identifiers.org/clinvar/157808 ^@ NM_018136.4(ASPM):c.3741+3A>G http://identifiers.org/clinvar/157809 ^@ NM_018136.4(ASPM):c.3742-10T>G http://identifiers.org/clinvar/157810 ^@ NM_018136.4(ASPM):c.3742-3dup http://identifiers.org/clinvar/157811 ^@ NM_018136.4(ASPM):c.3825A>C (p.Thr1275=) http://identifiers.org/clinvar/157812 ^@ NM_018136.4(ASPM):c.3830G>A (p.Trp1277Ter) http://identifiers.org/clinvar/157813 ^@ NM_018136.4(ASPM):c.3853_3854delGA (p.Asp1285Serfs) http://identifiers.org/clinvar/157814 ^@ NM_018136.4(ASPM):c.3912C>A (p.Ile1304=) http://identifiers.org/clinvar/157815 ^@ NM_018136.4(ASPM):c.3945_3946delAG (p.Arg1315Serfs) http://identifiers.org/clinvar/157816 ^@ NM_018136.4(ASPM):c.3960C>T (p.Leu1320=) http://identifiers.org/clinvar/157817 ^@ NM_018136.4(ASPM):c.4118_4120delATT (p.Tyr1373del) http://identifiers.org/clinvar/157818 ^@ NM_018136.4(ASPM):c.4213C>T (p.Arg1405Cys) http://identifiers.org/clinvar/157819 ^@ NM_018136.4(ASPM):c.441+10T>G http://identifiers.org/clinvar/157820 ^@ NM_018136.4(ASPM):c.4443A>G (p.Leu1481=) http://identifiers.org/clinvar/157821 ^@ NM_018136.4(ASPM):c.4445G>A (p.Arg1482Gln) http://identifiers.org/clinvar/157822 ^@ NM_018136.4(ASPM):c.4474G>C (p.Val1492Leu) http://identifiers.org/clinvar/157823 ^@ NM_018136.4(ASPM):c.4496G>T (p.Arg1499Leu) http://identifiers.org/clinvar/157824 ^@ NM_018136.4(ASPM):c.4728_4729delAG (p.Arg1576Serfs) http://identifiers.org/clinvar/157825 ^@ NM_018136.4(ASPM):c.4733G>A (p.Arg1578Gln) http://identifiers.org/clinvar/157826 ^@ NM_018136.4(ASPM):c.5061A>G (p.Ser1687=) http://identifiers.org/clinvar/157827 ^@ NM_018136.4(ASPM):c.5063C>T (p.Thr1688Ile) http://identifiers.org/clinvar/157828 ^@ NM_018136.4(ASPM):c.5083C>T (p.Arg1695Cys) http://identifiers.org/clinvar/157829 ^@ NM_018136.4(ASPM):c.5196T>A (p.Cys1732Ter) http://identifiers.org/clinvar/157830 ^@ NM_018136.4(ASPM):c.5224T>C (p.Tyr1742His) http://identifiers.org/clinvar/157831 ^@ NM_018136.4(ASPM):c.5233C>T (p.Arg1745Ter) http://identifiers.org/clinvar/157832 ^@ NM_018136.4(ASPM):c.5292G>A (p.Met1764Ile) http://identifiers.org/clinvar/157833 ^@ NM_018136.4(ASPM):c.5299G>C (p.Ala1767Pro) http://identifiers.org/clinvar/157834 ^@ NM_018136.4(ASPM):c.5452C>T (p.Arg1818Cys) http://identifiers.org/clinvar/157835 ^@ NM_018136.4(ASPM):c.5510G>A (p.Gly1837Asp) http://identifiers.org/clinvar/157836 ^@ NM_018136.4(ASPM):c.5579C>T (p.Ala1860Val) http://identifiers.org/clinvar/157837 ^@ NM_018136.4(ASPM):c.5582A>G (p.Tyr1861Cys) http://identifiers.org/clinvar/157838 ^@ NM_018136.4(ASPM):c.5629G>A (p.Ala1877Thr) http://identifiers.org/clinvar/157839 ^@ NM_018136.4(ASPM):c.5629G>T (p.Ala1877Ser) http://identifiers.org/clinvar/157840 ^@ NM_018136.4(ASPM):c.562G>C (p.Val188Leu) http://identifiers.org/clinvar/157841 ^@ NM_018136.4(ASPM):c.5821T>C (p.Cys1941Arg) http://identifiers.org/clinvar/157842 ^@ NM_018136.4(ASPM):c.5846A>G (p.His1949Arg) http://identifiers.org/clinvar/157843 ^@ NM_018136.4(ASPM):c.5923A>G (p.Ile1975Val) http://identifiers.org/clinvar/157844 ^@ NM_018136.4(ASPM):c.5947A>T (p.Met1983Leu) http://identifiers.org/clinvar/157845 ^@ NM_018136.4(ASPM):c.59C>T (p.Pro20Leu) http://identifiers.org/clinvar/157846 ^@ NM_018136.4(ASPM):c.601A>G (p.Asn201Asp) http://identifiers.org/clinvar/157847 ^@ NM_018136.4(ASPM):c.6058A>G (p.Thr2020Ala) http://identifiers.org/clinvar/157848 ^@ NM_018136.4(ASPM):c.606A>G (p.Glu202=) http://identifiers.org/clinvar/157849 ^@ NM_018136.4(ASPM):c.609C>T (p.Gly203=) http://identifiers.org/clinvar/157850 ^@ NM_018136.4(ASPM):c.6125A>G (p.Asp2042Gly) http://identifiers.org/clinvar/157851 ^@ NM_018136.4(ASPM):c.6131A>G (p.Asn2044Ser) http://identifiers.org/clinvar/157852 ^@ NM_018136.4(ASPM):c.6241A>G (p.Lys2081Glu) http://identifiers.org/clinvar/157853 ^@ NM_018136.4(ASPM):c.6334C>T (p.His2112Tyr) http://identifiers.org/clinvar/157854 ^@ NM_018136.4(ASPM):c.637delA (p.Ile213Tyrfs) http://identifiers.org/clinvar/157855 ^@ NM_018136.4(ASPM):c.646G>A (p.Glu216Lys) http://identifiers.org/clinvar/157856 ^@ NM_018136.4(ASPM):c.6717G>C (p.Leu2239=) http://identifiers.org/clinvar/157857 ^@ NM_018136.4(ASPM):c.6727G>T (p.Val2243Leu) http://identifiers.org/clinvar/157858 ^@ NM_018136.4(ASPM):c.6775T>C (p.Leu2259=) http://identifiers.org/clinvar/157859 ^@ NM_018136.4(ASPM):c.6852_6855delTCTC (p.Leu2285Argfs) http://identifiers.org/clinvar/157860 ^@ NM_018136.4(ASPM):c.6960A>G (p.Ser2320=) http://identifiers.org/clinvar/157861 ^@ NM_018136.4(ASPM):c.7023C>T (p.Ile2341=) http://identifiers.org/clinvar/157862 ^@ NM_018136.4(ASPM):c.7062T>C (p.Tyr2354=) http://identifiers.org/clinvar/157863 ^@ NM_018136.4(ASPM):c.7074A>G (p.Lys2358=) http://identifiers.org/clinvar/157864 ^@ NM_018136.4(ASPM):c.7125_7128dupACTG (p.Gln2377Thrfs) http://identifiers.org/clinvar/157867 ^@ NM_018136.4(ASPM):c.7160_7161delCT (p.Ser2387Cysfs) http://identifiers.org/clinvar/157868 ^@ NM_018136.4(ASPM):c.7353G>A (p.Leu2451=) http://identifiers.org/clinvar/157869 ^@ NM_018136.4(ASPM):c.7428G>T (p.Lys2476Asn) http://identifiers.org/clinvar/157870 ^@ NM_018136.4(ASPM):c.7551T>C (p.Tyr2517=) http://identifiers.org/clinvar/157871 ^@ NM_018136.4(ASPM):c.7554A>G (p.Arg2518=) http://identifiers.org/clinvar/157872 ^@ NM_018136.4(ASPM):c.7576A>G (p.Asn2526Asp) http://identifiers.org/clinvar/157873 ^@ NM_018136.4(ASPM):c.7612C>T (p.Gln2538Ter) http://identifiers.org/clinvar/157874 ^@ NM_018136.4(ASPM):c.7665delA (p.Ala2556Leufs) http://identifiers.org/clinvar/157875 ^@ NM_018136.4(ASPM):c.7670C>G (p.Ser2557Cys) http://identifiers.org/clinvar/157876 ^@ NM_018136.4(ASPM):c.7674C>A (p.Ile2558=) http://identifiers.org/clinvar/157878 ^@ NM_018136.4(ASPM):c.7787T>C (p.Val2596Ala) http://identifiers.org/clinvar/157879 ^@ NM_018136.4(ASPM):c.7817C>A (p.Thr2606Asn) http://identifiers.org/clinvar/157880 ^@ NM_018136.4(ASPM):c.7825C>T (p.Gln2609Ter) http://identifiers.org/clinvar/157881 ^@ NM_018136.4(ASPM):c.7841A>G (p.Asp2614Gly) http://identifiers.org/clinvar/157882 ^@ NM_018136.4(ASPM):c.7858C>A (p.Gln2620Lys) http://identifiers.org/clinvar/157883 ^@ NM_018136.4(ASPM):c.7917A>G (p.Lys2639=) http://identifiers.org/clinvar/157884 ^@ NM_018136.4(ASPM):c.8009T>C (p.Ile2670Thr) http://identifiers.org/clinvar/157885 ^@ NM_018136.4(ASPM):c.8017C>T (p.Gln2673Ter) http://identifiers.org/clinvar/157886 ^@ NM_018136.4(ASPM):c.8034C>A (p.Gly2678=) http://identifiers.org/clinvar/157887 ^@ NM_018136.4(ASPM):c.803_804delAA (p.Lys268Serfs) http://identifiers.org/clinvar/157888 ^@ NM_018136.4(ASPM):c.8133_8136delGAAA (p.Lys2712Leufs) http://identifiers.org/clinvar/157889 ^@ NM_018136.4(ASPM):c.81C>A (p.Pro27=) http://identifiers.org/clinvar/157890 ^@ NM_018136.4(ASPM):c.8203T>G (p.Phe2735Val) http://identifiers.org/clinvar/157891 ^@ NM_018136.4(ASPM):c.8291A>G (p.Glu2764Gly) http://identifiers.org/clinvar/157892 ^@ NM_018136.4(ASPM):c.8449G>T (p.Ala2817Ser) http://identifiers.org/clinvar/157893 ^@ NM_018136.4(ASPM):c.844A>C (p.Asn282His) http://identifiers.org/clinvar/157894 ^@ NM_018136.4(ASPM):c.8506_8507delCA (p.Gln2836Glufs) http://identifiers.org/clinvar/157895 ^@ NM_018136.4(ASPM):c.8523A>G (p.Leu2841=) http://identifiers.org/clinvar/157896 ^@ NM_018136.4(ASPM):c.8524C>T (p.Arg2842Trp) http://identifiers.org/clinvar/157897 ^@ NM_018136.4(ASPM):c.8704C>T (p.Gln2902Ter) http://identifiers.org/clinvar/157898 ^@ NM_018136.4(ASPM):c.8711_8712delAA (p.Gln2904Argfs) http://identifiers.org/clinvar/157899 ^@ NM_018136.4(ASPM):c.8741T>C (p.Ile2914Thr) http://identifiers.org/clinvar/157900 ^@ NM_018136.4(ASPM):c.8820+7C>G http://identifiers.org/clinvar/157901 ^@ NM_018136.4(ASPM):c.8903G>A (p.Trp2968Ter) http://identifiers.org/clinvar/157902 ^@ NM_018136.4(ASPM):c.8988-42G>A http://identifiers.org/clinvar/157903 ^@ NM_018136.4(ASPM):c.905G>A (p.Cys302Tyr) http://identifiers.org/clinvar/157904 ^@ NM_018136.4(ASPM):c.9091C>T (p.Arg3031Ter) http://identifiers.org/clinvar/157905 ^@ NM_018136.4(ASPM):c.9104T>A (p.Leu3035Ter) http://identifiers.org/clinvar/157906 ^@ NM_018136.4(ASPM):c.9254T>C (p.Ile3085Thr) http://identifiers.org/clinvar/157907 ^@ NM_018136.4(ASPM):c.9276T>C (p.Gly3092=) http://identifiers.org/clinvar/157908 ^@ NM_018136.4(ASPM):c.9309_9310delAG (p.Arg3103Serfs) http://identifiers.org/clinvar/157909 ^@ NM_018136.4(ASPM):c.9320G>A (p.Arg3107Gln) http://identifiers.org/clinvar/157910 ^@ NM_018136.4(ASPM):c.932G>C (p.Ser311Thr) http://identifiers.org/clinvar/157911 ^@ NM_018136.4(ASPM):c.9395T>C (p.Leu3132Pro) http://identifiers.org/clinvar/157912 ^@ NM_018136.4(ASPM):c.9444+8T>G http://identifiers.org/clinvar/157913 ^@ NM_018136.4(ASPM):c.9454C>T (p.Arg3152Ter) http://identifiers.org/clinvar/157914 ^@ NM_018136.4(ASPM):c.9492T>C (p.Tyr3164=) http://identifiers.org/clinvar/157915 ^@ NM_018136.4(ASPM):c.9577C>T (p.Arg3193Cys) http://identifiers.org/clinvar/157916 ^@ NM_018136.4(ASPM):c.9662G>A (p.Arg3221Lys) http://identifiers.org/clinvar/157917 ^@ NM_018136.4(ASPM):c.9726G>A (p.Glu3242=) http://identifiers.org/clinvar/157918 ^@ NM_018136.4(ASPM):c.9910C>T (p.Arg3304Ter) http://identifiers.org/clinvar/157919 ^@ NM_018136.4(ASPM):c.9911G>A (p.Arg3304Gln) http://identifiers.org/clinvar/157920 ^@ NM_018136.4(ASPM):c.9923G>A (p.Arg3308His) http://identifiers.org/clinvar/157921 ^@ NM_018136.4(ASPM):c.9928A>G (p.Ile3310Val) http://identifiers.org/clinvar/157922 ^@ NM_018136.4(ASPM):c.9985-72G>A http://identifiers.org/clinvar/157923 ^@ NM_018136.4(ASPM):c.9996T>C (p.Thr3332=) http://identifiers.org/clinvar/157924 ^@ NM_152296.4(ATP1A3):c.1323G>A (p.Ala441=) http://identifiers.org/clinvar/157925 ^@ NM_152296.4(ATP1A3):c.2319T>C (p.Asn773=) http://identifiers.org/clinvar/157926 ^@ NM_152296.4(ATP1A3):c.666T>G (p.Thr222=) http://identifiers.org/clinvar/157927 ^@ NM_000053.3(ATP7B):c.-119delG http://identifiers.org/clinvar/157928 ^@ NM_000053.3(ATP7B):c.122A>G (p.Asn41Ser) http://identifiers.org/clinvar/157929 ^@ NM_000053.3(ATP7B):c.1336G>C (p.Val446Leu) http://identifiers.org/clinvar/157930 ^@ NM_000053.3(ATP7B):c.1877G>C (p.Gly626Ala) http://identifiers.org/clinvar/157931 ^@ NM_000053.3(ATP7B):c.1878C>T (p.Gly626=) http://identifiers.org/clinvar/157932 ^@ NM_000053.3(ATP7B):c.1969A>C (p.Ser657Arg) http://identifiers.org/clinvar/157933 ^@ NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) http://identifiers.org/clinvar/157934 ^@ NM_000053.3(ATP7B):c.2002A>G (p.Met668Val) http://identifiers.org/clinvar/157935 ^@ NM_000053.3(ATP7B):c.2166G>A (p.Leu722=) http://identifiers.org/clinvar/157936 ^@ NM_000053.3(ATP7B):c.2175G>A (p.Arg725=) http://identifiers.org/clinvar/157937 ^@ NM_000053.3(ATP7B):c.2292C>T (p.Phe764=) http://identifiers.org/clinvar/157938 ^@ NM_000053.3(ATP7B):c.2355+13T>G http://identifiers.org/clinvar/157939 ^@ NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) http://identifiers.org/clinvar/157940 ^@ NM_000053.3(ATP7B):c.2623G>A (p.Gly875Arg) http://identifiers.org/clinvar/157941 ^@ NM_000053.3(ATP7B):c.2673C>G (p.Gly891=) http://identifiers.org/clinvar/157942 ^@ NM_000053.3(ATP7B):c.2865+1G>A http://identifiers.org/clinvar/157943 ^@ NM_000053.3(ATP7B):c.3011A>C (p.Gln1004Pro) http://identifiers.org/clinvar/157944 ^@ NM_000053.3(ATP7B):c.3169C>T (p.Leu1057=) http://identifiers.org/clinvar/157945 ^@ NM_000053.3(ATP7B):c.3188C>T (p.Ala1063Val) http://identifiers.org/clinvar/157946 ^@ NM_000053.3(ATP7B):c.3210C>T (p.Pro1070=) http://identifiers.org/clinvar/157947 ^@ NM_000053.3(ATP7B):c.3324C>T (p.Asn1108=) http://identifiers.org/clinvar/157948 ^@ NM_000053.3(ATP7B):c.3381G>A (p.Leu1127=) http://identifiers.org/clinvar/157949 ^@ NM_000053.3(ATP7B):c.3399T>C (p.Leu1133=) http://identifiers.org/clinvar/157950 ^@ NM_000053.3(ATP7B):c.3428C>A (p.Thr1143Asn) http://identifiers.org/clinvar/157951 ^@ NM_000053.3(ATP7B):c.3498T>C (p.Ser1166=) http://identifiers.org/clinvar/157952 ^@ NM_000053.3(ATP7B):c.3548C>G (p.Ala1183Gly) http://identifiers.org/clinvar/157953 ^@ NM_000053.3(ATP7B):c.3733C>T (p.Pro1245Ser) http://identifiers.org/clinvar/157954 ^@ NM_000053.3(ATP7B):c.3891C>T (p.Val1297=) http://identifiers.org/clinvar/157955 ^@ NM_000053.3(ATP7B):c.4021G>A (p.Gly1341Ser) http://identifiers.org/clinvar/157956 ^@ NM_000053.3(ATP7B):c.4039G>A (p.Gly1347Ser) http://identifiers.org/clinvar/157957 ^@ NM_000053.3(ATP7B):c.4135C>T (p.Pro1379Ser) http://identifiers.org/clinvar/157958 ^@ NM_000053.3(ATP7B):c.41C>A (p.Ala14Asp) http://identifiers.org/clinvar/157959 ^@ NM_000053.3(ATP7B):c.4221T>A (p.Asp1407Glu) http://identifiers.org/clinvar/157960 ^@ NM_000053.3(ATP7B):c.870G>C (p.Val290=) http://identifiers.org/clinvar/157961 ^@ NM_000053.3(ATP7B):c.9G>A (p.Glu3=) http://identifiers.org/clinvar/157962 ^@ NM_001184.3(ATR):c.1326A>G (p.Lys442=) http://identifiers.org/clinvar/157963 ^@ NM_001184.3(ATR):c.1328G>C (p.Arg443Thr) http://identifiers.org/clinvar/157964 ^@ NM_001184.3(ATR):c.1350-3T>C http://identifiers.org/clinvar/157965 ^@ NM_001184.3(ATR):c.1776T>A (p.Gly592=) http://identifiers.org/clinvar/157966 ^@ NM_001184.3(ATR):c.1815T>C (p.Asp605=) http://identifiers.org/clinvar/157967 ^@ NM_001184.3(ATR):c.1885+39T>C http://identifiers.org/clinvar/157968 ^@ NM_001184.3(ATR):c.1950G>A (p.Glu650=) http://identifiers.org/clinvar/157969 ^@ NM_001184.3(ATR):c.2205C>T (p.His735=) http://identifiers.org/clinvar/157970 ^@ NM_001184.3(ATR):c.2290A>G (p.Lys764Glu) http://identifiers.org/clinvar/157971 ^@ NM_001184.3(ATR):c.2442A>G (p.Glu814=) http://identifiers.org/clinvar/157972 ^@ NM_001184.3(ATR):c.2688G>A (p.Leu896=) http://identifiers.org/clinvar/157973 ^@ NM_001184.3(ATR):c.2844A>C (p.Ala948=) http://identifiers.org/clinvar/157974 ^@ NM_001184.3(ATR):c.2875G>A (p.Val959Met) http://identifiers.org/clinvar/157975 ^@ NM_001184.3(ATR):c.3120G>A (p.Leu1040=) http://identifiers.org/clinvar/157976 ^@ NM_001184.3(ATR):c.3172-26T>A http://identifiers.org/clinvar/157977 ^@ NM_001184.3(ATR):c.3424A>G (p.Ser1142Gly) http://identifiers.org/clinvar/157978 ^@ NM_001184.3(ATR):c.3725+18A>G http://identifiers.org/clinvar/157979 ^@ NM_001184.3(ATR):c.3726-47A>G http://identifiers.org/clinvar/157980 ^@ NM_001184.3(ATR):c.3799G>A (p.Val1267Ile) http://identifiers.org/clinvar/157981 ^@ NM_001184.3(ATR):c.4002G>A (p.Gln1334=) http://identifiers.org/clinvar/157982 ^@ NM_001184.3(ATR):c.4200A>T (p.Leu1400=) http://identifiers.org/clinvar/157983 ^@ NM_001184.3(ATR):c.423T>C (p.Ile141=) http://identifiers.org/clinvar/157984 ^@ NM_001184.3(ATR):c.4306A>G (p.Asn1436Asp) http://identifiers.org/clinvar/157985 ^@ NM_001184.3(ATR):c.4351C>T (p.Arg1451Trp) http://identifiers.org/clinvar/157986 ^@ NM_001184.3(ATR):c.4383-47A>G http://identifiers.org/clinvar/157987 ^@ NM_001184.3(ATR):c.4641+15C>T http://identifiers.org/clinvar/157988 ^@ NM_001184.3(ATR):c.4641+9A>G http://identifiers.org/clinvar/157989 ^@ NM_001184.3(ATR):c.4835A>G (p.Asn1612Ser) http://identifiers.org/clinvar/157990 ^@ NM_001184.3(ATR):c.483A>G (p.Arg161=) http://identifiers.org/clinvar/157991 ^@ NM_001184.3(ATR):c.4852+21C>T http://identifiers.org/clinvar/157992 ^@ NM_001184.3(ATR):c.5208T>C (p.Tyr1736=) http://identifiers.org/clinvar/157993 ^@ NM_001184.3(ATR):c.5381-41C>T http://identifiers.org/clinvar/157994 ^@ NM_001184.3(ATR):c.5732A>G (p.Asn1911Ser) http://identifiers.org/clinvar/157995 ^@ NM_001184.3(ATR):c.5739-14G>T http://identifiers.org/clinvar/157996 ^@ NM_001184.3(ATR):c.5868C>T (p.Tyr1956=) http://identifiers.org/clinvar/157997 ^@ NM_001184.3(ATR):c.5898+25T>G http://identifiers.org/clinvar/157998 ^@ NM_001184.3(ATR):c.5898+32A>G http://identifiers.org/clinvar/157999 ^@ NM_001184.3(ATR):c.6339A>G (p.Val2113=) http://identifiers.org/clinvar/158000 ^@ NM_001184.3(ATR):c.6394T>G (p.Tyr2132Asp) http://identifiers.org/clinvar/158001 ^@ NM_001184.3(ATR):c.6961T>C (p.Phe2321Leu) http://identifiers.org/clinvar/158002 ^@ NM_001184.3(ATR):c.7041+4G>C http://identifiers.org/clinvar/158003 ^@ NM_001184.3(ATR):c.7300C>G (p.Pro2434Ala) http://identifiers.org/clinvar/158004 ^@ NM_001184.3(ATR):c.7725G>A (p.Ala2575=) http://identifiers.org/clinvar/158005 ^@ NM_001184.3(ATR):c.891G>C (p.Lys297Asn) http://identifiers.org/clinvar/158006 ^@ NM_001184.3(ATR):c.946G>A (p.Val316Ile) http://identifiers.org/clinvar/158007 ^@ NM_139343.2(BIN1):c.1132-7T>C http://identifiers.org/clinvar/158008 ^@ NM_139343.2(BIN1):c.1362G>T (p.Gly454=) http://identifiers.org/clinvar/158009 ^@ NM_139343.2(BIN1):c.1461C>T (p.Ser487=) http://identifiers.org/clinvar/158010 ^@ NM_139343.2(BIN1):c.1595C>T (p.Thr532Met) http://identifiers.org/clinvar/158011 ^@ NM_139343.2(BIN1):c.1625A>G (p.Lys542Arg) http://identifiers.org/clinvar/158012 ^@ NM_139343.2(BIN1):c.1710C>T (p.Asp570=) http://identifiers.org/clinvar/158013 ^@ NM_139343.2(BIN1):c.1713G>A (p.Trp571Ter) http://identifiers.org/clinvar/158014 ^@ NM_139343.2(BIN1):c.30G>A (p.Thr10=) http://identifiers.org/clinvar/158015 ^@ NM_139343.2(BIN1):c.486T>C (p.Thr162=) http://identifiers.org/clinvar/158016 ^@ NM_139343.2(BIN1):c.696C>A (p.Asn232Lys) http://identifiers.org/clinvar/158017 ^@ NM_139343.2(BIN1):c.698+10A>G http://identifiers.org/clinvar/158018 ^@ NM_139343.2(BIN1):c.714C>T (p.Tyr238=) http://identifiers.org/clinvar/158019 ^@ NM_139343.2(BIN1):c.775-4G>A http://identifiers.org/clinvar/158020 ^@ NM_139343.2(BIN1):c.858-12C>A http://identifiers.org/clinvar/158021 ^@ NM_139343.2(BIN1):c.888C>T (p.Ser296=) http://identifiers.org/clinvar/158022 ^@ NM_139343.2(BIN1):c.894G>A (p.Ser298=) http://identifiers.org/clinvar/158023 ^@ NM_139343.2(BIN1):c.957C>A (p.Ala319=) http://identifiers.org/clinvar/158024 ^@ NM_139343.2(BIN1):c.957C>G (p.Ala319=) http://identifiers.org/clinvar/158025 ^@ NM_139343.2(BIN1):c.957C>T (p.Ala319=) http://identifiers.org/clinvar/158026 ^@ NM_023073.3(C5orf42):c.1125A>G (p.Pro375=) http://identifiers.org/clinvar/158027 ^@ NM_023073.3(C5orf42):c.1737G>A (p.Ala579=) http://identifiers.org/clinvar/158028 ^@ NM_023073.3(C5orf42):c.1809T>C (p.Thr603=) http://identifiers.org/clinvar/158029 ^@ NM_023073.3(C5orf42):c.1883G>A (p.Arg628Lys) http://identifiers.org/clinvar/158030 ^@ NM_023073.3(C5orf42):c.3240C>T (p.Ala1080=) http://identifiers.org/clinvar/158031 ^@ NM_023073.3(C5orf42):c.3743G>A (p.Gly1248Asp) http://identifiers.org/clinvar/158032 ^@ NM_023073.3(C5orf42):c.378G>A (p.Gly126=) http://identifiers.org/clinvar/158033 ^@ NM_023073.3(C5orf42):c.3795T>A (p.Val1265=) http://identifiers.org/clinvar/158034 ^@ NM_023073.3(C5orf42):c.4080+27C>T http://identifiers.org/clinvar/158035 ^@ NM_023073.3(C5orf42):c.4134T>C (p.Pro1378=) http://identifiers.org/clinvar/158036 ^@ NM_023073.3(C5orf42):c.4310T>C (p.Ile1437Thr) http://identifiers.org/clinvar/158037 ^@ NM_023073.3(C5orf42):c.4698A>G (p.Leu1566=) http://identifiers.org/clinvar/158038 ^@ NM_023073.3(C5orf42):c.5314A>G (p.Ser1772Gly) http://identifiers.org/clinvar/158039 ^@ NM_023073.3(C5orf42):c.5343A>T (p.Thr1781=) http://identifiers.org/clinvar/158040 ^@ NM_023073.3(C5orf42):c.5381C>T (p.Pro1794Leu) http://identifiers.org/clinvar/158041 ^@ NM_023073.3(C5orf42):c.5421G>A (p.Lys1807=) http://identifiers.org/clinvar/158042 ^@ NM_023073.3(C5orf42):c.5512A>G (p.Thr1838Ala) http://identifiers.org/clinvar/158043 ^@ NM_023073.3(C5orf42):c.5571-40C>G http://identifiers.org/clinvar/158044 ^@ NM_023073.3(C5orf42):c.570+32G>A http://identifiers.org/clinvar/158045 ^@ NM_023073.3(C5orf42):c.5900+7G>T http://identifiers.org/clinvar/158046 ^@ NM_023073.3(C5orf42):c.5901-3T>C http://identifiers.org/clinvar/158047 ^@ NM_023073.3(C5orf42):c.6051T>C (p.Ala2017=) http://identifiers.org/clinvar/158048 ^@ NM_023073.3(C5orf42):c.6098T>G (p.Phe2033Cys) http://identifiers.org/clinvar/158049 ^@ NM_023073.3(C5orf42):c.6427A>G (p.Ile2143Val) http://identifiers.org/clinvar/158050 ^@ NM_023073.3(C5orf42):c.6905C>T (p.Thr2302Met) http://identifiers.org/clinvar/158051 ^@ NM_023073.3(C5orf42):c.765A>C (p.Gly255=) http://identifiers.org/clinvar/158052 ^@ NM_023073.3(C5orf42):c.7775C>T (p.Pro2592Leu) http://identifiers.org/clinvar/158053 ^@ NM_023073.3(C5orf42):c.81+20C>T http://identifiers.org/clinvar/158054 ^@ NM_023073.3(C5orf42):c.8124C>T (p.Asp2708=) http://identifiers.org/clinvar/158055 ^@ NM_023073.3(C5orf42):c.8182C>A (p.Pro2728Thr) http://identifiers.org/clinvar/158056 ^@ NM_023073.3(C5orf42):c.8502-3A>T http://identifiers.org/clinvar/158057 ^@ NM_023073.3(C5orf42):c.8512C>T (p.His2838Tyr) http://identifiers.org/clinvar/158058 ^@ NM_023073.3(C5orf42):c.8607A>G (p.Thr2869=) http://identifiers.org/clinvar/158059 ^@ NM_023073.3(C5orf42):c.8976C>G (p.Pro2992=) http://identifiers.org/clinvar/158060 ^@ NM_023073.3(C5orf42):c.9184G>A (p.Gly3062Arg) http://identifiers.org/clinvar/158061 ^@ NM_023073.3(C5orf42):c.9362C>T (p.Thr3121Met) http://identifiers.org/clinvar/158062 ^@ NM_023073.3(C5orf42):c.94G>A (p.Val32Ile) http://identifiers.org/clinvar/158063 ^@ NM_003688.3(CASK):c.1234-22G>A http://identifiers.org/clinvar/158064 ^@ NM_003688.3(CASK):c.1234-30G>A http://identifiers.org/clinvar/158065 ^@ NM_003688.3(CASK):c.1269C>T (p.Asn423=) http://identifiers.org/clinvar/158066 ^@ NM_003688.3(CASK):c.1644_1645delAG (p.Val549Glyfs) http://identifiers.org/clinvar/158067 ^@ NM_003688.3(CASK):c.2039G>C (p.Trp680Ser) http://identifiers.org/clinvar/158068 ^@ NM_003688.3(CASK):c.2040-9A>G http://identifiers.org/clinvar/158069 ^@ NM_003688.3(CASK):c.2041C>T (p.Arg681Ter) http://identifiers.org/clinvar/158070 ^@ NM_003688.3(CASK):c.2074C>T (p.Gln692Ter) http://identifiers.org/clinvar/158071 ^@ NM_003688.3(CASK):c.20_27delTGTTCGAG (p.Leu7Argfs) http://identifiers.org/clinvar/158072 ^@ NM_003688.3(CASK):c.2183A>G (p.Lys728Arg) http://identifiers.org/clinvar/158073 ^@ NM_003688.3(CASK):c.2427G>A (p.Ala809=) http://identifiers.org/clinvar/158074 ^@ NM_003688.3(CASK):c.2470C>T (p.Gln824Ter) http://identifiers.org/clinvar/158075 ^@ NM_003688.3(CASK):c.429+11419A>G http://identifiers.org/clinvar/158077 ^@ NM_003688.3(CASK):c.430-2A>T http://identifiers.org/clinvar/158078 ^@ NM_003688.3(CASK):c.600A>G (p.Val200=) http://identifiers.org/clinvar/158079 ^@ NM_003051.3(SLC16A1):c.937C>T (p.Arg313Ter) http://identifiers.org/clinvar/158080 ^@ NM_003688.3(CASK):c.617G>A (p.Gly206Asp) http://identifiers.org/clinvar/158081 ^@ NM_003051.3(SLC16A1):c.586C>T (p.Arg196Ter) http://identifiers.org/clinvar/158082 ^@ NM_003688.3(CASK):c.708+1G>A http://identifiers.org/clinvar/158083 ^@ NM_003051.3(SLC16A1):c.499delG (p.Val167Phefs) http://identifiers.org/clinvar/158084 ^@ NM_003688.3(CASK):c.764G>A (p.Arg255His) http://identifiers.org/clinvar/158085 ^@ NM_003051.3(SLC16A1):c.938G>A (p.Arg313Gln) http://identifiers.org/clinvar/158086 ^@ NM_003688.3(CASK):c.82C>T (p.Arg28Ter) http://identifiers.org/clinvar/158087 ^@ NM_003688.3(CASK):c.880C>T (p.Gln294Ter) http://identifiers.org/clinvar/158088 ^@ NM_001136191.2(KANK2):c.2009C>T (p.Ala670Val) http://identifiers.org/clinvar/158089 ^@ NM_001080414.3(CCDC88C):c.1020C>T (p.His340=) http://identifiers.org/clinvar/158090 ^@ NM_001080414.3(CCDC88C):c.114C>T (p.Tyr38=) http://identifiers.org/clinvar/158091 ^@ NM_001080414.3(CCDC88C):c.1608A>G (p.Arg536=) http://identifiers.org/clinvar/158092 ^@ NM_001080414.3(CCDC88C):c.1773G>A (p.Glu591=) http://identifiers.org/clinvar/158093 ^@ NM_001080414.3(CCDC88C):c.1909C>G (p.Leu637Val) http://identifiers.org/clinvar/158094 ^@ NM_001080414.3(CCDC88C):c.1962G>A (p.Leu654=) http://identifiers.org/clinvar/158095 ^@ NM_001080414.3(CCDC88C):c.2204G>A (p.Arg735His) http://identifiers.org/clinvar/158096 ^@ NM_001080414.3(CCDC88C):c.2432C>A (p.Ala811Glu) http://identifiers.org/clinvar/158097 ^@ NM_001080414.3(CCDC88C):c.2456A>G (p.Asp819Gly) http://identifiers.org/clinvar/158098 ^@ NM_001080414.3(CCDC88C):c.3009A>G (p.Leu1003=) http://identifiers.org/clinvar/158099 ^@ NM_001080414.3(CCDC88C):c.3083C>T (p.Ala1028Val) http://identifiers.org/clinvar/158100 ^@ NM_000237.2(LPL):c.1306G>A (p.Gly436Arg) http://identifiers.org/clinvar/158101 ^@ NM_004996.3(ABCC1):c.855G>A (p.Pro285=) http://identifiers.org/clinvar/158102 ^@ NM_004996.3(ABCC1):c.352-79G>A http://identifiers.org/clinvar/158103 ^@ NM_004996.3(ABCC1):c.4551G>A (p.Gln1517=) http://identifiers.org/clinvar/158104 ^@ NM_000237.2(LPL):c.1302A>T (p.Lys434Asn) http://identifiers.org/clinvar/158105 ^@ NM_001080414.3(CCDC88C):c.1131C>T (p.Gly377=) http://identifiers.org/clinvar/158106 ^@ NM_001080414.3(CCDC88C):c.322G>A (p.Gly108Ser) http://identifiers.org/clinvar/158107 ^@ NM_001080414.3(CCDC88C):c.3372G>A (p.Thr1124=) http://identifiers.org/clinvar/158108 ^@ NM_001080414.3(CCDC88C):c.3393G>T (p.Ala1131=) http://identifiers.org/clinvar/158109 ^@ NM_001080414.3(CCDC88C):c.3636-14C>T http://identifiers.org/clinvar/158110 ^@ NM_001080414.3(CCDC88C):c.3966+12G>A http://identifiers.org/clinvar/158111 ^@ NM_001080414.3(CCDC88C):c.3969G>A (p.Leu1323=) http://identifiers.org/clinvar/158112 ^@ NM_001080414.3(CCDC88C):c.4107G>A (p.Gln1369=) http://identifiers.org/clinvar/158113 ^@ NM_001080414.3(CCDC88C):c.4621C>T (p.Arg1541Cys) http://identifiers.org/clinvar/158114 ^@ NM_001080414.3(CCDC88C):c.4975C>A (p.Arg1659=) http://identifiers.org/clinvar/158115 ^@ NM_001080414.3(CCDC88C):c.5654G>A (p.Arg1885His) http://identifiers.org/clinvar/158116 ^@ NM_001080414.3(CCDC88C):c.5948G>C (p.Gly1983Ala) http://identifiers.org/clinvar/158117 ^@ NM_001080414.3(CCDC88C):c.5954C>G (p.Ser1985Cys) http://identifiers.org/clinvar/158118 ^@ NM_001080414.3(CCDC88C):c.5975T>C (p.Leu1992Pro) http://identifiers.org/clinvar/158119 ^@ NM_001080414.3(CCDC88C):c.5980C>G (p.Arg1994Gly) http://identifiers.org/clinvar/158120 ^@ NM_001080414.3(CCDC88C):c.60+8C>A http://identifiers.org/clinvar/158121 ^@ NM_001080414.3(CCDC88C):c.754C>G (p.Leu252Val) http://identifiers.org/clinvar/158122 ^@ NM_001080414.3(CCDC88C):c.809+11G>A http://identifiers.org/clinvar/158124 ^@ NM_001080414.3(CCDC88C):c.969C>T (p.Asn323=) http://identifiers.org/clinvar/158125 ^@ NM_018249.5(CDK5RAP2):c.1000-32A>G http://identifiers.org/clinvar/158126 ^@ NM_018249.5(CDK5RAP2):c.1079C>T (p.Thr360Ile) http://identifiers.org/clinvar/158127 ^@ NM_018249.5(CDK5RAP2):c.1093-27A>G http://identifiers.org/clinvar/158333 ^@ NM_000748.2(CHRNB2):c.210+9A>G http://identifiers.org/clinvar/158330 ^@ NM_000748.2(CHRNB2):c.1191G>C (p.Gln397His) http://identifiers.org/clinvar/158331 ^@ NM_000748.2(CHRNB2):c.1338+14G>T http://identifiers.org/clinvar/158332 ^@ NM_000748.2(CHRNB2):c.1432T>C (p.Phe478Leu) http://identifiers.org/clinvar/159923 ^@ NM_006516.2(SLC2A1):c.1268A>G (p.Gln423Arg) http://identifiers.org/clinvar/159922 ^@ NM_006516.2(SLC2A1):c.1089delG (p.Trp363Terfs) http://identifiers.org/clinvar/159920 ^@ NM_006516.2(SLC2A1):c.1007_1009delTGC (p.Leu336del) http://identifiers.org/clinvar/159930 ^@ NM_006516.2(SLC2A1):c.847C>T (p.Gln283Ter) http://identifiers.org/clinvar/159929 ^@ NM_006516.2(SLC2A1):c.764A>C (p.Lys255Thr) http://identifiers.org/clinvar/159928 ^@ NM_006516.2(SLC2A1):c.748C>T (p.Gln250Ter) http://identifiers.org/clinvar/159927 ^@ NM_006516.2(SLC2A1):c.746G>A (p.Arg249Gln) http://identifiers.org/clinvar/159926 ^@ NM_006516.2(SLC2A1):c.680-10G>T http://identifiers.org/clinvar/159925 ^@ NM_006516.2(SLC2A1):c.679+4C>A http://identifiers.org/clinvar/159921 ^@ NM_006516.2(SLC2A1):c.100A>G (p.Asn34Asp) http://identifiers.org/clinvar/159924 ^@ NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) http://identifiers.org/clinvar/159919 ^@ NM_006516.2(SLC2A1):c.-2C>T http://identifiers.org/clinvar/160066 ^@ NM_003035.2(STIL):c.3483T>G (p.Pro1161=) http://identifiers.org/clinvar/160065 ^@ NM_003035.2(STIL):c.3427G>A (p.Asp1143Asn) http://identifiers.org/clinvar/160064 ^@ NM_003035.2(STIL):c.3426C>T (p.Pro1142=) http://identifiers.org/clinvar/160063 ^@ NM_003035.2(STIL):c.3375A>G (p.Arg1125=) http://identifiers.org/clinvar/160062 ^@ NM_003035.2(STIL):c.3154G>A (p.Gly1052Ser) http://identifiers.org/clinvar/160061 ^@ NM_003035.2(STIL):c.3064G>T (p.Val1022Leu) http://identifiers.org/clinvar/160060 ^@ NM_003035.2(STIL):c.2948C>T (p.Thr983Ile) http://identifiers.org/clinvar/160059 ^@ NM_003035.2(STIL):c.2852G>A (p.Ser951Asn) http://identifiers.org/clinvar/160057 ^@ NM_003035.2(STIL):c.2615+27A>G http://identifiers.org/clinvar/160056 ^@ NM_003035.2(STIL):c.2542G>A (p.Val848Ile) http://identifiers.org/clinvar/160054 ^@ NM_001048166.1(STIL):c.2021_2023delGTT (p.Cys674del) http://identifiers.org/clinvar/160053 ^@ NM_003035.2(STIL):c.2017A>G (p.Ser673Gly) http://identifiers.org/clinvar/160052 ^@ NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) http://identifiers.org/clinvar/160051 ^@ NM_003035.2(STIL):c.1452C>G (p.Ser484=) http://identifiers.org/clinvar/160050 ^@ NM_003035.2(STIL):c.1137T>C (p.Ser379=) http://identifiers.org/clinvar/160049 ^@ NM_003035.2(STIL):c.1136C>T (p.Ser379Phe) http://identifiers.org/clinvar/160048 ^@ NM_003035.2(STIL):c.1069G>A (p.Ala357Thr) http://identifiers.org/clinvar/160047 ^@ NM_003035.2(STIL):c.1024-4T>C http://identifiers.org/clinvar/160069 ^@ NM_003035.2(STIL):c.895T>A (p.Phe299Ile) http://identifiers.org/clinvar/160068 ^@ NM_003035.2(STIL):c.467A>G (p.His156Arg) http://identifiers.org/clinvar/160055 ^@ NM_003035.2(STIL):c.227C>T (p.Ser76Leu) http://identifiers.org/clinvar/160067 ^@ NM_003035.2(STIL):c.36G>A (p.Met12Ile) http://identifiers.org/clinvar/160058 ^@ NM_003035.2(STIL):c.26G>A (p.Arg9Gln) http://identifiers.org/clinvar/160325 ^@ NM_014795.3(ZEB2):c.3444C>T (p.Tyr1148=) http://identifiers.org/clinvar/160324 ^@ NM_014795.3(ZEB2):c.3141G>C (p.Arg1047Ser) http://identifiers.org/clinvar/160323 ^@ NM_014795.3(ZEB2):c.2761C>T (p.Arg921Ter) http://identifiers.org/clinvar/160322 ^@ NM_014795.3(ZEB2):c.2501delA (p.Lys834Argfs) http://identifiers.org/clinvar/160321 ^@ NM_014795.3(ZEB2):c.2352T>C (p.Ser784=) http://identifiers.org/clinvar/160320 ^@ NM_014795.3(ZEB2):c.2329C>T (p.His777Tyr) http://identifiers.org/clinvar/160319 ^@ NM_014795.3(ZEB2):c.1956C>T (p.Tyr652=) http://identifiers.org/clinvar/160318 ^@ NM_014795.3(ZEB2):c.1542G>A (p.Pro514=) http://identifiers.org/clinvar/160317 ^@ NM_014795.3(ZEB2):c.1438G>T (p.Ala480Ser) http://identifiers.org/clinvar/160330 ^@ NM_014795.3(ZEB2):c.917-21T>C http://identifiers.org/clinvar/160329 ^@ NM_014795.3(ZEB2):c.904C>T (p.Arg302Ter) http://identifiers.org/clinvar/160328 ^@ NM_014795.3(ZEB2):c.823C>T (p.Gln275Ter) http://identifiers.org/clinvar/160327 ^@ NM_014795.3(ZEB2):c.747G>A (p.Thr249=) http://identifiers.org/clinvar/160326 ^@ NM_014795.3(ZEB2):c.550_568del19 (p.Ser184Argfs) http://identifiers.org/clinvar/160332 ^@ NM_014795.3(ZEB2):c.9G>C (p.Gln3His) http://identifiers.org/clinvar/160331 ^@ NM_014795.3(ZEB2):c.9G>A (p.Gln3=) http://identifiers.org/clinvar/159485 ^@ NM_002552.4(ORC4):c.604T>G (p.Leu202Val) http://identifiers.org/clinvar/159484 ^@ NM_002552.4(ORC4):c.287A>G (p.Gln96Arg) http://identifiers.org/clinvar/159483 ^@ NM_002552.4(ORC4):c.233A>G (p.Asn78Ser) http://identifiers.org/clinvar/159482 ^@ NM_002552.4(ORC4):c.166C>G (p.Leu56Val) http://identifiers.org/clinvar/160233 ^@ NM_000463.2(UGT1A1):c.141C>A (p.Ile47=) http://identifiers.org/clinvar/160234 ^@ NM_000463.2(UGT1A1):c.141C>T (p.Ile47=) http://identifiers.org/clinvar/160236 ^@ NM_000463.2(UGT1A1):c.322C>T (p.Arg108Cys) http://identifiers.org/clinvar/160237 ^@ NM_000463.2(UGT1A1):c.476T>C (p.Ile159Thr) http://identifiers.org/clinvar/160238 ^@ NM_000463.2(UGT1A1):c.479T>A (p.Val160Glu) http://identifiers.org/clinvar/160239 ^@ NM_000463.2(UGT1A1):c.674T>G (p.Val225Gly) http://identifiers.org/clinvar/160240 ^@ NM_000463.2(UGT1A1):c.748T>C (p.Ser250Pro) http://identifiers.org/clinvar/160241 ^@ NM_000463.2(UGT1A1):c.996+15T>C http://identifiers.org/clinvar/160229 ^@ NM_000463.2(UGT1A1):c.1084+1G>T http://identifiers.org/clinvar/160230 ^@ NM_000463.2(UGT1A1):c.1231G>T (p.Val411Leu) http://identifiers.org/clinvar/160231 ^@ NM_000463.2(UGT1A1):c.1354G>T (p.Val452Leu) http://identifiers.org/clinvar/160232 ^@ NM_000463.2(UGT1A1):c.1413G>A (p.Ala471=) http://identifiers.org/clinvar/160235 ^@ NM_000463.2(UGT1A1):c.1428C>T (p.Pro476=) http://identifiers.org/clinvar/158420 ^@ NM_152783.4(D2HGDH):c.43C>G (p.Arg15Gly) http://identifiers.org/clinvar/158414 ^@ NM_152783.4(D2HGDH):c.164G>A (p.Arg55Gln) http://identifiers.org/clinvar/158416 ^@ NM_152783.4(D2HGDH):c.292+9G>A http://identifiers.org/clinvar/158415 ^@ NM_152783.4(D2HGDH):c.292+28T>G http://identifiers.org/clinvar/158418 ^@ NM_152783.4(D2HGDH):c.293-23A>T http://identifiers.org/clinvar/158417 ^@ NM_152783.4(D2HGDH):c.293-18A>G http://identifiers.org/clinvar/158419 ^@ NM_152783.4(D2HGDH):c.423C>T (p.Pro141=) http://identifiers.org/clinvar/158421 ^@ NM_152783.4(D2HGDH):c.490+40T>C http://identifiers.org/clinvar/158422 ^@ NM_152783.4(D2HGDH):c.566C>T (p.Pro189Leu) http://identifiers.org/clinvar/158423 ^@ NM_152783.4(D2HGDH):c.685-9T>C http://identifiers.org/clinvar/158404 ^@ NM_152783.4(D2HGDH):c.1012G>A (p.Val338Ile) http://identifiers.org/clinvar/158405 ^@ NM_152783.4(D2HGDH):c.1066C>T (p.His356Tyr) http://identifiers.org/clinvar/158406 ^@ NM_152783.4(D2HGDH):c.1082C>T (p.Ala361Val) http://identifiers.org/clinvar/158407 ^@ NM_152783.4(D2HGDH):c.1107T>C (p.Asp369=) http://identifiers.org/clinvar/158408 ^@ NM_152783.4(D2HGDH):c.1184G>A (p.Arg395Gln) http://identifiers.org/clinvar/158409 ^@ NM_152783.4(D2HGDH):c.1258G>A (p.Ala420Thr) http://identifiers.org/clinvar/158410 ^@ NM_152783.4(D2HGDH):c.1276G>A (p.Ala426Thr) http://identifiers.org/clinvar/158411 ^@ NM_152783.4(D2HGDH):c.1307-24A>G http://identifiers.org/clinvar/158412 ^@ NM_152783.4(D2HGDH):c.1377C>A (p.Pro459=) http://identifiers.org/clinvar/158413 ^@ NM_152783.4(D2HGDH):c.1395G>A (p.Thr465=) http://identifiers.org/clinvar/160044 ^@ NM_201647.2(STAMBP):c.12T>C (p.His4=) http://identifiers.org/clinvar/160045 ^@ NM_201647.2(STAMBP):c.499G>A (p.Glu167Lys) http://identifiers.org/clinvar/160046 ^@ NM_201647.2(STAMBP):c.921G>T (p.Gly307=) http://identifiers.org/clinvar/160040 ^@ NM_201647.2(STAMBP):c.1218+12T>C http://identifiers.org/clinvar/160041 ^@ NM_201647.2(STAMBP):c.1218+20A>G http://identifiers.org/clinvar/160042 ^@ NM_201647.2(STAMBP):c.1230C>T (p.His410=) http://identifiers.org/clinvar/160043 ^@ NM_201647.2(STAMBP):c.1259_1261delTCA (p.Ile420del) http://identifiers.org/clinvar/160116 ^@ NM_025265.3(TSEN2):c.66A>C (p.Pro22=) http://identifiers.org/clinvar/160102 ^@ NM_025265.3(TSEN2):c.108A>G (p.Glu36=) http://identifiers.org/clinvar/160103 ^@ NM_025265.3(TSEN2):c.122G>C (p.Arg41Pro) http://identifiers.org/clinvar/160104 ^@ NM_025265.3(TSEN2):c.122G>T (p.Arg41Leu) http://identifiers.org/clinvar/160109 ^@ NM_025265.3(TSEN2):c.162G>C (p.Ala54=) http://identifiers.org/clinvar/160110 ^@ NM_025265.3(TSEN2):c.272-4C>G http://identifiers.org/clinvar/160111 ^@ NM_025265.3(TSEN2):c.322G>T (p.Val108Phe) http://identifiers.org/clinvar/160112 ^@ NM_025265.3(TSEN2):c.389A>C (p.Lys130Thr) http://identifiers.org/clinvar/160113 ^@ NM_025265.3(TSEN2):c.560G>C (p.Arg187Pro) http://identifiers.org/clinvar/160114 ^@ NM_025265.3(TSEN2):c.608C>T (p.Thr203Ile) http://identifiers.org/clinvar/160115 ^@ NM_025265.3(TSEN2):c.653C>T (p.Pro218Leu) http://identifiers.org/clinvar/160117 ^@ NM_025265.3(TSEN2):c.909+34G>A http://identifiers.org/clinvar/160101 ^@ NM_025265.3(TSEN2):c.1013C>G (p.Thr338Arg) http://identifiers.org/clinvar/160105 ^@ NM_025265.3(TSEN2):c.1272T>C (p.Ile424=) http://identifiers.org/clinvar/160106 ^@ NM_025265.3(TSEN2):c.1332A>G (p.Lys444=) http://identifiers.org/clinvar/160107 ^@ NM_025265.3(TSEN2):c.1350G>A (p.Leu450=) http://identifiers.org/clinvar/160108 ^@ NM_025265.3(TSEN2):c.1389C>T (p.Asp463=) http://identifiers.org/clinvar/160316 ^@ NM_003392.4(WNT5A):c.487G>C (p.Gly163Arg) http://identifiers.org/clinvar/160315 ^@ NM_003392.4(WNT5A):c.405G>T (p.Thr135=) http://identifiers.org/clinvar/160314 ^@ NM_003392.4(WNT5A):c.391+11A>G http://identifiers.org/clinvar/160311 ^@ NM_003392.4(WNT5A):c.141-8C>G http://identifiers.org/clinvar/160313 ^@ NM_003392.4(WNT5A):c.141-9C>T http://identifiers.org/clinvar/160312 ^@ NM_003392.4(WNT5A):c.141-9C>G http://identifiers.org/clinvar/160310 ^@ NM_003392.4(WNT5A):c.140+14A>G http://identifiers.org/clinvar/159257 ^@ NM_004387.3(NKX2-5):c.783delC (p.Ala262Argfs) http://identifiers.org/clinvar/159256 ^@ NM_004387.3(NKX2-5):c.606G>C (p.Leu202=) http://identifiers.org/clinvar/159255 ^@ NM_004387.3(NKX2-5):c.471_472delCA (p.Phe157Leufs) http://identifiers.org/clinvar/159259 ^@ NM_022455.4(NSD1):c.108A>G (p.Gln36=) http://identifiers.org/clinvar/159265 ^@ NM_022455.4(NSD1):c.142A>G (p.Met48Val) http://identifiers.org/clinvar/159308 ^@ NM_022455.4(NSD1):c.339C>T (p.Cys113=) http://identifiers.org/clinvar/159309 ^@ NM_022455.4(NSD1):c.352C>G (p.Pro118Ala) http://identifiers.org/clinvar/159317 ^@ NM_022455.4(NSD1):c.395G>C (p.Cys132Ser) http://identifiers.org/clinvar/159441 ^@ NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) http://identifiers.org/clinvar/159442 ^@ NM_022455.4(NSD1):c.767C>T (p.Ala256Val) http://identifiers.org/clinvar/159258 ^@ NM_022455.4(NSD1):c.1077delG (p.Arg359Serfs) http://identifiers.org/clinvar/159260 ^@ NM_022455.4(NSD1):c.1149C>T (p.Ile383=) http://identifiers.org/clinvar/159261 ^@ NM_022455.4(NSD1):c.1224A>G (p.Gly408=) http://identifiers.org/clinvar/159262 ^@ NM_022455.4(NSD1):c.1237-10T>C http://identifiers.org/clinvar/159263 ^@ NM_022455.4(NSD1):c.1262G>A (p.Trp421Ter) http://identifiers.org/clinvar/159264 ^@ NM_022455.4(NSD1):c.1428G>A (p.Leu476=) http://identifiers.org/clinvar/159266 ^@ NM_022455.4(NSD1):c.1456delT (p.Ser486Leufs) http://identifiers.org/clinvar/159267 ^@ NM_022455.4(NSD1):c.1471G>A (p.Glu491Lys) http://identifiers.org/clinvar/159268 ^@ NM_022455.4(NSD1):c.1495G>A (p.Ala499Thr) http://identifiers.org/clinvar/159269 ^@ NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) http://identifiers.org/clinvar/159270 ^@ NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) http://identifiers.org/clinvar/159271 ^@ NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) http://identifiers.org/clinvar/159272 ^@ NM_022455.4(NSD1):c.1811G>T (p.Arg604Leu) http://identifiers.org/clinvar/159273 ^@ NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter) http://identifiers.org/clinvar/159274 ^@ NM_022455.4(NSD1):c.1980C>T (p.Asn660=) http://identifiers.org/clinvar/159275 ^@ NM_022455.4(NSD1):c.2014_2018delACAGA (p.Thr672Glufs) http://identifiers.org/clinvar/159276 ^@ NM_022455.4(NSD1):c.2048delA (p.Lys683Argfs) http://identifiers.org/clinvar/159277 ^@ NM_022455.4(NSD1):c.2049_2053delGATAA (p.Ile684Valfs) http://identifiers.org/clinvar/159278 ^@ NM_022455.4(NSD1):c.2064delG (p.Arg688Serfs) http://identifiers.org/clinvar/159279 ^@ NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) http://identifiers.org/clinvar/159280 ^@ NM_022455.4(NSD1):c.2124_2127delTACA (p.His708Glnfs) http://identifiers.org/clinvar/159281 ^@ NM_022455.4(NSD1):c.2169C>T (p.Thr723=) http://identifiers.org/clinvar/159282 ^@ NM_022455.4(NSD1):c.2242A>G (p.Asn748Asp) http://identifiers.org/clinvar/159283 ^@ NM_022455.4(NSD1):c.2276C>G (p.Ser759Ter) http://identifiers.org/clinvar/159284 ^@ NM_022455.4(NSD1):c.2295C>T (p.Asn765=) http://identifiers.org/clinvar/159285 ^@ NM_022455.4(NSD1):c.2295delC (p.Ser766Argfs) http://identifiers.org/clinvar/159286 ^@ NM_022455.4(NSD1):c.2339C>A (p.Ser780Ter) http://identifiers.org/clinvar/159287 ^@ NM_022455.4(NSD1):c.2386_2389delGAAA (p.Glu796Ilefs) http://identifiers.org/clinvar/159288 ^@ NM_022455.4(NSD1):c.2639delG (p.Gly880Glufs) http://identifiers.org/clinvar/159289 ^@ NM_022455.4(NSD1):c.2654C>A (p.Ser885Ter) http://identifiers.org/clinvar/159290 ^@ NM_022455.4(NSD1):c.2696T>C (p.Ile899Thr) http://identifiers.org/clinvar/159291 ^@ NM_022455.4(NSD1):c.2827delG (p.Asp943Thrfs) http://identifiers.org/clinvar/159292 ^@ NM_022455.4(NSD1):c.2925C>T (p.Ser975=) http://identifiers.org/clinvar/159293 ^@ NM_022455.4(NSD1):c.2944G>C (p.Gly982Arg) http://identifiers.org/clinvar/159294 ^@ NM_022455.4(NSD1):c.2954_2955delCT (p.Ser985Cysfs) http://identifiers.org/clinvar/159295 ^@ NM_022455.4(NSD1):c.2956delG (p.Ala986Hisfs) http://identifiers.org/clinvar/159296 ^@ NM_022455.4(NSD1):c.3000C>T (p.Ser1000=) http://identifiers.org/clinvar/159297 ^@ NM_022455.4(NSD1):c.3046_3047delGT (p.Val1016Tyrfs) http://identifiers.org/clinvar/159298 ^@ NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter) http://identifiers.org/clinvar/159299 ^@ NM_022455.4(NSD1):c.3089T>C (p.Leu1030Ser) http://identifiers.org/clinvar/159300 ^@ NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter) http://identifiers.org/clinvar/159301 ^@ NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) http://identifiers.org/clinvar/159302 ^@ NM_022455.4(NSD1):c.3185_3186delTG (p.Val1062Aspfs) http://identifiers.org/clinvar/159303 ^@ NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) http://identifiers.org/clinvar/159304 ^@ NM_022455.4(NSD1):c.3271C>A (p.Leu1091Ile) http://identifiers.org/clinvar/159305 ^@ NM_022455.4(NSD1):c.3293delC (p.Thr1098Lysfs) http://identifiers.org/clinvar/159306 ^@ NM_022455.4(NSD1):c.3295delA (p.Ser1099Valfs) http://identifiers.org/clinvar/159307 ^@ NM_022455.4(NSD1):c.3383_3384delCT (p.Ser1128Phefs) http://identifiers.org/clinvar/159310 ^@ NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser) http://identifiers.org/clinvar/159311 ^@ NM_022455.4(NSD1):c.3578_3582delGTGAC (p.Ser1193Thrfs) http://identifiers.org/clinvar/159312 ^@ NM_022455.4(NSD1):c.3659_3660delAG (p.Glu1220Alafs) http://identifiers.org/clinvar/159313 ^@ NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr) http://identifiers.org/clinvar/159314 ^@ NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) http://identifiers.org/clinvar/159315 ^@ NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) http://identifiers.org/clinvar/159316 ^@ NM_022455.4(NSD1):c.3888A>G (p.Lys1296=) http://identifiers.org/clinvar/159318 ^@ NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter) http://identifiers.org/clinvar/159319 ^@ NM_022455.4(NSD1):c.3992A>G (p.Asp1331Gly) http://identifiers.org/clinvar/159320 ^@ NM_022455.4(NSD1):c.4057G>T (p.Glu1353Ter) http://identifiers.org/clinvar/159321 ^@ NM_022455.4(NSD1):c.4062C>T (p.Gly1354=) http://identifiers.org/clinvar/159322 ^@ NM_022455.4(NSD1):c.4076C>G (p.Ser1359Ter) http://identifiers.org/clinvar/159323 ^@ NM_022455.4(NSD1):c.4192+2T>G http://identifiers.org/clinvar/159324 ^@ NM_022455.4(NSD1):c.4301delA (p.Lys1434Serfs) http://identifiers.org/clinvar/159325 ^@ NM_022455.4(NSD1):c.4328A>G (p.Asn1443Ser) http://identifiers.org/clinvar/159326 ^@ NM_022455.4(NSD1):c.4363A>G (p.Lys1455Glu) http://identifiers.org/clinvar/159327 ^@ NM_022455.4(NSD1):c.4376delG (p.Gly1459Glufs) http://identifiers.org/clinvar/159328 ^@ NM_022455.4(NSD1):c.4378+1G>A http://identifiers.org/clinvar/159329 ^@ NM_022455.4(NSD1):c.4378+7A>G http://identifiers.org/clinvar/159330 ^@ NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter) http://identifiers.org/clinvar/159331 ^@ NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter) http://identifiers.org/clinvar/159332 ^@ NM_022455.4(NSD1):c.4444C>T (p.Gln1482Ter) http://identifiers.org/clinvar/159333 ^@ NM_022455.4(NSD1):c.4493C>G (p.Ser1498Ter) http://identifiers.org/clinvar/159334 ^@ NM_022455.4(NSD1):c.4498-3A>G http://identifiers.org/clinvar/159335 ^@ NM_022455.4(NSD1):c.4520C>T (p.Thr1507Met) http://identifiers.org/clinvar/159336 ^@ NM_022455.4(NSD1):c.4529delG (p.Ser1510Thrfs) http://identifiers.org/clinvar/159337 ^@ NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn) http://identifiers.org/clinvar/159338 ^@ NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr) http://identifiers.org/clinvar/159339 ^@ NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) http://identifiers.org/clinvar/159340 ^@ NM_022455.4(NSD1):c.4681C>T (p.Gln1561Ter) http://identifiers.org/clinvar/159341 ^@ NM_022455.4(NSD1):c.4705delG (p.Glu1569Serfs) http://identifiers.org/clinvar/159342 ^@ NM_022455.4(NSD1):c.4731_4732delAA (p.Gly1579Lysfs) http://identifiers.org/clinvar/159343 ^@ NM_022455.4(NSD1):c.4745delT (p.Ile1582Thrfs) http://identifiers.org/clinvar/159344 ^@ NM_022455.4(NSD1):c.4753G>T (p.Glu1585Ter) http://identifiers.org/clinvar/159345 ^@ NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr) http://identifiers.org/clinvar/159346 ^@ NM_022455.4(NSD1):c.4844A>C (p.Tyr1615Ser) http://identifiers.org/clinvar/159347 ^@ NM_022455.4(NSD1):c.4855T>A (p.Cys1619Ser) http://identifiers.org/clinvar/159348 ^@ NM_022455.4(NSD1):c.4855T>G (p.Cys1619Gly) http://identifiers.org/clinvar/159349 ^@ NM_022455.4(NSD1):c.4883T>C (p.Met1628Thr) http://identifiers.org/clinvar/159350 ^@ NM_022455.4(NSD1):c.4907C>T (p.Ser1636Phe) http://identifiers.org/clinvar/159353 ^@ NM_022455.4(NSD1):c.4966G>T (p.Gly1656Cys) http://identifiers.org/clinvar/159352 ^@ NM_022455.4(NSD1):c.4966+1G>A http://identifiers.org/clinvar/159351 ^@ NM_022455.4(NSD1):c.4966+15T>C http://identifiers.org/clinvar/159354 ^@ NM_022455.4(NSD1):c.4967-2A>T http://identifiers.org/clinvar/159355 ^@ NM_022455.4(NSD1):c.4987C>T (p.Arg1663Cys) http://identifiers.org/clinvar/159356 ^@ NM_022455.4(NSD1):c.5021G>A (p.Cys1674Tyr) http://identifiers.org/clinvar/159357 ^@ NM_022455.4(NSD1):c.5082C>T (p.Thr1694=) http://identifiers.org/clinvar/159358 ^@ NM_022455.4(NSD1):c.5098C>T (p.Arg1700Ter) http://identifiers.org/clinvar/159359 ^@ NM_022455.4(NSD1):c.5141C>G (p.Ser1714Ter) http://identifiers.org/clinvar/159360 ^@ NM_022455.4(NSD1):c.5146+1G>A http://identifiers.org/clinvar/159361 ^@ NM_022455.4(NSD1):c.5198G>A (p.Cys1733Tyr) http://identifiers.org/clinvar/159362 ^@ NM_022455.4(NSD1):c.5303+1G>C http://identifiers.org/clinvar/159363 ^@ NM_022455.4(NSD1):c.5309G>A (p.Trp1770Ter) http://identifiers.org/clinvar/159364 ^@ NM_022455.4(NSD1):c.5375G>A (p.Gly1792Glu) http://identifiers.org/clinvar/159365 ^@ NM_022455.4(NSD1):c.5390T>C (p.Leu1797Pro) http://identifiers.org/clinvar/159366 ^@ NM_022455.4(NSD1):c.5392_5398delTTTTTTG (p.Phe1798Aspfs) http://identifiers.org/clinvar/159367 ^@ NM_022455.4(NSD1):c.5419A>C (p.Thr1807Pro) http://identifiers.org/clinvar/159368 ^@ NM_022455.4(NSD1):c.5425C>T (p.Gln1809Ter) http://identifiers.org/clinvar/159369 ^@ NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter) http://identifiers.org/clinvar/159370 ^@ NM_022455.4(NSD1):c.5432G>A (p.Arg1811Gln) http://identifiers.org/clinvar/159371 ^@ NM_022455.4(NSD1):c.5471A>G (p.Asp1824Gly) http://identifiers.org/clinvar/159372 ^@ NM_022455.4(NSD1):c.5566C>T (p.Gln1856Ter) http://identifiers.org/clinvar/159373 ^@ NM_022455.4(NSD1):c.5618_5619delTA (p.Ile1873Lysfs) http://identifiers.org/clinvar/159374 ^@ NM_022455.4(NSD1):c.5712delC (p.Cys1905Valfs) http://identifiers.org/clinvar/159375 ^@ NM_022455.4(NSD1):c.5740C>T (p.Arg1914Cys) http://identifiers.org/clinvar/159376 ^@ NM_022455.4(NSD1):c.5741G>C (p.Arg1914Pro) http://identifiers.org/clinvar/159377 ^@ NM_022455.4(NSD1):c.5798A>G (p.Asn1933Ser) http://identifiers.org/clinvar/159378 ^@ NM_022455.4(NSD1):c.5800C>T (p.Gln1934Ter) http://identifiers.org/clinvar/159379 ^@ NM_022455.4(NSD1):c.5805C>A (p.Cys1935Ter) http://identifiers.org/clinvar/159380 ^@ NM_022455.4(NSD1):c.5809T>C (p.Ser1937Pro) http://identifiers.org/clinvar/159381 ^@ NM_022455.4(NSD1):c.5862G>C (p.Trp1954Cys) http://identifiers.org/clinvar/159382 ^@ NM_022455.4(NSD1):c.5869C>T (p.Arg1957Trp) http://identifiers.org/clinvar/159383 ^@ NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr) http://identifiers.org/clinvar/159384 ^@ NM_022455.4(NSD1):c.5893-2A>G http://identifiers.org/clinvar/159385 ^@ NM_022455.4(NSD1):c.5903delT (p.Val1968Glyfs) http://identifiers.org/clinvar/159386 ^@ NM_022455.4(NSD1):c.5911delT (p.Tyr1971Metfs) http://identifiers.org/clinvar/159387 ^@ NM_022455.4(NSD1):c.5918G>T (p.Gly1973Val) http://identifiers.org/clinvar/159388 ^@ NM_022455.4(NSD1):c.5927T>A (p.Ile1976Lys) http://identifiers.org/clinvar/159389 ^@ NM_022455.4(NSD1):c.5938G>T (p.Glu1980Ter) http://identifiers.org/clinvar/159390 ^@ NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln) http://identifiers.org/clinvar/159391 ^@ NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter) http://identifiers.org/clinvar/159392 ^@ NM_022455.4(NSD1):c.5989T>C (p.Tyr1997His) http://identifiers.org/clinvar/159393 ^@ NM_022455.4(NSD1):c.6001C>T (p.Leu2001=) http://identifiers.org/clinvar/159394 ^@ NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter) http://identifiers.org/clinvar/159395 ^@ NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln) http://identifiers.org/clinvar/159396 ^@ NM_022455.4(NSD1):c.6043T>C (p.Tyr2015His) http://identifiers.org/clinvar/159397 ^@ NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) http://identifiers.org/clinvar/159398 ^@ NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) http://identifiers.org/clinvar/159399 ^@ NM_022455.4(NSD1):c.6059A>G (p.Asn2020Ser) http://identifiers.org/clinvar/159400 ^@ NM_022455.4(NSD1):c.6070C>T (p.Gln2024Ter) http://identifiers.org/clinvar/159401 ^@ NM_022455.4(NSD1):c.6080G>C (p.Cys2027Ser) http://identifiers.org/clinvar/159402 ^@ NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile) http://identifiers.org/clinvar/159403 ^@ NM_022455.4(NSD1):c.6152-14G>A http://identifiers.org/clinvar/159404 ^@ NM_022455.4(NSD1):c.6157G>T (p.Glu2053Ter) http://identifiers.org/clinvar/159405 ^@ NM_022455.4(NSD1):c.6165delC (p.Phe2056Serfs) http://identifiers.org/clinvar/159406 ^@ NM_022455.4(NSD1):c.6258+1G>A http://identifiers.org/clinvar/159407 ^@ NM_022455.4(NSD1):c.6259-8A>T http://identifiers.org/clinvar/159408 ^@ NM_022455.4(NSD1):c.6291delG (p.Lys2098Asnfs) http://identifiers.org/clinvar/159409 ^@ NM_022455.4(NSD1):c.6307C>T (p.Gln2103Ter) http://identifiers.org/clinvar/159410 ^@ NM_022455.4(NSD1):c.6310C>T (p.Gln2104Ter) http://identifiers.org/clinvar/159411 ^@ NM_022455.4(NSD1):c.6311_6312delAG (p.Gln2104Argfs) http://identifiers.org/clinvar/159412 ^@ NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter) http://identifiers.org/clinvar/159413 ^@ NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly) http://identifiers.org/clinvar/159414 ^@ NM_022455.4(NSD1):c.6366delT (p.Phe2122Leufs) http://identifiers.org/clinvar/159415 ^@ NM_022455.4(NSD1):c.6377A>T (p.Asp2126Val) http://identifiers.org/clinvar/159416 ^@ NM_022455.4(NSD1):c.6393C>G (p.Val2131=) http://identifiers.org/clinvar/159417 ^@ NM_022455.4(NSD1):c.6413G>A (p.Cys2138Tyr) http://identifiers.org/clinvar/159418 ^@ NM_022455.4(NSD1):c.6418A>G (p.Lys2140Glu) http://identifiers.org/clinvar/159419 ^@ NM_022455.4(NSD1):c.6421delG (p.Val2141Phefs) http://identifiers.org/clinvar/159420 ^@ NM_022455.4(NSD1):c.6431delC (p.Ala2144Glufs) http://identifiers.org/clinvar/159421 ^@ NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter) http://identifiers.org/clinvar/159422 ^@ NM_022455.4(NSD1):c.6455G>A (p.Arg2152Gln) http://identifiers.org/clinvar/159423 ^@ NM_022455.4(NSD1):c.6472G>T (p.Glu2158Ter) http://identifiers.org/clinvar/159424 ^@ NM_022455.4(NSD1):c.6476G>A (p.Cys2159Tyr) http://identifiers.org/clinvar/159425 ^@ NM_022455.4(NSD1):c.6480G>A (p.Pro2160=) http://identifiers.org/clinvar/159426 ^@ NM_022455.4(NSD1):c.6485A>C (p.His2162Pro) http://identifiers.org/clinvar/159427 ^@ NM_022455.4(NSD1):c.6500G>A (p.Cys2167Tyr) http://identifiers.org/clinvar/159428 ^@ NM_022455.4(NSD1):c.6521_6523delTCT (p.Phe2174del) http://identifiers.org/clinvar/159429 ^@ NM_022455.4(NSD1):c.6539_6557del19 (p.Ser2180Ilefs) http://identifiers.org/clinvar/159430 ^@ NM_022455.4(NSD1):c.6557A>G (p.His2186Arg) http://identifiers.org/clinvar/159431 ^@ NM_022455.4(NSD1):c.6559C>T (p.Arg2187Ter) http://identifiers.org/clinvar/159432 ^@ NM_022455.4(NSD1):c.6604T>A (p.Cys2202Ser) http://identifiers.org/clinvar/159433 ^@ NM_022455.4(NSD1):c.6630_6644delCAATCCTCTGGAACC (p.Asn2211_Pro2215del) http://identifiers.org/clinvar/159434 ^@ NM_022455.4(NSD1):c.6637C>G (p.Leu2213Val) http://identifiers.org/clinvar/159435 ^@ NM_022455.4(NSD1):c.6640G>A (p.Glu2214Lys) http://identifiers.org/clinvar/159436 ^@ NM_022455.4(NSD1):c.6656G>A (p.Arg2219His) http://identifiers.org/clinvar/159437 ^@ NM_022455.4(NSD1):c.6753A>G (p.Ser2251=) http://identifiers.org/clinvar/159438 ^@ NM_022455.4(NSD1):c.7391G>A (p.Arg2464His) http://identifiers.org/clinvar/159439 ^@ NM_022455.4(NSD1):c.7403G>A (p.Arg2468Gln) http://identifiers.org/clinvar/159440 ^@ NM_022455.4(NSD1):c.7560A>G (p.Ala2520=) http://identifiers.org/clinvar/159443 ^@ NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) http://identifiers.org/clinvar/159444 ^@ NM_022455.4(NSD1):c.7923T>C (p.Ala2641=) http://identifiers.org/clinvar/159445 ^@ NM_022455.4(NSD1):c.7939_7940delCA (p.Gln2647Valfs) http://identifiers.org/clinvar/159446 ^@ NM_022455.4(NSD1):c.8036delC (p.Pro2679Glnfs) http://identifiers.org/clinvar/159447 ^@ NM_022455.4(NSD1):c.8043delT (p.Asn2682Thrfs) http://identifiers.org/clinvar/159103 ^@ NM_133433.3(NIPBL):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/159191 ^@ NM_133433.3(NIPBL):c.64+1G>A http://identifiers.org/clinvar/159192 ^@ NM_133433.3(NIPBL):c.64+3A>C http://identifiers.org/clinvar/159193 ^@ NM_133433.3(NIPBL):c.64+5G>A http://identifiers.org/clinvar/159196 ^@ NM_133433.3(NIPBL):c.65-5A>G http://identifiers.org/clinvar/159249 ^@ NM_015384.4(NIPBL):c.86delC (p.Pro29Hisfs) http://identifiers.org/clinvar/159250 ^@ NM_133433.3(NIPBL):c.87A>G (p.Pro29=) http://identifiers.org/clinvar/159035 ^@ NM_133433.3(NIPBL):c.145G>T (p.Glu49Ter) http://identifiers.org/clinvar/159042 ^@ NM_015384.4(NIPBL):c.201_212delTAGCCTCAACCA (p.His67_Asn70del) http://identifiers.org/clinvar/159045 ^@ NM_133433.3(NIPBL):c.206T>C (p.Leu69Pro) http://identifiers.org/clinvar/159069 ^@ NM_133433.3(NIPBL):c.294C>T (p.Ala98=) http://identifiers.org/clinvar/159073 ^@ NM_015384.4(NIPBL):c.310_317delCCTAATGT (p.Pro104Phefs) http://identifiers.org/clinvar/159079 ^@ NM_133433.3(NIPBL):c.332G>A (p.Ser111Asn) http://identifiers.org/clinvar/159083 ^@ NM_133433.3(NIPBL):c.345A>G (p.Arg115=) http://identifiers.org/clinvar/159089 ^@ NM_133433.3(NIPBL):c.358+1G>T http://identifiers.org/clinvar/159090 ^@ NM_133433.3(NIPBL):c.358+5G>C http://identifiers.org/clinvar/159120 ^@ NM_015384.4(NIPBL):c.456delC (p.Ser153Alafs) http://identifiers.org/clinvar/159146 ^@ NM_133433.3(NIPBL):c.534C>T (p.Tyr178=) http://identifiers.org/clinvar/159167 ^@ NM_133433.3(NIPBL):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/159172 ^@ NM_133433.3(NIPBL):c.610+1G>A http://identifiers.org/clinvar/159175 ^@ NM_133433.3(NIPBL):c.611-10T>C http://identifiers.org/clinvar/159178 ^@ NM_133433.3(NIPBL):c.615G>A (p.Ser205=) http://identifiers.org/clinvar/159209 ^@ NM_133433.3(NIPBL):c.678G>A (p.Pro226=) http://identifiers.org/clinvar/159229 ^@ NM_133433.3(NIPBL):c.737A>G (p.Asp246Gly) http://identifiers.org/clinvar/159235 ^@ NM_133433.3(NIPBL):c.771+1G>A http://identifiers.org/clinvar/159236 ^@ NM_133433.3(NIPBL):c.772-1G>A http://identifiers.org/clinvar/159237 ^@ NM_133433.3(NIPBL):c.781T>G (p.Ser261Ala) http://identifiers.org/clinvar/159248 ^@ NM_133433.3(NIPBL):c.869-1G>A http://identifiers.org/clinvar/159251 ^@ NM_133433.3(NIPBL):c.892C>T (p.Gln298Ter) http://identifiers.org/clinvar/159252 ^@ NM_015384.4(NIPBL):c.892delC (p.Gln298Asnfs) http://identifiers.org/clinvar/159253 ^@ NM_133433.3(NIPBL):c.894A>G (p.Gln298=) http://identifiers.org/clinvar/159254 ^@ NM_133433.3(NIPBL):c.922C>T (p.Arg308Ter) http://identifiers.org/clinvar/159024 ^@ NM_015384.4(NIPBL):c.1003delG (p.Glu335Lysfs) http://identifiers.org/clinvar/159025 ^@ NM_015384.4(NIPBL):c.1033_1036delTATG (p.Tyr345Ilefs) http://identifiers.org/clinvar/159026 ^@ NM_133433.3(NIPBL):c.1056C>T (p.Ser352=) http://identifiers.org/clinvar/159027 ^@ NM_133433.3(NIPBL):c.1057A>T (p.Lys353Ter) http://identifiers.org/clinvar/159028 ^@ NM_015384.4(NIPBL):c.1086_1087delTT (p.Arg364Cysfs) http://identifiers.org/clinvar/159029 ^@ NM_133433.3(NIPBL):c.1150A>G (p.Asn384Asp) http://identifiers.org/clinvar/159030 ^@ NM_133433.3(NIPBL):c.1151A>G (p.Asn384Ser) http://identifiers.org/clinvar/159031 ^@ NM_133433.3(NIPBL):c.1183C>T (p.Gln395Ter) http://identifiers.org/clinvar/159032 ^@ NM_133433.3(NIPBL):c.1297C>T (p.Gln433Ter) http://identifiers.org/clinvar/159033 ^@ NM_133433.3(NIPBL):c.1372C>T (p.Gln458Ter) http://identifiers.org/clinvar/159034 ^@ NM_015384.4(NIPBL):c.1447_1448delGA (p.Glu483Ilefs) http://identifiers.org/clinvar/159036 ^@ NM_133433.3(NIPBL):c.1477A>G (p.Lys493Glu) http://identifiers.org/clinvar/159037 ^@ NM_015384.4(NIPBL):c.1514_1517delGAAA (p.Arg505Asnfs) http://identifiers.org/clinvar/159038 ^@ NM_133433.3(NIPBL):c.1576C>T (p.Gln526Ter) http://identifiers.org/clinvar/159039 ^@ NM_133433.3(NIPBL):c.1591A>G (p.Thr531Ala) http://identifiers.org/clinvar/159040 ^@ NM_015384.4(NIPBL):c.1753delA (p.Ile585Leufs) http://identifiers.org/clinvar/159041 ^@ NM_133433.3(NIPBL):c.1885C>T (p.Arg629Ter) http://identifiers.org/clinvar/159043 ^@ NM_015384.4(NIPBL):c.2046delA (p.Lys682Asnfs) http://identifiers.org/clinvar/159044 ^@ NM_133433.3(NIPBL):c.2065A>T (p.Asn689Tyr) http://identifiers.org/clinvar/159046 ^@ NM_133433.3(NIPBL):c.2093C>G (p.Ser698Ter) http://identifiers.org/clinvar/159047 ^@ NM_015384.4(NIPBL):c.2107_2108delCC (p.Pro703Lysfs) http://identifiers.org/clinvar/159048 ^@ NM_015384.4(NIPBL):c.2108delC (p.Pro703Glnfs) http://identifiers.org/clinvar/159049 ^@ NM_133433.3(NIPBL):c.2256A>G (p.Glu752=) http://identifiers.org/clinvar/159050 ^@ NM_133433.3(NIPBL):c.2260C>T (p.Arg754Ter) http://identifiers.org/clinvar/159051 ^@ NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) http://identifiers.org/clinvar/159052 ^@ NM_133433.3(NIPBL):c.2325A>G (p.Lys775=) http://identifiers.org/clinvar/159053 ^@ NM_133433.3(NIPBL):c.2389C>T (p.Arg797Ter) http://identifiers.org/clinvar/159054 ^@ NM_133433.3(NIPBL):c.2422C>T (p.Arg808Ter) http://identifiers.org/clinvar/159055 ^@ NM_133433.3(NIPBL):c.2451C>T (p.Asp817=) http://identifiers.org/clinvar/159056 ^@ NM_133433.3(NIPBL):c.2471C>T (p.Ser824Leu) http://identifiers.org/clinvar/159057 ^@ NM_133433.3(NIPBL):c.2489C>G (p.Ser830Ter) http://identifiers.org/clinvar/159058 ^@ NM_133433.3(NIPBL):c.2494C>T (p.Arg832Ter) http://identifiers.org/clinvar/159059 ^@ NM_133433.3(NIPBL):c.2500C>T (p.Arg834Ter) http://identifiers.org/clinvar/159060 ^@ NM_133433.3(NIPBL):c.2505G>T (p.Gly835=) http://identifiers.org/clinvar/159061 ^@ NM_133433.3(NIPBL):c.2673C>T (p.Asp891=) http://identifiers.org/clinvar/159062 ^@ NM_015384.4(NIPBL):c.2711delG (p.Arg904Asnfs) http://identifiers.org/clinvar/159063 ^@ NM_133433.3(NIPBL):c.2772C>T (p.Asn924=) http://identifiers.org/clinvar/159064 ^@ NM_015384.4(NIPBL):c.2773_2774delAA (p.Lys925Glufs) http://identifiers.org/clinvar/159065 ^@ NM_133433.3(NIPBL):c.2832T>A (p.Tyr944Ter) http://identifiers.org/clinvar/159066 ^@ NM_133433.3(NIPBL):c.2903A>G (p.Asn968Ser) http://identifiers.org/clinvar/159067 ^@ NM_015384.4(NIPBL):c.2903delA (p.Asn968Metfs) http://identifiers.org/clinvar/159068 ^@ NM_133433.3(NIPBL):c.2931A>G (p.Glu977=) http://identifiers.org/clinvar/159070 ^@ NM_133433.3(NIPBL):c.3060_3063delAGAG (p.Glu1021Thrfs) http://identifiers.org/clinvar/159071 ^@ NM_133433.3(NIPBL):c.3103C>G (p.Pro1035Ala) http://identifiers.org/clinvar/159072 ^@ NM_133433.3(NIPBL):c.3109A>G (p.Lys1037Glu) http://identifiers.org/clinvar/159074 ^@ NM_133433.3(NIPBL):c.3121+11T>G http://identifiers.org/clinvar/159075 ^@ NM_133433.3(NIPBL):c.3122-2A>G http://identifiers.org/clinvar/159076 ^@ NM_133433.3(NIPBL):c.3304+5G>A http://identifiers.org/clinvar/159077 ^@ NM_133433.3(NIPBL):c.3305-1G>T http://identifiers.org/clinvar/159078 ^@ NM_133433.3(NIPBL):c.3322A>T (p.Lys1108Ter) http://identifiers.org/clinvar/159080 ^@ NM_133433.3(NIPBL):c.3369A>C (p.Arg1123Ser) http://identifiers.org/clinvar/159081 ^@ NM_133433.3(NIPBL):c.3423A>G (p.Ser1141=) http://identifiers.org/clinvar/159082 ^@ NM_133433.3(NIPBL):c.3440G>A (p.Arg1147Gln) http://identifiers.org/clinvar/159084 ^@ NM_015384.4(NIPBL):c.3461_3462delCT (p.Ser1154Terfs) http://identifiers.org/clinvar/159085 ^@ NM_133433.3(NIPBL):c.3503-9T>G http://identifiers.org/clinvar/159086 ^@ NM_015384.4(NIPBL):c.3526_3530delGAAAA (p.Glu1176Thrfs) http://identifiers.org/clinvar/159087 ^@ NM_133433.3(NIPBL):c.3541A>C (p.Arg1181=) http://identifiers.org/clinvar/159088 ^@ NM_133433.3(NIPBL):c.3575-3C>G http://identifiers.org/clinvar/159091 ^@ NM_133433.3(NIPBL):c.3616A>G (p.Ile1206Val) http://identifiers.org/clinvar/159092 ^@ NM_133433.3(NIPBL):c.3660G>A (p.Ala1220=) http://identifiers.org/clinvar/159093 ^@ NM_015384.4(NIPBL):c.3788_3789delTG (p.Val1263Glufs) http://identifiers.org/clinvar/159094 ^@ NM_015384.4(NIPBL):c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del) http://identifiers.org/clinvar/159095 ^@ NM_133433.3(NIPBL):c.3818T>G (p.Ile1273Ser) http://identifiers.org/clinvar/159096 ^@ NM_133433.3(NIPBL):c.3851A>G (p.Asn1284Ser) http://identifiers.org/clinvar/159097 ^@ NM_133433.3(NIPBL):c.3855+1G>T http://identifiers.org/clinvar/159098 ^@ NM_133433.3(NIPBL):c.3855+5G>A http://identifiers.org/clinvar/159099 ^@ NM_133433.3(NIPBL):c.3856-12A>C http://identifiers.org/clinvar/159100 ^@ NM_015384.4(NIPBL):c.3866_3869delCTGA (p.Thr1289Lysfs) http://identifiers.org/clinvar/159101 ^@ NM_133433.3(NIPBL):c.3868G>A (p.Glu1290Lys) http://identifiers.org/clinvar/159102 ^@ NM_133433.3(NIPBL):c.3874G>T (p.Glu1292Ter) http://identifiers.org/clinvar/159104 ^@ NM_133433.3(NIPBL):c.4017C>A (p.Tyr1339Ter) http://identifiers.org/clinvar/159105 ^@ NM_133433.3(NIPBL):c.4088-2A>T http://identifiers.org/clinvar/159106 ^@ NM_015384.4(NIPBL):c.4098_4101delAAGT (p.Leu1366Phefs) http://identifiers.org/clinvar/159107 ^@ NM_015384.4(NIPBL):c.4143_4144delAG (p.Arg1381Serfs) http://identifiers.org/clinvar/159108 ^@ NM_133433.3(NIPBL):c.4240-14T>G http://identifiers.org/clinvar/159110 ^@ NM_133433.3(NIPBL):c.4240-7T>C http://identifiers.org/clinvar/159109 ^@ NM_133433.3(NIPBL):c.4240-1G>C http://identifiers.org/clinvar/159111 ^@ NM_015384.4(NIPBL):c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs) http://identifiers.org/clinvar/159113 ^@ NM_133433.3(NIPBL):c.4320+1G>A http://identifiers.org/clinvar/159112 ^@ NM_133433.3(NIPBL):c.4320+14A>G http://identifiers.org/clinvar/159114 ^@ NM_133433.3(NIPBL):c.4321-15A>G http://identifiers.org/clinvar/159115 ^@ NM_133433.3(NIPBL):c.4421G>C (p.Arg1474Thr) http://identifiers.org/clinvar/159116 ^@ NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg) http://identifiers.org/clinvar/159117 ^@ NM_133433.3(NIPBL):c.4535A>T (p.Asn1512Ile) http://identifiers.org/clinvar/159118 ^@ NM_133433.3(NIPBL):c.4543G>T (p.Glu1515Ter) http://identifiers.org/clinvar/159119 ^@ NM_133433.3(NIPBL):c.4561-16C>T http://identifiers.org/clinvar/159121 ^@ NM_133433.3(NIPBL):c.4593T>G (p.Tyr1531Ter) http://identifiers.org/clinvar/159122 ^@ NM_015384.4(NIPBL):c.4636delC (p.Lys1548Asnfs) http://identifiers.org/clinvar/159123 ^@ NM_133433.3(NIPBL):c.4643+1G>C http://identifiers.org/clinvar/159124 ^@ NM_015384.4(NIPBL):c.4663delG (p.Glu1555Lysfs) http://identifiers.org/clinvar/159125 ^@ NM_133433.3(NIPBL):c.4674C>T (p.Tyr1558=) http://identifiers.org/clinvar/159126 ^@ NM_015384.4(NIPBL):c.4684_4687delTTTG (p.Phe1562Lysfs) http://identifiers.org/clinvar/159127 ^@ NM_133433.3(NIPBL):c.4712C>A (p.Ser1571Ter) http://identifiers.org/clinvar/159128 ^@ NM_133433.3(NIPBL):c.4731A>G (p.Glu1577=) http://identifiers.org/clinvar/159129 ^@ NM_133433.3(NIPBL):c.4773G>T (p.Leu1591=) http://identifiers.org/clinvar/159130 ^@ NM_133433.3(NIPBL):c.4777-12T>C http://identifiers.org/clinvar/159131 ^@ NM_015384.4(NIPBL):c.4818_4819delAG (p.Arg1606Serfs) http://identifiers.org/clinvar/159132 ^@ NM_133433.3(NIPBL):c.4959A>G (p.Lys1653=) http://identifiers.org/clinvar/159133 ^@ NM_133433.3(NIPBL):c.5010+9C>A http://identifiers.org/clinvar/159134 ^@ NM_015384.4(NIPBL):c.5033_5039delCCCAGTG (p.Ala1678Glyfs) http://identifiers.org/clinvar/159135 ^@ NM_015384.4(NIPBL):c.5174delA (p.Lys1725Serfs) http://identifiers.org/clinvar/159136 ^@ NM_133433.3(NIPBL):c.5211G>A (p.Gln1737=) http://identifiers.org/clinvar/159137 ^@ NM_133433.3(NIPBL):c.5225+13G>A http://identifiers.org/clinvar/159138 ^@ NM_133433.3(NIPBL):c.5226-14A>G http://identifiers.org/clinvar/159139 ^@ NM_133433.3(NIPBL):c.5272C>A (p.Arg1758=) http://identifiers.org/clinvar/159140 ^@ NM_133433.3(NIPBL):c.5327A>T (p.Gln1776Leu) http://identifiers.org/clinvar/159141 ^@ NM_133433.3(NIPBL):c.5328+1G>A http://identifiers.org/clinvar/159142 ^@ NM_133433.3(NIPBL):c.5329-15A>G http://identifiers.org/clinvar/159143 ^@ NM_133433.3(NIPBL):c.5329-1G>C http://identifiers.org/clinvar/159144 ^@ NM_133433.3(NIPBL):c.5330T>G (p.Ile1777Ser) http://identifiers.org/clinvar/159145 ^@ NM_133433.3(NIPBL):c.5335C>T (p.Arg1779Ter) http://identifiers.org/clinvar/159147 ^@ NM_133433.3(NIPBL):c.5365C>T (p.Arg1789Ter) http://identifiers.org/clinvar/159148 ^@ NM_015384.4(NIPBL):c.5389_5392delTCTG (p.Ser1797Argfs) http://identifiers.org/clinvar/159149 ^@ NM_133433.3(NIPBL):c.5428-2A>G http://identifiers.org/clinvar/159150 ^@ NM_133433.3(NIPBL):c.5455C>T (p.Arg1819Ter) http://identifiers.org/clinvar/159151 ^@ NM_133433.3(NIPBL):c.5464G>T (p.Asp1822Tyr) http://identifiers.org/clinvar/159152 ^@ NM_133433.3(NIPBL):c.5465A>G (p.Asp1822Gly) http://identifiers.org/clinvar/159153 ^@ NM_133433.3(NIPBL):c.5482C>T (p.Arg1828Ter) http://identifiers.org/clinvar/159154 ^@ NM_133433.3(NIPBL):c.5483G>A (p.Arg1828Gln) http://identifiers.org/clinvar/159155 ^@ NM_133433.3(NIPBL):c.5690A>G (p.Asn1897Ser) http://identifiers.org/clinvar/159156 ^@ NM_133433.3(NIPBL):c.5709+1G>A http://identifiers.org/clinvar/159157 ^@ NM_133433.3(NIPBL):c.5709+2T>G http://identifiers.org/clinvar/159158 ^@ NM_133433.3(NIPBL):c.5709+7T>G http://identifiers.org/clinvar/159159 ^@ NM_133433.3(NIPBL):c.5732A>C (p.Gln1911Pro) http://identifiers.org/clinvar/159160 ^@ NM_133433.3(NIPBL):c.5762A>G (p.Asn1921Ser) http://identifiers.org/clinvar/159161 ^@ NM_133433.3(NIPBL):c.5808+1G>A http://identifiers.org/clinvar/159162 ^@ NM_133433.3(NIPBL):c.5862+1G>A http://identifiers.org/clinvar/159163 ^@ NM_133433.3(NIPBL):c.5923G>T (p.Val1975Phe) http://identifiers.org/clinvar/159164 ^@ NM_015384.4(NIPBL):c.5924_5926delTTG (p.Val1975del) http://identifiers.org/clinvar/159165 ^@ NM_133433.3(NIPBL):c.5944A>C (p.Ile1982Leu) http://identifiers.org/clinvar/159166 ^@ NM_133433.3(NIPBL):c.5981A>G (p.Asn1994Ser) http://identifiers.org/clinvar/159168 ^@ NM_133433.3(NIPBL):c.6037A>C (p.Ser2013Arg) http://identifiers.org/clinvar/159169 ^@ NM_133433.3(NIPBL):c.6067C>A (p.His2023Asn) http://identifiers.org/clinvar/159170 ^@ NM_133433.3(NIPBL):c.6068A>G (p.His2023Arg) http://identifiers.org/clinvar/159171 ^@ NM_133433.3(NIPBL):c.6071C>A (p.Ala2024Glu) http://identifiers.org/clinvar/159173 ^@ NM_133433.3(NIPBL):c.6108+1G>T http://identifiers.org/clinvar/159174 ^@ NM_133433.3(NIPBL):c.6108+7A>G http://identifiers.org/clinvar/159176 ^@ NM_133433.3(NIPBL):c.6145A>G (p.Lys2049Glu) http://identifiers.org/clinvar/159177 ^@ NM_133433.3(NIPBL):c.6158T>C (p.Leu2053Pro) http://identifiers.org/clinvar/159179 ^@ NM_133433.3(NIPBL):c.6170T>C (p.Leu2057Pro) http://identifiers.org/clinvar/159180 ^@ NM_133433.3(NIPBL):c.6182C>T (p.Pro2061Leu) http://identifiers.org/clinvar/159181 ^@ NM_133433.3(NIPBL):c.6242G>T (p.Gly2081Val) http://identifiers.org/clinvar/159182 ^@ NM_133433.3(NIPBL):c.6250-6T>C http://identifiers.org/clinvar/159183 ^@ NM_133433.3(NIPBL):c.6250G>T (p.Val2084Leu) http://identifiers.org/clinvar/159184 ^@ NM_133433.3(NIPBL):c.6266T>G (p.Val2089Gly) http://identifiers.org/clinvar/159185 ^@ NM_133433.3(NIPBL):c.6316G>C (p.Val2106Leu) http://identifiers.org/clinvar/159186 ^@ NM_015384.4(NIPBL):c.6317_6320delTGTG (p.Val2106Glyfs) http://identifiers.org/clinvar/159187 ^@ NM_133433.3(NIPBL):c.6322G>A (p.Ala2108Thr) http://identifiers.org/clinvar/159189 ^@ NM_133433.3(NIPBL):c.6343G>A (p.Gly2115Ser) http://identifiers.org/clinvar/159188 ^@ NM_133433.3(NIPBL):c.6343+5G>A http://identifiers.org/clinvar/159190 ^@ NM_015384.4(NIPBL):c.6362_6364delAAA (p.Lys2121del) http://identifiers.org/clinvar/159194 ^@ NM_133433.3(NIPBL):c.6400C>T (p.Leu2134=) http://identifiers.org/clinvar/159195 ^@ NM_133433.3(NIPBL):c.6478G>T (p.Asp2160Tyr) http://identifiers.org/clinvar/159197 ^@ NM_133433.3(NIPBL):c.6565C>T (p.Gln2189Ter) http://identifiers.org/clinvar/159198 ^@ NM_133433.3(NIPBL):c.6568A>G (p.Thr2190Ala) http://identifiers.org/clinvar/159199 ^@ NM_133433.3(NIPBL):c.6571A>T (p.Lys2191Ter) http://identifiers.org/clinvar/159200 ^@ NM_133433.3(NIPBL):c.6589+9A>T http://identifiers.org/clinvar/159201 ^@ NM_133433.3(NIPBL):c.6590-2A>C http://identifiers.org/clinvar/159202 ^@ NM_133433.3(NIPBL):c.6590G>A (p.Gly2197Glu) http://identifiers.org/clinvar/159203 ^@ NM_133433.3(NIPBL):c.6613A>G (p.Ser2205Gly) http://identifiers.org/clinvar/159204 ^@ NM_015384.4(NIPBL):c.6632_6634delAAG (p.Glu2211del) http://identifiers.org/clinvar/159205 ^@ NM_133433.3(NIPBL):c.6646T>C (p.Tyr2216His) http://identifiers.org/clinvar/159206 ^@ NM_015384.4(NIPBL):c.6648_6649delTA (p.Tyr2216Terfs) http://identifiers.org/clinvar/159207 ^@ NM_015384.4(NIPBL):c.6653_6655delATA (p.Asn2218del) http://identifiers.org/clinvar/159208 ^@ NM_133433.3(NIPBL):c.6707A>T (p.Asn2236Ile) http://identifiers.org/clinvar/159210 ^@ NM_133433.3(NIPBL):c.6892C>T (p.Arg2298Cys) http://identifiers.org/clinvar/159211 ^@ NM_133433.3(NIPBL):c.6893G>A (p.Arg2298His) http://identifiers.org/clinvar/159212 ^@ NM_133433.3(NIPBL):c.6935G>T (p.Gly2312Val) http://identifiers.org/clinvar/159213 ^@ NM_133433.3(NIPBL):c.6952C>T (p.Gln2318Ter) http://identifiers.org/clinvar/159214 ^@ NM_133433.3(NIPBL):c.6954+1G>A http://identifiers.org/clinvar/159215 ^@ NM_133433.3(NIPBL):c.6993A>G (p.Glu2331=) http://identifiers.org/clinvar/159216 ^@ NM_015384.4(NIPBL):c.7011_7012delGG (p.Lys2337Asnfs) http://identifiers.org/clinvar/159217 ^@ NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro) http://identifiers.org/clinvar/159218 ^@ NM_133433.3(NIPBL):c.7024C>T (p.Leu2342Phe) http://identifiers.org/clinvar/159219 ^@ NM_133433.3(NIPBL):c.7062+2T>C http://identifiers.org/clinvar/159220 ^@ NM_133433.3(NIPBL):c.7102C>T (p.Gln2368Ter) http://identifiers.org/clinvar/159221 ^@ NM_015384.4(NIPBL):c.7106delA (p.Gln2369Argfs) http://identifiers.org/clinvar/159222 ^@ NM_133433.3(NIPBL):c.7141G>A (p.Gly2381Ser) http://identifiers.org/clinvar/159223 ^@ NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr) http://identifiers.org/clinvar/159224 ^@ NM_015384.4(NIPBL):c.7198delC (p.Arg2400Valfs) http://identifiers.org/clinvar/159225 ^@ NM_133433.3(NIPBL):c.7264-6T>G http://identifiers.org/clinvar/159226 ^@ NM_133433.3(NIPBL):c.7306G>A (p.Ala2436Thr) http://identifiers.org/clinvar/159227 ^@ NM_015384.4(NIPBL):c.7336_7338delCCG (p.Pro2446del) http://identifiers.org/clinvar/159228 ^@ NM_015384.4(NIPBL):c.7348_7350delATG (p.Met2450del) http://identifiers.org/clinvar/159230 ^@ NM_015384.4(NIPBL):c.7439_7440delGA (p.Arg2480Lysfs) http://identifiers.org/clinvar/159231 ^@ NM_015384.4(NIPBL):c.7542_7547delTTCAGA (p.Asp2514_Ser2515del) http://identifiers.org/clinvar/159232 ^@ NM_133433.3(NIPBL):c.7625G>A (p.Gly2542Asp) http://identifiers.org/clinvar/159233 ^@ NM_133433.3(NIPBL):c.7641C>T (p.Leu2547=) http://identifiers.org/clinvar/159234 ^@ NM_015384.4(NIPBL):c.7701_7725del25 (p.Ser2568Metfs) http://identifiers.org/clinvar/159238 ^@ NM_133433.3(NIPBL):c.7830G>C (p.Val2610=) http://identifiers.org/clinvar/159239 ^@ NM_133433.3(NIPBL):c.7849C>T (p.Gln2617Ter) http://identifiers.org/clinvar/159240 ^@ NM_133433.3(NIPBL):c.7860+9T>G http://identifiers.org/clinvar/159241 ^@ NM_133433.3(NIPBL):c.8165_8183del19 (p.Pro2722Argfs) http://identifiers.org/clinvar/159242 ^@ NM_133433.3(NIPBL):c.8173G>C (p.Ala2725Pro) http://identifiers.org/clinvar/159243 ^@ NM_133433.3(NIPBL):c.8225G>T (p.Gly2742Val) http://identifiers.org/clinvar/159244 ^@ NM_133433.3(NIPBL):c.8277_8283delGGTGCCT (p.Val2760Glyfs) http://identifiers.org/clinvar/159245 ^@ NM_133433.3(NIPBL):c.8300_8301delAA (p.Lys2767Argfs) http://identifiers.org/clinvar/159246 ^@ NM_133433.3(NIPBL):c.8336C>T (p.Thr2779Met) http://identifiers.org/clinvar/159247 ^@ NM_133433.3(NIPBL):c.8408C>G (p.Ser2803Cys) http://identifiers.org/clinvar/159023 ^@ NM_015384.4(NIPBL):c.*953delA http://identifiers.org/clinvar/159722 ^@ NM_181523.2(PIK3R1):c.219C>T (p.Tyr73=) http://identifiers.org/clinvar/159723 ^@ NM_181523.2(PIK3R1):c.334+14A>C http://identifiers.org/clinvar/159724 ^@ NM_181523.2(PIK3R1):c.621T>C (p.Ile207=) http://identifiers.org/clinvar/159719 ^@ NM_181523.2(PIK3R1):c.1106C>T (p.Thr369Ile) http://identifiers.org/clinvar/159720 ^@ NM_181523.2(PIK3R1):c.1176C>T (p.Phe392=) http://identifiers.org/clinvar/159721 ^@ NM_181523.2(PIK3R1):c.2109T>C (p.Leu703=) http://identifiers.org/clinvar/159461 ^@ NM_002538.3(OCLN):c.4T>C (p.Ser2Pro) http://identifiers.org/clinvar/159462 ^@ NM_002538.3(OCLN):c.70C>G (p.Pro24Ala) http://identifiers.org/clinvar/159459 ^@ NM_002538.3(OCLN):c.384C>T (p.Tyr128=) http://identifiers.org/clinvar/159460 ^@ NM_002538.3(OCLN):c.452C>T (p.Ala151Val) http://identifiers.org/clinvar/158885 ^@ NM_002397.4(MEF2C):c.1403C>T (p.Ser468Phe) http://identifiers.org/clinvar/158888 ^@ NM_002397.4(MEF2C):c.833delT (p.Leu278Terfs) http://identifiers.org/clinvar/158887 ^@ NM_002397.4(MEF2C):c.810+10A>T http://identifiers.org/clinvar/158886 ^@ NM_002397.4(MEF2C):c.565C>T (p.Arg189Ter) http://identifiers.org/clinvar/158643 ^@ NM_032119.3(ADGRV1):c.1086A>G (p.Leu362=) http://identifiers.org/clinvar/158647 ^@ NM_032119.3(ADGRV1):c.1797A>T (p.Arg599Ser) http://identifiers.org/clinvar/158649 ^@ NM_032119.3(ADGRV1):c.1855T>G (p.Leu619Val) http://identifiers.org/clinvar/158650 ^@ NM_032119.3(ADGRV1):c.2456G>A (p.Ser819Asn) http://identifiers.org/clinvar/158651 ^@ NM_032119.3(ADGRV1):c.3289G>A (p.Gly1097Ser) http://identifiers.org/clinvar/158652 ^@ NM_032119.3(ADGRV1):c.5665-23T>C http://identifiers.org/clinvar/158653 ^@ NM_032119.3(ADGRV1):c.5747C>T (p.Thr1916Ile) http://identifiers.org/clinvar/158654 ^@ NM_032119.3(ADGRV1):c.7945+27C>A http://identifiers.org/clinvar/158655 ^@ NM_032119.3(ADGRV1):c.9650C>T (p.Ala3217Val) http://identifiers.org/clinvar/158656 ^@ NM_032119.3(ADGRV1):c.9907-35A>C http://identifiers.org/clinvar/158642 ^@ NM_032119.3(ADGRV1):c.10161+26G>T http://identifiers.org/clinvar/158644 ^@ NM_032119.3(ADGRV1):c.11338C>T (p.Arg3780Cys) http://identifiers.org/clinvar/158645 ^@ NM_032119.3(ADGRV1):c.11481T>C (p.Asp3827=) http://identifiers.org/clinvar/158646 ^@ NM_032119.3(ADGRV1):c.12032G>T (p.Gly4011Val) http://identifiers.org/clinvar/158648 ^@ NM_032119.3(ADGRV1):c.18311-22A>G http://identifiers.org/clinvar/160178 ^@ NM_178012.4(TUBB2B):c.1248C>T (p.Asn416=) http://identifiers.org/clinvar/160177 ^@ NM_178012.4(TUBB2B):c.1139G>T (p.Arg380Leu) http://identifiers.org/clinvar/160187 ^@ NM_178012.4(TUBB2B):c.965C>T (p.Ser322Phe) http://identifiers.org/clinvar/160186 ^@ NM_178012.4(TUBB2B):c.859C>T (p.Pro287Ser) http://identifiers.org/clinvar/160185 ^@ NM_178012.4(TUBB2B):c.718C>T (p.Leu240=) http://identifiers.org/clinvar/160183 ^@ NM_178012.4(TUBB2B):c.602G>C (p.Cys201Ser) http://identifiers.org/clinvar/160181 ^@ NM_178012.4(TUBB2B):c.498C>T (p.Thr166=) http://identifiers.org/clinvar/160180 ^@ NM_178012.4(TUBB2B):c.330C>T (p.Ala110=) http://identifiers.org/clinvar/160179 ^@ NM_178012.4(TUBB2B):c.126G>T (p.Leu42Phe) http://identifiers.org/clinvar/160176 ^@ NM_178012.4(TUBB2B):c.111T>C (p.His37=) http://identifiers.org/clinvar/158584 ^@ NM_004456.4(EZH2):c.2236A>G (p.Arg746Gly) http://identifiers.org/clinvar/158583 ^@ NM_004456.4(EZH2):c.2110+6T>C http://identifiers.org/clinvar/158582 ^@ NM_004456.4(EZH2):c.2050C>T (p.Arg684Cys) http://identifiers.org/clinvar/158581 ^@ NM_004456.4(EZH2):c.2028T>C (p.Asn676=) http://identifiers.org/clinvar/158580 ^@ NM_004456.4(EZH2):c.1884C>G (p.Gly628=) http://identifiers.org/clinvar/158579 ^@ NM_004456.4(EZH2):c.1876G>A (p.Val626Met) http://identifiers.org/clinvar/158578 ^@ NM_004456.4(EZH2):c.1852-6C>T http://identifiers.org/clinvar/158577 ^@ NM_004456.4(EZH2):c.1731G>A (p.Pro577=) http://identifiers.org/clinvar/158576 ^@ NM_004456.4(EZH2):c.1017T>C (p.Phe339=) http://identifiers.org/clinvar/159807 ^@ NM_006265.2(RAD21):c.1782C>T (p.Ala594=) http://identifiers.org/clinvar/159806 ^@ NM_006265.2(RAD21):c.1617A>G (p.Glu539=) http://identifiers.org/clinvar/159805 ^@ NM_006265.2(RAD21):c.1440T>C (p.Ala480=) http://identifiers.org/clinvar/159809 ^@ NM_006265.2(RAD21):c.938-11T>C http://identifiers.org/clinvar/159808 ^@ NM_006265.2(RAD21):c.688+8G>A http://identifiers.org/clinvar/158574 ^@ NM_001017420.2(ESCO2):c.383G>A (p.Gly128Glu) http://identifiers.org/clinvar/158575 ^@ NM_001017420.2(ESCO2):c.648A>G (p.Lys216=) http://identifiers.org/clinvar/158572 ^@ NM_001017420.2(ESCO2):c.1044A>T (p.Gly348=) http://identifiers.org/clinvar/158573 ^@ NM_001017420.2(ESCO2):c.1175G>A (p.Cys392Tyr) http://identifiers.org/clinvar/158281 ^@ NM_017780.3(CHD7):c.191_194delCAAA (p.Thr64Serfs) http://identifiers.org/clinvar/158291 ^@ NM_017780.3(CHD7):c.350G>A (p.Gly117Asp) http://identifiers.org/clinvar/158293 ^@ NM_017780.3(CHD7):c.361G>A (p.Gly121Ser) http://identifiers.org/clinvar/158328 ^@ NM_017780.3(CHD7):c.856A>G (p.Arg286Gly) http://identifiers.org/clinvar/158278 ^@ NM_017780.3(CHD7):c.1246G>T (p.Gly416Ter) http://identifiers.org/clinvar/158279 ^@ NM_017780.3(CHD7):c.1480C>T (p.Arg494Ter) http://identifiers.org/clinvar/158280 ^@ NM_017780.3(CHD7):c.1512A>G (p.Gln504=) http://identifiers.org/clinvar/158324 ^@ NM_017780.3(CHD7):c.1665+34G>A http://identifiers.org/clinvar/158282 ^@ NM_017780.3(CHD7):c.2230G>A (p.Gly744Ser) http://identifiers.org/clinvar/158325 ^@ NM_017780.3(CHD7):c.2238+39G>A http://identifiers.org/clinvar/158283 ^@ NM_017780.3(CHD7):c.2613+1G>A http://identifiers.org/clinvar/158326 ^@ NM_017780.3(CHD7):c.2614-45A>G http://identifiers.org/clinvar/158284 ^@ NM_017780.3(CHD7):c.2643T>G (p.Tyr881Ter) http://identifiers.org/clinvar/158285 ^@ NM_017780.3(CHD7):c.2815G>T (p.Glu939Ter) http://identifiers.org/clinvar/158286 ^@ NM_017780.3(CHD7):c.2830C>A (p.Arg944Ser) http://identifiers.org/clinvar/158287 ^@ NM_017780.3(CHD7):c.2905_2906delAG (p.Arg969Glyfs) http://identifiers.org/clinvar/158288 ^@ NM_017780.3(CHD7):c.3126C>T (p.Asn1042=) http://identifiers.org/clinvar/158289 ^@ NM_017780.3(CHD7):c.3201+3A>T http://identifiers.org/clinvar/158290 ^@ NM_017780.3(CHD7):c.3408A>G (p.Pro1136=) http://identifiers.org/clinvar/158292 ^@ NM_017780.3(CHD7):c.3522+13T>A http://identifiers.org/clinvar/158294 ^@ NM_017780.3(CHD7):c.4318C>T (p.Gln1440Ter) http://identifiers.org/clinvar/158295 ^@ NM_017780.3(CHD7):c.4353+3A>G http://identifiers.org/clinvar/158296 ^@ NM_017780.3(CHD7):c.4480C>T (p.Arg1494Ter) http://identifiers.org/clinvar/158327 ^@ NM_017780.3(CHD7):c.4533+46A>G http://identifiers.org/clinvar/158297 ^@ NM_017780.3(CHD7):c.4534-13T>G http://identifiers.org/clinvar/158298 ^@ NM_017780.3(CHD7):c.4634delT (p.Leu1545Terfs) http://identifiers.org/clinvar/158299 ^@ NM_017780.3(CHD7):c.4760C>T (p.Pro1587Leu) http://identifiers.org/clinvar/158300 ^@ NM_017780.3(CHD7):c.5051-4C>A http://identifiers.org/clinvar/158301 ^@ NM_017780.3(CHD7):c.5450T>G (p.Phe1817Cys) http://identifiers.org/clinvar/158302 ^@ NM_017780.3(CHD7):c.5458C>T (p.Arg1820Ter) http://identifiers.org/clinvar/158303 ^@ NM_017780.3(CHD7):c.5551G>T (p.Glu1851Ter) http://identifiers.org/clinvar/158304 ^@ NM_017780.3(CHD7):c.5666-2A>C http://identifiers.org/clinvar/158305 ^@ NM_017780.3(CHD7):c.5859G>A (p.Ala1953=) http://identifiers.org/clinvar/158306 ^@ NM_017780.3(CHD7):c.6135G>A (p.Pro2045=) http://identifiers.org/clinvar/158307 ^@ NM_017780.3(CHD7):c.6157C>T (p.Arg2053Ter) http://identifiers.org/clinvar/158308 ^@ NM_017780.3(CHD7):c.6250A>G (p.Ser2084Gly) http://identifiers.org/clinvar/158309 ^@ NM_017780.3(CHD7):c.6287A>G (p.His2096Arg) http://identifiers.org/clinvar/158310 ^@ NM_017780.3(CHD7):c.6356A>G (p.Asp2119Gly) http://identifiers.org/clinvar/158311 ^@ NM_017780.3(CHD7):c.6478G>A (p.Ala2160Thr) http://identifiers.org/clinvar/158312 ^@ NM_017780.3(CHD7):c.6843T>G (p.Asp2281Glu) http://identifiers.org/clinvar/158313 ^@ NM_017780.3(CHD7):c.6850C>T (p.Arg2284Ter) http://identifiers.org/clinvar/158314 ^@ NM_017780.3(CHD7):c.7252C>T (p.Arg2418Ter) http://identifiers.org/clinvar/158315 ^@ NM_017780.3(CHD7):c.7294G>T (p.Val2432Leu) http://identifiers.org/clinvar/158316 ^@ NM_017780.3(CHD7):c.7384_7387delTCTT (p.Ser2462Glnfs) http://identifiers.org/clinvar/158317 ^@ NM_017780.3(CHD7):c.7579A>C (p.Met2527Leu) http://identifiers.org/clinvar/158318 ^@ NM_017780.3(CHD7):c.7590A>G (p.Lys2530=) http://identifiers.org/clinvar/158319 ^@ NM_017780.3(CHD7):c.7848G>A (p.Leu2616=) http://identifiers.org/clinvar/158320 ^@ NM_017780.3(CHD7):c.7891C>T (p.Arg2631Ter) http://identifiers.org/clinvar/158321 ^@ NM_017780.3(CHD7):c.7957C>T (p.Arg2653Ter) http://identifiers.org/clinvar/158322 ^@ NM_017780.3(CHD7):c.8055G>A (p.Trp2685Ter) http://identifiers.org/clinvar/158323 ^@ NM_017780.3(CHD7):c.8661G>A (p.Pro2887=) http://identifiers.org/clinvar/158329 ^@ NM_017780.3(CHD7):c.8790C>T (p.Ala2930=) http://identifiers.org/clinvar/158854 ^@ NM_024596.4(MCPH1):c.23-26G>A http://identifiers.org/clinvar/158853 ^@ NM_024596.4(MCPH1):c.23-15A>G http://identifiers.org/clinvar/158819 ^@ NM_024596.4(MCPH1):c.128T>C (p.Phe43Ser) http://identifiers.org/clinvar/158851 ^@ NM_024596.4(MCPH1):c.228G>T (p.Val76=) http://identifiers.org/clinvar/158867 ^@ NM_024596.4(MCPH1):c.278C>A (p.Ala93Glu) http://identifiers.org/clinvar/158868 ^@ NM_024596.4(MCPH1):c.305G>C (p.Ser102Thr) http://identifiers.org/clinvar/158869 ^@ NM_024596.4(MCPH1):c.433C>G (p.Leu145Val) http://identifiers.org/clinvar/158870 ^@ NM_024596.4(MCPH1):c.477A>T (p.Ser159=) http://identifiers.org/clinvar/158871 ^@ NM_024596.4(MCPH1):c.614C>T (p.Pro205Leu) http://identifiers.org/clinvar/158872 ^@ NM_024596.4(MCPH1):c.634G>A (p.Ala212Thr) http://identifiers.org/clinvar/158873 ^@ NM_024596.4(MCPH1):c.647T>C (p.Ile216Thr) http://identifiers.org/clinvar/158874 ^@ NM_024596.4(MCPH1):c.670+31G>A http://identifiers.org/clinvar/158875 ^@ NM_024596.4(MCPH1):c.790A>G (p.Ile264Val) http://identifiers.org/clinvar/158876 ^@ NM_024596.4(MCPH1):c.863C>A (p.Pro288His) http://identifiers.org/clinvar/158877 ^@ NM_024596.4(MCPH1):c.867G>A (p.Gln289=) http://identifiers.org/clinvar/158878 ^@ NM_024596.4(MCPH1):c.898A>G (p.Ile300Val) http://identifiers.org/clinvar/158879 ^@ NM_024596.4(MCPH1):c.911G>T (p.Arg304Ile) http://identifiers.org/clinvar/158815 ^@ NM_024596.4(MCPH1):c.1061T>C (p.Val354Ala) http://identifiers.org/clinvar/158816 ^@ NM_024596.4(MCPH1):c.1113C>T (p.Cys371=) http://identifiers.org/clinvar/158817 ^@ NM_024596.4(MCPH1):c.1189G>A (p.Val397Met) http://identifiers.org/clinvar/158818 ^@ NM_024596.4(MCPH1):c.1273T>A (p.Tyr425Asn) http://identifiers.org/clinvar/158820 ^@ NM_024596.4(MCPH1):c.1351G>A (p.Glu451Lys) http://identifiers.org/clinvar/158821 ^@ NM_024596.4(MCPH1):c.1616A>G (p.Asp539Gly) http://identifiers.org/clinvar/158822 ^@ NM_024596.4(MCPH1):c.1679G>T (p.Ser560Ile) http://identifiers.org/clinvar/158823 ^@ NM_024596.4(MCPH1):c.1716C>T (p.Asn572=) http://identifiers.org/clinvar/158824 ^@ NM_024596.4(MCPH1):c.1719C>T (p.Ser573=) http://identifiers.org/clinvar/158825 ^@ NM_024596.4(MCPH1):c.1728C>T (p.Gly576=) http://identifiers.org/clinvar/158826 ^@ NM_024596.4(MCPH1):c.1742A>G (p.Glu581Gly) http://identifiers.org/clinvar/158827 ^@ NM_024596.4(MCPH1):c.1782G>A (p.Thr594=) http://identifiers.org/clinvar/158828 ^@ NM_024596.4(MCPH1):c.1806A>C (p.Leu602Phe) http://identifiers.org/clinvar/158829 ^@ NM_024596.4(MCPH1):c.1845A>C (p.Thr615=) http://identifiers.org/clinvar/158830 ^@ NM_024596.4(MCPH1):c.1869_1870delAT (p.Cys624Terfs) http://identifiers.org/clinvar/158832 ^@ NM_024596.4(MCPH1):c.1936-43T>G http://identifiers.org/clinvar/158831 ^@ NM_024596.4(MCPH1):c.1936-10A>G http://identifiers.org/clinvar/158833 ^@ NM_024596.4(MCPH1):c.1951G>A (p.Val651Ile) http://identifiers.org/clinvar/158834 ^@ NM_024596.4(MCPH1):c.2045C>A (p.Thr682Asn) http://identifiers.org/clinvar/158841 ^@ NM_024596.4(MCPH1):c.2214C>T (p.Pro738=) http://identifiers.org/clinvar/158835 ^@ NM_024596.4(MCPH1):c.2214+13841A>G http://identifiers.org/clinvar/158836 ^@ NM_024596.4(MCPH1):c.2214+13853A>G http://identifiers.org/clinvar/158837 ^@ NM_024596.4(MCPH1):c.2214+19983C>T http://identifiers.org/clinvar/158838 ^@ NM_024596.4(MCPH1):c.2214+21313C>T http://identifiers.org/clinvar/158839 ^@ NM_024596.4(MCPH1):c.2214+32439C>A http://identifiers.org/clinvar/158840 ^@ NM_024596.4(MCPH1):c.2214+32439C>G http://identifiers.org/clinvar/158843 ^@ NM_024596.4(MCPH1):c.2215-19A>G http://identifiers.org/clinvar/158842 ^@ NM_024596.4(MCPH1):c.2215-15C>G http://identifiers.org/clinvar/158844 ^@ NM_024596.4(MCPH1):c.2226C>T (p.Ser742=) http://identifiers.org/clinvar/158845 ^@ NM_024596.4(MCPH1):c.2256C>G (p.Arg752=) http://identifiers.org/clinvar/158846 ^@ NM_024596.4(MCPH1):c.2256C>T (p.Arg752=) http://identifiers.org/clinvar/158847 ^@ NM_024596.4(MCPH1):c.2257G>C (p.Gly753Arg) http://identifiers.org/clinvar/158848 ^@ NM_024596.4(MCPH1):c.2282C>A (p.Ala761Glu) http://identifiers.org/clinvar/158849 ^@ NM_024596.4(MCPH1):c.2282C>G (p.Ala761Gly) http://identifiers.org/clinvar/158850 ^@ NM_024596.4(MCPH1):c.2288T>C (p.Phe763Ser) http://identifiers.org/clinvar/158852 ^@ NM_024596.4(MCPH1):c.2295G>A (p.Ser765=) http://identifiers.org/clinvar/158855 ^@ NM_024596.4(MCPH1):c.2400C>T (p.Tyr800=) http://identifiers.org/clinvar/158856 ^@ NM_024596.4(MCPH1):c.2401A>G (p.Ser801Gly) http://identifiers.org/clinvar/158857 ^@ NM_024596.4(MCPH1):c.2418C>A (p.Ala806=) http://identifiers.org/clinvar/158858 ^@ NM_024596.4(MCPH1):c.2429A>G (p.Tyr810Cys) http://identifiers.org/clinvar/158860 ^@ NM_024596.4(MCPH1):c.2452+9C>A http://identifiers.org/clinvar/158859 ^@ NM_024596.4(MCPH1):c.2452+49C>G http://identifiers.org/clinvar/158862 ^@ NM_024596.4(MCPH1):c.2453-14C>T http://identifiers.org/clinvar/158861 ^@ NM_024596.4(MCPH1):c.2453-13G>A http://identifiers.org/clinvar/158863 ^@ NM_024596.4(MCPH1):c.2453-1G>C http://identifiers.org/clinvar/158864 ^@ NM_024596.4(MCPH1):c.2466G>A (p.Gln822=) http://identifiers.org/clinvar/158865 ^@ NM_024596.4(MCPH1):c.2487A>C (p.Glu829Asp) http://identifiers.org/clinvar/158866 ^@ NM_024596.4(MCPH1):c.2499G>T (p.Leu833Phe) http://identifiers.org/clinvar/158168 ^@ NM_018249.5(CDK5RAP2):c.5579-34G>C http://identifiers.org/clinvar/158166 ^@ NM_018249.5(CDK5RAP2):c.5578+48C>T http://identifiers.org/clinvar/158165 ^@ NM_018249.5(CDK5RAP2):c.5578+29C>G http://identifiers.org/clinvar/158167 ^@ NM_018249.5(CDK5RAP2):c.5578T>C (p.Leu1860=) http://identifiers.org/clinvar/158164 ^@ NM_018249.5(CDK5RAP2):c.5454T>G (p.Ile1818Met) http://identifiers.org/clinvar/158163 ^@ NM_018249.5(CDK5RAP2):c.5448G>A (p.Glu1816=) http://identifiers.org/clinvar/158162 ^@ NM_018249.5(CDK5RAP2):c.5418C>T (p.Pro1806=) http://identifiers.org/clinvar/158161 ^@ NM_018249.5(CDK5RAP2):c.5413C>T (p.Leu1805Phe) http://identifiers.org/clinvar/158160 ^@ NM_018249.5(CDK5RAP2):c.5359A>C (p.Lys1787Gln) http://identifiers.org/clinvar/158157 ^@ NM_018249.5(CDK5RAP2):c.5227C>T (p.Gln1743Ter) http://identifiers.org/clinvar/158156 ^@ NM_018249.5(CDK5RAP2):c.5152C>G (p.Leu1718Val) http://identifiers.org/clinvar/158155 ^@ NM_018249.5(CDK5RAP2):c.4822A>G (p.Ser1608Gly) http://identifiers.org/clinvar/158154 ^@ NM_018249.5(CDK5RAP2):c.4821G>C (p.Arg1607Ser) http://identifiers.org/clinvar/158153 ^@ NM_018249.5(CDK5RAP2):c.4445A>T (p.Glu1482Val) http://identifiers.org/clinvar/158152 ^@ NM_018249.5(CDK5RAP2):c.4441C>T (p.Arg1481Ter) http://identifiers.org/clinvar/158151 ^@ NM_018249.5(CDK5RAP2):c.4425G>T (p.Lys1475Asn) http://identifiers.org/clinvar/158150 ^@ NM_018249.5(CDK5RAP2):c.4393A>G (p.Met1465Val) http://identifiers.org/clinvar/158149 ^@ NM_018249.5(CDK5RAP2):c.4338T>A (p.Ser1446Arg) http://identifiers.org/clinvar/158148 ^@ NM_018249.5(CDK5RAP2):c.4325C>T (p.Ser1442Leu) http://identifiers.org/clinvar/158147 ^@ NM_018249.5(CDK5RAP2):c.4055A>G (p.Glu1352Gly) http://identifiers.org/clinvar/158146 ^@ NM_018249.5(CDK5RAP2):c.4005-1G>A http://identifiers.org/clinvar/158145 ^@ NM_018249.5(CDK5RAP2):c.3859G>T (p.Ala1287Ser) http://identifiers.org/clinvar/158144 ^@ NM_018249.5(CDK5RAP2):c.3686A>G (p.Asn1229Ser) http://identifiers.org/clinvar/158143 ^@ NM_018249.5(CDK5RAP2):c.3679A>T (p.Ile1227Phe) http://identifiers.org/clinvar/158142 ^@ NM_018249.5(CDK5RAP2):c.3666A>G (p.Gln1222=) http://identifiers.org/clinvar/158140 ^@ NM_018249.5(CDK5RAP2):c.3285G>C (p.Met1095Ile) http://identifiers.org/clinvar/158139 ^@ NM_018249.5(CDK5RAP2):c.3258T>C (p.Ser1086=) http://identifiers.org/clinvar/158137 ^@ NM_018249.5(CDK5RAP2):c.3034C>G (p.Pro1012Ala) http://identifiers.org/clinvar/158136 ^@ NM_018249.5(CDK5RAP2):c.3025+48G>T http://identifiers.org/clinvar/158135 ^@ NM_018249.5(CDK5RAP2):c.2644C>G (p.Leu882Val) http://identifiers.org/clinvar/158134 ^@ NM_018249.5(CDK5RAP2):c.2294C>G (p.Pro765Arg) http://identifiers.org/clinvar/158133 ^@ NM_018249.5(CDK5RAP2):c.2289C>T (p.His763=) http://identifiers.org/clinvar/158132 ^@ NM_018249.5(CDK5RAP2):c.1483-29T>G http://identifiers.org/clinvar/158131 ^@ NM_018249.5(CDK5RAP2):c.1433T>C (p.Val478Ala) http://identifiers.org/clinvar/158130 ^@ NM_018249.5(CDK5RAP2):c.1312-27T>G http://identifiers.org/clinvar/158129 ^@ NM_018249.5(CDK5RAP2):c.1183C>T (p.His395Tyr) http://identifiers.org/clinvar/158173 ^@ NM_018249.5(CDK5RAP2):c.923C>T (p.Thr308Ile) http://identifiers.org/clinvar/158172 ^@ NM_018249.5(CDK5RAP2):c.880-7A>G http://identifiers.org/clinvar/158171 ^@ NM_018249.5(CDK5RAP2):c.879+26G>T http://identifiers.org/clinvar/158170 ^@ NM_018249.5(CDK5RAP2):c.749C>T (p.Pro250Leu) http://identifiers.org/clinvar/158169 ^@ NM_018249.5(CDK5RAP2):c.574C>T (p.Arg192Trp) http://identifiers.org/clinvar/158159 ^@ NM_018249.5(CDK5RAP2):c.533T>C (p.Leu178Pro) http://identifiers.org/clinvar/158138 ^@ NM_018249.5(CDK5RAP2):c.307-4G>A http://identifiers.org/clinvar/158141 ^@ NM_018249.5(CDK5RAP2):c.34G>C (p.Val12Leu) http://identifiers.org/clinvar/160073 ^@ NM_003165.3(STXBP1):c.433T>C (p.Tyr145His) http://identifiers.org/clinvar/160074 ^@ NM_003165.3(STXBP1):c.714C>A (p.Asp238Glu) http://identifiers.org/clinvar/160070 ^@ NM_001032221.3(STXBP1):c.734A>G (p.His245Arg) http://identifiers.org/clinvar/160071 ^@ NM_001032221.3(STXBP1):c.754_755delAT (p.Met252Glufs) http://identifiers.org/clinvar/160072 ^@ NM_003165.3(STXBP1):c.1548-7T>C http://identifiers.org/clinvar/160023 ^@ NM_001130438.2(SPTAN1):c.651+37A>C http://identifiers.org/clinvar/160031 ^@ NM_001130438.2(SPTAN1):c.979C>T (p.Leu327=) http://identifiers.org/clinvar/159993 ^@ NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) http://identifiers.org/clinvar/159994 ^@ NM_001130438.2(SPTAN1):c.1389C>T (p.Tyr463=) http://identifiers.org/clinvar/159995 ^@ NM_001130438.2(SPTAN1):c.1462-27T>A http://identifiers.org/clinvar/159996 ^@ NM_001130438.2(SPTAN1):c.1603C>A (p.Gln535Lys) http://identifiers.org/clinvar/159997 ^@ NM_001130438.2(SPTAN1):c.1677C>G (p.His559Gln) http://identifiers.org/clinvar/159998 ^@ NM_001130438.2(SPTAN1):c.1697G>A (p.Arg566Gln) http://identifiers.org/clinvar/159999 ^@ NM_001130438.2(SPTAN1):c.2064G>A (p.Glu688=) http://identifiers.org/clinvar/160000 ^@ NM_001130438.2(SPTAN1):c.2438-13T>G http://identifiers.org/clinvar/160001 ^@ NM_001130438.2(SPTAN1):c.2560+43G>A http://identifiers.org/clinvar/160002 ^@ NM_001130438.2(SPTAN1):c.2560+47C>T http://identifiers.org/clinvar/160003 ^@ NM_001130438.2(SPTAN1):c.2674G>T (p.Ala892Ser) http://identifiers.org/clinvar/160004 ^@ NM_001130438.2(SPTAN1):c.2872-42G>A http://identifiers.org/clinvar/160005 ^@ NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=) http://identifiers.org/clinvar/160006 ^@ NM_001130438.2(SPTAN1):c.3193C>T (p.Arg1065Cys) http://identifiers.org/clinvar/160007 ^@ NM_001130438.2(SPTAN1):c.3415-9G>T http://identifiers.org/clinvar/160008 ^@ NM_001130438.2(SPTAN1):c.3486C>G (p.Leu1162=) http://identifiers.org/clinvar/160009 ^@ NM_001130438.2(SPTAN1):c.3486C>T (p.Leu1162=) http://identifiers.org/clinvar/160010 ^@ NM_001130438.2(SPTAN1):c.3546T>C (p.Asp1182=) http://identifiers.org/clinvar/160011 ^@ NM_001130438.2(SPTAN1):c.3899T>C (p.Ile1300Thr) http://identifiers.org/clinvar/160012 ^@ NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) http://identifiers.org/clinvar/160013 ^@ NM_001130438.2(SPTAN1):c.4905+41C>G http://identifiers.org/clinvar/160014 ^@ NM_001130438.2(SPTAN1):c.5023T>A (p.Phe1675Ile) http://identifiers.org/clinvar/160015 ^@ NM_001130438.2(SPTAN1):c.5149-10C>T http://identifiers.org/clinvar/160016 ^@ NM_001130438.2(SPTAN1):c.5406C>G (p.Thr1802=) http://identifiers.org/clinvar/160017 ^@ NM_001130438.2(SPTAN1):c.5437C>A (p.Arg1813=) http://identifiers.org/clinvar/160018 ^@ NM_001130438.2(SPTAN1):c.5479-41A>C http://identifiers.org/clinvar/160019 ^@ NM_001130438.2(SPTAN1):c.5981A>G (p.Glu1994Gly) http://identifiers.org/clinvar/160020 ^@ NM_001130438.2(SPTAN1):c.6042T>G (p.Ser2014=) http://identifiers.org/clinvar/160021 ^@ NM_001130438.2(SPTAN1):c.6280-27C>T http://identifiers.org/clinvar/160022 ^@ NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) http://identifiers.org/clinvar/160024 ^@ NM_001130438.2(SPTAN1):c.6619_6621delGAG (p.Glu2207del) http://identifiers.org/clinvar/160025 ^@ NM_001130438.2(SPTAN1):c.6708-47G>A http://identifiers.org/clinvar/160026 ^@ NM_001130438.2(SPTAN1):c.6763-7C>T http://identifiers.org/clinvar/160028 ^@ NM_001130438.2(SPTAN1):c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) http://identifiers.org/clinvar/160029 ^@ NM_001130438.2(SPTAN1):c.6960-8T>C http://identifiers.org/clinvar/160030 ^@ NM_001130438.2(SPTAN1):c.7309-15T>C http://identifiers.org/clinvar/158891 ^@ NM_003829.4(MPDZ):c.3609A>G (p.Lys1203=) http://identifiers.org/clinvar/158890 ^@ NM_003829.4(MPDZ):c.2754G>A (p.Ser918=) http://identifiers.org/clinvar/158889 ^@ NM_003829.4(MPDZ):c.1074A>G (p.Thr358=) http://identifiers.org/clinvar/159819 ^@ NM_004560.3(ROR2):c.2805C>G (p.Asp935Glu) http://identifiers.org/clinvar/159818 ^@ NM_004560.3(ROR2):c.2455G>A (p.Val819Ile) http://identifiers.org/clinvar/159817 ^@ NM_004560.3(ROR2):c.2285C>T (p.Ser762Leu) http://identifiers.org/clinvar/159816 ^@ NM_004560.3(ROR2):c.2154C>T (p.Pro718=) http://identifiers.org/clinvar/159815 ^@ NM_004560.3(ROR2):c.2088C>T (p.Tyr696=) http://identifiers.org/clinvar/159814 ^@ NM_004560.3(ROR2):c.2083G>A (p.Gly695Arg) http://identifiers.org/clinvar/159813 ^@ NM_004560.3(ROR2):c.1970G>A (p.Arg657His) http://identifiers.org/clinvar/159812 ^@ NM_004560.3(ROR2):c.1959G>A (p.Leu653=) http://identifiers.org/clinvar/159811 ^@ NM_004560.3(ROR2):c.1710G>A (p.Pro570=) http://identifiers.org/clinvar/159810 ^@ NM_004560.3(ROR2):c.1045C>G (p.His349Asp) http://identifiers.org/clinvar/159824 ^@ NM_004560.3(ROR2):c.986G>A (p.Ser329Asn) http://identifiers.org/clinvar/159821 ^@ NM_004560.3(ROR2):c.733A>G (p.Thr245Ala) http://identifiers.org/clinvar/159820 ^@ NM_004560.3(ROR2):c.498T>C (p.Asp166=) http://identifiers.org/clinvar/159823 ^@ NM_004560.3(ROR2):c.98-15G>C http://identifiers.org/clinvar/159822 ^@ NM_004560.3(ROR2):c.75G>A (p.Leu25=) http://identifiers.org/clinvar/159980 ^@ NM_005445.3(SMC3):c.255A>G (p.Ser85=) http://identifiers.org/clinvar/159986 ^@ NM_005445.3(SMC3):c.351-9T>C http://identifiers.org/clinvar/159987 ^@ NM_005445.3(SMC3):c.377A>G (p.Glu126Gly) http://identifiers.org/clinvar/159988 ^@ NM_005445.3(SMC3):c.507C>T (p.Asp169=) http://identifiers.org/clinvar/159989 ^@ NM_005445.3(SMC3):c.548-5_548-4dup http://identifiers.org/clinvar/159990 ^@ NM_005445.3(SMC3):c.707G>C (p.Arg236Pro) http://identifiers.org/clinvar/159991 ^@ NM_005445.3(SMC3):c.724-6dup http://identifiers.org/clinvar/159992 ^@ NM_005445.3(SMC3):c.970-8G>A http://identifiers.org/clinvar/159965 ^@ NM_005445.3(SMC3):c.1092-8T>G http://identifiers.org/clinvar/159966 ^@ NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) http://identifiers.org/clinvar/159967 ^@ NM_005445.3(SMC3):c.1365T>C (p.Tyr455=) http://identifiers.org/clinvar/159968 ^@ NM_005445.3(SMC3):c.1581T>C (p.His527=) http://identifiers.org/clinvar/159969 ^@ NM_005445.3(SMC3):c.1680T>C (p.Tyr560=) http://identifiers.org/clinvar/159970 ^@ NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp) http://identifiers.org/clinvar/159971 ^@ NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) http://identifiers.org/clinvar/159972 ^@ NM_005445.3(SMC3):c.2264C>T (p.Pro755Leu) http://identifiers.org/clinvar/159973 ^@ NM_005445.3(SMC3):c.2268+4C>T http://identifiers.org/clinvar/159974 ^@ NM_005445.3(SMC3):c.2299T>C (p.Leu767=) http://identifiers.org/clinvar/159975 ^@ NM_005445.3(SMC3):c.2329T>C (p.Leu777=) http://identifiers.org/clinvar/159976 ^@ NM_005445.3(SMC3):c.2338G>C (p.Glu780Gln) http://identifiers.org/clinvar/159977 ^@ NM_005445.3(SMC3):c.2427+13C>T http://identifiers.org/clinvar/159978 ^@ NM_005445.3(SMC3):c.2493T>C (p.Tyr831=) http://identifiers.org/clinvar/159979 ^@ NM_005445.3(SMC3):c.2535+15T>G http://identifiers.org/clinvar/159981 ^@ NM_005445.3(SMC3):c.2644+6T>A http://identifiers.org/clinvar/159982 ^@ NM_005445.3(SMC3):c.2710T>C (p.Trp904Arg) http://identifiers.org/clinvar/159983 ^@ NM_005445.3(SMC3):c.2934G>A (p.Lys978=) http://identifiers.org/clinvar/159984 ^@ NM_005445.3(SMC3):c.2964T>C (p.Asp988=) http://identifiers.org/clinvar/159985 ^@ NM_005445.3(SMC3):c.3039A>G (p.Ser1013=) http://identifiers.org/clinvar/158698 ^@ NM_015634.3(KIF1BP):c.68A>G (p.Glu23Gly) http://identifiers.org/clinvar/158699 ^@ NM_015634.3(KIF1BP):c.78A>G (p.Lys26=) http://identifiers.org/clinvar/158696 ^@ NM_015634.3(KIF1BP):c.196G>A (p.Gly66Ser) http://identifiers.org/clinvar/158697 ^@ NM_015634.3(KIF1BP):c.518T>C (p.Met173Thr) http://identifiers.org/clinvar/158700 ^@ NM_015634.3(KIF1BP):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/158692 ^@ NM_015634.3(KIF1BP):c.1023G>A (p.Gln341=) http://identifiers.org/clinvar/158693 ^@ NM_015634.3(KIF1BP):c.1399C>T (p.Leu467=) http://identifiers.org/clinvar/158694 ^@ NM_015634.3(KIF1BP):c.1653C>T (p.Ala551=) http://identifiers.org/clinvar/158695 ^@ NM_015634.3(KIF1BP):c.1761T>C (p.Pro587=) http://identifiers.org/clinvar/158711 ^@ NM_001197104.1(KMT2A):c.89C>G (p.Ala30Gly) http://identifiers.org/clinvar/158704 ^@ NM_001197104.1(KMT2A):c.458C>G (p.Ser153Ter) http://identifiers.org/clinvar/158701 ^@ NM_001197104.1(KMT2A):c.2673_2674delGA (p.Arg893Glufs) http://identifiers.org/clinvar/158702 ^@ NM_001197104.1(KMT2A):c.4284A>C (p.Ile1428=) http://identifiers.org/clinvar/158703 ^@ NM_001197104.1(KMT2A):c.4426T>A (p.Cys1476Ser) http://identifiers.org/clinvar/158705 ^@ NM_001197104.1(KMT2A):c.5679A>G (p.Leu1893=) http://identifiers.org/clinvar/158706 ^@ NM_001197104.1(KMT2A):c.6572G>A (p.Arg2191Gln) http://identifiers.org/clinvar/158707 ^@ NM_001197104.1(KMT2A):c.7254C>T (p.Asn2418=) http://identifiers.org/clinvar/158708 ^@ NM_001197104.1(KMT2A):c.7831G>T (p.Glu2611Ter) http://identifiers.org/clinvar/158709 ^@ NM_001197104.1(KMT2A):c.8095C>T (p.Arg2699Ter) http://identifiers.org/clinvar/158710 ^@ NM_001197104.1(KMT2A):c.8961T>A (p.Thr2987=) http://identifiers.org/clinvar/158672 ^@ NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) http://identifiers.org/clinvar/158671 ^@ NM_000525.3(KCNJ11):c.1089A>G (p.Ser363=) http://identifiers.org/clinvar/158670 ^@ NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) http://identifiers.org/clinvar/158688 ^@ NM_000525.3(KCNJ11):c.988T>C (p.Tyr330His) http://identifiers.org/clinvar/158686 ^@ NM_000525.3(KCNJ11):c.852C>A (p.Ile284=) http://identifiers.org/clinvar/158685 ^@ NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) http://identifiers.org/clinvar/158684 ^@ NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) http://identifiers.org/clinvar/158683 ^@ NM_000525.3(KCNJ11):c.685G>A (p.Glu229Lys) http://identifiers.org/clinvar/158682 ^@ NM_000525.3(KCNJ11):c.679G>A (p.Glu227Lys) http://identifiers.org/clinvar/158681 ^@ NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) http://identifiers.org/clinvar/158680 ^@ NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) http://identifiers.org/clinvar/158678 ^@ NM_000525.3(KCNJ11):c.536A>C (p.Glu179Ala) http://identifiers.org/clinvar/158677 ^@ NM_000525.3(KCNJ11):c.521C>G (p.Ala174Gly) http://identifiers.org/clinvar/158676 ^@ NM_000525.3(KCNJ11):c.498C>G (p.Cys166Trp) http://identifiers.org/clinvar/158675 ^@ NM_000525.3(KCNJ11):c.463G>A (p.Val155Met) http://identifiers.org/clinvar/158673 ^@ NM_000525.3(KCNJ11):c.161G>A (p.Arg54His) http://identifiers.org/clinvar/158679 ^@ NM_000525.3(KCNJ11):c.53C>G (p.Ala18Gly) http://identifiers.org/clinvar/158674 ^@ NM_000525.3(KCNJ11):c.28G>A (p.Glu10Lys) http://identifiers.org/clinvar/158687 ^@ NM_000525.3(KCNJ11):c.8C>G (p.Ser3Cys) http://identifiers.org/clinvar/158190 ^@ NM_000076.2(CDKN1C):c.708G>A (p.Glu236=) http://identifiers.org/clinvar/158189 ^@ NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) http://identifiers.org/clinvar/159910 ^@ NM_024698.5(SLC25A22):c.*34A>G http://identifiers.org/clinvar/159918 ^@ NM_024698.5(SLC25A22):c.897C>T (p.Phe299=) http://identifiers.org/clinvar/159917 ^@ NM_024698.5(SLC25A22):c.561C>T (p.Tyr187=) http://identifiers.org/clinvar/159916 ^@ NM_024698.5(SLC25A22):c.474C>T (p.Pro158=) http://identifiers.org/clinvar/159915 ^@ NM_024698.5(SLC25A22):c.412+10G>T http://identifiers.org/clinvar/159914 ^@ NM_024698.5(SLC25A22):c.293+27G>A http://identifiers.org/clinvar/159913 ^@ NM_024698.5(SLC25A22):c.234C>T (p.Pro78=) http://identifiers.org/clinvar/159912 ^@ NM_024698.5(SLC25A22):c.179A>G (p.Glu60Gly) http://identifiers.org/clinvar/159911 ^@ NM_024698.5(SLC25A22):c.169G>A (p.Val57Ile) http://identifiers.org/clinvar/160096 ^@ NM_001082538.2(TCTN1):c.220+12G>C http://identifiers.org/clinvar/160097 ^@ NM_001082538.2(TCTN1):c.341+46G>T http://identifiers.org/clinvar/160098 ^@ NM_001082538.2(TCTN1):c.473-10T>A http://identifiers.org/clinvar/160099 ^@ NM_001082538.2(TCTN1):c.894C>T (p.Leu298=) http://identifiers.org/clinvar/160100 ^@ NM_001082538.2(TCTN1):c.940G>A (p.Ala314Thr) http://identifiers.org/clinvar/160094 ^@ NM_001082538.2(TCTN1):c.1332-35G>C http://identifiers.org/clinvar/160095 ^@ NM_001082538.2(TCTN1):c.1396G>T (p.Gly466Cys) http://identifiers.org/clinvar/158745 ^@ NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) http://identifiers.org/clinvar/158744 ^@ NM_003482.3(KMT2D):c.16438_16441delAACT (p.Asn5480Valfs) http://identifiers.org/clinvar/158743 ^@ NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) http://identifiers.org/clinvar/158742 ^@ NM_003482.3(KMT2D):c.16412+13G>A http://identifiers.org/clinvar/158741 ^@ NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) http://identifiers.org/clinvar/158740 ^@ NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter) http://identifiers.org/clinvar/158739 ^@ NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter) http://identifiers.org/clinvar/158738 ^@ NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter) http://identifiers.org/clinvar/158737 ^@ NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) http://identifiers.org/clinvar/158736 ^@ NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) http://identifiers.org/clinvar/158735 ^@ NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter) http://identifiers.org/clinvar/158734 ^@ NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) http://identifiers.org/clinvar/158733 ^@ NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) http://identifiers.org/clinvar/158732 ^@ NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) http://identifiers.org/clinvar/158731 ^@ NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) http://identifiers.org/clinvar/158730 ^@ NM_003482.3(KMT2D):c.13518delC (p.Ser4507Alafs) http://identifiers.org/clinvar/158729 ^@ NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) http://identifiers.org/clinvar/158727 ^@ NM_003482.3(KMT2D):c.13001C>T (p.Ala4334Val) http://identifiers.org/clinvar/158726 ^@ NM_003482.3(KMT2D):c.12962C>A (p.Ser4321Ter) http://identifiers.org/clinvar/158725 ^@ NM_003482.3(KMT2D):c.12956_12957delGA (p.Arg4319Thrfs) http://identifiers.org/clinvar/158724 ^@ NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) http://identifiers.org/clinvar/158723 ^@ NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) http://identifiers.org/clinvar/158722 ^@ NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) http://identifiers.org/clinvar/158721 ^@ NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) http://identifiers.org/clinvar/158720 ^@ NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) http://identifiers.org/clinvar/158719 ^@ NM_003482.3(KMT2D):c.11756_11758delAGC (p.Gln3919del) http://identifiers.org/clinvar/158718 ^@ NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) http://identifiers.org/clinvar/158717 ^@ NM_003482.3(KMT2D):c.11386delC (p.Gln3796Argfs) http://identifiers.org/clinvar/158716 ^@ NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) http://identifiers.org/clinvar/158715 ^@ NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter) http://identifiers.org/clinvar/158714 ^@ NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) http://identifiers.org/clinvar/158713 ^@ NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) http://identifiers.org/clinvar/158712 ^@ NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) http://identifiers.org/clinvar/158793 ^@ NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) http://identifiers.org/clinvar/158791 ^@ NM_003482.3(KMT2D):c.9491G>A (p.Arg3164Gln) http://identifiers.org/clinvar/158790 ^@ NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) http://identifiers.org/clinvar/158789 ^@ NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) http://identifiers.org/clinvar/158788 ^@ NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) http://identifiers.org/clinvar/158787 ^@ NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) http://identifiers.org/clinvar/158786 ^@ NM_003482.3(KMT2D):c.7904G>A (p.Arg2635Gln) http://identifiers.org/clinvar/158785 ^@ NM_003482.3(KMT2D):c.7841C>T (p.Ser2614Leu) http://identifiers.org/clinvar/158784 ^@ NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) http://identifiers.org/clinvar/158783 ^@ NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) http://identifiers.org/clinvar/158782 ^@ NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) http://identifiers.org/clinvar/158781 ^@ NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp) http://identifiers.org/clinvar/158780 ^@ NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) http://identifiers.org/clinvar/158779 ^@ NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) http://identifiers.org/clinvar/158778 ^@ NM_003482.3(KMT2D):c.6670_6674delGGGGA (p.Gly2224Ilefs) http://identifiers.org/clinvar/158777 ^@ NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) http://identifiers.org/clinvar/158776 ^@ NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter) http://identifiers.org/clinvar/158775 ^@ NM_003482.3(KMT2D):c.6086delC (p.Pro2029Leufs) http://identifiers.org/clinvar/158774 ^@ NM_003482.3(KMT2D):c.6020A>C (p.Glu2007Ala) http://identifiers.org/clinvar/158773 ^@ NM_003482.3(KMT2D):c.5952C>A (p.Pro1984=) http://identifiers.org/clinvar/158772 ^@ NM_003482.3(KMT2D):c.5592C>A (p.Gly1864=) http://identifiers.org/clinvar/158771 ^@ NM_003482.3(KMT2D):c.4739delC (p.Pro1580Glnfs) http://identifiers.org/clinvar/158770 ^@ NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) http://identifiers.org/clinvar/158769 ^@ NM_003482.3(KMT2D):c.4418+5G>A http://identifiers.org/clinvar/158768 ^@ NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) http://identifiers.org/clinvar/158767 ^@ NM_003482.3(KMT2D):c.4221delC (p.Cys1408Valfs) http://identifiers.org/clinvar/158766 ^@ NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His) http://identifiers.org/clinvar/158765 ^@ NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) http://identifiers.org/clinvar/158764 ^@ NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His) http://identifiers.org/clinvar/158762 ^@ NM_003482.3(KMT2D):c.3813A>G (p.Leu1271=) http://identifiers.org/clinvar/158761 ^@ NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) http://identifiers.org/clinvar/158760 ^@ NM_003482.3(KMT2D):c.3695delC (p.Pro1232Argfs) http://identifiers.org/clinvar/158759 ^@ NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter) http://identifiers.org/clinvar/158758 ^@ NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter) http://identifiers.org/clinvar/158756 ^@ NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) http://identifiers.org/clinvar/158754 ^@ NM_003482.3(KMT2D):c.2506C>A (p.Gln836Lys) http://identifiers.org/clinvar/158753 ^@ NM_003482.3(KMT2D):c.2256_2282del27 (p.Arg755_Pro763del) http://identifiers.org/clinvar/158752 ^@ NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) http://identifiers.org/clinvar/158751 ^@ NM_003482.3(KMT2D):c.2215G>A (p.Glu739Lys) http://identifiers.org/clinvar/158750 ^@ NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) http://identifiers.org/clinvar/158749 ^@ NM_003482.3(KMT2D):c.2062C>T (p.Arg688Cys) http://identifiers.org/clinvar/158748 ^@ NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) http://identifiers.org/clinvar/158747 ^@ NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) http://identifiers.org/clinvar/158746 ^@ NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter) http://identifiers.org/clinvar/158728 ^@ NM_003482.3(KMT2D):c.1329_1332delACCT (p.Pro444Argfs) http://identifiers.org/clinvar/158792 ^@ NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) http://identifiers.org/clinvar/158763 ^@ NM_003482.3(KMT2D):c.400+1G>C http://identifiers.org/clinvar/158757 ^@ NM_003482.3(KMT2D):c.288G>C (p.Val96=) http://identifiers.org/clinvar/158755 ^@ NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter) http://identifiers.org/clinvar/160148 ^@ NM_006009.3(TUBA1A):c.1274T>A (p.Met425Lys) http://identifiers.org/clinvar/160147 ^@ NM_006009.3(TUBA1A):c.1205G>T (p.Arg402Leu) http://identifiers.org/clinvar/160146 ^@ NM_006009.3(TUBA1A):c.1204C>T (p.Arg402Cys) http://identifiers.org/clinvar/160145 ^@ NM_006009.3(TUBA1A):c.1204C>A (p.Arg402Ser) http://identifiers.org/clinvar/160144 ^@ NM_006009.3(TUBA1A):c.1203A>G (p.Lys401=) http://identifiers.org/clinvar/160143 ^@ NM_006009.3(TUBA1A):c.1148C>T (p.Ala383Val) http://identifiers.org/clinvar/160142 ^@ NM_006009.3(TUBA1A):c.1129A>G (p.Met377Val) http://identifiers.org/clinvar/160141 ^@ NM_006009.3(TUBA1A):c.1008G>A (p.Lys336=) http://identifiers.org/clinvar/160169 ^@ NM_006009.3(TUBA1A):c.995T>C (p.Ile332Thr) http://identifiers.org/clinvar/160168 ^@ NM_006009.3(TUBA1A):c.991G>A (p.Ala331Thr) http://identifiers.org/clinvar/160167 ^@ NM_006009.3(TUBA1A):c.986A>G (p.Asn329Ser) http://identifiers.org/clinvar/160165 ^@ NM_006009.3(TUBA1A):c.966C>T (p.Asp322=) http://identifiers.org/clinvar/160164 ^@ NM_006009.3(TUBA1A):c.808G>T (p.Ala270Ser) http://identifiers.org/clinvar/160163 ^@ NM_006009.3(TUBA1A):c.758C>G (p.Thr253Arg) http://identifiers.org/clinvar/160162 ^@ NM_006009.3(TUBA1A):c.698A>G (p.Gln233Arg) http://identifiers.org/clinvar/160160 ^@ NM_006009.3(TUBA1A):c.562_564dupATC (p.Ile188_Leu189insIle) http://identifiers.org/clinvar/160159 ^@ NM_006009.3(TUBA1A):c.521C>T (p.Ala174Val) http://identifiers.org/clinvar/160158 ^@ NM_006009.3(TUBA1A):c.481T>G (p.Tyr161Asp) http://identifiers.org/clinvar/160157 ^@ NM_006009.3(TUBA1A):c.453G>C (p.Ser151=) http://identifiers.org/clinvar/160155 ^@ NM_006009.3(TUBA1A):c.396C>T (p.Leu132=) http://identifiers.org/clinvar/160154 ^@ NM_006009.3(TUBA1A):c.288A>G (p.Lys96=) http://identifiers.org/clinvar/160153 ^@ NM_006009.3(TUBA1A):c.276T>C (p.Leu92=) http://identifiers.org/clinvar/160152 ^@ NM_006009.3(TUBA1A):c.226+10C>T http://identifiers.org/clinvar/160151 ^@ NM_006009.3(TUBA1A):c.189C>T (p.Pro63=) http://identifiers.org/clinvar/160150 ^@ NM_006009.3(TUBA1A):c.162T>A (p.Ser54Arg) http://identifiers.org/clinvar/160149 ^@ NM_006009.3(TUBA1A):c.152C>T (p.Thr51Ile) http://identifiers.org/clinvar/160166 ^@ NM_006009.3(TUBA1A):c.96C>T (p.Pro32=) http://identifiers.org/clinvar/160161 ^@ NM_006009.3(TUBA1A):c.5G>A (p.Arg2His) http://identifiers.org/clinvar/160156 ^@ NM_006009.3(TUBA1A):c.4-7C>T http://identifiers.org/clinvar/158609 ^@ NM_004004.5(GJB2):c.647_650delGATA (p.Arg216Ilefs) http://identifiers.org/clinvar/158608 ^@ NM_004004.5(GJB2):c.632_633delGT (p.Cys211Leufs) http://identifiers.org/clinvar/158607 ^@ NM_004004.5(GJB2):c.298C>T (p.His100Tyr) http://identifiers.org/clinvar/158606 ^@ NM_004004.5(GJB2):c.158G>A (p.Cys53Tyr) http://identifiers.org/clinvar/158605 ^@ NM_004004.5(GJB2):c.132G>A (p.Trp44Ter) http://identifiers.org/clinvar/158604 ^@ NM_004004.5(GJB2):c.107T>C (p.Leu36Pro) http://identifiers.org/clinvar/158214 ^@ NM_018451.4(CENPJ):c.3920C>T (p.Thr1307Ile) http://identifiers.org/clinvar/158213 ^@ NM_018451.4(CENPJ):c.3704-14_3704-12delAAC http://identifiers.org/clinvar/158212 ^@ NM_018451.4(CENPJ):c.3478-49C>T http://identifiers.org/clinvar/158211 ^@ NM_018451.4(CENPJ):c.3448C>T (p.Gln1150Ter) http://identifiers.org/clinvar/158210 ^@ NM_018451.4(CENPJ):c.3367-4A>G http://identifiers.org/clinvar/158209 ^@ NM_018451.4(CENPJ):c.3367-12T>C http://identifiers.org/clinvar/158208 ^@ NM_018451.4(CENPJ):c.3216+7A>G http://identifiers.org/clinvar/158207 ^@ NM_018451.4(CENPJ):c.3042A>G (p.Glu1014=) http://identifiers.org/clinvar/158205 ^@ NM_018451.4(CENPJ):c.2852A>G (p.Gln951Arg) http://identifiers.org/clinvar/158204 ^@ NM_018451.4(CENPJ):c.2806A>G (p.Ser936Gly) http://identifiers.org/clinvar/158202 ^@ NM_018451.4(CENPJ):c.2470A>T (p.Thr824Ser) http://identifiers.org/clinvar/158201 ^@ NM_018451.4(CENPJ):c.2210A>G (p.Asp737Gly) http://identifiers.org/clinvar/158199 ^@ NM_018451.4(CENPJ):c.2031C>T (p.Ala677=) http://identifiers.org/clinvar/158198 ^@ NM_018451.4(CENPJ):c.1960G>A (p.Ala654Thr) http://identifiers.org/clinvar/158197 ^@ NM_018451.4(CENPJ):c.1908C>G (p.Arg636=) http://identifiers.org/clinvar/158195 ^@ NM_018451.4(CENPJ):c.1623C>T (p.Pro541=) http://identifiers.org/clinvar/158194 ^@ NM_018451.4(CENPJ):c.1586C>G (p.Ser529Ter) http://identifiers.org/clinvar/158193 ^@ NM_018451.4(CENPJ):c.1513G>A (p.Glu505Lys) http://identifiers.org/clinvar/158192 ^@ NM_018451.4(CENPJ):c.1410G>A (p.Pro470=) http://identifiers.org/clinvar/158191 ^@ NM_018451.4(CENPJ):c.1233G>A (p.Pro411=) http://identifiers.org/clinvar/158221 ^@ NM_018451.4(CENPJ):c.810A>G (p.Gln270=) http://identifiers.org/clinvar/158220 ^@ NM_018451.4(CENPJ):c.699G>A (p.Pro233=) http://identifiers.org/clinvar/158218 ^@ NM_018451.4(CENPJ):c.650G>A (p.Cys217Tyr) http://identifiers.org/clinvar/158216 ^@ NM_018451.4(CENPJ):c.600G>T (p.Gln200His) http://identifiers.org/clinvar/158215 ^@ NM_018451.4(CENPJ):c.444+3A>G http://identifiers.org/clinvar/158206 ^@ NM_018451.4(CENPJ):c.287A>G (p.His96Arg) http://identifiers.org/clinvar/158203 ^@ NM_018451.4(CENPJ):c.253C>A (p.Pro85Thr) http://identifiers.org/clinvar/158200 ^@ NM_018451.4(CENPJ):c.216T>G (p.Asp72Glu) http://identifiers.org/clinvar/158196 ^@ NM_018451.4(CENPJ):c.175A>G (p.Thr59Ala) http://identifiers.org/clinvar/158219 ^@ NM_018451.4(CENPJ):c.68A>G (p.Asn23Ser) http://identifiers.org/clinvar/158217 ^@ NM_018451.4(CENPJ):c.61A>T (p.Met21Leu) http://identifiers.org/clinvar/158587 ^@ NM_005249.4(FOXG1):c.135_136dupCC (p.Gln46Profs) http://identifiers.org/clinvar/158588 ^@ NM_005249.4(FOXG1):c.159_161delCCA (p.His57del) http://identifiers.org/clinvar/158589 ^@ NM_005249.4(FOXG1):c.170_179delACCCGCCGCC (p.His57Argfs) http://identifiers.org/clinvar/158590 ^@ NM_005249.4(FOXG1):c.183_206del24 (p.Ala62_Pro69del) http://identifiers.org/clinvar/158591 ^@ NM_005249.4(FOXG1):c.209A>C (p.Gln70Pro) http://identifiers.org/clinvar/158592 ^@ NM_005249.4(FOXG1):c.209_235del27 (p.Gln70_Pro78del) http://identifiers.org/clinvar/158593 ^@ NM_005249.4(FOXG1):c.263_278del16 (p.Arg88Profs) http://identifiers.org/clinvar/158594 ^@ NM_005249.4(FOXG1):c.298delC (p.Gln100Serfs) http://identifiers.org/clinvar/158595 ^@ NM_005249.4(FOXG1):c.456G>T (p.Gly152=) http://identifiers.org/clinvar/158596 ^@ NM_005249.4(FOXG1):c.563C>G (p.Ala188Gly) http://identifiers.org/clinvar/158597 ^@ NM_005249.4(FOXG1):c.672C>G (p.Gly224=) http://identifiers.org/clinvar/158598 ^@ NM_005249.4(FOXG1):c.755G>T (p.Gly252Val) http://identifiers.org/clinvar/158599 ^@ NM_005249.4(FOXG1):c.757A>G (p.Asn253Asp) http://identifiers.org/clinvar/158600 ^@ NM_005249.4(FOXG1):c.762C>G (p.Tyr254Ter) http://identifiers.org/clinvar/158601 ^@ NM_005249.4(FOXG1):c.765G>T (p.Trp255Cys) http://identifiers.org/clinvar/158602 ^@ NM_005249.4(FOXG1):c.799G>A (p.Gly267Ser) http://identifiers.org/clinvar/158585 ^@ NM_005249.4(FOXG1):c.1086G>A (p.Leu362=) http://identifiers.org/clinvar/158586 ^@ NM_005249.4(FOXG1):c.1218C>G (p.Ser406=) http://identifiers.org/clinvar/158797 ^@ NM_024884.2(L2HGDH):c.1196+34C>T http://identifiers.org/clinvar/158802 ^@ NM_024884.2(L2HGDH):c.840A>G (p.Pro280=) http://identifiers.org/clinvar/158801 ^@ NM_024884.2(L2HGDH):c.703+12T>C http://identifiers.org/clinvar/158800 ^@ NM_024884.2(L2HGDH):c.627A>G (p.Ala209=) http://identifiers.org/clinvar/158798 ^@ NM_024884.2(L2HGDH):c.159C>T (p.Ile53=) http://identifiers.org/clinvar/158803 ^@ NM_024884.2(L2HGDH):c.99G>T (p.Arg33Ser) http://identifiers.org/clinvar/158799 ^@ NM_024884.2(L2HGDH):c.53T>G (p.Leu18Arg) http://identifiers.org/clinvar/158128 ^@ NM_001080414.3(CCDC88C):c.912C>T (p.Asp304=) http://identifiers.org/clinvar/158813 ^@ NM_019066.4(MAGEL2):c.3229T>C (p.Leu1077=) http://identifiers.org/clinvar/158812 ^@ NM_019066.4(MAGEL2):c.3151C>A (p.Leu1051Ile) http://identifiers.org/clinvar/158811 ^@ NM_019066.4(MAGEL2):c.2612C>T (p.Ala871Val) http://identifiers.org/clinvar/158810 ^@ NM_019066.4(MAGEL2):c.2611G>T (p.Ala871Ser) http://identifiers.org/clinvar/158814 ^@ NM_019066.4(MAGEL2):c.383T>C (p.Leu128Pro) http://identifiers.org/clinvar/160221 ^@ NM_130838.1(UBE3A):c.2549G>A (p.Gly850Asp) http://identifiers.org/clinvar/160220 ^@ NM_130838.1(UBE3A):c.2507_2510delAAGA (p.Lys836Argfs) http://identifiers.org/clinvar/160219 ^@ NM_130838.1(UBE3A):c.2485T>C (p.Tyr829His) http://identifiers.org/clinvar/160218 ^@ NM_130838.1(UBE3A):c.2220G>C (p.Arg740=) http://identifiers.org/clinvar/160217 ^@ NM_130838.1(UBE3A):c.2071G>A (p.Val691Ile) http://identifiers.org/clinvar/160216 ^@ NM_130838.1(UBE3A):c.2026A>G (p.Asn676Asp) http://identifiers.org/clinvar/160215 ^@ NM_130838.1(UBE3A):c.1821T>C (p.Asp607=) http://identifiers.org/clinvar/160214 ^@ NM_130838.1(UBE3A):c.1805A>G (p.Asn602Ser) http://identifiers.org/clinvar/160213 ^@ NM_130838.1(UBE3A):c.1774_1777delATTG (p.Ile592Alafs) http://identifiers.org/clinvar/160212 ^@ NM_130838.1(UBE3A):c.1763A>G (p.Gln588Arg) http://identifiers.org/clinvar/160211 ^@ NM_130838.1(UBE3A):c.1726_1730delTTTTG (p.Phe576Valfs) http://identifiers.org/clinvar/160210 ^@ NM_130838.1(UBE3A):c.1693+12A>G http://identifiers.org/clinvar/160209 ^@ NM_130838.1(UBE3A):c.1688A>G (p.Asp563Gly) http://identifiers.org/clinvar/160208 ^@ NM_130838.1(UBE3A):c.1682A>G (p.Asn561Ser) http://identifiers.org/clinvar/160207 ^@ NM_130838.1(UBE3A):c.1634G>A (p.Gly545Glu) http://identifiers.org/clinvar/160206 ^@ NM_130838.1(UBE3A):c.1599T>A (p.Tyr533Ter) http://identifiers.org/clinvar/160205 ^@ NM_130838.1(UBE3A):c.1567G>T (p.Glu523Ter) http://identifiers.org/clinvar/160204 ^@ NM_130838.1(UBE3A):c.1461_1468delCTACAGCT (p.Tyr488Serfs) http://identifiers.org/clinvar/160203 ^@ NM_130838.1(UBE3A):c.1347_1348delGA (p.Asn450Glnfs) http://identifiers.org/clinvar/160201 ^@ NM_130838.1(UBE3A):c.1132A>C (p.Ile378Leu) http://identifiers.org/clinvar/160200 ^@ NM_130838.1(UBE3A):c.1116A>T (p.Glu372Asp) http://identifiers.org/clinvar/160199 ^@ NM_130838.1(UBE3A):c.1110_1113delTGAA (p.Asn370Lysfs) http://identifiers.org/clinvar/160198 ^@ NM_130838.1(UBE3A):c.1090G>T (p.Glu364Ter) http://identifiers.org/clinvar/160228 ^@ NM_130838.1(UBE3A):c.964C>T (p.Gln322Ter) http://identifiers.org/clinvar/160227 ^@ NM_130838.1(UBE3A):c.829G>T (p.Glu277Ter) http://identifiers.org/clinvar/160226 ^@ NM_130838.1(UBE3A):c.505_511delGAAAAGG (p.Glu169Lysfs) http://identifiers.org/clinvar/160225 ^@ NM_130838.1(UBE3A):c.388_399delATTGGAAGAGTT (p.Ile130_Val133del) http://identifiers.org/clinvar/160224 ^@ NM_130838.1(UBE3A):c.380delT (p.Ile127Thrfs) http://identifiers.org/clinvar/160223 ^@ NM_130838.1(UBE3A):c.317_321delCAGAA (p.Thr106Argfs) http://identifiers.org/clinvar/160222 ^@ NM_130838.1(UBE3A):c.268A>G (p.Met90Val) http://identifiers.org/clinvar/160202 ^@ NM_130838.1(UBE3A):c.116G>A (p.Arg39His) http://identifiers.org/clinvar/159896 ^@ NM_133647.1(SLC12A6):c.3003C>T (p.Leu1001=) http://identifiers.org/clinvar/159895 ^@ NM_133647.1(SLC12A6):c.2934+12G>C http://identifiers.org/clinvar/159894 ^@ NM_133647.1(SLC12A6):c.2925G>A (p.Val975=) http://identifiers.org/clinvar/159893 ^@ NM_133647.1(SLC12A6):c.2803-25T>C http://identifiers.org/clinvar/159891 ^@ NM_133647.1(SLC12A6):c.2042+32C>A http://identifiers.org/clinvar/159890 ^@ NM_133647.1(SLC12A6):c.1944-26C>T http://identifiers.org/clinvar/159889 ^@ NM_133647.1(SLC12A6):c.1825-13C>T http://identifiers.org/clinvar/159888 ^@ NM_133647.1(SLC12A6):c.1492+45C>T http://identifiers.org/clinvar/159887 ^@ NM_133647.1(SLC12A6):c.1284C>T (p.Asn428=) http://identifiers.org/clinvar/159886 ^@ NM_133647.1(SLC12A6):c.1005C>T (p.Ile335=) http://identifiers.org/clinvar/159899 ^@ NM_133647.1(SLC12A6):c.940A>T (p.Met314Leu) http://identifiers.org/clinvar/159898 ^@ NM_133647.1(SLC12A6):c.475C>T (p.Leu159=) http://identifiers.org/clinvar/159897 ^@ NM_133647.1(SLC12A6):c.379G>T (p.Glu127Ter) http://identifiers.org/clinvar/159892 ^@ NM_133647.1(SLC12A6):c.271+41G>C http://identifiers.org/clinvar/158222 ^@ NM_014985.3(CEP152):c.*5G>A http://identifiers.org/clinvar/158272 ^@ NM_014985.3(CEP152):c.4947A>G (p.Pro1649=) http://identifiers.org/clinvar/158271 ^@ NM_014985.3(CEP152):c.4939G>T (p.Asp1647Tyr) http://identifiers.org/clinvar/158270 ^@ NM_014985.3(CEP152):c.4910C>T (p.Pro1637Leu) http://identifiers.org/clinvar/158269 ^@ NM_014985.3(CEP152):c.4746A>G (p.Pro1582=) http://identifiers.org/clinvar/158268 ^@ NM_014985.3(CEP152):c.4732C>T (p.Arg1578Cys) http://identifiers.org/clinvar/158267 ^@ NM_014985.3(CEP152):c.4689T>C (p.Asp1563=) http://identifiers.org/clinvar/158266 ^@ NM_014985.3(CEP152):c.4576T>C (p.Ser1526Pro) http://identifiers.org/clinvar/158265 ^@ NM_014985.3(CEP152):c.4457T>A (p.Met1486Lys) http://identifiers.org/clinvar/158264 ^@ NM_014985.3(CEP152):c.4357A>G (p.Arg1453Gly) http://identifiers.org/clinvar/158263 ^@ NM_014985.3(CEP152):c.4131T>C (p.His1377=) http://identifiers.org/clinvar/158262 ^@ NM_014985.3(CEP152):c.3904C>G (p.Gln1302Glu) http://identifiers.org/clinvar/158261 ^@ NM_014985.3(CEP152):c.3822-13G>T http://identifiers.org/clinvar/158260 ^@ NM_014985.3(CEP152):c.3821+12C>T http://identifiers.org/clinvar/158259 ^@ NM_014985.3(CEP152):c.3712G>A (p.Glu1238Lys) http://identifiers.org/clinvar/158258 ^@ NM_014985.3(CEP152):c.3613G>A (p.Gly1205Arg) http://identifiers.org/clinvar/158256 ^@ NM_014985.3(CEP152):c.3429T>G (p.Ala1143=) http://identifiers.org/clinvar/158255 ^@ NM_014985.3(CEP152):c.3355G>A (p.Ala1119Thr) http://identifiers.org/clinvar/158254 ^@ NM_014985.3(CEP152):c.3317T>C (p.Val1106Ala) http://identifiers.org/clinvar/158253 ^@ NM_014985.3(CEP152):c.3313C>G (p.Leu1105Val) http://identifiers.org/clinvar/158252 ^@ NM_014985.3(CEP152):c.3278G>A (p.Cys1093Tyr) http://identifiers.org/clinvar/158251 ^@ NM_014985.3(CEP152):c.3085A>G (p.Met1029Val) http://identifiers.org/clinvar/158250 ^@ NM_001194998.1(CEP152):c.3016delA (p.Thr1006Leufs) http://identifiers.org/clinvar/158249 ^@ NM_014985.3(CEP152):c.3014A>T (p.Lys1005Ile) http://identifiers.org/clinvar/158248 ^@ NM_014985.3(CEP152):c.2985G>T (p.Ala995=) http://identifiers.org/clinvar/158247 ^@ NM_014985.3(CEP152):c.2827G>A (p.Glu943Lys) http://identifiers.org/clinvar/158246 ^@ NM_014985.3(CEP152):c.2777A>T (p.Glu926Val) http://identifiers.org/clinvar/158245 ^@ NM_014985.3(CEP152):c.2681C>T (p.Ser894Phe) http://identifiers.org/clinvar/158244 ^@ NM_001194998.1(CEP152):c.2679delC (p.Ser894Leufs) http://identifiers.org/clinvar/158243 ^@ NM_014985.3(CEP152):c.2362A>G (p.Thr788Ala) http://identifiers.org/clinvar/158242 ^@ NM_014985.3(CEP152):c.2262G>A (p.Glu754=) http://identifiers.org/clinvar/158241 ^@ NM_014985.3(CEP152):c.2068C>T (p.Arg690Cys) http://identifiers.org/clinvar/158240 ^@ NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) http://identifiers.org/clinvar/158239 ^@ NM_014985.3(CEP152):c.2019G>A (p.Arg673=) http://identifiers.org/clinvar/158237 ^@ NM_014985.3(CEP152):c.2018+10A>G http://identifiers.org/clinvar/158238 ^@ NM_014985.3(CEP152):c.2018+9T>C http://identifiers.org/clinvar/158235 ^@ NM_014985.3(CEP152):c.1909-8G>C http://identifiers.org/clinvar/158234 ^@ NM_014985.3(CEP152):c.1866G>T (p.Leu622=) http://identifiers.org/clinvar/158233 ^@ NM_014985.3(CEP152):c.1783-30T>C http://identifiers.org/clinvar/158232 ^@ NM_014985.3(CEP152):c.1769G>A (p.Ser590Asn) http://identifiers.org/clinvar/158231 ^@ NM_014985.3(CEP152):c.1768A>G (p.Ser590Gly) http://identifiers.org/clinvar/158230 ^@ NM_014985.3(CEP152):c.1578-6C>G http://identifiers.org/clinvar/158229 ^@ NM_014985.3(CEP152):c.1577+6G>A http://identifiers.org/clinvar/158228 ^@ NM_014985.3(CEP152):c.1565C>G (p.Ser522Cys) http://identifiers.org/clinvar/158227 ^@ NM_014985.3(CEP152):c.1516A>G (p.Thr506Ala) http://identifiers.org/clinvar/158225 ^@ NM_014985.3(CEP152):c.1329A>G (p.Val443=) http://identifiers.org/clinvar/158224 ^@ NM_014985.3(CEP152):c.1180A>G (p.Ile394Val) http://identifiers.org/clinvar/158223 ^@ NM_001194998.1(CEP152):c.1155delC (p.Thr386Profs) http://identifiers.org/clinvar/158277 ^@ NM_014985.3(CEP152):c.996T>C (p.Thr332=) http://identifiers.org/clinvar/158276 ^@ NM_014985.3(CEP152):c.981G>A (p.Lys327=) http://identifiers.org/clinvar/158274 ^@ NM_014985.3(CEP152):c.833-4G>A http://identifiers.org/clinvar/158273 ^@ NM_014985.3(CEP152):c.832+12G>A http://identifiers.org/clinvar/158257 ^@ NM_014985.3(CEP152):c.344G>A (p.Arg115Gln) http://identifiers.org/clinvar/158236 ^@ NM_014985.3(CEP152):c.191+11G>A http://identifiers.org/clinvar/158226 ^@ NM_014985.3(CEP152):c.133G>A (p.Asp45Asn) http://identifiers.org/clinvar/158275 ^@ NM_014985.3(CEP152):c.87+26A>G http://identifiers.org/clinvar/158664 ^@ NM_002168.3(IDH2):c.1304C>T (p.Thr435Met) http://identifiers.org/clinvar/158663 ^@ NM_002168.3(IDH2):c.1050C>T (p.Thr350=) http://identifiers.org/clinvar/158669 ^@ NM_002168.3(IDH2):c.996C>T (p.Ser332=) http://identifiers.org/clinvar/158668 ^@ NM_002168.3(IDH2):c.993G>A (p.Thr331=) http://identifiers.org/clinvar/158667 ^@ NM_002168.3(IDH2):c.939A>G (p.Gly313=) http://identifiers.org/clinvar/158666 ^@ NM_002168.3(IDH2):c.374-10G>A http://identifiers.org/clinvar/158665 ^@ NM_002168.3(IDH2):c.327G>A (p.Val109=) http://identifiers.org/clinvar/159019 ^@ NM_001143979.1(NDE1):c.84-5T>C http://identifiers.org/clinvar/159013 ^@ NM_001143979.1(NDE1):c.386+41C>G http://identifiers.org/clinvar/159014 ^@ NM_001143979.1(NDE1):c.623C>T (p.Ala208Val) http://identifiers.org/clinvar/159015 ^@ NM_001143979.1(NDE1):c.658C>T (p.Arg220Ter) http://identifiers.org/clinvar/159016 ^@ NM_001143979.1(NDE1):c.726G>A (p.Gly242=) http://identifiers.org/clinvar/159017 ^@ NM_001143979.1(NDE1):c.741T>G (p.Pro247=) http://identifiers.org/clinvar/159018 ^@ NM_001143979.1(NDE1):c.744G>A (p.Ala248=) http://identifiers.org/clinvar/159020 ^@ NM_001143979.1(NDE1):c.872C>T (p.Ser291Phe) http://identifiers.org/clinvar/159021 ^@ NM_001143979.1(NDE1):c.948-53G>A http://identifiers.org/clinvar/159022 ^@ NM_001143979.1(NDE1):c.956C>T (p.Thr319Met) http://identifiers.org/clinvar/160032 ^@ NM_006662.2(SRCAP):c.132C>T (p.Gly44=) http://identifiers.org/clinvar/160033 ^@ NM_006662.2(SRCAP):c.189C>G (p.Pro63=) http://identifiers.org/clinvar/160034 ^@ NM_006662.2(SRCAP):c.4293C>G (p.Val1431=) http://identifiers.org/clinvar/160035 ^@ NM_006662.2(SRCAP):c.4603C>G (p.Pro1535Ala) http://identifiers.org/clinvar/160036 ^@ NM_006662.2(SRCAP):c.5303T>C (p.Leu1768Pro) http://identifiers.org/clinvar/160037 ^@ NM_006662.2(SRCAP):c.7263C>A (p.Arg2421=) http://identifiers.org/clinvar/160038 ^@ NM_006662.2(SRCAP):c.7993C>T (p.Gln2665Ter) http://identifiers.org/clinvar/160039 ^@ NM_006662.2(SRCAP):c.8755C>T (p.Leu2919Phe) http://identifiers.org/clinvar/158401 ^@ NM_004380.2(CREBBP):c.7293G>A (p.Thr2431=) http://identifiers.org/clinvar/158400 ^@ NM_004380.2(CREBBP):c.7098G>C (p.Arg2366=) http://identifiers.org/clinvar/158399 ^@ NM_004380.2(CREBBP):c.7040C>T (p.Ala2347Val) http://identifiers.org/clinvar/158398 ^@ NM_004380.2(CREBBP):c.6624A>C (p.Gln2208His) http://identifiers.org/clinvar/158397 ^@ NM_004380.2(CREBBP):c.6449C>T (p.Pro2150Leu) http://identifiers.org/clinvar/158396 ^@ NM_004380.2(CREBBP):c.6130_6171del42 (p.Ala2044_Gln2057del) http://identifiers.org/clinvar/158395 ^@ NM_004380.2(CREBBP):c.6090G>A (p.Gln2030=) http://identifiers.org/clinvar/158394 ^@ NM_004380.2(CREBBP):c.6088C>T (p.Gln2030Ter) http://identifiers.org/clinvar/158392 ^@ NM_004380.2(CREBBP):c.5869delG (p.Glu1957Lysfs) http://identifiers.org/clinvar/158390 ^@ NM_004380.2(CREBBP):c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) http://identifiers.org/clinvar/158391 ^@ NM_004380.2(CREBBP):c.5837delC (p.Pro1946Hisfs) http://identifiers.org/clinvar/158389 ^@ NM_004380.2(CREBBP):c.5829G>A (p.Pro1943=) http://identifiers.org/clinvar/158388 ^@ NM_004380.2(CREBBP):c.5821C>T (p.Gln1941Ter) http://identifiers.org/clinvar/158387 ^@ NM_004380.2(CREBBP):c.5800T>C (p.Ser1934Pro) http://identifiers.org/clinvar/158386 ^@ NM_004380.2(CREBBP):c.5454G>A (p.Val1818=) http://identifiers.org/clinvar/158385 ^@ NM_004380.2(CREBBP):c.5050T>C (p.Ser1684Pro) http://identifiers.org/clinvar/158384 ^@ NM_004380.2(CREBBP):c.5039_5041delCCT (p.Ser1680del) http://identifiers.org/clinvar/158383 ^@ NM_004380.2(CREBBP):c.4894T>C (p.Phe1632Leu) http://identifiers.org/clinvar/158382 ^@ NM_004380.2(CREBBP):c.4792delA (p.Ser1598Alafs) http://identifiers.org/clinvar/158381 ^@ NM_004380.2(CREBBP):c.4729-14G>C http://identifiers.org/clinvar/158380 ^@ NM_004380.2(CREBBP):c.4689delG (p.Lys1565Argfs) http://identifiers.org/clinvar/158378 ^@ NM_004380.2(CREBBP):c.4560+14A>G http://identifiers.org/clinvar/158379 ^@ NM_004380.2(CREBBP):c.4560+7G>A http://identifiers.org/clinvar/158377 ^@ NM_004380.2(CREBBP):c.4508A>G (p.Tyr1503Cys) http://identifiers.org/clinvar/158376 ^@ NM_004380.2(CREBBP):c.4445A>G (p.Tyr1482Cys) http://identifiers.org/clinvar/158375 ^@ NM_004380.2(CREBBP):c.4444T>G (p.Tyr1482Asp) http://identifiers.org/clinvar/158374 ^@ NM_004380.2(CREBBP):c.4398T>A (p.Tyr1466Ter) http://identifiers.org/clinvar/158373 ^@ NM_004380.2(CREBBP):c.4376A>G (p.Glu1459Gly) http://identifiers.org/clinvar/158372 ^@ NM_004380.2(CREBBP):c.4281-11C>G http://identifiers.org/clinvar/158371 ^@ NM_004380.2(CREBBP):c.4280+8T>C http://identifiers.org/clinvar/158370 ^@ NM_004380.2(CREBBP):c.4226T>C (p.Phe1409Ser) http://identifiers.org/clinvar/158369 ^@ NM_004380.2(CREBBP):c.4133+1G>A http://identifiers.org/clinvar/158368 ^@ NM_004380.2(CREBBP):c.4078C>T (p.Arg1360Ter) http://identifiers.org/clinvar/158367 ^@ NM_004380.2(CREBBP):c.4045C>T (p.Gln1349Ter) http://identifiers.org/clinvar/158366 ^@ NM_004380.2(CREBBP):c.4022G>C (p.Arg1341Pro) http://identifiers.org/clinvar/158365 ^@ NM_004380.2(CREBBP):c.3989A>G (p.Gln1330Arg) http://identifiers.org/clinvar/158364 ^@ NM_004380.2(CREBBP):c.3983-2A>G http://identifiers.org/clinvar/158363 ^@ NM_004380.2(CREBBP):c.3914+3G>T http://identifiers.org/clinvar/158362 ^@ NM_004380.2(CREBBP):c.3900C>A (p.Ile1300=) http://identifiers.org/clinvar/158361 ^@ NM_004380.2(CREBBP):c.3836+1G>A http://identifiers.org/clinvar/158359 ^@ NM_004380.2(CREBBP):c.3779+1G>A http://identifiers.org/clinvar/158358 ^@ NM_004380.2(CREBBP):c.3613G>T (p.Glu1205Ter) http://identifiers.org/clinvar/158357 ^@ NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) http://identifiers.org/clinvar/158356 ^@ NM_004380.2(CREBBP):c.3369+1G>T http://identifiers.org/clinvar/158355 ^@ NM_004380.2(CREBBP):c.3310C>T (p.Gln1104Ter) http://identifiers.org/clinvar/158351 ^@ NM_004380.2(CREBBP):c.2791C>T (p.Gln931Ter) http://identifiers.org/clinvar/158350 ^@ NM_004380.2(CREBBP):c.2784G>A (p.Pro928=) http://identifiers.org/clinvar/158349 ^@ NM_004380.2(CREBBP):c.2679G>A (p.Ser893=) http://identifiers.org/clinvar/158348 ^@ NM_004380.2(CREBBP):c.2606_2607delTC (p.Leu869Profs) http://identifiers.org/clinvar/158347 ^@ NM_004380.2(CREBBP):c.2606T>C (p.Leu869Pro) http://identifiers.org/clinvar/158346 ^@ NM_004380.2(CREBBP):c.2535C>A (p.Cys845Ter) http://identifiers.org/clinvar/158345 ^@ NM_004380.2(CREBBP):c.2122_2123delCT (p.Leu708Valfs) http://identifiers.org/clinvar/158344 ^@ NM_004380.2(CREBBP):c.2026delC (p.Gln676Lysfs) http://identifiers.org/clinvar/158343 ^@ NM_004380.2(CREBBP):c.1955A>C (p.His652Pro) http://identifiers.org/clinvar/158342 ^@ NM_004380.2(CREBBP):c.1953T>C (p.Tyr651=) http://identifiers.org/clinvar/158341 ^@ NM_004380.2(CREBBP):c.1821delA (p.Lys607Asnfs) http://identifiers.org/clinvar/158339 ^@ NM_004380.2(CREBBP):c.1590delC (p.Asn530Lysfs) http://identifiers.org/clinvar/158338 ^@ NM_004380.2(CREBBP):c.1270C>T (p.Arg424Ter) http://identifiers.org/clinvar/158337 ^@ NM_004380.2(CREBBP):c.1257G>A (p.Trp419Ter) http://identifiers.org/clinvar/158336 ^@ NM_004380.2(CREBBP):c.1211G>C (p.Cys404Ser) http://identifiers.org/clinvar/158335 ^@ NM_004380.2(CREBBP):c.1156C>T (p.Arg386Ter) http://identifiers.org/clinvar/158334 ^@ NM_004380.2(CREBBP):c.1063C>T (p.Gln355Ter) http://identifiers.org/clinvar/158403 ^@ NM_004380.2(CREBBP):c.953C>A (p.Ser318Ter) http://identifiers.org/clinvar/158393 ^@ NM_004380.2(CREBBP):c.598C>T (p.Gln200Ter) http://identifiers.org/clinvar/158354 ^@ NM_004380.2(CREBBP):c.316C>T (p.Gln106Ter) http://identifiers.org/clinvar/158353 ^@ NM_004380.2(CREBBP):c.299delG (p.Gly100Valfs) http://identifiers.org/clinvar/158352 ^@ NM_004380.2(CREBBP):c.286C>T (p.Gln96Ter) http://identifiers.org/clinvar/158340 ^@ NM_004380.2(CREBBP):c.164A>G (p.Asn55Ser) http://identifiers.org/clinvar/158402 ^@ NM_004380.2(CREBBP):c.86-2A>C http://identifiers.org/clinvar/158360 ^@ NM_004380.2(CREBBP):c.37A>G (p.Lys13Glu) http://identifiers.org/clinvar/158611 ^@ NM_005682.6(ADGRG1):c.-11G>A http://identifiers.org/clinvar/158635 ^@ NM_005682.6(ADGRG1):c.64+15G>T http://identifiers.org/clinvar/158628 ^@ NM_005682.6(ADGRG1):c.265C>T (p.His89Tyr) http://identifiers.org/clinvar/158629 ^@ NM_005682.6(ADGRG1):c.286C>T (p.Arg96Ter) http://identifiers.org/clinvar/158630 ^@ NM_005682.6(ADGRG1):c.287G>A (p.Arg96Gln) http://identifiers.org/clinvar/158631 ^@ NM_005682.6(ADGRG1):c.401C>T (p.Pro134Leu) http://identifiers.org/clinvar/158632 ^@ NM_005682.6(ADGRG1):c.504C>T (p.Ala168=) http://identifiers.org/clinvar/158633 ^@ NM_005682.6(ADGRG1):c.612C>T (p.Pro204=) http://identifiers.org/clinvar/158634 ^@ NM_005682.6(ADGRG1):c.620+1G>A http://identifiers.org/clinvar/158636 ^@ NM_005682.6(ADGRG1):c.761G>A (p.Arg254Gln) http://identifiers.org/clinvar/158637 ^@ NM_005682.6(ADGRG1):c.768G>C (p.Glu256Asp) http://identifiers.org/clinvar/158638 ^@ NM_005682.6(ADGRG1):c.844G>C (p.Gly282Arg) http://identifiers.org/clinvar/158639 ^@ NM_005682.6(ADGRG1):c.900G>C (p.Gln300His) http://identifiers.org/clinvar/158640 ^@ NM_005682.6(ADGRG1):c.918A>C (p.Gln306His) http://identifiers.org/clinvar/158641 ^@ NM_005682.6(ADGRG1):c.996T>C (p.Thr332=) http://identifiers.org/clinvar/158612 ^@ NM_005682.6(ADGRG1):c.1017+8G>A http://identifiers.org/clinvar/158613 ^@ NM_005682.6(ADGRG1):c.1048G>A (p.Val350Ile) http://identifiers.org/clinvar/158614 ^@ NM_005682.6(ADGRG1):c.1063+9G>C http://identifiers.org/clinvar/158615 ^@ NM_005682.6(ADGRG1):c.1168-20C>A http://identifiers.org/clinvar/158616 ^@ NM_005682.6(ADGRG1):c.1246C>T (p.Leu416=) http://identifiers.org/clinvar/158617 ^@ NM_005682.6(ADGRG1):c.1356C>T (p.Ala452=) http://identifiers.org/clinvar/158618 ^@ NM_005682.6(ADGRG1):c.1426C>T (p.Arg476Ter) http://identifiers.org/clinvar/158619 ^@ NM_005682.6(ADGRG1):c.1460T>C (p.Leu487Pro) http://identifiers.org/clinvar/158620 ^@ NM_005682.6(ADGRG1):c.1508T>C (p.Leu503Pro) http://identifiers.org/clinvar/158621 ^@ NM_005682.6(ADGRG1):c.1533T>G (p.Tyr511Ter) http://identifiers.org/clinvar/158622 ^@ NM_005682.6(ADGRG1):c.1665C>T (p.Gly555=) http://identifiers.org/clinvar/158623 ^@ NM_005682.6(ADGRG1):c.1683-41C>T http://identifiers.org/clinvar/158624 ^@ NM_005682.6(ADGRG1):c.1683-5C>T http://identifiers.org/clinvar/158625 ^@ NM_005682.6(ADGRG1):c.1868G>C (p.Trp623Ser) http://identifiers.org/clinvar/158626 ^@ NM_005682.6(ADGRG1):c.1951+10A>G http://identifiers.org/clinvar/158627 ^@ NM_005682.6(ADGRG1):c.1970G>A (p.Trp657Ter) http://identifiers.org/clinvar/160193 ^@ NM_006086.3(TUBB3):c.58-49C>T http://identifiers.org/clinvar/160192 ^@ NM_006086.3(TUBB3):c.58-22C>T http://identifiers.org/clinvar/160190 ^@ NM_006086.3(TUBB3):c.167-6C>T http://identifiers.org/clinvar/160191 ^@ NM_006086.3(TUBB3):c.292G>A (p.Gly98Ser) http://identifiers.org/clinvar/160194 ^@ NM_006086.3(TUBB3):c.666C>T (p.Tyr222=) http://identifiers.org/clinvar/160195 ^@ NM_006086.3(TUBB3):c.728C>T (p.Pro243Leu) http://identifiers.org/clinvar/160196 ^@ NM_006086.3(TUBB3):c.740A>G (p.Asn247Ser) http://identifiers.org/clinvar/160197 ^@ NM_006086.3(TUBB3):c.993G>A (p.Leu331=) http://identifiers.org/clinvar/160188 ^@ NM_006086.3(TUBB3):c.1170G>A (p.Arg390=) http://identifiers.org/clinvar/160189 ^@ NM_006086.3(TUBB3):c.1331C>T (p.Ser444Leu) http://identifiers.org/clinvar/159711 ^@ NM_004278.3(PIGL):c.4G>A (p.Glu2Lys) http://identifiers.org/clinvar/159702 ^@ NM_004278.3(PIGL):c.30G>T (p.Ala10=) http://identifiers.org/clinvar/159701 ^@ NM_004278.3(PIGL):c.169T>C (p.Phe57Leu) http://identifiers.org/clinvar/159703 ^@ NM_004278.3(PIGL):c.337G>T (p.Asp113Tyr) http://identifiers.org/clinvar/159704 ^@ NM_004278.3(PIGL):c.354A>G (p.Pro118=) http://identifiers.org/clinvar/159705 ^@ NM_004278.3(PIGL):c.424C>A (p.Leu142Met) http://identifiers.org/clinvar/159707 ^@ NM_004278.3(PIGL):c.426+8G>A http://identifiers.org/clinvar/159706 ^@ NM_004278.3(PIGL):c.426+14T>C http://identifiers.org/clinvar/159708 ^@ NM_004278.3(PIGL):c.439G>A (p.Asp147Asn) http://identifiers.org/clinvar/159709 ^@ NM_004278.3(PIGL):c.480G>A (p.Leu160=) http://identifiers.org/clinvar/159710 ^@ NM_004278.3(PIGL):c.493A>C (p.Arg165=) http://identifiers.org/clinvar/159712 ^@ NM_004278.3(PIGL):c.526+10G>A http://identifiers.org/clinvar/159713 ^@ NM_004278.3(PIGL):c.534T>C (p.Ser178=) http://identifiers.org/clinvar/159714 ^@ NM_004278.3(PIGL):c.535G>A (p.Val179Met) http://identifiers.org/clinvar/159715 ^@ NM_004278.3(PIGL):c.540C>T (p.Leu180=) http://identifiers.org/clinvar/159716 ^@ NM_004278.3(PIGL):c.595T>C (p.Leu199=) http://identifiers.org/clinvar/159717 ^@ NM_004278.3(PIGL):c.627C>T (p.Phe209=) http://identifiers.org/clinvar/159718 ^@ NM_004278.3(PIGL):c.652C>G (p.Gln218Glu) http://identifiers.org/clinvar/159520 ^@ NM_000430.3(PAFAH1B1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/159514 ^@ NM_000430.3(PAFAH1B1):c.33-3C>T http://identifiers.org/clinvar/159516 ^@ NM_000430.3(PAFAH1B1):c.37C>T (p.Arg13Ter) http://identifiers.org/clinvar/159529 ^@ NM_000430.3(PAFAH1B1):c.56T>G (p.Leu19Arg) http://identifiers.org/clinvar/159543 ^@ NM_000430.3(PAFAH1B1):c.72T>G (p.Tyr24Ter) http://identifiers.org/clinvar/159547 ^@ NM_000430.3(PAFAH1B1):c.84T>G (p.Tyr28Ter) http://identifiers.org/clinvar/159503 ^@ NM_000430.3(PAFAH1B1):c.121G>A (p.Glu41Lys) http://identifiers.org/clinvar/159505 ^@ NM_000430.3(PAFAH1B1):c.136_137delAA (p.Lys46Valfs) http://identifiers.org/clinvar/159506 ^@ NM_000430.3(PAFAH1B1):c.152delT (p.Leu51Trpfs) http://identifiers.org/clinvar/159507 ^@ NM_000430.3(PAFAH1B1):c.163T>A (p.Trp55Arg) http://identifiers.org/clinvar/159511 ^@ NM_000430.3(PAFAH1B1):c.192G>C (p.Lys64Asn) http://identifiers.org/clinvar/159509 ^@ NM_000430.3(PAFAH1B1):c.192+1G>A http://identifiers.org/clinvar/159510 ^@ NM_000430.3(PAFAH1B1):c.192+1G>T http://identifiers.org/clinvar/159508 ^@ NM_000430.3(PAFAH1B1):c.192+15T>C http://identifiers.org/clinvar/159512 ^@ NM_000430.3(PAFAH1B1):c.265C>T (p.Arg89Ter) http://identifiers.org/clinvar/159513 ^@ NM_000430.3(PAFAH1B1):c.305dupA (p.Tyr102Terfs) http://identifiers.org/clinvar/159515 ^@ NM_000430.3(PAFAH1B1):c.371T>A (p.Val124Asp) http://identifiers.org/clinvar/159517 ^@ NM_000430.3(PAFAH1B1):c.386A>T (p.Asp129Val) http://identifiers.org/clinvar/159518 ^@ NM_000430.3(PAFAH1B1):c.387T>C (p.Asp129=) http://identifiers.org/clinvar/159519 ^@ NM_000430.3(PAFAH1B1):c.399+1G>A http://identifiers.org/clinvar/159521 ^@ NM_000430.3(PAFAH1B1):c.405G>A (p.Trp135Ter) http://identifiers.org/clinvar/159522 ^@ NM_000430.3(PAFAH1B1):c.430C>T (p.Arg144Ter) http://identifiers.org/clinvar/159523 ^@ NM_000430.3(PAFAH1B1):c.455_456delCT (p.Ser152Cysfs) http://identifiers.org/clinvar/159524 ^@ NM_000430.3(PAFAH1B1):c.460C>T (p.Gln154Ter) http://identifiers.org/clinvar/159525 ^@ NM_000430.3(PAFAH1B1):c.503G>A (p.Cys168Tyr) http://identifiers.org/clinvar/159526 ^@ NM_000430.3(PAFAH1B1):c.524_528delAACTA (p.Lys175Metfs) http://identifiers.org/clinvar/159527 ^@ NM_000430.3(PAFAH1B1):c.537delT (p.Gln180Argfs) http://identifiers.org/clinvar/159528 ^@ NM_000430.3(PAFAH1B1):c.568+27C>T http://identifiers.org/clinvar/159530 ^@ NM_000430.3(PAFAH1B1):c.632C>G (p.Ser211Ter) http://identifiers.org/clinvar/159531 ^@ NM_000430.3(PAFAH1B1):c.644_651delCTATAAAA (p.Thr215Asnfs) http://identifiers.org/clinvar/159532 ^@ NM_000430.3(PAFAH1B1):c.647_648delTA (p.Ile216Lysfs) http://identifiers.org/clinvar/159533 ^@ NM_000430.3(PAFAH1B1):c.657G>A (p.Trp219Ter) http://identifiers.org/clinvar/159534 ^@ NM_000430.3(PAFAH1B1):c.658delG (p.Glu220Lysfs) http://identifiers.org/clinvar/159535 ^@ NM_000430.3(PAFAH1B1):c.664C>T (p.Gln222Ter) http://identifiers.org/clinvar/159538 ^@ NM_000430.3(PAFAH1B1):c.671G>A (p.Gly224Asp) http://identifiers.org/clinvar/159536 ^@ NM_000430.3(PAFAH1B1):c.671+4A>G http://identifiers.org/clinvar/159537 ^@ NM_000430.3(PAFAH1B1):c.671+5G>A http://identifiers.org/clinvar/159539 ^@ NM_000430.3(PAFAH1B1):c.675C>G (p.Tyr225Ter) http://identifiers.org/clinvar/159540 ^@ NM_000430.3(PAFAH1B1):c.687A>T (p.Thr229=) http://identifiers.org/clinvar/159541 ^@ NM_000430.3(PAFAH1B1):c.693A>T (p.Thr231=) http://identifiers.org/clinvar/159542 ^@ NM_000430.3(PAFAH1B1):c.716dupT (p.Met239Ilefs) http://identifiers.org/clinvar/159544 ^@ NM_000430.3(PAFAH1B1):c.730C>T (p.Gln244Ter) http://identifiers.org/clinvar/159545 ^@ NM_000430.3(PAFAH1B1):c.751A>C (p.Ser251Arg) http://identifiers.org/clinvar/159546 ^@ NM_000430.3(PAFAH1B1):c.841T>C (p.Cys281Arg) http://identifiers.org/clinvar/159548 ^@ NM_000430.3(PAFAH1B1):c.851G>A (p.Trp284Ter) http://identifiers.org/clinvar/159550 ^@ NM_000430.3(PAFAH1B1):c.900G>A (p.Glu300=) http://identifiers.org/clinvar/159549 ^@ NM_000430.3(PAFAH1B1):c.900+1G>A http://identifiers.org/clinvar/159551 ^@ NM_000430.3(PAFAH1B1):c.910delA (p.Ser304Valfs) http://identifiers.org/clinvar/159552 ^@ NM_000430.3(PAFAH1B1):c.938C>T (p.Ser313Phe) http://identifiers.org/clinvar/159553 ^@ NM_000430.3(PAFAH1B1):c.965T>G (p.Met322Arg) http://identifiers.org/clinvar/159487 ^@ NM_000430.3(PAFAH1B1):c.1002C>T (p.Leu334=) http://identifiers.org/clinvar/159486 ^@ NM_000430.3(PAFAH1B1):c.1002+5G>A http://identifiers.org/clinvar/159488 ^@ NM_000430.3(PAFAH1B1):c.1009C>G (p.His337Asp) http://identifiers.org/clinvar/159489 ^@ NM_000430.3(PAFAH1B1):c.1009C>T (p.His337Tyr) http://identifiers.org/clinvar/159490 ^@ NM_000430.3(PAFAH1B1):c.1024_1031delCGTGGAGT (p.Arg342Serfs) http://identifiers.org/clinvar/159491 ^@ NM_000430.3(PAFAH1B1):c.1063delA (p.Ser355Valfs) http://identifiers.org/clinvar/159492 ^@ NM_000430.3(PAFAH1B1):c.1064G>A (p.Ser355Asn) http://identifiers.org/clinvar/159493 ^@ NM_000430.3(PAFAH1B1):c.1100delA (p.Tyr367Serfs) http://identifiers.org/clinvar/159494 ^@ NM_000430.3(PAFAH1B1):c.1111C>T (p.Arg371Ter) http://identifiers.org/clinvar/159495 ^@ NM_000430.3(PAFAH1B1):c.1135C>T (p.His379Tyr) http://identifiers.org/clinvar/159497 ^@ NM_000430.3(PAFAH1B1):c.1159G>T (p.Asp387Tyr) http://identifiers.org/clinvar/159496 ^@ NM_000430.3(PAFAH1B1):c.1159+2T>A http://identifiers.org/clinvar/159498 ^@ NM_000430.3(PAFAH1B1):c.1165C>T (p.His389Tyr) http://identifiers.org/clinvar/159499 ^@ NM_000430.3(PAFAH1B1):c.1188C>T (p.Val396=) http://identifiers.org/clinvar/159500 ^@ NM_000430.3(PAFAH1B1):c.1193G>A (p.Gly398Asp) http://identifiers.org/clinvar/159501 ^@ NM_000430.3(PAFAH1B1):c.1196G>C (p.Ser399Thr) http://identifiers.org/clinvar/159502 ^@ NM_000430.3(PAFAH1B1):c.1201G>C (p.Asp401His) http://identifiers.org/clinvar/159504 ^@ NM_000430.3(PAFAH1B1):c.1233A>C (p.Ter411Cys) http://identifiers.org/clinvar/160132 ^@ NM_207346.2(TSEN54):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/160133 ^@ NM_207346.2(TSEN54):c.285+32C>A http://identifiers.org/clinvar/160134 ^@ NM_207346.2(TSEN54):c.409A>C (p.Ile137Leu) http://identifiers.org/clinvar/160135 ^@ NM_207346.2(TSEN54):c.521+39C>T http://identifiers.org/clinvar/160136 ^@ NM_207346.2(TSEN54):c.575_576delAC (p.His192Leufs) http://identifiers.org/clinvar/160137 ^@ NM_207346.2(TSEN54):c.624-37A>C http://identifiers.org/clinvar/160138 ^@ NM_207346.2(TSEN54):c.624-9G>A http://identifiers.org/clinvar/160139 ^@ NM_207346.2(TSEN54):c.959C>T (p.Pro320Leu) http://identifiers.org/clinvar/160140 ^@ NM_207346.2(TSEN54):c.964C>G (p.Leu322Val) http://identifiers.org/clinvar/160123 ^@ NM_207346.2(TSEN54):c.1041G>C (p.Lys347Asn) http://identifiers.org/clinvar/160124 ^@ NM_207346.2(TSEN54):c.1114G>A (p.Val372Met) http://identifiers.org/clinvar/160125 ^@ NM_207346.2(TSEN54):c.1138G>T (p.Glu380Ter) http://identifiers.org/clinvar/160126 ^@ NM_207346.2(TSEN54):c.1181A>G (p.Gln394Arg) http://identifiers.org/clinvar/160127 ^@ NM_207346.2(TSEN54):c.1310C>T (p.Ala437Val) http://identifiers.org/clinvar/160128 ^@ NM_207346.2(TSEN54):c.1328C>G (p.Ser443Cys) http://identifiers.org/clinvar/160129 ^@ NM_207346.2(TSEN54):c.1335delC (p.Leu446Trpfs) http://identifiers.org/clinvar/160130 ^@ NM_207346.2(TSEN54):c.1468C>T (p.Arg490Trp) http://identifiers.org/clinvar/160131 ^@ NM_207346.2(TSEN54):c.1511T>C (p.Leu504Pro) http://identifiers.org/clinvar/159883 ^@ NM_015559.2(SETBP1):c.46G>A (p.Glu16Lys) http://identifiers.org/clinvar/159884 ^@ NM_015559.2(SETBP1):c.540+7405G>A http://identifiers.org/clinvar/159885 ^@ NM_015559.2(SETBP1):c.691G>C (p.Val231Leu) http://identifiers.org/clinvar/159867 ^@ NM_015559.2(SETBP1):c.1170C>T (p.Ala390=) http://identifiers.org/clinvar/159868 ^@ NM_015559.2(SETBP1):c.1223C>G (p.Ala408Gly) http://identifiers.org/clinvar/159869 ^@ NM_015559.2(SETBP1):c.1503C>T (p.Pro501=) http://identifiers.org/clinvar/159870 ^@ NM_015559.2(SETBP1):c.1932C>T (p.Ser644=) http://identifiers.org/clinvar/159871 ^@ NM_015559.2(SETBP1):c.2602G>C (p.Asp868His) http://identifiers.org/clinvar/159872 ^@ NM_015559.2(SETBP1):c.3301G>A (p.Val1101Ile) http://identifiers.org/clinvar/159873 ^@ NM_015559.2(SETBP1):c.3388C>A (p.Pro1130Thr) http://identifiers.org/clinvar/159874 ^@ NM_015559.2(SETBP1):c.3825A>C (p.Ser1275=) http://identifiers.org/clinvar/159875 ^@ NM_015559.2(SETBP1):c.3825A>G (p.Ser1275=) http://identifiers.org/clinvar/159876 ^@ NM_015559.2(SETBP1):c.3825A>T (p.Ser1275=) http://identifiers.org/clinvar/159877 ^@ NM_015559.2(SETBP1):c.4000+10T>A http://identifiers.org/clinvar/159878 ^@ NM_015559.2(SETBP1):c.4129G>C (p.Val1377Leu) http://identifiers.org/clinvar/159879 ^@ NM_015559.2(SETBP1):c.4290G>A (p.Val1430=) http://identifiers.org/clinvar/159880 ^@ NM_015559.2(SETBP1):c.4398G>T (p.Glu1466Asp) http://identifiers.org/clinvar/159881 ^@ NM_015559.2(SETBP1):c.4554G>A (p.Glu1518=) http://identifiers.org/clinvar/159882 ^@ NM_015559.2(SETBP1):c.4640C>A (p.Thr1547Asn) http://identifiers.org/clinvar/160075 ^@ NM_001083962.1(TCF4):c.*4+30C>T http://identifiers.org/clinvar/160081 ^@ NM_001083962.1(TCF4):c.1840G>C (p.Ala614Pro) http://identifiers.org/clinvar/160080 ^@ NM_001083962.1(TCF4):c.1777_1779delCGC (p.Arg593del) http://identifiers.org/clinvar/160079 ^@ NM_001083962.1(TCF4):c.1741G>T (p.Val581Phe) http://identifiers.org/clinvar/160078 ^@ NM_001083962.1(TCF4):c.1498G>T (p.Gly500Ter) http://identifiers.org/clinvar/160077 ^@ NM_001083962.1(TCF4):c.1350G>A (p.Met450Ile) http://identifiers.org/clinvar/160076 ^@ NM_001083962.1(TCF4):c.1146+1G>A http://identifiers.org/clinvar/160093 ^@ NM_001083962.1(TCF4):c.991-2A>G http://identifiers.org/clinvar/160092 ^@ NM_001083962.1(TCF4):c.990G>A (p.Ser330=) http://identifiers.org/clinvar/160091 ^@ NM_001083962.1(TCF4):c.944C>T (p.Ala315Val) http://identifiers.org/clinvar/160090 ^@ NM_001083962.1(TCF4):c.791delG (p.Ser264Thrfs) http://identifiers.org/clinvar/160089 ^@ NM_001083962.1(TCF4):c.789+23C>T http://identifiers.org/clinvar/160087 ^@ NM_001083962.1(TCF4):c.656-1G>C http://identifiers.org/clinvar/160088 ^@ NM_001083962.1(TCF4):c.656-3C>T http://identifiers.org/clinvar/160086 ^@ NM_001083962.1(TCF4):c.655+1G>A http://identifiers.org/clinvar/160085 ^@ NM_001083962.1(TCF4):c.469C>T (p.Arg157Ter) http://identifiers.org/clinvar/160084 ^@ NM_001083962.1(TCF4):c.415delC (p.Leu139Phefs) http://identifiers.org/clinvar/160083 ^@ NM_001083962.1(TCF4):c.305-165C>T http://identifiers.org/clinvar/160082 ^@ NM_001083962.1(TCF4):c.223A>G (p.Thr75Ala) http://identifiers.org/clinvar/158525 ^@ NM_001005360.2(DNM2):c.235+6A>G http://identifiers.org/clinvar/158524 ^@ NM_001005360.2(DNM2):c.235+12C>A http://identifiers.org/clinvar/158528 ^@ NM_001005360.2(DNM2):c.822G>A (p.Thr274=) http://identifiers.org/clinvar/158529 ^@ NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) http://identifiers.org/clinvar/158513 ^@ NM_001005360.2(DNM2):c.1124T>A (p.Val375Glu) http://identifiers.org/clinvar/158514 ^@ NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) http://identifiers.org/clinvar/158515 ^@ NM_001005360.2(DNM2):c.1567A>G (p.Arg523Gly) http://identifiers.org/clinvar/158516 ^@ NM_001005360.2(DNM2):c.1731G>A (p.Lys577=) http://identifiers.org/clinvar/158517 ^@ NM_001005360.2(DNM2):c.1782-11C>T http://identifiers.org/clinvar/158518 ^@ NM_001005360.2(DNM2):c.1827C>T (p.Ser609=) http://identifiers.org/clinvar/158519 ^@ NM_001005360.2(DNM2):c.1862T>C (p.Leu621Pro) http://identifiers.org/clinvar/158520 ^@ NM_001005360.2(DNM2):c.1880C>G (p.Pro627Arg) http://identifiers.org/clinvar/158521 ^@ NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) http://identifiers.org/clinvar/158522 ^@ NM_001005360.2(DNM2):c.2106G>C (p.Ser702=) http://identifiers.org/clinvar/158523 ^@ NM_001005360.2(DNM2):c.2139T>C (p.Ala713=) http://identifiers.org/clinvar/158526 ^@ NM_001005360.2(DNM2):c.2484G>A (p.Pro828=) http://identifiers.org/clinvar/158527 ^@ NM_001005360.2(DNM2):c.2543+7C>G http://identifiers.org/clinvar/160280 ^@ NM_001083961.1(WDR62):c.32G>C (p.Arg11Pro) http://identifiers.org/clinvar/160307 ^@ NM_001083961.1(WDR62):c.82C>G (p.Arg28Gly) http://identifiers.org/clinvar/160258 ^@ NM_001083961.1(WDR62):c.180G>A (p.Val60=) http://identifiers.org/clinvar/160259 ^@ NM_001083961.1(WDR62):c.186C>G (p.Leu62=) http://identifiers.org/clinvar/160282 ^@ NM_001083961.1(WDR62):c.332+1G>A http://identifiers.org/clinvar/160292 ^@ NM_001083961.1(WDR62):c.359C>A (p.Ser120Tyr) http://identifiers.org/clinvar/160304 ^@ NM_001083961.1(WDR62):c.561+44C>G http://identifiers.org/clinvar/160305 ^@ NM_001083961.1(WDR62):c.562-13C>T http://identifiers.org/clinvar/160306 ^@ NM_001083961.1(WDR62):c.589G>A (p.Val197Ile) http://identifiers.org/clinvar/160308 ^@ NM_001083961.1(WDR62):c.866A>G (p.Lys289Arg) http://identifiers.org/clinvar/160309 ^@ NM_001083961.1(WDR62):c.964G>C (p.Ala322Pro) http://identifiers.org/clinvar/160243 ^@ NM_001083961.1(WDR62):c.1043+3A>G http://identifiers.org/clinvar/160244 ^@ NM_001083961.1(WDR62):c.1225A>G (p.Asn409Asp) http://identifiers.org/clinvar/160245 ^@ NM_001083961.1(WDR62):c.1233+13C>T http://identifiers.org/clinvar/160246 ^@ NM_001083961.1(WDR62):c.1312C>T (p.Arg438Cys) http://identifiers.org/clinvar/160247 ^@ NM_001083961.1(WDR62):c.1315T>G (p.Phe439Val) http://identifiers.org/clinvar/160248 ^@ NM_001083961.1(WDR62):c.1470C>T (p.Asp490=) http://identifiers.org/clinvar/160249 ^@ NM_001083961.1(WDR62):c.1480G>A (p.Gly494Arg) http://identifiers.org/clinvar/160250 ^@ NM_001083961.1(WDR62):c.1486C>T (p.Arg496Trp) http://identifiers.org/clinvar/160251 ^@ NM_001083961.1(WDR62):c.1534C>G (p.Arg512Gly) http://identifiers.org/clinvar/160252 ^@ NM_001083961.1(WDR62):c.1641G>A (p.Thr547=) http://identifiers.org/clinvar/160254 ^@ NM_001083961.1(WDR62):c.1643-39G>A http://identifiers.org/clinvar/160253 ^@ NM_001083961.1(WDR62):c.1643-10C>T http://identifiers.org/clinvar/160255 ^@ NM_001083961.1(WDR62):c.1681A>T (p.Ile561Phe) http://identifiers.org/clinvar/160256 ^@ NM_001083961.1(WDR62):c.1750A>C (p.Thr584Pro) http://identifiers.org/clinvar/160257 ^@ NM_001083961.1(WDR62):c.1768+28G>A http://identifiers.org/clinvar/160260 ^@ NM_001083961.1(WDR62):c.2084_2090dupAAAGCAT (p.Ser698Lysfs) http://identifiers.org/clinvar/160261 ^@ NM_001083961.1(WDR62):c.2147-34G>A http://identifiers.org/clinvar/160262 ^@ NM_001083961.1(WDR62):c.2211-4G>A http://identifiers.org/clinvar/160263 ^@ NM_001083961.1(WDR62):c.2271G>A (p.Leu757=) http://identifiers.org/clinvar/160264 ^@ NM_001083961.1(WDR62):c.2312A>G (p.Lys771Arg) http://identifiers.org/clinvar/160265 ^@ NM_001083961.1(WDR62):c.2334-29C>T http://identifiers.org/clinvar/160266 ^@ NM_001083961.1(WDR62):c.2334-6C>A http://identifiers.org/clinvar/160267 ^@ NM_001083961.1(WDR62):c.2490C>T (p.Asn830=) http://identifiers.org/clinvar/160268 ^@ NM_001083961.1(WDR62):c.2529C>T (p.Asp843=) http://identifiers.org/clinvar/160269 ^@ NM_001083961.1(WDR62):c.2549T>C (p.Leu850Ser) http://identifiers.org/clinvar/160270 ^@ NM_001083961.1(WDR62):c.2566C>T (p.Arg856Cys) http://identifiers.org/clinvar/160271 ^@ NM_001083961.1(WDR62):c.2584G>T (p.Gly862Cys) http://identifiers.org/clinvar/160272 ^@ NM_001083961.1(WDR62):c.2655C>G (p.Tyr885Ter) http://identifiers.org/clinvar/160273 ^@ NM_001083961.1(WDR62):c.2782C>T (p.Leu928=) http://identifiers.org/clinvar/160274 ^@ NM_001083961.1(WDR62):c.2896G>A (p.Gly966Arg) http://identifiers.org/clinvar/160275 ^@ NM_001083961.1(WDR62):c.2945G>A (p.Ser982Asn) http://identifiers.org/clinvar/160276 ^@ NM_001083961.1(WDR62):c.2975C>T (p.Ser992Leu) http://identifiers.org/clinvar/160277 ^@ NM_001083961.1(WDR62):c.2982G>A (p.Glu994=) http://identifiers.org/clinvar/160278 ^@ NM_001083961.1(WDR62):c.3033G>A (p.Pro1011=) http://identifiers.org/clinvar/160279 ^@ NM_001083961.1(WDR62):c.3066G>A (p.Ser1022=) http://identifiers.org/clinvar/160281 ^@ NM_001083961.1(WDR62):c.3303G>A (p.Thr1101=) http://identifiers.org/clinvar/160283 ^@ NM_001083961.1(WDR62):c.3335+3A>G http://identifiers.org/clinvar/160284 ^@ NM_001083961.1(WDR62):c.3336-5C>G http://identifiers.org/clinvar/160285 ^@ NM_001083961.1(WDR62):c.3401T>G (p.Met1134Arg) http://identifiers.org/clinvar/160286 ^@ NM_001083961.1(WDR62):c.3406C>G (p.Arg1136Gly) http://identifiers.org/clinvar/160287 ^@ NM_001083961.1(WDR62):c.3468C>T (p.Leu1156=) http://identifiers.org/clinvar/160288 ^@ NM_001083961.1(WDR62):c.3514+44G>A http://identifiers.org/clinvar/160289 ^@ NM_001083961.1(WDR62):c.3515-7G>A http://identifiers.org/clinvar/160290 ^@ NM_001083961.1(WDR62):c.3559G>A (p.Val1187Met) http://identifiers.org/clinvar/160291 ^@ NM_001083961.1(WDR62):c.3573C>T (p.Asp1191=) http://identifiers.org/clinvar/160293 ^@ NM_001083961.1(WDR62):c.3611G>T (p.Gly1204Val) http://identifiers.org/clinvar/160294 ^@ NM_001083961.1(WDR62):c.3639C>T (p.Ser1213=) http://identifiers.org/clinvar/160295 ^@ NM_001083961.1(WDR62):c.3674G>A (p.Arg1225His) http://identifiers.org/clinvar/160296 ^@ NM_001083961.1(WDR62):c.3698C>G (p.Ser1233Cys) http://identifiers.org/clinvar/160297 ^@ NM_001083961.1(WDR62):c.3948G>A (p.Gln1316=) http://identifiers.org/clinvar/160298 ^@ NM_001083961.1(WDR62):c.4123G>A (p.Gly1375Ser) http://identifiers.org/clinvar/160299 ^@ NM_001083961.1(WDR62):c.4153+37C>G http://identifiers.org/clinvar/160300 ^@ NM_001083961.1(WDR62):c.4159C>A (p.Leu1387Ile) http://identifiers.org/clinvar/160301 ^@ NM_001083961.1(WDR62):c.4170A>C (p.Leu1390Phe) http://identifiers.org/clinvar/160302 ^@ NM_001083961.1(WDR62):c.4312-5T>G http://identifiers.org/clinvar/160303 ^@ NM_001083961.1(WDR62):c.4381T>G (p.Trp1461Gly) http://identifiers.org/clinvar/160242 ^@ NM_001083961.1(WDR62):c.*5G>A http://identifiers.org/clinvar/159861 ^@ NM_000540.2(RYR1):c.831G>C (p.Gln277His) http://identifiers.org/clinvar/159862 ^@ NM_000540.2(RYR1):c.897G>C (p.Val299=) http://identifiers.org/clinvar/159863 ^@ NM_000540.2(RYR1):c.906C>T (p.Asp302=) http://identifiers.org/clinvar/159825 ^@ NM_000540.2(RYR1):c.1001G>T (p.Gly334Val) http://identifiers.org/clinvar/159830 ^@ NM_000540.2(RYR1):c.1140G>A (p.Glu380=) http://identifiers.org/clinvar/159838 ^@ NM_000540.2(RYR1):c.1577-6C>G http://identifiers.org/clinvar/159839 ^@ NM_000540.2(RYR1):c.2091C>T (p.Ala697=) http://identifiers.org/clinvar/159840 ^@ NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) http://identifiers.org/clinvar/159841 ^@ NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) http://identifiers.org/clinvar/159842 ^@ NM_000540.2(RYR1):c.2919C>T (p.His973=) http://identifiers.org/clinvar/159843 ^@ NM_000540.2(RYR1):c.3494G>A (p.Gly1165Asp) http://identifiers.org/clinvar/159844 ^@ NM_000540.2(RYR1):c.3801dupC (p.Cys1268Leufs) http://identifiers.org/clinvar/159845 ^@ NM_000540.2(RYR1):c.3876C>A (p.Leu1292=) http://identifiers.org/clinvar/159846 ^@ NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) http://identifiers.org/clinvar/159847 ^@ NM_000540.2(RYR1):c.4090G>T (p.Gly1364Trp) http://identifiers.org/clinvar/159848 ^@ NM_000540.2(RYR1):c.4094dupG (p.Glu1366Argfs) http://identifiers.org/clinvar/159849 ^@ NM_000540.2(RYR1):c.4225C>T (p.Arg1409Ter) http://identifiers.org/clinvar/159850 ^@ NM_000540.2(RYR1):c.4466G>A (p.Ser1489Asn) http://identifiers.org/clinvar/159851 ^@ NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) http://identifiers.org/clinvar/159852 ^@ NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) http://identifiers.org/clinvar/159853 ^@ NM_000540.2(RYR1):c.5622A>G (p.Glu1874=) http://identifiers.org/clinvar/159854 ^@ NM_000540.2(RYR1):c.5674_5676delAAG (p.Lys1892del) http://identifiers.org/clinvar/159855 ^@ NM_000540.2(RYR1):c.6262G>A (p.Glu2088Lys) http://identifiers.org/clinvar/159856 ^@ NM_000540.2(RYR1):c.6721C>T (p.Arg2241Ter) http://identifiers.org/clinvar/159857 ^@ NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) http://identifiers.org/clinvar/159858 ^@ NM_000540.2(RYR1):c.7425G>A (p.Gln2475=) http://identifiers.org/clinvar/159859 ^@ NM_000540.2(RYR1):c.7487C>G (p.Pro2496Arg) http://identifiers.org/clinvar/159860 ^@ NM_000540.2(RYR1):c.8068-14C>T http://identifiers.org/clinvar/159864 ^@ NM_000540.2(RYR1):c.9579C>G (p.Cys3193Trp) http://identifiers.org/clinvar/159865 ^@ NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) http://identifiers.org/clinvar/159866 ^@ NM_000540.2(RYR1):c.9882C>T (p.Ser3294=) http://identifiers.org/clinvar/159826 ^@ NM_000540.2(RYR1):c.10259+7G>A http://identifiers.org/clinvar/159827 ^@ NM_000540.2(RYR1):c.10564C>A (p.Leu3522Met) http://identifiers.org/clinvar/159828 ^@ NM_000540.2(RYR1):c.10687-7C>A http://identifiers.org/clinvar/159829 ^@ NM_000540.2(RYR1):c.11141+7A>G http://identifiers.org/clinvar/159831 ^@ NM_000540.2(RYR1):c.11625G>A (p.Ala3875=) http://identifiers.org/clinvar/159832 ^@ NM_000540.2(RYR1):c.12094+11A>G http://identifiers.org/clinvar/159833 ^@ NM_000540.2(RYR1):c.12624+14C>T http://identifiers.org/clinvar/159834 ^@ NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) http://identifiers.org/clinvar/159835 ^@ NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) http://identifiers.org/clinvar/159836 ^@ NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) http://identifiers.org/clinvar/159837 ^@ NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) http://identifiers.org/clinvar/158603 ^@ NM_000146.3(FTL):c.*8C>T http://identifiers.org/clinvar/159790 ^@ NM_007254.3(PNKP):c.1482C>A (p.Gly494=) http://identifiers.org/clinvar/159789 ^@ NM_007254.3(PNKP):c.1319C>G (p.Ala440Gly) http://identifiers.org/clinvar/159788 ^@ NM_007254.3(PNKP):c.1295_1298+6delCCAGGTAGCG http://identifiers.org/clinvar/159804 ^@ NM_007254.3(PNKP):c.994C>T (p.Pro332Ser) http://identifiers.org/clinvar/159803 ^@ NM_007254.3(PNKP):c.968C>T (p.Thr323Met) http://identifiers.org/clinvar/159802 ^@ NM_007254.3(PNKP):c.861G>C (p.Val287=) http://identifiers.org/clinvar/159801 ^@ NM_007254.3(PNKP):c.817-47C>T http://identifiers.org/clinvar/159800 ^@ NM_007254.3(PNKP):c.744+8T>C http://identifiers.org/clinvar/159799 ^@ NM_007254.3(PNKP):c.671G>A (p.Arg224His) http://identifiers.org/clinvar/159798 ^@ NM_007254.3(PNKP):c.666C>T (p.Ile222=) http://identifiers.org/clinvar/159797 ^@ NM_007254.3(PNKP):c.579-4G>A http://identifiers.org/clinvar/159796 ^@ NM_007254.3(PNKP):c.498+23A>T http://identifiers.org/clinvar/159795 ^@ NM_007254.3(PNKP):c.457T>C (p.Leu153=) http://identifiers.org/clinvar/159794 ^@ NM_007254.3(PNKP):c.416G>A (p.Arg139His) http://identifiers.org/clinvar/159793 ^@ NM_007254.3(PNKP):c.302C>T (p.Pro101Leu) http://identifiers.org/clinvar/159792 ^@ NM_007254.3(PNKP):c.188C>T (p.Ala63Val) http://identifiers.org/clinvar/159791 ^@ NM_007254.3(PNKP):c.151+18T>G http://identifiers.org/clinvar/160118 ^@ NM_024075.4(TSEN34):c.-4-29G>C http://identifiers.org/clinvar/160120 ^@ NM_024075.4(TSEN34):c.39G>A (p.Val13=) http://identifiers.org/clinvar/160119 ^@ NM_024075.4(TSEN34):c.334C>G (p.Leu112Val) http://identifiers.org/clinvar/160121 ^@ NM_024075.4(TSEN34):c.468G>C (p.Ser156=) http://identifiers.org/clinvar/160122 ^@ NM_024075.4(TSEN34):c.795T= (p.Pro265=) http://identifiers.org/clinvar/159620 ^@ NM_006031.5(PCNT):c.55-5C>T http://identifiers.org/clinvar/159570 ^@ NM_006031.5(PCNT):c.244G>A (p.Ala82Thr) http://identifiers.org/clinvar/159586 ^@ NM_006031.5(PCNT):c.336T>C (p.His112=) http://identifiers.org/clinvar/159587 ^@ NM_006031.5(PCNT):c.339T>A (p.Pro113=) http://identifiers.org/clinvar/159598 ^@ NM_006031.5(PCNT):c.427C>T (p.Arg143Cys) http://identifiers.org/clinvar/159600 ^@ NM_006031.5(PCNT):c.428G>A (p.Arg143His) http://identifiers.org/clinvar/159604 ^@ NM_006031.5(PCNT):c.445A>T (p.Ser149Cys) http://identifiers.org/clinvar/159608 ^@ NM_006031.5(PCNT):c.467A>G (p.His156Arg) http://identifiers.org/clinvar/159609 ^@ NM_006031.5(PCNT):c.467_505del39 (p.His156_Gln168del) http://identifiers.org/clinvar/159616 ^@ NM_006031.5(PCNT):c.506G>A (p.Arg169His) http://identifiers.org/clinvar/159632 ^@ NM_006031.5(PCNT):c.640-38T>G http://identifiers.org/clinvar/159633 ^@ NM_006031.5(PCNT):c.640-8T>G http://identifiers.org/clinvar/159652 ^@ NM_006031.5(PCNT):c.720+32C>T http://identifiers.org/clinvar/159653 ^@ NM_006031.5(PCNT):c.721-7G>A http://identifiers.org/clinvar/159691 ^@ NM_006031.5(PCNT):c.931G>A (p.Ala311Thr) http://identifiers.org/clinvar/159563 ^@ NM_006031.5(PCNT):c.1040A>G (p.Lys347Arg) http://identifiers.org/clinvar/159564 ^@ NM_006031.5(PCNT):c.1207+34A>T http://identifiers.org/clinvar/159565 ^@ NM_006031.5(PCNT):c.1468C>T (p.Gln490Ter) http://identifiers.org/clinvar/159566 ^@ NM_006031.5(PCNT):c.1542C>A (p.Ser514=) http://identifiers.org/clinvar/159567 ^@ NM_006031.5(PCNT):c.1616C>T (p.Thr539Ile) http://identifiers.org/clinvar/159568 ^@ NM_006031.5(PCNT):c.1937-44G>A http://identifiers.org/clinvar/159569 ^@ NM_006031.5(PCNT):c.2111G>A (p.Gly704Glu) http://identifiers.org/clinvar/159571 ^@ NM_006031.5(PCNT):c.2470C>T (p.Leu824=) http://identifiers.org/clinvar/159572 ^@ NM_006031.5(PCNT):c.2556T>C (p.Ala852=) http://identifiers.org/clinvar/159573 ^@ NM_006031.5(PCNT):c.2610-50T>A http://identifiers.org/clinvar/159574 ^@ NM_006031.5(PCNT):c.2610-5C>T http://identifiers.org/clinvar/159575 ^@ NM_006031.5(PCNT):c.2635A>G (p.Thr879Ala) http://identifiers.org/clinvar/159576 ^@ NM_006031.5(PCNT):c.2710C>T (p.Leu904Phe) http://identifiers.org/clinvar/159577 ^@ NM_006031.5(PCNT):c.2714A>G (p.Gln905Arg) http://identifiers.org/clinvar/159578 ^@ NM_006031.5(PCNT):c.2742A>G (p.Ser914=) http://identifiers.org/clinvar/159579 ^@ NM_006031.5(PCNT):c.2928C>G (p.Leu976=) http://identifiers.org/clinvar/159580 ^@ NM_006031.5(PCNT):c.2984_2994delCAGACTTTGAG (p.Ala995Glyfs) http://identifiers.org/clinvar/159581 ^@ NM_006031.5(PCNT):c.3113T>C (p.Val1038Ala) http://identifiers.org/clinvar/159582 ^@ NM_006031.5(PCNT):c.3220C>T (p.Arg1074Trp) http://identifiers.org/clinvar/159583 ^@ NM_006031.5(PCNT):c.3233C>A (p.Ala1078Glu) http://identifiers.org/clinvar/159584 ^@ NM_006031.5(PCNT):c.3282G>T (p.Gln1094His) http://identifiers.org/clinvar/159585 ^@ NM_006031.5(PCNT):c.3339T>C (p.Ser1113=) http://identifiers.org/clinvar/159588 ^@ NM_006031.5(PCNT):c.3465-40C>T http://identifiers.org/clinvar/159589 ^@ NM_006031.5(PCNT):c.3487C>T (p.Arg1163Cys) http://identifiers.org/clinvar/159590 ^@ NM_006031.5(PCNT):c.3580G>A (p.Ala1194Thr) http://identifiers.org/clinvar/159591 ^@ NM_006031.5(PCNT):c.3581C>T (p.Ala1194Val) http://identifiers.org/clinvar/159592 ^@ NM_006031.5(PCNT):c.3615G>A (p.Ala1205=) http://identifiers.org/clinvar/159593 ^@ NM_006031.5(PCNT):c.3748C>T (p.Arg1250Trp) http://identifiers.org/clinvar/159594 ^@ NM_006031.5(PCNT):c.3992A>G (p.His1331Arg) http://identifiers.org/clinvar/159595 ^@ NM_006031.5(PCNT):c.4139C>T (p.Ala1380Val) http://identifiers.org/clinvar/159596 ^@ NM_006031.5(PCNT):c.4175G>A (p.Arg1392Gln) http://identifiers.org/clinvar/159597 ^@ NM_006031.5(PCNT):c.4197C>T (p.Asp1399=) http://identifiers.org/clinvar/159599 ^@ NM_006031.5(PCNT):c.4285C>T (p.Arg1429Cys) http://identifiers.org/clinvar/159601 ^@ NM_006031.5(PCNT):c.4345C>G (p.Gln1449Glu) http://identifiers.org/clinvar/159602 ^@ NM_006031.5(PCNT):c.4354G>A (p.Gly1452Arg) http://identifiers.org/clinvar/159603 ^@ NM_006031.5(PCNT):c.4431G>A (p.Gln1477=) http://identifiers.org/clinvar/159605 ^@ NM_006031.5(PCNT):c.4571C>G (p.Pro1524Arg) http://identifiers.org/clinvar/159606 ^@ NM_006031.5(PCNT):c.4572G>A (p.Pro1524=) http://identifiers.org/clinvar/159607 ^@ NM_006031.5(PCNT):c.4611A>G (p.Arg1537=) http://identifiers.org/clinvar/159610 ^@ NM_006031.5(PCNT):c.4769A>G (p.Asn1590Ser) http://identifiers.org/clinvar/159611 ^@ NM_006031.5(PCNT):c.4844C>T (p.Thr1615Met) http://identifiers.org/clinvar/159612 ^@ NM_006031.5(PCNT):c.4910C>T (p.Pro1637Leu) http://identifiers.org/clinvar/159613 ^@ NM_006031.5(PCNT):c.4915A>G (p.Ile1639Val) http://identifiers.org/clinvar/159614 ^@ NM_006031.5(PCNT):c.4962+10G>A http://identifiers.org/clinvar/159615 ^@ NM_006031.5(PCNT):c.5020G>T (p.Glu1674Ter) http://identifiers.org/clinvar/159617 ^@ NM_006031.5(PCNT):c.5199G>A (p.Lys1733=) http://identifiers.org/clinvar/159618 ^@ NM_006031.5(PCNT):c.5347C>T (p.Pro1783Ser) http://identifiers.org/clinvar/159619 ^@ NM_006031.5(PCNT):c.5431C>T (p.Arg1811Cys) http://identifiers.org/clinvar/159621 ^@ NM_006031.5(PCNT):c.5578G>T (p.Glu1860Ter) http://identifiers.org/clinvar/159622 ^@ NM_006031.5(PCNT):c.5677G>T (p.Ala1893Ser) http://identifiers.org/clinvar/159623 ^@ NM_006031.5(PCNT):c.5727_5736delCCTGGCAGCC (p.Leu1910Glyfs) http://identifiers.org/clinvar/159624 ^@ NM_006031.5(PCNT):c.5742G>A (p.Ala1914=) http://identifiers.org/clinvar/159625 ^@ NM_006031.5(PCNT):c.5774A>C (p.Gln1925Pro) http://identifiers.org/clinvar/159626 ^@ NM_006031.5(PCNT):c.5879G>A (p.Arg1960Gln) http://identifiers.org/clinvar/159627 ^@ NM_006031.5(PCNT):c.5994+38T>C http://identifiers.org/clinvar/159628 ^@ NM_006031.5(PCNT):c.5994+48T>G http://identifiers.org/clinvar/159629 ^@ NM_006031.5(PCNT):c.6150+11G>C http://identifiers.org/clinvar/159630 ^@ NM_006031.5(PCNT):c.6150+30C>A http://identifiers.org/clinvar/159631 ^@ NM_006031.5(PCNT):c.6150+49C>T http://identifiers.org/clinvar/159634 ^@ NM_006031.5(PCNT):c.6571T>C (p.Ser2191Pro) http://identifiers.org/clinvar/159635 ^@ NM_006031.5(PCNT):c.6572C>A (p.Ser2191Tyr) http://identifiers.org/clinvar/159636 ^@ NM_006031.5(PCNT):c.6579G>A (p.Pro2193=) http://identifiers.org/clinvar/159637 ^@ NM_006031.5(PCNT):c.6616A>G (p.Thr2206Ala) http://identifiers.org/clinvar/159638 ^@ NM_006031.5(PCNT):c.6633C>T (p.Pro2211=) http://identifiers.org/clinvar/159639 ^@ NM_006031.5(PCNT):c.6634C>T (p.Arg2212Trp) http://identifiers.org/clinvar/159640 ^@ NM_006031.5(PCNT):c.6722G>A (p.Ser2241Asn) http://identifiers.org/clinvar/159641 ^@ NM_006031.5(PCNT):c.6761G>A (p.Cys2254Tyr) http://identifiers.org/clinvar/159642 ^@ NM_006031.5(PCNT):c.6821C>T (p.Pro2274Leu) http://identifiers.org/clinvar/159643 ^@ NM_006031.5(PCNT):c.6918T>C (p.Ala2306=) http://identifiers.org/clinvar/159645 ^@ NM_006031.5(PCNT):c.6922-5_6922-4insTCTGA http://identifiers.org/clinvar/159644 ^@ NM_006031.5(PCNT):c.6922-4A>T http://identifiers.org/clinvar/159646 ^@ NM_006031.5(PCNT):c.6957T>G (p.Phe2319Leu) http://identifiers.org/clinvar/159647 ^@ NM_006031.5(PCNT):c.6986C>G (p.Pro2329Arg) http://identifiers.org/clinvar/159648 ^@ NM_006031.5(PCNT):c.7011T>C (p.Asp2337=) http://identifiers.org/clinvar/159649 ^@ NM_006031.5(PCNT):c.7040T>C (p.Phe2347Ser) http://identifiers.org/clinvar/159650 ^@ NM_006031.5(PCNT):c.7159G>A (p.Val2387Met) http://identifiers.org/clinvar/159651 ^@ NM_006031.5(PCNT):c.7180-41G>T http://identifiers.org/clinvar/159654 ^@ NM_006031.5(PCNT):c.7297T>C (p.Ser2433Pro) http://identifiers.org/clinvar/159655 ^@ NM_006031.5(PCNT):c.7321-10C>T http://identifiers.org/clinvar/159656 ^@ NM_006031.5(PCNT):c.7353G>A (p.Gly2451=) http://identifiers.org/clinvar/159657 ^@ NM_006031.5(PCNT):c.7404G>C (p.Gln2468His) http://identifiers.org/clinvar/159658 ^@ NM_006031.5(PCNT):c.7465G>A (p.Glu2489Lys) http://identifiers.org/clinvar/159659 ^@ NM_006031.5(PCNT):c.7494+48G>A http://identifiers.org/clinvar/159660 ^@ NM_006031.5(PCNT):c.7648G>A (p.Glu2550Lys) http://identifiers.org/clinvar/159661 ^@ NM_006031.5(PCNT):c.7655G>A (p.Arg2552His) http://identifiers.org/clinvar/159662 ^@ NM_006031.5(PCNT):c.7656C>T (p.Arg2552=) http://identifiers.org/clinvar/159663 ^@ NM_006031.5(PCNT):c.7796delT (p.Leu2599Argfs) http://identifiers.org/clinvar/159664 ^@ NM_006031.5(PCNT):c.7803G>A (p.Ala2601=) http://identifiers.org/clinvar/159665 ^@ NM_006031.5(PCNT):c.7867C>T (p.Leu2623=) http://identifiers.org/clinvar/159666 ^@ NM_006031.5(PCNT):c.7913+32C>T http://identifiers.org/clinvar/159667 ^@ NM_006031.5(PCNT):c.7913+40C>T http://identifiers.org/clinvar/159668 ^@ NM_006031.5(PCNT):c.7914-16C>T http://identifiers.org/clinvar/159669 ^@ NM_006031.5(PCNT):c.7914-4G>A http://identifiers.org/clinvar/159670 ^@ NM_006031.5(PCNT):c.7977G>C (p.Gln2659His) http://identifiers.org/clinvar/159671 ^@ NM_006031.5(PCNT):c.8375A>G (p.Gln2792Arg) http://identifiers.org/clinvar/159672 ^@ NM_006031.5(PCNT):c.8398C>T (p.Arg2800Trp) http://identifiers.org/clinvar/159673 ^@ NM_006031.5(PCNT):c.8418G>A (p.Ala2806=) http://identifiers.org/clinvar/159674 ^@ NM_006031.5(PCNT):c.8672C>T (p.Ala2891Val) http://identifiers.org/clinvar/159675 ^@ NM_006031.5(PCNT):c.8707G>A (p.Ala2903Thr) http://identifiers.org/clinvar/159676 ^@ NM_006031.5(PCNT):c.8707G>C (p.Ala2903Pro) http://identifiers.org/clinvar/159677 ^@ NM_006031.5(PCNT):c.8868dupT (p.Ala2957Cysfs) http://identifiers.org/clinvar/159678 ^@ NM_006031.5(PCNT):c.8873G>A (p.Arg2958His) http://identifiers.org/clinvar/159679 ^@ NM_006031.5(PCNT):c.8889G>A (p.Ser2963=) http://identifiers.org/clinvar/159680 ^@ NM_006031.5(PCNT):c.8895G>A (p.Ala2965=) http://identifiers.org/clinvar/159681 ^@ NM_006031.5(PCNT):c.8917C>T (p.Arg2973Ter) http://identifiers.org/clinvar/159682 ^@ NM_006031.5(PCNT):c.8924T>C (p.Leu2975Pro) http://identifiers.org/clinvar/159683 ^@ NM_006031.5(PCNT):c.8947C>G (p.Leu2983Val) http://identifiers.org/clinvar/159684 ^@ NM_006031.5(PCNT):c.8959C>T (p.Arg2987Trp) http://identifiers.org/clinvar/159685 ^@ NM_006031.5(PCNT):c.8996+45C>A http://identifiers.org/clinvar/159686 ^@ NM_006031.5(PCNT):c.9014C>T (p.Thr3005Met) http://identifiers.org/clinvar/159687 ^@ NM_006031.5(PCNT):c.9015G>A (p.Thr3005=) http://identifiers.org/clinvar/159688 ^@ NM_006031.5(PCNT):c.9174G>A (p.Ala3058=) http://identifiers.org/clinvar/159689 ^@ NM_006031.5(PCNT):c.9273+22T>C http://identifiers.org/clinvar/159690 ^@ NM_006031.5(PCNT):c.9274-3C>T http://identifiers.org/clinvar/159692 ^@ NM_006031.5(PCNT):c.9394-4T>C http://identifiers.org/clinvar/159693 ^@ NM_006031.5(PCNT):c.9584G>A (p.Arg3195Lys) http://identifiers.org/clinvar/159694 ^@ NM_006031.5(PCNT):c.9623+8C>T http://identifiers.org/clinvar/159695 ^@ NM_006031.5(PCNT):c.9698C>G (p.Pro3233Arg) http://identifiers.org/clinvar/159696 ^@ NM_006031.5(PCNT):c.9719C>T (p.Pro3240Leu) http://identifiers.org/clinvar/159697 ^@ NM_006031.5(PCNT):c.9735A>C (p.Arg3245Ser) http://identifiers.org/clinvar/159698 ^@ NM_006031.5(PCNT):c.9740G>A (p.Arg3247Lys) http://identifiers.org/clinvar/159699 ^@ NM_006031.5(PCNT):c.9820T>G (p.Ser3274Ala) http://identifiers.org/clinvar/159700 ^@ NM_006031.5(PCNT):c.9968-3C>T http://identifiers.org/clinvar/160171 ^@ NM_018943.2(TUBA8):c.250C>T (p.Arg84Cys) http://identifiers.org/clinvar/160172 ^@ NM_018943.2(TUBA8):c.324C>T (p.Tyr108=) http://identifiers.org/clinvar/160173 ^@ NM_018943.2(TUBA8):c.383C>T (p.Ala128Val) http://identifiers.org/clinvar/160174 ^@ NM_018943.2(TUBA8):c.816C>T (p.Tyr272=) http://identifiers.org/clinvar/160175 ^@ NM_018943.2(TUBA8):c.958C>T (p.Arg320Trp) http://identifiers.org/clinvar/160170 ^@ NM_018943.2(TUBA8):c.1080G>A (p.Pro360=) http://identifiers.org/clinvar/159909 ^@ NM_005984.4(SLC25A1):c.894T>C (p.Asp298=) http://identifiers.org/clinvar/159908 ^@ NM_005984.4(SLC25A1):c.279T>C (p.Gly93=) http://identifiers.org/clinvar/158610 ^@ NM_000407.4(GP1BB):c.340C>T (p.Arg114Cys) http://identifiers.org/clinvar/158806 ^@ NM_004737.5(LARGE1):c.2073+36C>T http://identifiers.org/clinvar/158804 ^@ NM_004737.5(LARGE1):c.1008T>C (p.Asp336=) http://identifiers.org/clinvar/158809 ^@ NM_004737.5(LARGE1):c.615+8C>T http://identifiers.org/clinvar/158808 ^@ NM_004737.5(LARGE1):c.552G>A (p.Thr184=) http://identifiers.org/clinvar/158807 ^@ NM_004737.5(LARGE1):c.211G>A (p.Glu71Lys) http://identifiers.org/clinvar/158805 ^@ NM_004737.5(LARGE1):c.165G>C (p.Thr55=) http://identifiers.org/clinvar/159767 ^@ NM_003560.2(PLA2G6):c.2396T>A (p.Leu799His) http://identifiers.org/clinvar/159765 ^@ NM_003560.2(PLA2G6):c.2340C>T (p.Asn780=) http://identifiers.org/clinvar/159764 ^@ NM_003560.2(PLA2G6):c.2327_2328delCA (p.Thr776Serfs) http://identifiers.org/clinvar/159763 ^@ NM_003560.2(PLA2G6):c.2246G>C (p.Trp749Ser) http://identifiers.org/clinvar/159762 ^@ NM_003560.2(PLA2G6):c.2233C>T (p.Arg745Trp) http://identifiers.org/clinvar/159761 ^@ NM_003560.2(PLA2G6):c.2215G>C (p.Asp739His) http://identifiers.org/clinvar/159760 ^@ NM_003560.2(PLA2G6):c.2202+5G>A http://identifiers.org/clinvar/159759 ^@ NM_003560.2(PLA2G6):c.2128C>T (p.Arg710Cys) http://identifiers.org/clinvar/159758 ^@ NM_003560.2(PLA2G6):c.2098C>T (p.Gln700Ter) http://identifiers.org/clinvar/159757 ^@ NM_003560.2(PLA2G6):c.2071G>A (p.Val691Ile) http://identifiers.org/clinvar/159754 ^@ NM_003560.2(PLA2G6):c.2068G>A (p.Val690Ile) http://identifiers.org/clinvar/159753 ^@ NM_003560.2(PLA2G6):c.2066T>G (p.Ile689Ser) http://identifiers.org/clinvar/159752 ^@ NM_003560.2(PLA2G6):c.2030G>T (p.Arg677Leu) http://identifiers.org/clinvar/159751 ^@ NM_003560.2(PLA2G6):c.1978C>T (p.Pro660Ser) http://identifiers.org/clinvar/159750 ^@ NM_003560.2(PLA2G6):c.1973A>C (p.Asn658Thr) http://identifiers.org/clinvar/159749 ^@ NM_003560.2(PLA2G6):c.1903C>T (p.Arg635Ter) http://identifiers.org/clinvar/159748 ^@ NM_003560.2(PLA2G6):c.1799G>A (p.Arg600Gln) http://identifiers.org/clinvar/159747 ^@ NM_003560.2(PLA2G6):c.1754C>T (p.Thr585Ile) http://identifiers.org/clinvar/159746 ^@ NM_003560.2(PLA2G6):c.1742+12C>T http://identifiers.org/clinvar/159744 ^@ NM_003560.2(PLA2G6):c.1725G>A (p.Thr575=) http://identifiers.org/clinvar/159743 ^@ NM_003560.2(PLA2G6):c.1699G>A (p.Glu567Lys) http://identifiers.org/clinvar/159742 ^@ NM_003560.2(PLA2G6):c.1674delG (p.Leu560Trpfs) http://identifiers.org/clinvar/159741 ^@ NM_003560.2(PLA2G6):c.1634A>G (p.Lys545Arg) http://identifiers.org/clinvar/159740 ^@ NM_003560.2(PLA2G6):c.1615G>A (p.Gly539Ser) http://identifiers.org/clinvar/159739 ^@ NM_003560.2(PLA2G6):c.1613G>A (p.Arg538His) http://identifiers.org/clinvar/159738 ^@ NM_003560.2(PLA2G6):c.1612C>T (p.Arg538Cys) http://identifiers.org/clinvar/159736 ^@ NM_003560.2(PLA2G6):c.1591+11C>A http://identifiers.org/clinvar/159737 ^@ NM_003560.2(PLA2G6):c.1591+8C>T http://identifiers.org/clinvar/159735 ^@ NM_003560.2(PLA2G6):c.1573G>A (p.Ala525Thr) http://identifiers.org/clinvar/159734 ^@ NM_003560.2(PLA2G6):c.1509delC (p.Ser504Argfs) http://identifiers.org/clinvar/159733 ^@ NM_003560.2(PLA2G6):c.1501G>C (p.Glu501Gln) http://identifiers.org/clinvar/159732 ^@ NM_003560.2(PLA2G6):c.1489C>T (p.Leu497Phe) http://identifiers.org/clinvar/159731 ^@ NM_003560.2(PLA2G6):c.1442T>A (p.Leu481Gln) http://identifiers.org/clinvar/159730 ^@ NM_003560.2(PLA2G6):c.1351delC (p.Leu451Tyrfs) http://identifiers.org/clinvar/159729 ^@ NM_003560.2(PLA2G6):c.1348+9C>T http://identifiers.org/clinvar/159728 ^@ NM_003560.2(PLA2G6):c.1117G>A (p.Gly373Arg) http://identifiers.org/clinvar/159727 ^@ NM_003560.2(PLA2G6):c.1086C>T (p.Asn362=) http://identifiers.org/clinvar/159726 ^@ NM_003560.2(PLA2G6):c.1058C>T (p.Pro353Leu) http://identifiers.org/clinvar/159725 ^@ NM_003560.2(PLA2G6):c.1027G>A (p.Ala343Thr) http://identifiers.org/clinvar/159785 ^@ NM_003560.2(PLA2G6):c.994T>C (p.Cys332Arg) http://identifiers.org/clinvar/159784 ^@ NM_003560.2(PLA2G6):c.986G>A (p.Arg329His) http://identifiers.org/clinvar/159783 ^@ NM_003560.2(PLA2G6):c.972G>A (p.Ala324=) http://identifiers.org/clinvar/159782 ^@ NM_003560.2(PLA2G6):c.957G>A (p.Thr319=) http://identifiers.org/clinvar/159780 ^@ NM_003560.2(PLA2G6):c.821T>G (p.Met274Arg) http://identifiers.org/clinvar/159779 ^@ NM_003560.2(PLA2G6):c.786C>T (p.Phe262=) http://identifiers.org/clinvar/159778 ^@ NM_003560.2(PLA2G6):c.755delA (p.Asn252Thrfs) http://identifiers.org/clinvar/159777 ^@ NM_003560.2(PLA2G6):c.729_740delTGCTCGGTGCAA (p.Ala244_Asn247del) http://identifiers.org/clinvar/159775 ^@ NM_003560.2(PLA2G6):c.673C>T (p.His225Tyr) http://identifiers.org/clinvar/159774 ^@ NM_003560.2(PLA2G6):c.658G>C (p.Gly220Arg) http://identifiers.org/clinvar/159773 ^@ NM_003560.2(PLA2G6):c.517C>T (p.Gln173Ter) http://identifiers.org/clinvar/159771 ^@ NM_003560.2(PLA2G6):c.495G>C (p.Gly165=) http://identifiers.org/clinvar/159770 ^@ NM_003560.2(PLA2G6):c.478T>C (p.Cys160Arg) http://identifiers.org/clinvar/159768 ^@ NM_003560.2(PLA2G6):c.386T>C (p.Leu129Pro) http://identifiers.org/clinvar/159745 ^@ NM_003560.2(PLA2G6):c.172G>A (p.Val58Ile) http://identifiers.org/clinvar/159781 ^@ NM_003560.2(PLA2G6):c.87G>A (p.Val29=) http://identifiers.org/clinvar/159776 ^@ NM_003560.2(PLA2G6):c.68G>A (p.Arg23Gln) http://identifiers.org/clinvar/159769 ^@ NM_003560.2(PLA2G6):c.39C>T (p.Gly13=) http://identifiers.org/clinvar/159772 ^@ NM_003560.2(PLA2G6):c.4C>A (p.Gln2Lys) http://identifiers.org/clinvar/158567 ^@ NM_001429.3(EP300):c.586A>G (p.Ile196Val) http://identifiers.org/clinvar/158571 ^@ NM_001429.3(EP300):c.942C>T (p.Gly314=) http://identifiers.org/clinvar/158556 ^@ NM_001429.3(EP300):c.1529-8T>C http://identifiers.org/clinvar/158557 ^@ NM_001429.3(EP300):c.1782G>C (p.Thr594=) http://identifiers.org/clinvar/158558 ^@ NM_001429.3(EP300):c.2019T>C (p.Pro673=) http://identifiers.org/clinvar/158559 ^@ NM_001429.3(EP300):c.2380-15T>C http://identifiers.org/clinvar/158560 ^@ NM_001429.3(EP300):c.2756G>A (p.Ser919Asn) http://identifiers.org/clinvar/158561 ^@ NM_001429.3(EP300):c.2998-12G>A http://identifiers.org/clinvar/158562 ^@ NM_001429.3(EP300):c.3348G>A (p.Gln1116=) http://identifiers.org/clinvar/158563 ^@ NM_001429.3(EP300):c.3426C>T (p.Cys1142=) http://identifiers.org/clinvar/158564 ^@ NM_001429.3(EP300):c.3665C>A (p.Pro1222His) http://identifiers.org/clinvar/158566 ^@ NM_001429.3(EP300):c.5061+9C>T http://identifiers.org/clinvar/158565 ^@ NM_001429.3(EP300):c.5061+10G>A http://identifiers.org/clinvar/158568 ^@ NM_001429.3(EP300):c.6372C>T (p.Val2124=) http://identifiers.org/clinvar/158569 ^@ NM_001429.3(EP300):c.6636G>A (p.Gln2212=) http://identifiers.org/clinvar/158570 ^@ NM_001429.3(EP300):c.7245G>A (p.Ter2415=) http://identifiers.org/clinvar/158555 ^@ NM_001429.3(EP300):c.*13_*15delGTA http://identifiers.org/clinvar/159558 ^@ NM_001105243.1(PCDH19):c.2834C>A (p.Ala945Glu) http://identifiers.org/clinvar/159557 ^@ NM_001105243.1(PCDH19):c.2601A>G (p.Gln867=) http://identifiers.org/clinvar/159556 ^@ NM_001105243.1(PCDH19):c.2218C>T (p.Arg740Cys) http://identifiers.org/clinvar/159555 ^@ NM_001105243.1(PCDH19):c.1969C>T (p.Leu657Phe) http://identifiers.org/clinvar/159554 ^@ NM_001105243.1(PCDH19):c.1548C>T (p.Tyr516=) http://identifiers.org/clinvar/159562 ^@ NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) http://identifiers.org/clinvar/159561 ^@ NM_001105243.1(PCDH19):c.695A>T (p.Asn232Ile) http://identifiers.org/clinvar/159560 ^@ NM_001105243.1(PCDH19):c.686C>T (p.Thr229Ile) http://identifiers.org/clinvar/159559 ^@ NM_001105243.1(PCDH19):c.497A>T (p.Tyr166Phe) http://identifiers.org/clinvar/158424 ^@ NM_178151.2(DCX):c.1027-2A>G http://identifiers.org/clinvar/158511 ^@ NM_178151.2(DCX):c.907C>T (p.Arg303Ter) http://identifiers.org/clinvar/158510 ^@ NM_178151.2(DCX):c.853A>T (p.Lys285Ter) http://identifiers.org/clinvar/158509 ^@ NM_178151.2(DCX):c.814C>T (p.Arg272Ter) http://identifiers.org/clinvar/158508 ^@ NM_178151.2(DCX):c.809-1G>A http://identifiers.org/clinvar/158507 ^@ NM_178151.2(DCX):c.781C>T (p.Gln261Ter) http://identifiers.org/clinvar/158506 ^@ NM_178151.2(DCX):c.773G>C (p.Arg258Pro) http://identifiers.org/clinvar/158505 ^@ NM_178151.2(DCX):c.766A>T (p.Lys256Ter) http://identifiers.org/clinvar/158504 ^@ NM_178151.2(DCX):c.751G>T (p.Ala251Ser) http://identifiers.org/clinvar/158503 ^@ NM_178151.2(DCX):c.746T>G (p.Phe249Cys) http://identifiers.org/clinvar/158502 ^@ NM_178151.2(DCX):c.740_742delATG (p.Asp247del) http://identifiers.org/clinvar/158501 ^@ NM_178151.2(DCX):c.724T>A (p.Phe242Ile) http://identifiers.org/clinvar/158500 ^@ NM_178151.2(DCX):c.688A>C (p.Thr230Pro) http://identifiers.org/clinvar/158499 ^@ NM_178151.2(DCX):c.683T>C (p.Leu228Pro) http://identifiers.org/clinvar/158498 ^@ NM_178151.2(DCX):c.681delA (p.Lys227Asnfs) http://identifiers.org/clinvar/158497 ^@ NM_178151.2(DCX):c.670delG (p.Val224Leufs) http://identifiers.org/clinvar/158496 ^@ NM_178151.2(DCX):c.667G>A (p.Gly223Arg) http://identifiers.org/clinvar/158495 ^@ NM_178151.2(DCX):c.666delC (p.Val224Leufs) http://identifiers.org/clinvar/158494 ^@ NM_178151.2(DCX):c.651delC (p.Ile218Serfs) http://identifiers.org/clinvar/158493 ^@ NM_178151.2(DCX):c.641T>C (p.Ile214Thr) http://identifiers.org/clinvar/158492 ^@ NM_178151.2(DCX):c.628G>T (p.Val210Phe) http://identifiers.org/clinvar/158491 ^@ NM_178151.2(DCX):c.614A>T (p.His205Leu) http://identifiers.org/clinvar/158490 ^@ NM_178151.2(DCX):c.611C>A (p.Ala204Asp) http://identifiers.org/clinvar/158489 ^@ NM_178151.2(DCX):c.608C>A (p.Thr203Lys) http://identifiers.org/clinvar/158488 ^@ NM_178151.2(DCX):c.607A>G (p.Thr203Ala) http://identifiers.org/clinvar/158487 ^@ NM_178151.2(DCX):c.596T>C (p.Leu199Pro) http://identifiers.org/clinvar/158486 ^@ NM_178151.2(DCX):c.588T>C (p.Arg196=) http://identifiers.org/clinvar/158485 ^@ NM_178151.2(DCX):c.586C>T (p.Arg196Cys) http://identifiers.org/clinvar/158484 ^@ NM_178151.2(DCX):c.586C>G (p.Arg196Gly) http://identifiers.org/clinvar/158483 ^@ NM_178151.2(DCX):c.586C>A (p.Arg196Ser) http://identifiers.org/clinvar/158482 ^@ NM_178151.2(DCX):c.578_585delAGGCTGTG (p.Lys193Thrfs) http://identifiers.org/clinvar/158481 ^@ NM_178151.2(DCX):c.572C>G (p.Pro191Arg) http://identifiers.org/clinvar/158480 ^@ NM_178151.2(DCX):c.571C>A (p.Pro191Thr) http://identifiers.org/clinvar/158478 ^@ NM_178151.2(DCX):c.557G>T (p.Arg186Leu) http://identifiers.org/clinvar/158477 ^@ NM_178151.2(DCX):c.557G>A (p.Arg186His) http://identifiers.org/clinvar/158476 ^@ NM_178151.2(DCX):c.556C>T (p.Arg186Cys) http://identifiers.org/clinvar/158475 ^@ NM_178151.2(DCX):c.551T>A (p.Ile184Asn) http://identifiers.org/clinvar/158474 ^@ NM_178151.2(DCX):c.538A>G (p.Lys180Glu) http://identifiers.org/clinvar/158473 ^@ NM_178151.2(DCX):c.533G>T (p.Arg178Leu) http://identifiers.org/clinvar/158472 ^@ NM_178151.2(DCX):c.532C>T (p.Arg178Cys) http://identifiers.org/clinvar/158471 ^@ NM_178151.2(DCX):c.532C>G (p.Arg178Gly) http://identifiers.org/clinvar/158470 ^@ NM_178151.2(DCX):c.520A>G (p.Lys174Glu) http://identifiers.org/clinvar/158469 ^@ NM_178151.2(DCX):c.494_504delGCAACAGTGCA (p.Ser165Thrfs) http://identifiers.org/clinvar/158468 ^@ NM_178151.2(DCX):c.478_479delCA (p.Gln160Valfs) http://identifiers.org/clinvar/158467 ^@ NM_178151.2(DCX):c.478C>T (p.Gln160Ter) http://identifiers.org/clinvar/158466 ^@ NM_178151.2(DCX):c.451A>T (p.Lys151Ter) http://identifiers.org/clinvar/158465 ^@ NM_178151.2(DCX):c.451A>G (p.Lys151Glu) http://identifiers.org/clinvar/158464 ^@ NM_178151.2(DCX):c.413A>G (p.Tyr138Cys) http://identifiers.org/clinvar/158463 ^@ NM_178151.2(DCX):c.412T>C (p.Tyr138His) http://identifiers.org/clinvar/158462 ^@ NM_178151.2(DCX):c.409G>T (p.Glu137Ter) http://identifiers.org/clinvar/158461 ^@ NM_178151.2(DCX):c.391_393delAAC (p.Asn131del) http://identifiers.org/clinvar/158460 ^@ NM_178151.2(DCX):c.386C>T (p.Ser129Leu) http://identifiers.org/clinvar/158459 ^@ NM_178151.2(DCX):c.380G>A (p.Cys127Tyr) http://identifiers.org/clinvar/158458 ^@ NM_178151.2(DCX):c.377T>A (p.Val126Asp) http://identifiers.org/clinvar/158457 ^@ NM_178151.2(DCX):c.367delG (p.Glu123Lysfs) http://identifiers.org/clinvar/158456 ^@ NM_178151.2(DCX):c.364G>A (p.Gly122Arg) http://identifiers.org/clinvar/158455 ^@ NM_178151.2(DCX):c.339C>A (p.Ile113=) http://identifiers.org/clinvar/158454 ^@ NM_178151.2(DCX):c.337A>T (p.Ile113Phe) http://identifiers.org/clinvar/158453 ^@ NM_178151.2(DCX):c.310A>T (p.Ile104Phe) http://identifiers.org/clinvar/158452 ^@ NM_178151.2(DCX):c.304C>T (p.Arg102Cys) http://identifiers.org/clinvar/158451 ^@ NM_178151.2(DCX):c.301G>A (p.Val101Met) http://identifiers.org/clinvar/158449 ^@ NM_178151.2(DCX):c.299G>T (p.Gly100Val) http://identifiers.org/clinvar/158448 ^@ NM_178151.2(DCX):c.299G>A (p.Gly100Glu) http://identifiers.org/clinvar/158447 ^@ NM_178151.2(DCX):c.290T>G (p.Leu97Arg) http://identifiers.org/clinvar/158446 ^@ NM_178151.2(DCX):c.272T>C (p.Leu91Pro) http://identifiers.org/clinvar/158445 ^@ NM_178151.2(DCX):c.266G>C (p.Arg89Pro) http://identifiers.org/clinvar/158444 ^@ NM_178151.2(DCX):c.265C>T (p.Arg89Ter) http://identifiers.org/clinvar/158443 ^@ NM_178151.2(DCX):c.233G>T (p.Arg78Leu) http://identifiers.org/clinvar/158442 ^@ NM_178151.2(DCX):c.232C>T (p.Arg78Cys) http://identifiers.org/clinvar/158441 ^@ NM_178151.2(DCX):c.226C>T (p.Arg76Cys) http://identifiers.org/clinvar/158440 ^@ NM_178151.2(DCX):c.218C>T (p.Ser73Phe) http://identifiers.org/clinvar/158439 ^@ NM_178151.2(DCX):c.210C>A (p.Tyr70Ter) http://identifiers.org/clinvar/158438 ^@ NM_178151.2(DCX):c.195C>A (p.Phe65Leu) http://identifiers.org/clinvar/158437 ^@ NM_178151.2(DCX):c.191A>G (p.Tyr64Cys) http://identifiers.org/clinvar/158436 ^@ NM_178151.2(DCX):c.187C>T (p.Arg63Cys) http://identifiers.org/clinvar/158435 ^@ NM_178151.2(DCX):c.185A>G (p.Asp62Gly) http://identifiers.org/clinvar/158434 ^@ NM_178151.2(DCX):c.182G>A (p.Gly61Glu) http://identifiers.org/clinvar/158433 ^@ NM_178151.2(DCX):c.176G>A (p.Arg59His) http://identifiers.org/clinvar/158432 ^@ NM_178151.2(DCX):c.170T>G (p.Phe57Cys) http://identifiers.org/clinvar/158431 ^@ NM_178151.2(DCX):c.167G>C (p.Arg56Pro) http://identifiers.org/clinvar/158430 ^@ NM_178151.2(DCX):c.151_154delAAAG (p.Lys51Profs) http://identifiers.org/clinvar/158429 ^@ NM_178151.2(DCX):c.150G>T (p.Lys50Asn) http://identifiers.org/clinvar/158428 ^@ NM_178151.2(DCX):c.130C>T (p.Gln44Ter) http://identifiers.org/clinvar/158427 ^@ NM_178151.2(DCX):c.128T>C (p.Leu43Ser) http://identifiers.org/clinvar/158426 ^@ NM_178151.2(DCX):c.124delA (p.Thr42Profs) http://identifiers.org/clinvar/158425 ^@ NM_178151.2(DCX):c.115C>T (p.Arg39Ter) http://identifiers.org/clinvar/158512 ^@ NM_178151.2(DCX):c.95G>A (p.Ser32Asn) http://identifiers.org/clinvar/158479 ^@ NM_178151.2(DCX):c.55C>T (p.Arg19Ter) http://identifiers.org/clinvar/158450 ^@ NM_178151.2(DCX):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/159933 ^@ NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) http://identifiers.org/clinvar/159931 ^@ NM_001042537.1(SLC9A6):c.183delG (p.Lys61Asnfs) http://identifiers.org/clinvar/159934 ^@ NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) http://identifiers.org/clinvar/159935 ^@ NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) http://identifiers.org/clinvar/159936 ^@ NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) http://identifiers.org/clinvar/159932 ^@ NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) http://identifiers.org/clinvar/159469 ^@ NM_003611.2(OFD1):c.231A>C (p.Leu77Phe) http://identifiers.org/clinvar/159473 ^@ NM_003611.2(OFD1):c.714T>C (p.Tyr238=) http://identifiers.org/clinvar/159463 ^@ NM_003611.2(OFD1):c.1020G>A (p.Glu340=) http://identifiers.org/clinvar/159464 ^@ NM_003611.2(OFD1):c.1264A>G (p.Lys422Glu) http://identifiers.org/clinvar/159465 ^@ NM_003611.2(OFD1):c.1332delA (p.Lys444Asnfs) http://identifiers.org/clinvar/159466 ^@ NM_003611.2(OFD1):c.1654+8A>G http://identifiers.org/clinvar/159467 ^@ NM_003611.2(OFD1):c.2033C>G (p.Ala678Gly) http://identifiers.org/clinvar/159468 ^@ NM_003611.2(OFD1):c.2052C>T (p.Ser684=) http://identifiers.org/clinvar/159470 ^@ NM_003611.2(OFD1):c.2376G>A (p.Glu792=) http://identifiers.org/clinvar/159471 ^@ NM_003611.2(OFD1):c.2387+11C>T http://identifiers.org/clinvar/159472 ^@ NM_003611.2(OFD1):c.2663A>C (p.Lys888Thr) http://identifiers.org/clinvar/158963 ^@ NM_000252.2(MTM1):c.2T>G (p.Met1Arg) http://identifiers.org/clinvar/158969 ^@ NM_000252.2(MTM1):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/158989 ^@ NM_000252.2(MTM1):c.63+1G>A http://identifiers.org/clinvar/158990 ^@ NM_000252.2(MTM1):c.63+3A>T http://identifiers.org/clinvar/158992 ^@ NM_000252.2(MTM1):c.64-14T>C http://identifiers.org/clinvar/158993 ^@ NM_000252.2(MTM1):c.64-1G>A http://identifiers.org/clinvar/159004 ^@ NM_000252.2(MTM1):c.85C>T (p.Arg29Ter) http://identifiers.org/clinvar/158895 ^@ NM_000252.2(MTM1):c.109C>T (p.Arg37Ter) http://identifiers.org/clinvar/158926 ^@ NM_000252.2(MTM1):c.137-7T>G http://identifiers.org/clinvar/158931 ^@ NM_000252.2(MTM1):c.139_141delAAA (p.Lys47del) http://identifiers.org/clinvar/158933 ^@ NM_000252.2(MTM1):c.141A>G (p.Lys47=) http://identifiers.org/clinvar/158939 ^@ NM_000252.2(MTM1):c.145G>A (p.Val49Ile) http://identifiers.org/clinvar/158940 ^@ NM_000252.2(MTM1):c.145G>T (p.Val49Phe) http://identifiers.org/clinvar/158948 ^@ NM_000252.2(MTM1):c.153_156delCATA (p.Ile52Valfs) http://identifiers.org/clinvar/158949 ^@ NM_000252.2(MTM1):c.154delA (p.Ile52Tyrfs) http://identifiers.org/clinvar/158954 ^@ NM_000252.2(MTM1):c.205C>G (p.Arg69Gly) http://identifiers.org/clinvar/158955 ^@ NM_000252.2(MTM1):c.208C>T (p.Leu70Phe) http://identifiers.org/clinvar/158956 ^@ NM_000252.2(MTM1):c.231+1G>A http://identifiers.org/clinvar/158957 ^@ NM_000252.2(MTM1):c.231+2T>G http://identifiers.org/clinvar/158960 ^@ NM_000252.2(MTM1):c.232-3C>A http://identifiers.org/clinvar/158959 ^@ NM_000252.2(MTM1):c.232-2A>C http://identifiers.org/clinvar/158958 ^@ NM_000252.2(MTM1):c.232-1G>A http://identifiers.org/clinvar/158961 ^@ NM_000252.2(MTM1):c.252delT (p.Asp84Glufs) http://identifiers.org/clinvar/158962 ^@ NM_000252.2(MTM1):c.260T>C (p.Leu87Pro) http://identifiers.org/clinvar/158964 ^@ NM_000252.2(MTM1):c.301A>G (p.Ser101Gly) http://identifiers.org/clinvar/158965 ^@ NM_000252.2(MTM1):c.340A>T (p.Lys114Ter) http://identifiers.org/clinvar/158966 ^@ NM_000252.2(MTM1):c.342+4A>G http://identifiers.org/clinvar/158967 ^@ NM_000252.2(MTM1):c.343-2A>G http://identifiers.org/clinvar/158968 ^@ NM_000252.2(MTM1):c.397_398delAT (p.Met133Valfs) http://identifiers.org/clinvar/158970 ^@ NM_000252.2(MTM1):c.402delT (p.Phe134Leufs) http://identifiers.org/clinvar/158971 ^@ NM_000252.2(MTM1):c.420C>G (p.Tyr140Ter) http://identifiers.org/clinvar/158972 ^@ NM_000252.2(MTM1):c.431delT (p.Leu144Argfs) http://identifiers.org/clinvar/158973 ^@ NM_000252.2(MTM1):c.469delG (p.Glu157Lysfs) http://identifiers.org/clinvar/158974 ^@ NM_000252.2(MTM1):c.514G>T (p.Glu172Ter) http://identifiers.org/clinvar/158975 ^@ NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) http://identifiers.org/clinvar/158976 ^@ NM_000252.2(MTM1):c.528+1G>T http://identifiers.org/clinvar/158977 ^@ NM_000252.2(MTM1):c.529-2A>G http://identifiers.org/clinvar/158978 ^@ NM_000252.2(MTM1):c.535C>T (p.Pro179Ser) http://identifiers.org/clinvar/158979 ^@ NM_000252.2(MTM1):c.539_545delATCACCA (p.Asn180Ilefs) http://identifiers.org/clinvar/158980 ^@ NM_000252.2(MTM1):c.549G>A (p.Trp183Ter) http://identifiers.org/clinvar/158981 ^@ NM_000252.2(MTM1):c.550A>G (p.Arg184Gly) http://identifiers.org/clinvar/158982 ^@ NM_000252.2(MTM1):c.557C>T (p.Thr186Ile) http://identifiers.org/clinvar/158983 ^@ NM_000252.2(MTM1):c.561T>C (p.Phe187=) http://identifiers.org/clinvar/158984 ^@ NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) http://identifiers.org/clinvar/158985 ^@ NM_000252.2(MTM1):c.591_594delTTAC (p.Tyr198Leufs) http://identifiers.org/clinvar/158986 ^@ NM_000252.2(MTM1):c.611T>G (p.Val204Gly) http://identifiers.org/clinvar/158987 ^@ NM_000252.2(MTM1):c.614C>T (p.Pro205Leu) http://identifiers.org/clinvar/158988 ^@ NM_000252.2(MTM1):c.629A>G (p.Asp210Gly) http://identifiers.org/clinvar/158991 ^@ NM_000252.2(MTM1):c.637C>T (p.Leu213Phe) http://identifiers.org/clinvar/158994 ^@ NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) http://identifiers.org/clinvar/158995 ^@ NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) http://identifiers.org/clinvar/158996 ^@ NM_000252.2(MTM1):c.678+1G>A http://identifiers.org/clinvar/158997 ^@ NM_000252.2(MTM1):c.679G>A (p.Val227Met) http://identifiers.org/clinvar/158998 ^@ NM_000252.2(MTM1):c.683T>C (p.Leu228Pro) http://identifiers.org/clinvar/158999 ^@ NM_000252.2(MTM1):c.684G>C (p.Leu228=) http://identifiers.org/clinvar/159000 ^@ NM_000252.2(MTM1):c.743G>T (p.Gly248Val) http://identifiers.org/clinvar/159001 ^@ NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) http://identifiers.org/clinvar/159002 ^@ NM_000252.2(MTM1):c.779A>C (p.Tyr260Ser) http://identifiers.org/clinvar/159003 ^@ NM_000252.2(MTM1):c.791T>G (p.Ile264Ser) http://identifiers.org/clinvar/159005 ^@ NM_000252.2(MTM1):c.867+1G>A http://identifiers.org/clinvar/159006 ^@ NM_000252.2(MTM1):c.888_889delAA (p.Ser297Terfs) http://identifiers.org/clinvar/159007 ^@ NM_000252.2(MTM1):c.912delC (p.Glu305Asnfs) http://identifiers.org/clinvar/159008 ^@ NM_000252.2(MTM1):c.913G>A (p.Glu305Lys) http://identifiers.org/clinvar/159009 ^@ NM_000252.2(MTM1):c.924_926delCTT (p.Phe308del) http://identifiers.org/clinvar/159010 ^@ NM_000252.2(MTM1):c.958T>C (p.Ser320Pro) http://identifiers.org/clinvar/159011 ^@ NM_000252.2(MTM1):c.961_962delTT (p.Leu321Lysfs) http://identifiers.org/clinvar/159012 ^@ NM_000252.2(MTM1):c.969delA (p.Val324Terfs) http://identifiers.org/clinvar/158892 ^@ NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) http://identifiers.org/clinvar/158893 ^@ NM_000252.2(MTM1):c.1053+1G>C http://identifiers.org/clinvar/158894 ^@ NM_000252.2(MTM1):c.1088_1089delAA (p.Lys363Serfs) http://identifiers.org/clinvar/158896 ^@ NM_000252.2(MTM1):c.1120C>G (p.His374Asp) http://identifiers.org/clinvar/158897 ^@ NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) http://identifiers.org/clinvar/158898 ^@ NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter) http://identifiers.org/clinvar/158899 ^@ NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter) http://identifiers.org/clinvar/158900 ^@ NM_000252.2(MTM1):c.1139A>T (p.Asp380Val) http://identifiers.org/clinvar/158901 ^@ NM_000252.2(MTM1):c.1160C>A (p.Ser387Tyr) http://identifiers.org/clinvar/158902 ^@ NM_000252.2(MTM1):c.1180G>C (p.Asp394His) http://identifiers.org/clinvar/158903 ^@ NM_000252.2(MTM1):c.1191T>G (p.Tyr397Ter) http://identifiers.org/clinvar/158904 ^@ NM_000252.2(MTM1):c.1205G>C (p.Gly402Ala) http://identifiers.org/clinvar/158905 ^@ NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter) http://identifiers.org/clinvar/158906 ^@ NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) http://identifiers.org/clinvar/158907 ^@ NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) http://identifiers.org/clinvar/158908 ^@ NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu) http://identifiers.org/clinvar/158909 ^@ NM_000252.2(MTM1):c.1254T>C (p.Phe418=) http://identifiers.org/clinvar/158910 ^@ NM_000252.2(MTM1):c.1260+1G>A http://identifiers.org/clinvar/158911 ^@ NM_000252.2(MTM1):c.1260+5G>A http://identifiers.org/clinvar/158912 ^@ NM_000252.2(MTM1):c.1261-1G>C http://identifiers.org/clinvar/158913 ^@ NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) http://identifiers.org/clinvar/158914 ^@ NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) http://identifiers.org/clinvar/158915 ^@ NM_000252.2(MTM1):c.1283_1286delACCA (p.Asn428Thrfs) http://identifiers.org/clinvar/158916 ^@ NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) http://identifiers.org/clinvar/158917 ^@ NM_000252.2(MTM1):c.1307delC (p.Pro436Leufs) http://identifiers.org/clinvar/158918 ^@ NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) http://identifiers.org/clinvar/158919 ^@ NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) http://identifiers.org/clinvar/158920 ^@ NM_000252.2(MTM1):c.1337G>A (p.Trp446Ter) http://identifiers.org/clinvar/158923 ^@ NM_000252.2(MTM1):c.1353G>A (p.Gln451=) http://identifiers.org/clinvar/158921 ^@ NM_000252.2(MTM1):c.1353+1G>A http://identifiers.org/clinvar/158922 ^@ NM_000252.2(MTM1):c.1353+2T>C http://identifiers.org/clinvar/158924 ^@ NM_000252.2(MTM1):c.1354-1G>A http://identifiers.org/clinvar/158925 ^@ NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) http://identifiers.org/clinvar/158927 ^@ NM_000252.2(MTM1):c.1376A>T (p.Asn459Ile) http://identifiers.org/clinvar/158928 ^@ NM_000252.2(MTM1):c.1378G>T (p.Glu460Ter) http://identifiers.org/clinvar/158929 ^@ NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) http://identifiers.org/clinvar/158930 ^@ NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) http://identifiers.org/clinvar/158932 ^@ NM_000252.2(MTM1):c.1406A>G (p.His469Arg) http://identifiers.org/clinvar/158935 ^@ NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) http://identifiers.org/clinvar/158936 ^@ NM_000252.2(MTM1):c.1427G>T (p.Gly476Val) http://identifiers.org/clinvar/158937 ^@ NM_000252.2(MTM1):c.1433T>C (p.Phe478Ser) http://identifiers.org/clinvar/158938 ^@ NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter) http://identifiers.org/clinvar/158941 ^@ NM_000252.2(MTM1):c.1464_1467delACAG (p.Gln489Argfs) http://identifiers.org/clinvar/158942 ^@ NM_000252.2(MTM1):c.1467+1G>A http://identifiers.org/clinvar/158943 ^@ NM_000252.2(MTM1):c.1467+1G>T http://identifiers.org/clinvar/158944 ^@ NM_000252.2(MTM1):c.1467+2T>A http://identifiers.org/clinvar/158945 ^@ NM_000252.2(MTM1):c.1490C>A (p.Ser497Tyr) http://identifiers.org/clinvar/158946 ^@ NM_000252.2(MTM1):c.1495T>C (p.Trp499Arg) http://identifiers.org/clinvar/158947 ^@ NM_000252.2(MTM1):c.1509delC (p.Asn503Lysfs) http://identifiers.org/clinvar/158950 ^@ NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) http://identifiers.org/clinvar/158951 ^@ NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) http://identifiers.org/clinvar/158952 ^@ NM_000252.2(MTM1):c.1702A>G (p.Ile568Val) http://identifiers.org/clinvar/158953 ^@ NM_000252.2(MTM1):c.1792delC (p.His598Metfs) http://identifiers.org/clinvar/159451 ^@ NM_015922.2(NSDHL):c.25A>G (p.Met9Val) http://identifiers.org/clinvar/159450 ^@ NM_015922.2(NSDHL):c.132T>G (p.Gly44=) http://identifiers.org/clinvar/159452 ^@ NM_015922.2(NSDHL):c.595C>T (p.Arg199Cys) http://identifiers.org/clinvar/159453 ^@ NM_015922.2(NSDHL):c.727G>A (p.Val243Met) http://identifiers.org/clinvar/159454 ^@ NM_015922.2(NSDHL):c.757C>T (p.Gln253Ter) http://identifiers.org/clinvar/159455 ^@ NM_015922.2(NSDHL):c.790-5G>A http://identifiers.org/clinvar/159456 ^@ NM_001129765.1(NSDHL):c.904delT (p.Tyr302Thrfs) http://identifiers.org/clinvar/159457 ^@ NM_015922.2(NSDHL):c.906C>A (p.Tyr302Ter) http://identifiers.org/clinvar/159458 ^@ NM_015922.2(NSDHL):c.942C>T (p.Ile314=) http://identifiers.org/clinvar/159448 ^@ NM_015922.2(NSDHL):c.1054C>T (p.Leu352=) http://identifiers.org/clinvar/159449 ^@ NM_001129765.1(NSDHL):c.1114delG (p.Val372Serfs) http://identifiers.org/clinvar/158794 ^@ NM_000425.4(L1CAM):c.2537G>T (p.Arg846Leu) http://identifiers.org/clinvar/158796 ^@ NM_000425.4(L1CAM):c.855C>T (p.Ala285=) http://identifiers.org/clinvar/158795 ^@ NM_000425.4(L1CAM):c.400+9C>T http://identifiers.org/clinvar/158881 ^@ NM_004992.3(MECP2):c.1202G>C (p.Ser401Thr) http://identifiers.org/clinvar/158880 ^@ NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) http://identifiers.org/clinvar/158884 ^@ NM_004992.3(MECP2):c.816G>A (p.Pro272=) http://identifiers.org/clinvar/158883 ^@ NM_004992.3(MECP2):c.506A>G (p.Glu169Gly) http://identifiers.org/clinvar/158882 ^@ NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) http://identifiers.org/clinvar/158175 ^@ NM_003159.2(CDKL5):c.-391G>T http://identifiers.org/clinvar/158174 ^@ NM_003159.2(CDKL5):c.-265C>G http://identifiers.org/clinvar/158187 ^@ NM_003159.2(CDKL5):c.62A>G (p.Glu21Gly) http://identifiers.org/clinvar/158179 ^@ NM_003159.2(CDKL5):c.146-1G>A http://identifiers.org/clinvar/158182 ^@ NM_003159.2(CDKL5):c.248G>T (p.Gly83Val) http://identifiers.org/clinvar/158184 ^@ NM_003159.2(CDKL5):c.283-13A>G http://identifiers.org/clinvar/158185 ^@ NM_003159.2(CDKL5):c.526T>C (p.Trp176Arg) http://identifiers.org/clinvar/158186 ^@ NM_003159.2(CDKL5):c.622C>T (p.Gln208Ter) http://identifiers.org/clinvar/158188 ^@ NM_003159.2(CDKL5):c.969G>A (p.Leu323=) http://identifiers.org/clinvar/158176 ^@ NM_003159.2(CDKL5):c.1071C>T (p.Asp357=) http://identifiers.org/clinvar/158177 ^@ NM_003159.2(CDKL5):c.1345_1346delGA (p.Glu449Lysfs) http://identifiers.org/clinvar/158178 ^@ NM_003159.2(CDKL5):c.1400A>G (p.His467Arg) http://identifiers.org/clinvar/158180 ^@ NM_003159.2(CDKL5):c.1678A>G (p.Thr560Ala) http://identifiers.org/clinvar/158181 ^@ NM_003159.2(CDKL5):c.1797dupC (p.Ser600Glnfs) http://identifiers.org/clinvar/158183 ^@ NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) http://identifiers.org/clinvar/158689 ^@ NM_021140.3(KDM6A):c.3111G>A (p.Gln1037=) http://identifiers.org/clinvar/158690 ^@ NM_021140.3(KDM6A):c.4005+14T>C http://identifiers.org/clinvar/158691 ^@ NM_021140.3(KDM6A):c.4052G>A (p.Arg1351Gln) http://identifiers.org/clinvar/158531 ^@ NM_006579.2(EBP):c.15G>T (p.Ala5=) http://identifiers.org/clinvar/158530 ^@ NM_006579.2(EBP):c.141G>T (p.Trp47Cys) http://identifiers.org/clinvar/158532 ^@ NM_006579.2(EBP):c.182G>A (p.Trp61Ter) http://identifiers.org/clinvar/158533 ^@ NM_006579.2(EBP):c.204G>T (p.Trp68Cys) http://identifiers.org/clinvar/158534 ^@ NM_006579.2(EBP):c.214T>C (p.Cys72Arg) http://identifiers.org/clinvar/158535 ^@ NM_006579.2(EBP):c.218G>A (p.Gly73Glu) http://identifiers.org/clinvar/158536 ^@ NM_006579.2(EBP):c.292_296delTCTCA (p.Ser98Thrfs) http://identifiers.org/clinvar/158537 ^@ NM_006579.2(EBP):c.299T>C (p.Leu100Pro) http://identifiers.org/clinvar/158538 ^@ NM_006579.2(EBP):c.301+2T>A http://identifiers.org/clinvar/158539 ^@ NM_006579.2(EBP):c.303G>T (p.Trp101Cys) http://identifiers.org/clinvar/158540 ^@ NM_006579.2(EBP):c.304A>T (p.Lys102Ter) http://identifiers.org/clinvar/158541 ^@ NM_006579.2(EBP):c.310T>C (p.Tyr104His) http://identifiers.org/clinvar/158542 ^@ NM_006579.2(EBP):c.311A>G (p.Tyr104Cys) http://identifiers.org/clinvar/158543 ^@ NM_006579.2(EBP):c.314C>A (p.Ala105Asp) http://identifiers.org/clinvar/158544 ^@ NM_006579.2(EBP):c.320G>A (p.Gly107Glu) http://identifiers.org/clinvar/158545 ^@ NM_006579.2(EBP):c.328C>T (p.Arg110Ter) http://identifiers.org/clinvar/158546 ^@ NM_006579.2(EBP):c.331T>C (p.Tyr111His) http://identifiers.org/clinvar/158547 ^@ NM_006579.2(EBP):c.382C>T (p.Leu128=) http://identifiers.org/clinvar/158548 ^@ NM_006579.2(EBP):c.464_465delCT (p.Ser155Cysfs) http://identifiers.org/clinvar/158549 ^@ NM_006579.2(EBP):c.480T>G (p.Tyr160Ter) http://identifiers.org/clinvar/158550 ^@ NM_006579.2(EBP):c.481G>A (p.Gly161Arg) http://identifiers.org/clinvar/158551 ^@ NM_006579.2(EBP):c.511C>T (p.Arg171Cys) http://identifiers.org/clinvar/158552 ^@ NM_006579.2(EBP):c.527A>G (p.His176Arg) http://identifiers.org/clinvar/158553 ^@ NM_006579.2(EBP):c.632T>G (p.Leu211Arg) http://identifiers.org/clinvar/158554 ^@ NM_006579.2(EBP):c.687_689delGAA (p.Lys229del) http://identifiers.org/clinvar/159937 ^@ NM_006306.3(SMC1A):c.*14C>T http://identifiers.org/clinvar/159958 ^@ NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) http://identifiers.org/clinvar/159957 ^@ NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) http://identifiers.org/clinvar/159956 ^@ NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys) http://identifiers.org/clinvar/159955 ^@ NM_006306.3(SMC1A):c.3252C>T (p.Ile1084=) http://identifiers.org/clinvar/159954 ^@ NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) http://identifiers.org/clinvar/239283 ^@ NM_002691.3(POLD1):c.2317G>A (p.Ala773Thr) http://identifiers.org/clinvar/239284 ^@ NM_002691.3(POLD1):c.2326C>T (p.Arg776Trp) http://identifiers.org/clinvar/239285 ^@ NM_002691.3(POLD1):c.2327G>A (p.Arg776Gln) http://identifiers.org/clinvar/239287 ^@ NM_002691.3(POLD1):c.2337G>A (p.Ala779=) http://identifiers.org/clinvar/239288 ^@ NM_002691.3(POLD1):c.2397C>A (p.Phe799Leu) http://identifiers.org/clinvar/239289 ^@ NM_002691.3(POLD1):c.2424C>A (p.Arg808=) http://identifiers.org/clinvar/239290 ^@ NM_002691.3(POLD1):c.2427C>T (p.Tyr809=) http://identifiers.org/clinvar/239291 ^@ NM_002691.3(POLD1):c.2428G>A (p.Ala810Thr) http://identifiers.org/clinvar/239292 ^@ NM_002691.3(POLD1):c.2436G>C (p.Leu812=) http://identifiers.org/clinvar/239293 ^@ NM_002691.3(POLD1):c.2454C>T (p.Pro818=) http://identifiers.org/clinvar/239295 ^@ NM_002691.3(POLD1):c.2470A>G (p.Met824Val) http://identifiers.org/clinvar/239296 ^@ NM_002691.3(POLD1):c.2515C>A (p.Leu839Ile) http://identifiers.org/clinvar/239297 ^@ NM_002691.3(POLD1):c.2537C>T (p.Ala846Val) http://identifiers.org/clinvar/239298 ^@ NM_002691.3(POLD1):c.2549G>A (p.Arg850His) http://identifiers.org/clinvar/239299 ^@ NM_002691.3(POLD1):c.2560G>A (p.Asp854Asn) http://identifiers.org/clinvar/239300 ^@ NM_002691.3(POLD1):c.2560G>T (p.Asp854Tyr) http://identifiers.org/clinvar/239302 ^@ NM_002691.3(POLD1):c.2564G>T (p.Arg855Leu) http://identifiers.org/clinvar/239301 ^@ NM_002691.3(POLD1):c.2564+5G>A http://identifiers.org/clinvar/239303 ^@ NM_002691.3(POLD1):c.2577C>T (p.Gly859=) http://identifiers.org/clinvar/239305 ^@ NM_002691.3(POLD1):c.2700C>T (p.His900=) http://identifiers.org/clinvar/239306 ^@ NM_002691.3(POLD1):c.2717+8G>A http://identifiers.org/clinvar/239307 ^@ NM_002691.3(POLD1):c.2717+9C>G http://identifiers.org/clinvar/239308 ^@ NM_002691.3(POLD1):c.2717+9C>T http://identifiers.org/clinvar/239309 ^@ NM_002691.3(POLD1):c.2718-5C>T http://identifiers.org/clinvar/239310 ^@ NM_002691.3(POLD1):c.2731G>A (p.Asp911Asn) http://identifiers.org/clinvar/239311 ^@ NM_002691.3(POLD1):c.2802C>T (p.Ala934=) http://identifiers.org/clinvar/239312 ^@ NM_002691.3(POLD1):c.2825dupC (p.Leu943Alafs) http://identifiers.org/clinvar/239313 ^@ NM_002691.3(POLD1):c.2826G>A (p.Pro942=) http://identifiers.org/clinvar/239314 ^@ NM_002691.3(POLD1):c.2861C>G (p.Thr954Arg) http://identifiers.org/clinvar/239315 ^@ NM_002691.3(POLD1):c.2861C>T (p.Thr954Met) http://identifiers.org/clinvar/239316 ^@ NM_002691.3(POLD1):c.2865G>A (p.Gln955=) http://identifiers.org/clinvar/239317 ^@ NM_002691.3(POLD1):c.2902C>G (p.Arg968Gly) http://identifiers.org/clinvar/239318 ^@ NM_002691.3(POLD1):c.2910C>T (p.Phe970=) http://identifiers.org/clinvar/239319 ^@ NM_002691.3(POLD1):c.2933G>A (p.Arg978His) http://identifiers.org/clinvar/239320 ^@ NM_002691.3(POLD1):c.2941G>T (p.Ala981Ser) http://identifiers.org/clinvar/239321 ^@ NM_002691.3(POLD1):c.2955G>T (p.Arg985=) http://identifiers.org/clinvar/239322 ^@ NM_002691.3(POLD1):c.2958G>C (p.Gly986=) http://identifiers.org/clinvar/239323 ^@ NM_002691.3(POLD1):c.2964C>T (p.His988=) http://identifiers.org/clinvar/239324 ^@ NM_002691.3(POLD1):c.2966C>T (p.Thr989Met) http://identifiers.org/clinvar/239325 ^@ NM_002691.3(POLD1):c.2979G>A (p.Thr993=) http://identifiers.org/clinvar/239326 ^@ NM_002691.3(POLD1):c.2983C>T (p.Leu995Phe) http://identifiers.org/clinvar/239327 ^@ NM_002691.3(POLD1):c.2994G>C (p.Lys998Asn) http://identifiers.org/clinvar/239328 ^@ NM_002691.3(POLD1):c.3000C>T (p.Gly1000=) http://identifiers.org/clinvar/239329 ^@ NM_002691.3(POLD1):c.3054G>A (p.Val1018=) http://identifiers.org/clinvar/239330 ^@ NM_002691.3(POLD1):c.3072C>T (p.Ala1024=) http://identifiers.org/clinvar/239331 ^@ NM_002691.3(POLD1):c.3095G>A (p.Arg1032Gln) http://identifiers.org/clinvar/239332 ^@ NM_002691.3(POLD1):c.3156G>A (p.Ser1052=) http://identifiers.org/clinvar/239334 ^@ NM_002691.3(POLD1):c.3218+5G>A http://identifiers.org/clinvar/239336 ^@ NM_002691.3(POLD1):c.3219-5C>T http://identifiers.org/clinvar/239335 ^@ NM_002691.3(POLD1):c.3219-4G>A http://identifiers.org/clinvar/239337 ^@ NM_002691.3(POLD1):c.3231C>T (p.Pro1077=) http://identifiers.org/clinvar/239338 ^@ NM_002691.3(POLD1):c.3257G>A (p.Arg1086Gln) http://identifiers.org/clinvar/239339 ^@ NM_002691.3(POLD1):c.3277G>A (p.Glu1093Lys) http://identifiers.org/clinvar/239340 ^@ NM_002691.3(POLD1):c.3290G>A (p.Arg1097Gln) http://identifiers.org/clinvar/239341 ^@ NM_002691.3(POLD1):c.3293G>T (p.Arg1098Leu) http://identifiers.org/clinvar/239342 ^@ NM_002691.3(POLD1):c.3321G>C (p.Trp1107Cys) http://identifiers.org/clinvar/237692 ^@ NM_000363.4(TNNI3):c.599G>A (p.Gly200Glu) http://identifiers.org/clinvar/237691 ^@ NM_000363.4(TNNI3):c.374T>C (p.Ile125Thr) http://identifiers.org/clinvar/237690 ^@ NM_000363.4(TNNI3):c.282+5C>G http://identifiers.org/clinvar/237689 ^@ NM_000363.4(TNNI3):c.173A>G (p.Lys58Arg) http://identifiers.org/clinvar/237688 ^@ NM_000363.4(TNNI3):c.108+4G>T http://identifiers.org/clinvar/238685 ^@ NM_001256714.1(DNAAF3):c.1611delA (p.Glu537Aspfs) http://identifiers.org/clinvar/238683 ^@ NM_001256714.1(DNAAF3):c.1364+10G>T http://identifiers.org/clinvar/238686 ^@ NM_001256714.1(DNAAF3):c.527-5C>T http://identifiers.org/clinvar/238684 ^@ NM_001256714.1(DNAAF3):c.147C>T (p.Thr49=) http://identifiers.org/clinvar/238687 ^@ NM_001256714.1(DNAAF3):c.59T>G (p.Val20Gly) http://identifiers.org/clinvar/240288 ^@ NM_006087.3(TUBB4A):c.921C>T (p.His307=) http://identifiers.org/clinvar/240695 ^@ NM_006702.4(PNPLA6):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/240702 ^@ NM_006702.4(PNPLA6):c.45C>T (p.Ile15=) http://identifiers.org/clinvar/240703 ^@ NM_006702.4(PNPLA6):c.64G>C (p.Val22Leu) http://identifiers.org/clinvar/240690 ^@ NM_006702.4(PNPLA6):c.116-8A>G http://identifiers.org/clinvar/240691 ^@ NM_006702.4(PNPLA6):c.1340C>T (p.Pro447Leu) http://identifiers.org/clinvar/240692 ^@ NM_006702.4(PNPLA6):c.1587C>G (p.Pro529=) http://identifiers.org/clinvar/240693 ^@ NM_006702.4(PNPLA6):c.2980-5C>T http://identifiers.org/clinvar/240694 ^@ NM_006702.4(PNPLA6):c.2981G>C (p.Ser994Thr) http://identifiers.org/clinvar/240696 ^@ NM_006702.4(PNPLA6):c.3261C>T (p.Gly1087=) http://identifiers.org/clinvar/240697 ^@ NM_006702.4(PNPLA6):c.3336G>A (p.Gly1112=) http://identifiers.org/clinvar/240698 ^@ NM_006702.4(PNPLA6):c.3381C>T (p.Ser1127=) http://identifiers.org/clinvar/240699 ^@ NM_006702.4(PNPLA6):c.3489G>A (p.Gln1163=) http://identifiers.org/clinvar/240700 ^@ NM_006702.4(PNPLA6):c.3610G>A (p.Ala1204Thr) http://identifiers.org/clinvar/240701 ^@ NM_006702.4(PNPLA6):c.3654G>T (p.Met1218Ile) http://identifiers.org/clinvar/241286 ^@ NM_018848.3(MKKS):c.638C>G (p.Thr213Ser) http://identifiers.org/clinvar/237220 ^@ NM_000214.2(JAG1):c.2895dupT (p.Asn966Terfs) http://identifiers.org/clinvar/241743 ^@ NM_033118.3(MYLK2):c.403G>A (p.Gly135Ser) http://identifiers.org/clinvar/241741 ^@ NM_033118.3(MYLK2):c.1265T>C (p.Val422Ala) http://identifiers.org/clinvar/241742 ^@ NM_033118.3(MYLK2):c.1290A>C (p.Ala430=) http://identifiers.org/clinvar/239498 ^@ NM_003098.2(SNTA1):c.1350C>T (p.Phe450=) http://identifiers.org/clinvar/241294 ^@ NM_020433.4(JPH2):c.1363C>T (p.Arg455Trp) http://identifiers.org/clinvar/241295 ^@ NM_020433.4(JPH2):c.869C>T (p.Thr290Ile) http://identifiers.org/clinvar/241604 ^@ NM_030777.3(SLC2A10):c.252G>A (p.Val84=) http://identifiers.org/clinvar/241605 ^@ NM_030777.3(SLC2A10):c.630C>T (p.Gly210=) http://identifiers.org/clinvar/241606 ^@ NM_030777.3(SLC2A10):c.674G>A (p.Arg225His) http://identifiers.org/clinvar/241607 ^@ NM_030777.3(SLC2A10):c.696C>G (p.Thr232=) http://identifiers.org/clinvar/238181 ^@ NM_000744.6(CHRNA4):c.1867C>T (p.Leu623=) http://identifiers.org/clinvar/238183 ^@ NM_000744.6(CHRNA4):c.900A>G (p.Ser300=) http://identifiers.org/clinvar/238182 ^@ NM_000744.6(CHRNA4):c.876C>T (p.Ile292=) http://identifiers.org/clinvar/242009 ^@ NM_172107.3(KCNQ2):c.1506G>A (p.Ala502=) http://identifiers.org/clinvar/242008 ^@ NM_172107.3(KCNQ2):c.1388_1389delTG (p.Val463Glufs) http://identifiers.org/clinvar/242007 ^@ NM_172107.3(KCNQ2):c.1233G>A (p.Pro411=) http://identifiers.org/clinvar/241601 ^@ NM_025219.2(DNAJC5):c.228C>T (p.Tyr76=) http://identifiers.org/clinvar/241602 ^@ NM_025219.2(DNAJC5):c.342C>T (p.Gly114=) http://identifiers.org/clinvar/241022 ^@ NM_015192.3(PLCB1):c.1167+9T>C http://identifiers.org/clinvar/241023 ^@ NM_015192.3(PLCB1):c.1470C>T (p.Tyr490=) http://identifiers.org/clinvar/241024 ^@ NM_015192.3(PLCB1):c.1782T>C (p.Leu594=) http://identifiers.org/clinvar/241378 ^@ NM_021254.2(C21orf59):c.622G>A (p.Val208Met) http://identifiers.org/clinvar/241377 ^@ NM_021254.2(C21orf59):c.391G>A (p.Gly131Ser) http://identifiers.org/clinvar/241376 ^@ NM_021254.2(C21orf59):c.250G>A (p.Val84Ile) http://identifiers.org/clinvar/241379 ^@ NM_021254.2(C21orf59):c.77A>C (p.Glu26Ala) http://identifiers.org/clinvar/237230 ^@ NM_000219.5(KCNE1):c.175C>T (p.Leu59=) http://identifiers.org/clinvar/237229 ^@ NM_000219.5(KCNE1):c.123G>C (p.Lys41Asn) http://identifiers.org/clinvar/239042 ^@ NM_001754.4(RUNX1):c.1269C>T (p.Arg423=) http://identifiers.org/clinvar/239040 ^@ NM_001754.4(RUNX1):c.1098_1103dupCGGCAT (p.Gly367_Met368insIleGly) http://identifiers.org/clinvar/239039 ^@ NM_001754.4(RUNX1):c.1005G>T (p.Gln335His) http://identifiers.org/clinvar/239058 ^@ NM_001754.4(RUNX1):c.938T>G (p.Leu313Arg) http://identifiers.org/clinvar/239057 ^@ NM_001754.4(RUNX1):c.927C>T (p.Gly309=) http://identifiers.org/clinvar/239056 ^@ NM_001754.4(RUNX1):c.832C>T (p.Pro278Ser) http://identifiers.org/clinvar/239055 ^@ NM_001754.4(RUNX1):c.749G>A (p.Arg250His) http://identifiers.org/clinvar/239054 ^@ NM_001754.4(RUNX1):c.737C>T (p.Thr246Met) http://identifiers.org/clinvar/239053 ^@ NM_001754.4(RUNX1):c.667G>A (p.Glu223Lys) http://identifiers.org/clinvar/239052 ^@ NM_001754.4(RUNX1):c.654C>T (p.Ser218=) http://identifiers.org/clinvar/239051 ^@ NM_001754.4(RUNX1):c.648C>T (p.Pro216=) http://identifiers.org/clinvar/239050 ^@ NM_001754.4(RUNX1):c.641C>T (p.Thr214Ile) http://identifiers.org/clinvar/239049 ^@ NM_001754.4(RUNX1):c.492C>T (p.Val164=) http://identifiers.org/clinvar/239047 ^@ NM_001754.4(RUNX1):c.303G>T (p.Val101=) http://identifiers.org/clinvar/239046 ^@ NM_001754.4(RUNX1):c.232A>T (p.Met78Leu) http://identifiers.org/clinvar/239045 ^@ NM_001754.4(RUNX1):c.167T>C (p.Leu56Ser) http://identifiers.org/clinvar/239044 ^@ NM_001754.4(RUNX1):c.155T>A (p.Met52Lys) http://identifiers.org/clinvar/239043 ^@ NM_001754.4(RUNX1):c.144C>T (p.Ser48=) http://identifiers.org/clinvar/239048 ^@ NM_001754.4(RUNX1):c.36G>A (p.Ser12=) http://identifiers.org/clinvar/239041 ^@ NM_001754.4(RUNX1):c.11A>G (p.Asp4Gly) http://identifiers.org/clinvar/241792 ^@ NM_080860.3(RSPH1):c.870G>A (p.Met290Ile) http://identifiers.org/clinvar/241791 ^@ NM_080860.3(RSPH1):c.733G>A (p.Gly245Arg) http://identifiers.org/clinvar/241790 ^@ NM_080860.3(RSPH1):c.730G>A (p.Ala244Thr) http://identifiers.org/clinvar/241789 ^@ NM_080860.3(RSPH1):c.670C>T (p.Leu224Phe) http://identifiers.org/clinvar/241788 ^@ NM_080860.3(RSPH1):c.650T>G (p.Leu217Trp) http://identifiers.org/clinvar/241787 ^@ NM_080860.3(RSPH1):c.637C>A (p.Gln213Lys) http://identifiers.org/clinvar/241786 ^@ NM_080860.3(RSPH1):c.636C>T (p.Thr212=) http://identifiers.org/clinvar/241785 ^@ NM_080860.3(RSPH1):c.501+7C>T http://identifiers.org/clinvar/241784 ^@ NM_080860.3(RSPH1):c.450C>T (p.Ala150=) http://identifiers.org/clinvar/241781 ^@ NM_080860.3(RSPH1):c.120C>T (p.Asn40=) http://identifiers.org/clinvar/236934 ^@ NM_000071.2(CBS):c.1272C>T (p.Thr424=) http://identifiers.org/clinvar/236939 ^@ NM_000071.2(CBS):c.894G>A (p.Gln298=) http://identifiers.org/clinvar/236938 ^@ NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA (p.Ile278Thrfs) http://identifiers.org/clinvar/236937 ^@ NM_000071.2(CBS):c.297C>G (p.Phe99Leu) http://identifiers.org/clinvar/236936 ^@ NM_000071.2(CBS):c.147G>A (p.Pro49=) http://identifiers.org/clinvar/236935 ^@ NM_000071.2(CBS):c.134G>A (p.Arg45Gln) http://identifiers.org/clinvar/239480 ^@ NM_003073.4(SMARCB1):c.-207-?_*338dup1703 http://identifiers.org/clinvar/239486 ^@ NM_003073.4(SMARCB1):c.987-?_*338dup510 http://identifiers.org/clinvar/240748 ^@ NM_007194.3(CHEK2):c.593-?_*154+?dup http://identifiers.org/clinvar/240744 ^@ NM_007194.3(CHEK2):c.320-?_*154+?dup http://identifiers.org/clinvar/237611 ^@ NM_000268.3(NF2):c.-443-?_*3798+?del http://identifiers.org/clinvar/240654 ^@ NM_006440.4(TXNRD2):c.1233C>T (p.Ser411=) http://identifiers.org/clinvar/240658 ^@ NM_006440.4(TXNRD2):c.933C>T (p.Thr311=) http://identifiers.org/clinvar/240657 ^@ NM_006440.4(TXNRD2):c.903C>A (p.Thr301=) http://identifiers.org/clinvar/240656 ^@ NM_006440.4(TXNRD2):c.850G>C (p.Val284Leu) http://identifiers.org/clinvar/240655 ^@ NM_006440.4(TXNRD2):c.656G>C (p.Gly219Ala) http://identifiers.org/clinvar/240653 ^@ NM_006440.4(TXNRD2):c.110A>T (p.Gln37Leu) http://identifiers.org/clinvar/240659 ^@ NM_006440.4(TXNRD2):c.96C>T (p.Gly32=) http://identifiers.org/clinvar/239482 ^@ NM_003073.4(SMARCB1):c.267C>T (p.Thr89=) http://identifiers.org/clinvar/239483 ^@ NM_003073.4(SMARCB1):c.362+7C>T http://identifiers.org/clinvar/239484 ^@ NM_003073.4(SMARCB1):c.438A>G (p.Pro146=) http://identifiers.org/clinvar/239485 ^@ NM_003073.4(SMARCB1):c.897G>T (p.Ser299=) http://identifiers.org/clinvar/239481 ^@ NM_003073.4(SMARCB1):c.*82C>T http://identifiers.org/clinvar/240739 ^@ NM_007194.3(CHEK2):c.1497G>A (p.Leu499=) http://identifiers.org/clinvar/240738 ^@ NM_007194.3(CHEK2):c.1374_1375invAG (p.Lys458Asnfs) http://identifiers.org/clinvar/240737 ^@ NM_007194.3(CHEK2):c.1317G>T (p.Gln439His) http://identifiers.org/clinvar/240736 ^@ NM_007194.3(CHEK2):c.1307T>G (p.Leu436Arg) http://identifiers.org/clinvar/240735 ^@ NM_007194.3(CHEK2):c.1269G>T (p.Gly423=) http://identifiers.org/clinvar/240731 ^@ NM_007194.3(CHEK2):c.1260-6delA http://identifiers.org/clinvar/240734 ^@ NM_007194.3(CHEK2):c.1240G>A (p.Gly414Arg) http://identifiers.org/clinvar/240733 ^@ NM_007194.3(CHEK2):c.1231T>G (p.Trp411Gly) http://identifiers.org/clinvar/240732 ^@ NM_007194.3(CHEK2):c.1204G>A (p.Ala402Thr) http://identifiers.org/clinvar/240730 ^@ NM_007194.3(CHEK2):c.1188delT (p.Val397Phefs) http://identifiers.org/clinvar/240729 ^@ NM_007194.3(CHEK2):c.1164C>T (p.Pro388=) http://identifiers.org/clinvar/240728 ^@ NM_007194.3(CHEK2):c.1100C>G (p.Thr367Ser) http://identifiers.org/clinvar/240727 ^@ NM_007194.3(CHEK2):c.1072C>T (p.Gln358Ter) http://identifiers.org/clinvar/240726 ^@ NM_007194.3(CHEK2):c.1043T>C (p.Leu348Ser) http://identifiers.org/clinvar/240725 ^@ NM_007194.3(CHEK2):c.1015C>T (p.His339Tyr) http://identifiers.org/clinvar/240760 ^@ NM_007194.3(CHEK2):c.892T>G (p.Tyr298Asp) http://identifiers.org/clinvar/240759 ^@ NM_007194.3(CHEK2):c.885_887delAGA (p.Glu295del) http://identifiers.org/clinvar/240758 ^@ NM_007194.3(CHEK2):c.847-1G>A http://identifiers.org/clinvar/240757 ^@ NM_007194.3(CHEK2):c.847-10C>G http://identifiers.org/clinvar/240756 ^@ NM_007194.3(CHEK2):c.827T>G (p.Ile276Ser) http://identifiers.org/clinvar/240755 ^@ NM_007194.3(CHEK2):c.793-3A>G http://identifiers.org/clinvar/240753 ^@ NM_007194.3(CHEK2):c.762G>T (p.Arg254Ser) http://identifiers.org/clinvar/240752 ^@ NM_007194.3(CHEK2):c.710C>T (p.Ala237Val) http://identifiers.org/clinvar/240751 ^@ NM_007194.3(CHEK2):c.683+1G>A http://identifiers.org/clinvar/240750 ^@ NM_007194.3(CHEK2):c.679G>A (p.Gly227Arg) http://identifiers.org/clinvar/240749 ^@ NM_007194.3(CHEK2):c.629C>T (p.Ser210Leu) http://identifiers.org/clinvar/240747 ^@ NM_007194.3(CHEK2):c.582C>T (p.Ser194=) http://identifiers.org/clinvar/240746 ^@ NM_007194.3(CHEK2):c.432T>C (p.Phe144=) http://identifiers.org/clinvar/240745 ^@ NM_007194.3(CHEK2):c.328A>G (p.Asn110Asp) http://identifiers.org/clinvar/240742 ^@ NM_007194.3(CHEK2):c.240T>G (p.Pro80=) http://identifiers.org/clinvar/240741 ^@ NM_007194.3(CHEK2):c.208G>T (p.Glu70Ter) http://identifiers.org/clinvar/240740 ^@ NM_007194.3(CHEK2):c.188T>C (p.Leu63Ser) http://identifiers.org/clinvar/240754 ^@ NM_007194.3(CHEK2):c.77C>A (p.Thr26Asn) http://identifiers.org/clinvar/240743 ^@ NM_007194.3(CHEK2):c.25G>A (p.Ala9Thr) http://identifiers.org/clinvar/237616 ^@ NM_000268.3(NF2):c.12C>T (p.Ala4=) http://identifiers.org/clinvar/237624 ^@ NM_000268.3(NF2):c.391A>C (p.Ile131Leu) http://identifiers.org/clinvar/237625 ^@ NM_000268.3(NF2):c.448-5T>C http://identifiers.org/clinvar/237626 ^@ NM_000268.3(NF2):c.613A>G (p.Met205Val) http://identifiers.org/clinvar/237612 ^@ NM_000268.3(NF2):c.1077G>A (p.Arg359=) http://identifiers.org/clinvar/237613 ^@ NM_000268.3(NF2):c.1113C>T (p.Asn371=) http://identifiers.org/clinvar/237614 ^@ NM_000268.3(NF2):c.1123-6C>T http://identifiers.org/clinvar/237615 ^@ NM_000268.3(NF2):c.1248G>A (p.Ala416=) http://identifiers.org/clinvar/237617 ^@ NM_000268.3(NF2):c.1340+8G>T http://identifiers.org/clinvar/237618 ^@ NM_000268.3(NF2):c.1385G>A (p.Arg462His) http://identifiers.org/clinvar/237619 ^@ NM_000268.3(NF2):c.1387G>A (p.Glu463Lys) http://identifiers.org/clinvar/237620 ^@ NM_000268.3(NF2):c.1446+6C>A http://identifiers.org/clinvar/237621 ^@ NM_000268.3(NF2):c.1627A>T (p.Lys543Ter) http://identifiers.org/clinvar/237622 ^@ NM_000268.3(NF2):c.1671T>C (p.Ala557=) http://identifiers.org/clinvar/237623 ^@ NM_000268.3(NF2):c.1685A>T (p.His562Leu) http://identifiers.org/clinvar/238680 ^@ NM_001242896.1(DEPDC5):c.332G>A (p.Arg111His) http://identifiers.org/clinvar/238672 ^@ NM_001242896.1(DEPDC5):c.1165C>T (p.Arg389Cys) http://identifiers.org/clinvar/238673 ^@ NM_001242896.1(DEPDC5):c.2020C>T (p.Arg674Cys) http://identifiers.org/clinvar/238674 ^@ NM_001242896.1(DEPDC5):c.2055C>A (p.Phe685Leu) http://identifiers.org/clinvar/238675 ^@ NM_001242896.1(DEPDC5):c.2350G>A (p.Asp784Asn) http://identifiers.org/clinvar/238676 ^@ NM_001242896.1(DEPDC5):c.2481G>A (p.Pro827=) http://identifiers.org/clinvar/238677 ^@ NM_001242896.1(DEPDC5):c.2742G>A (p.Glu914=) http://identifiers.org/clinvar/238678 ^@ NM_001242896.1(DEPDC5):c.3235A>G (p.Thr1079Ala) http://identifiers.org/clinvar/238679 ^@ NM_001242896.1(DEPDC5):c.3265-3C>T http://identifiers.org/clinvar/238681 ^@ NM_001242896.1(DEPDC5):c.3331-10del http://identifiers.org/clinvar/238682 ^@ NM_001242896.1(DEPDC5):c.4512C>T (p.His1504=) http://identifiers.org/clinvar/236554 ^@ NM_000026.3(ADSL):c.403-4G>A http://identifiers.org/clinvar/241419 ^@ NM_022098.3(XPNPEP3):c.1122C>T (p.Leu374=) http://identifiers.org/clinvar/239932 ^@ NM_004484.3(GPC3):c.-197-?_*379+?dup http://identifiers.org/clinvar/240860 ^@ NM_012282.3(KCNE5):c.-144-?_*892dup1465 http://identifiers.org/clinvar/239938 ^@ NM_004484.3(GPC3):c.1574-?_*379+?del http://identifiers.org/clinvar/239006 ^@ NM_001449.4(FHL1):c.157-?_*1334+?dup http://identifiers.org/clinvar/239544 ^@ NM_003611.2(OFD1):c.-359-?_*253+?dup http://identifiers.org/clinvar/239538 ^@ NM_003413.3(ZIC3):c.-505-?_*2030+?dup http://identifiers.org/clinvar/237012 ^@ NM_000117.2(EMD):c.-248-?_*326+?dup http://identifiers.org/clinvar/237680 ^@ NM_000328.2(RPGR):c.-168-?_*456+?dup http://identifiers.org/clinvar/241185 ^@ NM_017745.5(BCOR):c.-292-?_*863+?dup http://identifiers.org/clinvar/237123 ^@ NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) http://identifiers.org/clinvar/237124 ^@ NM_000169.2(GLA):c.640-11T>C http://identifiers.org/clinvar/239389 ^@ NM_002764.3(PRPS1):c.876C>T (p.Ile292=) http://identifiers.org/clinvar/240861 ^@ NM_012282.3(KCNE5):c.305A>C (p.Glu102Ala) http://identifiers.org/clinvar/238290 ^@ NM_001099922.2(ALG13):c.183C>T (p.Tyr61=) http://identifiers.org/clinvar/238289 ^@ NM_001099922.2(ALG13):c.1266T>C (p.Gly422=) http://identifiers.org/clinvar/238291 ^@ NM_001099922.2(ALG13):c.2213A>G (p.Glu738Gly) http://identifiers.org/clinvar/238292 ^@ NM_001099922.2(ALG13):c.2573A>G (p.Asn858Ser) http://identifiers.org/clinvar/238293 ^@ NM_001099922.2(ALG13):c.2672C>T (p.Ser891Phe) http://identifiers.org/clinvar/238294 ^@ NM_001099922.2(ALG13):c.2830_2835delCCTCCT (p.Pro944_Pro945del) http://identifiers.org/clinvar/238295 ^@ NM_001099922.2(ALG13):c.2833_2835delCCT (p.Pro945del) http://identifiers.org/clinvar/239118 ^@ NM_002294.2(LAMP2):c.504C>T (p.Tyr168=) http://identifiers.org/clinvar/239117 ^@ NM_002294.2(LAMP2):c.23C>T (p.Pro8Leu) http://identifiers.org/clinvar/239688 ^@ NM_004208.3(AIFM1):c.287A>G (p.Asn96Ser) http://identifiers.org/clinvar/239940 ^@ NM_004484.3(GPC3):c.1631C>T (p.Pro544Leu) http://identifiers.org/clinvar/239939 ^@ NM_004484.3(GPC3):c.1574-7_1574-4delTTGA http://identifiers.org/clinvar/239937 ^@ NM_004484.3(GPC3):c.1573+10T>A http://identifiers.org/clinvar/239936 ^@ NM_004484.3(GPC3):c.1275A>G (p.Gly425=) http://identifiers.org/clinvar/239935 ^@ NM_004484.3(GPC3):c.1232G>T (p.Ser411Ile) http://identifiers.org/clinvar/239934 ^@ NM_004484.3(GPC3):c.1167-8T>C http://identifiers.org/clinvar/239933 ^@ NM_004484.3(GPC3):c.1085A>G (p.Tyr362Cys) http://identifiers.org/clinvar/239948 ^@ NM_004484.3(GPC3):c.995A>G (p.Gln332Arg) http://identifiers.org/clinvar/239947 ^@ NM_004484.3(GPC3):c.972T>C (p.Phe324=) http://identifiers.org/clinvar/239946 ^@ NM_004484.3(GPC3):c.876T>C (p.Ile292=) http://identifiers.org/clinvar/239945 ^@ NM_004484.3(GPC3):c.660C>T (p.Ser220=) http://identifiers.org/clinvar/239944 ^@ NM_004484.3(GPC3):c.648G>C (p.Met216Ile) http://identifiers.org/clinvar/239943 ^@ NM_004484.3(GPC3):c.392A>G (p.Lys131Arg) http://identifiers.org/clinvar/239942 ^@ NM_004484.3(GPC3):c.175+9G>A http://identifiers.org/clinvar/239941 ^@ NM_004484.3(GPC3):c.172C>T (p.Pro58Ser) http://identifiers.org/clinvar/239005 ^@ NM_001449.4(FHL1):c.156+5C>T http://identifiers.org/clinvar/239007 ^@ NM_001449.4(FHL1):c.283C>T (p.Arg95Trp) http://identifiers.org/clinvar/239008 ^@ NM_001449.4(FHL1):c.388A>G (p.Ser130Gly) http://identifiers.org/clinvar/239009 ^@ NM_001449.4(FHL1):c.441C>T (p.Asp147=) http://identifiers.org/clinvar/239010 ^@ NM_001449.4(FHL1):c.486C>T (p.Cys162=) http://identifiers.org/clinvar/239012 ^@ NM_001449.4(FHL1):c.738C>T (p.His246=) http://identifiers.org/clinvar/239013 ^@ NM_001449.4(FHL1):c.823G>A (p.Asp275Asn) http://identifiers.org/clinvar/239539 ^@ NM_003413.3(ZIC3):c.912G>A (p.Arg304=) http://identifiers.org/clinvar/239545 ^@ NM_003611.2(OFD1):c.2044A>C (p.Ile682Leu) http://identifiers.org/clinvar/240195 ^@ NM_005629.3(SLC6A8):c.1494C>T (p.Tyr498=) http://identifiers.org/clinvar/237781 ^@ NM_000425.4(L1CAM):c.806+5G>A http://identifiers.org/clinvar/239024 ^@ NM_001456.3(FLNA):c.7370C>T (p.Thr2457Ile) http://identifiers.org/clinvar/239023 ^@ NM_001456.3(FLNA):c.7171G>A (p.Val2391Ile) http://identifiers.org/clinvar/239022 ^@ NM_001456.3(FLNA):c.6870G>C (p.Val2290=) http://identifiers.org/clinvar/239021 ^@ NM_001456.3(FLNA):c.5100C>T (p.Phe1700=) http://identifiers.org/clinvar/239020 ^@ NM_001456.3(FLNA):c.4659C>T (p.Pro1553=) http://identifiers.org/clinvar/239019 ^@ NM_001456.3(FLNA):c.3612G>A (p.Pro1204=) http://identifiers.org/clinvar/239018 ^@ NM_001456.3(FLNA):c.2744C>A (p.Thr915Asn) http://identifiers.org/clinvar/239017 ^@ NM_001456.3(FLNA):c.2466C>T (p.Ile822=) http://identifiers.org/clinvar/239016 ^@ NM_001456.3(FLNA):c.2405-4G>A http://identifiers.org/clinvar/239015 ^@ NM_001456.3(FLNA):c.1901G>A (p.Arg634His) http://identifiers.org/clinvar/239014 ^@ NM_001456.3(FLNA):c.1603G>A (p.Asp535Asn) http://identifiers.org/clinvar/237013 ^@ NM_000117.2(EMD):c.428C>T (p.Ser143Phe) http://identifiers.org/clinvar/237014 ^@ NM_000117.2(EMD):c.445G>C (p.Asp149His) http://identifiers.org/clinvar/237009 ^@ NM_000116.4(TAZ):c.227C>G (p.Pro76Arg) http://identifiers.org/clinvar/237010 ^@ NM_000116.4(TAZ):c.460+1G>A http://identifiers.org/clinvar/237011 ^@ NM_000116.4(TAZ):c.583G>A (p.Gly195Arg) http://identifiers.org/clinvar/238951 ^@ NM_001363.4(DKC1):c.1512_1514delGAA (p.Lys505del) http://identifiers.org/clinvar/239511 ^@ NM_003159.2(CDKL5):c.145+27_145+28delAT http://identifiers.org/clinvar/241851 ^@ NM_139058.2(ARX):c.776T>C (p.Leu259Pro) http://identifiers.org/clinvar/241850 ^@ NM_139058.2(ARX):c.453G>C (p.Ala151=) http://identifiers.org/clinvar/241849 ^@ NM_139058.2(ARX):c.148T>C (p.Leu50=) http://identifiers.org/clinvar/239597 ^@ NM_004006.2(DMD):c.10505A>T (p.Glu3502Val) http://identifiers.org/clinvar/239616 ^@ NM_004006.2(DMD):c.9790C>T (p.Arg3264Trp) http://identifiers.org/clinvar/239615 ^@ NM_004006.2(DMD):c.9580A>C (p.Ile3194Leu) http://identifiers.org/clinvar/239614 ^@ NM_004006.2(DMD):c.9486G>A (p.Glu3162=) http://identifiers.org/clinvar/239613 ^@ NM_004006.2(DMD):c.9325G>T (p.Ala3109Ser) http://identifiers.org/clinvar/239612 ^@ NM_004006.2(DMD):c.7781delA (p.Gln2594Argfs) http://identifiers.org/clinvar/239611 ^@ NM_004006.2(DMD):c.7321A>C (p.Thr2441Pro) http://identifiers.org/clinvar/239610 ^@ NM_004006.2(DMD):c.7200+9G>A http://identifiers.org/clinvar/239609 ^@ NM_004006.2(DMD):c.5801A>T (p.Glu1934Val) http://identifiers.org/clinvar/239608 ^@ NM_004006.2(DMD):c.5506C>T (p.Gln1836Ter) http://identifiers.org/clinvar/239607 ^@ NM_004006.2(DMD):c.5449-12_5449-10delGTT http://identifiers.org/clinvar/239606 ^@ NM_004006.2(DMD):c.4870C>T (p.Gln1624Ter) http://identifiers.org/clinvar/239605 ^@ NM_004006.2(DMD):c.4845+10A>G http://identifiers.org/clinvar/239604 ^@ NM_004006.2(DMD):c.3951G>A (p.Glu1317=) http://identifiers.org/clinvar/239603 ^@ NM_004006.2(DMD):c.2473T>G (p.Trp825Gly) http://identifiers.org/clinvar/239602 ^@ NM_004006.2(DMD):c.1813-3C>T http://identifiers.org/clinvar/239601 ^@ NM_004006.2(DMD):c.1705-1G>T http://identifiers.org/clinvar/239600 ^@ NM_004006.2(DMD):c.1603-4C>A http://identifiers.org/clinvar/239599 ^@ NM_004006.2(DMD):c.1504C>T (p.Gln502Ter) http://identifiers.org/clinvar/239598 ^@ NM_004006.2(DMD):c.1159A>G (p.Met387Val) http://identifiers.org/clinvar/237687 ^@ NM_000328.2(RPGR):c.2323A>G (p.Ile775Val) http://identifiers.org/clinvar/237683 ^@ NM_000328.2(RPGR):c.1905+1041_1905+1046delAGAGGA http://identifiers.org/clinvar/237686 ^@ NM_000328.2(RPGR):c.1905+701_1905+715delAAGAAGGGGAGGAAG http://identifiers.org/clinvar/237685 ^@ NM_001034853.1(RPGR):c.2541_2561del21 (p.Glu850_Gly856del) http://identifiers.org/clinvar/237684 ^@ NM_000328.2(RPGR):c.1905+594T>G http://identifiers.org/clinvar/237682 ^@ NM_000328.2(RPGR):c.1630A>G (p.Ser544Gly) http://identifiers.org/clinvar/237681 ^@ NM_000328.2(RPGR):c.155-10C>T http://identifiers.org/clinvar/241186 ^@ NM_017745.5(BCOR):c.3745+7G>C http://identifiers.org/clinvar/238267 ^@ NM_001042498.2(SLC35A2):c.747G>A (p.Gly249=) http://identifiers.org/clinvar/238266 ^@ NM_001042498.2(SLC35A2):c.12T>G (p.Val4=) http://identifiers.org/clinvar/240097 ^@ NM_005120.2(MED12):c.380C>T (p.Thr127Met) http://identifiers.org/clinvar/240095 ^@ NM_005120.2(MED12):c.2068A>G (p.Thr690Ala) http://identifiers.org/clinvar/240096 ^@ NM_005120.2(MED12):c.2220C>T (p.Ile740=) http://identifiers.org/clinvar/237122 ^@ NM_000166.5(GJB1):c.208C>G (p.Pro70Ala) http://identifiers.org/clinvar/240686 ^@ NM_006517.4(SLC16A2):c.265G>C (p.Ala89Pro) http://identifiers.org/clinvar/237852 ^@ NM_000489.4(ATRX):c.2785G>C (p.Glu929Gln) http://identifiers.org/clinvar/242273 ^@ NM_016824.4(ADD3):c.1100G>A (p.Gly367Asp) http://identifiers.org/clinvar/242274 ^@ NM_000261.1(MYOC):c.1111T>C (p.Tyr371His) http://identifiers.org/clinvar/242316 ^@ NM_003640.4(IKBKAP):c.3730T>G (p.Phe1244Val) http://identifiers.org/clinvar/242312 ^@ NM_002047.3(GARS):c.227A>G (p.Asp76Gly) http://identifiers.org/clinvar/242294 ^@ NM_003640.4(IKBKAP):c.3280A>G (p.Arg1094Gly) http://identifiers.org/clinvar/242310 ^@ NM_003640.4(IKBKAP):c.2948A>T (p.Gln983Leu) http://identifiers.org/clinvar/242293 ^@ NM_003640.4(IKBKAP):c.2825G>A (p.Arg942Gln) http://identifiers.org/clinvar/242315 ^@ NM_003640.4(IKBKAP):c.1364A>G (p.Asp455Gly) http://identifiers.org/clinvar/242309 ^@ NM_003640.4(IKBKAP):c.1144G>A (p.Gly382Arg) http://identifiers.org/clinvar/242314 ^@ NM_139241.3(FGD4):c.329T>C (p.Leu110Pro) http://identifiers.org/clinvar/242311 ^@ NM_000399.4(EGR2):c.1391G>T (p.Gly464Val) http://identifiers.org/clinvar/242301 ^@ NM_003978.4(PSTPIP1):c.236C>T (p.Ser79Phe) http://identifiers.org/clinvar/242306 ^@ NM_003978.4(PSTPIP1):c.1208G>A (p.Gly403Glu) http://identifiers.org/clinvar/242302 ^@ NM_003978.4(PSTPIP1):c.517_518delAG (p.Gln174Glufs) http://identifiers.org/clinvar/242307 ^@ NM_003978.4(PSTPIP1):c.1213C>T (p.Arg405Cys) http://identifiers.org/clinvar/242313 ^@ NM_003640.4(IKBKAP):c.470A>G (p.Lys157Arg) http://identifiers.org/clinvar/242300 ^@ NM_003978.4(PSTPIP1):c.82C>T (p.Arg28Trp) http://identifiers.org/clinvar/242305 ^@ NM_003978.4(PSTPIP1):c.1151A>G (p.Asp384Gly) http://identifiers.org/clinvar/242299 ^@ NM_003978.4(PSTPIP1):c.37T>G (p.Cys13Gly) http://identifiers.org/clinvar/242304 ^@ NM_003978.4(PSTPIP1):c.839C>T (p.Ala280Val) http://identifiers.org/clinvar/242275 ^@ NM_001972.3(ELANE):c.22G>A (p.Ala8Thr) http://identifiers.org/clinvar/242295 ^@ NM_001972.3(ELANE):c.137C>A (p.Ser46Tyr) http://identifiers.org/clinvar/242276 ^@ NM_001972.3(ELANE):c.23C>T (p.Ala8Val) http://identifiers.org/clinvar/242303 ^@ NM_001972.3(ELANE):c.258_269dupCCATAACCTCTC (p.Ser90_Arg91insHisAsnLeuSer) http://identifiers.org/clinvar/242278 ^@ NM_001972.3(ELANE):c.212G>T (p.Cys71Phe) http://identifiers.org/clinvar/242277 ^@ NM_001972.3(ELANE):c.77T>C (p.Leu26Pro) http://identifiers.org/clinvar/242290 ^@ NM_001972.3(ELANE):c.217G>A (p.Ala73Thr) http://identifiers.org/clinvar/242291 ^@ NM_001972.3(ELANE):c.427C>T (p.Arg143Cys) http://identifiers.org/clinvar/242281 ^@ NM_001972.3(ELANE):c.431G>A (p.Arg144His) http://identifiers.org/clinvar/242280 ^@ NM_001972.3(ELANE):c.407C>T (p.Ala136Val) http://identifiers.org/clinvar/242289 ^@ NM_001972.3(ELANE):c.140T>C (p.Leu47Pro) http://identifiers.org/clinvar/242279 ^@ NM_001972.3(ELANE):c.275G>A (p.Arg92Gln) http://identifiers.org/clinvar/242282 ^@ NM_001972.3(ELANE):c.437G>A (p.Gly146Asp) http://identifiers.org/clinvar/242285 ^@ NM_001972.3(ELANE):c.502G>A (p.Val168Ile) http://identifiers.org/clinvar/242284 ^@ NM_001972.3(ELANE):c.452G>T (p.Cys151Phe) http://identifiers.org/clinvar/242283 ^@ NM_001972.3(ELANE):c.442G>A (p.Gly148Arg) http://identifiers.org/clinvar/242296 ^@ NM_001972.3(ELANE):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/242286 ^@ NM_001972.3(ELANE):c.558C>A (p.Val186=) http://identifiers.org/clinvar/242292 ^@ NM_001972.3(ELANE):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/242308 ^@ NM_001972.3(ELANE):c.573G>C (p.Arg191Ser) http://identifiers.org/clinvar/242298 ^@ NM_001972.3(ELANE):c.605C>T (p.Ser202Phe) http://identifiers.org/clinvar/242288 ^@ NM_001972.3(ELANE):c.746C>T (p.Ser249Phe) http://identifiers.org/clinvar/242287 ^@ NM_001972.3(ELANE):c.597+1G>A http://identifiers.org/clinvar/242297 ^@ NM_001972.3(ELANE):c.336_359del24 (p.Asn113_Ile120del) http://identifiers.org/clinvar/242326 ^@ NM_020760.3(HECW2):c.4334A>G (p.Glu1445Gly) http://identifiers.org/clinvar/242322 ^@ NM_017934.6(PHIP):c.779delT (p.Leu260Trpfs) http://identifiers.org/clinvar/242323 ^@ NM_001008537.2(KIAA2022):c.652C>T (p.Arg218Ter) http://identifiers.org/clinvar/242317 ^@ NM_020760.3(HECW2):c.3572G>A (p.Arg1191Gln) http://identifiers.org/clinvar/242327 ^@ NM_001008537.2(KIAA2022):c.937C>T (p.Arg313Ter) http://identifiers.org/clinvar/242324 ^@ NM_020760.3(HECW2):c.3577T>G (p.Phe1193Val) http://identifiers.org/clinvar/242320 ^@ NM_001008537.2(KIAA2022):c.3053_3066delGCGATGATGATATC (p.Gly1018Aspfs) http://identifiers.org/clinvar/242319 ^@ NM_001008537.2(KIAA2022):c.422delA (p.Gln141Argfs) http://identifiers.org/clinvar/242318 ^@ NM_020760.3(HECW2):c.3988C>T (p.Arg1330Trp) http://identifiers.org/clinvar/242321 ^@ NM_017934.6(PHIP):c.50T>C (p.Phe17Ser) http://identifiers.org/clinvar/242325 ^@ NM_001008537.2(KIAA2022):c.625dupC (p.Leu209Profs) http://identifiers.org/clinvar/242328 ^@ NM_016239.3(MYO15A):c.742C>G (p.Arg248Gly) http://identifiers.org/clinvar/242329 ^@ NM_016239.3(MYO15A):c.3944G>A (p.Gly1315Glu) http://identifiers.org/clinvar/242330 ^@ NM_016239.3(MYO15A):c.4108C>T (p.Arg1370Cys) http://identifiers.org/clinvar/242331 ^@ NM_016239.3(MYO15A):c.4780G>C (p.Asp1594His) http://identifiers.org/clinvar/242332 ^@ NM_016239.3(MYO15A):c.5335delC (p.Leu1779Trpfs) http://identifiers.org/clinvar/242333 ^@ NM_016239.3(MYO15A):c.5809C>T (p.Arg1937Cys) http://identifiers.org/clinvar/242334 ^@ NM_016239.3(MYO15A):c.6146C>A (p.Pro2049His) http://identifiers.org/clinvar/242335 ^@ NM_016239.3(MYO15A):c.6178-2A>G http://identifiers.org/clinvar/242336 ^@ NM_016239.3(MYO15A):c.6589C>T (p.Gln2197Ter) http://identifiers.org/clinvar/242342 ^@ NM_033380.2(COL4A5):c.1690G>C (p.Gly564Arg) http://identifiers.org/clinvar/242346 ^@ NM_003361.3(UMOD):c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) http://identifiers.org/clinvar/242347 ^@ NM_007075.3(WDR45):c.614G>A (p.Gly205Asp) http://identifiers.org/clinvar/242348 ^@ NM_001256182.1(ANKRD11):c.6786delC (p.Ala2265Profs) http://identifiers.org/clinvar/242349 ^@ NM_004958.3(MTOR):c.6981G>A (p.Met2327Ile) http://identifiers.org/clinvar/242351 ^@ NM_014795.3(ZEB2):c.2672_2678delCCAAACC (p.Ala891Valfs) http://identifiers.org/clinvar/242356 ^@ NM_000391.3(TPP1):c.457_490del34 (p.Ser153Profs) http://identifiers.org/clinvar/242357 ^@ NM_000391.3(TPP1):c.471C>A (p.Tyr157Ter) http://identifiers.org/clinvar/242363 ^@ NM_153704.5(TMEM67):c.2241G>A (p.=) http://identifiers.org/clinvar/242358 ^@ NM_014425.4(INVS):c.1417delG (p.Ala473Glnfs) http://identifiers.org/clinvar/242360 ^@ NM_014425.4(INVS):c.2782C>T (p.Arg928Ter) http://identifiers.org/clinvar/242359 ^@ NM_014425.4(INVS):c.3125delA (p.Asn1042Thrfs) http://identifiers.org/clinvar/242362 ^@ NM_025114.3(CEP290):c.5707A>T (p.Glu1903Ter) http://identifiers.org/clinvar/242364 ^@ NM_032575.2(GLIS2):c.775+1G>T http://identifiers.org/clinvar/242361 ^@ 2q13 deletion (290 kb) http://identifiers.org/clinvar/242372 ^@ NM_152703.3(SAMD9L):c.2640C>A (p.His880Gln) http://identifiers.org/clinvar/242373 ^@ NM_152703.3(SAMD9L):c.3587G>C (p.Cys1196Ser) http://identifiers.org/clinvar/242374 ^@ NM_134425.2(SLC26A1):c.554C>T (p.Thr185Met) http://identifiers.org/clinvar/242375 ^@ NM_022042.3(SLC26A1):c.1073C>T (p.Ser358Leu) http://identifiers.org/clinvar/242376 ^@ NM_134425.2(SLC26A1):c.166G>A (p.Ala56Thr) http://identifiers.org/clinvar/242379 ^@ NM_144997.5(FLCN):c.1323delCinsGA (p.His442Thrfs) http://identifiers.org/clinvar/242830 ^@ NM_000806.5(GABRA1):c.1200delC (p.Lys401Serfs) http://identifiers.org/clinvar/242831 ^@ NM_004004.5(GJB2):c.66G>T (p.Lys22Asn) http://identifiers.org/clinvar/242835 ^@ NG_016270.1:g.15768A>T http://identifiers.org/clinvar/242836 ^@ NP_000751.1:p.Trp547Ter http://identifiers.org/clinvar/242837 ^@ NG_051105.1:g.97864G>A http://identifiers.org/clinvar/242838 ^@ NM_000902.3(MME):c.661C>T (p.Gln221Ter) http://identifiers.org/clinvar/242839 ^@ NM_000902.3(MME):c.1861T>C (p.Cys621Arg) http://identifiers.org/clinvar/242840 ^@ NG_051105.1:g.97438T>A http://identifiers.org/clinvar/242841 ^@ NG_051105.1:g.99621A>G http://identifiers.org/clinvar/242842 ^@ NC_000001.10:g.(?_41343608)_(43121507_?)del http://identifiers.org/clinvar/242843 ^@ NC_000010.10:g.(?_107371918)_(107854441_?)dup http://identifiers.org/clinvar/242844 ^@ NC_000001.10:g.(?_107538505)_(108235719_?)dup http://identifiers.org/clinvar/242845 ^@ NC_000017.10:g.(?_62018758)_(62067133_?)dup http://identifiers.org/clinvar/242846 ^@ NC_000023.10:g.(?_892049)_(1425973_?)dup http://identifiers.org/clinvar/242847 ^@ NC_000016.9:g.(?_44565757)_(44895960_?)dup http://identifiers.org/clinvar/242848 ^@ NC_000017.10:g.(?_83920497)_(84062405_?)del http://identifiers.org/clinvar/242849 ^@ NC_000002.11:g.(?_44519680)_(44543829_?)dup http://identifiers.org/clinvar/242850 ^@ NC_000013.10:g.(?_90644219)_(92557099_?)del http://identifiers.org/clinvar/242851 ^@ NC_000004.11:g.(?_188498590)_(190915650_?)del http://identifiers.org/clinvar/242852 ^@ NC_000005.9:g.(?_25328)_(19661628_?)dup http://identifiers.org/clinvar/242853 ^@ NC_000004.11:g.(?_164465746)_(164905719_?)dup http://identifiers.org/clinvar/242854 ^@ NM_024105.3(ALG12):c.1001delA (p.Asn334Thrfs) http://identifiers.org/clinvar/242855 ^@ NM_024105.3(ALG12):c.117delG (p.Gln40Argfs) http://identifiers.org/clinvar/242856 ^@ NM_002518.3(NPAS2):c.1363C>G (p.Pro455Ala) http://identifiers.org/clinvar/242857 ^@ NM_018076.4(ARMC4):c.2495+1G>A http://identifiers.org/clinvar/242859 ^@ NM_018076.4(ARMC4):c.2219G>A (p.Trp740Ter) http://identifiers.org/clinvar/242860 ^@ NM_018076.4(ARMC4):c.2014G>T (p.Glu672Ter) http://identifiers.org/clinvar/242858 ^@ NM_018076.4(ARMC4):c.1969C>T (p.Gln657Ter) http://identifiers.org/clinvar/242861 ^@ NC_000023.9:g.(?_152730000)_(153020000_?)dup http://identifiers.org/clinvar/242862 ^@ NC_000023.9:g.(?_139330000)_(154580000_?)dup http://identifiers.org/clinvar/242865 ^@ NM_020732.3(ARID1B):c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) http://identifiers.org/clinvar/242864 ^@ NM_020732.3(ARID1B):c.3208_3209delAA (p.Lys1070Alafs) http://identifiers.org/clinvar/242866 ^@ NM_020732.3(ARID1B):c.4273dupT (p.Tyr1425Leufs) http://identifiers.org/clinvar/242863 ^@ NC_000006.11:g.(?_157099064)_(158366109_?)del http://identifiers.org/clinvar/242867 ^@ NM_020732.3(ARID1B):c.2941C>T (p.Gln981Ter) http://identifiers.org/clinvar/264675 ^@ NC_000002.11:g.(130939272_131096872)_(131116671_?)del http://identifiers.org/clinvar/242902 ^@ NM_002437.4(MPV17):c.106C>T (p.Gln36Ter) http://identifiers.org/clinvar/242903 ^@ NM_006432.3(NPC2):c.82+2T>C http://identifiers.org/clinvar/264674 ^@ NM_000404.3(GLB1):c.75+5G>C http://identifiers.org/clinvar/264673 ^@ NM_000404.3(GLB1):c.276G>A (p.Trp92Ter) http://identifiers.org/clinvar/242905 ^@ NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) http://identifiers.org/clinvar/242906 ^@ NM_004387.3(NKX2-5):c.751delA (p.Asn251Thrfs) http://identifiers.org/clinvar/242915 ^@ NM_001148.4(ANK2):c.6398C>T (p.Ser2133Phe) http://identifiers.org/clinvar/242918 ^@ NM_006772.2(SYNGAP1):c.2578_2579delGT (p.Val860Phefs) http://identifiers.org/clinvar/242914 ^@ NM_172058.3(EYA1):c.121G>C (p.Glu41Gln) http://identifiers.org/clinvar/242907 ^@ NM_001005373.3(LRSAM1):c.2068T>C (p.Cys690Arg) http://identifiers.org/clinvar/242909 ^@ NM_001197104.1(KMT2A):c.2633G>A (p.Arg878Gln) http://identifiers.org/clinvar/242910 ^@ NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter) http://identifiers.org/clinvar/242912 ^@ NM_001018008.1(TPM1):c.304G>A (p.Glu102Lys) http://identifiers.org/clinvar/242916 ^@ NM_001134407.2(GRIN2A):c.1273delC (p.Leu425Terfs) http://identifiers.org/clinvar/242913 ^@ NM_001243036.1(SLC7A9):c.1225-4678_1324del http://identifiers.org/clinvar/242923 ^@ NC_000006.12:g.146414070_146715778del301709 http://identifiers.org/clinvar/242924 ^@ NM_015359.4(SLC39A14):c.292T>G (p.Phe98Val) http://identifiers.org/clinvar/242925 ^@ NM_015359.4(SLC39A14):c.313G>T (p.Glu105Ter) http://identifiers.org/clinvar/242926 ^@ NM_015359.4(SLC39A14):c.477_478delCA (p.Ser160Cysfs) http://identifiers.org/clinvar/242927 ^@ NM_015359.4(SLC39A14):c.1147G>A (p.Gly383Arg) http://identifiers.org/clinvar/242928 ^@ NM_015359.4(SLC39A14):c.1407C>G (p.Asn469Lys) http://identifiers.org/clinvar/242929 ^@ NM_033116.5(NEK9):c.1489C>T (p.Arg497Ter) http://identifiers.org/clinvar/242930 ^@ NM_033116.5(NEK9):c.2042G>A (p.Arg681His) http://identifiers.org/clinvar/242931 ^@ NM_015368.3(PANX1):c.650G>A (p.Arg217His) http://identifiers.org/clinvar/242932 ^@ NM_021831.5(AGBL5):c.883G>A (p.Asp295Asn) http://identifiers.org/clinvar/242933 ^@ NM_021831.5(AGBL5):c.826C>T (p.Arg276Trp) http://identifiers.org/clinvar/242934 ^@ NM_181534.3(KRT25):c.712G>T (p.Val238Leu) http://identifiers.org/clinvar/242948 ^@ NM_148898.3(FOXP2):c.570_581dupACAACAGCAGCA (p.Gln216_His217insGlnGlnGlnGln) http://identifiers.org/clinvar/242949 ^@ NM_014491.3(FOXP2):c.1168_1169delCA (p.Gln390ValfsTer7) http://identifiers.org/clinvar/242952 ^@ NM_014491.3(FOXP2):c.1789A>C (p.Asn597His) http://identifiers.org/clinvar/242953 ^@ t(3;7)(q23;q31.2) http://identifiers.org/clinvar/242954 ^@ t(5;7)(q22;q31.2) http://identifiers.org/clinvar/242955 ^@ t(7;13)(q31.1;q13.2) http://identifiers.org/clinvar/242956 ^@ NC_000007.13:g.109049659_111130658del2081000 http://identifiers.org/clinvar/242957 ^@ NC_000007.12:g.111781517_120142536del http://identifiers.org/clinvar/242958 ^@ 7q31.1-q31.2, 6.5 Mb deletion http://identifiers.org/clinvar/242959 ^@ 7q31.1-q31.3, 14.8 Mb deletion http://identifiers.org/clinvar/242960 ^@ 7q31.1-q31.2, 1.57 Mb deletion http://identifiers.org/clinvar/242961 ^@ 7q31.1-q31.2, 9.1 Mb deletion http://identifiers.org/clinvar/242962 ^@ 7q31.1-q31.3, 16 Mb deletion http://identifiers.org/clinvar/242963 ^@ 7q31.1-q31.3, 11 Mb deletion http://identifiers.org/clinvar/242964 ^@ 7q31.1-q31.3, 15 Mb deletion http://identifiers.org/clinvar/242965 ^@ NC_000007.12:g.112946520_114520576del http://identifiers.org/clinvar/242966 ^@ 7q31.2-q32, 13 Mb deletion http://identifiers.org/clinvar/242967 ^@ 7q31.2-q32, 14 Mb deletion http://identifiers.org/clinvar/242968 ^@ 7q31.2-q32, 15 Mb deletion http://identifiers.org/clinvar/242969 ^@ 7q31.2-q32, 26 Mb deletion http://identifiers.org/clinvar/242970 ^@ 7q22-q31.3 deletion (15 Mb) http://identifiers.org/clinvar/242971 ^@ 7q22-q31.33, 22 Mb deletion http://identifiers.org/clinvar/242972 ^@ NC_000007.13:g.(20954043_21001537)_(114528369_114556605) http://identifiers.org/clinvar/242973 ^@ Uniparental disomy of chromosome 7 http://identifiers.org/clinvar/242975 ^@ NM_014491.3(FOXP2):c.1591T>C (p.Tyr531His) http://identifiers.org/clinvar/242976 ^@ NM_001256182.1(ANKRD11):c.6015dupA (p.Gly2006Argfs) http://identifiers.org/clinvar/242977 ^@ NM_001040142.1(SCN2A):c.1154delT (p.Phe385Serfs) http://identifiers.org/clinvar/242978 ^@ NC_000006.11:g.255350_3189972dup http://identifiers.org/clinvar/242984 ^@ NM_002075.3(GNB3):c.1017G>A (p.Trp339Ter) http://identifiers.org/clinvar/242985 ^@ NM_002075.3(GNB3):c.170_172delAGA (p.Lys57del) http://identifiers.org/clinvar/242986 ^@ NM_002075.3(GNB3):c.200C>T (p.Ser67Phe) http://identifiers.org/clinvar/264672 ^@ NM_033116.5(NEK9):c.1715G>T (p.Gly572Val) http://identifiers.org/clinvar/242988 ^@ NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr) http://identifiers.org/clinvar/242989 ^@ NM_145698.4(ACBD5):c.1204+1G>A http://identifiers.org/clinvar/242990 ^@ NM_001136536.4(DTHD1):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/242994 ^@ NM_004172.4(SLC1A3):c.1496G>A (p.Arg499Gln) http://identifiers.org/clinvar/242995 ^@ NM_003014.3(SFRP4):c.499dupG http://identifiers.org/clinvar/242996 ^@ NM_003014.3(SFRP4):c.694C>T http://identifiers.org/clinvar/242997 ^@ NM_003014.3(SFRP4):c.481_487delGTACAGG http://identifiers.org/clinvar/242998 ^@ CACNA1H, MET1549VAL http://identifiers.org/clinvar/243000 ^@ NM_052965.3(TSEN15):c.455A>G (p.Tyr152Cys) http://identifiers.org/clinvar/243001 ^@ NM_052965.3(TSEN15):c.346C>T (p.His116Tyr) http://identifiers.org/clinvar/243002 ^@ NM_033116.5(NEK9):c.500T>C (p.Ile167Thr) http://identifiers.org/clinvar/243003 ^@ NM_001002261.3(ZFYVE27):c.805-2A>G http://identifiers.org/clinvar/264671 ^@ NM_001127511.2(APC):c.-125delA http://identifiers.org/clinvar/243005 ^@ NM_001127511.2(APC):c.-191T>C http://identifiers.org/clinvar/243006 ^@ NM_001127511.2(APC):c.-192A>G http://identifiers.org/clinvar/243007 ^@ NM_001127511.2(APC):c.-192A>T http://identifiers.org/clinvar/243008 ^@ NM_001127511.2(APC):c.-190G>A http://identifiers.org/clinvar/243009 ^@ NM_021951.2(DMRT1):c.671A>G (p.Asn224Ser) http://identifiers.org/clinvar/243010 ^@ NM_003922.3(HERC1):c.2625G>A (p.Trp875Ter) http://identifiers.org/clinvar/243011 ^@ NM_003922.3(HERC1):c.13559G>A (p.Gly4520Glu) http://identifiers.org/clinvar/243014 ^@ NM_001009923.1(TMEM230):c.422G>T (p.Arg141Leu) http://identifiers.org/clinvar/243015 ^@ NM_000359.2(TGM1):c.910A>T (p.Ile304Phe) http://identifiers.org/clinvar/264670 ^@ NM_001127511.2(APC):c.-195A>C http://identifiers.org/clinvar/243018 ^@ NM_003221.3(TFAP2B):c.541-2A>T http://identifiers.org/clinvar/243019 ^@ NM_003221.3(TFAP2B):c.439_442delCCGG (p.Pro147Thrfs) http://identifiers.org/clinvar/243022 ^@ NM_001161563.2(TNIK):c.538C>T (p.Arg180Ter) http://identifiers.org/clinvar/243025 ^@ NM_152328.4(ADSSL1):c.781G>A (p.Asp261Asn) http://identifiers.org/clinvar/243026 ^@ NM_152328.4(ADSSL1):c.919delA (p.Ile307Serfs) http://identifiers.org/clinvar/243036 ^@ NM_198576.3(AGRN):c.226G>A (p.Gly76Ser) http://identifiers.org/clinvar/243037 ^@ NM_198576.3(AGRN):c.314A>T (p.Asn105Ile) http://identifiers.org/clinvar/243038 ^@ NM_198576.3(AGRN):c.1362dupC (p.Ser455GlnfsTer8) http://identifiers.org/clinvar/243039 ^@ NM_198576.3(AGRN):c.5023G>A (p.Gly1675Ser) http://identifiers.org/clinvar/243040 ^@ NM_198576.3(AGRN):c.5611G>A (p.Gly1871Arg) http://identifiers.org/clinvar/243032 ^@ NM_000080.3(CHRNE):c.1353dupG (p.Asn452GlufsTer4) http://identifiers.org/clinvar/243031 ^@ NM_000080.3(CHRNE):c.1327delG (p.Glu443LysfsTer64) http://identifiers.org/clinvar/243030 ^@ NM_000080.3(CHRNE):c.130dupG (p.Glu44GlyfsTer3) http://identifiers.org/clinvar/243042 ^@ NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) http://identifiers.org/clinvar/243033 ^@ NG_008029.2:g.4107_5396del1290insCGCATCCAGA http://identifiers.org/clinvar/243041 ^@ 1p36.33 deletion (0.48 Mb) http://identifiers.org/clinvar/243043 ^@ POLA1, IVS13, A-G http://identifiers.org/clinvar/243047 ^@ MAFB, 600-KB DEL http://identifiers.org/clinvar/243049 ^@ NM_001136239.1(PRDM6):c.1646G>A (p.Arg549Gln) http://identifiers.org/clinvar/243050 ^@ NM_001136239.1(PRDM6):c.788G>C (p.Cys263Ser) http://identifiers.org/clinvar/243051 ^@ NM_001136239.1(PRDM6):c.1385A>G (p.Gln462Arg) http://identifiers.org/clinvar/243054 ^@ NM_004608.3(TBX6):c.1169dupC (p.His391Alafs) http://identifiers.org/clinvar/243053 ^@ NM_004608.3(TBX6):c.704dupG (p.Met236Hisfs) http://identifiers.org/clinvar/243052 ^@ NC_000016.9:g.(?_29651599)_(30199709_?)del http://identifiers.org/clinvar/243057 ^@ NM_001127660.1(MFN2):c.730G>T (p.Val244Leu) http://identifiers.org/clinvar/243056 ^@ NC_000012.11:g.42870202_42899456del29255 http://identifiers.org/clinvar/243058 ^@ NC_000001.10:g.161275598_161279773dup4176 http://identifiers.org/clinvar/243059 ^@ NC_000009.11:g.34280042_34296294del16253 http://identifiers.org/clinvar/243060 ^@ NC_000001.10:g.161279434_161299373del19940 http://identifiers.org/clinvar/243061 ^@ NC_000017.10:g.17711738_217748468del200036731 http://identifiers.org/clinvar/243062 ^@ NC_000001.10:g.242263612_244559673del2296062 http://identifiers.org/clinvar/243063 ^@ NC_000002.11:g.(?_228230759)_(228234864_?)del http://identifiers.org/clinvar/243064 ^@ NM_001010909.3(MUC21):c.665delC (p.Ala222Valfs) http://identifiers.org/clinvar/243065 ^@ NC_000023.10:g.135601430_136192229dup590800 http://identifiers.org/clinvar/243073 ^@ NM_001127660.1(MFN2):c.479T>G (p.Val160Gly) http://identifiers.org/clinvar/243074 ^@ NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) http://identifiers.org/clinvar/243066 ^@ NM_001127660.1(MFN2):c.730G>A (p.Val244Met) http://identifiers.org/clinvar/243067 ^@ NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro) http://identifiers.org/clinvar/243071 ^@ NM_003680.3(YARS):c.586G>C (p.Glu196Gln) http://identifiers.org/clinvar/243085 ^@ NM_001039550.1(DNAJB2):c.309delC (p.Arg104Glyfs) http://identifiers.org/clinvar/243076 ^@ NM_001099952.2(ITPR1):c.7640G>C (p.Gly2547Ala) http://identifiers.org/clinvar/243083 ^@ NM_001142415.1(AIMP1):c.334C>T (p.Gln112Ter) http://identifiers.org/clinvar/243075 ^@ NM_015271.4(TRIM2):c.2000A>C (p.Asp667Ala) http://identifiers.org/clinvar/243068 ^@ NM_024577.3(SH3TC2):c.820_821insT (p.Lys274Ilefs) http://identifiers.org/clinvar/243070 ^@ NM_022455.4(NSD1):c.6534dupC (p.Ser2180Glnfs) http://identifiers.org/clinvar/243087 ^@ NM_002677.4(PMP2):c.128T>A (p.Ile43Asn) http://identifiers.org/clinvar/243082 ^@ NM_015046.5(SETX):c.6322C>T (p.Gln2108Ter) http://identifiers.org/clinvar/243077 ^@ NM_003172.3(SURF1):c.586C>T (p.Gln196Ter) http://identifiers.org/clinvar/243086 ^@ NM_001135005.2(DNAJB5):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/243080 ^@ NM_002180.2(IGHMBP2):c.1193C>A (p.Ala398Glu) http://identifiers.org/clinvar/243079 ^@ NM_002180.2(IGHMBP2):c.1346delT (p.Met449Serfs) http://identifiers.org/clinvar/243078 ^@ NM_015270.4(ADCY6):c.2975A>G (p.Tyr992Cys) http://identifiers.org/clinvar/243088 ^@ NM_018327.2(SPTLC3):c.448T>C (p.Trp150Arg) http://identifiers.org/clinvar/243069 ^@ NM_145812.2(AIFM1):c.1376G>T (p.Arg459Ile) http://identifiers.org/clinvar/243072 ^@ NM_000166.5(GJB1):c.-16-2A>G http://identifiers.org/clinvar/243081 ^@ NC_000020.10:g.25364310_25378180del13871 http://identifiers.org/clinvar/243089 ^@ NM_000530.7(MPZ):c.403A>C (p.Ile135Leu) http://identifiers.org/clinvar/243090 ^@ NM_001711.5(BGN):c.439A>G (p.Lys147Glu) http://identifiers.org/clinvar/243091 ^@ NM_001711.5(BGN):c.776G>T (p.Gly259Val) http://identifiers.org/clinvar/243092 ^@ NM_001135055.2(TKT):c.769_770ins18 (p.?) http://identifiers.org/clinvar/243096 ^@ NM_005690.4(DNM1L):c.1337G>T (p.Cys446Phe) http://identifiers.org/clinvar/243097 ^@ NM_000833.4(GRIN2A):c.1928C>A (p.Ala643Asp) http://identifiers.org/clinvar/264669 ^@ NM_024769.3(CLMP):c.410G>A (p.Cys137Tyr) http://identifiers.org/clinvar/264668 ^@ NM_024769.3(CLMP):c.29-2A>G http://identifiers.org/clinvar/246559 ^@ NM_002506.2(NGF):c.562G>A (p.Gly188Arg) http://identifiers.org/clinvar/245874 ^@ NM_002506.2(NGF):c.284G>A (p.Arg95His) http://identifiers.org/clinvar/245650 ^@ NM_002506.2(NGF):c.247C>T (p.Arg83Cys) http://identifiers.org/clinvar/245866 ^@ NM_014874.3(MFN2):c.-150+4A>T http://identifiers.org/clinvar/246508 ^@ NM_014874.3(MFN2):c.179C>T (p.Thr60Met) http://identifiers.org/clinvar/246494 ^@ NM_014874.3(MFN2):c.572T>C (p.Leu191Pro) http://identifiers.org/clinvar/245744 ^@ NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) http://identifiers.org/clinvar/245943 ^@ NM_014874.3(MFN2):c.659C>T (p.Ala220Val) http://identifiers.org/clinvar/246335 ^@ NM_014874.3(MFN2):c.703C>G (p.Gln235Glu) http://identifiers.org/clinvar/245743 ^@ NM_014874.3(MFN2):c.721T>G (p.Phe241Val) http://identifiers.org/clinvar/246495 ^@ NM_014874.3(MFN2):c.809T>C (p.Met270Thr) http://identifiers.org/clinvar/245809 ^@ NM_014874.3(MFN2):c.838C>T (p.Arg280Cys) http://identifiers.org/clinvar/246245 ^@ NM_014874.3(MFN2):c.1084A>C (p.Thr362Pro) http://identifiers.org/clinvar/245944 ^@ NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln) http://identifiers.org/clinvar/245900 ^@ NM_014874.3(MFN2):c.1150C>T (p.Arg384Trp) http://identifiers.org/clinvar/246378 ^@ NM_014874.3(MFN2):c.1174G>A (p.Glu392Lys) http://identifiers.org/clinvar/245768 ^@ NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) http://identifiers.org/clinvar/246483 ^@ NM_014874.3(MFN2):c.1339G>A (p.Asp447Asn) http://identifiers.org/clinvar/245785 ^@ NM_014874.3(MFN2):c.1442G>A (p.Arg481His) http://identifiers.org/clinvar/246602 ^@ NM_014874.3(MFN2):c.1729A>G (p.Ile577Val) http://identifiers.org/clinvar/245912 ^@ NM_014874.3(MFN2):c.1894C>T (p.Arg632Trp) http://identifiers.org/clinvar/245710 ^@ NM_014874.3(MFN2):c.2060A>G (p.Gln687Arg) http://identifiers.org/clinvar/245784 ^@ NM_014874.3(MFN2):c.2108T>C (p.Val703Ala) http://identifiers.org/clinvar/246039 ^@ NM_014874.3(MFN2):c.2240T>G (p.Met747Arg) http://identifiers.org/clinvar/245838 ^@ NM_170707.3(LMNA):c.3G>C (p.Met1Ile) http://identifiers.org/clinvar/245817 ^@ NM_170707.3(LMNA):c.74G>T (p.Arg25Leu) http://identifiers.org/clinvar/246300 ^@ NM_170707.3(LMNA):c.145G>C (p.Val49Leu) http://identifiers.org/clinvar/245899 ^@ NM_170707.3(LMNA):c.161C>T (p.Thr54Met) http://identifiers.org/clinvar/245757 ^@ NM_170707.3(LMNA):c.162_163delGG (p.Asn56Argfs) http://identifiers.org/clinvar/245850 ^@ NM_170707.3(LMNA):c.224C>T (p.Ser75Phe) http://identifiers.org/clinvar/246580 ^@ NM_170707.3(LMNA):c.242A>G (p.Tyr81Cys) http://identifiers.org/clinvar/246579 ^@ NM_170707.3(LMNA):c.357-4406A>G http://identifiers.org/clinvar/245737 ^@ NM_170707.3(LMNA):c.408C>A (p.Asp136Glu) http://identifiers.org/clinvar/246539 ^@ NM_170707.3(LMNA):c.410T>C (p.Leu137Pro) http://identifiers.org/clinvar/245752 ^@ NM_170707.3(LMNA):c.443T>C (p.Leu148Pro) http://identifiers.org/clinvar/245861 ^@ NM_170707.3(LMNA):c.470C>G (p.Thr157Arg) http://identifiers.org/clinvar/246472 ^@ NM_170707.3(LMNA):c.504G>C (p.Gln168His) http://identifiers.org/clinvar/245721 ^@ NM_170707.3(LMNA):c.513+1G>A http://identifiers.org/clinvar/245677 ^@ NM_170707.3(LMNA):c.571G>A (p.Val191Met) http://identifiers.org/clinvar/245729 ^@ NM_170707.3(LMNA):c.808A>C (p.Lys270Gln) http://identifiers.org/clinvar/245950 ^@ NM_170707.3(LMNA):c.917T>C (p.Leu306Pro) http://identifiers.org/clinvar/245682 ^@ NM_170707.3(LMNA):c.991C>T (p.Arg331Trp) http://identifiers.org/clinvar/246074 ^@ NM_170707.3(LMNA):c.1004G>A (p.Arg335Gln) http://identifiers.org/clinvar/245948 ^@ NM_170707.3(LMNA):c.1081G>C (p.Glu361Gln) http://identifiers.org/clinvar/246226 ^@ NM_170707.3(LMNA):c.1123G>A (p.Ala375Thr) http://identifiers.org/clinvar/245715 ^@ NM_170707.3(LMNA):c.1150delG (p.Glu384Argfs) http://identifiers.org/clinvar/246075 ^@ NM_170707.3(LMNA):c.1157+1G>T http://identifiers.org/clinvar/245758 ^@ NM_170707.3(LMNA):c.1158G>C (p.Arg386Ser) http://identifiers.org/clinvar/245759 ^@ NM_170707.3(LMNA):c.1160T>C (p.Leu387Pro) http://identifiers.org/clinvar/245780 ^@ NM_170707.3(LMNA):c.1280G>A (p.Arg427His) http://identifiers.org/clinvar/245964 ^@ NM_170707.3(LMNA):c.1487C>T (p.Thr496Met) http://identifiers.org/clinvar/246076 ^@ NM_170707.3(LMNA):c.1489-2A>G http://identifiers.org/clinvar/246227 ^@ NM_170707.3(LMNA):c.1529C>T (p.Thr510Ile) http://identifiers.org/clinvar/246077 ^@ NM_170707.3(LMNA):c.1540T>C (p.Trp514Arg) http://identifiers.org/clinvar/245726 ^@ NM_170707.3(LMNA):c.1609-8C>G http://identifiers.org/clinvar/245882 ^@ NM_170707.3(LMNA):c.1844C>G (p.Ser615Cys) http://identifiers.org/clinvar/246274 ^@ NM_170707.3(LMNA):c.1900G>A (p.Gly634Ser) http://identifiers.org/clinvar/245639 ^@ NM_170707.3(LMNA):c.1978A>G (p.Asn660Asp) http://identifiers.org/clinvar/246178 ^@ NM_170707.3(LMNA):c.*672T>C http://identifiers.org/clinvar/246137 ^@ NM_001012331.1(NTRK1):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/245924 ^@ NM_001012331.1(NTRK1):c.470G>A (p.Arg157His) http://identifiers.org/clinvar/246246 ^@ NM_001012331.1(NTRK1):c.505G>A (p.Gly169Arg) http://identifiers.org/clinvar/245651 ^@ NM_001012331.1(NTRK1):c.526C>T (p.Gln176Ter) http://identifiers.org/clinvar/245727 ^@ NM_001012331.1(NTRK1):c.560C>T (p.Pro187Leu) http://identifiers.org/clinvar/245652 ^@ NM_001012331.1(NTRK1):c.865C>A (p.Gln289Lys) http://identifiers.org/clinvar/245994 ^@ NM_001012331.1(NTRK1):c.940C>T (p.Arg314Cys) http://identifiers.org/clinvar/245653 ^@ NM_001012331.1(NTRK1):c.1426A>T (p.Lys476Ter) http://identifiers.org/clinvar/246572 ^@ NM_000530.7(MPZ):c.637G>C (p.Gly213Arg) http://identifiers.org/clinvar/246180 ^@ NM_000530.7(MPZ):c.595A>G (p.Lys199Glu) http://identifiers.org/clinvar/246029 ^@ NM_000530.7(MPZ):c.584+2T>G http://identifiers.org/clinvar/245975 ^@ NM_000530.7(MPZ):c.464G>T (p.Gly155Val) http://identifiers.org/clinvar/245997 ^@ NM_000530.7(MPZ):c.356A>G (p.Tyr119Cys) http://identifiers.org/clinvar/246121 ^@ NM_000530.7(MPZ):c.188_190delCCT (p.Ser63del) http://identifiers.org/clinvar/246527 ^@ NM_000530.7(MPZ):c.176C>T (p.Ser59Leu) http://identifiers.org/clinvar/246122 ^@ NM_000530.7(MPZ):c.129_136delCTCCCGGG (p.Ser44Aspfs) http://identifiers.org/clinvar/246524 ^@ NM_000530.7(MPZ):c.133C>T (p.Arg45Trp) http://identifiers.org/clinvar/245593 ^@ NM_004895.4(NLRP3):c.214G>A (p.Val72Met) http://identifiers.org/clinvar/245594 ^@ NM_004895.4(NLRP3):c.795C>T (p.Ser265=) http://identifiers.org/clinvar/246296 ^@ NM_004895.4(NLRP3):c.2138A>T (p.His713Leu) http://identifiers.org/clinvar/245595 ^@ NM_004895.4(NLRP3):c.2157-7T>C http://identifiers.org/clinvar/246348 ^@ NM_004895.4(NLRP3):c.2327+11G>A http://identifiers.org/clinvar/246017 ^@ NM_004895.4(NLRP3):c.2498+8G>A http://identifiers.org/clinvar/246479 ^@ NM_003680.3(YARS):c.1543G>A (p.Gly515Ser) http://identifiers.org/clinvar/246011 ^@ NM_001128425.1(MUTYH):c.1070A>G (p.Asn357Ser) http://identifiers.org/clinvar/245998 ^@ NM_001128425.1(MUTYH):c.1043C>T (p.Pro348Leu) http://identifiers.org/clinvar/246240 ^@ NM_001128425.1(MUTYH):c.984C>A (p.Asp328Glu) http://identifiers.org/clinvar/246503 ^@ NM_001128425.1(MUTYH):c.893G>A (p.Ser298Asn) http://identifiers.org/clinvar/246433 ^@ NM_001128425.1(MUTYH):c.890G>A (p.Cys297Tyr) http://identifiers.org/clinvar/246428 ^@ NM_001128425.1(MUTYH):c.812A>G (p.Asp271Gly) http://identifiers.org/clinvar/246369 ^@ NM_001128425.1(MUTYH):c.778C>T (p.Gln260Ter) http://identifiers.org/clinvar/246512 ^@ NM_001128425.1(MUTYH):c.578T>C (p.Val193Ala) http://identifiers.org/clinvar/246266 ^@ NM_001128425.1(MUTYH):c.390G>A (p.Val130=) http://identifiers.org/clinvar/246019 ^@ NM_001128425.1(MUTYH):c.36+4C>G http://identifiers.org/clinvar/246207 ^@ NM_020631.4(PLEKHG5):c.2900G>T (p.Arg967Met) http://identifiers.org/clinvar/246359 ^@ NM_020631.4(PLEKHG5):c.2848G>T (p.Ala950Ser) http://identifiers.org/clinvar/246413 ^@ NM_020631.4(PLEKHG5):c.2609C>T (p.Pro870Leu) http://identifiers.org/clinvar/245769 ^@ NM_020631.4(PLEKHG5):c.2525G>A (p.Arg842Gln) http://identifiers.org/clinvar/245844 ^@ NM_020631.4(PLEKHG5):c.1826C>A (p.Thr609Lys) http://identifiers.org/clinvar/246143 ^@ NM_020631.4(PLEKHG5):c.1738G>A (p.Glu580Lys) http://identifiers.org/clinvar/245888 ^@ NM_020631.4(PLEKHG5):c.1507G>C (p.Glu503Gln) http://identifiers.org/clinvar/245662 ^@ NM_020631.4(PLEKHG5):c.994C>T (p.Arg332Trp) http://identifiers.org/clinvar/245734 ^@ NM_020631.4(PLEKHG5):c.793C>T (p.Arg265Trp) http://identifiers.org/clinvar/245661 ^@ NM_020631.4(PLEKHG5):c.638C>T (p.Ala213Val) http://identifiers.org/clinvar/246293 ^@ NM_020631.4(PLEKHG5):c.551G>A (p.Arg184His) http://identifiers.org/clinvar/245720 ^@ NM_020631.4(PLEKHG5):c.541G>A (p.Ala181Thr) http://identifiers.org/clinvar/246065 ^@ NM_020631.4(PLEKHG5):c.482T>C (p.Met161Thr) http://identifiers.org/clinvar/245731 ^@ NM_020631.4(PLEKHG5):c.395C>T (p.Thr132Ile) http://identifiers.org/clinvar/245660 ^@ NM_020631.4(PLEKHG5):c.307G>A (p.Val103Met) http://identifiers.org/clinvar/245867 ^@ NM_020631.4(PLEKHG5):c.274G>A (p.Val92Ile) http://identifiers.org/clinvar/245659 ^@ NM_020631.4(PLEKHG5):c.88C>T (p.Arg30Cys) http://identifiers.org/clinvar/245987 ^@ NM_020631.4(PLEKHG5):c.83C>T (p.Pro28Leu) http://identifiers.org/clinvar/246031 ^@ NM_020631.4(PLEKHG5):c.34C>A (p.Pro12Thr) http://identifiers.org/clinvar/246381 ^@ NM_002977.3(SCN9A):c.5916C>G (p.Ser1972Arg) http://identifiers.org/clinvar/246528 ^@ NM_002977.3(SCN9A):c.5582C>T (p.Pro1861Leu) http://identifiers.org/clinvar/246589 ^@ NM_002977.3(SCN9A):c.5387C>G (p.Ala1796Gly) http://identifiers.org/clinvar/246553 ^@ NM_002977.3(SCN9A):c.5359G>T (p.Glu1787Ter) http://identifiers.org/clinvar/245703 ^@ NM_002977.3(SCN9A):c.5218G>C (p.Val1740Leu) http://identifiers.org/clinvar/246177 ^@ NM_002977.3(SCN9A):c.5053A>T (p.Thr1685Ser) http://identifiers.org/clinvar/246334 ^@ NM_002977.3(SCN9A):c.4932G>T (p.Met1644Ile) http://identifiers.org/clinvar/245903 ^@ NM_002977.3(SCN9A):c.4895C>A (p.Ala1632Glu) http://identifiers.org/clinvar/246028 ^@ NM_002977.3(SCN9A):c.4871T>C (p.Phe1624Ser) http://identifiers.org/clinvar/245854 ^@ NM_002977.3(SCN9A):c.4470+1G>T http://identifiers.org/clinvar/245799 ^@ NM_002977.3(SCN9A):c.4462C>T (p.Arg1488Ter) http://identifiers.org/clinvar/245847 ^@ NM_002977.3(SCN9A):c.4443G>T (p.Lys1481Asn) http://identifiers.org/clinvar/246147 ^@ NM_002977.3(SCN9A):c.4256G>A (p.Ser1419Asn) http://identifiers.org/clinvar/246380 ^@ NM_002977.3(SCN9A):c.3018G>C (p.Lys1006Asn) http://identifiers.org/clinvar/246105 ^@ NM_002977.3(SCN9A):c.2567G>A (p.Gly856Asp) http://identifiers.org/clinvar/246247 ^@ NM_002977.3(SCN9A):c.2485-10T>G http://identifiers.org/clinvar/246106 ^@ NM_002977.3(SCN9A):c.2052A>G (p.Ile684Met) http://identifiers.org/clinvar/245897 ^@ NM_002977.3(SCN9A):c.1185C>G (p.Asn395Lys) http://identifiers.org/clinvar/245825 ^@ NM_002977.3(SCN9A):c.1115G>A (p.Arg372His) http://identifiers.org/clinvar/245822 ^@ NM_002977.3(SCN9A):c.1099T>C (p.Tyr367His) http://identifiers.org/clinvar/245823 ^@ NM_002977.3(SCN9A):c.1022A>G (p.Tyr341Cys) http://identifiers.org/clinvar/245762 ^@ NM_002977.3(SCN9A):c.695A>G (p.Lys232Arg) http://identifiers.org/clinvar/246187 ^@ NM_002977.3(SCN9A):c.628G>A (p.Val210Ile) http://identifiers.org/clinvar/246562 ^@ NM_002977.3(SCN9A):c.431C>T (p.Thr144Ile) http://identifiers.org/clinvar/245738 ^@ NM_002977.3(SCN9A):c.294C>A (p.Phe98Leu) http://identifiers.org/clinvar/245932 ^@ NM_002977.3(SCN9A):c.136G>A (p.Ala46Thr) http://identifiers.org/clinvar/245873 ^@ NM_002977.3(SCN9A):c.76C>T (p.Arg26Cys) http://identifiers.org/clinvar/243117 ^@ NM_000465.3(BARD1):c.2242G>A (p.Glu748Lys) http://identifiers.org/clinvar/246407 ^@ NM_000465.3(BARD1):c.1969C>A (p.Pro657Thr) http://identifiers.org/clinvar/245820 ^@ NM_000465.3(BARD1):c.1966G>C (p.Gly656Arg) http://identifiers.org/clinvar/246205 ^@ NM_000465.3(BARD1):c.1960C>T (p.Pro654Ser) http://identifiers.org/clinvar/245801 ^@ NM_000465.3(BARD1):c.1811-1G>A http://identifiers.org/clinvar/246449 ^@ NM_000465.3(BARD1):c.1811-10_1811-2delTGTATTTTA http://identifiers.org/clinvar/246505 ^@ NM_000465.3(BARD1):c.1772T>A (p.Ile591Asn) http://identifiers.org/clinvar/246411 ^@ NM_000465.3(BARD1):c.1569-12T>G http://identifiers.org/clinvar/246138 ^@ NM_000465.3(BARD1):c.1314+14T>C http://identifiers.org/clinvar/243116 ^@ NM_000465.3(BARD1):c.1284delA (p.Glu429Argfs) http://identifiers.org/clinvar/246141 ^@ NM_000465.3(BARD1):c.1244A>C (p.Lys415Thr) http://identifiers.org/clinvar/245891 ^@ NM_000465.3(BARD1):c.764A>G (p.Asn255Ser) http://identifiers.org/clinvar/245885 ^@ NM_000465.3(BARD1):c.760A>C (p.Ile254Leu) http://identifiers.org/clinvar/245753 ^@ NM_000465.3(BARD1):c.368T>G (p.Leu123Trp) http://identifiers.org/clinvar/246347 ^@ NM_000465.3(BARD1):c.304G>A (p.Asp102Asn) http://identifiers.org/clinvar/243115 ^@ NM_000465.3(BARD1):c.161C>G (p.Thr54Ser) http://identifiers.org/clinvar/246176 ^@ NM_000465.3(BARD1):c.159-1G>T http://identifiers.org/clinvar/246476 ^@ NM_000465.3(BARD1):c.102G>A (p.Trp34Ter) http://identifiers.org/clinvar/245771 ^@ NM_001039550.1(DNAJB2):c.311G>A (p.Arg104Gln) http://identifiers.org/clinvar/246601 ^@ NM_001039550.1(DNAJB2):c.664G>A (p.Glu222Lys) http://identifiers.org/clinvar/246213 ^@ NM_001039550.1(DNAJB2):c.761A>G (p.Asp254Gly) http://identifiers.org/clinvar/245691 ^@ NM_004321.7(KIF1A):c.4864G>A (p.Ala1622Thr) http://identifiers.org/clinvar/246454 ^@ NM_004321.7(KIF1A):c.4828G>A (p.Asp1610Asn) http://identifiers.org/clinvar/246594 ^@ NM_004321.7(KIF1A):c.4799G>A (p.Arg1600Gln) http://identifiers.org/clinvar/246058 ^@ NM_004321.7(KIF1A):c.4405C>T (p.His1469Tyr) http://identifiers.org/clinvar/246243 ^@ NM_004321.7(KIF1A):c.4208C>T (p.Thr1403Ile) http://identifiers.org/clinvar/245736 ^@ NM_004321.7(KIF1A):c.3994G>A (p.Val1332Met) http://identifiers.org/clinvar/245695 ^@ NM_004321.7(KIF1A):c.3676G>A (p.Gly1226Arg) http://identifiers.org/clinvar/246113 ^@ NM_004321.7(KIF1A):c.3607C>T (p.Arg1203Ter) http://identifiers.org/clinvar/245871 ^@ NM_004321.7(KIF1A):c.3371C>G (p.Pro1124Arg) http://identifiers.org/clinvar/245934 ^@ NM_004321.7(KIF1A):c.2798G>T (p.Arg933Leu) http://identifiers.org/clinvar/245637 ^@ NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) http://identifiers.org/clinvar/245693 ^@ NM_004321.7(KIF1A):c.2506G>T (p.Gly836Cys) http://identifiers.org/clinvar/246585 ^@ NM_004321.7(KIF1A):c.1809G>A (p.Glu603=) http://identifiers.org/clinvar/246249 ^@ NM_004321.7(KIF1A):c.1636G>A (p.Asp546Asn) http://identifiers.org/clinvar/245898 ^@ NM_004321.7(KIF1A):c.1450G>A (p.Gly484Ser) http://identifiers.org/clinvar/245788 ^@ NM_004321.7(KIF1A):c.1436A>T (p.Asp479Val) http://identifiers.org/clinvar/245928 ^@ NM_004321.7(KIF1A):c.1040A>G (p.Tyr347Cys) http://identifiers.org/clinvar/245914 ^@ NM_004321.7(KIF1A):c.925T>C (p.Ser309Pro) http://identifiers.org/clinvar/245961 ^@ NM_004321.7(KIF1A):c.829A>C (p.Thr277Pro) http://identifiers.org/clinvar/245636 ^@ NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) http://identifiers.org/clinvar/245789 ^@ NM_004321.7(KIF1A):c.536A>G (p.Glu179Gly) http://identifiers.org/clinvar/245852 ^@ NM_004321.7(KIF1A):c.41C>T (p.Pro14Leu) http://identifiers.org/clinvar/245645 ^@ NM_000251.2(MSH2):c.-29C>T http://identifiers.org/clinvar/245828 ^@ NM_000251.2(MSH2):c.38G>A (p.Ser13Asn) http://identifiers.org/clinvar/246289 ^@ NM_000251.2(MSH2):c.185G>C (p.Gly62Ala) http://identifiers.org/clinvar/246166 ^@ NM_000251.2(MSH2):c.274C>T (p.Leu92Phe) http://identifiers.org/clinvar/246229 ^@ NM_000251.2(MSH2):c.294T>A (p.Tyr98Ter) http://identifiers.org/clinvar/246010 ^@ NM_000251.2(MSH2):c.335C>T (p.Ser112Phe) http://identifiers.org/clinvar/245970 ^@ NM_000251.2(MSH2):c.352_358delTATTTGG (p.Tyr118Hisfs) http://identifiers.org/clinvar/245947 ^@ NM_000251.2(MSH2):c.366+1G>A http://identifiers.org/clinvar/245646 ^@ NM_000251.2(MSH2):c.565G>A (p.Ala189Thr) http://identifiers.org/clinvar/246152 ^@ NM_000251.2(MSH2):c.646-11T>C http://identifiers.org/clinvar/246363 ^@ NM_000251.2(MSH2):c.747G>C (p.Lys249Asn) http://identifiers.org/clinvar/246341 ^@ NM_000251.2(MSH2):c.751G>A (p.Glu251Lys) http://identifiers.org/clinvar/246308 ^@ NM_000251.2(MSH2):c.817G>A (p.Val273Ile) http://identifiers.org/clinvar/245802 ^@ NM_000251.2(MSH2):c.891C>G (p.Ser297Arg) http://identifiers.org/clinvar/246110 ^@ NM_000251.2(MSH2):c.897T>G (p.Tyr299Ter) http://identifiers.org/clinvar/245686 ^@ NM_000251.2(MSH2):c.1008delT (p.Gln337Lysfs) http://identifiers.org/clinvar/246107 ^@ NM_000251.2(MSH2):c.1051A>G (p.Met351Val) http://identifiers.org/clinvar/246497 ^@ NM_000251.2(MSH2):c.1077-18C>G http://identifiers.org/clinvar/246389 ^@ NM_000251.2(MSH2):c.1276G>A (p.Gly426Arg) http://identifiers.org/clinvar/246047 ^@ NM_000251.2(MSH2):c.1346A>G (p.Lys449Arg) http://identifiers.org/clinvar/246481 ^@ NM_000251.2(MSH2):c.1474A>T (p.Met492Leu) http://identifiers.org/clinvar/246000 ^@ NM_000251.2(MSH2):c.1562A>T (p.Tyr521Phe) http://identifiers.org/clinvar/246493 ^@ NM_000251.2(MSH2):c.1837A>T (p.Asn613Tyr) http://identifiers.org/clinvar/246322 ^@ NM_000251.2(MSH2):c.1867delG (p.Ala623Profs) http://identifiers.org/clinvar/246005 ^@ NM_000251.2(MSH2):c.1883G>A (p.Gly628Glu) http://identifiers.org/clinvar/246114 ^@ NM_000251.2(MSH2):c.2009C>A (p.Pro670His) http://identifiers.org/clinvar/246023 ^@ NM_000251.2(MSH2):c.2129C>T (p.Ala710Val) http://identifiers.org/clinvar/246314 ^@ NM_000251.2(MSH2):c.2170A>G (p.Thr724Ala) http://identifiers.org/clinvar/246264 ^@ NM_000251.2(MSH2):c.2224G>A (p.Asp742Asn) http://identifiers.org/clinvar/246035 ^@ NM_000251.2(MSH2):c.2290T>G (p.Trp764Gly) http://identifiers.org/clinvar/245647 ^@ NM_000251.2(MSH2):c.2362A>C (p.Thr788Pro) http://identifiers.org/clinvar/246167 ^@ NM_000251.2(MSH2):c.2536_2541delCAGAAA (p.Gln846_Lys847del) http://identifiers.org/clinvar/246206 ^@ NM_000251.2(MSH2):c.2620T>G (p.Tyr874Asp) http://identifiers.org/clinvar/246511 ^@ NM_000251.2(MSH2):c.2650A>T (p.Ile884Phe) http://identifiers.org/clinvar/246423 ^@ NM_000251.2(MSH2):c.2725A>C (p.Lys909Gln) http://identifiers.org/clinvar/245986 ^@ NM_022912.2(REEP1):c.529C>T (p.Arg177Trp) http://identifiers.org/clinvar/245981 ^@ NM_022912.2(REEP1):c.264C>G (p.Tyr88Ter) http://identifiers.org/clinvar/245772 ^@ NM_006070.5(TFG):c.1060C>G (p.Pro354Ala) http://identifiers.org/clinvar/246195 ^@ NM_006070.5(TFG):c.1169A>G (p.Gln390Arg) http://identifiers.org/clinvar/246132 ^@ NM_000551.3(VHL):c.86_87delGCinsTT (p.Gly29Val) http://identifiers.org/clinvar/246383 ^@ NM_000551.3(VHL):c.347T>G (p.Leu116Arg) http://identifiers.org/clinvar/245895 ^@ NM_000551.3(VHL):c.463+4C>T http://identifiers.org/clinvar/246368 ^@ NM_000551.3(VHL):c.578A>G (p.Asn193Ser) http://identifiers.org/clinvar/245880 ^@ NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) http://identifiers.org/clinvar/245956 ^@ NM_000038.5(APC):c.-43A>C http://identifiers.org/clinvar/246492 ^@ NM_000038.5(APC):c.137A>G (p.Glu46Gly) http://identifiers.org/clinvar/246181 ^@ NM_000038.5(APC):c.315_318delCCGTinsA (p.Ser105del) http://identifiers.org/clinvar/246235 ^@ NM_000038.5(APC):c.422+2T>C http://identifiers.org/clinvar/246083 ^@ NM_000038.5(APC):c.423-2A>T http://identifiers.org/clinvar/246003 ^@ NM_000038.5(APC):c.440A>G (p.Asp147Gly) http://identifiers.org/clinvar/246084 ^@ NM_000038.5(APC):c.477C>G (p.Tyr159Ter) http://identifiers.org/clinvar/246301 ^@ NM_000038.5(APC):c.596C>T (p.Ala199Val) http://identifiers.org/clinvar/246199 ^@ NM_000038.5(APC):c.646-8T>A http://identifiers.org/clinvar/243106 ^@ NM_000038.5(APC):c.721G>A (p.Glu241Lys) http://identifiers.org/clinvar/246085 ^@ NM_000038.5(APC):c.1239dupA (p.Arg414Thrfs) http://identifiers.org/clinvar/245917 ^@ NM_000038.5(APC):c.1440A>C (p.Gln480His) http://identifiers.org/clinvar/246087 ^@ NM_000038.5(APC):c.1548G>C (p.Lys516Asn) http://identifiers.org/clinvar/245982 ^@ NM_000038.5(APC):c.1958+3A>G http://identifiers.org/clinvar/246126 ^@ NM_000038.5(APC):c.2395delT (p.Tyr799Metfs) http://identifiers.org/clinvar/246088 ^@ NM_000038.5(APC):c.2527_2530delAGTT (p.Ser843Leufs) http://identifiers.org/clinvar/246136 ^@ NM_000038.5(APC):c.2855C>T (p.Ala952Val) http://identifiers.org/clinvar/243107 ^@ NM_000038.5(APC):c.3016C>T (p.His1006Tyr) http://identifiers.org/clinvar/246089 ^@ NM_000038.5(APC):c.3306C>A (p.Tyr1102Ter) http://identifiers.org/clinvar/246198 ^@ NM_000038.5(APC):c.3429_3430dupTA (p.Ser1144Ilefs) http://identifiers.org/clinvar/246486 ^@ NM_000038.5(APC):c.3499_3501delAAT (p.Asn1167del) http://identifiers.org/clinvar/246086 ^@ NM_000038.5(APC):c.3593C>G (p.Ser1198Ter) http://identifiers.org/clinvar/243108 ^@ NM_000038.5(APC):c.3691C>T (p.Leu1231Phe) http://identifiers.org/clinvar/246020 ^@ NM_000038.5(APC):c.4495G>A (p.Gly1499Arg) http://identifiers.org/clinvar/246480 ^@ NM_000038.5(APC):c.4647delA (p.Glu1550Argfs) http://identifiers.org/clinvar/245712 ^@ NM_000038.5(APC):c.4669A>G (p.Ile1557Val) http://identifiers.org/clinvar/246402 ^@ NM_000038.5(APC):c.4735A>T (p.Ile1579Phe) http://identifiers.org/clinvar/246450 ^@ NM_000038.5(APC):c.4844A>G (p.Tyr1615Cys) http://identifiers.org/clinvar/246415 ^@ NM_000038.5(APC):c.5339C>A (p.Pro1780Gln) http://identifiers.org/clinvar/246257 ^@ NM_000038.5(APC):c.5503A>G (p.Arg1835Gly) http://identifiers.org/clinvar/246367 ^@ NM_000038.5(APC):c.5741C>G (p.Ala1914Gly) http://identifiers.org/clinvar/245782 ^@ NM_000038.5(APC):c.5774C>A (p.Pro1925His) http://identifiers.org/clinvar/246427 ^@ NM_000038.5(APC):c.5789A>C (p.Gln1930Pro) http://identifiers.org/clinvar/246202 ^@ NM_000038.5(APC):c.5866A>G (p.Ile1956Val) http://identifiers.org/clinvar/246067 ^@ NM_000038.5(APC):c.5880_5881delGGinsAC (p.Val1961Leu) http://identifiers.org/clinvar/246370 ^@ NM_000038.5(APC):c.6010dupG (p.Ala2004Glyfs) http://identifiers.org/clinvar/246210 ^@ NM_000038.5(APC):c.6093_6095delTATinsAC (p.Ser2031Argfs) http://identifiers.org/clinvar/246238 ^@ NM_000038.5(APC):c.6278C>T (p.Ser2093Phe) http://identifiers.org/clinvar/246231 ^@ NM_000038.5(APC):c.6329C>G (p.Ser2110Cys) http://identifiers.org/clinvar/246324 ^@ NM_000038.5(APC):c.6658A>G (p.Asn2220Asp) http://identifiers.org/clinvar/246357 ^@ NM_000038.5(APC):c.7117A>G (p.Met2373Val) http://identifiers.org/clinvar/246162 ^@ NM_000038.5(APC):c.7264A>C (p.Thr2422Pro) http://identifiers.org/clinvar/246445 ^@ NM_000038.5(APC):c.7292G>A (p.Arg2431Lys) http://identifiers.org/clinvar/245740 ^@ NM_000038.5(APC):c.7645C>T (p.Arg2549Cys) http://identifiers.org/clinvar/246385 ^@ NM_000038.5(APC):c.7922A>C (p.Lys2641Thr) http://identifiers.org/clinvar/246482 ^@ NM_000038.5(APC):c.8029G>A (p.Gly2677Ser) http://identifiers.org/clinvar/243109 ^@ NM_000038.5(APC):c.8057T>C (p.Val2686Ala) http://identifiers.org/clinvar/246208 ^@ NM_000038.5(APC):c.8075C>T (p.Pro2692Leu) http://identifiers.org/clinvar/246268 ^@ NM_000038.5(APC):c.8286C>A (p.Phe2762Leu) http://identifiers.org/clinvar/245699 ^@ NM_000038.5(APC):c.8402G>A (p.Arg2801Gln) http://identifiers.org/clinvar/245889 ^@ NM_000038.5(APC):c.8441_8444delAGAA (p.Lys2814Serfs) http://identifiers.org/clinvar/246535 ^@ NM_005340.6(HINT1):c.203A>T (p.Asp68Val) http://identifiers.org/clinvar/245766 ^@ NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) http://identifiers.org/clinvar/246560 ^@ NM_024577.3(SH3TC2):c.3166C>T (p.Leu1056Phe) http://identifiers.org/clinvar/246193 ^@ NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) http://identifiers.org/clinvar/245730 ^@ NM_024577.3(SH3TC2):c.2551C>T (p.Arg851Trp) http://identifiers.org/clinvar/245765 ^@ NM_024577.3(SH3TC2):c.2506G>A (p.Gly836Arg) http://identifiers.org/clinvar/246578 ^@ NM_024577.3(SH3TC2):c.2488G>T (p.Glu830Ter) http://identifiers.org/clinvar/245704 ^@ NM_024577.3(SH3TC2):c.2306A>G (p.Glu769Gly) http://identifiers.org/clinvar/246532 ^@ NM_024577.3(SH3TC2):c.1797_1800dupGGCC (p.Cys601Glyfs) http://identifiers.org/clinvar/246248 ^@ NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His) http://identifiers.org/clinvar/245683 ^@ NM_024577.3(SH3TC2):c.1195T>C (p.Phe399Leu) http://identifiers.org/clinvar/245849 ^@ NM_024577.3(SH3TC2):c.1002-5T>A http://identifiers.org/clinvar/246592 ^@ NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) http://identifiers.org/clinvar/245804 ^@ NM_024577.3(SH3TC2):c.836A>G (p.Tyr279Cys) http://identifiers.org/clinvar/246577 ^@ NM_024577.3(SH3TC2):c.731+5G>A http://identifiers.org/clinvar/245735 ^@ NM_024577.3(SH3TC2):c.635A>G (p.Glu212Gly) http://identifiers.org/clinvar/246034 ^@ NM_024577.3(SH3TC2):c.52+4_52+5delAG http://identifiers.org/clinvar/245856 ^@ NM_001034850.2(RETREG1):c.797G>C (p.Arg266Pro) http://identifiers.org/clinvar/245600 ^@ NM_001034850.2(RETREG1):c.607G>A (p.Val203Met) http://identifiers.org/clinvar/245845 ^@ NM_001034850.2(RETREG1):c.280C>G (p.Arg94Gly) http://identifiers.org/clinvar/246552 ^@ NM_014845.5(FIG4):c.263G>A (p.Arg88Gln) http://identifiers.org/clinvar/246183 ^@ NM_014845.5(FIG4):c.506A>C (p.Tyr169Ser) http://identifiers.org/clinvar/245742 ^@ NM_014845.5(FIG4):c.719G>C (p.Ser240Thr) http://identifiers.org/clinvar/245776 ^@ NM_014845.5(FIG4):c.1051G>C (p.Asp351His) http://identifiers.org/clinvar/245747 ^@ NM_014845.5(FIG4):c.1207C>T (p.Gln403Ter) http://identifiers.org/clinvar/246119 ^@ NM_014845.5(FIG4):c.1388+5G>T http://identifiers.org/clinvar/245603 ^@ NM_014845.5(FIG4):c.2035C>T (p.Arg679Trp) http://identifiers.org/clinvar/246456 ^@ NM_014845.5(FIG4):c.2080A>G (p.Met694Val) http://identifiers.org/clinvar/245855 ^@ NM_014845.5(FIG4):c.2405A>G (p.Tyr802Cys) http://identifiers.org/clinvar/246120 ^@ NM_014845.5(FIG4):c.2459+1G>A http://identifiers.org/clinvar/246355 ^@ NM_005431.1(XRCC2):c.650G>A (p.Cys217Tyr) http://identifiers.org/clinvar/246108 ^@ NM_005431.1(XRCC2):c.644G>A (p.Arg215Gln) http://identifiers.org/clinvar/246469 ^@ NM_005431.1(XRCC2):c.596T>A (p.Met199Lys) http://identifiers.org/clinvar/246464 ^@ NM_005431.1(XRCC2):c.570delT (p.Leu191Phefs) http://identifiers.org/clinvar/246036 ^@ NM_005431.1(XRCC2):c.353T>G (p.Val118Gly) http://identifiers.org/clinvar/246232 ^@ NM_005431.1(XRCC2):c.232G>A (p.Val78Ile) http://identifiers.org/clinvar/245958 ^@ NM_005431.1(XRCC2):c.181C>A (p.Leu61Ile) http://identifiers.org/clinvar/246591 ^@ NM_002047.3(GARS):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/245685 ^@ NM_002047.3(GARS):c.302G>A (p.Arg101His) http://identifiers.org/clinvar/245830 ^@ NM_002047.3(GARS):c.305A>G (p.Lys102Arg) http://identifiers.org/clinvar/245853 ^@ NM_002047.3(GARS):c.787G>A (p.Val263Ile) http://identifiers.org/clinvar/245951 ^@ NM_002047.3(GARS):c.1359+1G>A http://identifiers.org/clinvar/246485 ^@ NM_002047.3(GARS):c.1643C>G (p.Thr548Arg) http://identifiers.org/clinvar/246215 ^@ NM_002047.3(GARS):c.1754T>C (p.Met585Thr) http://identifiers.org/clinvar/245625 ^@ NM_001540.3(HSPB1):c.80G>C (p.Arg27Pro) http://identifiers.org/clinvar/245778 ^@ NM_001540.3(HSPB1):c.449C>A (p.Pro150His) http://identifiers.org/clinvar/246576 ^@ NM_001540.3(HSPB1):c.574G>T (p.Gly192Trp) http://identifiers.org/clinvar/246590 ^@ NM_006096.3(NDRG1):c.1081C>T (p.Arg361Cys) http://identifiers.org/clinvar/246500 ^@ NM_006096.3(NDRG1):c.681dupC (p.Ile228Hisfs) http://identifiers.org/clinvar/246379 ^@ NM_006096.3(NDRG1):c.431A>G (p.Tyr144Cys) http://identifiers.org/clinvar/246546 ^@ NM_006096.3(NDRG1):c.205C>T (p.His69Tyr) http://identifiers.org/clinvar/245649 ^@ NM_006096.3(NDRG1):c.122A>G (p.His41Arg) http://identifiers.org/clinvar/245818 ^@ NM_024531.4(SLC52A2):c.107T>G (p.Val36Gly) http://identifiers.org/clinvar/246544 ^@ NM_024531.4(SLC52A2):c.245G>C (p.Arg82Pro) http://identifiers.org/clinvar/246564 ^@ NM_024531.4(SLC52A2):c.376T>G (p.Cys126Gly) http://identifiers.org/clinvar/246565 ^@ NM_024531.4(SLC52A2):c.736G>C (p.Glu246Gln) http://identifiers.org/clinvar/246504 ^@ NM_024531.4(SLC52A2):c.806A>G (p.Tyr269Cys) http://identifiers.org/clinvar/246558 ^@ NM_024531.4(SLC52A2):c.917G>A (p.Gly306Glu) http://identifiers.org/clinvar/246543 ^@ NM_024531.4(SLC52A2):c.1140delG (p.Leu381Cysfs) http://identifiers.org/clinvar/245748 ^@ NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) http://identifiers.org/clinvar/245605 ^@ NM_018972.2(GDAP1):c.23A>G (p.Gln8Arg) http://identifiers.org/clinvar/245606 ^@ NM_018972.2(GDAP1):c.310+6delG http://identifiers.org/clinvar/245933 ^@ NM_018972.2(GDAP1):c.376G>A (p.Glu126Lys) http://identifiers.org/clinvar/245607 ^@ NM_018972.2(GDAP1):c.399G>A (p.Met133Ile) http://identifiers.org/clinvar/245608 ^@ NM_018972.2(GDAP1):c.769C>T (p.Arg257Ter) http://identifiers.org/clinvar/246285 ^@ NM_018972.2(GDAP1):c.818G>A (p.Arg273Gln) http://identifiers.org/clinvar/246290 ^@ NM_018972.2(GDAP1):c.985C>T (p.Leu329Phe) http://identifiers.org/clinvar/246548 ^@ NM_003640.4(IKBKAP):c.3014C>T (p.Ala1005Val) http://identifiers.org/clinvar/245634 ^@ NM_003640.4(IKBKAP):c.2543C>A (p.Thr848Asn) http://identifiers.org/clinvar/245860 ^@ NM_003640.4(IKBKAP):c.2506T>A (p.Cys836Ser) http://identifiers.org/clinvar/246551 ^@ NM_003640.4(IKBKAP):c.2065C>T (p.Arg689Trp) http://identifiers.org/clinvar/246550 ^@ NM_003640.4(IKBKAP):c.1730A>G (p.Gln577Arg) http://identifiers.org/clinvar/246191 ^@ NM_003640.4(IKBKAP):c.360C>G (p.Asp120Glu) http://identifiers.org/clinvar/246382 ^@ NM_003640.4(IKBKAP):c.359A>G (p.Asp120Gly) http://identifiers.org/clinvar/246586 ^@ NM_003640.4(IKBKAP):c.80G>A (p.Arg27Gln) http://identifiers.org/clinvar/246333 ^@ NM_003640.4(IKBKAP):c.56G>A (p.Gly19Glu) http://identifiers.org/clinvar/245795 ^@ NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) http://identifiers.org/clinvar/245644 ^@ NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) http://identifiers.org/clinvar/245886 ^@ NM_138361.5(LRSAM1):c.1514C>T (p.Ser505Leu) http://identifiers.org/clinvar/245821 ^@ NM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly) http://identifiers.org/clinvar/246595 ^@ NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) http://identifiers.org/clinvar/246184 ^@ NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) http://identifiers.org/clinvar/246033 ^@ NM_138361.5(LRSAM1):c.2050C>T (p.Gln684Ter) http://identifiers.org/clinvar/245681 ^@ NM_000077.4(CDKN2A):c.427G>A (p.Ala143Thr) http://identifiers.org/clinvar/246046 ^@ NM_000077.4(CDKN2A):c.426T>G (p.His142Gln) http://identifiers.org/clinvar/246437 ^@ NM_000077.4(CDKN2A):c.344T>A (p.Val115Glu) http://identifiers.org/clinvar/246117 ^@ NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) http://identifiers.org/clinvar/246070 ^@ NM_000077.4(CDKN2A):c.89C>T (p.Ala30Val) http://identifiers.org/clinvar/245907 ^@ NM_000077.4(CDKN2A):c.-34G>C http://identifiers.org/clinvar/245906 ^@ NM_000077.4(CDKN2A):c.-19297C>T http://identifiers.org/clinvar/246004 ^@ NM_000077.4(CDKN2A):c.-19411G>A http://identifiers.org/clinvar/245816 ^@ NM_000077.4(CDKN2A):c.-19492T>A http://identifiers.org/clinvar/245877 ^@ NM_006415.3(SPTLC1):c.889-5G>A http://identifiers.org/clinvar/246520 ^@ NM_006415.3(SPTLC1):c.58G>T (p.Ala20Ser) http://identifiers.org/clinvar/246474 ^@ NM_000399.4(EGR2):c.1151A>G (p.His384Arg) http://identifiers.org/clinvar/246013 ^@ NM_000399.4(EGR2):c.644C>T (p.Thr215Met) http://identifiers.org/clinvar/246447 ^@ NM_000399.4(EGR2):c.340A>G (p.Asn114Asp) http://identifiers.org/clinvar/246186 ^@ NM_000399.4(EGR2):c.192G>C (p.Met64Ile) http://identifiers.org/clinvar/246185 ^@ NM_000399.4(EGR2):c.174C>T (p.Gly58=) http://identifiers.org/clinvar/246071 ^@ NM_004329.2(BMPR1A):c.-20G>A http://identifiers.org/clinvar/246405 ^@ NM_004329.2(BMPR1A):c.191C>T (p.Ser64Leu) http://identifiers.org/clinvar/246466 ^@ NM_004329.2(BMPR1A):c.562C>T (p.Arg188Cys) http://identifiers.org/clinvar/246218 ^@ NM_004329.2(BMPR1A):c.605T>C (p.Val202Ala) http://identifiers.org/clinvar/246321 ^@ NM_004329.2(BMPR1A):c.987A>C (p.Arg329Ser) http://identifiers.org/clinvar/246018 ^@ NM_004329.2(BMPR1A):c.1166G>A (p.Ser389Asn) http://identifiers.org/clinvar/246435 ^@ NM_004329.2(BMPR1A):c.1432C>T (p.Arg478Cys) http://identifiers.org/clinvar/246459 ^@ NM_004329.2(BMPR1A):c.1573G>A (p.Val525Ile) http://identifiers.org/clinvar/245819 ^@ NM_030962.3(SBF2):c.861+5G>C http://identifiers.org/clinvar/245893 ^@ NM_030962.3(SBF2):c.766C>A (p.Pro256Thr) http://identifiers.org/clinvar/245722 ^@ NM_030962.3(SBF2):c.304G>T (p.Gly102Cys) http://identifiers.org/clinvar/246026 ^@ NM_000051.3(ATM):c.8delT (p.Leu3Glnfs) http://identifiers.org/clinvar/246102 ^@ NM_000051.3(ATM):c.86A>C (p.Lys29Thr) http://identifiers.org/clinvar/246225 ^@ NM_000051.3(ATM):c.299_307delTGGTCAAAT (p.Leu100_Lys102del) http://identifiers.org/clinvar/246156 ^@ NM_000051.3(ATM):c.596G>A (p.Cys199Tyr) http://identifiers.org/clinvar/246054 ^@ NM_000051.3(ATM):c.680delC (p.Ser227Terfs) http://identifiers.org/clinvar/245999 ^@ NM_000051.3(ATM):c.1044G>T (p.Leu348Phe) http://identifiers.org/clinvar/245781 ^@ NM_000051.3(ATM):c.1047G>A (p.Met349Ile) http://identifiers.org/clinvar/246022 ^@ NM_000051.3(ATM):c.1048G>A (p.Ala350Thr) http://identifiers.org/clinvar/246312 ^@ NM_000051.3(ATM):c.1051G>C (p.Asp351His) http://identifiers.org/clinvar/246292 ^@ NM_000051.3(ATM):c.1096A>G (p.Ile366Val) http://identifiers.org/clinvar/246391 ^@ NM_000051.3(ATM):c.1099T>C (p.Ser367Pro) http://identifiers.org/clinvar/246498 ^@ NM_000051.3(ATM):c.1112C>T (p.Thr371Ile) http://identifiers.org/clinvar/246406 ^@ NM_000051.3(ATM):c.1438T>G (p.Leu480Val) http://identifiers.org/clinvar/246090 ^@ NM_000051.3(ATM):c.1463G>A (p.Trp488Ter) http://identifiers.org/clinvar/246372 ^@ NM_000051.3(ATM):c.1759G>A (p.Gly587Ser) http://identifiers.org/clinvar/246258 ^@ NM_000051.3(ATM):c.1814A>G (p.His605Arg) http://identifiers.org/clinvar/246091 ^@ NM_000051.3(ATM):c.1898+3_1898+4delAT http://identifiers.org/clinvar/246276 ^@ NM_000051.3(ATM):c.1918A>T (p.Lys640Ter) http://identifiers.org/clinvar/246250 ^@ NM_000051.3(ATM):c.2086G>A (p.Gly696Arg) http://identifiers.org/clinvar/245775 ^@ NM_000051.3(ATM):c.2125A>T (p.Ile709Phe) http://identifiers.org/clinvar/245926 ^@ NM_000051.3(ATM):c.2251-19T>C http://identifiers.org/clinvar/246109 ^@ NM_000051.3(ATM):c.2251-7A>G http://identifiers.org/clinvar/246438 ^@ NM_000051.3(ATM):c.2443A>G (p.Ile815Val) http://identifiers.org/clinvar/246394 ^@ NM_000051.3(ATM):c.2494C>A (p.Arg832Ser) http://identifiers.org/clinvar/245955 ^@ NM_000051.3(ATM):c.2498G>C (p.Gly833Ala) http://identifiers.org/clinvar/246328 ^@ NM_000051.3(ATM):c.2500_2501delGAinsCT (p.Glu834Leu) http://identifiers.org/clinvar/246009 ^@ NM_000051.3(ATM):c.2542G>A (p.Glu848Lys) http://identifiers.org/clinvar/246364 ^@ NM_000051.3(ATM):c.2636T>C (p.Ile879Thr) http://identifiers.org/clinvar/246078 ^@ NM_000051.3(ATM):c.2662G>T (p.Glu888Ter) http://identifiers.org/clinvar/246496 ^@ NM_000051.3(ATM):c.2723T>C (p.Val908Ala) http://identifiers.org/clinvar/246478 ^@ NM_000051.3(ATM):c.3279_3282delCAAT (p.Asn1094Aspfs) http://identifiers.org/clinvar/246053 ^@ NM_000051.3(ATM):c.3417G>A (p.Glu1139=) http://identifiers.org/clinvar/245790 ^@ NM_000051.3(ATM):c.3431T>C (p.Leu1144Ser) http://identifiers.org/clinvar/245969 ^@ NM_000051.3(ATM):c.3589G>C (p.Val1197Leu) http://identifiers.org/clinvar/246339 ^@ NM_000051.3(ATM):c.3695C>G (p.Ser1232Cys) http://identifiers.org/clinvar/246275 ^@ NM_000051.3(ATM):c.4104_4105delTT (p.Ser1369Argfs) http://identifiers.org/clinvar/245985 ^@ NM_000051.3(ATM):c.4109+1G>T http://identifiers.org/clinvar/245971 ^@ NM_000051.3(ATM):c.4158T>G (p.Ile1386Met) http://identifiers.org/clinvar/245791 ^@ NM_000051.3(ATM):c.4631A>G (p.Tyr1544Cys) http://identifiers.org/clinvar/246473 ^@ NM_000051.3(ATM):c.5006-14delA http://identifiers.org/clinvar/246323 ^@ NM_000051.3(ATM):c.5053A>G (p.Thr1685Ala) http://identifiers.org/clinvar/246277 ^@ NM_000051.3(ATM):c.5054C>T (p.Thr1685Ile) http://identifiers.org/clinvar/246410 ^@ NM_000051.3(ATM):c.5076A>C (p.Lys1692Asn) http://identifiers.org/clinvar/246169 ^@ NM_000051.3(ATM):c.5237G>T (p.Gly1746Val) http://identifiers.org/clinvar/246468 ^@ NM_000051.3(ATM):c.5392C>G (p.Leu1798Val) http://identifiers.org/clinvar/246237 ^@ NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) http://identifiers.org/clinvar/246001 ^@ NM_000051.3(ATM):c.5416delA (p.Ile1806Terfs) http://identifiers.org/clinvar/246256 ^@ NM_000051.3(ATM):c.5496+1G>A http://identifiers.org/clinvar/246401 ^@ NM_000051.3(ATM):c.5516dupA (p.Thr1840Aspfs) http://identifiers.org/clinvar/246068 ^@ NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) http://identifiers.org/clinvar/245815 ^@ NM_000051.3(ATM):c.5623C>T (p.Arg1875Ter) http://identifiers.org/clinvar/245979 ^@ NM_000051.3(ATM):c.5675-10T>G http://identifiers.org/clinvar/246465 ^@ NM_000051.3(ATM):c.5947dupA (p.Ser1983Lysfs) http://identifiers.org/clinvar/246420 ^@ NM_000051.3(ATM):c.5953A>G (p.Thr1985Ala) http://identifiers.org/clinvar/246116 ^@ NM_000051.3(ATM):c.6006+4_6006+5delAA http://identifiers.org/clinvar/246092 ^@ NM_000051.3(ATM):c.6096-9_6096-5delTTCTT http://identifiers.org/clinvar/246196 ^@ NM_000051.3(ATM):c.6134C>A (p.Ala2045Asp) http://identifiers.org/clinvar/245884 ^@ NM_000051.3(ATM):c.6313A>G (p.Arg2105Gly) http://identifiers.org/clinvar/245879 ^@ NM_000051.3(ATM):c.6435_6436delAA (p.Leu2147Glnfs) http://identifiers.org/clinvar/246421 ^@ NM_000051.3(ATM):c.6554T>C (p.Ile2185Thr) http://identifiers.org/clinvar/246165 ^@ NM_000051.3(ATM):c.6680G>A (p.Arg2227His) http://identifiers.org/clinvar/246299 ^@ NM_000051.3(ATM):c.6975+2T>C http://identifiers.org/clinvar/246434 ^@ NM_000051.3(ATM):c.7001A>G (p.Tyr2334Cys) http://identifiers.org/clinvar/246356 ^@ NM_000051.3(ATM):c.7068_7070delCAT (p.Ile2356del) http://identifiers.org/clinvar/246353 ^@ NM_000051.3(ATM):c.7108A>G (p.Asn2370Asp) http://identifiers.org/clinvar/246253 ^@ NM_000051.3(ATM):c.7215G>A (p.Met2405Ile) http://identifiers.org/clinvar/246371 ^@ NM_000051.3(ATM):c.7240C>A (p.Gln2414Lys) http://identifiers.org/clinvar/246409 ^@ NM_000051.3(ATM):c.7331A>C (p.Glu2444Ala) http://identifiers.org/clinvar/246303 ^@ NM_000051.3(ATM):c.7373A>T (p.Asp2458Val) http://identifiers.org/clinvar/245972 ^@ NM_000051.3(ATM):c.7449G>A (p.Trp2483Ter) http://identifiers.org/clinvar/246306 ^@ NM_000051.3(ATM):c.7515+19A>T http://identifiers.org/clinvar/246170 ^@ NM_000051.3(ATM):c.7553C>T (p.Pro2518Leu) http://identifiers.org/clinvar/246325 ^@ NM_000051.3(ATM):c.7736G>C (p.Arg2579Thr) http://identifiers.org/clinvar/246331 ^@ NM_000051.3(ATM):c.8096C>G (p.Pro2699Arg) http://identifiers.org/clinvar/246093 ^@ NM_000051.3(ATM):c.8265T>G (p.Tyr2755Ter) http://identifiers.org/clinvar/245989 ^@ NM_000051.3(ATM):c.8292_8293delTG (p.Ser2764Argfs) http://identifiers.org/clinvar/246398 ^@ NM_000051.3(ATM):c.8330G>T (p.Gly2777Val) http://identifiers.org/clinvar/243110 ^@ NM_000051.3(ATM):c.8360C>T (p.Ala2787Val) http://identifiers.org/clinvar/246467 ^@ NM_000051.3(ATM):c.8399A>C (p.Gln2800Pro) http://identifiers.org/clinvar/245689 ^@ NM_000051.3(ATM):c.8400G>C (p.Gln2800His) http://identifiers.org/clinvar/245835 ^@ NM_000051.3(ATM):c.8506A>G (p.Met2836Val) http://identifiers.org/clinvar/246048 ^@ NM_000051.3(ATM):c.8525C>G (p.Pro2842Arg) http://identifiers.org/clinvar/245842 ^@ NM_000051.3(ATM):c.8663T>C (p.Ile2888Thr) http://identifiers.org/clinvar/245841 ^@ NM_000051.3(ATM):c.9039dupA (p.Gln3014Thrfs) http://identifiers.org/clinvar/245826 ^@ NM_000051.3(ATM):c.9067G>A (p.Gly3023Ser) http://identifiers.org/clinvar/246344 ^@ NM_000051.3(ATM):c.9088G>A (p.Gly3030Arg) http://identifiers.org/clinvar/246403 ^@ NM_000051.3(ATM):c.9128A>G (p.Lys3043Arg) http://identifiers.org/clinvar/245798 ^@ NM_032667.6(BSCL2):c.1009G>A (p.Gly337Arg) http://identifiers.org/clinvar/245942 ^@ NM_032667.6(BSCL2):c.976G>A (p.Glu326Lys) http://identifiers.org/clinvar/245977 ^@ NM_032667.6(BSCL2):c.814-2A>G http://identifiers.org/clinvar/246574 ^@ NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr) http://identifiers.org/clinvar/246212 ^@ NM_032667.6(BSCL2):c.295-14G>A http://identifiers.org/clinvar/246599 ^@ NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) http://identifiers.org/clinvar/246596 ^@ NM_032667.6(BSCL2):c.228C>T (p.Ser76=) http://identifiers.org/clinvar/245687 ^@ NM_032667.6(BSCL2):c.217G>A (p.Asp73Asn) http://identifiers.org/clinvar/246509 ^@ NM_032667.6(BSCL2):c.107G>T (p.Cys36Phe) http://identifiers.org/clinvar/245751 ^@ NM_032667.6(BSCL2):c.80T>C (p.Leu27Pro) http://identifiers.org/clinvar/246597 ^@ NM_002180.2(IGHMBP2):c.208A>G (p.Arg70Gly) http://identifiers.org/clinvar/246016 ^@ NM_002180.2(IGHMBP2):c.284C>T (p.Ala95Val) http://identifiers.org/clinvar/245834 ^@ NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg) http://identifiers.org/clinvar/245908 ^@ NM_002180.2(IGHMBP2):c.575T>A (p.Leu192Gln) http://identifiers.org/clinvar/245922 ^@ NM_002180.2(IGHMBP2):c.657G>T (p.Gly219=) http://identifiers.org/clinvar/245931 ^@ NM_002180.2(IGHMBP2):c.736A>G (p.Ile246Val) http://identifiers.org/clinvar/246563 ^@ NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His) http://identifiers.org/clinvar/245927 ^@ NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp) http://identifiers.org/clinvar/245626 ^@ NM_002180.2(IGHMBP2):c.1060+2T>C http://identifiers.org/clinvar/245627 ^@ NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) http://identifiers.org/clinvar/245628 ^@ NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn) http://identifiers.org/clinvar/245837 ^@ NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) http://identifiers.org/clinvar/245629 ^@ NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) http://identifiers.org/clinvar/245630 ^@ NM_002180.2(IGHMBP2):c.1737C>A (p.Phe579Leu) http://identifiers.org/clinvar/245909 ^@ NM_002180.2(IGHMBP2):c.1789A>T (p.Ile597Phe) http://identifiers.org/clinvar/245883 ^@ NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) http://identifiers.org/clinvar/246412 ^@ NM_002180.2(IGHMBP2):c.1849G>A (p.Val617Ile) http://identifiers.org/clinvar/245746 ^@ NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn) http://identifiers.org/clinvar/246190 ^@ NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu) http://identifiers.org/clinvar/246581 ^@ NM_002180.2(IGHMBP2):c.2133C>G (p.Ser711Arg) http://identifiers.org/clinvar/245631 ^@ NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) http://identifiers.org/clinvar/245872 ^@ NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) http://identifiers.org/clinvar/245632 ^@ NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) http://identifiers.org/clinvar/246241 ^@ NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln) http://identifiers.org/clinvar/245937 ^@ NM_002180.2(IGHMBP2):c.2573A>G (p.Gln858Arg) http://identifiers.org/clinvar/245869 ^@ NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu) http://identifiers.org/clinvar/245633 ^@ NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) http://identifiers.org/clinvar/246570 ^@ NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) http://identifiers.org/clinvar/246557 ^@ NM_016156.5(MTMR2):c.952A>G (p.Ile318Val) http://identifiers.org/clinvar/245770 ^@ NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) http://identifiers.org/clinvar/245894 ^@ NM_030962.3(SBF2):c.4315C>T (p.Gln1439Ter) http://identifiers.org/clinvar/245864 ^@ NM_030962.3(SBF2):c.4156C>G (p.Leu1386Val) http://identifiers.org/clinvar/246374 ^@ NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met) http://identifiers.org/clinvar/246568 ^@ NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) http://identifiers.org/clinvar/246179 ^@ NM_030962.3(SBF2):c.3451C>T (p.Arg1151Trp) http://identifiers.org/clinvar/246062 ^@ NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) http://identifiers.org/clinvar/246531 ^@ NM_030962.3(SBF2):c.3067C>G (p.Gln1023Glu) http://identifiers.org/clinvar/245995 ^@ NM_030962.3(SBF2):c.2624G>T (p.Arg875Ile) http://identifiers.org/clinvar/246294 ^@ NM_030962.3(SBF2):c.2597C>T (p.Pro866Leu) http://identifiers.org/clinvar/245773 ^@ NM_030962.3(SBF2):c.1804A>G (p.Ile602Val) http://identifiers.org/clinvar/246309 ^@ NM_000431.3(MVK):c.78+7_78+10delAGCC http://identifiers.org/clinvar/246131 ^@ NM_000431.3(MVK):c.624C>T (p.Ser208=) http://identifiers.org/clinvar/245648 ^@ NM_000431.3(MVK):c.789C>G (p.Pro263=) http://identifiers.org/clinvar/246330 ^@ NM_000431.3(MVK):c.876C>T (p.Leu292=) http://identifiers.org/clinvar/246571 ^@ NM_021625.4(TRPV4):c.2560G>A (p.Asp854Asn) http://identifiers.org/clinvar/246488 ^@ NM_021625.4(TRPV4):c.2513C>T (p.Pro838Leu) http://identifiers.org/clinvar/246569 ^@ NM_021625.4(TRPV4):c.2471C>T (p.Ser824Leu) http://identifiers.org/clinvar/245760 ^@ NM_021625.4(TRPV4):c.2452C>T (p.Arg818Cys) http://identifiers.org/clinvar/245675 ^@ NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) http://identifiers.org/clinvar/246188 ^@ NM_021625.4(TRPV4):c.1472A>G (p.Tyr491Cys) http://identifiers.org/clinvar/246534 ^@ NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) http://identifiers.org/clinvar/246542 ^@ NM_021625.4(TRPV4):c.1297G>A (p.Val433Met) http://identifiers.org/clinvar/246073 ^@ NM_021625.4(TRPV4):c.1285G>A (p.Glu429Lys) http://identifiers.org/clinvar/246192 ^@ NM_021625.4(TRPV4):c.1184C>T (p.Thr395Met) http://identifiers.org/clinvar/245915 ^@ NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) http://identifiers.org/clinvar/245783 ^@ NM_021625.4(TRPV4):c.956C>T (p.Ser319Leu) http://identifiers.org/clinvar/245694 ^@ NM_021625.4(TRPV4):c.914C>T (p.Thr305Met) http://identifiers.org/clinvar/245811 ^@ NM_021625.4(TRPV4):c.855G>T (p.Gly285=) http://identifiers.org/clinvar/245938 ^@ NM_021625.4(TRPV4):c.830A>G (p.Asp277Gly) http://identifiers.org/clinvar/246538 ^@ NM_021625.4(TRPV4):c.695G>A (p.Arg232His) http://identifiers.org/clinvar/245674 ^@ NM_021625.4(TRPV4):c.479G>A (p.Arg160Gln) http://identifiers.org/clinvar/246556 ^@ NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) http://identifiers.org/clinvar/245716 ^@ NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) http://identifiers.org/clinvar/246224 ^@ NM_021625.4(TRPV4):c.37G>A (p.Gly13Arg) http://identifiers.org/clinvar/246287 ^@ NM_014365.2(HSPB8):c.412A>G (p.Asn138Asp) http://identifiers.org/clinvar/246130 ^@ NM_006231.3(POLE):c.6831G>T (p.Leu2277=) http://identifiers.org/clinvar/246255 ^@ NM_006231.3(POLE):c.6658-19C>G http://identifiers.org/clinvar/246115 ^@ NM_006231.3(POLE):c.6537_6541delGGCGG (p.Ala2180Profs) http://identifiers.org/clinvar/246197 ^@ NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) http://identifiers.org/clinvar/246397 ^@ NM_006231.3(POLE):c.6086G>A (p.Gly2029Glu) http://identifiers.org/clinvar/246422 ^@ NM_006231.3(POLE):c.5966C>G (p.Ala1989Gly) http://identifiers.org/clinvar/246263 ^@ NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) http://identifiers.org/clinvar/246233 ^@ NM_006231.3(POLE):c.5794C>T (p.Arg1932Cys) http://identifiers.org/clinvar/246386 ^@ NM_006231.3(POLE):c.5792C>T (p.Ser1931Phe) http://identifiers.org/clinvar/246404 ^@ NM_006231.3(POLE):c.5770G>A (p.Gly1924Arg) http://identifiers.org/clinvar/246317 ^@ NM_006231.3(POLE):c.5553-12C>G http://identifiers.org/clinvar/246327 ^@ NM_006231.3(POLE):c.5278G>A (p.Val1760Met) http://identifiers.org/clinvar/246326 ^@ NM_006231.3(POLE):c.5090A>G (p.Lys1697Arg) http://identifiers.org/clinvar/246460 ^@ NM_006231.3(POLE):c.5036G>T (p.Arg1679Leu) http://identifiers.org/clinvar/246313 ^@ NM_006231.3(POLE):c.4244A>G (p.Asn1415Ser) http://identifiers.org/clinvar/246358 ^@ NM_006231.3(POLE):c.4172C>G (p.Ser1391Cys) http://identifiers.org/clinvar/246319 ^@ NM_006231.3(POLE):c.4168C>T (p.Arg1390Cys) http://identifiers.org/clinvar/246311 ^@ NM_006231.3(POLE):c.3808G>A (p.Val1270Ile) http://identifiers.org/clinvar/246318 ^@ NM_006231.3(POLE):c.3230G>A (p.Arg1077His) http://identifiers.org/clinvar/246452 ^@ NM_006231.3(POLE):c.2879A>G (p.Asn960Ser) http://identifiers.org/clinvar/246345 ^@ NM_006231.3(POLE):c.2818A>G (p.Met940Val) http://identifiers.org/clinvar/246203 ^@ NM_006231.3(POLE):c.2225G>A (p.Arg742His) http://identifiers.org/clinvar/246267 ^@ NM_006231.3(POLE):c.1897A>C (p.Asn633His) http://identifiers.org/clinvar/246436 ^@ NM_006231.3(POLE):c.1372T>A (p.Tyr458Asn) http://identifiers.org/clinvar/246471 ^@ NM_006231.3(POLE):c.1303G>A (p.Asp435Asn) http://identifiers.org/clinvar/246477 ^@ NM_006231.3(POLE):c.1184G>A (p.Gly395Glu) http://identifiers.org/clinvar/246396 ^@ NM_006231.3(POLE):c.1147A>G (p.Met383Val) http://identifiers.org/clinvar/246239 ^@ NM_006231.3(POLE):c.1088A>G (p.Asn363Ser) http://identifiers.org/clinvar/246352 ^@ NM_006231.3(POLE):c.823G>C (p.Asp275His) http://identifiers.org/clinvar/246050 ^@ NM_006231.3(POLE):c.461G>A (p.Arg154Lys) http://identifiers.org/clinvar/246430 ^@ NM_006231.3(POLE):c.446A>G (p.Lys149Arg) http://identifiers.org/clinvar/246390 ^@ NM_006231.3(POLE):c.355T>A (p.Phe119Ile) http://identifiers.org/clinvar/246366 ^@ NM_006231.3(POLE):c.347T>C (p.Val116Ala) http://identifiers.org/clinvar/246414 ^@ NM_006231.3(POLE):c.112A>T (p.Ser38Cys) http://identifiers.org/clinvar/246425 ^@ NM_006231.3(POLE):c.73G>A (p.Ala25Thr) http://identifiers.org/clinvar/246154 ^@ NM_006231.3(POLE):c.2T>C (p.Met1Thr) http://identifiers.org/clinvar/246298 ^@ NM_006231.3(POLE):c.-6G>A http://identifiers.org/clinvar/245976 ^@ NM_000834.3(GRIN2B):c.4413G>A (p.Gly1471=) http://identifiers.org/clinvar/245764 ^@ NM_000834.3(GRIN2B):c.4312G>A (p.Val1438Met) http://identifiers.org/clinvar/245624 ^@ NM_000834.3(GRIN2B):c.4311C>T (p.Ala1437=) http://identifiers.org/clinvar/245623 ^@ NM_000834.3(GRIN2B):c.4288G>C (p.Val1430Leu) http://identifiers.org/clinvar/246159 ^@ NM_000834.3(GRIN2B):c.4261T>C (p.Phe1421Leu) http://identifiers.org/clinvar/245959 ^@ NM_000834.3(GRIN2B):c.4142G>A (p.Arg1381Gln) http://identifiers.org/clinvar/245622 ^@ NM_000834.3(GRIN2B):c.4113C>T (p.Tyr1371=) http://identifiers.org/clinvar/246057 ^@ NM_000834.3(GRIN2B):c.3945C>T (p.Ala1315=) http://identifiers.org/clinvar/246384 ^@ NM_000834.3(GRIN2B):c.3883C>T (p.Arg1295Trp) http://identifiers.org/clinvar/245918 ^@ NM_000834.3(GRIN2B):c.3818C>A (p.Thr1273Lys) http://identifiers.org/clinvar/245739 ^@ NM_000834.3(GRIN2B):c.3812C>T (p.Ala1271Val) http://identifiers.org/clinvar/246080 ^@ NM_000834.3(GRIN2B):c.3660C>G (p.Ser1220=) http://identifiers.org/clinvar/245831 ^@ NM_000834.3(GRIN2B):c.3626G>A (p.Arg1209Gln) http://identifiers.org/clinvar/245953 ^@ NM_000834.3(GRIN2B):c.3549G>A (p.Thr1183=) http://identifiers.org/clinvar/245684 ^@ NM_000834.3(GRIN2B):c.3499G>A (p.Val1167Ile) http://identifiers.org/clinvar/246007 ^@ NM_000834.3(GRIN2B):c.3456C>A (p.Thr1152=) http://identifiers.org/clinvar/245688 ^@ NM_000834.3(GRIN2B):c.3389G>A (p.Arg1130Gln) http://identifiers.org/clinvar/246025 ^@ NM_000834.3(GRIN2B):c.3339G>A (p.Pro1113=) http://identifiers.org/clinvar/246336 ^@ NM_000834.3(GRIN2B):c.3195C>A (p.Thr1065=) http://identifiers.org/clinvar/246124 ^@ NM_000834.3(GRIN2B):c.3137G>T (p.Ser1046Ile) http://identifiers.org/clinvar/245621 ^@ NM_000834.3(GRIN2B):c.2703G>A (p.Leu901=) http://identifiers.org/clinvar/246315 ^@ NM_000834.3(GRIN2B):c.2599-19C>A http://identifiers.org/clinvar/245756 ^@ NM_000834.3(GRIN2B):c.2539C>T (p.Arg847Ter) http://identifiers.org/clinvar/246142 ^@ NM_000834.3(GRIN2B):c.2481G>A (p.Ala827=) http://identifiers.org/clinvar/245960 ^@ NM_000834.3(GRIN2B):c.2453T>C (p.Met818Thr) http://identifiers.org/clinvar/245954 ^@ NM_000834.3(GRIN2B):c.2251A>C (p.Ile751Leu) http://identifiers.org/clinvar/245620 ^@ NM_000834.3(GRIN2B):c.2202A>G (p.Ala734=) http://identifiers.org/clinvar/245619 ^@ NM_000834.3(GRIN2B):c.2172-6G>A http://identifiers.org/clinvar/246125 ^@ NM_000834.3(GRIN2B):c.2172-20_2172-17delTTTG http://identifiers.org/clinvar/246462 ^@ NM_000834.3(GRIN2B):c.2017A>C (p.Arg673=) http://identifiers.org/clinvar/245714 ^@ NM_000834.3(GRIN2B):c.1955C>G (p.Ala652Gly) http://identifiers.org/clinvar/245786 ^@ NM_000834.3(GRIN2B):c.1946A>C (p.Asn649Thr) http://identifiers.org/clinvar/245618 ^@ NM_000834.3(GRIN2B):c.1780+9G>A http://identifiers.org/clinvar/246489 ^@ NM_000834.3(GRIN2B):c.1655-12dupT http://identifiers.org/clinvar/245617 ^@ NM_000834.3(GRIN2B):c.1501-13G>A http://identifiers.org/clinvar/245616 ^@ NM_000834.3(GRIN2B):c.1328+17A>G http://identifiers.org/clinvar/245615 ^@ NM_000834.3(GRIN2B):c.1125G>A (p.Arg375=) http://identifiers.org/clinvar/246455 ^@ NM_000834.3(GRIN2B):c.1038G>A (p.Gly346=) http://identifiers.org/clinvar/245708 ^@ NM_000834.3(GRIN2B):c.1035G>A (p.Glu345=) http://identifiers.org/clinvar/245614 ^@ NM_000834.3(GRIN2B):c.1020C>T (p.Ile340=) http://identifiers.org/clinvar/246418 ^@ NM_000834.3(GRIN2B):c.412-14T>C http://identifiers.org/clinvar/245940 ^@ NM_000834.3(GRIN2B):c.377T>C (p.Ile126Thr) http://identifiers.org/clinvar/246441 ^@ NM_000834.3(GRIN2B):c.327C>G (p.Ala109=) http://identifiers.org/clinvar/246440 ^@ NM_000834.3(GRIN2B):c.325G>T (p.Ala109Ser) http://identifiers.org/clinvar/245610 ^@ NM_000834.3(GRIN2B):c.99C>A (p.Pro33=) http://identifiers.org/clinvar/246426 ^@ NM_000834.3(GRIN2B):c.-12G>A http://identifiers.org/clinvar/246146 ^@ NM_139241.3(FGD4):c.50C>G (p.Pro17Arg) http://identifiers.org/clinvar/245857 ^@ NM_139241.3(FGD4):c.381A>G (p.Ile127Met) http://identifiers.org/clinvar/245601 ^@ NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) http://identifiers.org/clinvar/245808 ^@ NM_139241.3(FGD4):c.484G>C (p.Gly162Arg) http://identifiers.org/clinvar/245858 ^@ NM_139241.3(FGD4):c.569T>A (p.Leu190Gln) http://identifiers.org/clinvar/245919 ^@ NM_139241.3(FGD4):c.1278A>C (p.Glu426Asp) http://identifiers.org/clinvar/245800 ^@ NM_139241.3(FGD4):c.1348A>G (p.Met450Val) http://identifiers.org/clinvar/246288 ^@ NM_139241.3(FGD4):c.1711C>G (p.Pro571Ala) http://identifiers.org/clinvar/245723 ^@ NM_139241.3(FGD4):c.1712C>A (p.Pro571His) http://identifiers.org/clinvar/246507 ^@ NM_004984.2(KIF5A):c.598G>A (p.Glu200Lys) http://identifiers.org/clinvar/246530 ^@ NM_004984.2(KIF5A):c.1283T>G (p.Leu428Arg) http://identifiers.org/clinvar/246513 ^@ NM_004984.2(KIF5A):c.2006C>A (p.Ala669Asp) http://identifiers.org/clinvar/246529 ^@ NM_004984.2(KIF5A):c.2162T>G (p.Ile721Ser) http://identifiers.org/clinvar/246566 ^@ NM_004984.2(KIF5A):c.2174A>C (p.Gln725Pro) http://identifiers.org/clinvar/246400 ^@ NM_000075.3(CDK4):c.898G>A (p.Gly300Ser) http://identifiers.org/clinvar/246278 ^@ NM_000075.3(CDK4):c.863G>A (p.Arg288Gln) http://identifiers.org/clinvar/246297 ^@ NM_000075.3(CDK4):c.133G>T (p.Gly45Cys) http://identifiers.org/clinvar/246439 ^@ NM_001065.3(TNFRSF1A):c.1058-4G>A http://identifiers.org/clinvar/245672 ^@ NM_001065.3(TNFRSF1A):c.987C>T (p.Leu329=) http://identifiers.org/clinvar/245671 ^@ NM_001065.3(TNFRSF1A):c.224C>T (p.Pro75Leu) http://identifiers.org/clinvar/245670 ^@ NM_001065.3(TNFRSF1A):c.40-9C>A http://identifiers.org/clinvar/246554 ^@ NM_213655.4(WNK1):c.2398C>T (p.Gln800Ter) http://identifiers.org/clinvar/245939 ^@ NM_213655.4(WNK1):c.2605C>A (p.Leu869Ile) http://identifiers.org/clinvar/245846 ^@ NM_213655.4(WNK1):c.2966A>G (p.Gln989Arg) http://identifiers.org/clinvar/246150 ^@ NM_000059.3(BRCA2):c.2045delT (p.Ile682Thrfs) http://identifiers.org/clinvar/246127 ^@ NM_000059.3(BRCA2):c.2677delC (p.Gln893Lysfs) http://identifiers.org/clinvar/246140 ^@ NM_000059.3(BRCA2):c.3098A>T (p.Asp1033Val) http://identifiers.org/clinvar/246043 ^@ NM_000059.3(BRCA2):c.3417G>T (p.Lys1139Asn) http://identifiers.org/clinvar/246157 ^@ NM_000059.3(BRCA2):c.3653G>C (p.Gly1218Ala) http://identifiers.org/clinvar/246051 ^@ NM_000059.3(BRCA2):c.3970T>C (p.Tyr1324His) http://identifiers.org/clinvar/246055 ^@ NM_000059.3(BRCA2):c.4579G>A (p.Ala1527Thr) http://identifiers.org/clinvar/246173 ^@ NM_000059.3(BRCA2):c.4594_4598delGTTAA (p.Val1532Asnfs) http://identifiers.org/clinvar/246111 ^@ NM_000059.3(BRCA2):c.4835C>T (p.Pro1612Leu) http://identifiers.org/clinvar/246259 ^@ NM_000059.3(BRCA2):c.4927G>A (p.Val1643Ile) http://identifiers.org/clinvar/246151 ^@ NM_000059.3(BRCA2):c.5110_5113delAGAA (p.Arg1704Terfs) http://identifiers.org/clinvar/246172 ^@ NM_000059.3(BRCA2):c.6418G>A (p.Gly2140Ser) http://identifiers.org/clinvar/245827 ^@ NM_000059.3(BRCA2):c.6762delT (p.Phe2254Leufs) http://identifiers.org/clinvar/246251 ^@ NM_000059.3(BRCA2):c.7617+1G>C http://identifiers.org/clinvar/246104 ^@ NM_000059.3(BRCA2):c.9898C>T (p.Pro3300Ser) http://identifiers.org/clinvar/246484 ^@ NM_001376.4(DYNC1H1):c.256+5G>C http://identifiers.org/clinvar/246523 ^@ NM_001376.4(DYNC1H1):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/245868 ^@ NM_001376.4(DYNC1H1):c.751C>G (p.Arg251Gly) http://identifiers.org/clinvar/246457 ^@ NM_001376.4(DYNC1H1):c.1013A>T (p.Asp338Val) http://identifiers.org/clinvar/246540 ^@ NM_001376.4(DYNC1H1):c.1276G>A (p.Glu426Lys) http://identifiers.org/clinvar/246470 ^@ NM_001376.4(DYNC1H1):c.1454G>A (p.Arg485Lys) http://identifiers.org/clinvar/246081 ^@ NM_001376.4(DYNC1H1):c.1793G>T (p.Arg598Leu) http://identifiers.org/clinvar/245996 ^@ NM_001376.4(DYNC1H1):c.3121A>G (p.Met1041Val) http://identifiers.org/clinvar/246228 ^@ NM_001376.4(DYNC1H1):c.3370C>T (p.His1124Tyr) http://identifiers.org/clinvar/246027 ^@ NM_001376.4(DYNC1H1):c.3704A>G (p.Gln1235Arg) http://identifiers.org/clinvar/245814 ^@ NM_001376.4(DYNC1H1):c.3781T>C (p.Trp1261Arg) http://identifiers.org/clinvar/246361 ^@ NM_001376.4(DYNC1H1):c.4510G>A (p.Val1504Ile) http://identifiers.org/clinvar/246342 ^@ NM_001376.4(DYNC1H1):c.4580T>C (p.Leu1527Pro) http://identifiers.org/clinvar/246128 ^@ NM_001376.4(DYNC1H1):c.4741A>G (p.Lys1581Glu) http://identifiers.org/clinvar/245936 ^@ NM_001376.4(DYNC1H1):c.5074A>G (p.Ile1692Val) http://identifiers.org/clinvar/245763 ^@ NM_001376.4(DYNC1H1):c.5422C>A (p.Leu1808Ile) http://identifiers.org/clinvar/245597 ^@ NM_001376.4(DYNC1H1):c.5884C>T (p.Arg1962Cys) http://identifiers.org/clinvar/245963 ^@ NM_001376.4(DYNC1H1):c.7072C>T (p.Arg2358Cys) http://identifiers.org/clinvar/246515 ^@ NM_001376.4(DYNC1H1):c.7127A>G (p.Asn2376Ser) http://identifiers.org/clinvar/246307 ^@ NM_001376.4(DYNC1H1):c.7138G>A (p.Ala2380Thr) http://identifiers.org/clinvar/246234 ^@ NM_001376.4(DYNC1H1):c.7420G>A (p.Ala2474Thr) http://identifiers.org/clinvar/245913 ^@ NM_001376.4(DYNC1H1):c.7570G>A (p.Val2524Met) http://identifiers.org/clinvar/245840 ^@ NM_001376.4(DYNC1H1):c.7793G>T (p.Gly2598Val) http://identifiers.org/clinvar/245719 ^@ NM_001376.4(DYNC1H1):c.8255A>G (p.Asn2752Ser) http://identifiers.org/clinvar/246499 ^@ NM_001376.4(DYNC1H1):c.8442G>C (p.Glu2814Asp) http://identifiers.org/clinvar/245876 ^@ NM_001376.4(DYNC1H1):c.8843G>A (p.Arg2948His) http://identifiers.org/clinvar/246236 ^@ NM_001376.4(DYNC1H1):c.9049G>A (p.Val3017Met) http://identifiers.org/clinvar/245807 ^@ NM_001376.4(DYNC1H1):c.9092C>T (p.Thr3031Met) http://identifiers.org/clinvar/246376 ^@ NM_001376.4(DYNC1H1):c.9178C>T (p.Arg3060Cys) http://identifiers.org/clinvar/246442 ^@ NM_001376.4(DYNC1H1):c.9333T>A (p.Ser3111Arg) http://identifiers.org/clinvar/246393 ^@ NM_001376.4(DYNC1H1):c.10420C>T (p.Arg3474Trp) http://identifiers.org/clinvar/246514 ^@ NM_001376.4(DYNC1H1):c.10743A>C (p.Lys3581Asn) http://identifiers.org/clinvar/245988 ^@ NM_001376.4(DYNC1H1):c.11776G>C (p.Gly3926Arg) http://identifiers.org/clinvar/245945 ^@ NM_001376.4(DYNC1H1):c.11863G>A (p.Glu3955Lys) http://identifiers.org/clinvar/245966 ^@ NM_001376.4(DYNC1H1):c.11897C>G (p.Pro3966Arg) http://identifiers.org/clinvar/246573 ^@ NM_001376.4(DYNC1H1):c.11906C>A (p.Thr3969Asn) http://identifiers.org/clinvar/246112 ^@ NM_001376.4(DYNC1H1):c.11995G>A (p.Asp3999Asn) http://identifiers.org/clinvar/246549 ^@ NM_001376.4(DYNC1H1):c.12071C>T (p.Pro4024Leu) http://identifiers.org/clinvar/245962 ^@ NM_001376.4(DYNC1H1):c.12589G>A (p.Ala4197Thr) http://identifiers.org/clinvar/245949 ^@ NM_001376.4(DYNC1H1):c.12853G>T (p.Ala4285Ser) http://identifiers.org/clinvar/246600 ^@ NM_001376.4(DYNC1H1):c.13042A>C (p.Met4348Leu) http://identifiers.org/clinvar/246279 ^@ NM_001376.4(DYNC1H1):c.13072G>A (p.Ala4358Thr) http://identifiers.org/clinvar/245701 ^@ NM_001376.4(DYNC1H1):c.13196A>G (p.Lys4399Arg) http://identifiers.org/clinvar/246351 ^@ NM_001376.4(DYNC1H1):c.13199G>A (p.Arg4400His) http://identifiers.org/clinvar/245792 ^@ NM_001376.4(DYNC1H1):c.13286A>G (p.Gln4429Arg) http://identifiers.org/clinvar/245797 ^@ NM_001376.4(DYNC1H1):c.13315G>A (p.Glu4439Lys) http://identifiers.org/clinvar/245718 ^@ NM_001376.4(DYNC1H1):c.13384C>T (p.Arg4462Trp) http://identifiers.org/clinvar/246032 ^@ NM_001376.4(DYNC1H1):c.13385G>A (p.Arg4462Gln) http://identifiers.org/clinvar/245887 ^@ NM_001376.4(DYNC1H1):c.13667G>A (p.Cys4556Tyr) http://identifiers.org/clinvar/246487 ^@ NM_001376.4(DYNC1H1):c.13855A>G (p.Ile4619Val) http://identifiers.org/clinvar/246272 ^@ NM_022489.3(INF2):c.67T>A (p.Ser23Thr) http://identifiers.org/clinvar/246490 ^@ NM_022489.3(INF2):c.1115C>T (p.Ser372Phe) http://identifiers.org/clinvar/245865 ^@ NM_022489.3(INF2):c.1183G>A (p.Glu395Lys) http://identifiers.org/clinvar/246526 ^@ NM_022489.3(INF2):c.1360C>T (p.Leu454Phe) http://identifiers.org/clinvar/246582 ^@ NM_022489.3(INF2):c.1589delT (p.Val530Glyfs) http://identifiers.org/clinvar/246561 ^@ NM_022489.3(INF2):c.1666C>T (p.Arg556Trp) http://identifiers.org/clinvar/246261 ^@ NM_022489.3(INF2):c.2005G>A (p.Val669Met) http://identifiers.org/clinvar/246262 ^@ NM_022489.3(INF2):c.2726C>A (p.Thr909Lys) http://identifiers.org/clinvar/246545 ^@ NM_022489.3(INF2):c.2879-20G>C http://identifiers.org/clinvar/246525 ^@ NM_022489.3(INF2):c.2897A>G (p.Lys966Arg) http://identifiers.org/clinvar/245863 ^@ NM_022489.3(INF2):c.3221G>A (p.Arg1074Lys) http://identifiers.org/clinvar/245793 ^@ NM_015915.4(ATL1):c.416A>G (p.Lys139Arg) http://identifiers.org/clinvar/245796 ^@ NM_004863.3(SPTLC2):c.1304G>T (p.Gly435Val) http://identifiers.org/clinvar/245925 ^@ NM_004863.3(SPTLC2):c.768T>G (p.Ile256Met) http://identifiers.org/clinvar/246030 ^@ NM_004863.3(SPTLC2):c.508G>C (p.Val170Leu) http://identifiers.org/clinvar/246015 ^@ NM_133647.1(SLC12A6):c.2855A>G (p.Asn952Ser) http://identifiers.org/clinvar/245829 ^@ NM_133647.1(SLC12A6):c.1939T>C (p.Ser647Pro) http://identifiers.org/clinvar/246284 ^@ NM_133647.1(SLC12A6):c.958G>A (p.Val320Ile) http://identifiers.org/clinvar/246541 ^@ NM_133647.1(SLC12A6):c.338G>A (p.Arg113Gln) http://identifiers.org/clinvar/246144 ^@ NM_003978.4(PSTPIP1):c.37-5C>T http://identifiers.org/clinvar/245664 ^@ NM_003978.4(PSTPIP1):c.138-6T>C http://identifiers.org/clinvar/245676 ^@ NM_003978.4(PSTPIP1):c.138-5dupT http://identifiers.org/clinvar/246329 ^@ NM_003978.4(PSTPIP1):c.355-16C>G http://identifiers.org/clinvar/245665 ^@ NM_003978.4(PSTPIP1):c.418-20A>G http://identifiers.org/clinvar/246145 ^@ NM_003978.4(PSTPIP1):c.558G>A (p.Glu186=) http://identifiers.org/clinvar/245666 ^@ NM_003978.4(PSTPIP1):c.564G>A (p.Glu188=) http://identifiers.org/clinvar/245929 ^@ NM_003978.4(PSTPIP1):c.643-13C>A http://identifiers.org/clinvar/245667 ^@ NM_003978.4(PSTPIP1):c.657A>C (p.Gln219His) http://identifiers.org/clinvar/246332 ^@ NM_003978.4(PSTPIP1):c.882G>A (p.Pro294=) http://identifiers.org/clinvar/245668 ^@ NM_003978.4(PSTPIP1):c.1014C>T (p.Pro338=) http://identifiers.org/clinvar/245930 ^@ NM_003978.4(PSTPIP1):c.1221C>A (p.Phe407Leu) http://identifiers.org/clinvar/245638 ^@ NM_004862.3(LITAF):c.478C>T (p.Arg160Cys) http://identifiers.org/clinvar/246593 ^@ NM_004862.3(LITAF):c.388G>A (p.Gly130Ser) http://identifiers.org/clinvar/245794 ^@ NM_004862.3(LITAF):c.251C>T (p.Pro84Leu) http://identifiers.org/clinvar/245923 ^@ NM_004862.3(LITAF):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/246354 ^@ NM_024675.3(PALB2):c.3492G>A (p.Trp1164Ter) http://identifiers.org/clinvar/246129 ^@ NM_024675.3(PALB2):c.3491G>A (p.Trp1164Ter) http://identifiers.org/clinvar/246373 ^@ NM_024675.3(PALB2):c.3436C>G (p.Gln1146Glu) http://identifiers.org/clinvar/245984 ^@ NM_024675.3(PALB2):c.3436C>A (p.Gln1146Lys) http://identifiers.org/clinvar/246042 ^@ NM_024675.3(PALB2):c.3239_3240delAA (p.Lys1080Argfs) http://identifiers.org/clinvar/246099 ^@ NM_024675.3(PALB2):c.3201+5_3201+8delGTAA http://identifiers.org/clinvar/246209 ^@ NM_024675.3(PALB2):c.3047T>G (p.Phe1016Cys) http://identifiers.org/clinvar/246461 ^@ NM_024675.3(PALB2):c.3014T>C (p.Phe1005Ser) http://identifiers.org/clinvar/246286 ^@ NM_024675.3(PALB2):c.2996+5G>T http://identifiers.org/clinvar/245892 ^@ NM_024675.3(PALB2):c.2961dupA (p.Gln988Thrfs) http://identifiers.org/clinvar/245957 ^@ NM_024675.3(PALB2):c.2860G>T (p.Glu954Ter) http://identifiers.org/clinvar/246052 ^@ NM_024675.3(PALB2):c.2444C>T (p.Ser815Leu) http://identifiers.org/clinvar/246424 ^@ NM_024675.3(PALB2):c.2435C>T (p.Pro812Leu) http://identifiers.org/clinvar/245658 ^@ NM_024675.3(PALB2):c.2342G>A (p.Ser781Asn) http://identifiers.org/clinvar/245890 ^@ NM_024675.3(PALB2):c.2267_2283dup17 (p.His762Alafs) http://identifiers.org/clinvar/246252 ^@ NM_024675.3(PALB2):c.2204C>T (p.Pro735Leu) http://identifiers.org/clinvar/246024 ^@ NM_024675.3(PALB2):c.2197A>G (p.Thr733Ala) http://identifiers.org/clinvar/245657 ^@ NM_024675.3(PALB2):c.2148T>A (p.Asn716Lys) http://identifiers.org/clinvar/246056 ^@ NM_024675.3(PALB2):c.2066C>A (p.Ser689Ter) http://identifiers.org/clinvar/245754 ^@ NM_024675.3(PALB2):c.2053A>C (p.Lys685Gln) http://identifiers.org/clinvar/245656 ^@ NM_024675.3(PALB2):c.1861C>A (p.Pro621Thr) http://identifiers.org/clinvar/245702 ^@ NM_024675.3(PALB2):c.1727G>A (p.Ser576Asn) http://identifiers.org/clinvar/246149 ^@ NM_024675.3(PALB2):c.1714delT (p.Ser572Profs) http://identifiers.org/clinvar/246365 ^@ NM_024675.3(PALB2):c.1655A>G (p.Gln552Arg) http://identifiers.org/clinvar/246475 ^@ NM_024675.3(PALB2):c.1570_1571delTC (p.Ser524Argfs) http://identifiers.org/clinvar/245655 ^@ NM_024675.3(PALB2):c.1538delC (p.Thr513Lysfs) http://identifiers.org/clinvar/245813 ^@ NM_024675.3(PALB2):c.1467_1468delTC (p.Pro490Argfs) http://identifiers.org/clinvar/246417 ^@ NM_024675.3(PALB2):c.1294C>T (p.His432Tyr) http://identifiers.org/clinvar/246408 ^@ NM_024675.3(PALB2):c.1256G>T (p.Cys419Phe) http://identifiers.org/clinvar/246419 ^@ NM_024675.3(PALB2):c.1189A>G (p.Thr397Ala) http://identifiers.org/clinvar/245749 ^@ NM_024675.3(PALB2):c.668T>C (p.Ile223Thr) http://identifiers.org/clinvar/246502 ^@ NM_024675.3(PALB2):c.616C>T (p.Leu206Phe) http://identifiers.org/clinvar/246291 ^@ NM_024675.3(PALB2):c.472C>T (p.Gln158Ter) http://identifiers.org/clinvar/246217 ^@ NM_024675.3(PALB2):c.398G>A (p.Ser133Asn) http://identifiers.org/clinvar/245654 ^@ NM_024675.3(PALB2):c.205C>T (p.His69Tyr) http://identifiers.org/clinvar/246458 ^@ NM_024675.3(PALB2):c.155T>C (p.Val52Ala) http://identifiers.org/clinvar/246045 ^@ NM_024675.3(PALB2):c.12dupT (p.Pro5Serfs) http://identifiers.org/clinvar/246182 ^@ NM_024675.3(PALB2):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/245713 ^@ NM_000243.2(MEFV):c.1793-16C>G http://identifiers.org/clinvar/246350 ^@ NM_000243.2(MEFV):c.1767G>A (p.Glu589=) http://identifiers.org/clinvar/245680 ^@ NM_000243.2(MEFV):c.277+13A>G http://identifiers.org/clinvar/246598 ^@ NM_001605.2(AARS):c.2738G>A (p.Gly913Asp) http://identifiers.org/clinvar/246012 ^@ NM_001605.2(AARS):c.2552G>A (p.Ser851Asn) http://identifiers.org/clinvar/246148 ^@ NM_001605.2(AARS):c.2222C>T (p.Thr741Met) http://identifiers.org/clinvar/246064 ^@ NM_001605.2(AARS):c.2207C>T (p.Ala736Val) http://identifiers.org/clinvar/246063 ^@ NM_001605.2(AARS):c.2186G>A (p.Arg729Gln) http://identifiers.org/clinvar/245833 ^@ NM_001605.2(AARS):c.1664G>T (p.Ser555Ile) http://identifiers.org/clinvar/246158 ^@ NM_001605.2(AARS):c.1481G>T (p.Ser494Ile) http://identifiers.org/clinvar/246189 ^@ NM_001605.2(AARS):c.1408A>T (p.Ile470Phe) http://identifiers.org/clinvar/246153 ^@ NM_001605.2(AARS):c.1367G>T (p.Gly456Val) http://identifiers.org/clinvar/246399 ^@ NM_001605.2(AARS):c.1222G>A (p.Gly408Arg) http://identifiers.org/clinvar/246273 ^@ NM_001605.2(AARS):c.1108A>G (p.Met370Val) http://identifiers.org/clinvar/246516 ^@ NM_001605.2(AARS):c.1067C>T (p.Ser356Phe) http://identifiers.org/clinvar/246519 ^@ NM_001605.2(AARS):c.1003G>A (p.Ala335Thr) http://identifiers.org/clinvar/246521 ^@ NM_001605.2(AARS):c.917C>T (p.Thr306Ile) http://identifiers.org/clinvar/246223 ^@ NM_001605.2(AARS):c.823G>A (p.Gly275Ser) http://identifiers.org/clinvar/245983 ^@ NM_001605.2(AARS):c.518A>G (p.Asp173Gly) http://identifiers.org/clinvar/246443 ^@ NM_001605.2(AARS):c.403G>A (p.Val135Ile) http://identifiers.org/clinvar/246216 ^@ NM_001605.2(AARS):c.385C>G (p.Pro129Ala) http://identifiers.org/clinvar/246244 ^@ NM_001605.2(AARS):c.383T>C (p.Ile128Thr) http://identifiers.org/clinvar/245832 ^@ NM_001605.2(AARS):c.355C>G (p.Leu119Val) http://identifiers.org/clinvar/246432 ^@ NM_001605.2(AARS):c.95T>C (p.Ile32Thr) http://identifiers.org/clinvar/245992 ^@ NM_022041.3(GAN):c.413G>T (p.Arg138Leu) http://identifiers.org/clinvar/246037 ^@ NM_022041.3(GAN):c.565G>T (p.Val189Phe) http://identifiers.org/clinvar/245920 ^@ NM_022041.3(GAN):c.633+2T>C http://identifiers.org/clinvar/246282 ^@ NM_022041.3(GAN):c.851+1G>A http://identifiers.org/clinvar/245843 ^@ NM_022041.3(GAN):c.944C>T (p.Pro315Leu) http://identifiers.org/clinvar/245921 ^@ NM_022041.3(GAN):c.1241G>A (p.Gly414Asp) http://identifiers.org/clinvar/246242 ^@ NM_022041.3(GAN):c.1259A>C (p.Lys420Thr) http://identifiers.org/clinvar/245810 ^@ NM_022041.3(GAN):c.1628A>G (p.Tyr543Cys) http://identifiers.org/clinvar/245805 ^@ NM_000304.3(PMP22):c.449G>A (p.Gly150Asp) http://identifiers.org/clinvar/245669 ^@ NM_002878.3(RAD51D):c.823C>T (p.Arg275Trp) http://identifiers.org/clinvar/246302 ^@ NM_002878.3(RAD51D):c.767A>C (p.Asp256Ala) http://identifiers.org/clinvar/246346 ^@ NM_002878.3(RAD51D):c.295A>G (p.Thr99Ala) http://identifiers.org/clinvar/246518 ^@ NM_007294.3(BRCA1):c.5571G>T (p.Gln1857His) http://identifiers.org/clinvar/246134 ^@ NM_007294.3(BRCA1):c.5368delT (p.Ser1790Leufs) http://identifiers.org/clinvar/246175 ^@ NM_007294.3(BRCA1):c.5327C>A (p.Pro1776His) http://identifiers.org/clinvar/245901 ^@ NM_007294.3(BRCA1):c.5249delA (p.Lys1750Serfs) http://identifiers.org/clinvar/246200 ^@ NM_007294.3(BRCA1):c.5172A>C (p.Lys1724Asn) http://identifiers.org/clinvar/245993 ^@ NM_007294.3(BRCA1):c.5155G>T (p.Val1719Leu) http://identifiers.org/clinvar/246021 ^@ NM_007294.3(BRCA1):c.5054_5057dupCTCA (p.Val1687Serfs) http://identifiers.org/clinvar/246100 ^@ NM_007294.3(BRCA1):c.4986+4A>G http://identifiers.org/clinvar/246002 ^@ NM_007294.3(BRCA1):c.4951T>C (p.Ser1651Pro) http://identifiers.org/clinvar/245717 ^@ NM_007294.3(BRCA1):c.4852C>A (p.His1618Asn) http://identifiers.org/clinvar/246219 ^@ NM_007294.3(BRCA1):c.4682C>A (p.Thr1561Asn) http://identifiers.org/clinvar/246501 ^@ NM_007294.3(BRCA1):c.4485-1G>T http://identifiers.org/clinvar/245697 ^@ NM_007294.3(BRCA1):c.4484G>C (p.Arg1495Thr) http://identifiers.org/clinvar/246517 ^@ NM_007294.3(BRCA1):c.4253T>C (p.Leu1418Ser) http://identifiers.org/clinvar/245779 ^@ NM_007294.3(BRCA1):c.4241T>G (p.Leu1414Arg) http://identifiers.org/clinvar/245679 ^@ NM_007294.3(BRCA1):c.4099G>A (p.Glu1367Lys) http://identifiers.org/clinvar/246375 ^@ NM_007294.3(BRCA1):c.4055A>T (p.Glu1352Val) http://identifiers.org/clinvar/245990 ^@ NM_007294.3(BRCA1):c.3893C>T (p.Ser1298Leu) http://identifiers.org/clinvar/246072 ^@ NM_007294.3(BRCA1):c.3752G>A (p.Cys1251Tyr) http://identifiers.org/clinvar/245968 ^@ NM_007294.3(BRCA1):c.3675C>A (p.Cys1225Ter) http://identifiers.org/clinvar/245941 ^@ NM_007294.3(BRCA1):c.3250C>A (p.Leu1084Ile) http://identifiers.org/clinvar/246204 ^@ NM_007294.3(BRCA1):c.3206A>C (p.Gln1069Pro) http://identifiers.org/clinvar/246006 ^@ NM_007294.3(BRCA1):c.2897T>C (p.Ile966Thr) http://identifiers.org/clinvar/245974 ^@ NM_007294.3(BRCA1):c.2890G>A (p.Gly964Arg) http://identifiers.org/clinvar/246160 ^@ NM_007294.3(BRCA1):c.2882A>G (p.Asn961Ser) http://identifiers.org/clinvar/246174 ^@ NM_007294.3(BRCA1):c.2865A>T (p.Ser955=) http://identifiers.org/clinvar/245696 ^@ NM_007294.3(BRCA1):c.2693_2694dupAA (p.Val899Lysfs) http://identifiers.org/clinvar/245978 ^@ NM_007294.3(BRCA1):c.2644T>A (p.Cys882Ser) http://identifiers.org/clinvar/246230 ^@ NM_007294.3(BRCA1):c.2018_2023delAACCTG (p.Glu673_Pro674del) http://identifiers.org/clinvar/246392 ^@ NM_007294.3(BRCA1):c.1763_1764delGC (p.Ser588Lysfs) http://identifiers.org/clinvar/245965 ^@ NM_007294.3(BRCA1):c.1709C>A (p.Pro570Gln) http://identifiers.org/clinvar/245690 ^@ NM_007294.3(BRCA1):c.1574T>C (p.Val525Ala) http://identifiers.org/clinvar/246451 ^@ NM_007294.3(BRCA1):c.1514A>G (p.Lys505Arg) http://identifiers.org/clinvar/245916 ^@ NM_007294.3(BRCA1):c.1374C>A (p.Asp458Glu) http://identifiers.org/clinvar/246448 ^@ NM_007294.3(BRCA1):c.1228G>A (p.Ala410Thr) http://identifiers.org/clinvar/245678 ^@ NM_007294.3(BRCA1):c.548-15G>A http://identifiers.org/clinvar/246360 ^@ NM_007294.3(BRCA1):c.516delA (p.Gln172Hisfs) http://identifiers.org/clinvar/246362 ^@ NM_007294.3(BRCA1):c.442-22_442-13delTGTTCTTTAC http://identifiers.org/clinvar/246510 ^@ NM_007294.3(BRCA1):c.301+1G>T http://identifiers.org/clinvar/245755 ^@ NM_007294.3(BRCA1):c.135-1G>A http://identifiers.org/clinvar/245973 ^@ NM_007294.3(BRCA1):c.32T>G (p.Val11Gly) http://identifiers.org/clinvar/243118 ^@ NM_007294.3(BRCA1):c.22G>A (p.Val8Ile) http://identifiers.org/clinvar/246265 ^@ NM_007294.3(BRCA1):c.-19-17_-19-13delTTTCTinsAA http://identifiers.org/clinvar/246163 ^@ NM_058216.2(RAD51C):c.121G>C (p.Val41Leu) http://identifiers.org/clinvar/246164 ^@ NM_058216.2(RAD51C):c.135G>C (p.Glu45Asp) http://identifiers.org/clinvar/246222 ^@ NM_058216.2(RAD51C):c.382G>C (p.Gly128Arg) http://identifiers.org/clinvar/246338 ^@ NM_058216.2(RAD51C):c.571+1G>T http://identifiers.org/clinvar/246254 ^@ NM_058216.2(RAD51C):c.869T>C (p.Ile290Thr) http://identifiers.org/clinvar/245991 ^@ NM_058216.2(RAD51C):c.905-2A>G http://identifiers.org/clinvar/245980 ^@ NM_000546.5(TP53):c.*16G>T http://identifiers.org/clinvar/246221 ^@ NM_000546.5(TP53):c.1136G>A (p.Arg379His) http://identifiers.org/clinvar/246069 ^@ NM_000546.5(TP53):c.981T>G (p.Tyr327Ter) http://identifiers.org/clinvar/245777 ^@ NM_000546.5(TP53):c.794T>C (p.Leu265Pro) http://identifiers.org/clinvar/245698 ^@ NM_000546.5(TP53):c.785delG (p.Gly262Valfs) http://identifiers.org/clinvar/246388 ^@ NM_000546.5(TP53):c.698A>G (p.His233Arg) http://identifiers.org/clinvar/245673 ^@ NM_000546.5(TP53):c.655C>T (p.Pro219Ser) http://identifiers.org/clinvar/245711 ^@ NM_000546.5(TP53):c.538G>A (p.Glu180Lys) http://identifiers.org/clinvar/245851 ^@ NM_000546.5(TP53):c.523C>T (p.Arg175Cys) http://identifiers.org/clinvar/246416 ^@ NM_000546.5(TP53):c.490A>G (p.Lys164Glu) http://identifiers.org/clinvar/246118 ^@ NM_000546.5(TP53):c.473G>C (p.Arg158Pro) http://identifiers.org/clinvar/246343 ^@ NM_000546.5(TP53):c.393_395delCAA (p.Asn131del) http://identifiers.org/clinvar/246429 ^@ NM_000546.5(TP53):c.393C>A (p.Asn131Lys) http://identifiers.org/clinvar/246049 ^@ NM_000546.5(TP53):c.134T>C (p.Leu45Pro) http://identifiers.org/clinvar/246337 ^@ NM_000546.5(TP53):c.97-2A>G http://identifiers.org/clinvar/246194 ^@ NM_000546.5(TP53):c.-42C>T http://identifiers.org/clinvar/245643 ^@ NM_014646.2(LPIN2):c.2610C>T (p.Ser870=) http://identifiers.org/clinvar/245642 ^@ NM_014646.2(LPIN2):c.2547-11C>T http://identifiers.org/clinvar/246269 ^@ NM_014646.2(LPIN2):c.2443-14A>G http://identifiers.org/clinvar/246320 ^@ NM_014646.2(LPIN2):c.2088-7T>G http://identifiers.org/clinvar/246349 ^@ NM_014646.2(LPIN2):c.1939-5A>G http://identifiers.org/clinvar/245641 ^@ NM_014646.2(LPIN2):c.1867C>T (p.Pro623Ser) http://identifiers.org/clinvar/246270 ^@ NM_014646.2(LPIN2):c.1812C>A (p.Ser604=) http://identifiers.org/clinvar/246139 ^@ NM_014646.2(LPIN2):c.1621-18C>G http://identifiers.org/clinvar/245640 ^@ NM_014646.2(LPIN2):c.289-16C>T http://identifiers.org/clinvar/245725 ^@ NM_000371.3(TTR):c.25C>T (p.Leu9Phe) http://identifiers.org/clinvar/246463 ^@ NM_000371.3(TTR):c.122G>A (p.Arg41Gln) http://identifiers.org/clinvar/246201 ^@ NM_000371.3(TTR):c.136A>G (p.Ile46Val) http://identifiers.org/clinvar/246220 ^@ NM_005359.5(SMAD4):c.749A>G (p.Gln250Arg) http://identifiers.org/clinvar/245952 ^@ NM_005359.5(SMAD4):c.904+14T>C http://identifiers.org/clinvar/246060 ^@ NM_001130823.2(DNMT1):c.4876G>A (p.Glu1626Lys) http://identifiers.org/clinvar/245911 ^@ NM_001130823.2(DNMT1):c.4001C>T (p.Ala1334Val) http://identifiers.org/clinvar/246040 ^@ NM_001130823.2(DNMT1):c.3353A>G (p.His1118Arg) http://identifiers.org/clinvar/246281 ^@ NM_001130823.2(DNMT1):c.2693C>T (p.Thr898Ile) http://identifiers.org/clinvar/245596 ^@ NM_001130823.2(DNMT1):c.2689A>G (p.Lys897Glu) http://identifiers.org/clinvar/246584 ^@ NM_001130823.2(DNMT1):c.2315C>A (p.Thr772Asn) http://identifiers.org/clinvar/245803 ^@ NM_001130823.2(DNMT1):c.1743_1746delCGAG (p.Asp581Glufs) http://identifiers.org/clinvar/246059 ^@ NM_001130823.2(DNMT1):c.868G>A (p.Glu290Lys) http://identifiers.org/clinvar/246280 ^@ NM_001130823.2(DNMT1):c.575C>T (p.Ala192Val) http://identifiers.org/clinvar/246583 ^@ NM_001130823.2(DNMT1):c.382C>A (p.Pro128Thr) http://identifiers.org/clinvar/246305 ^@ NM_001130823.2(DNMT1):c.341G>A (p.Arg114Lys) http://identifiers.org/clinvar/246522 ^@ NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) http://identifiers.org/clinvar/246310 ^@ NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) http://identifiers.org/clinvar/246588 ^@ NM_001005360.2(DNM2):c.953G>A (p.Arg318Gln) http://identifiers.org/clinvar/246079 ^@ NM_001005360.2(DNM2):c.992A>G (p.Gln331Arg) http://identifiers.org/clinvar/245905 ^@ NM_001005360.2(DNM2):c.1106G>T (p.Arg369Leu) http://identifiers.org/clinvar/245878 ^@ NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met) http://identifiers.org/clinvar/245709 ^@ NM_001005360.2(DNM2):c.1352G>A (p.Arg451Gln) http://identifiers.org/clinvar/246304 ^@ NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val) http://identifiers.org/clinvar/246446 ^@ NM_001005360.2(DNM2):c.1423-9C>G http://identifiers.org/clinvar/246295 ^@ NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser) http://identifiers.org/clinvar/246082 ^@ NM_001005360.2(DNM2):c.1678G>A (p.Glu560Lys) http://identifiers.org/clinvar/245848 ^@ NM_001005360.2(DNM2):c.1809C>G (p.Ile603Met) http://identifiers.org/clinvar/245836 ^@ NM_001005360.2(DNM2):c.1934T>C (p.Met645Thr) http://identifiers.org/clinvar/246008 ^@ NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) http://identifiers.org/clinvar/246533 ^@ NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) http://identifiers.org/clinvar/246041 ^@ NM_181882.2(PRX):c.4219T>G (p.Ser1407Ala) http://identifiers.org/clinvar/245902 ^@ NM_181882.2(PRX):c.4129C>T (p.Arg1377Cys) http://identifiers.org/clinvar/246575 ^@ NM_181882.2(PRX):c.4112G>A (p.Arg1371Gln) http://identifiers.org/clinvar/246123 ^@ NM_181882.2(PRX):c.3947C>T (p.Ala1316Val) http://identifiers.org/clinvar/246537 ^@ NM_181882.2(PRX):c.3845C>T (p.Ser1282Leu) http://identifiers.org/clinvar/245824 ^@ NM_181882.2(PRX):c.3769G>A (p.Gly1257Arg) http://identifiers.org/clinvar/245707 ^@ NM_181882.2(PRX):c.3656C>T (p.Pro1219Leu) http://identifiers.org/clinvar/245663 ^@ NM_181882.2(PRX):c.3373G>A (p.Gly1125Ser) http://identifiers.org/clinvar/245910 ^@ NM_181882.2(PRX):c.3186G>T (p.Lys1062Asn) http://identifiers.org/clinvar/245745 ^@ NM_181882.2(PRX):c.3145G>A (p.Gly1049Ser) http://identifiers.org/clinvar/245733 ^@ NM_181882.2(PRX):c.2449C>T (p.Arg817Cys) http://identifiers.org/clinvar/246536 ^@ NM_181882.2(PRX):c.1658A>G (p.Glu553Gly) http://identifiers.org/clinvar/245732 ^@ NM_181882.2(PRX):c.1651G>A (p.Val551Met) http://identifiers.org/clinvar/246316 ^@ NM_181882.2(PRX):c.1546C>T (p.Arg516Trp) http://identifiers.org/clinvar/245870 ^@ NM_181882.2(PRX):c.1174C>T (p.Arg392Ter) http://identifiers.org/clinvar/245700 ^@ NM_181882.2(PRX):c.727G>A (p.Gly243Arg) http://identifiers.org/clinvar/246038 ^@ NM_181882.2(PRX):c.716C>T (p.Pro239Leu) http://identifiers.org/clinvar/246061 ^@ NM_181882.2(PRX):c.485A>G (p.Lys162Arg) http://identifiers.org/clinvar/246283 ^@ NM_181882.2(PRX):c.361C>T (p.Arg121Trp) http://identifiers.org/clinvar/246547 ^@ NM_181882.2(PRX):c.121G>A (p.Gly41Arg) http://identifiers.org/clinvar/246066 ^@ NM_181882.2(PRX):c.85G>A (p.Val29Ile) http://identifiers.org/clinvar/246377 ^@ NM_181882.2(PRX):c.16C>G (p.Arg6Gly) http://identifiers.org/clinvar/245862 ^@ NM_002691.3(POLD1):c.80A>T (p.Asp27Val) http://identifiers.org/clinvar/246444 ^@ NM_002691.3(POLD1):c.713C>T (p.Thr238Met) http://identifiers.org/clinvar/246340 ^@ NM_002691.3(POLD1):c.931C>A (p.Arg311Ser) http://identifiers.org/clinvar/246387 ^@ NM_002691.3(POLD1):c.934G>A (p.Val312Met) http://identifiers.org/clinvar/246506 ^@ NM_002691.3(POLD1):c.946G>A (p.Asp316Asn) http://identifiers.org/clinvar/246155 ^@ NM_002691.3(POLD1):c.971-19G>A http://identifiers.org/clinvar/246395 ^@ NM_002691.3(POLD1):c.1028G>A (p.Arg343His) http://identifiers.org/clinvar/246171 ^@ NM_002691.3(POLD1):c.2178G>C (p.Gln726His) http://identifiers.org/clinvar/246103 ^@ NM_002691.3(POLD1):c.2250+5G>C http://identifiers.org/clinvar/246453 ^@ NM_002691.3(POLD1):c.2360C>T (p.Pro787Leu) http://identifiers.org/clinvar/246260 ^@ NM_002691.3(POLD1):c.2548C>T (p.Arg850Cys) http://identifiers.org/clinvar/246491 ^@ NM_002691.3(POLD1):c.2677G>A (p.Asp893Asn) http://identifiers.org/clinvar/246161 ^@ NM_002691.3(POLD1):c.2704G>C (p.Glu902Gln) http://identifiers.org/clinvar/246101 ^@ NM_002691.3(POLD1):c.2854A>G (p.Ile952Val) http://identifiers.org/clinvar/246168 ^@ NM_002691.3(POLD1):c.3103G>C (p.Glu1035Gln) http://identifiers.org/clinvar/246135 ^@ NM_002691.3(POLD1):c.3219-19C>A http://identifiers.org/clinvar/245741 ^@ NM_001972.3(ELANE):c.60G>A (p.Leu20=) http://identifiers.org/clinvar/245599 ^@ NM_001972.3(ELANE):c.597+1G>C http://identifiers.org/clinvar/245598 ^@ NM_001972.3(ELANE):c.597+5G>A http://identifiers.org/clinvar/246271 ^@ NM_001972.3(ELANE):c.597+20C>T http://identifiers.org/clinvar/246431 ^@ NM_000214.2(JAG1):c.*2A>G http://identifiers.org/clinvar/245692 ^@ NM_000214.2(JAG1):c.2301G>A (p.Thr767=) http://identifiers.org/clinvar/246044 ^@ NM_000169.2(GLA):c.1255A>G (p.Asn419Asp) http://identifiers.org/clinvar/245806 ^@ NM_000169.2(GLA):c.1188delC (p.Tyr397Metfs) http://identifiers.org/clinvar/245750 ^@ NM_000169.2(GLA):c.1081G>A (p.Gly361Arg) http://identifiers.org/clinvar/245896 ^@ NM_000169.2(GLA):c.1037delG (p.Gly346Alafs) http://identifiers.org/clinvar/245967 ^@ NM_000169.2(GLA):c.707G>A (p.Trp236Ter) http://identifiers.org/clinvar/246587 ^@ NM_000169.2(GLA):c.596T>C (p.Val199Ala) http://identifiers.org/clinvar/245728 ^@ NM_002764.3(PRPS1):c.319A>G (p.Ile107Val) http://identifiers.org/clinvar/245839 ^@ NM_002764.3(PRPS1):c.361G>A (p.Ala121Thr) http://identifiers.org/clinvar/246214 ^@ NM_000166.5(GJB1):c.-27C>T http://identifiers.org/clinvar/246014 ^@ NM_000166.5(GJB1):c.-17G>A http://identifiers.org/clinvar/246094 ^@ NM_000166.5(GJB1):c.83T>C (p.Ile28Thr) http://identifiers.org/clinvar/245946 ^@ NM_000166.5(GJB1):c.112G>A (p.Val38Met) http://identifiers.org/clinvar/245761 ^@ NM_000166.5(GJB1):c.132G>C (p.Trp44Cys) http://identifiers.org/clinvar/246095 ^@ NM_000166.5(GJB1):c.231G>A (p.Trp77Ter) http://identifiers.org/clinvar/246096 ^@ NM_000166.5(GJB1):c.239A>G (p.Gln80Arg) http://identifiers.org/clinvar/245724 ^@ NM_000166.5(GJB1):c.282C>A (p.His94Gln) http://identifiers.org/clinvar/245904 ^@ NM_000166.5(GJB1):c.376C>T (p.His126Tyr) http://identifiers.org/clinvar/245787 ^@ NM_000166.5(GJB1):c.396delG (p.Trp132Cysfs) http://identifiers.org/clinvar/246133 ^@ NM_000166.5(GJB1):c.439G>A (p.Ala147Thr) http://identifiers.org/clinvar/246097 ^@ NM_000166.5(GJB1):c.462T>G (p.Tyr154Ter) http://identifiers.org/clinvar/245705 ^@ NM_000166.5(GJB1):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/246098 ^@ NM_000166.5(GJB1):c.643C>T (p.Arg215Trp) http://identifiers.org/clinvar/243111 ^@ NM_000052.6(ATP7A):c.922A>G (p.Ile308Val) http://identifiers.org/clinvar/245767 ^@ NM_000052.6(ATP7A):c.1707+6_1707+9delTAAG http://identifiers.org/clinvar/246211 ^@ NM_000052.6(ATP7A):c.1993A>C (p.Met665Leu) http://identifiers.org/clinvar/246555 ^@ NM_000052.6(ATP7A):c.2329C>A (p.Pro777Thr) http://identifiers.org/clinvar/243112 ^@ NM_000052.6(ATP7A):c.2531G>A (p.Arg844His) http://identifiers.org/clinvar/245881 ^@ NM_000052.6(ATP7A):c.2957G>A (p.Arg986Gln) http://identifiers.org/clinvar/245935 ^@ NM_000052.6(ATP7A):c.3337G>A (p.Val1113Ile) http://identifiers.org/clinvar/245706 ^@ NM_000052.6(ATP7A):c.3565A>G (p.Ile1189Val) http://identifiers.org/clinvar/243113 ^@ NM_000052.6(ATP7A):c.3788C>G (p.Ser1263Cys) http://identifiers.org/clinvar/245875 ^@ NM_000052.6(ATP7A):c.3883C>T (p.Arg1295Trp) http://identifiers.org/clinvar/246567 ^@ NM_000052.6(ATP7A):c.3894G>C (p.Met1298Ile) http://identifiers.org/clinvar/245774 ^@ NM_000052.6(ATP7A):c.4066C>T (p.Arg1356Trp) http://identifiers.org/clinvar/245812 ^@ NM_000052.6(ATP7A):c.4102G>A (p.Val1368Ile) http://identifiers.org/clinvar/243114 ^@ NM_000052.6(ATP7A):c.4364G>A (p.Arg1455Gln) http://identifiers.org/clinvar/245604 ^@ NM_004977.2(KCNC3):c.1283C>T (p.Thr428Ile) http://identifiers.org/clinvar/245609 ^@ NM_005631.4(SMO):c.1234C>T (p.Leu412Phe) http://identifiers.org/clinvar/245613 ^@ NM_015340.3(LARS2):c.1289C>T (p.Ala430Val) http://identifiers.org/clinvar/246603 ^@ NM_001256182:c.7545delG http://identifiers.org/clinvar/246604 ^@ NM_001429.3(EP300):c.2164dupC (p.Gln722Profs) http://identifiers.org/clinvar/246605 ^@ NM_001042537:c.916delC http://identifiers.org/clinvar/246606 ^@ NM_006218.3(PIK3CA):c.*29T>C http://identifiers.org/clinvar/246607 ^@ NM_001127500.2(MET):c.4188G>A (p.Glu1396=) http://identifiers.org/clinvar/246608 ^@ NM_001127500.2(MET):c.2859T>A (p.Ile953=) http://identifiers.org/clinvar/246610 ^@ NM_001018113.2(FANCB):c.1342C>T (p.Pro448Ser) http://identifiers.org/clinvar/246611 ^@ NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) http://identifiers.org/clinvar/246612 ^@ NM_001018113.2(FANCB):c.1996G>A (p.Gly666Ser) http://identifiers.org/clinvar/246613 ^@ NM_001018113.2(FANCB):c.2090C>T (p.Pro697Leu) http://identifiers.org/clinvar/246614 ^@ NM_001018113.2(FANCB):c.235T>C (p.Cys79Arg) http://identifiers.org/clinvar/246615 ^@ NM_001018113.2(FANCB):c.2452A>G (p.Arg818Gly) http://identifiers.org/clinvar/246616 ^@ NM_001018113.2(FANCB):c.507T>C (p.Ser169=) http://identifiers.org/clinvar/246617 ^@ NM_001018113.2(FANCB):c.388A>G (p.Met130Val) http://identifiers.org/clinvar/246618 ^@ NM_001127500.2(MET):c.1106A>G (p.Tyr369Cys) http://identifiers.org/clinvar/246619 ^@ NM_001127500.2(MET):c.116T>C (p.Met39Thr) http://identifiers.org/clinvar/246620 ^@ NM_001127500.2(MET):c.1200+8A>G http://identifiers.org/clinvar/246621 ^@ NM_001127500.2(MET):c.1263C>A (p.Thr421=) http://identifiers.org/clinvar/246622 ^@ NM_001127500.2(MET):c.1278C>T (p.Arg426=) http://identifiers.org/clinvar/246623 ^@ NM_001127500.2(MET):c.1393-6G>A http://identifiers.org/clinvar/246624 ^@ NM_001127500.2(MET):c.1989G>A (p.Ser663=) http://identifiers.org/clinvar/246625 ^@ NM_001127500.2(MET):c.1484C>G (p.Thr495Arg) http://identifiers.org/clinvar/246626 ^@ NM_001127500.2(MET):c.1786T>A (p.Phe596Ile) http://identifiers.org/clinvar/246627 ^@ NM_001127500.2(MET):c.1853C>T (p.Thr618Met) http://identifiers.org/clinvar/246628 ^@ NM_001127500.2(MET):c.1898A>T (p.His633Leu) http://identifiers.org/clinvar/246629 ^@ NM_001127500.2(MET):c.2210G>A (p.Ser737Asn) http://identifiers.org/clinvar/246630 ^@ NM_001127500.2(MET):c.2373G>A (p.Pro791=) http://identifiers.org/clinvar/246631 ^@ NM_001127500.2(MET):c.2638-8C>G http://identifiers.org/clinvar/246632 ^@ NM_001127500.2(MET):c.2401G>C (p.Gly801Arg) http://identifiers.org/clinvar/246633 ^@ NM_001127500.2(MET):c.2637+6A>G http://identifiers.org/clinvar/246634 ^@ NM_001127500.2(MET):c.2638-9_2638-8delTC http://identifiers.org/clinvar/246635 ^@ NM_001127500.2(MET):c.2918T>A (p.Leu973Gln) http://identifiers.org/clinvar/246636 ^@ NM_001127500.2(MET):c.3172T>C (p.Ser1058Pro) http://identifiers.org/clinvar/246637 ^@ NM_001127500.2(MET):c.3275G>A (p.Ser1092Asn) http://identifiers.org/clinvar/246638 ^@ NM_001127500.2(MET):c.345C>T (p.Asn115=) http://identifiers.org/clinvar/246639 ^@ NM_001127500.2(MET):c.3496C>T (p.Arg1166Ter) http://identifiers.org/clinvar/246640 ^@ NM_001127500.2(MET):c.3687-2A>G http://identifiers.org/clinvar/246641 ^@ NM_001127500.2(MET):c.3542G>A (p.Gly1181Glu) http://identifiers.org/clinvar/246642 ^@ NM_001127500.2(MET):c.362T>C (p.Val121Ala) http://identifiers.org/clinvar/246643 ^@ NM_001127500.2(MET):c.3637C>T (p.Leu1213Phe) http://identifiers.org/clinvar/246644 ^@ NM_001127500.2(MET):c.3999A>T (p.Val1333=) http://identifiers.org/clinvar/246645 ^@ NM_001127500.2(MET):c.4145C>T (p.Pro1382Leu) http://identifiers.org/clinvar/246646 ^@ NM_001127500.2(MET):c.567G>A (p.Lys189=) http://identifiers.org/clinvar/246647 ^@ NM_001127500.2(MET):c.572G>A (p.Arg191Gln) http://identifiers.org/clinvar/246648 ^@ NM_001127500.2(MET):c.845G>C (p.Cys282Ser) http://identifiers.org/clinvar/246649 ^@ NM_001943.4(DSG2):c.1597G>A (p.Val533Ile) http://identifiers.org/clinvar/246650 ^@ NM_001943.4(DSG2):c.3354C>G (p.Ser1118=) http://identifiers.org/clinvar/246651 ^@ NM_001943.4(DSG2):c.783T>A (p.Arg261=) http://identifiers.org/clinvar/246652 ^@ NM_002047.3(GARS):c.1779C>A (p.Phe593Leu) http://identifiers.org/clinvar/246653 ^@ NM_002047.3(GARS):c.1790_1792delAAG (p.Glu597del) http://identifiers.org/clinvar/246654 ^@ NM_002047.3(GARS):c.2042C>T (p.Pro681Leu) http://identifiers.org/clinvar/246657 ^@ NM_004415.3(DSP):c.1103T>C (p.Ile368Thr) http://identifiers.org/clinvar/246658 ^@ NM_004415.3(DSP):c.1154C>T (p.Ala385Val) http://identifiers.org/clinvar/246659 ^@ NM_004415.3(DSP):c.1482C>T (p.Tyr494=) http://identifiers.org/clinvar/246660 ^@ NM_004415.3(DSP):c.3004C>T (p.Arg1002Trp) http://identifiers.org/clinvar/246661 ^@ NM_004415.3(DSP):c.3138T>C (p.Asp1046=) http://identifiers.org/clinvar/246662 ^@ NM_004415.3(DSP):c.3512T>C (p.Ile1171Thr) http://identifiers.org/clinvar/246663 ^@ NM_004415.3(DSP):c.3740G>A (p.Arg1247Gln) http://identifiers.org/clinvar/246664 ^@ NM_004415.3(DSP):c.3805C>A (p.Arg1269=) http://identifiers.org/clinvar/246665 ^@ NM_004415.3(DSP):c.4173C>T (p.Tyr1391=) http://identifiers.org/clinvar/246666 ^@ NM_004415.3(DSP):c.4670C>T (p.Thr1557Met) http://identifiers.org/clinvar/246667 ^@ NM_004415.3(DSP):c.5697C>T (p.Ile1899=) http://identifiers.org/clinvar/246668 ^@ NM_004415.3(DSP):c.5706C>G (p.Leu1902=) http://identifiers.org/clinvar/246669 ^@ NM_004415.3(DSP):c.6415A>G (p.Asn2139Asp) http://identifiers.org/clinvar/246670 ^@ NM_004415.3(DSP):c.6762C>T (p.Leu2254=) http://identifiers.org/clinvar/246671 ^@ NM_004415.3(DSP):c.7581G>A (p.Gln2527=) http://identifiers.org/clinvar/246672 ^@ NM_004415.3(DSP):c.7172C>T (p.Ala2391Val) http://identifiers.org/clinvar/246673 ^@ NM_004415.3(DSP):c.7552G>A (p.Val2518Ile) http://identifiers.org/clinvar/246674 ^@ NM_004415.3(DSP):c.7647C>T (p.Ser2549=) http://identifiers.org/clinvar/246675 ^@ NM_004415.3(DSP):c.8019C>T (p.Asp2673=) http://identifiers.org/clinvar/246676 ^@ NM_004415.3(DSP):c.8077_8080delAAAG (p.Lys2693Profs) http://identifiers.org/clinvar/246677 ^@ NM_004415.3(DSP):c.8170C>T (p.Gln2724Ter) http://identifiers.org/clinvar/246678 ^@ NM_004415.3(DSP):c.837G>A (p.Thr279=) http://identifiers.org/clinvar/246679 ^@ NM_006218.3(PIK3CA):c.1747-9C>T http://identifiers.org/clinvar/246680 ^@ NM_006218.3(PIK3CA):c.1056T>C (p.Asp352=) http://identifiers.org/clinvar/246681 ^@ NM_006218.3(PIK3CA):c.1490A>G (p.Asn497Ser) http://identifiers.org/clinvar/246682 ^@ NM_006218.3(PIK3CA):c.2016-3T>C http://identifiers.org/clinvar/246683 ^@ NM_006218.3(PIK3CA):c.213A>G (p.Val71=) http://identifiers.org/clinvar/246684 ^@ NM_006218.3(PIK3CA):c.2181A>T (p.Thr727=) http://identifiers.org/clinvar/246685 ^@ NM_006218.3(PIK3CA):c.2295-8T>C http://identifiers.org/clinvar/246686 ^@ NM_006218.3(PIK3CA):c.2298T>G (p.Leu766=) http://identifiers.org/clinvar/246687 ^@ NM_006218.3(PIK3CA):c.2985C>T (p.Ala995=) http://identifiers.org/clinvar/246688 ^@ NM_006218.3(PIK3CA):c.361A>G (p.Ile121Val) http://identifiers.org/clinvar/246689 ^@ NM_006218.3(PIK3CA):c.705C>A (p.Ser235=) http://identifiers.org/clinvar/246691 ^@ NM_001039550.1(DNAJB2):c.620-1G>A http://identifiers.org/clinvar/250924 ^@ NG_009060.1:g.3346_16531del13186 http://identifiers.org/clinvar/250925 ^@ NM_000527.4(LDLR):c.-268G>T http://identifiers.org/clinvar/250926 ^@ NM_000527.4(LDLR):c.-221dupA http://identifiers.org/clinvar/250927 ^@ NM_000527.4(LDLR):c.-217C>T http://identifiers.org/clinvar/250928 ^@ NM_000527.4(LDLR):c.-215A>G http://identifiers.org/clinvar/250929 ^@ NM_000527.4(LDLR):c.-208A>T http://identifiers.org/clinvar/250930 ^@ NM_000527.4(LDLR):c.-193_-186delinsTG http://identifiers.org/clinvar/264667 ^@ NG_009060.1:g.4982_15965del10984 http://identifiers.org/clinvar/250941 ^@ NM_000527.4(LDLR):c.-185_-183delCTT http://identifiers.org/clinvar/250942 ^@ NM_000527.4(LDLR):c.-156C>T http://identifiers.org/clinvar/250943 ^@ NM_000527.4(LDLR):c.-155_-154delACinsTTCTGCAAACTCCT http://identifiers.org/clinvar/250944 ^@ NM_000527.4(LDLR):c.-153C>T http://identifiers.org/clinvar/250945 ^@ NM_000527.4(LDLR):c.-152C>T http://identifiers.org/clinvar/250946 ^@ NM_000527.4(LDLR):c.-149C>A http://identifiers.org/clinvar/250947 ^@ NM_000527.4(LDLR):c.-146C>A http://identifiers.org/clinvar/250948 ^@ NM_000527.4(LDLR):c.-142C>T http://identifiers.org/clinvar/250949 ^@ NM_000527.4(LDLR):c.-140C>G http://identifiers.org/clinvar/250950 ^@ NM_000527.4(LDLR):c.-139C>A http://identifiers.org/clinvar/250951 ^@ NM_000527.4(LDLR):c.-139C>G http://identifiers.org/clinvar/250952 ^@ NM_000527.4(LDLR):c.-138T>C http://identifiers.org/clinvar/250953 ^@ NM_000527.4(LDLR):c.-137C>T http://identifiers.org/clinvar/250954 ^@ NM_000527.4(LDLR):c.-136C>G http://identifiers.org/clinvar/250955 ^@ NM_000527.4(LDLR):c.-136C>T http://identifiers.org/clinvar/250956 ^@ NM_000527.4(LDLR):c.-135C>G http://identifiers.org/clinvar/250957 ^@ NM_000527.4(LDLR):c.-101T>C http://identifiers.org/clinvar/250958 ^@ NM_000527.4(LDLR):c.-88G>A http://identifiers.org/clinvar/250959 ^@ NM_000527.4(LDLR):c.-68A>C http://identifiers.org/clinvar/250960 ^@ NM_000527.4(LDLR):c.-36T>G http://identifiers.org/clinvar/250961 ^@ NM_000527.4(LDLR):c.-23A>C http://identifiers.org/clinvar/250962 ^@ NM_000527.4(LDLR):c.-22delC http://identifiers.org/clinvar/250963 ^@ NM_000527.4(LDLR):c.-14C>A http://identifiers.org/clinvar/250964 ^@ NM_000527.4(LDLR):c.-13A>G http://identifiers.org/clinvar/250965 ^@ NM_000527.4(LDLR):c.-5C>T http://identifiers.org/clinvar/250966 ^@ NM_000527.4(LDLR):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/250967 ^@ NM_000527.4(LDLR):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/250968 ^@ NM_000527.4(LDLR):c.1A>T (p.Met1Leu) http://identifiers.org/clinvar/250969 ^@ NM_000527.4(LDLR):c.3G>T (p.Met1Ile) http://identifiers.org/clinvar/250970 ^@ NM_000527.4(LDLR):c.4G>A (p.Gly2Arg) http://identifiers.org/clinvar/250971 ^@ NM_000527.4(LDLR):c.4G>C (p.Gly2Arg) http://identifiers.org/clinvar/250972 ^@ NM_000527.4(LDLR):c.9delC (p.Trp4Glyfs) http://identifiers.org/clinvar/250973 ^@ NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) http://identifiers.org/clinvar/250975 ^@ NM_000527.4(LDLR):c.28T>A (p.Trp10Arg) http://identifiers.org/clinvar/250976 ^@ NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) http://identifiers.org/clinvar/250974 ^@ NM_000527.4(LDLR):c.28_38delTGGACCGTCGC (p.Trp10Leufs) http://identifiers.org/clinvar/250977 ^@ NM_000527.4(LDLR):c.33_36dupCGTC (p.Ala13Argfs) http://identifiers.org/clinvar/250978 ^@ NM_000527.4(LDLR):c.41delT (p.Leu14Cysfs) http://identifiers.org/clinvar/250979 ^@ NM_000527.4(LDLR):c.41dupT (p.Leu14Phefs) http://identifiers.org/clinvar/250980 ^@ NM_000527.4(LDLR):c.44T>A (p.Leu15His) http://identifiers.org/clinvar/250981 ^@ NM_000527.4(LDLR):c.44T>C (p.Leu15Pro) http://identifiers.org/clinvar/250982 ^@ NM_000527.4(LDLR):c.47T>C (p.Leu16Pro) http://identifiers.org/clinvar/250983 ^@ NM_000527.4(LDLR):c.48C>A (p.Leu16=) http://identifiers.org/clinvar/250984 ^@ NM_000527.4(LDLR):c.56C>A (p.Ala19Glu) http://identifiers.org/clinvar/250985 ^@ NM_000527.4(LDLR):c.56C>T (p.Ala19Val) http://identifiers.org/clinvar/250986 ^@ NM_000527.4(LDLR):c.64delG (p.Ala22Glnfs) http://identifiers.org/clinvar/250987 ^@ NM_000527.4(LDLR):c.67+2T>A http://identifiers.org/clinvar/250988 ^@ NM_000527.4(LDLR):c.67+2015G>T http://identifiers.org/clinvar/250989 ^@ NG_009060.1:g.9203_23430dup14228 http://identifiers.org/clinvar/250990 ^@ NG_009060.1:g.9996_22680del12685 http://identifiers.org/clinvar/250991 ^@ NM_000527.4(LDLR):c.68-5_68-2delCTCA http://identifiers.org/clinvar/250992 ^@ NM_000527.4(LDLR):c.68-2A>G http://identifiers.org/clinvar/250993 ^@ NM_000527.4(LDLR):c.68-2A>T http://identifiers.org/clinvar/251005 ^@ NM_000527.4(LDLR):c.68-1G>C http://identifiers.org/clinvar/251006 ^@ NM_000527.4(LDLR):c.76A>T (p.Arg26Ter) http://identifiers.org/clinvar/251007 ^@ NM_000527.4(LDLR):c.76delA (p.Arg26Aspfs) http://identifiers.org/clinvar/251008 ^@ NM_000527.4(LDLR):c.77_78delGA (p.Arg26Metfs) http://identifiers.org/clinvar/251009 ^@ NM_000527.4(LDLR):c.81C>A (p.Cys27Ter) http://identifiers.org/clinvar/251010 ^@ NM_000527.4(LDLR):c.81C>T (p.Cys27=) http://identifiers.org/clinvar/251011 ^@ NM_000527.4(LDLR):c.85A>T (p.Arg29Ter) http://identifiers.org/clinvar/251012 ^@ NM_000527.4(LDLR):c.90C>T (p.Asn30=) http://identifiers.org/clinvar/251013 ^@ NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) http://identifiers.org/clinvar/251014 ^@ NM_000527.4(LDLR):c.91G>T (p.Glu31Ter) http://identifiers.org/clinvar/251015 ^@ NM_000527.4(LDLR):c.93_99delGTTCCAG (p.Glu31Aspfs) http://identifiers.org/clinvar/251016 ^@ NM_000527.4(LDLR):c.95T>G (p.Phe32Cys) http://identifiers.org/clinvar/251017 ^@ NM_000527.4(LDLR):c.99delG (p.Gln33Hisfs) http://identifiers.org/clinvar/251018 ^@ NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) http://identifiers.org/clinvar/251019 ^@ NM_000527.4(LDLR):c.101G>C (p.Cys34Ser) http://identifiers.org/clinvar/251020 ^@ NM_000527.4(LDLR):c.102C>A (p.Cys34Ter) http://identifiers.org/clinvar/251021 ^@ NM_000527.4(LDLR):c.103C>T (p.Gln35Ter) http://identifiers.org/clinvar/251022 ^@ NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) http://identifiers.org/clinvar/251023 ^@ NM_000527.4(LDLR):c.108delC (p.Asp36Glufs) http://identifiers.org/clinvar/251024 ^@ NM_000527.4(LDLR):c.114dupA (p.Cys39Metfs) http://identifiers.org/clinvar/251025 ^@ NM_000527.4(LDLR):c.116_117delGCinsAA (p.Cys39Ter) http://identifiers.org/clinvar/251026 ^@ NM_000527.4(LDLR):c.117delC (p.Cys39Terfs) http://identifiers.org/clinvar/251027 ^@ NM_000527.4(LDLR):c.118delA (p.Ile40Serfs) http://identifiers.org/clinvar/251028 ^@ NM_000527.4(LDLR):c.126C>A (p.Tyr42Ter) http://identifiers.org/clinvar/251029 ^@ NM_000527.4(LDLR):c.131_132dupGG (p.Val45Glyfs) http://identifiers.org/clinvar/251030 ^@ NM_000527.4(LDLR):c.136T>G (p.Cys46Gly) http://identifiers.org/clinvar/251031 ^@ NM_000527.4(LDLR):c.137G>A (p.Cys46Tyr) http://identifiers.org/clinvar/251032 ^@ NM_000527.4(LDLR):c.138C>A (p.Cys46Ter) http://identifiers.org/clinvar/251034 ^@ NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) http://identifiers.org/clinvar/251033 ^@ NM_000527.4(LDLR):c.139_144delGATGGC (p.Asp47_Gly48del) http://identifiers.org/clinvar/251035 ^@ NM_000527.4(LDLR):c.147C>A (p.Ser49Arg) http://identifiers.org/clinvar/251037 ^@ NM_000527.4(LDLR):c.148G>A (p.Ala50Thr) http://identifiers.org/clinvar/251036 ^@ NM_000527.4(LDLR):c.148delG (p.Ala50Leufs) http://identifiers.org/clinvar/251038 ^@ NM_000527.4(LDLR):c.155G>A (p.Cys52Tyr) http://identifiers.org/clinvar/251039 ^@ NM_000527.4(LDLR):c.157C>T (p.Gln53Ter) http://identifiers.org/clinvar/251040 ^@ NM_000527.4(LDLR):c.169G>A (p.Asp57Asn) http://identifiers.org/clinvar/251041 ^@ NM_000527.4(LDLR):c.171_173delTGA (p.Asp57del) http://identifiers.org/clinvar/251043 ^@ NM_000527.4(LDLR):c.172G>A (p.Glu58Lys) http://identifiers.org/clinvar/251042 ^@ NM_000527.4(LDLR):c.172delG (p.Glu58Serfs) http://identifiers.org/clinvar/251044 ^@ NM_000527.4(LDLR):c.173A>G (p.Glu58Gly) http://identifiers.org/clinvar/251045 ^@ NM_000527.4(LDLR):c.185_186insT (p.Cys63Valfs) http://identifiers.org/clinvar/251046 ^@ NM_000527.4(LDLR):c.187T>C (p.Cys63Arg) http://identifiers.org/clinvar/251047 ^@ NM_000527.4(LDLR):c.188G>A (p.Cys63Tyr) http://identifiers.org/clinvar/251048 ^@ NM_000527.4(LDLR):c.190+1G>A http://identifiers.org/clinvar/251049 ^@ NM_000527.4(LDLR):c.190+1G>T http://identifiers.org/clinvar/251051 ^@ NM_000527.4(LDLR):c.190+2T>G http://identifiers.org/clinvar/251050 ^@ NM_000527.4(LDLR):c.190+2_190+3dup http://identifiers.org/clinvar/251052 ^@ NM_000527.4(LDLR):c.190+34T>C http://identifiers.org/clinvar/251053 ^@ NM_000527.4(LDLR):c.190+56G>A http://identifiers.org/clinvar/251054 ^@ NG_009060.1:g.16949_34552del17604 http://identifiers.org/clinvar/251055 ^@ NG_009060.1:g.17772_23765del5994 http://identifiers.org/clinvar/251056 ^@ NM_000527.4(LDLR):c.191-254_191-249delGTTAAA http://identifiers.org/clinvar/251057 ^@ NM_000527.4(LDLR):c.191-2delinsCT http://identifiers.org/clinvar/251071 ^@ NM_000527.4(LDLR):c.191-1G>A http://identifiers.org/clinvar/264666 ^@ NG_009060.1:g.18284_22307del4024 http://identifiers.org/clinvar/251072 ^@ NM_000527.4(LDLR):c.193_201delTCTGTCACCinsGACTTCA (p.Ser65Aspfs) http://identifiers.org/clinvar/251073 ^@ NM_000527.4(LDLR):c.195_196insA (p.Val66Serfs) http://identifiers.org/clinvar/251074 ^@ NM_000527.4(LDLR):c.195_196insAT (p.Val66Metfs) http://identifiers.org/clinvar/251075 ^@ NM_000527.4(LDLR):c.195dupT (p.Val66Cysfs) http://identifiers.org/clinvar/251076 ^@ NM_000527.4(LDLR):c.199dupA (p.Thr67Asnfs) http://identifiers.org/clinvar/251077 ^@ NM_000527.4(LDLR):c.204C>A (p.Cys68Ter) http://identifiers.org/clinvar/251078 ^@ NM_000527.4(LDLR):c.214delG (p.Asp72Thrfs) http://identifiers.org/clinvar/251079 ^@ NM_000527.4(LDLR):c.223T>A (p.Cys75Ser) http://identifiers.org/clinvar/251080 ^@ NM_000527.4(LDLR):c.225T>G (p.Cys75Trp) http://identifiers.org/clinvar/251081 ^@ NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) http://identifiers.org/clinvar/251082 ^@ NM_000527.4(LDLR):c.230delG (p.Gly77Alafs) http://identifiers.org/clinvar/251083 ^@ NM_000527.4(LDLR):c.230dupG (p.Arg78Profs) http://identifiers.org/clinvar/251084 ^@ NM_000527.4(LDLR):c.232delC (p.Arg78Valfs) http://identifiers.org/clinvar/251085 ^@ NM_000527.4(LDLR):c.233G>A (p.Arg78His) http://identifiers.org/clinvar/251086 ^@ NM_000527.4(LDLR):c.236dupT (p.Asn80Glnfs) http://identifiers.org/clinvar/251087 ^@ NM_000527.4(LDLR):c.240C>A (p.Asn80Lys) http://identifiers.org/clinvar/251088 ^@ NM_000527.4(LDLR):c.241C>A (p.Arg81Ser) http://identifiers.org/clinvar/251089 ^@ NM_000527.4(LDLR):c.242dupG (p.Cys82Leufs) http://identifiers.org/clinvar/251091 ^@ NM_000527.4(LDLR):c.244T>G (p.Cys82Gly) http://identifiers.org/clinvar/251090 ^@ NM_000527.4(LDLR):c.244delT (p.Cys82Alafs) http://identifiers.org/clinvar/251092 ^@ NM_000527.4(LDLR):c.245G>A (p.Cys82Tyr) http://identifiers.org/clinvar/251093 ^@ NM_000527.4(LDLR):c.245G>T (p.Cys82Phe) http://identifiers.org/clinvar/251094 ^@ NM_000527.4(LDLR):c.250C>T (p.Pro84Ser) http://identifiers.org/clinvar/251095 ^@ NM_000527.4(LDLR):c.251C>G (p.Pro84Arg) http://identifiers.org/clinvar/251096 ^@ NM_000527.4(LDLR):c.255G>T (p.Gln85His) http://identifiers.org/clinvar/251097 ^@ NM_000527.4(LDLR):c.257_265delTCTGGAGGT (p.Phe86_Arg88del) http://identifiers.org/clinvar/251098 ^@ NM_000527.4(LDLR):c.260G>A (p.Trp87Ter) http://identifiers.org/clinvar/251100 ^@ NM_000527.4(LDLR):c.261G>A (p.Trp87Ter) http://identifiers.org/clinvar/251099 ^@ NM_000527.4(LDLR):c.261_262delGAinsAG (p.Trp87Ter) http://identifiers.org/clinvar/251101 ^@ NM_000527.4(LDLR):c.264G>C (p.Arg88Ser) http://identifiers.org/clinvar/251102 ^@ NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) http://identifiers.org/clinvar/251103 ^@ NM_000527.4(LDLR):c.265T>G (p.Cys89Gly) http://identifiers.org/clinvar/251104 ^@ NM_000527.4(LDLR):c.267C>G (p.Cys89Trp) http://identifiers.org/clinvar/251105 ^@ NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) http://identifiers.org/clinvar/251106 ^@ NM_000527.4(LDLR):c.268G>T (p.Asp90Tyr) http://identifiers.org/clinvar/251107 ^@ NM_000527.4(LDLR):c.270T>A (p.Asp90Glu) http://identifiers.org/clinvar/251108 ^@ NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) http://identifiers.org/clinvar/251109 ^@ NM_000527.4(LDLR):c.280G>T (p.Asp94Tyr) http://identifiers.org/clinvar/251110 ^@ NM_000527.4(LDLR):c.283T>A (p.Cys95Ser) http://identifiers.org/clinvar/251111 ^@ NM_000527.4(LDLR):c.283T>C (p.Cys95Arg) http://identifiers.org/clinvar/251112 ^@ NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) http://identifiers.org/clinvar/251113 ^@ NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) http://identifiers.org/clinvar/251114 ^@ NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) http://identifiers.org/clinvar/251115 ^@ NM_000527.4(LDLR):c.285C>A (p.Cys95Ter) http://identifiers.org/clinvar/251116 ^@ NM_000527.4(LDLR):c.291C>G (p.Asn97Lys) http://identifiers.org/clinvar/251117 ^@ NM_000527.4(LDLR):c.291C>T (p.Asn97=) http://identifiers.org/clinvar/251118 ^@ NM_000527.4(LDLR):c.292G>A (p.Gly98Ser) http://identifiers.org/clinvar/251119 ^@ NM_000527.4(LDLR):c.292G>C (p.Gly98Arg) http://identifiers.org/clinvar/251120 ^@ NM_000527.4(LDLR):c.296_297delCA (p.Ser99Terfs) http://identifiers.org/clinvar/251121 ^@ NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) http://identifiers.org/clinvar/251122 ^@ NM_000527.4(LDLR):c.299A>G (p.Asp100Gly) http://identifiers.org/clinvar/251123 ^@ NM_000527.4(LDLR):c.300C>T (p.Asp100=) http://identifiers.org/clinvar/251125 ^@ NM_000527.4(LDLR):c.301G>T (p.Glu101Ter) http://identifiers.org/clinvar/251124 ^@ NM_000527.4(LDLR):c.301delG (p.Glu101Serfs) http://identifiers.org/clinvar/251126 ^@ NM_000527.4(LDLR):c.303delG (p.Glu101Aspfs) http://identifiers.org/clinvar/251127 ^@ NM_000527.4(LDLR):c.305A>C (p.Gln102Pro) http://identifiers.org/clinvar/251129 ^@ NM_000527.4(LDLR):c.310T>C (p.Cys104Arg) http://identifiers.org/clinvar/251128 ^@ NM_000527.4(LDLR):c.310_313delTGTC (p.Cys104Profs) http://identifiers.org/clinvar/251130 ^@ NM_000527.4(LDLR):c.311G>T (p.Cys104Phe) http://identifiers.org/clinvar/251131 ^@ NM_000527.4(LDLR):c.312T>G (p.Cys104Trp) http://identifiers.org/clinvar/251132 ^@ NM_000527.4(LDLR):c.313C>T (p.Pro105Ser) http://identifiers.org/clinvar/251134 ^@ NM_000527.4(LDLR):c.313+1G>T http://identifiers.org/clinvar/251133 ^@ NM_001195799.1(LDLR):c.191-2433_191-2432insG http://identifiers.org/clinvar/251135 ^@ NM_000527.4(LDLR):c.313+2T>A http://identifiers.org/clinvar/251136 ^@ NM_000527.4(LDLR):c.313+5G>A http://identifiers.org/clinvar/251137 ^@ NM_000527.4(LDLR):c.313+5G>T http://identifiers.org/clinvar/251138 ^@ NM_000527.4(LDLR):c.313+6T>C http://identifiers.org/clinvar/251139 ^@ NM_000527.4(LDLR):c.313+69C>T http://identifiers.org/clinvar/251140 ^@ NG_009060.1:g.20394_28512dup8119 http://identifiers.org/clinvar/251141 ^@ NM_000527.4(LDLR):c.314-3C>T http://identifiers.org/clinvar/251142 ^@ NM_000527.4(LDLR):c.314-2A>C http://identifiers.org/clinvar/251148 ^@ NM_000527.4(LDLR):c.314-1G>A http://identifiers.org/clinvar/251149 ^@ NM_000527.4(LDLR):c.316_336del21 (p.Pro106_Asp112del) http://identifiers.org/clinvar/251150 ^@ NM_000527.4(LDLR):c.318dupC (p.Lys107Glnfs) http://identifiers.org/clinvar/251151 ^@ NM_000527.4(LDLR):c.320_332delAGACGTGCTCCCA (p.Lys107Argfs) http://identifiers.org/clinvar/251152 ^@ NM_000527.4(LDLR):c.320dupA (p.Thr108Aspfs) http://identifiers.org/clinvar/251153 ^@ NM_000527.4(LDLR):c.323C>T (p.Thr108Met) http://identifiers.org/clinvar/251154 ^@ NM_000527.4(LDLR):c.324_325delGTinsTC (p.Cys109Arg) http://identifiers.org/clinvar/251156 ^@ NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) http://identifiers.org/clinvar/251155 ^@ NM_000527.4(LDLR):c.325_337delTGCTCCCAGGACG (p.Cys109Serfs) http://identifiers.org/clinvar/251157 ^@ NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) http://identifiers.org/clinvar/251158 ^@ NM_000527.4(LDLR):c.327dupC (p.Ser110Leufs) http://identifiers.org/clinvar/251159 ^@ NM_000527.4(LDLR):c.335_344delACGAGTTTCG (p.Asp112Alafs) http://identifiers.org/clinvar/251160 ^@ NM_000527.4(LDLR):c.338_353del16 (p.Glu113Valfs) http://identifiers.org/clinvar/251161 ^@ NM_000527.4(LDLR):c.339dupG (p.Phe114Valfs) http://identifiers.org/clinvar/251162 ^@ NM_000527.4(LDLR):c.343C>T (p.Arg115Cys) http://identifiers.org/clinvar/251163 ^@ NM_000527.4(LDLR):c.346T>C (p.Cys116Arg) http://identifiers.org/clinvar/251166 ^@ NM_000527.4(LDLR):c.347G>T (p.Cys116Phe) http://identifiers.org/clinvar/251164 ^@ NM_000527.4(LDLR):c.347_349delGCC (p.Cys116_His117delinsTyr) http://identifiers.org/clinvar/251165 ^@ NM_000527.4(LDLR):c.347_367del21 (p.Cys116_Ile122del) http://identifiers.org/clinvar/251167 ^@ NM_000527.4(LDLR):c.349C>T (p.His117Tyr) http://identifiers.org/clinvar/251168 ^@ NM_000527.4(LDLR):c.350_372dup23 (p.Gln125Thrfs) http://identifiers.org/clinvar/251169 ^@ NM_000527.4(LDLR):c.353delA (p.Asp118Valfs) http://identifiers.org/clinvar/251170 ^@ NM_000527.4(LDLR):c.354_356delTGG (p.Asp118_Gly119delinsGlu) http://identifiers.org/clinvar/251171 ^@ NM_000527.4(LDLR):c.356_362delGGAAGTG (p.Gly119Alafs) http://identifiers.org/clinvar/251172 ^@ NM_000527.4(LDLR):c.357delG (p.Lys120Serfs) http://identifiers.org/clinvar/251173 ^@ NM_000527.4(LDLR):c.361T>A (p.Cys121Ser) http://identifiers.org/clinvar/251174 ^@ NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) http://identifiers.org/clinvar/251175 ^@ NM_000527.4(LDLR):c.361T>G (p.Cys121Gly) http://identifiers.org/clinvar/251176 ^@ NM_000527.4(LDLR):c.362G>C (p.Cys121Ser) http://identifiers.org/clinvar/251177 ^@ NM_000527.4(LDLR):c.362G>T (p.Cys121Phe) http://identifiers.org/clinvar/251178 ^@ NM_000527.4(LDLR):c.364A>T (p.Ile122Phe) http://identifiers.org/clinvar/251179 ^@ NM_000527.4(LDLR):c.366dupC (p.Ser123Leufs) http://identifiers.org/clinvar/251180 ^@ NM_000527.4(LDLR):c.367T>A (p.Ser123Thr) http://identifiers.org/clinvar/251181 ^@ NM_000527.4(LDLR):c.367T>C (p.Ser123Pro) http://identifiers.org/clinvar/251182 ^@ NM_000527.4(LDLR):c.369_370delTC (p.Arg124Alafs) http://identifiers.org/clinvar/251183 ^@ NM_000527.4(LDLR):c.369_393del25 (p.Arg124Glyfs) http://identifiers.org/clinvar/251184 ^@ NM_000527.4(LDLR):c.370C>G (p.Arg124Gly) http://identifiers.org/clinvar/251185 ^@ NM_000527.4(LDLR):c.370C>T (p.Arg124Trp) http://identifiers.org/clinvar/251186 ^@ NM_000527.4(LDLR):c.371_372insC (p.Gln125Alafs) http://identifiers.org/clinvar/251187 ^@ NM_000527.4(LDLR):c.373C>T (p.Gln125Ter) http://identifiers.org/clinvar/251188 ^@ NM_000527.4(LDLR):c.374_375insCTGA (p.Gln125Hisfs) http://identifiers.org/clinvar/251189 ^@ NM_000527.4(LDLR):c.376T>C (p.Phe126Leu) http://identifiers.org/clinvar/251190 ^@ NM_000527.4(LDLR):c.377T>A (p.Phe126Tyr) http://identifiers.org/clinvar/251191 ^@ NM_000527.4(LDLR):c.380T>A (p.Val127Asp) http://identifiers.org/clinvar/251193 ^@ NM_000527.4(LDLR):c.382T>C (p.Cys128Arg) http://identifiers.org/clinvar/251192 ^@ NM_000527.4(LDLR):c.382_385delTGTG (p.Cys128Thrfs) http://identifiers.org/clinvar/251194 ^@ NM_000527.4(LDLR):c.383G>T (p.Cys128Phe) http://identifiers.org/clinvar/251195 ^@ NM_000527.4(LDLR):c.386A>G (p.Asp129Gly) http://identifiers.org/clinvar/251196 ^@ NM_000527.4(LDLR):c.388T>A (p.Ser130Thr) http://identifiers.org/clinvar/251197 ^@ NM_000527.4(LDLR):c.388T>C (p.Ser130Pro) http://identifiers.org/clinvar/251198 ^@ NM_000527.4(LDLR):c.389C>G (p.Ser130Ter) http://identifiers.org/clinvar/251199 ^@ NM_000527.4(LDLR):c.389dupC (p.Asp131Argfs) http://identifiers.org/clinvar/251200 ^@ NM_000527.4(LDLR):c.391G>C (p.Asp131His) http://identifiers.org/clinvar/251202 ^@ NM_000527.4(LDLR):c.397G>A (p.Asp133Asn) http://identifiers.org/clinvar/251201 ^@ NM_000527.4(LDLR):c.397dupG (p.Asp133Glyfs) http://identifiers.org/clinvar/251203 ^@ NM_000527.4(LDLR):c.401G>A (p.Cys134Tyr) http://identifiers.org/clinvar/251204 ^@ NM_000527.4(LDLR):c.401G>T (p.Cys134Phe) http://identifiers.org/clinvar/251205 ^@ NM_000527.4(LDLR):c.402C>G (p.Cys134Trp) http://identifiers.org/clinvar/251206 ^@ NM_000527.4(LDLR):c.407A>T (p.Asp136Val) http://identifiers.org/clinvar/251207 ^@ NM_000527.4(LDLR):c.409G>T (p.Gly137Cys) http://identifiers.org/clinvar/251208 ^@ NM_000527.4(LDLR):c.413C>G (p.Ser138Ter) http://identifiers.org/clinvar/251209 ^@ NM_000527.4(LDLR):c.415G>A (p.Asp139Asn) http://identifiers.org/clinvar/251210 ^@ NM_000527.4(LDLR):c.415G>C (p.Asp139His) http://identifiers.org/clinvar/251211 ^@ NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) http://identifiers.org/clinvar/251212 ^@ NM_000527.4(LDLR):c.416A>T (p.Asp139Val) http://identifiers.org/clinvar/251213 ^@ NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) http://identifiers.org/clinvar/251214 ^@ NM_000527.4(LDLR):c.418G>T (p.Glu140Ter) http://identifiers.org/clinvar/251215 ^@ NM_000527.4(LDLR):c.419A>G (p.Glu140Gly) http://identifiers.org/clinvar/251216 ^@ NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) http://identifiers.org/clinvar/251217 ^@ NM_000527.4(LDLR):c.420G>T (p.Glu140Asp) http://identifiers.org/clinvar/251218 ^@ NM_000527.4(LDLR):c.424_430delTCCTGCC (p.Ser142Argfs) http://identifiers.org/clinvar/251219 ^@ NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) http://identifiers.org/clinvar/251220 ^@ NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) http://identifiers.org/clinvar/251221 ^@ NM_000527.4(LDLR):c.431_434dupCGGT (p.Leu146Glyfs) http://identifiers.org/clinvar/251222 ^@ NM_000527.4(LDLR):c.434T>C (p.Val145Ala) http://identifiers.org/clinvar/251223 ^@ NM_000527.4(LDLR):c.440C>T (p.Thr147Ile) http://identifiers.org/clinvar/251224 ^@ NM_000527.4(LDLR):c.442T>C (p.Cys148Arg) http://identifiers.org/clinvar/251225 ^@ NM_000527.4(LDLR):c.443G>A (p.Cys148Tyr) http://identifiers.org/clinvar/251227 ^@ NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) http://identifiers.org/clinvar/251228 ^@ NM_000527.4(LDLR):c.444T>G (p.Cys148Trp) http://identifiers.org/clinvar/251229 ^@ NM_000527.4(LDLR):c.445G>T (p.Gly149Cys) http://identifiers.org/clinvar/251230 ^@ NM_000527.4(LDLR):c.447T>C (p.Gly149=) http://identifiers.org/clinvar/251231 ^@ NM_000527.4(LDLR):c.450dupC (p.Ala151Argfs) http://identifiers.org/clinvar/251233 ^@ NM_000527.4(LDLR):c.451G>A (p.Ala151Thr) http://identifiers.org/clinvar/251234 ^@ NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) http://identifiers.org/clinvar/251232 ^@ NM_000527.4(LDLR):c.451_453delGCC (p.Ala151del) http://identifiers.org/clinvar/251235 ^@ NM_000527.4(LDLR):c.457T>G (p.Phe153Val) http://identifiers.org/clinvar/251236 ^@ NM_000527.4(LDLR):c.458T>G (p.Phe153Cys) http://identifiers.org/clinvar/251237 ^@ NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) http://identifiers.org/clinvar/251238 ^@ NM_000527.4(LDLR):c.463T>C (p.Cys155Arg) http://identifiers.org/clinvar/251239 ^@ NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) http://identifiers.org/clinvar/251240 ^@ NM_000527.4(LDLR):c.464G>A (p.Cys155Tyr) http://identifiers.org/clinvar/251241 ^@ NM_000527.4(LDLR):c.464G>T (p.Cys155Phe) http://identifiers.org/clinvar/251242 ^@ NM_000527.4(LDLR):c.465C>A (p.Cys155Ter) http://identifiers.org/clinvar/251243 ^@ NM_000527.4(LDLR):c.466_484dup19 (p.Pro162Glnfs) http://identifiers.org/clinvar/251244 ^@ NM_000527.4(LDLR):c.472delT (p.Ser158Profs) http://identifiers.org/clinvar/251245 ^@ NM_000527.4(LDLR):c.473C>G (p.Ser158Cys) http://identifiers.org/clinvar/251246 ^@ NM_000527.4(LDLR):c.476C>T (p.Thr159Ile) http://identifiers.org/clinvar/251247 ^@ NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) http://identifiers.org/clinvar/251248 ^@ NM_000527.4(LDLR):c.478T>G (p.Cys160Gly) http://identifiers.org/clinvar/251249 ^@ NM_000527.4(LDLR):c.479G>A (p.Cys160Tyr) http://identifiers.org/clinvar/251250 ^@ NM_000527.4(LDLR):c.482_488delTCCCCCA (p.Ile161Serfs) http://identifiers.org/clinvar/251251 ^@ NM_000527.4(LDLR):c.485C>T (p.Pro162Leu) http://identifiers.org/clinvar/251252 ^@ NM_000527.4(LDLR):c.491T>C (p.Leu164Pro) http://identifiers.org/clinvar/251253 ^@ NM_000527.4(LDLR):c.493T>G (p.Trp165Gly) http://identifiers.org/clinvar/251254 ^@ NM_000527.4(LDLR):c.495G>A (p.Trp165Ter) http://identifiers.org/clinvar/251255 ^@ NM_000527.4(LDLR):c.499T>C (p.Cys167Arg) http://identifiers.org/clinvar/251256 ^@ NM_000527.4(LDLR):c.500G>A (p.Cys167Tyr) http://identifiers.org/clinvar/251257 ^@ NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) http://identifiers.org/clinvar/251258 ^@ NM_000527.4(LDLR):c.502G>C (p.Asp168His) http://identifiers.org/clinvar/251259 ^@ NM_000527.4(LDLR):c.502G>T (p.Asp168Tyr) http://identifiers.org/clinvar/251260 ^@ NM_000527.4(LDLR):c.503A>G (p.Asp168Gly) http://identifiers.org/clinvar/251261 ^@ NM_000527.4(LDLR):c.504C>A (p.Asp168Glu) http://identifiers.org/clinvar/251262 ^@ NM_000527.4(LDLR):c.506A>T (p.Asn169Ile) http://identifiers.org/clinvar/251263 ^@ NM_000527.4(LDLR):c.508_509insC (p.Asp170Alafs) http://identifiers.org/clinvar/251264 ^@ NM_000527.4(LDLR):c.513delC (p.Asp172Thrfs) http://identifiers.org/clinvar/251265 ^@ NM_000527.4(LDLR):c.513dupC (p.Asp172Argfs) http://identifiers.org/clinvar/251266 ^@ NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) http://identifiers.org/clinvar/251267 ^@ NM_000527.4(LDLR):c.514G>C (p.Asp172His) http://identifiers.org/clinvar/251268 ^@ NM_000527.4(LDLR):c.514G>T (p.Asp172Tyr) http://identifiers.org/clinvar/251269 ^@ NM_000527.4(LDLR):c.515A>G (p.Asp172Gly) http://identifiers.org/clinvar/251271 ^@ NM_000527.4(LDLR):c.516C>G (p.Asp172Glu) http://identifiers.org/clinvar/251270 ^@ NM_000527.4(LDLR):c.516_524dupCTGCGAAGA (p.Asp175_Gly176insCysGluAsp) http://identifiers.org/clinvar/251272 ^@ NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) http://identifiers.org/clinvar/251273 ^@ NM_000527.4(LDLR):c.517T>G (p.Cys173Gly) http://identifiers.org/clinvar/251275 ^@ NM_000527.4(LDLR):c.518G>A (p.Cys173Tyr) http://identifiers.org/clinvar/251274 ^@ NM_000527.4(LDLR):c.518delG (p.Cys173Serfs) http://identifiers.org/clinvar/251276 ^@ NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) http://identifiers.org/clinvar/251277 ^@ NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) http://identifiers.org/clinvar/251278 ^@ NM_000527.4(LDLR):c.523G>T (p.Asp175Tyr) http://identifiers.org/clinvar/251279 ^@ NM_000527.4(LDLR):c.525_536delTGGCTCGGATGA (p.Asp175_Asp178del) http://identifiers.org/clinvar/251280 ^@ NM_000527.4(LDLR):c.526_533dupGGCTCGGA (p.Asp178Glufs) http://identifiers.org/clinvar/251281 ^@ NM_000527.4(LDLR):c.527G>T (p.Gly176Val) http://identifiers.org/clinvar/251283 ^@ NM_000527.4(LDLR):c.532G>A (p.Asp178Asn) http://identifiers.org/clinvar/251284 ^@ NM_000527.4(LDLR):c.532G>C (p.Asp178His) http://identifiers.org/clinvar/251285 ^@ NM_000527.4(LDLR):c.532G>T (p.Asp178Tyr) http://identifiers.org/clinvar/251282 ^@ NM_000527.4(LDLR):c.532_533insT (p.Asp178Valfs) http://identifiers.org/clinvar/251286 ^@ NM_000527.4(LDLR):c.533A>G (p.Asp178Gly) http://identifiers.org/clinvar/251287 ^@ NM_000527.4(LDLR):c.534T>G (p.Asp178Glu) http://identifiers.org/clinvar/251288 ^@ NM_000527.4(LDLR):c.535G>A (p.Glu179Lys) http://identifiers.org/clinvar/251289 ^@ NM_000527.4(LDLR):c.535G>T (p.Glu179Ter) http://identifiers.org/clinvar/251290 ^@ NM_000527.4(LDLR):c.536A>G (p.Glu179Gly) http://identifiers.org/clinvar/251291 ^@ NM_000527.4(LDLR):c.539G>A (p.Trp180Ter) http://identifiers.org/clinvar/251292 ^@ NM_000527.4(LDLR):c.544C>T (p.Gln182Ter) http://identifiers.org/clinvar/251294 ^@ NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) http://identifiers.org/clinvar/251293 ^@ NM_000527.4(LDLR):c.552T>G (p.Cys184Trp) http://identifiers.org/clinvar/251295 ^@ NM_000527.4(LDLR):c.557delG (p.Gly186Valfs) http://identifiers.org/clinvar/251296 ^@ NM_000527.4(LDLR):c.558_559insG (p.Leu187Alafs) http://identifiers.org/clinvar/251297 ^@ NM_000527.4(LDLR):c.561_562delTT (p.Tyr188Argfs) http://identifiers.org/clinvar/251298 ^@ NM_000527.4(LDLR):c.562delT (p.Tyr188Thrfs) http://identifiers.org/clinvar/251299 ^@ NM_000527.4(LDLR):c.564C>A (p.Tyr188Ter) http://identifiers.org/clinvar/251300 ^@ NM_000527.4(LDLR):c.565G>A (p.Val189Met) http://identifiers.org/clinvar/251301 ^@ NM_000527.4(LDLR):c.568_590del23 (p.Phe190Leufs) http://identifiers.org/clinvar/251302 ^@ NM_000527.4(LDLR):c.571C>T (p.Gln191Ter) http://identifiers.org/clinvar/251303 ^@ NM_000527.4(LDLR):c.578_584delACAGTAG (p.Asp193Alafs) http://identifiers.org/clinvar/251304 ^@ NM_000527.4(LDLR):c.578delA (p.Asp193Alafs) http://identifiers.org/clinvar/251305 ^@ NM_000527.4(LDLR):c.581_582insA (p.Ser194Argfs) http://identifiers.org/clinvar/251306 ^@ NM_000527.4(LDLR):c.583_589delAGCCCCT (p.Ser195Alafs) http://identifiers.org/clinvar/251307 ^@ NM_000527.4(LDLR):c.584G>A (p.Ser195Asn) http://identifiers.org/clinvar/251308 ^@ NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) http://identifiers.org/clinvar/251309 ^@ NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) http://identifiers.org/clinvar/251310 ^@ NM_000527.4(LDLR):c.591C>A (p.Cys197Ter) http://identifiers.org/clinvar/251311 ^@ NM_000527.4(LDLR):c.591C>G (p.Cys197Trp) http://identifiers.org/clinvar/251312 ^@ NM_000527.4(LDLR):c.593C>A (p.Ser198Ter) http://identifiers.org/clinvar/251313 ^@ NM_000527.4(LDLR):c.598T>A (p.Phe200Ile) http://identifiers.org/clinvar/251314 ^@ NM_000527.4(LDLR):c.599T>G (p.Phe200Cys) http://identifiers.org/clinvar/251315 ^@ NM_000527.4(LDLR):c.600C>A (p.Phe200Leu) http://identifiers.org/clinvar/251316 ^@ NM_000527.4(LDLR):c.600delC (p.Phe200Leufs) http://identifiers.org/clinvar/251317 ^@ NM_000527.4(LDLR):c.601G>A (p.Glu201Lys) http://identifiers.org/clinvar/251318 ^@ NM_000527.4(LDLR):c.605T>C (p.Phe202Ser) http://identifiers.org/clinvar/251319 ^@ NM_000527.4(LDLR):c.609delC (p.Cys204Alafs) http://identifiers.org/clinvar/251320 ^@ NM_000527.4(LDLR):c.611G>A (p.Cys204Tyr) http://identifiers.org/clinvar/251321 ^@ NM_000527.4(LDLR):c.611G>C (p.Cys204Ser) http://identifiers.org/clinvar/251322 ^@ NM_000527.4(LDLR):c.611G>T (p.Cys204Phe) http://identifiers.org/clinvar/251323 ^@ NM_000527.4(LDLR):c.616dupA (p.Ser206Lysfs) http://identifiers.org/clinvar/251324 ^@ NM_000527.4(LDLR):c.617delG (p.Ser206Metfs) http://identifiers.org/clinvar/251325 ^@ NM_000527.4(LDLR):c.618T>G (p.Ser206Arg) http://identifiers.org/clinvar/251326 ^@ NM_000527.4(LDLR):c.619_639del21 (p.Gly207_Ser213del) http://identifiers.org/clinvar/251327 ^@ NM_000527.4(LDLR):c.621C>G (p.Gly207=) http://identifiers.org/clinvar/251328 ^@ NM_000527.4(LDLR):c.622G>A (p.Glu208Lys) http://identifiers.org/clinvar/251329 ^@ NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) http://identifiers.org/clinvar/251330 ^@ NM_000527.4(LDLR):c.623_644del22 (p.Glu208Alafs) http://identifiers.org/clinvar/251331 ^@ NM_000527.4(LDLR):c.625_626dupTG (p.Ile210Alafs) http://identifiers.org/clinvar/251332 ^@ NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) http://identifiers.org/clinvar/251333 ^@ NM_000527.4(LDLR):c.629T>A (p.Ile210Asn) http://identifiers.org/clinvar/251334 ^@ NM_000527.4(LDLR):c.631C>G (p.His211Asp) http://identifiers.org/clinvar/251335 ^@ NM_000527.4(LDLR):c.631C>T (p.His211Tyr) http://identifiers.org/clinvar/251337 ^@ NM_000527.4(LDLR):c.632A>T (p.His211Leu) http://identifiers.org/clinvar/251336 ^@ NM_000527.4(LDLR):c.632_634delACT (p.His211_Ser212delinsPro) http://identifiers.org/clinvar/251338 ^@ NM_000527.4(LDLR):c.638G>C (p.Ser213Thr) http://identifiers.org/clinvar/251339 ^@ NM_000527.4(LDLR):c.641G>C (p.Trp214Ser) http://identifiers.org/clinvar/251340 ^@ NM_000527.4(LDLR):c.642G>A (p.Trp214Ter) http://identifiers.org/clinvar/251342 ^@ NM_000527.4(LDLR):c.643C>A (p.Arg215Ser) http://identifiers.org/clinvar/251341 ^@ NM_000527.4(LDLR):c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp) http://identifiers.org/clinvar/251343 ^@ NM_000527.4(LDLR):c.645_646delCT (p.Cys216Terfs) http://identifiers.org/clinvar/251345 ^@ NM_000527.4(LDLR):c.646T>C (p.Cys216Arg) http://identifiers.org/clinvar/251344 ^@ NM_000527.4(LDLR):c.646delT (p.Cys216Valfs) http://identifiers.org/clinvar/251346 ^@ NM_000527.4(LDLR):c.647G>A (p.Cys216Tyr) http://identifiers.org/clinvar/251347 ^@ NM_000527.4(LDLR):c.647G>T (p.Cys216Phe) http://identifiers.org/clinvar/251348 ^@ NM_000527.4(LDLR):c.648_649delTG (p.Cys216Terfs) http://identifiers.org/clinvar/251349 ^@ NM_000527.4(LDLR):c.648_656delTGATGGTGG (p.Asp217_Gly219del) http://identifiers.org/clinvar/251350 ^@ NM_000527.4(LDLR):c.649_650insT (p.Asp217Valfs) http://identifiers.org/clinvar/264665 ^@ NM_000527.4(LDLR):c.649_654dupGATGGT (p.Gly218_Gly219insAspGly) http://identifiers.org/clinvar/251351 ^@ NM_000527.4(LDLR):c.651_687del37 (p.Asp217Glufs) http://identifiers.org/clinvar/251352 ^@ NM_000527.4(LDLR):c.655_657delGGC (p.Gly219del) http://identifiers.org/clinvar/251353 ^@ NM_000527.4(LDLR):c.656_661delGCCCCG (p.Gly219_Pro220del) http://identifiers.org/clinvar/264664 ^@ NM_000527.4(LDLR):c.657_661delCCCCG (p.Pro220Leufs) http://identifiers.org/clinvar/251359 ^@ NM_000527.4(LDLR):c.657_661dupCCCCG (p.Asp221Alafs) http://identifiers.org/clinvar/251356 ^@ NM_000527.4(LDLR):c.661G>T (p.Asp221Tyr) http://identifiers.org/clinvar/251354 ^@ NM_000527.4(LDLR):c.661_673dupGACTGCAAGGACA (p.Lys225Argfs) http://identifiers.org/clinvar/251355 ^@ NM_000527.4(LDLR):c.661_677del17 (p.Asp221Terfs) http://identifiers.org/clinvar/251357 ^@ NM_000527.4(LDLR):c.662A>T (p.Asp221Val) http://identifiers.org/clinvar/251358 ^@ NM_000527.4(LDLR):c.663_683dup21 (p.Asp227_Glu228insAspCysLysAspLysSerAsp) http://identifiers.org/clinvar/251361 ^@ NM_000527.4(LDLR):c.664T>G (p.Cys222Gly) http://identifiers.org/clinvar/251360 ^@ NM_000527.4(LDLR):c.664_681del18insCCGACTG (p.Cys222Profs) http://identifiers.org/clinvar/251362 ^@ NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) http://identifiers.org/clinvar/251364 ^@ NM_000527.4(LDLR):c.666C>A (p.Cys222Ter) http://identifiers.org/clinvar/251365 ^@ NM_000527.4(LDLR):c.666C>G (p.Cys222Trp) http://identifiers.org/clinvar/251363 ^@ NM_000527.4(LDLR):c.666_687del22 (p.Cys222Terfs) http://identifiers.org/clinvar/251366 ^@ NM_000527.4(LDLR):c.667_693del27 (p.Lys223_Cys231del) http://identifiers.org/clinvar/251367 ^@ NM_000527.4(LDLR):c.668_681dupAGGACAAATCTGAC (p.Glu228Argfs) http://identifiers.org/clinvar/251370 ^@ NM_000527.4(LDLR):c.669G>C (p.Lys223Asn) http://identifiers.org/clinvar/251368 ^@ NM_000527.4(LDLR):c.669_679dupGGACAAATCTG (p.Asp227Glyfs) http://identifiers.org/clinvar/251369 ^@ NM_000527.4(LDLR):c.669_680dupGGACAAATCTGA (p.Ser226_Asp227insGluAspLysSer) http://identifiers.org/clinvar/251371 ^@ NM_000527.4(LDLR):c.670_675delGACAAAinsTTT (p.Asp224_Lys225delinsPhe) http://identifiers.org/clinvar/251372 ^@ NM_000527.4(LDLR):c.670dupG (p.Asp224Glyfs) http://identifiers.org/clinvar/251373 ^@ NM_000527.4(LDLR):c.671A>C (p.Asp224Ala) http://identifiers.org/clinvar/251374 ^@ NM_000527.4(LDLR):c.671A>G (p.Asp224Gly) http://identifiers.org/clinvar/251375 ^@ NM_000527.4(LDLR):c.671A>T (p.Asp224Val) http://identifiers.org/clinvar/251376 ^@ NM_000527.4(LDLR):c.672_683dupCAAATCTGACGA (p.Asp227_Glu228insAspLysSerAsp) http://identifiers.org/clinvar/251377 ^@ NM_000527.4(LDLR):c.673_681dupAAATCTGAC (p.Asp227_Glu228insLysSerAsp) http://identifiers.org/clinvar/251378 ^@ NM_000527.4(LDLR):c.673_682delAAATCTGACGinsTGCAA (p.Lys225Cysfs) http://identifiers.org/clinvar/251379 ^@ NM_000527.4(LDLR):c.674_681dupAATCTGAC (p.Glu228Asnfs) http://identifiers.org/clinvar/251380 ^@ NM_000527.4(LDLR):c.675_681dupATCTGAC (p.Glu228Ilefs) http://identifiers.org/clinvar/251381 ^@ NM_000527.4(LDLR):c.675_689delATCTGACGAGGAAAA (p.Lys225_Glu229del) http://identifiers.org/clinvar/251382 ^@ NM_000527.4(LDLR):c.675delA (p.Lys225Asnfs) http://identifiers.org/clinvar/251384 ^@ NM_000527.4(LDLR):c.676T>C (p.Ser226Pro) http://identifiers.org/clinvar/251383 ^@ NM_000527.4(LDLR):c.676_684dupTCTGACGAG (p.Glu228_Glu229insSerAspGlu) http://identifiers.org/clinvar/251385 ^@ NM_000527.4(LDLR):c.677C>G (p.Ser226Cys) http://identifiers.org/clinvar/251388 ^@ NM_000527.4(LDLR):c.680A>T (p.Asp227Val) http://identifiers.org/clinvar/251386 ^@ NM_000527.4(LDLR):c.680_681ins(21) http://identifiers.org/clinvar/251387 ^@ NM_000527.4(LDLR):c.680_682delACGins14 (p.?) http://identifiers.org/clinvar/251389 ^@ NM_000527.4(LDLR):c.681_682insTGAG (p.Glu228Terfs) http://identifiers.org/clinvar/251390 ^@ NM_000527.4(LDLR):c.681_683delCGA (p.Asp227del) http://identifiers.org/clinvar/251393 ^@ NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) http://identifiers.org/clinvar/251391 ^@ NM_000527.4(LDLR):c.682delG (p.Glu228Argfs) http://identifiers.org/clinvar/251392 ^@ NM_000527.4(LDLR):c.682delGinsTGCA (p.Glu228delinsCysLys) http://identifiers.org/clinvar/251394 ^@ NM_000527.4(LDLR):c.683A>C (p.Glu228Ala) http://identifiers.org/clinvar/251395 ^@ NM_000527.4(LDLR):c.690C>T (p.Asn230=) http://identifiers.org/clinvar/251396 ^@ NM_000527.4(LDLR):c.691T>C (p.Cys231Arg) http://identifiers.org/clinvar/251397 ^@ NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) http://identifiers.org/clinvar/251398 ^@ NM_000527.4(LDLR):c.692G>A (p.Cys231Tyr) http://identifiers.org/clinvar/251400 ^@ NM_000527.4(LDLR):c.693C>G (p.Cys231Trp) http://identifiers.org/clinvar/251399 ^@ NM_000527.4(LDLR):c.693_694+20del22 http://identifiers.org/clinvar/251401 ^@ NM_001195800.1(LDLR):c.314-1792_314-827del http://identifiers.org/clinvar/251402 ^@ NM_000527.4(LDLR):c.694+1G>A http://identifiers.org/clinvar/251403 ^@ NM_000527.4(LDLR):c.694+1G>T http://identifiers.org/clinvar/251404 ^@ NM_000527.4(LDLR):c.694+4dupT http://identifiers.org/clinvar/251405 ^@ NM_000527.4(LDLR):c.694+5_694+15dup http://identifiers.org/clinvar/251406 ^@ NM_000527.4(LDLR):c.694+25C>T http://identifiers.org/clinvar/251407 ^@ NG_009060.1:g.21829_24193del2365 http://identifiers.org/clinvar/251408 ^@ NM_000527.4(LDLR):c.695-105G>C http://identifiers.org/clinvar/251409 ^@ NG_009060.1:g.22118_29753del7636 http://identifiers.org/clinvar/251410 ^@ NM_000527.4(LDLR):c.695-13T>C http://identifiers.org/clinvar/251411 ^@ NM_000527.4(LDLR):c.695-6_698delTTCCAGCTGT http://identifiers.org/clinvar/251415 ^@ NM_000527.4(LDLR):c.695-1G>T http://identifiers.org/clinvar/251416 ^@ NM_000527.4(LDLR):c.703dupA (p.Thr235Asnfs) http://identifiers.org/clinvar/251417 ^@ NM_000527.4(LDLR):c.705_791del87 (p.Cys236_Met264del) http://identifiers.org/clinvar/251418 ^@ NM_000527.4(LDLR):c.705dupC (p.Cys236Leufs) http://identifiers.org/clinvar/251419 ^@ NM_000527.4(LDLR):c.706T>C (p.Cys236Arg) http://identifiers.org/clinvar/251420 ^@ NM_000527.4(LDLR):c.708dupT (p.Arg237Serfs) http://identifiers.org/clinvar/251421 ^@ NM_000527.4(LDLR):c.709C>T (p.Arg237Cys) http://identifiers.org/clinvar/251422 ^@ NM_000527.4(LDLR):c.718G>T (p.Glu240Ter) http://identifiers.org/clinvar/251423 ^@ NM_000527.4(LDLR):c.722T>C (p.Phe241Ser) http://identifiers.org/clinvar/251424 ^@ NM_000527.4(LDLR):c.724C>T (p.Gln242Ter) http://identifiers.org/clinvar/251425 ^@ NM_000527.4(LDLR):c.727T>C (p.Cys243Arg) http://identifiers.org/clinvar/251427 ^@ NM_000527.4(LDLR):c.737G>A (p.Gly246Glu) http://identifiers.org/clinvar/251426 ^@ NM_000527.4(LDLR):c.737delG (p.Gly246Glufs) http://identifiers.org/clinvar/251428 ^@ NM_000527.4(LDLR):c.742T>G (p.Cys248Gly) http://identifiers.org/clinvar/251429 ^@ NM_000527.4(LDLR):c.743G>A (p.Cys248Tyr) http://identifiers.org/clinvar/251430 ^@ NM_000527.4(LDLR):c.743G>T (p.Cys248Phe) http://identifiers.org/clinvar/251431 ^@ NM_000527.4(LDLR):c.744C>A (p.Cys248Ter) http://identifiers.org/clinvar/251432 ^@ NM_000527.4(LDLR):c.746T>C (p.Ile249Thr) http://identifiers.org/clinvar/251433 ^@ NM_000527.4(LDLR):c.750T>C (p.His250=) http://identifiers.org/clinvar/251434 ^@ NM_000527.4(LDLR):c.752dupG (p.Ser252Glnfs) http://identifiers.org/clinvar/251435 ^@ NM_000527.4(LDLR):c.758G>C (p.Arg253Pro) http://identifiers.org/clinvar/251436 ^@ NM_000527.4(LDLR):c.760C>T (p.Gln254Ter) http://identifiers.org/clinvar/251437 ^@ NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) http://identifiers.org/clinvar/251439 ^@ NM_000527.4(LDLR):c.762G>T (p.Gln254His) http://identifiers.org/clinvar/251438 ^@ NM_000527.4(LDLR):c.762_763invGT (p.Cys255Arg) http://identifiers.org/clinvar/251440 ^@ NM_000527.4(LDLR):c.763T>A (p.Cys255Ser) http://identifiers.org/clinvar/251441 ^@ NM_000527.4(LDLR):c.763T>C (p.Cys255Arg) http://identifiers.org/clinvar/251442 ^@ NM_000527.4(LDLR):c.763T>G (p.Cys255Gly) http://identifiers.org/clinvar/251443 ^@ NM_000527.4(LDLR):c.764G>A (p.Cys255Tyr) http://identifiers.org/clinvar/251444 ^@ NM_000527.4(LDLR):c.767A>G (p.Asp256Gly) http://identifiers.org/clinvar/251445 ^@ NM_000527.4(LDLR):c.768C>G (p.Asp256Glu) http://identifiers.org/clinvar/251446 ^@ NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) http://identifiers.org/clinvar/251447 ^@ NM_000527.4(LDLR):c.770G>T (p.Arg257Leu) http://identifiers.org/clinvar/251448 ^@ NM_000527.4(LDLR):c.772G>A (p.Glu258Lys) http://identifiers.org/clinvar/251449 ^@ NM_000527.4(LDLR):c.772G>T (p.Glu258Ter) http://identifiers.org/clinvar/251450 ^@ NM_000527.4(LDLR):c.776_777delAT (p.Tyr259Terfs) http://identifiers.org/clinvar/251451 ^@ NM_000527.4(LDLR):c.781delT (p.Cys261Alafs) http://identifiers.org/clinvar/251453 ^@ NM_000527.4(LDLR):c.790A>G (p.Met264Val) http://identifiers.org/clinvar/251452 ^@ NM_000527.4(LDLR):c.790_793delATGA (p.Met264Alafs) http://identifiers.org/clinvar/251454 ^@ NM_000527.4(LDLR):c.793A>T (p.Ser265Cys) http://identifiers.org/clinvar/251456 ^@ NM_000527.4(LDLR):c.796G>T (p.Asp266Tyr) http://identifiers.org/clinvar/251455 ^@ NM_000527.4(LDLR):c.796_799delGATG (p.Asp266Lysfs) http://identifiers.org/clinvar/251457 ^@ NM_000527.4(LDLR):c.797A>G (p.Asp266Gly) http://identifiers.org/clinvar/251458 ^@ NM_000527.4(LDLR):c.797A>T (p.Asp266Val) http://identifiers.org/clinvar/251459 ^@ NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) http://identifiers.org/clinvar/251460 ^@ NM_000527.4(LDLR):c.800A>C (p.Glu267Ala) http://identifiers.org/clinvar/251461 ^@ NM_000527.4(LDLR):c.801A>T (p.Glu267Asp) http://identifiers.org/clinvar/251462 ^@ NM_000527.4(LDLR):c.808T>A (p.Cys270Ser) http://identifiers.org/clinvar/251463 ^@ NM_000527.4(LDLR):c.808T>C (p.Cys270Arg) http://identifiers.org/clinvar/251464 ^@ NM_000527.4(LDLR):c.809G>A (p.Cys270Tyr) http://identifiers.org/clinvar/251465 ^@ NM_000527.4(LDLR):c.810C>A (p.Cys270Ter) http://identifiers.org/clinvar/251466 ^@ NM_000527.4(LDLR):c.810C>T (p.Cys270=) http://identifiers.org/clinvar/251467 ^@ NM_000527.4(LDLR):c.814_817delAATG (p.Asn272Terfs) http://identifiers.org/clinvar/251468 ^@ NM_000527.4(LDLR):c.815A>C (p.Asn272Thr) http://identifiers.org/clinvar/251469 ^@ NM_000527.4(LDLR):c.817+1G>A http://identifiers.org/clinvar/251470 ^@ NM_000527.4(LDLR):c.817+2T>C http://identifiers.org/clinvar/251471 ^@ NM_000527.4(LDLR):c.818-2A>G http://identifiers.org/clinvar/251475 ^@ NM_000527.4(LDLR):c.818-1G>A http://identifiers.org/clinvar/251477 ^@ NM_000527.4(LDLR):c.820A>T (p.Thr274Ser) http://identifiers.org/clinvar/251476 ^@ NM_000527.4(LDLR):c.820_827delACACTCTG (p.Thr274Argfs) http://identifiers.org/clinvar/251478 ^@ NM_000527.4(LDLR):c.825_826delCT (p.Cys276Argfs) http://identifiers.org/clinvar/251479 ^@ NM_000527.4(LDLR):c.826T>C (p.Cys276Arg) http://identifiers.org/clinvar/251480 ^@ NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) http://identifiers.org/clinvar/251481 ^@ NM_000527.4(LDLR):c.827G>A (p.Cys276Tyr) http://identifiers.org/clinvar/251482 ^@ NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) http://identifiers.org/clinvar/251483 ^@ NM_000527.4(LDLR):c.850T>A (p.Cys284Ser) http://identifiers.org/clinvar/251484 ^@ NM_000527.4(LDLR):c.850T>C (p.Cys284Arg) http://identifiers.org/clinvar/251485 ^@ NM_000527.4(LDLR):c.850T>G (p.Cys284Gly) http://identifiers.org/clinvar/251486 ^@ NM_000527.4(LDLR):c.851G>C (p.Cys284Ser) http://identifiers.org/clinvar/251487 ^@ NM_000527.4(LDLR):c.855C>A (p.His285Gln) http://identifiers.org/clinvar/251488 ^@ NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) http://identifiers.org/clinvar/251489 ^@ NM_000527.4(LDLR):c.859G>T (p.Gly287Cys) http://identifiers.org/clinvar/251490 ^@ NM_000527.4(LDLR):c.862G>T (p.Glu288Ter) http://identifiers.org/clinvar/251492 ^@ NM_000527.4(LDLR):c.865T>C (p.Cys289Arg) http://identifiers.org/clinvar/251491 ^@ NM_000527.4(LDLR):c.865delT (p.Cys289Alafs) http://identifiers.org/clinvar/251494 ^@ NM_000527.4(LDLR):c.869T>G (p.Ile290Ser) http://identifiers.org/clinvar/251493 ^@ NM_000527.4(LDLR):c.869_871dupTCA (p.Ile290_Thr291insIle) http://identifiers.org/clinvar/251495 ^@ NM_000527.4(LDLR):c.874delC (p.Leu292Trpfs) http://identifiers.org/clinvar/251496 ^@ NM_000527.4(LDLR):c.875dupT (p.Asp293Glyfs) http://identifiers.org/clinvar/251497 ^@ NM_000527.4(LDLR):c.877delG (p.Asp293Thrfs) http://identifiers.org/clinvar/251498 ^@ NM_000527.4(LDLR):c.880A>G (p.Lys294Glu) http://identifiers.org/clinvar/251499 ^@ NM_000527.4(LDLR):c.881_882delAA (p.Lys294Serfs) http://identifiers.org/clinvar/251500 ^@ NM_000527.4(LDLR):c.884delT (p.Val295Alafs) http://identifiers.org/clinvar/251502 ^@ NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) http://identifiers.org/clinvar/251503 ^@ NM_000527.4(LDLR):c.887G>C (p.Cys296Ser) http://identifiers.org/clinvar/251501 ^@ NM_000527.4(LDLR):c.887_889delGCAinsAGC (p.Cys296Ter) http://identifiers.org/clinvar/251504 ^@ NM_000527.4(LDLR):c.888C>A (p.Cys296Ter) http://identifiers.org/clinvar/251505 ^@ NM_000527.4(LDLR):c.889A>C (p.Asn297His) http://identifiers.org/clinvar/251506 ^@ NM_000527.4(LDLR):c.890delA (p.Asn297Thrfs) http://identifiers.org/clinvar/251507 ^@ NM_000527.4(LDLR):c.895G>A (p.Ala299Thr) http://identifiers.org/clinvar/251508 ^@ NM_000527.4(LDLR):c.895G>T (p.Ala299Ser) http://identifiers.org/clinvar/251509 ^@ NM_000527.4(LDLR):c.896delC (p.Ala299Valfs) http://identifiers.org/clinvar/251510 ^@ NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) http://identifiers.org/clinvar/251511 ^@ NM_000527.4(LDLR):c.898A>T (p.Arg300Ter) http://identifiers.org/clinvar/251512 ^@ NM_000527.4(LDLR):c.901G>T (p.Asp301Tyr) http://identifiers.org/clinvar/251513 ^@ NM_000527.4(LDLR):c.902A>C (p.Asp301Ala) http://identifiers.org/clinvar/251514 ^@ NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) http://identifiers.org/clinvar/251515 ^@ NM_000527.4(LDLR):c.905G>A (p.Cys302Tyr) http://identifiers.org/clinvar/251516 ^@ NM_000527.4(LDLR):c.906C>G (p.Cys302Trp) http://identifiers.org/clinvar/251517 ^@ NM_000527.4(LDLR):c.910G>T (p.Asp304Tyr) http://identifiers.org/clinvar/251518 ^@ NM_000527.4(LDLR):c.914G>A (p.Trp305Ter) http://identifiers.org/clinvar/251519 ^@ NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) http://identifiers.org/clinvar/251520 ^@ NM_000527.4(LDLR):c.915G>A (p.Trp305Ter) http://identifiers.org/clinvar/251521 ^@ NM_000527.4(LDLR):c.915G>C (p.Trp305Cys) http://identifiers.org/clinvar/251522 ^@ NM_000527.4(LDLR):c.916_919dupTCAG (p.Asp307Valfs) http://identifiers.org/clinvar/251523 ^@ NM_000527.4(LDLR):c.917C>A (p.Ser306Ter) http://identifiers.org/clinvar/251524 ^@ NM_000527.4(LDLR):c.917C>G (p.Ser306Ter) http://identifiers.org/clinvar/251525 ^@ NM_000527.4(LDLR):c.919G>A (p.Asp307Asn) http://identifiers.org/clinvar/251526 ^@ NM_000527.4(LDLR):c.919G>C (p.Asp307His) http://identifiers.org/clinvar/251527 ^@ NM_000527.4(LDLR):c.921T>G (p.Asp307Glu) http://identifiers.org/clinvar/251528 ^@ NM_000527.4(LDLR):c.922G>A (p.Glu308Lys) http://identifiers.org/clinvar/251529 ^@ NM_000527.4(LDLR):c.929T>C (p.Ile310Thr) http://identifiers.org/clinvar/251531 ^@ NM_000527.4(LDLR):c.932A>C (p.Lys311Thr) http://identifiers.org/clinvar/251532 ^@ NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) http://identifiers.org/clinvar/251530 ^@ NM_000527.4(LDLR):c.932_933delAA (p.Lys311Argfs) http://identifiers.org/clinvar/251533 ^@ NM_000527.4(LDLR):c.933delA (p.Glu312Serfs) http://identifiers.org/clinvar/251534 ^@ NM_000527.4(LDLR):c.934G>T (p.Glu312Ter) http://identifiers.org/clinvar/251535 ^@ NM_000527.4(LDLR):c.935_936delAG (p.Glu312Valfs) http://identifiers.org/clinvar/251536 ^@ NM_000527.4(LDLR):c.936_940delGTGCG (p.Cys313Aspfs) http://identifiers.org/clinvar/251537 ^@ NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) http://identifiers.org/clinvar/251538 ^@ NM_000527.4(LDLR):c.937T>G (p.Cys313Gly) http://identifiers.org/clinvar/251539 ^@ NM_000527.4(LDLR):c.939C>A (p.Cys313Ter) http://identifiers.org/clinvar/251540 ^@ NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) http://identifiers.org/clinvar/251541 ^@ NM_000527.4(LDLR):c.940+1G>A http://identifiers.org/clinvar/251542 ^@ NM_000527.4(LDLR):c.940+1G>C http://identifiers.org/clinvar/251543 ^@ NM_000527.4(LDLR):c.940+2T>A http://identifiers.org/clinvar/251544 ^@ NM_000527.4(LDLR):c.940+14delC http://identifiers.org/clinvar/251545 ^@ NM_000527.4(LDLR):c.940+16G>A http://identifiers.org/clinvar/251546 ^@ NC_000019.10:g.11107686_11138384del30699 http://identifiers.org/clinvar/251547 ^@ NG_009060.1:g.23979_27790del3812 http://identifiers.org/clinvar/251548 ^@ NM_000527.4(LDLR):c.941-39C>T http://identifiers.org/clinvar/251549 ^@ NM_000527.4(LDLR):c.941-38C>T http://identifiers.org/clinvar/251550 ^@ NM_000527.4(LDLR):c.941-14dupC http://identifiers.org/clinvar/251551 ^@ NM_000527.4(LDLR):c.941-13T>A http://identifiers.org/clinvar/251552 ^@ NM_000527.4(LDLR):c.941-12G>A http://identifiers.org/clinvar/251553 ^@ NM_000527.4(LDLR):c.941-2A>C http://identifiers.org/clinvar/251554 ^@ NM_000527.4(LDLR):c.941-2A>G http://identifiers.org/clinvar/251564 ^@ NM_000527.4(LDLR):c.941-1G>A http://identifiers.org/clinvar/251565 ^@ NM_000527.4(LDLR):c.946_994del49 (p.Asn316Leufs) http://identifiers.org/clinvar/251566 ^@ NM_000527.4(LDLR):c.947A>C (p.Asn316Thr) http://identifiers.org/clinvar/251567 ^@ NM_000527.4(LDLR):c.949G>A (p.Glu317Lys) http://identifiers.org/clinvar/251568 ^@ NM_000527.4(LDLR):c.949G>T (p.Glu317Ter) http://identifiers.org/clinvar/251569 ^@ NM_000527.4(LDLR):c.951delA (p.Glu317Aspfs) http://identifiers.org/clinvar/251570 ^@ NM_000527.4(LDLR):c.952T>C (p.Cys318Arg) http://identifiers.org/clinvar/251571 ^@ NM_000527.4(LDLR):c.953G>A (p.Cys318Tyr) http://identifiers.org/clinvar/251572 ^@ NM_000527.4(LDLR):c.953G>T (p.Cys318Phe) http://identifiers.org/clinvar/251573 ^@ NM_000527.4(LDLR):c.961_962delAA (p.Asn321Glnfs) http://identifiers.org/clinvar/251574 ^@ NM_000527.4(LDLR):c.964_966delAAC (p.Asn322del) http://identifiers.org/clinvar/251575 ^@ NM_000527.4(LDLR):c.965A>T (p.Asn322Ile) http://identifiers.org/clinvar/251576 ^@ NM_000527.4(LDLR):c.968delG (p.Gly323Alafs) http://identifiers.org/clinvar/251577 ^@ NM_000527.4(LDLR):c.969C>T (p.Gly323=) http://identifiers.org/clinvar/251578 ^@ NM_000527.4(LDLR):c.969delC (p.Gly324Alafs) http://identifiers.org/clinvar/251579 ^@ NM_000527.4(LDLR):c.971delG (p.Gly324Alafs) http://identifiers.org/clinvar/251580 ^@ NM_000527.4(LDLR):c.974G>A (p.Cys325Tyr) http://identifiers.org/clinvar/251581 ^@ NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) http://identifiers.org/clinvar/251582 ^@ NM_000527.4(LDLR):c.977C>T (p.Ser326Phe) http://identifiers.org/clinvar/251583 ^@ NM_000527.4(LDLR):c.979C>T (p.His327Tyr) http://identifiers.org/clinvar/251584 ^@ NM_000527.4(LDLR):c.980dupA (p.His327Glnfs) http://identifiers.org/clinvar/251585 ^@ NM_000527.4(LDLR):c.985T>G (p.Cys329Gly) http://identifiers.org/clinvar/251586 ^@ NM_000527.4(LDLR):c.986G>T (p.Cys329Phe) http://identifiers.org/clinvar/251587 ^@ NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) http://identifiers.org/clinvar/251588 ^@ NM_000527.4(LDLR):c.1007A>G (p.Tyr336Cys) http://identifiers.org/clinvar/251589 ^@ NM_000527.4(LDLR):c.1008C>A (p.Tyr336Ter) http://identifiers.org/clinvar/251590 ^@ NM_000527.4(LDLR):c.1008delC (p.Tyr336Terfs) http://identifiers.org/clinvar/251591 ^@ NM_000527.4(LDLR):c.1009_1032del24 (p.Glu337_Phe344del) http://identifiers.org/clinvar/251592 ^@ NM_000527.4(LDLR):c.1012T>A (p.Cys338Ser) http://identifiers.org/clinvar/251593 ^@ NM_000527.4(LDLR):c.1012T>C (p.Cys338Arg) http://identifiers.org/clinvar/251594 ^@ NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) http://identifiers.org/clinvar/251595 ^@ NM_000527.4(LDLR):c.1013G>A (p.Cys338Tyr) http://identifiers.org/clinvar/251596 ^@ NM_000527.4(LDLR):c.1014C>A (p.Cys338Ter) http://identifiers.org/clinvar/251597 ^@ NM_000527.4(LDLR):c.1016T>C (p.Leu339Pro) http://identifiers.org/clinvar/251598 ^@ NM_000527.4(LDLR):c.1017dupG (p.Cys340Valfs) http://identifiers.org/clinvar/251600 ^@ NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) http://identifiers.org/clinvar/251599 ^@ NM_000527.4(LDLR):c.1019_1020delGCinsTG (p.Cys340Leu) http://identifiers.org/clinvar/251601 ^@ NM_000527.4(LDLR):c.1020C>G (p.Cys340Trp) http://identifiers.org/clinvar/251602 ^@ NM_000527.4(LDLR):c.1022C>G (p.Pro341Arg) http://identifiers.org/clinvar/251603 ^@ NM_000527.4(LDLR):c.1024G>T (p.Asp342Tyr) http://identifiers.org/clinvar/251604 ^@ NM_000527.4(LDLR):c.1026C>G (p.Asp342Glu) http://identifiers.org/clinvar/251605 ^@ NM_000527.4(LDLR):c.1027G>T (p.Gly343Cys) http://identifiers.org/clinvar/251606 ^@ NM_000527.4(LDLR):c.1028G>A (p.Gly343Asp) http://identifiers.org/clinvar/251607 ^@ NM_000527.4(LDLR):c.1031delT (p.Phe344Serfs) http://identifiers.org/clinvar/251608 ^@ NM_000527.4(LDLR):c.1034dupA (p.Leu346Alafs) http://identifiers.org/clinvar/251609 ^@ NM_000527.4(LDLR):c.1042_1043insA (p.Ala348Aspfs) http://identifiers.org/clinvar/251610 ^@ NM_000527.4(LDLR):c.1042delG (p.Ala348Profs) http://identifiers.org/clinvar/251611 ^@ NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) http://identifiers.org/clinvar/251612 ^@ NM_000527.4(LDLR):c.1045delC (p.Gln349Serfs) http://identifiers.org/clinvar/251613 ^@ NM_000527.4(LDLR):c.1045dupC (p.Gln349Profs) http://identifiers.org/clinvar/251614 ^@ NM_000527.4(LDLR):c.1046delA (p.Gln349Argfs) http://identifiers.org/clinvar/251615 ^@ NM_000527.4(LDLR):c.1053_1060dupATGCGAAG (p.Ile355Alafs) http://identifiers.org/clinvar/251617 ^@ NM_000527.4(LDLR):c.1054T>A (p.Cys352Ser) http://identifiers.org/clinvar/251618 ^@ NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg) http://identifiers.org/clinvar/251616 ^@ NG_009060.1:g.26385_27137del753 http://identifiers.org/clinvar/251619 ^@ NM_000527.4(LDLR):c.1055G>T (p.Cys352Phe) http://identifiers.org/clinvar/251621 ^@ NM_000527.4(LDLR):c.1056C>A (p.Cys352Ter) http://identifiers.org/clinvar/251622 ^@ NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) http://identifiers.org/clinvar/251620 ^@ NM_000527.4(LDLR):c.1056_1060+3delCGAAGGTG http://identifiers.org/clinvar/251623 ^@ NM_000527.4(LDLR):c.1060+1G>A http://identifiers.org/clinvar/251624 ^@ NM_000527.4(LDLR):c.1060+1G>T http://identifiers.org/clinvar/251625 ^@ NM_000527.4(LDLR):c.1060+10G>A http://identifiers.org/clinvar/251626 ^@ NM_000527.4(LDLR):c.1060+16dupG http://identifiers.org/clinvar/251627 ^@ NM_000527.4(LDLR):c.1060+24C>A http://identifiers.org/clinvar/251628 ^@ NM_000527.4(LDLR):c.1060+26T>G http://identifiers.org/clinvar/251629 ^@ NM_000527.4(LDLR):c.1060+39C>G http://identifiers.org/clinvar/251630 ^@ NM_000527.4(LDLR):c.1060+40G>A http://identifiers.org/clinvar/251631 ^@ NM_000527.4(LDLR):c.1060+59A>C http://identifiers.org/clinvar/251632 ^@ NM_000527.4(LDLR):c.1061-2A>G http://identifiers.org/clinvar/251636 ^@ NM_000527.4(LDLR):c.1061-1G>A http://identifiers.org/clinvar/251637 ^@ NM_000527.4(LDLR):c.1061-1G>C http://identifiers.org/clinvar/251638 ^@ NM_000527.4(LDLR):c.1061A>C (p.Asp354Ala) http://identifiers.org/clinvar/251639 ^@ NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) http://identifiers.org/clinvar/251640 ^@ NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) http://identifiers.org/clinvar/264663 ^@ NG_009060.1:g.27134_32618del5485 http://identifiers.org/clinvar/264662 ^@ NG_009060.1:g.27134_45290dup18157 http://identifiers.org/clinvar/251641 ^@ NM_000527.4(LDLR):c.1062dupT (p.Ile355Tyrfs) http://identifiers.org/clinvar/251642 ^@ NM_000527.4(LDLR):c.1063A>G (p.Ile355Val) http://identifiers.org/clinvar/251643 ^@ NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) http://identifiers.org/clinvar/251644 ^@ NM_000527.4(LDLR):c.1066G>C (p.Asp356His) http://identifiers.org/clinvar/251645 ^@ NM_000527.4(LDLR):c.1067A>C (p.Asp356Ala) http://identifiers.org/clinvar/251646 ^@ NM_000527.4(LDLR):c.1067delA (p.Asp356Valfs) http://identifiers.org/clinvar/251647 ^@ NM_000527.4(LDLR):c.1068delTinsAGAGTGTCAGGATCCCGAC (p.Ile355_Asp356insGluGluCysGlnAspPro) http://identifiers.org/clinvar/251649 ^@ NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) http://identifiers.org/clinvar/251648 ^@ NM_000527.4(LDLR):c.1069_1086dup18 (p.Asp362_Thr363insGluCysGlnAspProAsp) http://identifiers.org/clinvar/251651 ^@ NM_000527.4(LDLR):c.1070A>G (p.Glu357Gly) http://identifiers.org/clinvar/251650 ^@ NM_000527.4(LDLR):c.1070_1073dupAGTG (p.Cys358Terfs) http://identifiers.org/clinvar/251652 ^@ NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg) http://identifiers.org/clinvar/251653 ^@ NM_000527.4(LDLR):c.1075C>T (p.Gln359Ter) http://identifiers.org/clinvar/251654 ^@ NM_000527.4(LDLR):c.1076_1081delAGGATC (p.Gln359_Asp360del) http://identifiers.org/clinvar/251655 ^@ NM_000527.4(LDLR):c.1085delA (p.Asp362Alafs) http://identifiers.org/clinvar/251656 ^@ NM_000527.4(LDLR):c.1088C>A (p.Thr363Asn) http://identifiers.org/clinvar/251657 ^@ NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) http://identifiers.org/clinvar/251658 ^@ NM_000527.4(LDLR):c.1091G>C (p.Cys364Ser) http://identifiers.org/clinvar/251659 ^@ NM_000527.4(LDLR):c.1091G>T (p.Cys364Phe) http://identifiers.org/clinvar/251660 ^@ NM_000527.4(LDLR):c.1096C>T (p.Gln366Ter) http://identifiers.org/clinvar/251661 ^@ NM_000527.4(LDLR):c.1097A>C (p.Gln366Pro) http://identifiers.org/clinvar/251662 ^@ NM_000527.4(LDLR):c.1097A>G (p.Gln366Arg) http://identifiers.org/clinvar/251663 ^@ NM_000527.4(LDLR):c.1099_1104delCTCTGCinsGT (p.Leu367Valfs) http://identifiers.org/clinvar/251664 ^@ NM_000527.4(LDLR):c.1102T>G (p.Cys368Gly) http://identifiers.org/clinvar/251665 ^@ NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) http://identifiers.org/clinvar/251666 ^@ NM_000527.4(LDLR):c.1103G>C (p.Cys368Ser) http://identifiers.org/clinvar/251667 ^@ NM_000527.4(LDLR):c.1104C>A (p.Cys368Ter) http://identifiers.org/clinvar/251668 ^@ NM_000527.4(LDLR):c.1109A>C (p.Asn370Thr) http://identifiers.org/clinvar/251669 ^@ NM_000527.4(LDLR):c.1110C>G (p.Asn370Lys) http://identifiers.org/clinvar/251670 ^@ NM_000527.4(LDLR):c.1113_1114insTGGG (p.Glu372Trpfs) http://identifiers.org/clinvar/251671 ^@ NM_000527.4(LDLR):c.1115_1123delAGGGTGGCTinsCACTGA (p.Glu372_Tyr375delinsAlaLeuAsn) http://identifiers.org/clinvar/251672 ^@ NM_000527.4(LDLR):c.1117G>T (p.Gly373Cys) http://identifiers.org/clinvar/251673 ^@ NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) http://identifiers.org/clinvar/251674 ^@ NM_000527.4(LDLR):c.1118G>T (p.Gly373Val) http://identifiers.org/clinvar/251675 ^@ NM_000527.4(LDLR):c.1120_1121delGGinsTC (p.Gly374Ser) http://identifiers.org/clinvar/251676 ^@ NM_000527.4(LDLR):c.1120_1123dupGGCT (p.Tyr375Trpfs) http://identifiers.org/clinvar/251677 ^@ NM_000527.4(LDLR):c.1123_1124insC (p.Tyr375Serfs) http://identifiers.org/clinvar/251678 ^@ NM_000527.4(LDLR):c.1124A>C (p.Tyr375Ser) http://identifiers.org/clinvar/251679 ^@ NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) http://identifiers.org/clinvar/251680 ^@ NM_000527.4(LDLR):c.1129T>G (p.Cys377Gly) http://identifiers.org/clinvar/251681 ^@ NM_000527.4(LDLR):c.1130G>A (p.Cys377Tyr) http://identifiers.org/clinvar/251682 ^@ NM_000527.4(LDLR):c.1130G>C (p.Cys377Ser) http://identifiers.org/clinvar/251683 ^@ NM_000527.4(LDLR):c.1132C>T (p.Gln378Ter) http://identifiers.org/clinvar/251684 ^@ NM_000527.4(LDLR):c.1133_1186+12del http://identifiers.org/clinvar/251685 ^@ NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) http://identifiers.org/clinvar/251686 ^@ NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr) http://identifiers.org/clinvar/251687 ^@ NM_000527.4(LDLR):c.1145G>T (p.Gly382Val) http://identifiers.org/clinvar/251688 ^@ NM_000527.4(LDLR):c.1150C>T (p.Gln384Ter) http://identifiers.org/clinvar/251690 ^@ NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) http://identifiers.org/clinvar/251689 ^@ NM_000527.4(LDLR):c.1151_1159delAGCTGGACC (p.Gln384_Asp386del) http://identifiers.org/clinvar/251691 ^@ NM_000527.4(LDLR):c.1153C>G (p.Leu385Val) http://identifiers.org/clinvar/251692 ^@ NM_000527.4(LDLR):c.1154T>G (p.Leu385Arg) http://identifiers.org/clinvar/251693 ^@ NM_000527.4(LDLR):c.1158C>G (p.Asp386Glu) http://identifiers.org/clinvar/251694 ^@ NM_000527.4(LDLR):c.1168A>T (p.Lys390Ter) http://identifiers.org/clinvar/251695 ^@ NM_000527.4(LDLR):c.1173delC (p.Cys392Alafs) http://identifiers.org/clinvar/251697 ^@ NM_000527.4(LDLR):c.1174T>C (p.Cys392Arg) http://identifiers.org/clinvar/251696 ^@ NM_000527.4(LDLR):c.1174dupT (p.Cys392Leufs) http://identifiers.org/clinvar/251699 ^@ NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) http://identifiers.org/clinvar/251698 ^@ NM_000527.4(LDLR):c.1178delA (p.Lys393Argfs) http://identifiers.org/clinvar/251700 ^@ NM_000527.4(LDLR):c.1179G>C (p.Lys393Asn) http://identifiers.org/clinvar/251701 ^@ NM_000527.4(LDLR):c.1182delT (p.Val395Trpfs) http://identifiers.org/clinvar/251702 ^@ NM_000527.4(LDLR):c.1185G>C (p.Val395=) http://identifiers.org/clinvar/251704 ^@ NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) http://identifiers.org/clinvar/251703 ^@ NM_000527.4(LDLR):c.1186delG (p.Gly396Alafs) http://identifiers.org/clinvar/251705 ^@ NM_000527.4(LDLR):c.1186+1G>A http://identifiers.org/clinvar/251706 ^@ NM_000527.4(LDLR):c.1186+5G>A http://identifiers.org/clinvar/251707 ^@ NM_000527.4(LDLR):c.1186+10G>C http://identifiers.org/clinvar/251708 ^@ NM_000527.4(LDLR):c.1186+11G>A http://identifiers.org/clinvar/251709 ^@ NM_000527.4(LDLR):c.1186+29C>A http://identifiers.org/clinvar/251710 ^@ NM_000527.4(LDLR):c.1186+41T>A http://identifiers.org/clinvar/251711 ^@ NG_009060.1:g.27959_38249del10291 http://identifiers.org/clinvar/251712 ^@ NG_009060.1:g.28729_42838del14110 http://identifiers.org/clinvar/251713 ^@ NM_000527.4(LDLR):c.1187-2A>G http://identifiers.org/clinvar/251723 ^@ NM_000527.4(LDLR):c.1187-1G>A http://identifiers.org/clinvar/251724 ^@ NM_000527.4(LDLR):c.1187-1G>T http://identifiers.org/clinvar/251725 ^@ NM_000527.4(LDLR):c.1189T>A (p.Ser397Thr) http://identifiers.org/clinvar/251726 ^@ NG_009060.1:g.28908_38858del9951 http://identifiers.org/clinvar/251727 ^@ NM_000527.4(LDLR):c.1199_1207delACCTCTTCT (p.Tyr400_Phe402del) http://identifiers.org/clinvar/251728 ^@ NM_000527.4(LDLR):c.1200C>A (p.Tyr400Ter) http://identifiers.org/clinvar/251729 ^@ NM_000527.4(LDLR):c.1205dupT (p.Phe403Leufs) http://identifiers.org/clinvar/251730 ^@ NM_000527.4(LDLR):c.1206_1207delCT (p.Phe403Hisfs) http://identifiers.org/clinvar/251732 ^@ NM_000527.4(LDLR):c.1207T>C (p.Phe403Leu) http://identifiers.org/clinvar/251731 ^@ NM_000527.4(LDLR):c.1207_1209delTTC (p.Phe403del) http://identifiers.org/clinvar/251733 ^@ NM_000527.4(LDLR):c.1208delT (p.Phe403Serfs) http://identifiers.org/clinvar/251734 ^@ NM_000527.4(LDLR):c.1209delC (p.Phe403Leufs) http://identifiers.org/clinvar/251735 ^@ NM_000527.4(LDLR):c.1210A>C (p.Thr404Pro) http://identifiers.org/clinvar/251736 ^@ NM_000527.4(LDLR):c.1211C>T (p.Thr404Ile) http://identifiers.org/clinvar/251737 ^@ NM_000527.4(LDLR):c.1214A>C (p.Asn405Thr) http://identifiers.org/clinvar/251738 ^@ NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) http://identifiers.org/clinvar/251739 ^@ NM_000527.4(LDLR):c.1223A>C (p.Glu408Ala) http://identifiers.org/clinvar/251740 ^@ NM_000527.4(LDLR):c.1223A>T (p.Glu408Val) http://identifiers.org/clinvar/251741 ^@ NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) http://identifiers.org/clinvar/251742 ^@ NM_000527.4(LDLR):c.1230G>T (p.Arg410Ser) http://identifiers.org/clinvar/251743 ^@ NM_000527.4(LDLR):c.1231A>G (p.Lys411Glu) http://identifiers.org/clinvar/251744 ^@ NM_000527.4(LDLR):c.1233delG (p.Met412Terfs) http://identifiers.org/clinvar/251745 ^@ NM_000527.4(LDLR):c.1235T>C (p.Met412Thr) http://identifiers.org/clinvar/251746 ^@ NM_000527.4(LDLR):c.1236G>A (p.Met412Ile) http://identifiers.org/clinvar/251747 ^@ NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) http://identifiers.org/clinvar/251748 ^@ NM_000527.4(LDLR):c.1243G>C (p.Asp415His) http://identifiers.org/clinvar/251749 ^@ NM_000527.4(LDLR):c.1244A>G (p.Asp415Gly) http://identifiers.org/clinvar/251750 ^@ NM_000527.4(LDLR):c.1244A>T (p.Asp415Val) http://identifiers.org/clinvar/251751 ^@ NM_000527.4(LDLR):c.1245_1249dupCCGGA (p.Ser417Thrfs) http://identifiers.org/clinvar/251752 ^@ NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) http://identifiers.org/clinvar/251753 ^@ NM_000527.4(LDLR):c.1247G>C (p.Arg416Pro) http://identifiers.org/clinvar/251754 ^@ NM_000527.4(LDLR):c.1247G>T (p.Arg416Leu) http://identifiers.org/clinvar/251755 ^@ NM_000527.4(LDLR):c.1252G>T (p.Glu418Ter) http://identifiers.org/clinvar/251756 ^@ NM_000527.4(LDLR):c.1255T>C (p.Tyr419His) http://identifiers.org/clinvar/251757 ^@ NM_000527.4(LDLR):c.1257C>A (p.Tyr419Ter) http://identifiers.org/clinvar/251758 ^@ NM_000527.4(LDLR):c.1257C>G (p.Tyr419Ter) http://identifiers.org/clinvar/251759 ^@ NM_000527.4(LDLR):c.1265T>C (p.Leu422Pro) http://identifiers.org/clinvar/251760 ^@ NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) http://identifiers.org/clinvar/251761 ^@ NG_009060.1:g.28983_28984ins(96) http://identifiers.org/clinvar/251762 ^@ NM_000527.4(LDLR):c.1274A>T (p.Asn425Ile) http://identifiers.org/clinvar/251763 ^@ NM_000527.4(LDLR):c.1277T>C (p.Leu426Pro) http://identifiers.org/clinvar/251764 ^@ NM_000527.4(LDLR):c.1279A>C (p.Arg427=) http://identifiers.org/clinvar/251765 ^@ NM_000527.4(LDLR):c.1283A>G (p.Asn428Ser) http://identifiers.org/clinvar/251766 ^@ NM_000527.4(LDLR):c.1284C>G (p.Asn428Lys) http://identifiers.org/clinvar/251767 ^@ NM_000527.4(LDLR):c.1285G>T (p.Val429Leu) http://identifiers.org/clinvar/251768 ^@ NM_000527.4(LDLR):c.1288G>C (p.Val430Leu) http://identifiers.org/clinvar/251769 ^@ NM_000527.4(LDLR):c.1291_1331del41 (p.Ala431Terfs) http://identifiers.org/clinvar/251770 ^@ NM_000527.4(LDLR):c.1295T>C (p.Leu432Pro) http://identifiers.org/clinvar/251771 ^@ NM_000527.4(LDLR):c.1296_1298delGGA (p.Asp433del) http://identifiers.org/clinvar/251772 ^@ NM_000527.4(LDLR):c.1297G>T (p.Asp433Tyr) http://identifiers.org/clinvar/251773 ^@ NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) http://identifiers.org/clinvar/251774 ^@ NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) http://identifiers.org/clinvar/251775 ^@ NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) http://identifiers.org/clinvar/251776 ^@ NM_000527.4(LDLR):c.1303delG (p.Glu435Argfs) http://identifiers.org/clinvar/251777 ^@ NM_000527.4(LDLR):c.1306delG (p.Val436Trpfs) http://identifiers.org/clinvar/251778 ^@ NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) http://identifiers.org/clinvar/251779 ^@ NM_000527.4(LDLR):c.1309dupG (p.Ala437Glyfs) http://identifiers.org/clinvar/251780 ^@ NM_000527.4(LDLR):c.1317T>G (p.Asn439Lys) http://identifiers.org/clinvar/251781 ^@ NM_000527.4(LDLR):c.1318A>G (p.Arg440Gly) http://identifiers.org/clinvar/251782 ^@ NM_000527.4(LDLR):c.1322T>A (p.Ile441Asn) http://identifiers.org/clinvar/251783 ^@ NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) http://identifiers.org/clinvar/251784 ^@ NM_000527.4(LDLR):c.1323C>G (p.Ile441Met) http://identifiers.org/clinvar/251785 ^@ NM_000527.4(LDLR):c.1324T>A (p.Tyr442Asn) http://identifiers.org/clinvar/251786 ^@ NM_000527.4(LDLR):c.1324T>C (p.Tyr442His) http://identifiers.org/clinvar/251787 ^@ NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) http://identifiers.org/clinvar/251788 ^@ NM_000527.4(LDLR):c.1326C>G (p.Tyr442Ter) http://identifiers.org/clinvar/251789 ^@ NM_000527.4(LDLR):c.1328G>A (p.Trp443Ter) http://identifiers.org/clinvar/251790 ^@ NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) http://identifiers.org/clinvar/251791 ^@ NM_000527.4(LDLR):c.1329G>A (p.Trp443Ter) http://identifiers.org/clinvar/251792 ^@ NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) http://identifiers.org/clinvar/251793 ^@ NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) http://identifiers.org/clinvar/251794 ^@ NM_000527.4(LDLR):c.1335C>A (p.Asp445Glu) http://identifiers.org/clinvar/251795 ^@ NM_000527.4(LDLR):c.1336delC (p.Leu446Cysfs) http://identifiers.org/clinvar/251796 ^@ NM_000527.4(LDLR):c.1339T>C (p.Ser447Pro) http://identifiers.org/clinvar/251797 ^@ NM_000527.4(LDLR):c.1340C>G (p.Ser447Cys) http://identifiers.org/clinvar/251798 ^@ NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter) http://identifiers.org/clinvar/251799 ^@ NM_000527.4(LDLR):c.1343delA (p.Gln448Argfs) http://identifiers.org/clinvar/251800 ^@ NM_000527.4(LDLR):c.1351A>T (p.Ile451Phe) http://identifiers.org/clinvar/251801 ^@ NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) http://identifiers.org/clinvar/251802 ^@ NM_000527.4(LDLR):c.1358+1G>A http://identifiers.org/clinvar/251803 ^@ NM_000527.4(LDLR):c.1358+1G>T http://identifiers.org/clinvar/251804 ^@ NM_000527.4(LDLR):c.1358+3_1358+8delGAGCGT http://identifiers.org/clinvar/251805 ^@ NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT http://identifiers.org/clinvar/251806 ^@ NM_000527.4(LDLR):c.1359-30C>T http://identifiers.org/clinvar/251807 ^@ NM_000527.4(LDLR):c.1359-29G>A http://identifiers.org/clinvar/251808 ^@ NM_000527.4(LDLR):c.1359-5C>G http://identifiers.org/clinvar/251809 ^@ NM_000527.4(LDLR):c.1359-4T>C http://identifiers.org/clinvar/251810 ^@ NM_000527.4(LDLR):c.1359-3C>T http://identifiers.org/clinvar/251811 ^@ NM_000527.4(LDLR):c.1359-1G>C http://identifiers.org/clinvar/251812 ^@ NM_000527.4(LDLR):c.1361C>A (p.Thr454Asn) http://identifiers.org/clinvar/251813 ^@ NM_000527.4(LDLR):c.1363C>T (p.Gln455Ter) http://identifiers.org/clinvar/251814 ^@ NM_000527.4(LDLR):c.1363delC (p.Gln455Serfs) http://identifiers.org/clinvar/251815 ^@ NM_000527.4(LDLR):c.1365delG (p.Gln455Hisfs) http://identifiers.org/clinvar/251817 ^@ NM_000527.4(LDLR):c.1367T>A (p.Leu456His) http://identifiers.org/clinvar/251816 ^@ NM_000527.4(LDLR):c.1367_1376delTTGACAGAGC (p.Leu456Profs) http://identifiers.org/clinvar/251818 ^@ NM_000527.4(LDLR):c.1374_1375delAG (p.Arg458Serfs) http://identifiers.org/clinvar/251819 ^@ NM_000527.4(LDLR):c.1376C>G (p.Ala459Gly) http://identifiers.org/clinvar/251820 ^@ NM_000527.4(LDLR):c.1377_1380delCCAC (p.His460Alafs) http://identifiers.org/clinvar/251821 ^@ NM_000527.4(LDLR):c.1379_1396del18insCAGCTTA (p.His460Profs) http://identifiers.org/clinvar/251822 ^@ NM_000527.4(LDLR):c.1379_1402del24insCAGCTTGACCCGC (p.His460Profs) http://identifiers.org/clinvar/251823 ^@ NM_000527.4(LDLR):c.1383C>T (p.Gly461=) http://identifiers.org/clinvar/251824 ^@ NM_000527.4(LDLR):c.1384G>A (p.Val462Ile) http://identifiers.org/clinvar/251825 ^@ NM_000527.4(LDLR):c.1392delC (p.Tyr465Metfs) http://identifiers.org/clinvar/251826 ^@ NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) http://identifiers.org/clinvar/251827 ^@ NM_000527.4(LDLR):c.1400C>T (p.Thr467Ile) http://identifiers.org/clinvar/251828 ^@ NM_000527.4(LDLR):c.1403T>A (p.Val468Asp) http://identifiers.org/clinvar/251829 ^@ NM_000527.4(LDLR):c.1411A>G (p.Arg471Gly) http://identifiers.org/clinvar/251830 ^@ NM_000527.4(LDLR):c.1415_1418dupACAT (p.Gln474Hisfs) http://identifiers.org/clinvar/251832 ^@ NM_000527.4(LDLR):c.1417A>G (p.Ile473Val) http://identifiers.org/clinvar/251831 ^@ NM_000527.4(LDLR):c.1417_1431delATCCAGGCCCCCGAC (p.Ile473_Asp477del) http://identifiers.org/clinvar/251833 ^@ NM_000527.4(LDLR):c.1418T>A (p.Ile473Asn) http://identifiers.org/clinvar/251834 ^@ NM_000527.4(LDLR):c.1420C>T (p.Gln474Ter) http://identifiers.org/clinvar/251835 ^@ NM_000527.4(LDLR):c.1423_1424delGCinsA (p.Ala475Thrfs) http://identifiers.org/clinvar/251836 ^@ NM_000527.4(LDLR):c.1424C>T (p.Ala475Val) http://identifiers.org/clinvar/251837 ^@ NM_000527.4(LDLR):c.1426C>T (p.Pro476Ser) http://identifiers.org/clinvar/251838 ^@ NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) http://identifiers.org/clinvar/251839 ^@ NM_000527.4(LDLR):c.1434delG (p.Leu479Trpfs) http://identifiers.org/clinvar/251840 ^@ NM_000527.4(LDLR):c.1436T>C (p.Leu479Pro) http://identifiers.org/clinvar/251841 ^@ NM_000527.4(LDLR):c.1438G>C (p.Ala480Pro) http://identifiers.org/clinvar/251842 ^@ NM_000527.4(LDLR):c.1439_1449delCTGTGGACTGG (p.Ala480Aspfs) http://identifiers.org/clinvar/251843 ^@ NM_000527.4(LDLR):c.1441G>A (p.Val481Met) http://identifiers.org/clinvar/251844 ^@ NM_000527.4(LDLR):c.1444G>C (p.Asp482His) http://identifiers.org/clinvar/251845 ^@ NM_000527.4(LDLR):c.1444G>T (p.Asp482Tyr) http://identifiers.org/clinvar/251846 ^@ NM_000527.4(LDLR):c.1445A>G (p.Asp482Gly) http://identifiers.org/clinvar/251847 ^@ NM_000527.4(LDLR):c.1447T>C (p.Trp483Arg) http://identifiers.org/clinvar/251849 ^@ NM_000527.4(LDLR):c.1449G>A (p.Trp483Ter) http://identifiers.org/clinvar/251850 ^@ NM_000527.4(LDLR):c.1449G>T (p.Trp483Cys) http://identifiers.org/clinvar/251848 ^@ NM_000527.4(LDLR):c.1454A>G (p.His485Arg) http://identifiers.org/clinvar/251851 ^@ NM_000527.4(LDLR):c.1455C>G (p.His485Gln) http://identifiers.org/clinvar/251852 ^@ NM_000527.4(LDLR):c.1456A>G (p.Ser486Gly) http://identifiers.org/clinvar/251853 ^@ NM_000527.4(LDLR):c.1457G>A (p.Ser486Asn) http://identifiers.org/clinvar/251855 ^@ NM_000527.4(LDLR):c.1460A>G (p.Asn487Ser) http://identifiers.org/clinvar/251854 ^@ NM_000527.4(LDLR):c.1460_1462delACA (p.Asn487del) http://identifiers.org/clinvar/251856 ^@ NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn) http://identifiers.org/clinvar/251857 ^@ NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) http://identifiers.org/clinvar/251858 ^@ NM_000527.4(LDLR):c.1463T>G (p.Ile488Ser) http://identifiers.org/clinvar/251859 ^@ NM_000527.4(LDLR):c.1466A>G (p.Tyr489Cys) http://identifiers.org/clinvar/251860 ^@ NM_000527.4(LDLR):c.1468T>G (p.Trp490Gly) http://identifiers.org/clinvar/251861 ^@ NM_000527.4(LDLR):c.1470G>A (p.Trp490Ter) http://identifiers.org/clinvar/251862 ^@ NM_000527.4(LDLR):c.1471dupA (p.Thr491Asnfs) http://identifiers.org/clinvar/251863 ^@ NM_000527.4(LDLR):c.1472C>A (p.Thr491Asn) http://identifiers.org/clinvar/251864 ^@ NM_000527.4(LDLR):c.1474G>C (p.Asp492His) http://identifiers.org/clinvar/251865 ^@ NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) http://identifiers.org/clinvar/251866 ^@ NM_000527.4(LDLR):c.1477_1479delTCTinsAGAGACA (p.Ser493Argfs) http://identifiers.org/clinvar/251867 ^@ NM_000527.4(LDLR):c.1487G>T (p.Gly496Val) http://identifiers.org/clinvar/251868 ^@ NM_000527.4(LDLR):c.1489A>C (p.Thr497Pro) http://identifiers.org/clinvar/251869 ^@ NM_000527.4(LDLR):c.1492G>T (p.Val498Phe) http://identifiers.org/clinvar/251870 ^@ NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) http://identifiers.org/clinvar/251871 ^@ NM_000527.4(LDLR):c.1496_1497delCT (p.Ser499Cysfs) http://identifiers.org/clinvar/251872 ^@ NM_000527.4(LDLR):c.1498_1499delGT (p.Val500Cysfs) http://identifiers.org/clinvar/251873 ^@ NM_000527.4(LDLR):c.1502C>A (p.Ala501Glu) http://identifiers.org/clinvar/251874 ^@ NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) http://identifiers.org/clinvar/251875 ^@ NM_000527.4(LDLR):c.1502dupC (p.Asp502Glyfs) http://identifiers.org/clinvar/251876 ^@ NM_000527.4(LDLR):c.1503G>A (p.Ala501=) http://identifiers.org/clinvar/251877 ^@ NM_000527.4(LDLR):c.1504G>T (p.Asp502Tyr) http://identifiers.org/clinvar/251878 ^@ NM_000527.4(LDLR):c.1510A>T (p.Lys504Ter) http://identifiers.org/clinvar/251879 ^@ NM_000527.4(LDLR):c.1514G>A (p.Gly505Asp) http://identifiers.org/clinvar/251881 ^@ NM_000527.4(LDLR):c.1516G>A (p.Val506Met) http://identifiers.org/clinvar/251880 ^@ NM_000527.4(LDLR):c.1516_1562del47 (p.Val506Hisfs) http://identifiers.org/clinvar/251882 ^@ NM_000527.4(LDLR):c.1519A>G (p.Lys507Glu) http://identifiers.org/clinvar/251883 ^@ NM_000527.4(LDLR):c.1520A>C (p.Lys507Thr) http://identifiers.org/clinvar/251884 ^@ NM_000527.4(LDLR):c.1522delAinsCTGAAT (p.Arg508Leufs) http://identifiers.org/clinvar/251885 ^@ NM_000527.4(LDLR):c.1525A>G (p.Lys509Glu) http://identifiers.org/clinvar/251886 ^@ NM_000527.4(LDLR):c.1529C>T (p.Thr510Met) http://identifiers.org/clinvar/251887 ^@ NM_000527.4(LDLR):c.1532T>C (p.Leu511Ser) http://identifiers.org/clinvar/251888 ^@ NM_000527.4(LDLR):c.1532T>G (p.Leu511Ter) http://identifiers.org/clinvar/251889 ^@ NM_000527.4(LDLR):c.1533dupA (p.Phe512Ilefs) http://identifiers.org/clinvar/251890 ^@ NM_000527.4(LDLR):c.1538G>A (p.Arg513Lys) http://identifiers.org/clinvar/251891 ^@ NM_000527.4(LDLR):c.1545C>T (p.Asn515=) http://identifiers.org/clinvar/251893 ^@ NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) http://identifiers.org/clinvar/251892 ^@ NM_000527.4(LDLR):c.1549_1555delTCCAAGC (p.Ser517Glnfs) http://identifiers.org/clinvar/251894 ^@ NM_000527.4(LDLR):c.1552A>G (p.Lys518Glu) http://identifiers.org/clinvar/251895 ^@ NM_000527.4(LDLR):c.1553A>G (p.Lys518Arg) http://identifiers.org/clinvar/251896 ^@ NM_000527.4(LDLR):c.1555C>T (p.Pro519Ser) http://identifiers.org/clinvar/251897 ^@ NM_000527.4(LDLR):c.1558A>G (p.Arg520Gly) http://identifiers.org/clinvar/251898 ^@ NM_000527.4(LDLR):c.1561G>A (p.Ala521Thr) http://identifiers.org/clinvar/251900 ^@ NM_000527.4(LDLR):c.1567G>T (p.Val523Leu) http://identifiers.org/clinvar/251899 ^@ NM_000527.4(LDLR):c.1567_1575delGTGGTGGAT (p.Val523_Asp525del) http://identifiers.org/clinvar/251901 ^@ NM_000527.4(LDLR):c.1571T>G (p.Val524Gly) http://identifiers.org/clinvar/251902 ^@ NM_000527.4(LDLR):c.1574A>T (p.Asp525Val) http://identifiers.org/clinvar/251903 ^@ NM_000527.4(LDLR):c.1576C>A (p.Pro526Thr) http://identifiers.org/clinvar/251904 ^@ NM_000527.4(LDLR):c.1577C>G (p.Pro526Arg) http://identifiers.org/clinvar/251905 ^@ NM_000527.4(LDLR):c.1586+1G>A http://identifiers.org/clinvar/251906 ^@ NM_000527.4(LDLR):c.1586+1G>T http://identifiers.org/clinvar/251907 ^@ NM_000527.4(LDLR):c.1586+2T>A http://identifiers.org/clinvar/251908 ^@ NM_000527.4(LDLR):c.1586+2T>C http://identifiers.org/clinvar/251909 ^@ NM_000527.4(LDLR):c.1586+5G>A http://identifiers.org/clinvar/251910 ^@ NM_000527.4(LDLR):c.1587-51G>T http://identifiers.org/clinvar/251911 ^@ NM_000527.4(LDLR):c.1587-2A>G http://identifiers.org/clinvar/251912 ^@ NM_000527.4(LDLR):c.1587-2A>T http://identifiers.org/clinvar/251922 ^@ NM_000527.4(LDLR):c.1587-1G>A http://identifiers.org/clinvar/251923 ^@ NM_000527.4(LDLR):c.1587_1591delCTTCA (p.Phe530Valfs) http://identifiers.org/clinvar/251924 ^@ NM_000527.4(LDLR):c.1592_1627del36 (p.Met531_Ile542del) http://identifiers.org/clinvar/251925 ^@ NM_000527.4(LDLR):c.1597T>C (p.Trp533Arg) http://identifiers.org/clinvar/251926 ^@ NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) http://identifiers.org/clinvar/251927 ^@ NM_000527.4(LDLR):c.1599G>A (p.Trp533Ter) http://identifiers.org/clinvar/251928 ^@ NM_000527.4(LDLR):c.1600_1608delACTGACTGG (p.Thr534_Trp536del) http://identifiers.org/clinvar/251929 ^@ NM_000527.4(LDLR):c.1601C>A (p.Thr534Asn) http://identifiers.org/clinvar/251930 ^@ NM_000527.4(LDLR):c.1603G>T (p.Asp535Tyr) http://identifiers.org/clinvar/251931 ^@ NM_000527.4(LDLR):c.1606T>G (p.Trp536Gly) http://identifiers.org/clinvar/251932 ^@ NM_000527.4(LDLR):c.1607G>A (p.Trp536Ter) http://identifiers.org/clinvar/251933 ^@ NM_000527.4(LDLR):c.1609G>T (p.Gly537Ter) http://identifiers.org/clinvar/251934 ^@ NM_000527.4(LDLR):c.1610delG (p.Gly537Glufs) http://identifiers.org/clinvar/251935 ^@ NM_000527.4(LDLR):c.1612A>T (p.Thr538Ser) http://identifiers.org/clinvar/251936 ^@ NM_000527.4(LDLR):c.1617C>T (p.Pro539=) http://identifiers.org/clinvar/251938 ^@ NM_000527.4(LDLR):c.1618G>T (p.Ala540Ser) http://identifiers.org/clinvar/251937 ^@ NM_000527.4(LDLR):c.1618_1620delGCC (p.Ala540del) http://identifiers.org/clinvar/251939 ^@ NM_000527.4(LDLR):c.1625T>G (p.Ile542Ser) http://identifiers.org/clinvar/251940 ^@ NM_000527.4(LDLR):c.1629_1652del24 (p.Lys543_Asp551delinsAsn) http://identifiers.org/clinvar/251941 ^@ NM_000527.4(LDLR):c.1632delA (p.Gly546Alafs) http://identifiers.org/clinvar/251942 ^@ NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) http://identifiers.org/clinvar/251943 ^@ NM_000527.4(LDLR):c.1633G>C (p.Gly545Arg) http://identifiers.org/clinvar/251944 ^@ NM_000527.4(LDLR):c.1633G>T (p.Gly545Trp) http://identifiers.org/clinvar/251945 ^@ NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu) http://identifiers.org/clinvar/251946 ^@ NM_000527.4(LDLR):c.1636G>C (p.Gly546Arg) http://identifiers.org/clinvar/251947 ^@ NM_000527.4(LDLR):c.1637G>T (p.Gly546Val) http://identifiers.org/clinvar/251949 ^@ NM_000527.4(LDLR):c.1640T>C (p.Leu547Pro) http://identifiers.org/clinvar/251948 ^@ NM_000527.4(LDLR):c.1640_1652delTGAATGGTGTGGAinsAGCGTCATCTTCCTGAC (p.Leu547Glnfs) http://identifiers.org/clinvar/251951 ^@ NM_000527.4(LDLR):c.1644T>A (p.Asn548Lys) http://identifiers.org/clinvar/251952 ^@ NM_000527.4(LDLR):c.1644T>G (p.Asn548Lys) http://identifiers.org/clinvar/251950 ^@ NM_000527.4(LDLR):c.1644_1645insC (p.Gly549Argfs) http://identifiers.org/clinvar/251953 ^@ NM_000527.4(LDLR):c.1645_1646insC (p.Gly549Alafs) http://identifiers.org/clinvar/251955 ^@ NM_000527.4(LDLR):c.1646G>T (p.Gly549Val) http://identifiers.org/clinvar/251956 ^@ NM_000527.4(LDLR):c.1651delG (p.Asp551Thrfs) http://identifiers.org/clinvar/251954 ^@ NM_000527.4(LDLR):c.1655delT (p.Ile552Thrfs) http://identifiers.org/clinvar/251957 ^@ NM_000527.4(LDLR):c.1658A>G (p.Tyr553Cys) http://identifiers.org/clinvar/251958 ^@ NM_000527.4(LDLR):c.1659_1661delCTCinsATACTTTCA (p.Tyr553_Ala860del) http://identifiers.org/clinvar/251959 ^@ NM_000527.4(LDLR):c.1661C>A (p.Ser554Ter) http://identifiers.org/clinvar/251960 ^@ NM_000527.4(LDLR):c.1661C>T (p.Ser554Leu) http://identifiers.org/clinvar/251961 ^@ NM_000527.4(LDLR):c.1662_1669dupGCTGGTGA (p.Thr557Serfs) http://identifiers.org/clinvar/251962 ^@ NM_000527.4(LDLR):c.1664T>C (p.Leu555Pro) http://identifiers.org/clinvar/251963 ^@ NM_000527.4(LDLR):c.1671_1672delTG (p.Glu558Lysfs) http://identifiers.org/clinvar/251964 ^@ NM_000527.4(LDLR):c.1672G>T (p.Glu558Ter) http://identifiers.org/clinvar/251965 ^@ NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) http://identifiers.org/clinvar/251966 ^@ NM_000527.4(LDLR):c.1683delG (p.Gln561Hisfs) http://identifiers.org/clinvar/251967 ^@ NM_000527.4(LDLR):c.1684_1686dupTGG (p.Trp562_Pro563insTrp) http://identifiers.org/clinvar/251969 ^@ NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) http://identifiers.org/clinvar/251968 ^@ NM_000527.4(LDLR):c.1686_1693delGCCCAATGinsT (p.Trp562Cysfs) http://identifiers.org/clinvar/251970 ^@ NM_000527.4(LDLR):c.1687C>T (p.Pro563Ser) http://identifiers.org/clinvar/251971 ^@ NM_000527.4(LDLR):c.1688C>A (p.Pro563His) http://identifiers.org/clinvar/251972 ^@ NM_000527.4(LDLR):c.1689dupC (p.Asn564Glnfs) http://identifiers.org/clinvar/251973 ^@ NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) http://identifiers.org/clinvar/251974 ^@ NM_000527.4(LDLR):c.1698_1704delCACCCTAinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) http://identifiers.org/clinvar/251976 ^@ NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) http://identifiers.org/clinvar/251975 ^@ NM_000527.4(LDLR):c.1702_1705dupCTAG (p.Asp569Alafs) http://identifiers.org/clinvar/251977 ^@ NM_000527.4(LDLR):c.1703T>C (p.Leu568Pro) http://identifiers.org/clinvar/251979 ^@ NM_000527.4(LDLR):c.1705G>T (p.Asp569Tyr) http://identifiers.org/clinvar/251978 ^@ NM_000527.4(LDLR):c.1705delG (p.Asp569Ilefs) http://identifiers.org/clinvar/251980 ^@ NM_000527.4(LDLR):c.1705+1G>C http://identifiers.org/clinvar/251981 ^@ NM_000527.4(LDLR):c.1705+1G>T http://identifiers.org/clinvar/251982 ^@ NM_000527.4(LDLR):c.1705+2_1705+3insC http://identifiers.org/clinvar/251983 ^@ NM_000527.4(LDLR):c.1705+56C>T http://identifiers.org/clinvar/251984 ^@ NM_000527.4(LDLR):c.1705+112C>G http://identifiers.org/clinvar/251985 ^@ NM_000527.4(LDLR):c.1706-69G>T http://identifiers.org/clinvar/251986 ^@ NM_000527.4(LDLR):c.1706-23T>C http://identifiers.org/clinvar/251987 ^@ NM_000527.4(LDLR):c.1706-2A>C http://identifiers.org/clinvar/251992 ^@ NM_000527.4(LDLR):c.1706-1G>A http://identifiers.org/clinvar/251993 ^@ NM_000527.4(LDLR):c.1706-1G>T http://identifiers.org/clinvar/251994 ^@ NM_000527.4(LDLR):c.1715G>A (p.Ser572Asn) http://identifiers.org/clinvar/251995 ^@ NM_000527.4(LDLR):c.1718delG (p.Gly573Alafs) http://identifiers.org/clinvar/251996 ^@ NM_000527.4(LDLR):c.1721G>A (p.Arg574His) http://identifiers.org/clinvar/251997 ^@ NM_000527.4(LDLR):c.1725C>T (p.Leu575=) http://identifiers.org/clinvar/251998 ^@ NM_000527.4(LDLR):c.1727A>C (p.Tyr576Ser) http://identifiers.org/clinvar/251999 ^@ NM_000527.4(LDLR):c.1727A>G (p.Tyr576Cys) http://identifiers.org/clinvar/252001 ^@ NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) http://identifiers.org/clinvar/252000 ^@ NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) http://identifiers.org/clinvar/252003 ^@ NM_000527.4(LDLR):c.1730G>C (p.Trp577Ser) http://identifiers.org/clinvar/252002 ^@ NM_000527.4(LDLR):c.1730_1738delGGGTTGACT (p.Trp577_Asp579del) http://identifiers.org/clinvar/252004 ^@ NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) http://identifiers.org/clinvar/252006 ^@ NM_000527.4(LDLR):c.1735G>A (p.Asp579Asn) http://identifiers.org/clinvar/252005 ^@ NM_000527.4(LDLR):c.1735_1736insTCG (p.Val578_Asp579insVal) http://identifiers.org/clinvar/252007 ^@ NM_000527.4(LDLR):c.1736A>C (p.Asp579Ala) http://identifiers.org/clinvar/252008 ^@ NM_000527.4(LDLR):c.1736A>G (p.Asp579Gly) http://identifiers.org/clinvar/252009 ^@ NM_000527.4(LDLR):c.1737C>G (p.Asp579Glu) http://identifiers.org/clinvar/252010 ^@ NM_000527.4(LDLR):c.1737delC (p.Ser580Profs) http://identifiers.org/clinvar/252011 ^@ NM_000527.4(LDLR):c.1745_1746delTT (p.Leu582Profs) http://identifiers.org/clinvar/252012 ^@ NM_000527.4(LDLR):c.1748A>G (p.His583Arg) http://identifiers.org/clinvar/252014 ^@ NM_000527.4(LDLR):c.1749C>A (p.His583Gln) http://identifiers.org/clinvar/252013 ^@ NM_000527.4(LDLR):c.1749_1753delCTCCA (p.Ser584Leufs) http://identifiers.org/clinvar/252015 ^@ NM_000527.4(LDLR):c.1750T>C (p.Ser584Pro) http://identifiers.org/clinvar/252016 ^@ NM_000527.4(LDLR):c.1752delC (p.Ile585Serfs) http://identifiers.org/clinvar/252017 ^@ NM_000527.4(LDLR):c.1754T>A (p.Ile585Asn) http://identifiers.org/clinvar/252018 ^@ NM_000527.4(LDLR):c.1754T>C (p.Ile585Thr) http://identifiers.org/clinvar/252019 ^@ NM_000527.4(LDLR):c.1756delT (p.Ser586Glnfs) http://identifiers.org/clinvar/252020 ^@ NM_000527.4(LDLR):c.1759delA (p.Ser587Alafs) http://identifiers.org/clinvar/252021 ^@ NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) http://identifiers.org/clinvar/252022 ^@ NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) http://identifiers.org/clinvar/252023 ^@ NM_000527.4(LDLR):c.1766_1767delAT (p.Asp589Glyfs) http://identifiers.org/clinvar/252024 ^@ NM_000527.4(LDLR):c.1766delA (p.Asp589Valfs) http://identifiers.org/clinvar/252025 ^@ NM_000527.4(LDLR):c.1778delG (p.Gly593Alafs) http://identifiers.org/clinvar/252026 ^@ NM_000527.4(LDLR):c.1778dupG (p.Asn594Glnfs) http://identifiers.org/clinvar/252027 ^@ NM_000527.4(LDLR):c.1779delC (p.Asn594Thrfs) http://identifiers.org/clinvar/252029 ^@ NM_000527.4(LDLR):c.1784G>T (p.Arg595Leu) http://identifiers.org/clinvar/252028 ^@ NM_000527.4(LDLR):c.1784_1790delGGAAGAC (p.Arg595Profs) http://identifiers.org/clinvar/252030 ^@ NM_000527.4(LDLR):c.1786A>T (p.Lys596Ter) http://identifiers.org/clinvar/252031 ^@ NM_000527.4(LDLR):c.1789delA (p.Thr597Profs) http://identifiers.org/clinvar/252032 ^@ NM_000527.4(LDLR):c.1792A>C (p.Ile598Leu) http://identifiers.org/clinvar/252033 ^@ NM_000527.4(LDLR):c.1793T>A (p.Ile598Asn) http://identifiers.org/clinvar/252034 ^@ NM_000527.4(LDLR):c.1793T>C (p.Ile598Thr) http://identifiers.org/clinvar/252035 ^@ NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) http://identifiers.org/clinvar/252036 ^@ NM_000527.4(LDLR):c.1796T>G (p.Leu599Trp) http://identifiers.org/clinvar/252037 ^@ NM_000527.4(LDLR):c.1798G>T (p.Glu600Ter) http://identifiers.org/clinvar/252038 ^@ NM_000527.4(LDLR):c.1801G>C (p.Asp601His) http://identifiers.org/clinvar/252039 ^@ NM_000527.4(LDLR):c.1801G>T (p.Asp601Tyr) http://identifiers.org/clinvar/252040 ^@ NM_000527.4(LDLR):c.1802A>T (p.Asp601Val) http://identifiers.org/clinvar/252041 ^@ NM_000527.4(LDLR):c.1802dupA (p.Asp601Glufs) http://identifiers.org/clinvar/252042 ^@ NM_000527.4(LDLR):c.1807A>T (p.Lys603Ter) http://identifiers.org/clinvar/252043 ^@ NM_000527.4(LDLR):c.1809G>C (p.Lys603Asn) http://identifiers.org/clinvar/252044 ^@ NM_000527.4(LDLR):c.1813C>T (p.Leu605=) http://identifiers.org/clinvar/252045 ^@ NM_000527.4(LDLR):c.1815_1825delGGCCCACCCCT (p.Ala606Leufs) http://identifiers.org/clinvar/252046 ^@ NM_000527.4(LDLR):c.1816G>A (p.Ala606Thr) http://identifiers.org/clinvar/252047 ^@ NM_000527.4(LDLR):c.1820A>G (p.His607Arg) http://identifiers.org/clinvar/252048 ^@ NM_000527.4(LDLR):c.1822C>A (p.Pro608Thr) http://identifiers.org/clinvar/252049 ^@ NM_000527.4(LDLR):c.1822C>T (p.Pro608Ser) http://identifiers.org/clinvar/252050 ^@ NM_000527.4(LDLR):c.1823C>G (p.Pro608Arg) http://identifiers.org/clinvar/252051 ^@ NM_000527.4(LDLR):c.1823C>T (p.Pro608Leu) http://identifiers.org/clinvar/252052 ^@ NM_000527.4(LDLR):c.1825T>C (p.Phe609Leu) http://identifiers.org/clinvar/252054 ^@ NM_000527.4(LDLR):c.1829C>G (p.Ser610Cys) http://identifiers.org/clinvar/252055 ^@ NM_000527.4(LDLR):c.1829C>T (p.Ser610Phe) http://identifiers.org/clinvar/252053 ^@ NM_000527.4(LDLR):c.1829_1831delCCT (p.Ser610del) http://identifiers.org/clinvar/252056 ^@ NM_000527.4(LDLR):c.1832dupT (p.Leu611Phefs) http://identifiers.org/clinvar/252058 ^@ NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) http://identifiers.org/clinvar/252059 ^@ NM_000527.4(LDLR):c.1833G>T (p.Leu611Phe) http://identifiers.org/clinvar/252057 ^@ NM_000527.4(LDLR):c.1833_1841delGGCCGTCTT (p.Leu611_Val613del) http://identifiers.org/clinvar/252060 ^@ NM_000527.4(LDLR):c.1834G>T (p.Ala612Ser) http://identifiers.org/clinvar/252061 ^@ NM_000527.4(LDLR):c.1840T>A (p.Phe614Ile) http://identifiers.org/clinvar/252062 ^@ NM_000527.4(LDLR):c.1841_1842delTT (p.Phe614Terfs) http://identifiers.org/clinvar/252063 ^@ NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys) http://identifiers.org/clinvar/252064 ^@ NM_000527.4(LDLR):c.1844A>T (p.Glu615Val) http://identifiers.org/clinvar/252065 ^@ NM_000527.4(LDLR):c.1845G>A (p.Glu615=) http://identifiers.org/clinvar/252067 ^@ NM_000527.4(LDLR):c.1845+1G>A http://identifiers.org/clinvar/252068 ^@ NM_000527.4(LDLR):c.1845+1G>C http://identifiers.org/clinvar/252069 ^@ NM_000527.4(LDLR):c.1845+1G>T http://identifiers.org/clinvar/252066 ^@ NM_000527.4(LDLR):c.1845+1delG http://identifiers.org/clinvar/252070 ^@ NM_000527.4(LDLR):c.1845+2T>C http://identifiers.org/clinvar/252071 ^@ NM_000527.4(LDLR):c.1845+15C>A http://identifiers.org/clinvar/252072 ^@ NM_000527.4(LDLR):c.1846-10G>T http://identifiers.org/clinvar/252073 ^@ NM_000527.4(LDLR):c.1846-2A>C http://identifiers.org/clinvar/252079 ^@ NM_000527.4(LDLR):c.1846-1G>A http://identifiers.org/clinvar/252080 ^@ NM_000527.4(LDLR):c.1846-1G>C http://identifiers.org/clinvar/252081 ^@ NM_000527.4(LDLR):c.1853_1864delTATTTTGGACAG (p.Val618_Thr621del) http://identifiers.org/clinvar/252083 ^@ NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) http://identifiers.org/clinvar/252082 ^@ NM_000527.4(LDLR):c.1855_1856insA (p.Phe619Tyrfs) http://identifiers.org/clinvar/252084 ^@ NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) http://identifiers.org/clinvar/252085 ^@ NM_000527.4(LDLR):c.1856T>G (p.Phe619Cys) http://identifiers.org/clinvar/252086 ^@ NM_000527.4(LDLR):c.1858T>C (p.Trp620Arg) http://identifiers.org/clinvar/252087 ^@ NM_000527.4(LDLR):c.1859G>A (p.Trp620Ter) http://identifiers.org/clinvar/252089 ^@ NM_000527.4(LDLR):c.1860G>A (p.Trp620Ter) http://identifiers.org/clinvar/252090 ^@ NM_000527.4(LDLR):c.1860G>C (p.Trp620Cys) http://identifiers.org/clinvar/252088 ^@ NM_000527.4(LDLR):c.1860dupG (p.Thr621Aspfs) http://identifiers.org/clinvar/252091 ^@ NM_000527.4(LDLR):c.1862C>G (p.Thr621Arg) http://identifiers.org/clinvar/252092 ^@ NM_000527.4(LDLR):c.1864G>A (p.Asp622Asn) http://identifiers.org/clinvar/252093 ^@ NM_000527.4(LDLR):c.1865A>C (p.Asp622Ala) http://identifiers.org/clinvar/252094 ^@ NM_000527.4(LDLR):c.1865A>G (p.Asp622Gly) http://identifiers.org/clinvar/252096 ^@ NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) http://identifiers.org/clinvar/252095 ^@ NM_000527.4(LDLR):c.1867_1868delAT (p.Ile623Hisfs) http://identifiers.org/clinvar/252097 ^@ NM_000527.4(LDLR):c.1871_1873delTCA (p.Ile624del) http://identifiers.org/clinvar/252098 ^@ NM_000527.4(LDLR):c.1872delC (p.Asn625Thrfs) http://identifiers.org/clinvar/252099 ^@ NM_000527.4(LDLR):c.1874A>C (p.Asn625Thr) http://identifiers.org/clinvar/252100 ^@ NM_000527.4(LDLR):c.1876delG (p.Glu626Lysfs) http://identifiers.org/clinvar/252101 ^@ NM_000527.4(LDLR):c.1879G>A (p.Ala627Thr) http://identifiers.org/clinvar/252102 ^@ NM_000527.4(LDLR):c.1880C>T (p.Ala627Val) http://identifiers.org/clinvar/252103 ^@ NM_000527.4(LDLR):c.1883T>C (p.Ile628Thr) http://identifiers.org/clinvar/252105 ^@ NM_000527.4(LDLR):c.1886T>G (p.Phe629Cys) http://identifiers.org/clinvar/252104 ^@ NM_000527.4(LDLR):c.1886delT (p.Phe629Serfs) http://identifiers.org/clinvar/252106 ^@ NM_000527.4(LDLR):c.1892C>A (p.Ala631Asp) http://identifiers.org/clinvar/252107 ^@ NM_000527.4(LDLR):c.1898G>T (p.Arg633Leu) http://identifiers.org/clinvar/252108 ^@ NM_000527.4(LDLR):c.1904C>T (p.Thr635Ile) http://identifiers.org/clinvar/252109 ^@ NM_000527.4(LDLR):c.1906G>A (p.Gly636Ser) http://identifiers.org/clinvar/252110 ^@ NM_000527.4(LDLR):c.1907G>A (p.Gly636Asp) http://identifiers.org/clinvar/252111 ^@ NM_000527.4(LDLR):c.1911C>T (p.Ser637=) http://identifiers.org/clinvar/252112 ^@ NM_000527.4(LDLR):c.1916T>G (p.Val639Gly) http://identifiers.org/clinvar/252113 ^@ NM_000527.4(LDLR):c.1925T>C (p.Leu642Ser) http://identifiers.org/clinvar/252114 ^@ NM_000527.4(LDLR):c.1927G>C (p.Ala643Pro) http://identifiers.org/clinvar/252115 ^@ NM_000527.4(LDLR):c.1928C>T (p.Ala643Val) http://identifiers.org/clinvar/252116 ^@ NM_000527.4(LDLR):c.1934dupA (p.Asn645Lysfs) http://identifiers.org/clinvar/252117 ^@ NM_000527.4(LDLR):c.1935_1936insA (p.Leu646Thrfs) http://identifiers.org/clinvar/252118 ^@ NM_000527.4(LDLR):c.1936C>A (p.Leu646Ile) http://identifiers.org/clinvar/252119 ^@ NM_000527.4(LDLR):c.1936delC (p.Leu646Tyrfs) http://identifiers.org/clinvar/252120 ^@ NM_000527.4(LDLR):c.1942T>C (p.Ser648Pro) http://identifiers.org/clinvar/252121 ^@ NM_000527.4(LDLR):c.1945C>T (p.Pro649Ser) http://identifiers.org/clinvar/252122 ^@ NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) http://identifiers.org/clinvar/252123 ^@ NM_000527.4(LDLR):c.1946delC (p.Pro649Glnfs) http://identifiers.org/clinvar/252124 ^@ NM_000527.4(LDLR):c.1946dupC (p.Glu650Argfs) http://identifiers.org/clinvar/252126 ^@ NM_000527.4(LDLR):c.1948G>A (p.Glu650Lys) http://identifiers.org/clinvar/252125 ^@ NM_000527.4(LDLR):c.1948_1952dupGAGGA (p.Asp651Glufs) http://identifiers.org/clinvar/252127 ^@ NM_000527.4(LDLR):c.1951G>T (p.Asp651Tyr) http://identifiers.org/clinvar/252128 ^@ NM_000527.4(LDLR):c.1952A>T (p.Asp651Val) http://identifiers.org/clinvar/252129 ^@ NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) http://identifiers.org/clinvar/252130 ^@ NM_000527.4(LDLR):c.1958T>G (p.Val653Gly) http://identifiers.org/clinvar/252131 ^@ NM_000527.4(LDLR):c.1959T>C (p.Val653=) http://identifiers.org/clinvar/252132 ^@ NM_000527.4(LDLR):c.1960C>T (p.Leu654Phe) http://identifiers.org/clinvar/252133 ^@ NM_000527.4(LDLR):c.1961_1965dupTCTTC (p.His656Serfs) http://identifiers.org/clinvar/252134 ^@ NM_000527.4(LDLR):c.1964delT (p.Phe655Serfs) http://identifiers.org/clinvar/252135 ^@ NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) http://identifiers.org/clinvar/252136 ^@ NM_000527.4(LDLR):c.1966C>A (p.His656Asn) http://identifiers.org/clinvar/252137 ^@ NM_000527.4(LDLR):c.1968C>G (p.His656Gln) http://identifiers.org/clinvar/252138 ^@ NM_000527.4(LDLR):c.1973T>C (p.Leu658Pro) http://identifiers.org/clinvar/252140 ^@ NM_000527.4(LDLR):c.1975A>C (p.Thr659Pro) http://identifiers.org/clinvar/252139 ^@ NM_000527.4(LDLR):c.1975_1987+16del29 http://identifiers.org/clinvar/252141 ^@ NM_000527.4(LDLR):c.1976C>A (p.Thr659Asn) http://identifiers.org/clinvar/252142 ^@ NM_000527.4(LDLR):c.1977C>A (p.Thr659=) http://identifiers.org/clinvar/252143 ^@ NM_000527.4(LDLR):c.1978C>A (p.Gln660Lys) http://identifiers.org/clinvar/252144 ^@ NM_000527.4(LDLR):c.1979A>G (p.Gln660Arg) http://identifiers.org/clinvar/252145 ^@ NM_000527.4(LDLR):c.1986_1987delAGinsC (p.Arg662Serfs) http://identifiers.org/clinvar/252146 ^@ NM_000527.4(LDLR):c.1987delG (p.Gly663Glufs) http://identifiers.org/clinvar/252147 ^@ NM_000527.4(LDLR):c.1987+1_1987+33del33 http://identifiers.org/clinvar/252148 ^@ NM_000527.4(LDLR):c.1987+8dupT http://identifiers.org/clinvar/252149 ^@ NM_000527.4(LDLR):c.1987+10G>T http://identifiers.org/clinvar/252150 ^@ NM_000527.4(LDLR):c.1988-52_2006del http://identifiers.org/clinvar/252151 ^@ NM_000527.4(LDLR):c.1988-42G>A http://identifiers.org/clinvar/252152 ^@ NM_000527.4(LDLR):c.1988-5C>G http://identifiers.org/clinvar/252153 ^@ NM_000527.4(LDLR):c.1988-2A>T http://identifiers.org/clinvar/252155 ^@ NM_000527.4(LDLR):c.1988G>A (p.Gly663Glu) http://identifiers.org/clinvar/252156 ^@ NM_000527.4(LDLR):c.1990G>A (p.Val664Met) http://identifiers.org/clinvar/252157 ^@ NM_000527.4(LDLR):c.1996_2012del17 (p.Trp666Profs) http://identifiers.org/clinvar/252158 ^@ NM_000527.4(LDLR):c.1997G>A (p.Trp666Ter) http://identifiers.org/clinvar/252159 ^@ NM_000527.4(LDLR):c.1997G>T (p.Trp666Leu) http://identifiers.org/clinvar/252161 ^@ NM_000527.4(LDLR):c.1998G>A (p.Trp666Ter) http://identifiers.org/clinvar/252160 ^@ NM_000527.4(LDLR):c.1998delG (p.Trp666Cysfs) http://identifiers.org/clinvar/252162 ^@ NM_000527.4(LDLR):c.1999T>A (p.Cys667Ser) http://identifiers.org/clinvar/252163 ^@ NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) http://identifiers.org/clinvar/252165 ^@ NM_000527.4(LDLR):c.2000G>T (p.Cys667Phe) http://identifiers.org/clinvar/252164 ^@ NM_000527.4(LDLR):c.2000delG (p.Cys667Leufs) http://identifiers.org/clinvar/252167 ^@ NM_000527.4(LDLR):c.2001T>A (p.Cys667Ter) http://identifiers.org/clinvar/252168 ^@ NM_000527.4(LDLR):c.2001T>G (p.Cys667Trp) http://identifiers.org/clinvar/252166 ^@ NM_000527.4(LDLR):c.2001_2007delTGAGAGG (p.Cys667Terfs) http://identifiers.org/clinvar/252169 ^@ NM_000527.4(LDLR):c.2013_2014delCC (p.Leu672Glufs) http://identifiers.org/clinvar/252170 ^@ NM_000527.4(LDLR):c.2014delC (p.Leu672Terfs) http://identifiers.org/clinvar/252171 ^@ NM_000527.4(LDLR):c.2015delT (p.Leu672Argfs) http://identifiers.org/clinvar/252172 ^@ NM_000527.4(LDLR):c.2017A>C (p.Ser673Arg) http://identifiers.org/clinvar/252173 ^@ NM_000527.4(LDLR):c.2023G>A (p.Gly675Ser) http://identifiers.org/clinvar/252174 ^@ NM_000527.4(LDLR):c.2025C>T (p.Gly675=) http://identifiers.org/clinvar/252175 ^@ NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) http://identifiers.org/clinvar/252176 ^@ NM_000527.4(LDLR):c.2026G>C (p.Gly676Arg) http://identifiers.org/clinvar/252178 ^@ NM_000527.4(LDLR):c.2030G>A (p.Cys677Tyr) http://identifiers.org/clinvar/252177 ^@ NM_000527.4(LDLR):c.2030_2042delGCCAGTATCTGTG (p.Cys677Serfs) http://identifiers.org/clinvar/252179 ^@ NM_000527.4(LDLR):c.2032C>T (p.Gln678Ter) http://identifiers.org/clinvar/252180 ^@ NM_000527.4(LDLR):c.2033_2044delAGTATCTGTGCC (p.Gln678_Cys681del) http://identifiers.org/clinvar/252181 ^@ NM_000527.4(LDLR):c.2035dupT (p.Tyr679Leufs) http://identifiers.org/clinvar/252182 ^@ NM_000527.4(LDLR):c.2036dupA (p.Tyr679Terfs) http://identifiers.org/clinvar/252183 ^@ NM_000527.4(LDLR):c.2037T>A (p.Tyr679Ter) http://identifiers.org/clinvar/252184 ^@ NM_000527.4(LDLR):c.2041T>A (p.Cys681Ser) http://identifiers.org/clinvar/252185 ^@ NM_000527.4(LDLR):c.2041T>G (p.Cys681Gly) http://identifiers.org/clinvar/252186 ^@ NM_000527.4(LDLR):c.2042G>A (p.Cys681Tyr) http://identifiers.org/clinvar/252187 ^@ NM_000527.4(LDLR):c.2042G>C (p.Cys681Ser) http://identifiers.org/clinvar/252188 ^@ NM_000527.4(LDLR):c.2043C>G (p.Cys681Trp) http://identifiers.org/clinvar/252189 ^@ NM_000527.4(LDLR):c.2045T>C (p.Leu682Pro) http://identifiers.org/clinvar/252190 ^@ NM_000527.4(LDLR):c.2046_2049delCCCT (p.Ala684Argfs) http://identifiers.org/clinvar/252192 ^@ NM_000527.4(LDLR):c.2050G>A (p.Ala684Thr) http://identifiers.org/clinvar/252191 ^@ NM_000527.4(LDLR):c.2050_2063delGCCCCGCAGATCAA (p.Ala684Profs) http://identifiers.org/clinvar/252193 ^@ NM_000527.4(LDLR):c.2053C>A (p.Pro685Thr) http://identifiers.org/clinvar/252194 ^@ NM_000527.4(LDLR):c.2053C>T (p.Pro685Ser) http://identifiers.org/clinvar/252195 ^@ NM_000527.4(LDLR):c.2054delC (p.Pro685Argfs) http://identifiers.org/clinvar/252196 ^@ NM_000527.4(LDLR):c.2055_2067delGCAGATCAACCCC (p.Gln686Thrfs) http://identifiers.org/clinvar/252197 ^@ NM_000527.4(LDLR):c.2055delG (p.Gln686Argfs) http://identifiers.org/clinvar/252199 ^@ NM_000527.4(LDLR):c.2056C>T (p.Gln686Ter) http://identifiers.org/clinvar/252198 ^@ NM_000527.4(LDLR):c.2056_2068delCAGATCAACCCCC (p.Gln686Thrfs) http://identifiers.org/clinvar/252200 ^@ NM_000527.4(LDLR):c.2060delT (p.Ile687Thrfs) http://identifiers.org/clinvar/252201 ^@ NM_000527.4(LDLR):c.2060dupT (p.Asn688Glnfs) http://identifiers.org/clinvar/252202 ^@ NM_000527.4(LDLR):c.2063delA (p.Asn688Thrfs) http://identifiers.org/clinvar/252203 ^@ NM_000527.4(LDLR):c.2063dupA (p.Asn688Lysfs) http://identifiers.org/clinvar/252204 ^@ NM_000527.4(LDLR):c.2068C>G (p.His690Asp) http://identifiers.org/clinvar/252205 ^@ NM_000527.4(LDLR):c.2068delC (p.His690Thrfs) http://identifiers.org/clinvar/252206 ^@ NM_000527.4(LDLR):c.2072C>A (p.Ser691Ter) http://identifiers.org/clinvar/252207 ^@ NM_000527.4(LDLR):c.2077_2078delAA (p.Lys693Valfs) http://identifiers.org/clinvar/252208 ^@ NM_000527.4(LDLR):c.2080T>G (p.Phe694Val) http://identifiers.org/clinvar/252209 ^@ NM_000527.4(LDLR):c.2085_2103del19 (p.Ala697Cysfs) http://identifiers.org/clinvar/252210 ^@ NM_000527.4(LDLR):c.2087G>A (p.Cys696Tyr) http://identifiers.org/clinvar/252211 ^@ NM_000527.4(LDLR):c.2088C>A (p.Cys696Ter) http://identifiers.org/clinvar/252212 ^@ NM_000527.4(LDLR):c.2088C>G (p.Cys696Trp) http://identifiers.org/clinvar/252213 ^@ NM_000527.4(LDLR):c.2089G>C (p.Ala697Pro) http://identifiers.org/clinvar/252214 ^@ NM_000527.4(LDLR):c.2092delT (p.Cys698Alafs) http://identifiers.org/clinvar/252215 ^@ NM_000527.4(LDLR):c.2093G>A (p.Cys698Tyr) http://identifiers.org/clinvar/252216 ^@ NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) http://identifiers.org/clinvar/252217 ^@ NM_000527.4(LDLR):c.2094C>G (p.Cys698Trp) http://identifiers.org/clinvar/252219 ^@ NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) http://identifiers.org/clinvar/252218 ^@ NM_000527.4(LDLR):c.2096delC (p.Pro699Argfs) http://identifiers.org/clinvar/252220 ^@ NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) http://identifiers.org/clinvar/252221 ^@ NM_000527.4(LDLR):c.2100C>G (p.Asp700Glu) http://identifiers.org/clinvar/252222 ^@ NM_000527.4(LDLR):c.2108_2111dupTGCT (p.Arg706Glyfs) http://identifiers.org/clinvar/252223 ^@ NM_000527.4(LDLR):c.2108_2114dupTGCTGGC (p.Arg706Alafs) http://identifiers.org/clinvar/252224 ^@ NM_000527.4(LDLR):c.2113G>T (p.Ala705Ser) http://identifiers.org/clinvar/252225 ^@ NM_000527.4(LDLR):c.2119G>A (p.Asp707Asn) http://identifiers.org/clinvar/252226 ^@ NM_000527.4(LDLR):c.2119G>T (p.Asp707Tyr) http://identifiers.org/clinvar/252227 ^@ NM_000527.4(LDLR):c.2120A>T (p.Asp707Val) http://identifiers.org/clinvar/252228 ^@ NM_000527.4(LDLR):c.2131T>A (p.Cys711Ser) http://identifiers.org/clinvar/252229 ^@ NM_000527.4(LDLR):c.2132G>A (p.Cys711Tyr) http://identifiers.org/clinvar/252230 ^@ NM_000527.4(LDLR):c.2132G>C (p.Cys711Ser) http://identifiers.org/clinvar/252231 ^@ NM_000527.4(LDLR):c.2132G>T (p.Cys711Phe) http://identifiers.org/clinvar/252232 ^@ NM_000527.4(LDLR):c.2133C>A (p.Cys711Ter) http://identifiers.org/clinvar/252233 ^@ NM_000527.4(LDLR):c.2140G>A (p.Glu714Lys) http://identifiers.org/clinvar/252234 ^@ NM_000527.4(LDLR):c.2140+1G>C http://identifiers.org/clinvar/252235 ^@ NM_000527.4(LDLR):c.2140+1G>T http://identifiers.org/clinvar/252236 ^@ NM_000527.4(LDLR):c.2140+2T>A http://identifiers.org/clinvar/252237 ^@ NM_000527.4(LDLR):c.2140+2T>C http://identifiers.org/clinvar/252238 ^@ NM_000527.4(LDLR):c.2140+9C>T http://identifiers.org/clinvar/252241 ^@ NM_000527.4(LDLR):c.2146G>A (p.Glu716Lys) http://identifiers.org/clinvar/252242 ^@ NM_000527.4(LDLR):c.2150C>G (p.Ala717Gly) http://identifiers.org/clinvar/252243 ^@ NM_000527.4(LDLR):c.2155G>C (p.Val719Leu) http://identifiers.org/clinvar/252244 ^@ NM_000527.4(LDLR):c.2164C>T (p.Gln722Ter) http://identifiers.org/clinvar/252245 ^@ NM_000527.4(LDLR):c.2167delG (p.Glu723Argfs) http://identifiers.org/clinvar/252246 ^@ NM_000527.4(LDLR):c.2171C>T (p.Thr724Ile) http://identifiers.org/clinvar/252247 ^@ NM_000527.4(LDLR):c.2175delC (p.Thr726Profs) http://identifiers.org/clinvar/252248 ^@ NM_000527.4(LDLR):c.2178delC (p.Val727Serfs) http://identifiers.org/clinvar/252249 ^@ NM_000527.4(LDLR):c.2184delG (p.Arg728Serfs) http://identifiers.org/clinvar/252250 ^@ NM_000527.4(LDLR):c.2186dupT (p.Val731Glyfs) http://identifiers.org/clinvar/252251 ^@ NM_000527.4(LDLR):c.2187_2197delAAAGGTCAGCT (p.Lys730Hisfs) http://identifiers.org/clinvar/252252 ^@ NM_000527.4(LDLR):c.2191_2203dupGTCAGCTCCACAG (p.Ala735Glyfs) http://identifiers.org/clinvar/252253 ^@ NM_000527.4(LDLR):c.2191delG (p.Val731Serfs) http://identifiers.org/clinvar/252254 ^@ NM_000527.4(LDLR):c.2198C>T (p.Ser733Phe) http://identifiers.org/clinvar/252255 ^@ NM_000527.4(LDLR):c.2201_2202delCA (p.Thr734Serfs) http://identifiers.org/clinvar/252256 ^@ NM_000527.4(LDLR):c.2207dupT (p.Arg737Lysfs) http://identifiers.org/clinvar/252257 ^@ NM_000527.4(LDLR):c.2209A>G (p.Arg737Gly) http://identifiers.org/clinvar/252258 ^@ NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) http://identifiers.org/clinvar/252259 ^@ NM_000527.4(LDLR):c.2225C>T (p.Thr742Ile) http://identifiers.org/clinvar/252260 ^@ NM_000527.4(LDLR):c.2226delC (p.Thr743Profs) http://identifiers.org/clinvar/252261 ^@ NM_000527.4(LDLR):c.2230delC (p.Arg744Aspfs) http://identifiers.org/clinvar/252262 ^@ NM_000527.4(LDLR):c.2232A>G (p.Arg744=) http://identifiers.org/clinvar/252263 ^@ NM_000527.4(LDLR):c.2264_2273delCCACCCCTGG (p.Ala755Glyfs) http://identifiers.org/clinvar/252264 ^@ NM_000527.4(LDLR):c.2266delA (p.Thr756Profs) http://identifiers.org/clinvar/252265 ^@ NM_000527.4(LDLR):c.2291T>C (p.Ile764Thr) http://identifiers.org/clinvar/252266 ^@ NM_000527.4(LDLR):c.2294T>G (p.Val765Gly) http://identifiers.org/clinvar/252267 ^@ NM_000527.4(LDLR):c.2296A>G (p.Thr766Ala) http://identifiers.org/clinvar/252269 ^@ NM_000527.4(LDLR):c.2297C>T (p.Thr766Ile) http://identifiers.org/clinvar/252268 ^@ NM_000527.4(LDLR):c.2297_2298delCA (p.Thr766Asnfs) http://identifiers.org/clinvar/252270 ^@ NM_000527.4(LDLR):c.2299delA (p.Met767Cysfs) http://identifiers.org/clinvar/252271 ^@ NM_000527.4(LDLR):c.2308C>T (p.Gln770Ter) http://identifiers.org/clinvar/252272 ^@ NM_000527.4(LDLR):c.2311+1G>A http://identifiers.org/clinvar/252273 ^@ NM_000527.4(LDLR):c.2311+1G>C http://identifiers.org/clinvar/252274 ^@ NM_000527.4(LDLR):c.2311+1G>T http://identifiers.org/clinvar/252275 ^@ NM_000527.4(LDLR):c.2311+2T>G http://identifiers.org/clinvar/252276 ^@ NG_009060.1:g.40905_48152dup7248 http://identifiers.org/clinvar/252277 ^@ NM_000527.4(LDLR):c.2312-136A>G http://identifiers.org/clinvar/252278 ^@ NM_000527.4(LDLR):c.2312-47G>A http://identifiers.org/clinvar/252285 ^@ NM_000527.4(LDLR):c.2317_2318insTA (p.Gly773Valfs) http://identifiers.org/clinvar/252286 ^@ NM_000527.4(LDLR):c.2318delG (p.Gly773Alafs) http://identifiers.org/clinvar/252287 ^@ NM_000527.4(LDLR):c.2322_2342del21 (p.Asp774_Asn780del) http://identifiers.org/clinvar/252288 ^@ NM_000527.4(LDLR):c.2333_2334insC (p.Arg778Serfs) http://identifiers.org/clinvar/252290 ^@ NM_000527.4(LDLR):c.2343G>T (p.Glu781Asp) http://identifiers.org/clinvar/252289 ^@ NM_000527.4(LDLR):c.2343_2347delGAAGA (p.Lys782Alafs) http://identifiers.org/clinvar/252291 ^@ NM_000527.4(LDLR):c.2356A>T (p.Ser786Cys) http://identifiers.org/clinvar/252292 ^@ NM_000527.4(LDLR):c.2360T>A (p.Val787Glu) http://identifiers.org/clinvar/252293 ^@ NM_000527.4(LDLR):c.2364G>T (p.Arg788Ser) http://identifiers.org/clinvar/252294 ^@ NM_000527.4(LDLR):c.2374A>T (p.Ile792Phe) http://identifiers.org/clinvar/252295 ^@ NM_000527.4(LDLR):c.2375T>C (p.Ile792Thr) http://identifiers.org/clinvar/252296 ^@ NM_000527.4(LDLR):c.2384C>A (p.Pro795His) http://identifiers.org/clinvar/252297 ^@ NM_000527.4(LDLR):c.2385delC (p.Ile796Serfs) http://identifiers.org/clinvar/252298 ^@ NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) http://identifiers.org/clinvar/252299 ^@ NM_000527.4(LDLR):c.2389+1G>A http://identifiers.org/clinvar/252300 ^@ NM_000527.4(LDLR):c.2389+1G>T http://identifiers.org/clinvar/252302 ^@ NM_000527.4(LDLR):c.2389+2T>G http://identifiers.org/clinvar/252301 ^@ NM_000527.4(LDLR):c.2389+2_2389+5delinsGGCCCCAT http://identifiers.org/clinvar/252303 ^@ NM_000527.4(LDLR):c.2389+3A>C http://identifiers.org/clinvar/252304 ^@ NM_000527.4(LDLR):c.2389+4A>G http://identifiers.org/clinvar/252305 ^@ NM_000527.4(LDLR):c.2389+4dup http://identifiers.org/clinvar/252306 ^@ NM_000527.4(LDLR):c.2389+5G>A http://identifiers.org/clinvar/252307 ^@ NM_000527.4(LDLR):c.2389+5G>T http://identifiers.org/clinvar/252308 ^@ NM_000527.4(LDLR):c.2389+14G>A http://identifiers.org/clinvar/252309 ^@ NM_000527.4(LDLR):c.2389+23G>A http://identifiers.org/clinvar/252310 ^@ NM_000527.4(LDLR):c.2389+41C>A http://identifiers.org/clinvar/252311 ^@ NM_000527.4(LDLR):c.2389+57C>T http://identifiers.org/clinvar/252312 ^@ NM_000527.4(LDLR):c.2390-16G>A http://identifiers.org/clinvar/252313 ^@ NM_000527.4(LDLR):c.2390-2A>G http://identifiers.org/clinvar/252316 ^@ NM_000527.4(LDLR):c.2390-1G>A http://identifiers.org/clinvar/252317 ^@ NM_000527.4(LDLR):c.2390-1G>C http://identifiers.org/clinvar/252318 ^@ NM_000527.4(LDLR):c.2392_2400delCTCCTCGTC (p.Leu798_Val800del) http://identifiers.org/clinvar/252319 ^@ NM_000527.4(LDLR):c.2395_2397delCTC (p.Leu799del) http://identifiers.org/clinvar/252320 ^@ NM_000527.4(LDLR):c.2396T>G (p.Leu799Arg) http://identifiers.org/clinvar/252321 ^@ NM_000527.4(LDLR):c.2397_2412del16 (p.Val800Glyfs) http://identifiers.org/clinvar/252323 ^@ NM_000527.4(LDLR):c.2399T>A (p.Val800Asp) http://identifiers.org/clinvar/252322 ^@ NM_000527.4(LDLR):c.2399_2403delTCTTCinsGGGT (p.Val800Glyfs) http://identifiers.org/clinvar/252324 ^@ NM_000527.4(LDLR):c.2403_2406delCCTT (p.Leu802Alafs) http://identifiers.org/clinvar/252325 ^@ NM_000527.4(LDLR):c.2407_2424dup18 (p.Leu808_Leu809insCysLeuGlyValPheLeu) http://identifiers.org/clinvar/252326 ^@ NM_000527.4(LDLR):c.2408_2409dupGC (p.Leu804Alafs) http://identifiers.org/clinvar/252327 ^@ NM_000527.4(LDLR):c.2411T>C (p.Leu804Pro) http://identifiers.org/clinvar/252328 ^@ NM_000527.4(LDLR):c.2413G>A (p.Gly805Arg) http://identifiers.org/clinvar/252329 ^@ NM_000527.4(LDLR):c.2416delG (p.Val806Serfs) http://identifiers.org/clinvar/252330 ^@ NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) http://identifiers.org/clinvar/252333 ^@ NM_000527.4(LDLR):c.2417T>A (p.Val806Asp) http://identifiers.org/clinvar/252331 ^@ NM_000527.4(LDLR):c.2417_2418insG (p.Phe807Leufs) http://identifiers.org/clinvar/252332 ^@ NM_000527.4(LDLR):c.2417_2418insGG (p.Phe807Alafs) http://identifiers.org/clinvar/252334 ^@ NM_000527.4(LDLR):c.2420_2426delTCCTTCT (p.Phe807Tyrfs) http://identifiers.org/clinvar/252335 ^@ NM_000527.4(LDLR):c.2430G>A (p.Trp810Ter) http://identifiers.org/clinvar/252336 ^@ NM_000527.4(LDLR):c.2431A>T (p.Lys811Ter) http://identifiers.org/clinvar/252337 ^@ NM_000527.4(LDLR):c.2438G>A (p.Trp813Ter) http://identifiers.org/clinvar/252338 ^@ NM_000527.4(LDLR):c.2446A>T (p.Lys816Ter) http://identifiers.org/clinvar/252339 ^@ NM_000527.4(LDLR):c.2458_2466delAGCATCAAC (p.Ser820_Asn822del) http://identifiers.org/clinvar/252340 ^@ NM_000527.4(LDLR):c.2473A>G (p.Asn825Asp) http://identifiers.org/clinvar/252341 ^@ NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) http://identifiers.org/clinvar/252343 ^@ NM_000527.4(LDLR):c.2476C>A (p.Pro826Thr) http://identifiers.org/clinvar/252342 ^@ NM_000527.4(LDLR):c.2478delC (p.Val827Serfs) http://identifiers.org/clinvar/252344 ^@ NM_000527.4(LDLR):c.2478dupC (p.Val827Argfs) http://identifiers.org/clinvar/252345 ^@ NM_000527.4(LDLR):c.2482T>C (p.Tyr828His) http://identifiers.org/clinvar/252346 ^@ NM_000527.4(LDLR):c.2500_2502delGATinsC (p.Asp834Argfs) http://identifiers.org/clinvar/252347 ^@ NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) http://identifiers.org/clinvar/252348 ^@ NM_000527.4(LDLR):c.2509delC (p.His837Thrfs) http://identifiers.org/clinvar/252349 ^@ NM_000527.4(LDLR):c.2544dupC (p.Ser849Leufs) http://identifiers.org/clinvar/252350 ^@ NM_000527.4(LDLR):c.2546C>A (p.Ser849Ter) http://identifiers.org/clinvar/252351 ^@ NM_000527.4(LDLR):c.2546delC (p.Ser849Terfs) http://identifiers.org/clinvar/252352 ^@ NM_000527.4(LDLR):c.2547+1G>A http://identifiers.org/clinvar/252353 ^@ NM_000527.4(LDLR):c.2547+3G>C http://identifiers.org/clinvar/252354 ^@ NM_000527.4(LDLR):c.2547+5G>C http://identifiers.org/clinvar/252355 ^@ NM_000527.4(LDLR):c.2548-42A>G http://identifiers.org/clinvar/252356 ^@ NM_000527.4(LDLR):c.2548-12A>G http://identifiers.org/clinvar/252357 ^@ NM_000527.4(LDLR):c.2548-2A>G http://identifiers.org/clinvar/252358 ^@ NM_000527.4(LDLR):c.2549G>A (p.Arg850Lys) http://identifiers.org/clinvar/252359 ^@ NM_000527.4(LDLR):c.2552delA (p.Gln851Argfs) http://identifiers.org/clinvar/252360 ^@ NM_000527.4(LDLR):c.2575G>A (p.Val859Met) http://identifiers.org/clinvar/251226 ^@ NM_000527.4(LDLR):c.*43G>A http://identifiers.org/clinvar/250931 ^@ NC_000019.9:g.(?_11200038)_(11200292_11210898)dup http://identifiers.org/clinvar/250932 ^@ NC_000019.9:g.(?_11200038)_(11200292_11210898)del http://identifiers.org/clinvar/250933 ^@ NC_000019.9:g.(?_11200038)_(11211022_11213339)del http://identifiers.org/clinvar/250934 ^@ NC_000019.9:g.(?_11200038)_(11218191_11221327)del http://identifiers.org/clinvar/250935 ^@ NC_000019.9:g.(?_11200038)_(11221448_11222189)del http://identifiers.org/clinvar/250936 ^@ NC_000019.9:g.(?_11200038)_(11222316_11223953)del http://identifiers.org/clinvar/250937 ^@ NC_000019.9:g.(?_11200038)_(11227675_11230767)del http://identifiers.org/clinvar/250938 ^@ NC_000019.9:g.(?_11200038)_(11231199_11233849)del http://identifiers.org/clinvar/250939 ^@ NC_000019.9:g.(?_11200038)_(11234021_11238683)del http://identifiers.org/clinvar/250940 ^@ NC_000019.9:g.(?_11200038)_(11244576_?)del http://identifiers.org/clinvar/250994 ^@ NC_000019.9:g.(11200292_11210898)_(11211022_11213339)del http://identifiers.org/clinvar/250995 ^@ NC_000019.9:g.(11200292_11210898)_(11216277_11217240)del http://identifiers.org/clinvar/250996 ^@ NC_000019.9:g.(11200292_11210898)_(11217364_11218067)del http://identifiers.org/clinvar/250997 ^@ NC_000019.9:g.(11200292_11210898)_(11217364_11218067)dup http://identifiers.org/clinvar/250998 ^@ NC_000019.9:g.(11200292_11210898)_(11222316_11223953)dup http://identifiers.org/clinvar/250999 ^@ NC_000019.9:g.(11200292_11210898)_(11224439_11226769)del http://identifiers.org/clinvar/251000 ^@ NC_000019.9:g.(11200292_11210898)_(11226889_11227534)del http://identifiers.org/clinvar/251001 ^@ NC_000019.9:g.(11200292_11210898)_(11227675_11230767)del http://identifiers.org/clinvar/251002 ^@ NC_000019.9:g.(11200292_11210898)_(11231199_11233849)del http://identifiers.org/clinvar/251003 ^@ NC_000019.9:g.(11200292_11210898)_(11234021_11238683)dup http://identifiers.org/clinvar/251004 ^@ NC_000019.9:g.(11200292_11210898)_(11240347_11241956)del http://identifiers.org/clinvar/251058 ^@ NC_000019.9:g.(11211022_11213339)_(11213463_11215895)del http://identifiers.org/clinvar/251059 ^@ NC_000019.9:g.(11211022_11213339)_(11216277_11217240)del http://identifiers.org/clinvar/251060 ^@ NC_000019.9:g.(11211022_11213339)_(11216277_11217240)dup http://identifiers.org/clinvar/251061 ^@ NC_000019.9:g.(11211022_11213339)_(11217364_11218067)del http://identifiers.org/clinvar/251062 ^@ NC_000019.9:g.(11211022_11213339)_(11217364_11218067)dup http://identifiers.org/clinvar/251063 ^@ NC_000019.9:g.(11211022_11213339)_(11218191_11221327)del http://identifiers.org/clinvar/251064 ^@ NC_000019.9:g.(11211022_11213339)_(11218191_11221327)dup http://identifiers.org/clinvar/251065 ^@ NC_000019.9:g.(11211022_11213339)_(11221448_11222189)del http://identifiers.org/clinvar/251066 ^@ NC_000019.9:g.(11211022_11213339)_(11222316_11223953)dup http://identifiers.org/clinvar/251067 ^@ NC_000019.9:g.(11211022_11213339)_(11224439_11226769)del http://identifiers.org/clinvar/251068 ^@ NC_000019.9:g.(11211022_11213339)_(11227675_11230767)del http://identifiers.org/clinvar/251069 ^@ NC_000019.9:g.(11211022_11213339)_(11227675_11230767)dup http://identifiers.org/clinvar/251070 ^@ NC_000019.9:g.(11211022_11213339)_(11231199_11233849)dup http://identifiers.org/clinvar/251143 ^@ NC_000019.9:g.(11213463_11215895)_(11216277_11217240)del http://identifiers.org/clinvar/251144 ^@ NC_000019.9:g.(11213463_11215895)_(11217364_11218067)dup http://identifiers.org/clinvar/251145 ^@ NC_000019.9:g.(11213463_11215895)_(11218191_11221327)dup http://identifiers.org/clinvar/251146 ^@ NC_000019.9:g.(11213463_11215895)_(11218191_11221327)del http://identifiers.org/clinvar/251147 ^@ NC_000019.9:g.(11213463_11215895)_(11222316_11223953)dup http://identifiers.org/clinvar/251412 ^@ NC_000019.9:g.(11216277_11217240)_(11217364_11218067)del http://identifiers.org/clinvar/251413 ^@ NC_000019.9:g.(11216277_11217240)_(11218191_11221327)del http://identifiers.org/clinvar/251414 ^@ NC_000019.9:g.(11216277_11217240)_(11224439_11226769)del http://identifiers.org/clinvar/251472 ^@ NC_000019.9:g.(11217364_11218067)_(11218191_11221327)del http://identifiers.org/clinvar/251473 ^@ NC_000019.9:g.(11217364_11218067)_(11222316_11223953)del http://identifiers.org/clinvar/251474 ^@ NC_000019.9:g.(11217364_11218067)_(11244506_?)del http://identifiers.org/clinvar/251555 ^@ NC_000019.9:g.(11218191_11221327)_(11221448_11222189)del http://identifiers.org/clinvar/251556 ^@ NC_000019.9:g.(11218191_11221327)_(11222316_11223953)dup http://identifiers.org/clinvar/251557 ^@ NC_000019.9:g.(11218191_11221327)_(11224439_11226769)del http://identifiers.org/clinvar/251558 ^@ NC_000019.9:g.(11218191_11221327)_(11224439_11226769)dup http://identifiers.org/clinvar/251559 ^@ NC_000019.9:g.(11218191_11221327)_(11227675_11230767)del http://identifiers.org/clinvar/251560 ^@ NC_000019.9:g.(11218191_11221327)_(11227675_11230767)dup http://identifiers.org/clinvar/251561 ^@ NC_000019.9:g.(11218191_11221327)_(11231199_11233849)del http://identifiers.org/clinvar/251562 ^@ NC_000019.9:g.(11218191_11221327)_(11234021_11238683)del http://identifiers.org/clinvar/251563 ^@ NC_000019.9:g.(11218191_11221327)_(11244506_?)dup http://identifiers.org/clinvar/251633 ^@ NC_000019.9:g.(11221448_11222189)_(11222316_11223953)del http://identifiers.org/clinvar/251634 ^@ NC_000019.9:g.(11221448_11222189)_(11224439_11226769)dup http://identifiers.org/clinvar/251635 ^@ NC_000019.9:g.(11221448_11222189)_(11227675_11230767)del http://identifiers.org/clinvar/251714 ^@ NC_000019.9:g.(11222316_11223953)_(11224126_11224210)del http://identifiers.org/clinvar/251715 ^@ NC_000019.9:g.(11222316_11223953)_(11224126_11224210)dup http://identifiers.org/clinvar/251716 ^@ NC_000019.9:g.(11222316_11223953)_(11224439_11226769)del http://identifiers.org/clinvar/251717 ^@ NC_000019.9:g.(11222316_11223953)_(11224439_11226769)dup http://identifiers.org/clinvar/251718 ^@ NC_000019.9:g.(11222316_11223953)_(11227675_11230767)del http://identifiers.org/clinvar/251719 ^@ NC_000019.9:g.(11222316_11223953)_(11227675_11230767)dup http://identifiers.org/clinvar/251720 ^@ NC_000019.9:g.(11222316_11223953)_(11231199_11233849)del http://identifiers.org/clinvar/251721 ^@ NC_000019.9:g.(11222316_11223953)_(11231199_11233849)dup http://identifiers.org/clinvar/251722 ^@ NC_000019.9:g.(11222316_11223953)_(11244506_?)del http://identifiers.org/clinvar/251913 ^@ NC_000019.9:g.(11224439_11226769)_(11226889_11227534)del http://identifiers.org/clinvar/251914 ^@ NC_000019.9:g.(11224439_11226769)_(11227675_11230767)del http://identifiers.org/clinvar/251915 ^@ NC_000019.9:g.(11224439_11226769)_(11227675_11230767)dup http://identifiers.org/clinvar/251916 ^@ NC_000019.9:g.(11224439_11226769)_(11231199_11233849)del http://identifiers.org/clinvar/251917 ^@ NC_000019.9:g.(11224439_11226769)_(11231199_11233849)dup http://identifiers.org/clinvar/251918 ^@ NC_000019.9:g.(11224439_11226769)_(11234021_11238683)del http://identifiers.org/clinvar/251919 ^@ NC_000019.9:g.(11224439_11226769)_(11238762_11240188)del http://identifiers.org/clinvar/251920 ^@ NC_000019.9:g.(11224439_11226769)_(11240347_11241956)del http://identifiers.org/clinvar/251921 ^@ NC_000019.9:g.(11224439_11226769)_(11244506_?)del http://identifiers.org/clinvar/251988 ^@ NC_000019.9:g.(11226889_11227534)_(11227675_11230767)del http://identifiers.org/clinvar/251989 ^@ NC_000019.9:g.(11226889_11227534)_(11227675_11230767)dup http://identifiers.org/clinvar/251990 ^@ NC_000019.9:g.(11226889_11227534)_(11238762_11240188)del http://identifiers.org/clinvar/251991 ^@ NC_000019.9:g.(11226889_11227534)_(11244506_?)del http://identifiers.org/clinvar/252074 ^@ NC_000019.9:g.(11227675_11230767)_(11231199_11233849)del http://identifiers.org/clinvar/252075 ^@ NC_000019.9:g.(11227675_11230767)_(11231199_11233849)dup http://identifiers.org/clinvar/252076 ^@ NC_000019.9:g.(11227675_11230767)_(11234021_11238683)del http://identifiers.org/clinvar/252077 ^@ NC_000019.9:g.(11227675_11230767)_(11234021_11238683)dup http://identifiers.org/clinvar/252078 ^@ NC_000019.9:g.(11227675_11230767)_(11244506_?)del http://identifiers.org/clinvar/252154 ^@ NC_000019.9:g.(11230910_11231045)_(11234021_11238683)del http://identifiers.org/clinvar/252239 ^@ NC_000019.9:g.(11231199_11233849)_(11234021_11238683)del http://identifiers.org/clinvar/252240 ^@ NC_000019.9:g.(11231199_11233849)_(11244506_?)del http://identifiers.org/clinvar/252279 ^@ NC_000019.9:g.(11234021_11238683)_(11240347_11241956)del http://identifiers.org/clinvar/252280 ^@ NC_000019.9:g.(11234021_11238683)_(11238762_11240188)del http://identifiers.org/clinvar/252281 ^@ NC_000019.9:g.(11234021_11238683)_(11240347_11241956)dup http://identifiers.org/clinvar/252282 ^@ NC_000019.9:g.(11234021_11238683)_(11242212_?)del http://identifiers.org/clinvar/252283 ^@ NC_000019.9:g.(11234021_11238683)_(11242799_?)del http://identifiers.org/clinvar/252284 ^@ NC_000019.9:g.(11234021_11238683)_(11244506_?)del http://identifiers.org/clinvar/252314 ^@ NC_000019.9:g.(11238762_11240188)_(11240347_11241956)del http://identifiers.org/clinvar/252315 ^@ NC_000019.9:g.(11238762_11240188)_(11244506_?)del http://identifiers.org/clinvar/252362 ^@ NM_004608.3(TBX6):c.1179_1180delAG (p.Gly395Leufs) http://identifiers.org/clinvar/252378 ^@ NM_194248.2(OTOF):c.1111G>C (p.Gly371Arg) http://identifiers.org/clinvar/252427 ^@ NM_000059.3(BRCA2):c.-41G>A http://identifiers.org/clinvar/252407 ^@ NM_000059.3(BRCA2):c.81_83delAAGinsTAAGACT (p.Ser28Lysfs) http://identifiers.org/clinvar/252412 ^@ NM_000059.3(BRCA2):c.606C>T (p.Pro202=) http://identifiers.org/clinvar/252421 ^@ NM_000059.3(BRCA2):c.773A>G (p.Gln258Arg) http://identifiers.org/clinvar/252404 ^@ NM_000059.3(BRCA2):c.889G>T (p.Glu297Ter) http://identifiers.org/clinvar/252405 ^@ NM_000059.3(BRCA2):c.1002T>G (p.His334Gln) http://identifiers.org/clinvar/252411 ^@ NM_000059.3(BRCA2):c.1387A>G (p.Thr463Ala) http://identifiers.org/clinvar/252415 ^@ NM_000059.3(BRCA2):c.1574C>G (p.Thr525Ser) http://identifiers.org/clinvar/252426 ^@ NM_000059.3(BRCA2):c.3422delC (p.Thr1141Asnfs) http://identifiers.org/clinvar/252413 ^@ NM_000059.3(BRCA2):c.3831T>G (p.Asn1277Lys) http://identifiers.org/clinvar/252424 ^@ NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) http://identifiers.org/clinvar/252410 ^@ NM_000059.3(BRCA2):c.4425G>A (p.Met1475Ile) http://identifiers.org/clinvar/252422 ^@ NM_000059.3(BRCA2):c.4933_4935delAAA (p.Lys1645del) http://identifiers.org/clinvar/252409 ^@ NM_000059.3(BRCA2):c.5191C>T (p.His1731Tyr) http://identifiers.org/clinvar/252417 ^@ NM_000059.3(BRCA2):c.6792G>C (p.Leu2264Phe) http://identifiers.org/clinvar/252425 ^@ NM_000059.3(BRCA2):c.6815_6816delGA (p.Arg2272Lysfs) http://identifiers.org/clinvar/252419 ^@ NM_000059.3(BRCA2):c.6980delT (p.Leu2327Terfs) http://identifiers.org/clinvar/252408 ^@ NM_000059.3(BRCA2):c.7185C>T (p.His2395=) http://identifiers.org/clinvar/252423 ^@ NM_000059.3(BRCA2):c.7822C>G (p.Pro2608Ala) http://identifiers.org/clinvar/252416 ^@ NM_000059.3(BRCA2):c.8702G>T (p.Gly2901Val) http://identifiers.org/clinvar/252406 ^@ NM_000059.3(BRCA2):c.9118-5T>C http://identifiers.org/clinvar/252420 ^@ NM_000059.3(BRCA2):c.9617_9619dupAAA (p.Gln3206_Ile3207insLys) http://identifiers.org/clinvar/252418 ^@ NM_000059.3(BRCA2):c.9776T>C (p.Ile3259Thr) http://identifiers.org/clinvar/252414 ^@ NM_000059.3(BRCA2):c.9920A>C (p.Lys3307Thr) http://identifiers.org/clinvar/252389 ^@ NM_007294.3(BRCA1):c.5524_5531delGTAGCACT (p.Val1842Leufs) http://identifiers.org/clinvar/252402 ^@ NM_007294.3(BRCA1):c.5329A>T (p.Thr1777Ser) http://identifiers.org/clinvar/252381 ^@ NM_007294.3(BRCA1):c.5075-2A>G http://identifiers.org/clinvar/252385 ^@ NM_007294.3(BRCA1):c.5050_5051delAC (p.Thr1684Tyrfs) http://identifiers.org/clinvar/252399 ^@ NM_007294.3(BRCA1):c.4976delC (p.Pro1659Glnfs) http://identifiers.org/clinvar/252396 ^@ NM_007294.3(BRCA1):c.4675+2T>G http://identifiers.org/clinvar/252395 ^@ NM_007294.3(BRCA1):c.4485-6_4485-2dup http://identifiers.org/clinvar/252403 ^@ NM_007294.3(BRCA1):c.4484+6A>C http://identifiers.org/clinvar/252387 ^@ NM_007294.3(BRCA1):c.4458T>G (p.Ser1486Arg) http://identifiers.org/clinvar/252380 ^@ NM_007294.3(BRCA1):c.4389_4392dupCCCT (p.Ile1465Profs) http://identifiers.org/clinvar/252398 ^@ NM_007294.3(BRCA1):c.4273C>G (p.Pro1425Ala) http://identifiers.org/clinvar/252394 ^@ NM_007294.3(BRCA1):c.3292C>T (p.Leu1098Phe) http://identifiers.org/clinvar/252379 ^@ NM_007294.3(BRCA1):c.2418delA (p.Ala807Hisfs) http://identifiers.org/clinvar/252382 ^@ NM_007294.3(BRCA1):c.2331_2332dupTG (p.Gly778Valfs) http://identifiers.org/clinvar/252401 ^@ NM_007294.3(BRCA1):c.1842G>T (p.Lys614Asn) http://identifiers.org/clinvar/252384 ^@ NM_007294.3(BRCA1):c.1075C>T (p.Pro359Ser) http://identifiers.org/clinvar/252383 ^@ NM_007294.3(BRCA1):c.812T>G (p.Val271Gly) http://identifiers.org/clinvar/252390 ^@ NM_007294.3(BRCA1):c.742A>C (p.Thr248Pro) http://identifiers.org/clinvar/252397 ^@ NM_007294.3(BRCA1):c.715delC (p.His239Ilefs) http://identifiers.org/clinvar/252400 ^@ NM_007294.3(BRCA1):c.346delG (p.Glu116Asnfs) http://identifiers.org/clinvar/252388 ^@ NM_007294.3(BRCA1):c.302-7T>A http://identifiers.org/clinvar/252393 ^@ NM_007294.3(BRCA1):c.172C>T (p.Pro58Ser) http://identifiers.org/clinvar/252391 ^@ NM_007294.3(BRCA1):c.169G>C (p.Gly57Arg) http://identifiers.org/clinvar/252392 ^@ NM_007294.3(BRCA1):c.118G>A (p.Asp40Asn) http://identifiers.org/clinvar/252386 ^@ NM_007294.3(BRCA1):c.103G>T (p.Val35Phe) http://identifiers.org/clinvar/252437 ^@ NM_000059.3(BRCA2):c.378dupA (p.Ala127Serfs) http://identifiers.org/clinvar/252438 ^@ NM_000059.3(BRCA2):c.1057delT (p.Ser353Hisfs) http://identifiers.org/clinvar/252439 ^@ NM_000059.3(BRCA2):c.1114_1117delAATCinsCATT (p.Asn372_Gln373delinsHisTer) http://identifiers.org/clinvar/252440 ^@ NM_000059.3(BRCA2):c.1306_1307delAA (p.Lys436Glufs) http://identifiers.org/clinvar/252441 ^@ NM_000059.3(BRCA2):c.1588A>T (p.Lys530Ter) http://identifiers.org/clinvar/252442 ^@ NM_000059.3(BRCA2):c.1733delG (p.Gly578Valfs) http://identifiers.org/clinvar/252443 ^@ NM_000059.3(BRCA2):c.1821dupA (p.Asp608Argfs) http://identifiers.org/clinvar/252444 ^@ NM_000059.3(BRCA2):c.4769delA (p.Lys1590Serfs) http://identifiers.org/clinvar/252445 ^@ NM_000059.3(BRCA2):c.5379_5380insTT (p.Val1794Leufs) http://identifiers.org/clinvar/252446 ^@ NM_000059.3(BRCA2):c.6466_6469delTCTC (p.Ser2156Asnfs) http://identifiers.org/clinvar/252447 ^@ NM_000059.3(BRCA2):c.7508_7521delTCTTTCCACAGCCAinsG (p.Val2503Glyfs) http://identifiers.org/clinvar/252448 ^@ NM_000059.3(BRCA2):c.7914delT (p.Pro2639Leufs) http://identifiers.org/clinvar/252449 ^@ NM_000059.3(BRCA2):c.7919_7928delAGGAATTTGC (p.Lys2640Ilefs) http://identifiers.org/clinvar/252434 ^@ NM_007294.3(BRCA1):c.4698_4704dupTGGAATC (p.Ser1569Trpfs) http://identifiers.org/clinvar/252433 ^@ NM_007294.3(BRCA1):c.4372_4373delCA (p.Gln1458Glufs) http://identifiers.org/clinvar/252432 ^@ NM_007294.3(BRCA1):c.3132delT (p.Asn1045Metfs) http://identifiers.org/clinvar/252431 ^@ NM_007294.3(BRCA1):c.2983A>T (p.Lys995Ter) http://identifiers.org/clinvar/252430 ^@ NM_007294.3(BRCA1):c.1622_1626delAGAAT (p.Gln541Argfs) http://identifiers.org/clinvar/252436 ^@ NM_007294.3(BRCA1):c.1224delA (p.Val409Terfs) http://identifiers.org/clinvar/252429 ^@ NM_007294.3(BRCA1):c.1142_1143delAA (p.Lys381Serfs) http://identifiers.org/clinvar/252435 ^@ NM_007294.3(BRCA1):c.679G>T (p.Glu227Ter) http://identifiers.org/clinvar/252428 ^@ NM_007294.3(BRCA1):c.65T>A (p.Leu22Ter) http://identifiers.org/clinvar/252451 ^@ NM_198239.1(WISP3):c.643+1G>A http://identifiers.org/clinvar/252808 ^@ NM_198576.3(AGRN):c.4639G>A (p.Glu1547Lys) http://identifiers.org/clinvar/252607 ^@ NM_002557.3(OVGP1):c.1599_1600insACTGGACAGAAGACCCTGACC (p.Thr533_Pro534insThrGlyGlnLysThrLeuThr) http://identifiers.org/clinvar/252640 ^@ NM_004958.3(MTOR):c.2885A>G (p.Gln962Arg) http://identifiers.org/clinvar/252739 ^@ NM_024494.2(WNT2B):c.313C>T (p.Arg105Ter) http://identifiers.org/clinvar/252668 ^@ NM_006594.4(AP4B1):c.530_531insA (p.Asn178Glufs) http://identifiers.org/clinvar/252667 ^@ NM_006594.4(AP4B1):c.114-2A>C http://identifiers.org/clinvar/252571 ^@ NM_001243.4(TNFRSF8):c.1043C>T (p.Thr348Ile) http://identifiers.org/clinvar/252690 ^@ NM_015100.3(POGZ):c.3259C>T (p.Arg1087Ter) http://identifiers.org/clinvar/252645 ^@ NM_005060.3(RORC):c.1477G>A (p.Val493Met) http://identifiers.org/clinvar/252687 ^@ NM_015001.2(SPEN):c.9730_9731insCCCCCCCCC (p.Pro3245_Thr3246insProProPro) http://identifiers.org/clinvar/252576 ^@ NM_001267613.1(GPR161):c.53dupC (p.Gly19Trpfs) http://identifiers.org/clinvar/252767 ^@ NM_033343.3(LHX4):c.365G>A (p.Arg122Gln) http://identifiers.org/clinvar/252587 ^@ NM_001531.2(MR1):c.380G>A (p.Ser127Asn) http://identifiers.org/clinvar/252566 ^@ NM_001200050.1(NPL):c.541G>A (p.Val181Met) http://identifiers.org/clinvar/252460 ^@ NM_000069.2(CACNA1S):c.1193T>A (p.Leu398Gln) http://identifiers.org/clinvar/252729 ^@ NM_020443.4(NAV1):c.2841delG (p.Leu948Serfs) http://identifiers.org/clinvar/252503 ^@ NM_001006658.2(CR2):c.3033G>C (p.Gln1011His) http://identifiers.org/clinvar/252717 ^@ NM_018060.3(IARS2):c.951G>A (p.Lys317=) http://identifiers.org/clinvar/252619 ^@ NM_003268.5(TLR5):c.2537A>G (p.Asp846Gly) http://identifiers.org/clinvar/252618 ^@ NM_003268.5(TLR5):c.1930A>T (p.Ile644Phe) http://identifiers.org/clinvar/252617 ^@ NM_003268.5(TLR5):c.1459C>A (p.Leu487Ile) http://identifiers.org/clinvar/252583 ^@ NM_001271223.2(OBSCN):c.2039C>T (p.Ala680Val) http://identifiers.org/clinvar/252582 ^@ NM_001271223.2(OBSCN):c.11282G>A (p.Arg3761His) http://identifiers.org/clinvar/252508 ^@ NM_001035.2(RYR2):c.3265C>T (p.Arg1089Cys) http://identifiers.org/clinvar/252509 ^@ NM_001035.2(RYR2):c.6232C>T (p.Pro2078Ser) http://identifiers.org/clinvar/252507 ^@ NM_001035.2(RYR2):c.10844G>A (p.Arg3615Gln) http://identifiers.org/clinvar/252726 ^@ NM_020066.4(FMN2):c.1481C>G (p.Pro494Arg) http://identifiers.org/clinvar/252663 ^@ NM_006314.2(CNKSR1):c.851delC (p.Pro284Hisfs) http://identifiers.org/clinvar/252789 ^@ NM_153212.2(GJB4):c.507C>G (p.Cys169Trp) http://identifiers.org/clinvar/252498 ^@ NM_000831.3(GRIK3):c.1268G>A (p.Arg423Gln) http://identifiers.org/clinvar/252743 ^@ NM_024700.3(SNIP1):c.1158T>G (p.Asp386Glu) http://identifiers.org/clinvar/252550 ^@ NM_001166292.1(PTCH2):c.1864C>A (p.His622Asn) http://identifiers.org/clinvar/252797 ^@ NM_174936.3(PCSK9):c.1484G>A (p.Arg495Gln) http://identifiers.org/clinvar/252555 ^@ NM_001172818.1(PGM1):c.1161C>A (p.Ser387Arg) http://identifiers.org/clinvar/252694 ^@ NM_015215.3(CAMTA1):c.1994G>A (p.Arg665Gln) http://identifiers.org/clinvar/252710 ^@ NM_016831.2(PER3):c.470G>A (p.Arg157His) http://identifiers.org/clinvar/252590 ^@ NM_001561.5(TNFRSF9):c.166G>A (p.Ala56Thr) http://identifiers.org/clinvar/252642 ^@ NM_005026.3(PIK3CD):c.1690-6C>T http://identifiers.org/clinvar/252664 ^@ NM_006343.2(MERTK):c.584-5C>T http://identifiers.org/clinvar/252635 ^@ NM_004807.2(HS6ST1):c.1121G>A (p.Ser374Asn) http://identifiers.org/clinvar/252636 ^@ NM_004807.2(HS6ST1):c.233C>T (p.Ser78Leu) http://identifiers.org/clinvar/252716 ^@ NM_017951.4(SMPD4):c.1592C>T (p.Pro531Leu) http://identifiers.org/clinvar/252491 ^@ NM_000547.5(TPO):c.1472G>A (p.Arg491His) http://identifiers.org/clinvar/252580 ^@ NM_001271208.1(NEB):c.17497G>A (p.Val5833Ile) http://identifiers.org/clinvar/252579 ^@ NM_001271208.1(NEB):c.11032C>G (p.Pro3678Ala) http://identifiers.org/clinvar/252581 ^@ NM_001271208.1(NEB):c.8801G>A (p.Arg2934His) http://identifiers.org/clinvar/252630 ^@ NM_004490.2(GRB14):c.1474C>T (p.Pro492Ser) http://identifiers.org/clinvar/252746 ^@ NM_025000.3(DCAF17):c.509A>G (p.Gln170Arg) http://identifiers.org/clinvar/252517 ^@ NM_001077269.1(WIPF1):c.1246C>T (p.Pro416Ser) http://identifiers.org/clinvar/252518 ^@ NM_001077269.1(WIPF1):c.208G>A (p.Gly70Ser) http://identifiers.org/clinvar/252674 ^@ NM_007315.3(STAT1):c.1222-5T>C http://identifiers.org/clinvar/252575 ^@ NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg) http://identifiers.org/clinvar/252604 ^@ NM_002374.3(MAP2):c.2254G>T (p.Ala752Ser) http://identifiers.org/clinvar/252479 ^@ NM_000384.2(APOB):c.12766G>A (p.Glu4256Lys) http://identifiers.org/clinvar/252485 ^@ NM_000384.2(APOB):c.6895G>C (p.Asp2299His) http://identifiers.org/clinvar/252483 ^@ NM_000384.2(APOB):c.4027C>T (p.Pro1343Ser) http://identifiers.org/clinvar/252482 ^@ NM_000384.2(APOB):c.3670C>T (p.Arg1224Trp) http://identifiers.org/clinvar/252481 ^@ NM_000384.2(APOB):c.3362A>G (p.Lys1121Arg) http://identifiers.org/clinvar/252480 ^@ NM_000384.2(APOB):c.1310G>A (p.Arg437His) http://identifiers.org/clinvar/252484 ^@ NM_000384.2(APOB):c.574G>A (p.Val192Ile) http://identifiers.org/clinvar/252588 ^@ NM_001557.3(CXCR2):c.235G>A (p.Gly79Ser) http://identifiers.org/clinvar/252800 ^@ NM_181458.3(PAX3):c.968A>G (p.Asp323Gly) http://identifiers.org/clinvar/252464 ^@ NM_000092.4(COL4A4):c.2347G>A (p.Gly783Arg) http://identifiers.org/clinvar/252572 ^@ NM_001252120.1(PASK):c.3533+1G>A http://identifiers.org/clinvar/252701 ^@ NM_015662.2(IFT172):c.3401G>T (p.Arg1134Leu) http://identifiers.org/clinvar/252657 ^@ NM_006036.4(PREPL):c.1013A>G (p.Asp338Gly) http://identifiers.org/clinvar/252472 ^@ NM_000251.2(MSH2):c.212-3A>T http://identifiers.org/clinvar/252474 ^@ NM_000251.2(MSH2):c.942+3_942+7delAAAAA http://identifiers.org/clinvar/252468 ^@ NM_000179.2(MSH6):c.3992G>T (p.Arg1331Leu) http://identifiers.org/clinvar/252764 ^@ NM_033109.4(PNPT1):c.1068C>G (p.Tyr356Ter) http://identifiers.org/clinvar/252715 ^@ NM_017880.2(C2orf42):c.527C>T (p.Pro176Leu) http://identifiers.org/clinvar/252691 ^@ NM_015120.4(ALMS1):c.5186A>G (p.Asp1729Gly) http://identifiers.org/clinvar/252775 ^@ NM_053025.3(MYLK):c.5477C>T (p.Ala1826Val) http://identifiers.org/clinvar/252774 ^@ NM_053025.3(MYLK):c.5412G>T (p.Lys1804Asn) http://identifiers.org/clinvar/252773 ^@ NM_053025.3(MYLK):c.3910C>A (p.His1304Asn) http://identifiers.org/clinvar/252772 ^@ NM_053025.3(MYLK):c.3749G>A (p.Arg1250His) http://identifiers.org/clinvar/252771 ^@ NM_053025.3(MYLK):c.2626C>A (p.Arg876Ser) http://identifiers.org/clinvar/252770 ^@ NM_052985.3(IFT122):c.2447A>C (p.Lys816Thr) http://identifiers.org/clinvar/252683 ^@ NM_014461.3(CNTN6):c.2518-1G>A http://identifiers.org/clinvar/252666 ^@ NM_006506.3(RASA2):c.817A>G (p.Lys273Glu) http://identifiers.org/clinvar/252665 ^@ NM_006506.3(RASA2):c.1603A>G (p.Ile535Val) http://identifiers.org/clinvar/252558 ^@ NM_001184.3(ATR):c.2242A>G (p.Thr748Ala) http://identifiers.org/clinvar/252794 ^@ NM_173653.3(SLC9A9):c.1486G>A (p.Asp496Asn) http://identifiers.org/clinvar/252742 ^@ NM_024665.5(TBL1XR1):c.86G>A (p.Gly29Asp) http://identifiers.org/clinvar/252782 ^@ NM_138461.3(TM4SF19):c.88G>C (p.Ala30Pro) http://identifiers.org/clinvar/252506 ^@ NM_001024847.2(TGFBR2):c.1042C>G (p.Leu348Val) http://identifiers.org/clinvar/252531 ^@ NM_001099404.1(SCN5A):c.3425C>T (p.Ala1142Val) http://identifiers.org/clinvar/252806 ^@ NM_194293.2(XIRP1):c.3763C>T (p.Pro1255Ser) http://identifiers.org/clinvar/252699 ^@ NM_015340.3(LARS2):c.2263C>T (p.Gln755Ter) http://identifiers.org/clinvar/252603 ^@ NM_002292.3(LAMB2):c.3088G>A (p.Ala1030Thr) http://identifiers.org/clinvar/252487 ^@ NM_000481.3(AMT):c.359C>T (p.Thr120Ile) http://identifiers.org/clinvar/252556 ^@ NM_001174051.2(CACNA2D2):c.160C>T (p.Leu54Phe) http://identifiers.org/clinvar/252493 ^@ NM_000666.2(ACY1):c.1099C>T (p.Arg367Cys) http://identifiers.org/clinvar/252787 ^@ NM_145262.3(GLYCTK):c.1460A>G (p.Asn487Ser) http://identifiers.org/clinvar/252661 ^@ NM_006254.3(PRKCD):c.1448G>A (p.Arg483Gln) http://identifiers.org/clinvar/252494 ^@ NM_000720.3(CACNA1D):c.1378G>A (p.Gly460Ser) http://identifiers.org/clinvar/252548 ^@ NM_001164317.1(FLNB):c.808A>G (p.Met270Val) http://identifiers.org/clinvar/252547 ^@ NM_001164317.1(FLNB):c.4483+2T>C http://identifiers.org/clinvar/252525 ^@ NM_001080517.2(SETD5):c.521A>G (p.Lys174Arg) http://identifiers.org/clinvar/252524 ^@ NM_001080517.2(SETD5):c.2462G>A (p.Cys821Tyr) http://identifiers.org/clinvar/252520 ^@ NM_001077525.2(MTMR14):c.1151G>A (p.Ser384Asn) http://identifiers.org/clinvar/252469 ^@ NM_000204.4(CFI):c.1534+5G>T http://identifiers.org/clinvar/252470 ^@ NM_000204.4(CFI):c.80A>C (p.Asp27Ala) http://identifiers.org/clinvar/252740 ^@ NM_024582.4(FAT4):c.10847C>T (p.Thr3616Met) http://identifiers.org/clinvar/252501 ^@ NM_000901.4(NR3C2):c.1409C>A (p.Ser470Ter) http://identifiers.org/clinvar/252544 ^@ NM_001145847.1(PROM1):c.887C>T (p.Pro296Leu) http://identifiers.org/clinvar/252795 ^@ NM_173660.4(DOK7):c.761C>T (p.Pro254Leu) http://identifiers.org/clinvar/252748 ^@ NM_025132.3(WDR19):c.3918-6A>C http://identifiers.org/clinvar/252624 ^@ NM_004181.4(UCHL1):c.370A>C (p.Met124Leu) http://identifiers.org/clinvar/252656 ^@ NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) http://identifiers.org/clinvar/252682 ^@ NM_014208.3(DSPP):c.3618_3619insAGCAGTGAC (p.Ser1231_Asn1232insSerAspSer) http://identifiers.org/clinvar/252532 ^@ NM_001127510.2(APC):c.7260_7262delTTC (p.Ser2421del) http://identifiers.org/clinvar/252564 ^@ NM_001199291.2(HSD17B4):c.1492C>T (p.Arg498Trp) http://identifiers.org/clinvar/252757 ^@ NM_032446.2(MEGF10):c.1130+3G>A http://identifiers.org/clinvar/252758 ^@ NM_032446.2(MEGF10):c.1609A>G (p.Asn537Asp) http://identifiers.org/clinvar/252614 ^@ NM_003059.2(SLC22A4):c.1291A>G (p.Met431Val) http://identifiers.org/clinvar/252653 ^@ NM_005859.4(PURA):c.509_515delTCCGCCA (p.Ile170Argfs) http://identifiers.org/clinvar/252523 ^@ NM_001080516.1(GRXCR2):c.564+5G>A http://identifiers.org/clinvar/252801 ^@ NM_181674.2(PPP2R2B):c.115delC (p.Leu39Serfs) http://identifiers.org/clinvar/252609 ^@ NM_002609.3(PDGFRB):c.2938A>C (p.Ser980Arg) http://identifiers.org/clinvar/252608 ^@ NM_002609.3(PDGFRB):c.2137G>A (p.Ala713Thr) http://identifiers.org/clinvar/252637 ^@ NM_004821.2(HAND1):c.247G>T (p.Gly83Trp) http://identifiers.org/clinvar/252809 ^@ NM_198903.2(GABRG2):c.107+6A>G http://identifiers.org/clinvar/252714 ^@ NM_017785.4(SPDL1):c.752A>G (p.Asn251Ser) http://identifiers.org/clinvar/252675 ^@ NM_012188.4(FOXI1):c.346G>A (p.Glu116Lys) http://identifiers.org/clinvar/252792 ^@ NM_172349.2(NSD1):c.5C>T (p.Pro2Leu) http://identifiers.org/clinvar/252613 ^@ NM_003052.4(SLC34A1):c.284G>A (p.Arg95His) http://identifiers.org/clinvar/252500 ^@ NM_000843.3(GRM6):c.2398G>A (p.Val800Met) http://identifiers.org/clinvar/252631 ^@ NM_004553.4(NDUFS6):c.133-4C>T http://identifiers.org/clinvar/252798 ^@ NM_178140.3(PDZD2):c.7957G>A (p.Val2653Met) http://identifiers.org/clinvar/252655 ^@ NM_005921.1(MAP3K1):c.710A>G (p.Gln237Arg) http://identifiers.org/clinvar/252461 ^@ NM_000082.3(ERCC8):c.1129A>G (p.Thr377Ala) http://identifiers.org/clinvar/252722 ^@ NM_018429.2(BDP1):c.4112_4114delGAA (p.Arg1371del) http://identifiers.org/clinvar/252669 ^@ NM_006633.3(IQGAP2):c.322C>T (p.Arg108Ter) http://identifiers.org/clinvar/252755 ^@ NM_032119.3(ADGRV1):c.1953A>T (p.Glu651Asp) http://identifiers.org/clinvar/252549 ^@ NM_001166247.1(GRIK2):c.150G>A (p.Met50Ile) http://identifiers.org/clinvar/252686 ^@ NM_014797.2(ZBTB24):c.341A>G (p.Gln114Arg) http://identifiers.org/clinvar/252685 ^@ NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) http://identifiers.org/clinvar/252611 ^@ NM_002912.4(REV3L):c.3979A>G (p.Ile1327Val) http://identifiers.org/clinvar/252638 ^@ NM_004830.3(MED23):c.2221-3T>C http://identifiers.org/clinvar/252706 ^@ NM_016495.5(TBC1D7):c.413C>A (p.Ala138Asp) http://identifiers.org/clinvar/252543 ^@ NM_001145287.2(OPRM1):c.140C>G (p.Ser47Cys) http://identifiers.org/clinvar/252720 ^@ NM_018341.2(ERMARD):c.1246G>A (p.Val416Ile) http://identifiers.org/clinvar/252709 ^@ NM_016614.2(TDP2):c.860T>G (p.Leu287Trp) http://identifiers.org/clinvar/252551 ^@ NM_001167734.1(VARS2):c.2569C>G (p.Pro857Ala) http://identifiers.org/clinvar/252598 ^@ NM_002125.3(HLA-DRB5):c.764-2A>G http://identifiers.org/clinvar/252599 ^@ NM_002125.3(HLA-DRB5):c.764-3C>T http://identifiers.org/clinvar/252538 ^@ NM_001142800.1(EYS):c.8422G>A (p.Ala2808Thr) http://identifiers.org/clinvar/252565 ^@ NM_001199917.1(PGM3):c.1696C>A (p.Pro566Thr) http://identifiers.org/clinvar/252688 ^@ NM_015021.1(ZNF292):c.6038_6039delAG (p.Glu2013Glyfs) http://identifiers.org/clinvar/252644 ^@ NM_005045.3(RELN):c.8657A>G (p.His2886Arg) http://identifiers.org/clinvar/252602 ^@ NM_002291.2(LAMB1):c.476C>G (p.Thr159Ser) http://identifiers.org/clinvar/252768 ^@ NM_033427.2(CTTNBP2):c.3113A>G (p.Asn1038Ser) http://identifiers.org/clinvar/252652 ^@ NM_005763.3(AASS):c.2762A>G (p.Gln921Arg) http://identifiers.org/clinvar/252651 ^@ NM_005763.3(AASS):c.2373T>A (p.Asn791Lys) http://identifiers.org/clinvar/252535 ^@ NM_001130966.2(TBXAS1):c.93-1G>C http://identifiers.org/clinvar/252627 ^@ NM_004333.4(BRAF):c.1950G>C (p.Met650Ile) http://identifiers.org/clinvar/252610 ^@ NM_002769.4(PRSS1):c.637G>A (p.Val213Ile) http://identifiers.org/clinvar/252463 ^@ NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) http://identifiers.org/clinvar/252462 ^@ NM_000083.2(CLCN1):c.2284+5C>T http://identifiers.org/clinvar/252778 ^@ NM_130797.3(DPP6):c.193G>T (p.Gly65Cys) http://identifiers.org/clinvar/252779 ^@ NM_130797.3(DPP6):c.194G>T (p.Gly65Val) http://identifiers.org/clinvar/252780 ^@ NM_130797.3(DPP6):c.227A>T (p.Asp76Val) http://identifiers.org/clinvar/252793 ^@ NM_173537.3(GTF2IRD2):c.307G>A (p.Glu103Lys) http://identifiers.org/clinvar/252760 ^@ NM_033026.5(PCLO):c.2066C>T (p.Ala689Val) http://identifiers.org/clinvar/252677 ^@ NM_012431.2(SEMA3E):c.2155T>G (p.Tyr719Asp) http://identifiers.org/clinvar/252486 ^@ NM_000466.2(PEX1):c.3810T>A (p.Ser1270Arg) http://identifiers.org/clinvar/252586 ^@ NM_001282678.1(PEX1):c.2795A>G (p.Asn932Ser) http://identifiers.org/clinvar/252753 ^@ NM_031439.3(SOX7):c.792G>C (p.Gln264His) http://identifiers.org/clinvar/252681 ^@ NM_014112.4(TRPS1):c.3514G>C (p.Asp1172His) http://identifiers.org/clinvar/252802 ^@ NM_182643.2(DLC1):c.2213C>T (p.Thr738Met) http://identifiers.org/clinvar/252754 ^@ NM_031466.7(TRAPPC9):c.3088G>A (p.Ala1030Thr) http://identifiers.org/clinvar/252546 ^@ NM_001160170.3(NAT1):c.190C>T (p.Arg64Trp) http://identifiers.org/clinvar/252662 ^@ NM_006269.1(RP1):c.5673G>T (p.Leu1891Phe) http://identifiers.org/clinvar/252713 ^@ NM_017780.3(CHD7):c.3964delC (p.Leu1322Trpfs) http://identifiers.org/clinvar/252763 ^@ NM_033105.5(DNAJC5B):c.427G>T (p.Glu143Ter) http://identifiers.org/clinvar/252563 ^@ NM_001198656.1(AKAP2):c.64_81del18 (p.Ser22_Glu27del) http://identifiers.org/clinvar/252600 ^@ NM_002160.3(TNC):c.1342C>G (p.Arg448Gly) http://identifiers.org/clinvar/252744 ^@ NM_024757.4(EHMT1):c.437C>T (p.Ser146Leu) http://identifiers.org/clinvar/252633 ^@ NM_004629.1(FANCG):c.1567G>C (p.Glu523Gln) http://identifiers.org/clinvar/252574 ^@ NM_001256877.1(KANK1):c.3554-5T>A http://identifiers.org/clinvar/252718 ^@ NM_018117.11(WDR11):c.1306A>G (p.Ile436Val) http://identifiers.org/clinvar/252466 ^@ NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) http://identifiers.org/clinvar/252733 ^@ NM_020987.4(ANK3):c.7736G>A (p.Arg2579Lys) http://identifiers.org/clinvar/252732 ^@ NM_020987.4(ANK3):c.2555G>A (p.Arg852His) http://identifiers.org/clinvar/252736 ^@ NM_022124.5(CDH23):c.1621G>A (p.Glu541Lys) http://identifiers.org/clinvar/252505 ^@ NM_001014797.2(KCNMA1):c.413C>T (p.Ala138Val) http://identifiers.org/clinvar/252584 ^@ NM_001271522.1(KCNMA1):c.497G>A (p.Arg166His) http://identifiers.org/clinvar/252762 ^@ NM_033100.3(CDHR1):c.1868A>G (p.Asn623Ser) http://identifiers.org/clinvar/252554 ^@ NM_001171610.1(LDB3):c.526G>A (p.Gly176Arg) http://identifiers.org/clinvar/252680 ^@ NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) http://identifiers.org/clinvar/252727 ^@ NM_020354.3(ENTPD7):c.1311delG (p.Pro438Glnfs) http://identifiers.org/clinvar/252589 ^@ NM_001558.3(IL10RA):c.781C>T (p.Arg261Trp) http://identifiers.org/clinvar/252496 ^@ NM_000732.4(CD3D):c.62C>A (p.Pro21His) http://identifiers.org/clinvar/252562 ^@ NM_001197104.1(KMT2A):c.158C>T (p.Ala53Val) http://identifiers.org/clinvar/252585 ^@ NM_001277269.1(OTOG):c.7045G>C (p.Val2349Leu) http://identifiers.org/clinvar/252670 ^@ NM_006757.3(TNNT3):c.667C>T (p.Arg223Cys) http://identifiers.org/clinvar/252737 ^@ NM_022725.3(FANCF):c.633G>T (p.Gln211His) http://identifiers.org/clinvar/252721 ^@ NM_018389.4(SLC35C1):c.1054C>T (p.Pro352Ser) http://identifiers.org/clinvar/252490 ^@ NM_000543.4(SMPD1):c.1709A>C (p.Gln570Pro) http://identifiers.org/clinvar/252623 ^@ NM_003737.3(DCHS1):c.1906G>A (p.Gly636Ser) http://identifiers.org/clinvar/252515 ^@ NM_001040716.1(PC):c.3520A>C (p.Ile1174Leu) http://identifiers.org/clinvar/252594 ^@ NM_001876.3(CPT1A):c.1589T>C (p.Ile530Thr) http://identifiers.org/clinvar/252700 ^@ NM_015531.5(C2CD3):c.983G>A (p.Arg328His) http://identifiers.org/clinvar/252761 ^@ NM_033063.1(MAP6):c.2219G>A (p.Arg740His) http://identifiers.org/clinvar/252504 ^@ NM_001007027.2(ALG8):c.369-6A>G http://identifiers.org/clinvar/252529 ^@ NM_001098816.2(TENM4):c.2523C>A (p.Ser841Arg) http://identifiers.org/clinvar/252530 ^@ NM_001098816.2(TENM4):c.272C>A (p.Pro91His) http://identifiers.org/clinvar/252728 ^@ NM_020376.3(PNPLA2):c.793C>T (p.Pro265Ser) http://identifiers.org/clinvar/252537 ^@ NM_001142699.1(DLG2):c.1541T>C (p.Leu514Pro) http://identifiers.org/clinvar/252499 ^@ NM_000842.4(GRM5):c.2574A>T (p.Arg858Ser) http://identifiers.org/clinvar/252696 ^@ NM_015335.4(MED13L):c.5444delC (p.Thr1815Serfs) http://identifiers.org/clinvar/252697 ^@ NM_015335.4(MED13L):c.650A>C (p.Asn217Thr) http://identifiers.org/clinvar/252712 ^@ NM_017612.4(ZCCHC8):c.1349T>C (p.Met450Thr) http://identifiers.org/clinvar/252660 ^@ NM_006231.3(POLE):c.3713G>A (p.Ser1238Asn) http://identifiers.org/clinvar/252659 ^@ NM_006231.3(POLE):c.1309G>A (p.Val437Met) http://identifiers.org/clinvar/252641 ^@ NM_004963.3(GUCY2C):c.2067T>G (p.Asn689Lys) http://identifiers.org/clinvar/252629 ^@ NM_004447.5(EPS8):c.1330T>C (p.Phe444Leu) http://identifiers.org/clinvar/252725 ^@ NM_019844.3(SLCO1B3):c.413G>T (p.Ser138Ile) http://identifiers.org/clinvar/252749 ^@ NM_030653.3(DDX11):c.1763-1G>C http://identifiers.org/clinvar/252750 ^@ NM_030653.3(DDX11):c.2229C>G (p.His743Gln) http://identifiers.org/clinvar/252632 ^@ NM_004572.3(PKP2):c.681C>G (p.Ser227Arg) http://identifiers.org/clinvar/252593 ^@ NM_001844.4(COL2A1):c.2574C>T (p.Gly858=) http://identifiers.org/clinvar/252541 ^@ NM_001144996.1(ITGA7):c.2290G>A (p.Val764Ile) http://identifiers.org/clinvar/252679 ^@ NM_013254.3(TBK1):c.964C>T (p.His322Tyr) http://identifiers.org/clinvar/252747 ^@ NM_025114.3(CEP290):c.943-4C>T http://identifiers.org/clinvar/252784 ^@ NM_144670.5(A2ML1):c.3108-3dupT http://identifiers.org/clinvar/252458 ^@ NM_000059.3(BRCA2):c.6888A>G (p.Ile2296Met) http://identifiers.org/clinvar/252459 ^@ NM_000059.3(BRCA2):c.9319A>G (p.Ile3107Val) http://identifiers.org/clinvar/252702 ^@ NM_015678.4(NBEA):c.3899A>C (p.Asp1300Ala) http://identifiers.org/clinvar/252689 ^@ NM_015087.4(SPG20):c.928G>A (p.Val310Ile) http://identifiers.org/clinvar/252476 ^@ NM_000321.2(RB1):c.1814+3A>G http://identifiers.org/clinvar/252766 ^@ NM_033132.3(ZIC5):c.1260_1262dupGCC (p.Pro424_Ala425insPro) http://identifiers.org/clinvar/252765 ^@ NM_033132.3(ZIC5):c.1245_1262del18 (p.Pro419_Pro424del) http://identifiers.org/clinvar/252788 ^@ NM_145725.2(TRAF3):c.449G>A (p.Arg150His) http://identifiers.org/clinvar/252552 ^@ NM_001170629.1(CHD8):c.4940C>T (p.Thr1647Ile) http://identifiers.org/clinvar/252719 ^@ NM_018168.3(C14orf105):c.547C>T (p.Gln183Ter) http://identifiers.org/clinvar/252577 ^@ NM_001270520.1(DAAM1):c.3031A>G (p.Arg1011Gly) http://identifiers.org/clinvar/252805 ^@ NM_182914.2(SYNE2):c.7163A>G (p.Glu2388Gly) http://identifiers.org/clinvar/297203 ^@ NM_024009.2(GJB3):c.*306C>T http://identifiers.org/clinvar/297218 ^@ NM_000310.3(PPT1):c.*1062G>A http://identifiers.org/clinvar/297374 ^@ NM_006516.2(SLC2A1):c.*462G>C http://identifiers.org/clinvar/297375 ^@ NM_006516.2(SLC2A1):c.*346G>A http://identifiers.org/clinvar/331687 ^@ NM_001105.4(ACVR1):c.*45G>T http://identifiers.org/clinvar/297392 ^@ NM_006516.2(SLC2A1):c.-390delA http://identifiers.org/clinvar/331693 ^@ NM_001105.4(ACVR1):c.644-3T>C http://identifiers.org/clinvar/331697 ^@ NM_001105.4(ACVR1):c.450A>G (p.Lys150=) http://identifiers.org/clinvar/331709 ^@ NM_021007.2(SCN2A):c.-150_-149delAA http://identifiers.org/clinvar/331706 ^@ NM_021007.2(SCN2A):c.-150_-149dupAA http://identifiers.org/clinvar/331716 ^@ NM_021007.2(SCN2A):c.-147_-146insAAAT http://identifiers.org/clinvar/331717 ^@ NM_021007.2(SCN2A):c.-147_-146insAAT http://identifiers.org/clinvar/330924 ^@ NM_145693.3(LPIN1):c.*404G>T http://identifiers.org/clinvar/330926 ^@ NM_145693.3(LPIN1):c.*538C>T http://identifiers.org/clinvar/330930 ^@ NM_145693.3(LPIN1):c.*676C>G http://identifiers.org/clinvar/331718 ^@ NM_021007.2(SCN2A):c.-147_-146insAATT http://identifiers.org/clinvar/331721 ^@ NM_021007.2(SCN2A):c.-147_-146insGAT http://identifiers.org/clinvar/297395 ^@ NM_006516.2(SLC2A1):c.-490G>C http://identifiers.org/clinvar/297400 ^@ NM_005373.2(MPL):c.690+11C>T http://identifiers.org/clinvar/297404 ^@ NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) http://identifiers.org/clinvar/330945 ^@ NM_145693.3(LPIN1):c.*1708G>A http://identifiers.org/clinvar/331726 ^@ NM_021007.2(SCN2A):c.-66A>G http://identifiers.org/clinvar/297222 ^@ NM_000310.3(PPT1):c.*910C>T http://identifiers.org/clinvar/331728 ^@ NM_021007.2(SCN2A):c.2046G>T (p.Lys682Asn) http://identifiers.org/clinvar/331731 ^@ NM_021007.2(SCN2A):c.3123G>A (p.Pro1041=) http://identifiers.org/clinvar/331733 ^@ NM_021007.2(SCN2A):c.3735T>C (p.Ala1245=) http://identifiers.org/clinvar/297224 ^@ NM_000310.3(PPT1):c.*812C>T http://identifiers.org/clinvar/297226 ^@ NM_000310.3(PPT1):c.*802C>T http://identifiers.org/clinvar/330956 ^@ NM_145693.3(LPIN1):c.*2284A>G http://identifiers.org/clinvar/330957 ^@ NM_145693.3(LPIN1):c.*2302G>T http://identifiers.org/clinvar/297231 ^@ NM_000310.3(PPT1):c.*583G>A http://identifiers.org/clinvar/331736 ^@ NM_021007.2(SCN2A):c.4989C>T (p.Ile1663=) http://identifiers.org/clinvar/330961 ^@ NM_005270.4(GLI2):c.31G>A (p.Glu11Lys) http://identifiers.org/clinvar/330966 ^@ NM_005270.4(GLI2):c.252C>T (p.His84=) http://identifiers.org/clinvar/330969 ^@ NM_005270.4(GLI2):c.1173G>A (p.Ala391=) http://identifiers.org/clinvar/330970 ^@ NM_005270.4(GLI2):c.1368+6C>G http://identifiers.org/clinvar/330976 ^@ NM_005270.4(GLI2):c.2113G>A (p.Asp705Asn) http://identifiers.org/clinvar/330977 ^@ NM_005270.4(GLI2):c.2250T>G (p.Thr750=) http://identifiers.org/clinvar/297405 ^@ NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) http://identifiers.org/clinvar/297407 ^@ NM_005373.2(MPL):c.1467C>T (p.Thr489=) http://identifiers.org/clinvar/330981 ^@ NM_005270.4(GLI2):c.2741G>A (p.Arg914Gln) http://identifiers.org/clinvar/330989 ^@ NM_005270.4(GLI2):c.3698A>G (p.Gln1233Arg) http://identifiers.org/clinvar/330992 ^@ NM_005270.4(GLI2):c.4207A>G (p.Met1403Val) http://identifiers.org/clinvar/297409 ^@ NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) http://identifiers.org/clinvar/331000 ^@ NM_005270.4(GLI2):c.*42C>T http://identifiers.org/clinvar/331743 ^@ NM_021007.2(SCN2A):c.*47G>T http://identifiers.org/clinvar/331005 ^@ NM_005270.4(GLI2):c.*569T>A http://identifiers.org/clinvar/297412 ^@ NM_005373.2(MPL):c.*86C>T http://identifiers.org/clinvar/331006 ^@ NM_005270.4(GLI2):c.*816G>C http://identifiers.org/clinvar/331016 ^@ NM_005270.4(GLI2):c.*1369_*1376dupACACACAC http://identifiers.org/clinvar/331022 ^@ NM_005270.4(GLI2):c.*1376_*1377insACCCCC http://identifiers.org/clinvar/331023 ^@ NM_005270.4(GLI2):c.*1376_*1379dupCCCC http://identifiers.org/clinvar/297417 ^@ NM_005373.2(MPL):c.*657C>T http://identifiers.org/clinvar/331033 ^@ NM_139343.2(BIN1):c.*479delA http://identifiers.org/clinvar/331034 ^@ NM_139343.2(BIN1):c.*449G>A http://identifiers.org/clinvar/297422 ^@ NM_005373.2(MPL):c.*748C>T http://identifiers.org/clinvar/331038 ^@ NM_139343.2(BIN1):c.*214G>A http://identifiers.org/clinvar/331751 ^@ NM_021007.2(SCN2A):c.*1000G>T http://identifiers.org/clinvar/331752 ^@ NM_021007.2(SCN2A):c.*1003G>C http://identifiers.org/clinvar/331040 ^@ NM_139343.2(BIN1):c.*82C>T http://identifiers.org/clinvar/331763 ^@ NM_021007.2(SCN2A):c.*2358A>C http://identifiers.org/clinvar/297232 ^@ NM_000310.3(PPT1):c.*568A>G http://identifiers.org/clinvar/297234 ^@ NM_000310.3(PPT1):c.*505C>G http://identifiers.org/clinvar/331047 ^@ NM_139343.2(BIN1):c.1322C>T (p.Thr441Ile) http://identifiers.org/clinvar/297424 ^@ NM_005373.2(MPL):c.*882C>T http://identifiers.org/clinvar/331767 ^@ NM_021007.2(SCN2A):c.*2440C>G http://identifiers.org/clinvar/331048 ^@ NM_139343.2(BIN1):c.1143G>A (p.Pro381=) http://identifiers.org/clinvar/331050 ^@ NM_139343.2(BIN1):c.1131+9C>T http://identifiers.org/clinvar/331068 ^@ NM_000122.1(ERCC3):c.*259G>A http://identifiers.org/clinvar/297236 ^@ NM_000310.3(PPT1):c.*474T>C http://identifiers.org/clinvar/331778 ^@ NM_004482.3(GALNT3):c.*281T>A http://identifiers.org/clinvar/331779 ^@ NM_004482.3(GALNT3):c.*143G>A http://identifiers.org/clinvar/297427 ^@ NM_005373.2(MPL):c.*1054G>A http://identifiers.org/clinvar/297429 ^@ NM_005373.2(MPL):c.*1116G>A http://identifiers.org/clinvar/297430 ^@ NM_005373.2(MPL):c.*1126A>G http://identifiers.org/clinvar/331069 ^@ NM_000122.1(ERCC3):c.*242dupA http://identifiers.org/clinvar/297450 ^@ NM_020365.4(EIF2B3):c.44G>A (p.Arg15Gln) http://identifiers.org/clinvar/331782 ^@ NM_004482.3(GALNT3):c.851A>G (p.Tyr284Cys) http://identifiers.org/clinvar/297452 ^@ NM_020365.4(EIF2B3):c.-56G>A http://identifiers.org/clinvar/297240 ^@ NM_000310.3(PPT1):c.*285T>G http://identifiers.org/clinvar/331077 ^@ NM_000122.1(ERCC3):c.1929G>T (p.Val643=) http://identifiers.org/clinvar/331083 ^@ NM_000122.1(ERCC3):c.1119G>A (p.Gln373=) http://identifiers.org/clinvar/331794 ^@ NM_004482.3(GALNT3):c.-309G>A http://identifiers.org/clinvar/331090 ^@ NM_000122.1(ERCC3):c.615G>A (p.Glu205=) http://identifiers.org/clinvar/331795 ^@ NM_004482.3(GALNT3):c.-358C>T http://identifiers.org/clinvar/331091 ^@ NM_000122.1(ERCC3):c.385G>A (p.Val129Ile) http://identifiers.org/clinvar/297251 ^@ NM_000310.3(PPT1):c.-109C>A http://identifiers.org/clinvar/297456 ^@ NM_000374.4(UROD):c.-52C>A http://identifiers.org/clinvar/331099 ^@ NM_000312.3(PROC):c.-55C>T http://identifiers.org/clinvar/297459 ^@ NM_000374.4(UROD):c.450G>A (p.Pro150=) http://identifiers.org/clinvar/297467 ^@ NM_001048171.1(MUTYH):c.1477-5C>A http://identifiers.org/clinvar/331796 ^@ NM_004482.3(GALNT3):c.-367_-363delTCGCC http://identifiers.org/clinvar/297471 ^@ NM_001048171.1(MUTYH):c.97C>T (p.Gln33Ter) http://identifiers.org/clinvar/331100 ^@ NM_000312.3(PROC):c.-33C>T http://identifiers.org/clinvar/331101 ^@ NM_000312.3(PROC):c.-21-5C>T http://identifiers.org/clinvar/331797 ^@ NM_024753.4(TTC21B):c.*1123dupT http://identifiers.org/clinvar/297257 ^@ NM_005857.4(ZMPSTE24):c.-46G>A http://identifiers.org/clinvar/297258 ^@ NM_005857.4(ZMPSTE24):c.-13G>A http://identifiers.org/clinvar/297260 ^@ NM_005857.4(ZMPSTE24):c.237C>T (p.Phe79=) http://identifiers.org/clinvar/297264 ^@ NM_005857.4(ZMPSTE24):c.1050T>C (p.Ile350=) http://identifiers.org/clinvar/297268 ^@ NM_005857.4(ZMPSTE24):c.*212G>T http://identifiers.org/clinvar/297473 ^@ NM_001048171.1(MUTYH):c.-100C>A http://identifiers.org/clinvar/331798 ^@ NM_024753.4(TTC21B):c.*1105G>T http://identifiers.org/clinvar/331801 ^@ NM_024753.4(TTC21B):c.*878A>G http://identifiers.org/clinvar/297475 ^@ NM_015506.2(MMACHC):c.-148T>C http://identifiers.org/clinvar/297484 ^@ NM_015506.2(MMACHC):c.389A>G (p.Tyr130Cys) http://identifiers.org/clinvar/297486 ^@ NM_015506.2(MMACHC):c.433A>T (p.Ile145Leu) http://identifiers.org/clinvar/297277 ^@ NM_005857.4(ZMPSTE24):c.*1492A>G http://identifiers.org/clinvar/297491 ^@ NM_015506.2(MMACHC):c.*11T>C http://identifiers.org/clinvar/331804 ^@ NM_024753.4(TTC21B):c.*680C>T http://identifiers.org/clinvar/331805 ^@ NM_024753.4(TTC21B):c.*656G>A http://identifiers.org/clinvar/297493 ^@ NM_015506.2(MMACHC):c.*84G>T http://identifiers.org/clinvar/297495 ^@ NM_015506.2(MMACHC):c.*185A>T http://identifiers.org/clinvar/297497 ^@ NM_015506.2(MMACHC):c.*201_*202insATTTT http://identifiers.org/clinvar/331108 ^@ NM_000312.3(PROC):c.678+10G>A http://identifiers.org/clinvar/331110 ^@ NM_000312.3(PROC):c.1065C>T (p.Asn355=) http://identifiers.org/clinvar/297278 ^@ NM_001852.3(COL9A2):c.*683G>A http://identifiers.org/clinvar/297282 ^@ NM_001852.3(COL9A2):c.*386C>T http://identifiers.org/clinvar/331112 ^@ NM_000312.3(PROC):c.1161T>C (p.Cys387=) http://identifiers.org/clinvar/331114 ^@ NM_000312.3(PROC):c.*146T>C http://identifiers.org/clinvar/331810 ^@ NM_024753.4(TTC21B):c.*531A>G http://identifiers.org/clinvar/331811 ^@ NM_024753.4(TTC21B):c.*517G>A http://identifiers.org/clinvar/331118 ^@ NM_012233.2(RAB3GAP1):c.239T>C (p.Val80Ala) http://identifiers.org/clinvar/331129 ^@ NM_012233.2(RAB3GAP1):c.2098A>C (p.Arg700=) http://identifiers.org/clinvar/331130 ^@ NM_012233.2(RAB3GAP1):c.2275C>T (p.Arg759Trp) http://identifiers.org/clinvar/297287 ^@ NM_001852.3(COL9A2):c.*230C>T http://identifiers.org/clinvar/331815 ^@ NM_024753.4(TTC21B):c.*451G>C http://identifiers.org/clinvar/331821 ^@ NM_024753.4(TTC21B):c.3042A>G (p.Lys1014=) http://identifiers.org/clinvar/331136 ^@ NM_012233.2(RAB3GAP1):c.*252T>G http://identifiers.org/clinvar/331826 ^@ NM_024753.4(TTC21B):c.2622T>G (p.Asp874Glu) http://identifiers.org/clinvar/331830 ^@ NM_024753.4(TTC21B):c.2100G>A (p.Lys700=) http://identifiers.org/clinvar/297503 ^@ NM_015506.2(MMACHC):c.*310G>A http://identifiers.org/clinvar/297504 ^@ NM_015506.2(MMACHC):c.*345C>G http://identifiers.org/clinvar/297290 ^@ NM_001852.3(COL9A2):c.1870+9T>C http://identifiers.org/clinvar/297510 ^@ NM_015506.2(MMACHC):c.*740T>C http://identifiers.org/clinvar/297292 ^@ NM_001852.3(COL9A2):c.1824A>G (p.Glu608=) http://identifiers.org/clinvar/297293 ^@ NM_001852.3(COL9A2):c.1732C>G (p.Pro578Ala) http://identifiers.org/clinvar/297511 ^@ NM_015506.2(MMACHC):c.*818C>T http://identifiers.org/clinvar/297296 ^@ NM_001852.3(COL9A2):c.1535G>A (p.Arg512Lys) http://identifiers.org/clinvar/297297 ^@ NM_001852.3(COL9A2):c.1400A>G (p.Gln467Arg) http://identifiers.org/clinvar/331150 ^@ NM_012233.2(RAB3GAP1):c.*1397C>T http://identifiers.org/clinvar/297300 ^@ NM_001852.3(COL9A2):c.1162-7A>G http://identifiers.org/clinvar/331151 ^@ NM_012233.2(RAB3GAP1):c.*1511G>A http://identifiers.org/clinvar/297521 ^@ NM_015506.2(MMACHC):c.*1239G>T http://identifiers.org/clinvar/297523 ^@ NM_015506.2(MMACHC):c.*1305C>A http://identifiers.org/clinvar/297526 ^@ NM_015506.2(MMACHC):c.*1585G>C http://identifiers.org/clinvar/297532 ^@ NM_017739.3(POMGNT1):c.*451C>T http://identifiers.org/clinvar/331839 ^@ NM_024753.4(TTC21B):c.481A>G (p.Thr161Ala) http://identifiers.org/clinvar/331841 ^@ NM_024753.4(TTC21B):c.63T>C (p.His21=) http://identifiers.org/clinvar/297301 ^@ NM_001852.3(COL9A2):c.1124G>T (p.Arg375Leu) http://identifiers.org/clinvar/297302 ^@ NM_001852.3(COL9A2):c.1123C>G (p.Arg375Gly) http://identifiers.org/clinvar/297304 ^@ NM_001852.3(COL9A2):c.1053+7C>T http://identifiers.org/clinvar/297305 ^@ NM_001852.3(COL9A2):c.942G>A (p.Thr314=) http://identifiers.org/clinvar/297310 ^@ NM_001852.3(COL9A2):c.304-13G>A http://identifiers.org/clinvar/297318 ^@ NM_148960.2(CLDN19):c.*1642T>C http://identifiers.org/clinvar/297326 ^@ NM_148960.2(CLDN19):c.*873A>G http://identifiers.org/clinvar/331155 ^@ NM_002299.3(LCT):c.*429A>C http://identifiers.org/clinvar/297534 ^@ NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) http://identifiers.org/clinvar/297537 ^@ NM_017739.3(POMGNT1):c.277A>G (p.Ser93Gly) http://identifiers.org/clinvar/331156 ^@ NM_002299.3(LCT):c.*325G>C http://identifiers.org/clinvar/331851 ^@ NM_024753.4(TTC21B):c.-89C>G http://identifiers.org/clinvar/331856 ^@ NM_001165963.1(SCN1A):c.*1961C>T http://identifiers.org/clinvar/331162 ^@ NM_002299.3(LCT):c.5768C>A (p.Pro1923Gln) http://identifiers.org/clinvar/331168 ^@ NM_002299.3(LCT):c.4916A>G (p.Asn1639Ser) http://identifiers.org/clinvar/331173 ^@ NM_002299.3(LCT):c.4576C>T (p.Leu1526=) http://identifiers.org/clinvar/331174 ^@ NM_002299.3(LCT):c.4434T>C (p.Asp1478=) http://identifiers.org/clinvar/331182 ^@ NM_002299.3(LCT):c.3848C>T (p.Thr1283Met) http://identifiers.org/clinvar/297538 ^@ NM_017739.3(POMGNT1):c.129C>T (p.Ala43=) http://identifiers.org/clinvar/331195 ^@ NM_002299.3(LCT):c.2714A>G (p.Asp905Gly) http://identifiers.org/clinvar/331197 ^@ NM_002299.3(LCT):c.2177G>A (p.Arg726His) http://identifiers.org/clinvar/331198 ^@ NM_002299.3(LCT):c.1902C>T (p.Pro634=) http://identifiers.org/clinvar/297328 ^@ NM_148960.2(CLDN19):c.*735G>C http://identifiers.org/clinvar/331859 ^@ NM_001165963.1(SCN1A):c.*1872delT http://identifiers.org/clinvar/331863 ^@ NM_001165963.1(SCN1A):c.*1693A>G http://identifiers.org/clinvar/297541 ^@ NM_003035.2(STIL):c.*992A>G http://identifiers.org/clinvar/297542 ^@ NM_003035.2(STIL):c.*978T>C http://identifiers.org/clinvar/297543 ^@ NM_003035.2(STIL):c.*883A>G http://identifiers.org/clinvar/331204 ^@ NM_002299.3(LCT):c.1084A>G (p.Ile362Val) http://identifiers.org/clinvar/331869 ^@ NM_001165963.1(SCN1A):c.*1025T>C http://identifiers.org/clinvar/331871 ^@ NM_001165963.1(SCN1A):c.*912T>A http://identifiers.org/clinvar/331205 ^@ NM_002299.3(LCT):c.1045G>A (p.Glu349Lys) http://identifiers.org/clinvar/331209 ^@ NM_002299.3(LCT):c.621C>T (p.His207=) http://identifiers.org/clinvar/297330 ^@ NM_148960.2(CLDN19):c.*547C>T http://identifiers.org/clinvar/331875 ^@ NM_001165963.1(SCN1A):c.*588A>G http://identifiers.org/clinvar/331215 ^@ NM_000547.5(TPO):c.-80A>G http://identifiers.org/clinvar/331219 ^@ NM_000547.5(TPO):c.30G>A (p.Thr10=) http://identifiers.org/clinvar/331879 ^@ NM_001165963.1(SCN1A):c.*129T>G http://identifiers.org/clinvar/297332 ^@ NM_148960.2(CLDN19):c.*530delC http://identifiers.org/clinvar/331880 ^@ NM_001165963.1(SCN1A):c.5992G>C (p.Glu1998Gln) http://identifiers.org/clinvar/297553 ^@ NM_003035.2(STIL):c.2844A>G (p.Leu948=) http://identifiers.org/clinvar/297555 ^@ NM_003035.2(STIL):c.2384-13A>G http://identifiers.org/clinvar/297337 ^@ NM_148960.2(CLDN19):c.*91A>G http://identifiers.org/clinvar/331881 ^@ NM_001165963.1(SCN1A):c.4941A>G (p.Leu1647=) http://identifiers.org/clinvar/297339 ^@ NM_148960.2(CLDN19):c.626+15C>T http://identifiers.org/clinvar/297560 ^@ NM_003035.2(STIL):c.1667C>T (p.Ser556Phe) http://identifiers.org/clinvar/297568 ^@ NM_003035.2(STIL):c.25C>T (p.Arg9Trp) http://identifiers.org/clinvar/331890 ^@ NM_001165963.1(SCN1A):c.2177-11dupT http://identifiers.org/clinvar/331891 ^@ NM_001165963.1(SCN1A):c.2176+11A>C http://identifiers.org/clinvar/331892 ^@ NM_001165963.1(SCN1A):c.2044-5delT http://identifiers.org/clinvar/297341 ^@ NM_148960.2(CLDN19):c.561G>A (p.Pro187=) http://identifiers.org/clinvar/297346 ^@ NM_148960.2(CLDN19):c.65T>C (p.Ile22Thr) http://identifiers.org/clinvar/331228 ^@ NM_014795.3(ZEB2):c.*4845dupA http://identifiers.org/clinvar/331897 ^@ NM_002977.3(SCN9A):c.*3282A>C http://identifiers.org/clinvar/331898 ^@ NM_002977.3(SCN9A):c.*3102C>T http://identifiers.org/clinvar/331899 ^@ NM_002977.3(SCN9A):c.*3038C>T http://identifiers.org/clinvar/331239 ^@ NM_014795.3(ZEB2):c.*3456G>A http://identifiers.org/clinvar/297349 ^@ NM_148960.2(CLDN19):c.-146G>A http://identifiers.org/clinvar/331245 ^@ NM_014795.3(ZEB2):c.*3084C>T http://identifiers.org/clinvar/331901 ^@ NM_002977.3(SCN9A):c.*2928G>A http://identifiers.org/clinvar/331248 ^@ NM_014795.3(ZEB2):c.*3010C>T http://identifiers.org/clinvar/331249 ^@ NM_014795.3(ZEB2):c.*2998A>C http://identifiers.org/clinvar/331251 ^@ NM_014795.3(ZEB2):c.*2948G>T http://identifiers.org/clinvar/297574 ^@ NM_004153.3(ORC1):c.*231C>T http://identifiers.org/clinvar/331259 ^@ NM_014795.3(ZEB2):c.*2404_*2405dupTA http://identifiers.org/clinvar/297353 ^@ NM_006516.2(SLC2A1):c.*1564C>T http://identifiers.org/clinvar/331905 ^@ NM_002977.3(SCN9A):c.*2721C>G http://identifiers.org/clinvar/297356 ^@ NM_006516.2(SLC2A1):c.*1281A>G http://identifiers.org/clinvar/297357 ^@ NM_006516.2(SLC2A1):c.*1246G>A http://identifiers.org/clinvar/297360 ^@ NM_006516.2(SLC2A1):c.*1149C>A http://identifiers.org/clinvar/331260 ^@ NM_014795.3(ZEB2):c.*2402_*2405dupTATA http://identifiers.org/clinvar/297579 ^@ NM_004153.3(ORC1):c.2314G>A (p.Val772Ile) http://identifiers.org/clinvar/331908 ^@ NM_002977.3(SCN9A):c.*2616_*2626delAACTTTTTTAA http://identifiers.org/clinvar/297362 ^@ NM_006516.2(SLC2A1):c.*1081T>A http://identifiers.org/clinvar/297363 ^@ NM_006516.2(SLC2A1):c.*1016A>G http://identifiers.org/clinvar/297365 ^@ NM_006516.2(SLC2A1):c.*784A>G http://identifiers.org/clinvar/331909 ^@ NM_002977.3(SCN9A):c.*2540C>T http://identifiers.org/clinvar/331917 ^@ NM_002977.3(SCN9A):c.*2212T>C http://identifiers.org/clinvar/331925 ^@ NM_002977.3(SCN9A):c.*1796C>T http://identifiers.org/clinvar/331267 ^@ NM_014795.3(ZEB2):c.*2060C>A http://identifiers.org/clinvar/331940 ^@ NM_002977.3(SCN9A):c.*948G>A http://identifiers.org/clinvar/297580 ^@ NM_004153.3(ORC1):c.1819A>G (p.Thr607Ala) http://identifiers.org/clinvar/297581 ^@ NM_004153.3(ORC1):c.1671C>T (p.Ala557=) http://identifiers.org/clinvar/297586 ^@ NM_004153.3(ORC1):c.535C>A (p.Pro179Thr) http://identifiers.org/clinvar/297597 ^@ NM_000098.2(CPT2):c.-229G>T http://identifiers.org/clinvar/297600 ^@ NM_000098.2(CPT2):c.-101C>A http://identifiers.org/clinvar/297369 ^@ NM_006516.2(SLC2A1):c.*597G>A http://identifiers.org/clinvar/331268 ^@ NM_014795.3(ZEB2):c.*2041C>T http://identifiers.org/clinvar/297386 ^@ NM_006516.2(SLC2A1):c.-225T>G http://identifiers.org/clinvar/331950 ^@ NM_002977.3(SCN9A):c.*244_*247dupGATT http://identifiers.org/clinvar/331270 ^@ NM_014795.3(ZEB2):c.*1985A>T http://identifiers.org/clinvar/331273 ^@ NM_014795.3(ZEB2):c.*1965A>G http://identifiers.org/clinvar/331277 ^@ NM_014795.3(ZEB2):c.*1817C>G http://identifiers.org/clinvar/331958 ^@ NM_002977.3(SCN9A):c.*125C>T http://identifiers.org/clinvar/297604 ^@ NM_000098.2(CPT2):c.683A>G (p.Lys228Arg) http://identifiers.org/clinvar/297605 ^@ NM_000098.2(CPT2):c.852C>T (p.Pro284=) http://identifiers.org/clinvar/331963 ^@ NM_002977.3(SCN9A):c.4462C>A (p.Arg1488=) http://identifiers.org/clinvar/297613 ^@ NM_014762.3(DHCR24):c.*2554C>T http://identifiers.org/clinvar/297387 ^@ NM_006516.2(SLC2A1):c.-242C>T http://identifiers.org/clinvar/297617 ^@ NM_014762.3(DHCR24):c.*2295G>C http://identifiers.org/clinvar/297391 ^@ NM_006516.2(SLC2A1):c.-388G>T http://identifiers.org/clinvar/331969 ^@ NM_002977.3(SCN9A):c.3464G>A (p.Cys1155Tyr) http://identifiers.org/clinvar/297633 ^@ NM_014762.3(DHCR24):c.*913C>T http://identifiers.org/clinvar/297634 ^@ NM_014762.3(DHCR24):c.*788A>G http://identifiers.org/clinvar/331982 ^@ NM_002977.3(SCN9A):c.2404A>G (p.Ser802Gly) http://identifiers.org/clinvar/331984 ^@ NM_002977.3(SCN9A):c.1947G>A (p.Thr649=) http://identifiers.org/clinvar/331996 ^@ NM_002977.3(SCN9A):c.1014T>G (p.Asp338Glu) http://identifiers.org/clinvar/332000 ^@ NM_002977.3(SCN9A):c.213G>A (p.Val71=) http://identifiers.org/clinvar/297637 ^@ NM_014762.3(DHCR24):c.*653G>A http://identifiers.org/clinvar/297394 ^@ NM_006516.2(SLC2A1):c.-483G>T http://identifiers.org/clinvar/332004 ^@ NM_002977.3(SCN9A):c.-283G>C http://identifiers.org/clinvar/332006 ^@ NM_002977.3(SCN9A):c.-294T>C http://identifiers.org/clinvar/297396 ^@ NM_006516.2(SLC2A1):c.-510G>C http://identifiers.org/clinvar/332012 ^@ NM_003742.2(ABCB11):c.*440G>A http://identifiers.org/clinvar/331278 ^@ NM_014795.3(ZEB2):c.*1796dupA http://identifiers.org/clinvar/331281 ^@ NM_014795.3(ZEB2):c.*1637C>G http://identifiers.org/clinvar/331290 ^@ NM_014795.3(ZEB2):c.*560delT http://identifiers.org/clinvar/297411 ^@ NM_005373.2(MPL):c.1666G>T (p.Val556Phe) http://identifiers.org/clinvar/332014 ^@ NM_003742.2(ABCB11):c.*368G>A http://identifiers.org/clinvar/297415 ^@ NM_005373.2(MPL):c.*400C>T http://identifiers.org/clinvar/297418 ^@ NM_005373.2(MPL):c.*662C>T http://identifiers.org/clinvar/297419 ^@ NM_005373.2(MPL):c.*701_*705dupTTTTT http://identifiers.org/clinvar/297645 ^@ NM_014762.3(DHCR24):c.*324T>C http://identifiers.org/clinvar/297653 ^@ NM_014762.3(DHCR24):c.*27dupA http://identifiers.org/clinvar/297656 ^@ NM_014762.3(DHCR24):c.1020+10A>G http://identifiers.org/clinvar/297657 ^@ NM_014762.3(DHCR24):c.798C>T (p.Phe266=) http://identifiers.org/clinvar/297661 ^@ NM_014762.3(DHCR24):c.615C>T (p.Ser205=) http://identifiers.org/clinvar/332020 ^@ NM_003742.2(ABCB11):c.3330G>A (p.Ala1110=) http://identifiers.org/clinvar/331294 ^@ NM_014795.3(ZEB2):c.*464_*466delGAT http://identifiers.org/clinvar/297664 ^@ NM_014762.3(DHCR24):c.180C>T (p.Leu60=) http://identifiers.org/clinvar/297665 ^@ NM_014762.3(DHCR24):c.-11G>A http://identifiers.org/clinvar/297668 ^@ NM_014762.3(DHCR24):c.-51G>T http://identifiers.org/clinvar/332034 ^@ NM_003742.2(ABCB11):c.1197+2T>C http://identifiers.org/clinvar/297677 ^@ NM_057176.2(BSND):c.216C>A (p.Ile72=) http://identifiers.org/clinvar/331297 ^@ NM_014795.3(ZEB2):c.*35dupT http://identifiers.org/clinvar/332038 ^@ NM_003742.2(ABCB11):c.800C>T (p.Thr267Met) http://identifiers.org/clinvar/331301 ^@ NM_014795.3(ZEB2):c.1113C>T (p.Asn371=) http://identifiers.org/clinvar/331307 ^@ NM_000547.5(TPO):c.524G>A (p.Arg175Gln) http://identifiers.org/clinvar/331311 ^@ NM_000547.5(TPO):c.759C>T (p.Phe253=) http://identifiers.org/clinvar/297680 ^@ NM_057176.2(BSND):c.713T>A (p.Phe238Tyr) http://identifiers.org/clinvar/331318 ^@ NM_000547.5(TPO):c.1338+5G>A http://identifiers.org/clinvar/331321 ^@ NM_018328.4(MBD5):c.-663C>T http://identifiers.org/clinvar/331322 ^@ NM_018328.4(MBD5):c.-659T>C http://identifiers.org/clinvar/297421 ^@ NM_005373.2(MPL):c.*709C>T http://identifiers.org/clinvar/332042 ^@ NM_004525.2(LRP2):c.*1373A>T http://identifiers.org/clinvar/332043 ^@ NM_004525.2(LRP2):c.*1222C>T http://identifiers.org/clinvar/332050 ^@ NM_004525.2(LRP2):c.*1107G>T http://identifiers.org/clinvar/331323 ^@ NM_018328.4(MBD5):c.-591dupA http://identifiers.org/clinvar/332055 ^@ NM_004525.2(LRP2):c.*910delA http://identifiers.org/clinvar/332052 ^@ NM_004525.2(LRP2):c.*910dupA http://identifiers.org/clinvar/331326 ^@ NM_018328.4(MBD5):c.-457T>C http://identifiers.org/clinvar/332057 ^@ NM_004525.2(LRP2):c.*739C>G http://identifiers.org/clinvar/331329 ^@ NM_018328.4(MBD5):c.-63C>G http://identifiers.org/clinvar/331330 ^@ NM_018328.4(MBD5):c.113+8C>A http://identifiers.org/clinvar/331335 ^@ NM_018328.4(MBD5):c.1793A>G (p.Asn598Ser) http://identifiers.org/clinvar/332062 ^@ NM_004525.2(LRP2):c.*297A>G http://identifiers.org/clinvar/332065 ^@ NM_004525.2(LRP2):c.*18G>A http://identifiers.org/clinvar/331337 ^@ NM_018328.4(MBD5):c.2277G>A (p.Val759=) http://identifiers.org/clinvar/331339 ^@ NM_018328.4(MBD5):c.2371G>A (p.Gly791Arg) http://identifiers.org/clinvar/331340 ^@ NM_018328.4(MBD5):c.2454G>A (p.Thr818=) http://identifiers.org/clinvar/331341 ^@ NM_018328.4(MBD5):c.2825T>C (p.Leu942Pro) http://identifiers.org/clinvar/297683 ^@ NM_174936.3(PCSK9):c.-353G>T http://identifiers.org/clinvar/332066 ^@ NM_004525.2(LRP2):c.13937C>T (p.Ala4646Val) http://identifiers.org/clinvar/297688 ^@ NM_174936.3(PCSK9):c.-200C>A http://identifiers.org/clinvar/297423 ^@ NM_005373.2(MPL):c.*871G>A http://identifiers.org/clinvar/332067 ^@ NM_004525.2(LRP2):c.13921A>T (p.Thr4641Ser) http://identifiers.org/clinvar/297689 ^@ NM_174936.3(PCSK9):c.-185A>G http://identifiers.org/clinvar/332074 ^@ NM_004525.2(LRP2):c.13380G>A (p.Lys4460=) http://identifiers.org/clinvar/297432 ^@ NM_005373.2(MPL):c.*1216A>G http://identifiers.org/clinvar/332087 ^@ NM_004525.2(LRP2):c.11769G>A (p.Pro3923=) http://identifiers.org/clinvar/331344 ^@ NM_018328.4(MBD5):c.3352C>T (p.Pro1118Ser) http://identifiers.org/clinvar/297698 ^@ NM_174936.3(PCSK9):c.996+8delC http://identifiers.org/clinvar/297701 ^@ NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) http://identifiers.org/clinvar/332088 ^@ NM_004525.2(LRP2):c.11759-11T>G http://identifiers.org/clinvar/297709 ^@ NM_174936.3(PCSK9):c.2022C>T (p.Ala674=) http://identifiers.org/clinvar/331345 ^@ NM_018328.4(MBD5):c.3620G>A (p.Arg1207Gln) http://identifiers.org/clinvar/332091 ^@ NM_004525.2(LRP2):c.11478G>A (p.Ala3826=) http://identifiers.org/clinvar/332092 ^@ NM_004525.2(LRP2):c.11346C>T (p.Asn3782=) http://identifiers.org/clinvar/331347 ^@ NM_018328.4(MBD5):c.4221C>T (p.Asp1407=) http://identifiers.org/clinvar/332102 ^@ NM_004525.2(LRP2):c.10647G>A (p.Pro3549=) http://identifiers.org/clinvar/332110 ^@ NM_004525.2(LRP2):c.9591C>T (p.Ile3197=) http://identifiers.org/clinvar/332118 ^@ NM_004525.2(LRP2):c.9032+6T>C http://identifiers.org/clinvar/297433 ^@ NM_005373.2(MPL):c.*1351T>C http://identifiers.org/clinvar/297435 ^@ NM_005373.2(MPL):c.*1506G>A http://identifiers.org/clinvar/331348 ^@ NM_018328.4(MBD5):c.4432G>A (p.Gly1478Ser) http://identifiers.org/clinvar/332121 ^@ NM_004525.2(LRP2):c.8778C>T (p.Asp2926=) http://identifiers.org/clinvar/331351 ^@ NM_018328.4(MBD5):c.*229G>A http://identifiers.org/clinvar/297711 ^@ NM_174936.3(PCSK9):c.*58A>G http://identifiers.org/clinvar/332123 ^@ NM_004525.2(LRP2):c.8702A>G (p.His2901Arg) http://identifiers.org/clinvar/331353 ^@ NM_018328.4(MBD5):c.*288G>A http://identifiers.org/clinvar/331354 ^@ NM_018328.4(MBD5):c.*299T>C http://identifiers.org/clinvar/297443 ^@ NM_020365.4(EIF2B3):c.743A>G (p.Glu248Gly) http://identifiers.org/clinvar/331325 ^@ NM_000547.5(TPO):c.1728G>A (p.Ala576=) http://identifiers.org/clinvar/332124 ^@ NM_004525.2(LRP2):c.8699-8C>T http://identifiers.org/clinvar/332126 ^@ NM_004525.2(LRP2):c.8453-11T>C http://identifiers.org/clinvar/297713 ^@ NM_174936.3(PCSK9):c.*90C>G http://identifiers.org/clinvar/332133 ^@ NM_004525.2(LRP2):c.7627G>A (p.Val2543Ile) http://identifiers.org/clinvar/297716 ^@ NM_174936.3(PCSK9):c.*171C>T http://identifiers.org/clinvar/297730 ^@ NM_174936.3(PCSK9):c.*488C>A http://identifiers.org/clinvar/297732 ^@ NM_174936.3(PCSK9):c.*537delT http://identifiers.org/clinvar/331357 ^@ NM_000547.5(TPO):c.1852G>A (p.Val618Met) http://identifiers.org/clinvar/297743 ^@ NM_174936.3(PCSK9):c.*1085G>A http://identifiers.org/clinvar/297457 ^@ NM_000374.4(UROD):c.-51T>C http://identifiers.org/clinvar/297460 ^@ NM_000374.4(UROD):c.474+15G>C http://identifiers.org/clinvar/297752 ^@ NM_002353.2(TACSTD2):c.*637G>A http://identifiers.org/clinvar/297462 ^@ NM_000374.4(UROD):c.738C>T (p.Ala246=) http://identifiers.org/clinvar/297465 ^@ NM_000374.4(UROD):c.*80A>G http://identifiers.org/clinvar/297468 ^@ NM_001048171.1(MUTYH):c.1435-11T>G http://identifiers.org/clinvar/297470 ^@ NM_001048171.1(MUTYH):c.347-13C>G http://identifiers.org/clinvar/332134 ^@ NM_004525.2(LRP2):c.7498C>T (p.Arg2500Cys) http://identifiers.org/clinvar/297754 ^@ NM_002353.2(TACSTD2):c.*421A>G http://identifiers.org/clinvar/332135 ^@ NM_004525.2(LRP2):c.7431T>C (p.Thr2477=) http://identifiers.org/clinvar/297755 ^@ NM_002353.2(TACSTD2):c.*396T>C http://identifiers.org/clinvar/297758 ^@ NM_002353.2(TACSTD2):c.*202A>G http://identifiers.org/clinvar/297760 ^@ NM_002353.2(TACSTD2):c.*98C>T http://identifiers.org/clinvar/331358 ^@ NM_000547.5(TPO):c.1857C>G (p.Ala619=) http://identifiers.org/clinvar/332138 ^@ NM_004525.2(LRP2):c.6980C>T (p.Thr2327Ile) http://identifiers.org/clinvar/331376 ^@ NM_015702.2(MMADHC):c.759A>T (p.Gly253=) http://identifiers.org/clinvar/297472 ^@ NM_001048171.1(MUTYH):c.37-14T>A http://identifiers.org/clinvar/331380 ^@ NM_015702.2(MMADHC):c.412G>A (p.Glu138Lys) http://identifiers.org/clinvar/297474 ^@ NM_001048171.1(MUTYH):c.-177T>C http://identifiers.org/clinvar/332142 ^@ NM_004525.2(LRP2):c.6770T>C (p.Ile2257Thr) http://identifiers.org/clinvar/332148 ^@ NM_004525.2(LRP2):c.6267G>A (p.Pro2089=) http://identifiers.org/clinvar/332149 ^@ NM_004525.2(LRP2):c.6256A>T (p.Thr2086Ser) http://identifiers.org/clinvar/332151 ^@ NM_004525.2(LRP2):c.6072C>A (p.Asn2024Lys) http://identifiers.org/clinvar/297477 ^@ NM_015506.2(MMACHC):c.-94A>G http://identifiers.org/clinvar/297478 ^@ NM_015506.2(MMACHC):c.-25G>A http://identifiers.org/clinvar/331381 ^@ NM_015702.2(MMADHC):c.254A>G (p.Asn85Ser) http://identifiers.org/clinvar/332157 ^@ NM_004525.2(LRP2):c.5648+7A>C http://identifiers.org/clinvar/297479 ^@ NM_015506.2(MMACHC):c.67G>T (p.Val23Phe) http://identifiers.org/clinvar/332160 ^@ NM_004525.2(LRP2):c.5289T>G (p.Pro1763=) http://identifiers.org/clinvar/297764 ^@ NM_002353.2(TACSTD2):c.889A>G (p.Ile297Val) http://identifiers.org/clinvar/332164 ^@ NM_004525.2(LRP2):c.5099-5T>C http://identifiers.org/clinvar/332167 ^@ NM_004525.2(LRP2):c.4849T>A (p.Ser1617Thr) http://identifiers.org/clinvar/297766 ^@ NM_002353.2(TACSTD2):c.827G>A (p.Gly276Asp) http://identifiers.org/clinvar/297767 ^@ NM_002353.2(TACSTD2):c.762G>A (p.Glu254=) http://identifiers.org/clinvar/297772 ^@ NM_002353.2(TACSTD2):c.175G>A (p.Gly59Ser) http://identifiers.org/clinvar/331384 ^@ NM_015702.2(MMADHC):c.10-3T>C http://identifiers.org/clinvar/331388 ^@ NM_015702.2(MMADHC):c.-60G>A http://identifiers.org/clinvar/297480 ^@ NM_015506.2(MMACHC):c.241C>T (p.Gln81Ter) http://identifiers.org/clinvar/331390 ^@ NM_015702.2(MMADHC):c.-145A>G http://identifiers.org/clinvar/297776 ^@ NM_002353.2(TACSTD2):c.-56C>G http://identifiers.org/clinvar/332168 ^@ NM_004525.2(LRP2):c.4815T>C (p.Ile1605=) http://identifiers.org/clinvar/332172 ^@ NM_004525.2(LRP2):c.4503A>G (p.Arg1501=) http://identifiers.org/clinvar/297481 ^@ NM_015506.2(MMACHC):c.277-4C>G http://identifiers.org/clinvar/332179 ^@ NM_004525.2(LRP2):c.3551-9C>A http://identifiers.org/clinvar/331362 ^@ NM_000547.5(TPO):c.2007-5T>C http://identifiers.org/clinvar/331363 ^@ NM_000547.5(TPO):c.2116A>G (p.Met706Val) http://identifiers.org/clinvar/297778 ^@ NM_002353.2(TACSTD2):c.-169G>A http://identifiers.org/clinvar/331366 ^@ NM_000547.5(TPO):c.2215+5A>C http://identifiers.org/clinvar/332182 ^@ NM_004525.2(LRP2):c.3122A>G (p.Asn1041Ser) http://identifiers.org/clinvar/332183 ^@ NM_004525.2(LRP2):c.2934G>A (p.Thr978=) http://identifiers.org/clinvar/331391 ^@ NM_000547.5(TPO):c.2387-12T>C http://identifiers.org/clinvar/297784 ^@ NM_015102.4(NPHP4):c.4237G>A (p.Asp1413Asn) http://identifiers.org/clinvar/297482 ^@ NM_015506.2(MMACHC):c.326C>T (p.Pro109Leu) http://identifiers.org/clinvar/297487 ^@ NM_015506.2(MMACHC):c.545G>A (p.Cys182Tyr) http://identifiers.org/clinvar/297785 ^@ NM_015102.4(NPHP4):c.3964T>G (p.Cys1322Gly) http://identifiers.org/clinvar/331406 ^@ NM_004543.4(NEB):c.19351C>A (p.Pro6451Thr) http://identifiers.org/clinvar/332189 ^@ NM_004525.2(LRP2):c.2513+14T>C http://identifiers.org/clinvar/297488 ^@ NM_015506.2(MMACHC):c.691T>C (p.Leu231=) http://identifiers.org/clinvar/332192 ^@ NM_004525.2(LRP2):c.2079C>T (p.Phe693=) http://identifiers.org/clinvar/297494 ^@ NM_015506.2(MMACHC):c.*169G>A http://identifiers.org/clinvar/297498 ^@ NM_015506.2(MMACHC):c.*201G>T http://identifiers.org/clinvar/297509 ^@ NM_015506.2(MMACHC):c.*730C>T http://identifiers.org/clinvar/297791 ^@ NM_015102.4(NPHP4):c.3703C>T (p.Arg1235Cys) http://identifiers.org/clinvar/332197 ^@ NM_004525.2(LRP2):c.863G>A (p.Gly288Glu) http://identifiers.org/clinvar/332203 ^@ NM_004525.2(LRP2):c.428-8delT http://identifiers.org/clinvar/297801 ^@ NM_015102.4(NPHP4):c.2710G>A (p.Val904Ile) http://identifiers.org/clinvar/297803 ^@ NM_015102.4(NPHP4):c.2642C>T (p.Ala881Val) http://identifiers.org/clinvar/297804 ^@ NM_015102.4(NPHP4):c.2557G>T (p.Asp853Tyr) http://identifiers.org/clinvar/332209 ^@ NM_004525.2(LRP2):c.64C>T (p.Pro22Ser) http://identifiers.org/clinvar/331414 ^@ NM_004543.4(NEB):c.17867C>T (p.Thr5956Met) http://identifiers.org/clinvar/297808 ^@ NM_015102.4(NPHP4):c.2260G>A (p.Gly754Arg) http://identifiers.org/clinvar/331417 ^@ NM_004543.4(NEB):c.17399A>G (p.Asp5800Gly) http://identifiers.org/clinvar/297515 ^@ NM_015506.2(MMACHC):c.*969C>G http://identifiers.org/clinvar/331420 ^@ NM_004543.4(NEB):c.17169+7T>C http://identifiers.org/clinvar/297814 ^@ NM_015102.4(NPHP4):c.1929G>A (p.Met643Ile) http://identifiers.org/clinvar/297821 ^@ NM_015102.4(NPHP4):c.1408C>T (p.Arg470Trp) http://identifiers.org/clinvar/297516 ^@ NM_015506.2(MMACHC):c.*1000A>G http://identifiers.org/clinvar/331422 ^@ NM_004543.4(NEB):c.16947+13C>T http://identifiers.org/clinvar/331424 ^@ NM_004543.4(NEB):c.16758G>A (p.Arg5586=) http://identifiers.org/clinvar/332220 ^@ NM_000817.2(GAD1):c.-158G>A http://identifiers.org/clinvar/331429 ^@ NM_004543.4(NEB):c.15608A>G (p.Glu5203Gly) http://identifiers.org/clinvar/331433 ^@ NM_004543.4(NEB):c.15364-6_15364-4dupTTT http://identifiers.org/clinvar/331431 ^@ NM_004543.4(NEB):c.15364-4dupT http://identifiers.org/clinvar/297822 ^@ NM_015102.4(NPHP4):c.1330C>T (p.Arg444Trp) http://identifiers.org/clinvar/332221 ^@ NM_000817.2(GAD1):c.-147G>A http://identifiers.org/clinvar/297823 ^@ NM_015102.4(NPHP4):c.1196A>G (p.Glu399Gly) http://identifiers.org/clinvar/332223 ^@ NM_000817.2(GAD1):c.-41_-40insCT http://identifiers.org/clinvar/332226 ^@ NM_000817.2(GAD1):c.111T>C (p.His37=) http://identifiers.org/clinvar/297829 ^@ NM_015102.4(NPHP4):c.467A>G (p.His156Arg) http://identifiers.org/clinvar/297837 ^@ NM_015102.4(NPHP4):c.-225G>A http://identifiers.org/clinvar/297850 ^@ NM_013339.3(ALG6):c.728T>C (p.Val243Ala) http://identifiers.org/clinvar/297517 ^@ NM_015506.2(MMACHC):c.*1101G>C http://identifiers.org/clinvar/297527 ^@ NM_015506.2(MMACHC):c.*1601G>A http://identifiers.org/clinvar/331434 ^@ NM_004543.4(NEB):c.15264+15G>C http://identifiers.org/clinvar/331441 ^@ NM_004543.4(NEB):c.14762G>A (p.Ser4921Asn) http://identifiers.org/clinvar/297546 ^@ NM_003035.2(STIL):c.*577G>A http://identifiers.org/clinvar/331450 ^@ NM_004543.4(NEB):c.14294G>A (p.Arg4765Gln) http://identifiers.org/clinvar/331452 ^@ NM_004543.4(NEB):c.13697T>C (p.Leu4566Pro) http://identifiers.org/clinvar/331467 ^@ NM_004543.4(NEB):c.12090G>A (p.Lys4030=) http://identifiers.org/clinvar/297549 ^@ NM_003035.2(STIL):c.*252A>G http://identifiers.org/clinvar/331468 ^@ NM_004543.4(NEB):c.12080A>T (p.Asp4027Val) http://identifiers.org/clinvar/332228 ^@ NM_000817.2(GAD1):c.268C>T (p.Arg90Cys) http://identifiers.org/clinvar/331470 ^@ NM_004543.4(NEB):c.11122G>A (p.Val3708Met) http://identifiers.org/clinvar/297860 ^@ NM_013339.3(ALG6):c.*804_*805dupAT http://identifiers.org/clinvar/297867 ^@ NM_013339.3(ALG6):c.*1322A>G http://identifiers.org/clinvar/332231 ^@ NM_000817.2(GAD1):c.682A>C (p.Ile228Leu) http://identifiers.org/clinvar/332243 ^@ NM_000817.2(GAD1):c.1614G>C (p.Val538=) http://identifiers.org/clinvar/297868 ^@ NM_013339.3(ALG6):c.*1385T>C http://identifiers.org/clinvar/332244 ^@ NM_000817.2(GAD1):c.*67A>G http://identifiers.org/clinvar/297869 ^@ NM_013339.3(ALG6):c.*1415T>G http://identifiers.org/clinvar/297550 ^@ NM_003035.2(STIL):c.3571G>A (p.Asp1191Asn) http://identifiers.org/clinvar/331473 ^@ NM_004543.4(NEB):c.10632G>A (p.Pro3544=) http://identifiers.org/clinvar/297871 ^@ NM_002633.2(PGM1):c.262A>G (p.Ile88Val) http://identifiers.org/clinvar/297873 ^@ NM_002633.2(PGM1):c.420A>G (p.Pro140=) http://identifiers.org/clinvar/331480 ^@ NM_004543.4(NEB):c.9854G>A (p.Arg3285His) http://identifiers.org/clinvar/332252 ^@ NM_000817.2(GAD1):c.*1008C>T http://identifiers.org/clinvar/332256 ^@ NM_025000.3(DCAF17):c.-204C>T http://identifiers.org/clinvar/331482 ^@ NM_004543.4(NEB):c.9412G>A (p.Asp3138Asn) http://identifiers.org/clinvar/331485 ^@ NM_004543.4(NEB):c.8682C>A (p.Ser2894Arg) http://identifiers.org/clinvar/331486 ^@ NM_004543.4(NEB):c.8490G>A (p.Arg2830=) http://identifiers.org/clinvar/331487 ^@ NM_004543.4(NEB):c.8335A>T (p.Ile2779Phe) http://identifiers.org/clinvar/297556 ^@ NM_003035.2(STIL):c.2350A>T (p.Met784Leu) http://identifiers.org/clinvar/331491 ^@ NM_004543.4(NEB):c.7537-3C>A http://identifiers.org/clinvar/332260 ^@ NM_025000.3(DCAF17):c.127-15C>A http://identifiers.org/clinvar/331492 ^@ NM_004543.4(NEB):c.7342C>T (p.Arg2448Cys) http://identifiers.org/clinvar/297557 ^@ NM_003035.2(STIL):c.2087A>T (p.Asn696Ile) http://identifiers.org/clinvar/297875 ^@ NM_002633.2(PGM1):c.696T>C (p.Tyr232=) http://identifiers.org/clinvar/331493 ^@ NM_004543.4(NEB):c.7228-5C>T http://identifiers.org/clinvar/297877 ^@ NM_002633.2(PGM1):c.783C>T (p.His261=) http://identifiers.org/clinvar/297881 ^@ NM_002633.2(PGM1):c.1143C>T (p.Thr381=) http://identifiers.org/clinvar/297883 ^@ NM_002633.2(PGM1):c.1145-7C>G http://identifiers.org/clinvar/297563 ^@ NM_003035.2(STIL):c.1005A>G (p.Glu335=) http://identifiers.org/clinvar/297572 ^@ NM_003035.2(STIL):c.-121C>T http://identifiers.org/clinvar/297888 ^@ NM_002633.2(PGM1):c.1400C>A (p.Thr467Asn) http://identifiers.org/clinvar/297890 ^@ NM_002633.2(PGM1):c.1464+14G>T http://identifiers.org/clinvar/332263 ^@ NM_025000.3(DCAF17):c.214C>T (p.Arg72Trp) http://identifiers.org/clinvar/332269 ^@ NM_025000.3(DCAF17):c.1030T>C (p.Trp344Arg) http://identifiers.org/clinvar/331495 ^@ NM_004543.4(NEB):c.6817A>G (p.Lys2273Glu) http://identifiers.org/clinvar/332274 ^@ NM_025000.3(DCAF17):c.*48A>T http://identifiers.org/clinvar/332277 ^@ NM_025000.3(DCAF17):c.*188T>A http://identifiers.org/clinvar/297573 ^@ NM_003035.2(STIL):c.-121C>G http://identifiers.org/clinvar/297575 ^@ NM_004153.3(ORC1):c.*226G>C http://identifiers.org/clinvar/331496 ^@ NM_004543.4(NEB):c.6513T>C (p.Asp2171=) http://identifiers.org/clinvar/332286 ^@ NM_025000.3(DCAF17):c.*1258dupT http://identifiers.org/clinvar/331501 ^@ NM_004543.4(NEB):c.5854A>G (p.Met1952Val) http://identifiers.org/clinvar/297585 ^@ NM_004153.3(ORC1):c.1139G>T (p.Arg380Leu) http://identifiers.org/clinvar/332289 ^@ NM_025000.3(DCAF17):c.*1565delT http://identifiers.org/clinvar/331502 ^@ NM_004543.4(NEB):c.5849A>G (p.Lys1950Arg) http://identifiers.org/clinvar/332290 ^@ NM_025000.3(DCAF17):c.*1747C>A http://identifiers.org/clinvar/332291 ^@ NM_025000.3(DCAF17):c.*1841G>T http://identifiers.org/clinvar/331506 ^@ NM_004543.4(NEB):c.5224C>T (p.Leu1742=) http://identifiers.org/clinvar/332296 ^@ NM_025000.3(DCAF17):c.*2312G>A http://identifiers.org/clinvar/331507 ^@ NM_004543.4(NEB):c.5181C>T (p.Tyr1727=) http://identifiers.org/clinvar/331508 ^@ NM_004543.4(NEB):c.4980C>T (p.Pro1660=) http://identifiers.org/clinvar/331523 ^@ NM_004543.4(NEB):c.2957A>G (p.Gln986Arg) http://identifiers.org/clinvar/331524 ^@ NM_004543.4(NEB):c.2823G>A (p.Ala941=) http://identifiers.org/clinvar/332313 ^@ NM_025000.3(DCAF17):c.*3703A>G http://identifiers.org/clinvar/331531 ^@ NM_004543.4(NEB):c.1953G>A (p.Glu651=) http://identifiers.org/clinvar/331534 ^@ NM_004543.4(NEB):c.1257+13A>T http://identifiers.org/clinvar/331536 ^@ NM_004543.4(NEB):c.1119G>A (p.Arg373=) http://identifiers.org/clinvar/297590 ^@ NM_004153.3(ORC1):c.-199C>G http://identifiers.org/clinvar/331538 ^@ NM_004543.4(NEB):c.984C>T (p.Thr328=) http://identifiers.org/clinvar/331540 ^@ NM_004543.4(NEB):c.585C>G (p.Ala195=) http://identifiers.org/clinvar/331544 ^@ NM_004543.4(NEB):c.13G>A (p.Glu5Lys) http://identifiers.org/clinvar/332314 ^@ NM_025000.3(DCAF17):c.*3705A>G http://identifiers.org/clinvar/297891 ^@ NM_002633.2(PGM1):c.1500C>T (p.Ile500=) http://identifiers.org/clinvar/332318 ^@ NM_025000.3(DCAF17):c.*3880G>T http://identifiers.org/clinvar/297898 ^@ NM_002633.2(PGM1):c.*130C>T http://identifiers.org/clinvar/297911 ^@ NM_020631.4(PLEKHG5):c.*1289C>G http://identifiers.org/clinvar/297915 ^@ NM_020631.4(PLEKHG5):c.*1006C>T http://identifiers.org/clinvar/297925 ^@ NM_020631.4(PLEKHG5):c.*697C>T http://identifiers.org/clinvar/297928 ^@ NM_020631.4(PLEKHG5):c.*290T>C http://identifiers.org/clinvar/331553 ^@ NM_000726.4(CACNB4):c.*5622C>T http://identifiers.org/clinvar/297591 ^@ NM_000098.2(CPT2):c.-477C>T http://identifiers.org/clinvar/297929 ^@ NM_020631.4(PLEKHG5):c.*192G>A http://identifiers.org/clinvar/297598 ^@ NM_000098.2(CPT2):c.-216A>G http://identifiers.org/clinvar/297607 ^@ NM_000098.2(CPT2):c.1335C>T (p.Cys445=) http://identifiers.org/clinvar/297933 ^@ NM_020631.4(PLEKHG5):c.2952C>T (p.Thr984=) http://identifiers.org/clinvar/331554 ^@ NM_000726.4(CACNB4):c.*5562A>G http://identifiers.org/clinvar/297937 ^@ NM_020631.4(PLEKHG5):c.2634C>T (p.Ser878=) http://identifiers.org/clinvar/332320 ^@ NM_003705.4(SLC25A12):c.*1281G>A http://identifiers.org/clinvar/297939 ^@ NM_020631.4(PLEKHG5):c.2582G>A (p.Arg861His) http://identifiers.org/clinvar/297608 ^@ NM_000098.2(CPT2):c.1508G>A (p.Arg503His) http://identifiers.org/clinvar/297609 ^@ NM_000098.2(CPT2):c.1578T>C (p.Gly526=) http://identifiers.org/clinvar/297611 ^@ NM_000098.2(CPT2):c.*600_*601insAAG http://identifiers.org/clinvar/297618 ^@ NM_014762.3(DHCR24):c.*2245A>T http://identifiers.org/clinvar/297620 ^@ NM_014762.3(DHCR24):c.*2080C>T http://identifiers.org/clinvar/332324 ^@ NM_003705.4(SLC25A12):c.*995G>A http://identifiers.org/clinvar/297940 ^@ NM_020631.4(PLEKHG5):c.2543G>A (p.Arg848Gln) http://identifiers.org/clinvar/331560 ^@ NM_000726.4(CACNB4):c.*5122C>T http://identifiers.org/clinvar/332329 ^@ NM_003705.4(SLC25A12):c.*739G>C http://identifiers.org/clinvar/297941 ^@ NM_020631.4(PLEKHG5):c.2485G>T (p.Asp829Tyr) http://identifiers.org/clinvar/332336 ^@ NM_003705.4(SLC25A12):c.1665G>A (p.Thr555=) http://identifiers.org/clinvar/332340 ^@ NM_003705.4(SLC25A12):c.1338A>C (p.Pro446=) http://identifiers.org/clinvar/331563 ^@ NM_000726.4(CACNB4):c.*4976T>C http://identifiers.org/clinvar/331572 ^@ NM_000726.4(CACNB4):c.*4131A>G http://identifiers.org/clinvar/297942 ^@ NM_020631.4(PLEKHG5):c.2457C>T (p.Tyr819=) http://identifiers.org/clinvar/297950 ^@ NM_020631.4(PLEKHG5):c.2163_2168dupGGAGGA (p.Glu723_Gly724insGluGlu) http://identifiers.org/clinvar/297960 ^@ NM_020631.4(PLEKHG5):c.1179G>A (p.Leu393=) http://identifiers.org/clinvar/297963 ^@ NM_020631.4(PLEKHG5):c.882C>T (p.Phe294=) http://identifiers.org/clinvar/297621 ^@ NM_014762.3(DHCR24):c.*1965C>A http://identifiers.org/clinvar/297967 ^@ NM_020631.4(PLEKHG5):c.795+8G>A http://identifiers.org/clinvar/331576 ^@ NM_000726.4(CACNB4):c.*3668T>C http://identifiers.org/clinvar/332346 ^@ NM_003705.4(SLC25A12):c.99T>C (p.Tyr33=) http://identifiers.org/clinvar/297968 ^@ NM_020631.4(PLEKHG5):c.620C>T (p.Ser207Leu) http://identifiers.org/clinvar/332347 ^@ NM_003705.4(SLC25A12):c.13G>A (p.Val5Met) http://identifiers.org/clinvar/297623 ^@ NM_014762.3(DHCR24):c.*1824T>G http://identifiers.org/clinvar/297624 ^@ NM_014762.3(DHCR24):c.*1677T>C http://identifiers.org/clinvar/297625 ^@ NM_014762.3(DHCR24):c.*1584T>C http://identifiers.org/clinvar/297969 ^@ NM_020631.4(PLEKHG5):c.571C>T (p.Arg191Trp) http://identifiers.org/clinvar/332358 ^@ NM_000210.3(ITGA6):c.388-13C>A http://identifiers.org/clinvar/297972 ^@ NM_020631.4(PLEKHG5):c.495G>A (p.Lys165=) http://identifiers.org/clinvar/332361 ^@ NM_000210.3(ITGA6):c.1374A>G (p.Ser458=) http://identifiers.org/clinvar/331579 ^@ NM_000726.4(CACNB4):c.*3157T>A http://identifiers.org/clinvar/331582 ^@ NM_000726.4(CACNB4):c.*2837A>G http://identifiers.org/clinvar/331583 ^@ NM_000726.4(CACNB4):c.*2778A>C http://identifiers.org/clinvar/331584 ^@ NM_000726.4(CACNB4):c.*2729G>A http://identifiers.org/clinvar/331587 ^@ NM_000726.4(CACNB4):c.*2391T>G http://identifiers.org/clinvar/297974 ^@ NM_020631.4(PLEKHG5):c.430C>T (p.Arg144Cys) http://identifiers.org/clinvar/297978 ^@ NM_020631.4(PLEKHG5):c.33T>C (p.Leu11=) http://identifiers.org/clinvar/331590 ^@ NM_000726.4(CACNB4):c.*2188T>G http://identifiers.org/clinvar/331592 ^@ NM_000726.4(CACNB4):c.*1952C>A http://identifiers.org/clinvar/332362 ^@ NM_000210.3(ITGA6):c.1388+8A>T http://identifiers.org/clinvar/332367 ^@ NM_000210.3(ITGA6):c.1969A>G (p.Ile657Val) http://identifiers.org/clinvar/297982 ^@ NM_002303.5(LEPR):c.-122T>C http://identifiers.org/clinvar/297984 ^@ NM_002303.5(LEPR):c.-92C>T http://identifiers.org/clinvar/297988 ^@ NM_002303.5(LEPR):c.666C>G (p.Phe222Leu) http://identifiers.org/clinvar/297627 ^@ NM_014762.3(DHCR24):c.*1488C>T http://identifiers.org/clinvar/297641 ^@ NM_014762.3(DHCR24):c.*462G>A http://identifiers.org/clinvar/332370 ^@ NM_000210.3(ITGA6):c.2109G>A (p.Thr703=) http://identifiers.org/clinvar/332384 ^@ NM_000210.3(ITGA6):c.2861C>T (p.Ser954Leu) http://identifiers.org/clinvar/297647 ^@ NM_014762.3(DHCR24):c.*225T>C http://identifiers.org/clinvar/297666 ^@ NM_014762.3(DHCR24):c.-27G>T http://identifiers.org/clinvar/297667 ^@ NM_014762.3(DHCR24):c.-42A>G http://identifiers.org/clinvar/297671 ^@ NM_057176.2(BSND):c.-175C>T http://identifiers.org/clinvar/332392 ^@ NM_000210.3(ITGA6):c.*204_*205insT http://identifiers.org/clinvar/332395 ^@ NM_000210.3(ITGA6):c.*435A>G http://identifiers.org/clinvar/297672 ^@ NM_057176.2(BSND):c.-156G>C http://identifiers.org/clinvar/297675 ^@ NM_057176.2(BSND):c.-34G>A http://identifiers.org/clinvar/332398 ^@ NM_000210.3(ITGA6):c.*678T>C http://identifiers.org/clinvar/297681 ^@ NM_057176.2(BSND):c.*24A>C http://identifiers.org/clinvar/297686 ^@ NM_174936.3(PCSK9):c.-237T>G http://identifiers.org/clinvar/331598 ^@ NM_000726.4(CACNB4):c.*1826A>G http://identifiers.org/clinvar/332404 ^@ NM_000210.3(ITGA6):c.*867T>C http://identifiers.org/clinvar/297693 ^@ NM_174936.3(PCSK9):c.168C>T (p.Pro56=) http://identifiers.org/clinvar/331599 ^@ NM_000726.4(CACNB4):c.*1814G>A http://identifiers.org/clinvar/331601 ^@ NM_000726.4(CACNB4):c.*1785G>A http://identifiers.org/clinvar/331607 ^@ NM_000726.4(CACNB4):c.*1459T>C http://identifiers.org/clinvar/297699 ^@ NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) http://identifiers.org/clinvar/297991 ^@ NM_002303.5(LEPR):c.1029T>C (p.Ser343=) http://identifiers.org/clinvar/297704 ^@ NM_174936.3(PCSK9):c.1954A>G (p.Asn652Asp) http://identifiers.org/clinvar/331610 ^@ NM_000726.4(CACNB4):c.*1185T>C http://identifiers.org/clinvar/298000 ^@ NM_002303.5(LEPR):c.3057G>A (p.Pro1019=) http://identifiers.org/clinvar/332418 ^@ NM_000210.3(ITGA6):c.*1901dupA http://identifiers.org/clinvar/331617 ^@ NM_000726.4(CACNB4):c.*787delC http://identifiers.org/clinvar/298007 ^@ NM_002303.5(LEPR):c.*201C>T http://identifiers.org/clinvar/298012 ^@ NM_000329.2(RPE65):c.*735delA http://identifiers.org/clinvar/297705 ^@ NM_174936.3(PCSK9):c.1976G>T (p.Arg659Leu) http://identifiers.org/clinvar/332424 ^@ NM_000210.3(ITGA6):c.*2349T>C http://identifiers.org/clinvar/331618 ^@ NM_000726.4(CACNB4):c.*737C>T http://identifiers.org/clinvar/332426 ^@ NM_000210.3(ITGA6):c.*2374T>C http://identifiers.org/clinvar/332437 ^@ NM_000079.3(CHRNA1):c.1293C>T (p.Leu431=) http://identifiers.org/clinvar/298013 ^@ NM_000329.2(RPE65):c.*611G>A http://identifiers.org/clinvar/298014 ^@ NM_000329.2(RPE65):c.*588C>A http://identifiers.org/clinvar/332440 ^@ NM_000079.3(CHRNA1):c.1233G>T (p.Glu411Asp) http://identifiers.org/clinvar/298021 ^@ NM_000329.2(RPE65):c.975T>G (p.Ile325Met) http://identifiers.org/clinvar/297706 ^@ NM_174936.3(PCSK9):c.1978G>A (p.Asp660Asn) http://identifiers.org/clinvar/297707 ^@ NM_174936.3(PCSK9):c.2002A>G (p.Ser668Gly) http://identifiers.org/clinvar/298022 ^@ NM_000329.2(RPE65):c.845A>G (p.Asn282Ser) http://identifiers.org/clinvar/332443 ^@ NM_000079.3(CHRNA1):c.779-12_779-11delTG http://identifiers.org/clinvar/332467 ^@ NM_001822.5(CHN1):c.628-15C>T http://identifiers.org/clinvar/298023 ^@ NM_000329.2(RPE65):c.683A>C (p.Gln228Pro) http://identifiers.org/clinvar/298028 ^@ NM_001902.5(CTH):c.-3A>G http://identifiers.org/clinvar/298029 ^@ NM_001902.5(CTH):c.346+7G>A http://identifiers.org/clinvar/297714 ^@ NM_174936.3(PCSK9):c.*122C>T http://identifiers.org/clinvar/297719 ^@ NM_174936.3(PCSK9):c.*234C>T http://identifiers.org/clinvar/297720 ^@ NM_174936.3(PCSK9):c.*274C>A http://identifiers.org/clinvar/297722 ^@ NM_174936.3(PCSK9):c.*404G>A http://identifiers.org/clinvar/297724 ^@ NM_174936.3(PCSK9):c.*414C>T http://identifiers.org/clinvar/297726 ^@ NM_174936.3(PCSK9):c.*448dupG http://identifiers.org/clinvar/297735 ^@ NM_174936.3(PCSK9):c.*614C>T http://identifiers.org/clinvar/297737 ^@ NM_174936.3(PCSK9):c.*785C>A http://identifiers.org/clinvar/297748 ^@ NM_174936.3(PCSK9):c.*1255_*1258delAAAC http://identifiers.org/clinvar/297761 ^@ NM_002353.2(TACSTD2):c.*94G>A http://identifiers.org/clinvar/332475 ^@ NM_001822.5(CHN1):c.-271T>C http://identifiers.org/clinvar/297762 ^@ NM_002353.2(TACSTD2):c.*59A>C http://identifiers.org/clinvar/297763 ^@ NM_002353.2(TACSTD2):c.*48G>A http://identifiers.org/clinvar/297765 ^@ NM_002353.2(TACSTD2):c.828C>T (p.Gly276=) http://identifiers.org/clinvar/331622 ^@ NM_000726.4(CACNB4):c.*528A>T http://identifiers.org/clinvar/331624 ^@ NM_000726.4(CACNB4):c.*454delA http://identifiers.org/clinvar/331625 ^@ NM_000726.4(CACNB4):c.*442_*443delGA http://identifiers.org/clinvar/331627 ^@ NM_000726.4(CACNB4):c.*442G>A http://identifiers.org/clinvar/331629 ^@ NM_000726.4(CACNB4):c.*151delA http://identifiers.org/clinvar/331633 ^@ NM_000726.4(CACNB4):c.337G>T (p.Val113Phe) http://identifiers.org/clinvar/331636 ^@ NM_000726.4(CACNB4):c.64-4C>T http://identifiers.org/clinvar/332480 ^@ NM_002148.3(HOXD10):c.372T>G (p.Ile124Met) http://identifiers.org/clinvar/332481 ^@ NM_002148.3(HOXD10):c.420C>G (p.Pro140=) http://identifiers.org/clinvar/297771 ^@ NM_002353.2(TACSTD2):c.257C>G (p.Ala86Gly) http://identifiers.org/clinvar/297773 ^@ NM_002353.2(TACSTD2):c.-1C>A http://identifiers.org/clinvar/331637 ^@ NM_000726.4(CACNB4):c.-57G>T http://identifiers.org/clinvar/297779 ^@ NM_002353.2(TACSTD2):c.-269G>C http://identifiers.org/clinvar/331645 ^@ NM_000547.5(TPO):c.*115G>T http://identifiers.org/clinvar/331647 ^@ NM_000547.5(TPO):c.*144T>C http://identifiers.org/clinvar/298032 ^@ NM_001902.5(CTH):c.495G>T (p.Lys165Asn) http://identifiers.org/clinvar/332484 ^@ NM_002148.3(HOXD10):c.561G>A (p.Lys187=) http://identifiers.org/clinvar/332487 ^@ NM_002148.3(HOXD10):c.786T>A (p.Thr262=) http://identifiers.org/clinvar/298033 ^@ NM_001902.5(CTH):c.541G>A (p.Asp181Asn) http://identifiers.org/clinvar/298041 ^@ NM_001902.5(CTH):c.*98G>A http://identifiers.org/clinvar/298043 ^@ NM_001902.5(CTH):c.*334T>A http://identifiers.org/clinvar/331655 ^@ NM_006186.3(NR4A2):c.*331T>G http://identifiers.org/clinvar/332489 ^@ NM_002148.3(HOXD10):c.998T>C (p.Leu333Pro) http://identifiers.org/clinvar/332495 ^@ NM_002148.3(HOXD10):c.*223_*234dupTATATATATATA http://identifiers.org/clinvar/331664 ^@ NM_006186.3(NR4A2):c.-144G>A http://identifiers.org/clinvar/331666 ^@ NM_006186.3(NR4A2):c.-223C>T http://identifiers.org/clinvar/331677 ^@ NM_001105.4(ACVR1):c.*500G>A http://identifiers.org/clinvar/331682 ^@ NM_001105.4(ACVR1):c.*210A>C http://identifiers.org/clinvar/297781 ^@ NM_015102.4(NPHP4):c.*314T>G http://identifiers.org/clinvar/331686 ^@ NM_001105.4(ACVR1):c.*47C>T http://identifiers.org/clinvar/331692 ^@ NM_001105.4(ACVR1):c.820C>T (p.His274Tyr) http://identifiers.org/clinvar/332504 ^@ NM_002148.3(HOXD10):c.*279G>A http://identifiers.org/clinvar/297789 ^@ NM_015102.4(NPHP4):c.3723C>T (p.Val1241=) http://identifiers.org/clinvar/332509 ^@ NM_003659.3(AGPS):c.35G>A (p.Gly12Asp) http://identifiers.org/clinvar/297792 ^@ NM_015102.4(NPHP4):c.3645-15C>T http://identifiers.org/clinvar/297793 ^@ NM_015102.4(NPHP4):c.3612G>A (p.Pro1204=) http://identifiers.org/clinvar/297794 ^@ NM_015102.4(NPHP4):c.3518G>A (p.Arg1173His) http://identifiers.org/clinvar/331703 ^@ NM_001105.4(ACVR1):c.-196A>G http://identifiers.org/clinvar/331705 ^@ NM_021007.2(SCN2A):c.-328C>T http://identifiers.org/clinvar/297795 ^@ NM_015102.4(NPHP4):c.3231+5G>A http://identifiers.org/clinvar/332510 ^@ NM_003659.3(AGPS):c.65C>G (p.Ala22Gly) http://identifiers.org/clinvar/297797 ^@ NM_015102.4(NPHP4):c.3073G>C (p.Asp1025His) http://identifiers.org/clinvar/297805 ^@ NM_015102.4(NPHP4):c.2531C>T (p.Pro844Leu) http://identifiers.org/clinvar/297811 ^@ NM_015102.4(NPHP4):c.2115T>C (p.Pro705=) http://identifiers.org/clinvar/332513 ^@ NM_003659.3(AGPS):c.108G>A (p.Arg36=) http://identifiers.org/clinvar/332517 ^@ NM_003659.3(AGPS):c.870+4T>A http://identifiers.org/clinvar/332520 ^@ NM_003659.3(AGPS):c.1233+14T>A http://identifiers.org/clinvar/298045 ^@ NM_001902.5(CTH):c.*371G>A http://identifiers.org/clinvar/331708 ^@ NM_021007.2(SCN2A):c.-149delA http://identifiers.org/clinvar/331713 ^@ NM_021007.2(SCN2A):c.-148G>A http://identifiers.org/clinvar/332526 ^@ NM_003659.3(AGPS):c.*165T>A http://identifiers.org/clinvar/298052 ^@ NM_001902.5(CTH):c.*587G>A http://identifiers.org/clinvar/332527 ^@ NM_003659.3(AGPS):c.*206T>C http://identifiers.org/clinvar/298053 ^@ NM_001902.5(CTH):c.*592C>T http://identifiers.org/clinvar/297813 ^@ NM_015102.4(NPHP4):c.1955+7C>A http://identifiers.org/clinvar/297815 ^@ NM_015102.4(NPHP4):c.1874C>T (p.Pro625Leu) http://identifiers.org/clinvar/331711 ^@ NM_021007.2(SCN2A):c.-148_-147delGA http://identifiers.org/clinvar/297816 ^@ NM_015102.4(NPHP4):c.1764-5C>T http://identifiers.org/clinvar/297817 ^@ NM_015102.4(NPHP4):c.1668C>T (p.Thr556=) http://identifiers.org/clinvar/331715 ^@ NM_021007.2(SCN2A):c.-147_-146insAA http://identifiers.org/clinvar/331722 ^@ NM_021007.2(SCN2A):c.-147_-146insGATT http://identifiers.org/clinvar/332528 ^@ NM_003659.3(AGPS):c.*377C>G http://identifiers.org/clinvar/332533 ^@ NM_003659.3(AGPS):c.*513T>C http://identifiers.org/clinvar/332539 ^@ NM_003659.3(AGPS):c.*921A>G http://identifiers.org/clinvar/332544 ^@ NM_003659.3(AGPS):c.*1364A>G http://identifiers.org/clinvar/298054 ^@ NM_001902.5(CTH):c.*630G>A http://identifiers.org/clinvar/298055 ^@ NM_001902.5(CTH):c.*631C>T http://identifiers.org/clinvar/298057 ^@ NM_000016.5(ACADM):c.-403C>T http://identifiers.org/clinvar/298058 ^@ NM_000016.5(ACADM):c.-401G>A http://identifiers.org/clinvar/332546 ^@ NM_003659.3(AGPS):c.*1701T>C http://identifiers.org/clinvar/332548 ^@ NM_003659.3(AGPS):c.*1811_*1812insAAAA http://identifiers.org/clinvar/298064 ^@ NM_000016.5(ACADM):c.-169C>T http://identifiers.org/clinvar/298070 ^@ NM_000016.5(ACADM):c.287-10G>C http://identifiers.org/clinvar/331729 ^@ NM_021007.2(SCN2A):c.2157A>G (p.Glu719=) http://identifiers.org/clinvar/332549 ^@ NM_003659.3(AGPS):c.*1814_*1815insAGAA http://identifiers.org/clinvar/298071 ^@ NM_000016.5(ACADM):c.624T>C (p.Asp208=) http://identifiers.org/clinvar/332552 ^@ NM_003659.3(AGPS):c.*1858_*1859delAT http://identifiers.org/clinvar/297819 ^@ NM_015102.4(NPHP4):c.1503+10G>A http://identifiers.org/clinvar/332554 ^@ NM_003659.3(AGPS):c.*1862_*1863delAT http://identifiers.org/clinvar/297820 ^@ NM_015102.4(NPHP4):c.1462C>T (p.Arg488Ter) http://identifiers.org/clinvar/331732 ^@ NM_021007.2(SCN2A):c.3521-15T>C http://identifiers.org/clinvar/331745 ^@ NM_021007.2(SCN2A):c.*291G>T http://identifiers.org/clinvar/332559 ^@ NM_003659.3(AGPS):c.*1866A>G http://identifiers.org/clinvar/331746 ^@ NM_021007.2(SCN2A):c.*417C>T http://identifiers.org/clinvar/331747 ^@ NM_021007.2(SCN2A):c.*535A>T http://identifiers.org/clinvar/331750 ^@ NM_021007.2(SCN2A):c.*853C>T http://identifiers.org/clinvar/298072 ^@ NM_000016.5(ACADM):c.994C>T (p.Leu332=) http://identifiers.org/clinvar/332566 ^@ NM_003659.3(AGPS):c.*1884A>G http://identifiers.org/clinvar/297828 ^@ NM_015102.4(NPHP4):c.820C>G (p.Pro274Ala) http://identifiers.org/clinvar/331753 ^@ NM_021007.2(SCN2A):c.*1433A>G http://identifiers.org/clinvar/332565 ^@ NM_003659.3(AGPS):c.*1894_*1899delATATAT http://identifiers.org/clinvar/332564 ^@ NM_003659.3(AGPS):c.*1896_*1899delATAT http://identifiers.org/clinvar/332563 ^@ NM_003659.3(AGPS):c.*1898_*1899dupAT http://identifiers.org/clinvar/331754 ^@ NM_021007.2(SCN2A):c.*1474G>A http://identifiers.org/clinvar/331755 ^@ NM_021007.2(SCN2A):c.*1507T>G http://identifiers.org/clinvar/331756 ^@ NM_021007.2(SCN2A):c.*1713G>A http://identifiers.org/clinvar/297831 ^@ NM_015102.4(NPHP4):c.136-12G>C http://identifiers.org/clinvar/332567 ^@ NM_003659.3(AGPS):c.*2088T>G http://identifiers.org/clinvar/332571 ^@ NM_003659.3(AGPS):c.*2487C>T http://identifiers.org/clinvar/298075 ^@ NM_000016.5(ACADM):c.*133T>C http://identifiers.org/clinvar/298083 ^@ NM_144573.3(NEXN):c.-230A>C http://identifiers.org/clinvar/298094 ^@ NM_144573.3(NEXN):c.*209A>G http://identifiers.org/clinvar/297833 ^@ NM_015102.4(NPHP4):c.-52G>T http://identifiers.org/clinvar/297834 ^@ NM_015102.4(NPHP4):c.-90A>T http://identifiers.org/clinvar/297839 ^@ NM_015102.4(NPHP4):c.-236C>T http://identifiers.org/clinvar/297840 ^@ NM_015102.4(NPHP4):c.-237G>C http://identifiers.org/clinvar/297841 ^@ NM_013339.3(ALG6):c.-221C>G http://identifiers.org/clinvar/331757 ^@ NM_021007.2(SCN2A):c.*1753C>T http://identifiers.org/clinvar/297854 ^@ NM_013339.3(ALG6):c.*174A>G http://identifiers.org/clinvar/298103 ^@ NM_144573.3(NEXN):c.*418A>C http://identifiers.org/clinvar/331759 ^@ NM_021007.2(SCN2A):c.*1778A>C http://identifiers.org/clinvar/331760 ^@ NM_021007.2(SCN2A):c.*1825A>G http://identifiers.org/clinvar/331766 ^@ NM_021007.2(SCN2A):c.*2423A>G http://identifiers.org/clinvar/331768 ^@ NM_021007.2(SCN2A):c.*2454C>T http://identifiers.org/clinvar/331769 ^@ NM_004482.3(GALNT3):c.*937C>T http://identifiers.org/clinvar/331770 ^@ NM_004482.3(GALNT3):c.*934dupT http://identifiers.org/clinvar/297857 ^@ NM_013339.3(ALG6):c.*705delA http://identifiers.org/clinvar/331771 ^@ NM_004482.3(GALNT3):c.*897T>C http://identifiers.org/clinvar/331772 ^@ NM_004482.3(GALNT3):c.*870A>T http://identifiers.org/clinvar/332572 ^@ NM_003659.3(AGPS):c.*2548A>G http://identifiers.org/clinvar/331773 ^@ NM_004482.3(GALNT3):c.*783A>G http://identifiers.org/clinvar/331777 ^@ NM_004482.3(GALNT3):c.*318T>G http://identifiers.org/clinvar/331783 ^@ NM_004482.3(GALNT3):c.718G>C (p.Val240Leu) http://identifiers.org/clinvar/331791 ^@ NM_004482.3(GALNT3):c.-246A>C http://identifiers.org/clinvar/331792 ^@ NM_004482.3(GALNT3):c.-252C>T http://identifiers.org/clinvar/331802 ^@ NM_024753.4(TTC21B):c.*847A>C http://identifiers.org/clinvar/332573 ^@ NM_003659.3(AGPS):c.*2582C>T http://identifiers.org/clinvar/332575 ^@ NM_003659.3(AGPS):c.*2636G>C http://identifiers.org/clinvar/331807 ^@ NM_024753.4(TTC21B):c.*593G>A http://identifiers.org/clinvar/298107 ^@ NM_144573.3(NEXN):c.*759T>A http://identifiers.org/clinvar/298112 ^@ NM_007262.4(PARK7):c.-127G>C http://identifiers.org/clinvar/331808 ^@ NM_024753.4(TTC21B):c.*544A>G http://identifiers.org/clinvar/298117 ^@ NM_007262.4(PARK7):c.-22C>T http://identifiers.org/clinvar/298119 ^@ NM_007262.4(PARK7):c.73G>A (p.Val25Ile) http://identifiers.org/clinvar/331809 ^@ NM_024753.4(TTC21B):c.*540T>C http://identifiers.org/clinvar/332576 ^@ NM_003659.3(AGPS):c.*2667G>C http://identifiers.org/clinvar/332578 ^@ NM_003659.3(AGPS):c.*3045C>T http://identifiers.org/clinvar/332592 ^@ NM_003659.3(AGPS):c.*4253C>A http://identifiers.org/clinvar/298121 ^@ NM_007262.4(PARK7):c.234C>T (p.Gly78=) http://identifiers.org/clinvar/297859 ^@ NM_013339.3(ALG6):c.*795_*799delTATAT http://identifiers.org/clinvar/297863 ^@ NM_013339.3(ALG6):c.*1004C>A http://identifiers.org/clinvar/298128 ^@ NM_053274.2(GLMN):c.1474-15_1474-12delTTTC http://identifiers.org/clinvar/297865 ^@ NM_013339.3(ALG6):c.*1137G>A http://identifiers.org/clinvar/297874 ^@ NM_002633.2(PGM1):c.661C>T (p.Arg221Cys) http://identifiers.org/clinvar/331817 ^@ NM_024753.4(TTC21B):c.*246G>A http://identifiers.org/clinvar/298131 ^@ NM_053274.2(GLMN):c.1159A>G (p.Met387Val) http://identifiers.org/clinvar/332596 ^@ NM_003659.3(AGPS):c.*4821C>T http://identifiers.org/clinvar/332601 ^@ NM_003659.3(AGPS):c.*5023C>A http://identifiers.org/clinvar/298133 ^@ NM_053274.2(GLMN):c.1022A>G (p.Asn341Ser) http://identifiers.org/clinvar/298137 ^@ NM_053274.2(GLMN):c.977+7T>A http://identifiers.org/clinvar/331819 ^@ NM_024753.4(TTC21B):c.3914A>G (p.Asp1305Gly) http://identifiers.org/clinvar/297880 ^@ NM_002633.2(PGM1):c.1028+11C>A http://identifiers.org/clinvar/297887 ^@ NM_002633.2(PGM1):c.1336G>A (p.Glu446Lys) http://identifiers.org/clinvar/298140 ^@ NM_053274.2(GLMN):c.761C>G (p.Pro254Arg) http://identifiers.org/clinvar/332602 ^@ NM_003659.3(AGPS):c.*5026C>T http://identifiers.org/clinvar/332604 ^@ NM_003659.3(AGPS):c.*5124C>T http://identifiers.org/clinvar/297896 ^@ NM_002633.2(PGM1):c.*72A>G http://identifiers.org/clinvar/332608 ^@ NM_003659.3(AGPS):c.*5465C>T http://identifiers.org/clinvar/331825 ^@ NM_024753.4(TTC21B):c.2777G>A (p.Arg926Gln) http://identifiers.org/clinvar/332610 ^@ NM_003659.3(AGPS):c.*5609G>A http://identifiers.org/clinvar/298141 ^@ NM_053274.2(GLMN):c.581A>G (p.Asn194Ser) http://identifiers.org/clinvar/332628 ^@ NM_003690.4(PRKRA):c.397-3T>C http://identifiers.org/clinvar/332633 ^@ NM_003690.4(PRKRA):c.32C>T (p.Pro11Leu) http://identifiers.org/clinvar/297900 ^@ NM_002633.2(PGM1):c.*231C>T http://identifiers.org/clinvar/297902 ^@ NM_002633.2(PGM1):c.*348G>A http://identifiers.org/clinvar/332635 ^@ NM_003690.4(PRKRA):c.1A>C (p.Met1Leu) http://identifiers.org/clinvar/297907 ^@ NM_020631.4(PLEKHG5):c.*1354T>C http://identifiers.org/clinvar/297912 ^@ NM_020631.4(PLEKHG5):c.*1158G>C http://identifiers.org/clinvar/297914 ^@ NM_020631.4(PLEKHG5):c.*1016A>G http://identifiers.org/clinvar/332637 ^@ NM_003690.4(PRKRA):c.-24G>A http://identifiers.org/clinvar/297916 ^@ NM_020631.4(PLEKHG5):c.*990C>T http://identifiers.org/clinvar/332639 ^@ NM_003690.4(PRKRA):c.-104G>A http://identifiers.org/clinvar/297918 ^@ NM_020631.4(PLEKHG5):c.*905G>A http://identifiers.org/clinvar/297919 ^@ NM_020631.4(PLEKHG5):c.*843G>T http://identifiers.org/clinvar/297923 ^@ NM_020631.4(PLEKHG5):c.*765T>A http://identifiers.org/clinvar/331836 ^@ NM_024753.4(TTC21B):c.1448C>A (p.Thr483Asn) http://identifiers.org/clinvar/298143 ^@ NM_053274.2(GLMN):c.526T>C (p.Cys176Arg) http://identifiers.org/clinvar/298146 ^@ NM_053274.2(GLMN):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/331843 ^@ NM_024753.4(TTC21B):c.19A>G (p.Lys7Glu) http://identifiers.org/clinvar/331844 ^@ NM_024753.4(TTC21B):c.14A>C (p.Glu5Ala) http://identifiers.org/clinvar/298154 ^@ NM_053274.2(GLMN):c.-85G>T http://identifiers.org/clinvar/298159 ^@ NM_005263.3(GFI1):c.*1094G>A http://identifiers.org/clinvar/297922 ^@ NM_020631.4(PLEKHG5):c.*765delT http://identifiers.org/clinvar/298161 ^@ NM_005263.3(GFI1):c.*992A>G http://identifiers.org/clinvar/332642 ^@ NM_003690.4(PRKRA):c.-149T>C http://identifiers.org/clinvar/331850 ^@ NM_024753.4(TTC21B):c.-82C>G http://identifiers.org/clinvar/332643 ^@ NM_003690.4(PRKRA):c.-174A>C http://identifiers.org/clinvar/331852 ^@ NM_024753.4(TTC21B):c.-91T>C http://identifiers.org/clinvar/331858 ^@ NM_001165963.1(SCN1A):c.*1950G>A http://identifiers.org/clinvar/297924 ^@ NM_020631.4(PLEKHG5):c.*750delC http://identifiers.org/clinvar/297931 ^@ NM_020631.4(PLEKHG5):c.*68C>T http://identifiers.org/clinvar/332646 ^@ NM_001042702.3(DFNB59):c.-303G>A http://identifiers.org/clinvar/332650 ^@ NM_001042702.3(DFNB59):c.-201C>G http://identifiers.org/clinvar/297936 ^@ NM_020631.4(PLEKHG5):c.2691C>T (p.Ala897=) http://identifiers.org/clinvar/298163 ^@ NM_005263.3(GFI1):c.*885G>A http://identifiers.org/clinvar/298164 ^@ NM_005263.3(GFI1):c.*881G>A http://identifiers.org/clinvar/297938 ^@ NM_020631.4(PLEKHG5):c.2612C>T (p.Pro871Leu) http://identifiers.org/clinvar/331865 ^@ NM_001165963.1(SCN1A):c.*1482G>A http://identifiers.org/clinvar/331866 ^@ NM_001165963.1(SCN1A):c.*1224G>A http://identifiers.org/clinvar/331883 ^@ NM_001165963.1(SCN1A):c.4551A>G (p.Lys1517=) http://identifiers.org/clinvar/331894 ^@ NM_001165963.1(SCN1A):c.565C>G (p.Pro189Ala) http://identifiers.org/clinvar/332653 ^@ NM_001042702.3(DFNB59):c.-82C>T http://identifiers.org/clinvar/298168 ^@ NM_005263.3(GFI1):c.*632C>G http://identifiers.org/clinvar/332654 ^@ NM_001042702.3(DFNB59):c.-73C>T http://identifiers.org/clinvar/298172 ^@ NM_005263.3(GFI1):c.*378C>G http://identifiers.org/clinvar/298173 ^@ NM_005263.3(GFI1):c.*315A>G http://identifiers.org/clinvar/331895 ^@ NM_002977.3(SCN9A):c.*3426A>T http://identifiers.org/clinvar/332656 ^@ NM_001042702.3(DFNB59):c.-49G>T http://identifiers.org/clinvar/331900 ^@ NM_002977.3(SCN9A):c.*2986T>G http://identifiers.org/clinvar/331903 ^@ NM_002977.3(SCN9A):c.*2854T>C http://identifiers.org/clinvar/331906 ^@ NM_002977.3(SCN9A):c.*2662G>A http://identifiers.org/clinvar/298175 ^@ NM_005263.3(GFI1):c.*229T>C http://identifiers.org/clinvar/298186 ^@ NM_005263.3(GFI1):c.925-14_925-5delCTCTCTCTCT http://identifiers.org/clinvar/298181 ^@ NM_005263.3(GFI1):c.925-18_925-5dupCTCTCTCTCTCTCT http://identifiers.org/clinvar/332663 ^@ NM_133378.4(TTN):c.*968T>C http://identifiers.org/clinvar/332677 ^@ NM_133378.4(TTN):c.*6C>A http://identifiers.org/clinvar/331911 ^@ NM_002977.3(SCN9A):c.*2323G>T http://identifiers.org/clinvar/332682 ^@ NM_133378.4(TTN):c.98362G>A (p.Glu32788Lys) http://identifiers.org/clinvar/332689 ^@ NM_133378.4(TTN):c.97232G>A (p.Gly32411Asp) http://identifiers.org/clinvar/331913 ^@ NM_002977.3(SCN9A):c.*2297A>T http://identifiers.org/clinvar/332696 ^@ NM_133378.4(TTN):c.96220_96222delCCT (p.Pro32074del) http://identifiers.org/clinvar/332697 ^@ NM_133378.4(TTN):c.95280C>T (p.Asp31760=) http://identifiers.org/clinvar/331919 ^@ NM_002977.3(SCN9A):c.*2155G>A http://identifiers.org/clinvar/331924 ^@ NM_002977.3(SCN9A):c.*1960_*1962dupTTG http://identifiers.org/clinvar/298187 ^@ NM_005263.3(GFI1):c.925-7_925-6insTTCTCT http://identifiers.org/clinvar/297943 ^@ NM_020631.4(PLEKHG5):c.2427C>T (p.Asp809=) http://identifiers.org/clinvar/331926 ^@ NM_002977.3(SCN9A):c.*1774G>A http://identifiers.org/clinvar/297944 ^@ NM_020631.4(PLEKHG5):c.2420C>T (p.Pro807Leu) http://identifiers.org/clinvar/332711 ^@ NM_133378.4(TTN):c.91285+12A>C http://identifiers.org/clinvar/332712 ^@ NM_133378.4(TTN):c.90820G>T (p.Ala30274Ser) http://identifiers.org/clinvar/297957 ^@ NM_020631.4(PLEKHG5):c.1514C>T (p.Pro505Leu) http://identifiers.org/clinvar/298188 ^@ NM_005263.3(GFI1):c.792C>T (p.Phe264=) http://identifiers.org/clinvar/298194 ^@ NM_005263.3(GFI1):c.-174C>T http://identifiers.org/clinvar/298200 ^@ NM_000969.3(RPL5):c.-52C>G http://identifiers.org/clinvar/298202 ^@ NM_000969.3(RPL5):c.-46C>G http://identifiers.org/clinvar/297989 ^@ NM_002303.5(LEPR):c.716C>T (p.Pro239Leu) http://identifiers.org/clinvar/298205 ^@ NM_000969.3(RPL5):c.-18C>A http://identifiers.org/clinvar/332720 ^@ NM_133378.4(TTN):c.88326A>G (p.Glu29442=) http://identifiers.org/clinvar/332722 ^@ NM_133378.4(TTN):c.87492G>A (p.Pro29164=) http://identifiers.org/clinvar/332723 ^@ NM_133378.4(TTN):c.87459A>G (p.Thr29153=) http://identifiers.org/clinvar/332730 ^@ NM_133378.4(TTN):c.84167T>C (p.Val28056Ala) http://identifiers.org/clinvar/297994 ^@ NM_002303.5(LEPR):c.1411C>A (p.Leu471Ile) http://identifiers.org/clinvar/332733 ^@ NM_133378.4(TTN):c.82540A>G (p.Ile27514Val) http://identifiers.org/clinvar/331928 ^@ NM_002977.3(SCN9A):c.*1660G>A http://identifiers.org/clinvar/331929 ^@ NM_002977.3(SCN9A):c.*1605_*1606delTA http://identifiers.org/clinvar/332734 ^@ NM_133378.4(TTN):c.82220C>T (p.Ala27407Val) http://identifiers.org/clinvar/332735 ^@ NM_133378.4(TTN):c.81775C>G (p.Pro27259Ala) http://identifiers.org/clinvar/331934 ^@ NM_002977.3(SCN9A):c.*1357C>T http://identifiers.org/clinvar/331937 ^@ NM_002977.3(SCN9A):c.*1014G>A http://identifiers.org/clinvar/332743 ^@ NM_133378.4(TTN):c.78954G>A (p.Glu26318=) http://identifiers.org/clinvar/332746 ^@ NM_133378.4(TTN):c.77758G>A (p.Val25920Ile) http://identifiers.org/clinvar/298209 ^@ NM_000969.3(RPL5):c.202C>T (p.Arg68Cys) http://identifiers.org/clinvar/332748 ^@ NM_133378.4(TTN):c.76739C>G (p.Ala25580Gly) http://identifiers.org/clinvar/332749 ^@ NM_133378.4(TTN):c.76701T>C (p.Tyr25567=) http://identifiers.org/clinvar/298211 ^@ NM_000969.3(RPL5):c.403A>G (p.Ile135Val) http://identifiers.org/clinvar/297996 ^@ NM_002303.5(LEPR):c.2397T>G (p.Asp799Glu) http://identifiers.org/clinvar/298214 ^@ NM_000969.3(RPL5):c.846A>G (p.Gln282=) http://identifiers.org/clinvar/332752 ^@ NM_133378.4(TTN):c.76123G>A (p.Gly25375Arg) http://identifiers.org/clinvar/298216 ^@ NM_000350.2(ABCA4):c.*299G>C http://identifiers.org/clinvar/297998 ^@ NM_002303.5(LEPR):c.2970C>G (p.Ile990Met) http://identifiers.org/clinvar/331938 ^@ NM_002977.3(SCN9A):c.*1013C>T http://identifiers.org/clinvar/332755 ^@ NM_133378.4(TTN):c.75577G>C (p.Val25193Leu) http://identifiers.org/clinvar/298004 ^@ NM_002303.5(LEPR):c.*60_*61insCTTTA http://identifiers.org/clinvar/298222 ^@ NM_000350.2(ABCA4):c.6416G>C (p.Arg2139Pro) http://identifiers.org/clinvar/298011 ^@ NM_000329.2(RPE65):c.*760A>C http://identifiers.org/clinvar/298020 ^@ NM_000329.2(RPE65):c.1194C>T (p.Asp398=) http://identifiers.org/clinvar/332762 ^@ NM_133378.4(TTN):c.73513C>T (p.Pro24505Ser) http://identifiers.org/clinvar/332767 ^@ NM_133378.4(TTN):c.72780C>G (p.Ser24260Arg) http://identifiers.org/clinvar/332775 ^@ NM_133378.4(TTN):c.69857C>T (p.Thr23286Ile) http://identifiers.org/clinvar/332781 ^@ NM_133378.4(TTN):c.67490A>G (p.His22497Arg) http://identifiers.org/clinvar/332784 ^@ NM_133378.4(TTN):c.66072G>A (p.Arg22024=) http://identifiers.org/clinvar/331939 ^@ NM_002977.3(SCN9A):c.*958C>T http://identifiers.org/clinvar/332787 ^@ NM_133378.4(TTN):c.64462C>A (p.Arg21488Ser) http://identifiers.org/clinvar/332789 ^@ NM_133378.4(TTN):c.64129T>C (p.Trp21377Arg) http://identifiers.org/clinvar/331941 ^@ NM_002977.3(SCN9A):c.*920T>A http://identifiers.org/clinvar/331942 ^@ NM_002977.3(SCN9A):c.*798dupA http://identifiers.org/clinvar/331946 ^@ NM_002977.3(SCN9A):c.*529_*530delCT http://identifiers.org/clinvar/298225 ^@ NM_000350.2(ABCA4):c.5712A>G (p.Gln1904=) http://identifiers.org/clinvar/298226 ^@ NM_000350.2(ABCA4):c.5610C>A (p.Phe1870Leu) http://identifiers.org/clinvar/332798 ^@ NM_133378.4(TTN):c.60152G>A (p.Gly20051Glu) http://identifiers.org/clinvar/332801 ^@ NM_133378.4(TTN):c.59068C>T (p.Pro19690Ser) http://identifiers.org/clinvar/298030 ^@ NM_001902.5(CTH):c.381A>G (p.Glu127=) http://identifiers.org/clinvar/298236 ^@ NM_000350.2(ABCA4):c.4573C>T (p.Leu1525=) http://identifiers.org/clinvar/298243 ^@ NM_000350.2(ABCA4):c.3977C>G (p.Ala1326Gly) http://identifiers.org/clinvar/331947 ^@ NM_002977.3(SCN9A):c.*491delT http://identifiers.org/clinvar/331955 ^@ NM_002977.3(SCN9A):c.*204G>A http://identifiers.org/clinvar/332803 ^@ NM_133378.4(TTN):c.57929G>C (p.Gly19310Ala) http://identifiers.org/clinvar/332809 ^@ NM_133378.4(TTN):c.57261C>G (p.Phe19087Leu) http://identifiers.org/clinvar/332811 ^@ NM_133378.4(TTN):c.56415A>C (p.Leu18805Phe) http://identifiers.org/clinvar/298039 ^@ NM_001902.5(CTH):c.1191+38_1191+43dupGTGTGT http://identifiers.org/clinvar/298047 ^@ NM_001902.5(CTH):c.*522_*523insTAA http://identifiers.org/clinvar/332813 ^@ NM_133378.4(TTN):c.55583T>A (p.Ile18528Asn) http://identifiers.org/clinvar/332814 ^@ NM_133378.4(TTN):c.54969T>C (p.Asp18323=) http://identifiers.org/clinvar/298050 ^@ NM_001902.5(CTH):c.*544G>A http://identifiers.org/clinvar/332816 ^@ NM_133378.4(TTN):c.54307G>A (p.Glu18103Lys) http://identifiers.org/clinvar/332817 ^@ NM_133378.4(TTN):c.53666A>C (p.Glu17889Ala) http://identifiers.org/clinvar/298062 ^@ NM_000016.5(ACADM):c.-304A>G http://identifiers.org/clinvar/298063 ^@ NM_000016.5(ACADM):c.-257G>A http://identifiers.org/clinvar/298244 ^@ NM_000350.2(ABCA4):c.3947A>C (p.Asp1316Ala) http://identifiers.org/clinvar/298250 ^@ NM_000350.2(ABCA4):c.3547G>T (p.Gly1183Cys) http://identifiers.org/clinvar/298066 ^@ NM_000016.5(ACADM):c.-92A>G http://identifiers.org/clinvar/298067 ^@ NM_000016.5(ACADM):c.-50A>T http://identifiers.org/clinvar/298074 ^@ NM_000016.5(ACADM):c.*63dupA http://identifiers.org/clinvar/298253 ^@ NM_000350.2(ABCA4):c.3063T>G (p.Ala1021=) http://identifiers.org/clinvar/298076 ^@ NM_000016.5(ACADM):c.*284C>T http://identifiers.org/clinvar/298077 ^@ NM_000016.5(ACADM):c.*317C>T http://identifiers.org/clinvar/298079 ^@ NM_000016.5(ACADM):c.*773G>A http://identifiers.org/clinvar/298259 ^@ NM_000350.2(ABCA4):c.1493A>G (p.Asp498Gly) http://identifiers.org/clinvar/298262 ^@ NM_000350.2(ABCA4):c.1319A>G (p.Tyr440Cys) http://identifiers.org/clinvar/298080 ^@ NM_000016.5(ACADM):c.*825delA http://identifiers.org/clinvar/331956 ^@ NM_002977.3(SCN9A):c.*165_*167dupATG http://identifiers.org/clinvar/332820 ^@ NM_133378.4(TTN):c.52639G>A (p.Asp17547Asn) http://identifiers.org/clinvar/298084 ^@ NM_144573.3(NEXN):c.-197_-195dupGGC http://identifiers.org/clinvar/298088 ^@ NM_144573.3(NEXN):c.671G>A (p.Cys224Tyr) http://identifiers.org/clinvar/331959 ^@ NM_002977.3(SCN9A):c.*124A>G http://identifiers.org/clinvar/298263 ^@ NM_000350.2(ABCA4):c.1240-8G>C http://identifiers.org/clinvar/298267 ^@ NM_000350.2(ABCA4):c.468C>T (p.Ile156=) http://identifiers.org/clinvar/298272 ^@ NM_000110.3(DPYD):c.*783G>T http://identifiers.org/clinvar/298092 ^@ NM_144573.3(NEXN):c.*6_*7delCT http://identifiers.org/clinvar/332821 ^@ NM_133378.4(TTN):c.52352_52354delAAG (p.Glu17451del) http://identifiers.org/clinvar/332822 ^@ NM_133378.4(TTN):c.52208C>T (p.Ala17403Val) http://identifiers.org/clinvar/332824 ^@ NM_133378.4(TTN):c.51280A>G (p.Ile17094Val) http://identifiers.org/clinvar/298276 ^@ NM_000110.3(DPYD):c.*282A>G http://identifiers.org/clinvar/331966 ^@ NM_002977.3(SCN9A):c.3892-13T>C http://identifiers.org/clinvar/331970 ^@ NM_002977.3(SCN9A):c.3439+14T>C http://identifiers.org/clinvar/331971 ^@ NM_002977.3(SCN9A):c.3335G>A (p.Ser1112Asn) http://identifiers.org/clinvar/332833 ^@ NM_133378.4(TTN):c.46745G>A (p.Ser15582Asn) http://identifiers.org/clinvar/331973 ^@ NM_002977.3(SCN9A):c.3232G>A (p.Val1078Met) http://identifiers.org/clinvar/331975 ^@ NM_002977.3(SCN9A):c.2883T>C (p.Ser961=) http://identifiers.org/clinvar/298102 ^@ NM_144573.3(NEXN):c.*417_*418insC http://identifiers.org/clinvar/298109 ^@ NM_144573.3(NEXN):c.*899G>A http://identifiers.org/clinvar/298111 ^@ NM_007262.4(PARK7):c.-137G>A http://identifiers.org/clinvar/298113 ^@ NM_007262.4(PARK7):c.-99T>C http://identifiers.org/clinvar/298115 ^@ NM_007262.4(PARK7):c.-70C>T http://identifiers.org/clinvar/298120 ^@ NM_007262.4(PARK7):c.223G>A (p.Gly75Ser) http://identifiers.org/clinvar/298123 ^@ NM_007262.4(PARK7):c.500C>G (p.Ala167Gly) http://identifiers.org/clinvar/298124 ^@ NM_007262.4(PARK7):c.*125G>A http://identifiers.org/clinvar/332835 ^@ NM_133378.4(TTN):c.46177+4C>A http://identifiers.org/clinvar/332839 ^@ NM_133378.4(TTN):c.45396T>C (p.Pro15132=) http://identifiers.org/clinvar/331976 ^@ NM_002977.3(SCN9A):c.2842-5delT http://identifiers.org/clinvar/331979 ^@ NM_002977.3(SCN9A):c.2819T>C (p.Val940Ala) http://identifiers.org/clinvar/298132 ^@ NM_053274.2(GLMN):c.1057T>C (p.Tyr353His) http://identifiers.org/clinvar/298134 ^@ NM_053274.2(GLMN):c.1007T>C (p.Leu336Ser) http://identifiers.org/clinvar/298136 ^@ NM_053274.2(GLMN):c.977+9G>A http://identifiers.org/clinvar/332840 ^@ NM_133378.4(TTN):c.44822G>A (p.Arg14941His) http://identifiers.org/clinvar/332841 ^@ NM_133378.4(TTN):c.44730T>G (p.Ile14910Met) http://identifiers.org/clinvar/332842 ^@ NM_133378.4(TTN):c.44724G>A (p.Lys14908=) http://identifiers.org/clinvar/298139 ^@ NM_053274.2(GLMN):c.765C>T (p.Phe255=) http://identifiers.org/clinvar/298145 ^@ NM_053274.2(GLMN):c.437C>T (p.Ala146Val) http://identifiers.org/clinvar/332846 ^@ NM_133378.4(TTN):c.43823G>C (p.Gly14608Ala) http://identifiers.org/clinvar/298148 ^@ NM_053274.2(GLMN):c.165+10A>G http://identifiers.org/clinvar/331980 ^@ NM_002977.3(SCN9A):c.2484+6C>T http://identifiers.org/clinvar/331985 ^@ NM_002977.3(SCN9A):c.1838C>T (p.Pro613Leu) http://identifiers.org/clinvar/331986 ^@ NM_002977.3(SCN9A):c.1793G>A (p.Arg598His) http://identifiers.org/clinvar/298279 ^@ NM_000110.3(DPYD):c.*193A>C http://identifiers.org/clinvar/298280 ^@ NM_000110.3(DPYD):c.2758A>C (p.Thr920Pro) http://identifiers.org/clinvar/298149 ^@ NM_053274.2(GLMN):c.144T>G (p.Ile48Met) http://identifiers.org/clinvar/298150 ^@ NM_053274.2(GLMN):c.40-6dupT http://identifiers.org/clinvar/332853 ^@ NM_133378.4(TTN):c.39980T>C (p.Ile13327Thr) http://identifiers.org/clinvar/298295 ^@ NM_000110.3(DPYD):c.1340-14A>C http://identifiers.org/clinvar/332854 ^@ NM_133378.4(TTN):c.39866T>C (p.Ile13289Thr) http://identifiers.org/clinvar/332857 ^@ NM_133378.4(TTN):c.39096A>G (p.Glu13032=) http://identifiers.org/clinvar/298297 ^@ NM_000110.3(DPYD):c.1048T>C (p.Ser350Pro) http://identifiers.org/clinvar/332866 ^@ NM_133378.4(TTN):c.36987G>A (p.Lys12329=) http://identifiers.org/clinvar/298155 ^@ NM_005263.3(GFI1):c.*1239T>C http://identifiers.org/clinvar/332868 ^@ NM_133378.4(TTN):c.36815T>A (p.Phe12272Tyr) http://identifiers.org/clinvar/332872 ^@ NM_133378.4(TTN):c.34552T>A (p.Ser11518Thr) http://identifiers.org/clinvar/298156 ^@ NM_005263.3(GFI1):c.*1233G>A http://identifiers.org/clinvar/298170 ^@ NM_005263.3(GFI1):c.*574G>T http://identifiers.org/clinvar/298176 ^@ NM_005263.3(GFI1):c.*215G>A http://identifiers.org/clinvar/298185 ^@ NM_005263.3(GFI1):c.925-10_925-5delCTCTCT http://identifiers.org/clinvar/331987 ^@ NM_002977.3(SCN9A):c.1713C>T (p.Ala571=) http://identifiers.org/clinvar/331988 ^@ NM_002977.3(SCN9A):c.1619G>A (p.Arg540His) http://identifiers.org/clinvar/331992 ^@ NM_002977.3(SCN9A):c.1208T>C (p.Met403Thr) http://identifiers.org/clinvar/332002 ^@ NM_002977.3(SCN9A):c.-126G>C http://identifiers.org/clinvar/332874 ^@ NM_133378.4(TTN):c.33082+3G>A http://identifiers.org/clinvar/298303 ^@ NM_000110.3(DPYD):c.-112A>G http://identifiers.org/clinvar/332010 ^@ NM_003742.2(ABCB11):c.*533C>A http://identifiers.org/clinvar/332875 ^@ NM_133378.4(TTN):c.32997G>A (p.Arg10999=) http://identifiers.org/clinvar/332011 ^@ NM_003742.2(ABCB11):c.*509C>T http://identifiers.org/clinvar/332015 ^@ NM_003742.2(ABCB11):c.*281T>G http://identifiers.org/clinvar/332018 ^@ NM_003742.2(ABCB11):c.*236A>G http://identifiers.org/clinvar/332025 ^@ NM_003742.2(ABCB11):c.2800G>A (p.Glu934Lys) http://identifiers.org/clinvar/291320 ^@ NM_000642.2(AGL):c.-208C>T http://identifiers.org/clinvar/291322 ^@ NM_000642.2(AGL):c.82+4A>C http://identifiers.org/clinvar/298180 ^@ NM_005263.3(GFI1):c.925-12_925-5dupCTCTCTCT http://identifiers.org/clinvar/298193 ^@ NM_005263.3(GFI1):c.-99-7C>G http://identifiers.org/clinvar/298196 ^@ NM_000969.3(RPL5):c.-70T>A http://identifiers.org/clinvar/332878 ^@ NM_133378.4(TTN):c.31788G>A (p.Ala10596=) http://identifiers.org/clinvar/298198 ^@ NM_000969.3(RPL5):c.-58G>T http://identifiers.org/clinvar/298201 ^@ NM_000969.3(RPL5):c.-48G>A http://identifiers.org/clinvar/332880 ^@ NM_133378.4(TTN):c.30560-15A>G http://identifiers.org/clinvar/332883 ^@ NM_133378.4(TTN):c.30408A>G (p.Glu10136=) http://identifiers.org/clinvar/332886 ^@ NM_133378.4(TTN):c.30022C>T (p.Pro10008Ser) http://identifiers.org/clinvar/298204 ^@ NM_000969.3(RPL5):c.-38C>T http://identifiers.org/clinvar/332896 ^@ NM_133378.4(TTN):c.27209T>C (p.Ile9070Thr) http://identifiers.org/clinvar/332898 ^@ NM_133378.4(TTN):c.26950+7T>C http://identifiers.org/clinvar/298213 ^@ NM_000969.3(RPL5):c.794+121G>A http://identifiers.org/clinvar/332900 ^@ NM_133378.4(TTN):c.26498C>T (p.Pro8833Leu) http://identifiers.org/clinvar/332031 ^@ NM_003742.2(ABCB11):c.2016A>T (p.Ala672=) http://identifiers.org/clinvar/291331 ^@ NM_000642.2(AGL):c.1284-12A>C http://identifiers.org/clinvar/291335 ^@ NM_000642.2(AGL):c.1979A>C (p.Tyr660Ser) http://identifiers.org/clinvar/332033 ^@ NM_003742.2(ABCB11):c.1638+6C>G http://identifiers.org/clinvar/298215 ^@ NM_000350.2(ABCA4):c.*372A>G http://identifiers.org/clinvar/332035 ^@ NM_003742.2(ABCB11):c.1124A>G (p.Asn375Ser) http://identifiers.org/clinvar/298217 ^@ NM_000350.2(ABCA4):c.*147C>T http://identifiers.org/clinvar/332901 ^@ NM_133378.4(TTN):c.25585G>A (p.Ala8529Thr) http://identifiers.org/clinvar/332910 ^@ NM_133378.4(TTN):c.21789A>G (p.Val7263=) http://identifiers.org/clinvar/298219 ^@ NM_000350.2(ABCA4):c.*134G>A http://identifiers.org/clinvar/298224 ^@ NM_000350.2(ABCA4):c.5953C>T (p.Leu1985Phe) http://identifiers.org/clinvar/291340 ^@ NM_000642.2(AGL):c.3231G>A (p.Lys1077=) http://identifiers.org/clinvar/332917 ^@ NM_133378.4(TTN):c.17040G>T (p.Lys5680Asn) http://identifiers.org/clinvar/332919 ^@ NM_133378.4(TTN):c.16594G>A (p.Ala5532Thr) http://identifiers.org/clinvar/291345 ^@ NM_000642.2(AGL):c.4162-11G>A http://identifiers.org/clinvar/291347 ^@ NM_000642.2(AGL):c.4348-3dupT http://identifiers.org/clinvar/291352 ^@ NM_000642.2(AGL):c.*292A>G http://identifiers.org/clinvar/298227 ^@ NM_000350.2(ABCA4):c.5460+6C>T http://identifiers.org/clinvar/298229 ^@ NM_000350.2(ABCA4):c.5197-4C>T http://identifiers.org/clinvar/332922 ^@ NM_133378.4(TTN):c.14761A>G (p.Ile4921Val) http://identifiers.org/clinvar/298231 ^@ NM_000350.2(ABCA4):c.4945C>T (p.Pro1649Ser) http://identifiers.org/clinvar/291353 ^@ NM_000642.2(AGL):c.*395C>T http://identifiers.org/clinvar/332923 ^@ NM_133378.4(TTN):c.13202C>T (p.Pro4401Leu) http://identifiers.org/clinvar/332930 ^@ NM_133378.4(TTN):c.12324T>C (p.Asp4108=) http://identifiers.org/clinvar/291354 ^@ NM_000642.2(AGL):c.*562delT http://identifiers.org/clinvar/332037 ^@ NM_003742.2(ABCB11):c.810G>A (p.Glu270=) http://identifiers.org/clinvar/332932 ^@ NM_133378.4(TTN):c.11721T>C (p.Asn3907=) http://identifiers.org/clinvar/332044 ^@ NM_004525.2(LRP2):c.*1187T>A http://identifiers.org/clinvar/291355 ^@ NM_000642.2(AGL):c.*564T>C http://identifiers.org/clinvar/332934 ^@ NM_133378.4(TTN):c.11241T>C (p.Tyr3747=) http://identifiers.org/clinvar/332045 ^@ NM_004525.2(LRP2):c.*1130_*1131insT http://identifiers.org/clinvar/332046 ^@ NM_004525.2(LRP2):c.*1129dupT http://identifiers.org/clinvar/332051 ^@ NM_004525.2(LRP2):c.*962T>A http://identifiers.org/clinvar/298237 ^@ NM_000350.2(ABCA4):c.4532C>T (p.Pro1511Leu) http://identifiers.org/clinvar/332053 ^@ NM_004525.2(LRP2):c.*909_*910dupAA http://identifiers.org/clinvar/332940 ^@ NM_133378.4(TTN):c.10000G>A (p.Val3334Met) http://identifiers.org/clinvar/332945 ^@ NM_133378.4(TTN):c.7781T>C (p.Met2594Thr) http://identifiers.org/clinvar/332056 ^@ NM_004525.2(LRP2):c.*824G>T http://identifiers.org/clinvar/332951 ^@ NM_133378.4(TTN):c.6517T>G (p.Leu2173Val) http://identifiers.org/clinvar/291357 ^@ NM_000642.2(AGL):c.*670A>G http://identifiers.org/clinvar/298242 ^@ NM_000350.2(ABCA4):c.4050G>C (p.Leu1350=) http://identifiers.org/clinvar/298247 ^@ NM_000350.2(ABCA4):c.3670T>G (p.Cys1224Gly) http://identifiers.org/clinvar/332961 ^@ NM_133378.4(TTN):c.3242C>T (p.Ala1081Val) http://identifiers.org/clinvar/332962 ^@ NM_133378.4(TTN):c.3197A>T (p.Asp1066Val) http://identifiers.org/clinvar/291362 ^@ NM_000642.2(AGL):c.*832G>A http://identifiers.org/clinvar/332965 ^@ NM_133378.4(TTN):c.2758C>T (p.His920Tyr) http://identifiers.org/clinvar/291371 ^@ NM_000642.2(AGL):c.*1952C>T http://identifiers.org/clinvar/330616 ^@ NM_003597.4(KLF11):c.-146C>T http://identifiers.org/clinvar/332967 ^@ NM_133378.4(TTN):c.2138G>A (p.Arg713Gln) http://identifiers.org/clinvar/332058 ^@ NM_004525.2(LRP2):c.*544T>C http://identifiers.org/clinvar/332974 ^@ NM_133378.4(TTN):c.-108G>A http://identifiers.org/clinvar/332059 ^@ NM_004525.2(LRP2):c.*481A>G http://identifiers.org/clinvar/298249 ^@ NM_000350.2(ABCA4):c.3586A>T (p.Thr1196Ser) http://identifiers.org/clinvar/332976 ^@ NM_133378.4(TTN):c.-217G>A http://identifiers.org/clinvar/330617 ^@ NM_003597.4(KLF11):c.-104C>T http://identifiers.org/clinvar/298258 ^@ NM_000350.2(ABCA4):c.1522C>T (p.Arg508Cys) http://identifiers.org/clinvar/298264 ^@ NM_000350.2(ABCA4):c.1155C>T (p.Ile385=) http://identifiers.org/clinvar/332977 ^@ NM_133378.4(TTN):c.-225G>A http://identifiers.org/clinvar/332979 ^@ NM_201548.4(CERKL):c.*1345G>A http://identifiers.org/clinvar/298266 ^@ NM_000350.2(ABCA4):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/298269 ^@ NM_000350.2(ABCA4):c.-92C>T http://identifiers.org/clinvar/298270 ^@ NM_000110.3(DPYD):c.*1046C>A http://identifiers.org/clinvar/298271 ^@ NM_000110.3(DPYD):c.*852C>T http://identifiers.org/clinvar/332985 ^@ NM_201548.4(CERKL):c.*954C>A http://identifiers.org/clinvar/298273 ^@ NM_000110.3(DPYD):c.*665G>A http://identifiers.org/clinvar/332986 ^@ NM_201548.4(CERKL):c.*915C>G http://identifiers.org/clinvar/332995 ^@ NM_201548.4(CERKL):c.*452G>A http://identifiers.org/clinvar/298275 ^@ NM_000110.3(DPYD):c.*432T>A http://identifiers.org/clinvar/332061 ^@ NM_004525.2(LRP2):c.*378C>T http://identifiers.org/clinvar/330620 ^@ NM_003597.4(KLF11):c.-31G>A http://identifiers.org/clinvar/330625 ^@ NM_003597.4(KLF11):c.305C>G (p.Ser102Trp) http://identifiers.org/clinvar/332063 ^@ NM_004525.2(LRP2):c.*253T>C http://identifiers.org/clinvar/332996 ^@ NM_201548.4(CERKL):c.*420G>A http://identifiers.org/clinvar/332064 ^@ NM_004525.2(LRP2):c.*158T>C http://identifiers.org/clinvar/330632 ^@ NM_003597.4(KLF11):c.928T>C (p.Ser310Pro) http://identifiers.org/clinvar/330634 ^@ NM_003597.4(KLF11):c.1046C>T (p.Pro349Leu) http://identifiers.org/clinvar/332068 ^@ NM_004525.2(LRP2):c.13803G>A (p.Met4601Ile) http://identifiers.org/clinvar/298277 ^@ NM_000110.3(DPYD):c.*274T>C http://identifiers.org/clinvar/332071 ^@ NM_004525.2(LRP2):c.13422G>A (p.Gly4474=) http://identifiers.org/clinvar/332078 ^@ NM_004525.2(LRP2):c.12756C>T (p.Asp4252=) http://identifiers.org/clinvar/332082 ^@ NM_004525.2(LRP2):c.12462-13C>T http://identifiers.org/clinvar/333006 ^@ NM_201548.4(CERKL):c.1073+11T>C http://identifiers.org/clinvar/332083 ^@ NM_004525.2(LRP2):c.12453G>C (p.Trp4151Cys) http://identifiers.org/clinvar/330639 ^@ NM_003597.4(KLF11):c.1169G>A (p.Arg390Gln) http://identifiers.org/clinvar/333017 ^@ NM_201548.4(CERKL):c.-63C>T http://identifiers.org/clinvar/333018 ^@ NM_002500.4(NEUROD1):c.*1595G>A http://identifiers.org/clinvar/333027 ^@ NM_002500.4(NEUROD1):c.*674_*677dupAAAA http://identifiers.org/clinvar/330646 ^@ NM_003597.4(KLF11):c.*194G>A http://identifiers.org/clinvar/330647 ^@ NM_003597.4(KLF11):c.*216_*217insTT http://identifiers.org/clinvar/332085 ^@ NM_004525.2(LRP2):c.12287T>C (p.Ile4096Thr) http://identifiers.org/clinvar/333035 ^@ NM_002500.4(NEUROD1):c.*78C>T http://identifiers.org/clinvar/332093 ^@ NM_004525.2(LRP2):c.11322G>A (p.Ser3774=) http://identifiers.org/clinvar/333037 ^@ NM_002500.4(NEUROD1):c.908A>G (p.Tyr303Cys) http://identifiers.org/clinvar/332095 ^@ NM_004525.2(LRP2):c.11269C>T (p.Arg3757Trp) http://identifiers.org/clinvar/332096 ^@ NM_004525.2(LRP2):c.11264-14C>G http://identifiers.org/clinvar/332106 ^@ NM_004525.2(LRP2):c.10170-15T>G http://identifiers.org/clinvar/332107 ^@ NM_004525.2(LRP2):c.9999-6T>C http://identifiers.org/clinvar/330650 ^@ NM_003597.4(KLF11):c.*217G>T http://identifiers.org/clinvar/333044 ^@ NM_000090.3(COL3A1):c.-101G>A http://identifiers.org/clinvar/333052 ^@ NM_000090.3(COL3A1):c.898-5T>C http://identifiers.org/clinvar/330654 ^@ NM_003597.4(KLF11):c.*544C>A http://identifiers.org/clinvar/330657 ^@ NM_003597.4(KLF11):c.*756C>T http://identifiers.org/clinvar/332108 ^@ NM_004525.2(LRP2):c.9845+5G>A http://identifiers.org/clinvar/332109 ^@ NM_004525.2(LRP2):c.9683A>G (p.Asn3228Ser) http://identifiers.org/clinvar/330659 ^@ NM_003597.4(KLF11):c.*954C>G http://identifiers.org/clinvar/330660 ^@ NM_003597.4(KLF11):c.*956C>T http://identifiers.org/clinvar/332112 ^@ NM_004525.2(LRP2):c.9363C>T (p.Gly3121=) http://identifiers.org/clinvar/332113 ^@ NM_004525.2(LRP2):c.9342C>T (p.Cys3114=) http://identifiers.org/clinvar/298278 ^@ NM_000110.3(DPYD):c.*242G>A http://identifiers.org/clinvar/298283 ^@ NM_000110.3(DPYD):c.2193C>T (p.Gly731=) http://identifiers.org/clinvar/330664 ^@ NM_003597.4(KLF11):c.*1296T>C http://identifiers.org/clinvar/330670 ^@ NM_003597.4(KLF11):c.*1608T>G http://identifiers.org/clinvar/330672 ^@ NM_003597.4(KLF11):c.*1636C>T http://identifiers.org/clinvar/333053 ^@ NM_000090.3(COL3A1):c.1509+5A>G http://identifiers.org/clinvar/333058 ^@ NM_000090.3(COL3A1):c.2065G>T (p.Ala689Ser) http://identifiers.org/clinvar/333063 ^@ NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) http://identifiers.org/clinvar/332114 ^@ NM_004525.2(LRP2):c.9234C>T (p.His3078=) http://identifiers.org/clinvar/298284 ^@ NM_000110.3(DPYD):c.2186C>T (p.Ala729Val) http://identifiers.org/clinvar/298287 ^@ NM_000110.3(DPYD):c.1651G>A (p.Ala551Thr) http://identifiers.org/clinvar/332120 ^@ NM_004525.2(LRP2):c.8854G>A (p.Glu2952Lys) http://identifiers.org/clinvar/330674 ^@ NM_003597.4(KLF11):c.*1853T>C http://identifiers.org/clinvar/332122 ^@ NM_004525.2(LRP2):c.8731T>A (p.Phe2911Ile) http://identifiers.org/clinvar/333064 ^@ NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) http://identifiers.org/clinvar/333066 ^@ NM_000090.3(COL3A1):c.3576C>T (p.Ala1192=) http://identifiers.org/clinvar/332129 ^@ NM_004525.2(LRP2):c.8112C>A (p.Ser2704=) http://identifiers.org/clinvar/332131 ^@ NM_004525.2(LRP2):c.7801T>C (p.Tyr2601His) http://identifiers.org/clinvar/332139 ^@ NM_004525.2(LRP2):c.6967C>T (p.Leu2323=) http://identifiers.org/clinvar/298288 ^@ NM_000110.3(DPYD):c.1614C>T (p.Ala538=) http://identifiers.org/clinvar/332140 ^@ NM_004525.2(LRP2):c.6810G>A (p.Val2270=) http://identifiers.org/clinvar/333067 ^@ NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) http://identifiers.org/clinvar/330684 ^@ NM_022336.3(EDAR):c.*2151_*2154dupCTTA http://identifiers.org/clinvar/332141 ^@ NM_004525.2(LRP2):c.6784C>T (p.Arg2262Cys) http://identifiers.org/clinvar/332145 ^@ NM_004525.2(LRP2):c.6545G>A (p.Arg2182His) http://identifiers.org/clinvar/330689 ^@ NM_022336.3(EDAR):c.*1535C>T http://identifiers.org/clinvar/330698 ^@ NM_022336.3(EDAR):c.*895C>T http://identifiers.org/clinvar/330699 ^@ NM_022336.3(EDAR):c.*757T>C http://identifiers.org/clinvar/333072 ^@ NM_000090.3(COL3A1):c.*34T>G http://identifiers.org/clinvar/332154 ^@ NM_004525.2(LRP2):c.6040+3A>G http://identifiers.org/clinvar/298296 ^@ NM_000110.3(DPYD):c.1220A>G (p.Gln407Arg) http://identifiers.org/clinvar/332156 ^@ NM_004525.2(LRP2):c.5702C>G (p.Ala1901Gly) http://identifiers.org/clinvar/298304 ^@ NM_000110.3(DPYD):c.-122C>A http://identifiers.org/clinvar/333075 ^@ NM_000090.3(COL3A1):c.*89G>A http://identifiers.org/clinvar/291327 ^@ NM_000642.2(AGL):c.847-7T>A http://identifiers.org/clinvar/330701 ^@ NM_022336.3(EDAR):c.*602T>A http://identifiers.org/clinvar/333078 ^@ NM_000090.3(COL3A1):c.*325C>A http://identifiers.org/clinvar/333082 ^@ NM_000090.3(COL3A1):c.*406A>G http://identifiers.org/clinvar/332161 ^@ NM_004525.2(LRP2):c.5123G>A (p.Arg1708His) http://identifiers.org/clinvar/291332 ^@ NM_000642.2(AGL):c.1326A>G (p.Glu442=) http://identifiers.org/clinvar/330705 ^@ NM_022336.3(EDAR):c.1288G>A (p.Asp430Asn) http://identifiers.org/clinvar/330707 ^@ NM_022336.3(EDAR):c.844C>T (p.Arg282Trp) http://identifiers.org/clinvar/330711 ^@ NM_022336.3(EDAR):c.146C>T (p.Pro49Leu) http://identifiers.org/clinvar/332173 ^@ NM_004525.2(LRP2):c.4092T>C (p.Cys1364=) http://identifiers.org/clinvar/291334 ^@ NM_000642.2(AGL):c.1908A>G (p.Ser636=) http://identifiers.org/clinvar/291339 ^@ NM_000642.2(AGL):c.2966A>G (p.Gln989Arg) http://identifiers.org/clinvar/291344 ^@ NM_000642.2(AGL):c.3589-14T>G http://identifiers.org/clinvar/291348 ^@ NM_000642.2(AGL):c.4362T>C (p.Pro1454=) http://identifiers.org/clinvar/332174 ^@ NM_004525.2(LRP2):c.3843A>C (p.Gly1281=) http://identifiers.org/clinvar/333083 ^@ NM_000090.3(COL3A1):c.*467T>A http://identifiers.org/clinvar/333086 ^@ NM_000090.3(COL3A1):c.*625C>T http://identifiers.org/clinvar/333108 ^@ NM_000393.4(COL5A2):c.*1379A>G http://identifiers.org/clinvar/333112 ^@ NM_000393.4(COL5A2):c.*848T>C http://identifiers.org/clinvar/291349 ^@ NM_000642.2(AGL):c.*99delT http://identifiers.org/clinvar/291350 ^@ NM_000642.2(AGL):c.*105T>C http://identifiers.org/clinvar/291356 ^@ NM_000642.2(AGL):c.*575G>T http://identifiers.org/clinvar/330712 ^@ NM_022336.3(EDAR):c.68C>T (p.Ser23Leu) http://identifiers.org/clinvar/333119 ^@ NM_000393.4(COL5A2):c.*561T>C http://identifiers.org/clinvar/333121 ^@ NM_000393.4(COL5A2):c.*446G>A http://identifiers.org/clinvar/330714 ^@ NM_022336.3(EDAR):c.-30A>C http://identifiers.org/clinvar/330715 ^@ NM_022336.3(EDAR):c.-129G>T http://identifiers.org/clinvar/330719 ^@ NM_022336.3(EDAR):c.-238C>T http://identifiers.org/clinvar/291359 ^@ NM_000642.2(AGL):c.*732C>T http://identifiers.org/clinvar/330732 ^@ NM_000272.3(NPHP1):c.1333C>T (p.Arg445Cys) http://identifiers.org/clinvar/330734 ^@ NM_000272.3(NPHP1):c.969G>A (p.Thr323=) http://identifiers.org/clinvar/330737 ^@ NM_000272.3(NPHP1):c.593A>G (p.Asn198Ser) http://identifiers.org/clinvar/330739 ^@ NM_006343.2(MERTK):c.-34G>A http://identifiers.org/clinvar/330740 ^@ NM_006343.2(MERTK):c.21G>T (p.Pro7=) http://identifiers.org/clinvar/330742 ^@ NM_006343.2(MERTK):c.138C>G (p.Asp46Glu) http://identifiers.org/clinvar/333130 ^@ NM_000393.4(COL5A2):c.4333G>A (p.Val1445Ile) http://identifiers.org/clinvar/330748 ^@ NM_006343.2(MERTK):c.782G>C (p.Ser261Thr) http://identifiers.org/clinvar/330761 ^@ NM_006343.2(MERTK):c.1719A>G (p.Leu573=) http://identifiers.org/clinvar/330763 ^@ NM_006343.2(MERTK):c.1960+8C>T http://identifiers.org/clinvar/332175 ^@ NM_004525.2(LRP2):c.3734C>T (p.Pro1245Leu) http://identifiers.org/clinvar/291363 ^@ NM_000642.2(AGL):c.*1028C>T http://identifiers.org/clinvar/291364 ^@ NM_000642.2(AGL):c.*1047A>T http://identifiers.org/clinvar/333134 ^@ NM_000393.4(COL5A2):c.3614T>C (p.Val1205Ala) http://identifiers.org/clinvar/333135 ^@ NM_000393.4(COL5A2):c.3379C>T (p.Arg1127Cys) http://identifiers.org/clinvar/333136 ^@ NM_000393.4(COL5A2):c.3341G>A (p.Arg1114Gln) http://identifiers.org/clinvar/332177 ^@ NM_004525.2(LRP2):c.3667+10A>G http://identifiers.org/clinvar/291365 ^@ NM_000642.2(AGL):c.*1075T>A http://identifiers.org/clinvar/333146 ^@ NM_000393.4(COL5A2):c.906+10A>T http://identifiers.org/clinvar/333154 ^@ NM_014585.5(SLC40A1):c.*1123C>T http://identifiers.org/clinvar/291366 ^@ NM_000642.2(AGL):c.*1244T>A http://identifiers.org/clinvar/330764 ^@ NM_006343.2(MERTK):c.2028C>T (p.Tyr676=) http://identifiers.org/clinvar/332184 ^@ NM_004525.2(LRP2):c.2908+11T>C http://identifiers.org/clinvar/330631 ^@ NM_003597.4(KLF11):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/332199 ^@ NM_004525.2(LRP2):c.770-12T>C http://identifiers.org/clinvar/332201 ^@ NM_004525.2(LRP2):c.428-6delC http://identifiers.org/clinvar/333157 ^@ NM_014585.5(SLC40A1):c.*420_*421delTA http://identifiers.org/clinvar/332202 ^@ NM_004525.2(LRP2):c.428-9_428-8delTT http://identifiers.org/clinvar/333165 ^@ NM_014585.5(SLC40A1):c.1132T>C (p.Leu378=) http://identifiers.org/clinvar/332204 ^@ NM_004525.2(LRP2):c.428-10_428-8delTTT http://identifiers.org/clinvar/332206 ^@ NM_004525.2(LRP2):c.403G>A (p.Asp135Asn) http://identifiers.org/clinvar/330768 ^@ NM_006343.2(MERTK):c.2142G>C (p.Leu714=) http://identifiers.org/clinvar/330771 ^@ NM_006343.2(MERTK):c.*112G>A http://identifiers.org/clinvar/333167 ^@ NM_014585.5(SLC40A1):c.744G>T (p.Gln248His) http://identifiers.org/clinvar/330774 ^@ NM_006343.2(MERTK):c.*392delT http://identifiers.org/clinvar/330637 ^@ NM_003597.4(KLF11):c.1102C>T (p.Pro368Ser) http://identifiers.org/clinvar/330775 ^@ NM_006343.2(MERTK):c.*439A>G http://identifiers.org/clinvar/330778 ^@ NM_012275.2(IL36RN):c.30-14T>A http://identifiers.org/clinvar/332207 ^@ NM_004525.2(LRP2):c.170C>T (p.Ala57Val) http://identifiers.org/clinvar/333172 ^@ NM_014585.5(SLC40A1):c.289G>A (p.Val97Met) http://identifiers.org/clinvar/333173 ^@ NM_014585.5(SLC40A1):c.271+10_271+12delGTT http://identifiers.org/clinvar/332212 ^@ NM_000817.2(GAD1):c.-397T>G http://identifiers.org/clinvar/332215 ^@ NM_000817.2(GAD1):c.-244G>A http://identifiers.org/clinvar/332224 ^@ NM_000817.2(GAD1):c.-29A>G http://identifiers.org/clinvar/332230 ^@ NM_000817.2(GAD1):c.399T>C (p.Asp133=) http://identifiers.org/clinvar/333174 ^@ NM_014585.5(SLC40A1):c.-14G>C http://identifiers.org/clinvar/332233 ^@ NM_000817.2(GAD1):c.867+9G>A http://identifiers.org/clinvar/332235 ^@ NM_000817.2(GAD1):c.1173C>T (p.Asn391=) http://identifiers.org/clinvar/330638 ^@ NM_003597.4(KLF11):c.1137C>G (p.Ser379Arg) http://identifiers.org/clinvar/330640 ^@ NM_003597.4(KLF11):c.1448C>T (p.Pro483Leu) http://identifiers.org/clinvar/330780 ^@ NM_012275.2(IL36RN):c.363G>A (p.Leu121=) http://identifiers.org/clinvar/330783 ^@ NM_012275.2(IL36RN):c.*222T>C http://identifiers.org/clinvar/330643 ^@ NM_003597.4(KLF11):c.*131G>A http://identifiers.org/clinvar/330648 ^@ NM_003597.4(KLF11):c.*227dupT http://identifiers.org/clinvar/330666 ^@ NM_003597.4(KLF11):c.*1386A>G http://identifiers.org/clinvar/330667 ^@ NM_003597.4(KLF11):c.*1423T>C http://identifiers.org/clinvar/330668 ^@ NM_003597.4(KLF11):c.*1495G>A http://identifiers.org/clinvar/332239 ^@ NM_000817.2(GAD1):c.1450C>T (p.Leu484=) http://identifiers.org/clinvar/330785 ^@ NM_012275.2(IL36RN):c.*281G>A http://identifiers.org/clinvar/330787 ^@ NM_012275.2(IL36RN):c.*326C>A http://identifiers.org/clinvar/332240 ^@ NM_000817.2(GAD1):c.1473T>C (p.Tyr491=) http://identifiers.org/clinvar/332241 ^@ NM_000817.2(GAD1):c.1595G>A (p.Arg532Gln) http://identifiers.org/clinvar/333180 ^@ NM_014585.5(SLC40A1):c.-315_-310dupCGGCGG http://identifiers.org/clinvar/333181 ^@ NM_014585.5(SLC40A1):c.-318_-310dupCGGCGGCGG http://identifiers.org/clinvar/332247 ^@ NM_000817.2(GAD1):c.*513C>T http://identifiers.org/clinvar/332249 ^@ NM_000817.2(GAD1):c.*764G>T http://identifiers.org/clinvar/332250 ^@ NM_000817.2(GAD1):c.*803T>C http://identifiers.org/clinvar/330788 ^@ NM_012275.2(IL36RN):c.*401A>C http://identifiers.org/clinvar/330792 ^@ NM_012275.2(IL36RN):c.*560C>G http://identifiers.org/clinvar/330680 ^@ NM_003597.4(KLF11):c.*2273C>T http://identifiers.org/clinvar/330796 ^@ NM_012275.2(IL36RN):c.*863C>T http://identifiers.org/clinvar/332258 ^@ NM_025000.3(DCAF17):c.-111G>T http://identifiers.org/clinvar/330681 ^@ NM_003597.4(KLF11):c.*2274G>A http://identifiers.org/clinvar/332265 ^@ NM_025000.3(DCAF17):c.533G>A (p.Arg178Gln) http://identifiers.org/clinvar/333182 ^@ NM_014585.5(SLC40A1):c.-344C>G http://identifiers.org/clinvar/332266 ^@ NM_025000.3(DCAF17):c.579C>A (p.Phe193Leu) http://identifiers.org/clinvar/330682 ^@ NM_022336.3(EDAR):c.*2426_*2430delCATTA http://identifiers.org/clinvar/332267 ^@ NM_025000.3(DCAF17):c.792T>C (p.Thr264=) http://identifiers.org/clinvar/330803 ^@ NM_012275.2(IL36RN):c.*1540G>A http://identifiers.org/clinvar/332273 ^@ NM_025000.3(DCAF17):c.*15T>C http://identifiers.org/clinvar/333184 ^@ NM_000534.4(PMS1):c.-481G>A http://identifiers.org/clinvar/333188 ^@ NM_000534.4(PMS1):c.-275C>T http://identifiers.org/clinvar/332276 ^@ NM_025000.3(DCAF17):c.*126A>T http://identifiers.org/clinvar/332280 ^@ NM_025000.3(DCAF17):c.*570G>A http://identifiers.org/clinvar/332282 ^@ NM_025000.3(DCAF17):c.*677C>A http://identifiers.org/clinvar/330804 ^@ NM_012275.2(IL36RN):c.*1585A>G http://identifiers.org/clinvar/330812 ^@ NM_012275.2(IL36RN):c.*1902T>C http://identifiers.org/clinvar/333189 ^@ NM_000534.4(PMS1):c.-274T>A http://identifiers.org/clinvar/330817 ^@ NM_173841.2(IL1RN):c.-87G>A http://identifiers.org/clinvar/330683 ^@ NM_022336.3(EDAR):c.*2426C>T http://identifiers.org/clinvar/330818 ^@ NM_173841.2(IL1RN):c.-83G>A http://identifiers.org/clinvar/333190 ^@ NM_000534.4(PMS1):c.-266G>C http://identifiers.org/clinvar/333194 ^@ NM_000534.4(PMS1):c.-156G>A http://identifiers.org/clinvar/330686 ^@ NM_022336.3(EDAR):c.*1892_*1895delGAGT http://identifiers.org/clinvar/333198 ^@ NM_000534.4(PMS1):c.-68T>A http://identifiers.org/clinvar/332285 ^@ NM_025000.3(DCAF17):c.*1165C>G http://identifiers.org/clinvar/333202 ^@ NM_000534.4(PMS1):c.174G>T (p.Gly58=) http://identifiers.org/clinvar/333204 ^@ NM_000534.4(PMS1):c.345T>C (p.Asp115=) http://identifiers.org/clinvar/333207 ^@ NM_000534.4(PMS1):c.1201A>G (p.Lys401Glu) http://identifiers.org/clinvar/330819 ^@ NM_173841.2(IL1RN):c.-71A>G http://identifiers.org/clinvar/330820 ^@ NM_173841.2(IL1RN):c.-31A>G http://identifiers.org/clinvar/332287 ^@ NM_025000.3(DCAF17):c.*1487_*1488delAG http://identifiers.org/clinvar/332288 ^@ NM_025000.3(DCAF17):c.*1531T>C http://identifiers.org/clinvar/330688 ^@ NM_022336.3(EDAR):c.*1598T>C http://identifiers.org/clinvar/330690 ^@ NM_022336.3(EDAR):c.*1319C>G http://identifiers.org/clinvar/330826 ^@ NM_173841.2(IL1RN):c.327+12C>G http://identifiers.org/clinvar/330691 ^@ NM_022336.3(EDAR):c.*1248G>T http://identifiers.org/clinvar/330694 ^@ NM_022336.3(EDAR):c.*1129A>G http://identifiers.org/clinvar/333208 ^@ NM_000534.4(PMS1):c.1332A>G (p.Val444=) http://identifiers.org/clinvar/333214 ^@ NM_000534.4(PMS1):c.*168G>A http://identifiers.org/clinvar/332298 ^@ NM_025000.3(DCAF17):c.*2348G>A http://identifiers.org/clinvar/330833 ^@ NM_173841.2(IL1RN):c.*162C>T http://identifiers.org/clinvar/332300 ^@ NM_025000.3(DCAF17):c.*2425T>A http://identifiers.org/clinvar/332308 ^@ NM_025000.3(DCAF17):c.*2971A>G http://identifiers.org/clinvar/330709 ^@ NM_022336.3(EDAR):c.607G>A (p.Val203Ile) http://identifiers.org/clinvar/333218 ^@ NM_005259.2(MSTN):c.*1332A>G http://identifiers.org/clinvar/333234 ^@ NM_005259.2(MSTN):c.1062T>C (p.Asn354=) http://identifiers.org/clinvar/333240 ^@ NM_005259.2(MSTN):c.386T>G (p.Met129Arg) http://identifiers.org/clinvar/333241 ^@ NM_005259.2(MSTN):c.306C>T (p.Ser102=) http://identifiers.org/clinvar/332309 ^@ NM_025000.3(DCAF17):c.*2976A>G http://identifiers.org/clinvar/332321 ^@ NM_003705.4(SLC25A12):c.*1251A>G http://identifiers.org/clinvar/332330 ^@ NM_003705.4(SLC25A12):c.*694G>C http://identifiers.org/clinvar/330718 ^@ NM_022336.3(EDAR):c.-235G>A http://identifiers.org/clinvar/332333 ^@ NM_003705.4(SLC25A12):c.*72T>A http://identifiers.org/clinvar/333242 ^@ NM_005259.2(MSTN):c.263G>A (p.Arg88Gln) http://identifiers.org/clinvar/333245 ^@ NM_005259.2(MSTN):c.-41_-39delGAA http://identifiers.org/clinvar/330834 ^@ NM_173841.2(IL1RN):c.*165C>T http://identifiers.org/clinvar/330835 ^@ NM_173841.2(IL1RN):c.*245G>A http://identifiers.org/clinvar/330838 ^@ NM_173841.2(IL1RN):c.*369T>A http://identifiers.org/clinvar/330844 ^@ NM_173841.2(IL1RN):c.*958C>T http://identifiers.org/clinvar/333250 ^@ NM_007315.3(STAT1):c.*1060A>C http://identifiers.org/clinvar/332335 ^@ NM_003705.4(SLC25A12):c.1909G>A (p.Gly637Ser) http://identifiers.org/clinvar/333251 ^@ NM_007315.3(STAT1):c.*1002T>C http://identifiers.org/clinvar/332338 ^@ NM_003705.4(SLC25A12):c.1458G>A (p.Ala486=) http://identifiers.org/clinvar/332349 ^@ NM_003705.4(SLC25A12):c.-55C>T http://identifiers.org/clinvar/332350 ^@ NM_003705.4(SLC25A12):c.-57_-56dupGC http://identifiers.org/clinvar/330726 ^@ NM_000272.3(NPHP1):c.*250C>T http://identifiers.org/clinvar/333255 ^@ NM_007315.3(STAT1):c.*855G>A http://identifiers.org/clinvar/332363 ^@ NM_000210.3(ITGA6):c.1393C>T (p.Arg465Trp) http://identifiers.org/clinvar/333257 ^@ NM_007315.3(STAT1):c.*661T>C http://identifiers.org/clinvar/332365 ^@ NM_000210.3(ITGA6):c.1487+7A>G http://identifiers.org/clinvar/332368 ^@ NM_000210.3(ITGA6):c.1970+12_1970+14delTGT http://identifiers.org/clinvar/330845 ^@ NM_173841.2(IL1RN):c.*964G>A http://identifiers.org/clinvar/333261 ^@ NM_007315.3(STAT1):c.*362T>C http://identifiers.org/clinvar/332371 ^@ NM_000210.3(ITGA6):c.2136A>T (p.Ala712=) http://identifiers.org/clinvar/332373 ^@ NM_000210.3(ITGA6):c.2247C>G (p.Val749=) http://identifiers.org/clinvar/332376 ^@ NM_000210.3(ITGA6):c.2651A>G (p.Gln884Arg) http://identifiers.org/clinvar/330846 ^@ NM_173841.2(IL1RN):c.*1039C>T http://identifiers.org/clinvar/332378 ^@ NM_000210.3(ITGA6):c.2728G>A (p.Asp910Asn) http://identifiers.org/clinvar/333277 ^@ NM_007315.3(STAT1):c.1222-3T>C http://identifiers.org/clinvar/333282 ^@ NM_007315.3(STAT1):c.1097+10C>G http://identifiers.org/clinvar/332381 ^@ NM_000210.3(ITGA6):c.2819C>T (p.Pro940Leu) http://identifiers.org/clinvar/332386 ^@ NM_000210.3(ITGA6):c.2989-6C>T http://identifiers.org/clinvar/333283 ^@ NM_007315.3(STAT1):c.1090T>C (p.Phe364Leu) http://identifiers.org/clinvar/333286 ^@ NM_007315.3(STAT1):c.722G>A (p.Arg241Gln) http://identifiers.org/clinvar/333289 ^@ NM_007315.3(STAT1):c.633+6T>A http://identifiers.org/clinvar/330847 ^@ NM_173841.2(IL1RN):c.*1040G>A http://identifiers.org/clinvar/330733 ^@ NM_000272.3(NPHP1):c.988G>C (p.Gly330Arg) http://identifiers.org/clinvar/333305 ^@ NM_002156.4(HSPD1):c.*18dupT http://identifiers.org/clinvar/330848 ^@ NM_173841.2(IL1RN):c.*1049A>G http://identifiers.org/clinvar/333306 ^@ NM_002156.4(HSPD1):c.1446T>C (p.Asn482=) http://identifiers.org/clinvar/330854 ^@ NM_003466.3(PAX8):c.*2409C>T http://identifiers.org/clinvar/330736 ^@ NM_000272.3(NPHP1):c.669C>T (p.Gly223=) http://identifiers.org/clinvar/330743 ^@ NM_006343.2(MERTK):c.583+10C>T http://identifiers.org/clinvar/330746 ^@ NM_006343.2(MERTK):c.757+13T>C http://identifiers.org/clinvar/330857 ^@ NM_003466.3(PAX8):c.*2312G>A http://identifiers.org/clinvar/330859 ^@ NM_003466.3(PAX8):c.*2193G>A http://identifiers.org/clinvar/330747 ^@ NM_006343.2(MERTK):c.773C>A (p.Ala258Glu) http://identifiers.org/clinvar/333307 ^@ NM_002156.4(HSPD1):c.1207G>A (p.Val403Met) http://identifiers.org/clinvar/333310 ^@ NM_002156.4(HSPD1):c.607-4A>G http://identifiers.org/clinvar/330867 ^@ NM_003466.3(PAX8):c.*1393A>G http://identifiers.org/clinvar/333318 ^@ NM_001006657.1(WDR35):c.*3268C>T http://identifiers.org/clinvar/330877 ^@ NM_003466.3(PAX8):c.*703G>A http://identifiers.org/clinvar/330879 ^@ NM_003466.3(PAX8):c.*423C>T http://identifiers.org/clinvar/333322 ^@ NM_001006657.1(WDR35):c.*2989C>T http://identifiers.org/clinvar/333333 ^@ NM_001006657.1(WDR35):c.*2619C>T http://identifiers.org/clinvar/330885 ^@ NM_003466.3(PAX8):c.1227C>G (p.Pro409=) http://identifiers.org/clinvar/330887 ^@ NM_003466.3(PAX8):c.1185G>A (p.Val395=) http://identifiers.org/clinvar/330893 ^@ NM_003466.3(PAX8):c.479-6C>T http://identifiers.org/clinvar/330749 ^@ NM_006343.2(MERTK):c.844G>A (p.Ala282Thr) http://identifiers.org/clinvar/330897 ^@ NM_145693.3(LPIN1):c.-75T>G http://identifiers.org/clinvar/333334 ^@ NM_001006657.1(WDR35):c.*2559A>G http://identifiers.org/clinvar/332393 ^@ NM_000210.3(ITGA6):c.*308C>T http://identifiers.org/clinvar/333336 ^@ NM_001006657.1(WDR35):c.*2408G>C http://identifiers.org/clinvar/333343 ^@ NM_001006657.1(WDR35):c.*1582C>T http://identifiers.org/clinvar/333347 ^@ NM_001006657.1(WDR35):c.*1461A>C http://identifiers.org/clinvar/332394 ^@ NM_000210.3(ITGA6):c.*434_*435insG http://identifiers.org/clinvar/332397 ^@ NM_000210.3(ITGA6):c.*595C>T http://identifiers.org/clinvar/332399 ^@ NM_000210.3(ITGA6):c.*703G>A http://identifiers.org/clinvar/332403 ^@ NM_000210.3(ITGA6):c.*782A>C http://identifiers.org/clinvar/330901 ^@ NM_145693.3(LPIN1):c.72C>T (p.Pro24=) http://identifiers.org/clinvar/330750 ^@ NM_006343.2(MERTK):c.960+9C>A http://identifiers.org/clinvar/332405 ^@ NM_000210.3(ITGA6):c.*882A>C http://identifiers.org/clinvar/332409 ^@ NM_000210.3(ITGA6):c.*1194A>G http://identifiers.org/clinvar/332411 ^@ NM_000210.3(ITGA6):c.*1383C>G http://identifiers.org/clinvar/330902 ^@ NM_145693.3(LPIN1):c.110G>A (p.Arg37His) http://identifiers.org/clinvar/333349 ^@ NM_001006657.1(WDR35):c.*1253C>G http://identifiers.org/clinvar/330904 ^@ NM_145693.3(LPIN1):c.124A>G (p.Asn42Asp) http://identifiers.org/clinvar/333351 ^@ NM_001006657.1(WDR35):c.*1127A>G http://identifiers.org/clinvar/333356 ^@ NM_001006657.1(WDR35):c.*998A>G http://identifiers.org/clinvar/330751 ^@ NM_006343.2(MERTK):c.996C>G (p.Val332=) http://identifiers.org/clinvar/330905 ^@ NM_145693.3(LPIN1):c.138C>G (p.Ser46=) http://identifiers.org/clinvar/332414 ^@ NM_000210.3(ITGA6):c.*1655G>T http://identifiers.org/clinvar/330753 ^@ NM_006343.2(MERTK):c.1262G>A (p.Arg421Gln) http://identifiers.org/clinvar/333357 ^@ NM_001006657.1(WDR35):c.*813A>T http://identifiers.org/clinvar/330907 ^@ NM_145693.3(LPIN1):c.597-4C>T http://identifiers.org/clinvar/333360 ^@ NM_001006657.1(WDR35):c.*601A>G http://identifiers.org/clinvar/330911 ^@ NM_145693.3(LPIN1):c.722+4A>G http://identifiers.org/clinvar/330913 ^@ NM_145693.3(LPIN1):c.975G>A (p.Leu325=) http://identifiers.org/clinvar/330755 ^@ NM_006343.2(MERTK):c.1405G>T (p.Val469Phe) http://identifiers.org/clinvar/332416 ^@ NM_000210.3(ITGA6):c.*1795C>G http://identifiers.org/clinvar/333364 ^@ NM_001006657.1(WDR35):c.*531T>A http://identifiers.org/clinvar/330765 ^@ NM_006343.2(MERTK):c.2079+10delT http://identifiers.org/clinvar/332421 ^@ NM_000210.3(ITGA6):c.*2069delT http://identifiers.org/clinvar/332423 ^@ NM_000210.3(ITGA6):c.*2315A>G http://identifiers.org/clinvar/330767 ^@ NM_006343.2(MERTK):c.2081A>G (p.His694Arg) http://identifiers.org/clinvar/332425 ^@ NM_000210.3(ITGA6):c.*2362_*2364dupGAA http://identifiers.org/clinvar/333365 ^@ NM_001006657.1(WDR35):c.*523G>A http://identifiers.org/clinvar/333367 ^@ NM_001006657.1(WDR35):c.*231C>A http://identifiers.org/clinvar/332428 ^@ NM_000079.3(CHRNA1):c.*426C>A http://identifiers.org/clinvar/332429 ^@ NM_000079.3(CHRNA1):c.*422G>T http://identifiers.org/clinvar/332430 ^@ NM_000079.3(CHRNA1):c.*414T>A http://identifiers.org/clinvar/332431 ^@ NM_000079.3(CHRNA1):c.*411G>A http://identifiers.org/clinvar/333368 ^@ NM_001006657.1(WDR35):c.*98T>C http://identifiers.org/clinvar/330917 ^@ NM_145693.3(LPIN1):c.1682A>G (p.Asn561Ser) http://identifiers.org/clinvar/333370 ^@ NM_001006657.1(WDR35):c.3226T>A (p.Cys1076Ser) http://identifiers.org/clinvar/333381 ^@ NM_001006657.1(WDR35):c.2433T>C (p.Ala811=) http://identifiers.org/clinvar/333384 ^@ NM_001006657.1(WDR35):c.2253C>T (p.Phe751=) http://identifiers.org/clinvar/330918 ^@ NM_145693.3(LPIN1):c.1778+7T>C http://identifiers.org/clinvar/330928 ^@ NM_145693.3(LPIN1):c.*623A>C http://identifiers.org/clinvar/330932 ^@ NM_145693.3(LPIN1):c.*897C>T http://identifiers.org/clinvar/330770 ^@ NM_006343.2(MERTK):c.*85dupT http://identifiers.org/clinvar/333385 ^@ NM_001006657.1(WDR35):c.2170G>A (p.Asp724Asn) http://identifiers.org/clinvar/333391 ^@ NM_001006657.1(WDR35):c.1669C>T (p.Arg557Cys) http://identifiers.org/clinvar/330773 ^@ NM_006343.2(MERTK):c.*310A>G http://identifiers.org/clinvar/330777 ^@ NM_012275.2(IL36RN):c.-47G>A http://identifiers.org/clinvar/330933 ^@ NM_145693.3(LPIN1):c.*1082delG http://identifiers.org/clinvar/330934 ^@ NM_145693.3(LPIN1):c.*1101C>T http://identifiers.org/clinvar/330781 ^@ NM_012275.2(IL36RN):c.*6C>T http://identifiers.org/clinvar/330782 ^@ NM_012275.2(IL36RN):c.*185C>T http://identifiers.org/clinvar/330784 ^@ NM_012275.2(IL36RN):c.*276A>G http://identifiers.org/clinvar/330790 ^@ NM_012275.2(IL36RN):c.*418A>G http://identifiers.org/clinvar/330793 ^@ NM_012275.2(IL36RN):c.*581C>G http://identifiers.org/clinvar/333392 ^@ NM_001006657.1(WDR35):c.1634G>A (p.Arg545Gln) http://identifiers.org/clinvar/332441 ^@ NM_000079.3(CHRNA1):c.1002+9G>A http://identifiers.org/clinvar/332445 ^@ NM_000079.3(CHRNA1):c.779-13_779-12delTT http://identifiers.org/clinvar/333393 ^@ NM_001006657.1(WDR35):c.1624C>G (p.Leu542Val) http://identifiers.org/clinvar/330794 ^@ NM_012275.2(IL36RN):c.*828G>A http://identifiers.org/clinvar/330935 ^@ NM_145693.3(LPIN1):c.*1263C>T http://identifiers.org/clinvar/330938 ^@ NM_145693.3(LPIN1):c.*1357G>C http://identifiers.org/clinvar/332446 ^@ NM_000079.3(CHRNA1):c.705C>A (p.Ile235=) http://identifiers.org/clinvar/330795 ^@ NM_012275.2(IL36RN):c.*857A>G http://identifiers.org/clinvar/333397 ^@ NM_001006657.1(WDR35):c.1058G>C (p.Arg353Pro) http://identifiers.org/clinvar/330940 ^@ NM_145693.3(LPIN1):c.*1400T>C http://identifiers.org/clinvar/330805 ^@ NM_012275.2(IL36RN):c.*1633C>T http://identifiers.org/clinvar/332449 ^@ NM_000079.3(CHRNA1):c.267A>G (p.Pro89=) http://identifiers.org/clinvar/332455 ^@ NM_001822.5(CHN1):c.*677G>A http://identifiers.org/clinvar/333399 ^@ NM_001006657.1(WDR35):c.1029T>C (p.Thr343=) http://identifiers.org/clinvar/332457 ^@ NM_001822.5(CHN1):c.*643A>T http://identifiers.org/clinvar/330948 ^@ NM_145693.3(LPIN1):c.*1780A>G http://identifiers.org/clinvar/330952 ^@ NM_145693.3(LPIN1):c.*2082C>T http://identifiers.org/clinvar/330959 ^@ NM_145693.3(LPIN1):c.*2597C>T http://identifiers.org/clinvar/332458 ^@ NM_001822.5(CHN1):c.*608A>G http://identifiers.org/clinvar/330965 ^@ NM_005270.4(GLI2):c.244G>A (p.Gly82Ser) http://identifiers.org/clinvar/330967 ^@ NM_005270.4(GLI2):c.595G>A (p.Gly199Ser) http://identifiers.org/clinvar/332459 ^@ NM_001822.5(CHN1):c.*214dupT http://identifiers.org/clinvar/330806 ^@ NM_012275.2(IL36RN):c.*1634A>G http://identifiers.org/clinvar/333402 ^@ NM_001006657.1(WDR35):c.766G>A (p.Val256Ile) http://identifiers.org/clinvar/330968 ^@ NM_005270.4(GLI2):c.845+10G>A http://identifiers.org/clinvar/330808 ^@ NM_012275.2(IL36RN):c.*1763G>A http://identifiers.org/clinvar/333405 ^@ NM_001006657.1(WDR35):c.308G>C (p.Gly103Ala) http://identifiers.org/clinvar/333406 ^@ NM_001006657.1(WDR35):c.215-4C>G http://identifiers.org/clinvar/330810 ^@ NM_012275.2(IL36RN):c.*1849T>A http://identifiers.org/clinvar/330813 ^@ NM_012275.2(IL36RN):c.*1914C>T http://identifiers.org/clinvar/330978 ^@ NM_005270.4(GLI2):c.2318G>A (p.Gly773Asp) http://identifiers.org/clinvar/332460 ^@ NM_001822.5(CHN1):c.*154G>A http://identifiers.org/clinvar/333407 ^@ NM_001006657.1(WDR35):c.53A>G (p.Gln18Arg) http://identifiers.org/clinvar/333408 ^@ NM_001006657.1(WDR35):c.24+4A>G http://identifiers.org/clinvar/332462 ^@ NM_001822.5(CHN1):c.1319A>G (p.Asp440Gly) http://identifiers.org/clinvar/332464 ^@ NM_001822.5(CHN1):c.886+15G>A http://identifiers.org/clinvar/332465 ^@ NM_001822.5(CHN1):c.628-4dupT http://identifiers.org/clinvar/333427 ^@ NM_002381.4(MATN3):c.330C>T (p.Ile110=) http://identifiers.org/clinvar/332476 ^@ NM_001822.5(CHN1):c.-298C>G http://identifiers.org/clinvar/332486 ^@ NM_002148.3(HOXD10):c.623A>G (p.Gln208Arg) http://identifiers.org/clinvar/330979 ^@ NM_005270.4(GLI2):c.2446G>T (p.Ala816Ser) http://identifiers.org/clinvar/333413 ^@ NM_032977.3(CASP10):c.-285C>T http://identifiers.org/clinvar/332491 ^@ NM_002148.3(HOXD10):c.*21C>T http://identifiers.org/clinvar/332493 ^@ NM_002148.3(HOXD10):c.*55G>T http://identifiers.org/clinvar/332503 ^@ NM_002148.3(HOXD10):c.*270G>A http://identifiers.org/clinvar/333414 ^@ NM_032977.3(CASP10):c.-206C>T http://identifiers.org/clinvar/332505 ^@ NM_002148.3(HOXD10):c.*468A>T http://identifiers.org/clinvar/330982 ^@ NM_005270.4(GLI2):c.2916T>A (p.Pro972=) http://identifiers.org/clinvar/332507 ^@ NM_002148.3(HOXD10):c.*585C>T http://identifiers.org/clinvar/332518 ^@ NM_003659.3(AGPS):c.1152C>A (p.Val384=) http://identifiers.org/clinvar/333416 ^@ NM_032977.3(CASP10):c.49A>G (p.Lys17Glu) http://identifiers.org/clinvar/332519 ^@ NM_003659.3(AGPS):c.1233+5A>G http://identifiers.org/clinvar/332521 ^@ NM_003659.3(AGPS):c.1597C>A (p.Pro533Thr) http://identifiers.org/clinvar/332534 ^@ NM_003659.3(AGPS):c.*552T>G http://identifiers.org/clinvar/330816 ^@ NM_012275.2(IL36RN):c.*1995T>C http://identifiers.org/clinvar/332535 ^@ NM_003659.3(AGPS):c.*560T>A http://identifiers.org/clinvar/333420 ^@ NM_032977.3(CASP10):c.347+9G>T http://identifiers.org/clinvar/332536 ^@ NM_003659.3(AGPS):c.*641T>C http://identifiers.org/clinvar/332551 ^@ NM_003659.3(AGPS):c.*1858_*1859dupAT http://identifiers.org/clinvar/332553 ^@ NM_003659.3(AGPS):c.*1860_*1861dupGT http://identifiers.org/clinvar/330983 ^@ NM_005270.4(GLI2):c.3006C>G (p.Ala1002=) http://identifiers.org/clinvar/333424 ^@ NM_032977.3(CASP10):c.534A>G (p.Val178=) http://identifiers.org/clinvar/333429 ^@ NM_032977.3(CASP10):c.666A>G (p.Thr222=) http://identifiers.org/clinvar/330986 ^@ NM_005270.4(GLI2):c.3460G>A (p.Val1154Ile) http://identifiers.org/clinvar/330988 ^@ NM_005270.4(GLI2):c.3647T>A (p.Ile1216Asn) http://identifiers.org/clinvar/332556 ^@ NM_003659.3(AGPS):c.*1863_*1864insATGT http://identifiers.org/clinvar/333432 ^@ NM_032977.3(CASP10):c.923-12delG http://identifiers.org/clinvar/332560 ^@ NM_003659.3(AGPS):c.*1868_*1869insCG http://identifiers.org/clinvar/332568 ^@ NM_003659.3(AGPS):c.*2091T>C http://identifiers.org/clinvar/333435 ^@ NM_032977.3(CASP10):c.1216A>T (p.Ile406Leu) http://identifiers.org/clinvar/333438 ^@ NM_032977.3(CASP10):c.1350G>T (p.Arg450=) http://identifiers.org/clinvar/333440 ^@ NM_032977.3(CASP10):c.1466G>A (p.Arg489Gln) http://identifiers.org/clinvar/332570 ^@ NM_003659.3(AGPS):c.*2455C>T http://identifiers.org/clinvar/332581 ^@ NM_003659.3(AGPS):c.*3262C>A http://identifiers.org/clinvar/332586 ^@ NM_003659.3(AGPS):c.*3917_*3922delAGTTTT http://identifiers.org/clinvar/330990 ^@ NM_005270.4(GLI2):c.3937C>A (p.Pro1313Thr) http://identifiers.org/clinvar/330993 ^@ NM_005270.4(GLI2):c.4221G>A (p.Pro1407=) http://identifiers.org/clinvar/330822 ^@ NM_173841.2(IL1RN):c.73+8A>C http://identifiers.org/clinvar/330827 ^@ NM_173841.2(IL1RN):c.399T>C (p.Ser133=) http://identifiers.org/clinvar/332590 ^@ NM_003659.3(AGPS):c.*4132A>G http://identifiers.org/clinvar/332595 ^@ NM_003659.3(AGPS):c.*4660delT http://identifiers.org/clinvar/332599 ^@ NM_003659.3(AGPS):c.*4974T>C http://identifiers.org/clinvar/332606 ^@ NM_003659.3(AGPS):c.*5159T>C http://identifiers.org/clinvar/330994 ^@ NM_005270.4(GLI2):c.4259C>G (p.Ala1420Gly) http://identifiers.org/clinvar/332612 ^@ NM_003690.4(PRKRA):c.*439_*442delATTG http://identifiers.org/clinvar/332614 ^@ NM_003690.4(PRKRA):c.*265A>C http://identifiers.org/clinvar/330995 ^@ NM_005270.4(GLI2):c.4306G>A (p.Ala1436Thr) http://identifiers.org/clinvar/330830 ^@ NM_173841.2(IL1RN):c.*119C>T http://identifiers.org/clinvar/332615 ^@ NM_003690.4(PRKRA):c.*198C>T http://identifiers.org/clinvar/332618 ^@ NM_003690.4(PRKRA):c.*158A>G http://identifiers.org/clinvar/333456 ^@ NM_032977.3(CASP10):c.*905C>T http://identifiers.org/clinvar/333459 ^@ NM_032977.3(CASP10):c.*1125T>C http://identifiers.org/clinvar/332619 ^@ NM_003690.4(PRKRA):c.*151A>T http://identifiers.org/clinvar/332623 ^@ NM_003690.4(PRKRA):c.685C>T (p.Leu229=) http://identifiers.org/clinvar/332624 ^@ NM_003690.4(PRKRA):c.677T>A (p.Ile226Asn) http://identifiers.org/clinvar/330997 ^@ NM_005270.4(GLI2):c.4358T>C (p.Met1453Thr) http://identifiers.org/clinvar/333462 ^@ NM_032977.3(CASP10):c.*1471G>A http://identifiers.org/clinvar/331007 ^@ NM_005270.4(GLI2):c.*963A>T http://identifiers.org/clinvar/333464 ^@ NM_032977.3(CASP10):c.*1538T>A http://identifiers.org/clinvar/333467 ^@ NM_032977.3(CASP10):c.*1793C>A http://identifiers.org/clinvar/332625 ^@ NM_003690.4(PRKRA):c.610-11_610-10delCT http://identifiers.org/clinvar/332631 ^@ NM_003690.4(PRKRA):c.173A>G (p.Asp58Gly) http://identifiers.org/clinvar/332634 ^@ NM_003690.4(PRKRA):c.22_23delGC (p.Ala8Argfs) http://identifiers.org/clinvar/333468 ^@ NM_032977.3(CASP10):c.*1909A>G http://identifiers.org/clinvar/332648 ^@ NM_001042702.3(DFNB59):c.-263G>A http://identifiers.org/clinvar/333469 ^@ NM_032977.3(CASP10):c.*1920G>C http://identifiers.org/clinvar/332649 ^@ NM_001042702.3(DFNB59):c.-234C>T http://identifiers.org/clinvar/332659 ^@ NM_001042702.3(DFNB59):c.298G>A (p.Val100Ile) http://identifiers.org/clinvar/332664 ^@ NM_133378.4(TTN):c.*919G>C http://identifiers.org/clinvar/330836 ^@ NM_173841.2(IL1RN):c.*310T>C http://identifiers.org/clinvar/333472 ^@ NM_032977.3(CASP10):c.*2177delG http://identifiers.org/clinvar/332670 ^@ NM_133378.4(TTN):c.*280A>G http://identifiers.org/clinvar/333477 ^@ NM_032977.3(CASP10):c.*2590G>C http://identifiers.org/clinvar/332673 ^@ NM_133378.4(TTN):c.*130G>C http://identifiers.org/clinvar/332676 ^@ NM_133378.4(TTN):c.*25C>T http://identifiers.org/clinvar/332680 ^@ NM_133378.4(TTN):c.99019G>A (p.Glu33007Lys) http://identifiers.org/clinvar/333494 ^@ NM_032977.3(CASP10):c.*3478T>G http://identifiers.org/clinvar/332684 ^@ NM_133378.4(TTN):c.98193G>C (p.Glu32731Asp) http://identifiers.org/clinvar/332687 ^@ NM_133378.4(TTN):c.97679C>T (p.Ala32560Val) http://identifiers.org/clinvar/331008 ^@ NM_005270.4(GLI2):c.*1029C>T http://identifiers.org/clinvar/331019 ^@ NM_005270.4(GLI2):c.*1371_*1376delACACAC http://identifiers.org/clinvar/333499 ^@ NM_001228.4(CASP8):c.528A>G (p.Ile176Met) http://identifiers.org/clinvar/331017 ^@ NM_005270.4(GLI2):c.*1375_*1376delAC http://identifiers.org/clinvar/331020 ^@ NM_005270.4(GLI2):c.*1376_*1377insACACCCC http://identifiers.org/clinvar/331021 ^@ NM_005270.4(GLI2):c.*1376_*1377insACCC http://identifiers.org/clinvar/330841 ^@ NM_173841.2(IL1RN):c.*601C>G http://identifiers.org/clinvar/332692 ^@ NM_133378.4(TTN):c.96573G>A (p.Lys32191=) http://identifiers.org/clinvar/332693 ^@ NM_133378.4(TTN):c.96368T>C (p.Phe32123Ser) http://identifiers.org/clinvar/332702 ^@ NM_133378.4(TTN):c.93334A>G (p.Lys31112Glu) http://identifiers.org/clinvar/330843 ^@ NM_173841.2(IL1RN):c.*691delT http://identifiers.org/clinvar/330855 ^@ NM_003466.3(PAX8):c.*2326A>G http://identifiers.org/clinvar/330861 ^@ NM_003466.3(PAX8):c.*2146A>G http://identifiers.org/clinvar/330865 ^@ NM_003466.3(PAX8):c.*1807C>G http://identifiers.org/clinvar/332704 ^@ NM_133378.4(TTN):c.92262G>T (p.Trp30754Cys) http://identifiers.org/clinvar/332706 ^@ NM_133378.4(TTN):c.91863C>T (p.Leu30621=) http://identifiers.org/clinvar/333504 ^@ NM_001228.4(CASP8):c.970A>G (p.Met324Val) http://identifiers.org/clinvar/332710 ^@ NM_133378.4(TTN):c.91450C>T (p.Arg30484Cys) http://identifiers.org/clinvar/333507 ^@ NM_001228.4(CASP8):c.1355+12C>T http://identifiers.org/clinvar/332714 ^@ NM_133378.4(TTN):c.90013C>T (p.Arg30005Cys) http://identifiers.org/clinvar/332716 ^@ NM_133378.4(TTN):c.89820A>G (p.Ile29940Met) http://identifiers.org/clinvar/333511 ^@ NM_001228.4(CASP8):c.*98C>T http://identifiers.org/clinvar/331026 ^@ NM_005270.4(GLI2):c.*1785A>G http://identifiers.org/clinvar/333517 ^@ NM_001228.4(CASP8):c.*316C>T http://identifiers.org/clinvar/331027 ^@ NM_005270.4(GLI2):c.*1819T>C http://identifiers.org/clinvar/332717 ^@ NM_133378.4(TTN):c.89706T>C (p.Tyr29902=) http://identifiers.org/clinvar/332724 ^@ NM_133378.4(TTN):c.87312T>C (p.Thr29104=) http://identifiers.org/clinvar/333520 ^@ NM_001228.4(CASP8):c.*464T>C http://identifiers.org/clinvar/333521 ^@ NM_001228.4(CASP8):c.*578C>A http://identifiers.org/clinvar/330868 ^@ NM_003466.3(PAX8):c.*1044A>C http://identifiers.org/clinvar/330872 ^@ NM_003466.3(PAX8):c.*938C>G http://identifiers.org/clinvar/332729 ^@ NM_133378.4(TTN):c.84354C>T (p.Asn28118=) http://identifiers.org/clinvar/333530 ^@ NM_001044385.2(TMEM237):c.*3697G>A http://identifiers.org/clinvar/331031 ^@ NM_005270.4(GLI2):c.*1895G>A http://identifiers.org/clinvar/333539 ^@ NM_001044385.2(TMEM237):c.*2582G>T http://identifiers.org/clinvar/333540 ^@ NM_001044385.2(TMEM237):c.*2480T>G http://identifiers.org/clinvar/331035 ^@ NM_139343.2(BIN1):c.*413G>A http://identifiers.org/clinvar/333541 ^@ NM_001044385.2(TMEM237):c.*2465A>G http://identifiers.org/clinvar/333555 ^@ NM_001044385.2(TMEM237):c.*492T>C http://identifiers.org/clinvar/330875 ^@ NM_003466.3(PAX8):c.*764C>T http://identifiers.org/clinvar/332739 ^@ NM_133378.4(TTN):c.81147C>T (p.Gly27049=) http://identifiers.org/clinvar/332753 ^@ NM_133378.4(TTN):c.75888C>G (p.Pro25296=) http://identifiers.org/clinvar/333561 ^@ NM_001044385.2(TMEM237):c.807G>A (p.Ala269=) http://identifiers.org/clinvar/332763 ^@ NM_133378.4(TTN):c.73313G>T (p.Ser24438Ile) http://identifiers.org/clinvar/333574 ^@ NM_020919.3(ALS2):c.*1004G>A http://identifiers.org/clinvar/332764 ^@ NM_133378.4(TTN):c.73200C>T (p.Ile24400=) http://identifiers.org/clinvar/333579 ^@ NM_020919.3(ALS2):c.*379T>A http://identifiers.org/clinvar/333590 ^@ NM_020919.3(ALS2):c.3876G>A (p.Lys1292=) http://identifiers.org/clinvar/331036 ^@ NM_139343.2(BIN1):c.*301C>T http://identifiers.org/clinvar/331042 ^@ NM_139343.2(BIN1):c.1727A>T (p.Glu576Val) http://identifiers.org/clinvar/332770 ^@ NM_133378.4(TTN):c.71451G>A (p.Val23817=) http://identifiers.org/clinvar/331043 ^@ NM_139343.2(BIN1):c.1515C>G (p.Thr505=) http://identifiers.org/clinvar/330876 ^@ NM_003466.3(PAX8):c.*708C>T http://identifiers.org/clinvar/332772 ^@ NM_133378.4(TTN):c.70950T>C (p.His23650=) http://identifiers.org/clinvar/333591 ^@ NM_020919.3(ALS2):c.3625-16_3625-15delTT http://identifiers.org/clinvar/333593 ^@ NM_020919.3(ALS2):c.2909G>T (p.Gly970Val) http://identifiers.org/clinvar/333595 ^@ NM_020919.3(ALS2):c.2479A>T (p.Thr827Ser) http://identifiers.org/clinvar/330880 ^@ NM_003466.3(PAX8):c.*368G>C http://identifiers.org/clinvar/330881 ^@ NM_003466.3(PAX8):c.*204C>A http://identifiers.org/clinvar/332774 ^@ NM_133378.4(TTN):c.69945C>T (p.Ile23315=) http://identifiers.org/clinvar/332783 ^@ NM_133378.4(TTN):c.66898A>G (p.Ile22300Val) http://identifiers.org/clinvar/331046 ^@ NM_139343.2(BIN1):c.1328C>T (p.Ala443Val) http://identifiers.org/clinvar/333599 ^@ NM_020919.3(ALS2):c.1251A>G (p.Ser417=) http://identifiers.org/clinvar/333606 ^@ NM_020919.3(ALS2):c.-128C>T http://identifiers.org/clinvar/330882 ^@ NM_003466.3(PAX8):c.*187A>G http://identifiers.org/clinvar/330886 ^@ NM_003466.3(PAX8):c.1189+15G>A http://identifiers.org/clinvar/333607 ^@ NM_020919.3(ALS2):c.-328A>G http://identifiers.org/clinvar/330888 ^@ NM_003466.3(PAX8):c.1060C>G (p.Gln354Glu) http://identifiers.org/clinvar/333611 ^@ NM_001005781.1(SUMO1):c.*275A>G http://identifiers.org/clinvar/333614 ^@ NM_001005781.1(SUMO1):c.88-17_88-11delCTTTTTT http://identifiers.org/clinvar/333615 ^@ NM_001005781.1(SUMO1):c.-32T>G http://identifiers.org/clinvar/333619 ^@ NM_001204.6(BMPR2):c.-933G>A http://identifiers.org/clinvar/331049 ^@ NM_139343.2(BIN1):c.1132-7_1132-5dupTGC http://identifiers.org/clinvar/331051 ^@ NM_139343.2(BIN1):c.1047G>A (p.Pro349=) http://identifiers.org/clinvar/332788 ^@ NM_133378.4(TTN):c.64179T>C (p.Val21393=) http://identifiers.org/clinvar/332790 ^@ NM_133378.4(TTN):c.64089A>G (p.Pro21363=) http://identifiers.org/clinvar/330891 ^@ NM_003466.3(PAX8):c.858G>T (p.Gly286=) http://identifiers.org/clinvar/333624 ^@ NM_001204.6(BMPR2):c.-871G>A http://identifiers.org/clinvar/332791 ^@ NM_133378.4(TTN):c.63354G>A (p.Ala21118=) http://identifiers.org/clinvar/332794 ^@ NM_133378.4(TTN):c.61786G>A (p.Val20596Met) http://identifiers.org/clinvar/332804 ^@ NM_133378.4(TTN):c.57795A>G (p.Arg19265=) http://identifiers.org/clinvar/332807 ^@ NM_133378.4(TTN):c.57464G>A (p.Gly19155Asp) http://identifiers.org/clinvar/332808 ^@ NM_133378.4(TTN):c.57318C>T (p.Asp19106=) http://identifiers.org/clinvar/332810 ^@ NM_133378.4(TTN):c.56983C>G (p.Pro18995Ala) http://identifiers.org/clinvar/333630 ^@ NM_001204.6(BMPR2):c.-594A>G http://identifiers.org/clinvar/333631 ^@ NM_001204.6(BMPR2):c.-575A>T http://identifiers.org/clinvar/332815 ^@ NM_133378.4(TTN):c.54905A>C (p.Asn18302Thr) http://identifiers.org/clinvar/330895 ^@ NM_003466.3(PAX8):c.129G>A (p.Arg43=) http://identifiers.org/clinvar/333642 ^@ NM_001204.6(BMPR2):c.1042G>A (p.Val348Ile) http://identifiers.org/clinvar/333651 ^@ NM_001204.6(BMPR2):c.2887G>T (p.Gly963Cys) http://identifiers.org/clinvar/332825 ^@ NM_133378.4(TTN):c.50935G>A (p.Gly16979Arg) http://identifiers.org/clinvar/333658 ^@ NM_001204.6(BMPR2):c.*241C>T http://identifiers.org/clinvar/330908 ^@ NM_145693.3(LPIN1):c.616C>G (p.Pro206Ala) http://identifiers.org/clinvar/331055 ^@ NM_139343.2(BIN1):c.384G>A (p.Thr128=) http://identifiers.org/clinvar/330916 ^@ NM_145693.3(LPIN1):c.1266A>C (p.Gly422=) http://identifiers.org/clinvar/333659 ^@ NM_001204.6(BMPR2):c.*309delA http://identifiers.org/clinvar/332826 ^@ NM_133378.4(TTN):c.50667C>T (p.Tyr16889=) http://identifiers.org/clinvar/330920 ^@ NM_145693.3(LPIN1):c.2285C>A (p.Ala762Asp) http://identifiers.org/clinvar/333661 ^@ NM_001204.6(BMPR2):c.*454G>A http://identifiers.org/clinvar/333668 ^@ NM_001204.6(BMPR2):c.*1236C>A http://identifiers.org/clinvar/330923 ^@ NM_145693.3(LPIN1):c.*326C>T http://identifiers.org/clinvar/331056 ^@ NM_139343.2(BIN1):c.330G>A (p.Leu110=) http://identifiers.org/clinvar/330925 ^@ NM_145693.3(LPIN1):c.*425G>A http://identifiers.org/clinvar/330929 ^@ NM_145693.3(LPIN1):c.*624A>G http://identifiers.org/clinvar/332827 ^@ NM_133378.4(TTN):c.50333T>C (p.Val16778Ala) http://identifiers.org/clinvar/332828 ^@ NM_133378.4(TTN):c.49057C>T (p.Leu16353=) http://identifiers.org/clinvar/333673 ^@ NM_001204.6(BMPR2):c.*1732T>C http://identifiers.org/clinvar/332830 ^@ NM_133378.4(TTN):c.48582T>C (p.Tyr16194=) http://identifiers.org/clinvar/332832 ^@ NM_133378.4(TTN):c.46765A>G (p.Lys15589Glu) http://identifiers.org/clinvar/330931 ^@ NM_145693.3(LPIN1):c.*816A>G http://identifiers.org/clinvar/330936 ^@ NM_145693.3(LPIN1):c.*1342_*1344delATT http://identifiers.org/clinvar/332856 ^@ NM_133378.4(TTN):c.39180G>A (p.Lys13060=) http://identifiers.org/clinvar/331057 ^@ NM_139343.2(BIN1):c.84+9G>A http://identifiers.org/clinvar/333674 ^@ NM_001204.6(BMPR2):c.*1999T>G http://identifiers.org/clinvar/331065 ^@ NM_139343.2(BIN1):c.-272G>A http://identifiers.org/clinvar/333675 ^@ NM_001204.6(BMPR2):c.*2035C>T http://identifiers.org/clinvar/330937 ^@ NM_145693.3(LPIN1):c.*1343T>C http://identifiers.org/clinvar/330939 ^@ NM_145693.3(LPIN1):c.*1374G>C http://identifiers.org/clinvar/332860 ^@ NM_133378.4(TTN):c.38340A>C (p.Ser12780=) http://identifiers.org/clinvar/330941 ^@ NM_145693.3(LPIN1):c.*1570C>G http://identifiers.org/clinvar/332861 ^@ NM_133378.4(TTN):c.38275C>T (p.Arg12759Cys) http://identifiers.org/clinvar/332865 ^@ NM_133378.4(TTN):c.37209+10dupT http://identifiers.org/clinvar/333676 ^@ NM_001204.6(BMPR2):c.*2173A>G http://identifiers.org/clinvar/331066 ^@ NM_139343.2(BIN1):c.-314G>C http://identifiers.org/clinvar/333680 ^@ NM_001204.6(BMPR2):c.*2833G>A http://identifiers.org/clinvar/333681 ^@ NM_001204.6(BMPR2):c.*2854T>G http://identifiers.org/clinvar/331070 ^@ NM_000122.1(ERCC3):c.*177A>G http://identifiers.org/clinvar/330944 ^@ NM_145693.3(LPIN1):c.*1699G>A http://identifiers.org/clinvar/332867 ^@ NM_133378.4(TTN):c.36895G>A (p.Gly12299Arg) http://identifiers.org/clinvar/332873 ^@ NM_133378.4(TTN):c.33799C>T (p.Arg11267Trp) http://identifiers.org/clinvar/332877 ^@ NM_133378.4(TTN):c.32163G>A (p.Val10721=) http://identifiers.org/clinvar/331072 ^@ NM_000122.1(ERCC3):c.*29C>T http://identifiers.org/clinvar/332879 ^@ NM_133378.4(TTN):c.31742-15C>T http://identifiers.org/clinvar/333688 ^@ NM_001204.6(BMPR2):c.*3353T>C http://identifiers.org/clinvar/333692 ^@ NM_001204.6(BMPR2):c.*3554C>T http://identifiers.org/clinvar/332881 ^@ NM_133378.4(TTN):c.30515A>T (p.Glu10172Val) http://identifiers.org/clinvar/332887 ^@ NM_133378.4(TTN):c.29222G>C (p.Arg9741Pro) http://identifiers.org/clinvar/332889 ^@ NM_133378.4(TTN):c.28859A>G (p.Lys9620Arg) http://identifiers.org/clinvar/333695 ^@ NM_001204.6(BMPR2):c.*3907G>C http://identifiers.org/clinvar/332891 ^@ NM_133378.4(TTN):c.28125A>G (p.Val9375=) http://identifiers.org/clinvar/332895 ^@ NM_133378.4(TTN):c.27278A>G (p.Tyr9093Cys) http://identifiers.org/clinvar/330946 ^@ NM_145693.3(LPIN1):c.*1722delC http://identifiers.org/clinvar/330949 ^@ NM_145693.3(LPIN1):c.*2005delT http://identifiers.org/clinvar/333701 ^@ NM_001204.6(BMPR2):c.*5031C>T http://identifiers.org/clinvar/330953 ^@ NM_145693.3(LPIN1):c.*2086C>G http://identifiers.org/clinvar/332897 ^@ NM_133378.4(TTN):c.26951-3delT http://identifiers.org/clinvar/332914 ^@ NM_133378.4(TTN):c.18741C>T (p.Cys6247=) http://identifiers.org/clinvar/331080 ^@ NM_000122.1(ERCC3):c.1371C>T (p.Ile457=) http://identifiers.org/clinvar/332925 ^@ NM_133378.4(TTN):c.12977C>T (p.Thr4326Ile) http://identifiers.org/clinvar/332929 ^@ NM_133378.4(TTN):c.12328G>C (p.Asp4110His) http://identifiers.org/clinvar/330954 ^@ NM_145693.3(LPIN1):c.*2213G>A http://identifiers.org/clinvar/332933 ^@ NM_133378.4(TTN):c.11676G>A (p.Ser3892=) http://identifiers.org/clinvar/332937 ^@ NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu) http://identifiers.org/clinvar/332938 ^@ NM_133378.4(TTN):c.10164G>T (p.Arg3388=) http://identifiers.org/clinvar/331088 ^@ NM_000122.1(ERCC3):c.657+15G>A http://identifiers.org/clinvar/333714 ^@ NM_001204.6(BMPR2):c.*5781A>G http://identifiers.org/clinvar/331092 ^@ NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) http://identifiers.org/clinvar/330955 ^@ NM_145693.3(LPIN1):c.*2274C>G http://identifiers.org/clinvar/330960 ^@ NM_005270.4(GLI2):c.-1G>C http://identifiers.org/clinvar/332941 ^@ NM_133378.4(TTN):c.9509T>C (p.Val3170Ala) http://identifiers.org/clinvar/332942 ^@ NM_133378.4(TTN):c.9348C>G (p.Ile3116Met) http://identifiers.org/clinvar/333717 ^@ NM_001204.6(BMPR2):c.*5998G>A http://identifiers.org/clinvar/333721 ^@ NM_001204.6(BMPR2):c.*6525G>A http://identifiers.org/clinvar/331093 ^@ NM_000122.1(ERCC3):c.279C>T (p.Tyr93=) http://identifiers.org/clinvar/331097 ^@ NM_000122.1(ERCC3):c.-19C>T http://identifiers.org/clinvar/330962 ^@ NM_005270.4(GLI2):c.148+5T>C http://identifiers.org/clinvar/332947 ^@ NM_133378.4(TTN):c.7368G>C (p.Val2456=) http://identifiers.org/clinvar/333728 ^@ NM_001204.6(BMPR2):c.*7496T>C http://identifiers.org/clinvar/330963 ^@ NM_005270.4(GLI2):c.148+15G>A http://identifiers.org/clinvar/331104 ^@ NM_000312.3(PROC):c.400+13G>A http://identifiers.org/clinvar/331107 ^@ NM_000312.3(PROC):c.666C>G (p.Asp222Glu) http://identifiers.org/clinvar/330971 ^@ NM_005270.4(GLI2):c.1684-7T>A http://identifiers.org/clinvar/330972 ^@ NM_005270.4(GLI2):c.1802A>G (p.Asn601Ser) http://identifiers.org/clinvar/331121 ^@ NM_012233.2(RAB3GAP1):c.411C>T (p.Asp137=) http://identifiers.org/clinvar/332949 ^@ NM_133378.4(TTN):c.6958C>T (p.Arg2320Cys) http://identifiers.org/clinvar/332950 ^@ NM_133378.4(TTN):c.6768G>A (p.Thr2256=) http://identifiers.org/clinvar/330973 ^@ NM_005270.4(GLI2):c.1806C>T (p.Asp602=) http://identifiers.org/clinvar/333729 ^@ NM_001204.6(BMPR2):c.*7505T>G http://identifiers.org/clinvar/333730 ^@ NM_001204.6(BMPR2):c.*7750G>T http://identifiers.org/clinvar/331122 ^@ NM_012233.2(RAB3GAP1):c.944G>A (p.Arg315Gln) http://identifiers.org/clinvar/331125 ^@ NM_012233.2(RAB3GAP1):c.1113A>G (p.Ala371=) http://identifiers.org/clinvar/333731 ^@ NM_001204.6(BMPR2):c.*7776C>T http://identifiers.org/clinvar/333734 ^@ NM_012092.3(ICOS):c.184C>T (p.Leu62Phe) http://identifiers.org/clinvar/333739 ^@ NM_012092.3(ICOS):c.*2A>C http://identifiers.org/clinvar/331126 ^@ NM_012233.2(RAB3GAP1):c.1175G>A (p.Arg392Gln) http://identifiers.org/clinvar/331132 ^@ NM_012233.2(RAB3GAP1):c.*170C>T http://identifiers.org/clinvar/331133 ^@ NM_012233.2(RAB3GAP1):c.*171G>A http://identifiers.org/clinvar/333745 ^@ NM_012092.3(ICOS):c.*859A>T http://identifiers.org/clinvar/333750 ^@ NM_012092.3(ICOS):c.*1004C>G http://identifiers.org/clinvar/332953 ^@ NM_133378.4(TTN):c.5073A>T (p.Glu1691Asp) http://identifiers.org/clinvar/332954 ^@ NM_133378.4(TTN):c.5039T>A (p.Leu1680His) http://identifiers.org/clinvar/332958 ^@ NM_133378.4(TTN):c.4319G>T (p.Gly1440Val) http://identifiers.org/clinvar/331138 ^@ NM_012233.2(RAB3GAP1):c.*283C>T http://identifiers.org/clinvar/332960 ^@ NM_133378.4(TTN):c.3380+12G>T http://identifiers.org/clinvar/332964 ^@ NM_133378.4(TTN):c.3132C>T (p.Ala1044=) http://identifiers.org/clinvar/332966 ^@ NM_133378.4(TTN):c.2370+9A>G http://identifiers.org/clinvar/333754 ^@ NM_012092.3(ICOS):c.*1094C>T http://identifiers.org/clinvar/333755 ^@ NM_012092.3(ICOS):c.*1095A>G http://identifiers.org/clinvar/332969 ^@ NM_133378.4(TTN):c.1398+9G>A http://identifiers.org/clinvar/332997 ^@ NM_201548.4(CERKL):c.*330C>T http://identifiers.org/clinvar/330975 ^@ NM_005270.4(GLI2):c.1968C>T (p.Ser656=) http://identifiers.org/clinvar/330985 ^@ NM_005270.4(GLI2):c.3279C>T (p.Phe1093=) http://identifiers.org/clinvar/330991 ^@ NM_005270.4(GLI2):c.4065A>G (p.Gln1355=) http://identifiers.org/clinvar/333001 ^@ NM_201548.4(CERKL):c.*121C>T http://identifiers.org/clinvar/330996 ^@ NM_005270.4(GLI2):c.4344C>T (p.Tyr1448=) http://identifiers.org/clinvar/333000 ^@ NM_201548.4(CERKL):c.*121delCinsTGATTTTTCT http://identifiers.org/clinvar/331001 ^@ NM_005270.4(GLI2):c.*81_*82delTT http://identifiers.org/clinvar/331003 ^@ NM_005270.4(GLI2):c.*378A>G http://identifiers.org/clinvar/333003 ^@ NM_201548.4(CERKL):c.*92G>C http://identifiers.org/clinvar/333007 ^@ NM_201548.4(CERKL):c.900T>C (p.His300=) http://identifiers.org/clinvar/331140 ^@ NM_012233.2(RAB3GAP1):c.*324T>G http://identifiers.org/clinvar/331141 ^@ NM_012233.2(RAB3GAP1):c.*346G>A http://identifiers.org/clinvar/331146 ^@ NM_012233.2(RAB3GAP1):c.*1077T>C http://identifiers.org/clinvar/331148 ^@ NM_012233.2(RAB3GAP1):c.*1208delA http://identifiers.org/clinvar/333010 ^@ NM_201548.4(CERKL):c.454T>C (p.Phe152Leu) http://identifiers.org/clinvar/331149 ^@ NM_012233.2(RAB3GAP1):c.*1378T>C http://identifiers.org/clinvar/331004 ^@ NM_005270.4(GLI2):c.*419C>T http://identifiers.org/clinvar/331152 ^@ NM_012233.2(RAB3GAP1):c.*1611A>T http://identifiers.org/clinvar/331153 ^@ NM_012233.2(RAB3GAP1):c.*1693G>C http://identifiers.org/clinvar/333756 ^@ NM_012092.3(ICOS):c.*1249G>A http://identifiers.org/clinvar/331009 ^@ NM_005270.4(GLI2):c.*1147_*1148delAT http://identifiers.org/clinvar/333757 ^@ NM_012092.3(ICOS):c.*1262A>G http://identifiers.org/clinvar/331012 ^@ NM_005270.4(GLI2):c.*1332T>C http://identifiers.org/clinvar/331015 ^@ NM_005270.4(GLI2):c.*1371_*1376dupACACAC http://identifiers.org/clinvar/333011 ^@ NM_201548.4(CERKL):c.313C>T (p.Arg105Trp) http://identifiers.org/clinvar/333758 ^@ NM_012092.3(ICOS):c.*1293T>C http://identifiers.org/clinvar/333016 ^@ NM_201548.4(CERKL):c.15G>A (p.Arg5=) http://identifiers.org/clinvar/331024 ^@ NM_005270.4(GLI2):c.*1375A>C http://identifiers.org/clinvar/331158 ^@ NM_002299.3(LCT):c.*230T>C http://identifiers.org/clinvar/331164 ^@ NM_002299.3(LCT):c.5568T>C (p.Ala1856=) http://identifiers.org/clinvar/333762 ^@ NM_005006.6(NDUFS1):c.*966A>G http://identifiers.org/clinvar/333765 ^@ NM_005006.6(NDUFS1):c.*846delT http://identifiers.org/clinvar/333767 ^@ NM_005006.6(NDUFS1):c.*733A>G http://identifiers.org/clinvar/333768 ^@ NM_005006.6(NDUFS1):c.*641A>G http://identifiers.org/clinvar/331171 ^@ NM_002299.3(LCT):c.4646A>G (p.Tyr1549Cys) http://identifiers.org/clinvar/331176 ^@ NM_002299.3(LCT):c.4329C>T (p.Gly1443=) http://identifiers.org/clinvar/331179 ^@ NM_002299.3(LCT):c.4122C>T (p.Tyr1374=) http://identifiers.org/clinvar/333019 ^@ NM_002500.4(NEUROD1):c.*1555C>T http://identifiers.org/clinvar/331180 ^@ NM_002299.3(LCT):c.4026G>A (p.Thr1342=) http://identifiers.org/clinvar/333020 ^@ NM_002500.4(NEUROD1):c.*1339T>C http://identifiers.org/clinvar/333021 ^@ NM_002500.4(NEUROD1):c.*1096T>C http://identifiers.org/clinvar/331183 ^@ NM_002299.3(LCT):c.3759G>A (p.Thr1253=) http://identifiers.org/clinvar/331184 ^@ NM_002299.3(LCT):c.3599C>T (p.Thr1200Met) http://identifiers.org/clinvar/333023 ^@ NM_002500.4(NEUROD1):c.*773A>C http://identifiers.org/clinvar/333026 ^@ NM_002500.4(NEUROD1):c.*676_*677dupAA http://identifiers.org/clinvar/331188 ^@ NM_002299.3(LCT):c.3341A>G (p.Gln1114Arg) http://identifiers.org/clinvar/331199 ^@ NM_002299.3(LCT):c.1780C>G (p.Gln594Glu) http://identifiers.org/clinvar/333029 ^@ NM_002500.4(NEUROD1):c.*640_*641dupTT http://identifiers.org/clinvar/333032 ^@ NM_002500.4(NEUROD1):c.*463delT http://identifiers.org/clinvar/331200 ^@ NM_002299.3(LCT):c.1650C>G (p.Gly550=) http://identifiers.org/clinvar/331202 ^@ NM_002299.3(LCT):c.1419C>A (p.Gly473=) http://identifiers.org/clinvar/333775 ^@ NM_005006.6(NDUFS1):c.*256C>T http://identifiers.org/clinvar/331211 ^@ NM_002299.3(LCT):c.454G>A (p.Ala152Thr) http://identifiers.org/clinvar/333778 ^@ NM_005006.6(NDUFS1):c.*93dupA http://identifiers.org/clinvar/333034 ^@ NM_002500.4(NEUROD1):c.*164_*165delAG http://identifiers.org/clinvar/333045 ^@ NM_000090.3(COL3A1):c.-80G>A http://identifiers.org/clinvar/333046 ^@ NM_000090.3(COL3A1):c.80-13A>C http://identifiers.org/clinvar/331013 ^@ NM_005270.4(GLI2):c.*1375_*1376dupAC http://identifiers.org/clinvar/331025 ^@ NM_005270.4(GLI2):c.*1628G>T http://identifiers.org/clinvar/331029 ^@ NM_005270.4(GLI2):c.*1837_*1840dupATCT http://identifiers.org/clinvar/331030 ^@ NM_005270.4(GLI2):c.*1888T>G http://identifiers.org/clinvar/333049 ^@ NM_000090.3(COL3A1):c.432C>T (p.Cys144=) http://identifiers.org/clinvar/333050 ^@ NM_000090.3(COL3A1):c.529-5T>G http://identifiers.org/clinvar/333056 ^@ NM_000090.3(COL3A1):c.1762-11T>G http://identifiers.org/clinvar/333792 ^@ NM_014929.3(FASTKD2):c.-127G>C http://identifiers.org/clinvar/331212 ^@ NM_002299.3(LCT):c.319G>A (p.Glu107Lys) http://identifiers.org/clinvar/333795 ^@ NM_014929.3(FASTKD2):c.-88G>A http://identifiers.org/clinvar/331032 ^@ NM_139343.2(BIN1):c.*501G>A http://identifiers.org/clinvar/333800 ^@ NM_014929.3(FASTKD2):c.44G>A (p.Ser15Asn) http://identifiers.org/clinvar/333801 ^@ NM_014929.3(FASTKD2):c.225A>G (p.Arg75=) http://identifiers.org/clinvar/333060 ^@ NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) http://identifiers.org/clinvar/331213 ^@ NM_002299.3(LCT):c.318C>T (p.Asp106=) http://identifiers.org/clinvar/331218 ^@ NM_000547.5(TPO):c.12C>T (p.Leu4=) http://identifiers.org/clinvar/333062 ^@ NM_000090.3(COL3A1):c.2714C>T (p.Pro905Leu) http://identifiers.org/clinvar/333068 ^@ NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) http://identifiers.org/clinvar/333070 ^@ NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) http://identifiers.org/clinvar/333088 ^@ NM_000090.3(COL3A1):c.*692G>A http://identifiers.org/clinvar/331220 ^@ NM_000547.5(TPO):c.94+13C>T http://identifiers.org/clinvar/333090 ^@ NM_000090.3(COL3A1):c.*818T>C http://identifiers.org/clinvar/333092 ^@ NM_000090.3(COL3A1):c.*947C>T http://identifiers.org/clinvar/333804 ^@ NM_014929.3(FASTKD2):c.991-13G>C http://identifiers.org/clinvar/331037 ^@ NM_139343.2(BIN1):c.*243T>G http://identifiers.org/clinvar/333807 ^@ NM_014929.3(FASTKD2):c.1992A>C (p.Ala664=) http://identifiers.org/clinvar/331041 ^@ NM_139343.2(BIN1):c.*55G>A http://identifiers.org/clinvar/331044 ^@ NM_139343.2(BIN1):c.1479C>T (p.Val493=) http://identifiers.org/clinvar/331054 ^@ NM_139343.2(BIN1):c.679C>G (p.Leu227Val) http://identifiers.org/clinvar/331224 ^@ NM_000547.5(TPO):c.443C>T (p.Ala148Val) http://identifiers.org/clinvar/333094 ^@ NM_000393.4(COL5A2):c.*2062G>A http://identifiers.org/clinvar/333810 ^@ NM_014929.3(FASTKD2):c.*58G>A http://identifiers.org/clinvar/333817 ^@ NM_014929.3(FASTKD2):c.*624C>G http://identifiers.org/clinvar/331059 ^@ NM_139343.2(BIN1):c.-114delG http://identifiers.org/clinvar/331061 ^@ NM_139343.2(BIN1):c.-177_-174dupGGCT http://identifiers.org/clinvar/333095 ^@ NM_000393.4(COL5A2):c.*1970T>G http://identifiers.org/clinvar/333820 ^@ NM_014929.3(FASTKD2):c.*1010T>C http://identifiers.org/clinvar/333827 ^@ NM_014929.3(FASTKD2):c.*1335G>T http://identifiers.org/clinvar/333103 ^@ NM_000393.4(COL5A2):c.*1668C>G http://identifiers.org/clinvar/333104 ^@ NM_000393.4(COL5A2):c.*1465G>T http://identifiers.org/clinvar/333105 ^@ NM_000393.4(COL5A2):c.*1460A>T http://identifiers.org/clinvar/331229 ^@ NM_014795.3(ZEB2):c.*4844_*4845dupAA http://identifiers.org/clinvar/333109 ^@ NM_000393.4(COL5A2):c.*1165G>A http://identifiers.org/clinvar/333110 ^@ NM_000393.4(COL5A2):c.*1076G>A http://identifiers.org/clinvar/331062 ^@ NM_139343.2(BIN1):c.-192G>A http://identifiers.org/clinvar/333828 ^@ NM_014929.3(FASTKD2):c.*1345G>A http://identifiers.org/clinvar/333845 ^@ NM_014929.3(FASTKD2):c.*2488T>C http://identifiers.org/clinvar/331064 ^@ NM_139343.2(BIN1):c.-214T>G http://identifiers.org/clinvar/331074 ^@ NM_000122.1(ERCC3):c.2106G>A (p.Ala702=) http://identifiers.org/clinvar/333111 ^@ NM_000393.4(COL5A2):c.*904A>C http://identifiers.org/clinvar/333113 ^@ NM_000393.4(COL5A2):c.*798A>G http://identifiers.org/clinvar/331230 ^@ NM_014795.3(ZEB2):c.*4845delA http://identifiers.org/clinvar/333115 ^@ NM_000393.4(COL5A2):c.*696_*697delTA http://identifiers.org/clinvar/333116 ^@ NM_000393.4(COL5A2):c.*639G>A http://identifiers.org/clinvar/331231 ^@ NM_014795.3(ZEB2):c.*4603T>C http://identifiers.org/clinvar/333118 ^@ NM_000393.4(COL5A2):c.*589_*590delAA http://identifiers.org/clinvar/331076 ^@ NM_000122.1(ERCC3):c.2080G>A (p.Ala694Thr) http://identifiers.org/clinvar/331235 ^@ NM_014795.3(ZEB2):c.*4250G>A http://identifiers.org/clinvar/331236 ^@ NM_014795.3(ZEB2):c.*3955A>G http://identifiers.org/clinvar/333117 ^@ NM_000393.4(COL5A2):c.*590dupA http://identifiers.org/clinvar/333122 ^@ NM_000393.4(COL5A2):c.*423C>T http://identifiers.org/clinvar/333128 ^@ NM_000393.4(COL5A2):c.*126A>G http://identifiers.org/clinvar/333850 ^@ NM_014929.3(FASTKD2):c.*3080C>A http://identifiers.org/clinvar/331078 ^@ NM_000122.1(ERCC3):c.1731-11T>C http://identifiers.org/clinvar/333852 ^@ NM_014929.3(FASTKD2):c.*3238G>A http://identifiers.org/clinvar/331079 ^@ NM_000122.1(ERCC3):c.1485G>A (p.Glu495=) http://identifiers.org/clinvar/331081 ^@ NM_000122.1(ERCC3):c.1156G>A (p.Asp386Asn) http://identifiers.org/clinvar/331082 ^@ NM_000122.1(ERCC3):c.1155C>T (p.Asp385=) http://identifiers.org/clinvar/331238 ^@ NM_014795.3(ZEB2):c.*3589A>G http://identifiers.org/clinvar/331084 ^@ NM_000122.1(ERCC3):c.1078C>T (p.Arg360Cys) http://identifiers.org/clinvar/333853 ^@ NM_014929.3(FASTKD2):c.*3355C>T http://identifiers.org/clinvar/331085 ^@ NM_000122.1(ERCC3):c.1027+3A>G http://identifiers.org/clinvar/333856 ^@ NM_014929.3(FASTKD2):c.*3592C>T http://identifiers.org/clinvar/333857 ^@ NM_014929.3(FASTKD2):c.*3593G>A http://identifiers.org/clinvar/333141 ^@ NM_000393.4(COL5A2):c.2499+10A>G http://identifiers.org/clinvar/333858 ^@ NM_014929.3(FASTKD2):c.*3683G>T http://identifiers.org/clinvar/333158 ^@ NM_014585.5(SLC40A1):c.*309G>A http://identifiers.org/clinvar/333162 ^@ NM_014585.5(SLC40A1):c.1570G>A (p.Val524Ile) http://identifiers.org/clinvar/333166 ^@ NM_014585.5(SLC40A1):c.760+14A>G http://identifiers.org/clinvar/333168 ^@ NM_014585.5(SLC40A1):c.609C>T (p.Ile203=) http://identifiers.org/clinvar/333169 ^@ NM_014585.5(SLC40A1):c.388-14T>A http://identifiers.org/clinvar/333859 ^@ NM_014929.3(FASTKD2):c.*3710C>T http://identifiers.org/clinvar/331086 ^@ NM_000122.1(ERCC3):c.1026C>T (p.Cys342=) http://identifiers.org/clinvar/333870 ^@ NM_006891.3(CRYGD):c.295A>G (p.Arg99Gly) http://identifiers.org/clinvar/331240 ^@ NM_014795.3(ZEB2):c.*3444G>A http://identifiers.org/clinvar/331241 ^@ NM_014795.3(ZEB2):c.*3357C>G http://identifiers.org/clinvar/333170 ^@ NM_014585.5(SLC40A1):c.387C>T (p.Leu129=) http://identifiers.org/clinvar/333872 ^@ NM_006891.3(CRYGD):c.252+10T>A http://identifiers.org/clinvar/333171 ^@ NM_014585.5(SLC40A1):c.327C>T (p.Ile109=) http://identifiers.org/clinvar/331246 ^@ NM_014795.3(ZEB2):c.*3039C>G http://identifiers.org/clinvar/333176 ^@ NM_014585.5(SLC40A1):c.-31C>G http://identifiers.org/clinvar/333876 ^@ NM_006891.3(CRYGD):c.10-7C>G http://identifiers.org/clinvar/331247 ^@ NM_014795.3(ZEB2):c.*3025A>G http://identifiers.org/clinvar/333878 ^@ NM_006891.3(CRYGD):c.-40C>T http://identifiers.org/clinvar/331252 ^@ NM_014795.3(ZEB2):c.*2734C>T http://identifiers.org/clinvar/331256 ^@ NM_014795.3(ZEB2):c.*2525dupG http://identifiers.org/clinvar/333177 ^@ NM_014585.5(SLC40A1):c.-201T>G http://identifiers.org/clinvar/333881 ^@ NM_015040.3(PIKFYVE):c.-157A>T http://identifiers.org/clinvar/333178 ^@ NM_014585.5(SLC40A1):c.-253C>A http://identifiers.org/clinvar/331263 ^@ NM_014795.3(ZEB2):c.*2396_*2397insGT http://identifiers.org/clinvar/333882 ^@ NM_015040.3(PIKFYVE):c.-10+5G>A http://identifiers.org/clinvar/333883 ^@ NM_015040.3(PIKFYVE):c.37T>C (p.Ser13Pro) http://identifiers.org/clinvar/331087 ^@ NM_000122.1(ERCC3):c.822+14C>T http://identifiers.org/clinvar/333179 ^@ NM_014585.5(SLC40A1):c.-312_-310dupCGG http://identifiers.org/clinvar/331269 ^@ NM_014795.3(ZEB2):c.*1992T>C http://identifiers.org/clinvar/331276 ^@ NM_014795.3(ZEB2):c.*1839A>G http://identifiers.org/clinvar/331094 ^@ NM_000122.1(ERCC3):c.254T>G (p.Phe85Cys) http://identifiers.org/clinvar/333186 ^@ NM_000534.4(PMS1):c.-320C>T http://identifiers.org/clinvar/331095 ^@ NM_000122.1(ERCC3):c.29-15G>T http://identifiers.org/clinvar/333889 ^@ NM_015040.3(PIKFYVE):c.1522G>C (p.Asp508His) http://identifiers.org/clinvar/333892 ^@ NM_015040.3(PIKFYVE):c.1770C>T (p.Asn590=) http://identifiers.org/clinvar/331098 ^@ NM_000122.1(ERCC3):c.-69C>T http://identifiers.org/clinvar/331102 ^@ NM_000312.3(PROC):c.66T>C (p.Pro22=) http://identifiers.org/clinvar/331103 ^@ NM_000312.3(PROC):c.399C>T (p.Arg133=) http://identifiers.org/clinvar/331282 ^@ NM_014795.3(ZEB2):c.*1499A>G http://identifiers.org/clinvar/333893 ^@ NM_015040.3(PIKFYVE):c.1849A>G (p.Met617Val) http://identifiers.org/clinvar/331285 ^@ NM_014795.3(ZEB2):c.*1256G>A http://identifiers.org/clinvar/331293 ^@ NM_014795.3(ZEB2):c.*496A>G http://identifiers.org/clinvar/331298 ^@ NM_014795.3(ZEB2):c.3640A>G (p.Met1214Val) http://identifiers.org/clinvar/333195 ^@ NM_000534.4(PMS1):c.-120G>A http://identifiers.org/clinvar/333197 ^@ NM_000534.4(PMS1):c.-99G>T http://identifiers.org/clinvar/331299 ^@ NM_014795.3(ZEB2):c.3204C>G (p.Gly1068=) http://identifiers.org/clinvar/331306 ^@ NM_000547.5(TPO):c.491C>A (p.Pro164His) http://identifiers.org/clinvar/333199 ^@ NM_000534.4(PMS1):c.-24G>C http://identifiers.org/clinvar/333210 ^@ NM_000534.4(PMS1):c.1974C>T (p.Ser658=) http://identifiers.org/clinvar/331310 ^@ NM_000547.5(TPO):c.650A>G (p.Asn217Ser) http://identifiers.org/clinvar/331312 ^@ NM_000547.5(TPO):c.819A>G (p.Gln273=) http://identifiers.org/clinvar/331314 ^@ NM_000547.5(TPO):c.1032C>G (p.Thr344=) http://identifiers.org/clinvar/331106 ^@ NM_000312.3(PROC):c.630G>A (p.Pro210=) http://identifiers.org/clinvar/333895 ^@ NM_015040.3(PIKFYVE):c.1946G>A (p.Arg649Gln) http://identifiers.org/clinvar/331113 ^@ NM_000312.3(PROC):c.1318C>T (p.Arg440Cys) http://identifiers.org/clinvar/331316 ^@ NM_000547.5(TPO):c.1294G>A (p.Ala432Thr) http://identifiers.org/clinvar/331116 ^@ NM_000312.3(PROC):c.*220G>C http://identifiers.org/clinvar/331320 ^@ NM_018328.4(MBD5):c.-829A>G http://identifiers.org/clinvar/331120 ^@ NM_012233.2(RAB3GAP1):c.393C>T (p.Ala131=) http://identifiers.org/clinvar/333212 ^@ NM_000534.4(PMS1):c.2474-7C>A http://identifiers.org/clinvar/333216 ^@ NM_005259.2(MSTN):c.*1450T>C http://identifiers.org/clinvar/333221 ^@ NM_005259.2(MSTN):c.*1073G>T http://identifiers.org/clinvar/331123 ^@ NM_012233.2(RAB3GAP1):c.1048T>C (p.Phe350Leu) http://identifiers.org/clinvar/331324 ^@ NM_018328.4(MBD5):c.-573T>A http://identifiers.org/clinvar/331124 ^@ NM_012233.2(RAB3GAP1):c.1079T>C (p.Ile360Thr) http://identifiers.org/clinvar/333896 ^@ NM_015040.3(PIKFYVE):c.1983C>A (p.Ile661=) http://identifiers.org/clinvar/333897 ^@ NM_015040.3(PIKFYVE):c.2087G>A (p.Ser696Asn) http://identifiers.org/clinvar/331127 ^@ NM_012233.2(RAB3GAP1):c.1307C>T (p.Pro436Leu) http://identifiers.org/clinvar/331134 ^@ NM_012233.2(RAB3GAP1):c.*174T>C http://identifiers.org/clinvar/333222 ^@ NM_005259.2(MSTN):c.*923T>C http://identifiers.org/clinvar/333908 ^@ NM_015040.3(PIKFYVE):c.2895G>A (p.Ala965=) http://identifiers.org/clinvar/333225 ^@ NM_005259.2(MSTN):c.*574G>A http://identifiers.org/clinvar/331135 ^@ NM_012233.2(RAB3GAP1):c.*201T>G http://identifiers.org/clinvar/333227 ^@ NM_005259.2(MSTN):c.*395A>C http://identifiers.org/clinvar/333912 ^@ NM_015040.3(PIKFYVE):c.3114A>G (p.Arg1038=) http://identifiers.org/clinvar/333916 ^@ NM_015040.3(PIKFYVE):c.3511G>A (p.Ala1171Thr) http://identifiers.org/clinvar/331333 ^@ NM_018328.4(MBD5):c.1602T>C (p.Asn534=) http://identifiers.org/clinvar/331349 ^@ NM_018328.4(MBD5):c.*162dupT http://identifiers.org/clinvar/333917 ^@ NM_015040.3(PIKFYVE):c.3547C>A (p.Gln1183Lys) http://identifiers.org/clinvar/333918 ^@ NM_015040.3(PIKFYVE):c.3564T>C (p.Asn1188=) http://identifiers.org/clinvar/333924 ^@ NM_015040.3(PIKFYVE):c.4774G>A (p.Gly1592Arg) http://identifiers.org/clinvar/331350 ^@ NM_018328.4(MBD5):c.*200A>G http://identifiers.org/clinvar/333930 ^@ NM_015040.3(PIKFYVE):c.5334G>A (p.Thr1778=) http://identifiers.org/clinvar/331355 ^@ NM_018328.4(MBD5):c.*405C>T http://identifiers.org/clinvar/331371 ^@ NM_015702.2(MMADHC):c.*241A>G http://identifiers.org/clinvar/331382 ^@ NM_015702.2(MMADHC):c.244T>G (p.Cys82Gly) http://identifiers.org/clinvar/331139 ^@ NM_012233.2(RAB3GAP1):c.*303G>A http://identifiers.org/clinvar/333932 ^@ NM_015040.3(PIKFYVE):c.5397A>G (p.Thr1799=) http://identifiers.org/clinvar/331385 ^@ NM_015702.2(MMADHC):c.-16A>G http://identifiers.org/clinvar/333933 ^@ NM_015040.3(PIKFYVE):c.5511T>C (p.Ile1837=) http://identifiers.org/clinvar/331369 ^@ NM_000547.5(TPO):c.2306G>A (p.Arg769Gln) http://identifiers.org/clinvar/331398 ^@ NM_004543.4(NEB):c.*57C>T http://identifiers.org/clinvar/333230 ^@ NM_005259.2(MSTN):c.*259A>G http://identifiers.org/clinvar/333934 ^@ NM_015040.3(PIKFYVE):c.5526A>G (p.Glu1842=) http://identifiers.org/clinvar/333235 ^@ NM_005259.2(MSTN):c.748-3C>T http://identifiers.org/clinvar/331400 ^@ NM_004543.4(NEB):c.19996G>A (p.Val6666Ile) http://identifiers.org/clinvar/333943 ^@ NM_015040.3(PIKFYVE):c.*240C>T http://identifiers.org/clinvar/333952 ^@ NM_015040.3(PIKFYVE):c.*1001G>T http://identifiers.org/clinvar/331142 ^@ NM_012233.2(RAB3GAP1):c.*404C>T http://identifiers.org/clinvar/331143 ^@ NM_012233.2(RAB3GAP1):c.*547A>G http://identifiers.org/clinvar/331145 ^@ NM_012233.2(RAB3GAP1):c.*995T>C http://identifiers.org/clinvar/333237 ^@ NM_005259.2(MSTN):c.551C>T (p.Thr184Ile) http://identifiers.org/clinvar/333239 ^@ NM_005259.2(MSTN):c.466C>A (p.Leu156Ile) http://identifiers.org/clinvar/333956 ^@ NM_015040.3(PIKFYVE):c.*1262T>G http://identifiers.org/clinvar/333244 ^@ NM_005259.2(MSTN):c.-17A>C http://identifiers.org/clinvar/333963 ^@ NM_015040.3(PIKFYVE):c.*1973_*1974insA http://identifiers.org/clinvar/333252 ^@ NM_007315.3(STAT1):c.*942A>G http://identifiers.org/clinvar/333254 ^@ NM_007315.3(STAT1):c.*921G>C http://identifiers.org/clinvar/331157 ^@ NM_002299.3(LCT):c.*251G>A http://identifiers.org/clinvar/333264 ^@ NM_007315.3(STAT1):c.1874-8C>T http://identifiers.org/clinvar/333966 ^@ NM_015040.3(PIKFYVE):c.*2143G>C http://identifiers.org/clinvar/333968 ^@ NM_015040.3(PIKFYVE):c.*2185C>G http://identifiers.org/clinvar/333270 ^@ NM_007315.3(STAT1):c.1683C>T (p.Ile561=) http://identifiers.org/clinvar/331160 ^@ NM_002299.3(LCT):c.*10A>C http://identifiers.org/clinvar/331404 ^@ NM_004543.4(NEB):c.19539A>G (p.Pro6513=) http://identifiers.org/clinvar/333969 ^@ NM_015040.3(PIKFYVE):c.*2218A>T http://identifiers.org/clinvar/331408 ^@ NM_004543.4(NEB):c.19072A>G (p.Arg6358Gly) http://identifiers.org/clinvar/333971 ^@ NM_015040.3(PIKFYVE):c.*2281delG http://identifiers.org/clinvar/333979 ^@ NM_015040.3(PIKFYVE):c.*3099_*3100insGTTTTTTTT http://identifiers.org/clinvar/331161 ^@ NM_002299.3(LCT):c.5771T>C (p.Val1924Ala) http://identifiers.org/clinvar/333983 ^@ NM_015040.3(PIKFYVE):c.*3324A>G http://identifiers.org/clinvar/333278 ^@ NM_007315.3(STAT1):c.1222-9G>T http://identifiers.org/clinvar/331413 ^@ NM_004543.4(NEB):c.18024+2T>C http://identifiers.org/clinvar/331163 ^@ NM_002299.3(LCT):c.5656G>A (p.Val1886Ile) http://identifiers.org/clinvar/331166 ^@ NM_002299.3(LCT):c.5493C>T (p.Tyr1831=) http://identifiers.org/clinvar/331177 ^@ NM_002299.3(LCT):c.4239A>G (p.Pro1413=) http://identifiers.org/clinvar/331181 ^@ NM_002299.3(LCT):c.3986C>T (p.Thr1329Met) http://identifiers.org/clinvar/331185 ^@ NM_002299.3(LCT):c.3595G>A (p.Ala1199Thr) http://identifiers.org/clinvar/334057 ^@ NM_000384.2(APOB):c.*229A>G http://identifiers.org/clinvar/333279 ^@ NM_007315.3(STAT1):c.1155G>A (p.Thr385=) http://identifiers.org/clinvar/331186 ^@ NM_002299.3(LCT):c.3532C>T (p.Leu1178=) http://identifiers.org/clinvar/331187 ^@ NM_002299.3(LCT):c.3390G>A (p.Glu1130=) http://identifiers.org/clinvar/331416 ^@ NM_004543.4(NEB):c.17574A>T (p.Thr5858=) http://identifiers.org/clinvar/333280 ^@ NM_007315.3(STAT1):c.1127+10G>A http://identifiers.org/clinvar/333292 ^@ NM_007315.3(STAT1):c.186A>G (p.Ser62=) http://identifiers.org/clinvar/331194 ^@ NM_002299.3(LCT):c.2760C>T (p.Gly920=) http://identifiers.org/clinvar/333299 ^@ NM_007315.3(STAT1):c.-320C>T http://identifiers.org/clinvar/333300 ^@ NM_007315.3(STAT1):c.-328C>T http://identifiers.org/clinvar/331426 ^@ NM_004543.4(NEB):c.16238G>A (p.Arg5413Gln) http://identifiers.org/clinvar/331196 ^@ NM_002299.3(LCT):c.2457C>T (p.His819=) http://identifiers.org/clinvar/331203 ^@ NM_002299.3(LCT):c.1396G>T (p.Gly466Trp) http://identifiers.org/clinvar/334060 ^@ NM_000384.2(APOB):c.*179C>T http://identifiers.org/clinvar/331432 ^@ NM_004543.4(NEB):c.15364-5_15364-4dupTT http://identifiers.org/clinvar/333309 ^@ NM_002156.4(HSPD1):c.859G>A (p.Val287Ile) http://identifiers.org/clinvar/331435 ^@ NM_004543.4(NEB):c.15125G>A (p.Arg5042His) http://identifiers.org/clinvar/331443 ^@ NM_004543.4(NEB):c.14619A>G (p.Leu4873=) http://identifiers.org/clinvar/331445 ^@ NM_004543.4(NEB):c.14583T>G (p.Thr4861=) http://identifiers.org/clinvar/334064 ^@ NM_000384.2(APOB):c.*11G>T http://identifiers.org/clinvar/333312 ^@ NM_002156.4(HSPD1):c.428-15A>G http://identifiers.org/clinvar/333313 ^@ NM_002156.4(HSPD1):c.18A>G (p.Thr6=) http://identifiers.org/clinvar/333316 ^@ NM_002156.4(HSPD1):c.-128C>G http://identifiers.org/clinvar/334065 ^@ NM_000384.2(APOB):c.13659G>T (p.Lys4553Asn) http://identifiers.org/clinvar/333323 ^@ NM_001006657.1(WDR35):c.*2962C>T http://identifiers.org/clinvar/334066 ^@ NM_000384.2(APOB):c.13654A>G (p.Met4552Val) http://identifiers.org/clinvar/334068 ^@ NM_000384.2(APOB):c.13589C>T (p.Thr4530Ile) http://identifiers.org/clinvar/333324 ^@ NM_001006657.1(WDR35):c.*2957G>A http://identifiers.org/clinvar/331463 ^@ NM_004543.4(NEB):c.12532-3dupT http://identifiers.org/clinvar/331474 ^@ NM_004543.4(NEB):c.10436G>A (p.Arg3479Gln) http://identifiers.org/clinvar/333337 ^@ NM_001006657.1(WDR35):c.*2341G>C http://identifiers.org/clinvar/334069 ^@ NM_000384.2(APOB):c.13444A>G (p.Ile4482Val) http://identifiers.org/clinvar/333338 ^@ NM_001006657.1(WDR35):c.*2288C>T http://identifiers.org/clinvar/331497 ^@ NM_004543.4(NEB):c.6369G>A (p.Thr2123=) http://identifiers.org/clinvar/331503 ^@ NM_004543.4(NEB):c.5656G>A (p.Glu1886Lys) http://identifiers.org/clinvar/333339 ^@ NM_001006657.1(WDR35):c.*2033_*2036delGTCT http://identifiers.org/clinvar/334070 ^@ NM_000384.2(APOB):c.13302C>T (p.Ser4434=) http://identifiers.org/clinvar/333342 ^@ NM_001006657.1(WDR35):c.*1668A>C http://identifiers.org/clinvar/333344 ^@ NM_001006657.1(WDR35):c.*1575_*1576dupCC http://identifiers.org/clinvar/334071 ^@ NM_000384.2(APOB):c.13183G>A (p.Gly4395Ser) http://identifiers.org/clinvar/334075 ^@ NM_000384.2(APOB):c.12807T>C (p.Tyr4269=) http://identifiers.org/clinvar/334082 ^@ NM_000384.2(APOB):c.12137G>A (p.Arg4046Gln) http://identifiers.org/clinvar/333346 ^@ NM_001006657.1(WDR35):c.*1479C>T http://identifiers.org/clinvar/334087 ^@ NM_000384.2(APOB):c.11929A>C (p.Asn3977His) http://identifiers.org/clinvar/334096 ^@ NM_000384.2(APOB):c.11563A>G (p.Ile3855Val) http://identifiers.org/clinvar/331505 ^@ NM_004543.4(NEB):c.5411C>A (p.Ala1804Glu) http://identifiers.org/clinvar/331514 ^@ NM_004543.4(NEB):c.3826C>A (p.Pro1276Thr) http://identifiers.org/clinvar/334103 ^@ NM_000384.2(APOB):c.11257T>C (p.Phe3753Leu) http://identifiers.org/clinvar/331521 ^@ NM_004543.4(NEB):c.3399A>G (p.Thr1133=) http://identifiers.org/clinvar/334106 ^@ NM_000384.2(APOB):c.10575C>T (p.Ser3525=) http://identifiers.org/clinvar/331522 ^@ NM_004543.4(NEB):c.3094C>T (p.Pro1032Ser) http://identifiers.org/clinvar/331206 ^@ NM_002299.3(LCT):c.729C>G (p.Val243=) http://identifiers.org/clinvar/334112 ^@ NM_000384.2(APOB):c.9491C>T (p.Thr3164Met) http://identifiers.org/clinvar/333348 ^@ NM_001006657.1(WDR35):c.*1270C>T http://identifiers.org/clinvar/333361 ^@ NM_001006657.1(WDR35):c.*573A>T http://identifiers.org/clinvar/333362 ^@ NM_001006657.1(WDR35):c.*563T>G http://identifiers.org/clinvar/331525 ^@ NM_004543.4(NEB):c.2739C>T (p.Ser913=) http://identifiers.org/clinvar/334113 ^@ NM_000384.2(APOB):c.9477G>A (p.Lys3159=) http://identifiers.org/clinvar/331214 ^@ NM_002299.3(LCT):c.54G>C (p.Trp18Cys) http://identifiers.org/clinvar/331395 ^@ NM_000547.5(TPO):c.2524G>A (p.Gly842Arg) http://identifiers.org/clinvar/333369 ^@ NM_001006657.1(WDR35):c.3312G>C (p.Gln1104His) http://identifiers.org/clinvar/333373 ^@ NM_001006657.1(WDR35):c.3017G>T (p.Gly1006Val) http://identifiers.org/clinvar/331396 ^@ NM_000547.5(TPO):c.2538G>C (p.Arg846=) http://identifiers.org/clinvar/331216 ^@ NM_000547.5(TPO):c.-2+14T>C http://identifiers.org/clinvar/331528 ^@ NM_004543.4(NEB):c.2250G>A (p.Thr750=) http://identifiers.org/clinvar/334123 ^@ NM_000384.2(APOB):c.7939A>C (p.Thr2647Pro) http://identifiers.org/clinvar/331530 ^@ NM_004543.4(NEB):c.1981C>T (p.Leu661=) http://identifiers.org/clinvar/331222 ^@ NM_000547.5(TPO):c.180-6C>A http://identifiers.org/clinvar/334135 ^@ NM_000384.2(APOB):c.5600G>A (p.Arg1867Gln) http://identifiers.org/clinvar/331227 ^@ NM_014795.3(ZEB2):c.*4848C>A http://identifiers.org/clinvar/334138 ^@ NM_000384.2(APOB):c.4968A>T (p.Ala1656=) http://identifiers.org/clinvar/333377 ^@ NM_001006657.1(WDR35):c.2711T>C (p.Leu904Ser) http://identifiers.org/clinvar/331533 ^@ NM_004543.4(NEB):c.1365+14C>A http://identifiers.org/clinvar/334141 ^@ NM_000384.2(APOB):c.4656T>C (p.Ser1552=) http://identifiers.org/clinvar/334144 ^@ NM_000384.2(APOB):c.4365C>T (p.Phe1455=) http://identifiers.org/clinvar/331232 ^@ NM_014795.3(ZEB2):c.*4349A>G http://identifiers.org/clinvar/331237 ^@ NM_014795.3(ZEB2):c.*3932A>G http://identifiers.org/clinvar/334146 ^@ NM_000384.2(APOB):c.4163G>A (p.Arg1388His) http://identifiers.org/clinvar/334153 ^@ NM_000384.2(APOB):c.3509-11C>T http://identifiers.org/clinvar/334155 ^@ NM_000384.2(APOB):c.3426G>A (p.Ser1142=) http://identifiers.org/clinvar/333378 ^@ NM_001006657.1(WDR35):c.2632G>A (p.Ala878Thr) http://identifiers.org/clinvar/333379 ^@ NM_001006657.1(WDR35):c.2548A>G (p.Ile850Val) http://identifiers.org/clinvar/333380 ^@ NM_001006657.1(WDR35):c.2525A>G (p.Tyr842Cys) http://identifiers.org/clinvar/333389 ^@ NM_001006657.1(WDR35):c.1786G>A (p.Val596Ile) http://identifiers.org/clinvar/333390 ^@ NM_001006657.1(WDR35):c.1730C>T (p.Thr577Met) http://identifiers.org/clinvar/331243 ^@ NM_014795.3(ZEB2):c.*3186C>G http://identifiers.org/clinvar/333395 ^@ NM_001006657.1(WDR35):c.1226C>T (p.Thr409Met) http://identifiers.org/clinvar/331244 ^@ NM_014795.3(ZEB2):c.*3095T>G http://identifiers.org/clinvar/334157 ^@ NM_000384.2(APOB):c.3331A>C (p.Ser1111Arg) http://identifiers.org/clinvar/334159 ^@ NM_000384.2(APOB):c.3165G>T (p.Arg1055=) http://identifiers.org/clinvar/331253 ^@ NM_014795.3(ZEB2):c.*2569A>G http://identifiers.org/clinvar/333986 ^@ NM_001608.3(ACADL):c.*724T>C http://identifiers.org/clinvar/331535 ^@ NM_004543.4(NEB):c.1227C>G (p.Leu409=) http://identifiers.org/clinvar/331539 ^@ NM_004543.4(NEB):c.780A>G (p.Pro260=) http://identifiers.org/clinvar/333396 ^@ NM_001006657.1(WDR35):c.1089G>A (p.Thr363=) http://identifiers.org/clinvar/331545 ^@ NM_004543.4(NEB):c.-114+3A>G http://identifiers.org/clinvar/333409 ^@ NM_002381.4(MATN3):c.*660G>A http://identifiers.org/clinvar/333410 ^@ NM_002381.4(MATN3):c.*176C>T http://identifiers.org/clinvar/331547 ^@ NM_000726.4(CACNB4):c.*6183A>G http://identifiers.org/clinvar/333987 ^@ NM_001608.3(ACADL):c.*711G>A http://identifiers.org/clinvar/333998 ^@ NM_001608.3(ACADL):c.374C>T (p.Ala125Val) http://identifiers.org/clinvar/331548 ^@ NM_000726.4(CACNB4):c.*6140G>T http://identifiers.org/clinvar/331568 ^@ NM_000726.4(CACNB4):c.*4771G>A http://identifiers.org/clinvar/331569 ^@ NM_000726.4(CACNB4):c.*4570T>C http://identifiers.org/clinvar/331571 ^@ NM_000726.4(CACNB4):c.*4145T>C http://identifiers.org/clinvar/331581 ^@ NM_000726.4(CACNB4):c.*2885T>C http://identifiers.org/clinvar/333411 ^@ NM_002381.4(MATN3):c.*44C>G http://identifiers.org/clinvar/333423 ^@ NM_002381.4(MATN3):c.664G>A (p.Val222Met) http://identifiers.org/clinvar/333425 ^@ NM_002381.4(MATN3):c.354C>T (p.Ala118=) http://identifiers.org/clinvar/331589 ^@ NM_000726.4(CACNB4):c.*2188delT http://identifiers.org/clinvar/333426 ^@ NM_002381.4(MATN3):c.349C>T (p.Pro117Ser) http://identifiers.org/clinvar/333428 ^@ NM_002381.4(MATN3):c.279C>T (p.Ser93=) http://identifiers.org/clinvar/333412 ^@ NM_032977.3(CASP10):c.-360T>C http://identifiers.org/clinvar/333418 ^@ NM_032977.3(CASP10):c.177A>G (p.Ser59=) http://identifiers.org/clinvar/331606 ^@ NM_000726.4(CACNB4):c.*1501delA http://identifiers.org/clinvar/331609 ^@ NM_000726.4(CACNB4):c.*1186G>T http://identifiers.org/clinvar/331614 ^@ NM_000726.4(CACNB4):c.*890G>C http://identifiers.org/clinvar/333999 ^@ NM_001608.3(ACADL):c.253G>A (p.Val85Ile) http://identifiers.org/clinvar/334002 ^@ NM_001608.3(ACADL):c.94G>A (p.Gly32Arg) http://identifiers.org/clinvar/331262 ^@ NM_014795.3(ZEB2):c.*2404_*2405delTA http://identifiers.org/clinvar/334003 ^@ NM_001608.3(ACADL):c.86A>G (p.His29Arg) http://identifiers.org/clinvar/331621 ^@ NM_000726.4(CACNB4):c.*592T>C http://identifiers.org/clinvar/333436 ^@ NM_032977.3(CASP10):c.1316G>T (p.Gly439Val) http://identifiers.org/clinvar/331264 ^@ NM_014795.3(ZEB2):c.*2389A>G http://identifiers.org/clinvar/331623 ^@ NM_000726.4(CACNB4):c.*454dupA http://identifiers.org/clinvar/331272 ^@ NM_014795.3(ZEB2):c.*1984T>C http://identifiers.org/clinvar/331630 ^@ NM_000726.4(CACNB4):c.1278T>C (p.Tyr426=) http://identifiers.org/clinvar/331279 ^@ NM_014795.3(ZEB2):c.*1770G>A http://identifiers.org/clinvar/333437 ^@ NM_032977.3(CASP10):c.1347T>C (p.Phe449=) http://identifiers.org/clinvar/331280 ^@ NM_014795.3(ZEB2):c.*1704A>G http://identifiers.org/clinvar/334167 ^@ NM_000384.2(APOB):c.2244+3G>A http://identifiers.org/clinvar/334168 ^@ NM_000384.2(APOB):c.2177T>C (p.Val726Ala) http://identifiers.org/clinvar/331283 ^@ NM_014795.3(ZEB2):c.*1405C>A http://identifiers.org/clinvar/331286 ^@ NM_014795.3(ZEB2):c.*1115_*1119delAAGAG http://identifiers.org/clinvar/331287 ^@ NM_014795.3(ZEB2):c.*932A>T http://identifiers.org/clinvar/331295 ^@ NM_014795.3(ZEB2):c.*421C>A http://identifiers.org/clinvar/334170 ^@ NM_000384.2(APOB):c.2160C>T (p.Tyr720=) http://identifiers.org/clinvar/331296 ^@ NM_014795.3(ZEB2):c.*116G>A http://identifiers.org/clinvar/334179 ^@ NM_000384.2(APOB):c.607A>G (p.Ile203Val) http://identifiers.org/clinvar/333439 ^@ NM_032977.3(CASP10):c.1415+8C>G http://identifiers.org/clinvar/333441 ^@ NM_032977.3(CASP10):c.1502C>T (p.Pro501Leu) http://identifiers.org/clinvar/333448 ^@ NM_032977.3(CASP10):c.*333C>T http://identifiers.org/clinvar/331631 ^@ NM_000726.4(CACNB4):c.642T>C (p.Asp214=) http://identifiers.org/clinvar/331634 ^@ NM_000726.4(CACNB4):c.187G>C (p.Asp63His) http://identifiers.org/clinvar/333451 ^@ NM_032977.3(CASP10):c.*665G>A http://identifiers.org/clinvar/331300 ^@ NM_014795.3(ZEB2):c.1410T>C (p.Thr470=) http://identifiers.org/clinvar/331304 ^@ NM_014795.3(ZEB2):c.-205T>C http://identifiers.org/clinvar/333452 ^@ NM_032977.3(CASP10):c.*732T>A http://identifiers.org/clinvar/333454 ^@ NM_032977.3(CASP10):c.*739T>C http://identifiers.org/clinvar/331309 ^@ NM_000547.5(TPO):c.612+15C>T http://identifiers.org/clinvar/334181 ^@ NM_000384.2(APOB):c.581C>T (p.Thr194Met) http://identifiers.org/clinvar/331313 ^@ NM_000547.5(TPO):c.840G>A (p.Pro280=) http://identifiers.org/clinvar/334182 ^@ NM_000384.2(APOB):c.538-9C>T http://identifiers.org/clinvar/334189 ^@ NM_000384.2(APOB):c.129G>C (p.Ala43=) http://identifiers.org/clinvar/334191 ^@ NM_000384.2(APOB):c.-28C>G http://identifiers.org/clinvar/331638 ^@ NM_000547.5(TPO):c.2702C>G (p.Ala901Gly) http://identifiers.org/clinvar/331640 ^@ NM_000547.5(TPO):c.2717C>T (p.Pro906Leu) http://identifiers.org/clinvar/331641 ^@ NM_000547.5(TPO):c.2749-4G>A http://identifiers.org/clinvar/331315 ^@ NM_000547.5(TPO):c.1059C>T (p.His353=) http://identifiers.org/clinvar/334007 ^@ NM_001875.4(CPS1):c.-29T>G http://identifiers.org/clinvar/334009 ^@ NM_001875.4(CPS1):c.5C>T (p.Thr2Met) http://identifiers.org/clinvar/331328 ^@ NM_018328.4(MBD5):c.-224A>T http://identifiers.org/clinvar/331332 ^@ NM_018328.4(MBD5):c.932A>C (p.Lys311Thr) http://identifiers.org/clinvar/331334 ^@ NM_018328.4(MBD5):c.1653A>G (p.Val551=) http://identifiers.org/clinvar/334017 ^@ NM_001875.4(CPS1):c.945C>G (p.Asn315Lys) http://identifiers.org/clinvar/334019 ^@ NM_001875.4(CPS1):c.1021T>G (p.Leu341Val) http://identifiers.org/clinvar/331342 ^@ NM_018328.4(MBD5):c.2974C>A (p.Leu992Ile) http://identifiers.org/clinvar/331352 ^@ NM_018328.4(MBD5):c.*283A>G http://identifiers.org/clinvar/331356 ^@ NM_018328.4(MBD5):c.*526A>T http://identifiers.org/clinvar/331643 ^@ NM_000547.5(TPO):c.*63dupT http://identifiers.org/clinvar/334028 ^@ NM_001875.4(CPS1):c.2749A>G (p.Ile917Val) http://identifiers.org/clinvar/331650 ^@ NM_006186.3(NR4A2):c.*933G>A http://identifiers.org/clinvar/333455 ^@ NM_032977.3(CASP10):c.*815C>T http://identifiers.org/clinvar/333465 ^@ NM_032977.3(CASP10):c.*1593T>C http://identifiers.org/clinvar/331656 ^@ NM_006186.3(NR4A2):c.*192C>G http://identifiers.org/clinvar/333470 ^@ NM_032977.3(CASP10):c.*1955G>A http://identifiers.org/clinvar/331661 ^@ NM_006186.3(NR4A2):c.732C>A (p.Leu244=) http://identifiers.org/clinvar/331359 ^@ NM_000547.5(TPO):c.1899T>C (p.Asp633=) http://identifiers.org/clinvar/331360 ^@ NM_000547.5(TPO):c.1961C>T (p.Ala654Val) http://identifiers.org/clinvar/331377 ^@ NM_015702.2(MMADHC):c.515A>C (p.Lys172Thr) http://identifiers.org/clinvar/331379 ^@ NM_015702.2(MMADHC):c.428G>T (p.Ser143Ile) http://identifiers.org/clinvar/334030 ^@ NM_001875.4(CPS1):c.3141+15delA http://identifiers.org/clinvar/334031 ^@ NM_001875.4(CPS1):c.3481-7G>A http://identifiers.org/clinvar/334032 ^@ NM_001875.4(CPS1):c.3558+7G>A http://identifiers.org/clinvar/333473 ^@ NM_032977.3(CASP10):c.*2289A>C http://identifiers.org/clinvar/334041 ^@ NM_001875.4(CPS1):c.*311A>G http://identifiers.org/clinvar/331662 ^@ NM_006186.3(NR4A2):c.657T>C (p.Ala219=) http://identifiers.org/clinvar/331383 ^@ NM_015702.2(MMADHC):c.87A>C (p.Lys29Asn) http://identifiers.org/clinvar/331386 ^@ NM_015702.2(MMADHC):c.-49T>C http://identifiers.org/clinvar/331389 ^@ NM_015702.2(MMADHC):c.-62G>A http://identifiers.org/clinvar/334043 ^@ NM_001875.4(CPS1):c.*380C>G http://identifiers.org/clinvar/334045 ^@ NM_001875.4(CPS1):c.*438T>G http://identifiers.org/clinvar/333476 ^@ NM_032977.3(CASP10):c.*2594delG http://identifiers.org/clinvar/333478 ^@ NM_032977.3(CASP10):c.*2600G>T http://identifiers.org/clinvar/333479 ^@ NM_032977.3(CASP10):c.*2618G>A http://identifiers.org/clinvar/331392 ^@ NM_000547.5(TPO):c.2436G>A (p.Ala812=) http://identifiers.org/clinvar/333481 ^@ NM_032977.3(CASP10):c.*2757A>G http://identifiers.org/clinvar/333483 ^@ NM_032977.3(CASP10):c.*2844C>T http://identifiers.org/clinvar/331393 ^@ NM_000547.5(TPO):c.2499C>T (p.Asp833=) http://identifiers.org/clinvar/331670 ^@ NM_006186.3(NR4A2):c.-384T>C http://identifiers.org/clinvar/334047 ^@ NM_001875.4(CPS1):c.*739T>G http://identifiers.org/clinvar/334048 ^@ NM_001875.4(CPS1):c.*754T>G http://identifiers.org/clinvar/331672 ^@ NM_001105.4(ACVR1):c.*1036delT http://identifiers.org/clinvar/331675 ^@ NM_001105.4(ACVR1):c.*711A>G http://identifiers.org/clinvar/331676 ^@ NM_001105.4(ACVR1):c.*686T>C http://identifiers.org/clinvar/331680 ^@ NM_001105.4(ACVR1):c.*314A>C http://identifiers.org/clinvar/331689 ^@ NM_001105.4(ACVR1):c.1506C>T (p.Leu502=) http://identifiers.org/clinvar/331397 ^@ NM_004543.4(NEB):c.*264_*265delAG http://identifiers.org/clinvar/334200 ^@ NM_000465.3(BARD1):c.-48T>C http://identifiers.org/clinvar/331401 ^@ NM_004543.4(NEB):c.19846C>T (p.Arg6616Cys) http://identifiers.org/clinvar/334209 ^@ NM_173076.2(ABCA12):c.*720G>C http://identifiers.org/clinvar/334214 ^@ NM_173076.2(ABCA12):c.*485T>C http://identifiers.org/clinvar/333487 ^@ NM_032977.3(CASP10):c.*2986C>T http://identifiers.org/clinvar/331695 ^@ NM_001105.4(ACVR1):c.561G>A (p.Ser187=) http://identifiers.org/clinvar/331403 ^@ NM_004543.4(NEB):c.19597C>T (p.Arg6533Trp) http://identifiers.org/clinvar/331405 ^@ NM_004543.4(NEB):c.19460G>A (p.Arg6487Gln) http://identifiers.org/clinvar/331409 ^@ NM_004543.4(NEB):c.18881T>C (p.Met6294Thr) http://identifiers.org/clinvar/331696 ^@ NM_001105.4(ACVR1):c.543+2dupT http://identifiers.org/clinvar/331415 ^@ NM_004543.4(NEB):c.17747A>G (p.Asp5916Gly) http://identifiers.org/clinvar/334219 ^@ NM_173076.2(ABCA12):c.7597G>A (p.Ala2533Thr) http://identifiers.org/clinvar/331423 ^@ NM_004543.4(NEB):c.16870G>A (p.Glu5624Lys) http://identifiers.org/clinvar/334225 ^@ NM_173076.2(ABCA12):c.6462C>T (p.Tyr2154=) http://identifiers.org/clinvar/331698 ^@ NM_001105.4(ACVR1):c.141C>G (p.His47Gln) http://identifiers.org/clinvar/331701 ^@ NM_001105.4(ACVR1):c.-53C>T http://identifiers.org/clinvar/333491 ^@ NM_032977.3(CASP10):c.*3365A>G http://identifiers.org/clinvar/333493 ^@ NM_032977.3(CASP10):c.*3473T>G http://identifiers.org/clinvar/331702 ^@ NM_001105.4(ACVR1):c.-55C>T http://identifiers.org/clinvar/331710 ^@ NM_021007.2(SCN2A):c.-149_-147delAGA http://identifiers.org/clinvar/334233 ^@ NM_173076.2(ABCA12):c.5592G>A (p.Pro1864=) http://identifiers.org/clinvar/331712 ^@ NM_021007.2(SCN2A):c.-148delG http://identifiers.org/clinvar/333496 ^@ NM_032977.3(CASP10):c.*3835G>A http://identifiers.org/clinvar/334237 ^@ NM_173076.2(ABCA12):c.5354G>C (p.Gly1785Ala) http://identifiers.org/clinvar/333498 ^@ NM_001228.4(CASP8):c.435C>T (p.Ser145=) http://identifiers.org/clinvar/333502 ^@ NM_001228.4(CASP8):c.840A>G (p.Thr280=) http://identifiers.org/clinvar/334238 ^@ NM_173076.2(ABCA12):c.5143A>C (p.Arg1715=) http://identifiers.org/clinvar/334241 ^@ NM_173076.2(ABCA12):c.4782C>T (p.Ala1594=) http://identifiers.org/clinvar/331714 ^@ NM_021007.2(SCN2A):c.-147_-146dupAT http://identifiers.org/clinvar/334242 ^@ NM_173076.2(ABCA12):c.4707C>T (p.Gly1569=) http://identifiers.org/clinvar/333505 ^@ NM_001228.4(CASP8):c.1011G>A (p.Lys337=) http://identifiers.org/clinvar/331425 ^@ NM_004543.4(NEB):c.16316T>C (p.Ile5439Thr) http://identifiers.org/clinvar/334246 ^@ NM_173076.2(ABCA12):c.4125A>G (p.Ser1375=) http://identifiers.org/clinvar/333506 ^@ NM_001228.4(CASP8):c.1089T>C (p.Pro363=) http://identifiers.org/clinvar/333509 ^@ NM_001228.4(CASP8):c.*60C>T http://identifiers.org/clinvar/331427 ^@ NM_004543.4(NEB):c.16106A>G (p.Tyr5369Cys) http://identifiers.org/clinvar/331437 ^@ NM_004543.4(NEB):c.15059T>C (p.Leu5020Pro) http://identifiers.org/clinvar/331446 ^@ NM_004543.4(NEB):c.14494G>A (p.Val4832Ile) http://identifiers.org/clinvar/333510 ^@ NM_001228.4(CASP8):c.*83G>A http://identifiers.org/clinvar/333512 ^@ NM_001228.4(CASP8):c.*99G>A http://identifiers.org/clinvar/331448 ^@ NM_004543.4(NEB):c.14325+8_14325+9insA http://identifiers.org/clinvar/333513 ^@ NM_001228.4(CASP8):c.*122G>C http://identifiers.org/clinvar/334260 ^@ NM_173076.2(ABCA12):c.1923G>C (p.Leu641=) http://identifiers.org/clinvar/331725 ^@ NM_021007.2(SCN2A):c.-143T>C http://identifiers.org/clinvar/334269 ^@ NM_173076.2(ABCA12):c.1287+9T>C http://identifiers.org/clinvar/331723 ^@ NM_021007.2(SCN2A):c.-134dupT http://identifiers.org/clinvar/331449 ^@ NM_004543.4(NEB):c.14325+8C>A http://identifiers.org/clinvar/333514 ^@ NM_001228.4(CASP8):c.*124C>T http://identifiers.org/clinvar/331453 ^@ NM_004543.4(NEB):c.13621A>G (p.Lys4541Glu) http://identifiers.org/clinvar/331727 ^@ NM_021007.2(SCN2A):c.1441G>A (p.Gly481Arg) http://identifiers.org/clinvar/334271 ^@ NM_173076.2(ABCA12):c.1174T>C (p.Ser392Pro) http://identifiers.org/clinvar/334277 ^@ NM_173076.2(ABCA12):c.597G>C (p.Trp199Cys) http://identifiers.org/clinvar/333515 ^@ NM_001228.4(CASP8):c.*175C>T http://identifiers.org/clinvar/333519 ^@ NM_001228.4(CASP8):c.*429A>G http://identifiers.org/clinvar/334278 ^@ NM_173076.2(ABCA12):c.552A>G (p.Leu184=) http://identifiers.org/clinvar/334280 ^@ NM_014140.3(SMARCAL1):c.-218C>T http://identifiers.org/clinvar/333526 ^@ NM_001228.4(CASP8):c.*935_*936dupAT http://identifiers.org/clinvar/331730 ^@ NM_021007.2(SCN2A):c.3043G>A (p.Asp1015Asn) http://identifiers.org/clinvar/331454 ^@ NM_004543.4(NEB):c.13543T>C (p.Phe4515Leu) http://identifiers.org/clinvar/333529 ^@ NM_001044385.2(TMEM237):c.*3728A>G http://identifiers.org/clinvar/334290 ^@ NM_014140.3(SMARCAL1):c.76G>A (p.Glu26Lys) http://identifiers.org/clinvar/333531 ^@ NM_001044385.2(TMEM237):c.*3513delT http://identifiers.org/clinvar/334296 ^@ NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=) http://identifiers.org/clinvar/334301 ^@ NM_014140.3(SMARCAL1):c.2528+15G>A http://identifiers.org/clinvar/333535 ^@ NM_001044385.2(TMEM237):c.*3013A>G http://identifiers.org/clinvar/331734 ^@ NM_021007.2(SCN2A):c.4134C>T (p.Ser1378=) http://identifiers.org/clinvar/331738 ^@ NM_021007.2(SCN2A):c.5364G>A (p.Glu1788=) http://identifiers.org/clinvar/333543 ^@ NM_001044385.2(TMEM237):c.*2142G>C http://identifiers.org/clinvar/334304 ^@ NM_015488.4(PNKD):c.-105A>T http://identifiers.org/clinvar/333549 ^@ NM_001044385.2(TMEM237):c.*1303G>A http://identifiers.org/clinvar/331740 ^@ NM_021007.2(SCN2A):c.5544T>C (p.Ser1848=) http://identifiers.org/clinvar/331744 ^@ NM_021007.2(SCN2A):c.*88G>A http://identifiers.org/clinvar/331748 ^@ NM_021007.2(SCN2A):c.*557G>A http://identifiers.org/clinvar/334309 ^@ NM_015488.4(PNKD):c.254G>A (p.Arg85His) http://identifiers.org/clinvar/334310 ^@ NM_015488.4(PNKD):c.265G>A (p.Gly89Arg) http://identifiers.org/clinvar/331458 ^@ NM_004543.4(NEB):c.13159-13C>T http://identifiers.org/clinvar/331459 ^@ NM_004543.4(NEB):c.12970C>T (p.Arg4324Cys) http://identifiers.org/clinvar/334311 ^@ NM_015488.4(PNKD):c.299C>T (p.Ala100Val) http://identifiers.org/clinvar/331461 ^@ NM_004543.4(NEB):c.12828T>C (p.Phe4276=) http://identifiers.org/clinvar/331464 ^@ NM_004543.4(NEB):c.12532-4_12532-3dupTT http://identifiers.org/clinvar/334312 ^@ NM_015488.4(PNKD):c.302G>A (p.Arg101Gln) http://identifiers.org/clinvar/334319 ^@ NM_015488.4(PNKD):c.524+13C>T http://identifiers.org/clinvar/334329 ^@ NM_015488.4(PNKD):c.1140_1145delTATGCA (p.Met381_His382del) http://identifiers.org/clinvar/331465 ^@ NM_004543.4(NEB):c.12359G>A (p.Arg4120His) http://identifiers.org/clinvar/331466 ^@ NM_004543.4(NEB):c.12312C>T (p.Tyr4104=) http://identifiers.org/clinvar/333552 ^@ NM_001044385.2(TMEM237):c.*1107C>T http://identifiers.org/clinvar/331749 ^@ NM_021007.2(SCN2A):c.*792A>G http://identifiers.org/clinvar/334332 ^@ NM_015488.4(PNKD):c.*92C>A http://identifiers.org/clinvar/331758 ^@ NM_021007.2(SCN2A):c.*1758C>T http://identifiers.org/clinvar/331776 ^@ NM_004482.3(GALNT3):c.*319A>C http://identifiers.org/clinvar/333554 ^@ NM_001044385.2(TMEM237):c.*714_*715delAG http://identifiers.org/clinvar/334333 ^@ NM_015488.4(PNKD):c.*181G>C http://identifiers.org/clinvar/334334 ^@ NM_015488.4(PNKD):c.*206C>T http://identifiers.org/clinvar/333557 ^@ NM_001044385.2(TMEM237):c.*308T>G http://identifiers.org/clinvar/333558 ^@ NM_001044385.2(TMEM237):c.*283A>C http://identifiers.org/clinvar/333560 ^@ NM_001044385.2(TMEM237):c.1115C>G (p.Ser372Cys) http://identifiers.org/clinvar/334336 ^@ NM_015488.4(PNKD):c.*451A>G http://identifiers.org/clinvar/333565 ^@ NM_001044385.2(TMEM237):c.-25G>A http://identifiers.org/clinvar/333567 ^@ NM_001044385.2(TMEM237):c.-61G>A http://identifiers.org/clinvar/333568 ^@ NM_001044385.2(TMEM237):c.-67T>G http://identifiers.org/clinvar/333572 ^@ NM_020919.3(ALS2):c.*1202C>T http://identifiers.org/clinvar/334338 ^@ NM_015488.4(PNKD):c.*607T>C http://identifiers.org/clinvar/331781 ^@ NM_004482.3(GALNT3):c.1451A>C (p.Asn484Thr) http://identifiers.org/clinvar/334340 ^@ NM_015488.4(PNKD):c.*826G>T http://identifiers.org/clinvar/331469 ^@ NM_004543.4(NEB):c.11550G>A (p.Pro3850=) http://identifiers.org/clinvar/334347 ^@ NM_015488.4(PNKD):c.*1139C>G http://identifiers.org/clinvar/331471 ^@ NM_004543.4(NEB):c.10886C>G (p.Ser3629Cys) http://identifiers.org/clinvar/331472 ^@ NM_004543.4(NEB):c.10873-13A>T http://identifiers.org/clinvar/333578 ^@ NM_020919.3(ALS2):c.*447G>A http://identifiers.org/clinvar/331475 ^@ NM_004543.4(NEB):c.10387A>G (p.Ile3463Val) http://identifiers.org/clinvar/333580 ^@ NM_020919.3(ALS2):c.*163A>G http://identifiers.org/clinvar/333581 ^@ NM_020919.3(ALS2):c.*105A>C http://identifiers.org/clinvar/331477 ^@ NM_004543.4(NEB):c.10308G>A (p.Glu3436=) http://identifiers.org/clinvar/333592 ^@ NM_020919.3(ALS2):c.3206G>A (p.Gly1069Glu) http://identifiers.org/clinvar/333596 ^@ NM_020919.3(ALS2):c.1805G>A (p.Arg602His) http://identifiers.org/clinvar/331784 ^@ NM_004482.3(GALNT3):c.669G>A (p.Val223=) http://identifiers.org/clinvar/331785 ^@ NM_004482.3(GALNT3):c.549C>A (p.Pro183=) http://identifiers.org/clinvar/331479 ^@ NM_004543.4(NEB):c.9879C>T (p.Gly3293=) http://identifiers.org/clinvar/331790 ^@ NM_004482.3(GALNT3):c.-238C>T http://identifiers.org/clinvar/331481 ^@ NM_004543.4(NEB):c.9452T>C (p.Ile3151Thr) http://identifiers.org/clinvar/331806 ^@ NM_024753.4(TTC21B):c.*642C>T http://identifiers.org/clinvar/331814 ^@ NM_024753.4(TTC21B):c.*460T>C http://identifiers.org/clinvar/331483 ^@ NM_004543.4(NEB):c.9014A>G (p.Asn3005Ser) http://identifiers.org/clinvar/331820 ^@ NM_024753.4(TTC21B):c.3873+10T>A http://identifiers.org/clinvar/334358 ^@ NM_004328.4(BCS1L):c.321-12G>A http://identifiers.org/clinvar/334361 ^@ NM_000784.3(CYP27A1):c.-370T>C http://identifiers.org/clinvar/331488 ^@ NM_004543.4(NEB):c.8152A>T (p.Met2718Leu) http://identifiers.org/clinvar/331489 ^@ NM_004543.4(NEB):c.7956+4A>G http://identifiers.org/clinvar/331494 ^@ NM_004543.4(NEB):c.7227+13T>G http://identifiers.org/clinvar/331822 ^@ NM_024753.4(TTC21B):c.2901C>G (p.Asp967Glu) http://identifiers.org/clinvar/331823 ^@ NM_024753.4(TTC21B):c.2895A>T (p.Lys965Asn) http://identifiers.org/clinvar/331498 ^@ NM_004543.4(NEB):c.6067A>G (p.Met2023Val) http://identifiers.org/clinvar/334368 ^@ NM_000784.3(CYP27A1):c.703G>A (p.Glu235Lys) http://identifiers.org/clinvar/334370 ^@ NM_000784.3(CYP27A1):c.789C>T (p.Pro263=) http://identifiers.org/clinvar/331499 ^@ NM_004543.4(NEB):c.6020T>C (p.Met2007Thr) http://identifiers.org/clinvar/331500 ^@ NM_004543.4(NEB):c.5968G>A (p.Glu1990Lys) http://identifiers.org/clinvar/331509 ^@ NM_004543.4(NEB):c.4666C>T (p.Pro1556Ser) http://identifiers.org/clinvar/331827 ^@ NM_024753.4(TTC21B):c.2472G>A (p.Leu824=) http://identifiers.org/clinvar/334373 ^@ NM_000784.3(CYP27A1):c.921G>A (p.Val307=) http://identifiers.org/clinvar/331828 ^@ NM_024753.4(TTC21B):c.2259G>A (p.Pro753=) http://identifiers.org/clinvar/333598 ^@ NM_020919.3(ALS2):c.1283C>A (p.Thr428Asn) http://identifiers.org/clinvar/331829 ^@ NM_024753.4(TTC21B):c.2227G>A (p.Val743Ile) http://identifiers.org/clinvar/333600 ^@ NM_020919.3(ALS2):c.997G>T (p.Ala333Ser) http://identifiers.org/clinvar/334376 ^@ NM_000784.3(CYP27A1):c.*153G>C http://identifiers.org/clinvar/334382 ^@ NM_025216.2(WNT10A):c.-341A>G http://identifiers.org/clinvar/331831 ^@ NM_024753.4(TTC21B):c.1870A>G (p.Ile624Val) http://identifiers.org/clinvar/331832 ^@ NM_024753.4(TTC21B):c.1732G>C (p.Glu578Gln) http://identifiers.org/clinvar/334384 ^@ NM_025216.2(WNT10A):c.-285C>T http://identifiers.org/clinvar/331833 ^@ NM_024753.4(TTC21B):c.1609T>C (p.Leu537=) http://identifiers.org/clinvar/331510 ^@ NM_004543.4(NEB):c.4119C>G (p.Asn1373Lys) http://identifiers.org/clinvar/331511 ^@ NM_004543.4(NEB):c.4072T>C (p.Tyr1358His) http://identifiers.org/clinvar/331512 ^@ NM_004543.4(NEB):c.3987+11A>T http://identifiers.org/clinvar/334386 ^@ NM_025216.2(WNT10A):c.-249G>C http://identifiers.org/clinvar/331515 ^@ NM_004543.4(NEB):c.3716G>T (p.Ser1239Ile) http://identifiers.org/clinvar/333602 ^@ NM_020919.3(ALS2):c.20+9A>G http://identifiers.org/clinvar/334387 ^@ NM_025216.2(WNT10A):c.-203dupC http://identifiers.org/clinvar/334393 ^@ NM_025216.2(WNT10A):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/333604 ^@ NM_020919.3(ALS2):c.-93A>G http://identifiers.org/clinvar/333608 ^@ NM_020919.3(ALS2):c.-329G>A http://identifiers.org/clinvar/333609 ^@ NM_001005781.1(SUMO1):c.*495G>C http://identifiers.org/clinvar/331834 ^@ NM_024753.4(TTC21B):c.1578T>C (p.Ala526=) http://identifiers.org/clinvar/331838 ^@ NM_024753.4(TTC21B):c.793A>C (p.Lys265Gln) http://identifiers.org/clinvar/333610 ^@ NM_001005781.1(SUMO1):c.*435A>G http://identifiers.org/clinvar/331516 ^@ NM_004543.4(NEB):c.3694C>G (p.Pro1232Ala) http://identifiers.org/clinvar/331517 ^@ NM_004543.4(NEB):c.3636C>T (p.Asp1212=) http://identifiers.org/clinvar/331840 ^@ NM_024753.4(TTC21B):c.95G>A (p.Arg32Lys) http://identifiers.org/clinvar/334394 ^@ NM_025216.2(WNT10A):c.208C>T (p.Arg70Trp) http://identifiers.org/clinvar/334396 ^@ NM_025216.2(WNT10A):c.349C>T (p.Pro117Ser) http://identifiers.org/clinvar/333612 ^@ NM_001005781.1(SUMO1):c.*96G>T http://identifiers.org/clinvar/334399 ^@ NM_025216.2(WNT10A):c.493G>A (p.Gly165Arg) http://identifiers.org/clinvar/331842 ^@ NM_024753.4(TTC21B):c.38A>G (p.Tyr13Cys) http://identifiers.org/clinvar/333618 ^@ NM_001204.6(BMPR2):c.-930_-928delGGC http://identifiers.org/clinvar/334402 ^@ NM_025216.2(WNT10A):c.652A>G (p.Met218Val) http://identifiers.org/clinvar/333622 ^@ NM_001204.6(BMPR2):c.-927A>G http://identifiers.org/clinvar/331526 ^@ NM_004543.4(NEB):c.2524-15G>T http://identifiers.org/clinvar/331527 ^@ NM_004543.4(NEB):c.2354A>G (p.His785Arg) http://identifiers.org/clinvar/333621 ^@ NM_001204.6(BMPR2):c.-927_-924delAGCAinsGGCGGCGGCGGCG http://identifiers.org/clinvar/331845 ^@ NM_024753.4(TTC21B):c.-16C>G http://identifiers.org/clinvar/334403 ^@ NM_025216.2(WNT10A):c.756+13C>A http://identifiers.org/clinvar/334404 ^@ NM_025216.2(WNT10A):c.756+14C>T http://identifiers.org/clinvar/331846 ^@ NM_024753.4(TTC21B):c.-17C>T http://identifiers.org/clinvar/331847 ^@ NM_024753.4(TTC21B):c.-18C>T http://identifiers.org/clinvar/331855 ^@ NM_001165963.1(SCN1A):c.*1989C>T http://identifiers.org/clinvar/331537 ^@ NM_004543.4(NEB):c.1045A>C (p.Lys349Gln) http://identifiers.org/clinvar/334410 ^@ NM_025216.2(WNT10A):c.1003G>A (p.Asp335Asn) http://identifiers.org/clinvar/334416 ^@ NM_025216.2(WNT10A):c.*15C>T http://identifiers.org/clinvar/334424 ^@ NM_002181.3(IHH):c.*785C>T http://identifiers.org/clinvar/331542 ^@ NM_004543.4(NEB):c.177G>A (p.Gln59=) http://identifiers.org/clinvar/333623 ^@ NM_001204.6(BMPR2):c.-922C>T http://identifiers.org/clinvar/331857 ^@ NM_001165963.1(SCN1A):c.*1952T>C http://identifiers.org/clinvar/331860 ^@ NM_001165963.1(SCN1A):c.*1864T>A http://identifiers.org/clinvar/333620 ^@ NM_001204.6(BMPR2):c.-921_-919dupAGC http://identifiers.org/clinvar/334425 ^@ NM_002181.3(IHH):c.*623dupC http://identifiers.org/clinvar/334431 ^@ NM_002181.3(IHH):c.*25G>T http://identifiers.org/clinvar/331861 ^@ NM_001165963.1(SCN1A):c.*1795G>A http://identifiers.org/clinvar/333628 ^@ NM_001204.6(BMPR2):c.-702C>T http://identifiers.org/clinvar/331549 ^@ NM_000726.4(CACNB4):c.*5995dupA http://identifiers.org/clinvar/331864 ^@ NM_001165963.1(SCN1A):c.*1653C>T http://identifiers.org/clinvar/333637 ^@ NM_001204.6(BMPR2):c.-70G>T http://identifiers.org/clinvar/333639 ^@ NM_001204.6(BMPR2):c.621+8T>C http://identifiers.org/clinvar/331876 ^@ NM_001165963.1(SCN1A):c.*460A>C http://identifiers.org/clinvar/331877 ^@ NM_001165963.1(SCN1A):c.*259T>C http://identifiers.org/clinvar/331882 ^@ NM_001165963.1(SCN1A):c.4581+12C>T http://identifiers.org/clinvar/333640 ^@ NM_001204.6(BMPR2):c.674G>A (p.Arg225His) http://identifiers.org/clinvar/334432 ^@ NM_002181.3(IHH):c.*13G>A http://identifiers.org/clinvar/334442 ^@ NM_002181.3(IHH):c.702G>A (p.Glu234=) http://identifiers.org/clinvar/334450 ^@ NM_001927.3(DES):c.-6G>A http://identifiers.org/clinvar/334452 ^@ NM_001927.3(DES):c.*428G>C http://identifiers.org/clinvar/334456 ^@ NM_001927.3(DES):c.*588G>A http://identifiers.org/clinvar/334459 ^@ NM_015311.2(OBSL1):c.5676G>A (p.Leu1892=) http://identifiers.org/clinvar/331884 ^@ NM_001165963.1(SCN1A):c.3880-10G>C http://identifiers.org/clinvar/331886 ^@ NM_001165963.1(SCN1A):c.3513T>C (p.Pro1171=) http://identifiers.org/clinvar/331887 ^@ NM_001165963.1(SCN1A):c.3012T>C (p.Asp1004=) http://identifiers.org/clinvar/333644 ^@ NM_001204.6(BMPR2):c.1414-3C>T http://identifiers.org/clinvar/331550 ^@ NM_000726.4(CACNB4):c.*5977G>T http://identifiers.org/clinvar/333647 ^@ NM_001204.6(BMPR2):c.2352C>T (p.Val784=) http://identifiers.org/clinvar/331552 ^@ NM_000726.4(CACNB4):c.*5855A>C http://identifiers.org/clinvar/334467 ^@ NM_015311.2(OBSL1):c.4829C>A (p.Ser1610Tyr) http://identifiers.org/clinvar/331557 ^@ NM_000726.4(CACNB4):c.*5418T>C http://identifiers.org/clinvar/333650 ^@ NM_001204.6(BMPR2):c.2801G>C (p.Arg934Thr) http://identifiers.org/clinvar/333654 ^@ NM_001204.6(BMPR2):c.*77A>G http://identifiers.org/clinvar/333653 ^@ NM_001204.6(BMPR2):c.*79delA http://identifiers.org/clinvar/334470 ^@ NM_015311.2(OBSL1):c.4566C>T (p.Cys1522=) http://identifiers.org/clinvar/331889 ^@ NM_001165963.1(SCN1A):c.2177-8dupT http://identifiers.org/clinvar/334472 ^@ NM_015311.2(OBSL1):c.4454G>A (p.Arg1485Gln) http://identifiers.org/clinvar/331904 ^@ NM_002977.3(SCN9A):c.*2744delC http://identifiers.org/clinvar/334475 ^@ NM_015311.2(OBSL1):c.4395T>C (p.Asp1465=) http://identifiers.org/clinvar/331907 ^@ NM_002977.3(SCN9A):c.*2640G>A http://identifiers.org/clinvar/331915 ^@ NM_002977.3(SCN9A):c.*2226T>G http://identifiers.org/clinvar/333656 ^@ NM_001204.6(BMPR2):c.*130G>C http://identifiers.org/clinvar/331559 ^@ NM_000726.4(CACNB4):c.*5372T>C http://identifiers.org/clinvar/333662 ^@ NM_001204.6(BMPR2):c.*686C>G http://identifiers.org/clinvar/333667 ^@ NM_001204.6(BMPR2):c.*1226C>A http://identifiers.org/clinvar/331562 ^@ NM_000726.4(CACNB4):c.*5022A>G http://identifiers.org/clinvar/331564 ^@ NM_000726.4(CACNB4):c.*4969G>A http://identifiers.org/clinvar/331916 ^@ NM_002977.3(SCN9A):c.*2222T>C http://identifiers.org/clinvar/331921 ^@ NM_002977.3(SCN9A):c.*2146G>C http://identifiers.org/clinvar/331565 ^@ NM_000726.4(CACNB4):c.*4919G>A http://identifiers.org/clinvar/334476 ^@ NM_015311.2(OBSL1):c.4363T>C (p.Leu1455=) http://identifiers.org/clinvar/333677 ^@ NM_001204.6(BMPR2):c.*2491T>C http://identifiers.org/clinvar/334478 ^@ NM_015311.2(OBSL1):c.4285G>A (p.Val1429Met) http://identifiers.org/clinvar/331927 ^@ NM_002977.3(SCN9A):c.*1770A>C http://identifiers.org/clinvar/334480 ^@ NM_015311.2(OBSL1):c.4147G>A (p.Val1383Ile) http://identifiers.org/clinvar/333678 ^@ NM_001204.6(BMPR2):c.*2519A>G http://identifiers.org/clinvar/333683 ^@ NM_001204.6(BMPR2):c.*2901delA http://identifiers.org/clinvar/333686 ^@ NM_001204.6(BMPR2):c.*3061A>G http://identifiers.org/clinvar/334488 ^@ NM_015311.2(OBSL1):c.4024G>A (p.Asp1342Asn) http://identifiers.org/clinvar/333691 ^@ NM_001204.6(BMPR2):c.*3498dupA http://identifiers.org/clinvar/334490 ^@ NM_015311.2(OBSL1):c.3950T>A (p.Leu1317Gln) http://identifiers.org/clinvar/334495 ^@ NM_015311.2(OBSL1):c.3680G>A (p.Arg1227His) http://identifiers.org/clinvar/331935 ^@ NM_002977.3(SCN9A):c.*1184T>G http://identifiers.org/clinvar/331943 ^@ NM_002977.3(SCN9A):c.*785C>T http://identifiers.org/clinvar/331944 ^@ NM_002977.3(SCN9A):c.*771_*772dupAA http://identifiers.org/clinvar/331949 ^@ NM_002977.3(SCN9A):c.*377C>G http://identifiers.org/clinvar/334502 ^@ NM_015311.2(OBSL1):c.2690C>T (p.Ser897Leu) http://identifiers.org/clinvar/333694 ^@ NM_001204.6(BMPR2):c.*3823_*3825delCAA http://identifiers.org/clinvar/331951 ^@ NM_002977.3(SCN9A):c.*237C>G http://identifiers.org/clinvar/331953 ^@ NM_002977.3(SCN9A):c.*226A>C http://identifiers.org/clinvar/334513 ^@ NM_015311.2(OBSL1):c.1912G>A (p.Asp638Asn) http://identifiers.org/clinvar/333699 ^@ NM_001204.6(BMPR2):c.*4821G>C http://identifiers.org/clinvar/334516 ^@ NM_015311.2(OBSL1):c.1850G>A (p.Arg617His) http://identifiers.org/clinvar/331957 ^@ NM_002977.3(SCN9A):c.*129C>T http://identifiers.org/clinvar/334517 ^@ NM_015311.2(OBSL1):c.1818C>T (p.Phe606=) http://identifiers.org/clinvar/331965 ^@ NM_002977.3(SCN9A):c.3911T>C (p.Ile1304Thr) http://identifiers.org/clinvar/331968 ^@ NM_002977.3(SCN9A):c.3721A>G (p.Thr1241Ala) http://identifiers.org/clinvar/334526 ^@ NM_015311.2(OBSL1):c.1102C>T (p.Arg368Cys) http://identifiers.org/clinvar/331566 ^@ NM_000726.4(CACNB4):c.*4845T>C http://identifiers.org/clinvar/331570 ^@ NM_000726.4(CACNB4):c.*4569A>G http://identifiers.org/clinvar/333700 ^@ NM_001204.6(BMPR2):c.*4905C>A http://identifiers.org/clinvar/334536 ^@ NM_015311.2(OBSL1):c.189C>G (p.Asp63Glu) http://identifiers.org/clinvar/334538 ^@ NM_015311.2(OBSL1):c.82G>C (p.Glu28Gln) http://identifiers.org/clinvar/333703 ^@ NM_001204.6(BMPR2):c.*5044A>G http://identifiers.org/clinvar/333705 ^@ NM_001204.6(BMPR2):c.*5152A>G http://identifiers.org/clinvar/333706 ^@ NM_001204.6(BMPR2):c.*5154C>T http://identifiers.org/clinvar/334543 ^@ NM_015311.2(OBSL1):c.-42T>C http://identifiers.org/clinvar/334544 ^@ NM_015311.2(OBSL1):c.-43delC http://identifiers.org/clinvar/333713 ^@ NM_001204.6(BMPR2):c.*5627G>T http://identifiers.org/clinvar/333719 ^@ NM_001204.6(BMPR2):c.*6108G>T http://identifiers.org/clinvar/333720 ^@ NM_001204.6(BMPR2):c.*6505C>G http://identifiers.org/clinvar/331981 ^@ NM_002977.3(SCN9A):c.2463A>C (p.Ser821=) http://identifiers.org/clinvar/334545 ^@ NM_015311.2(OBSL1):c.-51A>C http://identifiers.org/clinvar/331995 ^@ NM_002977.3(SCN9A):c.1094A>G (p.Asn365Ser) http://identifiers.org/clinvar/331997 ^@ NM_002977.3(SCN9A):c.965+13T>C http://identifiers.org/clinvar/332001 ^@ NM_002977.3(SCN9A):c.129T>C (p.Asp43=) http://identifiers.org/clinvar/334547 ^@ NM_015311.2(OBSL1):c.-165G>C http://identifiers.org/clinvar/334549 ^@ NM_015311.2(OBSL1):c.-208G>C http://identifiers.org/clinvar/332003 ^@ NM_002977.3(SCN9A):c.-277C>T http://identifiers.org/clinvar/334555 ^@ NM_181457.3(PAX3):c.*84G>A http://identifiers.org/clinvar/332005 ^@ NM_002977.3(SCN9A):c.-290T>C http://identifiers.org/clinvar/332007 ^@ NM_002977.3(SCN9A):c.-307G>T http://identifiers.org/clinvar/331574 ^@ NM_000726.4(CACNB4):c.*3804G>C http://identifiers.org/clinvar/331577 ^@ NM_000726.4(CACNB4):c.*3475A>T http://identifiers.org/clinvar/333724 ^@ NM_001204.6(BMPR2):c.*7080G>A http://identifiers.org/clinvar/333732 ^@ NM_012092.3(ICOS):c.58+9T>G http://identifiers.org/clinvar/332008 ^@ NM_002977.3(SCN9A):c.-324C>T http://identifiers.org/clinvar/334563 ^@ NM_181457.3(PAX3):c.-156C>T http://identifiers.org/clinvar/334564 ^@ NM_181457.3(PAX3):c.-156C>A http://identifiers.org/clinvar/331578 ^@ NM_000726.4(CACNB4):c.*3387C>G http://identifiers.org/clinvar/331580 ^@ NM_000726.4(CACNB4):c.*2924T>C http://identifiers.org/clinvar/331585 ^@ NM_000726.4(CACNB4):c.*2695G>T http://identifiers.org/clinvar/331593 ^@ NM_000726.4(CACNB4):c.*1942T>C http://identifiers.org/clinvar/334566 ^@ NM_181457.3(PAX3):c.-248A>C http://identifiers.org/clinvar/332009 ^@ NM_002977.3(SCN9A):c.-339G>C http://identifiers.org/clinvar/334568 ^@ NM_003590.4(CUL3):c.*4088T>C http://identifiers.org/clinvar/331595 ^@ NM_000726.4(CACNB4):c.*1931T>C http://identifiers.org/clinvar/334572 ^@ NM_003590.4(CUL3):c.*3766G>A http://identifiers.org/clinvar/334575 ^@ NM_003590.4(CUL3):c.*3672T>C http://identifiers.org/clinvar/331596 ^@ NM_000726.4(CACNB4):c.*1910_*1911delAT http://identifiers.org/clinvar/331597 ^@ NM_000726.4(CACNB4):c.*1909C>T http://identifiers.org/clinvar/332017 ^@ NM_003742.2(ABCB11):c.*237T>C http://identifiers.org/clinvar/334581 ^@ NM_003590.4(CUL3):c.*3156A>G http://identifiers.org/clinvar/334583 ^@ NM_003590.4(CUL3):c.*3096G>C http://identifiers.org/clinvar/332019 ^@ NM_003742.2(ABCB11):c.*193G>C http://identifiers.org/clinvar/331602 ^@ NM_000726.4(CACNB4):c.*1656T>C http://identifiers.org/clinvar/333735 ^@ NM_012092.3(ICOS):c.501+6C>T http://identifiers.org/clinvar/334585 ^@ NM_003590.4(CUL3):c.*2946_*2949delCCTG http://identifiers.org/clinvar/334588 ^@ NM_003590.4(CUL3):c.*2912T>C http://identifiers.org/clinvar/333738 ^@ NM_012092.3(ICOS):c.597A>G (p.Leu199=) http://identifiers.org/clinvar/333740 ^@ NM_012092.3(ICOS):c.*33T>C http://identifiers.org/clinvar/331603 ^@ NM_000726.4(CACNB4):c.*1635T>C http://identifiers.org/clinvar/333753 ^@ NM_012092.3(ICOS):c.*1093C>T http://identifiers.org/clinvar/332023 ^@ NM_003742.2(ABCB11):c.2905A>G (p.Lys969Glu) http://identifiers.org/clinvar/333761 ^@ NM_012092.3(ICOS):c.*1854G>A http://identifiers.org/clinvar/334590 ^@ NM_003590.4(CUL3):c.*2863T>G http://identifiers.org/clinvar/333769 ^@ NM_005006.6(NDUFS1):c.*561T>C http://identifiers.org/clinvar/332024 ^@ NM_003742.2(ABCB11):c.2834G>A (p.Ser945Asn) http://identifiers.org/clinvar/333772 ^@ NM_005006.6(NDUFS1):c.*438C>T http://identifiers.org/clinvar/333774 ^@ NM_005006.6(NDUFS1):c.*336G>T http://identifiers.org/clinvar/333777 ^@ NM_005006.6(NDUFS1):c.*151T>C http://identifiers.org/clinvar/332026 ^@ NM_003742.2(ABCB11):c.2593G>A (p.Ala865Thr) http://identifiers.org/clinvar/332028 ^@ NM_003742.2(ABCB11):c.2163T>C (p.Tyr721=) http://identifiers.org/clinvar/332036 ^@ NM_003742.2(ABCB11):c.1113A>G (p.Leu371=) http://identifiers.org/clinvar/334597 ^@ NM_003590.4(CUL3):c.*2431G>T http://identifiers.org/clinvar/334599 ^@ NM_003590.4(CUL3):c.*2272T>C http://identifiers.org/clinvar/334600 ^@ NM_003590.4(CUL3):c.*2195A>G http://identifiers.org/clinvar/332040 ^@ NM_004525.2(LRP2):c.*1397_*1400dupGATG http://identifiers.org/clinvar/331611 ^@ NM_000726.4(CACNB4):c.*1110C>A http://identifiers.org/clinvar/333789 ^@ NM_005006.6(NDUFS1):c.154-10_154-9delTT http://identifiers.org/clinvar/331612 ^@ NM_000726.4(CACNB4):c.*1093T>C http://identifiers.org/clinvar/331613 ^@ NM_000726.4(CACNB4):c.*1009C>T http://identifiers.org/clinvar/331615 ^@ NM_000726.4(CACNB4):c.*865G>A http://identifiers.org/clinvar/333790 ^@ NM_005006.6(NDUFS1):c.-47C>G http://identifiers.org/clinvar/334603 ^@ NM_003590.4(CUL3):c.*2130A>G http://identifiers.org/clinvar/334608 ^@ NM_003590.4(CUL3):c.*1934_*1937delAAGT http://identifiers.org/clinvar/334616 ^@ NM_003590.4(CUL3):c.*1403A>C http://identifiers.org/clinvar/331628 ^@ NM_000726.4(CACNB4):c.*151dupA http://identifiers.org/clinvar/334619 ^@ NM_003590.4(CUL3):c.*905A>G http://identifiers.org/clinvar/334621 ^@ NM_003590.4(CUL3):c.*545A>G http://identifiers.org/clinvar/334624 ^@ NM_003590.4(CUL3):c.*207G>A http://identifiers.org/clinvar/331632 ^@ NM_000726.4(CACNB4):c.521+9C>T http://identifiers.org/clinvar/331635 ^@ NM_000726.4(CACNB4):c.177G>A (p.Pro59=) http://identifiers.org/clinvar/333794 ^@ NM_014929.3(FASTKD2):c.-91C>T http://identifiers.org/clinvar/334628 ^@ NM_003590.4(CUL3):c.2029+14T>C http://identifiers.org/clinvar/331639 ^@ NM_000547.5(TPO):c.2703C>T (p.Ala901=) http://identifiers.org/clinvar/332041 ^@ NM_004525.2(LRP2):c.*1386A>T http://identifiers.org/clinvar/332047 ^@ NM_004525.2(LRP2):c.*1128_*1129dupTT http://identifiers.org/clinvar/332049 ^@ NM_004525.2(LRP2):c.*1118T>G http://identifiers.org/clinvar/332054 ^@ NM_004525.2(LRP2):c.*908_*910dupAAA http://identifiers.org/clinvar/333796 ^@ NM_014929.3(FASTKD2):c.-51+14G>A http://identifiers.org/clinvar/334631 ^@ NM_003590.4(CUL3):c.883+13G>C http://identifiers.org/clinvar/333797 ^@ NM_014929.3(FASTKD2):c.-37C>T http://identifiers.org/clinvar/332069 ^@ NM_004525.2(LRP2):c.13699C>G (p.Pro4567Ala) http://identifiers.org/clinvar/331642 ^@ NM_000547.5(TPO):c.*55G>A http://identifiers.org/clinvar/331646 ^@ NM_000547.5(TPO):c.*124G>C http://identifiers.org/clinvar/332073 ^@ NM_004525.2(LRP2):c.13380G>C (p.Lys4460Asn) http://identifiers.org/clinvar/334636 ^@ NM_003590.4(CUL3):c.264+9C>T http://identifiers.org/clinvar/332075 ^@ NM_004525.2(LRP2):c.12989-14C>T http://identifiers.org/clinvar/331649 ^@ NM_006186.3(NR4A2):c.*1198C>T http://identifiers.org/clinvar/333806 ^@ NM_014929.3(FASTKD2):c.1778C>T (p.Ser593Leu) http://identifiers.org/clinvar/331653 ^@ NM_006186.3(NR4A2):c.*418_*419delCA http://identifiers.org/clinvar/334643 ^@ NM_000092.4(COL4A4):c.*4369C>T http://identifiers.org/clinvar/334648 ^@ NM_000092.4(COL4A4):c.*4106C>A http://identifiers.org/clinvar/331658 ^@ NM_006186.3(NR4A2):c.1659C>G (p.Ser553=) http://identifiers.org/clinvar/331660 ^@ NM_006186.3(NR4A2):c.1158+13C>T http://identifiers.org/clinvar/331667 ^@ NM_006186.3(NR4A2):c.-227C>G http://identifiers.org/clinvar/333808 ^@ NM_014929.3(FASTKD2):c.2018A>G (p.Asn673Ser) http://identifiers.org/clinvar/333811 ^@ NM_014929.3(FASTKD2):c.*87A>G http://identifiers.org/clinvar/334655 ^@ NM_000092.4(COL4A4):c.*3712T>G http://identifiers.org/clinvar/333814 ^@ NM_014929.3(FASTKD2):c.*451C>T http://identifiers.org/clinvar/334657 ^@ NM_000092.4(COL4A4):c.*3639T>C http://identifiers.org/clinvar/332077 ^@ NM_004525.2(LRP2):c.12811+12G>A http://identifiers.org/clinvar/332080 ^@ NM_004525.2(LRP2):c.12639C>T (p.Ala4213=) http://identifiers.org/clinvar/332090 ^@ NM_004525.2(LRP2):c.11498-13T>C http://identifiers.org/clinvar/333830 ^@ NM_014929.3(FASTKD2):c.*1446A>C http://identifiers.org/clinvar/331668 ^@ NM_006186.3(NR4A2):c.-241C>G http://identifiers.org/clinvar/332098 ^@ NM_004525.2(LRP2):c.10906C>T (p.Arg3636Trp) http://identifiers.org/clinvar/332101 ^@ NM_004525.2(LRP2):c.10687G>A (p.Gly3563Ser) http://identifiers.org/clinvar/333834 ^@ NM_014929.3(FASTKD2):c.*1621A>G http://identifiers.org/clinvar/333835 ^@ NM_014929.3(FASTKD2):c.*1981C>G http://identifiers.org/clinvar/333837 ^@ NM_014929.3(FASTKD2):c.*2069T>A http://identifiers.org/clinvar/333839 ^@ NM_014929.3(FASTKD2):c.*2298C>T http://identifiers.org/clinvar/333843 ^@ NM_014929.3(FASTKD2):c.*2428G>A http://identifiers.org/clinvar/333844 ^@ NM_014929.3(FASTKD2):c.*2431C>G http://identifiers.org/clinvar/331671 ^@ NM_006186.3(NR4A2):c.-387A>T http://identifiers.org/clinvar/333847 ^@ NM_014929.3(FASTKD2):c.*2876A>G http://identifiers.org/clinvar/334663 ^@ NM_000092.4(COL4A4):c.*3269A>G http://identifiers.org/clinvar/332103 ^@ NM_004525.2(LRP2):c.10403C>T (p.Pro3468Leu) http://identifiers.org/clinvar/331678 ^@ NM_001105.4(ACVR1):c.*421G>A http://identifiers.org/clinvar/332105 ^@ NM_004525.2(LRP2):c.10233C>T (p.Phe3411=) http://identifiers.org/clinvar/332111 ^@ NM_004525.2(LRP2):c.9442C>A (p.Arg3148=) http://identifiers.org/clinvar/332115 ^@ NM_004525.2(LRP2):c.9157G>A (p.Glu3053Lys) http://identifiers.org/clinvar/334673 ^@ NM_000092.4(COL4A4):c.*2033G>A http://identifiers.org/clinvar/332116 ^@ NM_004525.2(LRP2):c.9128G>A (p.Arg3043His) http://identifiers.org/clinvar/333868 ^@ NM_006891.3(CRYGD):c.482A>G (p.Asn161Ser) http://identifiers.org/clinvar/331679 ^@ NM_001105.4(ACVR1):c.*358G>A http://identifiers.org/clinvar/332117 ^@ NM_004525.2(LRP2):c.9040C>T (p.Arg3014Trp) http://identifiers.org/clinvar/334674 ^@ NM_000092.4(COL4A4):c.*1914A>T http://identifiers.org/clinvar/333873 ^@ NM_006891.3(CRYGD):c.252+7A>G http://identifiers.org/clinvar/334679 ^@ NM_000092.4(COL4A4):c.*1346T>C http://identifiers.org/clinvar/333875 ^@ NM_006891.3(CRYGD):c.130A>G (p.Met44Val) http://identifiers.org/clinvar/333880 ^@ NM_006891.3(CRYGD):c.-80A>C http://identifiers.org/clinvar/333885 ^@ NM_015040.3(PIKFYVE):c.173-11C>T http://identifiers.org/clinvar/332127 ^@ NM_004525.2(LRP2):c.8276G>A (p.Arg2759His) http://identifiers.org/clinvar/334680 ^@ NM_000092.4(COL4A4):c.*1242C>T http://identifiers.org/clinvar/332128 ^@ NM_004525.2(LRP2):c.8245G>T (p.Ala2749Ser) http://identifiers.org/clinvar/334681 ^@ NM_000092.4(COL4A4):c.*1112G>A http://identifiers.org/clinvar/331681 ^@ NM_001105.4(ACVR1):c.*250C>G http://identifiers.org/clinvar/331688 ^@ NM_001105.4(ACVR1):c.1513T>C (p.Leu505=) http://identifiers.org/clinvar/333888 ^@ NM_015040.3(PIKFYVE):c.1051-10G>T http://identifiers.org/clinvar/334684 ^@ NM_000092.4(COL4A4):c.*863C>G http://identifiers.org/clinvar/333890 ^@ NM_015040.3(PIKFYVE):c.1621C>A (p.Pro541Thr) http://identifiers.org/clinvar/331690 ^@ NM_001105.4(ACVR1):c.1131C>T (p.Gly377=) http://identifiers.org/clinvar/332137 ^@ NM_004525.2(LRP2):c.7007G>A (p.Arg2336Gln) http://identifiers.org/clinvar/334685 ^@ NM_000092.4(COL4A4):c.*857G>A http://identifiers.org/clinvar/332143 ^@ NM_004525.2(LRP2):c.6766G>T (p.Asp2256Tyr) http://identifiers.org/clinvar/334688 ^@ NM_000092.4(COL4A4):c.*774dupA http://identifiers.org/clinvar/333894 ^@ NM_015040.3(PIKFYVE):c.1928A>G (p.Gln643Arg) http://identifiers.org/clinvar/333898 ^@ NM_015040.3(PIKFYVE):c.2106C>T (p.Pro702=) http://identifiers.org/clinvar/333900 ^@ NM_015040.3(PIKFYVE):c.2191-15A>T http://identifiers.org/clinvar/333907 ^@ NM_015040.3(PIKFYVE):c.2892G>A (p.Pro964=) http://identifiers.org/clinvar/334692 ^@ NM_000092.4(COL4A4):c.*566delA http://identifiers.org/clinvar/333911 ^@ NM_015040.3(PIKFYVE):c.3097T>G (p.Ser1033Ala) http://identifiers.org/clinvar/332144 ^@ NM_004525.2(LRP2):c.6575C>G (p.Pro2192Arg) http://identifiers.org/clinvar/334695 ^@ NM_000092.4(COL4A4):c.*244C>T http://identifiers.org/clinvar/334696 ^@ NM_000092.4(COL4A4):c.*128G>A http://identifiers.org/clinvar/333920 ^@ NM_015040.3(PIKFYVE):c.4436C>G (p.Thr1479Ser) http://identifiers.org/clinvar/334699 ^@ NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) http://identifiers.org/clinvar/333928 ^@ NM_015040.3(PIKFYVE):c.5028-8G>A http://identifiers.org/clinvar/333929 ^@ NM_015040.3(PIKFYVE):c.5322G>C (p.Gln1774His) http://identifiers.org/clinvar/333936 ^@ NM_015040.3(PIKFYVE):c.5594C>T (p.Ala1865Val) http://identifiers.org/clinvar/331691 ^@ NM_001105.4(ACVR1):c.1086C>A (p.Ser362=) http://identifiers.org/clinvar/333940 ^@ NM_015040.3(PIKFYVE):c.*78T>C http://identifiers.org/clinvar/334701 ^@ NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) http://identifiers.org/clinvar/333944 ^@ NM_015040.3(PIKFYVE):c.*518C>A http://identifiers.org/clinvar/331694 ^@ NM_001105.4(ACVR1):c.643+7C>T http://identifiers.org/clinvar/334706 ^@ NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) http://identifiers.org/clinvar/334708 ^@ NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) http://identifiers.org/clinvar/333948 ^@ NM_015040.3(PIKFYVE):c.*729T>C http://identifiers.org/clinvar/334709 ^@ NM_000092.4(COL4A4):c.3577+14C>T http://identifiers.org/clinvar/334710 ^@ NM_000092.4(COL4A4):c.3233C>T (p.Ala1078Val) http://identifiers.org/clinvar/334711 ^@ NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) http://identifiers.org/clinvar/333959 ^@ NM_015040.3(PIKFYVE):c.*1638delT http://identifiers.org/clinvar/334714 ^@ NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) http://identifiers.org/clinvar/333960 ^@ NM_015040.3(PIKFYVE):c.*1826A>G http://identifiers.org/clinvar/333964 ^@ NM_015040.3(PIKFYVE):c.*1978T>C http://identifiers.org/clinvar/333965 ^@ NM_015040.3(PIKFYVE):c.*2027C>T http://identifiers.org/clinvar/331699 ^@ NM_001105.4(ACVR1):c.99C>T (p.Tyr33=) http://identifiers.org/clinvar/333974 ^@ NM_015040.3(PIKFYVE):c.*2549G>A http://identifiers.org/clinvar/333976 ^@ NM_015040.3(PIKFYVE):c.*2738A>G http://identifiers.org/clinvar/331700 ^@ NM_001105.4(ACVR1):c.-13A>G http://identifiers.org/clinvar/332152 ^@ NM_004525.2(LRP2):c.6048C>T (p.Ala2016=) http://identifiers.org/clinvar/333977 ^@ NM_015040.3(PIKFYVE):c.*3027A>C http://identifiers.org/clinvar/333981 ^@ NM_015040.3(PIKFYVE):c.*3186A>T http://identifiers.org/clinvar/333982 ^@ NM_015040.3(PIKFYVE):c.*3309_*3313delTGTAT http://identifiers.org/clinvar/332153 ^@ NM_004525.2(LRP2):c.6040+15C>T http://identifiers.org/clinvar/333984 ^@ NM_015040.3(PIKFYVE):c.*3329G>T http://identifiers.org/clinvar/334717 ^@ NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) http://identifiers.org/clinvar/334719 ^@ NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) http://identifiers.org/clinvar/331704 ^@ NM_021007.2(SCN2A):c.-339G>A http://identifiers.org/clinvar/331707 ^@ NM_021007.2(SCN2A):c.-151_-149dupAAA http://identifiers.org/clinvar/331719 ^@ NM_021007.2(SCN2A):c.-147_-146insAATTT http://identifiers.org/clinvar/332158 ^@ NM_004525.2(LRP2):c.5553C>T (p.His1851=) http://identifiers.org/clinvar/334724 ^@ NM_000092.4(COL4A4):c.2165-15T>G http://identifiers.org/clinvar/334727 ^@ NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) http://identifiers.org/clinvar/332159 ^@ NM_004525.2(LRP2):c.5538+10C>T http://identifiers.org/clinvar/334730 ^@ NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) http://identifiers.org/clinvar/334734 ^@ NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) http://identifiers.org/clinvar/331720 ^@ NM_021007.2(SCN2A):c.-147_-146insAGATT http://identifiers.org/clinvar/334736 ^@ NM_000092.4(COL4A4):c.736-10T>G http://identifiers.org/clinvar/334738 ^@ NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) http://identifiers.org/clinvar/334059 ^@ NM_000384.2(APOB):c.*180G>T http://identifiers.org/clinvar/334062 ^@ NM_000384.2(APOB):c.*117G>A http://identifiers.org/clinvar/334074 ^@ NM_000384.2(APOB):c.12903C>T (p.Asp4301=) http://identifiers.org/clinvar/332162 ^@ NM_004525.2(LRP2):c.5115C>T (p.Ala1705=) http://identifiers.org/clinvar/331724 ^@ NM_021007.2(SCN2A):c.-135_-134dupTT http://identifiers.org/clinvar/334739 ^@ NM_000092.4(COL4A4):c.193-9C>G http://identifiers.org/clinvar/334742 ^@ NM_000092.4(COL4A4):c.-134C>G http://identifiers.org/clinvar/334078 ^@ NM_000384.2(APOB):c.12343G>T (p.Val4115Phe) http://identifiers.org/clinvar/334079 ^@ NM_000384.2(APOB):c.12310C>A (p.Leu4104Met) http://identifiers.org/clinvar/334083 ^@ NM_000384.2(APOB):c.12088-13dupT http://identifiers.org/clinvar/334091 ^@ NM_000384.2(APOB):c.11833A>G (p.Thr3945Ala) http://identifiers.org/clinvar/334744 ^@ NM_000092.4(COL4A4):c.-341G>A http://identifiers.org/clinvar/334093 ^@ NM_000384.2(APOB):c.11816G>A (p.Gly3939Asp) http://identifiers.org/clinvar/332166 ^@ NM_004525.2(LRP2):c.4855C>A (p.Leu1619Ile) http://identifiers.org/clinvar/334748 ^@ NM_000091.4(COL4A3):c.-146G>C http://identifiers.org/clinvar/334759 ^@ NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) http://identifiers.org/clinvar/332169 ^@ NM_004525.2(LRP2):c.4691+15T>A http://identifiers.org/clinvar/332170 ^@ NM_004525.2(LRP2):c.4691+7delC http://identifiers.org/clinvar/332171 ^@ NM_004525.2(LRP2):c.4561C>T (p.Arg1521Cys) http://identifiers.org/clinvar/331735 ^@ NM_021007.2(SCN2A):c.4260G>T (p.Thr1420=) http://identifiers.org/clinvar/331737 ^@ NM_021007.2(SCN2A):c.5155T>C (p.Leu1719=) http://identifiers.org/clinvar/334094 ^@ NM_000384.2(APOB):c.11585T>C (p.Ile3862Thr) http://identifiers.org/clinvar/334099 ^@ NM_000384.2(APOB):c.11443G>A (p.Val3815Met) http://identifiers.org/clinvar/334774 ^@ NM_000091.4(COL4A3):c.3566-10T>C http://identifiers.org/clinvar/334778 ^@ NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) http://identifiers.org/clinvar/334101 ^@ NM_000384.2(APOB):c.11354C>T (p.Thr3785Ile) http://identifiers.org/clinvar/334105 ^@ NM_000384.2(APOB):c.10882A>T (p.Asn3628Tyr) http://identifiers.org/clinvar/334114 ^@ NM_000384.2(APOB):c.9294C>T (p.Tyr3098=) http://identifiers.org/clinvar/332176 ^@ NM_004525.2(LRP2):c.3667+13T>A http://identifiers.org/clinvar/334784 ^@ NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) http://identifiers.org/clinvar/331739 ^@ NM_021007.2(SCN2A):c.5517C>T (p.Leu1839=) http://identifiers.org/clinvar/332180 ^@ NM_004525.2(LRP2):c.3495G>A (p.Ser1165=) http://identifiers.org/clinvar/334785 ^@ NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) http://identifiers.org/clinvar/334116 ^@ NM_000384.2(APOB):c.9004C>T (p.Leu3002=) http://identifiers.org/clinvar/334119 ^@ NM_000384.2(APOB):c.8373T>C (p.Ala2791=) http://identifiers.org/clinvar/334126 ^@ NM_000384.2(APOB):c.7585C>A (p.Gln2529Lys) http://identifiers.org/clinvar/332181 ^@ NM_004525.2(LRP2):c.3128A>G (p.Tyr1043Cys) http://identifiers.org/clinvar/334788 ^@ NM_000091.4(COL4A3):c.4756-13A>T http://identifiers.org/clinvar/334790 ^@ NM_000091.4(COL4A3):c.*177A>G http://identifiers.org/clinvar/332185 ^@ NM_004525.2(LRP2):c.2885C>T (p.Ser962Leu) http://identifiers.org/clinvar/332190 ^@ NM_004525.2(LRP2):c.2450C>T (p.Thr817Met) http://identifiers.org/clinvar/332191 ^@ NM_004525.2(LRP2):c.2320+9G>A http://identifiers.org/clinvar/331741 ^@ NM_021007.2(SCN2A):c.5620G>A (p.Ala1874Thr) http://identifiers.org/clinvar/332198 ^@ NM_004525.2(LRP2):c.785A>G (p.Asp262Gly) http://identifiers.org/clinvar/332200 ^@ NM_004525.2(LRP2):c.453T>G (p.Thr151=) http://identifiers.org/clinvar/331742 ^@ NM_021007.2(SCN2A):c.5788A>G (p.Ser1930Gly) http://identifiers.org/clinvar/331761 ^@ NM_021007.2(SCN2A):c.*2039A>G http://identifiers.org/clinvar/334792 ^@ NM_000091.4(COL4A3):c.*315A>C http://identifiers.org/clinvar/331762 ^@ NM_021007.2(SCN2A):c.*2222G>A http://identifiers.org/clinvar/332205 ^@ NM_004525.2(LRP2):c.428-8T>A http://identifiers.org/clinvar/334797 ^@ NM_000091.4(COL4A3):c.*660T>C http://identifiers.org/clinvar/334801 ^@ NM_000091.4(COL4A3):c.*1000C>T http://identifiers.org/clinvar/334127 ^@ NM_000384.2(APOB):c.7405T>A (p.Phe2469Ile) http://identifiers.org/clinvar/332216 ^@ NM_000817.2(GAD1):c.-176G>C http://identifiers.org/clinvar/334129 ^@ NM_000384.2(APOB):c.7181T>C (p.Val2394Ala) http://identifiers.org/clinvar/334147 ^@ NM_000384.2(APOB):c.4143C>A (p.Asp1381Glu) http://identifiers.org/clinvar/334150 ^@ NM_000384.2(APOB):c.3795C>G (p.Asn1265Lys) http://identifiers.org/clinvar/334156 ^@ NM_000384.2(APOB):c.3332+12C>T http://identifiers.org/clinvar/331764 ^@ NM_021007.2(SCN2A):c.*2364T>G http://identifiers.org/clinvar/334813 ^@ NM_000091.4(COL4A3):c.*1739C>T http://identifiers.org/clinvar/334814 ^@ NM_000091.4(COL4A3):c.*1764A>G http://identifiers.org/clinvar/334816 ^@ NM_000091.4(COL4A3):c.*2048C>G http://identifiers.org/clinvar/333989 ^@ NM_001608.3(ACADL):c.*530T>C http://identifiers.org/clinvar/332218 ^@ NM_000817.2(GAD1):c.-161G>A http://identifiers.org/clinvar/331765 ^@ NM_021007.2(SCN2A):c.*2422G>T http://identifiers.org/clinvar/331774 ^@ NM_004482.3(GALNT3):c.*515G>A http://identifiers.org/clinvar/332219 ^@ NM_000817.2(GAD1):c.-161G>T http://identifiers.org/clinvar/332227 ^@ NM_000817.2(GAD1):c.265C>T (p.Arg89Trp) http://identifiers.org/clinvar/332234 ^@ NM_000817.2(GAD1):c.1002+12G>A http://identifiers.org/clinvar/332236 ^@ NM_000817.2(GAD1):c.1251C>T (p.Leu417=) http://identifiers.org/clinvar/334821 ^@ NM_000091.4(COL4A3):c.*2194A>C http://identifiers.org/clinvar/334828 ^@ NM_000091.4(COL4A3):c.*2837_*2839delATA http://identifiers.org/clinvar/331775 ^@ NM_004482.3(GALNT3):c.*318_*319dupTA http://identifiers.org/clinvar/331780 ^@ NM_004482.3(GALNT3):c.*27G>T http://identifiers.org/clinvar/331786 ^@ NM_004482.3(GALNT3):c.507A>G (p.Arg169=) http://identifiers.org/clinvar/332242 ^@ NM_000817.2(GAD1):c.1612-3A>G http://identifiers.org/clinvar/334834 ^@ NM_025243.3(SLC19A3):c.*2109C>T http://identifiers.org/clinvar/334836 ^@ NM_025243.3(SLC19A3):c.*2033A>G http://identifiers.org/clinvar/332246 ^@ NM_000817.2(GAD1):c.*431G>A http://identifiers.org/clinvar/334837 ^@ NM_025243.3(SLC19A3):c.*1996T>C http://identifiers.org/clinvar/334161 ^@ NM_000384.2(APOB):c.2917C>A (p.Leu973Met) http://identifiers.org/clinvar/334838 ^@ NM_025243.3(SLC19A3):c.*1974G>T http://identifiers.org/clinvar/334845 ^@ NM_025243.3(SLC19A3):c.*1813A>G http://identifiers.org/clinvar/332248 ^@ NM_000817.2(GAD1):c.*700C>T http://identifiers.org/clinvar/332251 ^@ NM_000817.2(GAD1):c.*810T>C http://identifiers.org/clinvar/332254 ^@ NM_025000.3(DCAF17):c.-243C>G http://identifiers.org/clinvar/331787 ^@ NM_004482.3(GALNT3):c.504T>C (p.Thr168=) http://identifiers.org/clinvar/331788 ^@ NM_004482.3(GALNT3):c.493G>A (p.Gly165Arg) http://identifiers.org/clinvar/334162 ^@ NM_000384.2(APOB):c.2861C>T (p.Pro954Leu) http://identifiers.org/clinvar/332259 ^@ NM_025000.3(DCAF17):c.-9C>G http://identifiers.org/clinvar/334847 ^@ NM_025243.3(SLC19A3):c.*1740G>C http://identifiers.org/clinvar/332261 ^@ NM_025000.3(DCAF17):c.137A>T (p.Lys46Ile) http://identifiers.org/clinvar/334848 ^@ NM_025243.3(SLC19A3):c.*1696G>T http://identifiers.org/clinvar/331789 ^@ NM_004482.3(GALNT3):c.-227C>T http://identifiers.org/clinvar/331793 ^@ NM_004482.3(GALNT3):c.-295T>A http://identifiers.org/clinvar/334852 ^@ NM_025243.3(SLC19A3):c.*1339C>T http://identifiers.org/clinvar/332262 ^@ NM_025000.3(DCAF17):c.184G>A (p.Glu62Lys) http://identifiers.org/clinvar/334855 ^@ NM_025243.3(SLC19A3):c.*1104T>C http://identifiers.org/clinvar/334859 ^@ NM_025243.3(SLC19A3):c.*1003G>T http://identifiers.org/clinvar/334861 ^@ NM_025243.3(SLC19A3):c.*977delG http://identifiers.org/clinvar/333996 ^@ NM_001608.3(ACADL):c.621G>T (p.Gly207=) http://identifiers.org/clinvar/334001 ^@ NM_001608.3(ACADL):c.113C>T (p.Thr38Ile) http://identifiers.org/clinvar/334165 ^@ NM_000384.2(APOB):c.2740C>T (p.His914Tyr) http://identifiers.org/clinvar/332268 ^@ NM_025000.3(DCAF17):c.913A>G (p.Ile305Val) http://identifiers.org/clinvar/334873 ^@ NM_025243.3(SLC19A3):c.*203C>T http://identifiers.org/clinvar/332271 ^@ NM_025000.3(DCAF17):c.1266+6G>A http://identifiers.org/clinvar/332272 ^@ NM_025000.3(DCAF17):c.1426T>C (p.Tyr476His) http://identifiers.org/clinvar/332275 ^@ NM_025000.3(DCAF17):c.*105A>G http://identifiers.org/clinvar/331799 ^@ NM_024753.4(TTC21B):c.*1087A>T http://identifiers.org/clinvar/331800 ^@ NM_024753.4(TTC21B):c.*910C>T http://identifiers.org/clinvar/332279 ^@ NM_025000.3(DCAF17):c.*530A>G http://identifiers.org/clinvar/332283 ^@ NM_025000.3(DCAF17):c.*808T>A http://identifiers.org/clinvar/331803 ^@ NM_024753.4(TTC21B):c.*730A>C http://identifiers.org/clinvar/331812 ^@ NM_024753.4(TTC21B):c.*516C>T http://identifiers.org/clinvar/334874 ^@ NM_025243.3(SLC19A3):c.*176A>G http://identifiers.org/clinvar/331813 ^@ NM_024753.4(TTC21B):c.*473C>G http://identifiers.org/clinvar/331816 ^@ NM_024753.4(TTC21B):c.*419C>A http://identifiers.org/clinvar/331818 ^@ NM_024753.4(TTC21B):c.*105G>A http://identifiers.org/clinvar/332284 ^@ NM_025000.3(DCAF17):c.*1005A>G http://identifiers.org/clinvar/334875 ^@ NM_025243.3(SLC19A3):c.*106A>G http://identifiers.org/clinvar/334883 ^@ NM_025243.3(SLC19A3):c.99A>G (p.Pro33=) http://identifiers.org/clinvar/331824 ^@ NM_024753.4(TTC21B):c.2815C>T (p.Arg939Trp) http://identifiers.org/clinvar/331835 ^@ NM_024753.4(TTC21B):c.1478A>G (p.Gln493Arg) http://identifiers.org/clinvar/334169 ^@ NM_000384.2(APOB):c.2170G>T (p.Gly724Cys) http://identifiers.org/clinvar/332293 ^@ NM_025000.3(DCAF17):c.*2183C>G http://identifiers.org/clinvar/332297 ^@ NM_025000.3(DCAF17):c.*2340C>T http://identifiers.org/clinvar/331837 ^@ NM_024753.4(TTC21B):c.795+3A>G http://identifiers.org/clinvar/331848 ^@ NM_024753.4(TTC21B):c.-64G>A http://identifiers.org/clinvar/334171 ^@ NM_000384.2(APOB):c.1785C>G (p.Ser595=) http://identifiers.org/clinvar/334884 ^@ NM_025243.3(SLC19A3):c.-52T>C http://identifiers.org/clinvar/331849 ^@ NM_024753.4(TTC21B):c.-75A>C http://identifiers.org/clinvar/334172 ^@ NM_000384.2(APOB):c.1400C>G (p.Ala467Gly) http://identifiers.org/clinvar/334886 ^@ NM_004509.3(SP110):c.*206delA http://identifiers.org/clinvar/334897 ^@ NM_004509.3(SP110):c.1737G>A (p.Met579Ile) http://identifiers.org/clinvar/334905 ^@ NM_004509.3(SP110):c.1200C>T (p.Asp400=) http://identifiers.org/clinvar/331853 ^@ NM_024753.4(TTC21B):c.-94C>T http://identifiers.org/clinvar/332299 ^@ NM_025000.3(DCAF17):c.*2380A>G http://identifiers.org/clinvar/332301 ^@ NM_025000.3(DCAF17):c.*2429A>G http://identifiers.org/clinvar/332304 ^@ NM_025000.3(DCAF17):c.*2747C>T http://identifiers.org/clinvar/331854 ^@ NM_024753.4(TTC21B):c.-107C>T http://identifiers.org/clinvar/332323 ^@ NM_003705.4(SLC25A12):c.*1050G>A http://identifiers.org/clinvar/334908 ^@ NM_004509.3(SP110):c.900G>A (p.Gly300=) http://identifiers.org/clinvar/334173 ^@ NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) http://identifiers.org/clinvar/332325 ^@ NM_003705.4(SLC25A12):c.*994C>T http://identifiers.org/clinvar/332326 ^@ NM_003705.4(SLC25A12):c.*988C>T http://identifiers.org/clinvar/332332 ^@ NM_003705.4(SLC25A12):c.*124G>A http://identifiers.org/clinvar/334175 ^@ NM_000384.2(APOB):c.1061A>G (p.Glu354Gly) http://identifiers.org/clinvar/334918 ^@ NM_004509.3(SP110):c.376G>A (p.Gly126Ser) http://identifiers.org/clinvar/334919 ^@ NM_004509.3(SP110):c.237T>G (p.Ser79=) http://identifiers.org/clinvar/334176 ^@ NM_000384.2(APOB):c.904+11C>G http://identifiers.org/clinvar/331862 ^@ NM_001165963.1(SCN1A):c.*1739C>T http://identifiers.org/clinvar/334926 ^@ NM_152383.4(DIS3L2):c.-58_-54delGAGCT http://identifiers.org/clinvar/334928 ^@ NM_152383.4(DIS3L2):c.34C>T (p.Pro12Ser) http://identifiers.org/clinvar/334178 ^@ NM_000384.2(APOB):c.638A>T (p.Asp213Val) http://identifiers.org/clinvar/334186 ^@ NM_000384.2(APOB):c.354C>A (p.Asn118Lys) http://identifiers.org/clinvar/334931 ^@ NM_152383.4(DIS3L2):c.519C>T (p.Ser173=) http://identifiers.org/clinvar/334188 ^@ NM_000384.2(APOB):c.285C>A (p.Ser95Arg) http://identifiers.org/clinvar/334006 ^@ NM_001875.4(CPS1):c.-76A>G http://identifiers.org/clinvar/334013 ^@ NM_001875.4(CPS1):c.449G>A (p.Gly150Glu) http://identifiers.org/clinvar/334934 ^@ NM_152383.4(DIS3L2):c.951-8A>G http://identifiers.org/clinvar/334014 ^@ NM_001875.4(CPS1):c.528+9A>G http://identifiers.org/clinvar/334935 ^@ NM_152383.4(DIS3L2):c.1158C>T (p.Thr386=) http://identifiers.org/clinvar/332337 ^@ NM_003705.4(SLC25A12):c.1468C>T (p.Arg490Ter) http://identifiers.org/clinvar/331867 ^@ NM_001165963.1(SCN1A):c.*1121T>C http://identifiers.org/clinvar/332339 ^@ NM_003705.4(SLC25A12):c.1418G>A (p.Arg473Gln) http://identifiers.org/clinvar/334942 ^@ NM_152383.4(DIS3L2):c.1908C>T (p.Ser636=) http://identifiers.org/clinvar/332344 ^@ NM_003705.4(SLC25A12):c.466-3C>T http://identifiers.org/clinvar/334018 ^@ NM_001875.4(CPS1):c.948-6C>T http://identifiers.org/clinvar/334026 ^@ NM_001875.4(CPS1):c.2265C>T (p.Ser755=) http://identifiers.org/clinvar/332345 ^@ NM_003705.4(SLC25A12):c.189A>G (p.Val63=) http://identifiers.org/clinvar/331868 ^@ NM_001165963.1(SCN1A):c.*1031A>T http://identifiers.org/clinvar/332348 ^@ NM_003705.4(SLC25A12):c.4G>A (p.Ala2Thr) http://identifiers.org/clinvar/332351 ^@ NM_000210.3(ITGA6):c.-156G>A http://identifiers.org/clinvar/331870 ^@ NM_001165963.1(SCN1A):c.*977T>C http://identifiers.org/clinvar/334035 ^@ NM_001875.4(CPS1):c.4260C>G (p.Leu1420=) http://identifiers.org/clinvar/334036 ^@ NM_001875.4(CPS1):c.4404+4T>A http://identifiers.org/clinvar/331872 ^@ NM_001165963.1(SCN1A):c.*878dupT http://identifiers.org/clinvar/334039 ^@ NM_001875.4(CPS1):c.*187C>T http://identifiers.org/clinvar/334040 ^@ NM_001875.4(CPS1):c.*235A>T http://identifiers.org/clinvar/334945 ^@ NM_152383.4(DIS3L2):c.2187C>T (p.Pro729=) http://identifiers.org/clinvar/334044 ^@ NM_001875.4(CPS1):c.*387C>T http://identifiers.org/clinvar/331873 ^@ NM_001165963.1(SCN1A):c.*721A>G http://identifiers.org/clinvar/331874 ^@ NM_001165963.1(SCN1A):c.*672_*675delGCTT http://identifiers.org/clinvar/331878 ^@ NM_001165963.1(SCN1A):c.*172dupG http://identifiers.org/clinvar/334953 ^@ NM_152383.4(DIS3L2):c.*111G>A http://identifiers.org/clinvar/334046 ^@ NM_001875.4(CPS1):c.*692C>G http://identifiers.org/clinvar/334958 ^@ NM_152383.4(DIS3L2):c.*301dupG http://identifiers.org/clinvar/331885 ^@ NM_001165963.1(SCN1A):c.3573T>C (p.Cys1191=) http://identifiers.org/clinvar/331888 ^@ NM_001165963.1(SCN1A):c.2459T>C (p.Ile820Thr) http://identifiers.org/clinvar/334049 ^@ NM_001875.4(CPS1):c.*777A>G http://identifiers.org/clinvar/334053 ^@ NM_001875.4(CPS1):c.*1040C>T http://identifiers.org/clinvar/331893 ^@ NM_001165963.1(SCN1A):c.2044-14A>T http://identifiers.org/clinvar/331896 ^@ NM_002977.3(SCN9A):c.*3317A>G http://identifiers.org/clinvar/334055 ^@ NM_001875.4(CPS1):c.*1117A>G http://identifiers.org/clinvar/331902 ^@ NM_002977.3(SCN9A):c.*2860C>T http://identifiers.org/clinvar/331910 ^@ NM_002977.3(SCN9A):c.*2344C>T http://identifiers.org/clinvar/334962 ^@ NM_152383.4(DIS3L2):c.*558T>C http://identifiers.org/clinvar/332353 ^@ NM_000210.3(ITGA6):c.-122C>T http://identifiers.org/clinvar/331912 ^@ NM_002977.3(SCN9A):c.*2312A>T http://identifiers.org/clinvar/332356 ^@ NM_000210.3(ITGA6):c.182+11A>G http://identifiers.org/clinvar/334978 ^@ NM_000751.2(CHRND):c.*145C>G http://identifiers.org/clinvar/332357 ^@ NM_000210.3(ITGA6):c.182+15C>T http://identifiers.org/clinvar/331914 ^@ NM_002977.3(SCN9A):c.*2228G>T http://identifiers.org/clinvar/331918 ^@ NM_002977.3(SCN9A):c.*2191G>A http://identifiers.org/clinvar/331920 ^@ NM_002977.3(SCN9A):c.*2154C>G http://identifiers.org/clinvar/332359 ^@ NM_000210.3(ITGA6):c.963G>A (p.Ala321=) http://identifiers.org/clinvar/332360 ^@ NM_000210.3(ITGA6):c.1138G>A (p.Ala380Thr) http://identifiers.org/clinvar/334196 ^@ NM_000465.3(BARD1):c.216-15_216-14delTT http://identifiers.org/clinvar/332366 ^@ NM_000210.3(ITGA6):c.1744A>G (p.Ile582Val) http://identifiers.org/clinvar/332372 ^@ NM_000210.3(ITGA6):c.2245-3delT http://identifiers.org/clinvar/334979 ^@ NM_000751.2(CHRND):c.*149A>G http://identifiers.org/clinvar/334981 ^@ NM_000751.2(CHRND):c.*227G>A http://identifiers.org/clinvar/332374 ^@ NM_000210.3(ITGA6):c.2296G>T (p.Asp766Tyr) http://identifiers.org/clinvar/332375 ^@ NM_000210.3(ITGA6):c.2393C>T (p.Ser798Leu) http://identifiers.org/clinvar/332377 ^@ NM_000210.3(ITGA6):c.2704C>T (p.Arg902Trp) http://identifiers.org/clinvar/334982 ^@ NM_000751.2(CHRND):c.*379C>T http://identifiers.org/clinvar/334201 ^@ NM_000465.3(BARD1):c.-78G>A http://identifiers.org/clinvar/332379 ^@ NM_000210.3(ITGA6):c.2788G>A (p.Val930Met) http://identifiers.org/clinvar/334991 ^@ NM_000751.2(CHRND):c.*885T>C http://identifiers.org/clinvar/334207 ^@ NM_173076.2(ABCA12):c.*810A>G http://identifiers.org/clinvar/334215 ^@ NM_173076.2(ABCA12):c.*396C>T http://identifiers.org/clinvar/331922 ^@ NM_002977.3(SCN9A):c.*2136C>G http://identifiers.org/clinvar/331923 ^@ NM_002977.3(SCN9A):c.*2078C>T http://identifiers.org/clinvar/334216 ^@ NM_173076.2(ABCA12):c.*378G>C http://identifiers.org/clinvar/334222 ^@ NM_173076.2(ABCA12):c.7436+15C>T http://identifiers.org/clinvar/331931 ^@ NM_002977.3(SCN9A):c.*1605T>C http://identifiers.org/clinvar/331930 ^@ NM_002977.3(SCN9A):c.*1605delT http://identifiers.org/clinvar/334224 ^@ NM_173076.2(ABCA12):c.6819A>G (p.Val2273=) http://identifiers.org/clinvar/334992 ^@ NM_000751.2(CHRND):c.*942C>T http://identifiers.org/clinvar/331932 ^@ NM_002977.3(SCN9A):c.*1492C>G http://identifiers.org/clinvar/334997 ^@ NM_000751.2(CHRND):c.*1313G>A http://identifiers.org/clinvar/334226 ^@ NM_173076.2(ABCA12):c.6360A>G (p.Val2120=) http://identifiers.org/clinvar/335000 ^@ NM_005199.4(CHRNG):c.196-9C>T http://identifiers.org/clinvar/335005 ^@ NM_005199.4(CHRNG):c.737T>A (p.Ile246Asn) http://identifiers.org/clinvar/334228 ^@ NM_173076.2(ABCA12):c.6306C>A (p.Tyr2102Ter) http://identifiers.org/clinvar/334230 ^@ NM_173076.2(ABCA12):c.5925C>T (p.Asp1975=) http://identifiers.org/clinvar/334234 ^@ NM_173076.2(ABCA12):c.5548T>C (p.Ser1850Pro) http://identifiers.org/clinvar/334236 ^@ NM_173076.2(ABCA12):c.5381+11_5381+14delTTCT http://identifiers.org/clinvar/334239 ^@ NM_173076.2(ABCA12):c.4941C>T (p.Ile1647=) http://identifiers.org/clinvar/331933 ^@ NM_002977.3(SCN9A):c.*1434dupT http://identifiers.org/clinvar/335006 ^@ NM_005199.4(CHRNG):c.806-13C>T http://identifiers.org/clinvar/334240 ^@ NM_173076.2(ABCA12):c.4915G>A (p.Asp1639Asn) http://identifiers.org/clinvar/334243 ^@ NM_173076.2(ABCA12):c.4533A>G (p.Pro1511=) http://identifiers.org/clinvar/334249 ^@ NM_173076.2(ABCA12):c.3911A>G (p.Lys1304Arg) http://identifiers.org/clinvar/334251 ^@ NM_173076.2(ABCA12):c.3276A>G (p.Lys1092=) http://identifiers.org/clinvar/335007 ^@ NM_005199.4(CHRNG):c.928A>T (p.Thr310Ser) http://identifiers.org/clinvar/335009 ^@ NM_005199.4(CHRNG):c.1036-4_1036-3delCT http://identifiers.org/clinvar/334253 ^@ NM_173076.2(ABCA12):c.2945A>C (p.Lys982Thr) http://identifiers.org/clinvar/334259 ^@ NM_173076.2(ABCA12):c.2033A>G (p.Asn678Ser) http://identifiers.org/clinvar/332380 ^@ NM_000210.3(ITGA6):c.2792A>G (p.Asn931Ser) http://identifiers.org/clinvar/332382 ^@ NM_000210.3(ITGA6):c.2820G>A (p.Pro940=) http://identifiers.org/clinvar/332385 ^@ NM_000210.3(ITGA6):c.2862G>C (p.Ser954=) http://identifiers.org/clinvar/335014 ^@ NM_005199.4(CHRNG):c.1378A>G (p.Asn460Asp) http://identifiers.org/clinvar/335016 ^@ NM_005199.4(CHRNG):c.1528C>T (p.Arg510Cys) http://identifiers.org/clinvar/334263 ^@ NM_173076.2(ABCA12):c.1515T>G (p.Asp505Glu) http://identifiers.org/clinvar/331936 ^@ NM_002977.3(SCN9A):c.*1118_*1119insCA http://identifiers.org/clinvar/331945 ^@ NM_002977.3(SCN9A):c.*669A>G http://identifiers.org/clinvar/334265 ^@ NM_173076.2(ABCA12):c.1428G>A (p.Ala476=) http://identifiers.org/clinvar/335019 ^@ NM_005199.4(CHRNG):c.*131C>T http://identifiers.org/clinvar/335031 ^@ NM_002242.4(KCNJ13):c.*1867T>C http://identifiers.org/clinvar/334267 ^@ NM_173076.2(ABCA12):c.1420C>T (p.Leu474Phe) http://identifiers.org/clinvar/334273 ^@ NM_173076.2(ABCA12):c.1132T>C (p.Leu378=) http://identifiers.org/clinvar/334279 ^@ NM_173076.2(ABCA12):c.-8T>C http://identifiers.org/clinvar/331948 ^@ NM_002977.3(SCN9A):c.*416dupT http://identifiers.org/clinvar/334283 ^@ NM_014140.3(SMARCAL1):c.-164G>A http://identifiers.org/clinvar/331952 ^@ NM_002977.3(SCN9A):c.*235T>C http://identifiers.org/clinvar/331954 ^@ NM_002977.3(SCN9A):c.*217G>A http://identifiers.org/clinvar/331960 ^@ NM_002977.3(SCN9A):c.*18A>G http://identifiers.org/clinvar/332387 ^@ NM_000210.3(ITGA6):c.3006T>C (p.Phe1002=) http://identifiers.org/clinvar/334288 ^@ NM_014140.3(SMARCAL1):c.-48C>A http://identifiers.org/clinvar/334292 ^@ NM_014140.3(SMARCAL1):c.812-15T>C http://identifiers.org/clinvar/334295 ^@ NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) http://identifiers.org/clinvar/334300 ^@ NM_014140.3(SMARCAL1):c.1485+8G>A http://identifiers.org/clinvar/334313 ^@ NM_015488.4(PNKD):c.331A>G (p.Thr111Ala) http://identifiers.org/clinvar/335032 ^@ NM_002242.4(KCNJ13):c.*1839A>G http://identifiers.org/clinvar/335033 ^@ NM_002242.4(KCNJ13):c.*1804G>A http://identifiers.org/clinvar/332388 ^@ NM_000210.3(ITGA6):c.3075G>A (p.Gly1025=) http://identifiers.org/clinvar/332389 ^@ NM_000210.3(ITGA6):c.3132A>G (p.Arg1044=) http://identifiers.org/clinvar/332391 ^@ NM_000210.3(ITGA6):c.*50G>A http://identifiers.org/clinvar/334315 ^@ NM_015488.4(PNKD):c.455G>A (p.Arg152Gln) http://identifiers.org/clinvar/334320 ^@ NM_015488.4(PNKD):c.560G>A (p.Arg187Gln) http://identifiers.org/clinvar/331961 ^@ NM_002977.3(SCN9A):c.5346G>A (p.Ala1782=) http://identifiers.org/clinvar/335035 ^@ NM_002242.4(KCNJ13):c.*1742dupT http://identifiers.org/clinvar/334321 ^@ NM_015488.4(PNKD):c.597C>T (p.Asp199=) http://identifiers.org/clinvar/334326 ^@ NM_015488.4(PNKD):c.785G>A (p.Arg262Gln) http://identifiers.org/clinvar/334327 ^@ NM_015488.4(PNKD):c.939G>A (p.Arg313=) http://identifiers.org/clinvar/334330 ^@ NM_015488.4(PNKD):c.*33C>T http://identifiers.org/clinvar/332400 ^@ NM_000210.3(ITGA6):c.*719T>C http://identifiers.org/clinvar/332406 ^@ NM_000210.3(ITGA6):c.*919A>G http://identifiers.org/clinvar/331962 ^@ NM_002977.3(SCN9A):c.4470+8_4470+9insT http://identifiers.org/clinvar/331964 ^@ NM_002977.3(SCN9A):c.4404_4406delGAA (p.Lys1469del) http://identifiers.org/clinvar/331967 ^@ NM_002977.3(SCN9A):c.3768T>C (p.Asp1256=) http://identifiers.org/clinvar/335039 ^@ NM_002242.4(KCNJ13):c.*1088T>C http://identifiers.org/clinvar/331972 ^@ NM_002977.3(SCN9A):c.3310A>G (p.Ser1104Gly) http://identifiers.org/clinvar/335043 ^@ NM_002242.4(KCNJ13):c.*619C>T http://identifiers.org/clinvar/331974 ^@ NM_002977.3(SCN9A):c.2987G>A (p.Arg996His) http://identifiers.org/clinvar/331977 ^@ NM_002977.3(SCN9A):c.2842-6A>G http://identifiers.org/clinvar/334335 ^@ NM_015488.4(PNKD):c.*311G>T http://identifiers.org/clinvar/331978 ^@ NM_002977.3(SCN9A):c.2841+13delA http://identifiers.org/clinvar/331983 ^@ NM_002977.3(SCN9A):c.2132T>C (p.Leu711Ser) http://identifiers.org/clinvar/332407 ^@ NM_000210.3(ITGA6):c.*1021_*1024dupCTAT http://identifiers.org/clinvar/331989 ^@ NM_002977.3(SCN9A):c.1603-14dupT http://identifiers.org/clinvar/335046 ^@ NM_002242.4(KCNJ13):c.*290T>C http://identifiers.org/clinvar/335060 ^@ NM_002242.4(KCNJ13):c.-74C>T http://identifiers.org/clinvar/334337 ^@ NM_015488.4(PNKD):c.*507G>C http://identifiers.org/clinvar/332410 ^@ NM_000210.3(ITGA6):c.*1221C>T http://identifiers.org/clinvar/332412 ^@ NM_000210.3(ITGA6):c.*1459G>T http://identifiers.org/clinvar/334343 ^@ NM_015488.4(PNKD):c.*982C>T http://identifiers.org/clinvar/332413 ^@ NM_000210.3(ITGA6):c.*1660dupG http://identifiers.org/clinvar/334349 ^@ NM_015488.4(PNKD):c.*1193C>T http://identifiers.org/clinvar/335065 ^@ NM_000541.4(SAG):c.-11G>A http://identifiers.org/clinvar/334350 ^@ NM_015488.4(PNKD):c.*1476A>G http://identifiers.org/clinvar/334351 ^@ NM_015488.4(PNKD):c.*1723T>C http://identifiers.org/clinvar/334352 ^@ NM_004328.4(BCS1L):c.-262G>T http://identifiers.org/clinvar/334354 ^@ NM_004328.4(BCS1L):c.-94T>G http://identifiers.org/clinvar/335067 ^@ NM_000541.4(SAG):c.226A>G (p.Ile76Val) http://identifiers.org/clinvar/335070 ^@ NM_000541.4(SAG):c.820C>T (p.Pro274Ser) http://identifiers.org/clinvar/335073 ^@ NM_000541.4(SAG):c.1167T>A (p.Asp389Glu) http://identifiers.org/clinvar/335075 ^@ NM_000541.4(SAG):c.*7C>T http://identifiers.org/clinvar/334357 ^@ NM_004328.4(BCS1L):c.258T>C (p.His86=) http://identifiers.org/clinvar/335076 ^@ NM_000541.4(SAG):c.*89C>T http://identifiers.org/clinvar/335078 ^@ NM_000541.4(SAG):c.*98G>A http://identifiers.org/clinvar/331990 ^@ NM_002977.3(SCN9A):c.1482G>T (p.Lys494Asn) http://identifiers.org/clinvar/332419 ^@ NM_000210.3(ITGA6):c.*1935G>A http://identifiers.org/clinvar/331991 ^@ NM_002977.3(SCN9A):c.1347T>C (p.Ser449=) http://identifiers.org/clinvar/335084 ^@ NM_000463.2(UGT1A1):c.*211T>C http://identifiers.org/clinvar/331993 ^@ NM_002977.3(SCN9A):c.1207A>C (p.Met403Leu) http://identifiers.org/clinvar/331994 ^@ NM_002977.3(SCN9A):c.1139T>A (p.Ile380Asn) http://identifiers.org/clinvar/335089 ^@ NM_004369.3(COL6A3):c.*665G>T http://identifiers.org/clinvar/335098 ^@ NM_004369.3(COL6A3):c.8725G>A (p.Ala2909Thr) http://identifiers.org/clinvar/335100 ^@ NM_004369.3(COL6A3):c.8189C>T (p.Ala2730Val) http://identifiers.org/clinvar/334363 ^@ NM_000784.3(CYP27A1):c.-335C>T http://identifiers.org/clinvar/334365 ^@ NM_000784.3(CYP27A1):c.-182C>T http://identifiers.org/clinvar/334366 ^@ NM_000784.3(CYP27A1):c.-162C>T http://identifiers.org/clinvar/334371 ^@ NM_000784.3(CYP27A1):c.859G>A (p.Asp287Asn) http://identifiers.org/clinvar/334375 ^@ NM_000784.3(CYP27A1):c.*47G>A http://identifiers.org/clinvar/331998 ^@ NM_002977.3(SCN9A):c.685C>A (p.Pro229Thr) http://identifiers.org/clinvar/334378 ^@ NM_025216.2(WNT10A):c.-433C>G http://identifiers.org/clinvar/332432 ^@ NM_000079.3(CHRNA1):c.*358C>T http://identifiers.org/clinvar/335102 ^@ NM_004369.3(COL6A3):c.8097G>A (p.Val2699=) http://identifiers.org/clinvar/331999 ^@ NM_002977.3(SCN9A):c.274A>T (p.Asn92Tyr) http://identifiers.org/clinvar/335103 ^@ NM_004369.3(COL6A3):c.8050A>C (p.Lys2684Gln) http://identifiers.org/clinvar/332013 ^@ NM_003742.2(ABCB11):c.*420A>G http://identifiers.org/clinvar/332436 ^@ NM_000079.3(CHRNA1):c.1294G>A (p.Gly432Arg) http://identifiers.org/clinvar/332016 ^@ NM_003742.2(ABCB11):c.*252T>A http://identifiers.org/clinvar/335104 ^@ NM_004369.3(COL6A3):c.7755T>C (p.His2585=) http://identifiers.org/clinvar/332021 ^@ NM_003742.2(ABCB11):c.3190T>C (p.Tyr1064His) http://identifiers.org/clinvar/332439 ^@ NM_000079.3(CHRNA1):c.1247C>T (p.Ala416Val) http://identifiers.org/clinvar/332022 ^@ NM_003742.2(ABCB11):c.2927A>G (p.Gln976Arg) http://identifiers.org/clinvar/335107 ^@ NM_004369.3(COL6A3):c.7308G>A (p.Glu2436=) http://identifiers.org/clinvar/332027 ^@ NM_003742.2(ABCB11):c.2515A>G (p.Met839Val) http://identifiers.org/clinvar/334395 ^@ NM_025216.2(WNT10A):c.315G>C (p.Trp105Cys) http://identifiers.org/clinvar/334400 ^@ NM_025216.2(WNT10A):c.498C>T (p.Asp166=) http://identifiers.org/clinvar/335110 ^@ NM_004369.3(COL6A3):c.6879+15C>T http://identifiers.org/clinvar/334405 ^@ NM_025216.2(WNT10A):c.817C>A (p.Leu273Ile) http://identifiers.org/clinvar/334408 ^@ NM_025216.2(WNT10A):c.841C>G (p.Pro281Ala) http://identifiers.org/clinvar/334411 ^@ NM_025216.2(WNT10A):c.1017C>T (p.Phe339=) http://identifiers.org/clinvar/334412 ^@ NM_025216.2(WNT10A):c.1049C>T (p.Pro350Leu) http://identifiers.org/clinvar/335113 ^@ NM_004369.3(COL6A3):c.6211-23_6211-14delAATGCCTTTGinsTTTTGC http://identifiers.org/clinvar/332029 ^@ NM_003742.2(ABCB11):c.2092C>T (p.Arg698Cys) http://identifiers.org/clinvar/335116 ^@ NM_004369.3(COL6A3):c.5833G>A (p.Val1945Met) http://identifiers.org/clinvar/334418 ^@ NM_025216.2(WNT10A):c.*115C>T http://identifiers.org/clinvar/334422 ^@ NM_025216.2(WNT10A):c.*431C>T http://identifiers.org/clinvar/334426 ^@ NM_002181.3(IHH):c.*397G>A http://identifiers.org/clinvar/332442 ^@ NM_000079.3(CHRNA1):c.813G>A (p.Leu271=) http://identifiers.org/clinvar/332448 ^@ NM_000079.3(CHRNA1):c.319C>T (p.Arg107Cys) http://identifiers.org/clinvar/332030 ^@ NM_003742.2(ABCB11):c.2075+7T>A http://identifiers.org/clinvar/332032 ^@ NM_003742.2(ABCB11):c.1699G>A (p.Val567Ile) http://identifiers.org/clinvar/335120 ^@ NM_004369.3(COL6A3):c.5252C>T (p.Thr1751Met) http://identifiers.org/clinvar/332450 ^@ NM_000079.3(CHRNA1):c.224G>A (p.Arg75His) http://identifiers.org/clinvar/335125 ^@ NM_004369.3(COL6A3):c.3795C>A (p.Gly1265=) http://identifiers.org/clinvar/332451 ^@ NM_000079.3(CHRNA1):c.111C>T (p.Ser37=) http://identifiers.org/clinvar/332452 ^@ NM_000079.3(CHRNA1):c.-37A>G http://identifiers.org/clinvar/332454 ^@ NM_001822.5(CHN1):c.*687_*691delATTAA http://identifiers.org/clinvar/334436 ^@ NM_002181.3(IHH):c.857C>T (p.Pro286Leu) http://identifiers.org/clinvar/334444 ^@ NM_002181.3(IHH):c.229C>A (p.Arg77Ser) http://identifiers.org/clinvar/332039 ^@ NM_003742.2(ABCB11):c.-78C>T http://identifiers.org/clinvar/335129 ^@ NM_004369.3(COL6A3):c.3412G>A (p.Val1138Ile) http://identifiers.org/clinvar/335130 ^@ NM_004369.3(COL6A3):c.3286C>T (p.Arg1096Cys) http://identifiers.org/clinvar/332048 ^@ NM_004525.2(LRP2):c.*1127_*1129dupTTT http://identifiers.org/clinvar/332060 ^@ NM_004525.2(LRP2):c.*444G>A http://identifiers.org/clinvar/332070 ^@ NM_004525.2(LRP2):c.13543G>A (p.Gly4515Arg) http://identifiers.org/clinvar/332072 ^@ NM_004525.2(LRP2):c.13384C>T (p.Pro4462Ser) http://identifiers.org/clinvar/335135 ^@ NM_004369.3(COL6A3):c.2189A>G (p.His730Arg) http://identifiers.org/clinvar/332076 ^@ NM_004525.2(LRP2):c.12812-14C>T http://identifiers.org/clinvar/332461 ^@ NM_001822.5(CHN1):c.*28T>C http://identifiers.org/clinvar/334445 ^@ NM_002181.3(IHH):c.228G>A (p.Glu76=) http://identifiers.org/clinvar/335143 ^@ NM_004369.3(COL6A3):c.1063G>A (p.Ala355Thr) http://identifiers.org/clinvar/332079 ^@ NM_004525.2(LRP2):c.12687T>C (p.Gly4229=) http://identifiers.org/clinvar/332081 ^@ NM_004525.2(LRP2):c.12591-8T>C http://identifiers.org/clinvar/332084 ^@ NM_004525.2(LRP2):c.12379C>A (p.Arg4127Ser) http://identifiers.org/clinvar/335144 ^@ NM_004369.3(COL6A3):c.466G>T (p.Asp156Tyr) http://identifiers.org/clinvar/335145 ^@ NM_004369.3(COL6A3):c.461C>T (p.Ser154Leu) http://identifiers.org/clinvar/332086 ^@ NM_004525.2(LRP2):c.12165G>C (p.Leu4055Phe) http://identifiers.org/clinvar/335152 ^@ NM_004544.3(NDUFA10):c.*3450G>A http://identifiers.org/clinvar/335154 ^@ NM_004544.3(NDUFA10):c.*3349G>A http://identifiers.org/clinvar/335161 ^@ NM_004544.3(NDUFA10):c.*3067C>T http://identifiers.org/clinvar/334446 ^@ NM_002181.3(IHH):c.227A>C (p.Glu76Ala) http://identifiers.org/clinvar/332463 ^@ NM_001822.5(CHN1):c.964+6T>G http://identifiers.org/clinvar/332466 ^@ NM_001822.5(CHN1):c.628-15_628-14delCT http://identifiers.org/clinvar/332468 ^@ NM_001822.5(CHN1):c.500C>T (p.Thr167Ile) http://identifiers.org/clinvar/332089 ^@ NM_004525.2(LRP2):c.11663G>A (p.Arg3888His) http://identifiers.org/clinvar/332470 ^@ NM_001822.5(CHN1):c.-36C>T http://identifiers.org/clinvar/332471 ^@ NM_001822.5(CHN1):c.-68G>A http://identifiers.org/clinvar/335164 ^@ NM_004544.3(NDUFA10):c.*2649G>A http://identifiers.org/clinvar/335170 ^@ NM_004544.3(NDUFA10):c.*2192T>A http://identifiers.org/clinvar/332482 ^@ NM_002148.3(HOXD10):c.465T>C (p.Ser155=) http://identifiers.org/clinvar/332483 ^@ NM_002148.3(HOXD10):c.543C>A (p.Asn181Lys) http://identifiers.org/clinvar/334449 ^@ NM_001927.3(DES):c.-74C>T http://identifiers.org/clinvar/335172 ^@ NM_004544.3(NDUFA10):c.*2111G>A http://identifiers.org/clinvar/335177 ^@ NM_004544.3(NDUFA10):c.*1894_*1914del21insGGG http://identifiers.org/clinvar/332485 ^@ NM_002148.3(HOXD10):c.581A>G (p.Gln194Arg) http://identifiers.org/clinvar/335179 ^@ NM_004544.3(NDUFA10):c.*1262C>T http://identifiers.org/clinvar/335190 ^@ NM_004544.3(NDUFA10):c.*546G>A http://identifiers.org/clinvar/335194 ^@ NM_004544.3(NDUFA10):c.*412A>G http://identifiers.org/clinvar/334451 ^@ NM_001927.3(DES):c.*198G>A http://identifiers.org/clinvar/334453 ^@ NM_001927.3(DES):c.*468G>T http://identifiers.org/clinvar/335198 ^@ NM_004544.3(NDUFA10):c.*308C>T http://identifiers.org/clinvar/335202 ^@ NM_004544.3(NDUFA10):c.549T>C (p.Cys183=) http://identifiers.org/clinvar/335205 ^@ NM_004544.3(NDUFA10):c.-87A>C http://identifiers.org/clinvar/334458 ^@ NM_015311.2(OBSL1):c.*102_*103insTA http://identifiers.org/clinvar/334460 ^@ NM_015311.2(OBSL1):c.5657G>A (p.Ser1886Asn) http://identifiers.org/clinvar/334465 ^@ NM_015311.2(OBSL1):c.4877-15C>G http://identifiers.org/clinvar/332094 ^@ NM_004525.2(LRP2):c.11270G>A (p.Arg3757Gln) http://identifiers.org/clinvar/332097 ^@ NM_004525.2(LRP2):c.10992G>A (p.Ser3664=) http://identifiers.org/clinvar/334468 ^@ NM_015311.2(OBSL1):c.4778G>A (p.Arg1593His) http://identifiers.org/clinvar/334471 ^@ NM_015311.2(OBSL1):c.4477G>A (p.Asp1493Asn) http://identifiers.org/clinvar/335208 ^@ NM_004321.7(KIF1A):c.*3596C>T http://identifiers.org/clinvar/335210 ^@ NM_004321.7(KIF1A):c.*3494T>C http://identifiers.org/clinvar/334484 ^@ NM_015311.2(OBSL1):c.4067-11G>T http://identifiers.org/clinvar/334494 ^@ NM_015311.2(OBSL1):c.3684A>G (p.Arg1228=) http://identifiers.org/clinvar/334505 ^@ NM_015311.2(OBSL1):c.2587C>T (p.Arg863Cys) http://identifiers.org/clinvar/334506 ^@ NM_015311.2(OBSL1):c.2261A>G (p.Gln754Arg) http://identifiers.org/clinvar/332488 ^@ NM_002148.3(HOXD10):c.987G>C (p.Arg329=) http://identifiers.org/clinvar/334507 ^@ NM_015311.2(OBSL1):c.2188A>C (p.Thr730Pro) http://identifiers.org/clinvar/334509 ^@ NM_015311.2(OBSL1):c.2101G>A (p.Gly701Ser) http://identifiers.org/clinvar/334512 ^@ NM_015311.2(OBSL1):c.2055C>A (p.Ala685=) http://identifiers.org/clinvar/334518 ^@ NM_015311.2(OBSL1):c.1787G>A (p.Ser596Asn) http://identifiers.org/clinvar/332490 ^@ NM_002148.3(HOXD10):c.*2T>C http://identifiers.org/clinvar/332099 ^@ NM_004525.2(LRP2):c.10769-9T>G http://identifiers.org/clinvar/332497 ^@ NM_002148.3(HOXD10):c.*233_*234delTA http://identifiers.org/clinvar/332502 ^@ NM_002148.3(HOXD10):c.*235delAinsTATATATATATATATAT http://identifiers.org/clinvar/332512 ^@ NM_003659.3(AGPS):c.83A>T (p.Asp28Val) http://identifiers.org/clinvar/332511 ^@ NM_003659.3(AGPS):c.92_97dupCGGACC (p.Asp32_Arg33insProAsp) http://identifiers.org/clinvar/332100 ^@ NM_004525.2(LRP2):c.10768+12C>T http://identifiers.org/clinvar/332104 ^@ NM_004525.2(LRP2):c.10282A>G (p.Arg3428Gly) http://identifiers.org/clinvar/332516 ^@ NM_003659.3(AGPS):c.793C>T (p.Arg265Ter) http://identifiers.org/clinvar/334520 ^@ NM_015311.2(OBSL1):c.1512C>T (p.Thr504=) http://identifiers.org/clinvar/332119 ^@ NM_004525.2(LRP2):c.8901C>G (p.Pro2967=) http://identifiers.org/clinvar/332125 ^@ NM_004525.2(LRP2):c.8530G>A (p.Gly2844Arg) http://identifiers.org/clinvar/335211 ^@ NM_004321.7(KIF1A):c.*3488G>A http://identifiers.org/clinvar/332130 ^@ NM_004525.2(LRP2):c.7866C>T (p.Asp2622=) http://identifiers.org/clinvar/332132 ^@ NM_004525.2(LRP2):c.7747G>A (p.Val2583Met) http://identifiers.org/clinvar/332136 ^@ NM_004525.2(LRP2):c.7343A>G (p.Tyr2448Cys) http://identifiers.org/clinvar/335212 ^@ NM_004321.7(KIF1A):c.*3410C>T http://identifiers.org/clinvar/335213 ^@ NM_004321.7(KIF1A):c.*3345G>A http://identifiers.org/clinvar/334527 ^@ NM_015311.2(OBSL1):c.1075G>A (p.Val359Met) http://identifiers.org/clinvar/335217 ^@ NM_004321.7(KIF1A):c.*2954G>A http://identifiers.org/clinvar/334529 ^@ NM_015311.2(OBSL1):c.851G>A (p.Arg284His) http://identifiers.org/clinvar/335220 ^@ NM_004321.7(KIF1A):c.*2738G>C http://identifiers.org/clinvar/332522 ^@ NM_003659.3(AGPS):c.1698-14T>C http://identifiers.org/clinvar/332524 ^@ NM_003659.3(AGPS):c.1855+6C>A http://identifiers.org/clinvar/332525 ^@ NM_003659.3(AGPS):c.*118A>G http://identifiers.org/clinvar/334540 ^@ NM_015311.2(OBSL1):c.-42delT http://identifiers.org/clinvar/334548 ^@ NM_015311.2(OBSL1):c.-190C>T http://identifiers.org/clinvar/332538 ^@ NM_003659.3(AGPS):c.*865A>G http://identifiers.org/clinvar/335223 ^@ NM_004321.7(KIF1A):c.*2543C>T http://identifiers.org/clinvar/332540 ^@ NM_003659.3(AGPS):c.*947T>G http://identifiers.org/clinvar/334551 ^@ NM_181457.3(PAX3):c.*200C>T http://identifiers.org/clinvar/334561 ^@ NM_181457.3(PAX3):c.126C>A (p.Gly42=) http://identifiers.org/clinvar/332541 ^@ NM_003659.3(AGPS):c.*1105dupT http://identifiers.org/clinvar/332146 ^@ NM_004525.2(LRP2):c.6511A>G (p.Ile2171Val) http://identifiers.org/clinvar/335235 ^@ NM_004321.7(KIF1A):c.*1743G>A http://identifiers.org/clinvar/335238 ^@ NM_004321.7(KIF1A):c.*1685G>C http://identifiers.org/clinvar/335239 ^@ NM_004321.7(KIF1A):c.*1615C>T http://identifiers.org/clinvar/335242 ^@ NM_004321.7(KIF1A):c.*1187C>T http://identifiers.org/clinvar/332147 ^@ NM_004525.2(LRP2):c.6420T>C (p.His2140=) http://identifiers.org/clinvar/335248 ^@ NM_004321.7(KIF1A):c.*249dupG http://identifiers.org/clinvar/334570 ^@ NM_003590.4(CUL3):c.*3789C>T http://identifiers.org/clinvar/332150 ^@ NM_004525.2(LRP2):c.6130G>A (p.Ala2044Thr) http://identifiers.org/clinvar/335253 ^@ NM_004321.7(KIF1A):c.*23C>A http://identifiers.org/clinvar/332155 ^@ NM_004525.2(LRP2):c.5827-7C>A http://identifiers.org/clinvar/332163 ^@ NM_004525.2(LRP2):c.5107C>T (p.Pro1703Ser) http://identifiers.org/clinvar/335255 ^@ NM_004321.7(KIF1A):c.4722G>A (p.Pro1574=) http://identifiers.org/clinvar/335259 ^@ NM_004321.7(KIF1A):c.4441-5C>T http://identifiers.org/clinvar/332165 ^@ NM_004525.2(LRP2):c.5005A>G (p.Asn1669Asp) http://identifiers.org/clinvar/332543 ^@ NM_003659.3(AGPS):c.*1106A>T http://identifiers.org/clinvar/335260 ^@ NM_004321.7(KIF1A):c.4226C>T (p.Pro1409Leu) http://identifiers.org/clinvar/332547 ^@ NM_003659.3(AGPS):c.*1716_*1718delTGA http://identifiers.org/clinvar/332557 ^@ NM_003659.3(AGPS):c.*1866_*1867delAT http://identifiers.org/clinvar/332558 ^@ NM_003659.3(AGPS):c.*1878_*1879dupGT http://identifiers.org/clinvar/335264 ^@ NM_004321.7(KIF1A):c.3807C>T (p.Ser1269=) http://identifiers.org/clinvar/334574 ^@ NM_003590.4(CUL3):c.*3736delT http://identifiers.org/clinvar/332569 ^@ NM_003659.3(AGPS):c.*2437A>G http://identifiers.org/clinvar/335265 ^@ NM_004321.7(KIF1A):c.3598+9G>A http://identifiers.org/clinvar/332574 ^@ NM_003659.3(AGPS):c.*2621C>T http://identifiers.org/clinvar/332178 ^@ NM_004525.2(LRP2):c.3617G>A (p.Arg1206His) http://identifiers.org/clinvar/332582 ^@ NM_003659.3(AGPS):c.*3381G>A http://identifiers.org/clinvar/334576 ^@ NM_003590.4(CUL3):c.*3665T>A http://identifiers.org/clinvar/335267 ^@ NM_004321.7(KIF1A):c.3549T>C (p.His1183=) http://identifiers.org/clinvar/332186 ^@ NM_004525.2(LRP2):c.2869A>G (p.Ile957Val) http://identifiers.org/clinvar/335269 ^@ NM_004321.7(KIF1A):c.3369G>A (p.Arg1123=) http://identifiers.org/clinvar/335285 ^@ NM_004321.7(KIF1A):c.183+7C>T http://identifiers.org/clinvar/332583 ^@ NM_003659.3(AGPS):c.*3558C>T http://identifiers.org/clinvar/335297 ^@ NM_000030.2(AGXT):c.601G>A (p.Asp201Asn) http://identifiers.org/clinvar/332187 ^@ NM_004525.2(LRP2):c.2726A>G (p.His909Arg) http://identifiers.org/clinvar/334578 ^@ NM_003590.4(CUL3):c.*3463T>C http://identifiers.org/clinvar/332188 ^@ NM_004525.2(LRP2):c.2599A>G (p.Thr867Ala) http://identifiers.org/clinvar/334580 ^@ NM_003590.4(CUL3):c.*3367T>C http://identifiers.org/clinvar/335298 ^@ NM_000030.2(AGXT):c.901C>T (p.Arg301Cys) http://identifiers.org/clinvar/334587 ^@ NM_003590.4(CUL3):c.*2923A>C http://identifiers.org/clinvar/334592 ^@ NM_003590.4(CUL3):c.*2766G>C http://identifiers.org/clinvar/334594 ^@ NM_003590.4(CUL3):c.*2653G>A http://identifiers.org/clinvar/334598 ^@ NM_003590.4(CUL3):c.*2424C>T http://identifiers.org/clinvar/332585 ^@ NM_003659.3(AGPS):c.*3854dupT http://identifiers.org/clinvar/332587 ^@ NM_003659.3(AGPS):c.*3953A>G http://identifiers.org/clinvar/335299 ^@ NM_000030.2(AGXT):c.930C>T (p.Phe310=) http://identifiers.org/clinvar/335307 ^@ NM_152783.4(D2HGDH):c.-99A>G http://identifiers.org/clinvar/332589 ^@ NM_003659.3(AGPS):c.*4098C>T http://identifiers.org/clinvar/335311 ^@ NM_152783.4(D2HGDH):c.424G>A (p.Val142Ile) http://identifiers.org/clinvar/335314 ^@ NM_152783.4(D2HGDH):c.567G>A (p.Pro189=) http://identifiers.org/clinvar/332591 ^@ NM_003659.3(AGPS):c.*4232A>G http://identifiers.org/clinvar/332598 ^@ NM_003659.3(AGPS):c.*4910C>T http://identifiers.org/clinvar/332603 ^@ NM_003659.3(AGPS):c.*5072T>G http://identifiers.org/clinvar/334601 ^@ NM_003590.4(CUL3):c.*2193G>A http://identifiers.org/clinvar/335317 ^@ NM_152783.4(D2HGDH):c.1183C>T (p.Arg395Trp) http://identifiers.org/clinvar/335327 ^@ NM_152783.4(D2HGDH):c.*27C>T http://identifiers.org/clinvar/334609 ^@ NM_003590.4(CUL3):c.*1872G>C http://identifiers.org/clinvar/335328 ^@ NM_152783.4(D2HGDH):c.*87C>T http://identifiers.org/clinvar/334610 ^@ NM_003590.4(CUL3):c.*1774G>T http://identifiers.org/clinvar/334615 ^@ NM_003590.4(CUL3):c.*1454_*1456delAAC http://identifiers.org/clinvar/334623 ^@ NM_003590.4(CUL3):c.*265_*269delCTGTA http://identifiers.org/clinvar/334625 ^@ NM_003590.4(CUL3):c.*89A>T http://identifiers.org/clinvar/332193 ^@ NM_004525.2(LRP2):c.2004G>C (p.Gly668=) http://identifiers.org/clinvar/335334 ^@ NM_152783.4(D2HGDH):c.*284C>T http://identifiers.org/clinvar/332194 ^@ NM_004525.2(LRP2):c.1973A>T (p.Tyr658Phe) http://identifiers.org/clinvar/335337 ^@ NM_152783.4(D2HGDH):c.*427G>A http://identifiers.org/clinvar/335338 ^@ NM_152783.4(D2HGDH):c.*449C>T http://identifiers.org/clinvar/334633 ^@ NM_003590.4(CUL3):c.600C>G (p.Val200=) http://identifiers.org/clinvar/332195 ^@ NM_004525.2(LRP2):c.1973A>G (p.Tyr658Cys) http://identifiers.org/clinvar/332607 ^@ NM_003659.3(AGPS):c.*5453C>T http://identifiers.org/clinvar/335348 ^@ NM_152783.4(D2HGDH):c.*717C>G http://identifiers.org/clinvar/335350 ^@ NM_152783.4(D2HGDH):c.*801A>G http://identifiers.org/clinvar/332196 ^@ NM_004525.2(LRP2):c.1923T>C (p.Ala641=) http://identifiers.org/clinvar/335351 ^@ NM_001035256.2(POMC):c.*120A>G http://identifiers.org/clinvar/335356 ^@ NM_001035256.2(POMC):c.282C>T (p.Ser94=) http://identifiers.org/clinvar/334634 ^@ NM_003590.4(CUL3):c.310A>T (p.Thr104Ser) http://identifiers.org/clinvar/334641 ^@ NM_000092.4(COL4A4):c.*4393G>T http://identifiers.org/clinvar/334646 ^@ NM_000092.4(COL4A4):c.*4164C>T http://identifiers.org/clinvar/332208 ^@ NM_004525.2(LRP2):c.149C>G (p.Thr50Ser) http://identifiers.org/clinvar/332210 ^@ NM_004525.2(LRP2):c.-147G>C http://identifiers.org/clinvar/332609 ^@ NM_003659.3(AGPS):c.*5506T>C http://identifiers.org/clinvar/332211 ^@ NM_004525.2(LRP2):c.-178G>A http://identifiers.org/clinvar/334647 ^@ NM_000092.4(COL4A4):c.*4135A>T http://identifiers.org/clinvar/334650 ^@ NM_000092.4(COL4A4):c.*4004_*4005delAA http://identifiers.org/clinvar/332613 ^@ NM_003690.4(PRKRA):c.*313G>A http://identifiers.org/clinvar/335358 ^@ NM_001035256.2(POMC):c.18C>T (p.Cys6=) http://identifiers.org/clinvar/334653 ^@ NM_000092.4(COL4A4):c.*3938A>G http://identifiers.org/clinvar/335359 ^@ NM_001035256.2(POMC):c.4C>T (p.Pro2Ser) http://identifiers.org/clinvar/332213 ^@ NM_000817.2(GAD1):c.-288T>C http://identifiers.org/clinvar/332617 ^@ NM_003690.4(PRKRA):c.*159T>C http://identifiers.org/clinvar/332620 ^@ NM_003690.4(PRKRA):c.*3C>T http://identifiers.org/clinvar/332214 ^@ NM_000817.2(GAD1):c.-255G>A http://identifiers.org/clinvar/332217 ^@ NM_000817.2(GAD1):c.-170G>A http://identifiers.org/clinvar/332621 ^@ NM_003690.4(PRKRA):c.870C>T (p.Ser290=) http://identifiers.org/clinvar/335362 ^@ NM_001035256.2(POMC):c.-203A>G http://identifiers.org/clinvar/332622 ^@ NM_003690.4(PRKRA):c.784+15T>C http://identifiers.org/clinvar/332626 ^@ NM_003690.4(PRKRA):c.549T>C (p.Asn183=) http://identifiers.org/clinvar/334656 ^@ NM_000092.4(COL4A4):c.*3690A>G http://identifiers.org/clinvar/335363 ^@ NM_000182.4(HADHA):c.*510A>T http://identifiers.org/clinvar/334660 ^@ NM_000092.4(COL4A4):c.*3461A>G http://identifiers.org/clinvar/335369 ^@ NM_000182.4(HADHA):c.*375_*376delGT http://identifiers.org/clinvar/332222 ^@ NM_000817.2(GAD1):c.-53C>A http://identifiers.org/clinvar/335375 ^@ NM_000182.4(HADHA):c.1912A>G (p.Ile638Val) http://identifiers.org/clinvar/332636 ^@ NM_003690.4(PRKRA):c.-11C>T http://identifiers.org/clinvar/332225 ^@ NM_000817.2(GAD1):c.17C>T (p.Pro6Leu) http://identifiers.org/clinvar/332229 ^@ NM_000817.2(GAD1):c.380A>T (p.Tyr127Phe) http://identifiers.org/clinvar/332640 ^@ NM_003690.4(PRKRA):c.-117C>T http://identifiers.org/clinvar/332232 ^@ NM_000817.2(GAD1):c.807G>A (p.Pro269=) http://identifiers.org/clinvar/335377 ^@ NM_000182.4(HADHA):c.1794T>C (p.His598=) http://identifiers.org/clinvar/332237 ^@ NM_000817.2(GAD1):c.1252G>T (p.Val418Phe) http://identifiers.org/clinvar/332641 ^@ NM_003690.4(PRKRA):c.-133C>G http://identifiers.org/clinvar/332644 ^@ NM_003690.4(PRKRA):c.-177G>A http://identifiers.org/clinvar/332645 ^@ NM_003690.4(PRKRA):c.-181C>T http://identifiers.org/clinvar/332238 ^@ NM_000817.2(GAD1):c.1290G>A (p.Met430Ile) http://identifiers.org/clinvar/332245 ^@ NM_000817.2(GAD1):c.*394G>A http://identifiers.org/clinvar/332253 ^@ NM_000817.2(GAD1):c.*1205G>A http://identifiers.org/clinvar/335388 ^@ NM_000182.4(HADHA):c.79C>T (p.Arg27Cys) http://identifiers.org/clinvar/335394 ^@ NM_000183.2(HADHB):c.-202G>A http://identifiers.org/clinvar/335398 ^@ NM_000183.2(HADHB):c.-173T>C http://identifiers.org/clinvar/335399 ^@ NM_000183.2(HADHB):c.-124C>G http://identifiers.org/clinvar/332255 ^@ NM_025000.3(DCAF17):c.-206C>G http://identifiers.org/clinvar/332257 ^@ NM_025000.3(DCAF17):c.-198T>C http://identifiers.org/clinvar/332264 ^@ NM_025000.3(DCAF17):c.230+15A>G http://identifiers.org/clinvar/332270 ^@ NM_025000.3(DCAF17):c.1091+13A>G http://identifiers.org/clinvar/335401 ^@ NM_000183.2(HADHB):c.64+11T>C http://identifiers.org/clinvar/332278 ^@ NM_025000.3(DCAF17):c.*350G>A http://identifiers.org/clinvar/332281 ^@ NM_025000.3(DCAF17):c.*676T>G http://identifiers.org/clinvar/332292 ^@ NM_025000.3(DCAF17):c.*2066A>G http://identifiers.org/clinvar/334662 ^@ NM_000092.4(COL4A4):c.*3299A>G http://identifiers.org/clinvar/332647 ^@ NM_001042702.3(DFNB59):c.-283C>G http://identifiers.org/clinvar/335409 ^@ NM_000183.2(HADHB):c.*52A>G http://identifiers.org/clinvar/332652 ^@ NM_001042702.3(DFNB59):c.-112G>T http://identifiers.org/clinvar/334668 ^@ NM_000092.4(COL4A4):c.*2259G>A http://identifiers.org/clinvar/334676 ^@ NM_000092.4(COL4A4):c.*1687T>G http://identifiers.org/clinvar/334678 ^@ NM_000092.4(COL4A4):c.*1349A>C http://identifiers.org/clinvar/334682 ^@ NM_000092.4(COL4A4):c.*1073delC http://identifiers.org/clinvar/332655 ^@ NM_001042702.3(DFNB59):c.-64C>T http://identifiers.org/clinvar/332658 ^@ NM_001042702.3(DFNB59):c.-22-6T>A http://identifiers.org/clinvar/332294 ^@ NM_025000.3(DCAF17):c.*2202A>G http://identifiers.org/clinvar/332661 ^@ NM_001042702.3(DFNB59):c.778A>G (p.Met260Val) http://identifiers.org/clinvar/332662 ^@ NM_133378.4(TTN):c.*1015A>G http://identifiers.org/clinvar/332665 ^@ NM_133378.4(TTN):c.*913C>A http://identifiers.org/clinvar/332667 ^@ NM_133378.4(TTN):c.*636T>G http://identifiers.org/clinvar/334683 ^@ NM_000092.4(COL4A4):c.*864C>G http://identifiers.org/clinvar/334690 ^@ NM_000092.4(COL4A4):c.*581G>A http://identifiers.org/clinvar/334704 ^@ NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) http://identifiers.org/clinvar/332668 ^@ NM_133378.4(TTN):c.*623G>A http://identifiers.org/clinvar/332674 ^@ NM_133378.4(TTN):c.*99dupA http://identifiers.org/clinvar/335415 ^@ NM_000183.2(HADHB):c.*351C>G http://identifiers.org/clinvar/334712 ^@ NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) http://identifiers.org/clinvar/334723 ^@ NM_000092.4(COL4A4):c.2165-13delT http://identifiers.org/clinvar/334728 ^@ NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) http://identifiers.org/clinvar/332675 ^@ NM_133378.4(TTN):c.*59G>A http://identifiers.org/clinvar/334740 ^@ NM_000092.4(COL4A4):c.-79C>T http://identifiers.org/clinvar/332678 ^@ NM_133378.4(TTN):c.99292C>G (p.Gln33098Glu) http://identifiers.org/clinvar/332683 ^@ NM_133378.4(TTN):c.98316T>C (p.Gly32772=) http://identifiers.org/clinvar/332685 ^@ NM_133378.4(TTN):c.98068C>A (p.Pro32690Thr) http://identifiers.org/clinvar/334743 ^@ NM_000092.4(COL4A4):c.-177G>A http://identifiers.org/clinvar/335416 ^@ NM_000183.2(HADHB):c.*380A>G http://identifiers.org/clinvar/335417 ^@ NM_000183.2(HADHB):c.*486G>A http://identifiers.org/clinvar/334751 ^@ NM_000091.4(COL4A3):c.-16T>C http://identifiers.org/clinvar/334752 ^@ NM_000091.4(COL4A3):c.-13G>C http://identifiers.org/clinvar/335419 ^@ NM_194248.2(OTOF):c.*898C>A http://identifiers.org/clinvar/334756 ^@ NM_000091.4(COL4A3):c.399G>A (p.Gly133=) http://identifiers.org/clinvar/335418 ^@ NM_194248.2(OTOF):c.*898dupC http://identifiers.org/clinvar/332686 ^@ NM_133378.4(TTN):c.97702C>T (p.Arg32568Trp) http://identifiers.org/clinvar/335421 ^@ NM_194248.2(OTOF):c.*770T>A http://identifiers.org/clinvar/332688 ^@ NM_133378.4(TTN):c.97553T>A (p.Met32518Lys) http://identifiers.org/clinvar/332690 ^@ NM_133378.4(TTN):c.96887C>T (p.Pro32296Leu) http://identifiers.org/clinvar/332694 ^@ NM_133378.4(TTN):c.96289C>G (p.Leu32097Val) http://identifiers.org/clinvar/332295 ^@ NM_025000.3(DCAF17):c.*2292G>A http://identifiers.org/clinvar/332698 ^@ NM_133378.4(TTN):c.94583C>A (p.Thr31528Asn) http://identifiers.org/clinvar/332302 ^@ NM_025000.3(DCAF17):c.*2473G>A http://identifiers.org/clinvar/334758 ^@ NM_000091.4(COL4A3):c.688-8G>T http://identifiers.org/clinvar/334760 ^@ NM_000091.4(COL4A3):c.1367_1369delATC (p.Tyr456del) http://identifiers.org/clinvar/332303 ^@ NM_025000.3(DCAF17):c.*2623T>G http://identifiers.org/clinvar/334761 ^@ NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) http://identifiers.org/clinvar/335427 ^@ NM_194248.2(OTOF):c.*341G>A http://identifiers.org/clinvar/332700 ^@ NM_133378.4(TTN):c.93587C>T (p.Ala31196Val) http://identifiers.org/clinvar/335430 ^@ NM_194248.2(OTOF):c.5477C>T (p.Ala1826Val) http://identifiers.org/clinvar/334762 ^@ NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) http://identifiers.org/clinvar/334764 ^@ NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) http://identifiers.org/clinvar/334765 ^@ NM_000091.4(COL4A3):c.1928-4T>C http://identifiers.org/clinvar/335435 ^@ NM_194248.2(OTOF):c.4290C>T (p.Asn1430=) http://identifiers.org/clinvar/334771 ^@ NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) http://identifiers.org/clinvar/335437 ^@ NM_194248.2(OTOF):c.4092C>G (p.Gly1364=) http://identifiers.org/clinvar/335440 ^@ NM_194248.2(OTOF):c.3230A>G (p.Gln1077Arg) http://identifiers.org/clinvar/332705 ^@ NM_133378.4(TTN):c.92199A>G (p.Glu30733=) http://identifiers.org/clinvar/335450 ^@ NM_194248.2(OTOF):c.1640C>T (p.Thr547Met) http://identifiers.org/clinvar/334773 ^@ NM_000091.4(COL4A3):c.3419-8T>G http://identifiers.org/clinvar/334779 ^@ NM_000091.4(COL4A3):c.3956-8_3956-5delGTTT http://identifiers.org/clinvar/334789 ^@ NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) http://identifiers.org/clinvar/332708 ^@ NM_133378.4(TTN):c.91606C>T (p.Arg30536Cys) http://identifiers.org/clinvar/334791 ^@ NM_000091.4(COL4A3):c.*286C>T http://identifiers.org/clinvar/334793 ^@ NM_000091.4(COL4A3):c.*406G>A http://identifiers.org/clinvar/332305 ^@ NM_025000.3(DCAF17):c.*2775G>T http://identifiers.org/clinvar/332306 ^@ NM_025000.3(DCAF17):c.*2795T>C http://identifiers.org/clinvar/332307 ^@ NM_025000.3(DCAF17):c.*2968_*2970dupTTC http://identifiers.org/clinvar/332709 ^@ NM_133378.4(TTN):c.91535G>A (p.Gly30512Glu) http://identifiers.org/clinvar/335453 ^@ NM_194248.2(OTOF):c.1206-10G>A http://identifiers.org/clinvar/332713 ^@ NM_133378.4(TTN):c.90465A>C (p.Arg30155Ser) http://identifiers.org/clinvar/335459 ^@ NM_194248.2(OTOF):c.576A>G (p.Gln192=) http://identifiers.org/clinvar/332715 ^@ NM_133378.4(TTN):c.89939G>A (p.Arg29980His) http://identifiers.org/clinvar/332718 ^@ NM_133378.4(TTN):c.88888C>G (p.Leu29630Val) http://identifiers.org/clinvar/332310 ^@ NM_025000.3(DCAF17):c.*3012_*3015delTTGT http://identifiers.org/clinvar/332311 ^@ NM_025000.3(DCAF17):c.*3112C>G http://identifiers.org/clinvar/334794 ^@ NM_000091.4(COL4A3):c.*589C>T http://identifiers.org/clinvar/334795 ^@ NM_000091.4(COL4A3):c.*595A>T http://identifiers.org/clinvar/334798 ^@ NM_000091.4(COL4A3):c.*811A>C http://identifiers.org/clinvar/335463 ^@ NM_194248.2(OTOF):c.97C>T (p.Arg33Trp) http://identifiers.org/clinvar/332725 ^@ NM_133378.4(TTN):c.86895T>C (p.Asp28965=) http://identifiers.org/clinvar/335469 ^@ NM_194248.2(OTOF):c.-91G>A http://identifiers.org/clinvar/334800 ^@ NM_000091.4(COL4A3):c.*981C>T http://identifiers.org/clinvar/334802 ^@ NM_000091.4(COL4A3):c.*1032G>A http://identifiers.org/clinvar/334806 ^@ NM_000091.4(COL4A3):c.*1069_*1070delAA http://identifiers.org/clinvar/332726 ^@ NM_133378.4(TTN):c.86335G>C (p.Glu28779Gln) http://identifiers.org/clinvar/335470 ^@ NM_194248.2(OTOF):c.-101_-96delAGGAGG http://identifiers.org/clinvar/332312 ^@ NM_025000.3(DCAF17):c.*3453A>G http://identifiers.org/clinvar/335474 ^@ NM_000221.2(KHK):c.-449T>G http://identifiers.org/clinvar/332315 ^@ NM_025000.3(DCAF17):c.*3712A>G http://identifiers.org/clinvar/332316 ^@ NM_025000.3(DCAF17):c.*3829G>A http://identifiers.org/clinvar/332317 ^@ NM_025000.3(DCAF17):c.*3835A>G http://identifiers.org/clinvar/332319 ^@ NM_003705.4(SLC25A12):c.*1553T>C http://identifiers.org/clinvar/335481 ^@ NM_000221.2(KHK):c.-15T>G http://identifiers.org/clinvar/335490 ^@ NM_000221.2(KHK):c.473C>A (p.Thr158Asn) http://identifiers.org/clinvar/332322 ^@ NM_003705.4(SLC25A12):c.*1161T>C http://identifiers.org/clinvar/334815 ^@ NM_000091.4(COL4A3):c.*1918T>C http://identifiers.org/clinvar/334820 ^@ NM_000091.4(COL4A3):c.*2182C>T http://identifiers.org/clinvar/332327 ^@ NM_003705.4(SLC25A12):c.*965A>G http://identifiers.org/clinvar/335491 ^@ NM_000221.2(KHK):c.499C>T (p.Arg167Trp) http://identifiers.org/clinvar/332727 ^@ NM_133378.4(TTN):c.84802A>C (p.Thr28268Pro) http://identifiers.org/clinvar/335492 ^@ NM_000221.2(KHK):c.500G>A (p.Arg167Gln) http://identifiers.org/clinvar/332728 ^@ NM_133378.4(TTN):c.84750C>T (p.Pro28250=) http://identifiers.org/clinvar/332732 ^@ NM_133378.4(TTN):c.82948A>G (p.Thr27650Ala) http://identifiers.org/clinvar/332328 ^@ NM_003705.4(SLC25A12):c.*754C>A http://identifiers.org/clinvar/334823 ^@ NM_000091.4(COL4A3):c.*2272T>C http://identifiers.org/clinvar/332736 ^@ NM_133378.4(TTN):c.81688T>A (p.Ser27230Thr) http://identifiers.org/clinvar/332740 ^@ NM_133378.4(TTN):c.80430A>G (p.Pro26810=) http://identifiers.org/clinvar/334825 ^@ NM_000091.4(COL4A3):c.*2452T>C http://identifiers.org/clinvar/332744 ^@ NM_133378.4(TTN):c.78555A>G (p.Leu26185=) http://identifiers.org/clinvar/334830 ^@ NM_025243.3(SLC19A3):c.*2132T>C http://identifiers.org/clinvar/332331 ^@ NM_003705.4(SLC25A12):c.*165C>T http://identifiers.org/clinvar/335494 ^@ NM_000221.2(KHK):c.557G>A (p.Gly186Glu) http://identifiers.org/clinvar/332334 ^@ NM_003705.4(SLC25A12):c.1934C>T (p.Thr645Met) http://identifiers.org/clinvar/332341 ^@ NM_003705.4(SLC25A12):c.957C>A (p.Ile319=) http://identifiers.org/clinvar/332342 ^@ NM_003705.4(SLC25A12):c.737T>C (p.Val246Ala) http://identifiers.org/clinvar/334831 ^@ NM_025243.3(SLC19A3):c.*2130_*2132delTGTinsCGC http://identifiers.org/clinvar/332343 ^@ NM_003705.4(SLC25A12):c.659A>G (p.Asn220Ser) http://identifiers.org/clinvar/335495 ^@ NM_000221.2(KHK):c.643G>C (p.Val215Leu) http://identifiers.org/clinvar/332352 ^@ NM_000210.3(ITGA6):c.-138G>A http://identifiers.org/clinvar/334832 ^@ NM_025243.3(SLC19A3):c.*2130T>C http://identifiers.org/clinvar/334839 ^@ NM_025243.3(SLC19A3):c.*1963C>T http://identifiers.org/clinvar/334849 ^@ NM_025243.3(SLC19A3):c.*1684A>G http://identifiers.org/clinvar/332747 ^@ NM_133378.4(TTN):c.77679T>C (p.Asn25893=) http://identifiers.org/clinvar/335500 ^@ NM_000221.2(KHK):c.*24_*25delAC http://identifiers.org/clinvar/335501 ^@ NM_000221.2(KHK):c.*27A>G http://identifiers.org/clinvar/332754 ^@ NM_133378.4(TTN):c.75712C>G (p.Arg25238Gly) http://identifiers.org/clinvar/332758 ^@ NM_133378.4(TTN):c.74954G>C (p.Gly24985Ala) http://identifiers.org/clinvar/332354 ^@ NM_000210.3(ITGA6):c.-14C>G http://identifiers.org/clinvar/332355 ^@ NM_000210.3(ITGA6):c.10G>A (p.Ala4Thr) http://identifiers.org/clinvar/332364 ^@ NM_000210.3(ITGA6):c.1427T>G (p.Val476Gly) http://identifiers.org/clinvar/332369 ^@ NM_000210.3(ITGA6):c.2082C>T (p.Asp694=) http://identifiers.org/clinvar/335502 ^@ NM_000221.2(KHK):c.*28T>C http://identifiers.org/clinvar/335507 ^@ NM_000221.2(KHK):c.*198A>C http://identifiers.org/clinvar/332383 ^@ NM_000210.3(ITGA6):c.2858G>A (p.Arg953His) http://identifiers.org/clinvar/332390 ^@ NM_000210.3(ITGA6):c.3222G>A (p.Ter1074=) http://identifiers.org/clinvar/332396 ^@ NM_000210.3(ITGA6):c.*574C>G http://identifiers.org/clinvar/332401 ^@ NM_000210.3(ITGA6):c.*751A>G http://identifiers.org/clinvar/332402 ^@ NM_000210.3(ITGA6):c.*776T>G http://identifiers.org/clinvar/334858 ^@ NM_025243.3(SLC19A3):c.*1059C>G http://identifiers.org/clinvar/332408 ^@ NM_000210.3(ITGA6):c.*1108A>G http://identifiers.org/clinvar/334860 ^@ NM_025243.3(SLC19A3):c.*1000A>G http://identifiers.org/clinvar/332415 ^@ NM_000210.3(ITGA6):c.*1656G>T http://identifiers.org/clinvar/334865 ^@ NM_025243.3(SLC19A3):c.*597_*599delATT http://identifiers.org/clinvar/334866 ^@ NM_025243.3(SLC19A3):c.*575G>A http://identifiers.org/clinvar/332417 ^@ NM_000210.3(ITGA6):c.*1809T>C http://identifiers.org/clinvar/335510 ^@ NM_000221.2(KHK):c.*469G>A http://identifiers.org/clinvar/332765 ^@ NM_133378.4(TTN):c.73186A>G (p.Asn24396Asp) http://identifiers.org/clinvar/335511 ^@ NM_000221.2(KHK):c.*505G>A http://identifiers.org/clinvar/332420 ^@ NM_000210.3(ITGA6):c.*1940dupA http://identifiers.org/clinvar/332422 ^@ NM_000210.3(ITGA6):c.*2088T>G http://identifiers.org/clinvar/332766 ^@ NM_133378.4(TTN):c.72882C>T (p.Ser24294=) http://identifiers.org/clinvar/332427 ^@ NM_000079.3(CHRNA1):c.*461A>T http://identifiers.org/clinvar/332433 ^@ NM_000079.3(CHRNA1):c.*288G>A http://identifiers.org/clinvar/335518 ^@ NM_000221.2(KHK):c.*810A>C http://identifiers.org/clinvar/332434 ^@ NM_000079.3(CHRNA1):c.*275A>G http://identifiers.org/clinvar/335523 ^@ NM_002437.4(MPV17):c.*130G>T http://identifiers.org/clinvar/334867 ^@ NM_025243.3(SLC19A3):c.*506C>T http://identifiers.org/clinvar/332768 ^@ NM_133378.4(TTN):c.72695T>C (p.Met24232Thr) http://identifiers.org/clinvar/334868 ^@ NM_025243.3(SLC19A3):c.*499C>T http://identifiers.org/clinvar/335526 ^@ NM_002437.4(MPV17):c.373C>T (p.Arg125Trp) http://identifiers.org/clinvar/335531 ^@ NM_015636.3(EIF2B4):c.*1C>T http://identifiers.org/clinvar/334869 ^@ NM_025243.3(SLC19A3):c.*348A>C http://identifiers.org/clinvar/332771 ^@ NM_133378.4(TTN):c.71202A>C (p.Glu23734Asp) http://identifiers.org/clinvar/332773 ^@ NM_133378.4(TTN):c.70697G>A (p.Arg23566His) http://identifiers.org/clinvar/332435 ^@ NM_000079.3(CHRNA1):c.1332C>T (p.Ala444=) http://identifiers.org/clinvar/332438 ^@ NM_000079.3(CHRNA1):c.1248G>A (p.Ala416=) http://identifiers.org/clinvar/332777 ^@ NM_133378.4(TTN):c.68279C>T (p.Pro22760Leu) http://identifiers.org/clinvar/335534 ^@ NM_015636.3(EIF2B4):c.1370-4G>A http://identifiers.org/clinvar/332444 ^@ NM_000079.3(CHRNA1):c.779-12delT http://identifiers.org/clinvar/335537 ^@ NM_015636.3(EIF2B4):c.958C>T (p.Arg320Cys) http://identifiers.org/clinvar/332447 ^@ NM_000079.3(CHRNA1):c.605G>A (p.Arg202Gln) http://identifiers.org/clinvar/335549 ^@ NM_144631.5(ZNF513):c.*173C>T http://identifiers.org/clinvar/332778 ^@ NM_133378.4(TTN):c.68265T>C (p.Val22755=) http://identifiers.org/clinvar/332779 ^@ NM_133378.4(TTN):c.67674T>A (p.Gly22558=) http://identifiers.org/clinvar/332453 ^@ NM_001822.5(CHN1):c.*734_*737delACTT http://identifiers.org/clinvar/332780 ^@ NM_133378.4(TTN):c.67607A>T (p.Asp22536Val) http://identifiers.org/clinvar/332782 ^@ NM_133378.4(TTN):c.67454G>C (p.Trp22485Ser) http://identifiers.org/clinvar/335553 ^@ NM_144631.5(ZNF513):c.1260C>T (p.Leu420=) http://identifiers.org/clinvar/332456 ^@ NM_001822.5(CHN1):c.*668T>C http://identifiers.org/clinvar/335559 ^@ NM_144631.5(ZNF513):c.556G>A (p.Ala186Thr) http://identifiers.org/clinvar/332469 ^@ NM_001822.5(CHN1):c.432G>C (p.Glu144Asp) http://identifiers.org/clinvar/332472 ^@ NM_001822.5(CHN1):c.-74C>T http://identifiers.org/clinvar/332473 ^@ NM_001822.5(CHN1):c.-104C>T http://identifiers.org/clinvar/332785 ^@ NM_133378.4(TTN):c.65859C>G (p.Gly21953=) http://identifiers.org/clinvar/335574 ^@ NM_001029883.2(C2orf71):c.*2763A>G http://identifiers.org/clinvar/332786 ^@ NM_133378.4(TTN):c.64793G>A (p.Ser21598Asn) http://identifiers.org/clinvar/335581 ^@ NM_001029883.2(C2orf71):c.*2562G>C http://identifiers.org/clinvar/332793 ^@ NM_133378.4(TTN):c.62893C>T (p.Pro20965Ser) http://identifiers.org/clinvar/332805 ^@ NM_133378.4(TTN):c.57712C>T (p.Arg19238Trp) http://identifiers.org/clinvar/335590 ^@ NM_001029883.2(C2orf71):c.*2160G>A http://identifiers.org/clinvar/335591 ^@ NM_001029883.2(C2orf71):c.*2104T>C http://identifiers.org/clinvar/332829 ^@ NM_133378.4(TTN):c.48891T>C (p.Tyr16297=) http://identifiers.org/clinvar/332831 ^@ NM_133378.4(TTN):c.48560G>A (p.Arg16187His) http://identifiers.org/clinvar/332834 ^@ NM_133378.4(TTN):c.46333G>T (p.Ala15445Ser) http://identifiers.org/clinvar/335593 ^@ NM_001029883.2(C2orf71):c.*1912T>A http://identifiers.org/clinvar/335594 ^@ NM_001029883.2(C2orf71):c.*1865G>A http://identifiers.org/clinvar/335601 ^@ NM_001029883.2(C2orf71):c.*1542A>G http://identifiers.org/clinvar/332474 ^@ NM_001822.5(CHN1):c.-160C>G http://identifiers.org/clinvar/332477 ^@ NM_002148.3(HOXD10):c.-10C>A http://identifiers.org/clinvar/334877 ^@ NM_025243.3(SLC19A3):c.1442T>C (p.Val481Ala) http://identifiers.org/clinvar/335603 ^@ NM_001029883.2(C2orf71):c.*1517G>A http://identifiers.org/clinvar/335604 ^@ NM_001029883.2(C2orf71):c.*1425C>T http://identifiers.org/clinvar/334881 ^@ NM_025243.3(SLC19A3):c.481T>C (p.Leu161=) http://identifiers.org/clinvar/334889 ^@ NM_004509.3(SP110):c.2066C>G (p.Pro689Arg) http://identifiers.org/clinvar/334890 ^@ NM_004509.3(SP110):c.2050G>A (p.Gly684Ser) http://identifiers.org/clinvar/334904 ^@ NM_004509.3(SP110):c.1447G>A (p.Gly483Arg) http://identifiers.org/clinvar/334906 ^@ NM_004509.3(SP110):c.1173G>A (p.Val391=) http://identifiers.org/clinvar/332478 ^@ NM_002148.3(HOXD10):c.116C>T (p.Pro39Leu) http://identifiers.org/clinvar/332479 ^@ NM_002148.3(HOXD10):c.266G>A (p.Arg89Gln) http://identifiers.org/clinvar/350545 ^@ NM_001182.4(ALDH7A1):c.*1748_*1749delTGinsAT http://identifiers.org/clinvar/347384 ^@ NM_003619.3(PRSS12):c.*278T>A http://identifiers.org/clinvar/347392 ^@ NM_003619.3(PRSS12):c.2460C>T (p.Ser820=) http://identifiers.org/clinvar/347360 ^@ NM_001148.4(ANK2):c.*956C>G http://identifiers.org/clinvar/347368 ^@ NM_001148.4(ANK2):c.*2108C>T http://identifiers.org/clinvar/347371 ^@ NM_003619.3(PRSS12):c.*1660T>C http://identifiers.org/clinvar/352775 ^@ NM_001017995.2(SH3PXD2B):c.*1253A>G http://identifiers.org/clinvar/350551 ^@ NM_001182.4(ALDH7A1):c.*1672A>G http://identifiers.org/clinvar/350554 ^@ NM_001182.4(ALDH7A1):c.*1484T>C http://identifiers.org/clinvar/350561 ^@ NM_001182.4(ALDH7A1):c.*1059G>A http://identifiers.org/clinvar/347381 ^@ NM_003619.3(PRSS12):c.*583delT http://identifiers.org/clinvar/352787 ^@ NM_001017995.2(SH3PXD2B):c.*707C>T http://identifiers.org/clinvar/347382 ^@ NM_003619.3(PRSS12):c.*531C>A http://identifiers.org/clinvar/350562 ^@ NM_001182.4(ALDH7A1):c.*1004dupC http://identifiers.org/clinvar/347399 ^@ NM_003619.3(PRSS12):c.1277G>A (p.Arg426Gln) http://identifiers.org/clinvar/350564 ^@ NM_001182.4(ALDH7A1):c.*1002delT http://identifiers.org/clinvar/352791 ^@ NM_001017995.2(SH3PXD2B):c.*636G>A http://identifiers.org/clinvar/347404 ^@ NM_003619.3(PRSS12):c.315C>T (p.Phe105=) http://identifiers.org/clinvar/352793 ^@ NM_001017995.2(SH3PXD2B):c.*589C>T http://identifiers.org/clinvar/347383 ^@ NM_003619.3(PRSS12):c.*526T>A http://identifiers.org/clinvar/347386 ^@ NM_003619.3(PRSS12):c.*260C>T http://identifiers.org/clinvar/347387 ^@ NM_003619.3(PRSS12):c.*233G>C http://identifiers.org/clinvar/350565 ^@ NM_001182.4(ALDH7A1):c.*1000dupA http://identifiers.org/clinvar/352794 ^@ NM_001017995.2(SH3PXD2B):c.*571C>T http://identifiers.org/clinvar/347394 ^@ NM_003619.3(PRSS12):c.2034C>G (p.Phe678Leu) http://identifiers.org/clinvar/352801 ^@ NM_001017995.2(SH3PXD2B):c.2477C>T (p.Pro826Leu) http://identifiers.org/clinvar/347395 ^@ NM_003619.3(PRSS12):c.1788A>T (p.Gly596=) http://identifiers.org/clinvar/347397 ^@ NM_003619.3(PRSS12):c.1640C>A (p.Ala547Asp) http://identifiers.org/clinvar/347400 ^@ NM_003619.3(PRSS12):c.820+10dupA http://identifiers.org/clinvar/347408 ^@ NM_016599.4(MYOZ2):c.*90A>T http://identifiers.org/clinvar/352802 ^@ NM_001017995.2(SH3PXD2B):c.2395C>T (p.Leu799Phe) http://identifiers.org/clinvar/347409 ^@ NM_016599.4(MYOZ2):c.*167C>T http://identifiers.org/clinvar/347405 ^@ NM_016599.4(MYOZ2):c.-15+11dupT http://identifiers.org/clinvar/347412 ^@ NM_016599.4(MYOZ2):c.*381C>A http://identifiers.org/clinvar/347417 ^@ NM_016599.4(MYOZ2):c.*1081T>C http://identifiers.org/clinvar/347410 ^@ NM_016599.4(MYOZ2):c.*192_*193insATA http://identifiers.org/clinvar/347421 ^@ NM_016599.4(MYOZ2):c.*1240C>T http://identifiers.org/clinvar/352803 ^@ NM_001017995.2(SH3PXD2B):c.2227G>A (p.Val743Met) http://identifiers.org/clinvar/347422 ^@ NM_016599.4(MYOZ2):c.*1248G>A http://identifiers.org/clinvar/347411 ^@ NM_016599.4(MYOZ2):c.*328G>A http://identifiers.org/clinvar/347420 ^@ NM_016599.4(MYOZ2):c.*1189T>G http://identifiers.org/clinvar/347424 ^@ NM_016599.4(MYOZ2):c.*1262delA http://identifiers.org/clinvar/347425 ^@ NM_016599.4(MYOZ2):c.*1333A>T http://identifiers.org/clinvar/350570 ^@ NM_001182.4(ALDH7A1):c.*818G>A http://identifiers.org/clinvar/347427 ^@ NM_018699.3(PRDM5):c.*154A>T http://identifiers.org/clinvar/347431 ^@ NM_018699.3(PRDM5):c.1722G>A (p.Gln574=) http://identifiers.org/clinvar/347434 ^@ NM_018699.3(PRDM5):c.1385G>C (p.Arg462Thr) http://identifiers.org/clinvar/350573 ^@ NM_001182.4(ALDH7A1):c.*717G>A http://identifiers.org/clinvar/350587 ^@ NM_001182.4(ALDH7A1):c.119C>T (p.Ala40Val) http://identifiers.org/clinvar/350590 ^@ NM_001182.4(ALDH7A1):c.-117G>T http://identifiers.org/clinvar/347426 ^@ NM_018699.3(PRDM5):c.*176T>C http://identifiers.org/clinvar/347428 ^@ NM_018699.3(PRDM5):c.*141T>C http://identifiers.org/clinvar/347432 ^@ NM_018699.3(PRDM5):c.1633T>C (p.Tyr545His) http://identifiers.org/clinvar/352805 ^@ NM_001017995.2(SH3PXD2B):c.1983C>T (p.Val661=) http://identifiers.org/clinvar/352811 ^@ NM_001017995.2(SH3PXD2B):c.1472G>A (p.Ser491Asn) http://identifiers.org/clinvar/347433 ^@ NM_018699.3(PRDM5):c.1623+8T>C http://identifiers.org/clinvar/347449 ^@ NM_018699.3(PRDM5):c.544C>T (p.Leu182Phe) http://identifiers.org/clinvar/347453 ^@ NM_018699.3(PRDM5):c.236C>G (p.Ser79Cys) http://identifiers.org/clinvar/347438 ^@ NM_018699.3(PRDM5):c.1189-14T>C http://identifiers.org/clinvar/347454 ^@ NM_018699.3(PRDM5):c.128G>C (p.Arg43Thr) http://identifiers.org/clinvar/350633 ^@ NM_198253.2(TERT):c.2654+10G>A http://identifiers.org/clinvar/350599 ^@ NM_005573.3(LMNB1):c.-621T>C http://identifiers.org/clinvar/352812 ^@ NM_001017995.2(SH3PXD2B):c.1326C>A (p.His442Gln) http://identifiers.org/clinvar/347443 ^@ NM_018699.3(PRDM5):c.743+14G>A http://identifiers.org/clinvar/352813 ^@ NM_001017995.2(SH3PXD2B):c.1284G>C (p.Thr428=) http://identifiers.org/clinvar/347444 ^@ NM_018699.3(PRDM5):c.681A>G (p.Leu227=) http://identifiers.org/clinvar/352814 ^@ NM_001017995.2(SH3PXD2B):c.1188+13G>A http://identifiers.org/clinvar/347456 ^@ NM_018699.3(PRDM5):c.36G>T (p.Leu12=) http://identifiers.org/clinvar/347462 ^@ NM_018699.3(PRDM5):c.-245C>G http://identifiers.org/clinvar/350601 ^@ NM_005573.3(LMNB1):c.-583G>C http://identifiers.org/clinvar/352818 ^@ NM_001017995.2(SH3PXD2B):c.996C>T (p.Asp332=) http://identifiers.org/clinvar/347445 ^@ NM_018699.3(PRDM5):c.660G>A (p.Gln220=) http://identifiers.org/clinvar/350602 ^@ NM_005573.3(LMNB1):c.-577C>T http://identifiers.org/clinvar/352819 ^@ NM_001017995.2(SH3PXD2B):c.885G>A (p.Pro295=) http://identifiers.org/clinvar/350611 ^@ NM_005573.3(LMNB1):c.141C>T (p.Ile47=) http://identifiers.org/clinvar/350612 ^@ NM_005573.3(LMNB1):c.279C>T (p.Leu93=) http://identifiers.org/clinvar/350618 ^@ NM_005573.3(LMNB1):c.1387-3T>C http://identifiers.org/clinvar/352824 ^@ NM_001017995.2(SH3PXD2B):c.450C>T (p.Asp150=) http://identifiers.org/clinvar/347450 ^@ NM_018699.3(PRDM5):c.392A>C (p.Glu131Ala) http://identifiers.org/clinvar/347465 ^@ NM_176824.2(BBS7):c.*1286G>A http://identifiers.org/clinvar/347460 ^@ NM_018699.3(PRDM5):c.-207G>A http://identifiers.org/clinvar/347467 ^@ NM_176824.2(BBS7):c.*1202G>A http://identifiers.org/clinvar/350621 ^@ NM_005573.3(LMNB1):c.*15T>C http://identifiers.org/clinvar/350625 ^@ NM_005573.3(LMNB1):c.*518T>C http://identifiers.org/clinvar/350626 ^@ NM_005573.3(LMNB1):c.*629G>A http://identifiers.org/clinvar/350628 ^@ NM_005573.3(LMNB1):c.*691A>G http://identifiers.org/clinvar/347472 ^@ NM_176824.2(BBS7):c.*709G>C http://identifiers.org/clinvar/347474 ^@ NM_176824.2(BBS7):c.*605G>A http://identifiers.org/clinvar/347461 ^@ NM_018699.3(PRDM5):c.-234C>T http://identifiers.org/clinvar/352825 ^@ NM_001017995.2(SH3PXD2B):c.430G>T (p.Gly144Cys) http://identifiers.org/clinvar/350723 ^@ NM_198253.2(TERT):c.2582+11C>T http://identifiers.org/clinvar/347464 ^@ NM_176824.2(BBS7):c.*1324G>A http://identifiers.org/clinvar/347468 ^@ NM_176824.2(BBS7):c.*1139T>C http://identifiers.org/clinvar/347471 ^@ NM_176824.2(BBS7):c.*729delG http://identifiers.org/clinvar/350630 ^@ NM_032446.2(MEGF10):c.-248T>C http://identifiers.org/clinvar/350635 ^@ NM_032446.2(MEGF10):c.117-5_117-4insC http://identifiers.org/clinvar/350646 ^@ NM_032446.2(MEGF10):c.1080C>T (p.Tyr360=) http://identifiers.org/clinvar/350656 ^@ NM_032446.2(MEGF10):c.1841-5T>C http://identifiers.org/clinvar/350660 ^@ NM_032446.2(MEGF10):c.2284C>A (p.Gln762Lys) http://identifiers.org/clinvar/347485 ^@ NM_176824.2(BBS7):c.1234G>T (p.Asp412Tyr) http://identifiers.org/clinvar/347475 ^@ NM_176824.2(BBS7):c.*513C>T http://identifiers.org/clinvar/347487 ^@ NM_176824.2(BBS7):c.587A>G (p.His196Arg) http://identifiers.org/clinvar/347476 ^@ NM_176824.2(BBS7):c.*419T>A http://identifiers.org/clinvar/347477 ^@ NM_176824.2(BBS7):c.*304A>C http://identifiers.org/clinvar/347489 ^@ NM_176824.2(BBS7):c.11T>C (p.Ile4Thr) http://identifiers.org/clinvar/352826 ^@ NM_001017995.2(SH3PXD2B):c.427+14C>G http://identifiers.org/clinvar/347479 ^@ NM_176824.2(BBS7):c.*250T>G http://identifiers.org/clinvar/347480 ^@ NM_176824.2(BBS7):c.1942T>G (p.Cys648Gly) http://identifiers.org/clinvar/350662 ^@ NM_032446.2(MEGF10):c.2348G>A (p.Arg783Gln) http://identifiers.org/clinvar/350663 ^@ NM_032446.2(MEGF10):c.2442T>C (p.Thr814=) http://identifiers.org/clinvar/350664 ^@ NM_032446.2(MEGF10):c.2463C>T (p.Pro821=) http://identifiers.org/clinvar/350673 ^@ NM_032446.2(MEGF10):c.*22C>T http://identifiers.org/clinvar/350674 ^@ NM_032446.2(MEGF10):c.*52G>T http://identifiers.org/clinvar/347481 ^@ NM_176824.2(BBS7):c.1603C>A (p.Pro535Thr) http://identifiers.org/clinvar/347501 ^@ NM_152618.2(BBS12):c.1261C>A (p.Arg421Ser) http://identifiers.org/clinvar/347492 ^@ NM_152618.2(BBS12):c.-157C>T http://identifiers.org/clinvar/347493 ^@ NM_152618.2(BBS12):c.-152C>G http://identifiers.org/clinvar/347497 ^@ NM_152618.2(BBS12):c.1092delA (p.Glu365Argfs) http://identifiers.org/clinvar/350680 ^@ NM_032446.2(MEGF10):c.*601C>T http://identifiers.org/clinvar/347498 ^@ NM_152618.2(BBS12):c.1103G>A (p.Arg368His) http://identifiers.org/clinvar/352840 ^@ NM_002449.4(MSX2):c.*102C>T http://identifiers.org/clinvar/352843 ^@ NM_002449.4(MSX2):c.*257T>C http://identifiers.org/clinvar/347499 ^@ NM_152618.2(BBS12):c.1156C>T (p.Arg386Trp) http://identifiers.org/clinvar/347505 ^@ NM_152618.2(BBS12):c.2023C>T (p.Arg675Ter) http://identifiers.org/clinvar/347522 ^@ NM_152778.2(MFSD8):c.*2386delC http://identifiers.org/clinvar/347506 ^@ NM_152618.2(BBS12):c.2100T>C (p.Asn700=) http://identifiers.org/clinvar/347524 ^@ NM_152778.2(MFSD8):c.*2214A>G http://identifiers.org/clinvar/352846 ^@ NM_002449.4(MSX2):c.*349T>C http://identifiers.org/clinvar/352847 ^@ NM_002449.4(MSX2):c.*363A>G http://identifiers.org/clinvar/347507 ^@ NM_152618.2(BBS12):c.*185T>C http://identifiers.org/clinvar/347515 ^@ NM_152618.2(BBS12):c.*854C>A http://identifiers.org/clinvar/350686 ^@ NM_032446.2(MEGF10):c.*1170G>A http://identifiers.org/clinvar/352848 ^@ NM_002449.4(MSX2):c.*416A>C http://identifiers.org/clinvar/352852 ^@ NM_002449.4(MSX2):c.*601C>T http://identifiers.org/clinvar/350691 ^@ NM_032446.2(MEGF10):c.*1469G>A http://identifiers.org/clinvar/350694 ^@ NM_032446.2(MEGF10):c.*1699G>A http://identifiers.org/clinvar/352855 ^@ NM_002449.4(MSX2):c.*723A>C http://identifiers.org/clinvar/350695 ^@ NM_032446.2(MEGF10):c.*1746T>G http://identifiers.org/clinvar/347530 ^@ NM_152778.2(MFSD8):c.*1058A>G http://identifiers.org/clinvar/352860 ^@ NM_002449.4(MSX2):c.*1086dupG http://identifiers.org/clinvar/347517 ^@ NM_152778.2(MFSD8):c.*2689T>C http://identifiers.org/clinvar/347519 ^@ NM_152778.2(MFSD8):c.*2613T>C http://identifiers.org/clinvar/347525 ^@ NM_152778.2(MFSD8):c.*1794G>T http://identifiers.org/clinvar/347544 ^@ NM_152778.2(MFSD8):c.421T>C (p.Leu141=) http://identifiers.org/clinvar/350699 ^@ NM_032446.2(MEGF10):c.*2114T>C http://identifiers.org/clinvar/347547 ^@ NM_031296.2(RAB33B):c.-368C>T http://identifiers.org/clinvar/347550 ^@ NM_031296.2(RAB33B):c.-342T>C http://identifiers.org/clinvar/350701 ^@ NM_032446.2(MEGF10):c.*2174T>C http://identifiers.org/clinvar/350708 ^@ NM_032446.2(MEGF10):c.*2972T>C http://identifiers.org/clinvar/352867 ^@ NM_022455.4(NSD1):c.-134C>T http://identifiers.org/clinvar/350713 ^@ NM_032446.2(MEGF10):c.*3524_*3525delCA http://identifiers.org/clinvar/350720 ^@ NM_032446.2(MEGF10):c.*3669C>A http://identifiers.org/clinvar/352868 ^@ NM_022455.4(NSD1):c.-65A>T http://identifiers.org/clinvar/350729 ^@ NM_001999.3(FBN2):c.*1415G>A http://identifiers.org/clinvar/347528 ^@ NM_152778.2(MFSD8):c.*1471T>C http://identifiers.org/clinvar/352869 ^@ NM_022455.4(NSD1):c.-33G>T http://identifiers.org/clinvar/347551 ^@ NM_031296.2(RAB33B):c.-255C>T http://identifiers.org/clinvar/347557 ^@ NM_031296.2(RAB33B):c.-160G>A http://identifiers.org/clinvar/352872 ^@ NM_022455.4(NSD1):c.1035G>A (p.Pro345=) http://identifiers.org/clinvar/347562 ^@ NM_031296.2(RAB33B):c.135C>G (p.Gly45=) http://identifiers.org/clinvar/347534 ^@ NM_152778.2(MFSD8):c.*492A>T http://identifiers.org/clinvar/352878 ^@ NM_022455.4(NSD1):c.2601C>A (p.Leu867=) http://identifiers.org/clinvar/352880 ^@ NM_022455.4(NSD1):c.3133C>T (p.Arg1045Cys) http://identifiers.org/clinvar/347568 ^@ NM_031296.2(RAB33B):c.677C>T (p.Thr226Met) http://identifiers.org/clinvar/347569 ^@ NM_031296.2(RAB33B):c.*118T>G http://identifiers.org/clinvar/347574 ^@ NM_031296.2(RAB33B):c.*590T>C http://identifiers.org/clinvar/347585 ^@ NM_031296.2(RAB33B):c.*1751G>T http://identifiers.org/clinvar/352884 ^@ NM_022455.4(NSD1):c.3649C>T (p.Pro1217Ser) http://identifiers.org/clinvar/347536 ^@ NM_152778.2(MFSD8):c.*463A>T http://identifiers.org/clinvar/352886 ^@ NM_022455.4(NSD1):c.3931C>T (p.Arg1311Cys) http://identifiers.org/clinvar/347538 ^@ NM_152778.2(MFSD8):c.*258A>C http://identifiers.org/clinvar/347539 ^@ NM_152778.2(MFSD8):c.*208C>T http://identifiers.org/clinvar/352888 ^@ NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) http://identifiers.org/clinvar/347542 ^@ NM_152778.2(MFSD8):c.1107G>C (p.Leu369Phe) http://identifiers.org/clinvar/347590 ^@ NM_031296.2(RAB33B):c.*2132T>G http://identifiers.org/clinvar/347543 ^@ NM_152778.2(MFSD8):c.704A>T (p.His235Leu) http://identifiers.org/clinvar/352890 ^@ NM_022455.4(NSD1):c.6990C>T (p.Ser2330=) http://identifiers.org/clinvar/347608 ^@ NM_172250.2(MMAA):c.1177G>A (p.Glu393Lys) http://identifiers.org/clinvar/347609 ^@ NM_172250.2(MMAA):c.1193T>C (p.Ile398Thr) http://identifiers.org/clinvar/347610 ^@ NM_172250.2(MMAA):c.*67G>A http://identifiers.org/clinvar/350733 ^@ NM_001999.3(FBN2):c.*1191C>T http://identifiers.org/clinvar/350736 ^@ NM_001999.3(FBN2):c.*1111C>T http://identifiers.org/clinvar/347611 ^@ NM_172250.2(MMAA):c.*177A>G http://identifiers.org/clinvar/347613 ^@ NM_172250.2(MMAA):c.*192G>A http://identifiers.org/clinvar/350740 ^@ NM_001999.3(FBN2):c.*745C>G http://identifiers.org/clinvar/350747 ^@ NM_001999.3(FBN2):c.*371T>G http://identifiers.org/clinvar/350755 ^@ NM_001999.3(FBN2):c.*100A>C http://identifiers.org/clinvar/347545 ^@ NM_152778.2(MFSD8):c.37C>G (p.Leu13Val) http://identifiers.org/clinvar/347548 ^@ NM_031296.2(RAB33B):c.-363G>A http://identifiers.org/clinvar/347614 ^@ NM_172250.2(MMAA):c.*229T>C http://identifiers.org/clinvar/352891 ^@ NM_022455.4(NSD1):c.7025C>T (p.Ser2342Leu) http://identifiers.org/clinvar/347555 ^@ NM_031296.2(RAB33B):c.-164G>A http://identifiers.org/clinvar/352898 ^@ NM_022455.4(NSD1):c.*565delA http://identifiers.org/clinvar/350757 ^@ NM_001999.3(FBN2):c.8574G>A (p.Thr2858=) http://identifiers.org/clinvar/350759 ^@ NM_001999.3(FBN2):c.8376C>G (p.Ile2792Met) http://identifiers.org/clinvar/350761 ^@ NM_001999.3(FBN2):c.8309A>G (p.Tyr2770Cys) http://identifiers.org/clinvar/350763 ^@ NM_001999.3(FBN2):c.7263G>A (p.Gln2421=) http://identifiers.org/clinvar/347617 ^@ NM_172250.2(MMAA):c.*434C>T http://identifiers.org/clinvar/347620 ^@ NM_172250.2(MMAA):c.*589C>G http://identifiers.org/clinvar/352903 ^@ NM_022455.4(NSD1):c.*1053C>A http://identifiers.org/clinvar/352905 ^@ NM_022455.4(NSD1):c.*1177G>A http://identifiers.org/clinvar/347556 ^@ NM_031296.2(RAB33B):c.-163C>T http://identifiers.org/clinvar/352911 ^@ NM_022455.4(NSD1):c.*1717G>A http://identifiers.org/clinvar/347561 ^@ NM_031296.2(RAB33B):c.128A>G (p.Asn43Ser) http://identifiers.org/clinvar/352914 ^@ NM_022455.4(NSD1):c.*2185A>G http://identifiers.org/clinvar/350766 ^@ NM_001999.3(FBN2):c.6591A>G (p.Glu2197=) http://identifiers.org/clinvar/347634 ^@ NM_172250.2(MMAA):c.*1924T>C http://identifiers.org/clinvar/347567 ^@ NM_031296.2(RAB33B):c.553A>G (p.Asn185Asp) http://identifiers.org/clinvar/347639 ^@ NM_172250.2(MMAA):c.*2142T>C http://identifiers.org/clinvar/347645 ^@ NM_172250.2(MMAA):c.*2471G>A http://identifiers.org/clinvar/350768 ^@ NM_001999.3(FBN2):c.6167-4G>A http://identifiers.org/clinvar/350769 ^@ NM_001999.3(FBN2):c.5487C>T (p.Gly1829=) http://identifiers.org/clinvar/347649 ^@ NM_172250.2(MMAA):c.*2622_*2625delACTC http://identifiers.org/clinvar/352920 ^@ NM_022455.4(NSD1):c.*3279G>T http://identifiers.org/clinvar/347650 ^@ NM_172250.2(MMAA):c.*2627A>G http://identifiers.org/clinvar/347570 ^@ NM_031296.2(RAB33B):c.*219A>G http://identifiers.org/clinvar/347576 ^@ NM_031296.2(RAB33B):c.*632A>G http://identifiers.org/clinvar/352925 ^@ NM_022455.4(NSD1):c.*3542T>C http://identifiers.org/clinvar/347651 ^@ NM_172250.2(MMAA):c.*2658G>A http://identifiers.org/clinvar/347653 ^@ NM_172250.2(MMAA):c.*2807C>T http://identifiers.org/clinvar/347654 ^@ NM_172250.2(MMAA):c.*2808G>A http://identifiers.org/clinvar/347588 ^@ NM_031296.2(RAB33B):c.*1994T>A http://identifiers.org/clinvar/347656 ^@ NM_172250.2(MMAA):c.*2903C>T http://identifiers.org/clinvar/352930 ^@ NM_022455.4(NSD1):c.*4027T>C http://identifiers.org/clinvar/347589 ^@ NM_031296.2(RAB33B):c.*2026G>A http://identifiers.org/clinvar/347658 ^@ NM_172250.2(MMAA):c.*3125C>T http://identifiers.org/clinvar/352931 ^@ NM_022455.4(NSD1):c.*4033G>A http://identifiers.org/clinvar/352934 ^@ NM_022455.4(NSD1):c.*4331C>G http://identifiers.org/clinvar/352949 ^@ NM_022455.4(NSD1):c.*4612delG http://identifiers.org/clinvar/347597 ^@ NM_172250.2(MMAA):c.124C>G (p.Gln42Glu) http://identifiers.org/clinvar/347604 ^@ NM_172250.2(MMAA):c.912G>A (p.Ala304=) http://identifiers.org/clinvar/350776 ^@ NM_001999.3(FBN2):c.3724+11A>G http://identifiers.org/clinvar/352950 ^@ NM_003052.4(SLC34A1):c.-68G>A http://identifiers.org/clinvar/350790 ^@ NM_001999.3(FBN2):c.764C>T (p.Pro255Leu) http://identifiers.org/clinvar/352955 ^@ NM_003052.4(SLC34A1):c.123C>T (p.Ile41=) http://identifiers.org/clinvar/352956 ^@ NM_003052.4(SLC34A1):c.223C>T (p.Pro75Ser) http://identifiers.org/clinvar/352959 ^@ NM_003052.4(SLC34A1):c.389-5C>T http://identifiers.org/clinvar/347659 ^@ NM_172250.2(MMAA):c.*3222T>C http://identifiers.org/clinvar/347661 ^@ NM_172250.2(MMAA):c.*3257delC http://identifiers.org/clinvar/350794 ^@ NM_001999.3(FBN2):c.-122G>T http://identifiers.org/clinvar/352962 ^@ NM_003052.4(SLC34A1):c.510C>T (p.Ile170=) http://identifiers.org/clinvar/350795 ^@ NM_001999.3(FBN2):c.-219C>G http://identifiers.org/clinvar/347662 ^@ NM_172250.2(MMAA):c.*3274delA http://identifiers.org/clinvar/347607 ^@ NM_172250.2(MMAA):c.1121G>A (p.Ser374Asn) http://identifiers.org/clinvar/347663 ^@ NM_172250.2(MMAA):c.*3285G>A http://identifiers.org/clinvar/352968 ^@ NM_003052.4(SLC34A1):c.1172C>T (p.Thr391Met) http://identifiers.org/clinvar/347668 ^@ NM_172250.2(MMAA):c.*4103G>A http://identifiers.org/clinvar/352970 ^@ NM_003052.4(SLC34A1):c.1348G>A (p.Gly450Ser) http://identifiers.org/clinvar/352971 ^@ NM_003052.4(SLC34A1):c.1416+5G>A http://identifiers.org/clinvar/352973 ^@ NM_003052.4(SLC34A1):c.1483C>T (p.Arg495Cys) http://identifiers.org/clinvar/350800 ^@ NM_001999.3(FBN2):c.-344G>C http://identifiers.org/clinvar/350810 ^@ NM_003060.3(SLC22A5):c.-30G>C http://identifiers.org/clinvar/350817 ^@ NM_003060.3(SLC22A5):c.1377A>G (p.Arg459=) http://identifiers.org/clinvar/347670 ^@ NM_172250.2(MMAA):c.*4228T>C http://identifiers.org/clinvar/350818 ^@ NM_003060.3(SLC22A5):c.1587-11T>G http://identifiers.org/clinvar/352976 ^@ NM_003052.4(SLC34A1):c.1719A>G (p.Leu573=) http://identifiers.org/clinvar/350833 ^@ NM_003060.3(SLC22A5):c.*1062G>A http://identifiers.org/clinvar/352977 ^@ NM_003052.4(SLC34A1):c.*60G>A http://identifiers.org/clinvar/350845 ^@ NM_014402.4(UQCRQ):c.*332G>A http://identifiers.org/clinvar/350859 ^@ NM_014402.4(UQCRQ):c.*1058A>G http://identifiers.org/clinvar/347616 ^@ NM_172250.2(MMAA):c.*342A>G http://identifiers.org/clinvar/352984 ^@ NM_003052.4(SLC34A1):c.*392A>G http://identifiers.org/clinvar/352995 ^@ NM_000505.3(F12):c.1018+12G>C http://identifiers.org/clinvar/353000 ^@ NM_000505.3(F12):c.630C>T (p.Asp210=) http://identifiers.org/clinvar/347618 ^@ NM_172250.2(MMAA):c.*540A>T http://identifiers.org/clinvar/347621 ^@ NM_172250.2(MMAA):c.*600G>A http://identifiers.org/clinvar/350860 ^@ NM_014402.4(UQCRQ):c.*1078T>A http://identifiers.org/clinvar/350868 ^@ NM_000358.2(TGFBI):c.273C>T (p.Val91=) http://identifiers.org/clinvar/347625 ^@ NM_172250.2(MMAA):c.*1227A>T http://identifiers.org/clinvar/347626 ^@ NM_172250.2(MMAA):c.*1284G>A http://identifiers.org/clinvar/347627 ^@ NM_172250.2(MMAA):c.*1584A>G http://identifiers.org/clinvar/347672 ^@ NM_172250.2(MMAA):c.*4533C>T http://identifiers.org/clinvar/347678 ^@ NM_000901.4(NR3C2):c.*2345T>C http://identifiers.org/clinvar/350870 ^@ NM_000358.2(TGFBI):c.321C>T (p.Tyr107=) http://identifiers.org/clinvar/347628 ^@ NM_172250.2(MMAA):c.*1610C>T http://identifiers.org/clinvar/350871 ^@ NM_000358.2(TGFBI):c.348C>A (p.Thr116=) http://identifiers.org/clinvar/350877 ^@ NM_000358.2(TGFBI):c.816C>T (p.Asn272=) http://identifiers.org/clinvar/353002 ^@ NM_000505.3(F12):c.398-12C>T http://identifiers.org/clinvar/350880 ^@ NM_000358.2(TGFBI):c.1027A>G (p.Met343Val) http://identifiers.org/clinvar/353006 ^@ NM_000505.3(F12):c.-25G>A http://identifiers.org/clinvar/347633 ^@ NM_172250.2(MMAA):c.*1918G>A http://identifiers.org/clinvar/353012 ^@ NM_006261.4(PROP1):c.623dupG (p.Cys208Trpfs) http://identifiers.org/clinvar/347679 ^@ NM_000901.4(NR3C2):c.*2088G>A http://identifiers.org/clinvar/347689 ^@ NM_000901.4(NR3C2):c.*1508A>G http://identifiers.org/clinvar/350882 ^@ NM_000358.2(TGFBI):c.1083C>T (p.Asn361=) http://identifiers.org/clinvar/353017 ^@ NM_006261.4(PROP1):c.27T>C (p.Ala9=) http://identifiers.org/clinvar/350884 ^@ NM_000358.2(TGFBI):c.1265-11C>T http://identifiers.org/clinvar/347690 ^@ NM_000901.4(NR3C2):c.*1493delC http://identifiers.org/clinvar/350885 ^@ NM_000358.2(TGFBI):c.1284T>A (p.Asp428Glu) http://identifiers.org/clinvar/353018 ^@ NM_006261.4(PROP1):c.-161_-158delTCAG http://identifiers.org/clinvar/353024 ^@ NM_017838.3(NHP2):c.231-17_231-16delGT http://identifiers.org/clinvar/353025 ^@ NM_017838.3(NHP2):c.190G>A (p.Val64Met) http://identifiers.org/clinvar/350889 ^@ NM_000358.2(TGFBI):c.1454G>A (p.Arg485Lys) http://identifiers.org/clinvar/353026 ^@ NM_017838.3(NHP2):c.160+11C>T http://identifiers.org/clinvar/347693 ^@ NM_000901.4(NR3C2):c.*1465G>A http://identifiers.org/clinvar/347697 ^@ NM_000901.4(NR3C2):c.*1365G>A http://identifiers.org/clinvar/353031 ^@ NM_017838.3(NHP2):c.-61G>T http://identifiers.org/clinvar/353038 ^@ NM_014244.4(ADAMTS2):c.*2918G>A http://identifiers.org/clinvar/347718 ^@ NM_000901.4(NR3C2):c.2809G>A (p.Asp937Asn) http://identifiers.org/clinvar/347637 ^@ NM_172250.2(MMAA):c.*1988A>T http://identifiers.org/clinvar/350891 ^@ NM_000358.2(TGFBI):c.1540C>T (p.Arg514Cys) http://identifiers.org/clinvar/350893 ^@ NM_000358.2(TGFBI):c.1749C>T (p.Ile583=) http://identifiers.org/clinvar/350897 ^@ NM_000358.2(TGFBI):c.*40C>T http://identifiers.org/clinvar/347640 ^@ NM_172250.2(MMAA):c.*2343A>G http://identifiers.org/clinvar/353039 ^@ NM_014244.4(ADAMTS2):c.*2854T>C http://identifiers.org/clinvar/353042 ^@ NM_014244.4(ADAMTS2):c.*2598A>G http://identifiers.org/clinvar/353047 ^@ NM_014244.4(ADAMTS2):c.*2439C>T http://identifiers.org/clinvar/347725 ^@ NM_000901.4(NR3C2):c.2087C>T (p.Pro696Leu) http://identifiers.org/clinvar/353050 ^@ NM_014244.4(ADAMTS2):c.*2270C>T http://identifiers.org/clinvar/353052 ^@ NM_014244.4(ADAMTS2):c.*2147C>T http://identifiers.org/clinvar/353057 ^@ NM_014244.4(ADAMTS2):c.*1797C>T http://identifiers.org/clinvar/347728 ^@ NM_000901.4(NR3C2):c.1705A>G (p.Arg569Gly) http://identifiers.org/clinvar/347730 ^@ NM_000901.4(NR3C2):c.1661A>G (p.Asn554Ser) http://identifiers.org/clinvar/347733 ^@ NM_000901.4(NR3C2):c.1092G>A (p.Thr364=) http://identifiers.org/clinvar/347648 ^@ NM_172250.2(MMAA):c.*2617C>A http://identifiers.org/clinvar/350903 ^@ NM_001369.2(DNAH5):c.*1506G>A http://identifiers.org/clinvar/347734 ^@ NM_000901.4(NR3C2):c.747C>T (p.His249=) http://identifiers.org/clinvar/350915 ^@ NM_001369.2(DNAH5):c.*426C>T http://identifiers.org/clinvar/350916 ^@ NM_001369.2(DNAH5):c.*92G>A http://identifiers.org/clinvar/351006 ^@ NM_001369.2(DNAH5):c.13072C>T (p.Arg4358Trp) http://identifiers.org/clinvar/347736 ^@ NM_000901.4(NR3C2):c.534C>T (p.Arg178=) http://identifiers.org/clinvar/351007 ^@ NM_001369.2(DNAH5):c.13070C>G (p.Ala4357Gly) http://identifiers.org/clinvar/353060 ^@ NM_014244.4(ADAMTS2):c.*1586A>G http://identifiers.org/clinvar/351016 ^@ NM_001369.2(DNAH5):c.12500-11G>A http://identifiers.org/clinvar/351037 ^@ NM_001369.2(DNAH5):c.11586G>A (p.Pro3862=) http://identifiers.org/clinvar/353067 ^@ NM_014244.4(ADAMTS2):c.*1361A>G http://identifiers.org/clinvar/353072 ^@ NM_014244.4(ADAMTS2):c.*843G>A http://identifiers.org/clinvar/353074 ^@ NM_014244.4(ADAMTS2):c.*816C>T http://identifiers.org/clinvar/347652 ^@ NM_172250.2(MMAA):c.*2768A>T http://identifiers.org/clinvar/347655 ^@ NM_172250.2(MMAA):c.*2866A>G http://identifiers.org/clinvar/347660 ^@ NM_172250.2(MMAA):c.*3254A>C http://identifiers.org/clinvar/347749 ^@ NM_000901.4(NR3C2):c.-348C>G http://identifiers.org/clinvar/347766 ^@ NM_005141.4(FGB):c.-6_-5delGT http://identifiers.org/clinvar/347666 ^@ NM_172250.2(MMAA):c.*3801A>G http://identifiers.org/clinvar/353082 ^@ NM_014244.4(ADAMTS2):c.*181C>T http://identifiers.org/clinvar/347669 ^@ NM_172250.2(MMAA):c.*4119delA http://identifiers.org/clinvar/353085 ^@ NM_014244.4(ADAMTS2):c.3480C>A (p.Ala1160=) http://identifiers.org/clinvar/347673 ^@ NM_000901.4(NR3C2):c.*2471G>A http://identifiers.org/clinvar/353086 ^@ NM_014244.4(ADAMTS2):c.3449A>G (p.Asn1150Ser) http://identifiers.org/clinvar/353092 ^@ NM_014244.4(ADAMTS2):c.2980G>A (p.Gly994Ser) http://identifiers.org/clinvar/347683 ^@ NM_000901.4(NR3C2):c.*1802G>A http://identifiers.org/clinvar/347769 ^@ NM_005141.4(FGB):c.200G>C (p.Ser67Thr) http://identifiers.org/clinvar/347770 ^@ NM_005141.4(FGB):c.251A>C (p.Lys84Thr) http://identifiers.org/clinvar/347685 ^@ NM_000901.4(NR3C2):c.*1758A>G http://identifiers.org/clinvar/353096 ^@ NM_014244.4(ADAMTS2):c.2817C>T (p.Ser939=) http://identifiers.org/clinvar/347772 ^@ NM_005141.4(FGB):c.318T>C (p.Cys106=) http://identifiers.org/clinvar/353102 ^@ NM_014244.4(ADAMTS2):c.2532C>T (p.Asp844=) http://identifiers.org/clinvar/351042 ^@ NM_001369.2(DNAH5):c.10738G>A (p.Gly3580Ser) http://identifiers.org/clinvar/350924 ^@ NM_017415.2(KLHL3):c.*4066C>T http://identifiers.org/clinvar/350932 ^@ NM_017415.2(KLHL3):c.*3271A>G http://identifiers.org/clinvar/347686 ^@ NM_000901.4(NR3C2):c.*1726_*1729dupATCT http://identifiers.org/clinvar/350933 ^@ NM_017415.2(KLHL3):c.*3209dupT http://identifiers.org/clinvar/350935 ^@ NM_017415.2(KLHL3):c.*3207_*3208delAA http://identifiers.org/clinvar/350934 ^@ NM_017415.2(KLHL3):c.*3208delA http://identifiers.org/clinvar/350936 ^@ NM_017415.2(KLHL3):c.*3205_*3206insTT http://identifiers.org/clinvar/353103 ^@ NM_014244.4(ADAMTS2):c.2480G>A (p.Arg827Gln) http://identifiers.org/clinvar/350940 ^@ NM_017415.2(KLHL3):c.*3204A>T http://identifiers.org/clinvar/350942 ^@ NM_017415.2(KLHL3):c.*3068A>G http://identifiers.org/clinvar/353109 ^@ NM_014244.4(ADAMTS2):c.2276C>A (p.Thr759Asn) http://identifiers.org/clinvar/347688 ^@ NM_000901.4(NR3C2):c.*1541_*1544dupTAGA http://identifiers.org/clinvar/353113 ^@ NM_014244.4(ADAMTS2):c.2073C>T (p.Arg691=) http://identifiers.org/clinvar/347778 ^@ NM_005141.4(FGB):c.*36A>G http://identifiers.org/clinvar/353122 ^@ NM_014244.4(ADAMTS2):c.1431G>A (p.Ala477=) http://identifiers.org/clinvar/350943 ^@ NM_017415.2(KLHL3):c.*2926T>C http://identifiers.org/clinvar/353128 ^@ NM_014244.4(ADAMTS2):c.936C>T (p.Asn312=) http://identifiers.org/clinvar/347779 ^@ NM_005141.4(FGB):c.*303C>T http://identifiers.org/clinvar/347783 ^@ NM_005141.4(FGB):c.*443G>A http://identifiers.org/clinvar/347785 ^@ NM_005141.4(FGB):c.*496G>A http://identifiers.org/clinvar/347794 ^@ NM_005141.4(FGB):c.*1409C>A http://identifiers.org/clinvar/353129 ^@ NM_014244.4(ADAMTS2):c.858C>T (p.His286=) http://identifiers.org/clinvar/353131 ^@ NM_014244.4(ADAMTS2):c.784G>A (p.Ala262Thr) http://identifiers.org/clinvar/347700 ^@ NM_000901.4(NR3C2):c.*1209G>A http://identifiers.org/clinvar/347701 ^@ NM_000901.4(NR3C2):c.*1206G>C http://identifiers.org/clinvar/347707 ^@ NM_000901.4(NR3C2):c.*804G>T http://identifiers.org/clinvar/347795 ^@ NM_005141.4(FGB):c.*1444C>A http://identifiers.org/clinvar/347801 ^@ NM_005141.4(FGB):c.*1671C>T http://identifiers.org/clinvar/350944 ^@ NM_017415.2(KLHL3):c.*2805A>G http://identifiers.org/clinvar/353132 ^@ NM_014244.4(ADAMTS2):c.764G>A (p.Arg255Gln) http://identifiers.org/clinvar/353135 ^@ NM_014244.4(ADAMTS2):c.724G>A (p.Ala242Thr) http://identifiers.org/clinvar/350949 ^@ NM_017415.2(KLHL3):c.*2448C>T http://identifiers.org/clinvar/350950 ^@ NM_017415.2(KLHL3):c.*2404C>A http://identifiers.org/clinvar/350955 ^@ NM_017415.2(KLHL3):c.*2156A>G http://identifiers.org/clinvar/347708 ^@ NM_000901.4(NR3C2):c.*755A>C http://identifiers.org/clinvar/353136 ^@ NM_014244.4(ADAMTS2):c.722G>A (p.Arg241His) http://identifiers.org/clinvar/353137 ^@ NM_014244.4(ADAMTS2):c.710A>C (p.Asp237Ala) http://identifiers.org/clinvar/347712 ^@ NM_000901.4(NR3C2):c.*416T>C http://identifiers.org/clinvar/347802 ^@ NM_005141.4(FGB):c.*1738G>A http://identifiers.org/clinvar/350959 ^@ NM_017415.2(KLHL3):c.*1896T>G http://identifiers.org/clinvar/350969 ^@ NM_017415.2(KLHL3):c.*1034C>T http://identifiers.org/clinvar/350970 ^@ NM_017415.2(KLHL3):c.*790G>A http://identifiers.org/clinvar/347804 ^@ NM_005141.4(FGB):c.*1867T>C http://identifiers.org/clinvar/350975 ^@ NM_017415.2(KLHL3):c.*481G>A http://identifiers.org/clinvar/353138 ^@ NM_014244.4(ADAMTS2):c.701A>G (p.Asp234Gly) http://identifiers.org/clinvar/353153 ^@ NM_003900.4(SQSTM1):c.-17C>T http://identifiers.org/clinvar/350979 ^@ NM_017415.2(KLHL3):c.*224G>T http://identifiers.org/clinvar/350988 ^@ NM_017415.2(KLHL3):c.1118A>G (p.Gln373Arg) http://identifiers.org/clinvar/353156 ^@ NM_003900.4(SQSTM1):c.181G>A (p.Gly61Ser) http://identifiers.org/clinvar/353158 ^@ NM_003900.4(SQSTM1):c.253A>G (p.Met85Val) http://identifiers.org/clinvar/353162 ^@ NM_003900.4(SQSTM1):c.811G>A (p.Val271Ile) http://identifiers.org/clinvar/353163 ^@ NM_003900.4(SQSTM1):c.819A>G (p.Pro273=) http://identifiers.org/clinvar/353165 ^@ NM_003900.4(SQSTM1):c.955G>A (p.Glu319Lys) http://identifiers.org/clinvar/347810 ^@ NM_021871.3(FGA):c.1444G>A (p.Val482Met) http://identifiers.org/clinvar/350997 ^@ NM_017415.2(KLHL3):c.-170T>C http://identifiers.org/clinvar/353167 ^@ NM_003900.4(SQSTM1):c.*60C>T http://identifiers.org/clinvar/350998 ^@ NM_017415.2(KLHL3):c.-256T>A http://identifiers.org/clinvar/350999 ^@ NM_017415.2(KLHL3):c.-275G>C http://identifiers.org/clinvar/351021 ^@ NM_006790.2(MYOT):c.-89delG http://identifiers.org/clinvar/347714 ^@ NM_000901.4(NR3C2):c.*325G>A http://identifiers.org/clinvar/347724 ^@ NM_000901.4(NR3C2):c.2102C>G (p.Pro701Arg) http://identifiers.org/clinvar/351023 ^@ NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) http://identifiers.org/clinvar/347729 ^@ NM_000901.4(NR3C2):c.1689C>T (p.His563=) http://identifiers.org/clinvar/347731 ^@ NM_000901.4(NR3C2):c.1559G>T (p.Gly520Val) http://identifiers.org/clinvar/351033 ^@ NM_006790.2(MYOT):c.*418T>C http://identifiers.org/clinvar/353170 ^@ NM_003900.4(SQSTM1):c.*175T>G http://identifiers.org/clinvar/347811 ^@ NM_021871.3(FGA):c.1417G>A (p.Asp473Asn) http://identifiers.org/clinvar/347737 ^@ NM_000901.4(NR3C2):c.449G>A (p.Arg150His) http://identifiers.org/clinvar/353178 ^@ NM_003900.4(SQSTM1):c.*837G>A http://identifiers.org/clinvar/353182 ^@ NM_003900.4(SQSTM1):c.*1138T>C http://identifiers.org/clinvar/353183 ^@ NM_003900.4(SQSTM1):c.*1205T>C http://identifiers.org/clinvar/347739 ^@ NM_000901.4(NR3C2):c.-3+10G>A http://identifiers.org/clinvar/347744 ^@ NM_000901.4(NR3C2):c.-228T>C http://identifiers.org/clinvar/351034 ^@ NM_006790.2(MYOT):c.*463C>T http://identifiers.org/clinvar/347748 ^@ NM_000901.4(NR3C2):c.-328C>T http://identifiers.org/clinvar/351065 ^@ NM_001369.2(DNAH5):c.7037T>C (p.Ile2346Thr) http://identifiers.org/clinvar/351079 ^@ NM_001369.2(DNAH5):c.6062-4G>A http://identifiers.org/clinvar/351087 ^@ NM_001369.2(DNAH5):c.5848A>G (p.Thr1950Ala) http://identifiers.org/clinvar/347768 ^@ NM_005141.4(FGB):c.114+11delT http://identifiers.org/clinvar/351093 ^@ NM_001369.2(DNAH5):c.5272-13dupG http://identifiers.org/clinvar/353185 ^@ NM_003900.4(SQSTM1):c.*1301_*1302delGA http://identifiers.org/clinvar/353186 ^@ NM_003900.4(SQSTM1):c.*1322G>T http://identifiers.org/clinvar/351096 ^@ NM_001369.2(DNAH5):c.5272-15delT http://identifiers.org/clinvar/351094 ^@ NM_001369.2(DNAH5):c.5272-15dupT http://identifiers.org/clinvar/351113 ^@ NM_001369.2(DNAH5):c.4707A>G (p.Gly1569=) http://identifiers.org/clinvar/347775 ^@ NM_005141.4(FGB):c.1113A>G (p.Ser371=) http://identifiers.org/clinvar/353187 ^@ NM_003900.4(SQSTM1):c.*1336C>T http://identifiers.org/clinvar/347784 ^@ NM_005141.4(FGB):c.*447T>C http://identifiers.org/clinvar/353189 ^@ NM_004553.4(NDUFS6):c.24C>T (p.Cys8=) http://identifiers.org/clinvar/347788 ^@ NM_005141.4(FGB):c.*624C>T http://identifiers.org/clinvar/347813 ^@ NM_021871.3(FGA):c.919A>G (p.Asn307Asp) http://identifiers.org/clinvar/351190 ^@ NM_001369.2(DNAH5):c.3650T>C (p.Ile1217Thr) http://identifiers.org/clinvar/351193 ^@ NM_001369.2(DNAH5):c.3179A>T (p.Lys1060Met) http://identifiers.org/clinvar/353203 ^@ NM_004168.3(SDHA):c.723C>T (p.Asp241=) http://identifiers.org/clinvar/347789 ^@ NM_005141.4(FGB):c.*834delA http://identifiers.org/clinvar/353204 ^@ NM_004168.3(SDHA):c.1092C>T (p.Val364=) http://identifiers.org/clinvar/347791 ^@ NM_005141.4(FGB):c.*918C>G http://identifiers.org/clinvar/347805 ^@ NM_005141.4(FGB):c.*1998A>G http://identifiers.org/clinvar/353206 ^@ NM_004168.3(SDHA):c.1909-12_1909-11delCT http://identifiers.org/clinvar/353211 ^@ NM_016180.4(SLC45A2):c.1533G>A (p.Ala511=) http://identifiers.org/clinvar/347814 ^@ NM_021871.3(FGA):c.904C>G (p.Pro302Ala) http://identifiers.org/clinvar/347816 ^@ NM_021871.3(FGA):c.765G>A (p.Pro255=) http://identifiers.org/clinvar/347817 ^@ NM_021871.3(FGA):c.666A>T (p.Pro222=) http://identifiers.org/clinvar/351194 ^@ NM_001369.2(DNAH5):c.3084A>G (p.Glu1028=) http://identifiers.org/clinvar/347821 ^@ NM_021871.3(FGA):c.346G>A (p.Asp116Asn) http://identifiers.org/clinvar/351198 ^@ NM_001369.2(DNAH5):c.2578-7_2578-6delTG http://identifiers.org/clinvar/353220 ^@ NM_016180.4(SLC45A2):c.232C>A (p.Pro78Thr) http://identifiers.org/clinvar/353222 ^@ NM_014324.5(AMACR):c.*2088A>T http://identifiers.org/clinvar/353225 ^@ NM_014324.5(AMACR):c.*1945A>G http://identifiers.org/clinvar/353238 ^@ NM_014324.5(AMACR):c.*1070C>T http://identifiers.org/clinvar/347822 ^@ NM_021871.3(FGA):c.244A>C (p.Thr82Pro) http://identifiers.org/clinvar/347823 ^@ NM_021871.3(FGA):c.16A>G (p.Ile6Val) http://identifiers.org/clinvar/347824 ^@ NM_021871.3(FGA):c.-58A>G http://identifiers.org/clinvar/353242 ^@ NM_014324.5(AMACR):c.*753T>G http://identifiers.org/clinvar/353246 ^@ NM_014324.5(AMACR):c.*573dupA http://identifiers.org/clinvar/351073 ^@ NM_022464.4(SIL1):c.*30C>T http://identifiers.org/clinvar/351203 ^@ NM_001369.2(DNAH5):c.2368G>A (p.Ala790Thr) http://identifiers.org/clinvar/351204 ^@ NM_001369.2(DNAH5):c.2260-12A>G http://identifiers.org/clinvar/347833 ^@ NM_000509.5(FGG):c.19C>T (p.Pro7Ser) http://identifiers.org/clinvar/347846 ^@ NM_004744.4(LRAT):c.-84C>T http://identifiers.org/clinvar/347847 ^@ NM_004744.4(LRAT):c.-2+7A>C http://identifiers.org/clinvar/347853 ^@ NM_004744.4(LRAT):c.*106T>C http://identifiers.org/clinvar/347857 ^@ NM_004744.4(LRAT):c.*549T>C http://identifiers.org/clinvar/353256 ^@ NM_014324.5(AMACR):c.48G>A (p.Pro16=) http://identifiers.org/clinvar/347858 ^@ NM_004744.4(LRAT):c.*632T>C http://identifiers.org/clinvar/347859 ^@ NM_004744.4(LRAT):c.*640T>C http://identifiers.org/clinvar/353261 ^@ NM_002185.3(IL7R):c.153G>A (p.Ser51=) http://identifiers.org/clinvar/351205 ^@ NM_001369.2(DNAH5):c.2203G>C (p.Ala735Pro) http://identifiers.org/clinvar/351085 ^@ NM_022464.4(SIL1):c.454-6C>T http://identifiers.org/clinvar/351086 ^@ NM_022464.4(SIL1):c.274C>T (p.Arg92Trp) http://identifiers.org/clinvar/347860 ^@ NM_004744.4(LRAT):c.*671A>G http://identifiers.org/clinvar/347806 ^@ NM_021871.3(FGA):c.*50T>G http://identifiers.org/clinvar/347861 ^@ NM_004744.4(LRAT):c.*817A>G http://identifiers.org/clinvar/347863 ^@ NM_004744.4(LRAT):c.*1155T>A http://identifiers.org/clinvar/347807 ^@ NM_021871.3(FGA):c.1838A>G (p.His613Arg) http://identifiers.org/clinvar/353270 ^@ NM_002185.3(IL7R):c.1165G>C (p.Asp389His) http://identifiers.org/clinvar/351102 ^@ NM_022464.4(SIL1):c.-1T>C http://identifiers.org/clinvar/353271 ^@ NM_002185.3(IL7R):c.*266dupA http://identifiers.org/clinvar/353276 ^@ NM_002185.3(IL7R):c.*554G>A http://identifiers.org/clinvar/347867 ^@ NM_004744.4(LRAT):c.*1867C>T http://identifiers.org/clinvar/353279 ^@ NM_002185.3(IL7R):c.*674A>G http://identifiers.org/clinvar/353280 ^@ NM_002185.3(IL7R):c.*735C>T http://identifiers.org/clinvar/353281 ^@ NM_002185.3(IL7R):c.*807G>A http://identifiers.org/clinvar/351210 ^@ NM_001369.2(DNAH5):c.1475C>A (p.Thr492Lys) http://identifiers.org/clinvar/351211 ^@ NM_001369.2(DNAH5):c.1420G>A (p.Glu474Lys) http://identifiers.org/clinvar/351219 ^@ NM_001369.2(DNAH5):c.536C>A (p.Thr179Lys) http://identifiers.org/clinvar/347808 ^@ NM_021871.3(FGA):c.1823G>C (p.Gly608Ala) http://identifiers.org/clinvar/347815 ^@ NM_021871.3(FGA):c.822C>T (p.Ser274=) http://identifiers.org/clinvar/347869 ^@ NM_004744.4(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT http://identifiers.org/clinvar/347871 ^@ NM_004744.4(LRAT):c.*2396C>G http://identifiers.org/clinvar/347819 ^@ NM_021871.3(FGA):c.614A>G (p.Glu205Gly) http://identifiers.org/clinvar/347879 ^@ NM_004744.4(LRAT):c.*2670G>T http://identifiers.org/clinvar/347880 ^@ NM_004744.4(LRAT):c.*2741_*2743dupATG http://identifiers.org/clinvar/347882 ^@ NM_004744.4(LRAT):c.*3264G>A http://identifiers.org/clinvar/347886 ^@ NM_004744.4(LRAT):c.*3654T>C http://identifiers.org/clinvar/353282 ^@ NM_002185.3(IL7R):c.*830A>C http://identifiers.org/clinvar/353284 ^@ NM_002185.3(IL7R):c.*917G>A http://identifiers.org/clinvar/353292 ^@ NM_002185.3(IL7R):c.*1545G>C http://identifiers.org/clinvar/347889 ^@ NM_004744.4(LRAT):c.*3770A>G http://identifiers.org/clinvar/347893 ^@ NM_004744.4(LRAT):c.*3980T>C http://identifiers.org/clinvar/347755 ^@ NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) http://identifiers.org/clinvar/347759 ^@ NM_001080522.2(CC2D2A):c.1827G>A (p.Glu609=) http://identifiers.org/clinvar/351222 ^@ NM_001369.2(DNAH5):c.393C>T (p.Ile131=) http://identifiers.org/clinvar/353297 ^@ NM_002185.3(IL7R):c.*1661G>A http://identifiers.org/clinvar/351111 ^@ NM_199189.2(MATR3):c.-610C>G http://identifiers.org/clinvar/353300 ^@ NM_002185.3(IL7R):c.*1902C>T http://identifiers.org/clinvar/347825 ^@ NM_000509.5(FGG):c.1308C>T (p.Asp436=) http://identifiers.org/clinvar/353306 ^@ NM_004172.4(SLC1A3):c.15T>C (p.Asn5=) http://identifiers.org/clinvar/347827 ^@ NM_000509.5(FGG):c.1237A>G (p.Ile413Val) http://identifiers.org/clinvar/351117 ^@ NM_199189.2(MATR3):c.-103dupT http://identifiers.org/clinvar/351118 ^@ NM_199189.2(MATR3):c.-56G>A http://identifiers.org/clinvar/347830 ^@ NM_000509.5(FGG):c.418T>C (p.Tyr140His) http://identifiers.org/clinvar/347832 ^@ NM_000509.5(FGG):c.274C>T (p.Leu92Phe) http://identifiers.org/clinvar/347751 ^@ NM_001080522.2(CC2D2A):c.-32G>A http://identifiers.org/clinvar/347852 ^@ NM_004744.4(LRAT):c.*98C>T http://identifiers.org/clinvar/347872 ^@ NM_004744.4(LRAT):c.*2418G>A http://identifiers.org/clinvar/347874 ^@ NM_004744.4(LRAT):c.*2463T>C http://identifiers.org/clinvar/351121 ^@ NM_199189.2(MATR3):c.291A>G (p.Leu97=) http://identifiers.org/clinvar/347762 ^@ NM_001080522.2(CC2D2A):c.1947G>A (p.Thr649=) http://identifiers.org/clinvar/353310 ^@ NM_004172.4(SLC1A3):c.227G>A (p.Arg76Gln) http://identifiers.org/clinvar/351126 ^@ NM_199189.2(MATR3):c.1347C>T (p.Ala449=) http://identifiers.org/clinvar/351128 ^@ NM_199189.2(MATR3):c.1734+11T>G http://identifiers.org/clinvar/347876 ^@ NM_004744.4(LRAT):c.*2477_*2479delAGT http://identifiers.org/clinvar/347881 ^@ NM_004744.4(LRAT):c.*2968C>G http://identifiers.org/clinvar/347763 ^@ NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) http://identifiers.org/clinvar/347888 ^@ NM_004744.4(LRAT):c.*3729delT http://identifiers.org/clinvar/347765 ^@ NM_001080522.2(CC2D2A):c.2133G>C (p.Gln711His) http://identifiers.org/clinvar/347838 ^@ NM_001080522.2(CC2D2A):c.2486+8A>G http://identifiers.org/clinvar/351130 ^@ NM_199189.2(MATR3):c.1879C>G (p.Gln627Glu) http://identifiers.org/clinvar/347840 ^@ NM_001080522.2(CC2D2A):c.2526A>G (p.Thr842=) http://identifiers.org/clinvar/351133 ^@ NM_199189.2(MATR3):c.1991A>C (p.Glu664Ala) http://identifiers.org/clinvar/353315 ^@ NM_004172.4(SLC1A3):c.792G>A (p.Gly264=) http://identifiers.org/clinvar/353326 ^@ NM_004172.4(SLC1A3):c.*33G>A http://identifiers.org/clinvar/351134 ^@ NM_199189.2(MATR3):c.2031C>T (p.Asp677=) http://identifiers.org/clinvar/351136 ^@ NM_199189.2(MATR3):c.2242T>C (p.Ser748Pro) http://identifiers.org/clinvar/351143 ^@ NM_199189.2(MATR3):c.2521C>T (p.Arg841Cys) http://identifiers.org/clinvar/347894 ^@ NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) http://identifiers.org/clinvar/347904 ^@ NM_001080522.2(CC2D2A):c.4442A>C (p.Glu1481Ala) http://identifiers.org/clinvar/347906 ^@ NM_001080522.2(CC2D2A):c.4675-12T>G http://identifiers.org/clinvar/351152 ^@ NM_199189.2(MATR3):c.*313A>G http://identifiers.org/clinvar/351154 ^@ NM_199189.2(MATR3):c.*413A>T http://identifiers.org/clinvar/353342 ^@ NM_004172.4(SLC1A3):c.*970_*976delTGATAGA http://identifiers.org/clinvar/353345 ^@ NM_004172.4(SLC1A3):c.*1050G>C http://identifiers.org/clinvar/347890 ^@ NM_004744.4(LRAT):c.*3819T>C http://identifiers.org/clinvar/347892 ^@ NM_004744.4(LRAT):c.*3978C>T http://identifiers.org/clinvar/351157 ^@ NM_199189.2(MATR3):c.*640A>G http://identifiers.org/clinvar/353349 ^@ NM_004172.4(SLC1A3):c.*1229A>G http://identifiers.org/clinvar/351162 ^@ NM_199189.2(MATR3):c.*770A>G http://identifiers.org/clinvar/347752 ^@ NM_001080522.2(CC2D2A):c.10A>G (p.Arg4Gly) http://identifiers.org/clinvar/353350 ^@ NM_004172.4(SLC1A3):c.*1282T>C http://identifiers.org/clinvar/353354 ^@ NM_004172.4(SLC1A3):c.*1485C>T http://identifiers.org/clinvar/351163 ^@ NM_199189.2(MATR3):c.*929G>A http://identifiers.org/clinvar/353356 ^@ NM_004172.4(SLC1A3):c.*1656G>C http://identifiers.org/clinvar/351165 ^@ NM_199189.2(MATR3):c.*1087G>C http://identifiers.org/clinvar/351168 ^@ NM_199189.2(MATR3):c.*1259G>C http://identifiers.org/clinvar/351169 ^@ NM_199189.2(MATR3):c.*1278T>C http://identifiers.org/clinvar/347911 ^@ NM_000824.4(GLRB):c.-102T>C http://identifiers.org/clinvar/351170 ^@ NM_199189.2(MATR3):c.*1288T>G http://identifiers.org/clinvar/353357 ^@ NM_004172.4(SLC1A3):c.*1727A>G http://identifiers.org/clinvar/351175 ^@ NM_199189.2(MATR3):c.*1757T>C http://identifiers.org/clinvar/353359 ^@ NM_133433.3(NIPBL):c.-429delC http://identifiers.org/clinvar/347754 ^@ NM_001080522.2(CC2D2A):c.541-5G>A http://identifiers.org/clinvar/353371 ^@ NM_133433.3(NIPBL):c.179A>G (p.Asn60Ser) http://identifiers.org/clinvar/353372 ^@ NM_133433.3(NIPBL):c.1208C>T (p.Thr403Ile) http://identifiers.org/clinvar/347913 ^@ NM_000824.4(GLRB):c.-26G>T http://identifiers.org/clinvar/347930 ^@ NM_000824.4(GLRB):c.*84G>A http://identifiers.org/clinvar/353373 ^@ NM_133433.3(NIPBL):c.1376T>G (p.Ile459Arg) http://identifiers.org/clinvar/351184 ^@ NM_199189.2(MATR3):c.*2194T>A http://identifiers.org/clinvar/351224 ^@ NM_002488.4(NDUFA2):c.177C>T (p.Ser59=) http://identifiers.org/clinvar/347933 ^@ NM_000824.4(GLRB):c.*162A>G http://identifiers.org/clinvar/351228 ^@ NM_002488.4(NDUFA2):c.-51C>A http://identifiers.org/clinvar/353383 ^@ NM_133433.3(NIPBL):c.5168G>A (p.Arg1723Gln) http://identifiers.org/clinvar/351230 ^@ NM_002488.4(NDUFA2):c.-63G>A http://identifiers.org/clinvar/347937 ^@ NM_000824.4(GLRB):c.*467dupA http://identifiers.org/clinvar/347940 ^@ NM_000824.4(GLRB):c.*542T>A http://identifiers.org/clinvar/351231 ^@ NM_002488.4(NDUFA2):c.-136A>G http://identifiers.org/clinvar/347756 ^@ NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) http://identifiers.org/clinvar/351233 ^@ NM_002109.5(HARS):c.*331A>T http://identifiers.org/clinvar/347758 ^@ NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) http://identifiers.org/clinvar/347841 ^@ NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) http://identifiers.org/clinvar/347843 ^@ NM_001080522.2(CC2D2A):c.2734A>G (p.Arg912Gly) http://identifiers.org/clinvar/347896 ^@ NM_001080522.2(CC2D2A):c.3398+7A>G http://identifiers.org/clinvar/347897 ^@ NM_001080522.2(CC2D2A):c.3398+13T>C http://identifiers.org/clinvar/347899 ^@ NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) http://identifiers.org/clinvar/353385 ^@ NM_133433.3(NIPBL):c.5710-13C>T http://identifiers.org/clinvar/353392 ^@ NM_133433.3(NIPBL):c.*265_*266delCT http://identifiers.org/clinvar/351234 ^@ NM_002109.5(HARS):c.*312C>G http://identifiers.org/clinvar/351237 ^@ NM_002109.5(HARS):c.800T>C (p.Ile267Thr) http://identifiers.org/clinvar/351241 ^@ NM_002109.5(HARS):c.182G>A (p.Gly61Asp) http://identifiers.org/clinvar/347948 ^@ NM_000824.4(GLRB):c.*1181C>T http://identifiers.org/clinvar/351244 ^@ NM_002109.5(HARS):c.-3G>A http://identifiers.org/clinvar/347902 ^@ NM_001080522.2(CC2D2A):c.4098A>C (p.Glu1366Asp) http://identifiers.org/clinvar/353395 ^@ NM_133433.3(NIPBL):c.*460delA http://identifiers.org/clinvar/351252 ^@ NM_002109.5(HARS):c.-228C>G http://identifiers.org/clinvar/353398 ^@ NM_133433.3(NIPBL):c.*742_*743delCA http://identifiers.org/clinvar/347905 ^@ NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) http://identifiers.org/clinvar/347907 ^@ NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) http://identifiers.org/clinvar/353399 ^@ NM_023073.3(C5orf42):c.*1369C>A http://identifiers.org/clinvar/351254 ^@ NM_005219.4(DIAPH1):c.*1715_*1718delAGAG http://identifiers.org/clinvar/351256 ^@ NM_005219.4(DIAPH1):c.*1637G>C http://identifiers.org/clinvar/351263 ^@ NM_005219.4(DIAPH1):c.*1395C>T http://identifiers.org/clinvar/347952 ^@ NM_004453.3(ETFDH):c.-239G>A http://identifiers.org/clinvar/353404 ^@ NM_023073.3(C5orf42):c.*661T>G http://identifiers.org/clinvar/347953 ^@ NM_004453.3(ETFDH):c.-174A>G http://identifiers.org/clinvar/353406 ^@ NM_023073.3(C5orf42):c.*641C>T http://identifiers.org/clinvar/353410 ^@ NM_023073.3(C5orf42):c.*423C>G http://identifiers.org/clinvar/351268 ^@ NM_005219.4(DIAPH1):c.*1304A>G http://identifiers.org/clinvar/347958 ^@ NM_004453.3(ETFDH):c.1116+7C>T http://identifiers.org/clinvar/353414 ^@ NM_023073.3(C5orf42):c.9412C>G (p.Leu3138Val) http://identifiers.org/clinvar/353423 ^@ NM_023073.3(C5orf42):c.8501+8_8501+12delTCTTA http://identifiers.org/clinvar/353438 ^@ NM_023073.3(C5orf42):c.7298T>C (p.Leu2433Pro) http://identifiers.org/clinvar/353454 ^@ NM_023073.3(C5orf42):c.3595C>T (p.Arg1199Trp) http://identifiers.org/clinvar/347912 ^@ NM_000824.4(GLRB):c.-69C>T http://identifiers.org/clinvar/347916 ^@ NM_000824.4(GLRB):c.229+8T>G http://identifiers.org/clinvar/347917 ^@ NM_000824.4(GLRB):c.297+10C>T http://identifiers.org/clinvar/353462 ^@ NM_023073.3(C5orf42):c.1123C>T (p.Pro375Ser) http://identifiers.org/clinvar/353464 ^@ NM_023073.3(C5orf42):c.959T>C (p.Ile320Thr) http://identifiers.org/clinvar/347966 ^@ NM_006017.2(PROM1):c.*963A>G http://identifiers.org/clinvar/347973 ^@ NM_006017.2(PROM1):c.2508G>A (p.Met836Ile) http://identifiers.org/clinvar/347922 ^@ NM_000824.4(GLRB):c.904+4A>G http://identifiers.org/clinvar/353466 ^@ NM_023073.3(C5orf42):c.662T>C (p.Val221Ala) http://identifiers.org/clinvar/351270 ^@ NM_005219.4(DIAPH1):c.*1006T>C http://identifiers.org/clinvar/353469 ^@ NM_023073.3(C5orf42):c.361T>C (p.Tyr121His) http://identifiers.org/clinvar/347974 ^@ NM_006017.2(PROM1):c.2480T>C (p.Val827Ala) http://identifiers.org/clinvar/353474 ^@ NM_000514.3(GDNF):c.*2713G>A http://identifiers.org/clinvar/347980 ^@ NM_006017.2(PROM1):c.2281-5C>G http://identifiers.org/clinvar/353476 ^@ NM_000514.3(GDNF):c.*2643C>T http://identifiers.org/clinvar/353478 ^@ NM_000514.3(GDNF):c.*2440G>A http://identifiers.org/clinvar/347981 ^@ NM_006017.2(PROM1):c.2211+7C>T http://identifiers.org/clinvar/353485 ^@ NM_000514.3(GDNF):c.*1898C>A http://identifiers.org/clinvar/347986 ^@ NM_006017.2(PROM1):c.1717C>T (p.Leu573Phe) http://identifiers.org/clinvar/347987 ^@ NM_006017.2(PROM1):c.1683-3C>T http://identifiers.org/clinvar/351274 ^@ NM_005219.4(DIAPH1):c.*734C>T http://identifiers.org/clinvar/353486 ^@ NM_000514.3(GDNF):c.*1788G>A http://identifiers.org/clinvar/347988 ^@ NM_006017.2(PROM1):c.1579-6T>C http://identifiers.org/clinvar/353490 ^@ NM_000514.3(GDNF):c.*1657C>A http://identifiers.org/clinvar/353492 ^@ NM_000514.3(GDNF):c.*1627C>T http://identifiers.org/clinvar/347924 ^@ NM_000824.4(GLRB):c.948T>C (p.Leu316=) http://identifiers.org/clinvar/351278 ^@ NM_005219.4(DIAPH1):c.*533G>A http://identifiers.org/clinvar/351288 ^@ NM_005219.4(DIAPH1):c.2200G>A (p.Gly734Arg) http://identifiers.org/clinvar/347926 ^@ NM_000824.4(GLRB):c.1037A>G (p.Glu346Gly) http://identifiers.org/clinvar/353497 ^@ NM_000514.3(GDNF):c.*1541T>A http://identifiers.org/clinvar/347934 ^@ NM_000824.4(GLRB):c.*251A>G http://identifiers.org/clinvar/347942 ^@ NM_000824.4(GLRB):c.*789A>G http://identifiers.org/clinvar/347950 ^@ NM_000824.4(GLRB):c.*1345A>G http://identifiers.org/clinvar/347989 ^@ NM_006017.2(PROM1):c.1578+9G>C http://identifiers.org/clinvar/353503 ^@ NM_000514.3(GDNF):c.*1264C>T http://identifiers.org/clinvar/347955 ^@ NM_004453.3(ETFDH):c.12G>A (p.Pro4=) http://identifiers.org/clinvar/353505 ^@ NM_000514.3(GDNF):c.*1141C>A http://identifiers.org/clinvar/353515 ^@ NM_000514.3(GDNF):c.*363A>T http://identifiers.org/clinvar/351292 ^@ NM_005219.4(DIAPH1):c.1964C>A (p.Pro655His) http://identifiers.org/clinvar/353518 ^@ NM_000514.3(GDNF):c.*128_*133delAGAGGA http://identifiers.org/clinvar/351293 ^@ NM_005219.4(DIAPH1):c.1943A>G (p.Asp648Gly) http://identifiers.org/clinvar/351298 ^@ NM_005219.4(DIAPH1):c.1107G>A (p.Gly369=) http://identifiers.org/clinvar/353519 ^@ NM_000514.3(GDNF):c.*93A>T http://identifiers.org/clinvar/353522 ^@ NM_002310.5(LIFR):c.*6316C>T http://identifiers.org/clinvar/347998 ^@ NM_006017.2(PROM1):c.843C>T (p.His281=) http://identifiers.org/clinvar/348002 ^@ NM_006017.2(PROM1):c.718G>A (p.Gly240Arg) http://identifiers.org/clinvar/348007 ^@ NM_006017.2(PROM1):c.277-15C>T http://identifiers.org/clinvar/348009 ^@ NM_006017.2(PROM1):c.181A>G (p.Ile61Val) http://identifiers.org/clinvar/348031 ^@ NM_001166108.1(PALLD):c.502C>G (p.Leu168Val) http://identifiers.org/clinvar/348035 ^@ NM_001166108.1(PALLD):c.1219A>T (p.Thr407Ser) http://identifiers.org/clinvar/353525 ^@ NM_002310.5(LIFR):c.*6100G>A http://identifiers.org/clinvar/353526 ^@ NM_002310.5(LIFR):c.*6041_*6042insTTA http://identifiers.org/clinvar/351300 ^@ NM_005219.4(DIAPH1):c.882T>A (p.Arg294=) http://identifiers.org/clinvar/351303 ^@ NM_005219.4(DIAPH1):c.620+8C>G http://identifiers.org/clinvar/351307 ^@ NM_005219.4(DIAPH1):c.-22G>T http://identifiers.org/clinvar/347957 ^@ NM_004453.3(ETFDH):c.142A>G (p.Ile48Val) http://identifiers.org/clinvar/353540 ^@ NM_002310.5(LIFR):c.*5072dupA http://identifiers.org/clinvar/353543 ^@ NM_002310.5(LIFR):c.*4926_*4927delTT http://identifiers.org/clinvar/353542 ^@ NM_002310.5(LIFR):c.*4927delT http://identifiers.org/clinvar/347961 ^@ NM_004453.3(ETFDH):c.*135A>C http://identifiers.org/clinvar/347962 ^@ NM_006017.2(PROM1):c.*1160A>G http://identifiers.org/clinvar/353545 ^@ NM_002310.5(LIFR):c.*4804C>T http://identifiers.org/clinvar/353548 ^@ NM_002310.5(LIFR):c.*4438A>G http://identifiers.org/clinvar/347970 ^@ NM_006017.2(PROM1):c.*84delG http://identifiers.org/clinvar/347971 ^@ NM_006017.2(PROM1):c.2578A>G (p.Thr860Ala) http://identifiers.org/clinvar/347975 ^@ NM_006017.2(PROM1):c.2374-6dupT http://identifiers.org/clinvar/353558 ^@ NM_002310.5(LIFR):c.*3850T>G http://identifiers.org/clinvar/348043 ^@ NM_001166108.1(PALLD):c.2679A>G (p.Arg893=) http://identifiers.org/clinvar/353564 ^@ NM_002310.5(LIFR):c.*3302T>C http://identifiers.org/clinvar/348044 ^@ NM_001166108.1(PALLD):c.2891A>C (p.Asp964Ala) http://identifiers.org/clinvar/348049 ^@ NM_001166108.1(PALLD):c.*317A>T http://identifiers.org/clinvar/347977 ^@ NM_006017.2(PROM1):c.2364C>T (p.Ile788=) http://identifiers.org/clinvar/353566 ^@ NM_002310.5(LIFR):c.*2986_*2990delTATTT http://identifiers.org/clinvar/348051 ^@ NM_001166108.1(PALLD):c.*492A>G http://identifiers.org/clinvar/351312 ^@ NM_005219.4(DIAPH1):c.-85A>G http://identifiers.org/clinvar/353568 ^@ NM_002310.5(LIFR):c.*2712C>T http://identifiers.org/clinvar/351313 ^@ NM_001018077.1(NR3C1):c.*3937A>T http://identifiers.org/clinvar/351326 ^@ NM_001018077.1(NR3C1):c.*3003A>G http://identifiers.org/clinvar/347984 ^@ NM_006017.2(PROM1):c.1911+14G>A http://identifiers.org/clinvar/347990 ^@ NM_006017.2(PROM1):c.1576C>T (p.Arg526Trp) http://identifiers.org/clinvar/347993 ^@ NM_006017.2(PROM1):c.1344C>T (p.Ile448=) http://identifiers.org/clinvar/351334 ^@ NM_001018077.1(NR3C1):c.*2042C>T http://identifiers.org/clinvar/347994 ^@ NM_006017.2(PROM1):c.1279T>A (p.Leu427Met) http://identifiers.org/clinvar/351335 ^@ NM_001018077.1(NR3C1):c.*2031C>T http://identifiers.org/clinvar/353569 ^@ NM_002310.5(LIFR):c.*2697A>G http://identifiers.org/clinvar/353572 ^@ NM_002310.5(LIFR):c.*2464C>G http://identifiers.org/clinvar/351342 ^@ NM_001018077.1(NR3C1):c.*1220_*1225dupACTGAT http://identifiers.org/clinvar/353582 ^@ NM_002310.5(LIFR):c.*1540A>G http://identifiers.org/clinvar/351343 ^@ NM_001018077.1(NR3C1):c.*1176C>T http://identifiers.org/clinvar/347997 ^@ NM_006017.2(PROM1):c.963G>T (p.Leu321Phe) http://identifiers.org/clinvar/347999 ^@ NM_006017.2(PROM1):c.792G>A (p.Lys264=) http://identifiers.org/clinvar/351345 ^@ NM_001018077.1(NR3C1):c.*1055T>A http://identifiers.org/clinvar/348000 ^@ NM_006017.2(PROM1):c.785-11T>G http://identifiers.org/clinvar/348052 ^@ NM_001166108.1(PALLD):c.*829dupT http://identifiers.org/clinvar/348003 ^@ NM_006017.2(PROM1):c.717C>T (p.Gly239=) http://identifiers.org/clinvar/353583 ^@ NM_002310.5(LIFR):c.*1484A>G http://identifiers.org/clinvar/348053 ^@ NM_001166108.1(PALLD):c.*908A>G http://identifiers.org/clinvar/353585 ^@ NM_002310.5(LIFR):c.*1468T>G http://identifiers.org/clinvar/353586 ^@ NM_002310.5(LIFR):c.*1464dupT http://identifiers.org/clinvar/348059 ^@ NM_001166108.1(PALLD):c.*1164T>G http://identifiers.org/clinvar/348065 ^@ NM_001166108.1(PALLD):c.*1808C>T http://identifiers.org/clinvar/353591 ^@ NM_002310.5(LIFR):c.*1005A>G http://identifiers.org/clinvar/353592 ^@ NM_002310.5(LIFR):c.*988G>A http://identifiers.org/clinvar/348069 ^@ NM_001166108.1(PALLD):c.*2058C>G http://identifiers.org/clinvar/348070 ^@ NM_001166108.1(PALLD):c.*2070G>C http://identifiers.org/clinvar/348071 ^@ NM_001166108.1(PALLD):c.*2156dupA http://identifiers.org/clinvar/351349 ^@ NM_001018077.1(NR3C1):c.*834_*837dupAACT http://identifiers.org/clinvar/351361 ^@ NM_001018077.1(NR3C1):c.*101dupT http://identifiers.org/clinvar/351370 ^@ NM_001018077.1(NR3C1):c.897A>G (p.Thr299=) http://identifiers.org/clinvar/353600 ^@ NM_002310.5(LIFR):c.*393G>T http://identifiers.org/clinvar/351380 ^@ NM_002700.2(POU4F3):c.113C>A (p.Ala38Asp) http://identifiers.org/clinvar/348078 ^@ NM_001166108.1(PALLD):c.*2214C>T http://identifiers.org/clinvar/353602 ^@ NM_002310.5(LIFR):c.*362G>A http://identifiers.org/clinvar/348079 ^@ NM_012224.2(NEK1):c.*835A>G http://identifiers.org/clinvar/348086 ^@ NM_012224.2(NEK1):c.*156C>T http://identifiers.org/clinvar/348096 ^@ NM_012224.2(NEK1):c.3064C>T (p.Pro1022Ser) http://identifiers.org/clinvar/351393 ^@ NM_054027.4(ANKH):c.*6012T>C http://identifiers.org/clinvar/351396 ^@ NM_054027.4(ANKH):c.*5912T>A http://identifiers.org/clinvar/348004 ^@ NM_006017.2(PROM1):c.678G>A (p.Ala226=) http://identifiers.org/clinvar/348006 ^@ NM_006017.2(PROM1):c.556C>T (p.Arg186Trp) http://identifiers.org/clinvar/353609 ^@ NM_002310.5(LIFR):c.2852C>T (p.Pro951Leu) http://identifiers.org/clinvar/353611 ^@ NM_002310.5(LIFR):c.2750T>A (p.Phe917Tyr) http://identifiers.org/clinvar/353616 ^@ NM_002310.5(LIFR):c.2410A>G (p.Lys804Glu) http://identifiers.org/clinvar/353617 ^@ NM_002310.5(LIFR):c.2353G>A (p.Val785Ile) http://identifiers.org/clinvar/348108 ^@ NM_012224.2(NEK1):c.1792G>A (p.Ala598Thr) http://identifiers.org/clinvar/348113 ^@ NM_012224.2(NEK1):c.1500T>C (p.Ala500=) http://identifiers.org/clinvar/353619 ^@ NM_002310.5(LIFR):c.2262C>A (p.Gly754=) http://identifiers.org/clinvar/353621 ^@ NM_002310.5(LIFR):c.1972G>A (p.Val658Ile) http://identifiers.org/clinvar/348115 ^@ NM_012224.2(NEK1):c.1233T>C (p.Asn411=) http://identifiers.org/clinvar/348120 ^@ NM_012224.2(NEK1):c.686A>G (p.Tyr229Cys) http://identifiers.org/clinvar/351394 ^@ NM_054027.4(ANKH):c.*5912dupT http://identifiers.org/clinvar/353626 ^@ NM_002310.5(LIFR):c.1338A>G (p.Ser446=) http://identifiers.org/clinvar/351399 ^@ NM_054027.4(ANKH):c.*5895C>A http://identifiers.org/clinvar/353629 ^@ NM_002310.5(LIFR):c.935C>A (p.Thr312Lys) http://identifiers.org/clinvar/353632 ^@ NM_002310.5(LIFR):c.263G>A (p.Arg88His) http://identifiers.org/clinvar/348123 ^@ NM_012224.2(NEK1):c.607-3T>C http://identifiers.org/clinvar/351405 ^@ NM_054027.4(ANKH):c.*5459C>T http://identifiers.org/clinvar/351408 ^@ NM_054027.4(ANKH):c.*5034delA http://identifiers.org/clinvar/351409 ^@ NM_054027.4(ANKH):c.*4958T>C http://identifiers.org/clinvar/353648 ^@ NM_000436.3(OXCT1):c.*1072A>G http://identifiers.org/clinvar/353649 ^@ NM_000436.3(OXCT1):c.*1041G>A http://identifiers.org/clinvar/348008 ^@ NM_006017.2(PROM1):c.276+15G>T http://identifiers.org/clinvar/353650 ^@ NM_000436.3(OXCT1):c.*935A>G http://identifiers.org/clinvar/351414 ^@ NM_054027.4(ANKH):c.*4268C>A http://identifiers.org/clinvar/348133 ^@ NM_012224.2(NEK1):c.-606G>A http://identifiers.org/clinvar/348012 ^@ NM_006017.2(PROM1):c.-25T>A http://identifiers.org/clinvar/348014 ^@ NM_006017.2(PROM1):c.-127A>G http://identifiers.org/clinvar/353653 ^@ NM_000436.3(OXCT1):c.*157G>A http://identifiers.org/clinvar/348017 ^@ NM_001166108.1(PALLD):c.-179G>C http://identifiers.org/clinvar/348021 ^@ NM_001166108.1(PALLD):c.-143A>G http://identifiers.org/clinvar/348032 ^@ NM_001166108.1(PALLD):c.678C>T (p.Asp226=) http://identifiers.org/clinvar/351418 ^@ NM_054027.4(ANKH):c.*4219T>C http://identifiers.org/clinvar/348136 ^@ NM_012224.2(NEK1):c.-654C>T http://identifiers.org/clinvar/348169 ^@ NM_000860.5(HPGD):c.*1725_*1726delGCinsAT http://identifiers.org/clinvar/348170 ^@ NM_000860.5(HPGD):c.*1725G>A http://identifiers.org/clinvar/348173 ^@ NM_000860.5(HPGD):c.*1556C>T http://identifiers.org/clinvar/348174 ^@ NM_000860.5(HPGD):c.*1514A>G http://identifiers.org/clinvar/348180 ^@ NM_000860.5(HPGD):c.*1154T>C http://identifiers.org/clinvar/348182 ^@ NM_000860.5(HPGD):c.*968T>C http://identifiers.org/clinvar/348033 ^@ NM_001166108.1(PALLD):c.789C>T (p.Ser263=) http://identifiers.org/clinvar/348034 ^@ NM_001166108.1(PALLD):c.836G>C (p.Ser279Thr) http://identifiers.org/clinvar/348037 ^@ NM_001166108.1(PALLD):c.1347C>T (p.Asn449=) http://identifiers.org/clinvar/351426 ^@ NM_054027.4(ANKH):c.*3900T>C http://identifiers.org/clinvar/348042 ^@ NM_001166108.1(PALLD):c.1926C>G (p.Pro642=) http://identifiers.org/clinvar/353658 ^@ NM_000436.3(OXCT1):c.1339-12T>C http://identifiers.org/clinvar/353659 ^@ NM_000436.3(OXCT1):c.1099+2T>C http://identifiers.org/clinvar/348050 ^@ NM_001166108.1(PALLD):c.*336_*338dupATA http://identifiers.org/clinvar/353668 ^@ NM_000436.3(OXCT1):c.79-11dupT http://identifiers.org/clinvar/353674 ^@ NM_000436.3(OXCT1):c.-215A>G http://identifiers.org/clinvar/353675 ^@ NM_000436.3(OXCT1):c.-305G>A http://identifiers.org/clinvar/351428 ^@ NM_054027.4(ANKH):c.*3706G>A http://identifiers.org/clinvar/353676 ^@ NM_000163.4(GHR):c.-164A>G http://identifiers.org/clinvar/348188 ^@ NM_000860.5(HPGD):c.*630G>A http://identifiers.org/clinvar/348189 ^@ NM_000860.5(HPGD):c.*606_*609delTTGA http://identifiers.org/clinvar/351429 ^@ NM_054027.4(ANKH):c.*3698T>A http://identifiers.org/clinvar/353683 ^@ NM_000163.4(GHR):c.876-15T>G http://identifiers.org/clinvar/351436 ^@ NM_054027.4(ANKH):c.*3420T>C http://identifiers.org/clinvar/348191 ^@ NM_000860.5(HPGD):c.*418G>T http://identifiers.org/clinvar/353689 ^@ NM_000163.4(GHR):c.1832C>T (p.Ala611Val) http://identifiers.org/clinvar/353691 ^@ NM_000163.4(GHR):c.*36A>T http://identifiers.org/clinvar/353697 ^@ NM_000163.4(GHR):c.*670T>C http://identifiers.org/clinvar/353708 ^@ NM_000163.4(GHR):c.*1554G>A http://identifiers.org/clinvar/348057 ^@ NM_001166108.1(PALLD):c.*1131T>G http://identifiers.org/clinvar/348058 ^@ NM_001166108.1(PALLD):c.*1132T>C http://identifiers.org/clinvar/348061 ^@ NM_001166108.1(PALLD):c.*1757T>G http://identifiers.org/clinvar/348192 ^@ NM_000860.5(HPGD):c.*248A>G http://identifiers.org/clinvar/351439 ^@ NM_054027.4(ANKH):c.*2974G>A http://identifiers.org/clinvar/348064 ^@ NM_001166108.1(PALLD):c.*1792T>A http://identifiers.org/clinvar/353710 ^@ NM_000163.4(GHR):c.*1770G>C http://identifiers.org/clinvar/348194 ^@ NM_000860.5(HPGD):c.*157A>G http://identifiers.org/clinvar/348068 ^@ NM_001166108.1(PALLD):c.*2022A>G http://identifiers.org/clinvar/353711 ^@ NM_000163.4(GHR):c.*1790G>A http://identifiers.org/clinvar/348073 ^@ NM_001166108.1(PALLD):c.*2155_*2156delAA http://identifiers.org/clinvar/348075 ^@ NM_001166108.1(PALLD):c.*2166A>G http://identifiers.org/clinvar/351453 ^@ NM_054027.4(ANKH):c.*2236G>A http://identifiers.org/clinvar/353715 ^@ NM_000163.4(GHR):c.*1934T>C http://identifiers.org/clinvar/351454 ^@ NM_054027.4(ANKH):c.*2200T>C http://identifiers.org/clinvar/351461 ^@ NM_054027.4(ANKH):c.*1814G>A http://identifiers.org/clinvar/351463 ^@ NM_054027.4(ANKH):c.*1668A>C http://identifiers.org/clinvar/351467 ^@ NM_054027.4(ANKH):c.*1322_*1325delATTT http://identifiers.org/clinvar/351470 ^@ NM_054027.4(ANKH):c.*1211delA http://identifiers.org/clinvar/353718 ^@ NM_000163.4(GHR):c.*2169C>T http://identifiers.org/clinvar/353720 ^@ NM_000163.4(GHR):c.*2294A>G http://identifiers.org/clinvar/353722 ^@ NM_004465.1(FGF10):c.591C>T (p.Thr197=) http://identifiers.org/clinvar/353723 ^@ NM_004465.1(FGF10):c.430-15G>C http://identifiers.org/clinvar/351471 ^@ NM_054027.4(ANKH):c.*1081C>T http://identifiers.org/clinvar/351473 ^@ NM_054027.4(ANKH):c.*1008C>G http://identifiers.org/clinvar/351476 ^@ NM_054027.4(ANKH):c.*921A>G http://identifiers.org/clinvar/348076 ^@ NM_001166108.1(PALLD):c.*2168C>A http://identifiers.org/clinvar/348199 ^@ NM_000860.5(HPGD):c.773C>A (p.Thr258Lys) http://identifiers.org/clinvar/348203 ^@ NM_000860.5(HPGD):c.421G>A (p.Gly141Arg) http://identifiers.org/clinvar/348204 ^@ NM_000860.5(HPGD):c.156G>A (p.Gln52=) http://identifiers.org/clinvar/353724 ^@ NM_004465.1(FGF10):c.426C>T (p.Gly142=) http://identifiers.org/clinvar/353728 ^@ NM_002203.3(ITGA2):c.-124G>A http://identifiers.org/clinvar/351478 ^@ NM_054027.4(ANKH):c.*840G>C http://identifiers.org/clinvar/351479 ^@ NM_054027.4(ANKH):c.*831T>C http://identifiers.org/clinvar/348080 ^@ NM_012224.2(NEK1):c.*806G>A http://identifiers.org/clinvar/353730 ^@ NM_002203.3(ITGA2):c.-13G>A http://identifiers.org/clinvar/353731 ^@ NM_002203.3(ITGA2):c.11A>G (p.Glu4Gly) http://identifiers.org/clinvar/353747 ^@ NM_002203.3(ITGA2):c.993A>G (p.Ala331=) http://identifiers.org/clinvar/351484 ^@ NM_054027.4(ANKH):c.*706C>T http://identifiers.org/clinvar/351486 ^@ NM_054027.4(ANKH):c.*643T>C http://identifiers.org/clinvar/353748 ^@ NM_002203.3(ITGA2):c.1096+11dupT http://identifiers.org/clinvar/353751 ^@ NM_002203.3(ITGA2):c.1312+12T>C http://identifiers.org/clinvar/351487 ^@ NM_054027.4(ANKH):c.*580C>T http://identifiers.org/clinvar/351488 ^@ NM_054027.4(ANKH):c.*561C>T http://identifiers.org/clinvar/351493 ^@ NM_054027.4(ANKH):c.*349A>G http://identifiers.org/clinvar/348087 ^@ NM_012224.2(NEK1):c.*154G>A http://identifiers.org/clinvar/351498 ^@ NM_054027.4(ANKH):c.1453G>A (p.Val485Met) http://identifiers.org/clinvar/353755 ^@ NM_002203.3(ITGA2):c.1602+3A>G http://identifiers.org/clinvar/351505 ^@ NM_054027.4(ANKH):c.1071C>T (p.Ile357=) http://identifiers.org/clinvar/348205 ^@ NM_000860.5(HPGD):c.78G>A (p.Leu26=) http://identifiers.org/clinvar/353758 ^@ NM_002203.3(ITGA2):c.1807-6T>C http://identifiers.org/clinvar/353764 ^@ NM_002203.3(ITGA2):c.2377G>A (p.Gly793Arg) http://identifiers.org/clinvar/348089 ^@ NM_012224.2(NEK1):c.3540T>C (p.Asp1180=) http://identifiers.org/clinvar/348091 ^@ NM_012224.2(NEK1):c.3499+8A>C http://identifiers.org/clinvar/348092 ^@ NM_012224.2(NEK1):c.3483C>T (p.Asn1161=) http://identifiers.org/clinvar/351506 ^@ NM_054027.4(ANKH):c.1012-11T>G http://identifiers.org/clinvar/348095 ^@ NM_012224.2(NEK1):c.3138+7A>G http://identifiers.org/clinvar/353766 ^@ NM_002203.3(ITGA2):c.2434C>A (p.Gln812Lys) http://identifiers.org/clinvar/351529 ^@ NM_054027.4(ANKH):c.688-14G>A http://identifiers.org/clinvar/353768 ^@ NM_002203.3(ITGA2):c.2484G>A (p.Thr828=) http://identifiers.org/clinvar/351554 ^@ NM_054027.4(ANKH):c.432+13G>A http://identifiers.org/clinvar/351555 ^@ NM_054027.4(ANKH):c.405C>T (p.Leu135=) http://identifiers.org/clinvar/351516 ^@ NM_006846.3(SPINK5):c.606A>C (p.Leu202Phe) http://identifiers.org/clinvar/351519 ^@ NM_006846.3(SPINK5):c.802C>T (p.Arg268Cys) http://identifiers.org/clinvar/348137 ^@ NM_000320.2(QDPR):c.*690A>G http://identifiers.org/clinvar/353771 ^@ NM_002203.3(ITGA2):c.2674A>C (p.Thr892Pro) http://identifiers.org/clinvar/353773 ^@ NM_002203.3(ITGA2):c.2718G>A (p.Ala906=) http://identifiers.org/clinvar/348151 ^@ NM_000320.2(QDPR):c.*220T>C http://identifiers.org/clinvar/348214 ^@ NM_000027.3(AGA):c.*868C>G http://identifiers.org/clinvar/348215 ^@ NM_000027.3(AGA):c.*852C>T http://identifiers.org/clinvar/351524 ^@ NM_006846.3(SPINK5):c.1605G>A (p.Val535=) http://identifiers.org/clinvar/348216 ^@ NM_000027.3(AGA):c.*850C>T http://identifiers.org/clinvar/348105 ^@ NM_012224.2(NEK1):c.2210A>G (p.Glu737Gly) http://identifiers.org/clinvar/353781 ^@ NM_002203.3(ITGA2):c.3379A>C (p.Lys1127Gln) http://identifiers.org/clinvar/348107 ^@ NM_012224.2(NEK1):c.2171A>G (p.Glu724Gly) http://identifiers.org/clinvar/351526 ^@ NM_006846.3(SPINK5):c.1607+7G>T http://identifiers.org/clinvar/353782 ^@ NM_002203.3(ITGA2):c.3518T>C (p.Ile1173Thr) http://identifiers.org/clinvar/353785 ^@ NM_002203.3(ITGA2):c.*60G>A http://identifiers.org/clinvar/348218 ^@ NM_000027.3(AGA):c.*752G>C http://identifiers.org/clinvar/353796 ^@ NM_002203.3(ITGA2):c.*721A>C http://identifiers.org/clinvar/348219 ^@ NM_000027.3(AGA):c.*718G>A http://identifiers.org/clinvar/348221 ^@ NM_000027.3(AGA):c.*317T>C http://identifiers.org/clinvar/348223 ^@ NM_000027.3(AGA):c.*207T>C http://identifiers.org/clinvar/348109 ^@ NM_012224.2(NEK1):c.1763A>G (p.His588Arg) http://identifiers.org/clinvar/353800 ^@ NM_002203.3(ITGA2):c.*894C>T http://identifiers.org/clinvar/348111 ^@ NM_012224.2(NEK1):c.1663A>G (p.Met555Val) http://identifiers.org/clinvar/348118 ^@ NM_012224.2(NEK1):c.901T>C (p.Ser301Pro) http://identifiers.org/clinvar/348119 ^@ NM_012224.2(NEK1):c.896C>T (p.Ser299Leu) http://identifiers.org/clinvar/353807 ^@ NM_002203.3(ITGA2):c.*1671G>C http://identifiers.org/clinvar/351527 ^@ NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) http://identifiers.org/clinvar/348228 ^@ NM_000027.3(AGA):c.1023A>G (p.Glu341=) http://identifiers.org/clinvar/353812 ^@ NM_002203.3(ITGA2):c.*1921G>T http://identifiers.org/clinvar/348230 ^@ NM_000027.3(AGA):c.794G>A (p.Arg265His) http://identifiers.org/clinvar/348241 ^@ NM_001151.3(SLC25A4):c.-108C>T http://identifiers.org/clinvar/351533 ^@ NM_006846.3(SPINK5):c.2360T>C (p.Ile787Thr) http://identifiers.org/clinvar/353813 ^@ NM_002203.3(ITGA2):c.*1947T>C http://identifiers.org/clinvar/351535 ^@ NM_006846.3(SPINK5):c.2736A>G (p.Ala912=) http://identifiers.org/clinvar/348246 ^@ NM_001151.3(SLC25A4):c.732G>C (p.Arg244=) http://identifiers.org/clinvar/348126 ^@ NM_012224.2(NEK1):c.397-15delT http://identifiers.org/clinvar/353820 ^@ NM_002203.3(ITGA2):c.*2268dupT http://identifiers.org/clinvar/348128 ^@ NM_012224.2(NEK1):c.-367T>C http://identifiers.org/clinvar/348131 ^@ NM_012224.2(NEK1):c.-577G>C http://identifiers.org/clinvar/348176 ^@ NM_000860.5(HPGD):c.*1478C>T http://identifiers.org/clinvar/348177 ^@ NM_000860.5(HPGD):c.*1400T>G http://identifiers.org/clinvar/348178 ^@ NM_000860.5(HPGD):c.*1246G>A http://identifiers.org/clinvar/353825 ^@ NM_002203.3(ITGA2):c.*2521A>C http://identifiers.org/clinvar/351925 ^@ NM_054027.4(ANKH):c.39G>C (p.Leu13=) http://identifiers.org/clinvar/348181 ^@ NM_000860.5(HPGD):c.*1131C>T http://identifiers.org/clinvar/353827 ^@ NM_002203.3(ITGA2):c.*2570C>A http://identifiers.org/clinvar/353828 ^@ NM_002203.3(ITGA2):c.*2570C>T http://identifiers.org/clinvar/353829 ^@ NM_002203.3(ITGA2):c.*2574C>G http://identifiers.org/clinvar/348184 ^@ NM_000860.5(HPGD):c.*914A>G http://identifiers.org/clinvar/348186 ^@ NM_000860.5(HPGD):c.*749A>G http://identifiers.org/clinvar/348196 ^@ NM_000860.5(HPGD):c.*95C>G http://identifiers.org/clinvar/353832 ^@ NM_002203.3(ITGA2):c.*2674G>C http://identifiers.org/clinvar/353837 ^@ NM_002203.3(ITGA2):c.*2921G>A http://identifiers.org/clinvar/348248 ^@ NM_001151.3(SLC25A4):c.793G>A (p.Glu265Lys) http://identifiers.org/clinvar/348251 ^@ NM_001151.3(SLC25A4):c.*326_*328delTTA http://identifiers.org/clinvar/348253 ^@ NM_001151.3(SLC25A4):c.*481G>T http://identifiers.org/clinvar/353839 ^@ NM_002203.3(ITGA2):c.*2940G>A http://identifiers.org/clinvar/351588 ^@ NM_024577.3(SH3TC2):c.*20412A>T http://identifiers.org/clinvar/351589 ^@ NM_024577.3(SH3TC2):c.*20362T>C http://identifiers.org/clinvar/353841 ^@ NM_002203.3(ITGA2):c.*3026A>G http://identifiers.org/clinvar/353844 ^@ NM_002203.3(ITGA2):c.*3113G>C http://identifiers.org/clinvar/353846 ^@ NM_002203.3(ITGA2):c.*3164G>A http://identifiers.org/clinvar/351592 ^@ NM_024577.3(SH3TC2):c.*19989G>A http://identifiers.org/clinvar/351598 ^@ NM_024577.3(SH3TC2):c.*19411T>C http://identifiers.org/clinvar/351608 ^@ NM_024577.3(SH3TC2):c.*18606T>G http://identifiers.org/clinvar/348254 ^@ NM_001151.3(SLC25A4):c.*500_*503dupATCT http://identifiers.org/clinvar/348260 ^@ NM_001151.3(SLC25A4):c.*957T>C http://identifiers.org/clinvar/351610 ^@ NM_024577.3(SH3TC2):c.*18483dupT http://identifiers.org/clinvar/353847 ^@ NM_002203.3(ITGA2):c.*3237A>C http://identifiers.org/clinvar/351614 ^@ NM_024577.3(SH3TC2):c.*17903A>G http://identifiers.org/clinvar/348261 ^@ NM_001151.3(SLC25A4):c.*1020_*1023delAAAA http://identifiers.org/clinvar/351619 ^@ NM_024577.3(SH3TC2):c.*17192C>T http://identifiers.org/clinvar/348201 ^@ NM_000860.5(HPGD):c.520A>C (p.Ser174Arg) http://identifiers.org/clinvar/348141 ^@ NM_000320.2(QDPR):c.*510C>T http://identifiers.org/clinvar/348275 ^@ NM_001151.3(SLC25A4):c.*2476G>A http://identifiers.org/clinvar/351620 ^@ NM_024577.3(SH3TC2):c.*17036C>T http://identifiers.org/clinvar/348147 ^@ NM_000320.2(QDPR):c.*278G>A http://identifiers.org/clinvar/353854 ^@ NM_002203.3(ITGA2):c.*3594_*3597delAACAinsTTTATAAACAACTTTGTAGGACT http://identifiers.org/clinvar/353861 ^@ NM_002203.3(ITGA2):c.*3986A>C http://identifiers.org/clinvar/353862 ^@ NM_002203.3(ITGA2):c.*3996G>T http://identifiers.org/clinvar/348277 ^@ NM_001151.3(SLC25A4):c.*2592C>T http://identifiers.org/clinvar/351622 ^@ NM_024577.3(SH3TC2):c.*16950T>C http://identifiers.org/clinvar/348149 ^@ NM_000320.2(QDPR):c.*221G>A http://identifiers.org/clinvar/348281 ^@ NM_001151.3(SLC25A4):c.*2824G>C http://identifiers.org/clinvar/348282 ^@ NM_001151.3(SLC25A4):c.*2943G>A http://identifiers.org/clinvar/353866 ^@ NM_002203.3(ITGA2):c.*4042G>A http://identifiers.org/clinvar/348154 ^@ NM_000320.2(QDPR):c.588G>C (p.Glu196Asp) http://identifiers.org/clinvar/353868 ^@ NM_002203.3(ITGA2):c.*4098C>G http://identifiers.org/clinvar/353877 ^@ NM_176806.3(MOCS2):c.*181C>T http://identifiers.org/clinvar/353880 ^@ NM_176806.3(MOCS2):c.*19-8_*19-5delATTT http://identifiers.org/clinvar/348155 ^@ NM_000320.2(QDPR):c.516G>C (p.Pro172=) http://identifiers.org/clinvar/348160 ^@ NM_000320.2(QDPR):c.255C>T (p.Cys85=) http://identifiers.org/clinvar/351630 ^@ NM_024577.3(SH3TC2):c.*16898_*16901delCACA http://identifiers.org/clinvar/353885 ^@ NM_176806.3(MOCS2):c.7C>T (p.Pro3Ser) http://identifiers.org/clinvar/348163 ^@ NM_000320.2(QDPR):c.-47C>G http://identifiers.org/clinvar/348287 ^@ NM_207352.3(CYP4V2):c.-302G>A http://identifiers.org/clinvar/351632 ^@ NM_024577.3(SH3TC2):c.*16784C>T http://identifiers.org/clinvar/353890 ^@ NM_002495.3(NDUFS4):c.351-11_351-8delGTTT http://identifiers.org/clinvar/353898 ^@ NM_006308.2(HSPB3):c.199G>A (p.Gly67Ser) http://identifiers.org/clinvar/348166 ^@ NM_000320.2(QDPR):c.-81C>T http://identifiers.org/clinvar/348217 ^@ NM_000027.3(AGA):c.*823_*824delCT http://identifiers.org/clinvar/351633 ^@ NM_024577.3(SH3TC2):c.*16711C>G http://identifiers.org/clinvar/351634 ^@ NM_024577.3(SH3TC2):c.*16631G>A http://identifiers.org/clinvar/348229 ^@ NM_000027.3(AGA):c.806+13_806+16delAGTT http://identifiers.org/clinvar/348291 ^@ NM_207352.3(CYP4V2):c.-152A>G http://identifiers.org/clinvar/351635 ^@ NM_024577.3(SH3TC2):c.*16562G>T http://identifiers.org/clinvar/351638 ^@ NM_024577.3(SH3TC2):c.*16378C>A http://identifiers.org/clinvar/353903 ^@ NM_006308.2(HSPB3):c.369T>C (p.Gly123=) http://identifiers.org/clinvar/351645 ^@ NM_024577.3(SH3TC2):c.*15823T>C http://identifiers.org/clinvar/348231 ^@ NM_000027.3(AGA):c.699-7C>T http://identifiers.org/clinvar/351646 ^@ NM_024577.3(SH3TC2):c.*15823T>A http://identifiers.org/clinvar/351657 ^@ NM_024577.3(SH3TC2):c.*14894G>A http://identifiers.org/clinvar/353907 ^@ NM_001104631.1(PDE4D):c.*5413G>C http://identifiers.org/clinvar/351659 ^@ NM_024577.3(SH3TC2):c.*14827T>A http://identifiers.org/clinvar/353910 ^@ NM_001104631.1(PDE4D):c.*5260T>C http://identifiers.org/clinvar/351660 ^@ NM_024577.3(SH3TC2):c.*14781C>A http://identifiers.org/clinvar/348235 ^@ NM_000027.3(AGA):c.571G>C (p.Asp191His) http://identifiers.org/clinvar/348237 ^@ NM_000027.3(AGA):c.92T>C (p.Val31Ala) http://identifiers.org/clinvar/348238 ^@ NM_000027.3(AGA):c.60A>G (p.Leu20=) http://identifiers.org/clinvar/348239 ^@ NM_000027.3(AGA):c.-94G>A http://identifiers.org/clinvar/348292 ^@ NM_207352.3(CYP4V2):c.-146C>T http://identifiers.org/clinvar/353913 ^@ NM_001104631.1(PDE4D):c.*5125C>T http://identifiers.org/clinvar/348300 ^@ NM_207352.3(CYP4V2):c.311A>G (p.Asn104Ser) http://identifiers.org/clinvar/351669 ^@ NM_024577.3(SH3TC2):c.*13514A>G http://identifiers.org/clinvar/353917 ^@ NM_001104631.1(PDE4D):c.*4915C>T http://identifiers.org/clinvar/351677 ^@ NM_024577.3(SH3TC2):c.*12653C>A http://identifiers.org/clinvar/351678 ^@ NM_024577.3(SH3TC2):c.*12637A>G http://identifiers.org/clinvar/351682 ^@ NM_024577.3(SH3TC2):c.*12126C>T http://identifiers.org/clinvar/353931 ^@ NM_001104631.1(PDE4D):c.*3562T>C http://identifiers.org/clinvar/353932 ^@ NM_001104631.1(PDE4D):c.*3349T>A http://identifiers.org/clinvar/348240 ^@ NM_000027.3(AGA):c.-126_-122delGGACG http://identifiers.org/clinvar/353933 ^@ NM_001104631.1(PDE4D):c.*3214T>A http://identifiers.org/clinvar/353938 ^@ NM_001104631.1(PDE4D):c.*2747G>A http://identifiers.org/clinvar/353948 ^@ NM_001104631.1(PDE4D):c.*2242_*2243delAT http://identifiers.org/clinvar/348302 ^@ NM_207352.3(CYP4V2):c.555A>T (p.Ala185=) http://identifiers.org/clinvar/348304 ^@ NM_207352.3(CYP4V2):c.638G>A (p.Ser213Asn) http://identifiers.org/clinvar/348305 ^@ NM_207352.3(CYP4V2):c.661C>T (p.Arg221Cys) http://identifiers.org/clinvar/348307 ^@ NM_207352.3(CYP4V2):c.736C>G (p.Leu246Val) http://identifiers.org/clinvar/353950 ^@ NM_001104631.1(PDE4D):c.*2100C>T http://identifiers.org/clinvar/353952 ^@ NM_001104631.1(PDE4D):c.*2004C>A http://identifiers.org/clinvar/348244 ^@ NM_001151.3(SLC25A4):c.-46G>A http://identifiers.org/clinvar/348255 ^@ NM_001151.3(SLC25A4):c.*497T>G http://identifiers.org/clinvar/348258 ^@ NM_001151.3(SLC25A4):c.*824C>T http://identifiers.org/clinvar/351683 ^@ NM_024577.3(SH3TC2):c.*12114dupA http://identifiers.org/clinvar/353957 ^@ NM_001104631.1(PDE4D):c.*1773A>G http://identifiers.org/clinvar/353961 ^@ NM_001104631.1(PDE4D):c.*1459_*1463dupGTTAA http://identifiers.org/clinvar/348317 ^@ NM_207352.3(CYP4V2):c.*210dupT http://identifiers.org/clinvar/348328 ^@ NM_207352.3(CYP4V2):c.*1023_*1026delTACA http://identifiers.org/clinvar/348336 ^@ NM_207352.3(CYP4V2):c.*1054_*1055insTA http://identifiers.org/clinvar/348339 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACACACACAC http://identifiers.org/clinvar/348340 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACACACACACACAC http://identifiers.org/clinvar/348342 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACACACACACACACACACACATACAC http://identifiers.org/clinvar/348266 ^@ NM_001151.3(SLC25A4):c.*1378A>G http://identifiers.org/clinvar/353968 ^@ NM_001104631.1(PDE4D):c.*1251A>G http://identifiers.org/clinvar/348269 ^@ NM_001151.3(SLC25A4):c.*2037delC http://identifiers.org/clinvar/348271 ^@ NM_001151.3(SLC25A4):c.*2307T>C http://identifiers.org/clinvar/351686 ^@ NM_024577.3(SH3TC2):c.*12109_*12110dupAA http://identifiers.org/clinvar/348274 ^@ NM_001151.3(SLC25A4):c.*2466C>A http://identifiers.org/clinvar/351690 ^@ NM_024577.3(SH3TC2):c.*11621G>A http://identifiers.org/clinvar/351693 ^@ NM_024577.3(SH3TC2):c.*11506C>T http://identifiers.org/clinvar/353970 ^@ NM_001104631.1(PDE4D):c.*1200T>A http://identifiers.org/clinvar/351696 ^@ NM_024577.3(SH3TC2):c.*11120G>A http://identifiers.org/clinvar/348346 ^@ NM_207352.3(CYP4V2):c.*1061_*1064dupCACA http://identifiers.org/clinvar/348349 ^@ NM_207352.3(CYP4V2):c.*1148A>G http://identifiers.org/clinvar/353971 ^@ NM_001104631.1(PDE4D):c.*1034C>T http://identifiers.org/clinvar/348354 ^@ NM_207352.3(CYP4V2):c.*1638G>A http://identifiers.org/clinvar/353973 ^@ NM_001104631.1(PDE4D):c.*872_*875dupCTTT http://identifiers.org/clinvar/348283 ^@ NM_001151.3(SLC25A4):c.*3070C>T http://identifiers.org/clinvar/348286 ^@ NM_001151.3(SLC25A4):c.*3277G>A http://identifiers.org/clinvar/348289 ^@ NM_207352.3(CYP4V2):c.-199C>T http://identifiers.org/clinvar/348290 ^@ NM_207352.3(CYP4V2):c.-178C>T http://identifiers.org/clinvar/348296 ^@ NM_207352.3(CYP4V2):c.24C>T (p.Leu8=) http://identifiers.org/clinvar/348355 ^@ NM_207352.3(CYP4V2):c.*1737A>G http://identifiers.org/clinvar/353976 ^@ NM_001104631.1(PDE4D):c.*797_*800dupGTTT http://identifiers.org/clinvar/348299 ^@ NM_207352.3(CYP4V2):c.302C>T (p.Ala101Val) http://identifiers.org/clinvar/353978 ^@ NM_001104631.1(PDE4D):c.*649T>G http://identifiers.org/clinvar/353990 ^@ NM_001104631.1(PDE4D):c.1542G>C (p.Leu514=) http://identifiers.org/clinvar/351708 ^@ NM_024577.3(SH3TC2):c.*10546C>T http://identifiers.org/clinvar/348303 ^@ NM_207352.3(CYP4V2):c.626T>C (p.Ile209Thr) http://identifiers.org/clinvar/348309 ^@ NM_207352.3(CYP4V2):c.1091-4T>A http://identifiers.org/clinvar/351713 ^@ NM_024577.3(SH3TC2):c.*10120C>A http://identifiers.org/clinvar/353998 ^@ NM_001104631.1(PDE4D):c.456-12C>T http://identifiers.org/clinvar/354003 ^@ NM_000082.3(ERCC8):c.*763A>C http://identifiers.org/clinvar/348361 ^@ NM_207352.3(CYP4V2):c.*2106G>T http://identifiers.org/clinvar/351716 ^@ NM_024577.3(SH3TC2):c.*10107_*10110delACCA http://identifiers.org/clinvar/351717 ^@ NM_024577.3(SH3TC2):c.*10103_*10110delACCAACCA http://identifiers.org/clinvar/351719 ^@ NM_024577.3(SH3TC2):c.*10103A>T http://identifiers.org/clinvar/351721 ^@ NM_024577.3(SH3TC2):c.*10099A>T http://identifiers.org/clinvar/348316 ^@ NM_207352.3(CYP4V2):c.*175A>G http://identifiers.org/clinvar/348319 ^@ NM_207352.3(CYP4V2):c.*364T>G http://identifiers.org/clinvar/351727 ^@ NM_024577.3(SH3TC2):c.*10018A>T http://identifiers.org/clinvar/354004 ^@ NM_000082.3(ERCC8):c.*725T>G http://identifiers.org/clinvar/351732 ^@ NM_024577.3(SH3TC2):c.*9980_*9981insTATT http://identifiers.org/clinvar/348322 ^@ NM_207352.3(CYP4V2):c.*659A>G http://identifiers.org/clinvar/351743 ^@ NM_024577.3(SH3TC2):c.*9121delT http://identifiers.org/clinvar/351744 ^@ NM_024577.3(SH3TC2):c.*9073G>C http://identifiers.org/clinvar/348325 ^@ NM_207352.3(CYP4V2):c.*741C>T http://identifiers.org/clinvar/354007 ^@ NM_000082.3(ERCC8):c.*462T>A http://identifiers.org/clinvar/351746 ^@ NM_024577.3(SH3TC2):c.*8756G>T http://identifiers.org/clinvar/354010 ^@ NM_000082.3(ERCC8):c.*237T>C http://identifiers.org/clinvar/348366 ^@ NM_207352.3(CYP4V2):c.*2748A>G http://identifiers.org/clinvar/348370 ^@ NM_000128.3(F11):c.-183T>C http://identifiers.org/clinvar/354013 ^@ NM_000082.3(ERCC8):c.1105G>C (p.Val369Leu) http://identifiers.org/clinvar/354014 ^@ NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) http://identifiers.org/clinvar/348372 ^@ NM_000128.3(F11):c.219-11T>A http://identifiers.org/clinvar/348378 ^@ NM_000128.3(F11):c.1325delT (p.Leu442Cysfs) http://identifiers.org/clinvar/351759 ^@ NM_024577.3(SH3TC2):c.*8217A>G http://identifiers.org/clinvar/354019 ^@ NM_000082.3(ERCC8):c.409G>A (p.Val137Ile) http://identifiers.org/clinvar/351766 ^@ NM_024577.3(SH3TC2):c.*7452G>A http://identifiers.org/clinvar/348326 ^@ NM_207352.3(CYP4V2):c.*829C>T http://identifiers.org/clinvar/354022 ^@ NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) http://identifiers.org/clinvar/354023 ^@ NM_000082.3(ERCC8):c.66G>A (p.Glu22=) http://identifiers.org/clinvar/354024 ^@ NM_000082.3(ERCC8):c.-23T>G http://identifiers.org/clinvar/351773 ^@ NM_024577.3(SH3TC2):c.*7256A>C http://identifiers.org/clinvar/351782 ^@ NM_024577.3(SH3TC2):c.*6692A>G http://identifiers.org/clinvar/351789 ^@ NM_024577.3(SH3TC2):c.*6436G>T http://identifiers.org/clinvar/351790 ^@ NM_024577.3(SH3TC2):c.*6392C>A http://identifiers.org/clinvar/348380 ^@ NM_000128.3(F11):c.1707C>T (p.Asp569=) http://identifiers.org/clinvar/351797 ^@ NM_024577.3(SH3TC2):c.*6051G>A http://identifiers.org/clinvar/348386 ^@ NM_000128.3(F11):c.*576G>A http://identifiers.org/clinvar/351799 ^@ NM_024577.3(SH3TC2):c.*5999G>A http://identifiers.org/clinvar/348327 ^@ NM_207352.3(CYP4V2):c.*888G>A http://identifiers.org/clinvar/348329 ^@ NM_207352.3(CYP4V2):c.*1023_*1024delTA http://identifiers.org/clinvar/351804 ^@ NM_024577.3(SH3TC2):c.*5689A>C http://identifiers.org/clinvar/354027 ^@ NM_174889.4(NDUFAF2):c.-97A>G http://identifiers.org/clinvar/351806 ^@ NM_024577.3(SH3TC2):c.*5634C>A http://identifiers.org/clinvar/354029 ^@ NM_174889.4(NDUFAF2):c.-66G>C http://identifiers.org/clinvar/348394 ^@ NM_000128.3(F11):c.*928G>A http://identifiers.org/clinvar/354031 ^@ NM_174889.4(NDUFAF2):c.-21_-20dupGC http://identifiers.org/clinvar/351812 ^@ NM_024577.3(SH3TC2):c.*5304G>A http://identifiers.org/clinvar/354033 ^@ NM_174889.4(NDUFAF2):c.98A>G (p.Tyr33Cys) http://identifiers.org/clinvar/354041 ^@ NM_017755.5(NSUN2):c.*294C>G http://identifiers.org/clinvar/351813 ^@ NM_024577.3(SH3TC2):c.*5279delG http://identifiers.org/clinvar/354043 ^@ NM_017755.5(NSUN2):c.*99G>A http://identifiers.org/clinvar/354045 ^@ NM_017755.5(NSUN2):c.*48C>T http://identifiers.org/clinvar/348334 ^@ NM_207352.3(CYP4V2):c.*1056_*1057insCACACATACA http://identifiers.org/clinvar/348347 ^@ NM_207352.3(CYP4V2):c.*1057T>C http://identifiers.org/clinvar/351816 ^@ NM_024577.3(SH3TC2):c.*4920T>G http://identifiers.org/clinvar/351819 ^@ NM_024577.3(SH3TC2):c.*4691C>T http://identifiers.org/clinvar/351824 ^@ NM_024577.3(SH3TC2):c.*4409T>A http://identifiers.org/clinvar/351826 ^@ NM_024577.3(SH3TC2):c.*4279C>G http://identifiers.org/clinvar/348338 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACACACAC http://identifiers.org/clinvar/348341 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACACACACACACACACACAC http://identifiers.org/clinvar/351827 ^@ NM_024577.3(SH3TC2):c.*4240C>A http://identifiers.org/clinvar/354055 ^@ NM_017755.5(NSUN2):c.1602-14G>C http://identifiers.org/clinvar/351835 ^@ NM_024577.3(SH3TC2):c.*3694T>A http://identifiers.org/clinvar/354058 ^@ NM_017755.5(NSUN2):c.997G>A (p.Ala333Thr) http://identifiers.org/clinvar/354061 ^@ NM_017755.5(NSUN2):c.258C>T (p.His86=) http://identifiers.org/clinvar/354062 ^@ NM_017755.5(NSUN2):c.138G>A (p.Lys46=) http://identifiers.org/clinvar/348344 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACACATACAC http://identifiers.org/clinvar/348345 ^@ NM_207352.3(CYP4V2):c.*1057delTinsCACATACAC http://identifiers.org/clinvar/351837 ^@ NM_024577.3(SH3TC2):c.*3411C>T http://identifiers.org/clinvar/354069 ^@ NM_017755.5(NSUN2):c.-189C>A http://identifiers.org/clinvar/348353 ^@ NM_207352.3(CYP4V2):c.*1417T>A http://identifiers.org/clinvar/351845 ^@ NM_024577.3(SH3TC2):c.*3058A>G http://identifiers.org/clinvar/348398 ^@ NM_133330.2(NSD2):c.-458C>T http://identifiers.org/clinvar/348401 ^@ NM_133330.2(NSD2):c.-390T>A http://identifiers.org/clinvar/351847 ^@ NM_024577.3(SH3TC2):c.*2982T>C http://identifiers.org/clinvar/351848 ^@ NM_024577.3(SH3TC2):c.*2956C>T http://identifiers.org/clinvar/348404 ^@ NM_133330.2(NSD2):c.-379A>G http://identifiers.org/clinvar/348408 ^@ NM_133330.2(NSD2):c.-207G>A http://identifiers.org/clinvar/351849 ^@ NM_024577.3(SH3TC2):c.*2900G>T http://identifiers.org/clinvar/354075 ^@ NM_017755.5(NSUN2):c.-340C>T http://identifiers.org/clinvar/351857 ^@ NM_024577.3(SH3TC2):c.*2341A>G http://identifiers.org/clinvar/351866 ^@ NM_024577.3(SH3TC2):c.*1909G>T http://identifiers.org/clinvar/354082 ^@ NM_001038603.2(MARVELD2):c.491G>C (p.Arg164Pro) http://identifiers.org/clinvar/354084 ^@ NM_001038603.2(MARVELD2):c.662G>C (p.Trp221Ser) http://identifiers.org/clinvar/354092 ^@ NM_001038603.2(MARVELD2):c.1248A>C (p.Thr416=) http://identifiers.org/clinvar/348409 ^@ NM_133330.2(NSD2):c.-185G>A http://identifiers.org/clinvar/348410 ^@ NM_133330.2(NSD2):c.-166C>A http://identifiers.org/clinvar/348364 ^@ NM_207352.3(CYP4V2):c.*2399C>T http://identifiers.org/clinvar/354097 ^@ NM_001038603.2(MARVELD2):c.*171G>A http://identifiers.org/clinvar/354102 ^@ NM_022132.4(MCCC2):c.675C>A (p.Ala225=) http://identifiers.org/clinvar/348413 ^@ NM_133330.2(NSD2):c.-62T>C http://identifiers.org/clinvar/348415 ^@ NM_133330.2(NSD2):c.-44C>T http://identifiers.org/clinvar/351867 ^@ NM_024577.3(SH3TC2):c.*1750C>T http://identifiers.org/clinvar/351868 ^@ NM_024577.3(SH3TC2):c.*1639T>C http://identifiers.org/clinvar/351870 ^@ NM_024577.3(SH3TC2):c.*1309C>T http://identifiers.org/clinvar/348368 ^@ NM_000128.3(F11):c.-316C>G http://identifiers.org/clinvar/354108 ^@ NM_022132.4(MCCC2):c.*368T>C http://identifiers.org/clinvar/348369 ^@ NM_000128.3(F11):c.-300C>T http://identifiers.org/clinvar/348421 ^@ NM_133330.2(NSD2):c.216C>G (p.Pro72=) http://identifiers.org/clinvar/348423 ^@ NM_133330.2(NSD2):c.381A>G (p.Lys127=) http://identifiers.org/clinvar/351871 ^@ NM_024577.3(SH3TC2):c.*1254T>C http://identifiers.org/clinvar/354113 ^@ NM_022132.4(MCCC2):c.*659C>T http://identifiers.org/clinvar/348425 ^@ NM_133330.2(NSD2):c.546C>A (p.Gly182=) http://identifiers.org/clinvar/351872 ^@ NM_024577.3(SH3TC2):c.*1006C>T http://identifiers.org/clinvar/351877 ^@ NM_024577.3(SH3TC2):c.*862delG http://identifiers.org/clinvar/348426 ^@ NM_133330.2(NSD2):c.562C>G (p.Leu188Val) http://identifiers.org/clinvar/348371 ^@ NM_000128.3(F11):c.-54G>A http://identifiers.org/clinvar/348379 ^@ NM_000128.3(F11):c.1431C>T (p.Ser477=) http://identifiers.org/clinvar/354117 ^@ NM_022132.4(MCCC2):c.*819G>A http://identifiers.org/clinvar/354119 ^@ NM_022132.4(MCCC2):c.*856C>T http://identifiers.org/clinvar/351879 ^@ NM_024577.3(SH3TC2):c.*839delC http://identifiers.org/clinvar/351883 ^@ NM_024577.3(SH3TC2):c.*626G>A http://identifiers.org/clinvar/351884 ^@ NM_024577.3(SH3TC2):c.*623T>C http://identifiers.org/clinvar/348441 ^@ NM_133330.2(NSD2):c.2814G>A (p.Pro938=) http://identifiers.org/clinvar/354120 ^@ NM_022132.4(MCCC2):c.*878T>G http://identifiers.org/clinvar/348442 ^@ NM_133330.2(NSD2):c.2831G>A (p.Arg944Gln) http://identifiers.org/clinvar/351889 ^@ NM_024577.3(SH3TC2):c.*210C>A http://identifiers.org/clinvar/348449 ^@ NM_133330.2(NSD2):c.4023C>T (p.Pro1341=) http://identifiers.org/clinvar/348453 ^@ NM_133330.2(NSD2):c.*148C>T http://identifiers.org/clinvar/354121 ^@ NM_022132.4(MCCC2):c.*940C>G http://identifiers.org/clinvar/348457 ^@ NM_133330.2(NSD2):c.*296A>G http://identifiers.org/clinvar/351890 ^@ NM_024577.3(SH3TC2):c.*147A>T http://identifiers.org/clinvar/348464 ^@ NM_133330.2(NSD2):c.*674A>G http://identifiers.org/clinvar/348475 ^@ NM_133330.2(NSD2):c.*1458G>C http://identifiers.org/clinvar/351891 ^@ NM_024577.3(SH3TC2):c.*122G>T http://identifiers.org/clinvar/354122 ^@ NM_022132.4(MCCC2):c.*1080G>T http://identifiers.org/clinvar/351895 ^@ NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) http://identifiers.org/clinvar/348476 ^@ NM_133330.2(NSD2):c.*1468G>C http://identifiers.org/clinvar/348381 ^@ NM_000128.3(F11):c.*262A>G http://identifiers.org/clinvar/348385 ^@ NM_000128.3(F11):c.*479A>T http://identifiers.org/clinvar/348485 ^@ NM_133330.2(NSD2):c.*1922dupT http://identifiers.org/clinvar/348489 ^@ NM_133330.2(NSD2):c.*2019C>T http://identifiers.org/clinvar/348395 ^@ NM_000128.3(F11):c.*952G>A http://identifiers.org/clinvar/348396 ^@ NM_000128.3(F11):c.*977_*979delATT http://identifiers.org/clinvar/354128 ^@ NM_000521.3(HEXB):c.-52C>A http://identifiers.org/clinvar/348403 ^@ NM_133330.2(NSD2):c.-384-3C>T http://identifiers.org/clinvar/354133 ^@ NM_000521.3(HEXB):c.918G>C (p.Leu306=) http://identifiers.org/clinvar/351901 ^@ NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) http://identifiers.org/clinvar/354134 ^@ NM_000521.3(HEXB):c.1035A>C (p.Pro345=) http://identifiers.org/clinvar/354138 ^@ NM_000521.3(HEXB):c.1613+14delT http://identifiers.org/clinvar/348493 ^@ NM_133330.2(NSD2):c.*2337A>C http://identifiers.org/clinvar/348504 ^@ NM_133330.2(NSD2):c.*2847T>G http://identifiers.org/clinvar/354140 ^@ NM_000521.3(HEXB):c.*82_*83delGT http://identifiers.org/clinvar/348405 ^@ NM_133330.2(NSD2):c.-348A>T http://identifiers.org/clinvar/348406 ^@ NM_133330.2(NSD2):c.-280T>G http://identifiers.org/clinvar/348407 ^@ NM_133330.2(NSD2):c.-218T>G http://identifiers.org/clinvar/348505 ^@ NM_133330.2(NSD2):c.*2917C>G http://identifiers.org/clinvar/348417 ^@ NM_133330.2(NSD2):c.11G>A (p.Ser4Asn) http://identifiers.org/clinvar/348422 ^@ NM_133330.2(NSD2):c.228C>T (p.Ala76=) http://identifiers.org/clinvar/348513 ^@ NM_016955.3(SEPSECS):c.*3775A>G http://identifiers.org/clinvar/351909 ^@ NM_024577.3(SH3TC2):c.1889C>T (p.Pro630Leu) http://identifiers.org/clinvar/351915 ^@ NM_024577.3(SH3TC2):c.1105C>T (p.Arg369Cys) http://identifiers.org/clinvar/348427 ^@ NM_133330.2(NSD2):c.576C>T (p.Ile192=) http://identifiers.org/clinvar/354148 ^@ NM_003719.3(PDE8B):c.280A>G (p.Arg94Gly) http://identifiers.org/clinvar/354174 ^@ NM_003719.3(PDE8B):c.2545G>A (p.Asp849Asn) http://identifiers.org/clinvar/348521 ^@ NM_016955.3(SEPSECS):c.*2708G>A http://identifiers.org/clinvar/348524 ^@ NM_016955.3(SEPSECS):c.*2300A>G http://identifiers.org/clinvar/354175 ^@ NM_003719.3(PDE8B):c.2622A>G (p.Leu874=) http://identifiers.org/clinvar/354177 ^@ NM_003719.3(PDE8B):c.*57C>T http://identifiers.org/clinvar/348429 ^@ NM_133330.2(NSD2):c.927+15T>C http://identifiers.org/clinvar/348430 ^@ NM_133330.2(NSD2):c.940A>G (p.Ile314Val) http://identifiers.org/clinvar/348435 ^@ NM_133330.2(NSD2):c.1653G>A (p.Thr551=) http://identifiers.org/clinvar/348436 ^@ NM_133330.2(NSD2):c.1675-10T>A http://identifiers.org/clinvar/354188 ^@ NM_003719.3(PDE8B):c.*480T>G http://identifiers.org/clinvar/354195 ^@ NM_003719.3(PDE8B):c.*694_*696delCAA http://identifiers.org/clinvar/348437 ^@ NM_133330.2(NSD2):c.1881+9A>T http://identifiers.org/clinvar/351919 ^@ NM_024577.3(SH3TC2):c.529+7G>A http://identifiers.org/clinvar/354197 ^@ NM_003719.3(PDE8B):c.*831T>C http://identifiers.org/clinvar/354210 ^@ NM_003719.3(PDE8B):c.*1590T>A http://identifiers.org/clinvar/348525 ^@ NM_016955.3(SEPSECS):c.*2250A>G http://identifiers.org/clinvar/348529 ^@ NM_016955.3(SEPSECS):c.*1727G>A http://identifiers.org/clinvar/351936 ^@ NM_000440.2(PDE6A):c.*2889C>G http://identifiers.org/clinvar/354216 ^@ NM_003664.4(AP3B1):c.*141T>C http://identifiers.org/clinvar/351942 ^@ NM_000440.2(PDE6A):c.*2626C>G http://identifiers.org/clinvar/351946 ^@ NM_000440.2(PDE6A):c.*2229C>T http://identifiers.org/clinvar/354221 ^@ NM_003664.4(AP3B1):c.3131+5G>T http://identifiers.org/clinvar/354226 ^@ NM_003664.4(AP3B1):c.2762A>G (p.Glu921Gly) http://identifiers.org/clinvar/348438 ^@ NM_133330.2(NSD2):c.1902C>T (p.Asp634=) http://identifiers.org/clinvar/351947 ^@ NM_000440.2(PDE6A):c.*2194G>A http://identifiers.org/clinvar/351948 ^@ NM_000440.2(PDE6A):c.*2110A>G http://identifiers.org/clinvar/351957 ^@ NM_000440.2(PDE6A):c.*1720T>A http://identifiers.org/clinvar/348440 ^@ NM_133330.2(NSD2):c.2414T>C (p.Val805Ala) http://identifiers.org/clinvar/351970 ^@ NM_000440.2(PDE6A):c.*796A>G http://identifiers.org/clinvar/354230 ^@ NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) http://identifiers.org/clinvar/351979 ^@ NM_000440.2(PDE6A):c.2568C>T (p.Ser856=) http://identifiers.org/clinvar/348534 ^@ NM_016955.3(SEPSECS):c.*1574T>C http://identifiers.org/clinvar/354234 ^@ NM_003664.4(AP3B1):c.1984C>G (p.Pro662Ala) http://identifiers.org/clinvar/348535 ^@ NM_016955.3(SEPSECS):c.*1041T>C http://identifiers.org/clinvar/348536 ^@ NM_016955.3(SEPSECS):c.*807A>G http://identifiers.org/clinvar/351982 ^@ NM_000440.2(PDE6A):c.2135+15G>C http://identifiers.org/clinvar/354235 ^@ NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) http://identifiers.org/clinvar/351992 ^@ NM_000440.2(PDE6A):c.918G>A (p.Arg306=) http://identifiers.org/clinvar/348539 ^@ NM_016955.3(SEPSECS):c.*612G>T http://identifiers.org/clinvar/351995 ^@ NM_000440.2(PDE6A):c.758C>T (p.Thr253Met) http://identifiers.org/clinvar/348542 ^@ NM_016955.3(SEPSECS):c.*455C>T http://identifiers.org/clinvar/354239 ^@ NM_003664.4(AP3B1):c.1364-11A>G http://identifiers.org/clinvar/348544 ^@ NM_016955.3(SEPSECS):c.*420G>C http://identifiers.org/clinvar/354244 ^@ NM_003664.4(AP3B1):c.976A>G (p.Ile326Val) http://identifiers.org/clinvar/348444 ^@ NM_133330.2(NSD2):c.3474C>T (p.Asp1158=) http://identifiers.org/clinvar/354252 ^@ NM_003664.4(AP3B1):c.303C>T (p.Tyr101=) http://identifiers.org/clinvar/352000 ^@ NM_000440.2(PDE6A):c.481C>G (p.His161Asp) http://identifiers.org/clinvar/354339 ^@ NM_002454.2(MTRR):c.-135A>C http://identifiers.org/clinvar/354344 ^@ NM_002454.2(MTRR):c.210C>G (p.Arg70=) http://identifiers.org/clinvar/348450 ^@ NM_133330.2(NSD2):c.4026C>G (p.Pro1342=) http://identifiers.org/clinvar/348452 ^@ NM_133330.2(NSD2):c.*118G>A http://identifiers.org/clinvar/354345 ^@ NM_002454.2(MTRR):c.283+13C>G http://identifiers.org/clinvar/354346 ^@ NM_002454.2(MTRR):c.346C>A (p.Gln116Lys) http://identifiers.org/clinvar/348455 ^@ NM_133330.2(NSD2):c.*176C>T http://identifiers.org/clinvar/348545 ^@ NM_016955.3(SEPSECS):c.*371_*372delAA http://identifiers.org/clinvar/352001 ^@ NM_000440.2(PDE6A):c.397G>A (p.Val133Ile) http://identifiers.org/clinvar/352005 ^@ NM_000440.2(PDE6A):c.299G>A (p.Arg100Gln) http://identifiers.org/clinvar/354349 ^@ NM_002454.2(MTRR):c.383A>G (p.His128Arg) http://identifiers.org/clinvar/354256 ^@ NM_000046.3(ARSB):c.*3181T>G http://identifiers.org/clinvar/352007 ^@ NM_000440.2(PDE6A):c.159C>A (p.Ser53Arg) http://identifiers.org/clinvar/352016 ^@ NM_000112.3(SLC26A2):c.-206T>A http://identifiers.org/clinvar/348459 ^@ NM_133330.2(NSD2):c.*524G>A http://identifiers.org/clinvar/354258 ^@ NM_000046.3(ARSB):c.*3174T>G http://identifiers.org/clinvar/348467 ^@ NM_133330.2(NSD2):c.*870A>C http://identifiers.org/clinvar/354261 ^@ NM_000046.3(ARSB):c.*3047T>C http://identifiers.org/clinvar/354264 ^@ NM_000046.3(ARSB):c.*2708G>A http://identifiers.org/clinvar/354265 ^@ NM_000046.3(ARSB):c.*2707C>T http://identifiers.org/clinvar/348473 ^@ NM_133330.2(NSD2):c.*1297A>G http://identifiers.org/clinvar/348477 ^@ NM_133330.2(NSD2):c.*1572A>G http://identifiers.org/clinvar/348480 ^@ NM_133330.2(NSD2):c.*1757C>T http://identifiers.org/clinvar/348550 ^@ NM_016955.3(SEPSECS):c.*236_*237insTTT http://identifiers.org/clinvar/348481 ^@ NM_133330.2(NSD2):c.*1777C>T http://identifiers.org/clinvar/354266 ^@ NM_000046.3(ARSB):c.*2672A>G http://identifiers.org/clinvar/354272 ^@ NM_000046.3(ARSB):c.*2243A>G http://identifiers.org/clinvar/348482 ^@ NM_133330.2(NSD2):c.*1844T>C http://identifiers.org/clinvar/348490 ^@ NM_133330.2(NSD2):c.*2020G>A http://identifiers.org/clinvar/354274 ^@ NM_000046.3(ARSB):c.*2022T>G http://identifiers.org/clinvar/354278 ^@ NM_000046.3(ARSB):c.*1729delT http://identifiers.org/clinvar/348497 ^@ NM_133330.2(NSD2):c.*2521A>G http://identifiers.org/clinvar/354279 ^@ NM_000046.3(ARSB):c.*1610G>A http://identifiers.org/clinvar/354281 ^@ NM_000046.3(ARSB):c.*1513C>T http://identifiers.org/clinvar/348551 ^@ NM_016955.3(SEPSECS):c.*112T>C http://identifiers.org/clinvar/352033 ^@ NM_000112.3(SLC26A2):c.*53C>G http://identifiers.org/clinvar/352036 ^@ NM_000112.3(SLC26A2):c.*264C>G http://identifiers.org/clinvar/348498 ^@ NM_133330.2(NSD2):c.*2603A>T http://identifiers.org/clinvar/354283 ^@ NM_000046.3(ARSB):c.*1469C>T http://identifiers.org/clinvar/348553 ^@ NM_016955.3(SEPSECS):c.1120+12T>C http://identifiers.org/clinvar/352037 ^@ NM_000112.3(SLC26A2):c.*300C>T http://identifiers.org/clinvar/352040 ^@ NM_000112.3(SLC26A2):c.*453G>A http://identifiers.org/clinvar/352042 ^@ NM_000112.3(SLC26A2):c.*600G>T http://identifiers.org/clinvar/354284 ^@ NM_000046.3(ARSB):c.*1387C>T http://identifiers.org/clinvar/354285 ^@ NM_000046.3(ARSB):c.*1372dupT http://identifiers.org/clinvar/352048 ^@ NM_000112.3(SLC26A2):c.*1221dupA http://identifiers.org/clinvar/352053 ^@ NM_000112.3(SLC26A2):c.*1631C>T http://identifiers.org/clinvar/352061 ^@ NM_000112.3(SLC26A2):c.*2357T>C http://identifiers.org/clinvar/348502 ^@ NM_133330.2(NSD2):c.*2811C>T http://identifiers.org/clinvar/354287 ^@ NM_000046.3(ARSB):c.*1302G>T http://identifiers.org/clinvar/348560 ^@ NM_003023.4(SH3BP2):c.-241A>C http://identifiers.org/clinvar/352062 ^@ NM_000112.3(SLC26A2):c.*2443A>G http://identifiers.org/clinvar/348503 ^@ NM_133330.2(NSD2):c.*2812G>A http://identifiers.org/clinvar/354289 ^@ NM_000046.3(ARSB):c.*1276C>G http://identifiers.org/clinvar/354291 ^@ NM_000046.3(ARSB):c.*1169T>C http://identifiers.org/clinvar/348508 ^@ NM_133330.2(NSD2):c.*3186T>C http://identifiers.org/clinvar/354294 ^@ NM_000046.3(ARSB):c.*810C>T http://identifiers.org/clinvar/354350 ^@ NM_002454.2(MTRR):c.423G>A (p.Pro141=) http://identifiers.org/clinvar/354297 ^@ NM_000046.3(ARSB):c.*619G>T http://identifiers.org/clinvar/352071 ^@ NM_000112.3(SLC26A2):c.*3165G>A http://identifiers.org/clinvar/352080 ^@ NM_000112.3(SLC26A2):c.*3693_*3695delCAG http://identifiers.org/clinvar/352081 ^@ NM_000112.3(SLC26A2):c.*4064dupA http://identifiers.org/clinvar/352082 ^@ NM_000112.3(SLC26A2):c.*4224A>G http://identifiers.org/clinvar/352083 ^@ NM_000112.3(SLC26A2):c.*4333G>A http://identifiers.org/clinvar/348509 ^@ NM_133330.2(NSD2):c.*3199G>T http://identifiers.org/clinvar/354303 ^@ NM_000046.3(ARSB):c.1533C>T (p.Pro511=) http://identifiers.org/clinvar/348561 ^@ NM_003023.4(SH3BP2):c.-99C>T http://identifiers.org/clinvar/354305 ^@ NM_000046.3(ARSB):c.1453C>G (p.His485Asp) http://identifiers.org/clinvar/354306 ^@ NM_000046.3(ARSB):c.1446A>G (p.Glu482=) http://identifiers.org/clinvar/352086 ^@ NM_000112.3(SLC26A2):c.*4469dupT http://identifiers.org/clinvar/354309 ^@ NM_000046.3(ARSB):c.1231G>A (p.Ala411Thr) http://identifiers.org/clinvar/348564 ^@ NM_003023.4(SH3BP2):c.81G>T (p.Val27=) http://identifiers.org/clinvar/348566 ^@ NM_003023.4(SH3BP2):c.171C>T (p.Cys57=) http://identifiers.org/clinvar/348567 ^@ NM_003023.4(SH3BP2):c.213C>T (p.Gly71=) http://identifiers.org/clinvar/348574 ^@ NM_003023.4(SH3BP2):c.464C>T (p.Ala155Val) http://identifiers.org/clinvar/348580 ^@ NM_003023.4(SH3BP2):c.585G>A (p.Glu195=) http://identifiers.org/clinvar/348512 ^@ NM_016955.3(SEPSECS):c.*3848C>T http://identifiers.org/clinvar/352089 ^@ NM_000112.3(SLC26A2):c.*4586C>T http://identifiers.org/clinvar/352090 ^@ NM_000112.3(SLC26A2):c.*4612G>A http://identifiers.org/clinvar/348583 ^@ NM_003023.4(SH3BP2):c.1123G>A (p.Gly375Arg) http://identifiers.org/clinvar/348586 ^@ NM_003023.4(SH3BP2):c.1151G>A (p.Arg384Gln) http://identifiers.org/clinvar/348523 ^@ NM_016955.3(SEPSECS):c.*2645A>G http://identifiers.org/clinvar/354359 ^@ NM_002454.2(MTRR):c.997C>G (p.Leu333Val) http://identifiers.org/clinvar/348526 ^@ NM_016955.3(SEPSECS):c.*2209A>G http://identifiers.org/clinvar/352097 ^@ NM_000112.3(SLC26A2):c.*5387T>G http://identifiers.org/clinvar/354322 ^@ NM_000046.3(ARSB):c.-301G>A http://identifiers.org/clinvar/352109 ^@ NM_005211.3(CSF1R):c.*405G>C http://identifiers.org/clinvar/348588 ^@ NM_003023.4(SH3BP2):c.1299A>G (p.Gln433=) http://identifiers.org/clinvar/348590 ^@ NM_003023.4(SH3BP2):c.1367C>T (p.Ser456Leu) http://identifiers.org/clinvar/348532 ^@ NM_016955.3(SEPSECS):c.*1620C>T http://identifiers.org/clinvar/354333 ^@ NM_000046.3(ARSB):c.-850dupT http://identifiers.org/clinvar/348541 ^@ NM_016955.3(SEPSECS):c.*470T>G http://identifiers.org/clinvar/348543 ^@ NM_016955.3(SEPSECS):c.*454C>T http://identifiers.org/clinvar/348592 ^@ NM_003023.4(SH3BP2):c.1429C>T (p.Arg477Trp) http://identifiers.org/clinvar/354338 ^@ NM_000046.3(ARSB):c.-1178A>G http://identifiers.org/clinvar/354364 ^@ NM_002454.2(MTRR):c.2021T>C (p.Val674Ala) http://identifiers.org/clinvar/348594 ^@ NM_003023.4(SH3BP2):c.1549-12C>A http://identifiers.org/clinvar/348595 ^@ NM_003023.4(SH3BP2):c.*42C>T http://identifiers.org/clinvar/348596 ^@ NM_003023.4(SH3BP2):c.*88T>C http://identifiers.org/clinvar/354365 ^@ NM_002454.2(MTRR):c.*64T>C http://identifiers.org/clinvar/352110 ^@ NM_005211.3(CSF1R):c.*310C>A http://identifiers.org/clinvar/348546 ^@ NM_016955.3(SEPSECS):c.*354C>T http://identifiers.org/clinvar/354370 ^@ NM_002454.2(MTRR):c.*541G>A http://identifiers.org/clinvar/354379 ^@ NM_002454.2(MTRR):c.*907T>C http://identifiers.org/clinvar/352125 ^@ NM_005211.3(CSF1R):c.2799T>C (p.Gly933=) http://identifiers.org/clinvar/354381 ^@ NM_002454.2(MTRR):c.*1059T>C http://identifiers.org/clinvar/352126 ^@ NM_005211.3(CSF1R):c.2796C>T (p.Ser932=) http://identifiers.org/clinvar/352127 ^@ NM_005211.3(CSF1R):c.2762G>C (p.Arg921Pro) http://identifiers.org/clinvar/352130 ^@ NM_005211.3(CSF1R):c.2709C>T (p.Phe903=) http://identifiers.org/clinvar/354384 ^@ NM_004385.4(VCAN):c.-135G>A http://identifiers.org/clinvar/354385 ^@ NM_004385.4(VCAN):c.-119A>C http://identifiers.org/clinvar/352133 ^@ NM_005211.3(CSF1R):c.2508C>T (p.Ser836=) http://identifiers.org/clinvar/348547 ^@ NM_016955.3(SEPSECS):c.*271G>A http://identifiers.org/clinvar/352137 ^@ NM_005211.3(CSF1R):c.2217G>T (p.Glu739Asp) http://identifiers.org/clinvar/354387 ^@ NM_004385.4(VCAN):c.-75A>G http://identifiers.org/clinvar/354390 ^@ NM_004385.4(VCAN):c.426G>A (p.Thr142=) http://identifiers.org/clinvar/352138 ^@ NM_005211.3(CSF1R):c.2166C>T (p.Thr722=) http://identifiers.org/clinvar/352139 ^@ NM_005211.3(CSF1R):c.2165C>A (p.Thr722Asn) http://identifiers.org/clinvar/352140 ^@ NM_005211.3(CSF1R):c.2132+8delC http://identifiers.org/clinvar/352141 ^@ NM_005211.3(CSF1R):c.2132+5C>T http://identifiers.org/clinvar/352147 ^@ NM_005211.3(CSF1R):c.1626+7C>T http://identifiers.org/clinvar/348548 ^@ NM_016955.3(SEPSECS):c.*254_*257delTTAA http://identifiers.org/clinvar/348604 ^@ NM_003023.4(SH3BP2):c.*634C>A http://identifiers.org/clinvar/352151 ^@ NM_005211.3(CSF1R):c.1404G>A (p.Val468=) http://identifiers.org/clinvar/352153 ^@ NM_005211.3(CSF1R):c.1306G>A (p.Gly436Ser) http://identifiers.org/clinvar/354394 ^@ NM_004385.4(VCAN):c.930G>A (p.Val310=) http://identifiers.org/clinvar/354397 ^@ NM_004385.4(VCAN):c.1192G>A (p.Val398Met) http://identifiers.org/clinvar/352161 ^@ NM_005211.3(CSF1R):c.802G>A (p.Val268Ile) http://identifiers.org/clinvar/354398 ^@ NM_004385.4(VCAN):c.1523T>A (p.Ile508Asn) http://identifiers.org/clinvar/348549 ^@ NM_016955.3(SEPSECS):c.*253A>G http://identifiers.org/clinvar/352164 ^@ NM_005211.3(CSF1R):c.733G>A (p.Ala245Thr) http://identifiers.org/clinvar/348552 ^@ NM_016955.3(SEPSECS):c.1276A>G (p.Thr426Ala) http://identifiers.org/clinvar/348609 ^@ NM_003023.4(SH3BP2):c.*830G>A http://identifiers.org/clinvar/348556 ^@ NM_016955.3(SEPSECS):c.-140dupT http://identifiers.org/clinvar/354401 ^@ NM_004385.4(VCAN):c.1931C>T (p.Pro644Leu) http://identifiers.org/clinvar/354408 ^@ NM_004385.4(VCAN):c.2875A>T (p.Ser959Cys) http://identifiers.org/clinvar/348558 ^@ NM_016955.3(SEPSECS):c.-160C>T http://identifiers.org/clinvar/348562 ^@ NM_003023.4(SH3BP2):c.-51C>T http://identifiers.org/clinvar/352173 ^@ NM_005211.3(CSF1R):c.268C>A (p.Pro90Thr) http://identifiers.org/clinvar/354409 ^@ NM_004385.4(VCAN):c.2937C>T (p.Pro979=) http://identifiers.org/clinvar/354411 ^@ NM_004385.4(VCAN):c.3067A>G (p.Thr1023Ala) http://identifiers.org/clinvar/352175 ^@ NM_005211.3(CSF1R):c.224C>T (p.Thr75Ile) http://identifiers.org/clinvar/352185 ^@ NM_005211.3(CSF1R):c.-199G>A http://identifiers.org/clinvar/352186 ^@ NM_005211.3(CSF1R):c.-212_-207delGAAGAG http://identifiers.org/clinvar/348616 ^@ NM_003023.4(SH3BP2):c.*1489G>A http://identifiers.org/clinvar/354420 ^@ NM_004385.4(VCAN):c.3956A>G (p.His1319Arg) http://identifiers.org/clinvar/354421 ^@ NM_004385.4(VCAN):c.4236T>C (p.Asn1412=) http://identifiers.org/clinvar/354422 ^@ NM_004385.4(VCAN):c.4248C>T (p.Leu1416=) http://identifiers.org/clinvar/354425 ^@ NM_004385.4(VCAN):c.5202G>A (p.Thr1734=) http://identifiers.org/clinvar/348619 ^@ NM_003023.4(SH3BP2):c.*1656T>C http://identifiers.org/clinvar/348620 ^@ NM_003023.4(SH3BP2):c.*1679C>T http://identifiers.org/clinvar/352195 ^@ NM_001135243.1(TCOF1):c.534C>T (p.Ser178=) http://identifiers.org/clinvar/354427 ^@ NM_004385.4(VCAN):c.5482C>T (p.Pro1828Ser) http://identifiers.org/clinvar/352206 ^@ NM_001135243.1(TCOF1):c.1506A>G (p.Lys502=) http://identifiers.org/clinvar/354428 ^@ NM_004385.4(VCAN):c.5526C>T (p.Ala1842=) http://identifiers.org/clinvar/348563 ^@ NM_003023.4(SH3BP2):c.79G>A (p.Val27Met) http://identifiers.org/clinvar/348622 ^@ NM_003023.4(SH3BP2):c.*1811G>A http://identifiers.org/clinvar/348565 ^@ NM_003023.4(SH3BP2):c.97C>T (p.Leu33=) http://identifiers.org/clinvar/348578 ^@ NM_003023.4(SH3BP2):c.518-15C>G http://identifiers.org/clinvar/348625 ^@ NM_003023.4(SH3BP2):c.*1935C>T http://identifiers.org/clinvar/348581 ^@ NM_003023.4(SH3BP2):c.656A>T (p.Asp219Val) http://identifiers.org/clinvar/354430 ^@ NM_004385.4(VCAN):c.5801T>G (p.Phe1934Cys) http://identifiers.org/clinvar/354437 ^@ NM_004385.4(VCAN):c.7030C>T (p.Pro2344Ser) http://identifiers.org/clinvar/348635 ^@ NM_003023.4(SH3BP2):c.*2485T>C http://identifiers.org/clinvar/348643 ^@ NM_003023.4(SH3BP2):c.*2912C>T http://identifiers.org/clinvar/352214 ^@ NM_001135243.1(TCOF1):c.1789G>A (p.Val597Ile) http://identifiers.org/clinvar/348582 ^@ NM_003023.4(SH3BP2):c.937G>A (p.Gly313Arg) http://identifiers.org/clinvar/348652 ^@ NM_003023.4(SH3BP2):c.*3175C>T http://identifiers.org/clinvar/348584 ^@ NM_003023.4(SH3BP2):c.1141G>A (p.Val381Met) http://identifiers.org/clinvar/348589 ^@ NM_003023.4(SH3BP2):c.1351-13C>T http://identifiers.org/clinvar/354438 ^@ NM_004385.4(VCAN):c.7035G>A (p.Thr2345=) http://identifiers.org/clinvar/354441 ^@ NM_004385.4(VCAN):c.7480G>C (p.Glu2494Gln) http://identifiers.org/clinvar/348591 ^@ NM_003023.4(SH3BP2):c.1407-11T>A http://identifiers.org/clinvar/348593 ^@ NM_003023.4(SH3BP2):c.1514C>G (p.Ser505Cys) http://identifiers.org/clinvar/348600 ^@ NM_003023.4(SH3BP2):c.*305C>T http://identifiers.org/clinvar/354449 ^@ NM_004385.4(VCAN):c.7884C>A (p.Asn2628Lys) http://identifiers.org/clinvar/348601 ^@ NM_003023.4(SH3BP2):c.*372G>A http://identifiers.org/clinvar/348603 ^@ NM_003023.4(SH3BP2):c.*618G>A http://identifiers.org/clinvar/348615 ^@ NM_003023.4(SH3BP2):c.*1420C>T http://identifiers.org/clinvar/352215 ^@ NM_001135243.1(TCOF1):c.1820A>G (p.Asn607Ser) http://identifiers.org/clinvar/354452 ^@ NM_004385.4(VCAN):c.8058A>C (p.Leu2686Phe) http://identifiers.org/clinvar/354454 ^@ NM_004385.4(VCAN):c.8064C>T (p.Pro2688=) http://identifiers.org/clinvar/352216 ^@ NM_001135243.1(TCOF1):c.2143-5C>T http://identifiers.org/clinvar/352217 ^@ NM_001135243.1(TCOF1):c.2716T>A (p.Ser906Thr) http://identifiers.org/clinvar/352218 ^@ NM_001135243.1(TCOF1):c.2766G>A (p.Ser922=) http://identifiers.org/clinvar/348627 ^@ NM_003023.4(SH3BP2):c.*2012G>A http://identifiers.org/clinvar/354460 ^@ NM_004385.4(VCAN):c.8683G>C (p.Asp2895His) http://identifiers.org/clinvar/354461 ^@ NM_004385.4(VCAN):c.9025G>A (p.Glu3009Lys) http://identifiers.org/clinvar/352225 ^@ NM_001135243.1(TCOF1):c.3245A>G (p.Gln1082Arg) http://identifiers.org/clinvar/352226 ^@ NM_001135243.1(TCOF1):c.3285G>A (p.Gln1095=) http://identifiers.org/clinvar/354463 ^@ NM_004385.4(VCAN):c.9275G>C (p.Arg3092Pro) http://identifiers.org/clinvar/352227 ^@ NM_001135243.1(TCOF1):c.3426C>T (p.Ser1142=) http://identifiers.org/clinvar/348656 ^@ NM_003023.4(SH3BP2):c.*3309C>T http://identifiers.org/clinvar/352232 ^@ NM_001135243.1(TCOF1):c.3709G>A (p.Ala1237Thr) http://identifiers.org/clinvar/354465 ^@ NM_004385.4(VCAN):c.9380-4T>A http://identifiers.org/clinvar/354472 ^@ NM_004385.4(VCAN):c.*218G>A http://identifiers.org/clinvar/352240 ^@ NM_001135243.1(TCOF1):c.*141T>G http://identifiers.org/clinvar/348628 ^@ NM_003023.4(SH3BP2):c.*2163A>T http://identifiers.org/clinvar/354475 ^@ NM_004385.4(VCAN):c.*707G>A http://identifiers.org/clinvar/354483 ^@ NM_004385.4(VCAN):c.*905_*912delAAAAGAAA http://identifiers.org/clinvar/354488 ^@ NM_004385.4(VCAN):c.*1031T>C http://identifiers.org/clinvar/354489 ^@ NM_004385.4(VCAN):c.*1091C>T http://identifiers.org/clinvar/354496 ^@ NM_004385.4(VCAN):c.*1603T>C http://identifiers.org/clinvar/348657 ^@ NM_003023.4(SH3BP2):c.*3350C>G http://identifiers.org/clinvar/348659 ^@ NM_003023.4(SH3BP2):c.*3387G>A http://identifiers.org/clinvar/352243 ^@ NM_001135243.1(TCOF1):c.*241A>G http://identifiers.org/clinvar/354500 ^@ NM_004385.4(VCAN):c.*1678G>T http://identifiers.org/clinvar/352244 ^@ NM_001135243.1(TCOF1):c.*390C>T http://identifiers.org/clinvar/348660 ^@ NM_003023.4(SH3BP2):c.*3560C>T http://identifiers.org/clinvar/348665 ^@ NM_003023.4(SH3BP2):c.*3877G>C http://identifiers.org/clinvar/348640 ^@ NM_003023.4(SH3BP2):c.*2623G>T http://identifiers.org/clinvar/348644 ^@ NM_003023.4(SH3BP2):c.*2917C>T http://identifiers.org/clinvar/348674 ^@ NM_003023.4(SH3BP2):c.*4563A>C http://identifiers.org/clinvar/348676 ^@ NM_003023.4(SH3BP2):c.*4818dupT http://identifiers.org/clinvar/352245 ^@ NM_001135243.1(TCOF1):c.*391G>A http://identifiers.org/clinvar/354503 ^@ NM_002890.2(RASA1):c.-122_-120delGTT http://identifiers.org/clinvar/348682 ^@ NM_003023.4(SH3BP2):c.*5162A>G http://identifiers.org/clinvar/352250 ^@ NM_000405.4(GM2A):c.-44G>A http://identifiers.org/clinvar/352253 ^@ NM_000405.4(GM2A):c.126G>A (p.Gly42=) http://identifiers.org/clinvar/354505 ^@ NM_002890.2(RASA1):c.224G>C (p.Gly75Ala) http://identifiers.org/clinvar/354513 ^@ NM_002890.2(RASA1):c.899+8A>G http://identifiers.org/clinvar/354515 ^@ NM_002890.2(RASA1):c.1305T>C (p.Tyr435=) http://identifiers.org/clinvar/348646 ^@ NM_003023.4(SH3BP2):c.*3015G>A http://identifiers.org/clinvar/348647 ^@ NM_003023.4(SH3BP2):c.*3078G>A http://identifiers.org/clinvar/354521 ^@ NM_002890.2(RASA1):c.2011+4A>C http://identifiers.org/clinvar/348648 ^@ NM_003023.4(SH3BP2):c.*3106A>T http://identifiers.org/clinvar/352254 ^@ NM_000405.4(GM2A):c.254T>G (p.Val85Gly) http://identifiers.org/clinvar/354525 ^@ NM_002890.2(RASA1):c.2603C>T (p.Pro868Leu) http://identifiers.org/clinvar/348684 ^@ NM_003023.4(SH3BP2):c.*5329C>A http://identifiers.org/clinvar/348686 ^@ NM_003023.4(SH3BP2):c.*5496A>T http://identifiers.org/clinvar/348649 ^@ NM_003023.4(SH3BP2):c.*3111C>G http://identifiers.org/clinvar/354527 ^@ NM_002890.2(RASA1):c.2691-11C>T http://identifiers.org/clinvar/354528 ^@ NM_002890.2(RASA1):c.2926-14C>T http://identifiers.org/clinvar/348689 ^@ NM_003023.4(SH3BP2):c.*5679T>C http://identifiers.org/clinvar/348692 ^@ NM_003023.4(SH3BP2):c.*5747T>G http://identifiers.org/clinvar/354533 ^@ NM_002890.2(RASA1):c.*298T>C http://identifiers.org/clinvar/354534 ^@ NM_002890.2(RASA1):c.*375T>C http://identifiers.org/clinvar/348693 ^@ NM_003023.4(SH3BP2):c.*5875A>G http://identifiers.org/clinvar/348655 ^@ NM_003023.4(SH3BP2):c.*3295C>T http://identifiers.org/clinvar/348663 ^@ NM_003023.4(SH3BP2):c.*3667G>A http://identifiers.org/clinvar/348667 ^@ NM_003023.4(SH3BP2):c.*3916C>G http://identifiers.org/clinvar/348720 ^@ NM_003023.4(SH3BP2):c.*7181A>G http://identifiers.org/clinvar/348668 ^@ NM_003023.4(SH3BP2):c.*3974G>T http://identifiers.org/clinvar/348670 ^@ NM_003023.4(SH3BP2):c.*4098G>A http://identifiers.org/clinvar/354542 ^@ NM_002890.2(RASA1):c.*818T>C http://identifiers.org/clinvar/348721 ^@ NM_025132.3(WDR19):c.-59dupT http://identifiers.org/clinvar/348723 ^@ NM_025132.3(WDR19):c.6+5A>G http://identifiers.org/clinvar/348725 ^@ NM_025132.3(WDR19):c.523-3T>C http://identifiers.org/clinvar/348671 ^@ NM_003023.4(SH3BP2):c.*4161C>T http://identifiers.org/clinvar/352255 ^@ NM_000405.4(GM2A):c.458T>C (p.Val153Ala) http://identifiers.org/clinvar/354544 ^@ NM_002890.2(RASA1):c.*852A>G http://identifiers.org/clinvar/354550 ^@ NM_002397.4(MEF2C):c.*3606G>A http://identifiers.org/clinvar/352260 ^@ NM_000405.4(GM2A):c.*241C>T http://identifiers.org/clinvar/352264 ^@ NM_000405.4(GM2A):c.*356C>A http://identifiers.org/clinvar/352265 ^@ NM_000405.4(GM2A):c.*376delT http://identifiers.org/clinvar/348733 ^@ NM_025132.3(WDR19):c.1249+9A>G http://identifiers.org/clinvar/348736 ^@ NM_025132.3(WDR19):c.1390C>T (p.Arg464Cys) http://identifiers.org/clinvar/348672 ^@ NM_003023.4(SH3BP2):c.*4179C>T http://identifiers.org/clinvar/354562 ^@ NM_002397.4(MEF2C):c.*2877_*2878dupTG http://identifiers.org/clinvar/348739 ^@ NM_025132.3(WDR19):c.1932G>A (p.Thr644=) http://identifiers.org/clinvar/348678 ^@ NM_003023.4(SH3BP2):c.*4832T>G http://identifiers.org/clinvar/352266 ^@ NM_000405.4(GM2A):c.*401G>A http://identifiers.org/clinvar/354564 ^@ NM_002397.4(MEF2C):c.*2771T>G http://identifiers.org/clinvar/354565 ^@ NM_002397.4(MEF2C):c.*2730A>G http://identifiers.org/clinvar/354566 ^@ NM_002397.4(MEF2C):c.*2717G>C http://identifiers.org/clinvar/348679 ^@ NM_003023.4(SH3BP2):c.*4834G>A http://identifiers.org/clinvar/348680 ^@ NM_003023.4(SH3BP2):c.*4992C>A http://identifiers.org/clinvar/348683 ^@ NM_003023.4(SH3BP2):c.*5334_*5339delTCTTTT http://identifiers.org/clinvar/348687 ^@ NM_003023.4(SH3BP2):c.*5583G>A http://identifiers.org/clinvar/348691 ^@ NM_003023.4(SH3BP2):c.*5738T>G http://identifiers.org/clinvar/348694 ^@ NM_003023.4(SH3BP2):c.*5898T>A http://identifiers.org/clinvar/348696 ^@ NM_003023.4(SH3BP2):c.*5972C>T http://identifiers.org/clinvar/354572 ^@ NM_002397.4(MEF2C):c.*2367A>T http://identifiers.org/clinvar/354581 ^@ NM_002397.4(MEF2C):c.*115delA http://identifiers.org/clinvar/354589 ^@ NM_002397.4(MEF2C):c.-91_-89delGAG http://identifiers.org/clinvar/354590 ^@ NM_002397.4(MEF2C):c.-193C>T http://identifiers.org/clinvar/352270 ^@ NM_000405.4(GM2A):c.*704T>A http://identifiers.org/clinvar/352291 ^@ NM_000405.4(GM2A):c.*2141C>T http://identifiers.org/clinvar/352293 ^@ NM_000405.4(GM2A):c.*2479C>T http://identifiers.org/clinvar/354594 ^@ NM_002397.4(MEF2C):c.-209T>C http://identifiers.org/clinvar/348740 ^@ NM_025132.3(WDR19):c.2142+12G>A http://identifiers.org/clinvar/354601 ^@ NM_002397.4(MEF2C):c.-450C>T http://identifiers.org/clinvar/348697 ^@ NM_003023.4(SH3BP2):c.*5992A>G http://identifiers.org/clinvar/348698 ^@ NM_003023.4(SH3BP2):c.*5996C>T http://identifiers.org/clinvar/354605 ^@ NM_002397.4(MEF2C):c.-531_-526dupCCTCCT http://identifiers.org/clinvar/354609 ^@ NM_000439.4(PCSK1):c.*2288A>G http://identifiers.org/clinvar/354612 ^@ NM_000439.4(PCSK1):c.*1912G>A http://identifiers.org/clinvar/348699 ^@ NM_003023.4(SH3BP2):c.*6037T>C http://identifiers.org/clinvar/348701 ^@ NM_003023.4(SH3BP2):c.*6076T>C http://identifiers.org/clinvar/348708 ^@ NM_003023.4(SH3BP2):c.*6580delT http://identifiers.org/clinvar/354617 ^@ NM_000439.4(PCSK1):c.*1530T>C http://identifiers.org/clinvar/354621 ^@ NM_000439.4(PCSK1):c.*1333A>T http://identifiers.org/clinvar/352295 ^@ NM_000405.4(GM2A):c.*2529G>A http://identifiers.org/clinvar/352297 ^@ NM_000405.4(GM2A):c.*2624C>T http://identifiers.org/clinvar/352299 ^@ NM_000405.4(GM2A):c.*2695G>A http://identifiers.org/clinvar/348746 ^@ NM_025132.3(WDR19):c.3183+9G>A http://identifiers.org/clinvar/352300 ^@ NM_000405.4(GM2A):c.*2717_*2720delAAAT http://identifiers.org/clinvar/354622 ^@ NM_000439.4(PCSK1):c.*1232G>A http://identifiers.org/clinvar/354624 ^@ NM_000439.4(PCSK1):c.*1164T>C http://identifiers.org/clinvar/354633 ^@ NM_000439.4(PCSK1):c.*287A>G http://identifiers.org/clinvar/352305 ^@ NM_000171.3(GLRA1):c.1333G>T (p.Asp445Tyr) http://identifiers.org/clinvar/352309 ^@ NM_000171.3(GLRA1):c.1046G>A (p.Arg349Gln) http://identifiers.org/clinvar/352312 ^@ NM_000171.3(GLRA1):c.723G>C (p.Arg241=) http://identifiers.org/clinvar/354635 ^@ NM_000439.4(PCSK1):c.*262delA http://identifiers.org/clinvar/354640 ^@ NM_000439.4(PCSK1):c.1993C>G (p.Gln665Glu) http://identifiers.org/clinvar/348713 ^@ NM_003023.4(SH3BP2):c.*6705C>T http://identifiers.org/clinvar/348719 ^@ NM_003023.4(SH3BP2):c.*7165T>G http://identifiers.org/clinvar/352314 ^@ NM_000171.3(GLRA1):c.697+9A>C http://identifiers.org/clinvar/352317 ^@ NM_000171.3(GLRA1):c.449G>A (p.Arg150Gln) http://identifiers.org/clinvar/348755 ^@ NM_025132.3(WDR19):c.3722C>T (p.Pro1241Leu) http://identifiers.org/clinvar/352320 ^@ NM_000171.3(GLRA1):c.198C>T (p.Asn66=) http://identifiers.org/clinvar/354641 ^@ NM_000439.4(PCSK1):c.1923G>A (p.Leu641=) http://identifiers.org/clinvar/348716 ^@ NM_003023.4(SH3BP2):c.*7167dupT http://identifiers.org/clinvar/354642 ^@ NM_000439.4(PCSK1):c.1764G>A (p.Lys588=) http://identifiers.org/clinvar/354650 ^@ NM_000439.4(PCSK1):c.709+11G>A http://identifiers.org/clinvar/354662 ^@ NM_005068.2(SIM1):c.*1451_*1452dupTG http://identifiers.org/clinvar/348726 ^@ NM_025132.3(WDR19):c.750A>T (p.Ser250=) http://identifiers.org/clinvar/348727 ^@ NM_025132.3(WDR19):c.929A>G (p.Tyr310Cys) http://identifiers.org/clinvar/348730 ^@ NM_025132.3(WDR19):c.1134+13T>G http://identifiers.org/clinvar/348742 ^@ NM_025132.3(WDR19):c.2364-15T>C http://identifiers.org/clinvar/348744 ^@ NM_025132.3(WDR19):c.2782A>T (p.Ile928Phe) http://identifiers.org/clinvar/352330 ^@ NM_000337.5(SGCD):c.-135C>T http://identifiers.org/clinvar/352342 ^@ NM_000337.5(SGCD):c.*363C>T http://identifiers.org/clinvar/348745 ^@ NM_025132.3(WDR19):c.3016A>G (p.Thr1006Ala) http://identifiers.org/clinvar/354664 ^@ NM_005068.2(SIM1):c.*1278C>T http://identifiers.org/clinvar/354665 ^@ NM_005068.2(SIM1):c.*1125T>C http://identifiers.org/clinvar/348748 ^@ NM_025132.3(WDR19):c.3283T>C (p.Leu1095=) http://identifiers.org/clinvar/348751 ^@ NM_025132.3(WDR19):c.3416A>G (p.Gln1139Arg) http://identifiers.org/clinvar/348754 ^@ NM_025132.3(WDR19):c.3667C>T (p.Arg1223Cys) http://identifiers.org/clinvar/348756 ^@ NM_025132.3(WDR19):c.3775C>A (p.Leu1259Ile) http://identifiers.org/clinvar/348757 ^@ NM_025132.3(WDR19):c.*13+14C>T http://identifiers.org/clinvar/352347 ^@ NM_000337.5(SGCD):c.*781G>C http://identifiers.org/clinvar/354674 ^@ NM_005068.2(SIM1):c.*51G>A http://identifiers.org/clinvar/348761 ^@ NM_025132.3(WDR19):c.*184T>G http://identifiers.org/clinvar/354675 ^@ NM_005068.2(SIM1):c.2194T>C (p.Leu732=) http://identifiers.org/clinvar/354679 ^@ NM_005068.2(SIM1):c.1125C>T (p.Leu375=) http://identifiers.org/clinvar/348763 ^@ NM_025132.3(WDR19):c.*293_*296dupAACT http://identifiers.org/clinvar/348764 ^@ NM_004181.4(UCHL1):c.-71C>G http://identifiers.org/clinvar/352350 ^@ NM_000337.5(SGCD):c.*1112G>A http://identifiers.org/clinvar/354681 ^@ NM_005068.2(SIM1):c.1054C>A (p.Pro352Thr) http://identifiers.org/clinvar/354684 ^@ NM_005068.2(SIM1):c.804T>C (p.His268=) http://identifiers.org/clinvar/348770 ^@ NM_004181.4(UCHL1):c.175-5C>T http://identifiers.org/clinvar/348772 ^@ NM_004181.4(UCHL1):c.513C>T (p.His171=) http://identifiers.org/clinvar/348773 ^@ NM_004181.4(UCHL1):c.527-3C>T http://identifiers.org/clinvar/352358 ^@ NM_000337.5(SGCD):c.*1871G>A http://identifiers.org/clinvar/352359 ^@ NM_000337.5(SGCD):c.*2236T>C http://identifiers.org/clinvar/354691 ^@ NM_001491.2(GCNT2):c.-675G>T http://identifiers.org/clinvar/348775 ^@ NM_004181.4(UCHL1):c.609A>G (p.Glu203=) http://identifiers.org/clinvar/354694 ^@ NM_001491.2(GCNT2):c.-549G>A http://identifiers.org/clinvar/348786 ^@ NM_003924.3(PHOX2B):c.*1381C>T http://identifiers.org/clinvar/348793 ^@ NM_003924.3(PHOX2B):c.*737C>T http://identifiers.org/clinvar/348794 ^@ NM_003924.3(PHOX2B):c.*693C>T http://identifiers.org/clinvar/352368 ^@ NM_000337.5(SGCD):c.*3361T>C http://identifiers.org/clinvar/352371 ^@ NM_000337.5(SGCD):c.*3491G>A http://identifiers.org/clinvar/354696 ^@ NM_001491.2(GCNT2):c.-380G>A http://identifiers.org/clinvar/352383 ^@ NM_000337.5(SGCD):c.*4089C>A http://identifiers.org/clinvar/352386 ^@ NM_000337.5(SGCD):c.*4303T>C http://identifiers.org/clinvar/352387 ^@ NM_000337.5(SGCD):c.*4341dupA http://identifiers.org/clinvar/352396 ^@ NM_000337.5(SGCD):c.*4818G>A http://identifiers.org/clinvar/348797 ^@ NM_003924.3(PHOX2B):c.*600T>G http://identifiers.org/clinvar/354697 ^@ NM_001491.2(GCNT2):c.-318G>C http://identifiers.org/clinvar/354707 ^@ NM_001491.2(GCNT2):c.687T>C (p.Tyr229=) http://identifiers.org/clinvar/348801 ^@ NM_003924.3(PHOX2B):c.*161G>A http://identifiers.org/clinvar/348806 ^@ NM_003924.3(PHOX2B):c.*24_*32delGCGGCGGCG http://identifiers.org/clinvar/348809 ^@ NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu) http://identifiers.org/clinvar/354709 ^@ NM_001491.2(GCNT2):c.1179G>A (p.Ala393=) http://identifiers.org/clinvar/354710 ^@ NM_001491.2(GCNT2):c.*81G>A http://identifiers.org/clinvar/352400 ^@ NM_000337.5(SGCD):c.*5061C>G http://identifiers.org/clinvar/352403 ^@ NM_000337.5(SGCD):c.*5226G>A http://identifiers.org/clinvar/352408 ^@ NM_000337.5(SGCD):c.*5663A>G http://identifiers.org/clinvar/354713 ^@ NM_001491.2(GCNT2):c.*105C>T http://identifiers.org/clinvar/348762 ^@ NM_025132.3(WDR19):c.*229C>T http://identifiers.org/clinvar/348814 ^@ NM_001080476.2(GRXCR1):c.49C>T (p.Arg17Trp) http://identifiers.org/clinvar/352410 ^@ NM_000337.5(SGCD):c.*5749C>T http://identifiers.org/clinvar/348819 ^@ NM_001080476.2(GRXCR1):c.358T>C (p.Phe120Leu) http://identifiers.org/clinvar/352411 ^@ NM_000337.5(SGCD):c.*5863C>T http://identifiers.org/clinvar/352424 ^@ NM_000337.5(SGCD):c.*6644delT http://identifiers.org/clinvar/352427 ^@ NM_000337.5(SGCD):c.*6661delG http://identifiers.org/clinvar/352432 ^@ NM_000337.5(SGCD):c.*6833G>A http://identifiers.org/clinvar/352437 ^@ NM_000337.5(SGCD):c.*7298A>C http://identifiers.org/clinvar/354717 ^@ NM_001491.2(GCNT2):c.*467T>C http://identifiers.org/clinvar/354718 ^@ NM_001491.2(GCNT2):c.*592A>G http://identifiers.org/clinvar/354719 ^@ NM_001491.2(GCNT2):c.*637A>G http://identifiers.org/clinvar/352441 ^@ NM_000337.5(SGCD):c.*7507A>G http://identifiers.org/clinvar/352444 ^@ NM_000337.5(SGCD):c.*7596A>G http://identifiers.org/clinvar/352445 ^@ NM_000337.5(SGCD):c.*7814C>T http://identifiers.org/clinvar/352448 ^@ NM_000337.5(SGCD):c.*7866G>A http://identifiers.org/clinvar/354721 ^@ NM_001491.2(GCNT2):c.*682G>C http://identifiers.org/clinvar/352455 ^@ NM_005546.3(ITK):c.-32C>A http://identifiers.org/clinvar/352456 ^@ NM_005546.3(ITK):c.139-6C>T http://identifiers.org/clinvar/352462 ^@ NM_005546.3(ITK):c.496-4C>G http://identifiers.org/clinvar/352464 ^@ NM_005546.3(ITK):c.578G>A (p.Arg193Gln) http://identifiers.org/clinvar/352467 ^@ NM_005546.3(ITK):c.769-10A>T http://identifiers.org/clinvar/348823 ^@ NM_001080476.2(GRXCR1):c.745C>G (p.Pro249Ala) http://identifiers.org/clinvar/352469 ^@ NM_005546.3(ITK):c.1039G>A (p.Val347Ile) http://identifiers.org/clinvar/352480 ^@ NM_005546.3(ITK):c.*153A>C http://identifiers.org/clinvar/352482 ^@ NM_005546.3(ITK):c.*486G>T http://identifiers.org/clinvar/348825 ^@ NM_001080476.2(GRXCR1):c.858G>T (p.Lys286Asn) http://identifiers.org/clinvar/354723 ^@ NM_001491.2(GCNT2):c.*1015_*1018delTTCA http://identifiers.org/clinvar/348827 ^@ NM_001080476.2(GRXCR1):c.*69T>A http://identifiers.org/clinvar/354724 ^@ NM_001491.2(GCNT2):c.*1022_*1025dupTTCA http://identifiers.org/clinvar/348765 ^@ NM_004181.4(UCHL1):c.-47C>T http://identifiers.org/clinvar/348766 ^@ NM_004181.4(UCHL1):c.-24A>G http://identifiers.org/clinvar/352487 ^@ NM_005546.3(ITK):c.*980C>T http://identifiers.org/clinvar/354728 ^@ NM_001491.2(GCNT2):c.*1314C>T http://identifiers.org/clinvar/354734 ^@ NM_001491.2(GCNT2):c.*1990C>T http://identifiers.org/clinvar/354737 ^@ NM_001491.2(GCNT2):c.*2322dupT http://identifiers.org/clinvar/354744 ^@ NM_020381.3(PDSS2):c.*1886_*1887insAA http://identifiers.org/clinvar/348774 ^@ NM_004181.4(UCHL1):c.558C>T (p.Gly186=) http://identifiers.org/clinvar/348777 ^@ NM_004181.4(UCHL1):c.*294G>A http://identifiers.org/clinvar/348779 ^@ NM_003924.3(PHOX2B):c.*1701A>G http://identifiers.org/clinvar/352489 ^@ NM_005546.3(ITK):c.*1154T>A http://identifiers.org/clinvar/348787 ^@ NM_003924.3(PHOX2B):c.*1364G>A http://identifiers.org/clinvar/352492 ^@ NM_005546.3(ITK):c.*1208G>T http://identifiers.org/clinvar/354745 ^@ NM_020381.3(PDSS2):c.*1886G>A http://identifiers.org/clinvar/352494 ^@ NM_005546.3(ITK):c.*1361G>A http://identifiers.org/clinvar/354750 ^@ NM_020381.3(PDSS2):c.*1586T>A http://identifiers.org/clinvar/354751 ^@ NM_020381.3(PDSS2):c.*1433A>G http://identifiers.org/clinvar/348838 ^@ NM_000087.3(CNGA1):c.1475T>C (p.Val492Ala) http://identifiers.org/clinvar/354752 ^@ NM_020381.3(PDSS2):c.*1335G>A http://identifiers.org/clinvar/354754 ^@ NM_020381.3(PDSS2):c.*969T>G http://identifiers.org/clinvar/354762 ^@ NM_020381.3(PDSS2):c.*385G>A http://identifiers.org/clinvar/348789 ^@ NM_003924.3(PHOX2B):c.*1310G>T http://identifiers.org/clinvar/348799 ^@ NM_003924.3(PHOX2B):c.*550G>A http://identifiers.org/clinvar/348798 ^@ NM_003924.3(PHOX2B):c.*549dupA http://identifiers.org/clinvar/348800 ^@ NM_003924.3(PHOX2B):c.*194C>T http://identifiers.org/clinvar/348803 ^@ NM_003924.3(PHOX2B):c.*60G>A http://identifiers.org/clinvar/352496 ^@ NM_005546.3(ITK):c.*1682G>T http://identifiers.org/clinvar/354774 ^@ NM_001242957.2(MAK):c.*966C>T http://identifiers.org/clinvar/354777 ^@ NM_001242957.2(MAK):c.*601dupT http://identifiers.org/clinvar/352498 ^@ NM_005546.3(ITK):c.*1761T>A http://identifiers.org/clinvar/352499 ^@ NM_005546.3(ITK):c.*1767C>A http://identifiers.org/clinvar/352503 ^@ NM_001099287.1(NIPAL4):c.-41C>T http://identifiers.org/clinvar/354779 ^@ NM_001242957.2(MAK):c.*311_*312dupAA http://identifiers.org/clinvar/348810 ^@ NM_003924.3(PHOX2B):c.729A>G (p.Ala243=) http://identifiers.org/clinvar/354783 ^@ NM_001242957.2(MAK):c.1905T>C (p.His635=) http://identifiers.org/clinvar/348840 ^@ NM_000087.3(CNGA1):c.841A>G (p.Met281Val) http://identifiers.org/clinvar/348841 ^@ NM_000087.3(CNGA1):c.717A>G (p.Lys239=) http://identifiers.org/clinvar/352504 ^@ NM_001099287.1(NIPAL4):c.63G>A (p.Leu21=) http://identifiers.org/clinvar/352508 ^@ NM_001099287.1(NIPAL4):c.379C>T (p.Leu127=) http://identifiers.org/clinvar/354787 ^@ NM_001242957.2(MAK):c.1778A>G (p.Asn593Ser) http://identifiers.org/clinvar/348812 ^@ NM_003924.3(PHOX2B):c.-210C>A http://identifiers.org/clinvar/348813 ^@ NM_003924.3(PHOX2B):c.-265G>A http://identifiers.org/clinvar/348849 ^@ NM_000232.4(SGCB):c.*2984G>A http://identifiers.org/clinvar/352510 ^@ NM_001099287.1(NIPAL4):c.451G>A (p.Ala151Thr) http://identifiers.org/clinvar/352516 ^@ NM_001099287.1(NIPAL4):c.773-5C>A http://identifiers.org/clinvar/348815 ^@ NM_001080476.2(GRXCR1):c.236G>A (p.Ser79Asn) http://identifiers.org/clinvar/348816 ^@ NM_001080476.2(GRXCR1):c.284G>C (p.Arg95Thr) http://identifiers.org/clinvar/348851 ^@ NM_000232.4(SGCB):c.*2907T>C http://identifiers.org/clinvar/348821 ^@ NM_001080476.2(GRXCR1):c.551A>T (p.Glu184Val) http://identifiers.org/clinvar/348826 ^@ NM_001080476.2(GRXCR1):c.*55G>A http://identifiers.org/clinvar/352517 ^@ NM_001099287.1(NIPAL4):c.839G>A (p.Arg280His) http://identifiers.org/clinvar/354788 ^@ NM_001242957.2(MAK):c.1762C>T (p.His588Tyr) http://identifiers.org/clinvar/352527 ^@ NM_001099287.1(NIPAL4):c.*227T>A http://identifiers.org/clinvar/352528 ^@ NM_001099287.1(NIPAL4):c.*227_*228delTCinsAG http://identifiers.org/clinvar/352531 ^@ NM_001099287.1(NIPAL4):c.*423_*425delGTT http://identifiers.org/clinvar/348853 ^@ NM_000232.4(SGCB):c.*2764G>A http://identifiers.org/clinvar/348854 ^@ NM_000232.4(SGCB):c.*2707T>C http://identifiers.org/clinvar/352537 ^@ NM_001099287.1(NIPAL4):c.*903G>A http://identifiers.org/clinvar/352543 ^@ NM_001099287.1(NIPAL4):c.*1356T>C http://identifiers.org/clinvar/348858 ^@ NM_000232.4(SGCB):c.*2166T>C http://identifiers.org/clinvar/354806 ^@ NM_007214.4(SEC63):c.*3948A>T http://identifiers.org/clinvar/354811 ^@ NM_007214.4(SEC63):c.*3704C>G http://identifiers.org/clinvar/348828 ^@ NM_001080476.2(GRXCR1):c.*89G>A http://identifiers.org/clinvar/348859 ^@ NM_000232.4(SGCB):c.*2129delT http://identifiers.org/clinvar/348862 ^@ NM_000232.4(SGCB):c.*1722_*1726delATTTA http://identifiers.org/clinvar/354812 ^@ NM_007214.4(SEC63):c.*3580G>A http://identifiers.org/clinvar/348868 ^@ NM_000232.4(SGCB):c.*1125T>A http://identifiers.org/clinvar/348870 ^@ NM_000232.4(SGCB):c.*1115G>T http://identifiers.org/clinvar/348874 ^@ NM_000232.4(SGCB):c.*847T>C http://identifiers.org/clinvar/348877 ^@ NM_000232.4(SGCB):c.*521A>T http://identifiers.org/clinvar/352544 ^@ NM_001099287.1(NIPAL4):c.*1395_*1397delGAA http://identifiers.org/clinvar/354815 ^@ NM_007214.4(SEC63):c.*3502C>T http://identifiers.org/clinvar/354820 ^@ NM_007214.4(SEC63):c.*3480dupT http://identifiers.org/clinvar/354822 ^@ NM_007214.4(SEC63):c.*3469T>G http://identifiers.org/clinvar/348830 ^@ NM_000087.3(CNGA1):c.*274C>T http://identifiers.org/clinvar/348832 ^@ NM_000087.3(CNGA1):c.*62A>T http://identifiers.org/clinvar/348879 ^@ NM_000232.4(SGCB):c.*375G>T http://identifiers.org/clinvar/354825 ^@ NM_007214.4(SEC63):c.*3431A>C http://identifiers.org/clinvar/354839 ^@ NM_007214.4(SEC63):c.*2833A>C http://identifiers.org/clinvar/354841 ^@ NM_007214.4(SEC63):c.*2705T>C http://identifiers.org/clinvar/348880 ^@ NM_000232.4(SGCB):c.*175A>G http://identifiers.org/clinvar/348881 ^@ NM_000232.4(SGCB):c.*23A>T http://identifiers.org/clinvar/352546 ^@ NM_001099287.1(NIPAL4):c.*1494_*1499dupCTACCT http://identifiers.org/clinvar/354844 ^@ NM_007214.4(SEC63):c.*2607G>C http://identifiers.org/clinvar/352553 ^@ NM_002187.2(IL12B):c.*1232A>G http://identifiers.org/clinvar/348883 ^@ NM_000232.4(SGCB):c.34-9C>A http://identifiers.org/clinvar/352557 ^@ NM_002187.2(IL12B):c.*991delT http://identifiers.org/clinvar/348833 ^@ NM_000087.3(CNGA1):c.*35C>T http://identifiers.org/clinvar/352563 ^@ NM_002187.2(IL12B):c.*520C>T http://identifiers.org/clinvar/348884 ^@ NM_000232.4(SGCB):c.-5G>T http://identifiers.org/clinvar/352569 ^@ NM_002187.2(IL12B):c.*159A>C http://identifiers.org/clinvar/354847 ^@ NM_007214.4(SEC63):c.*2479dupT http://identifiers.org/clinvar/354857 ^@ NM_007214.4(SEC63):c.*1927_*1932delAAAAAC http://identifiers.org/clinvar/354862 ^@ NM_007214.4(SEC63):c.*1839C>G http://identifiers.org/clinvar/348887 ^@ NM_000232.4(SGCB):c.-30G>C http://identifiers.org/clinvar/348888 ^@ NM_000232.4(SGCB):c.-59C>G http://identifiers.org/clinvar/354876 ^@ NM_007214.4(SEC63):c.*1113T>C http://identifiers.org/clinvar/352574 ^@ NM_002187.2(IL12B):c.738A>G (p.Leu246=) http://identifiers.org/clinvar/352578 ^@ NM_002187.2(IL12B):c.-29A>G http://identifiers.org/clinvar/348889 ^@ NM_006206.4(PDGFRA):c.-318G>A http://identifiers.org/clinvar/348892 ^@ NM_006206.4(PDGFRA):c.-170C>T http://identifiers.org/clinvar/348897 ^@ NM_006206.4(PDGFRA):c.932-4A>G http://identifiers.org/clinvar/348834 ^@ NM_000087.3(CNGA1):c.2046G>A (p.Ala682=) http://identifiers.org/clinvar/354878 ^@ NM_007214.4(SEC63):c.*907C>T http://identifiers.org/clinvar/354885 ^@ NM_007214.4(SEC63):c.*257A>G http://identifiers.org/clinvar/348835 ^@ NM_000087.3(CNGA1):c.1724G>A (p.Cys575Tyr) http://identifiers.org/clinvar/352579 ^@ NM_000806.5(GABRA1):c.-455G>A http://identifiers.org/clinvar/348901 ^@ NM_006206.4(PDGFRA):c.1365-12T>C http://identifiers.org/clinvar/348904 ^@ NM_006206.4(PDGFRA):c.2003-7C>T http://identifiers.org/clinvar/354893 ^@ NM_007214.4(SEC63):c.1936-4_1936-3insTT http://identifiers.org/clinvar/354903 ^@ NM_007214.4(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr) http://identifiers.org/clinvar/348839 ^@ NM_000087.3(CNGA1):c.1419A>G (p.Thr473=) http://identifiers.org/clinvar/348845 ^@ NM_000087.3(CNGA1):c.95G>A (p.Arg32Gln) http://identifiers.org/clinvar/348860 ^@ NM_000232.4(SGCB):c.*2097T>G http://identifiers.org/clinvar/352583 ^@ NM_000806.5(GABRA1):c.-448G>C http://identifiers.org/clinvar/348867 ^@ NM_000232.4(SGCB):c.*1127A>G http://identifiers.org/clinvar/348875 ^@ NM_000232.4(SGCB):c.*724C>T http://identifiers.org/clinvar/354906 ^@ NM_007214.4(SEC63):c.1210-7delT http://identifiers.org/clinvar/352580 ^@ NM_000806.5(GABRA1):c.-442dupG http://identifiers.org/clinvar/354907 ^@ NM_007214.4(SEC63):c.1176G>A (p.Glu392=) http://identifiers.org/clinvar/352587 ^@ NM_000806.5(GABRA1):c.-405T>C http://identifiers.org/clinvar/352588 ^@ NM_000806.5(GABRA1):c.-248+8C>A http://identifiers.org/clinvar/354910 ^@ NM_007214.4(SEC63):c.807G>A (p.Thr269=) http://identifiers.org/clinvar/354913 ^@ NM_007214.4(SEC63):c.340-9_340-7delTTT http://identifiers.org/clinvar/352596 ^@ NM_000806.5(GABRA1):c.477-14A>G http://identifiers.org/clinvar/348882 ^@ NM_000232.4(SGCB):c.798C>A (p.Thr266=) http://identifiers.org/clinvar/352605 ^@ NM_000806.5(GABRA1):c.*398A>C http://identifiers.org/clinvar/348899 ^@ NM_006206.4(PDGFRA):c.995T>C (p.Val332Ala) http://identifiers.org/clinvar/354914 ^@ NM_007214.4(SEC63):c.340-12_340-10delGTT http://identifiers.org/clinvar/348906 ^@ NM_006206.4(PDGFRA):c.2574C>A (p.Pro858=) http://identifiers.org/clinvar/352618 ^@ NM_000806.5(GABRA1):c.*1659A>G http://identifiers.org/clinvar/354922 ^@ NM_007214.4(SEC63):c.-215G>A http://identifiers.org/clinvar/354924 ^@ NM_007214.4(SEC63):c.-264T>C http://identifiers.org/clinvar/352619 ^@ NM_000806.5(GABRA1):c.*1752G>T http://identifiers.org/clinvar/354798 ^@ NM_001242957.2(MAK):c.968C>G (p.Pro323Arg) http://identifiers.org/clinvar/354931 ^@ NM_014028.3(OSTM1):c.*2858A>G http://identifiers.org/clinvar/354932 ^@ NM_014028.3(OSTM1):c.*2773G>A http://identifiers.org/clinvar/348910 ^@ NM_006206.4(PDGFRA):c.*39C>T http://identifiers.org/clinvar/348913 ^@ NM_006206.4(PDGFRA):c.*78A>G http://identifiers.org/clinvar/352625 ^@ NM_000806.5(GABRA1):c.*2334C>T http://identifiers.org/clinvar/354935 ^@ NM_014028.3(OSTM1):c.*2517_*2518delGT http://identifiers.org/clinvar/352631 ^@ NM_000816.3(GABRG2):c.-217C>G http://identifiers.org/clinvar/348914 ^@ NM_006206.4(PDGFRA):c.*136G>A http://identifiers.org/clinvar/354936 ^@ NM_014028.3(OSTM1):c.*2517delG http://identifiers.org/clinvar/354937 ^@ NM_014028.3(OSTM1):c.*2515_*2516delTT http://identifiers.org/clinvar/348907 ^@ NM_006206.4(PDGFRA):c.2674+6G>A http://identifiers.org/clinvar/348912 ^@ NM_006206.4(PDGFRA):c.*72C>A http://identifiers.org/clinvar/352637 ^@ NM_000816.3(GABRG2):c.-4delA http://identifiers.org/clinvar/354940 ^@ NM_014028.3(OSTM1):c.*2371G>A http://identifiers.org/clinvar/348921 ^@ NM_006206.4(PDGFRA):c.*832T>C http://identifiers.org/clinvar/354944 ^@ NM_014028.3(OSTM1):c.*2329G>T http://identifiers.org/clinvar/354945 ^@ NM_014028.3(OSTM1):c.*2317A>C http://identifiers.org/clinvar/352641 ^@ NM_000816.3(GABRG2):c.769+10A>G http://identifiers.org/clinvar/348917 ^@ NM_006206.4(PDGFRA):c.*505A>G http://identifiers.org/clinvar/348920 ^@ NM_006206.4(PDGFRA):c.*793C>T http://identifiers.org/clinvar/348925 ^@ NM_006206.4(PDGFRA):c.*1109_*1111delTTT http://identifiers.org/clinvar/348924 ^@ NM_006206.4(PDGFRA):c.*1110_*1111delTT http://identifiers.org/clinvar/348931 ^@ NM_006206.4(PDGFRA):c.*1521C>T http://identifiers.org/clinvar/348940 ^@ NM_006206.4(PDGFRA):c.*2111G>A http://identifiers.org/clinvar/354956 ^@ NM_014028.3(OSTM1):c.*1574A>G http://identifiers.org/clinvar/352642 ^@ NM_000816.3(GABRG2):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/354958 ^@ NM_014028.3(OSTM1):c.*1455C>T http://identifiers.org/clinvar/354965 ^@ NM_014028.3(OSTM1):c.*1334T>C http://identifiers.org/clinvar/352645 ^@ NM_000816.3(GABRG2):c.1401G>A (p.Leu467=) http://identifiers.org/clinvar/354968 ^@ NM_014028.3(OSTM1):c.*1082G>A http://identifiers.org/clinvar/348941 ^@ NM_006206.4(PDGFRA):c.*2256G>T http://identifiers.org/clinvar/348949 ^@ NM_006206.4(PDGFRA):c.*2559G>A http://identifiers.org/clinvar/348953 ^@ NM_006206.4(PDGFRA):c.*2970G>T http://identifiers.org/clinvar/348926 ^@ NM_006206.4(PDGFRA):c.*1111delT http://identifiers.org/clinvar/348933 ^@ NM_006206.4(PDGFRA):c.*1706T>C http://identifiers.org/clinvar/348946 ^@ NM_006206.4(PDGFRA):c.*2496A>G http://identifiers.org/clinvar/354974 ^@ NM_014028.3(OSTM1):c.*432T>G http://identifiers.org/clinvar/354983 ^@ NM_014028.3(OSTM1):c.933A>G (p.Lys311=) http://identifiers.org/clinvar/348954 ^@ NM_000222.2(KIT):c.301C>T (p.His101Tyr) http://identifiers.org/clinvar/348958 ^@ NM_000222.2(KIT):c.*198A>G http://identifiers.org/clinvar/348967 ^@ NM_000222.2(KIT):c.*1086C>T http://identifiers.org/clinvar/348969 ^@ NM_000222.2(KIT):c.*1241G>A http://identifiers.org/clinvar/354990 ^@ NM_014028.3(OSTM1):c.156G>C (p.Leu52Phe) http://identifiers.org/clinvar/348970 ^@ NM_000222.2(KIT):c.*1487_*1490delAAAA http://identifiers.org/clinvar/354992 ^@ NM_014028.3(OSTM1):c.-52G>T http://identifiers.org/clinvar/352648 ^@ NM_000816.3(GABRG2):c.*247T>C http://identifiers.org/clinvar/352652 ^@ NM_000816.3(GABRG2):c.*385G>A http://identifiers.org/clinvar/352654 ^@ NM_000816.3(GABRG2):c.*441T>C http://identifiers.org/clinvar/348974 ^@ NM_000222.2(KIT):c.*1808A>G http://identifiers.org/clinvar/349011 ^@ NM_024592.4(SRD5A3):c.*104T>A http://identifiers.org/clinvar/349015 ^@ NM_024592.4(SRD5A3):c.*340_*341delTC http://identifiers.org/clinvar/348947 ^@ NM_006206.4(PDGFRA):c.*2504C>T http://identifiers.org/clinvar/349020 ^@ NM_024592.4(SRD5A3):c.*707G>T http://identifiers.org/clinvar/354987 ^@ NM_001242957.1(MAK):c.-254G>C http://identifiers.org/clinvar/349022 ^@ NM_024592.4(SRD5A3):c.*879C>T http://identifiers.org/clinvar/349024 ^@ NM_024592.4(SRD5A3):c.*1069G>A http://identifiers.org/clinvar/354995 ^@ NM_004752.3(GCM2):c.*726dupT http://identifiers.org/clinvar/355001 ^@ NM_004752.3(GCM2):c.*607A>G http://identifiers.org/clinvar/355004 ^@ NM_004752.3(GCM2):c.*217T>A http://identifiers.org/clinvar/348948 ^@ NM_006206.4(PDGFRA):c.*2538G>A http://identifiers.org/clinvar/348952 ^@ NM_006206.4(PDGFRA):c.*2856A>G http://identifiers.org/clinvar/348959 ^@ NM_000222.2(KIT):c.*217G>A http://identifiers.org/clinvar/352655 ^@ NM_000816.3(GABRG2):c.*609C>T http://identifiers.org/clinvar/348963 ^@ NM_000222.2(KIT):c.*393A>G http://identifiers.org/clinvar/348965 ^@ NM_000222.2(KIT):c.*790A>G http://identifiers.org/clinvar/355008 ^@ NM_004752.3(GCM2):c.1181A>C (p.Tyr394Ser) http://identifiers.org/clinvar/355009 ^@ NM_004752.3(GCM2):c.1060A>G (p.Met354Val) http://identifiers.org/clinvar/352668 ^@ NM_000816.3(GABRG2):c.*1974G>A http://identifiers.org/clinvar/352672 ^@ NM_001034850.2(RETREG1):c.*1641A>G http://identifiers.org/clinvar/352675 ^@ NM_001034850.2(RETREG1):c.*1012G>A http://identifiers.org/clinvar/352677 ^@ NM_001034850.2(RETREG1):c.*853G>A http://identifiers.org/clinvar/348971 ^@ NM_000222.2(KIT):c.*1524A>G http://identifiers.org/clinvar/349005 ^@ NM_024592.4(SRD5A3):c.-30C>A http://identifiers.org/clinvar/355014 ^@ NM_004752.3(GCM2):c.462G>A (p.Lys154=) http://identifiers.org/clinvar/349033 ^@ NM_024592.4(SRD5A3):c.*2005T>C http://identifiers.org/clinvar/355015 ^@ NM_004752.3(GCM2):c.457-10G>A http://identifiers.org/clinvar/349049 ^@ NM_024592.4(SRD5A3):c.*2844_*2845delCA http://identifiers.org/clinvar/352679 ^@ NM_001034850.2(RETREG1):c.*498G>A http://identifiers.org/clinvar/349052 ^@ NM_024592.4(SRD5A3):c.*2858delA http://identifiers.org/clinvar/355016 ^@ NM_004752.3(GCM2):c.344-7T>C http://identifiers.org/clinvar/355018 ^@ NM_004752.3(GCM2):c.265C>G (p.Gln89Glu) http://identifiers.org/clinvar/349055 ^@ NM_024592.4(SRD5A3):c.*2984A>G http://identifiers.org/clinvar/349065 ^@ NM_018475.4(TMEM165):c.433+15C>A http://identifiers.org/clinvar/355023 ^@ NM_004752.3(GCM2):c.-44T>C http://identifiers.org/clinvar/355031 ^@ NM_014845.5(FIG4):c.-112G>A http://identifiers.org/clinvar/355032 ^@ NM_014845.5(FIG4):c.-84A>G http://identifiers.org/clinvar/349067 ^@ NM_018475.4(TMEM165):c.602A>G (p.Asp201Gly) http://identifiers.org/clinvar/349069 ^@ NM_018475.4(TMEM165):c.*2_*3delAA http://identifiers.org/clinvar/349075 ^@ NM_018475.4(TMEM165):c.*568dupT http://identifiers.org/clinvar/348986 ^@ NM_147127.4(EVC2):c.3253C>T (p.Leu1085=) http://identifiers.org/clinvar/349010 ^@ NM_024592.4(SRD5A3):c.*92G>A http://identifiers.org/clinvar/355038 ^@ NM_014845.5(FIG4):c.1242T>C (p.Ile414=) http://identifiers.org/clinvar/355040 ^@ NM_014845.5(FIG4):c.1666dupA (p.Thr556Asnfs) http://identifiers.org/clinvar/349013 ^@ NM_024592.4(SRD5A3):c.*319_*326delACCGAAAA http://identifiers.org/clinvar/349014 ^@ NM_024592.4(SRD5A3):c.*321C>T http://identifiers.org/clinvar/349016 ^@ NM_024592.4(SRD5A3):c.*377_*382dupCACACA http://identifiers.org/clinvar/352684 ^@ NM_001034850.2(RETREG1):c.*55delG http://identifiers.org/clinvar/352685 ^@ NM_001034850.2(RETREG1):c.1300C>G (p.Gln434Glu) http://identifiers.org/clinvar/349021 ^@ NM_024592.4(SRD5A3):c.*854G>T http://identifiers.org/clinvar/352686 ^@ NM_001034850.2(RETREG1):c.1089T>C (p.Asp363=) http://identifiers.org/clinvar/352695 ^@ NM_001034850.2(RETREG1):c.321-10G>A http://identifiers.org/clinvar/349029 ^@ NM_024592.4(SRD5A3):c.*1601G>A http://identifiers.org/clinvar/348988 ^@ NM_147127.4(EVC2):c.3157G>A (p.Asp1053Asn) http://identifiers.org/clinvar/352696 ^@ NM_001034850.2(RETREG1):c.76_81dupTCGCCG (p.Pro27_Pro28insSerPro) http://identifiers.org/clinvar/355052 ^@ NM_014845.5(FIG4):c.*120C>T http://identifiers.org/clinvar/348993 ^@ NM_147127.4(EVC2):c.2983C>G (p.Leu995Val) http://identifiers.org/clinvar/349034 ^@ NM_024592.4(SRD5A3):c.*2063G>A http://identifiers.org/clinvar/352699 ^@ NM_001034850.2(RETREG1):c.6G>A (p.Ala2=) http://identifiers.org/clinvar/352700 ^@ NM_012188.4(FOXI1):c.-18G>A http://identifiers.org/clinvar/355054 ^@ NM_003880.3(WISP3):c.-81A>G http://identifiers.org/clinvar/349041 ^@ NM_024592.4(SRD5A3):c.*2256C>T http://identifiers.org/clinvar/355056 ^@ NM_003880.3(WISP3):c.72T>C (p.Thr24=) http://identifiers.org/clinvar/349045 ^@ NM_024592.4(SRD5A3):c.*2437G>C http://identifiers.org/clinvar/349046 ^@ NM_024592.4(SRD5A3):c.*2560A>G http://identifiers.org/clinvar/349053 ^@ NM_024592.4(SRD5A3):c.*2870A>G http://identifiers.org/clinvar/349063 ^@ NM_018475.4(TMEM165):c.-252C>A http://identifiers.org/clinvar/348999 ^@ NM_147127.4(EVC2):c.2706+13T>C http://identifiers.org/clinvar/349057 ^@ NM_147127.4(EVC2):c.2395G>C (p.Asp799His) http://identifiers.org/clinvar/349060 ^@ NM_147127.4(EVC2):c.2257C>T (p.Arg753Cys) http://identifiers.org/clinvar/352702 ^@ NM_012188.4(FOXI1):c.279G>A (p.Arg93=) http://identifiers.org/clinvar/349077 ^@ NM_147127.4(EVC2):c.1882G>A (p.Glu628Lys) http://identifiers.org/clinvar/352704 ^@ NM_012188.4(FOXI1):c.318C>G (p.Asp106Glu) http://identifiers.org/clinvar/352705 ^@ NM_012188.4(FOXI1):c.568G>C (p.Asp190His) http://identifiers.org/clinvar/349079 ^@ NM_147127.4(EVC2):c.1845C>T (p.Thr615=) http://identifiers.org/clinvar/352707 ^@ NM_012188.4(FOXI1):c.861C>G (p.Ala287=) http://identifiers.org/clinvar/355059 ^@ NM_003880.3(WISP3):c.91C>A (p.Pro31Thr) http://identifiers.org/clinvar/352708 ^@ NM_012188.4(FOXI1):c.938G>A (p.Gly313Glu) http://identifiers.org/clinvar/349072 ^@ NM_018475.4(TMEM165):c.*482A>T http://identifiers.org/clinvar/348978 ^@ NM_147127.4(EVC2):c.*90C>T http://identifiers.org/clinvar/348981 ^@ NM_147127.4(EVC2):c.3643C>T (p.Arg1215Cys) http://identifiers.org/clinvar/349081 ^@ NM_147127.4(EVC2):c.1711-11_1711-10dupTT http://identifiers.org/clinvar/349085 ^@ NM_147127.4(EVC2):c.1371A>C (p.Glu457Asp) http://identifiers.org/clinvar/355062 ^@ NM_003880.3(WISP3):c.183C>T (p.Cys61=) http://identifiers.org/clinvar/348992 ^@ NM_147127.4(EVC2):c.3040C>G (p.Leu1014Val) http://identifiers.org/clinvar/355071 ^@ NM_000493.3(COL10A1):c.*833T>C http://identifiers.org/clinvar/355075 ^@ NM_000493.3(COL10A1):c.*553delT http://identifiers.org/clinvar/355084 ^@ NM_000493.3(COL10A1):c.*291C>T http://identifiers.org/clinvar/348995 ^@ NM_147127.4(EVC2):c.2864G>A (p.Arg955Gln) http://identifiers.org/clinvar/348998 ^@ NM_147127.4(EVC2):c.2707-5T>C http://identifiers.org/clinvar/349001 ^@ NM_147127.4(EVC2):c.2644A>G (p.Thr882Ala) http://identifiers.org/clinvar/349076 ^@ NM_147127.4(EVC2):c.1886+11A>G http://identifiers.org/clinvar/352710 ^@ NM_012188.4(FOXI1):c.972G>C (p.Pro324=) http://identifiers.org/clinvar/355085 ^@ NM_000493.3(COL10A1):c.*246T>C http://identifiers.org/clinvar/355090 ^@ NM_000493.3(COL10A1):c.2038A>G (p.Met680Val) http://identifiers.org/clinvar/355099 ^@ NM_000493.3(COL10A1):c.1073C>T (p.Pro358Leu) http://identifiers.org/clinvar/352717 ^@ NM_012188.4(FOXI1):c.*440G>A http://identifiers.org/clinvar/355101 ^@ NM_000493.3(COL10A1):c.773G>A (p.Arg258Gln) http://identifiers.org/clinvar/355103 ^@ NM_000493.3(COL10A1):c.593G>A (p.Arg198His) http://identifiers.org/clinvar/349083 ^@ NM_147127.4(EVC2):c.1583A>G (p.Gln528Arg) http://identifiers.org/clinvar/349089 ^@ NM_147127.4(EVC2):c.1198A>G (p.Thr400Ala) http://identifiers.org/clinvar/352721 ^@ NM_012188.4(FOXI1):c.*707C>T http://identifiers.org/clinvar/352724 ^@ NM_001017995.2(SH3PXD2B):c.*4828dupT http://identifiers.org/clinvar/352728 ^@ NM_001017995.2(SH3PXD2B):c.*4805G>A http://identifiers.org/clinvar/352730 ^@ NM_001017995.2(SH3PXD2B):c.*4736A>G http://identifiers.org/clinvar/352737 ^@ NM_001017995.2(SH3PXD2B):c.*4079C>T http://identifiers.org/clinvar/355105 ^@ NM_000493.3(COL10A1):c.456T>C (p.Ile152=) http://identifiers.org/clinvar/355114 ^@ NM_000493.3(COL10A1):c.71G>A (p.Arg24Gln) http://identifiers.org/clinvar/352743 ^@ NM_001017995.2(SH3PXD2B):c.*3365A>G http://identifiers.org/clinvar/352747 ^@ NM_001017995.2(SH3PXD2B):c.*3273G>T http://identifiers.org/clinvar/352751 ^@ NM_001017995.2(SH3PXD2B):c.*2991T>G http://identifiers.org/clinvar/349113 ^@ NM_006947.3(SRP72):c.20G>A (p.Gly7Glu) http://identifiers.org/clinvar/349115 ^@ NM_006947.3(SRP72):c.23G>A (p.Gly8Glu) http://identifiers.org/clinvar/349086 ^@ NM_147127.4(EVC2):c.1346G>A (p.Arg449Gln) http://identifiers.org/clinvar/352755 ^@ NM_001017995.2(SH3PXD2B):c.*2798T>C http://identifiers.org/clinvar/349090 ^@ NM_147127.4(EVC2):c.1154T>C (p.Ile385Thr) http://identifiers.org/clinvar/349112 ^@ NM_006947.3(SRP72):c.19G>T (p.Gly7Trp) http://identifiers.org/clinvar/349122 ^@ NM_006947.3(SRP72):c.686A>G (p.His229Arg) http://identifiers.org/clinvar/352756 ^@ NM_001017995.2(SH3PXD2B):c.*2783A>G http://identifiers.org/clinvar/352762 ^@ NM_001017995.2(SH3PXD2B):c.*2127A>C http://identifiers.org/clinvar/349116 ^@ NM_006947.3(SRP72):c.37G>T (p.Ala13Ser) http://identifiers.org/clinvar/352766 ^@ NM_001017995.2(SH3PXD2B):c.*1839dupA http://identifiers.org/clinvar/355116 ^@ NM_000493.3(COL10A1):c.-16+7G>A http://identifiers.org/clinvar/352768 ^@ NM_001017995.2(SH3PXD2B):c.*1683T>C http://identifiers.org/clinvar/349117 ^@ NM_006947.3(SRP72):c.58C>T (p.Arg20Trp) http://identifiers.org/clinvar/355119 ^@ NM_001010892.2(RSPH4A):c.930C>T (p.Asn310=) http://identifiers.org/clinvar/355124 ^@ NM_001010892.2(RSPH4A):c.1990C>T (p.Pro664Ser) http://identifiers.org/clinvar/355133 ^@ NM_002667.4(PLN):c.-150G>A http://identifiers.org/clinvar/349121 ^@ NM_006947.3(SRP72):c.406G>A (p.Val136Ile) http://identifiers.org/clinvar/349123 ^@ NM_006947.3(SRP72):c.789A>G (p.Leu263=) http://identifiers.org/clinvar/352780 ^@ NM_001017995.2(SH3PXD2B):c.*958G>A http://identifiers.org/clinvar/352781 ^@ NM_001017995.2(SH3PXD2B):c.*957C>T http://identifiers.org/clinvar/349129 ^@ NM_006947.3(SRP72):c.1640+6dupA http://identifiers.org/clinvar/349126 ^@ NM_006947.3(SRP72):c.1225-6G>A http://identifiers.org/clinvar/349127 ^@ NM_006947.3(SRP72):c.1380T>C (p.Tyr460=) http://identifiers.org/clinvar/349131 ^@ NM_006947.3(SRP72):c.1671A>G (p.Lys557=) http://identifiers.org/clinvar/355137 ^@ NM_002667.4(PLN):c.*89A>G http://identifiers.org/clinvar/352783 ^@ NM_001017995.2(SH3PXD2B):c.*843G>A http://identifiers.org/clinvar/355141 ^@ NM_002667.4(PLN):c.*397T>G http://identifiers.org/clinvar/352784 ^@ NM_001017995.2(SH3PXD2B):c.*789T>A http://identifiers.org/clinvar/352786 ^@ NM_001017995.2(SH3PXD2B):c.*708G>A http://identifiers.org/clinvar/352796 ^@ NM_001017995.2(SH3PXD2B):c.*306C>A http://identifiers.org/clinvar/349132 ^@ NM_006947.3(SRP72):c.1698T>C (p.Tyr566=) http://identifiers.org/clinvar/355145 ^@ NM_002667.4(PLN):c.*840_*841delCT http://identifiers.org/clinvar/352797 ^@ NM_001017995.2(SH3PXD2B):c.*294C>A http://identifiers.org/clinvar/355149 ^@ NM_002667.4(PLN):c.*1135C>T http://identifiers.org/clinvar/352798 ^@ NM_001017995.2(SH3PXD2B):c.*235T>C http://identifiers.org/clinvar/349140 ^@ NM_006947.3(SRP72):c.*194G>A http://identifiers.org/clinvar/349142 ^@ NM_006947.3(SRP72):c.*227G>A http://identifiers.org/clinvar/352804 ^@ NM_001017995.2(SH3PXD2B):c.2124C>T (p.Arg708=) http://identifiers.org/clinvar/355156 ^@ NM_000165.4(GJA1):c.-135C>T http://identifiers.org/clinvar/352806 ^@ NM_001017995.2(SH3PXD2B):c.1956G>A (p.Thr652=) http://identifiers.org/clinvar/352808 ^@ NM_001017995.2(SH3PXD2B):c.1638G>A (p.Thr546=) http://identifiers.org/clinvar/355157 ^@ NM_000165.4(GJA1):c.-67C>G http://identifiers.org/clinvar/355164 ^@ NM_000165.4(GJA1):c.*47A>G http://identifiers.org/clinvar/349148 ^@ NM_006947.3(SRP72):c.*618_*621dupATAT http://identifiers.org/clinvar/349150 ^@ NM_006947.3(SRP72):c.*622_*649del28 http://identifiers.org/clinvar/349159 ^@ NM_006947.3(SRP72):c.*1227_*1232delCTCTGA http://identifiers.org/clinvar/355168 ^@ NM_000165.4(GJA1):c.*191G>A http://identifiers.org/clinvar/349091 ^@ NM_147127.4(EVC2):c.1059C>T (p.Gly353=) http://identifiers.org/clinvar/355170 ^@ NM_000165.4(GJA1):c.*243A>G http://identifiers.org/clinvar/352810 ^@ NM_001017995.2(SH3PXD2B):c.1543G>A (p.Asp515Asn) http://identifiers.org/clinvar/352817 ^@ NM_001017995.2(SH3PXD2B):c.997G>A (p.Gly333Ser) http://identifiers.org/clinvar/352821 ^@ NM_001017995.2(SH3PXD2B):c.667+14C>A http://identifiers.org/clinvar/349092 ^@ NM_147127.4(EVC2):c.889C>G (p.Leu297Val) http://identifiers.org/clinvar/352828 ^@ NM_001017995.2(SH3PXD2B):c.76-4G>A http://identifiers.org/clinvar/349093 ^@ NM_147127.4(EVC2):c.814C>T (p.Arg272Trp) http://identifiers.org/clinvar/349104 ^@ NM_153717.2(EVC):c.-35C>A http://identifiers.org/clinvar/352836 ^@ NM_002449.4(MSX2):c.-17C>G http://identifiers.org/clinvar/352838 ^@ NM_002449.4(MSX2):c.699G>A (p.Ala233=) http://identifiers.org/clinvar/349106 ^@ NM_153717.2(EVC):c.248C>T (p.Ser83Leu) http://identifiers.org/clinvar/355171 ^@ NM_000165.4(GJA1):c.*285A>T http://identifiers.org/clinvar/349107 ^@ NM_153717.2(EVC):c.388C>T (p.Leu130=) http://identifiers.org/clinvar/349128 ^@ NM_006947.3(SRP72):c.1410A>G (p.Leu470=) http://identifiers.org/clinvar/349110 ^@ NM_153717.2(EVC):c.532G>A (p.Val178Ile) http://identifiers.org/clinvar/355184 ^@ NM_000165.4(GJA1):c.*1077T>C http://identifiers.org/clinvar/355185 ^@ NM_000165.4(GJA1):c.*1101T>C http://identifiers.org/clinvar/349165 ^@ NM_153717.2(EVC):c.802-12C>T http://identifiers.org/clinvar/355187 ^@ NM_006073.3(TRDN):c.*2141T>C http://identifiers.org/clinvar/349167 ^@ NM_153717.2(EVC):c.920C>G (p.Ser307Cys) http://identifiers.org/clinvar/355191 ^@ NM_006073.3(TRDN):c.*1909T>C http://identifiers.org/clinvar/355192 ^@ NM_006073.3(TRDN):c.*1903G>T http://identifiers.org/clinvar/349134 ^@ NM_006947.3(SRP72):c.1803G>A (p.Gly601=) http://identifiers.org/clinvar/349136 ^@ NM_006947.3(SRP72):c.*24G>A http://identifiers.org/clinvar/349144 ^@ NM_006947.3(SRP72):c.*386G>A http://identifiers.org/clinvar/349176 ^@ NM_153717.2(EVC):c.1369G>A (p.Glu457Lys) http://identifiers.org/clinvar/349179 ^@ NM_153717.2(EVC):c.1463A>G (p.Glu488Gly) http://identifiers.org/clinvar/352841 ^@ NM_002449.4(MSX2):c.*144C>T http://identifiers.org/clinvar/352842 ^@ NM_002449.4(MSX2):c.*172G>A http://identifiers.org/clinvar/352844 ^@ NM_002449.4(MSX2):c.*289A>G http://identifiers.org/clinvar/352850 ^@ NM_002449.4(MSX2):c.*526T>C http://identifiers.org/clinvar/355193 ^@ NM_006073.3(TRDN):c.*1877_*1878delAT http://identifiers.org/clinvar/355196 ^@ NM_006073.3(TRDN):c.*1711A>C http://identifiers.org/clinvar/352851 ^@ NM_002449.4(MSX2):c.*530A>G http://identifiers.org/clinvar/352856 ^@ NM_002449.4(MSX2):c.*863A>G http://identifiers.org/clinvar/355205 ^@ NM_006073.3(TRDN):c.*416A>G http://identifiers.org/clinvar/355207 ^@ NM_006073.3(TRDN):c.*62G>A http://identifiers.org/clinvar/352858 ^@ NM_002449.4(MSX2):c.*1006dupA http://identifiers.org/clinvar/355212 ^@ NM_006073.3(TRDN):c.1765C>A (p.Pro589Thr) http://identifiers.org/clinvar/349147 ^@ NM_006947.3(SRP72):c.*558T>C http://identifiers.org/clinvar/349151 ^@ NM_006947.3(SRP72):c.*651_*652dupTA http://identifiers.org/clinvar/352859 ^@ NM_002449.4(MSX2):c.*1007T>A http://identifiers.org/clinvar/355214 ^@ NM_006073.3(TRDN):c.1511G>A (p.Gly504Asp) http://identifiers.org/clinvar/352863 ^@ NM_002449.4(MSX2):c.*1146T>C http://identifiers.org/clinvar/355215 ^@ NM_006073.3(TRDN):c.1421-15G>A http://identifiers.org/clinvar/355219 ^@ NM_006073.3(TRDN):c.727A>G (p.Thr243Ala) http://identifiers.org/clinvar/355222 ^@ NM_006073.3(TRDN):c.485-13T>C http://identifiers.org/clinvar/349158 ^@ NM_006947.3(SRP72):c.*972G>A http://identifiers.org/clinvar/349160 ^@ NM_006947.3(SRP72):c.*1313C>G http://identifiers.org/clinvar/349094 ^@ NM_147127.4(EVC2):c.692A>G (p.Lys231Arg) http://identifiers.org/clinvar/355225 ^@ NM_006073.3(TRDN):c.233-15_233-13delTTT http://identifiers.org/clinvar/355223 ^@ NM_006073.3(TRDN):c.233-13delT http://identifiers.org/clinvar/349095 ^@ NM_147127.4(EVC2):c.615G>A (p.Leu205=) http://identifiers.org/clinvar/349096 ^@ NM_147127.4(EVC2):c.550C>T (p.Arg184Cys) http://identifiers.org/clinvar/349180 ^@ NM_153717.2(EVC):c.1523A>G (p.Glu508Gly) http://identifiers.org/clinvar/355230 ^@ NM_006073.3(TRDN):c.-26A>G http://identifiers.org/clinvar/349108 ^@ NM_153717.2(EVC):c.409C>A (p.Pro137Thr) http://identifiers.org/clinvar/355232 ^@ NM_006073.3(TRDN):c.-236T>C http://identifiers.org/clinvar/352864 ^@ NM_002449.4(MSX2):c.*1176G>C http://identifiers.org/clinvar/349125 ^@ NM_153717.2(EVC):c.677C>T (p.Thr226Met) http://identifiers.org/clinvar/352873 ^@ NM_022455.4(NSD1):c.1063+10dupG http://identifiers.org/clinvar/355235 ^@ NM_000426.3(LAMA2):c.-89_-87delGCT http://identifiers.org/clinvar/355238 ^@ NM_000426.3(LAMA2):c.61C>G (p.Gln21Glu) http://identifiers.org/clinvar/349181 ^@ NM_153717.2(EVC):c.1528G>A (p.Val510Ile) http://identifiers.org/clinvar/355239 ^@ NM_000426.3(LAMA2):c.98C>A (p.Ala33Glu) http://identifiers.org/clinvar/349170 ^@ NM_153717.2(EVC):c.982C>T (p.Leu328Phe) http://identifiers.org/clinvar/349171 ^@ NM_153717.2(EVC):c.1075G>A (p.Asp359Asn) http://identifiers.org/clinvar/349182 ^@ NM_153717.2(EVC):c.1564-6C>T http://identifiers.org/clinvar/355241 ^@ NM_000426.3(LAMA2):c.194T>C (p.Met65Thr) http://identifiers.org/clinvar/355242 ^@ NM_000426.3(LAMA2):c.237G>A (p.Arg79=) http://identifiers.org/clinvar/349172 ^@ NM_153717.2(EVC):c.1145T>C (p.Ile382Thr) http://identifiers.org/clinvar/349173 ^@ NM_153717.2(EVC):c.1258G>A (p.Glu420Lys) http://identifiers.org/clinvar/349174 ^@ NM_153717.2(EVC):c.1313G>A (p.Arg438Gln) http://identifiers.org/clinvar/355245 ^@ NM_000426.3(LAMA2):c.819+7T>C http://identifiers.org/clinvar/355248 ^@ NM_000426.3(LAMA2):c.1373G>A (p.Arg458Lys) http://identifiers.org/clinvar/349186 ^@ NM_153717.2(EVC):c.1797G>A (p.Ala599=) http://identifiers.org/clinvar/352874 ^@ NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys) http://identifiers.org/clinvar/355249 ^@ NM_000426.3(LAMA2):c.1467+12A>G http://identifiers.org/clinvar/355251 ^@ NM_000426.3(LAMA2):c.1550A>T (p.Glu517Val) http://identifiers.org/clinvar/355252 ^@ NM_000426.3(LAMA2):c.1558T>C (p.Cys520Arg) http://identifiers.org/clinvar/355256 ^@ NM_000426.3(LAMA2):c.2149A>G (p.Ile717Val) http://identifiers.org/clinvar/349175 ^@ NM_153717.2(EVC):c.1333A>C (p.Lys445Gln) http://identifiers.org/clinvar/349183 ^@ NM_153717.2(EVC):c.1636A>G (p.Met546Val) http://identifiers.org/clinvar/349184 ^@ NM_153717.2(EVC):c.1696G>A (p.Ala566Thr) http://identifiers.org/clinvar/355258 ^@ NM_000426.3(LAMA2):c.2527C>T (p.Arg843Cys) http://identifiers.org/clinvar/352876 ^@ NM_022455.4(NSD1):c.2208T>C (p.Ser736=) http://identifiers.org/clinvar/352882 ^@ NM_022455.4(NSD1):c.3502A>T (p.Thr1168Ser) http://identifiers.org/clinvar/352883 ^@ NM_022455.4(NSD1):c.3540A>G (p.Lys1180=) http://identifiers.org/clinvar/355260 ^@ NM_000426.3(LAMA2):c.2714A>G (p.Tyr905Cys) http://identifiers.org/clinvar/355261 ^@ NM_000426.3(LAMA2):c.2857-13C>T http://identifiers.org/clinvar/349189 ^@ NM_153717.2(EVC):c.1852G>A (p.Gly618Ser) http://identifiers.org/clinvar/349191 ^@ NM_153717.2(EVC):c.1956C>T (p.Arg652=) http://identifiers.org/clinvar/352887 ^@ NM_022455.4(NSD1):c.4187C>T (p.Thr1396Met) http://identifiers.org/clinvar/355262 ^@ NM_000426.3(LAMA2):c.3086G>A (p.Arg1029Gln) http://identifiers.org/clinvar/349193 ^@ NM_153717.2(EVC):c.2102C>T (p.Ala701Val) http://identifiers.org/clinvar/349194 ^@ NM_153717.2(EVC):c.2104C>T (p.Arg702Cys) http://identifiers.org/clinvar/355263 ^@ NM_000426.3(LAMA2):c.3304C>T (p.Arg1102Cys) http://identifiers.org/clinvar/355265 ^@ NM_000426.3(LAMA2):c.3555+10G>A http://identifiers.org/clinvar/349195 ^@ NM_153717.2(EVC):c.2241G>A (p.Ala747=) http://identifiers.org/clinvar/355269 ^@ NM_000426.3(LAMA2):c.4222C>G (p.Arg1408Gly) http://identifiers.org/clinvar/355270 ^@ NM_000426.3(LAMA2):c.4697G>A (p.Arg1566His) http://identifiers.org/clinvar/355274 ^@ NM_000426.3(LAMA2):c.4993G>A (p.Gly1665Arg) http://identifiers.org/clinvar/349185 ^@ NM_153717.2(EVC):c.1722C>T (p.Arg574=) http://identifiers.org/clinvar/349190 ^@ NM_153717.2(EVC):c.1878C>T (p.Leu626=) http://identifiers.org/clinvar/349198 ^@ NM_153717.2(EVC):c.2305-5C>G http://identifiers.org/clinvar/349206 ^@ NM_153717.2(EVC):c.2562-4C>G http://identifiers.org/clinvar/352899 ^@ NM_022455.4(NSD1):c.*800G>A http://identifiers.org/clinvar/352906 ^@ NM_022455.4(NSD1):c.*1220T>C http://identifiers.org/clinvar/352907 ^@ NM_022455.4(NSD1):c.*1421C>A http://identifiers.org/clinvar/352908 ^@ NM_022455.4(NSD1):c.*1542A>G http://identifiers.org/clinvar/349199 ^@ NM_153717.2(EVC):c.2341G>A (p.Val781Met) http://identifiers.org/clinvar/355275 ^@ NM_000426.3(LAMA2):c.5072-3C>A http://identifiers.org/clinvar/349203 ^@ NM_153717.2(EVC):c.2415G>T (p.Glu805Asp) http://identifiers.org/clinvar/355277 ^@ NM_000426.3(LAMA2):c.5360G>C (p.Trp1787Ser) http://identifiers.org/clinvar/355280 ^@ NM_000426.3(LAMA2):c.5558T>G (p.Ile1853Arg) http://identifiers.org/clinvar/349204 ^@ NM_153717.2(EVC):c.2449+8delA http://identifiers.org/clinvar/355283 ^@ NM_000426.3(LAMA2):c.5893G>A (p.Glu1965Lys) http://identifiers.org/clinvar/355285 ^@ NM_000426.3(LAMA2):c.6206A>G (p.Tyr2069Cys) http://identifiers.org/clinvar/349207 ^@ NM_153717.2(EVC):c.2562-3C>T http://identifiers.org/clinvar/352912 ^@ NM_022455.4(NSD1):c.*1870G>A http://identifiers.org/clinvar/352915 ^@ NM_022455.4(NSD1):c.*2281T>G http://identifiers.org/clinvar/355291 ^@ NM_000426.3(LAMA2):c.6739G>C (p.Ala2247Pro) http://identifiers.org/clinvar/355296 ^@ NM_000426.3(LAMA2):c.7466T>C (p.Leu2489Pro) http://identifiers.org/clinvar/355298 ^@ NM_000426.3(LAMA2):c.7640G>A (p.Gly2547Glu) http://identifiers.org/clinvar/349215 ^@ NM_153717.2(EVC):c.2961G>A (p.Lys987=) http://identifiers.org/clinvar/355300 ^@ NM_000426.3(LAMA2):c.7762A>G (p.Ile2588Val) http://identifiers.org/clinvar/349208 ^@ NM_153717.2(EVC):c.2740C>T (p.Leu914Phe) http://identifiers.org/clinvar/349209 ^@ NM_153717.2(EVC):c.2752A>G (p.Lys918Glu) http://identifiers.org/clinvar/355302 ^@ NM_000426.3(LAMA2):c.8464T>C (p.Leu2822=) http://identifiers.org/clinvar/349211 ^@ NM_153717.2(EVC):c.2872G>A (p.Asp958Asn) http://identifiers.org/clinvar/349213 ^@ NM_153717.2(EVC):c.2895-10_2895-9delCT http://identifiers.org/clinvar/355304 ^@ NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile) http://identifiers.org/clinvar/349216 ^@ NM_153717.2(EVC):c.*53T>C http://identifiers.org/clinvar/355309 ^@ NM_000426.3(LAMA2):c.*57A>C http://identifiers.org/clinvar/352923 ^@ NM_022455.4(NSD1):c.*3340T>C http://identifiers.org/clinvar/352926 ^@ NM_022455.4(NSD1):c.*3805G>A http://identifiers.org/clinvar/349217 ^@ NM_153717.2(EVC):c.*104G>A http://identifiers.org/clinvar/355310 ^@ NM_000426.3(LAMA2):c.*62_*65dupAATA http://identifiers.org/clinvar/349218 ^@ NM_153717.2(EVC):c.*198G>A http://identifiers.org/clinvar/349221 ^@ NM_153717.2(EVC):c.*263T>C http://identifiers.org/clinvar/355312 ^@ NM_000426.3(LAMA2):c.*193_*195delATA http://identifiers.org/clinvar/349223 ^@ NM_153717.2(EVC):c.*302G>A http://identifiers.org/clinvar/355314 ^@ NM_000045.3(ARG1):c.-70A>G http://identifiers.org/clinvar/352932 ^@ NM_022455.4(NSD1):c.*4175G>A http://identifiers.org/clinvar/352936 ^@ NM_022455.4(NSD1):c.*4360T>G http://identifiers.org/clinvar/349229 ^@ NM_153717.2(EVC):c.*748T>C http://identifiers.org/clinvar/355317 ^@ NM_000045.3(ARG1):c.57G>A (p.Gln19=) http://identifiers.org/clinvar/349219 ^@ NM_153717.2(EVC):c.*210C>A http://identifiers.org/clinvar/355330 ^@ NM_006208.2(ENPP1):c.313+8_313+9insTT http://identifiers.org/clinvar/352939 ^@ NM_022455.4(NSD1):c.*4539A>G http://identifiers.org/clinvar/352943 ^@ NM_022455.4(NSD1):c.*4611delC http://identifiers.org/clinvar/352952 ^@ NM_003052.4(SLC34A1):c.-11G>C http://identifiers.org/clinvar/349230 ^@ NM_153717.2(EVC):c.*820C>T http://identifiers.org/clinvar/355327 ^@ NM_006208.2(ENPP1):c.313+9_313+10insGGTG http://identifiers.org/clinvar/349222 ^@ NM_153717.2(EVC):c.*274C>G http://identifiers.org/clinvar/349224 ^@ NM_153717.2(EVC):c.*367C>T http://identifiers.org/clinvar/349231 ^@ NM_153717.2(EVC):c.*869A>G http://identifiers.org/clinvar/349234 ^@ NM_153717.2(EVC):c.*908G>A http://identifiers.org/clinvar/349247 ^@ NM_153717.2(EVC):c.*1395C>T http://identifiers.org/clinvar/349252 ^@ NM_153717.2(EVC):c.*1515A>T http://identifiers.org/clinvar/355336 ^@ NM_006208.2(ENPP1):c.313+10T>G http://identifiers.org/clinvar/355334 ^@ NM_006208.2(ENPP1):c.313+41_313+46delGTGTGT http://identifiers.org/clinvar/349233 ^@ NM_153717.2(EVC):c.*907C>T http://identifiers.org/clinvar/349238 ^@ NM_153717.2(EVC):c.*1069A>G http://identifiers.org/clinvar/355338 ^@ NM_006208.2(ENPP1):c.802T>C (p.Tyr268His) http://identifiers.org/clinvar/349239 ^@ NM_153717.2(EVC):c.*1083T>G http://identifiers.org/clinvar/352953 ^@ NM_003052.4(SLC34A1):c.25G>T (p.Gly9Trp) http://identifiers.org/clinvar/352957 ^@ NM_003052.4(SLC34A1):c.260-14C>T http://identifiers.org/clinvar/355341 ^@ NM_006208.2(ENPP1):c.1329T>C (p.Asp443=) http://identifiers.org/clinvar/355346 ^@ NM_006208.2(ENPP1):c.2089G>A (p.Val697Met) http://identifiers.org/clinvar/352958 ^@ NM_003052.4(SLC34A1):c.260-4C>A http://identifiers.org/clinvar/352963 ^@ NM_003052.4(SLC34A1):c.654G>A (p.Ala218=) http://identifiers.org/clinvar/352964 ^@ NM_003052.4(SLC34A1):c.741C>A (p.Ile247=) http://identifiers.org/clinvar/349258 ^@ NM_153717.2(EVC):c.*1845delT http://identifiers.org/clinvar/355347 ^@ NM_006208.2(ENPP1):c.2101-11delT http://identifiers.org/clinvar/349241 ^@ NM_153717.2(EVC):c.*1185A>G http://identifiers.org/clinvar/349260 ^@ NM_153717.2(EVC):c.*1871C>T http://identifiers.org/clinvar/349263 ^@ NM_153717.2(EVC):c.*2125T>G http://identifiers.org/clinvar/355351 ^@ NM_006208.2(ENPP1):c.2230+13C>T http://identifiers.org/clinvar/352966 ^@ NM_003052.4(SLC34A1):c.782G>A (p.Arg261His) http://identifiers.org/clinvar/352967 ^@ NM_003052.4(SLC34A1):c.883T>A (p.Ser295Thr) http://identifiers.org/clinvar/352972 ^@ NM_003052.4(SLC34A1):c.1469C>T (p.Pro490Leu) http://identifiers.org/clinvar/349242 ^@ NM_153717.2(EVC):c.*1218C>T http://identifiers.org/clinvar/355353 ^@ NM_006208.2(ENPP1):c.2661A>G (p.Ala887=) http://identifiers.org/clinvar/355354 ^@ NM_006208.2(ENPP1):c.2757A>T (p.Pro919=) http://identifiers.org/clinvar/355358 ^@ NM_006208.2(ENPP1):c.*121G>C http://identifiers.org/clinvar/349248 ^@ NM_153717.2(EVC):c.*1403C>T http://identifiers.org/clinvar/349250 ^@ NM_153717.2(EVC):c.*1439C>T http://identifiers.org/clinvar/349251 ^@ NM_153717.2(EVC):c.*1512T>C http://identifiers.org/clinvar/355362 ^@ NM_006208.2(ENPP1):c.*459G>T http://identifiers.org/clinvar/352974 ^@ NM_003052.4(SLC34A1):c.1635C>T (p.Gly545=) http://identifiers.org/clinvar/352980 ^@ NM_003052.4(SLC34A1):c.*202A>C http://identifiers.org/clinvar/352987 ^@ NM_000505.3(F12):c.1299C>T (p.Asn433=) http://identifiers.org/clinvar/352989 ^@ NM_000505.3(F12):c.1251-7C>T http://identifiers.org/clinvar/352993 ^@ NM_000505.3(F12):c.1025C>T (p.Pro342Leu) http://identifiers.org/clinvar/349266 ^@ NM_153717.2(EVC):c.*2268G>A http://identifiers.org/clinvar/349270 ^@ NM_153717.2(EVC):c.*2349T>C http://identifiers.org/clinvar/349256 ^@ NM_153717.2(EVC):c.*1684A>G http://identifiers.org/clinvar/349257 ^@ NM_153717.2(EVC):c.*1700C>T http://identifiers.org/clinvar/349261 ^@ NM_153717.2(EVC):c.*1981A>G http://identifiers.org/clinvar/349267 ^@ NM_153717.2(EVC):c.*2277G>C http://identifiers.org/clinvar/349273 ^@ NM_153717.2(EVC):c.*2465C>T http://identifiers.org/clinvar/349278 ^@ NM_153717.2(EVC):c.*2686G>A http://identifiers.org/clinvar/349269 ^@ NM_153717.2(EVC):c.*2310G>A http://identifiers.org/clinvar/349272 ^@ NM_153717.2(EVC):c.*2417T>C http://identifiers.org/clinvar/349279 ^@ NM_153717.2(EVC):c.*2708G>A http://identifiers.org/clinvar/349289 ^@ NM_000283.3(PDE6B):c.170C>T (p.Thr57Met) http://identifiers.org/clinvar/355377 ^@ NM_006208.2(ENPP1):c.*1091A>C http://identifiers.org/clinvar/355379 ^@ NM_006208.2(ENPP1):c.*1122A>G http://identifiers.org/clinvar/349296 ^@ NM_006005.3(WFS1):c.-130C>T http://identifiers.org/clinvar/349299 ^@ NM_006005.3(WFS1):c.-105T>G http://identifiers.org/clinvar/349301 ^@ NM_006005.3(WFS1):c.-55C>G http://identifiers.org/clinvar/349276 ^@ NM_153717.2(EVC):c.*2617G>A http://identifiers.org/clinvar/355380 ^@ NM_006208.2(ENPP1):c.*1137T>C http://identifiers.org/clinvar/349280 ^@ NM_153717.2(EVC):c.*2713C>T http://identifiers.org/clinvar/349305 ^@ NM_006005.3(WFS1):c.132C>T (p.Pro44=) http://identifiers.org/clinvar/355397 ^@ NM_006208.2(ENPP1):c.*1960C>T http://identifiers.org/clinvar/349306 ^@ NM_006005.3(WFS1):c.168C>T (p.Asp56=) http://identifiers.org/clinvar/352994 ^@ NM_000505.3(F12):c.1018+13G>C http://identifiers.org/clinvar/355401 ^@ NM_006208.2(ENPP1):c.*2129T>C http://identifiers.org/clinvar/349282 ^@ NM_153717.2(EVC):c.*2922A>C http://identifiers.org/clinvar/352998 ^@ NM_000505.3(F12):c.756C>T (p.Ala252=) http://identifiers.org/clinvar/353009 ^@ NM_006261.4(PROP1):c.*354G>A http://identifiers.org/clinvar/355413 ^@ NM_006208.2(ENPP1):c.*3176T>A http://identifiers.org/clinvar/349284 ^@ NM_153717.2(EVC):c.*3165T>C http://identifiers.org/clinvar/349319 ^@ NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile) http://identifiers.org/clinvar/349323 ^@ NM_006005.3(WFS1):c.2157C>T (p.Ala719=) http://identifiers.org/clinvar/355420 ^@ NM_006208.2(ENPP1):c.*3594C>T http://identifiers.org/clinvar/353010 ^@ NM_006261.4(PROP1):c.*123T>C http://identifiers.org/clinvar/353014 ^@ NM_006261.4(PROP1):c.335G>A (p.Arg112Gln) http://identifiers.org/clinvar/353015 ^@ NM_006261.4(PROP1):c.109+13C>T http://identifiers.org/clinvar/349334 ^@ NM_006005.3(WFS1):c.*90G>A http://identifiers.org/clinvar/349341 ^@ NM_006005.3(WFS1):c.*258A>G http://identifiers.org/clinvar/349342 ^@ NM_006005.3(WFS1):c.*274A>G http://identifiers.org/clinvar/349345 ^@ NM_006005.3(WFS1):c.*356_*357insTT http://identifiers.org/clinvar/353021 ^@ NM_006261.4(PROP1):c.-302G>A http://identifiers.org/clinvar/355422 ^@ NM_006208.2(ENPP1):c.*3625G>A http://identifiers.org/clinvar/353022 ^@ NM_017838.3(NHP2):c.*40A>G http://identifiers.org/clinvar/349285 ^@ NM_153717.2(EVC):c.*3170T>C http://identifiers.org/clinvar/355424 ^@ NM_006208.2(ENPP1):c.*3724C>T http://identifiers.org/clinvar/355425 ^@ NM_006208.2(ENPP1):c.*3784T>C http://identifiers.org/clinvar/355426 ^@ NM_006208.2(ENPP1):c.*3837T>C http://identifiers.org/clinvar/349286 ^@ NM_000283.3(PDE6B):c.117G>T (p.Gly39=) http://identifiers.org/clinvar/349287 ^@ NM_000283.3(PDE6B):c.123G>A (p.Pro41=) http://identifiers.org/clinvar/353023 ^@ NM_017838.3(NHP2):c.336+15G>A http://identifiers.org/clinvar/349350 ^@ NM_006005.3(WFS1):c.*512C>T http://identifiers.org/clinvar/355435 ^@ NM_172105.3(EYA4):c.-430T>C http://identifiers.org/clinvar/355437 ^@ NM_172105.3(EYA4):c.-356T>C http://identifiers.org/clinvar/349351 ^@ NM_006005.3(WFS1):c.*520G>A http://identifiers.org/clinvar/349356 ^@ NM_006005.3(WFS1):c.*637T>C http://identifiers.org/clinvar/349294 ^@ NM_006005.3(WFS1):c.-141A>G http://identifiers.org/clinvar/355438 ^@ NM_172105.3(EYA4):c.-256C>T http://identifiers.org/clinvar/349360 ^@ NM_006005.3(WFS1):c.*700C>A http://identifiers.org/clinvar/349308 ^@ NM_000283.3(PDE6B):c.482G>A (p.Ser161Asn) http://identifiers.org/clinvar/349312 ^@ NM_000283.3(PDE6B):c.682C>A (p.Leu228Ile) http://identifiers.org/clinvar/349313 ^@ NM_000283.3(PDE6B):c.698C>T (p.Thr233Met) http://identifiers.org/clinvar/353027 ^@ NM_017838.3(NHP2):c.160+10A>T http://identifiers.org/clinvar/355440 ^@ NM_172105.3(EYA4):c.-124C>T http://identifiers.org/clinvar/355444 ^@ NM_172105.3(EYA4):c.888G>A (p.Ser296=) http://identifiers.org/clinvar/353033 ^@ NM_017838.3(NHP2):c.-131C>A http://identifiers.org/clinvar/353034 ^@ NM_014244.4(ADAMTS2):c.*2952T>A http://identifiers.org/clinvar/353035 ^@ NM_014244.4(ADAMTS2):c.*2951_*2952delGTinsAA http://identifiers.org/clinvar/349295 ^@ NM_006005.3(WFS1):c.-133G>T http://identifiers.org/clinvar/349314 ^@ NM_000283.3(PDE6B):c.699G>A (p.Thr233=) http://identifiers.org/clinvar/349298 ^@ NM_006005.3(WFS1):c.-106A>G http://identifiers.org/clinvar/349302 ^@ NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) http://identifiers.org/clinvar/349372 ^@ NM_000283.3(PDE6B):c.1108-9C>T http://identifiers.org/clinvar/355448 ^@ NM_172105.3(EYA4):c.*23C>T http://identifiers.org/clinvar/349379 ^@ NM_000283.3(PDE6B):c.1426G>A (p.Glu476Lys) http://identifiers.org/clinvar/355450 ^@ NM_172105.3(EYA4):c.*726C>A http://identifiers.org/clinvar/353040 ^@ NM_014244.4(ADAMTS2):c.*2853G>A http://identifiers.org/clinvar/349303 ^@ NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) http://identifiers.org/clinvar/355453 ^@ NM_172105.3(EYA4):c.*1264T>A http://identifiers.org/clinvar/349304 ^@ NM_006005.3(WFS1):c.115G>A (p.Glu39Lys) http://identifiers.org/clinvar/353048 ^@ NM_014244.4(ADAMTS2):c.*2396C>T http://identifiers.org/clinvar/353053 ^@ NM_014244.4(ADAMTS2):c.*2064A>G http://identifiers.org/clinvar/349381 ^@ NM_000283.3(PDE6B):c.1592G>A (p.Arg531Gln) http://identifiers.org/clinvar/353062 ^@ NM_014244.4(ADAMTS2):c.*1573A>C http://identifiers.org/clinvar/355455 ^@ NM_172105.3(EYA4):c.*1434A>G http://identifiers.org/clinvar/355458 ^@ NM_172105.3(EYA4):c.*1744G>A http://identifiers.org/clinvar/355459 ^@ NM_172105.3(EYA4):c.*1812G>T http://identifiers.org/clinvar/349320 ^@ NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) http://identifiers.org/clinvar/349322 ^@ NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) http://identifiers.org/clinvar/349332 ^@ NM_006005.3(WFS1):c.*47T>C http://identifiers.org/clinvar/349336 ^@ NM_006005.3(WFS1):c.*131C>T http://identifiers.org/clinvar/349343 ^@ NM_006005.3(WFS1):c.*288C>T http://identifiers.org/clinvar/355462 ^@ NM_172105.3(EYA4):c.*2010A>G http://identifiers.org/clinvar/355464 ^@ NM_172105.3(EYA4):c.*2184A>T http://identifiers.org/clinvar/355465 ^@ NM_172105.3(EYA4):c.*2188T>A http://identifiers.org/clinvar/355470 ^@ NM_172105.3(EYA4):c.*2479delC http://identifiers.org/clinvar/349383 ^@ NM_000283.3(PDE6B):c.1945A>G (p.Asn649Asp) http://identifiers.org/clinvar/349384 ^@ NM_000283.3(PDE6B):c.2073C>T (p.Asp691=) http://identifiers.org/clinvar/349385 ^@ NM_000283.3(PDE6B):c.2091G>A (p.Glu697=) http://identifiers.org/clinvar/353065 ^@ NM_014244.4(ADAMTS2):c.*1446dupG http://identifiers.org/clinvar/349348 ^@ NM_006005.3(WFS1):c.*366_*369delTTTT http://identifiers.org/clinvar/349389 ^@ NM_000283.3(PDE6B):c.2269-11C>T http://identifiers.org/clinvar/349390 ^@ NM_000283.3(PDE6B):c.2289G>A (p.Lys763=) http://identifiers.org/clinvar/353066 ^@ NM_014244.4(ADAMTS2):c.*1437_*1438delGG http://identifiers.org/clinvar/353068 ^@ NM_014244.4(ADAMTS2):c.*1247C>T http://identifiers.org/clinvar/349352 ^@ NM_006005.3(WFS1):c.*526A>C http://identifiers.org/clinvar/355473 ^@ NM_172105.3(EYA4):c.*2660T>C http://identifiers.org/clinvar/349353 ^@ NM_006005.3(WFS1):c.*567C>G http://identifiers.org/clinvar/349391 ^@ NM_000283.3(PDE6B):c.2293G>C (p.Ala765Pro) http://identifiers.org/clinvar/349394 ^@ NM_000283.3(PDE6B):c.2352+3G>A http://identifiers.org/clinvar/349397 ^@ NM_000283.3(PDE6B):c.2505A>G (p.Val835=) http://identifiers.org/clinvar/355481 ^@ NM_017651.4(AHI1):c.*1317A>G http://identifiers.org/clinvar/353073 ^@ NM_014244.4(ADAMTS2):c.*842T>C http://identifiers.org/clinvar/349405 ^@ NM_000283.3(PDE6B):c.*191C>A http://identifiers.org/clinvar/349354 ^@ NM_006005.3(WFS1):c.*604G>C http://identifiers.org/clinvar/355484 ^@ NM_017651.4(AHI1):c.*1055_*1058delATTT http://identifiers.org/clinvar/349355 ^@ NM_006005.3(WFS1):c.*605T>C http://identifiers.org/clinvar/349357 ^@ NM_006005.3(WFS1):c.*654G>A http://identifiers.org/clinvar/353077 ^@ NM_014244.4(ADAMTS2):c.*353C>T http://identifiers.org/clinvar/355486 ^@ NM_017651.4(AHI1):c.*588A>G http://identifiers.org/clinvar/353078 ^@ NM_014244.4(ADAMTS2):c.*288G>A http://identifiers.org/clinvar/349309 ^@ NM_000283.3(PDE6B):c.483C>T (p.Ser161=) http://identifiers.org/clinvar/355487 ^@ NM_017651.4(AHI1):c.*500_*504delAATCC http://identifiers.org/clinvar/355495 ^@ NM_017651.4(AHI1):c.3542G>A (p.Arg1181Gln) http://identifiers.org/clinvar/355499 ^@ NM_017651.4(AHI1):c.2784A>T (p.Glu928Asp) http://identifiers.org/clinvar/353083 ^@ NM_014244.4(ADAMTS2):c.3529C>T (p.Pro1177Ser) http://identifiers.org/clinvar/355503 ^@ NM_017651.4(AHI1):c.2357A>G (p.His786Arg) http://identifiers.org/clinvar/355508 ^@ NM_017651.4(AHI1):c.1627-6A>G http://identifiers.org/clinvar/355519 ^@ NM_000288.3(PEX7):c.-91G>A http://identifiers.org/clinvar/349406 ^@ NM_000283.3(PDE6B):c.*271G>A http://identifiers.org/clinvar/349410 ^@ NM_000283.3(PDE6B):c.*414C>T http://identifiers.org/clinvar/353091 ^@ NM_014244.4(ADAMTS2):c.3078C>T (p.Gly1026=) http://identifiers.org/clinvar/355521 ^@ NM_000288.3(PEX7):c.-77T>C http://identifiers.org/clinvar/355524 ^@ NM_000288.3(PEX7):c.-28G>A http://identifiers.org/clinvar/353097 ^@ NM_014244.4(ADAMTS2):c.2811G>A (p.Val937=) http://identifiers.org/clinvar/353098 ^@ NM_014244.4(ADAMTS2):c.2797A>G (p.Thr933Ala) http://identifiers.org/clinvar/353099 ^@ NM_014244.4(ADAMTS2):c.2751-4G>A http://identifiers.org/clinvar/355529 ^@ NM_000288.3(PEX7):c.188+3A>G http://identifiers.org/clinvar/353106 ^@ NM_014244.4(ADAMTS2):c.2292C>T (p.Ala764=) http://identifiers.org/clinvar/353112 ^@ NM_014244.4(ADAMTS2):c.2109C>T (p.Ile703=) http://identifiers.org/clinvar/353114 ^@ NM_014244.4(ADAMTS2):c.2036G>T (p.Arg679Leu) http://identifiers.org/clinvar/353119 ^@ NM_014244.4(ADAMTS2):c.1803G>A (p.Ser601=) http://identifiers.org/clinvar/353120 ^@ NM_014244.4(ADAMTS2):c.1644A>G (p.Gly548=) http://identifiers.org/clinvar/349362 ^@ NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) http://identifiers.org/clinvar/349364 ^@ NM_000283.3(PDE6B):c.852+12G>A http://identifiers.org/clinvar/355536 ^@ NM_000288.3(PEX7):c.941A>G (p.Tyr314Cys) http://identifiers.org/clinvar/355542 ^@ NM_000288.3(PEX7):c.*305C>A http://identifiers.org/clinvar/353121 ^@ NM_014244.4(ADAMTS2):c.1458C>T (p.Tyr486=) http://identifiers.org/clinvar/353124 ^@ NM_014244.4(ADAMTS2):c.1164G>A (p.Pro388=) http://identifiers.org/clinvar/349413 ^@ NM_000283.3(PDE6B):c.*561C>T http://identifiers.org/clinvar/349370 ^@ NM_000283.3(PDE6B):c.1060-13G>A http://identifiers.org/clinvar/355545 ^@ NM_000288.3(PEX7):c.*367T>C http://identifiers.org/clinvar/355548 ^@ NM_000416.2(IFNGR1):c.*217T>A http://identifiers.org/clinvar/353125 ^@ NM_014244.4(ADAMTS2):c.1123G>A (p.Gly375Ser) http://identifiers.org/clinvar/353134 ^@ NM_014244.4(ADAMTS2):c.733G>A (p.Val245Ile) http://identifiers.org/clinvar/349414 ^@ NM_000283.3(PDE6B):c.*592A>G http://identifiers.org/clinvar/349388 ^@ NM_000283.3(PDE6B):c.2174C>T (p.Pro725Leu) http://identifiers.org/clinvar/355550 ^@ NM_000416.2(IFNGR1):c.*128G>T http://identifiers.org/clinvar/355554 ^@ NM_000416.2(IFNGR1):c.1050T>G (p.Ser350=) http://identifiers.org/clinvar/349395 ^@ NM_000283.3(PDE6B):c.2352+13C>T http://identifiers.org/clinvar/355557 ^@ NM_000416.2(IFNGR1):c.596A>G (p.Gln199Arg) http://identifiers.org/clinvar/355558 ^@ NM_000416.2(IFNGR1):c.588C>T (p.Asp196=) http://identifiers.org/clinvar/349398 ^@ NM_000283.3(PDE6B):c.2526C>T (p.Gly842=) http://identifiers.org/clinvar/355567 ^@ NM_003630.2(PEX3):c.-247T>C http://identifiers.org/clinvar/355568 ^@ NM_003630.2(PEX3):c.-214G>C http://identifiers.org/clinvar/349416 ^@ NM_000283.3(PDE6B):c.*764G>A http://identifiers.org/clinvar/349421 ^@ NM_000406.2(GNRHR):c.*2496G>A http://identifiers.org/clinvar/349402 ^@ NM_000283.3(PDE6B):c.*21C>T http://identifiers.org/clinvar/349423 ^@ NM_000406.2(GNRHR):c.*2166G>A http://identifiers.org/clinvar/353141 ^@ NM_014244.4(ADAMTS2):c.534+9G>C http://identifiers.org/clinvar/349427 ^@ NM_000406.2(GNRHR):c.*2031dupT http://identifiers.org/clinvar/355571 ^@ NM_003630.2(PEX3):c.-175G>C http://identifiers.org/clinvar/349428 ^@ NM_000406.2(GNRHR):c.*1984T>C http://identifiers.org/clinvar/349430 ^@ NM_000406.2(GNRHR):c.*1892C>A http://identifiers.org/clinvar/349434 ^@ NM_000406.2(GNRHR):c.*1347A>G http://identifiers.org/clinvar/355570 ^@ NM_003630.2(PEX3):c.-175dupG http://identifiers.org/clinvar/353142 ^@ NM_014244.4(ADAMTS2):c.447G>A (p.Glu149=) http://identifiers.org/clinvar/349404 ^@ NM_000283.3(PDE6B):c.*153dupT http://identifiers.org/clinvar/355572 ^@ NM_003630.2(PEX3):c.-148_-147dupCT http://identifiers.org/clinvar/355573 ^@ NM_003630.2(PEX3):c.51C>T (p.Ile17=) http://identifiers.org/clinvar/353146 ^@ NM_014244.4(ADAMTS2):c.95C>T (p.Pro32Leu) http://identifiers.org/clinvar/355577 ^@ NM_003630.2(PEX3):c.887C>T (p.Ala296Val) http://identifiers.org/clinvar/353147 ^@ NM_014244.4(ADAMTS2):c.68_70dupTGC (p.Leu23_Pro24insLeu) http://identifiers.org/clinvar/353151 ^@ NM_003900.4(SQSTM1):c.-35G>C http://identifiers.org/clinvar/349436 ^@ NM_000406.2(GNRHR):c.*1260G>T http://identifiers.org/clinvar/355579 ^@ NM_003630.2(PEX3):c.*220G>A http://identifiers.org/clinvar/349437 ^@ NM_000406.2(GNRHR):c.*1248A>C http://identifiers.org/clinvar/355583 ^@ NM_003630.2(PEX3):c.*391G>A http://identifiers.org/clinvar/349408 ^@ NM_000283.3(PDE6B):c.*309T>A http://identifiers.org/clinvar/353154 ^@ NM_003900.4(SQSTM1):c.84C>A (p.Ser28Arg) http://identifiers.org/clinvar/349411 ^@ NM_000283.3(PDE6B):c.*504A>G http://identifiers.org/clinvar/355586 ^@ NM_003630.2(PEX3):c.*573A>G http://identifiers.org/clinvar/355592 ^@ NM_003630.2(PEX3):c.*1305C>T http://identifiers.org/clinvar/349447 ^@ NM_000406.2(GNRHR):c.*730T>C http://identifiers.org/clinvar/355595 ^@ NM_003764.3(STX11):c.-140C>T http://identifiers.org/clinvar/349424 ^@ NM_000406.2(GNRHR):c.*2165A>G http://identifiers.org/clinvar/349433 ^@ NM_000406.2(GNRHR):c.*1575delC http://identifiers.org/clinvar/349435 ^@ NM_000406.2(GNRHR):c.*1295dupA http://identifiers.org/clinvar/353155 ^@ NM_003900.4(SQSTM1):c.165C>A (p.Phe55Leu) http://identifiers.org/clinvar/349451 ^@ NM_000406.2(GNRHR):c.*349A>C http://identifiers.org/clinvar/349438 ^@ NM_000406.2(GNRHR):c.*1193C>T http://identifiers.org/clinvar/355597 ^@ NM_003764.3(STX11):c.24_26delTCT (p.Leu9del) http://identifiers.org/clinvar/349440 ^@ NM_000406.2(GNRHR):c.*1144A>G http://identifiers.org/clinvar/355605 ^@ NM_003764.3(STX11):c.*2A>T http://identifiers.org/clinvar/349452 ^@ NM_000406.2(GNRHR):c.773T>C (p.Ile258Thr) http://identifiers.org/clinvar/349454 ^@ NM_000406.2(GNRHR):c.648C>T (p.Phe216=) http://identifiers.org/clinvar/353157 ^@ NM_003900.4(SQSTM1):c.183C>T (p.Gly61=) http://identifiers.org/clinvar/355611 ^@ NM_003764.3(STX11):c.*882T>C http://identifiers.org/clinvar/355616 ^@ NM_003764.3(STX11):c.*1221dupA http://identifiers.org/clinvar/353159 ^@ NM_003900.4(SQSTM1):c.316C>T (p.Arg106Trp) http://identifiers.org/clinvar/353164 ^@ NM_003900.4(SQSTM1):c.912G>A (p.Thr304=) http://identifiers.org/clinvar/353166 ^@ NM_003900.4(SQSTM1):c.959G>A (p.Gly320Glu) http://identifiers.org/clinvar/349441 ^@ NM_000406.2(GNRHR):c.*832T>C http://identifiers.org/clinvar/355620 ^@ NM_003764.3(STX11):c.*1335G>A http://identifiers.org/clinvar/349443 ^@ NM_000406.2(GNRHR):c.*819A>T http://identifiers.org/clinvar/349444 ^@ NM_000406.2(GNRHR):c.*809C>T http://identifiers.org/clinvar/355621 ^@ NM_003764.3(STX11):c.*1338C>T http://identifiers.org/clinvar/355622 ^@ NM_003764.3(STX11):c.*1425C>T http://identifiers.org/clinvar/349445 ^@ NM_000406.2(GNRHR):c.*806G>C http://identifiers.org/clinvar/353172 ^@ NM_003900.4(SQSTM1):c.*259G>A http://identifiers.org/clinvar/349455 ^@ NM_000406.2(GNRHR):c.523-15delT http://identifiers.org/clinvar/349457 ^@ NM_000406.2(GNRHR):c.-62G>A http://identifiers.org/clinvar/349460 ^@ NM_000406.2(GNRHR):c.-224A>G http://identifiers.org/clinvar/355629 ^@ NM_003764.3(STX11):c.*1692C>T http://identifiers.org/clinvar/353173 ^@ NM_003900.4(SQSTM1):c.*260C>T http://identifiers.org/clinvar/349461 ^@ NM_000406.2(GNRHR):c.-507_-503delAGAAA http://identifiers.org/clinvar/353181 ^@ NM_003900.4(SQSTM1):c.*1111G>C http://identifiers.org/clinvar/355632 ^@ NM_003764.3(STX11):c.*2014delC http://identifiers.org/clinvar/355636 ^@ NM_003764.3(STX11):c.*2389G>A http://identifiers.org/clinvar/355638 ^@ NM_003764.3(STX11):c.*2663_*2665delTTC http://identifiers.org/clinvar/349463 ^@ NM_000406.2(GNRHR):c.-576G>T http://identifiers.org/clinvar/349464 ^@ NM_000406.2(GNRHR):c.-683T>G http://identifiers.org/clinvar/349468 ^@ NM_000406.2(GNRHR):c.-904A>G http://identifiers.org/clinvar/355643 ^@ NM_003764.3(STX11):c.*3040_*3043delATAA http://identifiers.org/clinvar/355649 ^@ NM_003764.3(STX11):c.*3298T>A http://identifiers.org/clinvar/349453 ^@ NM_000406.2(GNRHR):c.743-9A>G http://identifiers.org/clinvar/349466 ^@ NM_000406.2(GNRHR):c.-731C>T http://identifiers.org/clinvar/349470 ^@ NM_000406.2(GNRHR):c.-927C>T http://identifiers.org/clinvar/349472 ^@ NM_000406.2(GNRHR):c.-980G>A http://identifiers.org/clinvar/349473 ^@ NM_000406.2(GNRHR):c.-991A>G http://identifiers.org/clinvar/349474 ^@ NM_000406.2(GNRHR):c.-1059G>C http://identifiers.org/clinvar/349476 ^@ NM_000406.2(GNRHR):c.-1239T>A http://identifiers.org/clinvar/355654 ^@ NM_003764.3(STX11):c.*3705C>G http://identifiers.org/clinvar/349477 ^@ NM_000406.2(GNRHR):c.-1255T>C http://identifiers.org/clinvar/349480 ^@ NM_000406.2(GNRHR):c.-1319C>T http://identifiers.org/clinvar/349481 ^@ NM_000406.2(GNRHR):c.-1434A>T http://identifiers.org/clinvar/349491 ^@ NM_031889.2(ENAM):c.-111A>T http://identifiers.org/clinvar/349498 ^@ NM_031889.2(ENAM):c.1103G>A (p.Arg368His) http://identifiers.org/clinvar/349482 ^@ NM_000406.2(GNRHR):c.-1497C>T http://identifiers.org/clinvar/349500 ^@ NM_031889.2(ENAM):c.1945G>A (p.Val649Ile) http://identifiers.org/clinvar/349501 ^@ NM_031889.2(ENAM):c.2172G>A (p.Pro724=) http://identifiers.org/clinvar/355656 ^@ NM_003764.3(STX11):c.*3761G>A http://identifiers.org/clinvar/355658 ^@ NM_003764.3(STX11):c.*3855A>G http://identifiers.org/clinvar/355663 ^@ NM_003764.3(STX11):c.*4146C>T http://identifiers.org/clinvar/349483 ^@ NM_000406.2(GNRHR):c.-1533delT http://identifiers.org/clinvar/355670 ^@ NM_203395.2(IYD):c.-108C>T http://identifiers.org/clinvar/355671 ^@ NM_203395.2(IYD):c.-104T>A http://identifiers.org/clinvar/349505 ^@ NM_031889.2(ENAM):c.2749A>C (p.Lys917Gln) http://identifiers.org/clinvar/355675 ^@ NM_203395.2(IYD):c.628C>T (p.His210Tyr) http://identifiers.org/clinvar/355679 ^@ NM_203395.2(IYD):c.811G>A (p.Glu271Lys) http://identifiers.org/clinvar/353184 ^@ NM_003900.4(SQSTM1):c.*1235T>C http://identifiers.org/clinvar/353198 ^@ NM_004168.3(SDHA):c.-84dupC http://identifiers.org/clinvar/353199 ^@ NM_004168.3(SDHA):c.-63G>A http://identifiers.org/clinvar/353214 ^@ NM_016180.4(SLC45A2):c.1090G>A (p.Glu364Lys) http://identifiers.org/clinvar/349506 ^@ NM_031889.2(ENAM):c.2998C>G (p.Gln1000Glu) http://identifiers.org/clinvar/355683 ^@ NM_203395.2(IYD):c.*41G>A http://identifiers.org/clinvar/353217 ^@ NM_016180.4(SLC45A2):c.1032+9C>T http://identifiers.org/clinvar/349509 ^@ NM_031889.2(ENAM):c.3310C>A (p.Gln1104Lys) http://identifiers.org/clinvar/355687 ^@ NM_203395.2(IYD):c.*240G>T http://identifiers.org/clinvar/355710 ^@ NM_203395.2(IYD):c.*1198T>G http://identifiers.org/clinvar/353231 ^@ NM_014324.5(AMACR):c.*1622T>C http://identifiers.org/clinvar/355713 ^@ NM_203395.2(IYD):c.*1417T>G http://identifiers.org/clinvar/353235 ^@ NM_014324.5(AMACR):c.*1181G>A http://identifiers.org/clinvar/353239 ^@ NM_014324.5(AMACR):c.*982C>T http://identifiers.org/clinvar/353240 ^@ NM_014324.5(AMACR):c.*976G>A http://identifiers.org/clinvar/353245 ^@ NM_014324.5(AMACR):c.*617G>T http://identifiers.org/clinvar/355714 ^@ NM_203395.2(IYD):c.*1535T>C http://identifiers.org/clinvar/355716 ^@ NM_203395.2(IYD):c.*1615G>A http://identifiers.org/clinvar/349489 ^@ NM_031889.2(ENAM):c.-123G>A http://identifiers.org/clinvar/349490 ^@ NM_031889.2(ENAM):c.-112A>G http://identifiers.org/clinvar/349493 ^@ NM_031889.2(ENAM):c.584G>T (p.Gly195Val) http://identifiers.org/clinvar/349502 ^@ NM_031889.2(ENAM):c.2241C>T (p.Tyr747=) http://identifiers.org/clinvar/349503 ^@ NM_031889.2(ENAM):c.2573C>T (p.Ser858Leu) http://identifiers.org/clinvar/349504 ^@ NM_031889.2(ENAM):c.2686T>A (p.Tyr896Asn) http://identifiers.org/clinvar/349507 ^@ NM_031889.2(ENAM):c.3007G>A (p.Glu1003Lys) http://identifiers.org/clinvar/353247 ^@ NM_014324.5(AMACR):c.*540T>C http://identifiers.org/clinvar/353251 ^@ NM_014324.5(AMACR):c.937G>A (p.Gly313Ser) http://identifiers.org/clinvar/349508 ^@ NM_031889.2(ENAM):c.3277C>T (p.Pro1093Ser) http://identifiers.org/clinvar/349510 ^@ NM_031889.2(ENAM):c.3400G>T (p.Val1134Leu) http://identifiers.org/clinvar/353252 ^@ NM_014324.5(AMACR):c.889G>A (p.Val297Ile) http://identifiers.org/clinvar/353255 ^@ NM_014324.5(AMACR):c.353G>A (p.Arg118Gln) http://identifiers.org/clinvar/355720 ^@ NM_203395.2(IYD):c.*1701G>A http://identifiers.org/clinvar/355723 ^@ NM_203395.2(IYD):c.*1754G>A http://identifiers.org/clinvar/353260 ^@ NM_002185.3(IL7R):c.111C>T (p.Asp37=) http://identifiers.org/clinvar/353262 ^@ NM_002185.3(IL7R):c.359A>T (p.Lys120Ile) http://identifiers.org/clinvar/353265 ^@ NM_002185.3(IL7R):c.491T>A (p.Met164Lys) http://identifiers.org/clinvar/349511 ^@ NM_031889.2(ENAM):c.*69T>A http://identifiers.org/clinvar/349521 ^@ NM_031889.2(ENAM):c.*985C>T http://identifiers.org/clinvar/349526 ^@ NM_031889.2(ENAM):c.*1635G>C http://identifiers.org/clinvar/355724 ^@ NM_203395.2(IYD):c.*1762G>A http://identifiers.org/clinvar/349517 ^@ NM_031889.2(ENAM):c.*488delT http://identifiers.org/clinvar/355728 ^@ NM_203395.2(IYD):c.*1970A>G http://identifiers.org/clinvar/355735 ^@ NM_203395.2(IYD):c.*2392G>A http://identifiers.org/clinvar/355736 ^@ NM_203395.2(IYD):c.*2393T>C http://identifiers.org/clinvar/349518 ^@ NM_031889.2(ENAM):c.*584A>T http://identifiers.org/clinvar/349520 ^@ NM_031889.2(ENAM):c.*687G>C http://identifiers.org/clinvar/349530 ^@ NM_003759.3(SLC4A4):c.-79T>C http://identifiers.org/clinvar/349527 ^@ NM_031889.2(ENAM):c.*1799T>C http://identifiers.org/clinvar/355743 ^@ NM_203395.2(IYD):c.*2814T>C http://identifiers.org/clinvar/349528 ^@ NM_031889.2(ENAM):c.*1829G>A http://identifiers.org/clinvar/355750 ^@ NM_203395.2(IYD):c.*3094A>G http://identifiers.org/clinvar/355754 ^@ NM_203395.2(IYD):c.*3533C>T http://identifiers.org/clinvar/355759 ^@ NM_203395.2(IYD):c.*4035G>A http://identifiers.org/clinvar/353267 ^@ NM_002185.3(IL7R):c.695A>G (p.Asn232Ser) http://identifiers.org/clinvar/353272 ^@ NM_002185.3(IL7R):c.*342_*345dupAAAG http://identifiers.org/clinvar/349531 ^@ NM_003759.3(SLC4A4):c.70T>A (p.Phe24Ile) http://identifiers.org/clinvar/355760 ^@ NM_203395.2(IYD):c.*4243A>G http://identifiers.org/clinvar/349540 ^@ NM_003759.3(SLC4A4):c.882C>T (p.His294=) http://identifiers.org/clinvar/355761 ^@ NM_203395.2(IYD):c.*4295G>A http://identifiers.org/clinvar/349534 ^@ NM_003759.3(SLC4A4):c.379A>G (p.Met127Val) http://identifiers.org/clinvar/349535 ^@ NM_003759.3(SLC4A4):c.388C>T (p.Arg130Trp) http://identifiers.org/clinvar/349541 ^@ NM_003759.3(SLC4A4):c.1000A>C (p.Ile334Leu) http://identifiers.org/clinvar/355763 ^@ NM_203395.2(IYD):c.*4382A>G http://identifiers.org/clinvar/355767 ^@ NM_203395.2(IYD):c.*4691A>C http://identifiers.org/clinvar/349542 ^@ NM_003759.3(SLC4A4):c.1103A>G (p.Asn368Ser) http://identifiers.org/clinvar/355769 ^@ NM_203395.2(IYD):c.*5127T>C http://identifiers.org/clinvar/353283 ^@ NM_002185.3(IL7R):c.*862C>T http://identifiers.org/clinvar/353285 ^@ NM_002185.3(IL7R):c.*1079C>A http://identifiers.org/clinvar/353293 ^@ NM_002185.3(IL7R):c.*1548A>T http://identifiers.org/clinvar/353295 ^@ NM_002185.3(IL7R):c.*1614T>C http://identifiers.org/clinvar/353299 ^@ NM_002185.3(IL7R):c.*1902delC http://identifiers.org/clinvar/349547 ^@ NM_003759.3(SLC4A4):c.1810G>A (p.Glu604Lys) http://identifiers.org/clinvar/353302 ^@ NM_002185.3(IL7R):c.*2242C>A http://identifiers.org/clinvar/355772 ^@ NM_203395.2(IYD):c.*5333C>A http://identifiers.org/clinvar/353308 ^@ NM_004172.4(SLC1A3):c.195A>T (p.Gly65=) http://identifiers.org/clinvar/349552 ^@ NM_003759.3(SLC4A4):c.2371C>T (p.Leu791Phe) http://identifiers.org/clinvar/353312 ^@ NM_004172.4(SLC1A3):c.374T>C (p.Val125Ala) http://identifiers.org/clinvar/349555 ^@ NM_003759.3(SLC4A4):c.2632-2dupA http://identifiers.org/clinvar/355775 ^@ NM_203395.2(IYD):c.*5475A>G http://identifiers.org/clinvar/349536 ^@ NM_003759.3(SLC4A4):c.610A>G (p.Met204Val) http://identifiers.org/clinvar/355779 ^@ NM_203395.2(IYD):c.*5657A>G http://identifiers.org/clinvar/355792 ^@ NM_203395.2(IYD):c.*6383A>G http://identifiers.org/clinvar/355803 ^@ NM_033071.3(SYNE1):c.*182G>A http://identifiers.org/clinvar/349543 ^@ NM_003759.3(SLC4A4):c.1125G>A (p.Thr375=) http://identifiers.org/clinvar/349557 ^@ NM_003759.3(SLC4A4):c.2968-3C>T http://identifiers.org/clinvar/355805 ^@ NM_033071.3(SYNE1):c.*101C>T http://identifiers.org/clinvar/353313 ^@ NM_004172.4(SLC1A3):c.601G>A (p.Val201Met) http://identifiers.org/clinvar/355806 ^@ NM_033071.3(SYNE1):c.*95C>T http://identifiers.org/clinvar/349563 ^@ NM_003759.3(SLC4A4):c.*217A>G http://identifiers.org/clinvar/349566 ^@ NM_003759.3(SLC4A4):c.*517G>A http://identifiers.org/clinvar/349567 ^@ NM_003759.3(SLC4A4):c.*628T>G http://identifiers.org/clinvar/349544 ^@ NM_003759.3(SLC4A4):c.1128C>G (p.Pro376=) http://identifiers.org/clinvar/349576 ^@ NM_003759.3(SLC4A4):c.*1202A>G http://identifiers.org/clinvar/349577 ^@ NM_003759.3(SLC4A4):c.*1206A>G http://identifiers.org/clinvar/349580 ^@ NM_003759.3(SLC4A4):c.*1377G>C http://identifiers.org/clinvar/353316 ^@ NM_004172.4(SLC1A3):c.825C>T (p.Asn275=) http://identifiers.org/clinvar/355813 ^@ NM_033071.3(SYNE1):c.24039A>G (p.Glu8013=) http://identifiers.org/clinvar/355818 ^@ NM_033071.3(SYNE1):c.23578-13C>T http://identifiers.org/clinvar/349581 ^@ NM_003759.3(SLC4A4):c.*1407A>C http://identifiers.org/clinvar/355822 ^@ NM_033071.3(SYNE1):c.22928G>A (p.Cys7643Tyr) http://identifiers.org/clinvar/355838 ^@ NM_033071.3(SYNE1):c.20517G>C (p.Leu6839=) http://identifiers.org/clinvar/355843 ^@ NM_033071.3(SYNE1):c.18801G>A (p.Leu6267=) http://identifiers.org/clinvar/349585 ^@ NM_003759.3(SLC4A4):c.*1617C>A http://identifiers.org/clinvar/349586 ^@ NM_003759.3(SLC4A4):c.*1665C>T http://identifiers.org/clinvar/349594 ^@ NM_003759.3(SLC4A4):c.*2281dupT http://identifiers.org/clinvar/349550 ^@ NM_003759.3(SLC4A4):c.2179C>T (p.Pro727Ser) http://identifiers.org/clinvar/355848 ^@ NM_033071.3(SYNE1):c.18402A>G (p.Thr6134=) http://identifiers.org/clinvar/349571 ^@ NM_003759.3(SLC4A4):c.*938G>C http://identifiers.org/clinvar/353318 ^@ NM_004172.4(SLC1A3):c.897G>C (p.Gly299=) http://identifiers.org/clinvar/349598 ^@ NM_003759.3(SLC4A4):c.*2767A>G http://identifiers.org/clinvar/349606 ^@ NM_003759.3(SLC4A4):c.*3469A>G http://identifiers.org/clinvar/349612 ^@ NM_003759.3(SLC4A4):c.*3802C>T http://identifiers.org/clinvar/355849 ^@ NM_033071.3(SYNE1):c.18361-13T>C http://identifiers.org/clinvar/355855 ^@ NM_033071.3(SYNE1):c.16801C>T (p.Arg5601Trp) http://identifiers.org/clinvar/349574 ^@ NM_003759.3(SLC4A4):c.*1028A>G http://identifiers.org/clinvar/349589 ^@ NM_003759.3(SLC4A4):c.*1822delC http://identifiers.org/clinvar/353319 ^@ NM_004172.4(SLC1A3):c.945C>T (p.Ala315=) http://identifiers.org/clinvar/355858 ^@ NM_033071.3(SYNE1):c.16024-10A>T http://identifiers.org/clinvar/355862 ^@ NM_033071.3(SYNE1):c.15739G>A (p.Val5247Met) http://identifiers.org/clinvar/353320 ^@ NM_004172.4(SLC1A3):c.985G>A (p.Ala329Thr) http://identifiers.org/clinvar/353321 ^@ NM_004172.4(SLC1A3):c.1154G>A (p.Arg385His) http://identifiers.org/clinvar/353322 ^@ NM_004172.4(SLC1A3):c.1167C>T (p.Phe389=) http://identifiers.org/clinvar/349590 ^@ NM_003759.3(SLC4A4):c.*1945A>T http://identifiers.org/clinvar/349597 ^@ NM_003759.3(SLC4A4):c.*2365G>A http://identifiers.org/clinvar/349599 ^@ NM_003759.3(SLC4A4):c.*2819A>C http://identifiers.org/clinvar/353324 ^@ NM_004172.4(SLC1A3):c.1284A>C (p.Thr428=) http://identifiers.org/clinvar/355863 ^@ NM_033071.3(SYNE1):c.15402C>T (p.Ile5134=) http://identifiers.org/clinvar/349604 ^@ NM_003759.3(SLC4A4):c.*3080T>C http://identifiers.org/clinvar/355871 ^@ NM_033071.3(SYNE1):c.13773G>A (p.Lys4591=) http://identifiers.org/clinvar/355877 ^@ NM_033071.3(SYNE1):c.13204G>A (p.Glu4402Lys) http://identifiers.org/clinvar/349605 ^@ NM_003759.3(SLC4A4):c.*3370C>T http://identifiers.org/clinvar/353330 ^@ NM_004172.4(SLC1A3):c.*230C>T http://identifiers.org/clinvar/349619 ^@ NM_000477.6(ALB):c.531A>T (p.Glu177Asp) http://identifiers.org/clinvar/349633 ^@ NM_000477.6(ALB):c.1446C>T (p.Asn482=) http://identifiers.org/clinvar/349636 ^@ NM_000477.6(ALB):c.1508A>T (p.Glu503Val) http://identifiers.org/clinvar/353336 ^@ NM_004172.4(SLC1A3):c.*515A>C http://identifiers.org/clinvar/349637 ^@ NM_000477.6(ALB):c.1608T>C (p.Asp536=) http://identifiers.org/clinvar/355886 ^@ NM_033071.3(SYNE1):c.11317A>C (p.Lys3773Gln) http://identifiers.org/clinvar/355891 ^@ NM_033071.3(SYNE1):c.10126A>G (p.Met3376Val) http://identifiers.org/clinvar/355894 ^@ NM_033071.3(SYNE1):c.9912G>A (p.Thr3304=) http://identifiers.org/clinvar/355895 ^@ NM_033071.3(SYNE1):c.9828+14C>G http://identifiers.org/clinvar/349639 ^@ NM_000477.6(ALB):c.1668C>T (p.Leu556=) http://identifiers.org/clinvar/349647 ^@ NM_025074.6(FRAS1):c.-185G>T http://identifiers.org/clinvar/349649 ^@ NM_025074.6(FRAS1):c.-23C>T http://identifiers.org/clinvar/349608 ^@ NM_003759.3(SLC4A4):c.*3615C>T http://identifiers.org/clinvar/355897 ^@ NM_033071.3(SYNE1):c.9767G>C (p.Ser3256Thr) http://identifiers.org/clinvar/349611 ^@ NM_003759.3(SLC4A4):c.*3747G>A http://identifiers.org/clinvar/353337 ^@ NM_004172.4(SLC1A3):c.*552_*553delAA http://identifiers.org/clinvar/349618 ^@ NM_000477.6(ALB):c.323A>G (p.Tyr108Cys) http://identifiers.org/clinvar/349657 ^@ NM_025074.6(FRAS1):c.380C>G (p.Pro127Arg) http://identifiers.org/clinvar/349664 ^@ NM_025074.6(FRAS1):c.641C>T (p.Pro214Leu) http://identifiers.org/clinvar/349622 ^@ NM_000477.6(ALB):c.616-3T>C http://identifiers.org/clinvar/353338 ^@ NM_004172.4(SLC1A3):c.*594G>A http://identifiers.org/clinvar/353339 ^@ NM_004172.4(SLC1A3):c.*617dupA http://identifiers.org/clinvar/349623 ^@ NM_000477.6(ALB):c.891T>C (p.Ser297=) http://identifiers.org/clinvar/355898 ^@ NM_033071.3(SYNE1):c.9672+12G>A http://identifiers.org/clinvar/349626 ^@ NM_000477.6(ALB):c.1073A>G (p.Tyr358Cys) http://identifiers.org/clinvar/355899 ^@ NM_033071.3(SYNE1):c.8592T>C (p.His2864=) http://identifiers.org/clinvar/349670 ^@ NM_025074.6(FRAS1):c.763G>A (p.Ala255Thr) http://identifiers.org/clinvar/349672 ^@ NM_025074.6(FRAS1):c.886G>A (p.Glu296Lys) http://identifiers.org/clinvar/355901 ^@ NM_033071.3(SYNE1):c.8145G>C (p.Glu2715Asp) http://identifiers.org/clinvar/349627 ^@ NM_000477.6(ALB):c.1150T>C (p.Cys384Arg) http://identifiers.org/clinvar/349628 ^@ NM_000477.6(ALB):c.1191+11T>A http://identifiers.org/clinvar/349629 ^@ NM_000477.6(ALB):c.1230T>C (p.Asn410=) http://identifiers.org/clinvar/349673 ^@ NM_025074.6(FRAS1):c.979C>T (p.Arg327Trp) http://identifiers.org/clinvar/349678 ^@ NM_025074.6(FRAS1):c.1486G>T (p.Val496Leu) http://identifiers.org/clinvar/349679 ^@ NM_025074.6(FRAS1):c.1598A>T (p.Asp533Val) http://identifiers.org/clinvar/349635 ^@ NM_000477.6(ALB):c.1479A>G (p.Val493=) http://identifiers.org/clinvar/353341 ^@ NM_004172.4(SLC1A3):c.*761G>A http://identifiers.org/clinvar/349694 ^@ NM_025074.6(FRAS1):c.2313G>T (p.Pro771=) http://identifiers.org/clinvar/349642 ^@ NM_000477.6(ALB):c.*88G>T http://identifiers.org/clinvar/349652 ^@ NM_025074.6(FRAS1):c.160G>C (p.Asp54His) http://identifiers.org/clinvar/355908 ^@ NM_033071.3(SYNE1):c.7734-12C>T http://identifiers.org/clinvar/355909 ^@ NM_033071.3(SYNE1):c.7734-18_7734-13dupTTTTTT http://identifiers.org/clinvar/353344 ^@ NM_004172.4(SLC1A3):c.*1022G>A http://identifiers.org/clinvar/353346 ^@ NM_004172.4(SLC1A3):c.*1081C>T http://identifiers.org/clinvar/353347 ^@ NM_004172.4(SLC1A3):c.*1160T>C http://identifiers.org/clinvar/355913 ^@ NM_033071.3(SYNE1):c.7259-11T>C http://identifiers.org/clinvar/355915 ^@ NM_033071.3(SYNE1):c.7050+15A>G http://identifiers.org/clinvar/349655 ^@ NM_025074.6(FRAS1):c.227T>G (p.Leu76Arg) http://identifiers.org/clinvar/349669 ^@ NM_025074.6(FRAS1):c.727A>G (p.Ile243Val) http://identifiers.org/clinvar/353348 ^@ NM_004172.4(SLC1A3):c.*1206G>A http://identifiers.org/clinvar/355920 ^@ NM_033071.3(SYNE1):c.6042A>G (p.Lys2014=) http://identifiers.org/clinvar/353361 ^@ NM_133433.3(NIPBL):c.-424T>C http://identifiers.org/clinvar/355925 ^@ NM_033071.3(SYNE1):c.4029+15T>C http://identifiers.org/clinvar/353363 ^@ NM_133433.3(NIPBL):c.-410C>T http://identifiers.org/clinvar/349695 ^@ NM_025074.6(FRAS1):c.2328C>T (p.Cys776=) http://identifiers.org/clinvar/355928 ^@ NM_033071.3(SYNE1):c.3691-14delT http://identifiers.org/clinvar/349674 ^@ NM_025074.6(FRAS1):c.981+9C>T http://identifiers.org/clinvar/349676 ^@ NM_025074.6(FRAS1):c.1286C>A (p.Ser429Tyr) http://identifiers.org/clinvar/349680 ^@ NM_025074.6(FRAS1):c.1609G>A (p.Val537Met) http://identifiers.org/clinvar/353365 ^@ NM_133433.3(NIPBL):c.-338C>T http://identifiers.org/clinvar/355931 ^@ NM_033071.3(SYNE1):c.3454A>G (p.Thr1152Ala) http://identifiers.org/clinvar/355933 ^@ NM_033071.3(SYNE1):c.2839G>A (p.Glu947Lys) http://identifiers.org/clinvar/355936 ^@ NM_033071.3(SYNE1):c.2241G>A (p.Met747Ile) http://identifiers.org/clinvar/349696 ^@ NM_025074.6(FRAS1):c.2433C>T (p.His811=) http://identifiers.org/clinvar/349707 ^@ NM_025074.6(FRAS1):c.3951G>A (p.Leu1317=) http://identifiers.org/clinvar/349709 ^@ NM_025074.6(FRAS1):c.4160C>T (p.Ala1387Val) http://identifiers.org/clinvar/353366 ^@ NM_133433.3(NIPBL):c.-312T>A http://identifiers.org/clinvar/349713 ^@ NM_025074.6(FRAS1):c.4557G>A (p.Arg1519=) http://identifiers.org/clinvar/349716 ^@ NM_025074.6(FRAS1):c.4678+5T>C http://identifiers.org/clinvar/349727 ^@ NM_025074.6(FRAS1):c.5788A>G (p.Ile1930Val) http://identifiers.org/clinvar/349729 ^@ NM_025074.6(FRAS1):c.6010+8A>G http://identifiers.org/clinvar/355938 ^@ NM_033071.3(SYNE1):c.1750+14C>T http://identifiers.org/clinvar/349735 ^@ NM_025074.6(FRAS1):c.6301C>T (p.His2101Tyr) http://identifiers.org/clinvar/349682 ^@ NM_025074.6(FRAS1):c.1635C>T (p.Ser545=) http://identifiers.org/clinvar/349683 ^@ NM_025074.6(FRAS1):c.1710C>T (p.Pro570=) http://identifiers.org/clinvar/349738 ^@ NM_025074.6(FRAS1):c.6622C>T (p.Leu2208=) http://identifiers.org/clinvar/355944 ^@ NM_033071.3(SYNE1):c.1140C>T (p.His380=) http://identifiers.org/clinvar/349739 ^@ NM_025074.6(FRAS1):c.6684G>A (p.Gln2228=) http://identifiers.org/clinvar/349741 ^@ NM_025074.6(FRAS1):c.6726G>A (p.Gln2242=) http://identifiers.org/clinvar/349743 ^@ NM_025074.6(FRAS1):c.6754G>A (p.Ala2252Thr) http://identifiers.org/clinvar/355952 ^@ NM_033071.3(SYNE1):c.-49C>T http://identifiers.org/clinvar/349745 ^@ NM_025074.6(FRAS1):c.6932C>T (p.Ser2311Leu) http://identifiers.org/clinvar/349747 ^@ NM_025074.6(FRAS1):c.7029+9A>C http://identifiers.org/clinvar/355954 ^@ NM_033071.3(SYNE1):c.-347C>A http://identifiers.org/clinvar/349752 ^@ NM_025074.6(FRAS1):c.7254A>G (p.Lys2418=) http://identifiers.org/clinvar/353367 ^@ NM_133433.3(NIPBL):c.-307C>T http://identifiers.org/clinvar/355955 ^@ NM_033071.3(SYNE1):c.-352C>T http://identifiers.org/clinvar/355956 ^@ NM_033071.3(SYNE1):c.-361G>T http://identifiers.org/clinvar/355957 ^@ NM_033071.3(SYNE1):c.-400T>C http://identifiers.org/clinvar/353369 ^@ NM_133433.3(NIPBL):c.-243A>C http://identifiers.org/clinvar/353370 ^@ NM_133433.3(NIPBL):c.-153dupC http://identifiers.org/clinvar/353379 ^@ NM_133433.3(NIPBL):c.4041A>G (p.Thr1347=) http://identifiers.org/clinvar/349753 ^@ NM_025074.6(FRAS1):c.7451C>T (p.Thr2484Met) http://identifiers.org/clinvar/353380 ^@ NM_133433.3(NIPBL):c.4374T>G (p.Thr1458=) http://identifiers.org/clinvar/355958 ^@ NM_032122.4(DTNBP1):c.*151_*152dupAA http://identifiers.org/clinvar/353384 ^@ NM_133433.3(NIPBL):c.5709+4G>A http://identifiers.org/clinvar/355961 ^@ NM_032122.4(DTNBP1):c.*2T>C http://identifiers.org/clinvar/349684 ^@ NM_025074.6(FRAS1):c.1722G>T (p.Arg574Ser) http://identifiers.org/clinvar/349689 ^@ NM_025074.6(FRAS1):c.1885C>G (p.Pro629Ala) http://identifiers.org/clinvar/353387 ^@ NM_133433.3(NIPBL):c.6645A>G (p.Leu2215=) http://identifiers.org/clinvar/353391 ^@ NM_133433.3(NIPBL):c.*142G>C http://identifiers.org/clinvar/349690 ^@ NM_025074.6(FRAS1):c.1914G>A (p.Leu638=) http://identifiers.org/clinvar/349699 ^@ NM_025074.6(FRAS1):c.2660C>G (p.Thr887Ser) http://identifiers.org/clinvar/355964 ^@ NM_032122.4(DTNBP1):c.741G>A (p.Ser247=) http://identifiers.org/clinvar/349757 ^@ NM_025074.6(FRAS1):c.7652A>G (p.Gln2551Arg) http://identifiers.org/clinvar/353400 ^@ NM_023073.3(C5orf42):c.*1318A>G http://identifiers.org/clinvar/355967 ^@ NM_032122.4(DTNBP1):c.667+3G>A http://identifiers.org/clinvar/353402 ^@ NM_023073.3(C5orf42):c.*872A>C http://identifiers.org/clinvar/353405 ^@ NM_023073.3(C5orf42):c.*642G>A http://identifiers.org/clinvar/353418 ^@ NM_023073.3(C5orf42):c.8854A>G (p.Arg2952Gly) http://identifiers.org/clinvar/355970 ^@ NM_032122.4(DTNBP1):c.489-8delT http://identifiers.org/clinvar/353420 ^@ NM_023073.3(C5orf42):c.8549A>G (p.Asp2850Gly) http://identifiers.org/clinvar/355969 ^@ NM_032122.4(DTNBP1):c.489-8dupT http://identifiers.org/clinvar/349700 ^@ NM_025074.6(FRAS1):c.2818G>C (p.Glu940Gln) http://identifiers.org/clinvar/349703 ^@ NM_025074.6(FRAS1):c.3124G>A (p.Ala1042Thr) http://identifiers.org/clinvar/355973 ^@ NM_032122.4(DTNBP1):c.355+10A>G http://identifiers.org/clinvar/355979 ^@ NM_004562.2(PRKN):c.*2526_*2527delCA http://identifiers.org/clinvar/355984 ^@ NM_004562.2(PRKN):c.*2443A>G http://identifiers.org/clinvar/349706 ^@ NM_025074.6(FRAS1):c.3286T>C (p.Cys1096Arg) http://identifiers.org/clinvar/349708 ^@ NM_025074.6(FRAS1):c.4009A>G (p.Met1337Val) http://identifiers.org/clinvar/349724 ^@ NM_025074.6(FRAS1):c.5218-9C>T http://identifiers.org/clinvar/353424 ^@ NM_023073.3(C5orf42):c.8377G>C (p.Glu2793Gln) http://identifiers.org/clinvar/349728 ^@ NM_025074.6(FRAS1):c.5865C>T (p.Asn1955=) http://identifiers.org/clinvar/355986 ^@ NM_004562.2(PRKN):c.*2354C>T http://identifiers.org/clinvar/349732 ^@ NM_025074.6(FRAS1):c.6039T>C (p.Ser2013=) http://identifiers.org/clinvar/349759 ^@ NM_025074.6(FRAS1):c.7722G>A (p.Thr2574=) http://identifiers.org/clinvar/349763 ^@ NM_025074.6(FRAS1):c.8125A>G (p.Ile2709Val) http://identifiers.org/clinvar/349764 ^@ NM_025074.6(FRAS1):c.8417C>T (p.Thr2806Met) http://identifiers.org/clinvar/349766 ^@ NM_025074.6(FRAS1):c.8443+8A>G http://identifiers.org/clinvar/353428 ^@ NM_023073.3(C5orf42):c.7901A>G (p.His2634Arg) http://identifiers.org/clinvar/353432 ^@ NM_023073.3(C5orf42):c.7588+8T>C http://identifiers.org/clinvar/355987 ^@ NM_004562.2(PRKN):c.*2217G>A http://identifiers.org/clinvar/355989 ^@ NM_004562.2(PRKN):c.*2022T>C http://identifiers.org/clinvar/349733 ^@ NM_025074.6(FRAS1):c.6124C>T (p.Pro2042Ser) http://identifiers.org/clinvar/353434 ^@ NM_023073.3(C5orf42):c.7438dupA (p.Arg2480Lysfs) http://identifiers.org/clinvar/353436 ^@ NM_023073.3(C5orf42):c.7360G>A (p.Glu2454Lys) http://identifiers.org/clinvar/353439 ^@ NM_023073.3(C5orf42):c.7234-7C>G http://identifiers.org/clinvar/349748 ^@ NM_025074.6(FRAS1):c.7035G>A (p.Glu2345=) http://identifiers.org/clinvar/349776 ^@ NM_025074.6(FRAS1):c.8705C>T (p.Thr2902Ile) http://identifiers.org/clinvar/349762 ^@ NM_025074.6(FRAS1):c.8004C>T (p.Asn2668=) http://identifiers.org/clinvar/355990 ^@ NM_004562.2(PRKN):c.*2021G>A http://identifiers.org/clinvar/356000 ^@ NM_004562.2(PRKN):c.*1252C>T http://identifiers.org/clinvar/353441 ^@ NM_023073.3(C5orf42):c.7095A>G (p.Pro2365=) http://identifiers.org/clinvar/353442 ^@ NM_023073.3(C5orf42):c.6456C>T (p.Asn2152=) http://identifiers.org/clinvar/356006 ^@ NM_004562.2(PRKN):c.*652C>T http://identifiers.org/clinvar/353445 ^@ NM_023073.3(C5orf42):c.5593A>C (p.Asn1865His) http://identifiers.org/clinvar/353446 ^@ NM_023073.3(C5orf42):c.5311T>C (p.Tyr1771His) http://identifiers.org/clinvar/356009 ^@ NM_004562.2(PRKN):c.*314C>A http://identifiers.org/clinvar/356013 ^@ NM_004562.2(PRKN):c.*15C>A http://identifiers.org/clinvar/349777 ^@ NM_025074.6(FRAS1):c.8958+4A>G http://identifiers.org/clinvar/353448 ^@ NM_023073.3(C5orf42):c.5054T>C (p.Ile1685Thr) http://identifiers.org/clinvar/349767 ^@ NM_025074.6(FRAS1):c.8444-15T>C http://identifiers.org/clinvar/349771 ^@ NM_025074.6(FRAS1):c.8574G>A (p.Lys2858=) http://identifiers.org/clinvar/349773 ^@ NM_025074.6(FRAS1):c.8613C>G (p.Thr2871=) http://identifiers.org/clinvar/356015 ^@ NM_004562.2(PRKN):c.1213G>A (p.Ala405Thr) http://identifiers.org/clinvar/356017 ^@ NM_004562.2(PRKN):c.783A>G (p.Leu261=) http://identifiers.org/clinvar/349779 ^@ NM_025074.6(FRAS1):c.8985C>T (p.His2995=) http://identifiers.org/clinvar/349782 ^@ NM_025074.6(FRAS1):c.9183G>A (p.Ala3061=) http://identifiers.org/clinvar/349788 ^@ NM_025074.6(FRAS1):c.9658G>A (p.Gly3220Ser) http://identifiers.org/clinvar/349774 ^@ NM_025074.6(FRAS1):c.8643G>A (p.Pro2881=) http://identifiers.org/clinvar/349775 ^@ NM_025074.6(FRAS1):c.8698G>A (p.Glu2900Lys) http://identifiers.org/clinvar/356026 ^@ NM_003730.4(RNASET2):c.741C>A (p.Phe247Leu) http://identifiers.org/clinvar/356028 ^@ NM_003730.4(RNASET2):c.652G>A (p.Glu218Lys) http://identifiers.org/clinvar/349780 ^@ NM_025074.6(FRAS1):c.9154C>T (p.Arg3052Trp) http://identifiers.org/clinvar/349787 ^@ NM_025074.6(FRAS1):c.9630T>C (p.Ala3210=) http://identifiers.org/clinvar/349789 ^@ NM_025074.6(FRAS1):c.9759A>G (p.Pro3253=) http://identifiers.org/clinvar/349792 ^@ NM_025074.6(FRAS1):c.10002G>A (p.Glu3334=) http://identifiers.org/clinvar/349799 ^@ NM_025074.6(FRAS1):c.10390-5G>A http://identifiers.org/clinvar/353453 ^@ NM_023073.3(C5orf42):c.4306C>T (p.Pro1436Ser) http://identifiers.org/clinvar/349802 ^@ NM_025074.6(FRAS1):c.10494C>T (p.Thr3498=) http://identifiers.org/clinvar/353455 ^@ NM_023073.3(C5orf42):c.3450C>T (p.Phe1150=) http://identifiers.org/clinvar/349804 ^@ NM_025074.6(FRAS1):c.10648+13C>A http://identifiers.org/clinvar/349809 ^@ NM_025074.6(FRAS1):c.10809-12G>T http://identifiers.org/clinvar/349818 ^@ NM_025074.6(FRAS1):c.11690C>T (p.Ala3897Val) http://identifiers.org/clinvar/349819 ^@ NM_025074.6(FRAS1):c.11882G>A (p.Arg3961Gln) http://identifiers.org/clinvar/356031 ^@ NM_003730.4(RNASET2):c.534G>A (p.Val178=) http://identifiers.org/clinvar/356034 ^@ NM_003730.4(RNASET2):c.360C>A (p.Thr120=) http://identifiers.org/clinvar/349791 ^@ NM_025074.6(FRAS1):c.9955C>G (p.Gln3319Glu) http://identifiers.org/clinvar/349796 ^@ NM_025074.6(FRAS1):c.10269G>T (p.Pro3423=) http://identifiers.org/clinvar/349798 ^@ NM_025074.6(FRAS1):c.10390-6C>T http://identifiers.org/clinvar/353456 ^@ NM_023073.3(C5orf42):c.3090G>A (p.Thr1030=) http://identifiers.org/clinvar/356038 ^@ NM_003730.4(RNASET2):c.21C>T (p.Arg7=) http://identifiers.org/clinvar/356041 ^@ NM_003730.4(RNASET2):c.-14C>A http://identifiers.org/clinvar/353458 ^@ NM_023073.3(C5orf42):c.2428T>G (p.Cys810Gly) http://identifiers.org/clinvar/349831 ^@ NM_025074.6(FRAS1):c.*388C>G http://identifiers.org/clinvar/349813 ^@ NM_025074.6(FRAS1):c.11220G>A (p.Thr3740=) http://identifiers.org/clinvar/349827 ^@ NM_025074.6(FRAS1):c.*117C>T http://identifiers.org/clinvar/356053 ^@ NM_003730.4(RNASET2):c.-384G>A http://identifiers.org/clinvar/356067 ^@ NM_198586.2(NHLRC1):c.*358_*361delAGTA http://identifiers.org/clinvar/349829 ^@ NM_025074.6(FRAS1):c.*282A>T http://identifiers.org/clinvar/356071 ^@ NM_198586.2(NHLRC1):c.*326C>T http://identifiers.org/clinvar/356072 ^@ NM_198586.2(NHLRC1):c.*320G>A http://identifiers.org/clinvar/353460 ^@ NM_023073.3(C5orf42):c.1680G>A (p.Glu560=) http://identifiers.org/clinvar/353461 ^@ NM_023073.3(C5orf42):c.1554A>T (p.Arg518Ser) http://identifiers.org/clinvar/353470 ^@ NM_023073.3(C5orf42):c.-151C>T http://identifiers.org/clinvar/353471 ^@ NM_000514.3(GDNF):c.*2883G>A http://identifiers.org/clinvar/356076 ^@ NM_198586.2(NHLRC1):c.*237T>C http://identifiers.org/clinvar/353473 ^@ NM_000514.3(GDNF):c.*2828T>A http://identifiers.org/clinvar/356086 ^@ NM_000367.4(TPMT):c.*1873G>A http://identifiers.org/clinvar/349833 ^@ NM_025074.6(FRAS1):c.*503T>C http://identifiers.org/clinvar/349836 ^@ NM_025074.6(FRAS1):c.*708C>A http://identifiers.org/clinvar/356088 ^@ NM_000367.4(TPMT):c.*1804G>T http://identifiers.org/clinvar/356089 ^@ NM_000367.4(TPMT):c.*1778_*1781dupAAAA http://identifiers.org/clinvar/356090 ^@ NM_000367.4(TPMT):c.*1757delC http://identifiers.org/clinvar/349835 ^@ NM_025074.6(FRAS1):c.*530G>A http://identifiers.org/clinvar/349840 ^@ NM_025074.6(FRAS1):c.*808C>T http://identifiers.org/clinvar/349853 ^@ NM_025074.6(FRAS1):c.*1814G>A http://identifiers.org/clinvar/356094 ^@ NM_000367.4(TPMT):c.*1522C>T http://identifiers.org/clinvar/356100 ^@ NM_000367.4(TPMT):c.*1204G>A http://identifiers.org/clinvar/353484 ^@ NM_000514.3(GDNF):c.*1927C>T http://identifiers.org/clinvar/353489 ^@ NM_000514.3(GDNF):c.*1693G>T http://identifiers.org/clinvar/353493 ^@ NM_000514.3(GDNF):c.*1612C>A http://identifiers.org/clinvar/349841 ^@ NM_025074.6(FRAS1):c.*880C>A http://identifiers.org/clinvar/353502 ^@ NM_000514.3(GDNF):c.*1276A>G http://identifiers.org/clinvar/356104 ^@ NM_000367.4(TPMT):c.*523G>A http://identifiers.org/clinvar/353504 ^@ NM_000514.3(GDNF):c.*1244A>G http://identifiers.org/clinvar/353506 ^@ NM_000514.3(GDNF):c.*1004T>C http://identifiers.org/clinvar/356109 ^@ NM_000367.4(TPMT):c.*329A>G http://identifiers.org/clinvar/356115 ^@ NM_000367.4(TPMT):c.375G>A (p.Ser125=) http://identifiers.org/clinvar/353508 ^@ NM_000514.3(GDNF):c.*958A>C http://identifiers.org/clinvar/356122 ^@ NM_000367.4(TPMT):c.-44-4G>A http://identifiers.org/clinvar/356124 ^@ NM_000367.4(TPMT):c.-66C>T http://identifiers.org/clinvar/356128 ^@ NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) http://identifiers.org/clinvar/349854 ^@ NM_025074.6(FRAS1):c.*1995G>T http://identifiers.org/clinvar/349856 ^@ NM_025074.6(FRAS1):c.*2154C>T http://identifiers.org/clinvar/353509 ^@ NM_000514.3(GDNF):c.*912A>G http://identifiers.org/clinvar/356130 ^@ NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) http://identifiers.org/clinvar/349842 ^@ NM_025074.6(FRAS1):c.*893C>G http://identifiers.org/clinvar/356132 ^@ NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) http://identifiers.org/clinvar/349844 ^@ NM_025074.6(FRAS1):c.*957G>C http://identifiers.org/clinvar/356138 ^@ NM_001080.3(ALDH5A1):c.1082C>T (p.Ala361Val) http://identifiers.org/clinvar/356141 ^@ NM_001080.3(ALDH5A1):c.1375G>T (p.Ala459Ser) http://identifiers.org/clinvar/353510 ^@ NM_000514.3(GDNF):c.*907G>A http://identifiers.org/clinvar/356142 ^@ NM_001080.3(ALDH5A1):c.1402+7G>A http://identifiers.org/clinvar/353511 ^@ NM_000514.3(GDNF):c.*807G>A http://identifiers.org/clinvar/353514 ^@ NM_000514.3(GDNF):c.*529G>A http://identifiers.org/clinvar/353516 ^@ NM_000514.3(GDNF):c.*346C>T http://identifiers.org/clinvar/349858 ^@ NM_025074.6(FRAS1):c.*2324G>A http://identifiers.org/clinvar/356144 ^@ NM_001080.3(ALDH5A1):c.*56C>T http://identifiers.org/clinvar/349862 ^@ NM_025074.6(FRAS1):c.*2512C>T http://identifiers.org/clinvar/356145 ^@ NM_001080.3(ALDH5A1):c.*253C>A http://identifiers.org/clinvar/349845 ^@ NM_025074.6(FRAS1):c.*1085C>T http://identifiers.org/clinvar/349848 ^@ NM_025074.6(FRAS1):c.*1301G>A http://identifiers.org/clinvar/349849 ^@ NM_025074.6(FRAS1):c.*1345C>T http://identifiers.org/clinvar/349863 ^@ NM_025074.6(FRAS1):c.*2672A>G http://identifiers.org/clinvar/349852 ^@ NM_025074.6(FRAS1):c.*1787G>A http://identifiers.org/clinvar/353521 ^@ NM_002310.5(LIFR):c.*6564C>T http://identifiers.org/clinvar/349864 ^@ NM_025074.6(FRAS1):c.*2700G>A http://identifiers.org/clinvar/356146 ^@ NM_001080.3(ALDH5A1):c.*302G>A http://identifiers.org/clinvar/356150 ^@ NM_001080.3(ALDH5A1):c.*550C>T http://identifiers.org/clinvar/349866 ^@ NM_025074.6(FRAS1):c.*2824_*2825insTTTT http://identifiers.org/clinvar/349875 ^@ NM_058172.5(ANTXR2):c.1068C>G (p.Pro356=) http://identifiers.org/clinvar/353527 ^@ NM_002310.5(LIFR):c.*5986T>C http://identifiers.org/clinvar/356152 ^@ NM_001080.3(ALDH5A1):c.*652_*655delAGAA http://identifiers.org/clinvar/349855 ^@ NM_025074.6(FRAS1):c.*2091T>C http://identifiers.org/clinvar/356156 ^@ NM_001080.3(ALDH5A1):c.*942A>G http://identifiers.org/clinvar/349867 ^@ NM_025074.6(FRAS1):c.*2931delA http://identifiers.org/clinvar/349869 ^@ NM_025074.6(FRAS1):c.*3092A>G http://identifiers.org/clinvar/349871 ^@ NM_058172.5(ANTXR2):c.1395G>A (p.Arg465=) http://identifiers.org/clinvar/353529 ^@ NM_002310.5(LIFR):c.*5793C>G http://identifiers.org/clinvar/353539 ^@ NM_002310.5(LIFR):c.*5125C>T http://identifiers.org/clinvar/356163 ^@ NM_001080.3(ALDH5A1):c.*1249T>A http://identifiers.org/clinvar/349877 ^@ NM_058172.5(ANTXR2):c.808G>A (p.Val270Ile) http://identifiers.org/clinvar/356164 ^@ NM_001080.3(ALDH5A1):c.*1267dupA http://identifiers.org/clinvar/349878 ^@ NM_058172.5(ANTXR2):c.796+9C>T http://identifiers.org/clinvar/349881 ^@ NM_058172.5(ANTXR2):c.637-10delT http://identifiers.org/clinvar/349883 ^@ NM_058172.5(ANTXR2):c.331C>T (p.Arg111Cys) http://identifiers.org/clinvar/353541 ^@ NM_002310.5(LIFR):c.*5017A>G http://identifiers.org/clinvar/349896 ^@ NM_058172.5(ANTXR2):c.-410dupG http://identifiers.org/clinvar/349901 ^@ NM_058172.5(ANTXR2):c.-505G>C http://identifiers.org/clinvar/353544 ^@ NM_002310.5(LIFR):c.*4854A>G http://identifiers.org/clinvar/353551 ^@ NM_002310.5(LIFR):c.*4414G>A http://identifiers.org/clinvar/353555 ^@ NM_002310.5(LIFR):c.*4056G>T http://identifiers.org/clinvar/353559 ^@ NM_002310.5(LIFR):c.*3834C>G http://identifiers.org/clinvar/349902 ^@ NM_058172.5(ANTXR2):c.-590A>T http://identifiers.org/clinvar/353560 ^@ NM_002310.5(LIFR):c.*3748T>C http://identifiers.org/clinvar/356168 ^@ NM_001080.3(ALDH5A1):c.*1355C>T http://identifiers.org/clinvar/356172 ^@ NM_001080.3(ALDH5A1):c.*1515C>T http://identifiers.org/clinvar/349903 ^@ NM_058172.5(ANTXR2):c.-714A>T http://identifiers.org/clinvar/353561 ^@ NM_002310.5(LIFR):c.*3639_*3640delTT http://identifiers.org/clinvar/356187 ^@ NM_001080.3(ALDH5A1):c.*2852C>G http://identifiers.org/clinvar/356190 ^@ NM_001080.3(ALDH5A1):c.*3146C>T http://identifiers.org/clinvar/349904 ^@ NM_015697.7(COQ2):c.*348dupT http://identifiers.org/clinvar/349873 ^@ NM_058172.5(ANTXR2):c.1347+9C>T http://identifiers.org/clinvar/356191 ^@ NM_001080.3(ALDH5A1):c.*3224C>G http://identifiers.org/clinvar/349905 ^@ NM_015697.7(COQ2):c.*337A>T http://identifiers.org/clinvar/356194 ^@ NM_000410.3(HFE):c.68G>A (p.Arg23His) http://identifiers.org/clinvar/353562 ^@ NM_002310.5(LIFR):c.*3375A>G http://identifiers.org/clinvar/353563 ^@ NM_002310.5(LIFR):c.*3302T>G http://identifiers.org/clinvar/349888 ^@ NM_058172.5(ANTXR2):c.98C>T (p.Ala33Val) http://identifiers.org/clinvar/356197 ^@ NM_000410.3(HFE):c.*155C>T http://identifiers.org/clinvar/349889 ^@ NM_058172.5(ANTXR2):c.-5G>A http://identifiers.org/clinvar/349898 ^@ NM_058172.5(ANTXR2):c.-441C>T http://identifiers.org/clinvar/356202 ^@ NM_000410.3(HFE):c.*578T>C http://identifiers.org/clinvar/356203 ^@ NM_000410.3(HFE):c.*625C>T http://identifiers.org/clinvar/349911 ^@ NM_015697.7(COQ2):c.*53G>A http://identifiers.org/clinvar/349908 ^@ NM_015697.7(COQ2):c.*232C>G http://identifiers.org/clinvar/353570 ^@ NM_002310.5(LIFR):c.*2567G>A http://identifiers.org/clinvar/349914 ^@ NM_015697.7(COQ2):c.315G>C (p.Gln105His) http://identifiers.org/clinvar/349918 ^@ NM_138982.3(MAPK10):c.*1973G>A http://identifiers.org/clinvar/356204 ^@ NM_000410.3(HFE):c.*746G>T http://identifiers.org/clinvar/356207 ^@ NM_000410.3(HFE):c.*957T>C http://identifiers.org/clinvar/349921 ^@ NM_138982.3(MAPK10):c.*1714C>T http://identifiers.org/clinvar/349942 ^@ NM_138982.3(MAPK10):c.*373C>T http://identifiers.org/clinvar/353574 ^@ NM_002310.5(LIFR):c.*2042A>G http://identifiers.org/clinvar/353575 ^@ NM_002310.5(LIFR):c.*1870G>A http://identifiers.org/clinvar/349948 ^@ NM_138982.3(MAPK10):c.1223G>T (p.Gly408Val) http://identifiers.org/clinvar/349949 ^@ NM_138982.3(MAPK10):c.1080C>T (p.Asn360=) http://identifiers.org/clinvar/349912 ^@ NM_015697.7(COQ2):c.*15C>T http://identifiers.org/clinvar/353576 ^@ NM_002310.5(LIFR):c.*1860T>G http://identifiers.org/clinvar/356214 ^@ NM_001109809.2(ZFP57):c.752G>A (p.Arg251His) http://identifiers.org/clinvar/356218 ^@ NM_001109809.2(ZFP57):c.491G>A (p.Arg164Gln) http://identifiers.org/clinvar/349927 ^@ NM_138982.3(MAPK10):c.*1346C>T http://identifiers.org/clinvar/349928 ^@ NM_138982.3(MAPK10):c.*1285T>G http://identifiers.org/clinvar/353580 ^@ NM_002310.5(LIFR):c.*1610T>G http://identifiers.org/clinvar/356221 ^@ NM_001109809.2(ZFP57):c.277C>G (p.Leu93Val) http://identifiers.org/clinvar/353581 ^@ NM_002310.5(LIFR):c.*1554C>G http://identifiers.org/clinvar/349951 ^@ NM_138982.3(MAPK10):c.426-5_426-3dupTCT http://identifiers.org/clinvar/356224 ^@ NM_000434.3(NEU1):c.*581G>A http://identifiers.org/clinvar/349955 ^@ NM_138982.3(MAPK10):c.236+7G>A http://identifiers.org/clinvar/349963 ^@ NM_138982.3(MAPK10):c.-514A>G http://identifiers.org/clinvar/353589 ^@ NM_002310.5(LIFR):c.*1198C>T http://identifiers.org/clinvar/353595 ^@ NM_002310.5(LIFR):c.*966T>G http://identifiers.org/clinvar/356225 ^@ NM_000434.3(NEU1):c.*524C>T http://identifiers.org/clinvar/356226 ^@ NM_000434.3(NEU1):c.*454A>G http://identifiers.org/clinvar/349970 ^@ NM_004407.3(DMP1):c.205A>T (p.Ser69Cys) http://identifiers.org/clinvar/349975 ^@ NM_004407.3(DMP1):c.658C>A (p.Pro220Thr) http://identifiers.org/clinvar/356228 ^@ NM_000434.3(NEU1):c.*269C>T http://identifiers.org/clinvar/356239 ^@ NM_000434.3(NEU1):c.-76C>G http://identifiers.org/clinvar/356240 ^@ NM_000063.5(C2):c.-145A>C http://identifiers.org/clinvar/349978 ^@ NM_004407.3(DMP1):c.815G>A (p.Arg272His) http://identifiers.org/clinvar/349981 ^@ NM_004407.3(DMP1):c.1023C>T (p.Ser341=) http://identifiers.org/clinvar/353598 ^@ NM_002310.5(LIFR):c.*546A>C http://identifiers.org/clinvar/356242 ^@ NM_000063.5(C2):c.81C>T (p.Asn27=) http://identifiers.org/clinvar/353599 ^@ NM_002310.5(LIFR):c.*394C>A http://identifiers.org/clinvar/349982 ^@ NM_004407.3(DMP1):c.1218C>T (p.Ser406=) http://identifiers.org/clinvar/349985 ^@ NM_004407.3(DMP1):c.1388A>G (p.Lys463Arg) http://identifiers.org/clinvar/353603 ^@ NM_002310.5(LIFR):c.*324G>A http://identifiers.org/clinvar/349929 ^@ NM_138982.3(MAPK10):c.*1273T>A http://identifiers.org/clinvar/353605 ^@ NM_002310.5(LIFR):c.3288C>A (p.Asn1096Lys) http://identifiers.org/clinvar/356243 ^@ NM_000063.5(C2):c.218C>T (p.Pro73Leu) http://identifiers.org/clinvar/356249 ^@ NM_000063.5(C2):c.1414G>A (p.Ala472Thr) http://identifiers.org/clinvar/353607 ^@ NM_002310.5(LIFR):c.3082T>A (p.Tyr1028Asn) http://identifiers.org/clinvar/353613 ^@ NM_002310.5(LIFR):c.2578C>T (p.Arg860Trp) http://identifiers.org/clinvar/353615 ^@ NM_002310.5(LIFR):c.2480T>C (p.Val827Ala) http://identifiers.org/clinvar/349988 ^@ NM_004407.3(DMP1):c.1456A>G (p.Ile486Val) http://identifiers.org/clinvar/356250 ^@ NM_000063.5(C2):c.1450A>G (p.Ile484Val) http://identifiers.org/clinvar/356254 ^@ NM_000063.5(C2):c.1835G>A (p.Ser612Asn) http://identifiers.org/clinvar/349991 ^@ NM_004407.3(DMP1):c.*159T>A http://identifiers.org/clinvar/349997 ^@ NM_004407.3(DMP1):c.*603C>T http://identifiers.org/clinvar/353623 ^@ NM_002310.5(LIFR):c.1776C>G (p.His592Gln) http://identifiers.org/clinvar/356263 ^@ NM_000063.5(C2):c.*120T>C http://identifiers.org/clinvar/353625 ^@ NM_002310.5(LIFR):c.1732G>A (p.Asp578Asn) http://identifiers.org/clinvar/350000 ^@ NM_004407.3(DMP1):c.*757_*758delTT http://identifiers.org/clinvar/350002 ^@ NM_004407.3(DMP1):c.*850G>A http://identifiers.org/clinvar/353633 ^@ NM_002310.5(LIFR):c.247A>G (p.Ile83Val) http://identifiers.org/clinvar/353636 ^@ NM_002310.5(LIFR):c.143-15_143-10delGTGTGT http://identifiers.org/clinvar/353637 ^@ NM_002310.5(LIFR):c.16G>A (p.Val6Ile) http://identifiers.org/clinvar/356265 ^@ NM_000063.5(C2):c.*304A>G http://identifiers.org/clinvar/356266 ^@ NM_001710.5(CFB):c.-186delG http://identifiers.org/clinvar/353639 ^@ NM_002310.5(LIFR):c.-28G>A http://identifiers.org/clinvar/350008 ^@ NM_000297.3(PKD2):c.-68A>G http://identifiers.org/clinvar/353641 ^@ NM_002310.5(LIFR):c.-118G>A http://identifiers.org/clinvar/356268 ^@ NM_001710.5(CFB):c.221G>A (p.Arg74His) http://identifiers.org/clinvar/349931 ^@ NM_138982.3(MAPK10):c.*1146_*1150delAATGA http://identifiers.org/clinvar/356270 ^@ NM_001710.5(CFB):c.321C>T (p.His107=) http://identifiers.org/clinvar/356271 ^@ NM_001710.5(CFB):c.405C>T (p.Tyr135=) http://identifiers.org/clinvar/356274 ^@ NM_001710.5(CFB):c.600C>T (p.Ser200=) http://identifiers.org/clinvar/349937 ^@ NM_138982.3(MAPK10):c.*611G>C http://identifiers.org/clinvar/349940 ^@ NM_138982.3(MAPK10):c.*473T>C http://identifiers.org/clinvar/349941 ^@ NM_138982.3(MAPK10):c.*441C>T http://identifiers.org/clinvar/350014 ^@ NM_000297.3(PKD2):c.356G>A (p.Arg119His) http://identifiers.org/clinvar/349943 ^@ NM_138982.3(MAPK10):c.*265T>G http://identifiers.org/clinvar/356275 ^@ NM_001710.5(CFB):c.604C>T (p.Arg202Trp) http://identifiers.org/clinvar/356279 ^@ NM_001710.5(CFB):c.724A>C (p.Ile242Leu) http://identifiers.org/clinvar/356280 ^@ NM_001710.5(CFB):c.754G>A (p.Gly252Ser) http://identifiers.org/clinvar/349944 ^@ NM_138982.3(MAPK10):c.*201A>G http://identifiers.org/clinvar/353642 ^@ NM_002310.5(LIFR):c.-129T>G http://identifiers.org/clinvar/353643 ^@ NM_002310.5(LIFR):c.-139G>A http://identifiers.org/clinvar/353646 ^@ NM_000436.3(OXCT1):c.*1229C>T http://identifiers.org/clinvar/353647 ^@ NM_000436.3(OXCT1):c.*1077dupA http://identifiers.org/clinvar/353654 ^@ NM_000436.3(OXCT1):c.*138C>A http://identifiers.org/clinvar/356281 ^@ NM_001710.5(CFB):c.858C>T (p.Phe286=) http://identifiers.org/clinvar/356285 ^@ NM_001710.5(CFB):c.1143C>T (p.Arg381=) http://identifiers.org/clinvar/349945 ^@ NM_138982.3(MAPK10):c.*47A>G http://identifiers.org/clinvar/349954 ^@ NM_138982.3(MAPK10):c.367-12A>G http://identifiers.org/clinvar/349956 ^@ NM_138982.3(MAPK10):c.-55C>A http://identifiers.org/clinvar/353655 ^@ NM_000436.3(OXCT1):c.*94A>G http://identifiers.org/clinvar/356286 ^@ NM_001710.5(CFB):c.1227A>G (p.Leu409=) http://identifiers.org/clinvar/356288 ^@ NM_001710.5(CFB):c.1407C>G (p.Ile469Met) http://identifiers.org/clinvar/356294 ^@ NM_001710.5(CFB):c.1889C>T (p.Ala630Val) http://identifiers.org/clinvar/350016 ^@ NM_000297.3(PKD2):c.403G>A (p.Gly135Ser) http://identifiers.org/clinvar/350018 ^@ NM_000297.3(PKD2):c.544G>C (p.Gly182Arg) http://identifiers.org/clinvar/350019 ^@ NM_000297.3(PKD2):c.740A>G (p.Tyr247Cys) http://identifiers.org/clinvar/353664 ^@ NM_000436.3(OXCT1):c.671+3A>G http://identifiers.org/clinvar/349959 ^@ NM_138982.3(MAPK10):c.-102A>G http://identifiers.org/clinvar/353665 ^@ NM_000436.3(OXCT1):c.565-13C>T http://identifiers.org/clinvar/356296 ^@ NM_001710.5(CFB):c.*16A>T http://identifiers.org/clinvar/353669 ^@ NM_000436.3(OXCT1):c.79-11delT http://identifiers.org/clinvar/350023 ^@ NM_000297.3(PKD2):c.1542C>T (p.Ile514=) http://identifiers.org/clinvar/356301 ^@ NM_006929.4(SKIV2L):c.-273G>A http://identifiers.org/clinvar/356310 ^@ NM_006929.4(SKIV2L):c.120G>A (p.Glu40=) http://identifiers.org/clinvar/350025 ^@ NM_000297.3(PKD2):c.2139C>T (p.Val713=) http://identifiers.org/clinvar/356312 ^@ NM_006929.4(SKIV2L):c.254C>T (p.Thr85Met) http://identifiers.org/clinvar/356317 ^@ NM_006929.4(SKIV2L):c.585C>T (p.Asp195=) http://identifiers.org/clinvar/350039 ^@ NM_000297.3(PKD2):c.*512_*513delAA http://identifiers.org/clinvar/356336 ^@ NM_006929.4(SKIV2L):c.2211G>A (p.Pro737=) http://identifiers.org/clinvar/350044 ^@ NM_000297.3(PKD2):c.*837C>G http://identifiers.org/clinvar/350056 ^@ NM_000297.3(PKD2):c.*2000G>A http://identifiers.org/clinvar/353671 ^@ NM_000436.3(OXCT1):c.-60C>G http://identifiers.org/clinvar/356339 ^@ NM_006929.4(SKIV2L):c.2446G>A (p.Glu816Lys) http://identifiers.org/clinvar/353680 ^@ NM_000163.4(GHR):c.273T>A (p.Thr91=) http://identifiers.org/clinvar/356340 ^@ NM_006929.4(SKIV2L):c.2659G>A (p.Asp887Asn) http://identifiers.org/clinvar/350058 ^@ NM_000345.3(SNCA):c.*2330C>T http://identifiers.org/clinvar/349961 ^@ NM_138982.3(MAPK10):c.-378T>C http://identifiers.org/clinvar/356341 ^@ NM_006929.4(SKIV2L):c.2703C>T (p.Leu901=) http://identifiers.org/clinvar/353686 ^@ NM_000163.4(GHR):c.1640C>T (p.Ala547Val) http://identifiers.org/clinvar/356346 ^@ NM_006929.4(SKIV2L):c.3212C>T (p.Ala1071Val) http://identifiers.org/clinvar/349969 ^@ NM_004407.3(DMP1):c.91G>A (p.Glu31Lys) http://identifiers.org/clinvar/356348 ^@ NM_006929.4(SKIV2L):c.3310C>T (p.Arg1104Trp) http://identifiers.org/clinvar/356349 ^@ NM_006929.4(SKIV2L):c.3409C>T (p.Arg1137Cys) http://identifiers.org/clinvar/350060 ^@ NM_000345.3(SNCA):c.*2277A>C http://identifiers.org/clinvar/349974 ^@ NM_004407.3(DMP1):c.475C>A (p.Gln159Lys) http://identifiers.org/clinvar/353687 ^@ NM_000163.4(GHR):c.1699A>T (p.Ile567Phe) http://identifiers.org/clinvar/350061 ^@ NM_000345.3(SNCA):c.*2269C>T http://identifiers.org/clinvar/353692 ^@ NM_000163.4(GHR):c.*154G>A http://identifiers.org/clinvar/353704 ^@ NM_000163.4(GHR):c.*981G>A http://identifiers.org/clinvar/356352 ^@ NM_006929.4(SKIV2L):c.3540+7A>G http://identifiers.org/clinvar/349979 ^@ NM_004407.3(DMP1):c.844C>A (p.Leu282Ile) http://identifiers.org/clinvar/353709 ^@ NM_000163.4(GHR):c.*1689A>T http://identifiers.org/clinvar/349986 ^@ NM_004407.3(DMP1):c.1408G>A (p.Glu470Lys) http://identifiers.org/clinvar/349990 ^@ NM_004407.3(DMP1):c.*61C>T http://identifiers.org/clinvar/353713 ^@ NM_000163.4(GHR):c.*1892T>A http://identifiers.org/clinvar/350064 ^@ NM_000345.3(SNCA):c.*2105G>A http://identifiers.org/clinvar/353726 ^@ NM_004465.1(FGF10):c.186C>A (p.Ser62Arg) http://identifiers.org/clinvar/356356 ^@ NM_006929.4(SKIV2L):c.*19T>C http://identifiers.org/clinvar/349994 ^@ NM_004407.3(DMP1):c.*373T>A http://identifiers.org/clinvar/356357 ^@ NM_148919.3(PSMB8):c.*178G>A http://identifiers.org/clinvar/349998 ^@ NM_004407.3(DMP1):c.*607A>G http://identifiers.org/clinvar/350001 ^@ NM_004407.3(DMP1):c.*791A>C http://identifiers.org/clinvar/353735 ^@ NM_002203.3(ITGA2):c.517A>G (p.Ile173Val) http://identifiers.org/clinvar/356360 ^@ NM_148919.3(PSMB8):c.*6G>C http://identifiers.org/clinvar/353737 ^@ NM_002203.3(ITGA2):c.630+10A>G http://identifiers.org/clinvar/350066 ^@ NM_000345.3(SNCA):c.*1896C>T http://identifiers.org/clinvar/356365 ^@ NM_148919.3(PSMB8):c.407+6C>T http://identifiers.org/clinvar/356371 ^@ NM_148919.3(PSMB8):c.-35C>T http://identifiers.org/clinvar/350072 ^@ NM_000345.3(SNCA):c.*1310_*1311insTTT http://identifiers.org/clinvar/350004 ^@ NM_004407.3(DMP1):c.*917_*918delCT http://identifiers.org/clinvar/356378 ^@ NM_080680.2(COL11A2):c.*248C>A http://identifiers.org/clinvar/350013 ^@ NM_000297.3(PKD2):c.189C>T (p.Ala63=) http://identifiers.org/clinvar/350017 ^@ NM_000297.3(PKD2):c.514G>T (p.Asp172Tyr) http://identifiers.org/clinvar/350020 ^@ NM_000297.3(PKD2):c.781C>T (p.Pro261Ser) http://identifiers.org/clinvar/350027 ^@ NM_000297.3(PKD2):c.2241-9T>C http://identifiers.org/clinvar/350070 ^@ NM_000345.3(SNCA):c.*1307_*1311dupTTTAC http://identifiers.org/clinvar/356383 ^@ NM_080680.2(COL11A2):c.4651C>T (p.Arg1551Trp) http://identifiers.org/clinvar/350075 ^@ NM_000345.3(SNCA):c.*1306_*1310dupTTTTA http://identifiers.org/clinvar/350030 ^@ NM_000297.3(PKD2):c.2720G>A (p.Arg907Gln) http://identifiers.org/clinvar/356384 ^@ NM_080680.2(COL11A2):c.4586C>T (p.Pro1529Leu) http://identifiers.org/clinvar/353742 ^@ NM_002203.3(ITGA2):c.780-11A>T http://identifiers.org/clinvar/353744 ^@ NM_002203.3(ITGA2):c.825G>A (p.Thr275=) http://identifiers.org/clinvar/356390 ^@ NM_080680.2(COL11A2):c.3654A>G (p.Ser1218=) http://identifiers.org/clinvar/353749 ^@ NM_002203.3(ITGA2):c.1108G>A (p.Gly370Arg) http://identifiers.org/clinvar/356393 ^@ NM_080680.2(COL11A2):c.3328C>T (p.Pro1110Ser) http://identifiers.org/clinvar/350031 ^@ NM_000297.3(PKD2):c.2814A>G (p.Gln938=) http://identifiers.org/clinvar/356396 ^@ NM_080680.2(COL11A2):c.2848C>T (p.Pro950Ser) http://identifiers.org/clinvar/350035 ^@ NM_000297.3(PKD2):c.*235dupA http://identifiers.org/clinvar/356404 ^@ NM_080680.2(COL11A2):c.1873-14A>G http://identifiers.org/clinvar/350040 ^@ NM_000297.3(PKD2):c.*552G>A http://identifiers.org/clinvar/350083 ^@ NM_000345.3(SNCA):c.*1291_*1292insTTTCT http://identifiers.org/clinvar/356407 ^@ NM_080680.2(COL11A2):c.1208C>T (p.Pro403Leu) http://identifiers.org/clinvar/350046 ^@ NM_000297.3(PKD2):c.*1175T>A http://identifiers.org/clinvar/356416 ^@ NM_080680.2(COL11A2):c.-226C>T http://identifiers.org/clinvar/350048 ^@ NM_000297.3(PKD2):c.*1237G>A http://identifiers.org/clinvar/350054 ^@ NM_000297.3(PKD2):c.*1941delT http://identifiers.org/clinvar/356421 ^@ NM_001014.4(RPS10):c.111C>G (p.Asp37Glu) http://identifiers.org/clinvar/356422 ^@ NM_001014.4(RPS10):c.71A>G (p.Lys24Arg) http://identifiers.org/clinvar/356424 ^@ NM_001014.4(RPS10):c.1-3C>G http://identifiers.org/clinvar/350088 ^@ NM_000345.3(SNCA):c.*1078A>T http://identifiers.org/clinvar/350091 ^@ NM_000345.3(SNCA):c.*1033T>C http://identifiers.org/clinvar/353753 ^@ NM_002203.3(ITGA2):c.1600G>A (p.Glu534Lys) http://identifiers.org/clinvar/356426 ^@ NM_001014.4(RPS10):c.-14C>T http://identifiers.org/clinvar/350057 ^@ NM_000345.3(SNCA):c.*2501C>A http://identifiers.org/clinvar/356430 ^@ NM_001014.4(RPS10):c.-38_-36delCCT http://identifiers.org/clinvar/356437 ^@ NM_021922.2(FANCE):c.-105C>T http://identifiers.org/clinvar/350093 ^@ NM_000345.3(SNCA):c.*893C>T http://identifiers.org/clinvar/356444 ^@ NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) http://identifiers.org/clinvar/356446 ^@ NM_021922.2(FANCE):c.552A>C (p.Pro184=) http://identifiers.org/clinvar/356447 ^@ NM_021922.2(FANCE):c.696G>A (p.Glu232=) http://identifiers.org/clinvar/350094 ^@ NM_000345.3(SNCA):c.*860T>A http://identifiers.org/clinvar/350101 ^@ NM_000345.3(SNCA):c.*211G>A http://identifiers.org/clinvar/353759 ^@ NM_002203.3(ITGA2):c.1958C>A (p.Ala653Asp) http://identifiers.org/clinvar/356449 ^@ NM_021922.2(FANCE):c.977T>G (p.Leu326Trp) http://identifiers.org/clinvar/353779 ^@ NM_002203.3(ITGA2):c.3252C>T (p.Phe1084=) http://identifiers.org/clinvar/356453 ^@ NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) http://identifiers.org/clinvar/353784 ^@ NM_002203.3(ITGA2):c.*35A>C http://identifiers.org/clinvar/350065 ^@ NM_000345.3(SNCA):c.*2037T>C http://identifiers.org/clinvar/353789 ^@ NM_002203.3(ITGA2):c.*236delG http://identifiers.org/clinvar/350102 ^@ NM_000345.3(SNCA):c.*173G>A http://identifiers.org/clinvar/356454 ^@ NM_021922.2(FANCE):c.1593G>A (p.Leu531=) http://identifiers.org/clinvar/356456 ^@ NM_021922.2(FANCE):c.*216delC http://identifiers.org/clinvar/350067 ^@ NM_000345.3(SNCA):c.*1702G>A http://identifiers.org/clinvar/356459 ^@ NM_021922.2(FANCE):c.*729A>G http://identifiers.org/clinvar/356461 ^@ NM_003322.5(TULP1):c.*305G>A http://identifiers.org/clinvar/356472 ^@ NM_003322.5(TULP1):c.477G>C (p.Arg159Ser) http://identifiers.org/clinvar/353790 ^@ NM_002203.3(ITGA2):c.*430G>C http://identifiers.org/clinvar/353791 ^@ NM_002203.3(ITGA2):c.*462A>C http://identifiers.org/clinvar/353797 ^@ NM_002203.3(ITGA2):c.*760_*761insTTAT http://identifiers.org/clinvar/356476 ^@ NM_003322.5(TULP1):c.85C>T (p.Arg29Trp) http://identifiers.org/clinvar/350107 ^@ NM_000345.3(SNCA):c.-26+15C>T http://identifiers.org/clinvar/350076 ^@ NM_000345.3(SNCA):c.*1310A>T http://identifiers.org/clinvar/353798 ^@ NM_002203.3(ITGA2):c.*850_*854delCTTCT http://identifiers.org/clinvar/356478 ^@ NM_182548.3(LHFPL5):c.-337G>T http://identifiers.org/clinvar/353801 ^@ NM_002203.3(ITGA2):c.*1044_*1045dupAA http://identifiers.org/clinvar/356480 ^@ NM_182548.3(LHFPL5):c.-305G>A http://identifiers.org/clinvar/353802 ^@ NM_002203.3(ITGA2):c.*1199C>T http://identifiers.org/clinvar/353803 ^@ NM_002203.3(ITGA2):c.*1252G>A http://identifiers.org/clinvar/353804 ^@ NM_002203.3(ITGA2):c.*1322T>C http://identifiers.org/clinvar/350111 ^@ NM_000345.3(SNCA):c.-219G>C http://identifiers.org/clinvar/350079 ^@ NM_000345.3(SNCA):c.*1308_*1309dupTT http://identifiers.org/clinvar/356481 ^@ NM_182548.3(LHFPL5):c.-296_-295delAG http://identifiers.org/clinvar/353806 ^@ NM_002203.3(ITGA2):c.*1641C>G http://identifiers.org/clinvar/350080 ^@ NM_000345.3(SNCA):c.*1291_*1292insTTT http://identifiers.org/clinvar/356483 ^@ NM_182548.3(LHFPL5):c.-132A>G http://identifiers.org/clinvar/350085 ^@ NM_000345.3(SNCA):c.*1287G>A http://identifiers.org/clinvar/350086 ^@ NM_000345.3(SNCA):c.*1274_*1277delCTCT http://identifiers.org/clinvar/353815 ^@ NM_002203.3(ITGA2):c.*2039_*2041delAAA http://identifiers.org/clinvar/356487 ^@ NM_182548.3(LHFPL5):c.-30G>C http://identifiers.org/clinvar/353824 ^@ NM_002203.3(ITGA2):c.*2517_*2520delCAAA http://identifiers.org/clinvar/350089 ^@ NM_000345.3(SNCA):c.*1077delT http://identifiers.org/clinvar/350092 ^@ NM_000345.3(SNCA):c.*1002T>G http://identifiers.org/clinvar/353830 ^@ NM_002203.3(ITGA2):c.*2608A>G http://identifiers.org/clinvar/350112 ^@ NM_000345.3(SNCA):c.-251A>C http://identifiers.org/clinvar/353849 ^@ NM_002203.3(ITGA2):c.*3310T>G http://identifiers.org/clinvar/356488 ^@ NM_182548.3(LHFPL5):c.140C>A (p.Pro47His) http://identifiers.org/clinvar/356489 ^@ NM_182548.3(LHFPL5):c.206T>C (p.Val69Ala) http://identifiers.org/clinvar/353851 ^@ NM_002203.3(ITGA2):c.*3385_*3386insGAAA http://identifiers.org/clinvar/353856 ^@ NM_002203.3(ITGA2):c.*3599_*3600insTTATAAACAACTTTGTAGGACTAT http://identifiers.org/clinvar/353857 ^@ NM_002203.3(ITGA2):c.*3763_*3764delAA http://identifiers.org/clinvar/350095 ^@ NM_000345.3(SNCA):c.*630T>G http://identifiers.org/clinvar/356490 ^@ NM_182548.3(LHFPL5):c.366C>T (p.Asn122=) http://identifiers.org/clinvar/350098 ^@ NM_000345.3(SNCA):c.*501C>T http://identifiers.org/clinvar/350099 ^@ NM_000345.3(SNCA):c.*465A>T http://identifiers.org/clinvar/350105 ^@ NM_000345.3(SNCA):c.298T>C (p.Leu100=) http://identifiers.org/clinvar/350106 ^@ NM_000345.3(SNCA):c.243A>G (p.Thr81=) http://identifiers.org/clinvar/356502 ^@ NM_182548.3(LHFPL5):c.*423T>C http://identifiers.org/clinvar/350114 ^@ NM_001203.2(BMPR1B):c.150C>T (p.Asp50=) http://identifiers.org/clinvar/350116 ^@ NM_001203.2(BMPR1B):c.445C>T (p.Arg149Trp) http://identifiers.org/clinvar/350117 ^@ NM_001203.2(BMPR1B):c.671G>A (p.Arg224His) http://identifiers.org/clinvar/356500 ^@ NM_182548.3(LHFPL5):c.*423_*426delTACA http://identifiers.org/clinvar/353865 ^@ NM_002203.3(ITGA2):c.*4045_*4051delAGTAGTT http://identifiers.org/clinvar/353871 ^@ NM_176806.3(MOCS2):c.*859G>A http://identifiers.org/clinvar/353879 ^@ NM_176806.3(MOCS2):c.*68A>G http://identifiers.org/clinvar/350133 ^@ NM_001203.2(BMPR1B):c.*196A>G http://identifiers.org/clinvar/353881 ^@ NM_176806.3(MOCS2):c.178C>T (p.Arg60Cys) http://identifiers.org/clinvar/356507 ^@ NM_182548.3(LHFPL5):c.*457C>T http://identifiers.org/clinvar/356510 ^@ NM_182548.3(LHFPL5):c.*461_*462delTA http://identifiers.org/clinvar/353882 ^@ NM_176806.3(MOCS2):c.117G>A (p.Lys39=) http://identifiers.org/clinvar/353884 ^@ NM_176806.3(MOCS2):c.14G>A (p.Cys5Tyr) http://identifiers.org/clinvar/353891 ^@ NM_002495.3(NDUFS4):c.424+19dupT http://identifiers.org/clinvar/353894 ^@ NM_006308.2(HSPB3):c.-136G>A http://identifiers.org/clinvar/356512 ^@ NM_182548.3(LHFPL5):c.*465_*466delTA http://identifiers.org/clinvar/353897 ^@ NM_006308.2(HSPB3):c.158C>A (p.Ser53Tyr) http://identifiers.org/clinvar/356508 ^@ NM_182548.3(LHFPL5):c.*465_*468delTACA http://identifiers.org/clinvar/353901 ^@ NM_006308.2(HSPB3):c.347G>C (p.Arg116Pro) http://identifiers.org/clinvar/356517 ^@ NM_182548.3(LHFPL5):c.*477_*483delTATATATinsCACACACAC http://identifiers.org/clinvar/356516 ^@ NM_182548.3(LHFPL5):c.*483_*484delTA http://identifiers.org/clinvar/356522 ^@ NM_182548.3(LHFPL5):c.*512_*513dupAC http://identifiers.org/clinvar/350122 ^@ NM_001203.2(BMPR1B):c.1065T>A (p.Val355=) http://identifiers.org/clinvar/350125 ^@ NM_001203.2(BMPR1B):c.1112G>T (p.Arg371Leu) http://identifiers.org/clinvar/350137 ^@ NM_001203.2(BMPR1B):c.*413G>A http://identifiers.org/clinvar/353904 ^@ NM_006308.2(HSPB3):c.*16T>G http://identifiers.org/clinvar/350141 ^@ NM_001203.2(BMPR1B):c.*762T>C http://identifiers.org/clinvar/353905 ^@ NM_006308.2(HSPB3):c.*109A>C http://identifiers.org/clinvar/350135 ^@ NM_001203.2(BMPR1B):c.*302dupT http://identifiers.org/clinvar/353909 ^@ NM_001104631.1(PDE4D):c.*5283A>G http://identifiers.org/clinvar/353919 ^@ NM_001104631.1(PDE4D):c.*4660C>T http://identifiers.org/clinvar/350142 ^@ NM_001203.2(BMPR1B):c.*790A>C http://identifiers.org/clinvar/350149 ^@ NM_001203.2(BMPR1B):c.*1113G>A http://identifiers.org/clinvar/356539 ^@ NM_182548.3(LHFPL5):c.*512delAinsTCTCTCTCT http://identifiers.org/clinvar/353922 ^@ NM_001104631.1(PDE4D):c.*4513C>T http://identifiers.org/clinvar/356550 ^@ NM_182548.3(LHFPL5):c.*803A>G http://identifiers.org/clinvar/356552 ^@ NM_182548.3(LHFPL5):c.*904delT http://identifiers.org/clinvar/353923 ^@ NM_001104631.1(PDE4D):c.*4398T>G http://identifiers.org/clinvar/356553 ^@ NM_182548.3(LHFPL5):c.*1010G>A http://identifiers.org/clinvar/356557 ^@ NM_001145717.1(PNPLA1):c.438+10C>T http://identifiers.org/clinvar/350152 ^@ NM_001203.2(BMPR1B):c.*1559A>G http://identifiers.org/clinvar/350147 ^@ NM_001203.2(BMPR1B):c.*989A>G http://identifiers.org/clinvar/350155 ^@ NM_001203.2(BMPR1B):c.*1971C>G http://identifiers.org/clinvar/350158 ^@ NM_001203.2(BMPR1B):c.*2166C>A http://identifiers.org/clinvar/350159 ^@ NM_001203.2(BMPR1B):c.*2216C>G http://identifiers.org/clinvar/350161 ^@ NM_001203.2(BMPR1B):c.*2221A>G http://identifiers.org/clinvar/350162 ^@ NM_001203.2(BMPR1B):c.*2229_*2232delGGTA http://identifiers.org/clinvar/350163 ^@ NM_001203.2(BMPR1B):c.*2230G>T http://identifiers.org/clinvar/350165 ^@ NM_001203.2(BMPR1B):c.*2302G>A http://identifiers.org/clinvar/356560 ^@ NM_001145717.1(PNPLA1):c.675C>T (p.Ile225=) http://identifiers.org/clinvar/350160 ^@ NM_001203.2(BMPR1B):c.*2217T>C http://identifiers.org/clinvar/356563 ^@ NM_001145717.1(PNPLA1):c.744C>T (p.Tyr248=) http://identifiers.org/clinvar/353930 ^@ NM_001104631.1(PDE4D):c.*3588A>C http://identifiers.org/clinvar/353939 ^@ NM_001104631.1(PDE4D):c.*2653delC http://identifiers.org/clinvar/353944 ^@ NM_001104631.1(PDE4D):c.*2369G>A http://identifiers.org/clinvar/350169 ^@ NM_001203.2(BMPR1B):c.*2453A>G http://identifiers.org/clinvar/356566 ^@ NM_001145717.1(PNPLA1):c.863A>G (p.Glu288Gly) http://identifiers.org/clinvar/350170 ^@ NM_001203.2(BMPR1B):c.*2572G>T http://identifiers.org/clinvar/356570 ^@ NM_001145717.1(PNPLA1):c.955G>A (p.Asp319Asn) http://identifiers.org/clinvar/350166 ^@ NM_001203.2(BMPR1B):c.*2332T>A http://identifiers.org/clinvar/350167 ^@ NM_001203.2(BMPR1B):c.*2350C>T http://identifiers.org/clinvar/353954 ^@ NM_001104631.1(PDE4D):c.*1938C>T http://identifiers.org/clinvar/356579 ^@ NM_001145717.1(PNPLA1):c.*410C>T http://identifiers.org/clinvar/350171 ^@ NM_001203.2(BMPR1B):c.*2776A>G http://identifiers.org/clinvar/356581 ^@ NM_001145717.1(PNPLA1):c.*507A>C http://identifiers.org/clinvar/350172 ^@ NM_001203.2(BMPR1B):c.*2949A>G http://identifiers.org/clinvar/350174 ^@ NM_001203.2(BMPR1B):c.*3221T>C http://identifiers.org/clinvar/350178 ^@ NM_001203.2(BMPR1B):c.*3303G>A http://identifiers.org/clinvar/356583 ^@ NM_001145717.1(PNPLA1):c.*540A>G http://identifiers.org/clinvar/350176 ^@ NM_001203.2(BMPR1B):c.*3277A>T http://identifiers.org/clinvar/356587 ^@ NM_005943.5(MOCS1):c.*2710C>T http://identifiers.org/clinvar/356589 ^@ NM_005943.5(MOCS1):c.*2677A>G http://identifiers.org/clinvar/350183 ^@ NM_001203.2(BMPR1B):c.*3679G>A http://identifiers.org/clinvar/356592 ^@ NM_005943.5(MOCS1):c.*2634_*2638dupACTTA http://identifiers.org/clinvar/356594 ^@ NM_005943.5(MOCS1):c.*2543_*2546dupATTT http://identifiers.org/clinvar/350177 ^@ NM_001203.2(BMPR1B):c.*3301C>T http://identifiers.org/clinvar/356603 ^@ NM_005943.5(MOCS1):c.*2192C>G http://identifiers.org/clinvar/356605 ^@ NM_005943.5(MOCS1):c.*2157dupA http://identifiers.org/clinvar/353955 ^@ NM_001104631.1(PDE4D):c.*1924T>C http://identifiers.org/clinvar/356606 ^@ NM_005943.5(MOCS1):c.*2116_*2119dupACCA http://identifiers.org/clinvar/356608 ^@ NM_005943.5(MOCS1):c.*2073C>T http://identifiers.org/clinvar/356614 ^@ NM_005943.5(MOCS1):c.*1831T>A http://identifiers.org/clinvar/350192 ^@ NM_020041.2(SLC2A9):c.*110G>T http://identifiers.org/clinvar/350193 ^@ NM_020041.2(SLC2A9):c.*48C>G http://identifiers.org/clinvar/353956 ^@ NM_001104631.1(PDE4D):c.*1778_*1781delTATT http://identifiers.org/clinvar/353960 ^@ NM_001104631.1(PDE4D):c.*1634_*1635dupTA http://identifiers.org/clinvar/350195 ^@ NM_020041.2(SLC2A9):c.1545C>T (p.Ser515=) http://identifiers.org/clinvar/350200 ^@ NM_020041.2(SLC2A9):c.1356C>T (p.Ile452=) http://identifiers.org/clinvar/350190 ^@ NM_000203.4(IDUA):c.248G>A (p.Arg83His) http://identifiers.org/clinvar/353963 ^@ NM_001104631.1(PDE4D):c.*1379A>G http://identifiers.org/clinvar/350203 ^@ NM_020041.2(SLC2A9):c.1203G>A (p.Thr401=) http://identifiers.org/clinvar/356620 ^@ NM_005943.5(MOCS1):c.*1688_*1691delAATC http://identifiers.org/clinvar/350209 ^@ NM_020041.2(SLC2A9):c.957C>T (p.Thr319=) http://identifiers.org/clinvar/353965 ^@ NM_001104631.1(PDE4D):c.*1323A>T http://identifiers.org/clinvar/350181 ^@ NM_001203.2(BMPR1B):c.*3618G>A http://identifiers.org/clinvar/350184 ^@ NM_001203.2(BMPR1B):c.*3699A>G http://identifiers.org/clinvar/356623 ^@ NM_005943.5(MOCS1):c.*1527_*1529dupTCA http://identifiers.org/clinvar/353972 ^@ NM_001104631.1(PDE4D):c.*1020_*1022dupCTC http://identifiers.org/clinvar/356632 ^@ NM_005943.5(MOCS1):c.*1219C>T http://identifiers.org/clinvar/353975 ^@ NM_001104631.1(PDE4D):c.*815_*817dupTTC http://identifiers.org/clinvar/353979 ^@ NM_001104631.1(PDE4D):c.*582dupT http://identifiers.org/clinvar/353996 ^@ NM_001104631.1(PDE4D):c.891G>A (p.Arg297=) http://identifiers.org/clinvar/353999 ^@ NM_001104631.1(PDE4D):c.339G>A (p.Glu113=) http://identifiers.org/clinvar/354000 ^@ NM_001104631.1(PDE4D):c.125C>A (p.Pro42Gln) http://identifiers.org/clinvar/350210 ^@ NM_020041.2(SLC2A9):c.899G>A (p.Arg300His) http://identifiers.org/clinvar/354001 ^@ NM_001104631.1(PDE4D):c.-55C>T http://identifiers.org/clinvar/356635 ^@ NM_005943.5(MOCS1):c.*1146G>A http://identifiers.org/clinvar/356639 ^@ NM_005943.5(MOCS1):c.*770A>G http://identifiers.org/clinvar/356641 ^@ NM_005943.5(MOCS1):c.*645T>G http://identifiers.org/clinvar/356643 ^@ NM_005943.5(MOCS1):c.*572G>A http://identifiers.org/clinvar/350213 ^@ NM_020041.2(SLC2A9):c.881G>A (p.Arg294His) http://identifiers.org/clinvar/350217 ^@ NM_020041.2(SLC2A9):c.841G>C (p.Asp281His) http://identifiers.org/clinvar/350185 ^@ NM_001203.2(BMPR1B):c.*3719G>C http://identifiers.org/clinvar/354008 ^@ NM_000082.3(ERCC8):c.*439G>T http://identifiers.org/clinvar/356649 ^@ NM_005943.5(MOCS1):c.*173G>A http://identifiers.org/clinvar/354009 ^@ NM_000082.3(ERCC8):c.*373_*375dupTCA http://identifiers.org/clinvar/350197 ^@ NM_020041.2(SLC2A9):c.1399C>A (p.Leu467Ile) http://identifiers.org/clinvar/354011 ^@ NM_000082.3(ERCC8):c.*105T>C http://identifiers.org/clinvar/354012 ^@ NM_000082.3(ERCC8):c.*36C>T http://identifiers.org/clinvar/354020 ^@ NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) http://identifiers.org/clinvar/354025 ^@ NM_000082.3(ERCC8):c.-25G>C http://identifiers.org/clinvar/356656 ^@ NM_005943.5(MOCS1):c.758-9C>T http://identifiers.org/clinvar/354036 ^@ NM_174889.4(NDUFAF2):c.414T>A (p.Phe138Leu) http://identifiers.org/clinvar/350199 ^@ NM_020041.2(SLC2A9):c.1368C>T (p.Thr456=) http://identifiers.org/clinvar/347012 ^@ NM_000253.3(MTTP):c.-153C>G http://identifiers.org/clinvar/350201 ^@ NM_020041.2(SLC2A9):c.1299C>T (p.Ile433=) http://identifiers.org/clinvar/347017 ^@ NM_000253.3(MTTP):c.-28T>C http://identifiers.org/clinvar/356659 ^@ NM_005943.5(MOCS1):c.698C>T (p.Ala233Val) http://identifiers.org/clinvar/354037 ^@ NM_174889.4(NDUFAF2):c.422A>T (p.Glu141Val) http://identifiers.org/clinvar/354039 ^@ NM_017755.5(NSUN2):c.*563C>T http://identifiers.org/clinvar/356665 ^@ NM_005943.5(MOCS1):c.426C>T (p.Leu142=) http://identifiers.org/clinvar/350187 ^@ NM_000203.4(IDUA):c.44C>T (p.Ala15Val) http://identifiers.org/clinvar/350188 ^@ NM_000203.4(IDUA):c.103G>A (p.Asp35Asn) http://identifiers.org/clinvar/356674 ^@ NM_018965.3(TREM2):c.*30G>A http://identifiers.org/clinvar/356675 ^@ NM_018965.3(TREM2):c.690G>A (p.Thr230=) http://identifiers.org/clinvar/347041 ^@ NM_000253.3(MTTP):c.2041G>A (p.Glu681Lys) http://identifiers.org/clinvar/356678 ^@ NM_018965.3(TREM2):c.287C>A (p.Thr96Lys) http://identifiers.org/clinvar/347043 ^@ NM_000253.3(MTTP):c.2167G>A (p.Asp723Asn) http://identifiers.org/clinvar/347045 ^@ NM_000253.3(MTTP):c.2636A>G (p.Lys879Arg) http://identifiers.org/clinvar/347047 ^@ NM_000253.3(MTTP):c.*41A>G http://identifiers.org/clinvar/356679 ^@ NM_018965.3(TREM2):c.254C>T (p.Thr85Ile) http://identifiers.org/clinvar/350189 ^@ NM_000203.4(IDUA):c.130C>A (p.Arg44=) http://identifiers.org/clinvar/356680 ^@ NM_018965.3(TREM2):c.115G>A (p.Asp39Asn) http://identifiers.org/clinvar/356695 ^@ NM_000409.4(GUCA1A):c.*331A>G http://identifiers.org/clinvar/347049 ^@ NM_000253.3(MTTP):c.*82G>A http://identifiers.org/clinvar/356698 ^@ NM_000409.4(GUCA1A):c.*548C>T http://identifiers.org/clinvar/356700 ^@ NM_002098.5(GUCA1B):c.*1318G>A http://identifiers.org/clinvar/354040 ^@ NM_017755.5(NSUN2):c.*546delC http://identifiers.org/clinvar/356701 ^@ NM_002098.5(GUCA1B):c.*1263G>A http://identifiers.org/clinvar/356709 ^@ NM_002098.5(GUCA1B):c.*868G>A http://identifiers.org/clinvar/356711 ^@ NM_002098.5(GUCA1B):c.*780C>T http://identifiers.org/clinvar/350206 ^@ NM_020041.2(SLC2A9):c.1085G>A (p.Gly362Asp) http://identifiers.org/clinvar/350214 ^@ NM_020041.2(SLC2A9):c.879C>G (p.Ser293Arg) http://identifiers.org/clinvar/354046 ^@ NM_017755.5(NSUN2):c.*17G>A http://identifiers.org/clinvar/356726 ^@ NM_002098.5(GUCA1B):c.*429G>A http://identifiers.org/clinvar/354047 ^@ NM_017755.5(NSUN2):c.2283G>A (p.Ala761=) http://identifiers.org/clinvar/347050 ^@ NM_000253.3(MTTP):c.*98T>A http://identifiers.org/clinvar/356729 ^@ NM_002098.5(GUCA1B):c.*220A>G http://identifiers.org/clinvar/347054 ^@ NM_000253.3(MTTP):c.*454dupA http://identifiers.org/clinvar/347055 ^@ NM_000253.3(MTTP):c.*490_*494delTTGGA http://identifiers.org/clinvar/354048 ^@ NM_017755.5(NSUN2):c.2188A>G (p.Asn730Asp) http://identifiers.org/clinvar/356728 ^@ NM_002098.5(GUCA1B):c.*219_*220delCA http://identifiers.org/clinvar/354049 ^@ NM_017755.5(NSUN2):c.2060G>A (p.Arg687Gln) http://identifiers.org/clinvar/350219 ^@ NM_020041.2(SLC2A9):c.809T>C (p.Val270Ala) http://identifiers.org/clinvar/354053 ^@ NM_017755.5(NSUN2):c.1879G>A (p.Val627Ile) http://identifiers.org/clinvar/356732 ^@ NM_002098.5(GUCA1B):c.*95T>C http://identifiers.org/clinvar/356734 ^@ NM_002098.5(GUCA1B):c.465G>T (p.Glu155Asp) http://identifiers.org/clinvar/354054 ^@ NM_017755.5(NSUN2):c.1602-11G>T http://identifiers.org/clinvar/354056 ^@ NM_017755.5(NSUN2):c.1602-17_1602-15delAAT http://identifiers.org/clinvar/354057 ^@ NM_017755.5(NSUN2):c.1213C>T (p.His405Tyr) http://identifiers.org/clinvar/356740 ^@ NM_002098.5(GUCA1B):c.-60A>G http://identifiers.org/clinvar/347056 ^@ NM_000253.3(MTTP):c.*506A>G http://identifiers.org/clinvar/356744 ^@ NM_000322.4(PRPH2):c.*1580C>G http://identifiers.org/clinvar/347058 ^@ NM_000253.3(MTTP):c.*694A>C http://identifiers.org/clinvar/356752 ^@ NM_000322.4(PRPH2):c.*1299C>T http://identifiers.org/clinvar/347060 ^@ NM_000253.3(MTTP):c.*989T>C http://identifiers.org/clinvar/356757 ^@ NM_000322.4(PRPH2):c.*989G>A http://identifiers.org/clinvar/356760 ^@ NM_000322.4(PRPH2):c.*839G>A http://identifiers.org/clinvar/350235 ^@ NM_020041.2(SLC2A9):c.567T>C (p.Leu189=) http://identifiers.org/clinvar/350220 ^@ NM_020041.2(SLC2A9):c.798G>A (p.Glu266=) http://identifiers.org/clinvar/347009 ^@ NM_000253.3(MTTP):c.-241G>A http://identifiers.org/clinvar/356762 ^@ NM_000322.4(PRPH2):c.*762C>T http://identifiers.org/clinvar/347016 ^@ NM_000253.3(MTTP):c.-54C>T http://identifiers.org/clinvar/347022 ^@ NM_000253.3(MTTP):c.394-7C>T http://identifiers.org/clinvar/356770 ^@ NM_000322.4(PRPH2):c.*213A>C http://identifiers.org/clinvar/347024 ^@ NM_000253.3(MTTP):c.497A>G (p.Asn166Ser) http://identifiers.org/clinvar/356771 ^@ NM_000322.4(PRPH2):c.*174C>T http://identifiers.org/clinvar/356772 ^@ NM_000322.4(PRPH2):c.*154C>T http://identifiers.org/clinvar/350237 ^@ NM_020041.2(SLC2A9):c.375G>A (p.Thr125=) http://identifiers.org/clinvar/356781 ^@ NM_000322.4(PRPH2):c.-59G>A http://identifiers.org/clinvar/350240 ^@ NM_020041.2(SLC2A9):c.322T>C (p.Leu108=) http://identifiers.org/clinvar/354059 ^@ NM_017755.5(NSUN2):c.537+9T>C http://identifiers.org/clinvar/347026 ^@ NM_000253.3(MTTP):c.660T>C (p.Tyr220=) http://identifiers.org/clinvar/356785 ^@ NM_000322.4(PRPH2):c.-282G>A http://identifiers.org/clinvar/356786 ^@ NM_000287.3(PEX6):c.*442_*445delTAAA http://identifiers.org/clinvar/354063 ^@ NM_017755.5(NSUN2):c.22C>T (p.Arg8Trp) http://identifiers.org/clinvar/354068 ^@ NM_017755.5(NSUN2):c.-150A>T http://identifiers.org/clinvar/354073 ^@ NM_017755.5(NSUN2):c.-281G>A http://identifiers.org/clinvar/347029 ^@ NM_000253.3(MTTP):c.833A>G (p.Lys278Arg) http://identifiers.org/clinvar/356788 ^@ NM_000287.3(PEX6):c.*368G>A http://identifiers.org/clinvar/347030 ^@ NM_000253.3(MTTP):c.901T>C (p.Cys301Arg) http://identifiers.org/clinvar/354077 ^@ NM_017755.5(NSUN2):c.-355G>A http://identifiers.org/clinvar/356789 ^@ NM_000287.3(PEX6):c.*319C>T http://identifiers.org/clinvar/354083 ^@ NM_001038603.2(MARVELD2):c.497C>T (p.Thr166Ile) http://identifiers.org/clinvar/354087 ^@ NM_001038603.2(MARVELD2):c.760C>G (p.Pro254Ala) http://identifiers.org/clinvar/354088 ^@ NM_001038603.2(MARVELD2):c.1033A>G (p.Met345Val) http://identifiers.org/clinvar/356790 ^@ NM_000287.3(PEX6):c.*212C>T http://identifiers.org/clinvar/354089 ^@ NM_001038603.2(MARVELD2):c.1049T>C (p.Val350Ala) http://identifiers.org/clinvar/356793 ^@ NM_000287.3(PEX6):c.2877A>G (p.Gln959=) http://identifiers.org/clinvar/356798 ^@ NM_000287.3(PEX6):c.1234-10C>T http://identifiers.org/clinvar/354090 ^@ NM_001038603.2(MARVELD2):c.1100G>T (p.Arg367Met) http://identifiers.org/clinvar/347033 ^@ NM_000253.3(MTTP):c.1023A>G (p.Lys341=) http://identifiers.org/clinvar/350247 ^@ NM_012073.4(CCT5):c.86T>C (p.Met29Thr) http://identifiers.org/clinvar/354093 ^@ NM_001038603.2(MARVELD2):c.1320C>A (p.Pro440=) http://identifiers.org/clinvar/354094 ^@ NM_001038603.2(MARVELD2):c.1443G>A (p.Arg481=) http://identifiers.org/clinvar/354096 ^@ NM_001038603.2(MARVELD2):c.*121C>T http://identifiers.org/clinvar/350248 ^@ NM_012073.4(CCT5):c.198A>G (p.Gly66=) http://identifiers.org/clinvar/356800 ^@ NM_000287.3(PEX6):c.1110A>G (p.Gly370=) http://identifiers.org/clinvar/347035 ^@ NM_000253.3(MTTP):c.1557+7T>A http://identifiers.org/clinvar/356803 ^@ NM_000287.3(PEX6):c.718G>A (p.Ala240Thr) http://identifiers.org/clinvar/347036 ^@ NM_000253.3(MTTP):c.1769+3A>G http://identifiers.org/clinvar/354098 ^@ NM_001038603.2(MARVELD2):c.*184C>T http://identifiers.org/clinvar/354103 ^@ NM_022132.4(MCCC2):c.1572A>T (p.Ala524=) http://identifiers.org/clinvar/356805 ^@ NM_000287.3(PEX6):c.503C>T (p.Pro168Leu) http://identifiers.org/clinvar/356808 ^@ NM_000287.3(PEX6):c.-55C>T http://identifiers.org/clinvar/356815 ^@ NM_014780.4(CUL7):c.5041C>T (p.Arg1681Trp) http://identifiers.org/clinvar/354104 ^@ NM_022132.4(MCCC2):c.1657A>G (p.Ile553Val) http://identifiers.org/clinvar/354105 ^@ NM_022132.4(MCCC2):c.*245T>C http://identifiers.org/clinvar/354115 ^@ NM_022132.4(MCCC2):c.*719delA http://identifiers.org/clinvar/350249 ^@ NM_012073.4(CCT5):c.426T>C (p.Arg142=) http://identifiers.org/clinvar/354124 ^@ NM_022132.4(MCCC2):c.*1198C>T http://identifiers.org/clinvar/356816 ^@ NM_014780.4(CUL7):c.4935C>T (p.Ser1645=) http://identifiers.org/clinvar/350252 ^@ NM_012073.4(CCT5):c.677A>G (p.Lys226Arg) http://identifiers.org/clinvar/354125 ^@ NM_022132.4(MCCC2):c.*1354C>T http://identifiers.org/clinvar/347042 ^@ NM_000253.3(MTTP):c.2043G>A (p.Glu681=) http://identifiers.org/clinvar/347044 ^@ NM_000253.3(MTTP):c.2513+13G>A http://identifiers.org/clinvar/350263 ^@ NM_012073.4(CCT5):c.*69C>T http://identifiers.org/clinvar/354126 ^@ NM_022132.4(MCCC2):c.*1381A>C http://identifiers.org/clinvar/356817 ^@ NM_014780.4(CUL7):c.4876C>G (p.Leu1626Val) http://identifiers.org/clinvar/350265 ^@ NM_012073.4(CCT5):c.*205T>C http://identifiers.org/clinvar/356822 ^@ NM_014780.4(CUL7):c.4463T>C (p.Leu1488Pro) http://identifiers.org/clinvar/356827 ^@ NM_014780.4(CUL7):c.4131T>C (p.Asn1377=) http://identifiers.org/clinvar/347057 ^@ NM_000253.3(MTTP):c.*517A>T http://identifiers.org/clinvar/356830 ^@ NM_014780.4(CUL7):c.3332C>T (p.Pro1111Leu) http://identifiers.org/clinvar/347059 ^@ NM_000253.3(MTTP):c.*862C>A http://identifiers.org/clinvar/347061 ^@ NM_000253.3(MTTP):c.*1044G>T http://identifiers.org/clinvar/350239 ^@ NM_020041.2(SLC2A9):c.351C>T (p.Phe117=) http://identifiers.org/clinvar/356841 ^@ NM_014780.4(CUL7):c.2169+5C>T http://identifiers.org/clinvar/350267 ^@ NM_012073.4(CCT5):c.*320T>C http://identifiers.org/clinvar/356842 ^@ NM_014780.4(CUL7):c.2146C>T (p.Arg716Trp) http://identifiers.org/clinvar/350270 ^@ NM_012073.4(CCT5):c.*382C>T http://identifiers.org/clinvar/350273 ^@ NM_012073.4(CCT5):c.*487C>T http://identifiers.org/clinvar/356851 ^@ NM_014780.4(CUL7):c.1202G>A (p.Arg401Gln) http://identifiers.org/clinvar/356855 ^@ NM_014780.4(CUL7):c.587G>A (p.Arg196Gln) http://identifiers.org/clinvar/350275 ^@ NM_012073.4(CCT5):c.*566C>T http://identifiers.org/clinvar/354127 ^@ NM_022132.4(MCCC2):c.*1573C>G http://identifiers.org/clinvar/350244 ^@ NM_012073.4(CCT5):c.-48C>T http://identifiers.org/clinvar/356856 ^@ NM_014780.4(CUL7):c.384T>C (p.Cys128=) http://identifiers.org/clinvar/354129 ^@ NM_000521.3(HEXB):c.-14G>A http://identifiers.org/clinvar/354132 ^@ NM_000521.3(HEXB):c.842G>A (p.Arg281Gln) http://identifiers.org/clinvar/354135 ^@ NM_000521.3(HEXB):c.1082+5G>A http://identifiers.org/clinvar/356866 ^@ NM_203290.3(POLR1C):c.-63C>A http://identifiers.org/clinvar/356868 ^@ NM_203290.3(POLR1C):c.-4G>A http://identifiers.org/clinvar/354136 ^@ NM_000521.3(HEXB):c.1248G>A (p.Ala416=) http://identifiers.org/clinvar/356869 ^@ NM_203290.3(POLR1C):c.68A>G (p.Asn23Ser) http://identifiers.org/clinvar/356871 ^@ NM_203290.3(POLR1C):c.138G>A (p.Glu46=) http://identifiers.org/clinvar/350288 ^@ NM_012073.4(CCT5):c.*1172G>T http://identifiers.org/clinvar/356879 ^@ NM_203290.3(POLR1C):c.656-9C>T http://identifiers.org/clinvar/356882 ^@ NM_203290.3(POLR1C):c.*30T>C http://identifiers.org/clinvar/350258 ^@ NM_012073.4(CCT5):c.1346G>A (p.Arg449Lys) http://identifiers.org/clinvar/354145 ^@ NM_003719.3(PDE8B):c.63C>T (p.Asp21=) http://identifiers.org/clinvar/350292 ^@ NM_012073.4(CCT5):c.*1471delC http://identifiers.org/clinvar/350297 ^@ NM_139281.2(WDR36):c.74T>C (p.Leu25Pro) http://identifiers.org/clinvar/350300 ^@ NM_139281.2(WDR36):c.308G>A (p.Gly103Asp) http://identifiers.org/clinvar/354147 ^@ NM_003719.3(PDE8B):c.156C>T (p.Ala52=) http://identifiers.org/clinvar/356889 ^@ NM_006502.2(POLH):c.-232C>A http://identifiers.org/clinvar/356893 ^@ NM_006502.2(POLH):c.-117C>T http://identifiers.org/clinvar/356897 ^@ NM_006502.2(POLH):c.-5+3A>G http://identifiers.org/clinvar/350259 ^@ NM_012073.4(CCT5):c.1474G>A (p.Asp492Asn) http://identifiers.org/clinvar/356904 ^@ NM_006502.2(POLH):c.986C>T (p.Thr329Ile) http://identifiers.org/clinvar/350266 ^@ NM_012073.4(CCT5):c.*221_*222delGT http://identifiers.org/clinvar/350269 ^@ NM_012073.4(CCT5):c.*347T>C http://identifiers.org/clinvar/354151 ^@ NM_003719.3(PDE8B):c.435C>T (p.Ser145=) http://identifiers.org/clinvar/356905 ^@ NM_006502.2(POLH):c.1074T>G (p.Asp358Glu) http://identifiers.org/clinvar/354156 ^@ NM_003719.3(PDE8B):c.999A>G (p.Thr333=) http://identifiers.org/clinvar/350312 ^@ NM_139281.2(WDR36):c.851A>G (p.Lys284Arg) http://identifiers.org/clinvar/356909 ^@ NM_006502.2(POLH):c.1288T>C (p.Ser430Pro) http://identifiers.org/clinvar/356912 ^@ NM_006502.2(POLH):c.1721G>A (p.Cys574Tyr) http://identifiers.org/clinvar/356915 ^@ NM_006502.2(POLH):c.2024C>A (p.Ser675Tyr) http://identifiers.org/clinvar/350313 ^@ NM_139281.2(WDR36):c.911T>C (p.Val304Ala) http://identifiers.org/clinvar/350314 ^@ NM_139281.2(WDR36):c.1057G>T (p.Ala353Ser) http://identifiers.org/clinvar/354160 ^@ NM_003719.3(PDE8B):c.1309C>T (p.Arg437Cys) http://identifiers.org/clinvar/356916 ^@ NM_006502.2(POLH):c.2028C>T (p.Ala676=) http://identifiers.org/clinvar/354163 ^@ NM_003719.3(PDE8B):c.1698C>A (p.Ala566=) http://identifiers.org/clinvar/354165 ^@ NM_003719.3(PDE8B):c.1881C>T (p.Thr627=) http://identifiers.org/clinvar/356918 ^@ NM_006502.2(POLH):c.*290C>T http://identifiers.org/clinvar/356926 ^@ NM_006502.2(POLH):c.*865G>A http://identifiers.org/clinvar/356930 ^@ NM_006502.2(POLH):c.*985G>A http://identifiers.org/clinvar/350324 ^@ NM_139281.2(WDR36):c.1885-20_1885-14delTTTTTTTinsATATATATATA http://identifiers.org/clinvar/350322 ^@ NM_139281.2(WDR36):c.1885-11_1885-10delTT http://identifiers.org/clinvar/350325 ^@ NM_139281.2(WDR36):c.1923G>A (p.Ala641=) http://identifiers.org/clinvar/350271 ^@ NM_012073.4(CCT5):c.*383A>G http://identifiers.org/clinvar/356931 ^@ NM_006502.2(POLH):c.*998A>G http://identifiers.org/clinvar/356932 ^@ NM_006502.2(POLH):c.*1055A>T http://identifiers.org/clinvar/350276 ^@ NM_012073.4(CCT5):c.*593A>G http://identifiers.org/clinvar/350283 ^@ NM_012073.4(CCT5):c.*992_*994dupTCT http://identifiers.org/clinvar/350285 ^@ NM_012073.4(CCT5):c.*1042T>C http://identifiers.org/clinvar/350294 ^@ NM_139281.2(WDR36):c.-84G>A http://identifiers.org/clinvar/356935 ^@ NM_006502.2(POLH):c.*1110A>T http://identifiers.org/clinvar/350299 ^@ NM_139281.2(WDR36):c.300C>T (p.Thr100=) http://identifiers.org/clinvar/356936 ^@ NM_006502.2(POLH):c.*1129A>T http://identifiers.org/clinvar/350326 ^@ NM_139281.2(WDR36):c.1963T>G (p.Cys655Gly) http://identifiers.org/clinvar/354172 ^@ NM_003719.3(PDE8B):c.2274C>T (p.Cys758=) http://identifiers.org/clinvar/350306 ^@ NM_139281.2(WDR36):c.488C>T (p.Ala163Val) http://identifiers.org/clinvar/356940 ^@ NM_006502.2(POLH):c.*1219A>T http://identifiers.org/clinvar/350308 ^@ NM_139281.2(WDR36):c.591G>A (p.Gln197=) http://identifiers.org/clinvar/350310 ^@ NM_139281.2(WDR36):c.636T>C (p.His212=) http://identifiers.org/clinvar/350316 ^@ NM_139281.2(WDR36):c.1610-7C>T http://identifiers.org/clinvar/356942 ^@ NM_006502.2(POLH):c.*1549C>T http://identifiers.org/clinvar/350319 ^@ NM_139281.2(WDR36):c.1810A>G (p.Ile604Val) http://identifiers.org/clinvar/356946 ^@ NM_006502.2(POLH):c.*1735A>G http://identifiers.org/clinvar/356953 ^@ NM_006502.2(POLH):c.*1916C>T http://identifiers.org/clinvar/350321 ^@ NM_139281.2(WDR36):c.1879G>C (p.Asp627His) http://identifiers.org/clinvar/350329 ^@ NM_139281.2(WDR36):c.1992G>A (p.Ser664=) http://identifiers.org/clinvar/354180 ^@ NM_003719.3(PDE8B):c.*70C>T http://identifiers.org/clinvar/350328 ^@ NM_139281.2(WDR36):c.1981T>C (p.Leu661=) http://identifiers.org/clinvar/350330 ^@ NM_139281.2(WDR36):c.2011A>G (p.Met671Val) http://identifiers.org/clinvar/356961 ^@ NM_006502.2(POLH):c.*2151A>G http://identifiers.org/clinvar/350331 ^@ NM_139281.2(WDR36):c.2137A>G (p.Ile713Val) http://identifiers.org/clinvar/350338 ^@ NM_139281.2(WDR36):c.*60C>T http://identifiers.org/clinvar/350334 ^@ NM_139281.2(WDR36):c.2519-8T>G http://identifiers.org/clinvar/356965 ^@ NM_006502.2(POLH):c.*2489C>T http://identifiers.org/clinvar/356973 ^@ NM_006502.2(POLH):c.*2975C>A http://identifiers.org/clinvar/356976 ^@ NM_006502.2(POLH):c.*3088G>A http://identifiers.org/clinvar/350340 ^@ NM_139281.2(WDR36):c.*93A>C http://identifiers.org/clinvar/350342 ^@ NM_139281.2(WDR36):c.*171C>T http://identifiers.org/clinvar/350343 ^@ NM_139281.2(WDR36):c.*230G>C http://identifiers.org/clinvar/354181 ^@ NM_003719.3(PDE8B):c.*179G>A http://identifiers.org/clinvar/356987 ^@ NM_006502.2(POLH):c.*3800T>C http://identifiers.org/clinvar/354187 ^@ NM_003719.3(PDE8B):c.*456A>G http://identifiers.org/clinvar/354203 ^@ NM_003719.3(PDE8B):c.*921A>G http://identifiers.org/clinvar/356998 ^@ NM_006502.2(POLH):c.*4531_*4532delAA http://identifiers.org/clinvar/357006 ^@ NM_006502.2(POLH):c.*4928T>C http://identifiers.org/clinvar/354207 ^@ NM_003719.3(PDE8B):c.*1150A>G http://identifiers.org/clinvar/357009 ^@ NM_006502.2(POLH):c.*5142_*5146delATACA http://identifiers.org/clinvar/357014 ^@ NM_006502.2(POLH):c.*5713T>C http://identifiers.org/clinvar/350335 ^@ NM_139281.2(WDR36):c.2527G>A (p.Ala843Thr) http://identifiers.org/clinvar/350349 ^@ NM_139281.2(WDR36):c.*450A>C http://identifiers.org/clinvar/350352 ^@ NM_139281.2(WDR36):c.*723C>G http://identifiers.org/clinvar/350344 ^@ NM_139281.2(WDR36):c.*282A>G http://identifiers.org/clinvar/354212 ^@ NM_003664.4(AP3B1):c.*556_*559delTAAA http://identifiers.org/clinvar/350345 ^@ NM_139281.2(WDR36):c.*338A>T http://identifiers.org/clinvar/357015 ^@ NM_006502.2(POLH):c.*5936delA http://identifiers.org/clinvar/357028 ^@ NM_020745.3(AARS2):c.*1576A>G http://identifiers.org/clinvar/357030 ^@ NM_020745.3(AARS2):c.*1485G>A http://identifiers.org/clinvar/350346 ^@ NM_139281.2(WDR36):c.*360A>T http://identifiers.org/clinvar/357031 ^@ NM_020745.3(AARS2):c.*1473delG http://identifiers.org/clinvar/357033 ^@ NM_020745.3(AARS2):c.*1300C>T http://identifiers.org/clinvar/354218 ^@ NM_003664.4(AP3B1):c.*101T>C http://identifiers.org/clinvar/357035 ^@ NM_020745.3(AARS2):c.*1284delA http://identifiers.org/clinvar/357037 ^@ NM_020745.3(AARS2):c.*1112dupA http://identifiers.org/clinvar/350358 ^@ NM_139281.2(WDR36):c.*1010G>A http://identifiers.org/clinvar/350347 ^@ NM_139281.2(WDR36):c.*406A>G http://identifiers.org/clinvar/354219 ^@ NM_003664.4(AP3B1):c.*69dupT http://identifiers.org/clinvar/354220 ^@ NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) http://identifiers.org/clinvar/350355 ^@ NM_139281.2(WDR36):c.*903A>G http://identifiers.org/clinvar/350360 ^@ NM_139281.2(WDR36):c.*1040G>T http://identifiers.org/clinvar/350356 ^@ NM_139281.2(WDR36):c.*945A>G http://identifiers.org/clinvar/350357 ^@ NM_139281.2(WDR36):c.*952C>A http://identifiers.org/clinvar/350361 ^@ NM_139281.2(WDR36):c.*1044_*1045insG http://identifiers.org/clinvar/350368 ^@ NM_139281.2(WDR36):c.*1202G>C http://identifiers.org/clinvar/350362 ^@ NM_139281.2(WDR36):c.*1050T>G http://identifiers.org/clinvar/357038 ^@ NM_020745.3(AARS2):c.*997G>T http://identifiers.org/clinvar/350363 ^@ NM_139281.2(WDR36):c.*1061delG http://identifiers.org/clinvar/357046 ^@ NM_020745.3(AARS2):c.*408G>C http://identifiers.org/clinvar/350366 ^@ NM_139281.2(WDR36):c.*1129C>A http://identifiers.org/clinvar/350370 ^@ NM_139281.2(WDR36):c.*1427T>C http://identifiers.org/clinvar/354223 ^@ NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) http://identifiers.org/clinvar/354228 ^@ NM_003664.4(AP3B1):c.2345C>T (p.Ser782Phe) http://identifiers.org/clinvar/350375 ^@ NM_139281.2(WDR36):c.*1735A>T http://identifiers.org/clinvar/350376 ^@ NM_139281.2(WDR36):c.*1740C>T http://identifiers.org/clinvar/357059 ^@ NM_020745.3(AARS2):c.2607G>A (p.Lys869=) http://identifiers.org/clinvar/350373 ^@ NM_139281.2(WDR36):c.*1533G>A http://identifiers.org/clinvar/350379 ^@ NM_139281.2(WDR36):c.*1812A>T http://identifiers.org/clinvar/357060 ^@ NM_020745.3(AARS2):c.2266C>T (p.Arg756Cys) http://identifiers.org/clinvar/350384 ^@ NM_139281.2(WDR36):c.*2223C>T http://identifiers.org/clinvar/350390 ^@ NM_139281.2(WDR36):c.*2638T>G http://identifiers.org/clinvar/354229 ^@ NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) http://identifiers.org/clinvar/357070 ^@ NM_020745.3(AARS2):c.1534G>C (p.Asp512His) http://identifiers.org/clinvar/357076 ^@ NM_020745.3(AARS2):c.915C>T (p.Tyr305=) http://identifiers.org/clinvar/354232 ^@ NM_003664.4(AP3B1):c.2093G>A (p.Ser698Asn) http://identifiers.org/clinvar/354236 ^@ NM_003664.4(AP3B1):c.1720A>G (p.Thr574Ala) http://identifiers.org/clinvar/354237 ^@ NM_003664.4(AP3B1):c.1392T>G (p.Val464=) http://identifiers.org/clinvar/350382 ^@ NM_139281.2(WDR36):c.*2106T>C http://identifiers.org/clinvar/354238 ^@ NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) http://identifiers.org/clinvar/354240 ^@ NM_003664.4(AP3B1):c.1184A>G (p.Asn395Ser) http://identifiers.org/clinvar/354245 ^@ NM_003664.4(AP3B1):c.942G>A (p.Ala314=) http://identifiers.org/clinvar/354246 ^@ NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) http://identifiers.org/clinvar/350396 ^@ NM_139281.2(WDR36):c.*2764C>A http://identifiers.org/clinvar/354247 ^@ NM_003664.4(AP3B1):c.720G>A (p.Gly240=) http://identifiers.org/clinvar/357081 ^@ NM_020745.3(AARS2):c.408T>C (p.Asn136=) http://identifiers.org/clinvar/354248 ^@ NM_003664.4(AP3B1):c.557A>C (p.Glu186Ala) http://identifiers.org/clinvar/350383 ^@ NM_139281.2(WDR36):c.*2133C>A http://identifiers.org/clinvar/357082 ^@ NM_020745.3(AARS2):c.243+6G>A http://identifiers.org/clinvar/357090 ^@ NM_001024630.3(RUNX2):c.234G>A (p.Ala78=) http://identifiers.org/clinvar/350385 ^@ NM_139281.2(WDR36):c.*2282_*2284delCTT http://identifiers.org/clinvar/357091 ^@ NM_001024630.3(RUNX2):c.581-9T>C http://identifiers.org/clinvar/357093 ^@ NM_001024630.3(RUNX2):c.859+10A>T http://identifiers.org/clinvar/350398 ^@ NM_139281.2(WDR36):c.*2892G>A http://identifiers.org/clinvar/357096 ^@ NM_001024630.3(RUNX2):c.1531G>A (p.Gly511Ser) http://identifiers.org/clinvar/357097 ^@ NM_001024630.3(RUNX2):c.*47C>T http://identifiers.org/clinvar/350394 ^@ NM_139281.2(WDR36):c.*2712C>A http://identifiers.org/clinvar/357102 ^@ NM_001024630.3(RUNX2):c.*608delT http://identifiers.org/clinvar/354249 ^@ NM_003664.4(AP3B1):c.537-9A>G http://identifiers.org/clinvar/354254 ^@ NM_003664.4(AP3B1):c.196A>G (p.Ile66Val) http://identifiers.org/clinvar/354340 ^@ NM_002454.2(MTRR):c.-26+11T>G http://identifiers.org/clinvar/357105 ^@ NM_001024630.3(RUNX2):c.*701C>G http://identifiers.org/clinvar/357106 ^@ NM_001024630.3(RUNX2):c.*794T>C http://identifiers.org/clinvar/350400 ^@ NM_139281.2(WDR36):c.*3102C>G http://identifiers.org/clinvar/350399 ^@ NM_139281.2(WDR36):c.*2927G>A http://identifiers.org/clinvar/350402 ^@ NM_139281.2(WDR36):c.*3238G>A http://identifiers.org/clinvar/350403 ^@ NM_139281.2(WDR36):c.*3382C>A http://identifiers.org/clinvar/357112 ^@ NM_001024630.3(RUNX2):c.*1437dupA http://identifiers.org/clinvar/354347 ^@ NM_002454.2(MTRR):c.371A>G (p.Tyr124Cys) http://identifiers.org/clinvar/357113 ^@ NM_001024630.3(RUNX2):c.*1448C>T http://identifiers.org/clinvar/357118 ^@ NM_001024630.3(RUNX2):c.*1762G>C http://identifiers.org/clinvar/354348 ^@ NM_002454.2(MTRR):c.378T>C (p.Thr126=) http://identifiers.org/clinvar/350404 ^@ NM_139281.2(WDR36):c.*3457A>G http://identifiers.org/clinvar/350405 ^@ NM_139281.2(WDR36):c.*3576A>G http://identifiers.org/clinvar/350408 ^@ NM_000038.5(APC):c.-70G>C http://identifiers.org/clinvar/350407 ^@ NM_139281.2(WDR36):c.*3598_*3602delTAATA http://identifiers.org/clinvar/357122 ^@ NM_001024630.3(RUNX2):c.*2199A>G http://identifiers.org/clinvar/350421 ^@ NM_000038.5(APC):c.7209G>A (p.Gln2403=) http://identifiers.org/clinvar/357129 ^@ NM_001024630.3(RUNX2):c.*2622G>C http://identifiers.org/clinvar/354259 ^@ NM_000046.3(ARSB):c.*3163T>C http://identifiers.org/clinvar/354268 ^@ NM_000046.3(ARSB):c.*2608G>A http://identifiers.org/clinvar/350427 ^@ NM_000038.5(APC):c.*210_*213delAATA http://identifiers.org/clinvar/350430 ^@ NM_000038.5(APC):c.*414dupA http://identifiers.org/clinvar/350411 ^@ NM_000038.5(APC):c.3210T>C (p.Asn1070=) http://identifiers.org/clinvar/350440 ^@ NM_000038.5(APC):c.*1132C>A http://identifiers.org/clinvar/354271 ^@ NM_000046.3(ARSB):c.*2287C>T http://identifiers.org/clinvar/354275 ^@ NM_000046.3(ARSB):c.*2013G>A http://identifiers.org/clinvar/350446 ^@ NM_000038.5(APC):c.*1320T>A http://identifiers.org/clinvar/350449 ^@ NM_000038.5(APC):c.*1609T>C http://identifiers.org/clinvar/357130 ^@ NM_001024630.3(RUNX2):c.*2657T>G http://identifiers.org/clinvar/350456 ^@ NM_000038.5(APC):c.*2087C>A http://identifiers.org/clinvar/357136 ^@ NM_001024630.3(RUNX2):c.*2845A>C http://identifiers.org/clinvar/350415 ^@ NM_000038.5(APC):c.5840C>G (p.Thr1947Ser) http://identifiers.org/clinvar/350418 ^@ NM_000038.5(APC):c.6492C>T (p.Gly2164=) http://identifiers.org/clinvar/354277 ^@ NM_000046.3(ARSB):c.*1899dupC http://identifiers.org/clinvar/357139 ^@ NM_001024630.3(RUNX2):c.*3030C>T http://identifiers.org/clinvar/354288 ^@ NM_000046.3(ARSB):c.*1286C>T http://identifiers.org/clinvar/350423 ^@ NM_000038.5(APC):c.7903A>G (p.Thr2635Ala) http://identifiers.org/clinvar/350424 ^@ NM_000038.5(APC):c.8033A>G (p.Asn2678Ser) http://identifiers.org/clinvar/354290 ^@ NM_000046.3(ARSB):c.*1257A>C http://identifiers.org/clinvar/350462 ^@ NM_000414.3(HSD17B4):c.718G>A (p.Gly240Arg) http://identifiers.org/clinvar/350466 ^@ NM_000414.3(HSD17B4):c.1357C>T (p.Leu453Phe) http://identifiers.org/clinvar/354295 ^@ NM_000046.3(ARSB):c.*793T>A http://identifiers.org/clinvar/357146 ^@ NM_001024630.3(RUNX2):c.*3605C>T http://identifiers.org/clinvar/350426 ^@ NM_000038.5(APC):c.*142C>T http://identifiers.org/clinvar/357148 ^@ NM_001024630.3(RUNX2):c.*3693A>G http://identifiers.org/clinvar/350432 ^@ NM_000038.5(APC):c.*551T>C http://identifiers.org/clinvar/350434 ^@ NM_000038.5(APC):c.*624A>C http://identifiers.org/clinvar/354298 ^@ NM_000046.3(ARSB):c.*618C>T http://identifiers.org/clinvar/357150 ^@ NM_012120.2(CD2AP):c.-441C>G http://identifiers.org/clinvar/354300 ^@ NM_000046.3(ARSB):c.*212A>G http://identifiers.org/clinvar/350437 ^@ NM_000038.5(APC):c.*913T>C http://identifiers.org/clinvar/350441 ^@ NM_000038.5(APC):c.*1164G>A http://identifiers.org/clinvar/350468 ^@ NM_000414.3(HSD17B4):c.1628G>A (p.Arg543His) http://identifiers.org/clinvar/350477 ^@ NM_000414.3(HSD17B4):c.*278T>A http://identifiers.org/clinvar/350482 ^@ NM_005460.3(SNCAIP):c.81G>A (p.Thr27=) http://identifiers.org/clinvar/350487 ^@ NM_005460.3(SNCAIP):c.636C>T (p.Pro212=) http://identifiers.org/clinvar/354351 ^@ NM_002454.2(MTRR):c.487A>G (p.Ile163Val) http://identifiers.org/clinvar/350442 ^@ NM_000038.5(APC):c.*1203A>C http://identifiers.org/clinvar/357154 ^@ NM_012120.2(CD2AP):c.-297G>C http://identifiers.org/clinvar/357157 ^@ NM_012120.2(CD2AP):c.-192A>C http://identifiers.org/clinvar/350447 ^@ NM_000038.5(APC):c.*1497C>T http://identifiers.org/clinvar/354302 ^@ NM_000046.3(ARSB):c.*60G>A http://identifiers.org/clinvar/354308 ^@ NM_000046.3(ARSB):c.1337-3T>A http://identifiers.org/clinvar/357164 ^@ NM_012120.2(CD2AP):c.326A>G (p.Lys109Arg) http://identifiers.org/clinvar/357167 ^@ NM_012120.2(CD2AP):c.530A>G (p.Gln177Arg) http://identifiers.org/clinvar/357168 ^@ NM_012120.2(CD2AP):c.541+14T>A http://identifiers.org/clinvar/354360 ^@ NM_002454.2(MTRR):c.1138C>A (p.Pro380Thr) http://identifiers.org/clinvar/354310 ^@ NM_000046.3(ARSB):c.1078C>T (p.Leu360=) http://identifiers.org/clinvar/350450 ^@ NM_000038.5(APC):c.*1834T>G http://identifiers.org/clinvar/350454 ^@ NM_000038.5(APC):c.*1970T>G http://identifiers.org/clinvar/354362 ^@ NM_002454.2(MTRR):c.1248T>C (p.Phe416=) http://identifiers.org/clinvar/354312 ^@ NM_000046.3(ARSB):c.550A>G (p.Ile184Val) http://identifiers.org/clinvar/350455 ^@ NM_000038.5(APC):c.*2005T>G http://identifiers.org/clinvar/350490 ^@ NM_005460.3(SNCAIP):c.688A>G (p.Lys230Glu) http://identifiers.org/clinvar/357173 ^@ NM_012120.2(CD2AP):c.1188C>G (p.Thr396=) http://identifiers.org/clinvar/350492 ^@ NM_005460.3(SNCAIP):c.786A>C (p.Thr262=) http://identifiers.org/clinvar/350494 ^@ NM_005460.3(SNCAIP):c.1218C>T (p.Ser406=) http://identifiers.org/clinvar/357174 ^@ NM_012120.2(CD2AP):c.1404C>T (p.Thr468=) http://identifiers.org/clinvar/357179 ^@ NM_012120.2(CD2AP):c.1673C>T (p.Ala558Val) http://identifiers.org/clinvar/350459 ^@ NM_000414.3(HSD17B4):c.-27G>C http://identifiers.org/clinvar/350467 ^@ NM_000414.3(HSD17B4):c.1596T>C (p.His532=) http://identifiers.org/clinvar/350471 ^@ NM_000414.3(HSD17B4):c.*83T>G http://identifiers.org/clinvar/350476 ^@ NM_000414.3(HSD17B4):c.*260A>G http://identifiers.org/clinvar/354323 ^@ NM_000046.3(ARSB):c.-302A>G http://identifiers.org/clinvar/357183 ^@ NM_012120.2(CD2AP):c.*367delT http://identifiers.org/clinvar/357192 ^@ NM_012120.2(CD2AP):c.*490_*495delGTGTGT http://identifiers.org/clinvar/350498 ^@ NM_005460.3(SNCAIP):c.2125G>C (p.Glu709Gln) http://identifiers.org/clinvar/350500 ^@ NM_005460.3(SNCAIP):c.2140G>A (p.Ala714Thr) http://identifiers.org/clinvar/350502 ^@ NM_005460.3(SNCAIP):c.2417G>A (p.Arg806His) http://identifiers.org/clinvar/357195 ^@ NM_012120.2(CD2AP):c.*492G>A http://identifiers.org/clinvar/357194 ^@ NM_012120.2(CD2AP):c.*492_*497delGTGTAT http://identifiers.org/clinvar/354324 ^@ NM_000046.3(ARSB):c.-313dupT http://identifiers.org/clinvar/354329 ^@ NM_000046.3(ARSB):c.-590A>T http://identifiers.org/clinvar/357208 ^@ NM_012120.2(CD2AP):c.*496A>G http://identifiers.org/clinvar/357207 ^@ NM_012120.2(CD2AP):c.*496_*504delATATATATAinsGTGTG http://identifiers.org/clinvar/354331 ^@ NM_000046.3(ARSB):c.-840_-839dupCA http://identifiers.org/clinvar/354332 ^@ NM_000046.3(ARSB):c.-848C>T http://identifiers.org/clinvar/357210 ^@ NM_012120.2(CD2AP):c.*500A>G http://identifiers.org/clinvar/354335 ^@ NM_000046.3(ARSB):c.-958A>G http://identifiers.org/clinvar/350507 ^@ NM_005460.3(SNCAIP):c.*102A>G http://identifiers.org/clinvar/350508 ^@ NM_005460.3(SNCAIP):c.*170A>G http://identifiers.org/clinvar/350511 ^@ NM_005460.3(SNCAIP):c.*574dupG http://identifiers.org/clinvar/354336 ^@ NM_000046.3(ARSB):c.-1015A>G http://identifiers.org/clinvar/350513 ^@ NM_198253.2(TERT):c.*153C>T http://identifiers.org/clinvar/357220 ^@ NM_012120.2(CD2AP):c.*1927T>G http://identifiers.org/clinvar/350480 ^@ NM_005460.3(SNCAIP):c.-47+3G>A http://identifiers.org/clinvar/354367 ^@ NM_002454.2(MTRR):c.*222A>G http://identifiers.org/clinvar/357227 ^@ NM_012120.2(CD2AP):c.*2241A>T http://identifiers.org/clinvar/357228 ^@ NM_012120.2(CD2AP):c.*2339T>C http://identifiers.org/clinvar/357229 ^@ NM_012120.2(CD2AP):c.*2355G>A http://identifiers.org/clinvar/350515 ^@ NM_198253.2(TERT):c.*99C>T http://identifiers.org/clinvar/350518 ^@ NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) http://identifiers.org/clinvar/350593 ^@ NM_198253.2(TERT):c.2886C>T (p.Arg962=) http://identifiers.org/clinvar/350481 ^@ NM_005460.3(SNCAIP):c.-13G>T http://identifiers.org/clinvar/357233 ^@ NM_012120.2(CD2AP):c.*2705A>G http://identifiers.org/clinvar/354369 ^@ NM_002454.2(MTRR):c.*427T>C http://identifiers.org/clinvar/357235 ^@ NM_000255.3(MUT):c.*1326G>A http://identifiers.org/clinvar/357237 ^@ NM_000255.3(MUT):c.*1214C>A http://identifiers.org/clinvar/357247 ^@ NM_000255.3(MUT):c.*201delA http://identifiers.org/clinvar/354372 ^@ NM_002454.2(MTRR):c.*644A>G http://identifiers.org/clinvar/354376 ^@ NM_002454.2(MTRR):c.*826delC http://identifiers.org/clinvar/354377 ^@ NM_002454.2(MTRR):c.*853G>A http://identifiers.org/clinvar/350483 ^@ NM_005460.3(SNCAIP):c.204T>C (p.Asp68=) http://identifiers.org/clinvar/354378 ^@ NM_002454.2(MTRR):c.*884T>C http://identifiers.org/clinvar/357249 ^@ NM_000255.3(MUT):c.*162A>C http://identifiers.org/clinvar/350521 ^@ NM_001182.4(ALDH7A1):c.*2997dupT http://identifiers.org/clinvar/357256 ^@ NM_000255.3(MUT):c.1762C>T (p.Arg588Cys) http://identifiers.org/clinvar/354383 ^@ NM_004385.4(VCAN):c.-259C>T http://identifiers.org/clinvar/357265 ^@ NM_000255.3(MUT):c.-135G>T http://identifiers.org/clinvar/350485 ^@ NM_005460.3(SNCAIP):c.444C>T (p.Leu148=) http://identifiers.org/clinvar/350523 ^@ NM_001182.4(ALDH7A1):c.*2820dupT http://identifiers.org/clinvar/357267 ^@ NM_000255.3(MUT):c.-198A>T http://identifiers.org/clinvar/354388 ^@ NM_004385.4(VCAN):c.109T>G (p.Ser37Ala) http://identifiers.org/clinvar/350531 ^@ NM_001182.4(ALDH7A1):c.*2499G>A http://identifiers.org/clinvar/350532 ^@ NM_001182.4(ALDH7A1):c.*2492C>T http://identifiers.org/clinvar/357268 ^@ NM_003221.3(TFAP2B):c.-147C>T http://identifiers.org/clinvar/357269 ^@ NM_003221.3(TFAP2B):c.-106A>T http://identifiers.org/clinvar/350550 ^@ NM_001182.4(ALDH7A1):c.*1693A>C http://identifiers.org/clinvar/354395 ^@ NM_004385.4(VCAN):c.1043-10A>G http://identifiers.org/clinvar/350557 ^@ NM_001182.4(ALDH7A1):c.*1209G>A http://identifiers.org/clinvar/354396 ^@ NM_004385.4(VCAN):c.1045A>G (p.Lys349Glu) http://identifiers.org/clinvar/354399 ^@ NM_004385.4(VCAN):c.1794G>A (p.Glu598=) http://identifiers.org/clinvar/350579 ^@ NM_001182.4(ALDH7A1):c.*403C>T http://identifiers.org/clinvar/350580 ^@ NM_001182.4(ALDH7A1):c.*68A>G http://identifiers.org/clinvar/350489 ^@ NM_005460.3(SNCAIP):c.672C>T (p.Val224=) http://identifiers.org/clinvar/357276 ^@ NM_003221.3(TFAP2B):c.522C>G (p.Pro174=) http://identifiers.org/clinvar/350496 ^@ NM_005460.3(SNCAIP):c.1969C>T (p.Leu657=) http://identifiers.org/clinvar/350497 ^@ NM_005460.3(SNCAIP):c.2022A>G (p.Ser674=) http://identifiers.org/clinvar/350584 ^@ NM_001182.4(ALDH7A1):c.518-8G>A http://identifiers.org/clinvar/350585 ^@ NM_001182.4(ALDH7A1):c.394-15G>A http://identifiers.org/clinvar/354404 ^@ NM_004385.4(VCAN):c.2220T>C (p.Ser740=) http://identifiers.org/clinvar/357284 ^@ NM_003221.3(TFAP2B):c.1235C>G (p.Ala412Gly) http://identifiers.org/clinvar/357292 ^@ NM_003221.3(TFAP2B):c.*178C>T http://identifiers.org/clinvar/350588 ^@ NM_001182.4(ALDH7A1):c.-60G>A http://identifiers.org/clinvar/357294 ^@ NM_003221.3(TFAP2B):c.*369C>T http://identifiers.org/clinvar/350592 ^@ NM_001182.4(ALDH7A1):c.-151C>T http://identifiers.org/clinvar/350595 ^@ NM_005573.3(LMNB1):c.-705G>T http://identifiers.org/clinvar/354412 ^@ NM_004385.4(VCAN):c.3094C>G (p.Gln1032Glu) http://identifiers.org/clinvar/357295 ^@ NM_003221.3(TFAP2B):c.*477C>T http://identifiers.org/clinvar/354413 ^@ NM_004385.4(VCAN):c.3103T>G (p.Phe1035Val) http://identifiers.org/clinvar/350598 ^@ NM_005573.3(LMNB1):c.-635T>C http://identifiers.org/clinvar/354419 ^@ NM_004385.4(VCAN):c.3683C>T (p.Ala1228Val) http://identifiers.org/clinvar/350605 ^@ NM_005573.3(LMNB1):c.-491T>C http://identifiers.org/clinvar/354423 ^@ NM_004385.4(VCAN):c.4272A>G (p.Pro1424=) http://identifiers.org/clinvar/360661 ^@ NM_000501.3(ELN):c.2077C>T (p.Pro693Ser) http://identifiers.org/clinvar/301520 ^@ NG_009089.2:g.5313A>G http://identifiers.org/clinvar/301521 ^@ NG_009089.2:g.5337C>A http://identifiers.org/clinvar/360524 ^@ NM_004577.3(PSPH):c.-339T>C http://identifiers.org/clinvar/301529 ^@ NM_000043.5(FAS):c.444-5delT http://identifiers.org/clinvar/360662 ^@ NM_000501.3(ELN):c.2109C>T (p.Phe703=) http://identifiers.org/clinvar/360672 ^@ NM_000501.3(ELN):c.*548G>A http://identifiers.org/clinvar/360676 ^@ NM_000501.3(ELN):c.*636G>A http://identifiers.org/clinvar/301531 ^@ NM_000043.5(FAS):c.867A>C (p.Glu289Asp) http://identifiers.org/clinvar/301533 ^@ NM_000043.5(FAS):c.*88T>C http://identifiers.org/clinvar/365557 ^@ NM_139025.4(ADAMTS13):c.2915G>A (p.Arg972Gln) http://identifiers.org/clinvar/360679 ^@ NM_000501.3(ELN):c.*794C>T http://identifiers.org/clinvar/360686 ^@ NM_000941.2(POR):c.-47A>C http://identifiers.org/clinvar/365560 ^@ NM_139025.4(ADAMTS13):c.3044+10C>T http://identifiers.org/clinvar/360526 ^@ NM_004577.3(PSPH):c.-430T>G http://identifiers.org/clinvar/365565 ^@ NM_139025.4(ADAMTS13):c.3663C>T (p.Leu1221=) http://identifiers.org/clinvar/301535 ^@ NM_000043.5(FAS):c.*174A>G http://identifiers.org/clinvar/365567 ^@ NM_139025.4(ADAMTS13):c.3826G>A (p.Gly1276Arg) http://identifiers.org/clinvar/301536 ^@ NM_000043.5(FAS):c.*520T>C http://identifiers.org/clinvar/360528 ^@ NM_004577.3(PSPH):c.-456T>C http://identifiers.org/clinvar/360532 ^@ NM_004577.3(PSPH):c.-632C>T http://identifiers.org/clinvar/360534 ^@ NM_004577.3(PSPH):c.-683G>C http://identifiers.org/clinvar/301537 ^@ NM_000043.5(FAS):c.*565A>T http://identifiers.org/clinvar/360692 ^@ NM_000941.2(POR):c.158A>T (p.Glu53Val) http://identifiers.org/clinvar/365568 ^@ NM_139025.4(ADAMTS13):c.4109C>T (p.Ala1370Val) http://identifiers.org/clinvar/360535 ^@ NM_004577.3(PSPH):c.-708C>G http://identifiers.org/clinvar/360696 ^@ NM_000941.2(POR):c.325G>A (p.Gly109Arg) http://identifiers.org/clinvar/301541 ^@ NM_000043.5(FAS):c.*765T>C http://identifiers.org/clinvar/365581 ^@ NM_014694.3(ADAMTSL2):c.774C>T (p.Asp258=) http://identifiers.org/clinvar/360539 ^@ NM_004577.3(PSPH):c.-720G>T http://identifiers.org/clinvar/301546 ^@ NM_000043.5(FAS):c.*1333G>T http://identifiers.org/clinvar/360542 ^@ NM_000535.6(PMS2):c.1918G>A (p.Glu640Lys) http://identifiers.org/clinvar/360545 ^@ NM_000535.6(PMS2):c.-46T>A http://identifiers.org/clinvar/301555 ^@ NM_000235.3(LIPA):c.*909T>A http://identifiers.org/clinvar/365584 ^@ NM_014694.3(ADAMTSL2):c.900C>T (p.Ile300=) http://identifiers.org/clinvar/365585 ^@ NM_014694.3(ADAMTSL2):c.939+11C>T http://identifiers.org/clinvar/365588 ^@ NM_014694.3(ADAMTSL2):c.1074C>T (p.Ala358=) http://identifiers.org/clinvar/301563 ^@ NM_000235.3(LIPA):c.*618G>C http://identifiers.org/clinvar/365590 ^@ NM_014694.3(ADAMTSL2):c.1198G>A (p.Gly400Ser) http://identifiers.org/clinvar/365591 ^@ NM_014694.3(ADAMTSL2):c.1230C>T (p.Ala410=) http://identifiers.org/clinvar/360704 ^@ NM_000941.2(POR):c.830+2dupT http://identifiers.org/clinvar/360705 ^@ NM_000941.2(POR):c.830+15C>T http://identifiers.org/clinvar/301564 ^@ NM_000235.3(LIPA):c.*573T>A http://identifiers.org/clinvar/360707 ^@ NM_000941.2(POR):c.947+3A>G http://identifiers.org/clinvar/360708 ^@ NM_000941.2(POR):c.948-14A>C http://identifiers.org/clinvar/301567 ^@ NM_000235.3(LIPA):c.*508C>T http://identifiers.org/clinvar/360714 ^@ NM_000941.2(POR):c.1594A>G (p.Ile532Val) http://identifiers.org/clinvar/301576 ^@ NM_000235.3(LIPA):c.754A>T (p.Ile252Leu) http://identifiers.org/clinvar/301577 ^@ NM_000235.3(LIPA):c.713C>T (p.Ala238Val) http://identifiers.org/clinvar/301583 ^@ NM_000235.3(LIPA):c.230-15A>G http://identifiers.org/clinvar/360546 ^@ NM_000535.6(PMS2):c.-48C>A http://identifiers.org/clinvar/360553 ^@ NM_000181.3(GUSB):c.216C>T (p.Gly72=) http://identifiers.org/clinvar/365601 ^@ NM_014694.3(ADAMTSL2):c.2049C>T (p.Pro683=) http://identifiers.org/clinvar/301584 ^@ NM_000235.3(LIPA):c.111+13A>G http://identifiers.org/clinvar/365603 ^@ NM_014694.3(ADAMTSL2):c.2142G>A (p.Ser714=) http://identifiers.org/clinvar/301588 ^@ NM_000235.3(LIPA):c.-71C>A http://identifiers.org/clinvar/360559 ^@ NM_000181.3(GUSB):c.-19G>C http://identifiers.org/clinvar/360718 ^@ NM_000941.2(POR):c.1815+7C>T http://identifiers.org/clinvar/360719 ^@ NM_000941.2(POR):c.1815+8G>A http://identifiers.org/clinvar/365606 ^@ NM_014694.3(ADAMTSL2):c.2506G>A (p.Glu836Lys) http://identifiers.org/clinvar/301590 ^@ NM_000235.3(LIPA):c.-85C>A http://identifiers.org/clinvar/365609 ^@ NM_014694.3(ADAMTSL2):c.2520C>T (p.Ala840=) http://identifiers.org/clinvar/360571 ^@ NM_000048.3(ASL):c.*11A>G http://identifiers.org/clinvar/360577 ^@ NM_153033.4(KCTD7):c.-170G>T http://identifiers.org/clinvar/365612 ^@ NM_014694.3(ADAMTSL2):c.2689G>A (p.Val897Ile) http://identifiers.org/clinvar/365614 ^@ NM_014694.3(ADAMTSL2):c.*158G>A http://identifiers.org/clinvar/365623 ^@ NM_014694.3(ADAMTSL2):c.*566G>A http://identifiers.org/clinvar/301591 ^@ NM_000235.3(LIPA):c.-123G>A http://identifiers.org/clinvar/301592 ^@ NM_014391.2(ANKRD1):c.*627A>G http://identifiers.org/clinvar/365624 ^@ NM_014694.3(ADAMTSL2):c.*577G>A http://identifiers.org/clinvar/365630 ^@ NM_000787.3(DBH):c.105C>T (p.Ala35=) http://identifiers.org/clinvar/365644 ^@ NM_000787.3(DBH):c.744+8C>T http://identifiers.org/clinvar/301593 ^@ NM_014391.2(ANKRD1):c.*607C>A http://identifiers.org/clinvar/360585 ^@ NM_153033.4(KCTD7):c.18G>C (p.Gly6=) http://identifiers.org/clinvar/365648 ^@ NM_000787.3(DBH):c.849C>T (p.Cys283=) http://identifiers.org/clinvar/365651 ^@ NM_000787.3(DBH):c.921+8C>T http://identifiers.org/clinvar/360586 ^@ NM_153033.4(KCTD7):c.369A>C (p.Arg123=) http://identifiers.org/clinvar/301599 ^@ NM_014391.2(ANKRD1):c.*343A>G http://identifiers.org/clinvar/301604 ^@ NM_014391.2(ANKRD1):c.909C>T (p.Phe303=) http://identifiers.org/clinvar/365662 ^@ NM_000787.3(DBH):c.1451T>C (p.Leu484Pro) http://identifiers.org/clinvar/360721 ^@ NM_000941.2(POR):c.1898+13G>T http://identifiers.org/clinvar/360725 ^@ NM_000941.2(POR):c.*76G>A http://identifiers.org/clinvar/365675 ^@ NM_000787.3(DBH):c.1825G>A (p.Val609Ile) http://identifiers.org/clinvar/360588 ^@ NM_153033.4(KCTD7):c.749C>T (p.Thr250Met) http://identifiers.org/clinvar/365677 ^@ NM_000787.3(DBH):c.1840G>A (p.Gly614Arg) http://identifiers.org/clinvar/301611 ^@ NM_014391.2(ANKRD1):c.-131C>T http://identifiers.org/clinvar/365678 ^@ NM_000787.3(DBH):c.*100C>T http://identifiers.org/clinvar/360589 ^@ NM_153033.4(KCTD7):c.*55C>T http://identifiers.org/clinvar/360736 ^@ NM_001540.3(HSPB1):c.-4C>T http://identifiers.org/clinvar/365680 ^@ NM_000787.3(DBH):c.*213A>C http://identifiers.org/clinvar/360738 ^@ NM_001540.3(HSPB1):c.383A>G (p.Gln128Arg) http://identifiers.org/clinvar/301614 ^@ NM_006204.3(PDE6C):c.-21C>T http://identifiers.org/clinvar/360743 ^@ NM_001001547.2(CD36):c.-286C>A http://identifiers.org/clinvar/365683 ^@ NM_000787.3(DBH):c.*283A>C http://identifiers.org/clinvar/360755 ^@ NM_001001547.2(CD36):c.374C>T (p.Ser125Leu) http://identifiers.org/clinvar/360593 ^@ NM_153033.4(KCTD7):c.*668T>G http://identifiers.org/clinvar/360598 ^@ NM_153033.4(KCTD7):c.*880T>C http://identifiers.org/clinvar/360610 ^@ NM_153033.4(KCTD7):c.*1810C>T http://identifiers.org/clinvar/301620 ^@ NM_006204.3(PDE6C):c.446C>T (p.Thr149Met) http://identifiers.org/clinvar/360612 ^@ NM_153033.4(KCTD7):c.*1926G>A http://identifiers.org/clinvar/360757 ^@ NM_001001547.2(CD36):c.405C>G (p.Phe135Leu) http://identifiers.org/clinvar/365686 ^@ NM_000787.3(DBH):c.*383C>T http://identifiers.org/clinvar/301627 ^@ NM_006204.3(PDE6C):c.939+9A>G http://identifiers.org/clinvar/365687 ^@ NM_000787.3(DBH):c.*389_*390insACCCCC http://identifiers.org/clinvar/365699 ^@ NM_000093.4(COL5A1):c.-287G>C http://identifiers.org/clinvar/301630 ^@ NM_006204.3(PDE6C):c.1072-8C>T http://identifiers.org/clinvar/360758 ^@ NM_001001547.2(CD36):c.429+15A>G http://identifiers.org/clinvar/360759 ^@ NM_001001547.2(CD36):c.456A>G (p.Gln152=) http://identifiers.org/clinvar/360760 ^@ NM_001001547.2(CD36):c.640G>A (p.Val214Ile) http://identifiers.org/clinvar/365700 ^@ NM_000093.4(COL5A1):c.-261_-259dupAGG http://identifiers.org/clinvar/360764 ^@ NM_001001547.2(CD36):c.1000A>G (p.Lys334Glu) http://identifiers.org/clinvar/365701 ^@ NM_000093.4(COL5A1):c.-247T>G http://identifiers.org/clinvar/360766 ^@ NM_001001547.2(CD36):c.1126-15T>C http://identifiers.org/clinvar/365707 ^@ NM_000093.4(COL5A1):c.739G>A (p.Ala247Thr) http://identifiers.org/clinvar/365709 ^@ NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) http://identifiers.org/clinvar/365710 ^@ NM_000093.4(COL5A1):c.1270A>G (p.Thr424Ala) http://identifiers.org/clinvar/301639 ^@ NM_006204.3(PDE6C):c.2190C>G (p.Pro730=) http://identifiers.org/clinvar/301644 ^@ NM_006204.3(PDE6C):c.2512G>A (p.Glu838Lys) http://identifiers.org/clinvar/365711 ^@ NM_000093.4(COL5A1):c.1332+4dupA http://identifiers.org/clinvar/365712 ^@ NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) http://identifiers.org/clinvar/365715 ^@ NM_000093.4(COL5A1):c.2182G>A (p.Ala728Thr) http://identifiers.org/clinvar/360626 ^@ NM_153033.4(KCTD7):c.*3508G>T http://identifiers.org/clinvar/301646 ^@ NM_006204.3(PDE6C):c.*87C>T http://identifiers.org/clinvar/360628 ^@ NM_153033.4(KCTD7):c.*3825T>A http://identifiers.org/clinvar/360629 ^@ NM_153033.4(KCTD7):c.*3836T>G http://identifiers.org/clinvar/301653 ^@ NM_005097.3(LGI1):c.-168G>A http://identifiers.org/clinvar/360768 ^@ NM_001001547.2(CD36):c.1181_1185dupAGCCA (p.Glu397Hisfs) http://identifiers.org/clinvar/360770 ^@ NM_001001547.2(CD36):c.1279G>T (p.Ala427Ser) http://identifiers.org/clinvar/360775 ^@ NM_000601.5(HGF):c.*101A>G http://identifiers.org/clinvar/360648 ^@ NM_000501.3(ELN):c.1232T>G (p.Val411Gly) http://identifiers.org/clinvar/360653 ^@ NM_000501.3(ELN):c.1338C>T (p.Ala446=) http://identifiers.org/clinvar/360660 ^@ NM_000501.3(ELN):c.1909G>A (p.Ala637Thr) http://identifiers.org/clinvar/360664 ^@ NM_000501.3(ELN):c.*172G>A http://identifiers.org/clinvar/301655 ^@ NM_005097.3(LGI1):c.135G>C (p.Val45=) http://identifiers.org/clinvar/360674 ^@ NM_000501.3(ELN):c.*570G>A http://identifiers.org/clinvar/365721 ^@ NM_000093.4(COL5A1):c.3573A>G (p.Pro1191=) http://identifiers.org/clinvar/360678 ^@ NM_000501.3(ELN):c.*663C>T http://identifiers.org/clinvar/301658 ^@ NM_005097.3(LGI1):c.1125G>C (p.Ala375=) http://identifiers.org/clinvar/301659 ^@ NM_005097.3(LGI1):c.1336A>C (p.Ile446Leu) http://identifiers.org/clinvar/360682 ^@ NM_000501.3(ELN):c.*1145dupT http://identifiers.org/clinvar/301662 ^@ NM_005097.3(LGI1):c.*215T>C http://identifiers.org/clinvar/365722 ^@ NM_000093.4(COL5A1):c.3627C>T (p.Phe1209=) http://identifiers.org/clinvar/365730 ^@ NM_000093.4(COL5A1):c.4791T>C (p.Asn1597=) http://identifiers.org/clinvar/360684 ^@ NM_000501.3(ELN):c.*1195C>T http://identifiers.org/clinvar/301668 ^@ NM_016341.3(PLCE1):c.-525T>C http://identifiers.org/clinvar/360685 ^@ NM_000941.2(POR):c.-80A>C http://identifiers.org/clinvar/301669 ^@ NM_016341.3(PLCE1):c.-468A>G http://identifiers.org/clinvar/365736 ^@ NM_000093.4(COL5A1):c.5439G>T (p.Val1813=) http://identifiers.org/clinvar/301673 ^@ NM_016341.3(PLCE1):c.-226delC http://identifiers.org/clinvar/301675 ^@ NM_016341.3(PLCE1):c.-160G>A http://identifiers.org/clinvar/360693 ^@ NM_000941.2(POR):c.159A>C (p.Glu53Asp) http://identifiers.org/clinvar/301677 ^@ NM_016341.3(PLCE1):c.-54G>T http://identifiers.org/clinvar/301678 ^@ NM_016341.3(PLCE1):c.-47A>G http://identifiers.org/clinvar/360779 ^@ NM_000601.5(HGF):c.1041-6C>T http://identifiers.org/clinvar/360781 ^@ NM_000601.5(HGF):c.800C>T (p.Pro267Leu) http://identifiers.org/clinvar/360697 ^@ NM_000941.2(POR):c.366+14G>A http://identifiers.org/clinvar/301679 ^@ NM_016341.3(PLCE1):c.72G>A (p.Ser24=) http://identifiers.org/clinvar/301685 ^@ NM_016341.3(PLCE1):c.576A>C (p.Glu192Asp) http://identifiers.org/clinvar/360699 ^@ NM_000941.2(POR):c.399C>T (p.Asn133=) http://identifiers.org/clinvar/301690 ^@ NM_016341.3(PLCE1):c.724A>C (p.Lys242Gln) http://identifiers.org/clinvar/360702 ^@ NM_000941.2(POR):c.642-5C>G http://identifiers.org/clinvar/301693 ^@ NM_016341.3(PLCE1):c.1290G>A (p.Glu430=) http://identifiers.org/clinvar/301695 ^@ NM_016341.3(PLCE1):c.1383A>G (p.Ser461=) http://identifiers.org/clinvar/301707 ^@ NM_016341.3(PLCE1):c.2635C>T (p.Arg879Cys) http://identifiers.org/clinvar/360711 ^@ NM_000941.2(POR):c.1501G>A (p.Glu501Lys) http://identifiers.org/clinvar/301708 ^@ NM_016341.3(PLCE1):c.2728G>A (p.Val910Ile) http://identifiers.org/clinvar/360742 ^@ NM_001001547.2(CD36):c.-297G>A http://identifiers.org/clinvar/301717 ^@ NM_016341.3(PLCE1):c.3990C>T (p.Asn1330=) http://identifiers.org/clinvar/360747 ^@ NM_001001547.2(CD36):c.-150T>A http://identifiers.org/clinvar/301722 ^@ NM_016341.3(PLCE1):c.4447A>G (p.Ile1483Val) http://identifiers.org/clinvar/301724 ^@ NM_016341.3(PLCE1):c.4810G>T (p.Asp1604Tyr) http://identifiers.org/clinvar/365741 ^@ NM_000093.4(COL5A1):c.*83C>T http://identifiers.org/clinvar/365743 ^@ NM_000093.4(COL5A1):c.*173C>T http://identifiers.org/clinvar/365757 ^@ NM_000093.4(COL5A1):c.*700G>C http://identifiers.org/clinvar/360784 ^@ NM_000601.5(HGF):c.137C>T (p.Ala46Val) http://identifiers.org/clinvar/301727 ^@ NM_016341.3(PLCE1):c.5139A>T (p.Thr1713=) http://identifiers.org/clinvar/365759 ^@ NM_000093.4(COL5A1):c.*724C>T http://identifiers.org/clinvar/301728 ^@ NM_016341.3(PLCE1):c.5168-6G>T http://identifiers.org/clinvar/301731 ^@ NM_016341.3(PLCE1):c.5782G>A (p.Val1928Ile) http://identifiers.org/clinvar/360748 ^@ NM_001001547.2(CD36):c.-132A>C http://identifiers.org/clinvar/301736 ^@ NM_016341.3(PLCE1):c.*116T>C http://identifiers.org/clinvar/360749 ^@ NM_001001547.2(CD36):c.-27C>T http://identifiers.org/clinvar/301741 ^@ NM_016341.3(PLCE1):c.*268T>C http://identifiers.org/clinvar/365767 ^@ NM_000093.4(COL5A1):c.*1047_*1049dupATT http://identifiers.org/clinvar/301751 ^@ NM_002860.3(ALDH18A1):c.*227A>G http://identifiers.org/clinvar/360786 ^@ NM_000601.5(HGF):c.4T>C (p.Trp2Arg) http://identifiers.org/clinvar/360787 ^@ NM_000601.5(HGF):c.-40A>T http://identifiers.org/clinvar/365768 ^@ NM_000093.4(COL5A1):c.*1090_*1093delATCT http://identifiers.org/clinvar/301757 ^@ NM_002860.3(ALDH18A1):c.2194C>T (p.Arg732Cys) http://identifiers.org/clinvar/365772 ^@ NM_000093.4(COL5A1):c.*1443G>A http://identifiers.org/clinvar/365773 ^@ NM_000093.4(COL5A1):c.*1562A>G http://identifiers.org/clinvar/301760 ^@ NM_002860.3(ALDH18A1):c.2001G>A (p.Glu667=) http://identifiers.org/clinvar/301763 ^@ NM_002860.3(ALDH18A1):c.1740C>T (p.Ser580=) http://identifiers.org/clinvar/360752 ^@ NM_001001547.2(CD36):c.265G>T (p.Gly89Cys) http://identifiers.org/clinvar/365777 ^@ NM_000093.4(COL5A1):c.*1734G>A http://identifiers.org/clinvar/360795 ^@ NM_000443.3(ABCB4):c.2055C>T (p.Thr685=) http://identifiers.org/clinvar/365782 ^@ NM_000093.4(COL5A1):c.*1845A>G http://identifiers.org/clinvar/360796 ^@ NM_000443.3(ABCB4):c.2047G>A (p.Val683Met) http://identifiers.org/clinvar/360799 ^@ NM_000443.3(ABCB4):c.1938T>C (p.Asp646=) http://identifiers.org/clinvar/365792 ^@ NM_000093.4(COL5A1):c.*2410C>G http://identifiers.org/clinvar/360754 ^@ NM_001001547.2(CD36):c.282-10A>G http://identifiers.org/clinvar/365796 ^@ NM_014564.4(LHX3):c.*1031A>G http://identifiers.org/clinvar/365797 ^@ NM_014564.4(LHX3):c.*956C>T http://identifiers.org/clinvar/360761 ^@ NM_001001547.2(CD36):c.649G>A (p.Gly217Arg) http://identifiers.org/clinvar/360763 ^@ NM_001001547.2(CD36):c.853C>T (p.Leu285=) http://identifiers.org/clinvar/365800 ^@ NM_014564.4(LHX3):c.*791G>A http://identifiers.org/clinvar/301764 ^@ NM_002860.3(ALDH18A1):c.1605+5G>A http://identifiers.org/clinvar/365807 ^@ NM_014564.4(LHX3):c.*409G>T http://identifiers.org/clinvar/301765 ^@ NM_002860.3(ALDH18A1):c.1596C>T (p.Ala532=) http://identifiers.org/clinvar/301768 ^@ NM_002860.3(ALDH18A1):c.1308G>A (p.Leu436=) http://identifiers.org/clinvar/360765 ^@ NM_001001547.2(CD36):c.1125+13C>A http://identifiers.org/clinvar/360774 ^@ NM_000601.5(HGF):c.*396A>T http://identifiers.org/clinvar/301777 ^@ NM_002860.3(ALDH18A1):c.-5G>A http://identifiers.org/clinvar/360783 ^@ NM_000601.5(HGF):c.147C>G (p.Thr49=) http://identifiers.org/clinvar/365810 ^@ NM_014564.4(LHX3):c.*161C>A http://identifiers.org/clinvar/365811 ^@ NM_014564.4(LHX3):c.*104delG http://identifiers.org/clinvar/360788 ^@ NM_000601.5(HGF):c.-44A>G http://identifiers.org/clinvar/360789 ^@ NM_000601.5(HGF):c.-94G>T http://identifiers.org/clinvar/365814 ^@ NM_014564.4(LHX3):c.*9C>T http://identifiers.org/clinvar/365815 ^@ NM_014564.4(LHX3):c.1107C>T (p.Asn369=) http://identifiers.org/clinvar/301782 ^@ NM_002860.3(ALDH18A1):c.-120A>G http://identifiers.org/clinvar/301785 ^@ NM_002860.3(ALDH18A1):c.-189T>C http://identifiers.org/clinvar/365816 ^@ NM_014564.4(LHX3):c.961G>C (p.Gly321Arg) http://identifiers.org/clinvar/301786 ^@ NM_002860.3(ALDH18A1):c.-223C>G http://identifiers.org/clinvar/301787 ^@ NM_138413.3(HOGA1):c.-279G>A http://identifiers.org/clinvar/301790 ^@ NM_138413.3(HOGA1):c.212-6T>C http://identifiers.org/clinvar/360791 ^@ NM_000443.3(ABCB4):c.3285C>T (p.Leu1095=) http://identifiers.org/clinvar/360806 ^@ NM_005751.4(AKAP9):c.-202_-200dupCGG http://identifiers.org/clinvar/360808 ^@ NM_005751.4(AKAP9):c.-160G>A http://identifiers.org/clinvar/360810 ^@ NM_005751.4(AKAP9):c.-120G>A http://identifiers.org/clinvar/301794 ^@ NM_138413.3(HOGA1):c.701-11_701-8dupACTT http://identifiers.org/clinvar/301797 ^@ NM_138413.3(HOGA1):c.828C>T (p.Asn276=) http://identifiers.org/clinvar/365817 ^@ NM_014564.4(LHX3):c.875C>T (p.Ser292Leu) http://identifiers.org/clinvar/365822 ^@ NM_014564.4(LHX3):c.160C>T (p.Arg54Cys) http://identifiers.org/clinvar/360793 ^@ NM_000443.3(ABCB4):c.2535T>C (p.Gly845=) http://identifiers.org/clinvar/301802 ^@ NM_138413.3(HOGA1):c.*204T>A http://identifiers.org/clinvar/360800 ^@ NM_000443.3(ABCB4):c.1858A>G (p.Lys620Glu) http://identifiers.org/clinvar/360805 ^@ NM_000443.3(ABCB4):c.-18G>T http://identifiers.org/clinvar/360819 ^@ NM_005751.4(AKAP9):c.2964A>T (p.Glu988Asp) http://identifiers.org/clinvar/301803 ^@ NM_138413.3(HOGA1):c.*288A>C http://identifiers.org/clinvar/360809 ^@ NM_005751.4(AKAP9):c.-124G>C http://identifiers.org/clinvar/365824 ^@ NM_014564.4(LHX3):c.-33A>G http://identifiers.org/clinvar/301804 ^@ NM_138413.3(HOGA1):c.*289C>T http://identifiers.org/clinvar/301805 ^@ NM_138413.3(HOGA1):c.*290G>A http://identifiers.org/clinvar/365827 ^@ NM_014564.4(LHX3):c.-82G>C http://identifiers.org/clinvar/360825 ^@ NM_005751.4(AKAP9):c.4164G>A (p.Ser1388=) http://identifiers.org/clinvar/360815 ^@ NM_005751.4(AKAP9):c.1183A>G (p.Lys395Glu) http://identifiers.org/clinvar/360820 ^@ NM_005751.4(AKAP9):c.3278A>G (p.Asp1093Gly) http://identifiers.org/clinvar/360826 ^@ NM_005751.4(AKAP9):c.4253G>A (p.Gly1418Asp) http://identifiers.org/clinvar/301808 ^@ NM_138413.3(HOGA1):c.*350dupA http://identifiers.org/clinvar/301822 ^@ NM_138413.3(HOGA1):c.*733C>T http://identifiers.org/clinvar/360822 ^@ NM_005751.4(AKAP9):c.3708A>T (p.Glu1236Asp) http://identifiers.org/clinvar/301825 ^@ NM_138413.3(HOGA1):c.*1047T>C http://identifiers.org/clinvar/360830 ^@ NM_005751.4(AKAP9):c.5496A>G (p.Gly1832=) http://identifiers.org/clinvar/301826 ^@ NM_138413.3(HOGA1):c.*1059A>C http://identifiers.org/clinvar/301830 ^@ NM_001002261.3(ZFYVE27):c.386G>A (p.Ser129Asn) http://identifiers.org/clinvar/365828 ^@ NM_052813.4(CARD9):c.*292T>C http://identifiers.org/clinvar/301831 ^@ NM_001002261.3(ZFYVE27):c.424C>T (p.Arg142Cys) http://identifiers.org/clinvar/301835 ^@ NM_001002261.3(ZFYVE27):c.522G>A (p.Leu174=) http://identifiers.org/clinvar/301840 ^@ NM_001002261.3(ZFYVE27):c.1182C>A (p.Ala394=) http://identifiers.org/clinvar/360836 ^@ NM_005751.4(AKAP9):c.6896A>G (p.Glu2299Gly) http://identifiers.org/clinvar/360847 ^@ NM_005751.4(AKAP9):c.10221G>A (p.Glu3407=) http://identifiers.org/clinvar/365829 ^@ NM_052813.4(CARD9):c.*244T>G http://identifiers.org/clinvar/365837 ^@ NM_052813.4(CARD9):c.1175C>T (p.Ala392Val) http://identifiers.org/clinvar/360851 ^@ NM_005751.4(AKAP9):c.10901C>G (p.Ser3634Cys) http://identifiers.org/clinvar/360833 ^@ NM_005751.4(AKAP9):c.5895G>A (p.Glu1965=) http://identifiers.org/clinvar/360854 ^@ NM_005751.4(AKAP9):c.11331-11A>T http://identifiers.org/clinvar/360834 ^@ NM_005751.4(AKAP9):c.6376A>C (p.Ser2126Arg) http://identifiers.org/clinvar/360850 ^@ NM_005751.4(AKAP9):c.10845G>A (p.Lys3615=) http://identifiers.org/clinvar/365852 ^@ NM_052813.4(CARD9):c.324C>T (p.Asp108=) http://identifiers.org/clinvar/301842 ^@ NM_001002261.3(ZFYVE27):c.*132C>T http://identifiers.org/clinvar/301850 ^@ NM_001002261.3(ZFYVE27):c.*696G>A http://identifiers.org/clinvar/301853 ^@ NM_001002261.3(ZFYVE27):c.*945G>A http://identifiers.org/clinvar/301854 ^@ NM_001002261.3(ZFYVE27):c.*1074C>G http://identifiers.org/clinvar/360853 ^@ NM_005751.4(AKAP9):c.11229G>T (p.Met3743Ile) http://identifiers.org/clinvar/360857 ^@ NM_005751.4(AKAP9):c.*79T>C http://identifiers.org/clinvar/360858 ^@ NM_005751.4(AKAP9):c.*116A>T http://identifiers.org/clinvar/365856 ^@ NM_052813.4(CARD9):c.228C>T (p.Tyr76=) http://identifiers.org/clinvar/301855 ^@ NM_001002261.3(ZFYVE27):c.*1148C>T http://identifiers.org/clinvar/365859 ^@ NM_052813.4(CARD9):c.19G>A (p.Asp7Asn) http://identifiers.org/clinvar/360866 ^@ NM_194456.1(KRIT1):c.*1363T>G http://identifiers.org/clinvar/301856 ^@ NM_001002261.3(ZFYVE27):c.*1150C>T http://identifiers.org/clinvar/301857 ^@ NM_001002261.3(ZFYVE27):c.*1195C>T http://identifiers.org/clinvar/301860 ^@ NM_001002261.3(ZFYVE27):c.*1308A>C http://identifiers.org/clinvar/301866 ^@ NM_001002261.3(ZFYVE27):c.*1472C>T http://identifiers.org/clinvar/360868 ^@ NM_194456.1(KRIT1):c.*885A>T http://identifiers.org/clinvar/360869 ^@ NM_194456.1(KRIT1):c.*578A>G http://identifiers.org/clinvar/365862 ^@ NM_052813.4(CARD9):c.-82C>G http://identifiers.org/clinvar/298310 ^@ NM_000195.4(HPS1):c.*1215C>T http://identifiers.org/clinvar/365864 ^@ NM_052813.4(CARD9):c.-126C>A http://identifiers.org/clinvar/298318 ^@ NM_000195.4(HPS1):c.*916G>A http://identifiers.org/clinvar/360871 ^@ NM_194456.1(KRIT1):c.*436C>T http://identifiers.org/clinvar/360873 ^@ NM_194456.1(KRIT1):c.*371_*372insG http://identifiers.org/clinvar/365868 ^@ NM_019892.5(INPP5E):c.*816A>G http://identifiers.org/clinvar/365870 ^@ NM_019892.5(INPP5E):c.*747T>C http://identifiers.org/clinvar/360876 ^@ NM_194456.1(KRIT1):c.*272G>A http://identifiers.org/clinvar/360877 ^@ NM_194456.1(KRIT1):c.*141C>T http://identifiers.org/clinvar/360881 ^@ NM_194456.1(KRIT1):c.*57G>A http://identifiers.org/clinvar/360859 ^@ NM_005751.4(AKAP9):c.*462T>A http://identifiers.org/clinvar/360860 ^@ NM_005751.4(AKAP9):c.*494G>T http://identifiers.org/clinvar/360861 ^@ NM_194456.1(KRIT1):c.*1750C>T http://identifiers.org/clinvar/298319 ^@ NM_000195.4(HPS1):c.*768A>G http://identifiers.org/clinvar/298320 ^@ NM_000195.4(HPS1):c.*766G>T http://identifiers.org/clinvar/365875 ^@ NM_019892.5(INPP5E):c.*328T>C http://identifiers.org/clinvar/360887 ^@ NM_194456.1(KRIT1):c.1063C>T (p.Leu355Phe) http://identifiers.org/clinvar/360896 ^@ NM_194456.1(KRIT1):c.-356G>A http://identifiers.org/clinvar/365891 ^@ NM_019892.5(INPP5E):c.812+7_812+10dupAGGG http://identifiers.org/clinvar/298322 ^@ NM_000195.4(HPS1):c.*706C>G http://identifiers.org/clinvar/360901 ^@ NM_194456.1(KRIT1):c.-590+12G>T http://identifiers.org/clinvar/298326 ^@ NM_000195.4(HPS1):c.*589G>A http://identifiers.org/clinvar/298331 ^@ NM_000195.4(HPS1):c.*327G>A http://identifiers.org/clinvar/365897 ^@ NM_019892.5(INPP5E):c.-271C>T http://identifiers.org/clinvar/298332 ^@ NM_000195.4(HPS1):c.*324T>C http://identifiers.org/clinvar/360905 ^@ NM_194456.1(KRIT1):c.-680G>A http://identifiers.org/clinvar/298342 ^@ NM_000195.4(HPS1):c.968C>G (p.Pro323Arg) http://identifiers.org/clinvar/365911 ^@ NM_006412.3(AGPAT2):c.*201G>C http://identifiers.org/clinvar/360909 ^@ NM_194456.1(KRIT1):c.-780_-775dupCGGCTC http://identifiers.org/clinvar/298343 ^@ NM_000195.4(HPS1):c.952C>G (p.Leu318Val) http://identifiers.org/clinvar/298352 ^@ NM_000195.4(HPS1):c.255+9A>G http://identifiers.org/clinvar/360867 ^@ NM_194456.1(KRIT1):c.*1335T>C http://identifiers.org/clinvar/298356 ^@ NM_000195.4(HPS1):c.27G>C (p.Glu9Asp) http://identifiers.org/clinvar/360870 ^@ NM_194456.1(KRIT1):c.*451T>C http://identifiers.org/clinvar/360878 ^@ NM_194456.1(KRIT1):c.*137delC http://identifiers.org/clinvar/360879 ^@ NM_194456.1(KRIT1):c.*132T>G http://identifiers.org/clinvar/365913 ^@ NM_006412.3(AGPAT2):c.*157C>T http://identifiers.org/clinvar/298359 ^@ NM_000195.4(HPS1):c.-91T>A http://identifiers.org/clinvar/360884 ^@ NM_194456.1(KRIT1):c.1245T>G (p.Ile415Met) http://identifiers.org/clinvar/298363 ^@ NM_004376.5(COX15):c.*4441G>C http://identifiers.org/clinvar/298369 ^@ NM_004376.5(COX15):c.*4110T>G http://identifiers.org/clinvar/360889 ^@ NM_194456.1(KRIT1):c.302G>T (p.Gly101Val) http://identifiers.org/clinvar/298377 ^@ NM_004376.5(COX15):c.*3268A>C http://identifiers.org/clinvar/298384 ^@ NM_004376.6(COX15):c.*2497G>A http://identifiers.org/clinvar/298386 ^@ NM_004376.6(COX15):c.*2311_*2312dupTT http://identifiers.org/clinvar/365915 ^@ NM_006412.3(AGPAT2):c.*45C>A http://identifiers.org/clinvar/365923 ^@ NM_006412.3(AGPAT2):c.604G>A (p.Val202Met) http://identifiers.org/clinvar/360891 ^@ NM_194456.1(KRIT1):c.-2-7T>C http://identifiers.org/clinvar/298387 ^@ NM_004376.6(COX15):c.*2244T>C http://identifiers.org/clinvar/298390 ^@ NM_004376.6(COX15):c.*1684A>G http://identifiers.org/clinvar/360893 ^@ NM_194456.1(KRIT1):c.-174C>A http://identifiers.org/clinvar/360894 ^@ NM_194456.1(KRIT1):c.-307A>T http://identifiers.org/clinvar/360895 ^@ NM_194456.1(KRIT1):c.-312A>G http://identifiers.org/clinvar/365930 ^@ NM_006412.3(AGPAT2):c.315G>T (p.Met105Ile) http://identifiers.org/clinvar/360912 ^@ NM_000466.2(PEX1):c.3627C>T (p.Ser1209=) http://identifiers.org/clinvar/365935 ^@ NM_006412.3(AGPAT2):c.-5_-1dupGGGCC http://identifiers.org/clinvar/360923 ^@ NM_000466.2(PEX1):c.2408C>T (p.Thr803Ile) http://identifiers.org/clinvar/360927 ^@ NM_000466.2(PEX1):c.1441G>A (p.Val481Ile) http://identifiers.org/clinvar/298391 ^@ NM_004376.6(COX15):c.*1582delT http://identifiers.org/clinvar/298392 ^@ NM_004376.6(COX15):c.*1528A>G http://identifiers.org/clinvar/298395 ^@ NM_004376.6(COX15):c.*1317T>C http://identifiers.org/clinvar/360933 ^@ NM_000466.2(PEX1):c.-19A>G http://identifiers.org/clinvar/360938 ^@ NM_000089.3(COL1A2):c.-365A>G http://identifiers.org/clinvar/360897 ^@ NM_194456.1(KRIT1):c.-394C>T http://identifiers.org/clinvar/365941 ^@ NM_006412.3(AGPAT2):c.-68C>G http://identifiers.org/clinvar/365942 ^@ NM_016219.4(MAN1B1):c.-21C>A http://identifiers.org/clinvar/365948 ^@ NM_016219.4(MAN1B1):c.527A>T (p.Asp176Val) http://identifiers.org/clinvar/360899 ^@ NM_194456.1(KRIT1):c.-544C>G http://identifiers.org/clinvar/298396 ^@ NM_004376.6(COX15):c.*1286G>T http://identifiers.org/clinvar/298397 ^@ NM_004376.6(COX15):c.*1109G>A http://identifiers.org/clinvar/360900 ^@ NM_194456.1(KRIT1):c.-589-5G>T http://identifiers.org/clinvar/360902 ^@ NM_194456.1(KRIT1):c.-590+8C>T http://identifiers.org/clinvar/298405 ^@ NM_004376.6(COX15):c.*520G>A http://identifiers.org/clinvar/298411 ^@ NM_004376.6(COX15):c.*24T>C http://identifiers.org/clinvar/298412 ^@ NM_004376.6(COX15):c.1116C>G (p.Phe372Leu) http://identifiers.org/clinvar/360906 ^@ NM_194456.1(KRIT1):c.-689A>G http://identifiers.org/clinvar/360907 ^@ NM_194456.1(KRIT1):c.-701C>T http://identifiers.org/clinvar/365952 ^@ NM_016219.4(MAN1B1):c.717A>G (p.Thr239=) http://identifiers.org/clinvar/298424 ^@ NM_004376.6(COX15):c.-84G>A http://identifiers.org/clinvar/365954 ^@ NM_016219.4(MAN1B1):c.768C>T (p.Val256=) http://identifiers.org/clinvar/360940 ^@ NM_000089.3(COL1A2):c.-188C>T http://identifiers.org/clinvar/360918 ^@ NM_000466.2(PEX1):c.3161C>T (p.Ala1054Val) http://identifiers.org/clinvar/365963 ^@ NM_016219.4(MAN1B1):c.1546G>A (p.Gly516Ser) http://identifiers.org/clinvar/365964 ^@ NM_016219.4(MAN1B1):c.1566+14C>T http://identifiers.org/clinvar/365965 ^@ NM_016219.4(MAN1B1):c.1621C>T (p.Leu541=) http://identifiers.org/clinvar/365973 ^@ NM_016219.4(MAN1B1):c.1905G>A (p.Ser635=) http://identifiers.org/clinvar/298426 ^@ NM_004376.6(COX15):c.-133T>C http://identifiers.org/clinvar/360921 ^@ NM_000466.2(PEX1):c.2584-9delG http://identifiers.org/clinvar/365977 ^@ NM_016219.4(MAN1B1):c.1998G>A (p.Lys666=) http://identifiers.org/clinvar/360947 ^@ NM_000089.3(COL1A2):c.693+12C>A http://identifiers.org/clinvar/298428 ^@ NM_004376.6(COX15):c.-307C>G http://identifiers.org/clinvar/365982 ^@ NM_016219.4(MAN1B1):c.*259G>A http://identifiers.org/clinvar/365997 ^@ NM_024757.4(EHMT1):c.533C>A (p.Thr178Asn) http://identifiers.org/clinvar/298429 ^@ NM_004376.6(COX15):c.-338C>T http://identifiers.org/clinvar/360926 ^@ NM_000466.2(PEX1):c.1729C>A (p.Arg577Ser) http://identifiers.org/clinvar/360928 ^@ NM_000466.2(PEX1):c.1380A>C (p.Glu460Asp) http://identifiers.org/clinvar/360934 ^@ NM_000466.2(PEX1):c.-43T>G http://identifiers.org/clinvar/366001 ^@ NM_024757.4(EHMT1):c.1148C>T (p.Ser383Leu) http://identifiers.org/clinvar/360936 ^@ NM_000466.2(PEX1):c.-74A>G http://identifiers.org/clinvar/360951 ^@ NM_000089.3(COL1A2):c.1036-12A>G http://identifiers.org/clinvar/366002 ^@ NM_024757.4(EHMT1):c.1149G>A (p.Ser383=) http://identifiers.org/clinvar/366005 ^@ NM_024757.4(EHMT1):c.1249-11T>C http://identifiers.org/clinvar/366006 ^@ NM_024757.4(EHMT1):c.1249-9G>T http://identifiers.org/clinvar/366009 ^@ NM_024757.4(EHMT1):c.1402G>A (p.Ala468Thr) http://identifiers.org/clinvar/360939 ^@ NM_000089.3(COL1A2):c.-287C>T http://identifiers.org/clinvar/366015 ^@ NM_024757.4(EHMT1):c.2175C>T (p.Ile725=) http://identifiers.org/clinvar/360956 ^@ NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) http://identifiers.org/clinvar/360941 ^@ NM_000089.3(COL1A2):c.-87C>T http://identifiers.org/clinvar/360944 ^@ NM_000089.3(COL1A2):c.122G>A (p.Arg41His) http://identifiers.org/clinvar/360958 ^@ NM_000089.3(COL1A2):c.1878G>T (p.Val626=) http://identifiers.org/clinvar/298432 ^@ NM_004376.6(COX15):c.-435C>T http://identifiers.org/clinvar/298436 ^@ NM_000392.4(ABCC2):c.-43A>G http://identifiers.org/clinvar/360962 ^@ NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) http://identifiers.org/clinvar/298440 ^@ NM_000392.4(ABCC2):c.108C>T (p.Pro36=) http://identifiers.org/clinvar/298447 ^@ NM_000392.4(ABCC2):c.1209+15G>A http://identifiers.org/clinvar/366029 ^@ NM_024757.4(EHMT1):c.3377C>T (p.Ala1126Val) http://identifiers.org/clinvar/366033 ^@ NM_024757.4(EHMT1):c.3774C>T (p.Cys1258=) http://identifiers.org/clinvar/366035 ^@ NM_024757.4(EHMT1):c.3834C>A (p.Ala1278=) http://identifiers.org/clinvar/298450 ^@ NM_000392.4(ABCC2):c.1250T>C (p.Val417Ala) http://identifiers.org/clinvar/360968 ^@ NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) http://identifiers.org/clinvar/298451 ^@ NM_000392.4(ABCC2):c.1346T>C (p.Val449Ala) http://identifiers.org/clinvar/360969 ^@ NM_000089.3(COL1A2):c.3614G>A (p.Arg1205Gln) http://identifiers.org/clinvar/360974 ^@ NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) http://identifiers.org/clinvar/366039 ^@ NM_024757.4(EHMT1):c.*226G>A http://identifiers.org/clinvar/298454 ^@ NM_000392.4(ABCC2):c.1860T>A (p.Asp620Glu) http://identifiers.org/clinvar/366040 ^@ NM_024757.4(EHMT1):c.*551T>G http://identifiers.org/clinvar/298455 ^@ NM_000392.4(ABCC2):c.2095-6A>G http://identifiers.org/clinvar/360959 ^@ NM_000089.3(COL1A2):c.1971+5G>A http://identifiers.org/clinvar/360963 ^@ NM_000089.3(COL1A2):c.2563G>A (p.Ala855Thr) http://identifiers.org/clinvar/366045 ^@ NM_024757.4(EHMT1):c.*1025dupT http://identifiers.org/clinvar/360965 ^@ NM_000089.3(COL1A2):c.2569C>T (p.Pro857Ser) http://identifiers.org/clinvar/298457 ^@ NM_000392.4(ABCC2):c.2546T>G (p.Leu849Arg) http://identifiers.org/clinvar/360977 ^@ NM_000089.3(COL1A2):c.*195C>T http://identifiers.org/clinvar/298459 ^@ NM_000392.4(ABCC2):c.2747+5G>A http://identifiers.org/clinvar/298461 ^@ NM_000392.4(ABCC2):c.3068G>T (p.Arg1023Ile) http://identifiers.org/clinvar/298463 ^@ NM_000392.4(ABCC2):c.3256G>A (p.Gly1086Ser) http://identifiers.org/clinvar/366048 ^@ NM_144966.5(FREM1):c.*2704A>C http://identifiers.org/clinvar/366049 ^@ NM_144966.5(FREM1):c.*2670T>A http://identifiers.org/clinvar/366051 ^@ NM_144966.5(FREM1):c.*2553_*2556delGTTT http://identifiers.org/clinvar/298472 ^@ NM_000392.4(ABCC2):c.4062C>T (p.Ala1354=) http://identifiers.org/clinvar/360970 ^@ NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) http://identifiers.org/clinvar/298480 ^@ NM_000392.4(ABCC2):c.4508+12G>A http://identifiers.org/clinvar/298481 ^@ NM_000392.4(ABCC2):c.4544G>A (p.Cys1515Tyr) http://identifiers.org/clinvar/360973 ^@ NM_000089.3(COL1A2):c.3809A>G (p.Tyr1270Cys) http://identifiers.org/clinvar/301870 ^@ NM_030962.3(SBF2):c.777G>A (p.Pro259=) http://identifiers.org/clinvar/360979 ^@ NM_000089.3(COL1A2):c.*283T>C http://identifiers.org/clinvar/360981 ^@ NM_000089.3(COL1A2):c.*605A>G http://identifiers.org/clinvar/301872 ^@ NM_030962.3(SBF2):c.645T>C (p.Phe215=) http://identifiers.org/clinvar/301875 ^@ NM_004621.5(TRPC6):c.*1380G>A http://identifiers.org/clinvar/366054 ^@ NM_144966.5(FREM1):c.*2405T>G http://identifiers.org/clinvar/366056 ^@ NM_144966.5(FREM1):c.*2341A>G http://identifiers.org/clinvar/360976 ^@ NM_000089.3(COL1A2):c.*194C>T http://identifiers.org/clinvar/301884 ^@ NM_004621.5(TRPC6):c.*710_*711insTTTA http://identifiers.org/clinvar/301886 ^@ NM_004621.5(TRPC6):c.*575C>A http://identifiers.org/clinvar/360982 ^@ NM_000089.3(COL1A2):c.*618T>C http://identifiers.org/clinvar/366057 ^@ NM_144966.5(FREM1):c.*2330C>G http://identifiers.org/clinvar/360985 ^@ NM_003919.2(SGCE):c.*172T>C http://identifiers.org/clinvar/360987 ^@ NM_003919.2(SGCE):c.1065C>T (p.Asp355=) http://identifiers.org/clinvar/360994 ^@ NM_003919.2(SGCE):c.510T>C (p.Asn170=) http://identifiers.org/clinvar/301891 ^@ NM_004621.5(TRPC6):c.*336C>T http://identifiers.org/clinvar/301894 ^@ NM_004621.5(TRPC6):c.*40T>G http://identifiers.org/clinvar/360995 ^@ NM_003919.2(SGCE):c.450_452delAAT (p.Ile150del) http://identifiers.org/clinvar/301910 ^@ NM_004621.5(TRPC6):c.739C>T (p.Arg247Trp) http://identifiers.org/clinvar/361005 ^@ NM_014251.2(SLC25A13):c.*330G>T http://identifiers.org/clinvar/301920 ^@ NM_004621.5(TRPC6):c.-254C>G http://identifiers.org/clinvar/301925 ^@ NM_004621.5(TRPC6):c.-360T>C http://identifiers.org/clinvar/360989 ^@ NM_003919.2(SGCE):c.975G>A (p.Ser325=) http://identifiers.org/clinvar/301928 ^@ NM_030962.3(SBF2):c.129G>A (p.Gln43=) http://identifiers.org/clinvar/301934 ^@ NM_004771.3(MMP20):c.1422G>A (p.Val474=) http://identifiers.org/clinvar/360990 ^@ NM_003919.2(SGCE):c.738G>A (p.Leu246=) http://identifiers.org/clinvar/361007 ^@ NM_014251.2(SLC25A13):c.*191T>C http://identifiers.org/clinvar/366058 ^@ NM_144966.5(FREM1):c.*2324T>A http://identifiers.org/clinvar/366061 ^@ NM_144966.5(FREM1):c.*2254A>G http://identifiers.org/clinvar/366062 ^@ NM_144966.5(FREM1):c.*2229C>T http://identifiers.org/clinvar/301936 ^@ NM_004771.3(MMP20):c.1219C>T (p.Leu407Phe) http://identifiers.org/clinvar/301940 ^@ NM_004771.3(MMP20):c.954-15_954-14delTG http://identifiers.org/clinvar/360996 ^@ NM_003919.2(SGCE):c.-37_-33dupGGGAG http://identifiers.org/clinvar/360997 ^@ NM_003919.2(SGCE):c.-84T>C http://identifiers.org/clinvar/301941 ^@ NM_004771.3(MMP20):c.954-16_954-15delTT http://identifiers.org/clinvar/301944 ^@ NM_004771.3(MMP20):c.810C>T (p.Tyr270=) http://identifiers.org/clinvar/301947 ^@ NM_004771.3(MMP20):c.723A>G (p.Ser241=) http://identifiers.org/clinvar/361012 ^@ NM_014251.2(SLC25A13):c.1797T>A (p.Thr599=) http://identifiers.org/clinvar/361015 ^@ NM_014251.2(SLC25A13):c.1313C>T (p.Ala438Val) http://identifiers.org/clinvar/366066 ^@ NM_144966.5(FREM1):c.*1865T>C http://identifiers.org/clinvar/301951 ^@ NM_004771.3(MMP20):c.415G>A (p.Asp139Asn) http://identifiers.org/clinvar/366068 ^@ NM_144966.5(FREM1):c.*1788C>G http://identifiers.org/clinvar/361016 ^@ NM_014251.2(SLC25A13):c.1312-12delT http://identifiers.org/clinvar/361018 ^@ NM_014251.2(SLC25A13):c.1275G>A (p.Ser425=) http://identifiers.org/clinvar/361024 ^@ NM_014251.2(SLC25A13):c.711T>C (p.Tyr237=) http://identifiers.org/clinvar/301956 ^@ NM_004771.3(MMP20):c.254G>A (p.Gly85Glu) http://identifiers.org/clinvar/361028 ^@ NM_014251.2(SLC25A13):c.-10G>A http://identifiers.org/clinvar/361128 ^@ NM_015713.4(RRM2B):c.*3463C>T http://identifiers.org/clinvar/366073 ^@ NM_144966.5(FREM1):c.*1465G>A http://identifiers.org/clinvar/301957 ^@ NM_004771.3(MMP20):c.92C>T (p.Pro31Leu) http://identifiers.org/clinvar/366074 ^@ NM_144966.5(FREM1):c.*1394A>T http://identifiers.org/clinvar/361131 ^@ NM_015713.4(RRM2B):c.*3266G>T http://identifiers.org/clinvar/302101 ^@ NM_030962.3(SBF2):c.-37G>T http://identifiers.org/clinvar/301962 ^@ NM_002427.3(MMP13):c.*885A>G http://identifiers.org/clinvar/361000 ^@ NM_014251.2(SLC25A13):c.*792C>T http://identifiers.org/clinvar/361004 ^@ NM_014251.2(SLC25A13):c.*507T>C http://identifiers.org/clinvar/301963 ^@ NM_002427.3(MMP13):c.*849dupT http://identifiers.org/clinvar/361008 ^@ NM_014251.2(SLC25A13):c.*175A>G http://identifiers.org/clinvar/301967 ^@ NM_002427.3(MMP13):c.*436G>C http://identifiers.org/clinvar/361135 ^@ NM_015713.4(RRM2B):c.*2978A>G http://identifiers.org/clinvar/301971 ^@ NM_002427.3(MMP13):c.*275T>C http://identifiers.org/clinvar/361137 ^@ NM_015713.4(RRM2B):c.*2879A>G http://identifiers.org/clinvar/301976 ^@ NM_002427.3(MMP13):c.1169A>G (p.Asp390Gly) http://identifiers.org/clinvar/361144 ^@ NM_015713.4(RRM2B):c.*2513T>C http://identifiers.org/clinvar/361151 ^@ NM_015713.4(RRM2B):c.*2097T>A http://identifiers.org/clinvar/301991 ^@ NM_002427.3(MMP13):c.138C>T (p.Tyr46=) http://identifiers.org/clinvar/361152 ^@ NM_015713.4(RRM2B):c.*2035A>G http://identifiers.org/clinvar/361159 ^@ NM_015713.4(RRM2B):c.*1488G>C http://identifiers.org/clinvar/301996 ^@ NM_001080463.1(DYNC2H1):c.195+7T>C http://identifiers.org/clinvar/361165 ^@ NM_015713.4(RRM2B):c.*866T>G http://identifiers.org/clinvar/361171 ^@ NM_015713.4(RRM2B):c.*328G>A http://identifiers.org/clinvar/361011 ^@ NM_014251.2(SLC25A13):c.1884C>T (p.Asn628=) http://identifiers.org/clinvar/301998 ^@ NM_001080463.1(DYNC2H1):c.266A>G (p.Glu89Gly) http://identifiers.org/clinvar/301999 ^@ NM_001080463.1(DYNC2H1):c.291T>A (p.Val97=) http://identifiers.org/clinvar/302000 ^@ NM_001080463.1(DYNC2H1):c.337C>T (p.Arg113Trp) http://identifiers.org/clinvar/361176 ^@ NM_015713.4(RRM2B):c.913G>T (p.Ala305Ser) http://identifiers.org/clinvar/361178 ^@ NM_015713.4(RRM2B):c.756G>A (p.Arg252=) http://identifiers.org/clinvar/366078 ^@ NM_144966.5(FREM1):c.*1258G>A http://identifiers.org/clinvar/302015 ^@ NM_001080463.1(DYNC2H1):c.2106+5A>G http://identifiers.org/clinvar/302016 ^@ NM_001080463.1(DYNC2H1):c.2244C>T (p.His748=) http://identifiers.org/clinvar/302018 ^@ NM_001080463.1(DYNC2H1):c.2454G>A (p.Glu818=) http://identifiers.org/clinvar/302023 ^@ NM_001080463.1(DYNC2H1):c.2922T>C (p.Ser974=) http://identifiers.org/clinvar/366088 ^@ NM_144966.5(FREM1):c.*530T>C http://identifiers.org/clinvar/366098 ^@ NM_144966.5(FREM1):c.*10A>T http://identifiers.org/clinvar/366100 ^@ NM_144966.5(FREM1):c.6465A>G (p.Gln2155=) http://identifiers.org/clinvar/366101 ^@ NM_144966.5(FREM1):c.6454G>A (p.Val2152Ile) http://identifiers.org/clinvar/366107 ^@ NM_144966.5(FREM1):c.5956C>T (p.Leu1986=) http://identifiers.org/clinvar/361179 ^@ NM_015713.4(RRM2B):c.540A>G (p.Lys180=) http://identifiers.org/clinvar/361013 ^@ NM_014251.2(SLC25A13):c.1671C>T (p.Thr557=) http://identifiers.org/clinvar/302029 ^@ NM_001080463.1(DYNC2H1):c.3662G>C (p.Arg1221Thr) http://identifiers.org/clinvar/361020 ^@ NM_014251.2(SLC25A13):c.1230A>C (p.Thr410=) http://identifiers.org/clinvar/302030 ^@ NM_001080463.1(DYNC2H1):c.3735C>T (p.Ala1245=) http://identifiers.org/clinvar/302031 ^@ NM_001080463.1(DYNC2H1):c.3862A>G (p.Thr1288Ala) http://identifiers.org/clinvar/302036 ^@ NM_001080463.1(DYNC2H1):c.4561A>G (p.Thr1521Ala) http://identifiers.org/clinvar/302040 ^@ NM_001080463.1(DYNC2H1):c.4959T>C (p.Tyr1653=) http://identifiers.org/clinvar/302041 ^@ NM_001080463.1(DYNC2H1):c.5177G>A (p.Arg1726Gln) http://identifiers.org/clinvar/361180 ^@ NM_015713.4(RRM2B):c.503A>G (p.Lys168Arg) http://identifiers.org/clinvar/361182 ^@ NM_015713.4(RRM2B):c.-103G>A http://identifiers.org/clinvar/361184 ^@ NM_015713.4(RRM2B):c.-157G>A http://identifiers.org/clinvar/366115 ^@ NM_144966.5(FREM1):c.4875A>C (p.Lys1625Asn) http://identifiers.org/clinvar/366122 ^@ NM_144966.5(FREM1):c.4421C>T (p.Thr1474Ile) http://identifiers.org/clinvar/302045 ^@ NM_001080463.1(DYNC2H1):c.5472T>C (p.Leu1824=) http://identifiers.org/clinvar/302049 ^@ NM_001080463.1(DYNC2H1):c.5642G>A (p.Arg1881Lys) http://identifiers.org/clinvar/302051 ^@ NM_001080463.1(DYNC2H1):c.5793G>C (p.Leu1931Phe) http://identifiers.org/clinvar/361441 ^@ NM_001385.2(DPYS):c.*408A>G http://identifiers.org/clinvar/361455 ^@ NM_001385.2(DPYS):c.17G>A (p.Arg6Gln) http://identifiers.org/clinvar/361185 ^@ NM_178857.5(RP1L1):c.*513G>C http://identifiers.org/clinvar/361188 ^@ NM_178857.5(RP1L1):c.*444T>A http://identifiers.org/clinvar/361023 ^@ NM_014251.2(SLC25A13):c.848+10delC http://identifiers.org/clinvar/361025 ^@ NM_014251.2(SLC25A13):c.675G>A (p.Ser225=) http://identifiers.org/clinvar/361197 ^@ NM_178857.5(RP1L1):c.*200G>A http://identifiers.org/clinvar/302054 ^@ NM_001080463.1(DYNC2H1):c.6420T>C (p.Asn2140=) http://identifiers.org/clinvar/361198 ^@ NM_178857.5(RP1L1):c.*199C>T http://identifiers.org/clinvar/302056 ^@ NM_001080463.1(DYNC2H1):c.6711A>G (p.Arg2237=) http://identifiers.org/clinvar/302062 ^@ NM_001080463.1(DYNC2H1):c.7462G>A (p.Asp2488Asn) http://identifiers.org/clinvar/302067 ^@ NM_001080463.1(DYNC2H1):c.8293T>G (p.Phe2765Val) http://identifiers.org/clinvar/361199 ^@ NM_178857.5(RP1L1):c.*99C>A http://identifiers.org/clinvar/361200 ^@ NM_178857.5(RP1L1):c.*98C>T http://identifiers.org/clinvar/366126 ^@ NM_144966.5(FREM1):c.3904A>G (p.Ile1302Val) http://identifiers.org/clinvar/366128 ^@ NM_144966.5(FREM1):c.3840-3C>T http://identifiers.org/clinvar/361206 ^@ NM_178857.5(RP1L1):c.6993G>A (p.Thr2331=) http://identifiers.org/clinvar/361027 ^@ NM_014251.2(SLC25A13):c.6G>T (p.Ala2=) http://identifiers.org/clinvar/302083 ^@ NM_001080463.1(DYNC2H1):c.9886G>C (p.Glu3296Gln) http://identifiers.org/clinvar/302102 ^@ NM_001080463.1(DYNC2H1):c.10996C>G (p.Gln3666Glu) http://identifiers.org/clinvar/366142 ^@ NM_144966.5(FREM1):c.2641-10C>T http://identifiers.org/clinvar/366143 ^@ NM_144966.5(FREM1):c.2640+4G>A http://identifiers.org/clinvar/302110 ^@ NM_001080463.1(DYNC2H1):c.11331T>G (p.Cys3777Trp) http://identifiers.org/clinvar/361209 ^@ NM_178857.5(RP1L1):c.6853G>A (p.Gly2285Arg) http://identifiers.org/clinvar/361212 ^@ NM_178857.5(RP1L1):c.6723A>G (p.Ser2241=) http://identifiers.org/clinvar/302116 ^@ NM_001080463.1(DYNC2H1):c.11963G>A (p.Arg3988His) http://identifiers.org/clinvar/302122 ^@ NM_001080463.1(DYNC2H1):c.12477+7C>T http://identifiers.org/clinvar/366152 ^@ NM_144966.5(FREM1):c.2104A>G (p.Met702Val) http://identifiers.org/clinvar/302123 ^@ NM_001080463.1(DYNC2H1):c.12478-13T>C http://identifiers.org/clinvar/361217 ^@ NM_178857.5(RP1L1):c.6600G>A (p.Glu2200=) http://identifiers.org/clinvar/302125 ^@ NM_001080463.1(DYNC2H1):c.12516T>C (p.Ser4172=) http://identifiers.org/clinvar/361125 ^@ NM_015713.4(RRM2B):c.*3555T>C http://identifiers.org/clinvar/361134 ^@ NM_015713.4(RRM2B):c.*3003_*3004delAT http://identifiers.org/clinvar/361139 ^@ NM_015713.4(RRM2B):c.*2809G>A http://identifiers.org/clinvar/361226 ^@ NM_178857.5(RP1L1):c.6329C>T (p.Ala2110Val) http://identifiers.org/clinvar/302126 ^@ NM_001080463.1(DYNC2H1):c.12724A>T (p.Asn4242Tyr) http://identifiers.org/clinvar/366157 ^@ NM_144966.5(FREM1):c.1640C>G (p.Ala547Gly) http://identifiers.org/clinvar/366161 ^@ NM_144966.5(FREM1):c.1165G>T (p.Val389Leu) http://identifiers.org/clinvar/366179 ^@ NM_144966.5(FREM1):c.8C>T (p.Ser3Phe) http://identifiers.org/clinvar/361228 ^@ NM_178857.5(RP1L1):c.6264G>T (p.Gln2088His) http://identifiers.org/clinvar/302128 ^@ NM_001080463.1(DYNC2H1):c.12787-7dupT http://identifiers.org/clinvar/302132 ^@ NM_001080463.1(DYNC2H1):c.*211A>G http://identifiers.org/clinvar/366197 ^@ NM_003070.4(SMARCA2):c.666A>G (p.Gln222=) http://identifiers.org/clinvar/361235 ^@ NM_178857.5(RP1L1):c.5860A>G (p.Thr1954Ala) http://identifiers.org/clinvar/302137 ^@ NM_001025389.1(AMPD3):c.-312A>G http://identifiers.org/clinvar/302140 ^@ NM_001025389.1(AMPD3):c.-239G>C http://identifiers.org/clinvar/361140 ^@ NM_015713.4(RRM2B):c.*2722A>G http://identifiers.org/clinvar/361149 ^@ NM_015713.4(RRM2B):c.*2151_*2152insA http://identifiers.org/clinvar/361150 ^@ NM_015713.4(RRM2B):c.*2136G>A http://identifiers.org/clinvar/366200 ^@ NM_003070.4(SMARCA2):c.695A>C (p.Gln232Pro) http://identifiers.org/clinvar/361239 ^@ NM_178857.5(RP1L1):c.5793C>T (p.Asp1931=) http://identifiers.org/clinvar/366201 ^@ NM_003070.4(SMARCA2):c.701A>C (p.Gln234Pro) http://identifiers.org/clinvar/361240 ^@ NM_178857.5(RP1L1):c.5761A>C (p.Ser1921Arg) http://identifiers.org/clinvar/361251 ^@ NM_178857.5(RP1L1):c.5483A>C (p.Gln1828Pro) http://identifiers.org/clinvar/361253 ^@ NM_178857.5(RP1L1):c.5421C>G (p.Gly1807=) http://identifiers.org/clinvar/366202 ^@ NM_003070.4(SMARCA2):c.708A>G (p.Gln236=) http://identifiers.org/clinvar/361160 ^@ NM_015713.4(RRM2B):c.*1351T>C http://identifiers.org/clinvar/302144 ^@ NM_001025389.1(AMPD3):c.-82T>G http://identifiers.org/clinvar/361166 ^@ NM_015713.4(RRM2B):c.*855C>G http://identifiers.org/clinvar/302146 ^@ NM_001025389.1(AMPD3):c.-5-6T>G http://identifiers.org/clinvar/366206 ^@ NM_003070.4(SMARCA2):c.1737G>A (p.Pro579=) http://identifiers.org/clinvar/302152 ^@ NM_001025389.1(AMPD3):c.408C>T (p.Ser136=) http://identifiers.org/clinvar/366217 ^@ NM_003070.4(SMARCA2):c.2992-8G>A http://identifiers.org/clinvar/302154 ^@ NM_001025389.1(AMPD3):c.426+8G>A http://identifiers.org/clinvar/366222 ^@ NM_003070.4(SMARCA2):c.3939C>T (p.Asp1313=) http://identifiers.org/clinvar/361172 ^@ NM_015713.4(RRM2B):c.*247G>A http://identifiers.org/clinvar/302156 ^@ NM_001025389.1(AMPD3):c.485G>A (p.Arg162Gln) http://identifiers.org/clinvar/302157 ^@ NM_001025389.1(AMPD3):c.500G>T (p.Arg167Leu) http://identifiers.org/clinvar/361177 ^@ NM_015713.4(RRM2B):c.790-9T>C http://identifiers.org/clinvar/361254 ^@ NM_178857.5(RP1L1):c.5348C>T (p.Ala1783Val) http://identifiers.org/clinvar/366224 ^@ NM_203447.3(DOCK8):c.-100T>A http://identifiers.org/clinvar/366229 ^@ NM_203447.3(DOCK8):c.53+11C>T http://identifiers.org/clinvar/366235 ^@ NM_002451.3(MTAP):c.39A>C (p.Gly13=) http://identifiers.org/clinvar/361258 ^@ NM_178857.5(RP1L1):c.5138C>A (p.Thr1713Asn) http://identifiers.org/clinvar/366238 ^@ NM_002451.3(MTAP):c.166G>A (p.Val56Ile) http://identifiers.org/clinvar/302159 ^@ NM_001025389.1(AMPD3):c.600T>G (p.Pro200=) http://identifiers.org/clinvar/302165 ^@ NM_001025389.1(AMPD3):c.1087C>T (p.His363Tyr) http://identifiers.org/clinvar/366239 ^@ NM_002451.3(MTAP):c.179+12T>A http://identifiers.org/clinvar/366240 ^@ NM_002451.3(MTAP):c.187A>G (p.Arg63Gly) http://identifiers.org/clinvar/366245 ^@ NM_002451.3(MTAP):c.566G>T (p.Trp189Leu) http://identifiers.org/clinvar/361446 ^@ NM_001385.2(DPYS):c.*166_*169delGTCT http://identifiers.org/clinvar/366246 ^@ NM_002451.3(MTAP):c.603G>A (p.Glu201=) http://identifiers.org/clinvar/302169 ^@ NM_001025389.1(AMPD3):c.1267-3C>T http://identifiers.org/clinvar/366247 ^@ NM_002451.3(MTAP):c.653C>T (p.Ala218Val) http://identifiers.org/clinvar/366252 ^@ NM_002451.3(MTAP):c.*17A>G http://identifiers.org/clinvar/366255 ^@ NM_002451.3(MTAP):c.*258delA http://identifiers.org/clinvar/302170 ^@ NM_001025389.1(AMPD3):c.1388A>T (p.Tyr463Phe) http://identifiers.org/clinvar/361259 ^@ NM_178857.5(RP1L1):c.5126C>T (p.Ala1709Val) http://identifiers.org/clinvar/366258 ^@ NM_002451.3(MTAP):c.*328T>C http://identifiers.org/clinvar/302189 ^@ NM_001025389.1(AMPD3):c.*1536T>C http://identifiers.org/clinvar/302190 ^@ NM_001025389.1(AMPD3):c.*1585G>A http://identifiers.org/clinvar/366259 ^@ NM_002451.3(MTAP):c.*378T>C http://identifiers.org/clinvar/302191 ^@ NM_001025389.1(AMPD3):c.*1676_*1679delTAAA http://identifiers.org/clinvar/302193 ^@ NM_000019.3(ACAT1):c.-70T>A http://identifiers.org/clinvar/361262 ^@ NM_178857.5(RP1L1):c.4865G>A (p.Arg1622Gln) http://identifiers.org/clinvar/361268 ^@ NM_178857.5(RP1L1):c.4732_4734dupAAG (p.Lys1578_Leu1579insLys) http://identifiers.org/clinvar/366261 ^@ NM_002451.3(MTAP):c.*536G>A http://identifiers.org/clinvar/302199 ^@ NM_000019.3(ACAT1):c.291A>T (p.Gly97=) http://identifiers.org/clinvar/361452 ^@ NM_001385.2(DPYS):c.672A>G (p.Ala224=) http://identifiers.org/clinvar/302212 ^@ NM_000019.3(ACAT1):c.*107dupT http://identifiers.org/clinvar/302222 ^@ NM_000019.3(ACAT1):c.*393A>G http://identifiers.org/clinvar/302224 ^@ NM_000019.3(ACAT1):c.*467_*470dupATCA http://identifiers.org/clinvar/366262 ^@ NM_002451.3(MTAP):c.*606A>G http://identifiers.org/clinvar/366263 ^@ NM_002451.3(MTAP):c.*657T>C http://identifiers.org/clinvar/366267 ^@ NM_002451.3(MTAP):c.*804T>C http://identifiers.org/clinvar/361454 ^@ NM_001385.2(DPYS):c.131G>T (p.Gly44Val) http://identifiers.org/clinvar/361269 ^@ NM_178857.5(RP1L1):c.4671G>A (p.Ala1557=) http://identifiers.org/clinvar/302228 ^@ NM_000019.3(ACAT1):c.*591A>T http://identifiers.org/clinvar/361272 ^@ NM_178857.5(RP1L1):c.4610C>T (p.Ala1537Val) http://identifiers.org/clinvar/302230 ^@ NM_000019.3(ACAT1):c.*675A>C http://identifiers.org/clinvar/366271 ^@ NM_002451.3(MTAP):c.*1065A>G http://identifiers.org/clinvar/366272 ^@ NM_002451.3(MTAP):c.*1105delG http://identifiers.org/clinvar/361186 ^@ NM_178857.5(RP1L1):c.*495G>A http://identifiers.org/clinvar/302246 ^@ NM_000051.3(ATM):c.3212A>G (p.Asn1071Ser) http://identifiers.org/clinvar/361187 ^@ NM_178857.5(RP1L1):c.*461T>G http://identifiers.org/clinvar/366274 ^@ NM_002451.3(MTAP):c.*1181A>G http://identifiers.org/clinvar/361276 ^@ NM_178857.5(RP1L1):c.4484C>G (p.Pro1495Arg) http://identifiers.org/clinvar/302247 ^@ NM_000051.3(ATM):c.3284+8dupG http://identifiers.org/clinvar/361191 ^@ NM_178857.5(RP1L1):c.*330T>G http://identifiers.org/clinvar/302253 ^@ NM_000051.3(ATM):c.6095+5A>G http://identifiers.org/clinvar/361193 ^@ NM_178857.5(RP1L1):c.*266C>T http://identifiers.org/clinvar/366275 ^@ NM_002451.3(MTAP):c.*1197C>G http://identifiers.org/clinvar/302254 ^@ NM_000051.3(ATM):c.8481T>G (p.Phe2827Leu) http://identifiers.org/clinvar/302256 ^@ NM_000051.3(ATM):c.*44A>G http://identifiers.org/clinvar/361281 ^@ NM_178857.5(RP1L1):c.4440G>A (p.Pro1480=) http://identifiers.org/clinvar/302261 ^@ NM_000051.3(ATM):c.*540delA http://identifiers.org/clinvar/302263 ^@ NM_000051.3(ATM):c.*541_*542delCA http://identifiers.org/clinvar/361283 ^@ NM_178857.5(RP1L1):c.4323G>A (p.Pro1441=) http://identifiers.org/clinvar/302264 ^@ NM_000051.3(ATM):c.*541delC http://identifiers.org/clinvar/302266 ^@ NM_000051.3(ATM):c.*551T>C http://identifiers.org/clinvar/366279 ^@ NM_002451.3(MTAP):c.*1482A>G http://identifiers.org/clinvar/302271 ^@ NM_000051.3(ATM):c.*1571C>T http://identifiers.org/clinvar/302282 ^@ NM_000051.3(ATM):c.*2541_*2543delACA http://identifiers.org/clinvar/361201 ^@ NM_178857.5(RP1L1):c.*38C>G http://identifiers.org/clinvar/361288 ^@ NM_178857.5(RP1L1):c.4032A>G (p.Thr1344=) http://identifiers.org/clinvar/302285 ^@ NM_000051.3(ATM):c.*2714dupT http://identifiers.org/clinvar/302288 ^@ NM_000051.3(ATM):c.*2866T>C http://identifiers.org/clinvar/366288 ^@ NM_002451.3(MTAP):c.*2085G>A http://identifiers.org/clinvar/366289 ^@ NM_002451.3(MTAP):c.*2171G>A http://identifiers.org/clinvar/361289 ^@ NM_178857.5(RP1L1):c.4027_4029delGAA (p.Glu1343del) http://identifiers.org/clinvar/302293 ^@ NM_000051.3(ATM):c.*3091G>A http://identifiers.org/clinvar/302295 ^@ NM_000051.3(ATM):c.*3136A>G http://identifiers.org/clinvar/361297 ^@ NM_178857.5(RP1L1):c.3971A>G (p.Glu1324Gly) http://identifiers.org/clinvar/361300 ^@ NM_178857.5(RP1L1):c.3956C>G (p.Ala1319Gly) http://identifiers.org/clinvar/361203 ^@ NM_178857.5(RP1L1):c.7062G>C (p.Glu2354Asp) http://identifiers.org/clinvar/302298 ^@ NM_000051.3(ATM):c.*3354T>G http://identifiers.org/clinvar/361211 ^@ NM_178857.5(RP1L1):c.6812C>G (p.Pro2271Arg) http://identifiers.org/clinvar/361214 ^@ NM_178857.5(RP1L1):c.6674C>T (p.Pro2225Leu) http://identifiers.org/clinvar/366300 ^@ NM_002451.3(MTAP):c.*2651G>A http://identifiers.org/clinvar/302300 ^@ NM_002906.3(RDX):c.*2423C>T http://identifiers.org/clinvar/302303 ^@ NM_002906.3(RDX):c.*1961G>A http://identifiers.org/clinvar/366303 ^@ NM_002451.3(MTAP):c.*2912G>C http://identifiers.org/clinvar/366305 ^@ NM_002451.3(MTAP):c.*3052C>T http://identifiers.org/clinvar/366309 ^@ NM_002451.3(MTAP):c.*3206C>T http://identifiers.org/clinvar/366316 ^@ NM_002451.3(MTAP):c.*3862C>T http://identifiers.org/clinvar/366319 ^@ NM_002451.3(MTAP):c.*3946A>C http://identifiers.org/clinvar/361218 ^@ NM_178857.5(RP1L1):c.6597A>G (p.Pro2199=) http://identifiers.org/clinvar/366323 ^@ NM_003070.4(SMARCA2):c.4701G>A (p.Val1567=) http://identifiers.org/clinvar/361222 ^@ NM_178857.5(RP1L1):c.6511G>A (p.Glu2171Lys) http://identifiers.org/clinvar/366326 ^@ NM_003070.4(SMARCA2):c.4738-9T>C http://identifiers.org/clinvar/361225 ^@ NM_178857.5(RP1L1):c.6344G>A (p.Gly2115Asp) http://identifiers.org/clinvar/361229 ^@ NM_178857.5(RP1L1):c.6209A>T (p.Glu2070Val) http://identifiers.org/clinvar/361231 ^@ NM_178857.5(RP1L1):c.6136G>A (p.Gly2046Arg) http://identifiers.org/clinvar/302309 ^@ NM_002906.3(RDX):c.*1291delC http://identifiers.org/clinvar/361233 ^@ NM_178857.5(RP1L1):c.5997T>C (p.Asp1999=) http://identifiers.org/clinvar/302320 ^@ NM_002906.3(RDX):c.*1289_*1290insGTGTGC http://identifiers.org/clinvar/302314 ^@ NM_002906.3(RDX):c.*1285_*1290delTGTGTA http://identifiers.org/clinvar/302321 ^@ NM_002906.3(RDX):c.*1288_*1289delGT http://identifiers.org/clinvar/302316 ^@ NM_002906.3(RDX):c.*1286_*1289dupGTGT http://identifiers.org/clinvar/361236 ^@ NM_178857.5(RP1L1):c.5837C>A (p.Ala1946Glu) http://identifiers.org/clinvar/302322 ^@ NM_002906.3(RDX):c.*1284_*1289delGTGTGT http://identifiers.org/clinvar/361248 ^@ NM_178857.5(RP1L1):c.5598G>T (p.Glu1866Asp) http://identifiers.org/clinvar/302319 ^@ NM_002906.3(RDX):c.*1282_*1289dupGTGTGTGT http://identifiers.org/clinvar/302323 ^@ NM_002906.3(RDX):c.*1287_*1288insTTGT http://identifiers.org/clinvar/361304 ^@ NM_178857.5(RP1L1):c.3691C>T (p.Pro1231Ser) http://identifiers.org/clinvar/361306 ^@ NM_178857.5(RP1L1):c.3660C>T (p.Asp1220=) http://identifiers.org/clinvar/366332 ^@ NM_003070.4(SMARCA2):c.*138C>T http://identifiers.org/clinvar/361255 ^@ NM_178857.5(RP1L1):c.5284G>A (p.Glu1762Lys) http://identifiers.org/clinvar/302343 ^@ NM_002906.3(RDX):c.1504A>G (p.Asn502Asp) http://identifiers.org/clinvar/302347 ^@ NM_002906.3(RDX):c.1162C>A (p.Arg388=) http://identifiers.org/clinvar/366338 ^@ NM_003070.4(SMARCA2):c.*537T>C http://identifiers.org/clinvar/302348 ^@ NM_002906.3(RDX):c.1049G>A (p.Arg350His) http://identifiers.org/clinvar/366344 ^@ NM_003383.4(VLDLR):c.-392C>T http://identifiers.org/clinvar/302351 ^@ NM_002906.3(RDX):c.507A>G (p.Glu169=) http://identifiers.org/clinvar/366347 ^@ NM_003383.4(VLDLR):c.-171G>C http://identifiers.org/clinvar/361256 ^@ NM_178857.5(RP1L1):c.5224G>A (p.Glu1742Lys) http://identifiers.org/clinvar/361260 ^@ NM_178857.5(RP1L1):c.4953G>A (p.Ala1651=) http://identifiers.org/clinvar/302352 ^@ NM_002906.3(RDX):c.468-12dupT http://identifiers.org/clinvar/361265 ^@ NM_178857.5(RP1L1):c.4797G>T (p.Leu1599=) http://identifiers.org/clinvar/361267 ^@ NM_178857.5(RP1L1):c.4746G>A (p.Arg1582=) http://identifiers.org/clinvar/361273 ^@ NM_178857.5(RP1L1):c.4594G>A (p.Ala1532Thr) http://identifiers.org/clinvar/302353 ^@ NM_002906.3(RDX):c.-64-6dupT http://identifiers.org/clinvar/361274 ^@ NM_178857.5(RP1L1):c.4542C>T (p.Cys1514=) http://identifiers.org/clinvar/361278 ^@ NM_178857.5(RP1L1):c.4478C>T (p.Ala1493Val) http://identifiers.org/clinvar/361307 ^@ NM_178857.5(RP1L1):c.3582G>T (p.Thr1194=) http://identifiers.org/clinvar/361309 ^@ NM_178857.5(RP1L1):c.3436C>T (p.Arg1146Trp) http://identifiers.org/clinvar/366359 ^@ NM_003383.4(VLDLR):c.71C>A (p.Ala24Asp) http://identifiers.org/clinvar/302371 ^@ NM_024740.2(ALG9):c.*3423T>C http://identifiers.org/clinvar/302377 ^@ NM_024740.2(ALG9):c.*2743T>C http://identifiers.org/clinvar/366363 ^@ NM_003383.4(VLDLR):c.582C>T (p.Gly194=) http://identifiers.org/clinvar/366366 ^@ NM_003383.4(VLDLR):c.863G>C (p.Gly288Ala) http://identifiers.org/clinvar/361311 ^@ NM_178857.5(RP1L1):c.3378G>A (p.Gln1126=) http://identifiers.org/clinvar/302384 ^@ NM_024740.2(ALG9):c.*2473_*2474insT http://identifiers.org/clinvar/302393 ^@ NM_024740.2(ALG9):c.*2233A>G http://identifiers.org/clinvar/361279 ^@ NM_178857.5(RP1L1):c.4448C>T (p.Ala1483Val) http://identifiers.org/clinvar/302394 ^@ NM_024740.2(ALG9):c.*2230A>C http://identifiers.org/clinvar/302397 ^@ NM_024740.2(ALG9):c.*1977A>G http://identifiers.org/clinvar/302398 ^@ NM_024740.2(ALG9):c.*1848G>A http://identifiers.org/clinvar/361280 ^@ NM_178857.5(RP1L1):c.4444G>A (p.Gly1482Arg) http://identifiers.org/clinvar/361284 ^@ NM_178857.5(RP1L1):c.4275C>A (p.Asp1425Glu) http://identifiers.org/clinvar/366369 ^@ NM_003383.4(VLDLR):c.1703+10C>G http://identifiers.org/clinvar/302408 ^@ NM_024740.2(ALG9):c.*1536T>C http://identifiers.org/clinvar/366380 ^@ NM_003383.4(VLDLR):c.*460G>A http://identifiers.org/clinvar/302410 ^@ NM_024740.2(ALG9):c.*1307C>T http://identifiers.org/clinvar/366381 ^@ NM_003383.4(VLDLR):c.*490T>G http://identifiers.org/clinvar/366382 ^@ NM_003383.4(VLDLR):c.*517G>C http://identifiers.org/clinvar/366385 ^@ NM_000459.4(TEK):c.-425A>G http://identifiers.org/clinvar/302424 ^@ NM_024740.2(ALG9):c.*229A>G http://identifiers.org/clinvar/302427 ^@ NM_024740.2(ALG9):c.-58A>G http://identifiers.org/clinvar/366391 ^@ NM_000459.4(TEK):c.138C>T (p.Ala46=) http://identifiers.org/clinvar/302428 ^@ NM_001885.2(CRYAB):c.*107A>G http://identifiers.org/clinvar/302429 ^@ NM_001885.2(CRYAB):c.*39T>C http://identifiers.org/clinvar/361312 ^@ NM_178857.5(RP1L1):c.3340T>A (p.Ser1114Thr) http://identifiers.org/clinvar/302432 ^@ NM_001885.2(CRYAB):c.102G>T (p.Glu34Asp) http://identifiers.org/clinvar/361318 ^@ NM_178857.5(RP1L1):c.3231C>G (p.Gly1077=) http://identifiers.org/clinvar/302435 ^@ NM_001931.4(DLAT):c.-637G>A http://identifiers.org/clinvar/302443 ^@ NM_001931.4(DLAT):c.-222C>T http://identifiers.org/clinvar/361322 ^@ NM_178857.5(RP1L1):c.3022C>G (p.Gln1008Glu) http://identifiers.org/clinvar/366398 ^@ NM_133497.3(KCNV2):c.-180G>A http://identifiers.org/clinvar/361285 ^@ NM_178857.5(RP1L1):c.4091_4093delGAG (p.Gly1364del) http://identifiers.org/clinvar/361286 ^@ NM_178857.5(RP1L1):c.4091G>C (p.Gly1364Ala) http://identifiers.org/clinvar/366403 ^@ NM_133497.3(KCNV2):c.-42C>G http://identifiers.org/clinvar/366410 ^@ NM_133497.3(KCNV2):c.132C>T (p.His44=) http://identifiers.org/clinvar/361293 ^@ NM_178857.5(RP1L1):c.4004G>T (p.Gly1335Val) http://identifiers.org/clinvar/366411 ^@ NM_133497.3(KCNV2):c.145G>A (p.Gly49Ser) http://identifiers.org/clinvar/302451 ^@ NM_001931.4(DLAT):c.318C>A (p.Gly106=) http://identifiers.org/clinvar/361295 ^@ NM_178857.5(RP1L1):c.3978_3979insGAA (p.Lys1326_Thr1327insGlu) http://identifiers.org/clinvar/366422 ^@ NM_133497.3(KCNV2):c.1148G>T (p.Arg383Leu) http://identifiers.org/clinvar/366424 ^@ NM_000459.4(TEK):c.1390A>C (p.Asn464His) http://identifiers.org/clinvar/361299 ^@ NM_178857.5(RP1L1):c.3956delCinsGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAG (p.Ala1319delinsGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArg) http://identifiers.org/clinvar/361302 ^@ NM_178857.5(RP1L1):c.3921A>G (p.Lys1307=) http://identifiers.org/clinvar/361303 ^@ NM_178857.5(RP1L1):c.3836A>C (p.Asp1279Ala) http://identifiers.org/clinvar/302459 ^@ NM_001931.4(DLAT):c.1142A>G (p.Asp381Gly) http://identifiers.org/clinvar/302460 ^@ NM_001931.4(DLAT):c.1290+5G>A http://identifiers.org/clinvar/361310 ^@ NM_178857.5(RP1L1):c.3431C>G (p.Ser1144Cys) http://identifiers.org/clinvar/366425 ^@ NM_000459.4(TEK):c.1456G>A (p.Val486Ile) http://identifiers.org/clinvar/302461 ^@ NM_001931.4(DLAT):c.1399-13C>T http://identifiers.org/clinvar/366426 ^@ NM_000459.4(TEK):c.1565G>T (p.Arg522Leu) http://identifiers.org/clinvar/302462 ^@ NM_001931.4(DLAT):c.1692G>A (p.Thr564=) http://identifiers.org/clinvar/366431 ^@ NM_000459.4(TEK):c.1834G>A (p.Val612Met) http://identifiers.org/clinvar/302465 ^@ NM_001931.4(DLAT):c.*168G>A http://identifiers.org/clinvar/302471 ^@ NM_001931.4(DLAT):c.*873T>C http://identifiers.org/clinvar/361315 ^@ NM_178857.5(RP1L1):c.3303C>G (p.Pro1101=) http://identifiers.org/clinvar/302472 ^@ NM_001931.4(DLAT):c.*920A>G http://identifiers.org/clinvar/361316 ^@ NM_178857.5(RP1L1):c.3263C>T (p.Ala1088Val) http://identifiers.org/clinvar/302475 ^@ NM_001931.4(DLAT):c.*1232_*1235dupAGGA http://identifiers.org/clinvar/361317 ^@ NM_178857.5(RP1L1):c.3255C>G (p.Ile1085Met) http://identifiers.org/clinvar/302477 ^@ NM_001931.4(DLAT):c.*1318A>G http://identifiers.org/clinvar/361338 ^@ NM_178857.5(RP1L1):c.2643C>T (p.Ala881=) http://identifiers.org/clinvar/361323 ^@ NM_178857.5(RP1L1):c.3019G>A (p.Ala1007Thr) http://identifiers.org/clinvar/366435 ^@ NM_000459.4(TEK):c.1973C>A (p.Ser658Tyr) http://identifiers.org/clinvar/366436 ^@ NM_000459.4(TEK):c.2052C>T (p.His684=) http://identifiers.org/clinvar/366440 ^@ NM_000459.4(TEK):c.2444T>C (p.Ile815Thr) http://identifiers.org/clinvar/361340 ^@ NM_178857.5(RP1L1):c.2578C>T (p.Arg860Trp) http://identifiers.org/clinvar/366446 ^@ NM_000459.4(TEK):c.2877+8C>T http://identifiers.org/clinvar/366448 ^@ NM_000459.4(TEK):c.3090G>A (p.Glu1030=) http://identifiers.org/clinvar/361342 ^@ NM_178857.5(RP1L1):c.2499G>A (p.Pro833=) http://identifiers.org/clinvar/302491 ^@ NM_003002.3(SDHD):c.*587A>G http://identifiers.org/clinvar/302494 ^@ NM_003002.3(SDHD):c.*663A>G http://identifiers.org/clinvar/366449 ^@ NM_000459.4(TEK):c.3104-15C>G http://identifiers.org/clinvar/366450 ^@ NM_000459.4(TEK):c.3123G>A (p.Gly1041=) http://identifiers.org/clinvar/366451 ^@ NM_000459.4(TEK):c.3151C>T (p.Leu1051=) http://identifiers.org/clinvar/361324 ^@ NM_178857.5(RP1L1):c.2992C>A (p.His998Asn) http://identifiers.org/clinvar/302495 ^@ NM_003002.3(SDHD):c.*738T>A http://identifiers.org/clinvar/302497 ^@ NM_000317.2(PTS):c.132C>T (p.Asn44=) http://identifiers.org/clinvar/366457 ^@ NM_000459.4(TEK):c.3369G>A (p.Ala1123=) http://identifiers.org/clinvar/302499 ^@ NM_000317.2(PTS):c.405T>C (p.Thr135=) http://identifiers.org/clinvar/366458 ^@ NM_000459.4(TEK):c.*52T>A http://identifiers.org/clinvar/366463 ^@ NM_000459.4(TEK):c.*314C>G http://identifiers.org/clinvar/361346 ^@ NM_178857.5(RP1L1):c.2398C>A (p.Pro800Thr) http://identifiers.org/clinvar/302502 ^@ NM_000039.2(APOA1):c.562G>T (p.Ala188Ser) http://identifiers.org/clinvar/361348 ^@ NM_178857.5(RP1L1):c.2383G>A (p.Glu795Lys) http://identifiers.org/clinvar/366464 ^@ NM_000459.4(TEK):c.*330A>G http://identifiers.org/clinvar/361327 ^@ NM_178857.5(RP1L1):c.2928G>A (p.Ala976=) http://identifiers.org/clinvar/366466 ^@ NM_000459.4(TEK):c.*484C>G http://identifiers.org/clinvar/366467 ^@ NM_000459.4(TEK):c.*522_*523delTC http://identifiers.org/clinvar/361330 ^@ NM_178857.5(RP1L1):c.2899G>A (p.Glu967Lys) http://identifiers.org/clinvar/361332 ^@ NM_178857.5(RP1L1):c.2845C>T (p.Pro949Ser) http://identifiers.org/clinvar/361361 ^@ NM_178857.5(RP1L1):c.2037C>G (p.Asp679Glu) http://identifiers.org/clinvar/361363 ^@ NM_178857.5(RP1L1):c.1870G>A (p.Ala624Thr) http://identifiers.org/clinvar/302504 ^@ NM_000039.2(APOA1):c.480G>T (p.Glu160Asp) http://identifiers.org/clinvar/361365 ^@ NM_178857.5(RP1L1):c.1821A>C (p.Thr607=) http://identifiers.org/clinvar/302505 ^@ NM_000039.2(APOA1):c.454G>A (p.Glu152Lys) http://identifiers.org/clinvar/366469 ^@ NM_000459.4(TEK):c.*555C>T http://identifiers.org/clinvar/302508 ^@ NM_000039.2(APOA1):c.168G>A (p.Gln56=) http://identifiers.org/clinvar/302511 ^@ NM_000039.2(APOA1):c.9T>C (p.Ala3=) http://identifiers.org/clinvar/361370 ^@ NM_178857.5(RP1L1):c.1555G>A (p.Gly519Ser) http://identifiers.org/clinvar/302512 ^@ NM_000039.2(APOA1):c.-11G>A http://identifiers.org/clinvar/302513 ^@ NM_001680.4(FXYD2):c.*215G>A http://identifiers.org/clinvar/302516 ^@ NM_001680.4(FXYD2):c.*124T>A http://identifiers.org/clinvar/361333 ^@ NM_178857.5(RP1L1):c.2791G>C (p.Gly931Arg) http://identifiers.org/clinvar/302517 ^@ NM_001680.4(FXYD2):c.*105C>T http://identifiers.org/clinvar/366481 ^@ NM_133497.3(KCNV2):c.*170A>G http://identifiers.org/clinvar/366493 ^@ NM_001256054.2(C9orf72):c.*794_*797delCTGT http://identifiers.org/clinvar/302518 ^@ NM_001680.4(FXYD2):c.*78C>A http://identifiers.org/clinvar/302523 ^@ NM_001680.4(FXYD2):c.183C>T (p.Ile61=) http://identifiers.org/clinvar/361377 ^@ NM_178857.5(RP1L1):c.1340G>C (p.Arg447Thr) http://identifiers.org/clinvar/366499 ^@ NM_001256054.2(C9orf72):c.*317A>G http://identifiers.org/clinvar/361345 ^@ NM_178857.5(RP1L1):c.2413C>G (p.Pro805Ala) http://identifiers.org/clinvar/302533 ^@ NM_001558.3(IL10RA):c.67+15C>T http://identifiers.org/clinvar/366502 ^@ NM_001256054.2(C9orf72):c.*248T>C http://identifiers.org/clinvar/302537 ^@ NM_001558.3(IL10RA):c.144C>T (p.Ile48=) http://identifiers.org/clinvar/302557 ^@ NM_001558.3(IL10RA):c.1281C>T (p.Pro427=) http://identifiers.org/clinvar/361349 ^@ NM_178857.5(RP1L1):c.2375T>C (p.Leu792Pro) http://identifiers.org/clinvar/361350 ^@ NM_178857.5(RP1L1):c.2365G>A (p.Ala789Thr) http://identifiers.org/clinvar/361353 ^@ NM_178857.5(RP1L1):c.2268C>T (p.Asn756=) http://identifiers.org/clinvar/302559 ^@ NM_001558.3(IL10RA):c.1452G>A (p.Glu484=) http://identifiers.org/clinvar/361378 ^@ NM_178857.5(RP1L1):c.1320C>T (p.His440=) http://identifiers.org/clinvar/361383 ^@ NM_178857.5(RP1L1):c.1138G>A (p.Gly380Arg) http://identifiers.org/clinvar/361384 ^@ NM_178857.5(RP1L1):c.1128C>G (p.Phe376Leu) http://identifiers.org/clinvar/361385 ^@ NM_178857.5(RP1L1):c.1090C>G (p.Pro364Ala) http://identifiers.org/clinvar/361387 ^@ NM_178857.5(RP1L1):c.1007C>T (p.Thr336Met) http://identifiers.org/clinvar/366503 ^@ NM_001256054.2(C9orf72):c.*174C>T http://identifiers.org/clinvar/361354 ^@ NM_178857.5(RP1L1):c.2191G>A (p.Asp731Asn) http://identifiers.org/clinvar/361391 ^@ NM_178857.5(RP1L1):c.850C>G (p.Pro284Ala) http://identifiers.org/clinvar/361355 ^@ NM_178857.5(RP1L1):c.2174G>T (p.Gly725Val) http://identifiers.org/clinvar/302562 ^@ NM_001558.3(IL10RA):c.*354T>C http://identifiers.org/clinvar/302564 ^@ NM_001558.3(IL10RA):c.*639C>T http://identifiers.org/clinvar/302568 ^@ NM_001558.3(IL10RA):c.*863C>T http://identifiers.org/clinvar/361356 ^@ NM_178857.5(RP1L1):c.2172G>A (p.Ser724=) http://identifiers.org/clinvar/361364 ^@ NM_178857.5(RP1L1):c.1862C>G (p.Ser621Trp) http://identifiers.org/clinvar/361396 ^@ NM_178857.5(RP1L1):c.776C>A (p.Pro259Gln) http://identifiers.org/clinvar/302569 ^@ NM_001558.3(IL10RA):c.*866C>A http://identifiers.org/clinvar/302571 ^@ NM_001558.3(IL10RA):c.*1058A>G http://identifiers.org/clinvar/302572 ^@ NM_001558.3(IL10RA):c.*1348G>C http://identifiers.org/clinvar/361398 ^@ NM_178857.5(RP1L1):c.670G>A (p.Ala224Thr) http://identifiers.org/clinvar/361399 ^@ NM_178857.5(RP1L1):c.665A>C (p.His222Pro) http://identifiers.org/clinvar/366508 ^@ NM_001256054.2(C9orf72):c.1404C>T (p.Phe468=) http://identifiers.org/clinvar/302574 ^@ NM_001558.3(IL10RA):c.*1375C>A http://identifiers.org/clinvar/366523 ^@ NM_001256054.2(C9orf72):c.1149+9T>C http://identifiers.org/clinvar/361401 ^@ NM_178857.5(RP1L1):c.610-13G>A http://identifiers.org/clinvar/366525 ^@ NM_001256054.2(C9orf72):c.792G>T (p.Arg264Ser) http://identifiers.org/clinvar/361409 ^@ NM_178857.5(RP1L1):c.444T>G (p.Leu148=) http://identifiers.org/clinvar/366529 ^@ NM_001256054.2(C9orf72):c.-27G>A http://identifiers.org/clinvar/366530 ^@ NM_001256054.2(C9orf72):c.-47G>A http://identifiers.org/clinvar/366535 ^@ NM_001256054.2(C9orf72):c.-173A>G http://identifiers.org/clinvar/302591 ^@ NM_174934.3(SCN4B):c.*2879T>C http://identifiers.org/clinvar/361371 ^@ NM_178857.5(RP1L1):c.1551A>G (p.Gln517=) http://identifiers.org/clinvar/302596 ^@ NM_174934.3(SCN4B):c.*2497G>A http://identifiers.org/clinvar/302598 ^@ NM_174934.3(SCN4B):c.*2487G>C http://identifiers.org/clinvar/302604 ^@ NM_174934.3(SCN4B):c.*2120A>C http://identifiers.org/clinvar/361411 ^@ NM_178857.5(RP1L1):c.420C>A (p.Gly140=) http://identifiers.org/clinvar/361423 ^@ NM_178857.5(RP1L1):c.168C>A (p.Arg56=) http://identifiers.org/clinvar/366538 ^@ NM_203447.3(DOCK8):c.380G>A (p.Arg127His) http://identifiers.org/clinvar/302605 ^@ NM_174934.3(SCN4B):c.*2080G>T http://identifiers.org/clinvar/361376 ^@ NM_178857.5(RP1L1):c.1434C>T (p.Asp478=) http://identifiers.org/clinvar/302610 ^@ NM_174934.3(SCN4B):c.*1819C>T http://identifiers.org/clinvar/361382 ^@ NM_178857.5(RP1L1):c.1268G>C (p.Arg423Pro) http://identifiers.org/clinvar/302615 ^@ NM_174934.3(SCN4B):c.*1334G>A http://identifiers.org/clinvar/302619 ^@ NM_174934.3(SCN4B):c.*1053T>C http://identifiers.org/clinvar/366552 ^@ NM_005802.4(TOPORS):c.*341T>C http://identifiers.org/clinvar/361394 ^@ NM_178857.5(RP1L1):c.793C>G (p.Arg265Gly) http://identifiers.org/clinvar/302623 ^@ NM_174934.3(SCN4B):c.*988_*989insA http://identifiers.org/clinvar/361402 ^@ NM_178857.5(RP1L1):c.568C>T (p.Arg190Cys) http://identifiers.org/clinvar/361408 ^@ NM_178857.5(RP1L1):c.487C>G (p.Arg163Gly) http://identifiers.org/clinvar/361428 ^@ NM_178857.5(RP1L1):c.109A>G (p.Thr37Ala) http://identifiers.org/clinvar/302624 ^@ NM_174934.3(SCN4B):c.*987C>G http://identifiers.org/clinvar/361413 ^@ NM_178857.5(RP1L1):c.407G>A (p.Arg136His) http://identifiers.org/clinvar/302629 ^@ NM_174934.3(SCN4B):c.*924_*934dupGCTTCTCCCCC http://identifiers.org/clinvar/366556 ^@ NM_005802.4(TOPORS):c.*100C>G http://identifiers.org/clinvar/361432 ^@ NM_178857.5(RP1L1):c.24C>G (p.Ala8=) http://identifiers.org/clinvar/366557 ^@ NM_005802.4(TOPORS):c.*47A>G http://identifiers.org/clinvar/366562 ^@ NM_005802.4(TOPORS):c.2567A>G (p.Lys856Arg) http://identifiers.org/clinvar/366564 ^@ NM_005802.4(TOPORS):c.2435C>G (p.Pro812Arg) http://identifiers.org/clinvar/361438 ^@ NM_178857.5(RP1L1):c.-153C>A http://identifiers.org/clinvar/302643 ^@ NM_174934.3(SCN4B):c.*362G>T http://identifiers.org/clinvar/361456 ^@ NM_001715.2(BLK):c.-531C>T http://identifiers.org/clinvar/361418 ^@ NM_178857.5(RP1L1):c.289G>C (p.Glu97Gln) http://identifiers.org/clinvar/302644 ^@ NM_174934.3(SCN4B):c.*258T>A http://identifiers.org/clinvar/302645 ^@ NM_174934.3(SCN4B):c.613T>A (p.Ser205Thr) http://identifiers.org/clinvar/302646 ^@ NM_174934.3(SCN4B):c.482C>G (p.Thr161Arg) http://identifiers.org/clinvar/366568 ^@ NM_005802.4(TOPORS):c.1788A>C (p.Arg596Ser) http://identifiers.org/clinvar/302648 ^@ NM_174934.3(SCN4B):c.176T>C (p.Phe59Ser) http://identifiers.org/clinvar/302650 ^@ NM_174934.3(SCN4B):c.-15G>A http://identifiers.org/clinvar/302654 ^@ NM_174934.3(SCN4B):c.-222T>A http://identifiers.org/clinvar/302655 ^@ NM_174934.3(SCN4B):c.-223G>T http://identifiers.org/clinvar/361419 ^@ NM_178857.5(RP1L1):c.275C>T (p.Ala92Val) http://identifiers.org/clinvar/361420 ^@ NM_178857.5(RP1L1):c.273C>T (p.Ser91=) http://identifiers.org/clinvar/366570 ^@ NM_005802.4(TOPORS):c.1426G>C (p.Asp476His) http://identifiers.org/clinvar/302658 ^@ NM_000733.3(CD3E):c.-73T>C http://identifiers.org/clinvar/366572 ^@ NM_005802.4(TOPORS):c.576G>T (p.Val192=) http://identifiers.org/clinvar/361422 ^@ NM_178857.5(RP1L1):c.217C>T (p.Pro73Ser) http://identifiers.org/clinvar/302661 ^@ NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) http://identifiers.org/clinvar/361425 ^@ NM_178857.5(RP1L1):c.130C>G (p.Pro44Ala) http://identifiers.org/clinvar/361464 ^@ NM_001715.2(BLK):c.-304C>G http://identifiers.org/clinvar/302676 ^@ NM_000732.4(CD3D):c.-93C>T http://identifiers.org/clinvar/361433 ^@ NM_178857.5(RP1L1):c.23C>G (p.Ala8Gly) http://identifiers.org/clinvar/361510 ^@ NM_014112.4(TRPS1):c.*5300_*5303delAGAA http://identifiers.org/clinvar/302678 ^@ NM_000073.2(CD3G):c.-46_-43delGCTG http://identifiers.org/clinvar/361512 ^@ NM_014112.4(TRPS1):c.*5238A>T http://identifiers.org/clinvar/361518 ^@ NM_014112.4(TRPS1):c.*4835A>T http://identifiers.org/clinvar/361523 ^@ NM_014112.4(TRPS1):c.*4747T>G http://identifiers.org/clinvar/366573 ^@ NM_005802.4(TOPORS):c.264A>G (p.Lys88=) http://identifiers.org/clinvar/361528 ^@ NM_014112.4(TRPS1):c.*4657C>T http://identifiers.org/clinvar/361534 ^@ NM_014112.4(TRPS1):c.*4598_*4602delAAAGG http://identifiers.org/clinvar/361536 ^@ NM_014112.4(TRPS1):c.*4465G>A http://identifiers.org/clinvar/361541 ^@ NM_014112.4(TRPS1):c.*4114T>G http://identifiers.org/clinvar/361544 ^@ NM_014112.4(TRPS1):c.*4104G>A http://identifiers.org/clinvar/361434 ^@ NM_178857.5(RP1L1):c.9C>T (p.Ser3=) http://identifiers.org/clinvar/366575 ^@ NM_005802.4(TOPORS):c.-64C>T http://identifiers.org/clinvar/361546 ^@ NM_014112.4(TRPS1):c.*3674T>C http://identifiers.org/clinvar/361435 ^@ NM_178857.5(RP1L1):c.-12A>C http://identifiers.org/clinvar/366598 ^@ NM_001497.3(B4GALT1):c.*2759T>G http://identifiers.org/clinvar/302680 ^@ NM_000073.2(CD3G):c.32T>C (p.Ile11Thr) http://identifiers.org/clinvar/302681 ^@ NM_000073.2(CD3G):c.158T>C (p.Ile53Thr) http://identifiers.org/clinvar/361440 ^@ NM_178857.5(RP1L1):c.-208C>A http://identifiers.org/clinvar/366600 ^@ NM_001497.3(B4GALT1):c.*2718G>C http://identifiers.org/clinvar/366604 ^@ NM_001497.3(B4GALT1):c.*2458C>T http://identifiers.org/clinvar/366612 ^@ NM_001497.3(B4GALT1):c.*2200_*2203delTTTT http://identifiers.org/clinvar/361547 ^@ NM_014112.4(TRPS1):c.*3636A>G http://identifiers.org/clinvar/366617 ^@ NM_001497.3(B4GALT1):c.*2104T>C http://identifiers.org/clinvar/302684 ^@ NM_000073.2(CD3G):c.390T>C (p.Ala130=) http://identifiers.org/clinvar/302691 ^@ NM_000073.2(CD3G):c.*450T>G http://identifiers.org/clinvar/302698 ^@ NM_001164277.1(SLC37A4):c.*283T>C http://identifiers.org/clinvar/361552 ^@ NM_014112.4(TRPS1):c.*3181T>G http://identifiers.org/clinvar/302699 ^@ NM_001164277.1(SLC37A4):c.*139G>T http://identifiers.org/clinvar/366627 ^@ NM_001497.3(B4GALT1):c.*1337C>G http://identifiers.org/clinvar/302702 ^@ NM_001164277.1(SLC37A4):c.*31C>T http://identifiers.org/clinvar/302705 ^@ NM_001164277.1(SLC37A4):c.1119C>T (p.Ala373=) http://identifiers.org/clinvar/302715 ^@ NM_001164277.1(SLC37A4):c.-279C>T http://identifiers.org/clinvar/361461 ^@ NM_001715.2(BLK):c.-441C>A http://identifiers.org/clinvar/361468 ^@ NM_001715.2(BLK):c.-190C>T http://identifiers.org/clinvar/366629 ^@ NM_001497.3(B4GALT1):c.*1327T>C http://identifiers.org/clinvar/302729 ^@ NM_000190.3(HMBS):c.345-9C>T http://identifiers.org/clinvar/366630 ^@ NM_001497.3(B4GALT1):c.*1122C>T http://identifiers.org/clinvar/366634 ^@ NM_001497.3(B4GALT1):c.*1005C>A http://identifiers.org/clinvar/366639 ^@ NM_001497.3(B4GALT1):c.*714G>C http://identifiers.org/clinvar/361511 ^@ NM_014112.4(TRPS1):c.*5264T>A http://identifiers.org/clinvar/361554 ^@ NM_014112.4(TRPS1):c.*3035A>G http://identifiers.org/clinvar/366641 ^@ NM_001497.3(B4GALT1):c.*705dupT http://identifiers.org/clinvar/302743 ^@ NM_001382.3(DPAGT1):c.*369A>G http://identifiers.org/clinvar/302744 ^@ NM_001382.3(DPAGT1):c.*265A>G http://identifiers.org/clinvar/361561 ^@ NM_014112.4(TRPS1):c.*2761A= http://identifiers.org/clinvar/366642 ^@ NM_001497.3(B4GALT1):c.*414G>C http://identifiers.org/clinvar/302746 ^@ NM_001382.3(DPAGT1):c.1221T>C (p.Asp407=) http://identifiers.org/clinvar/366644 ^@ NM_001497.3(B4GALT1):c.*331C>T http://identifiers.org/clinvar/302748 ^@ NM_001382.3(DPAGT1):c.717C>T (p.Leu239=) http://identifiers.org/clinvar/302752 ^@ NM_001382.3(DPAGT1):c.96C>T (p.Phe32=) http://identifiers.org/clinvar/302757 ^@ NM_001382.3(DPAGT1):c.-349T>C http://identifiers.org/clinvar/361519 ^@ NM_014112.4(TRPS1):c.*4817G= http://identifiers.org/clinvar/302763 ^@ NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG http://identifiers.org/clinvar/361562 ^@ NM_014112.4(TRPS1):c.*2752_*2754delATA http://identifiers.org/clinvar/361565 ^@ NM_014112.4(TRPS1):c.*2539G>T http://identifiers.org/clinvar/361574 ^@ NM_014112.4(TRPS1):c.*2255C>T http://identifiers.org/clinvar/361521 ^@ NM_014112.4(TRPS1):c.*4761T>C http://identifiers.org/clinvar/361522 ^@ NM_014112.4(TRPS1):c.*4751T>G http://identifiers.org/clinvar/366648 ^@ NM_001497.3(B4GALT1):c.*251C>G http://identifiers.org/clinvar/366652 ^@ NM_001497.3(B4GALT1):c.*130G>A http://identifiers.org/clinvar/366653 ^@ NM_001497.3(B4GALT1):c.1156T>C (p.Leu386=) http://identifiers.org/clinvar/302769 ^@ NM_005188.3(CBL):c.-122C>T http://identifiers.org/clinvar/366654 ^@ NM_001497.3(B4GALT1):c.1073G>A (p.Arg358Gln) http://identifiers.org/clinvar/366665 ^@ NM_001497.3(B4GALT1):c.39G>A (p.Ala13=) http://identifiers.org/clinvar/366668 ^@ NM_001497.3(B4GALT1):c.-81G>A http://identifiers.org/clinvar/366672 ^@ NM_001497.3(B4GALT1):c.-159G>C http://identifiers.org/clinvar/361587 ^@ NM_014112.4(TRPS1):c.*1394T>C http://identifiers.org/clinvar/361524 ^@ NM_014112.4(TRPS1):c.*4741delG http://identifiers.org/clinvar/366673 ^@ NM_203447.3(DOCK8):c.1391C>A (p.Ser464Tyr) http://identifiers.org/clinvar/361588 ^@ NM_014112.4(TRPS1):c.*1253A>G http://identifiers.org/clinvar/361535 ^@ NM_014112.4(TRPS1):c.*4557G>T http://identifiers.org/clinvar/366675 ^@ NM_203447.3(DOCK8):c.1441G>A (p.Asp481Asn) http://identifiers.org/clinvar/361590 ^@ NM_014112.4(TRPS1):c.*1121G>T http://identifiers.org/clinvar/361473 ^@ NM_001715.2(BLK):c.41C>T (p.Pro14Leu) http://identifiers.org/clinvar/361474 ^@ NM_001715.2(BLK):c.153G>A (p.Pro51=) http://identifiers.org/clinvar/302760 ^@ NM_005188.3(CBL):c.-103_-95dupGGCGGCGGC http://identifiers.org/clinvar/361481 ^@ NM_001715.2(BLK):c.571C>A (p.Pro191Thr) http://identifiers.org/clinvar/366695 ^@ NM_012144.3(DNAI1):c.1999A>G (p.Lys667Glu) http://identifiers.org/clinvar/366699 ^@ NM_000155.3(GALT):c.688-4C>T http://identifiers.org/clinvar/302773 ^@ NM_005188.3(CBL):c.-79C>T http://identifiers.org/clinvar/366700 ^@ NM_000155.3(GALT):c.843G>A (p.Lys281=) http://identifiers.org/clinvar/366701 ^@ NM_000155.3(GALT):c.904+2T>G http://identifiers.org/clinvar/302775 ^@ NM_005188.3(CBL):c.41G>A (p.Gly14Asp) http://identifiers.org/clinvar/302789 ^@ NM_005188.3(CBL):c.*39G>A http://identifiers.org/clinvar/366705 ^@ NM_007126.3(VCP):c.*788G>A http://identifiers.org/clinvar/302790 ^@ NM_005188.3(CBL):c.*239A>G http://identifiers.org/clinvar/302791 ^@ NM_005188.3(CBL):c.*282C>G http://identifiers.org/clinvar/302793 ^@ NM_005188.3(CBL):c.*513A>G http://identifiers.org/clinvar/361539 ^@ NM_014112.4(TRPS1):c.*4289G>T http://identifiers.org/clinvar/361542 ^@ NM_014112.4(TRPS1):c.*4105A>G http://identifiers.org/clinvar/366709 ^@ NM_007126.3(VCP):c.*384delT http://identifiers.org/clinvar/302797 ^@ NM_005188.3(CBL):c.*918T>C http://identifiers.org/clinvar/369687 ^@ NM_014112.4(TRPS1):c.*3538delT http://identifiers.org/clinvar/302799 ^@ NM_005188.3(CBL):c.*950G>T http://identifiers.org/clinvar/366711 ^@ NM_007126.3(VCP):c.*347C>T http://identifiers.org/clinvar/302800 ^@ NM_005188.3(CBL):c.*986A>C http://identifiers.org/clinvar/361556 ^@ NM_014112.4(TRPS1):c.*2882T>C http://identifiers.org/clinvar/302801 ^@ NM_005188.3(CBL):c.*1038delT http://identifiers.org/clinvar/361557 ^@ NM_014112.4(TRPS1):c.*2851C>T http://identifiers.org/clinvar/361559 ^@ NM_014112.4(TRPS1):c.*2842G>A http://identifiers.org/clinvar/361560 ^@ NM_014112.4(TRPS1):c.*2827G= http://identifiers.org/clinvar/361564 ^@ NM_014112.4(TRPS1):c.*2675G>A http://identifiers.org/clinvar/361567 ^@ NM_014112.4(TRPS1):c.*2537delT http://identifiers.org/clinvar/366713 ^@ NM_007126.3(VCP):c.*172C>G http://identifiers.org/clinvar/302817 ^@ NM_005188.3(CBL):c.*1965G>A http://identifiers.org/clinvar/302818 ^@ NM_005188.3(CBL):c.*2045A>G http://identifiers.org/clinvar/366723 ^@ NM_007126.3(VCP):c.-215A>G http://identifiers.org/clinvar/366725 ^@ NM_007126.3(VCP):c.-250C>T http://identifiers.org/clinvar/366726 ^@ NM_007126.3(VCP):c.-267C>T http://identifiers.org/clinvar/361485 ^@ NM_001715.2(BLK):c.711C>T (p.Pro237=) http://identifiers.org/clinvar/361568 ^@ NM_014112.4(TRPS1):c.*2417G>A http://identifiers.org/clinvar/361569 ^@ NM_014112.4(TRPS1):c.*2405A>G http://identifiers.org/clinvar/302821 ^@ NM_005188.3(CBL):c.*2176T>C http://identifiers.org/clinvar/361570 ^@ NM_014112.4(TRPS1):c.*2378A>C http://identifiers.org/clinvar/302822 ^@ NM_005188.3(CBL):c.*2224A>G http://identifiers.org/clinvar/361571 ^@ NM_014112.4(TRPS1):c.*2329A>G http://identifiers.org/clinvar/361572 ^@ NM_014112.4(TRPS1):c.*2317C>T http://identifiers.org/clinvar/361488 ^@ NM_001715.2(BLK):c.892C>T (p.Arg298Ter) http://identifiers.org/clinvar/361614 ^@ NM_014112.4(TRPS1):c.2485C>G (p.Pro829Ala) http://identifiers.org/clinvar/361573 ^@ NM_014112.4(TRPS1):c.*2290C>T http://identifiers.org/clinvar/361616 ^@ NM_014112.4(TRPS1):c.2441G>T (p.Arg814Leu) http://identifiers.org/clinvar/361617 ^@ NM_014112.4(TRPS1):c.2223G>A (p.Glu741=) http://identifiers.org/clinvar/361620 ^@ NM_014112.4(TRPS1):c.1857G>A (p.Ala619=) http://identifiers.org/clinvar/366744 ^@ NM_004629.1(FANCG):c.-453_-452insT http://identifiers.org/clinvar/361491 ^@ NM_001715.2(BLK):c.1057C>T (p.Arg353Cys) http://identifiers.org/clinvar/302825 ^@ NM_005188.3(CBL):c.*2619C>T http://identifiers.org/clinvar/302830 ^@ NM_005188.3(CBL):c.*3106delT http://identifiers.org/clinvar/361627 ^@ NM_014112.4(TRPS1):c.665A>G (p.Asn222Ser) http://identifiers.org/clinvar/302833 ^@ NM_005188.3(CBL):c.*3241dupG http://identifiers.org/clinvar/366745 ^@ NM_004629.1(FANCG):c.-488G>A http://identifiers.org/clinvar/302835 ^@ NM_005188.3(CBL):c.*3336A>G http://identifiers.org/clinvar/361578 ^@ NM_014112.4(TRPS1):c.*2086G>T http://identifiers.org/clinvar/361579 ^@ NM_014112.4(TRPS1):c.*2010dupA http://identifiers.org/clinvar/361581 ^@ NM_014112.4(TRPS1):c.*1983_*1984insG http://identifiers.org/clinvar/361628 ^@ NM_014112.4(TRPS1):c.603A>G (p.Gln201=) http://identifiers.org/clinvar/302848 ^@ NM_005188.3(CBL):c.*4177C>T http://identifiers.org/clinvar/361630 ^@ NM_014112.4(TRPS1):c.475G>T (p.Asp159Tyr) http://identifiers.org/clinvar/361633 ^@ NM_014112.4(TRPS1):c.170A>G (p.Glu57Gly) http://identifiers.org/clinvar/302850 ^@ NM_005188.3(CBL):c.*4302C>T http://identifiers.org/clinvar/302853 ^@ NM_005188.3(CBL):c.*4818C>T http://identifiers.org/clinvar/302858 ^@ NM_005188.3(CBL):c.*4931T>C http://identifiers.org/clinvar/361495 ^@ NM_001715.2(BLK):c.1308C>T (p.Tyr436=) http://identifiers.org/clinvar/366749 ^@ NM_032634.3(PIGO):c.*267C>G http://identifiers.org/clinvar/366751 ^@ NM_032634.3(PIGO):c.*41T>G http://identifiers.org/clinvar/361502 ^@ NM_001715.2(BLK):c.*289G>A http://identifiers.org/clinvar/361584 ^@ NM_014112.4(TRPS1):c.*1843delT http://identifiers.org/clinvar/361503 ^@ NM_001715.2(BLK):c.*324G>A http://identifiers.org/clinvar/302864 ^@ NM_005188.3(CBL):c.*5139C>T http://identifiers.org/clinvar/361638 ^@ NM_014112.4(TRPS1):c.-237C>T http://identifiers.org/clinvar/361589 ^@ NM_014112.4(TRPS1):c.*1143T>C http://identifiers.org/clinvar/366755 ^@ NM_032634.3(PIGO):c.2807C>G (p.Ala936Gly) http://identifiers.org/clinvar/366756 ^@ NM_032634.3(PIGO):c.2166G>C (p.Ala722=) http://identifiers.org/clinvar/366758 ^@ NM_032634.3(PIGO):c.2031G>A (p.Leu677=) http://identifiers.org/clinvar/361641 ^@ NM_014112.4(TRPS1):c.-300_-295delCTCTCT http://identifiers.org/clinvar/366762 ^@ NM_032634.3(PIGO):c.468C>T (p.His156=) http://identifiers.org/clinvar/361593 ^@ NM_014112.4(TRPS1):c.*616G>A http://identifiers.org/clinvar/302868 ^@ NM_005188.3(CBL):c.*5717T>G http://identifiers.org/clinvar/366769 ^@ NM_003289.3(TPM2):c.773-4_773-3insA http://identifiers.org/clinvar/366771 ^@ NM_003289.3(TPM2):c.-10C>A http://identifiers.org/clinvar/366772 ^@ NM_003289.3(TPM2):c.-65C>T http://identifiers.org/clinvar/302869 ^@ NM_005188.3(CBL):c.*5718C>A http://identifiers.org/clinvar/361596 ^@ NM_014112.4(TRPS1):c.*508G>A http://identifiers.org/clinvar/302871 ^@ NM_005188.3(CBL):c.*5771T>A http://identifiers.org/clinvar/302875 ^@ NM_005188.3(CBL):c.*5907T>C http://identifiers.org/clinvar/361642 ^@ NM_014112.4(TRPS1):c.-298C>T http://identifiers.org/clinvar/361650 ^@ NM_000127.2(EXT1):c.*151T>C http://identifiers.org/clinvar/361651 ^@ NM_000127.2(EXT1):c.*146G>C http://identifiers.org/clinvar/366775 ^@ NM_003289.3(TPM2):c.-238C>T http://identifiers.org/clinvar/366776 ^@ NM_003995.3(NPR2):c.18T>C (p.Leu6=) http://identifiers.org/clinvar/361652 ^@ NM_000127.2(EXT1):c.*82C>G http://identifiers.org/clinvar/361599 ^@ NM_014112.4(TRPS1):c.*431C>T http://identifiers.org/clinvar/302877 ^@ NM_005188.3(CBL):c.*5986T>C http://identifiers.org/clinvar/302882 ^@ NM_005188.3(CBL):c.*6175A>G http://identifiers.org/clinvar/302885 ^@ NM_005188.3(CBL):c.*6430G>C http://identifiers.org/clinvar/361600 ^@ NM_014112.4(TRPS1):c.*401A>C http://identifiers.org/clinvar/361654 ^@ NM_000127.2(EXT1):c.1782G>A (p.Ala594=) http://identifiers.org/clinvar/361601 ^@ NM_014112.4(TRPS1):c.*391T>C http://identifiers.org/clinvar/361657 ^@ NM_000127.2(EXT1):c.1239G>T (p.Glu413Asp) http://identifiers.org/clinvar/366778 ^@ NM_003995.3(NPR2):c.312T>C (p.Pro104=) http://identifiers.org/clinvar/361663 ^@ NM_000127.2(EXT1):c.-57G>C http://identifiers.org/clinvar/302890 ^@ NM_005188.3(CBL):c.*6732C>A http://identifiers.org/clinvar/361668 ^@ NM_000127.2(EXT1):c.-324C>G http://identifiers.org/clinvar/366785 ^@ NM_003995.3(NPR2):c.1572C>T (p.Tyr524=) http://identifiers.org/clinvar/361674 ^@ NM_000127.2(EXT1):c.-635C>T http://identifiers.org/clinvar/361606 ^@ NM_014112.4(TRPS1):c.3224C>G (p.Ser1075Cys) http://identifiers.org/clinvar/361608 ^@ NM_014112.4(TRPS1):c.3015C>G (p.His1005Gln) http://identifiers.org/clinvar/361609 ^@ NM_014112.4(TRPS1):c.2976G>A (p.Pro992=) http://identifiers.org/clinvar/361611 ^@ NM_014112.4(TRPS1):c.2701-9_2701-8delCT http://identifiers.org/clinvar/361475 ^@ NM_001715.2(BLK):c.177C>G (p.Asp59Glu) http://identifiers.org/clinvar/361476 ^@ NM_001715.2(BLK):c.187G>A (p.Val63Met) http://identifiers.org/clinvar/361477 ^@ NM_001715.2(BLK):c.223C>G (p.Arg75Gly) http://identifiers.org/clinvar/366787 ^@ NM_003995.3(NPR2):c.1794C>T (p.Tyr598=) http://identifiers.org/clinvar/366790 ^@ NM_003995.3(NPR2):c.2337T>C (p.Phe779=) http://identifiers.org/clinvar/361680 ^@ NM_000127.2(EXT1):c.-722T>C http://identifiers.org/clinvar/302894 ^@ NM_005188.3(CBL):c.*7081T>G http://identifiers.org/clinvar/361693 ^@ NM_002546.3(TNFRSF11B):c.400+5G>A http://identifiers.org/clinvar/361695 ^@ NM_002546.3(TNFRSF11B):c.31-7C>T http://identifiers.org/clinvar/361696 ^@ NM_002546.3(TNFRSF11B):c.30+15C>T http://identifiers.org/clinvar/361700 ^@ NM_002546.3(TNFRSF11B):c.-204C>T http://identifiers.org/clinvar/366801 ^@ NM_005476.5(GNE):c.*2448A>G http://identifiers.org/clinvar/361484 ^@ NM_001715.2(BLK):c.672C>T (p.Ala224=) http://identifiers.org/clinvar/366804 ^@ NM_005476.5(GNE):c.*2391C>T http://identifiers.org/clinvar/361613 ^@ NM_014112.4(TRPS1):c.2658G>T (p.Ser886=) http://identifiers.org/clinvar/302895 ^@ NM_005188.3(CBL):c.*7143A>C http://identifiers.org/clinvar/361706 ^@ NM_014846.3(WASHC5):c.*269_*270delGT http://identifiers.org/clinvar/361714 ^@ NM_014846.3(WASHC5):c.2954+13G>T http://identifiers.org/clinvar/361615 ^@ NM_014112.4(TRPS1):c.2460C>T (p.Thr820=) http://identifiers.org/clinvar/302899 ^@ NM_005188.3(CBL):c.*7314T>C http://identifiers.org/clinvar/302900 ^@ NM_005188.3(CBL):c.*7366C>T http://identifiers.org/clinvar/302909 ^@ NM_005188.3(CBL):c.*7904G>A http://identifiers.org/clinvar/366806 ^@ NM_005476.5(GNE):c.*2211C>G http://identifiers.org/clinvar/366809 ^@ NM_005476.5(GNE):c.*2056C>T http://identifiers.org/clinvar/366810 ^@ NM_005476.5(GNE):c.*1826G>C http://identifiers.org/clinvar/302910 ^@ NM_005188.3(CBL):c.*7949C>A http://identifiers.org/clinvar/361622 ^@ NM_014112.4(TRPS1):c.1687T>A (p.Tyr563Asn) http://identifiers.org/clinvar/302911 ^@ NM_005188.3(CBL):c.*7978A>G http://identifiers.org/clinvar/302912 ^@ NM_005188.3(CBL):c.*8012T>C http://identifiers.org/clinvar/302914 ^@ NM_005188.3(CBL):c.*8048G>A http://identifiers.org/clinvar/366819 ^@ NM_005476.5(GNE):c.*1034_*1037dupCACA http://identifiers.org/clinvar/366820 ^@ NM_005476.5(GNE):c.*1032_*1037dupCACACA http://identifiers.org/clinvar/361718 ^@ NM_014846.3(WASHC5):c.2098-13G>A http://identifiers.org/clinvar/361729 ^@ NM_014846.3(WASHC5):c.732G>A (p.Pro244=) http://identifiers.org/clinvar/366824 ^@ NM_005476.5(GNE):c.*937G>A http://identifiers.org/clinvar/366825 ^@ NM_005476.5(GNE):c.*936C>T http://identifiers.org/clinvar/302917 ^@ NM_005188.3(CBL):c.*8164_*8167delCAGA http://identifiers.org/clinvar/302919 ^@ NM_015645.4(C1QTNF5):c.*345G>T http://identifiers.org/clinvar/366829 ^@ NM_005476.5(GNE):c.*722_*724dupAAT http://identifiers.org/clinvar/366831 ^@ NM_005476.5(GNE):c.*694T>A http://identifiers.org/clinvar/361736 ^@ NM_014846.3(WASHC5):c.-20A>G http://identifiers.org/clinvar/302921 ^@ NM_015645.4(C1QTNF5):c.*158C>A http://identifiers.org/clinvar/302924 ^@ NG_012235.1:g.12255T>C http://identifiers.org/clinvar/361624 ^@ NM_014112.4(TRPS1):c.1299C>G (p.Leu433=) http://identifiers.org/clinvar/361626 ^@ NM_014112.4(TRPS1):c.967-14C>T http://identifiers.org/clinvar/361490 ^@ NM_001715.2(BLK):c.1046C>T (p.Ala349Val) http://identifiers.org/clinvar/361737 ^@ NM_014846.3(WASHC5):c.-124-10G>T http://identifiers.org/clinvar/361741 ^@ NM_014846.3(WASHC5):c.-219G>C http://identifiers.org/clinvar/361744 ^@ NM_014846.3(WASHC5):c.-253G>A http://identifiers.org/clinvar/361493 ^@ NM_001715.2(BLK):c.1120T>G (p.Cys374Gly) http://identifiers.org/clinvar/361745 ^@ NM_004519.3(KCNQ3):c.*8148G>A http://identifiers.org/clinvar/361631 ^@ NM_014112.4(TRPS1):c.422C>T (p.Pro141Leu) http://identifiers.org/clinvar/366837 ^@ NM_005476.5(GNE):c.*513G>A http://identifiers.org/clinvar/302925 ^@ NG_012235.1:g.12178C>T http://identifiers.org/clinvar/302945 ^@ NM_015645.4(C1QTNF5):c.-719C>T http://identifiers.org/clinvar/366842 ^@ NM_005476.5(GNE):c.*30C>G http://identifiers.org/clinvar/366843 ^@ NM_005476.5(GNE):c.1816+11delC http://identifiers.org/clinvar/302947 ^@ NG_012235.1:g.10187G>T http://identifiers.org/clinvar/366845 ^@ NM_005476.5(GNE):c.315T>C (p.Asp105=) http://identifiers.org/clinvar/302948 ^@ NM_015645.4(C1QTNF5):c.-888C>G http://identifiers.org/clinvar/361632 ^@ NM_014112.4(TRPS1):c.206A>G (p.His69Arg) http://identifiers.org/clinvar/361504 ^@ NM_001715.2(BLK):c.*348C>G http://identifiers.org/clinvar/361505 ^@ NM_001715.2(BLK):c.*376C>T http://identifiers.org/clinvar/302949 ^@ NG_012235.1:g.9946G>C http://identifiers.org/clinvar/361506 ^@ NM_001715.2(BLK):c.*428G>A http://identifiers.org/clinvar/302953 ^@ NG_012235.1:g.9763C>A http://identifiers.org/clinvar/302954 ^@ NM_015645.4(C1QTNF5):c.-1271G>A http://identifiers.org/clinvar/361507 ^@ NM_001715.2(BLK):c.*444C>A http://identifiers.org/clinvar/361635 ^@ NM_014112.4(TRPS1):c.-139T>A http://identifiers.org/clinvar/361752 ^@ NM_004519.3(KCNQ3):c.*7464C>A http://identifiers.org/clinvar/302955 ^@ NG_012235.1:g.7840C>T http://identifiers.org/clinvar/302958 ^@ NG_012235.1:g.7355A>G http://identifiers.org/clinvar/361637 ^@ NM_014112.4(TRPS1):c.-188C>G http://identifiers.org/clinvar/361643 ^@ NM_014112.4(TRPS1):c.-306C>T http://identifiers.org/clinvar/366846 ^@ NM_005476.5(GNE):c.-65G>A http://identifiers.org/clinvar/302959 ^@ NG_012235.1:g.7338G>A http://identifiers.org/clinvar/302961 ^@ NG_012235.1:g.7293G>C http://identifiers.org/clinvar/361645 ^@ NM_014112.4(TRPS1):c.-320T>C http://identifiers.org/clinvar/361646 ^@ NM_014112.4(TRPS1):c.-382delA http://identifiers.org/clinvar/361648 ^@ NM_014112.4(TRPS1):c.-470T>C http://identifiers.org/clinvar/366847 ^@ NM_005476.5(GNE):c.-152G>T http://identifiers.org/clinvar/366848 ^@ NM_005476.5(GNE):c.-189C>T http://identifiers.org/clinvar/302963 ^@ NG_012235.1:g.7005C>T http://identifiers.org/clinvar/302967 ^@ NG_012235.1:g.6733C>T http://identifiers.org/clinvar/366857 ^@ NM_012203.1(GRHPR):c.601T>C (p.Ser201Pro) http://identifiers.org/clinvar/366860 ^@ NM_012203.1(GRHPR):c.812C>T (p.Thr271Met) http://identifiers.org/clinvar/366862 ^@ NM_012203.1(GRHPR):c.*24G>A http://identifiers.org/clinvar/361653 ^@ NM_000127.2(EXT1):c.1959G>A (p.Glu653=) http://identifiers.org/clinvar/302972 ^@ NG_012235.1:g.6065C>A http://identifiers.org/clinvar/302973 ^@ NG_012235.1:g.5809C>T http://identifiers.org/clinvar/366865 ^@ NM_203447.3(DOCK8):c.2428G>A (p.Ala810Thr) http://identifiers.org/clinvar/366866 ^@ NM_203447.3(DOCK8):c.2438C>T (p.Thr813Ile) http://identifiers.org/clinvar/366872 ^@ NM_016042.3(EXOSC3):c.*582A>C http://identifiers.org/clinvar/361753 ^@ NM_004519.3(KCNQ3):c.*7413G>C http://identifiers.org/clinvar/361755 ^@ NM_004519.3(KCNQ3):c.*7331A>G http://identifiers.org/clinvar/302976 ^@ NG_012235.1:g.5552C>T http://identifiers.org/clinvar/361757 ^@ NM_004519.3(KCNQ3):c.*7221C>T http://identifiers.org/clinvar/302990 ^@ NM_005422.2(TECTA):c.528T>C (p.Tyr176=) http://identifiers.org/clinvar/302991 ^@ NM_005422.2(TECTA):c.533T>G (p.Phe178Cys) http://identifiers.org/clinvar/302992 ^@ NM_005422.2(TECTA):c.588C>T (p.Gly196=) http://identifiers.org/clinvar/361655 ^@ NM_000127.2(EXT1):c.1779C>T (p.Pro593=) http://identifiers.org/clinvar/361664 ^@ NM_000127.2(EXT1):c.-113G>C http://identifiers.org/clinvar/361670 ^@ NM_000127.2(EXT1):c.-500T>G http://identifiers.org/clinvar/302996 ^@ NM_005422.2(TECTA):c.1049G>A (p.Arg350Gln) http://identifiers.org/clinvar/361758 ^@ NM_004519.3(KCNQ3):c.*7214G>A http://identifiers.org/clinvar/303003 ^@ NM_005422.2(TECTA):c.1905G>T (p.Gln635His) http://identifiers.org/clinvar/361760 ^@ NM_004519.3(KCNQ3):c.*7131G>A http://identifiers.org/clinvar/361761 ^@ NM_004519.3(KCNQ3):c.*7119C>T http://identifiers.org/clinvar/361764 ^@ NM_004519.3(KCNQ3):c.*7033T>C http://identifiers.org/clinvar/361672 ^@ NM_000127.2(EXT1):c.-536G>A http://identifiers.org/clinvar/361673 ^@ NM_000127.2(EXT1):c.-612G>A http://identifiers.org/clinvar/366873 ^@ NM_016042.3(EXOSC3):c.*574_*576delTAT http://identifiers.org/clinvar/361676 ^@ NM_000127.2(EXT1):c.-657_-652delGCCGCC http://identifiers.org/clinvar/366876 ^@ NM_016042.3(EXOSC3):c.*194G>C http://identifiers.org/clinvar/361765 ^@ NM_004519.3(KCNQ3):c.*7015G>A http://identifiers.org/clinvar/366883 ^@ NM_001042413.1(GLIS3):c.*3920G>A http://identifiers.org/clinvar/303006 ^@ NM_005422.2(TECTA):c.2367+6G>T http://identifiers.org/clinvar/303012 ^@ NM_005422.2(TECTA):c.3132A>C (p.Gln1044His) http://identifiers.org/clinvar/366887 ^@ NM_001042413.1(GLIS3):c.*3377delA http://identifiers.org/clinvar/366900 ^@ NM_001042413.1(GLIS3):c.*3012G>C http://identifiers.org/clinvar/366903 ^@ NM_001042413.1(GLIS3):c.*2927T>G http://identifiers.org/clinvar/361677 ^@ NM_000127.2(EXT1):c.-655C>A http://identifiers.org/clinvar/303022 ^@ NM_005422.2(TECTA):c.4061C>G (p.Thr1354Ser) http://identifiers.org/clinvar/361679 ^@ NM_000127.2(EXT1):c.-678C>T http://identifiers.org/clinvar/361769 ^@ NM_004519.3(KCNQ3):c.*6812A>G http://identifiers.org/clinvar/361776 ^@ NM_004519.3(KCNQ3):c.*6340G>A http://identifiers.org/clinvar/303027 ^@ NM_005422.2(TECTA):c.4720A>G (p.Ile1574Val) http://identifiers.org/clinvar/366907 ^@ NM_001042413.1(GLIS3):c.*2850C>G http://identifiers.org/clinvar/303033 ^@ NM_005422.2(TECTA):c.5496C>G (p.Ile1832Met) http://identifiers.org/clinvar/366908 ^@ NM_001042413.1(GLIS3):c.*2840dupA http://identifiers.org/clinvar/366917 ^@ NM_001042413.1(GLIS3):c.*2411A>G http://identifiers.org/clinvar/366921 ^@ NM_001042413.1(GLIS3):c.*2113G>T http://identifiers.org/clinvar/361681 ^@ NM_000127.2(EXT1):c.-731G>A http://identifiers.org/clinvar/303035 ^@ NM_005422.2(TECTA):c.5583G>T (p.Val1861=) http://identifiers.org/clinvar/361684 ^@ NM_002546.3(TNFRSF11B):c.*545T>C http://identifiers.org/clinvar/361687 ^@ NM_002546.3(TNFRSF11B):c.*67C>T http://identifiers.org/clinvar/361690 ^@ NM_002546.3(TNFRSF11B):c.700G>A (p.Ala234Thr) http://identifiers.org/clinvar/361777 ^@ NM_004519.3(KCNQ3):c.*6282A>T http://identifiers.org/clinvar/303042 ^@ NM_005422.2(TECTA):c.5913A>T (p.Thr1971=) http://identifiers.org/clinvar/303043 ^@ NM_005422.2(TECTA):c.6135C>T (p.Cys2045=) http://identifiers.org/clinvar/303046 ^@ NM_005422.2(TECTA):c.6428C>T (p.Ser2143Leu) http://identifiers.org/clinvar/361692 ^@ NM_002546.3(TNFRSF11B):c.400+15G>A http://identifiers.org/clinvar/361698 ^@ NM_002546.3(TNFRSF11B):c.-99G>A http://identifiers.org/clinvar/361779 ^@ NM_004519.3(KCNQ3):c.*6238T>C http://identifiers.org/clinvar/303047 ^@ NM_005422.2(TECTA):c.6458C>T (p.Thr2153Met) http://identifiers.org/clinvar/366927 ^@ NM_203447.3(DOCK8):c.2739C>T (p.Ser913=) http://identifiers.org/clinvar/303048 ^@ NM_006918.4(SC5D):c.-127T>G http://identifiers.org/clinvar/303052 ^@ NM_006918.4(SC5D):c.343+3A>G http://identifiers.org/clinvar/361699 ^@ NM_002546.3(TNFRSF11B):c.-191C>G http://identifiers.org/clinvar/303054 ^@ NM_006918.4(SC5D):c.444+11T>C http://identifiers.org/clinvar/303056 ^@ NM_006918.4(SC5D):c.753C>T (p.Gly251=) http://identifiers.org/clinvar/361708 ^@ NM_014846.3(WASHC5):c.*78A>G http://identifiers.org/clinvar/361710 ^@ NM_014846.3(WASHC5):c.3438T>C (p.His1146=) http://identifiers.org/clinvar/361716 ^@ NM_014846.3(WASHC5):c.2199+4C>A http://identifiers.org/clinvar/366932 ^@ NM_001042413.1(GLIS3):c.*1686T>A http://identifiers.org/clinvar/361720 ^@ NM_014846.3(WASHC5):c.2017-13T>C http://identifiers.org/clinvar/366936 ^@ NM_001042413.1(GLIS3):c.*1416G>T http://identifiers.org/clinvar/361793 ^@ NM_004519.3(KCNQ3):c.*5466T>A http://identifiers.org/clinvar/366942 ^@ NM_001042413.1(GLIS3):c.*963T>C http://identifiers.org/clinvar/361721 ^@ NM_014846.3(WASHC5):c.1764+12A>G http://identifiers.org/clinvar/366947 ^@ NM_001042413.1(GLIS3):c.*663_*664dupAA http://identifiers.org/clinvar/366948 ^@ NM_001042413.1(GLIS3):c.*572T>C http://identifiers.org/clinvar/361723 ^@ NM_014846.3(WASHC5):c.1345C>A (p.Arg449=) http://identifiers.org/clinvar/303057 ^@ NM_006918.4(SC5D):c.*81A>C http://identifiers.org/clinvar/361726 ^@ NM_014846.3(WASHC5):c.1187A>G (p.Lys396Arg) http://identifiers.org/clinvar/303061 ^@ NM_006918.4(SC5D):c.*512G>A http://identifiers.org/clinvar/303062 ^@ NM_006918.4(SC5D):c.*598T>C http://identifiers.org/clinvar/361794 ^@ NM_004519.3(KCNQ3):c.*5391C>T http://identifiers.org/clinvar/303063 ^@ NM_006918.4(SC5D):c.*981C>T http://identifiers.org/clinvar/303064 ^@ NM_006918.4(SC5D):c.*1012T>C http://identifiers.org/clinvar/303066 ^@ NM_006918.4(SC5D):c.*1195A>G http://identifiers.org/clinvar/361728 ^@ NM_014846.3(WASHC5):c.1029A>G (p.Gln343=) http://identifiers.org/clinvar/361731 ^@ NM_014846.3(WASHC5):c.636C>T (p.Phe212=) http://identifiers.org/clinvar/361732 ^@ NM_014846.3(WASHC5):c.555T>C (p.Asp185=) http://identifiers.org/clinvar/303075 ^@ NM_006918.4(SC5D):c.*1876G>T http://identifiers.org/clinvar/303079 ^@ NM_006918.4(SC5D):c.*2477C>G http://identifiers.org/clinvar/361795 ^@ NM_004519.3(KCNQ3):c.*5255T>C http://identifiers.org/clinvar/361798 ^@ NM_004519.3(KCNQ3):c.*4982A>T http://identifiers.org/clinvar/361799 ^@ NM_004519.3(KCNQ3):c.*4958A>G http://identifiers.org/clinvar/366952 ^@ NM_001042413.1(GLIS3):c.2745C>T (p.Thr915=) http://identifiers.org/clinvar/361733 ^@ NM_014846.3(WASHC5):c.405A>G (p.Gly135=) http://identifiers.org/clinvar/361803 ^@ NM_004519.3(KCNQ3):c.*4736G>A http://identifiers.org/clinvar/361804 ^@ NM_004519.3(KCNQ3):c.*4551T>C http://identifiers.org/clinvar/303083 ^@ NM_006918.4(SC5D):c.*2662G>A http://identifiers.org/clinvar/366955 ^@ NM_203447.3(DOCK8):c.2862A>T (p.Pro954=) http://identifiers.org/clinvar/303085 ^@ NM_006918.4(SC5D):c.*2943C>T http://identifiers.org/clinvar/361740 ^@ NM_014846.3(WASHC5):c.-178T>C http://identifiers.org/clinvar/361742 ^@ NM_014846.3(WASHC5):c.-241G>A http://identifiers.org/clinvar/361746 ^@ NM_004519.3(KCNQ3):c.*7980dupT http://identifiers.org/clinvar/303088 ^@ NM_006918.4(SC5D):c.*2986C>T http://identifiers.org/clinvar/303092 ^@ NM_006918.4(SC5D):c.*3200G>A http://identifiers.org/clinvar/366962 ^@ NM_001042413.1(GLIS3):c.1881T>C (p.Tyr627=) http://identifiers.org/clinvar/366963 ^@ NM_001042413.1(GLIS3):c.1723G>A (p.Glu575Lys) http://identifiers.org/clinvar/361762 ^@ NM_004519.3(KCNQ3):c.*7095T>G http://identifiers.org/clinvar/303095 ^@ NM_006918.4(SC5D):c.*3345C>T http://identifiers.org/clinvar/361768 ^@ NM_004519.3(KCNQ3):c.*6831G>A http://identifiers.org/clinvar/361771 ^@ NM_004519.3(KCNQ3):c.*6607A>G http://identifiers.org/clinvar/361805 ^@ NM_004519.3(KCNQ3):c.*4481C>A http://identifiers.org/clinvar/361778 ^@ NM_004519.3(KCNQ3):c.*6267T>C http://identifiers.org/clinvar/303112 ^@ NM_006918.4(SC5D):c.*5224A>G http://identifiers.org/clinvar/303115 ^@ NM_006918.4(SC5D):c.*5282C>T http://identifiers.org/clinvar/361789 ^@ NM_004519.3(KCNQ3):c.*5580G>A http://identifiers.org/clinvar/361806 ^@ NM_004519.3(KCNQ3):c.*4479C>T http://identifiers.org/clinvar/361807 ^@ NM_004519.3(KCNQ3):c.*4316delC http://identifiers.org/clinvar/366965 ^@ NM_203447.3(DOCK8):c.3067A>G (p.Ile1023Val) http://identifiers.org/clinvar/361811 ^@ NM_004519.3(KCNQ3):c.*4043C>T http://identifiers.org/clinvar/361810 ^@ NM_004519.3(KCNQ3):c.*4125T>C http://identifiers.org/clinvar/361817 ^@ NM_004519.3(KCNQ3):c.*3823G>A http://identifiers.org/clinvar/361812 ^@ NM_004519.3(KCNQ3):c.*4027G>A http://identifiers.org/clinvar/303118 ^@ NM_006918.4(SC5D):c.*5329G>C http://identifiers.org/clinvar/361814 ^@ NM_004519.3(KCNQ3):c.*3977G>A http://identifiers.org/clinvar/366967 ^@ NM_203447.3(DOCK8):c.3193C>T (p.Arg1065Trp) http://identifiers.org/clinvar/361823 ^@ NM_004519.3(KCNQ3):c.*3597G>A http://identifiers.org/clinvar/303121 ^@ NM_006918.4(SC5D):c.*5630C>T http://identifiers.org/clinvar/303122 ^@ NM_006918.4(SC5D):c.*5640T>C http://identifiers.org/clinvar/361828 ^@ NM_004519.3(KCNQ3):c.*3262G>A http://identifiers.org/clinvar/361819 ^@ NM_004519.3(KCNQ3):c.*3731G>T http://identifiers.org/clinvar/366977 ^@ NM_001042413.1(GLIS3):c.1526C>T (p.Ala509Val) http://identifiers.org/clinvar/366991 ^@ NM_001042413.1(GLIS3):c.638G>A (p.Ser213Asn) http://identifiers.org/clinvar/366992 ^@ NM_001042413.1(GLIS3):c.496C>G (p.Pro166Ala) http://identifiers.org/clinvar/366999 ^@ NM_001042413.1(GLIS3):c.141G>A (p.Ser47=) http://identifiers.org/clinvar/367001 ^@ NM_001042413.1(GLIS3):c.105C>T (p.Ser35=) http://identifiers.org/clinvar/361821 ^@ NM_004519.3(KCNQ3):c.*3692T>C http://identifiers.org/clinvar/367009 ^@ NM_001042413.1(GLIS3):c.-165C>T http://identifiers.org/clinvar/303123 ^@ NM_006918.4(SC5D):c.*5742T>C http://identifiers.org/clinvar/367011 ^@ NM_001042413.1(GLIS3):c.-270C>A http://identifiers.org/clinvar/361824 ^@ NM_004519.3(KCNQ3):c.*3591T>C http://identifiers.org/clinvar/361826 ^@ NM_004519.3(KCNQ3):c.*3303C>A http://identifiers.org/clinvar/367014 ^@ NM_001042413.1(GLIS3):c.-514G>A http://identifiers.org/clinvar/361829 ^@ NM_004519.3(KCNQ3):c.*3261C>T http://identifiers.org/clinvar/367019 ^@ NM_001042413.1(GLIS3):c.-636C>T http://identifiers.org/clinvar/361835 ^@ NM_004519.3(KCNQ3):c.*2921T>C http://identifiers.org/clinvar/361837 ^@ NM_004519.3(KCNQ3):c.*2847T>C http://identifiers.org/clinvar/361843 ^@ NM_004519.3(KCNQ3):c.*2137C>T http://identifiers.org/clinvar/361832 ^@ NM_004519.3(KCNQ3):c.*3165G>T http://identifiers.org/clinvar/361848 ^@ NM_004519.3(KCNQ3):c.*1676T>C http://identifiers.org/clinvar/361855 ^@ NM_004519.3(KCNQ3):c.*1066A>G http://identifiers.org/clinvar/367032 ^@ NM_004170.5(SLC1A1):c.-86G>C http://identifiers.org/clinvar/367036 ^@ NM_004170.5(SLC1A1):c.120A>G (p.Glu40=) http://identifiers.org/clinvar/361857 ^@ NM_004519.3(KCNQ3):c.*828T>C http://identifiers.org/clinvar/361859 ^@ NM_004519.3(KCNQ3):c.*755_*760delTACACA http://identifiers.org/clinvar/303125 ^@ NM_018400.3(SCN3B):c.*4588T>C http://identifiers.org/clinvar/303128 ^@ NM_018400.3(SCN3B):c.*4523A>G http://identifiers.org/clinvar/361860 ^@ NM_004519.3(KCNQ3):c.*755_*758delTACA http://identifiers.org/clinvar/361872 ^@ NM_004519.3(KCNQ3):c.2274G>A (p.Val758=) http://identifiers.org/clinvar/361834 ^@ NM_004519.3(KCNQ3):c.*3032A>G http://identifiers.org/clinvar/303130 ^@ NM_018400.3(SCN3B):c.*4395G>A http://identifiers.org/clinvar/361836 ^@ NM_004519.3(KCNQ3):c.*2876C>G http://identifiers.org/clinvar/303134 ^@ NM_018400.3(SCN3B):c.*4334C>T http://identifiers.org/clinvar/367040 ^@ NM_004170.5(SLC1A1):c.232+14A>T http://identifiers.org/clinvar/367052 ^@ NM_004170.5(SLC1A1):c.1110T>C (p.Thr370=) http://identifiers.org/clinvar/367062 ^@ NM_004170.5(SLC1A1):c.*2G>A http://identifiers.org/clinvar/367063 ^@ NM_004170.5(SLC1A1):c.*43C>T http://identifiers.org/clinvar/303137 ^@ NM_018400.3(SCN3B):c.*3973_*3976delCAAA http://identifiers.org/clinvar/367064 ^@ NM_004170.5(SLC1A1):c.*111G>T http://identifiers.org/clinvar/303141 ^@ NM_018400.3(SCN3B):c.*3306G>A http://identifiers.org/clinvar/303145 ^@ NM_018400.3(SCN3B):c.*3060G>T http://identifiers.org/clinvar/367065 ^@ NM_004170.5(SLC1A1):c.*161G>A http://identifiers.org/clinvar/303150 ^@ NM_018400.3(SCN3B):c.*2561C>T http://identifiers.org/clinvar/303154 ^@ NM_018400.3(SCN3B):c.*2366G>A http://identifiers.org/clinvar/303156 ^@ NM_018400.3(SCN3B):c.*2242C>T http://identifiers.org/clinvar/361877 ^@ NM_004519.3(KCNQ3):c.1809A>G (p.Pro603=) http://identifiers.org/clinvar/361879 ^@ NM_004519.3(KCNQ3):c.1700+3G>A http://identifiers.org/clinvar/367066 ^@ NM_004170.5(SLC1A1):c.*355A>T http://identifiers.org/clinvar/367070 ^@ NM_004170.5(SLC1A1):c.*614T>C http://identifiers.org/clinvar/361883 ^@ NM_004519.3(KCNQ3):c.132G>C (p.Gly44=) http://identifiers.org/clinvar/361840 ^@ NM_004519.3(KCNQ3):c.*2271T>A http://identifiers.org/clinvar/361846 ^@ NM_004519.3(KCNQ3):c.*1754C>T http://identifiers.org/clinvar/361884 ^@ NM_004519.3(KCNQ3):c.-54C>G http://identifiers.org/clinvar/303163 ^@ NM_018400.3(SCN3B):c.*1856A>G http://identifiers.org/clinvar/361887 ^@ NM_004519.3(KCNQ3):c.-130_-129dupGG http://identifiers.org/clinvar/361849 ^@ NM_004519.3(KCNQ3):c.*1582C>T http://identifiers.org/clinvar/303164 ^@ NM_018400.3(SCN3B):c.*1808G>A http://identifiers.org/clinvar/303171 ^@ NM_018400.3(SCN3B):c.*1318G>A http://identifiers.org/clinvar/367071 ^@ NM_004170.5(SLC1A1):c.*629C>T http://identifiers.org/clinvar/367075 ^@ NM_004170.5(SLC1A1):c.*719T>A http://identifiers.org/clinvar/367085 ^@ NM_004170.5(SLC1A1):c.*1344T>G http://identifiers.org/clinvar/361853 ^@ NM_004519.3(KCNQ3):c.*1383C>T http://identifiers.org/clinvar/367087 ^@ NM_004170.5(SLC1A1):c.*1374T>C http://identifiers.org/clinvar/303172 ^@ NM_018400.3(SCN3B):c.*1290G>A http://identifiers.org/clinvar/303173 ^@ NM_018400.3(SCN3B):c.*1289C>T http://identifiers.org/clinvar/367088 ^@ NM_004170.5(SLC1A1):c.*1485A>G http://identifiers.org/clinvar/303175 ^@ NM_018400.3(SCN3B):c.*1232G>A http://identifiers.org/clinvar/303179 ^@ NM_018400.3(SCN3B):c.*930A>G http://identifiers.org/clinvar/303189 ^@ NM_018400.3(SCN3B):c.*131T>A http://identifiers.org/clinvar/361854 ^@ NM_004519.3(KCNQ3):c.*1159G>A http://identifiers.org/clinvar/361865 ^@ NM_004519.3(KCNQ3):c.*751_*754dupCACA http://identifiers.org/clinvar/367093 ^@ NM_004170.5(SLC1A1):c.*1621T>G http://identifiers.org/clinvar/303191 ^@ NM_018400.3(SCN3B):c.*103C>T http://identifiers.org/clinvar/303192 ^@ NM_018400.3(SCN3B):c.93G>A (p.Ser31=) http://identifiers.org/clinvar/367095 ^@ NM_203447.3(DOCK8):c.*99G>A http://identifiers.org/clinvar/367098 ^@ NM_203447.3(DOCK8):c.*258T>C http://identifiers.org/clinvar/361888 ^@ NM_004519.3(KCNQ3):c.-134dupG http://identifiers.org/clinvar/303205 ^@ NM_018400.3(SCN3B):c.-364G>A http://identifiers.org/clinvar/361867 ^@ NM_004519.3(KCNQ3):c.*732A>G http://identifiers.org/clinvar/361868 ^@ NM_004519.3(KCNQ3):c.*716_*717insAACA http://identifiers.org/clinvar/361870 ^@ NM_004519.3(KCNQ3):c.*425C>A http://identifiers.org/clinvar/361891 ^@ NM_004519.3(KCNQ3):c.-138delT http://identifiers.org/clinvar/303208 ^@ NM_018400.3(SCN3B):c.-461delT http://identifiers.org/clinvar/361873 ^@ NM_004519.3(KCNQ3):c.2262C>T (p.Leu754=) http://identifiers.org/clinvar/361874 ^@ NM_004519.3(KCNQ3):c.2165G>A (p.Arg722Gln) http://identifiers.org/clinvar/303214 ^@ NM_018400.3(SCN3B):c.-736G>C http://identifiers.org/clinvar/303218 ^@ NM_022370.3(ROBO3):c.43T>C (p.Phe15Leu) http://identifiers.org/clinvar/303222 ^@ NM_022370.3(ROBO3):c.488-14A>C http://identifiers.org/clinvar/361896 ^@ NM_004519.3(KCNQ3):c.-140_-139insTG http://identifiers.org/clinvar/361894 ^@ NM_004519.3(KCNQ3):c.-141_-139dupGGG http://identifiers.org/clinvar/367099 ^@ NM_203447.3(DOCK8):c.*366C>T http://identifiers.org/clinvar/303224 ^@ NM_022370.3(ROBO3):c.592G>A (p.Val198Met) http://identifiers.org/clinvar/367100 ^@ NM_203447.3(DOCK8):c.*407C>T http://identifiers.org/clinvar/367106 ^@ NM_203447.3(DOCK8):c.*867C>T http://identifiers.org/clinvar/303225 ^@ NM_022370.3(ROBO3):c.637A>C (p.Arg213=) http://identifiers.org/clinvar/303227 ^@ NM_022370.3(ROBO3):c.726G>C (p.Ala242=) http://identifiers.org/clinvar/303228 ^@ NM_022370.3(ROBO3):c.764T>C (p.Leu255Pro) http://identifiers.org/clinvar/361875 ^@ NM_004519.3(KCNQ3):c.1995G>T (p.Ser665=) http://identifiers.org/clinvar/361885 ^@ NM_004519.3(KCNQ3):c.-65C>T http://identifiers.org/clinvar/361895 ^@ NM_004519.3(KCNQ3):c.-138T>G http://identifiers.org/clinvar/367111 ^@ NM_004972.3(JAK2):c.-445C>T http://identifiers.org/clinvar/367115 ^@ NM_004972.3(JAK2):c.-181A>G http://identifiers.org/clinvar/303230 ^@ NM_022370.3(ROBO3):c.850G>A (p.Asp284Asn) http://identifiers.org/clinvar/367120 ^@ NM_004972.3(JAK2):c.143G>A (p.Gly48Glu) http://identifiers.org/clinvar/367130 ^@ NM_004972.3(JAK2):c.2586T>C (p.Ser862=) http://identifiers.org/clinvar/303231 ^@ NM_022370.3(ROBO3):c.968C>T (p.Thr323Met) http://identifiers.org/clinvar/367131 ^@ NM_004972.3(JAK2):c.2762-10_2762-9delAT http://identifiers.org/clinvar/367132 ^@ NM_004972.3(JAK2):c.2931G>A (p.Leu977=) http://identifiers.org/clinvar/367139 ^@ NM_004972.3(JAK2):c.*94_*96delTAT http://identifiers.org/clinvar/361892 ^@ NM_004519.3(KCNQ3):c.-139dupG http://identifiers.org/clinvar/303233 ^@ NM_022370.3(ROBO3):c.1104C>T (p.Cys368=) http://identifiers.org/clinvar/361897 ^@ NM_004519.3(KCNQ3):c.-142G>T http://identifiers.org/clinvar/361900 ^@ NM_012472.5(LRRC6):c.1300G>A (p.Glu434Lys) http://identifiers.org/clinvar/361898 ^@ NM_004519.3(KCNQ3):c.-148_-147insTG http://identifiers.org/clinvar/361903 ^@ NM_012472.5(LRRC6):c.974+14C>A http://identifiers.org/clinvar/361908 ^@ NM_003235.4(TG):c.379G>A (p.Ala127Thr) http://identifiers.org/clinvar/361901 ^@ NM_012472.5(LRRC6):c.1178A>G (p.Lys393Arg) http://identifiers.org/clinvar/361904 ^@ NM_012472.5(LRRC6):c.611C>T (p.Ala204Val) http://identifiers.org/clinvar/367142 ^@ NM_004972.3(JAK2):c.*317A>G http://identifiers.org/clinvar/367145 ^@ NM_004972.3(JAK2):c.*1117T>C http://identifiers.org/clinvar/367146 ^@ NM_004972.3(JAK2):c.*1118T>C http://identifiers.org/clinvar/303235 ^@ NM_022370.3(ROBO3):c.1247G>A (p.Arg416His) http://identifiers.org/clinvar/303239 ^@ NM_022370.3(ROBO3):c.1515C>T (p.Thr505=) http://identifiers.org/clinvar/367148 ^@ NM_004972.3(JAK2):c.*1145G>A http://identifiers.org/clinvar/367152 ^@ NM_004972.3(JAK2):c.*1289T>G http://identifiers.org/clinvar/367156 ^@ NM_004972.3(JAK2):c.*1325_*1330delGTGTGT http://identifiers.org/clinvar/361913 ^@ NM_003235.4(TG):c.1269C>T (p.Arg423=) http://identifiers.org/clinvar/361914 ^@ NM_003235.4(TG):c.1532A>G (p.Asn511Ser) http://identifiers.org/clinvar/361909 ^@ NM_003235.4(TG):c.554C>T (p.Ala185Val) http://identifiers.org/clinvar/303240 ^@ NM_022370.3(ROBO3):c.1542G>A (p.Met514Ile) http://identifiers.org/clinvar/361919 ^@ NM_003235.4(TG):c.1890A>G (p.Gln630=) http://identifiers.org/clinvar/303243 ^@ NM_022370.3(ROBO3):c.1720C>T (p.Leu574=) http://identifiers.org/clinvar/361923 ^@ NM_003235.4(TG):c.2330C>T (p.Pro777Leu) http://identifiers.org/clinvar/361910 ^@ NM_003235.4(TG):c.698G>A (p.Gly233Glu) http://identifiers.org/clinvar/361926 ^@ NM_003235.4(TG):c.2560C>T (p.Arg854Trp) http://identifiers.org/clinvar/361911 ^@ NM_003235.4(TG):c.1075+8T>G http://identifiers.org/clinvar/361912 ^@ NM_003235.4(TG):c.1233G>A (p.Thr411=) http://identifiers.org/clinvar/361927 ^@ NM_003235.4(TG):c.2686C>T (p.Arg896Trp) http://identifiers.org/clinvar/303264 ^@ NM_022370.3(ROBO3):c.3091A>C (p.Thr1031Pro) http://identifiers.org/clinvar/303267 ^@ NM_022370.3(ROBO3):c.3184G>A (p.Ala1062Thr) http://identifiers.org/clinvar/303270 ^@ NM_022370.3(ROBO3):c.3567T>C (p.Ser1189=) http://identifiers.org/clinvar/361937 ^@ NM_003235.4(TG):c.3057C>T (p.Ser1019=) http://identifiers.org/clinvar/303272 ^@ NM_022370.3(ROBO3):c.3706G>A (p.Gly1236Arg) http://identifiers.org/clinvar/303281 ^@ NM_022370.3(ROBO3):c.4116C>A (p.Ser1372Arg) http://identifiers.org/clinvar/361928 ^@ NM_003235.4(TG):c.2709G>C (p.Glu903Asp) http://identifiers.org/clinvar/303284 ^@ NM_022370.3(ROBO3):c.*67C>T http://identifiers.org/clinvar/303289 ^@ NM_152722.4(HEPACAM):c.*1798_*1801dupGTTT http://identifiers.org/clinvar/303293 ^@ NM_152722.4(HEPACAM):c.*1451delC http://identifiers.org/clinvar/303297 ^@ NM_152722.4(HEPACAM):c.*1206T>A http://identifiers.org/clinvar/367155 ^@ NM_004972.3(JAK2):c.*1327_*1330delGTGT http://identifiers.org/clinvar/367159 ^@ NM_004972.3(JAK2):c.*1388_*1389insTTTAC http://identifiers.org/clinvar/367173 ^@ NM_000170.2(GLDC):c.2919+3A>G http://identifiers.org/clinvar/303301 ^@ NM_152722.4(HEPACAM):c.*862C>A http://identifiers.org/clinvar/367174 ^@ NM_000170.2(GLDC):c.2919C>T (p.Leu973=) http://identifiers.org/clinvar/367176 ^@ NM_000170.2(GLDC):c.2730G>A (p.Ser910=) http://identifiers.org/clinvar/303303 ^@ NM_152722.4(HEPACAM):c.*472T>G http://identifiers.org/clinvar/303306 ^@ NM_152722.4(HEPACAM):c.*460G>T http://identifiers.org/clinvar/303304 ^@ NM_152722.4(HEPACAM):c.*457_*460delTTTG http://identifiers.org/clinvar/361941 ^@ NM_003235.4(TG):c.3187C>A (p.Leu1063Met) http://identifiers.org/clinvar/303305 ^@ NM_152722.4(HEPACAM):c.*456_*460delTTTTG http://identifiers.org/clinvar/367180 ^@ NM_000170.2(GLDC):c.2518A>G (p.Met840Val) http://identifiers.org/clinvar/303313 ^@ NM_152722.4(HEPACAM):c.*338C>A http://identifiers.org/clinvar/361930 ^@ NM_003235.4(TG):c.2761+2T>G http://identifiers.org/clinvar/361933 ^@ NM_003235.4(TG):c.2963G>C (p.Arg988Pro) http://identifiers.org/clinvar/361942 ^@ NM_003235.4(TG):c.3217+11A>C http://identifiers.org/clinvar/361940 ^@ NM_003235.4(TG):c.3171G>C (p.Gly1057=) http://identifiers.org/clinvar/361960 ^@ NM_003235.4(TG):c.4379-13T>G http://identifiers.org/clinvar/361944 ^@ NM_003235.4(TG):c.3241C>G (p.Arg1081Gly) http://identifiers.org/clinvar/361967 ^@ NM_003235.4(TG):c.4862C>A (p.Thr1621Lys) http://identifiers.org/clinvar/361970 ^@ NM_003235.4(TG):c.5122A>G (p.Ile1708Val) http://identifiers.org/clinvar/303318 ^@ NM_152722.4(HEPACAM):c.*116G>A http://identifiers.org/clinvar/303322 ^@ NM_152722.4(HEPACAM):c.*105G>A http://identifiers.org/clinvar/361972 ^@ NM_003235.4(TG):c.5188C>T (p.Arg1730Cys) http://identifiers.org/clinvar/303328 ^@ NM_152722.4(HEPACAM):c.851A>G (p.Gln284Arg) http://identifiers.org/clinvar/361974 ^@ NM_003235.4(TG):c.5370A>G (p.Ile1790Met) http://identifiers.org/clinvar/361977 ^@ NM_003235.4(TG):c.5549-9C>A http://identifiers.org/clinvar/361982 ^@ NM_003235.4(TG):c.5984A>G (p.Glu1995Gly) http://identifiers.org/clinvar/361983 ^@ NM_003235.4(TG):c.6181G>A (p.Gly2061Arg) http://identifiers.org/clinvar/361986 ^@ NM_003235.4(TG):c.6646A>G (p.Ile2216Val) http://identifiers.org/clinvar/303335 ^@ NM_152722.4(HEPACAM):c.258G>A (p.Glu86=) http://identifiers.org/clinvar/303337 ^@ NM_152722.4(HEPACAM):c.217C>G (p.Arg73Gly) http://identifiers.org/clinvar/303340 ^@ NM_152722.4(HEPACAM):c.8G>C (p.Arg3Thr) http://identifiers.org/clinvar/361946 ^@ NM_003235.4(TG):c.3583G>A (p.Gly1195Arg) http://identifiers.org/clinvar/361948 ^@ NM_003235.4(TG):c.3749G>T (p.Arg1250Leu) http://identifiers.org/clinvar/367184 ^@ NM_000170.2(GLDC):c.1927-9A>G http://identifiers.org/clinvar/303341 ^@ NM_152722.4(HEPACAM):c.-28G>A http://identifiers.org/clinvar/303351 ^@ NM_145014.2(HYLS1):c.-121_-120dupTT http://identifiers.org/clinvar/367187 ^@ NM_000170.2(GLDC):c.1626A>G (p.Glu542=) http://identifiers.org/clinvar/367193 ^@ NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) http://identifiers.org/clinvar/361987 ^@ NM_003235.4(TG):c.6819G>A (p.Thr2273=) http://identifiers.org/clinvar/303358 ^@ NM_145014.2(HYLS1):c.-81+11dupG http://identifiers.org/clinvar/303363 ^@ NM_145014.2(HYLS1):c.91T>C (p.Cys31Arg) http://identifiers.org/clinvar/361989 ^@ NM_003235.4(TG):c.6952G>A (p.Asp2318Asn) http://identifiers.org/clinvar/303366 ^@ NM_145014.2(HYLS1):c.*76C>T http://identifiers.org/clinvar/367194 ^@ NM_000170.2(GLDC):c.1357G>T (p.Ala453Ser) http://identifiers.org/clinvar/367195 ^@ NM_000170.2(GLDC):c.1156-7C>G http://identifiers.org/clinvar/303369 ^@ NM_145014.2(HYLS1):c.*293C>T http://identifiers.org/clinvar/303370 ^@ NM_145014.2(HYLS1):c.*329T>G http://identifiers.org/clinvar/361990 ^@ NM_003235.4(TG):c.7112G>A (p.Arg2371Gln) http://identifiers.org/clinvar/303377 ^@ NM_016952.4(CDON):c.*3916G>A http://identifiers.org/clinvar/361994 ^@ NM_003235.4(TG):c.7539C>T (p.Asp2513=) http://identifiers.org/clinvar/361997 ^@ NM_003235.4(TG):c.7578T>A (p.Phe2526Leu) http://identifiers.org/clinvar/362007 ^@ NM_006096.3(NDRG1):c.*1706G>A http://identifiers.org/clinvar/361949 ^@ NM_003235.4(TG):c.3776C>T (p.Pro1259Leu) http://identifiers.org/clinvar/303378 ^@ NM_016952.4(CDON):c.*3884T>G http://identifiers.org/clinvar/361955 ^@ NM_003235.4(TG):c.3982C>T (p.Arg1328Cys) http://identifiers.org/clinvar/303381 ^@ NM_016952.4(CDON):c.*3765C>T http://identifiers.org/clinvar/303384 ^@ NM_016952.4(CDON):c.*3522_*3523delCT http://identifiers.org/clinvar/303389 ^@ NM_016952.4(CDON):c.*3221A>G http://identifiers.org/clinvar/367196 ^@ NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) http://identifiers.org/clinvar/367197 ^@ NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) http://identifiers.org/clinvar/362009 ^@ NM_006096.3(NDRG1):c.*1473G>A http://identifiers.org/clinvar/303394 ^@ NM_016952.4(CDON):c.*3104T>C http://identifiers.org/clinvar/362012 ^@ NM_006096.3(NDRG1):c.*1294T>C http://identifiers.org/clinvar/303399 ^@ NM_016952.4(CDON):c.*2749C>G http://identifiers.org/clinvar/361956 ^@ NM_003235.4(TG):c.4023G>T (p.Leu1341=) http://identifiers.org/clinvar/367198 ^@ NM_000170.2(GLDC):c.701A>G (p.Gln234Arg) http://identifiers.org/clinvar/303400 ^@ NM_016952.4(CDON):c.*2740T>C http://identifiers.org/clinvar/303409 ^@ NM_016952.4(CDON):c.*2389_*2394dupTATATA http://identifiers.org/clinvar/367199 ^@ NM_000170.2(GLDC):c.698T>C (p.Val233Ala) http://identifiers.org/clinvar/303417 ^@ NM_016952.4(CDON):c.*2377_*2379delTATinsCACACACACACACAC http://identifiers.org/clinvar/303437 ^@ NM_016952.4(CDON):c.*2377T>C http://identifiers.org/clinvar/303426 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACATATATA http://identifiers.org/clinvar/362015 ^@ NM_006096.3(NDRG1):c.*956T>C http://identifiers.org/clinvar/362026 ^@ NM_006096.3(NDRG1):c.*201A>T http://identifiers.org/clinvar/367200 ^@ NM_000170.2(GLDC):c.671G>A (p.Arg224His) http://identifiers.org/clinvar/303414 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACACATATA http://identifiers.org/clinvar/303432 ^@ NM_016952.4(CDON):c.*2376_*2377insCACATA http://identifiers.org/clinvar/367201 ^@ NM_000170.2(GLDC):c.666T>C (p.Asp222=) http://identifiers.org/clinvar/303434 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACACACATA http://identifiers.org/clinvar/303422 ^@ NM_016952.4(CDON):c.*2375_*2376dupCA http://identifiers.org/clinvar/303447 ^@ NM_016952.4(CDON):c.*2101A>G http://identifiers.org/clinvar/362032 ^@ NM_006096.3(NDRG1):c.894G>A (p.Pro298=) http://identifiers.org/clinvar/361965 ^@ NM_003235.4(TG):c.4713T>C (p.Phe1571=) http://identifiers.org/clinvar/303448 ^@ NM_016952.4(CDON):c.*2097G>A http://identifiers.org/clinvar/303449 ^@ NM_016952.4(CDON):c.*2003C>G http://identifiers.org/clinvar/367202 ^@ NM_000170.2(GLDC):c.660C>T (p.Leu220=) http://identifiers.org/clinvar/362045 ^@ NM_006096.3(NDRG1):c.-120C>T http://identifiers.org/clinvar/303467 ^@ NM_016952.4(CDON):c.*1307T>G http://identifiers.org/clinvar/303469 ^@ NM_016952.4(CDON):c.*1211A>G http://identifiers.org/clinvar/361969 ^@ NM_003235.4(TG):c.5119C>T (p.Pro1707Ser) http://identifiers.org/clinvar/361971 ^@ NM_003235.4(TG):c.5186A>C (p.Asp1729Ala) http://identifiers.org/clinvar/362048 ^@ NM_006096.3(NDRG1):c.-157C>T http://identifiers.org/clinvar/303473 ^@ NM_016952.4(CDON):c.*983A>G http://identifiers.org/clinvar/362049 ^@ NM_006096.3(NDRG1):c.-173G>A http://identifiers.org/clinvar/362051 ^@ NM_031466.7(TRAPPC9):c.*576G>A http://identifiers.org/clinvar/361975 ^@ NM_003235.4(TG):c.5386C>T (p.Gln1796Ter) http://identifiers.org/clinvar/362058 ^@ NM_031466.7(TRAPPC9):c.*80G>C http://identifiers.org/clinvar/361979 ^@ NM_003235.4(TG):c.5862A>G (p.Lys1954=) http://identifiers.org/clinvar/303479 ^@ NM_016952.4(CDON):c.*863C>T http://identifiers.org/clinvar/303494 ^@ NM_016952.4(CDON):c.3190A>G (p.Ser1064Gly) http://identifiers.org/clinvar/362060 ^@ NM_031466.7(TRAPPC9):c.3708T>G (p.Ser1236Arg) http://identifiers.org/clinvar/362083 ^@ NM_031466.7(TRAPPC9):c.1854C>T (p.Pro618=) http://identifiers.org/clinvar/303499 ^@ NM_016952.4(CDON):c.2392A>G (p.Ile798Val) http://identifiers.org/clinvar/303505 ^@ NM_016952.4(CDON):c.2026+15C>T http://identifiers.org/clinvar/303516 ^@ NM_016952.4(CDON):c.1603G>A (p.Ala535Thr) http://identifiers.org/clinvar/361991 ^@ NM_003235.4(TG):c.7162G>A (p.Gly2388Arg) http://identifiers.org/clinvar/361998 ^@ NM_003235.4(TG):c.7640T>A (p.Leu2547Gln) http://identifiers.org/clinvar/362000 ^@ NM_003235.4(TG):c.7737T>C (p.Ala2579=) http://identifiers.org/clinvar/362003 ^@ NM_003235.4(TG):c.7921G>C (p.Glu2641Gln) http://identifiers.org/clinvar/362008 ^@ NM_006096.3(NDRG1):c.*1622T>G http://identifiers.org/clinvar/362090 ^@ NM_031466.7(TRAPPC9):c.971_977dupACCACAT (p.Met326Ilefs) http://identifiers.org/clinvar/362011 ^@ NM_006096.3(NDRG1):c.*1296C>T http://identifiers.org/clinvar/362013 ^@ NM_006096.3(NDRG1):c.*1195G>T http://identifiers.org/clinvar/303518 ^@ NM_016952.4(CDON):c.1500C>T (p.Cys500=) http://identifiers.org/clinvar/303521 ^@ NM_016952.4(CDON):c.1000G>C (p.Asp334His) http://identifiers.org/clinvar/303527 ^@ NM_016952.4(CDON):c.-51A>C http://identifiers.org/clinvar/303532 ^@ NM_017547.3(FOXRED1):c.-2T>C http://identifiers.org/clinvar/362014 ^@ NM_006096.3(NDRG1):c.*1135G>A http://identifiers.org/clinvar/303535 ^@ NM_017547.3(FOXRED1):c.296G>A (p.Arg99Gln) http://identifiers.org/clinvar/303540 ^@ NM_017547.3(FOXRED1):c.857T>C (p.Ile286Thr) http://identifiers.org/clinvar/303541 ^@ NM_017547.3(FOXRED1):c.887C>T (p.Ala296Val) http://identifiers.org/clinvar/367204 ^@ NM_000170.2(GLDC):c.438G>A (p.Thr146=) http://identifiers.org/clinvar/303546 ^@ NM_017547.3(FOXRED1):c.*85T>C http://identifiers.org/clinvar/303547 ^@ NM_017547.3(FOXRED1):c.*113G>A http://identifiers.org/clinvar/362092 ^@ NM_031466.7(TRAPPC9):c.789C>G (p.Asp263Glu) http://identifiers.org/clinvar/362018 ^@ NM_006096.3(NDRG1):c.*711C>T http://identifiers.org/clinvar/367208 ^@ NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) http://identifiers.org/clinvar/367209 ^@ NM_000170.2(GLDC):c.-21C>T http://identifiers.org/clinvar/362020 ^@ NM_006096.3(NDRG1):c.*677C>T http://identifiers.org/clinvar/367211 ^@ NM_000170.2(GLDC):c.-173T>G http://identifiers.org/clinvar/367222 ^@ NM_004817.3(TJP2):c.1593C>T (p.Val531=) http://identifiers.org/clinvar/367224 ^@ NM_004817.3(TJP2):c.1960T>C (p.Leu654=) http://identifiers.org/clinvar/362093 ^@ NM_031466.7(TRAPPC9):c.664A>G (p.Ile222Val) http://identifiers.org/clinvar/367226 ^@ NM_004817.3(TJP2):c.2275+24delT http://identifiers.org/clinvar/303549 ^@ NM_017547.3(FOXRED1):c.*159C>T http://identifiers.org/clinvar/367230 ^@ NM_004817.3(TJP2):c.2897G>A (p.Ser966Asn) http://identifiers.org/clinvar/303552 ^@ NM_017547.3(FOXRED1):c.*432T>G http://identifiers.org/clinvar/362021 ^@ NM_006096.3(NDRG1):c.*653T>C http://identifiers.org/clinvar/362023 ^@ NM_006096.3(NDRG1):c.*402C>T http://identifiers.org/clinvar/303554 ^@ NM_000220.4(KCNJ1):c.*1011C>T http://identifiers.org/clinvar/303556 ^@ NM_000220.4(KCNJ1):c.*676A>G http://identifiers.org/clinvar/367231 ^@ NM_004817.3(TJP2):c.2909G>A (p.Arg970Gln) http://identifiers.org/clinvar/367232 ^@ NM_004817.3(TJP2):c.2937C>T (p.Ser979=) http://identifiers.org/clinvar/303557 ^@ NM_000220.4(KCNJ1):c.*669A>G http://identifiers.org/clinvar/367233 ^@ NM_004817.3(TJP2):c.2991+8G>A http://identifiers.org/clinvar/367236 ^@ NM_004817.3(TJP2):c.3408-6dupT http://identifiers.org/clinvar/367241 ^@ NM_004817.3(TJP2):c.*633A>G http://identifiers.org/clinvar/362024 ^@ NM_006096.3(NDRG1):c.*306C>T http://identifiers.org/clinvar/362027 ^@ NM_006096.3(NDRG1):c.*184G>A http://identifiers.org/clinvar/362033 ^@ NM_006096.3(NDRG1):c.892-5C>T http://identifiers.org/clinvar/362096 ^@ NM_031466.7(TRAPPC9):c.237G>A (p.Leu79=) http://identifiers.org/clinvar/362097 ^@ NM_031466.7(TRAPPC9):c.-10C>G http://identifiers.org/clinvar/362100 ^@ NM_020427.2(SLURP1):c.261C>T (p.Ala87=) http://identifiers.org/clinvar/362035 ^@ NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) http://identifiers.org/clinvar/362036 ^@ NM_006096.3(NDRG1):c.663C>T (p.Pro221=) http://identifiers.org/clinvar/362037 ^@ NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) http://identifiers.org/clinvar/362108 ^@ NM_000497.3(CYP11B1):c.*1566G>T http://identifiers.org/clinvar/362040 ^@ NM_006096.3(NDRG1):c.199A>G (p.Met67Val) http://identifiers.org/clinvar/367245 ^@ NM_138691.2(TMC1):c.-468G>A http://identifiers.org/clinvar/303560 ^@ NM_000220.4(KCNJ1):c.*507C>T http://identifiers.org/clinvar/303561 ^@ NM_000220.4(KCNJ1):c.*499_*501dupCAA http://identifiers.org/clinvar/362109 ^@ NM_000497.3(CYP11B1):c.*1555delC http://identifiers.org/clinvar/362127 ^@ NM_000497.3(CYP11B1):c.*738G>A http://identifiers.org/clinvar/367246 ^@ NM_138691.2(TMC1):c.-350C>T http://identifiers.org/clinvar/303564 ^@ NM_000220.4(KCNJ1):c.*348C>T http://identifiers.org/clinvar/362129 ^@ NM_000497.3(CYP11B1):c.*718T>G http://identifiers.org/clinvar/362041 ^@ NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser) http://identifiers.org/clinvar/362133 ^@ NM_000497.3(CYP11B1):c.*613A>G http://identifiers.org/clinvar/362134 ^@ NM_000497.3(CYP11B1):c.*516A>G http://identifiers.org/clinvar/367248 ^@ NM_138691.2(TMC1):c.-252C>T http://identifiers.org/clinvar/367253 ^@ NM_138691.2(TMC1):c.473G>A (p.Arg158His) http://identifiers.org/clinvar/367263 ^@ NM_138691.2(TMC1):c.*51G>A http://identifiers.org/clinvar/303568 ^@ NM_000220.4(KCNJ1):c.*16G>A http://identifiers.org/clinvar/303571 ^@ NM_000220.4(KCNJ1):c.849G>A (p.Ala283=) http://identifiers.org/clinvar/362042 ^@ NM_006096.3(NDRG1):c.64-13dupT http://identifiers.org/clinvar/362047 ^@ NM_006096.3(NDRG1):c.-128C>T http://identifiers.org/clinvar/303574 ^@ NM_000220.4(KCNJ1):c.625C>T (p.Leu209Phe) http://identifiers.org/clinvar/303583 ^@ NM_000890.3(KCNJ5):c.-303_-291delCACACACACACACinsGAGAG http://identifiers.org/clinvar/303585 ^@ NM_000890.3(KCNJ5):c.-303_-291delCACACACACACACinsGAGAGAGAGAGAGAGAGAGAGAG http://identifiers.org/clinvar/362050 ^@ NM_031466.7(TRAPPC9):c.*677T>C http://identifiers.org/clinvar/362054 ^@ NM_031466.7(TRAPPC9):c.*331C>T http://identifiers.org/clinvar/367266 ^@ NM_138691.2(TMC1):c.*156T>C http://identifiers.org/clinvar/303586 ^@ NM_000890.3(KCNJ5):c.-301_-291delCACACACACACinsG http://identifiers.org/clinvar/303590 ^@ NM_000890.3(KCNJ5):c.-301_-291delCACACACACACinsGAGAGAGAGAGAGAG http://identifiers.org/clinvar/303594 ^@ NM_000890.3(KCNJ5):c.-296_-295insGAGAGA http://identifiers.org/clinvar/303596 ^@ NM_000890.3(KCNJ5):c.-295_-291delCACACinsGAGAGAGAGAGAG http://identifiers.org/clinvar/362056 ^@ NM_031466.7(TRAPPC9):c.*181G>A http://identifiers.org/clinvar/303597 ^@ NM_000890.3(KCNJ5):c.-295_-291delCACACinsGAGAGAGAGAGAGAGAGAG http://identifiers.org/clinvar/303610 ^@ NM_000890.3(KCNJ5):c.-293C>G http://identifiers.org/clinvar/367267 ^@ NM_138691.2(TMC1):c.*183A>G http://identifiers.org/clinvar/362136 ^@ NM_000497.3(CYP11B1):c.*485C>G http://identifiers.org/clinvar/367269 ^@ NM_017662.4(TRPM6):c.*1997C>G http://identifiers.org/clinvar/367272 ^@ NM_017662.4(TRPM6):c.*1489G>A http://identifiers.org/clinvar/362057 ^@ NM_031466.7(TRAPPC9):c.*104C>T http://identifiers.org/clinvar/362059 ^@ NM_031466.7(TRAPPC9):c.*65C>G http://identifiers.org/clinvar/362065 ^@ NM_031466.7(TRAPPC9):c.3430C>T (p.Arg1144Trp) http://identifiers.org/clinvar/362067 ^@ NM_031466.7(TRAPPC9):c.3121G>C (p.Asp1041His) http://identifiers.org/clinvar/362139 ^@ NM_000497.3(CYP11B1):c.*400C>T http://identifiers.org/clinvar/362140 ^@ NM_000497.3(CYP11B1):c.*318A>G http://identifiers.org/clinvar/367273 ^@ NM_017662.4(TRPM6):c.*1380T>C http://identifiers.org/clinvar/367274 ^@ NM_017662.4(TRPM6):c.*1222C>T http://identifiers.org/clinvar/362141 ^@ NM_000497.3(CYP11B1):c.*245C>G http://identifiers.org/clinvar/367283 ^@ NM_017662.4(TRPM6):c.*740G>T http://identifiers.org/clinvar/362143 ^@ NM_000497.3(CYP11B1):c.*132T>C http://identifiers.org/clinvar/303605 ^@ NM_000890.3(KCNJ5):c.-293_-291delCACinsGAGAGAGAGAGAGAGAG http://identifiers.org/clinvar/362152 ^@ NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) http://identifiers.org/clinvar/362153 ^@ NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) http://identifiers.org/clinvar/362069 ^@ NM_031466.7(TRAPPC9):c.3090C>T (p.Ala1030=) http://identifiers.org/clinvar/303611 ^@ NM_000890.3(KCNJ5):c.-291_-288delCAGA http://identifiers.org/clinvar/362070 ^@ NM_031466.7(TRAPPC9):c.3087C>T (p.His1029=) http://identifiers.org/clinvar/362071 ^@ NM_031466.7(TRAPPC9):c.3036C>T (p.Thr1012=) http://identifiers.org/clinvar/367296 ^@ NM_017662.4(TRPM6):c.5936-8C>T http://identifiers.org/clinvar/303612 ^@ NM_000890.3(KCNJ5):c.-291_-286delCAGAGA http://identifiers.org/clinvar/303613 ^@ NM_000890.3(KCNJ5):c.-291delCinsGAGAGAGAG http://identifiers.org/clinvar/303621 ^@ NM_000890.3(KCNJ5):c.-285G>C http://identifiers.org/clinvar/367298 ^@ NM_017662.4(TRPM6):c.5216C>G (p.Thr1739Ser) http://identifiers.org/clinvar/367303 ^@ NM_017662.4(TRPM6):c.4591C>T (p.Arg1531Cys) http://identifiers.org/clinvar/362156 ^@ NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) http://identifiers.org/clinvar/303625 ^@ NM_000890.3(KCNJ5):c.-253G>T http://identifiers.org/clinvar/303631 ^@ NM_000890.3(KCNJ5):c.800G>A (p.Arg267His) http://identifiers.org/clinvar/303634 ^@ NM_000890.3(KCNJ5):c.*34G>T http://identifiers.org/clinvar/303635 ^@ NM_000890.3(KCNJ5):c.*96G>A http://identifiers.org/clinvar/367305 ^@ NM_017662.4(TRPM6):c.4221C>T (p.His1407=) http://identifiers.org/clinvar/367319 ^@ NM_017662.4(TRPM6):c.1872T>C (p.Ala624=) http://identifiers.org/clinvar/367322 ^@ NM_017662.4(TRPM6):c.1639C>T (p.His547Tyr) http://identifiers.org/clinvar/303641 ^@ NM_000890.3(KCNJ5):c.*410C>T http://identifiers.org/clinvar/303643 ^@ NM_000890.3(KCNJ5):c.*528C>T http://identifiers.org/clinvar/367323 ^@ NM_017662.4(TRPM6):c.1444-15T>C http://identifiers.org/clinvar/367327 ^@ NM_017662.4(TRPM6):c.954C>T (p.Gly318=) http://identifiers.org/clinvar/303644 ^@ NM_000890.3(KCNJ5):c.*547G>A http://identifiers.org/clinvar/362072 ^@ NM_031466.7(TRAPPC9):c.2947G>A (p.Glu983Lys) http://identifiers.org/clinvar/367339 ^@ NM_033305.2(VPS13A):c.-158G>C http://identifiers.org/clinvar/303648 ^@ NM_000890.3(KCNJ5):c.*779G>T http://identifiers.org/clinvar/303653 ^@ NM_000890.3(KCNJ5):c.*936C>G http://identifiers.org/clinvar/303658 ^@ NM_000890.3(KCNJ5):c.*978T>G http://identifiers.org/clinvar/367341 ^@ NM_033305.2(VPS13A):c.-148C>T http://identifiers.org/clinvar/367345 ^@ NM_033305.2(VPS13A):c.295_297delGAT (p.Asp99del) http://identifiers.org/clinvar/367346 ^@ NM_033305.2(VPS13A):c.775A>G (p.Asn259Asp) http://identifiers.org/clinvar/362073 ^@ NM_031466.7(TRAPPC9):c.2946C>T (p.Val982=) http://identifiers.org/clinvar/362082 ^@ NM_031466.7(TRAPPC9):c.2232G>A (p.Thr744=) http://identifiers.org/clinvar/303667 ^@ NM_000890.3(KCNJ5):c.*1323delC http://identifiers.org/clinvar/362091 ^@ NM_031466.7(TRAPPC9):c.874A>C (p.Ser292Arg) http://identifiers.org/clinvar/303669 ^@ NM_000890.3(KCNJ5):c.*1338C>A http://identifiers.org/clinvar/367347 ^@ NM_033305.2(VPS13A):c.927A>G (p.Ala309=) http://identifiers.org/clinvar/362094 ^@ NM_031466.7(TRAPPC9):c.434G>A (p.Arg145Gln) http://identifiers.org/clinvar/362099 ^@ NM_020427.2(SLURP1):c.*14G>A http://identifiers.org/clinvar/303673 ^@ NM_014384.2(ACAD8):c.275A>G (p.Gln92Arg) http://identifiers.org/clinvar/362103 ^@ NM_000497.3(CYP11B1):c.*1871T>A http://identifiers.org/clinvar/362107 ^@ NM_000497.3(CYP11B1):c.*1590G>C http://identifiers.org/clinvar/303674 ^@ NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) http://identifiers.org/clinvar/303677 ^@ NM_014384.2(ACAD8):c.525C>T (p.Ser175=) http://identifiers.org/clinvar/367356 ^@ NM_033305.2(VPS13A):c.1744T>C (p.Cys582Arg) http://identifiers.org/clinvar/362110 ^@ NM_000497.3(CYP11B1):c.*1512G>A http://identifiers.org/clinvar/362112 ^@ NM_000497.3(CYP11B1):c.*1435T>C http://identifiers.org/clinvar/362119 ^@ NM_000497.3(CYP11B1):c.*1138delA http://identifiers.org/clinvar/362121 ^@ NM_000497.3(CYP11B1):c.*1042A>G http://identifiers.org/clinvar/367363 ^@ NM_033305.2(VPS13A):c.2175T>G (p.Asp725Glu) http://identifiers.org/clinvar/367366 ^@ NM_033305.2(VPS13A):c.2391A>G (p.Pro797=) http://identifiers.org/clinvar/362122 ^@ NM_000497.3(CYP11B1):c.*1020C>T http://identifiers.org/clinvar/362125 ^@ NM_000497.3(CYP11B1):c.*857T>C http://identifiers.org/clinvar/303679 ^@ NM_014384.2(ACAD8):c.567+12C>T http://identifiers.org/clinvar/362157 ^@ NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) http://identifiers.org/clinvar/362126 ^@ NM_000497.3(CYP11B1):c.*848C>T http://identifiers.org/clinvar/362170 ^@ NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) http://identifiers.org/clinvar/362181 ^@ NM_000498.3(CYP11B2):c.*579T>C http://identifiers.org/clinvar/362183 ^@ NM_000498.3(CYP11B2):c.*537C>T http://identifiers.org/clinvar/362184 ^@ NM_000498.3(CYP11B2):c.*532G>T http://identifiers.org/clinvar/362186 ^@ NM_000498.3(CYP11B2):c.*431A>C http://identifiers.org/clinvar/362199 ^@ NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) http://identifiers.org/clinvar/362201 ^@ NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) http://identifiers.org/clinvar/362217 ^@ NM_000498.3(CYP11B2):c.595+14G>A http://identifiers.org/clinvar/362138 ^@ NM_000497.3(CYP11B1):c.*468C>T http://identifiers.org/clinvar/367371 ^@ NM_033305.2(VPS13A):c.3045G>A (p.Pro1015=) http://identifiers.org/clinvar/303685 ^@ NM_014384.2(ACAD8):c.1195+12C>T http://identifiers.org/clinvar/367384 ^@ NM_033305.2(VPS13A):c.4509A>G (p.Gln1503=) http://identifiers.org/clinvar/362219 ^@ NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) http://identifiers.org/clinvar/367385 ^@ NM_033305.2(VPS13A):c.4909A>C (p.Thr1637Pro) http://identifiers.org/clinvar/303687 ^@ NM_014384.2(ACAD8):c.*168G>A http://identifiers.org/clinvar/303688 ^@ NM_014384.2(ACAD8):c.*238G>C http://identifiers.org/clinvar/362144 ^@ NM_000497.3(CYP11B1):c.1488C>T (p.Leu496=) http://identifiers.org/clinvar/303691 ^@ NM_014384.2(ACAD8):c.*351C>G http://identifiers.org/clinvar/362220 ^@ NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) http://identifiers.org/clinvar/362226 ^@ NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) http://identifiers.org/clinvar/303695 ^@ NM_014384.2(ACAD8):c.*608G>A http://identifiers.org/clinvar/303697 ^@ NM_014384.2(ACAD8):c.*696A>G http://identifiers.org/clinvar/367388 ^@ NM_033305.2(VPS13A):c.5292G>T (p.Leu1764=) http://identifiers.org/clinvar/303698 ^@ NM_014384.2(ACAD8):c.*705T>G http://identifiers.org/clinvar/362231 ^@ NM_130849.3(SLC39A4):c.1511A>G (p.Asp504Gly) http://identifiers.org/clinvar/303700 ^@ NM_000315.3(PTH):c.*319A>G http://identifiers.org/clinvar/362147 ^@ NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) http://identifiers.org/clinvar/303702 ^@ NM_000315.3(PTH):c.*51A>G http://identifiers.org/clinvar/303712 ^@ NM_000525.3(KCNJ11):c.*862G>T http://identifiers.org/clinvar/303718 ^@ NM_000525.3(KCNJ11):c.*678C>T http://identifiers.org/clinvar/367390 ^@ NM_033305.2(VPS13A):c.5725T>C (p.Leu1909=) http://identifiers.org/clinvar/303719 ^@ NM_000525.3(KCNJ11):c.*546G>A http://identifiers.org/clinvar/303730 ^@ NM_000525.3(KCNJ11):c.*76G>A http://identifiers.org/clinvar/362236 ^@ NM_130849.3(SLC39A4):c.1174G>C (p.Glu392Gln) http://identifiers.org/clinvar/303735 ^@ NM_000525.3(KCNJ11):c.804C>T (p.Tyr268=) http://identifiers.org/clinvar/362237 ^@ NM_130849.3(SLC39A4):c.1150G>A (p.Val384Met) http://identifiers.org/clinvar/303736 ^@ NM_000525.3(KCNJ11):c.741C>T (p.Asn247=) http://identifiers.org/clinvar/362242 ^@ NM_130849.3(SLC39A4):c.1069A>G (p.Thr357Ala) http://identifiers.org/clinvar/362148 ^@ NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) http://identifiers.org/clinvar/367391 ^@ NM_033305.2(VPS13A):c.5747G>A (p.Ser1916Asn) http://identifiers.org/clinvar/303737 ^@ NM_000525.3(KCNJ11):c.525C>A (p.His175Gln) http://identifiers.org/clinvar/362158 ^@ NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) http://identifiers.org/clinvar/303739 ^@ NM_000525.3(KCNJ11):c.-150G>A http://identifiers.org/clinvar/303742 ^@ NM_000525.3(KCNJ11):c.-498T>C http://identifiers.org/clinvar/303743 ^@ NM_000525.3(KCNJ11):c.-515G>A http://identifiers.org/clinvar/303748 ^@ NM_000352.4(ABCC8):c.4647C>T (p.Ile1549=) http://identifiers.org/clinvar/303764 ^@ NM_000352.4(ABCC8):c.3399+13G>A http://identifiers.org/clinvar/362243 ^@ NM_130849.3(SLC39A4):c.1035C>A (p.Leu345=) http://identifiers.org/clinvar/362245 ^@ NM_130849.3(SLC39A4):c.948C>T (p.Pro316=) http://identifiers.org/clinvar/367392 ^@ NM_033305.2(VPS13A):c.5786A>G (p.Asn1929Ser) http://identifiers.org/clinvar/303765 ^@ NM_000352.4(ABCC8):c.3224T>C (p.Ile1075Thr) http://identifiers.org/clinvar/367393 ^@ NM_033305.2(VPS13A):c.5795C>A (p.Thr1932Asn) http://identifiers.org/clinvar/367398 ^@ NM_033305.2(VPS13A):c.6131A>G (p.Tyr2044Cys) http://identifiers.org/clinvar/367403 ^@ NM_033305.2(VPS13A):c.6591T>C (p.Ala2197=) http://identifiers.org/clinvar/367406 ^@ NM_033305.2(VPS13A):c.7044T>A (p.Pro2348=) http://identifiers.org/clinvar/362160 ^@ NM_000497.3(CYP11B1):c.800-14C>T http://identifiers.org/clinvar/303767 ^@ NM_000352.4(ABCC8):c.3053C>T (p.Ser1018Leu) http://identifiers.org/clinvar/362166 ^@ NM_000497.3(CYP11B1):c.375C>G (p.His125Gln) http://identifiers.org/clinvar/362246 ^@ NM_130849.3(SLC39A4):c.869C>T (p.Pro290Leu) http://identifiers.org/clinvar/362248 ^@ NM_130849.3(SLC39A4):c.805-12G>T http://identifiers.org/clinvar/303771 ^@ NM_000352.4(ABCC8):c.2635G>A (p.Asp879Asn) http://identifiers.org/clinvar/362171 ^@ NM_000497.3(CYP11B1):c.104T>C (p.Val35Ala) http://identifiers.org/clinvar/303774 ^@ NM_000352.4(ABCC8):c.2256-3C>T http://identifiers.org/clinvar/362259 ^@ NM_130849.3(SLC39A4):c.364C>T (p.His122Tyr) http://identifiers.org/clinvar/362173 ^@ NM_000498.3(CYP11B2):c.*1178T>C http://identifiers.org/clinvar/367407 ^@ NM_033305.2(VPS13A):c.7078G>A (p.Glu2360Lys) http://identifiers.org/clinvar/362265 ^@ NM_130849.3(SLC39A4):c.172G>A (p.Ala58Thr) http://identifiers.org/clinvar/362271 ^@ NM_003923.2(FOXH1):c.*451C>T http://identifiers.org/clinvar/362176 ^@ NM_000498.3(CYP11B2):c.*789G>A http://identifiers.org/clinvar/362272 ^@ NM_003923.2(FOXH1):c.*311C>T http://identifiers.org/clinvar/303775 ^@ NM_000352.4(ABCC8):c.2256-9C>T http://identifiers.org/clinvar/303777 ^@ NM_000352.4(ABCC8):c.2060C>T (p.Thr687Met) http://identifiers.org/clinvar/367410 ^@ NM_033305.2(VPS13A):c.7155+14dupT http://identifiers.org/clinvar/303782 ^@ NM_000352.4(ABCC8):c.1605C>T (p.Ala535=) http://identifiers.org/clinvar/362273 ^@ NM_003923.2(FOXH1):c.*237_*239delGAG http://identifiers.org/clinvar/362179 ^@ NM_000498.3(CYP11B2):c.*743C>T http://identifiers.org/clinvar/303785 ^@ NM_000352.4(ABCC8):c.541A>T (p.Met181Leu) http://identifiers.org/clinvar/362275 ^@ NM_003923.2(FOXH1):c.*74G>A http://identifiers.org/clinvar/303786 ^@ NM_000352.4(ABCC8):c.486C>T (p.Ile162=) http://identifiers.org/clinvar/362276 ^@ NM_003923.2(FOXH1):c.*55C>T http://identifiers.org/clinvar/303797 ^@ NM_005709.3(USH1C):c.*218C>T http://identifiers.org/clinvar/362288 ^@ NM_003923.2(FOXH1):c.-314T>G http://identifiers.org/clinvar/362185 ^@ NM_000498.3(CYP11B2):c.*504C>T http://identifiers.org/clinvar/303798 ^@ NM_005709.3(USH1C):c.*172C>T http://identifiers.org/clinvar/303811 ^@ NM_005709.3(USH1C):c.759+10G>T http://identifiers.org/clinvar/362187 ^@ NM_000498.3(CYP11B2):c.*299G>A http://identifiers.org/clinvar/367411 ^@ NM_033305.2(VPS13A):c.7231G>T (p.Ala2411Ser) http://identifiers.org/clinvar/367421 ^@ NM_033305.2(VPS13A):c.8228A>C (p.Lys2743Thr) http://identifiers.org/clinvar/367423 ^@ NM_033305.2(VPS13A):c.8571T>C (p.Tyr2857=) http://identifiers.org/clinvar/303812 ^@ NM_005709.3(USH1C):c.634G>A (p.Val212Ile) http://identifiers.org/clinvar/362188 ^@ NM_000498.3(CYP11B2):c.*292_*294dupTCC http://identifiers.org/clinvar/303821 ^@ NM_001909.4(CTSD):c.*654C>T http://identifiers.org/clinvar/367430 ^@ NM_033305.2(VPS13A):c.9193A>G (p.Met3065Val) http://identifiers.org/clinvar/303823 ^@ NM_001909.4(CTSD):c.*574C>T http://identifiers.org/clinvar/303825 ^@ NM_001909.4(CTSD):c.*358C>T http://identifiers.org/clinvar/303831 ^@ NM_001909.4(CTSD):c.*67A>G http://identifiers.org/clinvar/367434 ^@ NM_033305.2(VPS13A):c.*81A>G http://identifiers.org/clinvar/367438 ^@ NM_033305.2(VPS13A):c.*277_*279delAGA http://identifiers.org/clinvar/367441 ^@ NM_033305.2(VPS13A):c.*503C>A http://identifiers.org/clinvar/367443 ^@ NM_033305.2(VPS13A):c.*774_*776delGCT http://identifiers.org/clinvar/362289 ^@ NM_003923.2(FOXH1):c.-333T>C http://identifiers.org/clinvar/367446 ^@ NM_033305.2(VPS13A):c.*1095A>G http://identifiers.org/clinvar/362190 ^@ NM_000498.3(CYP11B2):c.*204C>G http://identifiers.org/clinvar/362192 ^@ NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) http://identifiers.org/clinvar/367452 ^@ NM_058179.3(PSAT1):c.54G>A (p.Pro18=) http://identifiers.org/clinvar/362195 ^@ NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) http://identifiers.org/clinvar/362196 ^@ NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) http://identifiers.org/clinvar/367453 ^@ NM_058179.3(PSAT1):c.55C>G (p.His19Asp) http://identifiers.org/clinvar/303832 ^@ NM_001909.4(CTSD):c.*58C>T http://identifiers.org/clinvar/367454 ^@ NM_058179.3(PSAT1):c.297T>G (p.Ala99=) http://identifiers.org/clinvar/303835 ^@ NM_001909.4(CTSD):c.973-8C>A http://identifiers.org/clinvar/362197 ^@ NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) http://identifiers.org/clinvar/362198 ^@ NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) http://identifiers.org/clinvar/362200 ^@ NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) http://identifiers.org/clinvar/362202 ^@ NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) http://identifiers.org/clinvar/303818 ^@ NM_005709.3(USH1C):c.-71T>G http://identifiers.org/clinvar/362292 ^@ NM_006765.3(TUSC3):c.-304G>T http://identifiers.org/clinvar/362301 ^@ NM_006765.3(TUSC3):c.-159C>T http://identifiers.org/clinvar/362305 ^@ NM_006765.3(TUSC3):c.-108G>A http://identifiers.org/clinvar/362205 ^@ NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) http://identifiers.org/clinvar/303838 ^@ NM_001909.4(CTSD):c.660G>C (p.Gln220His) http://identifiers.org/clinvar/362209 ^@ NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) http://identifiers.org/clinvar/303843 ^@ NM_001909.4(CTSD):c.-37G>A http://identifiers.org/clinvar/303847 ^@ NM_181507.1(HPS5):c.*1068T>A http://identifiers.org/clinvar/362228 ^@ NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) http://identifiers.org/clinvar/303853 ^@ NM_181507.1(HPS5):c.*804C>T http://identifiers.org/clinvar/303857 ^@ NM_181507.1(HPS5):c.*475C>T http://identifiers.org/clinvar/367459 ^@ NM_058179.3(PSAT1):c.1007+13G>A http://identifiers.org/clinvar/303859 ^@ NM_181507.1(HPS5):c.*443T>A http://identifiers.org/clinvar/303867 ^@ NM_181507.1(HPS5):c.3229C>T (p.Arg1077Trp) http://identifiers.org/clinvar/362306 ^@ NM_006765.3(TUSC3):c.-87C>T http://identifiers.org/clinvar/303869 ^@ NM_181507.1(HPS5):c.3076G>A (p.Val1026Met) http://identifiers.org/clinvar/303877 ^@ NM_181507.1(HPS5):c.2441-8T>C http://identifiers.org/clinvar/303892 ^@ NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) http://identifiers.org/clinvar/362308 ^@ NM_006765.3(TUSC3):c.-46G>C http://identifiers.org/clinvar/362314 ^@ NM_006765.3(TUSC3):c.937+11G>C http://identifiers.org/clinvar/362229 ^@ NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) http://identifiers.org/clinvar/303896 ^@ NM_181507.1(HPS5):c.309A>G (p.Glu103=) http://identifiers.org/clinvar/362319 ^@ NM_006765.3(TUSC3):c.*789C>T http://identifiers.org/clinvar/303908 ^@ NM_005566.3(LDHA):c.-152dupC http://identifiers.org/clinvar/367460 ^@ NM_058179.3(PSAT1):c.1008-11G>T http://identifiers.org/clinvar/303910 ^@ NM_005566.3(LDHA):c.126+3_126+6delAAGT http://identifiers.org/clinvar/362230 ^@ NM_130849.3(SLC39A4):c.1536G>A (p.Gly512=) http://identifiers.org/clinvar/362324 ^@ NM_006765.3(TUSC3):c.*1009C>A http://identifiers.org/clinvar/362326 ^@ NM_006765.3(TUSC3):c.*1078C>G http://identifiers.org/clinvar/362240 ^@ NM_130849.3(SLC39A4):c.1126G>A (p.Ala376Thr) http://identifiers.org/clinvar/303936 ^@ NM_003282.3(TNNI2):c.149C>T (p.Pro50Leu) http://identifiers.org/clinvar/303923 ^@ NM_005566.3(LDHA):c.*582C>T http://identifiers.org/clinvar/362247 ^@ NM_130849.3(SLC39A4):c.850G>A (p.Glu284Lys) http://identifiers.org/clinvar/362250 ^@ NM_130849.3(SLC39A4):c.804G>A (p.Thr268=) http://identifiers.org/clinvar/367466 ^@ NM_058179.3(PSAT1):c.*664A>G http://identifiers.org/clinvar/367474 ^@ NM_001698.2(AUH):c.*107A>G http://identifiers.org/clinvar/362252 ^@ NM_130849.3(SLC39A4):c.668-10T>C http://identifiers.org/clinvar/362257 ^@ NM_130849.3(SLC39A4):c.473C>T (p.Thr158Met) http://identifiers.org/clinvar/362258 ^@ NM_130849.3(SLC39A4):c.465C>T (p.Thr155=) http://identifiers.org/clinvar/303924 ^@ NM_005566.3(LDHA):c.*586A>G http://identifiers.org/clinvar/367475 ^@ NM_001698.2(AUH):c.*29G>A http://identifiers.org/clinvar/362333 ^@ NM_006765.3(TUSC3):c.*1531A>G http://identifiers.org/clinvar/303925 ^@ NM_005566.3(LDHA):c.*622A>G http://identifiers.org/clinvar/362335 ^@ NM_006765.3(TUSC3):c.*1737C>T http://identifiers.org/clinvar/362336 ^@ NM_006765.3(TUSC3):c.*1943_*1944insTT http://identifiers.org/clinvar/303926 ^@ NM_005566.3(LDHA):c.*639T>C http://identifiers.org/clinvar/362342 ^@ NM_006765.3(TUSC3):c.*2138T>C http://identifiers.org/clinvar/362350 ^@ NM_177924.4(ASAH1):c.*1073C>T http://identifiers.org/clinvar/362352 ^@ NM_177924.4(ASAH1):c.*933T>C http://identifiers.org/clinvar/367482 ^@ NM_004560.3(ROR2):c.*766T>C http://identifiers.org/clinvar/362260 ^@ NM_130849.3(SLC39A4):c.340G>A (p.Ala114Thr) http://identifiers.org/clinvar/362261 ^@ NM_130849.3(SLC39A4):c.276C>T (p.Tyr92=) http://identifiers.org/clinvar/362264 ^@ NM_130849.3(SLC39A4):c.192+5C>A http://identifiers.org/clinvar/303929 ^@ NM_005566.3(LDHA):c.*720C>G http://identifiers.org/clinvar/303930 ^@ NM_005566.3(LDHA):c.*725T>G http://identifiers.org/clinvar/362362 ^@ NM_177924.4(ASAH1):c.*368C>T http://identifiers.org/clinvar/362363 ^@ NM_177924.4(ASAH1):c.*356C>G http://identifiers.org/clinvar/362368 ^@ NM_177924.4(ASAH1):c.*178A>G http://identifiers.org/clinvar/303932 ^@ NM_005566.3(LDHA):c.*817A>C http://identifiers.org/clinvar/362266 ^@ NM_130849.3(SLC39A4):c.171C>T (p.Cys57=) http://identifiers.org/clinvar/303939 ^@ NM_003282.3(TNNI2):c.276+15C>T http://identifiers.org/clinvar/303943 ^@ NM_003282.3(TNNI2):c.*94C>T http://identifiers.org/clinvar/362375 ^@ NM_177924.4(ASAH1):c.704G>A (p.Gly235Asp) http://identifiers.org/clinvar/303951 ^@ NM_003476.4(CSRP3):c.537G>A (p.Thr179=) http://identifiers.org/clinvar/367483 ^@ NM_004560.3(ROR2):c.*736A>G http://identifiers.org/clinvar/303953 ^@ NM_003476.4(CSRP3):c.414+6A>G http://identifiers.org/clinvar/362376 ^@ NM_177924.4(ASAH1):c.629T>C (p.Met210Thr) http://identifiers.org/clinvar/362377 ^@ NM_177924.4(ASAH1):c.620A>T (p.Tyr207Phe) http://identifiers.org/clinvar/362267 ^@ NM_130849.3(SLC39A4):c.63G>C (p.Thr21=) http://identifiers.org/clinvar/303954 ^@ NM_003476.4(CSRP3):c.302C>T (p.Ser101Leu) http://identifiers.org/clinvar/362268 ^@ NM_130849.3(SLC39A4):c.-10G>A http://identifiers.org/clinvar/303958 ^@ NM_003476.4(CSRP3):c.-161delG http://identifiers.org/clinvar/303959 ^@ NM_003476.4(CSRP3):c.-162delA http://identifiers.org/clinvar/303960 ^@ NM_003476.4(CSRP3):c.-163A>G http://identifiers.org/clinvar/362269 ^@ NM_130849.3(SLC39A4):c.-21T>G http://identifiers.org/clinvar/303968 ^@ NM_006757.3(TNNT3):c.68-14C>T http://identifiers.org/clinvar/303970 ^@ NM_006757.3(TNNT3):c.107-6G>A http://identifiers.org/clinvar/303973 ^@ NM_006757.3(TNNT3):c.480+9C>T http://identifiers.org/clinvar/362380 ^@ NM_177924.4(ASAH1):c.382+9C>G http://identifiers.org/clinvar/362384 ^@ NM_177924.4(ASAH1):c.183A>G (p.Arg61=) http://identifiers.org/clinvar/362388 ^@ NM_177924.4(ASAH1):c.-27C>T http://identifiers.org/clinvar/367484 ^@ NM_004560.3(ROR2):c.*712C>T http://identifiers.org/clinvar/362391 ^@ NM_177924.4(ASAH1):c.-104C>G http://identifiers.org/clinvar/362392 ^@ NM_177924.4(ASAH1):c.-175A>T http://identifiers.org/clinvar/303978 ^@ NM_006757.3(TNNT3):c.722+15C>T http://identifiers.org/clinvar/362396 ^@ NM_177924.4(ASAH1):c.-247C>G http://identifiers.org/clinvar/367485 ^@ NM_004560.3(ROR2):c.*682C>G http://identifiers.org/clinvar/303979 ^@ NM_006757.3(TNNT3):c.759C>T (p.Val253=) http://identifiers.org/clinvar/303984 ^@ NM_004211.4(SLC6A5):c.-192C>T http://identifiers.org/clinvar/362277 ^@ NM_003923.2(FOXH1):c.*23C>T http://identifiers.org/clinvar/367486 ^@ NM_004560.3(ROR2):c.*558C>T http://identifiers.org/clinvar/367487 ^@ NM_004560.3(ROR2):c.*521G>A http://identifiers.org/clinvar/362278 ^@ NM_003923.2(FOXH1):c.933G>C (p.Trp311Cys) http://identifiers.org/clinvar/362282 ^@ NM_003923.2(FOXH1):c.389G>A (p.Arg130His) http://identifiers.org/clinvar/367492 ^@ NM_004560.3(ROR2):c.*180C>A http://identifiers.org/clinvar/367500 ^@ NM_004560.3(ROR2):c.1820C>T (p.Ser607Phe) http://identifiers.org/clinvar/367502 ^@ NM_004560.3(ROR2):c.1642C>T (p.Pro548Ser) http://identifiers.org/clinvar/303985 ^@ NM_004211.4(SLC6A5):c.-181A>G http://identifiers.org/clinvar/303986 ^@ NM_004211.4(SLC6A5):c.-176T>G http://identifiers.org/clinvar/303993 ^@ NM_004211.4(SLC6A5):c.4-11T>C http://identifiers.org/clinvar/362397 ^@ NM_000237.2(LPL):c.-299T>G http://identifiers.org/clinvar/362283 ^@ NM_003923.2(FOXH1):c.260C>G (p.Ser87Cys) http://identifiers.org/clinvar/362400 ^@ NM_000237.2(LPL):c.-172_-171dupCC http://identifiers.org/clinvar/362291 ^@ NM_003923.2(FOXH1):c.-506G>A http://identifiers.org/clinvar/362407 ^@ NM_000237.2(LPL):c.405G>A (p.Val135=) http://identifiers.org/clinvar/362294 ^@ NM_006765.3(TUSC3):c.-289A>G http://identifiers.org/clinvar/367507 ^@ NM_004560.3(ROR2):c.1307C>T (p.Ala436Val) http://identifiers.org/clinvar/367511 ^@ NM_004560.3(ROR2):c.864G>A (p.Ala288=) http://identifiers.org/clinvar/362304 ^@ NM_006765.3(TUSC3):c.-120C>T http://identifiers.org/clinvar/362309 ^@ NM_006765.3(TUSC3):c.3G>A (p.Met1Ile) http://identifiers.org/clinvar/362310 ^@ NM_006765.3(TUSC3):c.259A>G (p.Ile87Val) http://identifiers.org/clinvar/362317 ^@ NM_006765.3(TUSC3):c.*605C>G http://identifiers.org/clinvar/367519 ^@ NM_004560.3(ROR2):c.-36A>G http://identifiers.org/clinvar/362320 ^@ NM_006765.3(TUSC3):c.*854T>C http://identifiers.org/clinvar/367520 ^@ NM_004560.3(ROR2):c.-60G>T http://identifiers.org/clinvar/367531 ^@ NM_006415.3(SPTLC1):c.*1009G>T http://identifiers.org/clinvar/362408 ^@ NM_000237.2(LPL):c.430-6C>T http://identifiers.org/clinvar/303998 ^@ NM_004211.4(SLC6A5):c.134C>G (p.Ala45Gly) http://identifiers.org/clinvar/304001 ^@ NM_004211.4(SLC6A5):c.266C>A (p.Ala89Glu) http://identifiers.org/clinvar/367532 ^@ NM_006415.3(SPTLC1):c.*750C>T http://identifiers.org/clinvar/367537 ^@ NM_006415.3(SPTLC1):c.*451G>A http://identifiers.org/clinvar/367538 ^@ NM_006415.3(SPTLC1):c.*445A>G http://identifiers.org/clinvar/304003 ^@ NM_004211.4(SLC6A5):c.336C>T (p.Ser112=) http://identifiers.org/clinvar/367539 ^@ NM_006415.3(SPTLC1):c.*200G>T http://identifiers.org/clinvar/304004 ^@ NM_004211.4(SLC6A5):c.342C>G (p.Pro114=) http://identifiers.org/clinvar/304005 ^@ NM_004211.4(SLC6A5):c.347A>G (p.Asn116Ser) http://identifiers.org/clinvar/362321 ^@ NM_006765.3(TUSC3):c.*869A>C http://identifiers.org/clinvar/304006 ^@ NM_004211.4(SLC6A5):c.352C>T (p.Leu118=) http://identifiers.org/clinvar/362323 ^@ NM_006765.3(TUSC3):c.*993T>C http://identifiers.org/clinvar/304008 ^@ NM_004211.4(SLC6A5):c.371T>C (p.Phe124Ser) http://identifiers.org/clinvar/304013 ^@ NM_004211.4(SLC6A5):c.777A>G (p.Pro259=) http://identifiers.org/clinvar/367542 ^@ NM_006415.3(SPTLC1):c.*124A>G http://identifiers.org/clinvar/367546 ^@ NM_006415.3(SPTLC1):c.1137-15_1137-14dupGT http://identifiers.org/clinvar/362330 ^@ NM_006765.3(TUSC3):c.*1288G>A http://identifiers.org/clinvar/304016 ^@ NM_004211.4(SLC6A5):c.951G>A (p.Thr317=) http://identifiers.org/clinvar/362338 ^@ NM_006765.3(TUSC3):c.*1957A>G http://identifiers.org/clinvar/304022 ^@ NM_004211.4(SLC6A5):c.1371G>C (p.Lys457Asn) http://identifiers.org/clinvar/304023 ^@ NM_004211.4(SLC6A5):c.1387G>A (p.Asp463Asn) http://identifiers.org/clinvar/304034 ^@ NM_004211.4(SLC6A5):c.2103G>A (p.Glu701=) http://identifiers.org/clinvar/362411 ^@ NM_000237.2(LPL):c.678A>G (p.Pro226=) http://identifiers.org/clinvar/362414 ^@ NM_000237.2(LPL):c.1279G>A (p.Ala427Thr) http://identifiers.org/clinvar/362416 ^@ NM_000237.2(LPL):c.*8C>T http://identifiers.org/clinvar/367552 ^@ NM_006415.3(SPTLC1):c.58-9C>T http://identifiers.org/clinvar/362417 ^@ NM_000237.2(LPL):c.*9G>A http://identifiers.org/clinvar/362421 ^@ NM_000237.2(LPL):c.*309A>T http://identifiers.org/clinvar/304036 ^@ NM_004211.4(SLC6A5):c.2186T>C (p.Ile729Thr) http://identifiers.org/clinvar/362422 ^@ NM_000237.2(LPL):c.*371T>C http://identifiers.org/clinvar/304037 ^@ NM_004211.4(SLC6A5):c.2214T>A (p.His738Gln) http://identifiers.org/clinvar/367553 ^@ NM_006415.3(SPTLC1):c.-27C>T http://identifiers.org/clinvar/367554 ^@ NM_000507.3(FBP1):c.*248delA http://identifiers.org/clinvar/362425 ^@ NM_000237.2(LPL):c.*544A>G http://identifiers.org/clinvar/362427 ^@ NM_000237.2(LPL):c.*688G>A http://identifiers.org/clinvar/362339 ^@ NM_006765.3(TUSC3):c.*2010dupT http://identifiers.org/clinvar/367556 ^@ NM_000507.3(FBP1):c.731G>A (p.Arg244Gln) http://identifiers.org/clinvar/362345 ^@ NM_006765.3(TUSC3):c.*2241T>C http://identifiers.org/clinvar/367560 ^@ NM_000507.3(FBP1):c.-54C>A http://identifiers.org/clinvar/304041 ^@ NM_004211.4(SLC6A5):c.2306G>A (p.Arg769His) http://identifiers.org/clinvar/362355 ^@ NM_177924.4(ASAH1):c.*738C>G http://identifiers.org/clinvar/304042 ^@ NM_004211.4(SLC6A5):c.2366A>G (p.Lys789Arg) http://identifiers.org/clinvar/362432 ^@ NM_000237.2(LPL):c.*853C>T http://identifiers.org/clinvar/304047 ^@ NM_004211.4(SLC6A5):c.*161G>T http://identifiers.org/clinvar/304054 ^@ NM_000207.2(INS):c.153A>G (p.Thr51=) http://identifiers.org/clinvar/362356 ^@ NM_177924.4(ASAH1):c.*729T>C http://identifiers.org/clinvar/362357 ^@ NM_177924.4(ASAH1):c.*708_*711delGAAG http://identifiers.org/clinvar/362361 ^@ NM_177924.4(ASAH1):c.*501T>C http://identifiers.org/clinvar/304061 ^@ NM_000207.2(INS):c.-18+3C>G http://identifiers.org/clinvar/362366 ^@ NM_177924.4(ASAH1):c.*200C>T http://identifiers.org/clinvar/362373 ^@ NM_177924.4(ASAH1):c.1105G>A (p.Val369Ile) http://identifiers.org/clinvar/367567 ^@ NM_000507.3(FBP1):c.-238G>A http://identifiers.org/clinvar/367568 ^@ NM_000507.3(FBP1):c.-246G>T http://identifiers.org/clinvar/362374 ^@ NM_177924.4(ASAH1):c.910G>C (p.Val304Leu) http://identifiers.org/clinvar/367569 ^@ NM_000136.2(FANCC):c.*2552T>C http://identifiers.org/clinvar/362378 ^@ NM_177924.4(ASAH1):c.504-4A>G http://identifiers.org/clinvar/304062 ^@ NM_000360.3(TH):c.*277G>A http://identifiers.org/clinvar/304063 ^@ NM_000360.3(TH):c.*109G>A http://identifiers.org/clinvar/367570 ^@ NM_000136.2(FANCC):c.*2528A>G http://identifiers.org/clinvar/367574 ^@ NM_000136.2(FANCC):c.*2128C>T http://identifiers.org/clinvar/367576 ^@ NM_000136.2(FANCC):c.*2052G>C http://identifiers.org/clinvar/304064 ^@ NM_000360.3(TH):c.*52C>T http://identifiers.org/clinvar/304067 ^@ NM_000360.3(TH):c.1400A>G (p.Asp467Gly) http://identifiers.org/clinvar/367585 ^@ NM_000136.2(FANCC):c.*1483T>C http://identifiers.org/clinvar/304070 ^@ NM_000360.3(TH):c.1170C>G (p.Ala390=) http://identifiers.org/clinvar/304072 ^@ NM_000360.3(TH):c.1069G>A (p.Gly357Arg) http://identifiers.org/clinvar/362385 ^@ NM_177924.4(ASAH1):c.132A>T (p.Arg44Ser) http://identifiers.org/clinvar/304077 ^@ NM_000360.3(TH):c.627C>G (p.Ile209Met) http://identifiers.org/clinvar/367587 ^@ NM_000136.2(FANCC):c.*1339C>T http://identifiers.org/clinvar/362393 ^@ NM_177924.4(ASAH1):c.-219A>T http://identifiers.org/clinvar/304080 ^@ NM_000360.3(TH):c.363G>A (p.Pro121=) http://identifiers.org/clinvar/304081 ^@ NM_000360.3(TH):c.360G>A (p.Arg120=) http://identifiers.org/clinvar/367588 ^@ NM_000136.2(FANCC):c.*1332A>G http://identifiers.org/clinvar/304084 ^@ NM_000360.3(TH):c.252G>A (p.Leu84=) http://identifiers.org/clinvar/362398 ^@ NM_000237.2(LPL):c.-283G>T http://identifiers.org/clinvar/362402 ^@ NM_000237.2(LPL):c.-71C>G http://identifiers.org/clinvar/367589 ^@ NM_000136.2(FANCC):c.*1288T>C http://identifiers.org/clinvar/304087 ^@ NM_000360.3(TH):c.5C>T (p.Pro2Leu) http://identifiers.org/clinvar/367591 ^@ NM_000136.2(FANCC):c.*1262T>C http://identifiers.org/clinvar/362433 ^@ NM_000237.2(LPL):c.*884A>C http://identifiers.org/clinvar/362442 ^@ NM_000237.2(LPL):c.*1279G>A http://identifiers.org/clinvar/362449 ^@ NM_000237.2(LPL):c.*1783A>T http://identifiers.org/clinvar/367594 ^@ NM_000136.2(FANCC):c.*884C>T http://identifiers.org/clinvar/304090 ^@ NM_213599.2(ANO5):c.-217G>T http://identifiers.org/clinvar/362403 ^@ NM_000237.2(LPL):c.-49C>T http://identifiers.org/clinvar/304091 ^@ NM_213599.2(ANO5):c.-210G>C http://identifiers.org/clinvar/304094 ^@ NM_213599.2(ANO5):c.-65G>C http://identifiers.org/clinvar/304098 ^@ NM_213599.2(ANO5):c.138+10G>A http://identifiers.org/clinvar/362453 ^@ NM_000237.2(LPL):c.*1848C>A http://identifiers.org/clinvar/362455 ^@ NM_005144.4(HR):c.*1251dupT http://identifiers.org/clinvar/367595 ^@ NM_000136.2(FANCC):c.*825C>A http://identifiers.org/clinvar/304102 ^@ NM_213599.2(ANO5):c.1641A>C (p.Arg547=) http://identifiers.org/clinvar/362409 ^@ NM_000237.2(LPL):c.435G>A (p.Glu145=) http://identifiers.org/clinvar/304106 ^@ NM_213599.2(ANO5):c.2236-10_2236-7delTATT http://identifiers.org/clinvar/362410 ^@ NM_000237.2(LPL):c.478C>T (p.Leu160Phe) http://identifiers.org/clinvar/362415 ^@ NM_000237.2(LPL):c.1416_1417insT (p.Lys473Terfs) http://identifiers.org/clinvar/362419 ^@ NM_000237.2(LPL):c.*262G>A http://identifiers.org/clinvar/304114 ^@ NM_213599.2(ANO5):c.*106T>C http://identifiers.org/clinvar/304113 ^@ NM_213599.2(ANO5):c.*112_*113delTT http://identifiers.org/clinvar/304115 ^@ NM_213599.2(ANO5):c.*114_*115delCT http://identifiers.org/clinvar/362426 ^@ NM_000237.2(LPL):c.*677T>C http://identifiers.org/clinvar/362429 ^@ NM_000237.2(LPL):c.*824dupA http://identifiers.org/clinvar/367599 ^@ NM_000136.2(FANCC):c.*593C>G http://identifiers.org/clinvar/304117 ^@ NM_213599.2(ANO5):c.*185A>G http://identifiers.org/clinvar/304118 ^@ NM_213599.2(ANO5):c.*220G>A http://identifiers.org/clinvar/304120 ^@ NM_213599.2(ANO5):c.*305A>T http://identifiers.org/clinvar/304122 ^@ NM_213599.2(ANO5):c.*554C>T http://identifiers.org/clinvar/367603 ^@ NM_000136.2(FANCC):c.*338C>A http://identifiers.org/clinvar/367605 ^@ NM_000136.2(FANCC):c.*249C>T http://identifiers.org/clinvar/367614 ^@ NM_000136.2(FANCC):c.-246A>G http://identifiers.org/clinvar/304125 ^@ NM_213599.2(ANO5):c.*817A>G http://identifiers.org/clinvar/367617 ^@ NM_000264.3(PTCH1):c.*3272C>T http://identifiers.org/clinvar/367621 ^@ NM_000264.3(PTCH1):c.*3157G>A http://identifiers.org/clinvar/367631 ^@ NM_000264.3(PTCH1):c.*2070C>G http://identifiers.org/clinvar/362435 ^@ NM_000237.2(LPL):c.*1039G>A http://identifiers.org/clinvar/304126 ^@ NM_213599.2(ANO5):c.*930C>T http://identifiers.org/clinvar/362470 ^@ NM_005144.4(HR):c.*82G>T http://identifiers.org/clinvar/304133 ^@ NM_213599.2(ANO5):c.*1429A>G http://identifiers.org/clinvar/362473 ^@ NM_005144.4(HR):c.3544G>A (p.Val1182Met) http://identifiers.org/clinvar/362474 ^@ NM_005144.4(HR):c.3537G>A (p.Lys1179=) http://identifiers.org/clinvar/362484 ^@ NM_005144.4(HR):c.3049C>T (p.Leu1017=) http://identifiers.org/clinvar/362489 ^@ NM_005144.4(HR):c.2570G>A (p.Arg857His) http://identifiers.org/clinvar/362492 ^@ NM_005144.4(HR):c.2526A>C (p.Pro842=) http://identifiers.org/clinvar/362439 ^@ NM_000237.2(LPL):c.*1214G>T http://identifiers.org/clinvar/367633 ^@ NM_000264.3(PTCH1):c.*1901_*1904delGTGT http://identifiers.org/clinvar/304135 ^@ NM_213599.2(ANO5):c.*1647T>C http://identifiers.org/clinvar/304137 ^@ NM_213599.2(ANO5):c.*1666_*1669dupGAGT http://identifiers.org/clinvar/362446 ^@ NM_000237.2(LPL):c.*1563_*1567delATTAA http://identifiers.org/clinvar/304139 ^@ NM_213599.2(ANO5):c.*1712T>C http://identifiers.org/clinvar/304144 ^@ NM_213599.2(ANO5):c.*1967G>A http://identifiers.org/clinvar/304145 ^@ NM_213599.2(ANO5):c.*2095G>A http://identifiers.org/clinvar/367636 ^@ NM_000264.3(PTCH1):c.*1882_*1883dupTG http://identifiers.org/clinvar/304154 ^@ NM_213599.2(ANO5):c.*2752G>A http://identifiers.org/clinvar/304155 ^@ NM_213599.2(ANO5):c.*2784G>A http://identifiers.org/clinvar/362494 ^@ NM_005144.4(HR):c.2467G>A (p.Gly823Ser) http://identifiers.org/clinvar/362496 ^@ NM_005144.4(HR):c.2367+14C>T http://identifiers.org/clinvar/304158 ^@ NM_213599.2(ANO5):c.*2980T>C http://identifiers.org/clinvar/362497 ^@ NM_005144.4(HR):c.2367T>C (p.Ser789=) http://identifiers.org/clinvar/362502 ^@ NM_005144.4(HR):c.2203+6C>T http://identifiers.org/clinvar/362505 ^@ NM_005144.4(HR):c.2006-4C>T http://identifiers.org/clinvar/362514 ^@ NM_005144.4(HR):c.1517A>G (p.Glu506Gly) http://identifiers.org/clinvar/304164 ^@ NM_213599.2(ANO5):c.*3196A>G http://identifiers.org/clinvar/362515 ^@ NM_005144.4(HR):c.1507G>A (p.Ala503Thr) http://identifiers.org/clinvar/362516 ^@ NM_005144.4(HR):c.1484C>G (p.Ala495Gly) http://identifiers.org/clinvar/304167 ^@ NM_213599.2(ANO5):c.*3273G>C http://identifiers.org/clinvar/362450 ^@ NM_000237.2(LPL):c.*1806_*1807insTT http://identifiers.org/clinvar/362451 ^@ NM_000237.2(LPL):c.*1824T>C http://identifiers.org/clinvar/362452 ^@ NM_000237.2(LPL):c.*1846C>T http://identifiers.org/clinvar/362460 ^@ NM_005144.4(HR):c.*820G>A http://identifiers.org/clinvar/304168 ^@ NM_213599.2(ANO5):c.*3350T>G http://identifiers.org/clinvar/362465 ^@ NM_005144.4(HR):c.*294C>T http://identifiers.org/clinvar/367637 ^@ NM_000264.3(PTCH1):c.*1878_*1883dupTGTGTG http://identifiers.org/clinvar/367638 ^@ NM_000264.3(PTCH1):c.*1709G>A http://identifiers.org/clinvar/367641 ^@ NM_000264.3(PTCH1):c.*1648A>G http://identifiers.org/clinvar/367648 ^@ NM_000264.3(PTCH1):c.*1220A>G http://identifiers.org/clinvar/362524 ^@ NM_005144.4(HR):c.1055C>T (p.Ala352Val) http://identifiers.org/clinvar/362525 ^@ NM_005144.4(HR):c.1010G>A (p.Gly337Asp) http://identifiers.org/clinvar/362527 ^@ NM_005144.4(HR):c.956C>T (p.Pro319Leu) http://identifiers.org/clinvar/362528 ^@ NM_005144.4(HR):c.415C>T (p.Arg139Trp) http://identifiers.org/clinvar/362471 ^@ NM_005144.4(HR):c.*81C>T http://identifiers.org/clinvar/304177 ^@ NM_022725.3(FANCF):c.*1629C>T http://identifiers.org/clinvar/362472 ^@ NM_005144.4(HR):c.*30G>T http://identifiers.org/clinvar/304178 ^@ NM_022725.3(FANCF):c.*1535T>A http://identifiers.org/clinvar/362533 ^@ NM_005144.4(HR):c.37A>G (p.Thr13Ala) http://identifiers.org/clinvar/362534 ^@ NM_005144.4(HR):c.27G>A (p.Lys9=) http://identifiers.org/clinvar/362536 ^@ NM_005144.4(HR):c.-326G>A http://identifiers.org/clinvar/367649 ^@ NM_000264.3(PTCH1):c.*1075A>C http://identifiers.org/clinvar/362537 ^@ NM_005144.4(HR):c.-333T>C http://identifiers.org/clinvar/362475 ^@ NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) http://identifiers.org/clinvar/362476 ^@ NM_005144.4(HR):c.3340G>A (p.Gly1114Arg) http://identifiers.org/clinvar/362543 ^@ NM_005144.4(HR):c.-621T>C http://identifiers.org/clinvar/362477 ^@ NM_005144.4(HR):c.3339C>A (p.Pro1113=) http://identifiers.org/clinvar/362544 ^@ NM_003018.3(SFTPC):c.-134G>C http://identifiers.org/clinvar/362545 ^@ NM_003018.3(SFTPC):c.-92C>G http://identifiers.org/clinvar/362478 ^@ NM_005144.4(HR):c.3296G>T (p.Arg1099Leu) http://identifiers.org/clinvar/362479 ^@ NM_005144.4(HR):c.3250G>A (p.Ala1084Thr) http://identifiers.org/clinvar/367650 ^@ NM_000264.3(PTCH1):c.*1066A>C http://identifiers.org/clinvar/304183 ^@ NM_022725.3(FANCF):c.*1119T>A http://identifiers.org/clinvar/362481 ^@ NM_005144.4(HR):c.3213+10C>T http://identifiers.org/clinvar/304184 ^@ NM_022725.3(FANCF):c.*1094A>G http://identifiers.org/clinvar/367651 ^@ NM_000264.3(PTCH1):c.*851G>C http://identifiers.org/clinvar/367652 ^@ NM_000264.3(PTCH1):c.*801C>T http://identifiers.org/clinvar/367658 ^@ NM_000264.3(PTCH1):c.*556G>A http://identifiers.org/clinvar/362482 ^@ NM_005144.4(HR):c.3192C>T (p.Arg1064=) http://identifiers.org/clinvar/304187 ^@ NM_022725.3(FANCF):c.*708C>T http://identifiers.org/clinvar/304197 ^@ NM_022725.3(FANCF):c.*207C>T http://identifiers.org/clinvar/367660 ^@ NM_000264.3(PTCH1):c.*231T>C http://identifiers.org/clinvar/304200 ^@ NM_022725.3(FANCF):c.1006G>A (p.Asp336Asn) http://identifiers.org/clinvar/367661 ^@ NM_000264.3(PTCH1):c.*186T>G http://identifiers.org/clinvar/367666 ^@ NM_000264.3(PTCH1):c.2560+11G>A http://identifiers.org/clinvar/367670 ^@ NM_000264.3(PTCH1):c.1653G>A (p.Thr551=) http://identifiers.org/clinvar/367680 ^@ NM_000197.1(HSD17B3):c.489+9T>C http://identifiers.org/clinvar/362549 ^@ NM_003018.3(SFTPC):c.-23_-21delGAG http://identifiers.org/clinvar/362550 ^@ NM_003018.3(SFTPC):c.24C>G (p.Val8=) http://identifiers.org/clinvar/367681 ^@ NM_000197.1(HSD17B3):c.333C>T (p.Asp111=) http://identifiers.org/clinvar/367689 ^@ NM_000197.1(HSD17B3):c.-34C>T http://identifiers.org/clinvar/362551 ^@ NM_003018.3(SFTPC):c.42G>A (p.Pro14=) http://identifiers.org/clinvar/364059 ^@ NM_014290.2(TDRD7):c.391A>G (p.Asn131Asp) http://identifiers.org/clinvar/362556 ^@ NM_003018.3(SFTPC):c.228G>C (p.Pro76=) http://identifiers.org/clinvar/364061 ^@ NM_014290.2(TDRD7):c.582C>A (p.Ser194=) http://identifiers.org/clinvar/364066 ^@ NM_014290.2(TDRD7):c.912G>A (p.Lys304=) http://identifiers.org/clinvar/364068 ^@ NM_014290.2(TDRD7):c.1583C>T (p.Ala528Val) http://identifiers.org/clinvar/362487 ^@ NM_005144.4(HR):c.2733C>A (p.Ser911Arg) http://identifiers.org/clinvar/304202 ^@ NM_022725.3(FANCF):c.547G>C (p.Glu183Gln) http://identifiers.org/clinvar/362503 ^@ NM_005144.4(HR):c.2166C>T (p.Cys722=) http://identifiers.org/clinvar/362504 ^@ NM_005144.4(HR):c.2104G>T (p.Gly702Trp) http://identifiers.org/clinvar/304205 ^@ NM_022725.3(FANCF):c.261_263delTCA (p.His88del) http://identifiers.org/clinvar/362507 ^@ NM_005144.4(HR):c.1859G>A (p.Arg620Gln) http://identifiers.org/clinvar/362509 ^@ NM_005144.4(HR):c.1632C>T (p.Ser544=) http://identifiers.org/clinvar/304210 ^@ NM_022725.3(FANCF):c.-21A>G http://identifiers.org/clinvar/304213 ^@ NM_000218.2(KCNQ1):c.-38C>T http://identifiers.org/clinvar/304226 ^@ NM_000218.2(KCNQ1):c.1514+3G>A http://identifiers.org/clinvar/362559 ^@ NM_003018.3(SFTPC):c.439G>A (p.Glu147Lys) http://identifiers.org/clinvar/364070 ^@ NM_014290.2(TDRD7):c.1869A>G (p.Ser623=) http://identifiers.org/clinvar/304227 ^@ NM_000218.2(KCNQ1):c.1514+9C>T http://identifiers.org/clinvar/364073 ^@ NM_014290.2(TDRD7):c.2390A>G (p.Asn797Ser) http://identifiers.org/clinvar/362510 ^@ NM_005144.4(HR):c.1583A>G (p.Gln528Arg) http://identifiers.org/clinvar/364080 ^@ NM_014290.2(TDRD7):c.3129T>A (p.His1043Gln) http://identifiers.org/clinvar/304228 ^@ NM_000218.2(KCNQ1):c.1514+4974G>A http://identifiers.org/clinvar/364088 ^@ NM_000380.3(XPA):c.731A>G (p.His244Arg) http://identifiers.org/clinvar/362512 ^@ NM_005144.4(HR):c.1572G>A (p.Gly524=) http://identifiers.org/clinvar/362513 ^@ NM_005144.4(HR):c.1557-13G>A http://identifiers.org/clinvar/362517 ^@ NM_005144.4(HR):c.1461C>T (p.Cys487=) http://identifiers.org/clinvar/304232 ^@ NM_000218.2(KCNQ1):c.*26C>A http://identifiers.org/clinvar/304237 ^@ NM_000218.2(KCNQ1):c.*241G>A http://identifiers.org/clinvar/362561 ^@ NM_003018.3(SFTPC):c.523G>A (p.Gly175Arg) http://identifiers.org/clinvar/362563 ^@ NM_003018.3(SFTPC):c.570C>T (p.Gly190=) http://identifiers.org/clinvar/362568 ^@ NM_003018.3(SFTPC):c.*123G>A http://identifiers.org/clinvar/362570 ^@ NM_003018.3(SFTPC):c.*174G>A http://identifiers.org/clinvar/362571 ^@ NM_003018.3(SFTPC):c.*193C>A http://identifiers.org/clinvar/362574 ^@ NM_006129.4(BMP1):c.-126G>A http://identifiers.org/clinvar/362583 ^@ NM_006129.4(BMP1):c.1443+12G>C http://identifiers.org/clinvar/362584 ^@ NM_006129.4(BMP1):c.1519G>A (p.Gly507Arg) http://identifiers.org/clinvar/362585 ^@ NM_006129.4(BMP1):c.1623C>T (p.Ala541=) http://identifiers.org/clinvar/364091 ^@ NM_000380.3(XPA):c.-43G>A http://identifiers.org/clinvar/364093 ^@ NM_000380.3(XPA):c.-74A>C http://identifiers.org/clinvar/304240 ^@ NM_000218.2(KCNQ1):c.*292C>A http://identifiers.org/clinvar/304243 ^@ NM_000218.2(KCNQ1):c.*377delG http://identifiers.org/clinvar/364099 ^@ NM_004612.3(TGFBR1):c.490C>T (p.Pro164Ser) http://identifiers.org/clinvar/364101 ^@ NM_004612.3(TGFBR1):c.828C>G (p.Leu276=) http://identifiers.org/clinvar/304245 ^@ NM_000218.2(KCNQ1):c.*392A>C http://identifiers.org/clinvar/304246 ^@ NM_000218.2(KCNQ1):c.*398C>T http://identifiers.org/clinvar/364106 ^@ NM_004612.3(TGFBR1):c.*360A>G http://identifiers.org/clinvar/364112 ^@ NM_004612.3(TGFBR1):c.*884A>G http://identifiers.org/clinvar/364115 ^@ NM_004612.3(TGFBR1):c.*1250G>T http://identifiers.org/clinvar/364116 ^@ NM_004612.3(TGFBR1):c.*1269T>G http://identifiers.org/clinvar/304247 ^@ NM_000218.2(KCNQ1):c.*411C>T http://identifiers.org/clinvar/364118 ^@ NM_004612.3(TGFBR1):c.*1428G>C http://identifiers.org/clinvar/364122 ^@ NM_004612.3(TGFBR1):c.*1687A>G http://identifiers.org/clinvar/364126 ^@ NM_004612.3(TGFBR1):c.*1787T>C http://identifiers.org/clinvar/304248 ^@ NM_000218.2(KCNQ1):c.*464G>A http://identifiers.org/clinvar/362587 ^@ NM_006129.4(BMP1):c.1684C>T (p.Arg562Trp) http://identifiers.org/clinvar/304251 ^@ NM_000218.2(KCNQ1):c.*539G>C http://identifiers.org/clinvar/304257 ^@ NM_000218.2(KCNQ1):c.*717T>G http://identifiers.org/clinvar/362594 ^@ NM_006129.4(BMP1):c.2406C>T (p.Tyr802=) http://identifiers.org/clinvar/304258 ^@ NM_000218.2(KCNQ1):c.*731G>A http://identifiers.org/clinvar/364145 ^@ NM_004612.3(TGFBR1):c.*2410C>T http://identifiers.org/clinvar/362596 ^@ NM_006129.4(BMP1):c.2430G>T (p.Gly810=) http://identifiers.org/clinvar/304272 ^@ NM_000218.2(KCNQ1):c.*1088G>C http://identifiers.org/clinvar/304273 ^@ NM_000510.2(FSHB):c.-65C>G http://identifiers.org/clinvar/362523 ^@ NM_005144.4(HR):c.1190G>A (p.Cys397Tyr) http://identifiers.org/clinvar/362530 ^@ NM_005144.4(HR):c.184C>A (p.Pro62Thr) http://identifiers.org/clinvar/364146 ^@ NM_004612.3(TGFBR1):c.*2547A>G http://identifiers.org/clinvar/304274 ^@ NM_000510.2(FSHB):c.-35T>C http://identifiers.org/clinvar/304276 ^@ NM_000510.2(FSHB):c.59G>T (p.Ser20Ile) http://identifiers.org/clinvar/364147 ^@ NM_004612.3(TGFBR1):c.*2637_*2639delTCT http://identifiers.org/clinvar/364150 ^@ NM_004612.3(TGFBR1):c.*2703G>A http://identifiers.org/clinvar/362597 ^@ NM_006129.4(BMP1):c.2445C>T (p.Ala815=) http://identifiers.org/clinvar/362642 ^@ NM_006158.4(NEFL):c.*171C>G http://identifiers.org/clinvar/364151 ^@ NM_004612.3(TGFBR1):c.*2713G>T http://identifiers.org/clinvar/362646 ^@ NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) http://identifiers.org/clinvar/364160 ^@ NM_004612.3(TGFBR1):c.*3192T>C http://identifiers.org/clinvar/364161 ^@ NM_004612.3(TGFBR1):c.*3225G>A http://identifiers.org/clinvar/362649 ^@ NM_000825.3(GNRH1):c.250-12T>C http://identifiers.org/clinvar/362532 ^@ NM_005144.4(HR):c.85G>A (p.Gly29Ser) http://identifiers.org/clinvar/362650 ^@ NM_000825.3(GNRH1):c.249+8A>C http://identifiers.org/clinvar/364164 ^@ NM_004612.3(TGFBR1):c.*3286G>C http://identifiers.org/clinvar/304281 ^@ NM_000510.2(FSHB):c.*520C>G http://identifiers.org/clinvar/304284 ^@ NM_000510.2(FSHB):c.*663G>C http://identifiers.org/clinvar/364170 ^@ NM_004612.3(TGFBR1):c.*3482C>G http://identifiers.org/clinvar/304292 ^@ NM_000280.4(PAX6):c.*4627A>C http://identifiers.org/clinvar/304299 ^@ NM_000280.4(PAX6):c.*4076A>C http://identifiers.org/clinvar/362651 ^@ NM_000825.3(GNRH1):c.189A>G (p.Gln63=) http://identifiers.org/clinvar/362652 ^@ NM_000825.3(GNRH1):c.59G>C (p.Trp20Ser) http://identifiers.org/clinvar/362539 ^@ NM_005144.4(HR):c.-439A>G http://identifiers.org/clinvar/362557 ^@ NM_003018.3(SFTPC):c.288C>T (p.Ile96=) http://identifiers.org/clinvar/304300 ^@ NM_000280.4(PAX6):c.*4003G>T http://identifiers.org/clinvar/304308 ^@ NM_000280.4(PAX6):c.*3318A>G http://identifiers.org/clinvar/362558 ^@ NM_003018.3(SFTPC):c.351T>G (p.Pro117=) http://identifiers.org/clinvar/364172 ^@ NM_004612.3(TGFBR1):c.*3704A>G http://identifiers.org/clinvar/364185 ^@ NM_004612.3(TGFBR1):c.*4489T>C http://identifiers.org/clinvar/304316 ^@ NM_000280.4(PAX6):c.*2901T>C http://identifiers.org/clinvar/362562 ^@ NM_003018.3(SFTPC):c.541C>G (p.Leu181Val) http://identifiers.org/clinvar/362569 ^@ NM_003018.3(SFTPC):c.*173C>T http://identifiers.org/clinvar/304320 ^@ NM_000280.4(PAX6):c.*2705_*2707delAGC http://identifiers.org/clinvar/362572 ^@ NM_006129.4(BMP1):c.-247_-244delGGAG http://identifiers.org/clinvar/304337 ^@ NM_000280.4(PAX6):c.*1521C>T http://identifiers.org/clinvar/304339 ^@ NM_000280.4(PAX6):c.*1394A>C http://identifiers.org/clinvar/304340 ^@ NM_000280.4(PAX6):c.*1287A>T http://identifiers.org/clinvar/364189 ^@ NM_004612.3(TGFBR1):c.*4578T>G http://identifiers.org/clinvar/362656 ^@ NM_000825.3(GNRH1):c.-137G>A http://identifiers.org/clinvar/304341 ^@ NM_000280.4(PAX6):c.*1184A>T http://identifiers.org/clinvar/362573 ^@ NM_006129.4(BMP1):c.-170A>G http://identifiers.org/clinvar/362579 ^@ NM_006129.4(BMP1):c.433+12A>G http://identifiers.org/clinvar/362582 ^@ NM_006129.4(BMP1):c.1317G>A (p.Val439=) http://identifiers.org/clinvar/362588 ^@ NM_006129.4(BMP1):c.1766-5C>T http://identifiers.org/clinvar/364191 ^@ NM_004612.3(TGFBR1):c.*4728G>A http://identifiers.org/clinvar/364193 ^@ NM_004612.3(TGFBR1):c.*4793A>G http://identifiers.org/clinvar/364197 ^@ NM_033087.3(ALG2):c.*1260_*1263delATAT http://identifiers.org/clinvar/304342 ^@ NM_000280.4(PAX6):c.*1063A>G http://identifiers.org/clinvar/304359 ^@ NM_000280.4(PAX6):c.327G>A (p.Glu109=) http://identifiers.org/clinvar/364198 ^@ NM_033087.3(ALG2):c.*1154T>C http://identifiers.org/clinvar/304360 ^@ NM_000280.4(PAX6):c.142-8C>T http://identifiers.org/clinvar/304365 ^@ NM_000280.4(PAX6):c.-316-8C>G http://identifiers.org/clinvar/362590 ^@ NM_006129.4(BMP1):c.2075C>T (p.Ser692Phe) http://identifiers.org/clinvar/364208 ^@ NM_033087.3(ALG2):c.484A>G (p.Ile162Val) http://identifiers.org/clinvar/304374 ^@ NM_024426.4(WT1):c.*1132A>T http://identifiers.org/clinvar/304375 ^@ NM_024426.4(WT1):c.*1098C>T http://identifiers.org/clinvar/362592 ^@ NM_006129.4(BMP1):c.2155G>A (p.Val719Ile) http://identifiers.org/clinvar/304376 ^@ NM_024426.4(WT1):c.*1058G>T http://identifiers.org/clinvar/364209 ^@ NM_033087.3(ALG2):c.472C>A (p.Pro158Thr) http://identifiers.org/clinvar/304380 ^@ NM_024426.4(WT1):c.*1053_*1054dupGT http://identifiers.org/clinvar/364213 ^@ NM_033087.3(ALG2):c.159C>T (p.His53=) http://identifiers.org/clinvar/362602 ^@ NM_006129.4(BMP1):c.2640C>A (p.Gly880=) http://identifiers.org/clinvar/362672 ^@ NM_000742.3(CHRNA2):c.*1286delC http://identifiers.org/clinvar/304385 ^@ NM_024426.4(WT1):c.*897G>C http://identifiers.org/clinvar/364215 ^@ NM_033087.3(ALG2):c.-52T>A http://identifiers.org/clinvar/298485 ^@ NM_021830.4(TWNK):c.-644A>T http://identifiers.org/clinvar/304387 ^@ NM_024426.4(WT1):c.*864T>A http://identifiers.org/clinvar/304389 ^@ NM_024426.4(WT1):c.*835A>G http://identifiers.org/clinvar/298491 ^@ NM_021830.4(TWNK):c.-290G>C http://identifiers.org/clinvar/362603 ^@ NM_006129.4(BMP1):c.2688C>T (p.Ala896=) http://identifiers.org/clinvar/298507 ^@ NM_021830.4(TWNK):c.*301C>T http://identifiers.org/clinvar/362613 ^@ NM_006129.4(BMP1):c.*452A>C http://identifiers.org/clinvar/362614 ^@ NM_006129.4(BMP1):c.*513A>G http://identifiers.org/clinvar/362673 ^@ NM_000742.3(CHRNA2):c.*1159T>C http://identifiers.org/clinvar/362677 ^@ NM_000742.3(CHRNA2):c.*1003G>A http://identifiers.org/clinvar/304395 ^@ NM_024426.4(WT1):c.*685G>T http://identifiers.org/clinvar/304397 ^@ NM_024426.4(WT1):c.*614A>C http://identifiers.org/clinvar/304415 ^@ NM_024426.4(WT1):c.*110C>T http://identifiers.org/clinvar/298510 ^@ NM_021830.4(TWNK):c.*438G>C http://identifiers.org/clinvar/298526 ^@ NM_022039.3(FBXW4):c.*233G>T http://identifiers.org/clinvar/304421 ^@ NM_024426.4(WT1):c.872+4G>A http://identifiers.org/clinvar/298528 ^@ NM_022039.3(FBXW4):c.1192G>A (p.Ala398Thr) http://identifiers.org/clinvar/298548 ^@ NM_022039.3(FBXW4):c.-274G>A http://identifiers.org/clinvar/362615 ^@ NM_006158.4(NEFL):c.*1806T>C http://identifiers.org/clinvar/362616 ^@ NM_006158.4(NEFL):c.*1744T>C http://identifiers.org/clinvar/362619 ^@ NM_006158.4(NEFL):c.*1482C>T http://identifiers.org/clinvar/362682 ^@ NM_000742.3(CHRNA2):c.*755G>A http://identifiers.org/clinvar/298549 ^@ NM_022039.3(FBXW4):c.-332C>T http://identifiers.org/clinvar/362683 ^@ NM_000742.3(CHRNA2):c.*721G>T http://identifiers.org/clinvar/304424 ^@ NM_024426.4(WT1):c.375A>G (p.Pro125=) http://identifiers.org/clinvar/304429 ^@ NM_024426.4(WT1):c.147C>G (p.Ser49Arg) http://identifiers.org/clinvar/362684 ^@ NM_000742.3(CHRNA2):c.*623G>A http://identifiers.org/clinvar/362686 ^@ NM_000742.3(CHRNA2):c.*511G>C http://identifiers.org/clinvar/362620 ^@ NM_006158.4(NEFL):c.*1349T>G http://identifiers.org/clinvar/304433 ^@ NM_024426.4(WT1):c.-97A>C http://identifiers.org/clinvar/304437 ^@ NM_024426.4(WT1):c.-117C>A http://identifiers.org/clinvar/304439 ^@ NM_024426.4(WT1):c.-125C>T http://identifiers.org/clinvar/304440 ^@ NM_024426.4(WT1):c.-129T>A http://identifiers.org/clinvar/362622 ^@ NM_006158.4(NEFL):c.*1340_*1342delGAA http://identifiers.org/clinvar/362627 ^@ NM_006158.4(NEFL):c.*1107C>T http://identifiers.org/clinvar/362645 ^@ NM_006158.4(NEFL):c.*51A>G http://identifiers.org/clinvar/362654 ^@ NM_000825.3(GNRH1):c.-99A>G http://identifiers.org/clinvar/304441 ^@ NM_024426.4(WT1):c.-150G>A http://identifiers.org/clinvar/362655 ^@ NM_000825.3(GNRH1):c.-129G>A http://identifiers.org/clinvar/362694 ^@ NM_000742.3(CHRNA2):c.1163A>G (p.Glu388Gly) http://identifiers.org/clinvar/304445 ^@ NM_003477.2(PDHX):c.-390G>A http://identifiers.org/clinvar/304446 ^@ NM_003477.2(PDHX):c.-371G>A http://identifiers.org/clinvar/362701 ^@ NM_000742.3(CHRNA2):c.-133C>T http://identifiers.org/clinvar/304453 ^@ NM_003477.2(PDHX):c.-208C>T http://identifiers.org/clinvar/304463 ^@ NM_003477.2(PDHX):c.301A>G (p.Thr101Ala) http://identifiers.org/clinvar/362663 ^@ NM_000742.3(CHRNA2):c.*1845A>T http://identifiers.org/clinvar/304465 ^@ NM_003477.2(PDHX):c.511G>A (p.Val171Ile) http://identifiers.org/clinvar/304466 ^@ NM_003477.2(PDHX):c.532G>A (p.Gly178Arg) http://identifiers.org/clinvar/362705 ^@ NM_000742.3(CHRNA2):c.-379T>C http://identifiers.org/clinvar/298551 ^@ NM_024747.5(HPS6):c.138G>A (p.Leu46=) http://identifiers.org/clinvar/298554 ^@ NM_024747.5(HPS6):c.398C>T (p.Ala133Val) http://identifiers.org/clinvar/362706 ^@ NM_000742.3(CHRNA2):c.-422G>A http://identifiers.org/clinvar/362708 ^@ NM_000742.3(CHRNA2):c.-447T>A http://identifiers.org/clinvar/298556 ^@ NM_024747.5(HPS6):c.1039G>A (p.Val347Ile) http://identifiers.org/clinvar/298560 ^@ NM_024747.5(HPS6):c.2181A>G (p.Ala727=) http://identifiers.org/clinvar/298561 ^@ NM_024747.5(HPS6):c.2231G>T (p.Gly744Val) http://identifiers.org/clinvar/362671 ^@ NM_000742.3(CHRNA2):c.*1384C>T http://identifiers.org/clinvar/304467 ^@ NM_003477.2(PDHX):c.542+10T>C http://identifiers.org/clinvar/362674 ^@ NM_000742.3(CHRNA2):c.*1096C>G http://identifiers.org/clinvar/298562 ^@ NM_024747.5(HPS6):c.2307G>A (p.Pro769=) http://identifiers.org/clinvar/298564 ^@ NM_016169.3(SUFU):c.-178C>T http://identifiers.org/clinvar/362714 ^@ NM_000742.3(CHRNA2):c.-561A>T http://identifiers.org/clinvar/304468 ^@ NM_003477.2(PDHX):c.577G>C (p.Glu193Gln) http://identifiers.org/clinvar/362715 ^@ NM_000742.3(CHRNA2):c.-563_-562dupTG http://identifiers.org/clinvar/304469 ^@ NM_003477.2(PDHX):c.585C>G (p.His195Gln) http://identifiers.org/clinvar/362721 ^@ NM_000742.3(CHRNA2):c.-578A>G http://identifiers.org/clinvar/362728 ^@ NM_001017420.2(ESCO2):c.-38C>G http://identifiers.org/clinvar/362675 ^@ NM_000742.3(CHRNA2):c.*1024_*1026delAGA http://identifiers.org/clinvar/362678 ^@ NM_000742.3(CHRNA2):c.*997C>G http://identifiers.org/clinvar/362685 ^@ NM_000742.3(CHRNA2):c.*602T>C http://identifiers.org/clinvar/362731 ^@ NM_001017420.2(ESCO2):c.317G>A (p.Arg106Lys) http://identifiers.org/clinvar/304472 ^@ NM_003477.2(PDHX):c.841A>G (p.Ser281Gly) http://identifiers.org/clinvar/304473 ^@ NM_003477.2(PDHX):c.858T>C (p.Val286=) http://identifiers.org/clinvar/304482 ^@ NM_003477.2(PDHX):c.*644C>A http://identifiers.org/clinvar/362687 ^@ NM_000742.3(CHRNA2):c.*479G>C http://identifiers.org/clinvar/362692 ^@ NM_000742.3(CHRNA2):c.*29G>A http://identifiers.org/clinvar/298574 ^@ NM_016169.3(SUFU):c.910+14C>T http://identifiers.org/clinvar/304486 ^@ NM_003477.2(PDHX):c.*890T>C http://identifiers.org/clinvar/298575 ^@ NM_016169.3(SUFU):c.*61G>A http://identifiers.org/clinvar/362697 ^@ NM_000742.3(CHRNA2):c.260G>A (p.Arg87His) http://identifiers.org/clinvar/298576 ^@ NM_016169.3(SUFU):c.*118C>T http://identifiers.org/clinvar/362736 ^@ NM_001017420.2(ESCO2):c.915G>A (p.Glu305=) http://identifiers.org/clinvar/362740 ^@ NM_001017420.2(ESCO2):c.1105A>G (p.Lys369Glu) http://identifiers.org/clinvar/362749 ^@ NM_001017420.2(ESCO2):c.*80delT http://identifiers.org/clinvar/362755 ^@ NM_001017420.2(ESCO2):c.*124_*129delACACAC http://identifiers.org/clinvar/298586 ^@ NM_016169.3(SUFU):c.*1104C>T http://identifiers.org/clinvar/362750 ^@ NM_001017420.2(ESCO2):c.*128_*129dupAC http://identifiers.org/clinvar/304498 ^@ NM_000448.2(RAG1):c.739C>T (p.Arg247Cys) http://identifiers.org/clinvar/362698 ^@ NM_000742.3(CHRNA2):c.203G>C (p.Arg68Pro) http://identifiers.org/clinvar/304505 ^@ NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) http://identifiers.org/clinvar/362757 ^@ NM_001017420.2(ESCO2):c.*130G>A http://identifiers.org/clinvar/362759 ^@ NM_001017420.2(ESCO2):c.*155T>G http://identifiers.org/clinvar/304509 ^@ NM_000448.2(RAG1):c.*200C>T http://identifiers.org/clinvar/298592 ^@ NM_016169.3(SUFU):c.*1672A>G http://identifiers.org/clinvar/362702 ^@ NM_000742.3(CHRNA2):c.-136-14T>C http://identifiers.org/clinvar/362704 ^@ NM_000742.3(CHRNA2):c.-312G>T http://identifiers.org/clinvar/362763 ^@ NM_001017420.2(ESCO2):c.*363C>A http://identifiers.org/clinvar/304511 ^@ NM_000448.2(RAG1):c.*344G>A http://identifiers.org/clinvar/362707 ^@ NM_000742.3(CHRNA2):c.-424C>T http://identifiers.org/clinvar/304520 ^@ NM_000448.2(RAG1):c.*1083C>T http://identifiers.org/clinvar/362764 ^@ NM_001017420.2(ESCO2):c.*425G>A http://identifiers.org/clinvar/298608 ^@ NM_016169.3(SUFU):c.*2720C>T http://identifiers.org/clinvar/298611 ^@ NM_016169.3(SUFU):c.*3086A>G http://identifiers.org/clinvar/362766 ^@ NM_001017420.2(ESCO2):c.*481delT http://identifiers.org/clinvar/298617 ^@ NM_000102.3(CYP17A1):c.*67C>A http://identifiers.org/clinvar/298621 ^@ NM_000102.3(CYP17A1):c.847G>C (p.Asp283His) http://identifiers.org/clinvar/362765 ^@ NM_001017420.2(ESCO2):c.*481dupT http://identifiers.org/clinvar/362709 ^@ NM_000742.3(CHRNA2):c.-448G>A http://identifiers.org/clinvar/362771 ^@ NM_000553.4(WRN):c.-699G>C http://identifiers.org/clinvar/304521 ^@ NM_000448.2(RAG1):c.*1101G>A http://identifiers.org/clinvar/304524 ^@ NM_000448.2(RAG1):c.*1562A>G http://identifiers.org/clinvar/304527 ^@ NM_000448.2(RAG1):c.*1705A>G http://identifiers.org/clinvar/304531 ^@ NM_000448.2(RAG1):c.*2308G>A http://identifiers.org/clinvar/298623 ^@ NM_000102.3(CYP17A1):c.298-11G>C http://identifiers.org/clinvar/298624 ^@ NM_000102.3(CYP17A1):c.195G>T (p.Ser65=) http://identifiers.org/clinvar/298625 ^@ NM_000102.3(CYP17A1):c.138C>T (p.His46=) http://identifiers.org/clinvar/304535 ^@ NM_000448.2(RAG1):c.*2705dupT http://identifiers.org/clinvar/362716 ^@ NM_000742.3(CHRNA2):c.-563T>A http://identifiers.org/clinvar/304536 ^@ NM_000448.2(RAG1):c.*2940_*2943delTAAG http://identifiers.org/clinvar/298630 ^@ NM_000102.3(CYP17A1):c.-34T>C http://identifiers.org/clinvar/362774 ^@ NM_000553.4(WRN):c.-636G>C http://identifiers.org/clinvar/298631 ^@ NM_000102.3(CYP17A1):c.-166G>C http://identifiers.org/clinvar/304546 ^@ NM_000536.3(RAG2):c.*136A>C http://identifiers.org/clinvar/304554 ^@ NM_000536.3(RAG2):c.862A>G (p.Asn288Asp) http://identifiers.org/clinvar/362717 ^@ NM_000742.3(CHRNA2):c.-565T>A http://identifiers.org/clinvar/362718 ^@ NM_000742.3(CHRNA2):c.-578_-573delATGTGT http://identifiers.org/clinvar/362723 ^@ NM_000742.3(CHRNA2):c.-582_-579dupGTGT http://identifiers.org/clinvar/362776 ^@ NM_000553.4(WRN):c.-605C>A http://identifiers.org/clinvar/298632 ^@ NM_017649.4(CNNM2):c.-110A>T http://identifiers.org/clinvar/304562 ^@ NM_000536.3(RAG2):c.-151A>C http://identifiers.org/clinvar/304564 ^@ NM_207122.1(EXT2):c.-311G>A http://identifiers.org/clinvar/362724 ^@ NM_000742.3(CHRNA2):c.-584_-579dupGTGTGT http://identifiers.org/clinvar/362729 ^@ NM_001017420.2(ESCO2):c.-33C>T http://identifiers.org/clinvar/362778 ^@ NM_000553.4(WRN):c.-437C>T http://identifiers.org/clinvar/304566 ^@ NM_207122.1(EXT2):c.-197C>G http://identifiers.org/clinvar/298637 ^@ NM_017649.4(CNNM2):c.342G>T (p.Thr114=) http://identifiers.org/clinvar/304567 ^@ NM_207122.1(EXT2):c.-148G>A http://identifiers.org/clinvar/304568 ^@ NM_207122.1(EXT2):c.-61C>G http://identifiers.org/clinvar/362732 ^@ NM_001017420.2(ESCO2):c.325T>C (p.Cys109Arg) http://identifiers.org/clinvar/304583 ^@ NM_207122.1(EXT2):c.965G>A (p.Arg322His) http://identifiers.org/clinvar/304587 ^@ NM_207122.1(EXT2):c.1109T>C (p.Met370Thr) http://identifiers.org/clinvar/362779 ^@ NM_000553.4(WRN):c.-408C>T http://identifiers.org/clinvar/304589 ^@ NM_207122.1(EXT2):c.1291G>A (p.Asp431Asn) http://identifiers.org/clinvar/304591 ^@ NM_207122.1(EXT2):c.1761G>A (p.Thr587=) http://identifiers.org/clinvar/362780 ^@ NM_000553.4(WRN):c.-380G>A http://identifiers.org/clinvar/362783 ^@ NM_000553.4(WRN):c.-289dupG http://identifiers.org/clinvar/298640 ^@ NM_017649.4(CNNM2):c.801C>T (p.Cys267=) http://identifiers.org/clinvar/304596 ^@ NM_207122.1(EXT2):c.*93G>A http://identifiers.org/clinvar/298642 ^@ NM_017649.4(CNNM2):c.1515C>T (p.Pro505=) http://identifiers.org/clinvar/362733 ^@ NM_001017420.2(ESCO2):c.447A>G (p.Gln149=) http://identifiers.org/clinvar/304598 ^@ NM_207122.1(EXT2):c.*129C>G http://identifiers.org/clinvar/304600 ^@ NM_207122.1(EXT2):c.*368C>T http://identifiers.org/clinvar/304604 ^@ NM_207122.1(EXT2):c.*731A>G http://identifiers.org/clinvar/298651 ^@ NM_017649.4(CNNM2):c.*3C>T http://identifiers.org/clinvar/298653 ^@ NM_017649.4(CNNM2):c.*53G>A http://identifiers.org/clinvar/298660 ^@ NM_017649.4(CNNM2):c.*690C>T http://identifiers.org/clinvar/362787 ^@ NM_000553.4(WRN):c.-240G>A http://identifiers.org/clinvar/304627 ^@ NM_021926.3(ALX4):c.*3012C>G http://identifiers.org/clinvar/298671 ^@ NM_000494.3(COL17A1):c.*749delA http://identifiers.org/clinvar/304635 ^@ NM_021926.3(ALX4):c.*2668T>C http://identifiers.org/clinvar/304638 ^@ NM_021926.3(ALX4):c.*2479T>C http://identifiers.org/clinvar/304651 ^@ NM_021926.3(ALX4):c.*1710T>C http://identifiers.org/clinvar/298677 ^@ NM_000494.3(COL17A1):c.*74G>T http://identifiers.org/clinvar/298679 ^@ NM_000494.3(COL17A1):c.*57G>A http://identifiers.org/clinvar/362737 ^@ NM_001017420.2(ESCO2):c.1013+7A>G http://identifiers.org/clinvar/304652 ^@ NM_021926.3(ALX4):c.*1699G>T http://identifiers.org/clinvar/362791 ^@ NM_000553.4(WRN):c.-197C>T http://identifiers.org/clinvar/304658 ^@ NM_021926.3(ALX4):c.*1444G>C http://identifiers.org/clinvar/304660 ^@ NM_021926.3(ALX4):c.*1365C>A http://identifiers.org/clinvar/362792 ^@ NM_000553.4(WRN):c.-163C>G http://identifiers.org/clinvar/304662 ^@ NM_021926.3(ALX4):c.*1346delG http://identifiers.org/clinvar/362745 ^@ NM_001017420.2(ESCO2):c.1735C>A (p.Pro579Thr) http://identifiers.org/clinvar/304663 ^@ NM_021926.3(ALX4):c.*1345G>A http://identifiers.org/clinvar/298682 ^@ NM_000494.3(COL17A1):c.4317C>G (p.Pro1439=) http://identifiers.org/clinvar/304667 ^@ NM_021926.3(ALX4):c.*1131T>C http://identifiers.org/clinvar/362795 ^@ NM_000553.4(WRN):c.421G>A (p.Glu141Lys) http://identifiers.org/clinvar/362796 ^@ NM_000553.4(WRN):c.725-3delT http://identifiers.org/clinvar/298684 ^@ NM_000494.3(COL17A1):c.4296T>C (p.Thr1432=) http://identifiers.org/clinvar/304669 ^@ NM_021926.3(ALX4):c.*1088G>A http://identifiers.org/clinvar/298686 ^@ NM_000494.3(COL17A1):c.4100T>C (p.Phe1367Ser) http://identifiers.org/clinvar/298689 ^@ NM_000494.3(COL17A1):c.4033G>A (p.Gly1345Arg) http://identifiers.org/clinvar/298699 ^@ NM_000494.3(COL17A1):c.3206G>A (p.Arg1069Gln) http://identifiers.org/clinvar/362799 ^@ NM_000553.4(WRN):c.1155G>A (p.Glu385=) http://identifiers.org/clinvar/298700 ^@ NM_000494.3(COL17A1):c.3190G>A (p.Val1064Ile) http://identifiers.org/clinvar/304679 ^@ NM_021926.3(ALX4):c.*902G>A http://identifiers.org/clinvar/298704 ^@ NM_000494.3(COL17A1):c.2764C>A (p.Pro922Thr) http://identifiers.org/clinvar/362800 ^@ NM_000553.4(WRN):c.1466C>T (p.Pro489Leu) http://identifiers.org/clinvar/362753 ^@ NM_001017420.2(ESCO2):c.*120_*129dupACACACACAC http://identifiers.org/clinvar/298708 ^@ NM_000494.3(COL17A1):c.2636G>A (p.Arg879Gln) http://identifiers.org/clinvar/362805 ^@ NM_000553.4(WRN):c.2128A>G (p.Ile710Val) http://identifiers.org/clinvar/362809 ^@ NM_000553.4(WRN):c.2959C>T (p.Arg987Ter) http://identifiers.org/clinvar/362812 ^@ NM_000553.4(WRN):c.3323A>C (p.Lys1108Thr) http://identifiers.org/clinvar/304681 ^@ NM_021926.3(ALX4):c.*867C>T http://identifiers.org/clinvar/304685 ^@ NM_021926.3(ALX4):c.*563C>T http://identifiers.org/clinvar/304695 ^@ NM_021926.3(ALX4):c.*156G>A http://identifiers.org/clinvar/304699 ^@ NM_021926.3(ALX4):c.1185C>G (p.Ala395=) http://identifiers.org/clinvar/362754 ^@ NM_001017420.2(ESCO2):c.*126_*129delACAC http://identifiers.org/clinvar/362751 ^@ NM_001017420.2(ESCO2):c.*126_*129dupACAC http://identifiers.org/clinvar/362814 ^@ NM_000553.4(WRN):c.3819+14T>C http://identifiers.org/clinvar/362815 ^@ NM_000553.4(WRN):c.3972C>T (p.Pro1324=) http://identifiers.org/clinvar/362758 ^@ NM_001017420.2(ESCO2):c.*141T>C http://identifiers.org/clinvar/362760 ^@ NM_001017420.2(ESCO2):c.*172G>C http://identifiers.org/clinvar/362761 ^@ NM_001017420.2(ESCO2):c.*222T>C http://identifiers.org/clinvar/362818 ^@ NM_000553.4(WRN):c.*458T>A http://identifiers.org/clinvar/298711 ^@ NM_000494.3(COL17A1):c.2451C>T (p.Leu817=) http://identifiers.org/clinvar/362767 ^@ NM_001017420.2(ESCO2):c.*471T>A http://identifiers.org/clinvar/298712 ^@ NM_000494.3(COL17A1):c.2444C>T (p.Ser815Leu) http://identifiers.org/clinvar/298715 ^@ NM_000494.3(COL17A1):c.2362+7C>T http://identifiers.org/clinvar/362773 ^@ NM_000553.4(WRN):c.-677G>T http://identifiers.org/clinvar/298721 ^@ NM_000494.3(COL17A1):c.2038+9G>T http://identifiers.org/clinvar/362822 ^@ NM_000553.4(WRN):c.*570A>G http://identifiers.org/clinvar/304705 ^@ NM_021926.3(ALX4):c.728C>T (p.Ala243Val) http://identifiers.org/clinvar/362782 ^@ NM_000553.4(WRN):c.-295_-294insG http://identifiers.org/clinvar/304712 ^@ NM_021926.3(ALX4):c.280C>T (p.Pro94Ser) http://identifiers.org/clinvar/304713 ^@ NM_021926.3(ALX4):c.217C>T (p.Leu73=) http://identifiers.org/clinvar/362785 ^@ NM_000553.4(WRN):c.-284dupG http://identifiers.org/clinvar/304719 ^@ NM_018389.4(SLC35C1):c.-678A>G http://identifiers.org/clinvar/304721 ^@ NM_018389.4(SLC35C1):c.-657C>A http://identifiers.org/clinvar/362824 ^@ NM_000553.4(WRN):c.*626A>G http://identifiers.org/clinvar/298724 ^@ NM_000494.3(COL17A1):c.1761T>C (p.Pro587=) http://identifiers.org/clinvar/362826 ^@ NM_000349.2(STAR):c.*1524A>G http://identifiers.org/clinvar/298726 ^@ NM_000494.3(COL17A1):c.1687+15G>T http://identifiers.org/clinvar/362788 ^@ NM_000553.4(WRN):c.-234T>A http://identifiers.org/clinvar/298729 ^@ NM_000494.3(COL17A1):c.1590G>A (p.Ala530=) http://identifiers.org/clinvar/304725 ^@ NM_018389.4(SLC35C1):c.-569C>T http://identifiers.org/clinvar/304746 ^@ NM_018389.4(SLC35C1):c.*72G>A http://identifiers.org/clinvar/298730 ^@ NM_000494.3(COL17A1):c.1587C>T (p.Pro529=) http://identifiers.org/clinvar/298731 ^@ NM_000494.3(COL17A1):c.1557A>C (p.Ile519=) http://identifiers.org/clinvar/298735 ^@ NM_000494.3(COL17A1):c.1355C>T (p.Ala452Val) http://identifiers.org/clinvar/362802 ^@ NM_000553.4(WRN):c.1831A>G (p.Met611Val) http://identifiers.org/clinvar/362813 ^@ NM_000553.4(WRN):c.3343T>A (p.Cys1115Ser) http://identifiers.org/clinvar/304747 ^@ NM_018389.4(SLC35C1):c.*244G>A http://identifiers.org/clinvar/304751 ^@ NM_018389.4(SLC35C1):c.*572C>T http://identifiers.org/clinvar/362819 ^@ NM_000553.4(WRN):c.*511C>T http://identifiers.org/clinvar/362820 ^@ NM_000553.4(WRN):c.*543C>G http://identifiers.org/clinvar/362827 ^@ NM_000349.2(STAR):c.*1384delT http://identifiers.org/clinvar/304752 ^@ NM_018389.4(SLC35C1):c.*647T>C http://identifiers.org/clinvar/362828 ^@ NM_000349.2(STAR):c.*1122T>A http://identifiers.org/clinvar/362823 ^@ NM_000553.4(WRN):c.*588A>G http://identifiers.org/clinvar/304753 ^@ NM_018389.4(SLC35C1):c.*650C>A http://identifiers.org/clinvar/304756 ^@ NM_018389.4(SLC35C1):c.*1156C>T http://identifiers.org/clinvar/298736 ^@ NM_000494.3(COL17A1):c.1339G>T (p.Gly447Cys) http://identifiers.org/clinvar/304757 ^@ NM_018389.4(SLC35C1):c.*1158C>T http://identifiers.org/clinvar/304760 ^@ NM_018389.4(SLC35C1):c.*1315C>T http://identifiers.org/clinvar/362825 ^@ NM_000349.2(STAR):c.*1543C>A http://identifiers.org/clinvar/304766 ^@ NM_018389.4(SLC35C1):c.*1569G>C http://identifiers.org/clinvar/304767 ^@ NM_018389.4(SLC35C1):c.*1583dupC http://identifiers.org/clinvar/362830 ^@ NM_000349.2(STAR):c.*981A>G http://identifiers.org/clinvar/304771 ^@ NM_018389.4(SLC35C1):c.*1636G>T http://identifiers.org/clinvar/304773 ^@ NM_004813.2(PEX16):c.*557G>C http://identifiers.org/clinvar/362829 ^@ NM_000349.2(STAR):c.*987A>G http://identifiers.org/clinvar/298739 ^@ NM_000494.3(COL17A1):c.1306G>A (p.Gly436Arg) http://identifiers.org/clinvar/362835 ^@ NM_000349.2(STAR):c.*818G>A http://identifiers.org/clinvar/362842 ^@ NM_000349.2(STAR):c.*93C>T http://identifiers.org/clinvar/362849 ^@ NM_000349.2(STAR):c.153G>A (p.Gln51=) http://identifiers.org/clinvar/304776 ^@ NM_004813.2(PEX16):c.*376G>C http://identifiers.org/clinvar/304777 ^@ NM_004813.2(PEX16):c.*376G>A http://identifiers.org/clinvar/362832 ^@ NM_000349.2(STAR):c.*967delA http://identifiers.org/clinvar/362833 ^@ NM_000349.2(STAR):c.*948delC http://identifiers.org/clinvar/298755 ^@ NM_000494.3(COL17A1):c.97+11A>T http://identifiers.org/clinvar/304780 ^@ NM_004813.2(PEX16):c.*309G>C http://identifiers.org/clinvar/298758 ^@ NM_005445.3(SMC3):c.-115T>C http://identifiers.org/clinvar/298760 ^@ NM_005445.3(SMC3):c.-92G>T http://identifiers.org/clinvar/298763 ^@ NM_005445.3(SMC3):c.276T>C (p.Asp92=) http://identifiers.org/clinvar/362844 ^@ NM_000349.2(STAR):c.504C>T (p.His168=) http://identifiers.org/clinvar/304782 ^@ NM_004813.2(PEX16):c.*277C>T http://identifiers.org/clinvar/362859 ^@ NM_023110.2(FGFR1):c.*2099T>G http://identifiers.org/clinvar/304791 ^@ NM_004813.2(PEX16):c.694+11C>T http://identifiers.org/clinvar/362853 ^@ NM_000349.2(STAR):c.-255G>T http://identifiers.org/clinvar/362854 ^@ NM_023110.2(FGFR1):c.*2434C>T http://identifiers.org/clinvar/362856 ^@ NM_023110.2(FGFR1):c.*2391A>G http://identifiers.org/clinvar/304801 ^@ NM_004813.2(PEX16):c.-265C>T http://identifiers.org/clinvar/362861 ^@ NM_023110.2(FGFR1):c.*1965G>A http://identifiers.org/clinvar/362864 ^@ NM_023110.2(FGFR1):c.*1632A>G http://identifiers.org/clinvar/362872 ^@ NM_023110.2(FGFR1):c.*1144G>A http://identifiers.org/clinvar/304805 ^@ NM_000506.4(F2):c.45G>A (p.Leu15=) http://identifiers.org/clinvar/304806 ^@ NM_000506.4(F2):c.79+7G>A http://identifiers.org/clinvar/362860 ^@ NM_023110.2(FGFR1):c.*2057C>T http://identifiers.org/clinvar/362867 ^@ NM_023110.2(FGFR1):c.*1498C>T http://identifiers.org/clinvar/362874 ^@ NM_023110.2(FGFR1):c.*1026T>C http://identifiers.org/clinvar/362868 ^@ NM_023110.2(FGFR1):c.*1439T>C http://identifiers.org/clinvar/298764 ^@ NM_005445.3(SMC3):c.369C>T (p.Asn123=) http://identifiers.org/clinvar/362880 ^@ NM_023110.2(FGFR1):c.*762A>G http://identifiers.org/clinvar/362882 ^@ NM_023110.2(FGFR1):c.*569C>T http://identifiers.org/clinvar/304807 ^@ NM_000506.4(F2):c.317-4G>A http://identifiers.org/clinvar/304811 ^@ NM_000506.4(F2):c.813C>T (p.Gly271=) http://identifiers.org/clinvar/362875 ^@ NM_023110.2(FGFR1):c.*963C>T http://identifiers.org/clinvar/304812 ^@ NM_000506.4(F2):c.882C>T (p.Ala294=) http://identifiers.org/clinvar/304821 ^@ NM_000506.4(F2):c.1628G>T (p.Arg543Leu) http://identifiers.org/clinvar/304828 ^@ NM_002334.3(LRP4):c.*1727G>A http://identifiers.org/clinvar/362884 ^@ NM_023110.2(FGFR1):c.*313T>G http://identifiers.org/clinvar/362877 ^@ NM_023110.2(FGFR1):c.*913G>A http://identifiers.org/clinvar/362878 ^@ NM_023110.2(FGFR1):c.*906A>T http://identifiers.org/clinvar/362879 ^@ NM_023110.2(FGFR1):c.*845T>C http://identifiers.org/clinvar/304832 ^@ NM_002334.3(LRP4):c.*1064C>G http://identifiers.org/clinvar/304841 ^@ NM_002334.3(LRP4):c.*261C>A http://identifiers.org/clinvar/362888 ^@ NM_023110.2(FGFR1):c.*71A>G http://identifiers.org/clinvar/362893 ^@ NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) http://identifiers.org/clinvar/362886 ^@ NM_023110.2(FGFR1):c.*118C>T http://identifiers.org/clinvar/298766 ^@ NM_005445.3(SMC3):c.970-14T>C http://identifiers.org/clinvar/298772 ^@ NM_005445.3(SMC3):c.2085G>A (p.Lys695=) http://identifiers.org/clinvar/362887 ^@ NM_023110.2(FGFR1):c.*113G>A http://identifiers.org/clinvar/362894 ^@ NM_023110.2(FGFR1):c.1615G>A (p.Gly539Arg) http://identifiers.org/clinvar/362900 ^@ NM_023110.2(FGFR1):c.663G>T (p.Val221=) http://identifiers.org/clinvar/362890 ^@ NM_023110.2(FGFR1):c.*14G>A http://identifiers.org/clinvar/298773 ^@ NM_005445.3(SMC3):c.2268+13A>G http://identifiers.org/clinvar/362895 ^@ NM_023110.2(FGFR1):c.1430+13T>C http://identifiers.org/clinvar/362897 ^@ NM_023110.2(FGFR1):c.1082-13C>T http://identifiers.org/clinvar/304848 ^@ NM_002334.3(LRP4):c.5330A>C (p.Lys1777Thr) http://identifiers.org/clinvar/362899 ^@ NM_023110.2(FGFR1):c.742G>A (p.Val248Met) http://identifiers.org/clinvar/362906 ^@ NM_023110.2(FGFR1):c.375G>A (p.Ser125=) http://identifiers.org/clinvar/304851 ^@ NM_002334.3(LRP4):c.4928C>T (p.Pro1643Leu) http://identifiers.org/clinvar/304853 ^@ NM_002334.3(LRP4):c.4905C>T (p.Phe1635=) http://identifiers.org/clinvar/298775 ^@ NM_005445.3(SMC3):c.2535+28delT http://identifiers.org/clinvar/362910 ^@ NM_023110.2(FGFR1):c.91+6G>T http://identifiers.org/clinvar/304857 ^@ NM_002334.3(LRP4):c.4613G>A (p.Arg1538Gln) http://identifiers.org/clinvar/362912 ^@ NM_023110.2(FGFR1):c.-124G>A http://identifiers.org/clinvar/362913 ^@ NM_023110.2(FGFR1):c.-270G>A http://identifiers.org/clinvar/304862 ^@ NM_002334.3(LRP4):c.4274G>A (p.Arg1425Gln) http://identifiers.org/clinvar/362915 ^@ NM_023110.2(FGFR1):c.-338T>G http://identifiers.org/clinvar/362917 ^@ NM_023110.2(FGFR1):c.-385G>A http://identifiers.org/clinvar/298776 ^@ NM_005445.3(SMC3):c.2645-8C>T http://identifiers.org/clinvar/298778 ^@ NM_005445.3(SMC3):c.*17A>G http://identifiers.org/clinvar/298779 ^@ NM_005445.3(SMC3):c.*77C>T http://identifiers.org/clinvar/298781 ^@ NM_005445.3(SMC3):c.*298delT http://identifiers.org/clinvar/362919 ^@ NM_023110.2(FGFR1):c.-699C>T http://identifiers.org/clinvar/298786 ^@ NM_001134363.2(RBM20):c.305G>A (p.Arg102Gln) http://identifiers.org/clinvar/304863 ^@ NM_002334.3(LRP4):c.3945G>A (p.Ser1315=) http://identifiers.org/clinvar/362914 ^@ NM_023110.2(FGFR1):c.-286C>T http://identifiers.org/clinvar/304864 ^@ NM_002334.3(LRP4):c.3944C>T (p.Ser1315Leu) http://identifiers.org/clinvar/304870 ^@ NM_002334.3(LRP4):c.3472C>T (p.Arg1158Trp) http://identifiers.org/clinvar/298793 ^@ NM_001134363.2(RBM20):c.1159G>A (p.Ala387Thr) http://identifiers.org/clinvar/304876 ^@ NM_002334.3(LRP4):c.2814+10G>A http://identifiers.org/clinvar/304879 ^@ NM_002334.3(LRP4):c.2325T>G (p.Ala775=) http://identifiers.org/clinvar/362916 ^@ NM_023110.2(FGFR1):c.-358C>T http://identifiers.org/clinvar/362920 ^@ NM_023110.2(FGFR1):c.-751C>T http://identifiers.org/clinvar/362924 ^@ NM_003816.2(ADAM9):c.504C>T (p.Val168=) http://identifiers.org/clinvar/304888 ^@ NM_002334.3(LRP4):c.1435C>T (p.Arg479Cys) http://identifiers.org/clinvar/298799 ^@ NM_001134363.2(RBM20):c.2819A>G (p.Lys940Arg) http://identifiers.org/clinvar/362931 ^@ NM_003816.2(ADAM9):c.1218A>G (p.Pro406=) http://identifiers.org/clinvar/298803 ^@ NM_001134363.2(RBM20):c.3633G>A (p.Pro1211=) http://identifiers.org/clinvar/362926 ^@ NM_003816.2(ADAM9):c.701C>T (p.Ala234Val) http://identifiers.org/clinvar/304900 ^@ NM_002334.3(LRP4):c.528C>T (p.Gly176=) http://identifiers.org/clinvar/362928 ^@ NM_003816.2(ADAM9):c.1013T>C (p.Val338Ala) http://identifiers.org/clinvar/362940 ^@ NM_003816.2(ADAM9):c.*132C>T http://identifiers.org/clinvar/362932 ^@ NM_003816.2(ADAM9):c.1236T>C (p.Tyr412=) http://identifiers.org/clinvar/304901 ^@ NM_002334.3(LRP4):c.431-8C>T http://identifiers.org/clinvar/304903 ^@ NM_002334.3(LRP4):c.282C>T (p.Asn94=) http://identifiers.org/clinvar/362934 ^@ NM_003816.2(ADAM9):c.1528G>A (p.Ala510Thr) http://identifiers.org/clinvar/362936 ^@ NM_003816.2(ADAM9):c.1728G>A (p.Glu576=) http://identifiers.org/clinvar/362938 ^@ NM_003816.2(ADAM9):c.2084T>G (p.Leu695Trp) http://identifiers.org/clinvar/362941 ^@ NM_003816.2(ADAM9):c.*218G>A http://identifiers.org/clinvar/298816 ^@ NM_001134363.2(RBM20):c.*546C>T http://identifiers.org/clinvar/304913 ^@ NM_000107.2(DDB2):c.-120G>A http://identifiers.org/clinvar/362945 ^@ NM_003816.2(ADAM9):c.*700_*702delTTA http://identifiers.org/clinvar/298817 ^@ NM_001134363.2(RBM20):c.*552G>C http://identifiers.org/clinvar/362942 ^@ NM_003816.2(ADAM9):c.*442A>G http://identifiers.org/clinvar/298819 ^@ NM_001134363.2(RBM20):c.*628T>G http://identifiers.org/clinvar/298821 ^@ NM_001134363.2(RBM20):c.*936T>A http://identifiers.org/clinvar/304915 ^@ NM_000107.2(DDB2):c.-31G>C http://identifiers.org/clinvar/362943 ^@ NM_003816.2(ADAM9):c.*613_*614delAG http://identifiers.org/clinvar/304917 ^@ NM_000107.2(DDB2):c.577G>A (p.Val193Ile) http://identifiers.org/clinvar/304918 ^@ NM_000107.2(DDB2):c.702+12G>A http://identifiers.org/clinvar/298822 ^@ NM_001134363.2(RBM20):c.*965G>A http://identifiers.org/clinvar/298827 ^@ NM_001134363.2(RBM20):c.*1170G>A http://identifiers.org/clinvar/298830 ^@ NM_001134363.2(RBM20):c.*1517C>T http://identifiers.org/clinvar/362949 ^@ NM_003816.2(ADAM9):c.*1310C>G http://identifiers.org/clinvar/304919 ^@ NM_000107.2(DDB2):c.738G>A (p.Thr246=) http://identifiers.org/clinvar/362951 ^@ NM_000037.3(ANK1):c.*2342C>G http://identifiers.org/clinvar/304920 ^@ NM_000107.2(DDB2):c.876C>T (p.Asn292=) http://identifiers.org/clinvar/304921 ^@ NM_000107.2(DDB2):c.905G>A (p.Arg302Gln) http://identifiers.org/clinvar/362952 ^@ NM_000037.3(ANK1):c.*2281C>T http://identifiers.org/clinvar/304925 ^@ NM_000107.2(DDB2):c.984G>A (p.Pro328=) http://identifiers.org/clinvar/304936 ^@ NM_000256.3(MYBPC3):c.*236G>A http://identifiers.org/clinvar/362948 ^@ NM_003816.2(ADAM9):c.*1126T>C http://identifiers.org/clinvar/362950 ^@ NM_003816.2(ADAM9):c.*1396A>C http://identifiers.org/clinvar/304945 ^@ NM_000256.3(MYBPC3):c.*26+3A>G http://identifiers.org/clinvar/298832 ^@ NM_001134363.2(RBM20):c.*1553G>A http://identifiers.org/clinvar/304947 ^@ NM_000256.3(MYBPC3):c.3191-7C>T http://identifiers.org/clinvar/298837 ^@ NM_001134363.2(RBM20):c.*1867G>A http://identifiers.org/clinvar/298846 ^@ NM_001134363.2(RBM20):c.*2722T>G http://identifiers.org/clinvar/304948 ^@ NM_000256.3(MYBPC3):c.2905+7G>C http://identifiers.org/clinvar/298851 ^@ NM_001134363.2(RBM20):c.*2867G>A http://identifiers.org/clinvar/362955 ^@ NM_000037.3(ANK1):c.*2123G>T http://identifiers.org/clinvar/304950 ^@ NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala) http://identifiers.org/clinvar/362959 ^@ NM_000037.3(ANK1):c.*1708G>C http://identifiers.org/clinvar/304953 ^@ NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=) http://identifiers.org/clinvar/304961 ^@ NM_000256.3(MYBPC3):c.927-10C>T http://identifiers.org/clinvar/304964 ^@ NM_005055.4(RAPSN):c.*216A>G http://identifiers.org/clinvar/362962 ^@ NM_000037.3(ANK1):c.*1590G>A http://identifiers.org/clinvar/362964 ^@ NM_000037.3(ANK1):c.*1242G>T http://identifiers.org/clinvar/298854 ^@ NM_001134363.2(RBM20):c.*3197A>G http://identifiers.org/clinvar/304971 ^@ NM_005055.4(RAPSN):c.1010dupG (p.Ser338Glnfs) http://identifiers.org/clinvar/298856 ^@ NM_001134363.2(RBM20):c.*3259G>A http://identifiers.org/clinvar/362968 ^@ NM_000037.3(ANK1):c.*925_*926delTC http://identifiers.org/clinvar/304974 ^@ NM_005055.4(RAPSN):c.781G>A (p.Asp261Asn) http://identifiers.org/clinvar/362953 ^@ NM_000037.3(ANK1):c.*2172C>A http://identifiers.org/clinvar/362961 ^@ NM_000037.3(ANK1):c.*1609C>G http://identifiers.org/clinvar/298860 ^@ NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) http://identifiers.org/clinvar/304977 ^@ NM_005055.4(RAPSN):c.690+10C>T http://identifiers.org/clinvar/304979 ^@ NM_005055.4(RAPSN):c.429G>C (p.Leu143=) http://identifiers.org/clinvar/304982 ^@ NM_005055.4(RAPSN):c.192+12C>T http://identifiers.org/clinvar/298863 ^@ NM_007373.3(SHOC2):c.1284+15G>A http://identifiers.org/clinvar/298864 ^@ NM_007373.3(SHOC2):c.1422+9_1422+11delTAT http://identifiers.org/clinvar/298866 ^@ NM_007373.3(SHOC2):c.*404A>G http://identifiers.org/clinvar/362970 ^@ NM_000037.3(ANK1):c.*714_*727dupATAGACTCTGCTGT http://identifiers.org/clinvar/298867 ^@ NM_007373.3(SHOC2):c.*506_*509delTTTT http://identifiers.org/clinvar/304985 ^@ NM_005055.4(RAPSN):c.-78G>A http://identifiers.org/clinvar/304988 ^@ NM_005055.4(RAPSN):c.-121C>T http://identifiers.org/clinvar/298869 ^@ NM_007373.3(SHOC2):c.*614T>G http://identifiers.org/clinvar/298874 ^@ NM_007373.3(SHOC2):c.*914G>A http://identifiers.org/clinvar/304991 ^@ NM_004551.2(NDUFS3):c.-41T>C http://identifiers.org/clinvar/298877 ^@ NM_007373.3(SHOC2):c.*1106A>C http://identifiers.org/clinvar/304992 ^@ NM_004551.2(NDUFS3):c.-30C>T http://identifiers.org/clinvar/298888 ^@ NM_007373.3(SHOC2):c.*1775delT http://identifiers.org/clinvar/362974 ^@ NM_000037.3(ANK1):c.*659_*660delAC http://identifiers.org/clinvar/304994 ^@ NM_004551.2(NDUFS3):c.190T>C (p.Tyr64His) http://identifiers.org/clinvar/305005 ^@ NM_000519.3(HBD):c.76G>A (p.Gly26Ser) http://identifiers.org/clinvar/362973 ^@ NM_000037.3(ANK1):c.*657_*660dupACAC http://identifiers.org/clinvar/305008 ^@ NM_000519.3(HBD):c.-180A>G http://identifiers.org/clinvar/298898 ^@ NM_004132.4(HABP2):c.183C>T (p.His61=) http://identifiers.org/clinvar/298900 ^@ NM_004132.4(HABP2):c.267C>T (p.Leu89=) http://identifiers.org/clinvar/305009 ^@ NM_000062.2(SERPING1):c.-99dupC http://identifiers.org/clinvar/305014 ^@ NM_000062.2(SERPING1):c.-24G>C http://identifiers.org/clinvar/305017 ^@ NM_000062.2(SERPING1):c.51G>C (p.Gly17=) http://identifiers.org/clinvar/362963 ^@ NM_000037.3(ANK1):c.*1402G>T http://identifiers.org/clinvar/362967 ^@ NM_000037.3(ANK1):c.*992T>C http://identifiers.org/clinvar/362979 ^@ NM_000037.3(ANK1):c.*4C>T http://identifiers.org/clinvar/305019 ^@ NM_000062.2(SERPING1):c.135C>T (p.Val45=) http://identifiers.org/clinvar/362975 ^@ NM_000037.3(ANK1):c.*651A>C http://identifiers.org/clinvar/362976 ^@ NM_000037.3(ANK1):c.*484dupA http://identifiers.org/clinvar/298907 ^@ NM_004132.4(HABP2):c.807A>C (p.Glu269Asp) http://identifiers.org/clinvar/298908 ^@ NM_004132.4(HABP2):c.830C>T (p.Ser277Leu) http://identifiers.org/clinvar/298911 ^@ NM_004132.4(HABP2):c.947G>A (p.Gly316Glu) http://identifiers.org/clinvar/298912 ^@ NM_004132.4(HABP2):c.957G>A (p.Lys319=) http://identifiers.org/clinvar/298913 ^@ NM_004132.4(HABP2):c.1030G>A (p.Gly344Ser) http://identifiers.org/clinvar/362981 ^@ NM_000037.3(ANK1):c.5376C>T (p.Thr1792=) http://identifiers.org/clinvar/305027 ^@ NM_000062.2(SERPING1):c.849C>T (p.Ser283=) http://identifiers.org/clinvar/362982 ^@ NM_000037.3(ANK1):c.5289A>G (p.Thr1763=) http://identifiers.org/clinvar/298919 ^@ NM_004132.4(HABP2):c.1379G>C (p.Gly460Ala) http://identifiers.org/clinvar/305030 ^@ NM_005142.2(GIF):c.1107C>T (p.Val369=) http://identifiers.org/clinvar/305031 ^@ NM_005142.2(GIF):c.990C>T (p.Asn330=) http://identifiers.org/clinvar/298925 ^@ NM_004132.4(HABP2):c.*258C>T http://identifiers.org/clinvar/362993 ^@ NM_000037.3(ANK1):c.4156T>C (p.Tyr1386His) http://identifiers.org/clinvar/305035 ^@ NM_005142.2(GIF):c.764A>G (p.Asn255Ser) http://identifiers.org/clinvar/305037 ^@ NM_005142.2(GIF):c.455C>T (p.Pro152Leu) http://identifiers.org/clinvar/298931 ^@ NM_004132.4(HABP2):c.*627_*629delCTT http://identifiers.org/clinvar/305042 ^@ NM_005142.2(GIF):c.246C>T (p.Ser82=) http://identifiers.org/clinvar/362994 ^@ NM_000037.3(ANK1):c.4060C>T (p.His1354Tyr) http://identifiers.org/clinvar/305048 ^@ NM_016464.4(TMEM138):c.-479A>C http://identifiers.org/clinvar/305055 ^@ NM_016464.4(TMEM138):c.-226C>G http://identifiers.org/clinvar/298942 ^@ NM_004132.4(HABP2):c.*1052G>A http://identifiers.org/clinvar/305066 ^@ NM_016464.4(TMEM138):c.420A>G (p.Arg140=) http://identifiers.org/clinvar/298952 ^@ NM_004281.3(BAG3):c.-271C>T http://identifiers.org/clinvar/298956 ^@ NM_004281.3(BAG3):c.415C>T (p.Arg139Trp) http://identifiers.org/clinvar/298957 ^@ NM_004281.3(BAG3):c.564G>T (p.Leu188=) http://identifiers.org/clinvar/362985 ^@ NM_000037.3(ANK1):c.4976C>T (p.Ala1659Val) http://identifiers.org/clinvar/298962 ^@ NM_004281.3(BAG3):c.1571T>C (p.Ile524Thr) http://identifiers.org/clinvar/298966 ^@ NM_004281.3(BAG3):c.*218G>C http://identifiers.org/clinvar/305067 ^@ NM_016464.4(TMEM138):c.482G>A (p.Arg161Gln) http://identifiers.org/clinvar/305068 ^@ NM_016464.4(TMEM138):c.*92G>C http://identifiers.org/clinvar/298969 ^@ NM_004281.3(BAG3):c.*306_*307delTT http://identifiers.org/clinvar/298970 ^@ NM_004281.3(BAG3):c.*319C>T http://identifiers.org/clinvar/298979 ^@ NM_000141.4(FGFR2):c.*1301C>T http://identifiers.org/clinvar/298981 ^@ NM_000141.4(FGFR2):c.*1126T>C http://identifiers.org/clinvar/362988 ^@ NM_000037.3(ANK1):c.4607G>A (p.Arg1536His) http://identifiers.org/clinvar/305070 ^@ NM_016464.4(TMEM138):c.*264C>G http://identifiers.org/clinvar/305077 ^@ NM_001173990.2(TMEM216):c.230-9G>A http://identifiers.org/clinvar/362996 ^@ NM_000037.3(ANK1):c.4037C>T (p.Ala1346Val) http://identifiers.org/clinvar/362997 ^@ NM_000037.3(ANK1):c.3985-10T>C http://identifiers.org/clinvar/305084 ^@ NM_001173990.2(TMEM216):c.*93T>C http://identifiers.org/clinvar/363002 ^@ NM_000037.3(ANK1):c.3533-10G>A http://identifiers.org/clinvar/363005 ^@ NM_000037.3(ANK1):c.3443G>A (p.Arg1148Gln) http://identifiers.org/clinvar/363007 ^@ NM_000037.3(ANK1):c.3288G>A (p.Pro1096=) http://identifiers.org/clinvar/298983 ^@ NM_000141.4(FGFR2):c.*921G>A http://identifiers.org/clinvar/298984 ^@ NM_000141.4(FGFR2):c.*736dupA http://identifiers.org/clinvar/298986 ^@ NM_000141.4(FGFR2):c.*641_*644delTAAT http://identifiers.org/clinvar/305090 ^@ NM_001173990.2(TMEM216):c.*558G>A http://identifiers.org/clinvar/305092 ^@ NM_017841.2(SDHAF2):c.370+12G>A http://identifiers.org/clinvar/305099 ^@ NM_017841.2(SDHAF2):c.*233C>T http://identifiers.org/clinvar/362989 ^@ NM_000037.3(ANK1):c.4541A>C (p.Tyr1514Ser) http://identifiers.org/clinvar/362990 ^@ NM_000037.3(ANK1):c.4524C>T (p.Pro1508=) http://identifiers.org/clinvar/362991 ^@ NM_000037.3(ANK1):c.4497C>T (p.His1499=) http://identifiers.org/clinvar/362998 ^@ NM_000037.3(ANK1):c.3984+12C>T http://identifiers.org/clinvar/363009 ^@ NM_000037.3(ANK1):c.3234C>T (p.Pro1078=) http://identifiers.org/clinvar/363012 ^@ NM_000037.3(ANK1):c.2835G>A (p.Ala945=) http://identifiers.org/clinvar/298993 ^@ NM_000141.4(FGFR2):c.*184C>T http://identifiers.org/clinvar/363017 ^@ NM_000037.3(ANK1):c.2211C>G (p.Pro737=) http://identifiers.org/clinvar/363000 ^@ NM_000037.3(ANK1):c.3813G>A (p.Glu1271=) http://identifiers.org/clinvar/363019 ^@ NM_000037.3(ANK1):c.2167C>A (p.His723Asn) http://identifiers.org/clinvar/305101 ^@ NM_017841.2(SDHAF2):c.*378G>A http://identifiers.org/clinvar/305102 ^@ NM_017841.2(SDHAF2):c.*389C>T http://identifiers.org/clinvar/298996 ^@ NM_000141.4(FGFR2):c.2415C>T (p.Tyr805=) http://identifiers.org/clinvar/298997 ^@ NM_000141.4(FGFR2):c.2001C>G (p.Val667=) http://identifiers.org/clinvar/305106 ^@ NM_017841.2(SDHAF2):c.*627G>T http://identifiers.org/clinvar/363021 ^@ NM_000037.3(ANK1):c.2096G>A (p.Arg699Gln) http://identifiers.org/clinvar/363022 ^@ NM_000037.3(ANK1):c.1926C>T (p.Ala642=) http://identifiers.org/clinvar/363027 ^@ NM_000037.3(ANK1):c.1503C>T (p.Thr501=) http://identifiers.org/clinvar/305112 ^@ NM_004183.3(BEST1):c.-329C>T http://identifiers.org/clinvar/363028 ^@ NM_000037.3(ANK1):c.1486C>T (p.Pro496Ser) http://identifiers.org/clinvar/305116 ^@ NM_004183.3(BEST1):c.-66G>T http://identifiers.org/clinvar/363033 ^@ NM_000037.3(ANK1):c.1286C>T (p.Ser429Leu) http://identifiers.org/clinvar/305124 ^@ NM_004183.3(BEST1):c.1064G>A (p.Arg355His) http://identifiers.org/clinvar/305125 ^@ NM_004183.3(BEST1):c.1070C>T (p.Ala357Val) http://identifiers.org/clinvar/363003 ^@ NM_000037.3(ANK1):c.3532+13C>A http://identifiers.org/clinvar/363004 ^@ NM_000037.3(ANK1):c.3512G>T (p.Arg1171Leu) http://identifiers.org/clinvar/363013 ^@ NM_000037.3(ANK1):c.2735+10G>A http://identifiers.org/clinvar/363034 ^@ NM_000037.3(ANK1):c.1203C>T (p.Thr401=) http://identifiers.org/clinvar/363018 ^@ NM_000037.3(ANK1):c.2197-9A>G http://identifiers.org/clinvar/363020 ^@ NM_000037.3(ANK1):c.2097+15C>T http://identifiers.org/clinvar/363037 ^@ NM_000037.3(ANK1):c.1131C>A (p.Ile377=) http://identifiers.org/clinvar/299000 ^@ NM_000141.4(FGFR2):c.1562-11A>G http://identifiers.org/clinvar/363038 ^@ NM_000037.3(ANK1):c.1056G>C (p.Arg352Ser) http://identifiers.org/clinvar/299002 ^@ NM_000141.4(FGFR2):c.1539C>A (p.Thr513=) http://identifiers.org/clinvar/363042 ^@ NM_000037.3(ANK1):c.711+13C>T http://identifiers.org/clinvar/299004 ^@ NM_000141.4(FGFR2):c.1179A>T (p.Val393=) http://identifiers.org/clinvar/299006 ^@ NM_000141.4(FGFR2):c.879C>T (p.His293=) http://identifiers.org/clinvar/299007 ^@ NM_000141.4(FGFR2):c.625-10A>G http://identifiers.org/clinvar/299008 ^@ NM_000141.4(FGFR2):c.351T>C (p.Thr117=) http://identifiers.org/clinvar/305126 ^@ NM_004183.3(BEST1):c.1143C>T (p.Asp381=) http://identifiers.org/clinvar/363047 ^@ NM_000037.3(ANK1):c.649G>A (p.Glu217Lys) http://identifiers.org/clinvar/363049 ^@ NM_000037.3(ANK1):c.489C>T (p.Leu163=) http://identifiers.org/clinvar/363041 ^@ NM_000037.3(ANK1):c.876G>A (p.Leu292=) http://identifiers.org/clinvar/363044 ^@ NM_000037.3(ANK1):c.675C>T (p.Leu225=) http://identifiers.org/clinvar/363052 ^@ NM_006749.4(SLC20A2):c.*1069G>C http://identifiers.org/clinvar/363062 ^@ NM_006749.4(SLC20A2):c.*263A>C http://identifiers.org/clinvar/363065 ^@ NM_006749.4(SLC20A2):c.*113A>T http://identifiers.org/clinvar/363066 ^@ NM_006749.4(SLC20A2):c.*112G>T http://identifiers.org/clinvar/299022 ^@ NM_000141.4(FGFR2):c.-358C>T http://identifiers.org/clinvar/299029 ^@ NM_001099667.1(ARMS2):c.112C>T (p.Arg38Ter) http://identifiers.org/clinvar/299030 ^@ NM_001099667.1(ARMS2):c.298-14_298-13insG http://identifiers.org/clinvar/363053 ^@ NM_006749.4(SLC20A2):c.*1057C>G http://identifiers.org/clinvar/299032 ^@ NM_001099667.1(ARMS2):c.298-13A>T http://identifiers.org/clinvar/299038 ^@ NM_001099667.1(ARMS2):c.*373T>G http://identifiers.org/clinvar/299041 ^@ NM_001099667.1(ARMS2):c.*385A>C http://identifiers.org/clinvar/363070 ^@ NM_006749.4(SLC20A2):c.1576G>T (p.Val526Leu) http://identifiers.org/clinvar/299048 ^@ NM_002775.4(HTRA1):c.472+6C>A http://identifiers.org/clinvar/305133 ^@ NM_004183.3(BEST1):c.*133T>C http://identifiers.org/clinvar/299053 ^@ NM_002775.4(HTRA1):c.1260T>A (p.Asp420Glu) http://identifiers.org/clinvar/363074 ^@ NM_006749.4(SLC20A2):c.1254C>T (p.Gly418=) http://identifiers.org/clinvar/363055 ^@ NM_006749.4(SLC20A2):c.*660T>C http://identifiers.org/clinvar/363075 ^@ NM_006749.4(SLC20A2):c.1134G>T (p.Arg378=) http://identifiers.org/clinvar/305144 ^@ NM_002032.2(FTH1):c.208C>T (p.Leu70=) http://identifiers.org/clinvar/363076 ^@ NM_006749.4(SLC20A2):c.1090G>A (p.Asp364Asn) http://identifiers.org/clinvar/305147 ^@ NM_002032.2(FTH1):c.-204A>G http://identifiers.org/clinvar/363056 ^@ NM_006749.4(SLC20A2):c.*570G>T http://identifiers.org/clinvar/299062 ^@ NM_001609.3(ACADSB):c.-102G>C http://identifiers.org/clinvar/363079 ^@ NM_006749.4(SLC20A2):c.933C>T (p.Tyr311=) http://identifiers.org/clinvar/305149 ^@ NM_002032.2(FTH1):c.-231G>A http://identifiers.org/clinvar/305151 ^@ NM_000327.3(ROM1):c.-495G>T http://identifiers.org/clinvar/363082 ^@ NM_006749.4(SLC20A2):c.883C>T (p.Leu295=) http://identifiers.org/clinvar/299063 ^@ NM_001609.3(ACADSB):c.-97T>C http://identifiers.org/clinvar/363059 ^@ NM_006749.4(SLC20A2):c.*380C>T http://identifiers.org/clinvar/363060 ^@ NM_006749.4(SLC20A2):c.*361A>G http://identifiers.org/clinvar/363067 ^@ NM_006749.4(SLC20A2):c.*70C>T http://identifiers.org/clinvar/305157 ^@ NM_000327.3(ROM1):c.-301C>T http://identifiers.org/clinvar/305159 ^@ NM_000327.3(ROM1):c.-118G>C http://identifiers.org/clinvar/363094 ^@ NM_006749.4(SLC20A2):c.138G>A (p.Gln46=) http://identifiers.org/clinvar/363102 ^@ NM_006749.4(SLC20A2):c.-457G>T http://identifiers.org/clinvar/299067 ^@ NM_001609.3(ACADSB):c.-22A>G http://identifiers.org/clinvar/305163 ^@ NM_000327.3(ROM1):c.397C>T (p.Leu133=) http://identifiers.org/clinvar/305171 ^@ NM_000327.3(ROM1):c.*255C>T http://identifiers.org/clinvar/363077 ^@ NM_006749.4(SLC20A2):c.1011C>A (p.Thr337=) http://identifiers.org/clinvar/305176 ^@ NM_032667.6(BSCL2):c.669C>T (p.Leu223=) http://identifiers.org/clinvar/305177 ^@ NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) http://identifiers.org/clinvar/305180 ^@ NM_032667.6(BSCL2):c.423C>T (p.Ser141=) http://identifiers.org/clinvar/363083 ^@ NM_006749.4(SLC20A2):c.849C>T (p.Ser283=) http://identifiers.org/clinvar/305185 ^@ NM_032667.6(BSCL2):c.-69C>T http://identifiers.org/clinvar/305190 ^@ NM_032667.6(BSCL2):c.-183G>A http://identifiers.org/clinvar/299068 ^@ NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) http://identifiers.org/clinvar/305192 ^@ NM_000543.4(SMPD1):c.-45G>C http://identifiers.org/clinvar/299069 ^@ NM_001609.3(ACADSB):c.42G>T (p.Leu14=) http://identifiers.org/clinvar/363105 ^@ NM_006749.4(SLC20A2):c.-592C>T http://identifiers.org/clinvar/363106 ^@ NM_018105.2(THAP1):c.*1250G>A http://identifiers.org/clinvar/363084 ^@ NM_006749.4(SLC20A2):c.846C>T (p.Asp282=) http://identifiers.org/clinvar/363087 ^@ NM_006749.4(SLC20A2):c.761G>A (p.Arg254Gln) http://identifiers.org/clinvar/363093 ^@ NM_006749.4(SLC20A2):c.186A>G (p.Leu62=) http://identifiers.org/clinvar/363096 ^@ NM_006749.4(SLC20A2):c.-265+8dupG http://identifiers.org/clinvar/299070 ^@ NM_001609.3(ACADSB):c.92A>G (p.His31Arg) http://identifiers.org/clinvar/299081 ^@ NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) http://identifiers.org/clinvar/363097 ^@ NM_006749.4(SLC20A2):c.-265+5dupG http://identifiers.org/clinvar/363108 ^@ NM_018105.2(THAP1):c.*1157A>G http://identifiers.org/clinvar/299093 ^@ NM_001609.3(ACADSB):c.*30G>A http://identifiers.org/clinvar/299094 ^@ NM_001609.3(ACADSB):c.*57G>A http://identifiers.org/clinvar/299100 ^@ NM_001609.3(ACADSB):c.*277A>T http://identifiers.org/clinvar/299101 ^@ NM_001609.3(ACADSB):c.*285T>C http://identifiers.org/clinvar/299110 ^@ NM_001609.3(ACADSB):c.*1202G>A http://identifiers.org/clinvar/363111 ^@ NM_018105.2(THAP1):c.*803G>A http://identifiers.org/clinvar/305194 ^@ NM_000543.4(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) http://identifiers.org/clinvar/299116 ^@ NM_001609.3(ACADSB):c.*1754A>G http://identifiers.org/clinvar/299117 ^@ NM_001609.3(ACADSB):c.*1826C>T http://identifiers.org/clinvar/299118 ^@ NM_001609.3(ACADSB):c.*1840T>G http://identifiers.org/clinvar/299120 ^@ NM_001609.3(ACADSB):c.*1907C>T http://identifiers.org/clinvar/305198 ^@ NM_000543.4(SMPD1):c.729C>T (p.Ala243=) http://identifiers.org/clinvar/363122 ^@ NM_018105.2(THAP1):c.*135T>A http://identifiers.org/clinvar/363131 ^@ NM_018105.2(THAP1):c.-111T>C http://identifiers.org/clinvar/305199 ^@ NM_000543.4(SMPD1):c.808G>A (p.Gly270Ser) http://identifiers.org/clinvar/305207 ^@ NM_000543.4(SMPD1):c.1625G>A (p.Arg542Gln) http://identifiers.org/clinvar/305208 ^@ NM_000543.4(SMPD1):c.*45G>A http://identifiers.org/clinvar/299123 ^@ NM_001609.3(ACADSB):c.*1972C>A http://identifiers.org/clinvar/363135 ^@ NM_152419.2(HGSNAT):c.-37C>T http://identifiers.org/clinvar/305221 ^@ NM_144585.3(SLC22A12):c.-332A>G http://identifiers.org/clinvar/305232 ^@ NM_144585.3(SLC22A12):c.402+13C>T http://identifiers.org/clinvar/363137 ^@ NM_152419.2(HGSNAT):c.108G>A (p.Ala36=) http://identifiers.org/clinvar/305236 ^@ NM_144585.3(SLC22A12):c.603G>C (p.Leu201=) http://identifiers.org/clinvar/305250 ^@ NM_144585.3(SLC22A12):c.1626G>A (p.Thr542=) http://identifiers.org/clinvar/363100 ^@ NM_006749.4(SLC20A2):c.-389G>A http://identifiers.org/clinvar/363107 ^@ NM_018105.2(THAP1):c.*1235C>A http://identifiers.org/clinvar/363141 ^@ NM_152419.2(HGSNAT):c.277G>T (p.Ala93Ser) http://identifiers.org/clinvar/305255 ^@ NM_144585.3(SLC22A12):c.*397C>T http://identifiers.org/clinvar/363143 ^@ NM_152419.2(HGSNAT):c.371+15T>A http://identifiers.org/clinvar/299133 ^@ NM_001609.3(ACADSB):c.*2339G>A http://identifiers.org/clinvar/363146 ^@ NM_152419.2(HGSNAT):c.1128G>A (p.Ser376=) http://identifiers.org/clinvar/305258 ^@ NM_144585.3(SLC22A12):c.*553A>T http://identifiers.org/clinvar/363149 ^@ NM_152419.2(HGSNAT):c.1272C>T (p.Gly424=) http://identifiers.org/clinvar/305269 ^@ NM_005609.3(PYGM):c.2268C>T (p.Pro756=) http://identifiers.org/clinvar/305280 ^@ NM_005609.3(PYGM):c.589T>C (p.Phe197Leu) http://identifiers.org/clinvar/299134 ^@ NM_001609.3(ACADSB):c.*2490T>C http://identifiers.org/clinvar/305282 ^@ NM_005609.3(PYGM):c.537G>A (p.Glu179=) http://identifiers.org/clinvar/305286 ^@ NM_005609.3(PYGM):c.22C>A (p.Gln8Lys) http://identifiers.org/clinvar/305288 ^@ NM_005609.3(PYGM):c.-146C>A http://identifiers.org/clinvar/363109 ^@ NM_018105.2(THAP1):c.*1032G>A http://identifiers.org/clinvar/363112 ^@ NM_018105.2(THAP1):c.*745G>T http://identifiers.org/clinvar/299135 ^@ NM_001609.3(ACADSB):c.*2529G>A http://identifiers.org/clinvar/305291 ^@ NM_005609.3(PYGM):c.-556C>G http://identifiers.org/clinvar/305298 ^@ NM_130799.2(MEN1):c.*557C>A http://identifiers.org/clinvar/299139 ^@ NM_001609.3(ACADSB):c.*2922G>A http://identifiers.org/clinvar/299140 ^@ NM_001609.3(ACADSB):c.*2950A>G http://identifiers.org/clinvar/363157 ^@ NM_152419.2(HGSNAT):c.*390G>A http://identifiers.org/clinvar/305300 ^@ NM_130799.2(MEN1):c.*529A>G http://identifiers.org/clinvar/363164 ^@ NM_152419.2(HGSNAT):c.*1212C>T http://identifiers.org/clinvar/299141 ^@ NM_001609.3(ACADSB):c.*2957T>A http://identifiers.org/clinvar/363166 ^@ NM_152419.2(HGSNAT):c.*1216G>A http://identifiers.org/clinvar/363167 ^@ NM_152419.2(HGSNAT):c.*1231G>A http://identifiers.org/clinvar/363171 ^@ NM_152419.2(HGSNAT):c.*1436A>G http://identifiers.org/clinvar/299144 ^@ NM_001609.3(ACADSB):c.*3299C>G http://identifiers.org/clinvar/363175 ^@ NM_152419.2(HGSNAT):c.*1841G>A http://identifiers.org/clinvar/305301 ^@ NM_130799.2(MEN1):c.*527G>T http://identifiers.org/clinvar/305304 ^@ NM_130799.2(MEN1):c.*392G>A http://identifiers.org/clinvar/363179 ^@ NM_152419.2(HGSNAT):c.*2258A>G http://identifiers.org/clinvar/305308 ^@ NM_130799.2(MEN1):c.*302C>T http://identifiers.org/clinvar/305309 ^@ NM_130799.2(MEN1):c.*272T>C http://identifiers.org/clinvar/299145 ^@ NM_001609.3(ACADSB):c.*3340G>C http://identifiers.org/clinvar/299154 ^@ NM_001609.3(ACADSB):c.*3918G>A http://identifiers.org/clinvar/299162 ^@ NM_000274.3(OAT):c.*535T>C http://identifiers.org/clinvar/363180 ^@ NM_152419.2(HGSNAT):c.*2266G>T http://identifiers.org/clinvar/305310 ^@ NM_130799.2(MEN1):c.*185C>T http://identifiers.org/clinvar/299166 ^@ NM_000274.3(OAT):c.*185C>T http://identifiers.org/clinvar/305312 ^@ NM_130799.2(MEN1):c.*89G>A http://identifiers.org/clinvar/305316 ^@ NM_130799.2(MEN1):c.-23-14G>C http://identifiers.org/clinvar/305327 ^@ NM_032193.3(RNASEH2C):c.*1778C>G http://identifiers.org/clinvar/363182 ^@ NM_152419.2(HGSNAT):c.*2341G>A http://identifiers.org/clinvar/363186 ^@ NM_152419.2(HGSNAT):c.*2801C>G http://identifiers.org/clinvar/363187 ^@ NM_152419.2(HGSNAT):c.*3044dupT http://identifiers.org/clinvar/363114 ^@ NM_018105.2(THAP1):c.*459A>C http://identifiers.org/clinvar/363189 ^@ NM_152419.2(HGSNAT):c.*3241A>G http://identifiers.org/clinvar/305328 ^@ NM_032193.3(RNASEH2C):c.*1776C>T http://identifiers.org/clinvar/305331 ^@ NM_032193.3(RNASEH2C):c.*1658G>C http://identifiers.org/clinvar/363190 ^@ NM_005914.3(MCM4):c.-754G>A http://identifiers.org/clinvar/363191 ^@ NM_005914.3(MCM4):c.-745_-744delAA http://identifiers.org/clinvar/363196 ^@ NM_005914.3(MCM4):c.-479A>G http://identifiers.org/clinvar/363116 ^@ NM_018105.2(THAP1):c.*434A>G http://identifiers.org/clinvar/299178 ^@ NM_000274.3(OAT):c.-38C>T http://identifiers.org/clinvar/299183 ^@ NM_000375.2(UROS):c.*178G>A http://identifiers.org/clinvar/299186 ^@ NM_000375.2(UROS):c.*24A>G http://identifiers.org/clinvar/363119 ^@ NM_018105.2(THAP1):c.*245T>C http://identifiers.org/clinvar/299193 ^@ NM_000375.2(UROS):c.251A>C (p.Glu84Ala) http://identifiers.org/clinvar/305335 ^@ NM_032193.3(RNASEH2C):c.*1504G>A http://identifiers.org/clinvar/299195 ^@ NM_000375.2(UROS):c.-27+10G>A http://identifiers.org/clinvar/299196 ^@ NM_000375.2(UROS):c.-31G>T http://identifiers.org/clinvar/299197 ^@ NM_000375.2(UROS):c.-136C>T http://identifiers.org/clinvar/363199 ^@ NM_005914.3(MCM4):c.-444A>C http://identifiers.org/clinvar/299201 ^@ NM_021980.4(OPTN):c.-227G>T http://identifiers.org/clinvar/305336 ^@ NM_032193.3(RNASEH2C):c.*1295T>C http://identifiers.org/clinvar/299202 ^@ NM_021980.4(OPTN):c.-161T>C http://identifiers.org/clinvar/363207 ^@ NM_005914.3(MCM4):c.-184G>T http://identifiers.org/clinvar/299203 ^@ NM_021980.4(OPTN):c.-122C>A http://identifiers.org/clinvar/299207 ^@ NM_021980.4(OPTN):c.-63G>A http://identifiers.org/clinvar/299213 ^@ NM_021980.4(OPTN):c.444G>A (p.Val148=) http://identifiers.org/clinvar/305338 ^@ NM_032193.3(RNASEH2C):c.*1017G>A http://identifiers.org/clinvar/305345 ^@ NM_032193.3(RNASEH2C):c.*560C>T http://identifiers.org/clinvar/363124 ^@ NM_018105.2(THAP1):c.*119delA http://identifiers.org/clinvar/363129 ^@ NM_018105.2(THAP1):c.-48C>T http://identifiers.org/clinvar/305349 ^@ NM_032193.3(RNASEH2C):c.*456G>A http://identifiers.org/clinvar/363132 ^@ NM_018105.2(THAP1):c.-169C>G http://identifiers.org/clinvar/363213 ^@ NM_005914.3(MCM4):c.187G>T (p.Ala63Ser) http://identifiers.org/clinvar/363136 ^@ NM_152419.2(HGSNAT):c.17G>A (p.Arg6Lys) http://identifiers.org/clinvar/305356 ^@ NM_032193.3(RNASEH2C):c.*29A>G http://identifiers.org/clinvar/305358 ^@ NM_032193.3(RNASEH2C):c.468+13G>A http://identifiers.org/clinvar/363139 ^@ NM_152419.2(HGSNAT):c.205G>A (p.Val69Ile) http://identifiers.org/clinvar/363214 ^@ NM_005914.3(MCM4):c.199G>A (p.Val67Met) http://identifiers.org/clinvar/299217 ^@ NM_021980.4(OPTN):c.961A>T (p.Ser321Cys) http://identifiers.org/clinvar/363142 ^@ NM_152419.2(HGSNAT):c.342C>T (p.Asn114=) http://identifiers.org/clinvar/363145 ^@ NM_152419.2(HGSNAT):c.1080T>G (p.Ala360=) http://identifiers.org/clinvar/363148 ^@ NM_152419.2(HGSNAT):c.1250+7G>A http://identifiers.org/clinvar/305364 ^@ NM_032193.3(RNASEH2C):c.268A>G (p.Lys90Glu) http://identifiers.org/clinvar/305366 ^@ NM_032193.3(RNASEH2C):c.173-14G>A http://identifiers.org/clinvar/363217 ^@ NM_005914.3(MCM4):c.440G>A (p.Gly147Asp) http://identifiers.org/clinvar/363150 ^@ NM_152419.2(HGSNAT):c.1567A>C (p.Lys523Gln) http://identifiers.org/clinvar/363155 ^@ NM_152419.2(HGSNAT):c.*196T>G http://identifiers.org/clinvar/363156 ^@ NM_152419.2(HGSNAT):c.*304C>A http://identifiers.org/clinvar/305373 ^@ NM_016938.4(EFEMP2):c.*282C>T http://identifiers.org/clinvar/363159 ^@ NM_152419.2(HGSNAT):c.*1034G>A http://identifiers.org/clinvar/363165 ^@ NM_152419.2(HGSNAT):c.*1215C>T http://identifiers.org/clinvar/363218 ^@ NM_005914.3(MCM4):c.487A>G (p.Lys163Glu) http://identifiers.org/clinvar/305378 ^@ NM_016938.4(EFEMP2):c.977G>A (p.Arg326His) http://identifiers.org/clinvar/363220 ^@ NM_005914.3(MCM4):c.743G>A (p.Arg248His) http://identifiers.org/clinvar/363176 ^@ NM_152419.2(HGSNAT):c.*1854C>T http://identifiers.org/clinvar/363177 ^@ NM_152419.2(HGSNAT):c.*2068A>G http://identifiers.org/clinvar/363178 ^@ NM_152419.2(HGSNAT):c.*2233G>A http://identifiers.org/clinvar/363224 ^@ NM_005914.3(MCM4):c.859G>A (p.Gly287Ser) http://identifiers.org/clinvar/363181 ^@ NM_152419.2(HGSNAT):c.*2305A>G http://identifiers.org/clinvar/305386 ^@ NM_016938.4(EFEMP2):c.99C>T (p.Pro33=) http://identifiers.org/clinvar/299219 ^@ NM_021980.4(OPTN):c.1243-13G>A http://identifiers.org/clinvar/305389 ^@ NM_016938.4(EFEMP2):c.-133_-130dupCGGG http://identifiers.org/clinvar/305390 ^@ NM_016938.4(EFEMP2):c.-181G>A http://identifiers.org/clinvar/299221 ^@ NM_021980.4(OPTN):c.1532+16_1532+17delAG http://identifiers.org/clinvar/305391 ^@ NM_016938.4(EFEMP2):c.-229G>C http://identifiers.org/clinvar/299224 ^@ NM_021980.4(OPTN):c.*152G>T http://identifiers.org/clinvar/299227 ^@ NM_021980.4(OPTN):c.*306G>A http://identifiers.org/clinvar/363185 ^@ NM_152419.2(HGSNAT):c.*2756G>A http://identifiers.org/clinvar/305392 ^@ NM_001143985.1(BANF1):c.-440A>G http://identifiers.org/clinvar/363188 ^@ NM_152419.2(HGSNAT):c.*3213T>A http://identifiers.org/clinvar/363205 ^@ NM_005914.3(MCM4):c.-205C>T http://identifiers.org/clinvar/363206 ^@ NM_005914.3(MCM4):c.-190C>T http://identifiers.org/clinvar/305395 ^@ NM_001143985.1(BANF1):c.-415_-414dupAG http://identifiers.org/clinvar/305396 ^@ NM_001143985.1(BANF1):c.-408C>T http://identifiers.org/clinvar/299230 ^@ NM_021980.4(OPTN):c.*461G>A http://identifiers.org/clinvar/299242 ^@ NM_006214.3(PHYH):c.*22T>G http://identifiers.org/clinvar/299243 ^@ NM_006214.3(PHYH):c.1009A>G (p.Asn337Asp) http://identifiers.org/clinvar/305398 ^@ NM_001143985.1(BANF1):c.-254G>T http://identifiers.org/clinvar/299244 ^@ NM_006214.3(PHYH):c.980G>A (p.Arg327Gln) http://identifiers.org/clinvar/305399 ^@ NM_001143985.1(BANF1):c.-230C>T http://identifiers.org/clinvar/363208 ^@ NM_005914.3(MCM4):c.-181A>T http://identifiers.org/clinvar/363212 ^@ NM_005914.3(MCM4):c.159C>T (p.Thr53=) http://identifiers.org/clinvar/363216 ^@ NM_005914.3(MCM4):c.241C>T (p.Pro81Ser) http://identifiers.org/clinvar/363227 ^@ NM_005914.3(MCM4):c.961C>T (p.Arg321Cys) http://identifiers.org/clinvar/305401 ^@ NM_001143985.1(BANF1):c.-192G>C http://identifiers.org/clinvar/299251 ^@ NM_006214.3(PHYH):c.601C>G (p.Arg201Gly) http://identifiers.org/clinvar/299256 ^@ NM_006214.3(PHYH):c.321G>T (p.Ser107=) http://identifiers.org/clinvar/299260 ^@ NM_006214.3(PHYH):c.126A>G (p.Gln42=) http://identifiers.org/clinvar/363228 ^@ NM_005914.3(MCM4):c.978T>C (p.Ser326=) http://identifiers.org/clinvar/363222 ^@ NM_005914.3(MCM4):c.833-14T>C http://identifiers.org/clinvar/363229 ^@ NM_005914.3(MCM4):c.1175-7C>T http://identifiers.org/clinvar/305402 ^@ NM_001143985.1(BANF1):c.-86G>A http://identifiers.org/clinvar/363232 ^@ NM_005914.3(MCM4):c.1419T>G (p.His473Gln) http://identifiers.org/clinvar/363226 ^@ NM_005914.3(MCM4):c.940C>T (p.Arg314Trp) http://identifiers.org/clinvar/305406 ^@ NM_001143985.1(BANF1):c.9C>T (p.Thr3=) http://identifiers.org/clinvar/363235 ^@ NM_005914.3(MCM4):c.1659A>G (p.Thr553=) http://identifiers.org/clinvar/363238 ^@ NM_005914.3(MCM4):c.1948T>A (p.Leu650Met) http://identifiers.org/clinvar/305410 ^@ NM_001143985.1(BANF1):c.*177G>A http://identifiers.org/clinvar/299266 ^@ NM_001033855.2(DCLRE1C):c.*1408G>A http://identifiers.org/clinvar/299272 ^@ NM_001033855.2(DCLRE1C):c.*1280C>T http://identifiers.org/clinvar/299274 ^@ NM_001033855.2(DCLRE1C):c.*1236A>G http://identifiers.org/clinvar/363242 ^@ NM_005914.3(MCM4):c.*214G>A http://identifiers.org/clinvar/305412 ^@ NM_001143985.1(BANF1):c.*273C>G http://identifiers.org/clinvar/305413 ^@ NM_053054.3(CATSPER1):c.*124_*125delAG http://identifiers.org/clinvar/305415 ^@ NM_053054.3(CATSPER1):c.*23G>A http://identifiers.org/clinvar/363231 ^@ NM_005914.3(MCM4):c.1264C>T (p.Arg422Trp) http://identifiers.org/clinvar/363234 ^@ NM_005914.3(MCM4):c.1578C>G (p.Leu526=) http://identifiers.org/clinvar/299277 ^@ NM_001033855.2(DCLRE1C):c.*1186T>G http://identifiers.org/clinvar/305417 ^@ NM_053054.3(CATSPER1):c.2109G>A (p.Thr703=) http://identifiers.org/clinvar/299278 ^@ NM_001033855.2(DCLRE1C):c.*1174G>A http://identifiers.org/clinvar/363245 ^@ NM_005914.3(MCM4):c.*387T>C http://identifiers.org/clinvar/305423 ^@ NM_053054.3(CATSPER1):c.1748T>G (p.Ile583Ser) http://identifiers.org/clinvar/305424 ^@ NM_053054.3(CATSPER1):c.1544-6C>T http://identifiers.org/clinvar/363237 ^@ NM_005914.3(MCM4):c.1844C>G (p.Ala615Gly) http://identifiers.org/clinvar/363249 ^@ NM_005914.3(MCM4):c.*537T>C http://identifiers.org/clinvar/305425 ^@ NM_053054.3(CATSPER1):c.1544-10G>A http://identifiers.org/clinvar/305432 ^@ NM_053054.3(CATSPER1):c.1384G>A (p.Val462Ile) http://identifiers.org/clinvar/299282 ^@ NM_001033855.2(DCLRE1C):c.*916_*921delTAACAG http://identifiers.org/clinvar/305434 ^@ NM_053054.3(CATSPER1):c.1195G>A (p.Gly399Arg) http://identifiers.org/clinvar/299286 ^@ NM_001033855.2(DCLRE1C):c.*848A>G http://identifiers.org/clinvar/299290 ^@ NM_001033855.2(DCLRE1C):c.*752T>C http://identifiers.org/clinvar/305435 ^@ NM_053054.3(CATSPER1):c.1069C>T (p.Arg357Trp) http://identifiers.org/clinvar/305440 ^@ NM_053054.3(CATSPER1):c.813T>C (p.Asp271=) http://identifiers.org/clinvar/299295 ^@ NM_001033855.2(DCLRE1C):c.*550delA http://identifiers.org/clinvar/363243 ^@ NM_005914.3(MCM4):c.*255A>G http://identifiers.org/clinvar/299297 ^@ NM_001033855.2(DCLRE1C):c.*540A>G http://identifiers.org/clinvar/363255 ^@ NM_005914.3(MCM4):c.*1256A>G http://identifiers.org/clinvar/363257 ^@ NM_003068.4(SNAI2):c.*964G>A http://identifiers.org/clinvar/363258 ^@ NM_003068.4(SNAI2):c.*773C>A http://identifiers.org/clinvar/363262 ^@ NM_003068.4(SNAI2):c.*26C>T http://identifiers.org/clinvar/363263 ^@ NM_003068.4(SNAI2):c.729C>T (p.Cys243=) http://identifiers.org/clinvar/299301 ^@ NM_001033855.2(DCLRE1C):c.*429C>T http://identifiers.org/clinvar/305445 ^@ NM_053054.3(CATSPER1):c.504C>T (p.His168=) http://identifiers.org/clinvar/299304 ^@ NM_001033855.2(DCLRE1C):c.*306G>A http://identifiers.org/clinvar/305448 ^@ NM_053054.3(CATSPER1):c.333C>T (p.Tyr111=) http://identifiers.org/clinvar/363259 ^@ NM_003068.4(SNAI2):c.*340T>G http://identifiers.org/clinvar/363267 ^@ NM_003068.4(SNAI2):c.130C>A (p.Gln44Lys) http://identifiers.org/clinvar/363269 ^@ NM_003068.4(SNAI2):c.-13A>T http://identifiers.org/clinvar/305453 ^@ NM_053054.3(CATSPER1):c.-23delG http://identifiers.org/clinvar/305494 ^@ NM_000391.3(TPP1):c.*1311C>T http://identifiers.org/clinvar/363282 ^@ NM_006269.1(RP1):c.2385C>T (p.Ile795=) http://identifiers.org/clinvar/363264 ^@ NM_003068.4(SNAI2):c.606A>G (p.Gly202=) http://identifiers.org/clinvar/363266 ^@ NM_003068.4(SNAI2):c.219C>T (p.Leu73=) http://identifiers.org/clinvar/363283 ^@ NM_006269.1(RP1):c.2386G>A (p.Gly796Ser) http://identifiers.org/clinvar/305495 ^@ NM_000391.3(TPP1):c.*1302A>T http://identifiers.org/clinvar/363284 ^@ NM_006269.1(RP1):c.2524G>A (p.Val842Met) http://identifiers.org/clinvar/305497 ^@ NM_000391.3(TPP1):c.*1118G>C http://identifiers.org/clinvar/363268 ^@ NM_003068.4(SNAI2):c.-9G>T http://identifiers.org/clinvar/363274 ^@ NM_006269.1(RP1):c.-106G>A http://identifiers.org/clinvar/363281 ^@ NM_006269.1(RP1):c.1980T>A (p.Asn660Lys) http://identifiers.org/clinvar/363286 ^@ NM_006269.1(RP1):c.2894G>T (p.Ser965Ile) http://identifiers.org/clinvar/363292 ^@ NM_006269.1(RP1):c.3579C>T (p.His1193=) http://identifiers.org/clinvar/363295 ^@ NM_006269.1(RP1):c.3968A>G (p.Tyr1323Cys) http://identifiers.org/clinvar/363285 ^@ NM_006269.1(RP1):c.2833G>T (p.Val945Leu) http://identifiers.org/clinvar/305499 ^@ NM_000391.3(TPP1):c.*986C>G http://identifiers.org/clinvar/299306 ^@ NM_001033855.2(DCLRE1C):c.*238A>C http://identifiers.org/clinvar/305502 ^@ NM_000391.3(TPP1):c.*314delT http://identifiers.org/clinvar/305510 ^@ NM_000391.3(TPP1):c.887-5delT http://identifiers.org/clinvar/299308 ^@ NM_001033855.2(DCLRE1C):c.*154G>T http://identifiers.org/clinvar/305458 ^@ NM_024649.4(BBS1):c.235G>A (p.Glu79Lys) http://identifiers.org/clinvar/305459 ^@ NM_024649.4(BBS1):c.432+13C>T http://identifiers.org/clinvar/305460 ^@ NM_024649.4(BBS1):c.447C>T (p.Pro149=) http://identifiers.org/clinvar/363302 ^@ NM_006269.1(RP1):c.4742A>T (p.Lys1581Ile) http://identifiers.org/clinvar/363306 ^@ NM_006269.1(RP1):c.5335A>T (p.Asn1779Tyr) http://identifiers.org/clinvar/363308 ^@ NM_006269.1(RP1):c.5624G>C (p.Gly1875Ala) http://identifiers.org/clinvar/305468 ^@ NM_024649.4(BBS1):c.1180+5G>A http://identifiers.org/clinvar/305472 ^@ NM_024649.4(BBS1):c.1719A>G (p.Gln573=) http://identifiers.org/clinvar/363288 ^@ NM_006269.1(RP1):c.2991T>C (p.Asn997=) http://identifiers.org/clinvar/363289 ^@ NM_006269.1(RP1):c.3036G>C (p.Leu1012=) http://identifiers.org/clinvar/299309 ^@ NM_001033855.2(DCLRE1C):c.*12G>A http://identifiers.org/clinvar/305474 ^@ NM_024649.4(BBS1):c.*10T>A http://identifiers.org/clinvar/299311 ^@ NM_001033855.2(DCLRE1C):c.1692G>C (p.Glu564Asp) http://identifiers.org/clinvar/363296 ^@ NM_006269.1(RP1):c.3999C>T (p.Tyr1333=) http://identifiers.org/clinvar/305476 ^@ NM_024649.4(BBS1):c.*428G>C http://identifiers.org/clinvar/363321 ^@ NM_017813.4(IMPAD1):c.*5804G>A http://identifiers.org/clinvar/305481 ^@ NM_024649.4(BBS1):c.*840A>G http://identifiers.org/clinvar/363324 ^@ NM_017813.4(IMPAD1):c.*5689dupC http://identifiers.org/clinvar/363326 ^@ NM_017813.4(IMPAD1):c.*5512T>C http://identifiers.org/clinvar/363329 ^@ NM_017813.4(IMPAD1):c.*5463G>C http://identifiers.org/clinvar/363299 ^@ NM_006269.1(RP1):c.4563C>T (p.Asn1521=) http://identifiers.org/clinvar/299319 ^@ NM_001033855.2(DCLRE1C):c.737C>T (p.Thr246Ile) http://identifiers.org/clinvar/299321 ^@ NM_001033855.2(DCLRE1C):c.384T>C (p.Asn128=) http://identifiers.org/clinvar/363300 ^@ NM_006269.1(RP1):c.4606C>T (p.Pro1536Ser) http://identifiers.org/clinvar/305482 ^@ NM_024649.4(BBS1):c.*855G>A http://identifiers.org/clinvar/299323 ^@ NM_001081.3(CUBN):c.*883G>A http://identifiers.org/clinvar/299325 ^@ NM_001081.3(CUBN):c.*786T>C http://identifiers.org/clinvar/299326 ^@ NM_001081.3(CUBN):c.*782G>A http://identifiers.org/clinvar/299330 ^@ NM_001081.3(CUBN):c.*601A>G http://identifiers.org/clinvar/305483 ^@ NM_024649.4(BBS1):c.*955G>A http://identifiers.org/clinvar/305519 ^@ NM_006946.2(SPTBN2):c.*228dupT http://identifiers.org/clinvar/299337 ^@ NM_001081.3(CUBN):c.*416G>A http://identifiers.org/clinvar/299338 ^@ NM_001081.3(CUBN):c.*373G>T http://identifiers.org/clinvar/299341 ^@ NM_001081.3(CUBN):c.*329C>G http://identifiers.org/clinvar/299348 ^@ NM_001081.3(CUBN):c.*177C>G http://identifiers.org/clinvar/299353 ^@ NM_001081.3(CUBN):c.*81C>A http://identifiers.org/clinvar/299356 ^@ NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) http://identifiers.org/clinvar/363301 ^@ NM_006269.1(RP1):c.4699A>G (p.Met1567Val) http://identifiers.org/clinvar/363331 ^@ NM_017813.4(IMPAD1):c.*5327C>G http://identifiers.org/clinvar/363304 ^@ NM_006269.1(RP1):c.5074A>C (p.Met1692Leu) http://identifiers.org/clinvar/363333 ^@ NM_017813.4(IMPAD1):c.*5300G>T http://identifiers.org/clinvar/363345 ^@ NM_017813.4(IMPAD1):c.*4123_*4125delATC http://identifiers.org/clinvar/299359 ^@ NM_001081.3(CUBN):c.10466T>G (p.Phe3489Cys) http://identifiers.org/clinvar/305521 ^@ NM_006946.2(SPTBN2):c.*71G>A http://identifiers.org/clinvar/299361 ^@ NM_001081.3(CUBN):c.10363-3A>G http://identifiers.org/clinvar/299368 ^@ NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) http://identifiers.org/clinvar/305525 ^@ NM_006946.2(SPTBN2):c.6896+11G>A http://identifiers.org/clinvar/299372 ^@ NM_001081.3(CUBN):c.10012C>A (p.Gln3338Lys) http://identifiers.org/clinvar/363353 ^@ NM_017813.4(IMPAD1):c.*3204A>G http://identifiers.org/clinvar/363314 ^@ NM_006269.1(RP1):c.*71C>T http://identifiers.org/clinvar/305533 ^@ NM_006946.2(SPTBN2):c.6566C>T (p.Pro2189Leu) http://identifiers.org/clinvar/305535 ^@ NM_006946.2(SPTBN2):c.6431C>T (p.Thr2144Ile) http://identifiers.org/clinvar/363315 ^@ NM_006269.1(RP1):c.*72G>A http://identifiers.org/clinvar/305537 ^@ NM_006946.2(SPTBN2):c.6266G>A (p.Arg2089Lys) http://identifiers.org/clinvar/305542 ^@ NM_006946.2(SPTBN2):c.5884C>T (p.Arg1962Cys) http://identifiers.org/clinvar/299378 ^@ NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) http://identifiers.org/clinvar/363356 ^@ NM_017813.4(IMPAD1):c.*2825C>T http://identifiers.org/clinvar/363317 ^@ NM_006269.1(RP1):c.*179_*181delTTT http://identifiers.org/clinvar/305545 ^@ NM_006946.2(SPTBN2):c.5692G>A (p.Ala1898Thr) http://identifiers.org/clinvar/363358 ^@ NM_017813.4(IMPAD1):c.*2649C>A http://identifiers.org/clinvar/299380 ^@ NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) http://identifiers.org/clinvar/363359 ^@ NM_017813.4(IMPAD1):c.*2608A>C http://identifiers.org/clinvar/305546 ^@ NM_006946.2(SPTBN2):c.5639G>A (p.Arg1880His) http://identifiers.org/clinvar/299382 ^@ NM_001081.3(CUBN):c.9298G>A (p.Asp3100Asn) http://identifiers.org/clinvar/305551 ^@ NM_006946.2(SPTBN2):c.4985+12G>A http://identifiers.org/clinvar/299385 ^@ NM_001081.3(CUBN):c.9036G>A (p.Pro3012=) http://identifiers.org/clinvar/305552 ^@ NM_006946.2(SPTBN2):c.4985+11C>T http://identifiers.org/clinvar/299386 ^@ NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) http://identifiers.org/clinvar/299391 ^@ NM_001081.3(CUBN):c.8908C>T (p.Arg2970Cys) http://identifiers.org/clinvar/305555 ^@ NM_006946.2(SPTBN2):c.4447C>T (p.Arg1483Cys) http://identifiers.org/clinvar/305558 ^@ NM_006946.2(SPTBN2):c.4120G>A (p.Ala1374Thr) http://identifiers.org/clinvar/305560 ^@ NM_006946.2(SPTBN2):c.3823C>T (p.Arg1275Trp) http://identifiers.org/clinvar/363361 ^@ NM_017813.4(IMPAD1):c.*2508T>A http://identifiers.org/clinvar/363363 ^@ NM_017813.4(IMPAD1):c.*2444A>G http://identifiers.org/clinvar/363366 ^@ NM_017813.4(IMPAD1):c.*2323_*2325delATA http://identifiers.org/clinvar/305564 ^@ NM_006946.2(SPTBN2):c.3453A>G (p.Gly1151=) http://identifiers.org/clinvar/299392 ^@ NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) http://identifiers.org/clinvar/363368 ^@ NM_017813.4(IMPAD1):c.*2190G>A http://identifiers.org/clinvar/305570 ^@ NM_006946.2(SPTBN2):c.2834G>A (p.Arg945His) http://identifiers.org/clinvar/363371 ^@ NM_017813.4(IMPAD1):c.*2149G>T http://identifiers.org/clinvar/363319 ^@ NM_006269.1(RP1):c.*260_*261dupTT http://identifiers.org/clinvar/305573 ^@ NM_006946.2(SPTBN2):c.2526C>T (p.Gly842=) http://identifiers.org/clinvar/305578 ^@ NM_006946.2(SPTBN2):c.1972C>T (p.Arg658Trp) http://identifiers.org/clinvar/299394 ^@ NM_001081.3(CUBN):c.8825A>G (p.Asn2942Ser) http://identifiers.org/clinvar/299396 ^@ NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) http://identifiers.org/clinvar/363322 ^@ NM_017813.4(IMPAD1):c.*5752G>A http://identifiers.org/clinvar/305581 ^@ NM_006946.2(SPTBN2):c.1807+13C>T http://identifiers.org/clinvar/363372 ^@ NM_017813.4(IMPAD1):c.*2141T>C http://identifiers.org/clinvar/305583 ^@ NM_006946.2(SPTBN2):c.1720G>A (p.Glu574Lys) http://identifiers.org/clinvar/305593 ^@ NM_006946.2(SPTBN2):c.968A>G (p.Gln323Arg) http://identifiers.org/clinvar/305595 ^@ NM_006946.2(SPTBN2):c.885+5T>C http://identifiers.org/clinvar/363374 ^@ NM_017813.4(IMPAD1):c.*2088A>G http://identifiers.org/clinvar/363383 ^@ NM_017813.4(IMPAD1):c.*1313delC http://identifiers.org/clinvar/299402 ^@ NM_001081.3(CUBN):c.8479G>A (p.Glu2827Lys) http://identifiers.org/clinvar/363323 ^@ NM_017813.4(IMPAD1):c.*5730A>G http://identifiers.org/clinvar/305599 ^@ NM_006946.2(SPTBN2):c.285C>T (p.Leu95=) http://identifiers.org/clinvar/363330 ^@ NM_017813.4(IMPAD1):c.*5395A>G http://identifiers.org/clinvar/305600 ^@ NM_006946.2(SPTBN2):c.249C>T (p.Ser83=) http://identifiers.org/clinvar/299405 ^@ NM_001081.3(CUBN):c.8254G>T (p.Gly2752Cys) http://identifiers.org/clinvar/305604 ^@ NM_006946.2(SPTBN2):c.54G>A (p.Gln18=) http://identifiers.org/clinvar/363387 ^@ NM_017813.4(IMPAD1):c.*1123C>A http://identifiers.org/clinvar/305615 ^@ NM_000920.3(PC):c.3473G>A (p.Arg1158His) http://identifiers.org/clinvar/363334 ^@ NM_017813.4(IMPAD1):c.*5203A>T http://identifiers.org/clinvar/363335 ^@ NM_017813.4(IMPAD1):c.*5193A>G http://identifiers.org/clinvar/299408 ^@ NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) http://identifiers.org/clinvar/305621 ^@ NM_000920.3(PC):c.2292C>G (p.Pro764=) http://identifiers.org/clinvar/299413 ^@ NM_001081.3(CUBN):c.8021G>A (p.Arg2674His) http://identifiers.org/clinvar/299414 ^@ NM_001081.3(CUBN):c.7913-11A>G http://identifiers.org/clinvar/305631 ^@ NM_000920.3(PC):c.879C>T (p.Ser293=) http://identifiers.org/clinvar/363402 ^@ NM_017813.4(IMPAD1):c.988G>A (p.Gly330Ser) http://identifiers.org/clinvar/305635 ^@ NM_000920.3(PC):c.52C>A (p.Arg18=) http://identifiers.org/clinvar/363403 ^@ NM_017813.4(IMPAD1):c.964G>A (p.Glu322Lys) http://identifiers.org/clinvar/299415 ^@ NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) http://identifiers.org/clinvar/299416 ^@ NM_001081.3(CUBN):c.7816C>A (p.Pro2606Thr) http://identifiers.org/clinvar/363405 ^@ NM_017813.4(IMPAD1):c.856A>G (p.Lys286Glu) http://identifiers.org/clinvar/363415 ^@ NM_017813.4(IMPAD1):c.-252G>C http://identifiers.org/clinvar/299418 ^@ NM_001081.3(CUBN):c.7797C>T (p.Cys2599=) http://identifiers.org/clinvar/299424 ^@ NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) http://identifiers.org/clinvar/299426 ^@ NM_001081.3(CUBN):c.7210+9A>G http://identifiers.org/clinvar/363416 ^@ NM_017813.4(IMPAD1):c.-274G>C http://identifiers.org/clinvar/363343 ^@ NM_017813.4(IMPAD1):c.*4264G>A http://identifiers.org/clinvar/363421 ^@ NM_017780.3(CHD7):c.-472G>A http://identifiers.org/clinvar/305636 ^@ NM_000920.3(PC):c.-86A>C http://identifiers.org/clinvar/363351 ^@ NM_017813.4(IMPAD1):c.*3258T>G http://identifiers.org/clinvar/305646 ^@ NM_145200.3(CABP4):c.318C>T (p.Asp106=) http://identifiers.org/clinvar/305653 ^@ NM_145200.3(CABP4):c.524A>G (p.Gln175Arg) http://identifiers.org/clinvar/305664 ^@ NM_145200.3(CABP4):c.*120T>A http://identifiers.org/clinvar/363354 ^@ NM_017813.4(IMPAD1):c.*3193T>C http://identifiers.org/clinvar/363357 ^@ NM_017813.4(IMPAD1):c.*2726T>G http://identifiers.org/clinvar/299428 ^@ NM_001081.3(CUBN):c.7070A>C (p.Tyr2357Ser) http://identifiers.org/clinvar/305667 ^@ NM_145200.3(CABP4):c.*394dupT http://identifiers.org/clinvar/299434 ^@ NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) http://identifiers.org/clinvar/363369 ^@ NM_017813.4(IMPAD1):c.*2181G>A http://identifiers.org/clinvar/305669 ^@ NM_145200.3(CABP4):c.*681A>G http://identifiers.org/clinvar/299440 ^@ NM_001081.3(CUBN):c.6277G>A (p.Gly2093Ser) http://identifiers.org/clinvar/305673 ^@ NM_145200.3(CABP4):c.*1040C>A http://identifiers.org/clinvar/305674 ^@ NM_145200.3(CABP4):c.*1117C>A http://identifiers.org/clinvar/363370 ^@ NM_017813.4(IMPAD1):c.*2165C>T http://identifiers.org/clinvar/363375 ^@ NM_017813.4(IMPAD1):c.*1960A>G http://identifiers.org/clinvar/363425 ^@ NM_017780.3(CHD7):c.-466delAinsGGCGGCAGCG http://identifiers.org/clinvar/305681 ^@ NM_145200.3(CABP4):c.*1697A>G http://identifiers.org/clinvar/305683 ^@ NM_145200.3(CABP4):c.*1827C>T http://identifiers.org/clinvar/363376 ^@ NM_017813.4(IMPAD1):c.*1834A>G http://identifiers.org/clinvar/363380 ^@ NM_017813.4(IMPAD1):c.*1343A>G http://identifiers.org/clinvar/299444 ^@ NM_001081.3(CUBN):c.6124+8C>T http://identifiers.org/clinvar/363428 ^@ NM_017780.3(CHD7):c.-466delAinsGGCGGCGGCGGCG http://identifiers.org/clinvar/305686 ^@ NM_145200.3(CABP4):c.*1854_*1855insCACA http://identifiers.org/clinvar/305685 ^@ NM_145200.3(CABP4):c.*1855_*1858dupTATA http://identifiers.org/clinvar/299445 ^@ NM_001081.3(CUBN):c.6091A>G (p.Thr2031Ala) http://identifiers.org/clinvar/299447 ^@ NM_001081.3(CUBN):c.5967G>C (p.Val1989=) http://identifiers.org/clinvar/305689 ^@ NM_145200.3(CABP4):c.*1856_*1857insCACACA http://identifiers.org/clinvar/305691 ^@ NM_145200.3(CABP4):c.*1857T>C http://identifiers.org/clinvar/305695 ^@ NM_145200.3(CABP4):c.*1858_*1859insTACA http://identifiers.org/clinvar/363437 ^@ NM_017780.3(CHD7):c.-249C>G http://identifiers.org/clinvar/363438 ^@ NM_017780.3(CHD7):c.-230G>C http://identifiers.org/clinvar/363440 ^@ NM_017780.3(CHD7):c.202C>T (p.His68Tyr) http://identifiers.org/clinvar/363382 ^@ NM_017813.4(IMPAD1):c.*1314G>A http://identifiers.org/clinvar/305698 ^@ NM_145200.3(CABP4):c.*1859_*1873delCACACACACACACACinsT http://identifiers.org/clinvar/305697 ^@ NM_145200.3(CABP4):c.*1881_*1884delCACA http://identifiers.org/clinvar/363443 ^@ NM_017780.3(CHD7):c.755C>T (p.Ser252Leu) http://identifiers.org/clinvar/363450 ^@ NM_017780.3(CHD7):c.2066C>T (p.Thr689Met) http://identifiers.org/clinvar/363452 ^@ NM_017780.3(CHD7):c.2238+12A>G http://identifiers.org/clinvar/363388 ^@ NM_017813.4(IMPAD1):c.*1084C>T http://identifiers.org/clinvar/299452 ^@ NM_001081.3(CUBN):c.5862G>A (p.Lys1954=) http://identifiers.org/clinvar/305693 ^@ NM_145200.3(CABP4):c.*1881_*1884dupCACA http://identifiers.org/clinvar/363393 ^@ NM_017813.4(IMPAD1):c.*701C>T http://identifiers.org/clinvar/305704 ^@ NM_145200.3(CABP4):c.*2089T>C http://identifiers.org/clinvar/305705 ^@ NM_145200.3(CABP4):c.*2098C>T http://identifiers.org/clinvar/363397 ^@ NM_017813.4(IMPAD1):c.*358G>A http://identifiers.org/clinvar/363399 ^@ NM_017813.4(IMPAD1):c.*147C>T http://identifiers.org/clinvar/299454 ^@ NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) http://identifiers.org/clinvar/305708 ^@ NM_145200.3(CABP4):c.*2195G>A http://identifiers.org/clinvar/299458 ^@ NM_001081.3(CUBN):c.5569G>A (p.Val1857Met) http://identifiers.org/clinvar/363404 ^@ NM_017813.4(IMPAD1):c.939G>A (p.Gly313=) http://identifiers.org/clinvar/305711 ^@ NM_145200.3(CABP4):c.*2327G>A http://identifiers.org/clinvar/299461 ^@ NM_001081.3(CUBN):c.5343-6A>G http://identifiers.org/clinvar/305727 ^@ NM_003977.3(AIP):c.468+3G>A http://identifiers.org/clinvar/305734 ^@ NM_003977.3(AIP):c.944A>C (p.Gln315Pro) http://identifiers.org/clinvar/363408 ^@ NM_017813.4(IMPAD1):c.355T>C (p.Tyr119His) http://identifiers.org/clinvar/305737 ^@ NM_007103.3(NDUFV1):c.-111T>C http://identifiers.org/clinvar/305741 ^@ NM_007103.3(NDUFV1):c.218C>T (p.Pro73Leu) http://identifiers.org/clinvar/299465 ^@ NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) http://identifiers.org/clinvar/299466 ^@ NM_001081.3(CUBN):c.5302A>G (p.Ile1768Val) http://identifiers.org/clinvar/299467 ^@ NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) http://identifiers.org/clinvar/363453 ^@ NM_017780.3(CHD7):c.2498+12G>T http://identifiers.org/clinvar/363463 ^@ NM_017780.3(CHD7):c.4851T>G (p.Gly1617=) http://identifiers.org/clinvar/299473 ^@ NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) http://identifiers.org/clinvar/363410 ^@ NM_017813.4(IMPAD1):c.-54_-52dupCGG http://identifiers.org/clinvar/363412 ^@ NM_017813.4(IMPAD1):c.-146A>C http://identifiers.org/clinvar/363466 ^@ NM_017780.3(CHD7):c.5390G>C (p.Gly1797Ala) http://identifiers.org/clinvar/363423 ^@ NM_017780.3(CHD7):c.-469G>A http://identifiers.org/clinvar/363419 ^@ NM_017780.3(CHD7):c.-469_-467dupGGC http://identifiers.org/clinvar/305742 ^@ NM_007103.3(NDUFV1):c.326+12G>A http://identifiers.org/clinvar/305748 ^@ NM_007103.3(NDUFV1):c.606G>A (p.Gly202=) http://identifiers.org/clinvar/305758 ^@ NM_007103.3(NDUFV1):c.1378C>T (p.Arg460Trp) http://identifiers.org/clinvar/305761 ^@ NM_002496.3(NDUFS8):c.-98G>A http://identifiers.org/clinvar/363426 ^@ NM_017780.3(CHD7):c.-466delAinsGGCGGCGGCG http://identifiers.org/clinvar/363427 ^@ NM_017780.3(CHD7):c.-466delAinsGGCGGCGGCGGCAGCG http://identifiers.org/clinvar/363441 ^@ NM_017780.3(CHD7):c.444G>A (p.Arg148=) http://identifiers.org/clinvar/299475 ^@ NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) http://identifiers.org/clinvar/363471 ^@ NM_017780.3(CHD7):c.6184C>T (p.Arg2062Trp) http://identifiers.org/clinvar/363472 ^@ NM_017780.3(CHD7):c.6321C>T (p.His2107=) http://identifiers.org/clinvar/305762 ^@ NM_002496.3(NDUFS8):c.-76C>T http://identifiers.org/clinvar/363480 ^@ NM_017780.3(CHD7):c.7551A>G (p.Lys2517=) http://identifiers.org/clinvar/299480 ^@ NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) http://identifiers.org/clinvar/363482 ^@ NM_017780.3(CHD7):c.8364T>C (p.Asp2788=) http://identifiers.org/clinvar/305767 ^@ NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val) http://identifiers.org/clinvar/305769 ^@ NM_002496.3(NDUFS8):c.501+12C>G http://identifiers.org/clinvar/363484 ^@ NM_017780.3(CHD7):c.8580C>T (p.Ser2860=) http://identifiers.org/clinvar/363488 ^@ NM_017780.3(CHD7):c.8960_8962delGGG (p.Gly2987del) http://identifiers.org/clinvar/305775 ^@ NM_002496.3(NDUFS8):c.*26T>G http://identifiers.org/clinvar/299489 ^@ NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) http://identifiers.org/clinvar/305777 ^@ NM_002496.3(NDUFS8):c.*44C>T http://identifiers.org/clinvar/305779 ^@ NM_006019.3(TCIRG1):c.-4-3C>T http://identifiers.org/clinvar/363490 ^@ NM_017780.3(CHD7):c.*96C>A http://identifiers.org/clinvar/363506 ^@ NM_017780.3(CHD7):c.*1577C>G http://identifiers.org/clinvar/299494 ^@ NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) http://identifiers.org/clinvar/305780 ^@ NM_006019.3(TCIRG1):c.82C>T (p.Arg28Trp) http://identifiers.org/clinvar/299501 ^@ NM_001081.3(CUBN):c.2610A>G (p.Glu870=) http://identifiers.org/clinvar/363514 ^@ NM_017780.3(CHD7):c.*1832A>G http://identifiers.org/clinvar/363533 ^@ NM_000370.3(TTPA):c.*1487G>A http://identifiers.org/clinvar/363445 ^@ NM_017780.3(CHD7):c.1030G>A (p.Val344Ile) http://identifiers.org/clinvar/363446 ^@ NM_017780.3(CHD7):c.1423A>T (p.Met475Leu) http://identifiers.org/clinvar/363535 ^@ NM_000370.3(TTPA):c.*1441C>G http://identifiers.org/clinvar/363461 ^@ NM_017780.3(CHD7):c.4645-9T>C http://identifiers.org/clinvar/363462 ^@ NM_017780.3(CHD7):c.4811G>C (p.Ser1604Thr) http://identifiers.org/clinvar/299503 ^@ NM_001081.3(CUBN):c.2536A>G (p.Ile846Val) http://identifiers.org/clinvar/299506 ^@ NM_001081.3(CUBN):c.2447-15T>A http://identifiers.org/clinvar/299508 ^@ NM_001081.3(CUBN):c.2446+11A>G http://identifiers.org/clinvar/363537 ^@ NM_000370.3(TTPA):c.*1394A>G http://identifiers.org/clinvar/363464 ^@ NM_017780.3(CHD7):c.5211-11T>G http://identifiers.org/clinvar/363541 ^@ NM_000370.3(TTPA):c.*1164A>T http://identifiers.org/clinvar/305783 ^@ NM_006019.3(TCIRG1):c.197C>T (p.Thr66Ile) http://identifiers.org/clinvar/305784 ^@ NM_006019.3(TCIRG1):c.303_309delGGAGCGC (p.Glu102Trpfs) http://identifiers.org/clinvar/363544 ^@ NM_000370.3(TTPA):c.*934C>T http://identifiers.org/clinvar/363545 ^@ NM_000370.3(TTPA):c.*932G>A http://identifiers.org/clinvar/299509 ^@ NM_001081.3(CUBN):c.2445C>T (p.Val815=) http://identifiers.org/clinvar/305787 ^@ NM_006019.3(TCIRG1):c.571C>T (p.Arg191Cys) http://identifiers.org/clinvar/363550 ^@ NM_000370.3(TTPA):c.*578T>C http://identifiers.org/clinvar/305788 ^@ NM_006019.3(TCIRG1):c.624C>G (p.Pro208=) http://identifiers.org/clinvar/363552 ^@ NM_000370.3(TTPA):c.*452T>C http://identifiers.org/clinvar/363555 ^@ NM_000370.3(TTPA):c.*286C>G http://identifiers.org/clinvar/305789 ^@ NM_006019.3(TCIRG1):c.630+14G>A http://identifiers.org/clinvar/305790 ^@ NM_006019.3(TCIRG1):c.851G>A (p.Arg284Gln) http://identifiers.org/clinvar/305794 ^@ NM_006019.3(TCIRG1):c.990C>T (p.Pro330=) http://identifiers.org/clinvar/363467 ^@ NM_017780.3(CHD7):c.5440G>A (p.Ala1814Thr) http://identifiers.org/clinvar/305795 ^@ NM_006019.3(TCIRG1):c.1020G>A (p.Ser340=) http://identifiers.org/clinvar/305801 ^@ NM_006019.3(TCIRG1):c.1227C>T (p.His409=) http://identifiers.org/clinvar/363557 ^@ NM_000370.3(TTPA):c.664-4T>G http://identifiers.org/clinvar/363558 ^@ NM_000370.3(TTPA):c.663+11T>C http://identifiers.org/clinvar/299514 ^@ NM_001081.3(CUBN):c.2120G>A (p.Arg707His) http://identifiers.org/clinvar/299516 ^@ NM_001081.3(CUBN):c.2016G>A (p.Pro672=) http://identifiers.org/clinvar/299521 ^@ NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) http://identifiers.org/clinvar/363561 ^@ NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) http://identifiers.org/clinvar/363468 ^@ NM_017780.3(CHD7):c.5633A>G (p.Asp1878Gly) http://identifiers.org/clinvar/305802 ^@ NM_006019.3(TCIRG1):c.1278A>G (p.Arg426=) http://identifiers.org/clinvar/363515 ^@ NM_024596.4(MCPH1):c.-59G>C http://identifiers.org/clinvar/363526 ^@ NM_024596.4(MCPH1):c.1677A>G (p.Lys559=) http://identifiers.org/clinvar/363470 ^@ NM_017780.3(CHD7):c.6112G>A (p.Asp2038Asn) http://identifiers.org/clinvar/363474 ^@ NM_017780.3(CHD7):c.6469A>G (p.Ile2157Val) http://identifiers.org/clinvar/363489 ^@ NM_017780.3(CHD7):c.*19C>A http://identifiers.org/clinvar/299525 ^@ NM_001081.3(CUBN):c.1530+12A>C http://identifiers.org/clinvar/305803 ^@ NM_006019.3(TCIRG1):c.1294G>A (p.Ala432Thr) http://identifiers.org/clinvar/363491 ^@ NM_017780.3(CHD7):c.*127delA http://identifiers.org/clinvar/299529 ^@ NM_001081.3(CUBN):c.1110A>C (p.Leu370=) http://identifiers.org/clinvar/305805 ^@ NM_006019.3(TCIRG1):c.1407C>A (p.Thr469=) http://identifiers.org/clinvar/305806 ^@ NM_006019.3(TCIRG1):c.1508A>G (p.Asn503Ser) http://identifiers.org/clinvar/299534 ^@ NM_001081.3(CUBN):c.923A>C (p.Glu308Ala) http://identifiers.org/clinvar/363492 ^@ NM_017780.3(CHD7):c.*251T>C http://identifiers.org/clinvar/363493 ^@ NM_017780.3(CHD7):c.*293G>C http://identifiers.org/clinvar/299535 ^@ NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) http://identifiers.org/clinvar/299539 ^@ NM_001081.3(CUBN):c.736G>A (p.Val246Ile) http://identifiers.org/clinvar/363527 ^@ NM_024596.4(MCPH1):c.1729G>A (p.Glu577Lys) http://identifiers.org/clinvar/305814 ^@ NM_006019.3(TCIRG1):c.2028C>T (p.Ala676=) http://identifiers.org/clinvar/305815 ^@ NM_006019.3(TCIRG1):c.2119-13A>T http://identifiers.org/clinvar/363576 ^@ NM_004820.4(CYP7B1):c.*337T>G http://identifiers.org/clinvar/363582 ^@ NM_004820.4(CYP7B1):c.971G>A (p.Arg324His) http://identifiers.org/clinvar/299540 ^@ NM_001081.3(CUBN):c.735C>T (p.Cys245=) http://identifiers.org/clinvar/305817 ^@ NM_006019.3(TCIRG1):c.2162T>A (p.Ile721Asn) http://identifiers.org/clinvar/305823 ^@ NM_006019.3(TCIRG1):c.2475C>A (p.Phe825Leu) http://identifiers.org/clinvar/299544 ^@ NM_001081.3(CUBN):c.387+13C>T http://identifiers.org/clinvar/299546 ^@ NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) http://identifiers.org/clinvar/305825 ^@ NM_006019.3(TCIRG1):c.*34G>A http://identifiers.org/clinvar/305827 ^@ NM_002180.2(IGHMBP2):c.-68T>C http://identifiers.org/clinvar/299549 ^@ NM_001081.3(CUBN):c.-42G>T http://identifiers.org/clinvar/299552 ^@ NM_201590.2(CACNB2):c.192G>A (p.Ala64=) http://identifiers.org/clinvar/299554 ^@ NM_201590.2(CACNB2):c.258C>A (p.Ile86=) http://identifiers.org/clinvar/305828 ^@ NM_002180.2(IGHMBP2):c.-28C>A http://identifiers.org/clinvar/363495 ^@ NM_017780.3(CHD7):c.*505C>T http://identifiers.org/clinvar/363589 ^@ NM_004820.4(CYP7B1):c.123-9dupT http://identifiers.org/clinvar/363591 ^@ NM_004820.4(CYP7B1):c.-11G>A http://identifiers.org/clinvar/305829 ^@ NM_002180.2(IGHMBP2):c.-4G>A http://identifiers.org/clinvar/305833 ^@ NM_002180.2(IGHMBP2):c.547+9T>G http://identifiers.org/clinvar/363594 ^@ NM_004820.4(CYP7B1):c.-99G>C http://identifiers.org/clinvar/305850 ^@ NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val) http://identifiers.org/clinvar/305855 ^@ NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) http://identifiers.org/clinvar/363497 ^@ NM_017780.3(CHD7):c.*659T>C http://identifiers.org/clinvar/299555 ^@ NM_201590.2(CACNB2):c.264C>T (p.Phe88=) http://identifiers.org/clinvar/299566 ^@ NM_201590.2(CACNB2):c.1632T>C (p.Ser544=) http://identifiers.org/clinvar/363499 ^@ NM_017780.3(CHD7):c.*839A>G http://identifiers.org/clinvar/363500 ^@ NM_017780.3(CHD7):c.*965G>A http://identifiers.org/clinvar/363502 ^@ NM_017780.3(CHD7):c.*1444T>G http://identifiers.org/clinvar/363503 ^@ NM_017780.3(CHD7):c.*1469G>T http://identifiers.org/clinvar/363504 ^@ NM_017780.3(CHD7):c.*1495C>T http://identifiers.org/clinvar/363569 ^@ NM_024596.4(MCPH1):c.*277A>C http://identifiers.org/clinvar/305859 ^@ NM_002180.2(IGHMBP2):c.2683A>G (p.Asn895Asp) http://identifiers.org/clinvar/363573 ^@ NM_024596.4(MCPH1):c.*502T>C http://identifiers.org/clinvar/299568 ^@ NM_201590.2(CACNB2):c.*10delG http://identifiers.org/clinvar/305872 ^@ NM_002180.2(IGHMBP2):c.*427C>T http://identifiers.org/clinvar/299573 ^@ NM_201590.2(CACNB2):c.*36delG http://identifiers.org/clinvar/299588 ^@ NM_201590.2(CACNB2):c.*595C>A http://identifiers.org/clinvar/363597 ^@ NM_020361.4(CPA6):c.*260A>C http://identifiers.org/clinvar/305873 ^@ NM_002180.2(IGHMBP2):c.*466G>A http://identifiers.org/clinvar/363603 ^@ NM_020361.4(CPA6):c.1077G>A (p.Gln359=) http://identifiers.org/clinvar/363508 ^@ NM_017780.3(CHD7):c.*1644A>G http://identifiers.org/clinvar/305875 ^@ NM_002180.2(IGHMBP2):c.*648G>T http://identifiers.org/clinvar/363607 ^@ NM_020361.4(CPA6):c.791G>A (p.Arg264His) http://identifiers.org/clinvar/363616 ^@ NM_020361.4(CPA6):c.-45C>A http://identifiers.org/clinvar/363532 ^@ NM_000370.3(TTPA):c.*1598C>T http://identifiers.org/clinvar/363618 ^@ NM_020361.4(CPA6):c.-160delT http://identifiers.org/clinvar/363536 ^@ NM_000370.3(TTPA):c.*1404G>A http://identifiers.org/clinvar/363621 ^@ NM_000503.5(EYA1):c.*1890A>G http://identifiers.org/clinvar/305876 ^@ NM_002180.2(IGHMBP2):c.*665C>T http://identifiers.org/clinvar/305883 ^@ NM_012309.4(SHANK2):c.912+8667A>C http://identifiers.org/clinvar/299591 ^@ NM_201590.2(CACNB2):c.*608T>A http://identifiers.org/clinvar/363622 ^@ NM_000503.5(EYA1):c.*1672T>A http://identifiers.org/clinvar/363540 ^@ NM_000370.3(TTPA):c.*1179_*1181delATA http://identifiers.org/clinvar/305887 ^@ NM_012309.4(SHANK2):c.912+7883T>C http://identifiers.org/clinvar/363623 ^@ NM_000503.5(EYA1):c.*1598A>C http://identifiers.org/clinvar/305888 ^@ NM_012309.4(SHANK2):c.912+7705A>G http://identifiers.org/clinvar/305889 ^@ NM_012309.4(SHANK2):c.912+7221T>C http://identifiers.org/clinvar/305894 ^@ NM_012309.4(SHANK2):c.912+5229C>A http://identifiers.org/clinvar/299589 ^@ NM_201590.2(CACNB2):c.*608_*609delTA http://identifiers.org/clinvar/299592 ^@ NM_201590.2(CACNB2):c.*608_*609delTAinsAT http://identifiers.org/clinvar/299594 ^@ NM_201590.2(CACNB2):c.*609A>T http://identifiers.org/clinvar/305895 ^@ NM_012309.4(SHANK2):c.912+5223C>T http://identifiers.org/clinvar/299599 ^@ NM_201590.2(CACNB2):c.*694delG http://identifiers.org/clinvar/305897 ^@ NM_012309.4(SHANK2):c.912+3911C>G http://identifiers.org/clinvar/305906 ^@ NM_012309.4(SHANK2):c.900C>T (p.His300=) http://identifiers.org/clinvar/299602 ^@ NM_201590.2(CACNB2):c.*795_*799dupCTTGA http://identifiers.org/clinvar/305907 ^@ NM_012309.4(SHANK2):c.820G>A (p.Val274Ile) http://identifiers.org/clinvar/305913 ^@ NM_012309.4(SHANK2):c.613G>T (p.Ala205Ser) http://identifiers.org/clinvar/299605 ^@ NM_201590.2(CACNB2):c.*913T>A http://identifiers.org/clinvar/305918 ^@ NM_012309.4(SHANK2):c.483+13C>T http://identifiers.org/clinvar/299608 ^@ NM_201590.2(CACNB2):c.*1110C>T http://identifiers.org/clinvar/299613 ^@ NM_201590.2(CACNB2):c.*1588C>G http://identifiers.org/clinvar/299617 ^@ NM_201590.2(CACNB2):c.*1723C>T http://identifiers.org/clinvar/305920 ^@ NM_012309.4(SHANK2):c.396C>A (p.Gly132=) http://identifiers.org/clinvar/299621 ^@ NM_178161.2(PTF1A):c.102C>T (p.Asp34=) http://identifiers.org/clinvar/305929 ^@ NM_012309.4(SHANK2):c.51C>T (p.Ser17=) http://identifiers.org/clinvar/305932 ^@ NM_001360.2(DHCR7):c.*790C>T http://identifiers.org/clinvar/305933 ^@ NM_001360.2(DHCR7):c.*779T>C http://identifiers.org/clinvar/363624 ^@ NM_000503.5(EYA1):c.*1581A= http://identifiers.org/clinvar/363625 ^@ NM_000503.5(EYA1):c.*1565_*1568dupATCA http://identifiers.org/clinvar/363636 ^@ NM_000503.5(EYA1):c.*800T>C http://identifiers.org/clinvar/363641 ^@ NM_000503.5(EYA1):c.*509_*512delAAAA http://identifiers.org/clinvar/305936 ^@ NM_001360.2(DHCR7):c.*734A>G http://identifiers.org/clinvar/305948 ^@ NM_001360.2(DHCR7):c.*161_*172delCTGTTCCTTGCT http://identifiers.org/clinvar/305953 ^@ NM_001360.2(DHCR7):c.1273G>A (p.Gly425Ser) http://identifiers.org/clinvar/299622 ^@ NM_178161.2(PTF1A):c.162C>T (p.Ser54=) http://identifiers.org/clinvar/305956 ^@ NM_001360.2(DHCR7):c.964-1G>T http://identifiers.org/clinvar/363551 ^@ NM_000370.3(TTPA):c.*554C>T http://identifiers.org/clinvar/363554 ^@ NM_000370.3(TTPA):c.*292A>G http://identifiers.org/clinvar/305961 ^@ NM_001360.2(DHCR7):c.-6-4G>A http://identifiers.org/clinvar/305962 ^@ NM_001360.2(DHCR7):c.-23T>C http://identifiers.org/clinvar/363560 ^@ NM_000370.3(TTPA):c.616G>A (p.Val206Ile) http://identifiers.org/clinvar/363642 ^@ NM_000503.5(EYA1):c.*442G>A http://identifiers.org/clinvar/363518 ^@ NM_024596.4(MCPH1):c.115-14C>T http://identifiers.org/clinvar/363643 ^@ NM_000503.5(EYA1):c.*353C>T http://identifiers.org/clinvar/363652 ^@ NM_000503.5(EYA1):c.923G>A (p.Arg308Gln) http://identifiers.org/clinvar/363657 ^@ NM_000503.5(EYA1):c.648G>A (p.Pro216=) http://identifiers.org/clinvar/363522 ^@ NM_024596.4(MCPH1):c.706G>C (p.Asp236His) http://identifiers.org/clinvar/305968 ^@ NM_001360.2(DHCR7):c.-209G>A http://identifiers.org/clinvar/305972 ^@ NM_001145308.4(LRTOMT):c.-762C>A http://identifiers.org/clinvar/305978 ^@ NM_001145308.4(LRTOMT):c.-481G>T http://identifiers.org/clinvar/305983 ^@ NM_001145308.4(LRTOMT):c.-305G>A http://identifiers.org/clinvar/305990 ^@ NM_001145308.4(LRTOMT):c.189G>A (p.Thr63=) http://identifiers.org/clinvar/299634 ^@ NM_178161.2(PTF1A):c.*306C>G http://identifiers.org/clinvar/299638 ^@ NM_017433.4(MYO3A):c.-189C>G http://identifiers.org/clinvar/299640 ^@ NM_017433.4(MYO3A):c.-104-14delG http://identifiers.org/clinvar/299649 ^@ NM_017433.4(MYO3A):c.906G>A (p.Thr302=) http://identifiers.org/clinvar/305992 ^@ NM_001145308.4(LRTOMT):c.276C>T (p.Pro92=) http://identifiers.org/clinvar/299652 ^@ NM_017433.4(MYO3A):c.1170+15G>A http://identifiers.org/clinvar/299661 ^@ NM_017433.4(MYO3A):c.2089T>G (p.Leu697Val) http://identifiers.org/clinvar/305993 ^@ NM_001145308.4(LRTOMT):c.459G>A (p.Leu153=) http://identifiers.org/clinvar/363662 ^@ NM_000503.5(EYA1):c.203-15G>T http://identifiers.org/clinvar/363663 ^@ NM_000503.5(EYA1):c.196G>T (p.Gly66Cys) http://identifiers.org/clinvar/363664 ^@ NM_000503.5(EYA1):c.159T>C (p.Ala53=) http://identifiers.org/clinvar/299665 ^@ NM_017433.4(MYO3A):c.2870A>G (p.Glu957Gly) http://identifiers.org/clinvar/363524 ^@ NM_024596.4(MCPH1):c.1291C>T (p.Pro431Ser) http://identifiers.org/clinvar/363665 ^@ NM_000503.5(EYA1):c.-47C>A http://identifiers.org/clinvar/363525 ^@ NM_024596.4(MCPH1):c.1403C>A (p.Thr468Asn) http://identifiers.org/clinvar/363528 ^@ NM_024596.4(MCPH1):c.1779G>C (p.Glu593Asp) http://identifiers.org/clinvar/305994 ^@ NM_001145308.4(LRTOMT):c.503C>T (p.Thr168Met) http://identifiers.org/clinvar/305999 ^@ NM_001145308.4(LRTOMT):c.780T>G (p.Cys260Trp) http://identifiers.org/clinvar/363574 ^@ NM_004820.4(CYP7B1):c.*529A>G http://identifiers.org/clinvar/363580 ^@ NM_004820.4(CYP7B1):c.1233G>A (p.Glu411=) http://identifiers.org/clinvar/299667 ^@ NM_017433.4(MYO3A):c.3255C>T (p.Ser1085=) http://identifiers.org/clinvar/306003 ^@ NM_001145308.4(LRTOMT):c.872G>A (p.Gly291Asp) http://identifiers.org/clinvar/363675 ^@ NM_000503.5(EYA1):c.-326G>T http://identifiers.org/clinvar/306006 ^@ NM_001145308.4(LRTOMT):c.*336C>T http://identifiers.org/clinvar/306012 ^@ NM_001145308.4(LRTOMT):c.*1116G>A http://identifiers.org/clinvar/306013 ^@ NM_001145308.4(LRTOMT):c.*1160T>C http://identifiers.org/clinvar/299672 ^@ NM_017433.4(MYO3A):c.3661C>G (p.Leu1221Val) http://identifiers.org/clinvar/299673 ^@ NM_017433.4(MYO3A):c.3757T>C (p.Ser1253Pro) http://identifiers.org/clinvar/299679 ^@ NM_017433.4(MYO3A):c.4530C>T (p.Tyr1510=) http://identifiers.org/clinvar/363581 ^@ NM_004820.4(CYP7B1):c.1018C>T (p.His340Tyr) http://identifiers.org/clinvar/299680 ^@ NM_017433.4(MYO3A):c.4743G>A (p.Ala1581=) http://identifiers.org/clinvar/306014 ^@ NM_001145308.4(LRTOMT):c.*1185G>A http://identifiers.org/clinvar/363697 ^@ NM_017866.5(TMEM70):c.*217A>C http://identifiers.org/clinvar/306021 ^@ NM_001145308.4(LRTOMT):c.*1810A>T http://identifiers.org/clinvar/306022 ^@ NM_016725.2(FOLR1):c.-122C>G http://identifiers.org/clinvar/306025 ^@ NM_016725.2(FOLR1):c.588C>T (p.Ser196=) http://identifiers.org/clinvar/363699 ^@ NM_017866.5(TMEM70):c.*413T>C http://identifiers.org/clinvar/363701 ^@ NM_017866.5(TMEM70):c.*456T>G http://identifiers.org/clinvar/363583 ^@ NM_004820.4(CYP7B1):c.957T>C (p.Arg319=) http://identifiers.org/clinvar/363586 ^@ NM_004820.4(CYP7B1):c.349A>G (p.Lys117Glu) http://identifiers.org/clinvar/363705 ^@ NM_017866.5(TMEM70):c.*611T>G http://identifiers.org/clinvar/363706 ^@ NM_017866.5(TMEM70):c.*657C>A http://identifiers.org/clinvar/363710 ^@ NM_017866.5(TMEM70):c.*771G>A http://identifiers.org/clinvar/306028 ^@ NM_005472.4(KCNE3):c.*2353C>T http://identifiers.org/clinvar/363531 ^@ NM_024596.4(MCPH1):c.1987G>A (p.Val663Ile) http://identifiers.org/clinvar/363565 ^@ NM_024596.4(MCPH1):c.*86A>G http://identifiers.org/clinvar/306029 ^@ NM_005472.4(KCNE3):c.*2343C>G http://identifiers.org/clinvar/363566 ^@ NM_024596.4(MCPH1):c.*181_*184delCTGT http://identifiers.org/clinvar/363718 ^@ NM_018972.2(GDAP1):c.-51_-49delGAG http://identifiers.org/clinvar/306033 ^@ NM_005472.4(KCNE3):c.*2096C>T http://identifiers.org/clinvar/306034 ^@ NM_005472.4(KCNE3):c.*2019C>T http://identifiers.org/clinvar/363719 ^@ NM_018972.2(GDAP1):c.374G>A (p.Arg125Gln) http://identifiers.org/clinvar/306036 ^@ NM_005472.4(KCNE3):c.*1815C>T http://identifiers.org/clinvar/306037 ^@ NM_005472.4(KCNE3):c.*1754A>T http://identifiers.org/clinvar/363568 ^@ NM_024596.4(MCPH1):c.*199G>A http://identifiers.org/clinvar/306041 ^@ NM_005472.4(KCNE3):c.*1514_*1515dupAA http://identifiers.org/clinvar/306042 ^@ NM_005472.4(KCNE3):c.*1510A>C http://identifiers.org/clinvar/363721 ^@ NM_018972.2(GDAP1):c.*357A>G http://identifiers.org/clinvar/306048 ^@ NM_005472.4(KCNE3):c.*1393G>T http://identifiers.org/clinvar/363723 ^@ NM_018972.2(GDAP1):c.*561C>G http://identifiers.org/clinvar/363733 ^@ NM_018972.2(GDAP1):c.*931A>G http://identifiers.org/clinvar/299683 ^@ NM_017433.4(MYO3A):c.*246C>T http://identifiers.org/clinvar/306064 ^@ NM_005472.4(KCNE3):c.*909_*910delCT http://identifiers.org/clinvar/299685 ^@ NM_017433.4(MYO3A):c.*327G>A http://identifiers.org/clinvar/363598 ^@ NM_020361.4(CPA6):c.*242T>C http://identifiers.org/clinvar/306068 ^@ NM_005472.4(KCNE3):c.*767T>C http://identifiers.org/clinvar/306078 ^@ NM_005472.4(KCNE3):c.*161C>T http://identifiers.org/clinvar/306083 ^@ NM_006755.1(TALDO1):c.-37T>C http://identifiers.org/clinvar/363734 ^@ NM_018972.2(GDAP1):c.*934_*935insTA http://identifiers.org/clinvar/363736 ^@ NM_018972.2(GDAP1):c.*1030T>C http://identifiers.org/clinvar/299688 ^@ NM_017433.4(MYO3A):c.*422C>G http://identifiers.org/clinvar/306086 ^@ NM_006755.1(TALDO1):c.-30C>T http://identifiers.org/clinvar/299696 ^@ NM_014317.4(PDSS1):c.163-12T>C http://identifiers.org/clinvar/363743 ^@ NM_018972.2(GDAP1):c.*1430T>A http://identifiers.org/clinvar/306092 ^@ NM_001235.3(SERPINH1):c.-191A>G http://identifiers.org/clinvar/363601 ^@ NM_020361.4(CPA6):c.1127-16_1127-15dupTT http://identifiers.org/clinvar/306095 ^@ NM_001235.3(SERPINH1):c.-73G>A http://identifiers.org/clinvar/363608 ^@ NM_020361.4(CPA6):c.715A>G (p.Asn239Asp) http://identifiers.org/clinvar/306096 ^@ NM_001235.3(SERPINH1):c.-19C>T http://identifiers.org/clinvar/306101 ^@ NM_001235.3(SERPINH1):c.481A>C (p.Ile161Leu) http://identifiers.org/clinvar/363748 ^@ NM_018972.2(GDAP1):c.*1639A>G http://identifiers.org/clinvar/363752 ^@ NM_018972.2(GDAP1):c.*1855A>G http://identifiers.org/clinvar/299697 ^@ NM_014317.4(PDSS1):c.243C>T (p.Thr81=) http://identifiers.org/clinvar/306103 ^@ NM_001235.3(SERPINH1):c.492C>T (p.Arg164=) http://identifiers.org/clinvar/299703 ^@ NM_014317.4(PDSS1):c.*47A>G http://identifiers.org/clinvar/363756 ^@ NM_018972.2(GDAP1):c.*2170A>G http://identifiers.org/clinvar/363757 ^@ NM_018972.2(GDAP1):c.*2210C>T http://identifiers.org/clinvar/363610 ^@ NM_020361.4(CPA6):c.505T>C (p.Tyr169His) http://identifiers.org/clinvar/363611 ^@ NM_020361.4(CPA6):c.326T>C (p.Ile109Thr) http://identifiers.org/clinvar/306105 ^@ NM_001235.3(SERPINH1):c.598C>T (p.Leu200=) http://identifiers.org/clinvar/306108 ^@ NM_001235.3(SERPINH1):c.807C>T (p.Ile269=) http://identifiers.org/clinvar/363612 ^@ NM_020361.4(CPA6):c.318G>C (p.Lys106Asn) http://identifiers.org/clinvar/363620 ^@ NM_020361.4(CPA6):c.-247C>A http://identifiers.org/clinvar/363626 ^@ NM_000503.5(EYA1):c.*1372_*1375dupACAA http://identifiers.org/clinvar/299704 ^@ NM_014317.4(PDSS1):c.*76C>T http://identifiers.org/clinvar/363631 ^@ NM_000503.5(EYA1):c.*1220_*1222delTTA http://identifiers.org/clinvar/363758 ^@ NM_018972.2(GDAP1):c.*2214A>G http://identifiers.org/clinvar/306110 ^@ NM_001235.3(SERPINH1):c.955-6C>A http://identifiers.org/clinvar/306119 ^@ NM_001235.3(SERPINH1):c.*490G>A http://identifiers.org/clinvar/299707 ^@ NM_014317.4(PDSS1):c.*262T>C http://identifiers.org/clinvar/299712 ^@ NM_014915.2(ANKRD26):c.*1175C>T http://identifiers.org/clinvar/299718 ^@ NM_014915.2(ANKRD26):c.*815dupT http://identifiers.org/clinvar/363635 ^@ NM_000503.5(EYA1):c.*848G>A http://identifiers.org/clinvar/306120 ^@ NM_001235.3(SERPINH1):c.*511G>A http://identifiers.org/clinvar/306121 ^@ NM_001235.3(SERPINH1):c.*525C>A http://identifiers.org/clinvar/299721 ^@ NM_014915.2(ANKRD26):c.*530C>G http://identifiers.org/clinvar/299723 ^@ NM_014915.2(ANKRD26):c.*142G>A http://identifiers.org/clinvar/363637 ^@ NM_000503.5(EYA1):c.*784T>C http://identifiers.org/clinvar/306122 ^@ NM_001235.3(SERPINH1):c.*531C>G http://identifiers.org/clinvar/363647 ^@ NM_000503.5(EYA1):c.1701C>T (p.His567=) http://identifiers.org/clinvar/363655 ^@ NM_000503.5(EYA1):c.782C>T (p.Pro261Leu) http://identifiers.org/clinvar/306123 ^@ NM_001235.3(SERPINH1):c.*556G>A http://identifiers.org/clinvar/363658 ^@ NM_000503.5(EYA1):c.630T>C (p.Ser210=) http://identifiers.org/clinvar/363661 ^@ NM_000503.5(EYA1):c.325T>C (p.Tyr109His) http://identifiers.org/clinvar/363676 ^@ NM_000503.5(EYA1):c.-340G>T http://identifiers.org/clinvar/299734 ^@ NM_014915.2(ANKRD26):c.3655-4T>C http://identifiers.org/clinvar/363761 ^@ NM_018972.2(GDAP1):c.*2463A>G http://identifiers.org/clinvar/363762 ^@ NM_018972.2(GDAP1):c.*2553dupT http://identifiers.org/clinvar/363763 ^@ NM_018972.2(GDAP1):c.*2723T>C http://identifiers.org/clinvar/306130 ^@ NM_006755.1(TALDO1):c.402C>T (p.Ile134=) http://identifiers.org/clinvar/306133 ^@ NM_006755.1(TALDO1):c.476A>G (p.Gln159Arg) http://identifiers.org/clinvar/306137 ^@ NM_006755.1(TALDO1):c.801C>T (p.Asn267=) http://identifiers.org/clinvar/306140 ^@ NM_006755.1(TALDO1):c.971G>A (p.Arg324Gln) http://identifiers.org/clinvar/363678 ^@ NM_000503.5(EYA1):c.-454G>A http://identifiers.org/clinvar/363687 ^@ NM_017866.5(TMEM70):c.-23C>T http://identifiers.org/clinvar/363764 ^@ NM_018972.2(GDAP1):c.*2730_*2731insAA http://identifiers.org/clinvar/306142 ^@ NM_006755.1(TALDO1):c.*9T>C http://identifiers.org/clinvar/363689 ^@ NM_017866.5(TMEM70):c.128G>A (p.Ser43Asn) http://identifiers.org/clinvar/306159 ^@ NM_000260.3(MYO7A):c.351G>T (p.Glu117Asp) http://identifiers.org/clinvar/363765 ^@ NM_018972.2(GDAP1):c.*2730_*2731insAAA http://identifiers.org/clinvar/363691 ^@ NM_017866.5(TMEM70):c.534T>C (p.Thr178=) http://identifiers.org/clinvar/363692 ^@ NM_017866.5(TMEM70):c.*18C>T http://identifiers.org/clinvar/306171 ^@ NM_000260.3(MYO7A):c.2057G>A (p.Arg686His) http://identifiers.org/clinvar/363693 ^@ NM_017866.5(TMEM70):c.*24C>T http://identifiers.org/clinvar/299736 ^@ NM_014915.2(ANKRD26):c.3286C>T (p.Arg1096Trp) http://identifiers.org/clinvar/299738 ^@ NM_014915.2(ANKRD26):c.2787C>T (p.Asp929=) http://identifiers.org/clinvar/299741 ^@ NM_014915.2(ANKRD26):c.1986-3dupT http://identifiers.org/clinvar/363694 ^@ NM_017866.5(TMEM70):c.*29G>A http://identifiers.org/clinvar/306173 ^@ NM_000260.3(MYO7A):c.2146C>G (p.His716Asp) http://identifiers.org/clinvar/306175 ^@ NM_000260.3(MYO7A):c.2372G>A (p.Arg791His) http://identifiers.org/clinvar/363695 ^@ NM_017866.5(TMEM70):c.*169A>G http://identifiers.org/clinvar/363696 ^@ NM_017866.5(TMEM70):c.*196G>A http://identifiers.org/clinvar/363703 ^@ NM_017866.5(TMEM70):c.*502C>A http://identifiers.org/clinvar/363704 ^@ NM_017866.5(TMEM70):c.*571C>T http://identifiers.org/clinvar/363775 ^@ NM_000318.2(PEX2):c.*2446C>T http://identifiers.org/clinvar/363781 ^@ NM_000318.2(PEX2):c.*2142A>G http://identifiers.org/clinvar/363711 ^@ NM_017866.5(TMEM70):c.*785G>A http://identifiers.org/clinvar/363782 ^@ NM_000318.2(PEX2):c.*2057G>A http://identifiers.org/clinvar/363783 ^@ NM_000318.2(PEX2):c.*2007A>T http://identifiers.org/clinvar/363790 ^@ NM_000318.2(PEX2):c.*1716A>G http://identifiers.org/clinvar/306177 ^@ NM_000260.3(MYO7A):c.2507G>A (p.Arg836His) http://identifiers.org/clinvar/306183 ^@ NM_000260.3(MYO7A):c.3662C>G (p.Pro1221Arg) http://identifiers.org/clinvar/306185 ^@ NM_000260.3(MYO7A):c.4039C>T (p.Arg1347Cys) http://identifiers.org/clinvar/363712 ^@ NM_017866.5(TMEM70):c.*892A>G http://identifiers.org/clinvar/363715 ^@ NM_017866.5(TMEM70):c.*942G>T http://identifiers.org/clinvar/299743 ^@ NM_014915.2(ANKRD26):c.1868G>A (p.Arg623Gln) http://identifiers.org/clinvar/299744 ^@ NM_014915.2(ANKRD26):c.1727delA (p.Asp576Valfs) http://identifiers.org/clinvar/363793 ^@ NM_000318.2(PEX2):c.*1561G>A http://identifiers.org/clinvar/306187 ^@ NM_000260.3(MYO7A):c.4280C>T (p.Thr1427Met) http://identifiers.org/clinvar/363797 ^@ NM_000318.2(PEX2):c.*1242A>G http://identifiers.org/clinvar/303371 ^@ NM_145014.2(HYLS1):c.*368T>C http://identifiers.org/clinvar/304224 ^@ NM_000218.2(KCNQ1):c.1393+28111T>G http://identifiers.org/clinvar/304229 ^@ NM_000218.2(KCNQ1):c.1794+12C>T http://identifiers.org/clinvar/320330 ^@ NM_001605.2(AARS):c.2378G>C (p.Arg793Thr) http://identifiers.org/clinvar/303372 ^@ NM_016952.4(CDON):c.*4097A>G http://identifiers.org/clinvar/320339 ^@ NM_001605.2(AARS):c.1596C>A (p.Thr532=) http://identifiers.org/clinvar/320344 ^@ NM_001605.2(AARS):c.1253A>G (p.Tyr418Cys) http://identifiers.org/clinvar/310035 ^@ NM_000552.4(VWF):c.7947C>T (p.Cys2649=) http://identifiers.org/clinvar/320352 ^@ NM_001605.2(AARS):c.561C>T (p.Cys187=) http://identifiers.org/clinvar/320356 ^@ NM_001605.2(AARS):c.64G>A (p.Glu22Lys) http://identifiers.org/clinvar/320367 ^@ NM_015386.2(COG4):c.2067C>T (p.Val689=) http://identifiers.org/clinvar/310037 ^@ NM_000552.4(VWF):c.7790T>A (p.Ile2597Asn) http://identifiers.org/clinvar/310048 ^@ NM_000552.4(VWF):c.6902-5T>A http://identifiers.org/clinvar/310050 ^@ NM_000552.4(VWF):c.6756G>A (p.Glu2252=) http://identifiers.org/clinvar/310051 ^@ NM_000552.4(VWF):c.6611C>T (p.Pro2204Leu) http://identifiers.org/clinvar/310054 ^@ NM_000552.4(VWF):c.6043G>A (p.Glu2015Lys) http://identifiers.org/clinvar/320370 ^@ NM_015386.2(COG4):c.1631C>T (p.Ala544Val) http://identifiers.org/clinvar/304234 ^@ NM_000218.2(KCNQ1):c.*160C>A http://identifiers.org/clinvar/310059 ^@ NM_000552.4(VWF):c.5533G>A (p.Asp1845Asn) http://identifiers.org/clinvar/320373 ^@ NM_015386.2(COG4):c.1481+11C>T http://identifiers.org/clinvar/304242 ^@ NM_000218.2(KCNQ1):c.*350G>A http://identifiers.org/clinvar/304244 ^@ NM_000218.2(KCNQ1):c.*391G>A http://identifiers.org/clinvar/304249 ^@ NM_000218.2(KCNQ1):c.*479G>A http://identifiers.org/clinvar/304250 ^@ NM_000218.2(KCNQ1):c.*482G>A http://identifiers.org/clinvar/303373 ^@ NM_016952.4(CDON):c.*4080G>A http://identifiers.org/clinvar/304252 ^@ NM_000218.2(KCNQ1):c.*554T>G http://identifiers.org/clinvar/320378 ^@ NM_015386.2(COG4):c.591A>G (p.Gln197=) http://identifiers.org/clinvar/320379 ^@ NM_015386.2(COG4):c.513G>A (p.Ser171=) http://identifiers.org/clinvar/320381 ^@ NM_015386.2(COG4):c.387C>A (p.Ala129=) http://identifiers.org/clinvar/304260 ^@ NM_000218.2(KCNQ1):c.*806C>T http://identifiers.org/clinvar/320387 ^@ NM_000353.2(TAT):c.*1066G>A http://identifiers.org/clinvar/304282 ^@ NM_000510.2(FSHB):c.*551G>A http://identifiers.org/clinvar/303374 ^@ NM_016952.4(CDON):c.*4052C>T http://identifiers.org/clinvar/304294 ^@ NM_000280.4(PAX6):c.*4533T>C http://identifiers.org/clinvar/310062 ^@ NM_000552.4(VWF):c.4304A>G (p.Asn1435Ser) http://identifiers.org/clinvar/310065 ^@ NM_000552.4(VWF):c.4007G>A (p.Arg1336Gln) http://identifiers.org/clinvar/310082 ^@ NM_000552.4(VWF):c.1730-5C>T http://identifiers.org/clinvar/310108 ^@ NM_001065.3(TNFRSF1A):c.1058-8C>G http://identifiers.org/clinvar/320391 ^@ NM_000353.2(TAT):c.*852G>A http://identifiers.org/clinvar/320392 ^@ NM_000353.2(TAT):c.*813G>C http://identifiers.org/clinvar/320400 ^@ NM_000353.2(TAT):c.*219G>A http://identifiers.org/clinvar/303383 ^@ NM_016952.4(CDON):c.*3610C>T http://identifiers.org/clinvar/303387 ^@ NM_016952.4(CDON):c.*3424T>C http://identifiers.org/clinvar/310126 ^@ NM_001038.5(SCNN1A):c.*296C>T http://identifiers.org/clinvar/320403 ^@ NM_000353.2(TAT):c.*30C>A http://identifiers.org/clinvar/303388 ^@ NM_016952.4(CDON):c.*3409T>G http://identifiers.org/clinvar/320407 ^@ NM_000353.2(TAT):c.1042-12C>T http://identifiers.org/clinvar/320417 ^@ NM_000353.2(TAT):c.-83C>T http://identifiers.org/clinvar/310128 ^@ NM_001038.5(SCNN1A):c.*113C>T http://identifiers.org/clinvar/320419 ^@ NM_001361.4(DHODH):c.72C>T (p.Phe24=) http://identifiers.org/clinvar/303392 ^@ NM_016952.4(CDON):c.*3141A>G http://identifiers.org/clinvar/303396 ^@ NM_016952.4(CDON):c.*2992T>C http://identifiers.org/clinvar/310131 ^@ NM_001038.5(SCNN1A):c.1935C>T (p.Ala645=) http://identifiers.org/clinvar/320421 ^@ NM_001361.4(DHODH):c.457C>A (p.Leu153Ile) http://identifiers.org/clinvar/310145 ^@ NM_001038.5(SCNN1A):c.944A>G (p.Asn315Ser) http://identifiers.org/clinvar/304298 ^@ NM_000280.4(PAX6):c.*4128C>T http://identifiers.org/clinvar/304303 ^@ NM_000280.4(PAX6):c.*3885G>T http://identifiers.org/clinvar/304304 ^@ NM_000280.4(PAX6):c.*3746C>T http://identifiers.org/clinvar/320436 ^@ NM_001361.4(DHODH):c.890G>A (p.Arg297His) http://identifiers.org/clinvar/304311 ^@ NM_000280.4(PAX6):c.*3168C>T http://identifiers.org/clinvar/310150 ^@ NM_001038.5(SCNN1A):c.684+9C>T http://identifiers.org/clinvar/303397 ^@ NM_016952.4(CDON):c.*2830A>G http://identifiers.org/clinvar/304312 ^@ NM_000280.4(PAX6):c.*3027G>A http://identifiers.org/clinvar/304313 ^@ NM_000280.4(PAX6):c.*2985G>A http://identifiers.org/clinvar/310156 ^@ NM_001038.5(SCNN1A):c.-54-14C>T http://identifiers.org/clinvar/303398 ^@ NM_016952.4(CDON):c.*2769G>A http://identifiers.org/clinvar/304314 ^@ NM_000280.4(PAX6):c.*2977C>A http://identifiers.org/clinvar/304319 ^@ NM_000280.4(PAX6):c.*2882T>C http://identifiers.org/clinvar/304322 ^@ NM_000280.4(PAX6):c.*2697T>A http://identifiers.org/clinvar/304324 ^@ NM_000280.4(PAX6):c.*2506C>T http://identifiers.org/clinvar/310158 ^@ NM_001038.5(SCNN1A):c.-69C>T http://identifiers.org/clinvar/303401 ^@ NM_016952.4(CDON):c.*2734G>A http://identifiers.org/clinvar/303404 ^@ NM_016952.4(CDON):c.*2698T>C http://identifiers.org/clinvar/303407 ^@ NM_016952.4(CDON):c.*2573G>A http://identifiers.org/clinvar/310159 ^@ NM_001038.5(SCNN1A):c.-93A>G http://identifiers.org/clinvar/303418 ^@ NM_016952.4(CDON):c.*2378_*2379insCA http://identifiers.org/clinvar/320439 ^@ NM_001361.4(DHODH):c.959A>G (p.Tyr320Cys) http://identifiers.org/clinvar/303415 ^@ NM_016952.4(CDON):c.*2378_*2379insCACACACACACA http://identifiers.org/clinvar/310163 ^@ NM_002076.3(GNS):c.*3068_*3069dupTT http://identifiers.org/clinvar/310165 ^@ NM_002076.3(GNS):c.*2787delG http://identifiers.org/clinvar/303416 ^@ NM_016952.4(CDON):c.*2377_*2379delTATinsCACACACACAC http://identifiers.org/clinvar/304325 ^@ NM_000280.4(PAX6):c.*2490G>A http://identifiers.org/clinvar/303431 ^@ NM_016952.4(CDON):c.*2376_*2377insCATA http://identifiers.org/clinvar/304345 ^@ NM_000280.4(PAX6):c.*891G>A http://identifiers.org/clinvar/304352 ^@ NM_000280.4(PAX6):c.*226T>C http://identifiers.org/clinvar/310167 ^@ NM_002076.3(GNS):c.*2751C>T http://identifiers.org/clinvar/320443 ^@ NM_001361.4(DHODH):c.*139C>T http://identifiers.org/clinvar/304362 ^@ NM_000280.4(PAX6):c.-107C>T http://identifiers.org/clinvar/304369 ^@ NM_000280.4(PAX6):c.-507T>C http://identifiers.org/clinvar/304371 ^@ NM_024426.4(WT1):c.*1225T>C http://identifiers.org/clinvar/304379 ^@ NM_024426.4(WT1):c.*1051_*1054delGTGT http://identifiers.org/clinvar/304377 ^@ NM_024426.4(WT1):c.*1051_*1054dupGTGT http://identifiers.org/clinvar/320445 ^@ NM_001361.4(DHODH):c.*252C>T http://identifiers.org/clinvar/304384 ^@ NM_024426.4(WT1):c.*903G>A http://identifiers.org/clinvar/304393 ^@ NM_024426.4(WT1):c.*741G>T http://identifiers.org/clinvar/304402 ^@ NM_024426.4(WT1):c.*534C>T http://identifiers.org/clinvar/304406 ^@ NM_024426.4(WT1):c.*366C>A http://identifiers.org/clinvar/320453 ^@ NM_001361.4(DHODH):c.*783A>G http://identifiers.org/clinvar/320458 ^@ NM_001361.4(DHODH):c.*1035_*1038delTTCT http://identifiers.org/clinvar/304407 ^@ NM_024426.4(WT1):c.*354G>T http://identifiers.org/clinvar/304408 ^@ NM_024426.4(WT1):c.*345G>A http://identifiers.org/clinvar/304409 ^@ NM_024426.4(WT1):c.*269G>T http://identifiers.org/clinvar/304412 ^@ NM_024426.4(WT1):c.*224A>G http://identifiers.org/clinvar/304416 ^@ NM_024426.4(WT1):c.*88A>G http://identifiers.org/clinvar/320462 ^@ NM_001361.4(DHODH):c.*1174T>G http://identifiers.org/clinvar/304419 ^@ NM_024426.4(WT1):c.1183T>C (p.Tyr395His) http://identifiers.org/clinvar/320464 ^@ NM_024306.4(FA2H):c.*1131A>C http://identifiers.org/clinvar/304435 ^@ NM_024426.4(WT1):c.-105T>C http://identifiers.org/clinvar/304438 ^@ NM_024426.4(WT1):c.-121C>T http://identifiers.org/clinvar/304442 ^@ NM_024426.4(WT1):c.-155C>T http://identifiers.org/clinvar/304447 ^@ NM_003477.2(PDHX):c.-358G>A http://identifiers.org/clinvar/303433 ^@ NM_016952.4(CDON):c.*2376_*2377insCACACACATA http://identifiers.org/clinvar/320465 ^@ NM_024306.4(FA2H):c.*1129G>A http://identifiers.org/clinvar/320466 ^@ NM_024306.4(FA2H):c.*1064C>G http://identifiers.org/clinvar/303424 ^@ NM_016952.4(CDON):c.*2377delTinsCACACACACACACACAC http://identifiers.org/clinvar/304448 ^@ NM_003477.2(PDHX):c.-354C>T http://identifiers.org/clinvar/310179 ^@ NM_002076.3(GNS):c.*1759A>G http://identifiers.org/clinvar/303438 ^@ NM_016952.4(CDON):c.*2375_*2376delCA http://identifiers.org/clinvar/310181 ^@ NM_002076.3(GNS):c.*1648C>T http://identifiers.org/clinvar/310188 ^@ NM_002076.3(GNS):c.*846C>T http://identifiers.org/clinvar/304449 ^@ NM_003477.2(PDHX):c.-319G>A http://identifiers.org/clinvar/320473 ^@ NM_024306.4(FA2H):c.*772C>A http://identifiers.org/clinvar/320474 ^@ NM_024306.4(FA2H):c.*653G>A http://identifiers.org/clinvar/320480 ^@ NM_024306.4(FA2H):c.*447C>T http://identifiers.org/clinvar/304450 ^@ NM_003477.2(PDHX):c.-302A>G http://identifiers.org/clinvar/304451 ^@ NM_003477.2(PDHX):c.-272G>A http://identifiers.org/clinvar/310190 ^@ NM_002076.3(GNS):c.*764G>A http://identifiers.org/clinvar/320482 ^@ NM_024306.4(FA2H):c.*391C>T http://identifiers.org/clinvar/320483 ^@ NM_024306.4(FA2H):c.*302G>A http://identifiers.org/clinvar/310192 ^@ NM_002076.3(GNS):c.*676A>G http://identifiers.org/clinvar/310196 ^@ NM_002076.3(GNS):c.*425G>A http://identifiers.org/clinvar/310202 ^@ NM_002076.3(GNS):c.*269C>T http://identifiers.org/clinvar/303441 ^@ NM_016952.4(CDON):c.*2345_*2349delTATAAinsAACACACACACAC http://identifiers.org/clinvar/320485 ^@ NM_024306.4(FA2H):c.*281C>A http://identifiers.org/clinvar/320489 ^@ NM_024306.4(FA2H):c.*62G>A http://identifiers.org/clinvar/320491 ^@ NM_024306.4(FA2H):c.1113G>C (p.Thr371=) http://identifiers.org/clinvar/320499 ^@ NM_024306.4(FA2H):c.429G>A (p.Glu143=) http://identifiers.org/clinvar/304454 ^@ NM_003477.2(PDHX):c.-202A>G http://identifiers.org/clinvar/304455 ^@ NM_003477.2(PDHX):c.-155G>A http://identifiers.org/clinvar/310214 ^@ NM_002076.3(GNS):c.-120A>G http://identifiers.org/clinvar/320500 ^@ NM_024306.4(FA2H):c.385C>T (p.Pro129Ser) http://identifiers.org/clinvar/303443 ^@ NM_016952.4(CDON):c.*2291T>C http://identifiers.org/clinvar/320502 ^@ NM_024306.4(FA2H):c.-74C>T http://identifiers.org/clinvar/303445 ^@ NM_016952.4(CDON):c.*2264C>T http://identifiers.org/clinvar/304458 ^@ NM_003477.2(PDHX):c.-124G>C http://identifiers.org/clinvar/304470 ^@ NM_003477.2(PDHX):c.641+4T>C http://identifiers.org/clinvar/320503 ^@ NM_021615.4(CHST6):c.*5465C>T http://identifiers.org/clinvar/303456 ^@ NM_016952.4(CDON):c.*1661C>T http://identifiers.org/clinvar/303459 ^@ NM_016952.4(CDON):c.*1517G>T http://identifiers.org/clinvar/303461 ^@ NM_016952.4(CDON):c.*1506dupA http://identifiers.org/clinvar/320511 ^@ NM_021615.4(CHST6):c.*4970T>C http://identifiers.org/clinvar/320514 ^@ NM_021615.4(CHST6):c.*4586T>C http://identifiers.org/clinvar/320521 ^@ NM_021615.4(CHST6):c.*4290A>C http://identifiers.org/clinvar/303464 ^@ NM_016952.4(CDON):c.*1327T>G http://identifiers.org/clinvar/303474 ^@ NM_016952.4(CDON):c.*916G>A http://identifiers.org/clinvar/304477 ^@ NM_003477.2(PDHX):c.*173G>A http://identifiers.org/clinvar/320527 ^@ NM_021615.4(CHST6):c.*3819G>C http://identifiers.org/clinvar/304484 ^@ NM_003477.2(PDHX):c.*743G>A http://identifiers.org/clinvar/310215 ^@ NM_002076.3(GNS):c.-161T>C http://identifiers.org/clinvar/320530 ^@ NM_021615.4(CHST6):c.*3750C>A http://identifiers.org/clinvar/320534 ^@ NM_021615.4(CHST6):c.*3621A>G http://identifiers.org/clinvar/304487 ^@ NM_000448.2(RAG1):c.-114G>A http://identifiers.org/clinvar/320537 ^@ NM_021615.4(CHST6):c.*3441A>T http://identifiers.org/clinvar/320541 ^@ NM_021615.4(CHST6):c.*3078G>A http://identifiers.org/clinvar/303475 ^@ NM_016952.4(CDON):c.*911T>C http://identifiers.org/clinvar/320542 ^@ NM_021615.4(CHST6):c.*2956G>A http://identifiers.org/clinvar/320546 ^@ NM_021615.4(CHST6):c.*2836T>C http://identifiers.org/clinvar/310219 ^@ NM_014319.4(LEMD3):c.336C>T (p.Ala112=) http://identifiers.org/clinvar/320548 ^@ NM_021615.4(CHST6):c.*2503G>A http://identifiers.org/clinvar/310221 ^@ NM_014319.4(LEMD3):c.349A>G (p.Ser117Gly) http://identifiers.org/clinvar/310223 ^@ NM_014319.4(LEMD3):c.380C>T (p.Ala127Val) http://identifiers.org/clinvar/304488 ^@ NM_000448.2(RAG1):c.-65A>G http://identifiers.org/clinvar/320550 ^@ NM_021615.4(CHST6):c.*2433A>C http://identifiers.org/clinvar/310227 ^@ NM_014319.4(LEMD3):c.750C>T (p.Val250=) http://identifiers.org/clinvar/320551 ^@ NM_021615.4(CHST6):c.*2417C>T http://identifiers.org/clinvar/310230 ^@ NM_014319.4(LEMD3):c.1027G>A (p.Gly343Arg) http://identifiers.org/clinvar/310237 ^@ NM_014319.4(LEMD3):c.1695+8A>G http://identifiers.org/clinvar/320558 ^@ NM_021615.4(CHST6):c.*1967C>T http://identifiers.org/clinvar/303476 ^@ NM_016952.4(CDON):c.*897T>C http://identifiers.org/clinvar/320560 ^@ NM_021615.4(CHST6):c.*1914A>G http://identifiers.org/clinvar/304489 ^@ NM_000448.2(RAG1):c.-15+12A>G http://identifiers.org/clinvar/320561 ^@ NM_021615.4(CHST6):c.*1892delA http://identifiers.org/clinvar/303477 ^@ NM_016952.4(CDON):c.*871C>T http://identifiers.org/clinvar/310241 ^@ NM_014319.4(LEMD3):c.2573-13T>G http://identifiers.org/clinvar/310244 ^@ NM_014319.4(LEMD3):c.*225A>G http://identifiers.org/clinvar/304494 ^@ NM_000448.2(RAG1):c.382C>T (p.Pro128Ser) http://identifiers.org/clinvar/320562 ^@ NM_021615.4(CHST6):c.*1811G>A http://identifiers.org/clinvar/320567 ^@ NM_021615.4(CHST6):c.*1566T>G http://identifiers.org/clinvar/304496 ^@ NM_000448.2(RAG1):c.592A>C (p.Arg198=) http://identifiers.org/clinvar/304497 ^@ NM_000448.2(RAG1):c.653G>A (p.Arg218His) http://identifiers.org/clinvar/320569 ^@ NM_021615.4(CHST6):c.*1474C>G http://identifiers.org/clinvar/304501 ^@ NM_000448.2(RAG1):c.1367C>A (p.Ala456Asp) http://identifiers.org/clinvar/320574 ^@ NM_021615.4(CHST6):c.*1374C>T http://identifiers.org/clinvar/304503 ^@ NM_000448.2(RAG1):c.2426A>G (p.Lys809Arg) http://identifiers.org/clinvar/320587 ^@ NM_021615.4(CHST6):c.*751C>T http://identifiers.org/clinvar/304506 ^@ NM_000448.2(RAG1):c.2751G>A (p.Gln917=) http://identifiers.org/clinvar/303480 ^@ NM_016952.4(CDON):c.*696T>C http://identifiers.org/clinvar/303481 ^@ NM_016952.4(CDON):c.*609dupA http://identifiers.org/clinvar/310245 ^@ NM_014319.4(LEMD3):c.*476C>T http://identifiers.org/clinvar/310251 ^@ NM_014319.4(LEMD3):c.*895T>C http://identifiers.org/clinvar/310252 ^@ NM_014319.4(LEMD3):c.*902G>A http://identifiers.org/clinvar/310260 ^@ NM_014319.4(LEMD3):c.*1635G>A http://identifiers.org/clinvar/310261 ^@ NM_014319.4(LEMD3):c.*1759G>T http://identifiers.org/clinvar/320596 ^@ NM_021615.4(CHST6):c.*242_*243insG http://identifiers.org/clinvar/303484 ^@ NM_016952.4(CDON):c.*369G>A http://identifiers.org/clinvar/320610 ^@ NM_021615.4(CHST6):c.666C>T (p.Asn222=) http://identifiers.org/clinvar/320613 ^@ NM_021615.4(CHST6):c.258A>C (p.Ala86=) http://identifiers.org/clinvar/320614 ^@ NM_021615.4(CHST6):c.129G>A (p.Val43=) http://identifiers.org/clinvar/303487 ^@ NM_016952.4(CDON):c.*215C>T http://identifiers.org/clinvar/303489 ^@ NM_016952.4(CDON):c.*12C>T http://identifiers.org/clinvar/304526 ^@ NM_000448.2(RAG1):c.*1701T>C http://identifiers.org/clinvar/303496 ^@ NM_016952.4(CDON):c.3040G>A (p.Gly1014Arg) http://identifiers.org/clinvar/304530 ^@ NM_000448.2(RAG1):c.*2289T>G http://identifiers.org/clinvar/303502 ^@ NM_016952.4(CDON):c.2159-8G>A http://identifiers.org/clinvar/303504 ^@ NM_016952.4(CDON):c.2051C>G (p.Thr684Ser) http://identifiers.org/clinvar/303509 ^@ NM_016952.4(CDON):c.1851+14G>A http://identifiers.org/clinvar/310265 ^@ NM_021150.3(GRIP1):c.*1559dupT http://identifiers.org/clinvar/310267 ^@ NM_021150.3(GRIP1):c.*1524_*1527delTAAA http://identifiers.org/clinvar/310272 ^@ NM_021150.3(GRIP1):c.*1314G>A http://identifiers.org/clinvar/310273 ^@ NM_021150.3(GRIP1):c.*1299_*1301dupTCA http://identifiers.org/clinvar/303510 ^@ NM_016952.4(CDON):c.1847G>A (p.Arg616Gln) http://identifiers.org/clinvar/320617 ^@ NM_021615.4(CHST6):c.-66C>G http://identifiers.org/clinvar/303513 ^@ NM_016952.4(CDON):c.1741A>G (p.Ile581Val) http://identifiers.org/clinvar/310274 ^@ NM_021150.3(GRIP1):c.*1287A>T http://identifiers.org/clinvar/303531 ^@ NM_017547.3(FOXRED1):c.-163G>C http://identifiers.org/clinvar/310276 ^@ NM_021150.3(GRIP1):c.*1262T>A http://identifiers.org/clinvar/304541 ^@ NM_000536.3(RAG2):c.*522C>G http://identifiers.org/clinvar/303533 ^@ NM_017547.3(FOXRED1):c.35G>C (p.Arg12Pro) http://identifiers.org/clinvar/320618 ^@ NM_021615.4(CHST6):c.-78T>C http://identifiers.org/clinvar/320620 ^@ NM_021615.4(CHST6):c.-154T>A http://identifiers.org/clinvar/310277 ^@ NM_021150.3(GRIP1):c.*1261delA http://identifiers.org/clinvar/310275 ^@ NM_021150.3(GRIP1):c.*1261dupA http://identifiers.org/clinvar/304544 ^@ NM_000536.3(RAG2):c.*183C>A http://identifiers.org/clinvar/303539 ^@ NM_017547.3(FOXRED1):c.833A>G (p.Glu278Gly) http://identifiers.org/clinvar/320621 ^@ NM_001130089.1(KARS):c.*59G>A http://identifiers.org/clinvar/303542 ^@ NM_017547.3(FOXRED1):c.921G>A (p.Gly307=) http://identifiers.org/clinvar/303548 ^@ NM_017547.3(FOXRED1):c.*129C>G http://identifiers.org/clinvar/320633 ^@ NM_001130089.1(KARS):c.1343G>A (p.Arg448His) http://identifiers.org/clinvar/320643 ^@ NM_022041.3(GAN):c.-127C>T http://identifiers.org/clinvar/320645 ^@ NM_022041.3(GAN):c.-111G>A http://identifiers.org/clinvar/304550 ^@ NM_000536.3(RAG2):c.*33G>T http://identifiers.org/clinvar/304551 ^@ NM_000536.3(RAG2):c.1517G>A (p.Arg506His) http://identifiers.org/clinvar/310279 ^@ NM_021150.3(GRIP1):c.*915T>C http://identifiers.org/clinvar/320646 ^@ NM_022041.3(GAN):c.-75G>C http://identifiers.org/clinvar/310280 ^@ NM_021150.3(GRIP1):c.*821T>G http://identifiers.org/clinvar/304552 ^@ NM_000536.3(RAG2):c.1095T>C (p.Ser365=) http://identifiers.org/clinvar/304556 ^@ NM_000536.3(RAG2):c.368G>A (p.Arg123His) http://identifiers.org/clinvar/310282 ^@ NM_021150.3(GRIP1):c.*753_*757delATTAT http://identifiers.org/clinvar/310285 ^@ NM_021150.3(GRIP1):c.*716T>C http://identifiers.org/clinvar/310289 ^@ NM_021150.3(GRIP1):c.*647_*650dupAACA http://identifiers.org/clinvar/320651 ^@ NM_022041.3(GAN):c.75G>A (p.Glu25=) http://identifiers.org/clinvar/320654 ^@ NM_022041.3(GAN):c.801A>G (p.Lys267=) http://identifiers.org/clinvar/310294 ^@ NM_021150.3(GRIP1):c.*235G>T http://identifiers.org/clinvar/310296 ^@ NM_021150.3(GRIP1):c.*138C>T http://identifiers.org/clinvar/304557 ^@ NM_000536.3(RAG2):c.141T>G (p.His47Gln) http://identifiers.org/clinvar/320655 ^@ NM_022041.3(GAN):c.974-11G>C http://identifiers.org/clinvar/310298 ^@ NM_021150.3(GRIP1):c.2892T>C (p.Phe964=) http://identifiers.org/clinvar/303558 ^@ NM_000220.4(KCNJ1):c.*597C>T http://identifiers.org/clinvar/320660 ^@ NM_022041.3(GAN):c.1699C>A (p.Arg567Ser) http://identifiers.org/clinvar/320671 ^@ NM_022041.3(GAN):c.*360G>T http://identifiers.org/clinvar/303559 ^@ NM_000220.4(KCNJ1):c.*553C>T http://identifiers.org/clinvar/320688 ^@ NM_022041.3(GAN):c.*1268C>T http://identifiers.org/clinvar/320697 ^@ NM_022041.3(GAN):c.*1659delT http://identifiers.org/clinvar/304561 ^@ NM_000536.3(RAG2):c.-137T>C http://identifiers.org/clinvar/320699 ^@ NM_022041.3(GAN):c.*1747A>G http://identifiers.org/clinvar/320700 ^@ NM_022041.3(GAN):c.*1817G>C http://identifiers.org/clinvar/303565 ^@ NM_000220.4(KCNJ1):c.*141G>A http://identifiers.org/clinvar/320704 ^@ NM_022041.3(GAN):c.*1943T>C http://identifiers.org/clinvar/310302 ^@ NM_021150.3(GRIP1):c.2402G>A (p.Arg801Gln) http://identifiers.org/clinvar/320706 ^@ NM_022041.3(GAN):c.*2027T>A http://identifiers.org/clinvar/304563 ^@ NM_207122.1(EXT2):c.-331T>C http://identifiers.org/clinvar/320712 ^@ NM_022041.3(GAN):c.*2322T>G http://identifiers.org/clinvar/303567 ^@ NM_000220.4(KCNJ1):c.*73A>T http://identifiers.org/clinvar/303569 ^@ NM_000220.4(KCNJ1):c.980C>T (p.Pro327Leu) http://identifiers.org/clinvar/310305 ^@ NM_021150.3(GRIP1):c.1645G>A (p.Val549Ile) http://identifiers.org/clinvar/320720 ^@ NM_012213.2(MLYCD):c.13G>A (p.Gly5Arg) http://identifiers.org/clinvar/310307 ^@ NM_021150.3(GRIP1):c.1427A>G (p.Asn476Ser) http://identifiers.org/clinvar/304572 ^@ NM_207122.1(EXT2):c.11C>T (p.Ser4Leu) http://identifiers.org/clinvar/320721 ^@ NM_012213.2(MLYCD):c.135C>T (p.Arg45=) http://identifiers.org/clinvar/310311 ^@ NM_021150.3(GRIP1):c.872+7A>G http://identifiers.org/clinvar/303572 ^@ NM_000220.4(KCNJ1):c.789C>T (p.Ile263=) http://identifiers.org/clinvar/303573 ^@ NM_000220.4(KCNJ1):c.634C>T (p.Arg212Ter) http://identifiers.org/clinvar/303576 ^@ NM_000220.4(KCNJ1):c.92G>A (p.Arg31His) http://identifiers.org/clinvar/310313 ^@ NM_021150.3(GRIP1):c.345C>T (p.Asp115=) http://identifiers.org/clinvar/304573 ^@ NM_207122.1(EXT2):c.31G>A (p.Gly11Ser) http://identifiers.org/clinvar/303584 ^@ NM_000890.3(KCNJ5):c.-303_-291delCACACACACACACinsGAGAGAG http://identifiers.org/clinvar/303587 ^@ NM_000890.3(KCNJ5):c.-301_-291delCACACACACACinsGAG http://identifiers.org/clinvar/320740 ^@ NM_012213.2(MLYCD):c.1464A>G (p.Gln488=) http://identifiers.org/clinvar/320745 ^@ NM_012213.2(MLYCD):c.*135A>G http://identifiers.org/clinvar/303588 ^@ NM_000890.3(KCNJ5):c.-301_-291delCACACACACACinsGAGAG http://identifiers.org/clinvar/303589 ^@ NM_000890.3(KCNJ5):c.-301_-291delCACACACACACinsGAGAGAG http://identifiers.org/clinvar/310320 ^@ NM_000619.2(IFNG):c.*500C>T http://identifiers.org/clinvar/320750 ^@ NM_012213.2(MLYCD):c.*286G>T http://identifiers.org/clinvar/310324 ^@ NM_000619.2(IFNG):c.114+11C>T http://identifiers.org/clinvar/304576 ^@ NM_207122.1(EXT2):c.264C>T (p.His88=) http://identifiers.org/clinvar/320753 ^@ NM_012213.2(MLYCD):c.*412T>C http://identifiers.org/clinvar/320761 ^@ NM_178452.5(DNAAF1):c.-141G>A http://identifiers.org/clinvar/320763 ^@ NM_178452.5(DNAAF1):c.-100G>A http://identifiers.org/clinvar/304577 ^@ NM_207122.1(EXT2):c.519G>C (p.Ala173=) http://identifiers.org/clinvar/320765 ^@ NM_178452.5(DNAAF1):c.181C>G (p.Gln61Glu) http://identifiers.org/clinvar/303599 ^@ NM_000890.3(KCNJ5):c.-294_-293insGAGAGA http://identifiers.org/clinvar/320770 ^@ NM_178452.5(DNAAF1):c.995A>C (p.Glu332Ala) http://identifiers.org/clinvar/304578 ^@ NM_207122.1(EXT2):c.744-10T>G http://identifiers.org/clinvar/304582 ^@ NM_207122.1(EXT2):c.918C>T (p.Phe306=) http://identifiers.org/clinvar/304584 ^@ NM_207122.1(EXT2):c.999T>C (p.Asp333=) http://identifiers.org/clinvar/320776 ^@ NM_178452.5(DNAAF1):c.1573G>A (p.Glu525Lys) http://identifiers.org/clinvar/304586 ^@ NM_207122.1(EXT2):c.1087G>A (p.Val363Met) http://identifiers.org/clinvar/304599 ^@ NM_207122.1(EXT2):c.*139C>G http://identifiers.org/clinvar/310362 ^@ NM_000365.5(TPI1):c.543+6C>T http://identifiers.org/clinvar/320777 ^@ NM_178452.5(DNAAF1):c.1664A>T (p.Asp555Val) http://identifiers.org/clinvar/310364 ^@ NM_000365.5(TPI1):c.544-10C>G http://identifiers.org/clinvar/304601 ^@ NM_207122.1(EXT2):c.*381T>C http://identifiers.org/clinvar/304602 ^@ NM_207122.1(EXT2):c.*472C>T http://identifiers.org/clinvar/304603 ^@ NM_207122.1(EXT2):c.*646C>T http://identifiers.org/clinvar/320792 ^@ NM_001451.2(FOXF1):c.908G>A (p.Ser303Asn) http://identifiers.org/clinvar/304607 ^@ NM_207122.1(EXT2):c.*945G>A http://identifiers.org/clinvar/304608 ^@ NM_021926.3(ALX4):c.*4105C>T http://identifiers.org/clinvar/320793 ^@ NM_001451.2(FOXF1):c.980-10C>T http://identifiers.org/clinvar/320795 ^@ NM_001451.2(FOXF1):c.*16C>T http://identifiers.org/clinvar/310366 ^@ NM_000365.5(TPI1):c.*69C>T http://identifiers.org/clinvar/320798 ^@ NM_001451.2(FOXF1):c.*71C>A http://identifiers.org/clinvar/320802 ^@ NM_001451.2(FOXF1):c.*260T>C http://identifiers.org/clinvar/303600 ^@ NM_000890.3(KCNJ5):c.-294_-293insGAGAGAGA http://identifiers.org/clinvar/320807 ^@ NM_001451.2(FOXF1):c.*370G>A http://identifiers.org/clinvar/320808 ^@ NM_001451.2(FOXF1):c.*372G>A http://identifiers.org/clinvar/304615 ^@ NM_021926.3(ALX4):c.*3577C>T http://identifiers.org/clinvar/320815 ^@ NM_001451.2(FOXF1):c.*631C>T http://identifiers.org/clinvar/320817 ^@ NM_001451.2(FOXF1):c.*646G>T http://identifiers.org/clinvar/303603 ^@ NM_000890.3(KCNJ5):c.-293_-291delCACinsGAGAGAGAG http://identifiers.org/clinvar/320819 ^@ NM_001451.2(FOXF1):c.*682G>A http://identifiers.org/clinvar/303607 ^@ NM_000890.3(KCNJ5):c.-293_-291delCACinsGAGAGAGAGAGAGAGAGAGAGAGAG http://identifiers.org/clinvar/303608 ^@ NM_000890.3(KCNJ5):c.-293_-289delCACAGinsGAGAGAGAGAGAA http://identifiers.org/clinvar/303614 ^@ NM_000890.3(KCNJ5):c.-291delCinsGAGAGAGAGAG http://identifiers.org/clinvar/320820 ^@ NM_001451.2(FOXF1):c.*724C>T http://identifiers.org/clinvar/303618 ^@ NM_000890.3(KCNJ5):c.-289G>C http://identifiers.org/clinvar/320821 ^@ NM_001451.2(FOXF1):c.*754T>C http://identifiers.org/clinvar/310368 ^@ NM_000365.5(TPI1):c.*239C>T http://identifiers.org/clinvar/310371 ^@ NM_000365.5(TPI1):c.*420T>C http://identifiers.org/clinvar/320825 ^@ NM_001451.2(FOXF1):c.*909G>A http://identifiers.org/clinvar/320826 ^@ NM_001451.2(FOXF1):c.*1095C>A http://identifiers.org/clinvar/303623 ^@ NM_000890.3(KCNJ5):c.-272A>G http://identifiers.org/clinvar/320832 ^@ NM_001451.2(FOXF1):c.*1182T>G http://identifiers.org/clinvar/320834 ^@ NM_001451.2(FOXF1):c.*1216T>G http://identifiers.org/clinvar/320835 ^@ NM_001451.2(FOXF1):c.*1298dupA http://identifiers.org/clinvar/303617 ^@ NM_000890.3(KCNJ5):c.-259_-256dupGAGA http://identifiers.org/clinvar/303624 ^@ NM_000890.3(KCNJ5):c.-258_-255delAGAT http://identifiers.org/clinvar/303626 ^@ NM_000890.3(KCNJ5):c.-63G>C http://identifiers.org/clinvar/303627 ^@ NM_000890.3(KCNJ5):c.273C>T (p.Leu91=) http://identifiers.org/clinvar/320838 ^@ NM_020686.5(ABAT):c.-52G>T http://identifiers.org/clinvar/320840 ^@ NM_020686.5(ABAT):c.129G>A (p.Gly43=) http://identifiers.org/clinvar/303633 ^@ NM_000890.3(KCNJ5):c.1254G>A (p.Ser418=) http://identifiers.org/clinvar/303637 ^@ NM_000890.3(KCNJ5):c.*121G>T http://identifiers.org/clinvar/303642 ^@ NM_000890.3(KCNJ5):c.*449A>T http://identifiers.org/clinvar/310372 ^@ NM_000365.5(TPI1):c.*541dupA http://identifiers.org/clinvar/304618 ^@ NM_021926.3(ALX4):c.*3382G>A http://identifiers.org/clinvar/320842 ^@ NM_020686.5(ABAT):c.168+12A>G http://identifiers.org/clinvar/303647 ^@ NM_000890.3(KCNJ5):c.*759C>T http://identifiers.org/clinvar/321072 ^@ NM_020686.5(ABAT):c.540+34_540+35dupCA http://identifiers.org/clinvar/304619 ^@ NM_021926.3(ALX4):c.*3381C>T http://identifiers.org/clinvar/321078 ^@ NM_020686.5(ABAT):c.667+7_667+8dupAG http://identifiers.org/clinvar/310330 ^@ NM_000239.2(LYZ):c.156G>A (p.Trp52Ter) http://identifiers.org/clinvar/304621 ^@ NM_021926.3(ALX4):c.*3166C>T http://identifiers.org/clinvar/304622 ^@ NM_021926.3(ALX4):c.*3112C>T http://identifiers.org/clinvar/310331 ^@ NM_000239.2(LYZ):c.263C>A (p.Thr88Asn) http://identifiers.org/clinvar/304623 ^@ NM_021926.3(ALX4):c.*3107A>G http://identifiers.org/clinvar/304631 ^@ NM_021926.3(ALX4):c.*2832A>C http://identifiers.org/clinvar/321082 ^@ NM_020686.5(ABAT):c.984C>A (p.Val328=) http://identifiers.org/clinvar/304633 ^@ NM_021926.3(ALX4):c.*2682C>T http://identifiers.org/clinvar/310332 ^@ NM_000239.2(LYZ):c.269G>A (p.Gly90Glu) http://identifiers.org/clinvar/321089 ^@ NM_020686.5(ABAT):c.1270G>A (p.Ala424Thr) http://identifiers.org/clinvar/321095 ^@ NM_020686.5(ABAT):c.*244C>A http://identifiers.org/clinvar/321099 ^@ NM_020686.5(ABAT):c.*318T>C http://identifiers.org/clinvar/310333 ^@ NM_000239.2(LYZ):c.415G>C (p.Val139Leu) http://identifiers.org/clinvar/310337 ^@ NM_000239.2(LYZ):c.*221C>T http://identifiers.org/clinvar/310345 ^@ NM_000239.2(LYZ):c.*440T>A http://identifiers.org/clinvar/304636 ^@ NM_021926.3(ALX4):c.*2507G>A http://identifiers.org/clinvar/303652 ^@ NM_000890.3(KCNJ5):c.*928C>T http://identifiers.org/clinvar/303654 ^@ NM_000890.3(KCNJ5):c.*936C>T http://identifiers.org/clinvar/304637 ^@ NM_021926.3(ALX4):c.*2489C>T http://identifiers.org/clinvar/321101 ^@ NM_020686.5(ABAT):c.*476T>C http://identifiers.org/clinvar/321107 ^@ NM_020686.5(ABAT):c.*915C>G http://identifiers.org/clinvar/304641 ^@ NM_021926.3(ALX4):c.*2431C>T http://identifiers.org/clinvar/304642 ^@ NM_021926.3(ALX4):c.*2244G>A http://identifiers.org/clinvar/310403 ^@ NM_001131025.1(PEX5):c.-521C>G http://identifiers.org/clinvar/321109 ^@ NM_020686.5(ABAT):c.*990G>C http://identifiers.org/clinvar/310374 ^@ NM_173353.3(TPH2):c.-88G>T http://identifiers.org/clinvar/303660 ^@ NM_000890.3(KCNJ5):c.*1063G>A http://identifiers.org/clinvar/310375 ^@ NM_173353.3(TPH2):c.-82C>T http://identifiers.org/clinvar/321117 ^@ NM_020686.5(ABAT):c.*1333A>G http://identifiers.org/clinvar/310382 ^@ NM_173353.3(TPH2):c.439+9G>A http://identifiers.org/clinvar/304647 ^@ NM_021926.3(ALX4):c.*1913G>A http://identifiers.org/clinvar/304648 ^@ NM_021926.3(ALX4):c.*1901A>G http://identifiers.org/clinvar/321119 ^@ NM_020686.5(ABAT):c.*1416T>A http://identifiers.org/clinvar/304649 ^@ NM_021926.3(ALX4):c.*1896A>G http://identifiers.org/clinvar/303662 ^@ NM_000890.3(KCNJ5):c.*1151C>T http://identifiers.org/clinvar/303664 ^@ NM_000890.3(KCNJ5):c.*1216C>T http://identifiers.org/clinvar/321121 ^@ NM_020686.5(ABAT):c.*1501A>G http://identifiers.org/clinvar/303665 ^@ NM_000890.3(KCNJ5):c.*1302C>T http://identifiers.org/clinvar/304655 ^@ NM_021926.3(ALX4):c.*1466G>A http://identifiers.org/clinvar/310386 ^@ NM_173353.3(TPH2):c.936A>G (p.Pro312=) http://identifiers.org/clinvar/304657 ^@ NM_021926.3(ALX4):c.*1447G>A http://identifiers.org/clinvar/310418 ^@ NM_001131025.1(PEX5):c.533G>A (p.Gly178Glu) http://identifiers.org/clinvar/303672 ^@ NM_014384.2(ACAD8):c.211-4A>G http://identifiers.org/clinvar/310387 ^@ NM_173353.3(TPH2):c.1050T>C (p.Asp350=) http://identifiers.org/clinvar/321123 ^@ NM_020686.5(ABAT):c.*1516delT http://identifiers.org/clinvar/304659 ^@ NM_021926.3(ALX4):c.*1408G>T http://identifiers.org/clinvar/321129 ^@ NM_020686.5(ABAT):c.*1814T>C http://identifiers.org/clinvar/321132 ^@ NM_020686.5(ABAT):c.*1907A>G http://identifiers.org/clinvar/304668 ^@ NM_021926.3(ALX4):c.*1121C>T http://identifiers.org/clinvar/321133 ^@ NM_020686.5(ABAT):c.*1922G>A http://identifiers.org/clinvar/310422 ^@ NM_001131025.1(PEX5):c.754-4G>A http://identifiers.org/clinvar/310393 ^@ NM_173353.3(TPH2):c.*189_*192dupACCA http://identifiers.org/clinvar/321136 ^@ NM_020686.5(ABAT):c.*1976C>A http://identifiers.org/clinvar/321142 ^@ NM_020686.5(ABAT):c.*2304T>A http://identifiers.org/clinvar/321146 ^@ NM_020686.5(ABAT):c.*2642T>G http://identifiers.org/clinvar/310395 ^@ NM_173353.3(TPH2):c.*381dupA http://identifiers.org/clinvar/310423 ^@ NM_001131025.1(PEX5):c.909T>C (p.Ala303=) http://identifiers.org/clinvar/304670 ^@ NM_021926.3(ALX4):c.*1048C>T http://identifiers.org/clinvar/304674 ^@ NM_021926.3(ALX4):c.*972C>T http://identifiers.org/clinvar/310427 ^@ NM_001131025.1(PEX5):c.1559A>G (p.Asn520Ser) http://identifiers.org/clinvar/310431 ^@ NM_001131025.1(PEX5):c.1737T>C (p.Phe579=) http://identifiers.org/clinvar/321149 ^@ NM_020686.5(ABAT):c.*2884T>C http://identifiers.org/clinvar/304675 ^@ NM_021926.3(ALX4):c.*963G>A http://identifiers.org/clinvar/321216 ^@ NM_000303.2(PMM2):c.255+2T>C http://identifiers.org/clinvar/304676 ^@ NM_021926.3(ALX4):c.*944G>T http://identifiers.org/clinvar/304677 ^@ NM_021926.3(ALX4):c.*923C>T http://identifiers.org/clinvar/304682 ^@ NM_021926.3(ALX4):c.*855C>A http://identifiers.org/clinvar/303680 ^@ NM_014384.2(ACAD8):c.841+7T>C http://identifiers.org/clinvar/321218 ^@ NM_000303.2(PMM2):c.552T>C (p.Pro184=) http://identifiers.org/clinvar/320846 ^@ NM_001127464.2(ZNF469):c.62G>A (p.Arg21His) http://identifiers.org/clinvar/303682 ^@ NM_014384.2(ACAD8):c.841+15G>A http://identifiers.org/clinvar/303684 ^@ NM_014384.2(ACAD8):c.1092C>T (p.Ala364=) http://identifiers.org/clinvar/303690 ^@ NM_014384.2(ACAD8):c.*306C>T http://identifiers.org/clinvar/310434 ^@ NM_001131025.1(PEX5):c.1875G>A (p.Ala625=) http://identifiers.org/clinvar/310437 ^@ NM_001131025.1(PEX5):c.*75G>A http://identifiers.org/clinvar/310439 ^@ NM_001131025.1(PEX5):c.*132C>G http://identifiers.org/clinvar/303694 ^@ NM_014384.2(ACAD8):c.*494A>G http://identifiers.org/clinvar/310447 ^@ NM_001131025.1(PEX5):c.*495G>A http://identifiers.org/clinvar/303699 ^@ NM_014384.2(ACAD8):c.*874C>G http://identifiers.org/clinvar/310448 ^@ NM_001131025.1(PEX5):c.*627C>T http://identifiers.org/clinvar/310519 ^@ NM_018979.3(WNK1):c.-452G>A http://identifiers.org/clinvar/303705 ^@ NM_000315.3(PTH):c.-33C>T http://identifiers.org/clinvar/310526 ^@ NM_018979.3(WNK1):c.-260G>T http://identifiers.org/clinvar/310527 ^@ NM_018979.3(WNK1):c.-253A>G http://identifiers.org/clinvar/320852 ^@ NM_001127464.2(ZNF469):c.402C>T (p.Asp134=) http://identifiers.org/clinvar/310530 ^@ NM_018979.3(WNK1):c.-203C>G http://identifiers.org/clinvar/310531 ^@ NM_018979.3(WNK1):c.-159C>T http://identifiers.org/clinvar/310536 ^@ NM_018979.3(WNK1):c.-23C>T http://identifiers.org/clinvar/304689 ^@ NM_021926.3(ALX4):c.*424dupC http://identifiers.org/clinvar/304694 ^@ NM_021926.3(ALX4):c.*228C>T http://identifiers.org/clinvar/310537 ^@ NM_018979.3(WNK1):c.99C>T (p.Ser33=) http://identifiers.org/clinvar/320855 ^@ NM_001127464.2(ZNF469):c.627G>T (p.Gly209=) http://identifiers.org/clinvar/303706 ^@ NM_000315.3(PTH):c.-83T>C http://identifiers.org/clinvar/310543 ^@ NM_018979.3(WNK1):c.446C>T (p.Ala149Val) http://identifiers.org/clinvar/304697 ^@ NM_021926.3(ALX4):c.*25C>T http://identifiers.org/clinvar/320858 ^@ NM_001127464.2(ZNF469):c.869C>T (p.Ala290Val) http://identifiers.org/clinvar/303707 ^@ NM_000525.3(KCNJ11):c.*1562A>G http://identifiers.org/clinvar/320860 ^@ NM_001127464.2(ZNF469):c.951C>T (p.Ala317=) http://identifiers.org/clinvar/320867 ^@ NM_001127464.2(ZNF469):c.1547G>C (p.Gly516Ala) http://identifiers.org/clinvar/320868 ^@ NM_001127464.2(ZNF469):c.1584G>A (p.Pro528=) http://identifiers.org/clinvar/303708 ^@ NM_000525.3(KCNJ11):c.*1197G>A http://identifiers.org/clinvar/303717 ^@ NM_000525.3(KCNJ11):c.*686A>G http://identifiers.org/clinvar/320871 ^@ NM_001127464.2(ZNF469):c.1719C>T (p.His573=) http://identifiers.org/clinvar/320877 ^@ NM_001127464.2(ZNF469):c.1982A>G (p.Tyr661Cys) http://identifiers.org/clinvar/320878 ^@ NM_001127464.2(ZNF469):c.1994C>T (p.Pro665Leu) http://identifiers.org/clinvar/303722 ^@ NM_000525.3(KCNJ11):c.*441T>C http://identifiers.org/clinvar/303726 ^@ NM_000525.3(KCNJ11):c.*218G>T http://identifiers.org/clinvar/303732 ^@ NM_000525.3(KCNJ11):c.*50G>A http://identifiers.org/clinvar/303733 ^@ NM_000525.3(KCNJ11):c.*40C>T http://identifiers.org/clinvar/304698 ^@ NM_021926.3(ALX4):c.1206G>A (p.Glu402=) http://identifiers.org/clinvar/304702 ^@ NM_021926.3(ALX4):c.879C>T (p.Leu293=) http://identifiers.org/clinvar/320884 ^@ NM_001127464.2(ZNF469):c.2361C>G (p.His787Gln) http://identifiers.org/clinvar/304707 ^@ NM_021926.3(ALX4):c.594C>A (p.Leu198=) http://identifiers.org/clinvar/320893 ^@ NM_001127464.2(ZNF469):c.2873T>C (p.Leu958Pro) http://identifiers.org/clinvar/320899 ^@ NM_001127464.2(ZNF469):c.2952C>T (p.Asp984=) http://identifiers.org/clinvar/320902 ^@ NM_001127464.2(ZNF469):c.3125G>A (p.Arg1042Gln) http://identifiers.org/clinvar/303738 ^@ NM_000525.3(KCNJ11):c.354G>A (p.Ser118=) http://identifiers.org/clinvar/303745 ^@ NM_000525.3(KCNJ11):c.-559G>C http://identifiers.org/clinvar/304716 ^@ NM_021926.3(ALX4):c.69G>C (p.Pro23=) http://identifiers.org/clinvar/303750 ^@ NM_000352.4(ABCC8):c.4307+13A>C http://identifiers.org/clinvar/310544 ^@ NM_018979.3(WNK1):c.491G>T (p.Arg164Leu) http://identifiers.org/clinvar/310466 ^@ NM_024685.3(BBS10):c.*1275A>C http://identifiers.org/clinvar/304717 ^@ NM_021926.3(ALX4):c.63C>T (p.Tyr21=) http://identifiers.org/clinvar/320903 ^@ NM_001127464.2(ZNF469):c.3179+4C>T http://identifiers.org/clinvar/303752 ^@ NM_000352.4(ABCC8):c.4199-8C>T http://identifiers.org/clinvar/320908 ^@ NM_001127464.2(ZNF469):c.3401G>T (p.Arg1134Leu) http://identifiers.org/clinvar/320909 ^@ NM_001127464.2(ZNF469):c.3422C>T (p.Pro1141Leu) http://identifiers.org/clinvar/320911 ^@ NM_001127464.2(ZNF469):c.3692G>A (p.Ser1231Asn) http://identifiers.org/clinvar/303754 ^@ NM_000352.4(ABCC8):c.4090G>A (p.Val1364Ile) http://identifiers.org/clinvar/303757 ^@ NM_000352.4(ABCC8):c.3951C>G (p.Leu1317=) http://identifiers.org/clinvar/310468 ^@ NM_024685.3(BBS10):c.*1248A>G http://identifiers.org/clinvar/320912 ^@ NM_001127464.2(ZNF469):c.3810G>C (p.Val1270=) http://identifiers.org/clinvar/320914 ^@ NM_001127464.2(ZNF469):c.3847C>T (p.Pro1283Ser) http://identifiers.org/clinvar/310471 ^@ NM_024685.3(BBS10):c.*1189dupA http://identifiers.org/clinvar/304722 ^@ NM_018389.4(SLC35C1):c.-653C>T http://identifiers.org/clinvar/310475 ^@ NM_024685.3(BBS10):c.*955T>C http://identifiers.org/clinvar/320915 ^@ NM_001127464.2(ZNF469):c.3866A>G (p.Lys1289Arg) http://identifiers.org/clinvar/320919 ^@ NM_001127464.2(ZNF469):c.4143G>A (p.Pro1381=) http://identifiers.org/clinvar/310490 ^@ NM_024685.3(BBS10):c.1567C>A (p.Leu523Met) http://identifiers.org/clinvar/310494 ^@ NM_024685.3(BBS10):c.681C>G (p.Gly227=) http://identifiers.org/clinvar/320921 ^@ NM_001127464.2(ZNF469):c.4292T>G (p.Leu1431Arg) http://identifiers.org/clinvar/310495 ^@ NM_024685.3(BBS10):c.460T>C (p.Leu154=) http://identifiers.org/clinvar/320924 ^@ NM_001127464.2(ZNF469):c.4372G>A (p.Asp1458Asn) http://identifiers.org/clinvar/320949 ^@ NM_001127464.2(ZNF469):c.5945G>A (p.Gly1982Glu) http://identifiers.org/clinvar/310496 ^@ NM_024685.3(BBS10):c.393G>A (p.Gln131=) http://identifiers.org/clinvar/310500 ^@ NM_024685.3(BBS10):c.-4A>G http://identifiers.org/clinvar/310505 ^@ NM_002469.2(MYF6):c.50G>A (p.Gly17Glu) http://identifiers.org/clinvar/304724 ^@ NM_018389.4(SLC35C1):c.-632G>A http://identifiers.org/clinvar/310507 ^@ NM_002469.2(MYF6):c.281G>A (p.Arg94Gln) http://identifiers.org/clinvar/303769 ^@ NM_000352.4(ABCC8):c.2937C>T (p.Ser979=) http://identifiers.org/clinvar/320962 ^@ NM_001127464.2(ZNF469):c.6860C>G (p.Pro2287Arg) http://identifiers.org/clinvar/303779 ^@ NM_000352.4(ABCC8):c.1958G>A (p.Arg653Gln) http://identifiers.org/clinvar/304726 ^@ NM_018389.4(SLC35C1):c.-546_-540dupGAGCCCC http://identifiers.org/clinvar/320963 ^@ NM_001127464.2(ZNF469):c.6978G>A (p.Thr2326=) http://identifiers.org/clinvar/303788 ^@ NM_000352.4(ABCC8):c.291-3C>T http://identifiers.org/clinvar/303800 ^@ NM_005709.3(USH1C):c.*74C>T http://identifiers.org/clinvar/320966 ^@ NM_001127464.2(ZNF469):c.7032C>G (p.Thr2344=) http://identifiers.org/clinvar/320974 ^@ NM_001127464.2(ZNF469):c.7469C>A (p.Pro2490His) http://identifiers.org/clinvar/303806 ^@ NM_005709.3(USH1C):c.881G>A (p.Arg294Gln) http://identifiers.org/clinvar/304727 ^@ NM_018389.4(SLC35C1):c.-518C>A http://identifiers.org/clinvar/310513 ^@ NM_002469.2(MYF6):c.*332G>T http://identifiers.org/clinvar/320982 ^@ NM_001127464.2(ZNF469):c.8028G>C (p.Glu2676Asp) http://identifiers.org/clinvar/320985 ^@ NM_001127464.2(ZNF469):c.8246A>T (p.Asp2749Val) http://identifiers.org/clinvar/320989 ^@ NM_001127464.2(ZNF469):c.8419G>C (p.Glu2807Gln) http://identifiers.org/clinvar/320992 ^@ NM_001127464.2(ZNF469):c.8558G>T (p.Arg2853Leu) http://identifiers.org/clinvar/304728 ^@ NM_018389.4(SLC35C1):c.-481G>A http://identifiers.org/clinvar/304731 ^@ NM_018389.4(SLC35C1):c.-303G>C http://identifiers.org/clinvar/310516 ^@ NM_002469.2(MYF6):c.*405A>G http://identifiers.org/clinvar/310670 ^@ NM_018979.3(WNK1):c.915G>A (p.Thr305=) http://identifiers.org/clinvar/304732 ^@ NM_018389.4(SLC35C1):c.-234T>G http://identifiers.org/clinvar/304733 ^@ NM_018389.4(SLC35C1):c.-218G>C http://identifiers.org/clinvar/310549 ^@ NM_020661.3(AICDA):c.*1666G>T http://identifiers.org/clinvar/320995 ^@ NM_001127464.2(ZNF469):c.8717T>A (p.Leu2906Gln) http://identifiers.org/clinvar/303807 ^@ NM_005709.3(USH1C):c.851T>A (p.Leu284Gln) http://identifiers.org/clinvar/321003 ^@ NM_001127464.2(ZNF469):c.9195G>T (p.Glu3065Asp) http://identifiers.org/clinvar/321006 ^@ NM_001127464.2(ZNF469):c.9592C>A (p.His3198Asn) http://identifiers.org/clinvar/304736 ^@ NM_018389.4(SLC35C1):c.29G>A (p.Arg10Lys) http://identifiers.org/clinvar/321007 ^@ NM_001127464.2(ZNF469):c.9612G>A (p.Thr3204=) http://identifiers.org/clinvar/321009 ^@ NM_001127464.2(ZNF469):c.9700G>T (p.Ala3234Ser) http://identifiers.org/clinvar/321012 ^@ NM_001127464.2(ZNF469):c.10241G>T (p.Arg3414Met) http://identifiers.org/clinvar/304737 ^@ NM_018389.4(SLC35C1):c.151A>G (p.Thr51Ala) http://identifiers.org/clinvar/303809 ^@ NM_005709.3(USH1C):c.790G>A (p.Val264Ile) http://identifiers.org/clinvar/321013 ^@ NM_001127464.2(ZNF469):c.10244G>T (p.Gly3415Val) http://identifiers.org/clinvar/303815 ^@ NM_005709.3(USH1C):c.406C>T (p.Arg136Trp) http://identifiers.org/clinvar/321020 ^@ NM_001127464.2(ZNF469):c.10888G>C (p.Glu3630Gln) http://identifiers.org/clinvar/321021 ^@ NM_001127464.2(ZNF469):c.10968G>A (p.Ser3656=) http://identifiers.org/clinvar/321023 ^@ NM_001127464.2(ZNF469):c.11025G>T (p.Val3675=) http://identifiers.org/clinvar/310550 ^@ NM_020661.3(AICDA):c.*1662C>A http://identifiers.org/clinvar/310559 ^@ NM_020661.3(AICDA):c.*1136A>G http://identifiers.org/clinvar/310561 ^@ NM_020661.3(AICDA):c.*1089C>T http://identifiers.org/clinvar/321024 ^@ NM_001127464.2(ZNF469):c.11119A>G (p.Ser3707Gly) http://identifiers.org/clinvar/310566 ^@ NM_020661.3(AICDA):c.*804A>T http://identifiers.org/clinvar/321030 ^@ NM_001127464.2(ZNF469):c.11574G>C (p.Gln3858His) http://identifiers.org/clinvar/321031 ^@ NM_001127464.2(ZNF469):c.11673A>G (p.Pro3891=) http://identifiers.org/clinvar/304742 ^@ NM_018389.4(SLC35C1):c.748G>A (p.Gly250Arg) http://identifiers.org/clinvar/321032 ^@ NM_001127464.2(ZNF469):c.11725G>A (p.Gly3909Arg) http://identifiers.org/clinvar/321036 ^@ NM_001127464.2(ZNF469):c.*46C>A http://identifiers.org/clinvar/321039 ^@ NM_001127464.2(ZNF469):c.*264A>G http://identifiers.org/clinvar/304743 ^@ NM_018389.4(SLC35C1):c.837C>T (p.Ala279=) http://identifiers.org/clinvar/304759 ^@ NM_018389.4(SLC35C1):c.*1312T>C http://identifiers.org/clinvar/303833 ^@ NM_001909.4(CTSD):c.1116C>T (p.Gly372=) http://identifiers.org/clinvar/321040 ^@ NM_001127464.2(ZNF469):c.*285C>T http://identifiers.org/clinvar/310572 ^@ NM_020661.3(AICDA):c.*309T>C http://identifiers.org/clinvar/321044 ^@ NM_001127464.2(ZNF469):c.*492G>A http://identifiers.org/clinvar/321046 ^@ NM_001127464.2(ZNF469):c.*518G>A http://identifiers.org/clinvar/321048 ^@ NM_001127464.2(ZNF469):c.*547G>T http://identifiers.org/clinvar/310576 ^@ NM_020661.3(AICDA):c.*67C>T http://identifiers.org/clinvar/310578 ^@ NM_020661.3(AICDA):c.428-5dupT http://identifiers.org/clinvar/304769 ^@ NM_018389.4(SLC35C1):c.*1619C>A http://identifiers.org/clinvar/321063 ^@ NM_001127464.2(ZNF469):c.*932A>G http://identifiers.org/clinvar/321230 ^@ NM_000303.2(PMM2):c.*137G>A http://identifiers.org/clinvar/304770 ^@ NM_018389.4(SLC35C1):c.*1636G>A http://identifiers.org/clinvar/321232 ^@ NM_000303.2(PMM2):c.*252C>A http://identifiers.org/clinvar/321237 ^@ NM_000303.2(PMM2):c.*383C>T http://identifiers.org/clinvar/321239 ^@ NM_000303.2(PMM2):c.*423G>C http://identifiers.org/clinvar/303836 ^@ NM_001909.4(CTSD):c.946G>A (p.Gly316Arg) http://identifiers.org/clinvar/310740 ^@ NM_018979.3(WNK1):c.1834G>A (p.Gly612Ser) http://identifiers.org/clinvar/303846 ^@ NM_001909.4(CTSD):c.-132_-131insCCCGC http://identifiers.org/clinvar/303855 ^@ NM_181507.1(HPS5):c.*688A>G http://identifiers.org/clinvar/304774 ^@ NM_004813.2(PEX16):c.*491G>A http://identifiers.org/clinvar/321245 ^@ NM_000303.2(PMM2):c.*658C>T http://identifiers.org/clinvar/310744 ^@ NM_018979.3(WNK1):c.2081T>C (p.Ile694Thr) http://identifiers.org/clinvar/321248 ^@ NM_000303.2(PMM2):c.*791G>C http://identifiers.org/clinvar/303860 ^@ NM_181507.1(HPS5):c.*362G>A http://identifiers.org/clinvar/321250 ^@ NM_000303.2(PMM2):c.*888A>G http://identifiers.org/clinvar/310746 ^@ NM_018979.3(WNK1):c.2246C>T (p.Ala749Val) http://identifiers.org/clinvar/303861 ^@ NM_181507.1(HPS5):c.*300T>C http://identifiers.org/clinvar/321254 ^@ NM_000303.2(PMM2):c.*994A>T http://identifiers.org/clinvar/321266 ^@ NM_000303.2(PMM2):c.*1259C>G http://identifiers.org/clinvar/321272 ^@ NM_000303.2(PMM2):c.*1360C>T http://identifiers.org/clinvar/321273 ^@ NM_000303.2(PMM2):c.*1375G>T http://identifiers.org/clinvar/303862 ^@ NM_181507.1(HPS5):c.*299C>T http://identifiers.org/clinvar/321155 ^@ NM_000485.2(APRT):c.*182A>G http://identifiers.org/clinvar/304781 ^@ NM_004813.2(PEX16):c.*303C>T http://identifiers.org/clinvar/303864 ^@ NM_181507.1(HPS5):c.*70C>T http://identifiers.org/clinvar/304785 ^@ NM_004813.2(PEX16):c.*65T>C http://identifiers.org/clinvar/321156 ^@ NM_000485.2(APRT):c.*178A>G http://identifiers.org/clinvar/321170 ^@ NM_000512.4(GALNS):c.*611A>G http://identifiers.org/clinvar/304786 ^@ NM_004813.2(PEX16):c.946G>A (p.Val316Ile) http://identifiers.org/clinvar/304792 ^@ NM_004813.2(PEX16):c.628C>T (p.Pro210Ser) http://identifiers.org/clinvar/310750 ^@ NM_018979.3(WNK1):c.2508C>T (p.Leu836=) http://identifiers.org/clinvar/310751 ^@ NM_018979.3(WNK1):c.2624C>G (p.Thr875Arg) http://identifiers.org/clinvar/310753 ^@ NM_018979.3(WNK1):c.2658G>C (p.Pro886=) http://identifiers.org/clinvar/303868 ^@ NM_181507.1(HPS5):c.3214G>A (p.Ala1072Thr) http://identifiers.org/clinvar/303875 ^@ NM_181507.1(HPS5):c.2521G>T (p.Val841Phe) http://identifiers.org/clinvar/310583 ^@ NM_025114.3(CEP290):c.*143_*146delTAAA http://identifiers.org/clinvar/310584 ^@ NM_025114.3(CEP290):c.7375C>T (p.Pro2459Ser) http://identifiers.org/clinvar/303878 ^@ NM_181507.1(HPS5):c.2247A>G (p.Val749=) http://identifiers.org/clinvar/303880 ^@ NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) http://identifiers.org/clinvar/321189 ^@ NM_000512.4(GALNS):c.1376C>T (p.Ala459Val) http://identifiers.org/clinvar/321190 ^@ NM_000512.4(GALNS):c.1278G>T (p.Gly426=) http://identifiers.org/clinvar/304794 ^@ NM_004813.2(PEX16):c.540C>G (p.Asn180Lys) http://identifiers.org/clinvar/304799 ^@ NM_004813.2(PEX16):c.-164G>T http://identifiers.org/clinvar/310585 ^@ NM_025114.3(CEP290):c.7365A>G (p.Glu2455=) http://identifiers.org/clinvar/304808 ^@ NM_000506.4(F2):c.559+5G>A http://identifiers.org/clinvar/304815 ^@ NM_000506.4(F2):c.992C>T (p.Ser331Leu) http://identifiers.org/clinvar/310586 ^@ NM_025114.3(CEP290):c.7276G>A (p.Asp2426Asn) http://identifiers.org/clinvar/321192 ^@ NM_000512.4(GALNS):c.1243-10C>G http://identifiers.org/clinvar/310587 ^@ NM_025114.3(CEP290):c.7209+11_7209+14delATTA http://identifiers.org/clinvar/321205 ^@ NM_000512.4(GALNS):c.451C>A (p.Pro151Thr) http://identifiers.org/clinvar/310588 ^@ NM_025114.3(CEP290):c.7209+7T>G http://identifiers.org/clinvar/303884 ^@ NM_181507.1(HPS5):c.1785-9C>A http://identifiers.org/clinvar/304823 ^@ NM_000506.4(F2):c.*44G>T http://identifiers.org/clinvar/321278 ^@ NM_003119.3(SPG7):c.618+14C>T http://identifiers.org/clinvar/303885 ^@ NM_181507.1(HPS5):c.1609G>T (p.Val537Leu) http://identifiers.org/clinvar/304825 ^@ NM_002334.3(LRP4):c.*2104C>G http://identifiers.org/clinvar/310590 ^@ NM_025114.3(CEP290):c.5842G>T (p.Asp1948Tyr) http://identifiers.org/clinvar/303889 ^@ NM_181507.1(HPS5):c.1496C>T (p.Ser499Leu) http://identifiers.org/clinvar/304826 ^@ NM_002334.3(LRP4):c.*2082dupT http://identifiers.org/clinvar/310591 ^@ NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) http://identifiers.org/clinvar/310593 ^@ NM_025114.3(CEP290):c.5587-8T>C http://identifiers.org/clinvar/304827 ^@ NM_002334.3(LRP4):c.*1825_*1826delGT http://identifiers.org/clinvar/321287 ^@ NM_003119.3(SPG7):c.2083C>G (p.Leu695Val) http://identifiers.org/clinvar/304834 ^@ NM_002334.3(LRP4):c.*929C>A http://identifiers.org/clinvar/303893 ^@ NM_181507.1(HPS5):c.1076G>A (p.Arg359His) http://identifiers.org/clinvar/304835 ^@ NM_002334.3(LRP4):c.*780C>T http://identifiers.org/clinvar/303897 ^@ NM_181507.1(HPS5):c.260A>T (p.Asp87Val) http://identifiers.org/clinvar/321290 ^@ NM_003119.3(SPG7):c.*33C>T http://identifiers.org/clinvar/321297 ^@ NM_003119.3(SPG7):c.*491_*492insCACA http://identifiers.org/clinvar/303898 ^@ NM_181507.1(HPS5):c.241G>A (p.Ala81Thr) http://identifiers.org/clinvar/321305 ^@ NM_000135.2(FANCA):c.*937A>G http://identifiers.org/clinvar/310594 ^@ NM_025114.3(CEP290):c.5543A>G (p.Asp1848Gly) http://identifiers.org/clinvar/321321 ^@ NM_000135.2(FANCA):c.*252G>C http://identifiers.org/clinvar/310597 ^@ NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly) http://identifiers.org/clinvar/310604 ^@ NM_025114.3(CEP290):c.4064G>A (p.Arg1355His) http://identifiers.org/clinvar/303900 ^@ NM_181507.1(HPS5):c.-64A>G http://identifiers.org/clinvar/321326 ^@ NM_000135.2(FANCA):c.4274G>A (p.Arg1425His) http://identifiers.org/clinvar/303901 ^@ NM_181507.1(HPS5):c.-91C>G http://identifiers.org/clinvar/303902 ^@ NM_181507.1(HPS5):c.-142C>T http://identifiers.org/clinvar/310607 ^@ NM_025114.3(CEP290):c.3574-15T>A http://identifiers.org/clinvar/321327 ^@ NM_000135.2(FANCA):c.4064A>T (p.His1355Leu) http://identifiers.org/clinvar/304838 ^@ NM_002334.3(LRP4):c.*561T>C http://identifiers.org/clinvar/321329 ^@ NM_000135.2(FANCA):c.3950G>A (p.Arg1317Gln) http://identifiers.org/clinvar/304840 ^@ NM_002334.3(LRP4):c.*305C>T http://identifiers.org/clinvar/304842 ^@ NM_002334.3(LRP4):c.*104C>T http://identifiers.org/clinvar/310612 ^@ NM_025114.3(CEP290):c.2447G>A (p.Arg816His) http://identifiers.org/clinvar/321337 ^@ NM_000135.2(FANCA):c.3514-13G>A http://identifiers.org/clinvar/304844 ^@ NM_002334.3(LRP4):c.5672C>T (p.Thr1891Met) http://identifiers.org/clinvar/321358 ^@ NM_000135.2(FANCA):c.1518C>T (p.Leu506=) http://identifiers.org/clinvar/310613 ^@ NM_025114.3(CEP290):c.2217+3G>A http://identifiers.org/clinvar/321359 ^@ NM_000135.2(FANCA):c.1360-7C>T http://identifiers.org/clinvar/310614 ^@ NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) http://identifiers.org/clinvar/303904 ^@ NM_181507.1(HPS5):c.-217G>A http://identifiers.org/clinvar/321362 ^@ NM_000135.2(FANCA):c.1209G>A (p.Ala403=) http://identifiers.org/clinvar/304852 ^@ NM_002334.3(LRP4):c.4923C>T (p.Asp1641=) http://identifiers.org/clinvar/303906 ^@ NM_181507.1(HPS5):c.-251C>A http://identifiers.org/clinvar/304854 ^@ NM_002334.3(LRP4):c.4837+10C>T http://identifiers.org/clinvar/321365 ^@ NM_000135.2(FANCA):c.695G>A (p.Arg232Lys) http://identifiers.org/clinvar/321370 ^@ NM_000135.2(FANCA):c.386C>T (p.Ala129Val) http://identifiers.org/clinvar/304855 ^@ NM_002334.3(LRP4):c.4660A>G (p.Ser1554Gly) http://identifiers.org/clinvar/304858 ^@ NM_002334.3(LRP4):c.4536A>T (p.Thr1512=) http://identifiers.org/clinvar/310620 ^@ NM_025114.3(CEP290):c.1359G>A (p.Ser453=) http://identifiers.org/clinvar/304859 ^@ NM_002334.3(LRP4):c.4400A>G (p.Asn1467Ser) http://identifiers.org/clinvar/310621 ^@ NM_025114.3(CEP290):c.1345A>G (p.Lys449Glu) http://identifiers.org/clinvar/321373 ^@ NM_000135.2(FANCA):c.189+12C>G http://identifiers.org/clinvar/310631 ^@ NM_025114.3(CEP290):c.442-11delT http://identifiers.org/clinvar/321376 ^@ NM_000135.2(FANCA):c.21G>T (p.Pro7=) http://identifiers.org/clinvar/304861 ^@ NM_002334.3(LRP4):c.4293C>T (p.Asp1431=) http://identifiers.org/clinvar/304866 ^@ NM_002334.3(LRP4):c.3752C>T (p.Pro1251Leu) http://identifiers.org/clinvar/303917 ^@ NM_005566.3(LDHA):c.951G>A (p.Lys317=) http://identifiers.org/clinvar/321378 ^@ NM_002386.3(MC1R):c.-1307A>C http://identifiers.org/clinvar/303927 ^@ NM_005566.3(LDHA):c.*660C>T http://identifiers.org/clinvar/303945 ^@ NM_003476.4(CSRP3):c.*629T>C http://identifiers.org/clinvar/304871 ^@ NM_002334.3(LRP4):c.3278-6C>T http://identifiers.org/clinvar/321381 ^@ NM_002386.3(MC1R):c.-1274G>C http://identifiers.org/clinvar/304872 ^@ NM_002334.3(LRP4):c.3256A>G (p.Ile1086Val) http://identifiers.org/clinvar/304889 ^@ NM_002334.3(LRP4):c.1284C>T (p.Pro428=) http://identifiers.org/clinvar/310629 ^@ NM_025114.3(CEP290):c.442-11dupT http://identifiers.org/clinvar/321389 ^@ NM_002386.3(MC1R):c.-1063T>C http://identifiers.org/clinvar/303974 ^@ NM_006757.3(TNNT3):c.480+10G>T http://identifiers.org/clinvar/321390 ^@ NM_002386.3(MC1R):c.-1006G>T http://identifiers.org/clinvar/303976 ^@ NM_006757.3(TNNT3):c.668G>C (p.Arg223Pro) http://identifiers.org/clinvar/303982 ^@ NM_006757.3(TNNT3):c.*151G>A http://identifiers.org/clinvar/310632 ^@ NM_025114.3(CEP290):c.54G>A (p.Leu18=) http://identifiers.org/clinvar/321393 ^@ NM_002386.3(MC1R):c.-975G>A http://identifiers.org/clinvar/321399 ^@ NM_002386.3(MC1R):c.-536C>T http://identifiers.org/clinvar/303989 ^@ NM_004211.4(SLC6A5):c.-82delG http://identifiers.org/clinvar/303990 ^@ NM_004211.4(SLC6A5):c.-41G>T http://identifiers.org/clinvar/304890 ^@ NM_002334.3(LRP4):c.1117C>T (p.Arg373Trp) http://identifiers.org/clinvar/310642 ^@ NM_025114.3(CEP290):c.-295T>C http://identifiers.org/clinvar/321401 ^@ NM_002386.3(MC1R):c.-508C>T http://identifiers.org/clinvar/303994 ^@ NM_004211.4(SLC6A5):c.59C>T (p.Ala20Val) http://identifiers.org/clinvar/304892 ^@ NM_002334.3(LRP4):c.941T>C (p.Leu314Ser) http://identifiers.org/clinvar/303995 ^@ NM_004211.4(SLC6A5):c.77C>T (p.Pro26Leu) http://identifiers.org/clinvar/303999 ^@ NM_004211.4(SLC6A5):c.137C>G (p.Pro46Arg) http://identifiers.org/clinvar/304907 ^@ NM_002334.3(LRP4):c.-133G>A http://identifiers.org/clinvar/304912 ^@ NM_000107.2(DDB2):c.-123T>G http://identifiers.org/clinvar/321421 ^@ NM_002386.3(MC1R):c.200G>A (p.Arg67Gln) http://identifiers.org/clinvar/321425 ^@ NM_002386.3(MC1R):c.318G>A (p.Leu106=) http://identifiers.org/clinvar/321428 ^@ NM_002386.3(MC1R):c.453C>G (p.Arg151=) http://identifiers.org/clinvar/304914 ^@ NM_000107.2(DDB2):c.-56A>G http://identifiers.org/clinvar/321429 ^@ NM_002386.3(MC1R):c.496dupG (p.Ala166Glyfs) http://identifiers.org/clinvar/304000 ^@ NM_004211.4(SLC6A5):c.150T>G (p.Arg50=) http://identifiers.org/clinvar/304010 ^@ NM_004211.4(SLC6A5):c.445G>T (p.Val149Leu) http://identifiers.org/clinvar/304020 ^@ NM_004211.4(SLC6A5):c.1281G>A (p.Thr427=) http://identifiers.org/clinvar/304916 ^@ NM_000107.2(DDB2):c.264+8A>G http://identifiers.org/clinvar/304923 ^@ NM_000107.2(DDB2):c.930C>T (p.Ser310=) http://identifiers.org/clinvar/321432 ^@ NM_002386.3(MC1R):c.556G>A (p.Val186Met) http://identifiers.org/clinvar/304924 ^@ NM_000107.2(DDB2):c.979A>T (p.Ile327Phe) http://identifiers.org/clinvar/321452 ^@ NM_002386.3(MC1R):c.*501C>G http://identifiers.org/clinvar/304926 ^@ NM_000107.2(DDB2):c.1023+9C>T http://identifiers.org/clinvar/304928 ^@ NM_000107.2(DDB2):c.1180A>G (p.Ile394Val) http://identifiers.org/clinvar/321453 ^@ NM_002386.3(MC1R):c.*545C>T http://identifiers.org/clinvar/304931 ^@ NM_000107.2(DDB2):c.*126T>C http://identifiers.org/clinvar/304935 ^@ NM_000256.3(MYBPC3):c.*293A>G http://identifiers.org/clinvar/310817 ^@ NM_018979.3(WNK1):c.3354A>C (p.Pro1118=) http://identifiers.org/clinvar/321454 ^@ NM_002386.3(MC1R):c.*581A>G http://identifiers.org/clinvar/310819 ^@ NM_018979.3(WNK1):c.3527C>T (p.Ser1176Leu) http://identifiers.org/clinvar/321461 ^@ NM_000833.4(GRIN2A):c.*9325G>C http://identifiers.org/clinvar/321463 ^@ NM_000833.4(GRIN2A):c.*9207G>A http://identifiers.org/clinvar/304025 ^@ NM_004211.4(SLC6A5):c.1496A>T (p.Tyr499Phe) http://identifiers.org/clinvar/304029 ^@ NM_004211.4(SLC6A5):c.1653G>A (p.Pro551=) http://identifiers.org/clinvar/310832 ^@ NM_018979.3(WNK1):c.4983T>C (p.Ser1661=) http://identifiers.org/clinvar/321464 ^@ NM_000833.4(GRIN2A):c.*8978G>C http://identifiers.org/clinvar/304030 ^@ NM_004211.4(SLC6A5):c.1863C>T (p.Ile621=) http://identifiers.org/clinvar/321465 ^@ NM_000833.4(GRIN2A):c.*8781G>A http://identifiers.org/clinvar/304937 ^@ NM_000256.3(MYBPC3):c.*230delA http://identifiers.org/clinvar/321467 ^@ NM_000833.4(GRIN2A):c.*8626G>C http://identifiers.org/clinvar/321470 ^@ NM_000833.4(GRIN2A):c.*8536_*8537insC http://identifiers.org/clinvar/321472 ^@ NM_000833.4(GRIN2A):c.*8398G>A http://identifiers.org/clinvar/304939 ^@ NM_000256.3(MYBPC3):c.*131T>C http://identifiers.org/clinvar/304941 ^@ NM_000256.3(MYBPC3):c.*119C>A http://identifiers.org/clinvar/304943 ^@ NM_000256.3(MYBPC3):c.*113G>T http://identifiers.org/clinvar/304032 ^@ NM_004211.4(SLC6A5):c.2070C>T (p.Thr690=) http://identifiers.org/clinvar/321474 ^@ NM_000833.4(GRIN2A):c.*8359T>C http://identifiers.org/clinvar/310834 ^@ NM_018979.3(WNK1):c.5370G>T (p.Gln1790His) http://identifiers.org/clinvar/321481 ^@ NM_000833.4(GRIN2A):c.*7650_*7654delTAAGT http://identifiers.org/clinvar/321492 ^@ NM_000833.4(GRIN2A):c.*7023_*7024dupCA http://identifiers.org/clinvar/310838 ^@ NM_018979.3(WNK1):c.5496G>A (p.Gln1832=) http://identifiers.org/clinvar/321507 ^@ NM_000833.4(GRIN2A):c.*6475T>A http://identifiers.org/clinvar/304949 ^@ NM_000256.3(MYBPC3):c.2892G>T (p.Val964=) http://identifiers.org/clinvar/304951 ^@ NM_000256.3(MYBPC3):c.2737+14C>A http://identifiers.org/clinvar/304952 ^@ NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala) http://identifiers.org/clinvar/304956 ^@ NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr) http://identifiers.org/clinvar/306616 ^@ NM_018979.3(WNK1):c.6032C>A (p.Ser2011Tyr) http://identifiers.org/clinvar/304033 ^@ NM_004211.4(SLC6A5):c.2071-3C>A http://identifiers.org/clinvar/321509 ^@ NM_000833.4(GRIN2A):c.*6449G>T http://identifiers.org/clinvar/321510 ^@ NM_000833.4(GRIN2A):c.*6444G>A http://identifiers.org/clinvar/304040 ^@ NM_004211.4(SLC6A5):c.2299G>A (p.Gly767Arg) http://identifiers.org/clinvar/304043 ^@ NM_004211.4(SLC6A5):c.*3C>T http://identifiers.org/clinvar/304958 ^@ NM_000256.3(MYBPC3):c.1113G>A (p.Pro371=) http://identifiers.org/clinvar/321513 ^@ NM_000833.4(GRIN2A):c.*6178T>C http://identifiers.org/clinvar/304960 ^@ NM_000256.3(MYBPC3):c.927-7G>T http://identifiers.org/clinvar/304968 ^@ NM_005055.4(RAPSN):c.*57C>T http://identifiers.org/clinvar/321523 ^@ NM_000833.4(GRIN2A):c.*5775dupT http://identifiers.org/clinvar/306665 ^@ NM_018979.3(WNK1):c.7139G>A (p.Arg2380Gln) http://identifiers.org/clinvar/321527 ^@ NM_000833.4(GRIN2A):c.*5512T>C http://identifiers.org/clinvar/304044 ^@ NM_004211.4(SLC6A5):c.*23G>T http://identifiers.org/clinvar/321532 ^@ NM_000833.4(GRIN2A):c.*5365G>A http://identifiers.org/clinvar/304046 ^@ NM_004211.4(SLC6A5):c.*160C>T http://identifiers.org/clinvar/306667 ^@ NM_018979.3(WNK1):c.*164G>A http://identifiers.org/clinvar/306672 ^@ NM_018979.3(WNK1):c.*441C>G http://identifiers.org/clinvar/304970 ^@ NM_005055.4(RAPSN):c.1066G>A (p.Val356Met) http://identifiers.org/clinvar/304048 ^@ NM_004211.4(SLC6A5):c.*184T>C http://identifiers.org/clinvar/321534 ^@ NM_000833.4(GRIN2A):c.*5112C>T http://identifiers.org/clinvar/304973 ^@ NM_005055.4(RAPSN):c.821G>A (p.Ser274Asn) http://identifiers.org/clinvar/321543 ^@ NM_000833.4(GRIN2A):c.*4251C>T http://identifiers.org/clinvar/304976 ^@ NM_005055.4(RAPSN):c.691-4G>T http://identifiers.org/clinvar/304981 ^@ NM_005055.4(RAPSN):c.360G>T (p.Gln120His) http://identifiers.org/clinvar/321545 ^@ NM_000833.4(GRIN2A):c.*4036A>G http://identifiers.org/clinvar/304987 ^@ NM_005055.4(RAPSN):c.-118C>A http://identifiers.org/clinvar/304997 ^@ NM_004551.2(NDUFS3):c.657G>A (p.Val219=) http://identifiers.org/clinvar/306680 ^@ NM_018979.3(WNK1):c.*758C>G http://identifiers.org/clinvar/321547 ^@ NM_000833.4(GRIN2A):c.*3721T>C http://identifiers.org/clinvar/306682 ^@ NM_018979.3(WNK1):c.*766G>A http://identifiers.org/clinvar/321549 ^@ NM_000833.4(GRIN2A):c.*3543G>C http://identifiers.org/clinvar/306685 ^@ NM_018979.3(WNK1):c.*1056C>A http://identifiers.org/clinvar/321558 ^@ NM_000833.4(GRIN2A):c.*2924A>C http://identifiers.org/clinvar/304050 ^@ NM_000207.2(INS):c.*28G>A http://identifiers.org/clinvar/304051 ^@ NM_000207.2(INS):c.*22A>C http://identifiers.org/clinvar/304056 ^@ NM_000207.2(INS):c.66C>T (p.Ala22=) http://identifiers.org/clinvar/306695 ^@ NM_018979.3(WNK1):c.*1517T>C http://identifiers.org/clinvar/306699 ^@ NM_018979.3(WNK1):c.*1764G>T http://identifiers.org/clinvar/304060 ^@ NM_000207.2(INS):c.-18+4_-18+5insTTGC http://identifiers.org/clinvar/304066 ^@ NM_000360.3(TH):c.1401C>T (p.Asp467=) http://identifiers.org/clinvar/304068 ^@ NM_000360.3(TH):c.1368C>T (p.Ser456=) http://identifiers.org/clinvar/321560 ^@ NM_000833.4(GRIN2A):c.*2803A>G http://identifiers.org/clinvar/306700 ^@ NM_018979.3(WNK1):c.*1869A>G http://identifiers.org/clinvar/321563 ^@ NM_000833.4(GRIN2A):c.*2771_*2774dupAAAA http://identifiers.org/clinvar/306710 ^@ NM_018979.3(WNK1):c.*1971G>C http://identifiers.org/clinvar/306729 ^@ NM_018979.3(WNK1):c.*2413G>T http://identifiers.org/clinvar/306731 ^@ NM_018979.3(WNK1):c.*2474A>G http://identifiers.org/clinvar/310644 ^@ NM_001920.4(DCN):c.*377T>C http://identifiers.org/clinvar/304079 ^@ NM_000360.3(TH):c.398G>A (p.Arg133His) http://identifiers.org/clinvar/304082 ^@ NM_000360.3(TH):c.313-9C>T http://identifiers.org/clinvar/310646 ^@ NM_001920.4(DCN):c.*220G>C http://identifiers.org/clinvar/304089 ^@ NM_213599.2(ANO5):c.-261A>C http://identifiers.org/clinvar/321568 ^@ NM_000833.4(GRIN2A):c.*2509G>A http://identifiers.org/clinvar/304092 ^@ NM_213599.2(ANO5):c.-194G>T http://identifiers.org/clinvar/310651 ^@ NM_001920.4(DCN):c.1062A>T (p.Gln354His) http://identifiers.org/clinvar/305006 ^@ NM_000519.3(HBD):c.-60A>T http://identifiers.org/clinvar/321572 ^@ NM_000833.4(GRIN2A):c.*2053C>T http://identifiers.org/clinvar/305011 ^@ NM_000062.2(SERPING1):c.-99C>G http://identifiers.org/clinvar/305012 ^@ NM_000062.2(SERPING1):c.-56T>G http://identifiers.org/clinvar/304104 ^@ NM_213599.2(ANO5):c.1924C>G (p.Arg642Gly) http://identifiers.org/clinvar/310652 ^@ NM_001920.4(DCN):c.975G>A (p.Ser325=) http://identifiers.org/clinvar/304105 ^@ NM_213599.2(ANO5):c.2139C>T (p.Thr713=) http://identifiers.org/clinvar/310654 ^@ NM_001920.4(DCN):c.917T>C (p.Val306Ala) http://identifiers.org/clinvar/321573 ^@ NM_000833.4(GRIN2A):c.*2017C>G http://identifiers.org/clinvar/310657 ^@ NM_001920.4(DCN):c.621T>G (p.Ile207Met) http://identifiers.org/clinvar/321574 ^@ NM_000833.4(GRIN2A):c.*1998A>T http://identifiers.org/clinvar/305020 ^@ NM_000062.2(SERPING1):c.167T>C (p.Val56Ala) http://identifiers.org/clinvar/321575 ^@ NM_000833.4(GRIN2A):c.*1806G>A http://identifiers.org/clinvar/304109 ^@ NM_213599.2(ANO5):c.2317A>G (p.Met773Val) http://identifiers.org/clinvar/304111 ^@ NM_213599.2(ANO5):c.2580T>C (p.Asp860=) http://identifiers.org/clinvar/305022 ^@ NM_000062.2(SERPING1):c.285C>A (p.Thr95=) http://identifiers.org/clinvar/321577 ^@ NM_000833.4(GRIN2A):c.*1539T>G http://identifiers.org/clinvar/321578 ^@ NM_000833.4(GRIN2A):c.*1535C>T http://identifiers.org/clinvar/321580 ^@ NM_000833.4(GRIN2A):c.*1463C>T http://identifiers.org/clinvar/304112 ^@ NM_213599.2(ANO5):c.*99delC http://identifiers.org/clinvar/305024 ^@ NM_000062.2(SERPING1):c.468C>T (p.Ala156=) http://identifiers.org/clinvar/305025 ^@ NM_000062.2(SERPING1):c.686-5C>G http://identifiers.org/clinvar/304116 ^@ NM_213599.2(ANO5):c.*114C>T http://identifiers.org/clinvar/305026 ^@ NM_000062.2(SERPING1):c.751C>T (p.Leu251=) http://identifiers.org/clinvar/305028 ^@ NM_000062.2(SERPING1):c.1218C>T (p.Ser406=) http://identifiers.org/clinvar/310660 ^@ NM_001920.4(DCN):c.282C>T (p.Thr94=) http://identifiers.org/clinvar/321585 ^@ NM_000833.4(GRIN2A):c.*1002C>T http://identifiers.org/clinvar/321588 ^@ NM_000833.4(GRIN2A):c.*678G>A http://identifiers.org/clinvar/310661 ^@ NM_001920.4(DCN):c.212-6T>C http://identifiers.org/clinvar/310662 ^@ NM_001920.4(DCN):c.54G>A (p.Pro18=) http://identifiers.org/clinvar/310666 ^@ NM_001920.4(DCN):c.-249A>G http://identifiers.org/clinvar/321593 ^@ NM_000833.4(GRIN2A):c.*525G>A http://identifiers.org/clinvar/321597 ^@ NM_000833.4(GRIN2A):c.*121G>T http://identifiers.org/clinvar/305029 ^@ NM_005142.2(GIF):c.*56T>G http://identifiers.org/clinvar/305038 ^@ NM_005142.2(GIF):c.379G>A (p.Ala127Thr) http://identifiers.org/clinvar/321600 ^@ NM_000833.4(GRIN2A):c.3809A>T (p.Asp1270Val) http://identifiers.org/clinvar/310667 ^@ NM_001920.4(DCN):c.-296C>T http://identifiers.org/clinvar/310673 ^@ NM_002108.3(HAL):c.*1499A>G http://identifiers.org/clinvar/305045 ^@ NM_005142.2(GIF):c.79+3G>A http://identifiers.org/clinvar/305057 ^@ NM_016464.4(TMEM138):c.-164T>C http://identifiers.org/clinvar/304119 ^@ NM_213599.2(ANO5):c.*279G>A http://identifiers.org/clinvar/304127 ^@ NM_213599.2(ANO5):c.*1095G>A http://identifiers.org/clinvar/321603 ^@ NM_000833.4(GRIN2A):c.3561C>T (p.Tyr1187=) http://identifiers.org/clinvar/321611 ^@ NM_000833.4(GRIN2A):c.2478C>T (p.Ala826=) http://identifiers.org/clinvar/305058 ^@ NM_016464.4(TMEM138):c.-157C>G http://identifiers.org/clinvar/304129 ^@ NM_213599.2(ANO5):c.*1248A>G http://identifiers.org/clinvar/304130 ^@ NM_213599.2(ANO5):c.*1286G>T http://identifiers.org/clinvar/310675 ^@ NM_002108.3(HAL):c.*1409G>A http://identifiers.org/clinvar/304146 ^@ NM_213599.2(ANO5):c.*2207A>T http://identifiers.org/clinvar/304149 ^@ NM_213599.2(ANO5):c.*2293G>C http://identifiers.org/clinvar/321616 ^@ NM_000833.4(GRIN2A):c.1263C>T (p.Asp421=) http://identifiers.org/clinvar/304156 ^@ NM_213599.2(ANO5):c.*2869A>G http://identifiers.org/clinvar/304162 ^@ NM_213599.2(ANO5):c.*3168C>T http://identifiers.org/clinvar/304166 ^@ NM_213599.2(ANO5):c.*3251_*3253delACT http://identifiers.org/clinvar/304169 ^@ NM_213599.2(ANO5):c.*3373C>A http://identifiers.org/clinvar/305060 ^@ NM_016464.4(TMEM138):c.-24G>A http://identifiers.org/clinvar/305071 ^@ NM_016464.4(TMEM138):c.*407G>C http://identifiers.org/clinvar/304172 ^@ NM_022725.3(FANCF):c.*2123G>A http://identifiers.org/clinvar/305072 ^@ NM_001173990.2(TMEM216):c.-242C>T http://identifiers.org/clinvar/305079 ^@ NM_001173990.2(TMEM216):c.344G>A (p.Arg115His) http://identifiers.org/clinvar/317668 ^@ NM_000833.4(GRIN2A):c.568A>G (p.Thr190Ala) http://identifiers.org/clinvar/304180 ^@ NM_022725.3(FANCF):c.*1509G>C http://identifiers.org/clinvar/321621 ^@ NM_002472.2(MYH8):c.5736G>C (p.Arg1912=) http://identifiers.org/clinvar/304181 ^@ NM_022725.3(FANCF):c.*1338dupA http://identifiers.org/clinvar/304182 ^@ NM_022725.3(FANCF):c.*1190C>A http://identifiers.org/clinvar/304188 ^@ NM_022725.3(FANCF):c.*695dupT http://identifiers.org/clinvar/321624 ^@ NM_002472.2(MYH8):c.5166+14A>G http://identifiers.org/clinvar/304192 ^@ NM_022725.3(FANCF):c.*597G>A http://identifiers.org/clinvar/304194 ^@ NM_022725.3(FANCF):c.*499T>C http://identifiers.org/clinvar/310677 ^@ NM_002108.3(HAL):c.*1312C>T http://identifiers.org/clinvar/310679 ^@ NM_002108.3(HAL):c.*1241A>C http://identifiers.org/clinvar/304195 ^@ NM_022725.3(FANCF):c.*319A>G http://identifiers.org/clinvar/304199 ^@ NM_022725.3(FANCF):c.*7C>G http://identifiers.org/clinvar/310680 ^@ NM_002108.3(HAL):c.*1178A>G http://identifiers.org/clinvar/310681 ^@ NM_002108.3(HAL):c.*1169G>T http://identifiers.org/clinvar/310704 ^@ NM_002108.3(HAL):c.1764-5T>C http://identifiers.org/clinvar/305085 ^@ NM_001173990.2(TMEM216):c.*107G>T http://identifiers.org/clinvar/310712 ^@ NM_002108.3(HAL):c.921T>C (p.Asn307=) http://identifiers.org/clinvar/321626 ^@ NM_002472.2(MYH8):c.4910G>A (p.Arg1637His) http://identifiers.org/clinvar/310714 ^@ NM_002108.3(HAL):c.855+9C>T http://identifiers.org/clinvar/321628 ^@ NM_002472.2(MYH8):c.4738G>A (p.Ala1580Thr) http://identifiers.org/clinvar/310724 ^@ NM_002108.3(HAL):c.308+14C>T http://identifiers.org/clinvar/310726 ^@ NM_002108.3(HAL):c.94G>T (p.Val32Leu) http://identifiers.org/clinvar/305087 ^@ NM_001173990.2(TMEM216):c.*335G>A http://identifiers.org/clinvar/310727 ^@ NM_002108.3(HAL):c.77G>A (p.Trp26Ter) http://identifiers.org/clinvar/321629 ^@ NM_002472.2(MYH8):c.4692C>A (p.Ile1564=) http://identifiers.org/clinvar/321630 ^@ NM_002472.2(MYH8):c.4688G>A (p.Arg1563His) http://identifiers.org/clinvar/321639 ^@ NM_002472.2(MYH8):c.3255-8G>A http://identifiers.org/clinvar/310728 ^@ NM_002108.3(HAL):c.9A>G (p.Arg3=) http://identifiers.org/clinvar/310735 ^@ NM_002108.3(HAL):c.-322T>C http://identifiers.org/clinvar/304203 ^@ NM_022725.3(FANCF):c.436C>G (p.Leu146Val) http://identifiers.org/clinvar/321641 ^@ NM_002472.2(MYH8):c.2987C>G (p.Ser996Cys) http://identifiers.org/clinvar/305089 ^@ NM_001173990.2(TMEM216):c.*444T>C http://identifiers.org/clinvar/321650 ^@ NM_002472.2(MYH8):c.1009-4G>A http://identifiers.org/clinvar/321652 ^@ NM_002472.2(MYH8):c.840A>G (p.Leu280=) http://identifiers.org/clinvar/321654 ^@ NM_002472.2(MYH8):c.605C>T (p.Ala202Val) http://identifiers.org/clinvar/304207 ^@ NM_022725.3(FANCF):c.199A>C (p.Arg67=) http://identifiers.org/clinvar/304208 ^@ NM_022725.3(FANCF):c.101C>T (p.Ala34Val) http://identifiers.org/clinvar/310754 ^@ NM_003276.2(TMPO):c.-255C>A http://identifiers.org/clinvar/321658 ^@ NM_002472.2(MYH8):c.-7C>T http://identifiers.org/clinvar/310762 ^@ NM_003276.2(TMPO):c.566-4A>G http://identifiers.org/clinvar/304211 ^@ NM_022725.3(FANCF):c.-31T>C http://identifiers.org/clinvar/305091 ^@ NM_017841.2(SDHAF2):c.330C>A (p.Asn110Lys) http://identifiers.org/clinvar/321660 ^@ NM_002472.2(MYH8):c.-65C>T http://identifiers.org/clinvar/304216 ^@ NM_000218.2(KCNQ1):c.387-7C>T http://identifiers.org/clinvar/305093 ^@ NM_017841.2(SDHAF2):c.*49A>G http://identifiers.org/clinvar/321661 ^@ NM_017534.5(MYH2):c.5744G>A (p.Arg1915Gln) http://identifiers.org/clinvar/305096 ^@ NM_017841.2(SDHAF2):c.*113C>A http://identifiers.org/clinvar/321662 ^@ NM_017534.5(MYH2):c.5294T>A (p.Ile1765Asn) http://identifiers.org/clinvar/305097 ^@ NM_017841.2(SDHAF2):c.*170C>A http://identifiers.org/clinvar/321666 ^@ NM_017534.5(MYH2):c.4537+7C>T http://identifiers.org/clinvar/305100 ^@ NM_017841.2(SDHAF2):c.*377T>C http://identifiers.org/clinvar/310768 ^@ NM_003276.2(TMPO):c.1362C>A (p.Ser454=) http://identifiers.org/clinvar/321667 ^@ NM_017534.5(MYH2):c.4158C>A (p.Ile1386=) http://identifiers.org/clinvar/321668 ^@ NM_017534.5(MYH2):c.4149G>A (p.Thr1383=) http://identifiers.org/clinvar/310770 ^@ NM_003276.2(TMPO):c.1685A>G (p.Asn562Ser) http://identifiers.org/clinvar/305104 ^@ NM_017841.2(SDHAF2):c.*446C>G http://identifiers.org/clinvar/305107 ^@ NM_017841.2(SDHAF2):c.*653A>G http://identifiers.org/clinvar/310771 ^@ NM_003276.2(TMPO):c.1718A>G (p.Tyr573Cys) http://identifiers.org/clinvar/305108 ^@ NM_017841.2(SDHAF2):c.*669A>G http://identifiers.org/clinvar/310778 ^@ NM_003276.2(TMPO):c.*332G>A http://identifiers.org/clinvar/304217 ^@ NM_000218.2(KCNQ1):c.650C>T (p.Ser217Phe) http://identifiers.org/clinvar/305109 ^@ NM_004183.3(BEST1):c.-536T>C http://identifiers.org/clinvar/305110 ^@ NM_004183.3(BEST1):c.-428C>T http://identifiers.org/clinvar/310780 ^@ NM_003276.2(TMPO):c.*356C>T http://identifiers.org/clinvar/310788 ^@ NM_003276.2(TMPO):c.*985G>A http://identifiers.org/clinvar/310792 ^@ NM_005888.3(SLC25A3):c.-78G>A http://identifiers.org/clinvar/310804 ^@ NM_005888.3(SLC25A3):c.*94T>C http://identifiers.org/clinvar/304221 ^@ NM_000218.2(KCNQ1):c.1393+21526C>T http://identifiers.org/clinvar/310809 ^@ NM_005888.3(SLC25A3):c.*360delC http://identifiers.org/clinvar/305111 ^@ NM_004183.3(BEST1):c.-373T>A http://identifiers.org/clinvar/304230 ^@ NM_000218.2(KCNQ1):c.1973C>A (p.Thr658Asn) http://identifiers.org/clinvar/304233 ^@ NM_000218.2(KCNQ1):c.*47A>C http://identifiers.org/clinvar/304235 ^@ NM_000218.2(KCNQ1):c.*171G>A http://identifiers.org/clinvar/304236 ^@ NM_000218.2(KCNQ1):c.*219G>A http://identifiers.org/clinvar/321669 ^@ NM_017534.5(MYH2):c.4110C>T (p.Ala1370=) http://identifiers.org/clinvar/305117 ^@ NM_004183.3(BEST1):c.139C>T (p.Arg47Cys) http://identifiers.org/clinvar/321676 ^@ NM_017534.5(MYH2):c.3299T>C (p.Ile1100Thr) http://identifiers.org/clinvar/310810 ^@ NM_005888.3(SLC25A3):c.*411T>C http://identifiers.org/clinvar/310842 ^@ NM_000282.3(PCCA):c.231+15C>T http://identifiers.org/clinvar/304238 ^@ NM_000218.2(KCNQ1):c.*264T>C http://identifiers.org/clinvar/321677 ^@ NM_017534.5(MYH2):c.3263+12_3263+15delAGAA http://identifiers.org/clinvar/321678 ^@ NM_017534.5(MYH2):c.3128C>T (p.Ser1043Phe) http://identifiers.org/clinvar/304239 ^@ NM_000218.2(KCNQ1):c.*266G>A http://identifiers.org/clinvar/304254 ^@ NM_000218.2(KCNQ1):c.*633G>A http://identifiers.org/clinvar/321679 ^@ NM_017534.5(MYH2):c.2893C>T (p.Leu965=) http://identifiers.org/clinvar/305118 ^@ NM_004183.3(BEST1):c.152+6G>T http://identifiers.org/clinvar/305120 ^@ NM_004183.3(BEST1):c.351G>A (p.Lys117=) http://identifiers.org/clinvar/310851 ^@ NM_000282.3(PCCA):c.2172C>T (p.Leu724=) http://identifiers.org/clinvar/321681 ^@ NM_017534.5(MYH2):c.2655G>A (p.Thr885=) http://identifiers.org/clinvar/321682 ^@ NM_017534.5(MYH2):c.2654C>T (p.Thr885Met) http://identifiers.org/clinvar/310853 ^@ NM_000282.3(PCCA):c.*115C>T http://identifiers.org/clinvar/310858 ^@ NM_000282.3(PCCA):c.*190C>T http://identifiers.org/clinvar/304255 ^@ NM_000218.2(KCNQ1):c.*652G>A http://identifiers.org/clinvar/321683 ^@ NM_017534.5(MYH2):c.2626A>G (p.Arg876Gly) http://identifiers.org/clinvar/310859 ^@ NM_004115.3(FGF14):c.*1886_*1889dupGATT http://identifiers.org/clinvar/310864 ^@ NM_004115.3(FGF14):c.*1609_*1612delTTTG http://identifiers.org/clinvar/310867 ^@ NM_004115.3(FGF14):c.*1387_*1390dupTAAA http://identifiers.org/clinvar/304261 ^@ NM_000218.2(KCNQ1):c.*837G>A http://identifiers.org/clinvar/304270 ^@ NM_000218.2(KCNQ1):c.*1025G>C http://identifiers.org/clinvar/305128 ^@ NM_004183.3(BEST1):c.1330G>A (p.Ala444Thr) http://identifiers.org/clinvar/305129 ^@ NM_004183.3(BEST1):c.1457C>T (p.Pro486Leu) http://identifiers.org/clinvar/310870 ^@ NM_004115.3(FGF14):c.*1118G>A http://identifiers.org/clinvar/304275 ^@ NM_000510.2(FSHB):c.30C>G (p.Phe10Leu) http://identifiers.org/clinvar/304277 ^@ NM_000510.2(FSHB):c.327C>A (p.Ser109Arg) http://identifiers.org/clinvar/305130 ^@ NM_004183.3(BEST1):c.1519T>C (p.Ser507Pro) http://identifiers.org/clinvar/304278 ^@ NM_000510.2(FSHB):c.*212T>C http://identifiers.org/clinvar/305131 ^@ NM_004183.3(BEST1):c.1583A>G (p.Glu528Gly) http://identifiers.org/clinvar/305135 ^@ NG_008346.1:g.8323A>G http://identifiers.org/clinvar/321689 ^@ NM_017534.5(MYH2):c.1644C>A (p.Asp548Glu) http://identifiers.org/clinvar/321693 ^@ NM_017534.5(MYH2):c.1068G>A (p.Thr356=) http://identifiers.org/clinvar/310871 ^@ NM_004115.3(FGF14):c.*1072G>A http://identifiers.org/clinvar/321695 ^@ NM_017534.5(MYH2):c.579C>T (p.Ile193=) http://identifiers.org/clinvar/310872 ^@ NM_004115.3(FGF14):c.*1071C>T http://identifiers.org/clinvar/304279 ^@ NM_000510.2(FSHB):c.*303C>A http://identifiers.org/clinvar/304285 ^@ NM_000510.2(FSHB):c.*872C>T http://identifiers.org/clinvar/310873 ^@ NM_004115.3(FGF14):c.*1058_*1062dupTTAAC http://identifiers.org/clinvar/305136 ^@ NM_002032.2(FTH1):c.*385T>G http://identifiers.org/clinvar/310882 ^@ NM_004115.3(FGF14):c.*783C>G http://identifiers.org/clinvar/321697 ^@ NM_017534.5(MYH2):c.301G>C (p.Ala101Pro) http://identifiers.org/clinvar/321698 ^@ NM_017534.5(MYH2):c.205-3C>T http://identifiers.org/clinvar/310890 ^@ NM_004115.3(FGF14):c.*176C>G http://identifiers.org/clinvar/310897 ^@ NM_004115.3(FGF14):c.620G>A (p.Arg207Gln) http://identifiers.org/clinvar/310898 ^@ NM_004115.3(FGF14):c.608-10C>T http://identifiers.org/clinvar/304286 ^@ NM_000510.2(FSHB):c.*898T>C http://identifiers.org/clinvar/321704 ^@ NM_017534.5(MYH2):c.-64+13A>G http://identifiers.org/clinvar/321708 ^@ NM_002470.3(MYH3):c.5804T>C (p.Val1935Ala) http://identifiers.org/clinvar/321709 ^@ NM_002470.3(MYH3):c.5674G>A (p.Ala1892Thr) http://identifiers.org/clinvar/321712 ^@ NM_002470.3(MYH3):c.5607G>T (p.Val1869=) http://identifiers.org/clinvar/304287 ^@ NM_000510.2(FSHB):c.*948T>G http://identifiers.org/clinvar/304288 ^@ NM_000510.2(FSHB):c.*1009G>A http://identifiers.org/clinvar/310905 ^@ NM_000123.3(ERCC5):c.-241G>C http://identifiers.org/clinvar/321714 ^@ NM_002470.3(MYH3):c.5457+11dupG http://identifiers.org/clinvar/321718 ^@ NM_002470.3(MYH3):c.5286+6G>C http://identifiers.org/clinvar/310907 ^@ NM_000123.3(ERCC5):c.-156C>A http://identifiers.org/clinvar/310908 ^@ NM_000123.3(ERCC5):c.-126A>G http://identifiers.org/clinvar/305137 ^@ NG_008346.1:g.8253G>A http://identifiers.org/clinvar/310911 ^@ NM_000123.3(ERCC5):c.127C>T (p.Arg43Trp) http://identifiers.org/clinvar/304295 ^@ NM_000280.4(PAX6):c.*4370C>G http://identifiers.org/clinvar/310913 ^@ NM_000123.3(ERCC5):c.442C>T (p.Pro148Ser) http://identifiers.org/clinvar/321727 ^@ NM_002470.3(MYH3):c.4172+9C>T http://identifiers.org/clinvar/321730 ^@ NM_002470.3(MYH3):c.3883A>G (p.Lys1295Glu) http://identifiers.org/clinvar/321731 ^@ NM_002470.3(MYH3):c.3731C>T (p.Ala1244Val) http://identifiers.org/clinvar/321733 ^@ NM_002470.3(MYH3):c.3612T>C (p.Leu1204=) http://identifiers.org/clinvar/304297 ^@ NM_000280.4(PAX6):c.*4296G>C http://identifiers.org/clinvar/304306 ^@ NM_000280.4(PAX6):c.*3700_*3701delGT http://identifiers.org/clinvar/305141 ^@ NM_002032.2(FTH1):c.413A>T (p.Tyr138Phe) http://identifiers.org/clinvar/304307 ^@ NM_000280.4(PAX6):c.*3670C>T http://identifiers.org/clinvar/304310 ^@ NM_000280.4(PAX6):c.*3202G>A http://identifiers.org/clinvar/310920 ^@ NM_000123.3(ERCC5):c.1232C>T (p.Thr411Met) http://identifiers.org/clinvar/321734 ^@ NM_002470.3(MYH3):c.3609G>A (p.Glu1203=) http://identifiers.org/clinvar/321735 ^@ NM_002470.3(MYH3):c.3594G>A (p.Ala1198=) http://identifiers.org/clinvar/305146 ^@ NM_002032.2(FTH1):c.-2C>T http://identifiers.org/clinvar/305148 ^@ NM_002032.2(FTH1):c.-221G>A http://identifiers.org/clinvar/310923 ^@ NM_000123.3(ERCC5):c.1563A>G (p.Glu521=) http://identifiers.org/clinvar/304315 ^@ NM_000280.4(PAX6):c.*2906A>G http://identifiers.org/clinvar/321737 ^@ NM_002470.3(MYH3):c.3509C>A (p.Ala1170Glu) http://identifiers.org/clinvar/321738 ^@ NM_002470.3(MYH3):c.3479C>T (p.Thr1160Met) http://identifiers.org/clinvar/304317 ^@ NM_000280.4(PAX6):c.*2893_*2896dupATTT http://identifiers.org/clinvar/304318 ^@ NM_000280.4(PAX6):c.*2887delG http://identifiers.org/clinvar/310927 ^@ NM_000123.3(ERCC5):c.2100C>A (p.Leu700=) http://identifiers.org/clinvar/305155 ^@ NM_000327.3(ROM1):c.-438G>A http://identifiers.org/clinvar/321739 ^@ NM_002470.3(MYH3):c.3462G>A (p.Ala1154=) http://identifiers.org/clinvar/304321 ^@ NM_000280.4(PAX6):c.*2707C>T http://identifiers.org/clinvar/304326 ^@ NM_000280.4(PAX6):c.*2432A>G http://identifiers.org/clinvar/304334 ^@ NM_000280.4(PAX6):c.*2160G>A http://identifiers.org/clinvar/310928 ^@ NM_000123.3(ERCC5):c.2190T>C (p.Asp730=) http://identifiers.org/clinvar/310936 ^@ NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) http://identifiers.org/clinvar/305158 ^@ NM_000327.3(ROM1):c.-159delA http://identifiers.org/clinvar/321741 ^@ NM_002470.3(MYH3):c.3173G>A (p.Gly1058Glu) http://identifiers.org/clinvar/305162 ^@ NM_000327.3(ROM1):c.183C>A (p.Val61=) http://identifiers.org/clinvar/305165 ^@ NM_000327.3(ROM1):c.593G>A (p.Arg198Gln) http://identifiers.org/clinvar/321742 ^@ NM_002470.3(MYH3):c.3139G>A (p.Val1047Ile) http://identifiers.org/clinvar/305170 ^@ NM_000327.3(ROM1):c.*179A>C http://identifiers.org/clinvar/305172 ^@ NM_032667.6(BSCL2):c.*49T>G http://identifiers.org/clinvar/310944 ^@ NM_000123.3(ERCC5):c.3532C>T (p.Arg1178Cys) http://identifiers.org/clinvar/310947 ^@ NM_002312.3(LIG4):c.*1081C>T http://identifiers.org/clinvar/305174 ^@ NM_032667.6(BSCL2):c.862A>G (p.Ile288Val) http://identifiers.org/clinvar/305179 ^@ NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser) http://identifiers.org/clinvar/305181 ^@ NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr) http://identifiers.org/clinvar/305196 ^@ NM_000543.4(SMPD1):c.297C>G (p.Thr99=) http://identifiers.org/clinvar/305204 ^@ NM_000543.4(SMPD1):c.1340+12A>T http://identifiers.org/clinvar/304335 ^@ NM_000280.4(PAX6):c.*2159C>T http://identifiers.org/clinvar/304346 ^@ NM_000280.4(PAX6):c.*841C>T http://identifiers.org/clinvar/310962 ^@ NM_002312.3(LIG4):c.*285A>G http://identifiers.org/clinvar/321751 ^@ NM_002470.3(MYH3):c.1960-8dupT http://identifiers.org/clinvar/321759 ^@ NM_002470.3(MYH3):c.1521C>T (p.Ile507=) http://identifiers.org/clinvar/310973 ^@ NM_002312.3(LIG4):c.2569G>A (p.Ala857Thr) http://identifiers.org/clinvar/305206 ^@ NM_000543.4(SMPD1):c.1608G>A (p.Gln536=) http://identifiers.org/clinvar/321762 ^@ NM_002470.3(MYH3):c.1211G>C (p.Arg404Thr) http://identifiers.org/clinvar/310974 ^@ NM_002312.3(LIG4):c.2549C>T (p.Ala850Val) http://identifiers.org/clinvar/305215 ^@ NM_144585.3(SLC22A12):c.-556G>A http://identifiers.org/clinvar/310977 ^@ NM_002312.3(LIG4):c.2499T>C (p.Asn833=) http://identifiers.org/clinvar/321764 ^@ NM_002470.3(MYH3):c.1062G>A (p.Thr354=) http://identifiers.org/clinvar/321774 ^@ NM_002470.3(MYH3):c.166C>G (p.Gln56Glu) http://identifiers.org/clinvar/321775 ^@ NM_002470.3(MYH3):c.19A>G (p.Met7Val) http://identifiers.org/clinvar/321776 ^@ NM_002470.3(MYH3):c.-9+4A>T http://identifiers.org/clinvar/310987 ^@ NM_002312.3(LIG4):c.915T>C (p.Ser305=) http://identifiers.org/clinvar/305217 ^@ NM_144585.3(SLC22A12):c.-466C>G http://identifiers.org/clinvar/305225 ^@ NM_144585.3(SLC22A12):c.-220G>A http://identifiers.org/clinvar/304347 ^@ NM_000280.4(PAX6):c.*417C>T http://identifiers.org/clinvar/321791 ^@ NM_004589.3(SCO1):c.868A>G (p.Ile290Val) http://identifiers.org/clinvar/310989 ^@ NM_002312.3(LIG4):c.607A>G (p.Ile203Val) http://identifiers.org/clinvar/305230 ^@ NM_144585.3(SLC22A12):c.258C>T (p.His86=) http://identifiers.org/clinvar/304348 ^@ NM_000280.4(PAX6):c.*357A>T http://identifiers.org/clinvar/321798 ^@ NM_004589.3(SCO1):c.224C>T (p.Pro75Leu) http://identifiers.org/clinvar/310995 ^@ NM_002312.3(LIG4):c.13C>A (p.Gln5Lys) http://identifiers.org/clinvar/321800 ^@ NM_004589.3(SCO1):c.-49C>T http://identifiers.org/clinvar/310996 ^@ NM_002312.3(LIG4):c.-7C>T http://identifiers.org/clinvar/311001 ^@ NM_002312.3(LIG4):c.-260G>C http://identifiers.org/clinvar/321802 ^@ NM_001303.3(COX10):c.-170C>G http://identifiers.org/clinvar/305231 ^@ NM_144585.3(SLC22A12):c.327C>T (p.Ser109=) http://identifiers.org/clinvar/305235 ^@ NM_144585.3(SLC22A12):c.570T>C (p.Ala190=) http://identifiers.org/clinvar/304349 ^@ NM_000280.4(PAX6):c.*356delT http://identifiers.org/clinvar/304355 ^@ NM_000280.4(PAX6):c.*107G>C http://identifiers.org/clinvar/305245 ^@ NM_144585.3(SLC22A12):c.1329C>T (p.Gly443=) http://identifiers.org/clinvar/305248 ^@ NM_144585.3(SLC22A12):c.1572C>T (p.Pro524=) http://identifiers.org/clinvar/304356 ^@ NM_000280.4(PAX6):c.831G>A (p.Gln277=) http://identifiers.org/clinvar/311007 ^@ NM_001845.5(COL4A1):c.*887delA http://identifiers.org/clinvar/311008 ^@ NM_001845.5(COL4A1):c.*766G>A http://identifiers.org/clinvar/311010 ^@ NM_001845.5(COL4A1):c.*609T>C http://identifiers.org/clinvar/321804 ^@ NM_001303.3(COX10):c.-109G>A http://identifiers.org/clinvar/321810 ^@ NM_001303.3(COX10):c.64T>A (p.Trp22Arg) http://identifiers.org/clinvar/304358 ^@ NM_000280.4(PAX6):c.547G>C (p.Gly183Arg) http://identifiers.org/clinvar/304367 ^@ NM_000280.4(PAX6):c.-430G>C http://identifiers.org/clinvar/321814 ^@ NM_001303.3(COX10):c.543G>A (p.Pro181=) http://identifiers.org/clinvar/304372 ^@ NM_024426.4(WT1):c.*1209A>G http://identifiers.org/clinvar/304373 ^@ NM_024426.4(WT1):c.*1167T>G http://identifiers.org/clinvar/304383 ^@ NM_024426.4(WT1):c.*978dupA http://identifiers.org/clinvar/304392 ^@ NM_024426.4(WT1):c.*768A>C http://identifiers.org/clinvar/311012 ^@ NM_001845.5(COL4A1):c.*531T>A http://identifiers.org/clinvar/311013 ^@ NM_001845.5(COL4A1):c.*510A>G http://identifiers.org/clinvar/321817 ^@ NM_001303.3(COX10):c.929-9_929-7dupCCC http://identifiers.org/clinvar/311014 ^@ NM_001845.5(COL4A1):c.*477G>T http://identifiers.org/clinvar/311022 ^@ NM_001845.5(COL4A1):c.4442G>A (p.Arg1481Gln) http://identifiers.org/clinvar/311024 ^@ NM_001845.5(COL4A1):c.4271C>T (p.Pro1424Leu) http://identifiers.org/clinvar/311027 ^@ NM_001845.5(COL4A1):c.4150+3G>A http://identifiers.org/clinvar/304396 ^@ NM_024426.4(WT1):c.*666A>G http://identifiers.org/clinvar/311034 ^@ NM_001845.5(COL4A1):c.3877-8G>A http://identifiers.org/clinvar/305249 ^@ NM_144585.3(SLC22A12):c.1612G>A (p.Ala538Thr) http://identifiers.org/clinvar/304398 ^@ NM_024426.4(WT1):c.*611C>T http://identifiers.org/clinvar/304399 ^@ NM_024426.4(WT1):c.*602A>G http://identifiers.org/clinvar/311036 ^@ NM_001845.5(COL4A1):c.3634A>T (p.Met1212Leu) http://identifiers.org/clinvar/321822 ^@ NM_001303.3(COX10):c.*297G>A http://identifiers.org/clinvar/321825 ^@ NM_001303.3(COX10):c.*408G>A http://identifiers.org/clinvar/311037 ^@ NM_001845.5(COL4A1):c.3557-14T>C http://identifiers.org/clinvar/311040 ^@ NM_001845.5(COL4A1):c.3326-7dupT http://identifiers.org/clinvar/311042 ^@ NM_001845.5(COL4A1):c.3241A>G (p.Lys1081Glu) http://identifiers.org/clinvar/311048 ^@ NM_001845.5(COL4A1):c.2869+6T>C http://identifiers.org/clinvar/321840 ^@ NM_001303.3(COX10):c.*1101C>T http://identifiers.org/clinvar/305252 ^@ NM_144585.3(SLC22A12):c.*70G>A http://identifiers.org/clinvar/321844 ^@ NM_001303.3(COX10):c.*1459delC http://identifiers.org/clinvar/305253 ^@ NM_144585.3(SLC22A12):c.*254_*258dupGCCCT http://identifiers.org/clinvar/305259 ^@ NM_144585.3(SLC22A12):c.*616T>C http://identifiers.org/clinvar/304403 ^@ NM_024426.4(WT1):c.*513C>T http://identifiers.org/clinvar/321854 ^@ NM_000304.3(PMP22):c.*243C>T http://identifiers.org/clinvar/321863 ^@ NM_000304.3(PMP22):c.-34-5C>T http://identifiers.org/clinvar/321935 ^@ NM_017775.3(TTC19):c.-328C>T http://identifiers.org/clinvar/305264 ^@ NM_005609.3(PYGM):c.2412G>A (p.Arg804=) http://identifiers.org/clinvar/305266 ^@ NM_005609.3(PYGM):c.2389G>C (p.Glu797Gln) http://identifiers.org/clinvar/311050 ^@ NM_001845.5(COL4A1):c.2706G>A (p.Pro902=) http://identifiers.org/clinvar/304410 ^@ NM_024426.4(WT1):c.*267G>C http://identifiers.org/clinvar/321937 ^@ NM_017775.3(TTC19):c.-178C>T http://identifiers.org/clinvar/311059 ^@ NM_001845.5(COL4A1):c.2095+7C>G http://identifiers.org/clinvar/311064 ^@ NM_001845.5(COL4A1):c.1084+5C>G http://identifiers.org/clinvar/305267 ^@ NM_005609.3(PYGM):c.2311C>T (p.Arg771Trp) http://identifiers.org/clinvar/304411 ^@ NM_024426.4(WT1):c.*239G>A http://identifiers.org/clinvar/304414 ^@ NM_024426.4(WT1):c.*138G>A http://identifiers.org/clinvar/311068 ^@ NM_001845.5(COL4A1):c.958-9C>T http://identifiers.org/clinvar/321938 ^@ NM_017775.3(TTC19):c.-141G>A http://identifiers.org/clinvar/304420 ^@ NM_024426.4(WT1):c.1002-15T>C http://identifiers.org/clinvar/321941 ^@ NM_017775.3(TTC19):c.146C>T (p.Pro49Leu) http://identifiers.org/clinvar/304422 ^@ NM_024426.4(WT1):c.680G>C (p.Ser227Thr) http://identifiers.org/clinvar/305270 ^@ NM_005609.3(PYGM):c.2177+7G>A http://identifiers.org/clinvar/311070 ^@ NM_001845.5(COL4A1):c.808-7C>A http://identifiers.org/clinvar/311072 ^@ NM_001845.5(COL4A1):c.766A>G (p.Thr256Ala) http://identifiers.org/clinvar/311080 ^@ NM_001845.5(COL4A1):c.380G>T (p.Gly127Val) http://identifiers.org/clinvar/311084 ^@ NM_001845.5(COL4A1):c.-13C>G http://identifiers.org/clinvar/311090 ^@ NM_001846.3(COL4A2):c.-232C>G http://identifiers.org/clinvar/311091 ^@ NM_001846.3(COL4A2):c.-215C>T http://identifiers.org/clinvar/311102 ^@ NM_001846.3(COL4A2):c.468C>T (p.Thr156=) http://identifiers.org/clinvar/304423 ^@ NM_024426.4(WT1):c.572G>A (p.Gly191Asp) http://identifiers.org/clinvar/311104 ^@ NM_001846.3(COL4A2):c.549+15G>C http://identifiers.org/clinvar/311105 ^@ NM_001846.3(COL4A2):c.550-13T>C http://identifiers.org/clinvar/311107 ^@ NM_001846.3(COL4A2):c.576C>T (p.Val192=) http://identifiers.org/clinvar/304425 ^@ NM_024426.4(WT1):c.332C>T (p.Pro111Leu) http://identifiers.org/clinvar/321951 ^@ NM_017775.3(TTC19):c.*27G>A http://identifiers.org/clinvar/304426 ^@ NM_024426.4(WT1):c.270C>T (p.Gly90=) http://identifiers.org/clinvar/321960 ^@ NM_017775.3(TTC19):c.*676C>T http://identifiers.org/clinvar/311108 ^@ NM_001846.3(COL4A2):c.594C>T (p.Pro198=) http://identifiers.org/clinvar/311114 ^@ NM_001846.3(COL4A2):c.907C>T (p.Leu303=) http://identifiers.org/clinvar/305277 ^@ NM_005609.3(PYGM):c.877C>T (p.Arg293Trp) http://identifiers.org/clinvar/321963 ^@ NM_017775.3(TTC19):c.*753A>G http://identifiers.org/clinvar/305278 ^@ NM_005609.3(PYGM):c.752A>G (p.Asn251Ser) http://identifiers.org/clinvar/304431 ^@ NM_024426.4(WT1):c.-46G>T http://identifiers.org/clinvar/304456 ^@ NM_003477.2(PDHX):c.-129_-127delCGG http://identifiers.org/clinvar/321968 ^@ NM_017775.3(TTC19):c.*1194T>A http://identifiers.org/clinvar/321974 ^@ NM_017775.3(TTC19):c.*1317_*1324dupAAAAAAAA http://identifiers.org/clinvar/321973 ^@ NM_017775.3(TTC19):c.*1320_*1324dupAAAAA http://identifiers.org/clinvar/304460 ^@ NM_003477.2(PDHX):c.-7C>T http://identifiers.org/clinvar/304461 ^@ NM_003477.2(PDHX):c.47A>C (p.Tyr16Ser) http://identifiers.org/clinvar/321971 ^@ NM_017775.3(TTC19):c.*1324dupA http://identifiers.org/clinvar/321991 ^@ NM_004278.3(PIGL):c.*86A>G http://identifiers.org/clinvar/305283 ^@ NM_005609.3(PYGM):c.330C>T (p.Asp110=) http://identifiers.org/clinvar/305284 ^@ NM_005609.3(PYGM):c.256C>T (p.Leu86=) http://identifiers.org/clinvar/305285 ^@ NM_005609.3(PYGM):c.98A>G (p.Asn33Ser) http://identifiers.org/clinvar/321993 ^@ NM_004278.3(PIGL):c.*185A>C http://identifiers.org/clinvar/305287 ^@ NM_005609.3(PYGM):c.-23G>A http://identifiers.org/clinvar/321872 ^@ NM_006445.3(PRPF8):c.6801C>T (p.Phe2267=) http://identifiers.org/clinvar/311126 ^@ NM_001846.3(COL4A2):c.1375G>A (p.Ala459Thr) http://identifiers.org/clinvar/304464 ^@ NM_003477.2(PDHX):c.474G>A (p.Glu158=) http://identifiers.org/clinvar/311131 ^@ NM_001846.3(COL4A2):c.1706G>A (p.Gly569Glu) http://identifiers.org/clinvar/311136 ^@ NM_001846.3(COL4A2):c.1868T>A (p.Leu623Gln) http://identifiers.org/clinvar/311142 ^@ NM_001846.3(COL4A2):c.2039-3C>T http://identifiers.org/clinvar/304471 ^@ NM_003477.2(PDHX):c.702T>C (p.Thr234=) http://identifiers.org/clinvar/321873 ^@ NM_006445.3(PRPF8):c.6783G>A (p.Met2261Ile) http://identifiers.org/clinvar/321884 ^@ NM_006445.3(PRPF8):c.4639-13G>A http://identifiers.org/clinvar/304474 ^@ NM_003477.2(PDHX):c.*27A>C http://identifiers.org/clinvar/304476 ^@ NM_003477.2(PDHX):c.*123A>G http://identifiers.org/clinvar/305289 ^@ NM_005609.3(PYGM):c.-234C>T http://identifiers.org/clinvar/305293 ^@ NM_005609.3(PYGM):c.-724C>G http://identifiers.org/clinvar/304491 ^@ NM_000448.2(RAG1):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/304492 ^@ NM_000448.2(RAG1):c.37T>G (p.Ser13Ala) http://identifiers.org/clinvar/305295 ^@ NM_130799.2(MEN1):c.*794G>A http://identifiers.org/clinvar/311143 ^@ NM_001846.3(COL4A2):c.2048G>C (p.Gly683Ala) http://identifiers.org/clinvar/321885 ^@ NM_006445.3(PRPF8):c.4022+15A>G http://identifiers.org/clinvar/321895 ^@ NM_006445.3(PRPF8):c.3061-11T>G http://identifiers.org/clinvar/311153 ^@ NM_001846.3(COL4A2):c.2903-12A>G http://identifiers.org/clinvar/311160 ^@ NM_001846.3(COL4A2):c.3346+7A>G http://identifiers.org/clinvar/305296 ^@ NM_130799.2(MEN1):c.*570C>A http://identifiers.org/clinvar/305299 ^@ NM_130799.2(MEN1):c.*533C>T http://identifiers.org/clinvar/304500 ^@ NM_000448.2(RAG1):c.1077A>G (p.Pro359=) http://identifiers.org/clinvar/305307 ^@ NM_130799.2(MEN1):c.*307T>G http://identifiers.org/clinvar/304502 ^@ NM_000448.2(RAG1):c.2110A>G (p.Ile704Val) http://identifiers.org/clinvar/311165 ^@ NM_001846.3(COL4A2):c.3634+12C>T http://identifiers.org/clinvar/311168 ^@ NM_001846.3(COL4A2):c.3856C>T (p.Pro1286Ser) http://identifiers.org/clinvar/311169 ^@ NM_001846.3(COL4A2):c.3915T>C (p.Ala1305=) http://identifiers.org/clinvar/321897 ^@ NM_006445.3(PRPF8):c.2873-13T>C http://identifiers.org/clinvar/311174 ^@ NM_001846.3(COL4A2):c.4195G>A (p.Val1399Ile) http://identifiers.org/clinvar/305314 ^@ NM_130799.2(MEN1):c.327A>C (p.Glu109Asp) http://identifiers.org/clinvar/305315 ^@ NM_130799.2(MEN1):c.61C>A (p.Arg21Ser) http://identifiers.org/clinvar/305320 ^@ NM_130799.2(MEN1):c.-106T>C http://identifiers.org/clinvar/311176 ^@ NM_001846.3(COL4A2):c.4256T>C (p.Met1419Thr) http://identifiers.org/clinvar/311179 ^@ NM_001846.3(COL4A2):c.4456G>A (p.Val1486Ile) http://identifiers.org/clinvar/305324 ^@ NM_032193.3(RNASEH2C):c.*1917T>C http://identifiers.org/clinvar/311181 ^@ NM_001846.3(COL4A2):c.4561G>A (p.Glu1521Lys) http://identifiers.org/clinvar/311182 ^@ NM_001846.3(COL4A2):c.4578G>A (p.Ala1526=) http://identifiers.org/clinvar/304508 ^@ NM_000448.2(RAG1):c.2968G>A (p.Val990Ile) http://identifiers.org/clinvar/304510 ^@ NM_000448.2(RAG1):c.*238G>A http://identifiers.org/clinvar/304512 ^@ NM_000448.2(RAG1):c.*370G>T http://identifiers.org/clinvar/321900 ^@ NM_006445.3(PRPF8):c.2680-9G>A http://identifiers.org/clinvar/304513 ^@ NM_000448.2(RAG1):c.*386delT http://identifiers.org/clinvar/321902 ^@ NM_006445.3(PRPF8):c.2601C>T (p.Ile867=) http://identifiers.org/clinvar/304517 ^@ NM_000448.2(RAG1):c.*766A>G http://identifiers.org/clinvar/305325 ^@ NM_032193.3(RNASEH2C):c.*1831G>A http://identifiers.org/clinvar/321907 ^@ NM_006445.3(PRPF8):c.1869G>C (p.Lys623Asn) http://identifiers.org/clinvar/321912 ^@ NM_006445.3(PRPF8):c.1263C>T (p.Ala421=) http://identifiers.org/clinvar/321923 ^@ NM_006445.3(PRPF8):c.-15T>A http://identifiers.org/clinvar/304518 ^@ NM_000448.2(RAG1):c.*834dupA http://identifiers.org/clinvar/321926 ^@ NM_006445.3(PRPF8):c.-30T>C http://identifiers.org/clinvar/311184 ^@ NM_001846.3(COL4A2):c.4683C>T (p.Asn1561=) http://identifiers.org/clinvar/305329 ^@ NM_032193.3(RNASEH2C):c.*1768C>T http://identifiers.org/clinvar/322026 ^@ NM_012452.2(TNFRSF13B):c.592C>T (p.Arg198Cys) http://identifiers.org/clinvar/322027 ^@ NM_012452.2(TNFRSF13B):c.215G>A (p.Arg72His) http://identifiers.org/clinvar/311185 ^@ NM_001846.3(COL4A2):c.4731C>T (p.Pro1577=) http://identifiers.org/clinvar/322029 ^@ NM_012452.2(TNFRSF13B):c.204dupA (p.Leu69Thrfs) http://identifiers.org/clinvar/322028 ^@ NM_012452.2(TNFRSF13B):c.201G>C (p.Arg67Ser) http://identifiers.org/clinvar/304519 ^@ NM_000448.2(RAG1):c.*856C>A http://identifiers.org/clinvar/322031 ^@ NM_012452.2(TNFRSF13B):c.61+10C>T http://identifiers.org/clinvar/322036 ^@ NM_144997.5(FLCN):c.*1182dupA http://identifiers.org/clinvar/322039 ^@ NM_144997.5(FLCN):c.*967T>C http://identifiers.org/clinvar/304523 ^@ NM_000448.2(RAG1):c.*1366A>G http://identifiers.org/clinvar/304525 ^@ NM_000448.2(RAG1):c.*1611G>A http://identifiers.org/clinvar/305333 ^@ NM_032193.3(RNASEH2C):c.*1594G>A http://identifiers.org/clinvar/322040 ^@ NM_144997.5(FLCN):c.*956A>G http://identifiers.org/clinvar/322052 ^@ NM_144997.5(FLCN):c.*425G>A http://identifiers.org/clinvar/305334 ^@ NM_032193.3(RNASEH2C):c.*1527A>C http://identifiers.org/clinvar/305337 ^@ NM_032193.3(RNASEH2C):c.*1217G>C http://identifiers.org/clinvar/311190 ^@ NM_001846.3(COL4A2):c.4882-7T>C http://identifiers.org/clinvar/322053 ^@ NM_144997.5(FLCN):c.*393G>A http://identifiers.org/clinvar/311194 ^@ NM_001846.3(COL4A2):c.4985G>A (p.Arg1662His) http://identifiers.org/clinvar/305351 ^@ NM_032193.3(RNASEH2C):c.*440G>C http://identifiers.org/clinvar/304529 ^@ NM_000448.2(RAG1):c.*2246T>C http://identifiers.org/clinvar/322059 ^@ NM_144997.5(FLCN):c.*224G>A http://identifiers.org/clinvar/304534 ^@ NM_000448.2(RAG1):c.*2599A>C http://identifiers.org/clinvar/304537 ^@ NM_000448.2(RAG1):c.*3058A>G http://identifiers.org/clinvar/322060 ^@ NM_144997.5(FLCN):c.*178A>G http://identifiers.org/clinvar/304539 ^@ NM_000448.2(RAG1):c.*3156A>G http://identifiers.org/clinvar/311195 ^@ NM_001846.3(COL4A2):c.4987G>A (p.Gly1663Ser) http://identifiers.org/clinvar/322061 ^@ NM_144997.5(FLCN):c.1430G>A (p.Arg477Gln) http://identifiers.org/clinvar/322064 ^@ NM_144997.5(FLCN):c.1281C>G (p.Pro427=) http://identifiers.org/clinvar/304540 ^@ NM_000448.2(RAG1):c.*3184G>A http://identifiers.org/clinvar/304547 ^@ NM_000536.3(RAG2):c.*90T>G http://identifiers.org/clinvar/311197 ^@ NM_001846.3(COL4A2):c.5085C>T (p.Ala1695=) http://identifiers.org/clinvar/311200 ^@ NM_001846.3(COL4A2):c.*76T>C http://identifiers.org/clinvar/322065 ^@ NM_144997.5(FLCN):c.977C>T (p.Pro326Leu) http://identifiers.org/clinvar/304549 ^@ NM_000536.3(RAG2):c.*52T>A http://identifiers.org/clinvar/305357 ^@ NM_032193.3(RNASEH2C):c.*27C>G http://identifiers.org/clinvar/305360 ^@ NM_032193.3(RNASEH2C):c.468+5G>C http://identifiers.org/clinvar/311205 ^@ NM_001846.3(COL4A2):c.*417C>G http://identifiers.org/clinvar/311206 ^@ NM_001846.3(COL4A2):c.*450G>T http://identifiers.org/clinvar/311210 ^@ NM_001846.3(COL4A2):c.*563A>G http://identifiers.org/clinvar/305368 ^@ NM_032193.3(RNASEH2C):c.-27G>T http://identifiers.org/clinvar/304553 ^@ NM_000536.3(RAG2):c.909G>T (p.Glu303Asp) http://identifiers.org/clinvar/305370 ^@ NM_032193.3(RNASEH2C):c.-157C>A http://identifiers.org/clinvar/322066 ^@ NM_144997.5(FLCN):c.791C>T (p.Ala264Val) http://identifiers.org/clinvar/322076 ^@ NM_144997.5(FLCN):c.-93C>T http://identifiers.org/clinvar/322077 ^@ NM_144997.5(FLCN):c.-97C>T http://identifiers.org/clinvar/322080 ^@ NM_144997.5(FLCN):c.-143C>A http://identifiers.org/clinvar/321996 ^@ NM_002615.6(SERPINF1):c.-154C>T http://identifiers.org/clinvar/305371 ^@ NM_016938.4(EFEMP2):c.*403C>G http://identifiers.org/clinvar/305372 ^@ NM_016938.4(EFEMP2):c.*305C>T http://identifiers.org/clinvar/311213 ^@ NM_001846.3(COL4A2):c.*695T>C http://identifiers.org/clinvar/311215 ^@ NM_001846.3(COL4A2):c.*769G>A http://identifiers.org/clinvar/321997 ^@ NM_002615.6(SERPINF1):c.-86C>A http://identifiers.org/clinvar/304559 ^@ NM_000536.3(RAG2):c.63G>A (p.Leu21=) http://identifiers.org/clinvar/311217 ^@ NM_001846.3(COL4A2):c.*830T>C http://identifiers.org/clinvar/322001 ^@ NM_002615.6(SERPINF1):c.257C>T (p.Ala86Val) http://identifiers.org/clinvar/305377 ^@ NM_016938.4(EFEMP2):c.1188C>T (p.Ser396=) http://identifiers.org/clinvar/305385 ^@ NM_016938.4(EFEMP2):c.160G>T (p.Asp54Tyr) http://identifiers.org/clinvar/305388 ^@ NM_016938.4(EFEMP2):c.-58G>A http://identifiers.org/clinvar/304560 ^@ NM_000536.3(RAG2):c.14T>A (p.Met5Lys) http://identifiers.org/clinvar/305397 ^@ NM_001143985.1(BANF1):c.-297G>A http://identifiers.org/clinvar/311218 ^@ NM_000131.4(F7):c.-27C>T http://identifiers.org/clinvar/311219 ^@ NM_000131.4(F7):c.64+8C>T http://identifiers.org/clinvar/311228 ^@ NM_000131.4(F7):c.1054G>A (p.Ala352Thr) http://identifiers.org/clinvar/305400 ^@ NM_001143985.1(BANF1):c.-221T>G http://identifiers.org/clinvar/305404 ^@ NM_001143985.1(BANF1):c.-17+4T>G http://identifiers.org/clinvar/305422 ^@ NM_053054.3(CATSPER1):c.1884G>A (p.Thr628=) http://identifiers.org/clinvar/304565 ^@ NM_207122.1(EXT2):c.-307G>T http://identifiers.org/clinvar/304571 ^@ NM_207122.1(EXT2):c.8C>T (p.Ala3Val) http://identifiers.org/clinvar/311233 ^@ NM_000131.4(F7):c.*285G>A http://identifiers.org/clinvar/305430 ^@ NM_053054.3(CATSPER1):c.1445C>G (p.Ala482Gly) http://identifiers.org/clinvar/304579 ^@ NM_207122.1(EXT2):c.805C>T (p.Leu269=) http://identifiers.org/clinvar/305436 ^@ NM_053054.3(CATSPER1):c.1045T>G (p.Phe349Val) http://identifiers.org/clinvar/305438 ^@ NM_053054.3(CATSPER1):c.947G>A (p.Gly316Asp) http://identifiers.org/clinvar/305441 ^@ NM_053054.3(CATSPER1):c.761G>T (p.Gly254Val) http://identifiers.org/clinvar/311234 ^@ NM_000131.4(F7):c.*294A>C http://identifiers.org/clinvar/322008 ^@ NM_002615.6(SERPINF1):c.644-14A>T http://identifiers.org/clinvar/322017 ^@ NM_002615.6(SERPINF1):c.*87T>C http://identifiers.org/clinvar/311238 ^@ NM_000131.4(F7):c.*499G>A http://identifiers.org/clinvar/305443 ^@ NM_053054.3(CATSPER1):c.695A>T (p.His232Leu) http://identifiers.org/clinvar/311240 ^@ NM_000131.4(F7):c.*543A>G http://identifiers.org/clinvar/311242 ^@ NM_000131.4(F7):c.*582C>T http://identifiers.org/clinvar/305444 ^@ NM_053054.3(CATSPER1):c.688C>T (p.Arg230Cys) http://identifiers.org/clinvar/311246 ^@ NM_000131.4(F7):c.*639G>A http://identifiers.org/clinvar/311248 ^@ NM_000131.4(F7):c.*673A>G http://identifiers.org/clinvar/304580 ^@ NM_207122.1(EXT2):c.849C>T (p.Leu283=) http://identifiers.org/clinvar/304581 ^@ NM_207122.1(EXT2):c.860C>A (p.Thr287Asn) http://identifiers.org/clinvar/304588 ^@ NM_207122.1(EXT2):c.1208T>C (p.Ile403Thr) http://identifiers.org/clinvar/311249 ^@ NM_000131.4(F7):c.*709_*712delACAC http://identifiers.org/clinvar/311250 ^@ NM_000131.4(F7):c.*756_*770delGATGCACACACACCGinsCCA http://identifiers.org/clinvar/311258 ^@ NM_000131.4(F7):c.*1077delG http://identifiers.org/clinvar/311266 ^@ NM_000504.3(F10):c.-40C>T http://identifiers.org/clinvar/311267 ^@ NM_000504.3(F10):c.7C>T (p.Arg3Cys) http://identifiers.org/clinvar/322089 ^@ NM_145691.3(ATPAF2):c.*378A>T http://identifiers.org/clinvar/311269 ^@ NM_000504.3(F10):c.60C>T (p.Leu20=) http://identifiers.org/clinvar/305450 ^@ NM_053054.3(CATSPER1):c.144C>T (p.His48=) http://identifiers.org/clinvar/305454 ^@ NM_053054.3(CATSPER1):c.-25delT http://identifiers.org/clinvar/322092 ^@ NM_145691.3(ATPAF2):c.*165C>T http://identifiers.org/clinvar/322099 ^@ NM_145691.3(ATPAF2):c.-147G>A http://identifiers.org/clinvar/322107 ^@ NM_016239.3(MYO15A):c.-33G>C http://identifiers.org/clinvar/322114 ^@ NM_016239.3(MYO15A):c.894C>G (p.Pro298=) http://identifiers.org/clinvar/311270 ^@ NM_000504.3(F10):c.90G>C (p.Gln30His) http://identifiers.org/clinvar/311273 ^@ NM_000504.3(F10):c.396C>T (p.Asp132=) http://identifiers.org/clinvar/311276 ^@ NM_000504.3(F10):c.584C>G (p.Pro195Arg) http://identifiers.org/clinvar/304590 ^@ NM_207122.1(EXT2):c.1641C>T (p.Asp547=) http://identifiers.org/clinvar/322116 ^@ NM_016239.3(MYO15A):c.1162G>A (p.Gly388Arg) http://identifiers.org/clinvar/304592 ^@ NM_207122.1(EXT2):c.1806+11G>A http://identifiers.org/clinvar/305490 ^@ NM_000391.3(TPP1):c.*1588C>T http://identifiers.org/clinvar/304593 ^@ NM_207122.1(EXT2):c.1935+11C>G http://identifiers.org/clinvar/304594 ^@ NM_207122.1(EXT2):c.2034_2036delCAA (p.Asn678del) http://identifiers.org/clinvar/304605 ^@ NM_207122.1(EXT2):c.*795C>A http://identifiers.org/clinvar/311279 ^@ NM_000504.3(F10):c.878C>T (p.Thr293Met) http://identifiers.org/clinvar/311283 ^@ NM_021954.3(GJA3):c.*3393delA http://identifiers.org/clinvar/322117 ^@ NM_016239.3(MYO15A):c.1418T>G (p.Leu473Arg) http://identifiers.org/clinvar/311288 ^@ NM_021954.3(GJA3):c.*3108C>T http://identifiers.org/clinvar/322118 ^@ NM_016239.3(MYO15A):c.1450C>G (p.Gln484Glu) http://identifiers.org/clinvar/311298 ^@ NM_021954.3(GJA3):c.*2426C>A http://identifiers.org/clinvar/311304 ^@ NM_021954.3(GJA3):c.*1841C>T http://identifiers.org/clinvar/311308 ^@ NM_021954.3(GJA3):c.*1257G>A http://identifiers.org/clinvar/322125 ^@ NM_016239.3(MYO15A):c.2287C>T (p.Arg763Trp) http://identifiers.org/clinvar/311330 ^@ NM_021954.3(GJA3):c.*101G>A http://identifiers.org/clinvar/311331 ^@ NM_021954.3(GJA3):c.*47A>G http://identifiers.org/clinvar/305496 ^@ NM_000391.3(TPP1):c.*1216dupT http://identifiers.org/clinvar/304606 ^@ NM_207122.1(EXT2):c.*802A>G http://identifiers.org/clinvar/311332 ^@ NM_021954.3(GJA3):c.1234G>A (p.Gly412Arg) http://identifiers.org/clinvar/304613 ^@ NM_021926.3(ALX4):c.*3755_*3760delAAAAAA http://identifiers.org/clinvar/322128 ^@ NM_016239.3(MYO15A):c.3012A>G (p.Ser1004=) http://identifiers.org/clinvar/304616 ^@ NM_021926.3(ALX4):c.*3506T>A http://identifiers.org/clinvar/322129 ^@ NM_016239.3(MYO15A):c.3140C>A (p.Pro1047His) http://identifiers.org/clinvar/304620 ^@ NM_021926.3(ALX4):c.*3241C>G http://identifiers.org/clinvar/304629 ^@ NM_021926.3(ALX4):c.*2883C>A http://identifiers.org/clinvar/305503 ^@ NM_000391.3(TPP1):c.*312T>C http://identifiers.org/clinvar/322132 ^@ NM_016239.3(MYO15A):c.3652C>G (p.Gln1218Glu) http://identifiers.org/clinvar/322135 ^@ NM_016239.3(MYO15A):c.4038+6_4038+7insTG http://identifiers.org/clinvar/305513 ^@ NM_000391.3(TPP1):c.887-7_887-6delAA http://identifiers.org/clinvar/305514 ^@ NM_000391.3(TPP1):c.886+7C>T http://identifiers.org/clinvar/322139 ^@ NM_016239.3(MYO15A):c.4038+56_4038+61dupGTGTGT http://identifiers.org/clinvar/304634 ^@ NM_021926.3(ALX4):c.*2673T>A http://identifiers.org/clinvar/304639 ^@ NM_021926.3(ALX4):c.*2478T>C http://identifiers.org/clinvar/304644 ^@ NM_021926.3(ALX4):c.*2110A>G http://identifiers.org/clinvar/311338 ^@ NM_021954.3(GJA3):c.949G>C (p.Gly317Arg) http://identifiers.org/clinvar/322137 ^@ NM_016239.3(MYO15A):c.4038+60_4038+61dupGT http://identifiers.org/clinvar/311340 ^@ NM_021954.3(GJA3):c.862C>T (p.Pro288Ser) http://identifiers.org/clinvar/305515 ^@ NM_000391.3(TPP1):c.-21G>A http://identifiers.org/clinvar/304645 ^@ NM_021926.3(ALX4):c.*2071C>T http://identifiers.org/clinvar/304646 ^@ NM_021926.3(ALX4):c.*2030G>A http://identifiers.org/clinvar/304650 ^@ NM_021926.3(ALX4):c.*1713G>C http://identifiers.org/clinvar/322141 ^@ NM_016239.3(MYO15A):c.4142+12C>G http://identifiers.org/clinvar/322149 ^@ NM_016239.3(MYO15A):c.5224C>T (p.Leu1742Phe) http://identifiers.org/clinvar/311343 ^@ NM_021954.3(GJA3):c.720G>A (p.Pro240=) http://identifiers.org/clinvar/305461 ^@ NM_024649.4(BBS1):c.636C>T (p.Asp212=) http://identifiers.org/clinvar/311355 ^@ NM_004004.5(GJB2):c.*1197T>A http://identifiers.org/clinvar/322151 ^@ NM_016239.3(MYO15A):c.5649+13C>T http://identifiers.org/clinvar/304656 ^@ NM_021926.3(ALX4):c.*1463C>G http://identifiers.org/clinvar/311356 ^@ NM_004004.5(GJB2):c.*1152G>A http://identifiers.org/clinvar/305462 ^@ NM_024649.4(BBS1):c.830+12C>T http://identifiers.org/clinvar/322158 ^@ NM_016239.3(MYO15A):c.6863C>T (p.Ser2288Leu) http://identifiers.org/clinvar/311358 ^@ NM_004004.5(GJB2):c.*1033G>A http://identifiers.org/clinvar/311359 ^@ NM_004004.5(GJB2):c.*1016A>G http://identifiers.org/clinvar/305463 ^@ NM_024649.4(BBS1):c.877G>A (p.Val293Met) http://identifiers.org/clinvar/305467 ^@ NM_024649.4(BBS1):c.1138C>T (p.Arg380Trp) http://identifiers.org/clinvar/311362 ^@ NM_004004.5(GJB2):c.*800A>G http://identifiers.org/clinvar/311365 ^@ NM_004004.5(GJB2):c.*544T>C http://identifiers.org/clinvar/322160 ^@ NM_016239.3(MYO15A):c.7436A>G (p.Gln2479Arg) http://identifiers.org/clinvar/322162 ^@ NM_016239.3(MYO15A):c.7547C>T (p.Ala2516Val) http://identifiers.org/clinvar/311367 ^@ NM_004004.5(GJB2):c.*423C>T http://identifiers.org/clinvar/311375 ^@ NM_006783.4(GJB6):c.*559C>T http://identifiers.org/clinvar/311378 ^@ NM_006783.4(GJB6):c.*25C>T http://identifiers.org/clinvar/322163 ^@ NM_016239.3(MYO15A):c.7550C>G (p.Thr2517Ser) http://identifiers.org/clinvar/304661 ^@ NM_021926.3(ALX4):c.*1356T>C http://identifiers.org/clinvar/304664 ^@ NM_021926.3(ALX4):c.*1227G>A http://identifiers.org/clinvar/304671 ^@ NM_021926.3(ALX4):c.*1003C>A http://identifiers.org/clinvar/311380 ^@ NM_006783.4(GJB6):c.666A>G (p.Ser222=) http://identifiers.org/clinvar/311384 ^@ NM_006783.4(GJB6):c.-3G>A http://identifiers.org/clinvar/322164 ^@ NM_016239.3(MYO15A):c.7633G>T (p.Asp2545Tyr) http://identifiers.org/clinvar/311386 ^@ NM_006783.4(GJB6):c.-105T>A http://identifiers.org/clinvar/311390 ^@ NM_006783.4(GJB6):c.-178C>T http://identifiers.org/clinvar/322166 ^@ NM_016239.3(MYO15A):c.8050T>C (p.Tyr2684His) http://identifiers.org/clinvar/305473 ^@ NM_024649.4(BBS1):c.1744G>A (p.Val582Ile) http://identifiers.org/clinvar/322168 ^@ NM_016239.3(MYO15A):c.8148+15C>G http://identifiers.org/clinvar/305517 ^@ NM_006946.2(SPTBN2):c.*546T>C http://identifiers.org/clinvar/305518 ^@ NM_006946.2(SPTBN2):c.*364C>T http://identifiers.org/clinvar/322169 ^@ NM_016239.3(MYO15A):c.8225-13T>C http://identifiers.org/clinvar/305522 ^@ NM_006946.2(SPTBN2):c.*61G>A http://identifiers.org/clinvar/305523 ^@ NM_006946.2(SPTBN2):c.7020G>A (p.Pro2340=) http://identifiers.org/clinvar/311391 ^@ NM_006783.4(GJB6):c.-226A>C http://identifiers.org/clinvar/322171 ^@ NM_016239.3(MYO15A):c.8431G>A (p.Gly2811Arg) http://identifiers.org/clinvar/305526 ^@ NM_006946.2(SPTBN2):c.6797C>T (p.Ala2266Val) http://identifiers.org/clinvar/322172 ^@ NM_016239.3(MYO15A):c.8443G>A (p.Val2815Ile) http://identifiers.org/clinvar/304672 ^@ NM_021926.3(ALX4):c.*997C>G http://identifiers.org/clinvar/304680 ^@ NM_021926.3(ALX4):c.*899C>T http://identifiers.org/clinvar/311395 ^@ NM_006783.4(GJB6):c.-337G>A http://identifiers.org/clinvar/311398 ^@ NM_006783.4(GJB6):c.-419T>C http://identifiers.org/clinvar/311406 ^@ NM_002010.2(FGF9):c.-703C>T http://identifiers.org/clinvar/305532 ^@ NM_006946.2(SPTBN2):c.6669G>A (p.Gly2223=) http://identifiers.org/clinvar/322173 ^@ NM_016239.3(MYO15A):c.8816G>A (p.Arg2939His) http://identifiers.org/clinvar/322177 ^@ NM_016239.3(MYO15A):c.9602G>A (p.Arg3201Gln) http://identifiers.org/clinvar/305539 ^@ NM_006946.2(SPTBN2):c.6220A>C (p.Lys2074Gln) http://identifiers.org/clinvar/304691 ^@ NM_021926.3(ALX4):c.*290T>C http://identifiers.org/clinvar/322182 ^@ NM_016239.3(MYO15A):c.10128G>A (p.Thr3376=) http://identifiers.org/clinvar/304696 ^@ NM_021926.3(ALX4):c.*79G>A http://identifiers.org/clinvar/305541 ^@ NM_006946.2(SPTBN2):c.5950-9C>T http://identifiers.org/clinvar/304700 ^@ NM_021926.3(ALX4):c.1163G>A (p.Arg388His) http://identifiers.org/clinvar/322191 ^@ NM_016239.3(MYO15A):c.*612C>G http://identifiers.org/clinvar/322192 ^@ NM_016239.3(MYO15A):c.*628C>G http://identifiers.org/clinvar/311410 ^@ NM_002010.2(FGF9):c.-414C>T http://identifiers.org/clinvar/305548 ^@ NM_006946.2(SPTBN2):c.5248C>A (p.Arg1750Ser) http://identifiers.org/clinvar/305549 ^@ NM_006946.2(SPTBN2):c.5067C>A (p.Arg1689=) http://identifiers.org/clinvar/322194 ^@ NM_016239.3(MYO15A):c.*747T>C http://identifiers.org/clinvar/305559 ^@ NM_006946.2(SPTBN2):c.3972C>T (p.Ala1324=) http://identifiers.org/clinvar/305568 ^@ NM_006946.2(SPTBN2):c.3116G>A (p.Arg1039Gln) http://identifiers.org/clinvar/322195 ^@ NM_016239.3(MYO15A):c.*837T>G http://identifiers.org/clinvar/305574 ^@ NM_006946.2(SPTBN2):c.2445C>T (p.Pro815=) http://identifiers.org/clinvar/305575 ^@ NM_006946.2(SPTBN2):c.2412C>T (p.Asp804=) http://identifiers.org/clinvar/322196 ^@ NM_016239.3(MYO15A):c.*920G>A http://identifiers.org/clinvar/305576 ^@ NM_006946.2(SPTBN2):c.2162G>A (p.Arg721His) http://identifiers.org/clinvar/305588 ^@ NM_006946.2(SPTBN2):c.1351-7G>A http://identifiers.org/clinvar/305591 ^@ NM_006946.2(SPTBN2):c.1161C>T (p.Arg387=) http://identifiers.org/clinvar/304701 ^@ NM_021926.3(ALX4):c.1074C>T (p.His358=) http://identifiers.org/clinvar/304704 ^@ NM_021926.3(ALX4):c.729G>A (p.Ala243=) http://identifiers.org/clinvar/305594 ^@ NM_006946.2(SPTBN2):c.924G>C (p.Glu308Asp) http://identifiers.org/clinvar/305596 ^@ NM_006946.2(SPTBN2):c.657-7C>G http://identifiers.org/clinvar/305597 ^@ NM_006946.2(SPTBN2):c.476G>A (p.Arg159Gln) http://identifiers.org/clinvar/305598 ^@ NM_006946.2(SPTBN2):c.406A>G (p.Met136Val) http://identifiers.org/clinvar/311412 ^@ NM_002010.2(FGF9):c.-256G>A http://identifiers.org/clinvar/305601 ^@ NM_006946.2(SPTBN2):c.234G>A (p.Val78=) http://identifiers.org/clinvar/322200 ^@ NM_015681.4(B9D1):c.-70G>A http://identifiers.org/clinvar/305602 ^@ NM_006946.2(SPTBN2):c.207G>T (p.Ser69=) http://identifiers.org/clinvar/322203 ^@ NM_000382.2(ALDH3A2):c.-154G>A http://identifiers.org/clinvar/305603 ^@ NM_006946.2(SPTBN2):c.57C>T (p.Tyr19=) http://identifiers.org/clinvar/305605 ^@ NM_006946.2(SPTBN2):c.-22-10C>A http://identifiers.org/clinvar/311414 ^@ NM_002010.2(FGF9):c.-151G>T http://identifiers.org/clinvar/311420 ^@ NM_002010.2(FGF9):c.-37dupA http://identifiers.org/clinvar/311421 ^@ NM_002010.2(FGF9):c.278-14C>T http://identifiers.org/clinvar/322204 ^@ NM_000382.2(ALDH3A2):c.-149C>G http://identifiers.org/clinvar/304709 ^@ NM_021926.3(ALX4):c.561G>T (p.Val187=) http://identifiers.org/clinvar/305609 ^@ NM_000920.3(PC):c.*203T>C http://identifiers.org/clinvar/311423 ^@ NM_002010.2(FGF9):c.327C>T (p.Gly109=) http://identifiers.org/clinvar/322206 ^@ NM_000382.2(ALDH3A2):c.-3G>A http://identifiers.org/clinvar/305610 ^@ NM_000920.3(PC):c.*185G>A http://identifiers.org/clinvar/322210 ^@ NM_000382.2(ALDH3A2):c.563C>T (p.Ala188Val) http://identifiers.org/clinvar/311432 ^@ NM_002010.2(FGF9):c.*274_*279delATGTGT http://identifiers.org/clinvar/311437 ^@ NM_002010.2(FGF9):c.*304_*305delGT http://identifiers.org/clinvar/305618 ^@ NM_000920.3(PC):c.3198C>T (p.Ser1066=) http://identifiers.org/clinvar/322211 ^@ NM_000382.2(ALDH3A2):c.566T>C (p.Val189Ala) http://identifiers.org/clinvar/305622 ^@ NM_000920.3(PC):c.2224-15_2224-14delTC http://identifiers.org/clinvar/311438 ^@ NM_002010.2(FGF9):c.*306A>G http://identifiers.org/clinvar/311439 ^@ NM_002010.2(FGF9):c.*318G>A http://identifiers.org/clinvar/304710 ^@ NM_021926.3(ALX4):c.348G>T (p.Pro116=) http://identifiers.org/clinvar/305623 ^@ NM_000920.3(PC):c.1702A>G (p.Thr568Ala) http://identifiers.org/clinvar/322212 ^@ NM_000382.2(ALDH3A2):c.680G>A (p.Arg227Lys) http://identifiers.org/clinvar/304714 ^@ NM_021926.3(ALX4):c.188G>A (p.Arg63Gln) http://identifiers.org/clinvar/305627 ^@ NM_000920.3(PC):c.1233C>T (p.Ser411=) http://identifiers.org/clinvar/305628 ^@ NM_000920.3(PC):c.1167G>A (p.Pro389=) http://identifiers.org/clinvar/304729 ^@ NM_018389.4(SLC35C1):c.-393C>T http://identifiers.org/clinvar/322214 ^@ NM_000382.2(ALDH3A2):c.918T>C (p.Thr306=) http://identifiers.org/clinvar/322215 ^@ NM_000382.2(ALDH3A2):c.957C>T (p.Thr319=) http://identifiers.org/clinvar/322227 ^@ NM_000382.2(ALDH3A2):c.*669delA http://identifiers.org/clinvar/304730 ^@ NM_018389.4(SLC35C1):c.-312T>C http://identifiers.org/clinvar/304734 ^@ NM_018389.4(SLC35C1):c.-173C>T http://identifiers.org/clinvar/305629 ^@ NM_000920.3(PC):c.1023-14C>G http://identifiers.org/clinvar/322229 ^@ NM_000382.2(ALDH3A2):c.*700G>T http://identifiers.org/clinvar/322232 ^@ NM_000382.2(ALDH3A2):c.*1256C>G http://identifiers.org/clinvar/305640 ^@ NM_145200.3(CABP4):c.69G>A (p.Ala23=) http://identifiers.org/clinvar/305642 ^@ NM_145200.3(CABP4):c.242C>T (p.Ala81Val) http://identifiers.org/clinvar/311442 ^@ NM_002010.2(FGF9):c.*380C>G http://identifiers.org/clinvar/322240 ^@ NM_000382.2(ALDH3A2):c.*1879_*1880delCA http://identifiers.org/clinvar/311445 ^@ NM_002010.2(FGF9):c.*483_*486delCTTA http://identifiers.org/clinvar/305644 ^@ NM_145200.3(CABP4):c.309C>T (p.Ser103=) http://identifiers.org/clinvar/305647 ^@ NM_145200.3(CABP4):c.360C>T (p.Phe120=) http://identifiers.org/clinvar/304735 ^@ NM_018389.4(SLC35C1):c.-88T>G http://identifiers.org/clinvar/304738 ^@ NM_018389.4(SLC35C1):c.440G>A (p.Arg147His) http://identifiers.org/clinvar/305648 ^@ NM_145200.3(CABP4):c.367-8C>T http://identifiers.org/clinvar/305649 ^@ NM_145200.3(CABP4):c.398-8C>T http://identifiers.org/clinvar/305650 ^@ NM_145200.3(CABP4):c.432C>T (p.Asp144=) http://identifiers.org/clinvar/304741 ^@ NM_018389.4(SLC35C1):c.747C>T (p.Leu249=) http://identifiers.org/clinvar/304745 ^@ NM_018389.4(SLC35C1):c.1062C>T (p.Pro354=) http://identifiers.org/clinvar/305654 ^@ NM_145200.3(CABP4):c.541+7C>G http://identifiers.org/clinvar/305655 ^@ NM_145200.3(CABP4):c.541+8A>C http://identifiers.org/clinvar/305659 ^@ NM_145200.3(CABP4):c.652-11G>A http://identifiers.org/clinvar/311450 ^@ NM_002010.2(FGF9):c.*736C>T http://identifiers.org/clinvar/322243 ^@ NM_000382.2(ALDH3A2):c.*1971A>G http://identifiers.org/clinvar/311455 ^@ NM_002010.2(FGF9):c.*1266A>G http://identifiers.org/clinvar/322246 ^@ NM_000430.3(PAFAH1B1):c.-507G>C http://identifiers.org/clinvar/311463 ^@ NM_002010.2(FGF9):c.*1903C>T http://identifiers.org/clinvar/311471 ^@ NM_002010.2(FGF9):c.*2585C>T http://identifiers.org/clinvar/311473 ^@ NM_002010.2(FGF9):c.*2634C>T http://identifiers.org/clinvar/322250 ^@ NM_000430.3(PAFAH1B1):c.-335C>T http://identifiers.org/clinvar/311474 ^@ NM_002010.2(FGF9):c.*2787G>T http://identifiers.org/clinvar/311476 ^@ NM_000231.2(SGCG):c.-125A>G http://identifiers.org/clinvar/311483 ^@ NM_000231.2(SGCG):c.*136T>A http://identifiers.org/clinvar/305660 ^@ NM_145200.3(CABP4):c.799+15C>T http://identifiers.org/clinvar/304748 ^@ NM_018389.4(SLC35C1):c.*414G>A http://identifiers.org/clinvar/304750 ^@ NM_018389.4(SLC35C1):c.*542A>T http://identifiers.org/clinvar/304755 ^@ NM_018389.4(SLC35C1):c.*1074C>T http://identifiers.org/clinvar/305663 ^@ NM_145200.3(CABP4):c.*119T>G http://identifiers.org/clinvar/304758 ^@ NM_018389.4(SLC35C1):c.*1208G>A http://identifiers.org/clinvar/304761 ^@ NM_018389.4(SLC35C1):c.*1322A>G http://identifiers.org/clinvar/305666 ^@ NM_145200.3(CABP4):c.*324C>A http://identifiers.org/clinvar/322257 ^@ NM_000430.3(PAFAH1B1):c.-176delA http://identifiers.org/clinvar/304762 ^@ NM_018389.4(SLC35C1):c.*1373G>C http://identifiers.org/clinvar/311485 ^@ NM_000231.2(SGCG):c.*185G>A http://identifiers.org/clinvar/304764 ^@ NM_018389.4(SLC35C1):c.*1418C>A http://identifiers.org/clinvar/311486 ^@ NM_000231.2(SGCG):c.*295T>C http://identifiers.org/clinvar/304765 ^@ NM_018389.4(SLC35C1):c.*1426G>A http://identifiers.org/clinvar/304768 ^@ NM_018389.4(SLC35C1):c.*1580C>T http://identifiers.org/clinvar/304775 ^@ NM_004813.2(PEX16):c.*438C>T http://identifiers.org/clinvar/322260 ^@ NM_000430.3(PAFAH1B1):c.-62T>G http://identifiers.org/clinvar/322269 ^@ NM_000430.3(PAFAH1B1):c.*532G>A http://identifiers.org/clinvar/322271 ^@ NM_000430.3(PAFAH1B1):c.*686T>A http://identifiers.org/clinvar/305676 ^@ NM_145200.3(CABP4):c.*1285G>A http://identifiers.org/clinvar/322278 ^@ NM_000430.3(PAFAH1B1):c.*1053G>A http://identifiers.org/clinvar/304778 ^@ NM_004813.2(PEX16):c.*341C>T http://identifiers.org/clinvar/304784 ^@ NM_004813.2(PEX16):c.*107C>T http://identifiers.org/clinvar/305679 ^@ NM_145200.3(CABP4):c.*1435G>A http://identifiers.org/clinvar/305687 ^@ NM_145200.3(CABP4):c.*1856_*1857insCA http://identifiers.org/clinvar/304787 ^@ NM_004813.2(PEX16):c.918G>C (p.Leu306=) http://identifiers.org/clinvar/304789 ^@ NM_004813.2(PEX16):c.726G>A (p.Ser242=) http://identifiers.org/clinvar/322280 ^@ NM_000430.3(PAFAH1B1):c.*1121A>G http://identifiers.org/clinvar/304793 ^@ NM_004813.2(PEX16):c.609C>T (p.His203=) http://identifiers.org/clinvar/304803 ^@ NM_004813.2(PEX16):c.-290C>G http://identifiers.org/clinvar/304804 ^@ NM_004813.2(PEX16):c.-305C>T http://identifiers.org/clinvar/305688 ^@ NM_145200.3(CABP4):c.*1856_*1857insCACA http://identifiers.org/clinvar/305684 ^@ NM_145200.3(CABP4):c.*1857_*1858dupTA http://identifiers.org/clinvar/305696 ^@ NM_145200.3(CABP4):c.*1858_*1859insTACACA http://identifiers.org/clinvar/322289 ^@ NM_000430.3(PAFAH1B1):c.*1663G>A http://identifiers.org/clinvar/322292 ^@ NM_000430.3(PAFAH1B1):c.*1795A>G http://identifiers.org/clinvar/305692 ^@ NM_145200.3(CABP4):c.*1883_*1884dupCA http://identifiers.org/clinvar/305709 ^@ NM_145200.3(CABP4):c.*2313delG http://identifiers.org/clinvar/322295 ^@ NM_000430.3(PAFAH1B1):c.*1914A>T http://identifiers.org/clinvar/322310 ^@ NM_000430.3(PAFAH1B1):c.*2833C>T http://identifiers.org/clinvar/305713 ^@ NM_145200.3(CABP4):c.*2438G>A http://identifiers.org/clinvar/305715 ^@ NM_145200.3(CABP4):c.*2668G>A http://identifiers.org/clinvar/311487 ^@ NM_000231.2(SGCG):c.*478_*481dupAAGT http://identifiers.org/clinvar/311489 ^@ NM_014363.5(SACS):c.*1292A>T http://identifiers.org/clinvar/305718 ^@ NM_145200.3(CABP4):c.*3043C>T http://identifiers.org/clinvar/311490 ^@ NM_014363.5(SACS):c.*1200A>G http://identifiers.org/clinvar/322313 ^@ NM_000430.3(PAFAH1B1):c.*2891G>A http://identifiers.org/clinvar/305730 ^@ NM_003977.3(AIP):c.660C>T (p.Ser220=) http://identifiers.org/clinvar/322321 ^@ NM_000430.3(PAFAH1B1):c.*3187C>T http://identifiers.org/clinvar/322324 ^@ NM_000430.3(PAFAH1B1):c.*3331dupA http://identifiers.org/clinvar/322336 ^@ NM_080669.5(SLC46A1):c.*4780C>T http://identifiers.org/clinvar/311495 ^@ NM_014363.5(SACS):c.*484T>C http://identifiers.org/clinvar/311500 ^@ NM_014363.5(SACS):c.12700T>C (p.Tyr4234His) http://identifiers.org/clinvar/304810 ^@ NM_000506.4(F2):c.798C>T (p.Asp266=) http://identifiers.org/clinvar/322337 ^@ NM_080669.5(SLC46A1):c.*4742A>G http://identifiers.org/clinvar/311505 ^@ NM_014363.5(SACS):c.11792A>G (p.Lys3931Arg) http://identifiers.org/clinvar/304816 ^@ NM_000506.4(F2):c.1464G>A (p.Thr488=) http://identifiers.org/clinvar/304817 ^@ NM_000506.4(F2):c.1472+9C>T http://identifiers.org/clinvar/305733 ^@ NM_003977.3(AIP):c.906G>A (p.Val302=) http://identifiers.org/clinvar/311513 ^@ NM_014363.5(SACS):c.10064T>G (p.Ile3355Arg) http://identifiers.org/clinvar/322339 ^@ NM_080669.5(SLC46A1):c.*4661G>A http://identifiers.org/clinvar/304819 ^@ NM_000506.4(F2):c.1567C>T (p.Leu523=) http://identifiers.org/clinvar/311517 ^@ NM_014363.5(SACS):c.8577C>T (p.His2859=) http://identifiers.org/clinvar/311527 ^@ NM_014363.5(SACS):c.7165G>A (p.Val2389Met) http://identifiers.org/clinvar/305735 ^@ NM_003977.3(AIP):c.*60G>C http://identifiers.org/clinvar/305738 ^@ NM_007103.3(NDUFV1):c.-66G>A http://identifiers.org/clinvar/322341 ^@ NM_080669.5(SLC46A1):c.*4635dupT http://identifiers.org/clinvar/304824 ^@ NM_002334.3(LRP4):c.*2212C>T http://identifiers.org/clinvar/305745 ^@ NM_007103.3(NDUFV1):c.414G>T (p.Leu138=) http://identifiers.org/clinvar/305751 ^@ NM_007103.3(NDUFV1):c.904A>G (p.Lys302Glu) http://identifiers.org/clinvar/304836 ^@ NM_002334.3(LRP4):c.*734C>G http://identifiers.org/clinvar/305752 ^@ NM_007103.3(NDUFV1):c.1017C>T (p.Phe339=) http://identifiers.org/clinvar/304837 ^@ NM_002334.3(LRP4):c.*666delG http://identifiers.org/clinvar/322349 ^@ NM_080669.5(SLC46A1):c.*3913A>T http://identifiers.org/clinvar/322351 ^@ NM_080669.5(SLC46A1):c.*3785T>C http://identifiers.org/clinvar/304839 ^@ NM_002334.3(LRP4):c.*372G>A http://identifiers.org/clinvar/304843 ^@ NM_002334.3(LRP4):c.*44T>C http://identifiers.org/clinvar/311529 ^@ NM_014363.5(SACS):c.6754G>T (p.Asp2252Tyr) http://identifiers.org/clinvar/322352 ^@ NM_080669.5(SLC46A1):c.*3677C>G http://identifiers.org/clinvar/311534 ^@ NM_014363.5(SACS):c.6451T>G (p.Leu2151Val) http://identifiers.org/clinvar/311535 ^@ NM_014363.5(SACS):c.6069C>T (p.Asn2023=) http://identifiers.org/clinvar/305754 ^@ NM_007103.3(NDUFV1):c.1079C>T (p.Ser360Leu) http://identifiers.org/clinvar/311539 ^@ NM_014363.5(SACS):c.5841C>T (p.Pro1947=) http://identifiers.org/clinvar/304845 ^@ NM_002334.3(LRP4):c.5650A>G (p.Arg1884Gly) http://identifiers.org/clinvar/322355 ^@ NM_080669.5(SLC46A1):c.*3402A>G http://identifiers.org/clinvar/322357 ^@ NM_080669.5(SLC46A1):c.*3302A>G http://identifiers.org/clinvar/304846 ^@ NM_002334.3(LRP4):c.5520T>C (p.His1840=) http://identifiers.org/clinvar/304847 ^@ NM_002334.3(LRP4):c.5346C>G (p.Pro1782=) http://identifiers.org/clinvar/304873 ^@ NM_002334.3(LRP4):c.3064A>G (p.Asn1022Asp) http://identifiers.org/clinvar/322361 ^@ NM_080669.5(SLC46A1):c.*3062C>A http://identifiers.org/clinvar/305756 ^@ NM_007103.3(NDUFV1):c.1309-9C>T http://identifiers.org/clinvar/305764 ^@ NM_002496.3(NDUFS8):c.199+5G>A http://identifiers.org/clinvar/311545 ^@ NM_014363.5(SACS):c.4117G>C (p.Ala1373Pro) http://identifiers.org/clinvar/322369 ^@ NM_080669.5(SLC46A1):c.*2636C>A http://identifiers.org/clinvar/311551 ^@ NM_014363.5(SACS):c.3144A>G (p.Val1048=) http://identifiers.org/clinvar/305770 ^@ NM_002496.3(NDUFS8):c.502-13C>T http://identifiers.org/clinvar/305785 ^@ NM_006019.3(TCIRG1):c.476G>A (p.Gly159Glu) http://identifiers.org/clinvar/311553 ^@ NM_014363.5(SACS):c.2788A>G (p.Ile930Val) http://identifiers.org/clinvar/322372 ^@ NM_080669.5(SLC46A1):c.*2493A>G http://identifiers.org/clinvar/304875 ^@ NM_002334.3(LRP4):c.2958G>A (p.Leu986=) http://identifiers.org/clinvar/311556 ^@ NM_014363.5(SACS):c.2487C>T (p.Asp829=) http://identifiers.org/clinvar/322373 ^@ NM_080669.5(SLC46A1):c.*2401G>A http://identifiers.org/clinvar/322377 ^@ NM_080669.5(SLC46A1):c.*1981C>G http://identifiers.org/clinvar/311557 ^@ NM_014363.5(SACS):c.2110C>A (p.Leu704Ile) http://identifiers.org/clinvar/322379 ^@ NM_080669.5(SLC46A1):c.*1795C>T http://identifiers.org/clinvar/304880 ^@ NM_002334.3(LRP4):c.2318G>A (p.Arg773His) http://identifiers.org/clinvar/304881 ^@ NM_002334.3(LRP4):c.1922C>T (p.Pro641Leu) http://identifiers.org/clinvar/311560 ^@ NM_014363.5(SACS):c.1640C>T (p.Pro547Leu) http://identifiers.org/clinvar/322383 ^@ NM_080669.5(SLC46A1):c.*1627T>A http://identifiers.org/clinvar/311568 ^@ NM_014363.5(SACS):c.1066A>G (p.Ile356Val) http://identifiers.org/clinvar/322386 ^@ NM_080669.5(SLC46A1):c.*1332G>A http://identifiers.org/clinvar/311571 ^@ NM_014363.5(SACS):c.736C>G (p.Gln246Glu) http://identifiers.org/clinvar/322387 ^@ NM_080669.5(SLC46A1):c.*1243A>G http://identifiers.org/clinvar/322394 ^@ NM_080669.5(SLC46A1):c.*835A>G http://identifiers.org/clinvar/311577 ^@ NM_014363.5(SACS):c.-173C>A http://identifiers.org/clinvar/322399 ^@ NM_080669.5(SLC46A1):c.*129C>T http://identifiers.org/clinvar/322402 ^@ NM_080669.5(SLC46A1):c.*11C>T http://identifiers.org/clinvar/305791 ^@ NM_006019.3(TCIRG1):c.869C>T (p.Pro290Leu) http://identifiers.org/clinvar/304882 ^@ NM_002334.3(LRP4):c.1769G>A (p.Arg590His) http://identifiers.org/clinvar/304885 ^@ NM_002334.3(LRP4):c.1623T>C (p.Asp541=) http://identifiers.org/clinvar/305792 ^@ NM_006019.3(TCIRG1):c.904G>A (p.Val302Met) http://identifiers.org/clinvar/311592 ^@ NM_018451.4(CENPJ):c.*569A>G http://identifiers.org/clinvar/305793 ^@ NM_006019.3(TCIRG1):c.961G>C (p.Glu321Gln) http://identifiers.org/clinvar/305797 ^@ NM_006019.3(TCIRG1):c.1083C>G (p.Leu361=) http://identifiers.org/clinvar/305799 ^@ NM_006019.3(TCIRG1):c.1165+9C>T http://identifiers.org/clinvar/311593 ^@ NM_018451.4(CENPJ):c.*541T>C http://identifiers.org/clinvar/311594 ^@ NM_018451.4(CENPJ):c.*520A>G http://identifiers.org/clinvar/305807 ^@ NM_006019.3(TCIRG1):c.1540T>A (p.Phe514Ile) http://identifiers.org/clinvar/304893 ^@ NM_002334.3(LRP4):c.922+13G>A http://identifiers.org/clinvar/322405 ^@ NM_080669.5(SLC46A1):c.904A>C (p.Lys302Gln) http://identifiers.org/clinvar/305812 ^@ NM_006019.3(TCIRG1):c.1853A>G (p.His618Arg) http://identifiers.org/clinvar/322406 ^@ NM_080669.5(SLC46A1):c.752T>C (p.Ile251Thr) http://identifiers.org/clinvar/304894 ^@ NM_002334.3(LRP4):c.842G>T (p.Arg281Leu) http://identifiers.org/clinvar/304897 ^@ NM_002334.3(LRP4):c.750C>T (p.Cys250=) http://identifiers.org/clinvar/322407 ^@ NM_080669.5(SLC46A1):c.667A>T (p.Thr223Ser) http://identifiers.org/clinvar/304898 ^@ NM_002334.3(LRP4):c.734A>G (p.Asn245Ser) http://identifiers.org/clinvar/322414 ^@ NM_003593.2(FOXN1):c.205C>T (p.Arg69Cys) http://identifiers.org/clinvar/305816 ^@ NM_006019.3(TCIRG1):c.2121C>T (p.Leu707=) http://identifiers.org/clinvar/305826 ^@ NM_006019.3(TCIRG1):c.*68G>A http://identifiers.org/clinvar/322416 ^@ NM_003593.2(FOXN1):c.279C>G (p.Leu93=) http://identifiers.org/clinvar/311596 ^@ NM_018451.4(CENPJ):c.*406_*407delCT http://identifiers.org/clinvar/305830 ^@ NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) http://identifiers.org/clinvar/322421 ^@ NM_003593.2(FOXN1):c.589-12C>A http://identifiers.org/clinvar/305835 ^@ NM_002180.2(IGHMBP2):c.714T>C (p.Val238=) http://identifiers.org/clinvar/305838 ^@ NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn) http://identifiers.org/clinvar/322428 ^@ NM_003593.2(FOXN1):c.1184C>T (p.Pro395Leu) http://identifiers.org/clinvar/304902 ^@ NM_002334.3(LRP4):c.300G>A (p.Ser100=) http://identifiers.org/clinvar/304904 ^@ NM_002334.3(LRP4):c.172G>A (p.Gly58Arg) http://identifiers.org/clinvar/311597 ^@ NM_018451.4(CENPJ):c.*404C>T http://identifiers.org/clinvar/322440 ^@ NM_003593.2(FOXN1):c.*206G>A http://identifiers.org/clinvar/311601 ^@ NM_018451.4(CENPJ):c.*302delA http://identifiers.org/clinvar/311606 ^@ NM_018451.4(CENPJ):c.3960C>T (p.Ser1320=) http://identifiers.org/clinvar/322447 ^@ NM_003593.2(FOXN1):c.*496C>T http://identifiers.org/clinvar/305839 ^@ NM_002180.2(IGHMBP2):c.912+4G>A http://identifiers.org/clinvar/322457 ^@ NM_005148.3(UNC119):c.*83G>C http://identifiers.org/clinvar/305843 ^@ NM_002180.2(IGHMBP2):c.1194G>A (p.Ala398=) http://identifiers.org/clinvar/305845 ^@ NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) http://identifiers.org/clinvar/304905 ^@ NM_002334.3(LRP4):c.129C>G (p.Thr43=) http://identifiers.org/clinvar/304908 ^@ NM_002334.3(LRP4):c.-146G>A http://identifiers.org/clinvar/305849 ^@ NM_002180.2(IGHMBP2):c.2040G>A (p.Gln680=) http://identifiers.org/clinvar/311612 ^@ NM_018451.4(CENPJ):c.3003G>A (p.Gln1001=) http://identifiers.org/clinvar/311615 ^@ NM_018451.4(CENPJ):c.2826-6T>C http://identifiers.org/clinvar/305853 ^@ NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) http://identifiers.org/clinvar/305861 ^@ NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) http://identifiers.org/clinvar/322458 ^@ NM_005148.3(UNC119):c.*78C>T http://identifiers.org/clinvar/311616 ^@ NM_018451.4(CENPJ):c.2785A>G (p.Lys929Glu) http://identifiers.org/clinvar/305863 ^@ NM_002180.2(IGHMBP2):c.2856C>T (p.Ala952=) http://identifiers.org/clinvar/311617 ^@ NM_018451.4(CENPJ):c.2571C>G (p.Ser857Arg) http://identifiers.org/clinvar/311621 ^@ NM_018451.4(CENPJ):c.1934G>A (p.Arg645His) http://identifiers.org/clinvar/305869 ^@ NM_002180.2(IGHMBP2):c.*415G>A http://identifiers.org/clinvar/304909 ^@ NM_002334.3(LRP4):c.-188C>T http://identifiers.org/clinvar/322460 ^@ NM_005148.3(UNC119):c.663C>T (p.Phe221=) http://identifiers.org/clinvar/305871 ^@ NM_002180.2(IGHMBP2):c.*425G>A http://identifiers.org/clinvar/304911 ^@ NM_002334.3(LRP4):c.-237G>C http://identifiers.org/clinvar/322465 ^@ NM_005148.3(UNC119):c.437+7C>T http://identifiers.org/clinvar/305881 ^@ NM_012309.4(SHANK2):c.912+9015A>T http://identifiers.org/clinvar/311625 ^@ NM_018451.4(CENPJ):c.777G>T (p.Ala259=) http://identifiers.org/clinvar/322466 ^@ NM_005148.3(UNC119):c.321G>A (p.Lys107=) http://identifiers.org/clinvar/311626 ^@ NM_018451.4(CENPJ):c.739A>G (p.Thr247Ala) http://identifiers.org/clinvar/305882 ^@ NM_012309.4(SHANK2):c.912+8740C>G http://identifiers.org/clinvar/311630 ^@ NM_018451.4(CENPJ):c.504A>G (p.Leu168=) http://identifiers.org/clinvar/311633 ^@ NM_018451.4(CENPJ):c.195C>T (p.Phe65=) http://identifiers.org/clinvar/311637 ^@ NM_015972.3(POLR1D):c.-177C>T http://identifiers.org/clinvar/311639 ^@ NM_015972.3(POLR1D):c.-161G>T http://identifiers.org/clinvar/304922 ^@ NM_000107.2(DDB2):c.914C>A (p.Thr305Asn) http://identifiers.org/clinvar/311643 ^@ NM_015972.3(POLR1D):c.-110C>A http://identifiers.org/clinvar/311649 ^@ NM_015972.3(POLR1D):c.124T>C (p.Phe42Leu) http://identifiers.org/clinvar/305884 ^@ NM_012309.4(SHANK2):c.912+8585C>G http://identifiers.org/clinvar/311653 ^@ NM_015972.3(POLR1D):c.*30C>A http://identifiers.org/clinvar/322473 ^@ NM_005148.3(UNC119):c.-38C>T http://identifiers.org/clinvar/322476 ^@ NM_178170.2(NEK8):c.582C>T (p.Tyr194=) http://identifiers.org/clinvar/304927 ^@ NM_000107.2(DDB2):c.1070C>T (p.Pro357Leu) http://identifiers.org/clinvar/304930 ^@ NM_000107.2(DDB2):c.*77C>T http://identifiers.org/clinvar/305896 ^@ NM_012309.4(SHANK2):c.912+4231G>A http://identifiers.org/clinvar/322482 ^@ NM_178170.2(NEK8):c.1179C>G (p.Ile393Met) http://identifiers.org/clinvar/305899 ^@ NM_012309.4(SHANK2):c.912+3316C>T http://identifiers.org/clinvar/311655 ^@ NM_015972.3(POLR1D):c.*91A>G http://identifiers.org/clinvar/305900 ^@ NM_012309.4(SHANK2):c.912+3227G>A http://identifiers.org/clinvar/322484 ^@ NM_178170.2(NEK8):c.1641C>T (p.Ala547=) http://identifiers.org/clinvar/322487 ^@ NM_178170.2(NEK8):c.2048G>A (p.Arg683Gln) http://identifiers.org/clinvar/305902 ^@ NM_012309.4(SHANK2):c.912+1134C>T http://identifiers.org/clinvar/305904 ^@ NM_012309.4(SHANK2):c.912+598G>A http://identifiers.org/clinvar/311656 ^@ NM_015972.3(POLR1D):c.*112C>T http://identifiers.org/clinvar/322490 ^@ NM_178170.2(NEK8):c.*328C>T http://identifiers.org/clinvar/311668 ^@ NM_000059.3(BRCA2):c.*360dupC http://identifiers.org/clinvar/311669 ^@ NM_000059.3(BRCA2):c.*382A>G http://identifiers.org/clinvar/311673 ^@ NM_000059.3(BRCA2):c.*675C>A http://identifiers.org/clinvar/322500 ^@ NM_178170.2(NEK8):c.*578A>C http://identifiers.org/clinvar/311676 ^@ NM_000059.3(BRCA2):c.*839T>C http://identifiers.org/clinvar/322502 ^@ NM_178170.2(NEK8):c.*763A>G http://identifiers.org/clinvar/304933 ^@ NM_000107.2(DDB2):c.*334_*335delAC http://identifiers.org/clinvar/322505 ^@ NM_001045.5(SLC6A4):c.*2091delA http://identifiers.org/clinvar/311677 ^@ NM_000059.3(BRCA2):c.*854T>C http://identifiers.org/clinvar/322504 ^@ NM_001045.5(SLC6A4):c.*2091dupA http://identifiers.org/clinvar/322509 ^@ NM_001045.5(SLC6A4):c.*1748C>A http://identifiers.org/clinvar/305909 ^@ NM_012309.4(SHANK2):c.745-15A>G http://identifiers.org/clinvar/322518 ^@ NM_001045.5(SLC6A4):c.*670T>G http://identifiers.org/clinvar/322524 ^@ NM_001045.5(SLC6A4):c.*433G>A http://identifiers.org/clinvar/322530 ^@ NM_001045.5(SLC6A4):c.1782T>C (p.Ala594=) http://identifiers.org/clinvar/305910 ^@ NM_012309.4(SHANK2):c.744+8C>T http://identifiers.org/clinvar/305912 ^@ NM_012309.4(SHANK2):c.625G>A (p.Asp209Asn) http://identifiers.org/clinvar/305917 ^@ NM_012309.4(SHANK2):c.483+14G>A http://identifiers.org/clinvar/311681 ^@ NM_004795.3(KL):c.320C>T (p.Ala107Val) http://identifiers.org/clinvar/311682 ^@ NM_004795.3(KL):c.327G>C (p.Leu109=) http://identifiers.org/clinvar/311688 ^@ NM_004795.3(KL):c.956C>T (p.Ser319Phe) http://identifiers.org/clinvar/322531 ^@ NM_001045.5(SLC6A4):c.1572C>T (p.Asp524=) http://identifiers.org/clinvar/305927 ^@ NM_012309.4(SHANK2):c.168G>A (p.Thr56=) http://identifiers.org/clinvar/322536 ^@ NM_001045.5(SLC6A4):c.847G>T (p.Val283Leu) http://identifiers.org/clinvar/322537 ^@ NM_001045.5(SLC6A4):c.698+11G>A http://identifiers.org/clinvar/305938 ^@ NM_001360.2(DHCR7):c.*681T>C http://identifiers.org/clinvar/305939 ^@ NM_001360.2(DHCR7):c.*644G>A http://identifiers.org/clinvar/311693 ^@ NM_004795.3(KL):c.1331-3C>A http://identifiers.org/clinvar/322544 ^@ NM_001045.5(SLC6A4):c.-170G>A http://identifiers.org/clinvar/311703 ^@ NM_004795.3(KL):c.2557C>T (p.Arg853Cys) http://identifiers.org/clinvar/305942 ^@ NM_001360.2(DHCR7):c.*451A>G http://identifiers.org/clinvar/311715 ^@ NM_004795.3(KL):c.*407T>C http://identifiers.org/clinvar/305951 ^@ NM_001360.2(DHCR7):c.1389C>T (p.Thr463=) http://identifiers.org/clinvar/305955 ^@ NM_001360.2(DHCR7):c.1083C>A (p.Phe361Leu) http://identifiers.org/clinvar/322546 ^@ NM_001045.5(SLC6A4):c.-185C>A http://identifiers.org/clinvar/305957 ^@ NM_001360.2(DHCR7):c.570C>T (p.Ala190=) http://identifiers.org/clinvar/305960 ^@ NM_001360.2(DHCR7):c.99-5C>T http://identifiers.org/clinvar/322549 ^@ NM_001045.5(SLC6A4):c.-348A>G http://identifiers.org/clinvar/322562 ^@ NM_000267.3(NF1):c.-148C>A http://identifiers.org/clinvar/322564 ^@ NM_000267.3(NF1):c.-84C>T http://identifiers.org/clinvar/305963 ^@ NM_001360.2(DHCR7):c.-34T>G http://identifiers.org/clinvar/322567 ^@ NM_000267.3(NF1):c.205-13T>A http://identifiers.org/clinvar/322570 ^@ NM_001042492.2(NF1):c.1649T>C (p.Leu550Pro) http://identifiers.org/clinvar/311716 ^@ NM_004795.3(KL):c.*510C>T http://identifiers.org/clinvar/311717 ^@ NM_004795.3(KL):c.*543G>A http://identifiers.org/clinvar/322574 ^@ NM_000267.3(NF1):c.4467A>G (p.Leu1489=) http://identifiers.org/clinvar/311721 ^@ NM_004795.3(KL):c.*934T>A http://identifiers.org/clinvar/305965 ^@ NM_001360.2(DHCR7):c.-132+3G>A http://identifiers.org/clinvar/304940 ^@ NM_000256.3(MYBPC3):c.*127G>A http://identifiers.org/clinvar/305966 ^@ NM_001360.2(DHCR7):c.-192C>T http://identifiers.org/clinvar/311730 ^@ NM_004795.3(KL):c.*1619T>C http://identifiers.org/clinvar/311732 ^@ NM_004795.3(KL):c.*1728A>G http://identifiers.org/clinvar/304954 ^@ NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val) http://identifiers.org/clinvar/304955 ^@ NM_000256.3(MYBPC3):c.2603-4C>A http://identifiers.org/clinvar/305967 ^@ NM_001360.2(DHCR7):c.-195G>T http://identifiers.org/clinvar/311736 ^@ NM_015087.4(SPG20):c.*2454A>T http://identifiers.org/clinvar/311737 ^@ NM_015087.4(SPG20):c.*2343T>C http://identifiers.org/clinvar/305969 ^@ NM_001360.2(DHCR7):c.-225C>T http://identifiers.org/clinvar/304957 ^@ NM_000256.3(MYBPC3):c.1458-9C>T http://identifiers.org/clinvar/304959 ^@ NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) http://identifiers.org/clinvar/304962 ^@ NM_000256.3(MYBPC3):c.768C>A (p.Val256=) http://identifiers.org/clinvar/304963 ^@ NM_000256.3(MYBPC3):c.-5T>G http://identifiers.org/clinvar/322576 ^@ NM_000267.3(NF1):c.6944C>A (p.Ala2315Glu) http://identifiers.org/clinvar/322578 ^@ NM_000267.3(NF1):c.*125delC http://identifiers.org/clinvar/322583 ^@ NM_000267.3(NF1):c.*873_*874delAT http://identifiers.org/clinvar/322590 ^@ NM_000267.3(NF1):c.*1425C>T http://identifiers.org/clinvar/322592 ^@ NM_000267.3(NF1):c.*1899A>G http://identifiers.org/clinvar/322595 ^@ NM_000267.3(NF1):c.*2089G>A http://identifiers.org/clinvar/305970 ^@ NM_001360.2(DHCR7):c.-225C>G http://identifiers.org/clinvar/305971 ^@ NM_001145308.4(LRTOMT):c.-816C>T http://identifiers.org/clinvar/322599 ^@ NM_000267.3(NF1):c.*2265C>G http://identifiers.org/clinvar/305973 ^@ NM_001145308.4(LRTOMT):c.-743G>A http://identifiers.org/clinvar/322601 ^@ NM_000267.3(NF1):c.*2638_*2646delGATAATCTAinsTTATG http://identifiers.org/clinvar/304965 ^@ NM_005055.4(RAPSN):c.*211G>A http://identifiers.org/clinvar/304966 ^@ NM_005055.4(RAPSN):c.*207C>A http://identifiers.org/clinvar/322667 ^@ NM_000049.2(ASPA):c.807G>A (p.Thr269=) http://identifiers.org/clinvar/304967 ^@ NM_005055.4(RAPSN):c.*80G>C http://identifiers.org/clinvar/304969 ^@ NM_005055.4(RAPSN):c.*16G>A http://identifiers.org/clinvar/311765 ^@ NM_015087.4(SPG20):c.1745A>T (p.Asn582Ile) http://identifiers.org/clinvar/322669 ^@ NM_000049.2(ASPA):c.906G>A (p.Thr302=) http://identifiers.org/clinvar/305976 ^@ NM_001145308.4(LRTOMT):c.-554G>A http://identifiers.org/clinvar/322610 ^@ NM_002878.3(RAD51D):c.*1082C>T http://identifiers.org/clinvar/322618 ^@ NM_002878.3(RAD51D):c.*366C>T http://identifiers.org/clinvar/305977 ^@ NM_001145308.4(LRTOMT):c.-526T>A http://identifiers.org/clinvar/322619 ^@ NM_002878.3(RAD51D):c.*254T>G http://identifiers.org/clinvar/311766 ^@ NM_015087.4(SPG20):c.1470C>T (p.Val490=) http://identifiers.org/clinvar/311768 ^@ NM_015087.4(SPG20):c.852G>A (p.Pro284=) http://identifiers.org/clinvar/305995 ^@ NM_001145308.4(LRTOMT):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/322620 ^@ NM_002878.3(RAD51D):c.*154T>A http://identifiers.org/clinvar/306004 ^@ NM_001145308.4(LRTOMT):c.*255G>A http://identifiers.org/clinvar/304972 ^@ NM_005055.4(RAPSN):c.928G>A (p.Glu310Lys) http://identifiers.org/clinvar/304975 ^@ NM_005055.4(RAPSN):c.706G>A (p.Ala236Thr) http://identifiers.org/clinvar/304978 ^@ NM_005055.4(RAPSN):c.492C>T (p.Arg164=) http://identifiers.org/clinvar/306019 ^@ NM_001145308.4(LRTOMT):c.*1773C>T http://identifiers.org/clinvar/311775 ^@ NM_015087.4(SPG20):c.-247_-246delTG http://identifiers.org/clinvar/311777 ^@ NM_015087.4(SPG20):c.-261T>G http://identifiers.org/clinvar/306026 ^@ NM_016724.2(FOLR1):c.*26_*42del17insG http://identifiers.org/clinvar/322621 ^@ NM_002878.3(RAD51D):c.*130A>C http://identifiers.org/clinvar/306030 ^@ NM_005472.4(KCNE3):c.*2340A>T http://identifiers.org/clinvar/306032 ^@ NM_005472.4(KCNE3):c.*2208G>C http://identifiers.org/clinvar/306038 ^@ NM_005472.4(KCNE3):c.*1629T>C http://identifiers.org/clinvar/304980 ^@ NM_005055.4(RAPSN):c.412G>A (p.Val138Ile) http://identifiers.org/clinvar/304984 ^@ NM_005055.4(RAPSN):c.-73_-72insAT http://identifiers.org/clinvar/306039 ^@ NM_005472.4(KCNE3):c.*1521dupA http://identifiers.org/clinvar/304989 ^@ NM_005055.4(RAPSN):c.-190A>G http://identifiers.org/clinvar/311787 ^@ NM_000538.3(RFXAP):c.410T>C (p.Met137Thr) http://identifiers.org/clinvar/322624 ^@ NM_002878.3(RAD51D):c.929A>C (p.Asp310Ala) http://identifiers.org/clinvar/311788 ^@ NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) http://identifiers.org/clinvar/322672 ^@ NM_145068.3(TRPV3):c.*3340C>G http://identifiers.org/clinvar/304993 ^@ NM_004551.2(NDUFS3):c.91T>C (p.Leu31=) http://identifiers.org/clinvar/304998 ^@ NM_004551.2(NDUFS3):c.753T>G (p.Ser251Arg) http://identifiers.org/clinvar/306040 ^@ NM_005472.4(KCNE3):c.*1515dupA http://identifiers.org/clinvar/306045 ^@ NM_005472.4(KCNE3):c.*1438T>C http://identifiers.org/clinvar/311796 ^@ NM_000538.3(RFXAP):c.*472C>T http://identifiers.org/clinvar/305001 ^@ NM_000518.4(HBB):c.*53C>A http://identifiers.org/clinvar/322677 ^@ NM_145068.3(TRPV3):c.*3196T>C http://identifiers.org/clinvar/322680 ^@ NM_145068.3(TRPV3):c.*3148G>A http://identifiers.org/clinvar/322681 ^@ NM_145068.3(TRPV3):c.*3076A>C http://identifiers.org/clinvar/322686 ^@ NM_145068.3(TRPV3):c.*2783G>A http://identifiers.org/clinvar/311802 ^@ NM_000538.3(RFXAP):c.*1253G>A http://identifiers.org/clinvar/311804 ^@ NM_000538.3(RFXAP):c.*1431_*1432delGT http://identifiers.org/clinvar/305002 ^@ NM_000519.3(HBD):c.*91G>A http://identifiers.org/clinvar/322687 ^@ NM_145068.3(TRPV3):c.*2729A>G http://identifiers.org/clinvar/306051 ^@ NM_005472.4(KCNE3):c.*1305G>A http://identifiers.org/clinvar/322689 ^@ NM_145068.3(TRPV3):c.*2622G>T http://identifiers.org/clinvar/322695 ^@ NM_145068.3(TRPV3):c.*2296T>C http://identifiers.org/clinvar/322697 ^@ NM_145068.3(TRPV3):c.*2169C>A http://identifiers.org/clinvar/306056 ^@ NM_005472.4(KCNE3):c.*1073A>T http://identifiers.org/clinvar/306059 ^@ NM_005472.4(KCNE3):c.*996G>A http://identifiers.org/clinvar/311805 ^@ NM_000538.3(RFXAP):c.*1663G>A http://identifiers.org/clinvar/322698 ^@ NM_145068.3(TRPV3):c.*2153A>G http://identifiers.org/clinvar/322707 ^@ NM_145068.3(TRPV3):c.*2014A>T http://identifiers.org/clinvar/311807 ^@ NM_001127217.2(SMAD9):c.*3835C>A http://identifiers.org/clinvar/311835 ^@ NM_001127217.2(SMAD9):c.*2653C>T http://identifiers.org/clinvar/311842 ^@ NM_001127217.2(SMAD9):c.*2333A>G http://identifiers.org/clinvar/322715 ^@ NM_145068.3(TRPV3):c.*1591delG http://identifiers.org/clinvar/311843 ^@ NM_001127217.2(SMAD9):c.*2276C>T http://identifiers.org/clinvar/311848 ^@ NM_001127217.2(SMAD9):c.*2179_*2180delCT http://identifiers.org/clinvar/306061 ^@ NM_005472.4(KCNE3):c.*923_*924insTTT http://identifiers.org/clinvar/322718 ^@ NM_145068.3(TRPV3):c.*1590T>C http://identifiers.org/clinvar/322717 ^@ NM_145068.3(TRPV3):c.*1590delT http://identifiers.org/clinvar/305007 ^@ NM_000519.3(HBD):c.-62C>T http://identifiers.org/clinvar/306062 ^@ NM_005472.4(KCNE3):c.*920_*922dupTTT http://identifiers.org/clinvar/306066 ^@ NM_005472.4(KCNE3):c.*888A>G http://identifiers.org/clinvar/311853 ^@ NM_001127217.2(SMAD9):c.*1921C>T http://identifiers.org/clinvar/311857 ^@ NM_001127217.2(SMAD9):c.*1430A>T http://identifiers.org/clinvar/311859 ^@ NM_001127217.2(SMAD9):c.*1322G>A http://identifiers.org/clinvar/306067 ^@ NM_005472.4(KCNE3):c.*851G>A http://identifiers.org/clinvar/306070 ^@ NM_005472.4(KCNE3):c.*667T>C http://identifiers.org/clinvar/311861 ^@ NM_001127217.2(SMAD9):c.*1066G>C http://identifiers.org/clinvar/322727 ^@ NM_145068.3(TRPV3):c.*1083A>C http://identifiers.org/clinvar/311869 ^@ NM_001127217.2(SMAD9):c.*870T>C http://identifiers.org/clinvar/322729 ^@ NM_145068.3(TRPV3):c.*949T>A http://identifiers.org/clinvar/306075 ^@ NM_005472.4(KCNE3):c.*448C>T http://identifiers.org/clinvar/306080 ^@ NM_005472.4(KCNE3):c.*80A>G http://identifiers.org/clinvar/322731 ^@ NM_145068.3(TRPV3):c.*902T>G http://identifiers.org/clinvar/322734 ^@ NM_145068.3(TRPV3):c.*752dupA http://identifiers.org/clinvar/306082 ^@ NM_005472.4(KCNE3):c.-238G>A http://identifiers.org/clinvar/305015 ^@ NM_000062.2(SERPING1):c.-21T>C http://identifiers.org/clinvar/305021 ^@ NM_000062.2(SERPING1):c.227C>T (p.Thr76Ile) http://identifiers.org/clinvar/306085 ^@ NM_006755.1(TALDO1):c.-30_-19delCGCCGCCGCCGC http://identifiers.org/clinvar/306094 ^@ NM_001235.3(SERPINH1):c.-185T>C http://identifiers.org/clinvar/322740 ^@ NM_145068.3(TRPV3):c.*92A>C http://identifiers.org/clinvar/322743 ^@ NM_145068.3(TRPV3):c.*84G>A http://identifiers.org/clinvar/322748 ^@ NM_145068.3(TRPV3):c.*56dupA http://identifiers.org/clinvar/322755 ^@ NM_145068.3(TRPV3):c.2278+10C>T http://identifiers.org/clinvar/305023 ^@ NM_000062.2(SERPING1):c.465C>T (p.His155=) http://identifiers.org/clinvar/305032 ^@ NM_005142.2(GIF):c.910C>T (p.Pro304Ser) http://identifiers.org/clinvar/311876 ^@ NM_001127217.2(SMAD9):c.*637C>T http://identifiers.org/clinvar/322761 ^@ NM_145068.3(TRPV3):c.1810+1G>A http://identifiers.org/clinvar/311877 ^@ NM_001127217.2(SMAD9):c.*624T>G http://identifiers.org/clinvar/322766 ^@ NM_145068.3(TRPV3):c.1504-15C>T http://identifiers.org/clinvar/305033 ^@ NM_005142.2(GIF):c.854A>G (p.Gln285Arg) http://identifiers.org/clinvar/305036 ^@ NM_005142.2(GIF):c.524T>C (p.Met175Thr) http://identifiers.org/clinvar/305040 ^@ NM_005142.2(GIF):c.290T>C (p.Met97Thr) http://identifiers.org/clinvar/322767 ^@ NM_145068.3(TRPV3):c.1503+15C>T http://identifiers.org/clinvar/306098 ^@ NM_001235.3(SERPINH1):c.336C>T (p.Gly112=) http://identifiers.org/clinvar/306099 ^@ NM_001235.3(SERPINH1):c.346C>A (p.Arg116Ser) http://identifiers.org/clinvar/311878 ^@ NM_001127217.2(SMAD9):c.*615A>G http://identifiers.org/clinvar/322771 ^@ NM_145068.3(TRPV3):c.1401+9G>T http://identifiers.org/clinvar/311885 ^@ NM_001127217.2(SMAD9):c.*382dupT http://identifiers.org/clinvar/305041 ^@ NM_005142.2(GIF):c.247G>A (p.Asp83Asn) http://identifiers.org/clinvar/311895 ^@ NM_001127217.2(SMAD9):c.1088A>G (p.Asn363Ser) http://identifiers.org/clinvar/311913 ^@ NM_001127217.2(SMAD9):c.-255_-253delTGC http://identifiers.org/clinvar/322777 ^@ NM_145068.3(TRPV3):c.1078A>C (p.Ile360Leu) http://identifiers.org/clinvar/322782 ^@ NM_145068.3(TRPV3):c.958A>G (p.Met320Val) http://identifiers.org/clinvar/305044 ^@ NM_005142.2(GIF):c.154T>A (p.Tyr52Asn) http://identifiers.org/clinvar/322783 ^@ NM_145068.3(TRPV3):c.956G>A (p.Arg319His) http://identifiers.org/clinvar/322789 ^@ NM_145068.3(TRPV3):c.501G>A (p.Thr167=) http://identifiers.org/clinvar/311915 ^@ NM_001127217.2(SMAD9):c.-256_-255insCGC http://identifiers.org/clinvar/311916 ^@ NM_001127217.2(SMAD9):c.-256_-255insAGCCGC http://identifiers.org/clinvar/305047 ^@ NM_016464.4(TMEM138):c.-518C>T http://identifiers.org/clinvar/305049 ^@ NM_016464.4(TMEM138):c.-350A>C http://identifiers.org/clinvar/305050 ^@ NM_016464.4(TMEM138):c.-308A>G http://identifiers.org/clinvar/311914 ^@ NM_001127217.2(SMAD9):c.-264_-255delCGCCGCTGCTinsTGCA http://identifiers.org/clinvar/305051 ^@ NM_016464.4(TMEM138):c.-304C>A http://identifiers.org/clinvar/322790 ^@ NM_145068.3(TRPV3):c.489G>A (p.Thr163=) http://identifiers.org/clinvar/306104 ^@ NM_001235.3(SERPINH1):c.573C>A (p.Asp191Glu) http://identifiers.org/clinvar/322792 ^@ NM_145068.3(TRPV3):c.395T>C (p.Val132Ala) http://identifiers.org/clinvar/322793 ^@ NM_145068.3(TRPV3):c.394G>A (p.Val132Met) http://identifiers.org/clinvar/305052 ^@ NM_016464.4(TMEM138):c.-294G>A http://identifiers.org/clinvar/306106 ^@ NM_001235.3(SERPINH1):c.600A>C (p.Leu200=) http://identifiers.org/clinvar/311923 ^@ NM_001127217.2(SMAD9):c.-268C>G http://identifiers.org/clinvar/305053 ^@ NM_016464.4(TMEM138):c.-255C>T http://identifiers.org/clinvar/322798 ^@ NM_145068.3(TRPV3):c.95C>G (p.Ala32Gly) http://identifiers.org/clinvar/305054 ^@ NM_016464.4(TMEM138):c.-239C>T http://identifiers.org/clinvar/322801 ^@ NM_145068.3(TRPV3):c.20A>G (p.Glu7Gly) http://identifiers.org/clinvar/306111 ^@ NM_001235.3(SERPINH1):c.1011G>A (p.Leu337=) http://identifiers.org/clinvar/306114 ^@ NM_001235.3(SERPINH1):c.*4C>G http://identifiers.org/clinvar/311930 ^@ NM_207361.5(FREM2):c.-219G>A http://identifiers.org/clinvar/322646 ^@ NM_000286.2(PEX12):c.*474A>G http://identifiers.org/clinvar/311935 ^@ NM_207361.5(FREM2):c.175G>C (p.Gly59Arg) http://identifiers.org/clinvar/311945 ^@ NM_207361.5(FREM2):c.1369C>G (p.Leu457Val) http://identifiers.org/clinvar/305059 ^@ NM_016464.4(TMEM138):c.-71G>A http://identifiers.org/clinvar/305062 ^@ NM_016464.4(TMEM138):c.308G>A (p.Arg103His) http://identifiers.org/clinvar/306115 ^@ NM_001235.3(SERPINH1):c.*125A>G http://identifiers.org/clinvar/306124 ^@ NM_001235.3(SERPINH1):c.*580T>G http://identifiers.org/clinvar/311947 ^@ NM_207361.5(FREM2):c.1505C>T (p.Ser502Phe) http://identifiers.org/clinvar/311953 ^@ NM_207361.5(FREM2):c.2062C>G (p.Arg688Gly) http://identifiers.org/clinvar/311954 ^@ NM_207361.5(FREM2):c.2111G>A (p.Gly704Asp) http://identifiers.org/clinvar/306127 ^@ NM_006755.1(TALDO1):c.181C>G (p.Leu61Val) http://identifiers.org/clinvar/311958 ^@ NM_207361.5(FREM2):c.2432G>A (p.Gly811Glu) http://identifiers.org/clinvar/322647 ^@ NM_000286.2(PEX12):c.*433T>C http://identifiers.org/clinvar/305064 ^@ NM_016464.4(TMEM138):c.352A>T (p.Met118Leu) http://identifiers.org/clinvar/322648 ^@ NM_000286.2(PEX12):c.*380G>C http://identifiers.org/clinvar/322654 ^@ NM_000286.2(PEX12):c.84T>C (p.Ser28=) http://identifiers.org/clinvar/305069 ^@ NM_016464.4(TMEM138):c.*228C>G http://identifiers.org/clinvar/322660 ^@ NM_000286.2(PEX12):c.-340G>T http://identifiers.org/clinvar/322806 ^@ NM_145068.3(TRPV3):c.-190G>A http://identifiers.org/clinvar/322811 ^@ NM_145068.3(TRPV3):c.-269A>G http://identifiers.org/clinvar/311962 ^@ NM_207361.5(FREM2):c.3015T>C (p.Thr1005=) http://identifiers.org/clinvar/311966 ^@ NM_207361.5(FREM2):c.3738G>A (p.Thr1246=) http://identifiers.org/clinvar/306132 ^@ NM_006755.1(TALDO1):c.475C>G (p.Gln159Glu) http://identifiers.org/clinvar/322815 ^@ NM_004937.2(CTNS):c.-520T>C http://identifiers.org/clinvar/311972 ^@ NM_207361.5(FREM2):c.4038G>A (p.Gly1346=) http://identifiers.org/clinvar/322817 ^@ NM_004937.2(CTNS):c.-476G>A http://identifiers.org/clinvar/305076 ^@ NM_001173990.2(TMEM216):c.-24C>T http://identifiers.org/clinvar/311973 ^@ NM_207361.5(FREM2):c.4050C>T (p.Gly1350=) http://identifiers.org/clinvar/306139 ^@ NM_006755.1(TALDO1):c.962A>G (p.Lys321Arg) http://identifiers.org/clinvar/306144 ^@ NM_006755.1(TALDO1):c.*30C>T http://identifiers.org/clinvar/311974 ^@ NM_207361.5(FREM2):c.4077T>A (p.Gly1359=) http://identifiers.org/clinvar/306152 ^@ NM_000260.3(MYO7A):c.156C>G (p.Asn52Lys) http://identifiers.org/clinvar/322819 ^@ NM_004937.2(CTNS):c.-429T>C http://identifiers.org/clinvar/306156 ^@ NM_000260.3(MYO7A):c.225C>A (p.Asp75Glu) http://identifiers.org/clinvar/305081 ^@ NM_001173990.2(TMEM216):c.420T>C (p.Ala140=) http://identifiers.org/clinvar/306160 ^@ NM_000260.3(MYO7A):c.549G>A (p.Ser183=) http://identifiers.org/clinvar/322822 ^@ NM_004937.2(CTNS):c.-313G>A http://identifiers.org/clinvar/322827 ^@ NM_004937.2(CTNS):c.-136C>A http://identifiers.org/clinvar/306163 ^@ NM_000260.3(MYO7A):c.874C>T (p.Arg292Trp) http://identifiers.org/clinvar/306167 ^@ NM_000260.3(MYO7A):c.1358G>A (p.Cys453Tyr) http://identifiers.org/clinvar/305088 ^@ NM_001173990.2(TMEM216):c.*372C>T http://identifiers.org/clinvar/322832 ^@ NM_004937.2(CTNS):c.-20+13T>C http://identifiers.org/clinvar/322837 ^@ NM_004937.2(CTNS):c.332C>T (p.Pro111Leu) http://identifiers.org/clinvar/322846 ^@ NM_004937.2(CTNS):c.1083G>A (p.Pro361=) http://identifiers.org/clinvar/322858 ^@ NM_004937.2(CTNS):c.*572A>G http://identifiers.org/clinvar/306170 ^@ NM_000260.3(MYO7A):c.1801G>A (p.Ala601Thr) http://identifiers.org/clinvar/306178 ^@ NM_000260.3(MYO7A):c.2679C>T (p.Ala893=) http://identifiers.org/clinvar/311975 ^@ NM_207361.5(FREM2):c.4127A>G (p.Asp1376Gly) http://identifiers.org/clinvar/322859 ^@ NM_004937.2(CTNS):c.*577T>C http://identifiers.org/clinvar/311979 ^@ NM_207361.5(FREM2):c.4657C>G (p.Pro1553Ala) http://identifiers.org/clinvar/322864 ^@ NM_004937.2(CTNS):c.*737T>A http://identifiers.org/clinvar/306179 ^@ NM_000260.3(MYO7A):c.2697G>A (p.Glu899=) http://identifiers.org/clinvar/306180 ^@ NM_000260.3(MYO7A):c.2759G>A (p.Arg920Gln) http://identifiers.org/clinvar/311984 ^@ NM_207361.5(FREM2):c.4901C>T (p.Thr1634Met) http://identifiers.org/clinvar/311986 ^@ NM_207361.5(FREM2):c.4975G>A (p.Ala1659Thr) http://identifiers.org/clinvar/306184 ^@ NM_000260.3(MYO7A):c.3858G>A (p.Ala1286=) http://identifiers.org/clinvar/306189 ^@ NM_000260.3(MYO7A):c.4842C>A (p.Asn1614Lys) http://identifiers.org/clinvar/306191 ^@ NM_000260.3(MYO7A):c.5088G>T (p.Arg1696=) http://identifiers.org/clinvar/306198 ^@ NM_000260.3(MYO7A):c.5820A>G (p.Ser1940=) http://identifiers.org/clinvar/306212 ^@ NM_024079.4(ALG8):c.1349+5T>C http://identifiers.org/clinvar/306213 ^@ NM_024079.4(ALG8):c.1211C>T (p.Ser404Leu) http://identifiers.org/clinvar/311987 ^@ NM_207361.5(FREM2):c.4990G>A (p.Ala1664Thr) http://identifiers.org/clinvar/311991 ^@ NM_207361.5(FREM2):c.5417G>A (p.Gly1806Asp) http://identifiers.org/clinvar/306218 ^@ NM_024079.4(ALG8):c.896T>C (p.Ile299Thr) http://identifiers.org/clinvar/306219 ^@ NM_024079.4(ALG8):c.862T>C (p.Leu288=) http://identifiers.org/clinvar/322866 ^@ NM_004937.2(CTNS):c.*847C>T http://identifiers.org/clinvar/312002 ^@ NM_207361.5(FREM2):c.6095G>A (p.Arg2032Lys) http://identifiers.org/clinvar/322869 ^@ NM_004937.2(CTNS):c.*942C>T http://identifiers.org/clinvar/312006 ^@ NM_207361.5(FREM2):c.6330T>G (p.Leu2110=) http://identifiers.org/clinvar/312008 ^@ NM_207361.5(FREM2):c.6458C>G (p.Thr2153Ser) http://identifiers.org/clinvar/322873 ^@ NM_004937.2(CTNS):c.*1031_*1033dupGTC http://identifiers.org/clinvar/305095 ^@ NM_017841.2(SDHAF2):c.*76C>T http://identifiers.org/clinvar/306236 ^@ NM_024698.5(SLC25A22):c.*1041C>T http://identifiers.org/clinvar/306245 ^@ NM_024698.5(SLC25A22):c.*753G>A http://identifiers.org/clinvar/306251 ^@ NM_024698.5(SLC25A22):c.*510A>G http://identifiers.org/clinvar/322876 ^@ NM_004937.2(CTNS):c.*1046_*1047dupGG http://identifiers.org/clinvar/306254 ^@ NM_024698.5(SLC25A22):c.*328C>T http://identifiers.org/clinvar/312012 ^@ NM_207361.5(FREM2):c.6989T>C (p.Val2330Ala) http://identifiers.org/clinvar/305103 ^@ NM_017841.2(SDHAF2):c.*415A>G http://identifiers.org/clinvar/322878 ^@ NM_004937.2(CTNS):c.*1116C>T http://identifiers.org/clinvar/305114 ^@ NM_004183.3(BEST1):c.-125G>A http://identifiers.org/clinvar/305121 ^@ NM_004183.3(BEST1):c.699A>G (p.Pro233=) http://identifiers.org/clinvar/305127 ^@ NM_004183.3(BEST1):c.1157A>C (p.His386Pro) http://identifiers.org/clinvar/305132 ^@ NM_004183.3(BEST1):c.*24C>T http://identifiers.org/clinvar/305134 ^@ NG_009033.1:g.19448T>C http://identifiers.org/clinvar/305150 ^@ NM_000327.3(ROM1):c.-499G>C http://identifiers.org/clinvar/322889 ^@ NM_004937.2(CTNS):c.*1366C>G http://identifiers.org/clinvar/322890 ^@ NM_004937.2(CTNS):c.*1383C>T http://identifiers.org/clinvar/305160 ^@ NM_000327.3(ROM1):c.-27C>T http://identifiers.org/clinvar/322891 ^@ NM_004937.2(CTNS):c.*1397C>T http://identifiers.org/clinvar/322899 ^@ NM_004937.2(CTNS):c.*1669C>T http://identifiers.org/clinvar/306256 ^@ NM_024698.5(SLC25A22):c.*107G>A http://identifiers.org/clinvar/306261 ^@ NM_024698.5(SLC25A22):c.717C>T (p.Ala239=) http://identifiers.org/clinvar/306262 ^@ NM_024698.5(SLC25A22):c.678C>T (p.Tyr226=) http://identifiers.org/clinvar/305164 ^@ NM_000327.3(ROM1):c.502T>C (p.Cys168Arg) http://identifiers.org/clinvar/322901 ^@ NM_004937.2(CTNS):c.*1866C>T http://identifiers.org/clinvar/305167 ^@ NM_000327.3(ROM1):c.906G>A (p.Ala302=) http://identifiers.org/clinvar/322903 ^@ NM_004937.2(CTNS):c.*1899G>A http://identifiers.org/clinvar/322907 ^@ NM_004937.2(CTNS):c.*2036G>A http://identifiers.org/clinvar/322913 ^@ NM_004937.2(CTNS):c.*2306T>C http://identifiers.org/clinvar/312018 ^@ NM_207361.5(FREM2):c.7590C>T (p.Gly2530=) http://identifiers.org/clinvar/312026 ^@ NM_207361.5(FREM2):c.8218C>T (p.Arg2740Cys) http://identifiers.org/clinvar/305169 ^@ NM_000327.3(ROM1):c.*14G>C http://identifiers.org/clinvar/322914 ^@ NM_004937.2(CTNS):c.*2383dupC http://identifiers.org/clinvar/306267 ^@ NM_024698.5(SLC25A22):c.327G>C (p.Ala109=) http://identifiers.org/clinvar/322915 ^@ NM_004937.2(CTNS):c.*2477C>G http://identifiers.org/clinvar/305178 ^@ NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) http://identifiers.org/clinvar/305182 ^@ NM_032667.6(BSCL2):c.-9C>T http://identifiers.org/clinvar/305183 ^@ NM_032667.6(BSCL2):c.-60G>A http://identifiers.org/clinvar/306268 ^@ NM_024698.5(SLC25A22):c.150C>T (p.Ser50=) http://identifiers.org/clinvar/312044 ^@ NM_207361.5(FREM2):c.*291A>G http://identifiers.org/clinvar/312045 ^@ NM_207361.5(FREM2):c.*342G>A http://identifiers.org/clinvar/312047 ^@ NM_207361.5(FREM2):c.*1041C>T http://identifiers.org/clinvar/305184 ^@ NM_032667.6(BSCL2):c.-62G>A http://identifiers.org/clinvar/322916 ^@ NM_004937.2(CTNS):c.*2492G>A http://identifiers.org/clinvar/322920 ^@ NM_004937.2(CTNS):c.*2569C>T http://identifiers.org/clinvar/322921 ^@ NM_004937.2(CTNS):c.*2584C>T http://identifiers.org/clinvar/306271 ^@ NM_024698.5(SLC25A22):c.-72T>A http://identifiers.org/clinvar/306277 ^@ NM_024698.5(SLC25A22):c.-163-15C>T http://identifiers.org/clinvar/312050 ^@ NM_207361.5(FREM2):c.*1219G>A http://identifiers.org/clinvar/322924 ^@ NM_004937.2(CTNS):c.*2662G>A http://identifiers.org/clinvar/312054 ^@ NM_207361.5(FREM2):c.*1539C>T http://identifiers.org/clinvar/305186 ^@ NM_032667.6(BSCL2):c.-133G>A http://identifiers.org/clinvar/306279 ^@ NM_024698.5(SLC25A22):c.-188G>A http://identifiers.org/clinvar/306287 ^@ NM_020376.3(PNPLA2):c.-165A>G http://identifiers.org/clinvar/312063 ^@ NM_207361.5(FREM2):c.*1902_*1906dupCCTTT http://identifiers.org/clinvar/312068 ^@ NM_207361.5(FREM2):c.*2296T>C http://identifiers.org/clinvar/305193 ^@ NM_000543.4(SMPD1):c.66C>T (p.Asp22=) http://identifiers.org/clinvar/312075 ^@ NM_207361.5(FREM2):c.*2926G>A http://identifiers.org/clinvar/322926 ^@ NM_000458.3(HNF1B):c.*938A>G http://identifiers.org/clinvar/322927 ^@ NM_000458.3(HNF1B):c.*924C>G http://identifiers.org/clinvar/322930 ^@ NM_000458.3(HNF1B):c.*777G>A http://identifiers.org/clinvar/312076 ^@ NM_207361.5(FREM2):c.*2976A>G http://identifiers.org/clinvar/305195 ^@ NM_000543.4(SMPD1):c.291A>G (p.Leu97=) http://identifiers.org/clinvar/306288 ^@ NM_020376.3(PNPLA2):c.-159A>G http://identifiers.org/clinvar/306290 ^@ NM_020376.3(PNPLA2):c.-118C>T http://identifiers.org/clinvar/312080 ^@ NM_207361.5(FREM2):c.*3481G>A http://identifiers.org/clinvar/312084 ^@ NM_207361.5(FREM2):c.*3736G>C http://identifiers.org/clinvar/312087 ^@ NM_207361.5(FREM2):c.*4465C>T http://identifiers.org/clinvar/306293 ^@ NM_020376.3(PNPLA2):c.-19C>A http://identifiers.org/clinvar/305200 ^@ NM_000543.4(SMPD1):c.879C>T (p.Asp293=) http://identifiers.org/clinvar/306294 ^@ NM_020376.3(PNPLA2):c.326A>G (p.His109Arg) http://identifiers.org/clinvar/322933 ^@ NM_000458.3(HNF1B):c.*683G>A http://identifiers.org/clinvar/322938 ^@ NM_000458.3(HNF1B):c.*384A>G http://identifiers.org/clinvar/306296 ^@ NM_020376.3(PNPLA2):c.487-7G>C http://identifiers.org/clinvar/306299 ^@ NM_020376.3(PNPLA2):c.747G>A (p.Leu249=) http://identifiers.org/clinvar/312089 ^@ NM_207361.5(FREM2):c.*4560G>A http://identifiers.org/clinvar/322942 ^@ NM_000458.3(HNF1B):c.*88A>G http://identifiers.org/clinvar/312094 ^@ NM_207361.5(FREM2):c.*4907C>T http://identifiers.org/clinvar/305202 ^@ NM_000543.4(SMPD1):c.986T>G (p.Phe329Cys) http://identifiers.org/clinvar/312100 ^@ NM_207361.5(FREM2):c.*5533_*5535delTTG http://identifiers.org/clinvar/322943 ^@ NM_000458.3(HNF1B):c.*47T>G http://identifiers.org/clinvar/306300 ^@ NM_020376.3(PNPLA2):c.781T>C (p.Leu261=) http://identifiers.org/clinvar/322947 ^@ NM_000458.3(HNF1B):c.444G>A (p.Ser148=) http://identifiers.org/clinvar/322948 ^@ NM_000458.3(HNF1B):c.36C>T (p.Leu12=) http://identifiers.org/clinvar/306303 ^@ NM_020376.3(PNPLA2):c.912C>A (p.Leu304=) http://identifiers.org/clinvar/322949 ^@ NM_000458.3(HNF1B):c.-31C>G http://identifiers.org/clinvar/312108 ^@ NM_207361.5(FREM2):c.*5600G>T http://identifiers.org/clinvar/312107 ^@ NM_207361.5(FREM2):c.*5610_*5611dupGA http://identifiers.org/clinvar/322951 ^@ NM_000458.3(HNF1B):c.-67C>T http://identifiers.org/clinvar/322952 ^@ NM_000458.3(HNF1B):c.-82G>T http://identifiers.org/clinvar/312113 ^@ NM_207361.5(FREM2):c.*5733C>T http://identifiers.org/clinvar/322956 ^@ NM_001004334.3(GPR179):c.*554C>T http://identifiers.org/clinvar/305203 ^@ NM_000543.4(SMPD1):c.1340+8G>A http://identifiers.org/clinvar/305205 ^@ NM_000543.4(SMPD1):c.1517A>G (p.Tyr506Cys) http://identifiers.org/clinvar/312116 ^@ NM_207361.5(FREM2):c.*5899C>T http://identifiers.org/clinvar/322967 ^@ NM_001004334.3(GPR179):c.6798T>G (p.Phe2266Leu) http://identifiers.org/clinvar/312117 ^@ NM_207361.5(FREM2):c.*5920C>T http://identifiers.org/clinvar/306304 ^@ NM_020376.3(PNPLA2):c.920-13C>T http://identifiers.org/clinvar/312120 ^@ NM_207361.5(FREM2):c.*6183C>T http://identifiers.org/clinvar/312127 ^@ NM_020751.2(COG6):c.-10G>C http://identifiers.org/clinvar/312131 ^@ NM_020751.2(COG6):c.260A>G (p.Asn87Ser) http://identifiers.org/clinvar/322969 ^@ NM_001004334.3(GPR179):c.6475A>G (p.Lys2159Glu) http://identifiers.org/clinvar/312132 ^@ NM_020751.2(COG6):c.310A>G (p.Ile104Val) http://identifiers.org/clinvar/306307 ^@ NM_020376.3(PNPLA2):c.1220C>T (p.Ser407Phe) http://identifiers.org/clinvar/312133 ^@ NM_020751.2(COG6):c.320A>T (p.Asp107Val) http://identifiers.org/clinvar/322971 ^@ NM_001004334.3(GPR179):c.6335C>T (p.Ala2112Val) http://identifiers.org/clinvar/322984 ^@ NM_001004334.3(GPR179):c.4739C>T (p.Pro1580Leu) http://identifiers.org/clinvar/312137 ^@ NM_020751.2(COG6):c.729C>T (p.Asp243=) http://identifiers.org/clinvar/322987 ^@ NM_001004334.3(GPR179):c.3979G>A (p.Asp1327Asn) http://identifiers.org/clinvar/322993 ^@ NM_001004334.3(GPR179):c.3726G>A (p.Glu1242=) http://identifiers.org/clinvar/306309 ^@ NM_020376.3(PNPLA2):c.*130_*133delTGCA http://identifiers.org/clinvar/306310 ^@ NM_020376.3(PNPLA2):c.*248A>G http://identifiers.org/clinvar/312141 ^@ NM_020751.2(COG6):c.1075-12A>C http://identifiers.org/clinvar/312148 ^@ NM_020751.2(COG6):c.1759C>T (p.Arg587Cys) http://identifiers.org/clinvar/305209 ^@ NM_000543.4(SMPD1):c.*74A>C http://identifiers.org/clinvar/305210 ^@ NM_000543.4(SMPD1):c.*91C>T http://identifiers.org/clinvar/322999 ^@ NM_001004334.3(GPR179):c.3448A>G (p.Lys1150Glu) http://identifiers.org/clinvar/312153 ^@ NM_020751.2(COG6):c.*80C>T http://identifiers.org/clinvar/323003 ^@ NM_001004334.3(GPR179):c.3125C>G (p.Ala1042Gly) http://identifiers.org/clinvar/323011 ^@ NM_001004334.3(GPR179):c.2332C>T (p.Arg778Cys) http://identifiers.org/clinvar/312154 ^@ NM_020751.2(COG6):c.*147dupT http://identifiers.org/clinvar/323025 ^@ NM_001004334.3(GPR179):c.991+4T>C http://identifiers.org/clinvar/323032 ^@ NM_001004334.3(GPR179):c.691C>T (p.Pro231Ser) http://identifiers.org/clinvar/323033 ^@ NM_001004334.3(GPR179):c.663G>T (p.Val221=) http://identifiers.org/clinvar/306324 ^@ NM_032273.3(TMEM126A):c.502A>G (p.Met168Val) http://identifiers.org/clinvar/306326 ^@ NM_012193.3(FZD4):c.*5368C>T http://identifiers.org/clinvar/312156 ^@ NM_020751.2(COG6):c.*315delT http://identifiers.org/clinvar/323035 ^@ NM_001004334.3(GPR179):c.654T>G (p.Asp218Glu) http://identifiers.org/clinvar/312157 ^@ NM_020751.2(COG6):c.*443A>G http://identifiers.org/clinvar/312160 ^@ NM_020751.2(COG6):c.*1063delA http://identifiers.org/clinvar/323039 ^@ NM_001004334.3(GPR179):c.296C>T (p.Ala99Val) http://identifiers.org/clinvar/305214 ^@ NM_144585.3(SLC22A12):c.-563A>G http://identifiers.org/clinvar/305216 ^@ NM_144585.3(SLC22A12):c.-469G>A http://identifiers.org/clinvar/305220 ^@ NM_144585.3(SLC22A12):c.-354G>A http://identifiers.org/clinvar/306335 ^@ NM_012193.3(FZD4):c.*4664T>C http://identifiers.org/clinvar/305222 ^@ NM_144585.3(SLC22A12):c.-310A>C http://identifiers.org/clinvar/305223 ^@ NM_144585.3(SLC22A12):c.-248G>A http://identifiers.org/clinvar/305228 ^@ NM_144585.3(SLC22A12):c.-10A>C http://identifiers.org/clinvar/305229 ^@ NM_144585.3(SLC22A12):c.246C>T (p.Asn82=) http://identifiers.org/clinvar/323043 ^@ NM_001004334.3(GPR179):c.74C>A (p.Ala25Asp) http://identifiers.org/clinvar/323052 ^@ NM_001254.3(CDC6):c.-14+8G>C http://identifiers.org/clinvar/306336 ^@ NM_012193.3(FZD4):c.*4618G>A http://identifiers.org/clinvar/306340 ^@ NM_012193.3(FZD4):c.*4335T>C http://identifiers.org/clinvar/323056 ^@ NM_001254.3(CDC6):c.799T>C (p.Leu267=) http://identifiers.org/clinvar/312164 ^@ NM_020751.2(COG6):c.*1443A>T http://identifiers.org/clinvar/306343 ^@ NM_012193.3(FZD4):c.*4083A>C http://identifiers.org/clinvar/305233 ^@ NM_144585.3(SLC22A12):c.426T>C (p.His142=) http://identifiers.org/clinvar/312165 ^@ NM_020751.2(COG6):c.*1532T>G http://identifiers.org/clinvar/323061 ^@ NM_001254.3(CDC6):c.*181A>G http://identifiers.org/clinvar/305240 ^@ NM_144585.3(SLC22A12):c.1230C>T (p.Ala410=) http://identifiers.org/clinvar/306349 ^@ NM_012193.3(FZD4):c.*3937_*3940delTTTG http://identifiers.org/clinvar/323065 ^@ NM_001254.3(CDC6):c.*414C>T http://identifiers.org/clinvar/305241 ^@ NM_144585.3(SLC22A12):c.1248A>G (p.Ala416=) http://identifiers.org/clinvar/305243 ^@ NM_144585.3(SLC22A12):c.1285+6G>C http://identifiers.org/clinvar/312169 ^@ NM_014252.3(SLC25A15):c.-273C>G http://identifiers.org/clinvar/323066 ^@ NM_001254.3(CDC6):c.*511G>A http://identifiers.org/clinvar/306351 ^@ NM_012193.3(FZD4):c.*3929_*3940delTTTGTTTGTTTG http://identifiers.org/clinvar/323073 ^@ NM_002274.3(KRT13):c.*162A>C http://identifiers.org/clinvar/323074 ^@ NM_002274.3(KRT13):c.*63G>A http://identifiers.org/clinvar/323075 ^@ NM_002274.3(KRT13):c.1260G>A (p.Pro420=) http://identifiers.org/clinvar/312174 ^@ NM_014252.3(SLC25A15):c.-67A>T http://identifiers.org/clinvar/323076 ^@ NM_002274.3(KRT13):c.1250G>A (p.Arg417His) http://identifiers.org/clinvar/312181 ^@ NM_014252.3(SLC25A15):c.565G>A (p.Gly189Ser) http://identifiers.org/clinvar/306356 ^@ NM_012193.3(FZD4):c.*3770A>T http://identifiers.org/clinvar/323078 ^@ NM_002274.3(KRT13):c.1217G>T (p.Arg406Leu) http://identifiers.org/clinvar/306362 ^@ NM_012193.3(FZD4):c.*3197C>G http://identifiers.org/clinvar/306368 ^@ NM_012193.3(FZD4):c.*2779A>C http://identifiers.org/clinvar/323083 ^@ NM_002274.3(KRT13):c.947C>T (p.Thr316Ile) http://identifiers.org/clinvar/323086 ^@ NM_002274.3(KRT13):c.844G>A (p.Glu282Lys) http://identifiers.org/clinvar/305247 ^@ NM_144585.3(SLC22A12):c.1509G>A (p.Thr503=) http://identifiers.org/clinvar/306370 ^@ NM_012193.3(FZD4):c.*2660C>T http://identifiers.org/clinvar/305254 ^@ NM_144585.3(SLC22A12):c.*294delG http://identifiers.org/clinvar/323092 ^@ NM_002274.3(KRT13):c.736-7C>G http://identifiers.org/clinvar/306371 ^@ NM_012193.3(FZD4):c.*2639A>G http://identifiers.org/clinvar/312186 ^@ NM_014252.3(SLC25A15):c.*217G>A http://identifiers.org/clinvar/323093 ^@ NM_002274.3(KRT13):c.735+10A>G http://identifiers.org/clinvar/312202 ^@ NM_014252.3(SLC25A15):c.*1595G>A http://identifiers.org/clinvar/323102 ^@ NM_002274.3(KRT13):c.420C>T (p.His140=) http://identifiers.org/clinvar/323107 ^@ NM_002274.3(KRT13):c.177T>C (p.Ser59=) http://identifiers.org/clinvar/305256 ^@ NM_144585.3(SLC22A12):c.*476delT http://identifiers.org/clinvar/305260 ^@ NM_144585.3(SLC22A12):c.*626G>A http://identifiers.org/clinvar/305262 ^@ NM_144585.3(SLC22A12):c.*795G>A http://identifiers.org/clinvar/323109 ^@ NM_000226.3(KRT9):c.*309delC http://identifiers.org/clinvar/323114 ^@ NM_000226.3(KRT9):c.1800C>T (p.Tyr600=) http://identifiers.org/clinvar/323118 ^@ NM_000226.3(KRT9):c.1520G>T (p.Gly507Val) http://identifiers.org/clinvar/312211 ^@ NM_014252.3(SLC25A15):c.*1982A>C http://identifiers.org/clinvar/312214 ^@ NM_014252.3(SLC25A15):c.*2105A>T http://identifiers.org/clinvar/305265 ^@ NM_005609.3(PYGM):c.2398C>T (p.Arg800Trp) http://identifiers.org/clinvar/312215 ^@ NM_014252.3(SLC25A15):c.*2190T>C http://identifiers.org/clinvar/312216 ^@ NM_014252.3(SLC25A15):c.*2264C>T http://identifiers.org/clinvar/306375 ^@ NM_012193.3(FZD4):c.*2517A>G http://identifiers.org/clinvar/306379 ^@ NM_012193.3(FZD4):c.*2150A>C http://identifiers.org/clinvar/306380 ^@ NM_012193.3(FZD4):c.*2101C>G http://identifiers.org/clinvar/323120 ^@ NM_000226.3(KRT9):c.1407A>T (p.Gly469=) http://identifiers.org/clinvar/323123 ^@ NM_000226.3(KRT9):c.1394T>G (p.Phe465Cys) http://identifiers.org/clinvar/323134 ^@ NM_000226.3(KRT9):c.644T>C (p.Ile215Thr) http://identifiers.org/clinvar/305268 ^@ NM_005609.3(PYGM):c.2290A>G (p.Asn764Asp) http://identifiers.org/clinvar/323137 ^@ NM_000226.3(KRT9):c.351T>C (p.Gly117=) http://identifiers.org/clinvar/306394 ^@ NM_012193.3(FZD4):c.*647A>G http://identifiers.org/clinvar/306399 ^@ NM_012193.3(FZD4):c.*135C>T http://identifiers.org/clinvar/306402 ^@ NM_012193.3(FZD4):c.1589G>A (p.Gly530Glu) http://identifiers.org/clinvar/305271 ^@ NM_005609.3(PYGM):c.1339A>C (p.Ile447Leu) http://identifiers.org/clinvar/306406 ^@ NM_012193.3(FZD4):c.1405G>A (p.Ala469Thr) http://identifiers.org/clinvar/323139 ^@ NM_000226.3(KRT9):c.245G>A (p.Ser82Asn) http://identifiers.org/clinvar/323142 ^@ NM_000226.3(KRT9):c.72C>T (p.Ser24=) http://identifiers.org/clinvar/312222 ^@ NM_003701.3(TNFSF11):c.-127C>G http://identifiers.org/clinvar/312224 ^@ NM_003701.3(TNFSF11):c.-74C>T http://identifiers.org/clinvar/312229 ^@ NM_003701.3(TNFSF11):c.107C>G (p.Pro36Arg) http://identifiers.org/clinvar/312234 ^@ NM_003701.3(TNFSF11):c.424G>A (p.Ala142Thr) http://identifiers.org/clinvar/323144 ^@ NM_000226.3(KRT9):c.-31G>A http://identifiers.org/clinvar/306409 ^@ NM_012193.3(FZD4):c.48C>T (p.Gly16=) http://identifiers.org/clinvar/305272 ^@ NM_005609.3(PYGM):c.1266C>T (p.Asp422=) http://identifiers.org/clinvar/312236 ^@ NM_003701.3(TNFSF11):c.911A>G (p.Asp304Gly) http://identifiers.org/clinvar/323147 ^@ NM_002230.2(JUP):c.*1136C>T http://identifiers.org/clinvar/323153 ^@ NM_002230.2(JUP):c.*573C>T http://identifiers.org/clinvar/305273 ^@ NM_005609.3(PYGM):c.1239+12G>A http://identifiers.org/clinvar/323155 ^@ NM_002230.2(JUP):c.*436G>A http://identifiers.org/clinvar/305279 ^@ NM_005609.3(PYGM):c.606C>T (p.His202=) http://identifiers.org/clinvar/312240 ^@ NM_003701.3(TNFSF11):c.*113G>A http://identifiers.org/clinvar/323160 ^@ NM_002230.2(JUP):c.*87G>A http://identifiers.org/clinvar/312246 ^@ NM_003701.3(TNFSF11):c.*383C>T http://identifiers.org/clinvar/312249 ^@ NM_003701.3(TNFSF11):c.*742G>A http://identifiers.org/clinvar/312250 ^@ NM_003701.3(TNFSF11):c.*745T>C http://identifiers.org/clinvar/306411 ^@ NM_012193.3(FZD4):c.-130C>T http://identifiers.org/clinvar/323175 ^@ NM_002230.2(JUP):c.-88A>G http://identifiers.org/clinvar/323179 ^@ NM_021939.3(FKBP10):c.-183C>G http://identifiers.org/clinvar/312259 ^@ NM_003850.2(SUCLA2):c.*328A>G http://identifiers.org/clinvar/323196 ^@ NM_021939.3(FKBP10):c.*367_*370delCTTT http://identifiers.org/clinvar/312260 ^@ NM_003850.2(SUCLA2):c.*297_*299delTTC http://identifiers.org/clinvar/312274 ^@ NM_003850.2(SUCLA2):c.-12T>G http://identifiers.org/clinvar/306412 ^@ NM_012193.3(FZD4):c.-252C>T http://identifiers.org/clinvar/323200 ^@ NM_021939.3(FKBP10):c.*422C>G http://identifiers.org/clinvar/323205 ^@ NM_139276.2(STAT3):c.*2343_*2344delCT http://identifiers.org/clinvar/306418 ^@ NM_001814.5(CTSC):c.1194C>G (p.Asn398Lys) http://identifiers.org/clinvar/323214 ^@ NM_139276.2(STAT3):c.*1850C>T http://identifiers.org/clinvar/305303 ^@ NM_130799.2(MEN1):c.*438C>T http://identifiers.org/clinvar/323215 ^@ NM_139276.2(STAT3):c.*1850C>G http://identifiers.org/clinvar/323216 ^@ NM_139276.2(STAT3):c.*1675T>C http://identifiers.org/clinvar/312278 ^@ NM_000321.2(RB1):c.-156C>A http://identifiers.org/clinvar/312279 ^@ NM_000321.2(RB1):c.-153G>T http://identifiers.org/clinvar/312282 ^@ NM_000321.2(RB1):c.299G>C (p.Gly100Ala) http://identifiers.org/clinvar/305305 ^@ NM_130799.2(MEN1):c.*373G>C http://identifiers.org/clinvar/305306 ^@ NM_130799.2(MEN1):c.*306_*308delCTC http://identifiers.org/clinvar/323218 ^@ NM_139276.2(STAT3):c.*1671C>T http://identifiers.org/clinvar/323219 ^@ NM_139276.2(STAT3):c.*1517G>A http://identifiers.org/clinvar/306420 ^@ NM_001814.5(CTSC):c.1123G>A (p.Glu375Lys) http://identifiers.org/clinvar/323224 ^@ NM_139276.2(STAT3):c.*1316A>G http://identifiers.org/clinvar/312286 ^@ NM_000321.2(RB1):c.862-15C>A http://identifiers.org/clinvar/305311 ^@ NM_130799.2(MEN1):c.*104C>T http://identifiers.org/clinvar/306424 ^@ NM_001814.5(CTSC):c.850A>G (p.Ser284Gly) http://identifiers.org/clinvar/312291 ^@ NM_000321.2(RB1):c.1707A>G (p.Leu569=) http://identifiers.org/clinvar/312300 ^@ NM_000321.2(RB1):c.*184A>T http://identifiers.org/clinvar/312301 ^@ NM_000321.2(RB1):c.*398G>T http://identifiers.org/clinvar/306432 ^@ NM_001814.5(CTSC):c.29C>T (p.Ala10Val) http://identifiers.org/clinvar/312304 ^@ NM_000321.2(RB1):c.*448_*451delATCT http://identifiers.org/clinvar/312305 ^@ NM_000321.2(RB1):c.*463T>A http://identifiers.org/clinvar/312308 ^@ NM_000321.2(RB1):c.*673G>T http://identifiers.org/clinvar/305313 ^@ NM_130799.2(MEN1):c.1186-10C>T http://identifiers.org/clinvar/312309 ^@ NM_000321.2(RB1):c.*703G>T http://identifiers.org/clinvar/305318 ^@ NM_130799.2(MEN1):c.-35A>C http://identifiers.org/clinvar/305319 ^@ NM_130799.2(MEN1):c.-94G>A http://identifiers.org/clinvar/305321 ^@ NM_032193.3(RNASEH2C):c.*2097C>T http://identifiers.org/clinvar/306433 ^@ NM_001814.5(CTSC):c.1A>G (p.Met1Val) http://identifiers.org/clinvar/306439 ^@ NM_001814.5(CTSC):c.-74T>C http://identifiers.org/clinvar/306440 ^@ NM_001814.5(CTSC):c.-80G>C http://identifiers.org/clinvar/305323 ^@ NM_032193.3(RNASEH2C):c.*1977C>T http://identifiers.org/clinvar/305330 ^@ NM_032193.3(RNASEH2C):c.*1737C>T http://identifiers.org/clinvar/305339 ^@ NM_032193.3(RNASEH2C):c.*948dupT http://identifiers.org/clinvar/306444 ^@ NM_000372.4(TYR):c.194T>C (p.Leu65Pro) http://identifiers.org/clinvar/305343 ^@ NM_032193.3(RNASEH2C):c.*719T>G http://identifiers.org/clinvar/323226 ^@ NM_139276.2(STAT3):c.*1266G>A http://identifiers.org/clinvar/323228 ^@ NM_139276.2(STAT3):c.*1125G>A http://identifiers.org/clinvar/312311 ^@ NM_000321.2(RB1):c.*964C>G http://identifiers.org/clinvar/312319 ^@ NM_000321.2(RB1):c.*1635T>A http://identifiers.org/clinvar/306448 ^@ NM_005591.3(MRE11):c.*2699A>T http://identifiers.org/clinvar/323229 ^@ NM_139276.2(STAT3):c.*895A>G http://identifiers.org/clinvar/312323 ^@ NM_024570.3(RNASEH2B):c.-228C>A http://identifiers.org/clinvar/323232 ^@ NM_139276.2(STAT3):c.*730G>A http://identifiers.org/clinvar/312332 ^@ NM_024570.3(RNASEH2B):c.756A>G (p.Ser252=) http://identifiers.org/clinvar/312335 ^@ NM_024570.3(RNASEH2B):c.897C>A (p.Thr299=) http://identifiers.org/clinvar/306456 ^@ NM_005591.3(MRE11):c.*2178A>C http://identifiers.org/clinvar/323234 ^@ NM_139276.2(STAT3):c.*646T>C http://identifiers.org/clinvar/323237 ^@ NM_139276.2(STAT3):c.*351_*353delGTT http://identifiers.org/clinvar/323244 ^@ NM_139276.2(STAT3):c.1519G>T (p.Val507Phe) http://identifiers.org/clinvar/305344 ^@ NM_032193.3(RNASEH2C):c.*706T>A http://identifiers.org/clinvar/305348 ^@ NM_032193.3(RNASEH2C):c.*532C>G http://identifiers.org/clinvar/312337 ^@ NM_024570.3(RNASEH2B):c.*159A>G http://identifiers.org/clinvar/306458 ^@ NM_005591.3(MRE11):c.*2067A>G http://identifiers.org/clinvar/323253 ^@ NM_012232.5(CAVIN1):c.*2211G>A http://identifiers.org/clinvar/312341 ^@ NM_000053.3(ATP7B):c.*1805C>T http://identifiers.org/clinvar/323256 ^@ NM_012232.5(CAVIN1):c.*1856C>T http://identifiers.org/clinvar/312347 ^@ NM_000053.3(ATP7B):c.*1659A>G http://identifiers.org/clinvar/306460 ^@ NM_005591.3(MRE11):c.*1743dupA http://identifiers.org/clinvar/323261 ^@ NM_012232.5(CAVIN1):c.*1508G>A http://identifiers.org/clinvar/323263 ^@ NM_012232.5(CAVIN1):c.*1446G>C http://identifiers.org/clinvar/305350 ^@ NM_032193.3(RNASEH2C):c.*451C>T http://identifiers.org/clinvar/305354 ^@ NM_032193.3(RNASEH2C):c.*223G>A http://identifiers.org/clinvar/305355 ^@ NM_032193.3(RNASEH2C):c.*45_*46insG http://identifiers.org/clinvar/306468 ^@ NM_005591.3(MRE11):c.*910dupT http://identifiers.org/clinvar/312351 ^@ NM_000053.3(ATP7B):c.*1493T>C http://identifiers.org/clinvar/323265 ^@ NM_012232.5(CAVIN1):c.*1185T>C http://identifiers.org/clinvar/323268 ^@ NM_012232.5(CAVIN1):c.*766T>A http://identifiers.org/clinvar/312352 ^@ NM_000053.3(ATP7B):c.*1491A>G http://identifiers.org/clinvar/323273 ^@ NM_012232.5(CAVIN1):c.*347C>A http://identifiers.org/clinvar/305361 ^@ NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) http://identifiers.org/clinvar/305362 ^@ NM_032193.3(RNASEH2C):c.348+6C>T http://identifiers.org/clinvar/312358 ^@ NM_000053.3(ATP7B):c.*1095C>T http://identifiers.org/clinvar/323274 ^@ NM_012232.5(CAVIN1):c.*195C>G http://identifiers.org/clinvar/312367 ^@ NM_000053.3(ATP7B):c.*851T>C http://identifiers.org/clinvar/305363 ^@ NM_032193.3(RNASEH2C):c.268_270delAAG (p.Lys90del) http://identifiers.org/clinvar/312369 ^@ NM_000053.3(ATP7B):c.*781T>C http://identifiers.org/clinvar/323277 ^@ NM_012232.5(CAVIN1):c.1053C>T (p.Gly351=) http://identifiers.org/clinvar/312370 ^@ NM_000053.3(ATP7B):c.*510G>T http://identifiers.org/clinvar/323281 ^@ NM_012232.5(CAVIN1):c.-143C>G http://identifiers.org/clinvar/312372 ^@ NM_000053.3(ATP7B):c.*221C>A http://identifiers.org/clinvar/305367 ^@ NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) http://identifiers.org/clinvar/323291 ^@ NM_000263.3(NAGLU):c.-81C>T http://identifiers.org/clinvar/305375 ^@ NM_016938.4(EFEMP2):c.*115G>A http://identifiers.org/clinvar/305380 ^@ NM_016938.4(EFEMP2):c.885C>T (p.Ser295=) http://identifiers.org/clinvar/306470 ^@ NM_005591.3(MRE11):c.*741A>G http://identifiers.org/clinvar/306473 ^@ NM_005591.3(MRE11):c.*660C>T http://identifiers.org/clinvar/305384 ^@ NM_016938.4(EFEMP2):c.161-10C>T http://identifiers.org/clinvar/323293 ^@ NM_000263.3(NAGLU):c.170C>G (p.Ala57Gly) http://identifiers.org/clinvar/305393 ^@ NM_001143985.1(BANF1):c.-429G>C http://identifiers.org/clinvar/323294 ^@ NM_000263.3(NAGLU):c.348C>T (p.Ala116=) http://identifiers.org/clinvar/323298 ^@ NM_000263.3(NAGLU):c.1119G>T (p.Val373=) http://identifiers.org/clinvar/305407 ^@ NM_001143985.1(BANF1):c.*64T>A http://identifiers.org/clinvar/323299 ^@ NM_000263.3(NAGLU):c.1272C>T (p.Asn424=) http://identifiers.org/clinvar/323309 ^@ NM_032387.4(WNK4):c.14C>T (p.Pro5Leu) http://identifiers.org/clinvar/323314 ^@ NM_032387.4(WNK4):c.679G>T (p.Gly227Trp) http://identifiers.org/clinvar/306478 ^@ NM_005591.3(MRE11):c.*659_*660insTCTCTCTCCC http://identifiers.org/clinvar/306479 ^@ NM_005591.3(MRE11):c.*659_*660insTCTCTCTCTCTCCC http://identifiers.org/clinvar/305408 ^@ NM_001143985.1(BANF1):c.*120T>A http://identifiers.org/clinvar/312378 ^@ NM_000053.3(ATP7B):c.3885C>T (p.Ala1295=) http://identifiers.org/clinvar/323315 ^@ NM_032387.4(WNK4):c.717G>T (p.Ser239=) http://identifiers.org/clinvar/312383 ^@ NM_000053.3(ATP7B):c.3182G>A (p.Gly1061Glu) http://identifiers.org/clinvar/312390 ^@ NM_000053.3(ATP7B):c.1543+13C>T http://identifiers.org/clinvar/306481 ^@ NM_005591.3(MRE11):c.*658_*659delTC http://identifiers.org/clinvar/306485 ^@ NM_005591.3(MRE11):c.*442A>G http://identifiers.org/clinvar/306486 ^@ NM_005591.3(MRE11):c.*313G>A http://identifiers.org/clinvar/323319 ^@ NM_032387.4(WNK4):c.1523G>A (p.Arg508His) http://identifiers.org/clinvar/323325 ^@ NM_032387.4(WNK4):c.1664C>G (p.Pro555Arg) http://identifiers.org/clinvar/306499 ^@ NM_005591.3(MRE11):c.-178G>A http://identifiers.org/clinvar/305414 ^@ NM_053054.3(CATSPER1):c.*96G>A http://identifiers.org/clinvar/312392 ^@ NM_000053.3(ATP7B):c.1231G>A (p.Glu411Lys) http://identifiers.org/clinvar/312393 ^@ NM_000053.3(ATP7B):c.1230A>G (p.Pro410=) http://identifiers.org/clinvar/305418 ^@ NM_053054.3(CATSPER1):c.2108C>T (p.Thr703Met) http://identifiers.org/clinvar/312395 ^@ NM_000053.3(ATP7B):c.1122C>G (p.Val374=) http://identifiers.org/clinvar/312396 ^@ NM_000053.3(ATP7B):c.740A>G (p.Glu247Gly) http://identifiers.org/clinvar/312400 ^@ NM_000053.3(ATP7B):c.133G>A (p.Glu45Lys) http://identifiers.org/clinvar/312401 ^@ NM_000053.3(ATP7B):c.51+4A>T http://identifiers.org/clinvar/306500 ^@ NM_016156.5(MTMR2):c.*2406C>T http://identifiers.org/clinvar/323334 ^@ NM_032387.4(WNK4):c.1953C>T (p.Ser651=) http://identifiers.org/clinvar/312402 ^@ NM_000053.3(ATP7B):c.-54G>T http://identifiers.org/clinvar/323343 ^@ NM_032387.4(WNK4):c.2724G>A (p.Pro908=) http://identifiers.org/clinvar/312410 ^@ NM_001004127.2(ALG11):c.75C>T (p.Leu25=) http://identifiers.org/clinvar/306503 ^@ NM_016156.5(MTMR2):c.*2038C>G http://identifiers.org/clinvar/305426 ^@ NM_053054.3(CATSPER1):c.1544-11C>T http://identifiers.org/clinvar/305428 ^@ NM_053054.3(CATSPER1):c.1514C>T (p.Ser505Leu) http://identifiers.org/clinvar/323345 ^@ NM_032387.4(WNK4):c.2837C>G (p.Pro946Arg) http://identifiers.org/clinvar/305429 ^@ NM_053054.3(CATSPER1):c.1467C>T (p.Cys489=) http://identifiers.org/clinvar/306514 ^@ NM_016156.5(MTMR2):c.*1419G>A http://identifiers.org/clinvar/306516 ^@ NM_016156.5(MTMR2):c.*1343_*1344delCA http://identifiers.org/clinvar/305439 ^@ NM_053054.3(CATSPER1):c.883C>T (p.Arg295Trp) http://identifiers.org/clinvar/305447 ^@ NM_053054.3(CATSPER1):c.397G>A (p.Gly133Ser) http://identifiers.org/clinvar/306518 ^@ NM_016156.5(MTMR2):c.*1150C>T http://identifiers.org/clinvar/305449 ^@ NM_053054.3(CATSPER1):c.292C>T (p.Leu98=) http://identifiers.org/clinvar/312414 ^@ NM_001004127.2(ALG11):c.1029A>G (p.Gly343=) http://identifiers.org/clinvar/312420 ^@ NM_001004127.2(ALG11):c.*297G>A http://identifiers.org/clinvar/323346 ^@ NM_032387.4(WNK4):c.2842C>A (p.Leu948Ile) http://identifiers.org/clinvar/312427 ^@ NM_006493.2(CLN5):c.713-7A>G http://identifiers.org/clinvar/312428 ^@ NM_006493.2(CLN5):c.789A>T (p.Val263=) http://identifiers.org/clinvar/305452 ^@ NM_053054.3(CATSPER1):c.54C>T (p.Asn18=) http://identifiers.org/clinvar/323354 ^@ NM_032387.4(WNK4):c.3595C>A (p.Arg1199Ser) http://identifiers.org/clinvar/312436 ^@ NM_006493.2(CLN5):c.*721G>A http://identifiers.org/clinvar/312439 ^@ NM_006493.2(CLN5):c.*1132A>G http://identifiers.org/clinvar/323357 ^@ NM_032387.4(WNK4):c.*335C>G http://identifiers.org/clinvar/306519 ^@ NM_016156.5(MTMR2):c.*1100_*1103dupATTT http://identifiers.org/clinvar/306524 ^@ NM_016156.5(MTMR2):c.*837G>A http://identifiers.org/clinvar/323361 ^@ NM_000151.3(G6PC):c.577G>C (p.Glu193Gln) http://identifiers.org/clinvar/323364 ^@ NM_000151.3(G6PC):c.993G>C (p.Ala331=) http://identifiers.org/clinvar/312440 ^@ NM_006493.2(CLN5):c.*1169T>C http://identifiers.org/clinvar/306526 ^@ NM_016156.5(MTMR2):c.*660G>A http://identifiers.org/clinvar/306527 ^@ NM_016156.5(MTMR2):c.*549G>A http://identifiers.org/clinvar/312443 ^@ NM_000115.4(EDNRB):c.*2355T>C http://identifiers.org/clinvar/323367 ^@ NM_000151.3(G6PC):c.*120G>A http://identifiers.org/clinvar/312445 ^@ NM_000115.4(EDNRB):c.*2258G>T http://identifiers.org/clinvar/323375 ^@ NM_000151.3(G6PC):c.*727T>C http://identifiers.org/clinvar/312449 ^@ NM_000115.4(EDNRB):c.*2064T>G http://identifiers.org/clinvar/323387 ^@ NM_000151.3(G6PC):c.*1454C>T http://identifiers.org/clinvar/312451 ^@ NM_000115.4(EDNRB):c.*1906G>A http://identifiers.org/clinvar/312457 ^@ NM_000115.4(EDNRB):c.*1496G>A http://identifiers.org/clinvar/312460 ^@ NM_000115.4(EDNRB):c.*1310C>T http://identifiers.org/clinvar/312467 ^@ NM_000115.4(EDNRB):c.*296A>G http://identifiers.org/clinvar/306528 ^@ NM_016156.5(MTMR2):c.*347_*348delCT http://identifiers.org/clinvar/305455 ^@ NM_053054.3(CATSPER1):c.-92T>C http://identifiers.org/clinvar/305486 ^@ NM_000391.3(TPP1):c.*1774G>A http://identifiers.org/clinvar/312471 ^@ NM_000115.4(EDNRB):c.777C>T (p.Pro259=) http://identifiers.org/clinvar/312474 ^@ NM_052910.2(SLITRK1):c.*2186T>A http://identifiers.org/clinvar/306532 ^@ NM_016156.5(MTMR2):c.*85A>C http://identifiers.org/clinvar/305488 ^@ NM_000391.3(TPP1):c.*1634T>C http://identifiers.org/clinvar/312475 ^@ NM_052910.2(SLITRK1):c.*2087T>C http://identifiers.org/clinvar/312477 ^@ NM_052910.2(SLITRK1):c.*2042T>A http://identifiers.org/clinvar/323391 ^@ NM_000151.3(G6PC):c.*1652C>T http://identifiers.org/clinvar/305489 ^@ NM_000391.3(TPP1):c.*1628G>A http://identifiers.org/clinvar/323399 ^@ NM_000151.3(G6PC):c.*2311C>T http://identifiers.org/clinvar/323406 ^@ NM_000151.3(G6PC):c.*2847T>C http://identifiers.org/clinvar/305491 ^@ NM_000391.3(TPP1):c.*1570C>T http://identifiers.org/clinvar/306542 ^@ NM_016156.5(MTMR2):c.655-8A>G http://identifiers.org/clinvar/305493 ^@ NM_000391.3(TPP1):c.*1412T>G http://identifiers.org/clinvar/312478 ^@ NM_052910.2(SLITRK1):c.*1944A>G http://identifiers.org/clinvar/312481 ^@ NM_052910.2(SLITRK1):c.*1313C>G http://identifiers.org/clinvar/305498 ^@ NM_000391.3(TPP1):c.*1000T>C http://identifiers.org/clinvar/305500 ^@ NM_000391.3(TPP1):c.*785T>G http://identifiers.org/clinvar/306545 ^@ NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) http://identifiers.org/clinvar/312490 ^@ NM_052910.2(SLITRK1):c.*649A>G http://identifiers.org/clinvar/323410 ^@ NM_007294.3(BRCA1):c.*1285C>A http://identifiers.org/clinvar/312496 ^@ NM_052910.2(SLITRK1):c.*23G>A http://identifiers.org/clinvar/323417 ^@ NM_007294.3(BRCA1):c.*485G>A http://identifiers.org/clinvar/312509 ^@ NM_052910.2(SLITRK1):c.-240delG http://identifiers.org/clinvar/312510 ^@ NM_052910.2(SLITRK1):c.-241dupT http://identifiers.org/clinvar/323419 ^@ NM_007294.3(BRCA1):c.*387T>G http://identifiers.org/clinvar/306555 ^@ NM_030962.3(SBF2):c.*1413A>G http://identifiers.org/clinvar/323421 ^@ NM_007294.3(BRCA1):c.5466T>C (p.His1822=) http://identifiers.org/clinvar/305507 ^@ NM_000391.3(TPP1):c.1281G>A (p.Thr427=) http://identifiers.org/clinvar/305509 ^@ NM_000391.3(TPP1):c.1033A>C (p.Met345Leu) http://identifiers.org/clinvar/312514 ^@ NM_052910.2(SLITRK1):c.-266delA http://identifiers.org/clinvar/323424 ^@ NM_007294.3(BRCA1):c.-109A>T http://identifiers.org/clinvar/312516 ^@ NM_052910.2(SLITRK1):c.-278G>A http://identifiers.org/clinvar/305511 ^@ NM_000391.3(TPP1):c.887-6_887-5delAT http://identifiers.org/clinvar/312521 ^@ NM_052910.2(SLITRK1):c.-589A>G http://identifiers.org/clinvar/323425 ^@ NM_025237.2(SOST):c.*1529T>C http://identifiers.org/clinvar/323440 ^@ NM_025237.2(SOST):c.153G>A (p.Glu51=) http://identifiers.org/clinvar/323446 ^@ NM_153006.2(NAGS):c.904A>G (p.Ser302Gly) http://identifiers.org/clinvar/312522 ^@ NM_052910.2(SLITRK1):c.-591G>A http://identifiers.org/clinvar/312523 ^@ NM_052910.2(SLITRK1):c.-654G>A http://identifiers.org/clinvar/323447 ^@ NM_153006.2(NAGS):c.1231C>A (p.Leu411Met) http://identifiers.org/clinvar/323449 ^@ NM_153006.2(NAGS):c.1281C>G (p.Ala427=) http://identifiers.org/clinvar/312530 ^@ NM_005708.4(GPC6):c.-442C>T http://identifiers.org/clinvar/323451 ^@ NM_153006.2(NAGS):c.1398G>A (p.Arg466=) http://identifiers.org/clinvar/312533 ^@ NM_005708.4(GPC6):c.-137C>T http://identifiers.org/clinvar/312535 ^@ NM_005708.4(GPC6):c.-100G>A http://identifiers.org/clinvar/323456 ^@ NM_138387.3(G6PC3):c.-164G>A http://identifiers.org/clinvar/312538 ^@ NM_005708.4(GPC6):c.49C>A (p.Leu17Ile) http://identifiers.org/clinvar/312545 ^@ NM_005708.4(GPC6):c.1162A>G (p.Ile388Val) http://identifiers.org/clinvar/312556 ^@ NM_005708.4(GPC6):c.*126G>C http://identifiers.org/clinvar/305471 ^@ NM_024649.4(BBS1):c.1695+10G>A http://identifiers.org/clinvar/312561 ^@ NM_005708.4(GPC6):c.*333_*334dupTT http://identifiers.org/clinvar/312560 ^@ NM_005708.4(GPC6):c.*334dupT http://identifiers.org/clinvar/312563 ^@ NM_005708.4(GPC6):c.*338A>C http://identifiers.org/clinvar/305475 ^@ NM_024649.4(BBS1):c.*104G>C http://identifiers.org/clinvar/323458 ^@ NM_138387.3(G6PC3):c.-152T>C http://identifiers.org/clinvar/312565 ^@ NM_005708.4(GPC6):c.*422A>G http://identifiers.org/clinvar/323463 ^@ NM_138387.3(G6PC3):c.377T>C (p.Met126Thr) http://identifiers.org/clinvar/323467 ^@ NM_138387.3(G6PC3):c.647C>T (p.Thr216Ile) http://identifiers.org/clinvar/323473 ^@ NM_138387.3(G6PC3):c.*234C>G http://identifiers.org/clinvar/312573 ^@ NM_005708.4(GPC6):c.*1188T>C http://identifiers.org/clinvar/323474 ^@ NM_000342.3(SLC4A1):c.*1832G>A http://identifiers.org/clinvar/323475 ^@ NM_000342.3(SLC4A1):c.*1721G>A http://identifiers.org/clinvar/305478 ^@ NM_024649.4(BBS1):c.*514C>T http://identifiers.org/clinvar/305484 ^@ NM_024649.4(BBS1):c.*1088G>A http://identifiers.org/clinvar/323476 ^@ NM_000342.3(SLC4A1):c.*1676A>G http://identifiers.org/clinvar/306557 ^@ NM_030962.3(SBF2):c.*1364C>T http://identifiers.org/clinvar/323478 ^@ NM_000342.3(SLC4A1):c.*1606_*1608dupAAA http://identifiers.org/clinvar/305520 ^@ NM_006946.2(SPTBN2):c.*121A>G http://identifiers.org/clinvar/323479 ^@ NM_000342.3(SLC4A1):c.*1608delA http://identifiers.org/clinvar/306558 ^@ NM_030962.3(SBF2):c.*1255G>A http://identifiers.org/clinvar/306573 ^@ NM_030962.3(SBF2):c.*19G>A http://identifiers.org/clinvar/306575 ^@ NM_030962.3(SBF2):c.5296G>A (p.Val1766Ile) http://identifiers.org/clinvar/312578 ^@ NM_005708.4(GPC6):c.*1419C>T http://identifiers.org/clinvar/323487 ^@ NM_000342.3(SLC4A1):c.*1198A>T http://identifiers.org/clinvar/305530 ^@ NM_006946.2(SPTBN2):c.6723-11G>A http://identifiers.org/clinvar/312588 ^@ NM_005708.4(GPC6):c.*1983T>G http://identifiers.org/clinvar/323491 ^@ NM_000342.3(SLC4A1):c.*897G>A http://identifiers.org/clinvar/305531 ^@ NM_006946.2(SPTBN2):c.6674T>C (p.Leu2225Pro) http://identifiers.org/clinvar/323504 ^@ NM_000342.3(SLC4A1):c.2210C>T (p.Ala737Val) http://identifiers.org/clinvar/323507 ^@ NM_000342.3(SLC4A1):c.1637A>G (p.Asp546Gly) http://identifiers.org/clinvar/305534 ^@ NM_006946.2(SPTBN2):c.6528T>C (p.Asn2176=) http://identifiers.org/clinvar/306579 ^@ NM_030962.3(SBF2):c.4931G>A (p.Ser1644Asn) http://identifiers.org/clinvar/306580 ^@ NM_030962.3(SBF2):c.4733A>G (p.Lys1578Arg) http://identifiers.org/clinvar/306581 ^@ NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) http://identifiers.org/clinvar/305543 ^@ NM_006946.2(SPTBN2):c.5871G>C (p.Glu1957Asp) http://identifiers.org/clinvar/306584 ^@ NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) http://identifiers.org/clinvar/312590 ^@ NM_005708.4(GPC6):c.*2240G>A http://identifiers.org/clinvar/323515 ^@ NM_000342.3(SLC4A1):c.636A>G (p.Ser212=) http://identifiers.org/clinvar/323517 ^@ NM_000342.3(SLC4A1):c.286C>T (p.Arg96Cys) http://identifiers.org/clinvar/323518 ^@ NM_000342.3(SLC4A1):c.216G>T (p.Glu72Asp) http://identifiers.org/clinvar/323526 ^@ NM_002087.3(GRN):c.-212G>A http://identifiers.org/clinvar/312593 ^@ NM_005708.4(GPC6):c.*2605C>A http://identifiers.org/clinvar/312594 ^@ NM_005708.4(GPC6):c.*2799G>A http://identifiers.org/clinvar/305547 ^@ NM_006946.2(SPTBN2):c.5340C>T (p.Asn1780=) http://identifiers.org/clinvar/323528 ^@ NM_002087.3(GRN):c.-173C>T http://identifiers.org/clinvar/305553 ^@ NM_006946.2(SPTBN2):c.4899G>A (p.Leu1633=) http://identifiers.org/clinvar/323529 ^@ NM_002087.3(GRN):c.-72G>T http://identifiers.org/clinvar/323530 ^@ NM_002087.3(GRN):c.-45C>G http://identifiers.org/clinvar/323540 ^@ NM_000419.4(ITGA2B):c.*150C>A http://identifiers.org/clinvar/305556 ^@ NM_006946.2(SPTBN2):c.4330G>A (p.Ala1444Thr) http://identifiers.org/clinvar/305561 ^@ NM_006946.2(SPTBN2):c.3795C>T (p.Asp1265=) http://identifiers.org/clinvar/306590 ^@ NM_030962.3(SBF2):c.3001A>T (p.Met1001Leu) http://identifiers.org/clinvar/323543 ^@ NM_000419.4(ITGA2B):c.2728-15G>T http://identifiers.org/clinvar/306592 ^@ NM_030962.3(SBF2):c.2850C>T (p.Ile950=) http://identifiers.org/clinvar/305562 ^@ NM_006946.2(SPTBN2):c.3765C>T (p.Ser1255=) http://identifiers.org/clinvar/305565 ^@ NM_006946.2(SPTBN2):c.3431G>A (p.Arg1144Gln) http://identifiers.org/clinvar/323548 ^@ NM_000419.4(ITGA2B):c.1958C>T (p.Pro653Leu) http://identifiers.org/clinvar/305566 ^@ NM_006946.2(SPTBN2):c.3429A>G (p.Leu1143=) http://identifiers.org/clinvar/305571 ^@ NM_006946.2(SPTBN2):c.2685G>A (p.Glu895=) http://identifiers.org/clinvar/312596 ^@ NM_005708.4(GPC6):c.*3020G>A http://identifiers.org/clinvar/312602 ^@ NM_005708.4(GPC6):c.*3833G>C http://identifiers.org/clinvar/312605 ^@ NM_005708.4(GPC6):c.*4169A>C http://identifiers.org/clinvar/305577 ^@ NM_006946.2(SPTBN2):c.2064C>T (p.Gly688=) http://identifiers.org/clinvar/323549 ^@ NM_000419.4(ITGA2B):c.1945G>T (p.Val649Leu) http://identifiers.org/clinvar/323552 ^@ NM_000419.4(ITGA2B):c.1739T>C (p.Met580Thr) http://identifiers.org/clinvar/306598 ^@ NM_030962.3(SBF2):c.2474A>G (p.Lys825Arg) http://identifiers.org/clinvar/306603 ^@ NM_030962.3(SBF2):c.1971A>G (p.Val657=) http://identifiers.org/clinvar/312612 ^@ NM_001376.4(DYNC1H1):c.-137C>T http://identifiers.org/clinvar/323559 ^@ NM_000419.4(ITGA2B):c.1014G>A (p.Leu338=) http://identifiers.org/clinvar/306605 ^@ NM_030962.3(SBF2):c.1601-4C>G http://identifiers.org/clinvar/323561 ^@ NM_000419.4(ITGA2B):c.891+12delC http://identifiers.org/clinvar/305580 ^@ NM_006946.2(SPTBN2):c.1827G>T (p.Pro609=) http://identifiers.org/clinvar/323569 ^@ NM_000419.4(ITGA2B):c.574+10A>G http://identifiers.org/clinvar/306619 ^@ NM_139319.2(SLC17A8):c.-218T>C http://identifiers.org/clinvar/323571 ^@ NM_000419.4(ITGA2B):c.230G>A (p.Ser77Asn) http://identifiers.org/clinvar/312613 ^@ NM_001376.4(DYNC1H1):c.-53G>A http://identifiers.org/clinvar/312616 ^@ NM_001376.4(DYNC1H1):c.161C>T (p.Ala54Val) http://identifiers.org/clinvar/323572 ^@ NM_000419.4(ITGA2B):c.207C>T (p.Gly69=) http://identifiers.org/clinvar/312626 ^@ NM_001376.4(DYNC1H1):c.3495T>C (p.Asp1165=) http://identifiers.org/clinvar/312629 ^@ NM_001376.4(DYNC1H1):c.5050G>A (p.Val1684Ile) http://identifiers.org/clinvar/312631 ^@ NM_001376.4(DYNC1H1):c.5295A>G (p.Ala1765=) http://identifiers.org/clinvar/312634 ^@ NM_001376.4(DYNC1H1):c.6221+13G>T http://identifiers.org/clinvar/323575 ^@ NM_213607.2(CCDC103):c.-150A>G http://identifiers.org/clinvar/312636 ^@ NM_001376.4(DYNC1H1):c.6711G>A (p.Leu2237=) http://identifiers.org/clinvar/312638 ^@ NM_001376.4(DYNC1H1):c.7308G>A (p.Ala2436=) http://identifiers.org/clinvar/312639 ^@ NM_001376.4(DYNC1H1):c.7410G>A (p.Ala2470=) http://identifiers.org/clinvar/312646 ^@ NM_001376.4(DYNC1H1):c.10575T>C (p.Arg3525=) http://identifiers.org/clinvar/305582 ^@ NM_006946.2(SPTBN2):c.1722G>A (p.Glu574=) http://identifiers.org/clinvar/323576 ^@ NM_213607.2(CCDC103):c.-141C>T http://identifiers.org/clinvar/312647 ^@ NM_001376.4(DYNC1H1):c.10752T>C (p.Asn3584=) http://identifiers.org/clinvar/323582 ^@ NM_213607.2(CCDC103):c.8G>A (p.Arg3Lys) http://identifiers.org/clinvar/312650 ^@ NM_001376.4(DYNC1H1):c.10843C>T (p.Leu3615=) http://identifiers.org/clinvar/305584 ^@ NM_006946.2(SPTBN2):c.1654-13G>A http://identifiers.org/clinvar/323583 ^@ NM_213607.2(CCDC103):c.513G>A (p.Ala171=) http://identifiers.org/clinvar/305585 ^@ NM_006946.2(SPTBN2):c.1479C>T (p.Ala493=) http://identifiers.org/clinvar/305587 ^@ NM_006946.2(SPTBN2):c.1351-7G>T http://identifiers.org/clinvar/306622 ^@ NM_139319.2(SLC17A8):c.118A>G (p.Thr40Ala) http://identifiers.org/clinvar/306624 ^@ NM_139319.2(SLC17A8):c.221A>C (p.Lys74Thr) http://identifiers.org/clinvar/305590 ^@ NM_006946.2(SPTBN2):c.1221C>T (p.His407=) http://identifiers.org/clinvar/312664 ^@ NM_001376.4(DYNC1H1):c.13359C>T (p.Asn4453=) http://identifiers.org/clinvar/305612 ^@ NM_000920.3(PC):c.*161C>T http://identifiers.org/clinvar/312666 ^@ NM_001376.4(DYNC1H1):c.13675G>A (p.Gly4559Arg) http://identifiers.org/clinvar/312675 ^@ NM_022489.3(INF2):c.-10G>A http://identifiers.org/clinvar/305613 ^@ NM_000920.3(PC):c.*43C>T http://identifiers.org/clinvar/306630 ^@ NM_139319.2(SLC17A8):c.762T>C (p.Tyr254=) http://identifiers.org/clinvar/305614 ^@ NM_000920.3(PC):c.*15G>A http://identifiers.org/clinvar/305616 ^@ NM_000920.3(PC):c.3435G>T (p.Met1145Ile) http://identifiers.org/clinvar/312682 ^@ NM_022489.3(INF2):c.1049C>T (p.Pro350Leu) http://identifiers.org/clinvar/323587 ^@ NM_213607.2(CCDC103):c.*685C>T http://identifiers.org/clinvar/312684 ^@ NM_022489.3(INF2):c.1126A>T (p.Thr376Ser) http://identifiers.org/clinvar/306636 ^@ NM_139319.2(SLC17A8):c.1634_1636delAGA (p.Lys545del) http://identifiers.org/clinvar/323589 ^@ NM_213607.2(CCDC103):c.*787C>T http://identifiers.org/clinvar/323592 ^@ NM_213607.2(CCDC103):c.*795G>A http://identifiers.org/clinvar/323594 ^@ NM_002055.4(GFAP):c.*1695T>C http://identifiers.org/clinvar/306647 ^@ NM_139319.2(SLC17A8):c.*1140T>C http://identifiers.org/clinvar/306648 ^@ NM_139319.2(SLC17A8):c.*1295T>C http://identifiers.org/clinvar/305617 ^@ NM_000920.3(PC):c.3341C>T (p.Ala1114Val) http://identifiers.org/clinvar/323599 ^@ NM_002055.4(GFAP):c.*1074C>T http://identifiers.org/clinvar/305620 ^@ NM_000920.3(PC):c.2705G>A (p.Gly902Asp) http://identifiers.org/clinvar/323601 ^@ NM_002055.4(GFAP):c.*814T>A http://identifiers.org/clinvar/323614 ^@ NM_002055.4(GFAP):c.738G>A (p.Ala246=) http://identifiers.org/clinvar/312688 ^@ NM_022489.3(INF2):c.1451G>A (p.Cys484Tyr) http://identifiers.org/clinvar/305624 ^@ NM_000920.3(PC):c.1646G>A (p.Gly549Glu) http://identifiers.org/clinvar/306652 ^@ NM_139319.2(SLC17A8):c.*1498dupT http://identifiers.org/clinvar/312691 ^@ NM_022489.3(INF2):c.1647A>G (p.Ala549=) http://identifiers.org/clinvar/312699 ^@ NM_022489.3(INF2):c.2022A>T (p.Gln674His) http://identifiers.org/clinvar/312706 ^@ NM_022489.3(INF2):c.3134G>A (p.Arg1045Gln) http://identifiers.org/clinvar/312708 ^@ NM_022489.3(INF2):c.3206C>T (p.Pro1069Leu) http://identifiers.org/clinvar/305626 ^@ NM_000920.3(PC):c.1401C>T (p.Asn467=) http://identifiers.org/clinvar/305630 ^@ NM_000920.3(PC):c.927C>T (p.Thr309=) http://identifiers.org/clinvar/305637 ^@ NM_000920.3(PC):c.-94G>A http://identifiers.org/clinvar/312719 ^@ NM_022489.3(INF2):c.*388A>G http://identifiers.org/clinvar/312723 ^@ NM_022489.3(INF2):c.*815C>T http://identifiers.org/clinvar/312724 ^@ NM_000270.3(PNP):c.-96G>A http://identifiers.org/clinvar/306704 ^@ NM_002465.3(MYBPC1):c.-75G>T http://identifiers.org/clinvar/323615 ^@ NM_002055.4(GFAP):c.720G>T (p.Thr240=) http://identifiers.org/clinvar/306721 ^@ NM_002465.3(MYBPC1):c.438+9C>G http://identifiers.org/clinvar/312725 ^@ NM_000270.3(PNP):c.-91G>T http://identifiers.org/clinvar/305645 ^@ NM_145200.3(CABP4):c.315C>T (p.His105=) http://identifiers.org/clinvar/312728 ^@ NM_000270.3(PNP):c.66G>C (p.Lys22Asn) http://identifiers.org/clinvar/323624 ^@ NM_002055.4(GFAP):c.342C>A (p.Asp114Glu) http://identifiers.org/clinvar/323629 ^@ NM_002055.4(GFAP):c.42C>T (p.Tyr14=) http://identifiers.org/clinvar/312731 ^@ NM_000270.3(PNP):c.377T>C (p.Val126Ala) http://identifiers.org/clinvar/323630 ^@ NM_002055.4(GFAP):c.-34C>T http://identifiers.org/clinvar/323633 ^@ NM_005910.5(MAPT):c.-310G>T http://identifiers.org/clinvar/323634 ^@ NM_005910.5(MAPT):c.-285A>G http://identifiers.org/clinvar/305652 ^@ NM_145200.3(CABP4):c.522G>A (p.Ser174=) http://identifiers.org/clinvar/323639 ^@ NM_005910.5(MAPT):c.-133C>A http://identifiers.org/clinvar/323640 ^@ NM_005910.5(MAPT):c.-42delC http://identifiers.org/clinvar/306724 ^@ NM_002465.3(MYBPC1):c.557-10C>T http://identifiers.org/clinvar/306728 ^@ NM_002465.3(MYBPC1):c.750C>A (p.Ile250=) http://identifiers.org/clinvar/306730 ^@ NM_002465.3(MYBPC1):c.1250G>A (p.Arg417Lys) http://identifiers.org/clinvar/312732 ^@ NM_000270.3(PNP):c.549G>T (p.Glu183Asp) http://identifiers.org/clinvar/323647 ^@ NM_005910.5(MAPT):c.798G>A (p.Leu266=) http://identifiers.org/clinvar/312734 ^@ NM_000270.3(PNP):c.653-9C>T http://identifiers.org/clinvar/305657 ^@ NM_145200.3(CABP4):c.547G>C (p.Gly183Arg) http://identifiers.org/clinvar/312741 ^@ NM_000270.3(PNP):c.*372G>C http://identifiers.org/clinvar/305661 ^@ NM_145200.3(CABP4):c.816C>T (p.Leu272=) http://identifiers.org/clinvar/323648 ^@ NM_005910.5(MAPT):c.1095C>T (p.Gly365=) http://identifiers.org/clinvar/306733 ^@ NM_002465.3(MYBPC1):c.1553C>T (p.Ala518Val) http://identifiers.org/clinvar/305662 ^@ NM_145200.3(CABP4):c.*26C>T http://identifiers.org/clinvar/323651 ^@ NM_005910.5(MAPT):c.*49G>A http://identifiers.org/clinvar/305665 ^@ NM_145200.3(CABP4):c.*262C>G http://identifiers.org/clinvar/305671 ^@ NM_145200.3(CABP4):c.*876G>A http://identifiers.org/clinvar/323656 ^@ NM_005910.5(MAPT):c.*317dupC http://identifiers.org/clinvar/305672 ^@ NM_145200.3(CABP4):c.*963C>T http://identifiers.org/clinvar/305677 ^@ NM_145200.3(CABP4):c.*1291A>G http://identifiers.org/clinvar/305680 ^@ NM_145200.3(CABP4):c.*1527C>T http://identifiers.org/clinvar/312745 ^@ NM_000270.3(PNP):c.*728T>C http://identifiers.org/clinvar/323667 ^@ NM_005910.5(MAPT):c.*1047C>T http://identifiers.org/clinvar/312748 ^@ NM_000270.3(PNP):c.*816C>T http://identifiers.org/clinvar/312750 ^@ NM_000270.3(PNP):c.*1105dupG http://identifiers.org/clinvar/305690 ^@ NM_145200.3(CABP4):c.*1857delTinsCACACACAC http://identifiers.org/clinvar/323670 ^@ NM_005910.5(MAPT):c.*1108G>A http://identifiers.org/clinvar/305699 ^@ NM_145200.3(CABP4):c.*1859C>T http://identifiers.org/clinvar/305700 ^@ NM_145200.3(CABP4):c.*1878_*1879insTA http://identifiers.org/clinvar/306735 ^@ NM_002465.3(MYBPC1):c.1703T>C (p.Leu568Pro) http://identifiers.org/clinvar/306740 ^@ NM_002465.3(MYBPC1):c.2124G>A (p.Lys708=) http://identifiers.org/clinvar/305702 ^@ NM_145200.3(CABP4):c.*1939A>G http://identifiers.org/clinvar/323673 ^@ NM_001123066.3(MAPT):c.*1152G>C http://identifiers.org/clinvar/305703 ^@ NM_145200.3(CABP4):c.*2065T>G http://identifiers.org/clinvar/323676 ^@ NM_005910.5(MAPT):c.*1396T>C http://identifiers.org/clinvar/323679 ^@ NM_005910.5(MAPT):c.*1465C>T http://identifiers.org/clinvar/305706 ^@ NM_145200.3(CABP4):c.*2176dupA http://identifiers.org/clinvar/323683 ^@ NM_005910.5(MAPT):c.*1737delA http://identifiers.org/clinvar/312752 ^@ NM_000270.3(PNP):c.*1198T>C http://identifiers.org/clinvar/306742 ^@ NM_002465.3(MYBPC1):c.2320T>C (p.Leu774=) http://identifiers.org/clinvar/306766 ^@ NM_153694.4(SYCP3):c.-118T>A http://identifiers.org/clinvar/305707 ^@ NM_145200.3(CABP4):c.*2187G>C http://identifiers.org/clinvar/323687 ^@ NM_005910.5(MAPT):c.*1909_*1910delAG http://identifiers.org/clinvar/305712 ^@ NM_145200.3(CABP4):c.*2331A>G http://identifiers.org/clinvar/323696 ^@ NM_005910.5(MAPT):c.*2289G>A http://identifiers.org/clinvar/305714 ^@ NM_145200.3(CABP4):c.*2583C>T http://identifiers.org/clinvar/312754 ^@ NM_000270.3(PNP):c.*1233T>C http://identifiers.org/clinvar/323699 ^@ NM_005910.5(MAPT):c.*2535_*2538delAGGA http://identifiers.org/clinvar/323703 ^@ NM_005910.5(MAPT):c.*2743delG http://identifiers.org/clinvar/323707 ^@ NM_005910.5(MAPT):c.*2876_*2878delCCT http://identifiers.org/clinvar/305717 ^@ NM_145200.3(CABP4):c.*2709G>A http://identifiers.org/clinvar/305719 ^@ NM_003977.3(AIP):c.-84C>G http://identifiers.org/clinvar/306767 ^@ NM_024312.4(GNPTAB):c.*1632delC http://identifiers.org/clinvar/323708 ^@ NM_005910.5(MAPT):c.*2931G>C http://identifiers.org/clinvar/305720 ^@ NM_003977.3(AIP):c.-23A>G http://identifiers.org/clinvar/323724 ^@ NM_005910.5(MAPT):c.*3810G>A http://identifiers.org/clinvar/323725 ^@ NM_005910.5(MAPT):c.*3817G>A http://identifiers.org/clinvar/323732 ^@ NM_015443.3(KANSL1):c.*1520delA http://identifiers.org/clinvar/305722 ^@ NM_003977.3(AIP):c.-2G>C http://identifiers.org/clinvar/305723 ^@ NM_003977.3(AIP):c.36G>A (p.Gly12=) http://identifiers.org/clinvar/312758 ^@ NM_000270.3(PNP):c.*1391T>C http://identifiers.org/clinvar/323731 ^@ NM_001193466.1(KANSL1):c.*1520dupA http://identifiers.org/clinvar/323736 ^@ NM_015443.3(KANSL1):c.*1354delA http://identifiers.org/clinvar/312762 ^@ NM_001145.4(ANG):c.-530T>C http://identifiers.org/clinvar/312763 ^@ NM_001145.4(ANG):c.-524G>A http://identifiers.org/clinvar/306770 ^@ NM_024312.4(GNPTAB):c.*1390G>C http://identifiers.org/clinvar/323737 ^@ NM_001193466.1(KANSL1):c.*1350A>C http://identifiers.org/clinvar/305725 ^@ NM_003977.3(AIP):c.102C>G (p.Ala34=) http://identifiers.org/clinvar/305729 ^@ NM_003977.3(AIP):c.517G>A (p.Glu173Lys) http://identifiers.org/clinvar/323739 ^@ NM_001193466.1(KANSL1):c.*1306C>G http://identifiers.org/clinvar/306811 ^@ NM_024312.4(GNPTAB):c.1155A>C (p.Ser385=) http://identifiers.org/clinvar/323742 ^@ NM_001193466.1(KANSL1):c.*1234_*1235dupAA http://identifiers.org/clinvar/306812 ^@ NM_024312.4(GNPTAB):c.1113+12T>G http://identifiers.org/clinvar/306813 ^@ NM_024312.4(GNPTAB):c.863T>C (p.Met288Thr) http://identifiers.org/clinvar/306818 ^@ NM_024312.4(GNPTAB):c.348G>A (p.Thr116=) http://identifiers.org/clinvar/305740 ^@ NM_007103.3(NDUFV1):c.205C>T (p.Leu69=) http://identifiers.org/clinvar/305743 ^@ NM_007103.3(NDUFV1):c.333G>T (p.Lys111Asn) http://identifiers.org/clinvar/305746 ^@ NM_007103.3(NDUFV1):c.530A>G (p.Tyr177Cys) http://identifiers.org/clinvar/312764 ^@ NM_001145.4(ANG):c.-423C>T http://identifiers.org/clinvar/323741 ^@ NM_015443.3(KANSL1):c.*1235dupA http://identifiers.org/clinvar/323744 ^@ NM_001193466.1(KANSL1):c.*1103dupT http://identifiers.org/clinvar/312767 ^@ NM_001145.4(ANG):c.-381C>T http://identifiers.org/clinvar/312772 ^@ NM_001145.4(ANG):c.-19+11A>C http://identifiers.org/clinvar/312773 ^@ NM_001145.4(ANG):c.99C>T (p.Phe33=) http://identifiers.org/clinvar/305755 ^@ NM_007103.3(NDUFV1):c.1188G>A (p.Met396Ile) http://identifiers.org/clinvar/323745 ^@ NM_001193466.1(KANSL1):c.*1028T>C http://identifiers.org/clinvar/312778 ^@ NM_001145.4(ANG):c.*10C>T http://identifiers.org/clinvar/312779 ^@ NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) http://identifiers.org/clinvar/306823 ^@ NM_024312.4(GNPTAB):c.42G>C (p.Leu14=) http://identifiers.org/clinvar/306826 ^@ NM_024312.4(GNPTAB):c.-157C>A http://identifiers.org/clinvar/306828 ^@ NM_000618.4(IGF1):c.*6598T>C http://identifiers.org/clinvar/312782 ^@ NM_020366.3(RPGRIP1):c.640A>C (p.Lys214Gln) http://identifiers.org/clinvar/306829 ^@ NM_000618.4(IGF1):c.*6490_*6493delGACTinsCTAAAATGTAACTAATTGAATA http://identifiers.org/clinvar/305757 ^@ NM_007103.3(NDUFV1):c.1353G>T (p.Gln451His) http://identifiers.org/clinvar/323747 ^@ NM_001193466.1(KANSL1):c.*1022C>G http://identifiers.org/clinvar/323748 ^@ NM_001193466.1(KANSL1):c.*954C>G http://identifiers.org/clinvar/323754 ^@ NM_001193466.1(KANSL1):c.*626T>C http://identifiers.org/clinvar/305763 ^@ NM_002496.3(NDUFS8):c.133G>A (p.Glu45Lys) http://identifiers.org/clinvar/306832 ^@ NM_000618.4(IGF1):c.*6243A>T http://identifiers.org/clinvar/306833 ^@ NM_000618.4(IGF1):c.*6227G>C http://identifiers.org/clinvar/305765 ^@ NM_002496.3(NDUFS8):c.199+15T>G http://identifiers.org/clinvar/323758 ^@ NM_001193466.1(KANSL1):c.*359_*360insAGAGGGC http://identifiers.org/clinvar/323760 ^@ NM_001193466.1(KANSL1):c.*34_*37delTATT http://identifiers.org/clinvar/305773 ^@ NM_002496.3(NDUFS8):c.598G>A (p.Ala200Thr) http://identifiers.org/clinvar/312785 ^@ NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) http://identifiers.org/clinvar/323768 ^@ NM_001193466.1(KANSL1):c.2547G>A (p.Gln849=) http://identifiers.org/clinvar/323770 ^@ NM_001193466.1(KANSL1):c.2441C>G (p.Thr814Ser) http://identifiers.org/clinvar/323775 ^@ NM_001193466.1(KANSL1):c.2128C>A (p.Pro710Thr) http://identifiers.org/clinvar/312795 ^@ NM_020366.3(RPGRIP1):c.2700A>C (p.Glu900Asp) http://identifiers.org/clinvar/312801 ^@ NM_020366.3(RPGRIP1):c.3748+17dupT http://identifiers.org/clinvar/323776 ^@ NM_001193466.1(KANSL1):c.1945C>G (p.His649Asp) http://identifiers.org/clinvar/323780 ^@ NM_001193466.1(KANSL1):c.1653-6G>A http://identifiers.org/clinvar/323783 ^@ NM_001193466.1(KANSL1):c.1166C>T (p.Ala389Val) http://identifiers.org/clinvar/323785 ^@ NM_001193466.1(KANSL1):c.1011C>G (p.Ser337=) http://identifiers.org/clinvar/312804 ^@ NM_020366.3(RPGRIP1):c.*81A>G http://identifiers.org/clinvar/312814 ^@ NM_001126106.2(SLC7A7):c.1170G>C (p.Trp390Cys) http://identifiers.org/clinvar/306836 ^@ NM_000618.4(IGF1):c.*6093G>A http://identifiers.org/clinvar/323787 ^@ NM_001193466.1(KANSL1):c.741A>G (p.Arg247=) http://identifiers.org/clinvar/305778 ^@ NM_006019.3(TCIRG1):c.-128G>C http://identifiers.org/clinvar/323795 ^@ NM_001193466.1(KANSL1):c.431G>A (p.Ser144Asn) http://identifiers.org/clinvar/323797 ^@ NM_001193466.1(KANSL1):c.311A>C (p.Lys104Thr) http://identifiers.org/clinvar/305781 ^@ NM_006019.3(TCIRG1):c.123C>T (p.Asn41=) http://identifiers.org/clinvar/306837 ^@ NM_000618.4(IGF1):c.*5844A>C http://identifiers.org/clinvar/323798 ^@ NM_001193466.1(KANSL1):c.286T>C (p.Leu96=) http://identifiers.org/clinvar/323800 ^@ NM_001193466.1(KANSL1):c.-54C>T http://identifiers.org/clinvar/312815 ^@ NM_001126106.2(SLC7A7):c.1128A>C (p.Glu376Asp) http://identifiers.org/clinvar/312822 ^@ NM_001126106.2(SLC7A7):c.595A>G (p.Ile199Val) http://identifiers.org/clinvar/305798 ^@ NM_006019.3(TCIRG1):c.1097G>A (p.Arg366His) http://identifiers.org/clinvar/305809 ^@ NM_006019.3(TCIRG1):c.1673+13G>A http://identifiers.org/clinvar/305811 ^@ NM_006019.3(TCIRG1):c.1800C>T (p.Ala600=) http://identifiers.org/clinvar/306838 ^@ NM_000618.4(IGF1):c.*5718dupA http://identifiers.org/clinvar/306840 ^@ NM_000618.4(IGF1):c.*5505T>A http://identifiers.org/clinvar/323808 ^@ NM_001193466.1(KANSL1):c.-407T>C http://identifiers.org/clinvar/323814 ^@ NM_030753.4(WNT3):c.800A>G (p.Lys267Arg) http://identifiers.org/clinvar/306848 ^@ NM_000618.4(IGF1):c.*4699C>G http://identifiers.org/clinvar/305813 ^@ NM_006019.3(TCIRG1):c.1904C>T (p.Thr635Met) http://identifiers.org/clinvar/312837 ^@ NM_001126106.2(SLC7A7):c.-264C>T http://identifiers.org/clinvar/312850 ^@ NM_002471.3(MYH6):c.4695A>G (p.Leu1565=) http://identifiers.org/clinvar/306853 ^@ NM_000618.4(IGF1):c.*4484delT http://identifiers.org/clinvar/305831 ^@ NM_002180.2(IGHMBP2):c.222C>A (p.Ser74=) http://identifiers.org/clinvar/323827 ^@ NM_004287.4(GOSR2):c.*18G>T http://identifiers.org/clinvar/323829 ^@ NM_004287.4(GOSR2):c.*286G>T http://identifiers.org/clinvar/305832 ^@ NM_002180.2(IGHMBP2):c.366C>T (p.His122=) http://identifiers.org/clinvar/305834 ^@ NM_002180.2(IGHMBP2):c.696G>T (p.Val232=) http://identifiers.org/clinvar/312852 ^@ NM_002471.3(MYH6):c.4167A>G (p.Glu1389=) http://identifiers.org/clinvar/323832 ^@ NM_004287.4(GOSR2):c.*412C>A http://identifiers.org/clinvar/305836 ^@ NM_002180.2(IGHMBP2):c.726C>A (p.Ala242=) http://identifiers.org/clinvar/305837 ^@ NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) http://identifiers.org/clinvar/305840 ^@ NM_002180.2(IGHMBP2):c.963T>C (p.Asn321=) http://identifiers.org/clinvar/312855 ^@ NM_002471.3(MYH6):c.3979-10C>G http://identifiers.org/clinvar/323833 ^@ NM_004287.4(GOSR2):c.*804A>G http://identifiers.org/clinvar/323839 ^@ NM_004287.4(GOSR2):c.*1377G>A http://identifiers.org/clinvar/312857 ^@ NM_002471.3(MYH6):c.3979-11C>G http://identifiers.org/clinvar/312858 ^@ NM_002471.3(MYH6):c.3979-12C>A http://identifiers.org/clinvar/306859 ^@ NM_000618.4(IGF1):c.*4368C>T http://identifiers.org/clinvar/306860 ^@ NM_000618.4(IGF1):c.*4107T>C http://identifiers.org/clinvar/312859 ^@ NM_002471.3(MYH6):c.3979-14C>A http://identifiers.org/clinvar/306867 ^@ NM_000618.4(IGF1):c.*3615T>G http://identifiers.org/clinvar/312861 ^@ NM_002471.3(MYH6):c.3583C>T (p.Arg1195Cys) http://identifiers.org/clinvar/312865 ^@ NM_002471.3(MYH6):c.3421C>T (p.Leu1141=) http://identifiers.org/clinvar/306868 ^@ NM_000618.4(IGF1):c.*3552C>T http://identifiers.org/clinvar/323846 ^@ NM_004287.4(GOSR2):c.*1733A>G http://identifiers.org/clinvar/323847 ^@ NM_004287.4(GOSR2):c.*2057C>T http://identifiers.org/clinvar/323850 ^@ NM_004287.4(GOSR2):c.*2192T>G http://identifiers.org/clinvar/312867 ^@ NM_002471.3(MYH6):c.2685+15T>C http://identifiers.org/clinvar/323853 ^@ NM_004287.4(GOSR2):c.*2253C>T http://identifiers.org/clinvar/312870 ^@ NM_002471.3(MYH6):c.2440C>A (p.Leu814Met) http://identifiers.org/clinvar/312876 ^@ NM_002471.3(MYH6):c.1716G>A (p.Gly572=) http://identifiers.org/clinvar/306871 ^@ NM_000618.4(IGF1):c.*3398_*3399delCA http://identifiers.org/clinvar/306876 ^@ NM_000618.4(IGF1):c.*3360G>C http://identifiers.org/clinvar/305846 ^@ NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) http://identifiers.org/clinvar/323856 ^@ NM_004287.4(GOSR2):c.*2293G>A http://identifiers.org/clinvar/305848 ^@ NM_002180.2(IGHMBP2):c.1874C>T (p.Thr625Ile) http://identifiers.org/clinvar/323857 ^@ NM_004287.4(GOSR2):c.*2336A>T http://identifiers.org/clinvar/312881 ^@ NM_002471.3(MYH6):c.899-15C>T http://identifiers.org/clinvar/312882 ^@ NM_002471.3(MYH6):c.675C>T (p.Asn225=) http://identifiers.org/clinvar/306882 ^@ NM_000618.4(IGF1):c.*2499T>G http://identifiers.org/clinvar/323860 ^@ NM_004287.4(GOSR2):c.*2573G>A http://identifiers.org/clinvar/323863 ^@ NM_000212.2(ITGB3):c.58C>T (p.Leu20=) http://identifiers.org/clinvar/306888 ^@ NM_000618.4(IGF1):c.*2362A>G http://identifiers.org/clinvar/306890 ^@ NM_000618.4(IGF1):c.*2266T>C http://identifiers.org/clinvar/305851 ^@ NM_002180.2(IGHMBP2):c.2224A>G (p.Met742Val) http://identifiers.org/clinvar/312889 ^@ NM_000257.3(MYH7):c.5482G>A (p.Ala1828Thr) http://identifiers.org/clinvar/323865 ^@ NM_000212.2(ITGB3):c.985A>G (p.Asn329Asp) http://identifiers.org/clinvar/312890 ^@ NM_000257.3(MYH7):c.5394C>T (p.Asp1798=) http://identifiers.org/clinvar/305854 ^@ NM_002180.2(IGHMBP2):c.2361G>A (p.Pro787=) http://identifiers.org/clinvar/306891 ^@ NM_000618.4(IGF1):c.*2195G>A http://identifiers.org/clinvar/305856 ^@ NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) http://identifiers.org/clinvar/312897 ^@ NM_000257.3(MYH7):c.4372C>T (p.Gln1458Ter) http://identifiers.org/clinvar/312898 ^@ NM_000257.3(MYH7):c.4169+6T>G http://identifiers.org/clinvar/306893 ^@ NM_000618.4(IGF1):c.*1753C>A http://identifiers.org/clinvar/306898 ^@ NM_000618.4(IGF1):c.*1033A>G http://identifiers.org/clinvar/305857 ^@ NM_002180.2(IGHMBP2):c.2612-15G>A http://identifiers.org/clinvar/305862 ^@ NM_002180.2(IGHMBP2):c.2787C>G (p.Ile929Met) http://identifiers.org/clinvar/305866 ^@ NM_002180.2(IGHMBP2):c.*6C>T http://identifiers.org/clinvar/306899 ^@ NM_000618.4(IGF1):c.*753_*754delAA http://identifiers.org/clinvar/312904 ^@ NM_000257.3(MYH7):c.2968G>A (p.Ala990Thr) http://identifiers.org/clinvar/306902 ^@ NM_000618.4(IGF1):c.*278_*279dupAT http://identifiers.org/clinvar/305867 ^@ NM_002180.2(IGHMBP2):c.*117G>A http://identifiers.org/clinvar/312907 ^@ NM_000257.3(MYH7):c.2922+6G>C http://identifiers.org/clinvar/323866 ^@ NM_000212.2(ITGB3):c.1299C>T (p.Pro433=) http://identifiers.org/clinvar/312910 ^@ NM_000257.3(MYH7):c.2028T>C (p.Asn676=) http://identifiers.org/clinvar/323877 ^@ NM_000212.2(ITGB3):c.*271C>G http://identifiers.org/clinvar/312913 ^@ NM_000257.3(MYH7):c.1179C>T (p.Ala393=) http://identifiers.org/clinvar/305870 ^@ NM_002180.2(IGHMBP2):c.*417C>A http://identifiers.org/clinvar/323879 ^@ NM_000212.2(ITGB3):c.*460A>G http://identifiers.org/clinvar/312916 ^@ NM_000257.3(MYH7):c.1000-13G>T http://identifiers.org/clinvar/323883 ^@ NM_000212.2(ITGB3):c.*639G>A http://identifiers.org/clinvar/323892 ^@ NM_000212.2(ITGB3):c.*1154G>A http://identifiers.org/clinvar/323893 ^@ NM_000212.2(ITGB3):c.*1236_*1240delATTTT http://identifiers.org/clinvar/306910 ^@ NM_000277.1(PAH):c.*735T>C http://identifiers.org/clinvar/306915 ^@ NM_000277.1(PAH):c.-73C>G http://identifiers.org/clinvar/312922 ^@ NM_000257.3(MYH7):c.-62C>T http://identifiers.org/clinvar/323896 ^@ NM_000212.2(ITGB3):c.*1527A>G http://identifiers.org/clinvar/312926 ^@ NM_006177.3(NRL):c.*935C>T http://identifiers.org/clinvar/312929 ^@ NM_006177.3(NRL):c.*780G>C http://identifiers.org/clinvar/323898 ^@ NM_000212.2(ITGB3):c.*1714T>C http://identifiers.org/clinvar/306916 ^@ NM_000277.1(PAH):c.-81C>T http://identifiers.org/clinvar/306918 ^@ NM_000277.1(PAH):c.-231C>G http://identifiers.org/clinvar/323900 ^@ NM_000212.2(ITGB3):c.*1817T>A http://identifiers.org/clinvar/306930 ^@ NM_018082.5(POLR3B):c.773A>C (p.Glu258Ala) http://identifiers.org/clinvar/306935 ^@ NM_018082.5(POLR3B):c.1464+14G>A http://identifiers.org/clinvar/323903 ^@ NM_000212.2(ITGB3):c.*1985T>C http://identifiers.org/clinvar/323905 ^@ NM_000212.2(ITGB3):c.*2327G>A http://identifiers.org/clinvar/323928 ^@ NM_018129.3(PNPO):c.*945C>T http://identifiers.org/clinvar/305874 ^@ NM_002180.2(IGHMBP2):c.*648G>A http://identifiers.org/clinvar/305877 ^@ NM_002180.2(IGHMBP2):c.*681T>C http://identifiers.org/clinvar/312930 ^@ NM_006177.3(NRL):c.*667C>T http://identifiers.org/clinvar/323932 ^@ NM_018129.3(PNPO):c.*1151C>T http://identifiers.org/clinvar/323934 ^@ NM_018129.3(PNPO):c.*1580G>A http://identifiers.org/clinvar/305886 ^@ NM_012309.4(SHANK2):c.912+7884G>A http://identifiers.org/clinvar/305891 ^@ NM_012309.4(SHANK2):c.912+6183T>G http://identifiers.org/clinvar/306938 ^@ NM_018082.5(POLR3B):c.1873T>C (p.Leu625=) http://identifiers.org/clinvar/306941 ^@ NM_018082.5(POLR3B):c.2084-15C>T http://identifiers.org/clinvar/305908 ^@ NM_012309.4(SHANK2):c.771A>G (p.Pro257=) http://identifiers.org/clinvar/305911 ^@ NM_012309.4(SHANK2):c.722C>T (p.Ala241Val) http://identifiers.org/clinvar/306947 ^@ NM_018082.5(POLR3B):c.2877C>T (p.His959=) http://identifiers.org/clinvar/306951 ^@ NM_018082.5(POLR3B):c.3273-7G>A http://identifiers.org/clinvar/305914 ^@ NM_012309.4(SHANK2):c.581C>T (p.Pro194Leu) http://identifiers.org/clinvar/305916 ^@ NM_012309.4(SHANK2):c.520C>T (p.Arg174Cys) http://identifiers.org/clinvar/305919 ^@ NM_012309.4(SHANK2):c.397G>T (p.Val133Phe) http://identifiers.org/clinvar/305924 ^@ NM_012309.4(SHANK2):c.256C>A (p.Arg86=) http://identifiers.org/clinvar/323935 ^@ NM_018129.3(PNPO):c.*1668G>A http://identifiers.org/clinvar/305925 ^@ NM_012309.4(SHANK2):c.207+15C>T http://identifiers.org/clinvar/323936 ^@ NM_018129.3(PNPO):c.*1757G>T http://identifiers.org/clinvar/323941 ^@ NM_018129.3(PNPO):c.*2490C>T http://identifiers.org/clinvar/323942 ^@ NM_000080.3(CHRNE):c.*930T>G http://identifiers.org/clinvar/306959 ^@ NM_018082.5(POLR3B):c.*565G>A http://identifiers.org/clinvar/306962 ^@ NM_018082.5(POLR3B):c.*587G>C http://identifiers.org/clinvar/312933 ^@ NM_006177.3(NRL):c.*472C>T http://identifiers.org/clinvar/323953 ^@ NM_000080.3(CHRNE):c.*806G>A http://identifiers.org/clinvar/323956 ^@ NM_000080.3(CHRNE):c.*754_*757delGGAG http://identifiers.org/clinvar/312937 ^@ NM_006177.3(NRL):c.*173A>T http://identifiers.org/clinvar/323960 ^@ NM_000080.3(CHRNE):c.*622C>T http://identifiers.org/clinvar/306966 ^@ NM_080911.2(UNG):c.81C>A (p.Ala27=) http://identifiers.org/clinvar/323964 ^@ NM_000080.3(CHRNE):c.*572C>G http://identifiers.org/clinvar/305926 ^@ NM_012309.4(SHANK2):c.191A>G (p.His64Arg) http://identifiers.org/clinvar/305928 ^@ NM_012309.4(SHANK2):c.136G>A (p.Gly46Ser) http://identifiers.org/clinvar/312942 ^@ NM_006177.3(NRL):c.-25G>C http://identifiers.org/clinvar/323974 ^@ NM_000080.3(CHRNE):c.*65C>T http://identifiers.org/clinvar/312945 ^@ NM_001099274.1(TINF2):c.1290C>G (p.Pro430=) http://identifiers.org/clinvar/323977 ^@ NM_000080.3(CHRNE):c.1374C>T (p.Cys458=) http://identifiers.org/clinvar/306968 ^@ NM_080911.2(UNG):c.204C>G (p.Ala68=) http://identifiers.org/clinvar/306970 ^@ NM_080911.2(UNG):c.231C>G (p.Asn77Lys) http://identifiers.org/clinvar/305935 ^@ NM_001360.2(DHCR7):c.*761A>T http://identifiers.org/clinvar/305940 ^@ NM_001360.2(DHCR7):c.*643C>T http://identifiers.org/clinvar/312946 ^@ NM_001099274.1(TINF2):c.1140G>A (p.Pro380=) http://identifiers.org/clinvar/306971 ^@ NM_080911.2(UNG):c.435+15T>A http://identifiers.org/clinvar/306973 ^@ NM_080911.2(UNG):c.533+6G>A http://identifiers.org/clinvar/323982 ^@ NM_000080.3(CHRNE):c.1220-5G>A http://identifiers.org/clinvar/306978 ^@ NM_080911.2(UNG):c.769T>C (p.Tyr257His) http://identifiers.org/clinvar/312949 ^@ NM_001099274.1(TINF2):c.771C>T (p.His257=) http://identifiers.org/clinvar/323983 ^@ NM_000080.3(CHRNE):c.1071G>A (p.Pro357=) http://identifiers.org/clinvar/323994 ^@ NM_000080.3(CHRNE):c.510G>A (p.Thr170=) http://identifiers.org/clinvar/324133 ^@ NM_053013.3(ENO3):c.-88G>A http://identifiers.org/clinvar/305941 ^@ NM_001360.2(DHCR7):c.*480C>T http://identifiers.org/clinvar/312954 ^@ NM_001099274.1(TINF2):c.400-5delT http://identifiers.org/clinvar/305944 ^@ NM_001360.2(DHCR7):c.*424G>A http://identifiers.org/clinvar/312959 ^@ NM_001099274.1(TINF2):c.-91C>T http://identifiers.org/clinvar/324140 ^@ NM_053013.3(ENO3):c.417G>A (p.Gly139=) http://identifiers.org/clinvar/324145 ^@ NM_053013.3(ENO3):c.789G>A (p.Ser263=) http://identifiers.org/clinvar/305946 ^@ NM_001360.2(DHCR7):c.*324C>T http://identifiers.org/clinvar/305949 ^@ NM_001360.2(DHCR7):c.*119G>A http://identifiers.org/clinvar/324149 ^@ NM_053013.3(ENO3):c.994G>A (p.Val332Ile) http://identifiers.org/clinvar/323999 ^@ NM_005220.2(DLX3):c.*1505G>A http://identifiers.org/clinvar/324009 ^@ NM_005220.2(DLX3):c.*1167_*1168delAA http://identifiers.org/clinvar/305950 ^@ NM_001360.2(DHCR7):c.*25G>A http://identifiers.org/clinvar/305952 ^@ NM_001360.2(DHCR7):c.1381C>T (p.Arg461Cys) http://identifiers.org/clinvar/312964 ^@ NM_001099274.1(TINF2):c.-225G>A http://identifiers.org/clinvar/324010 ^@ NM_005220.2(DLX3):c.*1016G>C http://identifiers.org/clinvar/312968 ^@ NM_001099274.1(TINF2):c.-316G>A http://identifiers.org/clinvar/324013 ^@ NM_005220.2(DLX3):c.*928A>G http://identifiers.org/clinvar/306982 ^@ NM_080911.2(UNG):c.*281C>T http://identifiers.org/clinvar/324019 ^@ NM_005220.2(DLX3):c.*83G>A http://identifiers.org/clinvar/324020 ^@ NM_005220.2(DLX3):c.846C>A (p.Asn282Lys) http://identifiers.org/clinvar/305954 ^@ NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) http://identifiers.org/clinvar/324024 ^@ NM_005220.2(DLX3):c.465G>A (p.Ala155=) http://identifiers.org/clinvar/324025 ^@ NM_005220.2(DLX3):c.252G>A (p.Ser84=) http://identifiers.org/clinvar/324026 ^@ NM_005220.2(DLX3):c.140A>G (p.Gln47Arg) http://identifiers.org/clinvar/305958 ^@ NM_001360.2(DHCR7):c.289G>A (p.Ala97Thr) http://identifiers.org/clinvar/305964 ^@ NM_001360.2(DHCR7):c.-35C>T http://identifiers.org/clinvar/306984 ^@ NM_080911.2(UNG):c.*463C>T http://identifiers.org/clinvar/324028 ^@ NM_005220.2(DLX3):c.-64C>T http://identifiers.org/clinvar/306987 ^@ NM_080911.2(UNG):c.*537G>A http://identifiers.org/clinvar/312972 ^@ NM_000359.2(TGM1):c.2121T>C (p.Cys707=) http://identifiers.org/clinvar/306990 ^@ NM_080911.2(UNG):c.*655A>C http://identifiers.org/clinvar/324032 ^@ NM_005220.2(DLX3):c.-134C>A http://identifiers.org/clinvar/305974 ^@ NM_001145308.4(LRTOMT):c.-705A>G http://identifiers.org/clinvar/305975 ^@ NM_001145308.4(LRTOMT):c.-602G>A http://identifiers.org/clinvar/312975 ^@ NM_000359.2(TGM1):c.1966C>T (p.Arg656Trp) http://identifiers.org/clinvar/324039 ^@ NM_000023.3(SGCA):c.-18G>A http://identifiers.org/clinvar/305979 ^@ NM_001145308.4(LRTOMT):c.-409G>A http://identifiers.org/clinvar/324041 ^@ NM_000023.3(SGCA):c.158-11G>A http://identifiers.org/clinvar/324042 ^@ NM_000023.3(SGCA):c.158-10C>G http://identifiers.org/clinvar/312977 ^@ NM_000359.2(TGM1):c.1762G>A (p.Ala588Thr) http://identifiers.org/clinvar/312980 ^@ NM_000359.2(TGM1):c.1143T>G (p.Ala381=) http://identifiers.org/clinvar/306991 ^@ NM_080911.2(UNG):c.*699T>C http://identifiers.org/clinvar/324043 ^@ NM_000023.3(SGCA):c.648C>T (p.Pro216=) http://identifiers.org/clinvar/324046 ^@ NM_000023.3(SGCA):c.*10C>G http://identifiers.org/clinvar/306996 ^@ NM_080911.2(UNG):c.*876_*881delATATAT http://identifiers.org/clinvar/306999 ^@ NM_080911.2(UNG):c.*1018A>G http://identifiers.org/clinvar/305981 ^@ NM_001145308.4(LRTOMT):c.-344G>A http://identifiers.org/clinvar/324049 ^@ NM_000023.3(SGCA):c.*134delA http://identifiers.org/clinvar/324051 ^@ NM_000023.3(SGCA):c.*166A>G http://identifiers.org/clinvar/324053 ^@ NM_000088.3(COL1A1):c.*1384_*1387delATGT http://identifiers.org/clinvar/324062 ^@ NM_000088.3(COL1A1):c.*1030_*1031delGA http://identifiers.org/clinvar/324063 ^@ NM_000088.3(COL1A1):c.*1029_*1031delGGA http://identifiers.org/clinvar/324066 ^@ NM_000088.3(COL1A1):c.*1027delG http://identifiers.org/clinvar/324067 ^@ NM_000088.3(COL1A1):c.*1007_*1008delCT http://identifiers.org/clinvar/324074 ^@ NM_000088.3(COL1A1):c.*714C>T http://identifiers.org/clinvar/324076 ^@ NM_000088.3(COL1A1):c.*681_*682insAGCA http://identifiers.org/clinvar/307001 ^@ NM_052845.3(MMAB):c.*3178C>A http://identifiers.org/clinvar/307005 ^@ NM_052845.3(MMAB):c.*2950C>T http://identifiers.org/clinvar/312981 ^@ NM_000359.2(TGM1):c.1113C>T (p.Ser371=) http://identifiers.org/clinvar/324078 ^@ NM_000088.3(COL1A1):c.*623G>A http://identifiers.org/clinvar/312984 ^@ NM_000359.2(TGM1):c.791G>A (p.Arg264Gln) http://identifiers.org/clinvar/307008 ^@ NM_052845.3(MMAB):c.*2740G>A http://identifiers.org/clinvar/312992 ^@ NM_000359.2(TGM1):c.319+9G>A http://identifiers.org/clinvar/307009 ^@ NM_052845.3(MMAB):c.*2701G>C http://identifiers.org/clinvar/305982 ^@ NM_001145308.4(LRTOMT):c.-322+5G>A http://identifiers.org/clinvar/305984 ^@ NM_001145308.4(LRTOMT):c.-256C>G http://identifiers.org/clinvar/324080 ^@ NM_000088.3(COL1A1):c.*378C>G http://identifiers.org/clinvar/324081 ^@ NM_000088.3(COL1A1):c.*259_*260insAT http://identifiers.org/clinvar/312996 ^@ NM_000359.2(TGM1):c.97G>A (p.Gly33Arg) http://identifiers.org/clinvar/312998 ^@ NM_000359.2(TGM1):c.-24C>T http://identifiers.org/clinvar/324084 ^@ NM_000088.3(COL1A1):c.*255dupA http://identifiers.org/clinvar/324087 ^@ NM_000088.3(COL1A1):c.*245delG http://identifiers.org/clinvar/305985 ^@ NM_001145308.4(LRTOMT):c.-254G>T http://identifiers.org/clinvar/305989 ^@ NM_001145308.4(LRTOMT):c.-16delC http://identifiers.org/clinvar/305991 ^@ NM_001145308.4(LRTOMT):c.209G>A (p.Arg70Gln) http://identifiers.org/clinvar/307017 ^@ NM_052845.3(MMAB):c.*2186T>C http://identifiers.org/clinvar/324092 ^@ NM_000088.3(COL1A1):c.*194G>A http://identifiers.org/clinvar/307018 ^@ NM_052845.3(MMAB):c.*2023C>T http://identifiers.org/clinvar/324096 ^@ NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His) http://identifiers.org/clinvar/324105 ^@ NM_000088.3(COL1A1):c.3099+7T>C http://identifiers.org/clinvar/324106 ^@ NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser) http://identifiers.org/clinvar/324110 ^@ NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly) http://identifiers.org/clinvar/324113 ^@ NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) http://identifiers.org/clinvar/305996 ^@ NM_001145308.4(LRTOMT):c.585C>T (p.Asp195=) http://identifiers.org/clinvar/305997 ^@ NM_001145308.4(LRTOMT):c.592C>T (p.Pro198Ser) http://identifiers.org/clinvar/307027 ^@ NM_052845.3(MMAB):c.*1685G>A http://identifiers.org/clinvar/324132 ^@ NM_000088.3(COL1A1):c.-115G>A http://identifiers.org/clinvar/307028 ^@ NM_052845.3(MMAB):c.*1683G>A http://identifiers.org/clinvar/307039 ^@ NM_052845.3(MMAB):c.*1230G>T http://identifiers.org/clinvar/324154 ^@ NM_017777.3(MKS1):c.*414C>T http://identifiers.org/clinvar/324160 ^@ NM_017777.3(MKS1):c.1253T>C (p.Val418Ala) http://identifiers.org/clinvar/324163 ^@ NM_017777.3(MKS1):c.763G>T (p.Gly255Trp) http://identifiers.org/clinvar/305998 ^@ NM_001145308.4(LRTOMT):c.649C>T (p.Arg217Trp) http://identifiers.org/clinvar/306000 ^@ NM_001145308.4(LRTOMT):c.784C>T (p.Arg262Cys) http://identifiers.org/clinvar/313004 ^@ NM_004086.2(COCH):c.1204A>G (p.Ile402Val) http://identifiers.org/clinvar/324166 ^@ NM_017777.3(MKS1):c.491G>A (p.Arg164His) http://identifiers.org/clinvar/313006 ^@ NM_004086.2(COCH):c.*10T>A http://identifiers.org/clinvar/324180 ^@ NM_015294.4(TRIM37):c.*759T>C http://identifiers.org/clinvar/306001 ^@ NM_001145308.4(LRTOMT):c.797G>A (p.Arg266His) http://identifiers.org/clinvar/306005 ^@ NM_001145308.4(LRTOMT):c.*264_*265delCT http://identifiers.org/clinvar/313009 ^@ NM_004086.2(COCH):c.*58A>G http://identifiers.org/clinvar/324183 ^@ NM_015294.4(TRIM37):c.*622T>C http://identifiers.org/clinvar/324190 ^@ NM_015294.4(TRIM37):c.2754T>C (p.His918=) http://identifiers.org/clinvar/313010 ^@ NM_004086.2(COCH):c.*275C>T http://identifiers.org/clinvar/313020 ^@ NM_025152.2(NUBPL):c.109-11A>T http://identifiers.org/clinvar/307043 ^@ NM_052845.3(MMAB):c.*1067C>T http://identifiers.org/clinvar/324199 ^@ NM_015294.4(TRIM37):c.1446C>T (p.Leu482=) http://identifiers.org/clinvar/306007 ^@ NM_001145308.4(LRTOMT):c.*379C>T http://identifiers.org/clinvar/324202 ^@ NM_015294.4(TRIM37):c.1178A>G (p.Gln393Arg) http://identifiers.org/clinvar/324203 ^@ NM_015294.4(TRIM37):c.943-7_943-5delCTT http://identifiers.org/clinvar/306010 ^@ NM_001145308.4(LRTOMT):c.*622C>T http://identifiers.org/clinvar/313023 ^@ NM_025152.2(NUBPL):c.286G>A (p.Asp96Asn) http://identifiers.org/clinvar/313039 ^@ NM_025152.2(NUBPL):c.*444C>T http://identifiers.org/clinvar/306011 ^@ NM_001145308.4(LRTOMT):c.*877T>C http://identifiers.org/clinvar/313042 ^@ NM_025152.2(NUBPL):c.*561G>A http://identifiers.org/clinvar/313045 ^@ NM_025152.2(NUBPL):c.*905A>C http://identifiers.org/clinvar/307044 ^@ NM_052845.3(MMAB):c.*1005A>G http://identifiers.org/clinvar/307045 ^@ NM_052845.3(MMAB):c.*961G>A http://identifiers.org/clinvar/307053 ^@ NM_052845.3(MMAB):c.*625G>C http://identifiers.org/clinvar/313046 ^@ NM_025152.2(NUBPL):c.*995T>C http://identifiers.org/clinvar/324205 ^@ NM_015294.4(TRIM37):c.828C>T (p.Tyr276=) http://identifiers.org/clinvar/313049 ^@ NM_025152.2(NUBPL):c.*1053G>A http://identifiers.org/clinvar/324207 ^@ NM_015294.4(TRIM37):c.810-3delT http://identifiers.org/clinvar/307055 ^@ NM_052845.3(MMAB):c.*554G>A http://identifiers.org/clinvar/307056 ^@ NM_052845.3(MMAB):c.*509C>T http://identifiers.org/clinvar/313054 ^@ NM_025152.2(NUBPL):c.*1122_*1124delCAA http://identifiers.org/clinvar/306015 ^@ NM_001145308.4(LRTOMT):c.*1265A>G http://identifiers.org/clinvar/324214 ^@ NM_015294.4(TRIM37):c.-230C>T http://identifiers.org/clinvar/306016 ^@ NM_001145308.4(LRTOMT):c.*1363C>A http://identifiers.org/clinvar/307064 ^@ NM_052845.3(MMAB):c.*378_*379delTG http://identifiers.org/clinvar/307071 ^@ NM_052845.3(MMAB):c.*378T>A http://identifiers.org/clinvar/307069 ^@ NM_052845.3(MMAB):c.*366_*378delTGTGTGTGTGTGTinsAGA http://identifiers.org/clinvar/324217 ^@ NM_015294.4(TRIM37):c.-334C>G http://identifiers.org/clinvar/307081 ^@ NM_052845.3(MMAB):c.378G>T (p.Ser126=) http://identifiers.org/clinvar/324219 ^@ NM_015294.4(TRIM37):c.-340T>G http://identifiers.org/clinvar/313056 ^@ NM_025152.2(NUBPL):c.*1144_*1147delAAAA http://identifiers.org/clinvar/313057 ^@ NM_025152.2(NUBPL):c.*1145_*1148delAAAG http://identifiers.org/clinvar/324226 ^@ NM_000717.4(CA4):c.204A>G (p.Gly68=) http://identifiers.org/clinvar/324227 ^@ NM_000717.4(CA4):c.210C>A (p.Phe70Leu) http://identifiers.org/clinvar/313063 ^@ NM_025152.2(NUBPL):c.*1260T>C http://identifiers.org/clinvar/307084 ^@ NM_052845.3(MMAB):c.-49G>A http://identifiers.org/clinvar/313066 ^@ NM_025152.2(NUBPL):c.*1619C>T http://identifiers.org/clinvar/307085 ^@ NM_052845.3(MMAB):c.-69G>A http://identifiers.org/clinvar/306018 ^@ NM_001145308.4(LRTOMT):c.*1581C>T http://identifiers.org/clinvar/307090 ^@ NM_000431.3(MVK):c.-15+11G>A http://identifiers.org/clinvar/307095 ^@ NM_000431.3(MVK):c.371+13T>C http://identifiers.org/clinvar/306023 ^@ NM_016725.2(FOLR1):c.-8-6C>T http://identifiers.org/clinvar/324237 ^@ NM_000717.4(CA4):c.761A>C (p.Gln254Pro) http://identifiers.org/clinvar/324238 ^@ NM_000717.4(CA4):c.807T>C (p.Asn269=) http://identifiers.org/clinvar/313071 ^@ NM_025152.2(NUBPL):c.*1840A>G http://identifiers.org/clinvar/313072 ^@ NM_025152.2(NUBPL):c.*1874A>G http://identifiers.org/clinvar/324246 ^@ NM_018488.3(TBX4):c.172G>A (p.Ala58Thr) http://identifiers.org/clinvar/324255 ^@ NM_018488.3(TBX4):c.921C>T (p.Asn307=) http://identifiers.org/clinvar/313073 ^@ NM_025152.2(NUBPL):c.*1888G>A http://identifiers.org/clinvar/313074 ^@ NM_025152.2(NUBPL):c.*2036A>C http://identifiers.org/clinvar/324264 ^@ NM_018488.3(TBX4):c.1521G>A (p.Ser507=) http://identifiers.org/clinvar/313076 ^@ NM_021914.7(CFL2):c.*2284C>T http://identifiers.org/clinvar/324265 ^@ NM_018488.3(TBX4):c.1620G>A (p.Glu540=) http://identifiers.org/clinvar/313081 ^@ NM_021914.7(CFL2):c.*1885C>T http://identifiers.org/clinvar/313083 ^@ NM_021914.7(CFL2):c.*1393delA http://identifiers.org/clinvar/313085 ^@ NM_021914.7(CFL2):c.*1070G>A http://identifiers.org/clinvar/324266 ^@ NM_018488.3(TBX4):c.*7C>T http://identifiers.org/clinvar/324277 ^@ NM_018488.3(TBX4):c.*138A>G http://identifiers.org/clinvar/324283 ^@ NM_018488.3(TBX4):c.*661G>A http://identifiers.org/clinvar/324284 ^@ NM_018488.3(TBX4):c.*707G>T http://identifiers.org/clinvar/307096 ^@ NM_000431.3(MVK):c.527+8T>C http://identifiers.org/clinvar/307097 ^@ NM_000431.3(MVK):c.527+13C>A http://identifiers.org/clinvar/313086 ^@ NM_021914.7(CFL2):c.*1036G>A http://identifiers.org/clinvar/324301 ^@ NM_032043.2(BRIP1):c.*2926T>A http://identifiers.org/clinvar/324305 ^@ NM_032043.2(BRIP1):c.*2819_*2820insAAAAAAA http://identifiers.org/clinvar/313091 ^@ NM_021914.7(CFL2):c.*409T>G http://identifiers.org/clinvar/313094 ^@ NM_021914.7(CFL2):c.*285A>G http://identifiers.org/clinvar/313101 ^@ NM_020529.2(NFKBIA):c.*302A>C http://identifiers.org/clinvar/324310 ^@ NM_032043.2(BRIP1):c.*2815_*2816insAAAGAAA http://identifiers.org/clinvar/324311 ^@ NM_032043.2(BRIP1):c.*2812_*2815dupAAAA http://identifiers.org/clinvar/306027 ^@ NM_016725.2(FOLR1):c.*122A>G http://identifiers.org/clinvar/313108 ^@ NM_020529.2(NFKBIA):c.*2C>T http://identifiers.org/clinvar/324320 ^@ NM_032043.2(BRIP1):c.*2337A>T http://identifiers.org/clinvar/324321 ^@ NM_032043.2(BRIP1):c.*2241T>C http://identifiers.org/clinvar/324326 ^@ NM_032043.2(BRIP1):c.*1393G>T http://identifiers.org/clinvar/306035 ^@ NM_005472.4(KCNE3):c.*1977A>C http://identifiers.org/clinvar/306044 ^@ NM_005472.4(KCNE3):c.*1459A>T http://identifiers.org/clinvar/307101 ^@ NM_000431.3(MVK):c.1163G>A (p.Arg388Gln) http://identifiers.org/clinvar/324327 ^@ NM_032043.2(BRIP1):c.*1381G>T http://identifiers.org/clinvar/324330 ^@ NM_032043.2(BRIP1):c.*1257_*1258delAG http://identifiers.org/clinvar/324333 ^@ NM_032043.2(BRIP1):c.*729C>T http://identifiers.org/clinvar/324334 ^@ NM_032043.2(BRIP1):c.*616A>G http://identifiers.org/clinvar/306049 ^@ NM_005472.4(KCNE3):c.*1393G>A http://identifiers.org/clinvar/306052 ^@ NM_005472.4(KCNE3):c.*1211G>A http://identifiers.org/clinvar/313116 ^@ NM_020529.2(NFKBIA):c.243C>T (p.Ala81=) http://identifiers.org/clinvar/313117 ^@ NM_020529.2(NFKBIA):c.81C>T (p.Asp27=) http://identifiers.org/clinvar/313119 ^@ NM_020529.2(NFKBIA):c.-66G>A http://identifiers.org/clinvar/324335 ^@ NM_032043.2(BRIP1):c.*483C>T http://identifiers.org/clinvar/324336 ^@ NM_032043.2(BRIP1):c.*421C>T http://identifiers.org/clinvar/313121 ^@ NM_020529.2(NFKBIA):c.-80C>T http://identifiers.org/clinvar/313126 ^@ NM_001079668.2(NKX2-1):c.*470A>G http://identifiers.org/clinvar/307103 ^@ NM_000431.3(MVK):c.*75T>G http://identifiers.org/clinvar/324338 ^@ NM_032043.2(BRIP1):c.*380C>T http://identifiers.org/clinvar/324340 ^@ NM_032043.2(BRIP1):c.*288A>G http://identifiers.org/clinvar/307106 ^@ NM_000431.3(MVK):c.*412C>T http://identifiers.org/clinvar/307112 ^@ NM_021625.4(TRPV4):c.*486T>C http://identifiers.org/clinvar/313130 ^@ NM_001079668.2(NKX2-1):c.*436A>C http://identifiers.org/clinvar/307115 ^@ NM_021625.4(TRPV4):c.*378G>C http://identifiers.org/clinvar/307117 ^@ NM_021625.4(TRPV4):c.*230G>A http://identifiers.org/clinvar/313131 ^@ NM_001079668.2(NKX2-1):c.*292dupG http://identifiers.org/clinvar/307121 ^@ NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) http://identifiers.org/clinvar/306054 ^@ NM_005472.4(KCNE3):c.*1091_*1096delATATAT http://identifiers.org/clinvar/307122 ^@ NM_021625.4(TRPV4):c.2484C>T (p.Arg828=) http://identifiers.org/clinvar/307123 ^@ NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly) http://identifiers.org/clinvar/307125 ^@ NM_021625.4(TRPV4):c.1825-15C>T http://identifiers.org/clinvar/313139 ^@ NM_001079668.2(NKX2-1):c.1106C>T (p.Ala369Val) http://identifiers.org/clinvar/324343 ^@ NM_032043.2(BRIP1):c.*172G>C http://identifiers.org/clinvar/324359 ^@ NM_000789.3(ACE):c.45G>C (p.Pro15=) http://identifiers.org/clinvar/307134 ^@ NM_021625.4(TRPV4):c.963C>A (p.Gly321=) http://identifiers.org/clinvar/306055 ^@ NM_005472.4(KCNE3):c.*1083_*1096dupATATATATATATAT http://identifiers.org/clinvar/307135 ^@ NM_021625.4(TRPV4):c.936G>A (p.Ala312=) http://identifiers.org/clinvar/324361 ^@ NM_000789.3(ACE):c.177G>A (p.Gln59=) http://identifiers.org/clinvar/324369 ^@ NM_000789.3(ACE):c.781G>T (p.Ala261Ser) http://identifiers.org/clinvar/324370 ^@ NM_000789.3(ACE):c.847+12G>A http://identifiers.org/clinvar/307139 ^@ NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) http://identifiers.org/clinvar/307145 ^@ NM_021625.4(TRPV4):c.-74G>A http://identifiers.org/clinvar/313140 ^@ NM_001079668.2(NKX2-1):c.1093G>T (p.Ala365Ser) http://identifiers.org/clinvar/313143 ^@ NM_001079668.2(NKX2-1):c.657G>A (p.Pro219=) http://identifiers.org/clinvar/313147 ^@ NM_001079668.2(NKX2-1):c.29G>A (p.Arg10Gln) http://identifiers.org/clinvar/306057 ^@ NM_005472.4(KCNE3):c.*1065G>A http://identifiers.org/clinvar/324372 ^@ NM_000789.3(ACE):c.970C>T (p.Arg324Trp) http://identifiers.org/clinvar/306058 ^@ NM_005472.4(KCNE3):c.*1056C>G http://identifiers.org/clinvar/313149 ^@ NM_001079668.2(NKX2-1):c.-85G>T http://identifiers.org/clinvar/324378 ^@ NM_000789.3(ACE):c.1311C>T (p.Ile437=) http://identifiers.org/clinvar/324379 ^@ NM_000789.3(ACE):c.1439G>A (p.Ser480Asn) http://identifiers.org/clinvar/307151 ^@ NM_001681.3(ATP2A2):c.-324G>A http://identifiers.org/clinvar/313161 ^@ NM_006194.3(PAX9):c.-186C>A http://identifiers.org/clinvar/313166 ^@ NM_006194.3(PAX9):c.289A>C (p.Ile97Leu) http://identifiers.org/clinvar/307153 ^@ NM_001681.3(ATP2A2):c.-274G>C http://identifiers.org/clinvar/307154 ^@ NM_001681.3(ATP2A2):c.-240G>A http://identifiers.org/clinvar/306060 ^@ NM_005472.4(KCNE3):c.*995C>T http://identifiers.org/clinvar/306063 ^@ NM_005472.4(KCNE3):c.*919_*922dupTTTT http://identifiers.org/clinvar/307156 ^@ NM_001681.3(ATP2A2):c.-75C>T http://identifiers.org/clinvar/324381 ^@ NM_000789.3(ACE):c.1513C>G (p.Pro505Ala) http://identifiers.org/clinvar/307164 ^@ NM_001681.3(ATP2A2):c.303T>C (p.Asn101=) http://identifiers.org/clinvar/324383 ^@ NM_000789.3(ACE):c.1540G>A (p.Asp514Asn) http://identifiers.org/clinvar/307165 ^@ NM_001681.3(ATP2A2):c.327A>G (p.Glu109=) http://identifiers.org/clinvar/307166 ^@ NM_001681.3(ATP2A2):c.544+10A>G http://identifiers.org/clinvar/306069 ^@ NM_005472.4(KCNE3):c.*736G>C http://identifiers.org/clinvar/306071 ^@ NM_005472.4(KCNE3):c.*663A>G http://identifiers.org/clinvar/324384 ^@ NM_000789.3(ACE):c.1647C>T (p.Gly549=) http://identifiers.org/clinvar/324390 ^@ NM_000789.3(ACE):c.2189C>A (p.Ala730Glu) http://identifiers.org/clinvar/324400 ^@ NM_000789.3(ACE):c.2626C>T (p.Pro876Ser) http://identifiers.org/clinvar/307175 ^@ NM_001681.3(ATP2A2):c.1912A>G (p.Ile638Val) http://identifiers.org/clinvar/307180 ^@ NM_001681.3(ATP2A2):c.2319-12G>A http://identifiers.org/clinvar/313169 ^@ NM_006194.3(PAX9):c.524C>T (p.Thr175Met) http://identifiers.org/clinvar/313170 ^@ NM_006194.3(PAX9):c.623C>G (p.Thr208Ser) http://identifiers.org/clinvar/324401 ^@ NM_000789.3(ACE):c.2636T>A (p.Leu879Gln) http://identifiers.org/clinvar/324404 ^@ NM_000789.3(ACE):c.2709G>A (p.Ser903=) http://identifiers.org/clinvar/306073 ^@ NM_005472.4(KCNE3):c.*463C>T http://identifiers.org/clinvar/306084 ^@ NM_006755.1(TALDO1):c.-21_-19dupCGC http://identifiers.org/clinvar/324423 ^@ NM_000789.3(ACE):c.3906G>A (p.Glu1302=) http://identifiers.org/clinvar/324424 ^@ NM_000789.3(ACE):c.*185G>A http://identifiers.org/clinvar/313171 ^@ NM_006194.3(PAX9):c.717C>T (p.His239=) http://identifiers.org/clinvar/324429 ^@ NM_000789.3(ACE):c.*564C>T http://identifiers.org/clinvar/324432 ^@ NM_000789.3(ACE):c.*627G>A http://identifiers.org/clinvar/313172 ^@ NM_006194.3(PAX9):c.1020G>A (p.Ala340=) http://identifiers.org/clinvar/313173 ^@ NM_006194.3(PAX9):c.*206T>C http://identifiers.org/clinvar/307188 ^@ NM_001681.3(ATP2A2):c.*2C>T http://identifiers.org/clinvar/324434 ^@ NM_000789.3(ACE):c.*709G>A http://identifiers.org/clinvar/324438 ^@ NM_000789.3(ACE):c.*910A>G http://identifiers.org/clinvar/306087 ^@ NM_006755.1(TALDO1):c.48C>T (p.Asp16=) http://identifiers.org/clinvar/324440 ^@ NM_016360.3(TACO1):c.-177C>T http://identifiers.org/clinvar/324441 ^@ NM_016360.3(TACO1):c.-163A>G http://identifiers.org/clinvar/313174 ^@ NM_006194.3(PAX9):c.*231T>G http://identifiers.org/clinvar/324449 ^@ NM_016360.3(TACO1):c.*230G>A http://identifiers.org/clinvar/313175 ^@ NM_006194.3(PAX9):c.*259C>T http://identifiers.org/clinvar/313182 ^@ NM_006194.3(PAX9):c.*554G>C http://identifiers.org/clinvar/307190 ^@ NM_001681.3(ATP2A2):c.*45C>T http://identifiers.org/clinvar/324453 ^@ NM_000515.4(GH1):c.309C>T (p.Arg103=) http://identifiers.org/clinvar/307193 ^@ NM_001681.3(ATP2A2):c.*212A>G http://identifiers.org/clinvar/313185 ^@ NM_006194.3(PAX9):c.*902G>A http://identifiers.org/clinvar/306088 ^@ NM_006755.1(TALDO1):c.68C>G (p.Thr23Ser) http://identifiers.org/clinvar/324454 ^@ NM_000515.4(GH1):c.292-15G>A http://identifiers.org/clinvar/306090 ^@ NM_001235.3(SERPINH1):c.-268delA http://identifiers.org/clinvar/306091 ^@ NM_001235.3(SERPINH1):c.-211G>A http://identifiers.org/clinvar/313191 ^@ NM_020937.3(FANCM):c.496G>A (p.Ala166Thr) http://identifiers.org/clinvar/324456 ^@ NM_000515.4(GH1):c.134G>A (p.Arg45His) http://identifiers.org/clinvar/313194 ^@ NM_020937.3(FANCM):c.547A>C (p.Ser183Arg) http://identifiers.org/clinvar/324458 ^@ NM_000515.4(GH1):c.66A>G (p.Gln22=) http://identifiers.org/clinvar/313195 ^@ NM_020937.3(FANCM):c.555A>G (p.Arg185=) http://identifiers.org/clinvar/313197 ^@ NM_020937.3(FANCM):c.1394A>G (p.Asn465Ser) http://identifiers.org/clinvar/324461 ^@ NM_000515.4(GH1):c.-27G>T http://identifiers.org/clinvar/313201 ^@ NM_020937.3(FANCM):c.1760T>C (p.Ile587Thr) http://identifiers.org/clinvar/313204 ^@ NM_020937.3(FANCM):c.2240A>G (p.His747Arg) http://identifiers.org/clinvar/306100 ^@ NM_001235.3(SERPINH1):c.480G>C (p.Lys160Asn) http://identifiers.org/clinvar/313206 ^@ NM_020937.3(FANCM):c.2389C>G (p.Pro797Ala) http://identifiers.org/clinvar/324462 ^@ NM_000515.4(GH1):c.-60G>C http://identifiers.org/clinvar/306102 ^@ NM_001235.3(SERPINH1):c.486C>G (p.Asn162Lys) http://identifiers.org/clinvar/324465 ^@ NM_000334.4(SCN4A):c.*2150C>A http://identifiers.org/clinvar/313209 ^@ NM_020937.3(FANCM):c.2859A>C (p.Lys953Asn) http://identifiers.org/clinvar/324472 ^@ NM_000334.4(SCN4A):c.*1828A>G http://identifiers.org/clinvar/313211 ^@ NM_020937.3(FANCM):c.3327T>C (p.Asn1109=) http://identifiers.org/clinvar/307195 ^@ NM_001681.3(ATP2A2):c.*660_*661delAT http://identifiers.org/clinvar/324475 ^@ NM_000334.4(SCN4A):c.*1677_*1678insAT http://identifiers.org/clinvar/307199 ^@ NM_001681.3(ATP2A2):c.*778_*782delTCTAT http://identifiers.org/clinvar/324478 ^@ NM_000334.4(SCN4A):c.*1427T>C http://identifiers.org/clinvar/306109 ^@ NM_001235.3(SERPINH1):c.823G>A (p.Val275Met) http://identifiers.org/clinvar/324480 ^@ NM_000334.4(SCN4A):c.*1368G>C http://identifiers.org/clinvar/306113 ^@ NM_001235.3(SERPINH1):c.1208T>C (p.Ile403Thr) http://identifiers.org/clinvar/324483 ^@ NM_000334.4(SCN4A):c.*1271T>A http://identifiers.org/clinvar/306116 ^@ NM_001235.3(SERPINH1):c.*179A>G http://identifiers.org/clinvar/324487 ^@ NM_000334.4(SCN4A):c.*1172G>A http://identifiers.org/clinvar/313221 ^@ NM_020937.3(FANCM):c.4709G>A (p.Arg1570His) http://identifiers.org/clinvar/313235 ^@ NM_020937.3(FANCM):c.*375A>G http://identifiers.org/clinvar/313238 ^@ NM_020937.3(FANCM):c.*797T>C http://identifiers.org/clinvar/313245 ^@ NM_002408.3(MGAT2):c.-351G>T http://identifiers.org/clinvar/307205 ^@ NM_001082538.2(TCTN1):c.327A>G (p.Ser109=) http://identifiers.org/clinvar/324492 ^@ NM_000334.4(SCN4A):c.*873G>C http://identifiers.org/clinvar/324493 ^@ NM_000334.4(SCN4A):c.*755G>A http://identifiers.org/clinvar/313247 ^@ NM_002408.3(MGAT2):c.-338C>T http://identifiers.org/clinvar/324496 ^@ NM_000334.4(SCN4A):c.*563G>A http://identifiers.org/clinvar/324497 ^@ NM_000334.4(SCN4A):c.*394A>C http://identifiers.org/clinvar/313248 ^@ NM_002408.3(MGAT2):c.-296C>T http://identifiers.org/clinvar/324501 ^@ NM_000334.4(SCN4A):c.*129G>T http://identifiers.org/clinvar/307212 ^@ NM_000432.3(MYL2):c.402+8G>T http://identifiers.org/clinvar/313252 ^@ NM_002408.3(MGAT2):c.-121C>G http://identifiers.org/clinvar/307215 ^@ NM_000432.3(MYL2):c.4-3delC http://identifiers.org/clinvar/324503 ^@ NM_000334.4(SCN4A):c.*86G>T http://identifiers.org/clinvar/324507 ^@ NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) http://identifiers.org/clinvar/306117 ^@ NM_001235.3(SERPINH1):c.*228A>G http://identifiers.org/clinvar/324508 ^@ NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) http://identifiers.org/clinvar/306126 ^@ NM_001235.3(SERPINH1):c.*678delT http://identifiers.org/clinvar/306128 ^@ NM_006755.1(TALDO1):c.197T>C (p.Ile66Thr) http://identifiers.org/clinvar/324509 ^@ NM_000334.4(SCN4A):c.5274C>T (p.His1758=) http://identifiers.org/clinvar/306129 ^@ NM_006755.1(TALDO1):c.293A>T (p.Lys98Met) http://identifiers.org/clinvar/324525 ^@ NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) http://identifiers.org/clinvar/313253 ^@ NM_002408.3(MGAT2):c.-68_-65dupGCCC http://identifiers.org/clinvar/324533 ^@ NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) http://identifiers.org/clinvar/307216 ^@ NM_000432.3(MYL2):c.3+9A>G http://identifiers.org/clinvar/324570 ^@ NM_014336.4(AIPL1):c.*1550A>C http://identifiers.org/clinvar/307218 ^@ NM_000432.3(MYL2):c.-28C>T http://identifiers.org/clinvar/313254 ^@ NM_002408.3(MGAT2):c.63C>T (p.Gly21=) http://identifiers.org/clinvar/307219 ^@ NM_002834.4(PTPN11):c.-287G>C http://identifiers.org/clinvar/313258 ^@ NM_002408.3(MGAT2):c.1233A>T (p.Leu411=) http://identifiers.org/clinvar/307222 ^@ NM_002834.4(PTPN11):c.-179G>C http://identifiers.org/clinvar/307230 ^@ NM_002834.4(PTPN11):c.*656delT http://identifiers.org/clinvar/306134 ^@ NM_006755.1(TALDO1):c.488A>G (p.His163Arg) http://identifiers.org/clinvar/306135 ^@ NM_006755.1(TALDO1):c.662A>G (p.Tyr221Cys) http://identifiers.org/clinvar/324571 ^@ NM_014336.4(AIPL1):c.*1537C>A http://identifiers.org/clinvar/306136 ^@ NM_006755.1(TALDO1):c.726C>T (p.Gly242=) http://identifiers.org/clinvar/324573 ^@ NM_014336.4(AIPL1):c.*1459G>T http://identifiers.org/clinvar/306145 ^@ NM_006755.1(TALDO1):c.*33C>T http://identifiers.org/clinvar/324576 ^@ NM_014336.4(AIPL1):c.*1398G>A http://identifiers.org/clinvar/306147 ^@ NM_000260.3(MYO7A):c.-196C>T http://identifiers.org/clinvar/306149 ^@ NM_000260.3(MYO7A):c.-160G>A http://identifiers.org/clinvar/306150 ^@ NM_000260.3(MYO7A):c.-154G>A http://identifiers.org/clinvar/324578 ^@ NM_014336.4(AIPL1):c.*1335A>C http://identifiers.org/clinvar/306153 ^@ NM_000260.3(MYO7A):c.160A>G (p.Thr54Ala) http://identifiers.org/clinvar/306154 ^@ NM_000260.3(MYO7A):c.186G>A (p.Thr62=) http://identifiers.org/clinvar/324579 ^@ NM_014336.4(AIPL1):c.*1289G>A http://identifiers.org/clinvar/306155 ^@ NM_000260.3(MYO7A):c.215G>T (p.Arg72Leu) http://identifiers.org/clinvar/306161 ^@ NM_000260.3(MYO7A):c.562C>G (p.Gln188Glu) http://identifiers.org/clinvar/306162 ^@ NM_000260.3(MYO7A):c.571G>C (p.Glu191Gln) http://identifiers.org/clinvar/306166 ^@ NM_000260.3(MYO7A):c.1344-7C>G http://identifiers.org/clinvar/324582 ^@ NM_014336.4(AIPL1):c.*1202C>T http://identifiers.org/clinvar/306168 ^@ NM_000260.3(MYO7A):c.1554G>A (p.Lys518=) http://identifiers.org/clinvar/313265 ^@ NM_002408.3(MGAT2):c.*666_*669delTTTT http://identifiers.org/clinvar/306176 ^@ NM_000260.3(MYO7A):c.2411G>A (p.Arg804Gln) http://identifiers.org/clinvar/324586 ^@ NM_014336.4(AIPL1):c.*1017C>T http://identifiers.org/clinvar/306188 ^@ NM_000260.3(MYO7A):c.4630G>A (p.Gly1544Ser) http://identifiers.org/clinvar/306194 ^@ NM_000260.3(MYO7A):c.5380G>A (p.Glu1794Lys) http://identifiers.org/clinvar/313270 ^@ NM_018139.2(DNAAF2):c.*328A>T http://identifiers.org/clinvar/313271 ^@ NM_018139.2(DNAAF2):c.*290_*294delGTTTT http://identifiers.org/clinvar/313274 ^@ NM_018139.2(DNAAF2):c.*126T>A http://identifiers.org/clinvar/313281 ^@ NM_018139.2(DNAAF2):c.1120G>C (p.Gly374Arg) http://identifiers.org/clinvar/306195 ^@ NM_000260.3(MYO7A):c.5640C>T (p.Asn1880=) http://identifiers.org/clinvar/306197 ^@ NM_000260.3(MYO7A):c.5667G>C (p.Leu1889=) http://identifiers.org/clinvar/306202 ^@ NM_000260.3(MYO7A):c.5950G>A (p.Val1984Met) http://identifiers.org/clinvar/324588 ^@ NM_014336.4(AIPL1):c.*1007C>T http://identifiers.org/clinvar/324593 ^@ NM_014336.4(AIPL1):c.*730dupA http://identifiers.org/clinvar/324597 ^@ NM_014336.4(AIPL1):c.*221G>A http://identifiers.org/clinvar/324602 ^@ NM_014336.4(AIPL1):c.*151_*152dupAA http://identifiers.org/clinvar/324608 ^@ NM_014336.4(AIPL1):c.*53C>T http://identifiers.org/clinvar/324610 ^@ NM_014336.4(AIPL1):c.*23C>G http://identifiers.org/clinvar/306203 ^@ NM_000260.3(MYO7A):c.6600G>C (p.Gln2200His) http://identifiers.org/clinvar/306205 ^@ NM_000260.3(MYO7A):c.*142A>G http://identifiers.org/clinvar/324611 ^@ NM_014336.4(AIPL1):c.1108C>T (p.Pro370Ser) http://identifiers.org/clinvar/324620 ^@ NM_014336.4(AIPL1):c.377T>A (p.Met126Lys) http://identifiers.org/clinvar/313282 ^@ NM_018139.2(DNAAF2):c.734C>T (p.Ala245Val) http://identifiers.org/clinvar/313283 ^@ NM_018139.2(DNAAF2):c.731C>A (p.Ala244Glu) http://identifiers.org/clinvar/324621 ^@ NM_014336.4(AIPL1):c.359C>T (p.Thr120Met) http://identifiers.org/clinvar/306206 ^@ NM_000260.3(MYO7A):c.*208C>G http://identifiers.org/clinvar/306215 ^@ NM_024079.4(ALG8):c.984C>A (p.Val328=) http://identifiers.org/clinvar/324625 ^@ NM_014336.4(AIPL1):c.-52G>T http://identifiers.org/clinvar/313284 ^@ NM_018139.2(DNAAF2):c.700C>T (p.Pro234Ser) http://identifiers.org/clinvar/313287 ^@ NM_018139.2(DNAAF2):c.387C>G (p.Arg129=) http://identifiers.org/clinvar/307231 ^@ NM_002834.4(PTPN11):c.*670G>A http://identifiers.org/clinvar/324652 ^@ NM_031220.3(PITPNM3):c.*4047C>T http://identifiers.org/clinvar/324653 ^@ NM_031220.3(PITPNM3):c.*3878G>A http://identifiers.org/clinvar/324664 ^@ NM_031220.3(PITPNM3):c.*3463_*3464insCG http://identifiers.org/clinvar/313292 ^@ NM_015915.4(ATL1):c.-155C>G http://identifiers.org/clinvar/313296 ^@ NM_015915.4(ATL1):c.622C>T (p.Pro208Ser) http://identifiers.org/clinvar/306220 ^@ NM_024079.4(ALG8):c.675T>C (p.Asp225=) http://identifiers.org/clinvar/324665 ^@ NM_031220.3(PITPNM3):c.*3462G>C http://identifiers.org/clinvar/306221 ^@ NM_024079.4(ALG8):c.647C>G (p.Ser216Cys) http://identifiers.org/clinvar/307233 ^@ NM_002834.4(PTPN11):c.*740C>T http://identifiers.org/clinvar/306222 ^@ NM_024079.4(ALG8):c.623C>T (p.Ala208Val) http://identifiers.org/clinvar/306228 ^@ NM_024079.4(ALG8):c.-5C>T http://identifiers.org/clinvar/307235 ^@ NM_002834.4(PTPN11):c.*838G>A http://identifiers.org/clinvar/307238 ^@ NM_002834.4(PTPN11):c.*1035A>G http://identifiers.org/clinvar/307244 ^@ NM_002834.4(PTPN11):c.*1374G>C http://identifiers.org/clinvar/307248 ^@ NM_002834.4(PTPN11):c.*1729A>G http://identifiers.org/clinvar/324668 ^@ NM_031220.3(PITPNM3):c.*3453_*3454insC http://identifiers.org/clinvar/307251 ^@ NM_002834.4(PTPN11):c.*1946G>A http://identifiers.org/clinvar/307255 ^@ NM_002834.4(PTPN11):c.*2907A>C http://identifiers.org/clinvar/307256 ^@ NM_002834.4(PTPN11):c.*2927T>A http://identifiers.org/clinvar/307258 ^@ NM_002834.4(PTPN11):c.*3006G>A http://identifiers.org/clinvar/313301 ^@ NM_015915.4(ATL1):c.756C>T (p.Asn252=) http://identifiers.org/clinvar/313302 ^@ NM_015915.4(ATL1):c.969G>C (p.Arg323=) http://identifiers.org/clinvar/324675 ^@ NM_031220.3(PITPNM3):c.*3448_*3449insCGG http://identifiers.org/clinvar/306229 ^@ NM_024079.4(ALG8):c.-7C>T http://identifiers.org/clinvar/313303 ^@ NM_015915.4(ATL1):c.991-6T>G http://identifiers.org/clinvar/324676 ^@ NM_031220.3(PITPNM3):c.*3447dupG http://identifiers.org/clinvar/307259 ^@ NM_002834.4(PTPN11):c.*3043C>T http://identifiers.org/clinvar/313306 ^@ NM_015915.4(ATL1):c.1567-14T>C http://identifiers.org/clinvar/313309 ^@ NM_015915.4(ATL1):c.*304C>T http://identifiers.org/clinvar/324677 ^@ NM_031220.3(PITPNM3):c.*3390C>T http://identifiers.org/clinvar/313312 ^@ NM_015915.4(ATL1):c.*450A>G http://identifiers.org/clinvar/324681 ^@ NM_031220.3(PITPNM3):c.*3253G>C http://identifiers.org/clinvar/313315 ^@ NM_015915.4(ATL1):c.*621G>A http://identifiers.org/clinvar/313317 ^@ NM_002863.4(PYGL):c.*129T>C http://identifiers.org/clinvar/313321 ^@ NM_002863.4(PYGL):c.1920G>A (p.Lys640=) http://identifiers.org/clinvar/324695 ^@ NM_031220.3(PITPNM3):c.*2701C>T http://identifiers.org/clinvar/313322 ^@ NM_002863.4(PYGL):c.1884A>G (p.Ala628=) http://identifiers.org/clinvar/313323 ^@ NM_002863.4(PYGL):c.1757C>T (p.Thr586Met) http://identifiers.org/clinvar/324702 ^@ NM_031220.3(PITPNM3):c.*2332_*2335delGAGA http://identifiers.org/clinvar/324705 ^@ NM_031220.3(PITPNM3):c.*2306delCinsAAGGAAGACAGAGAG http://identifiers.org/clinvar/313328 ^@ NM_002863.4(PYGL):c.833G>A (p.Arg278Gln) http://identifiers.org/clinvar/313336 ^@ NM_001202.5(BMP4):c.*251C>T http://identifiers.org/clinvar/313337 ^@ NM_001202.5(BMP4):c.*150delG http://identifiers.org/clinvar/313342 ^@ NM_001202.5(BMP4):c.*148_*149insAAT http://identifiers.org/clinvar/306231 ^@ NM_024698.5(SLC25A22):c.*1426_*1429delAATA http://identifiers.org/clinvar/324707 ^@ NM_031220.3(PITPNM3):c.*2289A>G http://identifiers.org/clinvar/324711 ^@ NM_031220.3(PITPNM3):c.*2199G>A http://identifiers.org/clinvar/313349 ^@ NM_001202.5(BMP4):c.*88C>T http://identifiers.org/clinvar/313350 ^@ NM_001202.5(BMP4):c.*35C>G http://identifiers.org/clinvar/313355 ^@ NM_001202.5(BMP4):c.-146T>C http://identifiers.org/clinvar/313356 ^@ NM_001202.5(BMP4):c.-342G>A http://identifiers.org/clinvar/313357 ^@ NM_000161.2(GCH1):c.*1915T>C http://identifiers.org/clinvar/313361 ^@ NM_000161.2(GCH1):c.*1628A>C http://identifiers.org/clinvar/324713 ^@ NM_031220.3(PITPNM3):c.*2088A>G http://identifiers.org/clinvar/313364 ^@ NM_000161.2(GCH1):c.*1463_*1464dupAT http://identifiers.org/clinvar/313366 ^@ NM_000161.2(GCH1):c.*1257C>T http://identifiers.org/clinvar/306232 ^@ NM_024698.5(SLC25A22):c.*1277C>T http://identifiers.org/clinvar/324715 ^@ NM_031220.3(PITPNM3):c.*2037delT http://identifiers.org/clinvar/306241 ^@ NM_024698.5(SLC25A22):c.*841A>T http://identifiers.org/clinvar/324717 ^@ NM_031220.3(PITPNM3):c.*1909G>C http://identifiers.org/clinvar/313369 ^@ NM_000161.2(GCH1):c.*1176C>G http://identifiers.org/clinvar/313371 ^@ NM_000161.2(GCH1):c.*1130C>G http://identifiers.org/clinvar/307262 ^@ NM_002834.4(PTPN11):c.*3300T>C http://identifiers.org/clinvar/324725 ^@ NM_031220.3(PITPNM3):c.*1106A>G http://identifiers.org/clinvar/313379 ^@ NM_000161.2(GCH1):c.*727A>G http://identifiers.org/clinvar/307274 ^@ NM_000192.3(TBX5):c.*1111T>C http://identifiers.org/clinvar/306244 ^@ NM_024698.5(SLC25A22):c.*760G>A http://identifiers.org/clinvar/306247 ^@ NM_024698.5(SLC25A22):c.*711G>A http://identifiers.org/clinvar/324733 ^@ NM_031220.3(PITPNM3):c.*576T>C http://identifiers.org/clinvar/306248 ^@ NM_024698.5(SLC25A22):c.*704_*705dupTG http://identifiers.org/clinvar/324734 ^@ NM_031220.3(PITPNM3):c.*561C>G http://identifiers.org/clinvar/307276 ^@ NM_000192.3(TBX5):c.*960A>G http://identifiers.org/clinvar/307279 ^@ NM_000192.3(TBX5):c.*875A>C http://identifiers.org/clinvar/313380 ^@ NM_000161.2(GCH1):c.*715G>T http://identifiers.org/clinvar/324738 ^@ NM_031220.3(PITPNM3):c.*299C>A http://identifiers.org/clinvar/307283 ^@ NM_000192.3(TBX5):c.*806C>G http://identifiers.org/clinvar/324741 ^@ NM_031220.3(PITPNM3):c.*34G>T http://identifiers.org/clinvar/307284 ^@ NM_000192.3(TBX5):c.*795G>T http://identifiers.org/clinvar/313390 ^@ NM_000161.2(GCH1):c.627-12C>T http://identifiers.org/clinvar/313391 ^@ NM_000161.2(GCH1):c.626+9G>T http://identifiers.org/clinvar/307290 ^@ NM_000192.3(TBX5):c.*601G>A http://identifiers.org/clinvar/307291 ^@ NM_000192.3(TBX5):c.*563G>A http://identifiers.org/clinvar/313393 ^@ NM_000161.2(GCH1):c.543T>G (p.Val181=) http://identifiers.org/clinvar/307292 ^@ NM_000192.3(TBX5):c.*545C>G http://identifiers.org/clinvar/306250 ^@ NM_024698.5(SLC25A22):c.*560C>T http://identifiers.org/clinvar/324743 ^@ NM_031220.3(PITPNM3):c.2472G>A (p.Leu824=) http://identifiers.org/clinvar/324751 ^@ NM_031220.3(PITPNM3):c.1538G>A (p.Arg513His) http://identifiers.org/clinvar/324756 ^@ NM_031220.3(PITPNM3):c.915G>A (p.Ala305=) http://identifiers.org/clinvar/324760 ^@ NM_031220.3(PITPNM3):c.747G>A (p.Lys249=) http://identifiers.org/clinvar/307303 ^@ NM_000192.3(TBX5):c.1313G>A (p.Arg438Gln) http://identifiers.org/clinvar/307304 ^@ NM_000192.3(TBX5):c.1123C>T (p.Arg375Trp) http://identifiers.org/clinvar/306253 ^@ NM_024698.5(SLC25A22):c.*436C>T http://identifiers.org/clinvar/324762 ^@ NM_031220.3(PITPNM3):c.456C>A (p.Ala152=) http://identifiers.org/clinvar/306255 ^@ NM_024698.5(SLC25A22):c.*209A>G http://identifiers.org/clinvar/324763 ^@ NM_031220.3(PITPNM3):c.368G>A (p.Arg123His) http://identifiers.org/clinvar/324627 ^@ NM_004655.3(AXIN2):c.*1209T>C http://identifiers.org/clinvar/324634 ^@ NM_004655.3(AXIN2):c.*631dupT http://identifiers.org/clinvar/307308 ^@ NM_000192.3(TBX5):c.318T>C (p.Ile106=) http://identifiers.org/clinvar/307310 ^@ NM_000192.3(TBX5):c.68C>A (p.Pro23His) http://identifiers.org/clinvar/313397 ^@ NM_000161.2(GCH1):c.69C>T (p.Pro23=) http://identifiers.org/clinvar/324635 ^@ NM_004655.3(AXIN2):c.*500T>G http://identifiers.org/clinvar/313399 ^@ NM_000161.2(GCH1):c.-5G>C http://identifiers.org/clinvar/324637 ^@ NM_004655.3(AXIN2):c.*376A>G http://identifiers.org/clinvar/324638 ^@ NM_004655.3(AXIN2):c.*320A>C http://identifiers.org/clinvar/306275 ^@ NM_024698.5(SLC25A22):c.-141G>A http://identifiers.org/clinvar/307316 ^@ NM_000192.3(TBX5):c.-347C>G http://identifiers.org/clinvar/307318 ^@ NM_000192.3(TBX5):c.-481T>C http://identifiers.org/clinvar/324642 ^@ NM_004655.3(AXIN2):c.*88A>G http://identifiers.org/clinvar/307319 ^@ NM_000192.3(TBX5):c.-545C>T http://identifiers.org/clinvar/307328 ^@ NM_005996.3(TBX3):c.*1312T>C http://identifiers.org/clinvar/307334 ^@ NM_005996.3(TBX3):c.*1083_*1085delGTT http://identifiers.org/clinvar/306278 ^@ NM_024698.5(SLC25A22):c.-164+6T>C http://identifiers.org/clinvar/324643 ^@ NM_004655.3(AXIN2):c.*74G>A http://identifiers.org/clinvar/306281 ^@ NM_024698.5(SLC25A22):c.-224C>T http://identifiers.org/clinvar/313402 ^@ NM_000161.2(GCH1):c.-98C>T http://identifiers.org/clinvar/324645 ^@ NM_004655.3(AXIN2):c.1532C>T (p.Thr511Met) http://identifiers.org/clinvar/307338 ^@ NM_005996.3(TBX3):c.*571C>G http://identifiers.org/clinvar/324646 ^@ NM_004655.3(AXIN2):c.1531A>T (p.Thr511Ser) http://identifiers.org/clinvar/306285 ^@ NM_024698.5(SLC25A22):c.-316C>T http://identifiers.org/clinvar/324649 ^@ NM_004655.3(AXIN2):c.1242G>A (p.Arg414=) http://identifiers.org/clinvar/324680 ^@ NM_004655.3(AXIN2):c.815+4A>G http://identifiers.org/clinvar/324684 ^@ NM_004655.3(AXIN2):c.517C>A (p.Gln173Lys) http://identifiers.org/clinvar/313407 ^@ NM_172337.2(OTX2):c.*966A>G http://identifiers.org/clinvar/313408 ^@ NM_172337.2(OTX2):c.*933C>T http://identifiers.org/clinvar/313410 ^@ NM_172337.2(OTX2):c.*764G>A http://identifiers.org/clinvar/313412 ^@ NM_172337.2(OTX2):c.*647A>G http://identifiers.org/clinvar/313417 ^@ NM_172337.2(OTX2):c.435C>T (p.Ser145=) http://identifiers.org/clinvar/313418 ^@ NM_172337.2(OTX2):c.356G>T (p.Arg119Leu) http://identifiers.org/clinvar/307339 ^@ NM_005996.3(TBX3):c.*529G>A http://identifiers.org/clinvar/307344 ^@ NM_005996.3(TBX3):c.*397A>C http://identifiers.org/clinvar/313426 ^@ NM_007374.2(SIX6):c.-161T>C http://identifiers.org/clinvar/324690 ^@ NM_004655.3(AXIN2):c.-165C>T http://identifiers.org/clinvar/324694 ^@ NM_004655.3(AXIN2):c.-281C>T http://identifiers.org/clinvar/324772 ^@ NM_031220.3(PITPNM3):c.22+15G>C http://identifiers.org/clinvar/324774 ^@ NM_031220.3(PITPNM3):c.-40A>C http://identifiers.org/clinvar/307350 ^@ NM_005996.3(TBX3):c.*15C>G http://identifiers.org/clinvar/307352 ^@ NM_005996.3(TBX3):c.*12A>T http://identifiers.org/clinvar/307353 ^@ NM_005996.3(TBX3):c.2082A>G (p.Lys694=) http://identifiers.org/clinvar/313432 ^@ NM_007374.2(SIX6):c.607C>T (p.Arg203Trp) http://identifiers.org/clinvar/313433 ^@ NM_007374.2(SIX6):c.636G>C (p.Thr212=) http://identifiers.org/clinvar/307358 ^@ NM_005996.3(TBX3):c.1783T>G (p.Ser595Ala) http://identifiers.org/clinvar/324780 ^@ NM_002734.4(PRKAR1A):c.-6-7C>T http://identifiers.org/clinvar/307361 ^@ NM_005996.3(TBX3):c.1656G>A (p.Gly552=) http://identifiers.org/clinvar/324789 ^@ NM_002734.4(PRKAR1A):c.*526G>A http://identifiers.org/clinvar/306298 ^@ NM_020376.3(PNPLA2):c.683C>T (p.Pro228Leu) http://identifiers.org/clinvar/324795 ^@ NM_002734.4(PRKAR1A):c.*724T>A http://identifiers.org/clinvar/324796 ^@ NM_002734.4(PRKAR1A):c.*759C>T http://identifiers.org/clinvar/324797 ^@ NM_002734.4(PRKAR1A):c.*795G>T http://identifiers.org/clinvar/324815 ^@ NM_002734.4(PRKAR1A):c.*1842A>T http://identifiers.org/clinvar/306308 ^@ NM_020376.3(PNPLA2):c.1466G>T (p.Ser489Ile) http://identifiers.org/clinvar/306311 ^@ NM_020376.3(PNPLA2):c.*288C>T http://identifiers.org/clinvar/306315 ^@ NM_020376.3(PNPLA2):c.*567G>C http://identifiers.org/clinvar/306318 ^@ NM_032273.3(TMEM126A):c.-142C>T http://identifiers.org/clinvar/306330 ^@ NM_012193.3(FZD4):c.*4883G>T http://identifiers.org/clinvar/307364 ^@ NM_005996.3(TBX3):c.1269G>A (p.Ser423=) http://identifiers.org/clinvar/324818 ^@ NM_002734.4(PRKAR1A):c.*2072G>A http://identifiers.org/clinvar/324822 ^@ NM_000891.2(KCNJ2):c.-349C>A http://identifiers.org/clinvar/307366 ^@ NM_005996.3(TBX3):c.1236G>T (p.Ser412=) http://identifiers.org/clinvar/307368 ^@ NM_005996.3(TBX3):c.1101C>G (p.Pro367=) http://identifiers.org/clinvar/306332 ^@ NM_012193.3(FZD4):c.*4775C>T http://identifiers.org/clinvar/324823 ^@ NM_000891.2(KCNJ2):c.-314T>C http://identifiers.org/clinvar/324827 ^@ NM_000891.2(KCNJ2):c.-162delAinsTCAGAGTAGT http://identifiers.org/clinvar/306333 ^@ NM_012193.3(FZD4):c.*4765T>C http://identifiers.org/clinvar/306337 ^@ NM_012193.3(FZD4):c.*4518C>G http://identifiers.org/clinvar/313436 ^@ NM_007374.2(SIX6):c.*101C>G http://identifiers.org/clinvar/324829 ^@ NM_000891.2(KCNJ2):c.-2C>T http://identifiers.org/clinvar/324830 ^@ NM_000891.2(KCNJ2):c.119G>A (p.Arg40Gln) http://identifiers.org/clinvar/313438 ^@ NM_007374.2(SIX6):c.*232C>T http://identifiers.org/clinvar/313441 ^@ NM_005982.3(SIX1):c.*1571T>C http://identifiers.org/clinvar/324837 ^@ NM_000891.2(KCNJ2):c.*211T>C http://identifiers.org/clinvar/313448 ^@ NM_005982.3(SIX1):c.*890_*896delCTAGTTT http://identifiers.org/clinvar/306341 ^@ NM_012193.3(FZD4):c.*4196A>G http://identifiers.org/clinvar/307369 ^@ NM_005996.3(TBX3):c.1094A>G (p.His365Arg) http://identifiers.org/clinvar/307376 ^@ NM_005996.3(TBX3):c.324G>A (p.Glu108=) http://identifiers.org/clinvar/307381 ^@ NM_005996.3(TBX3):c.-181delC http://identifiers.org/clinvar/306342 ^@ NM_012193.3(FZD4):c.*4171A>T http://identifiers.org/clinvar/324838 ^@ NM_000891.2(KCNJ2):c.*213G>A http://identifiers.org/clinvar/324839 ^@ NM_000891.2(KCNJ2):c.*324delT http://identifiers.org/clinvar/324840 ^@ NM_000891.2(KCNJ2):c.*558C>T http://identifiers.org/clinvar/324841 ^@ NM_000891.2(KCNJ2):c.*596T>A http://identifiers.org/clinvar/324844 ^@ NM_000891.2(KCNJ2):c.*687A>C http://identifiers.org/clinvar/307388 ^@ NM_005996.3(TBX3):c.-326G>T http://identifiers.org/clinvar/324849 ^@ NM_000891.2(KCNJ2):c.*1069C>T http://identifiers.org/clinvar/306344 ^@ NM_012193.3(FZD4):c.*4079G>A http://identifiers.org/clinvar/324851 ^@ NM_000891.2(KCNJ2):c.*1128dupT http://identifiers.org/clinvar/307391 ^@ NM_005996.3(TBX3):c.-378T>A http://identifiers.org/clinvar/324853 ^@ NM_000891.2(KCNJ2):c.*1251C>T http://identifiers.org/clinvar/307405 ^@ NM_005996.3(TBX3):c.-873_-872delTC http://identifiers.org/clinvar/307401 ^@ NM_005996.3(TBX3):c.-875_-872dupTCTC http://identifiers.org/clinvar/324856 ^@ NM_000891.2(KCNJ2):c.*1367T>C http://identifiers.org/clinvar/307407 ^@ NM_005996.3(TBX3):c.-877_-872dupTCTCTC http://identifiers.org/clinvar/324861 ^@ NM_000891.2(KCNJ2):c.*1678dupT http://identifiers.org/clinvar/313449 ^@ NM_005982.3(SIX1):c.*767A>T http://identifiers.org/clinvar/306347 ^@ NM_012193.3(FZD4):c.*4018T>C http://identifiers.org/clinvar/313469 ^@ NM_005982.3(SIX1):c.-121C>G http://identifiers.org/clinvar/324864 ^@ NM_000891.2(KCNJ2):c.*1704_*1705dupCT http://identifiers.org/clinvar/324870 ^@ NM_000891.2(KCNJ2):c.*2001A>G http://identifiers.org/clinvar/313471 ^@ NM_005982.3(SIX1):c.-161G>C http://identifiers.org/clinvar/313473 ^@ NM_005982.3(SIX1):c.-185T>C http://identifiers.org/clinvar/307403 ^@ NM_005996.3(TBX3):c.-883_-872dupTCTCTCTCTCTC http://identifiers.org/clinvar/306361 ^@ NM_012193.3(FZD4):c.*3402G>T http://identifiers.org/clinvar/324883 ^@ NM_000891.2(KCNJ2):c.*2770_*2775delTTTTTT http://identifiers.org/clinvar/313478 ^@ NM_182914.2(SYNE2):c.-169C>T http://identifiers.org/clinvar/307412 ^@ NM_014365.2(HSPB8):c.-314T>C http://identifiers.org/clinvar/324887 ^@ NM_000891.2(KCNJ2):c.*2875_*2876delAT http://identifiers.org/clinvar/324889 ^@ NM_000891.2(KCNJ2):c.*3025G>A http://identifiers.org/clinvar/306363 ^@ NM_012193.3(FZD4):c.*3060delT http://identifiers.org/clinvar/324890 ^@ NM_000891.2(KCNJ2):c.*3163T>A http://identifiers.org/clinvar/307415 ^@ NM_014365.2(HSPB8):c.-172G>C http://identifiers.org/clinvar/307416 ^@ NM_014365.2(HSPB8):c.48G>A (p.Leu16=) http://identifiers.org/clinvar/324892 ^@ NM_000891.2(KCNJ2):c.*3352T>A http://identifiers.org/clinvar/307418 ^@ NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) http://identifiers.org/clinvar/306367 ^@ NM_012193.3(FZD4):c.*2818G>A http://identifiers.org/clinvar/324894 ^@ NM_000891.2(KCNJ2):c.*3391_*3392dupAA http://identifiers.org/clinvar/313481 ^@ NM_182914.2(SYNE2):c.-52+9G>A http://identifiers.org/clinvar/307420 ^@ NM_014365.2(HSPB8):c.*67T>G http://identifiers.org/clinvar/324895 ^@ NM_000891.2(KCNJ2):c.*3463delA http://identifiers.org/clinvar/313484 ^@ NM_182914.2(SYNE2):c.353A>T (p.Asp118Val) http://identifiers.org/clinvar/324897 ^@ NM_000891.2(KCNJ2):c.*3536C>T http://identifiers.org/clinvar/307434 ^@ NM_000017.3(ACADS):c.-56C>T http://identifiers.org/clinvar/324899 ^@ NM_000346.3(SOX9):c.-284G>A http://identifiers.org/clinvar/307445 ^@ NM_000017.3(ACADS):c.*115G>A http://identifiers.org/clinvar/307451 ^@ NM_000017.3(ACADS):c.*387A>G http://identifiers.org/clinvar/306374 ^@ NM_012193.3(FZD4):c.*2542T>C http://identifiers.org/clinvar/306378 ^@ NM_012193.3(FZD4):c.*2181C>T http://identifiers.org/clinvar/306381 ^@ NM_012193.3(FZD4):c.*2047C>T http://identifiers.org/clinvar/307452 ^@ NM_000017.3(ACADS):c.*500G>A http://identifiers.org/clinvar/313485 ^@ NM_182914.2(SYNE2):c.418C>G (p.Leu140Val) http://identifiers.org/clinvar/307457 ^@ NM_000545.6(HNF1A):c.264G>A (p.Glu88=) http://identifiers.org/clinvar/307458 ^@ NM_000545.6(HNF1A):c.327-14T>C http://identifiers.org/clinvar/313490 ^@ NM_182914.2(SYNE2):c.1844T>C (p.Phe615Ser) http://identifiers.org/clinvar/324900 ^@ NM_000346.3(SOX9):c.-219C>T http://identifiers.org/clinvar/324901 ^@ NM_000346.3(SOX9):c.-203C>G http://identifiers.org/clinvar/307459 ^@ NM_000545.6(HNF1A):c.336G>A (p.Pro112=) http://identifiers.org/clinvar/307460 ^@ NM_000545.6(HNF1A):c.693G>A (p.Thr231=) http://identifiers.org/clinvar/307464 ^@ NM_000545.6(HNF1A):c.*197G>T http://identifiers.org/clinvar/324912 ^@ NM_000346.3(SOX9):c.393C>T (p.His131=) http://identifiers.org/clinvar/306382 ^@ NM_012193.3(FZD4):c.*1932G>C http://identifiers.org/clinvar/324916 ^@ NM_000346.3(SOX9):c.986C>T (p.Ala329Val) http://identifiers.org/clinvar/306388 ^@ NM_012193.3(FZD4):c.*947G>A http://identifiers.org/clinvar/307484 ^@ NM_002150.2(HPD):c.498G>A (p.Met166Ile) http://identifiers.org/clinvar/324918 ^@ NM_000346.3(SOX9):c.1029_1031dupGCC (p.Pro346_Gln347insPro) http://identifiers.org/clinvar/307486 ^@ NM_002150.2(HPD):c.338G>A (p.Arg113Gln) http://identifiers.org/clinvar/313493 ^@ NM_182914.2(SYNE2):c.2194C>A (p.Gln732Lys) http://identifiers.org/clinvar/313497 ^@ NM_182914.2(SYNE2):c.2803T>C (p.Leu935=) http://identifiers.org/clinvar/324925 ^@ NM_000346.3(SOX9):c.*248A>G http://identifiers.org/clinvar/324926 ^@ NM_000346.3(SOX9):c.*335G>A http://identifiers.org/clinvar/324927 ^@ NM_000346.3(SOX9):c.*407A>G http://identifiers.org/clinvar/307488 ^@ NM_002150.2(HPD):c.211C>G (p.Leu71Val) http://identifiers.org/clinvar/307496 ^@ NM_152269.4(C12orf65):c.90G>A (p.Thr30=) http://identifiers.org/clinvar/307497 ^@ NM_152269.4(C12orf65):c.112G>A (p.Val38Ile) http://identifiers.org/clinvar/313499 ^@ NM_182914.2(SYNE2):c.3054A>C (p.Leu1018=) http://identifiers.org/clinvar/313500 ^@ NM_182914.2(SYNE2):c.3102C>T (p.Ser1034=) http://identifiers.org/clinvar/324928 ^@ NM_000346.3(SOX9):c.*495T>G http://identifiers.org/clinvar/324929 ^@ NM_000346.3(SOX9):c.*744dupA http://identifiers.org/clinvar/313513 ^@ NM_182914.2(SYNE2):c.5187T>A (p.His1729Gln) http://identifiers.org/clinvar/313515 ^@ NM_182914.2(SYNE2):c.5534A>G (p.Lys1845Arg) http://identifiers.org/clinvar/306395 ^@ NM_012193.3(FZD4):c.*538G>A http://identifiers.org/clinvar/324933 ^@ NM_000346.3(SOX9):c.*926T>C http://identifiers.org/clinvar/307503 ^@ NM_152269.4(C12orf65):c.*211C>T http://identifiers.org/clinvar/324936 ^@ NM_000346.3(SOX9):c.*1005C>T http://identifiers.org/clinvar/324942 ^@ NM_000346.3(SOX9):c.*1523_*1528delGGTGTG http://identifiers.org/clinvar/307505 ^@ NM_152269.4(C12orf65):c.*454A>C http://identifiers.org/clinvar/306397 ^@ NM_012193.3(FZD4):c.*203A>G http://identifiers.org/clinvar/306398 ^@ NM_012193.3(FZD4):c.*154C>T http://identifiers.org/clinvar/307511 ^@ NM_152269.4(C12orf65):c.*706_*709delCAGT http://identifiers.org/clinvar/307515 ^@ NM_001414.3(EIF2B1):c.*665C>T http://identifiers.org/clinvar/313518 ^@ NM_182914.2(SYNE2):c.5696A>G (p.Lys1899Arg) http://identifiers.org/clinvar/324950 ^@ NM_000346.3(SOX9):c.*1988_*1989delTT http://identifiers.org/clinvar/307524 ^@ NM_001414.3(EIF2B1):c.*355G>A http://identifiers.org/clinvar/324981 ^@ NM_000018.3(ACADVL):c.-36A>G http://identifiers.org/clinvar/324989 ^@ NM_000018.3(ACADVL):c.751A>G (p.Ser251Gly) http://identifiers.org/clinvar/307531 ^@ NM_001414.3(EIF2B1):c.-85G>A http://identifiers.org/clinvar/324997 ^@ NM_000018.3(ACADVL):c.1932G>A (p.Arg644=) http://identifiers.org/clinvar/324998 ^@ NM_000018.3(ACADVL):c.*32T>G http://identifiers.org/clinvar/306400 ^@ NM_012193.3(FZD4):c.*6G>A http://identifiers.org/clinvar/324956 ^@ NM_018714.2(COG1):c.87G>C (p.Glu29Asp) http://identifiers.org/clinvar/324959 ^@ NM_018714.2(COG1):c.303G>A (p.Pro101=) http://identifiers.org/clinvar/324961 ^@ NM_018714.2(COG1):c.522T>C (p.Pro174=) http://identifiers.org/clinvar/307538 ^@ NM_001414.3(EIF2B1):c.-183C>G http://identifiers.org/clinvar/307540 ^@ NM_001414.3(EIF2B1):c.-208G>A http://identifiers.org/clinvar/306403 ^@ NM_012193.3(FZD4):c.1541C>T (p.Ser514Phe) http://identifiers.org/clinvar/324962 ^@ NM_018714.2(COG1):c.542C>T (p.Ala181Val) http://identifiers.org/clinvar/307542 ^@ NM_024809.4(TCTN2):c.-55C>A http://identifiers.org/clinvar/324966 ^@ NM_018714.2(COG1):c.1011C>G (p.Thr337=) http://identifiers.org/clinvar/313520 ^@ NM_182914.2(SYNE2):c.5987T>C (p.Leu1996Ser) http://identifiers.org/clinvar/324977 ^@ NM_018714.2(COG1):c.2806-13C>T http://identifiers.org/clinvar/313521 ^@ NM_182914.2(SYNE2):c.6071C>T (p.Thr2024Ile) http://identifiers.org/clinvar/313523 ^@ NM_182914.2(SYNE2):c.6330G>A (p.Pro2110=) http://identifiers.org/clinvar/313525 ^@ NM_182914.2(SYNE2):c.6664C>G (p.Pro2222Ala) http://identifiers.org/clinvar/306413 ^@ NM_012193.3(FZD4):c.-255G>T http://identifiers.org/clinvar/307545 ^@ NM_024809.4(TCTN2):c.500C>T (p.Pro167Leu) http://identifiers.org/clinvar/307555 ^@ NM_024809.4(TCTN2):c.887C>T (p.Pro296Leu) http://identifiers.org/clinvar/324978 ^@ NM_018714.2(COG1):c.2900C>G (p.Pro967Arg) http://identifiers.org/clinvar/307556 ^@ NM_024809.4(TCTN2):c.888G>A (p.Pro296=) http://identifiers.org/clinvar/325003 ^@ NM_023036.4(DNAI2):c.-21C>T http://identifiers.org/clinvar/325005 ^@ NM_023036.4(DNAI2):c.-4C>T http://identifiers.org/clinvar/313530 ^@ NM_182914.2(SYNE2):c.7010G>A (p.Cys2337Tyr) http://identifiers.org/clinvar/325009 ^@ NM_023036.4(DNAI2):c.468-4G>T http://identifiers.org/clinvar/325012 ^@ NM_023036.4(DNAI2):c.611-3T>C http://identifiers.org/clinvar/307558 ^@ NM_024809.4(TCTN2):c.1712C>T (p.Ser571Leu) http://identifiers.org/clinvar/306423 ^@ NM_001814.5(CTSC):c.872G>A (p.Cys291Tyr) http://identifiers.org/clinvar/306425 ^@ NM_001814.5(CTSC):c.757+6A>T http://identifiers.org/clinvar/306427 ^@ NM_001814.5(CTSC):c.565A>G (p.Thr189Ala) http://identifiers.org/clinvar/325016 ^@ NM_023036.4(DNAI2):c.1000A>G (p.Met334Val) http://identifiers.org/clinvar/325021 ^@ NM_023036.4(DNAI2):c.1552C>T (p.Arg518Trp) http://identifiers.org/clinvar/325023 ^@ NM_023036.4(DNAI2):c.1660G>A (p.Asp554Asn) http://identifiers.org/clinvar/325026 ^@ NM_023036.4(DNAI2):c.*55+6G>A http://identifiers.org/clinvar/307559 ^@ NM_024809.4(TCTN2):c.1818C>G (p.His606Gln) http://identifiers.org/clinvar/307560 ^@ NM_024809.4(TCTN2):c.1848C>T (p.Ser616=) http://identifiers.org/clinvar/307562 ^@ NM_024809.4(TCTN2):c.*45G>A http://identifiers.org/clinvar/313531 ^@ NM_182914.2(SYNE2):c.7467G>C (p.Leu2489Phe) http://identifiers.org/clinvar/306431 ^@ NM_001814.5(CTSC):c.173-7dupT http://identifiers.org/clinvar/306441 ^@ NM_000372.4(TYR):c.-41A>G http://identifiers.org/clinvar/325076 ^@ NM_000747.2(CHRNB1):c.305G>C (p.Arg102Pro) http://identifiers.org/clinvar/306443 ^@ NM_000372.4(TYR):c.191C>T (p.Pro64Leu) http://identifiers.org/clinvar/313534 ^@ NM_182914.2(SYNE2):c.7872A>C (p.Glu2624Asp) http://identifiers.org/clinvar/325092 ^@ NM_000747.2(CHRNB1):c.680G>A (p.Gly227Glu) http://identifiers.org/clinvar/307571 ^@ NM_012463.3(ATP6V0A2):c.-243C>A http://identifiers.org/clinvar/307575 ^@ NM_012463.3(ATP6V0A2):c.-148C>T http://identifiers.org/clinvar/325104 ^@ NM_000747.2(CHRNB1):c.1087C>A (p.Pro363Thr) http://identifiers.org/clinvar/307581 ^@ NM_012463.3(ATP6V0A2):c.777G>A (p.Arg259=) http://identifiers.org/clinvar/325106 ^@ NM_000747.2(CHRNB1):c.1218-3C>T http://identifiers.org/clinvar/325107 ^@ NM_000747.2(CHRNB1):c.1225C>G (p.Pro409Ala) http://identifiers.org/clinvar/307588 ^@ NM_012463.3(ATP6V0A2):c.1590C>T (p.Pro530=) http://identifiers.org/clinvar/325111 ^@ NM_000747.2(CHRNB1):c.*136T>C http://identifiers.org/clinvar/313536 ^@ NM_182914.2(SYNE2):c.8232G>T (p.Lys2744Asn) http://identifiers.org/clinvar/313544 ^@ NM_182914.2(SYNE2):c.9396G>A (p.Lys3132=) http://identifiers.org/clinvar/307590 ^@ NM_012463.3(ATP6V0A2):c.1724+20delT http://identifiers.org/clinvar/307596 ^@ NM_012463.3(ATP6V0A2):c.2273C>T (p.Ala758Val) http://identifiers.org/clinvar/307598 ^@ NM_012463.3(ATP6V0A2):c.2505C>G (p.Thr835=) http://identifiers.org/clinvar/307599 ^@ NM_012463.3(ATP6V0A2):c.2542A>G (p.Lys848Glu) http://identifiers.org/clinvar/306449 ^@ NM_005591.3(MRE11):c.*2662A>G http://identifiers.org/clinvar/306453 ^@ NM_005591.3(MRE11):c.*2320T>C http://identifiers.org/clinvar/307600 ^@ NM_012463.3(ATP6V0A2):c.*60dupT http://identifiers.org/clinvar/307605 ^@ NM_012463.3(ATP6V0A2):c.*574C>T http://identifiers.org/clinvar/313545 ^@ NM_182914.2(SYNE2):c.9396G>C (p.Lys3132Asn) http://identifiers.org/clinvar/325029 ^@ NM_173477.4(USH1G):c.*1903_*1905dupCAG http://identifiers.org/clinvar/306454 ^@ NM_005591.3(MRE11):c.*2296A>G http://identifiers.org/clinvar/325032 ^@ NM_173477.4(USH1G):c.*1719G>T http://identifiers.org/clinvar/325040 ^@ NM_173477.4(USH1G):c.*1093G= http://identifiers.org/clinvar/306461 ^@ NM_005591.3(MRE11):c.*1661A>C http://identifiers.org/clinvar/325041 ^@ NM_173477.4(USH1G):c.*1053G>A http://identifiers.org/clinvar/325054 ^@ NM_173477.4(USH1G):c.563G>T (p.Arg188Leu) http://identifiers.org/clinvar/307606 ^@ NM_012463.3(ATP6V0A2):c.*577C>T http://identifiers.org/clinvar/313549 ^@ NM_182914.2(SYNE2):c.9873A>G (p.Glu3291=) http://identifiers.org/clinvar/318179 ^@ NM_002474.2(MYH11):c.-67C>T http://identifiers.org/clinvar/318198 ^@ NM_014714.3(IFT140):c.925G>A (p.Glu309Lys) http://identifiers.org/clinvar/316424 ^@ NM_014985.3(CEP152):c.1258A>T (p.Ile420Phe) http://identifiers.org/clinvar/318200 ^@ NM_014714.3(IFT140):c.867C>G (p.Ser289Arg) http://identifiers.org/clinvar/316431 ^@ NM_014985.3(CEP152):c.644G>A (p.Ser215Asn) http://identifiers.org/clinvar/318209 ^@ NM_014714.3(IFT140):c.635-12G>C http://identifiers.org/clinvar/318210 ^@ NM_014714.3(IFT140):c.546C>T (p.Asp182=) http://identifiers.org/clinvar/325926 ^@ NM_001139.2(ALOX12B):c.144G>A (p.Gly48=) http://identifiers.org/clinvar/316432 ^@ NM_014985.3(CEP152):c.35T>C (p.Val12Ala) http://identifiers.org/clinvar/325931 ^@ NM_001139.2(ALOX12B):c.39C>T (p.Asp13=) http://identifiers.org/clinvar/318213 ^@ NM_014714.3(IFT140):c.459G>T (p.Thr153=) http://identifiers.org/clinvar/325934 ^@ NM_001139.2(ALOX12B):c.-155T>C http://identifiers.org/clinvar/316443 ^@ NM_031226.2(CYP19A1):c.*2274A>G http://identifiers.org/clinvar/316450 ^@ NM_031226.2(CYP19A1):c.*2032G>A http://identifiers.org/clinvar/318216 ^@ NM_014714.3(IFT140):c.298C>G (p.Leu100Val) http://identifiers.org/clinvar/325939 ^@ NM_001139.2(ALOX12B):c.-212C>T http://identifiers.org/clinvar/325941 ^@ NM_021628.2(ALOXE3):c.*669T>G http://identifiers.org/clinvar/316458 ^@ NM_031226.2(CYP19A1):c.*858C>T http://identifiers.org/clinvar/318222 ^@ NM_014714.3(IFT140):c.-6T>A http://identifiers.org/clinvar/325942 ^@ NM_021628.2(ALOXE3):c.*641C>T http://identifiers.org/clinvar/316469 ^@ NM_031226.2(CYP19A1):c.*19C>T http://identifiers.org/clinvar/318224 ^@ NM_014714.3(IFT140):c.-221-6T>A http://identifiers.org/clinvar/325943 ^@ NM_021628.2(ALOXE3):c.*618T>C http://identifiers.org/clinvar/325944 ^@ NM_021628.2(ALOXE3):c.*538G>A http://identifiers.org/clinvar/318226 ^@ NM_014714.3(IFT140):c.-328C>T http://identifiers.org/clinvar/318228 ^@ NM_004970.2(IGFALS):c.*155T>G http://identifiers.org/clinvar/325947 ^@ NM_021628.2(ALOXE3):c.*392G>A http://identifiers.org/clinvar/325954 ^@ NM_021628.2(ALOXE3):c.*24A>G http://identifiers.org/clinvar/318231 ^@ NM_004970.2(IGFALS):c.1795G>A (p.Glu599Lys) http://identifiers.org/clinvar/325955 ^@ NM_021628.2(ALOXE3):c.2032C>T (p.Arg678Cys) http://identifiers.org/clinvar/316477 ^@ NM_031226.2(CYP19A1):c.240A>G (p.Val80=) http://identifiers.org/clinvar/318240 ^@ NM_004970.2(IGFALS):c.1414G>C (p.Glu472Gln) http://identifiers.org/clinvar/316485 ^@ NM_182758.3(WDR72):c.*3852T>G http://identifiers.org/clinvar/318244 ^@ NM_004970.2(IGFALS):c.1173G>A (p.Leu391=) http://identifiers.org/clinvar/316493 ^@ NM_182758.3(WDR72):c.*3511A>G http://identifiers.org/clinvar/325962 ^@ NM_021628.2(ALOXE3):c.1706C>A (p.Thr569Asn) http://identifiers.org/clinvar/318246 ^@ NM_004970.2(IGFALS):c.1031C>T (p.Thr344Met) http://identifiers.org/clinvar/325965 ^@ NM_021628.2(ALOXE3):c.1626G>A (p.Glu542=) http://identifiers.org/clinvar/318250 ^@ NM_004970.2(IGFALS):c.861C>T (p.Pro287=) http://identifiers.org/clinvar/318251 ^@ NM_004970.2(IGFALS):c.827A>G (p.Asn276Ser) http://identifiers.org/clinvar/316497 ^@ NM_182758.3(WDR72):c.*3164T>C http://identifiers.org/clinvar/325967 ^@ NM_021628.2(ALOXE3):c.1543A>G (p.Ile515Val) http://identifiers.org/clinvar/325971 ^@ NM_021628.2(ALOXE3):c.1107C>T (p.Ser369=) http://identifiers.org/clinvar/318252 ^@ NM_004970.2(IGFALS):c.801G>A (p.Ala267=) http://identifiers.org/clinvar/318257 ^@ NM_004970.2(IGFALS):c.605C>T (p.Ala202Val) http://identifiers.org/clinvar/318263 ^@ NM_004970.2(IGFALS):c.246C>T (p.Asp82=) http://identifiers.org/clinvar/318268 ^@ NM_004970.2(IGFALS):c.99G>A (p.Pro33=) http://identifiers.org/clinvar/318269 ^@ NM_004970.2(IGFALS):c.91G>A (p.Gly31Arg) http://identifiers.org/clinvar/325973 ^@ NM_021628.2(ALOXE3):c.799C>T (p.His267Tyr) http://identifiers.org/clinvar/318270 ^@ NM_004970.2(IGFALS):c.65C>T (p.Pro22Leu) http://identifiers.org/clinvar/316501 ^@ NM_182758.3(WDR72):c.*2919T>G http://identifiers.org/clinvar/325982 ^@ NM_021628.2(ALOXE3):c.-300C>G http://identifiers.org/clinvar/325858 ^@ NM_002602.3(PDE6G):c.*233T>C http://identifiers.org/clinvar/325859 ^@ NM_002602.3(PDE6G):c.*167delG http://identifiers.org/clinvar/325860 ^@ NM_002602.3(PDE6G):c.*45G>A http://identifiers.org/clinvar/318272 ^@ NM_004970.2(IGFALS):c.17-5C>A http://identifiers.org/clinvar/318275 ^@ NM_004970.2(IGFALS):c.-53A>G http://identifiers.org/clinvar/325861 ^@ NM_002602.3(PDE6G):c.14C>T (p.Pro5Leu) http://identifiers.org/clinvar/316506 ^@ NM_182758.3(WDR72):c.*2689_*2690dupAT http://identifiers.org/clinvar/318276 ^@ NM_003361.3(UMOD):c.*231A>G http://identifiers.org/clinvar/318279 ^@ NM_003361.3(UMOD):c.*104C>T http://identifiers.org/clinvar/316518 ^@ NM_182758.3(WDR72):c.*2633G>A http://identifiers.org/clinvar/318283 ^@ NM_003361.3(UMOD):c.1859dupT (p.Leu620Phefs) http://identifiers.org/clinvar/316521 ^@ NM_182758.3(WDR72):c.*2611_*2612dupGT http://identifiers.org/clinvar/325893 ^@ NM_006907.3(PYCR1):c.*699G>T http://identifiers.org/clinvar/318291 ^@ NM_003361.3(UMOD):c.1177T>C (p.Leu393=) http://identifiers.org/clinvar/318294 ^@ NM_003361.3(UMOD):c.974-15C>G http://identifiers.org/clinvar/316522 ^@ NM_182758.3(WDR72):c.*2609_*2612dupGTGT http://identifiers.org/clinvar/316528 ^@ NM_182758.3(WDR72):c.*2608_*2609insATAT http://identifiers.org/clinvar/318295 ^@ NM_003361.3(UMOD):c.865+7C>G http://identifiers.org/clinvar/325898 ^@ NM_006907.3(PYCR1):c.*272G>A http://identifiers.org/clinvar/318298 ^@ NM_003361.3(UMOD):c.-14delG http://identifiers.org/clinvar/316536 ^@ NM_182758.3(WDR72):c.*2504T>G http://identifiers.org/clinvar/316544 ^@ NM_182758.3(WDR72):c.*1898G>A http://identifiers.org/clinvar/318301 ^@ NM_000548.4(TSC2):c.-87A>G http://identifiers.org/clinvar/325899 ^@ NM_006907.3(PYCR1):c.*195_*196delAG http://identifiers.org/clinvar/318306 ^@ NM_000548.4(TSC2):c.552C>T (p.Val184=) http://identifiers.org/clinvar/318307 ^@ NM_000548.4(TSC2):c.739A>G (p.Ile247Val) http://identifiers.org/clinvar/318309 ^@ NM_000548.4(TSC2):c.1257+8C>A http://identifiers.org/clinvar/318311 ^@ NM_000548.4(TSC2):c.1376G>A (p.Gly459Asp) http://identifiers.org/clinvar/318312 ^@ NM_000548.4(TSC2):c.1600-13C>G http://identifiers.org/clinvar/325905 ^@ NM_006907.3(PYCR1):c.598C>T (p.Arg200Cys) http://identifiers.org/clinvar/318316 ^@ NM_000548.4(TSC2):c.1836G>A (p.Leu612=) http://identifiers.org/clinvar/318317 ^@ NM_000548.4(TSC2):c.1947-4G>A http://identifiers.org/clinvar/316554 ^@ NM_182758.3(WDR72):c.*1478A>T http://identifiers.org/clinvar/318319 ^@ NM_000548.4(TSC2):c.2221C>T (p.Leu741Phe) http://identifiers.org/clinvar/318322 ^@ NM_000548.4(TSC2):c.2372G>T (p.Cys791Phe) http://identifiers.org/clinvar/325908 ^@ NM_006907.3(PYCR1):c.399C>T (p.Thr133=) http://identifiers.org/clinvar/325911 ^@ NM_006907.3(PYCR1):c.261G>A (p.Glu87=) http://identifiers.org/clinvar/318326 ^@ NM_000548.4(TSC2):c.3210G>A (p.Thr1070=) http://identifiers.org/clinvar/318329 ^@ NM_000548.4(TSC2):c.4218C>T (p.Asp1406=) http://identifiers.org/clinvar/316556 ^@ NM_182758.3(WDR72):c.*1325T>C http://identifiers.org/clinvar/318338 ^@ NM_000548.4(TSC2):c.5308C>T (p.Pro1770Ser) http://identifiers.org/clinvar/316557 ^@ NM_182758.3(WDR72):c.*1279G>C http://identifiers.org/clinvar/318341 ^@ NM_000548.4(TSC2):c.*71C>T http://identifiers.org/clinvar/325917 ^@ NM_006907.3(PYCR1):c.110T>G (p.Met37Arg) http://identifiers.org/clinvar/325921 ^@ NM_006907.3(PYCR1):c.-62G>A http://identifiers.org/clinvar/318383 ^@ NM_001089.2(ABCA3):c.*433C>T http://identifiers.org/clinvar/318386 ^@ NM_001089.2(ABCA3):c.*278G>A http://identifiers.org/clinvar/325988 ^@ NM_025099.5(CTC1):c.*2685C>T http://identifiers.org/clinvar/318389 ^@ NM_001089.2(ABCA3):c.*192G>A http://identifiers.org/clinvar/318391 ^@ NM_001089.2(ABCA3):c.5098G>A (p.Ala1700Thr) http://identifiers.org/clinvar/318396 ^@ NM_001089.2(ABCA3):c.4698C>T (p.Ala1566=) http://identifiers.org/clinvar/316558 ^@ NM_182758.3(WDR72):c.*1218T>A http://identifiers.org/clinvar/316559 ^@ NM_182758.3(WDR72):c.*1183G>A http://identifiers.org/clinvar/325992 ^@ NM_025099.5(CTC1):c.*2296T>A http://identifiers.org/clinvar/326001 ^@ NM_025099.5(CTC1):c.*1939G>A http://identifiers.org/clinvar/326002 ^@ NM_025099.5(CTC1):c.*1936A>G http://identifiers.org/clinvar/316560 ^@ NM_182758.3(WDR72):c.*1175G>T http://identifiers.org/clinvar/318405 ^@ NM_001089.2(ABCA3):c.3897C>T (p.Ser1299=) http://identifiers.org/clinvar/318410 ^@ NM_001089.2(ABCA3):c.3565G>A (p.Gly1189Ser) http://identifiers.org/clinvar/326010 ^@ NM_025099.5(CTC1):c.*1844G>A http://identifiers.org/clinvar/326015 ^@ NM_025099.5(CTC1):c.*1594_*1597delTGAC http://identifiers.org/clinvar/318416 ^@ NM_001089.2(ABCA3):c.3312G>T (p.Leu1104=) http://identifiers.org/clinvar/326017 ^@ NM_025099.5(CTC1):c.*1569C>T http://identifiers.org/clinvar/316563 ^@ NM_182758.3(WDR72):c.*1054C>T http://identifiers.org/clinvar/316567 ^@ NM_182758.3(WDR72):c.*898A>G http://identifiers.org/clinvar/318452 ^@ NM_001089.2(ABCA3):c.2679C>T (p.Thr893=) http://identifiers.org/clinvar/318474 ^@ NM_001089.2(ABCA3):c.2415-4T>G http://identifiers.org/clinvar/316582 ^@ NM_182758.3(WDR72):c.3149-10_3149-9delCT http://identifiers.org/clinvar/316595 ^@ NM_182758.3(WDR72):c.1437A>C (p.Gln479His) http://identifiers.org/clinvar/316596 ^@ NM_182758.3(WDR72):c.1394C>G (p.Thr465Ser) http://identifiers.org/clinvar/326023 ^@ NM_025099.5(CTC1):c.*1486C>T http://identifiers.org/clinvar/318487 ^@ NM_001089.2(ABCA3):c.2341G>A (p.Val781Met) http://identifiers.org/clinvar/318489 ^@ NM_001089.2(ABCA3):c.2309C>T (p.Pro770Leu) http://identifiers.org/clinvar/316600 ^@ NM_182758.3(WDR72):c.942G>T (p.Val314=) http://identifiers.org/clinvar/316601 ^@ NM_182758.3(WDR72):c.766C>G (p.Gln256Glu) http://identifiers.org/clinvar/316602 ^@ NM_182758.3(WDR72):c.409C>G (p.Leu137Val) http://identifiers.org/clinvar/318496 ^@ NM_001089.2(ABCA3):c.2119C>T (p.Leu707Phe) http://identifiers.org/clinvar/326027 ^@ NM_025099.5(CTC1):c.*1474G>C http://identifiers.org/clinvar/318497 ^@ NM_001089.2(ABCA3):c.2045G>A (p.Gly682Asp) http://identifiers.org/clinvar/318501 ^@ NM_001089.2(ABCA3):c.1896+5delG http://identifiers.org/clinvar/318504 ^@ NM_001089.2(ABCA3):c.1645G>A (p.Val549Ile) http://identifiers.org/clinvar/318506 ^@ NM_001089.2(ABCA3):c.1584G>A (p.Ala528=) http://identifiers.org/clinvar/326030 ^@ NM_025099.5(CTC1):c.*1438C>G http://identifiers.org/clinvar/326031 ^@ NM_025099.5(CTC1):c.*1286A>G http://identifiers.org/clinvar/318543 ^@ NM_001089.2(ABCA3):c.1465A>T (p.Met489Leu) http://identifiers.org/clinvar/326037 ^@ NM_025099.5(CTC1):c.*1176C>T http://identifiers.org/clinvar/318564 ^@ NM_001089.2(ABCA3):c.873+10C>T http://identifiers.org/clinvar/318565 ^@ NM_001089.2(ABCA3):c.846C>T (p.Val282=) http://identifiers.org/clinvar/326045 ^@ NM_025099.5(CTC1):c.*1105G>A http://identifiers.org/clinvar/318356 ^@ NM_001039.3(SCNN1G):c.1378A>G (p.Lys460Glu) http://identifiers.org/clinvar/316604 ^@ NM_182758.3(WDR72):c.99G>T (p.Val33=) http://identifiers.org/clinvar/316605 ^@ NM_182758.3(WDR72):c.93G>C (p.Thr31=) http://identifiers.org/clinvar/318357 ^@ NM_001039.3(SCNN1G):c.1452C>A (p.Leu484=) http://identifiers.org/clinvar/326055 ^@ NM_025099.5(CTC1):c.*286G>A http://identifiers.org/clinvar/316610 ^@ NM_004580.4(RAB27A):c.*2067C>G http://identifiers.org/clinvar/318373 ^@ NM_001039.3(SCNN1G):c.*789T>C http://identifiers.org/clinvar/326059 ^@ NM_025099.5(CTC1):c.*207T>C http://identifiers.org/clinvar/316624 ^@ NM_004580.4(RAB27A):c.*1594A>G http://identifiers.org/clinvar/326067 ^@ NM_025099.5(CTC1):c.3190A>G (p.Thr1064Ala) http://identifiers.org/clinvar/316627 ^@ NM_004580.4(RAB27A):c.*1427G>A http://identifiers.org/clinvar/326070 ^@ NM_025099.5(CTC1):c.2506T>C (p.Ser836Pro) http://identifiers.org/clinvar/316631 ^@ NM_004580.4(RAB27A):c.*1170T>G http://identifiers.org/clinvar/316632 ^@ NM_004580.4(RAB27A):c.*1156T>G http://identifiers.org/clinvar/318375 ^@ NM_001039.3(SCNN1G):c.*790C>T http://identifiers.org/clinvar/318574 ^@ NM_001089.2(ABCA3):c.213C>T (p.Phe71=) http://identifiers.org/clinvar/318575 ^@ NM_001089.2(ABCA3):c.191A>C (p.Glu64Ala) http://identifiers.org/clinvar/316634 ^@ NM_004580.4(RAB27A):c.*936C>A http://identifiers.org/clinvar/316649 ^@ NM_004580.4(RAB27A):c.213G>T (p.Gln71His) http://identifiers.org/clinvar/318582 ^@ NM_001089.2(ABCA3):c.-120C>T http://identifiers.org/clinvar/318586 ^@ NM_001089.2(ABCA3):c.-182C>T http://identifiers.org/clinvar/316650 ^@ NM_004580.4(RAB27A):c.167G>A (p.Ser56Asn) http://identifiers.org/clinvar/316651 ^@ NM_004580.4(RAB27A):c.-58A>G http://identifiers.org/clinvar/318588 ^@ NM_001089.2(ABCA3):c.-253G>A http://identifiers.org/clinvar/318589 ^@ NM_001089.2(ABCA3):c.-254C>T http://identifiers.org/clinvar/326071 ^@ NM_025099.5(CTC1):c.2439G>A (p.Pro813=) http://identifiers.org/clinvar/326074 ^@ NM_025099.5(CTC1):c.2160C>T (p.Thr720=) http://identifiers.org/clinvar/318590 ^@ NM_001089.2(ABCA3):c.-325G>A http://identifiers.org/clinvar/326079 ^@ NM_025099.5(CTC1):c.1728G>A (p.Pro576=) http://identifiers.org/clinvar/316652 ^@ NM_004580.4(RAB27A):c.-147A>G http://identifiers.org/clinvar/326080 ^@ NM_025099.5(CTC1):c.1500C>T (p.Pro500=) http://identifiers.org/clinvar/318592 ^@ NM_001089.2(ABCA3):c.-356G>A http://identifiers.org/clinvar/326081 ^@ NM_025099.5(CTC1):c.1231T>A (p.Ser411Thr) http://identifiers.org/clinvar/316654 ^@ NM_000236.2(LIPC):c.206C>T (p.Pro69Leu) http://identifiers.org/clinvar/318422 ^@ NM_000336.2(SCNN1B):c.466C>T (p.Arg156Trp) http://identifiers.org/clinvar/326082 ^@ NM_025099.5(CTC1):c.1025A>G (p.Asp342Gly) http://identifiers.org/clinvar/318432 ^@ NM_000336.2(SCNN1B):c.1162C>T (p.Arg388Cys) http://identifiers.org/clinvar/316658 ^@ NM_000236.2(LIPC):c.317C>T (p.Ala106Val) http://identifiers.org/clinvar/326085 ^@ NM_025099.5(CTC1):c.596C>T (p.Thr199Met) http://identifiers.org/clinvar/326087 ^@ NM_025099.5(CTC1):c.366A>G (p.Ala122=) http://identifiers.org/clinvar/318439 ^@ NM_000336.2(SCNN1B):c.1419C>T (p.His473=) http://identifiers.org/clinvar/316661 ^@ NM_000236.2(LIPC):c.575-8C>A http://identifiers.org/clinvar/316662 ^@ NM_000236.2(LIPC):c.575-5A>G http://identifiers.org/clinvar/326091 ^@ NM_025099.5(CTC1):c.13C>G (p.Arg5Gly) http://identifiers.org/clinvar/318440 ^@ NM_000336.2(SCNN1B):c.1514G>A (p.Arg505His) http://identifiers.org/clinvar/318443 ^@ NM_000336.2(SCNN1B):c.1713C>T (p.Tyr571=) http://identifiers.org/clinvar/318445 ^@ NM_000336.2(SCNN1B):c.1883T>A (p.Leu628Gln) http://identifiers.org/clinvar/326106 ^@ NM_006796.2(AFG3L2):c.1426+9A>T http://identifiers.org/clinvar/326110 ^@ NM_006796.2(AFG3L2):c.268A>G (p.Lys90Glu) http://identifiers.org/clinvar/316663 ^@ NM_000236.2(LIPC):c.588G>A (p.Ala196=) http://identifiers.org/clinvar/326112 ^@ NM_006796.2(AFG3L2):c.215-11_215-6delTTTTCT http://identifiers.org/clinvar/316665 ^@ NM_000236.2(LIPC):c.644A>G (p.Asn215Ser) http://identifiers.org/clinvar/316680 ^@ NM_000236.2(LIPC):c.1430G>A (p.Arg477His) http://identifiers.org/clinvar/326114 ^@ NM_006796.2(AFG3L2):c.98A>C (p.Gln33Pro) http://identifiers.org/clinvar/318446 ^@ NM_000336.2(SCNN1B):c.1887C>T (p.Asp629=) http://identifiers.org/clinvar/326123 ^@ NM_000529.2(MC2R):c.*2432A>C http://identifiers.org/clinvar/316681 ^@ NM_000236.2(LIPC):c.1437C>A (p.Thr479=) http://identifiers.org/clinvar/326127 ^@ NM_000529.2(MC2R):c.*2323C>T http://identifiers.org/clinvar/318450 ^@ NM_000336.2(SCNN1B):c.*187G>A http://identifiers.org/clinvar/318464 ^@ NM_153603.3(COG7):c.1973C>G (p.Ala658Gly) http://identifiers.org/clinvar/318605 ^@ NM_001089.2(ABCA3):c.-697G>T http://identifiers.org/clinvar/316683 ^@ NM_001018005.1(TPM1):c.-114G>A http://identifiers.org/clinvar/318481 ^@ NM_153603.3(COG7):c.900C>T (p.Asn300=) http://identifiers.org/clinvar/316685 ^@ NM_001018005.1(TPM1):c.-94G>C http://identifiers.org/clinvar/316686 ^@ NM_001018005.1(TPM1):c.-48C>T http://identifiers.org/clinvar/326129 ^@ NM_000529.2(MC2R):c.*1973dupA http://identifiers.org/clinvar/316688 ^@ NM_001018005.1(TPM1):c.564-5A>T http://identifiers.org/clinvar/326140 ^@ NM_000529.2(MC2R):c.*1537A>G http://identifiers.org/clinvar/318483 ^@ NM_153603.3(COG7):c.835G>A (p.Val279Ile) http://identifiers.org/clinvar/318484 ^@ NM_153603.3(COG7):c.810+6delA http://identifiers.org/clinvar/316689 ^@ NM_001018005.1(TPM1):c.*68A>G http://identifiers.org/clinvar/316693 ^@ NM_001018005.1(TPM1):c.*148G>T http://identifiers.org/clinvar/326145 ^@ NM_000529.2(MC2R):c.*1099A>T http://identifiers.org/clinvar/316697 ^@ NM_000942.4(PPIB):c.*201_*202dupTT http://identifiers.org/clinvar/318511 ^@ NM_001083614.1(EARS2):c.*2105C>G http://identifiers.org/clinvar/318512 ^@ NM_001083614.1(EARS2):c.*1902dupA http://identifiers.org/clinvar/326147 ^@ NM_000529.2(MC2R):c.*1061C>A http://identifiers.org/clinvar/318514 ^@ NM_001083614.1(EARS2):c.*1808G>A http://identifiers.org/clinvar/316703 ^@ NM_000942.4(PPIB):c.364C>T (p.Arg122Cys) http://identifiers.org/clinvar/326150 ^@ NM_000529.2(MC2R):c.*1047_*1048dupGT http://identifiers.org/clinvar/316708 ^@ NM_000942.4(PPIB):c.-91A>C http://identifiers.org/clinvar/318516 ^@ NM_001083614.1(EARS2):c.*1594C>T http://identifiers.org/clinvar/318522 ^@ NM_001083614.1(EARS2):c.*1327A>G http://identifiers.org/clinvar/326159 ^@ NM_000529.2(MC2R):c.*994_*1003delAGAGTGTGTG http://identifiers.org/clinvar/318524 ^@ NM_001083614.1(EARS2):c.*1138G>A http://identifiers.org/clinvar/318529 ^@ NM_001083614.1(EARS2):c.*715G>A http://identifiers.org/clinvar/326160 ^@ NM_000529.2(MC2R):c.*1000T>A http://identifiers.org/clinvar/316709 ^@ NM_000942.4(PPIB):c.-94C>G http://identifiers.org/clinvar/326162 ^@ NM_000529.2(MC2R):c.*994_*999delAGAGTG http://identifiers.org/clinvar/326164 ^@ NM_000529.2(MC2R):c.*998T>A http://identifiers.org/clinvar/316710 ^@ NM_000942.4(PPIB):c.-98C>A http://identifiers.org/clinvar/318530 ^@ NM_001083614.1(EARS2):c.*713T>C http://identifiers.org/clinvar/318542 ^@ NM_001083614.1(EARS2):c.1409A>G (p.Lys470Arg) http://identifiers.org/clinvar/318607 ^@ NM_020705.2(TBC1D24):c.-99C>G http://identifiers.org/clinvar/318614 ^@ NM_020705.2(TBC1D24):c.486T>A (p.Asn162Lys) http://identifiers.org/clinvar/318615 ^@ NM_020705.2(TBC1D24):c.793G>A (p.Val265Met) http://identifiers.org/clinvar/316719 ^@ NM_016630.6(SPG21):c.670-13G>T http://identifiers.org/clinvar/326163 ^@ NM_000529.2(MC2R):c.*997_*998insAGTG http://identifiers.org/clinvar/318616 ^@ NM_020705.2(TBC1D24):c.1020C>T (p.Ser340=) http://identifiers.org/clinvar/318619 ^@ NM_020705.2(TBC1D24):c.1407C>T (p.Pro469=) http://identifiers.org/clinvar/326165 ^@ NM_000529.2(MC2R):c.*996_*997delAG http://identifiers.org/clinvar/326166 ^@ NM_000529.2(MC2R):c.*996A>T http://identifiers.org/clinvar/326168 ^@ NM_000529.2(MC2R):c.*955_*956dupGA http://identifiers.org/clinvar/326169 ^@ NM_000529.2(MC2R):c.*911A>C http://identifiers.org/clinvar/316724 ^@ NM_016630.6(SPG21):c.82G>C (p.Asp28His) http://identifiers.org/clinvar/316728 ^@ NM_016630.6(SPG21):c.-174A>G http://identifiers.org/clinvar/318620 ^@ NM_020705.2(TBC1D24):c.1648C>G (p.Pro550Ala) http://identifiers.org/clinvar/318621 ^@ NM_020705.2(TBC1D24):c.*36G>T http://identifiers.org/clinvar/326171 ^@ NM_000529.2(MC2R):c.*862T>C http://identifiers.org/clinvar/318623 ^@ NM_020705.2(TBC1D24):c.*57C>T http://identifiers.org/clinvar/318642 ^@ NM_020705.2(TBC1D24):c.*1259G>A http://identifiers.org/clinvar/316730 ^@ NM_016630.6(SPG21):c.-241G>C http://identifiers.org/clinvar/316732 ^@ NM_016630.6(SPG21):c.-260A>C http://identifiers.org/clinvar/318644 ^@ NM_020705.2(TBC1D24):c.*1478A>G http://identifiers.org/clinvar/316733 ^@ NM_001101362.2(KBTBD13):c.7C>T (p.Arg3Trp) http://identifiers.org/clinvar/316734 ^@ NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) http://identifiers.org/clinvar/318648 ^@ NM_020705.2(TBC1D24):c.*1691G>A http://identifiers.org/clinvar/326173 ^@ NM_000529.2(MC2R):c.*791A>G http://identifiers.org/clinvar/318652 ^@ NM_020705.2(TBC1D24):c.*1801A>T http://identifiers.org/clinvar/326178 ^@ NM_000529.2(MC2R):c.*535G>C http://identifiers.org/clinvar/316735 ^@ NM_001101362.2(KBTBD13):c.228C>G (p.Asp76Glu) http://identifiers.org/clinvar/326181 ^@ NM_000529.2(MC2R):c.*434T>C http://identifiers.org/clinvar/318656 ^@ NM_020705.2(TBC1D24):c.*1929C>G http://identifiers.org/clinvar/318657 ^@ NM_020705.2(TBC1D24):c.*1954G>A http://identifiers.org/clinvar/318661 ^@ NM_020705.2(TBC1D24):c.*2540delA http://identifiers.org/clinvar/318664 ^@ NM_020705.2(TBC1D24):c.*2598G>C http://identifiers.org/clinvar/326182 ^@ NM_000529.2(MC2R):c.*427G>A http://identifiers.org/clinvar/316736 ^@ NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter) http://identifiers.org/clinvar/316740 ^@ NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) http://identifiers.org/clinvar/318669 ^@ NM_020705.2(TBC1D24):c.*2811A>G http://identifiers.org/clinvar/326191 ^@ NM_000529.2(MC2R):c.833T>G (p.Phe278Cys) http://identifiers.org/clinvar/318672 ^@ NM_020705.2(TBC1D24):c.*2851delC http://identifiers.org/clinvar/318676 ^@ NM_020705.2(TBC1D24):c.*2875dupT http://identifiers.org/clinvar/318683 ^@ NM_020705.2(TBC1D24):c.*3403A>G http://identifiers.org/clinvar/318692 ^@ NM_020705.2(TBC1D24):c.*3712C>T http://identifiers.org/clinvar/326194 ^@ NM_000529.2(MC2R):c.537G>A (p.Thr179=) http://identifiers.org/clinvar/326201 ^@ NM_000529.2(MC2R):c.-129+10T>C http://identifiers.org/clinvar/316747 ^@ NM_001101362.2(KBTBD13):c.844G>A (p.Ala282Thr) http://identifiers.org/clinvar/326205 ^@ NM_002894.2(RBBP8):c.-253G>A http://identifiers.org/clinvar/318704 ^@ NM_020705.2(TBC1D24):c.*4428C>T http://identifiers.org/clinvar/316749 ^@ NM_001101362.2(KBTBD13):c.981C>G (p.Thr327=) http://identifiers.org/clinvar/316752 ^@ NM_001101362.2(KBTBD13):c.*33C>T http://identifiers.org/clinvar/316755 ^@ NM_001101362.2(KBTBD13):c.*114_*115delAC http://identifiers.org/clinvar/318708 ^@ NM_020705.2(TBC1D24):c.*4706A>G http://identifiers.org/clinvar/316756 ^@ NM_001101362.2(KBTBD13):c.*122T>C http://identifiers.org/clinvar/318710 ^@ NM_001042432.1(CLN3):c.*200A>G http://identifiers.org/clinvar/318714 ^@ NM_001042432.1(CLN3):c.*55C>A http://identifiers.org/clinvar/316763 ^@ NM_001101362.2(KBTBD13):c.*846G>T http://identifiers.org/clinvar/316764 ^@ NM_001101362.2(KBTBD13):c.*897A>G http://identifiers.org/clinvar/316766 ^@ NM_001101362.2(KBTBD13):c.*1075C>T http://identifiers.org/clinvar/316769 ^@ NM_001101362.2(KBTBD13):c.*1122C>T http://identifiers.org/clinvar/316771 ^@ NM_001101362.2(KBTBD13):c.*1306T>G http://identifiers.org/clinvar/326209 ^@ NM_002894.2(RBBP8):c.-208G>C http://identifiers.org/clinvar/326214 ^@ NM_002894.2(RBBP8):c.-102G>A http://identifiers.org/clinvar/316772 ^@ NM_001101362.2(KBTBD13):c.*1421C>T http://identifiers.org/clinvar/316776 ^@ NM_001101362.2(KBTBD13):c.*1582C>T http://identifiers.org/clinvar/316780 ^@ NM_004727.2(SLC24A1):c.-182T>C http://identifiers.org/clinvar/326215 ^@ NM_002894.2(RBBP8):c.-83A>G http://identifiers.org/clinvar/316788 ^@ NM_004727.2(SLC24A1):c.134G>A (p.Arg45Gln) http://identifiers.org/clinvar/318715 ^@ NM_001042432.1(CLN3):c.*29A>G http://identifiers.org/clinvar/316795 ^@ NM_004727.2(SLC24A1):c.1488C>T (p.Gly496=) http://identifiers.org/clinvar/318723 ^@ NM_001042432.1(CLN3):c.461-3C>T http://identifiers.org/clinvar/316796 ^@ NM_004727.2(SLC24A1):c.1818C>T (p.Ile606=) http://identifiers.org/clinvar/326217 ^@ NM_002894.2(RBBP8):c.110-15C>T http://identifiers.org/clinvar/316797 ^@ NM_004727.2(SLC24A1):c.1910C>T (p.Ala637Val) http://identifiers.org/clinvar/316798 ^@ NM_004727.2(SLC24A1):c.1945-14C>G http://identifiers.org/clinvar/316801 ^@ NM_004727.2(SLC24A1):c.2183C>T (p.Ala728Val) http://identifiers.org/clinvar/316803 ^@ NM_004727.2(SLC24A1):c.2533G>A (p.Glu845Lys) http://identifiers.org/clinvar/318738 ^@ NM_003321.4(TUFM):c.*300T>G http://identifiers.org/clinvar/316805 ^@ NM_004727.2(SLC24A1):c.2751C>T (p.Ile917=) http://identifiers.org/clinvar/318745 ^@ NM_003321.4(TUFM):c.923-9C>A http://identifiers.org/clinvar/326219 ^@ NM_002894.2(RBBP8):c.348T>C (p.Leu116=) http://identifiers.org/clinvar/318747 ^@ NM_003321.4(TUFM):c.817+13T>C http://identifiers.org/clinvar/316806 ^@ NM_004727.2(SLC24A1):c.2782G>A (p.Val928Ile) http://identifiers.org/clinvar/316812 ^@ NM_004727.2(SLC24A1):c.*349C>T http://identifiers.org/clinvar/316813 ^@ NM_004727.2(SLC24A1):c.*718C>A http://identifiers.org/clinvar/316817 ^@ NM_004727.2(SLC24A1):c.*778C>T http://identifiers.org/clinvar/326222 ^@ NM_002894.2(RBBP8):c.891A>G (p.Glu297=) http://identifiers.org/clinvar/326228 ^@ NM_002894.2(RBBP8):c.1632G>A (p.Thr544=) http://identifiers.org/clinvar/318748 ^@ NM_003321.4(TUFM):c.760G>A (p.Ala254Thr) http://identifiers.org/clinvar/316821 ^@ NM_004727.2(SLC24A1):c.*1363G>A http://identifiers.org/clinvar/316824 ^@ NM_004727.2(SLC24A1):c.*1608C>T http://identifiers.org/clinvar/316826 ^@ NM_004727.2(SLC24A1):c.*1931C>T http://identifiers.org/clinvar/316827 ^@ NM_004727.2(SLC24A1):c.*2027G>A http://identifiers.org/clinvar/316830 ^@ NM_002755.3(MAP2K1):c.-456C>G http://identifiers.org/clinvar/316832 ^@ NM_002755.3(MAP2K1):c.-408G>T http://identifiers.org/clinvar/318754 ^@ NM_003321.4(TUFM):c.427G>A (p.Gly143Ser) http://identifiers.org/clinvar/318755 ^@ NM_003321.4(TUFM):c.248-13T>G http://identifiers.org/clinvar/326229 ^@ NM_002894.2(RBBP8):c.1813-9C>A http://identifiers.org/clinvar/326232 ^@ NM_002894.2(RBBP8):c.2142A>T (p.Ser714=) http://identifiers.org/clinvar/316835 ^@ NM_002755.3(MAP2K1):c.-220C>T http://identifiers.org/clinvar/326236 ^@ NM_002894.2(RBBP8):c.*97G>C http://identifiers.org/clinvar/316836 ^@ NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) http://identifiers.org/clinvar/316845 ^@ NM_002755.3(MAP2K1):c.*657G>A http://identifiers.org/clinvar/318757 ^@ NM_003321.4(TUFM):c.-37C>T http://identifiers.org/clinvar/326238 ^@ NM_002894.2(RBBP8):c.*223C>T http://identifiers.org/clinvar/326239 ^@ NM_000271.4(NPC1):c.*500A>G http://identifiers.org/clinvar/316846 ^@ NM_002755.3(MAP2K1):c.*780T>C http://identifiers.org/clinvar/318758 ^@ NM_003321.4(TUFM):c.-44G>T http://identifiers.org/clinvar/326244 ^@ NM_000271.4(NPC1):c.*202C>T http://identifiers.org/clinvar/318767 ^@ NM_173201.3(ATP2A1):c.220-11C>T http://identifiers.org/clinvar/326245 ^@ NM_000271.4(NPC1):c.*191C>A http://identifiers.org/clinvar/318772 ^@ NM_173201.3(ATP2A1):c.1184+12A>G http://identifiers.org/clinvar/318773 ^@ NM_173201.3(ATP2A1):c.1185-11C>T http://identifiers.org/clinvar/318775 ^@ NM_173201.3(ATP2A1):c.1329A>G (p.Thr443=) http://identifiers.org/clinvar/326247 ^@ NM_000271.4(NPC1):c.*109T>G http://identifiers.org/clinvar/318796 ^@ NM_001770.5(CD19):c.17T>G (p.Leu6Arg) http://identifiers.org/clinvar/318797 ^@ NM_001770.5(CD19):c.171G>A (p.Pro57=) http://identifiers.org/clinvar/326249 ^@ NM_000271.4(NPC1):c.3441C>T (p.Ile1147=) http://identifiers.org/clinvar/318801 ^@ NM_001770.5(CD19):c.395T>G (p.Leu132Arg) http://identifiers.org/clinvar/318803 ^@ NM_001770.5(CD19):c.520C>G (p.Leu174Val) http://identifiers.org/clinvar/316862 ^@ NM_005902.3(SMAD3):c.922C>T (p.Leu308Phe) http://identifiers.org/clinvar/316863 ^@ NM_005902.3(SMAD3):c.1010-12T>C http://identifiers.org/clinvar/316867 ^@ NM_005902.3(SMAD3):c.*250C>A http://identifiers.org/clinvar/326253 ^@ NM_000271.4(NPC1):c.3011C>T (p.Ser1004Leu) http://identifiers.org/clinvar/318812 ^@ NM_001770.5(CD19):c.1580-14C>T http://identifiers.org/clinvar/326256 ^@ NM_000271.4(NPC1):c.2820G>A (p.Ser940=) http://identifiers.org/clinvar/316868 ^@ NM_005902.3(SMAD3):c.*291G>A http://identifiers.org/clinvar/326259 ^@ NM_000271.4(NPC1):c.2661G>A (p.Pro887=) http://identifiers.org/clinvar/316875 ^@ NM_005902.3(SMAD3):c.*495C>A http://identifiers.org/clinvar/326263 ^@ NM_000271.4(NPC1):c.2304C>T (p.Val768=) http://identifiers.org/clinvar/326266 ^@ NM_000271.4(NPC1):c.2090T>C (p.Val697Ala) http://identifiers.org/clinvar/326268 ^@ NM_000271.4(NPC1):c.1947+13G>T http://identifiers.org/clinvar/316876 ^@ NM_005902.3(SMAD3):c.*552G>C http://identifiers.org/clinvar/318826 ^@ NM_000034.3(ALDOA):c.64C>T (p.Arg22Cys) http://identifiers.org/clinvar/318838 ^@ NM_000034.3(ALDOA):c.972G>A (p.Ala324=) http://identifiers.org/clinvar/318843 ^@ NM_000034.3(ALDOA):c.*96C>T http://identifiers.org/clinvar/318850 ^@ NM_006662.2(SRCAP):c.-38T>C http://identifiers.org/clinvar/316878 ^@ NM_005902.3(SMAD3):c.*573G>T http://identifiers.org/clinvar/316880 ^@ NM_005902.3(SMAD3):c.*609A>G http://identifiers.org/clinvar/318851 ^@ NM_006662.2(SRCAP):c.18C>G (p.Ser6=) http://identifiers.org/clinvar/318856 ^@ NM_006662.2(SRCAP):c.391C>G (p.Pro131Ala) http://identifiers.org/clinvar/326272 ^@ NM_000271.4(NPC1):c.1947+11_1947+12insCGG http://identifiers.org/clinvar/326271 ^@ NM_000271.4(NPC1):c.1947+7_1947+11dupCGGGG http://identifiers.org/clinvar/318858 ^@ NM_006662.2(SRCAP):c.1085G>A (p.Arg362Gln) http://identifiers.org/clinvar/326277 ^@ NM_000271.4(NPC1):c.699G>A (p.Glu233=) http://identifiers.org/clinvar/316888 ^@ NM_005902.3(SMAD3):c.*798G>A http://identifiers.org/clinvar/326278 ^@ NM_000271.4(NPC1):c.501A>G (p.Ser167=) http://identifiers.org/clinvar/316889 ^@ NM_005902.3(SMAD3):c.*843G>A http://identifiers.org/clinvar/326279 ^@ NM_000271.4(NPC1):c.233G>A (p.Arg78Gln) http://identifiers.org/clinvar/316891 ^@ NM_005902.3(SMAD3):c.*981C>A http://identifiers.org/clinvar/326281 ^@ NM_000271.4(NPC1):c.-29C>G http://identifiers.org/clinvar/318859 ^@ NM_006662.2(SRCAP):c.1135-14C>T http://identifiers.org/clinvar/316894 ^@ NM_005902.3(SMAD3):c.*1181C>T http://identifiers.org/clinvar/318861 ^@ NM_006662.2(SRCAP):c.1366G>T (p.Ala456Ser) http://identifiers.org/clinvar/316896 ^@ NM_005902.3(SMAD3):c.*1245G>A http://identifiers.org/clinvar/326282 ^@ NM_000271.4(NPC1):c.-31G>A http://identifiers.org/clinvar/316898 ^@ NM_005902.3(SMAD3):c.*1315C>T http://identifiers.org/clinvar/316901 ^@ NM_005902.3(SMAD3):c.*1355C>G http://identifiers.org/clinvar/316906 ^@ NM_005902.3(SMAD3):c.*1548G>T http://identifiers.org/clinvar/316907 ^@ NM_005902.3(SMAD3):c.*1597G>C http://identifiers.org/clinvar/326283 ^@ NM_000271.4(NPC1):c.-32C>T http://identifiers.org/clinvar/326284 ^@ NM_000271.4(NPC1):c.-36A>C http://identifiers.org/clinvar/318862 ^@ NM_006662.2(SRCAP):c.1493-8C>T http://identifiers.org/clinvar/326286 ^@ NM_000271.4(NPC1):c.-135C>T http://identifiers.org/clinvar/318864 ^@ NM_006662.2(SRCAP):c.1863C>T (p.Tyr621=) http://identifiers.org/clinvar/326287 ^@ NM_000271.4(NPC1):c.-154C>T http://identifiers.org/clinvar/326301 ^@ NM_000227.4(LAMA3):c.786+13C>T http://identifiers.org/clinvar/316919 ^@ NM_005902.3(SMAD3):c.*1819C>T http://identifiers.org/clinvar/326307 ^@ NM_000227.4(LAMA3):c.1186C>T (p.Arg396Trp) http://identifiers.org/clinvar/318865 ^@ NM_006662.2(SRCAP):c.1905G>A (p.Lys635=) http://identifiers.org/clinvar/318868 ^@ NM_006662.2(SRCAP):c.2572C>T (p.Arg858Cys) http://identifiers.org/clinvar/316922 ^@ NM_005902.3(SMAD3):c.*1853C>A http://identifiers.org/clinvar/316923 ^@ NM_005902.3(SMAD3):c.*1880C>T http://identifiers.org/clinvar/318871 ^@ NM_006662.2(SRCAP):c.3067C>A (p.Pro1023Thr) http://identifiers.org/clinvar/316925 ^@ NM_005902.3(SMAD3):c.*2026T>C http://identifiers.org/clinvar/326316 ^@ NM_000227.4(LAMA3):c.2638C>T (p.Arg880Trp) http://identifiers.org/clinvar/316927 ^@ NM_005902.3(SMAD3):c.*2038G>T http://identifiers.org/clinvar/326318 ^@ NM_000227.4(LAMA3):c.2692G>A (p.Ala898Thr) http://identifiers.org/clinvar/326320 ^@ NM_000227.4(LAMA3):c.2763T>C (p.Asn921=) http://identifiers.org/clinvar/316940 ^@ NM_005902.3(SMAD3):c.*2453C>A http://identifiers.org/clinvar/326326 ^@ NM_000227.4(LAMA3):c.3277A>G (p.Thr1093Ala) http://identifiers.org/clinvar/318873 ^@ NM_006662.2(SRCAP):c.3293G>C (p.Arg1098Pro) http://identifiers.org/clinvar/316944 ^@ NM_005902.3(SMAD3):c.*2573G>T http://identifiers.org/clinvar/316946 ^@ NM_005902.3(SMAD3):c.*2596G>T http://identifiers.org/clinvar/316949 ^@ NM_005902.3(SMAD3):c.*2963A>C http://identifiers.org/clinvar/318880 ^@ NM_006662.2(SRCAP):c.4041G>A (p.Thr1347=) http://identifiers.org/clinvar/318886 ^@ NM_006662.2(SRCAP):c.5385T>C (p.Val1795=) http://identifiers.org/clinvar/326328 ^@ NM_000227.4(LAMA3):c.3377G>A (p.Arg1126Gln) http://identifiers.org/clinvar/318888 ^@ NM_006662.2(SRCAP):c.5598_5600delGTT (p.Phe1867del) http://identifiers.org/clinvar/318894 ^@ NM_006662.2(SRCAP):c.7157A>G (p.Lys2386Arg) http://identifiers.org/clinvar/318896 ^@ NM_006662.2(SRCAP):c.7459C>A (p.Pro2487Thr) http://identifiers.org/clinvar/316950 ^@ NM_005902.3(SMAD3):c.*2995G>A http://identifiers.org/clinvar/326333 ^@ NM_000227.4(LAMA3):c.3500G>A (p.Gly1167Glu) http://identifiers.org/clinvar/326337 ^@ NM_000227.4(LAMA3):c.3830G>A (p.Arg1277His) http://identifiers.org/clinvar/318898 ^@ NM_006662.2(SRCAP):c.7572C>T (p.Ser2524=) http://identifiers.org/clinvar/326339 ^@ NM_000227.4(LAMA3):c.3881+4G>A http://identifiers.org/clinvar/326344 ^@ NM_000227.4(LAMA3):c.4414C>T (p.Arg1472Cys) http://identifiers.org/clinvar/318901 ^@ NM_006662.2(SRCAP):c.8379C>T (p.Val2793=) http://identifiers.org/clinvar/318906 ^@ NM_006662.2(SRCAP):c.8515G>A (p.Gly2839Ser) http://identifiers.org/clinvar/318907 ^@ NM_006662.2(SRCAP):c.8676T>G (p.Ala2892=) http://identifiers.org/clinvar/318908 ^@ NM_006662.2(SRCAP):c.8703A>G (p.Leu2901=) http://identifiers.org/clinvar/326345 ^@ NM_000227.4(LAMA3):c.4685-11T>C http://identifiers.org/clinvar/326346 ^@ NM_000227.4(LAMA3):c.4762C>T (p.His1588Tyr) http://identifiers.org/clinvar/316953 ^@ NM_005902.3(SMAD3):c.*3126C>T http://identifiers.org/clinvar/326347 ^@ NM_000227.4(LAMA3):c.4816-14C>T http://identifiers.org/clinvar/318910 ^@ NM_006662.2(SRCAP):c.8865C>G (p.Ser2955=) http://identifiers.org/clinvar/326350 ^@ NM_000227.4(LAMA3):c.5110G>C (p.Val1704Leu) http://identifiers.org/clinvar/316954 ^@ NM_005902.3(SMAD3):c.*3144G>T http://identifiers.org/clinvar/326352 ^@ NM_000227.4(LAMA3):c.*89C>A http://identifiers.org/clinvar/316957 ^@ NM_005902.3(SMAD3):c.*3171delT http://identifiers.org/clinvar/326355 ^@ NM_000227.4(LAMA3):c.*239G>A http://identifiers.org/clinvar/316956 ^@ NM_005902.3(SMAD3):c.*3171dupT http://identifiers.org/clinvar/316969 ^@ NM_017882.2(CLN6):c.*887G>T http://identifiers.org/clinvar/318911 ^@ NM_006662.2(SRCAP):c.8886C>T (p.Ser2962=) http://identifiers.org/clinvar/326549 ^@ NM_014646.2(LPIN2):c.*2946G>A http://identifiers.org/clinvar/318913 ^@ NM_006662.2(SRCAP):c.8962A>G (p.Thr2988Ala) http://identifiers.org/clinvar/318915 ^@ NM_006662.2(SRCAP):c.8990C>T (p.Thr2997Ile) http://identifiers.org/clinvar/316973 ^@ NM_017882.2(CLN6):c.*667G>A http://identifiers.org/clinvar/316979 ^@ NM_017882.2(CLN6):c.*264T>C http://identifiers.org/clinvar/318919 ^@ NM_006662.2(SRCAP):c.9297C>T (p.Ser3099=) http://identifiers.org/clinvar/318927 ^@ NM_000294.2(PHKG2):c.-114T>C http://identifiers.org/clinvar/326553 ^@ NM_014646.2(LPIN2):c.*2890_*2893dupTTTC http://identifiers.org/clinvar/326554 ^@ NM_014646.2(LPIN2):c.*2866A>C http://identifiers.org/clinvar/318937 ^@ NM_000294.2(PHKG2):c.393G>A (p.Arg131=) http://identifiers.org/clinvar/318941 ^@ NM_000294.2(PHKG2):c.928-9C>G http://identifiers.org/clinvar/316983 ^@ NM_017882.2(CLN6):c.*175C>T http://identifiers.org/clinvar/318947 ^@ NM_000294.2(PHKG2):c.*1128C>T http://identifiers.org/clinvar/316987 ^@ NM_017882.2(CLN6):c.*157_*160delGTGT http://identifiers.org/clinvar/318949 ^@ NM_000294.2(PHKG2):c.*2532T>C http://identifiers.org/clinvar/318951 ^@ NM_000294.2(PHKG2):c.*3872A>G http://identifiers.org/clinvar/318952 ^@ NM_000294.2(PHKG2):c.*3981T>C http://identifiers.org/clinvar/316985 ^@ NM_017882.2(CLN6):c.*157_*160dupGTGT http://identifiers.org/clinvar/316989 ^@ NM_017882.2(CLN6):c.*132C>T http://identifiers.org/clinvar/316990 ^@ NM_017882.2(CLN6):c.*131G>T http://identifiers.org/clinvar/317001 ^@ NM_014249.3(NR2E3):c.-139G>A http://identifiers.org/clinvar/318954 ^@ NM_001330.3(CTF1):c.228G>A (p.Pro76=) http://identifiers.org/clinvar/318956 ^@ NM_001330.3(CTF1):c.527G>A (p.Arg176His) http://identifiers.org/clinvar/317008 ^@ NM_014249.3(NR2E3):c.321G>A (p.Lys107=) http://identifiers.org/clinvar/317009 ^@ NM_014249.3(NR2E3):c.332C>T (p.Ala111Val) http://identifiers.org/clinvar/318958 ^@ NM_001330.3(CTF1):c.*4C>T http://identifiers.org/clinvar/318962 ^@ NM_001330.3(CTF1):c.*284C>G http://identifiers.org/clinvar/318963 ^@ NM_001330.3(CTF1):c.*395C>T http://identifiers.org/clinvar/317021 ^@ NM_014249.3(NR2E3):c.*101T>C http://identifiers.org/clinvar/317027 ^@ NM_014249.3(NR2E3):c.*453G>T http://identifiers.org/clinvar/318968 ^@ NM_001330.3(CTF1):c.*766T>C http://identifiers.org/clinvar/317035 ^@ NM_000520.5(HEXA):c.*515G>A http://identifiers.org/clinvar/326570 ^@ NM_014646.2(LPIN2):c.*2390C>T http://identifiers.org/clinvar/326571 ^@ NM_014646.2(LPIN2):c.*2241T>C http://identifiers.org/clinvar/318969 ^@ NM_001330.3(CTF1):c.*877C>G http://identifiers.org/clinvar/318976 ^@ NM_024006.5(VKORC1):c.267A>T (p.Thr89=) http://identifiers.org/clinvar/317036 ^@ NM_000520.5(HEXA):c.*436C>T http://identifiers.org/clinvar/317039 ^@ NM_000520.5(HEXA):c.*76G>A http://identifiers.org/clinvar/317042 ^@ NM_000520.5(HEXA):c.1216C>T (p.Leu406=) http://identifiers.org/clinvar/318990 ^@ NM_004960.3(FUS):c.1156C>A (p.Arg386=) http://identifiers.org/clinvar/318991 ^@ NM_004960.3(FUS):c.1181G>T (p.Arg394Leu) http://identifiers.org/clinvar/317043 ^@ NM_000520.5(HEXA):c.1107C>T (p.Gly369=) http://identifiers.org/clinvar/326575 ^@ NM_014646.2(LPIN2):c.*2076C>A http://identifiers.org/clinvar/326576 ^@ NM_014646.2(LPIN2):c.*1874C>G http://identifiers.org/clinvar/318994 ^@ NM_004960.3(FUS):c.*196C>T http://identifiers.org/clinvar/318998 ^@ NM_004960.3(FUS):c.*408A>C http://identifiers.org/clinvar/317044 ^@ NM_000520.5(HEXA):c.1033G>A (p.Gly345Ser) http://identifiers.org/clinvar/317047 ^@ NM_000520.5(HEXA):c.271G>A (p.Glu91Lys) http://identifiers.org/clinvar/317053 ^@ NM_000520.5(HEXA):c.-167G>A http://identifiers.org/clinvar/318999 ^@ NM_004960.3(FUS):c.*415A>T http://identifiers.org/clinvar/319000 ^@ NM_004960.3(FUS):c.*491T>G http://identifiers.org/clinvar/317055 ^@ NM_000520.5(HEXA):c.-207A>G http://identifiers.org/clinvar/317059 ^@ NM_033028.4(BBS4):c.275C>T (p.Thr92Ile) http://identifiers.org/clinvar/319005 ^@ NM_004960.3(FUS):c.*805C>G http://identifiers.org/clinvar/319007 ^@ NM_004960.3(FUS):c.*926T>G http://identifiers.org/clinvar/319013 ^@ NM_004960.3(FUS):c.*1273C>T http://identifiers.org/clinvar/317060 ^@ NM_033028.4(BBS4):c.587+1G>A http://identifiers.org/clinvar/326578 ^@ NM_014646.2(LPIN2):c.*1742A>G http://identifiers.org/clinvar/326598 ^@ NM_014646.2(LPIN2):c.*903T>A http://identifiers.org/clinvar/317065 ^@ NM_033028.4(BBS4):c.1376A>G (p.Gln459Arg) http://identifiers.org/clinvar/317067 ^@ NM_033028.4(BBS4):c.1451-6dupT http://identifiers.org/clinvar/317073 ^@ NM_033028.4(BBS4):c.*608G>T http://identifiers.org/clinvar/317084 ^@ NM_022369.3(STRA6):c.*324C>T http://identifiers.org/clinvar/317085 ^@ NM_022369.3(STRA6):c.*222G>A http://identifiers.org/clinvar/317090 ^@ NM_022369.3(STRA6):c.*89T>C http://identifiers.org/clinvar/319014 ^@ NM_004960.3(FUS):c.*1286C>G http://identifiers.org/clinvar/326602 ^@ NM_014646.2(LPIN2):c.*823G>A http://identifiers.org/clinvar/319015 ^@ NM_004960.3(FUS):c.*1375C>T http://identifiers.org/clinvar/317095 ^@ NM_022369.3(STRA6):c.1957G>A (p.Val653Ile) http://identifiers.org/clinvar/317099 ^@ NM_022369.3(STRA6):c.1771G>A (p.Ala591Thr) http://identifiers.org/clinvar/319016 ^@ NM_004960.3(FUS):c.*1420C>T http://identifiers.org/clinvar/326604 ^@ NM_014646.2(LPIN2):c.*805C>G http://identifiers.org/clinvar/317106 ^@ NM_022369.3(STRA6):c.1079G>T (p.Trp360Leu) http://identifiers.org/clinvar/319022 ^@ NM_004960.3(FUS):c.*1610C>T http://identifiers.org/clinvar/319024 ^@ NM_004960.3(FUS):c.*1734C>T http://identifiers.org/clinvar/317121 ^@ NM_022369.3(STRA6):c.-113A>G http://identifiers.org/clinvar/317122 ^@ NM_022369.3(STRA6):c.-139C>A http://identifiers.org/clinvar/326608 ^@ NM_014646.2(LPIN2):c.*767A>G http://identifiers.org/clinvar/326615 ^@ NM_014646.2(LPIN2):c.*637G>A http://identifiers.org/clinvar/317124 ^@ NM_000781.2(CYP11A1):c.1164C>T (p.His388=) http://identifiers.org/clinvar/326620 ^@ NM_014646.2(LPIN2):c.*493G>A http://identifiers.org/clinvar/326621 ^@ NM_014646.2(LPIN2):c.*448C>T http://identifiers.org/clinvar/319025 ^@ NM_004960.3(FUS):c.*1803C>T http://identifiers.org/clinvar/317128 ^@ NM_000781.2(CYP11A1):c.589G>C (p.Asp197His) http://identifiers.org/clinvar/326626 ^@ NM_014646.2(LPIN2):c.*251C>T http://identifiers.org/clinvar/317129 ^@ NM_000781.2(CYP11A1):c.567G>A (p.Ala189=) http://identifiers.org/clinvar/326631 ^@ NM_014646.2(LPIN2):c.*84A>G http://identifiers.org/clinvar/319030 ^@ NM_004960.3(FUS):c.*1916A>G http://identifiers.org/clinvar/326635 ^@ NM_014646.2(LPIN2):c.1839C>T (p.Leu613=) http://identifiers.org/clinvar/317140 ^@ NM_002435.2(MPI):c.695A>G (p.Asp232Gly) http://identifiers.org/clinvar/326644 ^@ NM_014646.2(LPIN2):c.1168+11G>C http://identifiers.org/clinvar/317142 ^@ NM_002435.2(MPI):c.1175G>A (p.Arg392His) http://identifiers.org/clinvar/319031 ^@ NM_004960.3(FUS):c.*1942G>A http://identifiers.org/clinvar/319039 ^@ NM_004960.3(FUS):c.*2393delT http://identifiers.org/clinvar/326646 ^@ NM_014646.2(LPIN2):c.1132C>T (p.Pro378Ser) http://identifiers.org/clinvar/326651 ^@ NM_014646.2(LPIN2):c.-25A>G http://identifiers.org/clinvar/317150 ^@ NM_002435.2(MPI):c.*483G>C http://identifiers.org/clinvar/319043 ^@ NM_004960.3(FUS):c.*2486G>A http://identifiers.org/clinvar/326360 ^@ NM_024422.4(DSC2):c.*1704G>T http://identifiers.org/clinvar/319044 ^@ NM_004960.3(FUS):c.*2794G>C http://identifiers.org/clinvar/326361 ^@ NM_024422.4(DSC2):c.*1628T>G http://identifiers.org/clinvar/319046 ^@ NM_004960.3(FUS):c.*2955A>G http://identifiers.org/clinvar/319048 ^@ NM_004960.3(FUS):c.*3092C>T http://identifiers.org/clinvar/317155 ^@ NM_000126.3(ETFA):c.746G>A (p.Arg249His) http://identifiers.org/clinvar/326362 ^@ NM_024422.4(DSC2):c.*1604A>G http://identifiers.org/clinvar/319052 ^@ NM_004960.3(FUS):c.*3263T>G http://identifiers.org/clinvar/326364 ^@ NM_024422.4(DSC2):c.*1453C>T http://identifiers.org/clinvar/326368 ^@ NM_024422.4(DSC2):c.*1237G>A http://identifiers.org/clinvar/319058 ^@ NM_003041.3(SLC5A2):c.1130G>C (p.Gly377Ala) http://identifiers.org/clinvar/317161 ^@ NM_000126.3(ETFA):c.-71T>C http://identifiers.org/clinvar/326374 ^@ NM_024422.4(DSC2):c.*1017C>T http://identifiers.org/clinvar/326380 ^@ NM_024422.4(DSC2):c.*764delT http://identifiers.org/clinvar/317169 ^@ NM_003978.4(PSTPIP1):c.-117C>T http://identifiers.org/clinvar/319060 ^@ NM_003041.3(SLC5A2):c.1145T>C (p.Met382Thr) http://identifiers.org/clinvar/319065 ^@ NM_003041.3(SLC5A2):c.1450-14T>C http://identifiers.org/clinvar/326379 ^@ NM_024422.4(DSC2):c.*764dupT http://identifiers.org/clinvar/319076 ^@ NM_003041.3(SLC5A2):c.1877C>T (p.Pro626Leu) http://identifiers.org/clinvar/319081 ^@ NM_003041.3(SLC5A2):c.1926C>T (p.Asp642=) http://identifiers.org/clinvar/317173 ^@ NM_003978.4(PSTPIP1):c.418-4_418-3delCC http://identifiers.org/clinvar/317176 ^@ NM_003978.4(PSTPIP1):c.555C>T (p.Thr185=) http://identifiers.org/clinvar/317178 ^@ NM_003978.4(PSTPIP1):c.629G>A (p.Arg210Gln) http://identifiers.org/clinvar/319086 ^@ NM_000243.2(MEFV):c.*1056G>T http://identifiers.org/clinvar/326385 ^@ NM_024422.4(DSC2):c.*579T>C http://identifiers.org/clinvar/326391 ^@ NM_024422.4(DSC2):c.*133G>A http://identifiers.org/clinvar/317190 ^@ NM_003978.4(PSTPIP1):c.*38T>C http://identifiers.org/clinvar/319091 ^@ NM_000243.2(MEFV):c.*761delC http://identifiers.org/clinvar/326392 ^@ NM_024422.4(DSC2):c.*46A>T http://identifiers.org/clinvar/319093 ^@ NM_000243.2(MEFV):c.*724G>A http://identifiers.org/clinvar/319097 ^@ NM_000243.2(MEFV):c.*543C>T http://identifiers.org/clinvar/319099 ^@ NM_000243.2(MEFV):c.*474C>G http://identifiers.org/clinvar/319113 ^@ NM_000243.2(MEFV):c.1406T>C (p.Val469Ala) http://identifiers.org/clinvar/326394 ^@ NM_024422.4(DSC2):c.2367A>T (p.Gly789=) http://identifiers.org/clinvar/326398 ^@ NM_024422.4(DSC2):c.854T>C (p.Ile285Thr) http://identifiers.org/clinvar/319116 ^@ NM_000243.2(MEFV):c.564C>T (p.Pro188=) http://identifiers.org/clinvar/326401 ^@ NM_024422.4(DSC2):c.-132C>A http://identifiers.org/clinvar/317191 ^@ NM_003978.4(PSTPIP1):c.*51G>A http://identifiers.org/clinvar/326407 ^@ NM_024422.4(DSC2):c.-424G>T http://identifiers.org/clinvar/319117 ^@ NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) http://identifiers.org/clinvar/317193 ^@ NM_003978.4(PSTPIP1):c.*121C>T http://identifiers.org/clinvar/319120 ^@ NM_000243.2(MEFV):c.-15C>G http://identifiers.org/clinvar/319121 ^@ NM_032444.2(SLX4):c.*1150G>C http://identifiers.org/clinvar/326414 ^@ NM_177986.4(DSG4):c.-10A>G http://identifiers.org/clinvar/319123 ^@ NM_032444.2(SLX4):c.*1022A>G http://identifiers.org/clinvar/319127 ^@ NM_032444.2(SLX4):c.*871A>G http://identifiers.org/clinvar/317208 ^@ NM_000137.2(FAH):c.167C>T (p.Ser56Phe) http://identifiers.org/clinvar/317211 ^@ NM_000137.2(FAH):c.296A>G (p.Asp99Gly) http://identifiers.org/clinvar/319140 ^@ NM_032444.2(SLX4):c.*128A>G http://identifiers.org/clinvar/317215 ^@ NM_000137.2(FAH):c.855G>A (p.Pro285=) http://identifiers.org/clinvar/317221 ^@ NM_000137.2(FAH):c.*284C>G http://identifiers.org/clinvar/326415 ^@ NM_177986.4(DSG4):c.21A>G (p.Arg7=) http://identifiers.org/clinvar/326421 ^@ NM_177986.4(DSG4):c.495C>T (p.Ser165=) http://identifiers.org/clinvar/319141 ^@ NM_032444.2(SLX4):c.*113C>T http://identifiers.org/clinvar/317228 ^@ NM_000326.4(RLBP1):c.*296G>A http://identifiers.org/clinvar/326426 ^@ NM_177986.4(DSG4):c.855G>A (p.Ser285=) http://identifiers.org/clinvar/317229 ^@ NM_000326.4(RLBP1):c.*242A>C http://identifiers.org/clinvar/326427 ^@ NM_177986.4(DSG4):c.919T>G (p.Tyr307Asp) http://identifiers.org/clinvar/317232 ^@ NM_000326.4(RLBP1):c.875C>T (p.Thr292Met) http://identifiers.org/clinvar/326433 ^@ NM_177986.4(DSG4):c.1316T>C (p.Ile439Thr) http://identifiers.org/clinvar/326435 ^@ NM_177986.4(DSG4):c.1480T>C (p.Cys494Arg) http://identifiers.org/clinvar/317234 ^@ NM_000326.4(RLBP1):c.796-6C>T http://identifiers.org/clinvar/326436 ^@ NM_177986.4(DSG4):c.1487A>G (p.Asn496Ser) http://identifiers.org/clinvar/319146 ^@ NM_032444.2(SLX4):c.5027C>T (p.Thr1676Ile) http://identifiers.org/clinvar/317237 ^@ NM_000326.4(RLBP1):c.647G>A (p.Arg216Gln) http://identifiers.org/clinvar/317238 ^@ NM_000326.4(RLBP1):c.353T>G (p.Val118Gly) http://identifiers.org/clinvar/326437 ^@ NM_177986.4(DSG4):c.1604T>C (p.Ile535Thr) http://identifiers.org/clinvar/317244 ^@ NM_000326.4(RLBP1):c.107C>T (p.Pro36Leu) http://identifiers.org/clinvar/319150 ^@ NM_032444.2(SLX4):c.4656_4658delGAA (p.Lys1552del) http://identifiers.org/clinvar/326442 ^@ NM_177986.4(DSG4):c.2015A>G (p.Glu672Gly) http://identifiers.org/clinvar/317250 ^@ NM_000326.4(RLBP1):c.-233G>A http://identifiers.org/clinvar/317254 ^@ NM_001113378.1(FANCI):c.-90T>C http://identifiers.org/clinvar/319154 ^@ NM_032444.2(SLX4):c.3940C>A (p.Gln1314Lys) http://identifiers.org/clinvar/317256 ^@ NM_001113378.1(FANCI):c.-23G>A http://identifiers.org/clinvar/319156 ^@ NM_032444.2(SLX4):c.3912C>T (p.Val1304=) http://identifiers.org/clinvar/319157 ^@ NM_032444.2(SLX4):c.3841G>A (p.Gly1281Arg) http://identifiers.org/clinvar/326443 ^@ NM_177986.4(DSG4):c.2019C>T (p.Gly673=) http://identifiers.org/clinvar/326448 ^@ NM_177986.4(DSG4):c.2560C>T (p.Pro854Ser) http://identifiers.org/clinvar/326450 ^@ NM_177986.4(DSG4):c.2734G>A (p.Gly912Ser) http://identifiers.org/clinvar/317259 ^@ NM_001113378.1(FANCI):c.288+10C>T http://identifiers.org/clinvar/317262 ^@ NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) http://identifiers.org/clinvar/319159 ^@ NM_032444.2(SLX4):c.3087A>T (p.Pro1029=) http://identifiers.org/clinvar/317263 ^@ NM_001113378.1(FANCI):c.546-6C>T http://identifiers.org/clinvar/319161 ^@ NM_032444.2(SLX4):c.2991G>A (p.Pro997=) http://identifiers.org/clinvar/317264 ^@ NM_001113378.1(FANCI):c.606C>T (p.Phe202=) http://identifiers.org/clinvar/326456 ^@ NM_177986.4(DSG4):c.3020T>C (p.Met1007Thr) http://identifiers.org/clinvar/326457 ^@ NM_177986.4(DSG4):c.3023G>A (p.Ser1008Asn) http://identifiers.org/clinvar/317266 ^@ NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) http://identifiers.org/clinvar/326458 ^@ NM_177986.4(DSG4):c.3066C>A (p.Pro1022=) http://identifiers.org/clinvar/317270 ^@ NM_001113378.1(FANCI):c.1113-10G>C http://identifiers.org/clinvar/317271 ^@ NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) http://identifiers.org/clinvar/317273 ^@ NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) http://identifiers.org/clinvar/317279 ^@ NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) http://identifiers.org/clinvar/319163 ^@ NM_032444.2(SLX4):c.2882C>T (p.Pro961Leu) http://identifiers.org/clinvar/317281 ^@ NM_001113378.1(FANCI):c.1890+3A>G http://identifiers.org/clinvar/317282 ^@ NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) http://identifiers.org/clinvar/326459 ^@ NM_177986.4(DSG4):c.3069G>A (p.Met1023Ile) http://identifiers.org/clinvar/326460 ^@ NM_177986.4(DSG4):c.*31C>T http://identifiers.org/clinvar/319165 ^@ NM_032444.2(SLX4):c.2585G>A (p.Arg862Gln) http://identifiers.org/clinvar/319166 ^@ NM_032444.2(SLX4):c.2235C>T (p.Thr745=) http://identifiers.org/clinvar/326462 ^@ NM_001943.4(DSG2):c.-156G>A http://identifiers.org/clinvar/319167 ^@ NM_032444.2(SLX4):c.2125G>A (p.Val709Met) http://identifiers.org/clinvar/326463 ^@ NM_001943.4(DSG2):c.-153dupC http://identifiers.org/clinvar/317288 ^@ NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) http://identifiers.org/clinvar/326466 ^@ NM_001943.4(DSG2):c.-79C>G http://identifiers.org/clinvar/317290 ^@ NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) http://identifiers.org/clinvar/326469 ^@ NM_001943.4(DSG2):c.-4T>G http://identifiers.org/clinvar/317293 ^@ NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) http://identifiers.org/clinvar/326471 ^@ NM_001943.4(DSG2):c.45+10G>T http://identifiers.org/clinvar/319171 ^@ NM_032444.2(SLX4):c.1941C>T (p.Pro647=) http://identifiers.org/clinvar/326478 ^@ NM_001943.4(DSG2):c.1031A>T (p.Glu344Val) http://identifiers.org/clinvar/319172 ^@ NM_032444.2(SLX4):c.1911G>T (p.Ser637=) http://identifiers.org/clinvar/319182 ^@ NM_032444.2(SLX4):c.890A>G (p.Gln297Arg) http://identifiers.org/clinvar/319189 ^@ NM_032444.2(SLX4):c.-19G>A http://identifiers.org/clinvar/317294 ^@ NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) http://identifiers.org/clinvar/319191 ^@ NM_032444.2(SLX4):c.-46G>A http://identifiers.org/clinvar/319193 ^@ NM_032444.2(SLX4):c.-112C>A http://identifiers.org/clinvar/317295 ^@ NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) http://identifiers.org/clinvar/317297 ^@ NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) http://identifiers.org/clinvar/317304 ^@ NG_008218.2:g.23167G>A http://identifiers.org/clinvar/319195 ^@ NM_032444.2(SLX4):c.-211dupC http://identifiers.org/clinvar/319199 ^@ NM_032444.2(SLX4):c.-305C>T http://identifiers.org/clinvar/326479 ^@ NM_001943.4(DSG2):c.1447G>A (p.Gly483Ser) http://identifiers.org/clinvar/317305 ^@ NG_008218.2:g.23108A>G http://identifiers.org/clinvar/317307 ^@ NM_002693.2(POLG):c.*49dupG http://identifiers.org/clinvar/317316 ^@ NM_001113378.1(FANCI):c.*545_*547dupCTT http://identifiers.org/clinvar/317324 ^@ NM_002693.2(POLG):c.3273+6T>A http://identifiers.org/clinvar/319200 ^@ NM_032444.2(SLX4):c.-359C>G http://identifiers.org/clinvar/319202 ^@ NM_032444.2(SLX4):c.-395C>T http://identifiers.org/clinvar/317325 ^@ NM_002693.2(POLG):c.3197C>T (p.Thr1066Met) http://identifiers.org/clinvar/317326 ^@ NM_002693.2(POLG):c.2481-10A>C http://identifiers.org/clinvar/317331 ^@ NM_002693.2(POLG):c.1902G>T (p.Leu634=) http://identifiers.org/clinvar/326484 ^@ NM_001943.4(DSG2):c.2335-9T>C http://identifiers.org/clinvar/319204 ^@ NM_032444.2(SLX4):c.-580T>C http://identifiers.org/clinvar/317332 ^@ NM_002693.2(POLG):c.1887C>T (p.Asp629=) http://identifiers.org/clinvar/326494 ^@ NM_001943.4(DSG2):c.*159G>A http://identifiers.org/clinvar/317337 ^@ NM_002693.2(POLG):c.-80C>T http://identifiers.org/clinvar/317339 ^@ NM_002693.2(POLG):c.-200delG http://identifiers.org/clinvar/319213 ^@ NM_032575.2(GLIS2):c.651C>T (p.Asn217=) http://identifiers.org/clinvar/319215 ^@ NM_032575.2(GLIS2):c.1010C>T (p.Pro337Leu) http://identifiers.org/clinvar/326501 ^@ NM_001943.4(DSG2):c.*419G>T http://identifiers.org/clinvar/317344 ^@ NM_198525.2(KIF7):c.*191T>A http://identifiers.org/clinvar/319224 ^@ NM_032575.2(GLIS2):c.1431C>T (p.Pro477=) http://identifiers.org/clinvar/317349 ^@ NM_198525.2(KIF7):c.3957G>T (p.Gly1319=) http://identifiers.org/clinvar/317355 ^@ NM_198525.2(KIF7):c.2426G>A (p.Arg809Gln) http://identifiers.org/clinvar/319232 ^@ NM_032575.2(GLIS2):c.*173G>A http://identifiers.org/clinvar/317357 ^@ NM_198525.2(KIF7):c.2341T>C (p.Ser781Pro) http://identifiers.org/clinvar/317358 ^@ NM_198525.2(KIF7):c.2337G>A (p.Glu779=) http://identifiers.org/clinvar/319233 ^@ NM_032575.2(GLIS2):c.*232T>G http://identifiers.org/clinvar/319237 ^@ NM_032575.2(GLIS2):c.*437A>C http://identifiers.org/clinvar/317359 ^@ NM_198525.2(KIF7):c.2322C>A (p.Leu774=) http://identifiers.org/clinvar/317361 ^@ NM_198525.2(KIF7):c.2235C>T (p.Ile745=) http://identifiers.org/clinvar/326506 ^@ NM_001943.4(DSG2):c.*611_*612dupTG http://identifiers.org/clinvar/326508 ^@ NM_001943.4(DSG2):c.*677T>C http://identifiers.org/clinvar/317362 ^@ NM_198525.2(KIF7):c.2079C>T (p.Val693=) http://identifiers.org/clinvar/319239 ^@ NM_032575.2(GLIS2):c.*551C>G http://identifiers.org/clinvar/326509 ^@ NM_001943.4(DSG2):c.*696G>A http://identifiers.org/clinvar/319241 ^@ NM_032575.2(GLIS2):c.*614G>A http://identifiers.org/clinvar/319242 ^@ NM_032575.2(GLIS2):c.*632G>A http://identifiers.org/clinvar/326515 ^@ NM_001943.4(DSG2):c.*874C>T http://identifiers.org/clinvar/319243 ^@ NM_032575.2(GLIS2):c.*712C>G http://identifiers.org/clinvar/319244 ^@ NM_032575.2(GLIS2):c.*762C>T http://identifiers.org/clinvar/326516 ^@ NM_001943.4(DSG2):c.*889G>A http://identifiers.org/clinvar/319246 ^@ NM_032575.2(GLIS2):c.*856C>T http://identifiers.org/clinvar/326520 ^@ NM_001943.4(DSG2):c.*960dupA http://identifiers.org/clinvar/319250 ^@ NM_032575.2(GLIS2):c.*1046G>C http://identifiers.org/clinvar/326527 ^@ NM_001943.4(DSG2):c.*1263C>T http://identifiers.org/clinvar/319253 ^@ NM_032575.2(GLIS2):c.*1161G>A http://identifiers.org/clinvar/317365 ^@ NM_198525.2(KIF7):c.1390A>G (p.Ile464Val) http://identifiers.org/clinvar/319260 ^@ NM_032575.2(GLIS2):c.*1700G>A http://identifiers.org/clinvar/319261 ^@ NM_032575.2(GLIS2):c.*1761C>T http://identifiers.org/clinvar/317370 ^@ NM_198525.2(KIF7):c.1218C>G (p.Gly406=) http://identifiers.org/clinvar/326528 ^@ NM_001943.4(DSG2):c.*1339G>A http://identifiers.org/clinvar/326529 ^@ NM_001943.4(DSG2):c.*1399A>G http://identifiers.org/clinvar/319266 ^@ NM_018206.5(VPS35):c.*762dupT http://identifiers.org/clinvar/317375 ^@ NM_198525.2(KIF7):c.719C>T (p.Pro240Leu) http://identifiers.org/clinvar/326535 ^@ NM_001943.4(DSG2):c.*1674G>A http://identifiers.org/clinvar/326537 ^@ NM_001943.4(DSG2):c.*1786G>T http://identifiers.org/clinvar/319268 ^@ NM_018206.5(VPS35):c.*617A>G http://identifiers.org/clinvar/326540 ^@ NM_001943.4(DSG2):c.*2034C>T http://identifiers.org/clinvar/319270 ^@ NM_018206.5(VPS35):c.*380G>A http://identifiers.org/clinvar/326708 ^@ NM_173208.2(TGIF1):c.489G>A (p.Pro163=) http://identifiers.org/clinvar/319284 ^@ NM_018206.5(VPS35):c.*276_*277insCAA http://identifiers.org/clinvar/317376 ^@ NM_198525.2(KIF7):c.643A>G (p.Ser215Gly) http://identifiers.org/clinvar/317377 ^@ NM_198525.2(KIF7):c.623C>T (p.Thr208Met) http://identifiers.org/clinvar/317384 ^@ NM_198525.2(KIF7):c.-75G>A http://identifiers.org/clinvar/319285 ^@ NM_018206.5(VPS35):c.*276A>C http://identifiers.org/clinvar/319288 ^@ NM_018206.5(VPS35):c.*258delG http://identifiers.org/clinvar/317385 ^@ NM_001039958.1(MESP2):c.185G>A (p.Arg62Gln) http://identifiers.org/clinvar/319290 ^@ NM_018206.5(VPS35):c.1912A>T (p.Met638Leu) http://identifiers.org/clinvar/326713 ^@ NM_173208.2(TGIF1):c.*274delT http://identifiers.org/clinvar/326661 ^@ NM_032978.6(DTNA):c.85C>T (p.Arg29Cys) http://identifiers.org/clinvar/317386 ^@ NM_001039958.1(MESP2):c.554G>C (p.Gly185Ala) http://identifiers.org/clinvar/317388 ^@ NM_001039958.1(MESP2):c.561G>A (p.Gly187=) http://identifiers.org/clinvar/319295 ^@ NM_018206.5(VPS35):c.678C>T (p.Arg226=) http://identifiers.org/clinvar/319309 ^@ NM_014321.3(ORC6):c.*363C>T http://identifiers.org/clinvar/319311 ^@ NM_014321.3(ORC6):c.*576dupA http://identifiers.org/clinvar/317389 ^@ NM_001039958.1(MESP2):c.573G>A (p.Gly191=) http://identifiers.org/clinvar/326664 ^@ NM_032978.6(DTNA):c.784C>G (p.His262Asp) http://identifiers.org/clinvar/326666 ^@ NM_032978.6(DTNA):c.1234A>G (p.Met412Val) http://identifiers.org/clinvar/326668 ^@ NM_032978.6(DTNA):c.*25C>T http://identifiers.org/clinvar/326670 ^@ NM_032978.6(DTNA):c.*75G>T http://identifiers.org/clinvar/319316 ^@ NM_014321.3(ORC6):c.*598delGinsAGATGGATAGATAGATAGATA http://identifiers.org/clinvar/317390 ^@ NM_001039958.1(MESP2):c.585A>G (p.Gly195=) http://identifiers.org/clinvar/326672 ^@ NM_032978.6(DTNA):c.*174A>G http://identifiers.org/clinvar/317391 ^@ NM_001039958.1(MESP2):c.597A>G (p.Gly199=) http://identifiers.org/clinvar/326674 ^@ NM_032978.6(DTNA):c.*238T>G http://identifiers.org/clinvar/317392 ^@ NM_001039958.1(MESP2):c.602G>A (p.Gly201Glu) http://identifiers.org/clinvar/317394 ^@ NM_001039958.1(MESP2):c.791G>A (p.Gly264Glu) http://identifiers.org/clinvar/319337 ^@ NM_000293.2(PHKB):c.595-5T>G http://identifiers.org/clinvar/319341 ^@ NM_000293.2(PHKB):c.781T>G (p.Ser261Ala) http://identifiers.org/clinvar/317396 ^@ NM_001039958.1(MESP2):c.*101G>C http://identifiers.org/clinvar/326675 ^@ NM_032978.6(DTNA):c.*310C>T http://identifiers.org/clinvar/319343 ^@ NM_000293.2(PHKB):c.932T>C (p.Val311Ala) http://identifiers.org/clinvar/326680 ^@ NM_032978.6(DTNA):c.*577G>A http://identifiers.org/clinvar/326684 ^@ NM_032978.6(DTNA):c.*830delA http://identifiers.org/clinvar/319344 ^@ NM_000293.2(PHKB):c.1126+14T>G http://identifiers.org/clinvar/319348 ^@ NM_000293.2(PHKB):c.1746A>G (p.Leu582=) http://identifiers.org/clinvar/317399 ^@ NM_001039958.1(MESP2):c.*182C>T http://identifiers.org/clinvar/317404 ^@ NM_000057.3(BLM):c.-29C>T http://identifiers.org/clinvar/317408 ^@ NM_000057.3(BLM):c.3071A>G (p.Tyr1024Cys) http://identifiers.org/clinvar/319354 ^@ NM_000293.2(PHKB):c.2196+14A>G http://identifiers.org/clinvar/319360 ^@ NM_000293.2(PHKB):c.3121C>T (p.Arg1041Trp) http://identifiers.org/clinvar/317413 ^@ NM_000057.3(BLM):c.4251A>C (p.Ser1417=) http://identifiers.org/clinvar/317417 ^@ NM_018668.4(VPS33B):c.*155A>G http://identifiers.org/clinvar/319365 ^@ NM_000293.2(PHKB):c.3216G>A (p.Ala1072=) http://identifiers.org/clinvar/317424 ^@ NM_018668.4(VPS33B):c.941G>A (p.Arg314His) http://identifiers.org/clinvar/319366 ^@ NM_000293.2(PHKB):c.3266C>G (p.Pro1089Arg) http://identifiers.org/clinvar/326687 ^@ NM_032978.6(DTNA):c.*1044T>C http://identifiers.org/clinvar/319367 ^@ NM_000293.2(PHKB):c.*148T>A http://identifiers.org/clinvar/326689 ^@ NM_032978.6(DTNA):c.*1240C>T http://identifiers.org/clinvar/319368 ^@ NM_000293.2(PHKB):c.*279C>T http://identifiers.org/clinvar/326692 ^@ NM_032978.6(DTNA):c.*1553A>C http://identifiers.org/clinvar/317426 ^@ NM_018668.4(VPS33B):c.680A>G (p.His227Arg) http://identifiers.org/clinvar/326694 ^@ NM_032978.6(DTNA):c.*1677C>G http://identifiers.org/clinvar/317432 ^@ NM_018668.4(VPS33B):c.-137A>G http://identifiers.org/clinvar/326695 ^@ NM_032978.6(DTNA):c.*1692A>G http://identifiers.org/clinvar/317436 ^@ NM_018668.4(VPS33B):c.-325T>C http://identifiers.org/clinvar/326696 ^@ NM_032978.6(DTNA):c.*1711G>A http://identifiers.org/clinvar/317439 ^@ NM_000875.4(IGF1R):c.94+14C>T http://identifiers.org/clinvar/317442 ^@ NM_000875.4(IGF1R):c.885G>A (p.Gly295=) http://identifiers.org/clinvar/319369 ^@ NM_000293.2(PHKB):c.*323G>C http://identifiers.org/clinvar/319371 ^@ NM_000293.2(PHKB):c.*349C>T http://identifiers.org/clinvar/319372 ^@ NM_000293.2(PHKB):c.*358_*360delAAA http://identifiers.org/clinvar/317448 ^@ NM_000875.4(IGF1R):c.1499C>T (p.Thr500Met) http://identifiers.org/clinvar/317451 ^@ NM_000875.4(IGF1R):c.1868C>G (p.Ser623Cys) http://identifiers.org/clinvar/319375 ^@ NM_000293.2(PHKB):c.*612_*613delTA http://identifiers.org/clinvar/317452 ^@ NM_000875.4(IGF1R):c.2023G>A (p.Asp675Asn) http://identifiers.org/clinvar/319378 ^@ NM_000293.2(PHKB):c.*915G>A http://identifiers.org/clinvar/317457 ^@ NM_000875.4(IGF1R):c.3314C>T (p.Ala1105Val) http://identifiers.org/clinvar/317476 ^@ NM_000875.4(IGF1R):c.*251A>G http://identifiers.org/clinvar/319383 ^@ NM_000293.2(PHKB):c.*1262A>C http://identifiers.org/clinvar/317479 ^@ NM_000875.4(IGF1R):c.*362T>C http://identifiers.org/clinvar/319386 ^@ NM_000293.2(PHKB):c.*1783A>G http://identifiers.org/clinvar/319387 ^@ NM_000293.2(PHKB):c.*2086A>G http://identifiers.org/clinvar/317482 ^@ NM_000875.4(IGF1R):c.*624G>A http://identifiers.org/clinvar/317483 ^@ NM_000875.4(IGF1R):c.*626T>C http://identifiers.org/clinvar/319388 ^@ NM_000293.2(PHKB):c.*2104T>C http://identifiers.org/clinvar/317484 ^@ NM_000875.4(IGF1R):c.*640C>T http://identifiers.org/clinvar/319391 ^@ NM_024589.2(ROGDI):c.*380G>A http://identifiers.org/clinvar/317487 ^@ NM_000875.4(IGF1R):c.*741C>G http://identifiers.org/clinvar/317491 ^@ NM_000875.4(IGF1R):c.*874C>T http://identifiers.org/clinvar/319394 ^@ NM_024589.2(ROGDI):c.*292C>T http://identifiers.org/clinvar/319400 ^@ NM_024589.2(ROGDI):c.696C>T (p.Phe232=) http://identifiers.org/clinvar/326697 ^@ NM_032978.6(DTNA):c.*1720G>A http://identifiers.org/clinvar/319401 ^@ NM_024589.2(ROGDI):c.625C>G (p.Leu209Val) http://identifiers.org/clinvar/326699 ^@ NM_032978.6(DTNA):c.*1777T>C http://identifiers.org/clinvar/317493 ^@ NM_000875.4(IGF1R):c.*940C>T http://identifiers.org/clinvar/319403 ^@ NM_024589.2(ROGDI):c.532-4G>A http://identifiers.org/clinvar/317496 ^@ NM_000875.4(IGF1R):c.*1150G>A http://identifiers.org/clinvar/326717 ^@ NM_015559.2(SETBP1):c.-293T>C http://identifiers.org/clinvar/317516 ^@ NM_000875.4(IGF1R):c.*1765T>A http://identifiers.org/clinvar/319405 ^@ NM_024589.2(ROGDI):c.436A>T (p.Met146Leu) http://identifiers.org/clinvar/317515 ^@ NM_000875.4(IGF1R):c.*1767_*1770delTTTT http://identifiers.org/clinvar/317524 ^@ NM_000875.4(IGF1R):c.*1999G>A http://identifiers.org/clinvar/326720 ^@ NM_015559.2(SETBP1):c.-164C>G http://identifiers.org/clinvar/326721 ^@ NM_015559.2(SETBP1):c.-36C>T http://identifiers.org/clinvar/317527 ^@ NM_000875.4(IGF1R):c.*2296G>C http://identifiers.org/clinvar/317529 ^@ NM_000875.4(IGF1R):c.*2344G>A http://identifiers.org/clinvar/317534 ^@ NM_000875.4(IGF1R):c.*2448_*2452delCTTTT http://identifiers.org/clinvar/319407 ^@ NM_024589.2(ROGDI):c.118-13C>G http://identifiers.org/clinvar/319408 ^@ NM_024589.2(ROGDI):c.-69C>T http://identifiers.org/clinvar/317538 ^@ NM_000875.4(IGF1R):c.*2790C>T http://identifiers.org/clinvar/319409 ^@ NM_024589.2(ROGDI):c.-74A>C http://identifiers.org/clinvar/317540 ^@ NM_000875.4(IGF1R):c.*2854_*2857dupTTTT http://identifiers.org/clinvar/317542 ^@ NM_000875.4(IGF1R):c.*2952C>G http://identifiers.org/clinvar/319412 ^@ NM_024589.2(ROGDI):c.-198delG http://identifiers.org/clinvar/317543 ^@ NM_000875.4(IGF1R):c.*2998A>G http://identifiers.org/clinvar/317546 ^@ NM_000875.4(IGF1R):c.*3129G>T http://identifiers.org/clinvar/326723 ^@ NM_015559.2(SETBP1):c.85G>A (p.Ala29Thr) http://identifiers.org/clinvar/326728 ^@ NM_015559.2(SETBP1):c.816C>T (p.Asn272=) http://identifiers.org/clinvar/319414 ^@ NM_024589.2(ROGDI):c.-325G>C http://identifiers.org/clinvar/326738 ^@ NM_015559.2(SETBP1):c.1483T>A (p.Ser495Thr) http://identifiers.org/clinvar/326743 ^@ NM_015559.2(SETBP1):c.1828G>A (p.Val610Ile) http://identifiers.org/clinvar/319418 ^@ NM_022162.2(NOD2):c.-96delT http://identifiers.org/clinvar/317550 ^@ NM_000875.4(IGF1R):c.*3327G>A http://identifiers.org/clinvar/326748 ^@ NM_015559.2(SETBP1):c.2873A>G (p.Glu958Gly) http://identifiers.org/clinvar/317556 ^@ NM_000875.4(IGF1R):c.*3457C>T http://identifiers.org/clinvar/317557 ^@ NM_000875.4(IGF1R):c.*3458G>A http://identifiers.org/clinvar/319429 ^@ NM_022162.2(NOD2):c.534C>G (p.Ser178=) http://identifiers.org/clinvar/326756 ^@ NM_015559.2(SETBP1):c.3883G>A (p.Val1295Met) http://identifiers.org/clinvar/319431 ^@ NM_022162.2(NOD2):c.566C>T (p.Thr189Met) http://identifiers.org/clinvar/319434 ^@ NM_022162.2(NOD2):c.734C>T (p.Thr245Met) http://identifiers.org/clinvar/319435 ^@ NM_022162.2(NOD2):c.802C>T (p.Pro268Ser) http://identifiers.org/clinvar/317558 ^@ NM_000875.4(IGF1R):c.*3463G>A http://identifiers.org/clinvar/326757 ^@ NM_015559.2(SETBP1):c.4073T>C (p.Met1358Thr) http://identifiers.org/clinvar/319443 ^@ NM_022162.2(NOD2):c.1269G>T (p.Val423=) http://identifiers.org/clinvar/317562 ^@ NM_000875.4(IGF1R):c.*3584C>T http://identifiers.org/clinvar/317568 ^@ NM_000875.4(IGF1R):c.*3878_*3881delGTTT http://identifiers.org/clinvar/317570 ^@ NM_000875.4(IGF1R):c.*4000C>T http://identifiers.org/clinvar/317575 ^@ NM_000875.4(IGF1R):c.*4351A>G http://identifiers.org/clinvar/317582 ^@ NM_000875.4(IGF1R):c.*4494G>A http://identifiers.org/clinvar/319445 ^@ NM_022162.2(NOD2):c.1377C>T (p.Arg459=) http://identifiers.org/clinvar/319448 ^@ NM_022162.2(NOD2):c.1634C>T (p.Pro545Leu) http://identifiers.org/clinvar/319449 ^@ NM_022162.2(NOD2):c.1689C>T (p.Tyr563=) http://identifiers.org/clinvar/326767 ^@ NM_015559.2(SETBP1):c.*750G>T http://identifiers.org/clinvar/326770 ^@ NM_015559.2(SETBP1):c.*1068G>C http://identifiers.org/clinvar/319450 ^@ NM_022162.2(NOD2):c.1761T>G (p.Arg587=) http://identifiers.org/clinvar/317585 ^@ NM_000875.4(IGF1R):c.*4529T>C http://identifiers.org/clinvar/317596 ^@ NM_000875.4(IGF1R):c.*4889T>C http://identifiers.org/clinvar/326774 ^@ NM_015559.2(SETBP1):c.*1377G>A http://identifiers.org/clinvar/317604 ^@ NM_000875.4(IGF1R):c.*5436C>T http://identifiers.org/clinvar/317606 ^@ NM_000875.4(IGF1R):c.*5488A>G http://identifiers.org/clinvar/319453 ^@ NM_022162.2(NOD2):c.1839C>T (p.Phe613=) http://identifiers.org/clinvar/317615 ^@ NM_000875.4(IGF1R):c.*5718A>T http://identifiers.org/clinvar/319454 ^@ NM_022162.2(NOD2):c.1856C>T (p.Ala619Val) http://identifiers.org/clinvar/317620 ^@ NM_000875.4(IGF1R):c.*5739T>C http://identifiers.org/clinvar/317624 ^@ NM_000875.4(IGF1R):c.*5789delT http://identifiers.org/clinvar/326781 ^@ NM_015559.2(SETBP1):c.*2188G>A http://identifiers.org/clinvar/319456 ^@ NM_022162.2(NOD2):c.2003C>T (p.Pro668Leu) http://identifiers.org/clinvar/326787 ^@ NM_015559.2(SETBP1):c.*2688A>G http://identifiers.org/clinvar/326789 ^@ NM_015559.2(SETBP1):c.*2884C>T http://identifiers.org/clinvar/317651 ^@ NM_000875.4(IGF1R):c.*6771T>A http://identifiers.org/clinvar/326792 ^@ NM_015559.2(SETBP1):c.*2966delG http://identifiers.org/clinvar/317654 ^@ NM_000875.4(IGF1R):c.*6793dupA http://identifiers.org/clinvar/326800 ^@ NM_015559.2(SETBP1):c.*3313A>C http://identifiers.org/clinvar/317658 ^@ NM_000875.4(IGF1R):c.*6897A>C http://identifiers.org/clinvar/315127 ^@ NM_139057.3(ADAMTS17):c.*2878C>T http://identifiers.org/clinvar/326803 ^@ NM_015559.2(SETBP1):c.*3459G>A http://identifiers.org/clinvar/326806 ^@ NM_015559.2(SETBP1):c.*3676C>T http://identifiers.org/clinvar/319457 ^@ NM_022162.2(NOD2):c.2046G>T (p.Leu682Phe) http://identifiers.org/clinvar/319475 ^@ NM_022162.2(NOD2):c.3094G>A (p.Gly1032Ser) http://identifiers.org/clinvar/315135 ^@ NM_139057.3(ADAMTS17):c.*2578G>A http://identifiers.org/clinvar/319480 ^@ NM_022162.2(NOD2):c.*382C>T http://identifiers.org/clinvar/319491 ^@ NM_022162.2(NOD2):c.*1023C>T http://identifiers.org/clinvar/315136 ^@ NM_139057.3(ADAMTS17):c.*2560T>C http://identifiers.org/clinvar/326817 ^@ NM_015559.2(SETBP1):c.*4266dupA http://identifiers.org/clinvar/319493 ^@ NM_022162.2(NOD2):c.*1201T>A http://identifiers.org/clinvar/319497 ^@ NM_015247.2(CYLD):c.59T>G (p.Ile20Ser) http://identifiers.org/clinvar/315143 ^@ NM_139057.3(ADAMTS17):c.*2429G>A http://identifiers.org/clinvar/326833 ^@ NM_144612.6(LOXHD1):c.5585C>T (p.Ser1862Leu) http://identifiers.org/clinvar/326834 ^@ NM_144612.6(LOXHD1):c.5312C>G (p.Pro1771Arg) http://identifiers.org/clinvar/319506 ^@ NM_015247.2(CYLD):c.2145T>C (p.Tyr715=) http://identifiers.org/clinvar/315151 ^@ NM_139057.3(ADAMTS17):c.*2316C>G http://identifiers.org/clinvar/326842 ^@ NM_144612.6(LOXHD1):c.4239C>T (p.Cys1413=) http://identifiers.org/clinvar/315156 ^@ NM_139057.3(ADAMTS17):c.*2227G>A http://identifiers.org/clinvar/326843 ^@ NM_144612.6(LOXHD1):c.4180G>A (p.Val1394Met) http://identifiers.org/clinvar/315160 ^@ NM_139057.3(ADAMTS17):c.*2145_*2147delGTT http://identifiers.org/clinvar/315164 ^@ NM_139057.3(ADAMTS17):c.*2012C>T http://identifiers.org/clinvar/319513 ^@ NM_015247.2(CYLD):c.*468A>C http://identifiers.org/clinvar/326848 ^@ NM_144612.6(LOXHD1):c.3597C>G (p.Leu1199=) http://identifiers.org/clinvar/319516 ^@ NM_015247.2(CYLD):c.*831C>T http://identifiers.org/clinvar/315165 ^@ NM_139057.3(ADAMTS17):c.*2007G>A http://identifiers.org/clinvar/319522 ^@ NM_015247.2(CYLD):c.*1341T>G http://identifiers.org/clinvar/319524 ^@ NM_015247.2(CYLD):c.*1587dupA http://identifiers.org/clinvar/326850 ^@ NM_144612.6(LOXHD1):c.3195C>T (p.Ser1065=) http://identifiers.org/clinvar/326854 ^@ NM_144612.6(LOXHD1):c.2851G>A (p.Glu951Lys) http://identifiers.org/clinvar/326856 ^@ NM_144612.6(LOXHD1):c.2770C>T (p.Arg924Trp) http://identifiers.org/clinvar/326857 ^@ NM_144612.6(LOXHD1):c.2648C>T (p.Thr883Met) http://identifiers.org/clinvar/319525 ^@ NM_015247.2(CYLD):c.*1590T>C http://identifiers.org/clinvar/315166 ^@ NM_139057.3(ADAMTS17):c.*1992G>A http://identifiers.org/clinvar/326859 ^@ NM_144612.6(LOXHD1):c.2516A>T (p.Tyr839Phe) http://identifiers.org/clinvar/319534 ^@ NM_015247.2(CYLD):c.*2150A>G http://identifiers.org/clinvar/319542 ^@ NM_015247.2(CYLD):c.*2646G>A http://identifiers.org/clinvar/326861 ^@ NM_144612.6(LOXHD1):c.2438-9C>A http://identifiers.org/clinvar/315167 ^@ NM_139057.3(ADAMTS17):c.*1946G>T http://identifiers.org/clinvar/326867 ^@ NM_144612.6(LOXHD1):c.1828G>A (p.Glu610Lys) http://identifiers.org/clinvar/315168 ^@ NM_139057.3(ADAMTS17):c.*1944G>A http://identifiers.org/clinvar/315173 ^@ NM_139057.3(ADAMTS17):c.*1773G>T http://identifiers.org/clinvar/326868 ^@ NM_144612.6(LOXHD1):c.1717G>A (p.Val573Ile) http://identifiers.org/clinvar/319546 ^@ NM_015247.2(CYLD):c.*3000C>G http://identifiers.org/clinvar/326869 ^@ NM_144612.6(LOXHD1):c.1716C>T (p.Asn572=) http://identifiers.org/clinvar/319547 ^@ NM_015247.2(CYLD):c.*3070A>G http://identifiers.org/clinvar/326872 ^@ NM_144612.6(LOXHD1):c.1459T>C (p.Tyr487His) http://identifiers.org/clinvar/315174 ^@ NM_139057.3(ADAMTS17):c.*1763C>T http://identifiers.org/clinvar/326873 ^@ NM_144612.6(LOXHD1):c.1303G>A (p.Asp435Asn) http://identifiers.org/clinvar/315179 ^@ NM_139057.3(ADAMTS17):c.*1706G>A http://identifiers.org/clinvar/319550 ^@ NM_015247.2(CYLD):c.*3229C>T http://identifiers.org/clinvar/315187 ^@ NM_139057.3(ADAMTS17):c.*1419G>A http://identifiers.org/clinvar/319552 ^@ NM_015247.2(CYLD):c.*3384G>A http://identifiers.org/clinvar/326874 ^@ NM_144612.6(LOXHD1):c.1191G>T (p.Trp397Cys) http://identifiers.org/clinvar/319554 ^@ NM_015247.2(CYLD):c.*3614C>A http://identifiers.org/clinvar/326876 ^@ NM_144612.6(LOXHD1):c.821C>T (p.Ala274Val) http://identifiers.org/clinvar/319558 ^@ NM_015247.2(CYLD):c.*3736G>A http://identifiers.org/clinvar/326878 ^@ NM_144612.6(LOXHD1):c.580A>T (p.Ile194Phe) http://identifiers.org/clinvar/315193 ^@ NM_139057.3(ADAMTS17):c.*1231_*1234delAAGG http://identifiers.org/clinvar/326879 ^@ NM_144612.6(LOXHD1):c.572A>G (p.Asp191Gly) http://identifiers.org/clinvar/315196 ^@ NM_139057.3(ADAMTS17):c.*1083A>G http://identifiers.org/clinvar/319560 ^@ NM_015247.2(CYLD):c.*4388C>T http://identifiers.org/clinvar/315200 ^@ NM_139057.3(ADAMTS17):c.*1024T>G http://identifiers.org/clinvar/315203 ^@ NM_139057.3(ADAMTS17):c.*1016C>T http://identifiers.org/clinvar/319561 ^@ NM_015247.2(CYLD):c.*4470C>A http://identifiers.org/clinvar/315207 ^@ NM_139057.3(ADAMTS17):c.*900T>C http://identifiers.org/clinvar/319571 ^@ NM_015247.2(CYLD):c.*4947G>A http://identifiers.org/clinvar/319572 ^@ NM_015247.2(CYLD):c.*5086A>G http://identifiers.org/clinvar/315211 ^@ NM_139057.3(ADAMTS17):c.*856C>T http://identifiers.org/clinvar/315216 ^@ NM_139057.3(ADAMTS17):c.*700G>A http://identifiers.org/clinvar/315222 ^@ NM_139057.3(ADAMTS17):c.*544G>A http://identifiers.org/clinvar/319573 ^@ NM_015247.2(CYLD):c.*5272C>T http://identifiers.org/clinvar/319575 ^@ NM_002968.2(SALL1):c.*1112dupT http://identifiers.org/clinvar/326881 ^@ NM_144612.6(LOXHD1):c.329T>C (p.Ile110Thr) http://identifiers.org/clinvar/319577 ^@ NM_002968.2(SALL1):c.*1016T>C http://identifiers.org/clinvar/319578 ^@ NM_002968.2(SALL1):c.*997C>A http://identifiers.org/clinvar/315226 ^@ NM_139057.3(ADAMTS17):c.*486G>A http://identifiers.org/clinvar/315232 ^@ NM_139057.3(ADAMTS17):c.*421G>C http://identifiers.org/clinvar/315233 ^@ NM_139057.3(ADAMTS17):c.*420G>A http://identifiers.org/clinvar/315237 ^@ NM_139057.3(ADAMTS17):c.*293G>A http://identifiers.org/clinvar/315238 ^@ NM_139057.3(ADAMTS17):c.*261G>A http://identifiers.org/clinvar/326886 ^@ NM_017653.3(DYM):c.*22G>A http://identifiers.org/clinvar/326893 ^@ NM_017653.3(DYM):c.1749G>C (p.Val583=) http://identifiers.org/clinvar/319579 ^@ NM_002968.2(SALL1):c.*926_*928delCTT http://identifiers.org/clinvar/315239 ^@ NM_139057.3(ADAMTS17):c.*190G>A http://identifiers.org/clinvar/319582 ^@ NM_002968.2(SALL1):c.*865A>C http://identifiers.org/clinvar/326896 ^@ NM_017653.3(DYM):c.1116G>A (p.Met372Ile) http://identifiers.org/clinvar/319584 ^@ NM_002968.2(SALL1):c.*646C>T http://identifiers.org/clinvar/326899 ^@ NM_017653.3(DYM):c.961C>T (p.Pro321Ser) http://identifiers.org/clinvar/315244 ^@ NM_139057.3(ADAMTS17):c.*111C>T http://identifiers.org/clinvar/319585 ^@ NM_002968.2(SALL1):c.*592G>A http://identifiers.org/clinvar/319589 ^@ NM_002968.2(SALL1):c.*550G>T http://identifiers.org/clinvar/315248 ^@ NM_139057.3(ADAMTS17):c.3281A>G (p.Asn1094Ser) http://identifiers.org/clinvar/315250 ^@ NM_139057.3(ADAMTS17):c.3165G>C (p.Thr1055=) http://identifiers.org/clinvar/326908 ^@ NM_017653.3(DYM):c.42T>G (p.Asn14Lys) http://identifiers.org/clinvar/326914 ^@ NM_017653.3(DYM):c.-222G>A http://identifiers.org/clinvar/326922 ^@ NM_001080467.2(MYO5B):c.*3317C>T http://identifiers.org/clinvar/326923 ^@ NM_001080467.2(MYO5B):c.*3315T>C http://identifiers.org/clinvar/315257 ^@ NM_139057.3(ADAMTS17):c.3028G>A (p.Glu1010Lys) http://identifiers.org/clinvar/319603 ^@ NM_002968.2(SALL1):c.3277G>A (p.Val1093Met) http://identifiers.org/clinvar/319608 ^@ NM_002968.2(SALL1):c.1731C>G (p.Pro577=) http://identifiers.org/clinvar/315259 ^@ NM_139057.3(ADAMTS17):c.2883G>A (p.Pro961=) http://identifiers.org/clinvar/326930 ^@ NM_001080467.2(MYO5B):c.*3102C>A http://identifiers.org/clinvar/326931 ^@ NM_001080467.2(MYO5B):c.*3073T>G http://identifiers.org/clinvar/319611 ^@ NM_002968.2(SALL1):c.1006G>A (p.Gly336Ser) http://identifiers.org/clinvar/319614 ^@ NM_002968.2(SALL1):c.537C>T (p.Leu179=) http://identifiers.org/clinvar/326932 ^@ NM_001080467.2(MYO5B):c.*3065T>C http://identifiers.org/clinvar/326943 ^@ NM_001080467.2(MYO5B):c.*2640G>A http://identifiers.org/clinvar/319618 ^@ NM_002968.2(SALL1):c.263G>A (p.Ser88Asn) http://identifiers.org/clinvar/326947 ^@ NM_001080467.2(MYO5B):c.*2259G>A http://identifiers.org/clinvar/315263 ^@ NM_139057.3(ADAMTS17):c.2592-9G>A http://identifiers.org/clinvar/326948 ^@ NM_001080467.2(MYO5B):c.*2240A>C http://identifiers.org/clinvar/317669 ^@ NM_000833.4(GRIN2A):c.83A>C (p.Glu28Ala) http://identifiers.org/clinvar/326949 ^@ NM_001080467.2(MYO5B):c.*2219G>C http://identifiers.org/clinvar/317670 ^@ NM_000833.4(GRIN2A):c.-34C>G http://identifiers.org/clinvar/326955 ^@ NM_001080467.2(MYO5B):c.*2141_*2145delTCTTC http://identifiers.org/clinvar/317681 ^@ NM_000246.3(CIITA):c.491C>G (p.Pro164Arg) http://identifiers.org/clinvar/317693 ^@ NM_000246.3(CIITA):c.1493T>C (p.Leu498Pro) http://identifiers.org/clinvar/319622 ^@ NM_002968.2(SALL1):c.43G>A (p.Asp15Asn) http://identifiers.org/clinvar/319626 ^@ NM_015272.4(RPGRIP1L):c.*1584G>T http://identifiers.org/clinvar/319629 ^@ NM_015272.4(RPGRIP1L):c.*1207G>A http://identifiers.org/clinvar/319634 ^@ NM_015272.4(RPGRIP1L):c.*737T>G http://identifiers.org/clinvar/317697 ^@ NM_000246.3(CIITA):c.1635C>G (p.Leu545=) http://identifiers.org/clinvar/326959 ^@ NM_001080467.2(MYO5B):c.*1965C>T http://identifiers.org/clinvar/317699 ^@ NM_000246.3(CIITA):c.1926C>T (p.Val642=) http://identifiers.org/clinvar/319637 ^@ NM_015272.4(RPGRIP1L):c.*532T>C http://identifiers.org/clinvar/326971 ^@ NM_001080467.2(MYO5B):c.*1272A>C http://identifiers.org/clinvar/317702 ^@ NM_000246.3(CIITA):c.2072C>A (p.Ala691Asp) http://identifiers.org/clinvar/326976 ^@ NM_001080467.2(MYO5B):c.*1039T>A http://identifiers.org/clinvar/317705 ^@ NM_000246.3(CIITA):c.2148C>T (p.Phe716=) http://identifiers.org/clinvar/317711 ^@ NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) http://identifiers.org/clinvar/326978 ^@ NM_001080467.2(MYO5B):c.*965A>T http://identifiers.org/clinvar/317714 ^@ NM_000246.3(CIITA):c.2565G>A (p.Ala855=) http://identifiers.org/clinvar/319640 ^@ NM_015272.4(RPGRIP1L):c.*332T>G http://identifiers.org/clinvar/319642 ^@ NM_015272.4(RPGRIP1L):c.*269C>T http://identifiers.org/clinvar/326986 ^@ NM_001080467.2(MYO5B):c.*400G>A http://identifiers.org/clinvar/319650 ^@ NM_015272.4(RPGRIP1L):c.3362C>T (p.Pro1121Leu) http://identifiers.org/clinvar/319653 ^@ NM_015272.4(RPGRIP1L):c.2959-15T>C http://identifiers.org/clinvar/326989 ^@ NM_001080467.2(MYO5B):c.*309G>A http://identifiers.org/clinvar/317722 ^@ NM_000246.3(CIITA):c.3063-12G>T http://identifiers.org/clinvar/326993 ^@ NM_001080467.2(MYO5B):c.*175dupT http://identifiers.org/clinvar/319659 ^@ NM_015272.4(RPGRIP1L):c.2327C>T (p.Thr776Ile) http://identifiers.org/clinvar/327000 ^@ NM_001080467.2(MYO5B):c.5313+6G>A http://identifiers.org/clinvar/319660 ^@ NM_015272.4(RPGRIP1L):c.2201G>A (p.Arg734Gln) http://identifiers.org/clinvar/327002 ^@ NM_001080467.2(MYO5B):c.5048A>G (p.Lys1683Arg) http://identifiers.org/clinvar/317724 ^@ NM_000246.3(CIITA):c.3149+11C>T http://identifiers.org/clinvar/327006 ^@ NM_001080467.2(MYO5B):c.4703G>A (p.Gly1568Asp) http://identifiers.org/clinvar/317727 ^@ NM_000246.3(CIITA):c.*23-7G>C http://identifiers.org/clinvar/327018 ^@ NM_001080467.2(MYO5B):c.3945-9T>A http://identifiers.org/clinvar/319661 ^@ NM_015272.4(RPGRIP1L):c.1960G>A (p.Glu654Lys) http://identifiers.org/clinvar/327022 ^@ NM_001080467.2(MYO5B):c.3889C>T (p.His1297Tyr) http://identifiers.org/clinvar/319667 ^@ NM_015272.4(RPGRIP1L):c.293G>T (p.Gly98Val) http://identifiers.org/clinvar/327023 ^@ NM_001080467.2(MYO5B):c.3828C>T (p.Leu1276=) http://identifiers.org/clinvar/317732 ^@ NM_000246.3(CIITA):c.*203C>T http://identifiers.org/clinvar/317747 ^@ NM_000246.3(CIITA):c.*910T>C http://identifiers.org/clinvar/319687 ^@ NM_001080432.2(FTO):c.1119+25dupT http://identifiers.org/clinvar/319688 ^@ NM_001080432.2(FTO):c.1179T>G (p.Thr393=) http://identifiers.org/clinvar/327026 ^@ NM_001080467.2(MYO5B):c.3488T>G (p.Leu1163Arg) http://identifiers.org/clinvar/327036 ^@ NM_001080467.2(MYO5B):c.2812-3C>A http://identifiers.org/clinvar/327039 ^@ NM_001080467.2(MYO5B):c.2647C>T (p.Leu883=) http://identifiers.org/clinvar/317748 ^@ NM_000246.3(CIITA):c.*911G>A http://identifiers.org/clinvar/317749 ^@ NM_000246.3(CIITA):c.*927G>A http://identifiers.org/clinvar/327040 ^@ NM_001080467.2(MYO5B):c.2644C>T (p.Arg882Trp) http://identifiers.org/clinvar/317752 ^@ NM_004862.3(LITAF):c.*1853A>G http://identifiers.org/clinvar/317759 ^@ NM_004862.3(LITAF):c.*949A>G http://identifiers.org/clinvar/319690 ^@ NM_001080432.2(FTO):c.1306A>C (p.Thr436Pro) http://identifiers.org/clinvar/319692 ^@ NM_001080432.2(FTO):c.*88C>A http://identifiers.org/clinvar/319693 ^@ NM_001080432.2(FTO):c.*116C>T http://identifiers.org/clinvar/327053 ^@ NM_001080467.2(MYO5B):c.2049G>A (p.Val683=) http://identifiers.org/clinvar/327064 ^@ NM_001080467.2(MYO5B):c.1323-10C>T http://identifiers.org/clinvar/327069 ^@ NM_001080467.2(MYO5B):c.1206C>T (p.Asn402=) http://identifiers.org/clinvar/319694 ^@ NM_001080432.2(FTO):c.*298C>T http://identifiers.org/clinvar/327072 ^@ NM_001080467.2(MYO5B):c.996C>A (p.Ile332=) http://identifiers.org/clinvar/319701 ^@ NM_001080432.2(FTO):c.*721T>G http://identifiers.org/clinvar/327073 ^@ NM_001080467.2(MYO5B):c.946G>A (p.Gly316Arg) http://identifiers.org/clinvar/319703 ^@ NM_001080432.2(FTO):c.*1057G>C http://identifiers.org/clinvar/319713 ^@ NM_001080432.2(FTO):c.*1550C>A http://identifiers.org/clinvar/319723 ^@ NM_001080432.2(FTO):c.*1911delT http://identifiers.org/clinvar/319725 ^@ NM_001080432.2(FTO):c.*2039C>T http://identifiers.org/clinvar/327075 ^@ NM_001080467.2(MYO5B):c.921G>T (p.Lys307Asn) http://identifiers.org/clinvar/317771 ^@ NM_004862.3(LITAF):c.*453C>A http://identifiers.org/clinvar/317778 ^@ NM_004862.3(LITAF):c.*68G>A http://identifiers.org/clinvar/319726 ^@ NM_001080432.2(FTO):c.*2080A>T http://identifiers.org/clinvar/327076 ^@ NM_001080467.2(MYO5B):c.897G>T (p.Val299=) http://identifiers.org/clinvar/327078 ^@ NM_001080467.2(MYO5B):c.839-11G>A http://identifiers.org/clinvar/317781 ^@ NM_004862.3(LITAF):c.377+13C>G http://identifiers.org/clinvar/319728 ^@ NM_001080432.2(FTO):c.*2180C>T http://identifiers.org/clinvar/327082 ^@ NM_001080467.2(MYO5B):c.558G>A (p.Ser186=) http://identifiers.org/clinvar/319732 ^@ NM_001080432.2(FTO):c.*2301G>A http://identifiers.org/clinvar/319738 ^@ NM_001080432.2(FTO):c.*2442A>T http://identifiers.org/clinvar/327084 ^@ NM_001080467.2(MYO5B):c.471G>A (p.Gln157=) http://identifiers.org/clinvar/319739 ^@ NM_001080432.2(FTO):c.*2551G>A http://identifiers.org/clinvar/317784 ^@ NM_004862.3(LITAF):c.159G>A (p.Gly53=) http://identifiers.org/clinvar/319750 ^@ NM_004530.5(MMP2):c.678G>C (p.Gly226=) http://identifiers.org/clinvar/317789 ^@ NM_004862.3(LITAF):c.44C>T (p.Ser15Leu) http://identifiers.org/clinvar/319755 ^@ NM_004530.5(MMP2):c.1144G>A (p.Asp382Asn) http://identifiers.org/clinvar/319757 ^@ NM_004530.5(MMP2):c.1233G>A (p.Leu411=) http://identifiers.org/clinvar/327085 ^@ NM_001080467.2(MYO5B):c.456-10T>C http://identifiers.org/clinvar/317802 ^@ NM_032520.4(GNPTG):c.-40C>A http://identifiers.org/clinvar/317883 ^@ NM_032520.4(GNPTG):c.412-14C>T http://identifiers.org/clinvar/319758 ^@ NM_004530.5(MMP2):c.1336+11G>A http://identifiers.org/clinvar/319763 ^@ NM_004530.5(MMP2):c.1572C>T (p.Tyr524=) http://identifiers.org/clinvar/319764 ^@ NM_004530.5(MMP2):c.1758C>A (p.Asp586Glu) http://identifiers.org/clinvar/319770 ^@ NM_004530.5(MMP2):c.*51G>A http://identifiers.org/clinvar/319771 ^@ NM_004530.5(MMP2):c.*132T>A http://identifiers.org/clinvar/319774 ^@ NM_004530.5(MMP2):c.*212C>T http://identifiers.org/clinvar/319782 ^@ NM_004530.5(MMP2):c.*669C>G http://identifiers.org/clinvar/327087 ^@ NM_001080467.2(MYO5B):c.376A>G (p.Thr126Ala) http://identifiers.org/clinvar/319783 ^@ NM_004530.5(MMP2):c.*853A>G http://identifiers.org/clinvar/319784 ^@ NM_004530.5(MMP2):c.*872C>T http://identifiers.org/clinvar/317888 ^@ NM_032520.4(GNPTG):c.702T>C (p.Pro234=) http://identifiers.org/clinvar/317796 ^@ NM_005236.2(ERCC4):c.41C>G (p.Pro14Arg) http://identifiers.org/clinvar/317812 ^@ NM_005236.2(ERCC4):c.1432G>A (p.Ala478Thr) http://identifiers.org/clinvar/319790 ^@ NM_001043.3(SLC6A2):c.-36C>G http://identifiers.org/clinvar/317816 ^@ NM_005236.2(ERCC4):c.1728A>T (p.Arg576Ser) http://identifiers.org/clinvar/327089 ^@ NM_001080467.2(MYO5B):c.176T>C (p.Leu59Pro) http://identifiers.org/clinvar/327090 ^@ NM_001080467.2(MYO5B):c.167G>T (p.Arg56Leu) http://identifiers.org/clinvar/319796 ^@ NM_001043.3(SLC6A2):c.646C>T (p.Arg216Cys) http://identifiers.org/clinvar/319803 ^@ NM_001043.3(SLC6A2):c.1287G>A (p.Thr429=) http://identifiers.org/clinvar/327096 ^@ NM_001080467.2(MYO5B):c.-176G>T http://identifiers.org/clinvar/327097 ^@ NM_001080467.2(MYO5B):c.-177C>A http://identifiers.org/clinvar/319804 ^@ NM_001043.3(SLC6A2):c.1344C>T (p.Gly448=) http://identifiers.org/clinvar/319813 ^@ NM_001043.3(SLC6A2):c.*87G>A http://identifiers.org/clinvar/317817 ^@ NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) http://identifiers.org/clinvar/319815 ^@ NM_001043.3(SLC6A2):c.*126C>A http://identifiers.org/clinvar/317821 ^@ NM_005236.2(ERCC4):c.2292C>T (p.Ser764=) http://identifiers.org/clinvar/319823 ^@ NM_001043.3(SLC6A2):c.*401_*402insCA http://identifiers.org/clinvar/319822 ^@ NM_001043.3(SLC6A2):c.*414_*415dupAA http://identifiers.org/clinvar/317823 ^@ NM_005236.2(ERCC4):c.2500G>T (p.Asp834Tyr) http://identifiers.org/clinvar/319829 ^@ NM_001043.3(SLC6A2):c.*664C>T http://identifiers.org/clinvar/319831 ^@ NM_001043.3(SLC6A2):c.*835G>A http://identifiers.org/clinvar/317833 ^@ NM_005236.2(ERCC4):c.*674G>C http://identifiers.org/clinvar/317836 ^@ NM_005236.2(ERCC4):c.*745A>G http://identifiers.org/clinvar/317842 ^@ NM_005236.2(ERCC4):c.*1251T>C http://identifiers.org/clinvar/319842 ^@ NM_001043.3(SLC6A2):c.*1398G>A http://identifiers.org/clinvar/317843 ^@ NM_005236.2(ERCC4):c.*1421G>T http://identifiers.org/clinvar/319844 ^@ NM_001043.3(SLC6A2):c.*1425G>A http://identifiers.org/clinvar/327098 ^@ NM_001080467.2(MYO5B):c.-242C>G http://identifiers.org/clinvar/327106 ^@ NM_005359.5(SMAD4):c.-233G>C http://identifiers.org/clinvar/319845 ^@ NM_001043.3(SLC6A2):c.*1433C>T http://identifiers.org/clinvar/327116 ^@ NM_005359.5(SMAD4):c.*241T>C http://identifiers.org/clinvar/327117 ^@ NM_005359.5(SMAD4):c.*334C>T http://identifiers.org/clinvar/319851 ^@ NM_031885.3(BBS2):c.1902G>T (p.Met634Ile) http://identifiers.org/clinvar/327119 ^@ NM_005359.5(SMAD4):c.*685A>C http://identifiers.org/clinvar/327120 ^@ NM_005359.5(SMAD4):c.*837A>G http://identifiers.org/clinvar/319852 ^@ NM_031885.3(BBS2):c.1894C>T (p.Arg632Cys) http://identifiers.org/clinvar/319853 ^@ NM_031885.3(BBS2):c.1797+12C>T http://identifiers.org/clinvar/317848 ^@ NM_005236.2(ERCC4):c.*1858C>T http://identifiers.org/clinvar/317849 ^@ NM_005236.2(ERCC4):c.*1880C>T http://identifiers.org/clinvar/327124 ^@ NM_005359.5(SMAD4):c.*1177G>A http://identifiers.org/clinvar/327128 ^@ NM_005359.5(SMAD4):c.*1457C>T http://identifiers.org/clinvar/317852 ^@ NM_005236.2(ERCC4):c.*2174A>G http://identifiers.org/clinvar/319858 ^@ NM_031885.3(BBS2):c.1134A>G (p.Pro378=) http://identifiers.org/clinvar/327129 ^@ NM_005359.5(SMAD4):c.*1512dupT http://identifiers.org/clinvar/319859 ^@ NM_031885.3(BBS2):c.1118A>G (p.His373Arg) http://identifiers.org/clinvar/317854 ^@ NM_005236.2(ERCC4):c.*2240A>G http://identifiers.org/clinvar/317855 ^@ NM_005236.2(ERCC4):c.*2255G>A http://identifiers.org/clinvar/319861 ^@ NM_031885.3(BBS2):c.865A>G (p.Ile289Val) http://identifiers.org/clinvar/319863 ^@ NM_031885.3(BBS2):c.766G>A (p.Gly256Arg) http://identifiers.org/clinvar/319864 ^@ NM_031885.3(BBS2):c.744T>C (p.His248=) http://identifiers.org/clinvar/317856 ^@ NM_005236.2(ERCC4):c.*2423A>G http://identifiers.org/clinvar/317860 ^@ NM_005236.2(ERCC4):c.*2759C>T http://identifiers.org/clinvar/327132 ^@ NM_005359.5(SMAD4):c.*1812T>G http://identifiers.org/clinvar/319869 ^@ NM_031885.3(BBS2):c.111G>A (p.Thr37=) http://identifiers.org/clinvar/317861 ^@ NM_005236.2(ERCC4):c.*2872A>C http://identifiers.org/clinvar/327137 ^@ NM_005359.5(SMAD4):c.*2353C>T http://identifiers.org/clinvar/317862 ^@ NM_005236.2(ERCC4):c.*2879A>C http://identifiers.org/clinvar/319881 ^@ NM_031885.3(BBS2):c.-178C>T http://identifiers.org/clinvar/327138 ^@ NM_005359.5(SMAD4):c.*2354G>A http://identifiers.org/clinvar/327147 ^@ NM_005359.5(SMAD4):c.*2793T>G http://identifiers.org/clinvar/319885 ^@ NM_031885.3(BBS2):c.-225C>T http://identifiers.org/clinvar/319892 ^@ NM_000339.2(SLC12A3):c.422G>C (p.Gly141Ala) http://identifiers.org/clinvar/317864 ^@ NM_005236.2(ERCC4):c.*3044A>C http://identifiers.org/clinvar/317867 ^@ NM_005236.2(ERCC4):c.*3130T>C http://identifiers.org/clinvar/327155 ^@ NM_005359.5(SMAD4):c.*3286A>T http://identifiers.org/clinvar/327159 ^@ NM_005359.5(SMAD4):c.*3763C>T http://identifiers.org/clinvar/319896 ^@ NM_000339.2(SLC12A3):c.1176C>A (p.Thr392=) http://identifiers.org/clinvar/317868 ^@ NM_005236.2(ERCC4):c.*3195G>A http://identifiers.org/clinvar/327160 ^@ NM_005359.5(SMAD4):c.*3843G>A http://identifiers.org/clinvar/319901 ^@ NM_000339.2(SLC12A3):c.1314C>T (p.Tyr438=) http://identifiers.org/clinvar/327161 ^@ NM_005359.5(SMAD4):c.*3878dupT http://identifiers.org/clinvar/327164 ^@ NM_005359.5(SMAD4):c.*4587_*4590delGAGA http://identifiers.org/clinvar/319902 ^@ NM_000339.2(SLC12A3):c.1386C>T (p.Phe462=) http://identifiers.org/clinvar/327165 ^@ NM_005359.5(SMAD4):c.*4643T>C http://identifiers.org/clinvar/317872 ^@ NM_005236.2(ERCC4):c.*3493T>C http://identifiers.org/clinvar/317875 ^@ NM_005236.2(ERCC4):c.*3753C>G http://identifiers.org/clinvar/327176 ^@ NM_005359.5(SMAD4):c.*5170C>T http://identifiers.org/clinvar/317877 ^@ NM_005236.2(ERCC4):c.*3818G>A http://identifiers.org/clinvar/327182 ^@ NM_005359.5(SMAD4):c.*5535_*5545delACGCGCGCGCGinsGCGCACA http://identifiers.org/clinvar/319917 ^@ NM_000339.2(SLC12A3):c.2782C>T (p.Arg928Cys) http://identifiers.org/clinvar/327188 ^@ NM_005359.5(SMAD4):c.*5545_*5546delGC http://identifiers.org/clinvar/327198 ^@ NM_005359.5(SMAD4):c.*5572_*5577delCACACA http://identifiers.org/clinvar/317879 ^@ NM_005236.2(ERCC4):c.*3921A>C http://identifiers.org/clinvar/319918 ^@ NM_000339.2(SLC12A3):c.2820C>T (p.Asn940=) http://identifiers.org/clinvar/327185 ^@ NM_005359.5(SMAD4):c.*5576_*5577delCA http://identifiers.org/clinvar/327202 ^@ NM_005359.5(SMAD4):c.*5627G>A http://identifiers.org/clinvar/317904 ^@ NM_001287.5(CLCN7):c.*1626G>C http://identifiers.org/clinvar/319923 ^@ NM_000339.2(SLC12A3):c.*102T>C http://identifiers.org/clinvar/319925 ^@ NM_000339.2(SLC12A3):c.*209T>A http://identifiers.org/clinvar/317906 ^@ NM_001287.5(CLCN7):c.*1589G>C http://identifiers.org/clinvar/317908 ^@ NM_001287.5(CLCN7):c.*1491C>T http://identifiers.org/clinvar/319928 ^@ NM_000339.2(SLC12A3):c.*285T>C http://identifiers.org/clinvar/327206 ^@ NM_005359.5(SMAD4):c.*5791C>T http://identifiers.org/clinvar/327207 ^@ NM_005359.5(SMAD4):c.*5801T>C http://identifiers.org/clinvar/317909 ^@ NM_001287.5(CLCN7):c.*1452G>A http://identifiers.org/clinvar/327210 ^@ NM_005359.5(SMAD4):c.*5985A>G http://identifiers.org/clinvar/319930 ^@ NM_000339.2(SLC12A3):c.*404C>T http://identifiers.org/clinvar/327218 ^@ NM_005359.5(SMAD4):c.*6492A>T http://identifiers.org/clinvar/327227 ^@ NM_001083962.1(TCF4):c.*5319A>G http://identifiers.org/clinvar/327229 ^@ NM_001083962.1(TCF4):c.*5240T>C http://identifiers.org/clinvar/317911 ^@ NM_001287.5(CLCN7):c.*1403A>C http://identifiers.org/clinvar/327231 ^@ NM_001083962.1(TCF4):c.*5106T>C http://identifiers.org/clinvar/319931 ^@ NM_000339.2(SLC12A3):c.*495G>A http://identifiers.org/clinvar/317929 ^@ NM_001287.5(CLCN7):c.*614G>A http://identifiers.org/clinvar/317930 ^@ NM_001287.5(CLCN7):c.*592G>C http://identifiers.org/clinvar/319937 ^@ NM_000339.2(SLC12A3):c.*576C>G http://identifiers.org/clinvar/317940 ^@ NM_001287.5(CLCN7):c.*130G>A http://identifiers.org/clinvar/327241 ^@ NM_001083962.1(TCF4):c.*4324_*4325dupAA http://identifiers.org/clinvar/319939 ^@ NM_000339.2(SLC12A3):c.*735C>T http://identifiers.org/clinvar/317944 ^@ NM_001287.5(CLCN7):c.2154C>T (p.Phe718=) http://identifiers.org/clinvar/317945 ^@ NM_001287.5(CLCN7):c.2150G>A (p.Arg717His) http://identifiers.org/clinvar/327240 ^@ NM_001083962.1(TCF4):c.*4325dupA http://identifiers.org/clinvar/327246 ^@ NM_001083962.1(TCF4):c.*4088T>C http://identifiers.org/clinvar/319945 ^@ NM_000339.2(SLC12A3):c.*1000A>G http://identifiers.org/clinvar/317955 ^@ NM_001287.5(CLCN7):c.777C>T (p.Ala259=) http://identifiers.org/clinvar/327251 ^@ NM_001083962.1(TCF4):c.*3981_*3982delAA http://identifiers.org/clinvar/317958 ^@ NM_001287.5(CLCN7):c.595-3C>T http://identifiers.org/clinvar/319948 ^@ NM_000339.2(SLC12A3):c.*1266G>T http://identifiers.org/clinvar/319960 ^@ NM_000339.2(SLC12A3):c.*2051C>T http://identifiers.org/clinvar/327250 ^@ NM_001083962.1(TCF4):c.*3982delA http://identifiers.org/clinvar/317966 ^@ NM_001287.5(CLCN7):c.132T>A (p.Ala44=) http://identifiers.org/clinvar/317979 ^@ NM_014714.3(IFT140):c.*153C>T http://identifiers.org/clinvar/319963 ^@ NM_000339.2(SLC12A3):c.*2133T>C http://identifiers.org/clinvar/319964 ^@ NM_000339.2(SLC12A3):c.*2295T>C http://identifiers.org/clinvar/319965 ^@ NM_000339.2(SLC12A3):c.*2318A>C http://identifiers.org/clinvar/327249 ^@ NM_001083962.1(TCF4):c.*3982dupA http://identifiers.org/clinvar/319969 ^@ NM_000339.2(SLC12A3):c.*2432T>C http://identifiers.org/clinvar/317982 ^@ NM_014714.3(IFT140):c.*46T>G http://identifiers.org/clinvar/319971 ^@ NM_000078.2(CETP):c.66C>A (p.Thr22=) http://identifiers.org/clinvar/327267 ^@ NM_001083962.1(TCF4):c.*2822G>A http://identifiers.org/clinvar/317984 ^@ NM_014714.3(IFT140):c.4381G>A (p.Asp1461Asn) http://identifiers.org/clinvar/327276 ^@ NM_001083962.1(TCF4):c.*2010dupT http://identifiers.org/clinvar/319972 ^@ NM_000078.2(CETP):c.92G>A (p.Arg31His) http://identifiers.org/clinvar/317985 ^@ NM_014714.3(IFT140):c.4380C>T (p.Asp1460=) http://identifiers.org/clinvar/327277 ^@ NM_001083962.1(TCF4):c.*2001G>T http://identifiers.org/clinvar/319973 ^@ NM_000078.2(CETP):c.214G>C (p.Val72Leu) http://identifiers.org/clinvar/327278 ^@ NM_001083962.1(TCF4):c.*1971_*1973delTAT http://identifiers.org/clinvar/319974 ^@ NM_000078.2(CETP):c.239A>G (p.Gln80Arg) http://identifiers.org/clinvar/327280 ^@ NM_001083962.1(TCF4):c.*1903G>A http://identifiers.org/clinvar/319975 ^@ NM_000078.2(CETP):c.312G>A (p.Gln104=) http://identifiers.org/clinvar/327282 ^@ NM_001083962.1(TCF4):c.*1827C>T http://identifiers.org/clinvar/317989 ^@ NM_014714.3(IFT140):c.4148T>C (p.Val1383Ala) http://identifiers.org/clinvar/319976 ^@ NM_000078.2(CETP):c.316G>A (p.Val106Met) http://identifiers.org/clinvar/317991 ^@ NM_014714.3(IFT140):c.4026C>T (p.Phe1342=) http://identifiers.org/clinvar/319977 ^@ NM_000078.2(CETP):c.439+11A>C http://identifiers.org/clinvar/327284 ^@ NM_001083962.1(TCF4):c.*1763C>A http://identifiers.org/clinvar/319982 ^@ NM_000078.2(CETP):c.663C>A (p.Ser221Arg) http://identifiers.org/clinvar/327285 ^@ NM_001083962.1(TCF4):c.*1761delA http://identifiers.org/clinvar/317992 ^@ NM_014714.3(IFT140):c.3993G>C (p.Gln1331His) http://identifiers.org/clinvar/317996 ^@ NM_014714.3(IFT140):c.3788C>T (p.Pro1263Leu) http://identifiers.org/clinvar/319983 ^@ NM_000078.2(CETP):c.804G>T (p.Ser268=) http://identifiers.org/clinvar/319992 ^@ NM_000078.2(CETP):c.1161C>T (p.Thr387=) http://identifiers.org/clinvar/327286 ^@ NM_001083962.1(TCF4):c.*1576T>C http://identifiers.org/clinvar/320001 ^@ NM_020312.3(COQ9):c.-37C>G http://identifiers.org/clinvar/327287 ^@ NM_001083962.1(TCF4):c.*1339dupT http://identifiers.org/clinvar/320006 ^@ NM_020312.3(COQ9):c.305G>A (p.Arg102His) http://identifiers.org/clinvar/327288 ^@ NM_001083962.1(TCF4):c.*1201C>T http://identifiers.org/clinvar/320008 ^@ NM_020312.3(COQ9):c.337G>A (p.Ala113Thr) http://identifiers.org/clinvar/327289 ^@ NM_001083962.1(TCF4):c.*1100T>C http://identifiers.org/clinvar/318002 ^@ NM_014714.3(IFT140):c.3668G>A (p.Arg1223Lys) http://identifiers.org/clinvar/327290 ^@ NM_001083962.1(TCF4):c.*909G>A http://identifiers.org/clinvar/318004 ^@ NM_014714.3(IFT140):c.3602G>A (p.Arg1201His) http://identifiers.org/clinvar/318007 ^@ NM_014714.3(IFT140):c.3558G>A (p.Glu1186=) http://identifiers.org/clinvar/320011 ^@ NM_020312.3(COQ9):c.*74G>A http://identifiers.org/clinvar/320018 ^@ NM_020312.3(COQ9):c.*622A>G http://identifiers.org/clinvar/318009 ^@ NM_014714.3(IFT140):c.3501C>T (p.Thr1167=) http://identifiers.org/clinvar/320020 ^@ NM_001297.4(CNGB1):c.*1606G>A http://identifiers.org/clinvar/327293 ^@ NM_001083962.1(TCF4):c.*785_*786dupTT http://identifiers.org/clinvar/320024 ^@ NM_001297.4(CNGB1):c.*1363_*1364dupAA http://identifiers.org/clinvar/320028 ^@ NM_001297.4(CNGB1):c.*1233T>C http://identifiers.org/clinvar/320029 ^@ NM_001297.4(CNGB1):c.*1228C>G http://identifiers.org/clinvar/320036 ^@ NM_001297.4(CNGB1):c.*891_*894delCAAA http://identifiers.org/clinvar/327294 ^@ NM_001083962.1(TCF4):c.*786delT http://identifiers.org/clinvar/318010 ^@ NM_014714.3(IFT140):c.3490A>G (p.Met1164Val) http://identifiers.org/clinvar/320046 ^@ NM_001297.4(CNGB1):c.*310T>C http://identifiers.org/clinvar/327305 ^@ NM_001083962.1(TCF4):c.687C>A (p.Ser229=) http://identifiers.org/clinvar/320047 ^@ NM_001297.4(CNGB1):c.*281T>C http://identifiers.org/clinvar/327308 ^@ NM_001083962.1(TCF4):c.-125C>T http://identifiers.org/clinvar/318014 ^@ NM_014714.3(IFT140):c.3271-4G>A http://identifiers.org/clinvar/327309 ^@ NM_001083962.1(TCF4):c.-142_-140dupCGG http://identifiers.org/clinvar/318034 ^@ NM_014714.3(IFT140):c.3147C>T (p.Asn1049=) http://identifiers.org/clinvar/320062 ^@ NM_001297.4(CNGB1):c.3366G>A (p.Lys1122=) http://identifiers.org/clinvar/320068 ^@ NM_001297.4(CNGB1):c.2881G>T (p.Ala961Ser) http://identifiers.org/clinvar/327311 ^@ NM_001083962.1(TCF4):c.-272G>A http://identifiers.org/clinvar/318039 ^@ NM_014714.3(IFT140):c.3079G>A (p.Gly1027Arg) http://identifiers.org/clinvar/327312 ^@ NM_001083962.1(TCF4):c.-362A>C http://identifiers.org/clinvar/318047 ^@ NM_014714.3(IFT140):c.2682_2683insA (p.His895Thrfs) http://identifiers.org/clinvar/320076 ^@ NM_001297.4(CNGB1):c.2501G>T (p.Arg834Leu) http://identifiers.org/clinvar/320081 ^@ NM_001297.4(CNGB1):c.2091A>G (p.Leu697=) http://identifiers.org/clinvar/318016 ^@ NM_001143979.1(NDE1):c.-773G>A http://identifiers.org/clinvar/327313 ^@ NM_001083962.1(TCF4):c.-453G>A http://identifiers.org/clinvar/320082 ^@ NM_001297.4(CNGB1):c.2030G>T (p.Arg677Leu) http://identifiers.org/clinvar/327314 ^@ NM_001083962.1(TCF4):c.-474T>G http://identifiers.org/clinvar/320084 ^@ NM_001297.4(CNGB1):c.1950G>C (p.Pro650=) http://identifiers.org/clinvar/327315 ^@ NM_000140.3(FECH):c.*5801T>G http://identifiers.org/clinvar/318020 ^@ NM_001143979.1(NDE1):c.-675G>A http://identifiers.org/clinvar/320089 ^@ NM_001297.4(CNGB1):c.1770C>G (p.Asp590Glu) http://identifiers.org/clinvar/327317 ^@ NM_000140.3(FECH):c.*5588G>A http://identifiers.org/clinvar/327318 ^@ NM_000140.3(FECH):c.*5394G>T http://identifiers.org/clinvar/318022 ^@ NM_001143979.1(NDE1):c.-545A>G http://identifiers.org/clinvar/320092 ^@ NM_001297.4(CNGB1):c.1500C>T (p.Thr500=) http://identifiers.org/clinvar/327325 ^@ NM_000140.3(FECH):c.*5090G>A http://identifiers.org/clinvar/318023 ^@ NM_001143979.1(NDE1):c.-535delC http://identifiers.org/clinvar/327328 ^@ NM_000140.3(FECH):c.*4886T>G http://identifiers.org/clinvar/320098 ^@ NM_001297.4(CNGB1):c.1149G>T (p.Ser383=) http://identifiers.org/clinvar/327329 ^@ NM_000140.3(FECH):c.*4883_*4884insC http://identifiers.org/clinvar/320110 ^@ NM_001297.4(CNGB1):c.299G>A (p.Arg100His) http://identifiers.org/clinvar/320116 ^@ NM_001297.4(CNGB1):c.-47A>G http://identifiers.org/clinvar/318026 ^@ NM_001143979.1(NDE1):c.-512T>G http://identifiers.org/clinvar/318029 ^@ NM_001143979.1(NDE1):c.-353A>G http://identifiers.org/clinvar/318030 ^@ NM_001143979.1(NDE1):c.-340T>A http://identifiers.org/clinvar/320119 ^@ NM_004614.4(TK2):c.*3438G>A http://identifiers.org/clinvar/320125 ^@ NM_004614.4(TK2):c.*2419C>T http://identifiers.org/clinvar/318031 ^@ NM_001143979.1(NDE1):c.-261_-258delGAAA http://identifiers.org/clinvar/320126 ^@ NM_004614.4(TK2):c.*2298C>T http://identifiers.org/clinvar/327332 ^@ NM_000140.3(FECH):c.*4720T>C http://identifiers.org/clinvar/327339 ^@ NM_000140.3(FECH):c.*4449A>G http://identifiers.org/clinvar/318032 ^@ NM_001143979.1(NDE1):c.-232A>G http://identifiers.org/clinvar/318186 ^@ NM_014714.3(IFT140):c.1831G>A (p.Val611Ile) http://identifiers.org/clinvar/327342 ^@ NM_000140.3(FECH):c.*4367C>T http://identifiers.org/clinvar/327344 ^@ NM_000140.3(FECH):c.*4337G>A http://identifiers.org/clinvar/318044 ^@ NM_001143979.1(NDE1):c.-35C>T http://identifiers.org/clinvar/320131 ^@ NM_004614.4(TK2):c.*1758delG http://identifiers.org/clinvar/320133 ^@ NM_004614.4(TK2):c.*1739_*1740insC http://identifiers.org/clinvar/320136 ^@ NM_004614.4(TK2):c.*1682T>G http://identifiers.org/clinvar/320140 ^@ NM_004614.4(TK2):c.*1472A>T http://identifiers.org/clinvar/327345 ^@ NM_000140.3(FECH):c.*4336A>G http://identifiers.org/clinvar/327351 ^@ NM_000140.3(FECH):c.*3841C>T http://identifiers.org/clinvar/320146 ^@ NM_004614.4(TK2):c.*921G>A http://identifiers.org/clinvar/320149 ^@ NM_004614.4(TK2):c.*765T>C http://identifiers.org/clinvar/327356 ^@ NM_000140.3(FECH):c.*3716C>T http://identifiers.org/clinvar/327357 ^@ NM_000140.3(FECH):c.*3691C>T http://identifiers.org/clinvar/320150 ^@ NM_004614.4(TK2):c.*688C>T http://identifiers.org/clinvar/327361 ^@ NM_000140.3(FECH):c.*3377G>T http://identifiers.org/clinvar/318045 ^@ NM_001143979.1(NDE1):c.12C>T (p.Ser4=) http://identifiers.org/clinvar/327371 ^@ NM_000140.3(FECH):c.*2600G>A http://identifiers.org/clinvar/320155 ^@ NM_004614.4(TK2):c.*444G>T http://identifiers.org/clinvar/320157 ^@ NM_004614.4(TK2):c.450-13A>G http://identifiers.org/clinvar/327380 ^@ NM_000140.3(FECH):c.*2446_*2450delGTTTT http://identifiers.org/clinvar/327392 ^@ NM_000140.3(FECH):c.*1508G>A http://identifiers.org/clinvar/320159 ^@ NM_004614.4(TK2):c.124+6G>C http://identifiers.org/clinvar/320161 ^@ NM_004614.4(TK2):c.-216G>A http://identifiers.org/clinvar/320165 ^@ NM_001538.3(HSF4):c.-832G>A http://identifiers.org/clinvar/318062 ^@ NM_001143979.1(NDE1):c.690G>A (p.Gly230=) http://identifiers.org/clinvar/318068 ^@ NM_001143979.1(NDE1):c.921C>A (p.Ser307Arg) http://identifiers.org/clinvar/318072 ^@ NM_001143979.1(NDE1):c.947+6421_947+6422delCT http://identifiers.org/clinvar/327400 ^@ NM_000140.3(FECH):c.*1176G>A http://identifiers.org/clinvar/318076 ^@ NM_001143979.1(NDE1):c.947+6554T>C http://identifiers.org/clinvar/327409 ^@ NM_000140.3(FECH):c.*892T>C http://identifiers.org/clinvar/327413 ^@ NM_000140.3(FECH):c.*571G>A http://identifiers.org/clinvar/320168 ^@ NM_001538.3(HSF4):c.-565G>A http://identifiers.org/clinvar/318081 ^@ NM_001143979.1(NDE1):c.947+6711G>C http://identifiers.org/clinvar/320169 ^@ NM_001538.3(HSF4):c.-448A>G http://identifiers.org/clinvar/318083 ^@ NM_001143979.1(NDE1):c.947+6903A>G http://identifiers.org/clinvar/327414 ^@ NM_000140.3(FECH):c.*481A>G http://identifiers.org/clinvar/318085 ^@ NM_001143979.1(NDE1):c.947+7069_947+7073delTTTTT http://identifiers.org/clinvar/320171 ^@ NM_001538.3(HSF4):c.-250C>T http://identifiers.org/clinvar/318086 ^@ NM_002474.2(MYH11):c.*37C>A http://identifiers.org/clinvar/327427 ^@ NM_000140.3(FECH):c.912+14A>G http://identifiers.org/clinvar/318093 ^@ NM_001143979.1(NDE1):c.948-6974C>G http://identifiers.org/clinvar/327429 ^@ NM_000140.3(FECH):c.819C>T (p.Gly273=) http://identifiers.org/clinvar/320173 ^@ NM_001538.3(HSF4):c.-211A>G http://identifiers.org/clinvar/327432 ^@ NM_000140.3(FECH):c.385G>A (p.Gly129Arg) http://identifiers.org/clinvar/318106 ^@ NM_002474.2(MYH11):c.4809G>A (p.Thr1603=) http://identifiers.org/clinvar/318111 ^@ NM_001143979.1(NDE1):c.948-3135C>T http://identifiers.org/clinvar/320178 ^@ NM_001538.3(HSF4):c.203T>C (p.Met68Thr) http://identifiers.org/clinvar/327433 ^@ NM_000140.3(FECH):c.362A>G (p.Glu121Gly) http://identifiers.org/clinvar/320181 ^@ NM_001538.3(HSF4):c.523C>G (p.Arg175Gly) http://identifiers.org/clinvar/327436 ^@ NM_000140.3(FECH):c.139A>G (p.Thr47Ala) http://identifiers.org/clinvar/318114 ^@ NM_001143979.1(NDE1):c.*193G>A http://identifiers.org/clinvar/320182 ^@ NM_001538.3(HSF4):c.561+4T>G http://identifiers.org/clinvar/318117 ^@ NM_001040114.1(MYH11):c.4138-101C>A http://identifiers.org/clinvar/318120 ^@ NM_001143979.1(NDE1):c.*286G>A http://identifiers.org/clinvar/318126 ^@ NM_001143979.1(NDE1):c.*593A>G http://identifiers.org/clinvar/318134 ^@ NM_001040114.1(MYH11):c.3880-156T>G http://identifiers.org/clinvar/318133 ^@ NM_001143979.1(NDE1):c.*897_*898insC http://identifiers.org/clinvar/320186 ^@ NM_001538.3(HSF4):c.755G>A (p.Arg252Lys) http://identifiers.org/clinvar/320191 ^@ NM_001538.3(HSF4):c.1386C>A (p.Pro462=) http://identifiers.org/clinvar/318136 ^@ NM_001040114.1(MYH11):c.3880-171dupT http://identifiers.org/clinvar/327437 ^@ NM_000140.3(FECH):c.132C>T (p.Ala44=) http://identifiers.org/clinvar/327443 ^@ NM_005603.4(ATP8B1):c.*1524T>C http://identifiers.org/clinvar/320195 ^@ NM_000229.1(LCAT):c.*12T>C http://identifiers.org/clinvar/320199 ^@ NM_000229.1(LCAT):c.748+13C>G http://identifiers.org/clinvar/327445 ^@ NM_005603.4(ATP8B1):c.*1254T>C http://identifiers.org/clinvar/327448 ^@ NM_005603.4(ATP8B1):c.*968T>A http://identifiers.org/clinvar/318137 ^@ NM_001143979.1(NDE1):c.*913A>C http://identifiers.org/clinvar/327450 ^@ NM_005603.4(ATP8B1):c.*888C>G http://identifiers.org/clinvar/320207 ^@ NM_001793.5(CDH3):c.-635_-634insG http://identifiers.org/clinvar/320213 ^@ NM_001793.5(CDH3):c.-399G>C http://identifiers.org/clinvar/318139 ^@ NM_001143979.1(NDE1):c.*943C>T http://identifiers.org/clinvar/318143 ^@ NM_001143979.1(NDE1):c.*1299A>G http://identifiers.org/clinvar/327459 ^@ NM_005603.4(ATP8B1):c.*503G>T http://identifiers.org/clinvar/327479 ^@ NM_005603.4(ATP8B1):c.2098-19_2098-15dupTTTTT http://identifiers.org/clinvar/318144 ^@ NM_001143979.1(NDE1):c.*1388C>T http://identifiers.org/clinvar/318147 ^@ NM_001143979.1(NDE1):c.*1663C>A http://identifiers.org/clinvar/327487 ^@ NM_005603.4(ATP8B1):c.1556G>A (p.Gly519Glu) http://identifiers.org/clinvar/320214 ^@ NM_001793.5(CDH3):c.-302C>T http://identifiers.org/clinvar/327496 ^@ NM_005603.4(ATP8B1):c.-22-9T>C http://identifiers.org/clinvar/318150 ^@ NM_001040114.1(MYH11):c.3879+807A>G http://identifiers.org/clinvar/327497 ^@ NM_005603.4(ATP8B1):c.-32C>A http://identifiers.org/clinvar/320215 ^@ NM_001793.5(CDH3):c.-282G>T http://identifiers.org/clinvar/327500 ^@ NM_005603.4(ATP8B1):c.-103C>T http://identifiers.org/clinvar/318154 ^@ NM_001143979.1(NDE1):c.*2030T>C http://identifiers.org/clinvar/327501 ^@ NM_013435.2(RAX):c.*1878T>C http://identifiers.org/clinvar/320216 ^@ NM_001793.5(CDH3):c.-267C>T http://identifiers.org/clinvar/327508 ^@ NM_013435.2(RAX):c.*1516G>C http://identifiers.org/clinvar/320217 ^@ NM_001793.5(CDH3):c.-193G>T http://identifiers.org/clinvar/320219 ^@ NM_001793.5(CDH3):c.-140G>T http://identifiers.org/clinvar/318158 ^@ NM_002474.2(MYH11):c.3603C>G (p.His1201Gln) http://identifiers.org/clinvar/318177 ^@ NM_002474.2(MYH11):c.465C>T (p.Tyr155=) http://identifiers.org/clinvar/318180 ^@ NM_002474.2(MYH11):c.-88G>A http://identifiers.org/clinvar/320227 ^@ NM_001793.5(CDH3):c.612C>A (p.Ile204=) http://identifiers.org/clinvar/320232 ^@ NM_001793.5(CDH3):c.886C>G (p.Leu296Val) http://identifiers.org/clinvar/318199 ^@ NM_014714.3(IFT140):c.867C>T (p.Ser289=) http://identifiers.org/clinvar/318202 ^@ NM_014714.3(IFT140):c.838C>T (p.Arg280Trp) http://identifiers.org/clinvar/318208 ^@ NM_014714.3(IFT140):c.657G>A (p.Glu219=) http://identifiers.org/clinvar/320237 ^@ NM_001793.5(CDH3):c.1240G>A (p.Ala414Thr) http://identifiers.org/clinvar/320243 ^@ NM_001793.5(CDH3):c.1626T>C (p.Asn542=) http://identifiers.org/clinvar/320246 ^@ NM_001793.5(CDH3):c.1740G>C (p.Gln580His) http://identifiers.org/clinvar/320247 ^@ NM_001793.5(CDH3):c.1796-11G>T http://identifiers.org/clinvar/320249 ^@ NM_001793.5(CDH3):c.1932C>T (p.Val644=) http://identifiers.org/clinvar/320250 ^@ NM_001793.5(CDH3):c.1956G>A (p.Lys652=) http://identifiers.org/clinvar/320251 ^@ NM_001793.5(CDH3):c.2070A>G (p.Pro690=) http://identifiers.org/clinvar/318219 ^@ NM_014714.3(IFT140):c.36G>A (p.Pro12=) http://identifiers.org/clinvar/327517 ^@ NM_013435.2(RAX):c.*1361G>A http://identifiers.org/clinvar/320257 ^@ NM_001793.5(CDH3):c.*87G>C http://identifiers.org/clinvar/327520 ^@ NM_013435.2(RAX):c.*1300A>G http://identifiers.org/clinvar/320258 ^@ NM_001793.5(CDH3):c.*154G>T http://identifiers.org/clinvar/327521 ^@ NM_013435.2(RAX):c.*1272G>A http://identifiers.org/clinvar/320260 ^@ NM_001793.5(CDH3):c.*485A>G http://identifiers.org/clinvar/318225 ^@ NM_014714.3(IFT140):c.-267G>C http://identifiers.org/clinvar/318227 ^@ NM_004970.2(IGFALS):c.*175C>T http://identifiers.org/clinvar/320267 ^@ NM_004360.4(CDH1):c.*54C>T http://identifiers.org/clinvar/320269 ^@ NM_004360.4(CDH1):c.*192C>T http://identifiers.org/clinvar/327523 ^@ NM_013435.2(RAX):c.*908T>C http://identifiers.org/clinvar/327526 ^@ NM_013435.2(RAX):c.*328A>G http://identifiers.org/clinvar/318230 ^@ NM_004970.2(IGFALS):c.*102C>G http://identifiers.org/clinvar/320276 ^@ NM_004360.4(CDH1):c.*409T>A http://identifiers.org/clinvar/327528 ^@ NM_013435.2(RAX):c.*236C>T http://identifiers.org/clinvar/320290 ^@ NM_004360.4(CDH1):c.*1076T>C http://identifiers.org/clinvar/327533 ^@ NM_013435.2(RAX):c.544-11C>G http://identifiers.org/clinvar/320291 ^@ NM_004360.4(CDH1):c.*1120T>C http://identifiers.org/clinvar/327543 ^@ NM_005570.3(LMAN1):c.*2602G>T http://identifiers.org/clinvar/318232 ^@ NM_004970.2(IGFALS):c.1724C>T (p.Ala575Val) http://identifiers.org/clinvar/327545 ^@ NM_005570.3(LMAN1):c.*2387A>G http://identifiers.org/clinvar/327549 ^@ NM_005570.3(LMAN1):c.*2044A>G http://identifiers.org/clinvar/318235 ^@ NM_004970.2(IGFALS):c.1642C>T (p.Arg548Trp) http://identifiers.org/clinvar/318243 ^@ NM_004970.2(IGFALS):c.1195G>A (p.Gly399Arg) http://identifiers.org/clinvar/318253 ^@ NM_004970.2(IGFALS):c.777G>A (p.Pro259=) http://identifiers.org/clinvar/318255 ^@ NM_004970.2(IGFALS):c.646G>A (p.Gly216Ser) http://identifiers.org/clinvar/318262 ^@ NM_004970.2(IGFALS):c.289C>T (p.Leu97Phe) http://identifiers.org/clinvar/327564 ^@ NM_005570.3(LMAN1):c.*424T>G http://identifiers.org/clinvar/327574 ^@ NM_005570.3(LMAN1):c.663A>G (p.Thr221=) http://identifiers.org/clinvar/318271 ^@ NM_004970.2(IGFALS):c.33G>A (p.Ala11=) http://identifiers.org/clinvar/320295 ^@ NM_004360.4(CDH1):c.*1591T>C http://identifiers.org/clinvar/327582 ^@ NM_133459.3(CCBE1):c.*4956A>C http://identifiers.org/clinvar/318278 ^@ NM_003361.3(UMOD):c.*130C>T http://identifiers.org/clinvar/327583 ^@ NM_133459.3(CCBE1):c.*4945C>A http://identifiers.org/clinvar/318284 ^@ NM_003361.3(UMOD):c.1742C>A (p.Thr581Asn) http://identifiers.org/clinvar/327588 ^@ NM_133459.3(CCBE1):c.*4796G>A http://identifiers.org/clinvar/318286 ^@ NM_003361.3(UMOD):c.1500A>G (p.Ala500=) http://identifiers.org/clinvar/327592 ^@ NM_133459.3(CCBE1):c.*4715T>G http://identifiers.org/clinvar/320306 ^@ NM_032382.4(COG8):c.*330G>T http://identifiers.org/clinvar/320307 ^@ NM_032382.4(COG8):c.*196dupT http://identifiers.org/clinvar/327597 ^@ NM_133459.3(CCBE1):c.*4398C>A http://identifiers.org/clinvar/320309 ^@ NM_032382.4(COG8):c.1692C>T (p.Thr564=) http://identifiers.org/clinvar/327611 ^@ NM_133459.3(CCBE1):c.*3533C>A http://identifiers.org/clinvar/318288 ^@ NM_003361.3(UMOD):c.1458C>T (p.Tyr486=) http://identifiers.org/clinvar/327614 ^@ NM_133459.3(CCBE1):c.*3162T>C http://identifiers.org/clinvar/327617 ^@ NM_133459.3(CCBE1):c.*3080A>G http://identifiers.org/clinvar/327619 ^@ NM_133459.3(CCBE1):c.*2978T>A http://identifiers.org/clinvar/320312 ^@ NM_032382.4(COG8):c.1099T>C (p.Leu367=) http://identifiers.org/clinvar/320316 ^@ NM_032382.4(COG8):c.690C>T (p.Gly230=) http://identifiers.org/clinvar/318289 ^@ NM_003361.3(UMOD):c.1375C>T (p.Arg459Trp) http://identifiers.org/clinvar/327621 ^@ NM_133459.3(CCBE1):c.*2951_*2952dupAA http://identifiers.org/clinvar/318299 ^@ NM_003361.3(UMOD):c.-47T>C http://identifiers.org/clinvar/327620 ^@ NM_133459.3(CCBE1):c.*2952dupA http://identifiers.org/clinvar/327627 ^@ NM_133459.3(CCBE1):c.*2833C>A http://identifiers.org/clinvar/318300 ^@ NM_003361.3(UMOD):c.-56G>A http://identifiers.org/clinvar/320318 ^@ NM_032382.4(COG8):c.249C>G (p.Ala83=) http://identifiers.org/clinvar/327631 ^@ NM_133459.3(CCBE1):c.*2771A>G http://identifiers.org/clinvar/320331 ^@ NM_001605.2(AARS):c.2240A>G (p.Lys747Arg) http://identifiers.org/clinvar/320335 ^@ NM_001605.2(AARS):c.1846C>T (p.Arg616Cys) http://identifiers.org/clinvar/327643 ^@ NM_133459.3(CCBE1):c.*2299T>A http://identifiers.org/clinvar/327647 ^@ NM_133459.3(CCBE1):c.*2210T>C http://identifiers.org/clinvar/318303 ^@ NM_000548.4(TSC2):c.-65G>C http://identifiers.org/clinvar/320338 ^@ NM_001605.2(AARS):c.1611G>T (p.Glu537Asp) http://identifiers.org/clinvar/327648 ^@ NM_133459.3(CCBE1):c.*2178C>T http://identifiers.org/clinvar/320345 ^@ NM_001605.2(AARS):c.1120A>G (p.Ile374Val) http://identifiers.org/clinvar/327650 ^@ NM_133459.3(CCBE1):c.*2143G>A http://identifiers.org/clinvar/320353 ^@ NM_001605.2(AARS):c.480-8T>G http://identifiers.org/clinvar/327652 ^@ NM_133459.3(CCBE1):c.*2058G>A http://identifiers.org/clinvar/318305 ^@ NM_000548.4(TSC2):c.258G>C (p.Ala86=) http://identifiers.org/clinvar/327654 ^@ NM_133459.3(CCBE1):c.*2023G>C http://identifiers.org/clinvar/327655 ^@ NM_133459.3(CCBE1):c.*2020C>T http://identifiers.org/clinvar/327657 ^@ NM_133459.3(CCBE1):c.*2017G>A http://identifiers.org/clinvar/320357 ^@ NM_001605.2(AARS):c.-108T>C http://identifiers.org/clinvar/320358 ^@ NM_015386.2(COG4):c.*407T>G http://identifiers.org/clinvar/318313 ^@ NM_000548.4(TSC2):c.1622C>G (p.Pro541Arg) http://identifiers.org/clinvar/327660 ^@ NM_133459.3(CCBE1):c.*1991_*1994delTAAA http://identifiers.org/clinvar/318321 ^@ NM_000548.4(TSC2):c.2355+8G>A http://identifiers.org/clinvar/327663 ^@ NM_133459.3(CCBE1):c.*1933dupG http://identifiers.org/clinvar/327668 ^@ NM_133459.3(CCBE1):c.*1697G>C http://identifiers.org/clinvar/318323 ^@ NM_000548.4(TSC2):c.2834A>G (p.Lys945Arg) http://identifiers.org/clinvar/318324 ^@ NM_000548.4(TSC2):c.2848G>C (p.Ala950Pro) http://identifiers.org/clinvar/318325 ^@ NM_000548.4(TSC2):c.3196C>T (p.Leu1066Phe) http://identifiers.org/clinvar/320368 ^@ NM_015386.2(COG4):c.2004+11G>C http://identifiers.org/clinvar/320377 ^@ NM_015386.2(COG4):c.739-9C>G http://identifiers.org/clinvar/318334 ^@ NM_000548.4(TSC2):c.4888G>A (p.Val1630Met) http://identifiers.org/clinvar/320382 ^@ NM_015386.2(COG4):c.171+3G>A http://identifiers.org/clinvar/318339 ^@ NM_000548.4(TSC2):c.*23C>T http://identifiers.org/clinvar/318340 ^@ NM_000548.4(TSC2):c.*44T>C http://identifiers.org/clinvar/327676 ^@ NM_133459.3(CCBE1):c.*1258C>G http://identifiers.org/clinvar/320384 ^@ NM_015386.2(COG4):c.59C>T (p.Pro20Leu) http://identifiers.org/clinvar/320386 ^@ NM_000353.2(TAT):c.*1276T>A http://identifiers.org/clinvar/327685 ^@ NM_133459.3(CCBE1):c.*752T>C http://identifiers.org/clinvar/318342 ^@ NM_000548.4(TSC2):c.*77G>A http://identifiers.org/clinvar/327686 ^@ NM_133459.3(CCBE1):c.*739A>T http://identifiers.org/clinvar/320390 ^@ NM_000353.2(TAT):c.*983A>G http://identifiers.org/clinvar/318382 ^@ NM_001089.2(ABCA3):c.*621C>T http://identifiers.org/clinvar/320395 ^@ NM_000353.2(TAT):c.*581G>A http://identifiers.org/clinvar/320397 ^@ NM_000353.2(TAT):c.*350_*352delGAA http://identifiers.org/clinvar/320406 ^@ NM_000353.2(TAT):c.1046A>G (p.Asn349Ser) http://identifiers.org/clinvar/320410 ^@ NM_000353.2(TAT):c.614T>C (p.Ile205Thr) http://identifiers.org/clinvar/318384 ^@ NM_001089.2(ABCA3):c.*406C>T http://identifiers.org/clinvar/318387 ^@ NM_001089.2(ABCA3):c.*268G>A http://identifiers.org/clinvar/320413 ^@ NM_000353.2(TAT):c.269A>G (p.Asp90Gly) http://identifiers.org/clinvar/320415 ^@ NM_000353.2(TAT):c.43C>T (p.Pro15Ser) http://identifiers.org/clinvar/320416 ^@ NM_000353.2(TAT):c.-7G>A http://identifiers.org/clinvar/318394 ^@ NM_001089.2(ABCA3):c.4896C>G (p.Asp1632Glu) http://identifiers.org/clinvar/327692 ^@ NM_133459.3(CCBE1):c.*337T>G http://identifiers.org/clinvar/320423 ^@ NM_001361.4(DHODH):c.517+8G>A http://identifiers.org/clinvar/327693 ^@ NM_133459.3(CCBE1):c.*306_*307insAAAT http://identifiers.org/clinvar/327696 ^@ NM_133459.3(CCBE1):c.*194A>G http://identifiers.org/clinvar/318395 ^@ NM_001089.2(ABCA3):c.4735G>T (p.Ala1579Ser) http://identifiers.org/clinvar/320427 ^@ NM_001361.4(DHODH):c.681C>T (p.Ala227=) http://identifiers.org/clinvar/327697 ^@ NM_133459.3(CCBE1):c.*160A>G http://identifiers.org/clinvar/318398 ^@ NM_001089.2(ABCA3):c.4528A>G (p.Lys1510Glu) http://identifiers.org/clinvar/320428 ^@ NM_001361.4(DHODH):c.682G>A (p.Glu228Lys) http://identifiers.org/clinvar/320437 ^@ NM_001361.4(DHODH):c.949C>T (p.Arg317Trp) http://identifiers.org/clinvar/318402 ^@ NM_001089.2(ABCA3):c.4012G>A (p.Ala1338Thr) http://identifiers.org/clinvar/320441 ^@ NM_001361.4(DHODH):c.*14C>T http://identifiers.org/clinvar/320442 ^@ NM_001361.4(DHODH):c.*64C>G http://identifiers.org/clinvar/327700 ^@ NM_133459.3(CCBE1):c.*70A>G http://identifiers.org/clinvar/327705 ^@ NM_133459.3(CCBE1):c.654+10G>A http://identifiers.org/clinvar/320447 ^@ NM_001361.4(DHODH):c.*500G>A http://identifiers.org/clinvar/320448 ^@ NM_001361.4(DHODH):c.*569G>A http://identifiers.org/clinvar/327708 ^@ NM_133459.3(CCBE1):c.265+8A>C http://identifiers.org/clinvar/327714 ^@ NM_005912.2(MC4R):c.201G>A (p.Val67=) http://identifiers.org/clinvar/320456 ^@ NM_001361.4(DHODH):c.*980A>G http://identifiers.org/clinvar/327715 ^@ NM_005912.2(MC4R):c.-18T>C http://identifiers.org/clinvar/320475 ^@ NM_024306.4(FA2H):c.*652C>T http://identifiers.org/clinvar/327718 ^@ NM_005912.2(MC4R):c.-161C>T http://identifiers.org/clinvar/320477 ^@ NM_024306.4(FA2H):c.*637G>C http://identifiers.org/clinvar/327720 ^@ NM_005912.2(MC4R):c.-220G>A http://identifiers.org/clinvar/318407 ^@ NM_001089.2(ABCA3):c.3784A>G (p.Ser1262Gly) http://identifiers.org/clinvar/327723 ^@ NM_003839.3(TNFRSF11A):c.-49G>A http://identifiers.org/clinvar/318409 ^@ NM_001089.2(ABCA3):c.3602T>A (p.Phe1201Tyr) http://identifiers.org/clinvar/327724 ^@ NM_003839.3(TNFRSF11A):c.29C>T (p.Pro10Leu) http://identifiers.org/clinvar/327725 ^@ NM_003839.3(TNFRSF11A):c.68G>A (p.Arg23Gln) http://identifiers.org/clinvar/320478 ^@ NM_024306.4(FA2H):c.*520G>A http://identifiers.org/clinvar/320487 ^@ NM_024306.4(FA2H):c.*243G>A http://identifiers.org/clinvar/318415 ^@ NM_001089.2(ABCA3):c.3335C>G (p.Ala1112Gly) http://identifiers.org/clinvar/320492 ^@ NM_024306.4(FA2H):c.1087A>C (p.Thr363Pro) http://identifiers.org/clinvar/320496 ^@ NM_024306.4(FA2H):c.570C>A (p.Thr190=) http://identifiers.org/clinvar/327732 ^@ NM_003839.3(TNFRSF11A):c.543A>T (p.Arg181Ser) http://identifiers.org/clinvar/327735 ^@ NM_003839.3(TNFRSF11A):c.999C>T (p.Thr333=) http://identifiers.org/clinvar/320497 ^@ NM_024306.4(FA2H):c.540G>T (p.Val180=) http://identifiers.org/clinvar/327739 ^@ NM_003839.3(TNFRSF11A):c.*125T>C http://identifiers.org/clinvar/318426 ^@ NM_001089.2(ABCA3):c.3207C>T (p.His1069=) http://identifiers.org/clinvar/327744 ^@ NM_003839.3(TNFRSF11A):c.*321delT http://identifiers.org/clinvar/320508 ^@ NM_021615.4(CHST6):c.*5187T>G http://identifiers.org/clinvar/327754 ^@ NM_003839.3(TNFRSF11A):c.*705G>A http://identifiers.org/clinvar/318428 ^@ NM_001089.2(ABCA3):c.3004+15G>A http://identifiers.org/clinvar/320512 ^@ NM_021615.4(CHST6):c.*4880G>A http://identifiers.org/clinvar/318453 ^@ NM_001089.2(ABCA3):c.2659C>T (p.Leu887Phe) http://identifiers.org/clinvar/318454 ^@ NM_001089.2(ABCA3):c.2616C>T (p.Ser872=) http://identifiers.org/clinvar/327757 ^@ NM_003839.3(TNFRSF11A):c.*938T>C http://identifiers.org/clinvar/318488 ^@ NM_001089.2(ABCA3):c.2316C>A (p.Asp772Glu) http://identifiers.org/clinvar/320516 ^@ NM_021615.4(CHST6):c.*4487C>T http://identifiers.org/clinvar/318500 ^@ NM_001089.2(ABCA3):c.1897-12delC http://identifiers.org/clinvar/318505 ^@ NM_001089.2(ABCA3):c.1612-9T>C http://identifiers.org/clinvar/327758 ^@ NM_003839.3(TNFRSF11A):c.*1057A>T http://identifiers.org/clinvar/327759 ^@ NM_003839.3(TNFRSF11A):c.*1231A>G http://identifiers.org/clinvar/320518 ^@ NM_021615.4(CHST6):c.*4373dupT http://identifiers.org/clinvar/320519 ^@ NM_021615.4(CHST6):c.*4366T>C http://identifiers.org/clinvar/327760 ^@ NM_003839.3(TNFRSF11A):c.*1251dupT http://identifiers.org/clinvar/320522 ^@ NM_021615.4(CHST6):c.*4155C>T http://identifiers.org/clinvar/320528 ^@ NM_021615.4(CHST6):c.*3815G>A http://identifiers.org/clinvar/318548 ^@ NM_001089.2(ABCA3):c.1304G>A (p.Arg435Gln) http://identifiers.org/clinvar/318345 ^@ NM_001039.3(SCNN1G):c.-23G>A http://identifiers.org/clinvar/320533 ^@ NM_021615.4(CHST6):c.*3643_*3644delCA http://identifiers.org/clinvar/320543 ^@ NM_021615.4(CHST6):c.*2955C>T http://identifiers.org/clinvar/320544 ^@ NM_021615.4(CHST6):c.*2947G>T http://identifiers.org/clinvar/320549 ^@ NM_021615.4(CHST6):c.*2437C>T http://identifiers.org/clinvar/327762 ^@ NM_005786.5(TSHZ1):c.-508G>A http://identifiers.org/clinvar/327764 ^@ NM_005786.5(TSHZ1):c.-445dupT http://identifiers.org/clinvar/320552 ^@ NM_021615.4(CHST6):c.*2327C>T http://identifiers.org/clinvar/327769 ^@ NM_005786.5(TSHZ1):c.-443_-441delAGG http://identifiers.org/clinvar/320555 ^@ NM_021615.4(CHST6):c.*2080delT http://identifiers.org/clinvar/320559 ^@ NM_021615.4(CHST6):c.*1919C>T http://identifiers.org/clinvar/320564 ^@ NM_021615.4(CHST6):c.*1758A>T http://identifiers.org/clinvar/320571 ^@ NM_021615.4(CHST6):c.*1407C>G http://identifiers.org/clinvar/318346 ^@ NM_001039.3(SCNN1G):c.399G>A (p.Glu133=) http://identifiers.org/clinvar/318349 ^@ NM_001039.3(SCNN1G):c.477G>A (p.Pro159=) http://identifiers.org/clinvar/320575 ^@ NM_021615.4(CHST6):c.*1324C>T http://identifiers.org/clinvar/318350 ^@ NM_001039.3(SCNN1G):c.538C>T (p.Arg180Trp) http://identifiers.org/clinvar/327771 ^@ NM_005786.5(TSHZ1):c.-432dupG http://identifiers.org/clinvar/327777 ^@ NM_005786.5(TSHZ1):c.-381T>C http://identifiers.org/clinvar/318354 ^@ NM_001039.3(SCNN1G):c.1083G>A (p.Glu361=) http://identifiers.org/clinvar/327788 ^@ NM_005786.5(TSHZ1):c.-185G>C http://identifiers.org/clinvar/320577 ^@ NM_021615.4(CHST6):c.*1295T>C http://identifiers.org/clinvar/327790 ^@ NM_005786.5(TSHZ1):c.-108C>T http://identifiers.org/clinvar/318355 ^@ NM_001039.3(SCNN1G):c.1187A>G (p.His396Arg) http://identifiers.org/clinvar/327791 ^@ NM_005786.5(TSHZ1):c.-106C>A http://identifiers.org/clinvar/318360 ^@ NM_001039.3(SCNN1G):c.1827G>C (p.Leu609Phe) http://identifiers.org/clinvar/318366 ^@ NM_001039.3(SCNN1G):c.*328G>A http://identifiers.org/clinvar/318368 ^@ NM_001039.3(SCNN1G):c.*584G>A http://identifiers.org/clinvar/320578 ^@ NM_021615.4(CHST6):c.*1118A>G http://identifiers.org/clinvar/320583 ^@ NM_021615.4(CHST6):c.*984G>C http://identifiers.org/clinvar/327796 ^@ NM_005786.5(TSHZ1):c.111C>T (p.Ser37=) http://identifiers.org/clinvar/318369 ^@ NM_001039.3(SCNN1G):c.*597dupA http://identifiers.org/clinvar/320586 ^@ NM_021615.4(CHST6):c.*794A>C http://identifiers.org/clinvar/318377 ^@ NM_001039.3(SCNN1G):c.*1147A>G http://identifiers.org/clinvar/318573 ^@ NM_001089.2(ABCA3):c.397G>A (p.Val133Met) http://identifiers.org/clinvar/327799 ^@ NM_005786.5(TSHZ1):c.240C>T (p.Ser80=) http://identifiers.org/clinvar/327802 ^@ NM_005786.5(TSHZ1):c.368C>T (p.Thr123Ile) http://identifiers.org/clinvar/318576 ^@ NM_001089.2(ABCA3):c.160G>A (p.Ala54Thr) http://identifiers.org/clinvar/318578 ^@ NM_001089.2(ABCA3):c.75G>A (p.Thr25=) http://identifiers.org/clinvar/327804 ^@ NM_005786.5(TSHZ1):c.409A>G (p.Ser137Gly) http://identifiers.org/clinvar/318579 ^@ NM_001089.2(ABCA3):c.-27+10T>A http://identifiers.org/clinvar/327814 ^@ NM_005786.5(TSHZ1):c.1027C>T (p.Pro343Ser) http://identifiers.org/clinvar/318584 ^@ NM_001089.2(ABCA3):c.-169G>A http://identifiers.org/clinvar/320588 ^@ NM_021615.4(CHST6):c.*712G>A http://identifiers.org/clinvar/318585 ^@ NM_001089.2(ABCA3):c.-173C>T http://identifiers.org/clinvar/320592 ^@ NM_021615.4(CHST6):c.*522G>C http://identifiers.org/clinvar/320593 ^@ NM_021615.4(CHST6):c.*488_*490delAAG http://identifiers.org/clinvar/327815 ^@ NM_005786.5(TSHZ1):c.1029G>A (p.Pro343=) http://identifiers.org/clinvar/327818 ^@ NM_005786.5(TSHZ1):c.1206G>A (p.Ser402=) http://identifiers.org/clinvar/318591 ^@ NM_001089.2(ABCA3):c.-331C>G http://identifiers.org/clinvar/320604 ^@ NM_021615.4(CHST6):c.987C>T (p.Val329=) http://identifiers.org/clinvar/327827 ^@ NM_005786.5(TSHZ1):c.1710C>T (p.Ala570=) http://identifiers.org/clinvar/320605 ^@ NM_021615.4(CHST6):c.918C>T (p.Ile306=) http://identifiers.org/clinvar/320611 ^@ NM_021615.4(CHST6):c.484C>G (p.Arg162Gly) http://identifiers.org/clinvar/327837 ^@ NM_005786.5(TSHZ1):c.2129C>A (p.Thr710Asn) http://identifiers.org/clinvar/318593 ^@ NM_001089.2(ABCA3):c.-368G>A http://identifiers.org/clinvar/327838 ^@ NM_005786.5(TSHZ1):c.2237C>G (p.Pro746Arg) http://identifiers.org/clinvar/318420 ^@ NM_000336.2(SCNN1B):c.282C>T (p.Ala94=) http://identifiers.org/clinvar/327841 ^@ NM_005786.5(TSHZ1):c.2280C>T (p.Asn760=) http://identifiers.org/clinvar/320615 ^@ NM_021615.4(CHST6):c.120C>T (p.Arg40=) http://identifiers.org/clinvar/327842 ^@ NM_005786.5(TSHZ1):c.2283C>T (p.Ser761=) http://identifiers.org/clinvar/320619 ^@ NM_021615.4(CHST6):c.-115C>G http://identifiers.org/clinvar/320624 ^@ NM_001130089.1(KARS):c.1866C>T (p.Gly622=) http://identifiers.org/clinvar/320625 ^@ NM_001130089.1(KARS):c.1809C>T (p.Pro603=) http://identifiers.org/clinvar/318423 ^@ NM_000336.2(SCNN1B):c.561C>T (p.His187=) http://identifiers.org/clinvar/320627 ^@ NM_001130089.1(KARS):c.1779+4C>T http://identifiers.org/clinvar/327844 ^@ NM_005786.5(TSHZ1):c.2361G>T (p.Leu787=) http://identifiers.org/clinvar/320632 ^@ NM_001130089.1(KARS):c.1434G>C (p.Glu478Asp) http://identifiers.org/clinvar/318425 ^@ NM_000336.2(SCNN1B):c.753C>T (p.Phe251=) http://identifiers.org/clinvar/327848 ^@ NM_005786.5(TSHZ1):c.2496C>T (p.Asp832=) http://identifiers.org/clinvar/320641 ^@ NM_001130089.1(KARS):c.-107C>T http://identifiers.org/clinvar/318435 ^@ NM_000336.2(SCNN1B):c.1270+14C>T http://identifiers.org/clinvar/320642 ^@ NM_001130089.1(KARS):c.-108C>T http://identifiers.org/clinvar/318437 ^@ NM_000336.2(SCNN1B):c.1346+8C>T http://identifiers.org/clinvar/327852 ^@ NM_005786.5(TSHZ1):c.2634G>A (p.Pro878=) http://identifiers.org/clinvar/320648 ^@ NM_022041.3(GAN):c.-70C>T http://identifiers.org/clinvar/327856 ^@ NM_005786.5(TSHZ1):c.2938C>T (p.Pro980Ser) http://identifiers.org/clinvar/320659 ^@ NM_022041.3(GAN):c.1665C>G (p.His555Gln) http://identifiers.org/clinvar/327858 ^@ NM_005786.5(TSHZ1):c.3045C>T (p.His1015=) http://identifiers.org/clinvar/320661 ^@ NM_022041.3(GAN):c.1777C>T (p.Arg593Cys) http://identifiers.org/clinvar/318442 ^@ NM_000336.2(SCNN1B):c.1686A>G (p.Leu562=) http://identifiers.org/clinvar/318456 ^@ NM_153603.3(COG7):c.*277delC http://identifiers.org/clinvar/327860 ^@ NM_005786.5(TSHZ1):c.*148A>G http://identifiers.org/clinvar/318457 ^@ NM_153603.3(COG7):c.*193G>A http://identifiers.org/clinvar/327864 ^@ NM_005786.5(TSHZ1):c.*482A>C http://identifiers.org/clinvar/318459 ^@ NM_153603.3(COG7):c.*47C>T http://identifiers.org/clinvar/327870 ^@ NM_005786.5(TSHZ1):c.*1212A>G http://identifiers.org/clinvar/320663 ^@ NM_022041.3(GAN):c.*45T>C http://identifiers.org/clinvar/327871 ^@ NM_021074.4(NDUFV2):c.-98G>T http://identifiers.org/clinvar/327878 ^@ NM_021074.4(NDUFV2):c.415C>A (p.Pro139Thr) http://identifiers.org/clinvar/320672 ^@ NM_022041.3(GAN):c.*372G>A http://identifiers.org/clinvar/318460 ^@ NM_153603.3(COG7):c.*30C>G http://identifiers.org/clinvar/318466 ^@ NM_153603.3(COG7):c.1890C>A (p.Ile630=) http://identifiers.org/clinvar/320677 ^@ NM_022041.3(GAN):c.*551C>T http://identifiers.org/clinvar/320678 ^@ NM_022041.3(GAN):c.*592T>A http://identifiers.org/clinvar/320679 ^@ NM_022041.3(GAN):c.*764G>A http://identifiers.org/clinvar/318468 ^@ NM_153603.3(COG7):c.1804-13G>A http://identifiers.org/clinvar/318597 ^@ NM_001089.2(ABCA3):c.-539+9C>A http://identifiers.org/clinvar/320681 ^@ NM_022041.3(GAN):c.*816T>C http://identifiers.org/clinvar/327883 ^@ NM_001130823.2(DNMT1):c.*126A>G http://identifiers.org/clinvar/320690 ^@ NM_022041.3(GAN):c.*1336G>A http://identifiers.org/clinvar/320691 ^@ NM_022041.3(GAN):c.*1368T>C http://identifiers.org/clinvar/320692 ^@ NM_022041.3(GAN):c.*1388A>G http://identifiers.org/clinvar/320703 ^@ NM_022041.3(GAN):c.*1908A>C http://identifiers.org/clinvar/320705 ^@ NM_022041.3(GAN):c.*2019A>G http://identifiers.org/clinvar/327884 ^@ NM_001130823.2(DNMT1):c.*18C>T http://identifiers.org/clinvar/320714 ^@ NM_022041.3(GAN):c.*2457T>C http://identifiers.org/clinvar/320715 ^@ NM_022041.3(GAN):c.*2485A>G http://identifiers.org/clinvar/318599 ^@ NM_001089.2(ABCA3):c.-569C>T http://identifiers.org/clinvar/320718 ^@ NM_022041.3(GAN):c.*2584A>G http://identifiers.org/clinvar/327886 ^@ NM_001130823.2(DNMT1):c.4894G>C (p.Asp1632His) http://identifiers.org/clinvar/318600 ^@ NM_001089.2(ABCA3):c.-577G>A http://identifiers.org/clinvar/327890 ^@ NM_001130823.2(DNMT1):c.3948+4G>A http://identifiers.org/clinvar/320719 ^@ NM_012213.2(MLYCD):c.-11T>C http://identifiers.org/clinvar/318478 ^@ NM_153603.3(COG7):c.1137+11A>C http://identifiers.org/clinvar/318479 ^@ NM_153603.3(COG7):c.1005C>T (p.His335=) http://identifiers.org/clinvar/318486 ^@ NM_153603.3(COG7):c.406G>A (p.Ala136Thr) http://identifiers.org/clinvar/320722 ^@ NM_012213.2(MLYCD):c.178A>G (p.Thr60Ala) http://identifiers.org/clinvar/327892 ^@ NM_001130823.2(DNMT1):c.3696C>T (p.Asp1232=) http://identifiers.org/clinvar/318490 ^@ NM_153603.3(COG7):c.241T>G (p.Ser81Ala) http://identifiers.org/clinvar/320729 ^@ NM_012213.2(MLYCD):c.787A>G (p.Ser263Gly) http://identifiers.org/clinvar/320734 ^@ NM_012213.2(MLYCD):c.1203G>A (p.Leu401=) http://identifiers.org/clinvar/318491 ^@ NM_153603.3(COG7):c.170-4A>G http://identifiers.org/clinvar/318494 ^@ NM_153603.3(COG7):c.86C>T (p.Ala29Val) http://identifiers.org/clinvar/320735 ^@ NM_012213.2(MLYCD):c.1328G>C (p.Gly443Ala) http://identifiers.org/clinvar/320739 ^@ NM_012213.2(MLYCD):c.1433A>G (p.Glu478Gly) http://identifiers.org/clinvar/320742 ^@ NM_012213.2(MLYCD):c.*42C>T http://identifiers.org/clinvar/327893 ^@ NM_001130823.2(DNMT1):c.3413C>G (p.Ser1138Cys) http://identifiers.org/clinvar/320747 ^@ NM_012213.2(MLYCD):c.*218C>A http://identifiers.org/clinvar/327897 ^@ NM_001130823.2(DNMT1):c.3343C>T (p.Pro1115Ser) http://identifiers.org/clinvar/320755 ^@ NM_012213.2(MLYCD):c.*504C>A http://identifiers.org/clinvar/327901 ^@ NM_001130823.2(DNMT1):c.2463C>T (p.Leu821=) http://identifiers.org/clinvar/318495 ^@ NM_153603.3(COG7):c.75C>G (p.Ser25=) http://identifiers.org/clinvar/327909 ^@ NM_001130823.2(DNMT1):c.1861A>C (p.Arg621=) http://identifiers.org/clinvar/318509 ^@ NM_001083614.1(EARS2):c.*2193A>G http://identifiers.org/clinvar/318517 ^@ NM_001083614.1(EARS2):c.*1498A>G http://identifiers.org/clinvar/320758 ^@ NM_012213.2(MLYCD):c.*671C>T http://identifiers.org/clinvar/318518 ^@ NM_001083614.1(EARS2):c.*1443C>G http://identifiers.org/clinvar/320759 ^@ NM_178452.5(DNAAF1):c.-172G>A http://identifiers.org/clinvar/318519 ^@ NM_001083614.1(EARS2):c.*1435C>A http://identifiers.org/clinvar/320760 ^@ NM_178452.5(DNAAF1):c.-146G>C http://identifiers.org/clinvar/327910 ^@ NM_001130823.2(DNMT1):c.1500C>T (p.Ala500=) http://identifiers.org/clinvar/318520 ^@ NM_001083614.1(EARS2):c.*1408A>G http://identifiers.org/clinvar/327913 ^@ NM_001130823.2(DNMT1):c.1044-8dupT http://identifiers.org/clinvar/318521 ^@ NM_001083614.1(EARS2):c.*1388C>T http://identifiers.org/clinvar/320764 ^@ NM_178452.5(DNAAF1):c.-83dupT http://identifiers.org/clinvar/320766 ^@ NM_178452.5(DNAAF1):c.285A>T (p.Lys95Asn) http://identifiers.org/clinvar/318523 ^@ NM_001083614.1(EARS2):c.*1233C>T http://identifiers.org/clinvar/318526 ^@ NM_001083614.1(EARS2):c.*1048delA http://identifiers.org/clinvar/320767 ^@ NM_178452.5(DNAAF1):c.312T>G (p.Ile104Met) http://identifiers.org/clinvar/327921 ^@ NM_001130823.2(DNMT1):c.633A>G (p.Glu211=) http://identifiers.org/clinvar/320771 ^@ NM_178452.5(DNAAF1):c.1083C>T (p.Gly361=) http://identifiers.org/clinvar/327931 ^@ NM_003331.4(TYK2):c.*302C>T http://identifiers.org/clinvar/318531 ^@ NM_001083614.1(EARS2):c.*535dupA http://identifiers.org/clinvar/320772 ^@ NM_178452.5(DNAAF1):c.1173G>A (p.Pro391=) http://identifiers.org/clinvar/318534 ^@ NM_001083614.1(EARS2):c.*400A>G http://identifiers.org/clinvar/320775 ^@ NM_178452.5(DNAAF1):c.1528+13G>A http://identifiers.org/clinvar/327934 ^@ NM_003331.4(TYK2):c.3239A>G (p.Tyr1080Cys) http://identifiers.org/clinvar/327935 ^@ NM_003331.4(TYK2):c.2985C>T (p.Ile995=) http://identifiers.org/clinvar/318535 ^@ NM_001083614.1(EARS2):c.*385_*386delGA http://identifiers.org/clinvar/320779 ^@ NM_178452.5(DNAAF1):c.1838C>A (p.Thr613Asn) http://identifiers.org/clinvar/327940 ^@ NM_003331.4(TYK2):c.2441C>T (p.Pro814Leu) http://identifiers.org/clinvar/327941 ^@ NM_003331.4(TYK2):c.2124G>A (p.Met708Ile) http://identifiers.org/clinvar/318545 ^@ NM_001083614.1(EARS2):c.1317G>A (p.Ser439=) http://identifiers.org/clinvar/327942 ^@ NM_003331.4(TYK2):c.2107C>T (p.Arg703Trp) http://identifiers.org/clinvar/318547 ^@ NM_001083614.1(EARS2):c.1071G>A (p.Leu357=) http://identifiers.org/clinvar/318552 ^@ NM_001083614.1(EARS2):c.667G>A (p.Asp223Asn) http://identifiers.org/clinvar/320782 ^@ NM_178452.5(DNAAF1):c.*16T>C http://identifiers.org/clinvar/320785 ^@ NM_001451.2(FOXF1):c.-4C>T http://identifiers.org/clinvar/318554 ^@ NM_001083614.1(EARS2):c.558G>A (p.Ala186=) http://identifiers.org/clinvar/327946 ^@ NM_003331.4(TYK2):c.1807G>A (p.Val603Met) http://identifiers.org/clinvar/327948 ^@ NM_003331.4(TYK2):c.1559G>A (p.Gly520Asp) http://identifiers.org/clinvar/318555 ^@ NM_001083614.1(EARS2):c.351A>G (p.Gln117=) http://identifiers.org/clinvar/320790 ^@ NM_001451.2(FOXF1):c.476A>G (p.Asn159Ser) http://identifiers.org/clinvar/327951 ^@ NM_003331.4(TYK2):c.1000A>G (p.Asn334Asp) http://identifiers.org/clinvar/327957 ^@ NM_003331.4(TYK2):c.602C>T (p.Pro201Leu) http://identifiers.org/clinvar/318557 ^@ NM_001083614.1(EARS2):c.-19G>A http://identifiers.org/clinvar/327964 ^@ NM_003331.4(TYK2):c.-23C>T http://identifiers.org/clinvar/318562 ^@ NM_024675.3(PALB2):c.-149G>A http://identifiers.org/clinvar/327965 ^@ NM_003331.4(TYK2):c.-132T>C http://identifiers.org/clinvar/320804 ^@ NM_001451.2(FOXF1):c.*310_*311insT http://identifiers.org/clinvar/320806 ^@ NM_001451.2(FOXF1):c.*345delC http://identifiers.org/clinvar/327967 ^@ NM_003331.4(TYK2):c.-328T>G http://identifiers.org/clinvar/318610 ^@ NM_020705.2(TBC1D24):c.-3G>A http://identifiers.org/clinvar/327969 ^@ NM_003331.4(TYK2):c.-378A>G http://identifiers.org/clinvar/327987 ^@ NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) http://identifiers.org/clinvar/327993 ^@ NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn) http://identifiers.org/clinvar/320810 ^@ NM_001451.2(FOXF1):c.*471_*472dupTT http://identifiers.org/clinvar/320812 ^@ NM_001451.2(FOXF1):c.*493G>A http://identifiers.org/clinvar/320813 ^@ NM_001451.2(FOXF1):c.*571C>T http://identifiers.org/clinvar/327996 ^@ NM_001005360.2(DNM2):c.*29dupG http://identifiers.org/clinvar/318611 ^@ NM_020705.2(TBC1D24):c.145G>A (p.Ala49Thr) http://identifiers.org/clinvar/318612 ^@ NM_020705.2(TBC1D24):c.151C>T (p.Arg51Trp) http://identifiers.org/clinvar/328002 ^@ NM_001005360.2(DNM2):c.*88C>G http://identifiers.org/clinvar/318617 ^@ NM_020705.2(TBC1D24):c.1108G>A (p.Gly370Arg) http://identifiers.org/clinvar/318624 ^@ NM_020705.2(TBC1D24):c.*134C>T http://identifiers.org/clinvar/318627 ^@ NM_020705.2(TBC1D24):c.*387T>C http://identifiers.org/clinvar/318628 ^@ NM_020705.2(TBC1D24):c.*389C>A http://identifiers.org/clinvar/328006 ^@ NM_001005360.2(DNM2):c.*312dupG http://identifiers.org/clinvar/320823 ^@ NM_001451.2(FOXF1):c.*855C>T http://identifiers.org/clinvar/320824 ^@ NM_001451.2(FOXF1):c.*873G>A http://identifiers.org/clinvar/320827 ^@ NM_001451.2(FOXF1):c.*1095C>T http://identifiers.org/clinvar/318633 ^@ NM_020705.2(TBC1D24):c.*669G>A http://identifiers.org/clinvar/320829 ^@ NM_001451.2(FOXF1):c.*1147T>C http://identifiers.org/clinvar/318636 ^@ NM_020705.2(TBC1D24):c.*826C>T http://identifiers.org/clinvar/320830 ^@ NM_001451.2(FOXF1):c.*1176delT http://identifiers.org/clinvar/320833 ^@ NM_001451.2(FOXF1):c.*1212G>A http://identifiers.org/clinvar/318649 ^@ NM_020705.2(TBC1D24):c.*1726G>A http://identifiers.org/clinvar/320837 ^@ NM_020686.5(ABAT):c.-107G>A http://identifiers.org/clinvar/318655 ^@ NM_020705.2(TBC1D24):c.*1898A>T http://identifiers.org/clinvar/320839 ^@ NM_020686.5(ABAT):c.26G>A (p.Arg9His) http://identifiers.org/clinvar/318658 ^@ NM_020705.2(TBC1D24):c.*1995C>T http://identifiers.org/clinvar/328008 ^@ NM_001005360.2(DNM2):c.*386G>C http://identifiers.org/clinvar/318667 ^@ NM_020705.2(TBC1D24):c.*2754C>T http://identifiers.org/clinvar/328010 ^@ NM_001005360.2(DNM2):c.*453C>T http://identifiers.org/clinvar/320844 ^@ NM_020686.5(ABAT):c.267C>T (p.Asp89=) http://identifiers.org/clinvar/318673 ^@ NM_020705.2(TBC1D24):c.*2850_*2851delCC http://identifiers.org/clinvar/321068 ^@ NM_020686.5(ABAT):c.317-5C>G http://identifiers.org/clinvar/321070 ^@ NM_020686.5(ABAT):c.419T>C (p.Val140Ala) http://identifiers.org/clinvar/318671 ^@ NM_020705.2(TBC1D24):c.*2851dupC http://identifiers.org/clinvar/321074 ^@ NM_020686.5(ABAT):c.540+30_540+35dupCACACA http://identifiers.org/clinvar/328011 ^@ NM_001005360.2(DNM2):c.*550G>A http://identifiers.org/clinvar/321076 ^@ NM_020686.5(ABAT):c.561G>C (p.Arg187Ser) http://identifiers.org/clinvar/318677 ^@ NM_020705.2(TBC1D24):c.*2910A>T http://identifiers.org/clinvar/321077 ^@ NM_020686.5(ABAT):c.645C>A (p.Gly215=) http://identifiers.org/clinvar/321079 ^@ NM_020686.5(ABAT):c.708C>T (p.Ile236=) http://identifiers.org/clinvar/318678 ^@ NM_020705.2(TBC1D24):c.*2971A>G http://identifiers.org/clinvar/318679 ^@ NM_020705.2(TBC1D24):c.*2985T>C http://identifiers.org/clinvar/321083 ^@ NM_020686.5(ABAT):c.1054G>A (p.Val352Met) http://identifiers.org/clinvar/328015 ^@ NM_001128849.1(SMARCA4):c.-72C>T http://identifiers.org/clinvar/328018 ^@ NM_001128849.1(SMARCA4):c.147G>A (p.Pro49=) http://identifiers.org/clinvar/318681 ^@ NM_020705.2(TBC1D24):c.*3242C>T http://identifiers.org/clinvar/318682 ^@ NM_020705.2(TBC1D24):c.*3309T>C http://identifiers.org/clinvar/318684 ^@ NM_020705.2(TBC1D24):c.*3408C>T http://identifiers.org/clinvar/318685 ^@ NM_020705.2(TBC1D24):c.*3478dupT http://identifiers.org/clinvar/328019 ^@ NM_001128849.1(SMARCA4):c.222+14T>C http://identifiers.org/clinvar/318686 ^@ NM_020705.2(TBC1D24):c.*3491C>T http://identifiers.org/clinvar/321085 ^@ NM_020686.5(ABAT):c.1147C>T (p.Leu383=) http://identifiers.org/clinvar/318688 ^@ NM_020705.2(TBC1D24):c.*3594G>A http://identifiers.org/clinvar/318690 ^@ NM_020705.2(TBC1D24):c.*3675A>G http://identifiers.org/clinvar/321087 ^@ NM_020686.5(ABAT):c.1269+4A>C http://identifiers.org/clinvar/321090 ^@ NM_020686.5(ABAT):c.1381+9T>C http://identifiers.org/clinvar/318695 ^@ NM_020705.2(TBC1D24):c.*3757A>G http://identifiers.org/clinvar/328022 ^@ NM_001128849.1(SMARCA4):c.968C>T (p.Ser323Leu) http://identifiers.org/clinvar/321091 ^@ NM_020686.5(ABAT):c.1452C>T (p.His484=) http://identifiers.org/clinvar/328024 ^@ NM_001128849.1(SMARCA4):c.1119-12C>T http://identifiers.org/clinvar/318698 ^@ NM_020705.2(TBC1D24):c.*3909C>T http://identifiers.org/clinvar/328027 ^@ NM_001128849.1(SMARCA4):c.2085C>T (p.Ser695=) http://identifiers.org/clinvar/318701 ^@ NM_020705.2(TBC1D24):c.*4115A>G http://identifiers.org/clinvar/328028 ^@ NM_001128849.1(SMARCA4):c.2123+12C>T http://identifiers.org/clinvar/321093 ^@ NM_020686.5(ABAT):c.*165A>T http://identifiers.org/clinvar/318706 ^@ NM_020705.2(TBC1D24):c.*4479C>T http://identifiers.org/clinvar/321094 ^@ NM_020686.5(ABAT):c.*242G>T http://identifiers.org/clinvar/318713 ^@ NM_001042432.1(CLN3):c.*78G>A http://identifiers.org/clinvar/328032 ^@ NM_001128849.1(SMARCA4):c.2973+14G>A http://identifiers.org/clinvar/328034 ^@ NM_001128849.1(SMARCA4):c.3669C>T (p.Asn1223=) http://identifiers.org/clinvar/318721 ^@ NM_001042432.1(CLN3):c.761T>C (p.Ile254Thr) http://identifiers.org/clinvar/318724 ^@ NM_001042432.1(CLN3):c.436C>T (p.His146Tyr) http://identifiers.org/clinvar/328035 ^@ NM_001128849.1(SMARCA4):c.3775-12A>G http://identifiers.org/clinvar/321096 ^@ NM_020686.5(ABAT):c.*258G>C http://identifiers.org/clinvar/321098 ^@ NM_020686.5(ABAT):c.*298C>T http://identifiers.org/clinvar/321100 ^@ NM_020686.5(ABAT):c.*430C>T http://identifiers.org/clinvar/328037 ^@ NM_001128849.1(SMARCA4):c.4256G>A (p.Arg1419His) http://identifiers.org/clinvar/328038 ^@ NM_001128849.1(SMARCA4):c.4267-13A>G http://identifiers.org/clinvar/318726 ^@ NM_001042432.1(CLN3):c.308C>T (p.Ala103Val) http://identifiers.org/clinvar/321110 ^@ NM_020686.5(ABAT):c.*1110A>C http://identifiers.org/clinvar/318733 ^@ NM_003321.4(TUFM):c.*517G>C http://identifiers.org/clinvar/318734 ^@ NM_003321.4(TUFM):c.*445G>A http://identifiers.org/clinvar/328045 ^@ NM_001128849.1(SMARCA4):c.*327T>C http://identifiers.org/clinvar/328052 ^@ NM_000527.4(LDLR):c.1988-13T>G http://identifiers.org/clinvar/321111 ^@ NM_020686.5(ABAT):c.*1131G>A http://identifiers.org/clinvar/318739 ^@ NM_003321.4(TUFM):c.*149G>C http://identifiers.org/clinvar/328053 ^@ NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) http://identifiers.org/clinvar/318750 ^@ NM_003321.4(TUFM):c.684+8C>T http://identifiers.org/clinvar/328056 ^@ NM_000527.4(LDLR):c.*141G>A http://identifiers.org/clinvar/318752 ^@ NM_003321.4(TUFM):c.520-13C>G http://identifiers.org/clinvar/318760 ^@ NM_003321.4(TUFM):c.-55T>C http://identifiers.org/clinvar/318764 ^@ NM_173201.3(ATP2A1):c.-22C>T http://identifiers.org/clinvar/318774 ^@ NM_173201.3(ATP2A1):c.1208G>A (p.Arg403Gln) http://identifiers.org/clinvar/321113 ^@ NM_020686.5(ABAT):c.*1142G>T http://identifiers.org/clinvar/321115 ^@ NM_020686.5(ABAT):c.*1210T>C http://identifiers.org/clinvar/321118 ^@ NM_020686.5(ABAT):c.*1405C>T http://identifiers.org/clinvar/328060 ^@ NM_000527.4(LDLR):c.*372C>A http://identifiers.org/clinvar/328062 ^@ NM_000527.4(LDLR):c.*420C>A http://identifiers.org/clinvar/321127 ^@ NM_020686.5(ABAT):c.*1704G>C http://identifiers.org/clinvar/318787 ^@ NM_173201.3(ATP2A1):c.2524+3G>T http://identifiers.org/clinvar/328063 ^@ NM_000527.4(LDLR):c.*503C>T http://identifiers.org/clinvar/321128 ^@ NM_020686.5(ABAT):c.*1773_*1776delTTCA http://identifiers.org/clinvar/321130 ^@ NM_020686.5(ABAT):c.*1819G>A http://identifiers.org/clinvar/318788 ^@ NM_173201.3(ATP2A1):c.2560T>C (p.Trp854Arg) http://identifiers.org/clinvar/318791 ^@ NM_173201.3(ATP2A1):c.*111A>G http://identifiers.org/clinvar/328066 ^@ NM_000527.4(LDLR):c.*563G>T http://identifiers.org/clinvar/321131 ^@ NM_020686.5(ABAT):c.*1826C>T http://identifiers.org/clinvar/328067 ^@ NM_000527.4(LDLR):c.*579G>T http://identifiers.org/clinvar/321134 ^@ NM_020686.5(ABAT):c.*1933T>C http://identifiers.org/clinvar/321144 ^@ NM_020686.5(ABAT):c.*2545C>T http://identifiers.org/clinvar/321145 ^@ NM_020686.5(ABAT):c.*2567C>G http://identifiers.org/clinvar/321151 ^@ NM_020686.5(ABAT):c.*3020A>G http://identifiers.org/clinvar/328068 ^@ NM_000527.4(LDLR):c.*584G>T http://identifiers.org/clinvar/318792 ^@ NM_173201.3(ATP2A1):c.*140G>C http://identifiers.org/clinvar/318795 ^@ NM_001770.5(CD19):c.-16G>A http://identifiers.org/clinvar/321152 ^@ NM_020686.5(ABAT):c.*3039delA http://identifiers.org/clinvar/328073 ^@ NM_000527.4(LDLR):c.*784C>T http://identifiers.org/clinvar/321210 ^@ NM_000303.2(PMM2):c.-34C>T http://identifiers.org/clinvar/328085 ^@ NM_000527.4(LDLR):c.*1153G>A http://identifiers.org/clinvar/321215 ^@ NM_000303.2(PMM2):c.110A>T (p.Gln37Leu) http://identifiers.org/clinvar/321220 ^@ NM_000303.2(PMM2):c.597C>T (p.Asp199=) http://identifiers.org/clinvar/318798 ^@ NM_001770.5(CD19):c.381G>A (p.Ser127=) http://identifiers.org/clinvar/328090 ^@ NM_000527.4(LDLR):c.*1256C>T http://identifiers.org/clinvar/318802 ^@ NM_001770.5(CD19):c.406C>T (p.Leu136=) http://identifiers.org/clinvar/320851 ^@ NM_001127464.2(ZNF469):c.376A>G (p.Ser126Gly) http://identifiers.org/clinvar/320853 ^@ NM_001127464.2(ZNF469):c.470G>A (p.Gly157Glu) http://identifiers.org/clinvar/318804 ^@ NM_001770.5(CD19):c.527C>T (p.Pro176Leu) http://identifiers.org/clinvar/318807 ^@ NM_001770.5(CD19):c.1204G>A (p.Glu402Lys) http://identifiers.org/clinvar/318811 ^@ NM_001770.5(CD19):c.1541G>A (p.Arg514His) http://identifiers.org/clinvar/320854 ^@ NM_001127464.2(ZNF469):c.609C>A (p.Pro203=) http://identifiers.org/clinvar/318814 ^@ NM_001770.5(CD19):c.*11G>A http://identifiers.org/clinvar/318822 ^@ NM_001770.5(CD19):c.*151G>A http://identifiers.org/clinvar/320856 ^@ NM_001127464.2(ZNF469):c.699C>T (p.Asp233=) http://identifiers.org/clinvar/320857 ^@ NM_001127464.2(ZNF469):c.725G>T (p.Ser242Ile) http://identifiers.org/clinvar/328094 ^@ NM_000527.4(LDLR):c.*1332G>A http://identifiers.org/clinvar/318824 ^@ NM_000034.3(ALDOA):c.57C>T (p.Ile19=) http://identifiers.org/clinvar/320859 ^@ NM_001127464.2(ZNF469):c.942G>A (p.Pro314=) http://identifiers.org/clinvar/328095 ^@ NM_000527.4(LDLR):c.*1336C>G http://identifiers.org/clinvar/318827 ^@ NM_000034.3(ALDOA):c.113-5C>T http://identifiers.org/clinvar/318830 ^@ NM_000034.3(ALDOA):c.275G>A (p.Arg92His) http://identifiers.org/clinvar/320864 ^@ NM_001127464.2(ZNF469):c.1489G>A (p.Gly497Arg) http://identifiers.org/clinvar/318831 ^@ NM_000034.3(ALDOA):c.379+17delT http://identifiers.org/clinvar/320865 ^@ NM_001127464.2(ZNF469):c.1528G>A (p.Gly510Ser) http://identifiers.org/clinvar/328103 ^@ NM_000527.4(LDLR):c.*1510T>C http://identifiers.org/clinvar/318832 ^@ NM_000034.3(ALDOA):c.477C>G (p.Pro159=) http://identifiers.org/clinvar/318833 ^@ NM_000034.3(ALDOA):c.497A>G (p.Glu166Gly) http://identifiers.org/clinvar/318844 ^@ NM_000034.3(ALDOA):c.*101G>A http://identifiers.org/clinvar/318847 ^@ NM_006662.2(SRCAP):c.-266A>G http://identifiers.org/clinvar/328109 ^@ NM_000527.4(LDLR):c.*1793A>C http://identifiers.org/clinvar/320869 ^@ NM_001127464.2(ZNF469):c.1615A>T (p.Ser539Cys) http://identifiers.org/clinvar/318848 ^@ NM_006662.2(SRCAP):c.-142C>A http://identifiers.org/clinvar/318854 ^@ NM_006662.2(SRCAP):c.306+4C>T http://identifiers.org/clinvar/328115 ^@ NM_000527.4(LDLR):c.*1931A>G http://identifiers.org/clinvar/318855 ^@ NM_006662.2(SRCAP):c.307-7T>C http://identifiers.org/clinvar/328116 ^@ NM_000527.4(LDLR):c.*1960C>T http://identifiers.org/clinvar/320881 ^@ NM_001127464.2(ZNF469):c.2085C>T (p.Pro695=) http://identifiers.org/clinvar/328122 ^@ NM_000527.4(LDLR):c.*2210_*2211delTA http://identifiers.org/clinvar/318866 ^@ NM_006662.2(SRCAP):c.2300+10dupG http://identifiers.org/clinvar/328125 ^@ NM_000527.4(LDLR):c.*2251G>C http://identifiers.org/clinvar/318869 ^@ NM_006662.2(SRCAP):c.2897G>A (p.Arg966Gln) http://identifiers.org/clinvar/318870 ^@ NM_006662.2(SRCAP):c.2903G>A (p.Arg968His) http://identifiers.org/clinvar/328126 ^@ NM_000527.4(LDLR):c.*2319C>G http://identifiers.org/clinvar/318883 ^@ NM_006662.2(SRCAP):c.4940C>T (p.Pro1647Leu) http://identifiers.org/clinvar/318884 ^@ NM_006662.2(SRCAP):c.5006C>T (p.Pro1669Leu) http://identifiers.org/clinvar/318885 ^@ NM_006662.2(SRCAP):c.5278G>C (p.Val1760Leu) http://identifiers.org/clinvar/318890 ^@ NM_006662.2(SRCAP):c.6495-8C>A http://identifiers.org/clinvar/320882 ^@ NM_001127464.2(ZNF469):c.2130T>C (p.Pro710=) http://identifiers.org/clinvar/320886 ^@ NM_001127464.2(ZNF469):c.2407G>T (p.Ala803Ser) http://identifiers.org/clinvar/328136 ^@ NM_000121.3(EPOR):c.*186_*187dupTT http://identifiers.org/clinvar/318892 ^@ NM_006662.2(SRCAP):c.6924+14C>G http://identifiers.org/clinvar/320887 ^@ NM_001127464.2(ZNF469):c.2574G>C (p.Pro858=) http://identifiers.org/clinvar/318902 ^@ NM_006662.2(SRCAP):c.8397A>G (p.Pro2799=) http://identifiers.org/clinvar/320895 ^@ NM_001127464.2(ZNF469):c.2913C>A (p.Gly971=) http://identifiers.org/clinvar/318909 ^@ NM_006662.2(SRCAP):c.8851C>G (p.Pro2951Ala) http://identifiers.org/clinvar/320894 ^@ NM_001127464.2(ZNF469):c.2914_2919delGGCGGC (p.Gly972_Gly973del) http://identifiers.org/clinvar/320905 ^@ NM_001127464.2(ZNF469):c.3237G>A (p.Arg1079=) http://identifiers.org/clinvar/328140 ^@ NM_000121.3(EPOR):c.1427C>T (p.Ala476Val) http://identifiers.org/clinvar/320906 ^@ NM_001127464.2(ZNF469):c.3242C>T (p.Pro1081Leu) http://identifiers.org/clinvar/328141 ^@ NM_000121.3(EPOR):c.1398T>C (p.Thr466=) http://identifiers.org/clinvar/328147 ^@ NM_000121.3(EPOR):c.864C>T (p.Ser288=) http://identifiers.org/clinvar/318914 ^@ NM_006662.2(SRCAP):c.8982C>G (p.Thr2994=) http://identifiers.org/clinvar/328149 ^@ NM_000121.3(EPOR):c.596T>C (p.Leu199Pro) http://identifiers.org/clinvar/318916 ^@ NM_006662.2(SRCAP):c.9122G>A (p.Arg3041Gln) http://identifiers.org/clinvar/318918 ^@ NM_006662.2(SRCAP):c.9229C>A (p.Arg3077=) http://identifiers.org/clinvar/320916 ^@ NM_001127464.2(ZNF469):c.4111C>T (p.His1371Tyr) http://identifiers.org/clinvar/318921 ^@ NM_006662.2(SRCAP):c.9487C>G (p.Leu3163Val) http://identifiers.org/clinvar/328155 ^@ NM_000121.3(EPOR):c.137G>A (p.Gly46Glu) http://identifiers.org/clinvar/318924 ^@ NM_006662.2(SRCAP):c.*243C>T http://identifiers.org/clinvar/320922 ^@ NM_001127464.2(ZNF469):c.4322A>G (p.Tyr1441Cys) http://identifiers.org/clinvar/328157 ^@ NM_000121.3(EPOR):c.24C>T (p.Leu8=) http://identifiers.org/clinvar/328158 ^@ NM_000121.3(EPOR):c.-8G>T http://identifiers.org/clinvar/328160 ^@ NM_000121.3(EPOR):c.-133T>G http://identifiers.org/clinvar/328168 ^@ NM_002743.3(PRKCSH):c.-105T>C http://identifiers.org/clinvar/328174 ^@ NM_002743.3(PRKCSH):c.454C>T (p.Arg152Trp) http://identifiers.org/clinvar/318928 ^@ NM_000294.2(PHKG2):c.-106G>A http://identifiers.org/clinvar/328176 ^@ NM_002743.3(PRKCSH):c.628G>A (p.Glu210Lys) http://identifiers.org/clinvar/328177 ^@ NM_002743.3(PRKCSH):c.690G>A (p.Ser230=) http://identifiers.org/clinvar/328178 ^@ NM_002743.3(PRKCSH):c.702G>A (p.Leu234=) http://identifiers.org/clinvar/320923 ^@ NM_001127464.2(ZNF469):c.4350C>T (p.Ser1450=) http://identifiers.org/clinvar/328179 ^@ NM_002743.3(PRKCSH):c.751G>T (p.Ala251Ser) http://identifiers.org/clinvar/318929 ^@ NM_000294.2(PHKG2):c.-70C>T http://identifiers.org/clinvar/318932 ^@ NM_000294.2(PHKG2):c.83A>T (p.Asp28Val) http://identifiers.org/clinvar/320928 ^@ NM_001127464.2(ZNF469):c.4694C>T (p.Ser1565Leu) http://identifiers.org/clinvar/320933 ^@ NM_001127464.2(ZNF469):c.4825C>T (p.Arg1609Trp) http://identifiers.org/clinvar/328180 ^@ NM_002743.3(PRKCSH):c.752C>T (p.Ala251Val) http://identifiers.org/clinvar/318934 ^@ NM_000294.2(PHKG2):c.271+14C>T http://identifiers.org/clinvar/320934 ^@ NM_001127464.2(ZNF469):c.4842G>A (p.Ser1614=) http://identifiers.org/clinvar/318936 ^@ NM_000294.2(PHKG2):c.324C>T (p.Asp108=) http://identifiers.org/clinvar/328190 ^@ NM_002743.3(PRKCSH):c.1176-14G>A http://identifiers.org/clinvar/320942 ^@ NM_001127464.2(ZNF469):c.5493G>A (p.Pro1831=) http://identifiers.org/clinvar/328192 ^@ NM_002743.3(PRKCSH):c.1239C>T (p.Ser413=) http://identifiers.org/clinvar/318950 ^@ NM_000294.2(PHKG2):c.*2578G>A http://identifiers.org/clinvar/328195 ^@ NM_002743.3(PRKCSH):c.1371C>T (p.His457=) http://identifiers.org/clinvar/320945 ^@ NM_001127464.2(ZNF469):c.5623C>T (p.Arg1875Cys) http://identifiers.org/clinvar/318953 ^@ NM_001330.3(CTF1):c.108C>T (p.Leu36=) http://identifiers.org/clinvar/328196 ^@ NM_002743.3(PRKCSH):c.1515G>A (p.Glu505=) http://identifiers.org/clinvar/318964 ^@ NM_001330.3(CTF1):c.*479T>G http://identifiers.org/clinvar/328197 ^@ NM_002743.3(PRKCSH):c.1569C>T (p.Asp523=) http://identifiers.org/clinvar/318966 ^@ NM_001330.3(CTF1):c.*535C>T http://identifiers.org/clinvar/320957 ^@ NM_001127464.2(ZNF469):c.6468G>T (p.Thr2156=) http://identifiers.org/clinvar/328199 ^@ NM_002743.3(PRKCSH):c.*150C>T http://identifiers.org/clinvar/318981 ^@ NM_004960.3(FUS):c.-49G>T http://identifiers.org/clinvar/328200 ^@ NM_002743.3(PRKCSH):c.*181G>A http://identifiers.org/clinvar/318982 ^@ NM_004960.3(FUS):c.-39A>G http://identifiers.org/clinvar/320958 ^@ NM_001127464.2(ZNF469):c.6581T>C (p.Leu2194Pro) http://identifiers.org/clinvar/318989 ^@ NM_004960.3(FUS):c.951G>A (p.Thr317=) http://identifiers.org/clinvar/318992 ^@ NM_004960.3(FUS):c.1292+22dupT http://identifiers.org/clinvar/319002 ^@ NM_004960.3(FUS):c.*626G>A http://identifiers.org/clinvar/328206 ^@ NM_000455.4(STK11):c.-723G>T http://identifiers.org/clinvar/320960 ^@ NM_001127464.2(ZNF469):c.6695A>G (p.Lys2232Arg) http://identifiers.org/clinvar/320961 ^@ NM_001127464.2(ZNF469):c.6762C>T (p.Ala2254=) http://identifiers.org/clinvar/320967 ^@ NM_001127464.2(ZNF469):c.7072G>C (p.Gly2358Arg) http://identifiers.org/clinvar/320969 ^@ NM_001127464.2(ZNF469):c.7111C>T (p.Pro2371Ser) http://identifiers.org/clinvar/319006 ^@ NM_004960.3(FUS):c.*910C>T http://identifiers.org/clinvar/328207 ^@ NM_000455.4(STK11):c.-635delC http://identifiers.org/clinvar/328208 ^@ NM_000455.4(STK11):c.-587G>C http://identifiers.org/clinvar/319008 ^@ NM_004960.3(FUS):c.*989C>T http://identifiers.org/clinvar/319010 ^@ NM_004960.3(FUS):c.*1145_*1146delCA http://identifiers.org/clinvar/328212 ^@ NM_000455.4(STK11):c.-520C>T http://identifiers.org/clinvar/328215 ^@ NM_000455.4(STK11):c.-430C>T http://identifiers.org/clinvar/328216 ^@ NM_000455.4(STK11):c.-387C>T http://identifiers.org/clinvar/328223 ^@ NM_000455.4(STK11):c.-127T>C http://identifiers.org/clinvar/320978 ^@ NM_001127464.2(ZNF469):c.7733A>C (p.Gln2578Pro) http://identifiers.org/clinvar/320983 ^@ NM_001127464.2(ZNF469):c.8037G>A (p.Ala2679=) http://identifiers.org/clinvar/328230 ^@ NM_000455.4(STK11):c.597+21dupG http://identifiers.org/clinvar/320986 ^@ NM_001127464.2(ZNF469):c.8260C>T (p.His2754Tyr) http://identifiers.org/clinvar/328233 ^@ NM_000455.4(STK11):c.*201G>A http://identifiers.org/clinvar/319011 ^@ NM_004960.3(FUS):c.*1148A>T http://identifiers.org/clinvar/319023 ^@ NM_004960.3(FUS):c.*1650C>T http://identifiers.org/clinvar/319027 ^@ NM_004960.3(FUS):c.*1843G>A http://identifiers.org/clinvar/320990 ^@ NM_001127464.2(ZNF469):c.8541G>A (p.Pro2847=) http://identifiers.org/clinvar/319028 ^@ NM_004960.3(FUS):c.*1883T>C http://identifiers.org/clinvar/319032 ^@ NM_004960.3(FUS):c.*1992A>C http://identifiers.org/clinvar/320991 ^@ NM_001127464.2(ZNF469):c.8558G>A (p.Arg2853His) http://identifiers.org/clinvar/320999 ^@ NM_001127464.2(ZNF469):c.8890A>C (p.Met2964Leu) http://identifiers.org/clinvar/328234 ^@ NM_000455.4(STK11):c.*202C>G http://identifiers.org/clinvar/321001 ^@ NM_001127464.2(ZNF469):c.8940C>T (p.Asp2980=) http://identifiers.org/clinvar/319033 ^@ NM_004960.3(FUS):c.*1998T>C http://identifiers.org/clinvar/321002 ^@ NM_001127464.2(ZNF469):c.9090G>A (p.Leu3030=) http://identifiers.org/clinvar/321005 ^@ NM_001127464.2(ZNF469):c.9289C>T (p.Arg3097Cys) http://identifiers.org/clinvar/321010 ^@ NM_001127464.2(ZNF469):c.9810C>T (p.Asp3270=) http://identifiers.org/clinvar/328235 ^@ NM_000455.4(STK11):c.*237C>A http://identifiers.org/clinvar/319034 ^@ NM_004960.3(FUS):c.*2005G>T http://identifiers.org/clinvar/319035 ^@ NM_004960.3(FUS):c.*2259G>C http://identifiers.org/clinvar/321011 ^@ NM_001127464.2(ZNF469):c.9837G>A (p.Thr3279=) http://identifiers.org/clinvar/321015 ^@ NM_001127464.2(ZNF469):c.10247G>T (p.Gly3416Val) http://identifiers.org/clinvar/321016 ^@ NM_001127464.2(ZNF469):c.10488C>T (p.Pro3496=) http://identifiers.org/clinvar/319036 ^@ NM_004960.3(FUS):c.*2299A>C http://identifiers.org/clinvar/319037 ^@ NM_004960.3(FUS):c.*2348G>A http://identifiers.org/clinvar/328242 ^@ NM_000455.4(STK11):c.*494T>A http://identifiers.org/clinvar/328245 ^@ NM_000455.4(STK11):c.*685C>A http://identifiers.org/clinvar/319040 ^@ NM_004960.3(FUS):c.*2393T>A http://identifiers.org/clinvar/319038 ^@ NM_004960.3(FUS):c.*2393dupT http://identifiers.org/clinvar/328249 ^@ NM_000528.3(MAN2B1):c.*100T>G http://identifiers.org/clinvar/328257 ^@ NM_000528.3(MAN2B1):c.2619G>A (p.Pro873=) http://identifiers.org/clinvar/321017 ^@ NM_001127464.2(ZNF469):c.10515C>T (p.Pro3505=) http://identifiers.org/clinvar/321018 ^@ NM_001127464.2(ZNF469):c.10624G>A (p.Ala3542Thr) http://identifiers.org/clinvar/328259 ^@ NM_000528.3(MAN2B1):c.2558C>T (p.Ala853Val) http://identifiers.org/clinvar/319042 ^@ NM_004960.3(FUS):c.*2459_*2461dupTCA http://identifiers.org/clinvar/319053 ^@ NM_003041.3(SLC5A2):c.26C>T (p.Ser9Leu) http://identifiers.org/clinvar/319056 ^@ NM_003041.3(SLC5A2):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/319057 ^@ NM_003041.3(SLC5A2):c.704G>A (p.Gly235Glu) http://identifiers.org/clinvar/328279 ^@ NM_000528.3(MAN2B1):c.630+12G>C http://identifiers.org/clinvar/328280 ^@ NM_000528.3(MAN2B1):c.597C>T (p.Gly199=) http://identifiers.org/clinvar/321035 ^@ NM_001127464.2(ZNF469):c.*8G>A http://identifiers.org/clinvar/321041 ^@ NM_001127464.2(ZNF469):c.*420G>A http://identifiers.org/clinvar/319063 ^@ NM_003041.3(SLC5A2):c.1307T>C (p.Val436Ala) http://identifiers.org/clinvar/319068 ^@ NM_003041.3(SLC5A2):c.1594G>A (p.Val532Met) http://identifiers.org/clinvar/321042 ^@ NM_001127464.2(ZNF469):c.*421G>T http://identifiers.org/clinvar/319070 ^@ NM_003041.3(SLC5A2):c.1626C>G (p.Leu542=) http://identifiers.org/clinvar/319077 ^@ NM_003041.3(SLC5A2):c.1885A>G (p.Thr629Ala) http://identifiers.org/clinvar/321047 ^@ NM_001127464.2(ZNF469):c.*578_*604dup27 http://identifiers.org/clinvar/321051 ^@ NM_001127464.2(ZNF469):c.*618T>G http://identifiers.org/clinvar/321056 ^@ NM_001127464.2(ZNF469):c.*788G>A http://identifiers.org/clinvar/319082 ^@ NM_003041.3(SLC5A2):c.1933G>A (p.Glu645Lys) http://identifiers.org/clinvar/319087 ^@ NM_000243.2(MEFV):c.*1029G>C http://identifiers.org/clinvar/328281 ^@ NM_000528.3(MAN2B1):c.418C>T (p.Arg140Ter) http://identifiers.org/clinvar/321057 ^@ NM_001127464.2(ZNF469):c.*792A>G http://identifiers.org/clinvar/319094 ^@ NM_000243.2(MEFV):c.*701G>A http://identifiers.org/clinvar/328283 ^@ NM_000528.3(MAN2B1):c.135C>T (p.Ala45=) http://identifiers.org/clinvar/319095 ^@ NM_000243.2(MEFV):c.*679C>G http://identifiers.org/clinvar/328290 ^@ NM_006397.2(RNASEH2A):c.568G>A (p.Val190Met) http://identifiers.org/clinvar/321065 ^@ NM_001127464.2(ZNF469):c.*1071A>T http://identifiers.org/clinvar/321221 ^@ NM_000303.2(PMM2):c.640-12G>A http://identifiers.org/clinvar/321233 ^@ NM_000303.2(PMM2):c.*275A>T http://identifiers.org/clinvar/328304 ^@ NM_006563.4(KLF1):c.*367C>G http://identifiers.org/clinvar/328305 ^@ NM_006563.4(KLF1):c.*311A>G http://identifiers.org/clinvar/321243 ^@ NM_000303.2(PMM2):c.*560A>G http://identifiers.org/clinvar/328315 ^@ NM_006563.4(KLF1):c.606G>A (p.Gly202=) http://identifiers.org/clinvar/321244 ^@ NM_000303.2(PMM2):c.*588G>A http://identifiers.org/clinvar/328327 ^@ NM_000159.3(GCDH):c.-49G>A http://identifiers.org/clinvar/321246 ^@ NM_000303.2(PMM2):c.*674G>A http://identifiers.org/clinvar/319102 ^@ NM_000243.2(MEFV):c.*403A>C http://identifiers.org/clinvar/319106 ^@ NM_000243.2(MEFV):c.*74C>T http://identifiers.org/clinvar/321247 ^@ NM_000303.2(PMM2):c.*733C>T http://identifiers.org/clinvar/319107 ^@ NM_000243.2(MEFV):c.*19C>T http://identifiers.org/clinvar/321257 ^@ NM_000303.2(PMM2):c.*1032C>G http://identifiers.org/clinvar/319108 ^@ NM_000243.2(MEFV):c.1803T>A (p.Ile601=) http://identifiers.org/clinvar/319118 ^@ NM_000243.2(MEFV):c.277G>C (p.Glu93Gln) http://identifiers.org/clinvar/328329 ^@ NM_000159.3(GCDH):c.471C>T (p.Ser157=) http://identifiers.org/clinvar/321258 ^@ NM_000303.2(PMM2):c.*1063C>T http://identifiers.org/clinvar/319119 ^@ NM_000243.2(MEFV):c.66G>A (p.Glu22=) http://identifiers.org/clinvar/321265 ^@ NM_000303.2(PMM2):c.*1224C>A http://identifiers.org/clinvar/328330 ^@ NM_000159.3(GCDH):c.759G>A (p.Lys253=) http://identifiers.org/clinvar/321268 ^@ NM_000303.2(PMM2):c.*1297C>A http://identifiers.org/clinvar/321161 ^@ NM_000485.2(APRT):c.*47T>C http://identifiers.org/clinvar/319124 ^@ NM_032444.2(SLX4):c.*1004A>G http://identifiers.org/clinvar/328333 ^@ NM_000159.3(GCDH):c.1210G>A (p.Ala404Thr) http://identifiers.org/clinvar/328335 ^@ NM_000159.3(GCDH):c.*101G>A http://identifiers.org/clinvar/321164 ^@ NM_000485.2(APRT):c.216C>A (p.Gly72=) http://identifiers.org/clinvar/321166 ^@ NM_000485.2(APRT):c.97C>T (p.Leu33=) http://identifiers.org/clinvar/321178 ^@ NM_000512.4(GALNS):c.*287T>C http://identifiers.org/clinvar/319125 ^@ NM_032444.2(SLX4):c.*984C>T http://identifiers.org/clinvar/319126 ^@ NM_032444.2(SLX4):c.*957C>T http://identifiers.org/clinvar/319129 ^@ NM_032444.2(SLX4):c.*807G>A http://identifiers.org/clinvar/319130 ^@ NM_032444.2(SLX4):c.*721T>C http://identifiers.org/clinvar/328342 ^@ NM_024407.4(NDUFS7):c.*8G>A http://identifiers.org/clinvar/328344 ^@ NM_000156.5(GAMT):c.*276C>T http://identifiers.org/clinvar/321179 ^@ NM_000512.4(GALNS):c.*263T>C http://identifiers.org/clinvar/328348 ^@ NM_000156.5(GAMT):c.396C>A (p.Ile132=) http://identifiers.org/clinvar/321181 ^@ NM_000512.4(GALNS):c.*224C>G http://identifiers.org/clinvar/328355 ^@ NM_000156.5(GAMT):c.-78C>T http://identifiers.org/clinvar/321182 ^@ NM_000512.4(GALNS):c.*207G>T http://identifiers.org/clinvar/328361 ^@ NM_000435.2(NOTCH3):c.*668G>T http://identifiers.org/clinvar/321183 ^@ NM_000512.4(GALNS):c.*145C>T http://identifiers.org/clinvar/328362 ^@ NM_000435.2(NOTCH3):c.*608C>T http://identifiers.org/clinvar/319131 ^@ NM_032444.2(SLX4):c.*658T>C http://identifiers.org/clinvar/328371 ^@ NM_000435.2(NOTCH3):c.6611C>T (p.Pro2204Leu) http://identifiers.org/clinvar/328375 ^@ NM_000435.2(NOTCH3):c.6111C>T (p.His2037=) http://identifiers.org/clinvar/319145 ^@ NM_032444.2(SLX4):c.5042C>T (p.Ser1681Leu) http://identifiers.org/clinvar/321184 ^@ NM_000512.4(GALNS):c.*123G>C http://identifiers.org/clinvar/328380 ^@ NM_000435.2(NOTCH3):c.5570G>A (p.Arg1857Gln) http://identifiers.org/clinvar/321185 ^@ NM_000512.4(GALNS):c.*95T>A http://identifiers.org/clinvar/321187 ^@ NM_000512.4(GALNS):c.*3C>G http://identifiers.org/clinvar/319147 ^@ NM_032444.2(SLX4):c.4918G>C (p.Gly1640Arg) http://identifiers.org/clinvar/319148 ^@ NM_032444.2(SLX4):c.4889C>A (p.Ala1630Asp) http://identifiers.org/clinvar/328381 ^@ NM_000435.2(NOTCH3):c.5501G>A (p.Arg1834Gln) http://identifiers.org/clinvar/319153 ^@ NM_032444.2(SLX4):c.4347G>A (p.Leu1449=) http://identifiers.org/clinvar/328384 ^@ NM_000435.2(NOTCH3):c.4725C>A (p.Pro1575=) http://identifiers.org/clinvar/321195 ^@ NM_000512.4(GALNS):c.1071G>A (p.Pro357=) http://identifiers.org/clinvar/328387 ^@ NM_000435.2(NOTCH3):c.4426G>A (p.Ala1476Thr) http://identifiers.org/clinvar/321198 ^@ NM_000512.4(GALNS):c.1001A>G (p.Gln334Arg) http://identifiers.org/clinvar/328391 ^@ NM_000435.2(NOTCH3):c.3921G>C (p.Thr1307=) http://identifiers.org/clinvar/321201 ^@ NM_000512.4(GALNS):c.633+13G>C http://identifiers.org/clinvar/319158 ^@ NM_032444.2(SLX4):c.3118C>T (p.Pro1040Ser) http://identifiers.org/clinvar/321204 ^@ NM_000512.4(GALNS):c.499T>G (p.Phe167Val) http://identifiers.org/clinvar/321206 ^@ NM_000512.4(GALNS):c.400G>A (p.Val134Ile) http://identifiers.org/clinvar/319160 ^@ NM_032444.2(SLX4):c.3062G>C (p.Arg1021Pro) http://identifiers.org/clinvar/319162 ^@ NM_032444.2(SLX4):c.2975G>A (p.Gly992Glu) http://identifiers.org/clinvar/321207 ^@ NM_000512.4(GALNS):c.240G>A (p.Ser80=) http://identifiers.org/clinvar/321211 ^@ NM_000512.4(GALNS):c.53G>C (p.Ser18Thr) http://identifiers.org/clinvar/321212 ^@ NM_000512.4(GALNS):c.-10C>G http://identifiers.org/clinvar/328394 ^@ NM_000435.2(NOTCH3):c.3659G>A (p.Arg1220Gln) http://identifiers.org/clinvar/321214 ^@ NM_000512.4(GALNS):c.-68C>T http://identifiers.org/clinvar/328405 ^@ NM_000435.2(NOTCH3):c.2580C>T (p.Asn860=) http://identifiers.org/clinvar/319164 ^@ NM_032444.2(SLX4):c.2681T>G (p.Val894Gly) http://identifiers.org/clinvar/328410 ^@ NM_000435.2(NOTCH3):c.1620G>T (p.Thr540=) http://identifiers.org/clinvar/321277 ^@ NM_003119.3(SPG7):c.308C>A (p.Thr103Asn) http://identifiers.org/clinvar/319168 ^@ NM_032444.2(SLX4):c.2057A>G (p.Asn686Ser) http://identifiers.org/clinvar/321279 ^@ NM_003119.3(SPG7):c.663G>A (p.Lys221=) http://identifiers.org/clinvar/328412 ^@ NM_000435.2(NOTCH3):c.1192+14C>T http://identifiers.org/clinvar/319169 ^@ NM_032444.2(SLX4):c.2006G>A (p.Arg669His) http://identifiers.org/clinvar/328414 ^@ NM_000435.2(NOTCH3):c.945C>T (p.Ile315=) http://identifiers.org/clinvar/321280 ^@ NM_003119.3(SPG7):c.817C>T (p.Arg273Cys) http://identifiers.org/clinvar/328415 ^@ NM_000435.2(NOTCH3):c.874T>G (p.Phe292Val) http://identifiers.org/clinvar/319174 ^@ NM_032444.2(SLX4):c.1583G>A (p.Ser528Asn) http://identifiers.org/clinvar/328417 ^@ NM_000435.2(NOTCH3):c.660C>T (p.Tyr220=) http://identifiers.org/clinvar/321294 ^@ NM_003119.3(SPG7):c.*362C>T http://identifiers.org/clinvar/328429 ^@ NM_173483.3(CYP4F22):c.447T>C (p.Gly149=) http://identifiers.org/clinvar/319175 ^@ NM_032444.2(SLX4):c.1547C>T (p.Ala516Val) http://identifiers.org/clinvar/319176 ^@ NM_032444.2(SLX4):c.1520G>A (p.Arg507Lys) http://identifiers.org/clinvar/321298 ^@ NM_003119.3(SPG7):c.*524dupA http://identifiers.org/clinvar/319178 ^@ NM_032444.2(SLX4):c.1325G>C (p.Arg442Thr) http://identifiers.org/clinvar/321300 ^@ NM_003119.3(SPG7):c.*592C>T http://identifiers.org/clinvar/328438 ^@ NM_173483.3(CYP4F22):c.862C>A (p.Gln288Lys) http://identifiers.org/clinvar/328440 ^@ NM_173483.3(CYP4F22):c.874G>A (p.Glu292Lys) http://identifiers.org/clinvar/321308 ^@ NM_000135.2(FANCA):c.*819T>C http://identifiers.org/clinvar/319181 ^@ NM_032444.2(SLX4):c.1110T>C (p.Ala370=) http://identifiers.org/clinvar/319185 ^@ NM_032444.2(SLX4):c.561G>T (p.Gln187His) http://identifiers.org/clinvar/328447 ^@ NM_173483.3(CYP4F22):c.1513A>C (p.Lys505Gln) http://identifiers.org/clinvar/328451 ^@ NM_173483.3(CYP4F22):c.*95C>G http://identifiers.org/clinvar/321310 ^@ NM_000135.2(FANCA):c.*679T>G http://identifiers.org/clinvar/319190 ^@ NM_032444.2(SLX4):c.-21G>C http://identifiers.org/clinvar/319198 ^@ NM_032444.2(SLX4):c.-295A>G http://identifiers.org/clinvar/319201 ^@ NM_032444.2(SLX4):c.-381A>G http://identifiers.org/clinvar/319203 ^@ NM_032444.2(SLX4):c.-416G>A http://identifiers.org/clinvar/328452 ^@ NM_173483.3(CYP4F22):c.*183T>G http://identifiers.org/clinvar/321309 ^@ NM_000135.2(FANCA):c.*679delT http://identifiers.org/clinvar/319206 ^@ NM_032444.2(SLX4):c.-603+8G>C http://identifiers.org/clinvar/321311 ^@ NM_000135.2(FANCA):c.*673delA http://identifiers.org/clinvar/321313 ^@ NM_000135.2(FANCA):c.*672delG http://identifiers.org/clinvar/319209 ^@ NM_032575.2(GLIS2):c.210G>A (p.Glu70=) http://identifiers.org/clinvar/319211 ^@ NM_032575.2(GLIS2):c.344C>T (p.Ser115Leu) http://identifiers.org/clinvar/319220 ^@ NM_032575.2(GLIS2):c.1350G>A (p.Ser450=) http://identifiers.org/clinvar/321314 ^@ NM_000135.2(FANCA):c.*654C>T http://identifiers.org/clinvar/321319 ^@ NM_000135.2(FANCA):c.*287G>A http://identifiers.org/clinvar/319227 ^@ NM_032575.2(GLIS2):c.*2C>T http://identifiers.org/clinvar/319228 ^@ NM_032575.2(GLIS2):c.*12G>A http://identifiers.org/clinvar/321324 ^@ NM_000135.2(FANCA):c.*146C>T http://identifiers.org/clinvar/321328 ^@ NM_000135.2(FANCA):c.3999C>T (p.Phe1333=) http://identifiers.org/clinvar/319229 ^@ NM_032575.2(GLIS2):c.*23G>A http://identifiers.org/clinvar/328463 ^@ NM_000215.3(JAK3):c.*1787C>A http://identifiers.org/clinvar/328469 ^@ NM_000215.3(JAK3):c.*1422G>A http://identifiers.org/clinvar/319230 ^@ NM_032575.2(GLIS2):c.*43G>A http://identifiers.org/clinvar/321339 ^@ NM_000135.2(FANCA):c.3348+7G>T http://identifiers.org/clinvar/328472 ^@ NM_000215.3(JAK3):c.*1287A>T http://identifiers.org/clinvar/328473 ^@ NM_000215.3(JAK3):c.*1218C>A http://identifiers.org/clinvar/321340 ^@ NM_000135.2(FANCA):c.3265G>A (p.Val1089Ile) http://identifiers.org/clinvar/321342 ^@ NM_000135.2(FANCA):c.3114C>T (p.Leu1038=) http://identifiers.org/clinvar/319234 ^@ NM_032575.2(GLIS2):c.*278C>T http://identifiers.org/clinvar/319236 ^@ NM_032575.2(GLIS2):c.*399T>G http://identifiers.org/clinvar/321343 ^@ NM_000135.2(FANCA):c.2958C>T (p.Asn986=) http://identifiers.org/clinvar/319238 ^@ NM_032575.2(GLIS2):c.*525C>T http://identifiers.org/clinvar/328478 ^@ NM_000215.3(JAK3):c.*985C>T http://identifiers.org/clinvar/328479 ^@ NM_000215.3(JAK3):c.*974G>A http://identifiers.org/clinvar/321349 ^@ NM_000135.2(FANCA):c.2236G>T (p.Ala746Ser) http://identifiers.org/clinvar/319249 ^@ NM_032575.2(GLIS2):c.*916G>A http://identifiers.org/clinvar/328484 ^@ NM_000215.3(JAK3):c.*653T>A http://identifiers.org/clinvar/319252 ^@ NM_032575.2(GLIS2):c.*1130G>A http://identifiers.org/clinvar/319256 ^@ NM_032575.2(GLIS2):c.*1333C>G http://identifiers.org/clinvar/319258 ^@ NM_032575.2(GLIS2):c.*1583delC http://identifiers.org/clinvar/319262 ^@ NM_032575.2(GLIS2):c.*1791T>C http://identifiers.org/clinvar/328485 ^@ NM_000215.3(JAK3):c.*593C>T http://identifiers.org/clinvar/319265 ^@ NM_032575.2(GLIS2):c.*1988A>G http://identifiers.org/clinvar/321352 ^@ NM_000135.2(FANCA):c.1901-3C>A http://identifiers.org/clinvar/319269 ^@ NM_018206.5(VPS35):c.*401G>A http://identifiers.org/clinvar/328486 ^@ NM_000215.3(JAK3):c.*503G>A http://identifiers.org/clinvar/319271 ^@ NM_018206.5(VPS35):c.*354G>C http://identifiers.org/clinvar/319272 ^@ NM_018206.5(VPS35):c.*346G>A http://identifiers.org/clinvar/319273 ^@ NM_018206.5(VPS35):c.*287_*288insAAC http://identifiers.org/clinvar/319276 ^@ NM_018206.5(VPS35):c.*285_*287dupAAA http://identifiers.org/clinvar/328489 ^@ NM_000215.3(JAK3):c.*340dupT http://identifiers.org/clinvar/321355 ^@ NM_000135.2(FANCA):c.1737C>T (p.Tyr579=) http://identifiers.org/clinvar/319275 ^@ NM_018206.5(VPS35):c.*287dupA http://identifiers.org/clinvar/319277 ^@ NM_018206.5(VPS35):c.*283_*284delCA http://identifiers.org/clinvar/328493 ^@ NM_000215.3(JAK3):c.*224_*227delCTCT http://identifiers.org/clinvar/319279 ^@ NM_018206.5(VPS35):c.*282_*283insAAA http://identifiers.org/clinvar/321360 ^@ NM_000135.2(FANCA):c.1359+10C>T http://identifiers.org/clinvar/328496 ^@ NM_000215.3(JAK3):c.*36G>A http://identifiers.org/clinvar/319281 ^@ NM_018206.5(VPS35):c.*279_*280insCAAA http://identifiers.org/clinvar/321366 ^@ NM_000135.2(FANCA):c.688G>A (p.Val230Ile) http://identifiers.org/clinvar/321369 ^@ NM_000135.2(FANCA):c.577C>G (p.Leu193Val) http://identifiers.org/clinvar/321374 ^@ NM_000135.2(FANCA):c.74T>G (p.Leu25Arg) http://identifiers.org/clinvar/319282 ^@ NM_018206.5(VPS35):c.*278_*279insCAA http://identifiers.org/clinvar/319286 ^@ NM_018206.5(VPS35):c.*275_*276insCAA http://identifiers.org/clinvar/321379 ^@ NM_002386.3(MC1R):c.-1297T>C http://identifiers.org/clinvar/328497 ^@ NM_000215.3(JAK3):c.3183G>T (p.Pro1061=) http://identifiers.org/clinvar/328499 ^@ NM_000215.3(JAK3):c.2761C>T (p.Leu921Phe) http://identifiers.org/clinvar/319294 ^@ NM_018206.5(VPS35):c.851G>A (p.Arg284Gln) http://identifiers.org/clinvar/319298 ^@ NM_018206.5(VPS35):c.-34G>A http://identifiers.org/clinvar/319300 ^@ NM_014321.3(ORC6):c.23G>T (p.Arg8Leu) http://identifiers.org/clinvar/321380 ^@ NM_002386.3(MC1R):c.-1289C>T http://identifiers.org/clinvar/321383 ^@ NM_002386.3(MC1R):c.-1251C>T http://identifiers.org/clinvar/319307 ^@ NM_014321.3(ORC6):c.*232A>T http://identifiers.org/clinvar/328500 ^@ NM_000215.3(JAK3):c.2681-11G>T http://identifiers.org/clinvar/321388 ^@ NM_002386.3(MC1R):c.-1142G>A http://identifiers.org/clinvar/328514 ^@ NM_000215.3(JAK3):c.1551T>A (p.Pro517=) http://identifiers.org/clinvar/319310 ^@ NM_014321.3(ORC6):c.*479G>A http://identifiers.org/clinvar/321394 ^@ NM_002386.3(MC1R):c.-928A>G http://identifiers.org/clinvar/328524 ^@ NM_000215.3(JAK3):c.-3C>T http://identifiers.org/clinvar/328528 ^@ NM_000453.2(SLC5A5):c.-107C>A http://identifiers.org/clinvar/328529 ^@ NM_000453.2(SLC5A5):c.-70C>T http://identifiers.org/clinvar/328530 ^@ NM_000453.2(SLC5A5):c.-53C>T http://identifiers.org/clinvar/321396 ^@ NM_002386.3(MC1R):c.-723T>C http://identifiers.org/clinvar/328533 ^@ NM_000453.2(SLC5A5):c.252C>T (p.Gly84=) http://identifiers.org/clinvar/319315 ^@ NM_014321.3(ORC6):c.*594A>G http://identifiers.org/clinvar/328538 ^@ NM_000453.2(SLC5A5):c.1224C>T (p.Leu408=) http://identifiers.org/clinvar/328546 ^@ NM_000453.2(SLC5A5):c.*136C>G http://identifiers.org/clinvar/321404 ^@ NM_002386.3(MC1R):c.-445G>A http://identifiers.org/clinvar/319318 ^@ NM_014321.3(ORC6):c.*598G>A http://identifiers.org/clinvar/321406 ^@ NM_002386.3(MC1R):c.-356A>G http://identifiers.org/clinvar/321409 ^@ NM_002386.3(MC1R):c.-312_-310delGGG http://identifiers.org/clinvar/328555 ^@ NM_000453.2(SLC5A5):c.*263delT http://identifiers.org/clinvar/321411 ^@ NM_002386.3(MC1R):c.-226A>T http://identifiers.org/clinvar/319317 ^@ NM_014321.3(ORC6):c.*619_*630dupGATAGATAGATA http://identifiers.org/clinvar/321412 ^@ NM_002386.3(MC1R):c.-114G>A http://identifiers.org/clinvar/319321 ^@ NM_014321.3(ORC6):c.*627_*630delGATA http://identifiers.org/clinvar/319324 ^@ NM_014321.3(ORC6):c.*640G>A http://identifiers.org/clinvar/328563 ^@ NM_000453.2(SLC5A5):c.*422C>G http://identifiers.org/clinvar/319329 ^@ NM_000293.2(PHKB):c.239A>G (p.Gln80Arg) http://identifiers.org/clinvar/321414 ^@ NM_002386.3(MC1R):c.-101G>T http://identifiers.org/clinvar/319330 ^@ NM_000293.2(PHKB):c.270C>T (p.Cys90=) http://identifiers.org/clinvar/319336 ^@ NM_000293.2(PHKB):c.500A>G (p.Tyr167Cys) http://identifiers.org/clinvar/319339 ^@ NM_000293.2(PHKB):c.714G>A (p.Ser238=) http://identifiers.org/clinvar/319342 ^@ NM_000293.2(PHKB):c.870+10T>A http://identifiers.org/clinvar/328565 ^@ NM_000453.2(SLC5A5):c.*606C>T http://identifiers.org/clinvar/321416 ^@ NM_002386.3(MC1R):c.-32dupC http://identifiers.org/clinvar/319345 ^@ NM_000293.2(PHKB):c.1204+9G>T http://identifiers.org/clinvar/321422 ^@ NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) http://identifiers.org/clinvar/319353 ^@ NM_000293.2(PHKB):c.2136G>A (p.Pro712=) http://identifiers.org/clinvar/328570 ^@ NM_000453.2(SLC5A5):c.*898G>A http://identifiers.org/clinvar/319355 ^@ NM_000293.2(PHKB):c.2278+15C>G http://identifiers.org/clinvar/319358 ^@ NM_000293.2(PHKB):c.2629G>A (p.Gly877Arg) http://identifiers.org/clinvar/328572 ^@ NM_005535.2(IL12RB1):c.*34C>T http://identifiers.org/clinvar/319363 ^@ NM_000293.2(PHKB):c.3144+34dupT http://identifiers.org/clinvar/319381 ^@ NM_000293.2(PHKB):c.*1001delG http://identifiers.org/clinvar/321423 ^@ NM_002386.3(MC1R):c.249G>A (p.Ser83=) http://identifiers.org/clinvar/328573 ^@ NM_005535.2(IL12RB1):c.*30C>T http://identifiers.org/clinvar/321426 ^@ NM_002386.3(MC1R):c.325C>T (p.Arg109Trp) http://identifiers.org/clinvar/319384 ^@ NM_000293.2(PHKB):c.*1311dupA http://identifiers.org/clinvar/321427 ^@ NM_002386.3(MC1R):c.399C>T (p.Cys133=) http://identifiers.org/clinvar/319389 ^@ NM_024589.2(ROGDI):c.*454G>A http://identifiers.org/clinvar/328574 ^@ NM_005535.2(IL12RB1):c.1960G>A (p.Asp654Asn) http://identifiers.org/clinvar/319392 ^@ NM_024589.2(ROGDI):c.*355G>T http://identifiers.org/clinvar/319397 ^@ NM_024589.2(ROGDI):c.*112C>T http://identifiers.org/clinvar/319411 ^@ NM_024589.2(ROGDI):c.-131C>G http://identifiers.org/clinvar/319417 ^@ NM_024589.2(ROGDI):c.-379T>C http://identifiers.org/clinvar/321430 ^@ NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) http://identifiers.org/clinvar/321433 ^@ NM_002386.3(MC1R):c.586T>C (p.Phe196Leu) http://identifiers.org/clinvar/328577 ^@ NM_005535.2(IL12RB1):c.1866C>G (p.Ser622=) http://identifiers.org/clinvar/328580 ^@ NM_005535.2(IL12RB1):c.1461T>C (p.Asp487=) http://identifiers.org/clinvar/321435 ^@ NM_002386.3(MC1R):c.637C>T (p.Arg213Trp) http://identifiers.org/clinvar/328582 ^@ NM_005535.2(IL12RB1):c.1429G>A (p.Val477Ile) http://identifiers.org/clinvar/321437 ^@ NM_002386.3(MC1R):c.652G>A (p.Ala218Thr) http://identifiers.org/clinvar/328597 ^@ NM_005535.2(IL12RB1):c.641A>G (p.Gln214Arg) http://identifiers.org/clinvar/319420 ^@ NM_022162.2(NOD2):c.-58T>C http://identifiers.org/clinvar/328609 ^@ NM_000095.2(COMP):c.2227+8G>A http://identifiers.org/clinvar/321438 ^@ NM_002386.3(MC1R):c.717C>T (p.Gly239=) http://identifiers.org/clinvar/328616 ^@ NM_000095.2(COMP):c.868-4C>T http://identifiers.org/clinvar/319424 ^@ NM_022162.2(NOD2):c.140C>T (p.Ser47Leu) http://identifiers.org/clinvar/328622 ^@ NM_000095.2(COMP):c.468G>T (p.Pro156=) http://identifiers.org/clinvar/319430 ^@ NM_022162.2(NOD2):c.541-3T>C http://identifiers.org/clinvar/321449 ^@ NM_002386.3(MC1R):c.*337A>G http://identifiers.org/clinvar/319437 ^@ NM_022162.2(NOD2):c.828G>A (p.Leu276=) http://identifiers.org/clinvar/328623 ^@ NM_000095.2(COMP):c.410T>C (p.Phe137Ser) http://identifiers.org/clinvar/328633 ^@ NM_003721.3(RFXANK):c.-495C>G http://identifiers.org/clinvar/321459 ^@ NM_000833.4(GRIN2A):c.*9632T>A http://identifiers.org/clinvar/321462 ^@ NM_000833.4(GRIN2A):c.*9278C>T http://identifiers.org/clinvar/328638 ^@ NM_003721.3(RFXANK):c.-229C>T http://identifiers.org/clinvar/319438 ^@ NM_022162.2(NOD2):c.841C>T (p.Leu281Phe) http://identifiers.org/clinvar/319440 ^@ NM_022162.2(NOD2):c.866A>G (p.Asn289Ser) http://identifiers.org/clinvar/321468 ^@ NM_000833.4(GRIN2A):c.*8609C>T http://identifiers.org/clinvar/319442 ^@ NM_022162.2(NOD2):c.1172G>A (p.Arg391His) http://identifiers.org/clinvar/321475 ^@ NM_000833.4(GRIN2A):c.*8156A>G http://identifiers.org/clinvar/319444 ^@ NM_022162.2(NOD2):c.1316G>A (p.Arg439His) http://identifiers.org/clinvar/319446 ^@ NM_022162.2(NOD2):c.1411C>T (p.Arg471Cys) http://identifiers.org/clinvar/319447 ^@ NM_022162.2(NOD2):c.1603C>T (p.Leu535=) http://identifiers.org/clinvar/321476 ^@ NM_000833.4(GRIN2A):c.*8077T>G http://identifiers.org/clinvar/328640 ^@ NM_003721.3(RFXANK):c.144G>C (p.Glu48Asp) http://identifiers.org/clinvar/321477 ^@ NM_000833.4(GRIN2A):c.*7982A>C http://identifiers.org/clinvar/328646 ^@ NM_003721.3(RFXANK):c.635G>A (p.Arg212Gln) http://identifiers.org/clinvar/319452 ^@ NM_022162.2(NOD2):c.1834G>T (p.Ala612Ser) http://identifiers.org/clinvar/319458 ^@ NM_022162.2(NOD2):c.2050C>T (p.Arg684Trp) http://identifiers.org/clinvar/321478 ^@ NM_000833.4(GRIN2A):c.*7898A>G http://identifiers.org/clinvar/321480 ^@ NM_000833.4(GRIN2A):c.*7775C>T http://identifiers.org/clinvar/319463 ^@ NM_022162.2(NOD2):c.2330C>A (p.Thr777Asn) http://identifiers.org/clinvar/328652 ^@ NM_001031726.3(C19orf12):c.*3819T>G http://identifiers.org/clinvar/328662 ^@ NM_001031726.3(C19orf12):c.*3399_*3400insA http://identifiers.org/clinvar/328673 ^@ NM_001031726.3(C19orf12):c.*3026G>C http://identifiers.org/clinvar/321483 ^@ NM_000833.4(GRIN2A):c.*7379A>G http://identifiers.org/clinvar/321487 ^@ NM_000833.4(GRIN2A):c.*7289T>A http://identifiers.org/clinvar/321488 ^@ NM_000833.4(GRIN2A):c.*7278G>T http://identifiers.org/clinvar/321494 ^@ NM_000833.4(GRIN2A):c.*6941C>T http://identifiers.org/clinvar/319464 ^@ NM_022162.2(NOD2):c.2365C>T (p.Leu789Phe) http://identifiers.org/clinvar/321495 ^@ NM_000833.4(GRIN2A):c.*6906T>G http://identifiers.org/clinvar/319465 ^@ NM_022162.2(NOD2):c.2462+10A>C http://identifiers.org/clinvar/319468 ^@ NM_022162.2(NOD2):c.2494A>G (p.Ile832Val) http://identifiers.org/clinvar/321497 ^@ NM_000833.4(GRIN2A):c.*6846C>T http://identifiers.org/clinvar/319469 ^@ NM_022162.2(NOD2):c.2547-11G>T http://identifiers.org/clinvar/319470 ^@ NM_022162.2(NOD2):c.2632C>T (p.Leu878=) http://identifiers.org/clinvar/321500 ^@ NM_000833.4(GRIN2A):c.*6659G>A http://identifiers.org/clinvar/321503 ^@ NM_000833.4(GRIN2A):c.*6599T>C http://identifiers.org/clinvar/328676 ^@ NM_001031726.3(C19orf12):c.*2893G>A http://identifiers.org/clinvar/328691 ^@ NM_001031726.3(C19orf12):c.*1826G>T http://identifiers.org/clinvar/319472 ^@ NM_022162.2(NOD2):c.2712G>A (p.Leu904=) http://identifiers.org/clinvar/321512 ^@ NM_000833.4(GRIN2A):c.*6282T>A http://identifiers.org/clinvar/321517 ^@ NM_000833.4(GRIN2A):c.*5996C>T http://identifiers.org/clinvar/319473 ^@ NM_022162.2(NOD2):c.2740G>A (p.Glu914Lys) http://identifiers.org/clinvar/321519 ^@ NM_000833.4(GRIN2A):c.*5884G>A http://identifiers.org/clinvar/321520 ^@ NM_000833.4(GRIN2A):c.*5818C>T http://identifiers.org/clinvar/321521 ^@ NM_000833.4(GRIN2A):c.*5790delA http://identifiers.org/clinvar/321522 ^@ NM_000833.4(GRIN2A):c.*5776A>T http://identifiers.org/clinvar/321528 ^@ NM_000833.4(GRIN2A):c.*5473G>A http://identifiers.org/clinvar/321531 ^@ NM_000833.4(GRIN2A):c.*5423T>C http://identifiers.org/clinvar/319477 ^@ NM_022162.2(NOD2):c.*186C>G http://identifiers.org/clinvar/321533 ^@ NM_000833.4(GRIN2A):c.*5161C>T http://identifiers.org/clinvar/328693 ^@ NM_001031726.3(C19orf12):c.*1671C>T http://identifiers.org/clinvar/321537 ^@ NM_000833.4(GRIN2A):c.*5045T>A http://identifiers.org/clinvar/319483 ^@ NM_022162.2(NOD2):c.*422C>G http://identifiers.org/clinvar/321540 ^@ NM_000833.4(GRIN2A):c.*4739T>C http://identifiers.org/clinvar/319486 ^@ NM_022162.2(NOD2):c.*521C>T http://identifiers.org/clinvar/319488 ^@ NM_022162.2(NOD2):c.*873C>T http://identifiers.org/clinvar/319489 ^@ NM_022162.2(NOD2):c.*877C>A http://identifiers.org/clinvar/319490 ^@ NM_022162.2(NOD2):c.*990T>C http://identifiers.org/clinvar/321552 ^@ NM_000833.4(GRIN2A):c.*3341T>C http://identifiers.org/clinvar/328709 ^@ NM_001031726.3(C19orf12):c.*1037A>G http://identifiers.org/clinvar/321553 ^@ NM_000833.4(GRIN2A):c.*3305C>A http://identifiers.org/clinvar/321561 ^@ NM_000833.4(GRIN2A):c.*2775_*2776insA http://identifiers.org/clinvar/319498 ^@ NM_015247.2(CYLD):c.126G>A (p.Pro42=) http://identifiers.org/clinvar/319499 ^@ NM_015247.2(CYLD):c.543C>T (p.Tyr181=) http://identifiers.org/clinvar/328711 ^@ NM_001031726.3(C19orf12):c.*1020delC http://identifiers.org/clinvar/319500 ^@ NM_015247.2(CYLD):c.922+9C>A http://identifiers.org/clinvar/321565 ^@ NM_000833.4(GRIN2A):c.*2617G>C http://identifiers.org/clinvar/328713 ^@ NM_001031726.3(C19orf12):c.*944A>G http://identifiers.org/clinvar/328717 ^@ NM_001031726.3(C19orf12):c.*718G>T http://identifiers.org/clinvar/321567 ^@ NM_000833.4(GRIN2A):c.*2544C>T http://identifiers.org/clinvar/319501 ^@ NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg) http://identifiers.org/clinvar/319505 ^@ NM_015247.2(CYLD):c.2109-10G>A http://identifiers.org/clinvar/321571 ^@ NM_000833.4(GRIN2A):c.*2210A>T http://identifiers.org/clinvar/321576 ^@ NM_000833.4(GRIN2A):c.*1684A>C http://identifiers.org/clinvar/319507 ^@ NM_015247.2(CYLD):c.2319G>A (p.Leu773=) http://identifiers.org/clinvar/328734 ^@ NM_001031726.3(C19orf12):c.-33G>A http://identifiers.org/clinvar/328741 ^@ NM_014270.4(SLC7A9):c.*77T>C http://identifiers.org/clinvar/321579 ^@ NM_000833.4(GRIN2A):c.*1474T>C http://identifiers.org/clinvar/321582 ^@ NM_000833.4(GRIN2A):c.*1385C>A http://identifiers.org/clinvar/321584 ^@ NM_000833.4(GRIN2A):c.*1058T>A http://identifiers.org/clinvar/319508 ^@ NM_015247.2(CYLD):c.2412C>T (p.Asp804=) http://identifiers.org/clinvar/328742 ^@ NM_014270.4(SLC7A9):c.*20C>T http://identifiers.org/clinvar/328743 ^@ NM_014270.4(SLC7A9):c.1403C>T (p.Pro468Leu) http://identifiers.org/clinvar/321591 ^@ NM_000833.4(GRIN2A):c.*545G>C http://identifiers.org/clinvar/321594 ^@ NM_000833.4(GRIN2A):c.*490G>A http://identifiers.org/clinvar/321596 ^@ NM_000833.4(GRIN2A):c.*268G>A http://identifiers.org/clinvar/321598 ^@ NM_000833.4(GRIN2A):c.*39G>A http://identifiers.org/clinvar/328752 ^@ NM_014270.4(SLC7A9):c.780C>T (p.Ile260=) http://identifiers.org/clinvar/328753 ^@ NM_014270.4(SLC7A9):c.723C>T (p.Ile241=) http://identifiers.org/clinvar/319509 ^@ NM_015247.2(CYLD):c.2465C>T (p.Thr822Ile) http://identifiers.org/clinvar/321599 ^@ NM_000833.4(GRIN2A):c.3993C>A (p.Val1331=) http://identifiers.org/clinvar/319511 ^@ NM_015247.2(CYLD):c.*382T>C http://identifiers.org/clinvar/328756 ^@ NM_014270.4(SLC7A9):c.604+10G>A http://identifiers.org/clinvar/321601 ^@ NM_000833.4(GRIN2A):c.3678C>T (p.Gly1226=) http://identifiers.org/clinvar/321610 ^@ NM_000833.4(GRIN2A):c.2497A>G (p.Ile833Val) http://identifiers.org/clinvar/321612 ^@ NM_000833.4(GRIN2A):c.2007+10C>T http://identifiers.org/clinvar/321614 ^@ NM_000833.4(GRIN2A):c.1380C>T (p.Cys460=) http://identifiers.org/clinvar/328761 ^@ NM_014270.4(SLC7A9):c.425T>C (p.Val142Ala) http://identifiers.org/clinvar/321615 ^@ NM_000833.4(GRIN2A):c.1317C>G (p.Phe439Leu) http://identifiers.org/clinvar/321617 ^@ NM_000833.4(GRIN2A):c.1141C>T (p.His381Tyr) http://identifiers.org/clinvar/321619 ^@ NM_002472.2(MYH8):c.*76G>C http://identifiers.org/clinvar/321625 ^@ NM_002472.2(MYH8):c.4994G>A (p.Arg1665Gln) http://identifiers.org/clinvar/328766 ^@ NM_014270.4(SLC7A9):c.228G>C (p.Ala76=) http://identifiers.org/clinvar/328769 ^@ NM_014270.4(SLC7A9):c.-26G>T http://identifiers.org/clinvar/319515 ^@ NM_015247.2(CYLD):c.*779G>A http://identifiers.org/clinvar/328772 ^@ NM_014270.4(SLC7A9):c.-119G>A http://identifiers.org/clinvar/321632 ^@ NM_002472.2(MYH8):c.4249C>G (p.Leu1417Val) http://identifiers.org/clinvar/321633 ^@ NM_002472.2(MYH8):c.4003G>A (p.Ala1335Thr) http://identifiers.org/clinvar/319530 ^@ NM_015247.2(CYLD):c.*1831G>A http://identifiers.org/clinvar/328776 ^@ NM_000285.3(PEPD):c.*333_*337dupACTTT http://identifiers.org/clinvar/319531 ^@ NM_015247.2(CYLD):c.*1983T>C http://identifiers.org/clinvar/328777 ^@ NM_000285.3(PEPD):c.*211T>C http://identifiers.org/clinvar/321634 ^@ NM_002472.2(MYH8):c.3703A>G (p.Ser1235Gly) http://identifiers.org/clinvar/319533 ^@ NM_015247.2(CYLD):c.*2121_*2122delAA http://identifiers.org/clinvar/319532 ^@ NM_015247.2(CYLD):c.*2122delA http://identifiers.org/clinvar/321638 ^@ NM_002472.2(MYH8):c.3340T>C (p.Leu1114=) http://identifiers.org/clinvar/321640 ^@ NM_002472.2(MYH8):c.3254+8C>A http://identifiers.org/clinvar/319535 ^@ NM_015247.2(CYLD):c.*2236C>T http://identifiers.org/clinvar/328778 ^@ NM_000285.3(PEPD):c.*175_*178dupATTA http://identifiers.org/clinvar/328780 ^@ NM_000285.3(PEPD):c.*53C>T http://identifiers.org/clinvar/321645 ^@ NM_002472.2(MYH8):c.1833G>A (p.Leu611=) http://identifiers.org/clinvar/321646 ^@ NM_002472.2(MYH8):c.1731G>C (p.Glu577Asp) http://identifiers.org/clinvar/321648 ^@ NM_002472.2(MYH8):c.1268T>G (p.Val423Gly) http://identifiers.org/clinvar/319537 ^@ NM_015247.2(CYLD):c.*2335T>C http://identifiers.org/clinvar/328788 ^@ NM_000285.3(PEPD):c.1317C>T (p.Val439=) http://identifiers.org/clinvar/321656 ^@ NM_002472.2(MYH8):c.501C>T (p.Phe167=) http://identifiers.org/clinvar/321657 ^@ NM_002472.2(MYH8):c.203G>T (p.Gly68Val) http://identifiers.org/clinvar/328790 ^@ NM_000285.3(PEPD):c.1309C>T (p.Arg437Cys) http://identifiers.org/clinvar/328792 ^@ NM_000285.3(PEPD):c.1292G>A (p.Arg431His) http://identifiers.org/clinvar/319538 ^@ NM_015247.2(CYLD):c.*2369G>A http://identifiers.org/clinvar/328798 ^@ NM_000285.3(PEPD):c.1153-6C>T http://identifiers.org/clinvar/319543 ^@ NM_015247.2(CYLD):c.*2710C>T http://identifiers.org/clinvar/328799 ^@ NM_000285.3(PEPD):c.1131C>T (p.His377=) http://identifiers.org/clinvar/321659 ^@ NM_002472.2(MYH8):c.-31G>A http://identifiers.org/clinvar/319544 ^@ NM_015247.2(CYLD):c.*2856T>C http://identifiers.org/clinvar/321663 ^@ NM_017534.5(MYH2):c.5176-10T>C http://identifiers.org/clinvar/319548 ^@ NM_015247.2(CYLD):c.*3119delT http://identifiers.org/clinvar/328802 ^@ NM_000285.3(PEPD):c.1045G>A (p.Gly349Ser) http://identifiers.org/clinvar/319549 ^@ NM_015247.2(CYLD):c.*3148T>C http://identifiers.org/clinvar/319555 ^@ NM_015247.2(CYLD):c.*3679T>C http://identifiers.org/clinvar/328814 ^@ NM_000285.3(PEPD):c.504-9G>A http://identifiers.org/clinvar/321680 ^@ NM_017534.5(MYH2):c.2725G>T (p.Glu909Ter) http://identifiers.org/clinvar/328820 ^@ NM_000285.3(PEPD):c.427G>A (p.Val143Ile) http://identifiers.org/clinvar/321685 ^@ NM_017534.5(MYH2):c.2331G>T (p.Gly777=) http://identifiers.org/clinvar/328824 ^@ NM_000285.3(PEPD):c.-5C>T http://identifiers.org/clinvar/321686 ^@ NM_017534.5(MYH2):c.2305-11T>G http://identifiers.org/clinvar/328825 ^@ NM_000285.3(PEPD):c.-30C>G http://identifiers.org/clinvar/319562 ^@ NM_015247.2(CYLD):c.*4485G>C http://identifiers.org/clinvar/319569 ^@ NM_015247.2(CYLD):c.*4885A>T http://identifiers.org/clinvar/319583 ^@ NM_002968.2(SALL1):c.*705_*706delAA http://identifiers.org/clinvar/321687 ^@ NM_017534.5(MYH2):c.2181-9C>T http://identifiers.org/clinvar/319588 ^@ NM_002968.2(SALL1):c.*558A>G http://identifiers.org/clinvar/321690 ^@ NM_017534.5(MYH2):c.1444A>C (p.Asn482His) http://identifiers.org/clinvar/319590 ^@ NM_002968.2(SALL1):c.*437C>A http://identifiers.org/clinvar/319592 ^@ NM_002968.2(SALL1):c.*125C>T http://identifiers.org/clinvar/328826 ^@ NM_000285.3(PEPD):c.-38T>C http://identifiers.org/clinvar/328834 ^@ NM_001037.4(SCN1B):c.150C>T (p.Asn50=) http://identifiers.org/clinvar/319596 ^@ NM_002968.2(SALL1):c.3947A>C (p.Glu1316Ala) http://identifiers.org/clinvar/321691 ^@ NM_017534.5(MYH2):c.1416+9G>A http://identifiers.org/clinvar/319597 ^@ NM_002968.2(SALL1):c.3942C>T (p.Phe1314=) http://identifiers.org/clinvar/319609 ^@ NM_002968.2(SALL1):c.1502A>G (p.Glu501Gly) http://identifiers.org/clinvar/319610 ^@ NM_002968.2(SALL1):c.1321A>G (p.Thr441Ala) http://identifiers.org/clinvar/321701 ^@ NM_017534.5(MYH2):c.71G>T (p.Arg24Leu) http://identifiers.org/clinvar/321713 ^@ NM_002470.3(MYH3):c.5562+11C>T http://identifiers.org/clinvar/319612 ^@ NM_002968.2(SALL1):c.676G>A (p.Val226Ile) http://identifiers.org/clinvar/319616 ^@ NM_002968.2(SALL1):c.389C>T (p.Pro130Leu) http://identifiers.org/clinvar/319619 ^@ NM_002968.2(SALL1):c.220G>A (p.Val74Ile) http://identifiers.org/clinvar/328844 ^@ NM_004646.3(NPHS1):c.*958G>T http://identifiers.org/clinvar/328845 ^@ NM_004646.3(NPHS1):c.*759A>T http://identifiers.org/clinvar/319620 ^@ NM_002968.2(SALL1):c.76+10C>G http://identifiers.org/clinvar/319621 ^@ NM_002968.2(SALL1):c.44A>C (p.Asp15Ala) http://identifiers.org/clinvar/319624 ^@ NM_015272.4(RPGRIP1L):c.*1693G>A http://identifiers.org/clinvar/319625 ^@ NM_015272.4(RPGRIP1L):c.*1627G>A http://identifiers.org/clinvar/328846 ^@ NM_004646.3(NPHS1):c.*706A>G http://identifiers.org/clinvar/319628 ^@ NM_015272.4(RPGRIP1L):c.*1309C>A http://identifiers.org/clinvar/321719 ^@ NM_002470.3(MYH3):c.5274G>A (p.Lys1758=) http://identifiers.org/clinvar/321723 ^@ NM_002470.3(MYH3):c.4778G>C (p.Arg1593Thr) http://identifiers.org/clinvar/328847 ^@ NM_004646.3(NPHS1):c.*609G>A http://identifiers.org/clinvar/319630 ^@ NM_015272.4(RPGRIP1L):c.*1035T>C http://identifiers.org/clinvar/328852 ^@ NM_004646.3(NPHS1):c.*82G>T http://identifiers.org/clinvar/321726 ^@ NM_002470.3(MYH3):c.4238C>T (p.Ala1413Val) http://identifiers.org/clinvar/319636 ^@ NM_015272.4(RPGRIP1L):c.*626A>C http://identifiers.org/clinvar/321729 ^@ NM_002470.3(MYH3):c.4082C>T (p.Ala1361Val) http://identifiers.org/clinvar/328855 ^@ NM_004646.3(NPHS1):c.3364G>C (p.Glu1122Gln) http://identifiers.org/clinvar/319638 ^@ NM_015272.4(RPGRIP1L):c.*506T>G http://identifiers.org/clinvar/319641 ^@ NM_015272.4(RPGRIP1L):c.*270G>A http://identifiers.org/clinvar/328862 ^@ NM_004646.3(NPHS1):c.2654A>T (p.Gln885Leu) http://identifiers.org/clinvar/321732 ^@ NM_002470.3(MYH3):c.3729+9C>T http://identifiers.org/clinvar/319644 ^@ NM_015272.4(RPGRIP1L):c.*119C>T http://identifiers.org/clinvar/328864 ^@ NM_004646.3(NPHS1):c.2072C>A (p.Ala691Glu) http://identifiers.org/clinvar/321740 ^@ NM_002470.3(MYH3):c.3439C>A (p.Leu1147Met) http://identifiers.org/clinvar/321745 ^@ NM_002470.3(MYH3):c.2813C>A (p.Thr938Lys) http://identifiers.org/clinvar/328869 ^@ NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) http://identifiers.org/clinvar/328873 ^@ NM_004646.3(NPHS1):c.916G>A (p.Val306Met) http://identifiers.org/clinvar/319652 ^@ NM_015272.4(RPGRIP1L):c.3153G>T (p.Gln1051His) http://identifiers.org/clinvar/321748 ^@ NM_002470.3(MYH3):c.2371G>A (p.Ala791Thr) http://identifiers.org/clinvar/321749 ^@ NM_002470.3(MYH3):c.2289+4A>G http://identifiers.org/clinvar/319655 ^@ NM_015272.4(RPGRIP1L):c.2682A>G (p.Ser894=) http://identifiers.org/clinvar/319664 ^@ NM_015272.4(RPGRIP1L):c.1085A>G (p.Tyr362Cys) http://identifiers.org/clinvar/319668 ^@ NM_015272.4(RPGRIP1L):c.251G>A (p.Arg84Gln) http://identifiers.org/clinvar/328874 ^@ NM_004646.3(NPHS1):c.895C>T (p.Arg299Cys) http://identifiers.org/clinvar/321750 ^@ NM_002470.3(MYH3):c.2175G>A (p.Val725=) http://identifiers.org/clinvar/321753 ^@ NM_002470.3(MYH3):c.1932C>T (p.Ser644=) http://identifiers.org/clinvar/328875 ^@ NM_004646.3(NPHS1):c.733A>C (p.Ile245Leu) http://identifiers.org/clinvar/321754 ^@ NM_002470.3(MYH3):c.1888+10G>A http://identifiers.org/clinvar/319670 ^@ NM_015272.4(RPGRIP1L):c.171G>T (p.Leu57Phe) http://identifiers.org/clinvar/328878 ^@ NM_004646.3(NPHS1):c.485C>G (p.Ser162Cys) http://identifiers.org/clinvar/321760 ^@ NM_002470.3(MYH3):c.1411T>C (p.Tyr471His) http://identifiers.org/clinvar/321761 ^@ NM_002470.3(MYH3):c.1309T>A (p.Phe437Ile) http://identifiers.org/clinvar/319674 ^@ NM_001080432.2(FTO):c.-186C>G http://identifiers.org/clinvar/319677 ^@ NM_001080432.2(FTO):c.18T>C (p.Thr6=) http://identifiers.org/clinvar/328880 ^@ NM_004646.3(NPHS1):c.427G>C (p.Glu143Gln) http://identifiers.org/clinvar/319684 ^@ NM_001080432.2(FTO):c.783T>A (p.His261Gln) http://identifiers.org/clinvar/328890 ^@ NM_003332.3(TYROBP):c.*85C>T http://identifiers.org/clinvar/321763 ^@ NM_002470.3(MYH3):c.1142-3C>G http://identifiers.org/clinvar/328897 ^@ NM_003332.3(TYROBP):c.-34C>T http://identifiers.org/clinvar/321765 ^@ NM_002470.3(MYH3):c.910A>G (p.Ile304Val) http://identifiers.org/clinvar/321767 ^@ NM_002470.3(MYH3):c.736-6A>G http://identifiers.org/clinvar/321768 ^@ NM_002470.3(MYH3):c.642+10G>A http://identifiers.org/clinvar/319685 ^@ NM_001080432.2(FTO):c.959C>T (p.Thr320Ile) http://identifiers.org/clinvar/319691 ^@ NM_001080432.2(FTO):c.*39G>A http://identifiers.org/clinvar/328900 ^@ NM_001042631.2(SDHAF1):c.*156G>T http://identifiers.org/clinvar/321772 ^@ NM_002470.3(MYH3):c.252G>A (p.Lys84=) http://identifiers.org/clinvar/328901 ^@ NM_001042631.2(SDHAF1):c.*329G>C http://identifiers.org/clinvar/321773 ^@ NM_002470.3(MYH3):c.248C>G (p.Pro83Arg) http://identifiers.org/clinvar/319696 ^@ NM_001080432.2(FTO):c.*322T>C http://identifiers.org/clinvar/321786 ^@ NM_004589.3(SCO1):c.*310C>T http://identifiers.org/clinvar/319704 ^@ NM_001080432.2(FTO):c.*1061C>T http://identifiers.org/clinvar/321788 ^@ NM_004589.3(SCO1):c.*272T>C http://identifiers.org/clinvar/319706 ^@ NM_001080432.2(FTO):c.*1082G>A http://identifiers.org/clinvar/321789 ^@ NM_004589.3(SCO1):c.*127A>G http://identifiers.org/clinvar/328904 ^@ NM_001083961.1(WDR62):c.10G>C (p.Val4Leu) http://identifiers.org/clinvar/321790 ^@ NM_004589.3(SCO1):c.*61A>C http://identifiers.org/clinvar/321792 ^@ NM_004589.3(SCO1):c.689C>T (p.Thr230Met) http://identifiers.org/clinvar/319709 ^@ NM_001080432.2(FTO):c.*1331G>A http://identifiers.org/clinvar/319712 ^@ NM_001080432.2(FTO):c.*1403C>T http://identifiers.org/clinvar/321799 ^@ NM_004589.3(SCO1):c.15C>T (p.Val5=) http://identifiers.org/clinvar/319715 ^@ NM_001080432.2(FTO):c.*1704T>C http://identifiers.org/clinvar/319717 ^@ NM_001080432.2(FTO):c.*1745G>A http://identifiers.org/clinvar/321801 ^@ NM_004589.3(SCO1):c.-52delA http://identifiers.org/clinvar/321803 ^@ NM_001303.3(COX10):c.-112G>A http://identifiers.org/clinvar/321811 ^@ NM_001303.3(COX10):c.123G>A (p.Arg41=) http://identifiers.org/clinvar/319720 ^@ NM_001080432.2(FTO):c.*1860A>C http://identifiers.org/clinvar/319724 ^@ NM_001080432.2(FTO):c.*1944G>T http://identifiers.org/clinvar/321812 ^@ NM_001303.3(COX10):c.173G>A (p.Arg58His) http://identifiers.org/clinvar/319729 ^@ NM_001080432.2(FTO):c.*2192G>T http://identifiers.org/clinvar/321815 ^@ NM_001303.3(COX10):c.624+4A>G http://identifiers.org/clinvar/328908 ^@ NM_001083961.1(WDR62):c.820T>G (p.Tyr274Asp) http://identifiers.org/clinvar/319730 ^@ NM_001080432.2(FTO):c.*2210A>G http://identifiers.org/clinvar/328909 ^@ NM_001083961.1(WDR62):c.821A>G (p.Tyr274Cys) http://identifiers.org/clinvar/321818 ^@ NM_001303.3(COX10):c.*13G>A http://identifiers.org/clinvar/319734 ^@ NM_001080432.2(FTO):c.*2334G>A http://identifiers.org/clinvar/328910 ^@ NM_001083961.1(WDR62):c.1064C>T (p.Ala355Val) http://identifiers.org/clinvar/321820 ^@ NM_001303.3(COX10):c.*150_*152delTTT http://identifiers.org/clinvar/328922 ^@ NM_001083961.1(WDR62):c.3220+4G>C http://identifiers.org/clinvar/328925 ^@ NM_001083961.1(WDR62):c.3360G>A (p.Arg1120=) http://identifiers.org/clinvar/319736 ^@ NM_001080432.2(FTO):c.*2401C>T http://identifiers.org/clinvar/319737 ^@ NM_001080432.2(FTO):c.*2412C>G http://identifiers.org/clinvar/328928 ^@ NM_001083961.1(WDR62):c.3724G>A (p.Val1242Met) http://identifiers.org/clinvar/319741 ^@ NM_004530.5(MMP2):c.-201C>G http://identifiers.org/clinvar/319740 ^@ NM_004530.5(MMP2):c.-183_-181dupCGG http://identifiers.org/clinvar/328929 ^@ NM_001083961.1(WDR62):c.3810C>T (p.Thr1270=) http://identifiers.org/clinvar/319743 ^@ NM_004530.5(MMP2):c.-61G>C http://identifiers.org/clinvar/328932 ^@ NM_001083961.1(WDR62):c.4296C>T (p.Leu1432=) http://identifiers.org/clinvar/321819 ^@ NM_001303.3(COX10):c.*151_*152delTT http://identifiers.org/clinvar/328936 ^@ NM_001083961.1(WDR62):c.4464G>A (p.Pro1488=) http://identifiers.org/clinvar/321824 ^@ NM_001303.3(COX10):c.*371A>G http://identifiers.org/clinvar/319751 ^@ NM_004530.5(MMP2):c.750C>T (p.Thr250=) http://identifiers.org/clinvar/328946 ^@ NM_032753.3(RAX2):c.*1145G>A http://identifiers.org/clinvar/321826 ^@ NM_001303.3(COX10):c.*438G>C http://identifiers.org/clinvar/319752 ^@ NM_004530.5(MMP2):c.832+12C>T http://identifiers.org/clinvar/319759 ^@ NM_004530.5(MMP2):c.1337-7T>C http://identifiers.org/clinvar/321834 ^@ NM_001303.3(COX10):c.*757T>C http://identifiers.org/clinvar/319761 ^@ NM_004530.5(MMP2):c.1380G>A (p.Thr460=) http://identifiers.org/clinvar/319776 ^@ NM_004530.5(MMP2):c.*260A>C http://identifiers.org/clinvar/321836 ^@ NM_001303.3(COX10):c.*833_*834delCT http://identifiers.org/clinvar/321837 ^@ NM_001303.3(COX10):c.*974C>A http://identifiers.org/clinvar/319779 ^@ NM_004530.5(MMP2):c.*498A>G http://identifiers.org/clinvar/321839 ^@ NM_001303.3(COX10):c.*1078C>T http://identifiers.org/clinvar/328951 ^@ NM_032753.3(RAX2):c.*902G>T http://identifiers.org/clinvar/321845 ^@ NM_000304.3(PMP22):c.*1120T>C http://identifiers.org/clinvar/321846 ^@ NM_000304.3(PMP22):c.*1111G>T http://identifiers.org/clinvar/319786 ^@ NM_004530.5(MMP2):c.*1062C>T http://identifiers.org/clinvar/328952 ^@ NM_032753.3(RAX2):c.*866C>T http://identifiers.org/clinvar/321849 ^@ NM_000304.3(PMP22):c.*912G>A http://identifiers.org/clinvar/321851 ^@ NM_000304.3(PMP22):c.*577T>C http://identifiers.org/clinvar/328954 ^@ NM_032753.3(RAX2):c.*721_*724delCCAG http://identifiers.org/clinvar/328960 ^@ NM_032753.3(RAX2):c.*477delG http://identifiers.org/clinvar/321853 ^@ NM_000304.3(PMP22):c.*527_*528delCT http://identifiers.org/clinvar/321855 ^@ NM_000304.3(PMP22):c.*228G>A http://identifiers.org/clinvar/328961 ^@ NM_032753.3(RAX2):c.*381A>G http://identifiers.org/clinvar/328964 ^@ NM_032753.3(RAX2):c.*45C>T http://identifiers.org/clinvar/321859 ^@ NM_000304.3(PMP22):c.*59A>C http://identifiers.org/clinvar/321933 ^@ NM_017775.3(TTC19):c.-452G>A http://identifiers.org/clinvar/328969 ^@ NM_032753.3(RAX2):c.156G>A (p.Pro52=) http://identifiers.org/clinvar/328973 ^@ NM_032753.3(RAX2):c.-10+8C>T http://identifiers.org/clinvar/319788 ^@ NM_001043.3(SLC6A2):c.-190A>T http://identifiers.org/clinvar/328975 ^@ NM_032753.3(RAX2):c.-22G>A http://identifiers.org/clinvar/328988 ^@ NM_000540.2(RYR1):c.-70dupC http://identifiers.org/clinvar/319798 ^@ NM_001043.3(SLC6A2):c.856G>A (p.Gly286Arg) http://identifiers.org/clinvar/319801 ^@ NM_001043.3(SLC6A2):c.955T>C (p.Leu319=) http://identifiers.org/clinvar/328992 ^@ NM_000540.2(RYR1):c.537+13G>A http://identifiers.org/clinvar/329008 ^@ NM_000540.2(RYR1):c.3299G>A (p.Arg1100His) http://identifiers.org/clinvar/321945 ^@ NM_017775.3(TTC19):c.421T>G (p.Leu141Val) http://identifiers.org/clinvar/321950 ^@ NM_017775.3(TTC19):c.1056_1058delAGA (p.Lys352_Asp353delinsAsn) http://identifiers.org/clinvar/321957 ^@ NM_017775.3(TTC19):c.*578C>T http://identifiers.org/clinvar/321958 ^@ NM_017775.3(TTC19):c.*600G>A http://identifiers.org/clinvar/321961 ^@ NM_017775.3(TTC19):c.*709T>A http://identifiers.org/clinvar/319802 ^@ NM_001043.3(SLC6A2):c.1148-13A>C http://identifiers.org/clinvar/329012 ^@ NM_000540.2(RYR1):c.3557-6C>T http://identifiers.org/clinvar/319810 ^@ NM_001043.3(SLC6A2):c.1801G>C (p.Val601Leu) http://identifiers.org/clinvar/321962 ^@ NM_017775.3(TTC19):c.*746C>G http://identifiers.org/clinvar/321966 ^@ NM_017775.3(TTC19):c.*1008G>A http://identifiers.org/clinvar/321969 ^@ NM_017775.3(TTC19):c.*1236_*1237dupTT http://identifiers.org/clinvar/329014 ^@ NM_000540.2(RYR1):c.3924G>C (p.Pro1308=) http://identifiers.org/clinvar/319811 ^@ NM_001043.3(SLC6A2):c.1853G>A (p.Ter618=) http://identifiers.org/clinvar/319826 ^@ NM_001043.3(SLC6A2):c.*416C>A http://identifiers.org/clinvar/321977 ^@ NM_017775.3(TTC19):c.*1318A>C http://identifiers.org/clinvar/319832 ^@ NM_001043.3(SLC6A2):c.*851T>A http://identifiers.org/clinvar/319833 ^@ NM_001043.3(SLC6A2):c.*875G>A http://identifiers.org/clinvar/321978 ^@ NM_017775.3(TTC19):c.*1320A>C http://identifiers.org/clinvar/329015 ^@ NM_000540.2(RYR1):c.3981C>G (p.Pro1327=) http://identifiers.org/clinvar/329017 ^@ NM_000540.2(RYR1):c.4122T>A (p.Asn1374Lys) http://identifiers.org/clinvar/319835 ^@ NM_001043.3(SLC6A2):c.*950C>A http://identifiers.org/clinvar/329018 ^@ NM_000540.2(RYR1):c.4160+8G>T http://identifiers.org/clinvar/319837 ^@ NM_001043.3(SLC6A2):c.*1006A>G http://identifiers.org/clinvar/329019 ^@ NM_000540.2(RYR1):c.4182G>T (p.Lys1394Asn) http://identifiers.org/clinvar/319843 ^@ NM_001043.3(SLC6A2):c.*1422G>T http://identifiers.org/clinvar/329022 ^@ NM_000540.2(RYR1):c.4266C>T (p.Asp1422=) http://identifiers.org/clinvar/329023 ^@ NM_000540.2(RYR1):c.4269C>T (p.Pro1423=) http://identifiers.org/clinvar/321982 ^@ NM_017775.3(TTC19):c.*1562A>G http://identifiers.org/clinvar/329030 ^@ NM_000540.2(RYR1):c.4520G>A (p.Arg1507Gln) http://identifiers.org/clinvar/329037 ^@ NM_000540.2(RYR1):c.5438G>T (p.Arg1813Met) http://identifiers.org/clinvar/329038 ^@ NM_000540.2(RYR1):c.5525T>C (p.Leu1842Pro) http://identifiers.org/clinvar/321983 ^@ NM_017775.3(TTC19):c.*1738T>C http://identifiers.org/clinvar/319846 ^@ NM_031885.3(BBS2):c.*316A>G http://identifiers.org/clinvar/329040 ^@ NM_000540.2(RYR1):c.5584A>C (p.Ile1862Leu) http://identifiers.org/clinvar/329041 ^@ NM_000540.2(RYR1):c.5634_5636delGGA (p.Glu1878del) http://identifiers.org/clinvar/319849 ^@ NM_031885.3(BBS2):c.2079G>A (p.Gln693=) http://identifiers.org/clinvar/321987 ^@ NM_004278.3(PIGL):c.420C>T (p.Ile140=) http://identifiers.org/clinvar/329048 ^@ NM_000540.2(RYR1):c.6343G>A (p.Glu2115Lys) http://identifiers.org/clinvar/329049 ^@ NM_000540.2(RYR1):c.6353G>C (p.Arg2118Pro) http://identifiers.org/clinvar/321988 ^@ NM_004278.3(PIGL):c.446G>C (p.Gly149Ala) http://identifiers.org/clinvar/321990 ^@ NM_004278.3(PIGL):c.*20A>G http://identifiers.org/clinvar/329053 ^@ NM_000540.2(RYR1):c.6651C>T (p.Gly2217=) http://identifiers.org/clinvar/329055 ^@ NM_000540.2(RYR1):c.6799A>G (p.Met2267Val) http://identifiers.org/clinvar/319855 ^@ NM_031885.3(BBS2):c.1527+12G>A http://identifiers.org/clinvar/329069 ^@ NM_000540.2(RYR1):c.7842C>T (p.Ile2614=) http://identifiers.org/clinvar/329075 ^@ NM_000540.2(RYR1):c.8079G>A (p.Pro2693=) http://identifiers.org/clinvar/319856 ^@ NM_031885.3(BBS2):c.1486A>G (p.Ile496Val) http://identifiers.org/clinvar/319860 ^@ NM_031885.3(BBS2):c.1104C>T (p.Asn368=) http://identifiers.org/clinvar/329078 ^@ NM_000540.2(RYR1):c.8466G>A (p.Thr2822=) http://identifiers.org/clinvar/329079 ^@ NM_000540.2(RYR1):c.8514A>C (p.Lys2838Asn) http://identifiers.org/clinvar/321992 ^@ NM_004278.3(PIGL):c.*184A>C http://identifiers.org/clinvar/319868 ^@ NM_031885.3(BBS2):c.118-16_118-13delGTTA http://identifiers.org/clinvar/321995 ^@ NM_004278.3(PIGL):c.*324A>G http://identifiers.org/clinvar/321868 ^@ NM_006445.3(PRPF8):c.*11G>T http://identifiers.org/clinvar/319871 ^@ NM_031885.3(BBS2):c.78G>A (p.Gly26=) http://identifiers.org/clinvar/319873 ^@ NM_031885.3(BBS2):c.-22C>T http://identifiers.org/clinvar/319876 ^@ NM_031885.3(BBS2):c.-137C>G http://identifiers.org/clinvar/321875 ^@ NM_006445.3(PRPF8):c.6294G>A (p.Lys2098=) http://identifiers.org/clinvar/321876 ^@ NM_006445.3(PRPF8):c.6247C>T (p.Leu2083=) http://identifiers.org/clinvar/319883 ^@ NM_031885.3(BBS2):c.-191G>T http://identifiers.org/clinvar/319886 ^@ NM_000339.2(SLC12A3):c.-5C>T http://identifiers.org/clinvar/329080 ^@ NM_000540.2(RYR1):c.8550T>C (p.Asp2850=) http://identifiers.org/clinvar/329089 ^@ NM_000540.2(RYR1):c.9555-10C>T http://identifiers.org/clinvar/319887 ^@ NM_000339.2(SLC12A3):c.36C>T (p.Asp12=) http://identifiers.org/clinvar/319897 ^@ NM_000339.2(SLC12A3):c.1229C>A (p.Thr410Asn) http://identifiers.org/clinvar/321880 ^@ NM_006445.3(PRPF8):c.5412C>T (p.Asn1804=) http://identifiers.org/clinvar/329092 ^@ NM_000540.2(RYR1):c.9685+8G>T http://identifiers.org/clinvar/319898 ^@ NM_000339.2(SLC12A3):c.1248C>T (p.Cys416=) http://identifiers.org/clinvar/321883 ^@ NM_006445.3(PRPF8):c.4707G>A (p.Leu1569=) http://identifiers.org/clinvar/321886 ^@ NM_006445.3(PRPF8):c.4011A>G (p.Gln1337=) http://identifiers.org/clinvar/319899 ^@ NM_000339.2(SLC12A3):c.1249G>A (p.Glu417Lys) http://identifiers.org/clinvar/319905 ^@ NM_000339.2(SLC12A3):c.1696A>T (p.Asn566Tyr) http://identifiers.org/clinvar/321887 ^@ NM_006445.3(PRPF8):c.3939G>A (p.Pro1313=) http://identifiers.org/clinvar/319909 ^@ NM_000339.2(SLC12A3):c.1925G>A (p.Arg642His) http://identifiers.org/clinvar/329097 ^@ NM_000540.2(RYR1):c.10260-12C>T http://identifiers.org/clinvar/321888 ^@ NM_006445.3(PRPF8):c.3775-14T>C http://identifiers.org/clinvar/319910 ^@ NM_000339.2(SLC12A3):c.1968G>A (p.Pro656=) http://identifiers.org/clinvar/319915 ^@ NM_000339.2(SLC12A3):c.2517C>T (p.Thr839=) http://identifiers.org/clinvar/329098 ^@ NM_000540.2(RYR1):c.10263G>A (p.Ala3421=) http://identifiers.org/clinvar/319919 ^@ NM_000339.2(SLC12A3):c.2890C>T (p.Arg964Trp) http://identifiers.org/clinvar/321891 ^@ NM_006445.3(PRPF8):c.3657+13C>T http://identifiers.org/clinvar/321894 ^@ NM_006445.3(PRPF8):c.3154G>T (p.Val1052Leu) http://identifiers.org/clinvar/321898 ^@ NM_006445.3(PRPF8):c.2847G>A (p.Pro949=) http://identifiers.org/clinvar/321899 ^@ NM_006445.3(PRPF8):c.2790C>T (p.Ala930=) http://identifiers.org/clinvar/329104 ^@ NM_000540.2(RYR1):c.11193+3G>A http://identifiers.org/clinvar/329106 ^@ NM_000540.2(RYR1):c.11292C>T (p.Tyr3764=) http://identifiers.org/clinvar/319926 ^@ NM_000339.2(SLC12A3):c.*243C>T http://identifiers.org/clinvar/329114 ^@ NM_000540.2(RYR1):c.12219T>A (p.Ser4073=) http://identifiers.org/clinvar/329115 ^@ NM_000540.2(RYR1):c.12619C>A (p.Pro4207Thr) http://identifiers.org/clinvar/319927 ^@ NM_000339.2(SLC12A3):c.*282T>A http://identifiers.org/clinvar/319934 ^@ NM_000339.2(SLC12A3):c.*515_*516insA http://identifiers.org/clinvar/319933 ^@ NM_000339.2(SLC12A3):c.*524delT http://identifiers.org/clinvar/319938 ^@ NM_000339.2(SLC12A3):c.*664G>C http://identifiers.org/clinvar/319940 ^@ NM_000339.2(SLC12A3):c.*752C>T http://identifiers.org/clinvar/319941 ^@ NM_000339.2(SLC12A3):c.*836G>A http://identifiers.org/clinvar/319950 ^@ NM_000339.2(SLC12A3):c.*1323G>C http://identifiers.org/clinvar/319952 ^@ NM_000339.2(SLC12A3):c.*1532G>A http://identifiers.org/clinvar/321901 ^@ NM_006445.3(PRPF8):c.2631G>A (p.Ala877=) http://identifiers.org/clinvar/319953 ^@ NM_000339.2(SLC12A3):c.*1624C>T http://identifiers.org/clinvar/329120 ^@ NM_000540.2(RYR1):c.12888G>C (p.Arg4296=) http://identifiers.org/clinvar/321905 ^@ NM_006445.3(PRPF8):c.2182-3dupT http://identifiers.org/clinvar/319961 ^@ NM_000339.2(SLC12A3):c.*2068C>G http://identifiers.org/clinvar/319967 ^@ NM_000339.2(SLC12A3):c.*2378A>T http://identifiers.org/clinvar/329123 ^@ NM_000540.2(RYR1):c.13128G>A (p.Val4376=) http://identifiers.org/clinvar/329135 ^@ NM_000540.2(RYR1):c.14196C>A (p.Ile4732=) http://identifiers.org/clinvar/321906 ^@ NM_006445.3(PRPF8):c.1914C>G (p.Leu638=) http://identifiers.org/clinvar/328980 ^@ NM_033064.4(ATCAY):c.-398C>A http://identifiers.org/clinvar/321910 ^@ NM_006445.3(PRPF8):c.1290-10A>G http://identifiers.org/clinvar/328982 ^@ NM_033064.4(ATCAY):c.-375G>T http://identifiers.org/clinvar/319970 ^@ NM_000078.2(CETP):c.44C>G (p.Ala15Gly) http://identifiers.org/clinvar/329205 ^@ NM_017827.3(SARS2):c.*341G>C http://identifiers.org/clinvar/319978 ^@ NM_000078.2(CETP):c.460C>T (p.Arg154Trp) http://identifiers.org/clinvar/319984 ^@ NM_000078.2(CETP):c.861C>T (p.Phe287=) http://identifiers.org/clinvar/321911 ^@ NM_006445.3(PRPF8):c.1289+13C>T http://identifiers.org/clinvar/321915 ^@ NM_006445.3(PRPF8):c.891T>C (p.Asn297=) http://identifiers.org/clinvar/319985 ^@ NM_000078.2(CETP):c.940G>A (p.Glu314Lys) http://identifiers.org/clinvar/329208 ^@ NM_017827.3(SARS2):c.*22C>T http://identifiers.org/clinvar/319987 ^@ NM_000078.2(CETP):c.1017C>T (p.Thr339=) http://identifiers.org/clinvar/321917 ^@ NM_006445.3(PRPF8):c.637T>C (p.Leu213=) http://identifiers.org/clinvar/319989 ^@ NM_000078.2(CETP):c.1146+7C>T http://identifiers.org/clinvar/319990 ^@ NM_000078.2(CETP):c.1153G>A (p.Val385Met) http://identifiers.org/clinvar/329220 ^@ NM_017827.3(SARS2):c.535-15G>C http://identifiers.org/clinvar/329224 ^@ NM_017827.3(SARS2):c.321G>A (p.Glu107=) http://identifiers.org/clinvar/321924 ^@ NM_006445.3(PRPF8):c.-22G>C http://identifiers.org/clinvar/321925 ^@ NM_006445.3(PRPF8):c.-24G>A http://identifiers.org/clinvar/321928 ^@ NM_006445.3(PRPF8):c.-43G>C http://identifiers.org/clinvar/319991 ^@ NM_000078.2(CETP):c.1161C>G (p.Thr387=) http://identifiers.org/clinvar/321930 ^@ NM_006445.3(PRPF8):c.-74C>T http://identifiers.org/clinvar/322020 ^@ NM_012452.2(TNFRSF13B):c.*353A>C http://identifiers.org/clinvar/329228 ^@ NM_017827.3(SARS2):c.-19G>T http://identifiers.org/clinvar/329117 ^@ NM_033064.4(ATCAY):c.137-11T>C http://identifiers.org/clinvar/319994 ^@ NM_000078.2(CETP):c.1215-15G>T http://identifiers.org/clinvar/322022 ^@ NM_012452.2(TNFRSF13B):c.*173G>A http://identifiers.org/clinvar/329118 ^@ NM_033064.4(ATCAY):c.162C>T (p.Asn54=) http://identifiers.org/clinvar/329141 ^@ NM_033064.4(ATCAY):c.405G>A (p.Ala135=) http://identifiers.org/clinvar/319996 ^@ NM_000078.2(CETP):c.1299G>A (p.Val433=) http://identifiers.org/clinvar/322023 ^@ NM_012452.2(TNFRSF13B):c.857C>A (p.Ala286Asp) http://identifiers.org/clinvar/329144 ^@ NM_033064.4(ATCAY):c.544+6dupA http://identifiers.org/clinvar/329145 ^@ NM_033064.4(ATCAY):c.544+16dupC http://identifiers.org/clinvar/320004 ^@ NM_020312.3(COQ9):c.73+9delG http://identifiers.org/clinvar/320007 ^@ NM_020312.3(COQ9):c.315G>A (p.Thr105=) http://identifiers.org/clinvar/322024 ^@ NM_012452.2(TNFRSF13B):c.797C>T (p.Thr266Ile) http://identifiers.org/clinvar/322033 ^@ NM_144997.5(FLCN):c.*1403T>C http://identifiers.org/clinvar/320032 ^@ NM_001297.4(CNGB1):c.*967C>T http://identifiers.org/clinvar/320039 ^@ NM_001297.4(CNGB1):c.*820G>A http://identifiers.org/clinvar/329148 ^@ NM_033064.4(ATCAY):c.647+10C>T http://identifiers.org/clinvar/329152 ^@ NM_033064.4(ATCAY):c.866+6A>G http://identifiers.org/clinvar/322038 ^@ NM_144997.5(FLCN):c.*1179T>A http://identifiers.org/clinvar/320040 ^@ NM_001297.4(CNGB1):c.*738_*747delGTGGTTCACA http://identifiers.org/clinvar/329153 ^@ NM_033064.4(ATCAY):c.1074-14T>C http://identifiers.org/clinvar/329156 ^@ NM_033064.4(ATCAY):c.*192_*193delTT http://identifiers.org/clinvar/329163 ^@ NM_033064.4(ATCAY):c.*496C>A http://identifiers.org/clinvar/320041 ^@ NM_001297.4(CNGB1):c.*730C>A http://identifiers.org/clinvar/320042 ^@ NM_001297.4(CNGB1):c.*720A>G http://identifiers.org/clinvar/320044 ^@ NM_001297.4(CNGB1):c.*601G>A http://identifiers.org/clinvar/322042 ^@ NM_144997.5(FLCN):c.*911G>A http://identifiers.org/clinvar/322043 ^@ NM_144997.5(FLCN):c.*887T>C http://identifiers.org/clinvar/320048 ^@ NM_001297.4(CNGB1):c.*244A>G http://identifiers.org/clinvar/322045 ^@ NM_144997.5(FLCN):c.*695_*696delCG http://identifiers.org/clinvar/329165 ^@ NM_033064.4(ATCAY):c.*687C>A http://identifiers.org/clinvar/329166 ^@ NM_033064.4(ATCAY):c.*728T>C http://identifiers.org/clinvar/329168 ^@ NM_033064.4(ATCAY):c.*806A>G http://identifiers.org/clinvar/329169 ^@ NM_033064.4(ATCAY):c.*813G>C http://identifiers.org/clinvar/322046 ^@ NM_144997.5(FLCN):c.*695C>T http://identifiers.org/clinvar/322047 ^@ NM_144997.5(FLCN):c.*634A>C http://identifiers.org/clinvar/322049 ^@ NM_144997.5(FLCN):c.*528G>A http://identifiers.org/clinvar/320050 ^@ NM_001297.4(CNGB1):c.*228T>G http://identifiers.org/clinvar/320054 ^@ NM_001297.4(CNGB1):c.3717G>T (p.Ser1239=) http://identifiers.org/clinvar/322054 ^@ NM_144997.5(FLCN):c.*379G>A http://identifiers.org/clinvar/322055 ^@ NM_144997.5(FLCN):c.*356G>T http://identifiers.org/clinvar/329170 ^@ NM_033064.4(ATCAY):c.*823C>T http://identifiers.org/clinvar/329173 ^@ NM_033064.4(ATCAY):c.*1036G>C http://identifiers.org/clinvar/322056 ^@ NM_144997.5(FLCN):c.*340G>A http://identifiers.org/clinvar/322062 ^@ NM_144997.5(FLCN):c.1428C>G (p.Asp476Glu) http://identifiers.org/clinvar/320065 ^@ NM_001297.4(CNGB1):c.3244C>T (p.Arg1082Cys) http://identifiers.org/clinvar/320066 ^@ NM_001297.4(CNGB1):c.3147C>T (p.His1049=) http://identifiers.org/clinvar/329174 ^@ NM_033064.4(ATCAY):c.*1167G>A http://identifiers.org/clinvar/329175 ^@ NM_033064.4(ATCAY):c.*1180C>T http://identifiers.org/clinvar/320070 ^@ NM_001297.4(CNGB1):c.2853C>A (p.Asp951Glu) http://identifiers.org/clinvar/320073 ^@ NM_001297.4(CNGB1):c.2700G>A (p.Thr900=) http://identifiers.org/clinvar/320074 ^@ NM_001297.4(CNGB1):c.2634+4T>C http://identifiers.org/clinvar/320077 ^@ NM_001297.4(CNGB1):c.2481C>T (p.Gly827=) http://identifiers.org/clinvar/320079 ^@ NM_001297.4(CNGB1):c.2193C>T (p.Asn731=) http://identifiers.org/clinvar/329177 ^@ NM_033064.4(ATCAY):c.*1188G>T http://identifiers.org/clinvar/329179 ^@ NM_033064.4(ATCAY):c.*1235T>C http://identifiers.org/clinvar/322067 ^@ NM_144997.5(FLCN):c.617A>G (p.Lys206Arg) http://identifiers.org/clinvar/322068 ^@ NM_144997.5(FLCN):c.536G>A (p.Arg179Gln) http://identifiers.org/clinvar/322069 ^@ NM_144997.5(FLCN):c.250-7T>C http://identifiers.org/clinvar/329183 ^@ NM_033064.4(ATCAY):c.*1535G>A http://identifiers.org/clinvar/322070 ^@ NM_144997.5(FLCN):c.249+13G>C http://identifiers.org/clinvar/329188 ^@ NM_033064.4(ATCAY):c.*1653G>T http://identifiers.org/clinvar/322071 ^@ NM_144997.5(FLCN):c.-17dupG http://identifiers.org/clinvar/329190 ^@ NM_033064.4(ATCAY):c.*2026G>A http://identifiers.org/clinvar/322075 ^@ NM_144997.5(FLCN):c.-90A>G http://identifiers.org/clinvar/329192 ^@ NM_033064.4(ATCAY):c.*2297C>A http://identifiers.org/clinvar/322078 ^@ NM_144997.5(FLCN):c.-134C>T http://identifiers.org/clinvar/322079 ^@ NM_144997.5(FLCN):c.-141G>T http://identifiers.org/clinvar/322082 ^@ NM_144997.5(FLCN):c.-299C>T http://identifiers.org/clinvar/329193 ^@ NM_033064.4(ATCAY):c.*2311G>A http://identifiers.org/clinvar/329195 ^@ NM_033064.4(ATCAY):c.*2426C>T http://identifiers.org/clinvar/320086 ^@ NM_001297.4(CNGB1):c.1854C>T (p.Ala618=) http://identifiers.org/clinvar/320093 ^@ NM_001297.4(CNGB1):c.1500C>G (p.Thr500=) http://identifiers.org/clinvar/320096 ^@ NM_001297.4(CNGB1):c.1373-11C>A http://identifiers.org/clinvar/320101 ^@ NM_001297.4(CNGB1):c.898G>A (p.Val300Met) http://identifiers.org/clinvar/329200 ^@ NM_033064.4(ATCAY):c.*3108C>T http://identifiers.org/clinvar/329233 ^@ NM_016941.3(DLL3):c.620G>A (p.Cys207Tyr) http://identifiers.org/clinvar/322084 ^@ NM_144997.5(FLCN):c.-431C>T http://identifiers.org/clinvar/329235 ^@ NM_016941.3(DLL3):c.939G>A (p.Gly313=) http://identifiers.org/clinvar/329241 ^@ NM_016941.3(DLL3):c.*77A>G http://identifiers.org/clinvar/322004 ^@ NM_002615.6(SERPINF1):c.395C>G (p.Pro132Arg) http://identifiers.org/clinvar/322007 ^@ NM_002615.6(SERPINF1):c.643+9G>A http://identifiers.org/clinvar/320102 ^@ NM_001297.4(CNGB1):c.802C>T (p.Pro268Ser) http://identifiers.org/clinvar/320104 ^@ NM_001297.4(CNGB1):c.545A>T (p.Asp182Val) http://identifiers.org/clinvar/322010 ^@ NM_002615.6(SERPINF1):c.756C>A (p.Arg252=) http://identifiers.org/clinvar/329250 ^@ NM_181882.2(PRX):c.4044G>C (p.Gly1348=) http://identifiers.org/clinvar/322012 ^@ NM_002615.6(SERPINF1):c.963T>C (p.Tyr321=) http://identifiers.org/clinvar/329259 ^@ NM_181882.2(PRX):c.3218A>G (p.Glu1073Gly) http://identifiers.org/clinvar/322014 ^@ NM_002615.6(SERPINF1):c.1112C>T (p.Thr371Ile) http://identifiers.org/clinvar/320111 ^@ NM_001297.4(CNGB1):c.257G>A (p.Arg86Gln) http://identifiers.org/clinvar/320118 ^@ NM_004614.4(TK2):c.*3763G>T http://identifiers.org/clinvar/322016 ^@ NM_002615.6(SERPINF1):c.1226T>C (p.Ile409Thr) http://identifiers.org/clinvar/329261 ^@ NM_181882.2(PRX):c.2933A>G (p.Lys978Arg) http://identifiers.org/clinvar/329274 ^@ NM_181882.2(PRX):c.1625G>A (p.Arg542Gln) http://identifiers.org/clinvar/320121 ^@ NM_004614.4(TK2):c.*2914C>T http://identifiers.org/clinvar/329279 ^@ NM_181882.2(PRX):c.966G>T (p.Val322=) http://identifiers.org/clinvar/320124 ^@ NM_004614.4(TK2):c.*2450A>G http://identifiers.org/clinvar/329280 ^@ NM_181882.2(PRX):c.960G>A (p.Ser320=) http://identifiers.org/clinvar/320129 ^@ NM_004614.4(TK2):c.*1758_*1759insT http://identifiers.org/clinvar/329285 ^@ NM_181882.2(PRX):c.539C>T (p.Pro180Leu) http://identifiers.org/clinvar/320135 ^@ NM_004614.4(TK2):c.*1738C>T http://identifiers.org/clinvar/320137 ^@ NM_004614.4(TK2):c.*1681A>G http://identifiers.org/clinvar/320138 ^@ NM_004614.4(TK2):c.*1618C>A http://identifiers.org/clinvar/320142 ^@ NM_004614.4(TK2):c.*1443C>A http://identifiers.org/clinvar/329292 ^@ NM_181882.2(PRX):c.-114T>G http://identifiers.org/clinvar/320156 ^@ NM_004614.4(TK2):c.*342C>A http://identifiers.org/clinvar/320158 ^@ NM_004614.4(TK2):c.288C>T (p.Gly96=) http://identifiers.org/clinvar/322088 ^@ NM_145691.3(ATPAF2):c.*456T>C http://identifiers.org/clinvar/329293 ^@ NM_181882.2(PRX):c.-143G>A http://identifiers.org/clinvar/322091 ^@ NM_145691.3(ATPAF2):c.*194C>A http://identifiers.org/clinvar/329295 ^@ NM_181882.2(PRX):c.-198-14C>T http://identifiers.org/clinvar/320164 ^@ NM_001538.3(HSF4):c.-848_-847dupCG http://identifiers.org/clinvar/329300 ^@ NM_003573.2(LTBP4):c.213C>A (p.Leu71=) http://identifiers.org/clinvar/320172 ^@ NM_001538.3(HSF4):c.-223C>T http://identifiers.org/clinvar/320179 ^@ NM_001538.3(HSF4):c.259G>A (p.Glu87Lys) http://identifiers.org/clinvar/322096 ^@ NM_145691.3(ATPAF2):c.250G>A (p.Glu84Lys) http://identifiers.org/clinvar/329305 ^@ NM_003573.2(LTBP4):c.948G>A (p.Gly316=) http://identifiers.org/clinvar/329306 ^@ NM_003573.2(LTBP4):c.1414C>T (p.Arg472Cys) http://identifiers.org/clinvar/320180 ^@ NM_001538.3(HSF4):c.394C>T (p.Arg132Cys) http://identifiers.org/clinvar/322097 ^@ NM_145691.3(ATPAF2):c.-1G>T http://identifiers.org/clinvar/322098 ^@ NM_145691.3(ATPAF2):c.-107G>A http://identifiers.org/clinvar/320183 ^@ NM_001538.3(HSF4):c.594G>T (p.Ala198=) http://identifiers.org/clinvar/329315 ^@ NM_003573.2(LTBP4):c.2247C>G (p.Asn749Lys) http://identifiers.org/clinvar/322103 ^@ NM_016239.3(MYO15A):c.-203C>T http://identifiers.org/clinvar/322105 ^@ NM_016239.3(MYO15A):c.-144G>A http://identifiers.org/clinvar/322106 ^@ NM_016239.3(MYO15A):c.-76A>C http://identifiers.org/clinvar/329317 ^@ NM_003573.2(LTBP4):c.2509G>C (p.Gly837Arg) http://identifiers.org/clinvar/322112 ^@ NM_016239.3(MYO15A):c.671A>G (p.Tyr224Cys) http://identifiers.org/clinvar/329318 ^@ NM_003573.2(LTBP4):c.2526G>A (p.Val842=) http://identifiers.org/clinvar/320184 ^@ NM_001538.3(HSF4):c.627-11C>T http://identifiers.org/clinvar/329323 ^@ NM_003573.2(LTBP4):c.3024C>T (p.Gly1008=) http://identifiers.org/clinvar/322119 ^@ NM_016239.3(MYO15A):c.1602C>T (p.Phe534=) http://identifiers.org/clinvar/329339 ^@ NM_030578.3(B9D2):c.*38G>A http://identifiers.org/clinvar/322122 ^@ NM_016239.3(MYO15A):c.2019G>T (p.Gly673=) http://identifiers.org/clinvar/322131 ^@ NM_016239.3(MYO15A):c.3623G>A (p.Arg1208His) http://identifiers.org/clinvar/329342 ^@ NM_030578.3(B9D2):c.263G>A (p.Arg88His) http://identifiers.org/clinvar/320185 ^@ NM_001538.3(HSF4):c.636G>T (p.Met212Ile) http://identifiers.org/clinvar/329343 ^@ NM_030578.3(B9D2):c.261C>T (p.Gly87=) http://identifiers.org/clinvar/320188 ^@ NM_001538.3(HSF4):c.1037T>C (p.Leu346Pro) http://identifiers.org/clinvar/322143 ^@ NM_016239.3(MYO15A):c.4597-9C>T http://identifiers.org/clinvar/322144 ^@ NM_016239.3(MYO15A):c.4611G>T (p.Glu1537Asp) http://identifiers.org/clinvar/322150 ^@ NM_016239.3(MYO15A):c.5603G>A (p.Arg1868His) http://identifiers.org/clinvar/329344 ^@ NM_030578.3(B9D2):c.224G>A (p.Arg75Gln) http://identifiers.org/clinvar/322152 ^@ NM_016239.3(MYO15A):c.5709T>A (p.Asn1903Lys) http://identifiers.org/clinvar/320190 ^@ NM_001538.3(HSF4):c.1305C>A (p.Gly435=) http://identifiers.org/clinvar/320192 ^@ NM_001538.3(HSF4):c.*30delC http://identifiers.org/clinvar/320194 ^@ NM_001538.3(HSF4):c.*158_*159dupTT http://identifiers.org/clinvar/320196 ^@ NM_000229.1(LCAT):c.1177C>T (p.Leu393=) http://identifiers.org/clinvar/320198 ^@ NM_000229.1(LCAT):c.981A>C (p.Gly327=) http://identifiers.org/clinvar/329349 ^@ NM_030578.3(B9D2):c.-80G>A http://identifiers.org/clinvar/322153 ^@ NM_016239.3(MYO15A):c.5965-8C>T http://identifiers.org/clinvar/322157 ^@ NM_016239.3(MYO15A):c.6689A>G (p.Asn2230Ser) http://identifiers.org/clinvar/329350 ^@ NM_030578.3(B9D2):c.-124G>A http://identifiers.org/clinvar/329362 ^@ NM_000709.3(BCKDHA):c.436G>A (p.Ala146Thr) http://identifiers.org/clinvar/320203 ^@ NM_001793.5(CDH3):c.-983A>G http://identifiers.org/clinvar/322165 ^@ NM_016239.3(MYO15A):c.7786A>G (p.Arg2596Gly) http://identifiers.org/clinvar/320204 ^@ NM_001793.5(CDH3):c.-679T>C http://identifiers.org/clinvar/322167 ^@ NM_016239.3(MYO15A):c.8108G>C (p.Ser2703Thr) http://identifiers.org/clinvar/322176 ^@ NM_016239.3(MYO15A):c.9157-9C>A http://identifiers.org/clinvar/329365 ^@ NM_000709.3(BCKDHA):c.842G>T (p.Gly281Val) http://identifiers.org/clinvar/329374 ^@ NM_000709.3(BCKDHA):c.*309A>G http://identifiers.org/clinvar/320206 ^@ NM_001793.5(CDH3):c.-629dupA http://identifiers.org/clinvar/322178 ^@ NM_016239.3(MYO15A):c.9665G>A (p.Arg3222His) http://identifiers.org/clinvar/329378 ^@ NM_000709.3(BCKDHA):c.*365A>G http://identifiers.org/clinvar/329390 ^@ NM_001022.3(RPS19):c.1-9C>A http://identifiers.org/clinvar/322180 ^@ NM_016239.3(MYO15A):c.9792G>A (p.Gln3264=) http://identifiers.org/clinvar/329396 ^@ NM_152296.4(ATP1A3):c.*298C>T http://identifiers.org/clinvar/322181 ^@ NM_016239.3(MYO15A):c.9948+11G>C http://identifiers.org/clinvar/329407 ^@ NM_152296.4(ATP1A3):c.2307C>T (p.Thr769=) http://identifiers.org/clinvar/320208 ^@ NM_001793.5(CDH3):c.-626_-620delAAAAAGA http://identifiers.org/clinvar/329410 ^@ NM_152296.4(ATP1A3):c.1924G>A (p.Val642Ile) http://identifiers.org/clinvar/320212 ^@ NM_001793.5(CDH3):c.-537A>G http://identifiers.org/clinvar/329412 ^@ NM_152296.4(ATP1A3):c.1806+14T>C http://identifiers.org/clinvar/320218 ^@ NM_001793.5(CDH3):c.-141C>G http://identifiers.org/clinvar/320220 ^@ NM_001793.5(CDH3):c.-72T>C http://identifiers.org/clinvar/322185 ^@ NM_016239.3(MYO15A):c.10555C>T (p.Arg3519Trp) http://identifiers.org/clinvar/322186 ^@ NM_016239.3(MYO15A):c.*68A>C http://identifiers.org/clinvar/329415 ^@ NM_152296.4(ATP1A3):c.1695C>T (p.Asp565=) http://identifiers.org/clinvar/322187 ^@ NM_016239.3(MYO15A):c.*117C>A http://identifiers.org/clinvar/329419 ^@ NM_152296.4(ATP1A3):c.1281G>A (p.Gln427=) http://identifiers.org/clinvar/320223 ^@ NM_001793.5(CDH3):c.100G>A (p.Ala34Thr) http://identifiers.org/clinvar/329423 ^@ NM_152296.4(ATP1A3):c.909C>T (p.Leu303=) http://identifiers.org/clinvar/322188 ^@ NM_016239.3(MYO15A):c.*166C>A http://identifiers.org/clinvar/329426 ^@ NM_152296.4(ATP1A3):c.363C>T (p.Tyr121=) http://identifiers.org/clinvar/329430 ^@ NM_152296.4(ATP1A3):c.207A>T (p.Ala69=) http://identifiers.org/clinvar/322190 ^@ NM_016239.3(MYO15A):c.*515C>G http://identifiers.org/clinvar/329440 ^@ NM_014297.4(ETHE1):c.*31A>G http://identifiers.org/clinvar/320224 ^@ NM_001793.5(CDH3):c.166A>G (p.Met56Val) http://identifiers.org/clinvar/322197 ^@ NM_015681.4(B9D1):c.*47C>T http://identifiers.org/clinvar/320228 ^@ NM_001793.5(CDH3):c.691G>C (p.Gly231Arg) http://identifiers.org/clinvar/320230 ^@ NM_001793.5(CDH3):c.813C>A (p.Thr271=) http://identifiers.org/clinvar/329455 ^@ NM_000483.4(APOC2):c.301G>A (p.Glu101Lys) http://identifiers.org/clinvar/329456 ^@ NM_000483.4(APOC2):c.*24C>T http://identifiers.org/clinvar/322201 ^@ NM_015681.4(B9D1):c.-79C>G http://identifiers.org/clinvar/329458 ^@ NM_000483.4(APOC2):c.*116T>C http://identifiers.org/clinvar/322209 ^@ NM_000382.2(ALDH3A2):c.417G>A (p.Leu139=) http://identifiers.org/clinvar/329459 ^@ NM_000483.4(APOC2):c.*174T>C http://identifiers.org/clinvar/322213 ^@ NM_000382.2(ALDH3A2):c.786G>A (p.Lys262=) http://identifiers.org/clinvar/320234 ^@ NM_001793.5(CDH3):c.1043G>A (p.Arg348Lys) http://identifiers.org/clinvar/322217 ^@ NM_000382.2(ALDH3A2):c.1188T>G (p.Ser396=) http://identifiers.org/clinvar/320236 ^@ NM_001793.5(CDH3):c.1183-12C>T http://identifiers.org/clinvar/322218 ^@ NM_000382.2(ALDH3A2):c.1444-4C>T http://identifiers.org/clinvar/329472 ^@ NM_212550.4(BLOC1S3):c.17G>A (p.Arg6His) http://identifiers.org/clinvar/320238 ^@ NM_001793.5(CDH3):c.1257G>A (p.Lys419=) http://identifiers.org/clinvar/320245 ^@ NM_001793.5(CDH3):c.1689G>C (p.Gln563His) http://identifiers.org/clinvar/320248 ^@ NM_001793.5(CDH3):c.1848C>T (p.Asp616=) http://identifiers.org/clinvar/322224 ^@ NM_000382.2(ALDH3A2):c.*378G>A http://identifiers.org/clinvar/320252 ^@ NM_001793.5(CDH3):c.2280+7C>T http://identifiers.org/clinvar/322226 ^@ NM_000382.2(ALDH3A2):c.*636T>C http://identifiers.org/clinvar/329474 ^@ NM_212550.4(BLOC1S3):c.234G>A (p.Arg78=) http://identifiers.org/clinvar/320255 ^@ NM_001793.5(CDH3):c.2444G>A (p.Arg815His) http://identifiers.org/clinvar/320256 ^@ NM_001793.5(CDH3):c.2484C>T (p.Asp828=) http://identifiers.org/clinvar/322230 ^@ NM_000382.2(ALDH3A2):c.*973T>C http://identifiers.org/clinvar/322236 ^@ NM_000382.2(ALDH3A2):c.*1600C>G http://identifiers.org/clinvar/322239 ^@ NM_000382.2(ALDH3A2):c.*1802A>G http://identifiers.org/clinvar/320261 ^@ NM_001793.5(CDH3):c.*498G>A http://identifiers.org/clinvar/320263 ^@ NM_001793.5(CDH3):c.*595G>A http://identifiers.org/clinvar/329478 ^@ NM_212550.4(BLOC1S3):c.*69G>A http://identifiers.org/clinvar/322241 ^@ NM_000382.2(ALDH3A2):c.*1900A>G http://identifiers.org/clinvar/329480 ^@ NM_212550.4(BLOC1S3):c.*157A>G http://identifiers.org/clinvar/320266 ^@ NM_004360.4(CDH1):c.1936A>G (p.Thr646Ala) http://identifiers.org/clinvar/320273 ^@ NM_004360.4(CDH1):c.*221delT http://identifiers.org/clinvar/322244 ^@ NM_000430.3(PAFAH1B1):c.-534_-529dupTGGAGC http://identifiers.org/clinvar/322253 ^@ NM_000430.3(PAFAH1B1):c.-299C>T http://identifiers.org/clinvar/320271 ^@ NM_004360.4(CDH1):c.*221dupT http://identifiers.org/clinvar/329482 ^@ NM_212550.4(BLOC1S3):c.*331T>A http://identifiers.org/clinvar/322254 ^@ NM_000430.3(PAFAH1B1):c.-294C>T http://identifiers.org/clinvar/322258 ^@ NM_000430.3(PAFAH1B1):c.-133A>T http://identifiers.org/clinvar/320279 ^@ NM_004360.4(CDH1):c.*475delT http://identifiers.org/clinvar/320280 ^@ NM_004360.4(CDH1):c.*575A>C http://identifiers.org/clinvar/320282 ^@ NM_004360.4(CDH1):c.*615G>A http://identifiers.org/clinvar/329483 ^@ NM_212550.4(BLOC1S3):c.*389G>A http://identifiers.org/clinvar/320283 ^@ NM_004360.4(CDH1):c.*621C>T http://identifiers.org/clinvar/320284 ^@ NM_004360.4(CDH1):c.*623A>G http://identifiers.org/clinvar/320285 ^@ NM_004360.4(CDH1):c.*746C>A http://identifiers.org/clinvar/320289 ^@ NM_004360.4(CDH1):c.*1049A>C http://identifiers.org/clinvar/320292 ^@ NM_004360.4(CDH1):c.*1176T>G http://identifiers.org/clinvar/320293 ^@ NM_004360.4(CDH1):c.*1285T>C http://identifiers.org/clinvar/322263 ^@ NM_000430.3(PAFAH1B1):c.900+11dupT http://identifiers.org/clinvar/320294 ^@ NM_004360.4(CDH1):c.*1435A>T http://identifiers.org/clinvar/329489 ^@ NM_212550.4(BLOC1S3):c.*1253C>T http://identifiers.org/clinvar/322275 ^@ NM_000430.3(PAFAH1B1):c.*852A>G http://identifiers.org/clinvar/320297 ^@ NM_004360.4(CDH1):c.*1691G>T http://identifiers.org/clinvar/320299 ^@ NM_004360.4(CDH1):c.*1835T>C http://identifiers.org/clinvar/322282 ^@ NM_000430.3(PAFAH1B1):c.*1297T>G http://identifiers.org/clinvar/329490 ^@ NM_212550.4(BLOC1S3):c.*1286T>C http://identifiers.org/clinvar/329493 ^@ NM_212550.4(BLOC1S3):c.*1746C>G http://identifiers.org/clinvar/320300 ^@ NM_004360.4(CDH1):c.*1872C>T http://identifiers.org/clinvar/322283 ^@ NM_000430.3(PAFAH1B1):c.*1331C>G http://identifiers.org/clinvar/320301 ^@ NM_004360.4(CDH1):c.*1873G>A http://identifiers.org/clinvar/322285 ^@ NM_000430.3(PAFAH1B1):c.*1378G>A http://identifiers.org/clinvar/329496 ^@ NM_000400.3(ERCC2):c.*172G>A http://identifiers.org/clinvar/320304 ^@ NM_032382.4(COG8):c.*492C>T http://identifiers.org/clinvar/329506 ^@ NM_000400.3(ERCC2):c.1962C>T (p.Phe654=) http://identifiers.org/clinvar/322287 ^@ NM_000430.3(PAFAH1B1):c.*1523_*1524delAG http://identifiers.org/clinvar/329511 ^@ NM_000400.3(ERCC2):c.1479+2dupT http://identifiers.org/clinvar/322288 ^@ NM_000430.3(PAFAH1B1):c.*1601C>T http://identifiers.org/clinvar/322293 ^@ NM_000430.3(PAFAH1B1):c.*1848A>G http://identifiers.org/clinvar/320305 ^@ NM_032382.4(COG8):c.*332A>T http://identifiers.org/clinvar/320308 ^@ NM_032382.4(COG8):c.*26+10G>T http://identifiers.org/clinvar/329514 ^@ NM_000400.3(ERCC2):c.1276C>T (p.Pro426Ser) http://identifiers.org/clinvar/320310 ^@ NM_032382.4(COG8):c.1620A>C (p.Leu540=) http://identifiers.org/clinvar/329517 ^@ NM_000400.3(ERCC2):c.988C>T (p.Leu330=) http://identifiers.org/clinvar/322296 ^@ NM_000430.3(PAFAH1B1):c.*1934_*1935delAA http://identifiers.org/clinvar/329521 ^@ NM_000400.3(ERCC2):c.902C>A (p.Thr301Lys) http://identifiers.org/clinvar/329526 ^@ NM_000400.3(ERCC2):c.691G>A (p.Val231Met) http://identifiers.org/clinvar/329528 ^@ NM_000400.3(ERCC2):c.308C>T (p.Pro103Leu) http://identifiers.org/clinvar/322300 ^@ NM_000430.3(PAFAH1B1):c.*2230G>A http://identifiers.org/clinvar/322301 ^@ NM_000430.3(PAFAH1B1):c.*2355A>G http://identifiers.org/clinvar/329534 ^@ NM_202001.2(ERCC1):c.875G>A (p.Trp292Ter) http://identifiers.org/clinvar/322302 ^@ NM_000430.3(PAFAH1B1):c.*2356T>C http://identifiers.org/clinvar/322306 ^@ NM_000430.3(PAFAH1B1):c.*2584C>T http://identifiers.org/clinvar/320311 ^@ NM_032382.4(COG8):c.1212C>T (p.Ala404=) http://identifiers.org/clinvar/320315 ^@ NM_032382.4(COG8):c.747G>A (p.Gln249=) http://identifiers.org/clinvar/322314 ^@ NM_000430.3(PAFAH1B1):c.*2922T>C http://identifiers.org/clinvar/320317 ^@ NM_032382.4(COG8):c.585+8C>T http://identifiers.org/clinvar/329542 ^@ NM_206900.2(RTN2):c.*300G>C http://identifiers.org/clinvar/320319 ^@ NM_001605.2(AARS):c.*324G>A http://identifiers.org/clinvar/322316 ^@ NM_000430.3(PAFAH1B1):c.*3038C>T http://identifiers.org/clinvar/329544 ^@ NM_206900.2(RTN2):c.*217G>A http://identifiers.org/clinvar/329545 ^@ NM_206900.2(RTN2):c.*148G>A http://identifiers.org/clinvar/322323 ^@ NM_000430.3(PAFAH1B1):c.*3319G>C http://identifiers.org/clinvar/320320 ^@ NM_001605.2(AARS):c.*251A>C http://identifiers.org/clinvar/329547 ^@ NM_206900.2(RTN2):c.1374C>T (p.Ala458=) http://identifiers.org/clinvar/329550 ^@ NM_206900.2(RTN2):c.814+959G>A http://identifiers.org/clinvar/322325 ^@ NM_000430.3(PAFAH1B1):c.*3371G>T http://identifiers.org/clinvar/329555 ^@ NM_025136.3(OPA3):c.*6902G>A http://identifiers.org/clinvar/322330 ^@ NM_000430.3(PAFAH1B1):c.*3570G>A http://identifiers.org/clinvar/320321 ^@ NM_001605.2(AARS):c.*213C>T http://identifiers.org/clinvar/329557 ^@ NM_025136.3(OPA3):c.*6773G>T http://identifiers.org/clinvar/322331 ^@ NM_000430.3(PAFAH1B1):c.*3584G>A http://identifiers.org/clinvar/329562 ^@ NM_025136.3(OPA3):c.*6461C>T http://identifiers.org/clinvar/320324 ^@ NM_001605.2(AARS):c.2732A>G (p.Asn911Ser) http://identifiers.org/clinvar/329564 ^@ NM_025136.3(OPA3):c.*6436_*6437insG http://identifiers.org/clinvar/322332 ^@ NM_000430.3(PAFAH1B1):c.*3627_*3628delAA http://identifiers.org/clinvar/329575 ^@ NM_025136.3(OPA3):c.*5944G>A http://identifiers.org/clinvar/320327 ^@ NM_001605.2(AARS):c.2596G>A (p.Ala866Thr) http://identifiers.org/clinvar/322334 ^@ NM_000430.3(PAFAH1B1):c.*3694C>T http://identifiers.org/clinvar/320332 ^@ NM_001605.2(AARS):c.2217C>T (p.Ile739=) http://identifiers.org/clinvar/329576 ^@ NM_025136.3(OPA3):c.*5905G>A http://identifiers.org/clinvar/322338 ^@ NM_080669.5(SLC46A1):c.*4729delC http://identifiers.org/clinvar/322342 ^@ NM_080669.5(SLC46A1):c.*4634_*4635dupTT http://identifiers.org/clinvar/329582 ^@ NM_025136.3(OPA3):c.*5739C>T http://identifiers.org/clinvar/322347 ^@ NM_080669.5(SLC46A1):c.*3959C>G http://identifiers.org/clinvar/329585 ^@ NM_025136.3(OPA3):c.*5523G>A http://identifiers.org/clinvar/320333 ^@ NM_001605.2(AARS):c.2129C>T (p.Pro710Leu) http://identifiers.org/clinvar/329588 ^@ NM_025136.3(OPA3):c.*5258A>G http://identifiers.org/clinvar/322363 ^@ NM_080669.5(SLC46A1):c.*3009G>A http://identifiers.org/clinvar/322364 ^@ NM_080669.5(SLC46A1):c.*2968C>T http://identifiers.org/clinvar/322365 ^@ NM_080669.5(SLC46A1):c.*2853G>A http://identifiers.org/clinvar/322366 ^@ NM_080669.5(SLC46A1):c.*2843G>A http://identifiers.org/clinvar/329589 ^@ NM_025136.3(OPA3):c.*4969C>G http://identifiers.org/clinvar/322375 ^@ NM_080669.5(SLC46A1):c.*2248T>C http://identifiers.org/clinvar/320334 ^@ NM_001605.2(AARS):c.2109G>C (p.Val703=) http://identifiers.org/clinvar/320337 ^@ NM_001605.2(AARS):c.1737C>T (p.Ile579=) http://identifiers.org/clinvar/322378 ^@ NM_080669.5(SLC46A1):c.*1831C>A http://identifiers.org/clinvar/320340 ^@ NM_001605.2(AARS):c.1587G>A (p.Leu529=) http://identifiers.org/clinvar/329593 ^@ NM_025136.3(OPA3):c.*4862_*4865delTAAA http://identifiers.org/clinvar/329597 ^@ NM_025136.3(OPA3):c.*4794C>T http://identifiers.org/clinvar/322380 ^@ NM_080669.5(SLC46A1):c.*1774A>G http://identifiers.org/clinvar/329599 ^@ NM_025136.3(OPA3):c.*4716_*4723dupATAAATAA http://identifiers.org/clinvar/329603 ^@ NM_025136.3(OPA3):c.*4586G>A http://identifiers.org/clinvar/320341 ^@ NM_001605.2(AARS):c.1493-7T>C http://identifiers.org/clinvar/329605 ^@ NM_025136.3(OPA3):c.*4521G>A http://identifiers.org/clinvar/322381 ^@ NM_080669.5(SLC46A1):c.*1649A>G http://identifiers.org/clinvar/329608 ^@ NM_025136.3(OPA3):c.*4419C>T http://identifiers.org/clinvar/329618 ^@ NM_025136.3(OPA3):c.*3845C>T http://identifiers.org/clinvar/320343 ^@ NM_001605.2(AARS):c.1332G>A (p.Glu444=) http://identifiers.org/clinvar/320346 ^@ NM_001605.2(AARS):c.962+15C>T http://identifiers.org/clinvar/320347 ^@ NM_001605.2(AARS):c.904G>A (p.Ala302Thr) http://identifiers.org/clinvar/320360 ^@ NM_015386.2(COG4):c.*85T>G http://identifiers.org/clinvar/329619 ^@ NM_025136.3(OPA3):c.*3755G>A http://identifiers.org/clinvar/329621 ^@ NM_025136.3(OPA3):c.*3581C>T http://identifiers.org/clinvar/322384 ^@ NM_080669.5(SLC46A1):c.*1407C>T http://identifiers.org/clinvar/329638 ^@ NM_025136.3(OPA3):c.*2545G>A http://identifiers.org/clinvar/320362 ^@ NM_015386.2(COG4):c.2278T>C (p.Leu760=) http://identifiers.org/clinvar/329640 ^@ NM_025136.3(OPA3):c.*2490C>T http://identifiers.org/clinvar/320363 ^@ NM_015386.2(COG4):c.2272G>A (p.Gly758Ser) http://identifiers.org/clinvar/320364 ^@ NM_015386.2(COG4):c.2271C>T (p.Ser757=) http://identifiers.org/clinvar/322389 ^@ NM_080669.5(SLC46A1):c.*1094A>G http://identifiers.org/clinvar/329644 ^@ NM_025136.3(OPA3):c.*2101A>T http://identifiers.org/clinvar/322395 ^@ NM_080669.5(SLC46A1):c.*785T>G http://identifiers.org/clinvar/322396 ^@ NM_080669.5(SLC46A1):c.*729G>A http://identifiers.org/clinvar/320374 ^@ NM_015386.2(COG4):c.1269A>G (p.Leu423=) http://identifiers.org/clinvar/329651 ^@ NM_025136.3(OPA3):c.*1799A>G http://identifiers.org/clinvar/329657 ^@ NM_025136.3(OPA3):c.*1294dupA http://identifiers.org/clinvar/320383 ^@ NM_015386.2(COG4):c.129G>A (p.Leu43=) http://identifiers.org/clinvar/320388 ^@ NM_000353.2(TAT):c.*1056G>C http://identifiers.org/clinvar/329660 ^@ NM_025136.3(OPA3):c.*1213C>T http://identifiers.org/clinvar/329669 ^@ NM_025136.3(OPA3):c.*677C>T http://identifiers.org/clinvar/320399 ^@ NM_000353.2(TAT):c.*251T>A http://identifiers.org/clinvar/320402 ^@ NM_000353.2(TAT):c.*81G>A http://identifiers.org/clinvar/320404 ^@ NM_000353.2(TAT):c.1173G>A (p.Glu391=) http://identifiers.org/clinvar/322401 ^@ NM_080669.5(SLC46A1):c.*60G>T http://identifiers.org/clinvar/329678 ^@ NM_025136.3(OPA3):c.*326_*327delGT http://identifiers.org/clinvar/322408 ^@ NM_080669.5(SLC46A1):c.642G>A (p.Leu214=) http://identifiers.org/clinvar/329686 ^@ NM_025136.3(OPA3):c.-47_-40delGCCCCGCC http://identifiers.org/clinvar/329689 ^@ NM_025136.3(OPA3):c.-96A>G http://identifiers.org/clinvar/322409 ^@ NM_080669.5(SLC46A1):c.512T>A (p.Val171Asp) http://identifiers.org/clinvar/322412 ^@ NM_080669.5(SLC46A1):c.-67G>T http://identifiers.org/clinvar/329693 ^@ NM_000554.5(CRX):c.28C>G (p.His10Asp) http://identifiers.org/clinvar/329697 ^@ NM_000554.5(CRX):c.551C>T (p.Pro184Leu) http://identifiers.org/clinvar/322417 ^@ NM_003593.2(FOXN1):c.497C>T (p.Ala166Val) http://identifiers.org/clinvar/320405 ^@ NM_000353.2(TAT):c.1090C>T (p.Arg364Trp) http://identifiers.org/clinvar/329703 ^@ NM_000554.5(CRX):c.*132G>A http://identifiers.org/clinvar/329706 ^@ NM_000554.5(CRX):c.*314_*316delAAG http://identifiers.org/clinvar/322418 ^@ NM_003593.2(FOXN1):c.539G>C (p.Trp180Ser) http://identifiers.org/clinvar/322422 ^@ NM_003593.2(FOXN1):c.611C>T (p.Pro204Leu) http://identifiers.org/clinvar/320408 ^@ NM_000353.2(TAT):c.997C>A (p.Arg333Ser) http://identifiers.org/clinvar/322431 ^@ NM_003593.2(FOXN1):c.1443G>T (p.Leu481=) http://identifiers.org/clinvar/320409 ^@ NM_000353.2(TAT):c.707-3C>T http://identifiers.org/clinvar/320414 ^@ NM_000353.2(TAT):c.133C>T (p.Pro45Ser) http://identifiers.org/clinvar/322433 ^@ NM_003593.2(FOXN1):c.1556T>A (p.Leu519Gln) http://identifiers.org/clinvar/329707 ^@ NM_000554.5(CRX):c.*392G>A http://identifiers.org/clinvar/320424 ^@ NM_001361.4(DHODH):c.570C>T (p.Ala190=) http://identifiers.org/clinvar/329711 ^@ NM_000554.5(CRX):c.*436G>T http://identifiers.org/clinvar/329713 ^@ NM_000554.5(CRX):c.*579T>C http://identifiers.org/clinvar/322435 ^@ NM_003593.2(FOXN1):c.1706C>A (p.Ser569Tyr) http://identifiers.org/clinvar/329724 ^@ NM_000554.5(CRX):c.*769G>A http://identifiers.org/clinvar/320425 ^@ NM_001361.4(DHODH):c.655G>A (p.Gly219Arg) http://identifiers.org/clinvar/320430 ^@ NM_001361.4(DHODH):c.804C>T (p.Ala268=) http://identifiers.org/clinvar/320434 ^@ NM_001361.4(DHODH):c.869C>T (p.Ala290Val) http://identifiers.org/clinvar/320438 ^@ NM_001361.4(DHODH):c.959A>C (p.Tyr320Ser) http://identifiers.org/clinvar/329732 ^@ NM_000554.5(CRX):c.*996C>G http://identifiers.org/clinvar/329733 ^@ NM_000554.5(CRX):c.*1046C>T http://identifiers.org/clinvar/322437 ^@ NM_003593.2(FOXN1):c.1822C>T (p.Leu608=) http://identifiers.org/clinvar/320444 ^@ NM_001361.4(DHODH):c.*189C>T http://identifiers.org/clinvar/329738 ^@ NM_000554.5(CRX):c.*1220G>A http://identifiers.org/clinvar/329740 ^@ NM_000554.5(CRX):c.*1309T>C http://identifiers.org/clinvar/320451 ^@ NM_001361.4(DHODH):c.*612T>C http://identifiers.org/clinvar/322438 ^@ NM_003593.2(FOXN1):c.*15C>T http://identifiers.org/clinvar/322445 ^@ NM_003593.2(FOXN1):c.*454A>C http://identifiers.org/clinvar/329741 ^@ NM_000554.5(CRX):c.*1346G>A http://identifiers.org/clinvar/329743 ^@ NM_000554.5(CRX):c.*1621_*1623dupTTT http://identifiers.org/clinvar/320454 ^@ NM_001361.4(DHODH):c.*819A>G http://identifiers.org/clinvar/322448 ^@ NM_003593.2(FOXN1):c.*620C>T http://identifiers.org/clinvar/320457 ^@ NM_001361.4(DHODH):c.*1014C>T http://identifiers.org/clinvar/329745 ^@ NM_000554.5(CRX):c.*1671G>A http://identifiers.org/clinvar/329747 ^@ NM_000554.5(CRX):c.*1792C>T http://identifiers.org/clinvar/322450 ^@ NM_003593.2(FOXN1):c.*626G>C http://identifiers.org/clinvar/320467 ^@ NM_024306.4(FA2H):c.*958C>T http://identifiers.org/clinvar/322451 ^@ NM_005148.3(UNC119):c.*385T>C http://identifiers.org/clinvar/320468 ^@ NM_024306.4(FA2H):c.*911C>A http://identifiers.org/clinvar/320469 ^@ NM_024306.4(FA2H):c.*887T>A http://identifiers.org/clinvar/320470 ^@ NM_024306.4(FA2H):c.*821C>G http://identifiers.org/clinvar/329749 ^@ NM_000554.5(CRX):c.*1917G>A http://identifiers.org/clinvar/329769 ^@ NM_000554.5(CRX):c.*2717G>T http://identifiers.org/clinvar/320471 ^@ NM_024306.4(FA2H):c.*813C>T http://identifiers.org/clinvar/329770 ^@ NM_000554.5(CRX):c.*2739G>A http://identifiers.org/clinvar/329775 ^@ NM_000554.5(CRX):c.*2880T>C http://identifiers.org/clinvar/322455 ^@ NM_005148.3(UNC119):c.*226C>T http://identifiers.org/clinvar/329779 ^@ NM_000554.5(CRX):c.*3017C>T http://identifiers.org/clinvar/320472 ^@ NM_024306.4(FA2H):c.*783G>A http://identifiers.org/clinvar/329782 ^@ NM_000554.5(CRX):c.*3285C>G http://identifiers.org/clinvar/322463 ^@ NM_005148.3(UNC119):c.509A>G (p.Gln170Arg) http://identifiers.org/clinvar/322468 ^@ NM_005148.3(UNC119):c.262T>C (p.Phe88Leu) http://identifiers.org/clinvar/329794 ^@ NM_002103.4(GYS1):c.*841A>G http://identifiers.org/clinvar/329802 ^@ NM_002103.4(GYS1):c.*78C>T http://identifiers.org/clinvar/322472 ^@ NM_005148.3(UNC119):c.-34G>T http://identifiers.org/clinvar/322478 ^@ NM_178170.2(NEK8):c.880C>T (p.Arg294Cys) http://identifiers.org/clinvar/320481 ^@ NM_024306.4(FA2H):c.*404T>A http://identifiers.org/clinvar/322479 ^@ NM_178170.2(NEK8):c.881G>T (p.Arg294Leu) http://identifiers.org/clinvar/320484 ^@ NM_024306.4(FA2H):c.*283G>C http://identifiers.org/clinvar/320486 ^@ NM_024306.4(FA2H):c.*253A>G http://identifiers.org/clinvar/329803 ^@ NM_002103.4(GYS1):c.*26G>A http://identifiers.org/clinvar/322481 ^@ NM_178170.2(NEK8):c.1148G>A (p.Arg383His) http://identifiers.org/clinvar/320488 ^@ NM_024306.4(FA2H):c.*150C>T http://identifiers.org/clinvar/320493 ^@ NM_024306.4(FA2H):c.1032G>C (p.Gln344His) http://identifiers.org/clinvar/329804 ^@ NM_002103.4(GYS1):c.2207G>A (p.Arg736His) http://identifiers.org/clinvar/329805 ^@ NM_002103.4(GYS1):c.2013C>T (p.Asp671=) http://identifiers.org/clinvar/322483 ^@ NM_178170.2(NEK8):c.1251C>T (p.Ser417=) http://identifiers.org/clinvar/320495 ^@ NM_024306.4(FA2H):c.844G>A (p.Gly282Ser) http://identifiers.org/clinvar/329806 ^@ NM_002103.4(GYS1):c.1990C>T (p.Arg664Trp) http://identifiers.org/clinvar/322491 ^@ NM_178170.2(NEK8):c.*338G>A http://identifiers.org/clinvar/329808 ^@ NM_002103.4(GYS1):c.1926G>A (p.Val642=) http://identifiers.org/clinvar/320498 ^@ NM_024306.4(FA2H):c.537G>A (p.Leu179=) http://identifiers.org/clinvar/329815 ^@ NM_002103.4(GYS1):c.1170-13C>T http://identifiers.org/clinvar/322498 ^@ NM_178170.2(NEK8):c.*430C>A http://identifiers.org/clinvar/322501 ^@ NM_178170.2(NEK8):c.*666C>T http://identifiers.org/clinvar/320507 ^@ NM_021615.4(CHST6):c.*5286A>T http://identifiers.org/clinvar/320509 ^@ NM_021615.4(CHST6):c.*5183G>A http://identifiers.org/clinvar/320510 ^@ NM_021615.4(CHST6):c.*5150G>A http://identifiers.org/clinvar/320513 ^@ NM_021615.4(CHST6):c.*4605C>T http://identifiers.org/clinvar/329819 ^@ NM_002103.4(GYS1):c.1021G>A (p.Val341Ile) http://identifiers.org/clinvar/320523 ^@ NM_021615.4(CHST6):c.*4086G>A http://identifiers.org/clinvar/322503 ^@ NM_001045.5(SLC6A4):c.*2112C>T http://identifiers.org/clinvar/320524 ^@ NM_021615.4(CHST6):c.*4085C>T http://identifiers.org/clinvar/320525 ^@ NM_021615.4(CHST6):c.*3992T>C http://identifiers.org/clinvar/329821 ^@ NM_002103.4(GYS1):c.741G>A (p.Ala247=) http://identifiers.org/clinvar/329822 ^@ NM_002103.4(GYS1):c.693G>A (p.Lys231=) http://identifiers.org/clinvar/320526 ^@ NM_021615.4(CHST6):c.*3828A>T http://identifiers.org/clinvar/320529 ^@ NM_021615.4(CHST6):c.*3811A>C http://identifiers.org/clinvar/320531 ^@ NM_021615.4(CHST6):c.*3742C>T http://identifiers.org/clinvar/322506 ^@ NM_001045.5(SLC6A4):c.*2085A>C http://identifiers.org/clinvar/329826 ^@ NM_002103.4(GYS1):c.354C>T (p.Asp118=) http://identifiers.org/clinvar/329837 ^@ NM_002103.4(GYS1):c.-199T>C http://identifiers.org/clinvar/320538 ^@ NM_021615.4(CHST6):c.*3364C>A http://identifiers.org/clinvar/322508 ^@ NM_001045.5(SLC6A4):c.*1767G>C http://identifiers.org/clinvar/320539 ^@ NM_021615.4(CHST6):c.*3225_*3226delCT http://identifiers.org/clinvar/329840 ^@ NM_017636.3(TRPM4):c.136G>T (p.Ala46Ser) http://identifiers.org/clinvar/320553 ^@ NM_021615.4(CHST6):c.*2288T>G http://identifiers.org/clinvar/320563 ^@ NM_021615.4(CHST6):c.*1810C>T http://identifiers.org/clinvar/322513 ^@ NM_001045.5(SLC6A4):c.*1179G>A http://identifiers.org/clinvar/329848 ^@ NM_017636.3(TRPM4):c.721G>A (p.Gly241Ser) http://identifiers.org/clinvar/322515 ^@ NM_001045.5(SLC6A4):c.*1127T>C http://identifiers.org/clinvar/322516 ^@ NM_001045.5(SLC6A4):c.*1029C>T http://identifiers.org/clinvar/322517 ^@ NM_001045.5(SLC6A4):c.*995C>T http://identifiers.org/clinvar/322521 ^@ NM_001045.5(SLC6A4):c.*463T>G http://identifiers.org/clinvar/329850 ^@ NM_017636.3(TRPM4):c.956_958delTGG (p.Leu319_Ala320delinsPro) http://identifiers.org/clinvar/329851 ^@ NM_017636.3(TRPM4):c.988G>A (p.Glu330Lys) http://identifiers.org/clinvar/322528 ^@ NM_001045.5(SLC6A4):c.*97G>C http://identifiers.org/clinvar/329854 ^@ NM_017636.3(TRPM4):c.1242T>C (p.Phe414=) http://identifiers.org/clinvar/329858 ^@ NM_017636.3(TRPM4):c.2085C>T (p.Leu695=) http://identifiers.org/clinvar/329869 ^@ NM_017636.3(TRPM4):c.2954-11T>C http://identifiers.org/clinvar/320565 ^@ NM_021615.4(CHST6):c.*1597T>G http://identifiers.org/clinvar/320566 ^@ NM_021615.4(CHST6):c.*1585G>T http://identifiers.org/clinvar/322529 ^@ NM_001045.5(SLC6A4):c.1815A>C (p.Lys605Asn) http://identifiers.org/clinvar/322532 ^@ NM_001045.5(SLC6A4):c.1317G>A (p.Thr439=) http://identifiers.org/clinvar/320572 ^@ NM_021615.4(CHST6):c.*1377G>A http://identifiers.org/clinvar/322534 ^@ NM_001045.5(SLC6A4):c.1205-9C>T http://identifiers.org/clinvar/329871 ^@ NM_017636.3(TRPM4):c.3024G>A (p.Ala1008=) http://identifiers.org/clinvar/329872 ^@ NM_017636.3(TRPM4):c.3082C>T (p.Leu1028=) http://identifiers.org/clinvar/322535 ^@ NM_001045.5(SLC6A4):c.1149C>T (p.Leu383=) http://identifiers.org/clinvar/322539 ^@ NM_001045.5(SLC6A4):c.138G>C (p.Gly46=) http://identifiers.org/clinvar/322542 ^@ NM_001045.5(SLC6A4):c.-49A>G http://identifiers.org/clinvar/322548 ^@ NM_001045.5(SLC6A4):c.-307G>A http://identifiers.org/clinvar/320573 ^@ NM_021615.4(CHST6):c.*1375G>A http://identifiers.org/clinvar/329874 ^@ NM_017636.3(TRPM4):c.*81G>T http://identifiers.org/clinvar/320576 ^@ NM_021615.4(CHST6):c.*1316A>C http://identifiers.org/clinvar/329882 ^@ NM_030973.3(MED25):c.1103C>A (p.Ala368Glu) http://identifiers.org/clinvar/320580 ^@ NM_021615.4(CHST6):c.*1058G>A http://identifiers.org/clinvar/320582 ^@ NM_021615.4(CHST6):c.*1031A>G http://identifiers.org/clinvar/322555 ^@ NM_000267.3(NF1):c.-249_-247dupCCC http://identifiers.org/clinvar/322554 ^@ NM_000267.3(NF1):c.-248_-247dupCC http://identifiers.org/clinvar/329910 ^@ NM_024729.3(MYH14):c.1271G>A (p.Arg424Gln) http://identifiers.org/clinvar/329912 ^@ NM_024729.3(MYH14):c.1755G>A (p.Pro585=) http://identifiers.org/clinvar/320585 ^@ NM_021615.4(CHST6):c.*955C>T http://identifiers.org/clinvar/329913 ^@ NM_024729.3(MYH14):c.1776C>T (p.Ala592=) http://identifiers.org/clinvar/320590 ^@ NM_021615.4(CHST6):c.*606G>A http://identifiers.org/clinvar/320594 ^@ NM_021615.4(CHST6):c.*472G>C http://identifiers.org/clinvar/329914 ^@ NM_024729.3(MYH14):c.1945C>G (p.Gln649Glu) http://identifiers.org/clinvar/322556 ^@ NM_000267.3(NF1):c.-242dupC http://identifiers.org/clinvar/329919 ^@ NM_024729.3(MYH14):c.2148T>C (p.Leu716=) http://identifiers.org/clinvar/322561 ^@ NM_000267.3(NF1):c.-173C>G http://identifiers.org/clinvar/329921 ^@ NM_024729.3(MYH14):c.2364G>A (p.Arg788=) http://identifiers.org/clinvar/320597 ^@ NM_021615.4(CHST6):c.*242T>C http://identifiers.org/clinvar/329922 ^@ NM_024729.3(MYH14):c.2477G>A (p.Arg826His) http://identifiers.org/clinvar/322563 ^@ NM_000267.3(NF1):c.-115T>C http://identifiers.org/clinvar/329931 ^@ NM_024729.3(MYH14):c.3470A>T (p.Gln1157Leu) http://identifiers.org/clinvar/322571 ^@ NM_000267.3(NF1):c.1846-8T>A http://identifiers.org/clinvar/329934 ^@ NM_024729.3(MYH14):c.3727C>T (p.Arg1243Trp) http://identifiers.org/clinvar/320598 ^@ NM_021615.4(CHST6):c.*241C>T http://identifiers.org/clinvar/329939 ^@ NM_024729.3(MYH14):c.4097G>A (p.Arg1366His) http://identifiers.org/clinvar/329944 ^@ NM_024729.3(MYH14):c.4608C>T (p.Ser1536=) http://identifiers.org/clinvar/322572 ^@ NM_000267.3(NF1):c.2794A>G (p.Met932Val) http://identifiers.org/clinvar/320601 ^@ NM_021615.4(CHST6):c.1181G>A (p.Arg394Gln) http://identifiers.org/clinvar/329946 ^@ NM_024729.3(MYH14):c.4918G>A (p.Glu1640Lys) http://identifiers.org/clinvar/320606 ^@ NM_021615.4(CHST6):c.892C>T (p.Gln298Ter) http://identifiers.org/clinvar/322573 ^@ NM_000267.3(NF1):c.3891A>G (p.Leu1297=) http://identifiers.org/clinvar/329948 ^@ NM_024729.3(MYH14):c.5324G>A (p.Arg1775His) http://identifiers.org/clinvar/320608 ^@ NM_021615.4(CHST6):c.718C>A (p.Arg240Ser) http://identifiers.org/clinvar/320609 ^@ NM_021615.4(CHST6):c.708C>T (p.Asp236=) http://identifiers.org/clinvar/320616 ^@ NM_021615.4(CHST6):c.-21C>A http://identifiers.org/clinvar/322575 ^@ NM_000267.3(NF1):c.6567G>A (p.Leu2189=) http://identifiers.org/clinvar/320622 ^@ NM_001130089.1(KARS):c.*33G>A http://identifiers.org/clinvar/320623 ^@ NM_001130089.1(KARS):c.*26C>G http://identifiers.org/clinvar/322577 ^@ NM_000267.3(NF1):c.7462C>T (p.Pro2488Ser) http://identifiers.org/clinvar/329957 ^@ NM_024729.3(MYH14):c.*144C>T http://identifiers.org/clinvar/320626 ^@ NM_001130089.1(KARS):c.1779+5G>A http://identifiers.org/clinvar/322579 ^@ NM_000267.3(NF1):c.*498T>G http://identifiers.org/clinvar/329966 ^@ NM_024729.3(MYH14):c.*400T>C http://identifiers.org/clinvar/322585 ^@ NM_000267.3(NF1):c.*871A>T http://identifiers.org/clinvar/329964 ^@ NM_024729.3(MYH14):c.*400_*403delTCTC http://identifiers.org/clinvar/320628 ^@ NM_001130089.1(KARS):c.1634A>G (p.Lys545Arg) http://identifiers.org/clinvar/329963 ^@ NM_024729.3(MYH14):c.*402_*403dupTC http://identifiers.org/clinvar/329972 ^@ NM_030657.3(LIM2):c.460G>A (p.Val154Ile) http://identifiers.org/clinvar/329974 ^@ NM_030657.3(LIM2):c.357C>T (p.Ser119=) http://identifiers.org/clinvar/320629 ^@ NM_001130089.1(KARS):c.1554C>T (p.Val518=) http://identifiers.org/clinvar/320631 ^@ NM_001130089.1(KARS):c.1509-13C>T http://identifiers.org/clinvar/322582 ^@ NM_000267.3(NF1):c.*873_*874dupAT http://identifiers.org/clinvar/322591 ^@ NM_000267.3(NF1):c.*1446T>C http://identifiers.org/clinvar/320634 ^@ NM_001130089.1(KARS):c.1333G>A (p.Glu445Lys) http://identifiers.org/clinvar/329977 ^@ NM_030657.3(LIM2):c.108C>T (p.Ser36=) http://identifiers.org/clinvar/329980 ^@ NM_030657.3(LIM2):c.-27C>T http://identifiers.org/clinvar/329984 ^@ NM_144687.3(NLRP12):c.*402G>A http://identifiers.org/clinvar/322596 ^@ NM_000267.3(NF1):c.*2132T>C http://identifiers.org/clinvar/322600 ^@ NM_000267.3(NF1):c.*2566C>T http://identifiers.org/clinvar/329992 ^@ NM_144687.3(NLRP12):c.*204C>T http://identifiers.org/clinvar/329993 ^@ NM_144687.3(NLRP12):c.*203T>C http://identifiers.org/clinvar/320638 ^@ NM_001130089.1(KARS):c.566+8G>A http://identifiers.org/clinvar/329999 ^@ NM_144687.3(NLRP12):c.3146C>T (p.Ala1049Val) http://identifiers.org/clinvar/322604 ^@ NM_000267.3(NF1):c.*2884T>A http://identifiers.org/clinvar/322605 ^@ NM_000267.3(NF1):c.*3091A>C http://identifiers.org/clinvar/322608 ^@ NM_000267.3(NF1):c.*3266G>A http://identifiers.org/clinvar/330001 ^@ NM_144687.3(NLRP12):c.3046C>T (p.Arg1016Ter) http://identifiers.org/clinvar/330005 ^@ NM_144687.3(NLRP12):c.2927+4_2927+5dupAG http://identifiers.org/clinvar/320639 ^@ NM_001130089.1(KARS):c.306+10C>T http://identifiers.org/clinvar/320640 ^@ NM_001130089.1(KARS):c.43C>T (p.Arg15Cys) http://identifiers.org/clinvar/330010 ^@ NM_144687.3(NLRP12):c.2755C>T (p.Arg919Trp) http://identifiers.org/clinvar/320644 ^@ NM_022041.3(GAN):c.-126T>C http://identifiers.org/clinvar/330014 ^@ NM_144687.3(NLRP12):c.2600G>A (p.Arg867His) http://identifiers.org/clinvar/320649 ^@ NM_022041.3(GAN):c.46C>T (p.Leu16=) http://identifiers.org/clinvar/330015 ^@ NM_144687.3(NLRP12):c.2579C>G (p.Thr860Ser) http://identifiers.org/clinvar/320653 ^@ NM_022041.3(GAN):c.444C>T (p.His148=) http://identifiers.org/clinvar/320657 ^@ NM_022041.3(GAN):c.1518C>T (p.Asn506=) http://identifiers.org/clinvar/322633 ^@ NM_000049.2(ASPA):c.509T>C (p.Ile170Thr) http://identifiers.org/clinvar/322670 ^@ NM_000049.2(ASPA):c.*27C>T http://identifiers.org/clinvar/320658 ^@ NM_022041.3(GAN):c.1612+12A>G http://identifiers.org/clinvar/320662 ^@ NM_022041.3(GAN):c.*32C>A http://identifiers.org/clinvar/320665 ^@ NM_022041.3(GAN):c.*159C>T http://identifiers.org/clinvar/320666 ^@ NM_022041.3(GAN):c.*214C>T http://identifiers.org/clinvar/320667 ^@ NM_022041.3(GAN):c.*235T>C http://identifiers.org/clinvar/320668 ^@ NM_022041.3(GAN):c.*247G>A http://identifiers.org/clinvar/320669 ^@ NM_022041.3(GAN):c.*291A>G http://identifiers.org/clinvar/330019 ^@ NM_144687.3(NLRP12):c.2493G>C (p.Glu831Asp) http://identifiers.org/clinvar/330026 ^@ NM_144687.3(NLRP12):c.2141A>G (p.Asn714Ser) http://identifiers.org/clinvar/322612 ^@ NM_002878.3(RAD51D):c.*715G>A http://identifiers.org/clinvar/322616 ^@ NM_002878.3(RAD51D):c.*373G>A http://identifiers.org/clinvar/322623 ^@ NM_002878.3(RAD51D):c.933T>G (p.Ile311Met) http://identifiers.org/clinvar/320675 ^@ NM_022041.3(GAN):c.*495G>A http://identifiers.org/clinvar/320680 ^@ NM_022041.3(GAN):c.*810C>A http://identifiers.org/clinvar/322682 ^@ NM_145068.3(TRPV3):c.*3051A>G http://identifiers.org/clinvar/320686 ^@ NM_022041.3(GAN):c.*1175C>A http://identifiers.org/clinvar/320694 ^@ NM_022041.3(GAN):c.*1454_*1455dupTT http://identifiers.org/clinvar/322691 ^@ NM_145068.3(TRPV3):c.*2490T>C http://identifiers.org/clinvar/322694 ^@ NM_145068.3(TRPV3):c.*2352G>A http://identifiers.org/clinvar/330030 ^@ NM_144687.3(NLRP12):c.1420A>T (p.Ile474Phe) http://identifiers.org/clinvar/330034 ^@ NM_144687.3(NLRP12):c.960G>A (p.Thr320=) http://identifiers.org/clinvar/322704 ^@ NM_145068.3(TRPV3):c.*2068A>G http://identifiers.org/clinvar/322628 ^@ NM_002878.3(RAD51D):c.-164G>A http://identifiers.org/clinvar/322629 ^@ NM_002878.3(RAD51D):c.-238A>T http://identifiers.org/clinvar/322709 ^@ NM_145068.3(TRPV3):c.*1841C>A http://identifiers.org/clinvar/322711 ^@ NM_145068.3(TRPV3):c.*1669G>A http://identifiers.org/clinvar/330040 ^@ NM_144687.3(NLRP12):c.629C>T (p.Pro210Leu) http://identifiers.org/clinvar/322716 ^@ NM_145068.3(TRPV3):c.*1591G>C http://identifiers.org/clinvar/322719 ^@ NM_145068.3(TRPV3):c.*1565T>C http://identifiers.org/clinvar/320702 ^@ NM_022041.3(GAN):c.*1883C>G http://identifiers.org/clinvar/330043 ^@ NM_144687.3(NLRP12):c.424G>A (p.Asp142Asn) http://identifiers.org/clinvar/322726 ^@ NM_145068.3(TRPV3):c.*1100T>A http://identifiers.org/clinvar/320708 ^@ NM_022041.3(GAN):c.*2280G>C http://identifiers.org/clinvar/322732 ^@ NM_145068.3(TRPV3):c.*842A>G http://identifiers.org/clinvar/322737 ^@ NM_145068.3(TRPV3):c.*576A>T http://identifiers.org/clinvar/320711 ^@ NM_022041.3(GAN):c.*2321_*2322insG http://identifiers.org/clinvar/330049 ^@ NM_144687.3(NLRP12):c.-56G>A http://identifiers.org/clinvar/320713 ^@ NM_022041.3(GAN):c.*2350T>A http://identifiers.org/clinvar/322738 ^@ NM_145068.3(TRPV3):c.*279G>C http://identifiers.org/clinvar/320716 ^@ NM_022041.3(GAN):c.*2492T>A http://identifiers.org/clinvar/330053 ^@ NM_144687.3(NLRP12):c.-143C>A http://identifiers.org/clinvar/322749 ^@ NM_145068.3(TRPV3):c.*32C>T http://identifiers.org/clinvar/322751 ^@ NM_145068.3(TRPV3):c.2358G>T (p.Pro786=) http://identifiers.org/clinvar/320717 ^@ NM_022041.3(GAN):c.*2498T>G http://identifiers.org/clinvar/320725 ^@ NM_012213.2(MLYCD):c.505C>T (p.Leu169=) http://identifiers.org/clinvar/322757 ^@ NM_145068.3(TRPV3):c.2011A>G (p.Asn671Asp) http://identifiers.org/clinvar/320726 ^@ NM_012213.2(MLYCD):c.529-8C>T http://identifiers.org/clinvar/320731 ^@ NM_012213.2(MLYCD):c.1044G>T (p.Glu348Asp) http://identifiers.org/clinvar/322760 ^@ NM_145068.3(TRPV3):c.1878C>T (p.Ser626=) http://identifiers.org/clinvar/322775 ^@ NM_145068.3(TRPV3):c.1105C>T (p.Arg369Trp) http://identifiers.org/clinvar/320733 ^@ NM_012213.2(MLYCD):c.1160C>T (p.Ser387Leu) http://identifiers.org/clinvar/320743 ^@ NM_012213.2(MLYCD):c.*82C>G http://identifiers.org/clinvar/320744 ^@ NM_012213.2(MLYCD):c.*130G>T http://identifiers.org/clinvar/322776 ^@ NM_145068.3(TRPV3):c.1083C>T (p.Leu361=) http://identifiers.org/clinvar/330054 ^@ NM_144687.3(NLRP12):c.-226A>G http://identifiers.org/clinvar/320746 ^@ NM_012213.2(MLYCD):c.*213G>A http://identifiers.org/clinvar/320756 ^@ NM_012213.2(MLYCD):c.*618G>C http://identifiers.org/clinvar/320762 ^@ NM_178452.5(DNAAF1):c.-128G>C http://identifiers.org/clinvar/322778 ^@ NM_145068.3(TRPV3):c.1066-5C>G http://identifiers.org/clinvar/320769 ^@ NM_178452.5(DNAAF1):c.842G>T (p.Arg281Ile) http://identifiers.org/clinvar/322779 ^@ NM_145068.3(TRPV3):c.1063G>A (p.Glu355Lys) http://identifiers.org/clinvar/320774 ^@ NM_178452.5(DNAAF1):c.1423C>T (p.Leu475=) http://identifiers.org/clinvar/330057 ^@ NM_002739.4(PRKCG):c.207C>T (p.Cys69=) http://identifiers.org/clinvar/322785 ^@ NM_145068.3(TRPV3):c.807A>G (p.Ala269=) http://identifiers.org/clinvar/330061 ^@ NM_002739.4(PRKCG):c.529+11G>T http://identifiers.org/clinvar/322786 ^@ NM_145068.3(TRPV3):c.615C>T (p.Asn205=) http://identifiers.org/clinvar/322787 ^@ NM_145068.3(TRPV3):c.592G>A (p.Asp198Asn) http://identifiers.org/clinvar/320783 ^@ NM_178452.5(DNAAF1):c.*43_*46delGTCT http://identifiers.org/clinvar/322791 ^@ NM_145068.3(TRPV3):c.442C>G (p.Arg148Gly) http://identifiers.org/clinvar/322794 ^@ NM_145068.3(TRPV3):c.349A>G (p.Arg117Gly) http://identifiers.org/clinvar/330062 ^@ NM_002739.4(PRKCG):c.642G>A (p.Thr214=) http://identifiers.org/clinvar/330067 ^@ NM_002739.4(PRKCG):c.1730C>T (p.Ser577Leu) http://identifiers.org/clinvar/322796 ^@ NM_145068.3(TRPV3):c.224+8C>T http://identifiers.org/clinvar/320786 ^@ NM_001451.2(FOXF1):c.57_59dupCGG (p.Gly23_Ala24insGly) http://identifiers.org/clinvar/330069 ^@ NM_002739.4(PRKCG):c.1941C>T (p.Phe647=) http://identifiers.org/clinvar/330070 ^@ NM_002739.4(PRKCG):c.1960C>T (p.Leu654=) http://identifiers.org/clinvar/320796 ^@ NM_001451.2(FOXF1):c.*56C>T http://identifiers.org/clinvar/330073 ^@ NM_002739.4(PRKCG):c.2086G>A (p.Val696Ile) http://identifiers.org/clinvar/322800 ^@ NM_145068.3(TRPV3):c.72C>T (p.Ala24=) http://identifiers.org/clinvar/322802 ^@ NM_145068.3(TRPV3):c.6A>C (p.Lys2Asn) http://identifiers.org/clinvar/320797 ^@ NM_001451.2(FOXF1):c.*57G>A http://identifiers.org/clinvar/330074 ^@ NM_002739.4(PRKCG):c.*39C>T http://identifiers.org/clinvar/330075 ^@ NM_002739.4(PRKCG):c.*48G>A http://identifiers.org/clinvar/322635 ^@ NM_000286.2(PEX12):c.*880_*883delCTTA http://identifiers.org/clinvar/320805 ^@ NM_001451.2(FOXF1):c.*310C>T http://identifiers.org/clinvar/322636 ^@ NM_000286.2(PEX12):c.*836G>C http://identifiers.org/clinvar/322638 ^@ NM_000286.2(PEX12):c.*772_*776delCTAAT http://identifiers.org/clinvar/320811 ^@ NM_001451.2(FOXF1):c.*467_*468insA http://identifiers.org/clinvar/320818 ^@ NM_001451.2(FOXF1):c.*664A>G http://identifiers.org/clinvar/330077 ^@ NM_002739.4(PRKCG):c.*199C>T http://identifiers.org/clinvar/330078 ^@ NM_002739.4(PRKCG):c.*360G>C http://identifiers.org/clinvar/320822 ^@ NM_001451.2(FOXF1):c.*805C>T http://identifiers.org/clinvar/330079 ^@ NM_002739.4(PRKCG):c.*427T>C http://identifiers.org/clinvar/320831 ^@ NM_001451.2(FOXF1):c.*1175_*1176delTT http://identifiers.org/clinvar/322639 ^@ NM_000286.2(PEX12):c.*636T>C http://identifiers.org/clinvar/322642 ^@ NM_000286.2(PEX12):c.*550_*552delGTT http://identifiers.org/clinvar/330081 ^@ NM_002739.4(PRKCG):c.*481T>C http://identifiers.org/clinvar/322657 ^@ NM_000286.2(PEX12):c.-138T>C http://identifiers.org/clinvar/330082 ^@ NM_002739.4(PRKCG):c.*550C>T http://identifiers.org/clinvar/320836 ^@ NM_020686.5(ABAT):c.-150C>A http://identifiers.org/clinvar/330085 ^@ NM_015629.3(PRPF31):c.-343C>T http://identifiers.org/clinvar/330088 ^@ NM_015629.3(PRPF31):c.-127G>A http://identifiers.org/clinvar/320841 ^@ NM_020686.5(ABAT):c.167A>G (p.Gln56Arg) http://identifiers.org/clinvar/330090 ^@ NM_015629.3(PRPF31):c.-32A>C http://identifiers.org/clinvar/322804 ^@ NM_145068.3(TRPV3):c.-142G>C http://identifiers.org/clinvar/330093 ^@ NM_015629.3(PRPF31):c.107A>G (p.Gln36Arg) http://identifiers.org/clinvar/322661 ^@ NM_000286.2(PEX12):c.-405C>G http://identifiers.org/clinvar/322662 ^@ NM_000286.2(PEX12):c.-427G>A http://identifiers.org/clinvar/321069 ^@ NM_020686.5(ABAT):c.366+11G>T http://identifiers.org/clinvar/321071 ^@ NM_020686.5(ABAT):c.448-15T>A http://identifiers.org/clinvar/322666 ^@ NM_000286.2(PEX12):c.-534C>T http://identifiers.org/clinvar/321073 ^@ NM_020686.5(ABAT):c.540+32_540+35dupCACA http://identifiers.org/clinvar/321075 ^@ NM_020686.5(ABAT):c.555G>A (p.Gly185=) http://identifiers.org/clinvar/322808 ^@ NM_145068.3(TRPV3):c.-226G>C http://identifiers.org/clinvar/322813 ^@ NM_145068.3(TRPV3):c.-313C>T http://identifiers.org/clinvar/330095 ^@ NM_015629.3(PRPF31):c.207G>A (p.Glu69=) http://identifiers.org/clinvar/330101 ^@ NM_015629.3(PRPF31):c.855+12G>A http://identifiers.org/clinvar/322818 ^@ NM_004937.2(CTNS):c.-458C>T http://identifiers.org/clinvar/330103 ^@ NM_015629.3(PRPF31):c.1074-6C>A http://identifiers.org/clinvar/330105 ^@ NM_015629.3(PRPF31):c.1147-5C>G http://identifiers.org/clinvar/322823 ^@ NM_004937.2(CTNS):c.-272A>C http://identifiers.org/clinvar/322824 ^@ NM_004937.2(CTNS):c.-258G>A http://identifiers.org/clinvar/322825 ^@ NM_004937.2(CTNS):c.-230+11A>G http://identifiers.org/clinvar/321086 ^@ NM_020686.5(ABAT):c.1158G>A (p.Pro386=) http://identifiers.org/clinvar/321097 ^@ NM_020686.5(ABAT):c.*259G>A http://identifiers.org/clinvar/330107 ^@ NM_015629.3(PRPF31):c.1230A>G (p.Thr410=) http://identifiers.org/clinvar/330112 ^@ NM_015629.3(PRPF31):c.*19G>A http://identifiers.org/clinvar/322826 ^@ NM_004937.2(CTNS):c.-213T>C http://identifiers.org/clinvar/330116 ^@ NM_015629.3(PRPF31):c.*154C>T http://identifiers.org/clinvar/330118 ^@ NM_015629.3(PRPF31):c.*224_*228dupTTTTA http://identifiers.org/clinvar/321102 ^@ NM_020686.5(ABAT):c.*479C>T http://identifiers.org/clinvar/322828 ^@ NM_004937.2(CTNS):c.-74A>T http://identifiers.org/clinvar/330120 ^@ NM_024075.4(TSEN34):c.-95A>G http://identifiers.org/clinvar/321103 ^@ NM_020686.5(ABAT):c.*493C>T http://identifiers.org/clinvar/330122 ^@ NM_024075.4(TSEN34):c.-5+15G>A http://identifiers.org/clinvar/322830 ^@ NM_004937.2(CTNS):c.-24C>T http://identifiers.org/clinvar/330126 ^@ NM_024075.4(TSEN34):c.230G>C (p.Arg77Pro) http://identifiers.org/clinvar/322833 ^@ NM_004937.2(CTNS):c.82G>C (p.Val28Leu) http://identifiers.org/clinvar/321105 ^@ NM_020686.5(ABAT):c.*571A>C http://identifiers.org/clinvar/321112 ^@ NM_020686.5(ABAT):c.*1133G>A http://identifiers.org/clinvar/330129 ^@ NM_024075.4(TSEN34):c.591C>G (p.Ala197=) http://identifiers.org/clinvar/330132 ^@ NM_024075.4(TSEN34):c.*94C>T http://identifiers.org/clinvar/322844 ^@ NM_004937.2(CTNS):c.970G>A (p.Asp324Asn) http://identifiers.org/clinvar/321124 ^@ NM_020686.5(ABAT):c.*1558G>A http://identifiers.org/clinvar/330136 ^@ NM_024075.4(TSEN34):c.*385A= http://identifiers.org/clinvar/321125 ^@ NM_020686.5(ABAT):c.*1575A>G http://identifiers.org/clinvar/330142 ^@ NM_024075.4(TSEN34):c.*855_*856delAT http://identifiers.org/clinvar/330146 ^@ NM_024075.4(TSEN34):c.*993C>T http://identifiers.org/clinvar/321126 ^@ NM_020686.5(ABAT):c.*1593T>A http://identifiers.org/clinvar/330148 ^@ NM_024075.4(TSEN34):c.*1053G>A http://identifiers.org/clinvar/322850 ^@ NM_004937.2(CTNS):c.*262G>A http://identifiers.org/clinvar/322853 ^@ NM_004937.2(CTNS):c.*410A>G http://identifiers.org/clinvar/330150 ^@ NM_024075.4(TSEN34):c.*1128G>T http://identifiers.org/clinvar/330153 ^@ NM_206828.3(NLRP7):c.*180G>C http://identifiers.org/clinvar/330155 ^@ NM_206828.3(NLRP7):c.2912C>T (p.Thr971Met) http://identifiers.org/clinvar/321137 ^@ NM_020686.5(ABAT):c.*1988C>T http://identifiers.org/clinvar/321138 ^@ NM_020686.5(ABAT):c.*2074A>C http://identifiers.org/clinvar/322857 ^@ NM_004937.2(CTNS):c.*555T>C http://identifiers.org/clinvar/321139 ^@ NM_020686.5(ABAT):c.*2114G>A http://identifiers.org/clinvar/322862 ^@ NM_004937.2(CTNS):c.*654G>T http://identifiers.org/clinvar/322863 ^@ NM_004937.2(CTNS):c.*715C>T http://identifiers.org/clinvar/322865 ^@ NM_004937.2(CTNS):c.*738T>G http://identifiers.org/clinvar/322874 ^@ NM_004937.2(CTNS):c.*1033_*1034insGGC http://identifiers.org/clinvar/322879 ^@ NM_004937.2(CTNS):c.*1117G>A http://identifiers.org/clinvar/330157 ^@ NM_206828.3(NLRP7):c.2750G>A (p.Arg917His) http://identifiers.org/clinvar/330158 ^@ NM_206828.3(NLRP7):c.2682T>C (p.Tyr894=) http://identifiers.org/clinvar/330170 ^@ NM_206828.3(NLRP7):c.1257C>G (p.Ala419=) http://identifiers.org/clinvar/330174 ^@ NM_206828.3(NLRP7):c.1104T>C (p.Ile368=) http://identifiers.org/clinvar/321140 ^@ NM_020686.5(ABAT):c.*2276G>C http://identifiers.org/clinvar/321141 ^@ NM_020686.5(ABAT):c.*2300G>A http://identifiers.org/clinvar/322880 ^@ NM_004937.2(CTNS):c.*1125C>T http://identifiers.org/clinvar/322886 ^@ NM_004937.2(CTNS):c.*1206T>C http://identifiers.org/clinvar/321143 ^@ NM_020686.5(ABAT):c.*2352G>C http://identifiers.org/clinvar/322894 ^@ NM_004937.2(CTNS):c.*1501T>C http://identifiers.org/clinvar/330179 ^@ NM_206828.3(NLRP7):c.681C>A (p.Ile227=) http://identifiers.org/clinvar/322918 ^@ NM_004937.2(CTNS):c.*2546G>C http://identifiers.org/clinvar/330180 ^@ NM_206828.3(NLRP7):c.555C>T (p.Thr185=) http://identifiers.org/clinvar/321150 ^@ NM_020686.5(ABAT):c.*2986T>C http://identifiers.org/clinvar/321153 ^@ NM_020686.5(ABAT):c.*3059C>T http://identifiers.org/clinvar/322919 ^@ NM_004937.2(CTNS):c.*2550G>A http://identifiers.org/clinvar/322923 ^@ NM_004937.2(CTNS):c.*2628C>T http://identifiers.org/clinvar/330184 ^@ NM_206828.3(NLRP7):c.352+13G>A http://identifiers.org/clinvar/321154 ^@ NM_020686.5(ABAT):c.*3110_*3113delCAGT http://identifiers.org/clinvar/330196 ^@ NM_003283.5(TNNT1):c.34G>C (p.Glu12Gln) http://identifiers.org/clinvar/321219 ^@ NM_000303.2(PMM2):c.593A>C (p.Asn198Thr) http://identifiers.org/clinvar/330198 ^@ NM_000363.4(TNNI3):c.550-11C>T http://identifiers.org/clinvar/330200 ^@ NM_000363.4(TNNI3):c.157C>T (p.Leu53=) http://identifiers.org/clinvar/320850 ^@ NM_001127464.2(ZNF469):c.142G>A (p.Ala48Thr) http://identifiers.org/clinvar/322931 ^@ NM_000458.3(HNF1B):c.*701G>A http://identifiers.org/clinvar/320862 ^@ NM_001127464.2(ZNF469):c.1048G>A (p.Asp350Asn) http://identifiers.org/clinvar/322945 ^@ NM_000458.3(HNF1B):c.1474G>A (p.Gly492Ser) http://identifiers.org/clinvar/330204 ^@ NM_001256714.1(DNAAF3):c.*374C>G http://identifiers.org/clinvar/320863 ^@ NM_001127464.2(ZNF469):c.1471G>A (p.Ala491Thr) http://identifiers.org/clinvar/330208 ^@ NM_001256714.1(DNAAF3):c.1615G>A (p.Gly539Arg) http://identifiers.org/clinvar/320870 ^@ NM_001127464.2(ZNF469):c.1663G>A (p.Asp555Asn) http://identifiers.org/clinvar/330211 ^@ NM_001256714.1(DNAAF3):c.1253-4G>A http://identifiers.org/clinvar/322950 ^@ NM_000458.3(HNF1B):c.-36delC http://identifiers.org/clinvar/320874 ^@ NM_001127464.2(ZNF469):c.1882C>A (p.Pro628Thr) http://identifiers.org/clinvar/322954 ^@ NM_001004334.3(GPR179):c.*824G>A http://identifiers.org/clinvar/322957 ^@ NM_001004334.3(GPR179):c.*523G>A http://identifiers.org/clinvar/320876 ^@ NM_001127464.2(ZNF469):c.1932G>C (p.Thr644=) http://identifiers.org/clinvar/320879 ^@ NM_001127464.2(ZNF469):c.2034C>T (p.Ala678=) http://identifiers.org/clinvar/320880 ^@ NM_001127464.2(ZNF469):c.2035G>A (p.Glu679Lys) http://identifiers.org/clinvar/330221 ^@ NM_001256714.1(DNAAF3):c.50G>A (p.Gly17Asp) http://identifiers.org/clinvar/322958 ^@ NM_001004334.3(GPR179):c.*516T>C http://identifiers.org/clinvar/330222 ^@ NM_001256714.1(DNAAF3):c.-31T>C http://identifiers.org/clinvar/322964 ^@ NM_001004334.3(GPR179):c.7035C>T (p.Gly2345=) http://identifiers.org/clinvar/322965 ^@ NM_001004334.3(GPR179):c.6965C>T (p.Thr2322Ile) http://identifiers.org/clinvar/330224 ^@ NM_001015878.1(AURKC):c.-145G>C http://identifiers.org/clinvar/320885 ^@ NM_001127464.2(ZNF469):c.2370G>A (p.Leu790=) http://identifiers.org/clinvar/322968 ^@ NM_001004334.3(GPR179):c.6621C>T (p.Ser2207=) http://identifiers.org/clinvar/322973 ^@ NM_001004334.3(GPR179):c.6012T>A (p.Asp2004Glu) http://identifiers.org/clinvar/322976 ^@ NM_001004334.3(GPR179):c.5930C>A (p.Pro1977His) http://identifiers.org/clinvar/320890 ^@ NM_001127464.2(ZNF469):c.2693C>T (p.Pro898Leu) http://identifiers.org/clinvar/320891 ^@ NM_001127464.2(ZNF469):c.2803G>A (p.Glu935Lys) http://identifiers.org/clinvar/322978 ^@ NM_001004334.3(GPR179):c.5774T>G (p.Phe1925Cys) http://identifiers.org/clinvar/322981 ^@ NM_001004334.3(GPR179):c.5083G>A (p.Glu1695Lys) http://identifiers.org/clinvar/330230 ^@ NM_001015878.1(AURKC):c.396G>A (p.Leu132=) http://identifiers.org/clinvar/330234 ^@ NM_175614.4(NDUFA11):c.*59C>G http://identifiers.org/clinvar/322985 ^@ NM_001004334.3(GPR179):c.4709C>T (p.Thr1570Met) http://identifiers.org/clinvar/322988 ^@ NM_001004334.3(GPR179):c.3919C>T (p.Arg1307Trp) http://identifiers.org/clinvar/323001 ^@ NM_001004334.3(GPR179):c.3357G>A (p.Ala1119=) http://identifiers.org/clinvar/320897 ^@ NM_001127464.2(ZNF469):c.2931C>T (p.Gly977=) http://identifiers.org/clinvar/320898 ^@ NM_001127464.2(ZNF469):c.2951_2953delACG (p.Asp984del) http://identifiers.org/clinvar/330237 ^@ NM_175614.4(NDUFA11):c.-31G>A http://identifiers.org/clinvar/323002 ^@ NM_001004334.3(GPR179):c.3310_3312delAAG (p.Lys1104del) http://identifiers.org/clinvar/330238 ^@ NM_175614.4(NDUFA11):c.-51T>G http://identifiers.org/clinvar/323004 ^@ NM_001004334.3(GPR179):c.2988G>A (p.Glu996=) http://identifiers.org/clinvar/330243 ^@ NM_175614.4(NDUFA11):c.-210T>C http://identifiers.org/clinvar/320900 ^@ NM_001127464.2(ZNF469):c.2953G>A (p.Gly985Ser) http://identifiers.org/clinvar/330250 ^@ NM_006087.3(TUBB4A):c.*673A>G http://identifiers.org/clinvar/323005 ^@ NM_001004334.3(GPR179):c.2924C>A (p.Ala975Asp) http://identifiers.org/clinvar/323010 ^@ NM_001004334.3(GPR179):c.2556C>T (p.Leu852=) http://identifiers.org/clinvar/320901 ^@ NM_001127464.2(ZNF469):c.2986C>A (p.Arg996Ser) http://identifiers.org/clinvar/320913 ^@ NM_001127464.2(ZNF469):c.3834G>A (p.Gly1278=) http://identifiers.org/clinvar/330252 ^@ NM_006087.3(TUBB4A):c.*440C>T http://identifiers.org/clinvar/330253 ^@ NM_006087.3(TUBB4A):c.*429C>T http://identifiers.org/clinvar/330258 ^@ NM_006087.3(TUBB4A):c.*96C>G http://identifiers.org/clinvar/330266 ^@ NM_006087.3(TUBB4A):c.210C>T (p.Pro70=) http://identifiers.org/clinvar/330268 ^@ NM_006087.3(TUBB4A):c.-62C>T http://identifiers.org/clinvar/323026 ^@ NM_001004334.3(GPR179):c.989G>T (p.Gly330Val) http://identifiers.org/clinvar/323036 ^@ NM_001004334.3(GPR179):c.645G>A (p.Pro215=) http://identifiers.org/clinvar/323040 ^@ NM_001004334.3(GPR179):c.180C>T (p.Leu60=) http://identifiers.org/clinvar/330271 ^@ NM_000064.3(C3):c.4855A>C (p.Ser1619Arg) http://identifiers.org/clinvar/323041 ^@ NM_001004334.3(GPR179):c.134G>T (p.Gly45Val) http://identifiers.org/clinvar/320917 ^@ NM_001127464.2(ZNF469):c.4114C>A (p.Pro1372Thr) http://identifiers.org/clinvar/320918 ^@ NM_001127464.2(ZNF469):c.4132G>T (p.Asp1378Tyr) http://identifiers.org/clinvar/330273 ^@ NM_000064.3(C3):c.4827C>T (p.Ser1609=) http://identifiers.org/clinvar/330274 ^@ NM_000064.3(C3):c.4803C>T (p.His1601=) http://identifiers.org/clinvar/330278 ^@ NM_000064.3(C3):c.4635C>T (p.Tyr1545=) http://identifiers.org/clinvar/320925 ^@ NM_001127464.2(ZNF469):c.4395G>A (p.Pro1465=) http://identifiers.org/clinvar/320927 ^@ NM_001127464.2(ZNF469):c.4490G>C (p.Ser1497Thr) http://identifiers.org/clinvar/330284 ^@ NM_000064.3(C3):c.4319A>C (p.Asp1440Ala) http://identifiers.org/clinvar/320929 ^@ NM_001127464.2(ZNF469):c.4765C>T (p.Pro1589Ser) http://identifiers.org/clinvar/323044 ^@ NM_001004334.3(GPR179):c.61G>C (p.Val21Leu) http://identifiers.org/clinvar/323046 ^@ NM_003673.3(TCAP):c.111-13C>T http://identifiers.org/clinvar/330286 ^@ NM_000064.3(C3):c.4120+8G>T http://identifiers.org/clinvar/323047 ^@ NM_003673.3(TCAP):c.*76G>T http://identifiers.org/clinvar/320930 ^@ NM_001127464.2(ZNF469):c.4800G>A (p.Thr1600=) http://identifiers.org/clinvar/323048 ^@ NM_003673.3(TCAP):c.*292G>A http://identifiers.org/clinvar/320931 ^@ NM_001127464.2(ZNF469):c.4808G>A (p.Gly1603Glu) http://identifiers.org/clinvar/330295 ^@ NM_000064.3(C3):c.2907C>T (p.Asp969=) http://identifiers.org/clinvar/320932 ^@ NM_001127464.2(ZNF469):c.4823A>G (p.His1608Arg) http://identifiers.org/clinvar/320936 ^@ NM_001127464.2(ZNF469):c.5003C>T (p.Pro1668Leu) http://identifiers.org/clinvar/323050 ^@ NM_003673.3(TCAP):c.*377G>C http://identifiers.org/clinvar/320937 ^@ NM_001127464.2(ZNF469):c.5061G>A (p.Arg1687=) http://identifiers.org/clinvar/320938 ^@ NM_001127464.2(ZNF469):c.5066C>G (p.Pro1689Arg) http://identifiers.org/clinvar/330296 ^@ NM_000064.3(C3):c.2901C>T (p.Leu967=) http://identifiers.org/clinvar/323058 ^@ NM_001254.3(CDC6):c.1020G>A (p.Leu340=) http://identifiers.org/clinvar/320946 ^@ NM_001127464.2(ZNF469):c.5772T>C (p.Cys1924=) http://identifiers.org/clinvar/330297 ^@ NM_000064.3(C3):c.2863+7C>T http://identifiers.org/clinvar/323068 ^@ NM_001254.3(CDC6):c.*747G>A http://identifiers.org/clinvar/330306 ^@ NM_000064.3(C3):c.2403G>A (p.Thr801=) http://identifiers.org/clinvar/330316 ^@ NM_000064.3(C3):c.1855G>A (p.Val619Met) http://identifiers.org/clinvar/320947 ^@ NM_001127464.2(ZNF469):c.5778C>G (p.Pro1926=) http://identifiers.org/clinvar/320948 ^@ NM_001127464.2(ZNF469):c.5828C>T (p.Ala1943Val) http://identifiers.org/clinvar/323070 ^@ NM_002274.3(KRT13):c.*259G>T http://identifiers.org/clinvar/330317 ^@ NM_000064.3(C3):c.1836G>A (p.Thr612=) http://identifiers.org/clinvar/330323 ^@ NM_000064.3(C3):c.1623C>T (p.Ser541=) http://identifiers.org/clinvar/323080 ^@ NM_002274.3(KRT13):c.1028C>T (p.Ala343Val) http://identifiers.org/clinvar/320950 ^@ NM_001127464.2(ZNF469):c.5948G>A (p.Gly1983Asp) http://identifiers.org/clinvar/323082 ^@ NM_002274.3(KRT13):c.991C>T (p.Leu331=) http://identifiers.org/clinvar/323091 ^@ NM_002274.3(KRT13):c.759G>C (p.Gln253His) http://identifiers.org/clinvar/323096 ^@ NM_002274.3(KRT13):c.560C>T (p.Ala187Val) http://identifiers.org/clinvar/330324 ^@ NM_000064.3(C3):c.1554C>A (p.Pro518=) http://identifiers.org/clinvar/320951 ^@ NM_001127464.2(ZNF469):c.5991G>A (p.Ala1997=) http://identifiers.org/clinvar/330326 ^@ NM_000064.3(C3):c.1303G>A (p.Glu435Lys) http://identifiers.org/clinvar/330327 ^@ NM_000064.3(C3):c.1269+14C>A http://identifiers.org/clinvar/323097 ^@ NM_002274.3(KRT13):c.540T>C (p.Ile180=) http://identifiers.org/clinvar/320954 ^@ NM_001127464.2(ZNF469):c.6378G>A (p.Pro2126=) http://identifiers.org/clinvar/320955 ^@ NM_001127464.2(ZNF469):c.6386G>A (p.Arg2129Lys) http://identifiers.org/clinvar/323104 ^@ NM_002274.3(KRT13):c.384C>T (p.Ala128=) http://identifiers.org/clinvar/323106 ^@ NM_002274.3(KRT13):c.204C>A (p.Gly68=) http://identifiers.org/clinvar/330328 ^@ NM_000064.3(C3):c.1164C>T (p.Pro388=) http://identifiers.org/clinvar/330331 ^@ NM_000064.3(C3):c.1042A>G (p.Ile348Val) http://identifiers.org/clinvar/323108 ^@ NM_002274.3(KRT13):c.-45C>A http://identifiers.org/clinvar/330341 ^@ NM_000064.3(C3):c.-3_-2dupAC http://identifiers.org/clinvar/323110 ^@ NM_000226.3(KRT9):c.*230T>C http://identifiers.org/clinvar/323111 ^@ NM_000226.3(KRT9):c.*181G>A http://identifiers.org/clinvar/320959 ^@ NM_001127464.2(ZNF469):c.6693G>A (p.Glu2231=) http://identifiers.org/clinvar/330345 ^@ NM_000208.3(INSR):c.*4736T>G http://identifiers.org/clinvar/330354 ^@ NM_000208.3(INSR):c.*4218G>C http://identifiers.org/clinvar/320965 ^@ NM_001127464.2(ZNF469):c.7027G>A (p.Gly2343Arg) http://identifiers.org/clinvar/320971 ^@ NM_001127464.2(ZNF469):c.7413G>A (p.Pro2471=) http://identifiers.org/clinvar/330357 ^@ NM_000208.3(INSR):c.*3894G>A http://identifiers.org/clinvar/320972 ^@ NM_001127464.2(ZNF469):c.7424C>A (p.Ala2475Glu) http://identifiers.org/clinvar/320975 ^@ NM_001127464.2(ZNF469):c.7632G>A (p.Gln2544=) http://identifiers.org/clinvar/323116 ^@ NM_000226.3(KRT9):c.1587T>C (p.Gly529=) http://identifiers.org/clinvar/323121 ^@ NM_000226.3(KRT9):c.1405G>A (p.Gly469Arg) http://identifiers.org/clinvar/323122 ^@ NM_000226.3(KRT9):c.1395-13C>T http://identifiers.org/clinvar/320977 ^@ NM_001127464.2(ZNF469):c.7721T>C (p.Leu2574Pro) http://identifiers.org/clinvar/320984 ^@ NM_001127464.2(ZNF469):c.8128G>A (p.Ala2710Thr) http://identifiers.org/clinvar/323126 ^@ NM_000226.3(KRT9):c.1170+8G>T http://identifiers.org/clinvar/320987 ^@ NM_001127464.2(ZNF469):c.8303C>G (p.Pro2768Arg) http://identifiers.org/clinvar/320988 ^@ NM_001127464.2(ZNF469):c.8346G>A (p.Ala2782=) http://identifiers.org/clinvar/330361 ^@ NM_000208.3(INSR):c.*3685T>C http://identifiers.org/clinvar/330364 ^@ NM_000208.3(INSR):c.*3592A>G http://identifiers.org/clinvar/330375 ^@ NM_000208.3(INSR):c.*3008delT http://identifiers.org/clinvar/323127 ^@ NM_000226.3(KRT9):c.1125C>T (p.His375=) http://identifiers.org/clinvar/323128 ^@ NM_000226.3(KRT9):c.1096A>G (p.Ser366Gly) http://identifiers.org/clinvar/320993 ^@ NM_001127464.2(ZNF469):c.8570C>T (p.Pro2857Leu) http://identifiers.org/clinvar/320994 ^@ NM_001127464.2(ZNF469):c.8701G>A (p.Glu2901Lys) http://identifiers.org/clinvar/323133 ^@ NM_000226.3(KRT9):c.726-9G>T http://identifiers.org/clinvar/323135 ^@ NM_000226.3(KRT9):c.540C>A (p.Asp180Glu) http://identifiers.org/clinvar/323136 ^@ NM_000226.3(KRT9):c.510G>A (p.Lys170=) http://identifiers.org/clinvar/323138 ^@ NM_000226.3(KRT9):c.286G>A (p.Gly96Ser) http://identifiers.org/clinvar/323140 ^@ NM_000226.3(KRT9):c.222C>T (p.Gly74=) http://identifiers.org/clinvar/323143 ^@ NM_000226.3(KRT9):c.42C>T (p.Ser14=) http://identifiers.org/clinvar/330377 ^@ NM_000208.3(INSR):c.*2853T>C http://identifiers.org/clinvar/330383 ^@ NM_000208.3(INSR):c.*2519G>A http://identifiers.org/clinvar/320996 ^@ NM_001127464.2(ZNF469):c.8722G>A (p.Glu2908Lys) http://identifiers.org/clinvar/323150 ^@ NM_002230.2(JUP):c.*670G>T http://identifiers.org/clinvar/330384 ^@ NM_000208.3(INSR):c.*2517A>G http://identifiers.org/clinvar/323151 ^@ NM_002230.2(JUP):c.*669C>T http://identifiers.org/clinvar/320997 ^@ NM_001127464.2(ZNF469):c.8772C>T (p.Asp2924=) http://identifiers.org/clinvar/320998 ^@ NM_001127464.2(ZNF469):c.8785G>A (p.Gly2929Ser) http://identifiers.org/clinvar/323152 ^@ NM_002230.2(JUP):c.*623G>A http://identifiers.org/clinvar/323156 ^@ NM_002230.2(JUP):c.*339C>T http://identifiers.org/clinvar/321008 ^@ NM_001127464.2(ZNF469):c.9621G>A (p.Ala3207=) http://identifiers.org/clinvar/323159 ^@ NM_002230.2(JUP):c.*225T>C http://identifiers.org/clinvar/330387 ^@ NM_000208.3(INSR):c.*2456C>T http://identifiers.org/clinvar/321014 ^@ NM_001127464.2(ZNF469):c.10246G>C (p.Gly3416Arg) http://identifiers.org/clinvar/330389 ^@ NM_000208.3(INSR):c.*2340A>G http://identifiers.org/clinvar/321019 ^@ NM_001127464.2(ZNF469):c.10656C>T (p.Asn3552=) http://identifiers.org/clinvar/321025 ^@ NM_001127464.2(ZNF469):c.11325G>C (p.Gly3775=) http://identifiers.org/clinvar/323161 ^@ NM_002230.2(JUP):c.2208G>A (p.Pro736=) http://identifiers.org/clinvar/321027 ^@ NM_001127464.2(ZNF469):c.11452C>G (p.Arg3818Gly) http://identifiers.org/clinvar/323166 ^@ NM_002230.2(JUP):c.1854C>T (p.Ala618=) http://identifiers.org/clinvar/323174 ^@ NM_002230.2(JUP):c.-55C>T http://identifiers.org/clinvar/330391 ^@ NM_000208.3(INSR):c.*2255T>G http://identifiers.org/clinvar/321028 ^@ NM_001127464.2(ZNF469):c.11462G>A (p.Arg3821Gln) http://identifiers.org/clinvar/330395 ^@ NM_000208.3(INSR):c.*2136T>A http://identifiers.org/clinvar/323176 ^@ NM_021939.3(FKBP10):c.-303G>A http://identifiers.org/clinvar/323177 ^@ NM_021939.3(FKBP10):c.-267G>A http://identifiers.org/clinvar/321029 ^@ NM_001127464.2(ZNF469):c.11482C>T (p.Arg3828Cys) http://identifiers.org/clinvar/321038 ^@ NM_001127464.2(ZNF469):c.*218G>A http://identifiers.org/clinvar/330399 ^@ NM_000208.3(INSR):c.*1967G>A http://identifiers.org/clinvar/321045 ^@ NM_001127464.2(ZNF469):c.*499A>G http://identifiers.org/clinvar/330407 ^@ NM_000208.3(INSR):c.*1192G>A http://identifiers.org/clinvar/321050 ^@ NM_001127464.2(ZNF469):c.*617C>T http://identifiers.org/clinvar/323181 ^@ NM_021939.3(FKBP10):c.473T>C (p.Val158Ala) http://identifiers.org/clinvar/323185 ^@ NM_021939.3(FKBP10):c.587G>A (p.Ser196Asn) http://identifiers.org/clinvar/323189 ^@ NM_021939.3(FKBP10):c.1016G>A (p.Arg339Gln) http://identifiers.org/clinvar/330411 ^@ NM_000208.3(INSR):c.*1089A>G http://identifiers.org/clinvar/330412 ^@ NM_000208.3(INSR):c.*999A>G http://identifiers.org/clinvar/323202 ^@ NM_021939.3(FKBP10):c.*589T>C http://identifiers.org/clinvar/323206 ^@ NM_139276.2(STAT3):c.*2343delC http://identifiers.org/clinvar/321052 ^@ NM_001127464.2(ZNF469):c.*634C>A http://identifiers.org/clinvar/330422 ^@ NM_000208.3(INSR):c.*501T>G http://identifiers.org/clinvar/323209 ^@ NM_139276.2(STAT3):c.*2147A>G http://identifiers.org/clinvar/330425 ^@ NM_000208.3(INSR):c.*358_*359insTTTTTT http://identifiers.org/clinvar/321053 ^@ NM_001127464.2(ZNF469):c.*649C>G